# RGD-PIPELINE: ftp-file-extracts # MODULE: genes-version-2.1.2.5 # GENERATED-ON: 2013/08/16 # PURPOSE: information about active Human genes extracted from RGD database # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by ';' # ### As of Apr 1, 2011 RATMAP_IDs and RHDB_IDs are discontinued. ### As of Apr 15, 2011 GENE_REFSEQ_STATUS column is provided. ### As of Jul 1, 2011 fixed generation of CURATED_REF_PUBMED_IDs and UNCURATED_PUBMED_IDs ### As of Nov 23, 2011 ver 2.1.2: no format changes (UniGene Ids are extracted from db in different way). ### As of Dec 19, 2011 ver 2.1.2.1: no format changes (fixed documentation in header to be consistent with column names). ### As of May 31, 2012 ver 2.1.2.2: no format changes (improved generation speed). ### As of July 6, 2012 ver 2.1.2.3: no format changes (added generation of file GENES_RAT_5.0). ### As of Oct 23, 2012 ver 2.1.2.4: obsoleted column 23 'UNCURATED_REF_MEDLINE_ID' - changed to '(UNUSED)'. ### As of Dec 17, 2012 ver 2.1.2.5: no format changes. # #COLUMN INFORMATION: # (First 38 columns are in common between rat, mouse and human) # #1 GENE_RGD_ID the RGD_ID of the gene #2 SYMBOL official gene symbol #3 NAME gene name #4 GENE_DESC gene description (if available) #5 CHROMOSOME_CELERA chromosome for Celera assembly #6 CHROMOSOME_36 chromosome for the old reference assembly build 36 #7 CHROMOSOME_37 chromosome for the current reference assembly build 37 #8 FISH_BAND fish band information #9 START_POS_CELERA start position for Celera assembly #10 STOP_POS_CELERA stop position for Celera assembly #11 STRAND_CELERA strand information for Celera assembly #12 START_POS_36 start position for old reference assembly build 36 #13 STOP_POS_36 stop position for old reference assembly build 36 #14 STRAND_36 strand information for old reference assembly build 36 #15 START_POS_37 start position for current reference assembly build 37 #16 STOP_POS_37 stop position for current reference assembly build 37 #17 STRAND_37 strand information for current reference assembly build 37 #18 CURATED_REF_RGD_ID RGD_ID of paper(s) used to curate gene #19 CURATED_REF_PUBMED_ID PUBMED_ID of paper(s) used to curate gene #20 UNCURATED_PUBMED_ID PUBMED ids of papers associated with the gene at NCBI but not used for curation #21 ENTREZ_GENE EntrezGene id #22 UNIPROT_ID UniProtKB id(s) #23 (UNUSED) blank #24 GENBANK_NUCLEOTIDE GenBank Nucleotide ID(s) #25 TIGR_ID TIGR ID(s) #26 GENBANK_PROTEIN GenBank Protein ID(s) #27 UNIGENE_ID UniGene ID(s) #28 SSLP_RGD_ID RGD_ID(s) of SSLPS associated with given gene #29 SSLP_SYMBOL SSLP symbol #30 OLD_SYMBOL old symbol alias(es) #31 OLD_NAME old name alias(es) #32 QTL_RGD_ID RGD_ID(s) of QTLs associated with given gene #33 QTL_SYMBOL QTL symbol #34 NOMENCLATURE_STATUS nomenclature status #35 SPLICE_RGD_ID RGD_IDs for gene splices #36 SPLICE_SYMBOL symbol for gene #37 GENE_TYPE gene type #38 ENSEMBL_ID Ensembl Gene ID #39 HGNC_ID Human Genome Nomenclature Committee ID #40 HPRD_ID Human Protein Reference Database ID #41 OMIM_ID Online Mendelian Inheritance in Man ID #42 GENE_REFSEQ_STATUS gene RefSeq Status (from NCBI) # GENE_RGD_ID SYMBOL NAME GENE_DESC CHROMOSOME_CELERA CHROMOSOME_36 CHROMOSOME_37 FISH_BAND START_POS_CELERA STOP_POS_CELERA STRAND_CELERA START_POS_36 STOP_POS_36 STRAND_36 START_POS_37 STOP_POS_37 STRAND_37 CURATED_REF_RGD_ID CURATED_REF_PUBMED_ID UNCURATED_PUBMED_ID ENTREZ_GENE UNIPROT_ID (UNUSED) GENBANK_NUCLEOTIDE TIGR_ID GENBANK_PROTEIN UNIGENE_ID SSLP_RGD_ID SSLP_SYMBOL OLD_SYMBOL OLD_NAME QTL_RGD_ID QTL_SYMBOL NOMENCLATURE_STATUS SPLICE_RGD_ID SPLICE_SYMBOL GENE_TYPE ENSEMBL_ID HGNC_ID HPRD_ID OMIM_ID GENE_REFSEQ_STATUS 6481317 A2ML1-AS1 A2ML1 antisense RNA 1 100874108 AC006513;AC092490 APPROVED miscrna 41022 6766578 A2M-AS1 A2M antisense RNA 1 12 p13.31 9217773 9220651 + 14702039 144571 ABBA01012257;AC007436;AK056852;AK096375;AMYH01004244;NR_026971 Hs.592432 2139910 SGC31674 APPROVED miscrna ENSG00000245105 27057 PREDICTED 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 1 1 1 p35.1 32044033 32050184 - 33544954 33559286 - 33772367 33778494 - 6480464 18630988;23378701 127550 ABBA01023379;ABBA01023380;AL513327;AMYH01000479;AMYH01000480;NM_001080438 NP_001073907 A3GALT2P;IGBS3S alpha 1,3-galactosyltransferase 2;alpha 1,3-galactosyltransferase 2, pseudogene;globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 pseudogene;iGb3 synthase;isoglobotriaosylceramide synthase APPROVED protein-coding 30005 INFERRED 1350441 A2MP1 alpha-2-macroglobulin pseudogene 1 12 12 12 p13.31 10921342 10924048 - 9275469 9278175 - 9381129 9386803 - 1299021 2478422 19105203;20617511;16344560;22747683;21338416 3 ABBA01012258;AC010175;AMYH01004244;DB301195;DV080209;DV080210;DY655603;DY655604;M24415;NR_040112 Hs.569125 A2MP APPROVED pseudo ENSG00000256069 8 VALIDATED 2311720 A1BG-AS1 A1BG antisense RNA 1 19 19 19 q13.4 55907329 55910543 + 58863336 58866549 + 58863336 58866549 + 12477932 503538 ABBA01020773;AC012313;AK027222;AMYH01010034;BC006144;BC040926;NR_015380 Hs.709582 1721049;1771488;2158079 G59506;RH65092;WI-16009 A1BG-AS;A1BGAS;FLJ23569;NCRNA00181 APPROVED miscrna ENSG00000268895 37133 PREDICTED 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 7795606 8 11 1606453 A2ML1 alpha-2-macroglobulin-like 1 This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID: 20805888). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 12 12 12 p13.31 10512687 10566801 + 8866417 8920646 + 8975150 9029381 + 16298998;19204726;18648652;17562024;16344560;14702039;12477932;10737800;20805888 144568 A8K2U0;B3KVV6;F5GXP1;F5GYG7;F5H2Z2;H0YGG5;H0YH14 ABBA01012252;ABBA01012253;ABBA01012254;AC006513;AC006581;AK057908;AK096448;AK122624;AK123591;AK123592;AK123601;AK290355;AK302555;AL832139;AL832750;AL833479;AMYH01004241;AMYH01004242;BC093840;BC112131;BF330285;BF354222;BX647674;BX648231;CH471116;DA436610;DA456454;DA461408;EL594621;NM_144670;NR_046256 A8K2U0;AAH93840;AAI12132;AAI72370;BAB71612;BAC04793;BAC85494;BAC85653;BAC85654;BAF83044;BAG53918;BAH13740;EAW88602;EAW88603;EAW88604;EAW88605;EAW88606;EAW88607;NP_653271 Hs.620532 CPAMD9;DKFZp686C1729;DKFZp686D2011;DKFZp686G1812;DKFZp686L1821;DKFZp686O1010;FLJ16045;FLJ25179;FLJ39129;FLJ41597;FLJ41598;FLJ41607 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9;C3 and PZP-like, alpha-2-macroglobulin domain containing 9;OTTHUMP00000158614;OTTHUMP00000236620;OTTHUMP00000236621;alpha-2-macroglobulin-like protein 1 APPROVED protein-coding ENSG00000166535 23336 08684 610627 VALIDATED 1347562 AACP arylamide acetylase pseudogene 8 8 8 p22 17193380 17195348 + 18271499 18273867 + 18227419 18229387 + 1298616 2340091 9284941;21995608;23459443 11 ABBA01021573;AC025062;AC120051;AMYH01018550;NG_004857;X17060 NATP pseudo 15 INFERRED 69466 A1BG alpha-1-B glycoprotein The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55902160 55908858 - 63548356 63556669 - 58858172 58864865 - 1580863;6480464 3458201;18706098;16335952;15489334;15461460;15221005;14760718;14702039;12477932;8889549;3610142;2591067;20116414;21591266;21900206;21988832;23284758 1 M0R009;P04217 AA484435;AB073611;ABBA01020773;AC010642;AC012313;AF414429;AI022193;AK055885;AK056201;AK289417;AMYH01010034;BC035719;BX325198;BX537419;CH471135;NM_130786;T80683;W25099 AAH35719;AAL07469;BAD38648;BAF82106;BAG51591;CAD97661;EAW72575;NP_570602;P04217 Hs.529161;Hs.709582 1721049;1771488;2158079;5015861;5016781;5022651;5024039;5037552;5109663;7185938 D10S16;D11S2921;D16S325;D7S2067E;D8S2279;G59506;RH65092;SHGC-67307;WI-16009 A1B;ABG;DKFZp686F0970;GAB;HYST2477 alpha-1B-glycoprotein APPROVED protein-coding ENSG00000121410 5 00726 138670 REVIEWED 734223 A4GALT alpha 1,4-galactosyltransferase The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. [provided by RefSeq, Jul 2008] 22 22 q13.2 41418071 41446820 - 43088127 43116876 - 1300231;1580863;6480464;6907045 7795329 10747952;10748143;19470247;19139081;18757779;18067504;16212661;15489334;15142124;12888565;12477932;11896312;11782470;10993874;10854428;10591208;16712791;20732996;20837469;20971946;21186071;21092013;22965229;20961863 53947 Q6RJV6;Q9NPC4 AB037883;AB041418;ABBA01017929;AF513323;AF513326;AF513327;AJ245581;AK074388;AK312927;AL049757;AMYH01012822;AY166861;AY166862;AY166863;AY358074;AY496228;AY496229;AY496230;AY941797;BC017068;BC055286;CB150578;CH471138;NG_007495;NM_017436;Z82176 AAH17068;AAH55286;AAO39149;AAO39150;AAO39151;AAP47164;AAP47167;AAP47168;AAQ68076;AAS77214;AAS77215;AAS77216;AAX20109;ABM82545;ABM85737;BAA94503;BAA95915;BAG35771;CAB93532;EAW73274;NP_059132;Q9NPC4 Hs.105956 1341545;1685636;1797228;2143287 A4GALT_673;D22S417;D22S559;RH98428 A14GALT;A4GALT1;Gb3S;P(k);P1;P1PK;PK CD77 synthase;GB3 synthase;P blood group (P one antigen);P(k) antigen synthase;P1/Pk synthase;UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase;alpha-1,4-N-acetylglucosaminyltransferase;alpha4Gal-T1;globotriaosylceramide synthase;lactosylceramide 4-alpha-galactosyltransferase APPROVED protein-coding 18149 06390 111400;607922 REVIEWED 1604681 AACSP1 acetoacetyl-CoA synthetase pseudogene 1 5 5 5 q35.3 173819191 173830764 - 178126805 178148409 - 178191862 178203277 - 12477932;10682835 729522 AA954365;ABBA01010006;AC113348;AC126915;AMYH01015946;BC024222;BC140764;BC144474;DR008193;NR_024035 AAI40765 Hs.382790 1715233;2122465 D5S2536;RH119867 AACSL APPROVED pseudo 18226 VALIDATED 733348 A1CF APOBEC1 complementation factor Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 q11.23 52236331 52315441 - 52559169 52645435 - 1300341;1300239;6480464 734901;704405 11871661;10669759;12896982;12881431;10781591;16055734;15164054;15148397;14702039;12477932;11815617;11752456;11718896;11577082;11571303;11352648;11329013;11134005;11072063;10833526;19932086;18029348;22318606;23263486 29974 B4E1E3;F8W9F8;Q5T0W7;Q9NXC9 ABBA01052491;AF209192;AF271789;AF271790;AJ272078;AJ272079;AK000324;AK130022;AK291982;AK303801;AL512366;AL589794;AMYH01002736;BC022263;BC054873;BC130519;BC144194;BC144196;BG188383;CH471083;CR749831;NG_029916;NM_001198818;NM_001198819;NM_001198820;NM_014576;NM_138932;NM_138933 AAF34824;AAF76221;AAF76222;AAH54873;AAI30520;AAI44197;BAA91086;BAF84671;BAG64755;CAB94754;CAB94755;EAW54133;EAW54134;EAW54135;EAW54136;EAW54137;EAW54138;NP_001185747;NP_001185748;NP_001185749;NP_055391;NP_620310;NP_620311;Q9NQ94 Hs.282795 1644398;1699864;2109023;2116001;2123823;2164434;2164436;5094146 A006G44;ACF_9619;D10S1464;G20794;G54572;RH103539;RH46928;RH70135 ACF;ACF64;ACF65;APOBEC1CF;ASP;MGC163391;RP11-564C4.2 APOBEC-1 stimulating protein;APOBEC1 complementation factor;APOBEC1-stimulating protein;OTTHUMP00000019611;OTTHUMP00000019612;OTTHUMP00000019614;OTTHUMP00000019615;apo-B RNA editing protein;apobec-1 complementation factor (ACF) (ASP);apobec-1 complementation factor, apobec-1 stimulating protein APPROVED protein-coding 24086 10627 REVIEWED 732340 AACS acetoacetyl-CoA synthetase 12 12 12 q24.31 125154148 125231815 + 124115878 124193824 + 125549925 125627871 + 1300048;2301022;2326093;2326191;6480464;6907045 12034369;15877199;19219059 18660489;17762044;14702039;12623130;12477932;9671465;4073493;20102333;21139048;21890473 65985 E7EW25;F5GWW7;F5GYN1;F5GYW2;F5H3E3;F5H4V2;F5H6X9;F5H790;F5H8J5;F8W8B5;Q9HA19 AB054121;ABBA01060343;ABBA01060344;ABBA01060345;ABBA01060346;ABBA01060347;ABBA01060348;ABBA01060349;ABBA01060350;ABBA01060351;AC122688;AK022451;AK022740;AK024036;AK024760;AK123245;AK304176;AK308779;AL833047;AMYH01004854;AY091468;BC004997;BC036694;BC040490;BC040574;BC041000;BC051862;CH471054;NM_023928 AAH04997;AAH36694;AAH40490;AAH40574;AAH41000;AAH51862;AAM44124;BAB14040;BAB14216;BAB14793;BAB14991;BAD22560;BAG65058;CAH56309;EAW98473;EAW98474;EAW98475;NP_076417;Q86V21 Hs.656073 2115113;2174109;5015739 A004F14;D21S1952;RH79052 ACSF1;FLJ12389;FLJ41251;SUR-5 OTTHUMP00000239025;acetoacetate-CoA ligase;acetoacetyl-CoA synthetase;acyl-CoA synthetase family member 1;homolog of C. elegans supressor of ras 5 (sur-5);protein sur-5 homolog protein-coding ENSG00000081760 21298 12391 614364 VALIDATED 1348447 A4GNT alpha-1,4-N-acetylglucosaminyltransferase This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 136267340 136276009 - 139325756 139333897 - 137842560 137851229 - 1580863;2325199 16441422 10430883;18029348;15489334;12594234;12477932;11304796;8125298;19751437;20379614;22307328 51146 Q9UNA3 ABBA01059096;AC023049;AF141315;AK225668;AMYH01013531;BC119639;BC119640;CH471052;NM_016161 AAD48406;AAI19640;AAI19641;EAW79084;NP_057245;Q9UNA3 Hs.278960 1792960;2109017 A4GNT_9671;PMC17720P1 MGC149493;alpha4GnT OTTHUMP00000216632;alpha-1,4-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000118017 17968 12390 REVIEWED 737554 AADAC arylacetamide deacetylase Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008] 3 3 q25.1 153014551 153028966 + 151531861 151546276 + 1580863;6480464 9665742;11481320;18029348;10318829;15152005;8063807;19343046;15489334;12721789;12477932;9299245;2043131;20694011;17936933;19339378;20379614;22415931;21856291;22318606 13 C9K0E9;P22760 ABBA01058902;AC068647;AK290628;AMYH01013580;AV705031;BC020706;BC032309;CH471052;L32179;NM_001086 AAA35551;AAH32309;BAF83317;EAW78791;EAW78792;NP_001077;P22760 Hs.506908 1719865;1775443;2116237;2218966;5024050 AADAC__4228;D3S4189;RH124029;RH36344;STS-L32179 CES5A1;DAC OTTHUMP00000216826;OTTHUMP00000216827;arylacetamide deacetylase;arylacetamide deacetylase (esterase) APPROVED protein-coding ENSG00000114771 17 02640 600338 REVIEWED 1606396 AADACL2 arylacetamide deacetylase-like 2 3 3 3 q25.1 149869849 149893701 + 152934405 152958242 + 151451704 151475556 + 17562024;12477932;17207965 344752 F8WFE5;Q6P093 ABBA01058902;ABBA01058903;AC069067;AMYH01013580;BC065724;BX118873;BX647585;CH471052;CU449274;NM_207365 AAH65724;ADQ32028;CAI46075;EAW78796;EAW78797;NP_997248;Q6P093 Hs.144710 1661016;1723779;2184906 RH118627;RH67844;STS-D25713 MGC72001 OTTHUMP00000208912;arylacetamide deacetylase-like 2 protein-coding ENSG00000197953 24427 14705 VALIDATED 1602438 AADACL3 arylacetamide deacetylase-like 3 1 1 1 p36.21 11888626 11901234 + 12698705 12711313 + 12776118 12788726 + 16710414 126767 Q5VUY0 ABBA01003098;AK127828;AL513016;AMYH01000261;NM_001103169;NM_001103170 BAG54581;NP_001096639;NP_001096640;Q5VUY0 Hs.464705 1756027 SHGC-142838 RP11-474O21.3 OTTHUMP00000001868;OTTHUMP00000001869;arylacetamide deacetylase-like 3 protein-coding ENSG00000188984 32037 VALIDATED 1603850 AADACL4 arylacetamide deacetylase-like 4 1 1 1 p36.21 11817069 11839616 + 12627153 12649684 + 12704566 12727097 + 16710414;23251661 343066 Q5VUY2 ABBA01003095;ABBA01003096;AL513016;AMYH01000261;CH471130;NM_001013630 EAW71744;NP_001013652;Q5VUY2 Hs.209954 1692760 AL034145 OTTHUMP00000001872;arylacetamide deacetylase-like 4 protein-coding ENSG00000204518 32038 15402 PROVISIONAL 735738 A2M alpha-2-macroglobulin Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq, Jul 2008] 12 12 p13.31 9111571 9159825 - 9220304 9268558 - 1302534;1300322;1300048;1549856;1598509;1331525;1598512;1598513;1300321;1358261;1580863;1549857;2298922;1598407;6480464;6484113;6907045;7240710 9697696;10319853;12494268;9843780;15118671;16538883;14960360;2475424;15509519;11498265;12809600 11435418;9714181;10880251;12538697;18029348;59727;14718574;19105203;19074141;18706476;18579803;18499670;18382889;18171086;18077315;17967834;17608619;17453620;17403113;17288987;17071617;16910174;16784755;16650578;16641085;16456795;16407218;16402284;16384981;16335952;16297527;16232083;16040006;15931081;15910735;15908432;15793779;15611997;15511627;15489334;15468911;15023809;14760718;14759632;14715656;14678766;14675603;14637088;14506912;12966032;12782964;12782337;12755687;12755614;12754519;12631277;12477932;7680268;7533769;7533162;7519849;6203908;6195065;6191979;6172288;6167263;6165619;6153632;3289986;2581245;2476070;2460294;2459995;2430963;2408344;1707161;1697852;1692292;1374237;1370808;1281457;89758;7690356;7524416;1724156;10681572;1702714;12394648;12221172;12194978;12175343;12123860;12062545;12059070;12042276;12015318;11987698;11916201;11910179;11901360;11823454;11811950;11496365;11484172;11455130;11436125;11290389;11281447;11231028;11166925;11162584;11121179;11100124;11099722;11058789;11036822;11023837;10731476;10714547;10652313;10373500;9865955;9831625;9724081;9344465;9166830;8583572;14687906;15950906;8662763;15226301;15231748;15862967;16169070;16289162;18191876;19639019;20048078;20207732;20381197;20401725;20493925;2466831;2467766;6698368;80233;9398211;9428387;18075673;19472074;20156641;23397525;19913121;20587546;20628086;20637261;20575108;20800603;20861575;21216953;21163940;21642630;22971340;23643808;18624398;21541797;21900206;21971609;22541546;22576683;20301340;17110338;20085233;21988832;23089609;23353684;23086799;23064953 2 F5H1E8;F8W7L3;H0YFH1;H0YGH6;P01023 AB209614;ABBA01012257;AC007436;AF349032;AF349033;AK307832;AK312482;AMYH01004244;AY591530;BC026246;BC040071;BX504041;BX647329;CH471116;CR749334;M11313;M36501;NG_011717;NM_000014;X68728;X68729;Z11711 AAA51551;AAA51552;AAH26246;AAH40071;AAK38109;AAK38110;AAT02228;BAD92851;CAA48670;CAA77774;CAH18188;EAW88590;NP_000005;P01023 Hs.212838 1662765;1694930;1721679;1741555;1794408;2127497;2139910;2162034;5091865;5096722;5108442;5109727 D12S1160E;D12S1395E;G44356;G59851;GDB:181517;PMC311069P4;RH11157;RH1601;RH46356;RH70338;SGC31674;SGC33440 A2MD;CPAMD5;DKFZp779B086;FWP007;S863-7 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5;OTTHUMP00000196829;alpha-2-M;alpha-2-macroglobulin APPROVED protein-coding ENSG00000175899 7 00072 103950;104300;614036 REVIEWED 1313944 AAED1 AhpC/TSA antioxidant enzyme domain containing 1 9 9 9 q22.32 69845106 69859172 - 98443354 98457420 - 99403533 99417599 - 6480464 16341674;15164053;12477932;12234665;14710190;19322201 195827 H0Y5J5;H0Y7F1;Q7RTV5 ABBA01043573;ABBA01043574;ABBA01043575;AL353578;AMYH01021546;BC136501;BC136503;BF445089;BK000255;BM843088;BU631382;CH471174;NM_153698 AAI36502;AAI36504;DAA00065;EAW92661;EAW92662;EAW92663;NP_714542;Q7RTV5 Hs.44640 1336988 D12S1672 C9orf21 OTTHUMP00000021724;OTTHUMP00000021725;OTTHUMP00000021726;UPF0308 protein C9orf21;ahpC/TSA antioxidant enzyme domain-containing protein 1;hypothetical protein LOC195827;thioredoxin-like protein AAED1 APPROVED protein-coding 16881 18571 VALIDATED 1606004 AADAT aminoadipate aminotransferase This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Two alternative transcripts encoding the same isoform have been identified, however, additional alternative transcripts and isoforms may exist. [provided by RefSeq, Jul 2008] 4 4 q33 171217948 171247947 - 170981373 171011372 - 2290313;2290312;6480464;6907045 3400092;6466295 12126930;18056996;18056995;15489334;14702039;12477932;10441733;8087205;1798692;17207965;20877624;18620547;21473761;21712776;23408906 51166 D6RC56;D6REB9;D6RFY7;Q4W5N8;Q8N5Z0 ABBA01070343;AC084866;AF481738;AI190763;AK055952;AK314729;AMYH01014706;BC031068;CH471056;NM_016228;NM_182662 AAH31068;AAM09683;AAY41030;ADQ32439;BAG37271;BAG51596;EAX04770;EAX04771;EAX04772;NP_057312;NP_872603;Q8N5Z0 Hs.529735 1678037;1752677;1797230;2149339 AADAT_2008;D4S2681;RH98386;SHGC-106503 KAT2;KATII 2-aminoadipate aminotransferase;2-aminoadipate transaminase;KAT/AadAT;L kynurenine/alpha aminoadipate aminotransferase;OTTHUMP00000219261;OTTHUMP00000219264;OTTHUMP00000219276;OTTHUMP00000219277;alpha-aminoadipate aminotransferase;kynurenine aminotransferase II;kynurenine--oxoglutarate aminotransferase II;kynurenine--oxoglutarate transaminase 2;kynurenine--oxoglutarate transaminase II;kynurenine/alpha-aminoadipate aminotransferase, mitochondrial APPROVED protein-coding ENSG00000109576 17929 12392 611754 REVIEWED 1318625 AAAS achalasia, adrenocortical insufficiency, alacrimia The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 12 12 q13 51987507 52001648 - 53701240 53715412 - 1549858;1598514;1580863;6480464;7240710 15680696;16098009 12730363;19322026;19172511;19011813;18175081;16938764;16609705;16543750;16022285;15843079;15666842;15489334;15217518;15022193;14702039;12752575;12477932;12228227;11914417;11815731;11701718;11159947;11062474;8968764;8125298;20447142;10601273;19703420;19782045;19855093;20499090;20931227;21565631;23073554;18029348;16009940;21139048;21890473;21906983;18781797;21987572;22118674;21963094;21988832;22505724 8086 F8VUB6;F8VZ44;H3BU82;Q9NRG9 ABBA01008325;AC073611;AF226048;AJ289841;AJ289857;AJ297977;AK000833;AK094302;AK222509;AK293342;AL110160;AMYH01004479;AY237818;BC000659;BC018836;BT006912;CH471054;DC393722;NG_016775;NM_001173466;NM_015665 AAF86948;AAH00659;AAP35558;AAP69911;ABM84232;ABM84790;BAA91394;BAD96229;BAG56858;CAB53665;CAC17465;CAC19017;CAC19038;EAW96692;EAW96693;NP_001166937;NP_056480;Q9NRG9 Hs.369144 1736262;2146252;2149106;5020771 A008D12;D12S1190E;D12S1220E;RH15738 AAA;AAASb;ADRACALA;ADRACALIN;ALADIN;DKFZp586G1624;GL003 Allgrove, triple-A;OTTHUMP00000241954;OTTHUMP00000241955;OTTHUMP00000241957;achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A);aladin APPROVED protein-coding ENSG00000094914 13666 05646 231550;605378 REVIEWED 1603054 AAMDC adipogenesis associated, Mth938 domain containing 11 11 11 q14.1 74840499 74891881 + 77209856 77261046 + 77532208 77583398 + 6480464 15489334;14702039;12477932;17207965;20379614;21832049;21139048 28971 E9PIQ4;E9PJP1;E9PLK9;E9PNP3;E9PR47;H0YF35;K4DI89;Q9H7C9 ABBA01017417;ABBA01017418;ABBA01017419;ABBA01017420;AF092136;AK024688;AMYH01003825;AP000580;AP002812;BC002752;BC016854;CH471076;CR457332;NM_024684 AAD40378;AAH02752;AAH16854;ADQ32842;BAB14963;CAG33613;EAW75036;EAW75037;EAW75038;EAW75039;NP_078960;Q9H7C9 Hs.503357 1750507;1771090;1773037;1854952;2115639;5022651 D11S2921;G35311;RH36172;RH46290;SHGC-111817;WI-22785 C11orf67;CK067;FLJ21035;MGC3367;PTD015 OTTHUMP00000233914;OTTHUMP00000233915;OTTHUMP00000233920;UPF0366 protein C11orf67;adipogenesis associated Mth938 domain-containing protein;hypothetical protein LOC28971;mth938 domain-containing protein APPROVED protein-coding ENSG00000087884 30205 17924 PROVISIONAL 1605954 AAGAB alpha- and gamma-adaptin binding protein The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 15 15 15 q22.33-q23 44380867 44434572 - 65280420 65334128 - 67493366 67547074 - 6480464;7240710 11256614;17081983;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;10477754;16169070;20641033;23064416;21139048;19322201;23000146;22505724;8889548 79719 B4DG44;H0YL49;Q6PD74 ABBA01038804;AC012568;AC110292;AK021568;AK294402;AL136715;AL832256;AMYH01006731;AMYH01006732;BC001975;BC035852;BC047026;BC058886;BQ185328;BX648272;CB243401;CH471082;CR533540;DA160293;DA688370;DC315715;NG_033007;NM_001271885;NM_001271886;NM_024666 AAH01975;AAH47026;AAH58886;BAB13845;BAG57655;CAB66649;CAG38571;CAH10544;CAI46180;CAL37898;CAL38289;EAW77792;EAW77793;NP_001258814;NP_001258815;NP_078942;Q6PD74 Hs.254642;Hs.602761 1686572;1855868;2115361;2181916 NIB1217;RH98780;STS-AA001611;WI-14364 DKFZp667D2317;DKFZp686G08119;FLJ11506;KPPP1;PPKP1;PPKP1A;p34 alpha- and gamma-adaptin-binding protein p34 protein-coding ENSG00000103591 25662 07754 148600;614888 REVIEWED 2311262 AARD alanine and arginine rich domain containing protein 8 8 8 q24.11 114139154 114144929 + 118019664 118024403 + 117950464 117956239 + 6480464 12477932;20549515 441376 B2RU19;Q4LEZ3 AB181519;ABBA01037793;AC087350;AMYH01018983;BC140924;BC142621;NM_001025357 AAI40925;AAI42622;BAE03184;NP_001020528;Q4LEZ3 Hs.437551 1650864;5093232;5118444 A009J48;D11S3316;G32598 C8orf85 OTTHUMP00000228048;alanine and arginine-rich domain-containing protein APPROVED protein-coding 33842 VALIDATED 1313595 AAK1 AP2 associated kinase 1 Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 p14 69538631 69724481 - 69685127 69870977 - 6480464 17494869;17178891;16964243;16903783;16782842;16344560;16083285;15815621;15489334;15302935;15292237;14702039;14617351;12952931;12477932;12471243;11877461;11877457;10470851;21464124;18029348;19772629;20379614;18657069;21832049;19380743;22645275 22848 E9PG46;Q2M2I8 AB028971;ABBA01075505;ABBA01075506;ABBA01075507;ABBA01075508;AC079121;AC092431;AC114772;AC136007;AF090100;AF090101;AK055622;AK056043;AK074292;AK098797;AK124872;AK127187;AK310951;AMYH01010421;AMYH01010422;AW451954;AW969393;BC002695;BC073953;BC090950;BC104842;BC111965;BC132937;BC132939;BC143710;BX640963;BX641060;CA436375;CH471053;DA121999;DB285703;NM_014911 AAH02695;AAI04843;AAI11966;AAI43711;AAX88861;AAY14931;BAA83000;BAC86877;EAW99847;EAW99848;NP_055726;Q2M2I8 Hs.468878 1337247;1656192;1661977;1666485;1673673;1678443;1681376;1697148;1713095;1722833;1726605;1734872;1739013;1795208;2111188;2139761;2142488;2147149;2178497;5015404;5015861;5016596;5022578;5024761;5037552;5108775;5120437;7185938 A004N37;D10S16;D1S1423;D2S1631E;D2S1849;D2S1874;D2S2152;D2S420E;D3S1674;D8S2279;G60358;G62536;GDB:313505;GDB:315881;GDB:631802;HSC280_(HIRIPrep1);L17705;RH102060;RH120335;RH36415;RH36905;RH69534;RH81048;SHGC-34639;SHGC-57083;WI-13642;WI-21193 DKFZp686F03202;DKFZp686K16132;FLJ23712;FLJ25931;FLJ31060;FLJ42882;FLJ45252;KIAA1048;MGC138170;MGC164568;MGC164570 AP2-associated protein kinase 1;OTTHUMP00000202200;OTTHUMP00000202201;adaptor-associated kinase 1 APPROVED protein-coding 19679 10620 REVIEWED 736736 AANAT aralkylamine N-acetyltransferase The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 17 17 q25 71975246 71977794 + 74449433 74466199 + 1300232;1580863;1300048;2301030;2301037;2302130;6480464;6907045;7240710 12736803;18624957;16441550;17164235 19343046;8661026;19184136;19086053;18794762;18569588;17503170;15489334;15332344;14728993;12552951;12477932;12039872;11934439;11427721;11393533;11336675;11313340;9238858;7502081;2181999;8024705;19839995;20377855;20459461;8889549;20586889;17207965;21697133;21437622;21778461 15 F1T0I5;J3KMZ5;K7ERF6;K7ESH7;Q16613 AA084486;AB023793;AB023794;AB023795;AB023796;AB023797;AB593119;ABBA01028742;AC015802;AF360979;AMYH01008643;AY055827;BC069434;BC092430;BC126332;BC126334;BC143989;CH471099;NG_015976;NM_001088;NM_001166579;U40347;U40391 AAC50554;AAC50555;AAH69434;AAH92430;AAI26333;AAI26335;AAK49981;ADQ32919;BAB20312;BAB20313;BAB20314;BAB20315;BAB20316;BAJ84059;EAW89400;NP_001079;NP_001160051;Q16613 Hs.431417 2216962 AANAT_2920 AA-NAT;DSPS;SNAT arylalkylamine N-acetyltransferase;arylalkylamine n - acetyltransferase;serotonin N-acetyltransferase;serotonin acetylase APPROVED protein-coding ENSG00000129673 19 02974 600950;614163 REVIEWED 1607091 AAMP angio-associated, migratory cell protein The gene product is an immunoglobulin-type protein. It is found to be expressed strongly in endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics. The protein contains a heparin-binding domain and mediates heparin-sensitive cell adhesion. [provided by RefSeq, Jul 2008] 2 2 q35 218837096 218843137 - 219128852 219134893 - 7743515;18634987;16344560;15489334;15146197;12477932;11969303;10329261;8660919;8125298;16169070;19535145;20237496;21172430;21297633;21163940;22863883;22990118;22505724;22797925;21139048;21890473;21900206;21906983;21963094;23000965;23564791;23470693 14 C9JEH3;C9JG97;C9JTS3;H7C0R2;Q13685 AB209790;ABBA01023875;AC021016;AK131047;AK225078;AMYH01011494;BC008809;BC014122;BC020244;BC039866;BG534787;CH471063;CN277005;CR456755;DA465288;M95627;NG_033036;NM_001087 AAA68889;AAH08809;AAH20244;AAH39866;BAD93027;CAG33036;EAW70599;EAW70600;EAW70601;NP_001078;Q13685 Hs.83347 OTTHUMP00000207408;OTTHUMP00000207409;OTTHUMP00000207410;angio-associated migratory cell protein APPROVED protein-coding ENSG00000127837 18 04600 603488 REVIEWED 1606160 AASDH aminoadipate-semialdehyde dehydrogenase 4 4 4 q12 54710829 54760021 - 56899213 56948395 - 57204456 57253638 - 6480464 17762044;15865210;15198809;12712191;12477932;11230166 132949 D6RJA2;E9PH98;G3V0G4;Q96BW4;R4GNB1 ABBA01003422;ABBA01003423;ABBA01003424;AC068620;AF161436;AF516672;AK294332;AK303733;AK304309;AK316296;AMYH01014194;AY314787;AY422212;BC015096;BC071815;BC141824;BC142709;BX640635;BX648853;CH471057;NM_181806 AAF28996;AAH71815;AAI41825;AAI42710;AAP76519;AAQ83120;AAR31184;BAG57604;BAG64707;BAG65162;BAH14667;CAH56130;CAH56482;EAX05484;EAX05485;EAX05486;NP_861522;Q4L235 Hs.104347 1337502;2113768 AB050266;D4S3000 ACSF4;LYS2;NRPS1098;NRPS998 2-aminoadipic 6-semialdehyde dehydrogenase;OTTHUMP00000159061;OTTHUMP00000219036;OTTHUMP00000219037;OTTHUMP00000219039;acyl-CoA synthetase family member 4;non-ribosomal peptide synthetase 1098;non-ribosomal peptide synthetase 998 protein-coding ENSG00000157426 23993 12398 614365 VALIDATED 1321623 AARS2 alanyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011] 6 6 6 p21.1 45819616 45834241 - 44374441 44389041 - 44266463 44281063 - 6480464 15779907;15489334;14574404;12477932;12421765;10737800;10574462;20877624;15146197;15161933;21549344;22277967;21139048;21906983;18029348 57505 Q5JTZ9 AB033096;ABBA01050640;AL353588;AL536467;AMYH01016322;BC013593;BC021131;BC033169;BC041026;BC128175;BC131728;BF768723;CH471081;CN343332;NG_031952;NM_020745 AAH13593;AAH33169;AAI28176;AAI31729;BAA86584;EAX04268;NP_065796;Q5JTZ9 Hs.158381 1336615;5020740;5022651;5024413;5037552 D11S1286;D11S2921;D8S2279;L17809;L17877 AARSL;COXPD8;KIAA1270;MT-ALARS;MTALARS;bA444E17.1 OTTHUMP00000016528;alaRS;alanine tRNA ligase 2, mitochondrial (putative);alanine--tRNA ligase;alanine--tRNA ligase, mitochondrial;alanyl-tRNA synthetase 2, mitochondrial (putative);alanyl-tRNA synthetase, mitochondrial;alanyl-tRNA synthetase-like;probable alanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000124608 21022 12397 612035;614096 REVIEWED 1312500 AARS alanyl-tRNA synthetase The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008] 16 16 q22 68843798 68880913 - 70286297 70323412 - 1298623;1580863;6480464;7240710 8595897 16751776;21549344;7654687;15489334;12477932;11829477;11532948;10508479;8125298;8076819;2915692;7761427;17081983;22573628;21319273;20045102;22863883;22009580;21139048;21890473;21906983;20301462;22586326;22939629;16263121;19738201;19805454;21963094;22623428;23000965;22053931;22505724 16 H3BPK7;P49588 ABBA01010671;ABBA01010672;ABBA01010673;AC009060;AC012184;AC093491;AK222824;AK225116;AK299098;AK307782;AMYH01007784;BC011451;BG764123;BU178772;CH471241;D32050;DQ591736;NG_023191;NM_001605 AAH11451;ABM82560;ABM85750;BAA06808;BAD96544;BAG61157;EAW51838;EAW51839;EAW51840;NP_001596;P49588 Hs.315137 1662218;1777544;2132308;2218170;5024085 A002L29;AARS__4231;D16S2972;RH65736;RH66606 CMT2N alaRS;alanine tRNA ligase 1, cytoplasmic;alanine--tRNA ligase;alanine--tRNA ligase, cytoplasmic;alanyl-tRNA synthetase, cytoplasmic;renal carcinoma antigen NY-REN-42 APPROVED protein-coding ENSG00000090861 20 03042 601065;613287 REVIEWED 1322325 AAR2 AAR2 splicing factor homolog (S. cerevisiae) This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 20 20 20 pter-q12 31573223 31593632 + 34287861 34308267 + 34824447 34844853 + 6480464 22939629;16189514;15489334;12665801;12477932;11780052;11230166;10810093;17207965;16196087;20360068;21139048;21890473;21906983;21145461;22505724;22797925 25980 A2A2Q9;Q9Y312 ABBA01019127;AF113672;AF132957;AL117419;AL121895;AMYH01011878;AW006181;BC001751;BC019311;CH471077;HY019727;NM_001271874;NM_015511 AAD27732;AAF29578;AAH01751;AAH19311;ADQ32438;CAB55913;EAW76141;EAW76142;EAW76143;NP_001258803;NP_056326;Q9Y312 Hs.11314;Hs.744306 1677040;1755233;2123971 RH80496;SHGC-142131;SHGC-64252 C20orf4;CGI-23;DKFZp564N1363;bA234K24.2 OTTHUMP00000030846;OTTHUMP00000178583;hypothetical protein LOC25980;protein AAR2 homolog;uncharacterized protein C20orf4 APPROVED protein-coding ENSG00000131043 15886 12767 REVIEWED 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 17 17 17 q21.31 37758676 37788796 - 38356069 38385546 - 41102543 41116515 - 6480464 12477932;8889549;7545954;16344560;15489334;14702039;22863883;15342556;21139048;21693764;21890473;21906983;21963094;22505724 80755 H7C1K1;K7EQ85;K7N799;L7N2F4;L7N2F5;Q9BTE6 ABBA01006395;ABBA01006396;ABBA01006397;ABBA01006398;AC055866;AK309477;AL515977;AMYH01008398;AW296090;BP368900;CA951145;NM_001261434 NP_001248363;Q9BTE6 Hs.317403 1690628;1775214;2148148;5108931 D17S1142;RH47203;RH99229;SHGC-34202 MGC2744 OTTHUMP00000204017;OTTHUMP00000204018;OTTHUMP00000204019;OTTHUMP00000204020;OTTHUMP00000204130;alanyl-tRNA editing protein Aarsd1;alanyl-tRNA synthetase domain-containing protein 1 protein-coding ENSG00000266967 28417 14524 613212 VALIDATED 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 22 102699 1322778 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008] 11 11 11 q22 103112558 103133685 + 105453502 105474629 + 105948292 105969419 + 1580863;6480464;6907045 11286508;11042152;10931946;10810093;12477932;12815048;16189514;15489334;18022563;19615732;19933275;22863883;22990118;21987572;20972266;21139048;21890473;21906983;22053931;22505724 60496 B4DDW7;E9PLW6;E9PNF3;Q9NRN7 AB072896;ABBA01039900;AF136978;AF151057;AF151838;AF201943;AF302110;AK293362;AK312529;AL050073;AMYH01004007;AP001001;BC015470;BC016728;BX537665;CH471065;NM_015423 AAD34075;AAF36143;AAF86879;AAG30872;AAG49439;AAH15470;AAH16728;ABM82268;ABM85450;BAG35428;BAG56878;CAB43257;EAW67077;EAW67078;NP_056238;Q9NRN7 Hs.524009 1666128;1718341;2139890;2147643;2174951;5115319 D11S2325E;D11S4277;NIB321;RH11761;RH122942;WI-15672 AASD-PPT;CGI-80;DKFZp566E2346;LYS2;LYS5 4'-phosphopantetheinyl transferase;L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase;LYS5 ortholog;OTTHUMP00000232353;OTTHUMP00000232354;alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase APPROVED protein-coding ENSG00000149313 14235 09675 607756 REVIEWED 1321929 AASS aminoadipate-semialdehyde synthase This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 116522826 116593571 - 121503423 121561112 - 121713598 121784344 - 1300048;6480464;6907045;7240710 10775527;10567240;16344560;14702039;12853948;12690205;9847074;8889548;8125298;18029348;20877624;12477932;20811636;17314511;20186120;20467438;21890473;21906983 10157 A4D0W4;F8WAH1;F8WE53;H7C0C6;Q9UDR5 AACC02000001;ABBA01057750;AC006020;AF229180;AJ007714;AK023446;AK225898;AK294326;AMYH01017898;BC144246;BC144247;BM669241;CH236947;CH471070;DA995180;NG_008140;NM_005763 AAF03526;AAF44328;AAI56457;AAI72503;BAG51195;BAG57598;CAA07619;EAL24343;EAW83564;EAW83565;NP_005754;Q9UDR5 Hs.156738 1655942;1669482;2164710;2169275;2176433;2186499;5014051;5022200;5037552 A004U04;D8S2278;D8S2279;GDB:6028507;L18426;RH12669;RH46945;RH66224;STS-N81025 LKR/SDH;LKRSDH;LORSDH OTTHUMP00000211399;OTTHUMP00000211400;OTTHUMP00000211402;alpha-aminoadipate semialdehyde synthase;alpha-aminoadipic semialdehyde synthase, mitochondrial;aminoadipic semialdehyde synthase;lysine-2-oxoglutarate reductase;lysine-ketoglutarate reductase /saccharopine dehydrogenase APPROVED protein-coding 17366 05489 238700;268700;605113 REVIEWED 2304510 AATK-AS1 AATK antisense RNA 1 17 17 17 q25.3 75768565 75786300 + 76753902 76771559 + 79139307 79156964 + 12477932 388428 Q6ZT90 ABBA01032127;ABBA01032128;ABBA01032129;AC027601;AC115099;AK126811;AMYH01008706;AMYH01008707;BC140737;BC171777;CH471099;NR_027255 BAC86704;EAW89630 Hs.591202 FLJ44861 APPROVED miscrna ENSG00000225180 40053 16976 VALIDATED 1317702 AATK apoptosis-associated tyrosine kinase The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 q25.3 76705160 76721740 - 79091095 79139872 - 1580863;6480464 14521924;18029348;17651901;16969489;15489334;14702039;12670708;12477932;12168954;11314040;11314039;10837911;10083745;9734811;14563843;23080069;22321011;23251661 9625 H7C175;I3L360;I3L461;Q6ZMQ8 AB014541;ABBA01032123;ABBA01032124;ABBA01032125;ABBA01032126;ABBA01032127;ABBA01238725;AC115099;AK094931;AK131395;AK131529;AK309099;AMYH01008706;BC047378;BI256809;NG_029981;NM_001080395;NM_004920 AAH47378;BAA31616;BAD18544;BAD18667;NP_001073864;NP_004911;Q6ZMQ8 Hs.514575 1697596 RH102309 AATYK;AATYK1;KIAA0641;LMR1;LMTK1;p35BP CDK5-binding protein;OTTHUMP00000163589;OTTHUMP00000163590;brain apoptosis-associated tyrosine kinase;lemur tyrosine kinase 1;p35-binding protein;serine/threonine-protein kinase LMTK1 APPROVED protein-coding ENSG00000181409 21 05591 605276 REVIEWED 1347313 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008] 17 17 17 q24 63715654 63812482 - 64655743 64752551 - 67144148 67240956 - 1580863;6480464 16094384;15489334;12821155;12477932;11435397;8894702;21145461 10349 E5RFN6;E5RFP5;H0YBL8;K7EMH5;K7ERP5;Q8WWZ4 ABBA01028948;ABBA01028949;AC005495;AK298508;AK310858;AL832004;AMYH01008594;AMYH01008595;AY028900;AY247065;AY247105;BC031026;BC051320;BC136460;BC144124;C16161;CH471099;NM_080282 AAH31026;AAH51320;AAI66667;AAK30025;AAO72160;AAO72161;BAG60714;CAD89903;EAW89077;EAW89078;NP_525021;Q8WWZ4 Hs.25377 1644404;1778298;2131940 SHGC-67596;STS-N22346;STS-R46526 EST698739 ATP-binding cassette A10;ATP-binding cassette sub-family A member 10;OTTHUMP00000227288;OTTHUMP00000227360 APPROVED protein-coding ENSG00000154263 30 12400 612508 REVIEWED 734398 AATF apoptosis antagonizing transcription factor The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008] 17 17 q12 32380288 32488284 + 35306175 35414171 + 1580863;6480464 15231747;17157788;10580117;18029348;12429849;18341201;17488777;17468107;17081983;17006618;16565220;16189514;15635413;15489334;15207272;14761944;14702039;14697667;14627703;12847090;12477932;12450794;11790298;11027528;21145461;10783144;20532202;20708154;12376548;12787561;18049476;19834535;20025740;19454010;20211142;22909821;21252943;19471022;21139048;21693764;21890473;21906983;21987572;22586326;21963094;21988832;22751105;22933572;23000965;22505724;22797925;22678362;23251661 26574 K7EK88;K7ENE9;K7ERC2;Q9NY61 ABBA01012433;ABBA01012434;ABBA01012435;AC003103;AC023315;AF083208;AF161395;AJ249940;AK026173;AK057229;AMYH01008361;BC000591;CH471199;NM_012138 AAD52016;AAF28955;AAH00591;ABM83023;ABM86216;BAG51888;CAB57451;EAW57575;NP_036270;Q9NY61 Hs.195740 1337147;1729701;2120412;2164955;2184303 A007I45;D17S1867;D17S581;G09336;WI-11337 CHE-1;CHE1;DED apoptosis-antagonizing transcription factor;protein AATF;rb-binding protein Che-1 APPROVED protein-coding ENSG00000108270 19235 12236 608463 REVIEWED 1346566 ABCA11P ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene 4 4 4 p16.3 360935 409700 - 409224 457918 - 419224 467998 - 6480464 16344560;14702039;12477932 79963 Q4W5N1 ABBA01019327;ABBA01019328;AC092574;AK024359;AK303674;AMYH01013833;AMYH01013834;BC040413;BC060316;BC098116;BC098259;BC098291;BC099730;BC105084;BC112069;CH471131;DA501191;NR_002451 AAY41037;BAB14895;BAG64671;EAW82667;Q4W5N1 Hs.428360 1644404;2178602;2180166;5093954 A009Z27;G33021;RH36065;SHGC-67596 ABCA11;EST1133530;FLJ14297;FLJ57767;MGC120309;MGC120310;MGC120312;MGC132744;MGC138274 atp-binding cassette, sub-family a (abc1), member 11 APPROVED pseudo 31 08597 VALIDATED 736157 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008] 9 9 q31.1 106583104 106730257 - 107543283 107690527 - 1298630;1331525;1600654;1580863;1298571;1600951;1598532;1598533;1598534;1598547;1300323;1601092;1300233;1300234;2312576;6480464;6484679;7240710 8088782;15118671;16258026;10431236;11086027;16941710;17026988;15995177;12507911;15024730;17287470;11423537;10760292;18003760;21718801 12235128;7766993;22262807;15140889;15135251;15102890;15066991;15033469;14993242;14986172;14967823;14967052;14962947;14767869;14754908;14734645;14702039;14701850;14701812;14681836;14668333;14660648;14644402;14576201;14570867;14560020;14559902;12966036;12952980;12928428;12870173;12869555;12860256;12813037;12804586;12763760;12730295;12709788;12706378;12700893;12624133;12615681;12600975;12600718;12576507;12562845;12551894;12535741;12511593;12509412;12477932;15158913;12426219;12359250;16443932;12084722;16702602;15469992;11162594;14747463;17305370;11855831;15163665;18490524;14701824;10525055;19606474;19556522;19538231;19528336;19489872;19474452;19420105;19343046;19341173;19336370;19304576;19304534;19295162;19287193;19285487;19268428;19261092;19258317;19201688;19170766;19168441;19151332;19148283;19133158;19131637;19099922;19070858;19060911;19060906;19059534;19056482;19019193;18996286;18955690;18927546;18927311;18841006;18820007;18805791;18803945;18789440;18782758;18782226;18776170;18767813;18762171;18711208;18706283;18676680;18660489;18640393;18621447;18617649;18583707;18566305;18523221;18484747;18468402;18385134;18354102;18343215;18287097;18252847;18239666;18220685;18219093;18218626;18215356;18199144;18193044;18193043;18164264;18097620;18057374;17992631;17991739;17951323;17923263;17855807;17700364;17690481;17689273;17656736;17608096;17556657;17553166;17550732;17521614;17510949;17510946;17510466;17481640;17430597;17412755;17407076;17383594;17372331;17368464;17335784;17324514;17268197;17241464;17196163;17135600;17135302;17121837;17113061;17082211;17070530;17020879;17001213;16928680;16902247;16901265;16879828;16873719;16870193;16855366;16825673;16806540;16806233;16770077;16763159;16730733;16725228;16709568;16596262;16542392;16505586;16500904;16497665;16456089;16446539;16429166;16418537;16410457;16343503;16313984;16254209;16235041;16226177;16207713;16192292;16192291;16192290;16192289;16192288;16192287;16192286;16192285;16192284;16192283;16192282;16192281;16192279;16192278;16192277;16192276;16192275;16192274;16192273;16192272;16192271;16192270;16192269;16166555;16157450;16126721;16120575;16118212;16086925;16080812;16055210;16030523;16009332;15983222;15961705;15958302;15952113;15951431;15935359;15930518;15905177;15890646;15851589;15829498;15817453;15774904;15721294;15696473;15657615;15649702;15574409;15528481;15528463;15520867;15500734;15492319;15358760;15358117;15340333;15297675;15292375;15288432;15280376;15262183;15218032;15201080;12226704;12204794;12196520;12176027;12151852;12111371;12093886;12054535;12032171;12009425;11950847;11940086;11929608;11893753;11861672;11809185;11785958;11752403;11719471;11700048;11476965;11476961;11352567;11349008;11279031;11257261;11257260;11238261;10970803;10938021;10884428;10799318;10706591;10535983;10533863;10431238;10431237;10092505;9731541;9006906;22503545;17076584;12505994;11864601;21117950;20103810;19553242;20395597;20702810;14722086;17205124;17604270;17710129;19170196;19201410;19202195;19446537;19530967;19556721;19578796;19589783;19596329;19625176;19656776;19673941;19692168;19692220;19721717;19743957;19765707;19767535;19773416;19783654;19828131;19837407;19878569;19902402;19913121;19948975;20031551;20067955;20079340;20089670;20093111;20160193;20167577;20170916;20173014;20185793;20227257;20303467;20346718;20348106;20379614;20385819;20385826;20394740;20418488;20430392;20338636;20880529;20413849;20553836;20064972;20215580;20101560;20378541;20800056;20864672;22389325;20057170;20571217;20571754;20595220;20628086;20634891;20679960;20797885;21116278;20188211;20691829;20714348;20835684;20855565;20972250;20427018;20485864;20951680;20472936;20506155;20625316;21247457;21300560;21489276;21507939;21289254;21347282;20643408;20671065;20727372;21530801;21575609;21310416;21389634;21130966;22981231;21634116;21339300;21591583;22668585;22982414;21478209;21501868;21315358;21677398;21757691;21447678;21111593;21520210;21740892;22672264;21817095;21613373;21734188;21829447;20807164;21951852;21885853;22311493;22418575;22584245;23381994;23479619;21501700;21846716;23505323;21988832;23053993;23233737;21601208;21605865;21643759;21763656;21840005;22028339;22035022;22074701;22170052;22178419;22190032;22282358;22315319;22384526;20686565;21909109;22119192;22248050;22271762;22286219;22399527;22425645;22516753;21860089;23139370;23152888;23179156;23204179;23103472;23132909;22419126;22498566;22889411;16498633;22959828;22610793;23273975;22913458;15123239;23049088;20479131;20731376;21749932;21875686;21920460;22750655;22844345;23111454;23181436;22984509;23220274;22466164;22916037;22377775;23136402;22614118 19 B1AMI1;B1AMI2;B2RUU2;B7XCW9;Q9UN09 AB037924;AB055982;AB208839;AB445477;ABBA01042826;ABBA01042827;ABBA01042828;ABBA01042829;ABBA01042830;ABBA01042831;AF165281;AF165286;AF165306;AF165309;AF165310;AF258627;AF275948;AF285167;AF287262;AJ012376;AJ252277;AK024328;AK027864;AL353685;AL359182;AL359846;AMYH01021596;AMYH01021597;BC034824;BC146856;BU753834;BX955241;CH471105;NG_007981;NM_005502 AAD49849;AAD49851;AAD49852;AAD49853;AAD49854;AAF69513;AAF86276;AAF98175;AAI46857;AAK43526;BAB07875;BAB63210;BAD92076;BAH10664;CAA10005;CAC21428;EAW58992;EAW58993;EAW58994;NP_005493;O95477 Hs.659274 1336833;1342226;1682704;1740053;1793292;1794628;1797232;1856173;2117264;2184763;5017955;5093832 A009X28;ABCA1;ABCA1_2173;D9S1765;D9S306;D9S53;G32950;PMC207565P1;PMC33205P1;RH70166;RH81050;STS-T64961 ABC-1;ABC1;CERP;FLJ14958;HDLDT1;MGC164864;MGC165011;TGD ATP-binding cassette sub-family A member 1;ATP-binding cassette transporter 1;ATP-binding cassette transporter A1;OTTHUMP00000021833;cholesterol efflux regulatory protein;membrane-bound APPROVED protein-coding ENSG00000165029 29 02501 143890;205400;600046;604091 REVIEWED 1312110 ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 2 2 q34 215504511 215711396 - 215796266 216003151 - 1598548;6480464;7240710 12915478 17986308;12697999;19179616;17927575;17611579;17591952;17508018;16902423;16007253;15980630;15756637;14702039;11435397;10094194;8894702;8845852;20869849;12477932;19262603;19429679;20379614;20672373;21339420;21633372;22257947;21712002;21798141;20301593;22505724 26154 E9PBK1;Q86UK0 ABBA01062786;ABBA01062787;ABBA01062788;AC072062;AC114780;AF418105;AK096597;AK123578;AL080207;AMYH01011484;AMYH01011485;AMYH01011486;AY033486;AY219711;BC144073;CH471063;NG_007074;NM_015657;NM_173076;NR_103740 AAI56328;AAK54355;AAN40735;AAP21093;AAY24230;AAY24276;BAG53915;CAB45776;EAW70520;EAW70521;EAW70522;NP_056472;NP_775099;Q86UK0 Hs.134585 1751351;1753333;1916176;2107805 ABCA12_8176;REN28899;SHGC-105192;SHGC-86012 ARCI4A;ARCI4B;DKFZp434G232;FLJ41584;ICR2B;LI2 ATP-binding cassette sub-family A member 12;ATP-binding cassette transporter 12;OTTHUMP00000206681;OTTHUMP00000206683 APPROVED protein-coding ENSG00000144452 14637 07416 242500;601277;607800 REVIEWED 732065 ABAT 4-aminobutyrate aminotransferase 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p13.2 8675928 8785933 + 8768444 8878432 + 1580863;1598516;1598518;1598520;1598522;1598524;1598531;1300048;6480464;6907045;7240710 10375453;9846053;9706369;9344635;7740056;1570022 15528998;17474147;15650327;11918424;18334916;16344560;15830322;15642443;15489334;14702039;12694932;12477932;10951220;10407778;7851425;7721088;7305280;6470007;6148708;11181995;11256614;19598235;20052547;20379614;20659789;20677014;20877624;21552517;19805454 18 H3BMJ9;H3BNQ7;H3BP74;H3BP84;H3BPW8;H3BRJ1;H3BRN4;H3BRT1;P80404 AA806200;ABBA01019724;ABBA01019725;ABBA01019726;ABBA01019727;ABBA01019728;ABBA01019729;AC007224;AC012173;AF237813;AK054834;AK096146;AK290501;AK293983;AK310771;AL137454;AMYH01007137;AMYH01007138;BC008990;BC013965;BC015628;BC031413;BC075851;BG749438;BG818982;BI459888;BI602086;BX537362;CH471112;DA228305;DA300126;DA531116;DB443567;DB479117;DC335224;L32961;NG_008432;NM_000663;NM_001127448;NM_020686;S75578;U80226 AAA74449;AAB38510;AAD14176;AAG09758;AAH15628;AAH31413;ABM83995;ABM87322;BAF83190;BAH11640;EAW85207;EAW85208;EAW85209;NP_000654;NP_001120920;NP_065737;P80404 Hs.336768 1341841;1645545;1662951;1681237;1709566;1751779;1759389;1766877;1770246;1770248;1779416;1783436;2134110;5022651 A001T16;D11S2921;D16S3020;G19624;RH65230;RH69040;SHGC-105769;SHGC-151184;SHGC-152297;SHGC-153405;SHGC-156252;SHGC-2882;SHGC-52448;SHGC-81875 FLJ17813;FLJ30272;GABA-AT;GABAT;NPD009 (S)-3-amino-2-methylpropionate transaminase;4-aminobutyrate aminotransferase, mitochondrial;4-aminobutyrate transaminase;GABA aminotransferase;GABA transaminase;GABA transferase;OTTHUMP00000045876;gamma-amino-N-butyrate transaminase;hCG1984265 APPROVED protein-coding ENSG00000183044 23 00661 137150;613163 REVIEWED 2298742 ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene 16 16 16 p13.3 2605352 2690909 + 2330924 2416701 + 2390923 2476700 + 6480464 16968533;14702039;18405356;20210993 650655 ABBA01030258;ABBA01030259;ABBA01030260;ABBA01030261;AC106820;AK095200;AMYH01007057;AMYH01007058;BC042853;DQ266102;DQ660314;NR_003574 Hs.376281 1336622;1732177 D16S3124;D16S663 ABCA17;FLJ37881 APPROVED pseudo ENSG00000238098 32972 PROVISIONAL 1352197 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] 7 7 7 p12.3 48310673 48789160 + 48208389 48657637 + 48211057 48687091 + 6480464 19058789;14702039;12697998;12477932;21145461;23266639;10737800;19944402;20379614;11162594 154664 F5H7B7;H0Y4D2;H7BZI9;H7C0U5;Q86UQ4 AACC02000077;AACC02000078;AACC02000079;AACC02000080;AACC02000081;ABBA01008188;ABBA01008189;ABBA01008190;ABBA01008191;ABBA01008192;ABBA01008193;AC073424;AC073927;AC091770;AC095039;AC232300;AC232312;AF501281;AK091195;AK091270;AK126220;AK128516;AK128570;AK131360;AMYH01017234;AMYH01017235;AY204751;BC062666;BX647560;CH236955;CH471128;CV361876;FJ770081;NG_012385;NM_152701 AAO59914;AAP13576;BAC03623;BAC86492;BAC87475;CAI46091;EAW60990;EAW60991;EAW60992;NP_689914;Q86UQ4 Hs.226568 1339425;1644749;1675011;1722343;1726659;1778398;1786312;1790589;1790591;1790705;2107807;2134952;2144117;2152762;2181084;5014051;5015619;5037552 ABCA13_8175;D11S3114;D7S1570;D7S1793;D7S2367;D7S2712;D8S2278;D8S2279;G17169;G35361;G60240;G62564;GDB:1318480;GDB:1318535;HSC213_(7Gr478mb);HSC214_(7Gr48mb);HSC221_(Gap_322);SHGC-154751 DKFZp313D2411;FLJ16398;FLJ33876;FLJ33951 ATP binding cassette transporter A13;ATP-binding cassette sub-family A member 13;OTTHUMP00000208774 APPROVED protein-coding ENSG00000179869 14638 07422 607807 REVIEWED 1319792 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008] 1 1 p22 94230981 94359293 - 94458393 94586705 - 1580863;1598551;1598552;6480464;6893650;7240710 9295268;9466990;21447403 22427542;22395892;9054934;9202155;19430638;19365591;19365039;19352439;19343046;19074458;19056738;19028736;19015224;18977788;18854780;18649358;18523590;18506364;18334942;18285826;18214793;18024811;17997789;17982420;17932850;17724221;17325136;17286855;16917483;16681420;16604398;16546111;16533065;16303926;15947798;15494742;15375613;15223829;15017103;12888572;12824224;12796258;12754711;12592048;12515255;12442277;12202497;12111378;11973624;11919200;11726554;11594993;11527935;11444963;11385708;11384574;11379881;11346402;11328725;11320094;11017087;10958763;10958761;10880298;10767284;10746567;10711710;10634594;10612508;10466724;10206579;10090887;10075733;9973280;9781034;22312191;19625466;22661473;22706241;9703434;9666097;9503029;9490294;9425888;9288113;9288089;9070931;8894702;8889548;20335603;12673275;19217903;19578016;19948975;19959634;20029649;20128570;20379614;20436469;20661590;20696155;20404325;20647261;20711710;19913121;20591486;20628086;20801516;19265867;20163366;21502573;21546767;23143460;21510770;22589445;21567910;23755510;22247458;21721517;21330655;21911583;21786275;22220722;21834038;22060670;20301590;22449572;23167473;23419329;22863734;22229821;23144455;23362303;22753311;22948568 24 B4DWY6;F5H5R2;F5H6E5;P78363;Q6AI28 AB210040;ABBA01045515;ABBA01045516;ABBA01045517;AC093579;AC105278;AF000148;AF001945;AF533020;AK295818;AK296896;AK301733;AK301764;AK310492;AL712362;AMYH01000805;AMYH01000806;BM686882;CH471097;CR627391;DQ426859;NG_009073;NM_000350;U66691;U88667;Y15635 AAC05632;AAC23915;AAC51144;AAI72262;AAI72565;AAP33155;ABD90529;BAE06122;BAG58635;BAG63198;BAG63224;BAH12450;CAA75729;CAH10486;EAW73056;EAW73057;EAW73058;NP_000341;P78363 Hs.416707 1653635;1654063;1695752;1705764;1714633;1781484;1797234;2166937;2177983;2180259 ABCA4_2633;AL009647;RH119981;SHGC-132421;SHGC-31244;SHGC-31368;SHGC-31446;SHGC-82674;SHGC-83480;WI-22788 ABC10;ABCR;ARMD2;CORD3;DKFZp781N1972;FFM;FLJ17534;RMP;RP19;STGD;STGD1 ATP binding cassette transporter;ATP-binding cassette sub-family A member 4;ATP-binding cassette transporter, retinal-specific;ATP-binding transporter, retina-specific;OTTHUMP00000012366;RIM ABC transporter;RIM protein;photoreceptor rim protein;retina-specific ABC transporter;retinal-specific ATP-binding cassette transporter;stargardt disease protein APPROVED protein-coding ENSG00000198691 34 03408 153800;248200;601691;601718;604116 REVIEWED 1601775 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008] 19 19 p13.3 991102 1016571 + 1040102 1065571 + 6480464 10873640;19343046;18676680;16908670;15930518;15593299;15203218;14702039;14592415;14570867;12925201;12917409;12111378;11435699;11355874;11095984;11054552;19913121;20628086;21460840;21460841;19170196;19625176;19692168;19721717;8889548;20855565;21173549;21906983;18029348 10347 B3KUJ3;E9PKG5;E9PL63;H0YCN5;H0YF58;Q8IZY2 AB055390;ABBA01002618;ABBA01002619;AC011558;AF140342;AF250238;AF311057;AF311058;AF311059;AF311060;AF311061;AF311062;AF311063;AF311064;AF311065;AF311066;AF311067;AF311068;AF311069;AF311070;AF311071;AF311072;AF311073;AF311074;AF311075;AF311076;AF311077;AF311078;AF311079;AF311080;AF311081;AF311082;AF311083;AF311084;AF311085;AF311086;AF311087;AF311088;AF311089;AF311090;AF311091;AF311092;AF311093;AF311094;AF311095;AF311096;AF311097;AF311098;AF311099;AF311100;AF311101;AF311102;AF328787;AK097344;AK301108;AK310127;AK310909;AL137481;AMYH01009222;AMYH01009223;BU675136;CD629701;CH471139;DC405492;NM_019112 AAF06727;AAF85794;AAI72426;AAK00959;AAN04657;BAB62294;BAG53455;BAG62707;CAB70762;EAW69556;EAW69557;EAW69558;EAW69559;EAW69560;EAW69561;EAW69562;EAW69563;EAW69564;NP_061985;Q8IZY2 Hs.134514 1771802;2107945;2216966;5014053 ABCA7_2692;CNN2_8268;D1S3693;RH70510 ABCA-SSN;ABCX;FLJ40025 ATP-binding cassette sub-family A member 7;OTTHUMP00000236146;autoantigen SS-N;macrophage ABC transporter APPROVED protein-coding ENSG00000064687 37 09255 605414 REVIEWED 1316207 ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008] 16 16 p13.3 2265880 2330748 - 2325879 2390747 - 1580863;1549859;6480464;7240710 15985750 21526180;9027511;8706931;15531465;11718719;19343046;19252731;18603241;18463677;18317237;18246475;18024538;17660803;17597647;17574245;17429902;16968533;16959783;16857811;16415354;16344560;15976379;15465012;15044640;12477932;11940594;20304423;19220077;19861431;19902402;20371530;21214890;20863830;20656946;23166334;22337229;21586796;21873242;22068586;21139048;21890473;23432194;21165348;22145626;22434821;22866751;22800827;22455634 21 H0Y3H2;Q4LE27;Q6P5P9;Q99758 AB070929;AB210044;ABBA01030263;ABBA01030264;ABBA01030265;ABBA01030266;AC005212;AC007162;AC009065;AC098805;AC106820;AK310864;AMYH01007057;BC020724;BC035752;BC062779;BC140895;BC146866;BC151840;BP397501;CH471112;DA109409;DQ073080;NG_011790;NM_001089;U78735;X97187 AAC50967;AAH20724;AAH62779;AAI40896;AAI46867;AAI51841;AAY57325;BAB86781;BAE06126;CAA65825;EAW85515;NP_001080;Q99758 Hs.26630 1732175;1732179;1795256;2151165;5023509;5024543 ABCA3_193;D16S291;D16S662;D16S664;D1S3690;SHGC-61174 ABC-C;ABC3;EST111653;LBM180;MGC166979;MGC72201;SMDP3 ABC transporter 3;ABC-C transporter;ATP-binding cassette sub-family A member 3;ATP-binding cassette transporter 3;OTTHUMP00000159065 APPROVED protein-coding ENSG00000167972 33 03369 601615;610921 REVIEWED 1300038 ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 17 17 q24.3 64754386 64834885 - 67240576 67323323 - 1580863;1549860;6480464 16162093 19343046;18676680;17541169;17289887;16344560;14702039;12504089;12477932;11572484;11435397;8894702;20487690;15870284;19170196;19625176;19692168;22870217;22190034 23461 E7ETD3;K7EJW6;K7EKS9;K7EMV2;K7ENF9;K7EPM3;K7EQ50;Q6N017;Q8WWZ7 AB067475;ABBA01028947;ABBA01028948;AC005495;AC115085;AJ275973;AJ512612;AK056533;AK058170;AK094416;AK096664;AK122803;AK292592;AMYH01008595;AMYH01008596;AMYH01008597;AY028897;BC029426;BC054480;BC070126;BC146819;BF448717;BX640746;BX647447;BX648540;CH471099;DB096625;NM_018672;NM_172232 AAH29426;AAI56257;AAK30022;BAB67781;BAB71208;BAB71700;BAF85281;CAB93535;CAD54757;CAE45856;EAW89080;EAW89081;EAW89082;EAW89083;NP_061142;NP_758424;Q8WWZ7 Hs.731824 1716595;1770125;1797236;2132354;5015861;5020948;5022322;5022588;7185938 ABCA5_2603;D10S16;D11S2560;D5S1597E;G35510;RH121643;RH12485;STS-W32872 ABC13;DKFZp451F117;DKFZp779N2435;EST90625;FLJ16381 ATP-binding cassette A5;ATP-binding cassette sub-family A member 5 APPROVED protein-coding ENSG00000154265 35 09789 612503 REVIEWED 732200 ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q34 139021507 139043195 - 139901686 139923374 - 1298630;1580863;6480464 8088782 16752360;16344560;15850583;15649702;15491607;15155565;15093135;12560508;12477932;12421765;12107413;10970803;10639163;10470851;1538749;15999530;7766993;12363033;15238223;11178988;11309290;19343046;18336955;17081983;20167577;19913121;20628086;15203218;21072184;21041019;20704561;21707071;21078624;21906983;22086926 20 E7EU84;E9PGB2;F8WBD2;H0Y8C9;H0Y8D6;H0Y8E3;H7C5M6;J3QSS3;Q5SPZ6;Q9BZC7 AB028985;AB177854;ABBA01022736;ABBA01022737;AF178941;AF327657;AF327658;AF327659;AF327660;AF327661;AF327662;AF327663;AF327664;AF327665;AF327666;AF327667;AF327668;AF327669;AF327670;AF327671;AF327672;AF327673;AF327674;AF327675;AF327676;AF327677;AF327678;AF327679;AF327680;AF327681;AF327682;AF327683;AF327684;AF327685;AF327686;AF327687;AF327688;AF327689;AF327690;AF327691;AF327692;AF327693;AF327694;AF327695;AF327696;AF327697;AF327698;AF327699;AF327700;AF327701;AF327702;AF327703;AF327704;AF327705;AK295489;AK308738;AL162060;AL525193;AL807752;AL833967;AMYH01021882;AMYH01021883;AMYH01021884;AMYH01021885;AMYH01021886;BC008755;BC029282;BC064542;BC090860;BC109244;BC144588;BC144589;BE273611;BF516223;BF983101;BI195329;BM314339;BM474929;BM921242;BM921499;CD612070;CD676110;CH471090;DB168116;JF279959;NG_011789;NM_001606;NM_212533;U18235;U18236 AAA84436;AAA84437;AAG09372;AAH08755;AAH64542;AAI09245;AAI72448;AAK14334;AAK14335;BAA83014;BAD66832;BAG58411;CAB82398;EAW88331;EAW88332;EAW88333;NP_001597;NP_997698;Q9BZC7 Hs.421202 1697026;2163150;5106563;5108420;5492641 D11S949E;RH101989;RH71205;STS-X78031;UniSTS:481875 ABC2;MGC129761 ATP-binding cassette 2;ATP-binding cassette sub-family A member 2;ATP-binding cassette transporter 2;ATP-binding cassette, sub-family A, member 2;OTTHUMP00000022644;OTTHUMP00000022649 APPROVED protein-coding ENSG00000107331 32 08967 600047 REVIEWED 1345233 ABCB10P1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1 15 15 q11.2 20243548 20244000 - 22689409 22693186 - 10922475;7766993 56476 ABBA01210948;AC116165;AF218417;AMYH01006367;NG_005041 ABCB10P;ABCB10P2;M-ABC2;MABC2 pseudo 14114 INFERRED 1319094 ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008] 17 17 17 q24.3 63646675 63709544 - 64586442 64649610 - 67074847 67138015 - 1580863;6480464 11435397;19343046;18676680;15489334;14702039;12477932;11478798;10639163;8894702;19170196;19625176;19692168;20379614 23460 Q8N139 ABBA01028949;ABBA01028950;AC005495;AC005922;AF373290;AF373328;AK097296;AK125487;AK308431;AMYH01008594;AY028898;BC029852;BC070125;BC125231;BC125232;NM_080284;U66680 AAH70125;AAI25232;AAI25233;AAI66682;AAK30023;AAM77557;AAM77558;BAC04994;BAG54204;NP_525023;Q8N139 Hs.709514 1335934;1723039;2216964;5037552;7186385 ABCA6_3032;D17S940;D8S2279;G60470 EST155051;FLJ43498 ABC transporter ABCA6;ATP-binding cassette A6;ATP-binding cassette sub-family A member 6 APPROVED protein-coding ENSG00000154262 36 10622 612504 REVIEWED 3516544 ABCB10P3 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3 15 15 q13.1 26318241 26323793 + 28648011 28650177 + 728248 AC091304;AC138747;AMYH01006497;NG_022122 pseudo 31129 INFERRED 3418289 ABCB10P4 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4 15 15 q13.1 26550793 26556375 - 28751773 28753939 - 100132289 AC138749;AMYH01006497;NG_022102 pseudo 31130 INFERRED 1316041 ABCA8 ATP-binding cassette, sub-family A (ABC1), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The function of this protein has not yet been determined. [provided by RefSeq, Jul 2008] 17 17 17 q24 63435265 63523392 - 64375025 64463128 - 66863430 66951533 - 1580863;6480464 12379217;19343046;15489334;14702039;12477932;12111378;11329013;10048485;8889548;23560799;21707071;20686565 10351 C9JQE6;K7ELK9;O94911 AB020629;ABBA01028951;ABBA01028952;AC005922;AC015844;AK090894;AK295876;AK304286;AK304360;AMYH01008593;BC010392;BC024003;BC037309;BC047765;BC094689;BC130280;BC143971;BC143972;BG210966;BM665457;BM707283;CH471099;NM_007168 AAH24003;AAH37309;AAH47765;AAH94689;AAI30281;BAA74845;BAG58673;BAG65144;BAG65201;EAW89068;EAW89069;NP_009099;O94911 Hs.58351 1700728;1709104;1713233;1760079;1795258;1797238;2115867;2170235;5014051 ABCA8_1040;ABCA8_2250;D8S2278;RH103989;RH120606;RH46167;RH78733;SHGC-107731;SHGC-85710 KIAA0822;MGC163152 ATP-binding cassette sub-family A member 8 APPROVED protein-coding ENSG00000141338 38 09790 612505 REVIEWED 1314254 ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 63542632 63628962 - 64482368 64568731 - 66970773 67057136 - 1580863;6480464 15489334;14702039;12477932;12150964;11435397;8894702;8889549;20877624 10350 H0Y4U7;K7EJJ0;Q8IUA7 ABBA01028950;ABBA01028951;AC005922;AF423307;AF423308;AF423309;AF423310;AF423311;AF423312;AF423313;AF423314;AF423315;AF423316;AF423317;AF423318;AF423320;AF423321;AF423322;AF423323;AF423324;AF423325;AF423326;AF423327;AF423328;AF423329;AF423330;AF423331;AF423332;AF423333;AF423334;AF423335;AF423336;AF423337;AF423338;AF423339;AF423340;AF423341;AF423342;AF423343;AF423344;AF423345;AF423346;AK057068;AK074491;AK122687;AL833712;AMYH01008594;AW130042;AY028899;BC062472;BU072174;BU076154;CH471099;CR627382;NM_080283;W84726 AAH62472;AAI67781;AAK30024;AAN32751;AAN32752;BAB71359;BAC11021;CAH10479;EAW89071;EAW89072;EAW89073;EAW89074;NP_525022;Q8IUA7 Hs.131686 1669722;1672695;1698692;1736632;2115867 D17S1474E;RH102906;RH46167;RH48279;SHGC-63484 DKFZp686F2450;EST640918;MGC75415 ATP-binding cassette A9;ATP-binding cassette sub-family A member 9;OTTHUMP00000179122;OTTHUMP00000179123 APPROVED protein-coding ENSG00000154258 39 12401 612507 REVIEWED 1322567 ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202920623 202962354 - 227718953 227761065 - 229652329 229694442 - 1580863;6480464 10922475;10748049;19343046;19151771;15252450;15215243;12477932;11829140;7766993;20877624;22939629;21139048;21890473;19322201;22085049 23456 Q9BXW0;Q9NRK6 AB013380;ABBA01009824;ABBA01009825;AF216833;AF277184;AK172794;AL121990;AMYH01001810;BC064930;CH471098;DQ786241;NM_012089;U18237 AAA84438;AAF78198;AAH64930;AAK07543;BAB20265;BAD18770;EAW69901;NP_036221;Q9NRK6 Hs.17614 1669780;1689041;1795260;1797240;2120038;5111474 A007G40;ABCB10_1042;ABCB10_2563;RH64714;RH99044;SHGC-33783 EST20237;M-ABC2;MTABC2 ABC transporter 10 protein;ATP-binding cassette sub-family B member 10, mitochondrial;ATP-binding cassette transporter 10;OTTHUMP00000037475;mitochondrial ATP-binding cassette 2 APPROVED protein-coding ENSG00000135776 41 09263 605454 REVIEWED 730944 ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008] 2 2 q24 169487695 169596079 - 169779449 169887833 - 1580863;1598583;1598580;1598571;1598596;625722;2316977;1598579;6480464;6907045;7240710 9806540;15853769;12702498;9828229;12135489;17353665;15901796 19408031;19343046;19101985;19060910;18987030;18692205;18676680;18668439;18660489;18521185;18395098;18270374;18176959;17622941;17264802;16941683;16890614;16871584;16763017;16749857;16290310;16039748;15791618;15471871;15300568;15159385;15077010;14999697;14762791;12825874;11829140;11815775;11783115;11745042;11600213;11495894;11172067;10579978;9545351;20414253;20028269;20447715;20683201;20147439;19845854;19913121;20628086;20723035;19170196;19571440;19625176;19669124;19692168;19821532;19833092;19888660;19898482;19937311;20010382;20163776;20232290;20379614;20453000;20702406;20855565;20858683;20883210;21386085;20857261;21490445;21691112;21766090;21811948;22161577;21139048;22098322;21909109;22001757;20301474;21988832;22673116;22681771 8647 H7C486;O95342 AB012959;ABBA01004960;ABBA01004961;AC008177;AC069137;AC093723;AF091582;AF136523;AK302540;AK303050;AMYH01011242;CH471058;CS016617;NG_007374;NM_003742 AAC77455;AAD28285;AAY24100;AAY24305;BAA88711;BAG63812;BAG64170;CAI54162;EAX11285;EAX11286;EAX11287;NP_003733;O95342 Hs.658439 1646882;1706866;1715589;1795262;2121616;2191485 ABCB11_675;D2S2060;MARC_23799-23800:1027535309:1;RH120938;RH66728;SHGC-80916 ABC16;BRIC2;BSEP;PFIC-2;PFIC2;PGY4;SPGP ABC member 16, MDR/TAP subfamily;ATP-binding cassette sub-family B member 11;OTTHUMP00000204927;bile salt export pump;progressive familial intrahepatic cholestasis 2;sister p-glycoprotein APPROVED protein-coding ENSG00000073734 42 04436 601847;603201;605479 REVIEWED 736946 ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008] 7 7 q21.1 86869297 86942955 - 87031361 87105019 - 1598588;1598589;1300324;1300325;1358123;6480464;6907045;7240710 12055592;11680581;9419367;8106172;12433976 7912658;19408031;19343046;19266607;19261551;19185004;19018976;18781607;18671305;18660489;18482588;18083082;17786139;17726488;17562004;17523162;17264802;17187437;16891356;16890614;16857572;16854530;16763017;16696816;15258199;15159385;15077010;14999697;14527955;12891548;12853948;12746424;12690205;12477932;12388190;12381474;12206920;11745043;11313316;10767346;9923886;8898203;7912266;7893760;7734012;3477522;2906314;2892668;2002063;9542318;19913121;20628086;20683201;18231753;20855565;21072184;19467940;19584064;19593667;19998509;20163776;20453000;20422496;20414253;19840247;21119540;22331132;23261441;21989363;21705081;21638239;21161147;22098322;22184139;21988832;22982378;19794400;22343912;22387667 5244 E7EQI1;H7C0M2;P21439 AACC02000015;ABBA01045868;AC005045;AC005068;AC006154;AMYH01017669;BC020618;BC042531;CH236949;CH471091;EF034088;M23234;NG_007118;NM_000443;NM_018849;NM_018850;X06181;Z35284;Z35286 AAA36207;AAD05023;AAH20618;AAH42531;ABJ53424;CAA29547;CAA84542;CAA84543;EAL24174;EAL24175;EAL24176;EAW76944;EAW76945;EAW76946;EAW76947;EAW76948;EAW76949;EAW76950;EAW76951;EAW76952;NP_000434;NP_061337;NP_061338;P21439 Hs.654403 1651499;1706842;1735706;1772344;1772346;1847953;2131050;2131052 A005R35;A006B20;D7S2163E;G20448;G20675;PGY3;RH17678;SHGC-80903 ABC21;GBD1;ICP3;MDR2;MDR2/3;MDR3;PFIC-3;PGY3 ATP-binding cassette sub-family B member 4;OTTHUMP00000161613;OTTHUMP00000206137;OTTHUMP00000210458;P glycoprotein 3/multiple drug resistance 3;P-glycoprotein 3;P-glycoprotein-3/multiple drug resistance-3;multidrug resistance protein 3;multiple drug resistance 3 APPROVED protein-coding ENSG00000005471 45 01371 147480;171060;600803;602347;614972 REVIEWED 730823 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. 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876;20496015;20504240;20505666;20512145;20526235;20528170;20531015;20532504;20533057;20488228;20699370;19913121;20533270;20554493;20563569;20567810;20571034;20578904;20587910;20602612;20602615;20605481;20625352;20625815;20627363;20627697;20628086;20634891;20638924;20660695;20662624;20664232;20679960;20696882;20707787;20712525;20716514;20720558;20801494;20801498;19483282;20492723;20510202;22277678;23244145;23465077;19950199;19399413;19693666;20125118;20856196;21143841;18231753;20540746;20955690;20209493;20658178;20815915;20558393;20430184;20037778;20615085;19958644;20056007;19615260;20525557;20624637;16712791;20372866;20555295;20834157;21042729;21103977;21183698;21103972;21247447;21094796;21182301;21321273;21321274;20855224;21028964;21434577;20438811;20869436;20933082;20980337;20369487;20510079;20702488;21308736;19954620;21029698;21094057;21186402;22160574;22306099;22318545;22369694;22394004;21154157;19622290;22462752;22691950;22910404;22932088;23035695;22751348;22810051;22941809;23064017;22664042;22823957;20556576;20929136;21375937;21698374;22152775;22209339;22614869;22788927;22901208;23073467;23134497;20921883;21163067;21525574;21630164;21718764;21704032;21388909;21237140;21380926;21544031;16230402;21106724;21389634;21436775;21336967;21350189;21518320;20127181;21868524;21508398;19549365;20679500;21493161;21575142;19224656;19840446;21366702;21392722;21445698;21478475;21636342;21518489;21520403;21806386;21806387;21420937;21517853;21463115;21599592;22028352;20501388;21243282;21589866;20945045;22104130;22902647;22927901;23107770;23117931;23210244;23169446;21781437;22800348;23178631;20416158;21185600;21325069;21829205;21917707;20716130;21148022;21840870;21039333;21218380;21530324;21705081;21857092;21937435;21784846;21888455;20460432;20640574;21743379;21839244;21721528;21553324;21707071;21827803;21292509;21988832;22521463;22909202;23000965;23053935;23085402;22683872;22972536;23152970;23188198;23328208;23364483;22473764;22796246;21173786;22258826;22296372;20193114;21520073;21826689;21851199;21987299;21991360;22001987;22033938;22062654;22623266;22798502;22814029;22819965;22307172;22396794;22409848;20862566;21460357;21566283;21619790;21918980;22194207;22223515;22344233;22358301;22358302;22484209;22647192;23047249;23131698;23133566;22845311;23307242;23339364;23349819;23354914;23542036;22088099;22705826;22889411;17941052;22239287;22886152;23069916;23317199;23556337;23557865;23786015;22761669;23050008;23261390;23361102;23469685;22591177;22835948;23109454;22395309;20604570;20701289;23385102;23406767;23504525;22946104;23158821;18574677;19794400;21826700;22040961;22177087;22311042;22526155;22543673;22610055;22661185;22680342;22739506;22842366;23034269;23082557;23163129;23279665;23562850;22700974;22819074;22906996;23402298;21947347;22883199;22922069;23240156;23216707;23056288;23146479;23272163;23280016 5243 A4D1D2;B5AK60;E7EWT8;P08183 AA776371;AACC02000015;AB208970;ABBA01045865;ABBA01045866;ABBA01045867;ABBA01045868;AC002457;AC005068;AF016534;AF016535;AF345625;AK290159;AK308467;AMYH01017669;AY425005;AY425006;AY425007;AY910577;BC130424;BQ720763;BQ882401;BX509020;CB164676;CH236949;CH471091;EU852583;EU854148;HQ291612;M14758;M29422;M29423;M29424;M29425;M29426;M29427;M29428;M29429;M29430;M29431;M29432;M29433;M29434;M29435;M29436;M29437;M29438;M29439;M29440;M29441;M29442;M29443;M29444;M29445;M29446;M29447;M37724;M37725;NG_011513;NM_000927;X58723 AAA59575;AAA59576;AAA88047;AAA88048;AAB69423;AAB70218;AAI30425;AAM49149;AAR83914;AAR91621;AAR91622;AAW82430;ACF94687;ACF94688;AEC13147;BAD92207;BAF82848;CAA41558;CAL38230;EAL24173;EAW76940;EAW76941;EAW76942;EAW76943;NP_000918;P08183 Hs.489033;Hs.737655 1648772;1651499;1704274;1722515;1742285;1776871;1786320;1797242;2138924;2160534;2176440;2177344;2185668 ABCB1_2602;D7S2326;D7S2414;G60182;GDB:1317232;GDB:1317328;GDB:194851;GDB:6028578;PGY1;RH17678;SHGC-154970;SHGC-56130;SHGC-83275 ABC20;CD243;CLCS;GP170;MDR1;MGC163296;P-GP;PGY1 ATP-binding cassette sub-family B member 1;ATP-binding cassette, subfamily B, member 1;OTTHUMP00000205790;P-glycoprotein 1;colchicin sensitivity;doxorubicin resistance;multidrug resistance protein 1 APPROVED protein-coding ENSG00000085563 40 01370 120080;171050;612244 REVIEWED 1351002 ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008] 7 7 p21.1 20653741 20761821 + 20655245 20796637 + 6480464 20339536;19477512;18202660;17661346;15899824;15760339;15489334;15205344;12960149;12690205;12477932;8894702;9542318;21652540;20068175;21212411;20682318;15488952;20729912;20950786;21298007;22555176;22865455;22784549;22306008;22393060;22044138;23770371;23259602 340273 H7C165;Q5I5Q7 AACC02000007;AB353947;ABBA01056675;ABBA01056676;AC002486;AC005060;AF319622;AF399931;AI334015;AK127141;AL040763;AMYH01017103;AY090613;AY230001;AY234788;AY785909;AY851364;AY851365;BC044248;BC104894;BC104920;BC110370;BM471690;BX452500;BX537763;CH236948;CH471073;GU437216;GU437217;H99394;NM_001163941;NM_001163942;NM_001163993;NM_178559 AAI04895;AAI04921;AAM09027;AAN76500;AAO73470;AAP55848;AAQ03033;AAW31629;AAW31630;AAX11382;ADV32636;ADV32637;BAF75364;EAL24273;EAL24274;EAW93726;EAW93727;NP_001157413;NP_001157414;NP_001157465;NP_848654;Q2M3G0 Hs.404102 1335436;1357237;1644523;1644641;1661812;1662580;1663799;1696020;1696840;1698562;1700314;1707262;1752745;2133396;2134029;2138910;5015619;5015861;5024039;5037552;5109281;7185938 D10S16;D11S3114;D16S325;D1S1425;D7S1802;D7S2210;D8S2279;G49164;GDB:1317506;GDB:1318030;RH102833;RH103777;RH68947;RH78896;RH78897;SHGC-106581;SHGC-53299;SHGC-79232;SHGC-83158;STS-H98780;STS-N32998 ABCB5alpha;ABCB5beta;EST422562 ABCB5 P-gp;ATP-binding cassette protein;ATP-binding cassette sub-family B member 5;OTTHUMP00000120018;OTTHUMP00000201813;OTTHUMP00000201814;OTTHUMP00000201940;P-glycoprotein ABCB5 APPROVED protein-coding ENSG00000004846 46 611785 VALIDATED 731735 ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008] 2 2 q36 219782738 219791916 - 220074488 220083712 - 1580863;1300326;6480464 10837493 22655043;11977179;11955620;19343046;18279659;17661442;17006453;16791740;15489334;14702039;12477932;9288777;9110174;8894702;8619474;20823549;20877624;21199866;22939629;18624398;21903422;21987572;20972266;21139048;21890473;21906983;22226084;21849266;22246506;23180570;22761424 10058 H7BXK9;H7C049;H7C1R6;H7C245;H7C3Z0;Q9NP58 AB039371;ABBA01023847;AC068946;AF070598;AF076775;AF308472;AF308473;AJ289233;AK026067;AK057026;AK172812;AK303230;AL560811;AMYH01011505;AW664349;BC000559;BC043423;CH471063;NG_032110;NM_005689;U66673 AAC28653;AAF75107;AAG33617;AAG33618;AAH00559;AAH43423;ABM82802;ABM85989;BAA96733;BAB71347;BAD18782;BAG64317;CAB95766;EAW70694;EAW70695;EAW70696;EAW70697;EAW70698;EAW70699;EAW70700;EAW70701;EAW70702;EAW70703;EAW70704;EAW70705;NP_005680;Q9NP58 Hs.107911 1651365;1674240;1699648;1712709;1850441;1856492;2123571;2154297 A002Q44;D2S2921;RH103428;RH121051;RH18248;RH68357;WI-19704;WI-20003 ABC;ABC14;EST45597;FLJ22414;LAN;MCOPCB7;MTABC3;PRP;umat ATP-binding cassette half-transporter;ATP-binding cassette sub-family B member 6, mitochondrial;OTTHUMP00000164171;OTTHUMP00000206108;P-glycoprotein-related protein;mitochondrial ABC transporter 3;mt-ABC transporter 3;ubiquitously-expressed mammalian ABC half transporter APPROVED protein-coding ENSG00000115657 47 09261 111600;605452;614497 REVIEWED 1351480 ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X q13.3 74189830 74292857 - 74273105 74376132 - 1298634;1598600;1580863;6480464;7240710 9143506;10196363 12480705;9621516;19343046;18398482;15772651;15489334;14702039;12477932;11843825;11050011;11042152;9883897;8894702;17006453;18029348;20301496;21832049;22939629;21380928;20186120;15146197;15342556;22398176;21139048;21726808;21987572;23070040 22 B4DGL8;E9PJR8;E9PNQ5;G3XAC4;O75027;Q7Z3K5 ABBA01059486;ABBA01059487;ABBA01059488;ABBA01059489;ABBA01059490;ABBA01059491;ABBA01059492;ABBA01059493;ABBA01059494;ABBA01059495;ABBA01059496;ABBA01059497;AF038950;AF078777;AF133659;AF241887;AK001418;AK294657;AK307414;AL359545;AL360179;AL590232;AMYH01022615;BC006323;BG722908;BP228998;BQ630948;BT009918;BX537833;CH471104;CN411218;NG_007980;NM_001271696;NM_001271697;NM_001271698;NM_001271699;NM_004299;U66679 AAC39865;AAD33045;AAD47141;AAH06323;AAK20173;AAP88920;ABM81618;ABW03277;BAG50910;BAG57829;CAD97847;EAW98632;EAW98633;EAW98634;EAW98635;EAW98636;EAW98637;NP_001258625;NP_001258626;NP_001258627;NP_001258628;NP_004290;O75027 Hs.370480 1698120;1702556;2171462;2216968 ABCB7_2717;RH102593;UniSTS:99415;WI-11286 ABC7;ASAT;Atm1p;EST140535 ABC transporter 7 protein;ATP-binding cassette 7;ATP-binding cassette sub-family B member 7, mitochondrial;ATP-binding cassette transporter 7;OTTHUMP00000023578;OTTHUMP00000023579;OTTHUMP00000235628;OTTHUMP00000235673 APPROVED protein-coding ENSG00000131269 48 02137 300135;301310 REVIEWED 1316973 ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. [provided by RefSeq, Jul 2008] 7 7 7 q36 145282807 145302178 + 150356443 150375802 + 150725510 150744869 + 1580863;6480464 9878413;19343046;19151771;19147539;16344560;14702039;12477932;11829140;8894702;8125298;16169070;20379614;20877624;19913121;20628086;22939629;18029348;21906983;21963094;23182705 11194 A5D8W3;C9JA03;C9JTY4;C9JYI3;E7ENE8;F2Z2Z1;F2Z3G8;F8WC43;G3XAP3;H7C5K9;Q9NUT2 AACC02000108;ABBA01035167;AC010973;AF047690;AF086382;AK002018;AK024401;AK094005;AK094636;AK126885;AK128129;AK222911;AK294344;AK310796;AK314721;AL117497;AMYH01018142;BC141814;BC141836;BC151235;CH471173;DA147595;DB540313;NM_007188 AAD15748;AAI41815;AAI41837;AAI43081;AAI46830;AAI51236;BAA92038;BAC04392;BAD96631;BAG37265;BAG51294;BAG52795;BAG57613;EAW54056;EAW54057;EAW54058;EAW54059;EAW54060;EAW54061;EAW54062;EAW54063;EAW54064;EAW54065;EAW54066;NP_009119;Q9NUT2 Hs.647118 1853377;2144630;2147356;2191161;5015619;5022578;5024039;5037552;5113208 D11S3114;D16S325;D1S1423;D7S1964;D8S2279;GDB:4585109;MARC_15633-15634:1017248647:1;RH92393;SHGC-34711 EST328128;M-ABC1;MABC1 ATP-binding cassette sub-family B member 8, mitochondrial;OTTHUMP00000213259;OTTHUMP00000213261;OTTHUMP00000213264;mitochondrial ABC protein;mitochondrial ATP-binding cassette 1 APPROVED protein-coding ENSG00000197150 49 10400 605464 REVIEWED 1350146 ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 16 16 q12.1 46758323 46826589 - 48200822 48269088 - 1580863;6480464 12764137;19383836;19336370;19240178;17095618;16444273;16359813;15537867;15331440;15277376;12477932;12133003;12076558;11803621;11802779;11688999;11591886;11483364;11435397;21165769;19557017;19625231;19644513;19650936;19710689;21182469;20718756;21187511;20937735;21423094;22256739;21782178;23288347;23350374 85320 F5H410;H3BRJ2;Q96J66 ABBA01000918;AC007600;AC096996;AF352582;AF367202;AF411579;AK301547;AL117406;AMYH01007646;AY040219;BC039085;CH471092;NG_011522;NM_032583;NM_033151;NM_145186 AAI52903;AAI57085;AAK19755;AAK58869;AAK76739;AAL99902;BAG63044;EAW82715;EAW82716;EAW82717;EAW82718;EAW82719;EAW82720;EAW82721;EAW82722;NP_115972;NP_149163;NP_660187;Q96J66 Hs.652267 1339376;1686995;2110237 ABCC11_2869;D16S3044;RH74962 EWWD;MRP8;WW ATP-binding cassette protein C11;ATP-binding cassette sub-family C member 11;ATP-binding cassette transporter MRP8;ATP-binding cassette transporter sub-family C member 11;OTTHUMP00000164191;OTTHUMP00000164192;multi-resistance protein 8;multidrug resistance-associated protein 8 APPROVED protein-coding ENSG00000121270 14639 06127 117800;607040 REVIEWED 1344624 ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012] 16 16 p13.1 15950935 16144432 + 16043434 16236931 + 1580863;631914;5128827;5128824;5128825;5128826;5128828;6480464;6484113 8662992;12930913;20487524;18931056;17072643;11238654 21793937;22188235;1360704;15999530;19349540;19343046;19291917;19285030;19235593;19214144;19214143;19165709;19129072;19107762;19067123;19065772;19063607;18924151;18851956;18838379;18799096;18775981;18713069;18702307;18690847;18680196;18621020;18439156;18400250;18381794;18336795;18316614;18280247;18256692;18204073;18200595;18056276;18038766;17980150;17925548;17890284;17875533;17852453;17710652;17606722;17596751;17494643;17445775;17350479;17336270;17295059;17264072;17215852;17203221;17050692;17033200;16960658;16946557;16914551;16883578;16821592;16784241;16697012;16621983;16565074;16551273;16547352;16481346;16464259;16410721;16330681;16293801;16278376;16230346;16156793;16041243;16041239;16014004;15856298;15810950;15628876;15623154;15472893;15355964;15269137;15260484;15252017;15245331;15208328;15161912;15155846;14984901;14737110;14722114;14580377;14578045;14561746;12960109;12954620;12954082;12925771;12897808;12890151;12882957;12856092;12783859;12653207;12646196;12628490;12576456;12486126;12458196;12388627;12388549;12235150;12186871;12163030;12146977;12135486;12119019;12084474;12042670;12034727;12018890;11996108;11995968;11986944;11937269;11925441;11820781;11809686;11783953;11771758;11755464;11721885;11689020;11600213;11561076;11557130;11469806;11465409;11439001;11278867;11278596;11266082;11139250;11114332;10950878;10835642;10811882;10493829;10064732;9485377;9441948;9344662;9334225;9295302;8831715;8649356;8098549;7916458;16395283;22182917;22293538;21177244;19622290;18711657;19019175;19393132;19438741;19513507;19552816;19636555;19672972;19687781;19723058;19851296;19883630;19885582;19897579;19924384;19940267;19948975;19956635;19969351;20004175;20093746;20198315;20200426;20233511;20234362;20453000;20520284;20532504;2753893;21090806;18029348;20922799;21143841;20109555;20388502;20604746;19875192;19913121;20530282;20628086;20689807;19969624;21317832;21182225;22511347;22695718;22939629;22664042;21315686;21609321;22899102;23178537;22086004;22787275;21435954;21799180;22232552;21520403;21903422;22037714;22084240;22272278;21139048;21890473;21906983;22143792;21956451;21987572;21736601;22353810;21701864;21929509;22117969;22798502;22026728;22445357;21963094;21988832;22871336;22982023;23580527;20051532;22053931 4363 I3L2H9;I3L4X2;Q9UQ99 AB209120;ABBA01048910;ABBA01048911;ABBA01048912;ABBA01048913;ABBA01048914;ABBA01048915;ABBA01048916;ABBA01048917;ABBA01048918;ABBA01048919;ABBA01048920;ABBA01048921;AC003026;AC025778;AC130651;AC136624;AF022853;AJ003198;AK311015;AMYH01007182;BC001636;BX648866;CH471226;CR749835;EF419769;HQ917064;HQ917065;HQ917066;HQ917067;L05628;NG_028268;NM_004996;U91318;X78338 AAB46616;AAB83979;AAB83980;AAB83981;AAB83982;AAB83983;AAC05808;AAC15784;AAH01636;AAI56354;AAI57106;ABN79590;AEK86268;AEK86269;AEK86270;AEK86271;BAD92357;CAH18691;EAW53936;EAW53937;EAW53938;EAW53939;EAW53940;EAW53941;EAW53942;EAW53943;EAW53944;EAW53945;EAW53946;EAW53947;EAW53948;EAW53949;NP_004987;P33527 Hs.391464 1680144;1684606;1728619;1763767;1769980;1795268;2126995;2128267;2141987;2144125 ABCC1_679;D16S2586E;G63601;RH64912;RH65306;RH79017;SHGC-12494;SHGC-147442;SHGC-5825;SHGC-60500 ABC29;ABCC;DKFZp686N04233;DKFZp781G125;GS-X;MRP;MRP1 ATP-binding cassette sub-family C member 1;ATP-binding cassette transporter variant ABCC1delta-ex13;ATP-binding cassette transporter variant ABCC1delta-ex13&14;ATP-binding cassette transporter variant ABCC1delta-ex25;ATP-binding cassette transporter variant ABCC1delta-ex25&26;LTC4 transporter;OTTHUMP00000045904;leukotriene C(4) transporter;multidrug resistance associated protein 1;multidrug resistance protein;multidrug resistance-associated protein 1;multiple drug resistance protein 1;multiple drug resistance-associated protein APPROVED protein-coding ENSG00000103222 51 01153 158343 REVIEWED 733003 ABCB9 ATP-binding cassette, sub-family B (MDR/TAP), member 9 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011] 12 12 q24 121979492 122025705 - 123405498 123451056 - 1580863;6480464 16344560;10748049;19343046;18952056;18434309;18175933;17977821;16554024;15863492;15491607;15489334;15302935;14702039;13679046;12477932;11829140;11011155;10819331;8894702;8889548;20377823;15577206;21507922;21212514;15518576;16525794;21194361;21906983;22641697;23382691 23457 F5GX63;F5GX86;F5GXZ5;F5GYI2;F5H0G0;F5H4Y2;F5H5F9;F5H5I5;F5H5Q0;F5H7U2;H7C478;Q6P2Q0;Q9NP78 AB040953;AB045381;AB112582;AB112583;AB177852;ABBA01060439;ABBA01060440;AC026362;AC027290;AF216494;AK027624;AK074738;AK294225;AK304295;AL833963;AMYH01004835;BC017348;BC064384;CA503047;CH471054;CS071961;CS071963;DA796102;NM_001243013;NM_001243014;NM_019624;NM_019625;NM_203444;U66676 AAF89993;AAH17348;AAH64384;BAA96044;BAA97989;BAC11171;BAC98409;BAC98410;BAD66830;BAG51360;BAG57529;BAG65152;CAD38811;CAI93387;CAI93388;EAW98353;EAW98354;EAW98355;EAW98356;EAW98357;EAW98358;EAW98359;EAW98360;EAW98361;EAW98362;EAW98363;NP_001229942;NP_001229943;NP_062570;NP_062571;NP_982269;Q9NP78 Hs.511951 1762317;1766435;1771921;1773958;1795264;2161609;2176072;5016478;5016675;5107535;5109281 A004P27;ABCB9_677;D1S1425;GDB:434012;HSC1CH052;RH78153;RH79740;SGC30324;SHGC-146164;SHGC-149768;STS-AA022496 EST122234;KIAA1520;TAPL;hABCB9 ABC transporter 9 protein;ATP-binding cassette sub-family B member 9;ATP-binding cassette transporter 9;OTTHUMP00000239382;OTTHUMP00000239383;OTTHUMP00000239384;OTTHUMP00000239385;TAP-like protein;tap-like abc transporter APPROVED protein-coding ENSG00000150967 50 09262 605453 REVIEWED 1315462 ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010] 6 6 p21.1 43507467 43526141 + 43395292 43418163 + 1358123;6480464 12433976 19343046;19082471;17203221;16034073;15256465;14702039;14574404;12566991;12527806;12477932;11146224;8894702;18974132;19118001;19150344;19720054;19841739;21628669;21890473;21906983;22082652 89845 D6R9B3;H0Y904;Q5T3U5 ABBA01050683;AK000002;AK024446;AL122095;AL133613;AL359813;AMYH01016313;AY032599;BC024103;CH471081;NM_001198934;NM_033450 AAH24103;AAI66699;AAK39642;BAA92227;BAB15736;CAB59263;CAB63742;EAX04180;EAX04181;EAX04182;EAX04183;EAX04184;EAX04185;NP_001185863;NP_258261;Q5T3U5 Hs.55879 1797244;2190963 ABCC10_2608;MARC_12101-12102:1004643664:1 EST182763;MRP7;SIMRP7 ATP-binding cassette sub-family C member 10;OTTHUMP00000016438;OTTHUMP00000016441;multidrug resistance-associated protein 7 APPROVED protein-coding ENSG00000124574 52 07623 612509 REVIEWED 1342698 ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 32624011 32687808 - 46674385 46738182 - 48116884 48180681 - 1580863;6480464 16344560;15489334;14965249;12477932;12011458;11688999;11483364;11435397;20877624;19615732;20379614 94160 B4DYN2;E9PHY2;Q96J65 ABBA01000918;AC096996;AF395908;AF395909;AF411577;AF411578;AK122635;AK127951;AK302520;AK307109;AK308599;AMYH01007646;AY040220;AY196326;BC036378;CH471092;DA096073;NM_033226 AAI46311;AAI48750;AAK76740;AAL79528;AAL79529;AAL99900;AAL99901;AAO40749;BAG53632;BAG63794;EAW82705;EAW82706;EAW82707;EAW82708;EAW82709;EAW82710;EAW82711;EAW82712;EAW82713;EAW82714;NP_150229;Q96J65 Hs.410111 1738843;1795266 ABCC12_1424;D16S2894 MGC27071;MRP9 ATP-binding cassette sub-family C member 12;ATP-binding cassette transporter sub-family C member 12;OTTHUMP00000164186;OTTHUMP00000236234;OTTHUMP00000236236;OTTHUMP00000236237;OTTHUMP00000236238;multidrug resistance-associated protein 9 APPROVED protein-coding ENSG00000140798 14640 06128 607041 REVIEWED 6481332 ABCC5-AS1 ABCC5 antisense RNA 1 3 183724126 183729207 + 100873982 ABBA01058465;ABBA01058466;AC068644;AMYH01013709;BE549568;NR_046570 Hs.570696 APPROVED miscrna ENSG00000223882 40055 VALIDATED 1352103 ABCC13 ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 21 21 21 q11.2 803367 830950 + 14567991 14595578 + 15646120 15673707 + 1580863;6480464 16124856;15203202;14759258;12909339;12445816;12036298;10830953;8894702;18668432;10049586;12477932 150000 Q9NSE7 ABBA01057083;AF130358;AF418600;AF518320;AF518321;AMYH01012140;AP001660;AY063514;AY063515;AY344117;AY344118;BC144077;CH471079;CS300709;DR004370;NR_003087;NR_003088 AAL47201;AAL47202;AAL99903;AAM70494;AAM70495;AAQ22368;AAQ65077;BAA95546;CAK32373;EAX10058;EAX10059;Q9NSE7 Hs.366575 1688791;1740643;1797246;2120340;2147107;5015619 ABCC13_1906;D11S3114;D21S1839;D21S1951;RH99103;SHGC-52079 C21orf73;PRED6 ATP-binding cassette protein C13 APPROVED pseudo ENSG00000243064 16022 10586 608835 REVIEWED 619569 ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] 10 10 q24 101532493 101601571 + 101542463 101611662 + 631914;1598602;1598611;1598613;1598614;1598616;1598571;1598605;69812;1580863;704399;1358123;2312726;2312728;2312730;2312736;2312809;2317509;2316977;2317508;6480464;6907045;7240710;2301067 8662992;16139386;16572733;16504477;16037978;10053008;12702498;16899240;8599091;12663688;12433976;18189363;19356064;17664251;15319330;1632778;19020751;17353665;19451719;17135344 21160029;17485564;12395335;22256867;19010343;18981587;18974617;18946804;18926681;18838068;18799096;18697280;18695635;18690847;18676680;18597651;18518855;18509327;18498916;18445995;18439156;18416940;18381794;18381564;18334920;18294295;18221820;18192894;18180270;18176959;18038766;17997497;17925548;17924828;17906856;17890284;17825285;17725603;17622941;17606722;17578901;17534875;17502832;17494643;7559771;19541926;19513507;19494809;19415824;19400747;19349540;19343046;19214140;19167193;19098406;19074644;19038257;19017997;22744337;17478601;17403188;17287630;17241877;17185998;17156953;17145840;17112803;17083032;17060857;17047488;16946557;16821592;16791115;16788565;16771603;16672223;16628674;16542205;16505951;16426233;16341674;16330681;16041239;15922475;15870973;15848949;15801936;15519273;15226675;15211708;15057744;14568249;12960109;12942343;12890151;12704183;12702717;12628490;12615054;12576456;12388192;12222674;12130697;12068294;11952788;11937269;11745434;11677213;11500505;11477083;11266082;11093739;11076395;11004020;10573531;10496535;10464142;10361853;9878557;9525973;9425227;9284939;9185779;8894702;8797578;20738239;21206495;20530282;20565459;20679960;20720558;20439344;20702406;20658178;12477932;16385451;19170196;19421150;19442037;19480556;19568750;19625176;19636001;19692168;19696793;19730281;19771428;19776292;19842932;19857663;19865079;19885582;19885591;19890061;19937833;19944137;19956635;19956884;20061166;20124171;20147615;20173083;20200426;20204280;20216337;20368715;20453000;16712791;20404332;20102361;20839930;20922799;20943283;20973683;21072184;20082599;22454528;21044052;21134393;21170509;20351751;22676135;21451505;22630058;22201120;22939629;23506516;23700788;21059598;21449672;21541183;22112610;23135210;23052037;21039333;21799461;21945491;21691255;22473764;22027652;21864659;21986666;22407408;22428913;21963094;21988832;22695893;23188068;21899702;21906983;22275271;21918980;22307138;22318656;22469515;22534871;20193114;22062654;22178260;22673116;23131697;23190519;23222202;22899102;22955427;23237922;23562342;23697249;22922069 1244 Q5TCZ5;Q92887 ABBA01063241;ABBA01063242;ABBA01063243;AF144630;AJ132244;AL133353;AL392107;AMYH01002992;AMYH01002993;AMYH01002994;AMYH01002995;BC136419;BM765259;CB120555;CH471066;CS172499;GM000488;NG_011798;NM_000392;U49248;U63970;U66683;X96395 AAB09422;AAB39892;AAD47599;AAI36420;CAA65259;CAB45309;CAJ33679;CAS97349;EAW49852;EAW49853;NP_000383;Q92887 Hs.368243 1711908;1713433;1779986;2113948;2122400;2144365 ABCC2;D10S2172;D10S2421;G49565;RH119574;SHGC-154232 ABC30;CMOAT;DJS;KIAA1010;MRP2;cMRP ATP-binding cassette sub-family C member 2;OTTHUMP00000020267;canalicular multidrug resistance protein;canalicular multispecific organic anion transporter 1;multidrug resistance-associated protein 2 APPROVED protein-coding ENSG00000023839 53 03065 237500;601107 REVIEWED 733938 ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008] 11 11 p15.1 17371008 17455025 - 17414432 17498449 - 704365;737749;1580863;1598639;1598640;737750;704366;1598635;1625279;1598645;2301903;2301896;2301904;2301898;2301913;2311063;2301911;2313628;2301901;2301906;2301914;2301897;2325205;6480464;6484113;6907045;7240710 7716548;11030411;12199344;15579791;12524541;12496311;16550187;16416420;15857625;18316485;18776135;18025464;18599530;17657312;18940941;18021373;17259403;18346985;17673715;17285300;18664331;9769320 21671119;7502040;19498446;19475716;19343046;19139106;19056482;19021632;18996102;18988933;18828733;18796522;18767144;18758683;18679166;18596924;18497752;18392808;18390792;18339976;18290324;18281290;18162506;18025408;17942822;17942821;17919176;17823772;17668386;17636114;17597441;17593344;17575084;17535866;17516295;17446535;17389331;17378627;17317760;17213273;17207885;17118480;16897043;16885549;16873704;16613899;16429405;16373383;16357843;15842514;15840308;15807877;15613469;15579781;15562009;15356046;15111507;14728986;12941953;12941782;12879777;12540637;12364426;12356945;12213829;12149601;12118200;11938023;11867634;11825905;11692183;11536079;11318841;11226335;11160857;11018078;10639163;10615958;10506587;21422196;10506167;10447255;10338089;10334322;10204114;10202168;9653196;9648840;9618169;9568693;9519757;9135131;9041101;8923011;8751851;8650576;8635661;8630239;7920639;7847376;7716547;12937135;14660679;22562119;19913121;20602615;20628086;20682687;12475776;19254908;19342262;19578796;19587354;19766903;20079163;20164212;20215776;20384434;20453000;20410530;22927833;20734064;20863361;20301620;20810569;20922570;21173146;21199866;20685672;20042013;21378087;21536946;21617188;20573158;22533711;22972803;21674179;22086197;21214702;21544516;21923736;22020219;22187380;22308858;21978130;22466262;21716120;21992908;21981029;21989597;21540348;22106158;20301549;22326206;22451668;23266803;23345197;22815030;22704848;23273570;22802590 6833 E9PK50;H0YDH8;H0YE33;H0YEA9;H0YF51;Q09428 AB209084;ABBA01061064;ABBA01061065;AC124798;AF087138;AK297560;AMYH01003415;AW444836;CH471064;DB636549;HM635782;L40625;L78207;L78243;NG_008867;NM_000352;R84665;U63421;U63455 AAA99227;AAB02278;AAB02417;AAB02418;AAB36699;AAB36700;AAC36724;AAI67829;ADM67556;BAD92321;BAH12616;EAW68436;EAW68437;NP_000343;Q09428 Hs.54470 1336607;1659797;1757091;1773345;1848352;2184721;5491349;7186379 Abcc8;D11S2032;D11S2282E;D11S4388;D11S902;RH36002;SHGC-144482 ABC36;HHF1;HI;HRINS;MRP8;PHHI;SUR;SUR1;SUR1delta2;TNDM2 ATP-binding cassette sub-family C member 8;ATP-binding cassette transporter sub-family C member 8;OTTHUMP00000232577;atp-binding cassette, subfamily c (cftr/mrp), member 8;sulfonylurea receptor (hyperinsulinemia);sulfonylurea receptor 1 APPROVED protein-coding ENSG00000006071 59 02741 125853;240800;256450;600509;606176;610374 REVIEWED 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 16 16 16 p12.3 17778272 17779791 - 18490071 18517112 + 18582570 18609611 + 18405356;12477932;22873774 653190 ABBA01000781;ABBA01001980;ABBA01001981;ABBA01216899;AC136618;AK298443;AMYH01007263;AMYH01007264;BC075833;NR_003569 BAH12790 Hs.13188 1683481;1694756;1714015 G43581;RH119438;RH74970 pseudo ENSG00000256340 33352 PROVISIONAL 2293908 ABCC6P2 ATP-binding cassette, sub-family C, member 6 pseudogene 2 16 16 p13.11 14822190 14826081 - 14916289 14918559 - 18405356;15760889;12477932;22873774 730013 AC136443;AMYH01007182;BC015978;NR_023387 Hs.460057 5114788 A007L01 pseudo ENSG00000255277 33353 PROVISIONAL 734433 ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008] 16 16 p13.1 16150923 16224838 - 16243422 16317328 - 1580863;1331525;737772;1549868;1358123;6480464;7240710 15118671;10835643;11493310;12433976 8912525;10835642;19343046;19341707;19339160;19298904;19284998;19240061;19133228;19056482;18850323;18800149;18791038;18439156;18347285;18305351;18253096;18191640;18029147;18024896;17880583;17823974;17724214;17617515;17309461;17045963;16835894;16543900;16392638;16374464;16127278;16086317;15996518;15894595;15889270;15760889;15727254;15723264;15645653;15459974;14631379;12901863;12850230;12714611;12673275;12477932;12384774;12176944;11880368;11776382;11702217;11536079;11439001;11431746;11427982;11179012;11058917;10954200;10913334;10811882;10585762;10493829;10424734;9892204;9721217;9267806;8894702;4841083;3359381;19904211;19929409;20032990;20075945;20541540;20463007;20801516;20855565;20301292;21179111;22763786;22873774;21748403;22209248;22056557;21813308;21988832;21831958;23382691;23625951;23122642 368 A2RRN8;E7ESW8;I3L1Z6;O95255 ABBA01048921;ABBA01048922;ABBA01048923;AC136624;AF076622;AF168791;AI074459;AK298295;AM711638;AM774324;AMYH01007182;AY078405;BC050733;BC131732;CH471226;DC361874;NG_007558;NM_001079528;NM_001171;U91318 AAC15785;AAC79696;AAD51293;AAH50733;AAI31733;AAL83711;BAG60553;CAN84639;CAO81806;EAW53950;EAW53951;EAW53952;NP_001072996;NP_001162;O95255 Hs.442182 1648547;1699632;1789292;2118931;2190093;5037552;5114788 99-4448;A007L01;D8S2279;G67881;RH103419;RH70947;STS-X95715 ABC34;ARA;EST349056;GACI2;MLP1;MOAT-E;MOATE;MRP6;PXE;PXE1;URG7 ATP-binding cassette sub-family C member 6;MOAT-E;OTTHUMP00000160427;URG7 protein;URG7 protein; multidrug resistance-associated protein 6;anthracycline resistance-associated protein;liver multidrug resistance-associated protein 6;multi-specific organic anion transporter E;multidrug resistance-associated protein 6 APPROVED protein-coding ENSG00000091262 57 04453 177850;264800;603234;614473 REVIEWED 734363 ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq, Jul 2008] 3 3 q27 185120416 185218421 - 183637722 183735727 - 1580863;1358123;2301088;2325200;6480464 12433976;16997484;15688370 9325169;9827529;15297306;19343046;19077464;18690847;17803828;17540771;17521428;16156793;15861033;15631998;15146197;14507663;12695538;12646196;12637526;12477932;12388627;10893247;10840050;10737800;10728601;10721709;10438534;10340910;9270026;8894702;22843873;19913121;20628086;19898482;19903828;19940267;19956884;20922799;20597995;21449672;21890473;21906983;22272278;22278731;21963094;21988832;23000965;23271324 10057 A5PKY6;C9JZL5;E9PET4;F8WCY8;F8WDH3;H7C271;Q86UX3;Q9UQC3 AB005659;AB019002;AB209103;AB209454;ABBA01058465;ABBA01058466;ABBA01058467;ABBA01058468;AC068644;AF104942;AF146074;AL524917;AMYH01013709;AW207515;AY196484;AY754874;AY754875;AY754876;BC050744;BC051358;BC140771;BC142670;BC142719;BC144495;BE085682;BX647245;CH471052;CN410200;CN429416;NM_001023587;NM_005688;U66687;U83661 AAB71758;AAD04169;AAD37716;AAH50744;AAI40772;AAI42671;AAI42720;AAO49801;AAW82948;AAW82949;AAW82950;BAA22887;BAA76608;BAD92340;BAD92691;EAW78306;EAW78307;EAW78308;EAW78309;EAW78310;NP_001018881;NP_005679;O15440 Hs.368563;Hs.743953 1648419;1655612;1688446;1725617;1730273;1777292;2112566;2112574;2112608;2114832;2117880;2154204;2166795;2177294;2179963;2181761;2216970;5017244;5095006;5491840;7184709 ABCC5;ABCC5_681;CH241-100C11_T7;D3S1324E;D3S4256;D3S4341;D3S4345;D3S4424;G62024;RH46232;RH47340;RH70792;RH71180;RH80629;SGC33898;SHGC-34525;SHGC-64857;SHGC-77595;STS-N68159;STS-T83859 ABC33;DKFZp686C1782;EST277145;MOAT-C;MOATC;MRP5;SMRP;pABC11 ATP-binding cassette sub-family C member 5;OTTHUMP00000210859;OTTHUMP00000210861;OTTHUMP00000210862;OTTHUMP00000210863;OTTHUMP00000210864;atp-binding cassette, sub-family c (cftr/mrp), member 5a;canalicular multispecific organic anion transporter C;multi-specific organic anion transporter C;multidrug resistance-associated protein 5 APPROVED protein-coding ENSG00000114770 56 06898 605251 REVIEWED 736866 ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 17 17 q22 46067227 46124062 + 48712218 48769063 + 1300327;1598620;1580863;1358123;2301069;2301064;2301062;2301060;2301067;2325200;6480464;6907045 10094960;14731123;12433976;16543292;17640958;17855625;18096675;17135344;15688370 9813153;9738950;19343046;19334674;19114588;19107936;19077464;18799096;18698235;18604784;18593940;18313914;18207572;18038766;17495421;17494643;17485564;17300812;17272513;16946557;16460798;16424827;16278398;15824121;15167703;14759258;12704183;12628490;12477932;12220224;11850532;11820781;11745434;10772892;10362653;10340910;9889399;9827529;9270026;8894702;10359813;22699933;19345732;19480556;19956884;20200426;20379614;20453000;20563633;19937796;19913121;20628086;20922799;22089114;21799180;21512263;21780830;21987572;22016816;23069916;22272278;20706999;21606946;21963094;23000965;21139048;21906983;22105759;22767273;23176825;22585709 8714 D6RAB7;D6RJE5;H0Y8Q6;H0Y8T5;H0Y9T4;O95290;Q86VN9 AB010887;AB208954;ABBA01041243;ABBA01041244;AC004590;AC005921;AF009670;AF083552;AF085690;AF085691;AF085692;AF104943;AF154001;AJ294545;AMYH01008475;BC034683;BC046126;BC050370;BC058907;BC104952;BC127655;BC131755;BC137347;BC137348;BX649137;CH471109;NM_001144070;NM_003786;U83659;Y17151 AAB71756;AAC34668;AAD01430;AAD02845;AAD02846;AAD02847;AAD04170;AAD38185;AAH46126;AAH50370;AAI04953;AAI37348;AAI37349;BAA28146;BAD92191;CAA76658;CAC69553;EAW94590;EAW94591;EAW94592;EAW94593;EAW94594;NP_001137542;NP_003777;O15438 Hs.463421 1660231;1670209;1743393;1761015;1783626;1789360;1795270;1797248;5037552;5109281;7186728 ABCC3_1044;ABCC3_2390;D1S1425;D8S2279;G67864;GDB:315953;RH45401;SHGC-144981;SHGC-172087;STS-W86661 ABC31;DKFZp686E22157;EST90757;MLP2;MOAT-D;MRP3;cMOAT2 ATP-binding cassette sub-family C member 3;OTTHUMP00000221667;OTTHUMP00000221668;OTTHUMP00000221669;OTTHUMP00000221670;canalicular multispecific organic anion transporter 2;canicular multispecific organic anion transporter;multi-specific organic anion transporter D;multidrug resistance associated protein;multidrug resistance-associated protein 3 APPROVED protein-coding ENSG00000108846 54 06826 604323 REVIEWED 1352399 ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in cellular detoxification as a pump for its substrate, organic anions. Alternative splicing results in multiple splice variants encoding different isoforms. [provided by RefSeq, Jul 2008] 13 13 q32 94470084 94751688 - 95672083 95953687 - 1580863;2301085;6480464;6907045 15030973 22411990;7557451;15297306;19515727;19400747;19343046;19138942;19082692;19077464;19073137;18690847;18676680;18662272;18636120;18625884;18615486;18612080;18364470;18045536;17959747;17939016;17903305;17878487;17696930;17682070;17578901;17404579;17229149;17083032;17081983;17003774;16791115;16282361;16156793;15827327;15364914;14643890;12883481;12835412;12792791;12695538;12637526;12523936;12499391;12477932;12133003;12105214;11991713;11856762;10470083;9661885;9270026;8894702;2806887;19913121;20628086;20834067;19170196;19399588;19480556;19625176;19692168;19696793;19735648;19903828;19940267;19956635;20018925;20032540;20133816;20200426;20379614;20393862;20547088;21205825;21296199;15123239;23503867;20727860;20804728;20922799;20395535;20530583;21359593;23126166;21571869;20171186;21799180;21156465;21741706;21987572;22272278;23472950;21139048;21890473;21906983;21897051;21922333;22542979;23478653;21963094;23575399;23222202;23087145;22139419;21866459 10257 B7Z3Q7;O15439;Q8IUA3 AB208973;ABBA01027193;ABBA01027194;ABBA01027195;ABBA01027196;ABBA01027197;ABBA01027198;ABBA01027199;ABBA01027200;ABBA01027201;ABBA01027202;AF071202;AF071203;AF339763;AF541977;AK290317;AK296247;AK298953;AK309460;AL139381;AL157818;AL356257;AL359750;AMYH01005302;AMYH01005303;AMYH01005304;AY081219;AY133678;AY133679;AY133680;AY207008;BC041560;BX113883;BX647118;CH471085;CS223373;NM_001105515;NM_005845;U83660 AAB71757;AAC27076;AAC27077;AAH41560;AAL88745;AAN08628;AAN08629;AAN08630;AAN17334;AAO37649;BAD92210;BAF83006;BAH12293;BAH12910;CAJ46926;EAX08949;EAX08950;EAX08951;EAX08952;NP_001098985;NP_005836;O15439 Hs.508423 1340287;1694824;1697592;1726305;1737441;1737505;1851737;2110239;2111656;2111658 ABCC4_2463;D13S1004;D13S1041;D13S1581;D13S1582;D13S631;G43645;G62453;RH102306;STS-N34031 EST170205;MOAT-B;MOATB;MRP4 ATP-binding cassette sub-family C member 4;MRP/cMOAT-related ABC transporter;OTTHUMP00000018560;bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4);canalicular multispecific organic anion transporter (ABC superfamily);multi-specific organic anion transporter B;multidrug resistance-associated protein 4;multispecific organic anion transporter B APPROVED protein-coding ENSG00000125257 55 05583 605250 REVIEWED 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 10 10 p11 38936991 38937780 + 38894541 38898740 + 9215666 26983 ABBA01003913;AL133173;NG_001270;U90288 bA453N3.6 pseudo 63 VALIDATED 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 p11 9215666;8829626 23785 ABBA01126667;NG_001246;U90290;X82264 pseudo 62 INFERRED 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 16 16 16 p11 30805852 30806644 - 32393845 32394637 - 32486344 32487136 - 9215666 26982 ABBA01001314;AC138915;AMYH01007527;NG_001269;U90289 pseudo 64 INFERRED 5487936 ABCD1P5 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2 2 p11.1 91391799 91395566 + 92028072 92031839 + 11181995 642762 ABBA01048752;AC127391;AMYH01010665;CH471366;NG_006974 EAW50840 1794258 PMC310890P10 pseudo 42662 INFERRED 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 22 22 22 q11 548659 549448 + 15250852 15251641 + 16868415 16872610 + 10591208;9215666 26957 ABBA01001472;AMYH01012414;AP000543;NG_001265;U90291 ALD22Q11 pseudo 65 VALIDATED 730967 ABCD2 ATP-binding cassette, sub-family D (ALD), member 2 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008] 12 12 q12 38232813 38300237 - 39945022 40013843 - 1300329;1580863;6480464 8577752 10329405;10704444;11883941;10196381;19343046;18834860;18660489;17602313;16344560;16249184;15489334;12477932;10777694;10551832;9345306;9195160;20661612;20877624;21145416;18029348 225 Q9UBJ2 ABBA01049534;AC121334;AC125491;AF119822;AF119823;AF119824;AF119825;AF119826;AF119827;AF119828;AF119829;AF119830;AF119831;AJ000327;AK314254;AMYH01004389;AMYH01004390;BC104901;BC104903;CH471111;DB259336;NM_005164;U28150 AAB00541;AAD30439;AAI04902;AAI04904;BAG36920;CAA03994;EAW57807;NP_005155;Q9UBJ2 Hs.117852 1704410;1795272 ABCD2_195;SHGC-82897 ABC39;ALDL1;ALDR;ALDRP;hALDR ATP-binding cassette sub-family D member 2;OTTHUMP00000240848;adrenoleukodystrophy-like 1;adrenoleukodystrophy-related protein APPROVED protein-coding 66 03051 601081 REVIEWED 735726 ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] 12 12 p12.1 21841590 21980895 - 21950323 22089628 - 1580863;1598644;1598645;1598647;1300328;2301909;6480464;7240710 15964031;15857625;15115899;15034580;18471810 8826984;18026101;19481058;19343046;18996111;18663158;18239147;16820413;16672225;16563363;16267564;16189514;15339904;14702039;12934053;12738227;12477932;12356945;12189208;12145195;12107410;11825905;11136227;11054556;11007308;10625598;10498831;10497157;10093054;9755153;9714850;9692785;9457174;8630239;19913121;20628086;19952277;19962959;20474083;20847183;18936737;19607836;19729596;20033705;20600101;20664073;22610116;20301486;22608503;22105623;23251661 10060 G3V1N6;H0YFV4;K4DI86;O60706;Q8N4N7 ABBA01067973;ABBA01067974;ABBA01067975;AC008250;AC084806;AF061323;AF061324;AK056519;AK092535;AK094171;AMYH01004320;AMYH01004321;BC033804;BX537513;BX640893;CA389699;CH471094;NG_012819;NM_005691;NM_020297 AAC16057;AAC16058;AAH33804;BAC04300;EAW96452;EAW96453;EAW96454;EAW96455;EAW96456;EAW96457;EAW96458;EAW96459;EAW96460;NP_005682;NP_064693;O60706 Hs.732701 1716419;1743003;2146578;5015607;5015609;5018983;5022637;5118147 AL033784;D11S2766;D11S3014;D11S3017;D11S3026;GDB:229337;RH121390;SHGC-18112 ABC37;ATFB12;CANTU;CMD1O;FLJ36852;SUR2 ATP-binding cassette sub-family C member 9;ATP-binding cassette transporter sub-family C member 9;OTTHUMP00000240076;OTTHUMP00000240077;OTTHUMP00000240078;sulfonylurea receptor 2;sulfonylurea receptor 2A APPROVED protein-coding ENSG00000069431 60 03258 239850;601439;608569;614050 REVIEWED 1352747 ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] X X q28 152643530 152663375 + 152990323 153010216 + 1580863;1598655;6480464;7240710 8048932 16331554;8040304;7668254;8441467;10551832;19343046;19204726;18973459;18481121;18306728;17828604;17761426;17662307;17542813;17504626;17285533;16087056;16018167;15781447;15772651;15772093;15643618;15489334;15001567;14767898;14556192;12624723;12579499;12530690;12509471;12477932;12210797;12175782;11992258;11883941;11810273;11798073;11748843;11438993;11248239;10980539;10777694;10737980;10704444;10480364;10369742;10190819;9702690;9215666;9195223;8651290;8566952;8535452;8520725;8507690;8004093;8002973;7959759;7904210;7849723;7825602;7811247;7717396;7581394;6795626;6524872;1746561;20889312;16756494;18757502;19406751;19787628;20042197;20659892;20376793;21145416;20661612;20301491;21273699;20811636;22939629;21700483;21890473;21987572;10640429;16781659;17609205;22280810;9425230;21889498;21966424;23300730;21963094;21988832;23123468;14533738 215 A6NEP8;H0Y7L9;P33897 ABBA01045361;ABBA01045362;ABBA01045363;ABBA01045364;AMYH01023300;AY421736;AY421737;AY421738;BC015541;BC025358;CH471172;DQ305405;NG_009022;NM_000033;U52111;Z21876;Z31348 AAH15541;AAH25358;AAR07956;AAR07957;AAR07958;ABC41634;ABM81926;ABM85103;CAA79922;CAA83230;EAW72817;NP_000024;P33897 Hs.159546 1702226;1743943;1744517;1744549;1744551;1748043;1787982;1787984;5117360;5117362;5117364;5117366;5117368;5117508;5120852;5120854 G65802;G67205;G67214;GDB:376627;GDB:376680;GDB:376683;GDB:511618;GDB:523970;GDB:524010;GDB:524013;GDB:524016;GDB:524019;GDB:524020;GDB:524023;GDB:572900;UniSTS:99200 ABC42;ALD;ALDP;AMN ATP-binding cassette sub-family D member 1;OTTHUMP00000025960;adrenoleukodystrophy protein APPROVED protein-coding ENSG00000101986 61 02300 300100;300371 REVIEWED 7246989 ABCF2P2 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 2 100422059 AACC02000048;ABBA01064008;AC004845;AMYH01017528;CH236952;NG_026596 pseudo 48842 INFERRED 7246954 ABCF2P1 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 1 344653 ABBA01004635;AC126475;AMYH01013327;NG_022253 pseudo 48841 INFERRED 736620 ABCD3 ATP-binding cassette, sub-family D (ALD), member 3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 p21.3 94656599 94756672 + 94883933 94984219 + 1580863;1300330;1598658;6480464;7240710 7528830;1301993 9521874;10704444;11883941;19343046;18660489;17602313;16710414;16344115;12477932;12176987;11453642;11248239;10777694;10551832;10447258;9199576;9126326;8726233;8453064;8449508;1536884;1301179;17353931;9765053;21145461;19913121;20628086;20661612;20562859;18029348;20877624;20007743;14702039;19615732;20379614;9922452;22990118;22939629;17609205;9425230;21139048;21890473;21906983;21987572;22190034;22505724;14709540 5825 E7EUE1;F5GYC1;P28288 ABBA01045508;ABBA01045509;AC093117;AC118469;AK126440;AK296791;AK302714;AK308159;AL138758;AMYH01000807;AMYH01000808;BC009712;BC068509;BT006644;BX648715;CH471097;DC317792;M81182;NG_008865;NM_001122674;NM_002858;X58528;X83467 AAA60128;AAH09712;AAH68509;AAP35290;BAG59369;BAG63934;CAA41416;CAA58470;EAW73046;EAW73047;EAW73048;EAW73049;EAW73050;NP_001116146;NP_002849;P28288 Hs.700576 1644239;1722447;1742403;1795274;1850817;2154093;2176066 1400;ABCD3_1048;D1S3571;G29187;G60300;GDB:196676;SHGC-75171 ABC43;PMP70;PXMP1;ZWS2 70 kDa peroxisomal membrane protein;ATP-binding cassette sub-family D member 3;OTTHUMP00000012428;OTTHUMP00000012429;Peroxisomal membrane protein-1 (70kD);dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1));peroxisomal membrane protein 1 (70kD, Zellweger syndrome) APPROVED protein-coding ENSG00000117528 67 01368 170995 REVIEWED 1316370 ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. [provided by RefSeq, Jul 2008] 14 14 q24.3 73821733 73839512 - 74751980 74769767 - 1580863;6480464 9266848;18029348;19343046;16344560;15909363;15800013;12477932;12111378;9599016;9521874;9302272;8889548;16169070;20661612;22922874;21514256;14533738;21139048;21906983 5826 E9PI46;E9PPB6;F8W7M4;G3V3W1;G3V4U7;H0YCY9;H0YJ78;H0YJ82;H0YJL8;H0YJX8;O14678 ABBA01030724;AC005519;AF009746;AK291332;AK297934;AK308382;AMYH01005852;BC012815;BF062605;BI916327;BM667379;BQ893869;BT007412;BX247984;BX248053;CH471061;CQ798278;CR457104;DA713794;DA799558;DC332064;NG_032875;NM_005050;NR_003256;Y14318;Y14322;Y14323 AAB83967;AAH12815;AAP36080;ABM83773;ABM87093;BAF84021;BAH12692;CAA74699;CAD62318;CAD62355;CAG26855;CAG33385;EAW81165;EAW81166;EAW81167;EAW81168;EAW81169;EAW81170;EAW81171;EAW81172;NP_005041;O14678 Hs.94395 1646403;1679567;1773059;1773061;1774557;2133215;2155046;2163686;5095094 A006I12;A008S38;ABCD4;G20837;G38080;HSC13B122;RH44881;RH70410;RH91782 ABC41;EST352188;MAHCJ;P70R;P79R;PMP69;PXMP1L 69 kDa peroxisomal ABC-transporter;ATP-binding cassette sub-family D member 4;OTTHUMP00000195523;PMP70-related protein;PXMP1-L;peroxisomal membrane protein 1-like;peroxisomal membrane protein 69 APPROVED protein-coding ENSG00000119688 68 04446 603214;614857 REVIEWED 734018 ABCF1 ATP-binding cassette, sub-family F (GCN20), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008] 6 6 p21.33 30647149 30667288 + 30539170 30559309 + 1580863;6480464 9790762;19343046;17894550;17456004;17119950;17081983;16964243;15489334;15345747;15302935;14574404;12477932;10931828;10581359;22586326;21145461;16169070;19570978;19851445;19912639;21048031;22863883;21832049;21252943;21907836;17370265;21139048;21890473;21906983;21900946;23263557;23182705;22174317;22952844;19738201;19805454;22678362;23000965;23455922 23 F5GYK6;H0YGW7;Q2L6I2;Q5STZ7;Q5STZ8;Q8NE71 AB023052;AB088096;AB103602;AB202093;AB209564;ABBA01038049;ABBA01038050;AC006138;AF027302;AK298061;AK307551;AL662800;AL662825;AL832430;AMYH01016205;BA000025;BC016772;BC034488;BC112923;BI547952;BM556481;BU620927;BX000357;BX119957;BX248518;BX927220;CH471081;CR388372;CR753328;CR759778;CR847863;NM_001025091;NM_001090 AAC70891;AAH16772;AAH34488;AAI12924;ABM82181;ABM85743;BAB63325;BAC54928;BAD92801;BAE78612;BAF31263;BAG60354;CAH10648;EAX03300;EAX03301;EAX03302;NP_001020262;NP_001081;Q8NE71 Hs.655285 1725631;1795276;2181544;2218716;5022578;5024039;5037552 ABCF1_1054;ABCF1_2136;D16S325;D1S1423;D6S2266;D8S2279;G62097 ABC27;ABC50 ATP-binding cassette 50 (TNF-alpha stimulated);ATP-binding cassette sub-family F member 1;OTTHUMP00000029110;OTTHUMP00000029111;OTTHUMP00000238584;TNF-alpha-stimulated ABC protein;TNFalpha-inducible ATP-binding protein APPROVED protein-coding ENSG00000204574 70 09139 603429 REVIEWED 1313249 ABCE1 ATP-binding cassette, sub-family E (OABP), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q31 146238606 146270126 + 146019156 146050676 + 6480464 20372810;21145461;7539425;11585831;19343046;18189233;18006034;16344560;15809757;15489334;15107989;14747530;12600646;12578357;12477932;11780123;9877446;9847332;9660177;8838820;8641422;16275648;19615732;19657357;20122402;22863883;23008114;21448132;16196087;22586326;21139048;21890473;21906983;21987572;22267055;17233757;22851315;17222823;19020832;21543480;22004035;22053931;22505724 6059 D6R9I9;D6RGF4;H0Y990;P61221 AB062293;ABBA01070024;AC096757;AK315198;AMYH01014592;BC016283;BC016988;BT009779;CH471056;DA218189;DQ148409;L24115;NM_001040876;NM_002940;X74987;X76388 AAH16283;AAH16988;AAP88781;AAZ38723;BAB93476;CAA52920;CAA53972;EAX05049;NP_001035809;NP_002931;P61221 Hs.12013 1744285;2187327;5014051;5019198;5022578;5123639 D1S1423;D8S2278;GDB:451571;RH104489;RH70908;SHGC-50255 ABC38;OABP;RLI;RNASEL1;RNASELI;RNS4I 2'-5'-oligoadenylate-binding protein;ATP-binding cassette sub-family E member 1;OTTHUMP00000220305;OTTHUMP00000220421;RNase L inhibitor;huHP68;ribonuclease 4 inhibitor;ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor APPROVED protein-coding ENSG00000164163 69 03132 601213 REVIEWED 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515;11178751 64007 AF324242 13883 1312673 ABCF2 ATP-binding cassette, sub-family F (GCN20), member 2 This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013] 7 7 q36 150535856 150555250 - 150904923 150924317 - 1580863;6480464 9878413;19343046;19002184;16996567;16203778;15489334;12853948;12690205;12477932;11435397;11124703;10944468;10922475;10581359;8894702;22252987;20877624;22863883;22939629;12840015;18781797;21987572;21139048;21890473;21906983;16009940;21963094;21988832;22504420;23000965;15790807;23382691;22053931;22505724 10061 C9JHK9;C9JZV3;Q75MJ1;Q9UG63 AACC02000108;ABBA01035160;ABBA01035161;AC021097;AF091073;AF261091;AF261092;AJ005016;AL050291;AMYH01018144;BC001661;BG720644;BT007451;CH471173;CR987440;HY165500;NM_005692;NM_007189 AAC72942;AAG13902;AAG13903;AAH01661;AAP36119;AAS00378;AAS00379;ABM83230;ABM86429;CAA06290;CAB43392;EAL24507;EAL24508;EAW54013;EAW54014;EAW54015;EAW54016;EAW54017;NP_005683;NP_009120;Q9UG63 Hs.654958 1659931;1779936;1853439;2139142;2176282;2216972;5020635 ABCF2_3305;D7S2124E;D7S3207;RH68744;SHGC-154184;WI-11989;WI-14058 ABC28;DKFZp586K1823;EST133090;HUSSY-18;HUSSY18;M-ABC1 ABC-type transport protein;ATP-binding cassette sub-family F member 2;Iron inhibited ABC transporter 2;OTTHUMP00000206140;OTTHUMP00000206141;iron-inhibited ABC transporter 2 APPROVED protein-coding ENSG00000033050 71 12403 612510 REVIEWED 732770 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] 2 2 p21 43919607 43959109 + 44066103 44105605 + 1300331;1601097;1580863;631968;1558629;1598662;1601095;1601094;1300237;6480464;6907045;7240710 11099417;12671028;11452359;14618236;16764892;15331430;15816807;11901146 14504269;16870176;19343046;19306529;19270375;19217458;19111681;19060906;19056482;19019257;19018975;19012522;19005228;18977479;18850127;18676680;18660489;18641716;18581044;18522623;18457353;18007013;17827468;17690481;17632509;17626266;17612515;17403900;17102949;17098593;17055487;16980816;16893193;16518588;16472606;15930516;15611112;15520451;15311998;15262185;15175352;14703505;12477932;12220438;12208868;12208867;12150943;12124998;12111378;11893785;11668628;11590207;22655090;20592455;20594224;20679960;19170196;19692168;19692220;19878569;20163776;20170916;20172523;20210363;20235787;20370913;20379614;20403997;20413122;20497293;20529992;19060911;20854103;21039838;21062971;20581104;20837016;21274884;20686565;22378727;23179156;21988832;23556150;23241408;22548731 64241 Q96A01;Q9H221 ABBA01075097;AC108476;AF320294;AF324494;AF351824;AF404106;AF404107;AMYH01010304;BC113657;BC143564;CH471053;NG_008884;NM_022437 AAG40004;AAI13658;AAI43565;AAK84078;AAK84663;AAK85386;AAK85389;AAY24011;ADR83246;EAX00285;NP_071882;Q9H221 Hs.413931 1337199;1701328;1797256;2151815;2175070;7183811 ABCG8_1950;D2S119;D2S2928;G29195;RH104294 GBD4;MGC142217;STSL ATP-binding cassette sub-family G member 8;ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2);ATP-binding cassette, subfamily G, member 8;OTTHUMP00000158952;atp-binding cassette, sub-family g (white), member 8;sterolin 2;sterolin-2 APPROVED protein-coding ENSG00000143921 13887 05679 210250;605460;611465 REVIEWED 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 3 3 3 q27.1 182345574 182353503 + 185386557 185394489 + 183903863 183911795 + 6480464 16344560;15489334;14702039;12477932;11435397;8894702;16169070;16159877;22863883;22939629;19471022;21139048;21906983;22472876;22053931 55324 F8WCU6;Q9NUQ8 ABBA01058455;AC131235;AK002060;AK024758;AK027288;AK092415;AK097073;AK126150;AK290106;AK299256;AK299433;AMYH01013711;BC009253;BC035652;BC051754;BC051884;CH471052;DB079392;DC318082;NM_018358 AAH09253;AAH51754;AAH51884;ADZ15454;BAA92063;BAB14989;BAC03881;BAF82795;BAG61287;BAG61411;EAW78288;EAW78289;NP_060828;Q9NUQ8 Hs.361323 1797250;1849731;2146236;2175732;2191001 A007B05;ABCF3_2614;G29218;MARC_12819-12820:999872670:3;RH41945 EST201864;FLJ11198 ATP-binding cassette sub-family F member 3;OTTHUMP00000210711;OTTHUMP00000210712 protein-coding ENSG00000161204 72 12404 VALIDATED 732219 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] 2 2 p21 43893115 43919462 - 44039611 44065958 - 1300331;1580863;1598659;1558629;1598662;1300236;6480464;6907045;7240710 11099417;16026620;14618236;16764892;12444248 19019257;19012522;19005228;18996102;18850127;18660489;18641716;18581044;18522623;18457353;18007013;17827468;17690481;17626266;17612515;17403900;17102949;17098593;17055487;16980816;16893193;16614398;16518588;16472606;16250035;15980630;15930516;15816807;15611112;15520451;15311998;15262185;15175352;15121760;14703505;14702039;12477932;12220438;12208868;12208867;12150943;12124998;11907139;11855938;11668628;11590207;14504269;17474147;16870176;19343046;19306529;19270375;19217458;19111681;19060911;11452359;11435688;11138003;9727073;22655090;19913121;20581104;20602615;20628086;20679960;17632509;19692220;19878569;19917453;19956635;20170916;20172523;20210363;20370913;20403997;20413122;20497293;20855565;20521169;20686565;20467438;23556150;23179156 64240 E5RFY8;E5RHB7;E7EX35;Q2T9G2;Q9H222 ABBA01075097;AC011242;AC108476;AF312715;AF320293;AF404106;AF404107;AK091997;AMYH01010304;BC111541;BC111542;CH471053;NG_008883;NM_022436 AAG40003;AAG53099;AAI11542;AAI72287;AAK85387;AAK85388;AAY14703;AAY24010;EAX00286;EAX00287;EAX00288;NP_071881;Q9H222 Hs.132992 1298195;1334808;1661783;1676714;1797254;2119527 ABCG5_2000;D2S1352;D2S1788;RH27092;RH70461;RH70519 STSL ATP-binding cassette sub-family G member 5;ATP-binding cassette, subfamily G, member 5;OTTHUMP00000158956;OTTHUMP00000201654;sterolin 1;sterolin-1 APPROVED protein-coding ENSG00000138075 13886 05678 210250;605459 REVIEWED 732853 ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008] 21 21 q22.3 42492868 42590423 + 43619799 43717354 + 1580863;1300235;6480464 10639163 16702602;15994327;17293612;16870176;17408620;11500512;18490524;16780588;19343046;19287193;19168441;18827283;18660489;18640393;18619413;18599800;18057374;17848583;17761632;17387528;17241464;17187964;17141191;17121837;17082211;17020879;16902247;16857950;16730733;16357317;16054053;16024918;15584507;15492319;15489334;15240127;14702039;12477932;12032171;11590207;11350058;11279031;11162488;11072082;10950923;10830953;10799558;9110174;22772754;22503545;9034316;8703120;8659545;8619474;19913121;20057170;20628086;20585627;16556852;19481530;19556716;19839639;19895785;19948975;20170916;20395595;20675829;20713650;20931526;20798376;21295304;21817095;21289254;22353356;22365996;22872754;21111593;22155456;19322201;21722899;21978921;22753765;23139370;23172659;22466164;21821149;22505724;22614118 9619 C9JKD9;E7ERE5;E9PGV9;Q9BXL1 AB038161;ABBA01014173;ABBA01014174;AF038175;AF323658;AF323660;AF323661;AF323662;AF323663;AF323664;AJ289137;AK092959;AK292152;AK298491;AL833689;AMYH01012267;AP001622;AP001623;AP001746;AY048757;BC029158;BX537588;CH471079;NM_004915;NM_016818;NM_207174;NM_207627;NM_207628;NM_207629;X91249 AAB97364;AAH29158;AAK28833;AAK28834;AAK28835;AAK28836;AAK28837;AAK28838;AAK28839;AAK28840;AAK28841;AAK28842;AAL06598;ABM82269;ABW03371;ACE87838;ACT64470;BAA95530;BAB13728;BAF84841;BAG60699;CAA62631;CAC00730;EAX09574;EAX09575;NP_004906;NP_058198;NP_997057;NP_997510;NP_997511;NP_997512;P45844 Hs.124649 1714751;1749435;1772316;1772318;1772751;1774459;1790645;2163142;2216974 A005U31;ABCG1_3286;D21S1225;G20514;G34692;RH120041;SHGC-111166;SHGC-87665;STS_CEB276 ABC8;MGC34313;WHITE1 ABC transporter 8;ATP-binding cassette sub-family G member 1;ATP-binding cassette transporter 8;ATP-binding cassette transporter member 1 of subfamily G;OTTHUMP00000109322;OTTHUMP00000109323;OTTHUMP00000109324;OTTHUMP00000109325;OTTHUMP00000109326;OTTHUMP00000109327;homolog of Drosophila white;white protein homolog (ATP-binding cassette transporter 8) APPROVED protein-coding ENSG00000160179 73 04355 603076 REVIEWED 6481284 ABHD11-AS2 ABHD11 antisense RNA 2 100874076 AC073846 APPROVED miscrna 40012 1314115 ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 The protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily and is expressed predominantly in liver tissue. The function has not yet been determined but may involve cholesterol transport. Alternate splice variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 11 11 q23.3 118524960 118538585 + 119019750 119033375 + 1580863;6480464 16344560;16870176;16682745;19343046;18668433;18660489;18508037;16902247;15489334;15240127;12477932;12183068;12137944;11856881;11606068;11435397;19913121;20628086;19948975;22391220 64137 E9PJ00;E9PPE3;Q9H172 ABBA01039678;AJ300465;AJ308237;AJ308238;AJ308251;AK289830;AK290035;AK308673;AL137563;AMYH01004080;AP002956;AY055472;BC041091;CH471065;DA093690;DA241043;NM_001142505;NM_022169 AAH41091;AAL16400;AAL16401;AAL16402;BAF82519;BAF82724;CAB70814;CAC17140;CAC87131;EAW67464;EAW67465;EAW67466;NP_001135977;NP_071452;Q9H172 Hs.126378 1673500;1795278 ABCG4_683;D11S2450 WHITE2 ATP-binding cassette sub-family G member 4;ATP-binding cassette, subfamily G, member 4;OTTHUMP00000232083;OTTHUMP00000232085;OTTHUMP00000232086;putative ABC transporter APPROVED protein-coding ENSG00000172350 13884 12130 607784 REVIEWED 1352615 ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 4 4 q22 89230440 89299035 - 89011416 89152474 - 1580863;2315573;2315584;2315568;2315569;2315580;2315587;2316977;5135288;6480464;6484113;6907045;7240710 19152228;17915193;11948115;15906349;18451542;16190927;17353665;19733976 20885358;21219875;21245102;15838659;12958161;22193459;9850061;18056989;16870176;9861027;19605531;19584153;19546880;19541926;19523815;19514121;19506252;19503597;19474787;19406100;19403814;19367293;19349540;19343046;19277036;19251825;19240161;19232821;19188929;19172464;19167193;19165709;19141860;19139722;19131524;19114588;19107936;19101070;19074750;19063604;19052456;19032367;19023099;18981009;18958403;18951337;18841445;18841444;18838068;18834626;18829547;18824712;18823676;18820285;18806751;18793608;18775442;18725232;18710444;18702307;18695635;18681776;18668433;18644784;18588889;18573883;18559609;18558430;18509645;18430864;18429968;18408567;18392808;18382425;18370855;18309947;18256692;18255023;18249138;18245481;18240903;18237272;18221820;18207572;18200595;18180275;18167504;18159130;18094074;18055445;18042733;17976197;17975119;17938643;17938326;17934801;17925548;17923155;17916067;17875533;17701580;17690695;17686774;17682070;17671398;17662239;17627617;17622941;17595345;17569884;17534875;17519960;17518356;17505995;17494054;17481587;17460607;17445775;17438106;17434155;17380269;17373578;17347325;17340137;17323127;17312388;17297656;17275084;17273774;17237154;17229149;17228519;17148776;17098188;17032904;16960658;16954373;16847575;16815914;16791115;16749862;16707421;16704962;16618113;16612649;16554028;16543472;16528971;16505951;16460798;16445700;16402910;16367905;16343180;16278398;16278376;16160819;16146333;16108826;16086592;16041239;16024622;16008690;15961534;15917307;15899516;15813675;15811951;15811555;15807535;15801936;15769853;15670731;15625123;15618737;15607361;15598974;15557326;15489334;15475413;15355921;15260487;15251980;15229462;15208643;15170677;15146167;15044468;15027118;15014037;15014021;15001581;14702039;14613996;14576842;14566825;12960109;12874005;12810652;12741957;12682043;12668685;12604403;12576456;12479221;12477932;12459192;12438926;12429862;12393637;12374800;12369998;12208758;12145683;12111378;12054514;11986944;11807788;11801536;11688982;11590207;11566359;11533706;11309308;11306452;10070941;9892175;8894702;22797727;21449672;21133588;19782739;19782742;20460431;20437864;20570348;20626554;20728430;19913121;20530282;20600004;20628086;20670164;20679960;20714133;20720558;21132002;17851787;17927879;18315895;18991020;19333723;19340456;19421150;19442037;19477032;19567678;19593328;19629677;19636001;19642144;19670287;19672972;19691360;19696792;19708828;19713741;19751749;19771428;19785662;19825807;19842935;19878569;19885582;19890391;19898482;19921266;19924384;19930591;19940551;19956635;19969351;20019844;20035425;20053405;20088606;20130569;20162742;20162743;20182906;20200437;20203106;20207952;20304939;20307139;20332504;20368174;20389299;20421215;20453000;20103600;20705611;20804740;20472486;20858845;20399185;20562004;20663031;20682644;20705604;20739628;20839930;20858603;20884846;20922799;20959405;20972558;21054463;21072184;20492723;20857515;19967559;20171362;20592365;20846001;20975373;19622290;19728910;21323575;21459080;21487020;20691148;21184741;21332310;21523728;21321273;21321274;21106767;21154157;21091277;22236447;22401348;22736306;22925688;22952907;22959800;22750628;23493553;22581381;20936466;21421882;21526180;21718815;20360068;21630164;21712253;23169446;22887864;22922104;22800348;22473764;20109342;21884202;21365123;21775706;21748335;21864296;21935580;21956451;21731744;21854076;21455636;21531129;21774076;21640380;20950350;21625222;21707071;21943250;15252757;20717756;21827403;21971989;22132962;22132963;22132966;22246505;22246507;22004608;22093699;23069916;23280364;21465479;21859328;21878538;22062654;21918980;22391220;22587765;22452996;22521545;21445088;22497316;21922333;21943158;22112610;22116099;22161105;22209971;22229870;22266374;22331829;22342288;22360504;22515119;22182917;22241070;22318606;22348008;22845311;23342897;23317196;23469685;21963094;22521463;23287578;23394449;22752253;23064961;23118302;23263486;22395309;20604570;20701289;23150485;23385102;22525603;23047249;23166586;23244569;23544272;19909340;21111494;22340044;22340101;22937733;23435138;22870247;23153455;23240156;23262099;23539627 9429 H0YAF1;H0YAF3;Q8IX16 AB051855;AB056867;ABBA01063543;ABBA01063544;ABBA01063545;ABBA01063546;AC084732;AC097484;AF093771;AF093772;AF098951;AF103796;AF463519;AK002040;AK290000;AMYH01014382;AMYH01014383;AY017168;AY288307;AY289766;AY333755;AY333756;BC011032;BC021281;BC092408;BI598784;CH471057;CQ757490;DQ459561;DQ459562;DQ459563;DQ459564;DQ459565;DQ459567;DQ459568;DQ459570;DQ459571;DQ459572;DQ459573;DQ459574;DQ459575;DQ459576;DQ459577;DQ459578;DQ459579;DQ459580;DQ459581;DQ459582;DQ459583;DQ459584;DQ459585;DQ459586;DQ459587;DQ459588;DQ459589;DQ459590;DQ459591;DQ459592;DQ459593;DQ459594;DQ459595;DQ459596;DQ459597;DQ459598;DQ459599;DQ459600;DQ459601;DQ459602;DQ459603;DQ459604;DQ459605;DQ459606;DQ459607;DQ459608;DQ459609;DQ459610;DQ459611;DQ459612;DQ459613;DQ459614;DQ996467;HQ386990;HQ386991;HQ386992;HQ386993;HQ386994;HQ386995;HQ386996;HQ386997;HQ386998;HQ386999;HQ387000;HQ387001;HQ387002;HQ387003;HQ387004;HQ387005;HQ387006;HQ387007;NG_032067;NM_001257386;NM_004827;U66681 AAC97367;AAD09188;AAG52982;AAH21281;AAH92408;AAO14617;AAP31310;AAP44087;AAQ92941;AAQ92942;AAY40902;ABI97388;ABM83234;ABM86433;ADO95109;ADO95110;ADO95111;ADO95112;ADO95113;ADO95114;ADO95115;ADO95116;ADO95117;ADO95118;ADO95119;ADO95120;ADO95121;ADO95122;ADO95123;ADO95124;ADO95125;ADO95126;BAA92050;BAB39212;BAB46933;BAF82689;CAF32512;EAX06012;EAX06013;NP_001244315;NP_004818;Q9UNQ0 Hs.480218 1338978;1797252;2150603;2174464;2176898;2179701;5022018;5106229 ABCG2;ABCG2_1993;D4S2623;RH18379;SHGC-24753;SHGC-59795;SHGC-67418;STS-AA001604 ABC15;ABCP;BCRP;BCRP1;BMDP;CD338;CDw338;EST157481;GOUT1;MGC102821;MRX;MXR;MXR1;UAQTL1 ABC transporter;ATP-binding cassette sub-family G member 2;ATP-binding cassette transporter G2;OTTHUMP00000161176;OTTHUMP00000219514;breast cancer resistance protein;gout susceptibility 1;mitoxantrone resistance protein;mitoxantrone resistance-associated protein;multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2;placenta specific MDR protein;placenta-specific ATP-binding cassette transporter APPROVED protein-coding ENSG00000118777 74 04783 138900;603756;614490 REVIEWED 1322201 ABHD1 abhydrolase domain containing 1 This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27192963 27199985 + 27200161 27207184 + 27346657 27353680 + 6480464 12735795;15815621;15489334;14702039;12477932;11922611 84696 C9J8C2;E9PDR9;F8WBB3;Q96SE0 ABBA01045194;ABBA01045195;AC013403;AK074615;AK093447;AMYH01010194;AY033290;BC028378;BC031868;BC039576;BC056403;CH471053;DB455979;NM_032604 AAH39576;AAK44222;AAX93169;BAG52718;EAX00631;EAX00632;EAX00633;EAX00634;NP_115993;Q96SE0 Hs.375791 1678143;1681223;1772066;2161521;5015961;5022322;5024756;5037552 D11S2560;D15S1477;D8S2279;RH35839;RH80030;RH92602;STS-N81134;WI-21131 FLJ36128;LABH1 OTTHUMP00000122587;OTTHUMP00000200960;abhydrolase domain-containing protein 1;lung alpha/beta hydrolase 1 APPROVED protein-coding ENSG00000143994 17553 07468 612195 REVIEWED 5133081 ABHD14A-ACY1 ABHD14A-ACY1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to be protein-coding. [provided by RefSeq, Nov 2010] 3 p 52009042 52023218 + 20967262 100526760 C9JMV9;F2Z3Q0 ABBA01024516;AC115284;AK294015;AK298086;AMYH01013181;NR_037192 BAG57376;BAG60372 Hs.334707 1658480;1683279 RH11608;RH66446 FLJ60317;FLJ60467 APPROVED miscrna ENSG00000114786 38856 VALIDATED 1346003 ABHD10 abhydrolase domain containing 10 This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 q13.2 110096908 110111290 + 113180589 113194896 + 111697828 111712210 + 737633;1580863;6480464 12477932 16381901;15489336;15489334;14702039;11256614;11076863;20379614;20877624;20562859;20000738;21139048;21890473;21906983;22294686;19322201;21078990;21832049;22400490;22813719 55347 B7Z6A8;C9IZX5;F8WBJ5;F8WBQ6;Q9NUJ1 ABBA01061669;AC060225;AK002204;AK093591;AK300018;AL713726;AMYH01013389;BC014516;CA427297;CH471052;DB453330;DB494690;DC395725;DR760607;NM_001272069;NM_018394;NR_073570;NR_073571 AAH14516;BAA92133;BAH13194;CAD28516;CAL37438;EAW79688;EAW79689;NP_001258998;NP_060864;Q9NUJ1 Hs.743466 1725069;1746029;2154513;2177474 D3S4249;RH118830;RH125627;WI-14974 FLJ11342 OTTHUMP00000214651;OTTHUMP00000214654;abhydrolase domain-containing protein 10, mitochondrial;alpha/beta hydrolase domain-containing protein 10, mitochondrial;mycophenolic acid acyl-glucuronide esterase, mitochondrial protein-coding ENSG00000144827 25656 07751 REVIEWED 1318018 ABHD13 abhydrolase domain containing 13 13 13 13 q33.3 89715507 89731348 + 107668764 107684604 + 108870763 108886603 + 6480464 18951430;16303743;15489334;15057823;14702039;12477932;19773279 84945 Q7L211 ABBA01027024;AK027812;AK124864;AL157762;AMYH01005363;BC018608;BC022566;BC070226;BQ424339;BX647428;CH471085;NM_032859 AAH22566;AAH70226;BAB55387;BAG54109;EAX09097;EAX09098;NP_116248;Q7L211 Hs.183528 5015992 Abhd13 BEM46L1;C13orf6;FLJ14906;MGC27058;RP11-153I24.2;bA153I24.2 OTTHUMP00000018692;abhydrolase domain-containing protein 13;alpha/beta hydrolase domain-containing protein 13;chromosome 13 open reading frame 6 protein-coding ENSG00000139826 20293 12618 VALIDATED 1349841 ABHD12B abhydrolase domain containing 12B 14 14 14 q22.1 31205922 31238736 + 50408628 50441438 + 51338878 51371688 + 6480464 18029348;15489334;14702039;12477932 145447 Q7Z5M8 ABBA01018146;AK128464;AL358334;AMYH01005723;AY311396;AY311397;AY311398;AY311399;BC034603;BC107141;BC107142;CH471078;NM_001206673;NM_181814 AAH34603;AAI07142;AAI07143;AAP78476;AAP78477;AAP78478;AAP78479;BAC87452;EAW65688;EAW65689;EAW65690;EAW65691;NP_001193602;NP_861535;Q7Z5M8 Hs.271896 1689785;2135477;2152475;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;G35512;HUM000S289;RH98538 BEM46L3;C14orf29;MGC129926;MGC129927;c14_5314 OTTHUMP00000178964;OTTHUMP00000244779;abhydrolase domain-containing protein 12B protein-coding ENSG00000131969 19837 VALIDATED 1314604 ABHD12 abhydrolase domain containing 12 This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011] 20 20 20 p11.21 25349117 25445220 - 25223379 25319477 - 25275379 25371618 - 6480464;7240710 16303743;15489334;14702039;12477932;11780052;20797687;17207965;21890473;22001757;22938382;22969151 26090 I3L1V0;I3L206;I3L294;I3L380;I3L440;Q5T712;Q9BX05 ABBA01048723;ABBA01048724;ABBA01048725;ABBA01048726;ABBA01048727;ABBA01048728;ABBA01048729;AK075023;AK290815;AK293495;AL117442;AL121772;AL353812;AMYH01011788;AMYH01011789;BC014049;BQ574269;BQ672998;BQ961739;CH471133;NG_028119;NM_001042472;NM_015600 AAH14049;ADQ32650;BAC11357;BAF83504;BAG56982;CAB55927;EAX10088;EAX10089;EAX10090;NP_001035937;NP_056415;Q8N2K0 Hs.441550 1675628;1679680;1686390;1690926;1725729 D20S589E;G62120;RH12467;RH39023;RH76548 ABHD12A;BEM46L2;C20orf22;DKFZp434P106;PHARC;dJ965G21.2 2-arachidonoylglycerol hydrolase;OTTHUMP00000030492;OTTHUMP00000030493;abhydrolase domain-containing protein 12;chromosome 20 open reading frame 22;monoacylglycerol lipase ABHD12 APPROVED protein-coding ENSG00000100997 15868 07094 612674;613599 REVIEWED 1601874 ABHD14A abhydrolase domain containing 14A 3 3 3 p21.1 51988316 51994490 + 51984124 51990252 + 52009042 52015216 + 6480464 15489334;15146197;14667578;12975309;12477932;8889548;22863883 25864 C9IYJ8;C9J7W8;C9JMW6;Q9BUJ0 ABBA01024516;AC115284;AK308592;AL050015;AMYH01013181;AY358201;BC002571;BM665207;CH471055;CN256406;NM_015407 AAH02571;AAQ88568;ACE86906;ACE87593;CAB43237;EAW65180;NP_056222;Q9BUJ0 Hs.534400 2191475 MARC_23666-23667:1029506618:1 DKFZp564O243;DORZ1;FLJ60317;FLJ60467 OTTHUMP00000212482;abhydrolase domain-containing protein 14A;alpha/beta hydrolase domain-containing protein 14A protein-coding ENSG00000248487 24538 08530 VALIDATED 1606493 ABHD11 abhydrolase domain containing 11 This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68628612 68631377 - 72788363 72791120 - 73150424 73153190 - 6480464 17567985;16381901;15498874;15489336;15489334;12853948;12477932;12073013;11076863;20877624;21832049;21596165;21890473;21906983 83451 C9J7Q4;H0YC52;H7BZ58;H7C396;Q8NFV4 ABBA01063941;AC073846;AF217971;AF412030;AF412031;AF412032;AMYH01017538;AY053499;AY053500;BC008251;BC011712;BC067750;BG722364;BM557977;BP423415;BP872816;CB998040;CH471200;DB460434;DR006453;NM_001145364;NM_148912;NM_148913;NR_026910;NR_026912 AAG17214;AAH08251;AAH11712;AAH67750;AAL14848;AAL14849;AAM62312;AAM62313;AAM62314;AAS07472;ABM82430;ABM85622;CAL37753;CAL38343;EAW69642;EAW69643;EAW69644;EAW69645;EAW69646;EAW69647;NP_001138836;NP_683710;NP_683711;Q8NFV4 Hs.647045 1697940;5022578;5037552 D1S1423;D8S2279;RH102499 PP1226;WBSCR21 OTTHUMP00000160502;OTTHUMP00000211791;OTTHUMP00000211794;OTTHUMP00000211795;OTTHUMP00000211796;Williams Beuren syndrome chromosome region 21;abhydrolase domain-containing protein 11;alpha/beta hydrolase domain-containing protein 11;williams-Beuren syndrome chromosomal region 21 protein APPROVED protein-coding ENSG00000106077 16407 15658 REVIEWED 1604668 ABHD17AP1 abhydrolase domain containing 17A pseudogene 1 1 1 q21.2 146083936 146088707 + 147618345 147622067 + 16710414 728917 AC239803;AMYH01001373;BX842679;NG_011738 FAM108A2 APPROVED pseudo 28394 INFERRED 2292190 ABHD17AP3 abhydrolase domain containing 17A pseudogene 3 1 1 q41 212845405 212849212 - 214778787 214782588 - 21139048;21890473;21906983 648359 ABBA01048143;AL445305;AMYH01001720;NG_030366 FAM108A4;FAM108A4P family with sequence similarity 108, member A4 APPROVED pseudo 34041 INFERRED 2293157 ABHD17AP4 abhydrolase domain containing 17A pseudogene P4 22 22 22 q11.21 4512838 4516580 - 19351862 19355557 - 21021885 21025627 - 10591208 729495 ABBA01015449;AC007050;AMYH01012536;CH471176;NG_023156 EAX02943 FAM108A5;FAM108A5P APPROVED pseudo 34042 INFERRED 1605591 ABHD15 abhydrolase domain containing 15 17 17 17 q11.2 24748479 24754842 - 24912437 24918174 - 27887679 27894042 - 6480464 14702039;12975309;12477932 116236 Q6UXT9 ABBA01015016;AC104564;AK055889;AK056717;AMYH01008290;AY358212;BC012476;CH471159;NM_198147 AAH12476;AAQ88579;EAW51191;NP_937790;Q6UXT9 Hs.106510 1677472;5021872 RH47444;sY3084 abhydrolase domain-containing protein 15 protein-coding ENSG00000168792 26971 14014 VALIDATED 3207450 ABHD17AP7 abhydrolase domain containing 17A pseudogene 7 16 16 p11.2 32645433 32648372 - 32737932 32740871 - 100133212 AC138907;NG_022980 FAM108A8P APPROVED pseudo 38508 INFERRED 3378585 ABHD17AP6 abhydrolase domain containing 17A pseudogene 6 17 17 17 p11.2 21794095 21797884 - 20684590 20688401 + 20744020 20747809 + 644988 ABBA01050452;AC090774;AMYH01008263;AMYH01008264;AMYH01008265;NG_022988 FAM108A7P APPROVED pseudo 34044 INFERRED 3418290 ABHD17AP9 abhydrolase domain containing 17A pseudogene 9 16 16 p11.2 33059680 33062619 + 33152189 33155344 + 100132251 ABBA01158098;AC138869;AC145350;NG_028293 FAM108A10P APPROVED pseudo 38510 INFERRED 3520891 ABHD17AP5 abhydrolase domain containing 17A pseudogene 5 This locus is a pseudogene in the FAM108 family, and lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jun 2010] 22 22 22 q11.22 6289376 6289876 - 20801874 20802374 - 22471874 22472374 - 10591208;9074928 91219 ABBA01055079;AMYH01012639;D86997;D88269;NG_000002 FAM108A6;FAM108A6P APPROVED pseudo 34043 REVIEWED 1347246 ABHD17A abhydrolase domain containing 17A 19 19 19 p13.3 1811047 1819590 - 1827975 1836432 - 1876975 1885518 - 737633;6480464 12477932 16344560;16303743;14702039;21906983;21890473;23000965;23088713;22505724 81926 K7ENJ6;K7EQ25;Q96GS6 ABBA01002691;AC012615;AK024419;AK074043;AK074548;AK090438;AK289533;AMYH01009267;AMYH01009268;BC000158;BC009256;BC011667;BC020512;BC033749;BC035961;BC050605;BC071644;BC071876;BC094816;CH471139;CQ782500;DB025570;NM_001130111;NM_031213 AAH00158;AAH09256;AAH11667;AAH20512;AAH33749;AAH35961;AAH71644;AAH71876;AAH94816;BAB15709;BAB84869;BAC03419;BAC11052;BAF82222;CAF85784;EAW69440;EAW69441;EAW69442;EAW69443;EAW69444;EAW69445;EAW69446;EAW69447;NP_001123583;NP_112490;Q96GS6 Hs.465542;Hs.653679 C19orf27;FAM108A1;MGC5244 abhydrolase domain-containing protein FAM108A1;alpha/beta hydrolase domain-containing protein 17A;chromosome 19 open reading frame 27;family with sequence similarity 108, member A1 APPROVED protein-coding ENSG00000129968 28756 07475 VALIDATED 2859282 ABHD17AP8 abhydrolase domain containing 17A pseudogene 8 16 16 p11.2 32118711 32121644 + 32211210 32214143 + 647144 AC133485;AMYH01007520;NG_023021 FAM108A9P APPROVED pseudo 38509 INFERRED 1603002 ABHD14B abhydrolase domain containing 14B 3 3 3 p21.2 51981800 51987920 - 51977571 51983070 - 52002526 52008646 - 6480464 16344560;16303743;15489334;14702039;12477932;11053859;8889548;18029348;21139048 84836 B4DQI4;F8W9U3;Q96IU4 ABBA01024517;AC115284;AK075112;AK092152;AK096073;AK296599;AK298022;AK298813;AMYH01013181;BC007234;BC050650;BC056411;BC071931;BU732936;CH471055;CQ783024;CQ783152;CS072398;CS488917;DA315486;NM_001146314;NM_001254753;NM_032750 AAH07234;AAH50650;AAH56411;BAC04696;BAC11408;BAG59212;BAG60325;BAG60946;CAF86231;CAF86358;CAI93536;CAM55991;EAW65178;EAW65179;NP_001139786;NP_001241682;NP_116139;Q96IU4 Hs.420796 1852613;2181930 RH16446;SGC33900 CIB;MGC15429 CCG1-interacting factor B;OTTHUMP00000212466;OTTHUMP00000212467;OTTHUMP00000212469;OTTHUMP00000229616;abhydrolase domain-containing protein 14B;alpha/beta hydrolase domain-containing protein 14B;cell cycle gene 1-interacting factor B protein-coding 28235 17504 VALIDATED 1320221 ABHD16B abhydrolase domain containing 16B 20 20 20 q13.33 59176749 59178524 + 61963010 61964785 + 62492566 62494341 + 6480464 15489334;12477932;11780052;8889548 140701 Q96F95;Q9H3Z7 ABBA01021427;AL118506;AMYH01012094;AW772131;BC031949;BM700775;CH471077;NG_029863;NM_080622 AAI66655;EAW75203;NP_542189;Q9H3Z7 Hs.266774;Hs.675171 C20orf135;MGC42974;dJ591C20.1 OTTHUMP00000031618;abhydrolase domain-containing protein 16B;hypothetical protein LOC140701 APPROVED protein-coding ENSG00000183260 16128 12746 VALIDATED 1351609 ABHD16A abhydrolase domain containing 16A A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 6 6 6 p21.3 33252945 33269362 - 31762715 31779067 - 31654726 31671137 - 1580863;6480464 14667819;15231747;19116923;19115949;18835879;15498874;15489334;14702039;14656967;14574404;12665801;12477932;2911734;2813433;20626023;21044367;15342556;19423540;19851445;20406964;20438785;17461779;21987572;21890473;20706999;23000965 7920 B0UXB6;B3KNX9;B7Z8I9;F2Z3G6;F2Z3H2;F2Z3Q3;O95870 ABBA01038084;AF129756;AF193047;AI076373;AK001207;AK023194;AK025398;AK055255;AK289469;AK297712;AK303496;AK308573;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BC031839;BE272017;BP261875;BX248244;BX511262;CH471081;CR354443;CR753842;CR759761;CR759787;DC318775;DC360732;NM_001177515;NM_021160;NR_033488;NR_033489 AAD18079;AAG22475;AAH31839;ABM82251;ABM85435;BAA91553;BAB14455;BAB63383;BAF82158;BAG51491;BAH12652;BAH13975;EAX03482;EAX03483;EAX03484;NP_001170986;NP_066983;O95870 Hs.388188 1652322;1672384;1852466;2124097;2149085;2175528;5113615 A002L14;D6S1165E;D6S1938;NIB1238;RH1536;RH93334;WI-10341 BAT5;D6S82E;NG26;PP199 HLA-B associated transcript 5;OTTHUMP00000029258;OTTHUMP00000174407;abhydrolase domain-containing protein 16A;protein BAT5;protein G5 APPROVED protein-coding ENSG00000204427 13921 15929 142620 REVIEWED 1313162 ABHD17B abhydrolase domain containing 17B 9 9 9 q21.13 45050096 45098877 - 73667188 73715968 - 74477368 74526148 - 737633;6480464 12477932 15489334;15164053;10810093;21139048;21906983;22505724 51104 Q5VST6 ABBA01033843;AF151825;AI564777;AK293060;AL138751;AL671309;AMYH01021401;AMYH01021402;AMYH01021403;BC038390;BC044576;BG720713;CH471089;NM_001025780;NM_016014 AAD34062;AAH38390;AAH44576;BAF85749;EAW62521;EAW62522;NP_001020951;NP_057098;Q5VST6 Hs.380389 1663648;1723191;2163353;2165118;5037552 AFMa116yg9;D8S2279;RH121524;SHGC-36713;STS-T90485 C9orf77;CGI-67;FAM108B1;RP11-409O11.2 OTTHUMP00000021455;OTTHUMP00000021456;abhydrolase domain-containing protein FAM108B1;alpha/beta hydrolase domain-containing protein 17B;chromosome 9 open reading frame 77;family with sequence similarity 108, member B1 APPROVED protein-coding ENSG00000107362 24278 12978 VALIDATED 1603613 ABHD17C abhydrolase domain containing 17C 15 15 15 q25.1 57925147 57985463 + 78774707 78835017 + 80987652 81047962 + 6480464 14702039;12477932;22542470;21963094;21139048;21906983 58489 H0YN98;Q6PCB6 ABBA01060630;ABBA01060631;AC023302;AK091780;AK092758;AK298606;AL390079;AMYH01006850;AMYH01006851;BC059401;BC115003;CH471136;NM_021214 AAH59401;AAI15004;BAG60790;CAB98203;EAW99113;NP_067037;Q6PCB6 Hs.459072 1665643;1693798;1754651 SHGC-133006;SHGC-58937;WI-14644 FAM108C1;FLJ34461;MGC131546 abhydrolase domain-containing protein FAM108C1;alpha/beta hydrolase domain-containing protein 17C;family with sequence similarity 108, member C1 APPROVED protein-coding ENSG00000136379 26925 VALIDATED 1321686 ABHD3 abhydrolase domain containing 3 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 16036856 16090764 - 17484856 17538724 - 19230858 19284766 - 6480464 12477932;11922611;9110174;8619474;16344560;15489334;17207965;21890473;21906983;22359512 171586 B7Z5C2;J3KSP1;J3KTE1;J3QQR0;J3QR14;Q8WU67 ABBA01022676;ABBA01022677;ABBA01022678;AC106037;AF007152;AK024880;AK024992;AK298728;AMYH01008876;BC021196;CH471088;DB126083;EF444943;NM_138340 AAC19155;AAH21196;ACA05928;ADQ32713;BAH12858;EAX01131;NP_612213;Q8WU67 Hs.397978 1689943;2139451;2172271;2178357 RH45853;RH46292;RH46524;SHGC-64279 LABH3;MGC11259 abhydrolase domain-containing protein 3;alpha/beta hydrolase domain containing protein 3;lung alpha/beta hydrolase 3 APPROVED protein-coding ENSG00000158201 18718 12405 612197 REVIEWED 1313870 ABHD8 abhydrolase domain containing 8 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 17304682 17316010 - 17263940 17275282 - 17402940 17414282 - 737633;1580863;6480464 12477932 16344560;15489334;14702039;20852631;8125298 79575 B2C6G3;M0QX40;M0QZA8;Q96I13 ABBA01051191;ABBA01051192;AC010463;AK021805;AK225140;AK225340;AK298251;AK315366;AMYH01009570;BC007895;BC011536;BC020173;BC039087;CH471106;DA137174;DA357595;EU285559;NM_024527 AAH07895;AAH20173;AAH39087;ABZ79723;BAB13900;BAG37759;BAG60516;EAW84589;NP_078803;Q96I13 Hs.515664 2218968 ABHD8__4234 FLJ11743;MGC14280;MGC2512 abhydrolase domain-containing protein 8 APPROVED protein-coding ENSG00000127220 23759 12409 VALIDATED 1322825 ABHD2 abhydrolase domain containing 2 This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 66032695 66146881 + 87432429 87546591 + 89631381 89745591 + 1580863;6480464 18029348;17980156;16344560;15489334;14702039;12477932;11922611;8125298;2843827;16751776;20007591;21890473;21906983;21963094;23000965;23251661;22505724 11057 H3BMT2;H3BN19;H3BUZ6;P08910 ABBA01053004;ABBA01053005;ABBA01053006;AC013565;AC124068;AF546700;AI916724;AI918734;AK000554;AK095685;AK125089;AK127559;AK222841;AK223083;AK290340;AK296827;AL109729;AL110291;AMYH01006912;AMYH01006913;BC017905;BC019248;BC090052;BI459790;BI464471;CH471101;CR749694;DB024314;DB049736;DC369843;DC397201;DQ574578;DQ576078;NM_007011;NM_152924;X12433 AAH19248;AAH90052;AAQ12021;ABM82555;ABW03395;BAD96561;BAD96803;BAF83029;BAG59397;CAA30976;EAX02033;EAX02034;EAX02035;NP_008942;NP_690888;P08910 Hs.122337 1663281;1680731;1689586;1794362;2113178;2131388;2138807;5014585;5109281 D15S1499;D1S1425;G27598;PMC311040P2;RH18085;RH66720;RH93467;STS-N68085;STS-R00701 HS1-2;LABH2;MGC111112;MGC26249;PHPS1-2 OTTHUMP00000192923;abhydrolase domain-containing protein 2;alpha/beta hydrolase domain containing protein 2;lung alpha/beta hydrolase 2;protein PHPS1-2 APPROVED protein-coding ENSG00000140526 18717 09791 612196 REVIEWED 1342875 ABHD5 abhydrolase domain containing 5 The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008] 3 3 p21 43707379 43735296 + 43732375 43764217 + 1598668;1580863;6480464;7240710 11590543 21122093;18832586;18606822;18339307;17631826;17495960;17308334;16679289;15967942;15489334;12477932;10810093;9110174;8619474;22383684;22373837;20307695;20520629;15136565;19061969;19401457;20370797;21757733;20467438;21963094;21139048;22245374 51099 C9J1D1;C9JBM3;F8W7B5;H7BZY9;Q8WTS1 ABBA01024758;AC105903;AF007132;AF151816;AK313811;AL606838;AMYH01013118;BC021958;BG721387;CH471055;NG_007090;NM_016006 AAD34053;AAH21958;ABM82101;ABM85283;BAG36547;CAD12731;EAW64699;NP_057090;Q8WTS1 Hs.19385 1648190;1651198;1659921;1691110;1771552;1853426;1855237;2112576;2138224;2157934;2162315;2174310 D3S3021;D3S4348;RH69765;RH79809;SHGC-57882;SHGC-76877;SHGC-76879;SHGC-76892;SHGC-76893;STS-F10866;STS-N63539;WI-14732 CDS;CGI58;IECN2;MGC8731;NCIE2 1-acylglycerol-3-phosphate O-acyltransferase ABHD5;OTTHUMP00000164033;abhydrolase domain-containing protein 5;lipid droplet-binding protein CGI-58 APPROVED protein-coding 21396 05308;11986 275630;604780 REVIEWED 1323534 ABHD4 abhydrolase domain containing 4 14 14 14 q11.2 2930195 2944309 + 22136987 22151105 + 23067147 23081265 + 1580863;6480464 18029348;16818490;15489334;14702039;12477932;22488300;21900206;21139048;21890473 63874 B4DDH7;F5GZC9;F5H067;F5H6T0;H0YFD5;J3KMW0;Q8TB40 ABBA01061280;AK022878;AK024790;AK293198;AK298127;AK301315;AL160314;AMYH01005597;BC024779;CH471078;NM_022060 AAH24779;BAB14289;BAG56738;BAG60407;BAG62866;EAW66251;NP_071343;Q8TB40 Hs.445665 1652408;1676444 D14S1350;RH91439 ABH4;FLJ12816 OTTHUMP00000164495;OTTHUMP00000239718;abhydrolase domain-containing protein 4;alpha/beta-hydrolase 4;lyso-N-acylphosphatidylethanolamine lipase protein-coding ENSG00000100439 20154 12406 VALIDATED 1351473 ABI1P1 abl-interactor 1 pseudogene 1 14 14 14 q22.3 36062590 36066392 + 55082979 55086654 + 56013277 56017081 + 326268 ABBA01018212;AL138499;AMYH01005748;NG_002531 1731627 D14S178 ABI1P;SSH3BP1P APPROVED pseudo 20035 INFERRED 1351429 ABHD6 abhydrolase domain containing 6 3 3 3 p14.3 58237772 58295009 + 58198349 58255501 + 58223259 58280461 + 6480464 16344560;15489334;14702039;12477932;8125298;18360779;19793082;22827915;22969151;21139048;21906983;22505724 57406 C9J010;C9JNE7;F8WBP4;Q9BV23 ABBA01024391;ABBA01024392;AC098479;AC137936;AF225418;AK122983;AK172797;AK225942;AK313168;AMYH01013228;BC001698;CH471055;DA266414;NM_020676 AAG09720;AAH01698;BAD18771;BAG35986;BAG53832;EAW65360;EAW65361;EAW65362;EAW65363;EAW65364;EAW65365;NP_065727;Q9BV23 Hs.476454 1679305;1784834;5115035;5115037 G20643;RH80347;SHGC-155512;STS-G20643 2-arachidonoylglycerol hydrolase;OTTHUMP00000214181;OTTHUMP00000214182;abhydrolase domain-containing protein 6;lipase protein;monoacylglycerol lipase ABHD6 protein-coding ENSG00000163686 21398 12407 VALIDATED 1604650 ABI1 abl-interactor 1 This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011] 10 10 p11.2 27075531 27189965 - 27035525 27150016 - 6480464;6484113 15489334;15164054;15048123;12681507;12672821;12665801;12547160;12522270;12477932;12127568;12011975;11956071;11557983;11418237;11099046;11034908;11003655;10995551;10499589;9694699;1049958;14565974;15696170;9593709;9010225;17101133;18328268;17951403;17943163;17501982;17081983;16899465;16225669;16182283;15893754;15769844;15657136;15591787;20479892;20598684;11516653;15032605;15289329;16055720;16344560;16385451;19158278;19843640;20110575;20193272;8943360;19554484;16417406;21118970;21320496;20137729;22939629;21875946;21078624;21900237;21139048;22014333;22430194;17395426;21046228;22808230;22505724 10006 A6NFN2;B6VEX3;B6VEX4;B6VEX5;F5H1G9;F8WA55;F8WA56;Q96S81 AB040151;AB209268;ABBA01034409;ABBA01034410;ABBA01034411;ABBA01034412;AF001628;AF006516;AF260262;AF540955;AJ277065;AK126803;AK291823;AK296751;AK298646;AK315914;AL139404;AL390961;AMYH01002201;AMYH01002202;AMYH01002203;BC013238;BC024254;CH471072;DB019974;FJ380057;FJ380058;FJ380059;NG_030025;NM_001012750;NM_001012751;NM_001012752;NM_001178116;NM_001178119;NM_001178120;NM_001178121;NM_001178122;NM_001178123;NM_001178124;NM_001178125;NM_005470;U87166 AAB62569;AAC39757;AAD00897;AAF70309;AAH24254;AAN28379;ACJ12783;ACJ12784;ACJ12785;BAB55675;BAD92505;BAF84512;BAG54374;BAG59334;BAG60820;BAH14285;CAB88006;EAW86077;EAW86078;EAW86079;EAW86080;EAW86081;EAW86082;EAW86083;NP_001012768;NP_001012769;NP_001012770;NP_001171587;NP_001171590;NP_001171591;NP_001171592;NP_001171593;NP_001171594;NP_001171595;NP_001171596;NP_005461;Q8IZP0 Hs.508148 1341485;1716593;1755173;2189895;5123927 99-1126;D10S593;RH121642;SHGC-142094;WI-15761 ABI-1;ABLBP4;E3B1;NAP1BP;SSH3BP;SSH3BP1 Abelson interactor 1;Abl-interactor protein 1 long;OTTHUMP00000019348;OTTHUMP00000019349;OTTHUMP00000019350;OTTHUMP00000019351;OTTHUMP00000019352;OTTHUMP00000019353;OTTHUMP00000019354;OTTHUMP00000019355;abl interactor 1;abl-binding protein 4;ablBP4;eps8 SH3 domain-binding protein;eps8 binding protein;eps8-binding protein;interactor protein AblBP4;nap1 binding protein;nap1-binding protein;spectrin SH3 domain binding protein 1;spectrin SH3 domain-binding protein 1 APPROVED protein-coding ENSG00000136754 11320 04336 603050 REVIEWED 1323432 ABI3 ABI family, member 3 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates Rac-dependent actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. [provided by RefSeq, Sep 2008] 17 17 17 q21.3 43742068 43755066 + 44642588 44655586 + 47287589 47300587 + 6480464 11501947;11956071;17101133;16381901;16189514;15489336;15489334;12477932;12011975;11230166;11076863;10978530;21223585;11256614;19060904;23382691 51225 I3L1X2;I3L3W4;Q9P2A4 AA808681;AB037886;ABBA01041192;ABBA01041193;AC004797;AC069454;AL136709;AMYH01008460;BC007780;BI768790;CH471109;NM_001135186;NM_016428 AAH07780;ABM84016;ABM87361;BAA90667;CAB66644;CAL37657;CAL37800;EAW94687;NP_001128658;NP_057512;Q9P2A4 Hs.130719 NESH;SSH3BP3 ABI gene family member 3;ABI gene family, member 3;OTTHUMP00000220013;OTTHUMP00000220014;new molecule including SH3 APPROVED protein-coding ENSG00000108798 29859 05900 606363 REVIEWED 1353143 ABI2 abl-interactor 2 2 2 q33 203901248 204005137 + 204193003 204296892 + 1580863;6480464 7590236;8649853;12011975;11516653;17101133;19158278;18632609;17903303;17389688;16488906;15489334;15146197;14702039;12477932;10995551;10964520;10498863;12463424;10858458;12569093;16189514;15509564;22863883;17043677;22304832;21862451;21139048;22745667;22505724 10152 E7EP65;E7EUA1;E7EW77;E9PEZ7;F8WAL6;F8WAQ3;F8WAU3;F8WAZ8;F8WBL5;F8WCD7;F8WEB9;H0Y6B5;H7C3Q7;J3KNB2;Q9NYB9 ABBA01062610;ABBA01062611;ABBA01062612;AC018891;AC080075;AF085867;AF260261;AK054863;AK294429;AK297537;AK299092;AK299672;AK299679;AK299688;AK299750;AK299824;AK302853;AK316000;AK316343;AMYH01011416;BC001439;BC033944;BT009920;CH471063;CN371368;DB455742;NM_005759;U23435;U31089;X95632 AAA75446;AAA92289;AAF70308;AAH01439;AAP88922;AAY14675;AAY14935;ABM81661;ABM84833;BAG57674;BAG59937;BAG61587;BAG61640;BAG61693;BAH12947;BAH13098;BAH13103;BAH13822;BAH14371;BAH14714;CAA64885;EAW70335;EAW70336;EAW70337;EAW70338;EAW70339;EAW70340;EAW70341;EAW70342;EAW70343;NP_005750;Q9NYB9 Hs.471156 1657846;1665404;1677694;1727213;1728859;1760785;2109019;2146492;2162333;5022578 ABI2_9049;D1S1423;G54499;G62861;RH68335;RH79129;RH93388;SHGC-144302;SHGC-14739;SHGC-62017 ABI-2;ABI2B;AIP-1;AblBP3;SSH3BP2;argBPIA;argBPIB OTTHUMP00000163783;OTTHUMP00000163784;OTTHUMP00000206182;OTTHUMP00000206183;OTTHUMP00000206184;OTTHUMP00000206185;abelson interactor 2;abl binding protein 3;abl interactor 2;abl-binding protein 3;abl-interacting protein 1 (SH3-containing protein);abl-interactor protein 2b;arg protein tyrosine kinase-binding protein;arg-binding protein 1;argBP1 protein-coding ENSG00000138443 24011 606442 VALIDATED 1342972 ABL1 c-abl oncogene 1, non-receptor tyrosine kinase The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. [provided by RefSeq, Jul 2008] 9 9 q34.1 132579089 132752883 + 133589268 133763062 + 1580863;1598673;6480464;6484113;6907045 3021820 17192257;16912036;10945997;8114715;22311485;22454521;22847163;19108887;19075013;19061839;19052872;19048492;19020542;19016792;19001122;18950845;18936177;18827185;18809728;18794796;18784740;18775312;18771174;18765637;18704194;18687796;18619508;18603549;18546844;18538733;18490454;18480061;18480060;18427551;18413724;18406870;18401414;18391983;18369471;18362889;18339898;18305550;18305217;18287094;18262060;18180382;18161990;18095154;18089786;18082628;18059481;18036399;17972958;17943163;17928051;17925491;17893873;17889935;17804707;17768119;17764157;17762503;17761812;17710227;17695727;17638918;17623672;17620332;17604596;17599053;17597804;17587335;17579186;17570524;17541395;17525531;17486070;17470736;17470729;17374743;17366548;17349636;17347407;17339230;17303698;17268511;17252009;17237826;17196995;9144171;8242749;11971963;10391249;12893824;12944467;19442657;19427856;19383348;19332026;19285032;19275932;19260121;19234221;19203793;19180499;19156526;19135771;19124506;17160020;17126298;17101133;17081983;16998483;16966279;15661746;15657136;15657060;15626746;15608616;15591787;15588985;15583852;15542838;15481444;15361874;15175272;15143187;14993251;14966468;14745431;14679214;14670960;14657955;14581377;14534537;14527680;12952226;16899465;16867995;16678104;16636310;16630659;16543148;16448696;16410245;16386788;16205638;16199863;16158059;16151465;16091742;16014719;15961388;15857938;15735728;15723338;15716990;15696159;15686624;12928501;12921956;12890867;12824179;12810679;12781448;12777400;12777393;12764153;12672821;12665579;12663457;12654250;12650908;12637538;12623848;12573241;12569093;12560071;12556557;12525554;12522270;12505259;12477932;12475393;12468540;12445832;12408765;12393636;12384576;12379650;12374739;12374288;12220663;12198159;12149456;12144533;12138893;12130516;12110584;12024016;12021275;11956190;12950161;12130510;11955625;11891774;11853795;11840343;11781820;11780146;11741929;11708318;11598012;11593427;11509666;11494134;11494128;11423618;11420673;11418237;11390389;11380621;11375976;11374898;11350980;11309382;11279131;11278340;11266449;11163214;11121037;11120811;11024037;11021760;10988075;10970852;9516488;9480911;9461559;9407116;9356459;9334312;9315092;9312071;9211900;9168117;9168116;9111318;9067577;9010225;8943360;8879209;8875975;8692915;8668151;8668148;8630736;8629002;8590002;8453102;8438166;9583676;8194526;10892742;10849448;10777567;10713716;10708759;10679771;10637231;10635328;10629029;10574931;10567556;10488096;10455176;10391251;10391250;10212258;10194451;10187839;9949177;9798959;9698566;9642287;9632734;9603926;9593709;10896159;7892170;7828850;7780740;7760813;7665185;7590236;7545908;7533294;7512963;7493940;6323103;6319012;6316147;6302194;6281890;6191223;4062888;3471171;3313010;3023859;3021337;2989703;2989692;2825022;2687768;2678002;2542016;2193202;2183353;2163052;1868241;1857987;1538749;1505033;1383690;1379745;1281542;7926767;9820532;8978305;9747873;9006901;11827972;8810278;9774693;10753870;11071635;9008161;12543778;8112292;1712671;11431473;11790798;9071815;9872323;7565761;10608806;8294442;12681507;15886098;15735735;9632788;10571082;21454413;17409407;21183952;21220745;21072043;12626632;20581864;21266020;19697154;20367437;20595523;20563669;10837221;12107171;12379115;14725908;16219545;16648821;16831423;16888623;17129785;17254966;17474147;17888034;17956664;18280240;18614052;19261608;19295548;19357699;19363261;19369965;19423701;19542604;19557636;19571320;19608682;19625707;19643477;19652056;19657362;19658100;19660459;19679652;19724931;19738611;19789182;19829692;19833721;19876398;19897486;19906645;19914245;19954044;20007699;20010464;20038234;20056178;20073070;20079431;20082857;20124512;20152788;20201926;20234815;20453000;20512393;20425353;20482842;20633771;20861316;20697350;19768693;20974687;20585028;20629032;20598684;20697894;20823226;15923648;19968720;20717963;20724541;20937825;18029348;20452982;21239056;21435002;21156844;20863169;21480391;12167702;15937340;21045136;21320496;22231445;22957062;22974441;8626527;22733220;22879933;22939629;22233112;22988030;21203397;21674858;21321929;21388681;21888027;21504383;21641753;21781306;21715626;21935931;23117882;21248063;21591355;21527514;9037071;21129254;21693657;21209200;21961412;21998569;20798688;21764785;20675402;21694468;21900237;21071472;21903771;21960589;15556646;8626543;9195915;9710592;22665066;23325923;19953087;22001646;22238610;22252550;22783572;21461967;22526369;22590567;10372803;10829062;16955467;19531213;19818398;19823681;19891780;21221851;22327338;22447844;22462553;22591684;22593461;22649097;19700222;21455220;22014333;22054731;22089930;22140458;22184410;22380496;22327125;22314255;22378042;21368377;21892207;22471662;23044928;16135792;18235045;22334513;22693568;7968380;8524328;9174058;16273093;17352427;18067320;22939624;23171811;23009571;23207522;23383002;23316053;23062104;23289634;22038725;22833565;22952603;23428668;23062378;23303187;23319661;1571536;22782217;9478921;23223358;23053188;23124138;22870928;23269583;10967110;14604282;18070606;18559503;18835194;19380743;20585556;22632162;22787435;22865780;23087049;23287430 25 P00519;Q13688;Q59FK4;R4GRW0 AA524892;AB209456;AB209642;ABBA01012061;ABBA01012062;ABBA01012063;ABBA01012064;ABBA01012065;ABBA01012066;ABBA01012067;AK294983;AL161733;AL359092;AL707819;AMYH01021772;AMYH01021773;AMYH01021774;BC107069;BC107070;BC117451;CA335983;CH471090;DQ145721;K00009;M14752;M14753;M14754;M25946;M25949;M30833;NG_012034;NM_005157;NM_007313;S69223;U07563;X16416 AAA35593;AAA35697;AAA51561;AAA51562;AAA51563;AAA51895;AAA88011;AAA88012;AAB60393;AAB60394;AAD14034;AAI07070;AAI07071;AAI17452;AAZ38718;BAD92693;BAD92879;BAG58052;CAA34438;EAW87947;EAW87948;EAW87949;NP_005148;NP_009297;P00519 Hs.431048 1677344;1699810;1741183;1741185;1741553;1793278;1850251;2106941;2119400;2131484;2147020;5017629;5093008;5119529 A009E06;ABL1_685.2;BCR;G29321;G32466;GDB:177067;GDB:178527;GDB:178528;GDB:181505;PMC20354P4;RH103512;RH69429;RH80013;WI-12399 ABL;JTK7;bcr/abl;c-ABL;p150;v-abl Abelson tyrosine-protein kinase 1;OTTHUMP00000022375;OTTHUMP00000022376;bcr/c-abl oncogene protein;c-abl oncogene 1, receptor tyrosine kinase;proto-oncogene c-Abl;proto-oncogene tyrosine-protein kinase ABL1;tyrosine-protein kinase ABL1;v-abl Abelson murine leukemia viral oncogene homolog 1 APPROVED protein-coding ENSG00000097007 76 01809 189980 REVIEWED 1352263 ABL2 c-abl oncogene 2, non-receptor tyrosine kinase This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 1 1 q25.2 177335085 177465390 - 179068462 179198819 - 1580863;6480464;6907045 15886098;17474147;12893824;2198571;19275932;18810762;18660502;17192257;17081983;16710414;16678104;16344560;15765532;15729383;15679048;15489334;14702039;12950161;12777400;12748290;12569093;12522270;12477932;12406085;12374288;12220663;12198159;11956190;11494128;11278261;10706884;10590083;10521789;9642287;9480911;9211900;8875975;8700546;8125298;3787260;1383690;21543883;21892207;22318606;9774693;15735735;17910947;10892742;20077570;20448119;16751776;20150913;20936779;19913121;20628086;20800603;21257711;22974441;22777352;19953087;22036096;19380743;16273093;16964398;18067320;20467438;21988832 27 Q6NZY6 ABBA01027819;ABBA01027820;ABBA01027821;ABBA01027822;ABBA01027823;ABBA01027824;AK025877;AK056280;AK225255;AK309549;AK311045;AL139132;AL359179;AL512326;AMYH01001529;BC065912;BQ014912;BX538317;CH471067;DA596675;DB280398;DQ009672;FJ542283;FJ542284;FJ542285;FJ542286;M14904;M35296;NG_028242;NM_001136000;NM_001136001;NM_001168236;NM_001168237;NM_001168238;NM_001168239;NM_005158;NM_007314 AAA35553;AAH65912;AAY16984;ACK76601;ACK76602;ACK76603;ACK76604;CAD98092;EAW91040;EAW91041;NP_001129472;NP_001129473;NP_001161708;NP_001161709;NP_001161710;NP_001161711;NP_005149;NP_009298;P42684 Hs.159472 1649128;1652365;1652367;1659077;1701674;1708152;1771838;1795280;2134124;2146281;5015619;5015861;5016478;5021872;5022200;5022578;5024039;5114087;7185938 A005M30;ABL2_197;D10S16;D11S3114;D16S325;D1S1423;G20336;GDB:434012;L18426;RH104509;RH66836;RH69130;SGC38261;SHGC-75958;SHGC-75959;SHGC-75998;SHGC-79323;sY3084 ABLL;ARG;FLJ22224;FLJ31718;FLJ41441 Abelson murine leukemia viral (v-abl) oncogene homolog 2;Abelson tyrosine-protein kinase 2;Abelson-related;OTTHUMP00000033139;OTTHUMP00000033140;OTTHUMP00000218101;OTTHUMP00000218102;OTTHUMP00000218103;OTTHUMP00000218104;OTTHUMP00000218105;OTTHUMP00000218106;OTTHUMP00000218107;OTTHUMP00000218108;OTTHUMP00000240781;abelson murine leukemia viral oncogene homolog 2;abelson-related gene protein;arg tyrosine kinase;tyrosine-protein kinase ABL2;tyrosine-protein kinase ARG;v-abl Abelson murine leukemia viral oncogene homolog 2;v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000143322 77 01259 164690 REVIEWED 1349467 ABI3BP ABI family, member 3 (NESH) binding protein 3 3 3 q12 98859820 99104005 - 101950869 102195004 - 100468179 100712334 - 6480464 12477932;19338757;19240061;18559958;16344560;16205947;15752759;15489334;14702039;11501947;20936779;21041247;17314511;22952844 25890 B4DSV9;D3YTG3;E9PPR9;E9PRB5;H0Y897;H0YCG4;H0YCP4;H0YDN0;H0YDW0;H0YEA0;H0YEL2;H0YF18;H0YF57;H7C4H3;H7C4N5;H7C4S3;H7C4T1;H7C4X4;H7C524;H7C556;H7C5S3;Q5JPC9;Q7Z7G0 AB056106;ABBA01061780;ABBA01061781;ABBA01061782;ABBA01061783;ABBA01061784;ABBA01061785;ABBA01061786;AC068763;AC069223;AC080014;AC093009;AC106721;AK025204;AK093861;AK123737;AK123748;AK299938;AL117664;AL162038;AL833204;AMYH01013358;AMYH01013359;BC030221;BX648726;CH471052;DA342832;NM_015429 AAH30221;ACE86781;ACE87467;BAB15083;BAB32867;BAC85685;BAC85687;BAG52776;BAG61771;CAB56034;CAI46190;EAW79804;EAW79805;EAW79806;EAW79807;EAW79808;EAW79809;EAW79810;EAW79811;NP_056244;Q7Z7G0 Hs.477015 1654748;1659349;1704584;1715791;1750157;2109921;2118113;2146011;2166971;2175154;5022200;5037552;5094430 D3S3966;D3S4006;D8S2279;G54792;L18426;RH119344;SHGC-112259;SHGC-36323;SHGC-57683;SHGC-77160;SHGC-77161;SHGC-83101;TARSH_9425 FLJ41743;FLJ41754;NESHBP;TARSH ABI gene family member 3-binding protein;ABI gene family, member 3 (NESH) binding protein;OTTHUMP00000214054;nesh-binding protein;target of Nesh-SH3 protein-coding ENSG00000154175 17265 09380 606279 VALIDATED 1346152 ABLIM1 actin binding LIM protein 1 This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q25 109920119 110173614 - 116180859 116434404 - 116190869 116444414 - 1580863;6480464 9245787;16189514;17081983;16094384;15592455;15570572;15489334;15324660;15302935;15144186;15024025;14702039;12477932;12168954;9417918;8889548;7584044;7566098;15778465;16385451;20936779;20970119;16712791;20549515;21832049;21139048;21547531;22219177;17194709;17979178;23000965;23251661 3983 B3KSG3;B3KVH2;F6XFR5;F8W8M4;H0Y3K7;H0Y7N6;J3QSX6;Q5JVV3;Q5T6N2;Q5T6N4;Q5T6N5 AA314019;ABBA01062975;ABBA01062976;ABBA01062977;ABBA01062978;AF005654;AI680726;AK054890;AK057834;AK058007;AK093471;AK098277;AK122891;AK297344;AK298709;AL133384;AL354873;AL590109;AL600892;AL710059;AL712271;AMYH01003089;AW627433;BC002448;BE395092;BE672277;BG426037;BQ721521;CA450184;CB128609;CD558045;CH471066;CR749819;D31883;NG_029872;NM_001003407;NM_001003408;NM_002313;NM_006720 AAC51676;AAH02448;BAA06681;BAG52725;BAG53605;BAG53784;BAG60865;BAH12557;CAH18679;EAW49467;EAW49468;EAW49469;NP_001003407;NP_001003408;NP_002304;NP_006711;O14639 Hs.438236;Hs.538331;Hs.593868 1337480;1657654;1660875;1666337;1670114;1678619;1715633;1724745;1736016;1762207;1762883;1772270;2132510;2143472;2181155;2181157;5015961 D10S1158;D10S1298E;D10S1336E;D10S2292;D15S1477;G15970;RH119261;RH122579;RH25292;RH44627;RH66528;RH91180;SGC30280;SHGC-146082;SHGC-146643;SHGC-35224;SHGC-53066 ABLIM;DKFZp781D0148;FLJ14564;KIAA0059;LIMAB1;LIMATIN;MGC1224;abLIM-1 LIM actin-binding protein 1;OTTHUMP00000020530;OTTHUMP00000020531;OTTHUMP00000020532;OTTHUMP00000020533;OTTHUMP00000020534;OTTHUMP00000020535;OTTHUMP00000020536;OTTHUMP00000020537;abLIM-1;actin-binding LIM protein 1;actin-binding LIM protein family member 1;actin-binding double zinc finger protein;actin-binding double-zinc-finger protein APPROVED protein-coding ENSG00000099204 78 03819 602330 REVIEWED 1349528 ABLIM2 actin binding LIM protein family, member 2 4 4 4 p16.1 7868198 8052469 - 8017938 8211459 - 7967037 8160559 - 6480464 17194709;16005990;15489334;14702039;12477932;11347906;10737800;9847074;8889548;20379614;18029348;20936779 84448 D6RAL0;F5GYR0;F5GZL6;F8W6D8;Q8N9G2 AB058711;ABBA01008684;ABBA01008685;ABBA01008686;ABBA01008687;ABBA01008688;AC097381;AC104650;AC114807;AJ748600;AJ748601;AK094754;AK094798;AK097003;AK130044;AK301060;AL834195;AMYH01013927;AMYH01013928;BC067214;BC122567;BE155865;BM718728;BQ005420;BQ267829;CH471131;DB499366;DB570494;DQ413176;DQ413177;NM_001130083;NM_001130084;NM_001130085;NM_001130086;NM_001130087;NM_001130088;NM_032432 AAH67214;AAI22568;AAY40931;ABD83329;ABD83330;BAB47437;BAC04414;BAC04427;BAC85284;BAH13400;CAD38885;CAG38375;CAG38376;EAW82357;EAW82358;NP_001123555;NP_001123556;NP_001123557;NP_001123558;NP_001123559;NP_001123560;NP_115808;Q6H8Q1 Hs.233404 1646720;1663717;1666646;1666648;1676762;1695092;1752597;1756579;1762609;1762807;1765173;1780072;1791994;1851383;2169573;2185501;5037552 D4S1080;D4S2720;D4S658;D8S2279;G31621;PMC134465P1;RH75474;SHGC-106487;SHGC-143614;SHGC-146415;SHGC-146585;SHGC-148684;SHGC-154324;SHGC-24205;SHGC-51226;SHGC-59833;SHGC-67378 DKFZp761F129;FLJ26534;FLJ39684;KIAA1808;MGC141918 OTTHUMP00000217347;OTTHUMP00000217348;OTTHUMP00000217356;OTTHUMP00000217357;OTTHUMP00000219315;OTTHUMP00000219317;OTTHUMP00000219318;abLIM-2;actin binding LIM protein 2;actin-binding LIM protein 2;actin-binding LIM protein family member 2 protein-coding ENSG00000163995 19195 612544 VALIDATED 5013939 ABT1P1 activator of basal transcription 1 pseudogene 1 4 4 97240941 97241755 - 99943465 99944279 - 100420695 ABBA01063668;AC019131;AMYH01014419;NG_025142 1686608 RH91583 pseudo 39557 INFERRED 1354406 ABLIM3 actin binding LIM protein family, member 3 The LIM domain is a double zinc finger structure that promotes protein-protein interactions. LIM domain proteins, such as ABLIM3, play roles in embryonic development, cell lineage determination, and cancer (Krupp et al., 2006 [PubMed 16328021]).[supplied by OMIM, Mar 2008] 5 5 5 q32 144603161 144721993 + 148501247 148620192 + 148521054 148639999 + 1580863;6480464 17194709;17081983;16381901;16328021;15489336;15489334;15342556;15337165;15221005;12477932;11230166;11076863;10048485;8125298 22885 D6RHE7;O94929 AB020650;AB075881;ABBA01026307;ABBA01026308;ABBA01026309;ABBA01026310;AC012613;AC091940;AK098469;AK225769;AK289736;AL833021;AMYH01015700;BC001665;BC014463;BP285049;CH471062;DQ413174;NM_014945 AAH01665;ABD83327;BAA74866;BAD38663;BAF82425;CAH56270;CAL37473;CAL37581;CAL37722;CAL37724;CAL37743;CAL37768;CAL37808;CAL37810;CAL37841;CAL37876;CAL37977;CAL37979;CAL37994;CAL38031;CAL38039;CAL38101;CAL38162;CAL38196;CAL38279;CAL38283;CAL38290;CAL38300;CAL38309;CAL38401;CAL38431;CAL38436;CAL38440;CAL38531;CAL38534;CAL38558;CAL38598;CAL38631;CAL38632;CAL38668;CAL38695;EAW61788;EAW61789;EAW61790;EAW61791;EAW61792;NP_055760;O94929 Hs.49688 1693820;1714293;1772429;1780606;2123354;2135616;2145385;2218172 ABLIM3__4236;D18S491;D5S1897;G16917;L28244;RH119927;SHGC-56609;bac51369T HMFN1661 OTTHUMP00000160385;OTTHUMP00000223934;OTTHUMP00000223936;OTTHUMP00000223937;OTTHUMP00000223938;abLIM-3;actin-binding LIM protein 3;actin-binding LIM protein family member 3 APPROVED protein-coding ENSG00000173210 29132 12411 611305 VALIDATED 730884 ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q34.2 135120384 135140451 - 136130563 136150630 - 1580863;2317512;2317510;5128834;2317511;5128835;5128831;5128832;5128833;5128836;6480464;6907045 7795450;20181960;2142987;20103627;19771478;16008680;15784866;9036208;6189297 19278955;19276450;19169360;19078892;19054377;18940312;18712158;18680548;18651204;18604267;18600088;18521502;18464913;18426679;18387978;18273824;18247104;18215251;18173836;18156754;18078207;18067502;18067076;18063521;18028481;18027815;18003641;17994314;17764507;17642512;17531777;17393014;17311872;17298125;17259183;17209060;17140342;17130965;17119126;17107352;17076855;17036929;17002642;16956829;16871363;16859949;16722361;16686845;16631357;16403294;16239542;16215642;16181218;16176058;16081582;15987364;15880137;15847653;15819691;15819453;15783300;15754970;15751650;15735796;15648786;15606555;15300625;15166945;15104652;15009807;14979340;14750174;14617382;14569463;14516453;12829588;12786998;12760254;12673421;12587416;12560669;12529355;12519432;12477932;12198488;12151392;11998221;11961233;11939260;11856466;11520811;11436564;11398963;11345596;11061869;10666229;10462501;9800297;9325321;9175793;8928487;8873422;8839869;8641696;8484250;8456556;7779106;7772867;7598760;7488159;6770676;5442829;4831233;4831223;2333095;2121736;2104828;2104827;1520322;1449469;1429528;618875;184030;22895189;16686846;21070754;21502573;21533024;21306478;19110300;19470260;19474452;19490215;19648918;19729612;20003128;20017223;20066004;20147318;20167578;20231535;20371059;20373852;20459687;20514537;20529992;20456702;20576794;20197725;19913121;20154292;20532885;20628086;20648472;20666915;20677133;20971884;20703243;21239051;21378990;21144789;21560847;22664149;22642827;22258027;23381943;22963146;21729554;22010135;22125638;20686565;21841780;21886157;21909109;21980494;22001757;22291609;22387998;22672568;22703881;23300549;23382263;23056639;23222517;23251661;23300138;23408906;23319424;23267103 28 Q99484;Q9UQ67 AB052641;AB052642;AB052643;AB052644;AB052650;AB052651;AB180254;AB180256;AB180257;AB180258;AB180259;AB180260;AB180261;AB180262;AB180263;AB180264;AB180265;AB180266;AB180267;AB180268;ABBA01032466;AC000397;AF006673;AF016622;AF016624;AF016625;AF062486;AF062487;AF134412;AF134413;AF134414;AF134415;AF134416;AF170888;AF170889;AF170890;AF170892;AF170893;AF324006;AF324007;AF324008;AF324009;AF324010;AF324011;AF324012;AF324013;AF324014;AF324015;AF324016;AF324017;AF324018;AF324019;AF324020;AF408431;AF448199;AF448200;AJ276686;AJ276687;AJ276688;AJ276689;AJ426048;AJ426063;AJ426064;AJ536122;AJ536123;AJ536124;AJ536125;AJ536126;AJ536127;AJ536128;AJ536129;AJ536130;AJ536131;AJ536132;AJ536134;AJ536135;AJ536136;AJ536137;AJ536138;AJ536139;AJ536148;AJ536150;AJ536152;AJ536153;AJ920329;AJ973608;AK302203;AL158826;AL732364;AL772161;AM040939;AM231715;AM423110;AM492698;AMYH01021799;AV761252;AY268591;AY336599;AY373436;AY377125;AY442168;AY510089;AY512679;AY513233;AY579471;AY590127;AY611640;AY611641;AY727862;AY805749;AY805750;BC069595;BC069605;BC069814;BC111575;CH471090;D82835;D82836;D82837;D82838;D82839;D82840;D82841;D82842;D82843;D82844;D82845;DQ092379;DQ092380;DQ092381;DQ100313;DQ124678;DQ124679;DQ139865;DQ321372;DQ321373;DQ323500;DQ323501;DQ323502;DQ323503;DQ407740;EU366315;FJ599810;FJ851691;FJ851692;FR691751;FR691752;GU169167;GU169168;GU169169;GU169170;GU169171;GU169172;GU169173;GU199604;GU199605;GU592505;GU592506;GU592507;J05175;JN791441;JX398330;JX398331;JX398332;JX398333;JX519569;JX519570;NG_006669;NM_020469;S44054;U15197;U15198;U22302;X84746 AAA36792;AAB23167;AAB69195;AAB86462;AAB86464;AAB86465;AAC13777;AAC50121;AAC99327;AAC99328;AAD14781;AAD26572;AAD26573;AAD26574;AAD51648;AAD51649;AAD51650;AAD51651;AAD51652;AAH69595;AAH69814;AAI11576;AAL37338;AAL37339;AAL37340;AAL37341;AAL37342;AAL37343;AAL37344;AAL37345;AAL37346;AAL37347;AAL37348;AAL37349;AAL37350;AAL37351;AAL37352;AAN02512;AAP03430;AAP97075;AAQ04662;AAQ04663;AAR20996;AAR24575;AAR97889;AAR98522;AAS00500;AAS16482;AAT01605;AAT90439;AAU93390;AAW31606;AAW31607;AAX39008;AAX39009;AAY98421;AAY98422;AAY98423;AAZ28944;AAZ32763;AAZ32764;AAZ67147;ABC41115;ABC41116;ABC41117;ABC41118;ABC59309;ABC59310;ABD66591;ABY67384;ACN23166;ACP27632;ACP27633;ADP08988;ADP08989;ADP08990;ADP08991;ADP08992;ADP08993;ADP08994;ADP08995;ADP08996;ADP08997;ADP08998;ADP08999;AER42120;AFS31344;AFS31345;AFS31346;AFS31347;AFV30234;AFV30235;BAA11584;BAA11585;BAA11586;BAA11587;BAA11588;BAA11589;BAA11590;BAA11591;BAA11592;BAA11593;BAA11594;BAB32654;BAB32655;BAB32656;BAB32657;BAB32658;BAB32659;BAD20714;BAD20715;BAD20716;BAD20717;BAD20718;BAD20719;BAD20720;BAD20721;BAD20722;BAD20723;BAD20724;BAD20725;BAD20726;BAD20727;BAG63563;CAA59233;CAB81776;CAB81777;CAB81778;CAB81779;CAD19818;CAD19819;CAD22451;CAD60209;CAD60210;CAD60211;CAD60212;CAD60213;CAD60214;CAD60215;CAD60216;CAD60217;CAD60218;CAD60219;CAD60221;CAD60222;CAD60223;CAD60224;CAD60225;CAD60226;CAD60235;CAD60237;CAD60239;CAD60240;CAI79116;CAJ00555;CAJ13827;CAJ77763;CAM28424;CAM34526;CBX20982;CBX20983;EAW88054;NP_065202;P16442 Hs.654423 1741857;1744687;1745665;1793896;1793898;1793900;1793902 GDB:186120;GDB:551069;GDB:631751;PMC305365P1;PMC305365P2;PMC305365P3;PMC305365P4 A3GALNT;A3GALT1;GTB;NAGAT ABO A3 transferase;ABO glycosyltransferase;ABO weak transfer;B(A) alpha-1,3-galactosyltransferase;fucosylglycoprotein 3-alpha-galactosyltransferase;fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase;glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase;glycoprotein-fucosylgalactoside alpha-galactosyltransferase;histo-blood group A transferase;histo-blood group A2 transferase;histo-blood group ABO system transferase;histo-blood group B transferase APPROVED protein-coding 79 05821 110300 REVIEWED 1603582 ABRA actin-binding Rho activating protein 8 8 8 q23.1 103958692 103969453 - 107842321 107851649 - 107771711 107782472 - 6480464 21486805;11256614;19255118;17415416;16381901;15798203;15489336;15489334;14702039;12477932;11983702;11230166;11076863;17194709;23259602 137735 Q8N0Z2 ABBA01037690;AC023344;AF503617;AK092694;AL832152;AL833422;AMYH01018952;BC105103;BC105105;CH471060;NM_139166 AAI05104;AAI05106;AAM27268;BAC03948;CAL37941;EAW91907;NP_631905;Q8N0Z2 Hs.374668 STARS OTTHUMP00000227583;actin-binding Rho-activating protein;striated muscle activator of Rho-dependent signaling protein-coding ENSG00000174429 30655 11608 609747 VALIDATED 1351168 ABRACL ABRA C-terminal like 6 6 6 q24.1 140089868 140104496 + 139391512 139406132 + 139349819 139364439 + 6480464 15489334;12665801;12477932;11042152;15723814;21082705;21139048;20940261 58527 Q5SZC9;Q9P1F3 ABBA01025801;ABBA01025802;AF116682;AF161398;AL590308;AMYH01016706;BC014953;BG563686;CH471051;NM_021243 AAF28958;AAF71102;AAH14953;EAW47902;NP_067066;Q9P1F3 Hs.600861 C6orf115;Costars;HSPC280;PRO2013;RP11-501K14.2 ABRA C-terminal-like protein;OTTHUMP00000017303;costars family protein ABRACL;costars family protein C6orf115;hypothetical protein LOC58527 APPROVED protein-coding ENSG00000146386 21230 VALIDATED 1314808 ABR active BCR-related This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] 17 17 p13.3 853509 1029881 - 906758 1090616 - 1580863;6480464 8262969;17474147;15525470;14702039;12621583;11921339;8889548;8349582;7829075;7479768;2587217;22889411;16712791;11756498;12376548;12477932;12787561;20379614;16341674;21832049;22990118;16344560 29 B7Z2X0;B7Z683;B7Z7Z1;I3L0R7;I3L1U8;I3L259;I3L2C0;I3L2L3;I3L2P5;I3L379;I3L3W0;I3L434;I3L4Y1;I3NI05;Q13694;Q6ZT60 ABBA01054630;ABBA01054631;ABBA01054632;ABBA01054633;ABBA01054634;ABBA01054635;ABBA01054636;ABBA01054637;ABBA01054638;ABBA01054639;AC015884;AC016292;AI763107;AK094544;AK124547;AK126882;AK127851;AK295191;AK299909;AK300336;AK302682;AK307827;AL135250;AMYH01007983;AMYH01007984;AMYH01007985;AMYH01007986;AMYH01007987;AMYH01007988;BC036807;BC141909;BM827672;CB153196;CF135918;CH471108;DA106008;DA327723;DC308495;DC325032;DR003682;L19704;L19705;NG_011987;NM_001092;NM_001159746;NM_001256847;NM_021962;NR_046393;U01147 AAC37518;AAC37519;AAC50063;AAI56484;AAI72517;BAC86734;BAG54051;BAH12006;BAH13169;BAH13263;BAH13777;EAW90631;EAW90632;EAW90633;EAW90634;EAW90635;NP_001083;NP_001153218;NP_001243776;NP_068781;Q12979 Hs.159306 1336110;1339353;1339519;1689388;1710988;1734490;1744497;1758277;1758645;1783542;2128331;2145023;2169976 D17S1444E;D17S1529;D17S1840;D17S596;G11811;GDB:461131;RH46166;RH66671;SHGC-147890;SHGC-149018;SHGC-153854;SHGC-84866;WI-19743 FLJ45954;MDB OTTHUMP00000115362;active breakpoint cluster region-related protein APPROVED protein-coding ENSG00000159842 81 02649 600365 REVIEWED 1321888 ABT1 activator of basal transcription 1 Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 27826511 27829609 + 26705159 26708257 + 26597171 26600278 + 1580863;6480464 15489334;14574404;12477932;11790298;10648625;15635413;21145461;18482256;19299493;23080069;21139048;21890473 29777 Q9ULW3 AB027258;ABBA01066559;AL513548;AMYH01016163;BC048812;BC066313;CH471087;CS300635;NM_013375 AAH48812;AAH66313;ABZ92324;BAA86886;CAK32299;EAW55591;EAW55592;EAW55593;NP_037507;Q9ULW3 Hs.254406 1668488;1679579;1686608;2109021;2128323 ABT1_3579;RH80034;RH91583;SHGC-52907;SHGC-64311 hABT1 OTTHUMP00000017935;TATA-binding protein-binding protein;activator of basal transcription 1;basal transcriptional activator APPROVED protein-coding ENSG00000146109 17369 16469 REVIEWED 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 11 11 11 p13 34320078 34526769 - 34129111 34335378 - 34172534 34379555 - 1580863;6480464 18429817;15489334;14702039;12477932;18459963;21145461;20379614;21906983 25841 Q8N961 ABBA01060867;ABBA01060868;ABBA01060869;ABBA01060870;ABBA01060871;ABBA01060872;ABBA01060873;ABBA01060874;AC090469;AK056863;AK091560;AK095632;AK291744;AL035079;AL050374;AL133294;AL139174;AMYH01003486;AMYH01003487;AMYH01003488;BC093968;BX640841;CH471064;NM_145804 AAH93968;BAC03697;BAC04595;BAF84433;BAG51818;CAE45913;EAW68172;EAW68173;NP_665803;Q8N961 Hs.23361 1683421;1690678;1713739;1737737;2122742;2218718;7184001 ABTB2__4237;D11S3333;D11S4537;RH120755;RH92826;RH93895 BTBD22;DKFZp586C1619 OTTHUMP00000232337;ankyrin repeat and BTB/POZ domain-containing protein 2 protein-coding ENSG00000166016 23842 10624 VALIDATED 1349137 ABTB1 ankyrin repeat and BTB (POZ) domain containing 1 This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q21 125818638 125826632 + 128874471 128882453 + 127391781 127399769 + 1580863;6480464 18459963;18429817;15498874;15489334;15231748;14702039;12477932;11494141;10891360;21145461;8889548;18029348;19930467 80325 F2Z3F5;H7C4W8;Q969K4 AB053324;AB053325;AB053326;ABBA01020884;AC023593;AF297986;AF447886;AI337369;AK090422;AK090509;AK098738;AK130594;AK315148;AMYH01013457;BC011858;BF664138;BM671027;CH471052;NG_029479;NM_032548;NM_172027;NR_033429 AAH11858;AAK57478;AAQ04661;BAB55648;BAB55649;BAB55650;BAC03403;BAC85392;BAG37596;EAW79333;EAW79334;EAW79335;EAW79336;NP_115937;NP_742024;Q969K4 Hs.107812 1734266;1740263;2126622;2160014 D3S1645;D3S2755E;SHGC-77302;WI-13950 BPOZ;BTBD21;Btb3;EF1ABP;MGC20585;PP2259 OTTHUMP00000216041;OTTHUMP00000216042;OTTHUMP00000216044;ankyrin repeat and BTB/POZ domain-containing protein 1;elongation factor 1A binding protein;elongation factor 1A-binding protein APPROVED protein-coding ENSG00000114626 18275 10513 608308 REVIEWED 69012 ACAA1 acetyl-CoA acyltransferase 1 This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 3 3 p22.2 38139211 38153619 - 38164201 38178733 - 1300048;1580863;2313044;6480464;6907045 17632588 18281296;1679347;18029348;16385653;15489334;14621081;12477932;11418601;10960480;10231028;9110174;8619474;7750978;3194209;2882519;2726492;2630187;16756494;19423540;20406964;20438785;19913121;20628086;20877624;21048031;22939629;1347505;2318981;2365812;9427644;21890473;22151743;9053548 30 B4DVF4;B4E072;C9JDE9;F2Z2Q6;F2Z3P7;H0Y4D4;H7C131;P09110 ABBA01024827;AF035295;AK025138;AK127051;AK293716;AK301056;AK303251;AK316551;AMYH01013089;AP006309;BC000635;BC011977;BC014474;BC025780;BC039837;CH471055;DC312566;DC379687;NG_023225;NM_001130410;NM_001607;NR_024024;X12966;X14813;X51460;X65140;X65148 AAB88181;AAH00635;AAH11977;AAH14474;ABM82224;ABM84272;ABM85408;BAG57147;BAG62666;BAG64334;BAG65629;CAA31412;CAA32918;CAA35825;CAA46270;CAA46271;EAW64513;EAW64514;EAW64515;EAW64516;EAW64517;EAW64518;NP_001123882;NP_001598;P09110 Hs.643487 1712280;1741417;1768515;2106943;2136642;2141163;2185730;2186027;5020948;5109281 ACAA1_2845.2;D1S1425;D3S3102;D3S3932;D3S4185;G35510;G54049;GDB:181192;STS-X14813;WI-19140 ACAA;PTHIO;THIO 3-ketoacyl-CoA thiolase, peroxisomal;OTTHUMP00000209029;OTTHUMP00000209180;OTTHUMP00000209182;OTTHUMP00000209821;OTTHUMP00000209822;acetyl-Coenzyme A acyltransferase 1;beta-ketothiolase;peroxisomal 3-oxoacyl-CoA thiolase;peroxisomal 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding ENSG00000060971 82 06815 604054 REVIEWED 731908 ACACB acetyl-CoA carboxylase beta Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008] 12 12 q24.11 108061585 108190414 + 109577202 109706031 + 1304207;1580863;1300333;1625727;1300239;1300048;6480464;6907045 8670171;734875;16485039;704405 19190759;19034549;18996102;18455495;18031993;17521700;17223360;16854592;15590647;14627750;12477932;12413941;12086953;10677481;9284908;9099716;8876158;16054041;18029348;15060529;19390150;14532170;14613924;16794074;19618481;19846279;19900410;20168990;20379614;20468064;20519229;9148944;11257506;20139635;20514549;20599696;20602615;20799892;20855566;20877624;20965718;23156397;21887335;20085763;21953464;21908218;21139048;21906983;21553357;19322201;22318606;18976975;19720090;21344388 32 E9PEW7;F5H3T2;F5H5C3;F5H8F2;F6QQI9;F8W8T8;H0YGH5;O00763 AB209110;ABBA01005065;ABBA01005066;AC007637;AJ575431;AJ575592;AK302469;AK302502;AK307466;AMYH01004735;AY382667;BC009753;BC028417;CB269093;CB269579;CH471054;DB567934;DQ493870;NM_001093;R99037;U34591;U89344 AAB58382;AAC50571;AAH28417;AAI72264;AAI72569;AAR37018;ABF48723;BAD92347;BAG63759;BAG63782;CAE01470;CAE01471;EAW97852;EAW97853;EAW97854;EAW97855;NP_001084;O00763 Hs.234898 1667981;1684780;1769350;2114370;2156752 D12S1204E;D12S1876;RH92633;SGC32926;STS-N32504 ACC2;ACCB;HACC275 ACC-beta;OTTHUMP00000240532;acetyl-CoA carboxylase 2;acetyl-Coenzyme A carboxylase beta 1643258;1643266;1643270;1643277;2289628;2289630;2289632 BW198_H;BW201_H;BW203_H;BW205_H;BW500_H;BW501_H;BW502_H APPROVED protein-coding ENSG00000076555 85 07044 601557 REVIEWED 733990 ACAA2 acetyl-CoA acyltransferase 2 The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 44166539 44196918 - 45563873 45593900 - 47309874 47340251 - 1580863;2317624;6480464;6907045 11879205 8241273;18371312;18193044;15489334;15242332;14702039;12477932;10856712;8125298;20571754;20679960;20877624;20972250;22863883;21832049;22939629;21139048 10449 B3KNP8;K7EJ68;K7EJB1;K7EME0;K7ER88;P42765 ABBA01018664;ABBA01018665;AC090227;AK054673;AK093311;AK225457;AK314462;AMYH01008992;AMYH01008993;BC001918;CH471096;D16294;NM_006111 AAH01918;ABM84302;ABM87696;BAA03800;BAG37070;BAG51410;EAW62950;EAW62951;EAW62952;EAW62953;EAW62954;EAW62955;EAW62956;NP_006102;P42765 Hs.200136 1679928;1754075;1775030;2131314;2136939;2147243;2154532;5017639 ACAA2;D18S1356;G35281;RH39218;SGC30718;SHGC-12898;SHGC-132113;SHGC-57883 DSAEC;FLJ35992;FLJ95265 3-ketoacyl-CoA thiolase, mitochondrial;OTTHUMP00000163502;T1;acetyl-Coenzyme A acyltransferase 2;beta ketothiolase;beta-ketothiolase;mitochondrial 3-oxoacyl-CoA thiolase;mitochondrial 3-oxoacyl-Coenzyme A thiolase APPROVED protein-coding ENSG00000167315 83 10380 604770 REVIEWED 736015 ACACA acetyl-CoA carboxylase alpha Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21 32516040 32841015 - 35441927 35766902 - 1580863;1300332;1625727;1300238;1300048;2317316;2317309;6480464;6907045;7240710 734871;16485039;704404;11735100;17882277 20431927;7905825;16326698;19061860;18996102;18660489;18614968;18614941;18487259;18455495;18452305;18056116;18031993;17631500;17521700;17372234;17081983;16713569;16698035;15607423;15333468;15302935;14643797;12810950;12477932;12360400;11052978;10737800;10677481;7915280;7907095;20562859;7732023;2906852;2900140;2900138;16169070;18678647;8944226;16794074;19343720;19543203;19710915;19723093;19846279;20379614;20139635;21471234;20457939;19913121;20602615;20628086;20877624;20965718;19842072;22863883;23455922;23535730;18303054;23181366;23383273;21638027;16806233;22939629;21726077;22238651;17620599;22318606;22586326;19738201;21642987;23000302;21139048;21890473;21906983;19380743;19720090;21344388;22505724 31 A8MYL5;B2ZZ90;D3YTK0;K4DID9;K7EII5;K7EJ22;K7EK64;K7EMF7;K7EPF1;Q59FY4;Q7Z5W8;Q86WB2 AB209325;AB371587;ABBA01001371;ABBA01001372;ABBA01001373;ABBA01001374;ABBA01001375;ABBA01001376;ABBA01001377;ABBA01012436;ABBA01012437;ABBA01012438;ABBA01012439;ABBA01012440;ABBA01012441;ABBA01012442;AC003103;AC016482;AC068400;AJ534888;AJ534889;AJ564444;AK129523;AK295586;AK295735;AK295805;AK296368;AK301579;AK308905;AK309084;AK309424;AK311329;AMYH01008361;AY237919;AY315616;AY315617;AY315618;AY315619;AY315620;AY315621;AY315622;AY315623;AY315624;AY315625;AY315626;AY315627;BC031485;BC041598;BC137287;BF154865;CF454424;CH471199;NG_023295;NM_198834;NM_198836;NM_198837;NM_198838;NM_198839;U19822 AAC50139;AAH31485;AAI37288;AAP69841;AAP94113;AAP94114;AAP94115;AAP94116;AAP94117;AAP94118;AAP94119;AAP94120;AAP94121;AAP94122;BAD92562;BAG48316;BAG58478;BAG58574;BAG58623;BAG59043;BAG63071;CAD59556;CAD59557;CAD92089;EAW57576;EAW57577;EAW57578;EAW57579;EAW57580;EAW57581;EAW57582;EAW57583;NP_942131;NP_942133;NP_942134;NP_942135;NP_942136;Q13085 Hs.160556 1656653;1668802;1672259;1680385;1705774;1722145;1728739;1731417;1733378;1736696;1751813;1752911;1771596;1772194;1858503;2107809;2111366;2119838;2135250;2160287;2162425;2162427;5093206 A001W36;A009J24;ACACA_8187;Cda0ce05;D17S107;D17S1255;D17S1354E;D17S1515E;D17S2161;D19S1171;G09844;G19724;G32583;G54157;G60122;RH17508;RH98496;SHGC-105835;SHGC-106779;SHGC-31900;SHGC-78675;WI-11525;WI-14928 ACAC;ACACAD;ACC;ACC1;ACCA ACC-alpha;OTTHUMP00000164069;OTTHUMP00000164070;OTTHUMP00000164076;acetyl-CoA carboxylase 1;acetyl-CoA carboxylase-alpha;acetyl-Coenzyme A carboxylase alpha APPROVED protein-coding ENSG00000132142 84 01938 200350;613933 REVIEWED 1346668 ACAD10 acyl-CoA dehydrogenase family, member 10 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008] 12 12 12 q24.12 111749322 111820374 + 110608285 110679284 + 112123857 112194911 + 6480464 18950845;16344560;15560374;15197164;14702039;12477932;20379614;20390405;20877624;21642993;21237683;21832049;21906983;22423221;23364394 80724 D6RFF6;F8VW35;F8VWG8;F8VXK4;F8VZG7;F8W0Q4;F8W179;F8W1A9;F8W1I9;Q6JQN1 ABBA01019902;ABBA01019903;ABBA01019904;ABBA01019905;ABBA01019906;AC002996;AK092356;AK097425;AK310923;AL832043;AMYH01004752;AY323912;BC003698;BC015056;BC054886;BC126358;CA419108;CF272632;CH471054;DA146693;NM_001136538;NM_025247 AAH15056;AAI26359;AAQ88260;BAC03869;BAC05046;EAW97961;EAW97962;EAW97963;EAW97964;EAW97965;EAW97966;EAW97967;EAW97968;EAW97969;EAW97970;EAW97971;NP_001130010;NP_079523;Q6JQN1 Hs.331141 1670033;1671683;2146077 A004F15;STS-H17854;WI-14804 MGC5601 ACAD-10;OTTHUMP00000221787;OTTHUMP00000221788;OTTHUMP00000241651;acyl-CoA dehydrogenase family member 10;acyl-Coenzyme A dehydrogenase family, member 10 APPROVED protein-coding ENSG00000111271 21597 10625 611181 REVIEWED 1604580 ACAD11 acyl-CoA dehydrogenase family, member 11 3 3 3 q22.1 130703259 130804468 - 133759672 133861665 - 132276982 132378975 - 6480464 14561759;16344560;15489334;14702039;12477932;12056414;19423540;20237496;20406964;20438785;20877624;21237683;21832049;21903422 84129 D6RDI8;F8WEV0;H0Y9C6;Q08AE9;Q709F0 ABBA01059180;ABBA01059181;ABBA01059182;ABBA01059183;ABBA01059184;ABBA01059185;AC020632;AI091999;AJ608287;AK022654;AK131265;AK298627;AK308380;AL832873;AL833721;AMYH01013502;AX803783;AX803785;BC019607;BC125204;BC125205;CH471052;DA804241;HH961824;NM_032169 AAH19607;AAI25205;AAI25206;BAB14158;BAD18443;BAG60803;CAE55233;CAE75545;CAE75546;CAH56228;CAH56354;CBX51385;EAW79193;EAW79194;EAW79195;NP_115545;Q709F0 Hs.170737;Hs.441378 1751113;1797360;2180746 CCRL1_2475;SHGC-105034;SHGC-77360 ACAD-11;FLJ12592;MGC150619 62113 protein;ACAD-11;OTTHUMP00000216473;acyl-CoA dehydrogenase family member 11;acyl-Coenzyme A dehydrogenase family, member 11;putative acyl-CoA dehydrogenase APPROVED protein-coding ENSG00000240303 30211 13352 614288 VALIDATED 733759 ACADL acyl-CoA dehydrogenase, long chain The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008] 2 2 q34 210760959 210798392 - 211052714 211090215 - 1304195;1580863;704409;1300048;2317678;2317589;6480464 1774065;11125071;3968063;14728676 1945557;18660489;12477932;10832093;9714723;9003458;8739959;4022672;2000272;1607358;1559716;1438359;18029348;20037589;19913121;20628086;20363655;20877624;23106098;17500595;22118674;23281178 33 P28330 ABBA01062734;AC006994;AK296161;AK313498;AMYH01011462;BC039063;BC064549;CH471063;DC350098;M74096;NG_008002;NM_001608 AAA51565;AAH39063;AAH64549;AAY14881;ABM81711;ABM84867;BAG36280;BAG58900;EAW70481;NP_001599;P28330 Hs.471277 1662038;1665787;1677044;1693682;1711438;1795282;2183360 ACADL;ACADL_199;D2S1847;RH69173;RH80284;SHGC-36221;SHGC-58606 ACAD4;FLJ94052;LCAD OTTHUMP00000163937;acetyl-coenzyme a dehydrogenase, long-chain;acyl-Coenzyme A dehydrogenase, long chain;long-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000115361 88 01939 609576 REVIEWED 1344764 ACAD8 acyl-CoA dehydrogenase family, member 8 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009] 11 11 11 q25 131296297 131308612 + 133628644 133640959 + 134123434 134135749 + 1580863;6480464;6907045;7240710 10524212;15489334;14752098;14702039;12477932;12359132;11013134;10235267;17387528;16806233;20877624;23080069;20360068;23251661 27034 B7Z5W4;B7Z7F1;E9PKP9;E9PLS3;H0YDR9;Q6ZWP6;Q9UKU7 AB209538;ABBA01031114;AF126245;AF260689;AK000359;AK026243;AK074640;AK125373;AK299492;AK299795;AK301921;AK303569;AK309051;AK309838;AMYH01004146;AP000859;BC001964;BI549961;CH471065;NG_015842;NM_014384 AAF12736;AAF97922;AAH01964;ABM82019;ABM85201;BAA91109;BAC11107;BAC86149;BAD92775;BAH13050;BAH13130;BAH13587;BAH13987;EAW67833;EAW67834;EAW67835;NP_055199;Q9UKU7 Hs.14791 1671077;2181534;2183571;5016236 RH11494;SGC32153;SGC32443;STS-N26556 ACAD-8;ARC42;FLJ22590 OTTHUMP00000235422;OTTHUMP00000235425;activator-recruited cofactor 42 kDa component;acyl-Coenzyme A dehydrogenase family, member 8;isobutyryl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000151498 87 11985 604773;611283 REVIEWED 1348095 ACAD9 acyl-CoA dehydrogenase family, member 9 This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 3 3 q21.3 130081144 130114647 + 128598333 128631957 + 1580863;2317589;6480464;7240710 14728676 17672918;18385088;17564966;16750164;16344560;16020546;15489334;14702039;12971426;12477932;12359260;22939629;20929961;20877624;21057504;11256614;19615732;20816094;20186120;19805454;21139048;22277967;23064961 28976 D6R9Z3;D6RCD8;D6RDK9;D6RGK6;D6RJA8;H0Y8Z9;Q9H845 AB209427;ABBA01020915;ABBA01020916;ABBA01020917;AC112484;AF078854;AF327351;AK022568;AK024012;AK027186;AK130311;AK294597;AK297952;AK310644;AMYH01013468;BC001817;BC007970;BC013354;BC041572;CH471052;DA630022;NG_017064;NM_014049;NR_033426 AAD44486;AAH01817;AAH07970;AAH13354;AAL56011;ABM84442;ABM87494;BAB14104;BAB14775;BAD92664;BAG57785;BAG60267;EAW79293;EAW79294;EAW79295;EAW79296;NP_054768;Q9H845 Hs.567482 1733830;1749437;1797258;2152943;5015961;5022322;5037552;7184418 ACAD9_1898;D11S2560;D15S1477;D3S1498;D8S2279;SHGC-111168;STS-AA024661 ACAD-9;FLJ23533;MGC14452;NPD002 OTTHUMP00000217095;OTTHUMP00000217099;acyl-CoA dehydrogenase family member 9, mitochondrial;acyl-Coenzyme A dehydrogenase family, member 9;very-long-chain acyl-CoA dehydrogenase VLCAD APPROVED protein-coding ENSG00000177646 21497 12412 611103;611126 REVIEWED 732202 ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. [provided by RefSeq, Jul 2008] 12 12 q24.31 119648050 119662193 + 121163571 121177811 + 1580863;1300335;1300239;1300048;2317678;2317589;6480464;6907045;7240710 734878;704405;3968063;14728676 20843780;8276399;16729965;18977676;18539996;18523805;18184946;18175080;18054510;18045290;16376132;15902559;15489334;12706374;12477932;12220177;11134486;9499414;9383286;8889548;8503850;2565344;1692038;1286669;19470168;20037589;20180986;20376488;20371198;19913121;20554694;20628086;20877624;21211036;21968293;22004070;21938826;21886157;21988832 35 E5KSD5;E9PE82;P16219 AB527081;ABBA01020134;ABBA01020135;AC069234;AK300645;AMYH01004804;BC025963;BU682624;CH471054;DB487184;HQ205946;HQ205947;HQ205948;HQ205949;HQ205950;HQ205951;HQ205952;HQ205953;HQ205954;HQ205955;HQ205956;HQ205957;HQ205959;HQ205960;HQ205961;HQ205962;HQ205963;HQ205964;HQ205965;HQ205966;HQ205967;HQ205968;HQ205970;HQ205971;HQ205972;HQ205973;HQ205974;HQ205975;HQ205976;HQ205977;HQ205978;HQ205979;HQ205980;HQ205981;HQ205983;HQ205984;M26393;NG_007991;NM_000017;U83992;Z80345;Z80347 AAA60307;AAD00552;AAH25963;ABM83110;ABM86304;ADP91814;ADP91815;ADP91816;ADP91817;ADP91818;ADP91819;ADP91820;ADP91821;ADP91822;ADP91823;ADP91824;ADP91825;ADP91827;ADP91828;ADP91829;ADP91830;ADP91831;ADP91832;ADP91833;ADP91834;ADP91835;ADP91836;ADP91838;ADP91839;ADP91840;ADP91841;ADP91842;ADP91843;ADP91844;ADP91845;ADP91846;ADP91847;ADP91848;ADP91849;ADP91851;ADP91852;BAG62333;BAJ05798;CAB02492;EAW98218;NP_000008;P16219 Hs.507076 1681442 RH75794 ACAD3;SCAD OTTHUMP00000240402;OTTHUMP00000240403;acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain;butyryl-CoA dehydrogenase;mitochondrial short-chain specific acyl-CoA dehydrogenase;short chain acyl-coenzyme a dehydrogenase;short-chain acyl-CoA dehydrogenase;short-chain specific acyl-CoA dehydrogenase, mitochondrial;unsaturated acyl-CoA reductase APPROVED protein-coding ENSG00000122971 90 06053 201470;606885 REVIEWED 735259 ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p31 75962870 76001771 + 76190043 76229355 + 1300334;1580863;704409;1300048;2317678;2317589;6480464;6484113;6907045;7240710 734877;11125071;3968063;14728676 2393404;1731887;19224950;19064330;18927092;18660489;18241067;18188679;17539907;17186412;16917729;16617240;16291504;16236267;16128823;15902558;15896661;15832312;15489334;15171999;14970748;14692513;12914524;12562916;12522104;12477932;11517203;11486912;11409868;11349232;11263545;10767181;9882619;9487154;9484241;9158144;8823176;8198141;7929823;7608198;7603790;6857268;3786030;3597357;3462713;3035565;2394825;2251268;1902818;1729890;1684086;1679031;1671131;1363805;21145461;11256614;16972171;18029348;19551636;19615732;19649258;1970566;20037589;19913121;20434380;20567907;20628086;20877624;21083904;20301597;23028790;21239873;22683754;22863883;15840729;21968293;21139048;21886157;22630369;23141465;22797925 34 B4DJE7;B7Z9I1;E9PIX8;E9PJM9;E9PLN7;E9PQA8;E9PRX4;H0YDT5;P11310;Q5T4U5 ABBA01074416;ABBA01074417;ABBA01074418;AF251043;AK296045;AK301005;AK301039;AK301717;AK309843;AK311022;AK311185;AK312629;AK315946;AL357314;AMYH01000713;BC005377;BI789086;BX647734;CH471059;DB453314;DB537134;M16827;M60505;M91432;NG_007045;NM_000016;NM_001127328;U33947 AAA51566;AAA59567;AAB59625;AAF63626;AAH05377;ABM83267;ABM86636;BAG35514;BAG58809;BAG62623;BAG62652;BAG63188;BAH14317;CAI45986;EAX06399;EAX06400;EAX06401;NP_000007;NP_001120800;P11310 Hs.445040 1673630;1743931;1745673;1745675;1745677;1745679;1754041;1792750;1792756;1797260;2141652;2163872;2189357;5491767 ACADM;ACADM__2214;D17S2133;D1S2386;GDB:375715;GDB:631816;GDB:631822;GDB:631826;GDB:631830;MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P4;RH17668;SHGC-132084 ACAD1;FLJ18227;FLJ93013;FLJ99884;MCAD;MCADH OTTHUMP00000011345;OTTHUMP00000011346;OTTHUMP00000232508;acetyl-coenzyme a dehydrogenase, medium chain;acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain;medium-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000117054 89 08447 201450;607008 REVIEWED 6481025 ACAP2-IT1 ACAP2 intronic transcript 1 (non-protein coding) 100874306 AC090018 miscrna 41426 735407 ACADVL acyl-CoA dehydrogenase, very long chain The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p13.1 7063877 7069309 + 7120444 7128586 + 704409;1580863;1300337;1300048;1300240;2317683;2317589;6480464;6484113;7240710 11125071;734536;704385;15850553;14728676 8466512;7479827;7668252;18063578;18660489;18156936;17999356;17514507;17457695;17374501;16464760;15489334;14702039;14611808;12609736;12477932;10790204;10077518;11158518;9973285;9709714;9599005;9546340;8921384;8845838;8554625;8554073;8125298;7769092;19327992;19889959;20060901;20099975;20301763;20952238;22939629;22093928;20186120;18781797;21890473;21906983;22093833;21932095;16344560;16212417;18337751;21988832;22304920;23169530 37 B3KPA6;G3V1M7;J3KS89;J3KSR4;J3QKU9;J3QRJ8;J9JID6;K7EJW8;K7EMF8;K7EQP4;P49748 AA643658;ABBA01054853;ABBA01054854;AC120057;AF244932;AJ012053;AK056083;AK056956;AK058109;AK097243;AK222518;AK293549;AK302653;AL536186;AMYH01008072;AMYH01008073;BC000399;BC012912;BC020218;BI822737;BP387474;CH471108;D43682;D78298;DA945553;L46590;NG_007975;NM_000018;NM_001033859;NM_001270447;NM_001270448;X86556 AAA79002;AAH00399;AAH12912;AAH20218;BAA07781;BAA29057;BAD96238;BAG51618;BAG51833;BAG57027;BAG63892;CAA60253;EAW90246;EAW90247;EAW90248;EAW90249;EAW90250;NP_000009;NP_001029031;NP_001257376;NP_001257377;P49748 Hs.437178 1648975;1736686;1778559;2216976 ACADVL_2963;D17S1508E;RH11576;SHGC-35547 ACAD6;LCACD;VLCAD OTTHUMP00000128351;acyl-Coenzyme A dehydrogenase, very long chain;very long-chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000072778 92 01940 201475;609575 REVIEWED 1313339 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 17 17 17 p13.1 7265787 7280732 + 7180597 7195517 + 7239848 7254793 + 1580863;6480464;6907045 18685082;22645133;17474147;18003747;17664335;17010122;17005562;16777052;16189514;15525538;15489334;12477932;11062263;11050434;7584044;7566098;20379614;20800603;22188517;22505724 9744 I3L0K9;I3L268;I3L2Z4;I3L3X6;Q15027 AA356620;ABBA01054860;AC026954;AMYH01008078;BC018543;BT009788;CH471108;D30758;NM_014716 AAH18543;AAP88790;ABM82645;BAA06418;EAW90209;EAW90210;NP_055531;Q15027 Hs.337242 5023450 RH25286 CENTB1;KIAA0050 Arf GAP with coiled coil, ANK repeat and PH domains 1;OTTHUMP00000128386;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1;centaurin, beta 1;centaurin-beta-1;cnt-b1 protein-coding ENSG00000072818 16467 08474 607763 VALIDATED 735869 ACADSB acyl-CoA dehydrogenase, short/branched chain Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008] 10 10 q26.13 124758419 124807796 + 124768429 124817806 + 1300336;704409;1580863;1300048;6480464;6907045;7240710 734879;11125071 7698750;17143180;16344560;16331964;16331963;16317551;15489334;12855692;12477932;11013134;10832746;7759115;16385451;19615732;20418485;20547083;17207965;20877624;21139048;21890473;22277967;22797925 36 B4DQ51;H0Y6T4;P45954 ABBA01062838;AC012391;AC073585;AF260678;AK298638;AK314241;AL731666;AL831821;AMYH01003144;AMYH01003145;BC013756;BC020931;BC032395;BC045723;BE875638;CH471066;DA964130;NG_008003;NM_001609;U12778 AAA74424;AAF97921;AAH13756;ADQ31765;BAG36909;BAG60813;CAD38535;EAW49291;NP_001600;P45954 Hs.81934 1652987;1736014;1795284;2114196;2127803;2147827;2159232;2162982;2183653;5109549;5122025 ACADSB_201;D10S1297E;D10S2417;D21S1698;RH44700;RH44778;RH68878;RH70481;SHGC-13269;SHGC-35255;WI-18655 2-MEBCAD;ACAD7;SBCAD 2-methyl branched chain acyl-CoA dehydrogenase;2-methylbutyryl-coenzyme A dehydrogenase;OTTHUMP00000020685;OTTHUMP00000240061;acyl-Coenzyme A dehydrogenase, short/branched chain;short/branched chain specific acyl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000196177 91 02626 600301;610006 REVIEWED 1347120 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 3 3 3 q29 193403894 193572181 - 196476768 196645041 - 194995465 195163817 - 1580863;6480464;6907045 18003747;16344560;15592455;15489334;12477932;11062263;11050434;11001876;8125298;7584044;18685082;23184937;22379092 23527 C9J8L1;F8WAU0;H7C1E0;H7C3K3;H7C3Q8;Q15057 ABBA01001610;ABBA01001611;AC090018;AC091633;AC126170;AJ238248;AK222635;AK290369;AMYH01013786;BC014843;BC017120;BC031005;BC047579;BC060767;CA413842;CH471052;D26069;DA774230;DB087306;NM_012287 AAH31005;AAH60767;BAA05064;BAF83058;CAB41450;EAW78026;EAW78027;NP_036419;Q15057 Hs.593373 1659313;1662382;1686426;1690824;1756055;2112552;2126778;2155167;2166787;2186802;5022651 D11S2921;D3S4421;RH12652;RH25278;RH68527;RH71442;RH76068;SHGC-142861;SHGC-59960;SHGC-77675;STS-R86950 CENTB2;CNT-B2;KIAA0041 Arf GAP with coiled coil, ANK repeat and PH domains 2;OTTHUMP00000208844;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2;centaurin, beta 2;centaurin-beta-2 protein-coding ENSG00000114331 16469 09681 607766 VALIDATED 68507 ACAN aggrecan This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008] 15 15 q26.1 87147678 87219589 + 89346674 89418585 + 1300269;1580863;2315807;2315836;2315837;2315073;6480464;7240710 9192671;18511192;11764092;14769391;19955224 1326552;1569188;19333097;19298220;19294492;19266077;19180518;19110214;19034380;19004047;18391952;18055126;18040638;17632389;17588949;17568421;17261541;16741449;16650460;16574327;16537531;16425147;16402214;16344560;16335952;16080123;16001263;15590670;14724283;14722076;14627072;14558103;12888576;12477932;12054629;11932252;11898616;11854269;11038354;10922468;10400671;9756610;9688535;9654129;9013976;8921002;8611178;8314595;8216228;7998967;7827755;7626017;7574678;7524681;7240256;2789216;12205105;1985970;22297263;15505028;22670872;10751421;14701864;16188468;19545413;19657146;19669783;19790048;19893584;20137779;20367118;20379614;20496110;20505571;20367178;20618160;19913121;20546612;20628086;18829133;20936487;21039430;20640910;20806220;21277254;22241609;21117903;21655647;21689646;20881960;19220578;21224775;19953087;21948754;22015197;21998595;22441960;22820679;23209686;17308074;22329809 176 E7ENV9;E7EX88;H0YK70;H0YM81;H0YMF1;P16112;Q6PID9 ABBA01053001;ABBA01053002;AC103982;AK290723;AMYH01006911;BC036445;BC150624;BQ182050;BQ446640;CH471101;CS025622;DA596050;J05062;L29488;M55172;NG_012794;NM_001135;NM_013227;S74659;U13192;X17406;X80278 AAA35726;AAA62824;AAB48068;AAC60643;AAH36445;AAI50625;BAF83412;CAA35463;CAI61688;EAX02017;EAX02018;EAX02019;EAX02020;EAX02021;NP_001126;NP_037359;P16112 Hs.2159;Hs.616395 1335591;1339626;1724835;1761671;2136832;2140715 D15S1004;D19S876;RH119180;RH17913;SGC30467;SHGC-145650 AGC1;AGCAN;CSPG1;CSPGCP;MSK16;SEDK aggrecan 1;aggrecan core protein;cartilage-specific proteoglycan core protein;chondroitin sulfate proteoglycan core protein 1;large aggregating proteoglycan APPROVED protein-coding ENSG00000157766 319 01123 155760;165800;608361;612813 REVIEWED 737017 ACAT1 acetyl-CoA acetyltransferase 1 This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009] 11 11 q22.3 107497468 107523485 + 107992258 108018895 + 704409;1300338;1300048;1580863;1300240;2307223;2326222;1358268;2326093;1581042;2326081;6480464;6907045;7240710 11125071;734884;704385;19147991;7617578;15308631;15877199;15961705;19878707 1979337;3709573;17353931;1715688;19625677;19269342;19217763;19112833;18996102;18971559;18779653;18562306;18542101;18511318;18393248;18029348;18000807;17691824;17371050;17236799;16935016;16341674;15242332;15158756;15128923;12754704;12477932;9744475;9700610;9607396;9380443;8103405;7907600;7749408;7728148;7173255;4690360;1684944;1627655;1351831;1346617;21110914;20460577;20046049;20156697;20167577;20602615;19851860;20877624;20843517;22275303;20945045;22939629;22057399;21139048;21890473;21906983;19738201;21177161;21988832;22623428;21081666;21791085;22145905;22243772;22586326;20301313;21145461;22268729 38 E9PKF3;E9PRQ6;G3XAB4;H0YEL7;P24752 ABBA01039868;ABBA01039869;ABBA01039870;AF086561;AK312574;AMYH01004021;AP002433;AW081574;BC010942;BC063853;BM789408;CH471065;D10511;D90228;NG_009888;NM_000019;S70578 AAH10942;BAA01387;BAA14278;BAG35468;EAW67103;EAW67104;EAW67105;NP_000010;P24752 Hs.232375 1690918;1736160;1778692;2111318;2138269;2140028;2163311;5117438;5117440;5117442;7185620 ACAT1;D11S2051;D11S2241E;D11S384;D11S4336;GDB:555481;GDB:555487;GDB:555490;RH45817;STS-AA010069 ACAT;MAT;T2;THIL OTTHUMP00000232753;acetoacetyl Coenzyme A thiolase;acetoacetyl-CoA thiolase;acetyl-CoA acetyltransferase, mitochondrial;acetyl-Coenzyme A acetyltransferase 1;mitochondrial acetoacetyl-CoA thiolase APPROVED protein-coding ENSG00000075239 93 01946 203750;607809 REVIEWED 1321777 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 1 1 1 1337872 1353397 + 1218807 1228503 - 1227764 1243269 - 1580863;6480464;6907045 15489334;14702039;12477932;11214970;16169070;19548526;19913121;20628086;21900206 116983 F8W850;Q8WTZ1;Q96P50 AB051503;ABBA01016029;AF411981;AK093954;AK098490;AL139287;AL162741;AMYH01000124;AMYH01000125;BC004874;BC021851;BC029929;BC047001;BC051194;CH471183;NM_030649 AAH04874;AAH21851;AAH29929;AAH51194;AAL04165;BAB21807;BAC04257;EAW56246;EAW56247;EAW56248;EAW56249;EAW56250;NP_085152;Q96P50 Hs.535257 2183853 SHGC-74126 CENTB5;KIAA1716 OTTHUMP00000002285;arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3;centaurin, beta 5;centaurin-beta-5;cnt-b5 protein-coding ENSG00000131584 16754 10820 VALIDATED 1312817 ACBD6 acyl-CoA binding domain containing 6 1 1 1 q25.1 153364592 153578887 - 178523988 178738102 - 180257352 180472022 - 737633;1580863;6480464 12477932 18268358;16710414;15489334;8889549;20379614;20098747;18029348;21832049;19471022;21139048;21890473;21963094 84320 B2RAA8;Q9BR61 AA085012;ABBA01027794;ABBA01027795;ABBA01027796;AK314112;AL139141;AL358354;AL445469;AL537685;AL561590;AMYH01001537;AY606133;BC006505;BU170874;CH471067;NM_032360 AAH06505;BAG36805;EAW91082;EAW91083;EAW91084;NP_115736;Q9BR61 Hs.200051 1683038;1692972;1780128;1852776;2028464;2187693 AL034203;At-8BJ-008;REN85236;RH80540;SHGC-154434;SHGC-76002 MGC2404 OTTHUMP00000033086;acyl-CoA-binding domain-containing protein 6;acyl-Coenzyme A binding domain containing 6 APPROVED protein-coding ENSG00000135847 23339 12416 VALIDATED 1354229 ACAT2 acetyl-CoA acetyltransferase 2 The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. [provided by RefSeq, Jul 2008] 6 6 q25.3 160102979 160120077 + 160182989 160200087 + 1298605;1581921;1556516;1601111;1601112;2316857;2326093;6480464;6907045;7240710 2475872;14557872;11100118;16675724;16195894;16876788;15877199 21044950;17353931;7911016;19282863;19071091;18996102;18660489;18269457;18000807;17950700;17919884;15733928;15489334;15342556;15158756;14702039;14574404;12621162;12477932;8812443;8125298;6150136;12518221;16331323;19467657;20167577;17207965;18029348;20877624;19913121;20602615;20628086;22939629;22863883;21139048;21890473;22155889;21987487;22053931 39 B7Z233;Q9BWD1 AB208993;ABBA01021060;ABBA01021061;ABBA01021062;AF356877;AK055001;AK225089;AK225244;AK291080;AK294273;AL135914;AMYH01016804;BC000408;BM997310;BP210609;CH471051;NG_023389;NM_005891;S70154 AAB30856;AAH00408;AAM00223;ADQ32668;BAD92230;BAF83769;BAH11719;EAW47619;EAW47620;NP_005882;Q9BWD1 Hs.571037 1690115;1776183;1857693;2150370;2168149;5111951 D6S1840;G05384;G43314;RH93477;SHGC-36020;SHGC-37084 OTTHUMP00000017527;acetoacetyl Coenzyme A thiolase;acetyl-CoA acetyltransferase, cytosolic;acetyl-CoA transferase-like protein;acetyl-Coenzyme A acetyltransferase 2;acetyl-coenzyme a acetyltransferase 2 (acetoacetyl coenzyme a thiolase);cytosolic acetoacetyl-CoA thiolase 2289445;2314977;2314981;2314987;2314988;2314994;2314995;2314996 BW415_H;BW515_H;GLUCO127_H;INSUL31_H;INSUL38_H;INSUL40_H;SLEP23_H;SLIPL24_H APPROVED protein-coding 94 00006 100678;614055 REVIEWED 1318153 ACBD4 acyl-CoA binding domain containing 4 This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 17 17 17 q21.31 39919127 39931193 + 40568580 40577324 + 43209967 43221543 + 6480464 16344560;15489334;15221005;14702039;12477932;19430483;17207965;21045733;21832049;22566634;20881960 79777 B4DJP3;K7EM05;K7EMH4;Q8NC06 AB073387;ABBA01028325;ABBA01028326;ABBA01028327;AC142472;AK023384;AK075104;AK296167;AK316359;AMYH01008438;AMYH01008439;BC022000;BC029164;BC041143;CH471178;DA039654;DB128538;DC393065;DC421936;NM_001135704;NM_001135705;NM_001135706;NM_001135707;NM_024722 AAH29164;AAH41143;ADQ33037;BAB14553;BAC11403;BAD38638;BAG58905;BAH14730;EAW51548;EAW51549;EAW51550;EAW51551;EAW51552;NP_001129176;NP_001129177;NP_001129178;NP_001129179;NP_078998;Q8NC06 Hs.110298 1686076;2131056;5022578 D1S1423;RH45681;RH98888 FLJ13322;FLJ90623;HMFT0700 acyl-CoA-binding domain-containing protein 4;acyl-Coenzyme A binding domain containing 4 APPROVED protein-coding ENSG00000181513 23337 REVIEWED 1319743 ACBD5 acyl-CoA binding domain containing 5 This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 10 10 10 p12.1 27200570 27247485 - 27524149 27571065 - 27484143 27531068 - 1580863;6480464 15342556;14702039;12477932;12056414;16385451;17207965;20626622;18029348;21890473;21906983;21963094;22190034 91452 B7Z2A7;B7Z2R7;Q5T8E0;Q8NCM9;Q9UFB5 AB082527;ABBA01034394;ABBA01034395;ABBA01034396;ABBA01034397;ABBA01034398;ABBA01034399;AF505653;AI453384;AK057469;AK294510;AK295031;AK304842;AL133064;AL160291;AMYH01002204;AMYH01002205;BC011364;BC025309;BC030555;BP200763;BX643349;CA776355;CH471072;DC333545;NG_032960;NM_001042473;NM_001271512;NM_145698;NR_024150;NR_073195;NR_073196;NR_073197 AAH30555;AAP30852;ADQ32840;BAC02705;BAG51918;BAH11793;BAH11953;BAH14266;CAB61388;EAW86059;EAW86060;EAW86061;EAW86062;EAW86063;NP_001035938;NP_001258441;NP_663736;Q5T8D3 Hs.530597 1342120;1720025;1731082;1731096;1731104;1782118;2123752;2133550;5022322;5092802 A006F35;D10S1733;D10S291;D10S298;D10S303;D11S2560;G32339;RH123807;SHGC-155089;STS-H57537 DKFZp434A2417;KIAA1996 OTTHUMP00000019362;OTTHUMP00000019363;OTTHUMP00000019364;OTTHUMP00000019365;acyl-CoA-binding domain-containing protein 5;acyl-Coenzyme A binding domain containing 5;endozepine-related protein;membrane-associated diazepam binding inhibitor APPROVED protein-coding ENSG00000107897 23338 12415 REVIEWED 1348505 ACBD3 acyl-CoA binding domain containing 3 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008] 1 1 1 q42.12 199523027 199565088 - 224399003 224441046 - 226332380 226374423 - 1580863;6480464 21145461;17711851;18636124;16870622;16710414;15489334;15231748;14702039;12692076;12665801;12477932;11731621;11590181;22383495;12711385;18029348;22863883;22258260;19322201;21139048;21890473;21906983;22124328;22053931;22190034;22505724;22796112 64746 O43466;Q9H3P7 AB043587;ABBA01009645;ABBA01009646;ABBA01009647;ABBA01009648;AF020762;AK025520;AK057118;AK314468;AL592045;AMYH01001778;AY150218;BC034563;BC039575;BC045533;BC060792;CH471098;NG_028985;NM_022735 AAB97675;AAH34563;AAH45533;AAH60792;AAN60219;BAB15159;BAB20592;BAG37076;EAW69775;EAW69776;NP_073572;Q9H3P7 Hs.520207 1646784;1666214;1667595;1680010;1686518;1746005;1787856;1788608;1790217;2156909 AI234525;BCD1405;C76375;D1S3722;RH125959;RH69697;RH80265;RH80922;SHGC-132660;SHGC-37008 GCP60;GOCAP1;GOLPH1;PAP7 Golgi resident protein GCP60;OTTHUMP00000035668;PBR associated protein;PBR- and PKA-associated protein 7;PKA (RIalpha)-associated protein;acyl-CoA-binding domain-containing protein 3;acyl-Coenzyme A binding domain containing 3;golgi complex associated protein 1, 60kDa;golgi complex-associated protein 1;golgi phosphoprotein 1;peripheral benzodiazepine receptor-associated protein PAP7;peripherial benzodiazepine receptor associated protein APPROVED protein-coding ENSG00000182827 15453 08432 606809 REVIEWED 1350250 ACBD7 acyl-CoA binding domain containing 7 10 10 10 p13 15046107 15059408 - 15157480 15170781 - 15117474 15130775 - 6480464 15489334;15164054;14702039;12477932;23251661 414149 Q8N6N7 ABBA01034600;AK095538;AK295169;AL590365;AMYH01002055;BC029526;BX114172;CH471072;NM_001039844 AAH29526;ADZ15342;BAG53080;BAH11998;EAW86243;NP_001034933;Q8N6N7 Hs.644598;Hs.723069 5022578;5037552 D1S1423;D8S2279 FLJ38219;FLJ52263;MGC33893;bA455B2.2 OTTHUMP00000019197;acyl-CoA-binding domain-containing protein 7;acyl-Coenzyme A binding domain containing 7 APPROVED protein-coding 17715 VALIDATED 6895289 ACE3P angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene 17 q23.3 61584395 61597188 + 17597519 100129123 ABBA01035330;AC113554;AMYH01008548;NG_016186 ACE3 pseudo 44365 INFERRED 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11 11 11 p11 44234936 44252861 + 44044433 44062145 + 44087729 44105569 + 6480464 11470512;16344560;16189514;14702039;12477932;20453000 84680 B4E219;E9PRT9;E9PS61;Q96QU6 ABBA01060771;AC134775;AK057649;AK302515;AK304074;AK307380;AL833533;AMYH01003522;AY026508;BC020197;CH471064;DA196370;DA406116;DC390076;NM_001127219;NM_032592 AAH20197;AAK11482;BAB71541;BAG63791;BAG64981;EAW68072;EAW68073;NP_001120691;NP_115981;Q96QU6 Hs.126706 2189509 G73152 ACS;PHACS 1-aminocyclopropane-1-carboxylate synthase-like protein 1;ACC synthase-like protein 1;OTTHUMP00000232862 protein-coding ENSG00000110455 23989 10524 608405 VALIDATED 2302255 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 11 11 11 p11.2 44216736 44228734 + 44026107 44038103 + 44069531 44081527 + 12477932 390110 E9PI59;Q3C1W0;Q4AC99 AB231732;AB231733;AB231734;ABBA01060771;AC134775;AMYH01003522;BC144554;CH471064;DW009984;NM_001031854 BAE17132;BAE46887;EAW68074;NP_001027025;Q4AC99 Hs.558851 1695414 SHGC-68777 1-aminocyclopropane-1-carboxylate synthase-like protein 2;ACC synthase-like protein 2;OTTHUMP00000232861;probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 protein-coding ENSG00000205126 34391 VALIDATED 1353412 ACHAP acetylcholinesterase-associated protein 42 107 1344470 ACER1 alkaline ceramidase 1 Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010] 19 19 19 p13.3 6245303 6272430 - 6257725 6284562 - 6306510 6333640 - 1580863;6480464;6907045 17713573;17562024;16477081;15489334;12783875;12477932;11915342 125981 Q8TDN7 ABBA01055969;ABBA01055970;ABBA01055971;ABBA01055972;ABBA01055973;ABBA01055974;AC011491;AC114268;AF347024;AMYH01009372;BC112122;BC112124;CH471139;CU449837;NM_133492 AAI12123;AAI12125;AAL83822;EAW69104;EAW69105;NP_597999;Q8TDN7 Hs.352609 ALKCDase1;ASAH3;MGC138327;MGC138329 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3;N-acylsphingosine amidohydrolase 3;acylsphingosine deacylase 3;alkCDase 1;alkaline CDase 1;alkaline ceramidase 1 APPROVED protein-coding 18356 12496 613491 VALIDATED 1347174 ACE2 angiotensin I converting enzyme 2 The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008] X X p22 15489077 15529058 - 15579156 15620192 - 1581742;1581931;1576349;1580863;1558664;1642828;2313796;2313798;2313800;2313797;2313799;2325210;4140485;4140483;6480464;6907045 15638741;16520407;15486224;15671045;16459167;19077419;18753062;18235039;19034303;18679036;19212105;20465954;20581171 18343844;22048948;10969042;10924499;18258853;15165741;15380922;17703127;18279660;19411314;19297479;19289653;19286757;19286756;19164480;19164471;19141296;19136547;19077694;19067252;19051693;19021774;19020433;18931070;18926157;18814896;18660448;18560893;18554741;18502721;18496132;18490652;18448527;18441099;18389211;18310257;18223028;18223027;18223023;18208662;18164957;18029348;18022600;17906677;17897017;17504232;17473847;17303661;17079315;17037581;17037544;17037543;17037534;16962475;16912312;16866021;16690935;16574921;16510163;16338465;16315782;16283142;16215952;16211375;16166518;16166094;16088128;16055515;16006956;16001071;15983030;15979045;15937940;15897467;15791205;15769906;15640278;15489334;15452268;15361769;15283675;15276642;15233982;15231706;15151696;15141377;15084671;14754895;14670965;14647384;12975309;12967627;12477932;12459472;12075344;12025971;11815627;20660625;20484496;21115782;20349406;20831027;20541774;20674894;21068237;20854388;21052031;20798044;19913121;20142028;20592051;20628086;20679547;20813695;16647014;19461648;19684612;19700132;19716087;19864379;19901337;19924243;19926873;19934006;20117248;20117991;20134095;20160196;20204277;20224560;21189404;20692300;21072744;20703229;20559404;21411533;21316680;21346373;22629438;20060185;23091417;21457402;21864606;21880865;22291007;21963832;18070603;21265092;22025374;21946695;22033511;21490025;21814048;23230080;21952934;22297693;22523556;21993363;22179088;22718567;22475818;21670585;22749485;22647782;22750422;23144053 59272 Q9BYF1 AB046569;AB193259;AB193260;ABBA01071320;ABBA01071321;ABBA01071322;ABBA01071323;ABBA01071324;ABBA01071325;AC097625;AF241254;AF291820;AF366352;AK026461;AK315144;AL110224;AMYH01022107;AY217547;AY358714;AY623811;BC032938;BC039902;BC048094;BC048144;BC059378;CH471074;GQ262784;NG_012575;NM_021804 AAF78220;AAF99721;AAH39902;AAH48094;AAO25651;AAQ89076;AAT45083;ACT66268;BAB40370;BAD99266;BAD99267;BAG37592;CAB53682;EAW98891;EAW98892;NP_068576;Q9BYF1 Hs.178098 1685610;1756197;1797262;2133063 ACE2_1659;DXS7698;RH92830;SHGC-143063 ACEH;DKFZp434A014 ACE-related carboxypeptidase;OTTHUMP00000022963;angiotensin I converting enzyme (peptidyl-dipeptidase A) 2;angiotensin I converting enzyme 2;angiotensin-converting enzyme 2;angiotensin-converting enzyme homolog;metalloprotease MPROT15;peptidyl-dipeptidase A APPROVED protein-coding ENSG00000130234 13557 02274 300335 REVIEWED 1351362 ACD adrenocortical dysplasia homolog (mouse) This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008] 16 16 q22.1 66248916 66252219 - 67691415 67694718 - 1580863;6480464 21145461;22863003;17237767;15181449;15380063;17237768;16880378;16166375;19424630;18185984;17632522;17466001;17373762;16749892;16713569;16504561;16344560;15537664;15489334;15231715;14702039;12477932;9110174;8619474;16189514;16169070;20094033;20937264;19648609;19766477;20404094;21209389;21355086;15316005;21044950;15383534;21906983;23251661 65057 Q96AP0;R4GMR6;R4GND4;R4GNJ5 ABBA01025451;AC010530;AF070535;AK023726;AK125623;AK301090;AMYH01007751;AY502940;AY971883;BC016904;CH471092;DB040017;NM_001082486;NM_001082487;NM_022914 AAH16904;AAS80318;AAX82621;BAB14658;BAG62692;EAW83154;EAW83155;NP_001075955;NP_001075956;NP_075065;Q96AP0 Hs.78019 1649461;1684624;1797134;2170058 LOC24432;RH64901;RH78775;SHGC-61086 PIP1;PTOP;TINT1;TPP1 OTTHUMP00000174851;OTTHUMP00000174852;POT1 and TIN2 organizing protein;POT1 and TIN2-interacting protein;TIN2 interacting protein 1;adrenocortical dysplasia protein homolog APPROVED protein-coding ENSG00000102977 25070 12417 609377 REVIEWED 1312176 ACER2 alkaline ceramidase 2 The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010] 9 9 9 p22.1 19335075 19378570 + 19398925 19442500 + 19408925 19452500 + 6480464;6907045 18945876;16940153;15498874;15489334;15164053;12477932;20089856;20379614;20628055 340485 B3KVV5;Q5QJU3 ABBA01065196;AF370405;AK123581;AL158206;AL391834;AMYH01019271;AY312516;BC092487;CH471071;NM_001010887 AAH92487;AAQ15241;AAQ85132;BAG53917;EAW58634;NP_001010887;Q5QJU3 Hs.41379 1647973;2218256 ASAH3L_4379;STS-H90280 ALKCDase2;ASAH3L;FLJ41587 N-acylsphingosine amidohydrolase 3-like;OTTHUMP00000021124;acylsphingosine deacylase 3-like;alkCDase 2;alkaline CDase 2;alkaline ceramidase 2;ceramide hydrolase;haCER2 APPROVED protein-coding 23675 16512 613492 VALIDATED 1353263 ACHM1 achromatopsia (rod monochromacy) 1 7240710 1347967 6021 109 248200;262300 735878 ACHE acetylcholinesterase Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008] 7 7 q22 100325551 100331477 - 100487615 100493541 - 1300048;1580863;1300342;1300297;1300239;2312424;2312432;2312438;2301195;2312430;2301197;2312437;5509843;5509844;5509842;5509846;5509847;5509849;5509850;5688128;5688055;5688130;6480464;5688131;5510037;5688054;5688133;5688127;6907045 734904;10087275;704405;19374834;19296211;2658981;126256;19303406;334962;1385785;20088621;16581404;17986328;19474411;21991983;20645790;20053170;21921108;17657467;21303225;20464061;11403956;19453088;7634486;2953866 1517212;11283752;12524166;3954986;12769797;15454088;16289501;14766237;8460160;19468687;19371631;19371630;19327769;19294450;19185568;19156168;19086053;19019080;18780301;18769671;18612832;18470725;18454940;18344198;18299393;18258603;18215127;18194455;18161504;17984143;17948252;17729290;17702992;17606622;17503475;17476278;17370251;17335779;17320203;17272501;17192673;17192630;17192624;16996687;16909200;16832351;16801396;16516310;16429485;16375580;16262697;16256968;16256091;16213467;15974920;15974894;15783300;15715671;15690550;15629887;15526038;15488495;15474030;15459952;15161650;15123727;15078872;15060281;12963741;12928915;12853948;12851386;12811800;12690205;12609505;12604711;12548360;12477932;12466963;12427014;12140295;12081473;12069617;12009429;11804574;11799248;11239002;11053835;11002295;10837146;9847074;9811904;9689136;9640563;9579781;8488842;8449945;8299725;8280063;8248502;8125298;7836436;7085778;3319614;2734315;2714437;2263619;1748670;1744105;1609795;1391965;1380483;21530001;21621296;20138030;20338155;20356562;20398640;20433814;18457821;19051205;19730683;20193849;20398908;20431033;8349597;10800960;20173328;20883446;19913121;20529763;20602615;20628086;20964587;21490949;21274871;21730071;21473860;21493754;21377978;21795704;21576115;23440190;22142546;23119107;23047022;23047027;23063927;22990020;19912576;20156100;22560633;22805525 43 C9J2S3;C9JD78;C9JUK5;C9JZL6;F8WAR7;F8WD34;F8WD68;Q53F46 ABBA01013176;AC011895;AF002993;AF312032;AF334270;AK223443;AK291321;AMYH01017746;AY389977;AY750146;BC001541;BC026315;BC036813;BC094752;BC105060;BC105062;BC143469;BG707892;CH236956;CH471091;L06484;L42812;M55040;NG_007474;NM_000665;NM_015831;S71129 AAA68151;AAC60618;AAH36813;AAI05061;AAI05063;AAI43470;AAK21003;AAO32948;AAP22364;AAP22365;AAR26654;AAU43801;BAD97163;BAF84010;EAL23812;EAL23813;EAW76460;EAW76461;EAW76462;EAW76463;EAW76464;NP_000656;NP_056646;P22303 Hs.154495 1769989;2157266 RH17909;STS-M55040 ACEE;ARACHE;N-ACHE;YT OTTHUMP00000211345;OTTHUMP00000211346;OTTHUMP00000211347;OTTHUMP00000211349;OTTHUMP00000211356;Yt blood group;acetylcholinesterase;acetylcholinesterase (Yt blood group);apoptosis-related acetylcholinesterase APPROVED protein-coding ENSG00000087085 108 00010 100740;112100 REVIEWED 1343783 ACLS acrocallosal syndrome 7240710 46 114 200990;614120 737323 ACE angiotensin I converting enzyme This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010] 17 17 q23.3 58908166 58928711 + 61554422 61575741 + 1581742;1566491;1566498;1598433;1300340;1331525;1601113;1601115;1580863;1601114;1300243;2313799;4140923;4140922;4140920;4140480;2325220;2325221;4140486;2325224;2325227;2325229;2325231;2325232;2325226;2325207;2325213;2325225;2311449;2325208;4140933;2325211;4140915;2325215;4140485;4140914;4140916;4140917;4140918;4140930;4140487;4140925;4140478;4140913;4140488;4140919;4140912;2325233;4140483;4140926;5129168;6480464;6893480;6893484;6893483;6893472;6903283;6893481;6893471;6907045;7240710 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1636 B4DKH4;F5H1K1;F6X3S4;J3KRH5;J3KRQ0;J3KS28;J3KSQ5;J3KTB8;J3KTH9;J3QKZ3;J3QLR4;J3QRX8;J3QSC7;L7MUH0;P12821 A31567;AB208971;ABBA01035331;AC113554;AF118569;AF229986;AK296566;AK300516;AK301988;AK302019;AK309514;AMYH01008548;AY436326;AY999972;AY999973;BM908180;BM908222;CH471109;EU332840;J04144;JQ927553;M26657;M29981;NG_011648;NM_000789;NM_001178057;NM_152830;S81361;X16295 AAA51684;AAA60611;AAD14360;AAD28560;AAD28561;AAR03504;ABA39228;ABA39229;ABY87529;AFK65504;BAD92208;BAG59186;BAG62228;BAG63395;BAG63418;CAA02045;CAA34362;EAW94311;EAW94312;EAW94313;EAW94314;EAW94315;EAW94316;EAW94317;EAW94318;EAW94319;EAW94320;EAW94321;NP_000780;NP_001171528;NP_690043;P12821 Hs.298469 1721485;1741939;1745685;1745687;1794286;1794288;1852474;2117682;2155720;5017675 ACE;G59596;GDB:186915;GDB:631883;GDB:631894;PMC310924P2;PMC310924P3;RH17589;SHGC-175;SHGC-57821 ACE1;CD143;DCP;DCP1;ICH;MGC26566;MVCD3 CD143 antigen;OTTHUMP00000206956;angiotensin 1 converting enzyme 1;angiotensin I converting enzyme (peptidyl-dipeptidase A) 1;angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript;angiotensin converting enzyme, somatic isoform;angiotensin-converting enzyme;carboxycathepsin;dipeptidyl carboxypeptidase 1;dipeptidyl carboxypeptidase I;kininase II;peptidase P;testicular ECA 1643091 BP90_H APPROVED protein-coding ENSG00000159640 2707 00108 104300;106180;267430;612624;614519 REVIEWED 1346570 ACER3 alkaline ceramidase 3 11 11 11 q13.5 73879386 74042342 + 76249601 76411617 + 76571917 76734850 + 1580863;6480464;6907045 18619555;15489334;14702039;12477932;11356846;19834535;20068046;20379614;19913121;20628086;17207965;19322201 55331 B7Z2Q2;B7Z2V2;E9PIN9;E9PJS5;E9PKR3;E9PL35;E9PLZ9;E9PR08;F5GYA0;J3KN85;Q9NUN7 ABBA01017443;ABBA01017444;ABBA01017445;AF214454;AF327353;AK002100;AK293800;AK294978;AK295142;AK295327;AK308856;AK315000;AK316120;AMYH01003823;AP000752;AP002498;AP003119;BC049837;BC063034;BC073853;BG702017;CH471076;NM_018367 AAH73853;AAK71923;AAL56013;ADQ31994;BAA92085;BAG37496;BAH11598;BAH11938;BAH11988;BAH12032;BAH14491;EAW75009;EAW75010;EAW75011;EAW75012;NP_060837;Q9NUN7 Hs.23862 1670644;1737037;1738029;2121746;2125447;2128213;2177539;5093432 A009O40;D11S2785;D11S3647;G32714;RH36071;RH47059;RH65512;WI-11295 APHC;FLJ11238;PHCA OTTHUMP00000228961;OTTHUMP00000228966;OTTHUMP00000228967;OTTHUMP00000229029;OTTHUMP00000229030;alkCDase 3;alkaline CDase 3;alkaline ceramidase 3;alkaline dihydroceramidase SB89;alkaline phytoceramidase;phytoceramidase, alkaline protein-coding 16066 17844 VALIDATED 1353783 ACKR2 atypical chemokine receptor 2 This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008] 3 3 p21.3 42825968 42883779 + 42850964 42908775 + 632634;1580863;6480464 9364936 18822328;18714007;18708360;18676013;18201974;17607362;16814608;16344560;15489334;15084596;12671049;12594248;12477932;12406880;11821900;11238036;10781587;10725697;10725696;10706668;10702689;10364178;9405404;9139699;16014924;21151196;15067078;19074885;19446728;19632987;20147628;20237496;20404785;22796582;22867710;16148;21832049;22797410;23479571;22226505;22939232;23251661;23314186 1238 O00590;Q7Z7I1 ABBA01024762;ABBA01024763;AC099329;AF481959;AK313561;AMYH01013115;AY262687;BC008816;BC011588;BC011631;BC018716;BC020558;BC101629;BC112045;BE901130;BT006800;CH471055;DA853159;DQ229109;HC006866;NM_001296;U94888;Y12815 AAB97728;AAH08816;AAH11631;AAH20558;AAI01630;AAI12046;AAP20651;AAP35446;AAP42156;ACE87069;BAG36335;CAA73346;CBH19238;EAW64678;EAW64679;EAW64680;EAW64681;NP_001287;O00590 Hs.146346 2111216;2112626;5492999 D3S288;D3S4375;UniSTS:483590 CCR10;CCR9;CMKBR9;D6;MGC126678;MGC138250;hD6 C-C chemokine receptor D6;CC-chemokine-binding receptor JAB61;OTTHUMP00000164034;OTTHUMP00000209653;chemokine (C-C motif) receptor 9;chemokine (C-C) receptor 9;chemokine receptor CCR-10;chemokine receptor CCR-9;chemokine receptor D6;chemokine-binding protein 2;chemokine-binding protein D6 APPROVED protein-coding ENSG00000144648 1565 09095 602648 REVIEWED 1323663 ACIN1 apoptotic chromatin condensation inducer 1 Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 14 14 q11.2 22597616 22634663 - 23527773 23564823 - 1580863;6480464;6907045 10490026;11208865;12393560;18029348;17409846;17081983;16964243;16537548;16177823;21145461;16083285;15324660;15302935;14729942;12477932;9734811;16169070;18250153;19387494;19615784;19668232;19759913;20800603;16159877;19454010;17332742;18951082;12665594;22939629;16051665;17370265;19596686;20639865;19471022;21139048;21693764;21890473;22388736;22446626;22586326;19322201;21628590;23084401;20195357;22113938;22365833;23205493;15998806;22174317;22952844 22985 B4DQZ7;E7EQT4;G3V3B0;G3V3T3;Q9UKV3 AB014570;ABBA01061305;ABBA01061306;ABBA01061307;AF124726;AF124727;AF124728;AK299034;AL050382;AL117258;AL132780;AL833228;AMYH01005602;BC032770;BC140805;BX247975;CH471078;CX786860;NG_030461;NM_001164814;NM_001164815;NM_001164816;NM_001164817;NM_014977 AAD56724;AAD56725;AAD56726;AAI40806;BAA31645;BAG61109;CAB43681;CAD62309;CAH10608;EAW66186;EAW66187;EAW66188;NP_001158286;NP_001158287;NP_001158288;NP_001158289;NP_055792;Q9UKV3 Hs.124490 1738939;1771581;1771873;1847807;2183045;5491485 D14S791;G35632;MARC_15355-15356:1013456014:1;RH44611;SGC34831;WI-20153 ACINUS;ACN;DKFZp667N107;KIAA0670;fSAP152 OTTHUMP00000164548;OTTHUMP00000164549;OTTHUMP00000164550;OTTHUMP00000164551;OTTHUMP00000246163;OTTHUMP00000246164;apoptotic chromatin condensation inducer in the nucleus;functional spliceosome-associated protein 152 APPROVED protein-coding ENSG00000100813 17066 05191 604562 REVIEWED 732597 ACMSD aminocarboxymuconate semialdehyde decarboxylase The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004] 2 2 2 q21.3 129309109 129372527 + 135312656 135376074 + 135596186 135659604 + 632265;1580863;6480464;6907045 12140278 16189514;15489334;12477932;19843166;21292315;23251661 130013 Q6ZV40;Q8TDX5 AB071418;ABBA01028189;ABBA01028190;AC016725;AK125008;AMYH01011115;BC016018;BC107420;BG428338;CH471058;NM_138326 AAH16018;AAI07421;AAY14997;BAB86938;BAC86023;EAX11649;EAX11650;EAX11651;EAX11652;NP_612199;Q8TDX5 Hs.655728 1697088;1761409;2114552;2116378;2173950 Cda11f02;RH102026;SHGC-145418;SHGC-36425;WI-14557 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase;OTTHUMP00000162500;OTTHUMP00000162501;picolinate carboxylase APPROVED protein-coding ENSG00000153086 19288 12326 608889 VALIDATED 1602221 ACKR4 atypical chemokine receptor 4 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013] 3 3 3 q22 130742371 130746875 + 133798784 133804072 + 132316094 132321382 + 6480464 10734104;10706668;10767544;16791897;15489334;12477932;11981810;11134065;9469451;8125298;19383822;16148;21988832;23341447 51554 H0Y9Z2;Q9NPB9 ABBA01059184;ABBA01059185;AC020632;AF110640;AF193507;AF233281;AK225927;AK304461;AK313923;AMYH01013502;AY221094;BC069438;BC095501;BQ015927;DC419249;HC305272;NM_016557;NM_178445 AAF44751;AAF59827;AAF61299;AAH69438;AAH95501;AAO65972;BAG36644;BAG65277;CBJ18620;NP_057641;NP_848540;Q9NPB9 Hs.310512;Hs.743547 1298229;1655241;1689779;1699964;1739555;1792054;1797360;1852438;2128143;2138450;5106961 A007H30;CCRL1_2475;D3S3127;D3S3147;D3S3456;D6S2427;PMC135942P1;RH103592;RH11977;RH69845;RH80321 CC-CKR-11;CCBP2;CCR-11;CCR10;CCR11;CCX CKR;CCX-CKR;CKR-11;PPR1;VSHK1 C-C CKR-11;C-C chemokine receptor type 11;CC chemokine receptor-like 1;OTTHUMP00000216426;OTTHUMP00000217053;chemocentryx chemokine receptor;chemokine, cc motif, receptor-like protein 1;orphan seven-transmembrane receptor, chemokine related APPROVED protein-coding ENSG00000129048 1611 07298 606065 REVIEWED 1343702 ACKR3 atypical chemokine receptor 3 This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008] 2 2 q37.3 237143119 237155736 + 237478380 237490997 + 1580863;6480464 22266857;22916293;17474147;19309748;18956235;18653785;18214534;18057003;17898181;17363734;16940167;16455976;16107333;15815621;15489334;12477932;12118328;10623723;8198609;1675791;1662665;1315461;22837378;22736769;20529825;23244149;20525755;20887389;20956518;20889540;18577758;20380740;20617529;2834384;20161793;18240029;19525223;19641136;19794961;20018651;20036838;20056178;20068066;20109310;20233927;20388803;20578990;21316111;21398406;20861157;16148;23599431;21695171;21349998;21627360;21730065;22472349;22525723;21655198;22300987;21857817;21906874;23039915;23070788;22180778;22232208;22070874;21778049;21986127;22457824;22531719;22524658;22152016;23352615;22088972;22173725;21963094;22736438;23000965;23244336;22956548;22645275;22745793;22978759;22987307 57007 P25106 ABBA01042574;AC079611;AF030297;AK291659;AMYH01011597;BC008459;BC036661;BM925428;BP426139;CH471063;DB455412;DQ822477;JA643399;JA643405;M64749;NM_020311;U67784;U73141 AAA62370;AAB16913;AAB18130;AAB94130;AAH36661;AAX93086;ABH01258;ABM82167;ABM85352;BAF84348;CCE67098;CCE67101;EAW71092;NP_064707;P25106 Hs.471751 1656853;2166969 RH78466;SHGC-57926 CMKOR1;CXC-R7;CXCR-7;CXCR7;GPR159;RDC-1;RDC1 C-X-C chemokine receptor type 7;CXC-R7;CXCR-7;G protein-coupled receptor;G-protein coupled receptor 159;G-protein coupled receptor RDC1 homolog;OTTHUMP00000164411;OTTHUMP00000203011;RDC-1;chemokine (C-X-C motif) receptor 7;chemokine orphan receptor 1 APPROVED protein-coding ENSG00000144476 23692 09882 610376 REVIEWED 1313002 ACN9 ACN9 homolog (S. cerevisiae) 7 7 7 q21.3 91439813 91504987 + 96584953 96649011 + 96745905 96811075 + 1580863;6480464 10103055;18163977;15489334;12853948;12690205;12477932;19913121;20628086;20877624 57001 F8W9V1;Q9NRP4 AACC02000013;ABBA01045754;AC073421;AC073900;AF201933;AMYH01017706;BC020621;BC022858;BC028409;CD557710;CH236949;CH471091;NM_020186 AAF86869;AAH20621;AAH22858;AAS07570;EAL24120;EAW76739;EAW76740;NP_064571;Q9NRP4 Hs.592269 1688606;1851020;2163992 D7S702;G17183;RH92173 DC11 OTTHUMP00000204979;protein ACN9 homolog, mitochondrial protein-coding ENSG00000196636 21752 16471 VALIDATED 10065 ACLY ATP citrate lyase ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.2 37276705 37328798 - 40023179 40075272 - 1304191;1300342;1580863;1300238;2317316;2317309;6480464;6907045 1371749;734904;704404;11735100;17882277 16751776;17353931;19461003;18922930;18681781;18660489;17081983;15592455;15489334;15302935;14702039;14681844;12477932;10653665;9116495;8088842;6801225;6109001;3305493;2176822;19019082;21145461;22787121;19296078;19795461;20615871;8944226;20558738;18029348;20800603;20877624;20693577;23314748;21454710;20811636;21832049;22863883;22718913;16196087;17955473;21081666;21726077;19380743;21853274;22053931;22505724;22797925;22318606;22586326;18781797;21139048;21890473;21906983;22102020;21320693;22266777;16009940;21628590;22657152 47 B4E3P0;K7EIE7;K7ESG8;P53396 AB210035;ABBA01006446;ABBA01006447;ABBA01006448;AC091172;AC125257;AK095084;AK295675;AK304802;AK312315;AMYH01008388;AMYH01008389;BC006195;BG037168;CH471152;DQ575356;NM_001096;NM_198830;U18197;X64330 AAB60340;AAH06195;ADZ15525;BAC04484;BAE06117;BAG58532;BAG65552;CAA45614;EAW60777;EAW60778;EAW60779;EAW60780;EAW60781;NP_001087;NP_942127;P53396 Hs.387567 1649425;1653211;1744147;1754031;2125868;2158744;2184349;2184417 D17S1205;D17S1209;D17S2155;GDB:392280;SHGC-11986;SHGC-132072;WI-19716;WI-20027 ACL;ATPCL;CLATP ATP citrate synthase;ATP-citrate (pro-S-)-lyase;ATP-citrate synthase;OTTHUMP00000164772;OTTHUMP00000164773;citrate cleavage enzyme APPROVED protein-coding ENSG00000131473 115 00155 108728 REVIEWED 1605748 ACOT1 acyl-CoA thioesterase 1 14 14 14 q24.3 33178727 33185623 - 73073681 73080251 + 74003928 74010498 + 6480464 16940157;16103133;12477932;20736409;22939629;18029348 641371 E9KL42;G3V4F2;Q86TX2 ABBA01030756;AC005225;AK300886;AMYH01005845;BC127747;BC127748;BC132889;BC132891;BC143042;BX161396;DQ082754;GU727640;NM_001037161 AAI27748;AAI27749;AAI32890;AAI32892;AAI43043;AAZ31236;ADU87641;BAG62528;CAD61883;NP_001032238;Q86TX2 Hs.568046 1653277;1740767;2110049;2112144;2116333;2138076;2138696 A002Q22;D14S1209;D14S1367;D14S646E;G35993;G38315;ZAP128_9204 ACH2;CTE-1;LACH2 CTE-I;CTE-Ib;OTTHUMP00000246588;OTTHUMP00000246589;acyl-coenzyme A thioesterase 1;inducible cytosolic acyl-coenzyme A thioester hydrolase;long chain acyl-CoA hydrolase;long chain acyl-CoA thioester hydrolase protein-coding ENSG00000184227 33128 614313 VALIDATED 10067 ACO1 aconitase 1, soluble The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 9 9 p21.1 32374650 32440830 + 32384601 32450834 + 1300343;1580863;1300239;6480464;6907045 734906;704405 22561531;1946430;1903202;16527810;16144863;1738601;18262302;17613866;17604281;17521334;17244191;17200797;17127713;16503547;16424901;16407072;16344560;15938636;15543932;15489334;15349772;15099026;12972614;12855587;12572667;12477932;12196178;11812787;11783942;10944468;10419470;9020582;8764614;8262977;2771641;2172968;22544036;17877204;19688112;19762596;19762597;20354189;8041788;20558735;20569198;20574843;20877624;21360641;21832049;22502979;22863883;22939629;17242182;18029348;16027165;22505724;22318606;22331484;21139048;21890473;21906983;21963094;22020773;15342556;23000965;23382691 48 P21399;Q5VZA6;Q9HBB2 AB209480;ABBA01065085;ABBA01065086;AF261088;AK057904;AK308752;AL161783;AMYH01019319;BC018103;BP287929;CH471071;DA103947;DA409113;DA780353;DQ496106;M58510;NM_001278352;NM_002197;Z11559 AAA69900;AAF99681;AAH18103;ABF47095;BAD92717;CAA77651;EAW58549;EAW58550;EAW58551;EAW58552;NP_001265281;NP_002188;P21399 Hs.567229 1653876;1715089;1763049;1774810 D9S1955;RH119496;RH70753;SHGC-146792 ACONS;IREB1;IREBP;IREBP1;IRP1 IRE-BP 1;OTTHUMP00000021176;OTTHUMP00000021177;aconitate hydratase;aconitate hydratase, cytoplasmic;citrate hydro-lyase;cytoplasmic aconitate hydratase;ferritin repressor protein;iron regulatory protein 1;iron-responsive element binding protein 1;iron-responsive element-binding protein;iron-responsive element-binding protein 1 APPROVED protein-coding ENSG00000122729 117 00013 100880 REVIEWED 736721 ACOT12 acyl-CoA thioesterase 12 5 5 5 q14.1 76530237 76594485 - 80661839 80725712 - 80625947 80689988 - 1300048;6480464;6907045 16951743;16103133;15489334;14702039;12767336;12477932;11322891;20379614;22863734 134526 Q5FWE9;Q8WYK0 AB078619;ABBA01062055;AC008411;AC010623;AK122960;AMYH01015445;BC075010;BC075011;BC089437;CH471084;NM_130767 AAH75010;AAH75011;AAH89437;BAB84022;BAG53821;EAW95874;EAW95875;NP_570123;Q8WYK0 Hs.591756 5093356 G32671 CACH-1;Cach;MGC105114;STARD15;THEAL OTTHUMP00000161980;START domain-containing protein 15;StAR-related lipid transfer (START) domain containing 15;acyl-CoA thioester hydrolase 12;acyl-coenzyme A thioesterase 12;cytoplasmic acetyl-CoA hydrolase 1;cytoplasmic acetyl-coa hydrolase;cytosolic acetyl-CoA hydrolase;hCACH-1 protein-coding ENSG00000172497 24436 16680 614315 VALIDATED 733187 ACO2 aconitase 2, mitochondrial The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008] 22 22 q13.2 40195075 40254939 + 41865129 41924993 + 1300344;1580863;1300048;2306877;6480464;6907045 734909;9712727 1946331;9630632;18029348;19405953;19110265;16625280;16598741;16236267;15952740;15489334;15461802;14972331;12746427;12477932;12198491;11258795;10591208;9020582;8443405;7192199;22405087;1602151;1052766;879710;752479;752478;752476;19524665;20607720;20877624;12601813;16159877;22939629;21832049;16713569;18781797;21139048;21890473;19738201;19805454;22623428;23000965 50 A2A274;Q99798 AA724140;ABBA01055639;ABBA01055640;ABBA01055641;ABBA01055642;AF093096;AK293562;AK296260;AK297213;AK301321;AK302691;AK314845;AL008582;AL023553;AMYH01012803;BC014092;BC026196;CH471095;CR456365;CR536568;NG_032143;NM_001098;U80040;U87926;U87927;U87928;U87929;U87930;U87931;U87932;U87933;U87934;U87935;U87936;U87937;U87938;U87939 AAB38416;AAC39921;AAD19351;AAH14092;AAH26196;ABM84600;ABM86762;BAG37362;BAG57034;BAG58973;BAG59696;BAG62870;BAG63920;CAG30251;CAG38805;CAK54363;CAK54662;EAW60435;EAW60436;NP_001089;Q99798 Hs.643610 1648242;1674500;1676051;1690041;1744321;1770293;2122822;2161054;2191721;5020337 A007B26;D22S1253;D22S678;D22S998E;GDB:451682;MARC_5597-5598:1044046898:1;RH11189;RH11380;RH47879;RH48483 ACONM;ICRD;MGC20605;MGC33908 OTTHUMP00000165920;OTTHUMP00000165921;aconitate hydratase, mitochondrial;citrate hydro-lyase;mitochondrial aconitase (nuclear aco2 gene) APPROVED protein-coding ENSG00000100412 118 00012 100850;614559 REVIEWED 1605006 ACOT4 acyl-CoA thioesterase 4 14 14 14 q24.3 54094503 54098556 + 73128163 73132223 + 74058410 74062470 + 6480464 16940157;18029348;16141203;16103133;15489334;14702039;12477932;10944470;10567408;7596406;20178365 122970 Q8N9L9 ABBA01030751;AC005225;AK055797;AK094223;AMYH01005845;BC031799;BC090945;BC117341;BC117343;BX248023;BX248047;CH471061;NM_152331 AAH31799;AAH90945;AAI17342;AAI17344;BAB71017;BAC04313;CAD62346;CAD62354;EAW81120;EAW81121;NP_689544;Q8N9L9 Hs.49433 2217868 PTE2B_3639 PTE-Ib;PTE1B;PTE2B OTTHUMP00000241252;PTE-2b;acyl-coenzyme A thioesterase 4;peroxisomal acyl coenzyme A thioester hydrolase Ib;peroxisomal acyl-CoA thioesterase 2B;peroxisomal long-chain acyl-CoA thioesterase Ib protein-coding 19748 17928 614314 VALIDATED 1317612 ACOT11 acyl-CoA thioesterase 11 This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 1 1 1 p32.3 53301456 53387997 + 54786489 54873005 + 55013807 55100417 + 6480464 11696000;16103133;15489334;14702039;12477932;9734811;8125298;20379614;16344560;19913121;20628086;20470824;22897136 26027 Q8WXI4 AB014607;ABBA01074711;ABBA01074712;AC099796;AF416921;AF416922;AK023937;AK091112;AK223570;AL590093;AL713723;AMYH01000636;AMYH01000637;AMYH01000638;AMYH01000639;AMYH01000640;BC001517;BC093844;BC093846;CH471059;DA121227;NM_015547;NM_147161 AAH01517;AAH93844;AAH93846;AAL40937;AAL40938;BAA31682;BAB14734;BAD97290;EAX06682;EAX06683;EAX06684;NP_056362;NP_671517;Q8WXI4 Hs.234786 1338206;1692222;1693232;2106719;2142480;5015881;5015961;5037552;5118576;7184044 AL033560;AL033766;D11S3430;D15S1477;D3S1611;D8S2279;GDB:335751;SHGC-74880;THEA__5252 BFIT;BFIT1;BFIT2;DKFZp667O1916;KIAA0707;STARD14;THEA;THEM1 OTTHUMP00000011526;OTTHUMP00000011527;START domain containing 14;StAR-related lipid transfer (START) domain containing 14;acyl-CoA thioester hydrolase 11;acyl-coenzyme A thioesterase 11;adipose-associated thioesterase;brown fat inducible thioesterase;brown fat-inducible thioesterase;thioesterase superfamily member 1;thioesterase, adipose associated APPROVED protein-coding ENSG00000162390 18156 07075 606803 REVIEWED 1605691 ACOT2 acyl-CoA thioesterase 2 This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 14 14 14 q24.3 54071870 54078454 + 73105525 73112112 + 74034324 74042362 + 1625728;2315862;2315861;6480464 16979414;15292030;17438340 17353931;10944470;16940157;19497300;16103133;15489334;15007068;14702039;12665801;12477932;8125298;7596406;20379614;20877624;21139048;21890473;21987572 10965 B3KSA0;P49753 ABBA01030752;AC005225;AI537078;AK001939;AK093131;AK223635;AMYH01005845;AY005822;BC004436;BC006335;BC006500;DQ082755;L40401;NM_006821;NR_046028 AAC42007;AAF97985;AAH04436;AAH06335;AAH06500;AAZ31237;ABM84414;ABM87405;BAA91989;BAD97355;BAG52662;NP_006812;P49753 Hs.446685 1653277;1740767;2110049;2112144;2112152;2116333;2138696 A002Q22;D14S1209;D14S1367;D14S1377;D14S646E;G38315;ZAP128_9204 CTE-IA;CTE1A;MTE1;PTE2;PTE2A;ZAP128 CTE-Ia;OTTHUMP00000246591;acyl-coenzyme A thioester hydrolase 2a;acyl-coenzyme A thioesterase 2, mitochondrial;long-chain acyl-CoA thioesterase 2;mitochondrial acyl-CoA thioesterase 1;mitochondrial acyl-CoA thioesterase 2;peroxisomal long-chain acyl-coA thioesterase 2 APPROVED protein-coding ENSG00000119673 18431 10173 609972 VALIDATED 1605747 ACOT6 acyl-CoA thioesterase 6 14 14 14 q24.3 54119631 54122671 + 73153301 73156345 + 74083548 74086592 + 6480464 16940157;16103133;12477932;21822266 641372 G3V3W6;Q3I5F7 ABBA01030750;AC005225;AMYH01005845;BC126378;BC126380;CH471061;DQ082756;NM_001037162 AAI26379;AAI26381;AAZ31238;ADR82840;EAW81122;NP_001032239;Q3I5F7 Hs.122038 2124845 G38172 C14orf42;MGC161656;MGC161658;c14_5530 OTTHUMP00000246593;putative acyl-CoA thioesterase 6;putative acyl-coenzyme A thioesterase 6 protein-coding ENSG00000205669 33159 614267 VALIDATED 1315172 ACOT13 acyl-CoA thioesterase 13 This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009] 6 6 6 p22.3 25900605 25938673 + 24775254 24809921 + 24667263 24705297 + 1580863;6480464 19405909;19170545;18095154;17704541;17045243;16934754;16344560;15489334;14702039;14574404;12477932;10931946;8889548;21319273;20877624;22939629;18624398;22262880;21139048 55856 Q9NPJ3 ABBA01066538;AF155649;AF220186;AF274952;AK000508;AK309738;AL031775;AMYH01016151;BC000894;BG568305;CB852340;CH471087;CS072377;DB214267;NM_001160094;NM_018473 AAF67006;AAF67651;AAH00894;AAK07529;BAA91215;CAI93515;EAW55460;NP_001153566;NP_060943;Q9NPJ3 Hs.731605 1657201;1670349;1735590;1792864;1792870;2133526;2164990 D6S1127E;D6S2130;PMC166143P4;PMC166143P7;RH36217;RH68224;STS-AA033712 HT012;MGC4961;PNAS-27;THEM2 OTTHUMP00000016090;acyl-coenzyme A thioesterase 13;hypothalamus protein HT012;thioesterase superfamily member 2 APPROVED protein-coding ENSG00000112304 20999 07158 REVIEWED 1606811 ACOT9 acyl-CoA thioesterase 9 The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X p22.11 27842554 27882190 - 23631698 23671328 - 23721777 23761407 - 6480464 16103133;14702039;12477932;10810093;10383425;20186120;18781797;20360068;22114354;21139048;21890473;21906983;22797925 23597 C9J7L8;F8WDI2;H7C5Q2;Q9Y305 ABBA01072215;ABBA01072216;ABBA01072217;ABBA01072218;ABBA01072219;ABBA01072220;ABBA01072221;ABBA01072222;AC093011;AC131011;AF132950;AF241787;AK000659;AK024337;AL548456;AMYH01022151;BC012573;BC136671;BC144360;BC144370;BX648512;CH471074;NG_016780;NM_001033583;NM_001037171 AAD27725;AAG44475;AAH12573;AAI36672;AAI44361;ADZ15671;BAG51291;EAW98997;EAW98998;NP_001028755;NP_001032248;Q9Y305 Hs.298885 1662408;5016478;5022578 D1S1423;GDB:434012;STS-W05354 ACATE2;CGI-16;MT-ACT48;MTACT48 OTTHUMP00000023065;OTTHUMP00000023068;OTTHUMP00000215275;OTTHUMP00000215276;acyl-CoA thioester hydrolase 9;acyl-Coenzyme A thioesterase 2, mitochondrial;acyl-coenzyme A thioesterase 9, mitochondrial;mitochondrial Acyl-CoA Thioesterase APPROVED protein-coding ENSG00000123130 17152 06438 300862 REVIEWED 70372 ACOT8 acyl-CoA thioesterase 8 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010] 20 20 q13.12 43903768 43919442 - 44470360 44486048 - 1580863;6480464 10092594;9153233;17624024;16940157;16335799;16141203;16103133;15489334;15194431;14702039;12477932;11780052;11755680;11549316;10944470;10807905;9299485;10799608;16756494;17314511;21139048;14709540;16009940;21824805;22190034 10005 E9PIS4;E9PJN0;E9PMC4;E9PRD4;F6VBM3;H0Y698;H7C5A7;O14734;Q9BR14 ABBA01052667;ABBA01052668;AF014404;AF124264;AK056668;AK292494;AK296973;AK298783;AL008726;AMYH01011939;BC117155;BC117157;BI911038;BM986979;CH471077;CR541771;CR541778;DB470803;NM_005469;X86032 AAB71665;AAD27616;AAI17156;AAI17158;ADR82946;BAF85183;BAG51780;BAG59516;BAG60922;CAA60024;CAG46570;CAG46577;EAW75794;EAW75795;EAW75796;EAW75797;EAW75798;NP_005460;O14734 Hs.444776 1678925;1848243;2118627;2152180 D20S569E;RH12567;RH71172;RH80960 HNAACTE;PTE-1;PTE-2;PTE1;PTE2;hACTE-III;hTE 4,8-dimethylnonanoyl-coa thioesterase;HIV-Nef associated acyl-CoA thioesterase;HIV-Nef-associated acyl-CoA thioesterase;OTTHUMP00000031675;OTTHUMP00000214962;PTE-1;acyl-coenzyme A thioesterase 8;choloyl-CoA hydrolase;choloyl-coenzyme A thioesterase;hACTEIII;long-chain fatty-acyl-CoA hydrolase;palmitoyl-CoA hydrolase;peroxisomal acyl-CoA thioesterase 1;peroxisomal acyl-coenzyme A thioester hydrolase 1;peroxisomal long-chain acyl-CoA thioesterase 1;thioesterase II;thioesterase III APPROVED protein-coding ENSG00000101473 15919 06998 608123 REVIEWED 1344840 ACOX1 acyl-CoA oxidase 1, palmitoyl The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 q25.1 71449183 71487039 - 73937588 73975515 - 1298651;1580863;6480464;7240710 8159712 8117268;7876265;18281296;18660489;18536048;17458872;17081983;16396496;16381901;15489336;15489334;14702039;12477932;11815777;11230166;11076863;10960480;10856712;8798738;8507686;8125298;8040306;7668838;1464743;17603022;16756494;20195242;22939629;17881773;21139048;22002062;20178365 51 I3L0T4;I3L2U4;I3L4S5;K7ELT1;K7ENF1;K7ESC7;Q16131 ABBA01028765;ABBA01028766;ABBA01028767;AC040980;AC087289;AK095501;AK225897;AK291793;AK292965;AK296409;AK300447;AK308218;AMYH01008635;AMYH01008636;BC008767;BC010425;BQ943492;BX537380;CH471099;DC297086;HB873087;HB882949;HB894278;HC930496;HC940358;HC951687;NG_008190;NM_001185039;NM_004035;NM_007292;S69189;U03254;U03268;U07866;X71440 AAA18595;AAA19113;AAA19114;AAB30019;AAH08767;AAH10425;BAF84482;BAF85654;BAG59073;BAG62169;CAA50574;CAD97622;CAL38034;CBF60587;CBF65740;CBF73135;CBU85830;CBU90611;CBU96027;EAW89349;EAW89350;EAW89351;EAW89352;NP_001171968;NP_004026;NP_009223;Q15067 Hs.464137 1651313;1668319;1722507;1743495;2106411;2153318;2153969;2169779;2171351;2172301;2172303;5015861;5016478;5016504;5020414;5020948;5021396;5109281;5117518;5117520;5117524;7185938 A005O17;ACOX1_4327;D10S16;D1S1425;G20374;G35510;G60178;GDB:313783;GDB:340951;GDB:434012;GDB:574052;GDB:574056;GDB:574062;GDB:574064;L17688;RH16305;RH16429;RH65536;SHGC-30509;SHGC-34016;SHGC-57116 ACOX;MGC1198;PALMCOX;SCOX AOX;acyl-CoA oxidase, straight-chain;acyl-Coenzyme A oxidase 1, palmitoyl;palmitoyl-CoA oxidase;peroxisomal acyl-coenzyme A oxidase 1;peroxisomal fatty acyl-CoA oxidase;straight-chain acyl-CoA oxidase APPROVED protein-coding ENSG00000161533 119 02030 264470;609751 REVIEWED 733878 ACOT7 acyl-CoA thioesterase 7 This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36 5438842 5568337 - 6246919 6376413 - 6324332 6453826 - 6480464 10578051;16713569;16710414;16103133;15731883;15592755;15489334;14702039;12477932;12435388;21110914;21319273;18029348;19305408;19724895;19851296;20198315;22863883;21044950;21139048;21890473;21906983;22053931;22505724 11332 B4DUX0;F5GWE2;K7EKP8;Q9Y540 AB074415;AB074416;AB074417;AB074418;AB074419;ABBA01035443;ABBA01035444;ABBA01035445;ABBA01035446;ABBA01035447;ABBA01035448;AK057168;AK289572;AK290097;AK291583;AK292202;AK300831;AL031847;AL031848;AL702662;AMYH01000211;AMYH01000212;BC017365;BG332214;BM807217;BQ067921;BT006888;BU594651;CH471130;D88894;NM_007274;NM_181864;NM_181865;NM_181866;U91316 AAB61211;AAH17365;AAP35534;BAA24350;BAC20174;BAC20175;BAC20176;BAC20177;BAC20178;BAF82261;BAF82786;BAF84272;BAF84891;BAG51874;BAG62482;EAW71527;EAW71528;EAW71529;EAW71530;EAW71531;EAW71532;NP_009205;NP_863654;NP_863655;NP_863656;O00154 Hs.126137 1341964;1679433;1730157;1732792;1740163;1757005;1759051;2110281;2112928;2136274;5017512;5023485 ACOT7;BACH_9265;D1S1250;D1S2335E;D1S253;D1S2531;D1S3703;RH91132;SHGC-144364;SHGC-151038;SHGC-74153;STS-W44582 ACH1;ACT;BACH;CTE-II;LACH;LACH1;MGC1126;RP1-120G22.10;hBACH CTE-IIa;OTTHUMP00000001410;OTTHUMP00000001413;OTTHUMP00000001414;OTTHUMP00000001415;OTTHUMP00000200492;OTTHUMP00000200493;acyl-CoA thioesterase 2;acyl-CoA thioesterase, long chain;brain acyl CoA hydrolase;cytosolic acyl coenzyme A thioester hydrolase;long chain acyl-CoA thioester hydrolase APPROVED protein-coding ENSG00000097021 24157 12517 602587 REVIEWED 735528 ACOX2 acyl-CoA oxidase 2, branched chain The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009] 3 3 3 p14.3 58504526 58536479 - 58465903 58497956 - 58490863 58522929 - 1580863;1300345;1300244;6480464;6907045 734910;704421 8943006;15489334;12477932;9070889;8993592;8387517;16756494;20379614;21343950;2079609 8309 C9J0G0;C9JY29;H7C4Q2;H7C4Y2;H7C573;Q99424 ABBA01024380;ABBA01024381;AC116036;AJ001541;AK298402;AK313512;AMYH01013229;BC033517;BC047700;BG698950;BI490007;CH471055;HB873093;HB882955;HB894284;HC930502;HC940364;HC951693;NM_003500;X95190 AAH47700;BAG36292;BAG60633;CAA64489;CAB65596;CBF60593;CBF65743;CBF73142;CBU85833;CBU90614;CBU96030;EAW65375;EAW65376;EAW65377;NP_003491;Q99424 Hs.444959 1663132;5017130 RH71302;SHGC-33100 BCOX;BRCACOX;BRCOX;THCCox 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase;3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase;OTTHUMP00000214196;OTTHUMP00000214197;THCA-CoA oxidase;acyl-Coenzyme A oxidase 2, branched chain;peroxisomal acyl-coenzyme A oxidase 2;peroxisomal branched chain acyl-CoA oxidase;trihydroxycoprostanoyl-CoA oxidase APPROVED protein-coding ENSG00000168306 120 09037 601641 REVIEWED 736892 ACOX3 acyl-CoA oxidase 3, pristanoyl Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008] 4 4 4 p15.3 8261321 8335759 - 8418909 8493352 - 8368009 8442452 - 1580863;1300048;6480464 9271077;16344560;15599942;15489334;15231748;12477932;8387517;8125298;20677014;16756494;20877624;21659360;20178365;8993592;21906983;22505724 8310 D6RJ89;O15254 ABBA01008698;ABBA01008699;AC104825;AK225080;AK313242;AMYH01013928;AMYH01013929;BC017053;CA306669;CH471131;DA949869;HB873065;HB882927;HB894256;HC930474;HC940336;HC951665;NM_001101667;NM_003501;Y11411 AAH17053;BAG36053;CAA72214;CBF60575;CBF65729;CBF73112;CBU85819;CBU90600;CBU96016;EAW82339;EAW82340;EAW82341;EAW82342;NP_001095137;NP_003492;O15254 Hs.479122 1652167;1658111;1766217;1766627;2110169;2142105;2142107;2143225;2161758;5107447 A002B29;D4S1188;D4S1213;G19895;G33926;G65142;SHGC-149580;SHGC-149925;SHGC-32080;st517p6-8d3 BRCACox;OTTHUMP00000115592;OTTHUMP00000217516;OTTHUMP00000219320;acyl-Coenzyme A oxidase 3, pristanoyl;branched-chain acyl-CoA oxidase;peroxisomal acyl-coenzyme A oxidase 3;pristanoyl-CoA oxidase APPROVED protein-coding ENSG00000087008 121 04552 603402 VALIDATED 1315641 ACOXL acyl-CoA oxidase-like 2 2 2 q13 105140860 105526394 + 111206680 111568392 + 111490150 111875799 + 1580863;6480464 21145461;18758461;15146197;14702039;12477932;19773279;20332261;20731705;21738478;22197929;22219177;22566634;22700719;23222517 55289 B4DU63;C9JQI3;H7C0A6;H7C2M3;H7C345;Q8TCE7 ABBA01001561;AC023131;AC096591;AC096670;AC114776;AK001904;AK300513;AMYH01010925;BC022268;BC131514;BX282060;CH471237;CN426904;CX788840;NM_001142807 AAH22268;AAI31515;AAY14796;AAY14838;AAY24074;BAA91970;BAG62225;EAW50357;EAW50358;EAW50359;EAW50360;NP_001136279;Q9NUZ1 Hs.253320 1700714;1727939;1757129;1762373;1784000;1784230;2135404;5494153 G63388;RH103981;SHGC-14171;SHGC-142669;SHGC-144565;SHGC-146201;SHGC-156035;fb58h05 FLJ11042 OTTHUMP00000161929;OTTHUMP00000204261;OTTHUMP00000225186;acyl-CoA oxidase-like protein;acyl-coenzyme A oxidase-like protein APPROVED protein-coding ENSG00000153093 25621 12418 VALIDATED 1317948 ACPT acid phosphatase, testicular Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 48344629 48349438 + 55985484 55990293 + 51293672 51298481 + 6480464;6907045 15219672;11414767 93650 Q9BZG2 ABBA01068298;AC010325;AF321918;AMYH01009945;CH471135;NM_033068 AAI40295;AAI46507;AAK09393;AAK09394;AAK09395;AAK09396;EAW71900;EAW71901;EAW71902;EAW71903;EAW71904;NP_149059;Q9BZG2 Hs.293394 testicular acid phosphatase APPROVED protein-coding ENSG00000142513 14376 06964 606362 REVIEWED 736505 ACPP acid phosphatase, prostate This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008] 3 3 q22.1 133518949 133560294 + 132036211 132087146 + 1300346;1300246;1580863;1300048;2301055;2301054;2301052;6480464;6907045 734913;704423;16024648;17991541;15240830 22354963;19403677;19108401;18940592;17638863;17455230;16076555;16004602;15985366;15862967;15578709;15280042;14690244;14623260;12962324;12719131;12525165;12477932;12362977;12032838;11983210;11833784;11784334;11739538;11547122;11377343;11067847;10851066;10639192;10506719;10477906;10452601;9804805;9708626;9705354;9584847;9187691;8407898;8244395;8132635;8110833;8037752;7951074;7923807;2965059;2842184;2712834;2411954;2395659;1989985;1699876;1696855;1375464;480493;76687;20392611;20645695;19301031;19636017;19759923;19902966;20379614;20498373;21487525;17658863;16196087;22082367;22090109;18083097 55 E9PFE6;H0Y8T3;P15309;Q5FBY0 AA578274;AB102888;ABBA01059186;ABBA01059187;AC020633;AK300540;AMYH01013501;AW136372;BC007460;BC008493;BC016344;BC017877;BQ100881;CH471052;DC383453;M24902;M34840;M97589;NM_001099;NM_001134194;U07086;U07097;X52174;X53605;X71391;X74961 AAA60021;AAA60022;AAA69694;AAB60640;AAH07460;AAH08493;AAH16344;AAH17877;ABM84074;ABM87442;BAD89417;BAG62248;CAA36422;CAA37673;CAA50514;CAA52913;EAW79201;EAW79202;EAW79203;EAW79204;EAW79205;NP_001090;NP_001127666;P15309 Hs.433060 1336743;1695276;1741345;1741521;1744475;2151056;2172319 D3S1596;G10726;GDB:180742;GDB:181274;GDB:455656;SHGC-62995;STS-M24902 5'-NT;ACP-3;ACP3;PAP 5'-nucleotidase;OTTHUMP00000216106;OTTHUMP00000216107;OTTHUMP00000216108;TMPase;ecto-5'-nucleotidase;prostatic acid phosphatase;prostatic acid phosphotase;thiamine monophosphatase APPROVED protein-coding ENSG00000014257 125 01378 171790 REVIEWED 1342803 ACPL2 acid phosphatase-like 2 3 3 3 q23 139374122 139436924 + 142433372 142496176 + 140950682 141013486 + 1580863;6480464 12975309;12477932;19893584;20379614;19734545;22505724 92370 B7Z3R9;B7Z4T2;D6R928;D6RDP0;D6RE60;D6RGE3;E9PDB7;Q8TE99;Q9NT50 ABBA01059048;ABBA01059049;AC022215;AC117383;AK074331;AK296292;AK297790;AK316121;AL137529;AMYH01013542;AY358460;BC035834;BC036701;BX647621;CA421956;CD101677;CH471052;NM_001037172;NM_152282 AAH35834;AAH36701;AAQ88825;BAB85053;BAH12305;BAH12668;BAH14492;CAB70793;EAW79007;EAW79008;EAW79009;NP_001032249;NP_689495;Q8TE99 Hs.657887 1773154;1784702;5113435 RH91992;SHGC-149506;STS-H57427 FLJ23751 OTTHUMP00000217721;OTTHUMP00000217722;OTTHUMP00000217723;OTTHUMP00000217724;OTTHUMP00000217725;OTTHUMP00000217726;acid phosphatase-like protein 2 protein-coding ENSG00000155893 26303 08675 VALIDATED 10071 ACP2 acid phosphatase 2, lysosomal This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Mutations in this gene or in the related alpha subunit gene cause acid phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] 11 11 p11.2 47217429 47226939 - 47260853 47270457 - 1300245;1580863;1300048;4892631;6480464;6907045 9228031;18690537 3191910;2776754;17357082;16344560;15489334;12477932;11801736;9110174;9040486;8619474;7576159;6970673;6651479;6193776;6164873;5410815;3904632;3160696;975882;730175;69583;19064571;22939629;16196087;21987572 53 B7Z6U3;B7Z7D2;E9PHY0;E9PKW9;E9PP23;E9PQW9;E9PQY3;F5GWV7;G5EA28;P11117 ABBA01060721;AC018410;AK298122;AK298439;AK299382;AK300569;AK300911;AK300931;AK301860;AK303894;AK308512;AK311431;AMYH01003541;AY007137;BC003160;BC093010;CH471064;DA382854;DC337294;NG_023296;NM_001131064;NM_001610;X12548;X15525;X15535 AAH03160;AAH93010;ABM83595;ABM86839;BAH12728;BAH12788;BAH13021;BAH13304;BAH13374;BAH13379;BAH13568;BAH14075;CAA31064;CAA33542;EAW67950;EAW67951;NP_001124536;NP_001601;P11117 Hs.532492 1682337;1686110;1712116;1742555;1847258;1847360;2156001 D11S4389;G54107;GDB:197878;RH18246;RH27367;RH27445;RH79156 LAP;OTTHUMP00000234497;OTTHUMP00000234498;OTTHUMP00000234499;OTTHUMP00000234584;OTTHUMP00000234586;OTTHUMP00000234587;OTTHUMP00000234588;OTTHUMP00000234663;acid phosphatase 2;lysosomal acid phosphatase APPROVED protein-coding ENSG00000134575 123 01375 171650;200950 REVIEWED 10069 ACP1 acid phosphatase 1, soluble The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008] 2 2 p25 254872 268283 + 264869 278283 + 1625289;1358577;1625288;1580863;1300048;2313182;2313184;2313187;2313188;2313186;2313179;2313180;2313183;6480464;6484113;6907045 12231445;12409270;15586390;12495297;9198310;8620937;11912546;19246900;17353188;15281007 12418966;12167657;12100313;11976341;11971983;11963573;11785295;11534018;11436564;11369750;10608891;10336608;9705307;9684876;9499402;9038134;8586411;8364553;4356849;4065897;1939112;1627603;1304913;736044;457131;16169070;1587862;17353931;19217450;18992867;18786445;18768081;18604186;18490013;18262048;17703100;17678914;17565542;17472574;17390764;17171650;16973312;16893901;16762482;16344560;16253994;16224193;16189514;16036221;15988697;15974295;15951569;15489334;15359537;15230135;14637146;12942785;12815062;12640337;12477932;12438242;20581655;19569002;19570551;19622628;19789510;20379614;20805743;10940933;19913121;20587610;20628086;18029348;20816195;19855922;20152999;23197232;23645747;21538645;22939629;22990118;21644204;21853274;22505724;22035742;22064183;21139048;21890473;21767392;21628590;22692348;21423239;21145461;21319273;22428720;19738201;22623428;22810585;22854047 52 B5MCC7;D3YTI2;F2Z2Q9;F2Z2R9;G5E9R5;P24666;Q59EH3 AB209838;ABBA01035631;AC079779;AK289934;AK291861;AMYH01010044;BC007422;BC020699;BC106011;BI460080;BJ992018;BT007136;BX481618;CH471053;DA378283;DB443811;L06508;M83653;M83654;M87545;NG_012035;NM_001040649;NM_004300;NM_007099;NR_024080;S62884;U25847;U25849;Y16846 AAB27085;AAB59354;AAB59355;AAB59628;AAC52067;AAH07422;AAI06012;AAP35800;AAY14958;ADZ15475;BAD93075;BAF82623;BAF84550;CAA76416;EAX01111;EAX01112;EAX01113;EAX01114;EAX01115;EAX01116;NP_001035739;NP_004291;NP_009030;P24666 Hs.558296 1680855;1688253;1694922;1742473;2177840;2182387;5022285 D2S2844;G44350;GDB:197514;RH1485;RH65054;RH67995;RH69188 HAAP;MGC111030;MGC3499 LMW-PTP;LMW-PTPase;OTTHUMP00000109538;OTTHUMP00000109539;OTTHUMP00000199909;OTTHUMP00000199910;OTTHUMP00000199911;OTTHUMP00000199914;OTTHUMP00000199915;acid phosphatase of erythrocyte;adipocyte acid phosphatase;cytoplasmic phosphotyrosyl protein phosphatase;low molecular weight cytosolic acid phosphatase;low molecular weight phosphotyrosine protein phosphatase;protein tyrosine phosphatase;red cell acid phosphatase 1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000143727 122 08881 171500 REVIEWED 10073 ACP5 acid phosphatase 5, tartrate resistant This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008] 19 19 p13.2 11546477 11549496 - 11685475 11689801 - 1300346;1580863;1300048;2315882;2315909;2315910;6480464;6907045 734913;19699734;19821772;19736603 2775236;19026169;19010793;18979172;18703035;18410226;18320034;18285546;18221403;18053985;17997709;17357281;17088078;16869970;16620768;16280328;16200454;15993892;15950921;15878315;15701839;15542543;15489334;15342556;12901871;12845688;12820342;12589973;12477932;12450668;12073156;12009023;11983200;10862785;10389595;9521821;8889548;8449511;8200916;8195113;8188227;8125298;2909539;2808373;2610679;2473026;2334436;1872798;16169070;8359686;2338077;21300043;20416078;18421493;19765782;17207965;20967488;20932965;21217752;21217755;22490295;21386798;21900206;22335021;22357739;22517558;22844067;21890473 54 K7EIP0;K7EJD9;K7ES19;K7ESF2;P13686 ABBA01029833;ABBA01029834;AC020947;AK225912;AK290717;AK307164;AMYH01009487;BC025414;BC111014;BM708166;BP367008;BX365007;CH471106;CR457078;FB775570;J04430;NG_028127;NM_001111034;NM_001111035;NM_001111036;NM_001611;X14618;X67123 AAA76849;AAH25414;AAI11015;ACE87273;ADQ32269;BAF83406;CAA32771;CAG33359;CAV30742;EAW84232;EAW84233;EAW84234;NP_001104504;NP_001104505;NP_001104506;NP_001602;P13686 Hs.1211 1681412;2125694;2160130;2190485;2218176 ACP5;ACP5__4244;G06617;G10515;RH93921 MGC117378;SPENCDI;TRAP TrATPase;acid phosphatase 5;tartrate-resistant acid ATPase;tartrate-resistant acid phosphatase type 5 APPROVED protein-coding ENSG00000102575 124 01374 171640;607944 REVIEWED 1314899 ACP6 acid phosphatase 6, lysophosphatidic 1 1 1 q21 121841363 121864830 + 145585792 145609258 - 147119168 147142634 - 1580863;6480464;6907045 10506173;17353931;16710414;15489334;15340161;15280042;14702039;12975309;12477932;12010880;9820827;16169070;17207965;20877624 51205 Q9NPH0 AB030039;AB031478;AB209248;ABBA01004401;ABBA01004402;AC241644;AK000657;AK308593;AK310693;AL359207;AL520992;AMYH01001226;AY358552;BC009965;BC011644;BC034686;CH471223;CR457101;NM_016361 AAH09965;AAH34686;AAQ88916;ADQ32397;BAA89311;BAA91310;BAA94309;BAD92485;CAG33382;CAI15199;EAW50931;NP_057445;Q9NPH0 Hs.562154 1677254;1722567;2125503 G60214;RH45458;RH93817 ACPL1;LPAP;PACPL1 OTTHUMP00000015904;acid phosphatase like 1;acid phosphatase-like protein 1;lysophosphatidic acid phosphatase type 6 protein-coding ENSG00000162836 29609 16472 611471 VALIDATED 736688 ACR acrosin Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008] 22 22 q13.33 49523518 49530593 + 51176652 51183727 + 1580863;6480464 1937464;6802470;6815104;15950652;10418103;3880736;10369396;12398221;16344560;15955892;15461802;12931362;12801583;12477932;11839395;11739644;11076863;10734459;6357995;2606479;2550339;2493394;2298447;2114285;1907596;1783391;1628652;15782160;7521127;15950651;22990118;22452365;23297503 49 E9PLV5;P10323 ABBA01042613;AC000036;AC002056;AK310316;AMYH01012924;AMYH01012925;CH471138;CR456366;DB054152;M77378;M77379;M77380;M77381;NM_001097;X54017;X66188;Y00970 AAA51572;AAA51573;AAA51574;AAA51575;AAI11594;CAA37964;CAA46956;CAA68784;CAG30252;CAK54364;CAK54663;EAW73587;EAW73588;NP_001088;P10323 Hs.370870 1690528;1742079;2171428 GDB:190905;RH38881;RH69180 OTTHUMP00000196479;acrosin;acrosin light and heavy chain prepropeptide;preproacrosin;proacrosin APPROVED protein-coding ENSG00000100312 126 06342 102480 REVIEWED 1344974 ACRBP acrosin binding protein The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 8364217 8373557 - 6617503 6626841 - 6747242 6756580 - 1580863;6480464 16301813;15489334;12477932;11248070;20876808;22651134 84519 E7EP66;F5H2C2;F5H3P4;F5H5S8;Q8NEB7 AB051833;ABBA01017650;AC135892;AF085884;AK302290;AK311572;AK312782;AMYH01004205;BC033010;CH471116;NM_032489 AAH33010;ABM81798;ABM84954;BAB39388;BAG35645;BAG63630;EAW88774;NP_115878;Q8NEB7 Hs.123239 1650712;1793912;1847235 G41278;PMC30645P1;SHGC-30262 CT23;FLJ51160;OY-TES-1;SP32 OTTHUMP00000239242;OTTHUMP00000239243;acrosin-binding protein;cancer/testis antigen 23;cancer/testis antigen OY-TES-1;proacrosin binding protein sp32 APPROVED protein-coding ENSG00000111644 17195 16322 608352 REVIEWED 1346265 ACRC acidic repeat containing X X X q13.1 71150915 71185673 + 70714986 70750158 + 70797874 70833433 + 1580863;6480464 16344560;14702039;11714101;12477932 93953 Q96QF7 ABBA01067759;ABBA01067760;ABBA01067761;ABBA01067762;ABBA01067763;ABBA01067764;ABBA01067765;ABBA01067766;ABBA01067767;AJ311392;AK097433;AK127607;AL590763;AMYH01022537;BC136259;CH471132;DB073623;NM_052957 AAI36260;BAC05051;BAG54533;CAC60255;EAX05284;NP_443189;Q96QF7 Hs.135167 2218970;5022578;5022651 ACRC__4245;D11S2921;D1S1423 NAAR1 OTTHUMP00000032171;OTTHUMP00000032172;acidic repeat-containing protein;putative nuclear protein protein-coding ENSG00000147174 15805 02298 300369 VALIDATED 1351105 ACRV1 acrosomal vesicle protein 1 This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 11 11 q24.2 125047439 125056152 - 125542229 125550793 - 1580863;6480464 1693291;15489334;12477932;11730901;8373955;8288254;8125298;7888499;7619499;2298314;1637938;21488928 56 AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;K4DI85;P26436 AB451476;ABBA01031239;AK223335;AMYH01004108;AP001132;BC014588;BG720361;BI826178;CH471065;DB446200;H93373;HC006756;M82967;M82968;NM_001612;NM_020069;NM_020107;NM_020108;S65576;S65578;S65583;S65606 AAA36625;AAA36626;AAB28238;AAB34927;AAB34928;AAB34929;AAB34930;AAB34931;AAB34933;AAB34935;AAB34936;AAH14588;BAD97055;BAG70290;CBH19184;EAW67648;EAW67649;EAW67650;EAW67651;EAW67652;EAW67653;EAW67654;EAW67655;EAW67656;EAW67657;EAW67658;EAW67659;NP_001603;NP_064454;NP_064492;NP_064493;P26436 Hs.169222;Hs.596575 1662302;2107811;2140209;2141028;2154146 ACRV1;ACRV1_8189;RH17743;STS-H93373;WI-7841 D11S4365;SP-10;SPACA2 OTTHUMP00000231310;OTTHUMP00000231311;OTTHUMP00000231312;OTTHUMP00000231313;acrosomal protein SP-10;sperm protein 10 APPROVED protein-coding ENSG00000134940 127 00014 102525 REVIEWED 733957 ACSBG1 acyl-CoA synthetase bubblegum family member 1 The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008] 15 15 15 q23-q24 55399717 55463412 - 76250242 76313954 - 78463187 78527049 - 6480464 19240061;15800013;14702039;14516277;12975357;12477932;11112418;10954726;9734811;9110174;8619474;20691247;20379614;15464426;16371355;21832049;21900206 23205 B3KNS7;B7Z2Y6;F5H4U6;H0YM34;H0YMC3;H0YMF5;H0YMH2;H0YMZ0;H0YNX0;Q96GR2 ABBA01060579;ABBA01060580;AC090260;AC090607;AF070624;AF179481;AK054882;AK294202;AK295269;AK299597;AK314508;AMYH01006831;BC009289;BC040252;CH471136;DC401742;HB881625;HC939034;NM_001199377;NM_015162 AAG09404;AAH09289;ABM87427;ABW03887;BAG37108;BAG51439;BAH11696;BAH12022;BAH13077;CBF65091;CBU89962;EAW99180;NP_001186306;NP_055977;Q96GR2 Hs.655760 1697488;1708542;2167084;2187458 RH102246;SHGC-58142;SHGC-85050;SHGC-9319 BG;BG1;BGM;FLJ30320;GR-LACS;KIAA0631;LPD;MGC14352;hBG1;hsBG OTTHUMP00000184909;bubblegum;hsBGM;lipidosin;lipodisin;long-chain-fatty-acid--CoA ligase ACSBG1;ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase;very long-chain acyl-CoA synthetase APPROVED protein-coding 29567 16549 614362 REVIEWED 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 19 19 19 p13.3 6074482 6131888 + 6086710 6144112 + 6135710 6193112 + 6480464 21145461;16762313;16371355;15685348;14702039;12975309;12477932;11230166;8125298;18029348 81616 K7EKE4;K7EL11;K7EMB4;K7ERT0;K7ESC8;K7ESF1;Q5FVE4 ABBA01055978;ABBA01055979;ABBA01055980;ABBA01055981;AC011471;AC104538;AJ577571;AK057412;AK093433;AK225862;AK302604;AL040604;AL136854;AMYH01009370;AY009107;AY358766;BC022027;BC090046;BI561348;CH471139;HC006758;NM_030924 AAG49398;AAH22027;AAH90046;AAQ89126;ABM81759;ABM84914;ACE86522;ACE87201;BAB71476;BAG52714;BAG63853;CAB66788;CAE12156;CAE12157;CBH19185;EAW69111;NP_112186;Q5FVE4 Hs.465720 1336112;1660818;1677690 D19S427;G09501;RH93117 BGR;BRGL;DKFZp434K1635;MGC111089;PRTD-NY3;PRTDNY3 BGR-like;bubblegum-related protein;long-chain-fatty-acid--CoA ligase ACSBG2 protein-coding ENSG00000130377 24174 09824 614363 VALIDATED 1604594 ACSF2 acyl-CoA synthetase family member 2 17 17 17 q21.33 44964815 45013493 + 45858518 45907199 + 48503519 48552200 + 6480464 17762044;16380219;12975309;12477932;8889548;8125298;20877624;21139048 80221 B4DFQ6;B4DHT5;B4DUF5;D6RF15;D6RF87;E7EN53;E9PF16;H0Y8N1;H0Y8Y5;Q96CM8 ABBA01041240;AC004707;AC021491;AK024573;AK225044;AK225561;AK294205;AK295258;AK300145;AK300625;AK308584;AMYH01008472;AMYH01008473;AY358660;BC012053;BC014123;CA945050;CH471109;DC384989;NM_025149 AAH12053;AAH14123;AAQ89023;BAB14930;BAG57517;BAG58247;BAG61931;BAG62317;EAW94612;NP_079425;Q96CM8 Hs.288959 1340247;1677108;1693504;2139210;2146995;2218376 CHAD_4562;D17S1869;G13356;RH18250;RH93333;SHGC-58381 ACSMW;AVYV493;FLJ20920 OTTHUMP00000221346;OTTHUMP00000221347;OTTHUMP00000221348;OTTHUMP00000221349;OTTHUMP00000221350;PPARG binding, long chain fatty acid acyl Co-A ligase like;acyl-CoA synthetase family member 2, mitochondrial protein-coding ENSG00000167107 26101 13380 610465 VALIDATED 1604214 ACSF3 acyl-CoA synthetase family member 3 This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 16 16 16 q24.3 74226564 74287794 + 87687825 87749670 + 89160217 89222171 + 6480464 17762044;18029348;16344560;16303743;14702039;12477932;20877624;21846720;21841779;22420028;21785126;21139048;21857022;23337955 197322 F5GX20;F5H2G6;F5H362;F5H3B2;F5H5A1;F5H755;H0YGC7;H0YGJ0;H0YH37;H3BTS0;Q4G176 ABBA01014163;ABBA01014164;AC009113;AC135782;AK075499;AK096561;AK290963;AMYH01007925;BC028399;BC064609;BC072391;BI837487;BM148793;BQ953430;BX325026;BX402632;CH471184;CR976321;CS051329;DA062861;HI573908;NG_031961;NM_001127214;NM_001243279;NM_174917;NR_023316;NR_045666;NR_045667 AAH28399;AAH64609;AAH72391;BAC11654;BAF83652;CAI72159;CBX47443;EAW66744;NP_001120686;NP_001230208;NP_777577;Q4G176 Hs.461727;Hs.720526 1683251;1684690 RH65209;RH79754 FLJ39242 OTTHUMP00000175346;OTTHUMP00000236558;OTTHUMP00000236559;OTTHUMP00000236605;acyl-CoA synthetase family member 3, mitochondrial;malonyl-CoA synthetase APPROVED protein-coding ENSG00000176715 27288 14117 614245;614265 REVIEWED 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 16 16 16 p12.3 19944784 20012792 - 20542060 20610079 - 20634559 20702578 - 1580863;6480464;6907045 18632593;18347602;15361761;14702039;12654705;12477932;11470804;19913121;20628086;20679960;20185149;20877624 116285 E5RFK0;H0YAU5;O75203;Q08AH1 AB059429;AB062503;ABBA01028285;AC003034;AC020926;AC141273;AK092574;AK314282;AMYH01007344;AMYH01007345;BC125177;BC125178;CH471228;NM_052956 AAC23498;AAI25178;AAI25179;BAB64535;BAB68363;BAG36941;EAW66826;EAW66827;EAW66828;NP_443188;Q08AH1 Hs.306812 1685383;1733702 D16S773;RH65225 BUCS1;MACS1;MGC150532 Butyrate CoA ligase;OTTHUMP00000162288;OTTHUMP00000226506;acyl-coenzyme A synthetase ACSM1, mitochondrial;butyrate--CoA ligase 1;butyryl-coenzyme A synthetase 1;lipoate-activating enzyme;medium-chain acyl-CoA synthetase;middle-chain acyl-CoA synthetase 1 protein-coding ENSG00000166743 18049 12551 614357 VALIDATED 1604361 ACSL5 acyl-CoA synthetase long-chain family member 5 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q25.1-q25.2 114123906 114178128 + 114133916 114188138 + 2317576;6480464 17762044 22163040;19218499;18806831;18228202;17761945;17681178;17495181;16198472;15809837;15736044;15489334;15292367;15164054;14608540;12975309;12477932;12147264;11707336;11319232;11127823;8125298;8944226;20470896;16385451;20379614;20877624;22171129;21890473;21906983;23348389 51703 B4DX30;Q9ULC5 AB033899;AB033920;ABBA01063005;AJ347687;AJ496489;AK000339;AK024932;AK222782;AK223288;AK301786;AK310436;AL157786;AL708480;AM262166;AMYH01003074;AMYH01003075;AY358520;BC007985;CD689921;CF595490;CH471066;CS248458;NM_016234;NM_203379;NM_203380 AAH07985;AAQ88884;ABM84192;ABM87595;BAA85979;BAA86054;BAG63242;CAC79123;CAD43000;CAJ56749;CAK18174;EAW49532;EAW49533;EAW49534;EAW49535;EAW49536;EAW49537;EAW49538;EAW49539;NP_057318;NP_976313;NP_976314;Q9ULC5 Hs.11638 1846901;1846903;1858163;2154742;2173193;2216980 A006J06;ACSL5_3592;D10S1429;G20863;RH47726;WI-12237 ACS2;ACS5;FACL5 FACL5 for fatty acid coenzyme A ligase 5;LACS 5;OTTHUMP00000020489;OTTHUMP00000020490;fatty acid coenzyme A ligase 5;fatty-acid-Coenzyme A ligase, long-chain 5;long-chain acyl-CoA synthetase 5;long-chain fatty acid coenzyme A ligase 5;long-chain-fatty-acid--CoA ligase 5 APPROVED protein-coding ENSG00000197142 16526 16139 605677 REVIEWED 1344693 ACSL4 acyl-CoA synthetase long-chain family member 4 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] X X q22.3-q23 108771220 108863277 - 108884564 108976621 - 1580863;2317576;6480464;7240710 17762044 9480748;9598324;18029348;19346733;18614287;18059177;17934335;16276108;15849811;15489334;15292367;15146197;15108178;12949969;12824887;12525535;12477932;11889465;11731423;10874125;9598718;1567471;8944226;10669417;19617635;20351714;21085606;21242590;21832049;22808264;22939629;15161933;19765186;21384559;14741744;18781797;21139048;21890473;21903867;21906983;22114354;21963094;21988832;23000965;19322201;22053931;22505724;22797925 2182 D6RD96;D6RDA8;D6RF95;D6RFW9;H0Y9A0;O60488;Q5JWV8 AB061711;AB061713;AB061714;ABBA01043470;ABBA01043471;ABBA01043472;ABBA01043473;ABBA01043474;ABBA01043475;ABBA01043476;ABBA01043477;ABBA01043478;ABBA01043479;ABBA01043480;ABBA01043481;AF030555;AK292070;AK294915;AK307566;AL118496;AL138968;AL590647;AMYH01022839;BC034959;BQ016115;CH471120;CN310691;DR004263;NG_008053;NM_004458;NM_022977;Y12777;Y13058 AAC17493;AAH34959;ABM81761;ABM84916;BAB86900;BAB86901;BAB88649;BAF84759;BAG58000;CAA73314;CAA73501;EAX02671;EAX02672;EAX02673;EAX02674;NP_004449;NP_075266;O60488 Hs.268785 1658096;1662078;1684918;1685592;1850672;2132133;5095076 ACSL4;AFM214ZE1;DXS6987E;DXS7039E;RH11026;RH80172;STS-N30273 ACS4;FACL4;LACS4;MRX63;MRX68 LACS 4;OTTHUMP00000023846;OTTHUMP00000216982;acyl-CoA synthetase 4;fatty-acid-Coenzyme A ligase, long-chain 4;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 4;long-chain fatty-acid-Coenzyme A ligase 4;long-chain-fatty-acid--CoA ligase 4 APPROVED protein-coding ENSG00000068366 3571 02152 300157;300387 REVIEWED 1342971 ACSL1 acyl-CoA synthetase long-chain family member 1 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. [provided by RefSeq, Jul 2008] 4 4 q35 185913743 185984209 - 185676749 185747215 - 70279;1625737;1625735;1625742;2317576;6480464 2341402;1543733;16788709;15811777;17762044 10548543;1531127;16054041;18660489;16834775;15489334;15292367;14702039;12477932;8889548;8584017;8399326;7948012;7490105;7429333;2973813;2007410;1607358;1599407;20176858;20877624;8944226;22990118;21139048;21890473;21906983;22797925;22829935 2180 B7Z3Z9;B7Z452;D6RER0;D6RG07;E7EPM6;H0Y9U7;H0Y9Z9;P33121 ABBA01070518;ABBA01070519;AC079257;AC084871;AK096117;AK292798;AK296550;AK296826;AK303486;AMYH01014768;AMYH01014769;BC026290;BC033479;BC050073;BG680610;BG773086;BI461964;BM982557;CH471056;D10040;DQ083028;DQ083029;HB881341;HC938750;L09229;NM_001995 AAB00959;AAH26290;AAH50073;AAZ30711;AAZ30712;BAA00931;BAC04704;BAF85487;BAG64522;BAH12385;BAH12438;CBF64949;CBU89820;EAX04662;EAX04663;EAX04664;EAX04665;NP_001986;P33121 Hs.406678 1656031;1772332;2116233;2161988;2216978;5015861;7185938 ACSL1_3367;Bdy94e02;D10S16;D4S3128;SHGC-50256;WI-20005 ACS1;FACL1;FACL2;LACS;LACS1;LACS2 LACS 1;LACS 2;OTTHUMP00000218456;OTTHUMP00000218457;OTTHUMP00000218460;OTTHUMP00000218461;OTTHUMP00000218462;OTTHUMP00000218465;acyl-CoA synthetase 1;fatty-acid-Coenzyme A ligase, long-chain 1;fatty-acid-Coenzyme A ligase, long-chain 2;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 1;long-chain acyl-CoA synthetase 2;long-chain fatty acid-CoA ligase 2;long-chain fatty-acid-coenzyme A ligase 1;long-chain-fatty-acid--CoA ligase 1;palmitoyl-CoA ligase 1;palmitoyl-CoA ligase 2;paltimoyl-CoA ligase 1 APPROVED protein-coding ENSG00000151726 3569 01068 152425 REVIEWED 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 12 12 12 p13.31 9032423 9056412 + 7348195 7372236 + 7456928 7480969 + 2317576;6907045;6480464 17762044 20877624 341392 P0C7M7 ABBA01012199;AC131205;AMYH01004214;NM_001080454 NP_001073923;P0C7M7 Hs.450804 OTTHUMP00000207043;acyl-coenzyme A synthetase ACSM4, mitochondrial protein-coding ENSG00000215009 32016 614360 PROVISIONAL 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B 16 16 p12.3 20455581 20495196 - 20548080 20587695 - 2317576;6480464;6907045 17762044 16521160;15221005;15122652;12616642;11415461;10434065;8934636;8884467;20679960;19634011 348158 H3BM61;H3BNJ9;H3BP39;H3BP79;H3BQ84;H3BRR3;H3BTX9;Q68CK6 AB073604;ABBA01028283;ABBA01028284;AC141053;AC141273;AK129944;AK289416;AK309601;AMYH01007341;AMYH01007342;AY160217;BC026010;DC329427;DC362610;DC362960;DC362964;DC412825;NM_001105069;NM_182617 AAI72335;AAO17576;BAD38642;BAF82105;NP_001098539;NP_872423;Q68CK6 Hs.298252;Hs.567879 1653796;1686736;1761895 RH70323;RH93768;SHGC-145832 ACSM2;HXMA;HYST1046 OTTHUMP00000162293;acyl-coenzyme A synthetase ACSM2B, mitochondrial;butyrate--CoA ligase 2B;butyryl-coenzyme A synthetase 2B;middle-chain acyl-CoA synthetase 2B;xenobiotic/medium-chain fatty acid-CoA ligase HXM-A;xenobiotic/medium-chain fatty acid:CoA ligase protein-coding ENSG00000066813 30931 17124 614359 VALIDATED 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A 16 16 16 p12.3 19617914 19631073 + 20370360 20406492 + 20462859 20498991 + 2317576;6480464;6907045 17762044 19345228;16344560;14702039;12477932;10493829;20877624;16521160;19634011 123876 B3KP75;E7EPS5;F5GWL3;F5H4B8;I3L2Y5;I3L339;I3L438;Q08AH3 ABBA01028283;AC003034;AC137056;AI340924;AK055867;AK091878;AK091978;AK096039;AK096132;AK298359;AK298434;AK303774;AMYH01007332;BC125175;BC125176;DA034571;DC362857;NM_001010845 AAC23497;AAI25177;BAC03784;BAG51587;BAG53201;BAG60655;BAH12766;BAH14046;NP_001010845;Q08AH3 Hs.298252;Hs.656497 1653796;1686736;1761895;2144150;5109281 D1S1425;RH70323;RH93768;SHGC-145832;SHGC-61386 A-923A4.1;ACSM2;FLJ34659;MGC150530 Homolog of rat kidney-specific (KS);acyl-coenzyme A synthetase ACSM2A, mitochondrial;butyrate--CoA ligase 2A;butyryl-coenzyme A synthetase 2A;middle-chain acyl-CoA synthetase 2A protein-coding ENSG00000183747 32017 17292 614358 VALIDATED 1349836 ACSL6 acyl-CoA synthetase long-chain family member 6 The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011] 5 5 q31 131317051 131375248 - 131285666 131347761 - 1599805;1599808;1580863;2315920;2317576;6480464 10502316;16428347;14622223;17762044 10548543;18804346;18718982;18555221;17567994;17030554;16834775;16827919;16806233;16572202;15292367;14702039;12477932;10048485;16344560;8944226;12767919;19064571;20379614;20429931;22205969;22412388;23128233 23305 B2RB13;B4DFW3;C9J3Z0;C9J4I1;C9J8C7;C9JK59;C9JPA5;C9JT10;E7ERD7;G3V1S9;Q9UKU0 AB020644;ABBA01068815;AC034228;AF099740;AF102845;AF129166;AK122702;AK294291;AK314452;AMYH01015612;AW952652;BC026161;BC047453;BI464352;BI545119;BI548729;BM992189;CH471062;DA200154;DA801862;DB461818;DQ083030;DQ083031;DQ655980;NG_028290;NM_001009185;NM_001205247;NM_001205248;NM_001205250;NM_001205251;NM_015256 AAD47199;AAH26161;AAH47453;AAZ30713;AAZ30714;ADZ15639;BAA74860;BAG37060;BAG53676;BAG57574;EAW62355;EAW62356;EAW62357;EAW62358;EAW62359;EAW62360;NP_001009185;NP_001192176;NP_001192177;NP_001192179;NP_001192180;NP_056071;Q9UKU0 Hs.14945 1643716;1761251;1770345;1798534;1799304;1800138;1800396;1800840;1801232;1801812;1801856;1801958;1802228;1803308;1803812;1804116;1805314;1806112;1806680;1806682;1807004;1807202;1807600;1808008;1808434;1808494;1808644;1809132;1809474;1809546;1810322;1810912;1811304;1812284;1812854;1812984;1813068;1813290;1813524;1813948;1814414;1816182;1816526;1816682;1817724;1818144;1818482;1819230;1819970;1820038;1820834;1821380;1821382;1821634;1822082;1822580;1825112;1825502;1825726;1826860;1827118;1827292;1828650;1829602;1830936;1831368;1834146;1834438;1834966;1836084;1838192;1840142;1841312;1842776;1994622;1994624;1994626;1994628;1994630;1994632;1994634;1994636;1994638;1994640;1994642;1994644;1994646;1994648;1994650;1994652;1994654;1994656;1994658;1994660;1994662;1994664;1994666;1994668;1994670;1994672;1994674;1994676;1994678;1994680;1994682;1994684;1994686;1994688;1994690;1994692;1994694;1994696;1994698;1994700;1994702;1994704;1994706;1994708;1994710;1994712;1994714;1994716;1994718;1994720;1994722;1994724;1994726;1994728;1994730;1994732;1994734;1994736;1994738;1994740;1994742;1994744;1994746;1994748;1994750;1994752;1994754;1994756;1994758;1994760;1994762;1994764;1994766;1994768;1994770;1994772;1994774;1994776;1994778;1994780;1994782;1994784;1994786;1994788;1994790;1994792;1994794;1994796;1994798;1994800;1994802;1994804;1994806;1994808;1994810;1994812;1994814;1994816;1994818;1994820;1994822;1994824;1994826;1994828;1994830;1994832;1994834;1994836;1994838;1994840;1994842;1994844;1994846;1994848;1994850;1994852;1994854;1994856;1994858;1994860;1994862;1994864;1994866;1994868;1994870;1994872;1994874;1994876;1994878;1994880;1994882;1994884;1994886;1994888;1994890;1994892;1994894;1994896;1994898;1994900;1994902;1994904;1994906;1994908;1994910;1994912;1994914;1994916;1994918;1994920;1994922;1994924;1994926;1994928;1994930;1994932;1994934;1994936;1994938;1994940;1994942;1994944;1994946;1994948;1994950;1994952;1994954;1994956;1994958;1994960;1994962;1994964;1994966;1994968;1994970;1994972;1994974;1994976;1994978;1994980;1994982;1994984;1994986;1994988;1994990;1994992;1994994;1994996;1994998;1995000;1995002;1995004;1995006;1995008;1995010;1995012;1995014;1995016;1995018;1995020;1995022;1995024;1995026;1995028;1995030;1995032;1995034;1995036;1995038;1995040;1995042;1995044;1995046;1995048;1995050;1995052;1995054;1995056;1995058;1995060;1995062;1995064;1995066;1995068;1995070;1995072;1995074;1995076;1995078;1995080;1995082;1995084;1995086;1995088;1995090;1995092;1995094;1995096;1995098;1995100;1995102;1995104;1995106;1995108;1995110;1995112;1995114;1995116;1995118;1995120;1995122;1995124;1995126;1995128;1995130;1995132;1995134;1995136;1995138;1995140;1995142;1995144;1995146;1995148;1995150;1995152;1995154;1995156;1995158;1995160;1995162;1995164;1995166;1995168;1995170;2095424;2095426;2095428;2095430;2095432;2095434;2095436;2095438;2095440;2095442;2095444;2095446;2095448;2095450;2095452;2095454;2095456;2095458;2095460;2095462;2095464;2095466;2095468;2095470;2095472;2095474;2095476;2095478;2095480;2095482;2095484;2095486;2095488;2095490;2095492;2095494;2095496;2095498;2095500;2095502;2095504;2095506;2095508;2095510;2095512;2095514;2155572;2168917;2169489;2216982;5022200 A006Y44;ACSL6_3557;ECD00105;ECD00500;ECD00925;ECD01058;ECD01283;ECD01488;ECD01787;ECD01809;ECD01860;ECD01997;ECD02550;ECD02815;ECD02976;ECD03604;ECD04010;ECD04297;ECD04298;ECD04467;ECD04567;ECD04772;ECD04982;ECD05198;ECD05229;ECD05304;ECD05555;ECD05729;ECD05765;ECD06153;ECD06454;ECD06650;ECD07149;ECD07440;ECD07506;ECD07553;ECD07665;ECD07783;ECD08001;ECD08236;ECD09131;ECD09305;ECD09384;ECD09915;ECD10128;ECD10302;ECD10682;ECD11056;ECD11091;ECD11493;ECD11774;ECD11775;ECD11903;ECD12127;ECD12378;ECD13657;ECD13859;ECD13971;ECD14545;ECD14674;ECD14761;ECD15452;ECD15932;ECD16604;ECD16820;ECD18221;ECD18367;ECD18634;ECD19203;ECD20268;ECD21255;ECD21852;ECD22595;HSC2DF112;L18426;REN68219;REN68220;REN68221;REN68222;REN68223;REN68224;REN68225;REN68226;REN68227;REN68228;REN68229;REN68230;REN68231;REN68232;REN68233;REN68234;REN68235;REN68236;REN68237;REN68238;REN68239;REN68240;REN68241;REN68242;REN68243;REN68244;REN68245;REN68246;REN68247;REN68248;REN68249;REN68250;REN68251;REN68252;REN68253;REN68254;REN68255;REN68256;REN68257;REN68258;REN68259;REN68260;REN68261;REN68262;REN68263;REN68264;REN68265;REN68266;REN68267;REN68268;REN68269;REN68270;REN68271;REN68272;REN68273;REN68274;REN68275;REN68276;REN68277;REN68278;REN68279;REN68280;REN68281;REN68282;REN68283;REN68284;REN68285;REN68286;REN68287;REN68288;REN68289;REN68290;REN68291;REN68292;REN68293;REN68294;REN68295;REN68296;REN68297;REN68298;REN68299;REN68300;REN68301;REN68302;REN68303;REN68304;REN68305;REN68306;REN68307;REN68308;REN68309;REN68310;REN68311;REN68312;REN68313;REN68314;REN68315;REN68316;REN68317;REN68318;REN68319;REN68320;REN68321;REN68322;REN68323;REN68324;REN68325;REN68326;REN68327;REN68328;REN68329;REN68330;REN68331;REN68332;REN68333;REN68334;REN68335;REN68336;REN68337;REN68338;REN68339;REN68340;REN68341;REN68342;REN68343;REN68344;REN68345;REN68346;REN68347;REN68348;REN68349;REN68350;REN68351;REN68352;REN68353;REN68354;REN68355;REN68356;REN68357;REN68358;REN68359;REN68360;REN68361;REN68362;REN68363;REN68364;REN68365;REN68366;REN68367;REN68368;REN68369;REN68370;REN68371;REN68372;REN68373;REN68374;REN68375;REN68376;REN68377;REN68378;REN68379;REN68380;REN68381;REN68382;REN68383;REN68384;REN68385;REN68386;REN68387;REN68388;REN68389;REN68390;REN68391;REN68392;REN68393;REN68394;REN68395;REN68396;REN68397;REN68398;REN68399;REN68400;REN68401;REN68402;REN68403;REN68404;REN68405;REN68406;REN68407;REN68408;REN68409;REN68410;REN68411;REN68412;REN68413;REN68414;REN68415;REN68416;REN68417;REN68418;REN68419;REN68420;REN68421;REN68422;REN68423;REN68424;REN68425;REN68426;REN68427;REN68428;REN68429;REN68430;REN68431;REN68432;REN68433;REN68434;REN68435;REN68436;REN68437;REN68438;REN68439;REN68440;REN68441;REN68442;REN68443;REN68444;REN68445;REN68446;REN68447;REN68448;REN68449;REN68450;REN68451;REN68452;REN68453;REN68454;REN68455;REN68456;REN68457;REN68458;REN68459;REN68460;REN68461;REN68462;REN68463;REN68464;REN68465;REN68466;REN68467;REN68468;REN68469;REN68470;REN68471;REN68472;REN68473;REN68474;REN68475;REN68476;REN68477;REN68478;REN68479;REN68480;REN68481;REN68482;REN68483;REN68484;REN68485;REN68486;REN68487;REN68488;REN68489;REN68490;REN68491;REN68492;REN68493;RH66391;SGC31129;SGC32042;SHGC-145256;stSG600946;stSG600947;stSG600948;stSG600949;stSG600950;stSG600951;stSG600952;stSG600953;stSG600955;stSG600956;stSG600957;stSG600958;stSG600960;stSG600961;stSG600962;stSG600963;stSG600965;stSG600966;stSG600967;stSG600968;stSG600969;stSG600970;stSG600971;stSG600972;stSG600973;stSG600974;stSG600975;stSG600976;stSG600977;stSG600978;stSG600979;stSG600980;stSG600981;stSG600982;stSG600983;stSG600984;stSG600985;stSG600986;stSG600987;stSG600988;stSG600989;stSG600990;stSG600991;stSG600992;stSG600993;stSG600994 ACS2;FACL6;FLJ16173;KIAA0837;LACS 6;LACS2;LACS5 OTTHUMP00000065952;OTTHUMP00000065953;OTTHUMP00000065954;OTTHUMP00000065955;OTTHUMP00000065957;OTTHUMP00000065958;OTTHUMP00000198259;OTTHUMP00000198261;fatty-acid-Coenzyme A ligase, long-chain 6;long fatty acyl-CoA synthetase 2;long-chain acyl-CoA synthetase 6;long-chain-fatty-acid--CoA ligase 6 APPROVED protein-coding ENSG00000164398 16496 09190 604443 REVIEWED 1602231 ACSL3 acyl-CoA synthetase long-chain family member 3 The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q34-q35 223433976 223516363 + 223725732 223808119 + 2317576;6480464 17762044 8663269;17220478;19221603;18003621;17901542;17761945;16354793;15556626;15489334;15302935;15292367;14702039;12477932;11707336;9177793;8889548;7987323;6240978;1848073;1433226;20605918;20308079;20219900;22357706;22586326;17379924;8944226;21328461;21832049;22939629;14741744;21252943;19765186;21139048;21890473;21903422;21906983;21987572;22190034;22505724;22797925 2181 B3KMA6;C9JC11;F5GWH2;F5H062;H7BYZ7;H7C260;O95573 AB061436;AB061712;ABBA01023805;ABBA01023806;ABBA01023807;ABBA01023808;AC013476;AC016712;AF116690;AI378485;AK001471;AK023191;AK314621;AMYH01011522;AMYH01011523;BC012066;BC032144;BC041692;BF679686;BG772246;BM971377;BQ435549;BX472576;CH471063;D89053;HB881571;HC938980;N44998;NM_004457;NM_203372 AAF71110;AAH32144;AAH41692;BAA37142;BAB72074;BAB72139;BAG37187;BAG50918;BAG51167;CBF65064;CBU89935;EAW70807;EAW70808;EAW70809;NP_004448;NP_976251;O95573 Hs.655772 1341355;1688010;1689907;1772934;2109025;2118795;2136366;2136399;2144639;2144811;2162935;7186162 A008B44;ACSL3_3368;D2S130;RH35858;RH65698;RH69969;RH80004;RH92846;SHGC-36164;STS-N59230;WI-21901 ACS3;FACL3;PRO2194 LACS 3;OTTHUMP00000164212;OTTHUMP00000203810;fatty-acid-Coenzyme A ligase, long-chain 3;lignoceroyl-CoA synthase;long-chain acyl-CoA synthetase 3;long-chain-fatty-acid--CoA ligase 3 APPROVED protein-coding 3570 03845 602371 REVIEWED 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 16 16 16 p12.3 19570305 19620803 + 20328357 20359791 + 20420856 20452290 + 6480464;6907045 17762044;12477932;11752456;20383146;20877624 54988 I3L536;Q6NUN0 ABBA01028280;ABBA01028281;AC137056;AK000588;AMYH01007329;AV648626;AV653851;AV696798;BC013753;BC016703;BC068516;BX505437;CH471186;NM_017888 AAH13753;AAH16703;AAH68516;BAA91273;EAW50317;EAW50318;EAW50319;NP_060358;Q6NUN0 Hs.659606 1847885;2153716 SHGC-56399;SHGC-6042 FLJ20581 OTTHUMP00000162289;acyl-coenzyme A synthetase ACSM5, mitochondrial protein-coding ENSG00000183549 26060 08627 614361 VALIDATED 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 16 16 p13.11 20682813 20715980 + 20775312 20808479 + 1579978;1601004;634023;2317576;6480464;6907045;7241281;7241282;7241283 11592044;17102796;8507454;17762044;21987487;14567496;12484505 7907320;19262474;19108963;18660489;18519841;18192838;17278971;17070428;15361761;12477932;12046348;11772874;11470804;11158418;10493829;8135833;8125298;7843754;19913121;20628086;20679960;19578796;20084102;20379614;20877624;16341674 6296 E7ETR5;H3BR33;H3BSM0;H3BT38;H3BTG0;H3BUF2;H3BV29;H3BVD5;Q53FZ2 ABBA01028286;AC004381;AK223139;AK290322;AK296122;AMYH01007345;BC002790;BI770558;BI826935;BM828310;BU170035;CA425752;CH471228;D16350;NM_005622;NM_202000;X80062 AAC31667;AAH02790;ABM83905;ABM87226;ABW03856;BAA03853;BAD96859;BAF83011;BAG58869;CAA56369;EAW66834;EAW66835;NP_005613;NP_973729;Q53FZ2 Hs.706754 1651177;1669992;1743819;1761229 GDB:374124;SHGC-145237;SHGC-60682;SHGC-60770 SA;SAH OTTHUMP00000162290;SA (rat hypertension-associated) homolog;SA hypertension-associated homolog;acyl-coenzyme A synthetase ACSM3, mitochondrial;butyrate--CoA ligase 3;butyryl-coenzyme A synthetase 3;middle-chain acyl-CoA synthetase 3;protein SA homolog;sa rat hypertension-associated homolog 2315775 GLUCO145_H protein-coding ENSG00000005187 10522 07033 145505 VALIDATED 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 12 12 12 q21.31 81138032 81316367 + 79995940 80173713 + 81471809 81649582 + 6480464;6907045 17762044;12477932;20379614 79611 F8VZB4;H0YII9;Q9H6R3 ABBA01053486;ABBA01053487;ABBA01053488;ABBA01053489;AC078920;AC078955;AC134506;AK025616;AK074267;AK074938;AMYH01004614;AMYH01004615;AX764480;AX764482;BC009317;BC015769;CH471054;HC890635;HC895167;NM_024560 AAH09317;AAH15769;BAB15190;BAC11304;CAE00104;CAE00105;CBN59805;CBN62022;EAW97372;EAW97373;NP_078836;Q9H6R3 Hs.259559 1698720;1749769;1777800;1788960;2120388 G65555;RH102920;RH1603;RH46043;SHGC-111519 FLJ21963 AMP-binding enzyme, 33217;OTTHUMP00000243129;OTTHUMP00000243130;OTTHUMP00000243131;acyl-CoA synthetase short-chain family member 3, mitochondrial protein-coding ENSG00000111058 24723 13385 614356 VALIDATED 1349890 ACTBP1 actin, beta pseudogene 1 X p11.3 46147449 46148563 - 3837182 61;643309 ABBA01052189;AL034402;AMYH01022248;NG_022596 pseudo 134 INFERRED 1353115 ACTBP10 actin, beta pseudogene 10 14 q11.2 19987119 19988846 - 446207 AL589182;NG_032756 pseudo 31819 INFERRED 1314754 ACSS1 acyl-CoA synthetase short-chain family member 1 This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 20 20 20 p11.23-p11.21 25060679 25113427 - 24934873 24987616 - 24986866 25038818 - 1580863;2317576;6480464;6907045 17762044 11214971;15489334;14702039;12477932;11780052;11347906;11150295;20877624;16788062;19535340;19724895;19851296;20198315;20379614;19617323;20125193 84532 Q1RMZ4;Q5TF43;Q6ZV30;Q8N234 AB058749;ABBA01048732;AK024396;AK024424;AK027817;AK090851;AK092295;AK094414;AK125058;AK125923;AK127566;AK296306;AK314440;AL035661;AL080312;AL832939;AL833041;AMYH01011788;AW024920;BC032076;BC039261;BC044588;BC055008;BC114612;BM150326;CH471133;DC404033;NM_001252675;NM_001252676;NM_001252677;NM_032501 AAH39261;AAH44588;AAH55008;AAI14613;BAB15714;BAB47475;BAB55390;BAC03530;BAC03853;BAC86035;BAG54524;BAG59005;CAH56303;CAH56320;EAX10106;EAX10107;EAX10108;EAX10109;EAX10110;EAX10111;NP_001239604;NP_001239605;NP_001239606;NP_115890;Q9NUB1 Hs.529353 1662476;1672854;1694714;1777019;5037552 AL030974;D20S1043;D8S2279;G43548;WI-11267 ACAS2L;ACECS1;AceCS2L;FLJ45659;MGC33843 OTTHUMP00000030470;acetate--CoA ligase 2;acetyl-coenzyme A synthetase 2-like, mitochondrial APPROVED protein-coding ENSG00000154930 16091 12413 614355 REVIEWED 2293113 ACTBP11 actin, beta pseudogene 11 1 1 1 q41 197207139 197208548 - 222118051 222119176 - 224051228 224052637 - 644220 ABBA01008153;AC096542;AMYH01001762;NG_007577 1793664;1794978;1794984 PMC24644P5;PMC86650P1;PMC86716P1 pseudo 33971 INFERRED 1347270 ACTBP12 actin, beta pseudogene 12 1 1 p21 90940994 90941434 - 92694573 92695013 - 1692956;1692956 100462767 ABBA01045550;AL451010;AMYH01000796;NG_026958 ACTGP5 APPROVED pseudo 150 INFERRED 7240981 ACTBP14 actin, beta pseudogene 14 10 q22.1 70782534 70783622 + 389976 ABBA01019597;AL359844;AMYH01002806;NG_022182 pseudo 45086 INFERRED 7176820 ACTBP13 actin, beta pseudogene 13 3 p21.31 49910778 49914739 - 389120 ABBA01024571;AC105935;AMYH01013163;NG_028183 pseudo 44626 INFERRED 1344030 ACTBP2 actin, beta pseudogene 2 5 5 5 q14.1 72974637 72976430 + 77116298 77118277 + 77080627 77082421 + 6571702;3837182;23650840 62 ABBA01061984;AC035147;AMYH01015428;NG_003019 1728921;1793046;1793732;1794552;1794984;2190487 ACTB-L;Actb-rs1;PMC193670P1;PMC26753P1;PMC317352P1;PMC86716P1 pseudo 135 INFERRED 1353051 ACTBP3 actin, beta pseudogene 3 18 q21.33 57360278 57360705 - 3837182 63 ABBA01056169;AC010776;AMYH01009040;NG_032175 pseudo 136 INFERRED 1603843 ACTBL2 actin, beta-like 2 5 5 5 q11.2 53730699 53733492 - 56811600 56814393 - 56775843 56778636 - 6480464 16824795;12477932;21145461;22562506;22863883;19156129;20086096;22266860;21110914;22178446;19471022;21139048;21693764;21906983;22219177;20473970;21628590;17203973;20876399;22505724 345651 Q562R1 ABBA01015777;AC025470;AMYH01015100;AY970384;AY970433;AY970451;AY970452;BC137470;BC137473;BX648504;CH471123;NM_001017992 AAI37471;AAI37474;AAX82193;AAX82242;AAX82259;AAX82260;EAW54967;NP_001017992;Q562R1 Hs.482167 5023529 PMC305873P2 ACT;DKFZp686D0972 OTTHUMP00000221904;actin-like protein;beta-actin-like protein 2;kappa-actin;similar to riken cdna 4732495g21 gene protein-coding ENSG00000169067 17780 18598 614835 VALIDATED 1313544 ACSS2 acyl-CoA synthetase short-chain family member 2 This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 20 20 20 q11.22 30211860 30264862 + 32926406 32979423 + 33462766 33515769 + 1580863;2317576;6480464;6907045 17762044 10843999;15231747;18029348;18660489;16788062;16344560;15489334;14702039;12477932;11780052;19913121;20628086;19617323;20416077;20353815;21890473;21906983 55902 B4DEH9;C9IYL0;C9J7L5;C9JXD9;C9JY31;E7EWU3;F8WBQ7;F8WC73;F8WCJ4;F8WDJ9;Q4G0E8;Q6DKJ3;Q96FY7;Q9NR19 ABBA01019175;AF263614;AI674262;AK000162;AK000188;AK022608;AK025990;AK092281;AK098026;AK293634;AL049709;AL133324;AL359946;AMYH01011867;BC010141;BC012172;BC073846;BC098422;CH471077;CR749716;DA411343;DA626707;DA628275;DA630609;NG_011520;NM_001076552;NM_001242393;NM_018677 AAF75064;AAH10141;AAH12172;AAH73846;AAH98422;BAB14127;BAC03849;BAG53564;BAG57090;CAH18485;EAW76242;EAW76243;EAW76244;EAW76245;EAW76246;EAW76247;EAW76248;NP_001070020;NP_001229322;NP_061147;Q9NR19 Hs.517034 1340980;2128026;2218174;7185359 ACAS2__4238;D20S106;D20S532E ACAS2;ACECS;ACS;ACSA;DKFZp762G026;dJ1161H23.1 OTTHUMP00000030713;OTTHUMP00000030717;acetate thiokinase;acetate--CoA ligase;acetate-CoA ligase;acetyl-coenzyme A synthetase, cytoplasmic;acyl-activating enzyme;cytoplasmic acetyl-coenzyme A synthetase APPROVED protein-coding ENSG00000131069 15814 605832 REVIEWED 1350369 ACTBP4 actin, beta pseudogene 4 5 5 5 q31.1 127124422 127126184 - 131021936 131023877 - 130994133 130995892 - 3837182 64 ABBA01068821;AC008695;AMYH01015612;NG_003020 pseudo 137 INFERRED 1345201 ACTBP6 actin, beta pseudogene 6 8 8 q21.2 81865138 81866904 + 85860744 85862510 + 66 ABBA01004019;AC091175;AMYH01018833;M55014;NG_008793 H8-PSI-BETA-AC3 pseudo 139 INFERRED 1348315 ACTBP5 actin, beta pseudogene 5 65 138 737580 ACTA1 actin, alpha 1, skeletal muscle The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008] 1 1 q42.13 227633615 227636466 - 229566992 229569843 - 1298659;1598720;1300347;1300247;1559154;6480464;7240710 10072583;16452123;734918;704397;12921789 20716950;12857853;12721663;12714565;12665555;12571245;12534372;12480535;12477932;12475945;12466270;12417594;12388543;12383268;12210873;12163017;12127568;12119014;12048248;12044158;12033495;12006649;11969288;11950878;11889126;11877456;11850458;11839310;11821948;11812134;11795944;11707283;11702052;11701614;11583571;11580270;11536049;11524436;11481347;11468283;11461920;11438522;10508519;12849983;11333380;15198992;19389844;19383239;19150851;19002257;18976909;18461503;18063690;17387733;16945536;16916647;16427282;15679046;15520409;15507486;15489334;15468086;15454575;15336687;15236405;15152255;15107502;15072110;14702039;14684598;14668487;14640694;14576350;14506234;11429692;11415434;11309382;11259305;11171322;11166164;11106625;11090452;11071908;11053353;11027608;11018051;10984435;10958653;10882740;10793131;10666339;10628374;10601340;10583954;10581178;10575001;10564664;10559237;10438535;10366597;10224093;9852149;9832551;9792688;9724539;9668039;9645951;9512503;9490638;9417078;9298982;9251807;9214391;9199170;8999969;8612804;8567732;8422497;8413665;8258301;7908614;7908020;7820861;7816144;7780165;7703225;7680654;7503723;6893424;6865942;6190133;3842206;3793760;2936753;2907503;2455687;2395459;2161834;1808202;1544421;1383230;1074709;648524;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;11297527;11441066;12438125;12417592;8416954;9153421;17010111;10806479;15149849;11897493;10320340;12062430;12577067;12695497;14507647;15059972;14594945;14592989;14634002;10491393;11691822;12384700;14688263;9695962;12438242;15494313;12554937;17620599;21912905;20332100;21145461;21319273;21764995;20169155;20630939;1423520;17082770;19233165;19562689;19634497;19635823;19819966;19934221;19948975;20100475;20201926;20378355;20388088;7642559;11102443;11687588;15772115;16751776;20452215;16568092;20809254;20179953;16501887;20686692;20718862;20826790;21108927;21385873;21079800;22863883;14532270;18662664;19553474;17573780;21464227;21340023;21723825;14966270;21151833;21203488;16051665;21931536;17360745;17411366;17504171;18443296;18775311;19380743;19454010;19639585;19710135;19883584;20147394;21199870;21606541;21917091;21923909;22004035;22017400;22028271;22362758;22465675;22505724;22535526;22537596;22989508;8395021;20301436;21691712;21975552;18781797;21514153;21987572;22031939;17203973;17194691;21139048;21906983;21994736;22209233;23176180;20305087;22081313;14690596;16009940;17361185;21824169;20301465;23420843;15558034;16461343;17194709;17266347;19805454;20639865;20972266;21080425;21890473;21963094;22053931;23000965;23071671;23246001;14676314;23174700;23656990;8399167;20391533;23042265;23106098;23190606 58 A6NL76;P68133;Q5T8M7;Q5T8M8 ABBA01009822;AF182035;AK096902;AK300697;AL160004;AL598491;AMYH01001809;AMYH01001810;AY280960;BC012597;BX648545;CH471098;CR536516;CR541796;J00068;M20543;NG_006672;NM_001100 AAA60296;AAB59376;AAF02694;AAH12597;AAP37280;ABM83875;ABM87196;BAG53395;BAH13327;CAG38754;CAG46595;EAW69898;NP_001091;P68133 Hs.1288 1667201;2106947;2113634;5019357;5023519 ACTA1_3134.2;PMC110143P1;PMC23952P1;RH36158;UniSTS:478947 ACTA;ASMA;CFTD;CFTD1;CFTDM;MPFD;NEM1;NEM2;NEM3 OTTHUMP00000036123;OTTHUMP00000037464;OTTHUMP00000037465;actin alpha 1;actin, alpha skeletal muscle;alpha skeletal muscle actin;alpha-actin-1;nemaline myopathy type 3 APPROVED protein-coding ENSG00000143632 129 00030 102610;161800;255310 REVIEWED 1348351 ACTA2 actin, alpha 2, smooth muscle, aorta The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 10 10 q23.3 90684811 90702491 - 90694831 90751147 - 1298662;6480464;6484113;7240710 2398629 22395512;22543453;21496259;19285011;19261809;17994018;17786474;17626241;16289162;16115228;16051665;15862967;15588509;15555551;15489334;15342556;15164054;12477932;12119014;11812134;11707283;11580270;11037796;10628374;10341211;9546431;9512352;8138584;7780165;6725286;6330528;3842206;2701935;2612915;2295650;2022339;1969628;1939373;1555776;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;14530271;20694011;14627618;15032605;16385451;16548883;16573163;19409525;19639654;19654303;19683985;19745835;19788615;20128380;20237496;20381122;20689142;20734336;22460095;19913121;20628086;21248741;12355421;22939629;21288906;21212136;21233699;20132408;21477997;21530503;21612641;21617610;21131735;12777385;21553326;20618440;17360745;17411366;17504171;18443296;18775311;19639585;19883584;20147394;20876399;21917091;21923909;22004035;22465675;22479424;22505724;22535526;22989508;17464107;19531499;21343850;23020218;23068445;21906983;21963094;18781797;20639865;20970362;21815248;21937873;22232431;18468998;20628268;21628590;22001912;22133903;20301299;21996542;22138123;21145461;22831780;15618548;20972266;21139048;21890473;21987572;22053931;22810585;23000965;23246001;22946110;22960022;22790431 59 D2JYH4;F6QUT6;F6UVQ4;P62736 ABBA01021950;ABBA01021951;AK300664;AK313294;AL157394;AMYH01002933;AMYH01002934;AY692464;BC017554;BC093052;BP379410;BQ029841;CH471066;CR536518;D00618;DC304647;DC354672;DC385559;GU143396;J05192;K01741;K01742;K01743;K01744;K01745;K01746;K01747;M33216;NG_011541;NM_001141945;NM_001613;X13839 AAA51577;AAA51586;AAA60560;AAH17554;AAH93052;AAW29811;ABM83317;ABM86532;ACZ58370;BAA00492;BAG36101;BAG62350;CAA32064;CAG38756;EAW50153;EAW50154;EAW50155;NP_001135417;NP_001604;P62736 Hs.500483 1742219;1761389;1778885;1789048;1797064;2120953;2154281;2160554;2166095;5023519 ACTA2_(5);D10S2177;G65659;GDB:193855;PMC23952P1;RH44176;RH45184;SHGC-145404;SHGC-30457;SHGC-30908 AAT6;ACTSA;MYMY5 OTTHUMP00000020042;actin, aortic smooth muscle;alpha 2 actin;alpha-actin-2;alpha-cardiac actin;cell growth-inhibiting gene 46 protein;growth-inhibiting gene 46 APPROVED protein-coding ENSG00000107796 130 00031 102620;611788;613834;614042 REVIEWED 1351732 ACTBP7 actin, beta pseudogene 7 15 15 15 q15.3 21170156 21171943 - 42068454 42069774 - 44280676 44282463 - 1298666 6296793 6571702 67 ABBA01039218;AC090516;AMYH01006607;NG_002724;V00479 pseudo 140 INFERRED 1346494 ACTBP9 actin, beta pseudogene 9 18 18 q21.33 56828402 56830193 + 60109157 60110948 + 1298670 8941379 69 ABBA01056193;AC100843;AMYH01009048;D50604;NG_003162 pseudo 142 INFERRED 1348995 ACTBP8 actin, beta pseudogene 8 6 6 6 q15 89403116 89404729 - 89042098 89043958 - 88985179 88986792 - 1298666 6296793 9345905;6571702;1561114;20339536 68 ABBA01040517;AL139042;AMYH01016498;NG_000840;V00481 1741823;1741853 GDB:185264;GDB:185752 ACTBP2 pseudo 141 INFERRED 7174869 ACTG1P12 actin, gamma 1 pseudogene 12 3 12111725 12112860 + 100418921 ABBA01025208;AC026166;AMYH01012982;NG_025675 pseudo 44496 INFERRED 1349704 ACTG1P10 actin, gamma 1 pseudogene 10 X X X p11.22 57001421 57002329 - 53188800 53189908 - 53170870 53173166 - 6592095 83 ABBA01056377;AL139396;AMYH01022420;NG_003039 1791616;2218708 PMC117352P1;RI01350 ACTGP10;ACTL1;ACTP1 APPROVED pseudo 155 INFERRED 1345992 ACTG1P1 actin, gamma 1 pseudogene 1 3 3 3 q23 137635491 137637432 + 140695273 140697223 + 139212582 139214524 + 8941379 73 ABBA01059063;AC097103;AMYH01013538;D50658;M55082;NG_001068 ACT1GP1;ACTGP1;HY-psi-gamma-AC6 APPROVED pseudo 146 INFERRED 3207729 ACTG1P11 actin, gamma 1 pseudogene 11 Y Y q11.221 18769084 18770992 + 20309696 20311604 + 9847074 414754 AC024183;NG_004636 2188611 G66357 pseudo 37651 VALIDATED 1342717 ACTG1P2 actin, gamma 1 pseudogene 2 Y Y q11 18377471 18379572 - 19868077 19870178 - 12815422;9847074 74 ABBA01007791;AC007742;NG_004636 2188611 G66357 ACTGP2;ACTL2 APPROVED pseudo 147 VALIDATED 1342857 ACTG1P9 actin, gamma 1 pseudogene 9 6 6 6 p12.3 47725200 47726849 + 46280607 46282257 + 46172649 46174298 + 8941379 82 ABBA01050622;AL035701;AMYH01016326;D50659;NG_001069 ACTGP9 APPROVED pseudo 154 INFERRED 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 151 1351647 ACTG1P3 actin, gamma 1 pseudogene 3 20 20 20 p13 1237490 1238977 + 1089128 1090441 + 1141154 1142641 + 1298670 8941379 10978293;3748813 75 ABBA01053766;AF196978;AF196979;AL031665;AMYH01011662;D50657;NG_000842;X04224 ACTGP3;dJ545L17.4 APPROVED pseudo 148 INFERRED 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 152 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 153 1349352 ACTG1P4 actin, gamma 1 pseudogene 4 1 p21.1 104112026 104114013 + 1692956;1692956;2458567 648740;76 Q6YL44 ABBA01045412;AC105272;AMYH01000842;AY129015;NR_024438 AAM98758 Hs.721681 1741403;5019379 GDB:181084;PMC133998P8 ACTGP4 APPROVED pseudo 149 VALIDATED 1348277 ACTL4 actin-like 4 84 158 1345012 ACTL5 actin-like 5 1406950 85 159 735801 ACTB actin, beta This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008] 7 7 p22 5533312 5536747 - 5566779 5570232 - 1298665;1300347;5147998;6480464;6907045;7240710 1505215;734918;11226670 7821789;17502619;17342765;6202424;16130169;19377461;10966108;19538885;19475567;19451231;19309309;18533937;18364388;18261463;17939680;17651734;17548472;17373842;17181997;16824795;16762366;16685646;16549430;16536728;16375898;16289162;16210567;16189514;16148048;16146415;16021519;15952740;15940343;15897890;15862967;15711563;15673434;15592455;15574586;15556561;15555571;15527767;15489334;15231748;15111311;15101111;15009185;15009096;14966270;14760703;14702039;14634002;14623863;14592989;12963728;12853948;12704194;12673016;12670476;12665801;12591166;12547197;12522145;12477932;12470643;12456645;12435603;12388067;12080081;12062430;12029088;12009869;11983702;11964161;11955010;11950878;11950601;11940582;11937625;11854414;11846445;11832213;11812134;11790298;11787062;11721045;11709093;11707406;11696420;11691822;11673475;11580269;11579089;11563969;11535601;11533442;11532003;11415434;11373276;11350761;11326315;11257002;11238447;11078522;11029056;11027608;10945978;10866806;10851017;10833443;10792467;10787407;10773068;10748209;10683146;10677499;10604479;10601251;10600384;10470109;10470015;10411937;10403844;10381382;10078207;10074138;10049817;9971772;9848710;9848085;9847074;9845365;9813091;9739080;9686908;9676236;9563518;9525888;9487115;9463375;9359436;9295142;9268132;9252372;9209005;9150887;9108196;9013719;8941379;8913639;8892894;8780737;8761950;8661406;8639502;8619402;8605189;8547189;8341682;8319567;8125298;8050815;7929073;7876308;7876306;7103951;6865942;6842590;6686106;6322116;6304075;3842206;3335520;2994062;2837653;2155660;1734024;1662743;1629950;1555776;435297;274701;10556093;16526095;9841925;7535922;1540415;8997639;1991513;1907279;15710247;15371598;14694110;16091223;15140972;14597672;9288906;11461920;11357136;11839798;12639940;15558034;15361876;15502823;15135048;20308691;12679033;15107502;15328537;17289661;17643375;18680169;19041431;19477923;19638415;19802004;20197409;20201613;20381070;18478542;12082080;18809673;16226712;21045147;14729568;17620012;21455487;16101678;20804785;21172822;12665555;21182205;20391533;21555369;23077236;23084401;23184937;23383273;18160415;17573780;21221983;23091630;15047060;16687403;20081228;20946988;16196087;16944923;19167051;19928837;20618440;21203488;21800051;21300803;22285204;22323606;22989508;15175327;16179592;17360745;17411366;17504171;17599063;17676665;18331289;18443296;18775311;19380743;19639585;19710135;19883584;20147394;20856200;20876399;21668410;21917091;21923909;22004035;22053931;22465675;22505724;22535526;22797925;22944692;22272336;10547355;17955473;18457437;21734401;21900206;22079093;17620599;22573825;17203973;21670154;18654668;18781797;20639865;21726808;21890473;21906983;21942715;21987572;22178446;21890413;17683050;19322201;17361185;20473970;21044950;21575865;22234250;21110914;22366783;22536838;21145461;21319273;12202484;12857853;16364312;17868192;19725029;19738201;19805454;20972266;21139048;21182203;21565611;21963094;21988832;22323290;22623428;22623727;22751105;23246001;15746964;16186248;17353003;19338310;23326330;23428871;23463506;22855531;21163940;22939629;22961449;8228254;9245787;23395798;23466368;15834686;18000879;23398456;23482560;23535377;7820861;23221571 60 C9JTX5;C9JUM1;C9JZR7;E7EVS6;G5E9R0;Q1KLZ0;Q96HG5 ABBA01039461;AC006483;AK025375;AK058019;AK098751;AK130062;AK130157;AK222925;AK223032;AK223055;AK225414;AK301372;AK304552;AK308277;AK309997;AK316361;AMYH01017004;AY582799;AY970442;BC001301;BC002409;BC004251;BC008633;BC009636;BC012854;BC013380;BC013835;BC014401;BC014861;BC016045;BC023204;BC113036;CH471144;CS081475;D28354;DQ407611;DQ471327;EF036500;EF095209;FB571104;FB668235;GN346972;K00790;M10277;M28424;NG_007992;NM_001101;V00478;X00351;X63432 AAA51567;AAA51578;AAB16906;AAH01301;AAH02409;AAH04251;AAH08633;AAH12854;AAH13380;AAH14861;AAH16045;AAI13037;AAP22343;AAS79319;AAX82251;ABD66582;ABF01018;ABL01513;ABM81886;ABM85054;ABO65086;BAA05720;BAD96645;BAD96752;BAD96775;BAG62914;BAG65347;BAH14732;CAA23745;CAA25099;CAA45026;CAI95947;CAR95103;CAS92761;CAY56012;EAW87341;EAW87343;NP_001092;P60709 Hs.520640 1791422;1793360;1793732;1794552;1794984;2089064;2190487;2218708;5014437;5016584;5019351;5019353;5019357;5019363;5019371;5019379;5019389;5019545;5023519;5023521;5023523;5023529;5023549;5038458;5126815;5126817 ACTB-L;ECD18704;G15871;G49387;GDB:624560;PMC108612P1;PMC109445P1;PMC109669P1;PMC109689P1;PMC110143P1;PMC110200P1;PMC117780P1;PMC129447P1;PMC133998P8;PMC151817P1;PMC21334P2;PMC23952P1;PMC24561P1;PMC24942P1;PMC26753P1;PMC305873P2;PMC317352P1;PMC85795P4;PMC86716P1;REN115794;RI01350 BRWS1;PS1TP5BP1 OTTHUMP00000024886;PS1TP5-binding protein 1;actin, cytoplasmic 1;beta cytoskeletal actin APPROVED protein-coding ENSG00000075624 132 00032 102630;243310;607371 REVIEWED 1346529 ACTL10 actin-like 10 20 20 20 q11.22 29007336 29009363 + 31717965 31719992 + 32254304 32256331 + 11780052;12477932 170487 Q5JWF8 ABBA01019224;AL121906;AMYH01011855;AW006704;BC137111;BC137114;BI832107;CH471077;NM_001024675 AAI37112;AAI37115;EAW76309;NP_001019846;Q5JWF8 Hs.592151 C20orf134;dJ63M2.2 OTTHUMP00000030657;actin-like protein 10;putative uncharacterized actin family protein C20orf134 APPROVED protein-coding ENSG00000182584 16127 18570 VALIDATED 735789 ACTC1 actin, alpha, cardiac muscle 1 Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008] 15 15 q14 32867589 32875219 - 35080297 35087927 - 1298672;1559158;1598724;1598727;1598729;1300348;1300248;6480464;6907045;7240710 1639426;9563954;16343576;14654066;11680626;734919;704424 18952430;18515362;18513529;18506004;18477565;18403758;16967490;16754800;16199542;15489334;15337165;14988412;14760703;14702039;14507647;12721663;12554937;12477932;12452439;12445881;12438125;12417592;12408964;12358155;12271120;12270929;12207032;12139639;12136158;12134071;12118075;12110694;12087068;12063253;12042308;12029088;12019562;12011427;11997265;11983702;11968018;11936879;10966831;10847344;10528865;10494087;10330430;9848085;16611632;17765196;17611253;17947298;19293840;20835239;12771190;17606992;17620599;22266860;22573825;8913639;8163527;8127865;7780165;6689196;6584914;6310553;6273789;6272269;3789022;1762945;1602151;1246600;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;12898519;16169070;16288873;19799913;19853701;19875404;20031618;20086309;20359594;20474083;20308691;20962418;19913121;20628086;22939629;20391533;23084401;20508642;21622575;21182205;22980331;16196087;21800051;17360745;17411366;17504171;18443296;18775311;19639585;19883584;20147394;21917091;21923909;22004035;22465675;22505724;22535526;22643837;22989508;21890473;21900206;21906983;18781797;20639865;21778192;21383157;21110914;22219177;20301486;20301725;10397770;15576338;23398456;19805454;20972266;21139048;21150319;21963094;21987572;21988832;22053931;22623428;23000965;23246001 70 B3KPP5;P68032 ABBA01038521;AC087457;AI222203;AK056592;AK129892;AK129902;AK290616;AMYH01006540;BC009978;CH471125;CR541795;CR737466;DB504220;J00070;J00071;J00072;J00073;NG_007553;NM_005159 AAB59619;AAH09978;ABM84022;ABM87368;BAF83305;BAG51757;CAG46594;EAW92316;EAW92317;EAW92318;NP_005150;P68032 Hs.118127 1741645;2130431;2177805;5019379;5023519;5491332;5492092 GDB:181605;GDB:186852;PMC133998P8;PMC149351P1;PMC23952P1;SHGC-35611;STS_ADH2 ACTC;ASD5;CMD1R;CMH11;LVNC4 OTTHUMP00000160081;actin alpha cardiac 1;actin, alpha cardiac muscle 1;alpha-cardiac actin APPROVED protein-coding ENSG00000159251 143 00015 102540;612098;612794;613424 REVIEWED 1312061 ACTG1 actin, gamma 1 Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 17 17 q25 77091594 77094422 - 79476997 79479892 - 1331525;6480464;6907045;7240710 15118671 22266860;16189514;16130169;19548389;19110265;19008859;18804074;17914456;17722883;17693642;17285762;17220478;17088428;16901892;16824795;16773128;16690605;16569662;16365169;16236267;16179592;16169070;15759055;15618548;15489334;15231748;15163409;15009185;14760703;14684684;13680526;12665801;12612070;12519370;12477932;12470643;12388543;12372613;12052877;12029070;12009869;11941484;11733011;11709093;11474115;10970852;10958671;10925289;10903505;10848969;10781580;10713718;10662538;10074138;10049817;9971772;9808630;9362513;9245787;9199338;9153421;8941379;8892894;8761950;8661406;8630056;8617195;8612804;8416954;8399167;8228254;7849017;7820861;6893424;6865942;6686106;3737401;3510866;3472224;3335520;2837653;1602151;1331119;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;14597672;9288906;12481031;10772929;12874605;12835311;14565974;14576350;9535896;15746964;12665555;12679033;17643375;19477959;19638415;20381070;12082080;21163940;16101678;20797700;22863883;22990118;19059912;20391533;17573780;21378166;21502360;20946988;21252943;17043677;17955473;18781797;19596686;20618440;20972266;21139048;21151833;21800051;21890473;21900206;21906983;21908715;22178446;16289162;17203973;16300736;17361185;20473970;20301607;22536838;22366783;22623803;23277564;16263121;20639865;20706999;21150319;21382349;21963094;21987572;21988832;22053931;22623428;22751105;23246001;12605685;17360745;17411366;17504171;18443296;18775311;19639585;19710135;19883584;20147394;20876399;21917091;21923909;22004035;22465675;22505724;22535526;22989508;3015198;22855531 71 I3L1U9;I3L3I0;I3L3R2;I3L4N8;J3KT65;K7EM38;P63261 ABBA01032150;AC139149;AK291937;AK301175;AK304637;AMYH01008714;AMYH01008715;AY970363;AY970364;AY970365;AY970366;AY970367;AY970368;AY970369;AY970370;AY970371;AY970372;AY970374;AY970375;AY970376;AY970377;AY970380;AY970381;AY970382;AY970383;AY970402;AY970403;AY970404;AY970405;AY970406;AY970407;AY970408;AY970409;AY970410;AY970411;AY970412;AY970413;AY970414;AY970415;AY970416;AY970417;AY970418;AY970419;AY970420;AY970421;AY970441;AY970443;AY970444;AY970468;AY970469;AY970470;AY970471;AY970472;AY970473;AY970474;AY970475;AY970476;AY970477;AY970478;AY970483;AY970485;AY970486;AY970487;AY970488;AY970489;AY970490;AY970491;AY970492;AY970493;AY970494;AY970495;AY970496;AY970497;AY970498;AY970499;AY970500;AY970501;BC000292;BC001920;BC004223;BC007442;BC009544;BC009848;BC010417;BC010999;BC012050;BC015005;BC015695;BC015779;BC017450;BC018774;BC018861;BC023548;BC039144;BC053572;BC063495;BT019856;DB455954;HC250969;HC311158;M16247;M19283;NG_011433;NM_001199954;NM_001614;NR_037688;X04098 AAA51579;AAA51580;AAH00292;AAH01920;AAH04223;AAH07442;AAH09544;AAH09848;AAH10417;AAH10999;AAH12050;AAH15005;AAH15695;AAH15779;AAH17450;AAH18774;AAH23548;AAH53572;AAV38659;AAX82173;AAX82174;AAX82175;AAX82176;AAX82177;AAX82178;AAX82179;AAX82180;AAX82181;AAX82182;AAX82183;AAX82184;AAX82185;AAX82186;AAX82189;AAX82190;AAX82191;AAX82192;AAX82211;AAX82212;AAX82213;AAX82214;AAX82215;AAX82216;AAX82217;AAX82218;AAX82219;AAX82220;AAX82221;AAX82222;AAX82223;AAX82224;AAX82225;AAX82226;AAX82227;AAX82228;AAX82229;AAX82230;AAX82250;AAX82252;AAX82253;AAX82274;AAX82275;AAX82276;AAX82277;AAX82278;AAX82279;AAX82280;AAX82281;AAX82282;AAX82283;AAX82284;AAX82289;AAX82291;AAX82292;AAX82293;AAX82294;AAX82295;AAX82296;AAX82297;AAX82298;AAX82299;AAX82300;AAX82301;AAX82302;AAX82303;AAX82304;AAX82305;AAX82306;AAX82307;ABM82300;ABW03432;ACE87025;ACE87712;BAF84626;BAG62762;BAG65416;CAA27723;CBJ05782;CBJ21234;NP_001186883;NP_001605;P63261 Hs.514581;Hs.713764 1339842;1340599;1667442;1730387;1791422;1791600;1791602;1792364;1792366;1792368;2113634;5017200;5019351;5019355;5019363;5019371;5023519;5023529;5023549;5114548 D17S1646E;D17S1806;D17S668;G06574;PMC108612P1;PMC109653P1;PMC109669P1;PMC116333P1;PMC116333P2;PMC117780P1;PMC129447P1;PMC149466P5;PMC149466P6;PMC149466P7;PMC23952P1;PMC305873P2;PMC85795P4;RH48849;SHGC-8015;UniSTS:478947 ACT;ACTG;BRWS2;DFNA20;DFNA26 actin, cytoplasmic 2;cytoskeletal gamma-actin;gamma-actin APPROVED protein-coding ENSG00000184009 144 00017 102560;604717;614583 REVIEWED 1603412 ACTL6A actin-like 6A This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 q26.33 180763402 180788887 + 179280708 179306193 + 6480464 9845365;10966108;11256614;17081983;16189514;15647280;15489334;15196461;14966270;14743216;14702039;14503849;12963728;12665591;12477932;12437990;12353638;11839798;11734557;11509179;11342225;11266125;11230166;11078522;10611965;10380635;10078207;9710619;8125298;11784859;16169070;8895581;17573780;20460684;18922472;21145461;14966289;16387653;17643375;17207965;18809673;19720835;19759913;14559996;18026119;19454010;21303910;15985610;20360068;21139048;21532573;21549307;21890473;21906983;21963094;11726552;18816825;8804307;20562864;22939629;16196087;21699904;21821000;17314511;17721549;22467210;17878219;20305087;21907836;21628590;21320693;19380743;19716452;22797925 86 C9JQT2;H7C5S0;O96019 AA256726;AB015907;AB060168;AB061315;ABBA01058530;ABBA01058531;AC090425;AC126184;AF041474;AK021756;AK098691;AK223212;AL136608;AMYH01013688;BC000949;BC001391;BC035463;BC036371;CH471052;CR533529;NM_004301;NM_177989;NM_178042 AAC94991;AAH00949;AAH01391;AAH36371;ACE86855;ACE87542;ADQ32750;BAA74577;BAB87844;BAB87848;BAD96932;BAG51043;CAB66543;CAG38560;EAW78397;EAW78398;EAW78399;EAW78400;EAW78401;NP_004292;NP_817126;NP_829888;O96019 Hs.435326 1341014;1718943;1849753;2165875 D3S3699;RH123178;SHGC-77570;STS-N29372 ACTL6;ARPN-BETA;Arp4;BAF53A;INO80K;MGC5382 53 kDa BRG1-associated factor A;BAF complex 53 kDa subunit;BAF53;BRG1-associated factor 53A;INO80 complex subunit K;OTTHUMP00000212444;OTTHUMP00000212445;actin-like protein 6A;actin-related protein 4;actin-related protein Baf53a;arpNbeta;hArpN beta APPROVED protein-coding ENSG00000136518 24124 05389 604958 REVIEWED 737318 ACTG2 actin, gamma 2, smooth muscle, enteric Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] 2 2 p13.1 73973601 74000288 + 74120093 74146780 + 1300349;1300249;6480464 734924;704425 17620599;17934296;17554369;17009076;16824795;15862967;15815621;15489334;14702039;12612070;12477932;12450213;10655297;8530021;7759108;2377475;1710027;1673027;10556093;16526095;9841925;1540415;8997639;1991513;1907279;14694110;12670476;14627618;19797053;20946988;22722757;21203488;17360745;17411366;17504171;18443296;18775311;19639585;19883584;20147394;20876399;21917091;21923909;22004035;22465675;22505724;22535526;22989508;12777385;18781797;21906983;20639865;20706999;20972266;21139048;21890473;21963094;21987572;22053931;22810585;22960657;23000965;23246001 72 B8ZZJ2;C9JFL5;F8WB63;F8WCH0;P63267 ABBA01075590;ABBA01075591;ABBA01075592;ABBA01075593;AC073046;AK124338;AK304523;AK310215;AK312955;AMYH01010448;AY970439;AY970440;BC012617;BC094877;BI850192;CH471053;CR536515;CR541794;D00654;NM_001199893;NM_001615;X16940 AAH12617;AAH94877;AAX82248;AAX82249;AAX88909;ABM83873;ABM87194;BAA00546;BAG35794;BAG54029;BAG65327;CAA34814;CAG38753;CAG46593;EAW99712;EAW99713;NP_001186822;NP_001606;P63267 Hs.516105 1745003;1791616;1793046;1856221;2124276;5023519;5023660;5492092 Acta1;D2S2088;GDB:592777;PMC117352P1;PMC193670P1;PMC23952P1;RH68187;STS_ADH2 ACT;ACTA3;ACTE;ACTL3;ACTSG OTTHUMP00000160245;OTTHUMP00000202509;OTTHUMP00000203034;actin, gamma 2;actin, gamma-enteric smooth muscle;actin-like protein;alpha-actin 3;alpha-actin-3;gamma-2-actin;smooth muscle gamma actin;smooth muscle gamma-actin APPROVED protein-coding ENSG00000163017 145 00016 102545 REVIEWED 1351133 ACTL6B actin-like 6B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. [provided by RefSeq, Jul 2008] 7 7 7 q22 94970497 94983841 - 100078664 100091986 - 100240720 100254084 - 1580863;6480464 10380635;15489334;12853948;12690205;12565893;12477932;12437990;12368262;10611965;9847074;9799793;8889548;11726552;8804307;19913121;20628086;16169070;17207965;21832049;18029348;21900206;21906983;21963094;23222517 51412 C9JQT4;O94805 AACC02000084;AB015906;ABBA01013193;ABBA01013194;ABBA01013195;AC099394;AF041475;AK314940;AMYH01017740;BC008582;BC020944;BM696009;CH236956;CH471091;NM_016188 AAD54678;AAH20944;AAP21874;ADQ32375;BAA74576;BAG37446;EAL23823;EAW76502;EAW76503;EAW76504;EAW76505;NP_057272;O94805 Hs.259831 1672273;1778806;1788602;2191691;5124560 MARC3579-3580;MARC_5081-5082:996690120:1;RH47495;RH70657;RH80704 ACTL6;BAF53B 53 kDa BRG1-associated factor B;BRG1-associated factor 53B;OTTHUMP00000216133;actin-like 6;actin-like protein 6B;actin-related protein Baf53b;arpNalpha;hArpN alpha APPROVED protein-coding ENSG00000077080 160 12419 612458 REVIEWED 1312292 ACTL7A actin-like 7A The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008] 9 9 9 q31 82123898 82125330 + 110664424 110665856 + 111624603 111626035 + 1580863;6480464 22386842;10373328;15489334;15164053;12695497;12571287;12477932;10611965;18720898;12052866;21263130;21278383;21832049;22318606 10881 Q9Y615 AB284520;ABBA01042777;AF113526;AK314981;AL359692;AMYH01021618;BC014610;CH471105;HC006760;NM_006687 AAD44109;AAH14610;BAF41971;BAG37480;CBH19186;EAW59026;NP_006678;Q9Y615 Hs.123530 2218178 ACTL7A__4246 OTTHUMP00000021866;actin-like 7-alpha;actin-like protein 7A;actin-like-7-alpha APPROVED protein-coding ENSG00000187003 161 11976 604303 REVIEWED 1602048 ACTL9 actin-like 9 19 19 19 p13.2 8627110 8628531 - 8668753 8670172 - 8807751 8809172 - 6480464 12477932;22197932 284382 Q8TC94 ABBA01016837;AC093230;AC243312;AK292258;AMYH01009445;AY248901;BC024028;BC045752;NM_178525 AAH24028;AAH45752;AAP20052;BAF84947;NP_848620;Q8TC94 Hs.209206 HSD21;MGC33407 actin-like protein 9 protein-coding ENSG00000181786 28494 14562 VALIDATED 1602092 ACTL8 actin-like 8 1 1 1 p36.2-p35 16475534 16479615 + 17954431 18026145 + 18081808 18153558 + 6480464 14702039;12477932;18029348;17623298;21963094;23251661 81569 Q9H568 ABBA01000287;AK057339;AL136529;AMYH01000301;AMYH01000302;BC028909;BI826094;CH471134;NM_030812;U20582 AAA62476;AAH28909;ADZ15909;BAB71434;EAW94846;NP_110439;Q9H568 Hs.2149 2130132;2136409 SHGC-35351;SHGC-74298 CT57 OTTHUMP00000002612;actin like protein;actin-like protein 8;cancer/testis antigen 57 protein-coding ENSG00000117148 24018 11274 VALIDATED 6484054 ACTN4P1 actinin, alpha 4 pseudogene 1 4 q26 117519317 117520764 + 344978 ABBA01063863;AC106892;AMYH01014478;NG_022074 1710574;1851526;2129442 G01876;G34288;SHGC-82390 pseudo 44028 INFERRED 1313810 ACTL7B actin-like 7B The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008] 9 9 9 q31 82116170 82117577 - 110656692 110658031 - 111616868 111618275 - 1580863;6480464 10373328;16344560;15489334;15164053;14702039;12907721;12477932;10611965;21832049 10880 Q9Y614 AB284521;ABBA01042777;AF113527;AI150021;AK097670;AK313871;AL359692;AMYH01021618;BC033789;CH471105;DB021848;HC006762;HC044497;NM_006686 AAD44110;AAH33789;ADZ15359;BAF41972;BAG36599;BAG53508;CBH19187;CBH30578;EAW59025;NP_006677;Q9Y614 Hs.534390 2114058;2218972 AB070173;ACTL7B__4247 Tact1 OTTHUMP00000021867;actin-like 7-beta;actin-like protein 7B;actin-like-7-beta APPROVED protein-coding 162 11977 604304 REVIEWED 1350885 ACTN1-AS1 ACTN1 antisense RNA 1 q24.1 16344560 161159 DB029126;NR_073422 Hs.603341 C14orf84 ACTN1 antisense RNA 1;ACTN1 antisense RNA 1 (non-protein coding) APPROVED miscrna 20131 VALIDATED 6483968 ACTN4P2 actinin, alpha 4 pseudogene 2 1 p34.3 38232107 38245184 + 20125193 391026 ABBA01023266;ABBA01023267;ABBA01023268;AC104336;AL929472;AMYH01000504 1336566 D1S186 pseudo 44032 MODEL 734136 ACTN3 actinin, alpha 3 This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2012] 11 11 q13.1 66070967 66087373 + 66314312 66330799 + 1298582;1580863;6480464;6907045 1339456 22247001;8104223;11171996;15841212;16807302;1629252;19422651;19405879;19237423;19150855;19038838;19016781;18801770;18756004;18718976;18687124;18676575;18651373;18637739;18470530;18043716;17986906;17879893;17848603;17630210;17627799;17560787;17550918;17468578;17339648;17033684;16612741;15886711;15817725;15808860;15718405;15489334;15221860;12879365;12837758;12477932;11440986;11309420;10656685;10192379;9675099;22648472;22045415;12692149;19544227;19696509;19807896;20005538;20010124;20013558;20044471;20044476;20069311;20089531;20148371;20222007;20459474;19913121;20561285;20628086;20734058;20699471;20830656;20845221;20952631;20966103;21072744;20936592;22916217;21299892;22639897;21407828;21472630;23145141;21784188;22996021;21956137;21930675;21842214;22253474;22117592;22224919;21933355;21890473;22891846;23000965;21491997;21926972;22868563 89 B4DZQ2;D6RH00;Q08043;Q4VAM3 ABBA01024074;AK125851;AK303044;AK313556;AMYH01003735;AP002748;BC096323;BC099647;BC099648;BC099649;CH471076;M86407;NG_013304;NM_001104;NM_001258371;NR_047663 AAA51585;AAH96323;AAH99647;AAH99648;AAH99649;BAG36331;BAG64164;EAW74546;NP_001095;NP_001245300;Q08043 Hs.654432 1712324;1742493;1769819;2161911;2171229;2172980 ACTN3;G54071;GDB:197568;RH47283;STS-M86407;STS-W72567 MGC117002;MGC117005 F-actin cross-linking protein;OTTHUMP00000219049;OTTHUMP00000219054;actinin alpha 3;alpha-actinin skeletal muscle;alpha-actinin-3 APPROVED protein-coding ENSG00000248746 165 02148 102574 REVIEWED 736411 ACTN1 actinin, alpha 1 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q24 68410793 68515709 - 69340840 69446083 - 1298684;1300350;1580863;6480464;6484113;6907045 2349951;734925 12223541;12211109;11973348;11972044;11854440;11846417;11842093;11802708;11739652;11724819;11573089;11470434;11423549;11369769;11305911;11114196;11113628;11110697;10926853;10833443;10801846;10470015;10369880;10224105;7983147;10793131;15988023;16807302;18029348;1629252;19094982;18978946;18560563;18519573;18408146;18353764;17944866;17898132;17525629;17311919;17115122;17081983;16951376;16820411;16713569;16430917;16396496;16195373;16190873;16189514;16097034;15710624;15489334;15070900;14702039;12837758;12695497;12665801;12642359;12615977;12507293;12499399;12493766;12477932;12446711;22586326;10198040;9599291;9030526;8713105;8125298;7829101;7790378;7750553;2780298;2169343;1720388;8997639;1991513;10753915;2116421;12628297;9535896;12023963;14623081;22689882;21474972;21319273;7908020;14630798;15147863;15159419;15604093;16291744;17965186;19247474;19750481;20037648;20156433;10029173;19715605;20936779;20634891;17082780;20391533;23077236;23383273;21408150;15576338;17974975;2777757;20811636;21163940;21182205;22863883;22939629;23557398;16944923;16464232;18341635;19596686;21078624;21139048;21890473;21906983;22178446;9501083;14581471;16009940;16125169;23139387;23463506;23664615;12202484;16263121;18985028;19805454;21080425;21963094;21987572;21988832;22304920;23000965;15123239;23454549;19380743;23434115 87 B7TY16;G3V2E8;G3V2N5;G3V2W4;G3V2X9;G3V380;G3V5M4;H0YJ11;H0YJW3;H7C5W8;H9KV75;P12814 ABBA01023682;ABBA01023683;AJ844628;AK098203;AK124378;AK225782;AK294317;AK295099;AK298496;AK299362;AL117694;AMYH01005821;AMYH01005822;BC003576;BC004984;BC015766;BC127124;BI494856;BT007207;BX248020;BX641076;CH471061;DC321454;DC372566;DQ496098;EU716325;FJ410030;M95178;NG_029480;NM_001102;NM_001130004;NM_001130005;X15804;X55187 AAA51582;AAH03576;AAH15766;AAI27125;AAP35871;ABF50047;ABM81704;ABM86694;ACE62922;ACJ24535;BAG53591;BAG57591;BAG58135;BAG61357;BAH12801;CAA33803;CAA38970;CAD62344;CAH59747;EAW80971;EAW80972;EAW80973;EAW80974;EAW80975;EAW80976;NP_001093;NP_001123476;NP_001123477;P12814 Hs.509765 1665007;1684832;2131046;2132750;2155524;2160301;2160998;2186313;2191375;5014404;5022200;5022450;5024593;5491218 Actn1;D10S275;D14S1222;D14S1312;D14S931;D14S939;ECD17402;L18426;MARC_17931-17932:1024341335:5;RH48588;RH67009;RH93083;SHGC-58252;STS-D29544 BDPLT15;FLJ40884;FLJ54432 F-actin cross-linking protein;OTTHUMP00000245940;OTTHUMP00000245941;OTTHUMP00000245942;OTTHUMP00000245943;OTTHUMP00000245944;actinin 1 smooth muscle;alpha-actinin 1;alpha-actinin cytoskeletal isoform;alpha-actinin-1;non-muscle alpha-actinin-1 APPROVED protein-coding ENSG00000072110 163 00020 102575;615193 REVIEWED 1317671 ACTN2 actinin, alpha 2 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] 1 1 q42-q43 234916422 234993863 + 236849770 236927558 + 1298582;1559161;1559162;1559160;1580863;6480464;6907045;7240710 1339456;9009191;14567970;11440986 22081385;22427672;11699871;10427098;9501083;8104223;9817758;11846417;10656685;16807302;12356918;12809483;15841212;18029348;1629252;19150855;19086053;18687124;18513529;17110593;16713569;16120608;15843396;15737636;15489334;15072553;14565974;12860415;12837758;12812986;12477932;12446711;12435606;12358155;12140183;12006649;11842093;11724819;11389904;11309420;11171996;11114196;10984498;10931874;10861853;10812072;10788519;10548523;10391924;9952395;9728925;9030526;8609175;1505962;9675099;16169070;15576338;12559088;12815021;14622581;14630798;15604093;16902413;19696509;19815520;19932097;20022194;20201926;20379614;20398908;20474083;8615909;8665664;9481670;10373510;16712791;15489953;11101506;21163940;22939629;20618440;17944866;21078624;22079093;21906983;22178446;20301486;20301725;22253474;21890473;21963094;21987572;21988832;23000965;15123239;22972877 88 B2RCS5;B7Z4P8;P35609 AB209521;ABBA01033173;AJ249756;AJ249757;AJ249758;AJ249759;AJ249760;AJ249761;AJ249762;AJ249763;AJ249764;AJ249765;AJ249766;AJ249767;AJ249768;AJ249769;AJ249770;AJ249771;AJ249772;AJ249773;AJ249774;AJ249775;AJ249776;AK294906;AK297469;AK297618;AK297628;AK297886;AK315250;AL359185;AL359921;AMYH01001859;AMYH01001860;BC047901;BC051770;BX103017;CB153006;CH471098;DC378038;M86406;M86804;NG_009081;NM_001103;NM_001278343;NM_001278344 AAA51583;AAA51584;AAH47901;AAH51770;BAD92758;BAG37672;BAH11921;BAH12587;BAH12632;BAH12634;BAH12687;CAB61269;EAW70064;EAW70065;NP_001094;NP_001265272;NP_001265273;P35609 Hs.498178 1734422;1742171;1776434;1849520;2110241;2113650;2127122;2158573;2162749;5109773;5117194 ACTN2;ACTN2_4196;AL009965;D1S1759E;D1S2059E;D1S2925;G31538;GDB:192954;GDB:451691;SHGC-12727;SHGC-76572 CMD1AA F-actin cross-linking protein;OTTHUMP00000037963;alpha-actinin skeletal muscle;alpha-actinin-2 APPROVED protein-coding ENSG00000077522 164 00019 102573;612158 REVIEWED 1316546 ACTR1B ARP1 actin-related protein 1 homolog B, centractin beta (yeast) This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008] 2 2 2 q11.1-q11.2 92476403 92484541 - 97638863 97646816 - 98272402 98280561 - 1580863;6480464 12857853;7696711;17619203;15815621;15489334;12477932;11256614;10343100;21145461;16169070;19996280;21832049;22939629;20360068;21900206;21139048;21906983;22863883;9436979 10120 P42025 ABBA01073975;AC017099;AMYH01010794;AMYH01010795;BC004374;BC006372;BC010090;BC025274;CH471127;NM_005735;X82207;X82208 AAH04374;AAH06372;AAH10090;AAY24280;ABM84364;ABM87747;CAA57691;CAA57692;EAX01923;EAX01924;EAX01925;EAX01926;EAX01927;EAX01928;NP_005726;P42025 Hs.98791 1699680;1721481;2135297;2187243 G59594;RH103445;WI-13619;WI-19134 ARP1B;CTRN2;PC3 OTTHUMP00000161110;actin-related protein 1B;beta-centractin;centractin beta APPROVED protein-coding ENSG00000115073 168 05508 605144 REVIEWED 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) 14 14 14 q23.1 38716785 38752305 + 57736586 57772107 + 58666833 58702354 + 1580863;6480464 16341674;15489334;14702039;12857853;12477932;8125298;16712791;22863883;22939629;20360068;21139048;21906983;22053931 55860 F6S9Y6;G3V2Q5;G3V4K6;G3V524;G3V5Y4;H0YJD9;H0YJE8;H0YJR3;Q9NZ32 ABBA01018251;ABBA01018252;ABBA01018253;AF220190;AK000544;AK022248;AK022534;AK222624;AK222702;AK315537;AL121579;AL132989;AMYH01005757;BC005208;BC011997;BM750953;BX161491;BX248282;CB135721;CH471061;NM_018477 AAF67655;AAH05208;AAH11997;ABM82220;ABM85404;BAA91243;BAB14083;BAD96344;BAD96422;BAG37916;CAD61940;CAD62610;EAW80714;NP_060947;Q9NZ32 Hs.509451 1652371;1676198;1783006;2121160;2121162 A005R28;D14S774;G20444;RH91710;SHGC-111380 ACTR11;Arp11;HARP11 OTTHUMP00000244964;actin-related protein 10;actin-related protein 11 protein-coding 17372 12420 VALIDATED 735302 ACTN4 actinin, alpha 4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008] 19 19 q13 43830167 43913010 + 39138267 39221171 + 1598731;1300349;1580863;6480464;6484113;6907045;7240710 10700177;734924 22586326;12411747;8104223;15841212;9508771;15048094;11948184;16807302;18029348;15619032;1629252;19357256;19151661;19142020;18765526;18726620;18552466;18436095;18362906;18215660;18180332;18164029;17968527;17901210;17873890;17438131;17018644;16980305;16951376;16713569;16396496;16344560;16251236;16189514;15780077;15772161;15592455;15588985;15493875;15489334;15152255;15070900;12960352;12837758;12617336;12477932;12093915;12042308;11882289;11739652;11733011;11724819;11382784;11358829;11160423;10915794;10753915;10673389;10656685;9461087;2116421;1602151;10556093;11707406;14630798;16204054;16944923;17289661;19447967;19666657;19672209;19913389;19920151;19956976;20037648;20156433;20197409;20201926;22370640;16751776;20819441;22252987;15342556;16341674;20936779;19913121;20628086;20519146;21078666;21234524;22863883;21163940;22939629;21408150;21680739;23557398;22908231;21800051;16196087;21655212;22351778;22567897;17370265;18781797;21139048;21890473;21906983;21987572;22178446;12202484;16212417;19738201;19805454;20448150;21963094;21988832;22623428;23000965;22348389;17955473;21078624;21081666;21890413;22079093;16009940;19322201;22825873;23454549;20391533;22965004;23106098;23182705;23463506;23000411;19380743;22797925;23085994 81 D6PXK4;F5GXS2;H7C144;K7EJH8;K7EP19;O43707 AA478431;AA847056;ABBA01040690;ABBA01040691;ABBA01040692;AC008649;AC022144;AK299955;AK304554;AK309361;AK309363;AK309364;AMYH01009784;AU118403;BC005033;BC015620;BM841805;BP332596;BX647098;CH471126;D89980;DQ431186;GU987085;NG_007082;NM_004924;U48734 AAC17470;AAH05033;AAH15620;ABD96103;ABM84365;ABM87776;ADG03678;BAA24447;BAG61782;BAG65349;EAW56809;EAW56810;EAW56811;NP_004915;O43707 Hs.270291 1331580;1341564;1653166;1761859;1761991;1777220;1854288;2142134;2153714;2180935;2190983;5108403;5491216 A008Q24;Actn4;D19S1071;D19S422;D19S589;D4S439E;MARC_12245-12246:1008698037:1;RH16012;RH35900;SHGC-145808;SHGC-145914;SHGC-16522;WI-17325 ACTININ-4;DKFZp686K23158;FSGS;FSGS1 F-actin cross-linking protein;OTTHUMP00000174445;actinin alpha 4;actinin alpha4 isoform;alpha-actinin-4;focal segmental glomerulosclerosis 1;non-muscle alpha-actinin 4 APPROVED protein-coding 166 05222 603278;604638 REVIEWED 1315973 ACTR1A ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008] 10 10 q24.32 104228976 104252452 - 104238986 104262512 - 6480464 1528266;7696711;18303113;16381901;15489336;15489334;15164054;14702039;12871323;12477932;11461920;11256614;11076863;10671518;10671377;10607828;10504299;10196146;10074429;9499420;8991093;7878030;7518465;1356230;11357136;11483508;21145461;19737819;11076968;12221128;12852856;16462731;7790358;23184937;22863883;22939629;16196087;20360068;21110914;21139048;21890473;21906983;21628590 10121 AAB23391;B4DXP9;F5H3I4;P61163;R4GMT0 ABBA01063151;ABBA01063152;ABBA01063153;AK096085;AK297362;AK297620;AK302072;AK312506;AL121928;AMYH01003018;BC000693;BC026016;CH471066;DC384284;NG_011901;NM_005736;X82206;Z14978 AAB23391;AAH00693;AAH26016;ABM83615;ABM86860;BAG35407;BAG59809;BAG59996;BAG63461;CAA57690;CAA78701;CAL38013;EAW49685;EAW49686;EAW49687;EAW49688;NP_005727;P61163 Hs.153961 1667693;1688941;1712184;1744313;1761207;1770808 G54143;GDB:451658;RH47050;SHGC-145218;SHGC-57449;WI-22078 ARP1;CTRN1;FLJ52695;FLJ52800;FLJ55002 OTTHUMP00000020366;actin-RPV;alpha-centractin;centractin;centrosome-associated actin homolog APPROVED protein-coding ENSG00000138107 167 05507 605143 REVIEWED 3004191 ACTR3BP1 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 1 Y Y q11.21 12011449 12013292 + 13551549 13553192 + 9847074 643050 ABBA01032196;AC134879;NG_005799 pseudo 37724 INFERRED 4108537 ACTR3BP3 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 3 16 16 p11.2 32297349 32299183 - 32389949 32391590 - 647156 Q9BWW0 ABBA01002154;AC138915;AMYH01007527;CH471357;NG_005800 EAW51523 pseudo 38678 INFERRED 4108510 ACTR3BP2 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 2 2 p11.1 91492494 91494319 + 92129159 92130496 + 440888 Q9BWW1 ABBA01048753;AC128677;AMYH01010666;AY026351;CH471366;NR_027714 AAK31777;EAW50837;EAW50838 Hs.730239 5094658 PMC310890P1 FKSG73 pseudo ENSG00000226481 38677 VALIDATED 4109091 ACTR3BP4 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 4 4 4 4 q24 101180392 101182025 + 104102456 104104456 + 103883285 103884928 + 9847074 777774 ABBA01063705;AC083826;AMYH01014433;NG_005802;NG_008662 pseudo 38681 INFERRED 4109092 ACTR3BP6 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 6 22 22 q11.1 15347583 15349226 + 16967583 16969226 + 644773 Q9BWW2 ABBA01001470;AMYH01012415;AP000546;AP000547;AY026350;NG_005801 AAK31776 pseudo 38683 INFERRED 4109585 ACTR3BP5 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 5 10 10 p11.1 39029634 39031478 + 38989727 38991372 + 399746 ABBA01003903;AL133173;AMYH01002273;AY026352;NR_045000 AAK31778 Hs.742607 5094658 PMC310890P1 FKSG74 pseudo ENSG00000227264 38682 VALIDATED 4109173 ACTR3P3 ARP3 actin-related protein 3 homolog (yeast) pseudogene 3 3 3 3 q12.2 99273655 99274600 + 102364628 102365553 + 100881938 100882883 + 100128020 ABBA01061779;AC093008;AMYH01013359;NG_022261 pseudo 38679 INFERRED 4108897 ACTR3P2 ARP3 actin-related protein 3 homolog (yeast) pseudogene 2 X X X q13.1 68344091 68345347 + 67906224 67909149 + 67991165 67992421 + 100129013 ABBA01067385;AL353587;AMYH01022520;NG_022669 pseudo 38676 INFERRED 1343118 ACTR3P1 ARP3 actin-related protein 3 homolog (yeast) pseudogene 1 14 14 q11.2 1915758 1918332 - 22053413 22054404 - 100288580 ABBA01061261;AE000521;AE000658;AMYH01005596;NG_023029 pseudo 31820 INFERRED 1603621 ACTR3B ARP3 actin-related protein 3 homolog B (yeast) This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 7 7 7 q36.1 148258695 148259790 + 152087784 152183396 + 152456834 152552464 + 6480464 17353931;14702039;14651955;12853948;12477932;11162478;10806390;10047519;16169070;20379614;12857853;15176487;21963094;21988832;23251661;23398456 57180 Q59GD5;Q9P1U1 AA559050;AB209174;ABBA01035089;ABBA01035090;ABBA01035091;ABBA01035107;ABBA01035108;ABBA01035109;ABBA01035110;ABBA01035111;ABBA01035112;AC072057;AC092180;AF023453;AF086920;AK001198;AK294292;AK315534;AK316078;AMYH01018154;AMYH01018155;AMYH01018156;AMYH01018157;AMYH01018158;BC008682;BC015207;CH471209;DB570472;DN601600;NM_001040135;NM_020445;NR_073000;NR_073001 AAC98904;AAH08682;AAH15207;AAP97150;AAS07430;ABM85680;ABW03746;BAD92411;BAG37914;BAG50867;BAG57575;BAH14449;EAW80446;NP_001035225;NP_065178;Q9P1U1 Hs.647117 1758171;2142725;2155343;2156224;2156333;2158419;2173746;2181199;2187705;2187707;5014029;5022463;5022578 D13S1639;D1S1423;D3S1673;D7S1390;D7S3198;D7S3199;GDB:1318002;GDB:1318182;RH78488;SHGC-147571;SHGC-30943;STS-W68401;WI-14223 ARP11;ARP3BETA;DKFZp686O24114 ARP3-beta;OTTHUMP00000200055;OTTHUMP00000200076;OTTHUMP00000200077;actin-like protein 3B;actin-related protein 3-beta;actin-related protein 3B;actin-related protein ARP4;actin-related protein Arp11 APPROVED protein-coding ENSG00000133627 17256 12489 REVIEWED 6771192 ACTR6P1 ARP6 actin-related protein 6 homolog (yeast) pseudogene 1 4 107757658 107758728 - 100421495 ABBA01063745;AC104829;AMYH01014448;NG_025147 pseudo 44210 INFERRED 2923209 ACTR3C ARP3 actin-related protein 3 homolog C (yeast) 7 7 7 q36.1 144543643 144577847 - 149575234 149651741 - 149944301 150020758 - 6480464 11162478;14651955;16344560;8889548 653857 C9IZN3;C9J580;H7C4J1;Q9C0K3 AACC02000108;AB039791;ABBA01035192;ABBA01035193;ABBA01035194;ABBA01035195;ABBA01035196;AC005586;AC006008;AK130039;AMYH01018137;AMYH01018138;BM674900;BX640643;DA868104;DN992136;DR004860;NM_001164458;NM_001164459 BAB21501;BAC85283;CAI56711;NP_001157930;NP_001157931;Q9C0K3 Hs.664579 1758171;1856543;2142725;2158419;2187705;5037552 D7S3198;D8S2279;GDB:1318002;GDB:1318182;GDB:4585543;SHGC-147571 ARP11 OTTHUMP00000212791;actin-related Arp11;actin-related protein 11;actin-related protein 3C protein-coding ENSG00000106526 37282 VALIDATED 1321952 ACTR2 ARP2 actin-related protein 2 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p14 65308406 65351891 + 65454829 65498387 + 631743;6480464;6484113 9230079 17353931;19286135;19262673;18720401;18516090;17501982;17459058;17085436;16638851;16403731;16253999;16004967;15741236;15489334;15469433;15385624;15247266;15242766;15146197;12872157;12791263;12672817;12534372;12515716;12477932;12473693;12468383;12464680;12429845;12200375;12176354;12036877;12019562;11741539;11721045;11706047;11146629;11052943;11018051;10781580;10563804;10524632;10421578;10381382;9889097;9359840;9210376;9000076;10880444;21145461;20308691;15834156;19641626;19913427;20404198;21108927;23077236;23106098;21182205;22863883;22939629;16196087;22586326;23051739;18781797;21987572;22118674;21139048;21890473;21906983;22100162;22125478;19322201;19738201;21963094;21988832;23000965;23212915;20876399;22053931;22268729;22505724;22797925 10097 F5H6T1;P61160 ABBA01075438;AC007318;AF006082;AK295157;AK301634;AK315205;AL049356;AMYH01010405;BC014546;BC036253;BI670123;BQ425220;BQ684301;BU184246;BX491447;BX649080;CH471053;CN291246;DC404298;NM_001005386;NM_005722;W15444 AAB64187;AAH14546;AAH36253;ACE86733;ACE87419;BAG37642;BAG58171;BAG63117;EAW99908;EAW99909;EAW99910;EAW99911;EAW99912;EAW99913;EAW99914;NP_001005386;NP_005713;P61160 Hs.643727;Hs.744913 1681131;1682293;1705140;2134323;2134325;5096169 A005P05;G20390;RH27241;RH38846;SHGC-31132;SHGC-80003 ARP2 OTTHUMP00000159937;OTTHUMP00000202270;actin-like protein 2;actin-related protein 2 APPROVED protein-coding ENSG00000138071 169 05023 604221 REVIEWED 736322 ACTR3 ARP3 actin-related protein 3 homolog (yeast) The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 2 2 q14.1 114364007 114432637 + 114647537 114716167 + 631743;6480464;6484113 9230079 17353931;19286135;19262673;18516090;17576929;17524364;17501982;17085436;16403731;16253999;16004967;15741236;15635413;15592455;15489334;15469433;15385624;15279900;15247266;15242766;12872157;12829704;12791263;12672817;12477932;12473693;12464680;12429845;12200375;12176742;10381382;9889097;9860974;9359840;9210376;9000076;12534372;10421578;12176354;12036877;11882288;11790298;11741539;11721045;11146629;11052943;11018051;10806390;10781580;10563804;10524632;22261722;19913427;20404198;20974812;21108927;20308691;21182205;22863883;22939629;22586326;22145905;19738201;20195357;21963094;23000965;23051739;18781797;20360068;21139048;21890473;21906983;22100162;23320827;20585556;20603326;20876399;22053931;22505724;22797925 10096 B4DXW1;F5H3P5;F8WDR7;F8WE84;F8WEW2;P61158 AB209353;ABBA01045977;ABBA01045978;AC110769;AF006083;AF127773;AI521063;AK300030;AK300224;AK302152;AK302359;AK303988;AK312659;AK316213;AK316396;AL832773;AMYH01010970;BC044590;CH471103;DB453995;NM_001277140;NM_005721;NR_102318 AAB64188;AAD51904;AAH44590;AAX93226;BAD92590;BAG35542;BAG61841;BAG61992;BAG63523;BAG63684;BAG64905;BAH14584;BAH14767;EAW95179;EAW95180;EAW95181;EAW95182;NP_001264069;NP_005712;P61158 Hs.433512;Hs.595349 1670847;1772905;1774732;2171464 D2S2582;RH68378;WI-12604;WI-20350 ARP3 OTTHUMP00000203980;actin-like protein 3;actin-related protein 3;actin-related protein 3 homolog (yeast) APPROVED protein-coding 170 05024 604222 REVIEWED 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) 12 12 12 q23.1 100259848 100283475 + 99118705 99142332 + 100593865 100618202 + 737633;1580863;6480464 12477932 16487625;15489334;14702039;11368909;8125298;17643375;17207965;20473270;21890473;21906983;22467210;16344560 64431 F8VP72;F8VRL1;F8VSD1;F8W043;F8W057;F8W0Q1;G3V1Y1;Q9GZN1 AB038229;ABBA01053261;ABBA01053262;ABBA01053263;AC010203;AC026110;AF161399;AF175226;AF212251;AK023495;AK023684;AK124075;AK222959;AK296991;AMYH01004696;BC015107;BC042997;BC050679;CH471054;DB022992;NM_022496;NR_048568;NR_048569 AAF28959;AAH15107;AAK14934;AAQ13651;ADQ31805;BAB14588;BAB14640;BAB20762;BAD96679;BAG53999;BAG59531;EAW97623;EAW97624;EAW97625;EAW97626;EAW97627;NP_071941;Q9GZN1 Hs.115088 1340032;1650044;2150690;5015961;5037552 D12S1588;D12S2127;D12S2146;D15S1477;D8S2279 ARP6;CDA12;FLJ13433;HSPC281;MSTP136;hARP6;hARPX OTTHUMP00000243341;OTTHUMP00000243343;OTTHUMP00000243347;OTTHUMP00000243348;actin-related protein 6 protein-coding ENSG00000075089 24025 12421 VALIDATED 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) 20 20 20 q11.23 34087821 34111793 + 36810511 36834503 + 37377097 37401089 + 6480464 19014934;16230350;15489334;14702039;12601173;12477932;11780052;18922472;18163988;17643375;20197409;18026119;21303910;22939629;17721549;21900206;21906983 79913 Q9H9F9 ABBA01052531;ABBA01052532;AK022847;AL133519;AMYH01011906;AY211911;BC001324;BC006162;BC038402;BF529768;CH471077;NM_024855 AAH01324;AAH06162;AAH38402;AAO65164;BAB14270;EAW76010;EAW76011;NP_079131;Q9H9F9 Hs.371585 1750857;2174373 RH65503;SHGC-104591 Arp5;FLJ12785;INO80M INO80 complex subunit M;OTTHUMP00000030976;actin-related protein 5;hARP5;sarcoma antigen NY-SAR-16 protein-coding ENSG00000101442 14671 08575 VALIDATED 1606455 ACTRT2 actin-related protein T2 The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008] 1 1 1 p36.32 2136394 2137815 + 2927906 2929327 + 2938046 2939467 + 6480464 15489334;15342556;12477932;12243744;11750065;18029348 140625 Q8TDY3;Q96LK1 AB057364;ABBA01073669;AF440740;AK058153;AK314500;AL356984;AMYH01000185;AW016204;BC029499;BI825639;BP370015;CH471248;HC006780;NM_080431 AAH29499;AAM00433;ABM82186;ABM85372;BAB71690;BAB85862;BAG37100;CBH19196;EAW61142;NP_536356;Q8TDY3 Hs.236635 ARPM2;ARPT2;Arp-T2;FLJ25424;HARPM2 OTTHUMP00000000569;actin-related protein M2;actin-related protein T2;actin-related protein hArpM2 APPROVED protein-coding ENSG00000169717 24026 12254 608535 REVIEWED 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) 3 3 3 53868375 53883507 - 53876195 53891227 - 53901093 53916229 - 1580863;6480464 18922472;18163988;17081983;16230350;15188402;14702039;12477932;21048031;20971067;16344560;17643375;18026119;21303910;22939629;22977180;17721549;21906983;22210892 93973 C9J7L6;H0Y849;Q9H981 ABBA01024471;AC012467;AK022996;AK026232;AK094507;AMYH01013195;BC032744;BU070174;BX354684;CH471055;DA453867;NM_022899 AAH32744;BAB14352;BAB15402;BAG52879;EAW65300;NP_075050;Q9H981 Hs.412186 1683269;1699606;1706472;5126793 RH103404;RH99050;SHGC-81122;WI-14906 ARP8;FLJ12934;FLJ22579;INO80N;hArp8 INO80 complex subunit N;OTTHUMP00000212735;OTTHUMP00000213228;actin-related protein 8 protein-coding ENSG00000113812 14672 09792 VALIDATED 1605289 ACTRT1 actin-related protein T1 This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010] X X X q25 127568642 127570083 - 127012622 127014058 - 127184941 127186382 - 12477932;15772651;15489334;12243744 139741 Q8TDG2 ABBA01047641;AF440739;AMYH01022957;AY251532;BC014597;CH471107;DB452140;DB510229;NG_021358;NM_138289;Z74696 AAH14597;AAM00432;AAP20055;ACE86838;ACE87525;EAX11839;NP_612146;Q8TDG2 Hs.680125 AIP1;ARIP1;ARP-T1;ARPT1;HSD27;KIAA0705;MGC26590 OTTHUMP00000023981;actin-related protein T1 APPROVED protein-coding ENSG00000123165 24027 06439 300487 REVIEWED 1607001 ACTRT3 actin-related protein T3 3 3 3 q26.2 167883851 167885293 - 170967407 170970377 - 169484709 169487683 - 6480464 15489334;14702039;12477932;11750065;18692047 84517 Q9BYD9 AB049117;ABBA01058704;ABBA01182499;AC078802;AI811210;AK055346;AMYH01013640;AMYH01013641;BC007289;NG_016363;NM_032487 AAH07289;ABM87440;ABW03891;BAB39481;BAB70906;NP_115876;Q9BYD9 Hs.135411 1715375;2110263 ARPM1__4373;RH120520 ARP-T3;ARPM1;MGC15664 actin related protein M1;actin-related protein M1;actin-related protein T3 APPROVED protein-coding ENSG00000184378 24022 12253 608534 VALIDATED 6769114 ACVR2B-AS1 ACVR2B antisense RNA 1 3 p22.2 38492518 38496311 - 100128640 ABBA01024819;ABBA01024820;AK025619;AMYH01013092;AMYH01013093;AP006191;NG_011791;NR_028389 Hs.570596 5015961;5017170;5118718 D11S3590;D15S1477;L29953 APPROVED miscrna ENSG00000229589 44161 VALIDATED 1344480 ACVR1 activin A receptor, type I Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008] 2 2 q23-q24 158301207 158403036 - 158592958 158732374 - 1580863;1559169;2313802;2317217;6480464;6484113;6907045;7240710 12770730;11675415;9714055 22748444;18292470;18234825;18019378;17572636;17496924;17351709;16344560;15761153;15489334;12651901;12477932;12032389;11969340;11266516;11069203;10652350;10583507;10085121;9872992;9748228;9501322;9267036;9136927;8702914;8622651;8612709;8599089;8397373;8389764;8248234;8006002;7890683;7791754;12065756;8242742;12702211;18436533;9884026;16642017;19574343;19543505;19506109;19400542;19330033;19300893;19299629;19148527;19085907;19064572;19028479;18952055;18854405;18830232;18684712;19929436;19335617;19736306;19796185;19896889;19996292;20011542;20463014;10631143;10665670;20634197;20677014;20716560;20734064;21297076;20577760;20736820;21377447;23169291;22977237;22884369;21248739;21617230;21878751;21668474;21791611;23227223;23455153;12857866;22630080;23260810;15611116;22971142;23142694;19758997;20663871;22949078 90 C9J1R3;C9JHJ7;C9JW28;D3DPA4;F5GY91;Q04771 A38807;ABBA01004847;AC013731;AC019186;AK297765;AK313630;AMYH01011199;BC033867;BC036748;CH471058;DA796090;HB448223;HI574330;HM015588;L02911;NG_008004;NM_001105;NM_001111067;Z22534 AAA36614;AAH33867;AAY15094;AAY24272;ADL14509;BAG60113;CAA02405;CAA80256;CAZ91465;CBX47654;EAX11438;EAX11439;EAX11440;EAX11441;EAX11442;EAX11443;NP_001096;NP_001104537;Q04771 Hs.470316 1331573;1331597;1341043;1644118;1659745;1705306;1753845;1776378;1849101;2180363;2189345;2218974;7187947 ACVR1_4033;D2S1294;D2S2000;D2S284;D4S1625;D4S2417;MARC_1909-1910:991931646:1;RH68903;RH69582;RH70974;SHGC-78610;SHGC-89211 ACTRI;ACVR1A;ACVRLK2;ALK2;FOP;SKR1;TSRI OTTHUMP00000162806;OTTHUMP00000204604;OTTHUMP00000204626;OTTHUMP00000240120;TGF-B superfamily receptor type I;activin A receptor, type II-like kinase 2;activin receptor type I;activin receptor type-1;activin receptor-like kinase 2;hydroxyalkyl-protein kinase;serine/threonine-protein kinase receptor R1 APPROVED protein-coding ENSG00000115170 171 00021 102576;135100 REVIEWED 1353319 ACY1L aminoacylase 1-like 96 178 1349804 ACVR1B activin A receptor, type IB This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 12 12 q13 50631753 50677127 + 52345451 52390863 + 1598735;1580888;1580863;1559169;2317217;6480464 11248065;14993131;12770730;9714055 12065756;12665502;8622651;14517293;18039968;16720724;11117535;9884026;9032295;8397373;19035567;17906079;15489334;15459392;15196700;15123686;12651901;12639945;12477932;12364468;12112843;12032389;12023024;11969340;11909953;11279102;11278302;11266516;10652306;9892009;9501322;8612709;22267736;12857866;12919325;20226172;20347265;20379614;7890768;8196624;8058741;9202237;9738003;7791754;11356828;20734064;20819778;21063444;15908921;21377836;23010638;20596523;11389842;19953087;21791611;19322201;21988832;22939624;23159635;23263486;19758997;20663871 91 F5H5Q2;P36896 ABBA01031621;ABBA01031622;AC025259;AK299120;AK299496;AL117643;AMYH01004470;AMYH01004471;BC000254;BC034008;BC040531;BT007072;CH471111;L10125;L10126;L31848;NG_022926;NM_004302;NM_020327;NM_020328;U14722;Z22536 AAA50246;AAA53349;AAA53350;AAA53351;AAA60555;AAA60556;AAH00254;AAH40531;AAP35735;ACE86741;ACE87427;BAH12954;BAH13051;CAA80258;EAW58216;EAW58217;EAW58218;NP_004293;NP_064732;NP_064733;P36896 Hs.438918 1694492;1720981;1747709;1747711;1748361;1795286;2134191;2162040;2174779 A003N21;ACVR1B_689;G42984;G59320;G64251;G64263;G64264;GDB:679112;RH69000 ACTRIB;ACVRLK4;ALK4;SKR2 OTTHUMP00000237285;OTTHUMP00000237286;OTTHUMP00000237287;OTTHUMP00000237289;OTTHUMP00000241624;activin A receptor, type II-like kinase 4;activin receptor type-1B;activin receptor-like kinase 4;serine/threonine-protein kinase receptor R2 APPROVED protein-coding ENSG00000135503 172 03193 601300 REVIEWED 734123 ACVR1C activin A receptor, type IC ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008] 2 2 q24.1 158097150 158193645 - 158383279 158485399 - 1580863;6480464;6907045 12063393;15531507;19275893;18951876;18784254;18480259;16603637;15815621;15489334;15196700;15150278;15107418;12606401;12477932;11485994;22318606;21356369;20734064;22086737;22939624 130399 Q53SF5;Q8NER5 ABBA01004847;AC019186;AC079750;AF525679;AF525680;AF525681;AMYH01011196;AMYH01011197;AMYH01011198;AMYH01011199;AW014016;AY127050;BC022530;BC030101;BI601014;CH471058;CS173113;CS173115;CS173117;NM_001111031;NM_001111032;NM_001111033;NM_145259 AAH22530;AAM93495;AAP21993;AAP21994;AAP21995;AAX88951;AAY15093;ABM86496;ABW03656;CAJ33702;CAJ33703;CAJ33704;EAX11444;EAX11445;EAX11446;NP_001104501;NP_001104502;NP_001104503;NP_660302;Q8NER5 Hs.562901 1761163;1784242;2113492;5014055 BZ943404;D1S3697;SHGC-145176;SHGC-156123 ACVRLK7;ALK7 ACTR-IC;ALK-7;OTTHUMP00000162803;OTTHUMP00000204601;OTTHUMP00000204602;OTTHUMP00000204603;activin receptor type IC;activin receptor type-1C;activin receptor-like kinase 7 1643253 BW133_H APPROVED protein-coding 18123 10608 608981 VALIDATED 737613 ACVR2B activin A receptor, type IIB Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008] 3 3 p22 38470794 38509637 + 38495790 38534633 + 1300351;1580863;1559169;6480464;6907045;7240710 734934;12770730 8622651;14517293;15621726;18436533;9916847;12493773;14738881;8161782;17356069;17893364;17347381;15489334;15451561;15342556;15123686;12782414;12651901;12477932;11969340;11882656;11459935;22318606;22431721;11306176;11279102;11278302;11266516;10766733;10702675;10391213;10212081;9748228;9621519;9202237;8702914;8612709;9872992;10504300;15304227;11094085;15064755;16845371;19453261;20424473;20466801;20734064;21353874;19903896;22939624;22296042;21864452;22395277;20663871 93 Q13705;Q71UM3 AB008681;AB209449;ABBA01024819;AF060200;AF060201;AF060202;AF075005;AMYH01013093;AP006191;BC096243;BC096244;BC096245;BC099642;BP352716;CH471055;NG_011791;NM_001106;X77533 AAC28458;AAC64515;AAH96243;AAH96244;AAH96245;AAH99642;BAA24180;BAD92686;CAA54671;EAW64536;NP_001097;Q13705 Hs.174273 1682786;1793200;2133916;2149331;5014053;5015861;5022929;5115852;5491244;5493862;7185938 Acvr2b;D10S16;D1S3693;MARC_4816-4817:991938566:3;PMC202382P2;RH65433;RH99151;STS-N30308;ksks333;ksks390 ACTRIIB;ActR-IIB;HTX4;MGC116908 OTTHUMP00000161965;activin receptor type-2B APPROVED protein-coding 174 04106 602730;613751 REVIEWED 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) 7240710 182 104310;269600;603075;611771 731811 ACVR2A activin A receptor, type IIA This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013] 2 2 q22.3 148319040 148404863 + 148602570 148688393 + 1580863;1559169;2301061;2301065;2317217;2325239;6480464;6907045 12770730;16337854;14988818;9714055;9076583 16982625;19503063;19574343;20011542;20197483;20200332;20379614;20424473;14691305;12667445;12651901;12477932;12385827;12213882;12135884;12032389;11969340;11882656;11266516;11069203;10702675;10681527;10638976;10504300;10323406;10187774;9872992;9748228;8702914;8640777;8622651;8612709;8243335;8242742;1646080;1311955;9892009;9202237;9032295;12665502;10746731;7890768;18436533;14738881;1314589;17356069;19308291;19126782;19064572;18941508;18781190;18001154;17472960;17456004;17258738;16672363;16380996;15815621;15621726;15489334;15451561;20339536;22296042;20634197;20734064;22723898;19366699;21139048;21906983;22001236;16344560;16461635;19386982;20801928;20886391;21353880;21378277;21490791;21976273;22085900;22528352;22848350;22949641;8358434;8889548;8889549;8971337;15123239;23263486 92 B4DWQ2;P27037 AA125825;ABBA01028014;ABBA01028015;ABBA01028016;AC009480;AK301629;AK314124;AMYH01011152;AMYH01011153;AW162986;BC067416;BC067417;BC067418;BC069707;BG616903;BM503220;BU676046;BX645435;CH471058;D31770;DA531622;DN918410;JA738723;M93415;NM_001278579;NM_001278580;NM_001616;T07746;W03601;X62381;X63128 AAA35504;AAH67417;AAH67418;AAH69707;AAX93050;BAA06548;BAG36815;BAG63114;CAA44245;CAA44839;CCF77014;EAX11561;EAX11562;NP_001265508;NP_001265509;NP_001607;P27037 Hs.470174 1650600;1686654;1727823;1784322;2182105;2191369;5015988;5021718 Acvr2a;G63177;MARC_17905-17906:1025019334:1;RH68541;RH98206;SHGC-83971;STS-X62381;ksks388 ACTRII;ACVR2 OTTHUMP00000197917;OTTHUMP00000197918;activin receptor iia;activin receptor type-2A APPROVED protein-coding ENSG00000121989 173 00025 102581 REVIEWED 1603401 AD7C-NTP neuronal thread protein AD7c-NTP This gene is unusual in that its coding sequence is derived almost entirely from a cluster of different Alu repeat sequences. However, the mRNA and the encoded protein have been shown to be expressed in neurons, and overexpressed in brains with Alzheimer's disease. In vitro studies also demonstrated that abnormal expression of this gene promoted neuritic sprouting and cell death, associated with dementia in Alzheimer's disease. p36 9399956;15652152;15346770;11897561 27308 O60448 AF010144 AAC08737;O60448 AD7CNTP protein-coding 07595 1345672 AD5 Alzheimer disease 5 7240710 9333264;10712207 8081 1298109;1335012;7186564 D12S1045;D12S98 185 104300 1352202 ACY3 aspartoacylase (aminocyclase) 3 11 11 11 q13.2 64744479 64752583 - 67166602 67174706 - 67410026 67418130 - 1580863;6480464;6907045 15489334;14656720;12477932;19664597;19486448;17207965 91703 E9PRA7;Q96HD9 ABBA01024026;AF359506;AMYH01003748;AP003385;AY032593;AY040761;AY169233;BC008689;CH471076;NM_080658 AAH08689;AAK51135;AAK94770;AAM00248;AAN87896;ADQ32340;EAW74663;EAW74664;NP_542389;Q96HD9 Hs.126265 1339809 D11S4155 ACY-3;HCBP1;MGC9740 HCV core-binding protein 1;OTTHUMP00000235614;OTTHUMP00000235615;acylase III;aminoacylase-3;aspartoacylase-2;hepatitis C virus core-binding protein 1 protein-coding ENSG00000132744 24104 12422 614413 VALIDATED 7174907 ADAD1P1 adenosine deaminase domain containing 1 (testis-specific) pseudogene 1 3 39328225 39329389 + 100422386 ABBA01024808;AC092053;AMYH01013099;NG_025689 pseudo 44550 INFERRED 1351880 ACY1 aminoacylase 1 This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010] 3 3 p21.1 51992603 51998258 + 52017300 52023218 + 1298689;1580863;6480464;6907045;7240710 1707030 8394326;18341290;17045186;16465618;16274666;16189514;15489334;12933810;12477932;8357837;6948533;2542383;11154063;11250542;12548635;15028279;15927344;15953868;16313167;16404153;16889417;16962797;17516490;17562838;20480396;2745715;373141;6248297;6781469;6803586;7974002;21414403;21128244;21832049;21906983;21987572;21044950;21963094;21988832;23317546 95 B4DNW0;C9JYZ0;F8WC59;Q03154 ABBA01024516;AC115284;AK298274;AMYH01013181;BC000545;BC003023;BC014112;BE269642;CD014023;CD014026;CD014027;CH471055;D14524;D16307;L07548;NG_012036;NM_000666;NM_001198895;NM_001198896;NM_001198897;NM_001198898 AAA02852;AAH00545;AAH03023;AAH14112;ABM82834;ABM87833;BAA03397;BAA03814;BAG60535;EAW65181;NP_000657;NP_001185824;NP_001185825;NP_001185826;NP_001185827;Q03154 Hs.334707 1658480;1683279;1740227;1743077;1788704 D3S1660;GDB:251741;RH11608;RH135818;RH66446 ACY-1;ACY1D;ACYLASE ACY-1;N-acyl-L-amino-acid amidohydrolase;OTTHUMP00000212459;OTTHUMP00000212462;OTTHUMP00000212463;OTTHUMP00000212464;OTTHUMP00000212465;OTTHUMP00000220363;acylase;aminoacylase-1 APPROVED protein-coding ENSG00000114786;ENSG00000243989 177 00092 104620;609924 REVIEWED 7174904 ADAD1P2 adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 18 47590162 47590856 + 100422407 ABBA01018667;AC091044;AMYH01008993;NG_026329 pseudo 44552 INFERRED 737253 ACVRL1 activin A receptor type II-like 1 This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008] 12 12 q13.13 50587469 50603412 + 52301202 52317145 + 1580863;1598736;1300352;1601117;1300250;1601116;1559169;5128837;5128842;6480464;6484113;7240710 11586351;15024723;14684682;11062473;17392319;12770730;20056902;20228181 17219009;22493445;16752392;12453878;17068149;12393874;15702480;18029348;19508727;19494318;19366699;19270816;19051722;18972447;18949376;18855162;18829861;18673552;18607909;18543223;18498373;18333754;18312453;18309101;18285823;18187665;18159113;18065769;17786384;17620321;17388964;17311849;17224686;12065756;8242742;11279102;11278302;11170071;10767348;10716993;10694922;10187774;9651680;9245985;8928814;8717052;8640225;8397373;16941203;16861286;16785228;16776339;16705692;16542389;16540754;16525724;16470589;16429404;16179574;15951295;15880681;15712271;15712270;15687131;15611116;15517393;15489334;14702039;14580334;12920067;12477932;12114496;11484689;11356828;20587022;20501893;21158752;22799562;11266516;16049014;18974388;19357124;19506300;19592636;19903896;20065063;20346360;20424473;20124460;20414677;19913121;20628086;20734064;21212415;23048070;21546842;21967607;21791611;22028876;22233626;20301525;22013081;23124896;23263486;22277251;22677372;22718755;19758997;21465483;22391627;22632830;23447486 94 D9IPD9;E7EN07;F8W0N2;G3V1W8;H3BTZ2;P37023 A38805;ABBA01031620;AC025259;AK056725;AK298493;AK300619;AK303331;AMYH01004469;BC042637;CH471111;DN999570;HM161905;HM161906;L17075;NG_009549;NM_000020;NM_001077401;U77707;U77708;U77709;U77710;U77711;U77712;U77713;Z22533 AAA16160;AAB61900;AAH42637;ADJ79922;ADJ79923;ADZ15645;BAG60701;BAG62312;BAG64396;CAA02404;CAA80255;EAW58211;EAW58212;EAW58213;EAW58214;NP_000011;NP_001070869;P37023 Hs.591026 1337891;1747707;1776096;1855039;5107054;5107056;5107058;5107060;7186559 D12S1677;D12S2187;D12S2188;D12S2189;D12S2190;G64249;RH46550;STS-T96544 ACVRLK1;ALK-1;ALK1;HHT;HHT2;ORW2;SKR3;TSR-I OTTHUMP00000241377;OTTHUMP00000241379;TGF-B superfamily receptor type I;activin A receptor, type II-like kinase 1;activin receptor-like kinase 1;serine/threonine-protein kinase receptor R3 APPROVED protein-coding ENSG00000139567 175 03181 600376;601284 REVIEWED 1351089 ACYP1 acylphosphatase 1, erythrocyte (common) type Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase, on the basis of their tissue localization. This gene encodes the erythrocyte acylphosphatase isoenzyme. Alternatively spliced transcript variants that encode different proteins were identified through data analysis. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 55557594 55568402 - 74589677 74600489 - 75519924 75530736 - 1298556;1580863;6480464;6907045 7796909 3026468;15489334;14992377;12508121;12477932;12409302;9730610;2169259;1645713;21832049;21890473;21906983 97 G3V2U7;G3V3F8;G3V597;P07311 ABBA01030707;AC007055;AK312101;AL049780;AMYH01005857;AW390293;BC035568;BE467248;BG614847;BX104912;CH471061;NM_001107;NM_203488;X84194 AAD31937;AAH35568;BAG35037;CAA58987;EAW81216;NP_001098;NP_982355;P07311 Hs.18573 1740671;1856698;2107813;2167671 A007H05;ACYP1_8191;D14S1172;RH70143 ACYPE OTTHUMP00000246802;OTTHUMP00000246804;OTTHUMP00000246805;acylphosphatase, erythrocyte isozyme;acylphosphatase, organ-common type isozyme;acylphosphatase-1;acylphosphate phosphohydrolase 1 APPROVED protein-coding ENSG00000119640 179 02928 600875 REVIEWED 1350765 ACYP2 acylphosphatase 2, muscle type Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. [provided by RefSeq, Jul 2008] 2 2 p16.2 54195914 54385941 + 54342410 54532437 + 1580863;6480464;6907045 22522822;8268218;18809411;18649358;16084386;15670608;15489334;12477932;12409302;11799398;10542090;9395090;9070879;7796909;7487897;6100723;3026468;19851296;20198315;20379614;21658281;20877624 98 E9PF46;F8WA34;P14621 ABBA01075249;ABBA01075250;ABBA01075251;ABBA01075252;AC008280;AC073879;AC092622;AC108929;AK307096;AMYH01010357;AMYH01010358;AMYH01010359;BC012290;BF739886;CA308062;CH471053;NM_138448;X84195 AAH12290;AAX88874;AAY14721;CAA58988;EAX00152;EAX00153;EAX00154;EAX00155;EAX00156;EAX00157;NP_612457;P14621 Hs.516173;Hs.642983 1681482;1698536;1720095;1752025;1753523;1784272;2107815;2163248 ACYP2_8192;RH102819;RH123789;RH35993;RH92612;SHGC-105943;SHGC-107444;SHGC-172627 ACYM;ACYP OTTHUMP00000159620;OTTHUMP00000200601;OTTHUMP00000200602;acylphosphatase, muscle type isozyme;acylphosphatase-2;acylphosphate phosphohydrolase 2 APPROVED protein-coding ENSG00000170634 180 00028 102595 REVIEWED 1605272 ADAL adenosine deaminase-like 15 15 15 q15.3 20393719 20416958 + 41410217 41428902 + 43622872 43646096 + 6480464 12477932;21755941;23645737 161823 H3BQR9;H3BUD6;Q6DHV7 ABBA01038350;AC009852;AC018924;AK126583;AK298870;AMYH01006589;BC075857;BQ015642;BX647599;CA436653;CH471125;NM_001012969;NM_001159280 AAH75857;BAG54348;BAG60990;EAW92598;EAW92599;NP_001012987;NP_001152752;Q6DHV7 Hs.533913 1671677;5015879;5022588;5094004 A010A25;D5S1597E;G33049;GDB:314949 DKFZp313B2137;FLJ44620 adenosine deaminase-like protein protein-coding ENSG00000168803 31853 11779 VALIDATED 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) 4 4 4 q27 120683547 120734368 + 123519618 123570389 + 123300121 123350947 + 6480464 19302705;18311140;17558408;16344560;14702039;12477932;9541871;7543294;20549515;20553587;17554300;19523143;21297633;21829393 132612 C9JAT9;C9JGM6;Q96M93 ABBA01044734;ABBA01044735;AC022489;AK057303;AK093297;AMYH01014492;BC040229;CH471056;DB027040;DB040584;DB058857;DB059180;HC007332;NM_001159285;NM_001159295;NM_139243 AAH40229;ABM84128;ABM84129;ABM87529;ABM87530;BAB71416;BAC04125;CBH19471;EAX05228;EAX05229;EAX05230;EAX05231;EAX05232;EAX05233;EAX05234;NP_001152757;NP_001152767;NP_640336;Q96M93 Hs.518957 FLJ32741;Tenr OTTHUMP00000196372;OTTHUMP00000196373;OTTHUMP00000196374;adenosine deaminase domain-containing protein 1;testis nuclear RNA-binding protein protein-coding ENSG00000164113 30713 15594 614130 VALIDATED 6771240 ADAM12-OT1 ADAM12 overlapping transcript 1 (non-protein coding) q26.2 14702039;20404130 100967225 AK055628 Hs.594351 1651064;1665233;1774738 A006V29;D10S2377;RH15686 CAR10 miscrna 43841 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 192 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 191 1316754 ADAM11 ADAM metallopeptidase domain 11 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene represents a candidate tumor supressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 39547073 39569717 + 40192094 40214740 + 42836568 42859214 + 1580863;6480464 9693107;8252040;15203218;15146197;14759258;12477932;11545539;11076863;7956356;7593158;16169070 4185 AAB29191;B4DKD2;H7BY08;K7EKA8;O75078 AB009675;ABBA01028347;ABBA01028348;ABBA01028349;AC005180;AK296512;AMYH01008428;AMYH01008429;BC144550;CD630831;CD630842;CH471178;CN418442;D17390;D31872;NM_002390 AAB29191;AAI11917;BAA04213;BAA06670;BAA06671;BAA32352;BAG59144;EAW51578;EAW51579;EAW51580;NP_002381;O75078 Hs.6088 1654822;1795290;2127169;2145086;2148629;2149123;5114648;5491296 ADAM11_63;D17S1926;D17S2062;MARC3917-3918;RH18285;RH47484;RH68208;WI-18788 MDC ADAM 11;a disintegrin and metalloproteinase domain 11;disintegrin and metalloproteinase domain-containing protein 11 APPROVED protein-coding ENSG00000073670 189 01114 155120 REVIEWED 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 194 736149 ADA adenosine deaminase This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008] 20 20 q13.12 42681577 42713790 - 43248163 43280376 - 1304201;1300251;1300353;1624289;1624292;1624286;1624305;1624309;1624290;1580863;1300048;2313538;2313539;2313540;5128859;5128842;5128858;5128847;5128848;5128861;5128854;5128856;5128857;5128845;6480464;6907045;7240710 6090454;9478961;8227344;16501670;9605386;17259686;16641873;15969953;12472193;19166862;15168879;9784839;21161045;20228181;21320715;16860713;16754522;20809996;12194640;10410539;9255891;18561952 12809673;12774669;12712614;12477932;12381379;12150791;12113294;12104097;11901152;11780052;11534018;11354825;11125033;11121182;10506947;9674425;9414266;9299436;9247966;9225964;9154805;8589684;8299233;8242080;8125298;8031011;7570001;7371221;6688808;6546794;6526272;6208479;6198240;3839802;3839456;3838797;3560174;3348976;3028473;3010705;2783588;2770711;3182793;8452534;9361033;11999881;16670267;7594462;14684150;7599635;8894685;11772392;7759315;19470168;19237091;19172437;19086053;19019667;18794722;18768081;18680557;18673094;18597230;18562134;18560234;18357489;18302529;18222177;18218852;17696452;17536804;17397971;17340203;17287605;17243920;17181544;16970880;16886895;16724628;16410722;16224193;16221767;16133068;15983379;15761857;15632314;15489334;15281007;15257174;15063762;15016824;14726805;12935677;1856451;1807098;1696926;1284479;11278278;10899322;9330696;9103436;21919946;21365880;20347569;21269755;20651391;20581655;22614344;18029348;19026999;19628957;19633200;19668260;19703146;19789510;19845893;19901882;20147632;20174870;20180986;20306731;20392501;20414589;20480728;20522203;8101391;20548128;19521708;21198750;19913121;20453107;20554694;20590444;20615890;20628086;20872567;20805743;20943049;20301656;20959412;21496384;20412337;22952909;20836741;21359089;21593678;21725047;22086524;22257696;21860532;22184407;21640091;21865054;21906983;21044950;22104430;23193172;21734253;22719194;21988832;23128233;23240012;21461854;21350874;21856036;22505724;23066321;22942500 100 F5GWI4;F5GXW0;F5GYD4;P00813 ABBA01052645;ABBA01052646;AK123988;AK223397;AL139352;AL832305;AMYH01011934;BC007678;BC040226;BI601734;CH471077;HH769637;HH769781;M13792;NG_007385;NM_000022;X02189;X02190;X02994;Z97053 AAA78791;AAH07678;AAH40226;ABM83607;ABM86850;BAD97117;CAA26130;CAA26734;CBX85542;CBX85614;EAW75904;EAW75905;EAW75906;EAW75907;NP_000013;P00813 Hs.654536 1668271;1741129;1741141;1741143;1741367;1741409;1741413;1743909;1743911;1744831;1744833;1791416;2114006;2115173 ADA;AL023480;D20S1110;GDB:177907;GDB:178379;GDB:178380;GDB:180925;GDB:181143;GDB:181184;GDB:375441;GDB:375467;GDB:568809;GDB:568814;PMC109465P1 OTTHUMP00000031785;OTTHUMP00000240459;OTTHUMP00000240461;adenosine aminohydrolase;adenosine deaminase APPROVED protein-coding ENSG00000196839 186 00038 102700;608958 REVIEWED 1602291 ADAD2 adenosine deaminase domain containing 2 16 16 16 q24.1 68526534 68532570 + 82782245 82788273 + 84224723 84230772 + 16344560;14702039;12477932;8889548;21832049;22589738 161931 H3BNP6;Q8NCV1 ABBA01016918;AC009123;AF447586;AK093046;AK093523;AK131102;AK315171;AMYH01007867;BC033491;BU731201;CH471114;DB036324;NM_001145400;NM_139174 AAH33491;AAM22869;ADZ15469;BAC04032;BAC85152;BAG37613;EAW95491;EAW95492;EAW95493;EAW95494;NP_001138872;NP_631913;Q8NCV1 Hs.8977 5020948 G35510 FLJ00337;TENRL OTTHUMP00000174989;adenosine deaminase domain-containing protein 2;testis nuclear RNA-binding protein-like protein-coding ENSG00000140955 30714 14107 VALIDATED 735847 ADAM10 ADAM metallopeptidase domain 10 Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008] 15 15 q22 56675802 56829469 - 58888510 59042177 - 1300252;1580863;2302204;1559151;2317976;5129489;6480464;5686846;6484113;6907045 12354787;17761886;15950787;15688065;20621845;21145125 9016778;8694785;18676862;12714508;11831872;18373975;12475894;19541935;19435795;19394555;19357285;19344981;19278423;19260824;19144697;19091752;18981120;18979631;18971959;18952609;18642355;18603587;18514661;18480749;18420943;18381078;18355445;18215140;18200054;18074395;17965014;17895248;17727679;17699774;17557115;17290285;17187903;16942750;16806063;16751190;16735514;16648485;16627989;16390331;16309826;16263699;16263114;16239146;15958533;15905513;15507448;15300588;15280425;15280379;15182369;14707550;14702039;14636066;14627705;12960155;12832423;12815056;12794186;12782344;12730960;12665519;12629514;12590602;12568494;12535668;12477932;12438920;12176995;12080182;11839628;11786905;11511685;11477090;10958785;10737800;10423016;9618175;9441766;9344679;9305925;7822279;7593158;11741929;21103979;21196064;20070888;10527948;19564338;19587294;19603142;19608551;19632330;19665015;19667218;19672558;19704010;19783906;19823572;19826051;19865098;20059578;20136654;20348102;20371803;20381196;20711474;20443867;20624979;20676056;20814017;19913121;20628086;20677014;21259244;17192395;20863729;21123580;21171968;21368228;22965144;21969210;21695060;21441465;21402705;21611732;22939629;23035126;21569301;21576249;21956108;21804545;18781797;22116825;21876729;21625236;19114711;19426159;22167753;22474035;22586143;22770404;23674691;23676497;21906983;22006996;22065584;21959176;22689693;17170699;23192951;22641052;22613720;22933306;23460612;22923171;22940701;23546882;22505724;22572541;23124962 102 B4DU28;B5MC71;C9J9B4;H0YK32;H0YK87;H0YNC5;H3BS53;O14672 ABBA01038983;AC018904;AC091046;AF009615;AK023460;AK300472;AMYH01006679;AMYH01006680;AMYH01006681;BC055087;BC104659;BC126253;BC143935;BE934813;BX372217;CH471082;NM_001110;Z48579 AAC51766;AAI26254;BAG62190;CAA88463;EAW77539;EAW77540;EAW77541;NP_001101;O14672 Hs.578508 1339275;1646218;1678519;1706564;1736474;1758819;1773329;1795288;2124869;2127507;2172931;2179379;5019637;7190661;7190665 A002R12;ADAM10_1576;D15S1248;D15S148;D15S686E;G32289;RH17532;RH45136;RH45644;RH45709;RH66959;SHGC-150627;SHGC-81261 AD10;CD156c;HsT18717;MADM;kuz ADAM 10;CDw156;OTTHUMP00000163471;OTTHUMP00000165066;a disintegrin and metalloprotease domain 10;a disintegrin and metalloprotease domain 10;a disintegrin and metalloproteinase domain 10;disintegrin and metalloproteinase domain-containing protein 10;kuzbanian protein homolog;mammalian disintegrin-metalloprotease APPROVED protein-coding 188 03723 602192 REVIEWED 6898435 ADAM1B ADAM metallopeptidase domain 1B, pseudogene 12 112364998 112366738 + 6480464 100420505 ABBA01019917;AC003029;AMYH01004752;NG_024129 pseudo 44366 INFERRED 1345474 ADAM1A ADAM metallopeptidase domain 1A, pseudogene 12 12 12 q24.13 111962428 111965067 + 110821350 110823989 + 112336867 112339706 + 6480464 9032439;10524237;11784061;16344560 8759 ABBA01019915;AC003029;AMYH01004752;CA427398;DA031170;NR_036636;Y09232 Hs.661708 ADAM1;ADAM1P;FTNAP;Ftna;PH-30a ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene;a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene APPROVED pseudo 187 VALIDATED 1317265 ADAM12 ADAM metallopeptidase domain 12 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene has two alternatively spliced transcripts: a shorter secreted form and a longer membrane-bound form. The shorter form is found to stimulate myogenesis. [provided by RefSeq, Jul 2008] 10 10 q26.3 127693415 128067055 - 127702898 128077127 - 1625347;1559174;1580863;2317976;6480464;6484113 15334463;15910695;15688065 7566181;19278423;19268722;19040574;19003798;18978109;18801731;18621736;18604515;18519826;18395873;18382998;18365756;18342566;18311789;18264967;18264948;18241035;18081311;17987603;17846126;17701664;17620406;17465398;17440933;16869727;16495931;16455653;16453284;16344560;16213489;16139919;15930294;15574885;15509542;15381692;15364951;15358598;15242759;14691998;12975309;12952982;12915587;12717386;12615925;12477932;12000744;12000741;11313349;11127814;11095942;10944520;10849447;10831617;10788519;22662180;9642263;9417060;15280379;21258805;20509156;20509157;21330122;20090292;20187159;20457602;20230315;11786904;15574124;16385451;19213876;19544290;19544357;19609547;19736612;19769962;19837132;20218926;20379614;20305677;21103624;21034452;21173277;21493715;21277576;20688878;21518768;22927907;23421942;22808268;21240579;18029348;22589738;21617380;22015022;22089237;21501859;22678798;21875931;22267082;22284607;22926263;22903068;23135915;22676623;22767580;22882974;23458101;23319000;23400010;23589494 8038 A8K6G4;O43184;Q5JRP2 ABBA01034174;ABBA01034175;ABBA01034176;ABBA01034177;ABBA01034178;ABBA01034179;AC022015;AC026226;AC063963;AF023476;AF023477;AK127856;AK291629;AL589787;AL691463;AMYH01003164;AMYH01003165;AMYH01003166;AMYH01003167;AMYH01003168;AY358878;BC060804;CB960379;CH471066;DA027173;DA863951;DR004947;HC006764;NG_029050;NM_003474;NM_021641 AAC08702;AAC08703;AAH60804;AAQ89237;BAF84318;CBH19188;EAW49205;EAW49206;EAW49207;EAW49208;EAW49209;NP_003465;NP_067673;O43184 Hs.594351 1340657;1644271;1651064;1651373;1659473;1665233;1669678;1674232;1690095;1696002;1712312;1713085;1739489;1751909;1772796;1795292;1853879;2126780;2138111;2139505;2158822;2158850;2176161;7187841 A006V29;A008K16;ADAM12_693;D10S1602;D10S575;D9S2055;G17495;G31019;G54065;RH120330;RH15686;RH44497;RH44607;RH69950;RH91967;SHGC-105790;SHGC-33384;SHGC-35931;SHGC-82769;WI-17464;WI-17472;WI-17697;WI-18158 MCMP;MCMPMltna;MLTN;MLTNA OTTHUMP00000020726;OTTHUMP00000020727;disintegrin and metalloproteinase domain-containing protein 12;meltrin-alpha APPROVED protein-coding ENSG00000148848 190 04092 602714 REVIEWED 1345289 ADAM20P1 ADAM metallopeptidase domain 20 pseudogene 1 14 14 14 q24.2 50998968 51002976 - 70004761 70008769 - 70935593 70950473 - 10524237 317760 ABBA01030812;AF158638;AL357153;AMYH01005828;AMYH01005829;BC047939;NR_037933 Hs.188369 2113876 AB070079 C14orf55 APPROVED pseudo ENSG00000259158 20102 VALIDATED 6482992 ADAM20P2 ADAM metallopeptidase domain 20 pseudogene 2 4 176495753 176497344 + 100533671 ABBA01070404;AC105925;AMYH01014728;NG_028850 pseudo 43901 INFERRED 6482940 ADAM20P3 ADAM metallopeptidase domain 20 pseudogene 3 4 q35.2 188667288 188669359 - 20210993;9847074 644325 ABBA01070581;AC115540;AMYH01014786;NG_023541 pseudo 43902 INFERRED 1345378 ADAM20 ADAM metallopeptidase domain 20 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 51053033 51065687 - 70058831 70071485 - 70989078 71001732 - 1580863;6480464 9469942;12477932;11807715;10524237 8748 O43506 AA400588;ABBA01030812;AF029899;AF158643;AL357153;AMYH01005829;BC025378;CH471061;HC006766;HC044543;NM_003814 AAC52041;AAD55254;AAH25378;ABW03729;CBH19189;CBH30601;EAW81037;NP_003805;O43506 Hs.177984 1699656;1795298 ADAM20_695;RH103432 ADAM 20;OTTHUMP00000236151;a disintegrin and metalloproteinase domain 20;disintegrin and metalloproteinase domain-containing protein 20 APPROVED protein-coding ENSG00000134007 199 04754 603712 REVIEWED 733223 ADAM15 ADAM metallopeptidase domain 15 The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 q21.3 153290386 153301876 + 155023748 155035252 + 1559176;2325247;6480464 15818704;17465204 10531379;9516430;19487280;19253070;19207106;19054571;18695922;18434311;18387333;18296648;18281484;17937806;17575078;17416588;17080222;16894352;16756724;16303743;15756594;15618016;15489334;15384173;15358598;15263807;14707550;12897135;12858436;12777399;12615925;12477932;12243749;12091380;11882657;11840679;11839628;11741929;10842103;10828588;10652535;9914169;9039960;9016778;8889548;8617717;10527948;16189514;15280379;22621184;16374509;19550037;19718658;20213810;18774960;20189953;20851104;21196774;21728902;21190186;21906983;22544741;21987572;22505472;21963094;23000965;23365087 8751 A6NG98;B4DMH8;Q71S68 AB209157;ABBA01016720;AF314227;AK000667;AK075498;AK295614;AK296925;AK297468;AK308172;AL451085;AL691442;AMYH01001424;AW290953;AY518542;AY560593;AY560594;AY560595;AY560596;AY560597;AY560598;AY560599;AY560600;AY560601;AY576417;BC014566;BM971880;BT009764;NG_029667;NM_001261464;NM_001261465;NM_001261466;NM_003815;NM_207191;NM_207194;NM_207195;NM_207196;NM_207197;NR_048577;NR_048578;NR_048579;U41767;U46005 AAC50404;AAC51112;AAH14566;AAM44189;AAP88766;AAR99331;AAS48590;AAS48591;AAS48592;AAS48593;AAS48594;AAS48595;AAS48596;AAS48597;AAS72298;AAS72991;AAS72992;AAS72993;AAS72994;AAS72995;AAS72996;AAS72997;AAS72998;AAS72999;AAS73000;ABW03624;BAD92394;BAG52157;BAG59477;BAG59890;BAH12126;NP_001248393;NP_001248394;NP_001248395;NP_003806;NP_997074;NP_997077;NP_997078;NP_997079;NP_997080;Q13444 Hs.312098 2185149 RH66543 MDC15 ADAM 15;MDC-15;OTTHUMP00000015780;OTTHUMP00000033236;OTTHUMP00000231570;OTTHUMP00000231571;OTTHUMP00000231572;OTTHUMP00000231573;OTTHUMP00000231574;OTTHUMP00000231575;OTTHUMP00000231576;OTTHUMP00000231577;OTTHUMP00000231578;a disintegrin and metalloproteinase domain (adam) 15 (metargidin);a disintegrin and metalloproteinase domain 15 (metargidin);disintegrin and metalloproteinase domain-containing protein 15;metalloprotease RGD disintegrin protein;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15;metargidin APPROVED protein-coding ENSG00000143537 193 05674 605548 REVIEWED 1350533 ADAM18 ADAM metallopeptidase domain 18 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 8 8 8 p11.22 38393916 38539440 + 39561299 39706644 + 39442087 39587583 + 1580863;6480464 10395895;15489334;12975309;12477932;12200459;9665629;8125298;20379614;16344560;22174851 8749 E5RIP0;E5RK96;Q0VAI3;Q9Y3Q7 ABBA01015910;AC109633;AC136365;AJ133004;AK225744;AK313961;AMYH01018657;AY358321;BC034624;BC070279;BC121045;BC121046;CH471080;DB049415;NM_001190956;NM_014237 AAH34624;AAH70279;AAI21046;AAI21047;AAQ88687;BAG36677;CAB40812;EAW63276;EAW63277;NP_001177885;NP_055052;Q9Y3Q7 Hs.127930 1336965 DXS1222 ADAM27;MGC41836;MGC88272;tMDCIII ADAM 18;OTTHUMP00000225672;OTTHUMP00000225673;OTTHUMP00000225674;OTTHUMP00000225676;a disintegrin and metalloproteinase domain 18;disintegrin and metalloproteinase domain-containing protein 18;disintegrin and metalloproteinase domain-containing protein 18; putative ADAM18 gene product;putative ADAM18 gene product;tMDC III;transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III APPROVED protein-coding ENSG00000168619 196 07469 REVIEWED 69085 ADAM2 ADAM metallopeptidase domain 2 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 8 8 8 p11.2 38553126 38647899 - 39720411 39814936 - 39601254 39695779 - 1580863;68863;6480464 9358007 9041139;18292840;15489334;12477932;11882657;11784061;10518536;9889149;9070941;8702389;16049941;17023585;19951893;22926424 2515 B4DWY7;Q6P2G0;Q99965 ABBA01015910;AC136365;AJ133005;AK301734;AMYH01018657;AP005902;BC034957;BC064547;BG719616;BI460477;CH471080;HC044539;NM_001278113;NM_001278114;NM_001464;U38805;U52370;X99374 AAC51110;AAD04206;AAH34957;AAH64547;ABM82541;ABM85733;BAG63199;CAA67753;CAB40813;CBH30599;EAW63273;EAW63274;EAW63275;NP_001265042;NP_001265043;NP_001455;Q99965 Hs.177959 1749951;2129898;2216984 ADAM2_2713;RH70674;SHGC-111659 CRYN1;CRYN2;CT15;FTNB;PH-30b;PH30;PH30-beta ADAM 2;OTTHUMP00000225677;OTTHUMP00000225678;OTTHUMP00000225679;OTTHUMP00000225680;PH-30;PH30-beta;cancer/testis antigen 15;disintegrin and metalloproteinase domain-containing protein 2;fertilin beta;fertilin subunit beta APPROVED protein-coding ENSG00000104755 198 03322 601533 REVIEWED 735923 ADAM19 ADAM metallopeptidase domain 19 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013] 5 5 q33.3 156836890 156935346 - 156904312 157002783 - 1580863;1559267;2317976;6480464 14673146;15688065 21239057;19079262;18714391;17112471;16827870;15896713;15242783;14702039;12682046;12477932;12463424;12393862;12058067;12006600;11708814;11162584;11116142;10887142;9806848;9461614;8358434;10531379;20889312;18458692;19423540;19727588;20010835;20406964;20438785;20460109;21270819;14719095;16772875;19601835;23000965;23429442;23284291 8728 E5RIS2;E7ENW4;E9PD32;H0YC66;Q8TBU7;Q9H013 ABBA01044269;ABBA01044270;AC008676;AC008694;AC106801;AF134707;AF311317;AF326918;AK091464;AK093535;AK308182;AL049415;AMYH01015748;BC024214;BC033132;CH471062;HY088077;NM_033274;Y13786 AAF22162;AAG50282;AAH24214;AAH33132;AAI40324;AAK07852;BAG52367;CAC20585;EAW61595;EAW61596;EAW61597;EAW61598;NP_150377;Q9H013 Hs.483944 1697526;1731140;1785364;1788740;1795296;2163180 ADAM19_1480;D5S378;RH102268;RH128156;RH48594;SHGC-112298 FKSG34;MADDAM;MLTNB ADAM 19;ADAM metallopeptidase domain 19 (meltrin beta);OTTHUMP00000160734;OTTHUMP00000224162;a disintegrin and metalloproteinase domain 19 (meltrin beta);disintegrin and metalloproteinase domain-containing protein 19;meltrin beta;meltrin-beta;metalloprotease and disintegrin dendritic antigen marker;metalloprotease-disintegrin meltrin beta APPROVED protein-coding ENSG00000135074 197 04704 603640 REVIEWED 731400 ADAM17 ADAM metallopeptidase domain 17 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq, Jul 2008] 2 2 p25 9546843 9613368 - 9629392 9695917 - 1559178;1580863;1300253;2292150;2313250;2302204;2312470;2317976;5129489;5686834;5686846;6480464;6484113;6907045 15878627;9812885;12655295;19581416;17761886;19633828;15688065;20621845;22029668;21145125 20871631;21175594;15308656;15182369;15146197;15102849;15066987;14625290;14532978;12972643;12947092;12832423;12810728;12755693;12730960;12714588;12711607;12706122;12668732;12621058;12606576;12568494;12535668;12477932;12474981;12441351;12147693;12135369;12058067;12207026;14970227;16034137;10527948;12743035;18373975;18483258;18625725;17786981;18276953;18383040;17010968;9034190;19541935;19435795;19324423;19298600;19296470;19278423;19253070;19171023;19154693;19150341;19124506;19091752;19082505;18979631;18978678;18922903;18824549;18818406;18713734;18676862;18638486;18636124;18600307;18493210;18490652;18442814;18426733;18396294;18355445;18281553;18238782;18171982;18167350;17999917;17942404;17714581;17608729;17438092;17405915;17360351;17227756;17155946;17081983;16982746;16942750;16912185;16900751;16806063;16641105;16478662;16376986;16336275;16332693;16279945;16246259;16210695;16179345;16148149;16079149;15983030;15784625;15691827;15337756;15309730;12044879;11988096;11733179;10882063;10860581;10433800;10224132;9806848;9620803;9574564;9520379;9034191;8889548;11741929;15280379;22105359;22506015;22665490;22677042;21932060;22319627;22770404;19913121;20627730;20628086;20634891;18029348;10799478;11823465;15534001;16619241;17655843;17986144;19299578;19376560;19482949;19515085;19535569;19564338;19595713;19666115;19704010;19762488;19772640;19819120;19843672;19875451;19949420;19959661;20026129;20059578;20070837;20118276;20180536;20184396;20188673;20221248;20300049;20379614;9774383;9920899;20679348;20551051;20359533;20819075;19003995;12777399;20506406;20807704;21102583;20863729;21268712;21170088;20922190;21300824;20811902;22668812;22933306;22965144;23105116;22967992;23460612;23487023;21423656;21407195;21359495;21386996;23674691;21777519;21365281;21240579;20300969;22010916;21865167;21949123;21925169;21837402;21153921;21480393;21890473;21906983;22367719;22384041;22438584;22550340;22927435;22157716;21501859;22575642;22018416;22200661;22689693;22772468;22613720;23011796;22139867;17170699;23000965;23479224;23349873;23475633;22934512;22479555;23341882;23356982;22268729;22833676 6868 B2RNB2;E7EUI5;P78536 ABBA01015589;ABBA01015590;ABBA01015591;AC073195;AC080162;AC092206;AK289829;AMYH01010093;AMYH01010094;AY422721;BC062687;BC136783;BC146658;BM725368;BQ186514;BX339672;CH471053;CN258241;GQ402545;NG_029873;NM_003183;U69611;U69612;U86755;U92649 AAB51514;AAB51586;AAB53014;AAC39721;AAH62687;AAI36784;AAI46659;AAX93091;AAX93142;AAY14859;ACV30013;BAF82518;EAX00981;EAX00982;NP_003174;P78536 Hs.404914 1341332;1761889;1795294;2173627;5116962 ADAM17_1239;D15S981;RH70698;SHGC-145828;ha2389 ADAM18;CD156B;CSVP;MGC71942;NISBD;TACE ADAM 17;ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme);ADAM metallopeptidase domain 18;OTTHUMP00000115493;TNF-alpha convertase;TNF-alpha converting enzyme;TNF-alpha-converting enzyme;a disintegrin and metalloproteinase domain 17;disintegrin and metalloproteinase domain-containing protein 17;snake venom-like protease;tumor necrosis factor, alpha, converting enzyme APPROVED protein-coding ENSG00000151694 195 04703 603639;614328 REVIEWED 1346763 ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 14 14 14 q24.2 50776650 50778698 - 69782223 69784271 - 70712470 70714518 - 16520872;10524237 145241 ABBA01030818;AF158640;AL160191;AMYH01005826;DQ202398;NR_003951 ABA43715 Hs.712468 1699658 RH103433 ADAM21P a disintegrin and metalloproteinase domain 21 pseudogene APPROVED pseudo ENSG00000235812 19822 VALIDATED 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 205 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 204 1346074 ADAM24P ADAM metallopeptidase domain 24, pseudogene 8 8 8 p22 16292793 16294947 + 17333702 17373392 + 17327027 17329181 + 6480464 10395895;23251661 646479 ABBA01021584;AC124074;AMYH01018545;AP006248;NG_022410 1705078;1719619 RH123714;SHGC-78062 ADAM24 APPROVED pseudo 203 INFERRED 1352892 ADAM22 ADAM metallopeptidase domain 22 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010] 7 7 q21 87401638 87664390 + 87563566 87832204 + 1580863;6480464 9693107;16868027;19054571;18593599;18440780;17884303;17681454;16990550;16385342;15882968;15876356;14759258;12853948;12589811;12477932;11050470;10524237;18762889;20156119;20220021;20379614;22072566 53616 E7EPF1;E9PF78;F8WAD8;G5E951;H7C0Q9;H7C3I4;Q08AL8;Q9P0K1 AACC02000015;AB009671;ABBA01045860;ABBA01045861;ABBA01045862;ABBA01045863;AC004992;AC005075;AC005164;AF073291;AF155381;AF155382;AF158637;AF158642;AK125432;AK291010;AL133090;AMYH01017670;AMYH01017671;BC036029;BC062433;BC092465;BC125117;BC125118;CA429662;CH236949;CH471091;DR000609;NM_004194;NM_016351;NM_021721;NM_021722;NM_021723 AAD55251;AAD55253;AAF22476;AAF73288;AAF73289;AAH36029;AAH62433;AAH92465;AAI25119;AAP21878;AAS07417;BAA32349;BAA32350;BAF83699;BAG54196;EAW76913;EAW76914;EAW76915;EAW76916;EAW76917;EAW76918;EAW76919;EAW76920;EAW76921;EAW76922;EAW76923;EAW76924;EAW76925;EAW76926;EAW76927;EAW76928;EAW76929;NP_004185;NP_057435;NP_068367;NP_068368;NP_068369;Q9P0K1 Hs.256398 1681044;1681312;1691800;1696206;1712973;1713467;1795300;1856730;2146511;2183703 A002T31;ADAM22_1746;D7S1543;G42258;RH119592;RH120576;RH92490;RH93001;SHGC-79053;STS-N29801 ADAM 22;MDC2;MGC149832 ADAM 22;OTTHUMP00000174585;OTTHUMP00000174587;OTTHUMP00000174588;OTTHUMP00000207170;OTTHUMP00000207298;a disintegrin and metalloproteinase domain 22;disintegrin and metalloproteinase domain-containing protein 22;metalloproteinase-disintegrin ADAM22-3;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 APPROVED protein-coding ENSG00000008277 201 04751 603709 REVIEWED 1314846 ADAM21 ADAM metallopeptidase domain 21 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011] 14 14 14 q24.1 50988177 50990582 + 69993970 69996375 + 70918874 70926622 + 1580863;6480464 9469942;15489334;12477932;10524237;16344560 8747 Q9UKJ8 AA758110;ABBA01030812;AF029900;AF158644;AL357153;AL391223;AMYH01005828;BC109024;BC109025;CH471061;DB035527;NM_003813 AAC52042;AAD55255;AAI09025;AAI09026;EAW81035;NP_003804;Q9UKJ8 Hs.178748 1699658;1856613;2106413;2120887;5019809 A009X03;ADAM21_4034;G32933;RH103433;RH78730 ADAM 21;ADAM31;MGC125389 ADAM metallopeptidase domain 21, preproprotein;a disintegrin and metalloproteinase domain 21;disintegrin and metalloproteinase domain-containing protein 21 APPROVED protein-coding ENSG00000139985 200 04755 603713 REVIEWED 1313949 ADAM23 ADAM metallopeptidase domain 23 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013] 2 2 q33 207016613 207190930 + 207308368 207482685 + 1580863;6480464 12477932;9693107;19549921;19477226;19089928;16103878;16094384;15862898;15146197;15146195;14697522;10749942;10524237;19824886;20379614;20851106;22688191;21429053;19322201;14702039;22937229;8619474;9110174 8745 E7EWD3;H7C2M6;O75077 AB009672;ABBA01062663;ABBA01062664;ABBA01062665;AC009225;AC010731;AC079136;AF052115;AF158641;AJ005580;AK091800;AK129906;AK296844;AMYH01011440;AMYH01011441;BC132763;BC132765;CH471063;CN399765;CS072966;H11006;NG_029874;NM_003812;R43984 AAD55252;AAI32764;AAI32766;AAX93195;AAX93210;AAY14948;BAA32351;BAG59410;CAC20565;CAI93690;EAW70386;EAW70387;NP_003803;O75077 Hs.370287;Hs.591643 1335061;1336370;1645687;1663684;1663686;1679553;1698426;1751877;1759149;2115774;2131993;2133603;2133605;2143839;2174283;2175156;2181415;2182623;2191107 A002R48;A005A43;A005P25;D2S369;D2S422;G20230;G20399;MARC_14763-14764:1032183956:1;RH102758;RH16640;RH66377;RH81077;SHGC-105851;SHGC-1663;SHGC-3215;SHGC-37606;SHGC-56733;SHGC-60293;WI-14343 MDC-3;MDC3 ADAM 23;MDC-3;OTTHUMP00000163840;OTTHUMP00000206523;a disintegrin and metalloproteinase domain 23;a disintegrin and metalloproteinase domain 23 (ADAM23);disintegrin and metalloproteinase domain-containing protein 23;metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3 APPROVED protein-coding ENSG00000114948 202 04752 603710 REVIEWED 1344462 ADAM4 a disintegrin and metalloproteinase domain 4 8758 211 1352596 ADAM3B ADAM metallopeptidase domain 3B (pseudogene) 16 16 16 q12.1 34064812 34065518 - 48109058 48109764 - 49551557 49552263 - 11439107;9502432;9284909;9693117 1596 O00504 ABBA01000891;AC007861;AMYH01007654;NG_001526;NG_032972;Y10615 CAA71622 CYRN2 ADAM metallopeptidase domain 3B (cyritestin 2);a disintegrin and metalloproteinase domain 3b (cyritestin 2) APPROVED pseudo 210 INFERRED 1314448 ADAM30 ADAM metallopeptidase domain 30 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008] 1 1 1 p12 118666878 118669835 - 120237679 120240636 - 120436156 120439147 - 1580863;6480464 10512762;18591388;18372903;16710414;12975309;12477932;19862325;23128233 11085 Q8TBZ7;Q9UKF2 ABBA01068518;AF171932;AF171933;AK292483;AL359752;AMYH01000980;AY358734;BC028372;CH471122;HC006770;HC044499;NM_021794 AAF03780;AAF03781;AAH28372;AAQ89096;ABM81876;ABM85038;BAF85172;CBH19191;CBH30579;EAW56717;NP_068566;Q9UKF2 Hs.283011 1795302 ADAM30_207 svph4 ADAM 30;OTTHUMP00000014034;a disintegrin and metalloproteinase domain 30;disintegrin and metalloproteinase domain-containing protein 30 APPROVED protein-coding ENSG00000134249 208 05307 604779 REVIEWED 1347348 ADAM28 ADAM metallopeptidase domain 28 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. Alternative splicing results in two transcript variants. The shorter version encodes a secreted isoform, while the longer version encodes a transmembrane isoform. [provided by RefSeq, Jul 2008] 8 8 p21.2 24207525 24268671 + 24151580 24212726 + 1580863;6480464 8125298;10587367;19054571;18690470;17597069;17047053;16052521;15013428;12777399;12667064;11724793;10794709;10506182;20450360;20544843;12477932;19527685;19896699;21077327;20971063;20112342;21329817;21698479;21782798;21913264;23010875;23643150;22636800;20881960 10863 B4DDY3;E5RGY1;E5RJQ1;E7EMU1;H0YBG8;H0YBQ8;Q9UKQ2 ABBA01005549;AC044891;AC120193;AF137334;AF137335;AI475787;AI624552;AJ242015;AK225921;AK293382;AK303437;AMYH01018578;BC136478;BC144140;CH471080;NG_029394;NM_014265;NM_021777 AAD25099;AAD25100;AAI36479;BAG56894;BAG64485;CAB42085;EAW63608;EAW63609;NP_055080;NP_068547;Q9UKQ2 Hs.174030 1777961 RH79000 ADAM 28;ADAM23;MDC-L;MDC-Lm;MDC-Ls;MDCL;eMDC II;eMDCII OTTHUMP00000224870;OTTHUMP00000224872;a disintegrin and metalloproteinase domain 28;disintegrin and metalloproteinase domain-containing protein 28;epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II;epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II;metalloproteinase-like, disintegrin-like, and cysteine-rich protein L;metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L APPROVED protein-coding ENSG00000042980 206 08391 606188 REVIEWED 1351124 ADAM6 ADAM metallopeptidase domain 6, pseudogene 14 14 14 q32.33 86366419 86368958 - 105506864 105509403 - 106435819 106438358 - 6480464 14702039;9841928;16162398 8755 AB019441;ABBA01074086;AI024595;AK093400;AMYH01006100;NG_001019;NR_002224 BAG52709 Hs.662288 1686202 RH98683 C14orf96;tMDCIV a disintegrin and metalloproteinase domain 6 APPROVED pseudo ENSG00000233988 213 PROVISIONAL 1342886 ADAM29 ADAM metallopeptidase domain 29 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 4 q34 173168616 173228548 + 176076134 176135906 + 175839509 175899331 + 1580863;6480464 10512762;16344560;15802535;12477932;10644455;19340428;21618342 11086 D6RBU0;D6RHU0;D6RIU9;Q9UKF5 ABBA01070397;AC105914;AF134708;AF171929;AF171930;AK292410;AMYH01014726;BC036070;BU176889;CH471056;DB039551;DB044176;DB051105;DB073142;DB078034;DB078125;DB078627;DB080702;HC006768;HC044545;NM_001130703;NM_001130704;NM_001130705;NM_001278125;NM_001278126;NM_001278127;NM_014269 AAF03777;AAF03778;AAF22163;AAI66695;AAY41055;BAF85099;CBH19190;CBH30602;EAX04727;EAX04728;NP_001124175;NP_001124176;NP_001124177;NP_001265054;NP_001265055;NP_001265056;NP_055084;Q9UKF5 Hs.126838 1774172 D4S515 CT73;svph1 ADAM 29;OTTHUMP00000218945;OTTHUMP00000218946;OTTHUMP00000218947;OTTHUMP00000218948;OTTHUMP00000218949;a disintegrin and metalloproteinase domain 29;cancer/testis antigen 73;disintegrin and metalloproteinase domain-containing protein 29;metallaproteinase-disintegrin (ADAM29) APPROVED protein-coding ENSG00000168594 207 05306 604778 REVIEWED 1313212 ADAM33 ADAM metallopeptidase domain 33 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 20 20 p13 3596620 3610738 - 3648620 3662738 - 1331525;1580863;4145379;4145380;4145383;4145361;4142862;4145382;4145358;4145359;4145360;4145357;4145378;6480464 15118671;17961406;17339047;15298558;19284602;19258923;16893396;20156753;19940503;19635592;20003279;18778489 11814695;19326508;19317339;19267929;19265133;19264973;19247692;19237393;19236319;19146844;18923449;18752037;18560587;18425216;18423563;18410963;17878941;17703412;17702965;17640346;17545039;17081983;17061022;16839403;16799089;16784537;16773130;16713569;16650044;16519819;16387804;16024651;15986064;15879414;15805180;15790980;15766253;15709049;15387895;15347848;15196271;15144468;14742294;14720258;14702039;14676211;14659745;14564349;12975309;12768445;12535637;12477932;12110844;11780052;21781516;19665773;19951440;19996348;20227692;20237496;20395963;20491578;20503287;20524005;20701904;20716621;19913121;20628086;20537279;21179102;21078624;21869474;22035178;21930123;22349453;21161400;22888638;22269827;22227561;22851202;22989201;22583515;23612257;23331525;22871616 80332 A2A2L3;Q9BZ11 AB055891;ABBA01053826;AF466287;AF466288;AF466289;AK092627;AK094070;AK095953;AK123015;AK126487;AK126498;AK226148;AK300429;AK304037;AL109804;AL117415;AL356755;AMYH01011677;AY223850;AY223851;AY223852;AY223853;AY223854;AY223855;AY358314;BC062663;BC125112;BC125113;CH471133;DQ995342;NM_025220;NM_153202 AAH62663;AAI25113;AAI25114;AAM80482;AAM80483;AAM80484;AAP15439;AAP15440;AAP15441;AAP15442;AAP15443;AAP15444;AAQ88680;ABI97387;BAB83092;BAC04660;BAG62155;BAG64948;EAX10519;EAX10520;EAX10521;EAX10522;EAX10523;EAX10524;EAX10525;EAX10526;NP_079496;NP_694882;Q9BZ11 Hs.173716 1793112;1793114;1793116;1793118;2113516 ADAM33_V312;PMC196627P1;PMC196627P2;PMC196627P3;PMC196627P4 C20orf153;DJ964F7.1;DKFZp434K0521;FLJ35308;FLJ36751;MGC149823;MGC71889 ADAM 33;OTTHUMP00000030126;OTTHUMP00000161030;a disintegrin and metalloprotease 33;a disintegrin and metalloproteinase domain 33;disintegrin and metalloproteinase domain-containing protein 33;disintegrin and reprolysin metalloproteinase family protein APPROVED protein-coding ENSG00000149451 15478 06173 607114 REVIEWED 1345583 ADAM32 ADAM metallopeptidase domain 32 8 8 8 p11.22 37916690 38094247 + 39084207 39261593 + 38965050 39142436 + 1580863;6480464 12568724;12477932;17081983;15489334;15340161;12975309;20379614 203102 E3W988;E5RGK7;E5RJE6;E5RJY7;E7EPX8;E7ER82;Q8TC27 AB209690;ABBA01015931;AC105091;AC105185;AK122608;AK129810;AK131038;AK300148;AK313864;AMYH01018657;AY172952;AY358739;BC026085;BC026169;BC028702;BC030014;BC030698;BC034975;BI559590;CH471080;NM_145004 AAH26085;AAH26169;AAH28702;AAH30014;AAH30698;AAH34975;AAO45696;AAQ89099;ABM81836;ABM84987;BAC85238;BAC85489;BAD92927;BAG36592;BAG61934;EAW63282;NP_659441;Q8TC27 Hs.521545 1342131;1673158;1717567 D10S1761;G32133;RH122088 FLJ26299;FLJ29004 ADAM 32;OTTHUMP00000225774;OTTHUMP00000225834;OTTHUMP00000226015;a disintegrin and metalloprotease domain 32;a disintegrin and metalloproteinase domain 32;disintegrin and metalloproteinase domain-containing protein 32;metalloproteinase 12-like protein protein-coding ENSG00000197140 15479 16475 VALIDATED 1350597 ADAM3A ADAM metallopeptidase domain 3A (pseudogene) 8 8 p11.23 39427721 39499524 - 39308564 39380470 - 6480464 16344560;12477932;11439107;9693117;9502432;20210993;21138945 1587 ABBA01015913;ABBA01015914;ABBA01015915;ABBA01015916;ABBA01015917;ABBA01015918;AC106011;AC123767;AJ005372;AK302269;AK308250;BC025386;BC042979;BG717260;DB335796;DB447356;HY234081;NR_001569;NR_024106;NR_024107;NR_073423;X89654;X89655;X89656;X89657 BAG63615 Hs.98848 1732399 D8S563E ADAM3;CYRN1;tMDCI a disintegrin and metalloproteinase domain 3a (cyritestin 1) APPROVED pseudo ENSG00000197475 209 VALIDATED 1353792 ADAM5 ADAM metallopeptidase domain 5, pseudogene 8 8 8 p11.22 38123987 38226669 + 39291339 39393902 + 39172182 39274745 + 632496;6480464 8786143 12477932;10417343;20210993;22797925 255926 Q6NVV9 ABBA01015925;ABBA01015926;ABBA01015927;ABBA01015928;ABBA01015929;ABBA01015930;ABBA01015931;AC105185;AC106011;AJ132820;AJ132821;AJ132822;AJ132823;AJ132824;AJ132825;AJ132826;AJ132827;AMYH01018657;BC026083;BC047448;BC057230;BC067864;NR_001448 Q6NVV9 Hs.369765 1705110;1758149 SHGC-147525;SHGC-79975 ADAM5P;TMDCII tmdc ii APPROVED pseudo ENSG00000196115 212 PROVISIONAL 736113 ADAM7 ADAM metallopeptidase domain 7 This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011] 8 8 8 p21.2 23262089 23329678 + 24354454 24422171 + 24298509 24367078 + 1580863;6480464 16344560;12514095;12477932;11514362;12037602;21618342;23218918 8756 C9JK28;E5RK87;Q6PEJ6;Q9H2U9 ABBA01005549;AC024958;AC120193;AF090327;AF215824;AK292492;AMYH01018578;BC043207;BC058037;CH471080;DB077360;NM_003817 AAC36742;AAG43987;AAH43207;AAH58037;AAI41423;AAI48736;BAF85181;EAW63606;NP_003808;Q9H2U9 Hs.116147 1672379;5094817 D8S481;TTA024 ADAM 7;ADAM-7;EAPI;GP-83;GP83 ADAM 7;OTTHUMP00000123543;OTTHUMP00000123544;a disintegrin and metalloprotease domain 7;a disintegrin and metalloproteinase domain 7;disintegrin and metalloproteinase domain-containing protein 7;epididymal apical protein I;sperm maturation-related glycoprotein GP-83 APPROVED protein-coding ENSG00000069206 214 07391 607310 REVIEWED 1343050 ADAM8 ADAM metallopeptidase domain 8 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009] 10 10 q26.3 134925911 134940362 - 135075920 135090407 - 1298587;1580863;2325243;2325244;5128874;4145380;5128878;5128872;6480464 9126482;17979891;9670863;19625177;17339047;19373511;20194813 19601829;19469654;19397475;19284887;18691140;18682798;18566576;17548643;16344560;15623614;12477932;12135759;10354553;20453887;18710625;15574124;16385451;18811590;19714641;19766586;19575316;21077325;20628624;12777399;15220135;18397961;21679521;22941466;21728902;21640993;22229154;22215309;22959284;21983884 101 H0YKZ1;H0YMT6;P78325;Q14C66 ABBA01006208;ABBA01006209;AK301147;AK304324;AK310662;AK312834;AL592071;AMYH01003231;AMYH01003232;BC064500;BC115404;BI908229;BM144968;BM146234;BQ007791;CH471211;CR997306;CS174020;D26579;DA936506;DB142906;DC401057;DC408787;NM_001109;NM_001164489;NM_001164490 AAI15405;BAA05626;BAG35688;BAG62738;BAH14159;CAJ34536;EAW61325;EAW61326;NP_001100;NP_001157961;NP_001157962;P78325 Hs.501574 1675794;2216986 ADAM8_1412;RH80752 CD156;MGC134985;MS2 ADAM 8;a disintegrin and metalloproteinase domain 8;cell surface antigen MS2;disintegrin and metalloproteinase domain-containing protein 8;human leukocyte differentiation antigen APPROVED protein-coding ENSG00000151651 215 03777 602267 REVIEWED 1318933 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined. [provided by RefSeq, Jul 2008] 10 10 10 q21 65714785 65804152 + 72102565 72192203 + 72432559 72522197 + 1580863;6771189;6771190;6480464 18790654;15913795 11867212;11779638;11741898;16385451;19851299;20378664;20379614;21254220;22205175 140766 Q8WXS8 ABBA01019633;ABBA01019634;ABBA01019635;AF358666;AF366351;AJ345098;AK128469;AL355344;AL358817;AMYH01002814;AMYH01002815;CH471083;NM_080722;NM_139155 AAI40264;AAL40229;AAL79814;CAC87943;EAW54409;EAW54410;NP_542453;NP_631894;Q8WXS8 Hs.352156 1336739;1797264;2165447 ADAMTS14_2587;D10S1685;RH17783 FLJ32820 A disintegrin and metalloproteinase with thrombospondin motifs 14;ADAM-TS 14;ADAM-TS14;ADAMTS-14;OTTHUMP00000019762;OTTHUMP00000019763;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14;metalloprotease-disintegrin protease APPROVED protein-coding ENSG00000138316 14899 06329 607506 REVIEWED 1321127 ADAM9 ADAM metallopeptidase domain 9 This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010] 8 8 p11.22 38973662 39081937 + 38854505 38962780 + 1580863;2317976;2325246;2325247;2325249;1559151;6480464;7240710 15688065;19473694;17465204;14997207;15950787 10531379;8647900;15361064;11162558;17704059;9920899;11831872;17018608;19409519;19394555;19253070;19237226;18061337;17342749;17081983;16806063;16311053;15856464;15280379;15205330;12767059;12535668;12484779;12477932;12135759;12054541;11955914;11882657;10527948;9857183;9016778;8809033;7584028;7584026;16336960;19505527;19543729;19564338;20422344;11581183;20736367;20388695;20672324;21135106;19003995;21956108;21139048;21906983;21987572;22480688;22064652;23342005;21963094;23000965 8754 A0AVL1;C9J6H5;C9JPM3;F8WC54;Q13443 ABBA01015931;ABBA01015932;ABBA01015933;AC105091;AC108863;AF495383;AK293257;AMYH01018657;AV708278;BC027996;BC126406;BC143923;BC143924;CH471080;D14665;NG_016335;NM_003816;NR_027638;NR_027639;NR_027878;U41766 AAC50403;AAI26407;AAI43924;AAM49575;BAA03499;BAG56789;EAW63283;EAW63284;EAW63285;NP_003807;Q13443 Hs.591852 1678315;2149315 RH17377;RH25259 CORD9;KIAA0021;MCMP;MDC9;Mltng ADAM 9;ADAM metallopeptidase domain 9 (meltrin gamma);OTTHUMP00000216481;OTTHUMP00000216484;OTTHUMP00000216485;OTTHUMP00000216486;cellular disintegrin-related protein;cone rod dystrophy 9;disintegrin and metalloproteinase domain-containing protein 9;metalloprotease/disintegrin/cysteine-rich protein 9;myeloma cell metalloproteinase APPROVED protein-coding ENSG00000168615 216 04091 602713;612775 REVIEWED 1314467 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008] 19 19 p13.2 8551126 8581588 - 8645126 8675588 - 1580863;6480464;7240710 18567016;18391951;15368195;15358598;15355968;15203218;15146197;15094112;14598350;12477932;11941487;11167130;21402694;19696795;19836009;21900206;20301293;20881960;23422823 81794 M0QY12;M0QY36;M0QZE4;Q6ZN14;Q9H324 AB209515;ABBA01010833;ABBA01010834;ABBA01010835;AC092315;AC130469;AC243312;AF163762;AK131414;AMYH01009443;BC029308;BF588726;BI822988;BM928283;BX461830;CD632934;CD632956;CD632974;CH471139;CN431169;NG_011840;NM_030957 AAG35563;BAD18561;BAD92752;EAW68907;EAW68908;NP_112219;Q9H324 Hs.657508 1338823;1783824;2134345;2138135 D19S906;RH66060;SHGC-154249;STS-Z41090 ADAM-TS10;WMS;WMS1 A disintegrin and metalloproteinase with thrombospondin motifs 10;ADAM-TS 10;ADAMTS-10;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10;zinc metalloendopeptidase APPROVED protein-coding ENSG00000142303 13201 07470 277600;608990 REVIEWED 736845 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008] 21 21 q21.2 27130477 27139599 - 28208606 28217728 - 1580863;6480464 8995297;10438512;19608765;19404339;19349275;19027488;19023099;19010931;19007777;18192475;18174457;18076023;17975119;17897672;17560840;17167179;16675485;16641089;16495931;16328961;16314835;16061471;15967414;15878613;15661359;15599946;15184385;14996435;14760803;14702039;12907688;12716911;12477932;12054629;12054626;11831030;11278559;10930576;10830953;10811842;10785405;10718198;10373500;10094461;9593739;20546609;18775505;19615732;19915008;20103648;20484033;21037509;20840749;22735305;20655981;20795945;22776012;21345877;21937160;21890473;22383695;22562232;23001403;23289900 9510 E5RI60;E5RJR7;H7C206;Q8NE26;Q9UHI8 AB037767;ABBA01057223;AF060152;AF170084;AF207664;AK023795;AK129873;AK314475;AL162080;AMYH01012178;AP001598;AP001599;AP001697;AW163724;BC036515;BX647388;CH471079;DQ108407;NM_006988 AAD48080;AAF15317;AAF23772;AAH36515;AAZ73034;ABM87764;ABW03905;BAA92584;BAA95502;BAC85245;BAG37080;CAB82413;CAI46043;EAX09951;EAX09952;NP_008919;Q9UHI8 Hs.643357 1795306;2127761;2171743;2171745;2172923;2175271;2190907;5092708 A005R14;ADAMTS1_209;D21S1964;D21S2033;G32278;MARC_10651-10652:1000474642:1;SHGC-51859;STS-R76276 C3-C5;KIAA1346;METH1 A disintegrin and metalloproteinase with thrombospondin motifs 1;ADAM-TS 1;ADAM-TS1;ADAMTS-1;METH-1;OTTHUMP00000096354;a disintegrin and metalloproteinase with thrombospondin motifs 1 (adamts-1);a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1;human metalloproteinase with thrombospondin type 1 motifs APPROVED protein-coding ENSG00000154734 217 05530 605174 REVIEWED 1320430 ADAMDEC1 ADAM-like, decysin 1 This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 23205384 23227107 + 24297916 24319471 + 24241798 24263526 + 1580863;6480464 9271581;19218196;18449420;16335952;15489334;14632642;12477932;12037602;11673514 27299 B7Z6V5;E5RK05;O15204 ABBA01005549;AC120193;AK300959;AK301007;AK311528;AK316320;AK316322;AMYH01018578;BC069582;BC074877;BC074878;CH471080;DC387711;NM_001145271;NM_001145272;NM_014479;Y13323 AAH69582;AAH74877;AAH74878;BAH13381;BAH13391;BAH14691;BAH14693;CAA73764;EAW63607;NP_001138743;NP_001138744;NP_055294;O15204 Hs.521459 1795304;2112346 ADAMDEC1_1286;D8S2210 FLJ79219;M12.219 ADAM DEC1;ADAM-like protein decysin-1;OTTHUMP00000123542;OTTHUMP00000224959;a disintegrin and metalloproteinase domain-like protein decysin-1;decysin;disintegrin protease APPROVED protein-coding ENSG00000134028 16299 07070 606393 VALIDATED 1323132 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 q34 135276941 135314328 + 136279459 136324508 + 1598737;1580863;6480464;7240710 16689760 22324373;22431572;21238935;19644711;21385852;22298244;22529288;20390223;11557746;12775718;11535495;19506365;19427680;19422343;19389207;19270304;19260037;19253359;19234142;19190814;19190805;19190804;19116307;19069166;19054323;19047683;19041237;18988930;18983500;18981290;18940312;18835837;18833927;18801485;18756543;18725999;18665921;18609162;18581589;18521503;18502798;18492952;18492805;18449422;18433458;18332284;18327408;18263586;18240172;18223285;18194418;18175284;18166799;18031293;17988227;17928530;17922807;17901248;17849048;17768109;17764538;17725738;17395589;17296575;17294528;17229645;17121983;17087728;17053057;17030346;17003922;16990571;16953270;16899464;16894459;16807643;16794526;16755777;16634765;16597588;16468327;16453338;16449289;16391894;16344560;16335952;16322474;16286459;16221672;16203734;16189276;16160007;16141351;16113782;16102037;15975930;15890682;15886321;15865866;15855280;15842379;15824096;15809291;15774620;15774619;15711742;15710227;15692254;15583740;15388580;15327386;15249683;15182579;15175818;15164053;15126318;15009467;15009458;14976043;14962303;14727263;14727259;14727257;14727256;14727255;14727254;14644076;14563640;14525793;14512317;14512308;12975358;12975309;12923577;12871391;12871390;12869506;12855569;12791682;12753286;12615692;12614216;12477932;12395148;12393505;12393399;12393397;12223999;12195022;12181489;12172456;12130486;12091372;12091044;12084165;12038781;11920264;11867212;11843286;11586351;11586344;11574066;11535494;11230166;11167130;8639782;8639781;19492149;20664912;20682599;20647566;20734064;20141578;21196718;19422532;20605782;20307901;19809308;18996572;19027144;19162307;19439298;19541819;19574655;19584892;19587373;19654870;19682236;19718479;19729451;19765208;19765212;19812385;19822897;19847791;19880749;19897584;19944670;19996632;20032502;20054668;20058209;20062916;20075158;20201926;20705333;21077328;20553378;20624874;20958794;20695979;20704649;21103662;20946172;21350095;21136020;21799176;23233642;22783805;22915644;22627385;21512165;21779388;21573942;21479334;21488199;21705658;23020229;20923926;21720563;21712537;21843064;21781265;21715306;21896483;22703881;21275971;22289888;22289891;22370688;22685231;21901237;22075512;21732076;22205175;21535387;21605335;21606162;21676167;22398507;22466813;22529289;22314603;22110247;22168261;22192749;22922961;23144461;23225307;12576319;12640381;15521921;16796708;18443791;19055667;19109562;23141846;23267103;23524258;22672482;23346910;22768050;22854959;22070827;22163125;22627470;22707719 11093 B3KWF7;E7EV88;Q76LX8;Q9UGQ1 AB069698;ABBA01032457;ABBA01032458;AF414400;AF414401;AJ011374;AJ305314;AJ420810;AJ420811;AK124983;AK292439;AL136809;AL158826;AL593848;AMYH01021802;AMYH01021803;AMYH01021804;AV655072;AW197188;AY055376;AY358118;AY532929;AY532930;AY532931;AY532932;BC034404;BC039251;BC103828;BC103829;BC103830;CH471090;DB069518;DQ422807;NG_011934;NM_139025;NM_139026;NM_139027;NR_024514 AAI72369;AAL11094;AAL11095;AAL17652;AAQ88485;AAS54901;AAS54902;AAS54903;AAS54904;ABD72606;BAB69487;BAF85128;BAG54119;CAB66157;CAB66743;CAC83682;CAD12729;CAD12730;CAI12850;CAI12851;CAI12852;EAW88083;EAW88084;EAW88085;EAW88086;EAW88087;EAW88088;NP_620594;NP_620595;NP_620596;Q76LX8 Hs.131433 2216988 ADAMTS13_3006 13;ADAM-TS;ADAM-TS13;ADAMTS-13;C9orf8;DKFZp434C2322;FLJ42993;MGC118899;MGC118900;TTP;VWFCP;vWF-CP A disintegrin and metalloproteinase with thrombospondin motifs 13;ADAM-TS 13;ADAM-TS13;ADAMTS-13;OTTHUMP00000022496;OTTHUMP00000022497;OTTHUMP00000022498;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13;vWF-cleaving protease;von Willebrand factor-cleaving protease APPROVED protein-coding ENSG00000160323 1366 04994 274150;604134 REVIEWED 1316449 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] 5 5 q35 33563043 33927881 - 33527286 33892124 - 1580863;6480464 21494557;22322903;19098927;17895370;17081983;16611630;15489334;12975309;12477932;11279086;11167130;10737800;19151918;19638407;20379614;20400778;21559743;22247065;22505177;22990015;23019333 81792 D6REX0;P58397 ABBA01066753;ABBA01066754;ABBA01066755;ABBA01066756;ABBA01066757;ABBA01066758;ABBA01066759;ABBA01066760;AC008880;AC034232;AC109491;AC139777;AJ250725;AMYH01015007;AW938686;AY358745;BC058841;BC131733;BC139900;CH471118;NM_030955 AAH58841;AAI31734;AAI39901;AAQ89105;CAC20419;EAX10808;EAX10809;NP_112217;P58397 Hs.12680 1334885;1341667;1670902;1682479;1685694;1687514;1708310;1709088;1714121;1722723;1728033;1764717;1765159;1765529;1766601;7186228;7186236;7187544 D5S1506;D5S2062;D5S674;G60449;G63287;RH119668;RH41190;RH79828;RH94238;SHGC-148307;SHGC-148675;SHGC-149004;SHGC-149910;SHGC-79414;SHGC-85695 PRO4389 A disintegrin and metalloproteinase with thrombospondin motifs 12;ADAM-TS 12;ADAM-TS12;ADAMTS-12;OTTHUMP00000221211;OTTHUMP00000221212;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 APPROVED protein-coding ENSG00000151388 14605 05862 606184 REVIEWED 1318082 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008] 5 5 5 q23.3 124927090 125204740 + 128824002 129102275 + 128796103 129074376 + 1580863;6480464 11867212;19508998;22445761;23251661 171019 D6R9M2;H0Y8Y0;Q8TE59 ABBA01068850;ABBA01068851;ABBA01068852;ABBA01068853;AC008425;AC008528;AC008591;AC106781;AC129713;AI366752;AJ311904;AK122622;AK128729;AMYH01015605;AMYH01015606;AW473680;CH471062;NM_133638 AAI56493;BAG53626;CAC84565;EAW62381;EAW62382;EAW62383;EAW62384;EAW62385;NP_598377;Q8TE59 Hs.23751 1342032;1652236;1673641;1676472;1695188;1776661;1780482;1780626;1785722;2132610;2216990;5093654 A009U23;ADAMTS19_2956;D5S1614E;D5S1841;D5S809;G32845;G48235;RH91157;SHGC-80086;STS-R86261;bac5006S;bac51428S FLJ16042 A disintegrin and metalloproteinase with thrombospondin motifs 19;ADAM-TS 19;ADAM-TS19;ADAMTS-19;OTTHUMP00000159239;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 APPROVED protein-coding ENSG00000145808 17111 06334 607513 REVIEWED 1320722 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member. [provided by RefSeq, Jul 2008] 5 5 5 p15 5166758 5346634 + 5193443 5373412 + 5140443 5320412 + 1580863;6480464 17519324;16507336;14702039;11867212;22562232;19423552;19635554;20379614 170690 Q2XQZ0;Q8TE57 AB095949;ABBA01016132;ABBA01016133;ABBA01016134;ABBA01016135;AC010269;AC022424;AC091978;AJ315734;AK122980;AK127746;AM983533;AMYH01014877;CH471102;DQ266047;FJ515844;NM_139056 AAI40298;ABB70405;ACS13738;BAC23125;BAG53830;BAG54564;CAC86015;CAQ42983;EAX08117;EAX08118;EAX08119;EAX08120;NP_620687;Q8TE57 Hs.661915 1658742;1705394;1727817;1769011;1773590;2071048;2128485;2145140;2145142;2175582;2175584 A005Z07;A006A39;AFM198yb2;D5S1921;G20614;G20661;G63174;L28417;L31467;REN106716;SHGC-83559 ADAMTS16s;FLJ16731 A disintegrin and metalloproteinase with thrombospondin motifs 16;ADAM-TS 16;ADAM-TS16;ADAMTS-16;OTTHUMP00000220539;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 APPROVED protein-coding ENSG00000145536 17108 06331 607510 REVIEWED 1318756 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q24 76928247 77297865 - 98329166 98699706 - 100511643 100882183 - 1580863;6480464;7240710 18391951;16344560;14702039;11867212;20546612;19266077;19836009;20200978;21037509;21555518;20881960;21145461;22486325 170691 H0YMH1;H3BRA9;H3BV94;Q8TE56 AA884550;ABBA01020541;ABBA01020542;ABBA01020543;ABBA01020544;ABBA01020545;ABBA01020546;ABBA01020547;AC015723;AC022710;AC084855;AC113187;AJ315735;AK057331;AK057529;AK131344;AMYH01006969;AMYH01006970;AMYH01006971;CH471101;DB279404;DQ217943;NG_016287;NM_139057 AAI52746;ABB70740;BAD18500;CAC86016;EAX02261;EAX02262;EAX02263;EAX02264;NP_620688;Q8TE56 Hs.513200 1675169;1687249;1721793;1738959;1750001;1755309;1760831;1763385;1779560;2127050;2132341;2133126;2137988;5094274 D15S1294;D15S858;D15S929;D15S934;G09513;G09795;G54680;G59767;RH80915;SHGC-111703;SHGC-142197;SHGC-144491;SHGC-147106;SHGC-153531 FLJ16363;FLJ32769 A disintegrin and metalloproteinase with thrombospondin motifs 17;ADAM-TS 17;ADAM-TS17;ADAMTS-17;OTTHUMP00000194818;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 APPROVED protein-coding ENSG00000140470 17109 06332 607511;613195 REVIEWED 1320284 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8. [provided by RefSeq, Jul 2008] 11 11 11 q25 127487765 127515431 + 129824079 129848926 + 130318869 130346539 + 1580863;6480464 19458070;16152618;15599946;15489334;12477932;11867212;20590445;23233679 170689 Q8TE58 ABBA01023042;AJ315733;AK130067;AMYH01004129;AMYH01004130;AP002986;AP003459;BC109114;CH471065;NM_139055 AAI09115;CAC86014;EAW67786;EAW67787;NP_620686;Q8TE58 Hs.534221 1645567;1689548;1737027;1737843;1737853;1757641 D11S2776;D11S3451;D11S3457;RH47034;RH81015;SHGC-145973 MGC126403 A disintegrin and metalloproteinase with thrombospondin motifs 15;ADAM-TS 15;ADAM-TS15;ADAMTS-15;OTTHUMP00000230651;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein;metalloprotease disintegrin 15 with thrombospondin domains APPROVED protein-coding ENSG00000166106 16305 06330 607509 REVIEWED 1321433 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 5 5 qter 178473456 178704935 - 178537852 178772431 - 1598739;1580863;6480464;7240710 10417273 15373769;14730609;12477932;11788898;11741898;11167130;11076863;10464288;10094461;7735500;15146197;18937294;16046392;16344560;20574651;22589738;18624398;22205175;22990015 9509 O95450 ABBA01010012;ABBA01010013;ABBA01010014;ABBA01010015;ABBA01010016;ABBA01010017;AC008470;AC008544;AC010216;AC016557;AC034202;AC109479;AI417257;AJ003125;AK308213;AMYH01015950;BC098581;BU629258;BX479109;BX537606;CA445758;CH471165;CN305044;CO247372;DA928965;NG_023212;NM_014244;NM_021599 AAI11460;CAA05880;EAW53815;EAW53816;NP_055059;NP_067610;O95450 Hs.23871 1659727;1686152;1732629;1756301;1780756;1780814;1787934;2141587;2147657;2164738;2186665 D5S1382;G09291;RH12250;RH44368;RH44727;SGC33801;SHGC-143243;SHGC-155422;WI-10789;bac51964S;bac52194T ADAM-TS 2;ADAM-TS2;ADAMTS-2;ADAMTS-3;DKFZp686F12218;NPI;PC I-NP;PCI-NP;PCINP;PCPNI;hPCPNI;pNPI A disintegrin and metalloproteinase with thrombospondin motifs 2;OTTHUMP00000161523;OTTHUMP00000224422;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2;procollagen I N-proteinase;procollagen I/II amino propeptide-processing enzyme;procollagen N-endopeptidase APPROVED protein-coding ENSG00000087116 218 05173 225410;604539 REVIEWED 1317084 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] 12 12 12 q12 42551068 42749852 - 42034279 42231991 - 43748012 43945724 - 6480464 12514189;14702039;12562771;20221248;22379998;23251661 80070 E9PBD5;G3V1X8;H0YHN3;P59510 ABBA01031413;ABBA01031414;ABBA01031415;ABBA01031416;AC090525;AC107018;AC120104;AF488804;AJ515153;AJ515154;AK023228;AMYH01004410;AMYH01004411;AMYH01004412;CH471111;NG_028228;NM_025003 AAO15766;BAB14479;CAD56159;CAD56160;EAW57861;EAW57862;EAW57863;EAW57864;NP_079279;P59510 Hs.287554 1696092;2218978 ADAMTS20__4252;SHGC-79122 ADAM-TS20;ADAMTS-20;GON-1 A disintegrin and metalloproteinase with thrombospondin motifs 20;ADAM-TS 20;OTTHUMP00000240868;OTTHUMP00000240870;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20;a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20 APPROVED protein-coding ENSG00000173157 17178 611681 REVIEWED 1321838 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 70502659 70790668 - 73365551 73653380 - 73146686 73434516 - 1580863;6480464 10094461;11812023;11408482;15708897;12477932;11831030;11741898;11167130;10464288;9205841;21546767;20881960;21822266;22205175;22286219;23259602;22916037 9508 B7Z2U9;O15072;Q96AY5 AB002364;ABBA01022980;ABBA01022981;ABBA01022982;ABBA01022983;AC093790;AC095056;AC104814;AF247668;AK295131;AMYH01014293;AMYH01014294;AMYH01014295;BC016451;BC019707;BC130287;BC132735;CH471057;NM_014243 AAH16451;AAI30288;AAI32736;AAK28400;BAA20821;BAH11985;EAX05651;EAX05652;NP_055058;O15072 Hs.590919 1650048;1658362;1662799;1713803;1715015;1776763;1795308;2137498 ADAMTS3_678;D4S1389;G33602;HSC2JD032;RH120789;RH120844;SHGC-59735;SHGC-67364 ADAMTS-4;KIAA0366 A disintegrin and metalloproteinase with thrombospondin motifs 3;ADAM-TS 3;ADAM-TS3;ADAMTS-3;OTTHUMP00000160361;PC II-NP;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3;procollagen II N-proteinase;procollagen II amino propeptide-processing enzyme;zinc metalloendopeptidase APPROVED protein-coding ENSG00000156140 219 06893 605011 REVIEWED 1353739 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. It is thought to function as a tumor suppressor. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 q23 61613574 61766657 - 75873526 76026512 - 77316025 77469011 - 1580863;6480464 19249006;18398821;16507336;15489334;14702039;12477932;11867212;8889548;17546048;19844255;20164292;20379614;19806480;21047771;21862674;22425255;23356391 170692 B4DEX3;H3BMG1;H3BTZ3;Q2VYF7;Q6ZN25;Q8TE60 ABBA01017034;ABBA01017035;ABBA01017036;AC009139;AC010548;AC025284;AF086229;AI792764;AJ311903;AK122677;AK131403;AK293831;AMYH01007824;AMYH01007825;AY172951;BC063283;BM684970;CH471114;NG_031879;NM_199355 AAH63283;AAO45695;BAC85503;BAD18550;BAG57234;CAC83612;EAW95598;EAW95599;EAW95600;EAW95601;EAW95602;NP_955387;Q8TE60 Hs.188746 1339054;1700678;1709484;1728075;1789184;2149700 D16S3097;D16S782;G63308;G65591;RH103962;SHGC-81796 ADAMTS21;KNO2 A disintegrin and metalloproteinase with thrombospondin motifs 18;ADAM-TS 18;ADAM-TS18;ADAMTS-18;OTTHUMP00000174960;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21;disintegrin and metalloprotease-like protein APPROVED protein-coding ENSG00000140873 17110 06333 607512;608454 REVIEWED 1317007 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. [provided by RefSeq, Jul 2008] 5 5 5 q12 61441460 61776222 - 64480319 64813460 - 64444563 64777704 - 1580863;6480464 18579725;16129570;12477932;11167130;10464288;8401585;7566098;20889312;20379614;15123239;23212062;23291589 11174 D6R9L6;Q5IR90;Q9UKP5 AA318687;AA333577;AA907572;AB209685;ABBA01048331;ABBA01048332;ABBA01048333;AC008847;AC008868;AC025176;AC025186;AC099505;AF140674;AK131039;AMYH01015132;AY692422;AY692423;AY692424;AY692425;AY692426;BC010563;BC020916;BC071654;BG117513;CR749356;NM_197941;W05436 AAD56357;AAI56432;AAW47395;AAW47396;AAW47397;AAW47398;AAW47399;BAC85480;BAD92922;CAH18209;NP_922932;Q9UKP5 Hs.482291 1335310;1652232;1667904;1697052;1725125;1755313;1771220;1781198;1856258;2142342;2145627;2216992;5491850 ADAMTS6;ADAMTS6_3045;D5S1345;D5S1877;D7S1840;L28197;L28224;L31482;RH102005;RH118864;RH65423;SHGC-142204;STS-H02820 ADAM-TS 6;ADAM-TS6;ADAMTS-6 A disintegrin and metalloproteinase with thrombospondin motifs 6;OTTHUMP00000083269;OTTHUMP00000221883;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 APPROVED protein-coding ENSG00000049192 222 05421 605008 REVIEWED 5144623 ADAMTS9-AS1 ADAMTS9 antisense RNA 1 3 64547343 64575765 + 100507082 XR_110020;XR_132711;XR_133345;XR_133346 APPROVED miscrna 40625 5144444 ADAMTS9-AS2 ADAMTS9 antisense RNA 2 3 3 64687277 64977811 + 64670546 64997143 + 16344560;23218918;23455636;18372903;20935629;22005931;22589738 100507098 ABBA01024306;ABBA01024307;ABBA01024308;AC008583;AC121766;AC122178;AC132007;AC137671;AK057923;AL832788;AMYH01013248;AMYH01013249;BC040632;DA927615;NR_038264 Hs.660881 1335736;1342413;1727843;1735106;1783062;1784384;2121012;2122920;7186570 D3S1285;D3S2784E;D3S3446;D3S3644;D3S4057;G63187;SHGC-150996;SHGC-152672 DKFZp667E0523 APPROVED miscrna ENSG00000241684 42435 VALIDATED 1315487 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 55988022 56040507 - 76838600 76890828 - 79051545 79103773 - 1580863;6480464 19098927;16585064;12477932;11167130;10464288;19487464;20718794;21239051;21378988;21378990;23415669;23561647;22247065 11173 Q9UFZ4;Q9UKP4 AB209497;ABBA01060594;ABBA01060595;AC022748;AF140675;AK299844;AL110226;AL359934;AMYH01006840;AY327122;BC061631;CB991707;CH471136;NG_011492;NM_014272 AAD56358;AAH61631;AAQ94616;BAD92734;BAG61706;CAB53684;CAB95770;EAW99148;EAW99149;EAW99150;EAW99151;NP_055087;Q9UKP4 Hs.16441 1757665;1783198;2137316;5095096;5095098;5095102 ADAMTS7,_C.1468-4G>A;ADAMTS7,_C.2223T>C;ADAMTS7,_C.5061+42_C>T;RH46878;SHGC-146180;SHGC-146595 ADAM-TS 7;ADAM-TS7;ADAMTS-7;DKFZp434H204 A disintegrin and metalloproteinase with thrombospondin motifs 7;COMPase;a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 APPROVED protein-coding ENSG00000136378 223 05422 605009 REVIEWED 1346398 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma. [provided by RefSeq, Jul 2008] 1 1 q21-q23 159426162 159435469 - 161159538 161168845 - 1580863;6480464 22670872;10751421;14744861;10356395;19342688;19054571;18671934;18660489;18387286;18221525;18156631;18050214;18042673;18039650;17978660;17606262;17470431;17430884;17311924;17295438;17265492;17208315;17095512;17009305;16771712;16741450;16723216;16710414;16677612;16344560;16099106;16003758;15489334;15161923;14715656;14701864;14662755;14561220;12975309;12646579;12477932;12202483;11956193;11854269;11831030;11801682;11796708;11278559;11254106;11167130;10986281;10827174;10801887;10464288;10438522;10094461;9734811;16188468;18718938;18941754;19643179;19944557;20664926;21334453;20625753;22735305;22065068;21345877;21139048;21946608;19322201;21664283;20857147;22324945;22562232;21988832;23082219;23137648;23319426 9507 O75173;Q5VTW1 AB014588;ABBA01016596;AF148213;AK291573;AL590714;AL603427;AMYH01001457;AY044847;AY358886;BC030812;BC063293;CH471121;DA098917;DQ364570;NM_005099 AAD41494;AAH63293;AAL02262;AAQ89245;ABC88384;BAA31663;BAF84262;EAW52627;NP_005090;O75173 Hs.211604 1848540;5015619;5015861;5037552;7185938 96;D10S16;D11S3114;D8S2279 ADAMTS-2;ADAMTS-4;ADMP-1;KIAA0688 A disintegrin and metalloproteinase with thrombospondin motifs 4;ADAM-TS 4;ADAM-TS4;OTTHUMP00000032249;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4;aggrecanase-1 APPROVED protein-coding ENSG00000158859 220 04853 603876 REVIEWED 1343923 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. [provided by RefSeq, Jul 2008] 21 21 q21.3 27212112 27260703 - 28290231 28339439 - 1580863;6480464 10438522;18029348;18830934;18671934;18478108;18240210;18156631;18042673;17991750;17978660;17430884;17265493;17265492;17211519;17067994;16507336;16133547;16003758;15489334;14715656;14702039;12477932;12392761;11956193;11854269;11831030;11801682;11231277;11167130;11032846;10830953;10464288;9688535;15599946;21437951;21546767;21370305;19643179;19684582;19834535;20237151;22562232;20568084;22735305;20494980;21828051;21345877;21906983;22493487;23064555;23082219;22707719;22796434 11096 Q9UNA0 ABBA01057223;ABBA01057224;AF086299;AF086358;AF141293;AF142099;AK094057;AK095905;AMYH01012178;AMYH01012179;AP001600;AP001601;AP001697;AP001698;BC093775;BC093777;CH471079;NM_007038 AAD49577;AAF02493;AAH93775;AAH93777;BAA95503;BAA95504;EAX09948;EAX09949;NP_008969;Q9UNA0 Hs.58324 1678859;1688674;1858068;2165187;2185105 RH92546;RH92793;SHGC-87515;SHGC-87525;STS-H13278 ADAM-TS 11;ADAM-TS 5;ADAM-TS5;ADAMTS-11;ADAMTS-5;ADAMTS11;ADMP-2;FLJ36738 A disintegrin and metalloproteinase with thrombospondin motifs 5;ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-2);ADAM-TS 11;ADAM-TS 5;ADAM-TS5;ADAMTS-11;ADAMTS-5;OTTHUMP00000096353;a disintegrin and metalloproteinase with thrombospondin motifs 11;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2);aggrecanase-2 APPROVED protein-coding ENSG00000154736 221 05420 605007 REVIEWED 1318322 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. [provided by RefSeq, Jul 2008] 11 11 11 q25 127443759 127467479 - 129780028 129803749 - 130274818 130298539 - 1580863;6480464 10438512;10610729;17606262;16570050;16152618;15328519;15296936;14702039;12477932;20201926 11095 Q5FWF1;Q9UP79 AB209717;ABBA01023041;AF060153;AF175283;AK123706;AMYH01004128;AMYH01004129;AP002986;BC089435;BC113874;BC114624;BM988619;CH471065;NM_007037 AAD48081;AAF25806;AAH89435;AAI13875;AAI14625;BAD92954;BAG53941;EAW67783;EAW67784;EAW67785;NP_008968;Q9UP79 Hs.271605 1771492;1797266 ADAMTS8_2450;D11S1009 ADAM-TS8;FLJ41712;METH2 A disintegrin and metalloproteinase with thrombospondin motifs 8;ADAM-TS 8;ADAMTS-8;METH-2;METH-8;OTTHUMP00000230650;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 APPROVED protein-coding ENSG00000134917 224 05531 605175 REVIEWED 1315761 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. [provided by RefSeq, Jul 2008] 3 3 p14.1 64476370 64648405 - 64501330 64673365 - 1580863;6480464 19324937;10936055;12514189;19502414;19020324;19020323;18714373;18694974;18591388;18567820;18449890;18372903;19247373;19139842;16799631;16537537;16507336;15599946;14702039;12477932;11167130;10718198;20551050;20712903;20734064;20816152;20879858;20889853;20927120;20935629;19052845;19602701;19670153;19720844;19741467;19794065;19833888;19862325;19875450;19933996;19963134;20075150;20093484;20161779;20203524;20379614;20490451;20568084;22562232;23455636;22005931;22589738;23218918;22419820 56999 B7ZVX9;C9JWI2;H0Y859;Q9P2N4 AB037733;ABBA01024308;ABBA01024309;AC096888;AC122178;AF261918;AF488803;AK124945;AK300357;AK303343;AK310571;AMYH01013248;BC026271;BC036770;BC130578;BC171764;BX482310;CD103111;CH471055;NM_182920 AAF89106;AAI30579;AAI71764;AAO15765;BAA92550;BAG62098;BAG64406;EAW65434;EAW65435;NP_891550;Q9P2N4 Hs.656071 1670321;1674480;1687275;1795310;1847418;1850696;5019122 ADAMTS9_1430;RH102082;RH80461;SHGC-33668;SHGC-77053;STS-T87804;WI-17091 FLJ42955;KIAA1312 A disintegrin and metalloproteinase with thrombospondin motifs 9;ADAM-TS 9;ADAM-TS9;ADAMTS-9;OTTHUMP00000213329;OTTHUMP00000213331;a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 APPROVED protein-coding ENSG00000163638 13202 05662 605421 REVIEWED 1313018 ADAMTSL3 ADAMTS-like 3 15 15 15 q25.2 59876379 60263640 - 82113842 82499598 + 84322838 84708594 + 6480464 19266077;18391952;18391951;18391950;17597111;14702039;14667842;12508121;12477932;10574462;9628581;21239144;20546612;19343178;20189936;20397748;21998595;20881960 57188 P82987 AB033059;ABBA01029443;ABBA01029444;ABBA01029445;ABBA01029446;ABBA01029447;ABBA01029448;ABBA01029449;ABBA01029450;ABBA01029451;ABBA01029452;ABBA01029453;ABBA01029454;AC027807;AC087738;AC116157;AF237652;AK092324;AK308845;AL109723;AL109724;AMYH01006865;AMYH01006866;BC128389;BC128390;BE646238;CH471188;NM_207517 AAI28390;AAI28391;AAK15041;BAA86547;EAW62418;NP_997400;P82987 Hs.459162 1338049;1719647;1721745;1724353;1727225;1753813;1761081;1787740;1851318;2115367;2124741;2157725;2218182 ADAMTSL3__4253;D15S154;D15S821;D15S826;G59740;G62867;RH119099;RH123728;RH66242;SGC33139;SHGC-145062;SHGC-173332;SHGC-89205 KIAA1233;MGC150716;MGC150717 ADAMTS-like protein 3;ADAMTSL-3;OTTHUMP00000190871;a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3;punctin-2 protein-coding ENSG00000156218 14633 12426 609199 VALIDATED 1343515 ADAMTSL2 ADAMTS-like 2 This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] 9 9 9 q34.2 106945251 106987558 + 135389796 135430462 + 136397286 136440641 + 1580863;6480464;7240710 18677313;17509843;15489334;14667842;12477932;9628581;20301776;21415077;21988832 9719 B1B0D4;Q86TH1 AB011177;ABBA01032454;ABBA01032455;AI571260;AK127107;AK293498;AMYH01021806;AMYH01021807;AMYH01021808;BC050544;BX324209;BX629352;BX649571;CH471090;NG_009931;NM_001145320;NM_014694 AAH50544;BAA25531;BAG54437;BAG56984;EAW88095;EAW88096;EAW88097;NP_001138792;NP_055509;Q86TH1 Hs.522543 1337168;5037552 D8S2279;D9S1793 FLJ45164;GPHYSD1;KIAA0605 ADAMTS-like protein 2;ADAMTSL-2;OTTHUMP00000162492;OTTHUMP00000162493 APPROVED protein-coding ENSG00000197859 14631 11096 231050;612277 REVIEWED 1315056 ADAMTSL1 ADAMTS-like 1 This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] 9 9 9 p21.3 18399808 18837144 + 18464104 18900948 + 18474079 18910948 + 6480464 17395588;12477932;15203218;16344560;15489334;15164053;14702039;14667842;12975309;11805097;9628581;19671700;19824886;20379614;19913121;20628086;23251661;23459443 92949 A2A343;A6NIB9;F8WEP3;H7BYE3;Q6MZQ3;Q96RW4 ABBA01065223;AF176313;AF251058;AI750970;AK092602;AK123028;AK128724;AK290667;AK291956;AL158150;AL353895;AL442638;AL449963;AL591423;AMYH01019265;AMYH01019266;AMYH01019267;AMYH01019268;AY358327;BC030262;BC100788;BC100789;BC100790;BU626040;BX640951;CD636819;CH471071;CR740880;CX758410;DA549329;DA598045;NM_001040272;NM_052866 AAH30262;AAI00789;AAI00791;AAK34948;AAK84170;AAQ88693;ADZ15395;BAC03925;BAF83356;BAF84645;CAE45975;EAW58656;NP_001035362;NP_443098;Q8N6G6 Hs.741483 1704812;1760619;1761055;1786912;2154304;2162739;2184359;2189355;5016464 154YD2;D9S1163;D9S1993;GDB:384854;MARC_2660-2661:991933047:1;SHGC-112031;SHGC-144166;SHGC-145006;SHGC-79875 ADAMTSL-1;ADAMTSR1;C9orf94;DKFZp686L03130;FLJ35283;FLJ41032;FLJ46891;MGC118803;MGC118805;MGC40193;PUNCTIN ADAM-TS related protein 1;ADAMTS-like 1;ADAMTS-like protein 1;OTTHUMP00000021085;OTTHUMP00000021086;OTTHUMP00000021088;OTTHUMP00000239538;punctin-1 APPROVED protein-coding ENSG00000178031 14632 16462 609198 VALIDATED 1351069 ADAMTSL4 ADAMTS-like 4 This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 q21.3 148788522 148800037 + 150521898 150533413 + 1580863;6480464;7240710 16364318;18029348;19200529;16710414;16335952;16189514;15498874;15489334;14702039;12975309;12706885;12477932;10842357;10737800;8889548;20702823;20564469;19060904;20141359;21051722;23088713;22338190;21989719;22736615;23426735;21988832 54507 F8WAD0;Q6UY14;Q9UFG7 ABBA01049348;AF217974;AF289612;AF370411;AI637480;AK023606;AK092509;AK293037;AL122085;AL356356;AL513944;AMYH01001379;AY358122;BC027478;BC071852;BC094811;BC140800;BC144581;BG005397;BM148104;BM721520;BX282114;BX370116;BX647294;CB960863;CB988088;CH471121;NG_012172;NM_019032;NM_025008 AAG17217;AAH27478;AAH71852;AAH94811;AAI40801;AAI44582;AAI67841;AAL55796;AAQ15247;AAQ88489;BAB14619;BAF85726;CAB59258;EAW53542;EAW53543;NP_061905;NP_079284;Q6UY14 Hs.516243 5015881;5493267 GDB:335751;UniSTS:485529 ECTOL2;TSRC1 ADAMTS-like protein 4;ADAMTSL-4;OTTHUMP00000032789;OTTHUMP00000032790;thrombospondin repeat containing 1;thrombospondin repeat-containing protein 1 APPROVED protein-coding ENSG00000143382 19706 08583;18237 225100;610113 REVIEWED 1313735 ADAMTSL5 ADAMTS-like 5 19 19 19 p13.3 1439031 1447215 - 1456023 1464019 - 1505017 1513188 - 6480464 17113583;15489334;14702039;12477932;19851296;20198315;19322201 339366 B4DXK7;K7EJ85;K7ELN4;K7ELV0;Q0VD77;Q6ZMM2 ABBA01002650;AC027307;AK131571;AK302020;AMYH01009252;BC040620;BC119796;BC139833;CH471139;DR979736;NM_213604 AAH40620;AAI19797;AAI39834;BAD18703;BAG63419;EAW69486;EAW69487;EAW69488;EAW69489;EAW69490;NP_998769;Q6ZMM2 Hs.371674 2124815 RH66645 THSD6 ADAMTS-like protein 5;ADAMTSL-5;thrombospondin type-1 domain-containing protein 6 protein-coding ENSG00000185761 27912 15504 VALIDATED 733651 ADAP1 ArfGAP with dual PH domains 1 7 7 p22.3 904066 960811 - 937537 994289 - 1580863;6480464;6484113 10333475;10448098;12018390;12893243;16805830;16341594;16287813;15778454;15679100;15489334;15106847;14702039;14690521;14625293;12761501;12565890;12499840;12477932;11869802;11278595;12062430;16169070;21057110;18298663;16176273;18029348;19423540;20406964;20438785;15003508;21801775;21906983;21900206;21972134 11033 C9JN36;F6XZ68;H0Y7Q1;H7BZT6;H7C264;H7C2Q4;H7C324;H7C4B3;O75689 AACC02000129;AB097049;ABBA01039307;ABBA01039308;ABBA01039309;ABBA01039310;ABBA01039311;AC073957;AF082324;AI910700;AJ006422;AK092471;AK124979;AK290517;AK300644;AK300859;AK300999;AMYH01016942;AMYH01016943;AMYH01016944;AMYH01016945;BC033747;CH236965;CH471144;CR975507;NM_006869 AAD11414;AAH33747;BAC77402;BAF83206;BAG52556;BAG54118;BAG62332;BAG62509;BAG62618;CAA07024;EAL23709;EAW87182;EAW87183;EAW87184;NP_006860;O75689 Hs.602573 1342067;1759585;1762945;1790725;1851203;2152496;2181759;7184427 D7S2474;GDB:1318184;GDB:3778207;HSC231_(nt989926);SHGC-146699;SHGC-151230;STS-R20738 CENTA1;GCS1L;p42IP4 OTTHUMP00000024998;OTTHUMP00000200049;arf-GAP with dual PH domain-containing protein 1;centaurin, alpha 1;centaurin-alpha;centaurin-alpha-1;cnt-a1;putative MAPK-activating protein PM25 protein-coding ENSG00000105963 16486 09733 608114 VALIDATED 1347708 ADARB2-AS1 ADARB2 antisense RNA 1 10 10 10 p15.3 1515577 1545999 + 1558825 1589184 + 1568825 1599179 + 16344560;11181995 642394 A8MUL3 ABBA01035246;AF086274;AL450386;AMYH01001976;CH471072;DA335457;NR_033387 A8MUL3;EAW86509;EAW86510;EAW86511 Hs.568831 C10orf109;NCRNA00168;bA466B20.1 APPROVED miscrna ENSG00000205696 23299 PREDICTED 734306 ADAP2 ArfGAP with dual PH domains 2 17 17 17 q11.2 26169680 26207134 + 26272880 26310337 + 29248754 29286211 + 1580863;6480464 14690521;12018390;16138909;19291764;19266077;18391951;17632510;15489334;12477932;10843809;8125298;16169070;20546612;18482256;20379614;18541383;20098747;17207965;21832049;23285209;19953087 55803 J3KST1;J3KT70;J3QLP8;J3QRA6;J3QRD3;K7ENT1;Q2V6Q1;Q9NPF8 ABBA01014977;AC138207;AJ238994;AJ242782;AJ272195;AK074196;AK074204;AK222526;AMYH01008318;BC033758;CH471147;DQ288859;NM_018404 AAH33758;ABB90599;ADQ32352;BAD96246;CAB77266;CAB88383;CAC40651;EAW80287;EAW80288;EAW80289;NP_060874;Q9NPF8 Hs.514063 1655147;1674966;1852359 RH35914;SHGC-34232;SHGC-35088 CENTA2;HSA272195;cent-b OTTHUMP00000163768;arf-GAP with dual PH domain-containing protein 2;centaurin beta;centaurin, alpha 2;centaurin-alpha 2 protein;centaurin-alpha-2;cnt-a2 protein-coding ENSG00000184060 16487 16357 608635 VALIDATED 732582 ADARB1 adenosine deaminase, RNA-specific, B1 This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008] 21 21 q22.3 45318943 45470902 + 46494493 46646478 + 1300255;1580863;6480464 10894545 9113993;9111310;8995285;8889548;8559253;11278278;10899322;9330696;9103436;19156214;18178553;17903307;17728516;17525170;17071493;16961545;16733555;16297572;16141067;15383678;15302935;14759258;14759252;14612560;12859334;12477932;12459255;12414985;12163487;11907222;11717408;10830953;9330641;9149227;9143496;21289159;20372915;19642681;19713932;20011587;20215858;20379614;21832049;22366356;19156129;21847096;21622951;21139048;22226999;22525274;22414730 104 C9JUP4;G5E9B4;P78555;Q4AE77;Q4AE81 AB194369;AB194370;AB194371;AB194372;AB194373;ABBA01074185;ABBA01074186;ABBA01074187;AF001042;AF525422;AF533142;AL133499;AL163301;AMYH01012305;AMYH01012306;AP001579;AY082339;AY135659;BC030663;BC046198;BC065545;BU726292;BX322560;CH471079;FJ169506;NM_001112;NM_001160230;NM_015833;NM_015834;NR_027672;NR_027673;NR_027674;NR_073200;U73197;U76420;U76421;U76422;U82120;U82121;X99227;X99383;Z95973;Z95974;Z95975;Z95976 AAB18134;AAB58300;AAB61686;AAB61687;AAC51240;AAC51241;AAC51242;AAH65545;AAL99252;AAM83100;AAM97654;AAN10291;ACN49027;BAE16325;BAE16326;BAE16327;BAE16328;BAE16329;CAA67611;CAA67762;CAB09392;CAB90493;EAX09357;EAX09358;EAX09359;EAX09360;EAX09361;EAX09362;NP_001103;NP_001153702;NP_056648;NP_056649;P78563 Hs.474018 1661486;1674950;1683451;1724749;1735022;1776088;1795312 ADARB1_1459;Cda0pa11;D21S1720E;G23228;RH122581;RH80251;SHGC-87694 ADAR2;DRABA2;DRADA2;RED1 OTTHUMP00000115339;OTTHUMP00000115340;OTTHUMP00000115341;OTTHUMP00000115342;OTTHUMP00000174981;OTTHUMP00000214128;RED1 homolog;RNA editase;RNA editing deaminase 1;RNA-editing deaminase 1;RNA-editing enzyme 1;adenosine deaminase, RNA-specific, B1 (RED1 homolog rat);adenosine deaminase, RNA-specific, B1 (homolog of rat RED1);adenosine deaminase, rna-specific, b1;double-stranded RNA-specific editase 1;dsRNA adenosine deaminase;dsRNA adenosine deaminase DRADA2;human dsRNA adenosine deaminase DRADA2 APPROVED protein-coding ENSG00000197381 226 06777 601218 VALIDATED 736199 ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1177236 1724446 - 1218073 1769670 - 1223253 1779670 - 1580863;6480464 20709820;10836796;16344560;15635413;15164054;14702039;12477932;9272162;8889549;11278278;10899322;9330696;9103436;16385451;19197348;20011587;20379614;18029348;20923822;23400010;17000644;22210125 105 Q5VW42;Q5VW43;Q9NS39 ABBA01035244;ABBA01035245;ABBA01035246;ABBA01035247;ABBA01035248;ABBA01035249;ABBA01035250;ABBA01035251;ABBA01035252;ABBA01035253;ABBA01035254;ABBA01035255;ABBA01035256;ABBA01035257;ABBA01035258;AC026224;AF034837;AI695657;AK055107;AK057763;AK094294;AK123334;AK289895;AK307451;AK308579;AL392083;AL442069;AL450386;AL513304;AMYH01001976;BC047443;BC137477;BC139725;BC140852;CH471072;DA533361;NM_018702 AAF78094;AAH47443;AAI37478;AAI39726;AAI40853;BAF82584;BAG51468;EAW86508;NP_061172;Q9NS39 Hs.586663 1335346;1338445;1338918;1339005;1680821;1725159;1731030;1759039;1762147;1762273;1763071;1764815;1765637;1766189;1766409;1853461;2152937;2167253;2177490;2183076;7185318;7185548;7187595 D10S1474;D10S2479;D10S262;D10S526;D10S559;D10S594;RH124062;RH66275;RH98543;SGC36944;SHGC-146044;SHGC-146129;SHGC-146806;SHGC-148380;SHGC-149080;SHGC-149557;SHGC-149750;SHGC-150618;SHGC-58206;WI-21857 ADAR3;FLJ25034;FLJ36975;FLJ41340;RED2;hRED2 OTTHUMP00000018961;RED2 homolog;RNA-dependent adenosine deaminase 3;RNA-editing deaminase 2;RNA-editing enzyme 2;adenosine deaminase, RNA-specific, B2 (RED1 homolog rat);adenosine deaminase, RNA-specific, B2 (RED2 homolog rat);adenosine deaminase, rna-specific, b2;double-stranded RNA-specific editase B2;dsRNA adenosine deaminase B2;homolog of rat BLUE APPROVED protein-coding 227 09070 602065 REVIEWED 1603369 ADAT3 adenosine deaminase, tRNA-specific 3 19 19 19 p13.3 1839500 1847520 + 1856417 1864446 + 1905371 1913446 + 6480464 12477932;12457566;20946988;21988832 113179 C9JFC1;D6W601;Q96EY9 ABBA01002692;AC012615;AMYH01009269;BC011824;CH471139;HY030731;NM_138422 AAH11824;EAW69434;EAW69436;EAW69438;NP_612431;Q96EY9 Hs.144980 FWP005;MRT36;MST121;MSTP121;S863-5;TAD3 OTTHUMP00000206203;OTTHUMP00000206204;adenosine deaminase, tRNA-specific 3, TAD3 homolog;probable inactive tRNA-specific adenosine deaminase-like protein 3;tRNA-specific adenosine deaminase 3 homolog;tRNA-specific adenosine deaminase-like protein 3;tRNA-specific adenosine-34 deaminase subunit ADAT3 APPROVED protein-coding ENSG00000213638 25151 14000 615286;615302 VALIDATED 736989 ADAR adenosine deaminase, RNA-specific This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 1 1 q21.3 152821157 152867061 - 154554533 154600456 - 1559268;1300254;6480464;6907045;7240710 12916015;11099415 22885375;22993189;7565688;9020165;18029348;19434718;19124606;18835380;18799292;18753201;18705826;18627385;18362360;18243666;18178553;17698644;17680540;17569068;17478391;17225010;17081983;17079286;17033168;17021765;17020943;16964243;16917490;16886895;16475990;16133458;16120648;16055709;15955093;15724015;15723802;15659327;15635413;15556947;15489334;15342791;15146470;15102079;14711814;14702039;12954622;12702817;12665561;12618436;12477932;12453429;12447867;12429827;12414985;12396729;12243919;11907222;11752786;11604520;11593027;11451992;11421361;10535945;10364558;10200312;9735305;9237992;8586444;7972084;7862132;7618288;7490742;3175763;11278278;10899322;9330696;9103436;22446626;21269755;21316340;19559055;19605474;19637911;19667218;19710021;19713932;19733181;19913273;20069304;20379614;16344560;20590675;20844743;20805743;20430589;20439151;20588308;20186421;20300939;20875819;20708476;19454010;20802353;21159878;20931541;21083709;21217697;18422172;22039911;21301145;21587236;21490091;20586835;22336994;22821605;21081666;21933234;19596686;21924887;19471022;22278222;21139048;21890473;21906983;23455922;23728176;23752268;22022963;21252943;19322201;22077581;15858013;19651874;21145461;23115276;21963094;21988832;22751105;23000965;23001123;23075647;23275297;22939629;22833565;23474544;22104209;22174317;22505724;22843049;23079620 103 E7ENU4;H0YCK3;Q9BYM4 AA449679;AB209891;ABBA01049490;ABBA01049491;AF084516;AK097241;AK304153;AL592078;AL606500;AL691488;AMYH01001419;BC017853;BC038227;BE886208;BU430287;BX538232;BX640741;CD108625;CH471121;CR982397;DA507408;DR158819;EF190448;EF190449;EF190450;EF190452;EF190453;NG_011844;NM_001025107;NM_001111;NM_001193495;NM_015840;NM_015841;U10439;U18121;U75503;X79448;X79449;X98559;X98563 AAB06697;AAB97116;AAB97117;AAB97118;AAC13782;AAH38227;ABM73519;ABM73520;ABW03600;ABW03910;BAD93128;BAH14119;CAA55967;CAA55968;CAA67169;CAA67170;CAD98075;CAE45853;EAW53183;EAW53184;EAW53185;EAW53186;EAW53187;EAW53188;EAW53189;EAW53190;NP_001020278;NP_001102;NP_001180424;NP_056655;NP_056656;P55265 Hs.12341 1651674;1663568;1664996;1725591;1734862;1735582;1758591;1767948;1773796;2121520;2127470;5022578;5022651;5037552 A002O29;Cda01b01;D11S2921;D1S1423;D1S1794E;D1S1878E;D8S2279;G62017;RH11954;RH70556;SHGC-12950;SHGC-148872;SHGC-2343;SHGC-32043 ADAR1;AGS6;DRADA;DSH;DSRAD;G1P1;IFI-4;IFI4;K88dsRBP;P136 136 kDa double-stranded RNA binding protein;136 kDa double-stranded RNA-binding protein;OTTHUMP00000035372;OTTHUMP00000035373;OTTHUMP00000231779;adenosine deaminase acting on RNA 1-A;double-stranded RNA-specific adenosine deaminase;dsRNA adenosine deaminase;interferon-induced protein 4;interferon-inducible protein 4 APPROVED protein-coding ENSG00000160710 225 07528 127400;146920;615010 REVIEWED 1320789 ADAT1 adenosine deaminase, tRNA-specific 1 This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 16 16 16 q23.1 59926593 59951568 - 74190499 74214655 - 75632247 75657221 - 6480464 10430867;14702039;12477932;19844255;21890473;21906983;21963094;19322201 23536 H3BNT8;H3BP18;H3BP27;H3BSM1;H3BU72;H3BV89;Q9BUB4 ABBA01017057;AC025287;AF125188;AK001687;AK296834;AK314652;AMYH01007821;BC002758;CH471114;DC395938;NM_012091;NR_036460 AAD48376;AAH02758;ABM83927;ABM87246;BAA91837;BAG37213;BAG59404;EAW95625;EAW95626;EAW95627;NP_036223;Q9BUB4 Hs.729312 1728109;5020946;5020948;5022450;5022578;5037552 D10S275;D1S1423;D8S2279;G35510;G63326;L17971 HADAT1 OTTHUMP00000174951;adenosine deaminase acting on tRNA;tRNA-specific adenosine deaminase 1;tRNA-specific adenosine-37 deaminase APPROVED protein-coding 228 11970 604230 REVIEWED 1320091 ADAT2 adenosine deaminase, tRNA-specific 2 6 6 6 q24.2 144484388 144512268 - 143785662 143813534 - 143743969 143771841 - 6480464 16344560;12477932;12457566;11181995;8889548;20581866;21832049 134637 Q7Z6V4;Q7Z6V5 ABBA01025748;AK126201;AL031320;AMYH01016721;BC037955;BM680217;BX538182;CH471051;DA100320;NM_182503 AAH37955;ACE86534;ACE87213;BAG54295;CAD98054;EAW47867;EAW47868;NP_872309;Q7Z6V5 Hs.709561 2114663;2139618;2142144;2151148;2184453 A008M31;RH46441;RH64939;SHGC-34012;STS-Z40866 DEADC1;DKFZp686L1118;FLJ44213;TAD2;dJ20N2;dJ20N2.1 OTTHUMP00000017329;adenosine deaminase, tRNA-specific 2, TAD2 homolog;deaminase domain containing 1;deaminase domain-containing protein 1;tRNA-specific adenosine deaminase 2;tRNA-specific adenosine deaminase 2 homolog;tRNA-specific adenosine-34 deaminase subunit ADAT2 APPROVED protein-coding 21172 VALIDATED 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 229 1606188 ADC arginine decarboxylase 1 1 p35.1 33319301 33358582 + 33546714 33585995 + 6480464;6907045 11587527;18330478;17900240;17582600;17558447;16916800;16710414;15670771;15489334;14763899;14738999;14702039;12477932;11853319;19756694;19956990;20147969;20188728;19832840 113451 Q96L55 AB075825;ABBA01023386;AK057051;AK095127;AK122697;AK315677;AL020995;AL832640;AMYH01000477;AY050634;AY050635;AY050636;AY050637;AY050638;AY325129;BC010449;BC028128;CH471059;NM_052998 AAH10449;AAH28128;AAL08049;AAL08050;AAL08051;AAL08052;AAL08053;AAQ62560;ABM82980;ABM86174;BAB71356;BAB85531;BAC04489;BAG38042;BAG53674;EAX07469;EAX07470;EAX07471;EAX07472;EAX07473;EAX07474;EAX07475;EAX07476;EAX07477;EAX07478;EAX07479;EAX07480;EAX07481;EAX07482;NP_443724;Q96A70 Hs.101807 1732806;1775422;1856950;2124781 D1S1259;SHGC-74540;SHGC-74543;SHGC-74552 AZI2;KIAA1945;ODC-p;ODC1L ARGDC;ODC antizyme inhibitor-2;ODC-paralogue;OTTHUMP00000004284;OTTHUMP00000004285;OTTHUMP00000004286;antizyme inhibitor 2;arginine decarboxylase;ornithine decarboxylase like;ornithine decarboxylase-like protein;ornithine decarboxylase-paralog protein-coding ENSG00000142920 29957 17657 608353 VALIDATED 1317936 ADCK1 aarF domain containing kinase 1 14 14 14 q24.3 58304590 58438453 + 77336227 77470047 + 78266426 78400297 + 1580863;6480464 15489334;15203218;14702039;12477932;12471243;16169070;20877624 57143 F8W9Q8;G3V3J2;G3V426;Q86TW2 ABBA01030641;ABBA01030642;ABBA01030643;AC008372;AI866496;AK096919;AK126928;AK299430;AMYH01005885;AMYH01005886;AMYH01005887;BC017459;BC058906;BX248292;CD630155;CH471061;DN996748;NM_001142545;NM_020421 AAF23326;AAH58906;BAG53397;BAG61409;CAD62620;EAW81309;EAW81310;NP_001136017;NP_065154;Q86TW2 Hs.413208 1341749;1774344;1846828;1847615;2122340;2142940;2143865;2151521;2163173;2180641;2184606;7186113 A006C45;D14S254;D14S873;G29191;G35597;G35801;G35941;G36044;G36065;G36087;WI-11547 FLJ39600 OTTHUMP00000246285;OTTHUMP00000246289;aarF domain containing kinase 1;uncharacterized aarF domain-containing protein kinase 1 protein-coding ENSG00000063761 19038 10630 VALIDATED 1322312 ADCK2 aarF domain containing kinase 2 7 7 7 q34 135095002 135116957 + 140019422 140041377 + 140372953 140394908 + 6480464 15489334;12853948;12690205;12477932;9110174;8619474;20877624;15324660;22118674 90956 A4D1T6;C9JE15;H7C4I2;H7C5M5;Q7Z695 AACC02000020;ABBA01034085;AC006344;AC006452;AF131745;AMYH01017991;AY302592;BC014107;CH236950;CH471070;NM_052853 AAD43192;AAH14107;AAP60021;EAL24025;EAW83956;EAW83957;NP_443085;Q7Z695 Hs.534141 1652244;2135183 D4S3183;D7S2105E AARF;MGC20727 OTTHUMP00000212102;OTTHUMP00000212103;OTTHUMP00000212104;OTTHUMP00000212105;aarF domain containing kinase 2;putative ubiquinone biosynthesis protein AarF;uncharacterized aarF domain-containing protein kinase 2 protein-coding ENSG00000133597 19039 10631 VALIDATED 1313570 ADCK5 aarF domain containing kinase 5 8 8 8 q24.3 141773087 141792916 + 145568539 145589265 + 145597731 145618457 + 6480464 14702039;16421571;15489334;12477932;20877624 203054 B3KS46;E9PJ20;E9PLF3;Q3MIX3;R4GN53 ABBA01005207;ABBA01005208;ABBA01005209;AC233992;AF205589;AK092773;AMYH01019151;BC031570;BC032402;BC064345;BC085013;BC101659;BC143322;BC143326;BI825038;BM146288;BU845476;CH471162;NM_174922 AAH31570;AAH64345;AAH85013;AAI01660;ADZ15774;BAG52608;EAW82111;EAW82112;EAW82113;EAW82114;NP_777582;Q3MIX3 Hs.283374 1701588 RH104428 FLJ35454;MGC126708 OTTHUMP00000228830;aarF domain containing kinase 5;uncharacterized aarF domain-containing protein kinase 5 protein-coding ENSG00000173137 21738 12427 VALIDATED 1319601 ADCY1 adenylate cyclase 1 (brain) This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 p13-p12 45580646 45729237 + 45614125 45762715 + 1580863;2312469;6480464;6484113;6907045 18948702 8314585;12626323;19156168;19058789;19029295;17586501;16531006;15361543;15133516;14702039;12853948;12743114;12690205;12503609;12477932;11549699;11299302;8692867;7959689;2121366;10808179;10807185;10089566;11884542;14993377;19726641;19834535;2165385;7937899;8476432;8663304;9417641;20554763 107 C9J1J0;Q08828;Q59FG4;Q8NFM5 AACC02000109;AACC02000110;AB209496;ABBA01058250;AC069008;AC091439;AF086306;AF497515;AK024415;AK055343;AK095518;AK095665;AL707720;AMYH01017223;AMYH01017224;AW956248;BC036858;BC041473;BU181704;CH236960;CH471128;L05500;NM_001281768;NM_021116 AAA02907;AAM94372;AAS07467;BAD92733;EAL23741;EAW61042;EAW61043;EAW61044;EAW61045;EAW61046;EAW61047;NP_001268697;NP_066939;Q08828 Hs.192215 1643704;1656579;1675862;1683261;1758073;1764905;1795314;1848973;1848975;2125198;2126279;2130382;2142484;2160364;2184085;5022578;5024039;7186078 A001Y39;A008R05;ADCY1_682;AFM158xb12;D16S325;D1S1423;D7S536E;G19797;RH80785;RH99222;SHGC-147274;SHGC-148462;SHGC-57854;STS-R59992;STS-Z41290;WI-11127;WI-18399 AC1 3',5'-cyclic AMP synthetase;ATP pyrophosphate-lyase 1;Ca(2+)/calmodulin-activated adenylyl cyclase;OTTHUMP00000207996;adenyl cyclase;adenylate cyclase type 1;adenylate cyclase type I;adenylyl cyclase 1 APPROVED protein-coding ENSG00000164742 232 00053 103072 REVIEWED 1343862 ADCK3 aarF domain containing kinase 3 This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 200318754 200366064 + 225194561 225241869 + 227127938 227175246 + 1580863;6480464;7240710 18319074;15498874;18319072;16710414;16344560;16189514;15489334;14702039;12477932;11888884;20877624;21296186;23383273;20186120;21903422;22036850;21139048;21890473 56997 E7EVZ8;Q5T7A2;Q5T7A4;Q8NI60 AB073905;ABBA01009622;ABBA01009623;ABBA01009624;ABBA01009625;AF218003;AI888739;AJ278126;AK074693;AK090494;AK092784;AK126200;AK293571;AK297735;AK300537;AK301012;AL137511;AL353689;AMYH01001779;BC005171;BC129930;BX648860;CH471098;DA925261;NG_012825;NM_020247 AAG17245;AAH05171;AAI29931;BAB91363;BAC11143;BAG52171;BAG57042;BAG60085;BAG62245;BAG62629;CAC00482;CAH56132;EAW69801;EAW69802;EAW69803;EAW69804;EAW69805;NP_064632;Q8NI60 Hs.118241 1692500;1700602;1769605;1775527;2128416 AL033902;Bdy96e07;RH103923;RH16026;RH41876 ARCA2;CABC1;COQ10D4;COQ8;MGC4849;SCAR9 OTTHUMP00000035734;OTTHUMP00000035735;OTTHUMP00000035736;OTTHUMP00000035737;OTTHUMP00000038685;aarF domain-containing protein kinase 3;chaperone activity of bc1 complex-like, mitochondrial;chaperone, ABC1 activity of bc1 complex homolog;chaperone, abc1 activity of bc1 complex like (s. pombe);chaperone-ABC1-like;coenzyme Q8 homolog APPROVED protein-coding ENSG00000163050 16812 07375 606980;612016 REVIEWED 2303886 ADCY10P1 adenylate cyclase 10 (soluble) pseudogene 1 6 6 6 p21.1 42621455 42661263 + 41208063 41214965 + 41068773 41108573 + 12477932 221442 ABBA01050760;AI243114;AK126092;AK128294;AL031778;AL133404;AL833650;AMYH01016291;BC126399;BX537595;BX648193;NR_026938 BAC87372 Hs.374076 1675636;1694190;1725007;1849212;2171713;2181246;2183117;5014051;5021872;5022200;5037552 AL035168;D6S1115E;D6S1425;D6S2155;D8S2278;D8S2279;L18426;RH118799;RH46298;RH98544;sY3084 FLJ46432 APPROVED pseudo ENSG00000161912 44143 17323 VALIDATED 737484 ADCY10 adenylate cyclase 10 (soluble) The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and insensitive to G protein or forskolin regulation. It is thought to function as a general bicarbonate sensor throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome reaction. Genetic variations in this gene are associated with absorptive hypercalciuria type 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 1 1 q24 166045506 166149964 - 167778625 167883453 - 2312469;6480464;6907045 18948702 9874775;19093065;19064610;18209474;17591988;16344560;16144836;12958208;12609998;12477932;12475901;11932268;11875252;11423534;10915626;10737962;10446129;9694905;12626323;14993377;19536175;20130594;20379614;2165385;7937899;8663304;9417641;21994938;22775536;23255611 55811 Q96PN6 ABBA01047239;ABBA01047240;ABBA01047241;AF176813;AF271058;AF299350;AF331033;AK302884;AK310395;AK310531;AL035122;AMYH01001484;BC117366;BC117372;CH471067;DB063660;NG_016139;NM_001167749;NM_018417;Z97876;Z99943 AAF65931;AAF74296;AAI17367;AAI17373;AAK96045;AAL57036;BAG64062;CAA22684;EAW90804;EAW90805;EAW90806;EAW90807;NP_001161221;NP_060887;Q96PN6 Hs.320892 1336589;1774711;2138878;7186020 AL009926;D1S431;SHGC-75875 HCA2;RP1-313L4.2;SAC;SACI;Sacy 3',5'-cyclic AMP synthetase;AH-related protein;ATP pyrophosphate-lyase;OTTHUMP00000032525;OTTHUMP00000032526;adenylate cyclase type 10;germ cell soluble adenylyl cyclase;hsAC;testicular soluble adenylyl cyclase;testicular soluble adenylyl cyclase (SAC) APPROVED protein-coding ENSG00000143199 21285 05549 605205 REVIEWED 1322771 ADCK4 aarF domain containing kinase 4 This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 19 q13.2 37997846 38023215 - 45889274 45914440 - 41197434 41222790 - 1580863;6480464 16344560;15489334;14702039;12477932;9110174;8619474;12107410;20877624;23088713;21890473;22081228 79934 M0QZZ2;M0R001;M0R011;M0R0F4;M0R0L2;M0R2F4;M0R307;M0R340;M0R362;M0R3F7;Q96D53 ABBA01040785;ABBA01040786;AC010412;AF052122;AK022291;AK057199;AMYH01009807;AU121879;BC013114;BC013884;BC027473;CA397752;CH471126;NG_027800;NM_001142555;NM_024876 AAH13114;AAH27473;ABM82617;ABM85800;BAB14004;EAW56987;EAW56988;EAW56989;EAW56990;EAW56991;NP_001136027;NP_079152;Q96D53 Hs.130712 1681620;1700548;1778582;1779706 G34996;RH103895;RH75304;SHGC-153683 FLJ12229 aarF domain containing kinase 4;uncharacterized aarF domain-containing protein kinase 4 APPROVED protein-coding ENSG00000123815 19041 10632 REVIEWED 736882 ADCY5 adenylate cyclase 5 This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 q21.1 124486089 124650082 - 123001143 123167392 - 1300048;2315006;2312469;2315004;6480464;6484113;6907045 10894801;18948702;17010343 22581228;22693455;17110384;16973443;16641997;14702039;12604604;12503609;11299302;10481931;9748257;9275169;9268375;8206971;8034296;7759492;10808179;10807185;10089566;11549699;11884542;14993377;20081857;20081858;20372150;20419449;20490451;8663304;20571754;19783621;20231277;20484983;20889853;21115086;11590159;21307140;21712988;21789219;21887289;21949744;21890473;22250198;23202124;23251661;22505724;22956255 111 B3KWA8;B7Z2C7;C9JQ38;C9JRT8;F8WBM0;O95622 ABBA01016458;ABBA01016459;ABBA01016460;ABBA01016461;AC025571;AC112503;AF497517;AK093840;AK098381;AK124691;AK294565;AK302711;AK303070;AK316488;AMYH01013432;AMYH01013433;AMYH01013434;BK000371;BX647739;CH471052;NM_001199642;NM_183357;U65473 AAD00121;AAI56218;AAM94374;BAG52770;BAG54070;BAH11813;BAH13787;BAH13892;BAH14859;DAA00057;EAW79450;NP_001186571;NP_899200;O95622 Hs.593292 1337511;1685089;1731687;1761599;1764683;1765315;1766129;2134391;7185142;7187409 D3S1267;D3S1672;D3S2896E;RH91460;SHGC-145592;SHGC-148276;SHGC-148807;SHGC-149509 AC5;FDFM ATP pyrophosphate-lyase 5;OTTHUMP00000215640;OTTHUMP00000215641;OTTHUMP00000215642;OTTHUMP00000215643;adenylate cyclase type 5;adenylate cyclase type V;adenylate cyclase, type V;adenylyl cyclase 5 APPROVED protein-coding ENSG00000173175 236 08973 600293;606703 REVIEWED 734219 ADCY2 adenylate cyclase 2 (brain) This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008] 5 5 p15.3 7449343 7883194 + 7396343 7830194 + 1298711;1580863;1300048;2312469;6480464;6484113;6907045 1427768;18948702 19156168;18519826;16344560;15489334;14702039;12503609;12477932;11549699;22589738;11299302;10470851;9268375;9110174;8692867;8619474;7959689;10808179;10807185;10089566;11884542;20664520;12626323;14993377;20379614;2165385;7937899;8663304;9417641;21228062;22461431;21528083;22864933 108 B7Z2C1;D6REB8;H0YA58;Q08462;Q71UM8 AB028983;ABBA01016160;ABBA01016161;ABBA01020576;AC010346;AC010437;AC024577;AC093305;AC113366;AF070583;AF410885;AK123013;AK127036;AK294555;AK295531;AK299775;AK304041;AK307474;AMYH01014886;AMYH01014887;AMYH01014888;AMYH01014889;AMYH01014890;AMYH01014891;BC111743;BE677757;BK000372;CH471102;CR749634;CS072119;DB029098;DB481853;L21993;NM_020546;X74210 AAA64923;AAC28647;AAI11744;AAP97285;BAA83012;BAG53849;BAG58443;BAG61658;BAG64952;BAH11807;CAA52282;CAH18428;CAI93390;DAA00058;EAX08097;NP_065433;Q08462 Hs.481545 1340824;1342327;1644881;1650515;1655774;1656086;1667880;1678891;1735488;1748495;1750647;1762259;1763561;1765651;1766449;1766869;1782670;1785632;2112218;2113780;2130437;2141771;2150967;2218184;5014051;5015619;5016700;5022200;5037552;5117897;7186456 ADCY2;ADCY2_4036;D11S3114;D5S1607E;D5S1736;D5S1866;D5S1953;D5S2572;D5S2717;D5S2784;D5S676;D8S2278;D8S2279;GDB:631813;L18426;RH15976;RH26804;RH78017;RH79802;SHGC-111957;SHGC-146119;SHGC-147265;SHGC-149093;SHGC-149779;SHGC-152285;SHGC-153179;SHGC-156108;SHGC-23973;SHGC-30499;STS-L21993 AC2;FLJ16822;FLJ45092;HBAC2;KIAA1060;MGC133314 3',5'-cyclic AMP synthetase;ATP pyrophosphate-lyase 2;OTTHUMP00000115545;adenylate cyclase II;adenylate cyclase type 2;adenylate cyclase type II;adenylyl cyclase 2;type II adenylate cyclase APPROVED protein-coding ENSG00000078295 233 00052 103071 REVIEWED 733733 ADCY8 adenylate cyclase 8 (brain) Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008] 8 8 q24 131861729 132123854 - 131792547 132052835 - 1580863;1300048;2312469;6480464;6484113;6907045 18948702 8163524;12626323;8076676;19171672;19156168;19029295;18480272;18163389;17586501;16613843;16258073;12890691;12503609;12477932;11457491;11299302;11076863;10075700;1715695;1427768;10808179;10807185;10089566;11884542;22494970;21046358;14993377;19691954;20379614;2165385;7937899;8476432;8663304;9417641;20677014;20410303;21116278;20675917 114 E5RFR2;E7EVL1;P40145;Q4F7X0 ABBA01014221;ABBA01014222;ABBA01032442;ABBA01032443;AC011974;AC037453;AC087341;AC103726;AMYH01019031;AMYH01019032;CH471060;DQ104739;DR003657;M83533;NM_001115;Z35309 AAA35523;AAI11457;AAZ13596;CAA84552;EAW92135;NP_001106;P40145 Hs.591859 1340426;1653579;1717851;1721875;1763807;1764845;1786884;5094380;5109507;5125367 D8S1092;D8S1208;D8S1765;G54644;G59968;RH122757;SHGC-147478;SHGC-148407;SHGC-36821;SHGC-85246 AC8;ADCY3;HBAC1 ATP pyrophosphate-lyase 8;OTTHUMP00000227393;OTTHUMP00000227394;adenylate cyclase type 8;adenylate cyclase type VIII;adenylyl cyclase 8;adenylyl cyclase-8, brain;ca(2+)/calmodulin-activated adenylyl cyclase APPROVED protein-coding ENSG00000155897 239 00051 103070 REVIEWED 736108 ADCY4 adenylate cyclase 4 This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 14 14 14 q12 4652191 4668489 - 23857410 23873704 - 24787555 24804277 - 1580863;1300048;2312469;6480464;6484113;6907045 18948702 15489334;14702039;12503609;12477932;11549699;11299302;11055432;7959689;7766992;10808179;10807185;10089566;11884542;21228062;12626323;14993377;17081159;2165385;8663304;9417641 196883 G3V258;G3V262;H0YJ57;H0YLM0;H0YN72;Q6ZTM6;Q86TZ7;Q8NFM4 ABBA01061341;AF086230;AF088070;AF497516;AK056745;AK122714;AK126468;AK131333;AL096870;AMYH01005611;BC015982;BC027943;BC117473;BC117475;BC143947;BX248285;BX537489;CH471078;NM_001198568;NM_001198592;NM_139247 AAH15982;AAI17474;AAI17476;AAM94373;BAB71270;BAC86560;BAD18492;BAG53686;CAD62613;EAW66023;EAW66024;EAW66025;EAW66026;EAW66027;EAW66028;NP_001185497;NP_001185521;NP_640340;Q8NFM4 Hs.443428 1678505;1679333;2191647 MARC_3911-3912:996679167:1;RH91896;RH93999 AC4 ATP pyrophosphate-lyase 4;OTTHUMP00000164788;OTTHUMP00000246779;OTTHUMP00000246890;adenylate cyclase type 4;adenylate cyclase type IV;adenylyl cyclase 4 APPROVED protein-coding ENSG00000129467 235 11614 600292 REVIEWED 1312370 ADCY9 adenylate cyclase 9 Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008] 16 16 p13.3 3952653 4106187 - 4012650 4166186 - 1358365;1580863;2312469;6480464;6484113;6907045 11840511;18948702 9628827;19156168;16344560;15879435;14996950;12972952;12503609;12168954;12082561;11299302;9628581;8662814;10808179;10807185;10089566;11884542;12477932;12626323;14993377;20175803;20459687;20522523;2165385;8663304;9417641;14702039;20101707;20157112;20935630;17081983;21890473;21906983;21987572;22778270 115 I3L300;I3L342;I3NI20;O60503 AB011092;ABBA01026755;ABBA01026756;ABBA01026757;AC005736;AF036927;AJ133123;AK022108;AMYH01007099;AU141090;AW518323;AY028959;BC068612;BC136657;BC136658;BC151207;BC151229;BI770493;BQ614080;CH471112;DQ005545;DQ008441;NG_011434;NM_001116 AAC24201;AAI36658;AAI36659;AAI51208;AAI51230;AAK29464;AAY21237;AAY27880;BAA25446;CAB65084;EAW85331;EAW85332;NP_001107;O60503 Hs.391860;Hs.610484 1340965;1683249;1688909;1697078;1722865;1773695;1795320;2127655;2128121;2134551;2144352;2149761;2166852;2172756;2187078;5014039 1952;ADCY9_213;D16S2995;D16S3027;D16S3328;D16S758;D22S1584;G35540;G35896;G60525;RH102020;RH15630;RH47122;RH64918;RH68479;STS-Z40718 AC9;FLJ12046 ATP pyrophosphate-lyase 9;adenylate cyclase type 9;adenylate cyclase type IX;adenylyl cyclase 9;type IX ATP pyrophosphate-lyase APPROVED protein-coding ENSG00000162104 240 04489 603302 REVIEWED 735837 ADCY6 adenylate cyclase 6 This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 q12-q13 47446248 47469087 - 49159975 49182820 - 1580863;1300048;2312469;2312654;2313211;2315006;2315004;2312656;6480464;6484113;6907045 18948702;18971210;15579502;10894801;17010343;18431594 19007881;18936250;17916776;17110384;17007567;16973443;16885208;16713569;16631311;15489334;15470083;15302935;14871025;12782409;12748066;12503609;12477932;12168954;11549699;11299302;11162902;10978539;10481931;9920805;9455477;9388262;9228084;8125298;8034296;7959689;10808179;10807185;10089566;11884542;12626323;14993377;19546162;2165385;7937899;8663304;9417641;17081159;20861226;20732959;21228062;18403039;21139048;21890473 112 F8VZJ5;O43306 AB007882;ABBA01031485;ABBA01031486;ABBA01031487;AC117498;AF250226;AF250227;AK225224;AK294446;AMYH01004435;BC064923;BF511227;BX537664;CH471111;NM_015270;NM_020983;U65474 AAD00122;AAF82478;AAF82479;BAA24852;BAG57685;EAW58001;EAW58002;NP_056085;NP_066193;O43306 Hs.525401;Hs.694408 1767552;1795318;2155033;5015861;7185938 A006M44;ADCY6_211;D10S16;RH78534 AC6;DKFZp779F075;KIAA0422 ATP pyrophosphate-lyase 6;OTTHUMP00000243669;OTTHUMP00000243670;adenylate cyclase type 6;adenylate cyclase type VI;adenylyl cyclase 6;ca(2+)-inhibitable adenylyl cyclase APPROVED protein-coding ENSG00000174233 237 02621 600294 REVIEWED 732499 ADCY3 adenylate cyclase 3 This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. [provided by RefSeq, Jul 2008] 2 2 p23.3 24895542 24995559 - 25042038 25142055 - 70798;704368;1580863;2312469;6480464;6484113;6907045 2255909;12798295;18948702 15815621;15489334;14702039;12782409;12623444;12503609;12477932;12122055;11549699;11299302;11162902;9768837;9628581;8798667;8476432;8034296;7959689;10808179;10807185;10089566;11884542;9920776;18391951;17895882;17586501;17581954;16344560;16303743;12626323;14993377;19576885;20201924;2165385;7937899;8663304;9417641;20935630;21042317;21079816;21139048;21890473;21906983;23077041;21980299;22344219;20467438;21963094;23128233;23449627 109 B3KT86;C9J8E0;C9J969;C9JEN9;C9JLX3;C9JYB5;H7C1A6;H7C1S5;O60266 AB011083;ABBA01045122;ABBA01045123;AC012073;AF033861;AK027857;AK075424;AK095173;AK122926;AMYH01010174;AMYH01010175;BC020148;BC126235;BC144119;CH471053;DA864173;NM_004036 AAD13403;AAI26236;AAI44120;AAY14787;ADR83435;BAA25437;BAC11613;BAG51385;BAG52998;BAG53802;EAX00739;EAX00740;EAX00741;NP_004027;O60266 Hs.467898 1335258;1342376;1648033;1660957;1688118;1759405;1795316;1797268;1847858;2145529;5092800 A006F11;ADCY3_1034;ADCY3_2051;D17S757;D2S2168;D5S2617;G32338;RH36332;RH80427;SHGC-150739;WI-11275 AC3;KIAA0511 AC-III;ATP pyrophosphate-lyase 3;OTTHUMP00000119992;OTTHUMP00000201145;adenylate cyclase type 3;adenylate cyclase type III;adenylate cyclase, olfactive type;adenylyl cyclase 3;adenylyl cyclase, type III APPROVED protein-coding ENSG00000138031 234 02620 600291 REVIEWED 1352182 ADFN albinism-deafness syndrome 7240710 122 247 735780 ADCY7 adenylate cyclase 7 This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. [provided by RefSeq, Jul 2008] 16 16 q12.1 48879324 48909544 + 50321823 50352043 + 1298709;1580863;2312469;6480464;6484113;6907045 7860067;18948702 19008230;18541530;17135423;16344560;15581358;15489334;14702039;12503609;12477932;12454008;11665607;11299302;9034014;7584028;7584026;10808179;10807185;10089566;11884542;22264442;11113152;12626323;14993377;17760784;19874574;2165385;7937899;8663304;9417641;21822266;21481845;21139048;21890473;21988832;23000965;23128233;22505724 113 F5H4D1;F5H699;H3BMA5;H3BQ93;I3L2Y1;I3L3Q5;P51828 ABBA01000875;AC007597;AK093706;AMYH01007659;BC039891;BC098566;BC126271;BC144120;BM543987;BU631614;CH471092;D25538;DA047753;NM_001114 AAH39891;AAI26272;BAA05021;BAG52752;EAW82753;EAW82754;EAW82755;NP_001105;P51828 Hs.513578 1663926;1679101;1744507;1764339;1766379;2170456;2175281 D16S2967;G10670;GDB:511421;RH25275;SHGC-147943;SHGC-149723;SHGC-60768 AC7;FLJ36387;KIAA0037 ATP pyrophosphate-lyase 7;OTTHUMP00000164225;adenylate cyclase type 7;adenylate cyclase type VII;adenylyl cyclase 7 APPROVED protein-coding ENSG00000121281 238 02663 600385 REVIEWED 1343309 ADGB androglobin 6 6 6 q24.3 147660570 147877021 + 146961615 147178291 + 146920136 147136598 + 14702039;14574404;11329013;22115833;22019778;21628590 79747 E5RFN4;E5RG76;E5RGD1;E5RIM8;F8W7W4;H0Y333;H0Y334;H0Y335;H0YBE5;H0YC38;Q5TAU2;Q8N7X0;Q9H5S1 ABBA01025720;AK026774;AK097570;AL138916;AL158199;AL359547;AL832192;AMYH01016727;AMYH01016728;BG199812;CH471051;DN831198;NM_024694 BAB15549;BAC05106;EAW47827;NP_078970;Q8N7X0 Hs.720870 1644548;1749657;2137173;2148627 RH46623;SHGC-111339;WI-11840;WI-16660 C6orf103 OTTHUMP00000225365;androglobin;calpain-7-like protein APPROVED protein-coding ENSG00000118492 21212 614630 PROVISIONAL 736792 ADCYAP1R1 adenylate cyclase activating polypeptide 1 (pituitary) receptor type I This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010] 7 7 p14 31058667 31112836 + 31092076 31151093 + 1580863;2315956;2315964;6480464 19647005;18563302 14702039;16805430;16939974;7902709;19269029;19086053;18353507;17470806;16888199;16823490;16572459;16401644;16372333;16226889;15670850;15518890;14742913;12948842;12732341;12690205;12573802;12477932;12409233;12409223;11959368;11930171;10764955;10698193;10583729;10562300;10235634;9543159;8954788;8933357;8770902;8703026;8663363;8253796;7851900;22609358;21621269;20026142;18240029;19926922;12036966;20395540;18577758;16344560;21350482;21185349;21912390;22539193;22581436;22961270;23147486;23328528 117 C9JVH3;E9PFU5;H0Y813;P41586 AACC02000087;AB065700;ABBA01056815;ABBA01056816;ABBA01056817;AC006466;AI815550;AK096545;AK124304;AK226138;AK290046;AMYH01017151;AMYH01017152;AY366498;AY462278;AY462279;AY495951;AY495952;BC117116;BC136267;BC143679;BX538156;CA432770;CH471073;DA809763;NG_029869;NM_001118;NM_001199635;NM_001199636;NM_001199637;U09216 AAA19323;AAI17117;AAI36268;AAI43680;AAQ72806;AAR26314;AAR26315;AAR87870;AAR87871;BAC05923;BAF82735;EAL24444;EAW93978;NP_001109;NP_001186564;NP_001186565;NP_001186566;P41586 Hs.377783 1774797;1854017;2111083;2117148;2137163;2158814;2170251;2170253 A001T12;ADCYAP1R1;BCD1665;D7S604E;G19621;RH66404;T03315;WI-11192 PAC1;PAC1R;PACAPR;PACAPRI OTTHUMP00000123435;OTTHUMP00000202503;OTTHUMP00000202504;OTTHUMP00000202505;PACAP receptor 1;PACAP type I receptor;PACAP-R-1;PACAP-R1;adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1;adenylate cyclase activating polypeptide 1 receptor 1;pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop;pituitary adenylate cyclase-activating polypeptide type I receptor APPROVED protein-coding ENSG00000078549 242 00045 102981 REVIEWED 732730 ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 18 18 p11 894944 902173 + 904944 912173 + 1300256;1580863;2325295;2315956;2325258;2325308;2325255;2315964;2325309;2325314;2325306;2325298;6480464 11687615;16888218;19647005;19427307;15702783;14742740;18563302;15698618;9864055;15913892;16689670 2302217;16805430;1730060;10698193;16939974;19470168;19269029;19120039;19086053;18782879;18353507;18349695;17962362;17470806;17430174;17387318;17175032;16888207;16697281;16687279;16493055;16226889;16148159;15834139;15518890;15489334;15356166;15048918;15036651;12948842;12754213;12716746;12686458;12573802;12504599;12477932;12429744;12417650;12409225;12409223;12145407;11972030;11968092;11713978;11515750;11350957;10921074;10583729;10562300;9313778;8504103;8353512;8253796;8146174;1739432;1483839;1335692;20500521;20034524;17431645;19701709;19712974;19914336;19926922;20072116;20133634;20180986;20414143;20468064;7680413;20675276;20554694;20671407;21109983;21898124;21350482;11175907;21259400;22610912;1544422;16344560;19805477;21388403;8577931;9346858;21383633;9603988;22108610;22415357;22539193;22581436;22638857;22644900;22648511;23147486;23251661;23220033 116 P18509;Q53BH6 AB537500;ABBA01049825;AK294233;AK313050;AMYH01008774;AP000894;AY592943;AY592948;BC093837;BC101803;CH471113;DA145895;DC320719;DN991692;NM_001099733;NM_001117;S83513;X60435;Z64808 AAB21470;AAH93837;AAI01804;AAT92256;AAT92261;BAG35881;BAH11708;BAJ09301;CAA42962;EAX01706;NP_001093203;NP_001108;P18509 Hs.531719;Hs.727476 1649056;1740239;1742467;1852907;2170442;2218980 ADCYAP1__4255;D18S1079;D18S1231;D18S1372;GDB:197131;RH17915 MGC126852;PACAP OTTHUMP00000162201;adenylate cyclase activating polypeptide 1;pituitary adenylate cyclase-activating polypeptide;prepro-PACAP 2314813 INSUL28_H APPROVED protein-coding ENSG00000141433 241 02369 102980 REVIEWED 733925 ADD1 adducin 1 (alpha) Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 4 4 p16.3 2815382 2901587 + 2845584 2931803 + 1298717;1302895;631736;1331525;1624953;1580863;1559299;5147993;5147995;5147999;5147996;5147998;5148000;5148001;6480464;7174725;7240710 1840603;15474463;8543181;15118671;9149697;11775124;19731222;17082469;18679149;16100725;11226670;17051589;16420563;19838659 7642559;16289097;3693401;8626479;10823823;19274077;19263529;19247266;19243623;19238444;19242491;19199261;19166692;19148102;19145770;19145769;19131662;19103106;19057513;19047752;18977990;18800139;18787518;18667944;18660489;18657677;18591455;18524856;18513389;18475162;18458162;18413308;18398333;18393230;18003973;17984662;17921817;17825147;17765140;17472579;17452507;17301826;17267840;17215849;17189961;17083073;17081983;17003363;16970091;16724011;16702981;16615274;16612256;16531798;16497648;16450155;16392768;16314886;16266470;16080807;16043664;15910744;15834281;15824464;15822905;15815621;15773232;15716695;15608390;15554870;15493144;15378162;15326084;15302935;15187197;15110895;15097233;15059531;15055253;15039125;14733918;14643575;14553962;14530292;14508192;13679477;12885793;12697976;12427140;12394950;12195119;12195118;12172317;12623934;12477932;12107246;12082592;12052841;11926892;11918988;11918733;11882573;11847182;11728946;11711521;11528213;11518842;11447495;11283377;11116113;11110979;10950304;10585876;10516168;10391210;10209029;9679146;9674650;8946164;8810272;8663089;7959767;7774961;7490111;3600811;2976282;1345173;1284592;22163289;22307086;21228790;19443911;19479237;19559392;19567882;19574959;19620885;19729965;19779330;19779464;19960031;20145305;20160191;20237496;20473689;19913121;20536507;20565774;20577119;20628086;20667857;17074803;20838486;20877298;20927398;20929695;21339657;20810786;22476228;22678362;23284854;12107410;8889548;21364877;21194526;22272309;21900206;22117679;21139048;21906983;21736685;22197999;22677360;22198647;23000965;23383273 118 A2A3N8;D6RAH3;D6RF25;D6RJE2;E7ENY0;E7EV99;H0Y9H2;H0YFD8;H0YG19;Q86XM2;Q9UJB6 ABBA01029483;ABBA01029484;ABBA01029485;AK025413;AK295457;AK298523;AK309186;AL121750;AL390065;AMYH01013885;BC013393;BC042998;BI460192;BU729599;BX465861;CA391117;CH471131;CR936693;CR995783;CX783962;D44632;L07261;L29296;NG_012037;NM_001119;NM_014189;NM_014190;NM_176801;S70310;S70312;Z68280;Z74617 AAB05645;AAB30913;AAH13393;AAH42998;BAG58391;BAG60726;CAA98970;CAI95603;CAM28230;CAM28231;CAM28232;EAW82498;EAW82499;EAW82500;EAW82501;EAW82502;EAW82503;EAW82504;EAW82505;NP_001110;NP_054908;NP_054909;NP_789771;P35611 Hs.183706 1644926;1656651;1666748;1668411;1735372;1742469;2115182;2129196;2129469;2137112;2146523;2162629;2171251;5020414;5022578;5024756 D1S1423;D4S2503E;G16715;G21856;GDB:197234;IB433;L17688;RH80030;SGC38240;SHGC-31191;SHGC-50709;SHGC-59534;SHGC-59535;SHGC-59864;SHGC-67376;SHGC-67653 ADDA;MGC3339;MGC44427 OTTHUMP00000151163;OTTHUMP00000151164;OTTHUMP00000151165;OTTHUMP00000218664;OTTHUMP00000218665;adducin 1, alpha;alpha-adducin;erythrocyte adducin alpha subunit;erythrocyte adducin subunit alpha APPROVED protein-coding ENSG00000087274 243 00036 102680;145500 REVIEWED 736575 ADD2 adducin 2 (beta) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] 2 2 p13.3 70742770 70848837 - 70889216 70995375 - 1298717;1625293;1331525;1300257;1580863;6480464;7174725 1840603;16497648;15118671;10845937;19838659 7642559;3693401;8626479;18959617;18787518;18667944;18003638;17854487;17301826;16116087;16105548;15963851;15834281;15815621;15716695;15528469;15489334;15345747;15146197;14553963;14517477;12951058;12653680;12477932;12427140;11526103;10485892;9679146;9244430;8810272;8566798;8563174;7999065;7707875;7490111;16344560;20379614;8889549;19913121;20628086;18347014;21697133;21832049;21606488;21139048 119 C9J080;C9J299;C9JJK3;C9JTM0;Q05DK5;Q5U5P4 AB209227;AB593080;ABBA01075539;ABBA01075540;AC005234;AC007395;AF001597;AF486420;AF486421;AF486422;AF486423;AK291007;AK297250;AK309773;AMYH01010425;BC008709;BC010237;BC011416;BC027876;BC041666;BC051882;BC056881;BC065525;BX119247;CH471053;CN428088;DA501584;N53078;NG_029481;NM_001185054;NM_001185055;NM_001617;NM_017482;NM_017488;S81079;S81083;U43959 AAA86421;AAD12715;AAD14349;AAH08709;AAH10237;AAH41666;AAH51882;AAH56881;AAH65525;AAP71863;AAP71864;AAP71865;AAP71866;BAD92464;BAF83696;BAG59729;BAJ84020;EAW99798;EAW99799;EAW99800;EAW99801;EAW99802;EAW99803;EAW99804;EAW99805;EAW99806;EAW99807;EAW99808;NP_001171983;NP_001171984;NP_001608;NP_059516;NP_059522;P35612 Hs.188528 1644444;1649706;1755201;2122862;2157692;2173258;2178650;2181360 A004B15;IB387;RH12820;SHGC-142110;SHGC-30541;WI-11693;WI-13671;WI-4105 ADDB OTTHUMP00000160123;OTTHUMP00000160124;OTTHUMP00000203376;OTTHUMP00000203377;OTTHUMP00000203378;OTTHUMP00000203908;OTTHUMP00000203909;OTTHUMP00000203961;adducin 2, beta;beta adducin;beta-adducin;erythrocyte adducin subunit beta APPROVED protein-coding ENSG00000075340 244 00037 102681 REVIEWED 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 254 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 1 1 q43 213588689 213590076 + 240333443 240334830 + 2818582;2294756 100131810 ABBA01033230;AL359918;AMYH01001875;NG_008686 1754147;2126932 D1S2600;SHGC-132176 pseudo 22991 INFERRED 735411 ADD3 adducin 3 (gamma) Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008] 10 10 q25.2 111755716 111885313 + 111765726 111895323 + 1300354;1300258;1580863;2317717;6480464 12810632;10485892;15329129 8893809;18787518;18667944;18475162;17081983;15963851;15834281;15716695;15561718;15489334;12477932;11895774;10581174;8125298;2503523;20460270;21164023;16385451;20379614;19913121;20628086;20810786;21139048;21890473 120 Q5VU08;Q9UEY8 AB209810;ABBA01063035;ABBA01063036;ABBA01063037;AK130789;AK223270;AK291488;AL162613;AL590628;AL600737;AMYH01003059;AMYH01003060;BC021694;BC043143;BC057285;BC062559;BI544596;BX647403;BX647442;BX648016;CF457028;CH471066;D67031;EF553523;NM_001121;NM_016824;NM_019903;U37122;Y14372 AAB17126;AAH62559;BAA23783;BAD93047;BAD96990;BAF84177;CAB51805;CAB51806;CAI46048;EAW49571;EAW49572;EAW49573;EAW49574;NP_001112;NP_058432;NP_063968;Q9UEY8 Hs.501012 1337825;1651973;1661046;1669799;1671050;1687361;1700852;1716547;1716567;1753905;1848871;2110953;2115276;2129281;2133806;2139465;2170136;2171552;2180410;2218186;5037552;5116670;5491728;7183183 1186;A007G14;A008R19;ADD3;ADD3__4199;D10S1199;D10S2337;D10S408E;D10S543;D8S2279;HSC2MD022;RH104052;RH121559;RH121628;RH44681;RH47300;RH78354;RH79633;SHGC-108129;SHGC-33439;STS-AA018233;STS-N93746;sY3122 ADDL OTTHUMP00000020462;OTTHUMP00000020463;OTTHUMP00000020464;adducin 3, gamma;adducin-like protein 70;gamma-adducin APPROVED protein-coding ENSG00000148700 245 03339 601568 REVIEWED 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 1 1 1 p31.1 78226348 78227746 + 79759353 79760482 + 79986754 79988152 + 2818582;23251661 343296 ABBA01074377;AL606527;AMYH01000729;NG_008685 pseudo 22976 INFERRED 1349763 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010] 4 4 q23 100416547 100431165 - 100197523 100212185 - 1580863;6480464;6907045 9982;16153155;2347582;19343046;19193628;19124506;18828806;18510611;18331377;17632320;17185388;16685648;15489334;15279067;14634838;12477932;12392591;12081471;11356310;11303599;10424757;3013304;3006456;2935875;2920825;2737681;2169444;1620113;12050823;16712791;11329013;19526455;19618839;19687126;19874574;19913121;20628086;20634891;20872569;21988832;23456092 124 P07327 ABBA01063673;AC097530;AK290558;AK309597;AMYH01014420;AY948115;BC074738;BC117442;BC126306;BG199182;BT019812;CB116632;CH471057;M12271;M12963;M32656;M37066;NM_000667 AAA51590;AAA51591;AAA52276;AAA68131;AAH74738;AAI17443;AAI26307;AAV38615;AAX20115;BAF83247;EAX06093;EAX06094;NP_000658;P07327 Hs.654433 1683154;2141220;2142432;5119905 D4S570;GDB:187387;L00769;SHGC-51373 ADH1 ADH, alpha subunit;OTTHUMP00000161653;alcohol dehydrogenase 1 (class I), alpha polypeptide;alcohol dehydrogenase 1A;alcohol dehydrogenase subunit alpha;aldehyde reductase APPROVED protein-coding ENSG00000187758 249 00063 103700 REVIEWED 1348288 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008] 4 4 q23 100446552 100461581 - 100227527 100242572 - 1580863;6480464;6907045;7240710 22231434;9982;2398055;19618839;19527514;19486361;19469618;19449376;19420105;19403456;19365573;19343046;19339270;19298323;19262484;19250143;19193628;19185835;19164089;19124506;19124091;19094228;19068087;19019335;18996923;18936436;18818748;18784359;18782342;18773092;18763293;18761854;18715275;18516948;18510611;18500343;18439068;18382665;18336671;18336668;18331377;18322963;18299763;18266839;18254707;18216179;18078815;18056758;18049455;18033686;17963305;17923853;17885622;17850643;17847010;17762315;17631643;17618743;17559546;17517051;17515815;17489985;17486761;17471563;17454860;17421009;17295732;17293864;17292341;17289126;17285601;17279314;17268812;17250612;17207821;17185388;17180580;17134660;17134659;17071628;17036331;16970620;16958672;16930209;16822169;16758956;16737450;16702384;16685648;16608143;16600530;16520888;16440362;16423594;16404797;16385179;16358724;16332725;16324524;16309369;16307179;16235983;16184481;16163053;16135443;16127737;16117582;16086315;16078602;16006997;15957670;15902904;15886702;15863807;15842823;15597094;15542751;15534263;15519646;15511718;15489334;15456134;15342556;15327835;15318112;15318096;15220553;15162847;15084894;14768474;14745297;14693654;14634838;12915519;12915514;12884000;12824748;12777946;12713190;12710951;12668919;12658118;12554615;12545748;12519453;12517056;12505800;12477932;12461493;12452180;12419833;12351924;12244546;12213289;12211622;12189549;12173598;12153842;12089173;12081471;12080432;11966948;11781511;11781503;11748356;11696658;11584144;11410735;11398342;11274460;11259352;11238183;11117576;11051375;10733556;10424757;8663387;8201622;6391920;6374651;3619918;3397059;3006456;3000832;2986130;2935875;2935533;2737681;2679216;2547609;2347582;2295648;2210383;2169444;1896463;22960999;21133627;22560290;19452585;19550411;19655364;19667493;19687126;19698717;19706845;19751749;19769429;19799139;19812523;19826048;19860798;19861527;19874574;19887496;19898482;19948975;20010786;20025435;20031627;20077761;20101753;20171022;20180859;20205700;20219057;20336794;20357489;20401433;20403997;20437850;20477764;20477767;20494945;19913121;20568895;20598484;20628086;20634891;20685249;20806441;20833657;20140262;20700531;21048924;21437268;21378355;21166830;21157980;22931071;20462248;21576033;21168396;21601984;21351086;21497796;22048268;21968928;21284671;21303386;22930414;21355870;21917409;22325912;21895720;22004471;21517275;22363810;22150722;22287615;22292652;21635275;21988832;23149980;23285246;23456092;22703580 125 A8MYN5;D6RHZ6;P00325 ABBA01063673;AC097530;AF040967;AF153821;AI702614;AK299409;AK301018;AK303945;AK304396;AK316501;AMYH01014420;BC033009;BP317995;BX641105;BX647469;CH471057;D00137;DQ017646;L38290;M21692;M24308;M24316;M24317;M32657;NG_011435;NM_000668;X03350;X15447 AAA51592;AAA51884;AAA52277;AAB48003;AAB59496;AAB96912;AAD37446;AAH33009;AAY22180;BAA00084;BAG61391;BAG62635;BAG64873;BAG65231;BAH14872;CAA27056;CAA33487;EAX06095;EAX06096;EAX06097;EAX06098;NP_000659;P00325 Hs.4 1657121;1658676;1715693;1722425;1740883;2113518;2126357;2130783;2187217;5015861;5037552;5119905;5125319;7185938 ADH1B_V67;D10S16;D4S2817;D8S2279;G60286;GDB:170161;GDB:187387;RH119293;SHGC-35417;SHGC-50678;SHGC-59546;SHGC4-136;STS-X15447 ADH2;DKFZp686C06125 ADH, beta subunit;OTTHUMP00000220192;alcohol dehydrogenase 1B;alcohol dehydrogenase 2 (class I), beta polypeptide;alcohol dehydrogenase subunit beta;aldehyde reductase APPROVED protein-coding 250 00065 103720;103780 REVIEWED 1342497 ADH5P4 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4 6 6 6 q12 64710545 64713036 - 66602091 66618187 - 66545470 66547961 - 16201836;2818582;20800603;22318606 642443 Q2VIM7 ABBA01023930;AL391500;AMYH01016397;DQ120656;NG_008303 ABB92441 1341737 D6S1551 ADH5B;RCADH5;bA707M13.2 pseudo 21377 INFERRED 1344246 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008] 4 4 q23 100476672 100492940 - 100257649 100273917 - 1559302;1580863;2325313;6480464;6907045;7240710 14726542;19068087 2935875;6391921;19343046;19339270;19193628;19189524;19124506;19120062;19038239;19019335;18996923;18936436;18846501;18818748;18773092;18761854;18676680;18510611;18331377;18268116;18266839;18254707;18043297;17923853;17885622;17665311;17631643;17629074;17563066;17559142;17543846;17517051;17454860;17449906;17421009;17379229;17295732;17285601;17268812;17185388;17134660;17071628;17018785;16930209;16801984;16758956;16737450;16685648;16675441;16600530;16440362;16415175;16344274;16287084;16239350;16184481;16132793;16117582;16086315;16051248;16039674;16018848;15941567;15910847;15902904;15897724;15863807;15842377;15767341;15734975;15643610;15642852;15519646;15511718;15489334;15375565;15370874;15327835;15318112;15220553;15138216;14745297;14732773;14693654;14691069;14634838;14608084;12915519;12884000;12782305;12750236;12713190;12710951;12668919;12658118;12631283;12554615;12517056;12505800;12500098;12477932;12376487;12173598;11966948;11802217;11752857;11748356;11740346;11700261;11696658;11303599;11274460;11207350;11159741;11051375;11045794;10424757;10405330;8201622;7771649;3758060;3397059;3006456;2737681;2347582;2169444;1896463;1524834;9982;15654505;16712791;19170196;19447389;19486361;19527514;19550411;19581569;19618839;19625176;19692168;19812523;19861527;19874574;19887496;19898482;19948975;20031627;20101753;20171022;20180013;20205700;20350778;20357489;20401433;20437058;20437850;20448861;20453000;20477767;20494945;6391957;19913121;20568895;20615890;20628086;20634891;20810466;20700531;22931071;21437268;21163612;21482329;21705789;22048268;22930414;21303386;23321361;21917409;22325912;22476623;22675424;22363810;22004471;20301387;20301402;22279680;22353233;22414625;23456092 126 P00326;Q71V49 ABBA01063673;AC097530;AF031832;AMYH01014420;BC062476;BC066227;BC066228;BC067419;BC067420;BC067421;BC067422;BC074771;BC074786;CB114902;CH471057;D11067;DQ088981;M12272;M32658;NG_011718;NM_000669;X04299;X04350 AAA52278;AAC05739;AAC41757;AAH62476;AAH66227;AAH66228;AAH67419;AAH67420;AAH67421;AAH67422;AAH74771;AAH74786;AAY68222;BAC06856;CAA27842;CAA27876;EAX06099;EAX06100;NP_000660;P00326 Hs.654537 1657121;1740881;1740883;2165776;5112009;5119905;5125319 D4S460;G44346;GDB:170160;GDB:170161;GDB:187387;SHGC-35417;SHGC-59546 ADH3 ADH, gamma subunit;OTTHUMP00000220209;alcohol dehydrogenase 1C;alcohol dehydrogenase 3 (class I), gamma polypeptide;alcohol dehydrogenase subunit gamma;aldehyde reductase APPROVED protein-coding ENSG00000248144 251 00066 103730;103780;168600 REVIEWED 735489 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008] 4 4 q22 100263855 100284472 - 100044832 100065449 - 1300048;1580863;6480464;6907045 10407146;15369820;3466164;16787387;19343046;19193628;19182438;18996923;18801187;18331377;17069770;16237392;16220108;15863808;15489334;14745297;12631290;12477932;11997393;11964133;11916005;11900616;11752456;11279029;11009184;9570155;8032153;3036213;1889753;1362387;21480392;19687126;19861527;19874574;19898482;19925625;20363298;20453000;18029348;20800603;20626721;20634891;17207965;20462248;21184752;21832049;22044940;22232963;21635275;22147505;21988832;22960999;23456092 127 D6R9K8;D6RF43;D6RIB1;H0Y9N0;P08319 ABBA01063672;AC019131;AK290835;AK295556;AK313649;AMYH01014420;AP002026;AV659364;AY974245;BC022319;CH471057;M15943;NM_000670;X56411;X56419 AAA51595;AAH22319;AAX59034;ADQ32176;BAF83524;BAG58459;CAA39813;EAX06088;EAX06089;NP_000661;P08319 Hs.1219 1771315;2149576 SHGC-35298;STS-X56411 ADH-2 OTTHUMP00000219911;OTTHUMP00000219912;OTTHUMP00000220033;alcohol dehydrogenase 4;alcohol dehydrogenase class II pi chain;aldehyde reductase APPROVED protein-coding ENSG00000198099 252 00068 103740 REVIEWED 1314863 ADH6 alcohol dehydrogenase 6 (class V) This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q23 100342818 100359426 - 100123795 100140403 - 1580863;6480464;6907045 1755855;1593644;19343046;17185388;16685648;14702039;12477932;12050823;11095947;10975466;7695785;2198032;1881901;19698717;19874574;20819778;23534349;21988832;23456092 130 B7ZAL1;D6RDN5;D6RH17;E9PBI1;H0Y8U2;P28332;Q8IUN7 ABBA01063672;ABBA01063673;AJ278908;AK092768;AK298290;AK316326;AMYH01014420;AP002026;AY962311;BC039065;CH471057;M84402;M84409;NM_000672;NM_001102470 AAA35509;AAH39065;AAX44051;BAG52607;BAG60550;BAH14697;CAC10399;EAX06090;EAX06091;NP_000663;NP_001095940;P28332 Hs.586161 1671970;1773450 G33392;SHGC-12728 ADH-5 OTTHUMP00000161647;OTTHUMP00000161648;OTTHUMP00000161649;OTTHUMP00000220107;alcohol dehydrogenase 6;aldehyde reductase APPROVED protein-coding ENSG00000172955 255 00067 103735 REVIEWED 1318880 ADHFE1 alcohol dehydrogenase, iron containing, 1 The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008] 8 8 8 q13.1 63336419 63372728 + 67507272 67543598 + 67344718 67381044 + 1580863;6480464 16712791;16435184;19013439;16616524;15221005;14702039;12592711;12477932;20877624 137872 B4DFI7;B4DV11;E5RFL4;F2Z2N0;F2Z3D8;F2Z3E5;Q8IWW8 AB075879;ABBA01041871;AC009879;AK056992;AK293530;AK294114;AK300243;AK300881;AMYH01018773;AY033237;BC047492;BC064634;BC110290;BE241883;BG698892;BQ182872;CB157325;CH471068;NM_144650 AAH64634;AAK44223;BAB71335;BAD38661;BAG57012;BAG57448;BAG62010;BAG62523;EAW86901;EAW86902;EAW86903;EAW86904;EAW86905;EAW86906;EAW86907;NP_653251;Q8IWW8 Hs.720023 2140168;2161837;2185235;2216994 ADHFE1_3092;G27361;RH65944;SHGC-34586 ADH8;FLJ32430;HMFT2263;HOT;MGC48605 Fe-containing alcohol dehydrogenase 1;OTTHUMP00000196631;OTTHUMP00000196632;OTTHUMP00000211260;alcohol dehydrogenase 8;alcohol dehydrogenase iron-containing protein 1;hydroxyacid-oxoacid transhydrogenase, mitochondrial APPROVED protein-coding ENSG00000147576 16354 12428 611083 VALIDATED 737541 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q23-q24 100552441 100575548 - 100333418 100356667 - 1580863;6480464;6907045 7876099;9600267;9228021;11997393;19343046;19193628;18500343;18331377;18231859;17921519;17918242;17486761;17185388;16685648;16180008;15456134;14502680;8824810;8195208;8125298;8082805;8074657;7925371;7876191;7771649;1592118;23568457;21145461;10631979;12477932;15028279;16344560;19609347;19687126;19861527;19874574;19898482;20158305;20336794;8889548;20700531;20800603;10969996;11410738;21437268;23314748;18029348;23149980;23456092 131 C9JP14;E9PFG0;P40394 ABBA01063673;AK223472;AK301657;AK301696;AK310811;AK312854;AMYH01014420;AP001960;BC131512;BX476080;CA311897;CD014081;CD697521;CH471057;DB204496;DB350054;L33179;L47166;NM_000673;NM_001166504;S77168;U07821;U09623;U16286;U16293;X76342 AAA19002;AAA59211;AAA82165;AAB34478;AAB38424;AAC51351;AAI31513;BAG35707;BAG63133;BAG63168;CAA53960;CAA53961;EAX06101;NP_000664;NP_001159976;P40394 Hs.389 1690484;1765939;1777608;1858674 SHGC-12015;SHGC-149343;SHGC-67814;STS1AA ADH-4;ADH4 OTTHUMP00000214819;OTTHUMP00000214820;OTTHUMP00000214821;alcohol dehydrogenase VII;alcohol dehydrogenase class 4 mu/sigma chain;alcohol dehydrogenase class IV mu/sigma chain;alcohol dehydrogenase-7;class IV sigma-1 alcohol dehydrogenase;class IV sigmasigma alcohol dehydrogenase;gastric alcohol dehydrogenase;retinol dehydrogenase APPROVED protein-coding ENSG00000196344 256 02515 600086 REVIEWED 1351578 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008] 4 4 q23 100211152 100228954 - 99992129 100009931 - 1580863;5128886;5128891;5128882;5128890;5129088;5129091;5128892;6480464;6907045 20431245;19395503;17543375;19514054;19806079;8462548;15919956 8460164;6375718;19165527;18996923;18636124;18331377;18095160;17185388;16685648;15489334;14608084;12484756;12477932;12196016;12141816;12004059;10978156;10661511;9018047;8503936;8494891;7948423;6424546;3365377;2936344;2934732;2818582;2679557;1453005;1446828;16169070;19596685;19874574;19898482;20158305;20335826;20371487;20308539;20634891;20677014;20819778;21832049;21920416;21139048;21890473;21906983;23285246;23752268;22335564;15123239;21963094;21988832;23000965;23251661;23355119;22505724;23456092 128 D6R9G2;D6RAY0;D6RD54;D6RFE4;H0YAG8;P11766;Q6IRT1 ABBA01063669;AC019131;AK129570;AK226177;AK312367;AMYH01014419;AY987960;BC014665;BC070491;BQ881561;BT019832;BT019833;CH471057;CR536491;CR541689;M29872;M30471;M81112;M81118;NM_000671 AAA51596;AAA51597;AAA79018;AAH14665;AAH70491;AAV38635;AAV38636;AAX81412;BAG35285;CAG38730;CAG46490;EAX06084;EAX06085;EAX06086;NP_000662;P11766 Hs.78989 1795322;1858368;2132047;2183555 ADH5_690;SHGC-67905;WI-14387;WI-18933 ADH-3;ADHX;FALDH;FDH;GSH-FDH;GSNOR FALDH;GSH-FDH;OTTHUMP00000219913;S-(hydroxymethyl)glutathione dehydrogenase;alcohol dehydrogenase (class III), chi polypeptide;alcohol dehydrogenase class chi chain;alcohol dehydrogenase class-3;alcohol dehydrogenase class-III;formaldehyde dehydrogenase;glutathione-dependent formaldehyde dehydrogenase APPROVED protein-coding ENSG00000197894 253 00064 103710 REVIEWED 1606699 ADIG adipogenin ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008] 20 20 20 q11.23 33920630 33927890 + 36643252 36650518 + 37209838 37217104 + 6480464 15567149;16132694;12477932 149685 A2A2E7;F5GXV4;H0Y829;Q0VDE8 AA974242;ABBA01052526;AL035419;AMYH01011906;BC029594;BC119704;BC119705;BX105371;CH471077;HC044655;NM_001018082 AAH29594;AAI19705;AAI19706;ABM82428;ABM85620;CBH30657;EAW76017;NP_001018092;Q0VDE8 Hs.368028 2169420 AL030966 KIAA1219;MGC149650;MGC39724;RP5-1100H13.2;SMAF1 OTTHUMP00000030970;adipogenesis associated;adipogenin;small adipocyte factor 1 (SMAF1) APPROVED protein-coding ENSG00000182035 28606 18068 611396 VALIDATED 7205113 ADIPOR1P1 adiponectin receptor 1 pseudogene 1 10 p12.31 22453505 22454353 + 645220 ABBA01034483;AL157831;AMYH01002179;NG_022165 pseudo 44910 INFERRED 7205280 ADIPOR1P2 adiponectin receptor 1 pseudogene 2 14 q32.13 95100009 95100862 + 390503 ABBA01030412;AL049839;AMYH01005970;NG_022863 pseudo 44911 INFERRED 7241120 ADIRF-AS1 ADIRF antisense RNA 1 100133190 ABBA01033689;AC025268;AK128041;AL136982;AL157440;AMYH01002903;BC017676;XR_110430;XR_111094;XR_171863 Hs.714477;Hs.739872 1681195;1731939;1778252;2184780;5015961 D10S608;D15S1477;RH44865;RH68273;RH93785 miscrna 45127 MODEL 6481304 ADIPOQ-AS1 ADIPOQ antisense RNA 1 3 186569675 186573912 - 12477932;19165155;20018283 100874095 ABBA01058379;AC072018;AMYH01013737;BC036509;NR_046662 Hs.638968;Hs.80485 1770624;5015861;5037552;7185938 D10S16;D8S2279;G29832 APPROVED miscrna ENSG00000226482 40648 PREDICTED 1348184 ADIRF adipogenesis regulatory factor APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008] 10 10 10 q23.2 82731188 82733667 + 88718168 88720646 + 88728188 88730666 + 737633;6480464 12477932 15489334;19444912;19204726;8619847;16341674;15851553;23239344;21900206;21906983;23467766 10974 Q15847;Q5TBU2;Q5TBU5 ABBA01033689;AI401530;AK312031;AL136982;AMYH01002903;BC004471;BM789611;BM850559;CD722742;CH471142;D45370;NM_006829 AAH04471;BAA08226;BAG34968;EAW80313;NP_006820;Q15847 Hs.642660;Hs.714477 1681195;1731939;1778252;2184780 D10S608;RH44865;RH68273;RH93785 AFRO;APM2;C10orf116;RP11-96C23.4;apM-2 OTTHUMP00000020019;adipogenesis factor rich in obesity;adipose most abundant gene transcript 2 protein;adipose specific 2 APPROVED protein-coding 24043 16575 VALIDATED 1351472 ADIPOQ adiponectin, C1Q and collagen domain containing This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010] 3 3 q27 188043157 188058946 + 186560463 186576252 + 1599133;1599139;1599144;1599145;1599146;1599149;1599150;1642458;1642395;2313239;2313230;2313236;2313234;2313238;2313235;5686359;5686385;5686388;5686726;5686807;5686812;5686800;5686674;5686351;5686380;5686719;5686822;5686857;5686818;5686660;5686837;5686406;5686819;5686853;5686880;5686887;5685385;5686407;5686408;5686428;5686889;5686895;5686827;5686409;5686754;5686813;5686750;5686885;5686894;5686355;5686424;5686752;5686881;5686891;5686893;5686716;5686833;5686751;5686830;5686856;5686820;5686806;5686814;5686835;5686838;5686381;5686851;5685373;5686377;5686379;5686405;5686802;5686804;5686821;5686825;5686809;5686810;5686883;5686898;5686841;6480464;6907045 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9370 A8K660;B2R773;Q15848 AB012165;ABBA01058379;ABBA01058380;AC072018;AC112907;AJ131459;AJ131460;AJ131461;AJ131462;AJ131463;AK291525;AK312868;AL832470;AMYH01013737;AX767959;BC054496;BC096308;BC096309;BC096310;BC096311;CH471052;D45371;EU420013;GM710009;HC474937;NG_021140;NM_001177800;NM_004797 AAH54496;AAH96308;AAH96309;AAH96310;AAH96311;ABZ10942;BAA08227;BAA86716;BAF84214;BAG35720;CAB52413;CAE01099;CAT82843;CBL63519;EAW78165;NP_001171271;NP_004788;Q15848 Hs.80485 1770624;2149043;5016478;5016596;5020881;5020946;5037552 D8S2279;G29832;GDB:313513;GDB:434012;GDB:631802;L17709;L17971 ACDC;ACRP30;ADIPQTL1;ADPN;APM-1;APM1;GBP28;adiponectin 30 kDa adipocyte complement-related protein;OTTHUMP00000210047;OTTHUMP00000210048;adipocyte complement-related 30 kDa protein;adiponectin;adipose most abundant gene transcript 1 protein;adipose specific collagen-like factor;gelatin-binding protein 28 1643508;2289633 BW262_H;BW506_H APPROVED protein-coding ENSG00000181092 13633 05671 605441;612556 REVIEWED 1602478 ADI1 acireductone dioxygenase 1 This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. [provided by RefSeq, May 2010] 2 2 2 p25.3 3555166 3576801 - 3480698 3502306 - 3501690 3523350 - 6480464;6907045 15938715;14718544;11602742;17786183;17212658;15815621;15489334;15221005;14702039;12477932;8125298;17353931;16344560;19626614;20379614;17207965;16712791;21832049;18029348;21139048;21963094;22505724 55256 H7C382;Q96P85 AB073609;AB158319;ABBA01013723;AC114810;AC142528;AC231981;AF087863;AF403478;AK001775;AK127473;AK222467;AK225278;AMYH01010069;BC001467;CB129674;CH471053;DA559726;FB342953;FB711076;NM_018269 AAH01467;AAL25800;AAP97173;AAX82038;AAY24022;ADQ33221;BAA91901;BAC86996;BAD10866;BAD38646;BAD96187;CAR81477;CAS91493;EAX01064;EAX01065;NP_060739;Q9BV57 Hs.502773 1694566;2118297;5022651;5037552 D11S2921;D8S2279;G43260;RH12407 APL1;ARD;FLJ10913;Fe-ARD;HMFT1638;MTCBP-1;MTCBP1;Ni-ARD;SIPL;mtnD 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase;MT1-MMP cytoplasmic tail-binding protein-1;OTTHUMP00000140252;OTTHUMP00000216451;acireductone dioxygenase (Fe(2+)-requiring);acireductone dioxygenase (Ni(2+)-requiring);membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1;submergence induced protein 2;submergence-induced protein-like factor APPROVED protein-coding ENSG00000182551 30576 17607 613400 REVIEWED 737582 ADK adenosine kinase This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 10 10 q22 75580971 76139066 + 75910943 76469061 + 1300259;1580863;1300048;2313341;2313360;6480464;6482670;6482662;6482663;6482668;6482666;6482652;6482655;6482302;6482667;6482664;6482646;6482650;6482657;6907045 11997462;16827901;12729803;8207212;11423084;11160636;9435554;9932716;21427729;17457365;21635241;9731623;11123368;22521820;21964979;16685255 9070863;18309031;15489334;12820662;12477932;12112843;11242543;10215863;9843365;8917457;8577746;185014;16385451;18600536;18600545;19635462;20392501;16712791;20698827;19913121;16344560;20881134;20379614;21139048;21906983;22092111;21931568;21988832 132 P55263;Q5JQ10 ABBA01020278;ABBA01020279;ABBA01020280;ABBA01020281;ABBA01020282;ABBA01020283;ABBA01020284;ABBA01020285;ABBA01020286;ABBA01020287;ABBA01020288;ABBA01020289;ABBA01020290;ABBA01020291;ABBA01020292;ABBA01020293;ABBA01020294;ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF283990;AI188809;AI608983;AK290633;AK301590;AK302706;AL357037;AL731576;AMYH01002834;AMYH01002835;BC003568;BJ989861;BM472149;BT006788;CB133126;CH471083;DA356691;NG_030484;NM_001123;NM_001202449;NM_001202450;NM_006721;U33936;U50196;U90338;U90339 AAA97893;AAB01689;AAB50234;AAB50235;AAG13958;AAH03568;AAP35434;ABM92241;ABW03284;BAF83322;BAH13519;BAH13786;EAW54555;EAW54556;NP_001114;NP_001189378;NP_001189379;NP_006712;P55263 Hs.656586 1341235;1649914;1650704;1661302;1671654;1674184;1763887;1767403;1773045;1781942;1854003;2115287;2141761;2156830;2163449;2169167;2174225;2174227;5093826;7186760 A001U01;A009X23;D10S2150;D10S2218;D10S535;G19645;G32946;IB2229;RH1569;RH46197;RH66362;RH70656;SHGC-132142;SHGC-147556;SHGC-32599;SHGC-34979;STS-AA010164;STS-U50196;WI-11741 AK OTTHUMP00000019864;OTTHUMP00000019865;adenosine 5'-phosphotransferase;adenosine kinase APPROVED protein-coding ENSG00000156110 257 00039 102750;614300 REVIEWED 1348112 ADM2 adrenomedullin 2 This gene encodes a protein which is a member of the calcitonin-related hormones. The encoded protein is involved in maintaining homeostasis in many tissues, acting via CRLR/RAMP receptor (calcitonin receptor-like receptor/receptor activity-modifying protein) complexes. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 22 22 q13.33 49266878 49271732 + 50919985 50924866 + 1303968;6480464 14706825 19255504;18829738;18460550;17965749;17346853;17008878;16359754;15461802;14702039;14615790;14615490;12477932;10591208;18577758;18240029;19535789;19592612;19684198;19910445;12036966;20596793;21658025;21671901;21816853;21832999;21839130;8125298;21816966;22922959;22009752;23337723 79924 Q6IC89;Q7Z4H4 AB121034;AB236970;ABBA01042630;AF529213;AK024788;AK090635;AK092640;AK225097;AL096767;AMYH01012911;BC012864;BM910446;BX400262;CH471138;CR456479;NM_001253845;NM_024866 AAI41535;AAI46570;AAQ09100;BAB15004;BAD07411;BAE46395;CAG30365;CAK54460;CAK54759;EAW73541;NP_001240774;NP_079142;Q7Z4H4 Hs.449099;Hs.743540 5015861;5020948;5091792;7185938 D10S16;G35510;RH48341 AM2;FLJ21135;dJ579N16.4 OTTHUMP00000196595;OTTHUMP00000196596;intermedin APPROVED protein-coding ENSG00000128165 28898 10563 608682 VALIDATED 1344545 ADIPOR1 adiponectin receptor 1 This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. [provided by RefSeq, Jan 2012] 1 1 q32.1 201176576 201194034 - 202909960 202927700 - 1331376;1625761;1625762;1625763;1625764;1625765;1580863;1642395;6480464 12802337;17391161;17285539;16483885;16415076;16326833;16823476 18988888;22082804;19453261;19233263;19208777;19144434;19120283;19109202;19037660;19010305;18996753;18996102;22842631;22387454;23255609;18982021;18854016;18842004;18827209;18719649;18713296;18660489;18622492;18548168;18466348;18451143;18313838;18310295;18294218;18163210;18097620;17911635;17878241;17716299;17712104;17697862;17459059;17426101;17416799;17216283;17209173;17123704;17118803;17054465;17006986;17003341;17001470;16955209;16899222;16793963;16724230;16700915;16678125;16622416;16609881;16601138;16505255;16443913;16205883;16139921;16044242;16043761;16023994;15983228;15918014;15757860;15489334;15454091;15331527;15277397;15105989;14702039;14651988;12477932;10810093;8125298;21284833;21351255;21321996;20125105;20875820;17207965;20712903;20938443;20952631;20470935;20696134;19913121;20628086;20682687;20697428;18599322;18923878;19051043;19196212;19524379;19536175;19549705;19631916;19671624;19672024;19723917;19727342;19887569;19909601;19948975;20032495;20059631;20071013;20074551;20120899;20129487;20332107;20432444;20336470;21195057;19487733;21289205;21331343;23358237;23762377;22495003;21761356;21397927;21538348;21749709;21632074;21900123;22227293;22340319;21890473;22050309;19322201;21750988;22049178;21150319;21963094;21988832;23351195;23358721;23386639;22106445;22265003;22087284;21273992;22078265;21980131;22186245;21960694;22633650;22534793;22767440 51094 C9J0W7;C9JNM5;F8W782;Q96A54 ABBA01027489;ABBA01027490;AC096632;AF125179;AF151803;AK001484;AK058114;AK124455;AK222503;AMYH01001652;AY424279;BC001594;BC010743;BX461217;CH471067;HC299099;HD061930;NM_015999;NR_046083 AAD34040;AAH01594;AAH10743;AAQ13552;AAR08367;ADQ32734;BAD96223;BAG50922;CBJ06650;CBS99526;EAW91449;EAW91450;NP_057083;Q96A54 Hs.713729 1850431;1850433;2129212;2135317;2149629 A006H25;G20811;RH16184;SHGC-34701;WI-18541 ACDCR1;CGI-45;CGI45;FLJ25385;FLJ42464;PAQR1;TESBP1A OTTHUMP00000038805;OTTHUMP00000038806;adiponectin receptor protein 1;progestin and adipoQ receptor family member I APPROVED protein-coding ENSG00000159346 24040 06402 607945 VALIDATED 1317349 ADIPOR2 adiponectin receptor 2 The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008] 12 12 p13.31 1670508 1768106 + 1800247 1897845 + 1331376;1625763;1625764;1625765;1642395;2312480;2312486;2312478;2312488;2312495;2312476;2312490;6480464 12802337;16483885;16415076;16326833;16823476;18548168;18363889;19220660;18222103;17884446;19631916;18075289 20470935;21943112;22082804;22819899;22187345;19453261;19208777;19120283;19037660;18996753;18996102;18988888;18931038;18923878;18842004;18719649;18713296;18660489;18466348;18310295;18294218;17716299;17697862;17459059;17426101;17416799;17216283;17209173;17123704;17118803;17054465;17006986;17001470;16955209;16899222;16724230;16700915;16678125;16609881;16601138;16505255;16205883;16139921;16044242;15983228;15918014;15757860;15489334;15454091;15331527;15105989;14702039;14651988;12477932;8889548;21632074;19913121;20602615;20628086;20682687;21284833;21351255;19051043;19502591;19549705;19662435;19671624;19723917;19887569;19909601;20032495;20120899;20178558;20308432;20379614;20423458;17207965;20712903;20875820;20336470;20125105;19487733;21331343;23255609;16622416;22265003;21538348;22379998;21963094;23358721;23386639;22227293;22479352;21273992;21980131;21960694;22633650;22534793 79602 Q86V24 ABBA01048817;ABBA01048818;ABBA01048819;AC005183;AC005343;AK025085;AK127196;AK128511;AMYH01004176;AY424280;BC004906;BC051858;BM973815;CH471116;HD061932;NM_024551 AAH51858;AAR08368;ADQ33094;BAB15062;BAC86881;BAC87473;CBS99527;EAW88924;NP_078827;Q86V24 Hs.371642 1341039;1665574;1665576;1693858;1707672;1709784;1709926;1709994;2156405;5492094 A006B15;Adipor2;D12S1656;G20673;G42618;RH66215;SHGC-82005;SHGC-82266;SHGC-84708;SHGC-84820 ACDCR2;FLJ21432;MGC4640;PAQR2 OTTHUMP00000160634;adiponectin receptor protein 2;progestin and adipoQ receptor family member II APPROVED protein-coding ENSG00000006831 24041 06403 607946 VALIDATED 3499499 ADM5 adrenomedullin 5 (putative) 19 19 19 q13.33 47061274 47063579 + 54883754 54886059 + 50191942 50194247 + 6480464 18434369;12477932 199800 C9JUS6 ABBA01032913;AC011495;AI937838;AL359598;AMYH01009917;BC022233;BC032764;BC112359;CH471177;NM_001101340 ACE86851;ACE87538;C9JUS6;EAW52522;NP_001094810 Hs.311193;Hs.607562 1676982;1685514;2118737;2119391;5493459 RH68301;RH91103;RH91411;STS-N90422;UniSTS:486532 AM5;C19orf76 adrenomedullin 5 homolog (pig);putative adrenomedullin-5-like protein APPROVED protein-coding 27293 VALIDATED 730917 ADM adrenomedullin Adrenomedullin, a hypotensive peptide found in human pheochromocytoma, consists of 52 amino acids, has 1 intramolecular disulfide bond, and shows a slight homology with the calcitonin gene-related peptide. It may function as a hormone in circulation control because it is found in blood in a considerable concentration. The precursor, called preproadrenomedullin, is 185 amino acids long. By RNA-blot analysis, human adrenomedullin mRNA was found to be highly expressed in several tissues. Genomic ADM DNA consists of 4 exons and 3 introns, with the 5-prime flanking region containing TATA, CAAT, and GC boxes. There are also multiple binding sites for activator protein-2 and a cAMP-regulated enhancer element. [provided by RefSeq, Jul 2008] 11 11 p15.4 10283218 10285499 + 10326642 10328923 + 1625294;1625307;1625319;1625297;1625316;704370;1625296;1625299;1625300;1625301;1625302;1625303;1625304;1625305;1625310;1625312;1625318;1625333;1625298;1625317;1580863;2313312;2313313;2313311;2325317;2325318;2325319;1642599;2325637;2325320;6480464;6484113 17355819;17335899;16713642;16793965;17043245;12623952;16955796;16524566;16450076;15789277;15350700;15284680;15086360;14718403;17318497;17255858;16715121;16728681;16625237;16735801;19216096;17557032;19424162;17363587;16841081;11331218;17766482;18945953;20431304 22178239;21350119;12753312;12720100;12716843;12687457;12684703;12667630;12660258;12646214;12643861;12630824;12630823;12630817;12601625;12579522;12566732;12565880;12534591;12529288;12484513;12477932;12383875;12376296;12375542;12324915;12220731;12193565;12189226;12137974;11972292;11956648;11921363;11921362;11905404;11879669;11774814;11744163;11712085;11571480;11562782;11511315;11502838;11463752;11463574;11387328;11150646;11116141;10956553;10899511;10867102;10855685;10588445;9916958;9768331;12782295;12763641;9620797;9578982;9535752;9357065;9145435;8885746;8774254;8742029;8687431;8387282;8137955;8076689;7745031;7688224;8074714;10822232;11410113;8524787;12379507;19346663;19323987;19306911;19253104;19247278;19210874;19166930;19126117;19010904;19009024;18929609;18708640;18705285;18692535;18657357;18615773;18463805;18403050;18401334;18371176;18081029;18080871;18000597;17952853;17941085;17922433;17766467;17719138;17584073;17388661;17384335;17327422;17307261;17290391;17053041;17022943;16963041;16854513;16821090;16815566;16797107;16622024;16609682;16596251;16517613;16416151;16356592;16322067;16256216;16221100;16154664;16115629;16097366;15976103;15974887;15917349;15908101;15902095;15866060;15788445;15761041;15758554;15711093;15702240;15684700;15677761;15665526;15544858;15531734;15527794;15489334;15361766;15336545;15300632;15242974;15194870;15192039;15044509;15016771;14759562;14725946;14720432;14715486;14714580;14671210;14612905;14534081;14517225;12969589;12920627;12907107;12903912;12853384;12835224;12805025;22818355;21050876;20016189;20216319;18240029;19212702;19564455;19610056;19616043;19623513;19627536;19636336;19706311;19823891;19847298;19932100;20151808;19738161;20954838;21075100;19913121;20628086;20713499;20467777;12036966;20534761;20798523;21094578;16270874;20691218;20942979;22971508;23356193;23002189;22608560;21408188;21558971;21695352;22087514;21798961;21558311;21957602;10882736;16964401;21721459;20854881;21994414;22070520;21458987;21839130;22628306;21830197;20686565;21909110;21909115;22102369;22400488;22406979;22880472;22456622;22881718;22885414;23269582;15613468;22960655;22932875;23450059;22859951;23381795;21791966;22801438;21889828;21725669 133 E9PL83;E9PML4;E9PQE6;E9PQT2;P35318 ABBA01061160;AC080023;AK312893;AMYH01003389;BC015961;BT006902;CH471064;CR541995;D14874;D43639;DQ143945;HI574294;NM_001124;S73906 AAC60642;AAH15961;AAP35548;AAZ38717;BAA03589;BAA07756;BAG35740;CAG46792;CBX47636;EAW68571;EAW68572;NP_001115;P35318 Hs.441047 1773331;2153877;5020958 ADM-1;RH17382;WI-9301 AM OTTHUMP00000231484;OTTHUMP00000231488;OTTHUMP00000231489;OTTHUMP00000231490;preproadrenomedullin APPROVED protein-coding 259 00061 103275 REVIEWED 1344356 ADORA2BP1 adenosine A2b receptor pseudogene 1 1 1 1 q32 183148612 183149913 + 207984087 207986065 + 209917720 209919021 + 7558011 137 ABBA01048215;AL022398;AMYH01001696;NG_000843 ADORA2BP APPROVED pseudo 265 INFERRED 737453 ADNP activity-dependent neuroprotector homeobox Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 46211143 46251787 - 48940290 48980934 - 49506883 49547527 - 1580863;2312784;2312792;2312791;2312794;2312793;2312783;1358226;2312775;6480464 11123362;17720885;18199809;10037502;15886480;18414890;11935065;16938277 17474147;18029348;17878164;17345061;17081983;15489334;12477932;11780052;11013255;9872452;20598862;19923857;20562864;21647709;22939629;21888893;22586326;21900206;19471022;21139048;21890473;21252943;22554909 23394 E9PQK8;Q9H2P0 AB018327;ABBA01052790;AF250860;AK074926;AK314734;AL034553;AL080163;AMYH01011976;AMYH01011977;BC015554;BC075794;BC090933;CH471077;NM_015339;NM_181442 AAG47651;AAH75794;AAH90933;BAA34504;BAG37275;CAB45752;EAW75611;EAW75612;NP_056154;NP_852107;Q9H2P0 Hs.570355 1663998;1735976;1738987;1767687;1774387;1775806;2124184;2142306;2144855;2155591;2158896;2162067;2169094;2218190 ADNP__4259;D1S1984E;D20S560E;D20S689;D20S772;D20S953;RH11804;RH18366;RH68738;RH69297;SHGC-36586;SHGC-52475;SHGC-57240;Z94544 ADNP1;KIAA0784 ADNP homeobox 1;OTTHUMP00000031275;OTTHUMP00000031276;OTTHUMP00000165329;OTTHUMP00000229415;activity-dependent neuroprotective protein;activity-dependent neuroprotector homeobox protein APPROVED protein-coding ENSG00000101126 15766 09793 611386 REVIEWED 1605090 ADNP2 ADNP homeobox 2 18 18 18 q23 74639542 74670861 + 75967903 75999220 + 77866915 77898229 + 6480464 18029348;15489334;14702039;12477932;10048485;20598862;20936779;21888893;21139048;21906983;19322201 22850 H0YLN6;H0YM09;K7EPG1;K7ERT3;Q6IQ32 AB020670;ABBA01013903;ABBA01013904;AC090360;AC139100;AK022688;AK023032;AK292566;AMYH01009137;BC071589;CH471117;NM_014913 AAH71589;ABZ92222;BAA74886;BAB14180;BAF85255;EAW66646;EAW66647;NP_055728;Q6IQ32 Hs.131915 1739239;2125318 D17S1639;RH65773 KIAA0863;ZNF508 ADNP homeobox protein 2;zinc finger protein 508 protein-coding ENSG00000101544 23803 13822 VALIDATED 1317890 ADO 2-aminoethanethiol (cysteamine) dioxygenase Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008] 10 10 10 q21.3 57831785 57835508 + 64234522 64238245 + 64564516 64568239 + 6480464;6907045 17581819;15489334;14702039;12477932;20877624;21890473;22327514;22412388;22747683;23042114 84890 B3KXN9;Q96SZ5 ABBA01019491;AK027453;AK127694;AL049319;AL133417;AMYH01002774;BC018660;BC028589;BC067740;CH471083;NM_032804 AAH18660;AAH28589;AAH67740;BAB55123;BAG54551;EAW54235;EAW54236;EAW54237;NP_116193;Q96SZ5 Hs.99821 1646369;2117028;2175548 RH1566;SGC32008;SHGC-32854 C10orf22;DKFZp564C046;FLJ14547 2-aminoethanethiol dioxygenase;OTTHUMP00000019674;cysteamine (2-aminoethanethiol) dioxygenase (ADO);cysteamine dioxygenase APPROVED protein-coding ENSG00000181915 23506 12566 611392 VALIDATED 3129815 ADORA2A-AS1 ADORA2A antisense RNA 1 22 22 22 q11.23 8624901 8690519 - 23149939 23221042 - 24825178 24890783 - 12477932;14702039;16344560;19726446 646023 P86434 ABBA01055137;ABBA01055138;AK091970;AMYH01012666;AP000355;BC045098;CH471095;DA917327;DB449907;NR_028483;NR_028484 EAW59659;P86434 Hs.632761 1335844;1657586;2106949;2114034;2140335;2140775;2152485;2158034 ADORA2A;ADORA2A_7742;D22S1263;D22S156;D22S621;G18161;G27964;WI-18996 C22orf45;FLJ34651 APPROVED miscrna ENSG00000178803 37122 VALIDATED 730817 ADORA1 adenosine A1 receptor The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q32.1 201363459 201403156 + 203096836 203136533 + 1625225;1625243;1331525;1625367;1580863;1625229;1625369;1625366;1300260;2313803;2313805;2313804;2313807;2313808;4890386;5129094;5129099;5129095;5129093;5129103;5129097;5129098;4890369;4145444;5129096;5129100;6480464 17211253;15220221;15118671;15257174;17067559;16507638;8998253;11504952;19552053;16256246;19276628;11703426;11593763;20065990;21388992;18307414;20729330;2167912;17959644;15630442;17853654;20400685;18289533;18787037 7818494;8360491;8450977;1530647;19207864;19193874;19047957;19019667;19019012;18996102;18680557;18500760;18373090;18281812;18052973;17901362;17728764;17542617;17088462;16709961;16344560;16118787;15489334;15485865;14997566;14702039;12974671;12920396;12826838;12825092;12812995;12773115;12764156;12477932;12475223;12150791;11934694;11390975;11369591;11278325;10890919;10521440;10502296;10487528;10455026;9247966;9166747;8889548;8300646;7601478;2825071;2541503;1662665;1551861;1339301;22370739;20105183;18240029;19536175;19558453;19574994;19794965;19820430;19822392;19883624;19919976;20085598;20392501;20468064;20354569;20599769;18577758;19913121;20602615;20609566;20628086;16481441;16713569;21542986;21603615;21701065;21590734;21506953;21730968;22449383;22215671;22462821;21988832;23193172;22356216;22787201;22867902 134 P30542 AB004662;ABBA01027484;ABBA01027485;AC105940;AK095060;AK127752;AK289928;AK295584;AK308733;AMYH01001654;AY136746;BC026340;BT019854;BU740906;CH471067;CR541749;DA343445;DB171678;GM047589;L22214;NM_000674;NM_001048230;S45235;S56143;X68485 AAA17544;AAB23388;AAB25533;AAH26340;AAN01272;AAV38657;ABM83304;ABM83305;ABM84210;ABM86518;ABM87615;BAA20433;BAF82617;BAG54566;BAH12115;CAA48503;CAG46549;CAV33768;EAW91465;NP_000665;NP_001041695;P30542 Hs.77867 1744371;1775157;2168598 D1S1699;GDB:452605;SHGC-76157 RDC7 OTTHUMP00000039090;OTTHUMP00000039091;adenosine receptor A1 APPROVED protein-coding ENSG00000163485 262 00042 102775 REVIEWED 6769553 ADPGK-AS1 ADPGK antisense RNA 1 15 q24.1 73075176 73090540 + 23263486 100287559 ABBA01038721;AC009712;AK127877;AMYH01006770;AMYH01006771;NR_040107 Hs.562587 APPROVED miscrna ENSG00000260898 44144 VALIDATED 730999 ADORA2A adenosine A2a receptor This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] 22 22 q11.23 23153530 23168325 + 24823530 24838325 + 1331525;1625367;1580863;1300262;1300261;2313805;4890366;4890380;4890362;4890358;4890361;4890364;4890386;4890367;4890370;4890383;4890376;4890378;4890363;4890385;6480464;6484113 15118671;15257174;11780065;9262401;16256246;18310516;17293374;19766783;20798237;19909990;18703794;17937935;17617618;16484904;17601796;17559837;19487932;16339780 19386617;19287996;19262506;19159073;19156168;19086053;19019667;19019012;19013155;18996102;18772204;18759349;18629431;18541693;18539621;18524886;18508500;18442791;18434504;18305461;18246094;18218631;18215030;18197085;18057956;17872970;17616786;17599669;17591446;17558310;17512749;17474152;17329997;17257240;17132707;16969271;16917093;16824773;16818375;16361356;16344560;16280366;16184606;16118787;16027149;16022683;15987888;15774265;15734651;15719154;15704067;15539641;15489334;10899090;16805430;7818494;10051547;10945659;8360491;16939974;8794889;19591938;19565319;19525944;21593763;21658325;15461802;15461468;15351206;14715520;14702039;14666117;14525968;12933819;12856413;12837758;12825092;12804599;12784121;12634474;12477932;12429726;12406340;12237741;12080047;11934694;11717194;11532976;11515749;11140838;11125033;10974209;10951119;10391209;10326835;9369973;8670304;8522976;8135838;22012471;21950736;8088373;8020991;7775460;2541503;1835521;1662665;1426003;1331670;22740769;21606452;12189203;11571652;16339847;18240029;19303140;19508402;19538256;19541651;19632986;19776336;19794965;19801629;19883624;19902562;19948975;20021407;20029460;20085598;20089670;20197060;20334879;20392501;20396431;20468064;20512606;20520601;18331682;20413899;20666933;20045081;16481441;20691427;21088442;12036966;20354569;21258856;22333316;22798613;22240468;19913121;20371613;20628086;20799992;20842321;20926384;21040702;21256133;21480628;21501622;21393508;20386734;23071116;22146575;23005256;21646447;21550361;21486776;21542986;21590734;21885291;22367999;21633321;21638125;21062422;21062644;21840298;22079667;22170367;18486613;22403020;22130015;22213163;22217884;22585593;21281405;21966389;22249219;22336631;21739164;22033526;21335481;22462821;22940476;22923002;22963436;23478188;11734617;15146197;18832607;22238572;22705363;23093781;23168167;23171222;23332182;23377438;23429888;23483627;23489072;23500543;23514445;23535492;23535933;23583199;23593569;23663495;23678995;23193172;22356216;22844517;22754043;22119961;22792196 135 B3KVQ4;C9J0Z4;C9J3T2;C9JFS2;C9JQD8;P29274 ABBA01055137;AK123058;AK289871;AK301420;AK312946;AMYH01012666;AP000355;AY136747;BC013780;BG686029;BT006999;CA307692;CH471095;CN408252;CR456367;DA270141;DA687739;DA781734;DA942067;DA983859;EU036687;EU036688;EU036689;EU036690;EU036691;EU036692;EU036693;EU036694;HI574256;HY102778;HY249059;M97370;NM_000675;NM_001278497;NM_001278498;NM_001278499;NM_001278500;NR_103543;NR_103544;U40771 AAA58356;AAA83270;AAH13780;AAN01273;AAP35645;ABS89237;ABS89238;ABS89239;ABS89240;ABS89241;ABS89242;ABS89243;ABS89244;BAF82560;BAG35787;BAG53866;BAG62949;CAG30253;CAK54365;CAK54664;CBX47617;EAW59658;NP_000666;NP_001265426;NP_001265427;NP_001265428;NP_001265429;P29274 Hs.197029 2106949;2114034;2140335;2140775;2158034 ADORA2A;ADORA2A_7742;D22S1263;G27964;WI-18996 A2aR;ADORA2;RDC8;hA2aR OTTHUMP00000198454;OTTHUMP00000198455;adenosine A2 receptor;adenosine receptor A2a;adenosine receptor subtype A2a APPROVED protein-coding ENSG00000128271 263 00043 102776 REVIEWED 731019 ADORA2B adenosine A2b receptor This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 p12 15788956 15819935 + 15848231 15879210 + 1580863;6480464 7558011;10101031;8022409;7836474;19086053;19019667;18703227;18367727;18351132;18215420;18056839;18004767;17565009;17428235;17301835;17077301;16778150;16707627;16631311;16103269;15769552;15637124;15550390;15489334;15187156;12939345;12600879;12477932;12080047;11906291;11579381;11125033;11048721;9914161;7790006;1551861;1325798;18240029;18996102;19794965;19841638;19883624;19948975;20008542;20011598;20029460;20237496;20388705;21480628;20619442;22610502;19913121;20628086;12036966;20926384;21030693;21620804;21242513;21988832;22848385;21109603;21622827;21590734;23483055;22504483;22217884;21506953;21730968;21966389;21335481;22767505;23286920;22963436;23584256;23045479;22679008;22867902;22119961 136 P29275;Q2L7J7 ABBA01035665;AC006251;AMYH01008146;AY136748;BC025722;CH471222;DQ351340;M97759;NM_000676;X68487 AAA51598;AAH25722;AAN01274;ABC74564;ABM82640;ABM85817;CAA48505;EAX04484;EAX04485;NP_000667;P29275 Hs.167046 1655855;1706620;1745029;2114098;2183891 ADORA2B;D17S1679;GDB:593101;SHGC-82711;STS-X68487 ADORA2 OTTHUMP00000065212;adenosine receptor A2b APPROVED protein-coding ENSG00000170425 264 15971 600446 REVIEWED 1353885 ADPRTL4 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 22 22 22 q11.1 756842 780228 - 15514493 15538288 - 17134691 17158088 - 18701435;10591208;16461635;20218899;20496165;20574454 23783 AP000365;DN918251;DV080440;NG_002623;NR_040115 pseudo 274 VALIDATED 1353628 ADPGK ADP-dependent glucokinase ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008] 15 15 15 q24.1 49922511 49954930 - 70830763 70863114 - 73043708 73076126 - 737633;6480464;6907045 12477932 22219026;16713569;16344560;16303743;15489334;14975750;14702039;11230166;16169070;19309449;19903754;20379614;22939629;21963094;23263486 83440 H3BN66;H3BRS6;H3BTH4;H3BU35;H3BUC3;Q9BRR6 ABBA01038721;AC009712;AF204270;AK055526;AK075560;AK293282;AK294391;AL136873;AL832254;AMYH01006770;BC006112;BC018074;BC044589;BE018185;CH471082;CR533447;CS051413;DA031990;DA208247;DB279245;NM_031284;NR_023318;NR_023319 AAH06112;AAH18074;AAL31473;ACE86460;ACE87141;BAB70941;BAC11699;BAG56809;BAG57646;CAB66807;CAG38478;CAH10598;CAI72201;EAW77914;EAW77915;EAW77916;EAW77917;EAW77918;EAW77919;EAW77920;EAW77921;NP_112574;Q9BRR6 Hs.654636 1754349;1855412;2174871;2174873;2185439;5022578;5037552 A005M18;D15S838;D1S1423;D8S2279;G20332;SHGC-132374;SHGC-24194 2610017G09Rik;ADP-GK;DKFZp434B195 ADP-dependent glucokinase;ATP-dependent glucokinase;rbBP-35 APPROVED protein-coding ENSG00000159322 25250 12429 611861 VALIDATED 732427 ADPRH ADP-ribosylarginine hydrolase The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes, which require DTT for maximal activity, the human enzyme is DTT-independent. [provided by RefSeq, Jul 2008] 3 3 3 q13.31-q13.33 117707084 117717352 + 120781213 120791482 + 119298523 119308792 + 1580863;6480464 8349667;15546898;15489334;12477932;12070318;9193669;19407395;17207965;21044950 141 C9JZW7;P54922 ABBA01061581;ABBA01061582;AC073352;AK291787;AK304560;AK313369;AMYH01013419;BC020574;BC063883;BC074769;CH471052;L13291;NM_001125 AAA35555;AAH63883;AAH74769;ADQ31983;BAF84476;BAG36168;BAG65353;EAW79561;EAW79562;EAW79563;NP_001116;P54922 Hs.99884 1649583;2107817;2186587 ADPRH_8162;RH12819;STS-L13291 ARH1 ADP-ribose-L-arginine cleaving enzyme;ADP-ribosylarginine hydrolase;OTTHUMP00000215216;OTTHUMP00000215217;OTTHUMP00000215218;OTTHUMP00000215219;[Protein ADP-ribosylarginine] hydrolase APPROVED protein-coding ENSG00000144843 269 04359 603081 REVIEWED 1604325 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent 17 17 17 p13.1 10631781 10645729 + 10541652 10555600 + 10600927 10614875 + 6480464 18352857;16344560;12477932 56985 Q3LIE5 AB073393;ABBA01054979;AC002347;AF168715;AK292629;AMYH01008107;BC001294;BC070155;CH471108;DA280275;DA305828;NM_020233 AAF87317;AAH01294;AAH70155;BAE45723;BAF85318;EAW89995;EAW89996;NP_064618;Q3LIE5 Hs.47668;Hs.708369 1677766;1677816 RH94236;RH98491 C17orf48;MDS006;NBLA03831 ADP-ribose/CDP-alcohol pyrophosphatase;ADPRibase-Mn;CDP-choline phosphohydrolase;OTTHUMP00000160900;manganese-dependent ADP-ribose/CDP-alcohol diphosphatase APPROVED protein-coding 30925 17473 VALIDATED 735600 ADORA3 adenosine A3 receptor This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p13.2 111827493 111908120 - 112025970 112106597 - 1580863;1300263;6480464 10699369 19086053;19019667;18996102;18653544;18636149;18351132;17728764;17348028;17216675;17170310;16849509;16710414;16282197;16242072;15849244;15489334;15355922;15240539;15147729;14978250;14688204;12975309;12695530;12600879;12477932;12435805;12406340;12152652;11891221;11214319;11111832;9618527;9293494;8889548;8617363;8234299;7607699;19095736;9380026;9164961;9837869;8399349;19426966;15324660;21715680;18240029;19794965;19883624;20190146;20237496;20379614;2834384;19913121;20602615;20628086;20716228;18577758;20732875;22146575;21830157;21542986;21675873;22682496;22217884;22378888;21841534;23027555;18051367;22906537;23251661 140 H0Y6K0;H0Y7W7;P33765;Q5QNY8;Q6P2N6 ABBA01068397;ABBA01068398;AK313095;AL390195;AL391063;AMYH01000946;AY011231;AY136749;AY358644;BC029831;BC041707;BC064411;BM675096;CH471122;DB447202;GM047590;L20463;L22607;L77729;L77730;NG_032119;NM_000677;NM_001081976;NM_020683;S81868;X76981 AAA16365;AAA35949;AAB02790;AAD14378;AAG35155;AAH29831;AAH41707;AAH64411;AAN01275;AAQ89007;ABM83375;ABM86587;BAG35919;CAA54288;CAV33769;EAW56502;NP_000668;NP_001075445;NP_065734;P33765;Q6P2N6 Hs.281342 1651846;1745729;1795324;2140097;2190803 ADORA3;ADORA3_1557;GDB:632846;RH69986;SHGC-12531 A3AR;AD026;RP11-552M11.7;bA552M11.5 OTTHUMP00000013476;OTTHUMP00000013479;OTTHUMP00000013739;OTTHUMP00000082917;adenosine receptor A3 APPROVED protein-coding ENSG00000121933 268 08984;12424 600445 REVIEWED 1313790 ADPRHL1 ADP-ribosylhydrolase like 1 ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008] 13 13 13 q34 94904802 94935830 - 113124261 113155840 - 114076260 114107839 - 6480464 15489334;15057823;12477932;12070318;17207965 113622 Q8NDY3 ABBA01019869;AJ313429;AL160251;AMYH01005401;AMYH01005402;BC009755;CH471085;NM_138430;NM_199162 AAH09755;ADQ31850;CAC86114;EAX09208;EAX09209;NP_612439;NP_954631;Q8NDY3 Hs.98669 1675973 RH94126 ARH2 ADP-ribosyl-hydrolase;ADP-ribosylhydrolase 2;OTTHUMP00000018762;OTTHUMP00000018763;OTTHUMP00000018764;[Protein ADP-ribosylarginine] hydrolase-like protein 1 APPROVED protein-coding ENSG00000153531 21303 12431 610620 VALIDATED 734051 ADRA1D adrenoceptor alpha 1D Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008] 20 20 p13 4149278 4177659 - 4201278 4229659 - 1559318;1580863;5508374;6480464 11454900;15795180 10820200;10969806;1656955;10860850;7746284;19458937;19086053;18628404;18257748;18187928;17973108;17681068;17660397;17404580;17384146;16533813;15690361;15525470;15297446;14736874;14626446;12442007;12409310;11780052;8183249;8125015;8039425;8024574;7815325;1359975;22889411;12184796;18240029;16754659;19913121;20628086;19212140;21063774;21115837;15123239;23205498;19322201 146 B0ZBE0;P25100 ABBA01053850;ABBA01053851;ABBA01053852;AL121675;AL357040;AMYH01011683;AMYH01011684;CH471133;D29952;EU326302;L31772;NM_000678;S70782;U03864 AAB31163;AAB59487;AAB60351;ACA05908;BAA06222;EAX10455;NP_000669;P25100 Hs.557 1654387;2124266;7187388 RH64141;STS-M76446 ADRA1;ADRA1A;ADRA1R;ALPHA1;DAR;dJ779E11.2 OTTHUMP00000030160;adrenergic, alpha -1D-, receptor;adrenergic, alpha-1A-, receptor;adrenergic, alpha-1D-, receptor;alpha-1A adrenergic receptor;alpha-1D adrenergic receptor;alpha-1D adrenoceptor;alpha-1D adrenoreceptor;alpha-1D-adrenergic receptor;alpha-adrenergic receptor 1a APPROVED protein-coding ENSG00000171873 280 00079 104219 REVIEWED 736081 ADRA1A adrenoceptor alpha 1A Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008] 8 8 p21.2 26661584 26778839 - 26605667 26722922 - 1559318;1580863;1625780;1625770;1625775;5508374;5688364;6480464;5688366;5688369;5688371;5688368;5688377;5688340;5688352;5688374 11454900;12433595;16371063;17054657;15795180;21722710;20974230;19540213;16524515;20886573;10841349;19011682;16890732;114750 22091949;9490024;7737411;10860850;10671514;8396931;8183249;19352218;19322003;19105822;19102884;19095219;19086053;18996102;18821565;18523139;18413308;18351393;18331634;18257748;17973108;17972277;17681068;17655760;17556657;17408692;17075692;16823803;16690783;16685204;16645408;16633140;16536786;16153395;16043131;15946947;15917235;15824464;15626751;15525470;15474515;15297446;15179408;15136785;14626446;12782672;12707939;12544508;12519093;12477932;12409310;11425010;11154706;10587338;10493934;10334511;9359081;8832064;8564208;8024574;7815325;7805763;1970822;1363873;20129829;12184796;18240029;18524654;19444285;19476811;19520158;19565482;19730237;19763272;19874574;19918262;19919991;20004544;20044737;20173430;20379614;19913121;20628086;20705341;21063774;16754659;21223784;21519279;21262225;21738688;21571945;21982020;22089237;21792097;22037178;23460120;22952603 148 B0ZBD3;E7EW16;Q6RUJ8 AB065703;ABBA01005577;ABBA01005578;ABBA01005579;AC015564;AC022839;AC091675;AF013261;AF395806;AK289548;AMYH01018593;AY389505;AY491775;AY491776;AY491777;AY491778;AY491780;AY491781;BC095512;CH471080;D25235;D32201;D32202;EU326301;L31774;NG_029395;NM_000680;NM_033302;NM_033303;NM_033304;S76001;U02569;U03866;U08994 AAA18783;AAA93114;AAB59486;AAB60353;AAC06138;AAD14205;AAH95512;AAK77197;AAQ91331;AAR84644;AAR84645;AAR84646;AAR84647;AAR84649;AAR84650;ACA05899;ACA05901;ACA05903;ACA05905;BAA04960;BAA06900;BAA06901;BAC05926;BAF82237;EAW63569;EAW63570;EAW63571;EAW63572;NP_000671;NP_150645;NP_150646;NP_150647;P35348 Hs.709175 1664924;1665301;1672654;1767533;2131013;5015619;5022200;5022450;5037552 D10S275;D11S3114;D8S2033;D8S2279;L18426;RH45859;SGC35557;SGC35558;WI-17142 ADRA1C;ADRA1L1;ALPHA1AAR G protein coupled receptor;OTTHUMP00000125310;OTTHUMP00000125311;OTTHUMP00000125312;OTTHUMP00000125313;adrenergic receptor, alpha 1a;adrenergic, alpha -1A-, receptor;adrenergic, alpha-1A-, receptor variant 1;adrenergic, alpha-1A-, receptor variant 3;adrenergic, alpha-1A-, receptor variant 5;adrenergic, alpha-1A-, receptor variant 8;adrenergic, alpha-1C-, receptor;alpha-1A adrenergic receptor;alpha-1A adrenoceptor;alpha-1A adrenoreceptor;alpha-1C adrenergic receptor;alpha-adrenergic receptor 1c APPROVED protein-coding ENSG00000120907 277 00081 104221 REVIEWED 733119 ADRA1B adrenoceptor alpha 1B Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008] 5 5 q33.3 159276318 159332595 + 159343740 159400017 + 1559318;1580863;1625771;1625772;5508374;6480464 11454900;16095979;14581480;15795180 22019450;1328250;2154750;10820200;19334040;19086053;19058789;18523139;18336813;18257748;17973108;17681068;17365508;17220353;16645408;16352594;16297597;15824464;15690361;15525470;15297446;15220331;14736874;14626446;12695539;12644451;12409310;12023679;10652206;9481484;9353340;8617782;8183249;8024574;7815325;1706716;1662393;12184796;12477932;18240029;19910028;19919991;20379614;20468064;18577758;19913121;20628086;16754659;20538960;20816195;21063774;20857090;21224381;21223784;21298476;22723743 147 P35368 ABBA01044235;AC011343;AC068657;AC127458;AMYH01015758;BC136568;BC136569;BQ576306;CH471062;EU332831;L31773;M99589;M99590;NM_000679;U03865 AAB59485;AAB60352;AAI36569;AAI36570;ABY87520;EAW61572;NP_000670;P35368 Hs.368632 1755671;1792428;2127160;2152137 D5S2442;PMC150908P1;RH69212;SHGC-142517 ADRA1;ALPHA1BAR OTTHUMP00000160844;adrenergic, alpha-1B-, receptor;alpha-1B adrenergic receptor;alpha-1B adrenoceptor;alpha-1B adrenoreceptor;alpha-1B-adrenergic receptor APPROVED protein-coding 278 00080 104220 REVIEWED 731289 ADRB1 adrenoceptor beta 1 The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008] 10 10 q25.3 115793796 115796657 + 115803806 115806667 + 737773;1559319;737774;1331525;1580863;4145102;4140391;4140443;5129127;5129131;5129149;5129114;5129135;5129132;5129115;5129119;5129118;5129125;5129107;5129116;6480464;6893642;6893641;6893638;6893644;6907045;7240710;7241557;7241563;7241565;7241568;7241815;7241549;7241580 12161655;10577992;14502278;15118671;20948559;19110970;19127141;19060223;18306009;11527135;18275933;18287209;21054861;19587314;19785950;19283893;20203292;20451506;21491159;21831645;20959119;17143192;8181801;1648674;17278011;19745105;20398560;15592645 10212248;16316992;19576569;19378229;19301767;19094446;19086053;19073901;19056576;19036891;19033826;19010176;18996102;18947427;18937294;12815745;12724327;12709726;12643891;12544508;12529373;12519093;12455717;12422153;12391161;12374873;12270132;12244098;12197595;12140284;12106601;12090746;12069593;12032746;12029453;12023679;11942593;11854867;11753577;11700307;11526121;11447084;11337934;11140838;11052857;10995758;10862778;10794544;10535961;10477438;9843378;8892658;7583452;6305985;2825170;2536864;2465637;2154750;18936436;18797399;18794726;18776959;18773997;18772317;18754404;18702968;18702937;18679149;18625943;18622236;18615004;18596718;18540901;18534365;18479335;18452871;18429752;18413560;18413308;18403719;18346809;18331634;18323523;18311486;18308161;18298953;18253135;18239290;18219297;18209576;18193079;18158268;18155231;18075464;18059082;17998459;17919552;17893006;17845930;17680533;17667029;17644825;17635183;17591269;17585213;17541557;17512307;17496726;17463065;17383306;17345787;17339538;17335470;17334644;17329986;17270896;17223428;17217681;17118120;17023080;16997396;16946993;16940053;16914520;16907703;16844790;16815314;16785856;16765375;16760361;16728691;16648137;16534528;16500896;16487965;16485781;16421173;16402084;16325708;16315032;16287427;16227135;16210433;16189366;16187973;16153393;16122377;15917856;15864115;15861037;15833937;15824464;15735607;15719258;15685248;15564877;15542284;15479221;15464701;15388645;15358775;15342173;15331590;15312808;15237695;15212839;15212591;15086532;15079793;15055253;14990580;14734649;14553962;14534524;12921807;12851615;12847069;12844134;22378779;22340652;21464135;20129829;20414837;20587416;21516734;12184796;15452121;15932670;18240029;19037712;19477404;19509284;19515093;19538012;19542315;19553224;19578796;19621046;19623647;19628119;19673943;19743955;19779464;19842931;19845516;19883298;19956635;20023040;20044737;20079238;20116105;20144152;20185488;20235788;20300048;20352314;20374546;20384459;20459474;20468064;20470286;20537417;12036966;20426789;20643254;20443839;20123316;20581797;20602615;20625396;19913121;20628086;20693591;20705341;20731869;20803192;20821015;20538960;20831043;20952631;21034538;21044781;21059181;22703382;21238583;20726983;19167638;22815685;18787115;23261005;21305273;21573230;21553224;21422729;21375401;21626217;21527343;22299391;21599570;21311897;21878665;22994654;23114278;23060133;22192668;22306453;22617224;21909110;22253823;22388998;21847570;21807569;22447021;22495925;22723743;23275278;23318885;23115322;23223178;23533220;15123239;23202124;22742717;22811559;23257656 153 P08588 ABBA01062983;AF169006;AF169007;AF272890;AL355543;AMYH01003085;AY567837;CH471066;CS566006;EU332832;HI639505;J03019;NG_012187;NM_000684 AAA51667;AAD53696;AAD53697;AAI69224;AAI69225;AAI69226;AAS66983;ABY87521;CAN37601;CBX55891;EAW49485;NP_000675;P08588 Hs.99913 1742217;1775185;1775719;1790733;2113952;5493605 ADRB1;GDB:193846;RH68963;STS-U29690;UniSTS:256461;UniSTS:489671 ADRB1R;B1AR;BETA1AR;RHR OTTHUMP00000020519;adrenergic receptor, beta 1;adrenergic, beta-1-, receptor;beta-1 adrenergic receptor;beta-1 adrenoceptor;beta-1 adrenoreceptor APPROVED protein-coding ENSG00000043591 285 00181 109630;607276 REVIEWED 1319201 ADPRHL2 ADP-ribosylhydrolase like 2 This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009] 1 1 1 p34.3 34828871 34833951 + 36327073 36332120 + 36554453 36559533 + 6480464 17991898;22433848;17075046;17015823;16710414;16511307;16278211;15489334;14702039;12477932;12070318;8125298;16169070;18029348;21139048 54936 B7ZAN4;Q9NX46 ABBA01023317;AF212236;AJ313333;AJ427295;AK000453;AK223037;AK295283;AK316349;AL138787;AMYH01000492;BC014169;CH471059;CR457237;DC365461;NM_017825 AAH14169;AAK14922;BAA91174;BAD96757;BAG58267;BAH14720;CAC85940;CAD20316;CAG33518;EAX07389;EAX07390;NP_060295;Q9NX46 Hs.18021 1662974;1850692 RH16011;SHGC-74600 ARH3;FLJ20446 ADP-ribosylhydrolase 3;OTTHUMP00000008926;[Protein ADP-ribosylarginine] hydrolase-like protein 2;poly(ADP-ribose) glycohydrolase ARH3;protein ADP-ribosylarginine hydrolase-like protein 2 APPROVED protein-coding ENSG00000116863 21304 12432 610624 REVIEWED 731080 ADRA2B adrenoceptor alpha 2B Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. This intronless gene encodes the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. A polymorphic variant of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat element, was identified to have decreased G protein-coupled receptor kinase-mediated phosphorylation and desensitization; this polymorphic form is also associated with reduced basal metabolic rate in obese subjects and may therefore contribute to the pathogenesis of obesity. [provided by RefSeq, Aug 2011] 2 2 q11.1 96142350 96145615 - 96778623 96781888 - 1559314;1559315;1559313;1580863;1300265;2313541;2313542;2313545;2313548;2313543;2313544;6480464 12535806;12121839;14744925;10404816;18953403;17516297;15660746;17070424;17277585;17039423 2164221;19352218;19056576;18996102;18854756;18596718;18456256;18054844;17660814;17625217;17620957;17595424;17410123;17370102;16907703;16776624;16645408;16336817;16269962;16247508;15920038;15900285;15900214;15893292;15864138;15864122;15815621;15731590;15719258;15592690;15309292;15166301;15037199;12946937;12917501;12822042;12629104;12519093;12477932;12401126;11753579;11345359;11140838;11056163;10647009;10224112;9435676;9235896;3012234;2842764;2173582;2172775;2169434;11154706;22218095;22743060;2834384;20424170;18240029;19477270;19477404;19593211;19728989;19781422;19815603;19826083;19874574;20044737;20051907;20110158;16531006;17215105;20613626;20651814;20692245;20705341;11313909;20401689;21159032;23105096;21965191;22570080;21357695;21878072;20739228;21942960;21854681;21259387;22170367;22025613;22839581;22404651;22560155;23225885;22701600 151 A2RUS0;P18089 AA887330;ABBA01036597;AC092603;AF005900;AF316895;AMYH01010721;AY548167;BC133021;BC136537;BF475329;CH471207;CV806541;DQ057076;EU332847;M34041;M38742;NG_032950;NM_000682 AAA51666;AAA62823;AAB62558;AAI33022;AAI36538;AAK01635;AAS55646;AAX93218;AAY43127;ABY87536;EAW71390;NP_000673;P18089 Hs.247686 1685708;2218194;5492567;5493021 ADRA2B__4260;RH80277;UniSTS:481696;UniSTS:483802 ADRA2L1;ADRA2RL1;ADRARL1;ALPHA2BAR;alpha-2BAR ADRA2B adrenergic, alpha-2B-, receptor;G-protein coupled receptor;OTTHUMP00000205577;aadrenergic, alpha-2b-, receptor;adrenergic receptor alpha 2B;adrenergic, alpha-2B-, receptor;alpha-2 adrenergic receptor subtype C2;alpha-2-adrenergic receptor-like 1;alpha-2B adrenergic receptor;alpha-2B adrenoceptor;alpha-2B adrenoreceptor;alpha-2B-adrenergic receptor;alpha-2BAR APPROVED protein-coding ENSG00000222040 282 00086 104260 REVIEWED 737142 ADRA2C adrenoceptor alpha 2C Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] 4 4 p16 3738094 3740051 + 3768296 3770253 + 1300355;1580863;6480464;6893568;6893571;7240710 12374873;20007733;12946573 9371698;10196213;19423370;19352218;19309415;18947427;18835330;18794726;18776959;18702968;18698227;18511740;18487435;18435421;18320080;18308161;18075481;18071056;17971028;17655760;17644575;17496726;17383306;17351367;17223428;17192578;17075692;16636200;16605244;16569551;16464220;16407897;16299019;16187973;15946904;15920038;15861038;15719258;15683753;15592690;15542284;15345481;15319474;12946937;12210281;11317218;11140838;10945659;10801795;10647009;10224112;9235896;8188260;7688069;2842764;1849485;1349607;11154706;16531006;17215105;20128806;12477932;18240029;19444546;19477270;19477404;19742303;19874574;19880803;20398908;11313909;18577758;20613626;20692245;20705341;21041608;19167638;22040172;21298476;22503931;23275278;22560155 152 D6RGL0;P18825;Q4W594 ABBA01029458;AC141928;AF280399;AF280400;AMYH01013895;AMYH01013896;AY455666;AY605898;BC142625;CS566010;D13538;EU332833;HI639509;J03853;NG_012640;NM_000683;U72648;X72924 AAA35513;AAC78723;AAG28076;AAG28077;AAI42626;AAR18071;AAT02221;AAY41059;ABY87522;BAA02737;CAN37604;CBX55893;NP_000674;P18825 Hs.123022 1661855;1775960;5492869 D4S3282;STS-J03853;UniSTS:483109 ADRA2L2;ADRA2RL2;ADRARL2;ALPHA2CAR OTTHUMP00000216667;adrenergic receptor, alpha 2c;adrenergic, alpha-2C-, receptor;alpha-2 adrenergic receptor subtype C4;alpha-2C adrenergic receptor;alpha-2C adrenoceptor;alpha-2C adrenoreceptor;alpha-2C-adrenergic receptor;alpha-2CAR;alpha2-AR-C4 APPROVED protein-coding ENSG00000184160 283 00085 104250 REVIEWED 737381 ADRA2A adrenoceptor alpha 2A Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008] 10 10 q25.2 112826911 112830560 + 112836790 112840665 + 1559309;1331525;1358368;1580863;1625183;6480484;6480273;6480479;6480481;6480482;6480483;6480488;6480464;6480487;6480106;2316628;6480490;6893571 16178932;15118671;10909127;16636200;19150055;21745713;21669254;21542970;20047711;19894027;17959985;20302880;21871540;19965390;20691504;12946573 22091949;16823803;16809338;16806103;16728691;16605244;16583406;16567612;16531006;16513442;16464220;16389583;16333651;16172611;15939803;15920038;15824464;15795790;15719258;15719154;15717291;15653687;15592690;15520832;15494033;15489334;15199368;15164054;15138209;15070958;15028622;15006432;12946937;12815749;12707939;12627476;12544508;12529373;12477932;12370125;12080184;12054508;12023679;12019440;11888275;10896916;1354394;9624180;2823383;6259160;19423370;19401164;19388931;19365399;19352218;19309415;19088492;19086053;19058789;18996102;18842695;18794646;18725220;18600088;18561481;18547701;18511740;18480058;18314873;18200436;18075481;17971028;17894416;17655843;17655760;17612790;17544870;17522710;17512307;17283289;17215105;17159089;17081983;17075692;17034020;16917924;16869226;16854373;11886485;11732925;11475011;11467765;11425010;11343863;11248750;11140838;11039642;10948191;10647009;10224112;9235896;8889548;8226727;8098045;8011430;7887906;7876239;2568356;2170371;1849485;1678850;1678390;1385431;1334200;11154706;15782186;21103886;10948198;18240029;19439247;19477270;19491387;19506906;19568979;19604092;19833115;19834535;19874574;19876010;19922756;20044737;20081858;20110357;20135061;20146095;20419449;20468064;20526338;10952463;18577758;19913121;20532885;20551163;20571754;20602615;20613626;20628086;20692245;20705341;20731965;11313909;20696855;20660048;20538960;20833658;20864182;20952631;21059181;21063237;21070505;21105277;23105096;21104443;21325151;21613201;21298412;22940547;20850464;21455730;21823169;23207081;22061269;22581228;23153004;22694918;15123239;22560155 150 P08913 ABBA01063019;AF262016;AF281308;AF284095;AF316894;AL158163;AMYH01003065;AY032736;BC035047;BC050414;BM682651;CH471066;DQ149926;DQ285607;EU332846;M18415;M23533;NG_012020;NM_000681 AAA51664;AAA51665;AAF91441;AAG00447;AAH35047;AAH50414;AAK01634;AAK26743;AAK51162;AAZ73101;ABB72683;ABY87535;EAW49547;NP_000672;P08913 Hs.249159 1681586;1742221;2138424;2139567;2218192 ADRA2A__4205;D10S1861;GDB:193856;RH93859;STS-AA040321 ADRA2;ADRA2R;ADRAR;ALPHA2AAR;ZNF32 OTTHUMP00000020485;adrenergic receptor, alpha 2a;adrenergic, alpha-2A-, receptor;alpha-2 adrenergic receptor subtype C10;alpha-2-adrenergic receptor, platelet type;alpha-2A adrenergic receptor;alpha-2A adrenoceptor;alpha-2A adrenoreceptor;alpha-2AAR subtype C10 APPROVED protein-coding ENSG00000150594 281 00078 104210 REVIEWED 731036 ADRBK1 adrenergic, beta, receptor kinase 1 The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008] 11 11 q13.1 66790481 66810605 + 67033905 67054029 + 1580269;737775;1580863;632163;1625784;1625786;1625788;1625789;1625791;737776;1625790;4140391;5133417;5688380;5688373;6480464;5688378;5685370;6484113;6907045;7207470;5135529;7207060 16142243;9618528;1403099;17256744;15097244;10642272;16478977;15994203;11331748;9931137;19110970;16304060;10094932;18662895;16849637;17996024;19395963;19229505;15637145 17986524;1339451;19400979;19338266;19306925;19257866;18511496;18463167;18451066;18425130;18369319;17998459;17544362;17482545;17276003;17146290;17102134;17055984;17008309;17006543;17000469;16984558;16920721;16725308;16605244;16356165;16121194;16081410;16077899;15919661;15870073;15843435;15778405;15653687;15618519;15542600;15489334;15471870;15271984;14997482;14729942;14654844;14557268;12885252;12750365;12679936;12639913;12624098;12552191;12507501;12486133;12477932;12456365;12435819;12379128;12351722;12163475;12130708;12130691;12123746;12107237;11762794;11517230;11309381;11278469;11042191;11040053;10896954;10884381;10861009;10858453;10852916;10754297;10744734;10727525;10722682;10617630;10574913;10467231;10379886;10091590;10085131;10085129;15051637;9501202;9446593;8885248;8662816;8195124;7876239;7836371;2037065;9211925;9826657;16091361;17548351;15569306;15620700;16094730;19292735;19487588;19620130;19815545;19846537;19906838;20080565;20468064;20807772;20443852;20460384;20443948;20627936;20493668;19913121;20628086;20730384;20814022;12381737;20696855;21081496;21127457;21357420;21283592;21464134;22196842;20335112;17893145;20684281;23029581;23494575;21705320;21473908;20501412;21900206;21952200;21784156;22089113;21983013;22193721;19953087;21890473;22589388;22375000;21988832;23139825;23221335;23455922;23705503;22731384;23076141;23362259;22505724;22735336;23467820 156 E9PRV7;P25098 AB209588;ABBA01024041;ABBA01024042;AI888604;AK131506;AMYH01003742;AP001885;BC037963;BC090863;CH471076;DN989901;EU326303;M80776;NM_001619;U08435;U08436;U08437;U08438;X61157 AAA58391;AAB60689;AAH37963;AAH90863;ABM82074;ABM85254;ACA05909;BAD92825;CAA43470;EAW74581;EAW74582;NP_001610;P25098 Hs.83636 2113958;2177282;2191167;5492139 ADRBK1;MARC_15697-15698:1013523581:1;WI-15244;adrbk1sts1 BARK1;BETA-ARK1;FLJ16718;GRK2 G-protein coupled receptor kinase 2;OTTHUMP00000235171;beta-ARK-1;beta-adrenergic receptor kinase 1 APPROVED protein-coding ENSG00000173020 289 00182 109635 REVIEWED 737467 ADRB3 adrenoceptor beta 3 The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009] 8 8 p12 37939673 37943341 - 37820513 37824184 - 1559325;1559326;1559323;737773;1580863;1331525;1300267;2313165;2313163;2313161;2313164;2313148;2313149;2313167;2313158;2313166;5129115;5129107;5129118;5684357;5684359;5684890;2292119;5684917;5684773;5684403;5684400;5684412;5684422;5684775;5684894;2311642;5684776;5684892;5684893;5684895;5684355;6480464;5684421;5684398;5684409;6907045;7240710 9126344;10421225;8011597;12161655;15118671;7609752;11014217;16444766;16634992;15743038;19659999;17727676;19158405;17299491;10981554;21054861;20203292;19785950;20123316;19373220;18492028;17999941;21549119;9892244;9867224;9313761;11229427;21285172;20808804;11803250;17440948;20536507;15318095;12739037;10930169;20739470;10582543;11273992;11882399 17640319;17631141;17626108;17624182;17616777;17591269;17512307;17476189;17445027;17439327;17378367;17345789;17345787;17342473;17299381;17270896;17264845;17225053;17190106;17124363;17087055;17046546;16820065;16779985;16715838;16648810;16493638;16449022;16408483;16369102;16344560;16320158;16301818;16286518;16276029;16054001;16027735;16009000;15959859;15956122;15942638;15939803;15917856;15915764;15833937;15824464;15751274;15670186;15641247;15613846;15585565;15563584;15543217;15536594;15489932;15489334;15479221;15472194;15464701;15355441;15340101;15334382;15334374;15302798;15193960;15192823;15179018;15166301;15079793;15061987;15042014;14747257;14742851;14739355;14715679;14713387;14708035;14690019;14671190;14506613;12962933;12917707;12824951;12739018;12732844;12709137;12690078;12670949;12647276;12629568;12568179;12561621;12544508;12477932;12453902;12442007;12411100;12410955;12406043;12370850;12241539;12169859;12164325;12133431;12082592;12062855;12037740;12008746;11984699;14510956;11949887;11875710;11872697;11854867;11808891;11798745;11769635;11743057;11743056;11716317;11706779;11699048;11592045;11576322;11573151;11532330;11522702;11466580;11439286;11434877;11380082;11315829;11288809;11287026;11244458;11213599;11206402;11147800;11095426;11093283;11013230;10999801;10805511;10786926;10391210;8721782;15123695;2570461;1718744;19576569;19491387;19479237;19420105;19367093;19295193;19271249;19263529;19193342;19131662;19099777;19080138;19056576;19026982;18996293;18996102;18940396;18936436;18852493;18820136;18753860;18724972;18704193;18636124;18625943;18617734;18611262;18574485;18513389;18510051;18484422;18482921;18441513;18426866;18422027;18393130;18335327;18331634;18311486;18273796;18249219;18249022;18239290;18088254;18054709;17998022;17989355;17940985;17910280;17852419;17786291;17785925;8641219;8389717;8389293;8380813;8288218;7898940;7609625;7565630;1336117;15932670;18240029;19553224;19565482;19578796;19587357;19779464;19842096;20008926;20044737;20078877;20144152;20384434;20401689;20410100;20449541;20459474;20467565;20468064;20503258;20069060;12036966;22774474;19913121;20602615;20628086;20662153;20686326;20705341;20730725;20803423;20831043;21033077;21034552;21085551;22609474;20735409;20953633;21959333;21878665;21940308;21529759;22550477;22774401;23235150;22306453;22430195;21992420;22692629;22743651;23388888;23454374 155 A8KAG8;P13945 ABBA01023564;AC144573;AK293033;AK309919;AK313857;AMYH01018652;AY487247;BC075017;BQ024407;CH471080;DA904248;DQ104441;FJ170286;FJ170287;M29932;NG_011936;NM_000025;S53291;X70811;X70812;X72861 AAA35550;AAB24837;AAH75017;AAR37414;AAY88743;ACL14174;ACL14175;BAF85722;BAG36585;CAA50141;CAA50142;CAA50143;CAA51383;EAW63343;EAW63344;NP_000016;P13945 Hs.2549 1777834;1792786;1794066;1795328;2184012;5022784;5492340 ADRB3;ADRB3_418;D8S2331;MARC_68773-68774:1209743884:2;PMC164531P1;PMC310777P4;WI-9207 BETA3AR;FLJ99960 OTTHUMP00000225623;adrenergic, beta-3-, receptor;beta-3 adrenergic receptor;beta-3 adrenoceptor;beta-3 adrenoreceptor 2289520;2314765;2314776 BW458_H;GLUCO100_H;GLUCO101_H APPROVED protein-coding ENSG00000188778 288 00188 109691;601665 REVIEWED 733595 ADRB2 adrenoceptor beta 2, surface This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008] 5 5 q31-q32 148186349 148188381 + 148206156 148208197 + 1559320;1559319;737773;1598757;1598759;1580863;1598745;1598746;1598754;1331525;1601119;1601124;1601120;1601121;1601125;1601123;1578728;1601122;1601126;1601127;1601128;4145081;4145094;4145080;4145095;2325640;4140935;4144900;4145041;4144884;4145093;4145097;4145061;4145098;4145086;4145092;4145099;4145108;4140444;4145082;4145096;4145105;4140391;4144883;4145107;4144899;4140443;5129151;5129114;5129118;5129113;5129107;5129128;5129119;5129132;5508374;6480464;6907045;7175063;7175066;7175274;7175276;7175281;7175283;7175285;7175286;7175287;7240710 11718682;10577992;12161655;11510954;11408541;16603198;16269402;14630341;15118671;17221209;16082424;17178264;17020471;15699455;16685203;16041242;17027833;15520258;14557466;12682000;19638684;18785519;19747908;18667995;16292515;20525719;20185685;19925785;20546540;18336819;19800676;17687719;19080468;19029431;17502834;20443840;18426615;19293197;18569231;20004781;19110970;20739939;19423772;20211002;19127141;16908771;11527135;19785950;1655856;20203292;18987456;19587314;18287209;15795180;22772914;20484896;20349426;14747378;19887504;19020966;12442007;9730702;2471888 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154 Q9BYZ0;Q9UCZ3 AA886615;ABBA01026314;AC011354;AF022953;AF022954;AF022955;AF022956;AF169225;AF202305;AF203386;AK223025;AK313151;AMYH01015700;AY011291;AY136741;BC012481;BC063486;BC073856;CH471062;DA705141;DQ094845;HC295426;J02960;M15169;NG_016421;NM_000024;X04827;Y00106 AAA88014;AAA88015;AAA88017;AAB82148;AAB82149;AAB82150;AAB82151;AAD48036;AAF17569;AAF20199;AAG35451;AAH12481;AAH63486;AAH73856;AAN01267;AAY88739;BAD96745;BAG35969;CAA28511;CAA68289;CBJ06537;EAW61798;NP_000015;P07550 Hs.2551 1682013;1743199;1745399;1745401;1745403;1791159;1791418;1791568;1795326;2178460;5017703 ADRB2;ADRB2_1263;ADRB2sts1;GDB:294209;GDB:606222;GDB:606238;GDB:606265;PMC109640P1;PMC115184P1;RH79898;WI-19151 ADRB2R;ADRBR;B2AR;BAR;BETA2AR OTTHUMP00000160386;adrenergic receptor, beta 2;adrenergic, beta-2-, receptor, surface;beta-2 adrenergic receptor;beta-2 adrenoceptor;beta-2 adrenoreceptor;catecholamine receptor 2289514;2289517 BW455_H;BW456_H APPROVED protein-coding ENSG00000169252 286 00187 109690;600807;601665 REVIEWED 730840 ADRBK2 adrenergic, beta, receptor kinase 2 The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008] 22 22 q12.1 24290861 24455259 + 25960861 26125259 + 1580863;632163;5133417;5147387;5685025;5685027;5685029;5685370;6480464;6484113;6907045;7207060 1403099;16304060;16484629;20677219;19728039;19400979;17996024;15637145 21916780;22623531;8427589;19086053;18359007;18274673;18075471;18029348;17621168;17106420;15728711;15498832;15087239;14702039;12808434;12477932;12130708;11762794;11668182;11517230;11060299;10754297;10591208;10085131;9826657;8662816;7695743;1869533;20216086;19766236;20379614;20398908;20468064;19913121;20628086;20734064;20596523;21784156;21139048;22086906;22505724 157 H7C099;P35626;Q8N433 ABBA01055180;ABBA01055181;AK055687;AK058103;AK123767;AK124922;AK292234;AK310398;AL022329;AMYH01012680;BC021221;BC029563;BC036797;BC063545;BX387339;CH471095;NM_005160;X69117 AAH36797;BAF84923;CAA48870;EAW59698;EAW59699;EAW59700;EAW59701;NP_005151;P35626 Hs.657494 1334767;1336133;1336957;1341006;1341668;1341696;1653354;1655226;1663395;1666464;1673926;1680242;1682121;1684036;1686398;1711482;1720211;1730744;1760211;1772081;1774990;1776656;1795330;2127095;2149539;2150348;2153422;2158684;2164187;2168077;2174523;2181690;2186142;2187359;5022578;5037552;7185247;7185672;7186498 A004P15;ADRBK2_694;AL021680;AL022481;AL022484;D1S1423;D22S1032;D22S1035;D22S1136;D22S1164;D22S1557;D22S258;D22S315;D22S414;D22S419;D22S421;D22S533;D22S557;D22S650;D22S687;D22S926;D8S2279;G31025;G49242;RH124019;RH1697;RH27881;RH69573;RH70879;SHGC-132492;SHGC-2326;SHGC-30096;SHGC-31725;SHGC-33468;STS-H06831;STS-T29185 BARK2;GRK3 G-protein-coupled receptor kinase 3;OTTHUMP00000196857;beta-ARK-2;beta-adrenergic receptor kinase 2 APPROVED protein-coding ENSG00000100077 290 00183 109636 REVIEWED 1316916 ADSL adenylosuccinate lyase Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.2 39072509 39092698 + 40742504 40762577 + 1598762;1598766;1598760;1580863;5135488;6480464;6907045;7240710 3360219;2937404;3690833;20005278 8366112;16973378;11428554;18029348;18524658;17188615;15571235;15489334;15471876;15461802;15342556;12833398;12590570;12477932;12368987;12016589;11256614;10958654;10888601;10591208;10090474;9545543;9266401;9195976;8404037;8125298;1302001;1574589;19405474;19570815;19615732;20562859;20877624;22939629;20933180;22863883;18649008;16196087;21963094;21988832;21110914;21139048;21890473;21906983;22505724;22812634;22180458 158 E7ERF4;P30566 ABBA01055600;ABBA01055601;ABBA01055602;AF067853;AF067854;AF106656;AK225042;AK291091;AK298187;AK300705;AK308662;AL022238;AMYH01012788;BC000253;BC018881;BP298407;CH471095;CR456368;NG_007993;NM_000026;NM_001123378;S60710;X65867 AAC21560;AAC21561;AAC60603;AAC83935;AAH00253;ABM84252;ABM87641;BAF83780;BAG60458;BAG62384;CAA46696;CAA46697;CAG30254;CAK54366;CAK54665;EAW60375;EAW60376;EAW60377;NP_000017;NP_001116850;P30566 Hs.75527 1677296;1684184;1707456;1735046;5017202;5123132 D22S966E;RH27785;RH71398;RH77705;RH98333;SHGC-84522 AMPS;ASASE;ASL OTTHUMP00000199172;OTTHUMP00000199173;adenylosuccinase;adenylosuccinate lyase APPROVED protein-coding ENSG00000239900 291 00049 103050;608222 REVIEWED 736707 ADRM1 adhesion regulating molecule 1 This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 q13.33 60311422 60317313 + 60878027 60883918 + 1580863;6480464 16990800;11818576;8033103;19148532;18615678;18497817;17139257;17081983;16906146;16815440;16713569;16501559;15819879;15489334;14702039;12477932;11780052;10919708;20059542;20634424;20029029;20417181;18162577;18497827;18922472;18939944;19615732;19818731;20471946;20137344;20959455;21191146;19013454;19781552;22863883;21832049;21432940;16196087;18029348;17573772;20972266;21139048;21890473;21906983;19193609;22576803;18781797;19815544;20639865;21987572;22118674;21963094;23000965;23153250;22057889;22053931;22505724;22797925 11047 Q16186 ABBA01040097;AK054985;AK297567;AK307459;AL354836;AL558522;AMYH01012048;BC003059;BC010733;BC017245;BC093021;BG337785;BR000321;CH471077;CR749213;D64154;HY029018;HY178253;NM_001281437;NM_001281438;NM_007002;NM_175573 AAH10733;AAH17245;ABM84246;ABM87634;BAA11023;BAG59959;CAH18070;EAW75375;FAA00246;NP_001268366;NP_001268367;NP_008933;NP_783163;Q16186 Hs.90107 1690854;2135518;5113030 RH17482;RH79208;RH91973 ARM-1;ARM1;GP110;MGC29536;Rpn13 110 kDa cell membrane glycoprotein;ARM-1;M(r) 110,000 surface antigen;OTTHUMP00000031471;adhesion-regulating molecule 1;hRpn13;proteasomal ubiquitin receptor ADRM1;proteasome regulatory particle non-ATPase 13;regulatory particle non-ATPase 13;rpn13 homolog APPROVED protein-coding ENSG00000130706 15759 06440 610650 REVIEWED 1351020 ADSSL1 adenylosuccinate synthase like 1 ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 6.3.4.4), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005 [PubMed 15786719]).[supplied by OMIM, Dec 2008] 14 14 14 q32.33 85245724 85268719 + 104261579 104284692 + 105190534 105213647 + 5143928;5143930;1598762;6480464;6907045 2560335;10218106;3360219 15786719;15489334;14702039;12477932;11560929;1574589 122622 B3KTV4;G3V232;G3V2N1;G3V5D8;Q8N142 ABBA01002986;ABBA01002987;AK095921;AK096124;AK096720;AL583722;AMYH01006063;AY037159;BC032039;BC047904;BX248286;CH471061;NM_152328;NM_199165 AAH32039;AAH47904;AAK67646;BAC04649;BAG53216;BAG53356;CAD62614;EAW81876;NP_689541;NP_954634;Q8N142 Hs.592327 1854061;2132787;2132789 A001U22;G19662;SGC32943 FLJ38602 AMPSase 1;IMP--aspartate ligase 1;M-type adenylosuccinate synthetase;OTTHUMP00000244483;OTTHUMP00000244484;adSS 1;adenylosuccinate synthetase isozyme 1;adenylosuccinate synthetase, basic isozyme;adenylosuccinate synthetase, muscle isozyme APPROVED protein-coding ENSG00000185100 20093 12433 612498 VALIDATED 1321450 ADSS adenylosuccinate synthase This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010] 1 1 q44 242638419 242682036 - 244571794 244615436 - 1580863;5143928;5143930;1598762;6480464;6907045 2560335;10218106;3360219 1592113;15786719;2004783;19115993;18721483;18469177;15489334;12477932;8887278;4436310;648524;21145461;1574589;18029348;20562859;22939629;21139048;21890473;21906983;22863883;23000965;23251661;22505724 159 P30520 ABBA01047198;AK025514;AK303886;AK308749;AL591594;AL645465;AMYH01001895;BC012356;BE538442;BG700800;BI559850;CH471148;NM_001126;X66503 AAH12356;ACE86444;ACE87120;BAG64822;CAA47123;EAW77102;EAW77103;NP_001117;P30520 Hs.498313 1705696;1707196;1750869;1849333;1857867;2153375;5017869 ADSS;SHGC-104641;SHGC-31639;SHGC-76611;SHGC-76618;SHGC-79184;SHGC-83429 ADEH;ADSS 2;MGC20404 AMPSase 2;IMP--aspartate ligase 2;L-type adenylosuccinate synthetase;OTTHUMP00000037982;adSS 2;adenylosuccinate synthetase (Ade(-)H-complementing);adenylosuccinate synthetase isozyme 2;adenylosuccinate synthetase, acidic isozyme;adenylosuccinate synthetase, liver isozyme APPROVED protein-coding ENSG00000035687 292 00050 103060 REVIEWED 1601680 AE01 uncharacterized LOC440670 1 1 q21.1 146401706 146420042 + 146401706 146420042 + 16079250;14702039;12477932;10574462 440670 AC026900;AL359176;XM_001717398 XP_001717450 5016673;5016954;5018987;5094058;5119126 AL033815;D1S2290;G34947;RH66976;RH80466 KIAA1245;NBPF9 hypothetical LOC440670;uncharacterized LOC440670 APPROVED protein-coding 613999 1316303 AEBP2 AE binding protein 2 12 12 12 p12.3 24745851 24829274 + 19483900 19564846 + 19592608 19675173 + 737633;6480464 12477932 16344560;16189514;15225548;10329662;19322201;12351676;16431907;21832049;21906983;21946350;23251661 121536 F5GZR7;G5EA50;H0YH08;H7BYT4;Q6ZN18 AA195771;AB209384;ABBA01067942;ABBA01067943;ABBA01067944;ABBA01067945;ABBA01067946;AC091805;AK025788;AK126973;AK131361;AK131410;AMYH01004313;BC015624;BC022220;CH471094;CX868393;DB244333;NM_001114176;NM_001267043;NM_153207 AAH15624;AAH22220;ABZ92093;BAD18513;BAD18557;BAD92621;BAG54413;EAW96398;EAW96399;EAW96400;NP_001107648;NP_001253972;NP_694939;Q6ZN18 Hs.126497 1659905;1851891;2117007;2151070;2185913 D12S1306;RH45148;RH45680;STS-N23390;WI-18350 MGC17922 AE(adipocyte enhancer)-binding protein 2;AE-binding protein 2;OTTHUMP00000239734;OTTHUMP00000239735;OTTHUMP00000239736;OTTHUMP00000239737;adipocyte enhancer-binding protein 2;zinc finger protein AEBP2 protein-coding 24051 16477 VALIDATED 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type 308 1313849 ADTRP androgen-dependent TFPI-regulating protein 6 6 6 p24.1 12941888 13007296 - 11821895 11887052 - 11713888 11779280 - 6480464 16415175;15489334;15342556;14702039;14574404;12477932;20379614;21378986;21868574;21618603;21988832 84830 D6R9A9;D6R9E5;D6RDG9;H0Y9P4;H0YAA5;Q96IZ2 ABBA01022105;AI147084;AI336841;AJ420520;AK123258;AK300919;AK310611;AK313114;AL022724;AMYH01016085;BC007011;BP330027;CH471087;DC388625;JA738637;JA738639;NM_001143948;NM_032744 AAH07011;BAG35936;BAG62551;CCF76971;CCF76972;EAW55304;EAW55305;EAW55306;NP_001137420;NP_116133;Q96IZ2 Hs.126409 1684818;1849452 RH48372;RH98426 AIG1L;C6orf105;MGC12335;RP3-413H6.1;dJ413H6.1 OTTHUMP00000016034;OTTHUMP00000016035;OTTHUMP00000221435;OTTHUMP00000221436;OTTHUMP00000221438;androgen-dependent TFPI-regulating protein;androgen-dependent TPF1-regulating protein;androgen-induced 1-like;hypothetical protein LOC84830 APPROVED protein-coding ENSG00000111863 21214 12836 614348 VALIDATED 1350331 AF8T AF8 temperature sensitivity complementing 169 309 1348567 AFA ankyloblepharon filiforme adnatum 7240710 170 310 1315812 AEBP1 AE binding protein 1 This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013] 7 7 7 p13 44241911 44252113 + 44110485 44120684 + 44143960 44154159 + 1580863;6480464 19179605;16307171;14702039;12690205;12477932;11438679;10510298;9624159;8920928;20419060;18624398;16344560;20396415;22796454;22821744;8889548;9099699;22723309 165 C9JLQ8;H7C0W8;H7C1J5;H7C391;H7C3D7;H7C4B5;Q8IUX7 AACC02000110;AB209744;ABBA01058215;AC006454;AF053944;AK090931;AK127541;AK296001;AMYH01017209;BC038588;BM672693;CH236960;CH471128;D86479;DB213495;NM_001129 AAC25585;AAH38588;BAA13094;BAC87026;BAD92981;BAG52248;BAG58775;EAL23768;EAW61119;NP_001120;Q8IUX7 Hs.439463 1771667;2146707 A006F20;RH71212 ACLP;FLJ33612 AE-binding protein 1;OTTHUMP00000159251;adipocyte enhancer binding protein 1;adipocyte enhancer-binding protein 1;aortic carboxypeptidase-like protein APPROVED protein-coding ENSG00000106624 303 04281 602981 REVIEWED 1352828 AFD1 acrofacial dysostosis 1, Nager type 7240710 171 312 154400 1601976 AEN apoptosis enhancing nuclease 15 15 15 q26.1 65565411 65576403 + 86965593 86976516 + 89164527 89175512 + 6480464 17207965;16171785;18264133;14702039;12477932;20429933;21906983;18029348 64782 H0YMJ6;Q8WTP8 AB209323;ABBA01053000;AC013489;AF318330;AF327352;AK022546;AK022624;AK308119;AMYH01006909;BC005164;BC014407;BC020988;CA441442;CH471101;NM_022767 AAH05164;AAH14407;AAH20988;AAL55837;AAL56012;ADQ32293;BAB14091;BAD92560;EAX02009;EAX02010;EAX02011;NP_073604;Q8WTP8 Hs.436102 1669226 RH44907 FLJ12484;FLJ12562;ISG20L1;pp12744 OTTHUMP00000192920;apoptosis-enhancing nuclease;interferon stimulated exonuclease gene 20kDa-like 1;interferon-stimulated 20 kDa exonuclease-like 1 protein-coding ENSG00000181026 25722 08573 610177 VALIDATED 4107292 AFAP1-AS1 AFAP1 antisense RNA 1 4 4 4 p16.1 7657683 7682522 + 7830079 7830638 + 7755817 7780655 + 12477932;23333711 84740 ABBA01012755;AC004169;AC112254;AMYH01013926;BC004397;BC014113;BC043614;NR_026892 Hs.663029 1693772;2133890;2137579;2145900;2145902;2153300;2155200;2182543 A005T26;D4S1132;G01837;G01905;G20482;SHGC-58846;SHGC-67377;SHGC-67969 AFAP1-AS;AFAP1AS APPROVED miscrna 28141 VALIDATED 6481098 AFF2-IT1 AFF2 intronic transcript 1 (non-protein coding) 100874269 AC002368 miscrna 41334 737345 AES amino-terminal enhancer of split The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 3003908 3013964 - 3052908 3062964 - 1580863;6480464 11390640;8365415;9809752;18438919;16713569;15057824;15006356;14702039;12477932;12441302;12050133;12030375;11748221;11416139;10748198;10660609;10395201;9887105;8889549;10825294;16169070;17353931;20676368;11266540;15489227;16002402;20163360;19460168;20936779;21937451;22863883;21245488;22354967;21139048;21890473;21906983;21987572;19322201;22505724 166 K7ELE3;K7ELQ8;K7EQH5;Q08117;Q8WY48 ABBA01002792;ABBA01002793;ABBA01002794;ABBA01002795;ABBA01002796;AC005944;AF072902;AF269289;AK094591;AK095154;AK314713;AMYH01009298;AMYH01009299;BC113735;BC113737;BG696926;BG913049;BM550097;BM908356;CH471139;N23852;NG_029870;NM_001130;NM_198969;NM_198970;U04241;U88832;X73357;X73358 AAA16223;AAC35517;AAC72103;AAD00654;AAG23172;AAI13736;AAI13738;ADR82903;BAG37257;BAG52894;CAA51768;EAW69341;EAW69342;EAW69343;EAW69344;EAW69345;EAW69346;EAW69347;NP_001121;NP_945320;NP_945321;Q08117 Hs.515053 1298107;1770453;1776133;2110243;5093656 A009U26;AES_7743;D19S1166;G32846;RH69316 AES-1;AES-2;ESP1;GRG;GRG5;TLE5 amino enhancer of split;amino-terminal enhancer of split;gp130-associated protein GAM APPROVED protein-coding ENSG00000104964 307 02556 600188 REVIEWED 1606158 AFAP1L1 actin filament associated protein 1-like 1 5 5 5 q32 144733389 144803357 + 148631651 148701558 + 148651401 148721368 + 6480464 17353931;16344560;14702039;12477932;21333378;23326307;21516130;23251661 134265 Q8TED9 ABBA01026306;ABBA01026307;AC012613;AC131025;AK074185;AK094067;AK095980;AMYH01015700;BC040723;BC125093;BC125094;BM998635;CH471062;DA792192;NM_001146337;NM_152406 AAH40723;AAI25094;AAI25095;BAB85011;BAC04277;BAC04664;EAW61787;NP_001139809;NP_689619;Q8TED9 Hs.483793 1740455;2143267;2143272;2186563;2190945;5014656;5022651 D11S2921;D5S2256E;D5S2661;L31452;MARC_11935-11936:1003495836:1;STS-AA028117;WI-16209 FLJ36748;MGC149773 AFAP1-like protein 1;OTTHUMP00000223939;OTTHUMP00000223958;actin filament-associated protein 1-like 1 protein-coding ENSG00000157510 26714 16943 614410 VALIDATED 1343236 AFF2 AF4/FMR2 family, member 2 This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2009] X X q28 147389831 147889899 + 147582139 148082193 + 1580863;6480464;7240710 17474147;8673086;18029348;17196195;15772651;12777533;12477932;11355014;11119302;10964075;10850542;10780779;10737800;10528856;10196698;9467002;9299237;9147647;8824884;8673085;7783162;21330300;20734064;21254876;1301146;19136466;7541938;8023854;8334699;8651274;8900249;9032643;9341861;9475603;22065534;22773736 2334 F8W6J4;P78407 AB101711;AB101712;AB101713;AB101714;AB101715;AB101716;AB101717;AB101718;AB101719;AB101720;AB101721;AB101722;AB101723;AB101724;AB101725;AB101726;AB101727;AB101728;AB101729;AB101730;AB102644;ABBA01049704;ABBA01049705;ABBA01049706;ABBA01049707;ABBA01049708;ABBA01049709;ABBA01049710;ABBA01049711;ABBA01049712;ABBA01049713;ABBA01049714;ABBA01049715;ABBA01049716;ABBA01049717;ABBA01049718;ABBA01049719;ABBA01049720;ABBA01049721;ABBA01049722;ABBA01049723;ABBA01049724;ABBA01049725;ABBA01049726;ABBA01049727;ABBA01049728;ABBA01049729;ABBA01049730;ABBA01049731;ABBA01049732;ABBA01049733;ABBA01049734;ABBA01049735;ABBA01049736;ABBA01049737;ABBA01049738;ABBA01049739;ABBA01049740;ABBA01049741;ABBA01049742;ABBA01049743;ABBA01049744;ABBA01049745;ABBA01049746;ABBA01049747;ABBA01049748;ABBA01049749;ABBA01049750;ABBA01049751;ABBA01049752;ABBA01049753;AC002368;AC005731;AC006516;AC015552;AC231841;AF012624;AJ001550;AK301927;AK311467;AMYH01023186;AMYH01023187;AMYH01023188;AMYH01023189;AMYH01023190;BC132683;BC143740;BC143744;BI030785;CH471171;L76569;NG_016313;NM_001169122;NM_001169123;NM_001169124;NM_001169125;NM_001170628;NM_002025;U48436;X95463 AAA99416;AAB71534;AAC82513;AAI32684;AAI43741;AAI43745;BAC80300;BAC80301;BAC80302;BAC80303;BAC80304;BAC80305;BAC80306;BAC80307;BAC80308;BAC80309;BAC80310;BAC80311;BAC80312;BAC80313;BAC80314;BAC80315;BAC80316;BAC80317;BAC80318;BAC80319;BAC81113;BAG63347;CAA04822;CAA64730;EAW61286;EAW61287;EAW61288;EAW61289;NP_001162593;NP_001162594;NP_001162595;NP_001162596;NP_001164099;NP_002016;P51816 Hs.496911 1340760;1645732;1664678;1667249;1689157;1702246;1702254;1702276;1714889;1715173;1732209;1733496;1742915;1776981;1789703;1789705;2115025;2136895;2136915;2171127;2173866;2175552;5095082 AFF2;AFM323YF1;DXS1318;DXS1691;DXS6687;DXS6729;DXS7394;DXS7812;DXS8091;DXS8272;DXS8273;GDB:215331;RH119837;RH120439;RH18451;RH45213;RH66769;RH70649;SHGC-7435;UniSTS:99231;WI-14955;Xq4086;Xq4087 FMR2;FMR2P;FRAXE;MRX2;OX19 AF4/FMR2 family member 2;FMR2P;OTTHUMP00000024204;OTTHUMP00000024206;fragile X E mental retardation syndrome protein;fragile X mental retardation 2 protein;protein FMR-2 APPROVED protein-coding ENSG00000155966 3776 02397 300806;309548 REVIEWED 1321706 AFAP1L2 actin filament associated protein 1-like 2 10 10 10 q25.3 109783766 109893772 - 116044573 116154505 - 116054583 116164515 - 6480464 21224076;22190283;17412687;15951569;15489334;15164054;14702039;12477932;11572484;16385451;20201926;21832049;22927913;22928011;18029348;21044950;16713569;20125193 84632 F5GZE1;F6QUH3;Q8N4X5 AB067501;ABBA01062978;ABBA01062979;ABBA01062980;AC005383;AF474151;AK123108;AK291712;AK294969;AK295538;AL133384;AL355302;AMYH01003087;AMYH01003088;AMYH01003089;BC016403;BC024314;BC033212;BC035713;CH471066;NM_001001936;NM_032550 AAH24314;AAH33212;AAQ05765;BAB67807;BAF84401;BAG53870;BAH11936;BAH12099;EAW49470;EAW49471;EAW49472;EAW49473;EAW49474;NP_001001936;NP_115939;Q8N4X5 Hs.501106 1338820;1339202;1681869;1697352;2113084;2171025 D10S1237;D10S1563;D10S1681;D10S2451;RH102174;RH91184 FLJ14564;KIAA1914;XB130 AFAP1-like protein 2;CTB-1144G6.4;OTTHUMP00000020527;OTTHUMP00000020528;actin filament-associated protein 1-like 2 protein-coding ENSG00000169129 25901 13902 612420 VALIDATED 1605642 AFAP1 actin filament associated protein 1 The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 4 4 p16 7811340 7992553 - 7760440 7941653 - 6480464 16751776;17520695;16344560;15345747;15146197;14755689;12477932;12134071;11641786;11607843;10666339;9655255;9619827;7545969;18029348;21150319;23333711 60312 Q6ZRV0;Q8N556 AB209676;ABBA01008682;ABBA01008683;ABBA01008684;ABBA01012755;AC004169;AC097381;AC112254;AC141931;AC144451;AF188700;AK127962;AK290807;AK297631;AL706541;AMYH01013926;AMYH01013927;BC015900;BC032777;BI561136;CA448961;CH471131;CN308844;D25248;DA605903;DB450895;DQ585763;NM_001134647;NM_198595 AAG17055;AAH32777;BAC87209;BAD92913;BAF83496;BAG60004;EAW82360;NP_001128119;NP_940997;Q8N556 Hs.529369 1658864;1668337;1674828;1693772;1716561;1755581;1766025;1785122;1851015;2110173;2116765;2133890;2137579;2145900;2145902;2149014;2153300;2182543;2189123 A005T26;D4S2836;D4S2855;D4S3273;D4S540;G01837;G01905;G20482;G34271;G65147;RH121625;SHGC-142434;SHGC-149413;SHGC-155347;SHGC-58846;SHGC-67377;SHGC-67801;SHGC-67969;st84j12-8d10 AFAP;AFAP-110;AFAP110;FLJ56849 110 kDa actin filament-associated protein;OTTHUMP00000155170;OTTHUMP00000217364;actin filament-associated protein 1;actin filament-associated protein, 110 kDa APPROVED protein-coding ENSG00000196526 24017 09747 608252 REVIEWED 1317426 AFF1 AF4/FMR2 family, member 1 4 4 q21 88147177 88281215 + 87856154 88062206 + 1580863;6480464 7689231;18977325;17889710;17581865;17301807;17130830;16551973;16433901;16386788;16215946;16169901;15302935;15231748;15221006;14990976;14562113;12477932;11930009;11236948;10671636;9880680;9389682;9326653;9233580;8769569;8506309;8443374;8353274;1423625;19956800;20153263;14603337;15856011;20379614;19913121;20628086;20864672;21030982;21135858;20431927;23568457;23260655;23455922;22983539;20854876;21139048;21706045;20686565;22291604;22337994;21896721;21729782;21963094;23535033;20471949;22190034;22355797;22567366;23479570 4299 D6RAU0;D6RIZ5;E7EMC5;E7ETI4;F5GXF9;H0Y9S4;P51825;Q14C88 ABBA01063515;ABBA01063516;ABBA01063517;ABBA01063518;ABBA01063519;ABBA01063520;ABBA01063521;ABBA01063522;AC092658;AC093779;AC093827;AF024541;AF177236;AF177237;AF177238;AF177239;AJ238093;AK296149;AK296243;AK300364;AMYH01014371;AMYH01014372;AMYH01014373;AMYH01014374;BC017432;BC114930;CH471057;DC340279;L13773;L25050;NM_001166693;NM_005935;X83606;Z83689 AAA36642;AAA58360;AAC51815;AAD56887;AAD56888;AAF09191;AAF09192;AAH17432;AAI14931;AAY40899;BAG58888;BAG58961;BAG62103;CAA58585;CAB52416;CAB69660;EAX05978;EAX05979;EAX05980;NP_001160165;NP_005926;P51825 Hs.480190 1646180;1654918;1655517;1662462;1665281;1666071;1721525;1722611;1726975;1769569;1776920;1797156;1847367;2119385;2123407;2124581;2129685;2155035;2155345;2155347;2157120;2159943;2163266;2163268;2167529;2168468;2168544;2168763;2173505;2176816;2176936;2179691;2180487;2186419;5093302;5094382 A005C26;A009L09;D4S2815;G15939;G20273;G32639;G33553;G34498;G54645;G59617;G60389;G62734;MLLT2;RH36599;RH36611;RH70012;RH70771;SHGC-24811;SHGC-24815;SHGC-31229;SHGC-35046;SHGC-37108;SHGC-50346;SHGC-50561;SHGC-53296;SHGC-59250;SHGC-59252;SHGC-59260;SHGC-59691;SHGC-59856;SHGC-67605;SHGC-67615;SHGC-67793;SHGC-67822;STS-AA017260;WI-12383 AF-4;AF4;AF4-MLL;MGC134969;MLL/AF4;MLLT2;PBM1 AF4/FMR2 family member 1;ALL1-fused gene from chromosome 4 protein;OTTHUMP00000161178;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2;pre-B-cell monocytic leukemia partner 1;protein AF-4;proto-oncogene AF4 protein-coding ENSG00000172493 7135 08871 159557 VALIDATED 3457950 AFG3L2P1 AFG3 ATPase family member 3-like 2 (S. cerevisiae) pseudogene 1 8 8 8 p11.1 42052060 42076817 - 43221503 43246260 - 43102346 43127103 - 347028 ABBA01021196;AC022616;AMYH01018694;NG_016585 AFG3L2P APPROVED pseudo 24169 INFERRED 1345129 AFG3L1P AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene 16 16 16 q24.3 75104531 75132803 + 88566489 88594696 + 90038988 90067195 + 1580863;6480464 17101804;16344560;14702039;12477932;11549317;9545647;19578364;21555518;21832049 172 ABBA01014117;ABBA01014118;ABBA01014119;AC092143;AF329691;AF329692;AF329693;AF329694;AJ001495;AJ001496;AK056488;AK090856;AK091293;AK091727;AK097044;AK126911;AK127143;AK128352;AK128804;AL832984;AMYH01007941;BC021245;BC045753;BC077734;BM986843;DA707802;DB318727;NR_003226;NR_003227;NR_003228 BAC04933;BAC86848;BAG51729;BAG52327;BAG54393;CAA04792;CAA04793;CAH56313 Hs.534773 5022578;5037552 D1S1423;D8S2279 AFG3;AFG3L1;FLJ45200 afg3 atpase family gene 3-like 1 (yeast) APPROVED pseudo ENSG00000223959 314 04315 603020 VALIDATED 1318349 AFF3 AF4/FMR2 family, member 3 This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q11.2-q12 99530147 100125469 - 100163715 100759037 - 1580863;6480464 8555498;19240061;18622426;18616733;17554260;15815621;15704140;15489334;15146197;14702039;12743608;12477932;12203795;8889548;8662235;20453842;19359276;20072139;20219786;20379614;20444755;20498205;20431927;21330300;22983539;18029348;20854876;23028342 3899 C9J622;C9J847;C9JC67;C9JIB1;C9JMS1;C9JUC4;C9JUY1;C9JZ66;H7C3W3;H7C4C2;Q59F27;Q8NAP7 AB209634;ABBA01073935;ABBA01073936;ABBA01073937;ABBA01073938;ABBA01073939;ABBA01073940;ABBA01073941;ABBA01073942;ABBA01073943;AC010736;AC018690;AC073118;AC092667;AC093373;AC114793;AC133108;AK055117;AK091320;AK092327;AK290468;AK297407;AK308645;AMYH01010807;AMYH01010808;AMYH01010809;BC021283;BC036895;BC136579;BC144266;BI906088;BU740375;CH471127;CN409428;NM_001025108;NM_002285;U34360 AAA98763;AAH36895;AAI36580;AAI44267;AAY14792;AAY24187;AAY24278;AAY24315;BAC03864;BAD92871;BAF83157;BAH12572;EAX01854;EAX01855;EAX01856;EAX01857;EAX01858;EAX01859;NP_001020279;NP_002276;P51826 Hs.444414 1667874;1668112;1701610;1716281;1719991;1723835;1724161;1734930;1760037;1852193;2132429;2142742;2145727;2148837;2149568;2153899;2163548;2168799;2170981;2174022;2174670;5016478;5092914;5093684 A006S04;A009C10;A009U47;D2S1633E;D2S1695E;D2S1821;D2S1992;D2S2710;D2S2744;G16333;G16393;G32409;G32863;GDB:434012;RH104445;RH118653;RH121169;RH121214;RH123972;RH12868;RH18039;RH69575;SHGC-82826;WI-17152 LAF4;MLLT2-like AF4/FMR2 family member 3;MLLT2-related protein;OTTHUMP00000202880;OTTHUMP00000202881;lymphoid nuclear protein 4;lymphoid nuclear protein related to AF4;protein LAF-4 APPROVED protein-coding ENSG00000144218 6473 03272 601464 REVIEWED 1313183 AFG3L2 AFG3 ATPase family member 3-like 2 (S. cerevisiae) This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008] 18 18 p11 12319108 12367194 - 12328943 12377275 - 1580863;6480464;7240710 10395799;18029348;15489334;12477932;16169070;18769991;19615732;19748354;20208537;20354562;20562859;16251216;20725928;20877624;22252130;21832049;20186120;14623864;21827917;21900206;22022284;21139048;21890473;21595125;21080425;23000965 10939 K7EP56;Q8TA92;Q9Y4W6 ABBA01074016;AK129504;AMYH01008832;AMYH01008833;AMYH01008834;AP001029;AP005264;BC024282;BC065016;BU786821;BX091241;CH471113;DN993083;NG_023361;NM_006796;Y18314 AAH24282;AAH65016;CAB48398;EAX01551;EAX01552;NP_006787;Q9Y4W6 Hs.726355 1676360;1703260;1734546;2117610;2158833;2179779 D18S902E;RH104597;RH65391;RH75493;SHGC-36229;STS-N21031 FLJ25993;SCA28;SPAX5 AFG3 (ATPase family gene 3, yeast)-like 2;AFG3 ATPase family gene 3-like 2;AFG3-like protein 2;ATPase family gene 3, yeast;ATPase family gene 3-like 2;OTTHUMP00000162476;paraplegin-like protein;spinocerebellar ataxia 28 APPROVED protein-coding ENSG00000141385 315 05205 604581;610246;614487 REVIEWED 1601873 AFF4 AF4/FMR2 family, member 4 The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011] 5 5 5 q31 128341097 128429374 - 132238970 132327253 - 132211071 132299354 - 6480464 10588740;17389929;17081983;16344560;16189514;15489334;14702039;12477932;12065898;11355014;15856011;17643375;20159561;20379614;20471948;18029348;20431927;20153263;21330300;23251033;20854876;21139048;21906983;21963094;21873227;22779921;22483617;22094252;20471949;21242887;21360054;22190034;22355797;22567366;22952844 27125 C9JCE0;H7C319;Q9UHB7 AA706988;AB209547;ABBA01068790;ABBA01068791;ABBA01068792;ABBA01068793;ABBA01068794;AC004500;AC010240;AF161355;AF173886;AF197927;AF213987;AK024831;AK055638;AK126818;AK307407;AMYH01015617;BC025700;BC040454;BC063007;BC100287;BC137226;BC144538;BX537585;CH471062;DA934874;NG_030340;NM_014423 AAF18981;AAF28915;AAH25700;AAH63007;AAI00288;AAI37227;AAM00184;AAQ13633;BAD92784;EAW62301;EAW62302;EAW62303;EAW62304;EAW62305;NP_055238;Q9UHB7 Hs.519313;Hs.664840 1648298;1656168;1780506;1798570;1799244;1799342;1800848;1801428;1801700;1802524;1803702;1805842;1806688;1807492;1808938;1810328;1810914;1812502;1813074;1815868;1816448;1816616;1818068;1820836;1821638;1824006;1824166;1824870;1826494;1828756;1831600;1833182;1837188;1840052;1841674;1841916;1844574;2002280;2002282;2002284;2002286;2002288;2002290;2002292;2002294;2002296;2002298;2096592;2096594;2096596;2096598;2096600;2096602;2096604;2096606;2096608;2096610;2096612;2096614;2096616;2096618;2096620;2096622;2096624;2096626;2096628;2096630;2096632;2096634;2096636;2096638;2096640;2096642;2096644;2096646;2096648;2131364;2131464;2169635;2191249;2218196 AF5Q31__4262;ECD00124;ECD00470;ECD00520;ECD01287;ECD01588;ECD01729;ECD02148;ECD02757;ECD03872;ECD04301;ECD04718;ECD05452;ECD06156;ECD06455;ECD07258;ECD07556;ECD08974;ECD09266;ECD09350;ECD10090;ECD11494;ECD11905;ECD13099;ECD13179;ECD13534;ECD14361;ECD15505;ECD16937;ECD17733;ECD19760;ECD21210;ECD22034;ECD22160;ECD23501;MARC_16763-16764:1020874272:1;REN72052;REN72053;REN72054;REN72055;REN72056;REN72057;REN72058;REN72059;REN72060;REN72061;RH68797;SGC32016;SGC35217;STS-T96380;WI-18406;bac5076S;stSG601591;stSG601592;stSG601593;stSG601594;stSG601595;stSG601596;stSG601597;stSG601599;stSG601600;stSG601601;stSG601602;stSG601603;stSG601604;stSG601605;stSG601606;stSG601607;stSG601608;stSG601609;stSG601610;stSG601611;stSG601612;stSG601613;stSG601614;stSG601615;stSG601616;stSG601617;stSG601618;stSG601619;stSG601621 AF5Q31;MCEF;MGC75036 AF4/FMR2 family member 4;ALL1 fused gene from 5q31;ALL1-fused gene from chromosome 5q31 protein;OTTHUMP00000066209;major CDK9 elongation factor-associated protein APPROVED protein-coding ENSG00000072364 17869 09187 604417 REVIEWED 5132512 AGAP1-IT1 AGAP1 intronic transcript 1 (non-protein coding) 2 q37.2 236414395 236416210 + 100506749 ABBA01042561;AC012305;AMYH01011589;BX111890;XR_108380;XR_133330;XR_171354 Hs.684184 miscrna 41427 MODEL 1606470 AFMID arylformamidase 17 17 17 q25.3 72779839 72799987 + 73695038 73715377 + 76183398 76203782 + 6480464;6907045 19322201;14704851;12477932;21048031 125061 K7EIX3;K7EK09;K7ELV9;K7EMI4;K7EMM5;K7EPF8;K7EQK5;Q63HM1 ABBA01002939;ABBA01002940;ABBA01002941;AC087645;AMYH01008664;BC020920;BC132824;BC142973;BX648442;CH471099;NM_001010982;NM_001145526;NR_027083 AAI32825;AAI42974;ACE86948;ACE87637;ADR82911;CAH56149;EAW89509;EAW89510;NP_001010982;NP_001138998;Q63HM1 Hs.558614 1741169;1791804;5022200;5037552 D8S2279;GDB:178395;L18426;PMC126057P2 DKFZp686F03259;FKF;KF;KFA;MGC167063 KFase;N-formylkynurenine formamidase;OTTHUMP00000204722;OTTHUMP00000204725;kynurenine formamidase;probable arylformamidase protein-coding ENSG00000183077 20910 16478 VALIDATED 1352528 AFM afamin This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008] 4 4 q13.3 74566326 74588582 + 74347462 74369718 + 1580863;6480464 7517938;19046407;16740002;16335952;16199891;15952736;15489334;14760718;12477932;12463752;12063119;10400926;8755513;8648639;7875606;7035619;4041902;37276;19336561;20858448 173 P43652 ABBA01022992;AC108157;AC110752;AK290556;AMYH01014301;BC109020;BC109021;CH471057;L35486;L35497;L35498;NM_001133;U51243 AAA68197;AAA68198;AAA68199;AAC50720;AAI09021;AAI09022;AAY41051;BAF83245;EAX05682;NP_001124;P43652 Hs.168718 1340356;1678827;1794040;2142699;2163556 D4S1517;PMC310762P7;RH94242;SHGC-59867;STS-L32140 ALB2;ALBA;ALF;MGC125338;MGC125339 OTTHUMP00000160471;afamin;alpha-Alb;alpha-albumin APPROVED protein-coding ENSG00000079557 316 00073 104145 REVIEWED 1349982 AGAP10 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 10 10 q11.22 46611745 46635270 - 47191765 47213514 - 728127 C9JUY9;H7BY03;Q5T2P9 AC244230;AL391137;XM_001714786;XM_003846493 CAI12206;Q5T2P9;XP_001714838;XP_003846541 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF7;bA144G6.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10;OTTHUMP00000019523;centaurin, gamma-like family, member 7 protein-coding ENSG00000204172 23462 MODEL 1606558 AFTPH aftiphilin 2 2 2 p14 64597630 64666332 + 64604969 64673643 + 64751439 64820139 + 6480464 14665628;15758025;18815278;16964243;15811338;15489334;15302935;14702039;12477932;8889548;8125298;16344560;18029348;22990118;21900206 54812 B8ZZI9;Q53GW0;Q6ULP2 AA583062;AB073356;ABBA01075420;ABBA01075421;ABBA01075422;AC008074;AK000087;AK021899;AK024658;AK222821;AL833962;AMYH01010401;AY367088;BC022247;BC047529;BM668634;BX504505;CH471053;DA227019;DA815479;NM_001002243;NM_017657;NM_203437 AAH22247;AAH47529;AAR14726;BAA90936;BAB13930;BAB14949;BAD96541;BAE45715;CAE46209;EAW99937;EAW99938;EAW99939;EAW99940;EAW99941;NP_001002243;NP_060127;NP_982261;Q6ULP2 Hs.655167 1661358;1755355;1777096;1853950 A002Y40;A007I10;SHGC-142239;STS-AA034034 FLJ20080;FLJ23793;MGC33965;Nbla10388 OTTHUMP00000159936;OTTHUMP00000202186;OTTHUMP00000202187;aftiphilin;aftiphilin protein;putative protein product of Nbla10388 protein-coding ENSG00000119844 25951 10635 VALIDATED 736278 AFP alpha-fetoprotein This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008] 4 4 q13.3 74520797 74540356 + 74301933 74321492 + 1300268;1580863;2292039;2292042;2292040;2292037;2292041;2292038;6480464;6484113 12297623;17659325;1714107;17525908;18203521;68943;17932343 20149523;19383238;19362088;19343004;19241193;19225928;19206006;19160651;19038010;19003875;18802946;18657899;18609108;18577995;18563566;18551609;18485897;18479159;18466288;18354237;18422961;18316609;18407604;18194454;17852813;17535089;17465484;17433605;17275497;17237442;17197899;17188819;17175354;17175353;16892178;16882993;16869888;16627685;16203738;15993394;15906357;15849812;15489334;15305374;15280901;15265907;15040024;15028291;15001643;14714299;14622304;12835590;12804197;12615827;12503217;12499776;12477932;12361680;12176010;12167706;12006569;11861398;11788893;11764100;9891062;7684942;7532927;7524678;7519015;6193792;6192711;6192439;6187626;6085063;4138095;2580830;2474300;2445387;2436661;2414772;1709810;1703124;1371512;89900;80265;71198;70228;16169070;22391642;22672818;20363333;20495646;17626741;18184471;19093203;19184104;19197197;19426602;19437037;19457604;19494365;19501957;19574883;19615732;19785658;19968979;20070666;20101856;20414942;19593583;21083802;20796153;20740583;20532728;21169258;21235824;23342486;22362471;22561245;21438004;21083609;21155886;21312197;21592114;23020232;21170957;22535689;22559879;22152641;21059290;21965270;21301972;20571936;21745284;22294840;22471500;21411977;21365646;22524824;22147961;21793906;22116493;22252180;22469729;22150277;22472323;21952001;22935208;23282286;23300138;23322323;23395581;21988832;23169148;22521346;23038230;22366528;22233759;22709874 174 J3KMX3;P02771 ABBA01022991;AC108157;AK297669;AK297674;AK314817;AMYH01014300;BC027881;CH471057;M10949;M10950;M16110;NG_023028;NM_001134;V01514;Z19532 AAA51674;AAA51675;AAB58754;AAH27881;ABM81868;ABM85029;BAG37340;BAG60031;BAG60036;CAA24758;CAA79592;EAX05681;NP_001125;P02771 Hs.518808 1666324;1760057;1772963;2119459;2126442;2189369;5491493 D4S3144;MARC_15793-15794:1013620256:1;MARC_3052-3053:991936680:1;SHGC-107546;SHGC-50928;SHGC-59540;SHGC-67270 FETA;HPAFP OTTHUMP00000160480;OTTHUMP00000220440;alpha-1-fetoprotein;alpha-fetoglobulin;alpha-fetoprotein APPROVED protein-coding ENSG00000081051 317 00074 104150 REVIEWED 2301267 AGAP11 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 10 10 10 q23.2 82733499 82772961 + 88720478 88759940 + 88730498 88769960 + 14702039;12477932;11853319;16751776 119385 Q6P5Q0;Q8TF27 AB075855;ABBA01033689;AK097165;AL136982;AMYH01002903;BC062776;BC140762;CH471142;NM_133447 AAH62776;AAI40763;BAB85561;EAW80307;EAW80308;EAW80310;EAW80311;NP_597704;Q8TF27 Hs.511787 1681195;1778252;2184780;5111612;5113574;5124150 RH36848;RH40305;RH44360;RH44865;RH68273;RH93785 KIAA1975 AGAP-11;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 protein-coding 29421 VALIDATED 1319477 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q37 230115921 230747258 + 236067475 236698866 + 236402733 237040444 + 1580863;6480464;6907045 16341674;18003747;22453919;16079295;15892143;15381706;14702039;12967569;12640130;12477932;12388557;10470851;16751776;21832049;21900206;21926974;22688191 116987 B2RZG9;C9J8Z2;E7EUN2;F5GXM9;H7C0A7;H7C211;H7C3T5;Q9UPQ3 AB029022;ABBA01042565;ABBA01042566;ABBA01042567;ABBA01042568;ABBA01042569;AC012305;AC019047;AC064874;AC073989;AC079400;AF413078;AK001722;AK295520;AK300763;AMYH01011589;AMYH01011590;AMYH01011591;AMYH01011592;AMYH01011593;AMYH01011594;AY033765;BC060814;BC140856;BC167153;BC167157;BI868924;BM752978;CA446024;CB961699;CH471063;NG_030314;NM_001037131;NM_001244888;NM_014914 AAH60814;AAI40857;AAI67153;AAI67157;AAK56506;AAL04172;AAX88852;AAX88857;AAY14697;AAY24137;BAA83051;BAA91862;BAG58435;BAG62428;EAW71078;EAW71079;NP_001032208;NP_001231817;NP_055729;Q9UPQ3 Hs.435039 1335150;1335418;1659393;1665186;1667599;1668592;1681424;1689336;1697674;1706910;1714021;1717455;1721567;1727871;1757111;1762171;1762275;1765605;1771063;1783872;1784066;1784130;1784222;2117866;2156836;2166680;5093548;5094212;5127221 A009Q29;D2S1397;D2S1421;D2S2202;FB3D10;G32783;G33173;G54615;G59791;G63736;RH102352;RH119441;RH122231;RH12556;RH44862;RH48088;RH91277;SHGC-102168;SHGC-144496;SHGC-146059;SHGC-146098;SHGC-146130;SHGC-149056;SHGC-154430;SHGC-155949;SHGC-31743;SHGC-80943;STS-T94735;WI-22093 AGAP-1;CENTG2;GGAP1;KIAA1099;MGC71657;cnt-g2 AGAP-1;Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1;GTP-binding and GTPase-activating protein 1;OTTHUMP00000164398;OTTHUMP00000164399;OTTHUMP00000203179;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1;centaurin, gamma 2;centaurin-gamma-2;cnt-g2 APPROVED protein-coding ENSG00000157985 16922 16359 608651 REVIEWED 1344826 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 10 10 10 q11.22 42769421 42786619 - 45641056 45662927 - 46321050 46342921 - 737633;6480464 12477932 22990118 119016 K7ER91;Q96P64 AC012044;AF411132;AMYH01002311;AMYH01002312;AMYH01002313;AMYH01002314;AMYH01002315;BC048341;BC062366;BC171833;CH471160;NM_133446 AAH48341;AAL10290;EAW86657;EAW86658;EAW86659;EAW86660;EAW86661;EAW86662;EAW86663;EAW86664;NP_597703;Q96P64 Hs.656384 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF1;MRIP2 AGAP-4;ARF GTPase-activating protein;OTTHUMP00000019508;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4;centaurin, gamma-like family, member 1;centaurin-gamma-like family member 1 protein-coding ENSG00000188234 23459 16771 PROVISIONAL 1320096 AGA aspartylglucosaminidase Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010] 4 4 q34.3 178588918 178600585 - 178351928 178363657 - 1598773;1580863;6480464;7240710 1703489 1737774;2775174;2401370;19100247;18992224;16435229;15815621;15489334;15365992;14616088;12477932;11309371;10444340;9737998;9362483;9137882;8846222;8830180;8776587;8702913;8457202;8405810;8002961;7852406;7685790;6883788;2265705;2039475;2011603;1904874;1864600;1840528;1765378;1733831;1530592;1301945;1281977;15174051;16344560;8889548;18029348;21854356 175 H0Y8L9;H0Y9C7;P20933 AA490958;ABBA01070426;AC027627;AC078881;AK303370;AK312982;AMYH01014739;AW467768;BC012392;BM968469;CH471056;CR541715;CX869892;DA346002;DA905583;M60808;M60809;M64073;M64075;M64076;M83247;NG_011845;NM_000027;NM_001171988;NR_033655;S83096;U21273;U21274;U21275;U21276;U21277;U21278;U21279;U21280;U21281;X55762;X61959;X73071 AAA35901;AAA35902;AAA35903;AAA35904;AAA35905;AAA36215;AAB60655;AAD14424;AAH12392;AAY40915;ABM82279;ABM85460;BAG35819;BAG64427;CAA39288;CAA43958;CAA51529;CAG46516;EAX04712;EAX04713;EAX04714;EAX04715;NP_000018;NP_001165459;P20933 Hs.207776 1670048;1745417;1745425;1745427;1745429;1745433;1745435;1745437;2122105;5016570;5117805 D4S3226;GDB:607621;GDB:607635;GDB:607636;GDB:607637;GDB:607638;GDB:607643;GDB:607646;GDB:607647;GDB:607648;STS-X55330 AGU;ASRG;GA N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase;N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase;OTTHUMP00000218812;aspartylglucosylamine deaspartylase;glycosylasparaginase APPROVED protein-coding ENSG00000038002 318 01949 208400;613228 REVIEWED 7244932 AGAP2-AS1 AGAP2 antisense RNA 1 11181995;12477932;15146197 100130776 ABBA01026694;AC025165;AK301303;AMYH01004524;BC019026;BC039697;BC069024;CH471054;CN313469;NG_029755;NR_027032 BAH13454;EAW97052;EAW97053 Hs.656080 1645478;2168223 RH25384;STS-AA011041 miscrna ENSG00000255737 48633 VALIDATED 1353426 AGAP7 ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 10 10 q11.23 51134168 51156333 - 51464162 51486327 - 6480464 653268 Q5VUJ5 ABBA01050038;ABBA01050039;ABBA01050040;ABBA01050041;ABBA01050042;AL589822;AMYH01002691;AMYH01002692;NM_001077685;XM_003960859 NP_001071153;Q5VUJ5;XP_003960908 Hs.528346 5111612;5113574 RH36848;RH44360 AGAP-7;CTGLF4;bA109G10.1 AGAP-7;OTTHUMP00000019595;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7;centaurin, gamma-like family, member 4;centaurin-gamma-like family member 4 protein-coding ENSG00000204169 23465 PROVISIONAL 1321839 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 7 7 7 q36.1 145341154 145398859 + 150414759 150472456 + 150783826 150841523 + 1580863;6480464 16964243;16461359;15381706;14702039;14506264;12690205;12640130;12477932;21139048;21890473;21906983;16344560 116988 B3KNZ8;C9J975;E7ESL9;E9PAL8;H0Y873;H7C4F1;H7C4U6;H7C5G0;Q86XV5;Q96P47 AACC02000108;AB209781;ABBA01035163;ABBA01035164;ABBA01035165;AC010973;AF359283;AF413079;AK027415;AK055393;AK091771;AK096352;AL442089;AMYH01018143;AMYH01018144;BC020426;BC037543;BC044644;BC048300;BC069236;BU615528;CH471173;DA771207;NM_001042535;NM_001281300;NM_031946 AAH44644;AAH48300;AAK48932;AAL04173;ACE86452;ACE87128;BAB55097;BAC04766;BAD93018;BAG51510;CAC09448;EAL24502;EAW54024;EAW54025;EAW54026;EAW54027;EAW54028;EAW54029;NP_001036000;NP_001268229;NP_114152;Q96P47 Hs.647075 1666204;1852490;2145843;2191003 AF021133;GDB:4585228;MARC_12833-12834:1000491720:1;RH66056 AGAP-3;CENTG3;CRAG;FLJ16146;FLJ34452;MRIP-1;cnt-g3 AGAP-3;CRAM-associated GTPase;CRMP (collapsin response mediator protein) associated;MR1-interacting protein;OTTHUMP00000213333;OTTHUMP00000213334;OTTHUMP00000213335;OTTHUMP00000213336;OTTHUMP00000213337;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3;centaurin, gamma 3;centaurin-gamma-3;cnt-g3 protein-coding ENSG00000133612 16923 16707 VALIDATED 7244440 AGBL1-AS1 AGBL1 antisense RNA 1 15 q25.3 86840064 86860199 - 22961001;23400010 727915 ABBA01052977;AC025842;AMYH01006899;CD359326;DB459014;DB524499;NR_046012 Hs.451281 miscrna ENSG00000260125 48617 VALIDATED 1349110 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 q14.1 56405261 56422207 - 58118076 58135944 - 1580863;6480464;6907045 16344560;11136977;22389719;19318351;19176382;18487454;18469807;18374643;18371979;17461797;17297440;17151107;17037982;16841086;16263930;16150119;16079295;15951849;15489334;15118108;14761976;14702039;14528310;12640130;12477932;12388557;11823862;9192850;8724849;17891137;21833088;18029348;20551179;23527545;21460185;21847098;23438599;20368287;22349826;22505724 116986 F8VVT9;H0YHB1;J3KNM6;Q99490 ABBA01026694;AC025165;AF384128;AF413077;AK122827;AK292672;AMYH01004524;AV740795;AY128689;BC028020;BE280072;BI755875;CH471054;D79989;DB165417;NG_029755;NM_001122772;NM_014770;U81031 AAC39522;AAH28020;AAL04171;AAM97540;AAO39848;BAA11484;BAF85361;BAG53747;EAW97048;EAW97049;EAW97050;EAW97051;NP_001116244;NP_055585;Q99490 Hs.302435 1645478 RH25384 CENTG1;FLJ16430;GGAP2;KIAA0167;PIKE AGAP-2;Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2;GTP-binding and GTPase activating protein 2;GTP-binding and GTPase-activating protein 2;OTTHUMP00000243437;OTTHUMP00000243438;OTTHUMP00000243439;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2;centaurin, gamma 1;centaurin-gamma-1;cnt-g1;phosphatidylinositol 3-kinase enhancer;phosphatidylinositol-3-kinase enhancer;phosphoinositide 3-kinase enhancer APPROVED protein-coding ENSG00000135439 16921 05687 605476 REVIEWED 1349976 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 10 10 q11.23 51418356 51440263 + 51748078 51770259 + 12477932 414189 Q5VW22 AL442003;AMYH01002707;BC131545;NM_001077665 NP_001071133;Q5VW22 Hs.536158 5111612 RH36848 CTGLF3;bA324H6.1 AGAP-6;OTTHUMP00000019605;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6;centaurin, gamma-like family, member 3;centaurin-gamma-like family member 3 protein-coding ENSG00000204149 23466 VALIDATED 1348213 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 10 10 10 q22.2 68735106 68740871 - 75104037 75138147 - 75434033 75457554 - 12477932 729092 A6NIR3;J3KQL4 AC022400;AC073389;AMYH01002828;NM_001144000 A6NIR3;NP_001137472 Hs.651147 5111612;5113574;5124150 RH36848;RH40305;RH44360 CTGLF2 AGAP-5;OTTHUMP00000019826;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5;centaurin, gamma-like family, member 2;centaurin-gamma-like family member 2 protein-coding ENSG00000172650 23467 VALIDATED 6481033 AGBL4-IT1 AGBL4 intronic transcript 1 (non-protein coding) 100874313 AL356916;AL445527 miscrna 41482 1344869 AGAP8 ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 10 10 10 q11.23 42172068 42193907 + 50894694 50916541 - 51224688 51246535 - 12477932 728404 M0QZR1;Q5SRD3;R4GNB7 AL672187;AMYH01002610;AMYH01002611;AMYH01002612;NM_001077686;NM_001276343;NM_001276344 NP_001071154;NP_001263272;NP_001263273;Q5SRD3 1689109;1766243;1780476;5111612;5113574 RH36848;RH44360;RH68500;SHGC-149602;stbA746L15SP6 CTGLF5 AGAP-8;OTTHUMP00000019593;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8;centaurin, gamma-like family, member 5;centaurin-gamma-like family member 5 protein-coding ENSG00000174194 23464 VALIDATED 6481376 AGBL5-AS1 AGBL5 antisense RNA 1 100874031 AC013472 APPROVED miscrna 41133 1348214 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 10 10 q11.22 47834092 47857619 + 48215724 48237508 + 14702039;12477932 642517 Q5VTM2 AK096908;AK160375;AL591684;AMYH01002428;BC020871;BC032492;BC171845;BC171847;NM_001190810 BAD18718;NP_001177739;Q5VTM2 Hs.645346;Hs.742298 5015881;5016478;5022651;5096328;5109663;5111612;5113574;5124150 D11S2921;D7S2067E;GDB:335751;GDB:434012;RH36848;RH40305;RH44360;WI-15534 AGAP-9;CTGLF6;FLJ00312;bA301J7.2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9;OTTHUMP00000019531;arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9;centaurin, gamma-like family, member 6;centaurin-gamma-like family member 6 protein-coding ENSG00000198035 23463 VALIDATED 1345768 AGBL1 ATP/GTP binding protein-like 1 15 15 15 q25.3 63086740 63973544 + 84486246 85373287 + 86685242 87572283 + 18347602;16543943;16344560;14702039;12477932;20379614;21448238;21993531;22041458;22703881;22961001;23400010 123624 J3KQF5;J3QSZ9;Q96MI9 ABBA01052977;ABBA01052978;ABBA01052979;ABBA01052980;ABBA01052981;ABBA01052982;ABBA01052983;ABBA01052984;ABBA01052985;ABBA01052986;ABBA01052987;AC012229;AC016180;AC016987;AC018950;AC022817;AC025842;AC069197;AC078905;AC107978;AK056872;AMYH01006898;AMYH01006899;AMYH01006900;BC128152;CH471101;DA695799;DV080155;DV080218;DV080486;DV080541;DY655391;DY655510;NM_152336 AAI28153;BAB71299;EAX01983;EAX01984;NP_689549;Q96MI9 Hs.679833 1341978;1674236;1704914;1705318;1714461;1715297;1719915;1721161;1724865;1727407;1727763;1750339;1754855;1759159;1760081;1760593;1761951;1762181;1764397;1766451;1775176;1783308 D15S1030;D15S915;G59416;G63111;G63147;RH119196;RH119741;RH120479;RH124056;SHGC-107733;SHGC-112520;SHGC-141776;SHGC-144144;SHGC-145887;SHGC-146066;SHGC-147986;SHGC-149781;SHGC-150912;SHGC-79777;SHGC-79934;SHGC-83037;WI-18649 FLJ32310;MGC149239 ATP/GTP-binding protein-like 1;OTTHUMP00000195714;cytosolic carboxypeptidase 4 protein-coding ENSG00000166748 26504 07115 VALIDATED 1606202 AGBL4 ATP/GTP binding protein-like 4 1 1 1 p33 47284584 48775481 - 48825047 49283906 - 48998527 50489626 - 6480464 19240061;16710414;14702039;12477932;20379614 84871 B1AMW3;B1ANV5;B4DGK1;H0Y5X4;Q5VU57 ABBA01050789;ABBA01050790;ABBA01050791;ABBA01050792;ABBA01050793;ABBA01050794;ABBA01050795;ABBA01050796;ABBA01050797;ABBA01050798;ABBA01050799;ABBA01050800;AC092264;AC097062;AC099788;AC105766;AF075049;AK027348;AK094826;AK294394;AK294633;AK296221;AL031294;AL355809;AL356789;AL356916;AL390023;AL391844;AL445527;AL590432;AL591602;AL645507;AL645730;AMYH01000600;AMYH01000601;AMYH01000602;AMYH01000603;BC035739;BC126383;BC144171;CH471059;NM_032785 AAI26384;BAB55053;BAG52938;BAG57648;BAG57812;BAG58944;EAX06847;NP_116174;Q5VU57 Hs.551844;Hs.679809 1337883;1644337;1649885;1654341;1659343;1659808;1666755;1674410;1675107;1686464;1691978;1692240;1692252;1706908;1707028;1708040;1710086;1711110;1714185;1714499;1717323;1718747;1720091;1722189;1724473;1724773;1732818;1732880;1752693;1763379;1770232;1781452;1781652;1781780;1781790;1852293;1853532;2114884;2116701;2118139;2127932;2129843;2145266;2158958;2167134;2168145;2176657;2179783;2180154;2184451;5094312 AFM277XE1;AL009298;AL009543;AL009766;AL009768;AL009808;AL009844;AL009863;AL009928;AL009936;AL009952;AL010030;AL010111;AL033641;AL033781;AL033788;D1S1265;D1S1302;D1S1564;D1S2461;D1S2724;D1S3170;D1S3337;G19122;G54704;G60147;GCT16E08;RH119702;RH119761;RH122152;RH122402;RH122593;RH123062;RH123787;SHGC-106535;SHGC-112093;SHGC-147100;SHGC-154769;SHGC-155734;SHGC-156017;SHGC-31094;SHGC-67363;SHGC-74764;SHGC-74765;SHGC-80942;SHGC-81023;SHGC-81389;SHGC-83708;SHGC-86199;WI-11210;WI-15130 CCP6;FLJ14442 ATP/GTP-binding protein-like 4;OTTHUMP00000009460;OTTHUMP00000009778;cytosolic carboxypeptidase 6 protein-coding ENSG00000186094 25892 07487 VALIDATED 1605057 AGBL5 ATP/GTP binding protein-like 5 2 2 2 p23.3 27120838 27139834 + 27127995 27146994 + 27274491 27293490 + 6480464 16344560;14702039;12477932;11256614;16712791;19913121;20628086;20467438 60509 C9JCE1;C9JHM6;C9JQG9;C9JTY1;H7C1L5;Q9H6V0 ABBA01045192;AC013403;AC013472;AI990522;AK023398;AK025492;AK302091;AL833844;AMYH01010194;BC007415;BC018562;BC018584;BC062326;BC131498;CB155754;CH471053;DA901318;NM_001035507;NM_021831 AAH07415;AAI31499;AAX93164;AAY14655;BAB14560;BAB15151;BAH13623;CAD38704;EAX00649;EAX00650;EAX00651;EAX00652;EAX00653;NP_001030584;NP_068603;Q8NDL9 Hs.138207 1679487;2129913;2191009;2191449 MARC_12887-12888:999876636:1;MARC_23457-23458:1027109061:1;RH69213;RH80719 FLJ21839 ATP/GTP-binding protein-like 5;OTTHUMP00000192904;OTTHUMP00000194458;OTTHUMP00000228571;cytosolic carboxypeptidase-like protein 5 protein-coding ENSG00000084693 26147 07968 VALIDATED 1604170 AGBL3 ATP/GTP binding protein-like 3 7 7 7 q33 129408666 129558005 + 134321802 134386337 + 134671259 134820530 + 6480464 22610502;15489334;14702039;12853948;12477932;20379614;17244817;21784300 340351 C9JL97;F8W6Y5;F8W7R4;J3KQE2;Q8NEM8 AA707617;AACC02000025;ABBA01001112;ABBA01001113;AC083862;AC083870;AC090497;AK021841;AK023045;AK302827;AL832281;AMYH01017954;AMYH01017955;BC030651;CH236950;CH471070;NM_178563 AAH30651;BAB14371;BAH13813;EAW83837;EAW83838;NP_848658;Q8NEM8 Hs.648616 1663519;1677836;1687381;1853986;2107551;2148294;2175962;2176968;5022578;5024039 C031ZC1;D16S325;D1S1423;GDB:1317936;RH92031;RH99244;RNF14_797.2;SGC38374;WI-10741;WI-15609 FLJ12983;MGC32955 ATP/GTP-binding protein-like 3;OTTHUMP00000208040;OTTHUMP00000225513;cytosolic carboxypeptidase 3 protein-coding ENSG00000146856 27981 14175 PROVISIONAL 3476565 AGGF1P2 angiogenic factor with G patch and FHA domains 1 pseudogene 2 10 10 q26.3 135305480 135306488 + 135455591 135456399 + 644435 AL731696;AMYH01003243;NG_005569 1731663;2130080 D11S4416;D4S1620 pseudo 38052 INFERRED 1602682 AGBL2 ATP/GTP binding protein-like 2 11 11 11 p11.2 47828422 47883671 - 47637719 47692878 - 47681143 47736928 - 6480464 15489334;14702039;12738998;12477932;8125298;20308539;18029348;21303978 79841 E9PI49;E9PJH3;E9PR59;E9PRJ1;E9PS54;F6U0I4;H9KV53;J9JIH1;Q5U5Z8 ABBA01060693;ABBA01060694;ABBA01060695;ABBA01060696;ABBA01060697;AC021443;AK027251;AK056687;AK223171;AK223176;AK303066;AK303875;AMYH01003547;AMYH01003548;AMYH01003549;BC028200;BC036234;CH471064;NM_024783 AAH28200;AAH36234;BAB15707;BAD96891;BAD96896;BAG64183;BAG64813;EAW67889;EAW67890;EAW67891;NP_079059;Q5U5Z8 Hs.147377 1655519;1677989;1716915 RH121749;RH48286;RH99144 FLJ23598 ATP/GTP-binding protein-like 2;OTTHUMP00000229536;OTTHUMP00000229537;cytosolic carboxypeptidase 2 protein-coding ENSG00000165923 26296 08039 VALIDATED 3398757 AGGF1P1 angiogenic factor with G patch and FHA domains 1 pseudogene 1 4 4 q35.2 191199067 191201563 + 190962139 190965441 + 100132380 ABBA01158165;AF146191;AMYH01014803;NG_022094;U85056 1731663;2130080 D11S4416;D4S1620 pseudo 38051 INFERRED 3302159 AGGF1P4 angiogenic factor with G patch and FHA domains 1 pseudogene 4 16 16 16 p11.1 67008523 67009364 - 34481072 34484622 - 34623574 34624415 - 100129351 ABBA01002115;AC007353;AMYH01007635;NG_022503 pseudo 38054 INFERRED 2881504 AGGF1P3 angiogenic factor with G patch and FHA domains 1 pseudogene 3 3 3 3 p12.3 76446336 76448467 - 75785273 75787853 - 75702601 75704732 - 391552 ABBA01030989;AC108724;AMYH01013292;NG_022208 pseudo 38053 INFERRED 1350142 AGGF1 angiogenic factor with G patch and FHA domains 1 This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] 5 5 q13.3 76361988 76396794 + 76326210 76361059 + 737633;6480464 12477932 14961121;15486042;15905966;18564129;17103452;16911369;16443853;16189514;15489334;14702039;10737800;17332742;19556247;19615732;20360068;21576349;22990118 55109 H0Y8F8;Q8N302 ABBA01061975;ABBA01061976;AC008581;AI453097;AK001145;AK097255;AK289394;AMYH01015424;AMYH01015425;AW500409;AW958325;AY500994;AY500996;BC002828;BC015478;BC029382;BC032844;BC073864;BE077189;BI561566;BM998072;BX648120;CF994178;CH471084;DR157679;NG_027822;NM_018046;U84971 AAB60856;AAH02828;AAH15478;AAH29382;AAH32844;AAR97615;AAR97617;ADZ15761;BAA91519;BAF82083;EAW95787;EAW95788;EAW95789;NP_060516;Q8N302 Hs.634849 1657662;1669444;1678735;1722591;1744337;2110031;2174490;2176741 G31520;G60377;GDB:451724;HSC2RB032;RH103381;RH18441;SHGC-58119;VG5Q_9874 FLJ10283;GPATC7;GPATCH7;HSU84971;HUS84971;VG5Q;hVG5Q G patch domain-containing protein 7;OTTHUMP00000128327;angiogenic factor VG5Q;angiogenic factor with G patch and FHA domains 1;vasculogenesis gene on 5q protein APPROVED protein-coding ENSG00000164252 24684 07621 608464 REVIEWED 2794508 AGKP1 acylglycerol kinase pseudogene 1 Y Y Y q11.21 3736898 3739138 + 15260247 15262687 + 16750954 16753194 + 12815422;9847074 359793 ABBA01056972;AC010979;NG_002810;NG_028212 AGKY1 pseudo 37661 INFERRED 737312 AGER advanced glycosylation end product-specific receptor The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011] 6 6 p21.3 32256724 32260001 - 32148745 32152099 - 1566451;1625335;1625342;1625346;1625338;1625343;1625348;1625333;1625341;1331525;1300365;1625339;1300270;1580863;2325651;2325657;2325643;2325645;2325647;2325653;6480464;6767555;6767560;6767556;6767569;6784516;6767307;6784515;6767309;6767557;6767564;6767561;6767566;6767308;5508825;6767562;6767312;6767553;6767554;6767563;6784499;6784514;6784502;6767559;6767315;7245558;7244260;7243964;7244266;7244187;7244369;7244174;7245963;7244279;7245487;7243852;7243867;7245533;7244142;7245542;7243186;7244134;7244141;7245947;7243940;7244135;7242570;7244287;7243185;7244145;7244175;7243868;7243937;7244283;7243851;7244158;7244162;7244164;7243249;7244254;7244255;7245945;7245965;7243248;7243187;7243944;7244176;7245514;7245948;7245957;7243938;7243958;7243949;7243956;7243959;7244245;7244248;7244183;7244186;7245559;7243247;7243251;7244188;7245557;7245562;7243250;7207785;7245961;7244258;7245538;7243184;7244181;7244184;7244246;7244385;7245513;7245955;7244139;7244262;7245515 12606536;16283249;16505177;12874465;17374970;16456142;12618340;16728681;16757496;15118671;8751438;17343756;12808450;19142024;18420491;20398646;20195207;19910580;19018797;21941211;21652096;21939913;20668462;20835270;22698798;21418204;22513366;21906738;21347371;21542009;21270403;22578261;21663912;21511691;20133931;21993476;21920897;21450080;22795565;22552116;22745485;21629785;22146151;22476978;23497312;20801062;23396166;21533139;23146804;23091285;21680901;23304218;22924807;21856399;21822023;22669512;20353610;22528836;23396398;20685687;20541603;22038096;21643645;20627935;20185929;23164356;23593165;20056977;19542745;21811803;21738623;23251674;22698914;20040351;19759273;20606421;22828946;23576805;23529380;22093994;21593432;12651605;23369670;21607631;22475522;22883037;22036861;21802905;21412218;21432860;23677242;21470837;21099228;19735169;23587252;21870072;21704028;22467055;23046363;15666359;21458563;22491548;22305260;22761461;23069071;21683770;21041689;22644855;23630304;21947243;21796806;23698784;23002359;22915134;21813211;20554645;23403079;15539404 22509345;19587357;19501570;19448391;19440065;19380826;19380603;19332646;19285601;19284577;19277685;19275767;19252206;19217891;19217461;19204726;19183936;19167759;19143821;19143681;19103440;19071026;19061941;19032093;19005067;18987644;18977241;18952609;18948101;18926539;18922799;18854308;18825489;18796298;18789567;18777492;18775683;18701333;18698218;18689872;18667420;18660489;18657529;18645306;18615900;18606705;18603587;18595673;18593464;18576917;18575614;18550199;18519797;18480271;18477569;18458846;18438937;18431028;18427074;18421017;18355449;18339893;18322992;18302220;18279705;18279703;18256374;18245812;18231794;18179750;18089847;18080716;18079965;18079485;18078623;18058469;18050248;18046662;18032526;17924846;17714874;17700210;17661837;17660747;17640970;17639302;17613396;17601350;17593216;14580673;14574404;14571699;14501001;12941744;12935895;12909002;12859967;12837757;12671312;12651613;12598893;12579287;12495433;12477932;12477623;12475402;12070776;12029499;11961018;11884895;11811511;11739380;17592553;11700025;11375354;16061848;17474147;1378843;10835680;10399917;17560613;17549666;17536039;17512509;17508727;17497647;17434489;17425804;17405935;17355942;17345061;17343760;17237617;17224333;17218539;17172923;17170388;17158877;17035340;17024691;17004092;16969649;16969646;16954682;16954185;16899960;16847147;16644647;16493495;16440015;16374460;16286548;16271939;16166741;16159602;16127291;16052547;16037279;15986224;15944249;15942086;15942078;15930093;15926115;15915542;15911356;15896660;15893388;15803111;15798956;15790669;15663911;15599399;15555779;15547674;15489334;15448098;15289604;15247020;15239215;15213278;15203887;15180953;15170618;15155381;15127201;15053925;15052533;15033494;15019601;15009731;14747204;17588956;14704946;14656967;14617629;14595542;22509024;22382005;11007787;10521570;9812979;9734395;9195959;8787669;7887450;7835890;7713518;20650982;21540233;21137019;8889548;20414834;20504772;20507991;20512925;19376511;21325454;20684319;21254849;21472688;22354095;10391939;16716307;19129693;19133252;19386136;19439163;19451748;19530996;19571577;19576587;19578796;19591173;19616266;19635564;19659809;19672558;19679874;19766904;19786934;19815443;19820033;19822091;19851445;19876719;19890027;19906677;19909734;19944695;19945761;19948975;19998499;20010834;20010835;20028726;20031245;20051912;20112183;20171262;19405075;20028692;20578941;20630999;20372816;20410680;19088375;19201044;20215707;21067489;20627100;21086782;19913121;20359471;20485444;20522598;20567859;20568058;20628086;20726326;20739563;20928981;20492604;20943659;20631986;20537326;20074734;10531386;20359119;21208063;21282351;21365018;21298413;21089112;21357189;20847094;21197704;20701913;20947022;21072897;21127710;20595148;22983919;22315985;22337892;22633675;22652038;21832049;22339587;22460069;22417726;21311028;21617715;20685137;21080832;11282423;11334430;11457670;11586486;15666591;15748606;16305072;16788244;19023628;19248116;19834494;19902324;19924100;20023238;20093728;20732329;20817881;21067572;21303685;21316677;19087540;21472666;21257730;21278261;21565706;21844192;21389696;21511948;21609778;21965014;22837190;22900949;22964273;21297263;21317562;21527578;21211520;21254649;22490537;22965881;22920235;21512281;21829704;22211895;21771973;21945853;21115116;21865159;21990362;21126167;21749686;21872861;21914366;21978883;22025532;22206663;21576827;21767223;22072229;22116960;23236395;22012330;22154374;22402134;21521347;22114731;22137663;22194616;22264245;22366088;22405771;21871056;22553402;21724696;21736957;21861709;21947881;22027013;22229442;22353366;22386596;22427038;23206470;22835520;23144152;23275625;23426492;23071492;21706016;22771726;22785051;22860017;22860029;23288172;22960399;23421467;21450369;22863784;22987041;23284291;10601334;22843047;22777515;23284645;22097731;23628898;23103427;22189627 177 A7Y2U9;A8MS87;B0V177;B0V178;B0V179;B0V180;B4DNX3;B5A982;C0IP14;Q3L1R2;Q3L1R4;Q3L1R5;Q3L1R6;Q3L1R8;Q3L1S0;Q5SSZ2;Q5SSZ3;Q9Y3R3 AB036432;AB061668;AB061669;ABBA01038108;AF001095;AF065211;AF065212;AF208289;AF536236;AF536237;AF537303;AJ133822;AJ238896;AK298100;AK313178;AL662830;AL662884;AL845464;AMYH01016234;AY755619;AY755620;AY755621;AY755622;AY755623;AY755624;AY755625;AY755626;AY755627;AY755628;BC020669;BM971899;BX284686;BX927239;CH471081;CR812478;CR933878;CS300822;D28769;DQ104251;DQ104252;DQ104253;DQ104254;EU117141;EU428811;EU428812;EU428813;EU428814;EU428815;EU428816;EU826616;EU826617;EU826618;EU826619;EU826620;FJ545655;GU139370;GU139371;GU139372;GU139373;GU139374;GU139375;GU139376;GU139377;GU139378;GU139379;GU139381;GU139382;HQ148133;HQ148134;HQ148135;M91211;NG_029868;NM_001136;NM_001206929;NM_001206932;NM_001206934;NM_001206936;NM_001206940;NM_001206954;NM_001206966;NM_172197;NR_038190;U89336 AAA03574;AAB47491;AAD15888;AAD15889;AAG35728;AAH20669;AAQ10685;AAQ10686;AAQ10782;AAX07272;AAX07273;AAX07274;AAX07275;AAX07276;AAX07277;AAX07278;AAX07279;AAX07280;AAX07281;AAZ32412;AAZ32413;AAZ32414;AAZ32415;ABM84501;ABM87820;ABV03807;ACE78167;ACE78168;ACE78169;ACE78170;ACF47652;ACF47653;ACF47654;ACF47655;ACF47656;ACL80027;ADQ42256;ADQ42257;ADQ42258;ADQ42259;ADQ42260;ADQ42261;ADQ42262;ADV92535;ADV92536;ADV92537;BAA05958;BAA89369;BAC65465;BAC65466;BAG35995;BAG60385;CAB43094;CAB43108;CAK32486;EAX03610;EAX03611;NP_001127;NP_001193858;NP_001193861;NP_001193863;NP_001193865;NP_001193869;NP_001193883;NP_001193895;NP_751947;Q15109 Hs.534342 1678331;1679343;1681314;1683966;1745455;1792758;1793208;2160329;2161369;2161377;2190893 D3S4540;D6S1871;GDB:607721;MARC_10431-10432:999637141:1;PMC162222P2;PMC203021P1;RH40485;RH46823;RH65115;RH67947;STS-D60277 MGC22357;RAGE OTTHUMP00000029155;OTTHUMP00000029156;OTTHUMP00000174885;RAGE isoform NtRAGE-delta;RAGE isoform delta;RAGE isoform sRAGE-delta;advanced glycosylation end product-specific receptor;receptor for advanced glycosylation end products;receptor for advanced glycosylation end-products APPROVED protein-coding ENSG00000204305 320 02568 600214 REVIEWED 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) 7240710 179 323 1315293 AGFG2 ArfGAP with FG repeats 2 This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013] 7 7 7 q22.1 94866633 94895642 + 99974770 100003779 + 100136834 100165843 + 1580863;6480464 15489334;14702039;12690205;12477932;10613896;9799793;9303539;8889548;7568168;21832049;22558309;19149558;21358275 3268 A4D2D6;H7BZA5;O95081 AACC02000084;ABBA01013198;ABBA01013199;ABBA01013200;ABBA01013201;ABBA01013202;AC069281;AF015042;AK057758;AK090744;AK314954;AMYH01017738;BC009393;BC017329;BC047227;BF310674;BF314987;BU608908;CH236956;CH471091;NM_006076 AAD01550;AAH09393;AAH17329;BAG37459;EAL23829;EAW76522;EAW76523;EAW76524;EAW76525;NP_006067;O95081 Hs.521083 1788242;2155225;2168562;2182882 D7S3103;SHGC-30530;STS-T78086;WI-16019 HRBL;RABR HIV-1 Rev binding protein-like;HIV-1 Rev-binding protein-like protein;OTTHUMP00000209085;Rev/Rex activation domain binding protein-related;arf-GAP domain and FG repeat-containing protein 2;arf-GAP domain and FG repeats-containing protein 2;nucleoporin;rev/Rex activation domain-binding protein related APPROVED protein-coding ENSG00000106351 5177 04932 604019 REVIEWED 1321481 AGFG1 ArfGAP with FG repeats 1 The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 q36.3 228045286 228130548 + 228336888 228425938 + 1580863;6480464 7634337;11545741;7637788;18819912;18775314;17081983;16903783;15815621;15749819;15489334;14702039;14701878;14554087;12477932;12429849;10737800;10613896;10358091;9500467;9368759;9303539;9070945;8943370;8805303;8633082;16354571;11854271;20936779;18029348;19262425;8195203;22863883;21832049;22939629;21752912;22558309;21139048;21906983;21439320;11062555;19149558;19149559;21118098;21358275;21360055 3267 B8ZZY2;C9J2I0;H7C0S7;Q53R11 AA676544;ABBA01050181;ABBA01050182;AC097662;AC105286;AI742626;AI955214;AK097451;AK295030;AMYH01011542;BC030592;BC039332;BC045581;BC096272;BC096273;BC096274;BC096275;BE843894;BM474292;BQ016135;BX648387;CB990608;CH471063;DB456989;L42025;NM_001135187;NM_001135188;NM_001135189;NM_004504;X89478 AAC37580;AAH30592;AAH96272;AAH96273;AAH96274;AAH96275;AAX93270;AAY24254;BAG53473;BAG58086;CAA61667;EAW70871;EAW70872;NP_001128659;NP_001128660;NP_001128661;NP_004495;P52594 Hs.352962 1693538;1850421;1854019;2169291;2177077;2190809;2219814 HRB;HRB__6586;RH36613;SHGC-14347;SHGC-58449;WI-15569;WI-4486 DKFZp686I15205;HRB;MGC116938;MGC116940;RAB;RIP HIV-1 Rev binding protein;HIV-1 Rev-binding protein;OTTHUMP00000164242;OTTHUMP00000204059;OTTHUMP00000204060;OTTHUMP00000204061;OTTHUMP00000204062;Rab, Rev/Rex activation domain-binding protein;arf-GAP domain and FG repeat-containing protein 1;arf-GAP domain and FG repeats-containing protein 1;hRIP, Rev interacting protein;nucleoporin-like protein RIP;rev-interacting protein;rev/Rex activation domain-binding protein APPROVED protein-coding 5175 02918 600862 REVIEWED 1606863 AGMO alkylglycerol monooxygenase The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012] 7 7 7 p21.2 15219639 15581346 - 15206468 15568165 - 15239943 15601640 - 6480464 12690205;12477932;20571754;20613766;20081858;20419449;20643956;22220568;22399527;23251661 392636 H0Y3V1;H7C0E0;Q6ZNB7 AACC02000008;AACC02000009;ABBA01056614;ABBA01056615;ABBA01056616;ABBA01056617;ABBA01056618;ABBA01056619;ABBA01056620;ABBA01056621;ABBA01056622;ABBA01056623;AC004452;AC012061;AC091789;AC099412;AC099651;AK131284;AMYH01017085;AMYH01017086;BC108676;CH236948;CH471073;NM_001004320 AAI08677;BAD18458;EAL24290;EAL24291;EAW93665;NP_001004320;Q6ZNB7 Hs.670634 1335544;1676622;1711902;1760603;1764299;1771927;1854789;5022651;7183403 AFM074ZG5;D11S2921;D7S2340;D7S2557;G49562;RH92058;SHGC-144154;SHGC-147914 FLJ16237;MGC131748;TMEM195 OTTHUMP00000201582;alkylglycerol monooxygenase;glyceryl-ether monooxygenase;transmembrane protein 195 APPROVED protein-coding ENSG00000187546 33784 13362 613738 REVIEWED 1318183 AGMAT agmatine ureohydrolase (agmatinase) 1 1 p36.21 15771739 15784192 - 15898194 15911605 - 1580863;6480464;6907045 16710414;16511187;15489334;15028567;14702039;14648699;12477932;11914032;11804860;9758718;8125298;20563878;20379614;20808825;20877624;16341674;19322201;21803059;22939629 79814 Q9BSE5 ABBA01004706;ABBA01004707;AK130034;AK225366;AL121992;AMYH01000274;AY057097;BC005090;BM788254;CH471167;DN996958;NM_024758;U58668 AAH05090;AAL24446;ABM84456;ABM87745;EAW51735;EAW51736;EAW51737;EAW51738;NP_079034;Q9BSE5 Hs.461532 1654060;1699454;2151890;2170938;5014003;5015619;5017326;5020740;5020946;5024413;5037552;5095832 D11S3114;D17S1136;D8S2279;D8S377;L17809;L17877;L17971;RH103318;RH47164;SHGC-2619;SHGC-64014;SHGC-74260 FLJ23384 AUH;OTTHUMP00000002467;agmatinase, mitochondrial protein-coding 18407 12436 VALIDATED 1352363 AGK acylglycerol kinase The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012] 7 7 7 q34 135972707 136075841 + 140897693 141000678 + 141251078 141354209 + 6480464 18004883;17135245;16344560;16269826;15939762;15489334;15252046;14702039;12853948;12690205;12477932;8125298;21145461;16169070;19549252;20877624;19167051;20186120;21875946;23676499;21139048;21890473;21906983;22277967;22284826;22415731;22797925;23266196 55750 A4D1U5;E9PC15;E9PG39;F8WDD1;Q53H12 AACC02000020;ABBA01034104;ABBA01034105;ABBA01034106;ABBA01034107;ABBA01034108;AC004918;AC073878;AC099547;AJ278150;AK001704;AK222769;AK299131;AK304502;AMYH01017997;BC009775;BC022777;CH236950;CH471070;DB032353;NG_032079;NM_018238 AAH09775;AAH22777;AAS07537;AAS07538;BAA91848;BAD96489;BAG61184;BAG65310;CAB93536;EAL24020;EAW83972;EAW83973;NP_060708;Q53H12 Hs.743318 1672232;1679636;1786378;2121441;2128066;2144660 D7S1627;D7S2726;G31090;RH45804;RH80969;SHGC-171949 CATC5;CTRCT38;FLJ10842;MTDPS10;MULK OTTHUMP00000212223;OTTHUMP00000212224;OTTHUMP00000212226;acylglycerol kinase, mitochondrial;hAGK;hsMuLK;multi-substrate lipid kinase;multiple substrate lipid kinase APPROVED protein-coding 21869 08554 212350;610345;614691 REVIEWED 1314958 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 p21 100088228 100162167 + 100315640 100389579 + 1566516;1331525;1598779;1598784;1601129;1642741;1642743;2304191;6480464;6907045;7240710 8755644;15118671;9281456;807434;16705713;15180797;6449198;11766064 9691087;1374391;18924225;17915576;17908927;17047887;15886229;15489334;14718574;12477932;11924557;11378828;10982190;10925384;10571954;9490286;9412782;9332391;8990006;8954797;8702417;2295969;1505983;933239;21145461;15833157;19299494;19754354;19834502;20158661;20379614;18029348;20800603;20562859;20648714;20301788;22939629;22863883;21697133;18781797;21906983;22424883;21628590;23218918;21890473;21963094;22035446;22053931 178 Q9UF08 AB035443;AB208867;AB621804;ABBA01045447;ABBA01045448;AC096949;AK130308;AMYH01000824;AMYH01000825;BC020705;BC057220;BC078663;C00487;CH471097;M85168;NG_012865;NM_000028;NM_000642;NM_000643;NM_000644;NM_000645;NM_000646;U84007;U84008;U84009;U84010;U84011 AAB41040;AAB48466;AAB48467;AAB48468;AAB48469;AAB48470;AAH78663;BAA88405;BAD92104;BAK64140;EAW72980;EAW72981;EAW72982;EAW72983;EAW72984;EAW72985;EAW72986;EAW72987;NP_000019;NP_000633;NP_000634;NP_000635;NP_000636;NP_000637;P35573 Hs.904 1663791;1706818;1706904;2184556;2187597;2187643;5126262;5491761 AGL;AL009285;D1S2186;D1S3207;RH11727;SHGC-80886;SHGC-80940;WI-17303 GDE OTTHUMP00000012500;OTTHUMP00000012501;OTTHUMP00000012502;OTTHUMP00000012503;OTTHUMP00000012504;OTTHUMP00000012505;amylo-1, 6-glucosidase, 4-alpha-glucanotransferase;glycogen debrancher;glycogen debranching enzyme APPROVED protein-coding ENSG00000162688 321 01984 232400;610860 REVIEWED 1312105 AGO4 argonaute RISC catalytic component 4 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. [provided by RefSeq, Jul 2008] 1 1 1 p34 34548288 34595633 + 36046415 36093775 + 36273828 36323491 + 1580863;4144862;6480464 20484662 16094384;12906857;12526743;12414724;11329013;10997877;19470757;18771919;19167051;19393748;20146808;21832049;12477932;21906983;22318606;19383768 192670 Q9HCK5 AB046787;ABBA01023328;ABBA01023329;ABBA01023330;AK000040;AL354864;AL359186;AL831908;AMYH01000491;BC152450;BG186585;CA419947;CH471059;NM_017629 AAI52451;AAI60021;BAA90899;BAB13393;EAX07398;EAX07399;EAX07400;NP_060099;Q9HCK5 Hs.471492 1657682;1690562;1774857;2123559;5022322;5093290 A009K46;AL010009;D11S2560;G32631;RH80595;SHGC-74548 EIF2C4 OTTHUMP00000004431;argonaute 4;argonaute4;eIF-2C 4;eIF2C 4;eukaryotic translation initiation factor 2C, 4;hAgo4;protein argonaute-4 APPROVED protein-coding ENSG00000134698 18424 09559 607356 REVIEWED 1319350 AGO3 argonaute RISC catalytic component 3 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34 34671200 34796478 + 36169359 36294650 + 36396683 36522063 + 4144862;6480464 20484662 18771919;14702039;12906857;12526743;12477932;12414724;10997877;19470757;21145461;19167051;19393748;23064648;21634124;16196087;21906983;22474261;22318606;19383768 192669 B4E1P5;Q5TA56;Q9H9G7 AA251146;ABBA01023319;ABBA01023320;ABBA01023321;ABBA01023322;ABBA01023323;AK022827;AK027796;AK292870;AK302289;AK303929;AL138787;AL139286;AMYH01000492;BC025769;BC066888;BC144409;BF438817;BF979526;BX104163;CH471059;NM_024852;NM_177422 AAH66888;AAI56435;AAI72480;BAB14262;BAB55374;BAF85559;BAG63629;BAG64857;EAX07394;EAX07395;NP_079128;NP_803171;Q9H9G7 Hs.657659 1697882;1754811;2147155;2151124 RH102469;SHGC-141728;SHGC-74570;SHGC-74579 EIF2C3;FLJ12765;MGC86946 OTTHUMP00000008758;OTTHUMP00000008759;argonaute 3;argonaute3;eIF-2C 3;eIF2C 3;eukaryotic translation initiation factor 2C, 3;hAgo3;protein argonaute-3 APPROVED protein-coding ENSG00000126070 18421 09558 607355 REVIEWED 1312163 AGO1 argonaute RISC catalytic component 1 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. [provided by RefSeq, Jul 2008] 1 1 p34.3 36121397 36162486 + 36348810 36389899 + 1580863;4144862;6480464 20484662 12526743;10534406;19138993;19047128;18771919;18345015;17932509;17891150;17482383;16936728;16936726;16756390;16710414;15937477;15908945;15489334;15152257;14702039;12906857;12477932;12414724;12230974;10512872;9417904;23019594;19470757;21145461;19913121;20628086;20721975;20732906;20819778;20308539;18482256;19167051;19269368;19393748;19723326;19767416;19851984;19946268;20211803;22647351;22961379;21846468;16196087;21906983;22231398;22474261;21963094;21988832;22858679;23426184;22025453;19716330;17267406;17400507;18779327;20671708;19380743;19383768;21948796 26523 Q5TA58;Q9UL18 ABBA01023323;ABBA01023324;ABBA01023325;ABBA01023326;ABBA01023327;AF093097;AK000326;AK001622;AK002003;AK027611;AK314148;AL139286;AMYH01000491;BC063275;CH471059;CR936823;NM_012199;U92986 AAF00068;AAH63275;BAG36835;BAG50952;EAX07396;NP_036331;Q9UL18 Hs.22867 1660836;1700796;1745923;1771522;1771524;2114457;2121075;2217296 A006G35;EIF2C1_617;G20793;G64298;L18179;RH104023;SHGC-74590;SHGC-74594 DKFZp686M13167;EIF2C;EIF2C1;GERP95;Q99 Golgi Endoplasmic Reticulum protein 95 kDa;OTTHUMP00000008518;OTTHUMP00000008519;argonaute 1;argonaute1;eIF-2C 1;eIF2C 1;eukaryotic translation initiation factor 2C, 1;hAgo1;protein argonaute-1;putative RNA-binding protein Q99 APPROVED protein-coding 3262 06942 606228 REVIEWED 732767 AGO2 argonaute RISC catalytic component 2 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 8 8 q24 141610446 141714827 - 141541264 141645646 - 1580863;4144862;6480464 20484662 14749716;17495927;10534406;17524464;18771919;17671087;19324964;19167051;19159466;19138993;19064005;19061863;19047128;18981691;18946079;18787018;18690212;18591665;18476811;18222171;18178619;17932509;17891150;17881374;17531811;17382880;17116888;16936728;16756390;16699599;16611939;16357216;16301602;15937477;15908945;15800637;15489334;15284456;14970384;12906857;12526743;12477932;22682761;23077538;23091627;12414724;12230974;11914277;17938239;20721975;21383194;15973356;16424907;19393748;19458189;19508234;19536157;19625255;19723326;19784364;19801630;19820710;19851984;19946268;20211803;20385818;20402672;23636329;22163034;20146808;20308539;20696395;20197313;20505670;20198652;20395958;20237157;20699384;21177824;18669659;20924207;22318606;21071408;21552258;19560422;22961379;22647351;23019594;21148147;21241449;21423624;21634124;21868483;16196087;21840310;23143396;23258480;21903422;21964070;21769619;21846468;21951848;21969601;22055194;21535412;21139048;21562054;21906983;22215596;22233755;22474261;22539551;22366686;19322201;19647520;22394132;19470757;21145461;22014067;19716330;21963094;21988832;23245472;22858679;23400010;22025453;17267406;17400507;20671708;22791714;19380743;19383768;19838187;21948796;22851315;23201202 27161 A4FVC0;E5RGG9;E5RJY2;Q9UKV8 AA909234;ABBA01013673;ABBA01013674;AC067931;AC107375;AF121255;AI468419;AMYH01019067;AY077717;BC007633;BC018727;BC125213;BC125214;BT007229;CH471060;CS300529;NM_001164623;NM_012154 AAF13034;AAH07633;AAH18727;AAI25214;AAI60104;AAL76093;AAP35893;CAK32193;EAW92207;EAW92208;NP_001158095;NP_036286;Q9UKV8 Hs.743313 1341123;1662396;1671989;1685037;1700416;1762431;1779998 D8S1635;D8S1717;RH103829;RH45183;SHGC-146257;SHGC-154248;WI-11623 EIF2C2;MGC3183;Q10 OTTHUMP00000226229;OTTHUMP00000226251;PAZ Piwi domain protein;PPD;argonaute 2;argonaute2;eIF-2C 2;eIF2C 2;eukaryotic translation initiation factor 2C, 2;hAgo2;protein argonaute-2;protein slicer APPROVED protein-coding ENSG00000123908 3263 06943 606229 REVIEWED 3077880 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 Y Y p11.2 3221849 3222840 + 3161849 3162850 + 646231 ABBA01069784;AC006152;NG_028688 5023047 sY3020 pseudo 37709 INFERRED 1348475 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 6 6 p21.3 32243967 32253820 - 32135983 32145888 - 1580863;6480464;6907045 9461603;19143821;17707131;16870193;16571775;15489334;14702039;14656967;14574404;12477932;11487472;9450025;9291118;9212163;9110174;8619474;19851445;16341674;16344560;8944226;19322201;22359512;23088713;23362303;22797925 10554 Q99943;Q9HBM8 ABBA01038108;AF007145;AF218034;AI193422;AK056346;AK058025;AK129818;AK299252;AK315950;AL662828;AL662884;AL845464;AMYH01016234;BC002402;BC003007;BC004310;BC006818;BC090849;BM763275;BX284686;BX927239;CH471081;CR812478;CR933878;DA529681;DB118884;NM_006411;NM_032741;U56417;U75971;U89336;Y09565 AAB47493;AAB58775;AAB96378;AAC19153;AAG17276;AAH02402;AAH03007;AAH04310;AAH90849;BAG51685;BAG61283;BAH14321;CAA70758;EAX03599;EAX03600;EAX03601;EAX03602;EAX03603;EAX03604;EAX03605;EAX03606;NP_006402;NP_116130;Q99943 Hs.409230 1675331;2124218;2136027;2191639 D6S1154E;D6S1412;MARC_31849-31850:1068218042:1;RH91426 1-AGPAT1;G15;LPAAT-alpha;LPAATA;MGC4007;MGC5423 1-AGP acyltransferase 1;1-AGPAT 1;1-acyl-sn-glycerol-3-phosphate acyltransferase alpha;1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase);1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha);OTTHUMP00000029298;OTTHUMP00000029299;OTTHUMP00000029300;OTTHUMP00000029301;OTTHUMP00000029302;OTTHUMP00000174886;lysophosphatidic acid acyltransferase alpha;lysophospholipid acyltransferase APPROVED protein-coding ENSG00000204310 324 04372 603099 REVIEWED 1319453 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 9 9 q34.3 138687416 138701732 - 139567595 139581911 - 1580863;1598407;1598785;6480464;6907045;7240710 11967537 9461603;9242711;9212163;18698612;18155601;16870193;16435205;15841084;15629135;15489334;15181077;15146197;15028826;14602785;12477932;10487716;9291118;19226263;19278620;8944226;22872237;21152068;21176343;21890473;21906983;21873652;21987572;20301391;21963094;21988832;22902344 10555 O15120;Q96IS9 ABBA01022716;AF000237;AF011374;AL590226;AMYH01021869;BC000026;BC004529;BC007269;BC019292;BF347518;CH471090;CN407343;NG_008090;NM_001012727;NM_006412;U56418 AAB58776;AAB64299;AAC51649;AAH00026;AAH04529;AAH07269;AAH19292;ABM83072;ABM86268;EAW88249;EAW88250;EAW88251;EAW88252;NP_001012745;NP_006403;O15120 Hs.320151 1336577;1341252;1680032;2110245 AGPAT2_9138;D9S1818;D9S1826;RH41872 1-AGPAT2;BSCL;BSCL1;LPAAB;LPAAT-beta 1-AGP acyltransferase 2;1-AGPAT 2;1-acyl-sn-glycerol-3-phosphate acyltransferase beta;1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta);1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta);OTTHUMP00000022595;OTTHUMP00000022596;lysophosphatidic acid acyltransferase beta;lysophosphatidic acid acyltransferase-beta APPROVED protein-coding ENSG00000169692 325 04373 603100;608594 REVIEWED 1354001 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 q26 162280457 162424409 - 161471047 161615097 - 161551057 161695107 - 1580863;6480464;6907045 15367102;11487472;17474147;15489334;14574404;12975309;12477932;9828130;17207965;20379614;21906983 56895 B4DMU6;B4DSF9;G3XAF1;H0Y5R3;Q5TEE8;Q6AI25;Q9NRZ5 ABBA01015147;ABBA01015148;ABBA01015149;ABBA01015150;AF156776;AJ227890;AJ227891;AJ420473;AK074208;AK295025;AK295548;AK295826;AK297636;AK299721;AL109942;AL122123;AL832128;AMYH01016820;AMYH01016821;AY358506;BC013410;BC020209;BQ072907;CH471051;CR627395;NM_020133 AAF80338;AAH13410;AAH20209;AAQ88870;ADQ32161;BAG58081;BAG58454;BAG58643;BAG60008;BAG61621;CAH10489;EAW47577;EAW47578;EAW47579;EAW47580;EAW47581;EAW47582;EAW47583;NP_064518;Q9NRZ5 Hs.353175 1650530;1751979;1775020;2158527 RH46750;RH63713;SHGC-105981;WI-13958 1-AGPAT4;LPAAT-delta;RP3-473J16.2;dJ473J16.2 1-AGP acyltransferase 4;1-AGPAT 4;1-acyl-sn-glycerol-3-phosphate acyltransferase delta;1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta);OTTHUMP00000017554;lysophosphatidic acid acyltransferase delta;lysophosphatidic acid acyltransferase-delta (LPAAT-delta) APPROVED protein-coding ENSG00000026652 20885 12437 614795 REVIEWED 1348313 AGPAT4-IT1 AGPAT4 intronic transcript 1 (non-protein coding) 6 6 6 q26 162310546 162312414 - 161501136 161503006 - 161581146 161583014 - 6480464 15489334;14702039;14574404;12477932;11230166 79992 Q9H0P7 ABBA01015150;AK026765;AL136708;AMYH01016820;BC101668;BC112291;CH471051;NR_024277 BAB15545;CAB66643;EAW47584;Q9H0P7 Hs.664873 5493127 UniSTS:484386 C6orf59;FLJ23112;NCRNA00241 APPROVED miscrna 20988 12889 VALIDATED 1314029 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30390772 30513125 + 44109544 44231903 + 45285116 45407475 + 1580863;6480464;6907045 12107412;15367102;16620771;16780588;15489334;14702039;12975309;12477932;11487472;21173190;19635840;20379614;17207965;20537980;21832049;21890473;21906983;21829377 56894 C9J184;C9JK35;C9JL26;C9JQX8;Q9NRZ7 AB001523;AB040138;ABBA01074146;ABBA01074147;ABBA01074148;ABBA01074149;ABBA01074150;ABBA01074151;AF156774;AF156775;AK026135;AK074300;AK125804;AK300562;AL109795;AL355720;AL355721;AL832919;AMYH01012285;AMYH01012286;AP001053;AP001054;AY358704;BC004219;BC004413;BC011971;BC013167;BC026047;BC040603;BC063552;BM083518;BM476336;CD672915;CH471079;NM_001037553;NM_020132 AAF80336;AAF80337;AAH11971;AAH40603;AAH63552;AAQ89067;ADQ31993;BAB18943;BAB85042;BAC86299;BAG62268;CAD38635;EAX09461;EAX09462;EAX09463;EAX09464;EAX09465;NP_001032642;NP_064517;Q9NRZ7 Hs.248785 1341100;1644083;1688871;1690818;1735038;1763671;1768583;1776970;1850451;1851179;1858212;2143529;2151093;2151095;2163115;2163117;2167021;2177233;2187280;5016596;5017227;5020881;5022450;5022576;5022651;5109281;7186336 A001U44;A006H21;D10S275;D11S2921;D1S1361;D1S1425;D21S1259;D21S1730E;D21S1978;D21S2032;G19674;G20808;G34528;G34769;G38154;GDB:631802;L17709;RH79188;RH80899;RH93369;SHGC-147354;SHGC-51977;SHGC-52117;SHGC-52127;SHGC-87692;SHGC-87713 LPAAT-GAMMA1;LPAAT3;MGC4604 1-AGP acyltransferase 3;1-AGPAT 3;1-acyl-sn-glycerol-3-phosphate acyltransferase gamma;OTTHUMP00000109478;OTTHUMP00000109479;OTTHUMP00000109480;OTTHUMP00000109481;OTTHUMP00000109482;OTTHUMP00000109485;OTTHUMP00000109487;lysophosphatidic acid acyltransferase gamma;lysophosphatidic acid acyltransferase-gamma1 APPROVED protein-coding ENSG00000160216 326 10637 614794 REVIEWED 1347516 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 6543403 6596547 + 6553286 6606432 + 6565878 6619024 + 1580863;6480464 15367102;11487472;11256614;16620771;16381901;16341674;15489336;15489334;14702039;12477932;11230166;11076863;21173190;20379614;20877624;17549794;21890473;21906983;19322201 55326 E5RH21;H0YAW1;H0YC22;Q9NUQ2 ABBA01007056;AF287957;AF375789;AK002072;AK021722;AK310545;AL136587;AL514578;AMYH01018300;BC023550;BC068519;BC080537;BM837881;CA414711;CH471153;CQ834440;CQ834528;NM_018361 AAH23550;AAH68519;AAH80537;AAK54809;ABM84362;ABM87746;BAA92069;CAB66522;CAH05435;CAH05479;CAL37777;CAL37936;EAW80476;EAW80477;EAW80478;NP_060831;Q9NUQ2 Hs.624002 1644970;1695346;1756553;1850483;1852847;2107275;2163712 D8S1511;LPAAT-e__7430;RH18525;SHGC-143582;SHGC-64777;STS-N27164;WI-14718 1AGPAT5;LPAATE 1-AGP acyltransferase 5;1-AGPAT 5;1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon;1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon);OTTHUMP00000224507;lysophosphatidic acid acyltransferase epsilon APPROVED protein-coding 20886 12438 614796 REVIEWED 1606717 AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6 Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004] 8 8 8 p11.21 40384627 40431440 + 41554876 41597971 + 41435707 41482520 + 6480464;6907045 18238778;16713569;16625827;15489334;12975309;12938015;12477932;8944226;20181984;21906983 137964 E5RGW3;E5RHA6;E5RIA1;Q2TU73;Q86UL3 ABBA01021135;AC009630;AF317516;AF406612;AL834255;AMYH01018672;AY358670;AY513610;BC051377;BC061884;BU620295;CH471080;DB470455;GM839075;NM_178819 AAG33063;AAH51377;AAH61884;AAP21893;AAQ89033;AAS82774;CAD38930;CAT16184;EAW63253;EAW63254;EAW63255;NP_848934;Q86UL3 Hs.355753 1655098;1680130;1707066;1718565;1854001 A004O41;RH122486;RH93524;SHGC-81288;STS-H81989 1-AGPAT 6;DKFZp586M1819;LPAAT-zeta;LPAATZ;TSARG7 1-AGP acyltransferase 6;1-AGPAT 6;1-acyl-sn-glycerol-3-phosphate acyltransferase zeta;1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta);GPAT4;OTTHUMP00000225814;acyl-CoA:glycerol-3-phosphate acyltransferase 4;glycerol-3-phosphate acyltransferase 4;glycerol-3-phosphate acyltransferase 6;lysophosphatidic acid acyltransferase zeta;testis spermatogenesis apoptosis-related protein 7 APPROVED protein-coding ENSG00000158669 20880 12175 608143 VALIDATED 1348196 AGS1 Aicardi-Goutieres syndrome 1 7240710 10827106 27003 332 152700;192315;225750;610448 1350354 AGS2 Aicardi-Goutieres syndrome 2 7240710 497264 31917 102500;610181;610205 1606210 AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] 4 4 4 q21.23 81748096 81817458 + 84676677 84746050 + 84457067 84527028 + 6480464;6907045 17170135;17002884;15221005;14702039;12975309;12477932;8125298;20181984;21310131;19322201;16341674;16344560;21139048;21890473;21906983;23251661 84803 Q53EU6 AB075872;ABBA01063465;ABBA01063466;AC021192;AC096768;AK055749;AK223543;AMYH01014360;AMYH01014361;AY358100;BC006236;BC073136;BC090956;BM841009;CH471057;DA393801;DA673378;DQ324782;DQ345298;GM839137;HI574350;NM_001256421;NM_001256422;NM_032717 AAH73136;AAH90956;AAQ88467;ABC55674;ABC70186;BAB71002;BAD38654;BAD97263;CAT16202;CBX47664;EAX05944;EAX05945;EAX05946;NP_001243350;NP_001243351;NP_116106;Q53EU6 Hs.99196 1688967;2110559 MGC11324__7665;RH92406 AGPAT8;GPAT3;HMFN0839;LPAAT-theta;MAG1;MGC11324 1-AGP acyltransferase 9;1-AGPAT 9;1-acylglycerol-3-phosphate O-acyltransferase 8;GPAT-3;MAG-1;OTTHUMP00000160987;OTTHUMP00000160988;acyl-CoA:glycerol-3-phosphate acyltransferase 3;endoplasmic reticulum associated GPAT;glycerol-3-phosphate acyltransferase 3;hGPAT3;lung cancer metastasis-associated protein 1;lysophosphatidic acid acyltransferase theta;lysophosphatidic acid acyltransferase, theta APPROVED protein-coding ENSG00000138678 28157 14417 610958 VALIDATED 1346339 AGTBP angiotensin binding protein 184 334 732011 AGPS alkylglycerone phosphate synthase This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008] 2 2 q31.2 177965731 178112411 + 178257471 178408564 + 1300366;1598794;1580863;6480464;7240710 9553082;7407223 10215861;18571506;17601746;11330037;11152660;10683770;10553003;10415121;10384985;9266692;9187299;8125298;7807941;4031664;3646870;2464339;1495418;20379614;20562859;18029348;20877624;16756494;22939629;20972266;21139048;21890473;21525035;22002062;21990100;12477932;21987572;23752268;22190034 8540 B8ZZ81;O00116 AA832354;ABBA01062237;ABBA01062238;AC016762;AC019080;AC073834;AK296239;AK309714;AK314259;AK316240;AL359559;AMYH01011298;AY544121;BC141820;BQ007087;CH471058;CR749699;DC402978;NG_008968;NM_003659;Y09443 AAI41821;AAT11152;AAX93112;AAY14986;AAY24300;BAG36924;BAH12290;BAH14611;CAA70591;EAX11057;EAX11058;NP_003650;O00116 Hs.516543 1647688;2138837;2177671 RH65564;RH69481;WI-15756 ADAP-S;ADAS;ADHAPS;ADPS;ALDHPSY;DKFZp762O2215;FLJ99755 OTTHUMP00000163353;aging-associated gene 5 protein;aging-associated protein 5;alkyl-DHAP synthase;alkyldihydroxyacetonephosphate synthase, peroxisomal;alkylglycerone-phosphate synthase APPROVED protein-coding ENSG00000018510 327 04337 600121;603051 REVIEWED 736333 AGRP agouti related protein homolog (mouse) This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009] 16 16 q22 66073975 66075217 - 67516474 67517716 - 1625232;1331525;1300272;1625233;1580863;1357925;2314000;2311538;2314004;6480464;6484113;7240710 12213871;15118671;11344185;15054840;15189116;11554767;18001323;11179781 20164781;9311920;10318826;19285986;19077438;19058789;17197106;17180153;17041250;16904835;16820227;16568137;16320160;16314751;16280444;16130030;15978665;15597110;15546902;15489334;15121772;12815165;12477932;12153462;12056887;11747427;11602360;11487744;11326303;11196643;10371151;22492775;10366820;9893984;9892020;9751529;9724530;9354787;9119224;15927146;19602223;19942238;20404050;20468064;19770186;23118421;21531082;22477065 181 C6SUN5;O00253 ABBA01025438;AC009061;AF281309;AF314194;AMYH01007747;BC110443;BK006637;CH471092;DQ374394;NG_011482;NG_011501;NM_001138;U88063;U89485 AAB52240;AAB68621;AAI10444;AAK96256;AAL09457;ABC88473;DAA06531;EAW83137;NP_001129;O00253 Hs.104633 1678361;1794042;1794062;1794466;1794468;5017957;5493035 AGRP_s1;PMC310777P1;PMC310777P2;PMC314306P7;PMC314306P8;RH65050;UniSTS:483944 AGRT;ART;ASIP2;MGC118963 OTTHUMP00000174803;agouti-related protein 2289478 SLEP18_H APPROVED protein-coding ENSG00000159723 330 09079 601665;602311 REVIEWED 1606873 AGRN agrin This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011] 1 1 p36.33 945366 981355 + 955503 991499 + 6480464;6907045;7240710 1326608;22423096;9652404;9405491;15340048;9151673;19598235;19194276;19166823;18025246;17640714;16713569;16487930;16106752;16037493;15694127;15691710;15146197;14702039;12477932;12270958;12073527;12070669;8617505;1851019;1659950;8205617;22307776;22205389;20471664;19631309;19940118;9417121;17628813;21078624;21139048;20301347;17170699;23000965 375790 H0Y5U1;O00468 AB191264;ABBA01016009;ABBA01016010;ABBA01016011;AF016903;AK021586;AK125197;AK128761;AL645608;AMYH01000104;AMYH01000105;AMYH01000106;AMYH01000107;AMYH01000108;AMYH01000109;AMYH01000110;AW119098;AW204172;BC004220;BC007649;BC034009;BC063620;BC084578;BE383214;BF569502;BF740118;BQ892267;CH471183;CK000983;CN314674;CN314678;NG_016346;NM_198576;S44195;U84406 AAB23327;AAB52917;AAC39776;AAH04220;AAH07649;AAH34009;AAH63620;AAH84578;BAD52440;BAG51039;EAW56293;NP_940978;O00468 Hs.273330;Hs.602356 FLJ45064 OTTHUMP00000038465;agrin;agrin proteoglycan APPROVED protein-coding ENSG00000188157 329 10550 103320;254300 REVIEWED 1312142 AGR2 anterior gradient 2 7 7 p21.3 16797960 16811133 - 16832264 16844738 - 2325658;2325659;2325661;6480464 19714807;19609859;16598187 15340161;18973922;18829536;18801625;18029348;17694278;17457305;16713569;16551856;16222343;16189514;16169070;15935701;15834940;15489334;12975309;12853948;12690205;12592373;12477932;10965104;9790916;8125298;22072305;22231555;21454516;22752467;22467239;21281432;20550709;20945500;20525379;19359471;19834055;20048076;20403997;20877624;20888340;20525245;20299546;21144054;21200134;22748473;22521076;21948970;21151833;22430137;21768879;22184114;22659167;22025610;22147918;22945652;23402259;20706999;23382691;23386860;23438482;23220234;21832049;22828706;22911164 10551 B5MC07;C9J3E2;H7C3Z9;O95994;Q4JM46;Q4JM47 AACC02000008;ABBA01056635;AC073333;AF007791;AF038451;AF038452;AF087879;AF088867;AF115926;AK223067;AK296721;AK312942;AMYH01017094;AY359009;BC015503;BF680655;BT007048;CH236948;CH471073;CS488906;DQ070893;NM_006408 AAC77358;AAC82614;AAF22484;AAH15503;AAL54870;AAP22354;AAP35697;AAP97179;AAQ89368;AAY84773;AAY84774;AAY84775;AAY84776;ABM81571;ABM84751;BAD96787;BAG35784;BAG59310;CAM55980;EAL24283;EAW93682;EAW93683;NP_006399;O95994 Hs.530009 2121127 GDB:1318074 AG2;GOB-4;HAG-2;PDIA17;XAG-2 AG-2;HPC8;OTTHUMP00000116014;OTTHUMP00000201755;OTTHUMP00000201757;anterior gradient 2 homolog;anterior gradient 2 homolog (xenopus laevis);anterior gradient homolog 2;anterior gradient protein 2 homolog;protein disulfide isomerase family A, member 17;secreted cement gland homolog;secreted cement gland protein XAG-2 homolog APPROVED protein-coding 328 05896 606358 VALIDATED 1604981 AGR3 anterior gradient 3 7 7 7 p21.1 16879344 16901918 - 16865555 16888138 - 16899030 16921613 - 6480464 15489334;12975309;15935701;15340161;12690205;12592373;12477932;12477722;8889548;20219921;22361111;21451362;21988832;23386860 155465 B5MC62;H7C040;Q8TD06 AACC02000008;ABBA01056636;AC098592;AMYH01017094;AY069977;AY359065;BC058284;BG540617;BM984550;BU682778;CB242846;CH236948;CH471073;NM_176813 AAH58284;AAL55402;AAQ89424;EAL24282;EAW93685;NP_789783;Q8TD06 Hs.100686 5123716 RH66426 AG3;BCMP11;HAG3;PDIA18;hAG-3 AG-3;OTTHUMP00000158512;OTTHUMP00000201702;OTTHUMP00000201703;anterior gradient 3 homolog;anterior gradient homolog 3;anterior gradient protein 3 homolog;breast cancer membrane protein 11;protein disulfide isomerase family A, member 18 APPROVED protein-coding ENSG00000173467 24167 16545 609482 VALIDATED 1314853 AGTPBP1 ATP/GTP binding protein 1 NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002] 9 9 9 q21.33 58731693 58927167 - 87351275 87546709 - 88161454 88356944 - 6480464 16713569;15302935;14702039;12477932;11884758;11083920;10470851;17043677;21139048;21890473;15385968 23287 B4DHX2;Q5VZW3;Q5VZW6;Q9H9W8 AB028958;ABBA01034038;ABBA01034039;ABBA01034040;ABBA01034041;AJ420433;AJ437018;AK001544;AK022562;AK023280;AK024698;AK295304;AK295774;AK299506;AL157882;AL451131;AL833359;AMYH01021470;BC060815;BX648366;CA449535;CH471089;DC334722;NM_015239 AAH60815;BAA82987;BAA91749;BAB14100;BAB14505;BAG58284;BAG58598;BAG61460;CAD24587;CAH56158;CAH56222;EAW62694;EAW62695;EAW62696;EAW62697;EAW62698;EAW62699;NP_056054;Q9UPW5 Hs.719980 1337041;1643790;1665388;1679914;1735938;1773180;1773182;2150328;2163491;2170789;2218198 A005K03;A006N11;AGTPBP1__4266;D9S1067E;D9S1865;D9S1981;D9S954;G20277;RH11900;RH65354;RH99172 CCP1;DKFZp686M20191;KIAA1035;NNA1 ATP/GTP-binding protein 1;OTTHUMP00000021580;OTTHUMP00000021581;carboxypeptidase-tubulin;cytosolic carboxypeptidase 1;nervous system nuclear protein induced by axotomy;nervous system nuclear protein induced by axotomy protein 1 homolog;soluble carboxypeptidase;tubulinyl-Tyr carboxypeptidase;tyrosine carboxypeptidase APPROVED protein-coding ENSG00000135049 17258 08442 606830 VALIDATED 68977 AGTR1 angiotensin II receptor, type 1 Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012] 3 3 q24 149898348 149943480 + 148415658 148460790 + 1566498;1566499;1580863;737778;629553;1598885;1582124;1331525;1581825;1598878;1581847;1582152;737777;1601149;1601146;1601148;1601150;1601152;1601151;737809;737810;2292665;1642975;5129174;5129176;5133683;5147455;5129169;5147450;5129194;5129177;5129198;5147453;5129165;5129164;5147454;5147451;5147452;5129185;5147460;5129168;5147456;5147457;5129175;5129179;2316188;6480464;6903861;6903863;6903866;6903851;6903857;6903849;1303381;6903859;6903864;6903280;6903284;6907045;7240710 12975417;9857918;9466969;12446719;10994756;11295571;15118671;10977869;16116425;16141358;11100981;10639182;16109907;17211857;16519598;16061119;9456365;15612584;7724593;11877468;18421211;16565309;21367774;21346625;9287353;16796846;21040717;19332265;21078800;21326341;20886512;20080265;20560294;21319597;18500976;18451329;17877756;21282555;20621762;20723410;8181542;19080339;21357516;21303825;14559250;12172324;12089373;11819209;15930094;14982483;16725227;2;12495295;12077487;21102591;20042458 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185 D3DNG8;P30556;Q53YY0;Q6NUP5;Q8TBK4 ABBA01058952;AC024897;AF245699;AI016286;AI240900;AK291541;AMYH01013568;AV651073;AY221090;AY436325;BC022447;BC068494;CH471052;D13814;DA649921;EU332837;M87290;M91464;M93394;NG_008468;NM_000685;NM_004835;NM_009585;NM_031850;NM_032049;S70433;S77410;U07144;X65699;Z11162 AAA35535;AAA35569;AAA58370;AAB34644;AAF70464;AAH22447;AAH68494;AAO65968;AAR03503;ABM83314;ABM86527;ABY87526;BAA02968;BAF84230;CAA46621;CAA77513;EAW78905;EAW78906;EAW78907;EAW78908;EAW78909;NP_000676;NP_004826;NP_033611;NP_114038;NP_114438;P30556 Hs.477887;Hs.744837 1743075;1744251;1744477;1761909;1771995;1794290;1794792;2129334;2144495;2161925;2191109;5123332 GDB:251663;GDB:438967;GDB:455679;MARC_14779-14780:1010671130:1;PMC310924P4;PMC55900P1;RH11116;RH17842;RH48548;SGC38226;SHGC-12732;SHGC-145843 AG2S;AGTR1A;AGTR1B;AT1;AT1AR;AT1B;AT1BR;AT1R;AT2R1;AT2R1A;AT2R1B;HAT1R AT1AR;AT1BR;OTTHUMP00000215600;OTTHUMP00000215601;OTTHUMP00000215602;angiotensin II type-1 receptor;angiotensin receptor 1;angiotensin receptor 1B;type-1 angiotensin II receptor;type-1B angiotensin II receptor APPROVED protein-coding ENSG00000144891 336 00107 106165;145500;267430 REVIEWED 731070 AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. 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183 B0ZBE2;B2R5S1;P01019 AB209769;ABBA01033026;AK222798;AK222815;AK293507;AK303755;AK307978;AK312291;AL158214;AL512328;AMYH01001814;AU128714;AW128887;AY436323;BC011519;BF338744;BT006851;CH471098;DC412932;EU326304;K02215;M24689;M69110;NG_008836;NM_000029;S78529;S78530;T97863;W01494;X15324 AAA51679;AAA51731;AAA52282;AAD14287;AAD14288;AAH11519;AAP35497;AAR03501;ABM81942;ABM85122;ACA05910;BAD93006;BAD96518;BAD96535;BAG35218;BAG56991;BAG64725;CAA33385;EAW69918;EAW69919;NP_000020;P01019 Hs.19383 1681855;1689284;1694916;1716617;1794284;1856336;2117306;2160872;2179161;2181712;2218982 AGT_4206;G34823;G44347;PMC310924P1;RH11650;RH11822;RH121565;RH76317;RH91381;STS-H64380;WI-8965 ANHU;FLJ92595;FLJ97926;SERPINA8 OTTHUMP00000035878;alpha-1 antiproteinase, antitrypsin;angiotensin I;angiotensin II;angiotensinogen;angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8);pre-angiotensinogen;serine (or cysteine) proteinase inhibitor;serpin A8 APPROVED protein-coding ENSG00000135744 333 00106 106150;145500;267430 REVIEWED 736336 AGXT alanine-glyoxylate aminotransferase This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] 2 2 q37.3 241456835 241467210 + 241808162 241818536 + 1302510;1300367;1300048;1580863;6480464;6907045;7240710 8101040;2039493 2363689;15911627;12899834;15802217;3709805;1703535;7813517;19155213;18782763;18492492;18468259;18448374;18289107;17495019;17460142;17110443;16971151;16912707;15961951;15849466;15365967;15327387;15253729;12777626;12477932;12169688;11562405;11085934;10960483;10862087;10453743;10394939;9192270;8906307;8507692;8034295;2253628;2045108;22529745;1961759;1349575;1301173;17696873;19451220;15956068;16169070;19479957;19887726;20016466;20056599;20059472;20133649;20208150;20308030;16712791;20734048;20877624;20301460;20713123;20020206;21612638;21103899;22018727;22201765;22198249;21988832;23229545;3418107;20178365;20462248;9053548 189 P21549;Q9UJX1 AA857309;AB292648;ABBA01006034;AC104809;AF191687;AF348451;AK292754;AK298400;AK298420;AK315331;AK316495;AMYH01011626;BC132819;CB156891;CH471063;D13368;M61763;NG_008005;NM_000030;S71388;X53414;X56092;X74208;X74209 AAA51680;AAB20488;AAF05604;AAI32820;AAK30157;AAY24168;BAA02632;BAF46862;BAF85443;BAG37731;BAH12776;BAH12784;BAH14866;CAA37493;CAA39572;EAW71221;EAW71222;NP_000021;P21549 Hs.144567 1341596;1778065;5015961;5024756 D14S779;D15S1477;RH68691;RH80030 AGT;AGT1;AGXT1;PH1;SPAT;SPT;TLH6 L-alanine: glyoxylate aminotransferase 1;OTTHUMP00000164504;alanine--glyoxylate aminotransferase;hepatic peroxisomal alanine:glyoxylate aminotransferase;serine--pyruvate aminotransferase;serine-pyruvate aminotransferase;serine:pyruvate aminotransferase APPROVED protein-coding ENSG00000172482 341 05048 259900;604285 REVIEWED 1352542 AGXT2 alanine--glyoxylate aminotransferase 2 The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. [provided by RefSeq, Dec 2008] 5 5 5 p13 34880411 34930420 - 35033963 35083756 - 34998206 35048240 - 1580863;6480464;6907045 15342556;15240345;14702039;12477932;8125298;7592550;16344560;20018850;20877624;15956068;21572414;23023372;21931564 64902 E9PDL7;Q9BYV1 AB193309;ABBA01039261;AC010368;AJ292204;AK055732;AK055757;AK223128;AK223144;AK223375;AK296109;AK314691;AMYH01015023;BC144268;BC150603;BP277413;CH471119;DA633665;NM_031900 AAI44269;AAI50604;AAI56125;AAI56920;BAD66662;BAD96848;BAD97095;BAG37242;BAG51563;BAG51568;BAH12259;CAC24841;EAW55912;NP_114106;Q9BYV1 Hs.34494 1686997;1751383;1778058;2120132;2156050;2160971 D5S2573;RH17937;RH78189;RH99171;SGC33361;SHGC-105268 AGT2;DAIBAT (R)-3-amino-2-methylpropionate--pyruvate transaminase;OTTHUMP00000115997;OTTHUMP00000221043;alanine--glyoxylate aminotransferase 2, mitochondrial;beta-ALAAT II;beta-alanine-pyruvate aminotransferase APPROVED protein-coding ENSG00000113492 14412 10638 612471 REVIEWED 1350151 AGTRAP angiotensin II receptor-associated protein This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 p36.22 11718729 11733415 + 11796142 11810828 + 2314353;2314351;6480464 17875818;18725581 16710414;15757644;15668245;15489334;14985364;14559250;12960423;12477932;12107413;11733189;11162453;10358057;16189514;19913121;20628086;19060904;19430483;20018811;20541774;19805740;21423001;21728994;21139048;18029348 57085 D6RB40;D6RBK6;Q6RW13 ABBA01003057;ABBA01003058;AF165187;AF312374;AI741916;AK290042;AL953897;AMYH01000258;AY488088;BC011946;BC017328;BE782705;BI117521;BQ672962;CA866314;CD674964;CH471130;NM_001040194;NM_001040195;NM_001040196;NM_001040197;NM_020350 AAF89547;AAH17328;AAL26806;AAR25556;ABM83545;ABM86785;BAF82731;EAW71702;EAW71703;EAW71704;EAW71705;NP_001035284;NP_001035285;NP_001035286;NP_001035287;NP_065083;Q6RW13 Hs.464438 2123231;2216998 AGTRAP_3661;SHGC-32094 ATRAP;MGC29646 AT1 receptor-associated protein;ATI receptor-associated protein;OTTHUMP00000002269;OTTHUMP00000002270;OTTHUMP00000002271;OTTHUMP00000002272;OTTHUMP00000221109;OTTHUMP00000221110;OTTHUMP00000221111;angiotensin II, type I receptor-associated protein;type-1 angiotensin II receptor-associated protein APPROVED protein-coding ENSG00000177674 13539 16379 608729 REVIEWED 619558 AGTR2 angiotensin II receptor, type 2 The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010] X X q22-q23 115215986 115220253 + 115301958 115306225 + 1566502;1581855;1580863;1581825;1582118;1582124;1300276;1300274;1300275;2313550;2313551;2313554;2325641;5129169;5147457;5129175;5147454;5129179;6480464;6903848;6903849;6903850;6903863;6903868;6903284;6903853;6903855;6903857;6903860;6903861;6903866;6903882;6903847;6903859;6903843;6903844;6903851;6903873;6903867;6903870;6903900;6903283;6903875;6903845;6903846;6903874;6903872;1303381;6903280;6892717;6903865;6903372;6903905;6907045;7240710 14657020;15158138;10977869;16380540;11295571;12089445;7477267;10024874;18463192;18328310;15793237;11916627;21040717;19080339;21357516;18500976;21303825;18327089;16725227;16133060;12089373;18158356;20042458;15470205;15153562;14982483;12187255;12172324;11819209;20631980;18565281;12495295;19212419;15930094;22357959;21189405;22920387;9815151;20149750;22113494;19139720;18768398;22184331;22569153;2;21102591;21900645;11924718;19680135;19246705 19357319;12544508;8502225;18344519;17159079;17000928;17159080;15710780;10406457;15117835;7477266;7945336;19509012;19404281;19344625;19308748;19288324;19274051;19194560;19155782;19082699;19074441;19074439;19023273;18848837;18660489;18594540;18534055;18488444;18437528;18417209;18404604;18331441;18296263;18254975;18205097;18188697;18049304;17944121;17707359;17653210;17630322;17620959;17548686;17522061;17515833;17499413;17433630;17336987;17270098;17261659;17160213;16954165;16944335;16609364;16598200;16550310;16522324;16395664;16344560;16289034;16283672;16112405;16109806;16080803;15914614;15772651;15638358;15489334;15458433;15385810;15221785;15123706;15123577;15013333;15013322;15013293;14987254;14764974;14627490;14598163;12925562;12924622;12911547;12881481;12800945;12746399;12660887;12579398;12531525;12522467;12477932;12464615;12453540;12133421;11880254;11819093;11709400;11544438;11459796;11446495;11324803;11200871;11153734;11081769;11055978;11053482;10710290;9884335;9099917;8957548;8663053;8552595;8185599;7999093;7790004;7733925;7719706;1550596;11733189;19759061;19779016;19861345;19861347;19861349;19861351;19861352;19861353;17393691;18240029;19397700;19524223;19578796;19628789;19716087;19781541;19820429;19948975;19959718;19959996;19996275;20237496;20300066;20371166;20467270;20486282;15123239;22869520;20837730;20304486;20181281;18059164;2834384;19913121;20592051;20606419;20628086;18577758;20844184;21602797;20732682;20714875;22710646;21163866;21740964;21850060;21436209;21937042;22162314;21671168;23122839;22987376 186 AAB34100;P50052;Q6UVH2 ABBA01049276;ABBA01049277;AI911273;AK313927;AL732602;AMYH01022870;AY322542;AY324607;AY536522;BC095504;CH471234;CR541969;CR738498;DA538369;L34579;NG_016326;NM_000686;U10273;U15592;U16957;U20860;U27478;X87722;X87723 AAA50762;AAA61794;AAA67753;AAA84900;AAA85851;AAA98990;AAB34100;AAH95504;AAP72969;AAP84355;AAS45437;BAG36648;CAA61022;CAG46767;EAW51502;NP_000677;P50052 Hs.405348 1743601;1792538;2122040;2218200;5106122 AGTR2;AGTR2__4208;GDB:360300;PMC153509P1;STS-U20860 AT2;ATGR2;MRX88 OTTHUMP00000023878;angiotensin II type-2 receptor;type-2 angiotensin II receptor APPROVED protein-coding ENSG00000180772 338 02071 300034;300852 REVIEWED 1605826 AHCTF1P1 AT hook containing transcription factor 1 pseudogene 1 2 2 2 q24.2 155965950 155974538 - 162065281 162072656 - 162355678 162364313 - 14702039;21963094;21628590 285116 Q96M44 ABBA01004887;AC009487;AK057394;AMYH01011213;NR_077058 BAB71468 Hs.470435 1676802 RH26330 AHCTF1P;ELYS-like APPROVED pseudo 24620 VALIDATED 7207657 AHCYP1 adenosylhomocysteinase pseudogene 1 10 q11.22 47594379 47595653 + 340844 ABBA01033529;AL450388;AMYH01023485;NG_022175 pseudo 44993 INFERRED 7205519 AHCYP2 adenosylhomocysteinase pseudogene 2 9 q33.2 123482951 123484241 + 392387 ABBA01016245;AL138836;AMYH01021688;NG_021677 pseudo 44994 INFERRED 7205583 AHCYP5 adenosylhomocysteinase pseudogene 5 2 q32.3 196447517 196448755 - 391470 ABBA01062446;AC064834;AMYH01011380;NG_021544 pseudo 44997 INFERRED 7205585 AHCYP6 adenosylhomocysteinase pseudogene 6 11 q14 85568044 85570200 + 100419714 ABBA01017332;AP000974;NG_024541 pseudo 44998 INFERRED 7207589 AHCYP3 adenosylhomocysteinase pseudogene 3 2 q12.1 105011461 105012738 - 402093 ABBA01073881;AC068535;AMYH01010831;NG_021515 pseudo 44995 INFERRED 7205584 AHCYP4 adenosylhomocysteinase pseudogene 4 2 q22.1 139659006 139660317 - 129560 ABBA01028117;AC023468;AMYH01011132;NG_021526 pseudo 44996 INFERRED 1349401 AHDS Allan-Herndon-Dudley syndrome 193 345 7205587 AHCYP7 adenosylhomocysteinase pseudogene 7 15 q21.2 50709580 50710881 + 645486 ABBA01039113;AC012170;AMYH01006636;NG_022129 1668555;1697408;1770867;1851542;1853907;2114737;2170006;7183682 D15S1088;D15S1309;D15S957;D15S960;RH102204;RH78221;SHGC-57070 pseudo 44999 INFERRED 1603679 AHCTF1 AT hook containing transcription factor 1 1 1 1 q44 220298863 220391306 - 245069023 245148302 - 247002400 247094726 - 6480464 17098863;17081983;16964243;16565220;15489334;14702039;12477932;11952839;18029348;19454010;22955883;19471022;21963094;19596686;20360068;21628590;22586326;22505724;22555603 25909 C9J5C5;H7C4S1;Q8WYP5 AB059277;ABBA01031773;ABBA01031774;AC113174;AF173978;AK091364;AK091510;AK095398;AK122844;AL080144;AL832213;AL833491;AMYH01001907;AY157619;BC012307;BC030564;BC047361;CH471148;NM_015446 AAH12307;AAI56055;AAN65622;AAQ13621;BAB78516;BAG52342;BAG53044;BAG53757;CAB45737;EAW77165;EAW77166;EAW77167;EAW77168;NP_056261;Q8WYP5 Hs.300887 1676802;1715483 RH120984;RH26330 DKFZp434N093;ELYS;MST108;MSTP108;TMBS62 ELYS transcription factor like protein TMBS62;ELYS transcription factor-like protein TMBS62;OTTHUMP00000038418;OTTHUMP00000038419;embryonic large molecule derived from yolk sac;protein ELYS;putative AT-hook-containing transcription factor 1 protein-coding ENSG00000153207 24618 09935 610853 VALIDATED 1603658 AHDC1 AT hook, DNA binding motif, containing 1 1 1 1 p36.13 26256416 26325804 - 27733343 27802730 - 27860756 27930143 - 6480464 16713569;15146197;12477932;9110174;8619474;21832049;22558309;21139048;20562864 27245 Q5TGY3 ABBA01034979;ABBA01034980;ABBA01034981;ABBA01034982;ABBA01034983;AK125431;AL031729;AMYH01000422;AMYH01000423;BC002677;BC014394;BC064935;BM989685;CH471059;CN371147;NM_001029882;U79259 AAB50205;AAH02677;AAH14394;AAI52908;BAC86163;EAX07751;EAX07752;NP_001025053;Q5TGY3 Hs.469280 1648409;1671424;1692666;1733086;5092898 A009C01;AL034084;D1S1421;G32400;SHGC-33185 CL23945;DJ159A19.3;RP1-159A19.1 AT-hook DNA-binding motif-containing protein 1;OTTHUMP00000003476;OTTHUMP00000003600;a.T hook DNA-binding motif-containing protein 1 protein-coding ENSG00000126705 25230 10885 VALIDATED 1320280 AHCYL1 adenosylhomocysteinase-like 1 The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 p13.2 110328831 110367887 + 110527387 110566364 + 1580863;6480464;6907045 19220705;16769890;16754674;16710414;15951569;15489334;12878157;12525476;12477932;11904675;10070969;9110174;8619474;7782076;19019082;21242704;19615732;20584908;21317537;22863883;22939629;22990118;19322201;21139048;21906983;22012331;22826361;21956116;22505724 10768 O43865;Q9UI76 AA427939;AA865152;ABBA01068385;AF035319;AF090905;AF315687;AK131563;AK303690;AK308080;AK313392;AK316110;AL049954;AL772411;AMYH01000940;BC003631;BC007576;BC010681;BC016942;BC065254;BC095476;BC110896;BC111563;BK005417;BK005418;BQ774807;CF456195;CH471122;DC328766;DC329490;FB775494;NG_029182;NM_001242673;NM_001242674;NM_001242675;NM_001242676;NM_006621;U82761 AAB88189;AAC01960;AAF24028;AAH03631;AAH07576;AAH10681;AAH16942;AAH65254;AAH95476;AAI10897;AAI11564;AAI40415;AAI46493;AAL26869;ABM81947;ABM85127;ACE86597;ACE87278;BAD18696;BAG36190;BAG64680;BAH14481;CAB43223;CAH70965;CAH70966;CAV30704;DAA05762;DAA05763;EAW56422;EAW56423;EAW56424;EAW56425;EAW56426;EAW56427;NP_001229602;NP_001229603;NP_001229604;NP_001229605;NP_006612;O43865 Hs.743973 1688388;2153368;2161112;5113230 RH101839;RH65027;RH93356;SHGC-75272 DCAL;IRBIT;PRO0233;XPVKONA DC-expressed AHCY-like molecule;OTTHUMP00000013376;OTTHUMP00000013377;S-adenosyl homocysteine hydrolase homolog;S-adenosyl-L-homocysteine hydrolase 2;S-adenosylhomocysteine hydrolase-like 1;S-adenosylhomocysteine hydrolase-like protein 1;adoHcyase 2;dendritic cell expressed AHCY-like protein;inositol 1,4,5-trisphosphate receptor-binding protein;putative adenosylhomocysteinase 2 APPROVED protein-coding ENSG00000168710 344 07613 607826 REVIEWED 731745 AHCY adenosylhomocysteinase S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 20 20 q11.22 32331737 32354784 - 32868071 32899608 - 1598896;1598897;1300368;1598898;730275;1601153;1580863;1300048;6480464;6907045;7242932;7240710;7242425;7242426 12208805;11575573;15024124;11123369;11741948;16815886;2292587;23073625;20814827 21110914;2596825;17353931;19161160;19048631;18978678;18769049;18713839;18683034;18635682;18522500;18427977;18393535;18211827;17892301;22939629;17688412;17447732;17172447;17164794;17097637;17081065;15489334;15241484;14702039;12590576;12477932;12369977;12069606;12063172;11780052;10933798;9586999;7786017;7608178;7079734;6586634;6580258;2574561;715439;309884;21145461;21319273;16344560;19619139;19683694;20392501;20458436;23079506;20308539;19913121;20615890;20628086;20634891;22863883;20391533;15161933;18781797;20360068;21081666;21139048;21890473;21906983;21963094;21987572;16196087;19135240;21988832;22304920;22323290;23000965;22023331;21044950;21628590;21853274;22190034;22505724 191 P23526 ABBA01019205;ABBA01019206;AK097610;AK290422;AK300014;AK309204;AK316180;AL356299;AMYH01011862;BC010018;BC011606;BC114924;BE785593;BT006697;CH471077;DB043400;DC301059;DC413105;M61831;M61832;NG_012630;NM_000687;NM_001161766 AAA51681;AAA51682;AAH10018;AAH11606;AAI14925;AAP35343;ABM82627;ABM84656;ABM86323;ABM92186;BAF83111;BAG53495;BAG61829;BAH14551;EAW76279;EAW76280;EAW76281;NP_000678;NP_001155238;P23526 Hs.388004 1654636;1695036;1854331;2109027;2125055;5117174 AHCY__4267;D20S1115;G44732;GDB:451613;STS-M61832;STS-R64115 SAHH;adoHcyase OTTHUMP00000030684;S-adenosyl-L-homocysteine hydrolase;S-adenosylhomocysteine hydrolase;adenosylhomocysteinase;adoHcyase APPROVED protein-coding ENSG00000101444 343 01621 180960;613752 REVIEWED 1601771 AHCYL2 adenosylhomocysteinase-like 2 The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 7 7 7 q32.1 123661585 123866795 + 128652100 128857288 + 128864855 129070052 + 6480464;6907045 16865262;16344560;15489334;12477932;10048485;20694014;19615732;21139048;21906983;22228203;22890011;22505724 23382 C9JZV7;C9K0S0;D7UEQ7;F8W7N8;H0Y8B3;Q96HN2 AACC02000035;AB020635;ABBA01057635;ABBA01057636;ABBA01057637;ABBA01057638;ABBA01057639;ABBA01057640;ABBA01057641;AC009244;AC011005;AC083866;AC093149;AK025372;AK295851;AK316073;AMYH01017929;BC008349;BC024325;BG700017;CH236950;CH471070;DA429263;DA890615;NG_029180;NM_001130720;NM_001130722;NM_001130723;NM_015328 AAH08349;AAH24325;BAA74851;BAG58657;BAH14444;EAW83716;EAW83717;NP_001124192;NP_001124194;NP_001124195;NP_056143;Q96HN2 Hs.600789 1646958;1659537;1674057;1676748;1680393;1739195;1849864;2139049;2139105;2154162;2174629 D7S1541;D7S2962;D7S2964;D9S1647;GDB:1318262;IB809;RH27244;RH66343;RH69923;SHGC-31135;WI-20538 ADOHCYASE3;FLJ21719;KIAA0828 OTTHUMP00000212356;OTTHUMP00000212357;OTTHUMP00000212358;OTTHUMP00000212359;OTTHUMP00000214495;S-adenosyl-L-homocysteine hydrolase 3;S-adenosylhomocysteine hydrolase-like 2;putative adenosylhomocysteinase 3 APPROVED protein-coding ENSG00000158467 22204 11113 REVIEWED 1345625 AHNAK AHNAK nucleoprotein 11 11 q12.2 61957592 62070908 - 62201016 62314332 - 1580863;6480464 16712791;21319273;1608957;18334579;16984913;16582619;16319140;15177040;15033986;15001564;14702039;12477932;12153988;11746675;11535620;11312263;10737800;7987395;7789175;14625392;15607035;17207965;16417406;20029029;19394292;22939629;21182205;22863883;22937058;23182705;19471022;22057634;19596686;20360068;21940993;21987572;21139048;21890473;21906983;22586326;16009940;21044950;23144326;19738201;19805454;21963094;22304920;23000965;23275167;19380743;23409183;22940583 79026 B4DTV0;E9PJC6;E9PJZ0;E9PKR9;E9PLK4;E9PQE3;Q09666;Q9BVU3 ABBA01003224;ABBA01003225;ABBA01003226;ABBA01003227;ABBA01003228;AK091153;AK095346;AK128868;AK300376;AMYH01003688;AMYH01003689;AMYH01003690;AP001363;AP003064;BC000926;BC012477;BC017483;BC128460;BE873999;BF094607;BF761997;BQ448690;CB129722;CH471076;CN482151;M80899;M80902;NM_001620;NM_024060;X74818 AAA69898;AAA69899;AAH00926;AAH12477;AAI28461;ADQ32850;ADZ15763;BAC03596;BAC87652;BAG62112;CAA52817;EAW74019;NP_001611;NP_076965;Q09666 Hs.502756 1656978;1736158;1850617;1855179;1856398;2153100 AHNAK;D11S2237E;RH17740;RH46547;RH66240;SHGC-15247 AHNAKRS;MGC5395 AHNAK-related;OTTHUMP00000236155;OTTHUMP00000236448;OTTHUMP00000236450;OTTHUMP00000236451;ahnak nucleoprotein (desmoyokin);desmoyokin;neuroblast differentiation-associated protein AHNAK protein-coding ENSG00000124942 347 14684 103390 VALIDATED 1320178 AHNAK2 AHNAK nucleoprotein 2 14 14 14 q32.33 85457805 85498909 - 104474636 104515739 - 105403591 105444694 - 6480464 15007166;14702039;12477932;22863883;22939629;21139048;21906983 113146 Q8N3G4 AB095939;ABBA01008850;AK094143;AK095704;AK126472;AL512802;AL834367;AMYH01006071;BC004283;BC011859;BC033372;BC049216;BC090889;BC144467;BX537923;BX538040;BX538106;BX538133;NM_138420 AAH11859;AAH33372;AAH49216;AAH90889;BAC23115;CAD39030;CAD97904;CAD97981;CAD98019;CAD98034;NP_612429;Q8IVF2 Hs.441783 1689704;1776376;1850985;2139634 NIB978;RH75636;SGC34658;WI-3672 C14orf78;KIAA2019 OTTHUMP00000244370;chromosome 14 open reading frame 78;protein AHNAK2 protein-coding ENSG00000185567 20125 608570 VALIDATED 1348620 AHI1 Abelson helper integration site 1 This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 6 6 q23.3 135646817 135860576 - 135605110 135818903 - 1598905;6480464;7240710 16155189 14702039;19342780;18936234;18785627;18782849;18633336;18227995;18054307;17668382;17473831;17409309;16773125;16453322;16381901;16240161;15489336;15489334;15467982;15322546;15169551;15060101;14751929;14574404;12477932;12186888;11230166;11076863;8125298;22745667;20452750;20683928;20580033;20805890;19191019;20045148;20071346;20371615;20379614;21068128;19379585;23028714;22183070;22123816;21833088;22285701;19322201;20301500;22623184;23171462;23446755;23532844 54806 E9PI51;E9PML3;G8JLN6;H0Y343;H0YDL1;H0YE01;H0YEF1;Q8N157;Q8NER0;Q9NQN3 ABBA01025840;ABBA01025841;AI300295;AJ459824;AJ459825;AJ606362;AK000076;AK024085;AK092262;AK225210;AL023693;AL049552;AL133544;AL136797;AMYH01016693;AMYH01016694;AMYH01016695;AY133243;BC015019;BC029417;BC039559;BC050607;BC065712;BC094800;BX643029;CH471051;DQ090887;NG_008643;NM_001134830;NM_001134831;NM_001134832;NM_017651 AAH29417;AAH65712;AAH94800;AAM94177;AAY99645;BAA90929;BAB14820;BAC03840;CAB66731;CAD30871;CAD30872;CAE54481;CAL38370;EAW47962;EAW47963;EAW47964;EAW47965;EAW47966;NP_001128302;NP_001128303;NP_001128304;NP_060121;Q8N157 Hs.386684 1645348;1648340;1654108;1657221;1658947;1679517;1700848;1714105;2125389;2148750;2172692;2186160 A007F37;AFMa074zg9;AL031217;AL031220;RH104050;RH119659;RH46754;RH69238;RH80542;SHGC-36080;SHGC-54149;WI-15947 AHI-1;DKFZp686J1653;FLJ14023;FLJ20069;JBTS3;ORF1;dJ71N10.1 OTTHUMP00000017263;OTTHUMP00000017265;OTTHUMP00000234456;OTTHUMP00000234654;OTTHUMP00000234656;abelson helper integration site;abelson helper integration site 1 protein homolog;contatins SH3 and WD40 domains;jouberin APPROVED protein-coding ENSG00000135541 21575 10597 608629;608894 REVIEWED 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) 2 2 2 p15 61249018 61259145 + 61258325 61267562 + 61404555 61414686 + 6480464 15570572;14739935;14702039;12604615;12504007;12477932;20190752;23128233 130872 B8ZZA7;Q719I0 AA856729;ABBA01075349;AC016747;AF542548;AI636364;AK091998;AK092505;AK092817;AK123709;AL833813;AMYH01010380;BC030998;BC050395;BC063789;BC113671;BC117278;CH471053;NM_152392 AAI13672;AAI17279;AAQ09531;AAY14686;ADR82832;BAG52613;CAD38676;EAX00002;EAX00003;EAX00004;EAX00005;EAX00006;EAX00007;EAX00008;EAX00009;NP_689605;Q719I0 Hs.655602;Hs.732993 1680645;1685890;1740171;1849487;2114978;2115231;2181342 D1S2533;D2S2701;RH16454;RH68436;RH80267;RH93700;SHGC-34452 DKFZp564C236;FLJ34679;FLJ41715;Hch1 OTTHUMP00000159808;OTTHUMP00000159809;OTTHUMP00000202097;OTTHUMP00000202098;activator of 90 kDa heat shock protein ATPase homolog 2 protein-coding ENSG00000173209 20437 16479 VALIDATED 1354128 AIC Aicardi syndrome 7240710 192 350 731071 AHR aryl hydrocarbon receptor This gene encodes a ligand-activated transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Its ligands included a variety of aromatic hydrocarbons. [provided by RefSeq, Jul 2008] 7 7 p15 17304832 17352299 + 17338276 17385775 + 1580863;1300278;1300277;634668;2325664;6480464 12107286;10639156;12586752;12203118 8794892;19340314;9079689;10395741;11782478;12213388;7961644;19535631;19465936;19463884;19460354;19415745;19380484;19360915;19358281;19356098;19356061;20878756;19333233;19255421;19158084;19138996;19114668;19034627;19027718;19018768;19013013;18990750;18923163;18818557;18708364;18708059;18677463;18676680;18636124;18632753;18628420;18524851;18515748;18510611;18483242;18433817;18359762;18358233;18303622;18302886;18259752;18065768;18059014;18037991;17963696;17900530;17823304;17823287;17642299;17596880;17559847;17552871;17511620;17502624;17498780;17490615;17429315;17392787;17311112;17244640;17223712;17200336;17174437;17140257;17053541;16985033;16985026;16952353;16922649;16891617;16762319;16675542;16619036;16538170;16481407;16480812;16403814;16337337;16257957;16153594;16109480;16103451;16091746;16084889;15964790;15917307;15897893;15863442;15837795;15774926;15758562;15728486;15641800;15572374;15499202;15489334;15474075;15342792;15190133;15123621;15069065;15026081;14985336;14978034;14973392;14634838;14560034;14550747;12917420;12853948;12852830;12837759;12774124;12730383;12690205;12637498;12612060;12597446;12592376;12566446;12520072;12480531;12477932;12237327;12215427;12213390;12200463;12181450;12139968;12065584;12024042;11866883;11835227;11805098;11768231;11756572;11742002;11698344;11689007;11505220;11425848;11408954;11393538;11259615;11259606;11207035;11114727;11032419;11013261;10999956;10986286;10903152;10739168;10620335;10497241;10471301;10428779;10048154;9972449;9837941;9787404;9759704;9712901;9446600;9170146;9111057;9083006;8393992;8384309;8246913;8125016;8074712;7961671;7883760;7716743;7628454;7566098;7550366;7515333;7488247;9887096;9704006;21262915;21441140;15681594;21357676;20823264;21490707;20140206;20511231;21316925;11259609;17209571;19170196;19371443;19447902;19536146;19556287;19574409;19592671;19625176;19690180;19692168;19726680;19736056;19755661;19789301;19815066;19821039;19917880;19941898;20000589;20032195;20044593;20053997;20064835;20146706;20237496;20301892;20453000;20395535;20130088;20460431;18029348;21081473;20354149;20804740;20171126;20401977;20973933;20634891;20676092;20619336;21462134;19538249;21072210;21205295;21374063;20709182;22539616;21486221;21600206;21640702;22553215;21689841;23022626;10644764;21627536;22273977;22854411;19390533;21613234;21742528;22053597;22596188;21828262;21804081;21976023;19651607;21693764;21906983;21987572;22628113;23030067;23382382;23419638;22296396;22052373;22123295;22071320;22235307;21878739;21886157;22495716;21996739;22649193;22138065;22311706;22361730;16582008;22728919;22759865;23614276;21963094;21988832;23228475;22903824;23141164;23430108;23229511;23317198;22761424;22495806;22840970;23037589;22754483 196 P35869 AA329775;AACC02000008;ABBA01056640;AC003075;AK307495;AMYH01017097;BC021696;BC069390;BC070080;BQ020427;BQ024331;BX505160;CH236948;CH471073;D16354;D31708;D38044;L19872;NM_001621;U28063;U28064;U28066 AAA16210;AAA92082;AAA92083;AAA92084;AAH69390;AAH70080;BAA03857;BAA07235;EAL24281;EAW93686;EAW93687;NP_001612;P35869 Hs.171189 1643974;1743443;1856150;2134956;2154202;2161845;2164706;2164708;2170781;5021872;5120478;7184439 A005Q15;AHR;D7S1643;D7S2777;G20414;GDB:335257;GDB:335259;RH17631;SHGC-57476;STS-AA031700;sY3084 bHLHe76 AH-receptor;OTTHUMP00000195583;OTTHUMP00000233987;ah receptor;aromatic hydrocarbon receptor;aryl hydrocarbon receptor;class E basic helix-loop-helix protein 76 APPROVED protein-coding ENSG00000106546 348 02596 600253 VALIDATED 1348641 AHRR aryl-hydrocarbon receptor repressor The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] 5 5 p15.3 357291 491406 + 304291 438406 + 6480464 19501819;19380484;19251700;19137073;18676680;18632753;18565642;18172554;17980155;17890447;17559847;17513317;17244640;16344560;16084889;15758562;15474075;14702039;14672759;12777964;12477932;11835227;11423533;11393538;11181995;10574462;9887096;8889548;1070014;18029348;19170196;19625176;20237496;20378615;20453000;17949687;21602797;16751776;22232023;22337624;23583445;22017422;23168330;22951721;23070629;22952704 57491 A9YTQ3;D6RE68;D6RF73;E5RFG4;E5RGQ2;E5RHE0;G3V143;H0YA43 AB033060;ABBA01034257;ABBA01034258;ABBA01034259;ABBA01034260;ABBA01034261;AC010442;AC118458;AF293629;AF293639;AK090508;AK127977;AK314472;AMYH01014822;AMYH01014823;AMYH01014824;AMYH01014825;AMYH01014826;BC035358;BC121047;BC121048;BC151852;BC152406;BM682431;BU738250;BX400426;CH471235;DA051156;DA863025;EU293605;NG_029834;NM_001242412;NM_020731 A9YTQ3;AAG33381;AAI51853;AAI52407;AAI60162;ABX89616;BAA86548;EAW50992;NP_001229341;NP_065782 Hs.50823 1334912;1654838;1682485;1735562;1739581;1740477;1740511;1762689;1856526;2135802;2148154;2172752;2218202 AHRR__4268;D5S1680E;D5S1924E;D5S2273E;D5S2300E;D5S2509;D5S392;RH44696;RH47205;RH77958;SGC32312;SGC34338;SHGC-146482 AHH;AHHR;KIAA1234;MGC167813;MGC176630;bHLHe77 OTTHUMP00000221488;OTTHUMP00000221489;ahR repressor;aryl hydrocarbon hydroxylase regulator;aryl hydrocarbon receptor regulator;aryl hydrocarbon receptor repressor;arylhydrocarbon receptor repressor;class E basic helix-loop-helix protein 77;dioxin receptor repressor APPROVED protein-coding ENSG00000063438 346 07356 606517 REVIEWED 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) 7240710 198 351 300071;300476;300600 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 14 14 14 q24 57962942 57974371 + 76994155 77005568 + 77924373 77935815 + 1580863;6480464 21110914;12504007;17110338;16696853;15489334;12604615;12508121;12477932;11554768;11042152;10931946;17353931;21419342;20089831;18029348;20159553;20029029;22863883;21139048;21890473;21906983;22315411;18556464;21145461;22727666;21832049;22939629;22859491;19875381;22504172 10598 B4DUR9;G3V3W9;G3V438;H0YJ63;H0YJG6;H0YJG7;H0YJU2;O95433 ABBA01030647;AF111168;AF161440;AF164791;AJ243310;AK300766;AK313824;AMYH01005882;BC000321;BC007398;BG432594;CH471061;NM_012111 AAD09623;AAF29000;AAF80755;AAH00321;AAH07398;BAG36559;BAG62431;CAB45684;EAW81291;EAW81292;NP_036243;O95433 Hs.204041 1654355;1655388;1655686;1683613;1725675;1772739 A001T10;G35866;G35953;G62105;RH98219;WI-15374 AHA1;C14orf3;p38 OTTHUMP00000246371;OTTHUMP00000246372;OTTHUMP00000246373;OTTHUMP00000246375;activator of 90 kDa heat shock protein ATPase homolog 1 protein-coding ENSG00000100591 1189 09768 608466 VALIDATED 736027 AHSG alpha-2-HS-glycoprotein Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. [provided by RefSeq, Jul 2008] 3 3 q27 187813544 187821801 + 186330850 186339107 + 1625792;1625793;1625794;1580863;2313813;2313810;2313812;2313814;2313809;2313811;6480464;6484113 17062776;17011519;16567827;15698447;19029462;18316360;12153747;19228823;18633113 21253869;21958193;22511752;12203945;17474147;12773197;12725640;12642050;14718574;11922920;19453261;19358088;19194829;19151998;19110009;19031279;19016589;18728159;18612115;18364352;18337634;18335040;18334823;18286307;18281421;18089450;18085392;18065755;17960182;17889958;17882149;17851232;17702860;17611637;17557141;17318070;17303000;17010978;16968979;16898488;16740002;16567568;16335952;16318278;16117875;16113307;16046317;16024912;16002217;15931001;15917161;15882283;15806395;15599699;15592877;15589849;15489334;14760718;14667137;12914574;12754519;12665801;12556469;12477932;12207096;12071714;11788587;11439093;11415520;10947975;10550518;9322749;9003486;8940198;7906861;7736783;6833285;6803836;3944104;3924066;3474608;3356172;2760061;2645941;2054237;12140560;22855337;22619360;20929991;20946008;20436350;20374388;19478814;19602903;19615685;19672022;19681840;19857655;19857676;19896717;19910501;19931899;20015522;20019453;20031641;20091488;20150538;20299368;20379614;20453496;20533272;20575466;20576822;20543523;19913121;20605840;20628086;20806899;20546343;17207965;20660040;22387701;22939629;19862540;20713686;20926473;20956534;21085476;21123340;20199782;20964498;21543017;20496312;21659653;21310413;22815691;21521338;21521346;21904596;20501379;20360068;21804488;20963400;22703881;18624398;21383631;22079093;21893974;22024217;22377528;22489108;22170794;21953030;22425942;22101880;22554599;21613794;22196954;17116465;22546644;23056292;15174051;22304920;22820893;23190703;22115341;22685600;22980907;23066960;21103663;23024326 197 AAB29984;C9JV77;P02765 AB038689;ABBA01058388;AC068631;AK292751;AK298447;AK303754;AK312969;AMYH01013734;BC048198;BC052590;CH471052;D67012;D67013;DC362553;M16961;NG_011436;NM_001622 AAA51683;AAB29984;AAH48198;AAH52590;ADQ32184;BAA22651;BAA22652;BAA92189;BAF85440;BAG35808;BAH12792;BAH14038;EAW78187;EAW78188;EAW78189;NP_001613;P02765 Hs.324746 1661672;1662788;1669593;1680739;1686490;1741419;1769930;1774083;1774085;1847939;2151033;2164432;2179377 D3S3887;D3S3973;GDB:181194;HUM00TW154;RH47182;RH79056;RH80456;SHGC-2497;SHGC-36465;SHGC-77611;SHGC-79;STS-M16961;STS-T96520 A2HS;AHS;FETUA;HSGA OTTHUMP00000210158;OTTHUMP00000210159;alpha-2-HS-glycoprotein;alpha-2-Z-globulin;ba-alpha-2-glycoprotein;fetuin-A APPROVED protein-coding ENSG00000145192 349 00727 138680 REVIEWED 7205112 AIFM1P1 apoptosis-inducing factor, mitochondrion-associated, 1 pseudogene 1 10 p12.31 19024604 19027758 + 645120 ABBA01034534;AL512641;AMYH01002156;NG_021350 pseudo 44884 INFERRED 1315507 AHSP alpha hemoglobin stabilizing protein 16 16 p11.2 31446704 31447625 + 31539203 31540124 + 1580863;6480464 12066189;18704762;18676996;18179859;18166800;17874450;17194704;16339656;16189514;16186125;15489334;15220346;14715623;14667971;12477932;12192002;11231637;11042152;16169070;22079025;22298770;20627634;20815047;15550245;18347943;19349619;19482015;19706593;20036801;20371604;21232177;17192395;22145905;21988832;23264625 51327 H3BSK6;Q549J4;Q9NZD4 ABBA01042096;AC106730;AF112995;AF147435;AF208865;AF364517;AF485325;AMYH01007509;AY072612;BC035842;CH471192;H94920;NM_016633 AAF64279;AAH35842;AAK50856;AAL82894;AAO49381;AAP97228;ABM81851;ABM85002;EAW52118;NP_057717;Q9NZD4 Hs.274309 1682297;1682706;1725623;2108063 ERAF_8040;G62026;RH68152;RH91101 EDRF;ERAF OTTHUMP00000163295;alpha hemoglobin stabilising protein;alpha-hemoglobin-stabilizing protein;erythroid associated factor;erythroid differentiation associated factor;erythroid differentiation-related factor;erythroid-associated factor APPROVED protein-coding ENSG00000169877 18075 12052 605821 VALIDATED 1347771 AICDA activation-induced cytidine deaminase This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009] 12 12 p13 8646029 8656706 - 8754762 8765442 - 1580863;1598906;6480464;6484113;6907045;7240710 11007475 18722174;10950930;19443686;19412186;19380635;19363484;19336552;19309412;19266080;19247692;19196959;19139166;19023113;19017972;18940926;18776814;18772346;18760480;18757891;18417471;18391550;18390709;18329947;18306229;18213388;17878393;17638864;17485517;17161027;17132718;17066440;17060445;16999936;16785531;16705187;16624806;16541139;16439679;16387847;16381901;16314506;16269615;16122802;15949042;15944282;15814733;15613101;15593119;15489336;15489334;15448152;15372234;15371439;15304391;15252444;15195091;15182647;15148397;15087440;15061213;14990977;14536088;12973929;12928399;12873980;12855567;12799424;12715918;12683974;12651944;12521993;12511417;12477932;12202747;12114543;12097915;12011459;11823785;11544457;11256614;11112359;11076863;16580072;14769937;14551145;21133730;20491788;16251902;19057669;19561087;19573080;19575287;19578742;19667096;19703021;19732723;19734146;19741596;19773279;19859091;19898425;19911124;19966806;20027182;20048284;20118283;20233972;20237496;20237507;20373075;20379614;20117026;20338830;20855884;20864035;20927319;20729863;20637757;20974684;21041454;21048031;20507984;21109971;21268017;21832049;23008333;15634916;21255825;20878190;21385873;22992148;22962683;22798497;23017209;21290192;21700883;21659520;21570118;22034886;22080610;23476051;22042974;22391874;21831295;21984922;22234692;19953087;22168746;22308462;22198384;22446380;22492685;22363466;23133680;22466889;23166356;23589568;22469133;23071276;23263985;23341589;23212122;22899287;23190037;23277564;22205734;22715099;22843687;23198547 57379 H0YFL3;H0YFP1;H0YGF6;Q546Y9;Q6QJ81;Q7Z599;Q9GZX7 AB040430;AB040431;AB092577;ABBA01012245;AC092184;AF529815;AF529816;AF529817;AF529818;AF529819;AF529820;AF529821;AF529822;AF529823;AF529824;AF529825;AF529826;AF529827;AJ577811;AMYH01004239;AY534975;AY536516;AY536517;AY541058;AY748364;BC006296;BT007402;BX402063;CH471116;CS056120;DQ431660;HH794616;NG_011588;NM_020661 AAH06296;AAM95402;AAM95403;AAM95404;AAM95405;AAM95406;AAM95407;AAM95408;AAM95409;AAM95410;AAM95411;AAM95412;AAM95413;AAM95414;AAP36066;AAS90604;AAS92920;AAS92921;AAS98257;AAU95780;ABD92700;ABM83915;ABM87236;BAB12720;BAB12721;BAC66114;CAE12261;CAI75242;CAL38484;CBX87165;EAW88615;NP_065712;Q9GZX7 Hs.149342 1699712 RH103461 AID;ARP2;CDA2;HIGM2 OTTHUMP00000239182;OTTHUMP00000239185;OTTHUMP00000239186;activation-induced cytidine deaminase;cytidine aminohydrolase;integrated into Burkitt's lymphoma cell line Ramos;single-stranded DNA cytosine deaminase APPROVED protein-coding ENSG00000111732 13203 05585 605257;605258 REVIEWED 1603969 AIDA axin interactor, dorsalization associated 1 1 1 q41 196060430 196105032 - 220907978 220952487 - 222841355 222885864 - 6480464 17681137;16344560;14702039;12477932;9110174;8619474;21832049;21900206 64853 F5H715;Q96BJ3 ABBA01048046;AF131838;AK022868;AK289865;AK301870;AL392172;AL592148;AL833718;AMYH01001747;AMYH01001748;BC015535;BC043142;BC067805;BC171848;BG705886;CH471059;DA483113;NM_022831 AAH15535;AAH43142;AAH67805;AAI71848;BAB14281;BAF82554;BAH13571;CAH56257;EAX06366;NP_073742;Q96BJ3 Hs.156625;Hs.534965 1655041;1670094;1680507;1692636;1717879;2117623;2131929;2140001;2140003;2144282;5016183;5022158;5124635 A005Z29;AL010083;AL033945;Cda0qg07;D13S918;D1S2190;D1S2529;G20628;G59749;RH122771;RH98227;SHGC-59595;SHGC-76398 C1orf80;FLJ12806;FLJ32421;RP11-378J18.7 OTTHUMP00000035773;OTTHUMP00000035774;axin interaction partner and dorsalization antagonist;axin interactor, dorsalization-associated protein protein-coding ENSG00000186063 25761 07798 612375 VALIDATED 1312901 AIF1L allograft inflammatory factor 1-like 9 9 9 q34.13-q34.3 104510955 104537611 + 132961733 132988360 + 133971863 133998539 + 737633;6480464 12477932 11256614;18699778;16381901;15489336;15489334;15164053;14702039;12975309;11230166;11076863;8889548;19322201;16344560;20237496;20360068;21890473 83543 A6PVM9;F5GYC9;H7C605;Q5JUP1;Q5JUP3;Q9BQI0 ABBA01012077;ABBA01012078;AK022845;AK027181;AK057789;AK091912;AK128526;AK300473;AK314600;AL136566;AL157938;AL833896;AMYH01021776;AY359067;BC009826;BC021253;BI766795;BM975905;CH471090;DA285481;NM_001185095;NM_001185096;NM_031426;NR_033701 AAH21253;AAQ89426;BAB14269;BAC03770;BAC87480;BAG37171;BAH13291;CAB66501;CAD38752;CAL37731;CAL38179;CAL38735;EAW87958;EAW87959;NP_001172024;NP_001172025;NP_113614;Q9BQI0 Hs.4944 1653070;1670738;1846532;1847022;2115163 A002O41;A007D17;HSC2JF042;IB671;RH18178 C9orf58;FLJ12783;IBA2;MGC29466 OTTHUMP00000022385;OTTHUMP00000022387;OTTHUMP00000022388;OTTHUMP00000022390;allograft inflammatory factor 1-like;ionized calcium binding adapter molecule 2;ionized calcium-binding adapter molecule 2 protein-coding ENSG00000126878 28904 12967 VALIDATED 735562 AIF1 allograft inflammatory factor 1 This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of growth of vascular smooth muscle cells, which contributes to the anti-inflammatory response to vessel wall trauma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 p21.3 31691012 31692777 + 31582994 31584798 + 1580863;2313020;2313027;2313032;2313037;2313043;2313025;2313026;2313038;2313039;2313199;2313033;2313024;2313029;2313041;2313021;2313022;2313023;2313028;2313030;2313034;2313035;2313036;2313040;2313042;2313045;6480464 19520144;19020040;18301954;17158026;9391121;19053043;10683518;17035944;16635480;18987644;18204784;19070908;18931666;16150122;19447505;19246105;19084047;19010395;18585922;18186080;17178407;16500929;15710454;16340083 9614071;8912632;19204726;19079260;18835879;18816612;18787073;18721278;18341653;17907195;17533487;17522098;17498268;17073733;17011575;17010532;16868985;16291819;16049345;15922740;15784173;15489334;15117732;14756805;14656967;14574404;12887599;12714565;12559634;12477932;11943136;11500035;10202016;8629302;8499947;7769138;20662065;18699778;19745784;19851445;20237496;20587610;20855536;21040744;21168672;20850992;21890473;11557666;22116621;21509525;21720444;22225958;22106834;23221708;22505724;22560794;22936669 199 I3WTX1;P55008;Q4V347;Q5STX8 ABBA01038082;ABBA01038083;AF088038;AF129756;AF299327;AF299329;AK290771;AL662801;AL662847;AL805934;AMYH01016217;BA000025;BC009474;BX248305;CB215777;CD521003;CH471081;CR542153;CR753892;CR759761;D86438;DB502939;EF070981;EF070982;EF070983;JQ782414;JQ782415;NM_001623;NM_004847;NM_032955;U19713;U49392;U95213;Y14768 AAA92457;AAB05003;AAC24422;AAD18087;AAG39110;AAG39112;AAH09474;ABK35646;ABK35647;ACE87076;ACE87756;AFL46387;AFL46388;BAA13088;BAB63392;BAF83460;CAA75060;CAA75061;CAA75062;CAG46950;EAX03442;EAX03443;EAX03444;EAX03445;EAX03446;EAX03447;NP_001614;NP_004838;NP_116573;P55008 Hs.76364 1753991;1795334;2122325 AIF1_696.2;D6S1864;SHGC-132025 AIF-1;IBA1;IRT-1;IRT1 OTTHUMP00000029354;OTTHUMP00000029356;OTTHUMP00000029358;allograft inflammatory factor 1;allograft inflammatory factor-1 splice variant Hara-1;interferon gamma responsive transcript;ionized calcium-binding adapter molecule 1;protein G1 APPROVED protein-coding ENSG00000204472 352 03496 601833 REVIEWED 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 7240710 200 354 104500;204650 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type 7240710 1358807 201 355 1312709 AIFM2 apoptosis-inducing factor, mitochondrion-associated, 2 This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010] 10 10 q22.1 71542036 71562696 - 71872023 71892690 - 1580863;6480464 15958387;11980907;12135761;17711848;17347867;15489334;15273740;15164054;14702039;12477932;10441517;15342556;20877624;20635389;19270026;14741744;21139048;21890473;21906983;22623531 84883 Q9BRQ8 ABBA01019617;ABBA01019618;ABBA01019619;AF337957;AF506757;AI922797;AK027403;AK127353;AL731540;AMYH01002811;BC006121;BC023601;BG332787;BP331371;BX537621;CH471083;NM_001198696;NM_032797 AAH06121;AAH23601;AAL73229;AAM77596;ABM84018;ABM87363;BAB55089;BAG54492;CAH56481;EAW54376;NP_001185625;NP_116186;Q9BRQ8 Hs.650680 1676324;2126883 D10S2375;RH99102 AMID;DKFZp686L1298;PRG3;RP11-367H5.2 5430437E11Rik;OTTHUMP00000019739;OTTHUMP00000019740;apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death;apoptosis-inducing factor 2;apoptosis-inducing factor homologous mitochondrion-associated inducer of death;p53-responsive gene 3 protein APPROVED protein-coding ENSG00000042286 21411 09797 605159 REVIEWED 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 22 22 22 q11.21 4810763 4826996 + 19649434 19665649 + 21319418 21335649 + 6480464 15764604;19166416;16344560;16001080;15790807;15489334;15461802;14702039;12477932;18029348;18482256;20877624;21832049;22387901;22550867 150209 B7Z376;B7Z9S7;C9JPU8;C9K029;F8WC30;F8WFB6;Q96NN9 ABBA01015433;AC002470;AK055035;AK094844;AK126917;AK295581;AK316042;AMYH01012539;AY927574;AY927594;BC032485;BQ028401;CH471176;CR456342;DA396585;DB172173;NM_001018060;NM_001146288;NM_144704;NR_027464 AAH32485;ADZ15447;BAB70841;BAC04434;BAH12112;BAH14413;CAG30228;CAK54484;CAK54783;EAX02924;EAX02925;EAX02926;EAX02927;EAX02928;EAX02929;EAX02930;EAX02931;NP_001018070;NP_001139760;NP_653305;Q96NN9 Hs.723246 AIFL;FLJ30473;FLJ45137 OTTHUMP00000198534;OTTHUMP00000198535;OTTHUMP00000198536;apoptosis-inducing factor 3;apoptosis-inducing factor like;apoptosis-inducing factor-like protein protein-coding ENSG00000183773 26398 08085 VALIDATED 731380 AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010] X X q26.1 129091018 129127489 - 129263337 129299861 - 1580863;6480464;6484113;6907045;7240710 9989411;16713569;17353931;19418225;19197367;18821579;18806756;18593521;18306460;18056262;17709377;17603079;17560018;17492772;17471535;17352692;17347867;17107772;17094969;16729031;16644725;16628003;16365034;16344560;16049016;15772651;15729291;15703386;15526035;15489334;15316071;15286713;15182854;14716299;14585540;12930708;12668724;12629154;12535654;12477932;12198487;12022952;11533664;11279485;10913597;10744629;9892620;9206994;9110174;8619474;1202295;16511342;12404120;15033690;11193032;17967870;16169070;21145461;20450583;20228227;15775970;17148452;19064571;19578750;19598027;19723031;19723032;19781850;20177052;20362274;17822623;19913121;20628086;16133872;22939629;20450942;21206973;20301532;21182205;23217327;23118229;19669652;21732781;21616126;20000738;21875946;20974255;21075090;21293491;20972266;21139048;21890473;22019070;21822214;22438963;18781797;19765186;20360068;21343306;21415862;22103349;22328780;22371500;21113133;22133578;22134679;23398456;23077592;23455922;23752268;17110338;20706999;22688575;23438482;23682427;19380743;22268729;22839996 9131 E9PMA0;E9PMQ8;E9PRR0;Q5JUZ7 ABBA01047894;ABBA01047895;ABBA01047896;ABBA01047897;ABBA01047898;ABBA01047899;AF100928;AF131759;AK000775;AK314446;AL049703;AL049704;AL139234;AMYH01022970;AMYH01022971;AY795556;AY795557;BC111065;BC139738;BM807180;CH471107;CR457379;DA624842;DB119488;DQ016496;DQ016498;DQ016500;NG_013217;NM_001130846;NM_001130847;NM_004208;NM_145812;NM_145813 AAD16436;AAD20036;AAI11066;AAI39739;AAV54053;AAV54054;AAY84737;AAY84739;AAY84741;BAG37055;CAB41267;CAB41268;CAG33660;EAX11810;EAX11811;EAX11812;NP_001124318;NP_001124319;NP_004199;NP_665811;NP_665812;O95831 Hs.424932 2123190;2132156;5024756;5125352 DXS7034E;RH12533;RH80030;STS-AA001364 AIF;CMTX4;COWCK;COXPD6;MGC111425;PDCD8 OTTHUMP00000024007;OTTHUMP00000024008;OTTHUMP00000024009;OTTHUMP00000226557;OTTHUMP00000230753;apoptosis-inducing factor 1, mitochondrial;programmed cell death 8 (apoptosis-inducing factor);striatal apoptosis-inducing factor APPROVED protein-coding ENSG00000156709 8768 02161 300169;300816;310490 REVIEWED 1316387 AIM2 absent in melanoma 2 AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008] 1 1 q22 157298899 157313271 - 159032275 159046647 - 1580863;5490211;6480464 20303873 8700511;9242382;19158676;19158675;17726700;16710414;16432157;15582594;15076139;12477932;10828447;9865494;20595294;18029348;19293232;19795419;20401524;19158679;21471287;21550598;21804607;21883803;22140256;22092578;22320325;22483801;23171461;23530044;22869553;23251661 9447 O14862;Q5T3V8;Q5T3W0 ABBA01016620;ABBA01016621;AF024714;AK292042;AL359753;AMYH01001444;BC010940;CH471121;NM_004833;U52053 AAB81613;AAH10940;BAF84731;EAW52795;NP_004824;O14862 Hs.733411 PYHIN4 OTTHUMP00000035296;interferon-inducible protein AIM2 APPROVED protein-coding ENSG00000163568 357 05202 604578 REVIEWED 1346084 AIG1 androgen-induced 1 6 6 6 q24.2 144122434 144401847 + 143423716 143703134 + 143382023 143661441 + 1580863;6480464 15489334;14702039;14574404;12477932;11266118;10810093;8125298;20379614;21622095 51390 B4DPX2;Q5T2H0;Q5T2H3;Q5T2H4;Q5THU2;Q9NVV5 ABBA01025751;AF151861;AF153605;AJ420480;AK001347;AK222475;AK298533;AL023581;AL136116;AL391726;AL450335;AMYH01016721;BC009559;BC025278;BF725860;BX538067;BX640703;CH471051;NM_016108 AAD34098;AAD41087;AAH25278;ABM84217;ABM87621;BAA91640;BAD96195;BAG60734;CAD97997;CAE45823;EAW47869;EAW47870;NP_057192;Q9NVV5 Hs.567501 1662775;1668386;1669565;1688576;1689251;1698122;1700444;1718791;1773931;1785880;2126095;2141101;2141103;5022578;5037552 A005R11;D1S1423;D6S1854;D8S2279;G20433;L18072;RH102594;RH103843;RH123099;RH12623;RH68631;RH91918;RH92672;SHGC-132024;STS-H95238 AIG-1;DKFZp686F03136;FLJ10485;RP1-95L4.1;dJ95L4.1 OTTHUMP00000017323;OTTHUMP00000017324;OTTHUMP00000017325;OTTHUMP00000017327;OTTHUMP00000017328;androgen induced protein (AIG-1), C-terminus truncated;androgen-induced gene 1 protein protein-coding ENSG00000146416 21607 16346 608514 VALIDATED 1318513 AIM1 absent in melanoma 1 6 6 q21 107066423 107125028 + 106959730 107018335 + 1580863;6480464;7240710 22402438;19194464;18582473;17434096;16511323;14702039;14574404;12693952;12477932;10737800;9096375;8700511;1680551;21145461;19910543;20379614;22127895;22761906;22505724 202 B3KPT0;B4DU04;Q96QW7;Q9Y4K1 AA574200;ABBA01026195;ABBA01026196;AI765826;AK025693;AK056705;AK125137;AK297008;AK300443;AK316287;AL359292;AL390074;AMYH01016566;BC062788;BF743639;CH471051;CV573838;HA637632;NM_001624;U83115;U83116 AAB53791;AAB53792;AAH62788;AAI56647;BAG51792;BAG54152;BAG59543;BAG62166;BAH14658;CAZ39538;EAW48412;EAW48413;NP_001615;Q9Y4K1 Hs.643590;Hs.724262 1661055;1671375;1703904 D6S1886;D6S2123;SHGC-83606 CRYBG1;ST4 OTTHUMP00000016924;absent in melanoma 1 protein;beta-gamma crystallin domain containing 1;beta/gamma crystallin domain-containing protein 1;suppression of tumorigenicity 4 (malignant melanoma) protein-coding ENSG00000112297 356 18576 227240;601797;606574 VALIDATED 6480382 AIMP1P2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2 1 q24.3 172855087 172855398 - 100873064 ABBA01027913;AMYH01001500;NG_032149;Z97198 pseudo 43693 INFERRED 1352273 AIMP1P1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1 20 20 20 p12.1 14183350 14184432 + 14055976 14057087 + 14107977 14109059 + 20677014 170547 ABBA01053978;AL136992;AMYH01011727;NG_001053 SCYE1P;bA400P21.1 APPROVED pseudo 16543 INFERRED 1349404 AIS1 autoimmune susceptibility 1 7240710 11912181;12707860 373071 1334633;1341142 D1S2742;D1S515 16304 607836 1318501 AIM1L absent in melanoma 1-like 1 1 1 p36.11 25044670 25076960 - 26520937 26553208 - 26648350 26680621 - 6480464 17672918;16710414;16344560;15203218;14702039;12477932;9716656;8401585;21906983;23251661 55057 E7ET48;E7EX92;E9PIR9;J3KQW1;Q5T144;Q8N1P7;Q9NWG5 ABBA01034904;ABBA01034905;ABBA01034906;ABBA01034907;AK000902;AK095339;AL137264;AL451139;AMYH01000397;AMYH01000398;BC136870;CD628848;CD628851;CH471059;DA439029;DA456217;DR004727;NM_001039775 AAI36871;BAA91416;BAC04533;CAB70663;EAX07819;NP_001034864;Q8N1P7 Hs.128738 2124721 RH69989 CRYBG2;DKFZp434L1713;FLJ10040;FLJ38020 OTTHUMP00000003569;absent in melanoma 1-like protein;beta-gamma crystallin domain containing 2;beta/gamma crystallin domain-containing protein 2 protein-coding 17295 09794 VALIDATED 1346674 AIS2 autoimmune susceptibility 2 7240710 14691733 378426 7186484 D7S669 23054 1342580 AIS3 autoimmune susceptibility 3 (vitiligo specific) 7240710 14691733 378427 1340103 D8S505 23083 2306132 AIRN antisense of IGF2R non-protein coding RNA Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013] 6 q26 160424323 160428696 - 6480464 19008856;18789384;11329013;21345374;21915889;22396659 100271873 ABBA01021058;AL035691;AMYH01016806;AW008515;BG216164;NR_047511;NR_047514 Hs.742166 AIR;IGF2R-AS;IGF2R-AS1;IGF2RAS;NCRNA00088 APPROVED miscrna ENSG00000268257 34515 604893 REVIEWED 1322440 AIRE autoimmune regulator This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012] 21 21 q22.3 44530191 44542530 + 45705721 45718102 + 1599008;1580863;2306853;6480464;6907045;7240710 9921903;18399912 17474147;9398839;9398840;19322061;19265170;19264985;19261265;19209622;19124002;18616774;18616706;18682433;18606876;18600308;18568643;18461357;18324482;18320920;18292755;18200029;18194361;18083234;17997173;17974569;17938200;17928069;17850514;17697502;17687331;17675238;17323409;17220063;17118990;17101293;16890195;16774540;16552513;16313305;16310047;16246524;16114041;15964547;15894121;15886230;15712268;15696198;15649886;15482854;15157567;15150263;14974083;14734522;12651856;12625412;12542742;12477932;12173302;12050215;11836330;11803052;11600535;11533054;11524733;11524731;11298085;11275943;11274163;10830953;10748110;10677297;9931335;9931333;9888391;9735375;9717837;9267805;7987397;12929931;22447927;21356351;21505073;21508664;22490868;19328411;19446523;19744957;19758376;19807739;19811436;20085707;20093495;20140861;20185822;20226168;20363194;23256763;19863576;20218732;20602615;20718774;20734064;21048031;21102544;20453472;20850570;21197407;20407862;23342054;20494980;18029348;21740349;21856934;23077531;23083345;21724609;22036612;22344197;23319629;23456700;22377300;20953165;22024611;21962774;22310661;22613203;22659170;22104652;23074189 326 C9JFR1;C9JL37;O43918 AB006682;AB006683;AB006684;AB006685;ABBA01074161;ABBA01074162;AJ009610;AK309572;AMYH01012290;AMYH01012291;AP001060;AP001754;BC137268;BC137270;BC142608;CH471079;NG_009556;NM_000383;Z97990 AAI37269;AAI37271;BAA23988;BAA23989;BAA23990;BAA23991;BAA23992;BAA23993;BAA95560;CAA08759;CAB10790;EAX09441;EAX09443;NP_000374;O43918 Hs.129829 1793952 PMC310701P3 AIRE1;APECED;APS1;APSI;PGA1 OTTHUMP00000109528;OTTHUMP00000109529;autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein;autoimmune regulator;autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) APPROVED protein-coding ENSG00000160224 360 06301 240300;607358 REVIEWED 1344147 AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008] 4 4 q24 107457124 107489021 + 107236767 107270382 + 724676;1580021;1580863;6480464 12429238;14732363 19362550;21576822;11741979;11306575;7545917;9405472;14500886;19002109;18951814;18621627;17443684;17303557;17051333;17018011;16674941;16615114;16344560;15935955;15489334;14982944;14702039;14688335;14588117;12729910;12543078;12477932;12161535;11157763;10852899;10409428;10358004;9878398;7929199;1400342;15857508;18448069;21145461;21047177;21092922;11714285;12819782;16055448;19565673;19573982;19917687;20332099;8052601;8078941;8188258;8449960;9278442;9368021;20510162;20413730;20429837;21789020;21832049;22863883;22939629;23082492;16196087;21416500;21139048;21890473;21906983;22412987;21628590;22767513;23000965;22190034;22505724 9255 B4DNK3;D6R937;Q12904 ABBA01063740;AC093680;AK095951;AK297950;AK303965;AMYH01014444;AY527272;BC014051;BG941396;BI258927;BM314663;BQ447202;CH471057;CR542281;DA211424;DC358150;NG_028166;NM_001142415;NM_001142416;NM_004757;U10117 AAA62202;AAH14051;ABM84225;ABM87736;BAG53174;BAG60265;BAG64889;CAG47076;EAX06203;EAX06204;NP_001135887;NP_001135888;NP_004748;Q12904 Hs.591680 1678349;1700696;1754375;1798132;2114733;2124662;2126138;2149743;2159558 G35299;RH103971;RH93669;SCYE1_2292;SHGC-132391;SHGC-24759;SHGC-57456;SHGC-59700;SHGC-67688 EMAP2;EMAPII;HLD3;SCYE1;p43 ARS-interacting multifunctional protein 1;OTTHUMP00000161877;OTTHUMP00000161878;OTTHUMP00000219673;aminoacyl tRNA synthase complex-interacting multifunctional protein 1;endothelial monocyte-activating polypeptide 2;endothelial-monocyte activating polypeptide II;multisynthase complex auxiliary component p43;multisynthetase complex auxiliary component p43;small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) APPROVED protein-coding ENSG00000164022 10648 04676 260600;603605 REVIEWED 1603390 AJAP1 adherens junctions associated protein 1 1 1 1 p36.32 3826971 3955676 + 4614965 4743711 + 4715105 4843851 + 6480464 19515834;19850283;19240061;18485053;17267690;16707570;16410724;14595118;12477932;9110174;8619474;21439246;22241217;23064961;20467438 55966 Q9UKB5 ABBA01014088;ABBA01014089;ABBA01014090;AF052143;AF175409;AL023586;AL049672;AL049673;AL391808;AMYH01000199;AMYH01000200;AMYH01000201;AY282806;BC041648;CH471130;NM_001042478;NM_018836;Z98886 AAD53278;AAI60124;AAP35025;CAB41245;CAB41246;EAW71504;NP_001035943;NP_061324;Q9UKB5 Hs.25924 1336058;1703228;1733174;1766901;1773444;1850263;5105873 D1S1475;D1S2660;G09820;SGC32361;SHGC-151204;SHGC-152353;SHGC-74142 MOT8;RP3-426F10.1;SHREW-1;SHREW1 OTTHUMP00000000694;OTTHUMP00000000695;adherens junction associated protein 1;adherens junction-associated protein 1;membrane protein shrew-1;transmembrane protein SHREW1 protein-coding ENSG00000196581 30801 15339 610972 VALIDATED 1626587 AK2P1 adenylate kinase 2 pseudogene 1 1 1 1 p32.1 57380035 57380761 - 58868171 58870148 - 59096518 59097244 - 10092943 266920 ABBA01074659;AF056332;AL035411;AMYH01000656;NG_002393 1682503;1793106 PMC196577P1;RH80838 AK2B pseudo 24037 INFERRED 1603320 AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008] 7 7 p22 6015408 6029991 + 6048882 6063465 + 6480464 22562359;16189514;18695251;18676680;16125937;15489334;12853948;12819782;12783850;12729910;12690205;12477932;10913161;9878398;8666379;1651330;600859;15479637;21483803;16049031;16135753;16714300;11714285;16055448;17512523;19060904;19170196;19625176;19692168;8052601;8078941;8188258;8449960;9278442;21832049;22863883;22939629;22285955;19584093;21044950;21628590;22751010;21209200;18781797;21900206;21139048;21890473;21110914;22532625;22190034 7965 A8MU58;F8W950;F8WCL2;Q13155 ABBA01029369;ABBA01029370;AC005995;AF116615;AK313037;AMYH01017029;AMYH01017030;BC002853;BC010156;BC013630;CH236963;CH878731;NM_006303;U24169 AAC50391;AAF71039;AAH02853;AAH10156;AAH13630;AAS00389;BAG35870;EAL23713;EAW55053;EAW55054;NP_006294;Q13155 Hs.301613;Hs.520205 1646772;1712220;2117616;2159210 D7S2761;G54017;RH12212;SHGC-37403 JTV-1;JTV1;P38;PRO0992 ARS-interacting multi-functional protein 2;JTV1;OTTHUMP00000151158;OTTHUMP00000201310;OTTHUMP00000201311;aminoacyl tRNA synthase complex-interacting multifunctional protein 2;multisynthase complex auxiliary component p38;multisynthetase complex auxiliary component p38;protein JTV-1 APPROVED protein-coding ENSG00000106305 20609 02915 600859 VALIDATED 1626554 AK2P2 adenylate kinase 2 pseudogene 2 2 2 2 p23.1 31893336 31893756 - 31901195 31902397 - 32048479 32048899 - 339736 ABBA01074858;AL121652;AMYH01010222;NG_009660 1793106;2151332 PMC196577P1;SHGC-74553 pseudo 33542 INFERRED 735610 AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq, Jul 2008] 17 17 p13.1 6267783 6279243 - 6327059 6338519 - 1599003;70801;1580863;6480464;7240710 10873396;10615133 14555765;12374762;18408180;16272259;15489334;15469903;15365173;15347646;15249368;15180275;15081406;14702039;12477932;11929855;11548141;10331942;8889548;20801516;19753312;19959640;20042464;20702822;21697133;21900377;22347407;21044950;20301475;20301590 23746 F1T0B5;F1T0B6;F1T0C4;I3L3R9;J3KPI5;K7EPF4;Q659W3;Q659W4;Q6ZZB5;Q7Z3H1;Q9NZN9 AB593042;AB593043;AB593044;AB593045;AB593046;AB593047;AB593048;AB593049;AB593050;AB593051;AB593052;AB593053;AB593054;AB593055;ABBA01054828;AC055872;AF038437;AF148864;AF180472;AF525970;AJ633677;AJ633678;AJ830742;AJ830743;AK023970;AK314558;AMYH01008058;BC007994;BC012055;BE778451;BM685943;BX537907;BX647279;BX953335;CH471108;NG_008474;NM_001033054;NM_001033055;NM_014336 AAF26708;AAF74023;AAH12055;AAM88405;AAQ13422;ABM83186;ABM86388;BAB14744;BAG37143;BAJ83989;BAJ83990;BAJ83991;BAJ83992;BAJ83993;BAJ83994;BAJ83995;BAJ83996;BAJ83997;BAJ83998;BAJ83999;BAJ84000;BAJ84001;BAJ84002;CAD97892;CAG17882;CAG17883;CAH25995;CAH25996;EAW90310;EAW90311;EAW90312;EAW90313;EAW90314;EAW90315;NP_001028226;NP_001028227;NP_055151;Q9NZN9 Hs.279887 1336063;1711382;1711426;2114096;2164410;2169948 AIPL1;G10693;G42173;G42198;RH78637;STS-AA019599 AIPL2;LCA4 OTTHUMP00000128207;aryl hydrocarbon receptor-interacting protein-like 1;aryl-hydrocarbon-interacting protein-like 1 APPROVED protein-coding ENSG00000129221 359 05092 604392;604393 REVIEWED 5684152 AK3P2 adenylate kinase 3 pseudogene 2 8 q24.3 144138480 144139233 - 100419074 ABBA01005274;AC083982;AMYH01019098;NG_026075 1744323 GDB:451685 HsT26053 pseudo 31099 INFERRED 5490944 AK3P3 adenylate kinase 3 pseudogene 3 7 23168797 23169457 + 100419075 AACC02000007;ABBA01056700;AC006039;AMYH01017110;CH236948;NG_026542 pseudo 39062 INFERRED 4144669 AK3P4 adenylate kinase 3 pseudogene 4 5 5 5 q22.3 110686059 110686782 + 114759674 114766563 + 114738037 114738661 + 100129959 ABBA01069033;AC091981;AMYH01015561;NG_028719 pseudo 39063 INFERRED 4144672 AK3P5 adenylate kinase 3 pseudogene 5 10 10 p11.22 32998683 32999267 + 33233345 33233929 + 100288319 ABBA01033378;AL365203;AMYH01002223;NG_022166;NG_029012 pseudo 39064 INFERRED 1343876 AJUBA ajuba LIM protein 14 14 q11.2 22510249 22521691 - 23440409 23451851 - 1580863;6480464;6484113 18805794;18710370;17621269;16713569;16413547;15870274;15870270;15728191;14702039;13678582;12477932;12417594;11860269;11029037;10330178;15778465;22105346;16712791;20133701;20508983;18347060;18331720;21139048;22286099 84962 G3V481;G3V5F5;H0YJL9;Q96IF1 ABBA01061298;AK025567;AK096128;AL132780;AMYH01005601;AY169959;BC007580;BC016733;BC034968;BU543883;CB105505;CH471078;NM_032876;NM_198086 AAH07580;AAH34968;AAO37641;ABM84439;ABM87485;BAG53217;EAW66204;EAW66205;NP_116265;NP_932352;Q96IF1 Hs.655832 1721981;2143018;2174639;2178680;5491427 G59876;MARC_11631-11632:1002817108:1;RH47855;RH68535;WI-17421 JUB;MGC15563 LIM domain-containing protein ajuba;OTTHUMP00000027924;OTTHUMP00000164552;OTTHUMP00000246052;OTTHUMP00000246053;OTTHUMP00000246054;jub, ajuba homolog;protein ajuba APPROVED protein-coding ENSG00000129474 20250 16426 609066 VALIDATED 1349421 AK4P1 adenylate kinase 4 pseudogene 1 17 17 q11.2 26696663 26697334 + 29672332 29674519 + 1639383 206 ABBA01014962;AC134669;AMYH01008321;NG_001070;X60674 AK3P1 APPROVED pseudo 364 INFERRED 6481552 AK3P6 adenylate kinase 3 pseudogene 6 12 129426644 129429838 - 100873789 ABBA01019774;AC069262;AMYH01004870;NG_032224 pseudo 39065 INFERRED 1354071 AIP aryl hydrocarbon receptor interacting protein The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. [provided by RefSeq, Sep 2008] 11 11 q13.3 67007097 67015150 + 67250505 67258579 + 1580863;6480464;7240710 9447995;14557246;8972861;18029348;19474519;19375531;19188737;18710468;18628514;18484068;18381572;17916996;17914118;17893251;17613551;17609395;17360484;17341560;17299063;17244780;17242703;17018653;16936638;16807248;16728643;15592455;15489334;14730974;12837759;12721663;12482853;12477932;12361709;12065584;12036304;11805120;11259606;11013261;10986286;10690880;9837941;16582008;9111057;9083006;8889548;7961671;20029029;20506337;20211142;21208107;21078971;21170051;20530095;20634891;20685857;12810716;16257957;17329248;18410548;19366855;19556287;19684062;19794292;19883897;19910549;20507346;20354355;22863883;22811466;21340155;22939629;20595802;21450940;21546764;21753072;22319033;21139048;21906983;19390533;21512261;21903422;21984905;22026581;22420004;22720333;23321498;21988832;22113938;23000965;23038625;23300914;20661446;22505724 9049 E9PMH2;E9PPD7;O00170 ABBA01024030;AM236341;AMYH01003747;AP001184;AP003419;BC104797;BC104827;BG821308;BU689235;CH471076;CN480874;EF203238;GQ847771;NG_008969;NM_003977;U31913;U78521 AAB39923;AAB59004;AAI04798;AAI04828;ABO16001;ABZ92142;ACX54433;CAJ85657;EAW74637;NP_003968;O00170 Hs.412433 1646139;1655588;1686356;1772643;2217000 AIP_2914;RH47507;RH71222;STS-W15227;WI-14069 ARA9;FKBP16;FKBP37;SMTPHN;XAP-2;XAP2 AH receptor-interacting protein;HBV X-associated protein 2;HBV-X associated protein;OTTHUMP00000236411;OTTHUMP00000236412;XAP-2;aryl hydrocarbon receptor-interacting protein;aryl-hydrocarbon receptor interacting protein;aryl-hydrocarbon receptor-interacting protein;immunophilin homolog ARA9 APPROVED protein-coding ENSG00000110711 358 10408 102200;219090;600634;605555 REVIEWED 736701 AK1 adenylate kinase 1 Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate group among adinine nucleotides. Three isozymes of adenylate kinase have been identified in vertebrates, adenylate isozyme 1 (AK1), 2 (AK2) and 3 (AK3). AK1 is found in the cytosol of skeletal muscle, brain and erythrocytes, whereas AK2 and AK3 are found in the mitochondria of other tissues including liver and heart. AK1 was identified because of its association with a rare genetic disorder causing nonspherocytic hemolytic anemia where a mutation in the AK1 gene was found to reduce the catalytic activity of the enzyme. [provided by RefSeq, Jul 2008] 9 9 q34.1 129668580 129679843 - 130628759 130640022 - 1300279;1580863;1601154;1300280;1300048;5134362;5508760;5490520;5147990;6480464;6907045;7240710 10233365;15855311;11101510;20127051;16468349;16167529;17611631 2542324;211388;17353931;18029348;19165527;18850517;18404568;16714292;16344560;15489334;12649162;12477932;12432079;12124227;10557075;9504408;8125298;7947281;6305188;3024483;2541064;183954;15967462;20152999;21457004;21832049;22939629;22637533;22287021;21831515;21139048;21555454;21890473;21044950;22419736;23146316;23000965 203 F8VRY5;H0Y4J6;H0YID2;P00568;Q5T9B7;Q6FGX9 AB021871;ABBA01043850;AK223501;AK313758;AL157935;AMYH01021736;BC001116;BC036803;BC100022;BT019580;CH471090;CR541977;CR542004;DA077967;J04809;NG_011792;NM_000476 AAA51686;AAH01116;AAI00023;AAV38387;ABM83502;ABM86718;BAA78534;BAD97221;BAG36497;CAG46775;CAG46801;EAW87706;EAW87707;EAW87708;EAW87709;NP_000467;P00568 Hs.175473 1695010;1759959;1777120;5015861;5022590;7185938 D10S16;D8S1362E;G44718;SHGC-31174;SHGC-31625 AK 1;ATP-AMP transphosphorylase 1;ATP:AMP phosphotransferase;OTTHUMP00000022217;OTTHUMP00000022218;OTTHUMP00000022219;OTTHUMP00000022220;OTTHUMP00000216413;adenylate kinase isoenzyme 1;adenylate monophosphate kinase;myokinase APPROVED protein-coding ENSG00000106992 361 00046 103000;612631 REVIEWED 4144712 AK4P2 adenylate kinase 4 pseudogene 2 5 5 5 q11.2 51801829 51802495 - 54883470 54896615 - 54847716 54848382 - 100132104 ABBA01015743;AC008784;AC025777;AMYH01015090;NG_021849 pseudo 39066 INFERRED 4144715 AK4P4 adenylate kinase 4 pseudogene 4 9 9 9 p24.1 5793276 5793916 - 5823116 5846426 - 5855786 5856426 - 100128705 ABBA01065409;AL365360;AMYH01019203;NG_021605 2155895 1422 pseudo 39067 INFERRED 4145468 AK4P5 adenylate kinase 4 pseudogene 5 6 80787446 80788079 - 100526416 ABBA01040421;AL591135;AMYH01016460;NG_027847 KIAA1424 pseudo 39068 INFERRED 1605795 AK4P3 adenylate kinase 4 pseudogene 3 1 12 p11.21 65386679 65464448 + 31767388 31769519 - 645619 AC022080;AMYH01004367;CH471116;NG_007564 EAW88550 AK3;AK3L2;AK3L2P APPROVED pseudo 21596 INFERRED 4144674 AK4P6 adenylate kinase 4 pseudogene 6 4 4 4 q31.3 149267857 149268384 + 152167650 152168312 + 151948242 151948769 + 649288 ABBA01070096;AC079794;AMYH01014614;NG_022085 pseudo 39069 INFERRED 1350831 AK8 adenylate kinase 8 9 9 9 q34.13 106142640 106295933 - 134590786 134744019 - 135600965 135754198 - 737633;6480464 12477932 17207965;19240061;14702039;18839057;20379614;21080915;23455924;23251661;23377640 158067 Q8N9Z7;Q96MA6 ABBA01032479;ABBA01032480;ABBA01032481;AK057266;AK093333;AK093446;AK292186;AL160165;AL445645;AMYH01021792;BC034776;BC037402;BC050576;CH471090;NM_152572 AAH34776;AAH50576;ADQ31793;BAB71402;BAC04134;BAC04168;BAF84875;EAW88012;EAW88013;EAW88014;EAW88015;EAW88016;EAW88017;NP_689785;Q96MA6 Hs.421340 1336184;1650490;1713503;1752873;1759605;2112010;2126554;2130472;5127953 D9S1830;D9S2126;RH120235;SGC31362;SHGC-106791;SHGC-151232;SHGC-152457;SHGC-34984;STS-H71035 AK 8;C9orf98;DDX31;FLJ32704;FLJ36014;RP11-143F18.1 ATP-AMP transphosphorylase 8;OTTHUMP00000022737;adenylate kinase 8;putative adenylate kinase-like protein C9orf98 APPROVED protein-coding ENSG00000165695 26526 12991 615365 VALIDATED 735291 AK2 adenylate kinase 2 Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010] 1 1 p34 33246173 33275079 - 33473541 33502512 - 1300048;5490520;6480464;6907045;7240710 16167529 9504408;6182143;19043417;19043416;18404568;17952061;16710414;15862967;15489334;14702039;12477932;10218571;9434148;8843353;6961883;195572;17643375;20877624;16344560;22939629;19471022;21139048;21693764;21890473;21906983;21145461;21963094;21988832;22505724 204 F8VPP1;F8VY04;F8VZG5;F8W1A4;G3V213;Q8TCY3 AB005621;AB005622;AB451267;AB451394;ABBA01023387;AK023758;AK291676;AK295105;AK296863;AK297036;AK307731;AL020995;AMYH01000476;AY080899;AY080900;BC009405;BC026705;BC070127;BC090040;BX504559;CH471059;DB206302;DC422465;NG_016269;NM_001199199;NM_001625;NM_013411;NR_037591;NR_037592;U39945;U54645;U84371 AAB41790;AAC13881;AAC52061;AAH09405;AAH70127;AAH90040;AAL87027;AAL87028;BAC16747;BAC16748;BAF84365;BAG58139;BAG59426;BAG59564;BAG70081;BAG70208;EAX07483;EAX07484;EAX07485;EAX07486;NP_001186128;NP_001616;NP_037543;P54819 Hs.470907 1336168;1338346;1682503;1696682;1739207;1793106;2110247;2117612;2136560;2151332;2153144;7185614 AK2__4273;AL009694;D1S2291;D1S241;D1S2676;PMC196577P1;RH70625;RH80838;SHGC-74553;SHGC-83025;STS-AA029315 ADK2;AK 2 AK 2;ATP-AMP transphosphorylase 2;ATP:AMP phosphotransferase;OTTHUMP00000004287;OTTHUMP00000004288;OTTHUMP00000241076;OTTHUMP00000241096;OTTHUMP00000241097;adenylate kinase 2, mitochondrial;adenylate kinase isoenzyme 2, mitochondrial;adenylate monophosphate kinase APPROVED protein-coding ENSG00000004455 362 00047 103020;267500 REVIEWED 737588 AK3 adenylate kinase 3 The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 9 9 9 p24.1 4633666 4666796 - 4701158 4731227 - 4709556 4742043 - 1580863;1300048;5490520;6480464;6907045 16167529 15489334;15164053;14702039;12477932;11485571;182062;19820697;10544043;16344560;20877624;218813;22939629;22412388;19322201;21988832;22139419 50808 Q7Z4Y4;Q9UIJ7 AB021870;ABBA01065419;ABBA01065420;AF086913;AF100785;AF183419;AK001553;AK001951;AK027534;AK098205;AK124824;AK298200;AL136231;AL353151;AMYH01019201;BC013771;BI550730;BI601245;BX640794;CH471071;DA570364;DA718987;NG_028041;NM_001199852;NM_001199853;NM_001199855;NM_001199856;NM_016282 AAG09688;AAH13771;AAP97143;AAP97224;ABM82586;ABM85773;BAA87913;BAA91753;BAA91996;BAB55183;BAG53592;BAG54101;BAG60470;EAW58779;EAW58780;EAW58781;NP_001186781;NP_001186782;NP_001186784;NP_001186785;NP_057366;Q9UIJ7 Hs.732022 1644467;1675951;1678385;1679367;1695334;1735856;1744323;2152245;5014051;5015619;5021872;5022578;5022651;5037552;5093352 A009M22;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D9S987E;G32668;GDB:451685;RH69311;RH69564;RH93015;SHGC-64759;STS-H37837;sY3084 AK3L1;AK6;AKL3L;AKL3L1;FIX AK 3;GTP:AMP phosphotransferase AK3, mitochondrial;GTP:AMP phosphotransferase mitochondrial;GTP:AMP phosphotransferase, mitochondrial;OTTHUMP00000021015;OTTHUMP00000021016;adenylate kinase 3 alpha like;adenylate kinase 3 alpha-like 1;adenylate kinase 3 like 1;adenylate kinase 6, adenylate kinase 3 like 1 APPROVED protein-coding 17376 12439 609290 REVIEWED 6481064 AKAP11-IT1 AKPA11 intronic transcript 1 (non-protein coding) 100874349 AL136527 miscrna 39939 1606591 AK4 adenylate kinase 4 This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 p31.3 65385820 65465765 + 65613232 65697828 + 5134352;2301096;5490520;6480464;6907045 21152904;16538043;16167529 19073142;15489334;12477932;11485571;10544043;9813319;9504419;7140357;1639383;182062;16341674;16344560;19766732;20379614;21832049;23002211;23509962;21900206;19322201;21988832;23474458 205 D3DQ64;P27144 ABBA01074546;ABBA01074547;ABBA01074548;ABBA01074549;AC099680;AK025926;AK026966;AK309057;AK313611;AL356212;AMYH01000684;AMYH01000685;BC016180;BC040224;BC066944;BC136886;BC136887;BC146653;BC148270;BF205061;BG703687;BM763432;BU164554;CH471059;CR456830;DB061266;DR003868;NM_001005353;NM_013410;NM_203464;X60673 AAH16180;AAH40224;AAH66944;AAI36887;AAI36888;AAI46654;AAI48271;ABM83220;ABM86420;BAG36374;CAA43088;CAG33111;EAX06538;EAX06540;EAX06544;NP_001005353;NP_037542;NP_982289;P27144 Hs.10862 1654272;1756401;1771299;1857111;2123561;2146320;2178374;5024717;5093588;5123052 A009S21;AL009904;G16073;G32808;RH70853;SGC34423;SHGC-143375;SHGC-74947;WI-11122;WI-7525 AK 4;AK3;AK3L1;AK3L2;MGC166959 ATP-AMP transphosphorylase;GTP:AMP phosphotransferase;GTP:AMP phosphotransferase AK4, mitochondrial;OTTHUMP00000010594;OTTHUMP00000241178;adenylate kinase 3-like 1;adenylate kinase isoenzyme 4;adenylate kinase isoenzyme 4, mitochondrial;mitochondrial adenylate kinase-3;nucleoside-triphosphate-adenylate kinase APPROVED protein-coding ENSG00000162433 363 00048 103030 REVIEWED 736276 AKAP11 A kinase (PRKA) anchor protein 11 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23903720 23954839 + 41744289 41795402 + 42846289 42897403 + 632175;1580863;2312475;2312477;2312637;6480464 8621616;14715913;19319965;18385542 10209101;17353931;15057823;14702039;12168954;12147701;11823486;11807172;11152471;10864471;9734811;9238861;12672969;19801982;10737800;16344560;21890631;18029348;21139048;21890473;21145461;22504420;23402259;23455922;23667531 11215 Q6AI61;Q9UKA4 AB014529;ABBA01021255;AF176555;AK002166;AK074384;AL136527;AMYH01005072;BE670178;BE694434;CH471075;CR627087;DA780016;NM_016248 AAF07045;AAI56136;AAI72498;BAA31604;BAA92117;CAH10362;EAX08676;EAX08677;NP_057332;Q9UKA4 Hs.105105 1655997;1681530;2115400;5024039;5037552;5109281 D16S325;D1S1425;D8S2279;RH92944;STS-H70800;STS-Z40816 AKAP-11;AKAP220;DKFZp781I12161;FLJ11304;KIAA0629;PPP1R44;PRKA11 A-kinase anchor protein 11;A-kinase anchor protein 220 kDa;A-kinase anchoring protein, 220kDa;AKAP-11;OTTHUMP00000018327;a kinase anchor protein 220 kDa;hAKAP220;protein kinase A anchoring protein 11;protein kinase A-anchoring protein 11;protein phosphatase 1, regulatory subunit 44 APPROVED protein-coding ENSG00000023516 369 05261 604696 REVIEWED 1353587 AK5 adenylate kinase 5 This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p31 75987128 76265178 + 77520330 77798242 + 77747662 78025654 + 1580863;5490520;6480464;6907045 16167529 10215863;15489334;14702039;12477932;16169070;19647735;20379614;18029348;18239623 26289 E9PIS7;E9PQQ8;H0YEZ1;Q9Y6K8 ABBA01074399;ABBA01074400;ABBA01074401;AC093433;AC093575;AC095030;AF062595;AF445193;AK090967;AMYH01000720;AMYH01000721;AMYH01000722;AW665223;AY171600;BC012467;BC033896;BC036666;CH471059;CR541890;DN993295;NM_012093;NM_174858 AAD27956;AAH12467;AAH33896;AAH36666;AAO16520;AAP97322;BAC03558;CAG46688;EAX06377;EAX06378;EAX06379;NP_036225;NP_777283;Q9Y6K8 Hs.559718;Hs.597002 1341164;1658653;1662512;1700366;1723049;2109029;2132693;2148821;2151637;2164971;2175027;2178791;2186202;7186668 A004B41;AFMA114ZD9;AK5_9482;AL009966;D1S1862E;D1S2157;D1S2456;D1S499;G60475;RH103803;SHGC-30349;SHGC-53458;SHGC-75022 AK6;MGC33326 AK 5;ATP-AMP transphosphorylase 5;OTTHUMP00000011354;OTTHUMP00000011355;adenylate kinase 6;adenylate kinase isoenzyme 5 APPROVED protein-coding ENSG00000154027 365 10472 608009 REVIEWED 70080 AKAP10 A kinase (PRKA) anchor protein 10 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012] 17 17 p11.1 19749341 19821721 - 19807765 19881169 - 1580863;2312475;2312477;6480464;7240710 14715913;19319965 9326583;19496216;19209010;19056482;17786291;17485678;17143557;16956908;15489334;15488188;14531806;12646697;12477932;12206784;11807172;11248059;9238861;7505766;16189514;19462906;19578796;19797056;19857670;20159461;20453000;18029348;20877624;22863883;21701445;20171186;15342556;22817328;23092224;22139419 11216 E7EMD6;I3L177;I3L479;I3NI04;J3QL61;J3QR74;J3QRM7;K7EM25;O43572 ABBA01054591;ABBA01054592;AC005730;AC015726;AF037439;AK295180;AK308297;AK312438;AMYH01008239;BC017055;BP229845;CH471212;DQ270159;NG_011493;NM_007202;U00957 AAB92260;AAH17055;ABB76684;ABM82403;ABM85592;BAG35347;BAH12002;EAW50913;NP_009133;O43572 Hs.642676 1734496;2109031;2160800;2181561;2185091 AKAP10_9241;D17S1447E;RH65769;SHGC-53199;WI-19974 AKAP-10;D-AKAP-2;D-AKAP2;MGC9414;PRKA10 A-kinase anchor protein 10, mitochondrial;AKAP-10;D-AKAP-2;OTTHUMP00000065850;a kinase anchor protein 10;dual specificity A kinase-anchoring protein 2;dual-specificity A-kinase anchoring protein 2;mitochondrial A kinase PPKA anchor protein 10;protein kinase A anchoring protein 10;protein kinase A-anchoring protein 10 APPROVED protein-coding ENSG00000108599 368 05259 115080;604694 REVIEWED 1320025 AK7 adenylate kinase 7 14 14 14 q32.2 76914175 77010845 + 95928201 96024865 + 96858448 96955764 + 1580863;6480464;6907045 15489334;14702039;12508121;12477932;20379614;20537283;21080915;22801010;21139048;8889548 122481 G3V365;H0YIY5;Q96M32 ABBA01048590;ABBA01048591;ABBA01048592;ABBA01048593;ABBA01048594;ABBA01048595;AK057426;AL163051;AL359240;AMYH01005977;AMYH01005978;BC023986;BC035256;BM981526;CH471061;NM_152327 ABM82637;ABM85814;BAB71480;EAW81636;EAW81637;EAW81638;EAW81639;EAW81640;NP_689540;Q96M32 Hs.667462 1335033;1744331;2125307;2151981;2154800 D10S1151;G35398;G35577;G35998;GDB:451706 AK 7;FLJ32864 ATP-AMP transphosphorylase 7;OTTHUMP00000246000;adenylate kinase 7;putative adenylate kinase 7 protein-coding ENSG00000140057 20091 10640 615364 VALIDATED 4143131 AKAP16BP A kinase (PRKA) anchor protein 16B, pseudogene X X X q24 118845611 118846351 - 118267298 118275658 - 118390881 118391621 - 6480464 17302988 139516 ABBA01036706;AC004835;AMYH01022880;NG_022632 AKAP16B APPROVED pseudo 38514 INFERRED 1343676 AKAP1 A kinase (PRKA) anchor protein 1 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] 17 17 q22 52517552 52553709 + 55162553 55198710 + 1580863;2312475;2312477;2313128;6480464;6484113 14715913;19319965;18323779 8769136;12223483;18029348;19074462;18786546;18625701;17884635;16344560;15489334;15302935;15143158;14759258;12697839;12634056;12477932;12414807;11807172;11546661;11483602;10995432;10764601;10352013;9238861;9065479;7499250;10413680;8889548;19615732;20877624;20308539;20677014;21832049;23045525;21139048;21890473;23000965;23077346;19750561;21994574;22807343 8165 B4DN86;I3L0K6;I3L0V5;I3L0W0;I3L2A2;I3L2N7;I3L364;I3L3K1;I3L3L9;I3L3V6;I3NI36;Q92667 ABBA01041310;AC007114;AF015910;AK292416;AK297810;AK308397;AMYH01008504;BC000729;BM711930;CB048239;CD172211;CH471109;DA092401;DA455114;NG_029985;NM_001242902;NM_001242903;NM_003488;U34074;X97335 AAB64298;AAC50279;AAH00729;ABM84528;ABW03447;BAF85105;BAG60148;CAA66000;EAW94515;EAW94516;EAW94517;EAW94518;NP_001229831;NP_001229832;NP_003479;Q92667 Hs.463506 1712138;1767072;1783634;1847410;2149689;2160780;2218208;5114061 AKAP1__4276;D17S1372E;D17S1559;G54119;RH69729;RH91665;SHGC-172273;WI-20688 AKAP;AKAP121;AKAP149;AKAP84;D-AKAP1;MGC1807;PPP1R43;PRKA1;SAKAP84;TDRD17 A-kinase anchor protein 1, mitochondrial;A-kinase anchor protein 149 kDa;A-kinase anchor protein, 149kD;AKAP 149;D-AKAP-1;OTTHUMP00000179121;dual specificity A-kinase-anchoring protein 1;dual-specificity A-kinase anchoring protein 1;protein kinase A anchoring protein 1;protein kinase A-anchoring protein 1;protein kinase A1;protein kinase anchoring protein 1;protein phosphatase 1, regulatory subunit 43;spermatid A-kinase anchor protein 84;tudor domain containing 17 APPROVED protein-coding ENSG00000121057 367 03905 602449 REVIEWED 737243 AKAP12 A kinase (PRKA) anchor protein 12 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 q24-q25 151603202 151719602 + 151561134 151679694 + 1580863;2312475;2312477;6480464 14715913;19319965 16751776;10858453;18029348;19210988;18950703;18579430;18554502;18397319;18199717;17577780;17442832;17442483;17200117;17081983;17081159;16762919;16642035;16344560;15923193;15590635;15345747;15258566;14657015;12857743;12477932;11807172;11766078;11316952;11309381;9880537;9604001;9238861;9000000;1522245;20029029;21115911;20979053;19724895;19851296;20018890;20198315;21540461;20364105;20939879;22863883;21310466;21461577;20360068;21900206;21903576;21139048;21890473;21906983;21918680;22584896;23000965;23063527 9590 Q02952;Q86TJ9 AB003476;AB210003;ABBA01025642;ABBA01025643;ABBA01025644;ABBA01025645;ABBA01025646;ABBA01025647;ABBA01025648;ABBA01025649;ABBA01025650;AF001504;AF086250;AK024598;AK307578;AK307673;AK307739;AL033392;AL356535;AL590413;AMYH01016745;BC000188;BC015830;BC022814;BC033829;BC046095;BC047728;BC070151;BC117679;BC117680;CH471051;CN480611;CR749527;CR936604;DA055364;DQ584338;M96322;NG_029875;NM_005100;NM_144497;U81607 AAA35931;AAB58938;AAC51366;AAH47728;AAH70151;AAI56287;AAI57068;BAA19927;BAE06085;CAH18338;CAI56750;EAW47753;EAW47754;EAW47755;NP_005091;NP_653080;Q02952 Hs.371240 1669737;1684158;1713089;1730321;1777106;1778913;1779021;1847786;2106415;2119889;2120062;2131846;2180842 AKAP12__4277;D6S1869;D6S320E;D6S476;RH120332;RH1532;RH48460;RH94092;SHGC-30338;SHGC-31130;SHGC-33357;SHGC-34852;STS-M96322 AKAP250;DKFZp686M0430;DKFZp686O0331;FLJ20945;FLJ97621;SSeCKS A-kinase anchor protein 12;A-kinase anchor protein 250 kDa;A-kinase anchor protein, 250kDa;AKAP 250;AKAP-12;OTTHUMP00000017426;OTTHUMP00000017427;Src-Suppressed C Kinase Substrate;kinase scaffold protein gravin;myasthenia gravis autoantigen gravin APPROVED protein-coding ENSG00000131016 370 05263 604698 REVIEWED 1353822 AKAP14 A kinase (PRKA) anchor protein 14 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] X X X q24 119484561 119509308 + 118913964 118938707 + 119029936 119054679 + 2312475;2312477;6480464 14715913;19319965 15489334;12477932;12475942;11329013 158798 A6NNZ0;Q86UN6 ABBA01036613;ABBA01036614;ABBA01110425;ABBA01179529;AC002477;AF514780;AF514781;AF514782;AMYH01022886;BC066357;BG208671;CH471161;NG_013218;NM_001008534;NM_001008535;NM_178813 AAH66357;AAP20825;AAP20826;AAP20827;EAW89839;NP_001008534;NP_001008535;NP_848928;Q86UN6 Hs.592245 1773606;1774114;2123204;5114008 RH18491;RH47102;RH92064;WI-17367 AKAP28;PRKA14 A-kinase anchor protein 14;A-kinase anchor protein 28 kDa;A-kinase anchoring protein 28;AKAP 28;AKAP-14;OTTHUMP00000023927;OTTHUMP00000023928;OTTHUMP00000023929;protein kinase A-anchoring protein 14 APPROVED protein-coding ENSG00000186471 24061 02353 300462 REVIEWED 736118 AKAP13 A kinase (PRKA) anchor protein 13 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012] 15 15 q24-q25 83724875 84093590 + 85923847 86292589 + 2312475;2312477;6480464 14715913;19319965 1860836;1618839;16301118;17353931;8290273;9891067;18519826;18445682;18093280;17878165;17081983;16964243;16956908;16469733;16412732;16234258;15691829;15489334;15324660;15249197;15229649;14702039;14660653;14636890;12972258;12672969;12663445;12477932;12423633;12270917;11696353;11579095;11546812;11285229;11278452;9627117;7929081;11756498;12376548;12787561;19696020;19779964;19888694;19911011;19960345;20353833;20379614;15383279;18029348;20936779;20719862;20696764;21102438;21224381;21228793;21139048;21890473;22161024;23045525;23090968;23291589;22731613 11214 A8MYJ1;B0AZU4;H0YK18;H0YK84;H0YLH1;H0YMI5;H0YMW2;Q9Y5T6 AB055890;AB209414;ABBA01052961;ABBA01052962;ABBA01052963;ABBA01052964;ABBA01052965;ABBA01052966;ABBA01052967;ABBA01052968;AC021739;AC087286;AC104046;AC110592;AF086293;AF126008;AF387101;AF406992;AK022014;AK026186;AK091210;AK125331;AK307618;AK309805;AK315885;AL133426;AL133427;AL133429;AL133430;AL135297;AMYH01006893;AMYH01006894;AMYH01006895;AMYH01006896;AMYH01006897;BC000269;BC009213;BC017368;BC019662;BC040109;BC050312;BC063592;BC089394;BC140862;BC171798;CA306665;CH471101;M90360;NM_001270546;NM_006738;NM_007200 AAA58670;AAD21311;AAH50312;AAI40863;AAI71798;AAI72356;AAL11723;AAL40923;BAB62913;BAD92651;BAF98776;EAX01973;EAX01974;EAX01975;EAX01976;NP_001257475;NP_006729;NP_009131;Q12802 Hs.459211;Hs.710656 1334766;1654266;1663226;1682109;1682944;1693484;1715643;1718225;1728485;1756327;1757675;1761215;1767784;1783200;1783202;1848591;2118503;2142752;2162269;2168769;2172333;2172335;2218206;5020274;5023733;5109281 168XA11;A006F31;AKAP13__4278;AU048745;D15S932;D15S999;D1S1425;G20767;G63680;L18441;RH119267;RH122882;RH47095;RH70067;RH92626;RH92649;SHGC-143312;SHGC-145225;SHGC-146217;SHGC-148480;SHGC-149380;SHGC-53698;SHGC-58194;SHGC-58426;STS-H98167;WI-16595 AKAP-13;AKAP-Lbc;ARHGEF13;BRX;FLJ11952;FLJ43341;HA-3;Ht31;LBC;PRKA13;PROTO-LB;PROTO-LBC;c-lbc;p47 A-kinase anchor protein 13;A-kinase anchoring protein;AKAP-13;LBC oncogene;breast cancer nuclear receptor-binding auxiliary protein;guanine nucleotide exchange factor Lbc;human thyroid-anchoring protein 31;lymphoid blast crisis oncogene;non-oncogenic Rho GTPase-specific GTP exchange factor;p47;protein kinase A-anchoring protein 13 APPROVED protein-coding ENSG00000170776 371 05253 604686 REVIEWED 1312990 AKAP2 A kinase (PRKA) anchor protein 2 The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 9 9 9 q31.3 83312619 83436417 + 111850797 111974613 + 112810878 112934792 + 2312475;2312477;6480464 14715913;19319965 17474147;19893584;20306291;18978678;18649358;17081983;16344560;15146197;14702039;12477932;11478809;10231032;9497389;12646697;12672969;11181995;22863883;21906983;22456796 11217 C9JVY5;F8WF36;Q9Y2D5 ABBA01042752;AJ420463;AK000306;AK022693;AK057098;AK300427;AK304311;AK308388;AL110268;AL158823;AL353598;AMYH01021625;AMYH01021626;BC010513;BC146863;BC171800;BE674805;CH471105;CN302358;CX872067;DA564383;DB212465;DB287164;DC422367;N51499;NG_028265;NM_001004065;NM_001136562;NM_001198656 AAI46864;AAI71800;BAG51862;BAG62154;BAG65164;CAB53707;EAW59049;EAW59050;NP_001004065;NP_001130034;NP_001185585;Q9Y2D5 Hs.591908 1656172;1699026;1700112;1704536;1711454;1727381;1749595;1753827;1755889;1779502;2122605;2185400;5105685 G36153;G47279;G63098;RH103086;RH103669;SHGC-100579;SHGC-111282;SHGC-142729;SHGC-142818;SHGC-153477;SHGC-83065;STS-AA007589;STS-AA040279 AKAP-2;AKAPKL;DKFZp564L0716;FLJ53197;FLJ98336;PALM2;PRKA2 A-kinase anchor protein 2;AKAP-2;OTTHUMP00000021891;OTTHUMP00000210714;OTTHUMP00000215854;protein kinase A anchoring protein 2;protein kinase A-anchoring protein 2;protein kinase A2 APPROVED protein-coding ENSG00000241978 372 604582 REVIEWED 1348905 AKAP3 A kinase (PRKA) anchor protein 3 This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013] 12 12 p13.3 4594937 4624604 - 4724676 4754343 - 1580863;2312475;2312477;6480464 14715913;19319965 10319321;17683036;16005946;15257753;14618620;12606363;12509440;12477932;11807172;11696326;11278869;10529264;10334916;9238861;18421703;21240291;16344560;22941507;23077236 10566 F5H2S4;F5H7P4;O75969 ABBA01048764;AC005832;AF087003;AF093408;AI004486;AK074722;AK292451;AMYH01004197;BC047535;CH471116;DB083340;NM_001278309;NM_006422;U85715 AAC35854;AAC63371;AAD21218;AAH47535;BAF85140;BAG51992;EAW88840;NP_001265238;NP_006413;O75969 Hs.98397 1676530;2108689 AKAP3_9143;RH92971 AKAP 110;AKAP110;CT82;FSP95;PRKA3;SOB1 A-kinase anchor protein 110 kDa;A-kinase anchor protein 3;A-kinase anchor protein, 110kDa;AKAP 110;AKAP-3;Fibrous Sheath Protein of 95 kDa;OTTHUMP00000238368;cancer/testis antigen 82;fibrous sheath protein, 95kDa;fibrousheathin 1;fibrousheathin I;fibrousheathin-1;protein kinase A anchoring protein 3;protein kinase A binding protein AKAP 110;protein kinase A-anchoring protein 3;sperm oocyte-binding protein 1 APPROVED protein-coding ENSG00000111254 373 05256 604689 REVIEWED 1606031 AKAP17A A kinase (PRKA) anchor protein 17A This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010] X X;Y X;Y p22.33 and Yp11.32 5988649 5999070 + 1670486 1681413 + 1660486 1671413 + 6480464 16982639;17353931;1438229;17081983;15489334;14759258;12477932;9736779;8889548;1302606;16189514;19840947;21139048 8227 Q02040;Q05DA9 ABBA01055713;AK308367;AL683807;AMYH01022001;BC015800;BC016935;BC028151;BC110496;BC110497;BM046630;BM713425;CH471074;L03426;M99578;NG_016337;NG_021470;NM_005088;NR_027383 AAA36187;AAA61303;AAA61304;AAH16935;AAH28151;AAI10497;AAI10498;EAW98687;NP_005079;Q02040 Hs.522572 1683403;1748463;1848069;2177147;5017879 CXYorf3;DXYS155E;RH69211;SHGC-5417;SHGC-64829 721P;AKAP-17A;CCDC133;CXYorf3;DXYS155E;FLJ98315;MGC125365;MGC125366;MGC39904;PRKA17A;SFRS17A;XE7;XE7Y A-kinase anchor protein 17A;B-lymphocyte surface antigen;OTTHUMP00000022831;OTTHUMP00000022832;OTTHUMP00000022833;protein kinase A-anchoring protein 17A;pseudoautosomal gene XE7;splicing factor, arginine/serine-rich 17A APPROVED protein-coding ENSG00000197976 18783 02419 312095;465000 REVIEWED 732830 AKAP4 A kinase (PRKA) anchor protein 4 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X p11.2 54024511 54034765 - 49842151 49852404 - 49955411 49965664 - 1580863;2312475;2312477;6480464 14715913;19319965 9822690;12509440;17712481;17683036;15772651;15489334;12606363;12477932;11807172;11476771;9852104;9514854;9238861;21520158 8852 A6ND82;Q5JQC9 ABBA01063330;ABBA01063331;AC235789;AF072756;AK292463;AL663119;AMYH01022326;AMYH01022327;BC033007;BC070150;BC126250;BC126252;CH471180;HC006776;HC044697;NG_012552;NM_003886;NM_139289;Y15195 AAC79433;AAI26251;AAI26253;BAF85152;CAA75494;CBH19194;CBH30678;EAW89924;EAW89925;EAW89926;NP_003877;NP_647450;Q5JQC9 Hs.97633 1686470;2107819;5022798 AKAP4;AKAP4_8867;RH92753 AKAP 82;AKAP-4;AKAP82;CT99;FSC1;HI;PRKA4;hAKAP82;p82 75 kda fibrous sheath protein;A-kinase anchor protein 4;A-kinase anchor protein 82 kDa;OTTHUMP00000023288;OTTHUMP00000023289;OTTHUMP00000023290;OTTHUMP00000023291;cancer/testis antigen 99;major sperm fibrous sheath protein;protein kinase A anchoring protein 4;protein kinase A-anchoring protein 4;testis-specific gene HI APPROVED protein-coding ENSG00000147081 374 02173 300185 REVIEWED 1345297 AKAP5 A kinase (PRKA) anchor protein 5 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008] 14 14 q23.3 64001970 64010974 + 64932217 64941221 + 1580863;2313287;2312475;2312477;2313290;2313247;6480464 10460255;14715913;19319965;11248077;12542670 22693956;12507994;12477932;12177200;12114507;12077483;11886862;11823486;11807172;11557526;11287423;11179200;10939335;10762347;10753752;10537145;10037748;9765270;9238861;9202019;8509414;7528941;1860836;1733921;1618839;1512224;18950703;18305116;17548344;16973443;16940053;16344560;15671033;12938160;12672969;12595241;17081159;18311135;20410303;20883492;21156788;21464287;21221125;23699529;21771783;21139048;22343722;23264624;22623657;23383244;23455922;23616546;22677788 9495 P24588;Q6PG46 ABBA01018362;AK315336;AL122035;AMYH01005799;BC057229;BC131516;CH471061;DA942424;M90359;NM_004857 AAA58363;AAH57229;AAI31517;BAG37736;EAW80862;NP_004848;P24588 Hs.656683 1669365;1776335;2136104;2218210;5014051;5015961;5016596;5022200;5037552;5116670 AKAP5__4279;D15S1477;D8S2278;D8S2279;G35386;GDB:631802;L18426;RH17748;SHGC-24381;sY3122 AKAP75;AKAP79;H21 A-kinase anchor protein 5;A-kinase anchor protein 79 kDa;A-kinase anchor protein, 79kDa;A-kinase anchoring protein 75/79;AKAP 79;AKAP-5;OTTHUMP00000174435;cAMP-dependent protein kinase regulatory subunit II high affinity binding protein;cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein APPROVED protein-coding 375 05255 604688 REVIEWED 69458 AKAP6 A kinase (PRKA) anchor protein 6 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] 14 14 14 q12 12665076 13167767 + 31868274 32372018 + 32798479 33302268 + 1580863;2312475;2312477;68716;6480464 14715913;19319965;11296225 19109240;10413680;10830164;7721854;17923693;15342556;14702039;12754202;12477932;12168954;11807172;11352932;9238861;9205841;12672969;20677014;21079607;17474147;20106966;11299204;11590243;16177794;17110338;21150319;9679148;15840729;17043677;22566634;22581228 9472 A7E242;B2RP22;G3V3B5;G3V3H2;G3V3H6;G3V3H7;G3V569;H0YJT7;Q13023 AB002309;ABBA01061432;ABBA01061433;ABBA01061434;ABBA01061435;ABBA01061436;AK094160;AL049781;AL117672;AL132988;AL136298;AMYH01005645;AMYH01005646;BC137232;BC137233;BC150185;BC150288;BC154413;BP230135;CH471078;NM_004274;U17195 AAA92354;AAI37233;AAI37234;AAI50186;AAI50289;AAI54414;BAA20770;EAW65931;EAW65932;EAW65933;NP_004265;Q13023 Hs.509083 1341133;1654236;1655120;1663304;1688312;1709950;1719371;1736464;1772328;1772389;1774223;2141563;2160398;2218984 AKAP6__4280;D14S121;D14S1236;D14S717E;G17798;G36054;L18177;RH123413;RH45526;RH69589;RH91259;SHGC-37333;SHGC-82243;WI-14096 ADAP100;ADAP6;AKAP100;KIAA0311;MGC165020;PRKA6;mAKAP A-kinase anchor protein 100 kDa;A-kinase anchor protein 6;AKAP 100;AKAP-6;OTTHUMP00000178791;OTTHUMP00000244101;OTTHUMP00000244103;protein kinase A anchoring protein 6;protein kinase A-anchoring protein 6 APPROVED protein-coding ENSG00000151320 376 05257 604691 REVIEWED 1350760 AKAP7 A kinase (PRKA) anchor protein 7 This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011] 6 6 6 q23 132213109 132351308 + 131508154 131646366 + 131456826 131604675 + 1580863;2312475;2312477;2312630;1303982;2312656;6480464 14715913;19319965;17901878;15037626;18431594 9545239;10613906;18082768;17244820;15489334;14574404;12804576;12672969;12477932;22670899;17643375;19615732;20379614;16344560;23502783;11299204;23455922 9465 F5GXD1;F5H4P9;H0YH01;J3KN37;O43687;Q2TAJ5;Q6P4D3;Q9P0M2 AB451273;AB451400;ABBA01025896;AF152929;AF161075;AK290271;AK300587;AK311820;AL136110;AL137063;AL137222;AMYH01016673;AMYH01016674;AW236482;BC016927;BC063499;BC073847;BC094732;BC110897;BC118601;BC118606;BC128398;BC128399;BC141926;BC141927;CH471051;DA144596;DN998807;NG_029123;NM_004842;NM_016377;NM_138633 AAF26676;AAF28106;AAH16927;AAH63499;AAH73847;AAH94732;AAI10898;AAI18602;AAI18607;AAI28399;AAI28400;AAI41927;AAI41928;AAI52941;AAI56907;BAF82960;BAG34762;BAG62285;BAG70087;BAG70214;EAW48057;EAW48058;EAW48059;EAW48060;NP_004833;NP_057461;NP_619539;O43687;Q9P0M2 Hs.486483;Hs.732515 1338849;1658069;1681324;1763529;1852545;1856918;2156479;2166896;2191487;5019623 A005L17;D11S2302E;D6S1214E;D6S435;G32235;MARC_23907-23908:1042828544:1;RH26812;RH78380;SHGC-147229;SHGC-1826 AKAP15;AKAP18 A-kinase anchor protein 18 kDa;A-kinase anchor protein 7 isoform alpha;A-kinase anchor protein 7 isoform gamma;A-kinase anchor protein 7 isoforms alpha and beta;A-kinase anchor protein 7, isoform alpha;A-kinase anchor protein 9 kDa;A-kinase anchor protein, 18-kD;A-kinase anchoring protein 18;AKAP 18;AKAP-7 isoform gamma;AKAP-7 isoforms alpha and beta;OTTHUMP00000017200;OTTHUMP00000017201;OTTHUMP00000017202;OTTHUMP00000239966;PRKA7 isoform gamma;PRKA7 isoforms alpha/beta;protein kinase A anchoring protein 7;protein kinase A-anchoring protein 7 isoform gamma;protein kinase A-anchoring protein 7 isoforms alpha/beta APPROVED protein-coding ENSG00000118507 377 16065 604693 REVIEWED 731444 AKAP8 A kinase (PRKA) anchor protein 8 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] 19 19 p13.1 15325335 15351603 - 15464332 15490612 - 1580863;2312475;2312477;6480464 14715913;19319965 9473338;18029348;17081983;16964243;16227597;15302935;15057824;14743216;14641107;12740381;12477932;12414807;11964380;11807172;11279182;10791967;10601332;9238861;21145461;15470020;19277197;21182205;22990118;20508642;21252943;17314511;19322201;20360068;22446626;17400507;22944692 10270 M0QX51;M0QYL4;O43823 ABBA01051110;AC005785;AC093060;AI581319;AK303640;AK308251;AK309529;AL050160;AMYH01009549;AMYH01009550;AMYH01009551;BC037270;CA429585;CH471106;DR005936;NM_005858;Y11997 AAC62838;AAH37270;BAH14004;CAA72722;CAB43301;EAW84474;NP_005849;O43823 Hs.743430 1699724;2107821;2148325;2186052;5017803 AKAP8;AKAP8_9079;RH103467;RH48708;WI-17314 AKAP 95;AKAP-8;AKAP-95;AKAP95;DKFZp586B1222 A-kinase anchor protein 8;A-kinase anchor protein 95 kDa;A-kinase anchor protein, 95kDa;AKAP 95;AKAP-8 APPROVED protein-coding ENSG00000105127 378 05258 604692 REVIEWED 1604680 AKD1 adenylate kinase domain containing 1 6 q21 109955525 109978433 - 12477932;11181995 401271 E9PPM3;E9PPU7;F8WBV8;H0Y8C5;H0YCD1;H7C505;H7C517;J3KP89 AK131244;AL109947;AL121788;AL139391;BC087860;CH471051;NM_001001706;NM_001146303 AAH87860;AAI46444;AAI53056;BAD18424;EAW48336;NP_001001706;NP_001139775;Q6ZNF1 Hs.205144 1679764;1715447;1718753;2113814 AB069993;RH120887;RH123066;RH94382 FLJ42177 protein-coding 33814 16957 2300995 AKIRIN2-AS1 AKIRIN2 antisense RNA 1 6 6 6 q15 88828036 88828949 - 88466739 88467652 - 88410020 88410933 - 6480464 55389 AL133211;AL525197;BX101313;CH471051;NR_002767 EAW48579 Hs.485915 NCRNA00120;PRO2266 APPROVED miscrna 28822 1354002 AKD2 adenylate kinase domain containing 2 6 q21 110059592 110119113 - 6480464 16344560;14702039;12477932 221264 Q8N7C6 AK055538;AK124171;AK315561;AL121788;AL133472;AL832162;BC022031;CH471051;DA106296;DW009925;NG_007977;NM_001145128;NM_145025 AAH22031;ACE86533;ACE87212;BAB70945;BAG37937;CAI19667;CAI19668;CAI22498;CAI22499;CAI22500;EAW48333;EAW48334;EAW48335;NP_001138600;NP_659462;Q5TCS8;Q5TDU3 Hs.486169 C6orf199;FLJ34784;FLJ42177;MGC26954;RP1-70A9.1;dJ70A9.1 protein-coding 21618 12871 1349720 AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008] 7 7 q21-q22 91408128 91577925 + 91570189 91739987 + 631928;1580863;2312475;2312477;6480464;7240710 9482789;14715913;19319965 10390370;10202149;19242490;19086053;19073175;18334708;18093912;17352745;16741161;16356588;16339516;16198290;15670215;15630448;15047863;14982933;14702039;12853948;12690205;12477932;12270714;12221128;12163479;12036294;12015314;11799244;10945988;10862698;10358086;9915845;9872452;12672969;11076968;12852856;16462731;16980960;17148452;18029348;20106900;20231423;20379614;20453000;7790358;20952690;21606206;21374596;21988832;17043677;18239623;21139048;21890473;21931171;20301308;18643869;20466722;22190034;22778270;22908311 10142 H0Y6Q0;H7BYL6;H7BZV6;Q5GIA7;Q6PJH3;Q9UQH3 AACC02000014;AB018346;AB019691;ABBA01045811;ABBA01045812;ABBA01045813;ABBA01045814;ABBA01045815;ABBA01045816;ABBA01045817;AC000066;AC000120;AC003086;AC004013;AF026245;AF083037;AF091711;AF247727;AJ010770;AJ131693;AK000270;AK025160;AK026444;AK057546;AK074869;AL117418;AMYH01017688;AMYH01017689;AY528715;BC015533;BC027455;BC040932;BC062448;CH236949;CH471091;CR997756;NG_011623;NM_005751;NM_147185 AAB86384;AAB96867;AAC60380;AAD22767;AAD39719;AAH15533;AAH40932;AAK51115;AAS07419;AAT44400;BAA34523;BAA78718;BAG52021;CAA09361;CAB40713;CAB55912;EAL24155;EAL24156;EAL24157;EAL24158;EAW76860;EAW76861;EAW76862;EAW76863;EAW76864;EAW76865;EAW76866;EAW76867;EAW76868;NP_005742;NP_671714;Q99996 Hs.651221 1339654;1646788;1655710;1667910;1691312;1691444;1691446;1691448;1691450;1691452;1691454;1695046;1772034;1786194;2133617;2139016;2155593;2166065;5109667;5118444;5491577 D11S3316;D7S1789;D7S2153E;D7S2313;D7S2653;D7S2654;G31811;G31814;G42119;G42120;G42121;G42122;G42123;G42124;G44753;MARC_21662-21663:1033410511:1;RH68133;RH80300;SHGC-105142;SHGC-31096;SHGC-36444 AKAP-9;AKAP350;AKAP450;CG-NAP;HYPERION;KIAA0803;LQT11;MU-RMS-40.16A;PPP1R45;PRKA9;YOTIAO A-kinase anchor protein 350 kDa;A-kinase anchor protein 450 kDa;A-kinase anchor protein 9;AKAP 120-like protein;AKAP9-BRAF fusion protein;OTTHUMP00000161771;centrosome- and Golgi-localized PKN-associated protein;kinase N-associated protein;protein hyperion;protein kinase A anchoring protein 9;protein phosphatase 1, regulatory subunit 45;protein yotiao APPROVED protein-coding ENSG00000127914 379 04921 604001;611820 REVIEWED 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like 19 19 p13.12 15351859 15390833 - 15490859 15529833 - 1580863;6480464 10748171;17353931;18313049;10761695;17594903;16391387;15489334;21145461;15302935;14743216;14702039;12950172;12538639;12477932;12107412;11402034;11034899;10697960;9853615;8889548;8125298;22990118;17314511;21252943;18457437;20360068;21139048;21890473;21906983;22190034 26993 M0QXD2;M0QYT7;M0QZQ9;M0R008;M0R010;M0R1L5;M0R1Y5;Q9ULX6 AB015332;AB025905;AB451326;AB451469;ABBA01051110;ABBA01051111;ABBA01051112;AC005785;AC006128;AF199414;AJ243467;AK001594;AK094736;AK225046;AK225291;AK295956;AK310990;AL133576;AMYH01009551;AMYH01009552;BC000713;BI458860;BM726437;BQ006924;BQ185989;BU740636;CD672169;CH471106;NM_014371 AAF86048;AAH00713;ABM82779;ABM85969;BAA34791;BAA85003;BAG50946;BAG58736;BAG70140;BAG70283;CAB63723;CAB65092;EAW84475;EAW84476;EAW84477;EAW84478;NP_055186;Q9ULX6 Hs.399800 1699724;1700124;1725091 RH103467;RH103675;RH118841 DKFZp434L0650;HA95;HAP95;NAKAP;NAKAP95 A-kinase anchor protein 8-like;AKAP8-like protein;helicase A-binding protein 95 kDa;homologous to AKAP95 protein;neighbor of A kinase anchoring protein 95;neighbor of A-kinase anchoring protein 95;neighbor of A-kinase-anchoring protein 95;neighbor of AKAP95 protein-coding ENSG00000011243 29857 10641 609475 VALIDATED 1606232 AKIRIN1 akirin 1 1 1 1 p34.3 37736663 37751818 + 39229504 39243566 + 39456916 39471737 + 6480464 16710414;15489334;14702039;12477932;8125298;18066067;19322201;18029348 79647 B4DQP0;H0YEQ5;Q9H9L7 ABBA01023227;ABBA01023228;AK022728;AK092624;AK124799;AK126262;AK223276;AK298890;AK303098;AL606465;AMYH01000516;AY326465;BC001498;BC119745;BC119746;CH471059;DB727813;NM_001136275;NM_024595 AAI19746;AAI19747;AAR99515;BAB14208;BAD96996;BAG61002;BAG64208;EAX07283;EAX07284;EAX07285;NP_001129747;NP_078871;Q9H9L7 Hs.293563 1655576;1689440;1691034;1693210;1788762;1849222 A004A36;AL033558;RH130590;RH64534;RH64664;RH80001 C1orf108;FLJ12666;RP11-781D11.2;STRF2 OTTHUMP00000008669;OTTHUMP00000232306;OTTHUMP00000232307;OTTHUMP00000232308;akirin-1 protein-coding ENSG00000174574 25744 07787 615164 VALIDATED 1317844 AKNA AT-hook transcription factor 9 9 9 q32 87744104 87804342 - 116136250 116196506 - 117096429 117156685 - 6480464 15869410;14702039;12477932;11853319;11268217;16000308;20507260;19913121;20628086;21297967;21139048;21890473 80709 Q64FY1;Q64FY2 AB075848;ABBA01042667;ABBA01042668;ABBA01042669;AF286341;AK024431;AK055563;AK074040;AK090503;AK098036;AK126136;AK131082;AK160382;AL356796;AL713755;AL833220;AMYH01021673;AMYH01021674;AY703039;AY703040;AY703041;AY703042;AY703043;AY703044;AY703045;AY703046;BC042202;BC055285;CH471090;NM_030767 AAH42202;AAH55285;AAK83024;AAU34186;AAU34187;AAU34188;AAU34189;AAU34190;AAU34191;AAU34192;AAU34193;BAB15721;BAB84866;BAB85554;BAC85132;BAD18725;EAW87418;EAW87419;NP_110394;Q7Z591 Hs.494895 1656047;1661142;1677150;1849057;2122571;5020740;5020948;5022578;5024413;5024516;5037740 D13S1568;D1S1423;D1S3691;G17343;G30174;G35510;L17809;L17877;RH65860;RH98264;STS-X05784 FLJ31001;FLJ33184;KIAA1968;RP11-82I1.4 AKNA transcript F2;AT-hook transcription factor AKNA;AT-hook-containing transcription factor;OTTHUMP00000021973;OTTHUMP00000021974;OTTHUMP00000123514 protein-coding ENSG00000106948 24108 16148 605729 VALIDATED 7240879 AKR1B10P1 aldo-keto reductase family 1, member B10 pseudogene 1 10 q21.3 69510042 69510987 + 340888 ABBA01019548;AL607022;AMYH01002794;NG_022180 pseudo 45062 INFERRED 7240883 AKR1B10P2 aldo-keto reductase family 1, member B10 pseudogene 2 643582 ABBA01056269;AC005909;AMYH01009071;NG_022495 1783754 SHGC-172083 pseudo 45063 INFERRED 1315871 AKIP1 A kinase (PRKA) interacting protein 1 This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.3 9052466 9061391 + 8889277 8898202 + 8932701 8941626 + 6480464 15630084;18178962;15489334;14702039;12527432;12477932;11528127;19913121;20628086;17207965;20562110;15342556;16998474;22990118;18624398;8889548;19322201 56672 B4DGE2;E9PN38;E9PNI1;E9PPN7;H0YCH8;Q9NQ31 ABBA01061203;AC026894;AF493783;AF493784;AF493785;AF493786;AF512007;AJ400877;AK075308;AK294506;AK294549;AMYH01003377;AW340643;BC030996;BM706322;BP355293;CH471064;CQ783908;DB570956;NG_030417;NM_001206646;NM_001206647;NM_001206648;NM_020642;NR_045417;NR_045418 AAH30996;AAM12862;AAM12863;AAM12864;AAM12865;AAM12866;AAM12867;AAM34785;ADQ32228;BAC11537;BAG57722;BAG57753;CAB92290;CAF86919;EAW68614;EAW68615;EAW68616;NP_001193575;NP_001193576;NP_001193577;NP_065693;Q9NQ31 Hs.131180 1685131;2116397;5014051;5037552 D8S2278;D8S2279;RH93941;SHGC-76220 BCA3;C11orf17 A-kinase-interacting protein 1;OTTHUMP00000230630;OTTHUMP00000230631;OTTHUMP00000230632;OTTHUMP00000230633;OTTHUMP00000230634;OTTHUMP00000230635;OTTHUMP00000230636;OTTHUMP00000230637;OTTHUMP00000230638;OTTHUMP00000230639;OTTHUMP00000230640;PKA-interacting protein;breast cancer associated gene 3;breast cancer-associated gene 3 protein;koyt binding protein 1;koyt binding protein 2;koyt binding protein 3;proline-rich protein BCA3;protein kinase A-interacting protein 1 APPROVED protein-coding ENSG00000166452 1170 12380 609191 REVIEWED 1317188 AKIRIN2 akirin 2 6 6 6 q15 88802600 88830001 - 88441693 88468645 - 88384578 88411985 - 2306009;6480464 18460465 18066067;17081983;16189514;15489334;14702039;14574404;12477932;8125298;23382074;21139048;19322201 55122 Q53H80;Q9NW35 ABBA01040504;AK001204;AK222701;AL133211;AMYH01016494;BC000764;BC003042;BC005051;BM996262;CH471051;CQ859732;NM_018064 AAH00764;AAH03042;AAH05051;BAA91551;BAD96421;CAH25916;EAW48578;NP_060534;Q53H80 Hs.485915 C6orf166;FBI1;FLJ10342;dJ486L4.2 OTTHUMP00000016836;akirin-2;fourteen-three-three beta interactant 1 protein-coding ENSG00000135334 21407 12864 615165 VALIDATED 1604964 AKNAD1 AKNA domain containing 1 This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 107628098 107669293 - 109160046 109201239 - 109358520 109400864 - 6480464 21832049;14702039;12477932;20379614;18029348;16344560 254268 B4DET8;F2Z2Q7;Q5T1N1;Q5T1N2 ABBA01068354;ABBA01068355;AK095517;AK313772;AL449266;AL832216;AMYH01000926;BC030647;BC150642;CH471122;DB054557;NG_032762;NM_152763;NR_049760 AAH30647;AAI50643;ABM82553;ABM85744;BAC04565;BAG36510;EAW56333;EAW56334;EAW56335;EAW56336;EAW56337;EAW56338;NP_689976;Q5T1N1 Hs.729441;Hs.744647 C1orf62;MGC26989;RP11-475E11.3 OTTHUMP00000012936;OTTHUMP00000012937;OTTHUMP00000013003;OTTHUMP00000013004;protein AKNAD1 APPROVED protein-coding ENSG00000162641 28398 11325 REVIEWED 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 1 1 1 q42.12 197952705 197953892 + 222828759 222829714 + 224762103 224763290 + 8244370 401982 ABBA01009684;AC096537;AMYH01001769;NG_006432 ALDRL1 pseudo 420 INFERRED 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 11 11 11 p15.1 16632370 16633567 - 16461835 16462794 - 16505059 16506256 - 8244370 729347 ABBA01061086;AC100865;AMYH01003408;NG_007132 ALDRL3 pseudo 422 INFERRED 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 3 3 3 p12 74120460 74122119 + 74267571 74269166 + 74185078 74186739 + 8244370;1612607 236 ABBA01030975;AC117458;AMYH01013285;M84454;NG_001071 1743081 GDB:251788 ALDRP pseudo 425 INFERRED 3207496 AKR1B1P6 aldo-keto reductase family 1, member B1 pseudogene 6 18 18 18 p11.22 8429987 8431097 + 8535647 8536757 + 8545647 8546757 + 100129769 ABBA01049934;AMYH01008798;AP001793;NG_017129 pseudo 33498 INFERRED 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 13 13 13 q14.13 27316188 27317297 - 45159720 45160607 - 46261525 46262634 - 8244370 390402 ABBA01050980;AL139320;AMYH01005092;NG_006989 ALDRL4 pseudo 423 INFERRED 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 14 14 14 q23.1 39651600 39652860 - 58671955 58672890 - 59601909 59603169 - 390482 ABBA01018269;AL359219;AMYH01005764;NG_007013 AKR1B1P pseudo 20002 INFERRED 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 X X X q23 115962985 115963926 - 115088764 115089705 + 115174736 115175677 + 392525 ABBA01049289;AL772226;AMYH01022870;BX546470;NG_009682 pseudo 33496 INFERRED 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 19 19 19 q13.11 30544773 30545941 - 38543243 38544192 - 33851203 33852371 - 126242 ABBA01012594;AC008744;AMYH01009704;NG_009664 2155654 GDB:4585363 pseudo 33497 INFERRED 68486 AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011] 1 1 p33-p32 45789085 45808308 + 46016455 46035723 + 1300048;6480464;6907045 2498333;15231747;19423521;18676680;18495158;17149600;16543247;15769597;15489334;15299353;12477932;11716357;11444797;10510318;10486210;10393438;9693960;8405190;8268209;7827091;7669785;3615425;2113526;1901806;1602151;19170196;19625176;19692168;20453000;16344560;21276435;21044950;21139048;21906983;23643085 10327 P14550;Q5T621 ABBA01050863;ABBA01050864;AF036683;AF112482;AF112485;AK293083;AK307068;AK307237;AK307288;AL355480;AMYH01000574;AU142853;BC000670;BC005394;BC033287;BI549149;BT007003;BU631634;CH471059;CR457010;CX788871;DA550374;DA871469;J04794;NM_001202413;NM_001202414;NM_006066;NM_153326 AAA51711;AAB92369;AAF01260;AAH00670;AAH05394;AAP35649;ABM81608;ABM84696;ABM84791;BAF85772;CAG33291;EAX06970;EAX06971;EAX06972;EAX06973;EAX06974;NP_001189342;NP_001189343;NP_006057;NP_697021;P14550 Hs.474584;Hs.721160 1660695;1742059;1754485;2132167;5014051;5015619;5021872;5023391;5037552 D11S3114;D1S3175;D8S2278;D8S2279;GDB:190072;RH71342;SHGC-132757;SHGC-74752;sY3084 ALDR1;ALR;ARM;DD3;MGC12529;MGC1380 OTTHUMP00000009240;OTTHUMP00000009241;alcohol dehydrogenase;alcohol dehydrogenase [NADP(+)];alcohol dehydrogenase [NADP+];aldehyde reductase;aldo-keto reductase family 1 member A1;dihydrodiol dehydrogenase 3 APPROVED protein-coding ENSG00000117448 380 00069 103830 REVIEWED 3516654 AKR1B15 aldo-keto reductase family 1, member B15 7 7 7 q33 128971267 129002011 + 133900773 133914841 + 134233849 134264592 + 6480464 20834067;12477932;12690205;20877624;21276782;22277967 441282 C9JRZ8 AACC02000025;ABBA01001110;AC078847;AMYH01017954;BC072676;BX335355;CH236950;CH471070;NM_001080538 C9JRZ8;EAL24068;EAW83819;NP_001074007 Hs.729418 AKR1B10L OTTHUMP00000207847;aldo-keto reductase family 1 member B15;aldo-keto reductase family 1, member B10-like;aldo-keto reductase family 1, member B15;putative aldo-keto reductase family 1 member B15 protein-coding ENSG00000227471 37281 VALIDATED 7175943 AKR1C5P aldo-keto reductase family 1, member C5, pseudogene 10 5164273 5177418 - 100996684 ABBA01035202;ABBA01035203;AL391427;AMYH01001995 pseudo 44679 MODEL 732178 AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009] 7 7 q35 133777647 133794428 - 134127107 134143888 - 1626081;1626080;1626089;1626092;734542;1599728;1626082;1626083;1626084;1626087;1626088;1626079;1300048;1580863;6480464;6907045 16127462;17003340;16900242;16567803;9215310;16936110;12505670;17444799;17409277;17030682;16979157;17211565 21182935;8645003;2112546;17353931;8435445;19422879;19420105;18716049;18495158;18451330;18434430;18385795;17968325;17851230;17563730;17418233;17270157;17139089;17018629;16936152;16911628;16701918;16620264;16545977;16176189;16174723;16021519;15973199;15745835;15637423;15569136;15504980;15489334;15284221;15284219;15277434;15270790;15251463;15231748;15181092;15162486;14996095;14694018;14694017;14662023;14582038;12690205;12660865;12604221;12486717;12477932;12446366;11958479;11874426;11842041;11796181;11499839;11449315;11444797;11306081;11182213;11095596;10510318;10075698;9565553;9405046;9195951;8877273;8615700;8405190;8347133;8343525;8281941;8268209;8245005;8234324;7789640;6417042;2510130;2504709;2498333;2492527;2111143;1901857;1901827;1621098;1447221;21294693;15862967;16928730;19273550;19850041;20093363;20150532;20353610;20424224;18029348;21067489;21067572;20354121;15583024;19760097;19821053;20943776;19913121;20628086;19847669;21084309;21306562;22658411;22939629;21420193;22844269;21329682;21329684;23146748;21963094;22561432;23000965;23106098;21409599;21637955;21853274;22505724;20639865;21139048;21890473;21906983;21987572;22360420;22649481;23029549 231 E9PCX2;E9PEF9;P15121 AACC02000025;AB209796;ABBA01001109;AC078847;AF032455;AF328729;AK311339;AK313439;AL833410;AMYH01017953;BC000260;BC005387;BC010391;BT019859;CH236950;CH471070;CR450351;CR542203;HH961838;J04795;J05017;J05474;M34720;M34721;M59783;NM_001628;U72619;X15414 AAA35560;AAA35561;AAA51712;AAA51713;AAA51714;AAA51715;AAB61992;AAB88851;AAH00260;AAH05387;AAH10391;AAN09721;AAV38662;ABM81684;ABM83472;ABM84847;ABM86683;BAD93033;BAG36230;CAA33460;CAG29347;CAG47000;CBX51392;EAL24070;EAW83814;EAW83815;NP_001619;P15121 Hs.521212 2107823;2155654;2166727;5014051;5015619;5022651;5024092;5037552;5109281;5115477 AKR1B1_8199;ALDR1;D11S2921;D11S3114;D1S1425;D8S2278;D8S2279;GDB:4585363;J05017;WI-18828 ADR;ALDR1;ALR2;AR;MGC1804 Lii5-2 CTCL tumor antigen;OTTHUMP00000207727;OTTHUMP00000207728;aldehyde reductase 1;aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene);aldo-keto reductase family 1 member B1;aldose reductase;low Km aldose reductase APPROVED protein-coding ENSG00000085662 381 00071 103880 REVIEWED 7176848 AKR1C6P aldo-keto reductase family 1, member C6, pseudogene 10 p15.1 4913859 4958465 - 6480464 10672042;16344560;16712791 389932 AB037902;AB037903;AB037905;ABBA01035203;AC091817;AMYH01001994;CB111913;CS300815;DA643129;NR_026743 BAA92887;BAA92888;BAA92889;BAA92890;CAK32479 Hs.631812 1753721 SHGC-107770 TAKR pseudo 44680 VALIDATED 7176336 AKR1C7P aldo-keto reductase family 1, member C7, pseudogene 10 p15.1 5317169 5327888 - 648947 ABBA01035199;AL355303;AMYH01002000;NG_023403 1335493;1648129 D10S1713;D22S667 pseudo 44681 INFERRED 1317959 AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008] 7 7 q33 133862939 133876700 + 134212344 134226166 + 1580863;2311149;2311151;2311150;6480464;6903952;6903957;6907045 15563966;12706323;15318096;20709016;16970545 19028477;18788756;18396902;18358633;18325492;18087047;17905306;17597105;17425679;17300864;17209433;16204895;16127462;15936242;15928807;15745835;15489334;12882871;12732097;12477932;12365083;11703436;9765596;9537432;8889548;19236911;9565553;18056116;19563777;19464995;21044950;22222635;19913121;20628086;19643728;20007578;20036025;21317765;20586184;20705797;22681639;21277289;21329684;21585341;21645211;21672310;23146748;20943077;22014576;22329800;22498646;23438482 57016 O60218 AACC02000025;ABBA01001110;AC078847;AF044961;AF052577;AF524864;AMYH01017954;BC008837;BM975664;BT006794;CH236950;CH471070;CR541801;NM_020299;U37100 AAC15671;AAC17469;AAC36465;AAH08837;AAO13380;AAP35440;ABM81604;ABW03272;CAG46600;EAL24069;EAW83816;NP_064695;O60218 Hs.116724 5014023 D13S1553 AKR1B11;AKR1B12;ALDRLn;ARL-1;ARL1;HIS;HSI;MGC14103 ARP;OTTHUMP00000207788;SI reductase;aldo-keto reductase family 1 member B10;aldo-keto reductase family 1, member B11 (aldose reductase-like);aldose reductase-like 1;aldose reductase-like peptide;aldose reductase-related protein;hARP;small intestine reductase APPROVED protein-coding ENSG00000198074 382 05271 604707 REVIEWED 1345885 AKR1D1P1 aldo-keto reductase family 1, member D1 pseudogene 1 1 1 1 q24 140598070 140614609 + 165755400 165756447 + 167488787 167505324 + 11342103;10343119 80701 ABBA01047243;AF283650;AL031733;AMYH01001484;NG_002683 2120828 WI-15523 AKR1D1P;SRD5BP1 steroid-5-beta-reductase, beta polypeptide pseudogene 1 APPROVED pseudo 11288 VALIDATED 1347108 AKR1C4 aldo-keto reductase family 1, member C4 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 p15.1 5228798 5250912 + 5238798 5260910 + 1580863;6480464;6907045 11158055;7650035;8172617;2187532;19013211;18676680;17207797;16344854;15987428;15489334;15164054;12544512;12477932;12220531;11284743;10672042;10634139;8274401;7789999;7626489;1530633;16385451;19170196;19625176;19692168;20201926;20214802;21521174;22356824;21570127;19487289 1109 AAB47003;P17516 AB031085;AB032163;AB045829;ABBA01035201;AK314988;AL355303;AMYH01001995;BC020744;CH471072;D26125;D89962;HH961842;M33375;NG_031872;NM_001818;S68287 AAA35658;AAB47003;AAD14010;AAH20744;ABM82350;ABM85524;BAA05122;BAA92885;BAA92893;BAA99542;BAB43901;CBX51394;EAW86450;NP_001809;P17516 Hs.567245 1775274;2154306;5097053;5113286 G62081;RH44128;STS-S68287;STS-T62885 3-alpha-HSD;C11;CDR;CHDR;DD-4;DD4;HAKRA;MGC22581 3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4;3-alpha-HSD1;3-alpha-hydroxysteroid dehydrogenase type I;DD-4;OTTHUMP00000018997;aldo-keto reductase family 1 member C4;chlordecone reductase;chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4;dihydrodiol dehydrogenase 4;dihydrodiol dehydrogenase isozyme DD4;type I 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding ENSG00000198610 387 07040 600451;614279 REVIEWED 1315695 AKR1C1 aldo-keto reductase family 1, member C1 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008] 10 10 p15-p14 4995454 5010158 + 5005454 5020158 + 1580863;1626148;6480464;6907045 15494612 16361083;16338060;15492289;15489334;15212687;15164054;13678667;12899831;12733716;12579257;12477932;11956619;11514561;11013348;10672042;10510318;8573067;8274401;8172617;8132567;8011662;7626489;7515059;8486699;7789999;16079077;19487289;19423521;19218247;18984031;18654764;17945194;17697149;17618725;17149600;16543247;16712791;20689807;16385451;19320734;19696165;19846565;20201926;20673851;20727920;21217827;21232532;21521174;19738201;23165153;23183084;18624398;19442656;21900206;22064385;22278827;22566634 1645 A6NHU4;H0Y804;Q04828 AB031083;AB032150;ABBA01035203;AC091817;AK310658;AL713867;AMYH01001994;BC015490;BC020216;BC040210;BM923712;BT007197;CB119749;D26124;M86609;NM_001353;S68290;U05684;U05861 AAA16227;AAA18115;AAB02880;AAD14012;AAH15490;AAH20216;AAH40210;AAP35861;ABM82410;ABM84849;BAA05121;BAA92883;BAA92886;NP_001344;Q04828 Hs.460260 1646803;1683649;1684538;1781868;2157929;5125451 RH11162;RH92273;SHGC-100143;SHGC-12403;STS-R98791;STS-U05861 2-ALPHA-HSD;20-ALPHA-HSD;C9;DD1;DD1/DD2;DDH;DDH1;H-37;HAKRC;HBAB;MBAB;MGC8954 20 alpha-hydroxysteroid dehydrogenase;20-alpha-hydroxysteroid dehydrogenase;DD1/DD2;HBAB;OTTHUMP00000018992;OTTHUMP00000018993;aldo-keto reductase C;aldo-keto reductase family 1 member C1;chlordecone reductase homolog HAKRC;dihydrodiol dehydrogenase 1;dihydrodiol dehydrogenase 1/2;dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase;dihydrodiol dehydrogenase isoform DD1;hepatic dihydrodiol dehydrogenase;high-affinity hepatic bile acid-binding protein;indanol dehydrogenase;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II 3-alpha-hydroxysteroid dehydrogenase APPROVED protein-coding 384 07194 600449 REVIEWED 1316753 AKR1CL1 aldo-keto reductase family 1, member C-like 1 10 10 10 p15.1 5136630 5167354 - 5186655 5217150 - 5196655 5227150 - 6480464 15164054;12477932 340811 C9J5T8;H7C0B9;H7C4R4;Q5T2L2 ABBA01035201;ABBA01035202;AK131335;AL355303;AMYH01001995;BC101204;BC101205;CH471072;NR_027916 AAI01205;AAI01206;BAD18494;EAW86451;Q5T2L2 Hs.282513 1752695 SHGC-106506 FLJ16347 pseudo 23469 16480 VALIDATED 1352888 AKR1C3 aldo-keto reductase family 1, member C3 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 p15-p14 5126568 5139878 + 5090958 5149878 + 1580863;6480464;6907045 9792917;11256614;19487289;19423521;19336506;19336370;19162045;18996480;18984855;18692800;18676680;18641923;18632753;18574251;18552976;18339682;18306354;17940109;17697149;17583494;17507624;17220347;17166832;17149600;17071532;16983398;16601286;16480815;16475787;16381901;16338060;16337083;16302261;16263811;16189514;16169070;15814298;15781210;15582534;15489336;15489334;15284179;15212687;15164054;15087468;14997212;14996743;14979715;14671194;13678667;12477932;11165022;11076863;10998348;10672042;10622721;10557352;10393440;9927279;9862446;9415401;8718859;8274401;7789999;7788527;7650035;7626489;19942269;19170196;19273550;19320734;19460435;19574343;19625176;19692168;19846565;20036328;20086173;20126582;20145130;20201926;20379614;20453000;20634197;20689807;20661409;20734064;21039282;21151387;21851338;21444150;21232532;17108031;21521174;23165153;23183084;23024260;21365123;18508192;19007764;19442656;8889549;21963094;21323680;16157291;21886157;22170488;22505408;23196782;22670171 8644 B4DKT3;B4DL37;Q9UKL9 AB018580;AB028065;AB032157;ABBA01035203;AF149416;AK290365;AK296701;AK296829;AK310940;AK315411;AL391427;AMYH01001995;AV761799;BC001479;BC019230;BG547635;BT007286;CH471072;D17793;DQ269985;H79159;L43839;NM_001253908;NM_001253909;NM_003739;S68288 AAB41916;AAD14011;AAF07272;AAH01479;AAH19230;AAP35950;ABB76132;ABM81605;ABM84786;ACT64584;ACT64585;BAA04619;BAA88488;BAA88489;BAA92892;BAF83054;BAG59295;BAG59399;CAL37801;EAW86452;EAW86453;EAW86454;NP_001240837;NP_001240838;NP_003730;P42330 Hs.78183 1678215;2154796;2157562;2183315;5097053 D10S1443;G62081;RH1568;RH25343;SHGC-31479 DD3;DDX;HA1753;HAKRB;HAKRe;HSD17B5;KIAA0119;PGFS;hluPGFS 3-alpha hydroxysteroid dehydrogenase, type II;3-alpha-HSD type II, brain;OTTHUMP00000018996;aldo-keto reductase family 1 member C3;aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II);chlordecone reductase homolog HAKRb;dihydrodiol dehydrogenase 3;dihydrodiol dehydrogenase X;indanol dehydrogenase;prostaglandin F synthase;testosterone 17-beta-dehydrogenase 5;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type IIb 3-alpha hydroxysteroid dehydrogenase APPROVED protein-coding 386 04911 603966 REVIEWED 4144516 AKR7A2P1 aldo-keto reductase family 7, member A2 pseudogene 1 1 1 1 p12 111694814 111696137 + 113267495 113268818 + 113465972 113467295 + 12879023;19706366 246182 Q8NHP2 ABBA01068436;AJ277796;AL158844;AMYH01000952;NG_015880;NR_002796 CAC81911 Hs.647691 AFARP1 pseudo 24062 VALIDATED 736637 AKR1D1 aldo-keto reductase family 1, member D1 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010] 7 7 q32-q33 137411736 137453590 + 137761178 137803050 + 1580863;6480464;6907045;7240710 7508385;19075558;19013211;18848863;18407998;16123077;12690205;11342103;11329013;10343119;9024384;22437839;19212619;20800085;20522910;16712791;12477932;19175828;20379614;21255593;21185810;23092984 6718 C9J3U1;P51857 AACC02000025;ABBA01001154;ABBA01001155;AC024082;AC083867;AF283651;AF283652;AF283653;AF283654;AF283655;AF283656;AF283657;AF283658;AF283659;AK058142;AK289425;AK298421;AK298428;AMYH01017967;AMYH01017968;BC130625;BC130627;BG210362;CB111926;CH236950;CH471070;FM160741;FM160742;FM160743;NG_023342;NM_001190906;NM_001190907;NM_005989;Z28339 AAG39381;AAI30626;AAI30628;ADR83138;BAB71682;BAF82114;BAG60645;BAG60650;CAA82193;CAQ55951;CAQ55952;CAQ55953;EAL24049;EAW83881;EAW83882;NP_001177835;NP_001177836;NP_005980;P51857 Hs.201667;Hs.740214 2141696;5037552 D8S2279;SHGC-35425 3o5bred;CBAS2;SRD5B1 3-oxo-5-beta-steroid 4-dehydrogenase;OTTHUMP00000208643;OTTHUMP00000208644;OTTHUMP00000208645;aldo-keto reductase family 1 member D1;delta 4-3-ketosteroid-5-beta-reductase;delta(4)-3-ketosteroid 5-beta-reductase;delta(4)-3-oxosteroid 5-beta-reductase;steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) APPROVED protein-coding ENSG00000122787 388 07263 235555;604741 REVIEWED 1353901 AKR1C2 aldo-keto reductase family 1, member C2 This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 p15-p14 5021965 5050207 - 5029967 5060225 - 1580863;1626148;6480464;6907045 15494612 8573067;19487289;19258517;18984855;18654764;18396902;18251165;17432832;17203165;16478829;16411748;16216911;15492289;15489334;15383625;15212687;15188492;14702039;14671194;13678667;12810547;12477932;12416991;11854486;11514561;11513593;10672042;9716498;8920937;8486699;8274401;8011662;7959017;7789999;2187532;19320734;19754879;19846565;20056642;20689807;20840669;20734064;21280124;21217827;21232532;21521174;16344560;8889548;18508192;22064385;22275760;22534668 1646 B4DK69;P52895 AB021654;AB031084;AB032153;AB209017;ABBA01153848;AK091194;AK290304;AK296419;AK296686;AK308385;AL391427;AL713867;AMYH01001995;BC007024;BC063574;BT006653;CA450425;DA451165;DA458030;L32592;M33376;NG_031852;NM_001135241;NM_001354;NM_205845;S68330;U05598 AAA20937;AAB38486;AAD14013;AAH07024;AAH63574;AAP35299;ABM81606;ABM84788;BAA36169;BAA92884;BAA92891;BAD92254;BAF82993;BAG59081;BAG59281;NP_001128713;NP_001345;NP_995317;P52895 Hs.460260;Hs.567256;Hs.734597 1683649;1684538;1714855;1781868;2157929;5125451 RH11162;RH120422;RH92273;SHGC-100143;SHGC-12403;STS-U05861 AKR1C-pseudo;BABP;DD;DD2;DDH2;FLJ53800;HAKRD;HBAB;MCDR2;SRXY8 3-alpha-HSD3;DD-2;DD/BABP;OTTHUMP00000018995;aldo-keto reductase family 1 member C2;chlordecone reductase homolog HAKRD;dihydrodiol dehydrogenase 2;dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III;dihydrodiol dehydrogenase/bile acid-binding protein;pseudo-chlordecone reductase;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase;type II dihydrodiol dehydrogenase;type III 3-alpha-hydroxysteroid dehydrogenase 2315438 INSUL41_H APPROVED protein-coding ENSG00000151632 385 11857 600450;614279 REVIEWED 1320023 AKR1E2 aldo-keto reductase family 1, member E2 The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 p15.1 4811323 4833177 + 4858402 4880254 + 4868369 4890254 + 1580863;6480464 16344560;15118078;12604216;12477932;8889548;20662065;17207965;16385451;19706366 83592 E9PK93;E9PN98;G3V1C1;H0YCI2;H0YDE8;Q96JD6 AB040820;AB040821;AB040822;AB055603;ABBA01035203;AC091817;AF263242;AK074211;AK302155;AMYH01001994;BC002862;BC023972;BI756016;BM724648;BU741321;CH471072;DA006578;NM_001040177;NM_001271021;NM_001271025;NR_073125;NR_073126;NR_073127 AAH02862;AAK58523;ADQ32301;BAC54565;BAC54566;BAC54567;BAC54568;BAH13638;EAW86461;EAW86462;EAW86463;EAW86464;EAW86465;EAW86466;NP_001035267;NP_001257950;NP_001257954;Q96JD6 Hs.657944 2107825 AKR1CL2_8107 AKR1CL2;AKRDC1;LoopADR;MGC10612;hTSP;htAKR 1,5-anhydro-D-fructose reductase;AF reductase;OTTHUMP00000018989;OTTHUMP00000018990;OTTHUMP00000018991;OTTHUMP00000229818;OTTHUMP00000229819;OTTHUMP00000237878;aldo-keto reductase family 1 member C-like protein 2;aldo-keto reductase family 1, member C-like 2;aldo-keto reductase loopADR;aldo-keto reductase related protein;hTSP;testis-specific protein APPROVED protein-coding ENSG00000165568 23437 07472 REVIEWED 1605840 AKR7L aldo-keto reductase family 7-like This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 1 1 1 p36.13 17919460 17927552 - 19465063 19473022 - 19592476 19600568 - 16710414;12879023;12604248;12477932;20171287;15146197;21906983 246181 Q8NHP1 ABBA01059756;AJ278012;AL035413;AMYH01000314;AMYH01000315;AMYH01000316;BC035351;BX281656;CH471134;CN359627;NR_040288;NR_040289 AAH35351;CAC79668;EAW94876;EAW94877;Q8NHP1 Hs.662342 2185425;5017433 SHGC-74333;STS-T76997 AFAR3;AFB1-AR3;AKR7A4 AFB1 aldehyde reductase 3;AFB1-AR 3;OTTHUMP00000211099;OTTHUMP00000211100;OTTHUMP00000211101;aflatoxin B1 aldehyde reductase 3;aflatoxin B1 aldehyde reductase member 4;aldoketoreductase 7-like APPROVED pseudo ENSG00000211454 24056 12240 608478 REVIEWED 6481089 AKT3-IT1 AKT3 intronic transcript 1 (non-protein coding) 100874263 AL592151 miscrna 41304 733693 AKR7A3 aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004] 1 1 1 p36.13 17936048 17942271 - 19481644 19487867 - 19609057 19615280 - 1580863;6480464 10383892;16710414;16189514;15489334;12879023;12477932;20453000;16341674;21044950 22977 O95154 AA844782;ABBA01059756;AF040639;AJ271799;AL035413;AMYH01000316;BC025709;BC031562;BC042420;BG747063;BM855386;BM920315;CH471134;NM_012067 AAD02195;AAH25709;AAH31562;AAH42420;ABW03342;ABW03686;ACE86642;ACE87324;CAC81076;EAW94878;EAW94879;NP_036199;O95154 Hs.6980 AFAR2 AFB1 aldehyde reductase 2;AFB1-AR 2;OTTHUMP00000002623;aflatoxin B1 aldehyde reductase 2;aflatoxin B1 aldehyde reductase member 3;aflatoxin b1 aldehyde reductase APPROVED protein-coding 390 07089 608477 VALIDATED 1323832 AKT1S1 AKT1 substrate 1 (proline-rich) AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 47241806 47250153 - 55064108 55072456 - 50372296 50380644 - 737633;2308795;6480464;6484113 12477932;19339977 18372248;18215133;17604271;17510057;17386266;17277771;17081983;16344560;16174443;15489334;15324660;15302935;21886838;22090422;21981924;14973226;14702039;12524439;8125298;16169070;22863883;21900206;21914810;21910584;15161933;22241085;21906675;22354785;19446321;23444366;20169205 84335 H9KV91;M0R2V8;Q96B36 ABBA01032908;AC118341;AK055511;AK092610;AK123687;AK226004;AK316603;AMYH01009919;BC000031;BC007416;BC015562;BC016043;BC022241;BC051844;CH471177;DA005259;DA476468;DA542314;DA848626;NM_001098632;NM_001098633;NM_001278159;NM_001278160;NM_032375 AAH00031;AAH07416;AAH15562;AAH16043;AAH51844;BAB70937;BAG38190;BAG52583;EAW52568;EAW52569;EAW52570;EAW52571;NP_001092102;NP_001092103;NP_001265088;NP_001265089;NP_115751;Q96B36 Hs.515542;Hs.610819 2168315 RH36488 Lobe;MGC2865;PRAS40 40 kDa proline-rich AKT substrate;OTTHUMP00000196756;OTTHUMP00000196757;OTTHUMP00000196758;OTTHUMP00000196759;OTTHUMP00000196760;proline-rich AKT1 substrate 1;proline-rich Akt substrate, 40 kDa APPROVED protein-coding ENSG00000204673 28426 12441 610221 VALIDATED 732683 AKR7A2 aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. [provided by RefSeq, Oct 2011] 1 1 p36.13 19503046 19511227 - 19629202 19638640 - 1580863;6480464 9576847;19077459;18752886;17591773;16710414;16429158;15489334;12879023;12477932;12071861;9823300;8125298;16189514;15967462;20877624;21044367;8889549;21139048;21890473;21906983 8574 H3BLU7;H7C4Q7;H7C5H7;O43488 AA037839;ABBA01059756;AF026947;AK225267;AK303131;AK310609;AL035413;AMYH01000316;BC004111;BC007352;BC010852;BC011586;BC012171;BC013996;BG385885;BK000395;BM551906;BT007347;BU944847;CH471134;NM_003689;Y16675 AAC52104;AAH04111;AAH07352;AAH10852;AAH11586;AAH12171;AAH13996;AAP36011;ABM81929;ABM85108;BAG64236;CAA76347;DAA00088;EAW94881;NP_003680;O43488 Hs.571886 1660091;1739385;2118775;2185425 D1S2409;D1S316E;SHGC-74333;STS-AA037839 AFAR;AFAR1;AFB1-AR1;AKR7 AFB1 aldehyde reductase 1;AFB1-AR 1;OTTHUMP00000002622;OTTHUMP00000215517;OTTHUMP00000215519;SSA reductase;aflatoxin B1 aldehyde reductase member 2;aflatoxin beta1 aldehyde reductase;aldoketoreductase 7;succinic semialdehyde reductase APPROVED protein-coding 389 04567 603418 REVIEWED 735623 AKT3 v-akt murine thymoma viral oncogene homolog 3 The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 q44 241718158 242073176 - 243651535 244006886 - 1580863;2313763;2290458;6480464;6484113;6907045 18955974;17641274 12176997;10092583;18813315;18451171;17895832;17668379;17178867;16381901;15987444;15698844;15579468;15543611;15489336;15466193;14702039;14637150;12692267;12663464;12477932;12167664;12162751;11994280;11707444;11489829;21507933;11322783;11230166;11156964;11076863;10773662;10491192;10419456;10208883;9512493;9394803;9305920;16841089;16524887;10869418;17157319;15689238;11208609;15616007;11466625;11387345;19913121;20398329;20628086;19261608;19435822;19626040;19713527;20018949;20031603;20056178;20167810;20186503;20354165;20647317;20102399;18029348;21048031;8619474;9110174;20980808;21191416;21441570;16540465;18524868;21487925;20059950;21777670;21821713;19953087;21139048;22107784;21351097;22262409;22234583;21590431;22500628;22729223;22729224;22729570;15678105;21890473;18160256;18300076;18826950;20661303;20818790;21029719;21423810;21483469;21606541;21697490;21763505;21765914;22904195 10000 F8VS91;Q9Y243 ABBA01047209;ABBA01047210;ABBA01047211;ABBA01047212;ABBA01047213;ABBA01047214;ABBA01047215;AC096539;AF085234;AF124141;AF135794;AJ245709;AK055109;AK308052;AL117525;AL591721;AL592151;AL662889;AMYH01001884;AMYH01001885;AMYH01001886;AMYH01001887;AMYH01001888;AMYH01001889;AMYH01001890;AW960221;AY005799;BC019085;BC020479;BC121154;BG702262;CH471148;NG_029764;NM_001206729;NM_005465;NM_181690;U79271 AAD24196;AAD29089;AAF91073;AAH20479;AAI21155;AAL40392;CAB53537;CAB55977;CAL37669;CAL37727;EAW77093;EAW77094;NP_001193658;NP_005456;NP_859029;Q9Y243 Hs.498292 1339164;1655940;1659998;1692362;1718447;1724053;1735658;1751487;1757677;1765903;1781576;1795338;1848213;1851672;2110909;2119944;2125377;2144329;2145389;2145980;2154548;2163728;2174486;2176214 AKT3_697;AL009857;AL034042;D1S1902E;D1S1904E;D1S2811;D1S326E;G27428;RH119038;RH122424;RH12417;RH64659;RH70333;SHGC-105310;SHGC-146222;SHGC-148050;SHGC-149315;SHGC-30478;SHGC-60158;SHGC-76607;SHGC-76615;SHGC-76617;SHGC-76619;SHGC-76620 DKFZp434N0250;MPPH;PKB-GAMMA;PKBG;PRKBG;RAC-PK-gamma;RAC-gamma;STK-2 OTTHUMP00000037911;OTTHUMP00000037912;OTTHUMP00000241402;PKB gamma;RAC-gamma serine/threonine protein kinase;RAC-gamma serine/threonine-protein kinase;protein kinase Akt-3;protein kinase B gamma;serine threonine protein kinase, Akt-3;thymoma viral proto-oncogene 3 APPROVED protein-coding ENSG00000117020 393 06441 603387;611223 REVIEWED 732407 AKT2 v-akt murine thymoma viral oncogene homolog 2 This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008] 19 19 q13.1-q13.2 45428064 45483105 - 40736224 40791302 - 1580863;734545;1601155;734958;632179;2313347;2311130;2313406;2313763;2315599;2313297;2313299;2313320;2313405;2313409;2313410;2315600;2315603;2302395;2302397;2313350;2313316;2313408;2306432;2313394;2307342;2290458;2290476;5490965;6480464;6484113;6907045;7240710;7248544;7248543 11387480;17327441;12782654;12089343;16418318;19289493;17923673;18955974;19491266;19330838;19309364;18508911;18204829;12663464;12145152;17210696;16721043;17629673;18570632;12902546;19084003;15166380;11311245;11756242;18972094;17641274;16847462;19506583;19470471;21979934 21507933;9512493;9394803;9374542;8622988;3037531;1801921;16841089;16524887;10869418;17157319;15689238;11208609;15616007;16221682;15678105;9528769;17276404;17012749;16982699;16402276;16365168;15987444;15890450;15557754;15531580;15489334;15144186;15111130;15102693;15070827;15010337;14973226;14735903;14702039;14699494;14654898;14645242;14637151;14612499;14504284;14500673;12808085;12791994;12733712;12697749;12545160;12524439;12517798;12517337;12482965;12480711;12477932;12434148;12181350;12176337;12167664;12149249;12114503;12048203;11994280;11988487;11948187;11903042;11781143;11707444;11546794;11507039;11500317;11445557;11432835;11313479;11278835;11156964;11139588;10983986;10491192;9736715;10490823;1409633;16814735;15314020;19197940;19164214;19079138;19075230;19074768;19064572;18996102;18842333;18768676;18660489;18353613;18316591;18281467;18048359;17914025;17908691;17895832;17825284;17804734;17576055;17482291;17372934;17332325;22480544;20102399;12176997;17030088;17535800;17577629;19110052;19261608;19435822;19453261;19713527;19797172;19825827;19843246;19933843;20018949;20056178;20056908;20059950;20109457;20116920;20133737;20167810;20186503;20354455;20447721;20409325;20687898;19913121;20398329;20602615;20628086;20514445;20691427;21048031;21050850;20688159;21179235;19771908;21182834;22748472;21832049;23092922;22556379;15146197;21432781;8889548;21297943;22778840;22809628;16540465;20848774;21518566;21636708;21680733;21722267;22031698;21979951;21092549;22107784;17962807;23018889;21890473;21906983;21618512;21590431;22261254;21932427;23305873;23250987;21988832;22939624;23321478;17349711;18187620;18300076;18826950;19479051;19875456;20012528;20019835;20041213;20661303;20818790;20856200;21029719;21423810;21483469;21606541;21697490;21763505;21765914;22904195;22952844;22158034 208 A8MX96;B4DG79;C9J258;C9JC83;C9JHS6;C9JIF6;C9JIJ1;E7EVP8;F8W8B1;J3KRI8;J3KSY8;J3KT31;J3KTC6;J3KTP4;J3QKW1;J3QL45;J3QLS6;J3QQM6;M0QZK3;M0QZW8;M0R0P9;M0R275;M0R283;P31751;Q0VAN0 ABBA01040746;ABBA01040747;ABBA01040748;AC118344;AK054771;AK055779;AK122839;AK294453;AK304209;AK308006;AK308906;AK314619;AMYH01009799;AMYH01009800;AY708392;BC022779;BC032709;BC040028;BC063421;BC120994;BC120995;BM675176;BQ219902;CH471126;CN351354;M77198;M95936;NG_012038;NM_001243027;NM_001243028;NM_001626 AAA36585;AAA58364;AAH22779;AAH32709;AAH63421;AAI20995;AAI20996;AAT97984;BAG37185;BAG51573;BAG57690;BAH14135;EAW56941;EAW56942;EAW56943;NP_001229956;NP_001229957;NP_001617;P31751 Hs.631535 1767805;2125795;5015861;5037552;7185938 D10S16;D8S2279;RH11487;SGC30851 HIHGHH;PKBB;PKBBETA;PRKBB;RAC-BETA Murine thymoma viral (v-akt) homolog-2;OTTHUMP00000174417;PKB beta;RAC-PK-beta;RAC-beta serine/threonine-protein kinase;murine thymoma viral (v-akt) oncogene homolog 2;protein kinase Akt-2;protein kinase B beta;rac protein kinase beta APPROVED protein-coding ENSG00000105221 392 01262 125853;164731;240900 REVIEWED 1322487 AKTIP AKT interacting protein The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 16 16 16 q12.2 38040003 38051981 - 52082693 52094671 - 53525192 53537170 - 6480464 17353931;19270026;18799622;16189514;16169070;15489334;14749367;14702039;12477932;9501314;9383278;8626685;8125298;20635389;17207965;19549727;20132317;20945372;21424602;18029348 64400 H3BM79;H3BNB8;H3BRT7;H3BRV2;H3BSX7;H3BVH0;Q9H8T0 ABBA01066495;AC007342;AK023320;AK098222;AK222743;AK303503;AL133106;AMYH01007675;BC001134;BC095401;BG568989;BI545474;CH471092;CR457308;NM_001012398;NM_022476 AAH01134;AAH95401;ADQ32518;BAB14524;BAD96463;BAG64536;CAG33589;CAH56392;EAW82803;EAW82804;EAW82805;EAW82806;EAW82807;EAW82808;EAW82809;NP_001012398;NP_071921;Q9H8T0 Hs.380897 1677222;1684522;1796666;2167151;2173690;5015961;5020948;5022322;5037552;5109281 D11S2560;D15S1477;D16S2536E;D1S1425;D8S2279;G35510;RBL2_1295;RH65767;RH75186;RH94082 FT1;FTS AKT-interacting protein;OTTHUMP00000164256;fused toes homolog;fused toes homolog (mouse);fused toes protein homolog APPROVED protein-coding ENSG00000166971 16710 07467 608483 REVIEWED 736545 ALAD aminolevulinate dehydratase The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. [provided by RefSeq, Jul 2008] 9 9 q33.1 115188413 115203391 - 116148592 116163618 - 1599013;1599014;1599011;1601156;1580863;1578396;4144806;4144168;4144137;4144142;4144146;4144542;4144150;4144152;4144202;4144163;6480464;6907045;7240710 17204241;16597373;2222472;11335187;6721832;17320826;20026167;19647414;19484701;16839620;19043199;18778733;19022878;17720948 3463993;3758678;11032836;19548578;19515364;19440429;19327888;19028776;18936436;18795909;18784554;18676680;18569569;18432999;18282196;18271513;17966070;17823382;17649958;17383846;17366816;17291479;17164378;16757504;16730797;16497859;16487505;16445899;16377642;16344560;16263504;16203232;16140629;15954127;15915653;15587989;15489334;15386154;15381398;15258767;15213514;15164053;15064157;14694653;14527840;12972060;12896855;12878157;12665801;12611663;12477932;12469218;11909869;11860952;11800328;11591653;11459423;11444968;11427399;11413692;10706561;10519994;8188255;7450139;6839527;6378062;3327436;3092810;3036687;2063868;1716854;1678509;1602151;1569184;1156566;19170196;19625176;19686844;19692168;19723536;19766174;19789817;19812033;20021040;20021192;20069172;20123609;20406759;20510440;20798009;21293208;21396434;21439310;21799727;21327641;21139048;21762684;22101007;22863883;22298357;22797925;22851944 210 B7Z3I9;B7ZBK6;B7ZBK7;B7ZBK8;P13716;Q6ZMU0 AA593706;ABBA01042684;ABBA01042685;AK131490;AK290490;AK295945;AK312552;AL137066;AMYH01021669;AU279870;AY319481;BC000977;BU625796;BX494400;CH471090;DA412142;DA805310;M13928;NG_008716;NM_000031;S99468;S99471;X64467 AAA51687;AAC60581;AAC60582;AAH00977;AAP72012;BAD18635;BAF83179;BAG35449;BAH12225;CAA45796;EAW87379;EAW87380;NP_000022;P13716 Hs.1227 1649337;1682461;1741723;1788038;1788040;1788042;1788044;1788046;1788048;2180072;2191293 G67278;G67279;G67280;G67281;G67282;G67283;GDB:182364;MARC_17135-17136:1021046712:3;RH67978;RH71467;STS-X64467 ALADH;MGC5057;PBGS OTTHUMP00000021953;aminolevulinate, delta-, dehydratase;delta-aminolevulinic acid dehydratase;porphobilinogen synthase APPROVED protein-coding ENSG00000148218 395 00504 125270;612740 REVIEWED 736755 ALAS2 aminolevulinate, delta-, synthase 2 The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X p11.21 55052213 55074136 - 55035488 55057497 - 1599037;1599038;1580863;1300048;1578396;4144542;6480464;6907045;7240710 7949148;17082564;16839620 14643893;10727444;16234850;2050125;19187226;19066423;18760763;18569569;18555711;16446107;16121195;15772651;15342556;15166166;12663458;12477932;12393718;12031592;10577279;10029606;22269113;9858242;9642238;8107717;2347585;2263504;1939222;1577484;1570328;8889548;22740690;19731322;546546;20850938;21207956;21252495;21309041;21653323;21800356;18624398;23409301;23223129 212 H0Y6R3;P22557;Q5JZF5 AA778169;ABBA01069569;AF068624;AK290565;AK291589;AK313118;AL020991;AMYH01022432;AY190322;AY532069;AY532070;AY532071;AY532072;AY532073;AY532074;AY532075;AY532076;AY532077;AY532078;AY532079;AY532080;AY532081;AY532082;AY532083;AY532084;AY532085;AY532086;AY532087;AY532088;AY532089;AY532091;AY532092;AY532093;AY532094;AY532095;AY532096;AY532097;AY532098;AY532099;AY532100;AY532101;AY532102;AY532103;AY532104;AY532105;AY532106;AY532107;AY532108;AY532109;BC030230;BM677888;BP233279;BP284609;BQ182291;CH471154;NG_008983;NM_000032;NM_001037967;NM_001037968;X56352;X60364;Z83821 AAC39838;AAH30230;AAO37821;AAT09371;AAT09372;AAT09373;AAT09374;AAT09375;AAT09376;AAT09377;AAT09378;AAT09379;AAT09380;AAT09381;AAT09382;AAT09383;AAT09384;AAT09385;AAT09386;AAT09387;AAT09388;AAT09389;AAT09390;AAT09391;AAT09393;AAT09394;AAT09395;AAT09396;AAT09397;AAT09398;AAT09399;AAT09400;AAT09401;AAT09402;AAT09403;AAT09404;AAT09405;AAT09406;AAT09407;AAT09408;AAT09409;AAT09410;AAT09411;BAF83254;BAF84278;BAG35939;CAA39795;CAA42916;EAW93211;EAW93212;EAW93213;NP_000023;NP_001033056;NP_001033057;P22557 Hs.522666;Hs.555936 1646995;1646997;1686164;1774363;1778167;2121191;2147381;2182615;2220286;5093720 A009V31;AL023933;ALAS2;G32884;GDB:193183;RH16577;RH94266;SGC33540;WI-12678;WI-16860 ALAS-E;ALASE;ANH1;ASB;FLJ93603;XLDPP;XLEPP;XLSA 5-aminolevulinate synthase, erythroid-specific, mitochondrial;5-aminolevulinic acid synthase 2;OTTHUMP00000023388;OTTHUMP00000023389;OTTHUMP00000204081;aminolevulinic acid synthase 2;delta-ALA synthase 2;delta-ALA synthetase;delta-aminolevulinate synthase 2 APPROVED protein-coding ENSG00000158578 397 02356 300751;300752;301300 REVIEWED 68572 ALAS1 aminolevulinate, delta-, synthase 1 This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 3 3 p21.1 52207156 52223383 + 52232099 52248343 + 1580863;1601233;1300048;1578396;4144542;4144178;4144185;4144834;4145274;4144808;6480464;6484113;6907045 16125296;16839620;12627002;16181105;16846079;7547054;6688350 2347585;18719978;17672918;17628775;16730941;15797241;15710391;15547665;15489334;15477213;15123725;12878157;12477932;12433930;11929048;11929042;11566198;8424176;7698013;3671094;2263504;2095458;11267664;19477221;20237496;16751776;19913121;20628086;15028279;20877624;21048031;23024262;21659532;18029348;21900206;21906983;21926972;16234850;22505724 211 H7C4H7;H7C5B0;P13196;Q5JAM2 AB063322;ABBA01024511;AC097637;AI868691;AK293190;AK300993;AK312566;AMYH01013182;AU279391;AY260745;BC011798;BM546974;BU173391;CD014147;CH471055;NM_000688;NM_199166;X56351;Y00451 AAH11798;AAP94018;ADZ15340;BAB93514;BAG35461;BAG56730;BAG62612;CAA39794;CAA68506;EAW65188;EAW65189;EAW65190;NP_000679;NP_954635;P13196 Hs.476308 1649007;1734834;1743149;2140833;2186240;5016844 D2S1587E;GDB:273584;RH69932;RH77906;RH93452;SHGC-31564 ALAS;ALAS3;ALASH;MIG4 5-aminolevulinate synthase, nonspecific, mitochondrial;5-aminolevulinic acid synthase 1;ALAS-H;OTTHUMP00000212619;OTTHUMP00000212620;OTTHUMP00000212621;OTTHUMP00000212622;delta-ALA synthase 1;delta-aminolevulinate synthase 1;migration-inducing protein 4 APPROVED protein-coding ENSG00000023330 396 00505 125290 VALIDATED 732909 AKT1 v-akt murine thymoma viral oncogene homolog 1 The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011] 14 14 q32.32 104306731 104333125 - 105235686 105262080 - 1580863;734544;734543;1358369;1643334;1643330;1643332;1643333;734957;625444;1643331;2311130;2313763;2313556;2315600;2306432;2291891;2290458;5133243;5509064;5509066;5509068;5509080;5509082;5509070;5509077;5509083;5509063;5509067;5509074;5509079;5509095;5509076;5509085;5509093;5509101;5509104;5509088;5509090;5509081;5509092;5509071;5509094;6480464;6484113;6907045;7240710 12237475;10802656;14745448;17611497;17892507;17646270;16341149;11544177;12084817;17681738;19289493;18955974;19052261;17210696;11311245;18190825;17641274;21277552;21741444;21596097;21049487;19124556;18236467;20921115;19440551;18054314;21793738;21351045;19800394;19240976;19622728;18395980;18023354;21430300;20363892;20217242;17825267;16234845;18273716;21590431;20214684;20467748 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207 B0LPE5;B3KVH4;B7Z5R1;G3V2I6;G3V3K5;G3V3X1;G3V4I6;P31749 A62733;A63232;AB451242;AB451367;ABBA01002983;ABBA01002984;ABBA01002985;AF283830;AK094287;AK122894;AK131465;AK299310;AK314256;AL583722;AL590327;AMYH01006063;AMYH01006064;BC000479;BC001737;BC063408;BC084538;BX647722;BX648205;CH471061;CN414251;EU332835;JX512440;M63167;NG_012188;NM_001014431;NM_001014432;NM_005163;X61037 AAA36539;AAH00479;AAH01737;AAH84538;AAL55732;ABY87524;ACE86973;ACE87663;AGC09587;BAG36922;BAG53786;BAG70056;BAG70181;BAH12997;CAA03677;CAA03712;CAA43372;EAW81881;EAW81882;EAW81883;NP_001014431;NP_001014432;NP_005154;P31749 Hs.525622 1668790;1696900;1774972;1792560;1795336;2144067;5022322 AKT1_41;D11S2560;PMC15397P1;RH101916;RH47592;RH69160;STS-AA041305 AKT;CWS6;MGC99656;PKB;PKB-ALPHA;PRKBA;RAC;RAC-ALPHA OTTHUMP00000244411;OTTHUMP00000244432;OTTHUMP00000244433;OTTHUMP00000244434;OTTHUMP00000244435;OTTHUMP00000244438;OTTHUMP00000244439;PKB alpha;RAC-PK-alpha;RAC-alpha serine/threonine-protein kinase;protein kinase B;protein kinase B alpha;proto-oncogene c-Akt;rac protein kinase alpha APPROVED protein-coding ENSG00000142208 391 01261 114480;114500;164730;167000;176920;181500;615109 REVIEWED 733283 ALCAM activated leukocyte cell adhesion molecule This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011] 3 3 q13.1 106568403 106778434 + 105085557 105295757 + 1580863;734960;6480464 631856 12754519;9920831;21430457;7760007;19603023;19337990;19322904;19142865;18810438;18483249;18347173;18279810;18202807;18172759;18171982;18157132;17971418;17624664;16865058;16818773;16818742;16650408;16335952;16204050;16024937;15496415;15169840;15140234;14702039;12843199;12481253;12477932;11306570;10673383;9502422;9436462;8823162;8520490;7543097;20826154;20929568;21858815;22704111;20726988;16799092;19626493;20180536;20208136;20220571;16712791;20364042;20530423;20952758;19913121;20606680;20628086;21126364;21119604;16344560;21683980;21757661;21816001;21816425;21293922;21364949;21440089;22880034;21915031;21139048;21906983;21670959;22130902;20972617;21935604;22304788;22555284;22722789;23169448;21988832;23000965;23169771;23507476;22166264;22745698;22745734;23539446;22482754;23052204;23148625 214 B3KNN9;F5GXJ9;H7C543;Q13740;Q6PEY4;Q6ZS95 AB074167;ABBA01061728;ABBA01061729;ABBA01061730;ABBA01061731;ABBA01061732;AC023602;AC078806;AC133476;AK054632;AK095833;AK127617;AK300362;AK301804;AK316113;AL833702;AMYH01013369;AY644765;BC029639;BC041127;BC057809;BC137096;BC137097;CA430528;CB145726;CH471052;DA318514;DB541501;DQ486139;DQ486140;L38608;NG_029729;NM_001243280;NM_001243281;NM_001243283;NM_001627;Y10183 AAB59499;AAH57809;AAI37097;AAI37098;AAV28819;ABF48405;ABF48406;BAC87059;BAG51401;BAG62102;BAG63255;BAH14484;CAA71256;EAW79755;EAW79756;EAW79757;NP_001230209;NP_001230210;NP_001230212;NP_001618;Q13740 Hs.591293;Hs.740441 1674587;1705434;1721411;1752463;1754021;1795340;2114711;2117471;2126887;2159053;2159835 ALCAM_699;D3S4183;G59557;RH46353;SGC38382;SHGC-106342;SHGC-132061;SHGC-35488;SHGC-83798;STS-W51882;WIAF-1714 CD166;FLJ38514;MEMD;MGC71733 CD166 antigen;OTTHUMP00000214313;OTTHUMP00000214314;OTTHUMP00000214315;activated leucocyte cell adhesion molecule APPROVED protein-coding ENSG00000170017 400 03389 601662 REVIEWED 735404 ALB albumin Albumin is a soluble, monomeric protein which comprises about one-half of the blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume. Albumin is a globular unglycosylated serum protein of molecular weight 65,000. Albumin is synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed before the nascent protein is released from the rough endoplasmic reticulum. The product, proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin. [provided by RefSeq, Jul 2008] 4 4 q13.3 74488870 74505996 + 74269972 74287129 + 1599027;1599028;734959;1599033;1580863;1601159;1601157;1601160;1601158;2306884;2306882;2306885;2306886;2325678;2325680;2325679;2325683;2325675;2325682;2325676;2325677;2325686;6480464;5135032;6483494;6484113;6483512;7240710 8048949;7937781;1690892;16753933;8664482;15102963;6468510;8677191;19414946;19424163;19397971;19246226;18154768;17545000;20431764;908508;20508721;10776430;20358256;19011933;20193666;21441310;22592748;22607558 21228463;20346571;20471030;21539799;16405401;14726550;16169013;16307046;16413734;16413740;10940303;16289007;16413837;9731778;16283771;16099937;16201370;16245148;16394536;16153637;12617161;6457647;7557095;8132774;11159893;14718574;19377253;19318029;19298387;19139584;19011736;18979581;18958405;18791744;18579803;18513410;18474236;18464274;18459107;18386863;18346470;18323672;18287254;18256067;18200583;18200582;18192916;18178096;18068661;18054940;18029235;18028874;17987802;17940721;17603933;17587712;17575979;17499233;17467280;17438360;17347578;17200780;17184834;17109502;17067818;17064838;17054386;17048876;17048273;17002873;16979183;16939204;16916777;16892178;16843720;16721655;16705651;16703327;16608438;16454580;16344560;16337614;16324740;16253963;16213467;16159939;16156788;16037246;15996651;15952740;15942949;15913893;15890566;15837789;15832324;15740590;15716124;15646839;15489334;15353599;15324660;15210122;15149953;15137089;14983239;14759223;14687905;14520007;13677478;12975309;12970360;12969171;12815038;12732844;12665801;12566415;12480711;12477932;12118010;12009306;11931649;11906609;11847277;11810025;11781148;11743713;11743520;11734007;11689002;11680902;11483580;11168369;11158855;11145723;11140838;10811843;10780709;10388840;9618718;9589637;9329347;9183005;8898021;8889549;8513793;8347685;8134387;8064810;8063017;8022807;7902134;7895732;7882997;7852505;7578225;7297678;6933567;6864486;6324579;6292049;6275391;6192711;6173750;6171778;4062880;4027254;3828358;3795040;3759977;3479777;3474609;3353369;3087352;3081519;3009475;2914956;2911589;2901102;2898383;2792379;2762316;2727704;2564675;2460858;2437111;2419329;2404284;2374930;2339130;2247440;2104980;2068071;1946412;1859851;1819460;1630489;1602151;1518850;1390939;1347703;1225573;955075;683332;656055;571335;325004;8312056;7576927;1810199;12007569;10580404;10086322;8605586;9168236;16169070;15502818;15616580;16054887;22630368;22832880;22675238;22905377;21456469;15174051;15604093;16329499;17058928;17460892;19212124;19339807;19375269;19450464;19484197;19505594;19520864;19572666;19588173;19601929;19615354;19615732;19664386;19707690;19711930;19733855;19734142;19785033;19883602;19884191;19955769;19996109;20006594;20018855;20025859;20171595;12601813;20603593;20306030;20211614;20381621;14579113;20215742;20716240;20818804;20705604;20160662;20692819;21193536;21488149;19404566;21190670;20828817;21326965;22209935;22286219;22450170;21832049;22513409;22815976;23285146;21190025;21271345;21439346;21635915;21843484;23592780;23176518;23455922;23215783;21494773;22120732;20018394;21521316;21900206;22079093;20835227;22351593;22642562;23104623;21139048;21890473;21950461;21997768;20473970;22306656;22549788;22878801;22613267;22968245;22982313;23103397;23398456;22437883;18337751;21565611;23360066;22718756;17301560;21357544;22268729;22685563;22797925;22440250;22870899;23531836;23538348 213 B7WNR0;C9JKR2;D6RCE7;D6RHD5;H0YA55;H7C013;Q9P157 A06977;ABBA01022989;ABBA01022990;AC108157;AF190168;AF542069;AK292755;AK298437;AK298461;AK308044;AK314794;AMYH01014300;AY358313;AY544124;AY550967;AY728024;AY960291;BC014308;BC034023;BC034026;BC035969;BC036003;BC039235;BC041789;BJ993972;CH471057;CR749331;CS339763;DA536463;DA642320;DQ986150;EF649953;GM662929;GN367252;HC484161;HQ537426;M12523;N53869;NG_009291;NM_000477;S69192;S70799;V00494;V00495;X51363;X51364;X51365 AAA98797;AAA98798;AAB30282;AAB31177;AAF01333;AAH14308;AAH34023;AAH35969;AAH36003;AAH41789;AAN17825;AAQ89947;AAT11155;AAT52213;AAU21642;AAX63425;ABJ16448;ABM82340;ABM85514;ABS29264;AEE60908;BAF85444;BAG37325;BAG60658;BAG60674;CAA00606;CAA23753;CAA23754;CAA35747;CAA35748;CAA35749;CAH18185;CAL14739;CAV33840;CAY85984;CBL66721;EAX05659;EAX05660;EAX05661;EAX05662;EAX05663;EAX05664;EAX05665;EAX05666;EAX05667;EAX05668;EAX05669;EAX05670;EAX05671;EAX05672;EAX05673;EAX05674;EAX05675;EAX05676;EAX05677;EAX05678;NP_000468;P02768 Hs.418167;Hs.592379 1655096;1675098;1741147;1741149;1741217;1743467;1743469;1743471;1743473;1743475;1743477;1743479;1743481;1743483;1743485;1743487;1743489;1743491;1743493;1791534;1791976;1794962;1795022;1795024;1849168;1856189;1857502 D4S2818;G34388;G34389;GDB:178382;GDB:178383;GDB:178648;GDB:340866;GDB:340869;GDB:340872;GDB:340875;GDB:340878;GDB:340881;GDB:340884;GDB:340887;GDB:340891;GDB:340894;GDB:340897;GDB:340900;GDB:340903;GDB:340906;PMC114008P1;PMC134004P1;PMC86453P1;PMC87818P1;PMC87818P2;RH11066;SHGC-59619 DKFZp779N1935;PRO0883;PRO0903;PRO1341 OTTHUMP00000160370;OTTHUMP00000196832;OTTHUMP00000220435;OTTHUMP00000220436;OTTHUMP00000220438;OTTHUMP00000220439;albumin (32 AA);albumin (AA 34);cell growth inhibiting protein 42;growth-inhibiting protein 20;serum albumin APPROVED protein-coding ENSG00000163631 399 00062 103600;194470 REVIEWED 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 19 19 19 q13.33 46823977 46843666 + 54648325 54665658 + 49956473 49974305 + 1580863;6480464 17353931;16344560;14702039;12477932;9110174;8619474;19184135;19615732;16751776;21963094;23348497;22863883;21139048;21890473;21906983;21987572;22318606;22505724 126133 F5H4B6;F8WBH3;M0QY06;M0QYY1;Q8IZ83 ABBA01032926;ABBA01032927;ABBA01032928;AC010619;AK024182;AK074136;AK297101;AK298587;AK301246;AMYH01009912;AY007096;BC014895;BC035641;BC042142;CH471177;DA629821;DC364604;NG_012747;NM_001145396;NM_153329 AAH14895;AAH35641;AAH42142;BAB84962;BAG59613;BAG60777;BAG62813;EAW52482;EAW52483;EAW52484;NP_001138868;NP_699160;Q8IZ83 Hs.719998 5015961;5016700;5023137;5024035;5037552;5109281;5117897 27268et;D13S116;D15S1477;D1S1425;D8S2279;GDB:631813;RH79802 MGC10204 aldehyde dehydrogenase family 16 member A1 APPROVED protein-coding ENSG00000161618 28114 14394 613358 REVIEWED 1353558 ALDH1A3 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The enzyme encoded by this gene uses retinal as a substrate, either in a free or cellular retinol-binding protein form. [provided by RefSeq, Jul 2008] 15 15 q26.3 99237532 99274354 + 101420009 101456831 + 1580863;6480464;6771354;6771322;6484672;6907045 21138835;15950969;21621639 21280157;11585737;19478994;19343046;15489334;12477932;12040753;9490025;7698756;19703508;20709019;23650391;22131125;21906983;19322201;21963094;23312594 220 H0Y2X5;H0YKF9;H0YLT1;H0YNQ3;P47895 ABBA01020531;ABBA01020532;AC015712;AK302607;AK303441;AK312303;AL110109;AMYH01006972;AMYH01006973;BC009245;BC069274;BX538027;CH471101;DB480234;NG_012254;NM_000693;U07919 AAA79036;AAH69274;ACE86700;ACE87384;BAG35229;BAG63855;BAG64488;CAD97973;EAX02281;EAX02282;EAX02283;NP_000684;P47895 Hs.459538 1783242;1795342;1852432;2122708;2147607 ALDH1A3_289;D15S1345;RH48812;RH66397;SHGC-154796 ALDH1A6;ALDH6;MCOP8;RALDH3 OTTHUMP00000194835;RALDH-3;acetaldehyde dehydrogenase 6;aldehyde dehydrogenase 6;aldehyde dehydrogenase family 1 member A3;retinaldehyde dehydrogenase 3 APPROVED protein-coding ENSG00000184254 409 02713 600463;615113 REVIEWED 736747 ALDH1A1 aldehyde dehydrogenase 1 family, member A1 The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011] 9 9 q21.13 74705407 74757789 - 75515578 75568233 - 1580863;1300048;2325688;6480464;6484672;6771354;6907045 19216797;21621639;21138835 22649953;21371077;1709013;224930;2987944;19478994;19450560;19385968;19343046;19329942;19296407;19129088;19025616;19018242;18854779;18848913;18644979;18496131;18450747;18371393;18343808;18331377;18082256;18029348;17628022;17502835;17286337;17222227;17175089;16878979;16857736;16189514;15597079;15489334;14678778;14506398;12477932;12174908;12081471;9723161;9240474;9166904;8493914;8214422;6723659;6427007;4015823;3676276;3397064;3013004;2776714;2591967;730161;22877687;20516116;20422001;21441790;19447584;19696793;19703508;19706361;19774675;19808966;19874574;20010854;20019840;20142235;20379614;19911270;20596639;20606680;20634891;20585849;20228222;20959469;21045151;21098716;21118965;21282737;20889728;21231983;20959018;22710732;22617249;22591209;23084350;23132408;21336637;21399615;21827011;22101256;22887839;22928012;23295229;23454351;15852347;22005464;21695188;21804471;21708005;21907803;22123295;22260461;22115706;22544210;22012766;22131125;22014057;22080062;21482329;22195027;22608744;22878609;23252868;22098156;22430847;23332924;23112116;22417385;22899292;23236537;21988832;23220285;23438482;22938492;22782852;22930220;23267077 216 P00352;Q5SYQ7;Q5SYQ8;Q5SYQ9 AB209821;ABBA01033867;AF003341;AI074764;AK000118;AK026641;AK293176;AK302168;AL591031;AMYH01021409;AY338497;AY390731;BC001505;BG773210;BT006921;CH471089;DC398835;HC025826;K03000;M26761;M31994;NG_012249;NM_000689;S61235 AAA35518;AAA51692;AAA51695;AAC51652;AAD13925;AAH01505;AAP35567;AAP88039;AAR92229;ABM81595;ABM84776;BAD93058;BAG56719;BAG63535;CBH19844;EAW62543;EAW62544;NP_000680;P00352 Hs.76392 1695836;1797272;1858146;2142530 ALDH1A1__2601;HUM00D1B06;RH12740;SHGC-78774 ALDC;ALDH-E1;ALDH1;ALDH11;MGC2318;PUMB1;RALDH1 ALDH class 1;ALHDII;OTTHUMP00000021482;RALDH 1;acetaldehyde dehydrogenase 1;aldehyde dehydrogenase 1, soluble;aldehyde dehydrogenase family 1 member A1;aldehyde dehydrogenase family 1, member a1;aldehyde dehydrogenase, cytosolic;aldehyde dehydrogenase, liver cytosolic;retinal dehydrogenase 1;retinaldehyde dehydrogenase 1 APPROVED protein-coding ENSG00000165092 402 00001 100640 REVIEWED 6481157 ALDH1L1-AS1 ALDH1L1 antisense RNA 1 3 125822483 125826912 + 100874204 ABBA01016395;AC079848;AMYH01013447;NR_046602 Hs.742339 APPROVED miscrna ENSG00000250218 40244 PREDICTED 1350073 ALDH18A1 aldehyde dehydrogenase 18 family, member A1 This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 q24.3 97355676 97406557 - 97365686 97416567 - 1580863;6480464;6907045 8761662;18478038;18401542;15517380;15489334;15164054;12477932;11092761;10037775;8921385;8125298;21145461;21319273;16385451;18029348;19615732;20379614;20819778;20877624;20946940;20186120;17314511;17000644;22939629;21739576;20360068;21081666;19805454;23383273;18781797;21139048;21890473;21906983;21987572;22354994;22586326;15576338;22505724 5832 Q5T566 ABBA01021834;AK126355;AK225455;AK225465;AK226032;AK295487;AK299557;AK312271;AL356632;AMYH01002968;AW467503;BC106054;BC117240;BC117242;BC143930;BU170321;CD642171;CH471066;NG_012258;NM_001017423;NM_002860;U68758;U76542;X94453 AAD00169;AAD17454;AAI06055;AAI17241;AAI17243;AAI43931;ADR83253;BAG35201;BAH12086;BAH13064;CAA64224;EAW49994;EAW49995;EAW49996;EAW49997;NP_001017423;NP_002851;P54886 Hs.500645 1856285;2109715;5022578;5037552;5494092 D10S2402;D1S1423;D8S2279;PYCS__6971;fc35a07.x1 ARCL3A;GSAS;MGC117316;P5CS;PYCS OTTHUMP00000020159;OTTHUMP00000020160;aldehyde dehydrogenase family 18 member A1;delta-1-pyrroline-5-carboxylate synthase;delta-1-pyrroline-5-carboxylate synthetase;delta1-pyrroline-5-carboxlate synthetase;pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) APPROVED protein-coding ENSG00000059573 9722 00696 138250;219150 REVIEWED 734163 ALDH1A2 aldehyde dehydrogenase 1 family, member A2 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] 15 15 q21.3 56032919 56145198 - 58245622 58358121 - 734550;1580863;734961;734962;1576367;1300048;6480464;6771322;6484672;6771354;6907045 12563036;7426208;12702665;12547725;15950969;21621639;21138835 16166285;16237707;18495959;19478994;19343046;16368932;15489334;14718574;14702039;12477932;11953746;10192400;9819382;8797830;8663198;18029348;19609347;19703508;19886994;20308937;20375987;20379614;20450613;17266347;22930583;21139048;21890473;22505724 8854 E9PF31;H0YKL3;H0YMG7;H0YMT5;Q9UED3;Q9UFY0 AA447978;AB015226;AB015227;AB015228;AB015229;ABBA01038986;ABBA01038987;AC012653;AC025431;AK128709;AK294981;AK303057;AL110274;AL110299;AL137418;AMYH01006678;BC030589;BI459110;BX443600;CH471082;DB458699;DQ322171;NG_012259;NM_001206897;NM_003888;NM_170696;NM_170697 AAH30589;ABC40749;ABM82494;ABM85686;BAA34785;BAA34786;BAA34787;BAA34788;BAG54714;BAG58050;BAG64174;CAB53740;EAW77528;EAW77529;EAW77530;NP_001193826;NP_003879;NP_733797;NP_733798;O94788 Hs.643455 1707188;1718725;1769763;1852810;2217002 ALDH1A2_1803;G17842;RH123050;SHGC-79179;STS-AA036780 MGC26444;RALDH(II);RALDH2;RALDH2-T OTTHUMP00000163462;OTTHUMP00000163463;RALDH 2;aldehyde dehydrogenase family 1 member A2;aldehyde dehydrogenase family 1, subfamily a2;retinal dehydrogenase 2;retinaldehyde-specific dehydrogenase type 2 APPROVED protein-coding ENSG00000128918 15472 04733 603687 REVIEWED 5688412 ALDH1L1-AS2 ALDH1L1 antisense RNA 2 3 q21.3 125898908 125929012 + 14702039;16344560;23378610 100862662 ABBA01016394;ABBA01016395;AC079848;AK097508;AMYH01013447;BC039521;DA256650;DA566603;NR_046383 Hs.633362 FLJ40189 APPROVED miscrna ENSG00000246022 42446 VALIDATED 1606025 ALDH1L1 aldehyde dehydrogenase 1 family, member L1 The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 q21.3 127305098 127382175 - 125822404 125900029 - 6480464;6907045;7242562 22353665 17111379;18848533;19018242;19447584;19935739;21215736;21238436;22491060;21779486;22593801;21987076;22039442;10204077;19343046;19161160;19064578;19048631;18830263;18676680;17891500;17548676;17119116;12805405;12477932;12065246;8125298;7972060;2733692;19913121;20628086;20634891;19170196;19625176;19692168;19851296;19936946;20198315;20453000;20737570;20877624;20729910;21046559;21540484;23378610 10840 B4DGC8;C9IZ36;C9JY00;C9JYZ6;D6RFJ7;F2Z324;F8WC34;O75891;Q53H87;Q8TBP8 AA639766;AB209299;ABBA01016395;AC079848;AF052732;AK124908;AK222535;AK222694;AK294392;AK294530;AK307699;AK308112;AL133015;AMYH01013447;BC027241;BC045645;BI829048;CH471052;CR749807;DC342268;NG_012260;NM_001270364;NM_001270365;NM_012190;NR_072979 AAC35000;AAH27241;ACE86814;ACE86815;ACE87501;ACE87502;ADZ15394;BAC85992;BAD92536;BAD96255;BAD96414;BAG57647;BAG57739;CAB61356;CAH18667;EAW79370;EAW79371;EAW79372;NP_001257293;NP_001257294;NP_036322;O75891 Hs.434435 1696462;1708490;2156088;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;G06984;SHGC-79487;SHGC-79784 10-FTHFDH;10-fTHF;DKFZp781N0997;FDH;FTHFD 10-FTHFDH;10-formyltetrahydrofolate dehydrogenase;OTTHUMP00000155221;OTTHUMP00000214696;OTTHUMP00000214700;OTTHUMP00000222724;aldehyde dehydrogenase family 1 member L1;cytosolic 10-formyltetrahydrofolate dehydrogenase;formyltetrahydrofolate dehydrogenase APPROVED protein-coding ENSG00000144908 3978 02594 600249 REVIEWED 1315525 ALDH1B1 aldehyde dehydrogenase 1 family, member B1 This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008] 9 9 p11.1 38382702 38388658 + 38392661 38398662 + 1580863;6480464;6907045 1306115;19343046;18782342;17628022;17471563;15489334;15164053;12477932;8689400;8244338;8125298;7779080;7774944;2061311;21216231;21145461;20205700;18029348;20700531;20734064;20877624;20955166;16344560;22863883;22939629;22990118;19738201;21988832;23247008;23454351;16196087;17314511;21139048;21890473;22268729 219 B4DLJ0;P30837 ABBA01050381;AI803741;AK225950;AK297020;AK313344;AL135785;AMYH01019366;BC001619;BE889810;BT007418;CH471071;DA599259;DB256700;M63967;NG_012253;NM_000692 AAA96830;AAH01619;AAP36086;ABM81675;ABW03290;BAG36147;BAG59552;EAW58252;NP_000683;P30837 Hs.436219;Hs.743532 1743169;1743173;1743175;1795344;1850838;2140030;2171303;5118576 ALDH1B1_1553;D11S3430;GDB:280628;GDB:280630;GDB:280632;SGC35531;STS-M63967;STS-R93551 ALDH5;ALDHX;MGC2230 ALDH class 2;OTTHUMP00000021399;acetaldehyde dehydrogenase 5;aldehyde dehydrogenase 5;aldehyde dehydrogenase X, mitochondrial;aldehyde dehydrogenase family 1 member B1;mitochondrial aldehyde dehydrogenase X APPROVED protein-coding ENSG00000137124 407 00005 100670 REVIEWED 69220 ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011] 12 12 q24.2 110688729 110732167 + 112204691 112247789 + 734551;1599041;1599042;1331525;1300048;1601161;1601162;1601164;1601163;1580863;2311152;2325694;2325313;2311149;2311150;2311151;6480464;6907045;7240710;7241588;7241590;7241599;7241603;7241598;7241592 10780266;17058263;15126281;15118671;17388993;16408483;11510748;12484509;12452318;15714130;19068087;15563966;15318096;12706323;21166048;20957334;21138988;22022451;23468836;18787169 19286920;17459359;9309300;22231434;1306115;8903321;19637400;19618839;19584771;19469618;19456322;19449376;19403456;19393179;19343046;19339270;19336370;19332462;19302089;19298328;19298323;19262484;19250143;19230487;19185835;19182438;19164089;19124505;19115622;19096130;18996923;18974607;18798003;18787502;18786921;18782342;18776700;18773092;18772068;18763293;18724972;18715275;18676680;18665932;18621017;18616675;18540919;18516948;18510611;18450747;18439068;18429959;18336671;18331377;18322963;18318597;18317873;18302046;18299763;18272654;18258609;18254707;18216179;18215653;18201725;18078815;18056758;18033686;17984618;17963305;17952709;17948892;17885622;17854793;17850643;17785925;17659824;17632320;17631643;17559142;17543846;17517051;17489985;17471563;15654505;15569633;15542751;15519646;15511718;15489334;15377279;15327835;15318112;15318097;15279067;15242332;15220553;15182962;15167446;15123334;15122947;15084894;15008789;14768474;14742656;14693654;14691372;14652286;14636437;14634838;14597338;14568296;14506613;14506399;12940444;12915519;12915514;12884000;12824748;12806963;12798968;12777946;12766630;12759747;12759156;12739102;12718671;12718576;12706324;12705718;12563175;12554615;12545748;12519453;12517056;12505800;12492137;12477932;12419833;12387818;12376487;12351924;12223435;12213289;12211622;12198369;12198368;12189549;12173598;12170102;12168074;12164325;12119207;12089173;12082496;12080432;12033531;12010862;11966948;11925062;11798074;11767261;11748356;11744614;11696658;11692094;11600186;11584144;11520401;11468345;11410744;11410735;11375898;11238183;11210104;11117576;11115843;11051375;10631996;9765594;17384900;17292341;17285601;17207821;17196743;17138329;17134659;17071628;17040107;17036331;17033202;16958672;16847426;16822169;16792555;16788276;16782756;16759795;16758956;16734278;16702384;16685648;16679777;16679343;16639733;16624836;16608143;16600530;16565959;16520888;16499490;16440362;16440063;16404797;16385179;16365683;16351505;16332725;16324524;16309369;16250071;16235983;16187278;16163053;16135443;16127737;16126235;16125912;16108833;16103445;16082583;16078602;16046871;16006997;15991278;15983043;15957670;15957669;15902904;15863807;15842823;15840430;15780035;15734972;15703303;15679538;17454860;8561277;8290656;8125298;7593603;6582480;4065146;4015823;3653404;3610592;3582651;3562250;3017845;2987944;2838413;2562960;16169070;22708399;21133627;19486361;12795606;19064571;19144977;19170196;19251454;19261511;19452585;19506075;19625176;19641380;19655364;19667493;19692168;19698717;19706845;19751749;19769429;19799139;19819294;19826048;19860798;19861527;19874574;19876063;19906643;19911129;19914339;19948975;20005475;20010786;20025435;20042735;20062057;20077761;20093384;20100738;20101753;20180013;20180859;20205700;20364586;20381070;20403997;20417517;20437850;20467232;20477767;20477771;20488846;20518787;20521872;9195888;20562859;20833657;20139978;19913121;20541757;20577142;20590827;20598484;20628086;20632450;20652463;20685249;20806441;20700531;20877124;20877624;21039630;21070510;21832049;22564712;22931071;22988236;21476199;21515512;8889548;21372407;21437268;21252222;21085683;21270382;21157980;22839215;23106910;22960999;21572416;21114754;21536753;21576033;21672255;21321583;20186120;21601984;21861333;22551939;23247008;23295226;23454351;22508505;21145461;22180476;20731752;21958412;21664374;21507992;22102315;22302076;22930414;23111423;22797727;21723677;21848961;21139048;21820149;21906983;22155639;21309949;21355870;21917409;21946912;21971053;22144473;22155604;22171074;22286173;22455355;22287615;22292652;22004425;21988832;23364009;22507973;22870576;22879089;23149980;23238616;22591209;22279680;23041239;23354068;23364394;22703580;22909898 217 F8VSB0;F8W0A9;P05091 ABBA01019906;ABBA01019907;ABBA01019908;ABBA01019909;ABBA01019910;ABBA01019911;AC002996;AC003029;AF164120;AK223373;AK301375;AK314856;AMYH01004752;AY621070;BC002967;BC071839;CB851683;CH471054;CR456991;DC353712;HC250939;HC311128;K03001;M20444;M20456;M26760;M54931;NG_012250;NM_000690;NM_001204889;X05409;Y00109 AAA51693;AAA51694;AAA62825;AAB59500;AAD48447;AAH02967;AAH71839;AAT41621;ADZ15477;BAD97093;BAG62916;CAA28990;CAA68290;CAG33272;CBJ05767;CBJ21219;EAW97973;EAW97974;EAW97975;EAW97976;NP_000681;NP_001191818;P05091 Hs.604551 1691500;1694934;1710046;1741241;1745755;2147702;2217004 119668;ALDH2_2950;D12S1884;G44358;GDB:179565;GDB:636036;SHGC-82299 ALDH-E2;ALDHI;ALDM;MGC1806 ALDH class 2;OTTHUMP00000241661;OTTHUMP00000241662;OTTHUMP00000241663;OTTHUMP00000241665;acetaldehyde dehydrogenase 2;aldehyde dehydrogenase 2;aldehyde dehydrogenase, mitochondrial;liver mitochondrial ALDH;nucleus-encoded mitochondrial aldehyde dehydrogenase 2 APPROVED protein-coding ENSG00000111275 404 00003 100650;610251 REVIEWED 1318187 ALDH3B2 aldehyde dehydrogenase 3 family, member B2 This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. The expression of these transcripts is restricted to the salivary gland among the human tissues examined. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 11 q13 64764391 64781968 - 67186209 67205261 - 67429633 67448685 - 1580863;6480464;6907045 8890755;19343046;15489334;15342556;14702039;12477932;10737800;9161417;7484374;20237496;21906983 222 E9PJV0;E9PKY9;H0YEC0;P48448 ABBA01024026;AK092464;AK299956;AK309277;AMYH01003748;AP003385;BC007685;BG009508;BP313753;BT006810;CH471076;NG_012255;NM_000695;NM_001031615 AAH07685;AAP35456;ABM84628;ABM92158;BAC03897;BAG61783;EAW74665;NP_000686;NP_001026786;P48448 Hs.87539 1694512;1795346;2125148;2148910 ALDH3B2_420;RH121969;RH18048;RH47695 ALDH8 OTTHUMP00000235616;acetaldehyde dehydrogenase 8;aldehyde dehydrogenase 8;aldehyde dehydrogenase family 3 member B2 APPROVED protein-coding ENSG00000132746 411 03559 601917 REVIEWED 733180 ALDH3A1 aldehyde dehydrogenase 3 family, member A1 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] 17 17 p11.2 19581889 19592200 - 19641297 19651746 - 1300048;1580863;2300309;6480464;6907045 3949078 1737758;11256614;19360691;19343046;19058789;19025616;18854779;18621017;18536178;18496131;16344560;15905174;15489334;14745454;14702039;12943535;12706498;12477932;12367788;12081471;10780262;9855707;9514081;9250352;9027499;8889548;8493892;8125298;7774944;7625577;7228061;4073832;2037078;1905102;1306115;19894643;20056567;20237496;20379614;19696793;20102361;21229876;21203538;21251908;22406320;21044950 218 A8MYB8;C9JKT2;C9JMC5;E9PNN6;I3L1H6;I3L3I9;I3L3W9;I3L4E5;P30838;Q6PKA6 ABBA01054596;AC005722;AK091272;AK093755;AK093877;AK225505;AK225513;AK292193;AK314584;AMYH01008238;AMYH01008239;BC004102;BC004370;BC008892;BC021194;BM979497;BT007102;CH471212;CV575863;DA427150;DA445491;M74542;M77477;NG_012251;NM_000691;NM_001135167;NM_001135168;S61044 AAA51696;AAB26658;AAB46377;AAH04102;AAH04370;AAH08892;AAH21194;AAP35766;ABM83914;BAC04239;BAF84882;BAG37160;BAG52758;EAW50908;EAW50909;NP_000682;NP_001128639;NP_001128640;P30838 Hs.531682 2152655;2158146;5037552;5109281 D1S1425;D8S2279;RH11444;WI-9090 ALDH3;ALDHIII;MGC10406 OTTHUMP00000065794;OTTHUMP00000065795;OTTHUMP00000065796;OTTHUMP00000065797;aldehyde dehydrogenase isozyme 3;aldehyde dehydrogenase type III;aldehyde dehydrogenase, dimeric NADP-preferring;stomach aldehyde dehydrogenase APPROVED protein-coding ENSG00000108602 405 00004 100660 REVIEWED 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] 12 12 12 q23.3 105078239 105142624 - 103942332 104002366 - 105413562 105478341 - 1580863;6480464;6907045 20498374;14702039;12477932;21238436;20877624;19933275;20379614;21789175;20186120;18029348;23382691 160428 B4DTU7;H0YHN9;Q3SY69 ABBA01053187;ABBA01053188;ABBA01053189;AC016257;AC090051;AF086109;AK094088;AK095827;AK300373;AMYH01004718;AMYH01004719;BC103934;BC103935;BX537599;CA418450;CR627287;CR749561;HQ292168;NG_012748;NM_001034173;NR_027752 AAI03935;AAI03936;ACE87788;ACT64437;BAC04634;BAG62109;CAH10368;CAH18358;NP_001029345;Q3SY69 Hs.42572 1338335;1682135;1690992;1721227;1746935;2156455;2163433;2187797;5020948;5094334 D1S1151;G35510;G54718;G59457;G64838;G69481;RH68920;RH77954;RH79585;RH92214 DKFZp686A16126;DKFZp686M064;DKFZp686P14145;FLJ36769;FLJ38508;MGC119536;MGC119537;mtFDH 10-formyltetrahydrofolate dehydrogenase ALDH1L2;OTTHUMP00000242225;aldehyde dehydrogenase family 1 member L2;aldehyde dehydrogenase family 1 member L2, mitochondrial;mitochondrial 10-FTHFDH;mitochondrial 10-formyltetrahydrofolate dehydrogenase;probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2 APPROVED protein-coding ENSG00000136010 26777 18742 613584 REVIEWED 737085 ALDH3A2 aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 p11.2 19492656 19521500 + 19552064 19580908 + 1300048;1580863;6480464;6907045;7240710 8528251;19343046;18519826;18035827;17998529;17971613;17902024;17510064;16996289;16794583;15931689;15489334;15241804;15110319;14702039;12477932;11408337;10792573;10577908;9829906;9467812;9254849;9204959;9070922;9027499;7894487;7485163;21145461;19615732;20237496;20883264;20677014;20877624;17342744;21524986;9133646;18781797;20360068;21139048;21684788;21890473;21906983;22678362;21963094;22633490;20305087;22397046;21872273;22797925 224 C9JGJ2;I3L0X1;I3L1M4;I3L2W1;I3L4G6;J3KTD9;J3KTG1;J3QKK9;J3QQV9;J3QRD1;J3QS00;K7EN73;P51648 AB208894;ABBA01054599;AC005722;AC115989;AK000858;AK025677;AK123877;AK292381;AK315096;AMYH01008238;BC002430;BG699030;CH471212;CR457422;CR749559;L47162;NG_007095;NM_000382;NM_001031806;U46689;U75286;U75295;U75296 AAB01003;AAC50965;AAC50966;AAC51121;AAH02430;ABM86806;ABW03828;BAD92131;BAF85070;BAG37560;CAG33703;CAH18356;EAW50898;EAW50899;EAW50900;NP_000373;NP_001026976;P51648 Hs.499886 1644778;1660408;1662966;1689833;1772869 AFMa126yd5;RH64993;RH66582;RH75646;SGC31627 ALDH10;DKFZp686E23276;FALDH;FLJ20851;SLS OTTHUMP00000065799;OTTHUMP00000065800;OTTHUMP00000065801;aldehyde dehydrogenase 10;aldehyde dehydrogenase family 3 member A2;aldehyde dehydrogenase family 3, subfamily a2;fatty aldehyde dehydrogenase;microsomal aldehyde dehydrogenase APPROVED protein-coding ENSG00000072210 403 07188 270200;609523 REVIEWED 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 5 5 5 q14 72480239 72482049 + 76621684 76623499 + 76586009 76587819 + 16004729;9417906 541 ABBA01061980;AC022414;AF002693;AMYH01015427;NG_001082;NG_023364 2140109;2144152;2155264 D5S2464;D5S2596;RH47147 ATQL1 antiquitin-like 1 pseudo 878 INFERRED 1349903 ALDH3B1 aldehyde dehydrogenase 3 family, member B1 The aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular gene spans about 20 kb of genomic DNA and is composed of 9 coding exons. The gene is highly expressed in kidney and lung. The functional significance of this gene as well as the cellular localization of its product are presently unknown. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 11 11 11 q13 65109718 65130415 + 67534366 67553319 + 67776048 67796743 + 1580863;6480464;6907045 7828891;19343046;19159868;17382292;16092759;15489334;14702039;12477932;9490025;9161417;20237496;20729348;20699116;21139048;21890473;21906983;21987572;21963094;23000965;23438482 221 P43353;Q9BUJ8 AB209651;ABBA01024019;ABBA01024020;AC004923;AK092029;AK291505;AMYH01003754;BC002553;BC013584;BC014168;BC019911;BC033099;BM561843;BT009832;CH471076;EF411198;NG_012282;NM_000694;NM_001030010;NM_001161473;U10868;X75688 AAA83428;AAH02553;AAH13584;AAH14168;AAH33099;AAP88834;ABM82378;ABM85557;ABN58743;BAD92888;BAF84194;EAW74678;EAW74679;EAW74680;EAW74681;EAW74682;EAW74683;NP_000685;NP_001025181;NP_001154945;P43353 Hs.523841 1851260;2143246;2145217;5015619;5037552 D11S2423;D11S3114;D8S2279;RH69713;STS-AA026629 ALDH4;ALDH7;FLJ26433;FLJ34710 aldehyde dehydrogenase 3B1;aldehyde dehydrogenase 7;aldehyde dehydrogenase family 3 member B1 APPROVED protein-coding ENSG00000006534 410 02716 600466 REVIEWED 1345188 ALDH7A1P2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 2 q31.1 173758491 173759111 - 9417906;9417906 542 ABBA01020743;AC009484;AMYH01011270;NG_023632 ATQL2 aldehyde dehydrogenase 7 family, member A1 pseudogene 2 APPROVED pseudo 879 VALIDATED 735245 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 p22 24603176 24645414 + 24495197 24537435 + 632258;1580863;6480464;6907045;7240710 7814412 16199352;9683595;15037717;19343046;19300440;19086053;18505418;17913586;17457693;16786440;16406321;15642443;15489334;14981524;14635103;14574404;12629812;12477932;12208142;11901270;11243727;9059628;6470007;20659789;19667317;20201926;20379614;20877624;20363598;20301374;22939629;21438145;18029348;20445195;18457437;22437753;22001757 7915 C9J8Q5;F5H328;P51649;Q546H9 ABBA01066536;AJ427353;AJ427354;AJ427355;AK025722;AK290800;AK294699;AK314357;AK315380;AL031230;AMYH01016151;BC034321;CH471087;L34820;NG_008161;NM_001080;NM_170740;X92753;Y11192 AAA67057;AAH34321;ABM82597;ABM85783;BAF83489;BAG37773;BAG57857;CAA72076;CAD20882;CAD20883;CAD20884;EAW55452;EAW55453;EAW55454;NP_001071;NP_733936;P51649 Hs.371723 1651887;1653988;1666351;1792858;1795350;5014051;5022651;5037552 ALDH5A1_295;D11S2921;D8S2278;D8S2279;PMC166143P14;RH48155;STS-D25573;WI-11539 SSADH;SSDH NAD(+)-dependent succinic semialdehyde dehydrogenase;OTTHUMP00000016088;OTTHUMP00000214393;OTTHUMP00000214394;aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase);aldehyde dehydrogenase family 5 member A1;aldehyde dehydrogenase family 5, subfamily a1;mitochondrial succinate semialdehyde dehydrogenase;succinate-semialdehyde dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000112294 408 08361 271980;610045 REVIEWED 1346272 ALDH4A1 aldehyde dehydrogenase 4 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009] 1 1 p36 19070513 19101659 - 19197924 19229293 - 1580863;6480464;6907045;7240710 8621661;16710414;16341674;15489334;14986171;12477932;9700195;8125298;4851275;1286669;500817;14679154;19898482;20453000;20877624;23568457;21832049;21988832;21890473;22516612 8659 D2D4A3;Q5TF55;Q9UDI6 ABBA01059748;ABBA01059749;AK222486;AK289972;AK294552;AL080251;AL954340;AMYH01000310;BC007581;BC023600;BM856369;BX537160;BX649081;CH471134;DC318624;FJ462711;NG_012283;NM_001161504;NM_003748;NM_170726;U24266;U24267 AAC50500;AAC50501;AAH07581;AAH23600;ABM84431;ABM87488;ACN89883;BAD96206;BAF82661;BAG57755;EAW94858;EAW94859;EAW94860;NP_001154976;NP_003739;NP_733844;P30038 Hs.77448 1688815;1766509;1795348;1847477;2161990;2174390 ALDH4A1_1756;D1S3604;RH80741;SHGC-149828;SHGC-74303;SHGC-74312 ALDH4;DKFZp779M035;P5CD;P5CDh OTTHUMP00000002544;OTTHUMP00000002545;P5C dehydrogenase;aldehyde dehydrogenase family 4 member A1;delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial;mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase APPROVED protein-coding ENSG00000159423 406 06009 239510;606811 REVIEWED 1353754 ALDH7A1P3 aldehyde dehydrogenase 7 family, member A1 pseudogene 3 7 7 7 q36 144795796 144796319 - 149869653 149870176 - 150238720 150239243 - 9417906 543 AACC02000108;ABBA01035185;AC069304;AF002694;AMYH01018140;NG_001083 ATQL3 APPROVED pseudo 880 INFERRED 1350929 ALDH7A1P4 aldehyde dehydrogenase 7 family, member A1 pseudogene 4 10 10 10 q21 57768131 57768580 - 64170848 64171297 - 64500750 64501154 - 9417906;22747683 544 ABBA01019491;AC067751;AF002695;AMYH01002774;NG_001084 ATQL4 APPROVED pseudo 881 INFERRED 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 10 10 10 q26.13 121130663 121132039 - 127344579 127346853 - 127355249 127356625 - 3674018;2828224 228 ABBA01034168;AL158835;AMYH01003162;M21191;NG_005637 Hs.652473 1735996;5017689 ALDOA;D10S1286E pseudo 416 INFERRED 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3 3 3 p21.2 52206379 52208324 + 52202001 52204170 + 52227061 52229007 + 3674018 391538 ABBA01024511;AC006252;AC097637;AMYH01013182;NG_004867 1684618;1744329;5017689 ALDOA;GDB:451697;RH47250 pseudo 415 INFERRED 1319646 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010] 6 6 6 q23.2 135978855 136011613 - 135280221 135312937 - 135238528 135271260 - 1580863;6480464 11007799;19343046;12477932;8125298;16344560;21832049 64577 E9PKV1;H0YF40;Q9H2A2 ABBA01025846;ABBA01025847;ABBA01025848;AF303134;AK074266;AK222848;AK290784;AK298325;AL021939;AL445190;AMYH01016690;BC020849;BC113862;BC114473;BF590409;BX647324;CH471051;DA635162;NG_012261;NM_001193480;NM_022568;NM_170771 AAG42417;AAI13863;AAI14474;BAD96568;BAF83473;BAH12757;EAW47985;EAW47986;NP_001180409;NP_072090;NP_739577;Q9H2A2 Hs.486520 1665743;1795352;2181511 ALDH8A1_1599;STS-N70701;STS-R89092 ALDH12;DJ352A20.2;DKFZp779D2315;MGC138650 OTTHUMP00000017250;OTTHUMP00000017251;OTTHUMP00000234165;aldehyde dehydogenase 8 family, member A1;aldehyde dehydrogenase 12;aldehyde dehydrogenase family 8 member A1;aldehyde dehydrogenase family protein APPROVED protein-coding ENSG00000118514 15471 06974 606467 REVIEWED 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 421 1344188 ALDH6A1 aldehyde dehydrogenase 6 family, member A1 This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 14 14 14 q24.3 54563821 54588152 - 73596622 73620949 - 74526869 74551196 - 633220;1580863;6480464;6907045;7240710 1527093 19343046;15909363;15489334;14718574;12477932;10947204;8125298;20585627;20379614;18029348;20877624;21988832;21863277 4329 G3V4Z4;J3KNU8;Q02252 ABBA01030732;ABBA01030733;ABBA01030734;AC005484;AF038011;AF148505;AF148855;AF159889;AI244036;AJ249994;AK222687;AK223244;AK294243;AK311478;AK312389;AMYH01005851;AW418653;BC004909;BC032371;CH471061;M93405;NG_012257;NM_001278593;NM_001278594;NM_005589 AAA36328;AAB92620;AAF04489;AAF80380;AAG29581;AAH04909;AAH32371;ABM83847;ABM84606;ABW03530;BAD96407;BAD96964;BAG35306;BAG57539;CAB76468;EAW81158;EAW81159;EAW81160;NP_001265522;NP_001265523;NP_005580;Q02252 Hs.293970;Hs.744472 1652525;1675724;1688963;2110249;2150696;5124539 ALDH6A1_3184;RH69632;RH92479;RH98826;SHGC-54582;STS-R00273 MGC40271;MMSADHA;MMSDH OTTHUMP00000245431;OTTHUMP00000245432;aldehyde dehydrogenase family 6 member A1;malonate-semialdehyde dehydrogenase;methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial;mitochondrial acylating methylmalonate-semialdehyde dehydrogenase APPROVED protein-coding ENSG00000119711 7179 04416 603178;614105 REVIEWED 737371 ALDOB aldolase B, fructose-bisphosphate Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] 9 9 q21.3-q22.2 103223479 103237926 - 104182842 104198062 - 1300369;1599063;1580863;2313432;2313434;2313440;2313414;1599639;2313429;2302804;2302796;2313437;6480464;6484113;6907045;7240710 8096362;15532022;8264573;12646233;11904435;19106228;16127739;8403244;8255543;5251864;2984252 21832049;17576770;9244396;10625657;18000879;18029348;18700007;18541450;17955389;17457694;17292585;16406649;15880727;15063762;14966907;12477932;12464284;12417303;12205126;11752456;11679716;11399750;11241348;10970798;10024431;8535439;8299883;8162030;7717389;6689266;6585824;6548561;3383242;3016456;3000275;2830249;2649152;2410860;2336380;1967768;20162364;19817957;20033295;21166391;20848650;20882353;22505724;22001757;21890473;21963094;21987572;21988832;22911800 229 P05062;Q5T7D5 ABBA01042874;AK026411;AK290795;AL353621;AMYH01021579;AV645373;AV656265;AW242415;BC029399;BG616536;CH471105;D00183;M15656;NG_012387;NM_000035;X00270;X01098;X02747 AAA51691;AAH29399;BAA00125;BAF83484;CAA25072;CAA25572;CAA26526;EAW58951;EAW58952;NP_000026;P05062 Hs.530274 1668366;1681185;1694892;1699394;1712182;1722427;1741583;1741629;1742007;1742607;1743841;2143814;2170464;2179683;2181332;5111296;5491934 ALDOB-1;D9S1710;D9S2043;G31116;G44329;G54142;G60287;GDB:181545;GDB:181596;GDB:188697;GDB:198061;GDB:374776;RH103288;RH11595;RH46544;RH80895;STS-T50700 ALDB;ALDO2 OTTHUMP00000021803;OTTHUMP00000021804;aldolase 2;aldolase B, fructose-bisphosphatase;fructose-bisphosphate aldolase B;liver-type aldolase APPROVED protein-coding ENSG00000136872 417 01972 229600;612724 REVIEWED 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 426 68603 ALDH9A1 aldehyde dehydrogenase 9 family, member A1 This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008] 1 1 q23.1 163898073 163934524 - 165631449 165667900 - 1300048;1580863;6480464;6907045 2925663;8645224;18029348;19343046;19064610;18334916;16710414;12477932;11790142;10702312;9417993;8786138;8269919;8112751;21145461;19536175;19615732;20379614;20562859;20877624;22863883;22990118;15893726;20639865;21139048;21890473;21906983;22505724 223 B4DXY7;B9EKV4;P49189 ABBA01047280;AF172093;AK293520;AK301767;AK302183;AK302191;AK302654;AK312751;AL451074;AMYH01001470;AMYH01001471;BC011410;BC070030;BC151140;BC151141;CH471067;NG_012256;NM_000696;U34252;U50203;X75425 AAB06721;AAB18827;AAF43600;AAI51141;AAI51142;BAG35618;BAG57002;BAG63226;BAG63549;BAG63554;BAG63893;CAA53176;EAW90758;NP_000687;P49189 Hs.2533 1654374;1768091;1797274;2133900 ALDH9A1_701.2;D1S3343;WI-12686;WI-9287 ALDH4;ALDH7;ALDH9;E3;TMABADH 4-trimethylaminobutyraldehyde dehydrogenase;OTTHUMP00000032604;R-aminobutyraldehyde dehydrogenase;aldehyde dehydrogenase (NAD+);aldehyde dehydrogenase E3 isozyme;aldehyde dehydrogenase family 9 member A1;gamma-aminobutyraldehyde dehydrogenase APPROVED protein-coding ENSG00000143149 412 04109 602733 REVIEWED 1318489 ALDH7A1 aldehyde dehydrogenase 7 family, member A1 The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011] 5 5 q31 125908344 125958839 - 125877533 125931082 - 1580863;6480464;6907045;7240710 22305855;9417906;19294602;18854520;18717709;17721876;17433748;17088338;17068770;16491085;16344560;16159904;15489334;14702039;12766061;12477932;10978228;8088832;16169070;19128417;19142996;19885858;20072603;20512086;20562859;20207735;20639122;20814824;20877624;20301659;21832049;22863883;21185811;21338592;18029348;21647815;23376216;21139048;21890473;21988832;22249334;23054014;22784480 501 F8VS02;F8VVF2;F8WD33;F8WDY6;H0YHM6;P49419 ABBA01068902;ABBA01068903;ABBA01068904;AC093535;AC099513;AF002696;AI039375;AK021800;AK092507;AK123774;AK295526;AK297365;AK312459;AMYH01015600;AU135961;BC002515;BC071712;BC073174;BG680326;BU153725;CD678674;CH471086;DB501575;DC375277;NG_008600;NM_001182;NM_001201377;NM_001202404;S74728 AAB31966;AAC51935;AAH02515;AAH71712;AAH73174;ACE86594;ACE87275;BAG35366;BAG58439;BAG59812;EAW48851;NP_001173;NP_001188306;NP_001189333;P49419 Hs.483239 1339760;1340256;1661133;1664391;1669199;2124327;2140109;2144152;2149256;2155264;2186912;5022651;5109362 AFMa128xh5;D11S2921;D17S1239;D5S1933;D5S1972;D5S2017;D5S2464;D5S2596;D5S2646;RH47147;RH65314;RH78357;SGC30136 ATQ1;EPD;FLJ11738;FLJ92814;PDE 26g turgor protein homolog;OTTHUMP00000159189;OTTHUMP00000242046;P6c dehydrogenase;aldehyde dehydrogenase family 7 member A1;alpha-AASA dehydrogenase;alpha-aminoadipic semialdehyde dehydrogenase;antiquitin 1;antiquitin-1;betaine aldehyde dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenase;delta1-piperideine-6-carboxylate dehydrogenease APPROVED protein-coding ENSG00000164904 877 00124 107323;266100 REVIEWED 69125 ALDOC aldolase C, fructose-bisphosphate This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008] 17 17 cen-q12 23924260 23928078 - 26900133 26903951 - 734555;1300048;1580863;2301132;2301133;2301134;2301136;6480464;6907045 3105602;17182680;17053973;16356555;3830170 19405953;19110265;19034380;16916647;15589842;15537755;15489334;12477932;11876650;9110174;8619474;5230152;3674018;3267224;2731939;2209624;11399750;9244396;21145461;19686046;20381070;17500595;22863883;22939629;16196087;21139048;21906983;22053931;22505724;22797925 230 A8MVZ9;C9J8F3;J3KSV6;J3QKK1;J3QKP5;K7EKH5;P09972 ABBA01015052;AC005726;AF054987;AK293453;AK293623;AK293693;AK294091;AK294157;AK296039;AK296053;AK312281;AMYH01008279;BC003613;BC065565;BC103760;BC106925;BC106926;BF345067;BT007006;CH471159;CR541862;CR541881;HI574194;NM_005165;X05196;X07292 AAC09348;AAH03613;AAH65565;AAI03761;AAI06926;AAI06927;AAP35652;BAG35210;BAH11512;BAH11551;BAH11572;BAH11668;BAH11685;BAH12243;BAH12245;CAA28825;CAA30270;CAG46660;CAG46679;CBX47586;EAW51104;EAW51105;NP_005156;P09972 Hs.155247 1663727;1698818;2107827 ALDOC_8198;G21480;RH102973 ALDC OTTHUMP00000163435;OTTHUMP00000163436;OTTHUMP00000163437;aldolase 3;aldolase c, fructose-biphosphate;brain-type aldolase;fructoaldolase C;fructose-1,6-biphosphate triosephosphate lyase;fructose-bisphosphate aldolase C APPROVED protein-coding ENSG00000109107 418 02386 103870 REVIEWED 1348986 ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) X q23 110811069 110818680 + 737633;1580863;6907045 12477932 16100110;15772651;15489334;8218172;2649653;2341393;2283726 55849 D6RD27;D6RE84 AF220051;AL096764;BC005336;CH471120;CR604429;NM_018466 AAF67644;AAH05336;EAX02634;EAX02635;EAX02636;EAX02637;NP_060936;Q9NP73 Hs.659791 1678723;1694094;1702312;1702418;1716793;1851404;2174442 AL035135;DXS7012E;RH121691;RH93842;SHGC-16527;UniSTS:99323;WI-14094 CXorf45;GLT28D1;MDS031;YGL047W protein-coding 30881 06635 300776;300884 735815 ALDOA aldolase A, fructose-bisphosphate The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011] 16 16 p11.2 29971992 29989236 + 30064411 30081741 + 1599054;1599061;1300048;1580863;2302796;2325696;6480464;6484113;6907045;7240710 16930621;10395295;5251864;19077459 1008835;10048322;14766013;17329259;14615364;9244396;17641064;19242545;18328256;18278581;18214967;18029348;17081983;16916647;16344560;16289162;16236267;16097034;15952740;15592455;15489334;15231747;14760703;14669989;12665801;12477932;11876650;11399750;11287212;10369770;8598869;8103323;7821789;6696436;6406231;3840020;3674018;3570299;3441006;3391172;3355497;3046960;3030757;2825199;2335208;2229018;2065091;2056525;1999195;1602151;1353685;955981;844801;766744;14499622;21145461;21319273;19615732;19741270;20181627;20381070;20362419;16712791;20029029;20511553;15967462;12601813;22863883;22990118;23077236;23106098;22996014;21307348;21555518;16335966;22939629;16196087;19135240;20000738;16027165;21853274;22053931;22505724;22944692;22623531;16263121;19738201;19805454;20706999;21565611;21988832;22304920;22623428;23000965;23349634;18781797;20639865;20849852;21078624;21081666;21139048;21890473;21906983;21963094;21987572;22079093;22108332;19471022;16009940;21044950;21628590;22536838 226 H3BMQ8;H3BPS8;H3BQN4;H3BR04;H3BR68;H3BU78;H3BUH7;H3BUK5;J3KPS3;P04075 ABBA01013105;ABBA01013106;AC093512;AK026577;AK098778;AK301993;AK308495;AK308748;AMYH01007497;BC000367;BC004333;BC010660;BC012880;BC013614;BC015888;BC016170;BC016800;BE893518;BQ719865;BU855133;BX647566;CB151262;CH471238;CR536528;CR541880;D28356;DA138954;DA564075;DA893541;DA899482;DB057572;EF036496;EF036497;M11560;M21190;NG_008010;NM_000034;NM_001127617;NM_001243177;NM_184041;NM_184043;X05236;X06352;X12447 AAA51690;AAA51697;AAH00367;AAH04333;AAH10660;AAH12880;AAH13614;AAH15888;AAH16170;AAH16800;ABM81991;ABM85172;ABO65082;ABO65083;BAA05722;BAG63399;CAA28861;CAA29654;CAA30979;CAG38765;CAG46678;EAW79933;EAW79934;EAW79935;EAW79936;NP_000025;NP_001121089;NP_001230106;NP_908930;NP_908932;P04075 Hs.513490;Hs.732822 1679840;1680200;1684618;1685077;1735996;1736544;1744329;1769875 D10S1286E;D10S2367;D16S2545E;GDB:451697;RH47250;RH67859;RH80798;hsaldoa ALDA;GSD12;MGC10942;MGC17716;MGC17767 OTTHUMP00000162983;OTTHUMP00000162984;aldolase a;fructose-1,6-bisphosphate triosephosphate-lyase;fructose-bisphosphate aldolase A;lung cancer antigen NY-LU-1;muscle-type aldolase APPROVED protein-coding ENSG00000149925 414 00070 103850;611881 REVIEWED 1344377 ALG10B ALG10B, alpha-1,2-glucosyltransferase 12 12 12 q12 37514920 37527825 + 36996824 37009795 + 38710557 38723528 + 6480464;6907045 16344560;15280551;14702039;14525949;12477932;19483685;20950623;21906983 144245 F8VWA9;F8VXJ0;Q5I7T1 ABBA01049520;ABBA01049521;AC117372;AK123102;AK307955;AMYH01004385;AY845858;BC137413;BC137414;BQ024224;CH471111;DB224774;DB254106;NM_001013620 AAI37414;AAI37415;AAW31756;EAW57795;NP_001013642;Q5I7T1 Hs.259305 1694724;5024545 D1S3695;G43553 ALG10;KCR1 OTTHUMP00000240708;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-B;asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B;asparagine-linked glycosylation protein 10 homolog B;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;modifier of the HERG potassium channel;potassium channel regulator 1;putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;putative alpha-1,2-glucosyltransferase ALG10-B APPROVED protein-coding 31088 11923 VALIDATED 1604899 ALG11 ALG11, alpha-1,2-mannosyltransferase This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] 13 13 13 q14.2 33635189 33652418 + 51484551 51501781 + 52586523 52603784 + 6480464;6907045;7240710 17353931;16354793;12477932;20080937;15342556;21139048;20301507;22213132 440138 Q2TAA5;Q5TAP0 ABBA01051053;ABBA01051054;AK025456;AK128503;AK296747;AL139082;AL162377;AMYH01005116;BC010857;BC073862;BC108677;BC111022;BC142998;BP373026;DC366525;HH961780;NG_028038;NM_001004127;NR_036571 AAH10857;AAH73862;AAI11023;AAI42999;AAI43060;AAI50317;BAG59331;CBX51363;NP_001004127;Q2TAA5 Hs.512963;Hs.732220 1648904;1700368;2114518;2124859;2130738 RH103804;SHGC-3226;SHGC-8883;STS-R36092;WI-13764 CDG1P;GT8;KIAA0266;UTP14C GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;OTTHUMP00000018446;UTP14, U3 small nucleolar ribonucleoprotein, homolog C;asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 11 homolog;glycolipid 2-alpha-mannosyltransferase APPROVED protein-coding ENSG00000253710 32456 11265 613661;613666 REVIEWED 6903413 ALG1L12P asparagine-linked glycosylation 1-like 12, pseudogene 8 12278528 12283783 + 100421097 AC087203;AMYH01018523;NG_026086 pseudo 44381 INFERRED 6903415 ALG1L14P asparagine-linked glycosylation 1-like 14, pseudogene 4 9167906 9174517 - 100996649 AC108519 pseudo 44383 MODEL 1321758 ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008] 16 16 16 p13.3 5331197 5346774 + 5061821 5075589 + 5121810 5137380 + 6480464;6907045;7240710 10704531;16344560;16303743;15489334;14973782;14973778;14709599;12975309;12477932;20379614;20679665;16341674;22966035;20301507;21963094;22678362;21987572;21139048;21890473;22359512 56052 B4DP08;K7EID2;K7EPU3;K7EQK1;Q9BT22 AA810665;AB019038;ABBA01026798;ABBA01026799;AC026458;AK075373;AK298144;AK311475;AMYH01007111;AY359073;BC004402;BC031095;BC031873;BM767933;BQ002699;CA455103;CD366777;CH471112;CS051167;DA879477;NG_009202;NM_019109 AAH04402;AAH31095;AAQ89432;ABM85936;ABW03760;BAA90748;BAC11576;BAG60420;CAI72079;EAW85240;EAW85241;NP_061982;Q9BT22 Hs.592086 5112137 a06503sbk CDG1K;HMAT1;HMT-1;HMT1;MT-1;Mat-1;hMat-1 GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase;GDP-mannose-dolichol diphosphochitobiose mannosyltransferase;MT-1;OTTHUMP00000159923;asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase);asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog;asparagine-linked glycosylation protein 1 homolog;beta-1,4 mannosyltransferase;beta-1,4-mannosyltransferase;chitobiosyldiphosphodolichol beta-mannosyltransferase;hMat-1;mannosyltransferase-1 APPROVED protein-coding 18294 10437 605907;608540 REVIEWED 6901169 ALG1L15P asparagine-linked glycosylation 1-like 15, pseudogene 3 q25.31 155761918 155762739 - 730086 ABBA01058844;AC067721;AC125607;AMYH01013597;NG_008778 1757743;1784704 SHGC-146410;SHGC-149644 pseudo 44384 INFERRED 6903417 ALG1L3P asparagine-linked glycosylation 1-like 3, pseudogene 4 p16.1 9704468 9712436 - 9847074 100132066 ABBA01032504;ABBA01032505;AC098976;AC105916;AMYH01013991;NG_008784 1802842;2020044 ECD02309;REN80978 pseudo 44372 INFERRED 1312492 ALG12 ALG12, alpha-1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34218131 34233386 - 48682856 48698110 - 50296852 50312106 - 6480464;6907045;7240710 12217961;15498874;15489334;15461802;15273506;15272470;12736397;12477932;12093361;11983712;10591208;21963094;21988832;20301507 79087 H7C4I6;H7C5R7;Q9BV10 ABBA01031320;AF258571;AF318343;AJ290427;AJ303120;AL671710;AMYH01012887;BC001729;BC098562;BM145575;CB858085;CH471138;CR456369;NG_008927;NM_024105 AAG23774;AAH01729;AAH98562;AAL55850;ABM83756;ABM87075;CAC67488;CAC83681;CAG30255;CAK54650;CAK54949;EAW73480;EAW73481;EAW73482;NP_077010;Q9BV10 Hs.526711 1657410;1684562;1686438;1758453 D22S972E;RH80254;SHGC-148387;SHGC-36778 CDG1G;ECM39;MGC111358;MGC3136;PP14673;hALG12 OTTHUMP00000196969;asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase);asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog;asparagine-linked glycosylation protein 12 homolog;dol-P-Man dependent alpha-1,6-mannosyltransferase;dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase;dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase;dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase;mannosyltransferase ALG12 homolog;membrane protein SB87 APPROVED protein-coding ENSG00000182858 19358 06189 607143;607144 REVIEWED 1345350 ALG10 ALG10, alpha-1,2-glucosyltransferase This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010] 12 12 12 p11.1 13983778 13989799 + 34066483 34072504 + 34175216 34181237 + 6480464;6907045;7240710 15489334;14702039;14525949;12477932;12200473;9722534;9597543;17903297;19204726;21139048;21890473;21906983;20301308 84920 F5GZZ6;F5H5T2;Q5BKT4 ABBA01031684;AC046130;AJ312278;AK027657;AK292488;AMYH01004380;BC022336;BC033730;BC070347;BC075807;BC090948;CH471116;NG_016389;NM_032834;W05355 AAH70347;AAH90948;ABM82982;ABM86176;BAB55272;BAF85177;CAC41349;EAW88508;NP_116223;Q5BKT4 Hs.102971 1680715 RH47812 ALG10A;DIE2;FLJ14751;KCR1 OTTHUMP00000240685;alpha-1,2-glucosyltransferase ALG10-A;alpha-2-glucosyltransferase ALG10-A;alpha2-glucosyltransferase;asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase);asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog;asparagine-linked glycosylation protein 10 homolog A;derepression of ITR1 expression 2 homolog;dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase;dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase;potassium channel regulator 1 APPROVED protein-coding 23162 603313;613688 REVIEWED 6903436 ALG1L5P asparagine-linked glycosylation 1-like 5, pseudogene 7 p22.1 6963443 6971462 + 9847074 647415 ABBA01056512;AC079804;AMYH01017056;NG_008785 2020020;2020188 REN80963;REN81060 pseudo 44374 INFERRED 6901398 ALG1L7P asparagine-linked glycosylation 1-like 7, pseudogene 4 p16.3 3937173 3946775 + 728263 ABBA01008231;ABBA01008232;AC143342;AC226119;AMYH01013898;NG_008780 2020190;2114920;5019699 A009G03;G32520;REN81062 pseudo 44376 INFERRED 6903419 ALG1L8P asparagine-linked glycosylation 1-like 8, pseudogene 11 q13.2 67552741 67560816 + 645015 ABBA01024026;AP003716;NG_008772 1768459;2020022;2020024;2020042;2020064;2020070 REN80967;REN80968;REN80977;REN80988;REN80994;SHGC-77297 pseudo 44377 INFERRED 1605265 ALG1L ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 3 3 3 q21.2 124067856 124075639 - 127130808 127138572 - 125648118 125655887 - 12477932 200810 Q6GMV1 ABBA01016401;AC092903;AMYH01013445;BC073816;BI085096;CD685738;CH471052;NM_001015050;NM_001195223 AAH73816;ADR82727;EAW79378;EAW79379;EAW79380;EAW79381;NP_001015050;NP_001182152;Q6GMV1 Hs.591299 1699212;1768459 RH103187;SHGC-77297 ALG1L1 OTTHUMP00000215882;asparagine-linked glycosylation 1-like 1;beta-1,4-mannosyltransferase-like;putative glycosyltransferase ALG1-like APPROVED protein-coding ENSG00000189366 33721 18574 VALIDATED 7241605 ALG3P1 ALG3, alpha-1,3- mannosyltransferase pseudogene 1 15108280 442131 ABBA01016136;AC091978;AMYH01014877;BK001241;NG_004807 pseudo 45159 INFERRED 3378598 ALG1L2 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2 3 3 3 q22.1 128227614 128245632 + 131283550 131300274 + 129800674 129817233 + 12477932;21890473 644974 C9J202 ABBA01059209;AC083906;AMYH01013485;BI833803;CH471052;NM_001136152 C9J202;EAW79228;NP_001129624 Hs.722197 1662590;1665297;1802842;1834048;2020024;2020060;2020078;2020140;2099824;5112137 D21S1819;ECD02309;ECD18172;REN80968;REN80986;REN80998;REN81031;SHGC-52066;a06503sbk;stSG606397 asparagine-linked glycosylation 1-like 2;beta-1,4 mannosyltransferase-like;putative glycosyltransferase ALG1L2 APPROVED protein-coding ENSG00000251287 37258 VALIDATED 1604512 ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit Asparagine (N)-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 (MIM 612866) constitute the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation (Averbeck et al., 2007 [PubMed 17686769]).[supplied by OMIM, Jun 2009] 1 1 1 p21.3 93702743 93792951 - 95220885 95311071 - 95448279 95538507 - 6480464;6907045 16100110;15615718;15489334;12477932;17686769;21139048;21890473;22359512;23362303;23404334 199857 Q96F25 ABBA01045501;AC095033;AC105942;AK289395;AMYH01000810;BC011706;BX322578;CH471097;NM_144988 AAH11706;BAF82084;EAW73026;EAW73027;NP_659425;Q96F25 Hs.408927 1337799;1719871;1781856;1847742;2146813 AL009319;AL009906;D1S2819;RH123629;SHGC-84177 MGC19780 OTTHUMP00000012469;UDP-N-acetylglucosamine transferase subunit ALG14 homolog APPROVED protein-coding ENSG00000172339 28287 14466 612866 VALIDATED 6900943 ALG1L6P asparagine-linked glycosylation 1-like 6, pseudogene 3 p12.3 75464218 75473882 + 12477932;16344560 339879 ABBA01030984;AC139453;AMYH01013289;AMYH01013290;NG_008769 1699212 RH103187 pseudo 44375 INFERRED 6903390 ALG1L9P asparagine-linked glycosylation 1-like 9, pseudogene 11 q13.4 71511277 71515701 - 12477932 285407 ABBA01017546;AL534280;AMYH01003789;AP002495;BC054093;BC073927;NR_073386;NR_073387;NR_073388;R18473 Hs.546711;Hs.657094;Hs.689051;Hs.744693 5037552;5110807 D11S3974;D8S2279 pseudo 44378 VALIDATED 6481017 ALG9-IT1 ALG9 intronic transcript 1 (non-protein coding) 100874303 AP001781 miscrna 41409 1353820 ALK anaplastic lymphoma receptor tyrosine kinase This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] 2 2 p23 29269144 29997936 - 29415640 30144477 - 1600902;1580863;6480464;7240710 15659732 18974134;22203728;19167335;9053841;9174053;11121404;19506219;19459784;19423729;19386350;19305144;19286999;19135051;19074885;18990089;21757253;18923525;18923524;18923523;18845790;18724359;18660380;18615104;18594010;18593892;18458503;18451166;18414414;18320074;18242762;18220322;18166835;18165268;18097461;18083107;18070884;17998938;17922009;17904822;17690253;17681947;17537995;17490616;17274988;17077326;17071493;16880530;16878150;16835382;16825495;16766651;16709933;16651537;16623783;16604305;16565220;16254137;16161041;16153455;15938644;15933425;15928040;15886198;15713979;15592455;15583856;15226403;15161657;15004538;14962911;14656879;14563642;12800156;12763927;12213716;12185581;12122009;12115586;12112524;12036886;11943732;11888936;11877285;11850821;11809760;11387242;11278720;10556217;9819383;9490693;8633037;8122112;18927303;21205076;20424160;20695522;20554525;19131589;20632993;10641597;14968112;18549625;18677384;18788887;19147828;19176054;19250532;19531656;19535344;19589272;19636007;19656549;19656550;19667264;19671850;19717436;19723661;19737969;19834503;20009909;20101209;20169312;20185586;20379614;20731666;20970119;21070126;19887368;20805506;20428197;16344560;19383809;21030459;20621063;20624322;20719933;20098747;20393185;20934803;21129606;21164297;20451371;20957039;21045017;21474455;21356191;21107285;21076462;21420271;21258247;21278610;22249260;22895149;22705117;21233286;21575866;21488949;21656749;21233844;21036415;21753699;21430068;21471522;21518927;23639470;23455922;23490651;21358343;21288922;21336183;21596819;21989914;21587085;21642865;21847065;21784300;21799923;21847362;19455469;22736493;21765024;21933749;21734404;21625996;22124476;22134072;22157554;22071890;22334013;12748172;21632861;22080568;21940108;22286764;23401436;22280150;22334442;22385925;23407557;23407559;22810114;22939624;23064464;23070248;22085494;22071784;19815557;21855164;22129856;22317764;22570254;22184391;22471704;21720997;21972109;20301782;22135231;22327622;22327623;22439933;22646268;16135792;22726922;22569898;22932897;22748945;23154552;22743652;22743654;23050789;23084186;23092569;22892933;23020707;23338972;23139213;22086496;22484425;23335077;22282022 238 B6D4Y2;E7EPW7;H7BZ33;Q9UM73 AB209477;ABBA01045244;ABBA01045245;ABBA01045246;ABBA01045247;ABBA01045248;ABBA01045249;ABBA01045250;ABBA01045251;ABBA01045252;ABBA01045253;ABBA01045254;ABBA01045255;AC074096;AC093756;AC098874;AC106870;AC106899;AK296218;AMYH01010209;AMYH01010210;AMYH01010211;AMYH01010212;AMYH01010213;AMYH01010214;CH471053;DA455128;EU788003;EU788004;EU788005;EU788006;EU788007;EU788008;EU788009;EU788010;FJ838786;FJ838787;GM868985;GU128152;GU128153;GU128154;GU128155;GU128156;GU128157;NG_009445;NM_004304;U62540;U66559 AAB71619;AAC51104;AAI56208;AAI57091;AAX76514;AAX88892;AAX93126;AAY15027;ACI47591;ACI47592;ACI47593;ACI47594;ACI47595;ACI47596;ACI47597;ACI47598;ACY79560;ACY79561;ACY79562;ACY79563;ACY79564;ACY79565;ACZ57900;ACZ57901;BAD92714;BAG58942;CAT16962;EAX00506;EAX00507;EAX00508;NP_004295;Q9UM73 Hs.654469 1298117;1298125;1340486;1646079;1679926;1694698;1696272;1703826;1707294;1710328;1718855;1724041;1726595;1756735;1760911;1764737;1770036;1784004;1784104;1787544;1857791;2140441;2165040;7184043;7184990 D2S146;D2S390;D2S405;FB8C12;G19150;G29204;G43539;G62530;RH119031;RH123131;RH70535;RH92401;SHGC-142979;SHGC-143855;SHGC-144661;SHGC-148322;SHGC-153445;SHGC-155671;SHGC-78963;SHGC-79251;SHGC-82409;SHGC-83664;WI-13310 CD246;NBLST3;TFG/ALK ALK tyrosine kinase receptor;CD246 antigen;OTTHUMP00000201048;anaplastic lymphoma kinase;anaplastic lymphoma kinase (ki-1);mutant anaplastic lymphoma kinase APPROVED protein-coding ENSG00000171094 427 00104 105590;613014 REVIEWED 1320554 ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 9 9 q22.33 101018528 101024067 - 101978707 101984246 - 6480464;6907045;7240710 12684507;14999017;11883939;12445460;16957052;17045351;17196169;11278427;19383317;19013425;18936101;17889823;16344560;16303743;15489334;15273506;15272470;15164053;14702039;12975309;12477932;16004603;12804766;20691033;19520058;16751776;20571937;20834162;16996505;18256029;21906983;12771190;17174262;20301507;21890473;23404334;22437941 85365 Q9H553 AA017454;AB161356;ABBA01042903;AK027417;AK027814;AK074704;AK074988;AK075172;AK075189;AL137067;AMYH01021565;AY358697;BC015126;BC017876;CH471105;CQ782967;CQ783609;DA076693;DB019023;NG_008928;NM_033087;NR_024532 AAH17876;AAQ89060;ABM82915;ABM86105;BAB55099;BAC11150;BAC11337;BAC11449;BAD11905;BAG51380;CAF86196;CAF86774;EAW58908;EAW58909;EAW58910;EAW58911;NP_149078;Q9H553 Hs.40919 1683343;1698622;1770047;1772288;1852966;1856869;2110251;2178439 ALG2__4282;D9S2091;RH102866;RH48942;RH78836;RH80035;SHGC-30916;WI-11370 CDGIi;FLJ14511;NET38;hALPG2 GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase;GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase;OTTHUMP00000123474;alpha-1,3-mannosyltransferase ALG2;alpha-1,3/1,6-mannosyltransferase ALG2;asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog;asparagine-linked glycosylation protein 2 homolog;homolog of yeast ALG2 APPROVED protein-coding 23159 09716 607905;607906 REVIEWED 1314369 ALG3 ALG3, alpha-1,3- mannosyltransferase This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 3 3 3 q27.1 182400881 182408077 - 185442811 185449440 - 183960117 183967313 - 1580863;6480464;6907045;7240710 10581255;16006436;15489334;15273506;15272470;15108280;12477932;8552211;1058125;21963094;22472876;21139048;21890473;21906983;20301507;22505724 10195 B4DS50;C9J7S5;F8WE30;F8WF93;H7BZZ2;H7C0X4;Q92685 ABBA01058452;AC061705;AK289361;AK297701;AK299575;AMYH01013714;AW297350;BC002839;BC004313;BC021062;BM920198;BX339649;CH471052;CX761434;HC894865;NG_008924;NM_001006941;NM_005787;NR_024533;NR_024534;Y09022 AAH02839;AAH04313;ABM84086;ABM87455;BAF82050;BAG60059;BAG61512;CAA70220;CBN61874;EAW78282;EAW78283;NP_001006942;NP_005778;Q92685 Hs.478481 1709114;1771576;2146651 D3S2399;RH118405;SHGC-85715 CDG1D;CDGS4;D16Ertd36e;NOT56L;Not56 Not56-like protein;OTTHUMP00000210704;OTTHUMP00000210705;OTTHUMP00000210706;OTTHUMP00000210710;asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase);asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog;asparagine-linked glycosylation protein 3 homolog;carbohydrate deficient glycoprotein syndrome type IV;dol-P-Man dependent alpha(1-3)-mannosyltransferase;dol-P-Man dependent alpha-1,3- mannosyltransferase;dol-P-Man-dependent alpha(1-3)-mannosyltransferase;dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase;dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase;dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase APPROVED protein-coding ENSG00000214160 23056 03067 601110;608750 REVIEWED 1318934 ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 13 13 13 q13.3 18591143 18640745 - 36421967 36471477 - 37523907 37573504 - 1580863;6480464;6907045 10359825;15489334;15342556;12477932;11042152;8889548;21139048;21906983 29880 B4DR67;Q9Y673 ABBA01021347;ABBA01021348;ABBA01021349;AF088028;AF102850;AF161498;AF183413;AI027225;AK299085;AK299126;AL138706;AMYH01005041;BC012531;BF668393;BG482604;BP246765;BU739112;CB988638;CH471075;NM_001142364;NM_013338 AAD41465;AAF29113;AAG09682;AAH12531;BAG61149;BAG61179;EAX08577;EAX08578;NP_001135836;NP_037470;Q9Y673 Hs.507769 1662101;2132822 SHGC-34125;STS-W15306 RP11-421P11.2;bA421P11.2 Alg5, S. cerevisiae, homolog of;OTTHUMP00000018263;asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase);asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog;asparagine-linked glycosylation protein 5 homolog;dolP-glucosyltransferase;dolichyl phosphate glucosyltransferase;dolichyl-phosphate beta-glucosyltransferase APPROVED protein-coding ENSG00000120697 20266 05193 604565 REVIEWED 1318803 ALG6 ALG6, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] 1 1 p31.3 63605886 63675466 + 63833261 63904233 + 1580863;6480464;6907045;7240710 10359825;11106564;16710414;16321363;15489334;14702039;14517965;12878157;12477932;12357336;12200473;11875054;11558905;11134235;10924277;10914684;9789065;9710431;21899441;20301507 29929 A2A2G4;Q9Y672;R4GMS5 ABBA01074570;ABBA01074571;ABBA01074572;ABBA01074573;AF063604;AF102851;AI479334;AK022700;AK295286;AL049636;AL592218;AMYH01000673;AMYH01000674;AMYH01000675;AU280221;BC001253;BI819904;CB215801;CH471059;NG_008925;NM_013339 AAD41466;AAG43163;AAH01253;BAG51104;BAG58270;EAX06571;EAX06572;EAX06573;EAX06574;NP_037471;Q9Y672 Hs.258501 2109033;2128959;2140778;2148327;2191629 ALG6_9608;G16184;MARC_31587-31588:1062527482:1;RH68218;SHGC-34347 CDG1C Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;OTTHUMP00000010712;OTTHUMP00000161018;asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 6 homolog;dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase APPROVED protein-coding ENSG00000088035 23157 05194 603147;604566 REVIEWED 1342764 ALG9 ALG9, alpha-1,2-mannosyltransferase This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 11 11 q23 111158129 111247515 - 111652919 111742305 - 1580863;6480464;6907045;7240710 16859551;16381901;16344560;15945070;15489336;15489334;15148656;14702039;12477932;12030331;11230166;11076863;8125298;14519663;19451548;20301507;21906983;21963094;21988832 79796 H0YCW6;H0YEX8;H0YF48;Q9H6U8 AB096249;ABBA01039812;ABBA01039813;ABBA01039814;AF395532;AF454937;AK025498;AK172828;AK225261;AK298811;AK308025;AL136927;AMYH01004031;AP001781;BC009255;CH471065;DA257621;FP884232;NG_009210;NM_001077690;NM_001077691;NM_001077692;NM_024740 AAH09255;AAL25798;AAP97696;ABM83687;ABM86990;BAB15154;BAD18793;BAG60945;CAB66861;CAL37889;CAL38056;EAW67152;EAW67153;EAW67154;EAW67155;EAW67157;EAW67158;EAW67159;NP_001071158;NP_001071159;NP_001071160;NP_079016;Q9H6U8 Hs.745155 1682577;1768725;2163236;5020414;5022578 D11S4552;D1S1423;G17582;L17688;RH92519 CDG1L;DIBD1;DKFZp586M2420;FLJ21845;LOH11CR1J OTTHUMP00000234195;OTTHUMP00000234196;alpha-1,2-mannosyltransferase ALG9;asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase);asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase);asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog;asparagine-linked glycosylation protein 9 homolog;disrupted in bipolar affective disorder 1;disrupted in bipolar disorder protein 1;dol-P-Man dependent alpha-1,2-mannosyltransferase;dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase;loss of heterozygosity, 11, chromosomal region 1 gene J product APPROVED protein-coding 15672 09504 606941;608776 REVIEWED 1313512 ALG8 ALG8, alpha-1,3-glucosyltransferase This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q14.1 75120467 75159160 - 77489636 77528347 - 77811988 77850699 - 1580863;6480464;6907045;7240710 12200473;12480927;16344560;16303743;15489334;15273506;15272470;15235028;14702039;12477932;11124703;7566098;19648040;20379614;22318606;21963094;21988832;22306853;21139048;21890473;21906983;20301507 79053 E9PK79;E9PKA5;E9PLP7;E9PNE2;E9PP04;E9PP80;E9PP96;E9PR58;H0YCV0;H0YD42;H0YDD3;H0YDQ1;H0YDV4;H0YEE0;Q9BVK2 AA375954;ABBA01017409;ABBA01017410;ABBA01017411;ABBA01017412;ABBA01017413;AJ224875;AK075184;AK075194;AK098614;AK125912;AK309050;AMYH01003825;AMYH01003826;AP002520;BC001133;BC017892;CH471076;DB362104;NG_008926;NM_001007027;NM_024079 AAH01133;ACE87135;BAG52080;CAA12176;EAW75048;EAW75049;EAW75050;EAW75051;NP_001007028;NP_076984;Q9BVK2 Hs.503368 1657250;5037552 D8S2279;STS-N35710 CDG1H;MGC2840 HUSSY-02;OTTHUMP00000233643;OTTHUMP00000233644;asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase);asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog;asparagine-linked glycosylation protein 8 homolog;dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase;dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase;dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase;dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase;dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase;probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase APPROVED protein-coding ENSG00000159063 23161 10480 608103;608104 REVIEWED 1318033 ALKBH1 alkB, alkylation repair homolog 1 (E. coli) This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008] 14 14 14 q24.3 58177259 58212868 - 77208502 77244109 - 78138749 78174356 - 1580863;6480464 8600462;18603530;15489334;12594517;12508121;12477932;19959401;18163532;23577621;21906983;21956739;22872573 8846 G3V4M4;H0YJF3;Q13686;Q5XKL0 ABBA01030646;AC008044;AMYH01005884;BC015024;BC025787;BX537699;CH471061;NM_006020;X91992 AAF01478;AAH15024;AAH25787;ABM84629;ABM92160;CAA63047;EAW81300;EAW81301;EAW81302;NP_006011;Q13686 Hs.94542 2134774;2143566;2152596;5015881;5022450;5115304 D10S275;G35523;GDB:335751;RH46436;RH69686;STS-X91992 ABH;ABH1;ALKBH;alkB;hABH DNA lyase ABH1;DNA oxidative demethylase ALKBH1;OTTHUMP00000246383;alkb, alkylation repair homolog (e. coli);alkylated DNA repair protein alkB homolog 1;alkylation repair, alkB homolog;alpha-ketoglutarate-dependent dioxygenase ABH1 APPROVED protein-coding ENSG00000100601 17911 605345 REVIEWED 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) 19 19 19 p13.3 6311231 6314048 + 6323444 6326040 + 6372444 6375261 + 737633;6480464 12477932 15489334;12975309;8125298;21182205;21832049;22318606;23666923 84266 M0QZH2;M0QZI0;Q9BT30 ABBA01055961;AC011491;AK223336;AK311956;AMYH01009372;AY358858;AY427650;BC004393;BM271861;BX334356;CH471139;NM_032306 AAH04393;AAQ89217;AAR24624;BAD97056;BAG34896;EAW69102;NP_115682;Q9BT30 Hs.111099 1684511;2159914 RH65607;RH93760 ABH7;MGC10974;SPATA11;UNQ6002 alkylated DNA repair protein alkB homolog 7;alpha-ketoglutarate-dependent dioxygenase alkB homolog 7;probable alpha-ketoglutarate-dependent dioxygenase ABH7;spermatogenesis associated 11;spermatogenesis cell proliferation related protein;spermatogenesis cell proliferation-related protein;spermatogenesis-associated protein 11 protein-coding ENSG00000125652 21306 15425 613305 VALIDATED 1606677 ALKBH3 alkB, alkylation repair homolog 3 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 11 11 11 p11.2 44048227 44087676 + 43858971 43898389 + 43902357 43941825 + 6480464 12486230;18029348;17968469;16858410;16344560;16174769;15489334;14702039;12594517;12477932;8570611;21285982;20970119;20525795;20714506;22055184;22826605;22515525 221120 E9PN35;E9PRD0;E9PRJ2;E9PSA5;H0YDH4;Q96Q83 AB042029;ABBA01060774;AC087521;AK125602;AK315266;AMYH01003521;BC015155;BC067257;BC103812;BC103813;BC103814;CD364334;CH471064;CQ786761;DA685031;DQ196343;NM_139178;U38442 AAH15155;AAH67257;AAI03813;AAI03814;AAI03815;ABA27096;BAB70508;CAG17896;EAW68078;EAW68079;NP_631917;Q96Q83 Hs.720708 1667163;1776050;2122138 RH16415;RH48832;SGC33963 ABH3;DEPC-1;DEPC1;FLJ43614;MGC118790;MGC118792;MGC118793;PCA1 OTTHUMP00000232849;OTTHUMP00000232859;alkylated DNA repair protein alkB homolog 3;alpha-ketoglutarate-dependent dioxygenase alkB homolog 3;prostate cancer antigen 1;prostate cancer antigen-1 APPROVED protein-coding ENSG00000166199 30141 16793 610603 VALIDATED 1605008 ALKBH2 alkB, alkylation repair homolog 2 (E. coli) The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008] 12 12 q24.11 108010379 108015628 - 109525993 109531293 - 6480464 22659876;22079122;22318606;12486230;18519673;18432238;18270339;16344560;16341674;16174769;15489334;15146197;12594517;12477932;20661249;18775698;19290481;20042601;20714506;17207965;20525795;21155885;21510633;23258843;21139048;21890473;23000965;23279696 121642 F5GZZ0;F5H5S2;F5H5X2;Q6NS38 AB277859;ABBA01005060;ABBA01005061;AC011596;AI278638;AK309062;AMYH01004735;AY754389;BC070489;BM785502;BM790974;BM820131;BU623121;CH471054;CN421655;CQ786763;DA182735;NM_001001655;NM_001145374;NM_001145375;NM_001205179;NM_001205180 AAH70489;AAV28301;ADQ32022;BAF56576;CAG17897;EAW97845;NP_001001655;NP_001138846;NP_001138847;NP_001192108;NP_001192109;Q6NS38 Hs.374458 1646315;1772394;2140868;2165930 D20S1119;RH45951;STS-D60111;WI-20815 ABH2;FLJ99103;MGC90512 2OG-Fe(II) oxy DC1;DNA oxidative demethylase ALKBH2;OTTHUMP00000240521;OTTHUMP00000240522;alkylated DNA repair protein alkB homolog 2;alpha-ketoglutarate-dependent dioxygenase alkB homolog 2;oxy DC1 APPROVED protein-coding ENSG00000189046 32487 14712 610602 VALIDATED 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) 7 7 7 q22.1 97108971 97117656 - 101883690 101892293 - 102096667 102105321 - 6480464 15489334;14702039;12477932;17207965;17979886;8125298;21166655;18029348;23145062 54784 Q9NXW9 ABBA01011281;ABBA01011282;AC093668;AK000020;AK026097;AK222689;AMYH01017770;BC002820;BC017096;BX353099;CA420615;CH471197;CS300642;NM_017621 AAH02820;AAH17096;ADQ31831;BAA90888;BAB15358;BAD96409;CAK32306;EAW50249;NP_060091;Q9NXW9 Hs.658598 5014467 GDB:313557 ABH4;FLJ20013 OTTHUMP00000212413;alkylated DNA repair protein alkB homolog 4;alpha-ketoglutarate-dependent dioxygenase alkB homolog 4;probable alpha-ketoglutarate-dependent dioxygenase ABH4 protein-coding ENSG00000160993 21900 07875 613302 VALIDATED 6481119 ALMS1-IT1 ALMS1 intronic transcript 1 (non-protein coding) 100874291 AC074008 miscrna 41305 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) 19 19 19 q13.12 33214202 33219321 - 41191862 41196981 - 36500022 36505141 - 6480464 12477932;8889548 84964 E9PI76;E9PIA1;H0YD66;H0YD83;H0YDL7;H0YEC4;H0YEM5;Q3KRA9 AB273714;ABBA01018777;AC002116;AK304805;AK310130;AK310704;AK314150;AK315894;AMYH01009737;BC007601;BC036061;BC105801;BM713594;BU963363;NM_032878;NM_198867 AAI05802;BAF63844;BAF98785;BAG36837;BAG65555;NP_116267;NP_942567;Q3KRA9 Hs.71941 1670380;2110321;2153649;2161210;2169509;5015619 CLIPR-59__4586;D11S3114;D19S673E;RH12731;RH48333;WI-15016 ABH6;MGC15677 OTTHUMP00000045817;OTTHUMP00000180599;OTTHUMP00000233159;OTTHUMP00000233160;alkylated DNA repair protein alkB homolog 6;alkylation repair homolog 6;alpha-ketoglutarate-dependent dioxygenase alkB homolog 6;probable alpha-ketoglutarate-dependent dioxygenase ABH6 protein-coding ENSG00000239382 28243 17510 613304 VALIDATED 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) 11 11 11 q22.3 104528270 104591267 - 106880541 106941637 - 107373453 107436461 - 6480464 19293182;14702039;12477932;20308323;17207965;18029348 91801 C9JQN2;Q96BT7 AB218768;ABBA01039880;ABBA01039881;AF086489;AK095523;AK293603;AK298800;AK304413;AMYH01004014;AP001823;BC015183;BX649085;CH471065;NM_138775 AAH15183;ADQ31655;BAC04566;BAG16270;BAG57067;BAG60935;BAG65244;EAW67088;EAW67089;EAW67090;NP_620130;Q96BT7 Hs.503763 1680302;1739187;1748347;2168522;2176174 D11S3957;D11S4571;G17588;G66900;RH93706 ABH8;FLJ38204;MGC10235 AlkB homologue 8;OTTHUMP00000211286;OTTHUMP00000211287;OTTHUMP00000232587;S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8;alkylated DNA repair protein alkB homolog 8;probable alpha-ketoglutarate-dependent dioxygenase ABH8;tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8 protein-coding ENSG00000137760 25189 14287 613306 VALIDATED 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 17 17 17 q11 25718217 25730977 + 25880817 25893577 + 28856691 28869451 + 1570320 243 ABBA01015000;AC005562;AC011840;AMYH01008304;NG_000844 ALOX12P pseudo 431 INFERRED 1603209 ALKBH5 alkB, alkylation repair homolog 5 (E. coli) 17 17 17 p11.2 19028003 19054331 + 18027592 18053993 + 18086867 18113268 + 6480464 12477932;11997338;8889548;14702039;15489334;22318606;21264265;21139048;21890473;19322201;22113938;23251661;23177736 54890 K7ER58;Q6P6C2 ABBA01009738;AC087164;AC109515;AK000129;AK000315;AK025817;AK301107;AK311161;AK311511;AL137263;AMYH01008165;BC062339;BI823385;BU740432;CH471196;NM_017758 AAH62339;BAA91078;BAG62706;EAW55661;EAW55662;NP_060228;Q6P6C2 Hs.744130 1676238;1732125;2175916 D17S976;RH75515;STS-H01962 ABH5;FLJ20308;OFOXD;OFOXD1 OTTHUMP00000065701;RNA demethylase ALKBH5;alkylated DNA repair protein alkB homolog 5;alpha-ketoglutarate-dependent dioxygenase alkB homolog 5;oxoglutarate and iron-dependent oxygenase domain containing;probable alpha-ketoglutarate-dependent dioxygenase ABH5 protein-coding ENSG00000091542 25996 08621 613303 VALIDATED 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 17 17 17 p13 6821120 6829473 + 6697619 6744392 + 6756895 6803668 + 6480464 12477932;9691181;1570320 245 ABBA01054838;AC027763;AF020774;AF020775;AL832768;AMYH01008061;AMYH01008062;BC041851;NR_002710 Hs.378695 5022200;5037552 D8S2279;L18426 ALOX12E;MGC43625 pseudo 432 VALIDATED 1606431 ALMS1P Alstrom syndrome 1 pseudogene 2 2 2 p13.1 73722887 73763538 + 73721506 73766207 + 73872046 73912699 + 6480464 16344560;12477932;20383145;23535967 200420 Q96L16 ABBA01075584;AC092653;AK307160;AMYH01010438;AMYH01010439;BC014492;CH471053;DA427693;NR_003683 ABM83977;ABM87298;EAW99725;EAW99726;Q96L16 Hs.739204;Hs.745426 1696998;1765527;1796390;2170787 NAT8_959;RH101973;RH15629;SHGC-149003 ALMS1L pseudo ENSG00000163016 29586 11245 VALIDATED 736731 ALLC allantoicase Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008] 2 2 2 q35 3714865 3759339 + 3683661 3728136 + 3705786 3750261 + 1580863;6480464;6907045 16344560;15815621;15489334;12477932;12036579;11054555;23251661 55821 B4DY77;Q8N6M5 ABBA01006100;ABBA01006101;AC010907;AF215924;AF395820;AK302299;AMYH01010074;BC029652;BC035356;CH471053;DB054905;NM_018436 AAF67097;AAH29652;AAH35356;AAK72970;AAY24236;BAG63639;EAX01050;EAX01051;NP_060906;Q8N6M5 Hs.97899 1678415;2175340 D18S1347;RH98402 ALC OTTHUMP00000200095;allantoate amidinohydrolase;probable allantoicase APPROVED protein-coding ENSG00000151360 17377 10642 612396 VALIDATED 1345047 ALOX15P1 arachidonate 15-lipoxygenase pseudogene 1 17 17 17 6586307 6590535 + 6496500 6521525 + 6561038 6564701 + 11350124 100652883 ABBA01054837;AC004706;AMYH01008061;BG760841;DY655533;NR_045985 Hs.549540 ALOX15P APPROVED pseudo 13742 VALIDATED 4144232 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 9 9 9 q22.31 66099611 66125646 + 94697631 94723663 + 95675441 95683839 + 642959 ABBA01018599;AL389924;AMYH01021510;NG_028727 1751823 SHGC-105834 pseudo 39027 INFERRED 1313295 ALOX12B arachidonate 12-lipoxygenase, 12R type This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008] 17 17 p13.1 7916679 7931746 - 7975954 7991021 - 1580863;1578309;6480464;6484113;6907045;7240710 12432922 9618483;19372141;19131948;19064572;19023099;18347291;17975119;17436029;17139268;15629692;15489334;14702039;12664578;12477932;11773004;11368351;11350124;10727209;9837935;18086569;19423540;19558494;19890349;20406964;20438785;22441738;22622417;21821891;20301593 242 O75342 ABBA01054895;AC129492;AF038461;AF059250;AJ305026;AJ305027;AMYH01008088;BC041058;CH471108;NG_007099;NM_001139 AAC39770;AAC79680;AAH41058;CAC34520;EAW90095;NP_001130;O75342 Hs.136574 12R-LOX;ARCI2 12R-lipoxygenase;OTTHUMP00000135320;arachidonate 12-lipoxygenase, 12R-type;epidermis-type lipoxygenase 12 APPROVED protein-coding ENSG00000179477 430 04772 242100;603741 REVIEWED 1322469 ALOX12 arachidonate 12-lipoxygenase 17 17 p13.1 6840108 6854779 + 6899384 6914055 + 1578303;1580863;1578309;1578308;2313845;2313877;2313872;2313875;2315607;2315608;2315609;2315610;2315611;5509594;5509789;5509621;5509628;5509597;5509614;5509617;5509787;5509788;6480464;6907045 14669797;12432922;15896353;19103735;9500559;7511046;18640486;19282568;14532840;14767568;14654968;7624992;20978234;16445702;7679252;18780776;20554417;16118253;15518705;15623566;8304420 2217179;2377602;10727209;15105833;15305153;15111312;12858336;15010818;15107407;19328558;19046748;18992148;18755188;18676680;18547056;18504448;18187376;17893696;17520163;17460548;17379189;17236225;17192687;17151091;17045234;16788089;16638750;16598376;16514435;16482570;16118214;15797645;15729574;15489334;15308583;15142951;12907138;12731864;12664578;12664573;12664313;12538614;12477932;12394183;11914583;10760478;10446449;9082968;8912711;8641843;7868854;3926763;3406043;2244907;1570320;1447217;15474031;18086569;19170196;19423540;19469483;19625176;19663136;19692168;19885615;19948975;20061896;20089617;20181616;20406964;20431935;20438785;20453000;21127289;20382140;20653566;21094135;19913121;20592751;20626912;20628086;20697415;21085606;20570249;22924777;21225230;22275252;21945939;21104233;22237009;22089472;22384268;22323304;22668814;22825379;1851637;8250832;8319693;9751607;23578768;22980500;22864639 239 K7ENN9;P18054 ABBA01054844;ABBA01054845;AC040977;AF143883;AMYH01008064;AMYH01008065;AY527817;BC069557;CH471108;D12638;M35418;M58704;M62982;M87004;NM_000697;S68587;S68588 AAA51533;AAA51587;AAA59523;AAA60056;AAD14020;AAD14021;AAD32700;AAH69557;AAS00094;BAA02162;EAW90281;NP_000688;P18054 Hs.654431 1697340;1724417;1745453;1789727;1851250;2181972;2218986 ALOX12_4210;GDB:607713;RH102167;RH122370;SHGC-12725;WI-17813;csnpalox12-pcr1-1 12-LOX;12S-LOX;LOG12 12(S)-lipoxygenase;12S-lipoxygenase;OTTHUMP00000128281;arachidonate 12-lipoxygenase, 12S-type;platelet 12-LOX;platelet-type 12-lipoxygenase;platelet-type lipoxygenase 12 protein-coding ENSG00000108839 429 01066 152391 VALIDATED 1323128 ALMS1 Alstrom syndrome 1 This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.[provided by RefSeq, Mar 2009] 2 2 p13 73466394 73690554 + 73612886 73837046 + 1601169;1580863;1576431;6480464;7240710 11941369;15855349 22876109;19091203;18506366;17594715;16601972;15815621;15489334;14654843;14646408;12827243;12477932;12168954;11941370;10598815;9205841;9063741;12421765;19913121;20628086;11076968;12221128;12852856;16462731;19283855;20379614;20381594;20383146;7790358;20801516;20383145;20301444;20844083;21541333;22990118;18029348;21901789;21963094;22895009;21139048;21906983;21886157;21931564;22693585;22190034;22505724 7840 A6NMY3;B8ZZJ3;H7C1D9;Q8TCU4 AB002326;ABBA01075580;ABBA01075581;ABBA01075582;AC074008;AC092653;AC096546;AJ417593;AL832273;AL833495;AMYH01010436;AMYH01010437;AX751581;BC035025;BC050330;BX647706;BX648632;CH471053;EF151141;NG_011690;NM_015120 AAH35025;AAH50330;AAX82023;AAY24208;ABL96615;BAA20786;CAD10391;CAE11759;EAW99728;EAW99729;EAW99730;EAW99731;NP_055935;Q8TCU4 Hs.184720 1683697;1686712;1749491;1751141;1774323;1848694;2120518;2133151 D2S2065;D2S2608;D2S2696;RH12381;RH45615;RH98437;SHGC-105060;SHGC-111206 ALSS;DKFZp686A118;DKFZp686D1828;KIAA0328 Alstrom syndrome protein 1;OTTHUMP00000202344;OTTHUMP00000202401 APPROVED protein-coding ENSG00000116127 428 06023 203800;606844 REVIEWED 6777891 ALOXE3P1 arachidonate lipoxygenase 3 pseudogene 1 17 7974704 7975848 + 100420216 ABBA01054895;AC129492;AMYH01008088;NG_026215 1756139 SHGC-142949 pseudo 44238 INFERRED 1352372 ALOX15 arachidonate 15-lipoxygenase 17 17 p13.3 4480963 4491709 - 4534214 4544960 - 1580863;70288;5509611;5509618;5509620;5509625;5509626;5509605;5509607;5128564;5509623;5509627;5509595;5509622;1642301;5509597;5509598;5509608;5509610;5509613;5509615;5509784;5509599;6480464;6484113;6907045 8117750;17940120;15328042;15111312;19787041;19752233;19628725;18941242;7967345;20724598;19546247;20570249;20967760;16497176;20554417;20167207;18635843;18206890;17384141;15708862;18692885;19675173 19131661;19131063;19089921;19046748;18799463;18785202;18774388;18755188;18692814;18684974;18676680;18647347;18547056;18392641;18239141;18227726;18198215;18187376;18180398;18090132;18067895;17991885;17959182;17662651;17652958;17520163;17439326;17344094;17227895;17164146;17043146;16997127;16847316;16820097;16598376;16556493;16357157;16320347;16179498;16000313;15996861;15967444;15912043;15879104;15838625;15489334;15459485;15194425;14757756;14643174;12907138;12748293;12731864;12664628;12664577;12477932;12084190;11956198;11861792;11475334;11196700;11023533;10464294;9931410;9822675;9700053;9414270;9224951;7961680;3356688;3202520;2719708;2010530;1944593;1825526;1733732;1729692;3202857;10200270;19325142;19198625;22472308;1662607;1570320;1566855;21094135;22078795;17711445;19130894;19170196;19296842;19423540;19429775;19453261;19469483;19481615;19497113;19528634;19568414;19576981;19625176;19663136;19692168;19752603;19775287;19942621;19948975;20308035;20406964;20438785;18029348;20382140;20649594;20861348;19913121;20485444;20592751;20628086;20676957;20668019;22652554;23285160;23066085;21558275;21831839;21771656;21544861;22275252;22301860;22094113;21881028;22037943;22089472;22210710;22516296;22351111;22825379;23181793;22879973;22750246 246 B7ZA11;F5H0G8;I3L175;P16050 ABBA01054771;ABBA01054772;AC118754;AK290309;AK296792;AK296821;AK296904;AK312557;AK316126;AMYH01008040;AY505111;BC029032;CH471108;M23892;M95923;NM_001140;U63384;U88317 AAA35482;AAA36182;AAB49305;AAC52118;AAH29032;AAR84235;BAF82998;BAG35454;BAH12431;BAH12437;BAH12452;BAH14497;EAW90427;EAW90428;NP_001131;P16050 Hs.73809 1660751;2128006;2190225;2190227;5022651 ALOX15-A611G;ALOX15-F4-R4;D11S2921;SHGC-35280;STS-U88317 15-LOX-1;15-LOX2;15LOX-1 15-LOX;15-lipooxygenase-1;OTTHUMP00000115936;arachidonate 15-lipoxygenase;arachidonate omega-6 lipoxygenase protein-coding ENSG00000161905 433 01067 152392 VALIDATED 1343226 ALPK2 alpha-kinase 2 18 18 18 q21.31 52864790 53011746 - 54299459 54447169 - 56148479 56296189 - 6480464 14702039;10021370;21833088;22641666;19690890 115701 Q86TB3 ABBA01056149;ABBA01056150;ABBA01056151;ABBA01056152;ABBA01056153;AC104971;AC105105;AK092133;AK092194;AK125243;AL832018;AMYH01009026;AY044450;BX647446;BX647639;BX647796;CH471096;NM_052947 AAI72418;AAK95952;BAC03812;CAD89922;EAW63077;NP_443179;Q86TB3 Hs.628152 1644577;1655565;1679866;1783682;1851282 D18S881;G18021;RH99213;SHGC-145775;STS-R27572 FLJ34875;FLJ43253;HAK OTTHUMP00000163641;alpha-protein kinase 2;heart alpha-kinase;heart alpha-protein kinase protein-coding ENSG00000198796 20565 11019 VALIDATED 731629 ALOX15B arachidonate 15-lipoxygenase, type B This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 p13.1 7883083 7893177 + 7942358 7952452 + 1580863;1578310;6480464;6907045 12432923 11839751;9177185;19064572;18156936;17139268;16682954;16556493;15799828;15797645;15489334;15342556;15247906;12704195;12659684;12477932;11350124;10542053;2318885;20428779;19423540;19645454;19661680;20406964;20438785;20677014;20668019;21316676;22939629;22078795;21900394;21951814;22980500 247 I3L1D5;O15296 ABBA01054895;AC129492;AF149095;AF468051;AF468052;AF468053;AF468054;AJ305028;AJ305029;AJ305030;AJ305031;AK292779;AK298095;AK300554;AMYH01008087;BC033294;BC035217;BC063647;BP327830;CA307212;CA405703;CH471108;NG_029482;NM_001039130;NM_001039131;NM_001141;U78294 AAB61706;AAD37786;AAH35217;AAH63647;AAL76274;AAL76275;AAL76276;AAL76277;ABM82271;ABW03380;BAF85468;BAG60380;BAG62260;CAC34521;EAW90097;EAW90098;EAW90099;EAW90100;EAW90101;EAW90102;NP_001034219;NP_001034220;NP_001132;O15296 Hs.111256 1736949;1762115;1793342 D17S561;PMC21017P1;SHGC-146014 15-LOX-2 15-LOX-B;15-lipoxygenase 2;15S-lipoxygenase;OTTHUMP00000135321;arachidonate 15-lipoxygenase 2;arachidonate 15-lipoxygenase B;arachidonate 15-lipoxygenase type II;arachidonate 15-lipoxygenase, second type;arachidonate omega(6) lipoxygenase APPROVED protein-coding ENSG00000179593 434 04739 603697 REVIEWED 732775 ALOX5 arachidonate 5-lipoxygenase This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 q11.2 45189635 45261571 + 45869624 45941567 + 734559;1331525;734558;734557;1580863;1626154;1626153;1626152;1300048;1578311;632195;1626150;1626151;2313910;2317527;2317529;2317531;2317535;2317536;2317521;2317523;2317524;2317522;2317525;2317533;4890414;4890432;4890435;4890413;4890422;4890423;4890433;4890410;4890411;4890419;4890430;4890415;4890434;4890418;4890420;4890421;4890407;4890429;4890405;4890417;4890408;5147463;5147462;5147467;5147465;6480464;6907045;7240710 14702425;15118671;8647941;10369259;9445303;11832453;14769366;15107407;11468001;17182931;16331105;17517102;20011686;19884440;19816089;19194550;19194548;18507031;12481414;12163367;16024599;20204486;19580807;17118201;8111595;20231413;17394438;11035107;10984370;1386887;18204779;18174194;12773506;8621765;16364163;1886988;14726295;12490039;11865407;20128419;9109363;20067482;15894604;19033731;16677242;8879219;9642160;12911785 21224059;19224689;22363630;22616993;10514459;9435249;9150468;9079648;8585605;8268460;8245774;8125298;8066098;7929073;7624354;7556168;10051563;3422434;3134355;2565035;2251250;1939225;1540191;12354292;9639560;2829172;11297527;19423540;19258923;19247692;19233132;19214143;19134178;19131661;19130089;19083497;19075240;19053751;19022417;18996667;18992148;18991687;18978352;18976020;18927292;18843019;18842779;18678882;18676680;18571838;18525291;18421434;18421027;18398223;18369664;18366797;18339529;18295198;18280718;18218859;18180307;18179798;17924829;17909879;17894944;17825794;17521309;17500032;17467166;17460547;17434678;17373938;17373700;17236225;17115186;17080223;17072961;17703412;17616938;17018618;16924104;16919603;16899822;16750418;16733792;16698924;16672272;16537708;16531984;16495221;16413224;16402861;16361798;16293801;16275640;16165096;16135563;15933245;15923196;15848143;15661803;15616590;15308583;15301234;15280375;15219851;15010818;14767568;14749922;14532840;12907138;12893830;12859962;12751769;12751768;12751728;12730086;12695552;12664574;12629151;12525578;12477932;12234060;12140292;12111389;12107604;12021253;11844797;11796736;11471199;11462800;10779545;10673219;16385451;19170196;19390118;19446447;19450127;19473080;19497113;19524426;19578796;19625176;19692168;19717473;19724895;19807693;19851296;19888660;19919819;19948975;20110601;20126469;20173757;20198315;20388081;20406964;20453000;20503287;20438785;20139978;21233389;20382140;19913121;20592751;20628086;20677014;20682687;20372792;20549218;21098726;21403093;21314617;21482803;22433003;21200133;21296957;21605700;21540635;21723968;22282663;21883892;22690932;22253131;21729626;22293202;22050225;22516296;22739369;23351835;11785969;22825379;23079278;21832049;22808264;23179791 240 E5FPY8;P09917 AB208946;ABBA01050026;ABBA01050027;AK225603;AK315223;AL731567;AMYH01002299;AMYH01002300;AMYH01002301;AW403395;BC034464;BC040450;BC130332;BC132677;BC143985;BC143986;BM153780;BQ003253;CH471160;HM592258;HM592259;HM592260;HM592261;J03571;J03600;J04520;JQ728550;M38191;NG_011437;NM_000698;NM_001256153;NM_001256154 AAA36183;AAA59522;AAA63212;AAA65450;AAI30333;AAI32678;AAI43986;ADR30798;ADR30799;ADR30800;ADR30801;ADR83089;AFH78150;BAD92183;EAW86642;EAW86643;NP_000689;NP_001243082;NP_001243083;P09917 Hs.89499 1667193;1682027;1688642;1698404;2110253;2128207;2131506;2146763;2157950;2187215;5017485;5020274;5022615;5118686 ALOX5;ALOX5_4211;D10S1413;D11S2467;D11S3553;L18441;RH102744;RH17822;RH40180;RH79041;RH98891;SHGC-59903;SHGC-60141;WI-9162 5-LO;5-LOX;5LPG;LOG5;MGC163204 5-lipoxygenase;LOX-5;OTTHUMP00000019502;arachidonate 5-lipoxygenase;arachidonic 5-lipoxygenase alpha-10 isoform;arachidonic 5-lipoxygenase delta-10-13 isoform;arachidonic 5-lipoxygenase delta-13 isoform;arachidonic 5-lipoxygenase delta-p10 isoform;arachidonic acid 5-lipoxygenase;leukotriene A4 synthase APPROVED protein-coding ENSG00000012779 435 01065 152390;600807 REVIEWED 736460 ALOX5AP arachidonate 5-lipoxygenase-activating protein This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] 13 13 q12 30207669 30236556 + 31287615 31338565 + 1578317;1331525;1580863;632195;2313883;2313884;2313886;2313891;2313892;2313900;2313902;2313907;2311309;2313910;69749;2313931;2313895;2313903;2313905;2313913;2313888;734558;4890422;4890409;1626154;4890421;4890407;4890405;5147466;5147461;5147464;5147465;4890420;5147467;5147469;5147462;6480464;7240710 14770184;15118671;11468001;19596330;19596146;19373490;19046748;18977990;18945963;18843019;17922411;18506375;17517102;2300173;14733414;18959458;18591367;18258817;17379835;19288030;8647941;11035107;18547289;9445303;11865407;20128419;20067482;10527888;19364335;15784112;12911785;12490039;9642160;19749079;8879219 22051033;19233132;17600184;8245774;19417766;19361804;19336475;19166692;19131661;19130089;19126581;18775537;18398440;18398223;18374923;18369664;18366797;18323512;18318662;18084092;17655870;17627106;17505527;17460547;17387518;17304054;16939001;16778124;16282974;16144515;16127181;15886380;15876305;15861005;15731479;15640973;15593193;15489334;15057823;14749922;14702425;12629151;12571239;12477932;11090070;10036194;9435249;8777565;8703034;8440384;8071328;8049076;7938075;1857337;1673682;1588922;22074807;22726381;21227888;19423540;19450127;19524426;19622707;19729601;19948975;20014490;20194722;20357438;20369037;20376802;20379614;20406964;20438785;20485444;20592751;20810156;21199733;22849376;21675249;21153769;21816595;21893978;22206291;22129473;22537113 241 P20292 ABBA01035689;AK314143;AL512642;AMYH01005011;AY619687;BC018538;BG569867;BQ003388;CH471075;M60470;M63259;M63260;M63261;M63262;NG_011963;NM_001204406;NM_001629 AAA35845;AAH18538;AAT38104;ABM82573;ABM85762;EAX08467;NP_001191335;NP_001620;P20292 Hs.507658 1717711;1755397;1765595;2113416;2113470 D13S1772;D13S1800;RH121762;SHGC-142275;SHGC-149049 FLAP MK-886-binding protein;OTTHUMP00000018204;arachidonate 5-lipoxygenase activating protein;arachidonate 5-lipoxygenase-activating protein APPROVED protein-coding ENSG00000132965 436 04742 601367;603700 REVIEWED 737157 ALPI alkaline phosphatase, intestinal There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is upregulated during small intestinal epithelial cell differentiation. [provided by RefSeq, Jul 2008] 2 2 q37.1 233029077 233032986 + 233320833 233324742 + 1580863;1300048;6480464;6907045 2841341;18307834;18292227;17498884;16344560;15831710;15774940;15715171;15302935;15143152;12919939;12660142;12577238;12477932;12466148;12372831;11352565;9755994;8449034;8240697;7482591;3697102;3687940;3469665;3468508;3458202;3443302;1458595;1321014;17353931;17139249;19407215;20489044;22262031;19786094;19322201;22783049 248 F8WEQ0;P09923 AA190871;ABBA01002020;AC068134;AK313163;AMYH01011571;BC132678;CH471063;DA925041;J03930;M15694;M21499;M31008;NM_001631;Y00512 AAA51703;AAA51704;AAA98617;AAI32679;AAY24089;BAG35981;CAA68564;EAW70997;EAW70998;NP_001622;P09923 Hs.37009 1741471;2218212;5119713 ALPI_4039;GDB:180439;GDB:181233 IAP Kasahara isozyme;OTTHUMP00000164357;alkaline phosphatase 1, intestinal, defined by ssr;alkaline phosphomonoesterase;glycerophosphatase;intestinal alkaline phosphatase;intestinal-type alkaline phosphatase APPROVED protein-coding ENSG00000163295 437 01376 171740 REVIEWED 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 14016 1314765 ALOXE3 arachidonate lipoxygenase 3 This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 p13.1 7939943 7962532 - 7999218 8022234 - 1599073;1580863;6480464;7240710 11773004 19131948;19064572;17436029;17139268;17045234;16344560;15629692;15489334;14702039;12477932;11350124;19423540;19890349;20406964;20438785;20921226;20923767;22622417;21139048;20301593;21963094;23000965;12881489 59344 J3KPH2;Q9BYJ1 ABBA01054896;ABBA01054897;AC129492;AF182218;AJ269499;AJ305020;AJ305021;AJ305022;AJ305023;AJ305024;AJ305025;AK292732;AK296416;AK299742;AK313677;AMYH01008088;BC101938;BC101939;BC103508;BC104724;CH471108;DA183156;DC376381;NG_015807;NM_001165960;NM_021628 AAG16899;AAI01939;AAI01940;AAI03509;AAI04725;BAF85421;BAG36428;BAH12346;BAH13114;CAC12843;CAC34518;EAW90093;EAW90094;NP_001159432;NP_067641;Q9BYJ1 Hs.232770 1797276;2139449 ALOXE3_703.2;humtgkql ARCI3;E-LOX;MGC119694;MGC119695;MGC119696;eLOX3 OTTHUMP00000135319;e-LOX-3;epidermal lipoxygenase;epidermis-type lipoxygenase 3 APPROVED protein-coding ENSG00000179148 13743 06231 242100;606545;607206 REVIEWED 1351787 ALPK1 alpha-kinase 1 This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q25 110512576 110657856 + 113437948 113583223 + 113218499 113363774 + 1580863;6480464 16344560;15883161;15489334;15221005;14702039;12477932;12168954;10819331;10737800;10021370;20332099;21208416;22623531;21822924;21799462;22484627 80216 B3KUH8;B4E0R2;D6RB29;D6RDN6;Q96QP1 AB040960;AB075877;ABBA01063814;ABBA01063815;AC004049;AK026323;AK026715;AK091872;AK097246;AK131090;AK303489;AK304708;AMYH01014468;AY044164;BC028117;BC060780;BE155590;BX648798;CH471057;DB250317;NM_001102406;NM_001253884;NM_025144 AAK94675;BAA96051;BAB15444;BAC85140;BAD38659;BAG53440;BAG64524;BAG65473;EAX06274;EAX06275;EAX06276;NP_001095876;NP_001240813;NP_079420;Q96QP1 Hs.652825 1643694;1647667;1676059;1689063;1695060;1708878;2170760;5024039 D16S325;D4S807;G34085;RH93680;RH98332;SHGC-23848;SHGC-23924;SHGC-83938 8430410J10Rik;FLJ22670;KIAA1527;LAK OTTHUMP00000163832;OTTHUMP00000219656;alpha-protein kinase 1;chromosome 4 kinase;lymphocyte alpha-kinase;lymphocyte alpha-protein kinase APPROVED protein-coding ENSG00000073331 20917 09554 607347 VALIDATED 1344760 ALPK3 alpha-kinase 3 15 15 15 q25.2 61786084 61843035 + 83160915 83217714 + 85359911 85416713 + 1580863;6480464 14702039;12477932;11418590;10718198;10021370;22005931 57538 Q96L96 AB037751;ABBA01052949;ABBA01052950;AC012291;AC103741;AK022943;AK024829;AK026851;AK300484;AL109725;AL109780;AL365516;AL832372;AL833276;AL833288;AMYH01006872;AY044449;BC016870;BC040192;BC067284;CH471101;NM_020778 AAK95951;BAA92568;BAG62199;EAX01960;NP_065829;Q96L96 Hs.459183 1337137;1653156;1753893;1761463;2142948;2146209;2163347;2219928 A007D25;D15S653;MIDORI__6315;RH41993;SHGC-108121;SHGC-145472;STS-AA019539;WI-18039 FLJ12881;FLJ21176;KIAA1330;MAK;MIDORI OTTHUMP00000192892;alpha-protein kinase 3;muscle alpha-kinase;muscle alpha-protein kinase;myocyte induction differentiation originator protein-coding ENSG00000136383 17574 11365 VALIDATED 1314395 ALPP alkaline phosphatase, placental There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme, also referred to as the heat stable form, that is expressed primarily in the placenta although it is closely related to the intestinal form of the enzyme as well as to the placental-like form. The coding sequence for this form of alkaline phosphatase is unique in that the 3' untranslated region contains multiple copies of an Alu family repeat. In addition, this gene is polymorphic and three common alleles (type 1, type 2 and type 3) for this form of alkaline phosphatase have been well characterized. [provided by RefSeq, Jul 2008] 2 2 q37 232951592 232955843 + 233243348 233247599 + 1580863;6480464;6907045 21910833;3042787;12493773;18802949;18752324;18416535;16893177;16815919;16431676;16344560;16303743;15946677;15815621;15715171;15489334;14595869;12851398;12477932;12372831;12081485;11937510;11857742;11352565;11124260;6651840;3512548;3461452;3459156;3443302;3422741;3001717;2891112;2153284;1730777;1321014;11278620;12616539;11938765;19450995;19570815;19574883;2133555;19595020;20655896;20693656;20299338;20663553;21516013;17000644;22190034;18775313;20360068;21939286;2017684;21692598;21868091;22333159;15907827 250 P05187 ABBA01002021;AC068134;AF217992;AK075432;AK312931;AMYH01011570;BC009647;BC068501;BC094743;CH471063;DA851165;HC006778;M12551;M13077;M14169;M14170;M19159;M19161;NG_012189;NM_001632 AAA51705;AAA51706;AAA51708;AAA51709;AAA51710;AAC97139;AAH09647;AAH68501;AAH94743;AAY24087;BAG35774;CBH19195;EAW70991;NP_001623;P05187 Hs.284255 1740959;1741473;1742941;1795354;2120652;5119713 A002R47;ALPP_38;GDB:176648;GDB:180439;GDB:181234;GDB:216786 ALP;FLJ61142;PALP;PLAP;PLAP-1 OTTHUMP00000164354;PLAP-1;Regan isozyme;alkaline phosphatase Regan isozyme;alkaline phosphatase, placental (Regan isozyme);alkaline phosphatase, placental type;alkaline phosphomonoesterase;glycerophosphatase;placental alkaline phosphatase 1 APPROVED protein-coding ENSG00000163283 439 171800 REVIEWED 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 AB053316;NM_178231 14441 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 7240710 11706389 253 1334699;1336976 D18S1109;D18S846 444 1346147 ALPL alkaline phosphatase, liver/bone/kidney There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 1 1 p36.12 21708445 21777492 + 21835858 21904905 + 1599076;1580863;1601172;1601177;1601174;1601171;1601173;2315616;2315619;6480464;6907045;7240710 8406453;17010978;16197789;16249437;17403193;16336518;10547581;18288101 14517339;1409720;21713451;22569225;9020858;17023519;9781036;19500388;19453261;19423565;19419944;19303062;19084045;19012630;18940312;18769922;18724009;18665784;18605934;18579124;18523927;18500657;18496130;18469019;18455459;18422967;18158785;18037100;18029348;17922851;17719863;17563703;17516619;17395561;17253930;17242729;17229666;17195227;17043047;16932897;16893177;16681433;16602701;16583221;16344560;15824850;15694177;15660230;15629439;15562030;15489334;15476587;15248185;15230135;15208311;15135428;14756545;14702039;15146197;18572267;19335222;19631305;19641839;19729429;19751416;12920074;12815606;12788869;12638946;12477932;12412800;12397600;12372831;12357339;11999978;11855933;11834095;11810413;11760847;11745997;11528114;11479741;11438998;11073119;10865224;10834525;10737975;10690885;10679946;10508980;10332035;10094560;9844100;9823315;9814472;9747027;9192863;8954059;7833929;7509208;6933471;3954357;3532105;3446011;3410475;3174660;3165380;2928120;2346496;2220817;1458595;1321014;19860546;19751417;19856264;19884277;19888898;19931660;20048161;20231843;20379614;20175736;18328985;20355242;20558539;20345388;20634292;20809279;20924064;21179104;21191615;20828673;21168482;22702738;21402707;23039266;21419245;21558934;22228761;20977932;21289095;18160010;22703652;23328739;22154904;22994584;22300680;22024719;22395920;21886157;22001757;19874193;20301329;22167380;23223140;22211102;21956185;20888271;23124780;22672431;23509830 249 B1ANL0;Q5BKZ5 AB011406;AB012643;AB209814;ABBA01059818;ABBA01059819;ABBA01059820;ABBA01059821;ABBA01059822;AK097413;AK293184;AK295608;AK298085;AK312667;AL359815;AL592309;AMYH01000339;AMYH01000340;BC021289;BC066116;BC090861;BC110909;BC126165;BC136325;CH471134;CN425768;D87874;D87875;D87876;D87877;D87878;D87879;D87880;D87881;D87882;D87883;D87884;D87885;D87886;D87887;D87888;D87889;DA574668;DA625627;DA631560;M24428;M24439;NG_008940;NM_000478;NM_001127501;NM_001177520;X53750;X95994 AAB59378;AAH21289;AAH66116;AAH90861;AAI10910;AAI26166;AAI36326;ADR83041;BAA32129;BAA88367;BAD93051;BAG35549;BAH11467;BAH12123;BAH12722;EAW94974;EAW94975;EAW94976;EAW94977;NP_000469;NP_001120973;NP_001170991;P05186 Hs.75431 1660672;1691342;1741221;1744681;2159435;2174494;5014063 AL009634;D15S1390;GDB:178682;GDB:549217;RH93776;SHGC-74342;SHGC-74343 AP-TNAP;APTNAP;FLJ40094;FLJ93059;HOPS;MGC161443;MGC167935;TNAP;TNSALP OTTHUMP00000002971;OTTHUMP00000002972;alkaline phosphatase liver/bone/kidney isozyme;alkaline phosphatase, tissue-nonspecific isozyme;alkaline phosphomonoesterase;glycerophosphatase;liver/bone/kidney-type alkaline phosphatase;tissue-nonspecific ALP APPROVED protein-coding ENSG00000162551 438 01377 146300;171760;241500;241510 REVIEWED 1347925 ALPPL2 alkaline phosphatase, placental-like 2 There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008] 2 2 q37 232979796 232983668 + 233271552 233275424 + 1580863;6480464;6907045 2162249;17009260;16412386;16344560;15815621;15489334;12477932;12372831;11937510;11124260;10471145;9823315;7166303;6814793;6651840;3674755;3519002;3512548;3461452;3459156;3443302;3422741;3387245;3042787;3001717;2921344;2834730;2745460;2578098;2297757;2171580;2153284;2009524;1730777;1722150;1581814;20360068;21963094;23467613 251 P10696;Q9UIL6 AB012642;ABBA01002020;AC068134;AI982769;AK293017;AMYH01011570;AMYH01011571;BC014139;CH471063;CS223387;DB194270;J03252;J04948;M19160;NM_031313;X07247;X53279;X55958 AAA51700;AAA51707;AAA98616;AAH14139;AAY24088;BAA88366;BAF85706;CAA30232;CAA37374;CAA39425;CAJ46933;EAW70994;EAW70995;EAW70996;NP_112603;P10696 Hs.333509 1741473;1847238;5119713 D2S2633;GDB:180439;GDB:181234 ALPG;ALPPL;GCAP ALP-1;Nagao isozyme;OTTHUMP00000164356;PLAP-like;alkaline phosphatase Nagao isozyme;alkaline phosphatase, placental-like;germ cell alkaline phosphatase;placental alkaline phosphatase-like;placental-like alkaline phosphatase;testicular and thymus alkaline phosphatase APPROVED protein-coding ENSG00000163286 441 01380 171810 REVIEWED 1349713 ALS5 amyotrophic lateral sclerosis 5 7240710 255 446 1605837 ALS2CL ALS2 C-terminal like 3 3 3 p21.31 46648229 46672945 - 46685683 46710175 - 46710485 46735194 - 6480464 17239822;15388334;14702039;12477932;8889548;16344560;20657180;21906983;23425335 259173 F8WCP1;G3V0I7;G5E9N5;H7C0M4;Q8NAL7 AB107015;ABBA01024712;AC104304;AC134504;AF235535;AK074118;AK092455;AK093844;AK096091;AK097225;AK126505;AK131270;AK131273;AL832132;AL832203;AL833107;AMYH01013131;BC042906;BC061883;BC075825;BC109233;BU685010;CH471055;CR627258;DA242202;DB350037;NM_001190707;NM_147129;NM_182775;NR_033815 AAH42906;AAH61883;AAH75825;AAI09234;AAI56526;AAI72558;AAK13665;BAB84944;BAC03895;BAC04237;BAC86572;BAD18448;BAD18450;BAD51817;CAH10367;EAW64775;EAW64776;EAW64777;EAW64778;EAW64779;EAW64780;NP_001177636;NP_667340;NP_877576;Q60I27 Hs.517937 1681290;1763889;2124449 RH98898;SHGC-147558;STS-N49393 DKFZp686P238;MGC129698;RN49018 ALS2 C-terminal-like protein;OTTHUMP00000158857;OTTHUMP00000209941;OTTHUMP00000209946 protein-coding ENSG00000178038 20605 10643 612402 VALIDATED 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 2 2 2 q33.1 195904962 195973949 - 201861230 201924421 - 202153147 202222101 - 1580863;6480464 17474147;19692168;19773279;20379614;11586298;18649358;16189514;12477932;8889548;17207965;21048031;21983787 130540 C9JTY0;C9JZS0;H7C1T5;Q96Q35 AB053314;ABBA01062539;AC007256;AK124115;AK292283;AMYH01011403;BC031603;BX095441;CA314586;CH471063;NM_001127391;NM_139163 AAH31603;AAY24226;ADQ31789;BAB69022;BAF84972;EAW70267;EAW70268;EAW70269;EAW70270;NP_001120863;NP_631902;Q96Q35 Hs.107944 1700820;5123604 RH104035;RH16289 OTTHUMP00000163724;OTTHUMP00000163725;OTTHUMP00000206582;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein protein-coding ENSG00000155749 14439 12444 VALIDATED 1321241 ALS2 amyotrophic lateral sclerosis 2 (juvenile) The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 2 2 q33.1 202273522 202353983 - 202564986 202645895 - 1599080;1580863;6480464;6907045;7240710 11586297 15247254;16670179;12837691;16049005;11586298;17239822;16085057;15371724;19122027;19023603;18810511;18523452;17955197;17698795;16249884;15579468;15489334;15388334;15342556;14970233;14702039;14676054;14668431;12919135;12866199;12601111;12477932;12168954;12145748;12138710;11687798;10997877;9933298;9889004;8889548;15324660;20379614;23383273;21907703;21890473;20301421;20301623 57679 A8K4R4;B3KPJ0;H0Y696;J3KQ33;J3KQ43;Q96Q42 AB046783;AB053305;AB053306;ABBA01062545;AC007242;AC007279;AF391100;AK023024;AK056413;AK291029;AMYH01011404;BC029174;BC071576;BM560426;BM978733;BP348546;BU623061;CH471063;NG_008775;NM_001135745;NM_020919 AAH29174;AAH71576;AAL14103;AAX93181;AAY15058;BAB13389;BAB14362;BAB69014;BAB69015;BAF83718;BAG51702;EAW70291;EAW70292;EAW70293;NP_001129217;NP_065970;Q96Q42 Hs.471096;Hs.621812 1337671;1678379;1728835;1784008;1784312;2118911;2153186;2218988;5121733 ALS2__4284;D2S2309;G31879;G31881;G54487;RH12092;RH92914;SHGC-143239;SHGC-79895 ALS2CR6;ALSJ;FLJ31851;IAHSP;KIAA1563;MGC87187;PLSJ OTTHUMP00000205832;OTTHUMP00000206119;OTTHUMP00000206122;OTTHUMP00000224839;alsin;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein;amyotrophic lateral sclerosis 2 protein APPROVED protein-coding ENSG00000003393 443 05893 205100;606352;606353;607225 REVIEWED 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 2 2 2 q33.1 196104082 196235806 - 202060393 202192146 - 202352144 202483905 - 6480464 16189514;15815621;15489334;14702039;12477932;11586298;11827452 151254 Q53TS8 AB053313;ABBA01062542;ABBA01062543;ABBA01062544;ABBA01062545;AC007282;AI754862;AK058080;AK097651;AL833429;AMYH01011403;AMYH01011404;BC030659;BE502681;BG701187;BG773299;BX648732;CH471063;DB525255;NM_001168216;NM_001168217;NM_001168221;NM_152525 AAH30659;AAY14693;BAB69021;BAB71654;BAC05132;EAW70277;EAW70278;EAW70279;EAW70280;NP_001161688;NP_001161689;NP_001161693;NP_689738;Q53TS8 Hs.335788 1659200;1728801;2113920;2119307;2127186;2138973;2165543 AB070072;D2S2731;G54441;RH15616;RH17492;RH46527;STS-N48800 DKFZp686H0636;FLJ25351;FLJ40332 OTTHUMP00000163728;OTTHUMP00000206610;OTTHUMP00000206611;OTTHUMP00000206612;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein protein-coding ENSG00000155754 14438 08687 VALIDATED 1314457 ALS2CR16 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16 2 q33.2 203559078 203561222 + 14702039;12477932;11586298 130029 AB053318;AC010900;AK130065;BC132950;BC137214;CR597362;XM_001134431;XM_001134454 AAI32951;AAI37215;BAB69026;BAC85289;Q6ZP36;XP_001134431;XP_001134454 Hs.604686;Hs.648846 MGC164581 protein-coding 14443 10644 1352384 ALX3 ALX homeobox 3 This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108849991 108860317 - 110404520 110414845 - 110602997 110613322 - 1580863;6480464;7240710 19409524;22589738;16825292;15226305;12477932;11807986;7991607;20634891;22496059;22106187 257 O95076 ABBA01068385;AF008202;AF008203;AL160006;AMYH01000940;BC112007;BC113428;CH471122;NG_012039;NM_006492 AAD01417;AAD01418;AAI12008;AAI13429;EAW56430;NP_006483;O95076 Hs.669953 2123174 SHGC-75288 FND1;MGC138212;MGC141988 OTTHUMP00000013372;aristaless-like homeobox 3;homeobox protein aristaless-like 3;proline-rich transcription factor ALX3 APPROVED protein-coding 449 16190 136760;606014 REVIEWED 1320963 ALX4 ALX homeobox 4 This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009] 11 11 p11.2 44242734 44288292 - 44282278 44331716 - 1580863;6480464;7240710 11017806;11106354;11137991;19336475;17293876;16415175;16319823;15852040;14702039;11696550;11347906;9847249;8644736;16582099;19692347;19783719;8558565;20634891;20211142;20879858;20140221;20301307;20625746;22829454;22496059 60529 Q9H161 AB058691;ABBA01060770;AC103854;AF294629;AF308825;AJ279074;AJ404888;AK092346;AMYH01003522;AMYH01003523;CH471064;NG_015809;NM_021926 AAG23961;AAI66622;AAK38835;BAB47417;CAC15060;CAC15120;EAW68066;NP_068745;Q9H161 Hs.436055 2168987 D11S2375 FND2;FPP;KIAA1788;PFM;PFM1;PFM2 OTTHUMP00000233417;aristaless-like homeobox 4;homeobox protein aristaless-like 4;homeodomain transcription factor ALX4 APPROVED protein-coding ENSG00000052850 450 05661 605420;609597;613451 REVIEWED 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B 7240710 9012416 8044 455 601680 732877 ALX1 ALX homeobox 1 The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] 12 12 12 q21.31 85337491 85358941 + 84198167 84219693 + 85674036 85695562 + 734689;1580863;6480464;7240710 8673125 16189514;8756334;18029348;15489334;12929931;12477932;9847249;9753625;7690966;7592751;20932315;20451171;20398657;23288509 8092 Q15699 ABBA01053444;ABBA01053445;AC127069;AC131532;AC133794;AJ558236;AMYH01004636;BC010923;CH471054;NG_023202;NM_006982;U31986 AAB08960;AAH10923;CAD90155;EAW97398;NP_008913;Q15699 Hs.41683 2129799;2163608;2219046 CART1__4510;RH68918;STS-N20106 CART1;FND3 ALX homeobox protein 1;CART-1;OTTHUMP00000242207;cartilage paired-class homeoprotein 1 APPROVED protein-coding ENSG00000180318 1494 03316 601527;613456 REVIEWED 1343154 AMCN arthrogryposis multiplex congenita, neurogenic 7240710 9345093 261 456 7204927 AMD1P1 adenosylmethionine decarboxylase 1 pseudogene 1 10 p12.31 20638981 20640029 + 100133024 ABBA01034509;AL353790;AMYH01002164;NG_022164 1340630 D10S595 pseudo 44898 INFERRED 736409 AMBN ameloblastin (enamel matrix protein) This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] 4 4 q21 71492590 71507594 + 71457975 71473005 + 1580863;6480464 20854943;18781068;18353005;12477932;11330937;11054529;10946765;10634581;9126491;9032019;17331365;19661317;20043904;20831578;21149578;15342556;21761392 258 Q546D7;Q9NP70 ABBA01022930;ABBA01022931;AC134919;AF209780;AF219994;AF263464;AJ537437;AK314918;AMYH01014279;AY009116;AY009117;AY009118;AY009119;AY009120;AY009121;AY009122;AY009123;AY009124;BC106931;BC106932;BP248666;CH471057;NM_016519 AAF37355;AAF73048;AAG27036;AAG35772;AAI06932;AAI06933;BAG37429;CAD60938;EAX05623;EAX05624;NP_057603;Q9NP70 Hs.272396 2110255 AMBN_8200 OTTHUMP00000160362;OTTHUMP00000219136;ameloblastin APPROVED protein-coding ENSG00000178522 452 03160 601259 REVIEWED 735888 AMACR alpha-methylacyl-CoA racemase This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011] 5 5 p13 34023652 34043963 - 33987091 34008220 - 1580863;2315628;2315635;2315632;2315633;2315629;2315630;6480464;6907045;7240710 20003233;15941950;16315020;14707866;18648853;18343427 10770938;19605815;19148275;19068396;18835622;18788852;18785113;18712414;18676680;18665038;18577240;18537123;18500268;18279392;18080842;18032455;17684125;17683075;17680641;17525630;17222253;17067752;16681682;16506014;16491480;16424894;16381901;15941951;15880524;15489336;15330799;15323145;14960364;21457159;14702039;14612535;12810662;12673556;12477932;12438241;12374981;12213712;12131161;11956072;11926890;11076863;11060344;10655068;9307041;8125298;7649182;22782380;21176184;16756494;20636793;19638170;16344560;19064571;19170196;19384190;19459159;19625176;19692168;22078291;22248277;20102405;20503447;20877624;20945498;21195844;20664974;20875727;20178365;22542076;22593005;21441411;20189848;21963094;23000965;22507319 23600 D6RB81;Q9Y3Q1 AA969512;ABBA01066761;AC139783;AF047020;AF158378;AJ130733;AK000912;AK022765;AK222831;AK225749;AK292988;AL545355;AL571115;AMYH01015008;AY330488;AY330489;AY935981;BC009471;BG708726;BI550368;BQ941482;BT007193;CH471118;DA156454;EF560721;FJ498906;FJ498907;FJ498908;NG_016211;NM_001167595;NM_014324;NM_203382 AAD10205;AAF22610;AAH09471;AAP35857;AAQ67234;AAQ94259;AAY16192;ABQ59031;ACL67853;ACL67854;ACL67855;BAD96551;BAF85677;BAG50838;BAG51110;CAB44062;CAL37503;EAX10815;EAX10816;EAX10817;EAX10818;NP_001161067;NP_055139;NP_976316;Q9UHK6 Hs.508343 2116940;2137405;2217006 AMACR_3561;RH45195;WI-16117 AMACRD;CBAS4;RACE;RM 2-methylacyl-CoA racemase;OTTHUMP00000115916;OTTHUMP00000115917;OTTHUMP00000219978;OTTHUMP00000219979;OTTHUMP00000219980;alpha-methylacyl-CoA racemase APPROVED protein-coding ENSG00000242110 451 05134 214950;604489;614307 REVIEWED 1347122 AMDM acromesomelic dysplasia, Maroteaux type 7240710 9634515 264 459 602875 735479 AMBP alpha-1-microglobulin/bikunin precursor This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008] 9 9 q32-q33 115862228 115880536 - 116822407 116840752 - 1580863;6480464;6904148;6904149;6904147;6904155;6904143;6904156;6904142;6904219;6904218 15710155;14621078;16622176;14592616;17765145;19205372;18046670;15533056;8963945 20602574;11877257;12817471;14516400;11883904;9570066;10097787;14718574;18649735;18226914;17998887;17766242;17633530;17584166;17320766;17146627;17115277;17087727;16916777;16407257;16140784;15653696;15498571;15489334;15452109;15037615;14597629;12477932;11807786;11058759;11036097;10878892;10727951;10631976;10447938;9671439;9566199;9472382;9183005;7682553;7535251;7533162;7528952;7513643;7506257;6198962;6196366;6171497;6164372;3890890;3663330;2482577;2472935;2465147;2430261;2428011;2419908;2413856;2408638;1898736;1714898;1708673;1700638;1696200;1694784;1385302;72071;7519849;1697852;20954860;18448433;19636634;19914646;19879940;16712791;17207965;21067798;19913121;20628086;21332340;22595828;22096585;18624398;21988832;23324582;22684072 259 B7Z8R6;P02760 ABBA01042678;AK290837;AK303795;AK310776;AK310791;AL137850;AMYH01021671;AY544123;BC041593;CB141734;CH471090;CS208015;HB867200;M11562;M88249;NM_001633;X04225;X04494;X53686;X54816;X54817;X54818 AAA59194;AAA59196;AAH41593;AAT11154;ADQ32920;BAF83526;BAH14052;CAA27803;CAA28182;CAA37726;CAA38585;CAA38586;CAA38587;CAJ44933;CBF57586;EAW87404;NP_001624;P02760 Hs.436911 1660986;2190831 AMBP;STS-M88249 A1M;EDC1;HCP;HI30;IATIL;ITI;ITIL;ITILC;UTI OTTHUMP00000021967;alpha 1 microglobulin/bikunin;alpha-1-microglobulin/bikunin;bikunin;complex-forming glycoprotein heterogeneous in charge;growth-inhibiting protein 19;inter-alpha-trypsin inhibitor light chain;protein AMBP;protein HC;trypstatin;uristatin;uronic-acid-rich protein APPROVED protein-coding ENSG00000106927 453 01467 176870 REVIEWED 1350121 AMDP1 adenosylmethionine decarboxylase pseudogene 1 X X X;Y q28 and Yq12 155214191 155215759 - 154710950 154712518 - 59160762 59162330 - 7789170 263 ABBA01028631;AJ271735;AMYH01023345;NG_001073;U02035 1702412 GDB:192496 AMD;AMD2;AMDPX;AMDPY pseudo 460 INFERRED 1603049 AMDHD2 amidohydrolase domain containing 2 16 16 16 p13.3 2785299 2795891 + 2510428 2519733 + 2570363 2580955 + 6480464;6907045 15146197;12477932;10810093;21139048;21906983 51005 H3BSD5;H3BSV9;H3BT49;H3BTE3;H3BTZ6;Q9Y303 AB209351;ABBA01030250;ABBA01030251;AC093525;AF132948;AK296877;AK300747;AMYH01007059;BC018734;CH471112;CN362870;HB969100;HD026510;NM_001145815;NM_015944 AAD27723;AAH18734;BAD92588;BAG59439;BAG62416;CBG19170;CBV32525;EAW85498;EAW85499;EAW85500;NP_001139287;NP_057028;Q9Y303 Hs.740430 1850979;1854241;2166956;5020988;5022578;5022651 D11S2921;D1S1423;D22S958;RH66735;SHGC-61364;STS-AA004808 CGI-14 OTTHUMP00000159090;amidohydrolase domain-containing protein 2;glcNAc 6-P deacetylase;putative N-acetylglucosamine-6-phosphate deacetylase protein-coding ENSG00000162066 24262 13034 VALIDATED 1604349 AMBRA1 autophagy/beclin-1 regulator 1 11 11 11 p11.2 46566035 46760894 - 46374541 46569490 - 46417962 46615619 - 6480464 17589504;17622796;17603510;14702039;12477932;12107410;11214970;21145461;16949367;19615732;20694011;20562859;20921139;21358617;23524951;16196087;21753002;20360068;21987572;12938929;21139048;21890473;21906983;21963094;16344560;19295130;22190034;22505724;22797925;22053931;22441670;23000965 55626 E9PL55;H0YE34;Q9C0C7 AB051523;ABBA01060737;ABBA01060738;ABBA01060739;ABBA01060740;ABBA01060741;ABBA01060742;ABBA01060743;ABBA01060744;ABBA01060745;ABBA01060746;AC024293;AC115097;AC116021;AC127035;AK000301;AK023197;AK057896;AK302808;AK304530;AL137611;AL834190;AMYH01003534;AMYH01003535;AMYH01003536;BC045609;BF589843;CA389399;CH471064;DB070055;DB232750;DQ870924;NM_001267782;NM_001267783;NM_017749 AAH45609;ABI74670;BAA91067;BAB14457;BAB21827;BAG64009;BAG65331;EAW67996;EAW67997;EAW67998;EAW67999;EAW68000;EAW68001;EAW68002;NP_001254711;NP_001254712;NP_060219;Q9C0C7 Hs.654644 1655402;1655404;1666386;1677340;1683882;1705770;1726737;1731535;2110977;2127503;2147119;5022200 A001T07;D11S1252;D11S1271E;G19616;G30960;G62756;L18426;RH28603;RH28670;RH48957;SHGC-78672;WI-14603 DCAF3;FLJ20294;KIAA1736;MGC33725;WDR94 DDB1 and CUL4 associated factor 3;OTTHUMP00000233089;OTTHUMP00000233090;OTTHUMP00000233091;OTTHUMP00000233092;OTTHUMP00000233133;WD repeat domain 94;activating molecule in BECN1-regulated autophagy protein 1;activating molecule in beclin-1-regulated autophagy protein-coding ENSG00000110497 25990 10975 611359 VALIDATED 1322669 ALYREF Aly/REF export factor The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008] 17 17 q25.3 77439016 77442758 - 79845711 79849462 - 1580863;6480464 15047853;12226669;21145461;19165146;18562279;18243119;17229714;15998806;15782174;15489334;12944400;12477932;12438613;12176931;11991638;11979277;11707413;11675789;11546873;11118221;11032328;10488337;9952027;9731529;9119228;14667819;15833825;17190602;17196963;17643375;18029348;18974867;19110458;19264631;19369354;19553338;19710015;20015986;20431927;21329510;20981025;22939629;22990118;16196087;20000738;20360068;23242234;22178446;19738201;21282530;21963094;22053931;22623428;23000965;23084401;23151878;23222130;21139048;21890473;21906983;21907836;22145905;17620599;22446626;22586326;19322201;21628590;17609285;19586903;21799930;22505724;22761374;22952844 10189 E9PB61;Q86V81 ABBA01019651;AC137723;AC145207;AF047002;AF086513;AMYH01008722;BC052302;BU624466;CH471099;NM_005782 AAD09608;AAH52302;ACE86440;ACE87115;EAW89699;NP_005773;Q86V81 Hs.534385 1796770;2107829;2136473;2137863;2147142;2147438;2220396 ALY_7964;D17S723;RH44900;RH65274;RH65676;SIRT7_1731;UniSTS:481341 ALY;ALY/REF;BEF;REF;THOC4 Aly/REF export factor;OTTHUMP00000218275;THO complex 4;THO complex subunit 4;ally of AML-1 and LEF-1;bZIP enhancing factor;bZIP-enhancing factor BEF;tho4;transcriptional coactivator Aly/REF APPROVED protein-coding ENSG00000183684 19071 09168 604171 REVIEWED 1351440 AMD1 adenosylmethionine decarboxylase 1 This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Two alternatively spliced transcript variants that encode different proteins have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y.[provided by RefSeq, Jul 2010] 6 6 q21 111302680 111323606 + 111195987 111216913 + 1578320;1580863;6480464;6907045;7242911;7242912;7242932;7242425;7244193 10430362;10712236;1415709;2292587;23073625;13678416 1917972;2460457;19053272;18548481;17259861;17069747;16344560;15521072;15489334;14718534;14574404;12600205;12477932;11583148;11583147;10574985;10378277;10029540;8353934;7789170;7634128;2687270;1527020;1400498;16941339;19161160;19527050;19661236;20615890;20215859;21134486;22008221;21139048;21890473;21906983;19322201;22496743 262 A6NNH3;B4DZ60;P17707;Q5VXN5 ABBA01026103;ABBA01026104;AJ420527;AJ420567;AK026205;AK125644;AK130474;AK300330;AK302761;AK304351;AK316471;AL357515;AL365206;AL832698;AMYH01016591;AU134914;BC000171;BC041345;BX640599;CH471051;M21154;M88003;M88004;M88005;M88006;NM_001033059;NM_001634;S47803 AAA51716;AAD14903;AAH00171;ABM85036;BAG62078;BAG63972;BAG65194;BAH14842;CAE45705;CAI46113;EAW48307;EAW48308;EAW48309;NP_001028231;NP_001625;P17707 Hs.159118 1687103;1702412;2150560;2157342;2166495;2187495;5016903;5037552;5109281 D1S1425;D6S2429;D8S2279;GDB:192496;RH46508;RH46760;RH46841;RH98425;SGC30337 ADOMETDC;AMD;DKFZp313L1234;FLJ26964;SAMDC OTTHUMP00000017012;OTTHUMP00000017013;OTTHUMP00000017014;S-adenosylmethionine decarboxylase 1;S-adenosylmethionine decarboxylase proenzyme APPROVED protein-coding ENSG00000123505 457 01622 180980 REVIEWED 1606716 AMER1 APC membrane recruitment protein 1 The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010] X X q11.2 63321722 63342349 - 63404997 63425624 - 6480464 17204608;19322201;20128690;19416806;19351817;19137020;19079258;18720004;18460646;18452086;18391980;18311776;18021721;17620295;17510365;16344560;15772651;14702039;20696052;20679664;20956941;11807859;17925383;19760609;19757195;20209645;21304492;21498506;22716240;23000965;23333300;22285752;22215675;21139048;20843316;22800892 139285 Q5JTC6 ABBA01066875;ABBA01066876;ABBA01066877;AK097146;AL355852;AL833759;AMYH01022493;CH471132;DA939151;EF186024;NG_021345;NM_152424 ABM60755;BAC04964;EAX05415;NP_689637;Q5JTC6 Hs.314225 1765253 SHGC-148743 FAM123B;FLJ39827;OSCS;RP11-403E24.2;WTX APC membrane recruitment protein 1;OTTHUMP00000196469;Wilms tumor gene on the X chromosome protein;Wilms tumor on the X;adenomatous polyposis coli membrane recruitment 1;family with sequence similarity 123B;protein FAM123B APPROVED protein-coding ENSG00000184675 26837 06565 300647 REVIEWED 1343944 AMELY amelogenin, Y-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] Y Y Y p11.2 2473979 2482088 + 6793959 6802068 - 6733959 6742068 - 1580863 18029348;18067069;17588179;17189292;15489334;12815422;12477932;2737677;2037302;2004775;1734713;22669323 266 J3KPK5;Q99218 ABBA01034871;AC013412;AY487421;BC069138;BC074976;BC074977;CH471163;M55419;M86933;NG_008011;NM_001143;X14439 AAA51718;AAA62827;AAH69138;AAH74976;AAH74977;AAR39431;CAA32612;EAW59129;NP_001134;Q99218 Hs.1238 1728909;1744873;1776961;1797068;2128593;2144780;5017959;5022816;5095104;5095106;5095108;5095110;5095112 AMELX;AMELY-1;AMELY-2;AMELY-3;AMELY-4;AMELY-5;AMELY-6-1;AMELY-6-2;G38362;G42692;GDB:574132;SHGC-36989;SHGC-5464 AMGL;AMGY OTTHUMP00000033222;OTTHUMP00000039060;amelogenin (Y chromosome);amelogenin, Y isoform APPROVED protein-coding ENSG00000099721 462 02462 410000 REVIEWED 735379 AMELX amelogenin, X-linked This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X p22.31-p22.1 11221454 11228802 + 11311533 11318881 + 1300370;1599092;1300281;6480464;7240710 8406474;15721149;11406633 1734713;19083859;19025992;18781068;18714142;18701806;18434575;18067069;18042988;17688372;17645864;15772651;15489334;15111628;12613657;12477932;11922869;11922868;11877393;11852235;11839357;9041053;16674683;18029348;8254123;8118759;7782077;2737677;2059881;2004775;2509010;1483698;1916828;21514271;19966041;20012165;19913121;20628086;20929860;23525533;21081224;21114591 265 Q99217 ABBA01070900;ABBA01070901;AC002366;AF436849;AMYH01022078;AY040206;BC069118;BC074951;CH471074;M55418;M86932;NG_012040;NG_012494;NM_001142;NM_182680;NM_182681;S67147;X14440 AAA51717;AAA62826;AAB29184;AAC21581;AAH69118;AAH74951;AAK77213;AAL30432;CAA32613;EAW98792;EAW98793;EAW98794;NP_001133;NP_872621;NP_872622;Q99217 Hs.654436 1679774;1702906;1728909;1743711;1744867;1744869;1744873;1744877;1744879;1769050;1797068 AMELX;G42692;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH46956;RH79902 AI1E;AIH1;ALGN;AMG;AMGL;AMGX OTTHUMP00000022906;OTTHUMP00000022907;amelogenesis imperfecta 1;amelogenin (X chromosome, amelogenesis imperfecta 1);amelogenin (amelogenesis imperfecta 1, X-linked);amelogenin, X isoform APPROVED protein-coding ENSG00000125363 461 02313 300391;301200 REVIEWED 1603900 AMDHD1 amidohydrolase domain containing 1 12 12 12 q23.1 96005967 96028689 + 94861202 94886500 + 96337071 96362370 + 6480464;6907045 15221005;15489334;14702039;12477932;20379614;21906983 144193 B3KVC5;H0YI62;Q96NU7 AB075878;ABBA01053320;AC126174;AK054617;AK122802;AK290828;AL833144;AMYH01004677;BC029146;CH471054;NM_152435 AAH29146;ADZ15926;BAB70775;BAD38660;BAF83517;BAG53737;EAW97552;EAW97553;NP_689648;Q96NU7 Hs.424907 2109511 MGC35366__7713 HMFT1272;MGC35366 OTTHUMP00000243559;amidohydrolase domain-containing protein 1;probable imidazolonepropionase protein-coding ENSG00000139344 28577 14605 VALIDATED 736161 AMH anti-Mullerian hormone Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008] 19 19 p13.3 2200113 2203072 + 2249113 2252072 + 1601182;1601180;1601181;1601183;1580863;2315637;2315638;2315652;2315639;6480464;6907045;7240710 17109858;1483695;17224152;17217166;19820206;19424576;16533786;19359032 16213847;3754790;14750901;12834017;19539910;19342396;19217095;19064572;19056816;18930199;18854109;18784351;18697861;18593767;18555223;18381582;18328480;18321493;18310677;18291376;18249391;18249372;18230658;18191888;17926161;17636279;17628551;17624337;17603052;17559842;17543956;17488788;17485437;17462637;17425826;17337470;17335955;17088539;16923748;16816803;16740653;16566934;16368745;21457958;21481373;21497340;21514585;21514928;21529798;16159935;16030171;15897891;15550498;15536161;15217995;15070957;15057824;14742691;14715867;14671316;14671196;12571168;12477932;12477536;12462075;12456604;11773638;11760020;11420127;9713320;8895659;8889695;8755541;8596488;8162013;3028714;2467567;2325025;2023927;1750488;21177311;21227943;22429116;18930217;19345350;19361798;19409547;19539911;19730683;19755162;19800062;19940443;20150576;20236105;20734064;20864412;20155783;20309569;20207725;20060112;20064870;20861221;20801125;20719830;20797901;20797903;20843948;21341396;20809108;14695376;21114374;22552379;22673409;22771030;21168856;21227938;21300348;21315333;21315336;21704216;21724534;22901847;22921911;21451424;21486417;22563903;21285453;21719005;22244782;21576079;22674205;22693172;21789206;22442264;22049172;22154766;22188863;23408576;17951406;22038452;21784736;22545082;22420235;22401810;22405597;22355044;23002694;23394782;23433830;23509105;23533225;23533229;23541317;21988832;22910001;23051961;22821432;23419927;22984527;23390860;21882017;23044647 268 K7EJU5;P03971 ABBA01002714;AC005263;AI791949;AMYH01009278;BC033218;BC049194;CH471139;K03474;NG_012190;NM_000479 AAA98805;AAC25614;AAH49194;EAW69397;NP_000470;P03971 Hs.112432 1795218;2131407;5125939 AMH;AMH_42;RH71348 MIF;MIS Mullerian inhibiting factor;Mullerian inhibiting substance;anti-Muellerian hormone;muellerian-inhibiting factor;muellerian-inhibiting substance APPROVED protein-coding ENSG00000104899 464 02979 261550;600957 REVIEWED 1601927 AMER3 APC membrane recruitment protein 3 2 2 2 q21.1 125047974 125060604 - 131229547 131242177 + 131513077 131525707 + 6480464 16344560;14702039;12477932;20843316 205147 C9J4B8;C9JS07;Q8N944 ABBA01019373;AC010984;AC140481;AK095696;AK289525;AK291424;AMYH01011081;BC025667;BC113445;BC113447;BC143806;CH471250;DA102742;DA318919;DA401709;DA500900;DA773233;NM_001105193;NM_001105194;NM_001105195;NM_152698 AAI13446;AAI13448;AAI43807;AAY24355;ADR83424;BAC04612;BAF82214;BAF84113;EAW51273;NP_001098663;NP_001098664;NP_001098665;NP_689911;Q8N944 Hs.369289 1689632;1740101;2120205;2162449 D2S2134;D2S2700;RH91129;WI-12461 FAM123C;FLJ38377 APC membrane recruitment protein 3;OTTHUMP00000162406;OTTHUMP00000204983;OTTHUMP00000204984;family with sequence similarity 123C;hypothetical protein LOC205147;protein FAM123C APPROVED protein-coding ENSG00000178171 26771 08241 VALIDATED 1604720 AMER2 APC membrane recruitment protein 2 13 13 13 q12.13 6806916 6810113 - 24640660 24643857 - 25742660 25745857 - 6480464 15489334;15345747;15057823;14702039;12477932;8889548;22949735;22128170;22898821;20843316 219287 Q8N785;Q8N7J2 ABBA01007899;AK055049;AK098343;AK098796;AL359757;AL832627;AMYH01004978;BC032653;BC041392;BM680074;CH471075;NM_152704;NM_199138 AAH32653;AAH41392;BAB70845;BAC05288;BAC05414;EAX08363;EAX08364;NP_689917;NP_954589;Q8N7J2 Hs.528335 1656057;1694682;1704700;1722453;1738369;1738371;1846574;1847167 D13S504E;D13S505E;G43527;G60154;RH15722;SHGC-79006;STS-H92893;STS-R17761 FAM123A;FLJ25477 APC membrane recruitment protein 2;OTTHUMP00000018143;OTTHUMP00000222591;family with sequence similarity 123A;hypothetical protein LOC219287;protein FAM123A APPROVED protein-coding ENSG00000165566 26360 08067 614659 VALIDATED 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 7240710 9382098 9163 466 601626 6481065 AMMECR1-IT1 AMMECR1 intronic transcript 1 (non-protein coding) 100874352 AL031319 miscrna 41306 733276 AMHR2 anti-Mullerian hormone receptor, type II This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009] 12 12 q13 52103908 52111579 + 53817639 53825318 + 1580863;704409;70669;2315638;2315651;6480464;6907045;7240710 11125071;8119126;19424576;17988723 14750901;7493017;12462075;12834017;19539910;19064572;18697861;18310289;18230658;17636279;17337470;15489334;12477932;12477536;11588147;11549681;11420127;10874041;10589763;8940028;8889695;8872466;8572466;7488027;16344560;19457927;20236105;20362961;20861221;20734064;20864412;15717329;22584735;22962306 269 H3BPI9;Q16671 ABBA01008337;AC068889;AF172932;AJ572328;AK313593;AMYH01004480;AY714878;BC126316;BC136356;CH471054;CR627318;DB020573;NG_015981;NM_001164690;NM_001164691;NM_020547;U29700;X89013;X91156;X91157;X91158;X91159;X91160;X91161;X91162;X91163;X91164;X91165;X91166 AAC50328;AAD48497;AAI26317;AAI36357;AAU21221;ADR83081;CAA61418;CAA62593;EAW96701;NP_001158162;NP_001158163;NP_065434;Q16671 Hs.659889 1747699;1747701;2144914 G64261;G64262;STS-U29700 AMHR;MISR2;MISRII;MRII AMH type II receptor;MIS type II receptor;MRII;Muellerian inhibiting substance type II receptor;Mullerian inhibiting substance type II receptor;OTTHUMP00000242707;OTTHUMP00000242708;OTTHUMP00000242709;anti-Muellerian hormone type II receptor;anti-Muellerian hormone type-2 receptor;anti-mullerian hormone type 2 receptor APPROVED protein-coding ENSG00000135409 465 02978 261550;600956 REVIEWED 1323068 AMFR autocrine motility factor receptor, E3 ubiquitin protein ligase This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012] 16 16 q21 54952865 55016945 - 56395364 56459450 - 1580863;6480464;6907045 11724934;16168377;17681147;1649192;10456327;17043353;17157811;17310145;19560420;19103148;18037895;17872946;17265125;17071500;16979136;16563432;16407162;16186510;16184720;15489334;15331598;15303277;14702039;12962414;12670940;12477932;12067203;11902125;8889549;7626106;18835813;12847084;17353931;18216283;21343306;16275660;19661182;19828134;19835843;19864457;20089858;19549727;19690564;20504226;22990118;22812524;16196087;20126661;21832065;22266900;21139048;21906983;18775313;19815544;21209460;21900206;21965653;21987572;22101235;22118674;22143767;17502376;22328510;20574759;16968747;19322201;21636303;16987818;17311810;18502753;19223579;21914798 267 H3BQM3;H3BRK9;H3BSK3;Q9UKV5;R4GNG2 AA767223;ABBA01025242;ABBA01025243;ABBA01025244;AC009102;AC092140;AF124145;AK023874;AMYH01007689;AMYH01007690;BC017043;BC051032;BC056869;BC069197;BX345849;BX409690;CA748782;CQ834404;L35233;M63175;NM_001144;W60999 AAA36671;AAA79362;AAD56722;AAH17043;AAH56869;AAH69197;CAH05417;NP_001135;Q9UKV5 Hs.295137 1665663;1716435;1855805;2157656;2176791;5100562 D7S2301E;RH121398;RH70754;SHGC-60751;SHGC-60972;SHGC-61049 GP78;RNF45 AMF receptor, isoform 1;AMF receptor, isoform 2;E3 ubiquitin-protein ligase AMFR;OTTHUMP00000164316;RING finger protein 45;autocrine motility factor receptor;autocrine motility factor receptor, isoform 1;autocrine motility factor receptor, isoform 2 APPROVED protein-coding ENSG00000159461 463 09130 603243 REVIEWED 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 11 11 11 q23.3 115222323 115253688 - 117569652 117601019 - 118064442 118095809 - 6480464 15800062;19064666;16344560;15340161;14702039;12975309;12869515;12477932;10737800;20379614 120425 B3KUI3;E9PJJ4;E9PKK2;E9PLF9;E9PNS8;E9PR26;Q496M1;Q86YT9 ABBA01039714;AJ515553;AK057590;AK090409;AK094399;AK097285;AK298722;AK300851;AK301099;AMYH01004067;AP002800;AW804077;AY093686;AY093687;AY138965;AY358362;BC100794;BC100795;BC100796;BC100797;CH471065;DA090367;DC296115;EF444945;JA738745;JA738747;NM_001098526;NM_153206 AAI00795;AAI00796;AAI00797;AAI00798;AAM15730;AAM15731;AAN52117;AAQ88728;ACA05929;ACA05930;BAC03390;BAC04347;BAG53445;BAG60876;BAG62502;BAG62698;CAD56620;CCF77025;CCF77026;EAW67354;EAW67355;NP_001091996;NP_694938;Q86YT9 Hs.16291 1721413;1739599;2152582;2163481;2218214 AMICA__4295;D11S4050E;G59558;RH47232;STS-T86918 AMICA;CREA7-1;CREA7-4;FLJ37080;Gm638;JAML;MGC118814;MGC118815 OTTHUMP00000234548;OTTHUMP00000234549;OTTHUMP00000234550;OTTHUMP00000234551;OTTHUMP00000234707;adhesion molecule AMICA;adhesion molecule interacting with CXADR antigen 1;adhesion molecule that interacts with CXADR antigen 1;dendritic cell-specific protein CREA7-1;dendritic-cell specific protein CREA7-1;dendritic-cell specific protein CREA7-4;junctional adhesion molecule;junctional adhesion molecule-like protein-coding ENSG00000160593 19084 16482 609770 VALIDATED 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 1 1 1 p13.3 108318787 108321677 - 109850969 109853859 - 110049446 110052336 - 6480464 20383146;12629050;16710414;15489334;12477932;10574461;17207965 57463 Q86WK6 AB032989;ABBA01068378;AK295678;AL355145;AMYH01000933;AY237007;BC040879;CH471122;DC317707;NM_020703 AAH40879;AAO48948;ACE86637;ACE87319;ADQ33120;BAA86477;BAG58535;EAW56391;NP_065754;Q86WK6 Hs.726479 1687005;2134085;2163510 RH26161;SHGC-75264;WI-12158 AMIGO;AMIGO-1 OTTHUMP00000013378;OTTHUMP00000013379;alivin-2;amphoterin-induced gene and ORF;amphoterin-induced protein 1 protein-coding ENSG00000181754 20824 11129 VALIDATED 5130582 AMMECR1LP1 AMMECR1-like pseudogene 1 13 13 78073329 78074190 + 97225896 97226757 + 100420921 ABBA01027168;AL356098;AMYH01005311;NG_024945 1703282 SHGC-68276 APPROVED pseudo 39809 INFERRED 736884 AMIGO2 adhesion molecule with Ig-like domain 2 12 12 12 q13.11 46266530 46270780 - 45755757 45759915 - 47469490 47473734 - 6480464 12629050;12843293;15489334;15146197;15107827;14702039;12477932;21078624;21139048;22219177 347902 Q86SJ2 AB079074;AB080610;ABBA01031461;AC004010;AK091761;AK093111;AL833007;AMYH01004426;AY237005;AY454159;BC014103;BC047595;BC095477;CH471111;CN397638;JA738799;NM_001143668;NM_181847 AAH14103;AAH47595;AAH95477;AAO48946;AAR83271;BAC81188;BAC81189;BAG52413;BAG52657;CAH56293;CCF77052;EAW57923;EAW57924;NP_001137140;NP_862830;Q86SJ2 Hs.121520 1696596;1697182;2218216 AMIGO2__4296;RH102080;SHGC-82896 ALI1;AMIGO-2;DEGA AMIGO-2;OTTHUMP00000241691;OTTHUMP00000241692;OTTHUMP00000241693;alivin 1;alivin-1;amphoterin induced gene 2;amphoterin-induced protein 2;differentially expressed in gastric adenocarcinoma;differentially expressed in gastric adenocarcinomas protein-coding ENSG00000139211 24073 16483 VALIDATED 735629 AMIGO3 adhesion molecule with Ig-like domain 3 3 3 3 p21 49718958 49721929 - 49729969 49732127 - 49754267 49757238 - 6480464 12629050;15489334;12975309;12477932;11347906;21297633;20307617 386724 Q494V5;Q86WK7 ABBA01024577;AC099668;AMYH01013162;AY237003;AY358134;BC101363;BC101364;BC101365;BC110418;BQ673901;CH471055;NG_011603;NM_198722 AAI01364;AAI01365;AAI01366;AAI10419;AAO48944;AAQ88501;EAW65011;NP_942015;Q86WK7 Hs.567903 1675610;1684495;1712112;1852317;1856980;2106421;2117546;2153948;2177221 A004P45;A005X28;AMIGO3__4297;G54105;RH15941;RH65603;RH78233;RH78461;RH91732 AMIGO-3;MGC120552 OTTHUMP00000212652;alivin-3;amphoterin induced gene and orf 3;amphoterin-induced gene and ORF 3;amphoterin-induced protein 3 protein-coding ENSG00000176020 24075 16484 VALIDATED 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 12 12 12 p11.21 11646334 11704593 - 31715338 31773251 - 31824071 31882108 - 6480464 14702039;12477932 196394 B7Z7J3;E9PHB0;F5GWF7;F5H1R2;F5H286;F5H3D1;F5H7U5;Q8IY45 ABBA01031738;ABBA01031739;ABBA01031740;ABBA01031741;ABBA01031742;AC023157;AK094708;AK123033;AK302112;AK311214;AK311249;AL833434;AMYH01004367;AMYH01004368;BC037897;BC045831;BC067906;BI464068;CH471116;DC325581;DC394802;NM_001113402;NM_001278411;NM_001278412;NR_004854;NR_103522;NR_103523 AAH37897;AAH45831;AAH67906;BAH13629;EAW88543;EAW88544;NP_001106873;NP_001265340;NP_001265341;Q8IY45 Hs.585084;Hs.740628 1341681;1761059;1767747;2153618;2163568 D12S1621;RH11230;SHGC-145009;SHGC-56513;WI-20441 OTTHUMP00000240376;OTTHUMP00000240377;OTTHUMP00000240379;OTTHUMP00000240381;protein AMN1 homolog protein-coding ENSG00000151743 27281 14115 VALIDATED 1605931 AMMECR1L AMMECR1-like 2 2 2 q21 121930156 121953388 - 128335674 128358904 - 128619204 128643514 - 6480464 15489334;14702039;12477932;22087225;20098747;17207965;21139048;19322201 83607 Q6DCA0 ABBA01040189;ABBA01040190;AC012306;AK024993;AK026685;AK095871;AK304145;AL137415;AMYH01011025;AMYH01011026;BC004208;BC016181;BC067124;BC078174;BC084552;CH471103;NM_001199140;NM_031445 AAH16181;AAH78174;ADQ32032;BAG65038;EAW95346;EAW95347;EAW95348;EAW95349;NP_001186069;NP_113633;Q6DCA0 Hs.546449 1723251;2137072;2151359;2165885;2172906 AFMa204xe5;RH122312;RH70799;RH78129;WI-17503 FLJ38552;MGC4268 AMME chromosomal region gene 1-like;AMMECR1-like protein;OTTHUMP00000162270 APPROVED protein-coding ENSG00000144233 28658 14625 VALIDATED 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q22.3 109917037 110163085 - 109324070 109448036 - 109437414 109683461 - 6480464 15772651;15558565;15489334;14702039;12477932;10049589;9480748;17207965;16344560;21139048;19322201 9949 Q9Y4X0 ABBA01043400;ABBA01043401;ABBA01043402;ABBA01043403;ABBA01043404;ABBA01043405;ABBA01043406;ABBA01043407;ABBA01043408;ABBA01043409;ABBA01043410;ABBA01043411;ABBA01043412;ABBA01043413;ABBA01043414;ABBA01043415;ABBA01043416;ABBA01043417;ABBA01043418;ABBA01043419;ABBA01043420;ABBA01043421;ABBA01043422;ABBA01043423;ABBA01043424;ABBA01043425;AC000113;AJ007014;AJ012221;AK001703;AK023637;AK055321;AK091430;AK314596;AL079334;AL137844;AL359079;AMYH01022840;BC024762;BC037983;BC051895;BC060813;BC065214;BX648797;CH471120;DA203031;NG_016469;NM_001025580;NM_001171689;NM_015365 AAH60813;ADQ32993;BAG37168;BAG50964;BAG52359;CAB45546;CAB58122;CAB58123;EAX02663;NP_001020751;NP_001165160;NP_056180;Q9Y4X0 Hs.656243 1649891;1690496;1690862;1691594;1693282;1789118;1848099;1850366;2115681;2128498;2128856;2129101;2145915;2146027;2146936;2150189;2151116;2152653;2157043;2161165;2177617;5093366 A009N07;AF020160;AF026413;AL008900;AL022442;AL032569;DXS7531;DXS7599;DXS7733;DXS9727;G32676;G42344;G65693;L77264;L77265;RH11202;RH46895;RH77921;RH80450;RH80484;SGC34545;WI-16868 AMMERC1 AMME syndrome candidate gene 1 protein;Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,;OTTHUMP00000023851;OTTHUMP00000023852;OTTHUMP00000215172 APPROVED protein-coding ENSG00000101935 467 02182 300195 REVIEWED 1318522 AMN amnion associated transmembrane protein The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83443115 83451301 + 102458747 102467282 + 103388993 103397179 + 1599101;1580863;6480464;7240710 12590260 18029348;17979745;16730941;16403802;14702039;14576052;12975309;12477932;11279523;11279507;9851841;8889548;8660894;22078000;21750092;22929189 81693 H0YKJ5;H0YMX8;Q9BXJ7 ABBA01048448;ABBA01048449;AF328788;AK055802;AL117209;AMYH01006039;AY358468;BC029948;CB306421;CH471061;NG_008276;NM_030943 AAK28532;AAQ89949;BAG51576;EAW81798;EAW81799;NP_112205;Q9BXJ7 Hs.534494 2217008 AMN_3231 PRO1028;amnionless amnionless homolog;protein amnionless;visceral endoderm-specific type 1 transmembrane protein APPROVED protein-coding ENSG00000166126 14604 09314 261100;300100;605799 REVIEWED 1344662 AMOT angiomotin This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X q23 111904761 111970699 - 112018105 112084043 - 6480464 16678097;11257124;16043488;19590046;18824598;16754857;22385262;21145461;18850735;21481793;16640563;15804419;15489334;14702039;12902404;12477932;12406577;12168954;11257132;10470851;12345;21285250;123345;17148452;19565639;19615732;20080965;21224387;20562859;19913121;20628086;21832049;22939629;23564455;16196087;21139048;21890473;23000965;23389031;22053931;22948661 154796 A6NP16;E7ERM3;Q4VCS5 AB028994;ABBA01043121;ABBA01043122;ABBA01043123;ABBA01043124;ABBA01043125;ABBA01043126;ABBA01043127;ABBA01043128;ABBA01043129;ABBA01043130;ABBA01043131;ABBA01043132;AC004827;AF286598;AK024344;AK301573;AMYH01022847;AY987378;BC039408;BC050581;BC094712;BC130294;CH471120;NG_012628;NM_001113490;NM_133265 AAG01851;AAH94712;AAI30295;AAY24451;BAA83023;BAG63066;EAX02626;EAX02627;NP_001106962;NP_573572;Q4VCS5 Hs.528051 1664099;1672127;1694080;2110257;2116866;2150764;5106118 AFMa275zc9;AL035157;AMOT;AMOT_3722;G16015;G31118;WI-13613 KIAA1071 OTTHUMP00000023866;OTTHUMP00000037949;OTTHUMP00000037950;OTTHUMP00000226603;angiomotin;angiomotin p130 isoform;angiomotin p80 isoform APPROVED protein-coding ENSG00000126016 17810 02327 300410 REVIEWED 1313196 AMOTL1 angiomotin like 1 The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. [provided by RefSeq, Jul 2008] 11 11 11 q14.3 91789295 91897678 + 94141156 94249566 + 94501508 94609918 + 1580863;6480464 11076863;16019084;18029348;19590046;18951430;16381901;15489336;15489334;14702039;12477932;12406577;11733531;11230166;17353931;19565639;19615732;19932912;16055720;18850735;21139048;21890473;21906983;21685940;22558212 154810 E7ESY6;F8WDH4;Q8IY63 ABBA01040023;AF453742;AK024350;AK074084;AK093699;AL137281;AL833833;AMYH01003965;AP001152;AP002376;BC014126;BC018449;BC037539;BC040683;BX648729;CH471065;NM_130847 AAH14126;AAH37539;AAL49764;BAB84910;BAC04218;CAD38693;CAH56180;CAL38539;EAW66943;EAW66944;EAW66945;NP_570899;Q8IY63 Hs.503594 1724311;1767125;1848506;1848528;2134397;2167406;2174562 A004Y10;D11S2227E;RH119076;RH16151;RH36117;RH45157;WI-15566 JEAP OTTHUMP00000236978;OTTHUMP00000237751;angiomotin-like protein 1;junction-enriched and associated protein APPROVED protein-coding ENSG00000166025 17811 12451 614657 REVIEWED 737053 AMOTL2 angiomotin like 2 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 3 q21-q22 132500465 132519692 - 135556880 135576096 - 134074190 134093406 - 6480464 21145461;22779921;16189514;15489334;14702039;12477932;12406577;10231032;8889549;8125298;21937427;21987572;21832154;21139048;21906983;16678097;16344560;21963094;23564455;23667531 51421 D6RBK2;D6RCL7;D6RF61;D6RFG0;D6RIC7;D6RJA4;Q9Y2J4 AA056579;AB023206;ABBA01059156;AC010207;AF175966;AI214560;AK001343;AK074731;AK091040;AK223598;AK291616;AK299270;AMYH01013513;AW294642;BC011454;BC025981;BU178516;CH471052;DA330301;NM_001278683;NM_001278685;NM_016201 AAD56361;AAH11454;AAH25981;BAA76833;BAD97318;BAF84305;BAG51994;BAG52268;BAH12987;EAW79150;EAW79151;EAW79152;NP_001265612;NP_001265614;NP_057285;Q9Y2J4 Hs.426312;Hs.713601 1680505;1703178;1772593;2106423;2144025;2159147;2160410;2163020 A002Y47;AMOTL2__4299;RH80520;SGC32004;SHGC-32914;SHGC-34138;STS-H93486;WI-20334 LCCP Leman coiled-coil protein;OTTHUMP00000216465;OTTHUMP00000216466;OTTHUMP00000216530;OTTHUMP00000216978;angiomotin-like protein 2 APPROVED protein-coding ENSG00000114019 17812 16485 614658 REVIEWED 732010 AMPD3 adenosine monophosphate deaminase 3 This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 11 11 p15 10428800 10485702 + 10471868 10529126 + 734568;1580863;1300048;6480464;6907045 8032342 9291127;18493842;18409530;16670071;15807549;12604357;12477932;12213808;11139257;8863347;8611627;8140814;8004104;7881427;3804327;1420359;1400401;20379614;22505724;22145905;15174051;21906983;20686565 272 E9PIR5;E9PKC5;E9PLK6;E9PPG2;H0YDC3;H0YDY8;Q01432 ABBA01061158;ABBA01061159;AC021914;AK289998;AK294444;AK295046;AK299113;AK301507;AK302970;AK308181;AK311279;AK311436;AK311607;AK311711;AK313039;AMYH01003390;BC126118;CH471064;D12775;D31646;DC334250;DC401375;M84720;M84721;M84722;NG_012041;NM_000480;NM_001025389;NM_001025390;NM_001172430;NM_001172431;U29926 AAA58365;AAA58366;AAA58367;AAB60408;AAB60409;AAB60410;AAI26119;ADR83397;BAA02240;BAA06505;BAF82687;BAH11768;BAH11958;BAH12953;BAH13499;BAH13863;EAW68567;EAW68568;EAW68569;NP_000471;NP_001020560;NP_001020561;NP_001165901;NP_001165902;Q01432 Hs.501890 1647079;1738093;1739129;1794558;2110543;2110545;2167694;2171161;2186890;5492102 D11S3721;D11S3937;D6S2084;G15890;MARC_44783-45779:1101739380:7;MARC_44785-45781:1101739916:1;MARC_45777-45778:1101741591:5;PMC31832P1;RH46259;STS-U29926 AMP aminohydrolase;AMP deaminase 3;OTTHUMP00000230743;OTTHUMP00000230746;OTTHUMP00000230747;OTTHUMP00000230748;OTTHUMP00000230749;adenosine monophosphate deaminase (isoform E);adenosine monophosphate deaminase 3;erythrocyte AMP deaminase;erythrocyte type AMP deaminase;erythrocyte-specific AMP deaminase;myoadenylate deaminase APPROVED protein-coding ENSG00000133805 470 00041 102772;612874 REVIEWED 735799 AMPD1 adenosine monophosphate deaminase 1 Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 1 1 p13 115017245 115039699 - 115215719 115238239 - 1578329;1580863;6480464;6907045;7240710 15793265 644316;19427446;19422651;19353846;19277943;19237423;18855224;18801770;18493842;18409530;18338202;18224333;17687759;17630210;17565237;17530705;17463303;17376785;16996850;16947783;16875916;16767606;16710414;16707139;16671104;16570231;16360962;16021918;16021915;15882662;15677729;15368811;15309698;15239633;15173240;15135700;14702039;12783984;12477932;12213808;12117480;11102975;11028479;10996775;10086964;9880040;9730972;9443500;8355716;21145461;8335021;7201581;6406772;6167680;2502331;2345176;1631143;1400401;1370861;21108053;16344560;19845893;19902562;19948975;20044476;8889549;19913121;20544536;20628086;20952631;17500595;22105616;22017426;22324844 270 H0YCJ1;P23109 AA086476;AB125879;AB158499;AB158500;AB158502;AB160874;AB160875;AB160876;AB160877;AB160878;ABBA01068467;AK097077;AK291349;AK314252;AL096773;AMYH01000967;BC056678;CH471122;DA826076;M37931;M60092;NG_008012;NM_000036;NM_001172626 AAA57281;AAG24258;AAH56678;AAI40300;AAI41601;BAD23974;BAD23975;BAD23977;BAD27426;BAD27427;BAD27428;BAD27429;BAD27430;BAD69565;BAF84038;BAG36918;EAW56606;EAW56607;NP_000027;NP_001166097;P23109 Hs.89570 1660397;1736576;1740781;1746719;5491763 AI553520;AMPD1;CHLC.GGAA25C10;D1S2069E;D1S3310 MAD;MADA AMP deaminase 1;AMPD;OTTHUMP00000013665;OTTHUMP00000013666;adenosine monophosphate deaminase 1;adenosine monophosphate deaminase 1 (isoform M);adenosine monophosphate deaminase-1 (muscle);myoadenylate deaminase;skeletal muscle AMPD APPROVED protein-coding ENSG00000116748 468 00040 102770 REVIEWED 1346106 AMPD2 adenosine monophosphate deaminase 2 The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.3 108431768 108443987 + 109963982 109976200 + 110162435 110174677 + 1580863;6480464;6907045 16344560;8764830;18493842;17081983;16964243;15489334;12745092;12477932;8526848;1429593;1400401;19948975;20125088;22863883;22944692;19953087;21139048;21906983;21044950 271 B2RB47;E9PIJ1;E9PJF6;H0Y360;H0YCL9;H0YE32;H0YF16;Q16688 ABBA01068380;AK025706;AK296394;AK302939;AK308907;AK314494;AL355310;AMYH01000933;AMYH01000934;BC007711;BC030217;BC075844;CH471122;DA444620;DA558264;DC410161;M91029;NM_001257360;NM_001257361;NM_004037;NM_139156;NM_203404;S47833;U16267;U16268;U16269;U16270;U16272 AAA11725;AAA62126;AAA62127;AAB06511;AAC50306;AAC50307;AAC50308;AAC50309;AAD56302;AAD56303;AAH07711;AAH75844;BAG37094;BAG59062;BAG64097;EAW56396;EAW56397;EAW56398;EAW56399;EAW56400;EAW56401;NP_001244289;NP_001244290;NP_004028;NP_631895;NP_981949;Q01433 Hs.82927 1653207;2191703;2191749;2218218;5014053 A006D12;AMPD2__4213;D1S3693;MARC_5351-5352:996690313:1;MARC_6497-6498:996689707:1 AMP deaminase 2;AMPD;OTTHUMP00000013369;OTTHUMP00000013370;OTTHUMP00000013371;OTTHUMP00000233627;OTTHUMP00000233629;OTTHUMP00000233630;OTTHUMP00000233633;OTTHUMP00000233634;adenosine monophosphate deaminase 2 (isoform L) APPROVED protein-coding ENSG00000116337 469 11808 102771 REVIEWED 733884 AMPH amphiphysin This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010] 7 7 p14-p13 38389830 38637545 - 38423297 38671167 - 1300282;6480464 11879655 11709703;14973137;16139795;16275660;17437541;18647389;20946875;21712076;22745667;9259551;9388246;9736607;9182667;18814309;18206907;16733250;16671079;15489334;15345747;14704270;14529717;12853948;12690205;12565847;12477932;12456676;12057195;12023042;11877424;11113134;10931822;10899172;10764771;10748223;10542231;9694653;9603201;9513187;9348539;9315708;9280305;9195986;9148966;8552632;8245793;8076697;7757077;1628617;9341169;12558988;17419807;15834155;16696976;20379614;20214647;19669081;16344560;7757816;19144635;22331304;22360420;22558309;21900206;21044950;22975846;23000965 273 F5H533;H0Y5S4;H0Y7T8;P49418 AACC02000036;ABBA01056929;ABBA01056930;AC007245;AC011309;AC012490;AC096581;AF034996;AF099116;AF099117;AF099119;AF099120;AF498092;AF498093;AF498094;AF498095;AF498096;AF498097;AK291447;AMYH01017188;AMYH01017189;BC034376;CH236951;CH471073;DA125756;F03887;NM_001635;NM_139316;U07616;X81438 AAA21865;AAC02977;AAD16282;AAD16283;AAD16284;AAD16285;AAH34376;AAM44806;AAM44807;AAM44808;AAM44809;AAM44810;AAM44811;AAS07391;AAS07541;AAS07563;ADZ15497;BAF84136;CAA57197;EAL23989;EAL23990;EAW94110;EAW94111;NP_001626;NP_647477;P49418 Hs.592182 1646260;1649604;1649855;1650027;1653164;1706822;1752901;1771088;1771651;1846530;2053486;2107831 1708;AMPH;AMPH_8202;D7S2115E;GDB:1317308;REN97903;RH17983;SHGC-106776;SHGC-52716;SHGC-56040;SHGC-80888;WI-12429 AMPH1 OTTHUMP00000135289;OTTHUMP00000207238;Stiff-Man syndrome with breast cancer 128kDa autoantigen;amphiphysin;amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen);amphiphysin I APPROVED protein-coding ENSG00000078053 471 02687 600418 REVIEWED 1343884 AMT aminomethyltransferase This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 3 3 p21.2-p21.1 49429215 49435016 - 49454211 49460111 - 1599106;1599107;1580863;6480464;6907045;7242560;7240710 8005589;3877504;20645850 9600239;8188235;19367581;19161160;18676680;16450403;16051266;14702039;12477932;11286506;10873393;9621520;7916605;6790577;6111451;1993704;19170196;19416867;19625176;20307617;19913121;20628086;20634891;20877624;20301531;22171071 275 B4DGG9;C9JXJ4;F8WF62;H0Y695;P48728 ABBA01024587;AC104452;AK091738;AK096062;AK290600;AK293481;AK293594;AK294592;AK296177;AK301072;AMYH01013158;BC007546;BC044792;BC094771;CH471055;D13811;D14686;DC387800;GD148179;NG_015986;NM_000481;NM_001164710;NM_001164711;NM_001164712;NR_028435 AAH07546;AAH44792;BAA02967;BAA03512;BAF83289;BAG52409;BAG53206;BAG56972;BAG57060;BAG57780;BAG58912;BAG62678;EAW64984;EAW64986;NP_000472;NP_001158182;NP_001158183;NP_001158184;P48728 Hs.102 1651121;1743669;1743671;1743673;1858464;2178347 A002R20;D3S3344;GDB:366601;GDB:366602;GDB:366605;RH17372 GCE;GCST;GCVT;NKH OTTHUMP00000210791;OTTHUMP00000210792;OTTHUMP00000210793;OTTHUMP00000210824;aminomethyltransferase (glycine cleavage system protein t);aminomethyltransferase, mitochondrial;glycine cleavage system T protein;glycine cleavage system protein T APPROVED protein-coding ENSG00000145020 473 01997 238310;605899 REVIEWED 1604908 AMTN amelotin The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] 4 4 4 q13.3 68742456 68756611 + 71418887 71433048 + 71384298 71398459 + 6480464 16304441;16787391;15489334;15340161;12975309;12477932;21697133 401138 F1T0L8;Q6UX39 AB593161;ABBA01022928;ABBA01022929;AC134919;AMYH01014279;AY358528;BC121812;BC121817;CH471057;NM_212557 AAI21813;AAI21818;AAQ88892;BAJ84092;EAX05622;NP_997722;Q6UX39 Hs.453069 1339911 D4S2969 MGC148132;MGC148133;UNQ689 OTTHUMP00000160354;OTTHUMP00000219137;RSTI689;amelotin APPROVED protein-coding ENSG00000187689 33188 18270 610912 VALIDATED 1348537 AMY1B amylase, alpha 1B (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 p21 104031564 104040412 - 104230041 104238889 - 6907045 17353931;16203048;16152770;15286789;12477932;6608795;6176528;2788608;2452973;2423416;2081604;21628590 277 P04745;Q5T084;Q5T085 AI627716;AK292341;AK313275;AL513482;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB957894;CB958435;CB958705;NM_001008218 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI72291;BAF85030;NP_001008219;P04745 Hs.599274;Hs.654437;Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1C;MGC177995 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012691;alpha-amylase 1;amylase, alpha 1b; salivary;amylase, salivary, alpha-1B;glycogenase;salivary alpha-amylase;salivary amylase alpha 1B APPROVED protein-coding ENSG00000174876 475 18510 104701 REVIEWED 1348760 AMYP1 amylase, alpha pseudogene 1 1 1 p21 104057865 104064034 + 104256342 104262511 + 15286789;6608795;2788608;2452973;2081604 281 ABBA01045412;AL513482;NG_029354 AMY2P pseudo 479 INFERRED 1353407 AMY1A amylase, alpha 1A (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 p21 103999664 104008696 + 104198141 104207173 + 1580863;6480464;6907045 16740002;16203048;16152770;15708646;15489334;15299664;15286789;15194503;15182367;14637141;12782315;12527308;12477932;12414807;12104089;11858714;7507116;6610603;6608795;6196780;6176528;2788608;2458567;2452973;2450054;2442579;2424823;2423416;18951906;17984929;17828263;17593303;17353931;2081604;1710976;9109822;20967220;22391145;21840370;22492122;22100627;21628590;22965187;23144191 276 P04745;Q5T084;Q5T085;Q6NSB3 AC105272;AK292341;AK313275;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;BX487266;CB956272;M18671;M18674;M18715;M18786;M19233;NM_001008221;NM_004038 AAA16183;AAA52279;AAA57345;AAA58368;AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;BAF85030;NP_001008222;NP_004029;P04745 Hs.655232 5114567 SHGC-32938 AMY1;AMY1B;AMY1C 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012688;alpha-amylase 1;amylase, alpha 1a; salivary;amylase, salivary, alpha-1A;glycogenase;salivary alpha-amylase;salivary amylase alpha 1A APPROVED protein-coding ENSG00000237763 474 00096 104700 REVIEWED 1345853 AMY1C amylase, alpha 1C (salivary) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008] 1 1 p21 104093964 104102833 + 104292441 104301310 + 6480464;6907045 2423416;16203048;17353931;15286789;12477932;6608795;6176528;2788608;2452973;2081604;12414807;21628590 278 P04745 ABBA01028464;AI687773;AK292341;AK313275;AL513482;AMYH01000866;BC063129;BC069347;BC069463;BC070302;BC092444;BC132985;BC132987;BC132995;BC132997;BC144452;CB955582;CB985420;CB985730;CB987307;CD690933;NM_001008219 AAH63129;AAH69347;AAH69463;AAH70302;AAH92444;AAI32986;AAI32988;AAI32996;AAI32998;AAI44453;AAI46451;AAI56581;BAF85030;NP_001008220;P04745 Hs.655232;Hs.662103 5114567 SHGC-32938 AMY1;AMY1A;AMY1B 1,4-alpha-D-glucan glucanohydrolase 1;OTTHUMP00000012722;alpha-amylase 1;amylase, alpha 1c; salivary;amylase, salivary, alpha-1C;glycogenase;salivary alpha-amylase;salivary amylase alpha 1C APPROVED protein-coding ENSG00000187733 476 15911 104702 REVIEWED 3003936 AMZ2P2 archaelysin family metallopeptidase 2 pseudogene 2 6 6 159794719 159795837 - 159146722 159147840 - 100421018 ABBA01021083;AL589931;AMYH01016792;NG_022335;NG_029794 pseudo 38072 INFERRED 732589 AMY2A amylase, alpha 2A (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jul 2008] 1 1 p21 103961522 103969923 + 104159999 104168400 + 1580863;1300048;6480464;6907045 22063648;6336237;2788608;16152770;15648851;15571103;15489334;15304511;15286789;14718574;12477932;11914097;11772019;11376382;10769135;10091666;8528071;8193143;8125298;6610603;6608795;3260028;2458567;2452973;2450054;2423416;2081604;1284286;890964;20428766;19001184;21366335;21827821;21628590;22584580 279 H7BZQ8;P04746 AC105272;AK223463;AMYH01000850;AMYH01000851;AMYH01000852;AMYH01000853;AMYH01000854;AMYH01000855;AMYH01000856;AMYH01000857;AMYH01000858;AMYH01000859;AMYH01000860;AMYH01000861;AMYH01000862;BC007060;BC146997;CS588494;M18669;M18785;M28443;NM_000699;X07056;XM_003960107 AAA51723;AAA51724;AAA52280;AAH07060;AAI46998;ABM83827;ABM87150;BAD97183;CAA30099;CAN87444;NP_000690;P04746;XP_003960156 Hs.654437 AMY2;AMY2B;PA 1,4-alpha-D-glucan glucanohydrolase;OTTHUMP00000012694;alpha-amylase;amylase 1;amylase, alpha 2A; pancreatic;amylase, pancreatic, alpha-2A;found in the pancreas;glycogenase;pancreatic alpha-amylase;pancreatic amylase 2A;pancreatic amylase alpha 2A APPROVED protein-coding ENSG00000243480 477 00094 104650 REVIEWED 2293158 ANAPC10P1 anaphase promoting complex subunit 10 pseudogene 1 1 1 1 p32.3 51005803 51006631 + 52491881 52492655 + 52719239 52720067 + 729198 ABBA01074777;AC105754;AMYH01000619;NG_007660 ANAPC10P APPROVED pseudo 33976 INFERRED 1605859 AMZ1 archaelysin family metallopeptidase 1 7 7 7 p22.3 2688040 2723669 + 2685689 2721595 + 2719163 2755069 + 6480464 15972818;14702039;12690205;12477932;11853319 155185 A4D202;B3KRS0;Q400G9 AACC02000053;AB075830;ABBA01039388;ABBA01039389;AC006028;AJ635357;AK092107;AK289723;AK295842;AK308900;AK311182;AMYH01016977;AMYH01016978;BC146753;CH236953;CH471144;NM_133463 AAI46754;BAB85536;BAF82412;BAG52482;BAG58651;CAG25749;EAL23959;EAW87269;EAW87270;EAW87271;NP_597720;Q400G9 Hs.42221 1767196 STS-H96670 KIAA1950 OTTHUMP00000201186;OTTHUMP00000201187;archaemetzincin-1;archeobacterial metalloproteinase-like protein 1;metalloproteinase-like protein protein-coding ENSG00000174945 22231 17232 615168 PROVISIONAL 1319648 AMY2B amylase, alpha 2B (pancreatic) Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013] 1 1 p21 103898845 103923674 + 104097322 104122151 + 1580863;6480464;6907045 2401405;16152770;15489334;15286789;15252450;14702039;12477932;11408008;11376382;11347906;8268204;6608795;3260028;2788608;2701942;2458567;2452973;2081604;890964;16344560;1429515;1692298;2483397;309725 280 B3KTI1;C9J2Z5;C9JWK7;P19961 ABBA01045412;AC105272;AI436349;AK095605;AK127047;AMYH01000842;BC011179;BC020861;BX456665;CH471097;D90097;DA157436;DB235608;DQ786288;M18670;M24895;NM_020978;X07057 AAA35525;AAA51725;AAH11179;AAH20861;BAA14130;BAG53093;BAG54429;CAA30100;EAW72902;EAW72903;EAW72904;NP_066188;P19961 Hs.484588 1679996;1741403;2116807;2125765;5019379;5114548 G06574;GDB:181084;PMC133998P8;RH66389;SHGC-34189;SHGC-75238 AMY2;AMY3;HXA 1,4-alpha-D-glucan glucanohydrolase 2B;OTTHUMP00000012696;OTTHUMP00000012697;alpha-amylase 2B;alpha-amylase carcinoid;amylase, alpha 2b; pancreatic;carcinoid alpha-amylase;glycogenase APPROVED protein-coding ENSG00000240038 478 00095 104660 REVIEWED 1604205 AMZ2P1 archaelysin family metallopeptidase 2 pseudogene 1 17 17 17 q24.1 59533914 59542949 - 60394606 60400988 - 62962668 62971703 - 6480464 14702039;12477932;15489334;22990118 201283 ABBA01029054;AC037487;AK056627;AK311317;AMYH01008570;BC003669;BC063466;BC073870;BX537538;CH471099;NR_026903 BAB71235;EAW88989;EAW88990;EAW88991;EAW88992 Hs.396447 1666206;1677632;1847881;1854526;1856223 D17S1394E;D17S2023;G19285;RH27229;RH77729 DKFZp686D22101;FLJ32065;MGC90301 APPROVED pseudo ENSG00000214174 26491 08720 VALIDATED 1605392 AMZ2 archaelysin family metallopeptidase 2 17 17 17 q24.2 62815748 62824909 + 63755740 63764900 + 66244145 66253305 + 6480464 15972818;15489334;15146197;14702039;12477932;11042152;17207965;20379614;21139048;21906983 51321 J3KRD0;J3KRS2;J3KS38;J3KSH1;J3KTM1;J3QL25;J3QLK6;J3QQR3;Q86W34 ABBA01028964;AC005332;AJ635358;AK090981;AK126146;AMYH01008588;AW028610;BC035935;BC050709;BC056271;BE543044;BF978559;BM450564;BQ432895;CH471099;CN278872;NM_001033569;NM_001033570;NM_001033571;NM_001033572;NM_001033574;NM_016627 AAH50709;AAH56271;ADQ33093;BAC86462;BAG52256;CAG25750;EAW89047;EAW89048;EAW89049;EAW89050;EAW89051;NP_001028741;NP_001028742;NP_001028743;NP_001028744;NP_001028746;NP_057711;Q86W34 Hs.293560 1666206;1677632 D17S2023;RH27229 archaemetzincin-2;archaemetzincins-2;archeobacterial metalloproteinase-like protein 2 protein-coding ENSG00000196704 28041 14237 615169 VALIDATED 1346286 ANAPC13 anaphase promoting complex subunit 13 This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008] 3 3 3 q22.2 132622829 132631147 - 135679240 135687519 - 134196546 134204865 - 737633;6480464;6907045 12477932 18391952;16364912;15489334;15060174;14702039;21043528;20846217;20546612;18485873;11752456;15146197;22939629;20080579;20360068;22318606 25847 A8K3Z6;Q9BS18 ABBA01059155;AC010207;AF086169;AK001285;AK026550;AK290761;AL050051;AMYH01013514;AV682398;BC005398;BG428689;BU627217;BU852706;BX537696;CH471052;CN258858;NM_001242374;NM_001242375;NM_015391 AAH05398;BAF83450;CAB43251;EAW79143;EAW79144;EAW79145;EAW79146;EAW79147;EAW79148;EAW79149;NP_001229303;NP_001229304;NP_056206;Q9BS18 Hs.106909 1848135;1849906 D3S2877E;RH11514 APC13;DKFZp566D193;SWM1 OTTHUMP00000216544;OTTHUMP00000216545;OTTHUMP00000216546;OTTHUMP00000216547;anaphase-promoting complex subunit 13;cyclosome subunit 13;cylosome subunit 13;homolog of yeast Swm1 APPROVED protein-coding ENSG00000129055 24540 08531 614484 REVIEWED 6767436 ANAPC1P1 anaphase promoting complex subunit 1 pseudogene 1 2 p11.2 87088948 87122165 + 100286979 ABBA01075795;ABBA01075796;ABBA01075797;ABBA01075798;ABBA01075799;AC083899;AC092651;AC111200;AC125232;AK310642;AMYH01010508;NR_037931 Hs.731217 1673887;1769926;1775201;2115861 D2S2914;G16417;RH65352;RH78790 pseudo 44150 PROVISIONAL 1318993 ANAPC10 anaphase promoting complex subunit 10 ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011] 4 4 q31 146135760 146238818 - 145915727 146019693 - 6480464;6907045 10318877;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;15489334;15144564;12477932;11524682;11230166;10922056;10827173;10498862;12956947;21043528;11739784;16364912;18485873;18997788;14657031;21186364;21336306;22939629;22990118;23007861;20080579;22792066;17540176;20360068;22193957;21139048;21890473;21906983;15146197;15489335;22318606;22505724 10393 D6R9Q5;D6RA92;D6RB36;D6RD74;Q9UM13 AB012109;ABBA01070020;ABBA01070021;ABBA01070022;ABBA01070023;ABBA01070024;AC096757;AC097649;AF132794;AL080090;AMYH01014591;AMYH01014592;AV757106;BC005217;BF693880;BG494966;BG530912;BI488888;BU175327;BU567906;CH471056;CN305215;CV023091;DQ304649;NM_001256706;NM_001256707;NM_001256708;NM_001256709;NM_001256710;NM_001256711;NM_001256712;NM_014885;NR_046345 AAD30527;AAH05217;AAY40941;ABB96248;ACE86568;ACE87250;ADZ15958;BAA86953;CAB45705;EAX05050;EAX05051;EAX05052;EAX05053;NP_001243635;NP_001243636;NP_001243637;NP_001243638;NP_001243639;NP_001243640;NP_001243641;NP_055700;Q9UM13 Hs.480876 1650584;1683858;1768133;2152828;2162717 D4S1291;D4S307;G34382;RH93603;SHGC-67673 APC10;DKFZp564L0562;DOC1 OTTHUMP00000220297;OTTHUMP00000220298;OTTHUMP00000220299;OTTHUMP00000220300;OTTHUMP00000220301;OTTHUMP00000220303;OTTHUMP00000220304;anaphase-promoting complex subunit 10;cyclosome subunit 10 APPROVED protein-coding 24077 16488 613745 VALIDATED 1353292 ANAPC1 anaphase promoting complex subunit 1 This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011] 2 2 q12.1 112243109 112358212 - 112525214 112641741 - 1580863;6480464;6907045 21043528;18622497;18535175;16565220;15489334;15302935;15252450;14702039;14657031;12477932;11179667;11179223;10922056;10500174;10318877;18997788;12956947;11076961;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;17827148;21402913;11438673;16364912;17643375;18485873;19826416;20064487;22377092;23007861;23160376;23213260;23314748;21454540;22939629;22990118;23022380;21633387;20360068;20080579;17942546;19535905;19826003;21987572;22193957;21139048;21549307;21890473;21906983;21963094;22586326;22014574;22504420;23263983;23251661;16921029;22190034;22505724 64682 F8WAS1;H0Y564;Q9H1A4 ABBA01005792;ABBA01005793;ABBA01221145;ABBA01232815;AC093166;AC104651;AI421643;AJ278357;AK023807;AK094527;AL832013;AMYH01010946;BC005089;BC104902;BC104904;BX282336;CH471245;DQ786300;NM_022662 AAH05089;AAI04903;AAI04905;BAB14687;CAC19484;EAW52095;NP_073153;Q9H1A4 Hs.436527 1673887;1769926;2115861;5022651 D11S2921;D2S2914;G16417;RH65352 APC1;MCPR;TSG24 OTTHUMP00000161951;OTTHUMP00000203537;anaphase-promoting complex 1 (meiotic checkpoint regulator);anaphase-promoting complex subunit 1;cyclosome subunit 1;mitotic checkpoint regulator;testis-specific gene 24 protein APPROVED protein-coding ENSG00000153107 19988 09769 608473 VALIDATED 1345646 ANAPC16 anaphase promoting complex subunit 16 10 10 10 q22.1 67259517 67279309 + 73645812 73665624 + 73975758 73995618 + 737633;6480464 12477932 15489334;15164054;14702039;18851979;21043528;16341674;19232044;20360068;15851553;16344560;18029348;20080579;22193957;21906983;19322201;22990118 119504 C5H3H2;Q96DE5 ABBA01020358;ABBA01020359;ABBA01020360;AI038150;AK023981;AL607035;AMYH01002821;AMYH01002822;AMYH01002823;BC009530;BF975718;BM768948;CB984695;CD511334;CD724246;CH471083;DA310509;DA739927;EU552924;NM_001242546;NM_001242547;NM_001242548;NM_173473;NR_038391;NR_038392 AAH09530;ACD68153;EAW54448;EAW54449;EAW54450;EAW54451;NP_001229475;NP_001229476;NP_001229477;NP_775744;Q96DE5 Hs.426296 2165308;2165310;5015861;5020740;5022578;5037552;5109362;7185938 A006H35;D10S16;D17S1239;D1S1423;D8S2279;G20818;L17809 APC16;C10orf104;CENP-27;FLJ33728;MSAG;bA570G20.3 OTTHUMP00000019780;anaphase-promoting complex subunit 16;centromere protein 27;cyclosome subunit 16;metabolic syndrome-associated protein APPROVED protein-coding ENSG00000166295 26976 12554 613427 VALIDATED 1353092 ANCR Angelman syndrome chromosome region 7240710 282 482 105830 1601769 ANAPC15 anaphase promoting complex subunit 15 11 11 11 q13.4 69122580 69125769 - 71498281 71501470 - 71820633 71823822 - 6480464 11256614;15489334;12477932;11230166;11042152;8125298;15146197;17207965;23007861;23160376;21926987 25906 F5GWM6;F5GXB9;F5H2T3;F5H3R3;F5H6E4;F8WDQ6;G5EA39;P60006 ABBA01017542;AF077206;AK222622;AK311146;AL080071;AMYH01003791;AP000812;BC005156;BC005393;BE616852;BG752082;BG764016;BU532056;BU856100;BU930156;CD049337;CH471076;CN306434;HY080534;NG_021423;NM_001278485;NM_001278486;NM_001278487;NM_001278488;NM_001278489;NM_001278490;NM_001278491;NM_001278492;NM_001278493;NM_001278494;NM_014042 AAD27001;AAH05156;AAH05393;ACE86562;ACE87244;ADQ32392;CAB45698;EAW74838;EAW74839;EAW74840;EAW74841;EAW74842;NP_001265414;NP_001265415;NP_001265416;NP_001265417;NP_001265418;NP_001265419;NP_001265420;NP_001265421;NP_001265422;NP_001265423;NP_054761;P60006 Hs.38044 1683379;1847699 RH44914;RH92229 APC15;C11orf51;DKFZp564M082;HSPC020 OTTHUMP00000237102;OTTHUMP00000237103;OTTHUMP00000237104;OTTHUMP00000237105;OTTHUMP00000237106;OTTHUMP00000237107;OTTHUMP00000237108;OTTHUMP00000237109;OTTHUMP00000237110;anaphase-promoting complex subunit 15;hypothetical protein LOC25906;uncharacterized protein C11orf51 APPROVED protein-coding ENSG00000110200 24531 13172 614717 VALIDATED 1343647 ANAPC11 anaphase promoting complex subunit 11 17 17 q25.3 77442895 77451655 + 79849599 79858363 + 1580863;6480464;6907045 11739784;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;15489334;15256223;14702039;12477932;11573242;11042152;10922056;12956947;16712791;19690564;20826619;10230407;16364912;18485873;18997788;19826416;16341674;14657031;20080579;21926987;19475398;20360068;23007861;22493164;23007976;23078409;16455800;16921029;17227951;17360335;19826003;20733055;21874044;21937719;22529100;22580460 51529 J3KSK3;J3QL35;J3QS46;Q9NYG5 ABBA01019648;ABBA01019649;ABBA01019650;ABBA01019651;ABBA01019652;AC145207;AF151048;AF247565;AF247789;AK091360;AK307214;AK308091;AMYH01008722;BC000607;BC066308;BC095454;BC104641;BC171892;BC171898;BC171899;BC171900;BF435042;BF512771;BG707824;BM845909;BU554167;BU556841;CB106395;CH471099;NM_001002244;NM_001002245;NM_001002246;NM_001002247;NM_001002248;NM_001002249;NM_016476 AAF36134;AAF65816;AAH00607;AAH66308;AAH95454;AAI04642;AAI71892;AAI71898;AAI71899;AAI71900;AAL95694;EAW89700;EAW89701;EAW89702;EAW89703;NP_001002244;NP_001002245;NP_001002246;NP_001002247;NP_001002248;NP_001002249;NP_057560;Q9NYG5 Hs.534456 1734536;1775296;2107829;2115369;2147438 A006A06;ALY_7964;D17S1466E;RH16023;RH65274 APC11;Apc11p;HSPC214;MGC882 APC11 anaphase promoting complex subunit 11 homolog;anaphase promoting complex subunit 11 (yeast APC11 homolog);anaphase-promoting complex subunit 11;cyclosome subunit 11;hepatocellular carcinoma-associated RING finger protein protein-coding ENSG00000141552 14452 12452 614534 VALIDATED 1313636 ANAPC2 anaphase promoting complex subunit 2 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008] 9 9 q34.3 139189057 139202878 - 140069236 140083057 - 1580863;6480464;6907045 9469815;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;16964243;16364912;15489334;15231748;15164053;14657031;14508008;12477932;11739784;11691822;10922056;10718198;10500174;10318877;12956947;16287863;16319895;10230407;11076961;17443186;18485873;9637688;9811605;22990118;21439932;21768287;22939629;20080579;20360068;21900206;21903591;21043528;21145461;22280307;21987572;22193957;21139048;21186356;21549307;21890473;21906983;17187060;17403670;21135578;21937719;11438673;16648845;16921029;22190034;22505724 29882 Q9UJX6 AB037827;ABBA01022747;AF191337;AK294601;AK296204;AL929554;AMYH01021893;BC001579;BC009487;BC032503;BC033579;BM925063;BU526961;CH471090;NM_013366 AAF05751;AAH01579;AAH09487;AAH32503;ABM81778;ABM84933;BAA92644;BAG57788;BAG58931;EAW88361;NP_037498;Q9UJX6 Hs.533262 1680713;1851107;2109889 RH75093;RH78795;SSNA1_7924 APC2;RP11-350O14.5 OTTHUMP00000022692;anaphase-promoting complex subunit 2;cyclosome subunit 2 APPROVED protein-coding ENSG00000176248 19989 07367 606946 REVIEWED 1315264 ANAPC4 anaphase promoting complex subunit 4 A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. [provided by RefSeq, Jul 2008] 4 4 p15.2 24987946 25029218 + 25378848 25420120 + 1580863;6480464;6907045 6180011;9469815;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;14702039;14684825;14657031;12477932;18471975;21043528;10922056;10500174;10318877;8889548;12956947;11076961;16364912;17554300;18485873;19826416;20686030;20966902;22939629;22990118;23007861;23160376;20080579;21926987;20360068;22193957;19471022;21139048;21693764;21890473;22145905;19535905;20733055;21335556;21336306;19531213;16921029 29945 D6RAP6;D6RFM7;E9PCR4;Q9UJX5 ABBA01032696;ABBA01032697;AC108218;AC110812;AF191338;AK001881;AK023562;AK023597;AK292336;AL353932;AMYH01014068;AY429517;AY429518;BC059383;BI546948;CA312572;CH471069;NM_013367 AAF05752;AAH59383;BAF85025;BAG51209;CAB89245;EAW92839;EAW92840;NP_037499;Q9UJX5 Hs.152173 1664313;1664315;1667031;1689462;1785078;2139198;2184419;5094864 ANAPC4;D4S2517E;D4S2679;RH92873;SHGC-154840;SHGC-24100;SHGC-50273;SHGC-59815 APC4 OTTHUMP00000123382;OTTHUMP00000218479;anaphase-promoting complex subunit 4;cyclosome subunit 4 APPROVED protein-coding ENSG00000053900 19990 09505 606947 REVIEWED 1314740 ANGEL1 angel homolog 1 (Drosophila) 14 14 14 q24.3 57292199 57317888 - 76323339 76348983 - 77253586 77279283 - 6480464 18029348;12508121;12477932;11943475;9872452;21906983 23357 G3V414;G3V437;G3V5C4;Q9UNK9 AB018302;ABBA01030670;ABBA01030671;AF111169;AK025609;AK301069;AK301589;AL137268;AMYH01005868;AMYH01005869;BC028714;CH471061;DB452865;NM_015305 AAD44362;AAH28714;BAA34479;BAG62676;BAG63079;CAB70667;EAW81261;EAW81262;EAW81263;NP_056120;Q9UNK9 Hs.497448 1666535;1673697;1740123;2174436 D14S905;G35980;RH44775;WI-14582 FLJ60172;KIAA0759 OTTHUMP00000246196;protein angel homolog 1 protein-coding ENSG00000013523 19961 13815 VALIDATED 1349500 ANG angiogenin, ribonuclease, RNase A family, 5 The protein encoded by this gene is an exceedingly potent mediator of new blood vessel formation. It hydrolyzes cellular tRNAs resulting in decreased protein synthesis and is similar to pancreatic ribonuclease. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes ribonuclease, RNase A family, 4 share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Jul 2008] 14 14 q11.1-q11.2 20222176 20232185 + 21152336 21162345 + 1580863;2325699;2325702;2325704;2325712;2325717;2325697;2325700;2325708;2317659;2325707;2325714;2317660;2325716;2325719;2325706;2325705;2325710;6480464;6892712;6892721;6892714;6892716;6892705;6892708;6892719;6892723;6892707;6892713;6892724;6892710;6892722;6892709;6771318;2307061;6892711;6892718;7240710 18808740;15776477;15329320;9748135;19666176;19276260;15912517;11299848;9119882;11948474;9539780;9166545;8665497;18462761;12705339;14748845;10421268;20629092;12653852;17823536;17462671;22449478;21916917;16478840;19178538;22190368;19177252;15236995;22748184;21848603;22331014;18978347;21091473;16501576 22438557;11782452;9245697;10103013;2457905;9122172;2424496;2730651;2646638;17125737;2479414;16567967;15166501;11438326;12770725;11984825;9707554;15735021;10999833;15979542;16490744;3470787;3663649;16461950;19363631;19332886;19253715;19160530;19158252;18955785;18936943;18852347;18636464;18087731;17900154;17886298;17703939;17113198;16937522;16322296;15737636;15558023;15557516;15489334;15182336;15128420;15067362;15064314;14756559;14671622;14593238;12842050;12515546;12477932;12209593;12168899;11919285;11851402;11847008;11752456;11751393;11468363;11374889;10648935;9918722;9461294;9311977;8159679;8127865;7945327;3619929;2866795;2866794;2742853;2440105;2276743;1978563;10649442;7679494;1400510;16169070;22372545;22266868;17991437;19262607;19287993;19423182;19625371;19631914;20045391;20452482;20472325;8448182;20174961;16712791;20105109;20955379;17207965;20577002;20673868;20952631;21085671;21103661;20838751;10413501;21209106;20923443;21364907;21528671;21154263;22526325;21375772;21778318;22148849;20137109;21539846;20484129;21621297;21439815;21711968;22292843;21800332;23229115;23409128;22194915;22292798;22384259;22633874;21808991;20301623;22940420;21988832;22694909;21919032 283 P03950 ABBA01061234;AF449647;AF449648;AF449649;AF449650;AF449651;AK313989;AL163636;AMYH01005590;AV646929;BC020704;BC054880;BC062698;BQ773604;CB157060;CB963791;CH471078;CR407633;FJ236304;M11567;NG_008717;NG_033053;NM_001097577;NM_001145 AAA51678;AAH20704;AAH54880;AAH62698;AAL67710;AAL67711;AAL67712;AAL67713;AAL67714;ACI45236;ADQ32136;BAG36701;CAG28561;EAW66450;EAW66451;NP_001091046;NP_001136;P03950 Hs.283749 1668881;1741145;2185370 D14S1338;GDB:178381;RH1630 ALS9;HEL168;MGC22466;MGC71966;RNASE4;RNASE5 OTTHUMP00000164019;OTTHUMP00000164020;OTTHUMP00000164021;RNase 5;angiogenin;epididymis luminal protein 168;ribonuclease 5 APPROVED protein-coding ENSG00000214274 483 00105 105850;611895 REVIEWED 1601837 ANGEL2 angel homolog 2 (Drosophila) 1 1 1 q32.3 186387057 186410696 - 211232147 211255791 - 213165524 213189168 - 6480464 14702039;12477932;11943475;21139048;21906983;19322201 90806 B7Z5T0;F5H476;Q5VTE6;Q96AL9 ABBA01048159;ABBA01048160;AF510741;AI658922;AK022855;AK093947;AK294479;AK295116;AK299208;AK299365;AK310946;AK311276;AL079275;AL592449;AMYH01001713;AY468376;BC016966;BC047469;BX103687;CH471100;NM_144567 AAH16966;AAH47469;AAM44053;BAH11783;BAH11980;BAH12969;BAH13016;EAW93365;EAW93366;EAW93367;EAW93368;EAW93369;EAW93370;NP_653168;Q5VTE6 Hs.157078 1644382;1679275;1700014;1734230;1769377;2179428;5015861;5015879;5020948;5024761;7185938 D10S16;D1S1747;G35510;GDB:314949;RH103619;RH36905;RH94312;SHGC-76304;SHGC-76315;WI-14782 FLJ12793;KIAA0759L OTTHUMP00000035020;OTTHUMP00000035021;protein angel homolog 2 protein-coding ENSG00000174606 30534 14279 VALIDATED 1344930 ANAPC7 anaphase promoting complex subunit 7 This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 12 12 q24.11 109296332 109325815 - 110810705 110841535 - 1580863;6480464;6907045 11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;16319895;15743504;15489334;14702039;14657031;12956947;12477932;10922056;10500174;10477750;10318877;9469815;9110174;8619474;18162579;18997788;11076961;11340163;19091741;18789487;16861917;16344560;18685082;21043528;21145461;21596315;16364912;18485873;19615732;19826416;19454010;22990118;23022380;22939629;23078409;23007861;23160376;23314748;23383273;16196087;20080579;21926987;17942546;19826003;22792066;20360068;21987572;22193957;19471022;21139048;21549307;21693764;21890473;21906983;19531213;16921029;22053931;22505724;22797925 51434 F8VQY8;F8VVT8;F8VVU6;F8VZ62;H0YIW2;H0YIX7;Q4KMX6;Q69YV3;Q9UJX3 ABBA01005098;ABBA01005099;ABBA01005100;ABBA01005101;ABBA01005102;ABBA01005103;AC144548;AF191340;AK021809;AL137586;AL157481;AMYH01004740;AMYH01004741;AY007104;BC002941;BC009498;BC017316;BC040130;BC098264;BC098295;BC098362;BC099732;BC111798;BC141848;BC148236;BG105587;CH471054;DB003237;NM_001137664;NM_016238 AAF05754;AAH02941;AAH09498;AAH17316;AAH98264;AAH98295;AAH98362;AAH99732;AAI11799;AAI41849;AAI48237;BAG51054;CAB70828;CAH10690;EAW97909;EAW97910;EAW97911;NP_001131136;NP_057322;Q9UJX3 Hs.719935 1673197;1740021;2122754;2133430;2152078;5017433 D12S1570;D12S2011;NIB1273;RH78491;STS-T76997;WI-12246 APC7 OTTHUMP00000211290;OTTHUMP00000211291;anaphase-promoting complex subunit 7;cyclosome subunit 7 APPROVED protein-coding ENSG00000196510 17380 16233 606949 REVIEWED 1314558 ANAPC5 anaphase promoting complex subunit 5 This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008] 12 12 q24.31 120230543 120274585 - 121746048 121792012 - 6480464;6907045 9469815;11285280;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;16861917;16319895;21043528;21145461;21596315;22580462;15761153;15489334;15302935;15082755;14702039;14657031;12956947;12477932;11401522;10922056;10500174;10318877;7566098;16169070;17827148;11076961;16364912;18162579;18485873;19826416;20686030;22990118;23022380;22939629;20080579;22792066;20360068;21900206;21987572;22193957;21139048;21549307;21890473;21906983;19531213;22318606;23007861;23160376;16921029;22053931;22505724 51433 B4DFK4;F5GY68;F5GZ05;F5H0F9;F5H0N1;F5H3S5;H0YFB5;Q9UJX4 AA349724;ABBA01020157;ABBA01020158;ABBA01020159;ABBA01020160;AC048337;AC069209;AF191339;AI879332;AK025614;AK054779;AK294139;AK301197;AK315451;AMYH01004811;BC001081;BC001950;BC003095;BC006301;BC034243;BC045686;BX381618;BX537687;CH471054;NM_001137559;NM_016237 AAF05753;AAH01081;AAH01950;AAH06301;AAH34243;AAH45686;BAG51422;BAG57465;BAH13429;CAD97812;EAW98259;EAW98260;EAW98261;NP_001131031;NP_057321;Q9UJX4 Hs.7101 1653567;1707940;1746323;1746447;1848161;1848163;5125284 A001Z45;G19833;G64569;G64617;HSC2OG072;SHGC-34758;SHGC-82223 APC5 OTTHUMP00000240249;OTTHUMP00000240250;OTTHUMP00000240251;anaphase-promoting complex subunit 5;cyclosome subunit 5 APPROVED protein-coding ENSG00000089053 15713 10453 606948 REVIEWED 733136 ANGPT1 angiopoietin 1 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] 8 8 q23.1 108330886 108579430 - 108261710 108510254 - 704373;1580863;1578337;704403;1578345;1578336;1626164;1643339;1643335;1643336;1601496;1643338;1643340;1626162;1626163;1626167;1626168;1626157;2313818;2293864;2293863;2293883;2313817;2293852;2316067;2316068;2316069;2316041;6480464;6907045 11822892;15714275;11549276;16389943;14759414;16626513;17637706;17505508;11326698;12768384;17935226;10780674;17356562;17294737;15459484;15364619;16942942;12000720;12138242;15517881;15754349;15047628;17295646;18344375;18285514;18073453;19885826 17466926;8980223;10766762;14665640;14749497;19487284;19351722;19301945;19300530;19223473;19148554;19127216;19082594;19082480;19028450;19010534;18996102;18991494;18823985;18807212;18675456;18664247;18425120;18382887;18330951;18326231;18310225;18199826;18092380;18080866;18035072;17943167;17803352;17785951;17728252;17724803;17603084;17562701;17558601;17525262;20471887;17341311;17322632;17168735;17039426;16956819;16917117;16830384;16803467;16723371;16690881;16645159;16614513;16547766;16354591;16049136;16020388;16000309;15892598;15823283;15781448;15769741;15746084;15694363;15692086;15562207;15498854;15453096;15381091;15284220;15242771;15213103;15198927;15161644;15094228;15019820;15001532;14991531;14715662;14672554;14597243;14561809;12958167;12890486;12816861;12810673;12717391;12649156;12612904;12477932;12427764;12402160;12243755;12239588;12213874;12168954;11967990;11891175;11870550;11856872;11827452;11776343;11729102;11165944;10944458;10854239;10706866;10514510;10343124;10051567;9723709;9660821;9545648;9525952;9204896;8980224;7642106;7584028;7584026;15542434;20629092;21948244;22449617;22205728;22583143;20554518;10218485;12958144;15851516;18269030;19297368;19322669;19339077;19424712;19476937;19478794;19543148;19615361;19674970;19689429;19733541;19815705;19875484;19916173;19919521;19922791;19954476;20036815;20056911;20098680;20099495;20346360;20378606;9560344;14978158;20072144;20602615;20208992;20185425;20696814;21168819;21710361;16229183;21042788;19567053;21273558;19086654;21212269;21400522;22949515;23504320;23099117;23592718;21179479;22391155;22642477;21778249;22901561;21878936;21300047;21672190;21906428;21884468;21140268;23024612;21885850;22000910;21660578;21858121;21905000;21905955;22033412;22229541;22143796;22334788;22483377;22496856;21849906;20863203;22015631;22235284;23190105;22095586;21963094;23288163;23382691;22867989;23123737;23302768;21380565 284 B4DTQ9;E5RFF4;E7ERK4;Q15389 AB084454;ABBA01037696;AC091010;AK300319;AK304717;AL700429;AMYH01018954;AMYH01018955;AP000428;AP003480;AW069541;AY055342;AY121504;AY124380;BC029406;BC152411;BC152419;BX648814;CH471060;CX867178;D13628;NG_029405;NM_001146;NM_001199859;U83508 AAB50557;AAH29406;AAI52412;AAI52420;AAI66662;AAL59669;AAM81745;AAM92271;ACE86690;ACE87374;BAA02793;BAB91325;BAG62071;BAG65481;CAI45984;EAW91909;EAW91910;EAW91911;EAW91912;NP_001137;NP_001186788;Q15389 Hs.369675 1342148;1672825;1712699;1848002;2218990;5015619;5094713 ANGPT1__4215;Angpt1;D11S3114;D8S383;RH121046;RH17369;RH25244 AGP1;AGPT;ANG1 ANG-1;OTTHUMP00000227592;OTTHUMP00000227599;OTTHUMP00000227600;OTTHUMP00000227626;angiopoietin-1 APPROVED protein-coding ENSG00000154188 484 03392 601667 REVIEWED 730844 ANGPT2 angiopoietin 2 The protein encoded by this gene is an antagonist of angiopoietin 1 (ANGPT1) and endothelial TEK tyrosine kinase (TIE-2, TEK). The encoded protein disrupts the vascular remodeling ability of ANGPT1 and may induce endothelial cell apoptosis. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 p23.1 6347601 6408170 - 6357172 6420784 - 1580863;1300283;2313815;2313934;2314171;2314177;2314180;2314189;2314193;2314210;1601505;1601496;2314294;2293853;2314178;2314185;2314207;2314239;2314205;2314216;2314174;2314204;2314206;1601493;2314213;2313816;2314233;2314184;2313817;1626166;2293852;6480464 12861074;15823283;19672036;19070926;18929866;18751736;18615861;18272601;16750245;12737621;12768384;10373119;15705099;18929864;19712575;17065527;15135347;17692314;16520919;18978178;17849463;17494864;16714360;16628643;15209761;15643138;18692629;15047628;15637314;17295646 18516587;16129411;22279570;22311497;9204896;10766762;19351722;19341361;19339208;19300530;19271210;19228739;19223473;19164323;19112163;19082594;19018553;19010534;18996102;18991494;18957536;18952457;18807212;18791490;18720385;18675456;18664247;18644593;18568888;18564921;18541195;18483397;18382887;18310225;18182823;18092380;18006475;17943167;17931370;17928052;17904634;17785951;17724803;17704802;17673702;17630849;17601353;17558601;17513791;17505039;17409768;17395886;17361220;17341311;17322632;17287278;17258205;17200776;17167981;17141400;17030814;17003480;16978614;16978237;16956819;16877277;16830384;16803467;16790091;16723371;16714355;16690881;16629644;16614513;16538528;16525658;16465407;16458662;16424009;16417407;16344560;16338068;16290311;16242072;16182107;16020388;16009172;15769741;15743799;15734895;15694966;15642468;15562207;15542434;15498854;15489334;15375511;15284220;15284088;15213103;15198927;15161644;15127326;15112366;15094228;15003510;15002056;14991531;14976056;14768007;14767538;14726409;14702352;14568550;14556828;14507641;12810677;12717391;12477932;12213874;12176040;12138242;11861279;11856872;11578860;11447223;10964717;10514510;10343124;10051567;9927494;9723709;9545648;8125298;12427764;15893672;12612904;21948244;22449617;22730375;21643812;20806109;20213583;21400522;20629092;21248670;21257790;18269030;19102939;19226440;19403561;19435449;19438587;19476937;19478794;19499513;19502452;19539650;19543148;19551369;19616847;19815705;19875484;19913849;19922791;19954476;20067780;20068079;20099495;20379614;20452482;9660821;20072144;20562294;19728062;20599737;20348331;20088942;20382847;20501615;20583134;20670479;20519501;20673868;17828495;20179005;20208992;20482750;20696814;21081932;21168819;21119365;21603628;21680733;16229183;21042788;19567053;21143700;21163858;18727515;19086654;20359117;21368233;23024612;22949515;22659681;23284823;22642477;21380565;23149917;21179479;21439064;21269615;21778249;22728324;21300047;21672190;23467610;21131273;21149250;21685330;21762624;21884468;21337734;21750433;21884204;21900206;21851472;22000910;21575447;22229541;21858121;22640261;22989097;23190105;23190218;22342979;23409162;23503679;23536671;21450636;21576085;22483377;22585576;20863203;21849906;22182412;21809353;22327175;22015631;22142364;22095586;22750392;22995870;23099117;21956768;22289349;23123737;23302768;22770562;21565611;21963094;22777681 285 E7EVQ3;O15123 AB009865;ABBA01007058;AC018398;AF004327;AF187858;AF218015;AJ289780;AJ289781;AK075219;AK225698;AK290070;AK310171;AK312541;AMYH01018299;AY563557;BC022490;BC126200;BC126202;BC143902;CH471153;CS322905;DA829327;NG_016619;NG_029483;NM_001118887;NM_001118888;NM_001147 AAB63190;AAF76526;AAG17257;AAI26201;AAI26203;AAI43903;AAT69979;ADR83012;BAA95590;BAF82759;BAG35440;CAC08179;CAC08180;CAK96154;EAW80472;EAW80473;EAW80474;NP_001112359;NP_001112360;NP_001138;O15123 Hs.583870 1676612;1707412;1721979;1765359;2140366;2149054;2187306;5020948;5022578;5037552 D1S1423;D8S2279;G35510;G59875;RH47768;RH48380;RH93262;SHGC-148851;SHGC-84494;STS-AA011655 AGPT2;ANG2 ANG-2;OTTHUMP00000115423;OTTHUMP00000224502;OTTHUMP00000224503;Tie2-ligand;angiopoietin-2;angiopoietin-2B;angiopoietin-2a APPROVED protein-coding ENSG00000091879 485 03563 601922 REVIEWED 1351491 ANGPTL5 angiopoietin-like 5 11 11 11 q22.1 98922208 98948056 - 101266615 101292465 - 101761405 101787253 - 737633;6480464 12477932 15489334;12975309;12624729;21559522 253935 E9PKF7;Q86XS5 ABBA01039954;AK291523;AMYH01003990;AP003383;AY169281;AY358827;BC049170;BC053957;CH471065;NM_178127 AAH49170;AAO38749;AAQ89186;BAF84212;EAW67006;NP_835228;Q86XS5 Hs.318370 1681991;1718497 RH122451;RH93179 OTTHUMP00000235685;angiopoietin-like protein 5;angiopoietin-related protein 5;fibrinogen-like protein-coding ENSG00000187151 19705 09638 607666 VALIDATED 1316792 ANGPT4 angiopoietin 4 Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008] 20 20 p13 801296 844960 - 853296 896960 - 1580863;6480464 19204726;17724803;16790085;15489334;15284220;15198927;12624729;12477932;11856872;11780052;11076863;10343124;10218486;10051567;15542434;19913121;20628086;20819778;20823154;10025962;12958144;15851516;20596041;21603628;22267746 51378 B4E3J9;Q9Y264 ABBA01053760;ABBA01053761;AF074332;AF113708;AK304756;AL050325;AL161939;AMYH01011662;BC111976;BC111978;CH471133;CS322907;CS322909;NM_015985 AAD21587;AAD31728;AAI11923;AAI11977;AAI11979;AAI18496;BAG65511;CAK96135;CAK96155;EAX10654;NP_057069;Q9Y264 Hs.278973 2109035 ANGPT4_9713 AGP4;ANG-3;ANG4;MGC138181;MGC138183 ANG-4;OTTHUMP00000029947;angiopoietin-3;angiopoietin-4;dJ824F16.2 (angiopoietin 4) APPROVED protein-coding ENSG00000101280 487 04747 603705 REVIEWED 1347249 ANGPTL1 angiopoietin-like 1 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008] 1 1 q25.2 177085293 177106838 - 178818670 178840215 - 1580863;6480464 10025962;10051567;18644593;18182823;16710414;16303743;15950186;15940350;15489334;15284220;12624729;12477932;10473614;10318855;9286704;8889548;8125298;15542434;20819778 9068 O95841 AB056476;ABBA01027826;AF086266;AF107253;AK223467;AK300218;AL355520;AMYH01001526;AY358278;BC047670;BC050640;BM710120;BX499002;CD356427;CH471067;NM_004673 AAD19608;AAH50640;AAQ88645;BAB40691;BAD97187;BAG61986;EAW91032;EAW91033;NP_004664;O95841 Hs.591474 1699170;1774355;1797278;2156716 ANGPTL1_2107;RH103165;SHGC-57465;SHGC-75984 ANG3;ANGPT3;ARP1;AngY;KIAA0351;UNQ162;dJ595C2.2 ANG-3;OTTHUMP00000033048;OTTHUMP00000038514;angioarrestin;angiopoietin 3;angiopoietin Y1;angiopoietin-3;angiopoietin-like protein 1;angiopoietin-related protein 1;dJ595C2.2 (angiopoietin Y1) APPROVED protein-coding ENSG00000116194 489 04851 603874 REVIEWED 733949 ANGPTL2 angiopoietin-like 2 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008] 9 9 9 q34 100504236 100539652 - 128889449 128924865 - 129849628 129885044 - 1580863;6480464 18593905;8619474;10473614;22556334;17347581;16303743;15489334;15164053;12975309;12624729;12477932;9110174;20304962;17207965;19723494;22345152;22281496;21983347;22966088 23452 Q8NCH7;Q9UKU9 ABBA01043824;AF007150;AF125175;AK074726;AK075026;AK312876;AL356862;AL598400;AMYH01021722;AY358274;BC012368;CH471090;NM_012098 AAD55357;AAH12368;AAQ88641;ADQ32778;BAC11164;BAC11358;BAG35727;EAW87649;EAW87650;EAW87651;EAW87652;NP_036230;Q9UKU9 Hs.653262 1763143;1795356;2117154;5017845;5111056 ANGPTL2;ANGPTL2_1565;RH12756;RH66020;SHGC-146875 ARP2;HARP;MGC8889 OTTHUMP00000022159;OTTHUMP00000022160;angiopoietin-like protein 2;angiopoietin-related protein 2 APPROVED protein-coding ENSG00000136859 490 05415 605001 REVIEWED 1346260 ANGPTL3 angiopoietin-like 3 This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Feb 2013] 1 1 p31.3 62835775 62843768 + 63063187 63071180 + 1580863;1578347;1578346;2314234;6480464;7240710 12672813;12909640;15094378 18596051;18535744;18804459;18279878;18193044;18193043;18063851;16531751;16335952;15489334;15340161;12975309;12518032;12477932;10644446;12565906;11877390;17110602;19148283;19060906;19028676;17207965;22659251;20570916;20571754;20679960;20595410;20942659;19826106;20864672;19487539;19540497;19542565;19656773;19890028;20160193;20714348;20855565;20972250;19282754;20360639;20837471;23314748;21691831;22247256;22095935;22155345;21983347;20686565;22286219;22062970;22916037;16505486;17681148;19075393;19318355;19474742;22732211;22896670 27329 A0JLS0;B1ALJ0;Q9Y5C1 ABBA01074595;AF152562;AK289426;AK315304;AL138847;AMYH01000669;AY358273;AY569015;BC007059;BC058287;BG562555;BG562798;BG564770;CH471059;FJ515851;NG_028169;NG_033073;NM_014495 AAD34156;AAH07059;AAH58287;AAQ88640;AAS66984;ACS13743;ADQ32112;BAF82115;BAG37708;EAX06583;NP_055310;Q9Y5C1 Hs.209153 1337745;1670676;1797280;2166475 ANGPTL3_2597;D1S3572;D3S2407;RH46994 ANG-5;ANGPT5;ANL3;FHBL2 ANG-5;OTTHUMP00000010719;angiopoietin 5;angiopoietin-5;angiopoietin-like protein 3;angiopoietin-related protein 3 APPROVED protein-coding 491 10381 604774;605019 REVIEWED 6483645 ANHX anomalous homeobox 12 q24.33 133794898 133812422 - 11181995;14702039;16344560 647589 E9PGG2 ABBA01042527;AC226150;AK057223;AMYH01004923;CH471218;DB032853;NM_001191054 BAB71386;E9PGG2;EAW54785;NP_001177983 Hs.703008 1341842;1683074;1766153 D12S2341;RH99248;SHGC-149528 anomalous homeobox protein;hCG2007354;uncharacterized protein LOC647589 protein-coding ENSG00000227059 40024 VALIDATED 1344384 ANGPTL4 angiopoietin-like 4 This gene is a member of the angiopoietin/angiopoietin-like gene family and encodes a glycosylated, secreted protein with a fibrinogen C-terminal domain. This gene is induced under hypoxic conditions in endothelial cells and is the target of peroxisome proliferation activators. The encoded protein is a serum hormone directly involved in regulating glucose homeostasis, lipid metabolism, and insulin sensitivity and also acts as an apoptosis survival factor for vascular endothelial cells. The encoded protein may play a role in several cancers and it also has been shown to prevent the metastatic process by inhibiting vascular activity as well as tumor cell motility and invasiveness. Decreased expression of this protein has been associated with type 2 diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Jul 2008] 19 19 p13.3 8335011 8345257 + 8429011 8439257 + 1625353;1625354;1580863;1578349;1578348;6480464;7240710 17210919;15837923;12401877;15863837 22458843;22462789;10698685;11953136;12707035;18029348;19342599;19270337;19246456;19074989;19060906;19028676;19019854;18974381;18940399;18809343;18634015;18442626;18433990;18394990;17322881;17130448;17068295;17049073;16531751;16303743;16272564;16081640;16049480;15870027;15579652;15489334;15190076;14583458;12975309;12594814;12477932;12438262;12015030;11940516;11852057;10866690;22661548;22307217;8125298;20972945;20595396;19826106;20829508;18599063;19542565;19628874;19878569;19890028;20162021;19913121;20628086;20660728;17207965;20664963;20729546;20667978;20927337;21217681;21212665;20454689;21397862;22549372;21398697;22820186;21308352;21489049;21596930;21518214;21714923;22086875;21709421;21937683;22972030;23339868;21674552;21966511;23056264;22078753;20686565;21860410;22573825;22639947;22729570;23183503;22773878;23283507 51129 F5H0I2;M0QZ51;M0R0N8;M0R2X8;M0R369;M0R3A2;Q9Y5B3 AB056477;ABBA01010849;AC136469;AF153606;AF169312;AF202636;AK222489;AK222524;AK303269;AMYH01009441;AW954426;AY358275;BC023647;BG424907;CH471139;NG_012169;NM_001039667;NM_139314 AAD41088;AAF62868;AAG22490;AAH23647;AAQ88642;ADQ32223;BAB40692;BAD96209;BAD96244;BAG64351;EAW68930;EAW68931;NP_001034756;NP_647475;Q9BY76 Hs.9613 1681464;1754013;1794942;1797282;2118272;2126971;5019681 ANGPTL4_1969;D19S1090;G32455;PMC85983P1;RH11623;RH67144;SHGC-132057 ANGPTL2;ARP4;FIAF;HFARP;NL2;PGAR;pp1158 PPARG angiopoietin related protein;angiopoietin-like protein 4;angiopoietin-related protein 4;fasting-induced adipose factor;hepatic angiopoietin-related protein;hepatic fibrinogen/angiopoietin-related protein;peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein APPROVED protein-coding ENSG00000167772 16039 16173 605910 REVIEWED 1318779 ANK3 ankyrin 3, node of Ranvier (ankyrin G) Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 10 10 q21 61458165 61819494 - 61786056 62493284 - 734573;1580863;6480464;6767288;6767290;6767305 7665168;19306853;10915577 15611082;19088739;18768923;18711365;18635543;18163421;17620337;17373700;17074766;17033732;16775201;16377635;15931389;15823567;15231748;14757759;14702039;12805291;12507143;12036953;11997395;11950515;11807096;11781319;8666667;7836469;10893266;10907644;14761957;22688191;21438140;14694156;16385451;20185149;20351715;20379614;20386566;20936779;20636642;20877300;21037240;15342556;21676128;22986903;23129772;21395576;21304963;21767209;21893642;21972176;22118674;22647524;21139048;21702894;18180363;22180603;21926972;21926974;22182935;22328486;23109352;17370265;22865819;23453885;22498896 288 B1AQT1;D6RBY7;D6RF31;D6RFK6;D6RHY3;H0Y3A4;H0Y8Z4;H0Y951;H0Y9E9;H0YA66;H0YAH5;Q12955;Q8NAK2 AB209308;ABBA01019458;ABBA01019459;ABBA01019460;ABBA01019461;ABBA01019462;ABBA01019463;ABBA01019464;AC022390;AC023904;AK092361;AK092527;AK124230;AK126851;AK128784;AK292927;AK295661;AL136710;AL359267;AL359377;AL391707;AL592430;AL607065;AMYH01002767;AW451432;BG427669;BP216034;BP245303;BX537917;BX648574;CH471083;NG_029917;NM_001149;NM_001204403;NM_001204404;NM_020987;U13616 AAA64834;ACE86862;ACE87550;BAC03910;BAC86721;BAD92545;BAF85616;BAG52538;BAG54022;BAG58523;CAB66645;CAD97900;CAI56716;EAW54199;EAW54200;EAW54201;EAW54202;NP_001140;NP_001191332;NP_001191333;NP_066267;Q12955 Hs.499725 1653049;1666446;1687572;1700520;1727541;1771653;1781878;1787518;1795358;1850045;2110881;2116790;2118990;2141123;2144123;2150169;2156712;2177184;2180377;2184186;2190501;5019679;5024761;5491936 A009D23;ANK3;ANK3_1373;D10S250E;EST12B1;G15868;G17407;G32447;G63028;RH103881;RH15705;RH15734;RH36905;RH64832;RH67964;RH93542;SHGC-105138;SHGC-12959;SHGC-155440;SHGC-2729;SHGC-30886;SHGC-34120;WI-11051;WI-15992 ANKYRIN-G;FLJ45464 ANK-3;OTTHUMP00000019653;OTTHUMP00000019656;OTTHUMP00000217458;OTTHUMP00000217575;ankyrin G119;ankyrin-3;ankyrin-3, node of Ranvier APPROVED protein-coding ENSG00000151150 494 02715 600465 REVIEWED 1322443 ANGPTL6 angiopoietin-like 6 19 19 19 p13.2 10098503 10108914 - 10064013 10074425 - 10203013 10213425 - 6480464 12871997;18464913;16806062;16335952;14764539;12975309;21460784;20673930;19447061;12477932;23070965;23400010 83854 K7EKF6;Q8NI99 AB054064;ABBA01029947;ABBA01029948;AC020931;AF230330;AMYH01009467;AY358276;BC142632;CH471106;NM_031917 AAI42633;AAK06404;AAQ88643;BAB91248;EAW84071;EAW84072;NP_114123;Q8NI99 Hs.712850 1650218;1777662;2218724 ANGPTL6__4301;D19S1125;RH11710 AGF;ARP5 angiopoietin-like protein 6;angiopoietin-related growth factor;angiopoietin-related protein 5;angiopoietin-related protein 6 protein-coding ENSG00000130812 23140 12453 609336 VALIDATED 2301773 ANKDD1B ankyrin repeat and death domain containing 1B 5 5 5 q13.3 70800866 70858526 + 74934498 75001205 + 74916140 74966865 + 15372022;20379614 728780 A6NHY2 ABBA01061945;ABBA01061946;AC010245;AK307154;AMYH01015409;AMYH01015410;AMYH01015411;CH471084;NM_001271529;NM_001276713 A6NHY2;EAW95766;NP_001258458;NP_001263642 Hs.370455 1728963;1773239 D13Gor3;RH46462 OTTHUMP00000231493;ankyrin repeat and death domain containing 1B;ankyrin repeat and death domain-containing protein 1B;ankyrin repeat and death domain-containing protein ENSP00000345065 protein-coding 32525 VALIDATED 1350833 ANGPTL7 angiopoietin-like 7 1 1 1 p36 10361738 10368376 + 11171985 11178625 + 11249398 11256038 + 1580863;6480464 8026862;18421092;16710414;15489334;15340161;12975309;12477932;11682471;11426320;9727400;8144038;21199193;21697133;21832049;12107410;17695521 10218 F1T0A6;O43827 AB593026;AB593027;ABBA01003045;AJ300188;AK313716;AL049653;AL391561;AMYH01000252;AY358301;BC001881;BT009802;CA391009;CH471130;DQ012507;NG_033239;NM_021146;Y16132 AAH01881;AAP88804;AAQ88668;AAY22173;ABM83481;ABM86692;BAG36459;BAJ83980;BAJ83981;CAA76078;CAC15571;EAW71685;NP_066969;O43827 Hs.146559 2130327 SHGC-74210 AngX;CDT6;RP4-647M16.2;dJ647M16.1 OTTHUMP00000001986;angiopoietin-like factor (CDT6);angiopoietin-like protein 7;angiopoietin-related protein 7;cornea-derived transcript 6 protein protein-coding ENSG00000171819 24078 10818 VALIDATED 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 17 17 17 q22 50692552 51021724 + 51585835 51915006 + 54230836 54560007 + 6480464 18391950;14702039;20379614;21668797 162282 H3BM45;I3L0N6;Q8N957 ABBA01041297;ABBA01041298;ABBA01041299;ABBA01041300;ABBA01041301;ABBA01041302;AC006600;AC006925;AC015724;AK095654;AMYH01008491;CH471109;NM_153228 BAC04599;EAW94530;EAW94531;EAW94532;NP_694960;Q8N957 Hs.673040 1335357;1708118;1713481;1753935;2135784 D17S669;D17S913;RH120224;SHGC-108145;SHGC-81459 FLJ38335 OTTHUMP00000207114;ankyrin repeat and fibronectin type-III domain-containing protein 1 protein-coding ENSG00000153930 26766 08238 VALIDATED 1603564 ANKAR ankyrin and armadillo repeat containing 2 2 2 q32.2 184135616 184206285 + 190249675 190319615 + 190540711 190611376 + 6480464 15110750;14702039;12477932;21565611;23251661 150709 E7EWS1;J3KQB7;Q70AK8;Q7Z5J8 ABBA01062379;ABBA01062380;AC012488;AC013468;AJ549812;AJ605761;AK027836;AK058144;AK098551;AK126073;AK307328;AMYH01011344;BC037215;BC044907;BC047413;CH471058;NM_144708 AAH44907;AAH47413;BAB71684;BAC05330;BAC86425;CAD71147;CAE53955;EAX10895;EAX10897;NP_653309;Q7Z5J8 Hs.60772;Hs.655700 1645415;1685864;1856971 RH11855;RH92442;SHGC-52566 FLJ25415 OTTHUMP00000205603;OTTHUMP00000205619;ankyrin and armadillo repeat-containing protein protein-coding ENSG00000151687 26350 609803 VALIDATED 1604469 ANKDD1A ankyrin repeat and death domain containing 1A 15 15 15 q22.31 42082165 42129108 + 62991154 63038095 + 65204101 65251042 + 6480464 12477932;22139419 348094 D6RD28;E9PHA0;Q495B1;Q6PI29;Q8TAJ8 ABBA01038865;AC069368;AK075298;AK098736;AK307698;AMYH01006714;BC027350;BC042002;BC047571;BC047607;BC101273;BC101274;BC101275;BC101276;BC110610;CH471082;DR004550;NM_182703 AAH27350;AAH47607;AAI01274;AAI01275;AAI01276;AAI01277;BAC05399;BAC11532;EAW77702;EAW77703;NP_874362;Q495B1 Hs.207157 1673870;1673872;1738961;1767629;2133937;5020948;5109281 A008V12;D15S553;D15S859;D1S1425;G35510;RH44574;SHGC-33583 FLJ18078;FLJ25870;MGC120305;MGC120306;MGC120307 OTTHUMP00000164083;OTTHUMP00000164131;OTTHUMP00000220561;ankyrin repeat and death domain-containing protein 1A protein-coding ENSG00000166839 28002 14178 VALIDATED 1320055 ANK1 ankyrin 1, erythrocytic Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008] 8 8 p11.1 41629901 41774297 - 41510744 41754280 - 1599109;1599110;1578350;1580863;6480464;7240710 9202331;9378703;8640229 11427698;9430667;1833445;12409278;379653;18987618;18768923;17720975;17716929;16762928;16718373;15489334;15051494;15040428;17520478;17128827;12719424;12631729;12527750;12477932;12456646;12444090;12130521;12019270;11372755;11222639;10910934;10893266;9804856;9628825;9587054;9235914;9024692;8703812;8681137;8385102;8227202;8125298;7505012;6449514;2971657;2970468;2968981;2141335;2137557;1689849;492324;22573887;21177872;16580865;16962094;20379614;16597699;20479128;17207965;15929114;20858683;21099109;21071415;21493712;22968456;22348230;12543979;22424883;22456796;8159688;23013433;23457408 286 B3KX39;C9JN86;H0YAY8;H0YBS0;Q6PK32;Q8N604 AA404587;AB209418;ABBA01021136;ABBA01021137;ABBA01021138;AC027702;AC113133;AI167814;AI684839;AK126647;AK129864;AK223578;AMYH01018674;BC007930;BC014467;BC030957;BC117121;BX647936;CH471080;F28948;M28880;N63745;NG_012820;NM_000037;NM_001142445;NM_001142446;NM_020475;NM_020476;NM_020477;NM_020478;NM_020480;S82671;U49691;U50092;U50133;X16609 AAA51732;AAB46776;AAB47804;AAB47805;AAH07930;AAH30957;AAI17122;AAI56402;ADQ32237;BAD92655;BAD97298;BAG54351;CAA34610;CAA34611;EAW63241;EAW63242;EAW63243;EAW63244;EAW63245;EAW63246;EAW63247;EAW63248;EAW63249;EAW63250;NP_000028;NP_001135917;NP_001135918;NP_065208;NP_065209;NP_065210;NP_065211;NP_065213;P16157 Hs.654438;Hs.667377;Hs.708861 1666738;1670319;1675017;1681187;1689067;1694670;1716737;1721389;1730791;1754039;1761021;1855025;1855260;2115674;2126501;2150605;2152733;2156708;2165580;2180189;7184748 D8S2039;D8S2070;D8S2329;D8S311;D8S329;G19345;G43516;G59696;GDB:178523;RH121660;RH45454;RH46517;RH69660;RH79857;RH91316;SHGC-12309;SHGC-132081;SHGC-144984;STS-W88737;WI-11722 ANK;SPH1;SPH2 ANK-1;OTTHUMP00000196860;OTTHUMP00000196861;OTTHUMP00000196862;OTTHUMP00000196863;OTTHUMP00000196864;OTTHUMP00000225819;OTTHUMP00000225820;OTTHUMP00000225822;ankyrin-1;ankyrin-R;erythrocyte ankyrin APPROVED protein-coding ENSG00000029534 492 01693 182900;612641 REVIEWED 1317291 ANK2 ankyrin 2, neuronal This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011] 4 4 q25-q27 114190319 114524337 + 113739239 114304896 + 1599109;1599110;734572;1599114;1599116;6480464;6767284;7240710 9202331;9378703;12571597;15178757;12949909;21859974 20471030;15262991;15611082;18832177;18790697;18782775;18303017;18275062;18052691;17940615;17474147;17242276;17178715;17161064;17081983;16864073;16292983;16253912;15851119;15310273;15146197;15075330;14702039;14657231;14593108;19098452;12527750;12477932;11781319;11449000;11149946;10579720;9832558;8253844;7485162;1833308;1830053;2968981;15647482;19109891;20031550;20080650;20332099;20379614;16597699;19913121;20628086;20573981;22861190;23569209;17456239;8619474;9110174;17043677;21139048;21890473;20682791;22219177;22778271 287 B7Z651;D6R9U4;D6RHC5;D6RHE1;D6RIY9;E9PCH6;E9PHW9;H0Y8X8;H0Y8Y2;H0Y931;H0Y933;H0YAG3;I6L894;Q01484 ABBA01063822;ABBA01063823;ABBA01063824;ABBA01063825;ABBA01063826;ABBA01063827;ABBA01063828;ABBA01063829;ABBA01063830;ABBA01063831;ABBA01063832;AC004057;AC017007;AC093617;AC093879;AC093900;AC108042;AF131823;AK021894;AK095596;AK128049;AK294720;AK299767;AK299815;AK299893;AK307601;AL706912;AMYH01014471;AMYH01014472;AMYH01014473;AMYH01014474;BC017986;BC047498;BC125235;BC125236;BQ716903;BQ890406;BX537758;BX538132;BX538239;CH471057;CN259048;DQ925692;DQ925693;M37123;NG_009006;NM_001127493;NM_001148;NM_020977;X56957;X56958;Z26634 AAA62828;AAI25236;AAI25237;ABL59919;ABL59920;BAH11860;BAH13122;BAH13137;BAH13164;CAA40278;CAA40279;CAB42644;CAD97827;CAD98033;CAD98077;EAX06287;EAX06288;EAX06289;EAX06290;EAX06291;EAX06292;NP_001120965;NP_001139;NP_066187;Q01484 Hs.620557 1339569;1649045;1652819;1656649;1660795;1661781;1668588;1674549;1677342;1678983;1696046;1704590;1705846;1707732;1708502;1710846;1714523;1754333;1765237;1775651;1777565;1858070;2136983;2177103;2217010;5022200;5022651 AFM186xb4;ANK2_3170;D11S2921;D4S2309;D4S2542E;L18426;NIB1562;RH119774;SHGC-11962;SHGC-132360;SHGC-14389;SHGC-148725;SHGC-23852;SHGC-23907;SHGC-24748;SHGC-50779;SHGC-59287;SHGC-59553;SHGC-67324;SHGC-79494;SHGC-81181;SHGC-82082;SHGC-83104;SHGC-83197;SHGC-84192;WI-19148;WIAF-2193 ANK-2;DKFZp686M09125;DKFZp686P0948;FLJ11832;FLJ38277;FLJ46169;LQT4;brank-2 ANK-2;OTTHUMP00000163833;OTTHUMP00000163834;OTTHUMP00000220392;OTTHUMP00000220393;OTTHUMP00000220397;OTTHUMP00000220398;OTTHUMP00000231464;ankyrin B;ankyrin, brain;ankyrin, nonerythroid;ankyrin-2;ankyrin-2, nonerythrocytic;brain ankyrin;brank-2;non-erythroid ankyrin APPROVED protein-coding ENSG00000145362 493 00110 106410;600919 REVIEWED 1353837 ANKL1 ankyrin-like 1 65976 14588 1312470 ANKEF1 ankyrin repeat and EF-hand domain containing 1 20 20 20 p12.2 10085809 10107527 + 9963697 9985407 + 10015697 10037407 + 1580863;6480464 14702039;12477932;11780052;20211142;21906983;17142250 63926 Q8TCA8;Q9NU02 ABBA01053932;AK025322;AK074463;AK097689;AL109754;AMYH01011708;BC011591;BC022878;BC028189;BI562273;BI826033;CH471133;HI573924;HI573926;NM_022096;NM_198798 AAH22878;ABM81831;ABM84984;BAB15111;BAG53512;CBX47451;CBX47452;EAX10355;NP_071379;NP_942093;Q9NU02 Hs.70903 1339840;1754073;2114026;2115015 AB072772;D20S162;RH47929;SHGC-132109 ANKRD5;FLJ21669;dJ839B4.6 OTTHUMP00000030262;OTTHUMP00000030263;ankyrin repeat and EF-hand domain-containing protein 1;ankyrin repeat domain 5;ankyrin repeat domain-containing protein 5 APPROVED protein-coding ENSG00000132623 15803 10652 VALIDATED 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009] 11 11 q23.2 112763723 112776350 + 113258513 113271140 + 1580863;6480464 19373123;19339270;19321766;19291230;19283474;19046929;19025655;18927395;18926547;18828801;18698520;18690118;18669994;18354387;18259088;18075468;18063936;18058350;18058343;18037170;17850642;17767146;17761687;17671965;17669630;17453061;17446975;17189962;17120049;17085484;17069991;16869231;16032443;16026865;15939106;15812318;15545020;15542731;15146457;21352928;14741327;12762588;12605103;12555236;12471243;12151753;19512960;19692168;19717274;19897017;19900188;19914044;20133381;20138949;20180986;20199723;20410875;20734064;21041608;20577142;22382052;21936764;21168125;20845092;21070510;21510979;21540761;21261454;22232965;23383291;22728571;23203481;23303482;23590110;22698582;22967772 255239 H0YH32;Q8NFD2 ABBA01039789;AF487542;AF525298;AJ541797;AMYH01004038;AP002840;CH471065;EF444946;NG_012976;NM_178510 AAI56147;AAI72460;AAM91924;AAQ09005;ACA05931;CAD62569;EAW67216;EAW67217;NP_848605;Q8NFD2 Hs.448473 PKK2 OTTHUMP00000236610;X-kinase;ankyrin repeat and protein kinase domain-containing protein 1;protein kinase PKK2;sgK288;sugen kinase 288 APPROVED protein-coding ENSG00000170209 21027 10580 608774 REVIEWED 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009] 5 5 5 q31.3 135858059 136005914 + 139761613 139909347 + 139781399 139929163 + 6480464 16344560;14743216;14557257;10470851;18029348;12477932;16297570;20967262;20936779;22505724 404734 H7C0V5;Q9HA95 AB029008;ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF521883;AK125734;AMYH01015657;AMYH01015658;AMYH01015659;BC144623;CH471062;DA859680;NM_020690 AAI72416;AAO14944;BAA83037;EAW62055;NP_065741 Hs.594084 1337863;1651430;1666798;1682904;1698632;1735456;1773378;1773380;1780274;1792176;2107035;2120754;2138242;2161727;2173232;5106862;7184920 A001T37;D5S1582E;D5S2116;EIF4EBP3_7925;G19635;PMC138568P1;RH102873;RH66185;RH67791;RH67899;RH69856;RH78625;RH93300;SHGC-150281;STS-AA019993;WI-14182 MASK-BP3;MASK-BP3arf ANKHD1-EIF4EBP3 protein;MASK-4E-BP3 alternate reading frame;OTTHUMP00000159882;OTTHUMP00000174758;OTTHUMP00000232174 APPROVED protein-coding ENSG00000131503;ENSG00000254996 33530 17468 REVIEWED 1320021 ANKFY1 ankyrin repeat and FYVE domain containing 1 This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012] 17 17 17 p13.3 4078241 4178752 - 4013414 4114023 - 4066665 4167274 - 6480464 17273843;16344560;15328530;14702039;12477932;12168954;10940552;10574462;10092534;8125298;18029348;20562859;19615732;23184937;22863883;21139048;21890473;22284051;21628590;21145461;22053931;22505724;22952844 51479 B3KPZ0;I3L1Z9;I3L3P8;K7EPT2;Q9P2R3 AB033081;AB037360;AB073897;ABBA01054755;ABBA01054756;ABBA01054757;ABBA01054758;ABBA01054759;AC087292;AC087742;AK025483;AK025717;AK025960;AK057047;AK074324;AK091008;AK225170;AK292930;AK302712;AL706226;AMYH01008035;BC052308;BC060812;CH471108;CR933717;DA856905;NM_001257999;NM_016376;NR_047571 AAH52308;AAI48356;AAI52992;BAA86569;BAA90300;BAF85619;BAG51852;BAG63933;CAI46247;EAW90448;EAW90449;EAW90450;NP_001244928;NP_057460;Q9P2R3 Hs.696087 1671472;1673031;1699004;1708520;1724973;1733392;5019591;5092432;5092444;5092462 D14S567;G54287;G54294;G54297;G54313;RH103073;RH118775;SHGC-36655;SHGC-85035;WI-12317 ANKHZN;BTBD23;DKFZp686M19106;KIAA1255;ZFYVE14 Rabankyrin-5;ankyrin repeat and FYVE domain-containing protein 1;ankyrin repeat hooked to zinc finger motif;ankyrin repeats hooked to a zinc finger motif APPROVED protein-coding ENSG00000185722 20763 09717 607927 REVIEWED 1606539 ANKHD1 ankyrin repeat and KH domain containing 1 This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010] 5 5 5 q31.3 135858059 135996193 + 139761613 139899625 + 139781399 139919441 + 6480464 12812986;16956752;16713569;16297570;16098192;14743216;14702039;14557257;12477932;11230166;10470851;16169070;22586326;21145461;18029348;16344560;21903422;22190034;22505724;23142581 54882 D6RHC4;E9PDP5;F6WFL0;H0Y472;H0Y4P6;H0Y785;H0Y7Y3;H3BLS9;H7C2E1;H7C2F5;Q9HA95 ABBA01026426;ABBA01026427;ABBA01026428;ABBA01026429;ABBA01026430;ABBA01026431;ABBA01026432;ABBA01026433;AC008438;AC011399;AF217646;AF258557;AF521882;AI675547;AI870943;AK000295;AK000904;AK022041;AK022433;AK024056;AK024189;AK074173;AK098574;AL136943;AMYH01015657;AMYH01015658;AMYH01015659;AY070436;BC004457;BC009420;BC009909;BC040231;BC117677;BC117678;BC127127;BC150486;CH471062;DA509209;NM_001197030;NM_017747;NM_017978;NM_024668 AAG23760;AAG41779;AAH04457;AAH09420;AAH09909;AAH40231;AAI17678;AAI17679;AAI27128;AAI50487;AAI72415;AAL65263;AAO14943;ADZ16059;BAA91063;BAA91417;BAB13958;BAB14849;BAB84999;CAB66877;EAW62057;EAW62058;EAW62059;NP_001183959;NP_060217;NP_060448;NP_078944;Q8IWZ3 Hs.594084 1337863;1666798;1682904;1698632;1780274;2120754;2138242;2173232;5014039;5015404;5016478;5022463;5037552;5106862;7184920 D22S1584;D3S1673;D5S2116;D8S2279;GDB:434012;L17705;RH102873;RH66185;RH67791;RH67899;RH69856;RH93300;SHGC-150281;STS-AA019993 MASK;PP2500;VBARP HIV-1 Vpr-binding ankyrin repeat protein;OTTHUMP00000159882;OTTHUMP00000159883;OTTHUMP00000174758;OTTHUMP00000174759;OTTHUMP00000174760;VPR-binding ankyrin repeat protein;ankyrin repeat and KH domain-containing protein 1;hMASK;multiple ankyrin repeats single KH domain;multiple ankyrin repeats, single KH-domain homolog APPROVED protein-coding ENSG00000131503 24714 16489 610500 REVIEWED 734405 ANKH ANKH inorganic pyrophosphate transport regulator This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008] 5 5 p15.1 14762019 14924876 - 14704909 14871887 - 734569;734571;734570;634632;734964;1580863;6480464;7240710 10894769;11326272;12297987;12861042;11326338 18821330;18299954;17950726;17563703;17403715;17186460;17147692;16724232;16344560;15818664;15780964;15489334;15474385;15461680;14702039;14558096;13130483;12975309;12707589;12632434;12477932;12297989;12185249;10997877;10610710;9915952;9382103;8528213;8125298;22437419;19369455;19419319;19449425;19888898;20231843;20379614;20646567;20358596;20943778;20301634;21149338;21163940;21906983;22150416;21963094;21988832;22003394;22089454;22647861;21811784 56172 B3KMG4;D6RGI5;Q9HCJ1 AB046801;ABBA01020638;ABBA01020639;ABBA01020640;AC010491;AC016575;AC025456;AF274753;AK001799;AK054966;AK130676;AK222631;AK315012;AMYH01014922;AMYH01014923;AY358503;BC009835;BC014526;BQ008340;BU193060;CH471102;DA126651;NG_008273;NM_054027 AAF88039;AAH09835;AAH14526;AAQ88867;ABM83514;ABM86732;BAB13407;BAD96351;BAG37504;BAG50976;EAX08034;EAX08035;NP_473368;Q9HCJ1 Hs.156727 1651183;1664833;1700546;1701356;1719281;1735532;1768585;2129384;2148542;2154843;2155027;2168550;2170606;5015861;5092986;7185938 A004S29;A009D34;D10S16;D5S1665E;D5S2663;G32452;IB363;RH103894;RH104308;RH123363;RH12671;RH16357;SHGC-35145;WI-15017;WI-18203 ANK;CCAL2;CMDJ;CPPDD;FLJ27166;HANK;MANK OTTHUMP00000115641;ankylosis, progressive homolog;progressive ankylosis;progressive ankylosis protein homolog APPROVED protein-coding ENSG00000154122 15492 05509 118600;123000;605145 REVIEWED 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 19 19 19 p13.11 17294193 17300193 + 17253454 17259454 + 17392454 17398454 + 6480464 16344560;15565891;14702039;12477932;20852631;20852633;20237496;17549794;21890473;21906983;22399800;22976474 126549 B4E124;J3KPY6;M0QX15;M0R002;Q8NAG6 ABBA01051191;AC010463;AK092706;AK096688;AK299977;AK303628;AMYH01009570;BC119015;BC125274;CH471106;DA900798;DC410789;EU184013;NM_001278443;NM_001278444;NM_001278445;NM_152363;NR_103530 AAI25275;ABW73565;BAC03953;BAC04840;BAG61800;BAG64636;EAW84586;EAW84587;EAW84588;NP_001265372;NP_001265373;NP_001265374;NP_689576;Q8NAG6 Hs.721610 1339866;5023733;5024761;5127905 AU048745;D19S410;RH36905;SHGC-152141 ANKRD41;FLJ39369;LEM3;LEMD6 LEM domain containing 6;LEM-domain containing 3;LEM-domain containing protein 3;OTTHUMP00000198604;OTTHUMP00000198605;OTTHUMP00000201269;ankyrin repeat and LEM domain-containing protein 1;ankyrin repeat domain 41;ankyrin repeat domain-containing protein 41 protein-coding ENSG00000160117 26812 08801 VALIDATED 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 7 7 7 q21.2 86580099 86735226 + 91713484 91868634 + 91875548 92030698 + 1580863;6480464 17081983;15489334;14702039;12477932;10718198;20379614;16196087;19240029;21139048;21906983 54467 C9JZ63;H7C0S0;H7C2L9;H7C2V2;Q9P2G1 AACC02000014;AB037807;ABBA01045804;ABBA01045805;AC000118;AC000120;AC004539;AC007566;AK001179;AK025475;AK057685;AL137349;AMYH01017690;AMYH01017691;BC031483;BC041643;BC063861;BC073893;BC094865;CH236949;CH471091;NM_019004 AAH31483;AAH63861;AAH73893;AAH94865;BAA91537;BAA92624;CAB70704;EAW76852;NP_061877;Q9P2G1 Hs.741328 1649333;1686234;1698980;1735712;1775519;2122061;2125158;2133714;2142494;2156927;2179153 D7S2094E;D7S2167E;D7S2796;D7S2921;D7S548E;G17116;G31812;RH103059;RH80670;SHGC-56136;SHGC-56138 DKFZp434A0225;FLJ33123;KIAA1386 OTTHUMP00000208793;ankyrin repeat and IBR domain-containing protein 1 protein-coding ENSG00000001629 22215 VALIDATED 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 7 7 7 p21 16619158 16665198 - 16605937 16651923 - 16639401 16685442 - 737633;1580863;6480464 12477932 15489334;14702039;12690205;21044950;16344560;8889548;22863883;21906983 57037 F8WB95;F8WDN1;G3V0G5;Q8IV38 AACC02000008;ABBA01056630;ABBA01056631;ABBA01056632;AC005014;AC073201;AK001389;AK001740;AK023704;AL050390;AMYH01017092;BC015453;BC035353;BU674794;CH236948;CH471073;DA210027;NM_020319 AAH15453;AAH35353;ACE86972;ACE87662;BAG50900;BAG51218;CAH56419;EAL24286;EAW93671;EAW93672;EAW93673;EAW93674;NP_064715;Q8IV38 Hs.157378 1700910;2123953;2141831 D7S2088E;RH104082;SHGC-17250 DKFZp564O043;ZMYND20 OTTHUMP00000116019;OTTHUMP00000201684;ankyrin repeat and MYND domain-containing protein 2 protein-coding ENSG00000106524 25370 12454 VALIDATED 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 12 12 12 q24.33 133002795 133037583 - 131812327 131848524 - 133302254 133338451 - 6480464 22542470;22770216;18029348;17081983;16964243;16344560;15489334;14702039;12477932;9734811;19156129;18624398;21906983 23141 F5H1D4;F5H1E7;F5H2H5;F5H417;F5H6J0;Q86XL3 AB014592;ABBA01012370;ABBA01012371;ABBA01012372;ABBA01042548;ABBA01042549;ABBA01042550;ABBA01042551;AC135586;AC136467;AK024061;AK025933;AK093451;AK293028;AMYH01004921;BC001530;BC025347;BC043157;BC062373;BC082962;DA757330;DB453975;NM_015114 AAH01530;AAH25347;AAH43157;AAH62373;AAH82962;BAA31667;BAF85717;BAG51259;BAG52720;NP_055929;Q86XL3 Hs.654628 1340726;1722945;2119242;2173388;2173390;2178195 A005X42;D12S1638;G20583;G60570;RH44489;RH78044 FLJ22280;FLJ36132;KIAA0692;LEMD7;Lem4 LEM domain containing 7;LEM domain-containing protein 4;OTTHUMP00000237681;OTTHUMP00000237682;ankyrin repeat and LEM domain-containing protein 2 protein-coding ENSG00000176915 29101 VALIDATED 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 2 2 2 q37.3 235090758 235169607 - 241067512 241146078 - 241418839 241497405 - 1580863;6480464 15489334;14702039;12477932;8125298;20379614;22139419 51281 B5MBY4;C9J176;C9J5V7;C9JGS7;C9JZ56;F5H558;H7BYI0;H7BYZ8;H7C254;J3KPY5;J3KQ07;J3KQ21;Q6GPI0;Q9P2S6 AB034636;ABBA01048871;ABBA01048872;ABBA01048873;AC124862;AK000506;AK056511;AK125881;AK225534;AK296714;AK314534;AL136618;AL833866;AMYH01011622;BC033495;BC036111;BC041887;BC073146;CH471063;CR936600;CR936759;NM_016552;NM_017844 AAH33495;AAH73146;AAX88942;ACE86856;ACE86879;ACE87543;BAA91213;BAA92844;BAG37125;BAH12418;CAB66553;CAD38724;CAI56748;EAW71187;EAW71188;EAW71189;EAW71190;EAW71191;NP_057636;NP_060314;Q9P2S6 Hs.656615 1781322;1781324;2185056;5015861;5037552;5109281;7185938 D10S16;D1S1425;D2S1378;D8S2279;G31178;G31179 DKFZp686D20155;DKFZp686L21237;FLJ20499;ZMYND13 OTTHUMP00000164505;OTTHUMP00000164506;OTTHUMP00000201484;OTTHUMP00000201487;OTTHUMP00000201488;OTTHUMP00000201489;ankyrin repeat and MYND domain-containing protein 1;testis specific ankyrin-like protein 1;testis-specific ankyrin-like protein 1;zinc finger MYND domain-containing protein 13 protein-coding ENSG00000144504 20987 10646 VALIDATED 1321439 ANKRD10 ankyrin repeat domain 10 13 13 13 q34 92377096 92413637 - 110328888 110365417 - 111530887 111567416 - 6480464 14702039;12477932;12938929;19322201 55608 Q8IUW1;Q9NXR5 ABBA01026990;AK000100;AK000111;AK026017;AK094222;AK095763;AK096083;AK123341;AK125100;AL157875;AL442128;AMYH01005379;BC001727;BC039715;BX641022;BX648721;CH471085;NM_017664 AAH01727;AAH39715;BAA90945;BAA90951;BAB15323;BAG53125;BAG53208;BAG53891;BAG54142;CAH56123;EAX09134;EAX09135;EAX09136;NP_060134;Q9NXR5 Hs.525163 1651795;1667786;1738435;1753941;1852825;1857264;2110957;2119676;2131607;2178229;2183709;2187036 D13S229E;D13S851E;G20562;RH45174;RH71139;SGC30179;SHGC-34204;SHGC-89345;STS-AA007174;STS-N30312;UniSTS:153217;WI-22180 DKFZp686B07190;FLJ20093 OTTHUMP00000018708;ankyrin repeat domain-containing protein 10 protein-coding ENSG00000088448 20265 12455 VALIDATED 1347651 ANKRA2 ankyrin repeat, family A (RFXANK-like), 2 5 5 5 q12-q13 68743316 68756798 - 72883919 72897254 - 72848025 72861511 - 1580863;6480464 11095640;15964851;15489334;14702039;12477932;10965114;17949687;15280358;21832049;22318606;22649097 57763 D6RBK8;Q9H9E1 ABBA01061920;AC010279;AF251051;AF314032;AK022876;AL558295;AMYH01015406;BC012917;CH471084;DB543368;NM_023039 AAH12917;AAK01621;AAK34941;ABM82477;ABM85664;BAB14288;EAW95729;EAW95730;NP_075526;Q9H9E1 Hs.239154 1655844;1797070;2122679;2219774 ANKRA2;ANKRA2__4305;RH46202;RH78606 ANKRA OTTHUMP00000128195;RFXANK-like protein 2;ankyrin repeat family A protein 2 protein-coding ENSG00000164331 13208 12044 605787 VALIDATED 5130813 ANKRD10-IT1 ANKRD10 intronic transcript 1 (non-protein coding) 13 13 92397340 92399786 - 111551120 111554449 - 12477932;14702039 100505494 ABBA01026990;AK124233;AL442128;AMYH01005379;BC034813;XR_109155;XR_111397;XR_172017 Hs.655994 1667786;1667788;5015619 A005X01;D11S3114;G20562 FLJ42239 miscrna 39891 MODEL 1348352 ANKRD1 ankyrin repeat domain 1 (cardiac muscle) The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008] 10 10 q23.31 92661837 92671012 - 92671857 92681032 - 1578370;1580863;1578366;5133280;5133277;5133278;5133279;5133276;6480464 10904011;14516314;15632022;19525294;19299913;17610582;19608031 14583192;22892129;7730328;19608030;19589340;18980987;18656235;18273862;17239933;16450059;16344560;15805281;15698842;15489334;15164054;12679596;12524226;12477932;12054667;11309420;20602615;20628624;20599664;20164196;20860623;11139470;21139048;22185618;22085644;20301486 27063 Q05DQ9;Q15327 ABBA01021930;ABBA01021931;AF131884;AK290960;AL590622;AMYH01002938;AU139209;AY903446;BC005191;BC018667;CH471066;NG_023227;NM_014391;X83703 AAH05191;AAH18667;AAX23581;ABM83778;ABM87098;BAF83649;CAA58676;EAW50116;NP_055206;Q15327 Hs.448589 1690438;2109039;2123017;2159094;5491938;5492365 ANKRD1-1;ANKRD1_9516;Ankrd1;RH98636;SHGC-35401;STS-X83703 ALRP;C-193;CARP;CVARP;MCARP;bA320F15.2 OTTHUMP00000020084;ankyrin repeat domain-containing protein 1;cardiac ankyrin repeat protein;cytokine-inducible gene C-193 protein;cytokine-inducible nuclear protein;liver ankyrin repeat domain 1 APPROVED protein-coding ENSG00000148677 15819 10647 609599 REVIEWED 1349121 ANKRD14 ankyrin repeat domain 14 445575 23431 1320836 ANKRD12 ankyrin repeat domain 12 This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 18 18 18 p11.22 9066843 9169731 + 9126758 9275206 + 9136751 9285983 + 6480464 18377363;16582619;15342556;15184363;14702039;12477932;10048485;21145461;20379614;18029348 23253 B5MEA4;F5GYX2;J3KS53;J3KSU9;J3QRX3;Q6UB98 AB020681;AB073645;AB075493;ABBA01049947;ABBA01049948;ABBA01049949;AF147338;AF317425;AK000060;AK021430;AK024808;AK092124;AL834204;AMYH01008801;AMYH01008802;AP001033;AP005263;AY373757;AY533564;BC057225;BC070234;BM992146;BP230422;BP255733;CH471113;NM_001083625;NM_001204056;NM_015208;X80821 AAG38609;AAH57225;AAH70234;AAI56481;AAI72538;AAR25662;AAS45545;BAA74897;BAA90917;BAB15014;BAE45749;CAA56787;CAH56382;EAX01609;EAX01610;NP_001077094;NP_001190985;NP_056023;Q6UB98 Hs.464585 1675335;1683325;1685169;1691202;1694846;1696962;1698384;1700484;1707746;1708384;1711984;1739229;1756995;1779088;2124969;2179822;2186547;5021872;5022200;5022578 D18S1016;D18S1236;D1S1423;G44291;L18426;RH101953;RH102733;RH103863;RH118445;RH16223;RH75135;RH79631;RH94073;RH99046;SHGC-144352;SHGC-56504;SHGC-58356;SHGC-82089;SHGC-82874;sY3084 ANCO-2;ANCO1;FLJ20053;GAC-1;KIAA0874;Nbla00144 OTTHUMP00000162350;ankyrin repeat domain-containing protein 12;ankyrin repeat-containing cofactor 2;putative protein product of Nbla00144 APPROVED protein-coding ENSG00000101745 29135 12457 610616 REVIEWED 1315433 ANKRD11 ankyrin repeat domain 11 This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012] 16 16 16 q24.3 74399601 74619674 - 87861536 88084470 - 89334029 89556969 - 6480464 18840648;17521611;17081983;15489334;15184363;14702039;12477932;11483580;19920853;23502783;23752268;21782149;16344560;21139048;22538187 29123 H0Y2U4;H0Y3E3;H3BNU4;H3BVB8;Q6UB99 AB209186;ABBA01014150;ABBA01014151;ABBA01014152;ABBA01014153;ABBA01014154;ABBA01014155;ABBA01014156;AC092120;AC092123;AC137932;AF121775;AF130076;AK025964;AK057803;AK093762;AK125549;AK290994;AMYH01007928;AMYH01007929;AY131227;AY373756;AY533563;AY726574;BC007975;BC017437;BC025283;BC031340;BC041059;BC041585;BC052290;BC058001;BC069013;BQ957747;CH471184;DA172996;NG_032003;NM_001256182;NM_001256183;NM_013275;NR_045839 AAF24125;AAH41585;AAH58001;AAH69013;AAN07913;AAR25661;AAS45544;BAD92423;BAF83683;EAW66731;EAW66732;EAW66733;EAW66734;NP_001243111;NP_001243112;NP_037407;Q6UB99 Hs.335003;Hs.740440 1336575;1339964;1660633;1668203;1673048;1679325;1699382;1720567;1754325;1761807;1762643;1764745;1766629;2109037;2157314;2172433;2185581 ANKRD11_9583;D16S3026;D16S3121;G59238;HSC05E102;RH103278;RH65545;RH69658;RH80169;SHGC-132354;SHGC-145765;SHGC-146447;SHGC-148326;SHGC-149926;SHGC-60547;SHGC-60644;SHGC-64125 ANCO-1;ANCO1;KBGS;LZ16;T13 ankyrin repeat domain-containing protein 11;ankyrin repeat-containing cofactor 1;ankyrin repeat-containing protein 11;nasopharyngeal carcinoma susceptibility protein APPROVED protein-coding ENSG00000167522 21316 12456 148050;611192 REVIEWED 1318431 ANKRD13A ankyrin repeat domain 13A 12 12 12 q24.11 110061469 110101471 + 108921618 108961620 + 110437235 110477237 + 6480464 15489334;15231748;14702039;12477932;10508479;16196087;20639865;21903422;21987572;21139048;21890473;21906983;19322201;22298428;21963094;23000965;23319000;22053931;22190034;22505724 88455 B3KMT9;B3KT78;F8VXL4;F8VZZ3;H0YIN8;Q3ZTS7;Q8IZ07;Q9Y5A3 ABBA01005084;ABBA01005085;AC007546;AC084876;AF064604;AF155103;AK022658;AK025261;AK095130;AK130522;AK293232;AK302535;AK308923;AMYH01004738;AY364251;BC032833;BC057817;CH471054;NM_033121 AAC17109;AAD42869;AAH32833;AAQ76810;BAG51101;BAG52990;BAG56771;BAG63807;EAW97891;EAW97892;EAW97893;NP_149112;Q8IZ07 Hs.528703 1645417;1645775;2146324;2169768;2181302;5014019;5024761 D5S2354;RH36905;RH44722;SGC30598;SGC33766;SHGC-53833;WI-20847 ANKRD13;NY-REN-25 NY-REN-25 antigen;OTTHUMP00000240752;ankyrin repeat domain 13;ankyrin repeat domain-containing protein 13A protein-coding ENSG00000076513 21268 12458 615123 VALIDATED 1606740 ANKRD13B ankyrin repeat domain 13B 17 17 17 q11.2 24781393 24802648 + 24944653 24965905 + 27920527 27941779 + 6480464 16344560;15489334;14702039;12477932;16169070;22298428;21139048;21890473;20881960 124930 B3KS27;K7EKP0;K7ENT0;Q86YJ7 ABBA01015012;ABBA01015013;AC104564;AK000425;AK092673;AK097716;AK098421;AMYH01008292;AMYH01008293;BC032554;BC062597;BG029526;CH471159;DA445860;NM_152345 AAH32554;AAH62597;BAC05148;BAC05304;BAG52589;EAW51199;EAW51200;EAW51201;EAW51202;EAW51203;NP_689558;Q86YJ7 Hs.662164 1736694;2174115 D17S1512E;RH46400 FLJ20418;FLJ25555 OTTHUMP00000163607;OTTHUMP00000163608;ankyrin repeat domain-containing protein 13B protein-coding ENSG00000198720 26363 08694 615124 VALIDATED 1605234 ANKRD13D ankyrin repeat domain 13 family, member D 11 11 11 q13.2 64368966 64402594 + 66813395 66826530 + 67056762 67069955 + 6480464 17081983;16713569;15489334;14702039;12477932;19913121;20628086;16344560;21832049;21987572;19953087;21139048;21890473;22298428 338692 Q6ZTN6 ABBA01024041;AK027313;AK057566;AK057681;AK091614;AK096277;AK124721;AK126438;AMYH01003742;AMYH01003743;AP001885;BC044239;BC110419;BC121024;BC121025;CH471076;DA870287;DB460018;NM_207354;NR_030767 AAH44239;AAI10420;AAI21025;AAI21026;BAC85932;BAC86550;BAG51301;BAG51952;EAW74583;EAW74584;EAW74585;EAW74586;NP_997237;Q6ZTN6 Hs.438673 2113958;2155198;2156868;2177282;2191167;5014051;5015861;5016478;5020946;5022576;5022578;5022651;5024039;5024272;5037552;5492139;7185938 ADRBK1;D10S16;D11S2921;D16S325;D1S1361;D1S1423;D2S1254;D8S2278;D8S2279;GDB:434012;L17971;MARC_15697-15698:1013523581:1;RH45377;STS-W92216;WI-15244;adrbk1sts1 MGC50828 OTTHUMP00000222934;OTTHUMP00000222935;OTTHUMP00000236816;ankyrin repeat domain-containing protein 13D protein-coding ENSG00000172932 27880 17349 615126 VALIDATED 1322851 ANKRD16 ankyrin repeat domain 16 10 10 10 p15.1 5834082 5862252 - 5943695 5971352 - 5903689 5931860 - 6480464 15489334;15164054;14702039;12477932;17207965;20453838;23251661 54522 Q6P6B7 AA431197;ABBA01034770;ABBA01034771;AI738771;AK093489;AK094497;AK129672;AL137186;AL137614;AL596094;AMYH01002002;AW470888;AW630443;BC017324;BC062346;BC067892;CH471072;NM_001009941;NM_001009943;NM_019046 AAH62346;ADQ32142;CAB70843;EAW86429;NP_001009941;NP_001009943;NP_061919;Q6P6B7 Hs.289828 1675911;1722107;1780080;1850956;2218992;5015619;5022578;5022651;5037552 ANKRD16__4307;D10S1596;D11S2921;D11S3114;D1S1423;D8S2279;G60095;RH92268;SHGC-154401 OTTHUMP00000019019;OTTHUMP00000019020;OTTHUMP00000216165;ankyrin repeat domain-containing protein 16 protein-coding ENSG00000134461 23471 12459 VALIDATED 1604586 ANKRD13C ankyrin repeat domain 13C 1 1 1 p32.3-p31.3 69014622 69110347 - 70500129 70592993 - 70724685 70820417 - 6480464 12477932;11256614;16710414;16381901;15489336;15489334;14702039;11076863;8889548;11230166;20959461;21906983 81573 Q8N6S4 ABBA01074483;ABBA01074484;ABBA01074485;ABBA01074486;ABBA01074487;AK074187;AL136717;AL158839;AL353771;AL354721;AMYH01000699;BC016937;BC028840;BU622247;CD000035;CH471059;CK299538;NM_030816 AAH16937;AAH28840;BAG51959;CAB66651;CAL37790;CAL38346;EAX06456;EAX06457;NP_110443;Q8N6S4 Hs.105016 1654662;1676956;1682457;1692284;1698546;1715355;1770609;2151996;2181652;2185674 AL009311;AL033802;RH102825;RH120509;RH48351;RH92420;RH92699;SHGC-52664;WI-14729;WI-21498 DKFZp566D1346;FLJ14998;RP4-677H15.5;dJ677H15.3 OTTHUMP00000010939;OTTHUMP00000010940;ankyrin repeat domain-containing protein 13C protein-coding 25374 13176 615125 VALIDATED 6480412 ANKRD18EP ankyrin repeat domain 18E, pseudogene 6 p21.2 39078100 39080695 + 100131031 ABBA01038308;AL035690;AMYH01016288;CH471081;NG_028818 EAX03978 uncharacterized protein LOC100131031 pseudo 43609 INFERRED 1607057 ANKRD17 ankyrin repeat domain 17 This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 71296572 71480590 - 74159366 74343366 - 73940502 74124502 - 6480464 22328336;15302935;14702039;14557257;12747765;12477932;11740861;11165478;9734811;8889548;17609381;19615732;20200953;20379614;20936779;19815555;20682791;22558309;21139048;22586326;18029348;22190034 26057 E7EUV3;H0YLQ3;H0YM23;H0YMS3;Q9H288 AB014597;ABBA01022984;ABBA01022985;ABBA01022986;ABBA01022987;AC053527;AC095053;AC105757;AF308285;AI680274;AK025859;AK055209;AK096518;AK299046;AK300302;AK307581;AL831903;AL833287;AMYH01014296;AMYH01014297;AMYH01014298;BC004173;BC004891;BC007747;BC009043;BC019963;BC029935;BC043394;BU608983;BU687888;BX648035;CD690889;CH471057;NM_032217;NM_198889 AAG48253;AAH04173;AAH07747;AAH19963;AAH43394;AAI46383;BAA31672;BAB15260;BAG53312;BAG61120;BAG62055;CAD38571;EAX05654;EAX05655;EAX05656;EAX05657;EAX05658;NP_115593;NP_942592;O75179 Hs.601206;Hs.743705 1660062;1672565;1774202;1788736;1847496;1853526;2117397;2125412;2130392;2134043;2143450;2155019;2174201;2187098;5096751 D4S2838;D4S844;D4S872;G34305;G34416;G34499;RH127459;RH35831;SGC33720;SGC38257;SHGC-24711;SHGC-67820;SHGC4-1565;WI-11060;WI-16604 FLJ22206;GTAR;KIAA0697;NY-BR-16 OTTHUMP00000219059;OTTHUMP00000219060;OTTHUMP00000219061;ankyrin repeat domain-containing protein 17;gene trap ankyrin repeat protein;serologically defined breast cancer antigen NY-BR-16 APPROVED protein-coding ENSG00000132466 23575 10648 REVIEWED 1352126 ANKRD18A ankyrin repeat domain 18A 9 9 9 p13.1 38507268 38556673 - 38533250 38610541 - 38571361 38620360 - 6480464 14702039;12477932;16344560;20618440;21906983;23131552 253650 H3BPE5;H3BTJ1;Q8IVF6;Q8NA88;R4GN29 AB095935;ABBA01050374;ABBA01050375;AK093059;AL390726;AL591543;AL834388;AMYH01019367;AY550933;BC056266;BC131497;BC152434;BQ787286;BX280525;DB066861;NM_147195 AAH56266;AAI52435;AAS57859;BAC04038;BAC23111;NP_671728;Q8IVF6 Hs.644630 2162134 RH12064 FLJ35740;FLJ40632;KIAA2015;MGC176674 OTTHUMP00000021402;ankyrin repeat domain-containing protein 18A protein-coding ENSG00000180071 23643 13419 VALIDATED 5684153 ANKRD18CP ankyrin repeat domain 18C, pseudogene 9 q22.33 99983865 99999969 - 12477932 100287922 ABBA01042937;AK098764;AK309476;AL590705;AMYH01021551;AMYH01021552;CD644713;CD709196;XR_132563;XR_133528;XR_171802 Hs.638367;Hs.648180 1679874;1682057;1685496;1709398;5037552 D8S2279;RH45881;RH65315;RH69285;SHGC-81723 FLJ25898;FLJ99517 pseudo ENSG00000159712 43601 MODEL 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 9 9 q13 67516581 67559660 + 67926761 67969840 + 6480464 15164053;11230166;11076863;11256614;16381901;15489336 84210 Q5TYW2 AL136793;AMYH01020306;AMYH01021197;AMYH01021198;AMYH01021199;AMYH01021200;AMYH01021201;AMYH01021202;AMYH01021203;AMYH01021204;AMYH01021205;AMYH01021206;AMYH01021207;AMYH01021208;AMYH01021209;AMYH01021210;AMYH01021211;AMYH01021212;AMYH01021213;BX649567;NM_032250;XM_003960452 AAI46682;CAB66727;CAL38009;NP_115626;Q5TYW2;XP_003960501 Hs.632671 ANKRD20A;DKFZp434A171 OTTHUMP00000032570;ankyrin repeat domain-containing protein 20A1 protein-coding ENSG00000196774 23665 10649 PROVISIONAL 6480411 ANKRD20A13P ankyrin repeat domain 20 family, member A13, pseudogene 1 q21.1 143209382 143213259 - 100132733 AMYH01001014;BX571672;NG_029281 1758537 SHGC-148652 pseudo 43604 INFERRED 6480383 ANKRD20A14P ankyrin repeat domain 20 family, member A14, pseudogene 1 142823386 142827232 + 100533719 AMYH01001005;BX572084;NG_028834 pseudo 43605 INFERRED 5129379 ANKRD20A10P ankyrin repeat domain 20 family, member A10, pseudogene 13 13 6389169 6389736 - 25325904 25326471 - 100421422 ABBA01007894;AL391560;AMYH01004976;NG_024841 1730215;7184676 D13S179E ANKRD20A4P1 APPROVED pseudo 39707 INFERRED 6480384 ANKRD20A15P ankyrin repeat domain 20 family, member A15, pseudogene 1 143375107 143378961 + 100533720 BX004987;NG_028835 pseudo 43606 INFERRED 6480404 ANKRD20A16P ankyrin repeat domain 20 family, member A16, pseudogene 21 9765961 9769809 + 100421427 AMYH01012122;CR381670;NG_025049 pseudo 43607 INFERRED 6480405 ANKRD20A17P ankyrin repeat domain 20 family, member A17, pseudogene 4 49504165 49508042 - 100421363 AC119751;AMYH01014169;NG_025102 pseudo 43608 INFERRED 1605802 ANKRD18DP ankyrin repeat domain 18D, pseudogene 3 3 3 q29 196399188 196422329 - 199268799 199291939 - 197784402 197807542 - 12477932;21906983 348840 ABBA01007556;AC073135;AK125940;AMYH01013810;BC042518;BC053879;CH471252;NR_003291 EAW92257;EAW92258 Hs.512227 1722837 G60360 APPROVED pseudo ENSG00000226435 28016 14181 PROVISIONAL 1351862 ANKRD18B ankyrin repeat domain 18B 9 9 9 p13.3 33454000 33502434 + 33513927 33566909 + 33524411 33573001 + 12477932;21906983 441459 A2A2Z9;A2A300;R4GNB3 ABBA01065047;ABBA01065048;AL139008;AMYH01019324;BC009440;BF103989;DB512460;DW421358;DW441346;NM_001244752 A2A2Z9;NP_001231681 Hs.493710 bA255A11.3;bA255A11.5 OTTHUMP00000195020;ankyrin repeat domain 18B;ankyrin repeat domain-containing protein 18B protein-coding ENSG00000230453 23644 18466 INFERRED 1343328 ANKRD20A18P ankyrin repeat domain 20 family, member A18, pseudogene 21 21 21 q11.2 593740 598609 + 14350817 14363285 + 15436540 15441409 + 391269 ABBA01057078;AMYH01012140;AP001347;NG_009314 C21orf126 APPROVED pseudo 23756 INFERRED 1625836 ANKRD20A20P ankyrin repeat domain 20 family, member A20, pseudogene 9 9 q21.11 68715488 68738681 + 69423200 69448577 + 728788 CR769776;NG_016332 CCDC29 APPROVED pseudo 32319 INFERRED 1604144 ANKRD20A19P ankyrin repeat domain 20 family, member A19, pseudogene 13 13 13 q12.12 5578100 5584790 - 23413070 23420113 - 24481423 24523454 - 19851299 400110 Q6ZRH4 ABBA01007883;AK127292;AK128225;AL445985;AMYH01004971;CH471075;NR_073430;XM_003846335;XM_003846336;XM_003846566;XM_003846567;XM_003960524;XM_003960525 BAC86920;BAC87336;EAX08330;Q6ZRH4;XP_003846383;XP_003846384;XP_003846614;XP_003846615;XP_003960573;XP_003960574 Hs.744780 5022649 D11S2875 FLJ46358 FLJ46358 protein;ankyrin repeat domain 20 family, member A19, pseudogene;hypothetical protein LOC400110;putative uncharacterized protein FLJ46358 APPROVED pseudo 42737 13533 VALIDATED 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 9 9 q21.11 68671801 68714929 + 69381981 69425109 + 15164053;16751776 728747 Q4UJ75 AK307323;AMYH01021246;CR769776;DQ576528;NM_001098805 NP_001092275;Q4UJ75 Hs.645502 OTTHUMP00000069774;ankyrin repeat domain-containing protein 20A4 protein-coding ENSG00000172014 31982 PROVISIONAL 3539631 ANKRD20A6P ankyrin repeat domain 20 family, member A6, pseudogene Y Y q11.1 11789294 11790115 + 13329294 13330115 + 728157 AC134878;NG_022981 pseudo 37714 INFERRED 4144668 ANKRD20A7P ankyrin repeat domain 20 family, member A7, pseudogene 9 9 p11.2 43986669 44058721 - 44075380 44118556 - 653436 ABBA01033776;AMYH01020306;CR848007;NG_012726 pseudo 31980 INFERRED 1604746 ANKRD19P ankyrin repeat domain 19, pseudogene 9 9 9 q22.31 66013959 66042818 + 94611301 94640563 + 95571893 95600739 + 15489334;15164053;14702039;12477932 138649 Q9H560 ABBA01018596;AK093497;AK292218;AL136981;AMYH01021510;BC028712;BC038951;BC117367;BC171729;CH471089;DB449690;NR_026868 AAH38951;AAI17368;AAI71729;BAF84907;EAW62830;EAW62831;EAW62832;EAW62833 Hs.643597 1771686;2181135 RH48561;RH78225 ANKRD19;FLJ36178;bA526D8.2 APPROVED pseudo ENSG00000187984 22567 16490 VALIDATED 1351764 ANKRD20A8P ankyrin repeat domain 20 family, member A8, pseudogene 2 2 2 q11.1 89777074 89873221 - 94790400 94886547 - 95426673 95522820 - 729171 Q5CZ79 ABBA01003581;ABBA01003582;ABBA01003583;ABBA01003584;ABBA01003585;ABBA01003586;ABBA01003587;ABBA01003588;AC073464;AC097374;AMYH01010682;CR936649;NR_003366 CAI56787;Q5CZ79 Hs.456852 ANKRD20B;DKFZp686H1631 APPROVED pseudo 23666 VALIDATED 6480986 ANKRD20A12P ankyrin repeat domain 20 family, member A12, pseudogene 1 142697421 142713605 - 12477932;14702039;16710414;21906983 100874392 Q8NF67 ABBA01155013;AK090412;AL583842;AMYH01001004;BC022380;NR_046228 BAC03393;Q8NF67 Hs.648245 FLJ00310 pseudo 43603 VALIDATED 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 9 9 p12 42358299 42401406 + 42368303 42411410 + 6480464 15164053;12477932 441430 Q5SQ80 AL773545;AMYH01020049;AMYH01020050;AMYH01020051;AMYH01020052;AMYH01020053;AMYH01020054;AMYH01020055;AMYH01020056;AMYH01020057;AMYH01020058;BX664727;NM_001012421 NP_001012421;Q5SQ80 Hs.632663 MGC176486 OTTHUMP00000064580;ankyrin repeat domain 20 family, member A2;ankyrin repeat domain-containing protein 20A2 protein-coding ENSG00000183148 31979 18652 VALIDATED 5133096 ANKRD20A9P ankyrin repeat domain 20 family, member A9, pseudogene 13 13 q11 18306848 18357591 - 19408543 19446109 - 6480464 10737800;8889548 284232 ABBA01068539;AL355516;AL391382;AMYH01004934;BJ991373;DW423875;NR_027995 Hs.679496;Hs.694496;Hs.742626 1701216;1748423;2155495 G64223;RH104236;RH36536 pseudo 42023 PROVISIONAL 1312939 ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle) ANKRD2 belongs to the conserved muscle ankyrin repeat protein (MARP) family. Expression of MARPs is induced in response to physiologic stress, injury, and hypertrophy (Miller et al., 2003 [PubMed 14583192]).[supplied by OMIM, Mar 2008] 10 10 q23 99322246 99333631 + 99332256 99343641 + 1580863;6480464 11444853;17206105;16344560;16021567;15677738;15489334;15164054;15136035;14702039;14583192;12679596;12477932;12004005;11972353;11453652;10873377;1204005;16385451;20211142;22185618;21737686;22016770;18029348 26287 Q5T457;Q9GZV1 AB058599;ABBA01021800;AJ249975;AJ304804;AJ304805;AJ346356;AJ583444;AK056990;AK314763;AL355315;AL359388;AMYH01002978;BC020817;BC107759;CH471066;DA893829;NM_001129981;NM_020349 AAH20817;AAI07760;BAB60958;BAG37301;CAB99416;CAC19411;CAC19412;CAE47432;EAW49916;EAW49917;NP_001123453;NP_065082;Q9GZV1 Hs.73708 1684526;2137905;2153196;2220490 RH41894;RH48677;RH99032;UniSTS:483548 ARPP;MGC104314 OTTHUMP00000020219;OTTHUMP00000020220;ankyrin repeat domain-containing protein 2;ankyrin-repeat protein;hArpp;skeletal muscle ankyrin repeat protein APPROVED protein-coding ENSG00000165887 495 12460 610734 VALIDATED 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 9 9 9 p12 89829797 89873428 - 43079968 43123540 - 43089972 43133544 - 15164053;12477932 441425 B2RTT7;K7EJ15;Q5VUR7 AL513478;AMYH01020203;AMYH01020204;AMYH01020205;AMYH01020206;AMYH01020207;AMYH01020208;AMYH01020209;AMYH01020210;AMYH01020211;AMYH01020212;AMYH01020213;AMYH01020214;AMYH01020215;AMYH01020216;BC140809;BC171793;NM_001012419 AAI40810;AAI67832;AAI71793;NP_001012419;Q5VUR7 Hs.632663 MGC176486;MGC198508 OTTHUMP00000015360;ankyrin repeat domain 20A-related;ankyrin repeat domain-containing protein 20A3 protein-coding ENSG00000132498 31981 17405 PROVISIONAL 5129398 ANKRD26P2 ankyrin repeat domain 26 pseudogene 2 13 13 13 q13.3 20537488 20564271 - 38381465 38408241 - 39483365 39510341 - 646929 ABBA01021319;AL354819;AL445590;AL607149;AMYH01005045;NG_006568 1339884;1759775;1764029;1764033;1771620;1782954 AFMa130xc9;D13S1288;SHGC-147683;SHGC-147695;SHGC-150887;SHGC-156230 KIAA1074 pseudo 39687 INFERRED 2304149 ANKRD20A5P ankyrin repeat domain 20 family, member A5, pseudogene 18 18 18 p11.21 14058762 14106133 + 14169096 14175390 + 14179096 14227049 + 15489334;15342556;12477932 440482 A0PJZ0 ABBA01074044;AMYH01008855;AP001004;BC022023;BC127726;BP201899;CH471113;DB446908;NR_040113 A0PJZ0;AAH22023;AAI27727;EAX01494;EAX01495;EAX01496 Hs.632352 2155495 RH36536 ANKRD20A5;MGC26718 Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718;ankyrin repeat domain 20 family, member A5;ankyrin repeat domain-containing protein 20A-like protein MGC26718;putative ankyrin repeat domain-containing protein 20A5 APPROVED pseudo ENSG00000186481 33833 VALIDATED 1317302 ANKRD22 ankyrin repeat domain 22 10 10 10 q23.31 84326476 84358565 - 90569636 90601712 - 90579656 90611732 - 737633;6480464 12477932 22318606;16344560;16341674;15489334;15164054;8889549;16385451;20379614;17207965;20211142 118932 Q5VYY1 ABBA01021953;AK313969;AL157394;AL353113;AMYH01002933;BC021671;BM785517;CH471066;CS300545;DA672161;N95187;NM_144590 AAH21671;ADQ33206;BAG36684;CAK32209;EAW50159;NP_653191;Q5VYY1 Hs.217484 1665889;1670713;1710446;1740635;2130296 D20S990;RH47202;SHGC-32791;SHGC-57024;SHGC-82521 MGC22805 OTTHUMP00000020041;ankyrin repeat domain-containing protein 22 protein-coding 28321 12461 VALIDATED 6481446 ANKRD26P4 ankyrin repeat domain 26 pseudogene 4 13 31885422 31887065 + 100873882 ABBA01010123;AL138965;AMYH01005017;NG_032348 pseudo 39690 INFERRED 1322819 ANKRD24 ankyrin repeat domain 24 19 19 19 p13.3 4122806 4164282 + 4134351 4175811 + 4183351 4224811 + 6480464 15146197;12477932;11853319;16169070;20936779 170961 M0QZ18;M0R0N9;Q8TF21 AB075861;ABBA01056081;ABBA01056082;ABBA01056083;AC005578;AC006930;AMYH01009328;AMYH01009329;BC028236;BI914435;BX117359;BX359277;CN286920;NM_133475 AAC33490;AAD15479;BAB85567;NP_597732;Q8TF21 Hs.197872 KIAA1981 ankyrin repeat domain-containing protein 24 protein-coding ENSG00000089847 29424 PROVISIONAL 1602441 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 16 16 16 q11.2 31011416 31111174 - 45065535 45109391 - 46503249 46603009 - 12477932;11181995 124149 Q6NSI1;Q6ZU59 ABBA01013774;ABBA01013775;ABBA01013776;AC092368;AC106819;AK125968;AMYH01007640;BC070117;BX648636;CD000265;CH471092;CR749347;NR_026556 BAC86367;CAH18200;EAW82764;Q6NSI1 Hs.97414 1681636;1753325 RH92015;SHGC-68819 DKFZp781D1722;FLJ43980;MGC87661 pseudo 32955 13482 VALIDATED 5129292 ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 13 13 13 q12.11 898817 980968 - 18757168 18806424 - 19836940 19919113 - 11181995;12477932 100101938 ABBA01068552;ABBA01068553;ABBA01068554;AL139327;AL356259;AMYH01004936;BC036210;CH471075;NR_027248 EAX08214 Hs.129283 1758509 SHGC-148527 KIAA1074;LINC00414 pseudo 39689 VALIDATED 1350593 ANKRD30A ankyrin repeat domain 30A 10 10 p11.21 37454791 37561501 + 37414785 37521495 + 1580863;6480464 15164054;11280766;18029348;19043545;18464913;18041742;17903294;17536312;17330232;16675566;16335914;15342556;16385451;23314748;21906983;22699663 91074 Q5W026;Q9BXX3;R4GNA2 ABBA01033304;ABBA01033305;AC067744;AF269087;AL157387;AL357148;AMYH01002252;AMYH01002253;AMYH01002254;AMYH01002255;AMYH01002256;AMYH01002257;AMYH01002258;AMYH01002259;BP312910;CH471072;DN831985;NM_052997 AAI72447;AAK27325;EAW85904;NP_443723;Q9BXX3 Hs.373787 1703484 SHGC-82599 NY-BR-1;RP11-20F24.1 OTTHUMP00000019457;OTTHUMP00000019458;ankyrin repeat domain-containing protein 30A;breast cancer antigen NY-BR-1;serologically defined breast cancer antigen NY-BR-1 protein-coding ENSG00000148513 17234 10125 610856 VALIDATED 1321281 ANKRD23 ankyrin repeat domain 23 This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 91943786 91949893 - 96867378 96873485 - 97503651 97509758 - 1580863;2314858;2314859;6480464 15238456;12456686 15815621;15489334;14702039;14583192;12477932;10737800;18029348 200539 Q86SG2;Q96MF3 ABBA01036575;AC092636;AF492401;AJ315766;AK057011;AK092564;AMYH01010726;AY196212;BC038584;BC107056;BF827606;CH471207;NM_144994 AAI07057;AAO24067;AAO40750;AAY14965;BAB71342;BAC03915;CAC86120;EAW71331;EAW71332;EAW71333;NP_659431;Q86SG2 Hs.643430 1853247;2119172;2182517 RH41816;RH46431;SHGC-56804 DARP;FLJ32449;MARP3;MGC129593 OTTHUMP00000161094;OTTHUMP00000207608;OTTHUMP00000207609;ankyrin repeat domain-containing protein 23;diabetes related ankyrin repeat protein;diabetes-related ankyrin repeat protein;muscle ankyrin repeat protein 3 APPROVED protein-coding ENSG00000163126 24470 12462 610736 REVIEWED 1350728 ANKRD30BP1 ankyrin repeat domain 30B pseudogene 1 21 21 q11.2 13678381 13783368 - 14756163 14800096 - 642460 ABBA01030838;AL050302;AMYH01012131;NG_009612 1695616;1729604;1730632;1731337;1759837;1857640 D21S215;D21S308;D21S369;G48498;SHGC-170076;SHGC-51833 ANKRD30BP;C21orf110;PRED4 APPROVED pseudo 19722 INFERRED 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) 19 19 19 q13.11 29781556 29859734 - 37779747 37857942 - 33087907 33166102 - 737633;1580863;6480464 12477932 16525121;11256614;18477474;16381901;15498874;15489336;15489334;15231748;14702039;11230166;11076863;19745841;19913121;20628086;23104059;21139048;21906983;23377640 84079 K7EIH4;K7EIN0;K7ELM1;K7ENE0;K7EPM2;Q96NW4 AA903176;ABBA01039596;ABBA01039597;ABBA01039598;ABBA01039599;AC008474;AF447882;AK054561;AL136784;AL834335;AMYH01009696;BC015552;BC045605;BC050529;BI462844;NM_032139 AAH50529;AAQ04657;BAB70755;CAB66718;CAD39003;CAL38738;NP_115515;Q96NW4 Hs.59236 1734658;1767560 D19S607;D19S661E DKFZP434L0718;FLJ00040;PP12899;VARP VPS9 domain-containing protein;VPS9-ankyrin-repeat protein;Vps9 domain and ankyrin-repeat-containing protein;ankyrin repeat domain-containing protein 27 protein-coding ENSG00000105186 25310 10650 VALIDATED 1314711 ANKRD26 ankyrin repeat domain 26 This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p12.1 27009534 27105923 - 27333051 27429433 - 27293045 27389427 - 6480464;7240710 17081983;16344560;15489334;15203218;15164054;14702039;12477932;10470851;21211618;20877624;22990118;21467542;21282530;22118674 22852 E7ESJ3;H0Y4T9;Q9UPS8 AB028997;ABBA01034403;ABBA01034404;AK001137;AK128577;AL137351;AL162063;AL162272;AMYH01002204;BC110646;BC130453;CD626319;CH471072;DA712092;DB228067;NG_031973;NM_001256053;NM_014915 AAI10647;AAI30454;BAA83026;BAA91516;BAC87508;CAB70706;CAB82401;EAW86073;NP_001242982;NP_055730;Q9UPS8 Hs.361041 1735990;2125290;2183690 D10S1279E;RH70636;WI-16405 KIAA1074;MGC163325;THC2;bA145E8.1 OTTHUMP00000019356;ankyrin repeat domain-containing protein 26 APPROVED protein-coding ENSG00000107890 29186 16491 188000;610855 REVIEWED 1317259 ANKRD29 ankyrin repeat domain 29 18 18 18 q11.2 17996135 18059022 - 19433975 19496849 - 21179977 21242849 - 737633;6480464 12477932 15489334;14702039;8889548;17207965 147463 C9IZK0;K7EL63;K7EQM1;Q8N6D5 ABBA01022627;ABBA01022628;ABBA01022629;ABBA01022630;ABBA01022631;ABBA01022632;AC010853;AK057782;AK123197;AK313667;AMYH01008887;BC030622;BM680506;CH471088;NM_173505 AAH30622;ADQ31854;BAB71569;BAC85555;BAG36419;EAX01159;EAX01160;NP_775776;Q8N6D5 Hs.374774 1672868;1672903;1731737;2151545;2171454 D18S511;G22474;HSCZUA082;RH11997;WI-14696 FLJ25053 OTTHUMP00000162701;ankyrin repeat domain-containing protein 29 protein-coding ENSG00000154065 27110 12464 VALIDATED 1354207 ANKRD30B ankyrin repeat domain 30B 18 18 18 p11.21 383 101344 - 14738239 14844028 + 14748239 14852737 + 6480464 12477932;11280766 374860 Q9BXX2 AADB02020312;AADB02020314;AADB02020315;AADB02020317;ABBA01074081;AF269088;AK294693;AMYH01008862;AMYH01008863;AMYH01008864;AMYH01008865;AP005121;AP006507;AP006564;AP006565;BC028407;CH471277;NM_001145029 AAK27326;BAG57852;EAW53959;NP_001138501;Q9BXX2 Hs.567889 1695616;1729604;1731337;1759837;5022578 D1S1423;D21S215;D21S369;G48498;SHGC-170076 NY-BR-1.1 ankyrin repeat domain-containing protein 30B;breast cancer antigen NY-BR-1.1;serologically defined breast cancer antigen NY-BR-1.1 protein-coding ENSG00000180777 24165 VALIDATED 1343361 ANKRD28 ankyrin repeat domain 28 3 3 3 p25.1 15646877 15840010 - 15683747 15876057 - 15708743 15901053 - 6480464 17928403;18186651;19118547;17023142;16564677;14743216;14702039;12477932;12168954;9205841;15146197;19596235;19615732;22863883;22990118;21187329;21139048;21890473;22586326;19380743 23243 B4DIW9;F8WDU2;O15084 AB002377;ABBA01025136;ABBA01025137;AC090945;AC090950;AI565587;AK126888;AK293770;AK295813;AK299540;AMYH01013002;AY367056;BC035170;BC048975;BC064513;BC080522;BC106948;BC113868;BC114476;BQ423818;CH471055;CN313636;NM_001195098;NM_001195099;NM_015199 AAI06949;AAI13869;AAI14477;AAI66612;AAQ72374;BAA20833;BAC86737;BAG57186;BAG58631;BAG61487;EAW64257;EAW64258;EAW64259;EAW64260;EAW64261;EAW64262;EAW64263;EAW64264;EAW64265;NP_001182027;NP_001182028;NP_056014;O15084 Hs.335239 1336766;1754161;1779014;2140679;2160571;2218220;5014051;5019219;7185155 ANKRD28__4312;D3S1286;D8S2278;DXS7953;SGC30737;SHGC-132190;SHGC-14778;SHGC-76750 KIAA0379;PITK;PPP1R65 OTTHUMP00000207863;OTTHUMP00000207865;OTTHUMP00000208043;PP6-ARS-A;ankyrin repeat domain-containing protein 28;phosphatase interactor targeting K protein;phosphatase interactor targeting protein hnRNP K;protein phosphatase 1, regulatory subunit 65;protein phosphatase 6 ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A;serine/threonine-protein phosphatase 6 regulatory subunit ARS-A protein-coding ENSG00000206560 29024 10651 611122 VALIDATED 1354086 ANKRD31 ankyrin repeat domain 31 5 5 5 q13.3 70258290 70426854 - 74477548 74568459 - 74364122 74532703 - 6480464 14702039;22952603 256006 D6RJB7;H0YAM5;Q8N7Z5 ABBA01061941;ABBA01061942;AC008769;AC093259;AK097510;AMYH01015408;AMYH01015409;NM_001164443 BAC05081;NP_001157915;Q8N7Z5 Hs.482533 1338742;1339587;1690570;1699120;1779202;1780180;1857253;2144805;2175013 AFMa106we5;D5S1351;D5S2003;D5S2643;RH103136;RH75379;SHGC-150778;SHGC-154551;STS-AA010697 FLJ40191 ankyrin repeat domain-containing protein 31;putative ankyrin repeat domain-containing protein 31 protein-coding ENSG00000145700 26853 INFERRED 6481081 ANKRD33B-AS1 ANKRD33B antisense RNA 1 100874247 AC106760 APPROVED miscrna 41298 2303829 ANKRD30BL ankyrin repeat domain 30B-like 2 2 2 q21.2 126625218 126734890 - 132621646 132636004 - 132905164 133015542 - 17114284;15197164;12477932 554226 A7E2S9 ABBA01028222;ABBA01028223;ABBA01028224;AC097532;AC098826;AMYH01011105;AMYH01011106;AMYH01011107;AMYH01011108;AMYH01011109;BC029821;BC045801;BC057764;BC150521;BG719107;CF272540;CH471058;CR747466;NR_027019;NR_027020 A7E2S9;EAX11681 Hs.380689 1711454;1793006 G47279;PMC18377P1 ANKRD30BP3;NCRNA00164 APPROVED pseudo ENSG00000163046 35167 VALIDATED 6480966 ANKRD33B-IT1 ANKRD33B intronic transcript 1 (non-protein coding) 100874376 AC106760 miscrna 41506 7206963 ANKRD30BP3 ankyrin repeat domain 30B pseudogene 3 10 q11.21 45650110 45681489 + 12477932 338579 ABBA01050025;AK098688;AL358394;AL512324;AMYH01002298;BC031237;BC043208;NR_033891 AAH31237;BAC05379 Hs.666134 1782120;5020881;5037552 D8S2279;L17709;SHGC-155154 pseudo 27873 VALIDATED 2307384 ANKRD33B ankyrin repeat domain 33B 5 5 5 p15.2 10602518 10695071 + 10615464 10703225 + 10564435 10657928 + 6480464 15372022;14702039 651746 A6NCL7;D6R912 ABBA01020604;ABBA01020605;AC106760;AC112200;AF056441;AK023999;AMYH01014905;BC018597;NM_001164440 A6NCL7;NP_001157912 Hs.26039 1763237;2174939 A006S19;SHGC-146966 Ankyrin repeat domain-containing protein LOC651746;OTTHUMP00000221154;ankyrin repeat domain-containing protein 33B protein-coding 35240 VALIDATED 2291762 ANKRD34C ankyrin repeat domain 34C 15 15 15 q25.1 56511721 56527148 + 77372682 77374891 + 79575146 79590581 + 14702039 390616 P0C6C1 ABBA01060605;AC011797;AK090665;AK127037;AL109678;AMYH01006845;NM_001146341 NP_001139813;P0C6C1 Hs.531231 1646250;1783186 SHGC-142380;WI-15561 FLJ33346;FLJ45093 ankyrin repeat domain-containing protein 34C protein-coding ENSG00000235711 33888 VALIDATED 1312535 ANKRD32 ankyrin repeat domain 32 5 5 5 q15 89816284 89893469 + 94040330 94057338 + 93954391 94031573 + 6480464 15632077;12477932;11230166;21139048;21693764;22036607 84250 B4DMG4;D6RED9;H0YBU1;I6L9F1;Q9BQI6 ABBA01069268;AC008534;AC025766;AK297452;AK299080;AK309859;AL050298;AL136560;AMYH01015486;AMYH01015487;BC015315;BC054885;BC063674;BC070332;BC107571;BU431750;CH471084;CR533539;CR936768;DR001089;NM_032290 AAH54885;AAH63674;AAH70332;AAI07572;ACE86937;ACE87625;BAG59876;BAG61145;CAB43397;CAB66495;CAG38570;EAW96026;EAW96027;EAW96028;EAW96029;NP_115666;Q9BQI6 Hs.657315 1647531;1656655;1847111 A006Q05;R58928;RH12463 BRCTD1;BRCTx;DKFZp564C0469;DKFZp761C121 BRCT domain containing 1;BRCT domain-containing protein 1;OTTHUMP00000149936;ankyrin repeat domain-containing protein 32 protein-coding 25408 08538 VALIDATED 1344415 ANKRD30BP2 ankyrin repeat domain 30B pseudogene 2 21 21 21 q11.2 15126362 15128242 + 13332400 13346615 + 14410487 14490572 + 17114284;15489334;12477932;12036297 149992 ABBA01114593;AF427490;AJ239321;AMYH01012130;AP001464;BC036510;BC126176;BC126178;DQ179138;DQ179139;DQ179140;DQ179141;NR_026916 AAM53529;ABB05089 Hs.558645;Hs.579474 5037552 D8S2279 C21orf99;CT85;CTSP-1;CTSP1 APPROVED pseudo 16620 10779 PROVISIONAL 1347090 ANKRD34A ankyrin repeat domain 34A 1 1 1 q21.1 119673860 119679002 + 144181865 144187004 + 145470508 145475647 + 6480464 14702039;18029348;16344560;8889548 284615 Q69YU3 ABBA01005743;ABBA01005744;AC243547;AK094282;AK128050;AL160282;AL359622;AMYH01001373;BM723295;DA081864;NM_001039888 BAG52855;BAG54622;CAH10676;NP_001034977;Q69YU3 Hs.620591 1658744 SHGC-3211 ANKRD34;DKFZp761F202 OTTHUMP00000015577;ankyrin repeat domain 34;ankyrin repeat domain-containing protein 34A protein-coding ENSG00000181039 27639 VALIDATED 1344617 ANKRD33 ankyrin repeat domain 33 12 12 12 q13.13 51083930 51087642 + 50568011 50571705 + 52281793 52285505 + 6480464 16541075;14702039;12477932;21107309;20026326 341405 F8VTQ6;Q0VAA8;Q5K617;Q7Z3H0 ABBA01031619;AC025259;AF517108;AF517109;AF517110;AF517111;AF517112;AF517113;AF517114;AF517115;AF517116;AF517117;AF517118;AF517119;AF517120;AK125517;AMYH01004469;BC121152;BC121153;BX537908;BX640656;BX647684;BX649168;CH471111;NM_001130015;NM_182608 AAI21153;AAI21154;AAQ07989;AAQ07990;AAQ07991;AAQ07992;AAQ07993;AAQ07994;AAQ07995;AAQ07996;AAQ07997;AAQ07998;BAC86190;CAD97893;CAE45798;EAW58207;EAW58208;EAW58209;EAW58210;NP_001123487;NP_872414;Q7Z3H0 Hs.433492 2184069;5107125 G65568;SHGC-32462 C12orf7;DKFZp686O1689;PANKY OTTHUMP00000241374;OTTHUMP00000241376;ankyrin repeat domain-containing protein 33 protein-coding ENSG00000167612 13788 12465 VALIDATED 1604706 ANKRD34B ankyrin repeat domain 34B 5 5 5 q14.1 75753876 75767603 - 79888330 79901854 - 79852574 79866304 - 6480464 12477932;15358210 340120 A5PLL1;D6RH12 ABBA01062043;AC008434;AC018764;AMYH01015445;BC137441;BC137442;BC142957;CH471084;CR749535;NM_001004441 A5PLL1;AAI37442;AAI37443;AAI42958;AAI43088;AAI43089;ACE86934;CAH18341;EAW95857;EAW95858;NP_001004441 Hs.519404 DP58 OTTHUMP00000222288;OTTHUMP00000222289;ankyrin repeat domain-containing protein 34B;cytosolic phosphoprotein DP58;dendritic phosphoprotein 58 kDa protein-coding ENSG00000189127 33736 13246 VALIDATED 3378225 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 Y Y Y q11.23 9481640 9502237 + 26964897 26979636 + 28555667 28585150 + 9847074 100132420 ABBA01015501;ABBA01015502;ABBA01015503;ABBA01015504;ABBA01015505;ABBA01015506;AC013734;NG_029080 5116742 sY3159 pseudo 37759 INFERRED 1602616 ANKRD36C ankyrin repeat domain 36C 2 2 2 q11.1 91015332 91035982 - 95880570 96021431 - 96516920 96657981 - 6480464 14702039;8608414;22505724 400986 E9PJI0;F8WEX4;H0YDI7;H7BXK8;H7C425;Q5JPF3 ABBA01030072;ABBA01030073;ABBA01030074;ABBA01030075;ABBA01030076;ABBA01030077;ABBA01030078;ABBA01030079;ABBA01030080;AC013272;AC073995;AK123626;AK124101;AK302433;AL832836;AL832977;AMYH01010712;AMYH01010713;AMYH01010714;U28831;XM_001717763;XM_003118857;XM_003119864;XM_003960295 AAB02177;BAG63735;CAH56324;CAI46156;Q5JPF3;XP_001717815;XP_003118905;XP_003119912;XP_003960344 Hs.646318 2174363 STS-M78662 FLJ42107;HEM1 OTTHUMP00000207419;ankyrin repeat domain 36C;ankyrin repeat domain-containing protein 36C;protein immuno-reactive with anti-PTH polyclonal antibodies APPROVED protein-coding 32946 17388 MODEL 1352925 ANKRD36B ankyrin repeat domain 36B 2 2 q11.2 97487693 97572761 - 98121261 98206428 - 737633;6480464 12477932 16344560;15489334;14702039;12107410;10997877 57730 Q8N2N9;Q8TDH5 ABBA01073644;ABBA01073645;ABBA01073646;ABBA01160606;AC017099;AC073995;AC159540;AF432208;AF432209;AK024934;AK056042;AK074570;AMYH01010789;AMYH01010790;AMYH01010791;AMYH01010792;BC017427;BC031883;BC038460;BC044844;BC071771;BC125132;BC125133;BM511319;CA394381;CH878726;CR741521;DB105321;DB353103;DR001190;NM_025190;XM_003960306 AAH31883;AAH44844;AAI25133;AAI25134;AAL99915;AAL99916;AAY24080;BAB15039;BAB71081;BAC11066;EAW53903;EAW53904;EAW53905;EAW53906;EAW53907;EAW53908;NP_079466;Q8N2N9;XP_003960355 Hs.532921 1690938;5020948;5022578;5022651 D11S2921;D1S1423;G35510;RH92495 FLJ21281;FLJ90089;KIAA1641;MGC149864;MGC149865;MGC167812 CLL-associated antigen KW-1;OTTHUMP00000161108;ankyrin repeat domain 36B;ankyrin repeat domain-containing protein 36B;kiaa1641;melanoma-associated antigen protein-coding 29333 10027 PROVISIONAL 1342961 ANKRD36 ankyrin repeat domain 36 2 2 q11.2 97143081 97148109 + 97779233 97930258 + 737633;6480464 12477932 16344560;15815621;15489334;14702039;12975309;10997877;8889548;17207965 375248 A6QL64;B5MDC9 AB046861;ABBA01010977;ABBA01036558;ABBA01036559;ABBA01036560;ABBA01036561;AC018892;AC160020;AF543495;AK090926;AK304740;AK307629;AK316541;AMYH01010729;AMYH01010730;AMYH01010731;AMYH01010732;AMYH01010733;AMYH01010734;AMYH01010735;AMYH01010736;AMYH01010737;AMYH01010738;AY358571;BC046186;BC128262;BC128517;BC146835;BX647769;CH471207;DA952980;DB516113;DW413497;NM_001164315 A6QL64;AAH46186;AAI28263;AAI28518;AAI46836;AAN40505;AAQ88934;AAY14642;ADQ33052;BAB13467;BAG65500;BAH14912;EAW71306;EAW71307;NP_001157787 Hs.541894 1690938;2185484 G04101;RH92495 FLJ33607;KIAA1641;MGC167812;UNQ2430 OTTHUMP00000207832;ankyrin repeat domain-containing protein 36;ankyrin repeat domain-containing protein 36A;ankyrin-related protein-coding ENSG00000135976 24079 16492 PROVISIONAL 2303683 ANKRD36BP1 ankyrin repeat domain 36B pseudogene 1 1 1 1 q24.2 141323828 141325693 - 166481422 166483563 - 168214803 168216668 - 6480464 16344560;12477932;16189514;21832049 84832 Q96IX9 ABBA01047231;AL009051;AMYH01001486;BC007072;DA219755;DA246884;DB229590;NR_026844 Q96IX9 Hs.537067 1671868;1676606;2174363 D1S279E;RH64481;STS-M78662 ANKRD26L1;ANKRD36BL1;MGC12538 APPROVED pseudo ENSG00000214262 28169 VALIDATED 1352290 ANKRD35 ankyrin repeat domain 35 1 1 1 q21.1 119752581 119771890 + 144260566 144279883 + 145549209 145568526 + 6480464 16710414;16344560;15489334;14702039;12477932;12107411;19471022;21900206 148741 B4DL62;Q8N283 ABBA01005742;AC243547;AK057853;AK091120;AK294308;AK296861;AL160282;AMYH01001373;AW245831;BC101618;BC101620;BQ636616;CH471244;DA399526;HY327286;NM_001280799;NM_144698 AAI01619;AAI01621;BAB71597;BAC03587;BAG57587;BAG59424;EAW71426;EAW71427;NP_001267728;NP_653299;Q8N283 Hs.710624 2135574 AL009334 FLJ25124;MGC126667;MGC126669 OTTHUMP00000015579;ankyrin repeat domain-containing protein 35 protein-coding ENSG00000198483 26323 08050 VALIDATED 4144543 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 2 2 p11.2 87683191 87723878 - 89065419 89106110 + 12477932;14702039 645784 ABBA01018821;ABBA01018822;ABBA01018823;AC096579;AK097649;AL137717;AMYH01010629;BC031698;BX537549;BX648045;NR_015424 Hs.105323 1686590;2174363 RH66284;STS-M78662 DKFZp434J1630;DKFZp686E1246;DKFZp686O04183;FLJ40330 pseudo ENSG00000230006 33607 PREDICTED 6481072 ANKRD44-IT1 ANKRD44 intronic transcript 1 (non-protein coding) 100874357 AC010746;AC074092 miscrna 41477 1604164 ANKRD37 ankyrin repeat domain 37 4 4 4 q35.1 183644030 183647577 + 186554834 186558384 + 186317840 186321390 + 6480464 15809689;15489334;12477932;19491311;21890473 353322 D6RCL4;D6RFF5;Q7Z713 ABBA01070532;AC106897;AK303243;AMYH01014774;AY296056;BC088376;CH471056;NM_181726 AAH88376;AAP50252;BAG64328;EAX04647;EAX04648;NP_859077;Q7Z713 Hs.508154 1649687;1666840;2128602 SHGC-67400;SHGC-68105;WI-14754 Lrp2bp;MGC111507 OTTHUMP00000218248;ankyrin repeat domain-containing protein 37;hLrp2bp;low density lipoprotein receptor-related protein binding protein;low-density lipoprotein receptor-related protein 2-binding protein protein-coding ENSG00000186352 29593 17461 PROVISIONAL 1602717 ANKRD39 ankyrin repeat domain 39 2 2 2 q11.2 91953885 91963918 - 96877449 96887483 - 97513722 97523756 - 6480464 16344560;15815621;15592455;15489334;12477932;11042152;21145461;17207965;21832049;21906983 51239 Q53RE8 ABBA01036574;AC092636;AF151034;AK312193;AMYH01010726;BC031303;BU626151;BX091421;CH471207;DA769410;NM_016466 AAF36120;AAH31303;AAY14966;ADQ32451;BAG35126;EAW71328;EAW71329;EAW71330;NP_057550;Q53RE8 Hs.709507 1848143;1851835 D2S2834;RH78004 MGC41816 OTTHUMP00000161089;OTTHUMP00000207740;ankyrin repeat domain-containing protein 39 protein-coding ENSG00000213337 28640 14614 VALIDATED 1602991 ANKRD40 ankyrin repeat domain 40 17 17 17 q21.33 45231886 45246618 - 46127682 46140262 - 48770551 48785270 - 6480464 15489334;12477932;19913121;20628086;17207965;22863883;21906983;21139048;21942715;19322201 91369 A8IK34;K7ERW4;Q6AI12 ABBA01041244;AC005921;AK314010;AMYH01008475;BC005853;BC012978;CH471109;CR627413;EU164539;NM_052855 AAH12978;ABW05020;ADQ32683;BAG36721;CAH10502;EAW94589;NP_443087;Q6AI12 Hs.463426 5016478 GDB:434012 DKFZp451K241;MGC15396 OTTHUMP00000221729;ankyrin repeat domain-containing protein 40 protein-coding ENSG00000154945 28233 17502 VALIDATED 1605233 ANKRD42 ankyrin repeat domain 42 11 11 11 q14.1 80214956 80269666 + 82582939 82637661 + 82905291 82960013 + 6480464 17123353;15489334;14702039;12477932;22118674;21906983 338699 E9PIL2;E9PKE2;E9PP91;E9PR10;F8W6I9;H0YE80;Q8N9B4 ABBA01017362;AK095193;AK310765;AMYH01003839;AP000873;BC045621;BC062729;BC171752;BX648690;CA447533;CH471076;DQ508815;DQ508934;EF041819;NM_182603 AAH45621;AAH62729;ABF57994;ABF60230;ABL09300;BAC04496;EAW75086;EAW75087;NP_872409;Q8N9B4 Hs.503438;Hs.657164 1700012;1737643;2174205;5016679 A004Q14;D11S3248;RH103618;RH70808 FLJ37874;SARP OTTHUMP00000235034;OTTHUMP00000235036;OTTHUMP00000235037;OTTHUMP00000235038;ankyrin repeat domain-containing protein 42;several ankyrin repeat protein protein-coding ENSG00000137494 26752 08230 VALIDATED 1606657 ANKRD45 ankyrin repeat domain 45 1 1 1 q25.1 146686889 146748471 - 171844098 171905624 - 173577475 173639001 - 16710414;14702039;12477932;21832049 339416 Q5TZF3 ABBA01027902;ABBA01027903;AK127170;AL139142;AMYH01001503;AMYH01001504;BC029866;BC126353;BC126355;BX248409;CH471067;NM_198493 AAI26354;AAI26356;ADR82913;BAC86865;EAW90950;NP_940895;Q5TZF3 Hs.130054 1648097;1704218;5037552 D8S2279;GDB:1317994;SHGC-83129 CT117;FLJ45235;MGC161631;MGC161633;RP3-436N22.4 OTTHUMP00000038346;ankyrin repeat domain-containing protein 45;cancer/testis antigen 117 protein-coding 24786 13501 VALIDATED 1605602 ANKRD44 ankyrin repeat domain 44 2 2 2 q33.1 191615131 191818640 - 197567495 197771007 - 197851386 198175521 - 6480464 16555005;18186651;19240061;15489334;14702039;12477932;19596235;20379614;22990118;21187329 91526 B7Z6Z7;C9JY51;F5H682;F8WBW3;H7BXV4;H7C209;H7C3P1;H7C4A0;J3KN93;Q8N8A2 ABBA01062465;ABBA01062466;ABBA01062467;ABBA01062468;AC010746;AC013264;AC017035;AC074092;AI439698;AK021632;AK097086;AK124039;AK301209;AL133087;AMYH01011388;BC016985;BC050586;BC063622;CH471063;NM_001195144;NM_153697 AAH16985;AAH50586;AAH63622;AAX93155;AAY15060;BAC04946;BAH13433;CAB61404;EAW70141;EAW70142;NP_001182073;NP_710181;Q8N8A2 Hs.432706 1652267;1658405;1666191;1677925;1679389;1700264;1734958;1754445;1778775;2165524;2178505;5022450;5037552 A008Y34;AFMa121yh1;D10S275;D2S1710E;D2S2651;D2S2667;D8S2279;RH103749;RH93013;RH94357;SHGC-132573;SHGC-17220;SHGC-36159 FLJ11570;MGC21968;MGC70444;PP6-ARS-B OTTHUMP00000205625;OTTHUMP00000205626;OTTHUMP00000205627;OTTHUMP00000205628;PP6-ARS-B;ankyrin repeat domain-containing protein 44;protein phosphatase 6 ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B;serine/threonine-protein phosphatase 6 regulatory subunit ARS-B protein-coding ENSG00000065413 25259 14284 VALIDATED 4889255 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 10 10 41650079 41650804 - 45646888 45647613 - 100419962 ABBA01050025;AL358394;AMYH01002298;NG_025432 pseudo 39214 INFERRED 3476309 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 Y Y q11.1 11783546 11784836 - 13323668 13324836 - 100131984 AC134878;NG_022994 2111288 D17S837 pseudo 37984 INFERRED 1606551 ANKRD49 ankyrin repeat domain 49 11 11 11 q21 91514963 91520554 + 93866801 93872392 + 94227153 94232744 + 6480464 15489334;14702039;12477932;11371508;11162141;16131492;19773279;17207965 54851 F5GWD9;F5H227;F5H3B3;F5H7L0;F6R851;Q8WVL7 ABBA01040029;AF025354;AK000196;AK000448;AK057696;AL833977;AMYH01003965;AP000786;AP000943;BC017798;BG025192;CH471065;NM_017704 AAH17798;AAK60412;ACE86482;ACE87163;ADQ32155;BAA91003;CAD38821;EAW66935;EAW66936;NP_060174;Q8WVL7 Hs.29052 1689682;1772028;1788090;1788100;2156266 G67220;G67298;RH68924;SHGC-35949;STS-R70005 FGIF;FLJ20189;FLJ20441;GBIF OTTHUMP00000236878;OTTHUMP00000236884;OTTHUMP00000236885;ankyrin repeat domain-containing protein 49;fetal globin-inducing factor protein-coding ENSG00000168876 25970 16893 VALIDATED 1606443 ANKRD46 ankyrin repeat domain 46 This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 8 8 8 q22.2 97718378 97757379 - 101602176 101641188 - 101521980 101572014 - 6480464 15489334;14702039;12477932;9110174;8619474;21041692;21139048;21890473;21906983;19322201;11297942;15152081;16344560;17176038;21219636;22559327;22053931 157567 B3KT99;E5RFM7;E5RHV2;E5RI04;E5RI20;J3KP26;Q86W74 AB077205;ABBA01037578;AK095235;AL832842;AMYH01018927;AP000424;BC015811;BC035087;BC050396;BC060843;CH471060;DA503253;NM_001270377;NM_001270378;NM_001270379;NM_198401;U79297 AAH50396;AAH60843;BAD23947;BAG53011;CAI46169;EAW91808;EAW91809;EAW91810;EAW91811;NP_001257306;NP_001257307;NP_001257308;NP_940683;Q86W74 Hs.744045 1646744;1690097;1773853;1773939;1848284;2154363;2154365;5094908 A005E22;A005P20;ANKRD46;D8S2126;G20396;HSCZOG032;RH15880;RH93372 ANK-S;GENX-115279 ANK-S;OTTHUMP00000227299;OTTHUMP00000227300;OTTHUMP00000227301;OTTHUMP00000227302;OTTHUMP00000227304;ankyrin repeat domain-containing protein 46;ankyrin repeat small protein APPROVED protein-coding ENSG00000186106 27229 14103 REVIEWED 1603620 ANKRD50 ankyrin repeat domain 50 4 4 4 q28.1 122965825 123014509 - 125804916 125851382 - 125585203 125633887 - 6480464 14702039;12477932;10574462;21832049 57182 Q8TB46;Q9ULJ7 AA628892;AB033049;ABBA01044769;AC105421;AF075020;AK091516;AK127496;AK291068;AK295135;AL110131;AMYH01014501;BC024725;BE887185;BX508307;BX640674;CD359799;CH471056;CX871714;NM_001167882;NM_020337 AAH24725;ADZ15484;BAA86537;BAC87007;BAF83757;BAG58158;CAE45806;EAX05206;NP_001161354;NP_065070;Q9ULJ7 Hs.480694 1645736;1687672;1772216;2147810;2175273;2180036 D4S3303;G09526;RH99075;SHGC-36222;SHGC-50186;STS-R72441 KIAA1223 OTTHUMP00000220148;OTTHUMP00000220149;ankyrin repeat domain-containing protein 50 protein-coding ENSG00000151458 29223 13843 VALIDATED 7111868 ANKRD61 ankyrin repeat domain 61 p22 12853948 100310846 A6NGH8 AC005995;AI221268;NM_001271700 A6NGH8;NP_001258629 ankyrin repeat domain-containing protein 61 protein-coding 22467 INFERRED 1315900 ANKRD60 ankyrin repeat domain 60 20 20 20 q13.32 53533993 53544127 - 56226957 56237445 - 56793551 56804039 - 6480464 11780052;19893584;19913121;20628086 140731 H7BY81;Q9BZ19 ABBA01005981;AL354776;AMYH01012016;CH471077;XM_001134442;XM_001717339;XM_003960791 EAW75502;Q9BZ19;XP_001134442;XP_001717391;XP_003960840 1683499 RH45766 C20orf86;bA196N14.3 OTTHUMP00000031385;ankyrin repeat domain-containing protein 60;chromosome 20 open reading frame 86 protein-coding 16217 12788 MODEL 1601705 ANKRD52 ankyrin repeat domain 52 12 12 12 q13.3 56284485 56305031 - 54917858 54938410 - 56631591 56652143 - 6480464 18186651;16964243;16541075;14702039;12975309;12477932;19913121;20628086;19596235;19615732;21187329;22586326;22505724 283373 B3KWN0;Q8NB46 AB190990;ABBA01008412;ABBA01008413;ABBA01008414;AC073896;AK056831;AK125379;AK126893;AMYH01004502;AY358160;BC024309;BC042070;CH471054;DR002390;NM_173595 AAQ88527;BAG16262;BAG54192;EAW96919;NP_775866;Q8NB46 Hs.524506 1644667;1686054 RH98394;SGC34394 ANKRD33;FLJ34236 CVWG5837;OTTHUMP00000243511;PP6-ARS-C;ankyrin repeat domain 33;ankyrin repeat domain-containing protein 52;protein phosphatase 6 ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C;serine/threonine-protein phosphatase 6 regulatory subunit ARS-C protein-coding ENSG00000139645 26614 VALIDATED 2302254 ANKRD62 ankyrin repeat domain 62 18 18 18 p11.21 11976190 12012264 + 12084059 12117938 + 12093848 12129763 + 342850 A6NC57;J3QTZ2;K7EQA3 ABBA01074010;AMYH01008822;AMYH01008823;AP002414;BX648696;BX649021;CH471113;DW010010;DW010011;EG328348;NM_001277333;XM_001715728;XM_003118756;XM_003959949;XM_003960744;XM_003960745;XM_003960888 A6NC57;EAX01556;EAX01557;NP_001264262;XP_001715780;XP_003118804;XP_003959998;XP_003960793;XP_003960794;XP_003960937 Hs.448906 1786048;5014051;5037552 D8S2278;D8S2279;SHGC-155539 DKFZp686E2239;DKFZp779B1634 ankyrin repeat domain-containing protein 62 protein-coding ENSG00000181626 35241 VALIDATED 5132170 ANKRD63 ankyrin repeat domain 63 15 15 15 q15.1 17339637 17340779 - 38360937 38362079 - 40573645 40574787 - 100131244 C9JTQ0 ABBA01038455;AC020658;AMYH01006558;AMYH01006559;BF940541;NM_001190479 C9JTQ0;NP_001177408 Hs.711376 ankyrin repeat domain 63;ankyrin repeat domain-containing protein 63 protein-coding ENSG00000230778 40027 PROVISIONAL 7204990 ANKRD66 ankyrin repeat domain 66 6 p12.3 46714654 46726955 + 8889548 100287718 B4E2M5;H3BTF0 ABBA01050614;AK304342;AL161618;AL451143;AMYH01016329;BU608132;DC417416;NM_001162435 B4E2M5;BAG65187;NP_001155907 Hs.736491 ankyrin repeat domain-containing protein 66;hypothetical protein LOC100287718 protein-coding ENSG00000230062 44669 VALIDATED 1605329 ANKRD53 ankyrin repeat domain 53 2 2 2 p13.3 71056255 71063308 + 71059083 71065979 + 71205575 71212629 + 6480464 16344560;15489334;14702039;12477932;20211142 79998 C9JQK2;C9JZ61;Q8N9V6 ABBA01075545;AC007040;AK022118;AK093479;AMYH01010425;BC035234;CH471053;DB036445;NM_001115116;NM_024933 AAH35234;BAC04181;EAW99786;EAW99787;EAW99788;EAW99789;NP_001108588;NP_079209;Q8N9V6 Hs.512744 1649349;1789242;5022322;5037552 D11S2560;D8S2279;G65621;RH47589 FLJ12056;FLJ36160 OTTHUMP00000160126;OTTHUMP00000203459;OTTHUMP00000203460;OTTHUMP00000203461;ankyrin repeat domain-containing protein 53 protein-coding ENSG00000144031 25691 07762 VALIDATED 1605877 ANKRD54 ankyrin repeat domain 54 22 22 22 q13.1 22028653 22042127 - 36556808 36570249 - 38226862 38240353 - 6480464 15489334;15461802;14702039;12477932;10591208;22527282 129138 B5MCX7;C9JU48;C9JX82;D3YTC9;F8WB76;H7BZV9;H7C3L3;Q6NXT1 ABBA01055489;ABBA01055490;AK127583;AMYH01012757;BC014641;BC066909;BX401122;CD300696;CH471095;CR456471;NM_138797;NR_036556;Z97630 AAH14641;AAH66909;BAC87043;CAG30357;EAW60192;EAW60193;EAW60194;NP_620152;Q6NXT1 Hs.135259 2173725;2175739;2181145 A006R14;G28411;HSC1OE012 LIAR OTTHUMP00000198179;OTTHUMP00000198181;OTTHUMP00000198182;OTTHUMP00000198183;OTTHUMP00000198184;OTTHUMP00000198186;ankyrin repeat domain-containing protein 54;lyn-interacting ankyrin repeat protein protein-coding ENSG00000100124 25185 14042 613383 VALIDATED 1605952 ANKRD55 ankyrin repeat domain 55 5 5 5 q11.2 52349365 52481877 - 55431264 55564943 - 55395507 55529186 - 6480464 16344560;15489334;15372022;14702039;12477932;20453842;21383967;20211142;20080650;20686565;22130326;23535033;23128233;23263486;23382691;23457408 79722 D6R9N4;D6RBD3;Q3KP44 ABBA01015761;ABBA01015762;AC016585;AC016638;AK021857;AK123389;AMYH01015096;AW269928;BC106914;BC106915;CH471123;DA292581;NM_024669 AAI06915;AAI06916;BAB13916;BAG53900;EAW54941;NP_078945;Q3KP44 Hs.436214 1340434;1652121;1654241;1659837;1680042;1681708;1729654;1767769;2128625;2166710;2179445 A006Y08;D5S1547;D5S1739;D5S1966;D5S354;G16892;G19195;RH64979;RH80632;SGC30290;WI-13498 FLJ11795;MGC126013;MGC126014 OTTHUMP00000221878;OTTHUMP00000221879;ankyrin repeat domain-containing protein 55 protein-coding ENSG00000164512 25681 07758 615189 VALIDATED 5508531 ANKRD65 ankyrin repeat domain 65 1 1 p36.33 1343663 1346248 - 1353800 1356824 - 6480464 11181995;12477932;2302192 441869 E5RJM6;H0YAR0 ABBA01016038;ABBA01016039;AI094806;AI522076;AL391244;AMYH01000132;BC018095;BC063445;BC073150;BC094869;CH471183;M32220;NM_001145210;NM_001243535;NM_001243536 ACE86612;ACE87293;E5RJM6;EAW56204;EAW56205;NP_001138682;NP_001230464;NP_001230465 Hs.381222 ankyrin repeat domain 65;ankyrin repeat domain-containing protein 65;hypothetical protein LOC441869;uncharacterized protein LOC441869 protein-coding ENSG00000235098 42950 VALIDATED 1317569 ANKRD6 ankyrin repeat domain 6 6 6 6 q14.2-q16.1 90561418 90762379 + 90199616 90400124 + 90142897 90343553 + 6480464 17592114;14702039;14574404;12477932;12203740;12183362;10231032;8889548;19591803;20736409;22580979;21810271 22881 B7Z3D2;E5RH98;E5RIJ4;E5RIN9;E5RIS1;E5RJ05;E5RJ45;E5RJR9;H0YBG4;H0YBH4;H0YBW6;Q9Y2G4 AB023174;ABBA01040530;ABBA01040531;ABBA01040532;ABBA01040533;AK021550;AK022699;AK074189;AK092235;AK096867;AK295731;AK307792;AL096678;AL117504;AL136971;AL138717;AL159174;AMYH01016502;BC001078;BC042173;BM974140;CH471051;DC317010;DN999929;GU727626;NM_001242809;NM_001242811;NM_001242813;NM_001242814;NM_014942 AAH01078;AAH42173;ADU87628;BAA76801;BAG52502;BAG53385;BAH12168;CAB55968;EAW48550;EAW48551;EAW48552;EAW48553;NP_001229738;NP_001229740;NP_001229742;NP_001229743;NP_055757;Q9Y2G4 Hs.702213 1660803;1669043;1670718;1673271;1674763;1682395;1694544;1700988;1710704;1720013;1853622;2124222;2132657;2164580 A007K15;D6S1132E;D6S2078;D6S2196;G43165;RH104121;RH123984;RH46665;RH46749;RH46755;SHGC-79641;STS-AA025624;STS-N40186;WI-13908 DIVERSIN;FLJ12637;FLJ34916 OTTHUMP00000016855;OTTHUMP00000016856;OTTHUMP00000225479;OTTHUMP00000225480;OTTHUMP00000225481;ankyrin repeat domain-containing protein 6;diversin protein-coding ENSG00000135299 17280 09798 610583 VALIDATED 1352130 ANKRD7 ankyrin repeat domain 7 7 7 7 q31 112674150 112692226 + 117651953 117669982 + 117864712 117882785 + 1580863;6480464 8812458;15489334;15342556;12853948;12477932;9847074;22613542;16169070 56311 C9J2M7;C9JIJ7;Q92527 AA435914;AACC02000001;ABBA01057789;ABBA01057790;AC004029;AC006389;AC007874;AI126287;AI149744;AK302407;AMYH01017889;BC007020;BC032799;BP369869;CH236947;CH471070;D78334;DB442002;DB447815;NM_019644 AAB97503;AAF19231;AAH07020;AAH32799;BAA11348;BAG63717;EAW83538;EAW83539;NP_062618;Q92527 Hs.729340 2162142 AFMa073zb9 TSA806 OTTHUMP00000211148;OTTHUMP00000211149;OTTHUMP00000211150;ankyrin repeat domain-containing protein 7;testis-specific ankyrin motif containing protein;testis-specific protein TSA806 protein-coding ENSG00000106013 18588 610731 VALIDATED 1316983 ANKRD9 ankyrin repeat domain 9 14 14 14 q32.31 83027430 83030360 - 102042951 102045881 - 102973198 102976128 - 6480464 15489334;12508121;12477932 122416 H0YM08;H0YNN1;Q96BM1 ABBA01048474;ABBA01048475;AK291868;AL136293;AMYH01006031;BC015422;BC027479;BX161460;CH471061;NM_152326 AAH15422;AAH27479;ABM82613;ABM85797;BAF84557;CAD61921;EAW81791;EAW81792;NP_689539;Q96BM1 Hs.432945 1671983;2117256;2135190;2138959;2156786;2175544;5019819 A003P27;A004S19;A009Y10;Bdab1d07;G27983;G32972;RH15690 MGC21990 OTTHUMP00000246829;ankyrin repeat domain-containing protein 9 protein-coding ENSG00000156381 20096 12467 PROVISIONAL 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 16 16 16 p13.3 4955291 4992944 - 4686514 4724164 - 4746511 4784378 - 6480464 17081983;16964243;16713569;14702039;12477932;11853319 124401 D3DUE4;K7EJS9;K7EJX3;K7EJY2;K7EKD2;K7ELP3;K7ELU8;K7EM53;K7EPL7;K7EPP4;K7EPY5;K7EQE0;K7ERF3;K7ERR7;K7ERY3;Q6ZW76;Q6ZWA7 AB075857;ABBA01026783;ABBA01026784;AC020663;AC023830;AI560632;AK056907;AK057329;AK123371;AK123496;AK301683;AMYH01007107;BC031350;BC032314;BC050387;BM545219;BX333650;CH471112;DR004376;NM_001242929;NM_133450;NR_040252 AAH50387;BAB85563;BAC85597;BAC85629;BAG51903;BAG63156;EAW85269;EAW85270;EAW85271;EAW85272;EAW85273;EAW85274;EAW85275;NP_001229858;NP_597707;Q6ZW76 Hs.654859 5037552 D8S2279 FLJ32345;FLJ32767;KIAA1977 OTTHUMP00000159853;ankyrin repeat and SAM domain-containing protein 3 protein-coding ENSG00000168096 29422 13909 VALIDATED 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 q23.1 97653202 98902563 - 99128569 100378432 - 6480464 16386788;15862129;15347684;15004329;12837293;12700034;12508107;12477932;12415113;10490826;20205790;16537434;19666031;19721433;19851462;20161521;20379614;19913121;20578947;20628086;20966902;21107309;15342556;16344560;17875921;20100865;21832049;16769578;16273093;22959728;23251661;23319000;23453885 56899 B1VKB5;B7Z9I9;F5GX70;F8VR14;F8VVQ4;H0YI72;H0YJZ1;J3QSU0;Q6V0K8;Q9NRX7;R4GMN5;R4GMQ4;R4GMS8;R4GN07;R4GN70;R4GN73;R4GN78;R4GNJ0 ABBA01053268;ABBA01053269;ABBA01053270;ABBA01053271;ABBA01053272;ABBA01053273;ABBA01053274;ABBA01053275;ABBA01053276;ABBA01053277;ABBA01053278;ABBA01053279;ABBA01053280;ABBA01053281;AC008126;AC011248;AC021653;AC048330;AC069437;AC078916;AC079954;AC084374;AC117377;AC126616;AC141554;AC141555;AC141556;AF145204;AF164792;AK124453;AK289768;AK294191;AK294994;AK295988;AK315954;AM980945;AMYH01004693;AY281131;AY281132;AY283057;AY356353;AY620824;AY753193;BC026313;BC068451;BC091512;BC142669;BC150204;BG338019;BP193713;BQ614098;BU568171;D80328;DA183756;DA690060;DA783474;DB475766;NG_029860;NM_001204065;NM_001204066;NM_001204067;NM_001204068;NM_001204069;NM_001204070;NM_001204079;NM_001204080;NM_001204081;NM_020140;NM_152788;NM_181670 AAD33951;AAF80756;AAH26313;AAH68451;AAI42670;AAI50205;AAI60005;AAP37612;AAP37613;AAP38184;AAQ56189;AAT39519;AAV28691;BAF82457;BAG57507;BAG58059;BAG58763;BAH14325;CAQ37746;NP_001190994;NP_001190995;NP_001190996;NP_001190997;NP_001190998;NP_001190999;NP_001191008;NP_001191009;NP_001191010;NP_064525;NP_690001;NP_858056;Q7Z6G8 Hs.506458 1337135;1338191;1339926;1341845;1649052;1651345;1652104;1665911;1704332;1714549;1722867;1732705;1736260;1739131;1761105;1774124;2106951;2125687;2125689;2128287;2129565;2144268;2157925;2175223;2187253;5092004;5095038;7183696 APAF1_7746;D12S1058;D12S1059;D12S1082;D12S1098;D12S1099;D12S1100;D12S1218E;D12S1355;D12S1600;D12S346;D12S58;D12S836;D5S1886;G17651;G60526;RH119788;RH46329;RH47349;RH47351;RH69665;SHGC-145114;SHGC-78121;SHGC-78132;STS-D51799;TKY831;WI-21542 AIDA;AIDA-1;ANKS2;EB-1;EB1;MGC26087;cajalin-2 E2a-Pbx1-associated protein;OTTHUMP00000243457;OTTHUMP00000243458;OTTHUMP00000243459;OTTHUMP00000243460;OTTHUMP00000243461;OTTHUMP00000243462;OTTHUMP00000243463;OTTHUMP00000243464;OTTHUMP00000243466;OTTHUMP00000243467;OTTHUMP00000243468;amyloid-beta precursor protein intracellular domain associated protein 1;amyloid-beta protein intracellular domain-associated protein 1;ankyrin repeat and sterile alpha motif domain-containing protein 1B;cajalin 2 APPROVED protein-coding ENSG00000185046 24600 07426 607815 REVIEWED 1606413 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B 16 16 16 p12.2 20559328 20578058 + 21152517 21171251 + 21245016 21263750 + 6480464 15461667;14702039;12588794;12477932;21832049 257629 Q8N8V4 ABBA01028294;AF001550;AK096138;AMYH01007348;BC111784;BC112368;CH471228;NM_145865 AAI60087;BAC04707;EAW66861;NP_665872;Q8N8V4 Hs.115959 1738683;5015861;7185938 D10S16;D16S2797 FLJ38819;HARP;MGC133380;MGC133381 ankyrin repeat and SAM domain-containing protein 4B;harmonin-interacting ankyrin repeat-containing protein;harmonin-interacting ankyrin-repeat containing protein protein-coding ENSG00000175311 26795 08794 609901 VALIDATED 6481331 ANO1-AS1 ANO1 antisense RNA 1 100873981 AP000879 APPROVED miscrna 40016 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 6 6 6 p21.31 36411475 36613603 + 34965016 35167168 + 34857038 35059190 + 6480464 15324660;17353931;18391951;15500253;15489334;15345747;15302935;14574404;12477932;12439753;9039502;8889548;15778465;19913121;20546612;20628086;20659327;10958799;20379614;21529783;21378990;22863883;18029348;20100865;22332920;22291991;16273093;23144319;23239578;23251661 23294 B4DQW8;Q05CP0;Q92625 ABBA01038214;ABBA01038215;ABBA01038216;ABBA01038217;ABBA01038218;AK025381;AK298987;AL033520;AL138721;AL591002;AMYH01016263;BC022396;BC031934;BC049213;BC132832;BC144341;BF592042;BQ216321;BU676295;BX094969;CH471081;D86982;NM_015245 AAH22396;AAH31934;AAI32833;BAA13218;BAG61080;EAX03800;EAX03801;EAX03802;EAX03803;EAX03804;NP_056060;Q92625 Hs.656492 1644953;1651165;1680811;1724585;1774793;1858319;2118283;2166924;2181903;2183616;2191307 MARC_17239-17240:1023900206:1;RH121289;RH25435;RH36210;RH36455;RH40967;RH45580;SHGC-34024;STS-N22435;STS-R07970;WIAF-1586 ANKS1;KIAA0229;MGC42354 OTTHUMP00000016243;Odin;ankyrin repeat and SAM domain containing 1;ankyrin repeat and SAM domain-containing protein 1A protein-coding ENSG00000064999 20961 10610 608994 VALIDATED 3436177 ANO1-AS2 ANO1 antisense RNA 2 (head to head) 11 11 q13.3 67185224 67188225 - 69918540 69921541 - 100009613 ABBA01010299;AMYH01003775;AP003555;AW592641;EF419887;HY053628;NR_103835;XR_110889;XR_111195;XR_132466;XR_171903 Hs.131238;Hs.743025 C11orf78;NCRNA00224 APPROVED miscrna ENSG00000254417 33275 VALIDATED 1321890 ANO1 anoctamin 1, calcium activated chloride channel 11 11 q13.3 69602294 69713282 + 69924408 70035651 + 737633;6480464 12477932 19015192;19011564;18772398;18724360;18648740;15067359;14702039;12739008;22335248;22685202;21295818;21349842;19372102;19606013;19654323;19687122;19773279;19819874;19823864;21092923;20716167;20716168;21041307;19913121;20628086;22571292;21084298;22415075;21350101;22526416;23034390;21645494;21358619;23570556;21585622;21756825;21940901;22912841;22988141;23431153;22699056;22399613;22197035;21906983;22178883;22564524;21965629;22495382;22946562;22973054;23576756;23038686;23104560;22351639;22460810 55107 E9PNA7;E9PP68;E9PS90;F5H566;H0YDD9;Q5XXA6;Q9NW72 ABBA01010299;ABBA01010300;AI694083;AK001123;AK097619;AK293088;AK303971;AL833582;AMYH01003775;AMYH01003776;AP000879;AY728143;BC027590;BC033036;CF593428;CH471076;DB445158;DB450993;HQ418153;NM_018043;NR_030691 AAH27590;AAH33036;AAU82085;ADP09411;BAA91513;BAC05123;BAF85777;BAH14087;EAW74757;EAW74758;EAW74759;NP_060513;Q5XXA6 Hs.503074 1681572;2109975;2166265 RH48109;RH92087;TMEM16A_9873 DOG1;FLJ10261;ORAOV2;TAOS2;TMEM16A OTTHUMP00000235453;OTTHUMP00000235456;OTTHUMP00000235457;anoctamin-1;discovered on gastrointestinal stromal tumors protein 1;oral cancer overexpressed 2;oral cancer overexpressed protein 2;transmembrane protein 16A (eight membrane-spanning domains);tumor amplified and overexpressed sequence 2;tumor-amplified and overexpressed sequence 2 protein-coding ENSG00000131620 21625 18202 610108 VALIDATED 1348688 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 3 3 3 q25.1 147892237 147923960 - 150961961 150993243 - 149478887 149510610 - 14702039;12477932;8889548 389161 A6NFN9;B4E2N8;C9JND2;E9PHT4 ABBA01058939;AC069216;AK027233;AK098078;AK304359;AMYH01013572;BC171805;BU686654;NM_001144960 A6NFN9;BAG53578;BAG65200;NP_001138432 Hs.665988 1715549;2175886 D3S2401;RH120916 C3orf16;FLJ40759 OTTHUMP00000216004;ankyrin repeat and ubiquitin domain containing 1;ankyrin repeat and ubiquitin domain-containing 1;hypothetical protein LOC389161;protein ANKUB1 APPROVED protein-coding ENSG00000206199 29642 PROVISIONAL 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 9 9 9 q22.33 72008186 72066777 - 100534112 100598615 - 101494291 101558794 - 6480464 18029348;18978678;18434273;15489334;15164053;14702039;12477932;21832049 203286 B3KXP1;F5H7X9;H7C163;Q8N9L6 ABBA01042909;ABBA01042910;ABBA01042911;AK074328;AK094247;AK126614;AK127702;AL353782;AL807776;AMYH01021564;BC012981;BC064367;CH471105;CR749467;CR749472;DQ309777;DQ309778;DQ309779;DQ309780;DQ309781;DQ309782;DQ309783;DQ309784;DQ309785;DQ309786;DQ309787;DQ309788;DQ309789;DQ309790;DQ309791;NM_173551 AAH64367;ABC48694;BAC04317;BAG54553;CAH18298;CAH18302;EAW58892;EAW58893;EAW58894;EAW58895;NP_775822;Q68DC2 Hs.406890 1664012;2114056;2127692;2162649 AB046634;D9S2093;RH15962;SHGC-4650 ANKRD14;DKFZp686D24121;DKFZp781I0117;MGC70366;SAMD6 OTTHUMP00000021780;OTTHUMP00000179114;SAM domain-containing protein 6;ankyrin repeat and SAM domain-containing protein 6;ankyrin repeat domain 14;ankyrin repeat domain-containing protein 14;samCystin;sterile alpha motif domain containing 6;sterile alpha motif domain-containing protein 6 protein-coding ENSG00000165138 26724 18012 PROVISIONAL 1318896 ANO3 anoctamin 3 11 11 11 p14.2 26498680 26830111 + 26310254 26641412 + 26353678 26684836 + 1580863;6480464 19015192;16344560;15067359;12739008;19553259;20379614;22657408;23200863 63982 B7Z3F5;E9PKW2;E9PQ79;Q9BYT9 ABBA01060980;ABBA01060981;ABBA01060982;AC021698;AC036114;AC079064;AC083755;AJ300461;AK295143;AK295658;AK295816;AK302659;AK304781;AK316018;AMYH01003455;AMYH01003456;BQ430769;CH471064;DA247850;NM_031418;X81896 AAI72396;BAH11989;BAH12144;BAH12191;BAH13772;BAH14255;BAH14389;CAC32454;EAW68296;NP_113606;Q9BYT9 Hs.91791 1340365;1660766;1668872;1697210;1701100;1720019;1721669;1721747;1732169;1737125;1755633;1769744;1772162;1772958;2113970;2127562;2133135;2141072;2142451;2166356;2167132;2171297;2178114;2218840;7186472 A004R23;AB048919;D11S1568;D11S2279E;D11S2364;D11S2373;D11S2949;D11S3990;D11S4348;D11S904;G02339;G30236;G59741;G59845;RH102097;RH104178;RH123987;RH16157;RH16467;RH35938;RH78143;SGC34286;SHGC-142486;TMEM16C__5280 C11orf25;DYT23;DYT24;GENX-3947;TMEM16C OTTHUMP00000231884;OTTHUMP00000231886;OTTHUMP00000232233;anoctamin-3;transmembrane protein 16C (eight membrane-spanning domains) protein-coding ENSG00000134343 14004 15526 610110;615034 VALIDATED 1602704 ANKZF1 ankyrin repeat and zinc finger domain containing 1 2 2 2 q35 213864186 213871098 + 219802723 219809635 + 220094479 220101391 + 6480464 17081983;16964243;16344560;16169070;15489334;14702039;12477932;8125298;20211142;21832049;21896481;21900206;21914798 55139 B8ZZS4;C9J5H7;C9JQZ3;C9JS61;C9K022;F8WD44;Q9H8Y5 ABBA01023845;ABBA01023846;AC068946;AF364318;AK001277;AK023206;AK056060;AK095304;AK098282;AK225275;AK225309;AK303077;AK303537;AMYH01011505;BC000238;BC008948;BC028334;CH471063;DA226194;DA899467;DQ412564;NM_001042410;NM_018089 AAH00238;AAH08948;ABD65410;BAA91596;BAB14462;BAG64193;BAG64563;EAW70708;EAW70709;EAW70710;NP_001035869;NP_060559;Q9H8Y5 Hs.437647 1655278;1663635;2142422;2183384;5015619;5016478;5022200;5037552 D11S3114;D2S1807;D8S2279;GDB:434012;L18426;RH12093;SHGC-32531;WI-15771 FLJ10415;FLJ13144;ZNF744 OTTHUMP00000205941;OTTHUMP00000205942;OTTHUMP00000205943;ankyrin repeat and zinc finger domain-containing protein 1;zinc finger protein 744 protein-coding ENSG00000163516 25527 07673 VALIDATED 1342534 ANO5 anoctamin 5 This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 11 11 11 p14.3 22346769 22437966 + 22171298 22257975 + 22214722 22304913 + 6480464;7240710 22336395;19015192;15457408;15124103;15067359;14702039;8889548;20692837;20096397;21186264;17008331;22980764;23055322;21906983;22402862;22499103;20301582;22742934;23453885 203859 Q75V66 AB125267;ABBA01061015;AC104009;AC107886;AK092680;AK125046;AL832374;AL833271;AMYH01003438;BU742779;CH471064;N89918;NG_015844;NM_001142649;NM_213599 AAI56326;AAI72489;BAD17859;EAW68325;NP_001136121;NP_998764;Q75V66 Hs.154329 1676314;1697114;1749229;1856446;2143812 D11S1120;RH102041;RH66694;RH91889;SHGC-110910 GDD1;LGMD2L;TMEM16E OTTHUMP00000231795;anoctamin-5;gnathodiaphyseal dysplasia 1 protein;integral membrane protein GDD1;limb girdle muscular dystrophy 2L (autosomal recessive);transmembrane protein 16E APPROVED protein-coding ENSG00000171714 27337 10558 166260;608662;611307;613319 REVIEWED 1352763 ANO2 anoctamin 2 ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011] 12 12 12 p13.3 7292577 7675047 - 5542081 5925659 - 5671817 6055398 - 1580863;6480464 21697133;19561302;19474308;19165232;19015192;17371490;16344560;15067359;14702039;12739008;8889548;20379614;23570556;18029348;21906983;23251661;23382691 57101 F5GXT3;F5H806;Q9NQ90 AB593159;ABBA01017624;ABBA01017625;ABBA01017626;ABBA01017627;AC006431;AC006560;AC137627;AJ272204;AK024010;AL137419;AMYH01004199;AMYH01004200;BE645295;BM710588;BQ025064;CH471116;DB071682;FJ384095;NM_001278596;NM_001278597;NM_020373 AAI52769;ACL36050;BAB14773;BAJ84091;CAC01125;CAH10704;EAW88819;EAW88820;EAW88821;NP_001265525;NP_001265526;NP_065106;Q9NQ90 Hs.148970 1335356;1335608;1656729;1672953;1705088;1705516;1707608;1711386;1722751;1736856;1736872;1777959;1782542;2123202;2131735;2140767;2176876;2179628;2218838;5014053;5107135;5109549 AFMb052yg5;D12S1262;D12S1265;D12S1673;D12S374;D1S3693;D21S1698;G41269;G41792;G42175;G60314;G65694;RH47566;RH66488;SHGC-10475;SHGC-10476;SHGC-106968;SHGC-31150;SHGC-78069;SHGC-83855;SHGC-84619;TMEM16B__5279 C12orf3;DKFZp434P102;TMEM16B OTTHUMP00000238430;anoctamin-2;transmembrane protein 16B (eight membrane-spanning domains) APPROVED protein-coding ENSG00000047617 1183 11634 610109 VALIDATED 1320339 ANLN anillin, actin binding protein 7 7 p15-p14 36395957 36459925 + 36429432 36493400 + 1580863;6480464 10931866;18158243;17081983;16964243;16357138;16203764;16129829;16040610;15800069;15635413;15616196;15496454;15489334;15302935;14702039;12637748;12479805;12477932;21109967;17643375;19995712;22939629;19596686;20360068;21849473;21139048;22514687;19531213 54443 C9J0G4;C9JJT6;H7C0Y6;H7C167;H7C1C2;H7C1K5;H7C3R2;H7C3S1;Q9NQW6 AACC02000036;ABBA01056905;AC006960;AF273437;AK001468;AK001472;AK023208;AK094574;AK291254;AK299803;AMYH01017181;BC034692;BC070066;BE885510;BQ434804;BU630923;CH236951;CH471073;CR936650;CS401486;NM_018685 AAF75796;AAH34692;AAH70066;BAA91710;BAA91711;BAB14463;BAF83943;BAG61678;CAI56788;CAL40337;EAW94067;EAW94068;EAW94069;EAW94070;EAW94071;EAW94072;NP_061155;Q9NQW6 Hs.62180 1657004;1675931;1688887;1707808;1775133;2167894;2186918;5022681 ANLN;GDB:1317748;GDB:1318228;RH80333;RH91404;SHGC-36429;SHGC-82130;WI-15514 DKFZp779A055;Scraps;scra OTTHUMP00000126965;OTTHUMP00000206987;actin-binding protein anillin protein-coding ENSG00000011426 14082 09799 VALIDATED 1602957 ANO7P1 anoctamin 7 pseudogene 1 1 1 1 p36.13 15022766 15034829 - 16415461 16425381 - 16551832 16553713 - 645634 XM_001714143;XM_002342033 XP_001714195;XP_002342074 1855472;1855474;2112364 D1S3633;SHGC-74265;WI-14689 ANO7L1;C1orf224;FLJ33962;TMEM16M anoctamin 7 pseudogene 1;anoctamin 7-like 1;chromosome 1 open reading frame 224;transmembrane protein 16M APPROVED protein-coding 32248 MODEL 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) 7240710 1679229 289 498 1605667 ANO10 anoctamin 10 The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 3 3 3 p22.1 43345314 43601240 - 43382822 43638564 - 43407818 43663560 - 6480464 19015192;14702039;12477932;22008874;21963094;21987572;21890473;21906983;22527681;23251661 55129 C9IYD3;C9IZD0;C9J670;C9JA49;C9JH90;C9JHS1;C9JJS5;C9JPY2;C9JQC9;H7C3N6 AA252209;ABBA01024758;ABBA01024759;AC097638;AC104184;AC105903;AC135852;AK096302;AK131223;AK292368;AK295969;AK297949;AL832508;AMYH01013118;BC038855;CH471055;NG_028216;NM_001204831;NM_001204832;NM_001204833;NM_001204834;NM_018075 AAI56279;AAI57062;BAF85057;BAG53253;BAG54755;BAG58745;BAG60264;EAW64695;EAW64696;EAW64697;EAW64698;NP_001191760;NP_001191761;NP_001191762;NP_001191763;NP_060545;Q9NW15 Hs.656657 1336139;1342348;1661414;1707298;1712727;1716951;1739763;1759739;1777274;2147712 D3S3475E;D3S3647;D3S3678;HSC12B032;RH121060;RH121855;SHGC-150987;SHGC-76857;SHGC-79253;STS-R48504 FLJ10375;MGC47890;SCAR10;TMEM16K OTTHUMP00000164038;OTTHUMP00000164039;OTTHUMP00000209958;OTTHUMP00000209959;OTTHUMP00000209960;anoctamin-10;transmembrane protein 16K APPROVED protein-coding ENSG00000160746 25519 07667 613726;613728 REVIEWED 1321043 ANO4 anoctamin 4 12 12 12 q23.1 100853681 101187742 + 99712716 100046539 + 101188374 101522419 + 6480464 14702039;19015192;16344560;15067359;12739008;12477932;23535033 121601 F5H834;F8VUH1;F8VW62;Q32M45 ABBA01053247;ABBA01053248;ABBA01053249;AC063947;AC079953;AC125628;AC127893;AC138360;AC225709;AI140598;AK091540;AK091591;AK092596;AK293810;AK302962;AK316105;AMYH01004697;AMYH01004698;AMYH01004699;AMYH01004700;BC109308;CH471054;DA213819;DA811418;DC325277;NM_178826 AAI09309;BAC03688;BAC03704;BAC03924;BAH11602;BAH13859;BAH14476;EAW97645;EAW97646;EAW97647;NP_849148;Q32M45 Hs.58785 1338184;1682455;1752941;1768399;1773288;1779564;1853232;2115749;2159218;2174969;2179929;5017493 D12S1041;D12S1083;D12S1101;D12S1835;G17618;RH99125;SHGC-106784;SHGC-153536;SHGC-33403;SHGC-64282;TKY933;WI-15132 FLJ34221;FLJ34272;FLJ35277;MGC130026;TMEM16D OTTHUMP00000243883;OTTHUMP00000243884;anoctamin-4;transmembrane protein 16D protein-coding ENSG00000151572 23837 15527 610111 VALIDATED 5490864 ANP32AP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 15 15 q14 33316819 33317556 + 35529527 35530264 + 6480464 21906983 723972 Q1AHP8 ABBA01038506;AC107992;AMYH01006542;DQ083510;NR_003144 AAZ31261 Hs.631698 1684419;1688130 RH46906;RH70903 pseudo ENSG00000259516 42949 PROVISIONAL 1349559 ANO8 anoctamin 8 19 19 19 p13.11 17335762 17347370 - 17295034 17306638 - 17434032 17445638 - 6480464 19015192;15647853;12477932;10997877;16169070 57719 M0QYD2;Q9HCE9 AB046843;ABBA01051192;AC010463;AI860149;AMYH01009570;AMYH01009571;BC037307;CH471106;NM_020959 BAB13449;EAW84595;EAW84596;NP_066010;Q9HCE9 Hs.590990 1673784;1689245 RH93609;STS-W45157 KIAA1623;TMEM16H anoctamin-8;transmembrane protein 16H protein-coding ENSG00000074855 29329 17223 610216 VALIDATED 1312398 ANO6 anoctamin 6 This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 12 12 12 q12 44413462 44637876 + 43896170 44112399 + 45609770 45834187 + 6480464;7240710 19015192;15489334;14702039;12477932;7566098;15067359;21107324;20379614;21511967;22256604;21139048;21890473;21906983;19322201;22138694;21963094;23000965;23426967 196527 B3KX12;F8VX71;Q4KMQ2 AA332109;ABBA01031441;AC009248;AC009778;AC063924;AK095979;AK126409;AK302819;AK303996;AK310641;AL832340;AL833405;AMYH01004421;AMYH01004422;AMYH01004423;BC042383;BC063576;BC073891;BC098410;BC136445;NG_028220;NM_001025356;NM_001142678;NM_001142679;NM_001204803 AAH98410;AAI36446;BAG54324;BAG64017;BAG64913;CAD38638;NP_001020527;NP_001136150;NP_001136151;NP_001191732;Q4KMQ2 Hs.505339 1662702;1669180;1698346;1701350;1717841;1736190;1746765;1760085;1764465;1851414;5022200;5022578 D12S1135E;D12S1320;D1S1423;G64798;L18426;RH102714;RH104305;RH121832;SHGC-107762;SHGC-148070;SHGC-33633;STS-N36984 BDPLT7;MGC104751;SCTS;TMEM16F OTTHUMP00000241548;OTTHUMP00000241549;OTTHUMP00000241551;OTTHUMP00000241552;SCAN channel;anoctamin-6;small-conductance calcium-activated nonselective cation channel;transmembrane protein 16F APPROVED protein-coding ENSG00000177119 25240 18746 262890;608663 REVIEWED 1351029 ANO7 anoctamin 7 This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011] 2 2 2 q37.3 235798107 235834087 + 241776597 241813464 + 242127924 242164791 + 1303974;6480464 14981236 19015192;18676855;15761874;15375614;14702039;12477932;10613842;19495750 50636 H7C220;Q6IWH7 ABBA01006040;ABBA01006041;ABBA01006042;ABBA01006043;AC005237;AC104841;AC111201;AK057322;AMYH01011628;AMYH01011629;AY617079;AY617080;BC028162;BC038852;BC047903;CD672346;NG_029845;NM_001001666;NM_001001891 AAH28162;AAI56325;AAI57070;AAT40139;AAT40140;NP_001001666;NP_001001891;Q6IWH7 Hs.163909 1776448;1852973;2137759;2150981 G42012;G42022;RH68737;SHGC-35108 D-TMPP;DTMPP;IPCA-5;IPCA5;NGEP;PCANAP5;PCANAP5L;TMEM16G Dresden-transmembrane protein of the prostate;OTTHUMP00000200376;OTTHUMP00000200377;OTTHUMP00000200379;anoctamin-7;dresden transmembrane protein of the prostate;new gene expressed in prostate;prostate cancer associated protein 5;prostate cancer-associated gene 5;prostate cancer-associated protein 5;transmembrane protein 16G APPROVED protein-coding ENSG00000146205 31677 16090 605096 REVIEWED 1345920 ANO9 anoctamin 9 11 11 11 p15.5 476822 501215 - 407930 432011 - 417930 442011 - 6480464 19015192;16344560;15202010;14702039;12477932;9305847;20379614;22223854 338440 A1A5B4 ABBA01015182;ABBA01015183;ABBA01015184;AC138230;AI986229;AK026923;AK074088;AK096874;AK303642;AK316479;AL832289;AMYH01003285;AMYH01003286;BC047946;BC128557;BC144415;CH471158;CQ834410;CQ834594;DB140066;NM_001012302;U33271 A1A5B4;AAI28558;BAB84914;BAG53386;BAG64646;BAH14850;CAH05420;CAH05512;EAX02326;NP_001012302 Hs.501622 PIG5;TMEM16J;TP53I5 OTTHUMP00000229781;anoctamin-9;p53-induced gene 5 protein;transmembrane protein 16J;tumor protein p53 inducible protein 5;tumor protein p53-inducible protein 5 protein-coding ENSG00000185101 20679 18214 VALIDATED 6484654 ANP32BP3 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3 15 81409595 81410681 - 100652899 ABBA01060635;AC068870;AMYH01006852;NG_032808 pseudo 44089 INFERRED 2947095 ANP32BP1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 15 15 15 q24.2 52540558 52541291 - 73401167 73402105 - 75614117 75614850 - 646791 ABBA01060520;AC068338;AMYH01006814;NG_022900 1794340 PMC311040P1 pseudo 24267 INFERRED 2947013 ANP32BP2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 22 22 22 q13.31 28959635 28960342 + 43426385 43433559 + 45047715 45048422 + 100130708 ABBA01017860;AMYH01012838;NG_022880;Z98743 1711792;2152101 AL008644;G49421 pseudo 38552 INFERRED 1317675 ANP32C acidic (leucine-rich) nuclear phosphoprotein 32 family, member C Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 162450710 162451414 - 165337609 165338313 - 165118159 165118863 - 6480464 15895553;15146458;12524539;11678310;11360199;10471270;10400610;10086381;22174317;23403278 23520 O43423 ABBA01070279;AC079240;AC105250;AF008216;AMYH01014665;CH471056;NM_012403 AAD12746;AAI72312;AAY40978;EAX04832;NP_036535;O43423 Hs.661161 PP32R1 acidic leucine-rich nuclear phosphoprotein 32 family member C;phosphoprotein 32-related protein 1;pp32 related 1;tumorigenic protein pp32r1 APPROVED protein-coding 16675 06045 606877 REVIEWED 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 508 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 509 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 510 1343834 ANP32A-IT1 ANP32A intronic transcript 1 (non-protein coding) 15 15 15 q23 45985330 45988610 - 66885697 66886494 - 69096160 69099440 - 6480464 14702039;12477932;23106098 80035 ABBA01038773;AC087639;AK021784;AMYH01006740;BC132845;BC136847;CH471082;NR_026808 EAW77826 Hs.662150 5037552 D8S2279 C15orf28;FLJ11722;HsT18971;MGC168461;NCRNA00321 APPROVED miscrna 25672 VALIDATED 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B 9 9 9 q22.32 71259753 71292490 + 99785310 99818046 + 100745489 100778225 + 1580863;6480464 19130553;18039846;17081983;16094384;15895553;15489334;15164053;12522243;12477932;11729309;11018049;9473664;9285060;8125298;17643375;20015864;20538007;21209461;21832049;22863883;21800051;19471022;21139048;21693764;21890473;19322201;21415862;22705300;22174317 10541 Q5T6W8;Q92688 ABBA01042921;ABBA01042922;ABBA01042923;AK223454;AK313733;AL354726;AMYH01021559;AW296974;BC013003;BC019658;BP395780;CH471105;NM_006401;U70439;Y07569;Y07570;Y07969 AAB37579;AAH13003;AAH19658;BAD97174;BAG36474;CAA68855;CAA68856;CAA69265;EAW58864;EAW58865;NP_006392;Q92688 Hs.730654 1794340;2151570;2218994 ANP32B__4313;PMC311040P1;RH70770 APRIL;PHAPI2;SSP29 OTTHUMP00000021759;OTTHUMP00000021760;acidic leucine-rich nuclear phosphoprotein 32 family member B;acidic protein rich in leucines;putative HLA-DR-associated protein I-2;silver-stainable protein SSP29 protein-coding ENSG00000136938 16677 09803 VALIDATED 1351063 ANP32D acidic (leucine-rich) nuclear phosphoprotein 32 family, member D Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47662478 47662873 + 47152715 47153110 + 48866448 48866843 + 6480464 15895553;15489334;12477932;11678310;11360199;10471270;10400610;10086381;22219177 23519 O95626 ABBA01031481;AC089987;AMYH01004432;BC069122;CH471111;NM_012404;U71084 AAD13667;AAH69122;EAW57983;NP_036536;O95626 Hs.532658 1688342;2220348 RH80847;UniSTS:480453 PP32R2 OTTHUMP00000222520;acidic leucine-rich nuclear phosphoprotein 32 family member D;acidic nuclear phosphoprotein 32D;phosphoprotein 32-related protein 2;pp32 related 2;tumorigenic protein pp32r2 APPROVED protein-coding ENSG00000139223 16676 06046 606878 REVIEWED 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 15 15 q23 66859259 66900277 - 69070874 69113261 - 6480464 16169070;8192856;11729309;11555662;19121999;18439902;18410380;17962813;17557114;17266954;16713569;16344560;16341127;16009334;15895553;15642345;15489334;15247276;15136563;12807913;12565890;12524539;12522243;12477932;11909973;11830591;11360199;11163245;11018049;10400610;10086381;9353121;9144194;9110174;8970164;8679524;8619474;8530098;8125298;1655467;15308690;17643375;19565487;21209461;17142970;19913121;20558741;20628086;21152064;21325029;21642993;15100215;21317927;22863883;20683644;21139048;21693764;21890473;21906983;22174317 8125 H0YN26;H7BZ09;P39687 ABBA01038772;ABBA01038773;ABBA01038774;AC087639;AC090734;AF025684;AK127498;AK223280;AK312703;AMYH01006740;AW383928;AY007110;AY349171;BC000608;BC007200;BC064969;BC106719;BC125143;BT007436;CH471082;DA825897;NM_006305;U60823;U73477;X75090 AAB39706;AAB91548;AAC50570;AAH00608;AAH07200;AAI06720;AAI25144;AAP36104;AAQ79832;ABM84220;ABM87728;BAD97000;BAG35581;CAA52981;EAW77824;EAW77825;NP_006296;P39687 Hs.458747 1684419;1688130;2114455;2144213;2148022;2178054;2220348;5021894;5492885 D15S1181;D15S1277;D9S2077;RH46906;RH70903;SGC30863;UniSTS:480453;UniSTS:483159;ha2356 C15orf1;HPPCn;I1PP2A;LANP;MAPM;MGC119787;MGC150373;PHAP1;PHAPI;PP32 OTTHUMP00000205820;acidic leucine-rich nuclear phosphoprotein 32 family member A;acidic nuclear phosphoprotein pp32;cerebellar leucine rich acidic nuclear protein;hepatopoietin Cn;inhibitor-1 of protein phosphatase-2A;leucine-rich acidic nuclear protein;mapmodulin;potent heat-stable protein phosphatase 2A inhibitor I1PP2A;putative HLA-DR-associated protein I;putative human HLA class II associated protein I protein-coding ENSG00000140350 13233 09014 600832 VALIDATED 7206882 ANTXRLP1 anthrax toxin receptor-like pseudogene 1 10 q11.22 47624585 47644873 - 10737800 100996567 ABBA01033529;AL450388;BE775052;BX091290;BX280825;HY015468;HY092480;NR_103827;NR_103828;XM_003846381;XM_003846496;XM_003846540 XP_003846429;XP_003846544;XP_003846588 anthrax toxin receptor-like pseudogene 1 pseudo 45004 VALIDATED 1602061 ANTXRL anthrax toxin receptor-like 10 10 10 q11.22 42590783 42634004 - 47128240 47171452 + 47658233 47680921 + 6480464 16344560;15164054;14702039 195977 A6NF34;H3BPS2;H3BUA0;H3BUH6;H3BVE1 ABBA01033527;ABBA01033528;ABBA01033529;AK057316;AL450388;AL603965;AMYH01002426;DB133812;NM_001278688;XR_159066;XR_159158;XR_159198;XR_171854 A6NF34;NP_001265617 Hs.538515 1718759;2115405;5022322 D11S2560;G16010;RH123069 protein-coding 27277 PROVISIONAL 737099 ANPEP alanyl (membrane) aminopeptidase Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008] 15 15 q25-q26 88129130 88159076 - 90328126 90358072 - 1580863;1581742;1300048;1300284;6480464;6907045 15638741;1350662 15166647;15084671;14767532;14507917;12675232;12634402;12551991;12477932;12473585;12443882;12406907;11999577;11774469;11559807;11384645;11140838;10676659;10605003;9634079;9367365;9056417;8887485;8105105;8102610;7902291;7576235;6149934;2903074;2901990;2428842;1977688;1705556;1675638;10734069;2564851;15308636;19330903;18794057;18605079;18495788;18431797;18366676;18085638;18008160;17999179;17953966;17897790;17888402;17662271;17655775;17636545;17363739;17363734;17329256;16818694;16778789;16685268;16572171;16533817;16469741;16466852;16335952;16216591;15916720;15883031;15840518;15812828;15758076;15489334;15280478;15234325;22544935;18677709;19373777;19562339;19597336;19908113;20064928;20379614;19236378;20689807;21048031;17192395;21879266;22932899;22040956;21881118;20360068;22079983;21611838;23322201;21376765;22307972;22065384;23643324 290 H0YKT6;H0YLZ8;H0YM04;H0YMC1;P15144;Q59E93 AB209918;ABBA01053024;ABBA01053025;ABBA01053026;AC018988;AC079075;AF527789;AJ426050;AJ426067;AJ427985;AK298134;AK298242;AK298339;AK300946;AMYH01006918;BC058928;BQ879097;CH471101;M22324;M55522;NM_001150;X13276 AAA51719;AAA83399;AAH58928;AAQ09003;BAD93155;BAG60413;BAG60508;BAG60587;BAG62575;CAA31640;CAD19802;CAD19822;CAD20931;EAX02067;EAX02068;NP_001141;P15144 Hs.1239 1775628;1795360;2125204;2127680;2183227;2189373 ANPEP_1718;D15S1186;D15S1289;D2S2822;MARC_3220-3221:991936916:1;STS-F04048 APN;CD13;GP150;LAP1;P150;PEPN AP-M;AP-N;OTTHUMP00000194690;alanyl (membrane) aminopeptidase;alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150);alanyl aminopeptidase;aminopeptidase M;aminopeptidase N;hAPN;microsomal aminopeptidase;myeloid plasma membrane glycoprotein CD13 APPROVED protein-coding ENSG00000166825 500 01055 151530 REVIEWED 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 1 1 1 q21.2 123306449 123324235 - 148457479 148475082 - 150190717 150208504 - 1580863;6480464 16381901;15895553;15635413;15489336;15489334;14702039;12477932;12438741;11230166;11076863;8125298;16712791;11256614;16344560;17643375;8889548;16226712;22863883;22939629;21800051;18685789;21987572;19471022;21139048;21693764;21890473;21906983;21963094;23000965;23667531;19836239;22053931;22174317;22505724;22944692 81611 E9PI45;E9PLC4;E9PPH5;H0YCE2;Q5TB19;Q5TB25;Q9BTT0 ABBA01049326;ABBA01049327;AC242988;AK025624;AK092672;AK095228;AK223469;AK303333;AK303392;AL138795;AL832664;AL832674;AL833660;AMYH01001373;AY057381;BC003380;BM974388;CB123292;CH471121;DA379137;NM_001136478;NM_001136479;NM_030920 AAH03380;AAL25814;BAC03942;BAC04505;BAD97189;BAG64397;BAG64448;CAI22806;CAI22807;CAI22808;CAI22809;CAL37954;EAW53575;EAW53576;EAW53577;EAW53578;EAW53579;NP_001129950;NP_001129951;NP_112182;Q9BTT0 Hs.656466 1686218;1697178;2179397;2218222 AL009464;ANP32E__4315;RH102078;RH93887 LANP-L;LANPL;MGC5350 LANP-like protein;OTTHUMP00000014533;OTTHUMP00000014534;OTTHUMP00000037718;OTTHUMP00000231932;acidic leucine-rich nuclear phosphoprotein 32 family member E;leucine-rich acidic nuclear protein like protein-coding ENSG00000143401 16673 16493 609611 VALIDATED 1346318 ANTXR2 anthrax toxin receptor 2 This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 q21.21 81045749 81213277 - 80822771 80994477 - 1599125;1599126;1580863;6480464;7240710 14508707;17054395 15044490;16564009;19240061;19191226;16473908;16401723;16344560;15725249;15489334;15337774;15326297;15243628;15231748;15079089;14702039;12973667;12700348;12551953;12477932;11683410;9847074;20331448;17183731;19858192;20062062;20652271;21041274;21328543;20080640;22855243;21139048;21890473;21906983;22118297;22383261;21743469;22315420;20301698;23000965 118429 J3KPY9;P58335 AB209913;ABBA01063399;ABBA01063400;AC097711;AC109518;AC114773;AK023450;AK055636;AL110207;AL831848;AL832851;AMYH01014336;AMYH01014337;AMYH01014338;AMYH01014339;AMYH01014340;AMYH01014341;AMYH01014342;AMYH01014343;AY040326;AY233452;BC034001;BC042596;BC047345;BC107876;BC114374;BG235895;BM989747;BQ432519;CH471057;DA194583;DA989889;DB280658;NG_015987;NM_001145794;NM_058172 AAH34001;AAI07877;AAI14375;AAK77222;AAP04016;AAY40907;BAB70976;BAD93150;CAI46157;EAX05848;EAX05849;EAX05850;NP_001139266;NP_477520;P58335 Hs.162963 1642896;1652146;1662841;1670802;1770846;1775760;1851420;1852217;1857418;2149646;2153751;2163978;2167035;2173560;2176941;5092790;5111272 A006E32;AFM358tf9;D4S2435;D4S3243;D4S3348;G16717;G32331;G34526;NIB450;RH17514;SHGC-25128;SHGC-25175;SHGC-59243;SHGC-59835;SHGC-60119;SHGC-8625;WI-8895 CMG-2;CMG2;FLJ31074;HFS;ISH;JHF;MGC111533;MGC45856 OTTHUMP00000200884;OTTHUMP00000200885;OTTHUMP00000200886;OTTHUMP00000200887;anthrax toxin receptor 2;capillary morphogenesis gene 2 protein;capillary morphogenesis protein 2 APPROVED protein-coding ENSG00000163297 21732 07452 228600;608041 REVIEWED 1316801 ANXA13 annexin A13 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120881263 120937857 - 124762215 124818828 - 124693034 124749647 - 1580863;6480464 1530946;14718574;11961095;11581287;10871286;10737800;9503022;12477932;8125298;18029348;20701074;21139048;21184583;22219177 312 E5RIN3;P27216 ABBA01037883;AC011134;AC135166;AJ306450;AK057781;AK223374;AK290281;AMYH01019005;AW296908;AW854063;BC125158;BG823061;CH471060;CR541838;NM_001003954;NM_004306;Z11502 AAI25159;BAD97094;BAF82970;CAA77578;CAC34622;CAG46637;EAW92046;EAW92047;EAW92048;NP_001003954;NP_004297;P27216 Hs.181107 1703414;1750865;2114426;2131330 D8S1979;D8S2044;SHGC-104642;SHGC-68785 ANX13;ISA;MGC150460 OTTHUMP00000228108;OTTHUMP00000228109;annexin A13;annexin XIII;annexin, intestine-specific;annexin-13;intestine-specific annexin APPROVED protein-coding ENSG00000104537 536 03984 602573 REVIEWED 1316162 ANTXR1 anthrax toxin receptor 1 This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] 2 2 p13.1 69093993 69329806 + 69240276 69476459 + 6480464;7240710 14507921;16564009;17081983;16762926;16401723;16141341;15993844;15777794;15689409;15489334;14759258;14755251;14702039;12700348;12477932;11709713;11700562;11574549;11559528;10947988;10545197;8889548;8125298;21129411;19440709;19817382;19834535;20221438;17207965;20585457;21206026;21079738;22303962;22340594;23607659;20360068;21829615;22085271;21965755;21573768;21987572;21139048;21890473;21906983;21998595;19322201;22912819;21963094;23000965;23602711 84168 H0YC24;Q53FL1;Q96EC6;Q9H6X2 ABBA01075491;ABBA01075492;ABBA01075493;ABBA01075494;ABBA01075495;AC112230;AC114802;AF090095;AF279145;AF421380;AK001463;AK002160;AK025429;AK126783;AK223273;AK292113;AK309553;AMYH01010419;BC012074;BC012475;BU687536;CF126791;CH471053;CS430823;DC360415;DC361072;JX424838;JX424839;NG_012649;NM_018153;NM_032208;NM_053034 AAH12074;AAH12475;AAK52094;AAL26496;AAX88860;AAY24067;ACE87019;ACE87706;ADQ31687;AFQ94038;AFQ94039;BAA91707;BAB15128;BAD96993;BAF84802;CAL60148;EAW99855;EAW99856;EAW99857;EAW99858;NP_060623;NP_115584;NP_444262;Q9H6X2 Hs.165859 1644440;1645693;1660068;1661118;1673344;1673997;1683511;1716939;1720033;1734968;1753949;1755673;1846725;1848977;2164447;2185111 A004S16;D2S1716E;G29341;RH121849;RH123811;RH46382;RH48247;RH69248;RH69279;RH91771;SHGC-142518;SHGC-35027;SHGC-57423;SHGC-89350;WI-16379;WI-18140 ATR;FLJ10601;FLJ11298;FLJ21776;TEM8 2310008J16Rik;2810405N18Rik;OTTHUMP00000159975;OTTHUMP00000202140;OTTHUMP00000202171;anthrax toxin receptor 1;tumor endothelial marker 8 APPROVED protein-coding ENSG00000169604 21014 05913 602089;606410 REVIEWED 1318989 ANXA10 annexin A10 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q33 166343539 166438757 + 169250282 169345468 + 169013688 169108893 + 1580863;6480464 10458909;18029348;15489334;12477932;12000734;16712791;16341674;19582876;20664964;21175800;21979422;21906983;23029062 11199 Q9UJ72 ABBA01070325;ABBA01070326;AC068989;AC095051;AF196478;AJ238979;AMYH01014695;AMYH01014696;AY626137;BC007320;BM768053;CB163976;CH471056;NM_007193 AAF06672;AAH07320;AAT42216;ABW03531;CAB51917;EAX04810;NP_009124;Q9UJ72 Hs.188401 1719885;2107833 ANXA10_7997;RH123635 ANX14 OTTHUMP00000219959;annexin 14;annexin A10;annexin-10;annexin-14 APPROVED protein-coding ENSG00000109511 534 09724 608008 REVIEWED 1344486 ANXA2P3 annexin A2 pseudogene 3 10 10 10 q21.3 59854487 59855837 + 66255291 66256640 + 66585285 66586634 + 6480464 2174397;20339536 305 ABBA01019520;AC069020;AMYH01002781;M62895;NR_001446 Hs.591361 ANX2L3;ANX2P3;LIP2;LPC2C pseudo 540 PROVISIONAL 1346050 ANXA2P1 annexin A2 pseudogene 1 4 4 4 q31.3 151553153 151554495 - 154448071 154449413 - 154228621 154229963 - 6480464 2174397;1611909 303 ABBA01070135;AC013477;AMYH01014627;M62896;NR_001562 Hs.546235 1687860;2138525 D15S1185;RH66139 ANX2L1;ANX2P1;LPC2A pseudo 538 VALIDATED 1347050 ANXA2P2 annexin A2 pseudogene 2 9 9 9 p13 33556028 33557326 + 33614223 33615532 + 33624223 33625532 + 6480464 19615732;2969496;2174397;21145461;21555518;20000738;21906983 304 A6NMY6 ABBA01065043;AL139008;AMYH01019324;M62898;NG_001337;NR_003573 A6NMY6 Hs.534301 1687860;1745631;1792528 GDB:626485;PMC152906P1;RH66139 ANX2L2;ANX2P2;LPC2B pseudo ENSG00000231991 539 VALIDATED 730873 ANXA1 annexin A1 Annexin I belongs to a family of Ca(2+)-dependent phospholipid binding proteins which have a molecular weight of approximately 35,000 to 40,000 and are preferentially located on the cytosolic face of the plasma membrane. Annexin I protein has an apparent relative molecular mass of 40 kDa, with phospholipase A2 inhibitory activity. Since phospholipase A2 is required for the biosynthesis of the potent mediators of inflammation, prostaglandins and leukotrienes, annexin I may have potential anti-inflammatory activity. [provided by RefSeq, Jul 2008] 9 9 q21.13 74956601 74975127 + 75766781 75785307 + 734574;1580863;734965;2306888;2306896;2306907;2306939;2306898;2306914;2306928;2306942;2306950;2306952;2306954;2306889;2306948;2306920;2306905;2306910;2306891;1599668;2325722;2325723;6480464 2530899;12368905;11423489;17653046;15784654;9514092;16316942;10603033;10403283;9472682;9222544;9022675;8755646;17994624;9269316;10489933;16034371;11641252;17917587;16109804;19173988;17974280 22929401;22056994;2967291;10908733;10882119;16130169;2936963;19289595;19208747;19204938;19104500;19101730;19076685;18794547;18776816;18706208;18673418;18663355;18652761;18594025;18566442;18297688;18164291;17971499;17932043;17873281;17681950;17372018;17340616;17317721;17215481;17081983;17023068;17019707;17008549;16984915;16973129;16949910;16899607;16883066;16741918;16675446;16627980;16530434;16460738;16324197;16100712;16014420;15944914;15883023;15592455;15581623;15526283;15489334;15485879;15476183;15447985;15187149;15168732;15157173;15064349;14733945;14633604;14506282;12859969;12679902;12645011;12477932;12236584;12165536;11759108;11574426;11468004;10512675;9915835;9459484;8955167;8587144;8557678;8453382;8425544;3303336;2971450;2969496;2532504;2457390;1832554;1670773;1602151;17353931;22586326;22610094;22613333;22773844;20549082;20665809;21412170;18577758;20359522;20562859;20679535;1374236;17626739;18029348;18396684;19351789;19428102;19596235;19615732;19767728;19850308;20007579;20025479;20061392;20237496;20308542;2138016;21254404;20962261;20163912;20353277;20558817;20713499;20872967;19394292;20821804;20970165;19913121;20628086;20398702;16226712;20930115;21195640;20924191;21365324;21122411;21127395;22777765;22939629;22909323;23106098;22723974;21420379;21398608;15047060;21800051;21383699;22736399;20602103;17676665;22505724;15161933;21836070;21900206;21139048;21890473;21906983;22116825;23413360;23824909;12689596;22164217;21132403;22640735;21903368;22378018;21145461;21319273;22701020;23029153;18850631;23341933;23154128;19738201;21963094;22304920;22623428;22792315;23000965;23241962;23277546 301 P04083;Q5T3N0;Q5T3N1;Q5TZZ9 AB451274;AB451401;ABBA01033867;AK074480;AK296808;AL359997;AMYH01021409;BC001275;BC018683;BC034157;BC035993;BT019896;BT019916;BT019917;CH471089;CR407684;GU997628;NM_000700;U25414;X05908 AAH01275;AAH34157;AAH35993;AAV38699;AAV38719;AAV38720;ABM82099;ABM85264;ADZ76495;BAG59381;BAG70088;BAG70215;CAA29338;CAG28612;EAW62545;EAW62546;EAW62547;EAW62548;EAW62549;EAW62550;NP_000691;P04083 Hs.494173 1645301;1649029;1652664;1667382;2123198;2177746;5017961;5093836 A009X30;ANXA1;G32952;RH68409;SHGC-12349;SHGC-13051;STS-H67867;STS-U25414 ANX1;LPC1 OTTHUMP00000021474;OTTHUMP00000021475;annexin A1;annexin I (lipocortin I);annexin-1;calpactin II;calpactin-2;chromobindin-9;lipocortin I;p35;phospholipase A2 inhibitory protein APPROVED protein-coding ENSG00000135046 533 01060 151690 REVIEWED 1320510 ANXA11 annexin A11 This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, May 2013] 10 10 q23 81904860 81955308 - 81914880 81965328 - 1580863;6480464 12577318;7508441;19345290;19165924;17081065;16189514;15489334;15197175;14702039;12805373;12601007;12477932;12445460;11883939;11013079;10037139;9503022;9268363;8639854;8125298;1602151;1299619;16169070;21145461;16385451;18256029;19484149;19724273;9188810;20093723;20093729;20805159;22939629;22053931;20458337;21562576;20691033;22586326;21139048;21890473;21906983;16344560;23579219;23151485;22936702;23144326;23000965 311 B4DVE7;H0Y6E1;P50995;Q5T0G7;Q5T0G8;Q5T0G9 AB209770;ABBA01003807;ABBA01003808;ABBA01003809;AJ278463;AJ278464;AJ278465;AK000567;AK056107;AK126287;AK222918;AK298362;AK300509;AK301047;AL356095;AL357617;AL513174;AMYH01002882;BC007564;BT019934;CH471142;CR450323;DA558997;L19605;NM_001157;NM_001278407;NM_001278408;NM_001278409;NM_145868;NM_145869 AAA19734;AAH07564;AAV38737;ABM84429;ABM87480;BAD93007;BAD96638;BAG51628;BAG54303;BAG60604;BAG62659;BAH13296;CAB94995;CAB94996;CAB94997;CAG29319;EAW80399;EAW80400;EAW80401;EAW80402;EAW80403;EAW80404;EAW80405;NP_001148;NP_001265336;NP_001265337;NP_001265338;NP_665875;NP_665876;P50995 Hs.530291 1797284;2128279;2136356;5122071;5491940 ANXA11;ANXA11_1921;D10S2353;STS-N35254;WI-17317 ANX11;CAP50 56 kDa autoantigen;CAP-50;OTTHUMP00000019955;OTTHUMP00000019956;OTTHUMP00000019957;OTTHUMP00000019958;annexin A11;annexin XI;annexin-11;autoantigen, 56-kD;calcyclin-associated annexin 50 APPROVED protein-coding ENSG00000122359 535 03983 602572 REVIEWED 735865 ANXA3 annexin A3 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008] 4 4 q21.21 79691766 79750629 + 79472742 79531605 + 1580863;6480464 16130169;16236264;16169070;15489334;12665801;12477932;10662590;10391209;8889548;8639653;8626524;8276419;2975506;2968983;2159184;2138632;1830024;17207965;17205602;20103635;2138016;7526843;9497492;9550422;20167856;21055154;21137070;22939629;18029348;22189913;21906983;22446963;16009940;21132403;22558069;21435174;21890473;22304920;23000965;23011854 306 D6RA82;D6RAZ8;D6RCA8;D6RFG5;D6RFJ9;P12429 AB209868;ABBA01063381;ABBA01063382;ABBA01063383;AC104808;AK313945;AMYH01014330;BC000871;BU674495;BX336217;CH471057;CR407648;L20591;M20560;M63310;NM_005139 AAA16713;AAA52284;AAA59496;AAH00871;ADQ32626;BAD93105;BAG36663;CAG28576;EAX05822;EAX05823;EAX05824;NP_005130;P12429 Hs.480042 1658258;1683529;1687095;1690994;1743023;1771450;2114544;2116409;2128299;2171653 D4S3345;D4S451;GDB:249615;RH10990;SHGC-24222;SHGC-59531;SHGC-59532;SHGC-67306;SHGC-67856;SHGC4-147 ANX3 35-alpha calcimedin;Annexin III (lipocortin III);OTTHUMP00000160701;OTTHUMP00000219237;OTTHUMP00000219238;PAP-III;annexin A3;annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha);annexin-3;calcimedin 35-alpha;inositol 1,2-cyclic phosphate 2-phosphohydrolase;lipocortin III;placental anticoagulant protein III APPROVED protein-coding ENSG00000138772 541 00111 106490 REVIEWED 1317074 ANXA8 annexin A8 This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. 10 q11.2 47216926 47233047 + 1580863;2325733;2325735;6480464 19376120;18223320 16638567;16344560;16203777;15928709;12477932;11917092;9373149;8045287;8018923;2530088;1364010;1313714 244 B4DKI1;B4DTC9;P13928;Q53FY2;Q5VT78;Q5VT79;Q5VTM3;Q96H89 AK223149;AL603965;BC008813;CR603162;CR608186;DA698972;NM_001630;X16662 AAH08813;ABM84356;BAD96869;CAA34650;CAH70574;CAH70575;NP_001621;P13928;Q53FY2;Q5VT78;Q5VT79;Q96H89 Hs.651104 5096416 SHGC-12720 ANX8;FLJ32754;VAC beta protein-coding 546 03866 602396 1605501 ANXA2R annexin A2 receptor 5 5 5 p12 42928300 42929565 - 43074939 43076098 - 43039182 43040447 - 18636554;16895901;15146197;12477932;10359570;22223826;19322201;23640736 389289 Q3ZCQ2 ABBA01024244;AC025171;AMYH01015053;AY032883;BC067873;BQ670161;CH471119;CN261477;NM_001014279 AAH67873;AAK52335;EAW56037;EAW56038;NP_001014301;Q3ZCQ2 Hs.529385 1668102 RH41910 AX2R;AXIIR;C5orf39 annexin II receptor;annexin-2 receptor APPROVED protein-coding 33463 18393 611296 VALIDATED 1350124 ANXA8L2 annexin A8-like 2 414306 E7EVD9;F5GX16 5096416 SHGC-12720 23335 735938 ANXA4 annexin A4 Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. [provided by RefSeq, Jul 2008] 2 2 p13 69862156 69907095 + 69969127 70053596 + 1580863;6480464 22056994;2970257;16130169;18029348;18164291;17363042;16954445;16687573;16021519;15952740;15489334;15145526;12477932;12324456;10978337;10949146;10883672;10708762;9720986;9084877;8889548;8882729;8798684;8631806;8002935;2975506;2974032;2530088;2254922;2148260;2143074;1346776;19598262;19955935;20379614;2138016;20237821;19913121;20628086;20648654;22883517;22939629;22970268;20602103;21800051;20000738;21348943;17676665;22847161;18781797;20360068;21139048;21890473;21900206;21906983;19471022;21044950;22053931;23000965;23362303;23290009 307 B4DDF9;P09525;Q6LES2;Q6P452 AB209457;ABBA01075512;ABBA01075513;ABBA01075514;AC019206;AC092431;AC112787;AK058017;AK293177;AK293396;AK293406;AK303960;AK315511;AMYH01010422;AMYH01010423;AY453398;BC000182;BC011659;BC063672;BE886769;BX641114;CB305705;CH471053;CR407681;D78152;M19383;M82809;NM_001153 AAA51740;AAC41689;AAH00182;AAH11659;AAH63672;AAS47515;AAY14864;ABM83780;ABM87100;BAA11227;BAD92694;BAG37892;BAG56720;BAG56905;BAG56913;BAG64884;CAE46052;CAG28609;EAW99844;NP_001144;P09525 Hs.422986 1710230;1768411;1797286;2120994;2144581;2170185;2186319;5020274;5024761 ANXA4_2332;D2S2560;D2S2862;L18441;RH1484;RH36905;RH65876;SHGC-15259;SHGC-83751 ANX4;DKFZp686H02120;MGC75105;PIG28;ZAP36 35-beta calcimedin;OTTHUMP00000160052;OTTHUMP00000202207;P32.5;PAP-II;PP4-X;annexin A4;annexin IV (placental anticoagulant protein II);annexin-4;carbohydrate-binding protein p33/p41;chromobindin-4;endonexin I;lipocortin IV;placental anticoagulant protein II;proliferation-inducing gene 28;proliferation-inducing protein 28;protein II;zap 36/annexin iv APPROVED protein-coding ENSG00000196975 542 00112 106491 REVIEWED 736099 ANXA2 annexin A2 This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q22.2 58426642 58477477 - 60639350 60690185 - 1578382;1580863;1300285;2306888;2325731;2325728;2317307;6480464 15784727;14702107;11423489;16450333;20493868;19260470 16289162;16230353;16177123;16100712;15952740;15951569;15944914;15940368;15881658;15849182;15788416;15635413;15574370;15567461;15554585;15526283;15489334;15471954;15388255;15302870;15257287;15226372;15211578;15070701;15064349;15051937;15009185;14995994;14991775;14702039;14699089;14672933;14613585;14522961;14506282;14504107;13679511;12730231;12699894;12660155;12629510;12628297;12477932;12468550;12045186;11978811;11790298;11781322;11295233;11108961;11106497;10809787;10777578;10512675;10213612;10077593;9515022;8955167;8898866;8834809;8636985;8449982;8125298;8117306;8110754;7851890;7821789;7518469;7510700;2969496;2946940;2456953;2174397;2148288;1999197;1825830;1602151;1531641;16940516;3013422;7961821;19513064;19325895;19289089;19176991;19020748;19016789;18990701;18924133;18799458;18712570;18636554;18565825;18502476;18494762;18434302;18389276;18384219;18332131;18289715;18262347;18211896;18174463;18164291;18084608;18008140;17999956;17971878;17824845;17709546;17581860;17513451;17441315;17244347;17239928;17081983;17081065;17065584;16989986;16984913;16963080;16882661;16797773;16709165;16643892;16565220;16524621;16501079;16493010;16331566;21146216;16526095;9886297;12171929;17353931;22587461;20826156;20225235;17620599;22266860;22822523;22493182;17254974;17626749;19022301;19339807;19380152;19556289;19585213;19605586;19642359;19656851;19724273;19764771;19823170;19885616;19951950;20015551;20018898;20047591;20079732;20121258;20335258;20379614;20540360;2138016;17711622;15166316;20947498;20970165;20093721;20093722;20847146;19913121;20628086;20702651;20407807;21033036;11866539;16226712;21193750;21237296;19954599;21122411;22679123;22830395;22957061;22939813;18160415;23106098;23148505;23383273;9184228;21330046;19549357;22879587;21182205;22681645;22863883;18850631;23402259;23522334;9315650;23558678;22645245;20000738;20561442;21572519;15161933;16051665;21645192;8692841;21900167;15047060;21976520;19380743;19912576;21841072;22004035;22859294;10409742;19596686;20849852;21886777;21908427;21849434;22141411;20229030;21603851;22044461;21491466;22223826;22230505;22452352;14741744;12938929;21139048;21817168;21890473;21906983;21372205;21918681;21987572;23226323;21110914;22913982;23741361;23824909;21809360;22235123;16009940;17361185;21044950;21132403;19471022;21928315;22452176;22301157;18172692;21145461;21319273;22705595;23188673;22917188;23275167;19738201;19805454;20706999;21150319;21565611;21963094;22053931;22623428;22792315;22936677;23000965;23091277;23091278;23334362;23494179;21832049;22848640;22939629;22940583 302 H0YKL9;H0YKN4;H0YKS4;H0YKV8;H0YKX9;H0YKZ7;H0YL33;H0YLE2;H0YLV6;H0YM50;H0YMD0;H0YMD9;H0YMM1;H0YMT9;H0YMU9;H0YMW4;H0YN28;H0YN42;H0YN52;H0YNA0;H0YNB8;H0YNP5;P07355 AA661718;ABBA01038951;ABBA01038952;AC087385;AK092006;AK124427;AK222542;AK297923;AK309356;AMYH01006690;AMYH01006691;AW087150;BC001388;BC001748;BC009564;BC013843;BC015834;BC016774;BC021114;BC023990;BC052558;BC052567;BC066955;BC068065;BC093056;BT007432;BX640598;CH471082;CQ878716;D00017;D28364;NM_001002857;NM_001002858;NM_001136015;NM_004039 AAH01388;AAH09564;AAH15834;AAH16774;AAH21114;AAH23990;AAH52558;AAH52567;AAH66955;AAH68065;AAH93056;AAP36100;ABM81934;ABM85113;BAA00013;BAA05730;BAG52463;BAG60240;CAE45704;CAH59520;EAW77582;EAW77583;EAW77584;EAW77585;EAW77586;EAW77587;NP_001002857;NP_001002858;NP_001129487;NP_004030;P07355 Hs.511605 1644802;1687860;1688955;1745631;1792528;2138525;5016781 D15S1185;D15S1292;GDB:626485;PMC152906P1;RH15753;RH66139;SHGC-67307 ANX2;ANX2L4;CAL1H;LIP2;LPC2;LPC2D;P36;PAP-IV OTTHUMP00000163650;annexin A2;annexin II;annexin-2;calpactin I heavy chain;calpactin I heavy polypeptide;calpactin-1 heavy chain;chromobindin 8;chromobindin-8;lipocortin II;placental anticoagulant protein IV;protein I APPROVED protein-coding ENSG00000182718 537 01061 151740 REVIEWED 734268 ANXA5 annexin A5 The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008] 4 4 q27 122808598 122837626 - 122589152 122618147 - 1578384;1580863;2317541;2317543;2317538;2317542;6480464;7241853;7241858;7242028;7242029;7242031;7242030 16025836;16501019;8814351;19488907;12200370;11271515;8056721;21918686;21124692;17999093;20648654 2967495;8667030;16130169;11256614;19345290;19238444;19234085;19056482;18977990;18951241;18773956;18703851;18462735;18384219;18164291;17893975;17869070;17766279;17681182;17408414;17363042;17339269;17137622;17053060;16916647;16785226;16704958;16670301;16579937;16449315;16389029;16381901;15952740;15692104;15634283;15526283;15489336;15489334;15381697;15286043;15280367;15242878;15242332;15173196;14764526;14710359;12871462;12798778;12769841;12732504;12477932;12102261;11773704;11076863;10903505;10329451;9584197;9435213;9398511;8834809;8495746;8045287;8034319;7958998;7519374;2974032;2968983;2967291;2964863;2963810;2960376;2957692;2532007;2455636;2148156;2147412;1683830;1602151;1397263;1311770;1310621;16169070;20705065;22266906;17540176;19372761;19461527;19578796;19639233;19652881;19799864;19810772;19846818;20174767;2138016;20542876;20532885;20643388;20805002;21067452;21078669;21832049;22463102;22939629;23383273;23284897;21185149;21685187;22879587;19596686;20360068;21426764;20000738;21289001;17676665;19639585;21563266;22053931;22728018;22807456;21741441;22174207;19471022;21450308;22452176;22341596;22635237;12689596;18781797;21139048;21693764;21890473;21906983;16009940;21044950;21298269;22425772;22536838;22804929;21319273;22624674;21963094;21988832;22304920;23000965;23724626;19620076 308 D6RBE9;D6RBL5;D6RCN3;E9PHT9;P08758 ABBA01044728;ABBA01044729;AC096730;AK297909;AK312644;AMYH01014492;AY577779;BC001429;BC004993;BC012804;BC012822;BC018671;BC032093;CH471056;CR536522;CR541842;D00172;J03745;M18366;M19384;M21731;NG_032042;NM_001154;U01681;U01691;U05770;X12454 AAA35570;AAA36166;AAA52386;AAB40047;AAB59545;AAB60648;AAH01429;AAH04993;AAH12804;AAH12822;AAH18671;AAY40954;ABM82870;ABW03461;ABW03769;BAA00122;BAG35528;BAG60228;CAA30985;CAG38759;CAG46640;CAL38022;EAX05256;EAX05257;EAX05258;EAX05259;EAX05260;NP_001145;P08758 Hs.480653 1657939;1684010;1725703;1739051;1770139;1775143;2131277;2170965;2217012;5124144;7187404 ANXA5_3263;D4S2700;D4S3274;G62114;SHGC-50259;SHGC-59736;SHGC-67991;SHGC-8558;SHGC4-1011;WI-18730 ANX5;ENX2;PP4;RPRGL3 CBP-I;OTTHUMP00000164026;OTTHUMP00000219982;OTTHUMP00000219983;OTTHUMP00000219985;PAP-I;VAC-alpha;anchorin CII;annexin 5;annexin A5;annexin V;annexin-5;calphobindin I;endonexin II;lipocortin V;placental anticoagulant protein 4;placental anticoagulant protein I;thromboplastin inhibitor;vascular anticoagulant-alpha APPROVED protein-coding ENSG00000164111 543 00568 131230;614391 REVIEWED 6481095 AOAH-IT1 AOAH intronic transcript 1 (non-protein coding) 7 36637440 36639726 - 100874264 AACC02000036;ABBA01056908;AC087069;AMYH01017181;CH236951;NR_046764 Hs.690994 miscrna 41307 PREDICTED 733718 ANXA6 annexin A6 Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] 5 5 q33.1 150460461 150517560 - 150480267 150537443 - 1580863;6480464 15576473;19345290;18786929;18245088;18164291;17824845;17822395;17081065;16674946;16153422;15489334;15355961;15242332;15226301;14702039;12885247;12534274;12477932;12140262;11696438;10618640;10571081;9883272;9515022;9195978;8834809;8798684;8709144;8146179;7698768;3258820;2963335;2731935;2528541;2139657;1831222;1420329;16169070;14530271;7753047;22586326;9480874;20888375;21185831;21145461;19322030;19386597;19900398;2138016;20363475;21216236;21119665;17893145;22863883;22797061;15047060;16944923;20000738;21672540;22053931;22505724;18781797;21990038;21139048;21890473;21906983;22399299;20706999;21963094;23000965;23341998;23349634 309 A6NN80;E5RFF0;E5RI05;E5RIU8;E5RJF5;E5RJR0;E5RK63;E5RK69;E7EMC6;H0YC77;P08133 ABBA01026265;ABBA01026266;ABBA01026267;ABBA01026268;AC008641;AI566871;AK126836;AK130077;AK290672;AK298582;AK303078;AMYH01015710;AMYH01015711;BC017046;BM904172;BQ924484;CH471062;D00510;DC411634;J03578;NM_001155;NM_001193544;X77673;Y00097 AAA35656;AAH17046;ABM82536;ABW03390;BAA00400;BAC85290;BAC86715;BAF83361;BAH12818;BAH13893;CAA68286;EAW61684;EAW61685;EAW61686;EAW61687;NP_001146;NP_001180473;P08133 Hs.412117 1744153;1757987;1758117;1758529;1772377;1781006;2136362;2145830;2147016;2217014;5491794 ANXA6;ANXA6_2739;GDB:392715;RH44551;RH47466;SGC34325;SHGC-147039;SHGC-147435;SHGC-148636;STS-AA031316;bac5670S ANX6;CBP68 67 kDa calelectrin;CPB-II;OTTHUMP00000226119;OTTHUMP00000226120;OTTHUMP00000226122;annexin A6;annexin VI (p68);annexin-6;calcium-binding protein p68;calelectrin;calphobindin II;calphobindin-II;chromobindin-20;lipocortin VI;p68;p70 APPROVED protein-coding ENSG00000197043 544 00231 114070 REVIEWED 731625 ANXA7 annexin A7 Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008] 10 10 q22.2 74805210 74843809 - 75135189 75173841 - 734966;1580863;2292654;2292656;2292655;6480464 10570150;17708571;11287641;15073110 12445460;19602687;18449914;17112522;17018618;15489334;14519201;12477932;11994295;11839755;11338180;11278415;10672515;9268363;8125298;8053909;7738119;7515686;2542947;1825209;1533123;21145461;20936779;16385451;18256029;20190808;20858460;20093729;22939629;21432772;21531385;21586441;21800051;22053931;20691033;21139048;21900206;21906983;19322201 310 B2R657;B4DT77;B9ZVT2;P20073 AB062429;ABBA01020326;ABBA01020327;AK222552;AK295319;AK300086;AK301681;AK307772;AK309141;AK312447;AK313024;AL353731;AL512656;AMYH01002828;AW518993;BC001322;BC002632;BT007187;CH471083;CR407686;DC367313;J04543;M64272;NM_001156;NM_004034 AAA36616;AAH02632;AAP35851;BAB93492;BAD96272;BAG35354;BAG35859;BAG58296;BAG61889;BAG63154;CAG28614;EAW54493;EAW54494;NP_001147;NP_004025;P20073 Hs.631827 1654451;1797288;2116359;2117833;2175712;5120676;5120678;5120680 ANXA7_2109;GDB:369091;GDB:369094;GDB:369097;RH17592;RH47719;SHGC-12519;WI-11929 ANX7;SNX;SYNEXIN OTTHUMP00000019812;OTTHUMP00000019813;annexin A7;annexin VII;annexin-7 APPROVED protein-coding ENSG00000138279 545 01720 186360 REVIEWED 7247040 AOC4P amine oxidase, copper containing 4, pseudogene 14585497;17385066;20013028;9767118 90586 ABBA01006404;AC016889;AF047485;AF047486;AMYH01008398;NR_002773 Hs.367781 1658515 WI-17817 AOC4 pseudo ENSG00000260105 48869 PROVISIONAL 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 551 1354199 ANXA8L1 annexin A8-like 1 10 10 q11.22 46577995 46594046 - 47157989 47174040 - 20360068;12477932;8125298 728113 B4DKI1;F5H7X5;Q5T2P7;Q5T2P8 AC244230;AK223149;AK300191;AK307182;AK313626;AL391137;AMYH01002426;BC008813;DC381265;NM_001098845;NM_001278923;NM_001278924;X16662 AAH08813;BAD96869;BAG36386;BAG61964;CAA34650;CAI12203;CAI12204;NP_001092315;NP_001265852;NP_001265853;Q5T2P8 Hs.705389 5096416 SHGC-12720 ANXA8;VAC-beta;bA301J7.3 OTTHUMP00000019521;OTTHUMP00000019522;VAC-beta;annexin A8-like protein 1;annexin VIII;annexin-8;vascular anticoagulant-beta protein-coding ENSG00000150165 23334 VALIDATED 1344698 AOC2 amine oxidase, copper containing 2 (retina-specific) Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 17 17 17 q21 37652664 37658779 + 38250135 38256250 + 40996609 41002724 + 1580863;6480464;6907045 9119395;15146197;14585497;9722954;19588076;12477932 314 O75106 AB012943;ABBA01006405;AC016889;AF081363;AMYH01008398;BC142641;CA425343;CH471152;CN355968;D88213;DQ060035;NM_001158;NM_009590 AAD39345;AAI42642;AAY43129;BAA19001;BAA32589;BAA32590;EAW60895;EAW60896;NP_001149;NP_033720;O75106 Hs.143102 1648289;1657648;1769215;1770053 RH16239;RH47258;RH68315;STS-U11292 DAO2;RAO SSAO;retina-specific copper amine oxidase;semicarbazide-sensitive amine oxidase APPROVED protein-coding ENSG00000131480 549 11889 602268 REVIEWED 1603491 AOX2P aldehyde oxidase 2 pseudogene 2 2 2 q33.1 195315326 195413857 + 201343640 201367191 + 201560446 201658946 + 6480464 11562361;8889549;20210993;16344560;20800603;23263164;22760553 344454 ABBA01062519;AC007163;AMYH01011400;AY245868;DB346520;JX431285;JX431286;NR_001557 Hs.148269 1696052;1780076;1784174;1847244 G31882;SHGC-154326;SHGC-155145;SHGC-83201 AOH2;AOX2 pseudo 18450 PROVISIONAL 1352405 ANXA9 annexin A9 The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008] 1 1 1 q21 124070194 124083809 + 149221123 149234738 + 150954499 150968114 + 1580863;6480464 10899159;12832069;16710414;15489334;15302935;12477932;9931420;9742942;9165068;16169070;20383146;21832049;19953087;21926416;21983785;22841549 8416 O76027 ABBA01049364;ABBA01049365;AF230929;AJ009985;AK314926;AL590133;AMYH01001386;BC005830;BJ993162;CH471121;CR536481;NM_003568 AAG16780;AAH05830;ABM83945;ABM87263;CAA08933;CAG38720;EAW53496;NP_003559;O76027 Hs.3346 1768131;2217016 ANXA9_2947;SHGC-107 ANX31 OTTHUMP00000033027;annexin 31;annexin A9;annexin XXXI;annexin-31;annexin-9;pemphaxin APPROVED protein-coding ENSG00000143412 547 603319 VALIDATED 1347850 AP1B1P1 adaptor-related protein complex 1, beta 1 subunit pseudogene 1 22 22 22 q12.3 16328763 16328953 + 30858204 30858594 + 32517964 32529456 + 10591208 23782 ABBA01055364;AMYH01012725;BM554504;NR_040114;Z83839 Hs.581098 1802840;1824170;2011508;2011510;2011512;2011514;2011516;2011518;2011520;2011522;2011524;2011526;2011528;2011534;2098330;2098332 ECD02308;ECD13181;REN76676;REN76677;REN76678;REN76679;REN76680;REN76681;REN76682;REN76683;REN76684;REN76685;REN76686;REN76689;stSG602548;stSG602549 ADTB1L1;dJ127L4.2 APPROVED pseudo ENSG00000234479 297 VALIDATED 1350660 AP1B1P2 adaptor-related protein complex 1, beta 1 subunit pseudogene 2 22 22 22 q12.3 16330473 16330574 + 30859914 30860215 + 32530015 32530116 + 10591208 23781 ABBA01055364;AMYH01012725;NG_002624;Z83839 1831154;2011522;2011524;2011526;2011528;2011530;2011532;2011534;2011536;2011538;2011540;2011542;2011544;2011546;2098332;2098334 ECD16713;REN76683;REN76684;REN76685;REN76686;REN76687;REN76688;REN76689;REN76690;REN76691;REN76692;REN76693;REN76694;REN76695;stSG602549;stSG602550 ADTB1L2;dJ127L4.3 APPROVED pseudo 298 INFERRED 1352932 AOAH acyloxyacyl hydrolase (neutrophil) This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010] 7 7 p14-p12 36519134 36730550 - 36552549 36764154 - 1580863;6480464 1883828;16815140;15489334;12477932;8613354;8125298;22723975;8089145;8088847;1987068;15342556;16344560;20237496;20379614;20205591;23251661 313 B7Z598;C9J8T1;C9JJA7;F8WCP9;P28039 AACC02000036;ABBA01056907;ABBA01056908;ABBA01056909;ABBA01056910;AC083876;AC087069;AK223476;AK297016;AK298644;AK308215;AMYH01017181;BC025698;BP310596;CH236951;CH471073;CR748867;DA469735;DC314135;M62840;NM_001177506;NM_001177507;NM_001637 AAA35506;AAH25698;ABM81866;ABM85026;BAD97196;BAH12476;BAH12834;EAL23977;EAW94073;NP_001170977;NP_001170978;NP_001628;P28039 Hs.488007 1645411;1668566;1754535;1755325;1779914;1779980;1786198;1790567;2126054;2145683;2159245;2162966;2175072 AOAH;D7S2717;D7S781;HSC202_(7Gr362mb);RH17719;SHGC-106107;SHGC-132818;SHGC-142211;SHGC-154159;SHGC-154227;SHGC-33300;SHGC-52591;WI-9088 OTTHUMP00000128208;OTTHUMP00000206984;acyloxyacyl hydrolase APPROVED protein-coding ENSG00000136250 548 00027 102593 REVIEWED 732341 AOC1 amine oxidase, copper containing 1 This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 7 7 q36.1 150180506 150189312 + 150549573 150558379 + 1298636;1580863;1300048;2315591;2312809;6480464;6907045 8182053;16895983;1632778 8144586;1356107;17985251;17700358;17651147;16489678;15928835;15489334;14702039;12755416;12690205;12477932;12419186;11855874;11603849;10660106;8829374;8645981;8595053;8396495;8195119;7806511;2227949;2217167;1898707;12913069;19670078;19701972;19764817;20062061;20124708;23099198;20602615;21040557;21225906;21488903;12072962;16846222;9399025;22433290;7626074 26 C9J0G8;C9J2J4;C9J690;P19801 AACC02000108;ABBA01035175;AC006343;AK092514;AK296638;AK307278;AK314806;AMYH01018140;AY948960;BC014093;BX648159;CH471173;M55602;NM_001091;NM_001272072;U11862;U11863;X78212 AAA58358;AAB60381;AAC50270;AAH14093;AAX81409;ADZ15523;BAG52564;BAG59239;CAA55046;EAL24490;EAW54081;EAW54082;EAW54083;EAW54084;EAW54085;EAW54086;EAW54087;NP_001082;NP_001259001;P19801 Hs.647097;Hs.733889 ABP;AOC1;DAO;DAO1;KAO OTTHUMP00000212758;OTTHUMP00000212759;OTTHUMP00000212762;OTTHUMP00000212763;OTTHUMP00000212764;amiloride binding protein 1;amiloride-binding protein-1;amiloride-sensitive amine oxidase;amiloride-sensitive amine oxidase [copper-containing];diamine oxidase;histaminase;kidney amine oxidase APPROVED protein-coding ENSG00000002726 80 00088 104610 REVIEWED 733539 AOX1 aldehyde oxidase 1 Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] 2 2 q33 201158976 201244463 + 201450731 201536218 + 734575;1580863;1300048;6480464;6907045 7570184 8248161;17992631;12477932;11302742;8889548;8043023;12054535;19500084;19741035;19898482;20379614;20800603;16712791;22522748;21988832;23263164;18029348;22031625;22279051;22495427 316 C9J244;H7BXF7;H7C3Q1;Q06278 AB046692;ABBA01062516;ABBA01062517;AC007163;AC080164;AF010260;AF017060;AK297930;AK301052;AK307738;AL079797;AMYH01011399;BC117179;BC117181;BM681054;CB153864;CH471063;FB789700;FB794625;FB798872;FB811643;FB848178;FB866440;FB885306;FB890693;FB896453;GN364811;HB659759;HB664684;HB668931;HB681702;HB718237;HB736499;HB755365;HB760752;HB766512;L11005;NM_001159 AAA96650;AAB83966;AAB83968;AAI17180;AAI17182;AAX93285;AAY24265;BAB40305;BAG60247;BAG62663;CAW36666;CAW39000;CAW41181;CAW47197;CAW63617;CAW71847;CAW80339;CAW82831;CAW86206;CAY77140;CBC02619;CBC04872;CBC06832;CBC12951;CBC45781;CBC62201;CBC79136;CBC84084;CBC89038;EAW70208;EAW70209;NP_001150;Q06278 Hs.406238 1772530;1772557;2160368 G31889;RH11649;WI-9291 AO;AOH1 OTTHUMP00000205961;aldehyde oxidase APPROVED protein-coding ENSG00000138356 553 07537 602841 REVIEWED 1347849 AOC3 amine oxidase, copper containing 3 This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 17 17 q21 38256727 38263667 + 41003201 41010141 + 1580863;2313821;2313823;2313824;2313825;2313919;2313912;2313915;2313925;2313928;2313820;2313822;2313908;2313827;2313914;2313916;2313819;2313826;2313828;6480464;6907045 16339390;12663473;12606817;12466139;17393059;18312104;17993604;16947396;16397885;19336232;14656718;18436961;11052858;18032635;17977742;19635478;11522499;2218072 22150439;22354146;16335952;16046623;15919838;15830186;15489334;15242332;15057044;14755492;14726375;14715500;14585497;12700900;12477932;12097405;9110174;8619474;1375396;9653080;8972912;18029348;19361461;18991279;18644360;18005095;17490641;17431736;17400359;17393062;17256751;17006978;16806498;16556889;16511016;16507887;16361866;23120772;18853098;19761765;19789505;19861682;20063021;20512991;21282368;21139198;22753196;22618595;21585208;21114364;19764817;21821708;21819380;22714978;21512782;22133888;16344560;21988832;23349812 8639 K7EIK5;K7EL47;K7EQZ5;K7ESB3;L0L8N9;Q16853;Q9UEU7 AB050502;ABBA01006405;AC016889;AF054985;AF067406;AK025727;AK315129;AMYH01008398;BC036368;BC050549;CH471152;DA592022;DB250074;DQ143944;JX020506;NM_001277731;NM_001277732;NM_003734;NR_102422;U39447 AAC09346;AAC25170;AAC50919;AAH50549;AAZ38716;AGB67480;BAB18866;BAG37582;EAW60897;NP_001264660;NP_001264661;NP_003725;Q16853 Hs.198241 1663429;1663431;1675473;1770053;1795362 AOC3_83;RH11943;RH68315;RH81032;WI-20493 HPAO;SSAO;VAP-1;VAP1 amine oxidase, copper containing 3 (vascular adhesion protein 1);copper amine oxidase;membrane primary amine oxidase;placenta copper monamine oxidase;semicarbazide-sensitive amine oxidase;vascular adhesion protein 1;vascular adhesion protein 1 splice variant 2, VAP-1A3 APPROVED protein-coding ENSG00000131471 550 04770 603735 REVIEWED 1347570 AP1AR adaptor-related protein complex 1 associated regulatory protein 4 4 4 q25 110446973 110485290 + 113372430 113410655 + 113152895 113191211 + 737633;6480464 12477932 11256614;16381901;16344560;15815621;15775984;15489336;15489334;15144186;11230166;11076863;8889548;19706427;19965873;20332099;18029348;21525240;21139048;19322201 55435 H0Y8Y4;Q63HQ0 ABBA01063814;AC109347;AF116612;AI273122;AK310787;AK315299;AL136628;AMYH01014468;BC009485;BM974015;BX647702;CH471057;DA463845;NM_001128426;NM_018569 AAF71037;AAH09485;AAY40962;ACE86577;ACE87260;BAG37704;CAB66563;CAH56145;CAL37652;CAL37924;CAL38032;CAL38480;CAL38584;EAX06268;EAX06269;EAX06270;EAX06271;EAX06272;NP_001121898;NP_061039;Q63HQ0 Hs.435991;Hs.606210 1711074;1717343 RH122162;SHGC-86173 2C18;C4orf16;GBAR;PRO0971;gamma-BAR AP-1 complex-associated regulatory protein;OTTHUMP00000163749;OTTHUMP00000219661;adapter-related protein complex 1-associated regulatory protein;gamma-1-adaptin brefeldin A resistance protein;gamma1-adaptin brefeldin A resistance protein, gamma-BAR APPROVED protein-coding ENSG00000138660 28808 12824 610851 VALIDATED 1350470 AP1B1 adaptor-related protein complex 1, beta 1 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 22 22 q12.2 28053669 28114569 - 29723669 29784572 - 734576;1580863;6480464;6484113 7987321 9733768;15569716;15862967;15752756;15461802;15231748;15063762;12477932;12419313;12070169;11926829;11451993;11409905;11106728;10966473;10931822;10535737;10097102;9707615;8812422;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;11877451;10608806;16009131;21145461;21319273;10737800;11031247;11252894;11694590;12429846;16344560;17290217;20009918;7593184;8975699;9280305;18614564;21444685;12538641;22863883;22939629;22990118;22360420;16196087;22586326;21139048;21890473;21906983;21987572;23383273;10747088;21988832;23000965;23205726;18336259;19149577;19380743;20594957;22103831 162 C9J1E7;H7C034;Q10567 ABBA01055261;AC002059;AI084003;AK294406;AK296567;AK299613;AMYH01012695;AU139022;BC046242;BG999878;BM909530;BX537680;CD364485;CH471095;CT841508;HB900728;HC958137;L13939;NM_001127;NM_001166019;NM_145730;U36267;U36268;Y07848 AAC50684;AAC98702;AAH46242;BAG57658;BAG59187;BAG61541;CAD97809;CAJ86438;CAK54367;CAK54666;CBF79614;CBU99115;EAW59798;EAW59799;EAW59800;NP_001118;NP_001159491;NP_663782;Q10567 Hs.368794 1685524;1705854;1717655;1816194;2011526;2011556;2135244;2218224;5117042 AP1B1__4319;ECD09137;GDB:386099;REN76685;REN76702;RH122132;RH17619;RH27786;SHGC-81187 ADTB1;AP105A;BAM22;CLAPB2 AP-1 complex subunit beta-1;Golgi adaptor HA1/AP1 adaptin beta subunit;OTTHUMP00000199165;OTTHUMP00000199166;OTTHUMP00000199168;adapter-related protein complex 1 subunit beta-1;adaptor protein complex AP-1 subunit beta-1;beta-1-adaptin;beta-adaptin 1;beta-prime-adaptin;beta1-adaptin;clathrin assembly protein complex 1 beta large chain;plasma membrane adaptor HA2/AP2 adaptor beta subunit APPROVED protein-coding ENSG00000100280 554 02541 600157 REVIEWED 1346195 AP1G1 adaptor-related protein complex 1, gamma 1 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q23 70320404 70400477 - 71762903 71842976 - 1580863;6480464 12505986;12498786;12477932;12429846;12042876;11950833;11926829;11872161;11451993;11418592;11409905;11331585;11106728;10814529;10747088;10535737;10477754;8125298;11222723;9882340;16253302;15681409;12486136;15469849;9653655;9733768;12536145;15569716;16867982;15775984;15143060;14702039;14665628;12773381;11031247;11252894;11694590;20379614;7593184;16162817;19841138;22863883;12538641;22939629;11387476;17538020;21139048;21906983;17052248;17581864;18073204;18336259;19149577;19895210;20299515;20594957;21543478;21762802;22345475 164 B3KNW1;B3KXW5;B4DGE1;H3BN71;H3BN75;H3BNN2;H3BNR4;H3BPN9;H3BR36;H3BRM7;H3BS13;H3BUN9;H3BV30;J3KQU9;O43747;Q8IY97 AB015317;ABBA01016782;ABBA01016783;ABBA01016784;ABBA01016785;AC009097;AC010653;AJ224112;AJ224113;AJ224114;AK025020;AK055122;AK128078;AK225906;AK293233;AK294546;AK299630;AK314484;AL110198;AMYH01007790;AMYH01007791;BC003414;BC036283;BC051747;BU902252;CH471166;NM_001030007;NM_001128;Y12226 AAH03414;AAH36283;ACE86968;ACE87658;BAA33389;BAG51473;BAG54627;BAG56772;BAG57752;BAG61558;CAA11832;CAA72902;CAB53673;EAW59222;EAW59223;EAW59224;NP_001025178;NP_001119;O43747 Hs.461253 1680801;1684764;1691172;2111394;2142453;2148206;2175481 D16S2532E;D16S3294;RH48231;RH65105;RH65224;SHGC-60759;SHGC-61470 ADTG;CLAPG1;MGC18255 AP-1 complex subunit gamma-1;adapter-related protein complex 1 subunit gamma-1;adaptor protein complex AP-1 subunit gamma-1;clathrin assembly protein complex 1 gamma large chain;clathrin assembly protein complex 1 gamma-1 large chain;clathrin-associated/assembly/adaptor protein, large, gamma 1;gamma adaptin;gamma1-adaptin;golgi adaptor HA1/AP1 adaptin gamma subunit;golgi adaptor HA1/AP1 adaptin subunit gamma-1 APPROVED protein-coding ENSG00000166747 555 04637 603533 REVIEWED 1313902 AP1G2 adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. There are two alternatively spliced transcript variants of this gene encoding the same protein. [provided by RefSeq, Jul 2008] 14 14 q11.2 23098616 23107119 - 24028777 24037279 - 1580863;6480464 12505986;15231747;9733768;9762922;18029348;18772139;17553870;14702039;14665628;12477932;10477754;11222723;9882340;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;10814529;11333915;21658281;20708039;21139048;21890473;21906983;16713569;18336259;19149577;20594957;21762802;22103831;22345475;22505724 8906 G3V2V9;G3V3Z2;G3V532;H0YJ08;H0YJ47;O75843;Q86V28 AB015318;ABBA01061322;AF068706;AK096034;AK123354;AK226158;AK304682;AK307696;AK309103;AK310451;AL135999;AMYH01005604;BC051833;BX161425;BX247963;CH471078;NG_011937;NM_003917 AAC67390;AAH51833;BAA33390;BAG65453;CAD61898;CAD62302;EAW66132;EAW66134;EAW66138;NP_003908;O75843 Hs.343244 1651525;1675005;2120685;2125461;2140713;2150164;2160768;2191125;7186288 A005Y33;D14S104E;D14S671E;HSC22E052;MARC_14914-14915:1012936331:1;RH15730;RH64872;SHGC-24169;STS-AA004314 G2AD AP-1 complex subunit gamma-like 2;OTTHUMP00000164599;OTTHUMP00000164600;clathrin-associated/assembly/adaptor protein, large, gamma-2;gamma2-adaptin APPROVED protein-coding ENSG00000213983 556 04638 603534 REVIEWED 1354372 AP1M2 adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. [provided by RefSeq, Jul 2008] 19 19 p13.2 10544347 10558991 - 10683347 10697991 - 1580863;6480464 17220478;10338135;15569716;18356317;17261850;17145811;16343431;15489334;14702039;12477932;12134076;12086608;12010461;11573956;11157985;10887964;10640811;10535737;9794796;9714795;8810314;8125298;7569928;11222723;9882340;16189514;15182197;11031247;11252894;11694590;17381423;21048031;17207965;21163940;16574660;21139048;21906983;21762802 10053 K7EJJ1;K7EK69;K7EL08;K7EMG5;K7EPI9;K7EPR4;K7ERH5;Q9Y6Q5 ABBA01029910;ABBA01029911;ABBA01029912;AC011475;AF020797;AK023863;AK222946;AK315689;AMYH01009478;BC003387;BC003612;BC005021;BE044092;CH471106;NM_005498 AAD25870;AAH03387;AAH03612;AAH05021;ADQ31755;BAD96666;BAG38052;BAG51230;EAW84124;EAW84125;NP_005489;Q9Y6Q5 Hs.18894 1653301;1699356;2109041;2181521 AP1M2_9035;D18S389;RH103265;STS-R00451 AP1-mu2;HSMU1B;MU-1B;MU1B;mu2 AP-1 complex subunit mu-2;AP-mu chain family member mu1B;HA1 47 kDa subunit 2;adaptor protein complex AP-1 mu-2 subunit;adaptor-related protein complex 1 mu-2 subunit;clathrin assembly protein complex 1 medium chain 2;clathrin coat assembly protein AP47 2;clathrin coat associated protein AP47 2;clathrin-associated adaptor medium chain mu2;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-2 subunit;mu-adaptin 2;mu1B-adaptin APPROVED protein-coding ENSG00000129354 558 06296 607309 REVIEWED 1316969 AP1M1 adaptor-related protein complex 1, mu 1 subunit The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.12 16169731 16207151 + 16308665 16346156 + 1580863;6480464;6484113 12477932;14691137;15569716;18057255;17988225;16189514;15489334;15182197;14702039;14608369;9812899;9653655;8889548;8810314;7593184;7569928;11222723;9882340;9400603;16253302;11208076;9314527;9052838;9586638;9564030;15681409;12836198;12486136;11463741;9811611;9811606;9736718;12010461;11598115;11591131;11583591;11247301;11157985;11106728;10887964;10809756;10535737;11031247;11252894;11694590;15254094;19060904;20833140;19841138;10814565;22863883;22939629;22301137;21139048;21890473;21906983;10747088;15174051;23000965;23478262;17538020;17581864;18073204;18336259;19149577;20012524;20020046;20594957;21762802;21841072;21917951;22004035;22103831;22190034;22505724;22705789;22767237;22797925 8907 B3KNH5;B4DDG7;E7ENJ6;K7EJL1;K7ENA7;K7EPJ8;K7EQ90;K7EQX3;K7ER75;Q59EK3;Q9BXS5 AB209808;ABBA01051134;ABBA01051135;ABBA01051136;AC020911;AF290613;AK027528;AK293188;AK297824;AMYH01009559;AMYH01009560;AMYH01009561;BC017469;BQ014582;BU729646;CH471106;DC386056;DQ059565;NM_001130524;NM_032493 AAH17469;AAK28024;AAY54246;BAD93045;BAG51337;BAG56728;BAG60161;EAW84539;EAW84540;NP_001123996;NP_115882;Q9BXS5 Hs.71040 2144367;2144597;5093170 A009I07;G32561;RH15920 AP47;CLAPM2;CLTNM;MU-1A AP-1 complex subunit mu-1;AP-mu chain family member mu1A;HA1 47 kDa subunit;adaptor protein complex AP-1 mu-1 subunit;adaptor-related protein complex 1 mu-1 subunit;clathrin adaptor protein AP47;clathrin assembly protein complex 1 medium chain 1;clathrin assembly protein complex 1, medium chain;clathrin assembly protein complex AP1, mu subunit;clathrin coat assembly protein AP47;clathrin coat-associated protein AP47;golgi adaptor AP-1 47 kDa protein;golgi adaptor HA1/AP1 adaptin mu-1 subunit;mu-adaptin 1;mu1A-adaptin APPROVED protein-coding ENSG00000072958 13667 04639 603535 REVIEWED 1314226 AP1S1 adaptor-related protein complex 1, sigma 1 subunit The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008] 7 7 q22.1 100584406 100591277 + 100797686 100804557 + 6480464;7240710 9733768;15569716;19057675;15489334;12853948;12477932;12215646;11707398;10966473;10535737;9847074;9653655;2040623;11222723;9882340;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;7593184;17353931;15469849;11031247;11252894;11694590;16548883;18781797;21139048;21906983;21987572;22939629;10747088;21963094;23000965;23423674;18336259;19149577;19895210;20594957;21762802;22103831 1174 H7C1E4;P61966 AB015319;ABBA01011349;AC004876;AK312151;AMYH01017750;BC003561;BI597121;BI598615;BI857465;BT006779;CH471197;NG_033082;NM_001283 AAD45829;AAH03561;AAP35425;BAA33391;BAG35085;EAW50198;EAW50199;EAW50200;NP_001274;P61966 Hs.489365;Hs.730952 2127513 RH71410 AP19;CLAPS1;FLJ92436;MEDNIK;SIGMA1A;WUGSC:H_DJ0747G18.2 AP-1 complex subunit sigma-1A;HA1 19 kDa subunit;OTTHUMP00000211467;OTTHUMP00000211468;OTTHUMP00000211469;adapter-related protein complex 1 sigma-1A subunit;adaptor protein complex AP-1 sigma-1A subunit;clathrin assembly protein complex 1 sigma-1A small chain;clathrin coat assembly protein AP19;clathrin-associated/assembly/adaptor protein, small 1 (19kD);golgi adaptor HA1/AP1 adaptin sigma-1A subunit;sigma 1a subunit of AP-1 clathrin;sigma-adaptin 1A;sigma1A subunit of AP-1 clathrin adaptor complex;sigma1A-adaptin APPROVED protein-coding ENSG00000106367 559 04635 603531;609313 REVIEWED 1348501 AP1S2 adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] X X p22.2 15753850 15783021 - 15843929 15873100 - 1580863;6480464;7240710 15681409;15569716;18428203;17617514;17186471;15489334;12477932;12215646;10966473;10398241;9733768;2040623;11222723;9882340;16253302;12486136;12836198;11463741;9811611;9811606;9736718;11031247;11252894;11694590;22939629;21139048;21890473;19322201;18336259;19149577;20594957;21762802;22103831 8905 A6NH01;B4DSU4;B7Z3M9;H0Y673;H7BZG6;P56377;Q549M9 AB015320;ABBA01071359;ABBA01071360;ABBA01071361;AC004106;AF087876;AF091077;AF251295;AK130075;AK296135;AK299921;AK312594;AMYH01022110;BC001117;BC071867;BI462192;BT006738;BX537780;CH471074;DC401898;NG_009274;NM_001272071;NM_003916 AAC72946;AAG44595;AAH01117;AAH71867;AAP35384;AAP97176;ABM81631;ABM84815;BAA33392;BAG61756;BAH12265;CAD97839;EAW98903;EAW98904;EAW98905;EAW98906;EAW98907;EAW98908;NP_001259000;NP_003907;P56377 Hs.121592 1683843;1685295;1694720;1701480;2132226;2139708;2153372;2174053;2179443;2218226 AP1S2__4320;G43551;RH104372;RH16361;RH17799;RH26746;RH47344;RH47350;RH66697;RH91863 DC22;MGC:1902;MRX59;MRXS21;MRXSF;SIGMA1B AP-1 complex subunit sigma-2;OTTHUMP00000022979;OTTHUMP00000022980;OTTHUMP00000022981;OTTHUMP00000022982;adapter-related protein complex 1 sigma-1B subunit;adaptor protein complex AP-1 sigma-1B subunit;clathrin adaptor complex AP1 sigma 1B subunit;clathrin assembly protein complex 1 sigma-1B small chain;clathrin-associated/assembly/adaptor protein small 1-like;golgi adaptor HA1/AP1 adaptin sigma 1B subunit;golgi adaptor HA1/AP1 adaptin sigma-1B subunit;sigma 1B subunit of AP-1 clathrin;sigma-adaptin 1B;sigma1B-adaptin APPROVED protein-coding ENSG00000182287 560 04636 300629;300630 REVIEWED 1323403 AP1S3 adaptor-related protein complex 1, sigma 3 subunit 2 2 2 q36.1 218385952 218468228 - 224328291 224410563 - 224620047 224702319 - 1580863;6480464 15569716;15489334;12477932;11598180;2040623;16253302;15681409;12486136;12836198;11463741;9811611;9811606;9736718;11031247;11252894;11694590;20379614;21906983 130340 B8ZZZ1;C9JZK4;F8W8K9;G5E966;Q96PC3 ABBA01023786;ABBA01023787;ABBA01023788;ABBA01023789;ABBA01023790;ABBA01023791;ABBA01023792;AC012512;AC093884;AF393369;AK025338;AK299026;AMYH01011523;BC009606;BC021898;BE856458;BG177582;BG340480;CH471063;NM_001039569 AAH09606;AAH21898;AAL09586;AAY24166;AAY24244;BAG61103;EAW70813;EAW70814;EAW70815;EAW70816;NP_001034658;Q96PC3 Hs.632555 1337160;1337768;1659300;1759557;5015861;5015961;5016478;5020881;5020946;5022322;5022578;5037552;5109362;7185938 D10S16;D11S2560;D15S1477;D17S1239;D1S1423;D2S133;D2S2228;D8S2279;G16350;GDB:434012;L17709;L17971;SHGC-150747 AP-1 complex subunit sigma-3;OTTHUMP00000164217;OTTHUMP00000213995;OTTHUMP00000229293;adapter-related protein complex 1 sigma-1C subunit;adaptor protein complex AP-1 sigma-1C subunit;clathrin assembly protein complex 1 sigma-1C small chain;golgi adaptor HA1/AP1 adaptin sigma-1C subunit;sigma 1C adaptin;sigma 1C subunit of AP-1 clathrin;sigma-adaptin 1C;sigma1C-adaptin protein-coding 18971 16495 VALIDATED 1314769 AP2A1 adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.33 54961992 55002181 + 50270180 50310369 + 1580863;6480464;6484113;6907045 12036598;16103193;2014052;10567358;11157096;18524831;18178234;15862967;15489334;15231748;15057824;14702039;14517991;12942088;12775724;12595566;12477932;12429846;12364336;11723124;11598180;11532990;11517213;11423532;11331585;17620599;21880590;9259551;11302736;11230166;11170396;10966473;10551776;10436022;10336464;9723620;9280305;9049247;8662627;8617812;7791877;7593184;2564002;17108326;9882340;16139856;15020715;12646615;16055064;16169070;16696976;9651214;16497223;19116314;16055720;10764745;10953014;12057195;22939629;22360420;18781797;20360068;21139048;21890473;21906983;11447109;17581864;18032517;19129443;19380743;19802344;20012524;20594957;21762802;22952844 160 M0R2D9;O95782 ABBA01032909;AC006942;AC011495;AC098783;AF289221;AK094317;AK124343;AK302005;AL136925;AMYH01009918;BC014214;CH471177;NM_014203;NM_130787 AAD15564;AAH14214;AAL11039;AAL11040;ABM83179;ABM86380;BAC04329;BAG63408;CAB66859;EAW52535;EAW52536;EAW52537;NP_055018;NP_570603;O95782 Hs.467125 1687868;1697464;1728923;2109043;2126116;2191055;2191447 AP2A1__4334;Ap2a1;MARC_13831-13832:1006881711:1;MARC_23449-23450:1027106382:1;RH102233;RH75669;STS-AA031950 ADTAA;AP2-ALPHA;CLAPA1 100 kDa coated vesicle protein A;AP-2 complex subunit alpha-1;adapter-related protein complex 2 alpha-1 subunit;adaptin, alpha A;adaptor protein complex AP-2 subunit alpha-1;alpha-adaptin A;alpha1-adaptin;clathrin assembly protein complex 2 alpha-A large chain;clathrin-associated/assembly/adaptor protein, large, alpha 1;plasma membrane adaptor HA2/AP2 adaptin alpha A subunit APPROVED protein-coding ENSG00000196961 561 03016 601026 REVIEWED 735567 AP2A2 adaptor-related protein complex 2, alpha 2 subunit 11 11 p15.5 915841 1002240 + 925809 1012245 + 1580863;6480464;6907045 16103193;2014052;10567358;11157096;19359243;19129443;15489334;15231748;14702039;14530274;12477932;12168954;12086608;12057195;12036598;11707398;11470803;10966473;10748223;10477754;10430869;10048485;9723620;9700202;9195986;9049247;8662627;8617812;8552632;8125298;2564002;17108326;9882340;16139856;15020715;9280305;10809762;11247302;10608806;10910768;16055064;17203073;8889548;23383273;20811636;21832049;22939629;17620599;9182529;22360420;20965945;21139048;21890473;21906983;17052248;18362181;17210199;18032517;19380743;19802344;20012524;20594957;21762802;22103831;22952844;17581864 161 E9PNC4;E9PPY8;E9PPZ3;E9PQP4;E9PR62;E9PS94;H0YDE9;H0YEG0;O94973 AB020706;AB209422;ABBA01015215;ABBA01015216;ABBA01015217;ABBA01015218;AF049527;AK001986;AK027640;AK027891;AK075497;AK094496;AK095725;AK223558;AK293763;AK299364;AL117614;AMYH01003297;AP006477;AP006623;BC006155;BG705558;BI462785;BU735076;CH471158;DB461570;NM_001242837;NM_012305 AAC27505;AAH06155;ABM84367;ABM87778;BAA74922;BAB55435;BAC11653;BAD92659;BAD97278;BAG50999;BAH11590;BAH13015;CAB56015;EAX02416;EAX02417;EAX02418;EAX02419;NP_001229766;NP_036437;O94973 Hs.19121 1648133;1671317;1709554;2161069;5014051;5022200;5022651;5024039;5037552 D11S2921;D16S325;D8S2278;D8S2279;G09846;L18426;RH48949;SHGC-81865;STS-W67158 ADTAB;CLAPA2;FLJ37177;HIP-9;HIP9;HYPJ 100 kDa coated vesicle protein C;AP-2 complex subunit alpha-2;HIP-9;OTTHUMP00000230509;OTTHUMP00000230600;OTTHUMP00000230602;adapter-related protein complex 2 alpha-2 subunit;adaptin, alpha B;adaptor protein complex AP-2 subunit alpha-2;adaptor protein complex ap-2, alpha 2 subunit;alpha-adaptin C;alpha-adaptin C; Huntingtin interacting protein J;alpha2-adaptin;clathrin assembly protein complex 2 alpha-C large chain;clathrin-associated/assembly/adaptor protein, large, alpha 2;huntingtin yeast partner J;huntingtin-interacting protein 9;huntingtin-interacting protein J;plasma membrane adaptor HA2/AP2 adaptin alpha C subunit protein-coding ENSG00000183020 562 06256 607242 VALIDATED 734047 AP2B1 adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2-q12 30938395 31077549 + 33914282 34053436 + 6480464;6907045 12221107;16103193;2014052;16903783;16581796;16189514;15761153;15592455;15489334;14530274;12900408;12732633;12477932;12429846;12429842;12419313;12086608;11777907;11170396;10966473;10944104;9707615;8595912;8262066;1969413;17108326;9882340;16139856;15020715;11285224;11463741;9811611;9384576;17353931;20936779;10097102;10567358;11157096;12070169;15533940;15897975;16055064;17290217;18843039;19469909;19509056;19615732;19903820;9651214;22863883;21118812;10748223;17620599;22586326;22360420;21252943;22558309;18781797;20360068;20965945;21139048;21890473;21906983;18654987;17052248;21628590;21145461;17210199;17267500;19149577;19380743;19802344;20012524;20594957;21762802;22103831;22632162;9341158;22139419 163 K7EJ01;K7EJT8;K7EJX1;K7EKZ5;K7EMN7;K7EN71;K7ERB2;K7ERE4;P63010;Q7Z451;Q96EL6 ABBA01011230;ABBA01011231;ABBA01011232;ABBA01011233;ABBA01011234;AC004134;AC006237;AC015911;AI691147;AK289528;AK292531;AK295667;AK301522;AK304126;AMYH01008354;AY341427;BC006201;BC012150;BQ421703;BX643620;CH471147;CR749392;M34175;NM_001030006;NM_001282 AAA35583;AAH06201;AAH12150;AAQ20044;ABM84208;ABM87612;BAF82217;BAF85220;BAG58527;BAG63026;BAG65023;CAH18240;EAW80133;EAW80134;EAW80135;EAW80136;EAW80137;EAW80138;EAW80139;EAW80140;EAW80141;EAW80142;NP_001025177;NP_001273;P63010 Hs.514819 1654301;1657567;1674652;1721585;1729233;2118925;2128032;2129493;2144472;2170233;2180156;2186017;2190777;2191675;5127569;5491942 AP2B1-1;CLAPB1;D17S1669;D17S1690;D17S2061;G59802;G62209;IB756;MARC_4629-4630:966894533:1;RH12574;RH47464;SGC44707;SHGC-52481;SHGC-57242;STS-W92018;WI-18136 ADTB2;AP105B;AP2-BETA;CLAPB1;DKFZp781K0743 AP-2 complex subunit beta;adapter-related protein complex 2 beta subunit;adaptin, beta 2 (beta);adaptor protein complex AP-2 subunit beta;beta-2-adaptin;beta-adaptin;clathrin assembly protein complex 2 beta large chain;clathrin-associated/assembly/adaptor protein, large, beta 1;plasma membrane adaptor HA2/AP2 adaptin beta subunit APPROVED protein-coding ENSG00000006125 563 03015 601025 REVIEWED 1350921 AP2M1 adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q28 185375328 185384573 + 183892634 183901879 + 6480464;6484113;6907045 12032142;7989329;8595912;11285224;16103193;2014052;17108328;19419997;18523139;18032517;17290396;17289840;16880396;16723738;16501101;16498080;16263766;16189514;15916959;15911768;15778375;15489334;15182197;12952941;12646615;12644451;12621057;12477932;12421765;12086608;12010461;11742978;11591131;11583591;11247302;10910768;10887964;10593987;9812899;9571248;9256472;9200449;9013859;8491205;8257432;7788527;7569928;17108326;11222723;9882340;9400603;16139856;15020715;16116206;15611114;17666399;18474601;7593184;11454741;15647482;22916011;20029029;20485680;10567358;11157096;15254094;16055064;16902404;17220478;19578796;19903820;21145461;11031247;9651214;10814565;20965945;18056411;20186120;15604093;20360068;21078624;21139048;21890473;21906983;21987572;22472876;12057195;16713569;17984062;20639872;21182205;17210199;17267500;18187620;18524831;18596106;19380743;19478868;19895210;20012524;21762802;22004035;22103831;22363329;22797925 1173 C9JGT8;C9JJ47;C9JJD3;C9JPV8;C9JTK4;E9PFW3;H7C4C3;Q96CW1 ABBA01058455;AC131235;AK057883;AK294159;AK295999;AK297578;AK297849;AK300228;AK304510;AK310409;AMYH01013711;BC004996;BC013796;BC014030;BI461415;BT007308;CH471052;D63475;FB336127;HH767466;NM_001025205;NM_004068;U36188 AAA93254;AAH04996;AAH13796;AAH14030;AAP35972;ABM83802;ABM86841;BAA09762;BAG57482;BAG58773;BAG60181;BAG61996;BAG65316;BAH12618;CAR81017;CBX84495;EAW78290;EAW78291;EAW78292;NP_001020376;NP_004059;Q96CW1 Hs.518460 1670513;1673534;1676212;1735168;1775349;1776302;1858134;2107837;2115021;2116456;2191019 AP2M1_8258;D3S2818E;IB1255;IB397;MARC_13450-13451:1002298269:1;RH92621;SHGC-7485;SHGC-77602;SHGC-77604;STS-R80399;UTR-04950 AP50;CLAPM1;mu2 AP-2 complex subunit mu;AP-2 mu 2 chain;AP-2 mu chain;HA2 50 kDA subunit;OTTHUMP00000210694;OTTHUMP00000210695;OTTHUMP00000210696;OTTHUMP00000210697;OTTHUMP00000210701;adapter-related protein complex 2 mu subunit;adaptin-mu2;adaptor protein complex AP-2 subunit mu;clathrin adaptor complex AP2, mu subunit;clathrin assembly protein complex 2 medium chain;clathrin coat adaptor protein AP50;clathrin coat assembly protein AP50;clathrin coat-associated protein AP50;clathrin-associated/assembly/adaptor protein, medium 1;plasma membrane adaptor AP-2 50 kDa protein;plasma membrane adaptor AP-2 50kDA protein APPROVED protein-coding ENSG00000161203 564 03014 601024 REVIEWED 1319021 AP3B2 adaptor-related protein complex 3, beta 2 subunit Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008] 15 15 15 q 61202181 61252080 + 81125088 81175689 - 83328033 83378635 - 1580863;6480464 7671305;17453999;16788073;15489334;14702039;12565890;12477932;10930456;9707615;9545220;9118953;1851215;11877451;19481122;20531441;18029348;17620599;18076669;20467438;23118302 8120 B7ZKR7;B7ZKS0;F5GWU4;F5GYB0;H0YH30;Q13367 ABBA01029418;ABBA01029419;ABBA01029420;ABBA01029421;ABBA01029422;ABBA01029423;AC105339;AF022152;AK097827;AK294331;AMYH01006854;AMYH01006855;AMYH01006856;BC008350;BC026700;BC035640;BC093739;BC143342;BC143346;BI914720;BQ777385;CH471188;CR749860;DQ092369;FJ695193;NM_001278511;NM_001278512;NM_004644;U37673 AAB71894;AAC50219;AAH93739;AAI43343;AAI43347;AAZ38147;BAG53536;BAG57603;CAH18704;EAW62447;NP_001265440;NP_001265441;NP_004635;Q13367 Hs.199593 1768258;1846633;2139561 RH66690;WI-21100;WI-22674 DKFZp686D17136;NAPTB AP-3 complex subunit beta-2;Neuronal adaptin-like protein, beta-subunit;OTTHUMP00000237554;OTTHUMP00000237555;OTTHUMP00000237556;adapter-related protein complex 3 subunit beta-2;adaptor protein complex AP-3 subunit beta-2;beta-3B-adaptin;clathrin assembly protein complex 3 beta-2 large chain;neuron-specific vesicle coat protein beta-NAP APPROVED protein-coding ENSG00000103723 567 03699 602166 VALIDATED 732482 AP2S1 adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts. [provided by RefSeq, Jul 2008] 19 19 q13.2-q13.3 52033263 52046043 - 47341423 47354203 - 1580863;737778;6480464;6907045;7240710 9466969 10753805;9040778;16103193;2014052;15489334;12477932;12086608;9767099;7593184;2495531;2040623;17108326;9882340;16139856;15020715;17353931;10567358;11157096;16055064;19738201;21963094;21988832;22623428;23000965;21139048;21890473;21906983;21987572;17210199;19380743;20012524;21762802;22505724;23222959 1175 M0QYZ2;M0QZ21;M0R0N4;M0R1S0;P53680 ABBA01040989;ABBA01040990;AC008622;AC098794;AJ010148;AJ010149;AK312003;AMYH01009872;BC006337;BF970609;BQ684675;BU564736;CH471126;H46780;NG_033136;NM_004069;NM_021575;X97074 AAH06337;ADZ15785;BAG34941;CAA09018;CAA09019;CAA65782;EAW57448;EAW57449;NP_004060;NP_067586;P53680 Hs.119591 1653053;1685874;1725569;1847336 G62010;RH47043;RH80522;STS-X97074 AP17;AP17-DELTA;CLAPS2;HHC3 AP-2 complex subunit sigma;HA2 17 kDa subunit;adapter-related protein complex 2 sigma subunit;adaptor protein complex AP-2 subunit sigma;clathrin assembly protein 2 small chain;clathrin coat assembly protein AP17;clathrin coat-associated protein AP17;clathrin-associated/assembly/adaptor protein, small 2 (17kD);plasma membrane adaptor AP-2 17 kDa protein;sigma2-adaptin APPROVED protein-coding ENSG00000042753 565 03762 600740;602242 REVIEWED 1321051 AP3B1 adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 5 5 q14.1 77333906 77626284 - 77298150 77590528 - 1580863;1578409;6480464;7240710 12125811 17353931;17622474;9931340;9151686;19481122;19320733;19023099;18410487;18000860;17975119;17569884;17081983;16551969;16537806;16112646;15489334;12477932;12062430;11877451;11809908;10024875;9182526;8413179;8125298;11926829;14657250;12419313;19246570;19679886;19934039;20379614;9545220;19841138;19913121;20628086;22939629;22863883;21139048;21890473;21906983;23000965;18781797;21901158;20301464;16344560;18076669;20133826;22875976;22952844 8546 E5RJ68;H0YBD0;O00203 ABBA01061990;ABBA01061991;ABBA01061992;ABBA01061993;ABBA01061994;AC024568;AC024578;AC104108;AC112197;AF247736;AK225908;AK291201;AK303300;AL708147;AMYH01015429;AMYH01015430;AMYH01015431;AY623424;BC020230;BC038444;BX538041;CH471084;DA889915;NG_007268;NM_001271769;NM_003664;U81504;U91931 AAB61638;AAD03778;AAG01739;AAH38444;AAT49048;ABM85841;ABW03740;BAF83890;BAG64374;CAD97982;EAW95811;EAW95812;EAW95813;NP_001258698;NP_003655;O00203 Hs.532091 1646877;1654848;1705370;1709526;1728085;1785706;2109045;2146083;5122050 1842;A002S29;AP3B1_8826;G63314;L31442;RH16414;SHGC-79370;SHGC-81837;SHGC-83541 ADTB3;ADTB3A;HPS;HPS2;PE AP-3 complex beta-3A subunit;AP-3 complex subunit beta-1;OTTHUMP00000133884;OTTHUMP00000222448;adapter-related protein complex 3 subunit beta-1;adaptor protein complex AP-3 subunit beta-1;beta-3A-adaptin;beta3A-adaptin;clathrin assembly protein complex 3 beta-1 large chain APPROVED protein-coding ENSG00000132842 566 04551 603401;608233 REVIEWED 6767156 AP4B1-AS1 AP4B1 antisense RNA 1 1 p13.2 114399257 114443859 + 14702039 100287722 ABBA01068458;AK123199;AL137856;AMYH01000964;NR_037864 Hs.664669 1645401;1685399;5022322;5037552 D11S2560;D8S2279;RH98904;SHGC-75343 APPROVED miscrna ENSG00000226167 44114 VALIDATED 735940 AP3M2 adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008] 8 8 8 p11.2 40959278 40977658 + 42129761 42147858 + 42010464 42028701 + 1580863;6480464 17293072;15489334;12477932;8076832;7601449;1602151;9400603;19481122;18076669;20012524;22952844 10947 E5RGF3;E5RI83;E5RJ52;E7ER80;H0YAY4;H0YBA0;H0YBM0;P53677;Q7Z472 AA854640;ABBA01021151;AC103724;AK315228;AMYH01018678;BC021966;BC056257;BC056398;BI461390;BX648354;BX648390;CH471080;D38293;FB336135;HH767474;NM_001134296;NM_006803 AAH56257;AAH56398;ACE86863;ACE87551;BAA07415;BAG37657;CAR81021;CBX84499;EAW63236;EAW63237;EAW63238;NP_001127768;NP_006794;P53677 Hs.654529 1645500;2130069;2138880 A004G41;SGC30244;SHGC-31558 AP47B;CLA20;P47B AP-3 complex subunit mu-2;HA1 47 kDa subunit homolog 2;HA1 47kDA subunit homolog 2;OTTHUMP00000225723;OTTHUMP00000225725;OTTHUMP00000225726;OTTHUMP00000229134;adapter-related protein complex 3 mu-2 subunit;clathrin assembly protein assembly protein complex 1 medium chain homolog 2;clathrin coat assembly protein AP47 homolog 2;clathrin coat-associated protein AP47 homolog 2;clathrin-associated protein AP47 homolog 2;golgi adaptor AP-1 47 kDA protein homolog 2;mu3B-adaptin APPROVED protein-coding ENSG00000070718 570 09801 610469 REVIEWED 1318559 AP3D1 adaptor-related protein complex 3, delta 1 subunit The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 p13.3 2051993 2102556 - 2100987 2151556 - 1580863;6480464 9182526;9303295;9151686;19481122;18034776;17081983;16457822;16162817;15766529;15489334;15469849;15057824;14702039;14657250;12967569;12853575;12477932;11926829;11331585;10559961;9697856;9482728;15681409;12486136;10814565;17349999;18775314;19851296;20198315;20379614;22863883;22939629;8889548;21139048;21890473;17620599;19805454;21963094;17210199;18076669;20012524;20594957;21841072;22004035;22103831;22363329;22705971;22833563;22875976;22952844 8943 E7EMM2;G5E988;K7ELX8;K7ERW8;O14617 AB208804;ABBA01002710;AC005257;AC005328;AC005545;AF002163;AF130042;AK094460;AK128692;AK310099;AK315899;AMYH01009274;AY954498;BC005142;BC010065;BC022837;BM982261;BQ227203;CH471139;NM_001261826;NM_003938;U91930 AAC25623;AAC27670;AAC34212;AAC34214;AAC51761;AAD03777;AAG35473;AAH05142;AAH10065;ADZ15549;BAD92041;BAF98790;BAG52868;EAW69412;EAW69416;NP_001248755;NP_003929;O14617 Hs.512815 1676744;1683805;1789358;2131775;2186790;2186792 A002D02;G19943;G67894;RH93528;SHGC-23975;WI-19632 ADTD;hBLVR AP-3 complex delta subunit, partial CDS;AP-3 complex subunit delta;AP-3 complex subunit delta-1;adapter-related protein complex 3 subunit delta-1;adaptin, delta;delta adaptin;delta-adaptin, partial CDS;subunit of putative vesicle coat adaptor complex AP-3 APPROVED protein-coding ENSG00000065000 568 06260 607246 VALIDATED 1350010 AP3S2 adaptor-related protein complex 3, sigma 2 subunit 15 15 q26.1 88177792 88238206 - 90373831 90437617 - 1580863;6480464 9118953;16344560;15489334;15469849;14702039;12967569;12477932;12019270;11907283;9182526;8125298;11926829;20966410;21987572;21139048;21906983;21874001;18076669;20012524;22505724 10239 B4DGQ3;H0YKM3;H0YLI7;H0YLX6;H0YNI6;P59780 ABBA01053027;ABBA01053028;ABBA01053029;AC018988;AC027176;AK222698;AK294712;AK312467;AL109702;AL110108;AMYH01006918;AMYH01006919;AW402906;BC002785;BC007773;BC010020;BC010615;BX098014;CH471101;DA268327;DA337392;DA464242;DA752479;DA777624;DB322370;DC340463;DC410373;DR158459;NM_005829;NR_023361;NR_037582;X99459 AAH02785;AAH07773;AAH10020;ABM83908;ABM87229;BAD96418;BAG35374;BAG57864;CAA67824;EAX02071;EAX02072;EAX02073;EAX02074;EAX02075;NP_005820;P59780 Hs.632161 1336932;1767579;2112970;2161595;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D15S526;D1S1423;D8S2279;G17841;L18426;RH11326;RH80031;WI-15468;WI-20835 AP3S3;FLJ35955;sigma3b AP-3 complex sigma-3B subunit;AP-3 complex subunit sigma-2;AP-3 complex subunit sigma-3B;OTTHUMP00000194687;adapter-related protein complex 3 sigma-2 subunit;adaptor complex sigma3B;clathrin-associated/assembly/adaptor protein, small 4, 22-kD;sigma-3B-adaptin;sigma-adaptin 3b;sigma3B-adaptin protein-coding ENSG00000157823 571 03880 602416 VALIDATED 734238 AP3M1 adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 10 10 q22.2 75550021 75580832 - 75880015 75910826 - 1580863;6480464 10024875;15489334;15342556;14702039;12477932;11827452;11742978;11071902;10737800;9794796;9714600;9482728;8889548;15681409;11463741;10814565;12853575;16385451;19481122;19615732;15254094;9182526;19116314;22863883;21139048;21890473;21963094;23000965;23404500;18076669;20012524;20594957;22103831;22797925;22875976;22952844;22833563 26985 Q8NDP0;Q9Y2T2 ABBA01020295;AC012046;AC022026;AC022540;AC091699;AF092092;AI610802;AK001565;AK026983;AK299352;AK315597;AL133610;AL357037;AL731576;AL833820;AMYH01002834;AV722897;AW069033;BC026232;BC067127;BE706537;BM463185;BP230128;BU172918;BU430175;BU679701;CH471083;FB336129;HH767468;NM_012095;NM_207012 AAD20446;AAH26232;AAH67127;ABM84038;ABM87385;ABW03569;BAB15614;BAG61348;CAD38682;CAR81018;CBX84496;EAW54552;EAW54553;EAW54554;NP_036227;NP_996895;Q9Y2T2 Hs.500104 2166027;2173597;5015961;5037552 D10S2342;D15S1477;D8S2279;WI-11846 MGC22164 AP-3 adapter complex mu3A subunit;AP-3 complex subunit mu-1;OTTHUMP00000019859;OTTHUMP00000019860;adapter-related protein complex 3 mu-1 subunit;adaptor-related protein complex ap-3, mu 1 subunit;clathrin adaptor complex AP3, mu-3A subunit;mu-adaptin 3A;mu3A-adaptin APPROVED protein-coding 569 16496 610366 REVIEWED 1322400 AP3S1 adaptor-related protein complex 3, sigma 1 subunit 5 5 5 q22 111126032 111198189 + 115205518 115277677 + 115177619 115249778 + 1580863;6480464 9118953;9792713;8697810;15489334;15469849;14702039;14657250;12967569;12477932;12370188;9151686;16162817;20379614;20512086;21139048;21890473;21906983;22939629;22863883;22990118;19322201;18076669;22505724;22875976 1176 F5H459;Q92572 ABBA01069029;AC010282;AC026449;AK124911;AK126876;AK311843;AMYH01015563;BC000804;BC012614;BI600357;BT009833;BX647735;CH471086;CR450341;D63643;NM_001284;U91932;X99458 AAD03779;AAH00804;AAP88835;ABM82124;ABM85307;BAA09798;BAG34785;CAA67823;CAG29337;EAW48952;EAW48953;NP_001275;Q92572 Hs.740519 1719661;1780868;1780910;1792860;5106465 PMC166143P2;RH123522;WI-11812;bac53103T;bac53227T CLAPS3;Sigma3A AP-3 complex sigma-3A subunit;AP-3 complex subunit sigma-1;AP-3 complex subunit sigma-3A;OTTHUMP00000159125;OTTHUMP00000236881;adapter-related protein complex 3 sigma-1 subunit;clathrin-associated/assembly/adapter protein, small 3;clathrin-associated/assembly/adaptor protein, small 3 (22kD);sigma-3A-adaptin;sigma-adaptin 3a;sigma3A-adaptin protein-coding 2013 03298 601507 VALIDATED 1321485 AP4B1 adaptor-related protein complex 4, beta 1 subunit This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.2 112666893 112676965 - 114239201 114249215 - 114437370 114447741 - 1580863;6480464 17353931;10066790;16710414;15489334;14702039;12477932;12419313;11409905;10436028;22290197;21139048;21906983;21963094;23251661;22797925 10717 B1ALD0;B1ALD1;B1ALD2;B1ALD3;B4DTG3;B7Z4X3;Q9Y6B7 AB209817;ABBA01068458;AF092094;AK001045;AK057567;AK093740;AK298037;AK300204;AK314641;AL137856;AMYH01000964;AW072594;BC014146;BG718098;CH471122;DC299853;DC367373;DC390197;NG_031901;NM_001253852;NM_001253853;NM_006594 AAD20448;AAH14146;ADZ15510;BAD93054;BAG37203;BAG52756;BAG61975;BAH12709;EAW56578;EAW56579;EAW56580;EAW56581;NP_001240781;NP_001240782;NP_006585;Q9Y6B7 Hs.515048 1645401;2218996;5037552 AP4B1__4336;D8S2279;SHGC-75343 BETA-4;CPSQ5;SPG47 AP-4 adapter complex subunit beta;AP-4 complex subunit beta-1;OTTHUMP00000013725;OTTHUMP00000013726;OTTHUMP00000013730;adapter-related protein complex 4 subunit beta-1;beta 4 subunit of AP-4;beta subunit of AP-4;beta4-adaptin;spastic paraplegia 47 APPROVED protein-coding ENSG00000134262 572 06259 607245;614066 REVIEWED 1343936 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.2 28093991 28191516 + 48988238 49085389 + 51200869 51298097 + 1580863;6480464 10436028;15489334;12477932;11707398;11409905;10066790;20972249;21620353;19322201 23431 B4DM48;H0YK94;H0YK95;H0YL95;Q9UPM8 AB030653;ABBA01039089;ABBA01039090;ABBA01039091;ABBA01039092;AC021752;AC022407;AC073964;AF155156;AI143020;AK297290;AK308644;AL355694;AMYH01006641;BC015224;BC040044;BC040045;BC126308;BC130466;BC144025;BC144030;CH471082;CR627314;CR749604;NG_031875;NM_001252127;NM_007347 AAD43326;AAI26309;AAI30467;ADR83286;BAA82969;BAG59760;CAH18399;EAW77411;NP_001239056;NP_031373;Q9UPM8 Hs.413366 1656274;1687964;1755951;2106425;2118711;5015961 AP4E1__4337;D15S1477;G41300;RH93797;SHGC-142770;STS-AA018409 CPSQ4;DKFZp686L12167;SPG51 AP-4 adapter complex subunit epsilon;AP-4 complex subunit epsilon-1;AP-4-EPSILON;adapter-related protein complex 4 subunit epsilon-1;adaptor-related protein complex AP-4 epsilon;epsilon subunit of AP-4;epsilon-adaptin APPROVED protein-coding ENSG00000081014 573 06258 607244;613744 REVIEWED 1348189 AP4S1 adaptor-related protein complex 4, sigma 1 subunit This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] 14 14 14 q12 11360171 11428127 + 30564644 30624759 + 31494312 31565656 + 1580863;6480464 10436028;14702039;12477932;10066790;21832049;16196087;21620353;21139048;18624398 11154 G3V3X7;G3V4P7;G3V5J6;H0YJI3;J3KNK4;Q9Y587 AB030654;ABBA01061408;ABBA01061409;ABBA01061410;ABBA01061411;ABBA01061412;AF155159;AI570549;AK056928;AK098330;AK304115;AK316517;AL049830;AL121808;AMYH01005639;BC001259;BC035622;BF671561;BG702035;BT006701;BX247969;BX388185;CH471078;CR457100;NG_031913;NM_001128126;NM_001254726;NM_001254727;NM_001254728;NM_001254729;NM_007077;R46468 AAD43329;AAH01259;AAP35347;ABM81633;ABM84817;BAA82970;BAG65016;BAH14888;CAD62307;CAG33381;EAW65953;EAW65954;EAW65955;EAW65956;EAW65957;EAW65958;NP_001121598;NP_001241655;NP_001241656;NP_001241657;NP_001241658;NP_009008;Q9Y587 Hs.293411 1341096;1677798;1681496;1685754;1772573;1775174;1855191;2124438;2140044;2141448;2167588;2173517;2183929;5016478;5020946;5022651;5024413;5037552;5092638;5109281;5109362 D11S2921;D14S54;D14S911;D14S918;D17S1239;D1S1425;D8S2279;G32231;G35467;G35637;G35699;G35807;G35832;GDB:434012;L17877;L17971;RH66892;RH68330;RH69503;RH99157;SHGC-56780 AP47B;CLA20;CLAPS4;CPSQ6;FLJ32366;FLJ41011;SPG52 AP-4 adapter complex subunit sigma-1;AP-4 complex subunit sigma-1;OTTHUMP00000178784;OTTHUMP00000244083;OTTHUMP00000244084;OTTHUMP00000244086;OTTHUMP00000244087;OTTHUMP00000244088;adapter-related protein complex 4 subunit sigma-1;clathrin-associated/assembly/adaptor protein, sigma 4;sigma-1 subunit of AP-4;sigma-4-adaptin;sigma4-adaptin APPROVED protein-coding ENSG00000100478 575 06257 607243;614067 REVIEWED 1321015 AP4M1 adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94433789 94439462 + 99537066 99542739 + 99699130 99704803 + 1580863;6480464;7240710 10066790;19559397;18341993;14702039;12690205;12477932;11802162;11707398;11139587;10436028;9794796;9013859;14572453;15254094;17207965;21906983;21620353 9179 C9IZL5;C9JC87;C9JMG3;C9JWL4;F8WCC5;F8WCR6;F8WDR3;H0Y6K1;H7BZV3;H7C0A0;O00189 AACC02000084;ABBA01013238;AC073842;AF020796;AF155158;AK055686;AK293590;AK296651;AK304489;AK315782;AMYH01017726;BC012023;BC018705;BX640759;CH236956;CH471091;DC413622;NG_016312;NM_004722;Y08387 AAD25869;AAD43328;AAH18705;ADQ32212;BAG57057;BAG59249;BAG65298;CAA69667;CAE45865;EAL23854;EAW76594;EAW76595;EAW76596;EAW76597;NP_004713;O00189 Hs.632317 1668168;1757283;2141173 RH68321;SHGC-144694;STS-F01487 CPSQ3;MU-4;MU-ARP2;SPG50 AP-4 complex subunit mu-1;OTTHUMP00000206506;OTTHUMP00000206588;OTTHUMP00000206591;OTTHUMP00000206630;OTTHUMP00000206943;OTTHUMP00000206944;adapter-related protein complex 4 mu-1 subunit;adaptor-related protein complex AP-4 mu4 subunit;mu subunit of AP-4;mu-adaptin-related protein 2;mu-adaptin-related protein-2;mu4;mu4-adaptin APPROVED protein-coding ENSG00000221838 574 03803 602296;612936 REVIEWED 1606994 AP5B1 adaptor-related protein complex 5, beta 1 subunit 11 11 11 q13.1 62868693 62872853 - 65299949 65304398 - 65541369 65548062 - 16189514;15146197;12477932;22022230;21987572;21139048;21890473;21906983 91056 Q2VPB7 ABBA01024102;AF193040;AL834269;AMYH01003725;AP001266;BC004895;BC017264;BC109109;BC109110;BC126905;BC128056;BM927404;CH471076;CN290077;JQ313135;NM_138368 AAG22468;AAH04895;AAI09110;AAI09111;AAI26906;AAI28057;AFA36464;CAD38944;EAW74437;EAW74438;NP_612377;Q2VPB7 Hs.591957 1769076;5020274;5020946;5037552 D8S2279;L17971;L18441;WI-17527 AP-5;DKFZp761E198;PP1030 AP-5 complex subunit beta;AP-5 complex subunit beta-1;adapter-related protein complex 5 beta subunit;adaptor protein 5;adaptor-related protein complex 5;beta-5;beta5;hypothetical protein LOC91056;uncharacterized DKFZp761E198;uncharacterized protein DKFZp761E198 APPROVED protein-coding 25104 13223 614367 VALIDATED 732461 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008] 9 9 q13-q21.1 71235022 71477042 - 72042449 72287275 - 1300048;704404;1580863;6480464 8887653;9822620;9753324;9614075;18836734;16413130;16344560;15699037;15563604;15164053;15024025;14970211;14960569;14756819;12970358;12849748;12514209;12196555;12177192;12093160;12016213;12006486;11115513;11083918;11036064;11010978;10455105;9952408;9585438;9395480;9321393;7719031;7678331;7545337;1968060;22355143;20531236;19720620;20016085;20379614;20468060;20160714;21763699;21178287 320 Q02410 ABBA01033809;ABBA01033810;ABBA01033811;AC208386;AF029106;AF047347;AL162412;AL162421;AL353693;AL355140;AL713639;AMYH01021385;AMYH01021386;AMYH01021387;AMYH01021388;AMYH01021389;AMYH01021390;BF435835;BQ269294;CH471089;DA179202;DA313538;L04953;NM_001163;Z32676 AAA61307;AAC05304;AAC39766;AAI56048;AAI57031;EAW62486;EAW62487;NP_001154;Q02410 Hs.171939;Hs.592974 1667539;1686806;1696038;1731136;1732093;1739881;1754957;1764697;1856744;2114046;2116962;2138398;2156496;2165193;2181622;2218228;7184762;7184858 AB047613;APBA1__4338;D9S1154;D9S1754;D9S2022;D9S327;D9S411E;G15857;RH17597;RH48024;RH93021;SHGC-141873;SHGC-148287;SHGC-83193;WI-16198;WI-17743 D9S411E;LIN10;MINT1;X11;X11A;X11ALPHA OTTHUMP00000021438;adapter protein X11alpha;adaptor protein X11alpha;amyloid beta (A4) precursor protein-binding, family A, member 1 (X11);amyloid beta A4 precursor protein-binding family A member 1;mint-1;neuron-specific X11 protein;neuronal munc18-1-interacting protein 1;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000107282 578 03879 602414 REVIEWED 1345016 AP5S1 adaptor-related protein complex 5, sigma 1 subunit 20 20 20 p13 3863077 3867828 + 3749203 3753954 + 3801171 3805954 + 6480464 15489334;14702039;12477932;11780052;16344560;22022230 55317 A2A2L4;Q5JX74;Q9NUS5 ABBA01053834;AI338486;AK002030;AK093332;AL109804;AMYH01011679;BC011985;BC043344;CH471133;CS300639;DA129391;DA253969;DB190907;NM_001204446;NM_001204447;NM_018347 AAH43344;BAA92045;BAG52692;CAK32303;EAX10483;EAX10484;EAX10485;EAX10486;NP_001191375;NP_001191376;NP_060817;Q9NUS5 Hs.104806 1715103 RH119504 C20orf29;FLJ11168 AP-5 complex subunit sigma-1;OTTHUMP00000030129;OTTHUMP00000030130;OTTHUMP00000030131;OTTHUMP00000161028;adapter-related protein complex 5 sigma subunit;hypothetical protein LOC55317;protein C20orf29;sigma5 APPROVED protein-coding ENSG00000125843 15875 16649 614824 VALIDATED 733293 APAF1 apoptotic peptidase activating factor 1 This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 q23 97563209 97653342 + 99039078 99129211 + 1580863;704404;2313998;2325742;2325748;2325750;2325739;2325745;2292105;2325751;6480464;6907045 18931364;17640469;14973070;11753565;17224646;17029665;18205898;11567033 15009102;10383829;9267021;10949025;9753320;10441496;9390557;9922454;19238172;19141860;19074885;19058789;18834886;18676680;18587251;18719738;18439902;18373966;18093951;18042457;17885667;17882496;17876870;17603079;17541304;17534194;17361096;17348858;17133271;17081983;16951219;16595687;16420245;16331630;16232302;16231040;16098052;16046141;15972851;15863166;15832175;15832174;15703181;15692060;15649154;15590702;15378005;15305193;15262985;15033720;15026369;14993223;14747474;14566819;12963020;12804598;12637514;12615903;12168954;12149244;12147322;12021264;11864614;11550094;11457460;11389439;11230124;11113115;10934467;10764728;10722681;10702682;10578182;10543941;10486928;10393175;10376594;10364241;10322433;10206961;9878060;9837928;9829980;9651578;9539746;9488720;9455477;15103018;15829969;20977544;12477932;15735003;16979168;17274640;17418785;19170196;19455599;19603830;19625176;19675677;19692168;19801675;19809088;20379614;20453000;20345447;18029348;20959405;19913121;20628086;23085065;21104989;19662370;21528061;21297999;21659556;21922274;22246185;12549820;15001356;22632162;18309324;23521171;21139048;21890473;21906983;22143029;19322201;22101335;11242052;19698783;23207240;22996741;22335196 317 C9JLV4;F8VNZ0;Q9UJ65 AB007873;AB070829;AB103079;ABBA01053281;ABBA01053282;AC011248;AC013283;AF013263;AF134397;AF149794;AF248734;AJ133643;AJ133644;AJ133645;AJ243003;AJ243004;AJ243005;AJ243006;AJ243007;AJ243008;AJ243009;AJ243010;AJ243011;AJ243048;AJ243107;AK307509;AMYH01004692;AMYH01004693;BC136531;BC136532;BC150255;CH471054;EF560718;NG_029094;NM_001160;NM_013229;NM_181861;NM_181868;NM_181869 AAC51678;AAD34016;AAD38344;AAI36532;AAI36533;AAI50256;AAK28401;ABQ59028;BAA24843;BAC77343;CAB55579;CAB55580;CAB55581;CAB55582;CAB55583;CAB55584;CAB55585;CAB55586;CAB55587;CAB55588;CAB56462;CAB65085;CAB65086;CAB65087;EAW97603;EAW97604;EAW97605;EAW97606;EAW97607;EAW97608;EAW97609;EAW97610;EAW97611;NP_001151;NP_037361;NP_863651;NP_863658;NP_863659;O14727 Hs.552567 1704172;1704188;1704192;1774124;1794152;2106951;2151720;5014467;5016478;5020885;5022651;5037552;5093142 A009H22;APAF1_7746;D11S2921;D8S2279;G32545;GDB:313557;GDB:434012;L17791;PMC310794P40;RH69665;SHGC-79800;SHGC-79820;SHGC-79823 APAF-1;CED4;DKFZp781B1145 OTTHUMP00000243255;OTTHUMP00000243256;OTTHUMP00000243258;OTTHUMP00000243259;OTTHUMP00000243260;OTTHUMP00000243261;apoptotic protease activating factor 1;apoptotic protease-activating factor 1 APPROVED protein-coding ENSG00000120868 576 03755 602233 REVIEWED 1317656 AP5M1 adaptor-related protein complex 5, mu 1 subunit 14 14 14 q22.3 37785692 37806883 + 56805380 56826545 + 57735606 57756797 + 6480464 18395520;16344560;15489334;15146197;14702039;12477932;11230166;8125298;23665015 55745 E7EQ45;G3V3L4;G3V573;H0YIY0;Q9H0R1 ABBA01018237;ABBA01018238;AF094583;AK001675;AK172824;AK225345;AK303999;AL136685;AL139195;AL355834;AMYH01005752;BC013174;BQ000414;CH471061;CN352262;DB204683;NM_018229;NR_026895 AAC78130;AAH13174;BAA91828;BAD18791;BAG64916;CAB66620;EAW80700;EAW80701;EAW80702;EAW80703;NP_060699;Q9H0R1 Hs.597349 1686366;2141222 RH11331;RH44205 C14orf108;FLJ10813;MUDENG;Mu5;MuD AP-5 complex subunit mu;AP-5 complex subunit mu-1;MHD domain-containing death-inducing protein;MU-2/AP1M2 domain containing, death-inducing;Mu-2 related death-inducing;OTTHUMP00000179018;OTTHUMP00000245791;adapter-related protein complex 5 mu subunit;mu-2-related death-inducing protein;putative HIV-1 infection-related protein APPROVED protein-coding ENSG00000053770 20192 12630 614368 VALIDATED 733396 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q11-q12 27001145 27197807 + 29213840 29410518 + 704404;1580863;6480464 10833507;9890987;19222704;19197363;17989066;15699037;15563604;15345747;14970211;12972431;12780348;12720574;12477932;11083918;11036064;10827173;10777610;10336668;9860131;9822620;9614075;9585438;9395480;9110174;8955346;8889548;8619474;7545337;12196555;15037614;17332754;19615732;19736351;19744962;20015385;20016085;20029827;20379614;22222501;21900206;22832960;23076970 321 H0YL28;H0YMS0;H0YNE8;H0YNG7;Q59G28;Q99767 AB014719;AB209281;ABBA01010382;ABBA01010383;ABBA01010384;AC024474;AC127522;AF029108;AF047348;AK124794;AK310413;AMYH01006499;BC007794;BC082986;BM665057;BX332225;CH471205;NM_001130414;NM_005503;U79255 AAB50203;AAC05306;AAC39767;AAH82986;BAA34734;BAC85951;BAD92518;EAW51516;NP_001123886;NP_005494;Q99767 Hs.618112;Hs.721380 1719847;1724853;1728315;1728925;1792666;1792668;1792670;1792672;1792674;1792676;1792678;1792680;1792682;1792684;1792686;1792688;1792690;2178280;5109281 Apba2;D1S1425;G63439;PMC156605P1;PMC156605P10;PMC156605P11;PMC156605P12;PMC156605P13;PMC156605P2;PMC156605P3;PMC156605P4;PMC156605P5;PMC156605P6;PMC156605P7;PMC156605P8;PMC156605P9;RH119189;RH123618;WI-14097 D15S1518E;HsT16821;LIN-10;MGC99508;MGC:14091;MINT2;X11-BETA;X11L OTTHUMP00000159568;X11-like protein;adapter protein X11beta;amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like);amyloid beta A4 precursor protein-binding family A member 2;mint-2;neuron-specific X11L protein;neuronal munc18-1-interacting protein 2;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000034053 579 04090 602712 REVIEWED 1626268 AP5Z1 adaptor-related protein complex 5, zeta 1 subunit This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011] 7 7 7 p22.2 4774915 4791050 + 4781790 4797925 + 4815262 4834026 + 6480464;7240710 15489334;14702039;12853948;12690205;12477932;9455477;16189514;20613862;12107412;18029348;21903422;21987572;22022230;21963094;21139048;21906983;22505724 9907 O43299 AB007875;ABBA01039430;AC092610;AK092068;AMYH01016990;BC008841;BC014240;BC037399;BI766915;BQ228738;CD671081;CH236953;CH471144;NG_028111;NM_014855 AAH08841;AAH37399;BAA24845;EAL23965;EAW87294;EAW87295;EAW87296;EAW87297;EAW87298;EAW87299;NP_055670;O43299 Hs.558440 2127194 RH48634 KIAA0415;SPG48;zeta AP-5 complex subunit zeta-1;OTTHUMP00000200469;adapter-related protein complex 5 zeta subunit;hypothetical protein LOC9907;protein KIAA0415;zeta5 APPROVED protein-coding 22197 613647;613653 REVIEWED 737449 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008] 19 19 p13.3 3701771 3712673 - 3750771 3761673 - 1580863;6480464 10049767;18544638;17959829;15494376;15489334;15057824;14990567;12477932;11831025;11440799;10574372;9860131;8889548;12196555;20677014;19726677;20016085;21178287;21903422 9546 O96018;Q9UPY9 AB021638;AB023431;AB024411;AB209603;ABBA01002841;AC005954;AF029110;AMYH01009317;BC008338;BC086306;BG938716;BI910038;BM977984;BQ707748;CH471139;NM_004886 AAC17979;AAC72275;AAH86306;BAA74430;BAA83094;BAA83517;BAD92840;EAW69290;EAW69291;NP_004877;O96018 Hs.25527;Hs.465607 1652853;1676486;1698940;2109047;5014003;5015879;5020242 APBA3_8956;D11S2612;D17S1136;GDB:314949;RH103039;RH78751;RH79570 MGC:15815;X11L2;mint3 X11-like 2 protein;adapter protein X11gamma;amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2);amyloid beta A4 precursor protein-binding family A member 3;mint-3;neuron-specific X11L2 protein;neuronal munc18-1-interacting protein 3;phosphotyrosine-binding/-interacting domain (PTB)-bearing protein APPROVED protein-coding ENSG00000011132 580 05038 604262 REVIEWED 1349313 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] 11 11 p15 6372931 6397220 - 6416355 6440644 - 1580863;2301212;2301208;6480464;6907045 9799084;12707777 18468999;8894693;19234442;12843239;18922798;18833287;18800165;18777128;18550529;18480379;17855370;17854420;17686488;17590240;17512906;17368826;16713569;16332686;16223726;15816856;15647266;15489334;15146195;15044485;15037614;14572442;14569203;12888553;12779321;12727304;12653567;12477932;12150997;12089154;11854179;11741599;11606623;11517249;11441186;11436125;11279131;11099823;11095528;11085987;11065130;11029529;10945997;10561691;10075692;9837937;9738440;9685356;20133016;9585438;9461550;9407065;9045663;8955346;8887653;10081969;8855266;11115513;20205790;21145461;16055720;17332754;19343227;19381069;20405578;20568118;20091743;19913121;20628086;16049941;21650223;15592452;21824145;21900206;21968187;21139048;21890473;14699153;15331662;18096514;22199353;22902274 322 B7Z1J6;B7Z2A2;B7Z3G1;B7Z4M9;E9PNW7;J3KPL8;O00213;Q7Z324 ABBA01028667;AC068733;AC084337;AF029233;AF029234;AF047835;AF394214;AK293452;AK293550;AK293554;AK293613;AK293643;AK293711;AK294495;AK295241;AK295425;AK295837;AK297542;AK297544;AK297550;AK308559;AK308782;AK309000;AK309434;AK309445;AK311091;AK311101;AK311141;AK311149;AK311413;AK311725;AK315965;AMYH01003366;BC010854;BG699532;BX538185;CH471064;DC303314;DC316489;DC319935;EF103274;L77864;NG_029615;NM_001164;NM_001257319;NM_001257320;NM_001257321;NM_001257322;NM_001257323;NM_001257324;NM_001257325;NM_001257326;NM_145689;NR_047512 AAB93631;AAC79942;AAH10854;AAL79526;ABL07489;ABM81923;ABM85101;BAH11511;BAH11531;BAH11532;BAH11546;BAH11554;BAH11576;BAH11788;BAH12016;BAH12063;BAH12197;BAH12610;BAH12612;BAH12615;BAH14336;CAD98057;EAW68722;EAW68723;EAW68724;EAW68725;NP_001155;NP_001244248;NP_001244249;NP_001244250;NP_001244251;NP_001244252;NP_001244253;NP_001244254;NP_001244255;NP_663722;O00213 Hs.372840 1728499;1742579;1850059;2152808 A002D29;G63687;GDB:197904;SMPD1 FE65;MGC:9072;RIR OTTHUMP00000229838;OTTHUMP00000229839;OTTHUMP00000230717;adaptor protein FE65a2;amyloid beta A4 precursor protein-binding family B member 1;amyloid beta A4 precursor protein-binding, family B, member 1;stat-like protein APPROVED protein-coding ENSG00000166313 581 04087 602709 REVIEWED 1312445 APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 10 10 10 p12.1 26439007 26568370 + 26767272 26896738 + 26727266 26856732 + 1580863;2300340;6480464 18363565 19098287;17373700;15642358;15489334;15469846;15164054;14530287;12477932;9407065;22566498;8631894;16005629;16385451;16581250;19041431;19952372;20379614;16055720;23045549;21454517;22946047;21890473;22228203 54518 Q7Z5R6;Q8IYL7;Q9NWJ6 AB085852;ABBA01034417;ABBA01034418;ABBA01034419;ABBA01034420;ABBA01034421;AK000812;AK303597;AK308916;AL160287;AL355798;AMYH01002200;AY152730;BC035636;BC054516;BM150270;BM556115;CH471072;NM_019043 AAH35636;AAH54516;AAN75525;BAA91384;BAC41256;BAG64612;EAW86095;EAW86096;EAW86097;EAW86098;EAW86099;NP_061916;Q7Z5R6 Hs.310421 1338804;1770611;1781910;2145615 D10S111;D10S1197;D10S1417;SHGC-106955 INAG1;PREL1;RARP1;RIAM APBB1-interacting protein 1;OTTHUMP00000019344;PREL-1;RARP-1;Rap1-GTP-interacting adaptor molecule;Rap1-interacting adaptor molecule;amyloid beta A4 precursor protein-binding family B member 1-interacting protein;proline rich EVH1 ligand 1;proline-rich EVH1 ligand 1;proline-rich protein 73;rap1-GTP-interacting adapter molecule;retinoic acid-responsive proline-rich protein 1 protein-coding ENSG00000077420 17379 16420 609036 VALIDATED 1342475 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 p13 40510996 40911245 - 40812044 41216635 - 1580863;6480464;7240710 8855266;18852029;17567906;16344560;16083851;15714520;15489334;14527950;12477932;12089154;9585438;8955346;15761153;19542221;20677014;21139048;21890473;20301340;16273093;23000965;23259602 323 B4DJ88;B4E2F2;D6RAE0;D6RAJ4;D6RB00;D6RB55;D6RD19;D6RDY3;D6RGD4;G5E9Y1;H0Y943;H0Y9U9;H0YA92;H0YAJ5;Q92870 ABBA01014258;ABBA01014259;ABBA01014260;ABBA01014261;AC093804;AC096712;AC108937;AC131953;AK024871;AK226179;AK289838;AK295974;AK299800;AK304247;AL080130;AL596608;AL600779;AMYH01014129;AMYH01014130;AMYH01014131;BC027946;BC088372;BM546260;BU184203;BX440903;CF552608;CH471069;CX782504;DA603009;DB236935;DC372060;DC377357;DC377693;DC400218;NG_013337;NM_001166050;NM_001166051;NM_001166052;NM_001166053;NM_001166054;NM_004307;NM_173075 AAH27946;AAH88372;ABM82479;ABM85666;BAF82527;BAG58750;BAG61676;BAG65114;EAW92975;EAW92976;EAW92977;NP_001159522;NP_001159523;NP_001159524;NP_001159525;NP_001159526;NP_004298;NP_775098;Q92870 Hs.479602 1336656;1339155;1645720;1646810;1648722;1650684;1651304;1654493;1660287;1665100;1668510;1696362;1697066;1705066;1712042;1719261;1728435;1735400;1753981;1755275;1764445;1766405;1774623;1775351;1850183;1851416;1853184;2110259;2119153;2134941;2140800;2143722;2150534;2151909;2160926;2162931;2165961;2173525;2174975;2175061;2178924;2183025;5015861;5491459;7185938 1862;APBB2_8203;D10S16;D4S1333;D4S174;D4S2536E;D4S2546E;D4S2573E;D4S2651;D4S2919;D4S303;D4S308;D4S3222;D4S3272;D4S999;G33670;G34298;G41963;G63652;MARC_13889-13890:1007561323:1;RH102013;RH118718;RH123352;SHGC-132009;SHGC-142169;SHGC-148037;SHGC-149747;SHGC-50280;SHGC-51476;SHGC-51743;SHGC-53076;SHGC-53092;SHGC-59600;SHGC-59621;SHGC-59693;SHGC-59844;SHGC-67216;SHGC-67240;SHGC-68079;SHGC-77808;SHGC-78054;STS-N27935;STS-R35307;WI-16758 DKFZp434E033;FE65L;FE65L1;MGC35575 Fe65-like 1;OTTHUMP00000218167;OTTHUMP00000218168;OTTHUMP00000218169;OTTHUMP00000218170;OTTHUMP00000218869;OTTHUMP00000218871;OTTHUMP00000218876;OTTHUMP00000218877;OTTHUMP00000218879;amyloid beta A4 precursor protein-binding family B member 2;protein Fe65-like 1 APPROVED protein-coding ENSG00000163697 582 04088 104300;602710 REVIEWED 733384 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31 136014603 136020939 - 139918037 139924373 - 139937853 139944189 - 6480464 10081969;18029348;15489334;14702039;14527950;12477932;12153398;10329396;20205790;9407065;16169070 10307 D6RBA1;D6RJB2;E7EX91;F5H1N5;O95704;Q59EH2;Q96DX9;Q96Q18;Q9BYD4 AB018247;AB024745;AB049618;AB061224;AB079687;AB094990;AB209839;ABBA01026426;AC005214;AC011399;AF224708;AF224709;AF224710;AF224711;AK074885;AK075280;AK125244;AK304824;AK307170;AMYH01015659;BC013158;BC125187;BF448559;CH471062;CQ783896;NM_006051;NM_133172;NM_133173;NM_133174 AAF65172;AAF65173;AAF65174;AAF65175;AAH13158;AAI25188;BAA35188;BAA78674;BAB40806;BAB71767;BAC22578;BAC56948;BAD93076;BAG52024;BAG52101;BAG54172;BAG65572;CAF86913;EAW62041;EAW62042;EAW62043;EAW62044;EAW62045;EAW62046;EAW62047;EAW62048;EAW62049;EAW62050;NP_006042;NP_573418;NP_573419;NP_573420;O95704 Hs.529449 1740445;2107839;2149648;2153349 A007D18;APBB3_9088;D5S2251E;RH16024 FE65L2;MGC150555;MGC87674;SRA FE65-like protein 2;OTTHUMP00000159886;OTTHUMP00000159887;OTTHUMP00000159888;OTTHUMP00000223852;OTTHUMP00000223853;amyloid beta A4 precursor protein-binding family B member 3;amyloid precursor interacting protein;protein Fe65-like 2 APPROVED protein-coding ENSG00000113108 20708 04089 602711 REVIEWED 6892856 APCDD1L-AS1 APCDD1L antisense RNA 1 (head to head) 20 q13.32 57090435 57194948 + 14702039;20838585 149773 ABBA01005976;ABBA01005977;AI077602;AK054637;AK090612;AK091704;AL050327;AL118513;AMYH01012020;AMYH01012021;NR_034147 Hs.685214;Hs.729646 1784338 SHGC-101667 APPROVED miscrna ENSG00000231290 27152 VALIDATED 1317926 APC2 adenomatosis polyposis coli 2 19 19 19 p13.3 1384145 1407242 + 1401148 1424243 + 1450148 1473243 + 1580863;6480464;6907045 9823329;18157572;12477932;11691822;10644998;10021369;12956947;22513088;17267499;19913121;20628086;10330403;10922056;20237496;20826619;10646860;16510875;10074433;21396940 10297 B5MDS5;K7ELQ3;K7EN62;O95996 AB012162;AB022529;ABBA01002646;AC027307;AF110334;AF110335;AF110337;AF110338;AF128222;AJ012652;AJ131187;AL078616;AMYH01009250;AMYH01009251;BC020381;BC032573;CH471139;NM_005883 AAD28183;AAD29273;AAD29274;AAD29275;AAF01784;AAH32573;BAA34611;BAA75469;CAA10317;CAB61207;EAW69496;EAW69497;EAW69498;NP_005874;O95996 Hs.446376 1688400;1739943;2132089;2154576;2154638;5093566 A009Q48;D2S2123;G32795;RH36570;RH39051;WI-14332 APCL APC-like;adenomatous polyposis coli like;adenomatous polyposis coli protein 2;adenomatous polyposis coli protein-like protein-coding ENSG00000115266 24036 09802 612034 VALIDATED 736624 APC adenomatous polyposis coli This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008] 5 5 q21-q22 112101483 112209835 + 112043202 112181936 + 734579;1331525;1580863;2293188;2317199;2317202;2317200;2317207;2317191;2317198;2317208;2317205;2317206;6480464;6484523;6484525;6484212;6484113;1601201;6907045;7240710;7242056;7242057;7242060;7242059;7242058 1651563;15118671;18432252;15447999;11677205;11891193;7478622;17596282;15467712;1423316;10212000;9369932;17238184;11547943;8090754;17360473;16116480;21599969;10426194;15203750;16959882 20301519;21442240;22294772;19617769;12388762;10773885;11533658;11166179;16188939;8638126;11972058;9601641;11035805;8521819;17570218;17227893;17192415;11283619;14728717;12955080;11955436;12000790;12820959;15327769;16753179;12072559;19694001;21788986;21901162;22073196;22081130;22184111;22262720;18433509;18418860;18406876;18403596;18393246;18393237;18387968;18384130;18375958;18369740;18343606;18337602;18321998;18265644;18224684;18199528;18166348;18160396;18091433;18066497;18063416;18058812;18027849;18026870;17973119;17968317;17964080;17963004;17960617;17954272;17952864;17947477;17920230;17910481;17905526;17882487;17854661;17704924;17665205;17653897;17620292;17572842;17569124;17558858;17556698;17506007;17505512;17489848;17486639;17454753;17418091;17411426;17410430;17368237;17360132;17297457;17255093;17252231;17221838;17189293;17176113;17143620;17143298;17135276;17126424;17119068;17116713;17081983;17080006;17039269;17028196;16981189;16964243;16951153;16855398;16843107;16820884;16804979;16798748;16763565;16710723;16699861;16699180;16680592;16650078;16619216;16569251;16545110;16537703;16525027;16461775;16450383;19606680;19593690;19576224;19571702;19543899;19531215;19527492;19515250;19474113;19470943;19453261;19450512;19378335;19351817;19337631;19309276;19307944;19261806;19196998;19169759;19164452;19124205;19111562;19110823;19064572;19061640;19036155;19035518;19029688;19026650;19013464;18992635;18992263;18987576;18982352;18977219;18955873;18854359;18847451;18844223;18841156;18807072;18774639;18770064;18708403;18676680;18662849;18662704;18632987;18632876;18632657;18632633;18630182;18629513;18617334;18612690;18519734;18498351;18485586;18483325;18477604;18474248;18454178;18451217;16433700;16426911;16423286;16411234;16407829;16382042;16356174;16344560;16322291;16228836;16201232;16184469;16163548;16142311;16088911;16030254;15981102;15959913;15952110;15951963;15943410;15929773;15833136;15832580;15824157;15821699;15768050;15761860;15755874;15754020;15733272;15689459;15640937;15639864;15591320;15561772;15548520;15542524;15540296;15523694;15520370;15507235;15459959;15446460;15375803;15355978;15331612;15326380;15273719;15266213;15257316;15251938;15190067;15133491;15122587;15108288;15040027;15020226;14991743;14961559;14871261;14729851;14691304;14679305;14672538;14662741;14624392;14579148;14578138;14578136;14574158;14573780;14520463;14514668;12907646;12901799;12856637;12800196;12800081;12737446;12655564;12647217;12606575;12584179;12581900;12575848;12538344;12537656;12508668;12504226;12485844;12477932;12439748;12034871;11956815;11933206;11921277;11920497;11912492;11868006;11856748;11809682;11809680;11768390;11768389;11754114;11751382;11748858;11741105;11720476;11707392;11696170;11668620;11606402;11584047;11535846;11487578;11487538;11483640;11470413;11466700;11409872;11389840;11354631;11297546;11241666;11241320;11221825;11159880;11157977;11129339;11076863;11050185;11029657;10982189;10966653;10947987;10926498;10811618;10782927;10749862;10666372;10470088;10188731;9973276;9950360;9811605;9731533;9731522;9724771;9660858;9637688;9419979;9375853;9326658;9286858;9188857;9110174;8990002;8940264;8889548;8638125;8619474;8383094;8259519;8259518;12387883;12378616;12374230;12173321;12173026;12163385;12136240;12124804;12093899;12070164;12057910;12045208;8252630;8111410;7833931;7833149;7744883;7661930;3789010;2797819;1678319;1651562;1338904;1338764;1338691;1310068;10330181;12628243;11712088;11251183;9734785;8074697;7651399;7606712;11585828;15778465;8389242;15572129;15525529;15294866;20696638;22719865;16007220;22434720;22740476;22825279;22077694;22431159;22496417;23291410;20840677;21078161;21315632;19615284;20696900;22761442;22893084;21902576;22277732;22851115;10092233;10656683;10698523;10951583;11136974;11348595;11943150;12952940;15327768;16293619;16329837;16611247;17218255;17222366;17562260;17562262;17588722;17927853;18281465;18486530;18502210;18646694;19170196;19426738;19444466;19448414;19506903;19525225;19527921;19584833;19615732;19625176;19632184;19654215;19672874;19679059;19692168;19701947;19703905;19728755;19768578;19773381;19777185;19793053;19845967;19888426;19889076;19900189;19900451;19912361;19928347;19928349;19928352;19928354;19966865;20007843;20027139;20033212;20056645;20063100;20092957;20149637;20237496;20352275;20437058;20453000;20510605;20513532;7890674;9298899;9482734;20229069;20800603;20844743;20924072;20333795;20935450;20978327;21057000;16199882;16510874;20887112;20936779;9707618;20850014;10330403;20371677;20434453;20473645;20519433;20658693;15342556;19913121;20544848;20570909;20613673;20628086;20696710;19945765;20649969;18070451;16510875;20208994;20971552;22795047;20844082;20978149;16196087;21573497;21737640;21110124;21199875;20564245;21225915;10228155;20685668;19151759;23087084;23277359;21309064;21404461;21311754;15161933;19240029;20360068;21664290;21859464;10074433;23131390;23393221;22741528;22884971;23011394;22987206;22864938;20723290;21279955;21302450;21909382;21865138;22324744;21871439;21598003;16212417;21807601;21207416;21359685;21538028;21904137;21949247;22103048;21665989;21857949;21858148;21900494;21915313;21995949;21484796;21643010;21680534;22000517;22669205;22898821;21139048;21779980;17437043;20128690;22380946;22509309;17110338;22469663;22682247;23382461;23159591;23561487;23326336;15123239;23244118;22372443;23334997;22704062;23159080;22886683;23302090;22787431;22528324;22796397;23055343;21948542 324 B7Z2B6;D6RFL6;E7EMH9;E9PFT7;P25054;Q4LE70;R4GMU6 AB210001;ABBA01069052;ABBA01069053;ABBA01069054;AC008575;AC136500;AF038181;AI492038;AK289567;AK294544;AK309033;AMYH01015547;AMYH01015548;AY682982;AY900441;AY925197;BC034955;BC056268;BE047584;BF112110;BG548363;BM271918;BM713901;BM975470;BP230350;CA313732;DA777787;DA795663;M73548;M74088;NG_008481;NM_000038;NM_001127510;NM_001127511;S56365;S67787;S67788;S78214 AAA03586;AAA60353;AAA60354;AAB21145;AAD13997;AAD13998;AAD14918;AAH56268;AAI11463;AAI11592;AAI11931;AAT81590;AAW82777;AAX07544;BAE06083;BAF82256;BAH11802;NP_000029;NP_001120982;NP_001120983;P25054 Hs.158932 1654104;1667557;1668879;1673300;1675349;1679165;1728927;1735542;1741905;1741907;1743019;1743021;1743845;1743847;1743849;1744219;1744483;1744731;1765631;1771080;1771176;1791708;1791710;1791714;1791716;1791718;2119638;2144728;2152868;2173023;2218230;5092614;5119887 A005A37;APC__4217;Apc;D5S1670E;G32214;GDB:186686;GDB:186687;GDB:186862;GDB:249461;GDB:249465;GDB:374804;GDB:374809;GDB:374815;GDB:437971;GDB:456137;GDB:555538;PMC122454P1;PMC122454P2;PMC122454P4;PMC122454P7;PMC122454P8;RH48628;RH65746;RH66045;RH81025;RH94067;SGC32298;SHGC-149076;SHGC-31463;SHGC-36883;STS-R39438;WI-20484;humapc3 BTPS2;DP2;DP2.5;DP3;GS;PPP1R46 OTTHUMP00000159019;OTTHUMP00000222839;OTTHUMP00000222841;OTTHUMP00000222842;adenomatosis polyposis coli;adenomatosis polyposis coli tumor suppressor;adenomatous polyposis coli protein;deleted in polyposis 2.5;protein phosphatase 1, regulatory subunit 46 APPROVED protein-coding ENSG00000134982 583 01439 114500;114550;135290;175100;611731;613659 REVIEWED 1351282 APCDD1 adenomatosis polyposis coli down-regulated 1 This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010] 18 18 18 p11.22 10337906 10371983 + 10444625 10478694 + 10454625 10488698 + 1580863;6480464;7240710 15498874;15489334;12477932;12384519;20200978;20379614;20393562;21152411;22512811;10878665;21866343 147495 J3KTQ6;J3KTR1;J3QSE3;Q8J025 AB056722;AB104887;ABBA01049968;ABBA01049969;ABBA01049970;AF461902;AK300743;AK303076;AL110199;AMYH01008810;AP001099;BC053324;CH471113;CQ756578;NG_027685;NM_153000 AAH53324;AAQ04816;BAC15563;BAC65165;BAG62412;BAG64192;CAF32599;EAX01585;EAX01586;NP_694545;Q8J025 Hs.293274 1340412;1341022;1656203;1658432;1671498 D18S1376;D18S453;D18S53;D18S986;WI-11680 B7323;DRAPC1;FP7019;HHS;HTS OTTHUMP00000162404;adenomatosis polyposis coli down-regulated 1 protein;hypoptrichosis simplex;protein APCDD1 APPROVED protein-coding ENSG00000154856 15718 09595 605389;607479 REVIEWED 1605849 APCDD1L adenomatosis polyposis coli down-regulated 1-like 20 20 20 q13.32 53774879 53830407 - 56467832 56523355 - 57034426 57089949 - 6480464 16303743;15489334;15465500;14702039;12477932;11780052;20379614;20838585 164284 A2A2P3;F5H6V6;Q8NCL9 ABBA01005977;ABBA01005978;AK074647;AK293299;AL118513;AMYH01012020;BC101758;BC101760;CH471077;CQ782621;NM_153360 AAI01759;AAI01761;BAC11111;BAG56820;CAF85886;EAW75491;EAW75492;NP_699191;Q8NCL9 Hs.119286 1340914;1644481;1688594 D20S164;RH47951;RH75624 FLJ90166;MGC126807;MGC126809;RP4-685L9.2 OTTHUMP00000031398;adenomatosis polyposis coli down-regulated 1 protein-like;protein APCDD1-like protein-coding ENSG00000198768 26892 08294 PROVISIONAL 68444 APCS amyloid P component, serum The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] 1 1 q21-q23 157824240 157825285 + 159557616 159558661 + 1300286;1580863;6480464 12015594 11441067;11359830;10631319;9217261;8999915;8662978;8417122;8202534;8144569;8114934;7592941;4055725;3915434;3759147;3211159;3172210;3029048;1602151;1477104;81686;11984001;10812074;2987268;10972085;14718574;19052452;19011614;18174230;17676666;17630380;17530641;17138933;16784490;16710414;16643876;16380821;16335952;15837583;15649951;15489334;15174148;15031287;14607961;14519527;14500533;12767937;12528126;12477932;12432394;12126626;12100475;19948975;20237496;20189569;20300636;21044893;21360619;20930309;21278351;20932823;21106539;21223953;22493081;23390551;22205573;22867744;22396542;18624398;21900206;21988832;22939635;23527487 325 P02743 ABBA01016619;AL445528;AMYH01001445;BC007039;BC007058;BC070178;BT006750;CH471121;CR450313;D00097;HC250941;HC311130;M10944;NM_001639;X04608 AAA60302;AAH07039;AAH07058;AAH70178;AAP35396;BAA00060;CAA28275;CAG29309;CBJ05768;CBJ21220;EAW52781;NP_001630;P02743 Hs.507080 1649553;1666462;1669000;1683864;2107841 APCS_8204;D1S2412;D1S3199;RH11639;RH93185 MGC88159;PTX2;SAP 9.5S alpha-1-glycoprotein;OTTHUMP00000024355;pentaxin-related;serum amyloid P-component APPROVED protein-coding ENSG00000132703 584 00101 104770 REVIEWED 2302585 API5P1 API5 pseudogene 1 X X X q24 115898909 115903038 + 115151434 115153741 - 115235619 115239750 - 6480464 10393420 642812 AL732602;AMYH01022870;NG_009200 1671808 RH65627 API5L1 APPROVED pseudo 595 INFERRED 1350631 APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X X p11.21 58861923 58869355 + 55043505 55050937 + 55026780 55034212 + 1580863;6480464;6907045 19443450;19165527;16687656;16189514;15772651;15489334;12477932;11866537;11376153;20843780;12650714;20522537;21832049;22939629;19953087;21139048;21890473;15342556;16341674;22505724 27301 B4DWI9;B7ZA71;E5KN95;Q9UBZ4 AB021260;AB049211;ABBA01069569;AF119046;AJ011311;AK301555;AK316186;AL020991;AMYH01022432;AY884244;BC002959;BI837686;BM795632;BP363514;CH471154;HQ205186;HQ205187;HQ205188;HQ205189;HQ205190;HQ205191;HQ205192;HQ205193;HQ205194;HQ205195;HQ205196;HQ205197;HQ205198;HQ205199;HQ205200;HQ205201;HQ205202;HQ205204;HQ205205;HQ205206;HQ205207;HQ205208;HQ205209;HQ205210;HQ205211;HQ205212;HQ205213;HQ205214;HQ205215;HQ205216;HQ205217;HQ205218;HQ205219;HQ205221;HQ205222;HQ205223;HQ205224;HQ205225;NG_012568;NM_001271748;NM_014481 AAD43041;AAH02959;AAW56941;ABM84595;ABM86482;ADP90654;ADP90655;ADP90656;ADP90657;ADP90658;ADP90659;ADP90660;ADP90661;ADP90662;ADP90663;ADP90664;ADP90665;ADP90666;ADP90667;ADP90668;ADP90669;ADP90670;ADP90672;ADP90673;ADP90674;ADP90675;ADP90676;ADP90677;ADP90678;ADP90679;ADP90680;ADP90681;ADP90682;ADP90683;ADP90684;ADP90685;ADP90686;ADP90687;ADP90689;ADP90690;ADP90691;ADP90692;ADP90693;BAA78422;BAB13764;BAG63051;BAH14557;CAB45242;EAW93208;EAW93209;EAW93210;NP_001258677;NP_055296;Q9UBZ4 Hs.659558 1795364;2191735 APEX2_705;MARC_5951-5952:997299472:1 APE2;APEXL2;XTH2 AP endonuclease 2;AP endonuclease XTH2;APEX nuclease 2;APEX nuclease-like 2;DNA-(apurinic or apyrimidinic site) lyase 2;DNA-apurinic or apyrimidinic site lyase 2;OTTHUMP00000023390;apurinic-apyrimidinic endonuclease 2;apurinic/apyrimidinic endonuclease-like 2 APPROVED protein-coding 17889 06442 300773 REVIEWED 4144507 API5P2 API5 pseudogene 2 2 2 2 q31.2 172462384 172466442 - 178569908 178571743 - 178859544 178863604 - 728664 ABBA01062241;AC011998;AMYH01011304;NG_009199;NG_012168 1702552 GDB:451846 pseudo 39070 INFERRED 735668 APEH acylaminoacyl-peptide hydrolase This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008] 3 3 p21.31 49686439 49695938 + 49711435 49720934 + 1580863;6480464 2006156;16189514;15862967;15489334;12477932;12000146;11921441;10719179;10407158;10395453;8724851;8411161;2565880;2392324;1861871;1740429;1521574;16169070;20307617;18029348;20529763;21297633;22863883;22939629;22505724;18781797;21139048;21890473;21906983;21931648;21987572;21963094;23000965 327 C9JIF9;C9JLK2;F8WBC4;F8WEH5;H0YFE5;H7C1U0;H7C273;H7C393;P13798 ABBA01024577;AC099668;AF141383;AK314962;AMYH01013162;BC000362;BC001499;BC001826;CH471055;D38441;NG_011438;NM_001640 AAF37321;AAH00362;AAH01499;AAH01826;ABM82344;ABM85518;BAA07476;EAW64994;EAW64995;EAW64996;EAW64997;EAW64998;NP_001631;P13798 Hs.517969 1648120;1741429;1744543;1790319 APEH;GDB:181206;GDB:512856;WI-16108 AARE;ACPH;APH;D3F15S2;D3S48E;DNF15S2;MGC2178;OPH AARE;OTTHUMP00000210907;OTTHUMP00000210908;acyl-peptide hydrolase;acylamino-acid-releasing enzyme;acylaminoacyl-peptidase;oxidized protein hydrolase APPROVED protein-coding ENSG00000164062 586 00034 102645 REVIEWED 1606343 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008] 14 14 q11.2 19993130 19995766 + 20923290 20925931 + 2315676;2315657;2315665;2315666;2315662;2315686;2315670;2315671;2315672;2315673;2315675;2315878;2315663;2315667;2315656;2315660;2315661;2302852;1599366;2315691;6480464;6484113;6907045 15344903;19292061;16406883;11309329;18503157;9030714;18637713;18373555;17602955;17280489;15887293;11465542;17974506;11748448;19787261;19041121;18701435;15854596;11852039;19202550 18263880;18208837;18206643;18179823;18091433;18061304;18053222;18042731;18025089;17991492;17984110;17949784;17938202;17922186;17898541;17855454;17685223;17630376;17614107;17599408;17567611;17567600;17555083;17531525;17515960;17479230;17403694;17374727;17355977;17332344;17324338;17283177;17272283;17230526;17222938;17218168;17203305;17197435;17177211;17126083;17040931;17034901;17028303;16982113;16973282;16966185;16962936;16956909;16889694;16844323;16621887;16609022;16554306;16537925;16492928;16481390;16481227;16356936;16284386;16221808;16195237;16147991;16000577;15942031;15878096;15831793;15824742;15824325;15816625;15746160;15731342;15706084;15694346;15674341;15644200;15635413;15592455;15489334;16425270;15472121;15459284;15380100;15362040;15333465;15316562;15247342;15210853;15113441;15107486;15084314;15044328;14767913;14730972;14704345;11286553;9119221;1722334;12524539;15518571;7961715;10805771;1380454;18029348;9207062;10559261;11250913;19528510;19449863;19414392;19393248;19369898;19367277;19339270;19242824;19237606;19219073;19188445;19188437;19181704;19147860;19124501;19124499;19116388;19097035;19074850;19073198;19064572;19052983;19038866;19029194;18990748;18983843;18971960;18958420;18946634;18830263;18823566;18809583;18805789;18779313;18776186;18712175;18676680;18672023;18669164;18627350;18627000;18515104;18505345;18482781;18478337;18466396;18439621;18436236;18393760;18357393;18353858;18324520;14643949;14633989;14630715;14625810;14599768;14594818;14581338;14521941;12966083;12933815;12860125;12857737;12842873;12628186;12624104;12569263;12555094;12547389;12519758;12480540;12477932;12384995;12242029;12237116;12231548;12230304;12200445;12161506;12110916;12058277;11895912;11866537;11846302;11809897;11707423;11705870;11601988;11452037;11182545;11133992;11118054;11096142;11092888;11084372;11073998;10946230;10667800;10629618;10594042;10585464;10023679;9870152;9361024;9351835;9110174;9108029;8942627;8932375;8621488;8619474;8086453;1719477;1627644;1383925;1380694;1371347;1284593;21451252;22580151;21479902;22652909;20498636;11478795;16978929;19170196;19324449;19351502;19376732;19460860;19470598;19484131;19492297;19524065;19536092;19541747;19592152;19625176;19631633;19692168;19711438;19762350;19782121;19789190;19846872;19896490;19902366;20010699;20032196;20061190;20087352;20133634;20150366;20218738;20218899;20223788;20226869;20231292;20232390;20332233;20354815;20377204;20391347;20403997;20453000;20496165;20522537;20530453;20540786;19643912;20856196;17148573;19934257;20808930;19764832;11832948;19401441;20493910;20534262;20919954;9560228;20606276;20955519;20574454;20601096;20634891;20644561;20720310;20817763;20577654;20699270;20211142;20679741;20731661;20852942;21037106;21030352;20929586;21429202;22863883;21323960;16712791;20633698;21615620;23074184;21832049;22939629;23038158;21132382;21912662;22205985;22243137;18781797;21865600;21987080;21561390;21722819;21198260;22174317;23418439;23544830;22371940;22493391;21467074;21756546;21420246;21538578;21727086;21778470;21900206;22024594;21139048;21769563;21906983;22148505;21110914;22362780;22193858;19805454;23065211;23094050;23110144;23505922;19471022;21935361;22176746;20696907;21044950;22384055;21933813;22306120;22329793;22379092;19505873;22224629;17008916;18850631;23581410;23272074;23485469;23143180;23355472;15735682;22918947;22713458;23479135;23382073 328 G3V2D9;G3V359;G3V3C7;G3V3M6;G3V3Y6;G3V574;G3V5D9;G3V5M0;G3V5Q1;H7C4A8;P27695;Q5TZP7 ABBA01061230;AF488551;AI554786;AK098588;AK291100;AL355075;AMYH01005588;BC002338;BC004979;BC008145;BC019291;BC095428;BT007236;BT020133;BX161454;CB139337;CH471078;D13370;D90373;M80261;M81955;M92444;M99703;NG_008718;NM_001244249;NM_001641;NM_080648;NM_080649;S43127;U79268;X59764;X66133 AAA58371;AAA58372;AAA58373;AAA58629;AAB22977;AAB50212;AAH02338;AAH04979;AAH08145;AAH19291;AAH95428;AAL86909;AAP35900;AAV38935;ABM82740;ABM85924;BAA02633;BAA14381;BAF83789;CAA42437;CAA46925;CAD61917;EAW66463;EAW66464;EAW66465;EAW66466;EAW66467;EAW66468;NP_001231178;NP_001632;NP_542379;NP_542380;P27695 Hs.73722 1744369;1797290;2113864;2170932;2174947;2186296 APEX;APEX1_1488.2;D2S2636;GDB:451907;SHGC-36712;WI-18729 APE;APE1;APEN;APEX;APX;HAP1;REF1 AP endonuclease 1;AP endonuclease class I;AP lyase;DNA-(apurinic or apyrimidinic site) lyase;OTTHUMP00000163988;OTTHUMP00000163989;OTTHUMP00000244791;OTTHUMP00000244792;OTTHUMP00000244793;OTTHUMP00000244795;OTTHUMP00000244796;OTTHUMP00000244798;OTTHUMP00000244800;OTTHUMP00000244801;apurinic-apyrimidinic endonuclease 1;apurinic/apyrimidinic (abasic) endonuclease;apurinic/apyrimidinic exonuclease;deoxyribonuclease (apurinic or apyrimidinic);multifunctional DNA repair enzyme;protein REF-1;redox factor 1;redox factor-1 APPROVED protein-coding ENSG00000100823 587 00136 107748 REVIEWED 5013857 APITD1-CORT APITD1-CORT readthrough This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011] 1 p 10490159 10512060 + 11181995;15328517;20967262;8889548 100526739 Q8N2Z9;R4GMN7 AA858169;ABBA01035603;AF516753;AF521016;AL139424;AL354956;AMYH01000246;CF127457;CF128105;CH471130;HY054077;NM_001243768;NM_001270517;NM_198544;NM_199006;NR_037187 AAM61954;AAM70482;CAI19200;CAI19201;EAW71649;EAW71651;EAW71653;NP_001230697;NP_001257446;NP_940946;NP_950171 Hs.412311 KIAA0591 APITD1-CORT protein;APITD1-CORT read-through;OTTHUMP00000065120;OTTHUMP00000222023 APPROVED protein-coding ENSG00000175279;ENSG00000251503 38843 REVIEWED 1349695 APH1A APH1A gamma secretase subunit This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011] 1 1 p36.13-q31.3 148504423 148508156 - 150237799 150241609 - 2302204;6480464;6484113;6907045 17761886 12297508;15274632;19369254;19368855;19028695;18801744;17059559;16757808;16344560;16303743;15629423;15489334;15322084;15286082;15210705;14702039;14627705;14593096;12975309;12972157;12917438;12740439;12679784;12522139;12477932;12471034;12110170;10810093;14572442;15257293;12857757;12763021;15322109;21123562;20674680;12787561;12843241;15721744;16630834;16641999;17986144;20145246;20299451;20379614;17207965;21443683;15474363;19322201;23291095;21890473;21988832;23253155 51107 B4DUG7;Q5TB21;Q96BI3 ABBA01049330;AC242988;AF151835;AF508787;AK027879;AK075295;AK075452;AK125685;AK297680;AK298832;AK298876;AK300640;AK307358;AK314490;AL138795;AMYH01001373;AX775955;AX775957;AY113698;AY113699;AY358951;BC001230;BC008732;BC009501;BC015568;BC017699;BC020590;BC068606;BI760743;CH471121;CQ783433;DA589586;DC365601;NG_029952;NM_001077628;NM_001243771;NM_001243772;NM_016022;NR_045033;NR_045034;NR_045035 AAD34072;AAH01230;AAH08732;AAH09501;AAH15568;AAH17699;AAH20590;AAM61955;AAM61956;AAN63816;AAQ89310;ADQ31632;ADZ15886;ADZ16087;BAC11529;BAG51389;BAG52142;BAG60040;BAG60962;BAG60993;BAG62329;CAE11677;CAE11678;CAF86638;CAI22811;CAI22812;CAI22813;EAW53565;EAW53566;EAW53567;NP_001071096;NP_001230700;NP_001230701;NP_057106;Q96BI3 Hs.108408;Hs.735911 1652765;1655085;1671882;2150844;2218232;5491270 A004F41;APH-1A__4340;D13S1659;MARC_7139-7140:992008251:1;SGC31751;SHGC-32182 6530402N02Rik;APH-1;APH-1A;CGI-78 OTTHUMP00000014528;OTTHUMP00000014529;OTTHUMP00000037716;anterior pharynx defective 1 homolog A;aph-1alpha;gamma-secretase subunit APH-1A;presenilin-stabilization factor APPROVED protein-coding ENSG00000117362 29509 607629 REVIEWED 1344589 APH1B anterior pharynx defective 1 homolog B (C. elegans) This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011] 15 15 q22.2 61356844 61385166 + 63569749 63601325 + 2302204;6480464;6484113 17761886 12297508;11256614;18987747;17466415;16757808;16381901;16344560;15823552;15629423;15591316;15489336;15489334;15286082;14702039;12975309;12763021;12740439;12477932;12471034;12110170;11230166;11076863;12787561;12843241;12857757;15721744;16630834;17986144;19774691;15474363;21890473;21906983 83464 H0YKZ9;H0YLT0;H0YM95;Q4R1J8;Q8WW43 AA808355;AB189172;AB197122;ABBA01038913;AC016207;AF508794;AI693802;AK057677;AK291204;AK307456;AK307725;AK310843;AL136671;AMYH01006702;AY358698;BC020905;BI825203;CH471082;DA397427;NM_001145646;NM_031301 AAH20905;AAN63817;AAQ89061;ABM82327;BAD95573;BAE02660;BAF83893;CAB66606;CAL37602;CAL37756;EAW77644;EAW77645;NP_001139118;NP_112591;Q8WW43 Hs.511703 1664853;1715165;1736534;1779062;2180977 A007E02;D15S734E;RH119833;STS-N31710;WI-10749 APH-1B;DKFZp564D0372;FLJ33115;PRO1328;PSFL;TAAV688 OTTHUMP00000163761;anterior pharynx defective 1B-like;aph-1beta;gamma-secretase subunit APH-1B;presenilin stabilization factor-like;presenilin-stabilization factor-like APPROVED protein-coding ENSG00000138613 24080 06361 607630 VALIDATED 1320288 API5 apoptosis inhibitor 5 This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 p11.2 43290109 43322655 + 43333505 43366080 + 1643340;6480464 10780674 11075807;9307294;11555636;19387494;18319255;17112319;17081983;16344560;16083285;15635413;15489334;12703993;12477932;10393420;14702039;21145461;22334682;19821157;19734545;18029348;19661379;20671611;22863883;22939629;21139048;21890473;22145905;19322201;21110914 8539 B4DDR3;B4E283;E9PQK6;G3V1C3;H0YER7;Q9BZZ5 ABBA01060781;AC087276;AF229253;AF229254;AK021649;AK293303;AK294724;AK299288;AK304157;AMYH01003518;AY265973;AY311389;BC015898;BC017709;BF115210;BM193468;BT007093;CH471064;CK904611;DA104687;DC334531;NG_029841;NM_001142930;NM_001142931;NM_001243747;NM_006595;NR_024625;U83857;Y15906 AAB86528;AAH17709;AAK00737;AAK00738;AAO89077;AAP35756;AAQ76714;ABM81597;ABM84778;BAG56824;BAG57871;BAG61304;BAG65045;CAA75867;EAW68098;EAW68099;NP_001136402;NP_001136403;NP_001230676;NP_006586;Q9BZZ5 Hs.435771 1671808;1702552;1748667;5016963;5023279;5124005 GDB:451846;RH11873;RH36898;RH65627;RH69526;SHGC-110333 AAC-11;AAC11;FLJ11587 API-5;FIF;OTTHUMP00000232785;OTTHUMP00000232786;OTTHUMP00000232787;OTTHUMP00000232791;OTTHUMP00000232792;antiapoptosis clone 11 protein;apoptosis inhibitor 5;cell migration-inducing gene 8 protein;fibroblast growth factor 2-interacting factor 2;migration-inducing protein MIG8 APPROVED protein-coding ENSG00000166181 594 16500 609774 REVIEWED 1602808 APITD1 apoptosis-inducing, TAF9-like domain 1 This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010] 1 1 p36.22 10412746 10434797 + 10490159 10502872 + 6480464 17962439;16622420;16622419;15328517;12477932;11329013;8889548;22510687;19620631;20347429;19913121;20628086;15740626;17207965;21832049;21890473;22705371 378708 K7ESB0;Q8N2Z9 ABBA01035603;AL354956;AMYH01000246;BC029430;BE858209;BG213105;BG546364;BM905996;BU902753;CA311915;CH471130;NM_199294;NR_036462 AAH29430;ADQ32275;CAI19199;EAW71654;NP_954988;Q8N2Z9 Hs.412311 2218416 CORT_4621 CENP-S;CENPS;FAAP16;MGC32686;MHF1 FANCM-interacting histone fold protein 1;Fanconi anemia-associated polypeptide of 16 kDa;OTTHUMP00000065118;OTTHUMP00000065120;OTTHUMP00000222023;apoptosis-inducing TAF9-like domain-containing protein 1;centromere protein S APPROVED protein-coding 23163 609130 REVIEWED 1603043 APIP APAF1 interacting protein APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008] 11 11 11 p13 35051185 35085276 - 34860421 34894484 - 34903842 34937939 - 6480464;6907045 16189514;16344560;15489334;15262985;12477932;10810093;8125298;17207965;20800603;19060904;21602797;22837397;21139048;19322201;23285211;22407486;21382349;23144326;23192037 51074 J3KN82;Q96GX9 ABBA01060863;AC107928;AF088034;AF132963;AK225249;AK226157;AK292648;AK302225;AMYH01003489;BC008440;BC009077;BC017594;CH471064;DA729016;NM_015957 AAD27738;AAH08440;AAH09077;AAH17594;ADQ32639;BAF85337;BAG63579;EAW68161;NP_057041;Q96GX9 Hs.447794 1659304;1707728;5015961;5022322;5109281 D11S2560;D15S1477;D1S1425;SHGC-82079;WI-20739 APIP2;CGI-29;CGI29;MMRP19;dJ179L10.2;hAPIP APAF1-interacting protein;MTRu-1-P dehydratase;OTTHUMP00000232946;methylthioribulose-1-phosphate dehydratase;probable methylthioribulose-1-phosphate dehydratase APPROVED protein-coding ENSG00000149089 17581 14725 612491 VALIDATED 1344091 APLF aprataxin and PNKP like factor C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008] 2 2 p13.3 68548246 68660798 + 68694691 68807294 + 6480464 17353262;19155274;18474613;18172500;18077224;17507382;17396150;16344560;15815621;15489334;14702039;12477932;20098424;19661379;21211721;21211722;21414327;21832049;21885877;22190364;23178593 200558 E9PRH6;F8WET0;Q8IW19 ABBA01075486;ABBA01075487;ABBA01075488;ABBA01075489;ABBA01075490;AC105054;AC127383;AC130709;AK290841;AK308186;AMYH01010419;BC030711;BC041144;CH471053;DA641644;NM_173545 AAH41144;AAY14945;AAY24008;AAY24113;BAF83530;EAW99871;EAW99872;NP_775816;Q8IW19 Hs.720369 1668923;2182731 D2S2874;RH17523 APFL;C2orf13;FLJ16593;MGC47799;PALF;Xip1 OTTHUMP00000159966;PNK and APTX-like FHA domain-containing protein;PNK and APTX-like FHA protein;XRCC1-interacting protein 1;aprataxin and PNK-like factor;aprataxin- and PNK-like factor;apurinic-apyrimidinic endonuclease APLF APPROVED protein-coding ENSG00000169621 28724 09848 611035 VALIDATED 1351986 APLN apelin This gene encodes a peptide that functions as an endogenous ligand for the G protein coupled receptor APJ. The encoded protein is synthesized as a prepropeptide that is processed into biologically active C-terminal fragments. The peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1.[provided by RefSeq, Feb 2010] X X q25 128607006 128616595 - 128779236 128788933 - 632245;632246;1304466;1580863;1626175;1626176;1626170;1626174;1626186;1626173;1626171;1600932;1626177;2313938;2313942;2313944;6480464 9792798;10525157;14645236;16263185;15664402;17594060;16278229;17119870;16674982;17055480;15970339;17391779;19756893;19015606;18484561 22285858;17128405;17060400;17177135;16723381;16563531;16115460;15772651;15677759;15664671;15489334;15231996;14702039;12975309;12963638;12914775;12798955;12603839;12477932;11090199;10617103;11040134;19307984;19123778;19100414;18845302;18816630;18772060;18617693;18401529;18272843;17906101;17826642;17823846;17412318;20580037;20662349;18240029;18505110;19344973;19527631;19567136;19597036;19643928;19766342;19804703;19926159;19940213;20045153;20055692;20099713;20224560;20485192;20220056;20610231;18577758;20843995;20675385;20943064;20581707;20669343;20676956;21158215;20382684;19913121;20504125;20628086;20495838;20813143;21412239;21358603;21233449;20864562;22895257;22533552;21575945;21264801;22995518;21775567;21821917;21609753;23437347;21448846;21521329;21631898;20652246;21864607;22007137;23226564;23227256;23316219;22360921;22200678;22209991;22037214;22203468;22611158;23227848;23296045;23515451;22780711;19060904;22676366;22944040;22699819;22927708 8862 B2R550;Q9ULZ1 AB023493;ABBA01047827;AF086248;AF179680;AK001855;AK312061;AL022162;AMYH01022963;AY358657;BC021104;BM992527;CH471107;DB481574;NG_016718;NM_017413 AAF25815;AAH21104;AAQ89020;ABM83051;ABM86244;BAA84975;BAG34997;EAX11828;EAX11829;NP_059109;Q9ULZ1 Hs.303084 1689851;2114763;2217018 APLN_3269;RH18197;RH91453 APEL;XNPEP2 AGTRL1 ligand;APJ endogenous ligand;apelin APPROVED protein-coding ENSG00000171388 16665 02246 300297 REVIEWED 736696 APLP1 amyloid beta (A4) precursor-like protein 1 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 q13.1 41051241 41062539 + 36359401 36370699 + 734581;1580863;6480464 8432545 16193067;9521588;19401174;19126676;18430897;17709753;16531006;16344553;16169070;15489334;15208260;15146195;14970212;14702039;14699153;14597230;14563850;21952790;15383276;12779321;12477932;12228233;12135352;10578233;10460257;9890987;9729270;9428684;8894693;7929392;7494461;10081969;11247302;14983046;18272596;20049724;21574595;17620599;22178872;21178287;21900206 333 B7Z4G8;F5GZ08;K7ELK0;K7EMN4;K7EMS1;K7EQJ4;P51693 ABBA01018771;ABBA01018772;AD000864;AK092376;AK126907;AK297339;AK297640;AK312292;AMYH01009735;BC012889;BC013850;BC032983;BQ219233;EF036503;NM_001024807;NM_005166;U48437 AAB50173;AAB96331;AAH12889;ABM82267;ABM85449;ABO65089;BAG35219;BAH12554;BAH12638;NP_001019978;NP_005157;P51693 Hs.74565 1654648;1730237;2111113;2160136;2174267;5015861;5020242;5020948;5022651;5037552;7185938;7187020 D10S16;D11S2612;D11S2921;D19S237E;D1S357E;D8S2279;G35510;HSC0VF102;RH66352;SHGC-4198 APLP APLP-1;amyloid precursor-like protein 1;amyloid-like protein 1 APPROVED protein-coding ENSG00000105290 597 00102 104775 REVIEWED 733537 APLNR apelin receptor This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009] 11 11 q12 56757643 56761489 - 57001051 57004927 - 1580863;1304466;2313945;6480464 14645236;17692936 8294032;9792798;19307984;19123778;19069168;18401529;17826642;17412318;17309882;17128405;16303743;15664671;15489334;15087458;14702039;14675627;14622440;12667811;12603839;12477932;11250876;11004481;10737800;8971794;8889548;11040134;9736741;9653051;20220056;18240029;19527631;19680269;19926159;20055692;20099713;20224560;20353754;18577758;20125035;20485192;20675385;21233449;23438363;21450694;22995518;22112232;21412239;23226564;22109355;22037214;22611158;20921899;22842622 187 B2RDH3;B3KQN4;P35414 ABBA01021468;AK074514;AK075252;AK097232;AK315542;AL548962;AL553350;AMYH01003651;AP001786;BC032688;BI004477;BM698661;BX439288;CH471076;NM_005161;NR_027991;U03642;X89271 AAA18954;AAH32688;ABM81770;ABW03307;BAC11032;BAG37920;BAG52096;BAG53437;CAA61546;EAW73730;NP_005152;P35414 Hs.438311 1651306;1732784;1754009;1772585;1791432;2113962;2151727 A004D04;AGTRL1;D11S1946E;D11S4599;PMC110125P1;RH70528;SHGC-132053 AGTRL1;APJ;APJR;FLJ90771;FLJ96609;HG11;MGC45246 APJ (apelin) receptor;APJ receptor;G protein-coupled receptor APJ;G-protein coupled receptor APJ;G-protein coupled receptor HG11;HG11 orphan receptor;angiotensin II receptor-like 1;angiotensin receptor-like 1;apelin receptor APPROVED protein-coding 339 02503 600052 REVIEWED 1312295 APOA1BP apolipoprotein A-I binding protein The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008] 1 1 1 q21 129632348 129634881 + 154828182 154830715 + 156561558 156564091 + 6480464 11991719;17533573;17521614;12477932;20634891;20855565;20877624;22360420;20000738;21900206;21139048;21890473;23719382 128240 Q5T3I3;Q5T3I4;Q8NCW5 ABBA01016653;AJ315849;AK294835;AK298222;AL365181;AMYH01001437;BC056917;BC100931;BC100932;BC100933;BC100934;BG723681;BQ430064;CH471121;NM_144772 AAH56917;AAI00932;AAI00933;AAI00934;AAI00935;BAG57944;BAG60492;CAC86580;EAW52941;EAW52942;EAW52943;NP_658985;Q8NCW5 Hs.528320 1666869;1677172;1722569;1730245;2140887;2184095 D5S449E;G60215;RH15878;RH83;WI-13531;WIAF-2182 AIBP;MGC119143;MGC119144;MGC119145;YJEFN1 AI-BP;NAD(P)H-hydrate epimerase;NAD(P)HX epimerase;OTTHUMP00000031989;OTTHUMP00000031990;OTTHUMP00000031991;apoA-I binding protein;apolipoprotein A-I-binding protein;yjeF N-terminal domain-containing protein 1;yjeF_N1 APPROVED protein-coding ENSG00000163382 18453 16397 608862 REVIEWED 731852 APLP2 amyloid beta (A4) precursor-like protein 2 This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 q24 129445011 129519910 + 129939716 130014706 + 1580863;734582;6480464 8086458 7702756;16193067;8220435;8485127;19126676;18641335;18452037;17452623;17405931;16645641;16279945;15584916;15489334;15208260;15146195;14970212;14702039;14699153;14597230;12595709;12499552;12477932;12372026;12228233;11443060;10702673;10490823;10460257;10081969;9556595;9109675;8894693;8855266;8125298;8020984;7929392;7539437;19019082;11247302;15778465;11746496;9461550;21952790;14983046;17709753;19184004;19808674;20379614;20936779;20732423;17371289;21178287;21459473;21522131;16622416;21875946;21695060;21081666;21826533;21139048;21890473;21906983;21987572;22641691;19322201;21103663;23430252;15231748;20195357;21963094;21988832;23000965 334 B4E3I5;E9PK76;E9PPD0;E9PQS3;E9PSC7;F5GZY0;F5H845;Q9BT36;Q9UED0 AB015751;ABBA01023029;ABBA01023030;AF168956;AK056883;AK122834;AK124457;AK128162;AK225283;AK296765;AK300378;AK304736;AK308248;AK308932;AMYH01004127;AMYH01004128;AP001183;AP003041;BC000373;BC004371;BM992563;BX647107;CH471065;DC336210;L09209;L19597;L23113;L23114;L27631;NG_029770;NM_001142276;NM_001142277;NM_001142278;NM_001243299;NM_001642;NR_024515;NR_024516;S60099;Z22572 AAA35526;AAA35601;AAA36032;AAA36130;AAC41701;AAC60589;AAD47291;AAH00373;AAH04371;ABW03428;ABW03750;BAA34958;BAG54641;BAG59345;BAG62113;BAG65497;CAA80295;EAW67768;EAW67769;EAW67770;EAW67771;EAW67772;EAW67773;EAW67774;NP_001135748;NP_001135749;NP_001135750;NP_001230228;NP_001633;Q06481 Hs.370247 1682559;1732782;1767910;1774254;1782384;2164644;2175794;2181926;5014051;5037552 D11S1945E;D11S3981;D8S2278;D8S2279;RH11795;RH27778;SGC44685;SHGC-153998;SHGC-30035;SHGC-52431 APLP-2;APPH;APPL2;CDEBP CDEI box-binding protein;OTTHUMP00000230926;OTTHUMP00000230927;OTTHUMP00000230928;OTTHUMP00000230929;OTTHUMP00000230930;amyloid precursor protein homolog HSD-2;amyloid protein homolog;amyloid-like protein 2 APPROVED protein-coding ENSG00000084234 598 00103 104776 REVIEWED 1318897 APMAP adipocyte plasma membrane associated protein 20 20 20 p11.2 25017384 25047231 - 24891580 24921425 - 24943580 24973425 - 6480464 18513186;17207965;16335952;15489334;14702039;12975309;12754519;12477932;11780052;10945474;8889548;16169070;11583587;20552250;21139048;21890473;21906983;22267596;22797925 57136 H0Y512;Q9HDC9 AB033767;ABBA01048732;AK025834;AK026866;AK291129;AK301959;AL035661;AMYH01011788;AY359076;BC003501;BG773501;CF131759;CH471133;NM_020531 AAH03501;AAQ89435;ADQ31753;BAB11885;BAB15253;BAB15578;BAF83818;BAG63373;EAX10113;EAX10114;NP_065392;Q9HDC9 Hs.472330 1682672;1683337;1685437;1687373;1688271;1688382;1689223;1712066;1735010;1774757;2120624 A002G20;Bda02b03;D20S566E;G54080;IB2318;RH1693;RH39021;RH39025;RH45409;RH71149;RH76356 BSCv;C20orf3 OTTHUMP00000030464;OTTHUMP00000164236;adipocyte plasma membrane-associated protein;protein BSCv APPROVED protein-coding ENSG00000101474 13238 09840 VALIDATED 735962 APOA1 apolipoprotein A-I This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. [provided by RefSeq, Jul 2008] 11 11 q23-q24 116211679 116213548 - 116706469 116708338 - 1578410;1599158;1599161;1600654;1331525;1601185;1601187;1601183;1601186;1601188;1580863;1578416;734583;1601184;1578442;2313959;2313960;2313961;2313962;2325756;2325757;2325758;2325759;2325183;5128563;5508213;5508214;5508218;5508219;5508212;5508215;5508216;5508222;5508220;5508221;6480464;6484113;6907045;7240710;7241209;7241214;7241571;7241572;7241573;7241574;7241575;7241576;7241577;7241852;7241863;7241864;2313652;7241867;7241868;7241869;7241855;7241207;7241208 3142462;1466661;2123716;16258026;15118671;12725089;7910586;17217166;9699897;2128269;16011471;9931341;16309370;10428310;9933608;9829487;9649952;9578960;19486127;17332923;17312459;20176799;19399409;20580919;20739292;21726101;19863188;17517342;20847045;20350318;20085559;20463180;21410987;20639628;21730889;21496341;20488818;19637234;18593575;18535924;18287885;18079481;17488882;23078847;20482780;20131231;18614621;23401751;23227448;19561306;22495291;22659101;22515595 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122686;21145806;21420943;21458433;21394531;21631938;21800051;21804189;21367423;21576418;23409054;21443680;19481824;21504968;20360068;21755356;21354994;21138461;21676393;18624398;21734188;21767760;21835924;21870882;21900206;21677994;21749932;21840419;21875686;21944998;22245143;22471842;22674204;22675253;22750655;21801720;21854571;21820994;21355296;22056562;23209431;22483015;15654758;23505323;22105741;22418575;20805508;21846716;22229410;19433579;20686565;21640348;21909109;22119776;22219194;22235130;22271762;22282358;22286219;22320308;21868729;22619369;22407494;23037322;23125458;23183508;23410546;23067370;23088652;23233540;15174051;21988832;23233678;23457133;23454085;10222237;10722751;23119086;23322769;23425306;22986928;23219399;22889670;23096223;21103663;22211563;22916037;16204232;22295944;15358760;17786215;22952757;23154241 335 F8W696;P02647 A14829;A15879;ABBA01039746;AF148963;AF485255;AK292231;AMYH01004055;AP006216;AY422952;AY555191;BC005380;BC110286;CH471065;EF444948;J00098;J04066;M11791;M27875;M29068;NG_012021;NM_000039;X00566;X01038;X02162;X07496 AAA35545;AAA51746;AAA51747;AAA62829;AAB59514;AAD34604;AAH05380;AAI10287;AAL92035;AAQ91811;AAS68227;ABM83999;ABM87329;ACA05932;ACA05933;ACA05934;ACA05935;ACA05936;BAF84920;CAA01198;CAA01253;CAA25232;CAA25519;CAA26097;CAA30377;EAW67274;EAW67275;EAW67276;EAW67277;NP_000030;P02647 Hs.93194 1682900;1694932;1741747;1743823;1744175;1802234;1802782;1804332;2004042;2004044;2004046;2004048;2004050;2004052;2004054;2004056;2004058;2004060;2004062;2004064;2004066;2004068;2004070;2004072;2004074;2004076;2096984;2096986;2155693 ECD02000;ECD02278;ECD03090;G44357;GDB:182584;GDB:374151;GDB:434790;REN72933;REN72934;REN72935;REN72936;REN72937;REN72938;REN72939;REN72940;REN72941;REN72942;REN72943;REN72944;REN72945;REN72946;REN72947;REN72948;REN72949;REN72950;RH11465;RH1581;stSG601816;stSG601817 MGC117399 OTTHUMP00000043268;OTTHUMP00000069346;OTTHUMP00000069347;OTTHUMP00000069348;apo-AI;apoA-I;apolipoprotein A-I APPROVED protein-coding ENSG00000118137 600 02517 105200;107680;604091 REVIEWED 737360 APOA2 apolipoprotein A-II This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008] 1 1 q23.3 159458707 159460042 - 161192083 161193418 - 1599158;1599161;1300287;1601191;1601190;1580863;1578416;2313955;2313956;2313960;2313961;2313962;2313957;2313959;2313958;6480464;7240710 1466661;2123716;12738753;9002300;9489233;16011471;19817643;17923573;9829487;9649952;9578960;11246886;9933608;11126402 11162594;218942;9651324;14967812;1606170;10764676;17264082;11991719;7918467;8106353;8636092;12458630;11591715;8640403;14988251;11551871;8245722;12692552;4345202;14718574;16682745;19336475;19285487;19216768;19069164;18766253;18676680;18660489;18652418;18636124;18269685;18179799;17709437;17652309;17446329;16990646;16710414;16407233;16368749;16254078;15922294;15833935;15489334;15388641;15247216;14650352;12959642;12690114;12642785;12522687;12477932;12269810;12136402;12136239;12116266;12116231;12032642;11971944;11714842;9469594;7518568;6816269;6789904;6438100;6433912;6428397;6407957;6328445;6315718;6090207;6089788;4344225;4338591;3935800;3136074;3104518;3088392;2995928;2989800;2415515;2414299;2107739;1908160;210174;12576517;12562854;22723940;21300819;20022911;19170196;19193611;19423540;19618959;19625176;19635584;19651918;19692168;19778946;19878569;19901143;19910634;19948975;20031551;20331378;20406964;20430392;20438785;19913121;20602615;20628086;20679960;20855565;20975728;17786215;10722751;15174051;21501035;21386805;22235130;21103663;23241412;23025327 336 P02652;Q76EI7 AB106565;ABBA01016596;AK312034;AL590714;AMYH01001457;AY100524;BC005282;BT006786;CH471121;M29882;NG_012043;NM_001643;X00955;X02619;X02905;X04898 AAA51701;AAH05282;AAM49807;AAP35432;ABM83419;ABM86631;BAD05173;BAG34971;CAA25467;CAA26474;CAA26665;CAA28583;EAW52618;EAW52619;EAW52620;EAW52621;EAW52622;NP_001634;P02652 Hs.237658 1682866;2140058;2149301;2156650 APOA2;SHGC-17;SHGC-2468;SHGC-32683 Apo-AII;ApoA-II;apoAII OTTHUMP00000032244;apolipoprotein A-II;apolipoprotein A2 1643243;2314798;2314801;2315058;2315765;2315816;2316879 BW132_H;GLUCO117_H;GLUCO120_H;GLUCO133_H;GLUCO149_H;GLUCO177_H;GLUCO304_H APPROVED protein-coding ENSG00000158874 601 00129 107670;143890 REVIEWED 6906997 APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012] q13 GRCh37 novel patch 16407327;16527742;17447845;17727729;17977970;18403710;19461882;19788695;20062055;20178977;20615867;21123384;21460793;21957290;22272271 100913187 P31941 AC192820;GL383583;NM_001193289 NP_001180218 Hs.226307 1658634 STS-T64880 probable DNA dC->dU-editing enzyme APOBEC-3A protein-coding 44196 REVIEWED 737553 APOA4 apolipoprotein A-IV Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008] 11 11 q23 116196628 116199221 - 116691418 116694011 - 1578411;1331525;1580863;1578416;1578442;5685680;5685681;5685682;5685641;5685646;5685649;5685660;5685638;5685661;5685691;5685637;5147768;5685642;5685665;5685692;5685679;5685648;5685659;5685662;5685673;5685694;5685702;2311210;6480464;5685683;5685688;5128563;5685667;5685672;5685678;5685658 12676816;15118671;16011471;10428310;11555832;9272683;10559562;21078314;20367977;19383442;17206692;21356380;16013913;19379511;21569504;21297956;20810159;16372267;19081814;12836058;19589605;18061280;16815451;226830;10892728;2050689;2120218;9013087;22146476;20580919;15254593;2167514;7958503;18343991 16945374;1935934;3080432;11940599;11162594;16159879;3095477;18029348;12692552;4345202;14718574;19433068;19403283;19336561;19336475;19336370;19263529;19166692;19131662;19074352;19060911;19060906;19057464;18996102;18948973;18789138;18678879;18676680;18664021;18660489;18636124;18513389;18430727;18193044;18193043;17964293;17855807;17825930;17712726;17654446;17457002;17378725;17261136;17130180;16929032;16788210;16781717;16770585;16763159;16710093;16651467;16602826;16338932;16326171;16321685;16120654;16105043;16030523;15962178;15928313;15910632;15868628;15864114;15823278;15806598;15764642;15721024;15649902;15559160;15489334;15488874;15359534;15311933;15304365;15258202;15252864;15175360;15108119;14751811;12962772;12860258;12777472;12697303;12691171;12664082;12556235;12495081;12477932;12417525;12220435;12121350;12116231;12082592;11952809;11941585;11841825;11592042;11583715;11472750;11254757;11181750;11108737;10391210;10069372;9988739;8956036;8688083;7728150;6706947;3931073;3755616;3611972;3095836;3036793;2930771;2351649;2331673;2216752;1973689;1737067;1677358;1487136;1349197;2065039;17154273;19170196;19592705;19625176;19689828;19692168;19701693;19732897;19878569;19913121;19948975;20031551;20117098;20164363;20430392;2307668;20609189;20864672;20602615;20628086;20674306;20714348;20554794;21378990;21127258;21324458;23338533;21407247;21767760;21712729;23505323;20686565;21909109;22286219;23132909;23288849;15174051;23096082;22916037 337 P06727;Q13784 ABBA01039746;AL531739;AMYH01004055;AP006216;AY422950;AY555191;BC074764;BC113594;BC113596;CH471065;J02758;M10373;M13654;M14566;M14642;NG_012044;NM_000482;X13629 AAA51744;AAA51745;AAA51748;AAA96731;AAB59516;AAH74764;AAI13595;AAI13597;AAQ91809;AAS68228;ADR82972;ADR83153;CAA31955;EAW67271;NP_000473;P06727 Hs.1247 1694944;1741807;1741955;1744729;1816102;1816280;1817652;1822700;1837992;2004154;2004156;2004158;2004160;2004162;2004164;2004166;2004168;2004170;2004172;2004174;2004176;2004178;2004180;2004182;2004184;2096962;2096964;2096966;2159678 ECD09091;ECD09182;ECD09878;ECD12438;ECD20167;G44371;GDB:185195;GDB:187004;GDB:555472;REN72989;REN72990;REN72991;REN72992;REN72993;REN72994;REN72995;REN72996;REN72997;REN72998;REN72999;REN73000;REN73001;REN73002;REN73003;REN73004;WI-19503;stSG601802;stSG601803;stSG601804 MGC142154;MGC142156 OTTHUMP00000043267;apo-AIV;apoA-IV;apolipoprotein A-IV;apolipoprotein A4 2289454 BW298_H APPROVED protein-coding ENSG00000110244 602 00130 107690 REVIEWED 6480861 APOBEC3B-AS1 APOBEC3B antisense RNA 1 q13.1 100874530 CX754295 Hs.626951 APPROVED miscrna 43836 736192 APOA5 apolipoprotein A-V The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009] 11 11 q23 116165296 116167794 - 116660086 116663136 - 631983;70662;1578411;1578414;1331525;1578412;1578416;2313317;2313314;2313328;2313315;2313318;2313319;2313321;2313322;1601661;6480464;7240710 11588264;11577099;12676816;12818421;15118671;15306190;16011471;18468520;19107359;16238453;18789138;17548321;17087641;16039297;15177130;15941710 21209257;18946207;15117734;12477932;12436249;15178420;15878877;17326667;18635818;16806135;15528295;19629056;19534808;19530961;19403283;19344899;19343127;19336475;19336370;19253837;19207029;19187029;19185284;19159622;19150068;19148283;19141870;19121291;19074352;19060911;19060906;19057464;19056598;19056482;19055447;19034316;19018513;18974842;18801202;18779834;18678879;18660489;18658049;18607181;18603531;18601598;18601597;18596051;18579034;18577813;18572192;18549811;18543217;18537870;18441017;18424353;18395529;18302531;18274806;18274205;18263854;18206649;18193158;18193044;18193043;18179892;18159097;18087544;18078817;18056685;17997385;17964293;17957227;17936576;17922432;17922054;17855807;17768309;17766366;17726453;17722232;17717288;17705673;17700364;17693622;17635078;17548323;17495607;17493548;17485571;17460328;17457003;17431185;17378725;17356049;17222847;17211608;17197160;17183147;17157483;17142127;17032446;16954607;16943456;16917759;16887900;16861622;16806226;16781717;16777114;16769999;16763159;16710093;16687148;16682041;16670016;16636175;16531747;16474174;16448983;16410456;16401313;16386743;16386723;16375582;16325772;16321685;16311097;16258166;16192625;16143024;16054149;16051671;16046221;16006256;15996212;15952115;15941721;15924804;15877284;15857156;15841042;15790933;15781255;15684402;15649902;15636639;15604515;15591215;15542401;15489334;15447887;15369751;15342688;15317819;15300628;15157276;15151505;15135251;15131258;15108119;15046561;14984471;14959997;14732475;14729863;14613578;12975309;12951359;12937897;12920097;12915450;12899628;12810715;12752569;12747596;12709436;12697303;12671030;12637506;12615678;21143013;21238903;22718631;22576629;12417525;12417524;12417270;21463987;21130994;20571505;20628086;20634891;20657596;20674306;20679960;20688329;20696075;20708914;20802161;16344560;16510431;19185864;19362162;19410254;19447388;19567162;19578796;19592705;19656773;19665689;19692219;19701693;19732897;19765959;19825998;19828688;19847674;19878569;19910639;19913121;19915960;19932084;19948975;20031591;20054229;20059973;20137539;20160193;20170397;20303129;20304614;20331378;20392444;20395964;20400780;20413122;20429872;20430392;20442857;20452521;20480398;20490738;22955952;23150946;20469899;20714348;20855565;20869952;20883102;21033077;21054477;20047745;20966404;20838585;20864672;20604726;21287515;21347282;21378990;21386085;21324458;20134407;21489765;22796346;22809445;21423763;21646779;22008704;21438666;21548985;23000161;21132386;21643755;21854571;20686565;21729881;21909109;22171074;22286219;22359512;22437554;21914952;22425169;21707471;23009782;23505323;21375366;21889769;21993410;21505768;22239554;22517333;23266809;22914599;23129316;23251661;21988832;22905904;23065249;23329134;21473680;22350263;22916037;22675253;22688093;22914552;23312054 116519 C9JZZ0;Q6Q788 ABBA01039747;AF202889;AF202890;AK292739;AK308047;AK315229;AMYH01004054;AP006216;AY358749;AY422949;AY555191;BC101787;BC101789;CH471065;DA641693;DB184692;EF444949;NG_015894;NM_001166598;NM_052968 AAF25661;AAF25662;AAI01788;AAI01790;AAQ89109;AAQ91808;AAS68229;ACA05937;ACA05938;BAF85428;BAG37658;EAW67269;EAW67270;NP_001160070;NP_443200;Q6Q788 Hs.283923 1803866;1804686;1805656;1805704;1811518;2004356;2004358;2004360;2004362;2004364;2004366;2004368;2004370;2004372;2004374;2004376;2004378;2004380;2004382;2004384;2004386;2004388;2004390;2004392;2004394;2004396;2004398;2096916;2096918;2096920 ECD02845;ECD03275;ECD03778;ECD03802;ECD06759;REN73090;REN73091;REN73092;REN73093;REN73094;REN73095;REN73096;REN73097;REN73098;REN73099;REN73100;REN73101;REN73102;REN73103;REN73104;REN73105;REN73106;REN73107;REN73108;REN73109;REN73110;REN73111;stSG601776;stSG601777;stSG601778 APOA-V;APOAV;FLJ97995;MGC126836;MGC126838;RAP3 OTTHUMP00000043271;OTTHUMP00000069351;apo-AV;apolipoprotein A-V;apolipoprotein A5;regeneration-associated protein 3 APPROVED protein-coding ENSG00000110243 17288 06966 144650;145750;606368 REVIEWED 736126 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. [provided by RefSeq, Jul 2008] 12 12 p13.1 7693263 7709769 - 7801996 7818502 - 1580863;1626277;1626278;625559;1578416;6480464 11116209;8781289;12020819;16011471 7736571;8078915;17696929;16999936;15979078;15659357;15516966;14559896;12896982;12881431;12683974;12477932;11815617;11727199;11698249;11584023;11577082;11352648;10781591;10669759;9479499;9186903;8999814;8999813;8692961;8208612;7698776;11134005;19911124;19932086;19965785;20331378;20348446;19913121;20628086;18051367;18971252 339 P41238;Q4VB33 AB009426;ABBA01012203;ABBA01012204;AC006927;AI862416;AMYH01004215;AMYH01004216;BC096158;BC096159;BC096160;BC096161;BC101404;BC101405;BC101972;BC101973;BC144708;CH471116;L25877;L26234;NM_001644;U72890;U72891;U78720 AAA64230;AAA86766;AAD00185;AAD09567;AAD10701;AAH96158;AAI01973;AAI01974;AAI72305;BAA23882;EAW88660;EAW88661;NP_001635;P41238 Hs.560 APOBEC-1;BEDP;CDAR1;HEPR C->U-editing enzyme APOBEC-1;OTTHUMP00000180598;apolipoprotein B mRNA editing enzyme complex-1;apolipoprotein B mRNA-editing enzyme 1 APPROVED protein-coding ENSG00000111701 604 02531 600130 REVIEWED 735787 APOB apolipoprotein B This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] 2 2 p24-p23 21077806 21120450 - 21224301 21266945 - 1578415;1578417;1578418;1578419;1578425;1599164;1599165;1580998;1331525;1601202;1601197;1601200;1580863;1578416;1601198;1601203;1626106;2313974;2313976;2313977;2312763;2313981;2313973;2313979;2313980;2313972;1642185;2325763;2325764;2325770;2325761;2317550;1599167;6480464;6484113;7240710 9603795;1732399;9585673;7627691;11903341;3473077;16719989;12730697;15118671;16752182;17045270;16797745;16011471;16828905;16728468;17380167;19592617;19448981;19412820;19260948;18945923;2352345;19324028;19171731;1579407;17292734;18076041;17696941;17203948;20082485;18296645;16581047 20213498;22441101;16920700;16895799;16854991;16801176;16792510;16776623;16758614;16704977;16634094;16620782;16614317;16596945;16545386;16544732;16525840;16455106;16419488;16412386;16389549;16386541;16335952;16316917;16203724;16201717;16159606;16156669;16152798;16136540;16030169;16015283;16007035;15918022;15904989;15890894;15867268;15856946;15830122;15823288;15823278;15795421;15790761;15701167;15699916;15653747;15637307;15630635;15630279;15618547;15616123;15614026;15591776;15585207;15561934;15543563;15504742;15489541;15477777;15469418;15453913;15358600;15355439;15321839;15321838;15321837;15258202;15256516;15254032;15242863;15223114;15207528;15186963;15135253;15135251;15135245;15133863;15111985;15102883;15076187;15047470;15028112;14967820;14967814;14763605;14760718;14746139;14732481;14726411;14718574;14706682;14618390;14567398;14550622;13130121;12964943;12942366;12901521;12895336;12872264;12850958;12818419;12778454;12774037;12760590;12760338;12752570;12736910;12713147;12691171;12670940;12640502;12582154;12576514;12561593;12551903;12547700;12544508;12535758;12529498;12505152;12492446;12477932;12417285;12397634;12397072;12373055;12368141;12235182;12235173;12208478;12206678;12177061;12124991;12082592;12070165;15797858;9685400;2563166;7126555;8245722;19114110;17244792;18322245;15308631;6099394;221835;12692552;4345202;8300609;9548923;1917954;4363408;7853698;19642912;19513531;19501493;19494537;19479237;19449275;19409916;19408349;19342510;19336475;19336370;19319977;19318025;19282863;19263529;19257963;19200547;19200542;19191080;19164805;19156195;19155782;19150065;19148283;19131662;19124125;19122170;19105467;19098283;19084451;19083997;19072566;19064256;19060911;19060910;19060906;19056482;19056372;19034549;19020660;19007590;18940289;18927546;18925970;18728123;18725409;18710658;18701171;18696186;18684539;18665040;18660489;18658047;18636124;18632179;18599996;18597093;18590467;18566298;18550891;18513389;18512131;18496130;18492086;18473452;18393233;18388068;18387362;18354102;18279815;18262040;18258526;18254714;18222178;18193581;18193044;18193043;18187430;18160469;18078817;18067093;18031309;18028451;18027103;17964958;17890784;17884995;17855807;17784784;17698072;17698027;17690102;17672218;17659091;17647275;17640344;17633563;17601988;17595251;17588943;17566095;17548929;17539906;17530370;17502298;17484618;17462654;17457002;17444660;17393220;17393087;17367707;17350490;17349073;17347910;17337758;17299378;17288985;17277465;17277381;17264219;17233885;17214991;17194460;17160438;17158591;17142622;17137217;17129575;17111197;17109403;17071710;17046772;17043676;17038630;17032131;17029200;16989840;16981218;16978902;16963757;16925469;12031600;12011770;11947895;11940087;11940084;11898622;11882317;11869298;11857554;11840804;11833852;11781700;11748351;11737238;11727199;11714857;11575217;11568510;11471883;11459425;11428473;11359462;11359065;11358959;11341749;11333259;11208426;11171287;11170229;11074075;10679026;10513896;12044583;12038793;10330424;9915855;9694898;9565615;9490296;9259199;9252351;9012650;8889592;7883971;6373369;3903660;3860836;3860811;3841481;3841204;3773997;3763409;3759943;3680528;3676265;3659919;3652907;3621347;3522585;3513177;3464946;3461454;3455779;3426612;3346254;3284790;3095664;3087360;3030729;3024665;3022788;3012797;3001697;2994225;2932736;2883086;2567736;2495826;2450346;2445342;2216805;2115173;1979313;17823116;14498830;21356116;22916037;20080084;20506408;20539018;20110441;16233946;16548883;17463246;18720163;18774540;18848826;19022789;19170196;19305020;19344897;19450572;19551315;19578130;19592048;19625176;19632678;19646550;19656773;19667110;19680556;19689828;19692168;19713274;19713673;19729411;19729601;19729689;19766218;19772655;19773416;19802338;19841959;19843101;19860767;19888660;19906129;19913121;19915960;19923980;19932694;19934556;19948975;19956635;19965785;20019594;20031551;20032471;20059992;20099167;20133978;20145306;20150556;20160193;20167577;20167655;20197510;20236128;20353182;20370913;20379614;20383777;20403997;20425806;20452482;20459474;20503456;7592581;20368199;20538126;19797257;20181985;20407020;20413671;20932654;20609357;20872969;23391187;20536507;20565774;20570668;20602615;20628086;20634891;20635694;20657596;20673868;20679960;20724655;20339536;20858904;20382384;20466372;20691427;20691829;20837003;20855565;20864672;20930716;20972250;21039385;21059979;20538481;21393584;20663853;21357823;20816677;21078674;21402897;9765244;21122859;21129357;21129746;10574922;21502677;18948618;21122858;21394531;21800051;22607125;22964994;22985435;22762727;21421992;21460103;22826357;22906437;23067240;21138461;21801720;21404224;21418831;21868729;22581286;21310214;22190736;21960651;23068583;23444115;22905400;22913027;22105741;22301884;22238364;22321874;22341868;21139048;21693764;21906983;22128163;22074108;22408029;22443280;22546827;21952877;20686565;21497351;21640348;21641598;21722902;21943158;21946533;21958700;22041135;22095935;22145905;22223728;22247256;22268108;22353362;22399527;22437562;22507620;22751103;22760866;23118302;23247145;22897442;23410546;22786447;22827961;23171143;21988832;23457133;22407494;22211563;22471842;22674204;22717515 338 A8MUN2;Q13787;Q59HB3;Q7Z7Q0 AB208846;ABBA01045079;AC010872;AC115619;AJ399514;AK290844;AMYH01010157;AY324608;BC051278;CH471053;HM487065;J02610;J04838;K03175;M10374;M12413;M12480;M12681;M14081;M14162;M15053;M15421;M17367;M17779;M18036;M18471;M19734;M19828;M31030;M36676;NG_011793;NM_000384;X03045;X03324;X03325;X03326;X04506;X04714;X04867;X04868;X04869;X04870 AAA35541;AAA35544;AAA35548;AAA35549;AAA51741;AAA51742;AAA51750;AAA51751;AAA51752;AAA51753;AAA51754;AAA51755;AAA51756;AAA51758;AAA51759;AAA53373;AAA53374;AAB00481;AAB04636;AAB60718;AAH51278;AAP72970;AAX88848;AAX93246;ACX32319;ADN03360;BAD92083;BAF83533;CAA26850;CAA27043;CAA27044;CAA27045;CAA28191;CAA28420;CAA28558;CAA28559;CAA28560;CAA28561;EAX00801;EAX00802;EAX00803;NP_000375;P04114 Hs.120759 1657961;1684632;1694908;1740901;1740971;1740977;1740987;1741237;1741475;1741703;1741819;1741821;1741825;1741827;1742179;1745693;1776910;1795366;1856098;2147554;2147620;2157000;2163752;2164408;2167245;2173718;2177995;2181174;2184063;2184513;5020956;5118067;5119673;5119823 APOB;APOB_711;D2S2580;D2S2589;G44341;GDB:171933;GDB:177076;GDB:177093;GDB:177207;GDB:178354;GDB:179436;GDB:181235;GDB:182191;GDB:182192;GDB:185253;GDB:185254;GDB:185282;GDB:185295;GDB:193044;GDB:631915;GDB:681390;RH45452;RH68521;RH68973;RH69077;RH69778;RH70147;RH70400;RH80663;SGC34589;SHGC-33615;SHGC-33670;SHGC-34591;SHGC-56579 FLDB;LDLCQ4 OTTHUMP00000115994;apo B-100;apoB-100;apoB-48;apolipoprotein B (including Ag(x) antigen);apolipoprotein B-100;apolipoprotein B48;apolipoprotein b;mutant Apo B 100 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000084674 603 00133 107730;144010 REVIEWED 1344652 APOBEC3E apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene 22 q13.1-q13.2 37753481 37758367 + 11863358 140565 AL022318 pseudo 17355 1318670 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 6 6 6 p21 42573621 42585311 + 41128991 41140233 + 41020940 41032630 + 1580863;6480464 10403781;18974842;17187054;15489334;14574404;12683974;12477932;11698249;8999814;8125298;8078915;19911124;20138841;21469143 10930 B4DUL0;Q9Y235 ABBA01050760;ABBA01050761;AF086496;AF161698;AI096570;AK223461;AK300689;AK308197;AK310006;AK313288;AL031778;AMYH01016291;BC047767;BC069688;BC069764;BI438931;CB051273;CH471081;NM_006789 AAD45360;AAH47767;AAH69688;AAH69764;BAD97181;BAG36096;BAG62372;EAX04009;NP_006780;Q9Y235 Hs.555915 1700362;2109051 APOBEC2_9198;RH103801 ARCD1;ARP1 OTTHUMP00000016367;apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2;probable C->U-editing enzyme APOBEC-2 protein-coding 605 07268 604797 VALIDATED 1351728 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 q13.1-q13.2 37683569 37689134 + 39353527 39359188 + 1580863;6480464 17447845;19788695;22457529;21957290;19461882;18403710;17977970;17727729;16407327;16344560;15489334;15461802;12859895;12683974;12539042;12477932;11863358;10737800;10591208;10469298;1286667;16527742;20615867;19911124;20062055;20178977;20972438;21123384;22948384;21460793;22798497;22977230;22272271;21963094;23000965;21279453;21906983;22822074;19008196;19038776;20012521 200315 B7ZLZ1;P31941 ABBA01055544;AL022318;AMYH01012771;BC126416;BC144146;BI029063;CH471095;CR456393;DB322320;NM_001270406;NM_145699;U03891 AAA03706;AAI26417;AAI44147;ADR82854;CAG30279;CAK54381;CAK54680;EAW60278;NP_001257335;NP_663745;P31941 Hs.226307 1658634;5015881;5021872;5022651;5037552 D11S2921;D8S2279;GDB:335751;STS-T64880;sY3084 A3A;ARP3;PHRBN;bK150C2.1 DNA dC->dU-editing enzyme APOBEC-3A;OTTHUMP00000198910;phorbolin 1;phorbolin-1;probable DNA dC->dU-editing enzyme APOBEC-3A APPROVED protein-coding ENSG00000128383 17343 06168 607109 REVIEWED 1347030 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 22 22 q13.1-q13.2 37708351 37718729 + 39378404 39388784 + 1580863;6480464 11863358;18403710;18024895;17977970;17447845;17020885;16648136;16407327;16060832;15489334;15466872;15461802;15269786;12859895;12683974;12477932;22457529;10591208;10469298;20684727;16527742;19698078;19911124;20104108;21715505;21878639;22446380;21139048;21906983;22108670;11337467;23150777;23542011;21963094;23000965;23389445;16699599;15296758;16414984;17067930;17083721;17303427;18304004;18577210;19008196;19038776;20174454;22720156 9582 B0QYD3;Q9UH17 ABBA01055544;AK024854;AL022318;AMYH01012771;AU098564;AY743217;BC031803;BC053859;BX114955;CH471095;CT841510;NM_001270411;NM_004900;U61083;U61084 AAD00089;AAD00090;AAH53859;AAW31743;CAJ86440;CAK54382;CAK54462;CAK54681;CAK54761;EAW60279;EAW60280;EAW60281;EAW60282;NP_001257340;NP_004891;Q9UH17 Hs.226307;Hs.658626 1658634 STS-T64880 A3B;APOBEC1L;ARCD3;ARP4;DJ742C19.2;FLJ21201;PHRBNL;bK150C2.2 DNA dC->dU-editing enzyme APOBEC-3B;OTTHUMP00000199088;OTTHUMP00000199089;OTTHUMP00000199090;cytidine deaminase;phorbolin 2;phorbolin 3;phorbolin-1-related protein;phorbolin-2/3;probable DNA dC->dU-editing enzyme APOBEC-3B APPROVED protein-coding ENSG00000179750 17352 06169 607110 REVIEWED 1345381 APOBER1 apolipoprotein B mRNA editing enzyme regulator 340 606 1349209 APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23219153 23231291 + 37747173 37751626 + 39417118 39429256 + 1580863;6480464 19088851;16920826;16648136;16344560;15516966;15496550;15461802;15269786;12859895;12683974;12477932;11863358;10737800;10591208;23097438;22807680;22205746;22505724;22720156;18304004;18577210;19008196;19038776;19344514;19535450;19649317;20012521;20096141;20174454;20943965;21835787;22203821;19738201 140564 B2CML4;Q6ICH2;Q96AK3 ABBA01055546;AL022318;AMYH01012771;BC017022;BE888971;BF832090;BM917407;BX340829;CH471095;CR456396;DA287097;DB121958;EU527884;NM_152426 AAI48620;AAI53186;ACB32248;CAG30282;CAK54385;CAK54684;EAW60285;EAW60286;NP_689639;Q96AK3 Hs.629775;Hs.658626 2144544;2162869;5015619;5037552 D11S3114;D8S2279;G18167;RH65953 A3D;APOBEC3DE;APOBEC3E;ARP6 DNA dC->dU-editing enzyme APOBEC-3D;OTTHUMP00000199087;apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative);apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene;apolipoprotein b mrna editing enzyme, catalytic polypeptide-like 3d;probable DNA dC->dU-editing enzyme APOBEC-3D APPROVED protein-coding ENSG00000243811 17354 16501 609900 REVIEWED 1604731 APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 22 22 q13.1 37823236 37829946 + 39493229 39500072 + 21167246;22457529;18945781;18827027;18779051;18420796;18403710;18299330;16571802;15461802;12683974;12477932;21270145;19828612;19939923;20519396;22013041;21653666;22023594;22859935;19344514;19649317;19694548;20096141;20174454;20519393;21835787;22203821;22205746;22720156 164668 B7TQM3;B7TQM9;Q6NTF7 ABBA01055549;ABBA01055550;AL031846;AMYH01012771;AMYH01012772;AMYH01012773;BC069023;BQ052182;BQ054330;BU585251;CH471095;CR456481;FJ376611;FJ376612;FJ376613;FJ376614;FJ376615;FJ376616;FJ376617;NM_001166002;NM_001166003;NM_001166004;NM_181773 AAH69023;ACK77772;ACK77773;ACK77774;ACK77775;ACK77776;ACK77777;ACK77778;CAG30367;EAW60294;EAW60295;EAW60296;NP_001159474;NP_001159475;NP_001159476;NP_861438;Q6NTF7 Hs.440515 1771297 D22S1134 A3H;ARP10;dJ742C19.2 APOBEC-related protein 10;ARP-10;DNA dC->dU-editing enzyme APOBEC-3H;OTTHUMP00000199085;OTTHUMP00000199086;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H APPROVED protein-coding ENSG00000100298 24100 16508 610976 REVIEWED 1317202 APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008] 22 22 q13.1 37740211 37744789 + 39410265 39414843 + 6480464 17353931;19581596;19390611;19088851;18702815;18555089;18420796;18419775;18391217;18032489;17977970;17967058;17672864;17625792;17582006;17371941;17078485;16735504;16060832;15956565;15862967;15489334;15466872;15461802;12859895;12683974;12477932;11863358;10591208;10469298;16414984;15809227;21368204;19369234;19911124;20096141;14702039;23001005;22948384;16527742;21430060;21139048;21890473;21906983;21279453;19738201;21988832;23000965;19322201;22145963;21746770;18304004;18495196;18577210;18806783;18846074;19109396;19535450;20012521;20174454;20926562;20943965;22205746;22379088 27350 F8WB92;Q9NRW3 AB208979;ABBA01055545;ABBA01055546;AF165520;AK094570;AK313272;AL022318;AMYH01012771;BC011739;BC021080;CH471095;CQ834178;CR456394;NM_014508 AAF86650;AAH11739;BAD92216;BAG36081;CAG30280;CAH05304;CAK54383;CAK54682;EAW60283;EAW60284;NP_055323;Q9NRW3 Hs.441124 2218234;5123219 APOBEC3C__4342;STS-N58010 A3C;APOBEC1L;ARDC2;ARDC4;ARP5;FLJ37251;MGC19485;PBI;bK150C2.3 APOBEC1-like;DNA dC->dU-editing enzyme APOBEC-3C;OTTHUMP00000199092;phorbolin I;probable DNA dC->dU-editing enzyme APOBEC-3C APPROVED protein-coding ENSG00000244509 17353 09671 607750 REVIEWED 1342905 APOC1P1 apolipoprotein C-I pseudogene 1 19 19 q13.2 42234383 42238966 + 45430060 45434643 + 2835369;11752456;16344560;16712791;22359512 342 ABBA01040895;ABBA01040896;AC011481;AMYH01009846;AV645786;CB162526;DA636997;DA638554;EF553526;M20903;NR_028412;NR_028413;NR_028414 Hs.110675;Hs.729930 1660896;1792822 PMC164795P2;STS-M20903 DKFZp781C1677 pseudo ENSG00000214855 608 VALIDATED 1345786 APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 q13.1 37766619 37781923 + 39436673 39451977 + 1580863;6480464 22451677;17145955;17142455;17020885;16767679;16699599;16648136;16501124;16460778;16344560;15647250;15489334;15461802;15152192;15054139;15031497;14702039;14565218;14557625;14557052;14528301;14528300;14527406;12970355;12859895;12809610;12808466;12808465;11863358;17121840;19487726;19169351;19088851;19036809;18619467;18603011;18367521;17977970;17609216;17522216;21396348;12683974;12477932;12167863;10591208;8889548;8570611;17038330;16940537;17067930;16641889;15296757;15141007;20592083;19535447;19561087;19587057;20153011;20219927;20335268;20702622;20844042;20592068;20624919;20686027;23097438;16527742;23536679;21897871;22013041;23318957;21279453;21573951;16014920;19109396;21044950;21139048;22315404;16378963;17303427;17428847;17459442;18067920;18262674;18304004;18448538;18541215;18577210;18604271;18806783;18846074;18976920;19008196;19038776;19149995;19344514;19535450;19649317;19669862;19826902;19837465;19939923;19944180;20012521;20096141;20174454;20299747;20538015;20610708;20943965;20971849;21741003;21835787;21994560;22203821;22205746;22286874;22379088;22647704;22695298;22720156;22807680;22855686 200316 Q8IUX4 ABBA01055546;ABBA01055547;AK294810;AL022318;AMYH01012771;BC038808;BE888653;BE892372;BG280786;BG744406;BG758984;BM681311;BQ056344;BQ182066;BQ941658;BX367450;CH471095;CR456395;CX165430;DA221480;DQ146365;JF262037;NM_001006666;NM_145298;U38435 AAH38808;AAZ38720;AEA39617;BAG57929;CAG30281;CAK54384;CAK54683;EAW60288;EAW60289;NP_001006667;NP_660341;Q8IUX4 Hs.659809 2144544;5015879;5016478;5017227;5017266;5020414;5022200;5022578;5037552;5118444 D11S3316;D1S1423;D8S2279;G18167;G38154;GDB:314949;GDB:434012;L17688;L18426;L18506 A3F;ARP8;BK150C2.4.MRNA;KA6;MGC74891 DNA dC->dU-editing enzyme APOBEC-3F;OTTHUMP00000199082;OTTHUMP00000199083;apolipoprotein B mRNA editing enzyme cytidine deaminase;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F;induced upon T-cell activation APPROVED protein-coding 17356 16415 608993 REVIEWED 1349849 APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Jul 2008] 22 22 q13.1-q13.2 37803082 37813694 + 39473010 39483748 + 1580863;6480464 15353294;15297452;15286366;15269786;15245742;15210704;15177194;15168739;15159405;15156567;15152192;15116720;15080177;15054139;15031497;14747572;14702039;14672928;14614829;14565218;14557625;14557052;14528300;14527406;12970355;12920286;12914693;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12683974;12477932;12167863;10591208;9846577;9811770;16971427;17020885;15479826;15464836;18184715;18165230;18077705;18023836;17928335;17916373;17898068;17892323;17886715;17881443;18288108;18272764;17869248;17855362;17848567;17825339;17670826;17631688;17609216;17522216;17522211;17517765;17374143;17344295;17314171;17272283;17267497;17259974;17251560;17237417;17212712;17166910;17161027;17145955;17142455;17126871;17083721;17079235;17079095;17067930;17065315;17052331;17049578;17036163;17030807;16988524;16940537;16887808;16874860;16731938;16710452;16699599;16678488;16641889;16641260;16622407;16501124;16460778;16426578;16414984;16354571;16344560;16250885;16000409;15943885;15823539;15721369;15674295;15647250;15613310;15611076;15609224;15581898;15578976;15574592;15537645;15489334;15461802;15452227;15383144;15373943;15358144;19057663;19036809;19027180;19004939;18987139;18851679;18849968;18842592;18836454;18809921;18684817;18667511;18652534;18639915;18619467;18603011;18597676;18501607;18499212;18480459;18456846;18420796;18414671;18367521;18366335;18362149;18326044;18308358;11863358;17121840;12859895;14528301;14564014;15098018;15479846;15781449;18029348;19487726;19389408;19371434;19345973;19343218;19324886;19304304;19300495;19297501;19266078;19254362;19216784;19197360;19169351;19153609;19136562;21396348;14999100;14978281;14966139;17023652;16631224;16303161;16418394;15215254;16169070;22791714;15574593;17135358;19088851;22369580;22379088;22809226;22645179;22362763;20668529;20523896;20592083;20636339;20338830;20128960;18647522;17064466;20610708;20510315;20463074;20463080;17440614;17849022;18843993;19497112;19535442;19535447;19535450;19561087;19585516;19587057;19649317;19776130;19886996;19887642;19910370;19996938;20023216;20038599;20104108;20147392;20152150;20153011;20212048;20219927;20335268;20363737;20844042;20833716;21832049;21300806;19560422;21078663;16527742;21489586;21698207;20874421;21228271;21480314;21217078;21123176;23097438;23300442;20642434;21763507;22828015;22999946;21737457;21571098;23432984;22807680;21752914;23138837;23152537;21239176;21659520;21071676;21784078;21279453;21573951;22339232;21897871;21856286;21874023;21985787;16571802;22272271;22301159;22346743;21182427;22013041;21935481;22190037;23318957;23536679;23576497;23596292;22894923;18680593;21890473;22205746;22315404;22579353;16530799;19109396;23271983;23316055;23128233;23411593;23555255;16378963;16822376;17291161;17303427;17331040;17338854;17428847;17459442;17586316;17727729;17824250;17869271;17942420;17959647;18036235;18262674;18298807;18304004;18338854;18391217;18414697;18448538;18495196;18541215;18572219;18577210;18604271;18675436;18789977;18806783;18819469;18827027;18846074;18971252;18976462;18976920;19004943;19008196;19020832;19038776;19050398;19128510;19149577;19149995;19211937;19344514;19357165;19401538;19494012;19669862;19694548;19717177;19826902;19837465;19841153;19939923;19944180;20012521;20012529;20015971;20018238;20096141;20174454;20219919;20299747;20463065;20538015;20571604;2059206;20624919;20638642;20668078;20939174;21147461;21147467;21149631;21152581;21345952;21370050;21393191;21734563;21741003;21934670;21972557;22017399;22190036;22203821;22218868;22274659;22347227;22509177;22553496;22555953;22647704;22695298;22725134;22728817;22787460;22855686;22970171;22152111 60489 Q05JX5;Q9HC16 AB266487;ABBA01055548;AF182420;AK022802;AK092614;AK093635;AK310279;AK315650;AL022318;AL078641;AMYH01012771;BC009683;BC024268;BC061914;CH471095;CR456472;DA457434;DQ147772;JF262036;KC329531;NM_021822 AAG14956;AAH24268;AAH61914;AAZ38722;AEA39616;AGI04219;BAF34652;BAG38016;CAG30358;CAK54453;CAK54752;EAW60292;NP_068594;Q9HC16 Hs.660143 1729197;5020988;5022578;5037552;5122683 D1S1423;D1S2481;D22S958;D8S2279;UniSTS:146584 A3G;ARCD;ARP-9;ARP9;CEM-15;CEM15;FLJ12740;MDS019;bK150C2.7;dJ494G10.1 APOBEC-related cytidine deaminase;APOBEC-related protein 9;DNA dC->dU editing enzyme;DNA dC->dU-editing enzyme APOBEC-3G;OTTHUMP00000199084;apolipoprotein B editing enzyme catalytic polypeptide-like 3G;apolipoprotein B mRNA editing enzyme cytidine deaminase;deoxycytidine deaminase;phorbolin-like protein MDS019 APPROVED protein-coding ENSG00000239713 17357 06172 607113 REVIEWED 1607021 APOBR apolipoprotein B receptor Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008] 16 16 16 p11 27693485 27697774 - 28413494 28417783 + 28505970 28510291 + 6480464 10852956;15830122;15591219;12477932;21367954;22190030 55911 Q0VD83 ABBA01043652;AC138894;AF141332;AF141333;AF141334;AK025123;AK075085;AMYH01007433;BC119786;BC119788;CH471279;NM_018690 AAF76255;AAF76256;AAF78765;AAI19787;AAI19789;EAW52278;EAW52279;EAW52280;NP_061160;Q0VD83 Hs.200333 1743451 GDB:335745 APOB100R;APOB48R apoB-48R;apolipoprotein B receptor;apolipoprotein B-100 receptor;apolipoprotein B-48 receptor;apolipoprotein B100 receptor;apolipoprotein B48 receptor APPROVED protein-coding ENSG00000184730 24087 05561 605220 REVIEWED 1606067 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 156726442 156733480 - 181882033 181889071 - 183615410 183622448 - 6480464 16710414;16082223;15489334;14702039;12477932;19911124;22318606;23273568 403314 Q8WW27 ABBA01027746;AI961390;AK098557;AL137800;AMYH01001553;BC021711;CH471067;NM_203454 AAH21711;ADZ15918;BAC05332;EAW91169;NP_982279;Q8WW27 Hs.97335 C1orf169;MGC26594 OTTHUMP00000033512;apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4;putative C->U-editing enzyme APOBEC-4 APPROVED protein-coding ENSG00000173627 32152 17522 609908 REVIEWED 1342697 APOEL1 apolipoprotein E-like 1 1505951 349 614 735472 APOC1 apolipoprotein C-I The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.2 50109761 50114446 + 45417921 45422606 + 1578472;1578471;1580863;1578426;2313951;2313950;2313953;2313948;2325793;6480464 11825674;10073946;11714102;11723061;12753304;3757210;17310220;15876873 17339654;2302419;18992221;11162594;4020294;10978346;15576844;1917954;11256614;19336575;19336475;19252179;19062221;19060906;19014618;18976728;18802019;18667498;18262040;18193044;18193043;18160739;18049452;18037960;17936795;17761674;17667986;17341095;17254710;17053273;16981907;16935938;16763159;16631424;16608402;16544732;16478678;16459141;16381901;16159884;15900219;15840864;15793777;15777558;15769335;15767578;15489336;15489334;15364690;15339254;15077570;14746139;14705977;14523051;12962909;12860251;12736801;12705839;12678662;12477932;12429068;12220441;12113906;12044170;12032151;11702052;11076863;10520737;10391210;9300485;8804993;8432525;8125298;7779782;7471419;6789904;6328444;4369340;3017837;3013172;2985493;2897845;2835369;166984;11991719;21196492;21740922;17998437;182536;18984910;19197348;19368908;19417222;19494537;19567438;19761869;19785722;19808960;19812053;19913121;19936222;20145290;20308432;20331378;20339536;20430392;20498921;20571754;20580041;20628086;17463246;17474819;17975299;20442857;20691829;20714348;20864672;20880607;20972250;21187063;21300955;21103663;21267442;18835943;22995522;22264166;21943158;22832961;21533863;21900206;22022282;22474067;20686565;21909108;22003152;22005931;22054870;22286219;22404376;15174051;23031429;23118302;23419831;23455636;22710912 341 B2R526;K7EJI9;K7EKP1;K7ELM9;K7ELU7;K7EPF9;K7EPR9;K7ERI9;P02654 ABBA01040892;ABBA01040893;ABBA01040894;AC011481;AF050154;AI310334;AI885116;AK225971;AK312036;AMYH01009846;AY422954;BC009698;BC055093;BT007142;CH471126;CR456907;FJ525874;M20843;M20902;M27359;NG_012859;NM_001645;X00570 AAA51762;AAA51763;AAA88018;AAD02506;AAH09698;AAH55093;AAP35806;AAQ91813;ACN81312;ACT64518;ACT64519;BAG34973;CAA25235;CAG33188;CAL37605;EAW57307;EAW57308;NP_001636;P02654 Hs.110675 1792822 PMC164795P2 apo-CIB;apoC-IB;apolipoprotein C-I;apolipoprotein C1 1643251 BW139_H APPROVED protein-coding ENSG00000130208 607 00131 107710 REVIEWED 1352001 APOC2 apolipoprotein C-II This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011] 19 19 q13.2 50141083 50144658 + 45449239 45452822 + 1599175;1358408;1358409;1601191;1601207;1601205;1601212;1601206;1601208;1580863;1578471;1601204;1601214;2313970;2313973;2313966;2313953;2313968;6480464;7240710 1782747;10335523;12450397;9002300;8490626;7590197;2242096;7923858;1468157;10073946;16153625;3944267;8366982;2352345;12733353;3757210;8139482 10727238;8245722;11162594;4020294;15778093;1917954;15878877;4345202;14718574;17336988;16682745;19336475;19336370;19060906;19034041;19014618;18852267;18802019;18660489;18206908;18193044;18005990;17855807;17717288;182536;8323539;8112221;7815420;6706938;6593704;6546757;6328478;6328445;3944271;3680515;3558370;3525527;3474626;3467353;3263393;3192518;3030808;3014272;2477392;2415514;2209608;1971748;1555583;194244;17429947;17174330;17018885;16763159;16459141;16432277;15489334;15031287;14746139;12783430;12782148;12682050;12590574;12477932;12220441;12032151;11930616;11752456;11751863;11579204;11310852;10391210;17222387;16968945;19197348;19534808;19878569;19913121;19948975;20031551;20042600;20331378;20430392;20498921;21321243;20571754;20628086;20634891;20714348;20864672;20972250;21146539;8530039;21476595;21943158;21985034;15174051;22244853;20686565;22286219;22239554;22808166 344 P02655;Q6P163 AA883870;ABBA01040898;AC011481;AF113884;AMYH01009847;AV694494;AY422955;BC005348;BC065270;BT006708;BU596546;CH471126;FJ525875;J02698;M10612;M29844;NG_008837;NM_000483;X00568;X05151 AAA51743;AAA98743;AAB59380;AAD28193;AAH05348;AAH65270;AAP35354;AAQ91814;ACE87064;ACE87745;ACN81313;CAA25234;CAA28798;EAW57311;EAW57312;EAW57313;NP_000474;P02655 Hs.75615 1677400;1740885;1740893;1741251;1741607;2127069;2166636;2175931;2217020 APOC2_2725;GDB:171122;GDB:171136;GDB:179875;GDB:181560;RH18398;RH36305;RH46551;RH91449 APO-CII;APOC-II;MGC75082 apo-CII;apoC-II;apolipoprotein C-II;apolipoprotein C2 1643251 BW139_H APPROVED protein-coding ENSG00000224916 609 07457 207750;608083 REVIEWED 737569 APOC3 apolipoprotein C-III Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008] 11 11 q23.3 116205834 116208997 + 116700624 116703787 + 1578443;1331525;1601191;1601223;1601226;1601224;1599190;1580863;1578471;1578441;1578447;1578444;1601225;1578442;1626412;2313970;2313973;2306767;2306754;2306768;2306771;2306765;2306755;2306766;2313968;2313972;5685674;6480464;5685676;7207220;7240710;7207208;7207209;7207210;7207211;7207212;7207205;7207207 14709372;15118671;9002300;17416293;15734841;16321685;8429259;10073946;11959336;2879788;7705829;15863838;10428310;15059615;8366982;2352345;15715433;17654446;15642486;18805913;16505251;16813599;16298371;8139482;1579407;9062353;9812922;22160518;21613792;21297177;20797315;17957542;10822722;21670290;21829457 18188530;18187430;18179892;18096054;18034366;18020971;17996965;17964293;17919884;17885207;17855807;17853951;17825930;17726453;17700364;17672999;17615573;17457002;17378725;17367769;17342071;17318300;17314277;17283453;17261136;17197160;17142127;17038637;17032446;17020471;17016614;16973241;16935699;16917759;16864937;16861622;16781717;16769999;16763159;16710093;16705465;11162594;11060345;182536;3973011;15576844;18635818;9254056;4066713;16443932;18767813;4020294;15778093;17438339;1917954;18399797;4345202;17336988;19501493;19479237;19424489;19403283;19336475;19336370;19322776;19263529;16702309;16682041;16602826;16495512;16430904;16417409;16410456;16343038;16326171;16276364;16205020;16192625;16136540;16030523;16015281;15983323;15962178;15949705;15924804;15910632;15868628;15864534;15862889;15823278;15809899;15764642;15657615;15649902;15598690;15585206;15576429;15549499;15542401;15489334;15488874;15375785;15364160;15304365;15292332;15175273;15161788;15151505;15124908;15117734;15108119;15076187;15039125;15019539;14718574;14650351;14612212;14569462;14563827;14517726;12964943;12962772;12782148;12754559;12732844;12697301;12692252;12691171;12676816;12600077;12588953;12556235;12514935;12477932;12417525;12401896;12235176;12189450;12176399;12118856;12116231;12082592;12082170;12052247;12048138;12048121;11903304;11893778;11840804;11839757;11837227;11740190;11737222;11714857;11605014;11575217;11572515;11533368;11512679;11500189;11472750;11443500;11427182;11359462;11341749;11284423;11282888;11270684;11193221;11181747;11171287;11152845;11126401;11116069;10870325;8099442;6548954;6439535;6404278;6328445;6308458;19207029;19166692;19131662;19074352;19060911;19060906;19057464;19056482;19034316;19000312;18823627;18801202;18789138;18753860;18678879;18660489;18566295;18560672;18556566;18541587;18513389;18509206;18408013;18289550;18274205;18240956;18206649;18193044;18193043;4846755;3949020;3935800;3931677;3931073;3123586;3095836;2989400;2022742;20071361;20097930;21183731;16968945;17154273;19502413;19534808;19578796;19592705;19622837;19656773;19689828;19701693;19732897;19785722;19878569;19910636;19913121;19932084;19948975;20031551;20331378;20335584;20368524;20452482;20517165;8245722;21274868;20864672;20303494;20727869;20536507;20602615;20628086;20673868;20674306;20716347;20002542;20714348;20855565;21033077;21499891;21378990;21080234;21267442;21185820;21646779;21676879;21373834;21421846;22004016;22675253;19850743;21939545;21767760;21986282;21663607;21854571;22023023;21829161;22141340;23505323;22301884;21603779;18835943;15174051;21103663;21988832;22848358;21777557;20686565;21909109;22211242;22286219;22054125;22197810;22101237;21321243;23173569;22916037 345 A3KPE2;B0YIW2;C9J2Q0;P02656 ABBA01039746;AMYH01004055;AP006216;AY422951;AY555191;BC027977;BC121081;BC134419;CH471065;CQ924609;EF444950;J00098;M28613;M28614;M33043;NG_008949;NM_000040;V01513;X00567;X01388;X01392;X03120 AAA51760;AAA51761;AAB59372;AAB59515;AAH27977;AAI21082;AAI34420;AAQ91810;AAS68230;ABM82970;ABM86164;ACA05940;ACA05941;ACA05942;CAA24757;CAA25233;CAA25644;CAA25648;CAA26895;CAI23899;EAW67272;EAW67273;NP_000031;P02656 Hs.73849 1669174;1669176;1695008;1740967;1741177;1741341;1745789;1806236;1808162;1824550;1825184;1840054;1842180;1845252;1849414;2004090;2004092;2004094;2004096;2004098;2004100;2004102;2004104;2004106;2004108;2004110;2004112;2004114;2004116;2004118;2004120;2004122;2004124;2004126;2004128;2096972;2096974;2096976;2107843;2147419 APOC3;APOC3_7748;D11S4370;D11S4435;ECD04073;ECD05062;ECD13373;ECD13693;ECD21211;ECD22293;ECD23843;G44717;GDB:176981;GDB:178433;GDB:180740;GDB:636456;REN72957;REN72958;REN72959;REN72960;REN72961;REN72962;REN72963;REN72964;REN72965;REN72966;REN72967;REN72968;REN72969;REN72970;REN72971;REN72972;REN72973;REN72974;REN72975;REN72976;RH66448;stSG601810;stSG601811;stSG601812 APOCIII;HALP2;MGC150353 OTTHUMP00000043270;OTTHUMP00000069353;apo-CIII;apoC-III;apolipoprotein C-III;apolipoprotein C3 APPROVED protein-coding ENSG00000110245 610 00132 107720;614028 REVIEWED 736043 APOC4 apolipoprotein C-IV This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011] 19 19 q13.2 50137335 50140591 + 45445495 45448753 + 1580863;6480464 8530039;18809223;8827523;12700345;17154273;19336475;19060906;18802019;18193044;18193043;16763159;16335952;15489334;12477932;12032151;10996355;8910501;19197348;19913121;20331378;20430392;20498921;20571754;20602615;20628086;20714348;20855565;20864672;20972250;11752456;16344560;21103663;21943158 346 K7EMC3;P55056 ABBA01040897;ABBA01040898;AC011481;AMYH01009847;AV690709;AY422953;BC020723;CH471126;DB185657;EF371378;HC250943;HC311132;NG_008837;NM_001646;U32576 AAA91653;AAH20723;AAQ91812;ABQ40075;CBJ05769;CBJ21221;EAW57310;NP_001637;P55056 Hs.731599 2127069;2166636 RH18398;RH46551 APO-CIV;APOC-IV apo-CIV;apoC-IV;apolipoprotein C-IV;apolipoprotein C4 1643251 BW139_H APPROVED protein-coding ENSG00000224916;ENSG00000267467 611 02848 600745 REVIEWED 737460 APOD apolipoprotein D This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008] 3 3 q26.2-qter 196776865 196792278 - 195295573 195311076 - 1580863;2311203;2311202;2311209;2311178;2311179;2311196;2311182;2311177;2311180;6480464 10372566;10501208;9751198;7895459;7913935;11444882;17851453;15369805;6828336 3453108;7918467;14718574;19519777;19176353;18979643;18977241;18842892;18671953;18458334;18419796;18330697;17885669;17601350;16966838;16437381;16402085;16344560;16335952;15916898;15489334;15316799;15192024;14760718;14596852;14551159;14500696;12873803;12837283;12497622;12477932;12363390;12052480;11744388;11344130;11058760;10391209;8889548;8692868;8549691;7613477;6774335;2891117;2439269;2244881;2083249;16169070;17353931;21182205;15862967;21145461;21319273;19330472;19723339;19878569;19944460;20430392;20493910;19913121;20628086;20855565;21705670;21526344;9278274;21429623;21628590;3104518;22479522 347 C9JF17;C9JX71;F8WBT9;P05090 ABBA01001604;AC069213;AK294523;AK312090;AMYH01013786;BC007402;BQ008672;BT019860;BT019861;BU195270;BU727194;CH471052;CR456838;CR541773;DA892855;J02611;M16648;M16649;M16695;M16696;NM_001647;S80440 AAA51764;AAB35919;AAB59517;AAH07402;AAV38663;AAV38664;ABM83594;ABM87123;BAG35026;BAG57734;CAG33119;CAG46572;EAW78023;EAW78024;NP_001638;P05090 Hs.522555 1337811;1741421;1858414;2131129;2135362;2151167;7186881;7187888;7187893 D3S1305;GDB:181196;RH69430;STS-J02611;STS-W81076;WI-18936 OTTHUMP00000208785;OTTHUMP00000208787;OTTHUMP00000208788;apo-D;apolipoprotein D 1643508 BW262_H APPROVED protein-coding ENSG00000189058 612 00134 107740 REVIEWED 1344329 APOF apolipoprotein F The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008] 12 12 q13.3 55040622 55042850 - 56754355 56756583 - 1580863;6480464 6816269;8093033;14718574;18369235;17901467;15489334;15172102;12907677;12477932;9880564;204339;19878569;20331378;20602615;17207965;20691829;20855565;21937674 319 F5GXS5;Q13790 ABBA01008424;AC025574;AK314892;AMYH01004504;BC026257;CH471054;CR936663;L27050;NM_001638 AAA65642;AAH26257;ADQ32134;BAG37406;EAW96938;NP_001629;Q13790 Hs.534302 1660175 STS-L27050 Apo-F;DKFZp781G18150;LTIP;MGC22520 OTTHUMP00000244253;apolipoprotein F;lipid transfer inhibitor protein APPROVED protein-coding ENSG00000175336 615 00137 107760 REVIEWED 1347333 APOL5 apolipoprotein L, 5 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 q12.3 34443865 34455476 + 36113919 36125530 + 1580863;6480464 11374903;17474147;10591208;20602615;20691427 80831 Q9BWW9 ABBA01055424;AL049748;AMYH01012747;AY014878;NM_030642 AAI56796;AAK07723;NP_085145;Q9BWW9 Hs.326561 APOL-V;APOLV OTTHUMP00000197877;apolipoprotein L-V;apolipoprotein L5 APPROVED protein-coding ENSG00000128313 14869 06265 607255 REVIEWED 1321637 APOH apolipoprotein H (beta-2-glycoprotein I) Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008] 17 17 q24.2 61638609 61656018 - 64208147 64225556 - 1578489;1580863;2313984;2313985;2313986;2313988;2313989;2313990;2313992;2313982;2313983;2313991;6480464 15507263;16126948;15322656;14595478;11795690;11302005;9472678;6613192;18695102;17626983;9377806 16480936;9269765;7417307;15486070;4052628;17872974;14726399;15534879;7078428;222615;18029348;19275896;19248095;19132787;19069167;19052923;19002041;18996102;18777117;18676959;18521522;18495556;18452581;18383370;18328538;18205270;18093092;18073216;18034767;17726161;17715943;17662972;17603016;17469158;17200780;17096706;17057945;17053060;16960938;16905548;16879209;16855163;16740002;16724168;16686261;16625500;16603439;16335952;16199891;16159595;15956288;15916797;15821830;15653437;15641049;15522884;15507264;15489334;15488942;15252864;15094940;15084671;15025925;14768953;14760718;14719180;14718574;14707422;14644075;14601646;12970918;12918732;12887738;12807892;12673579;12648080;12605674;12590955;12571857;12562869;12495081;12495080;12477932;12471146;12441378;12440522;12428105;12371681;12362233;12235181;12139935;12124280;12038453;12031135;11953211;11816715;11686326;11434778;10809787;10562535;10508150;9914524;9727058;9596664;9352386;9225969;9155091;9063752;8989432;8460120;8139027;8099061;6587378;6403535;3361230;2349221;1777418;1748314;1655523;1650181;1602135;1582254;1426288;1339416;16038107;22246055;22635228;22635233;16938165;18029906;19350132;19578796;19676115;19694946;19706343;19706887;19715922;19758193;19805618;19851667;19878946;19965629;20004024;20026018;20029801;20089041;20237496;9058203;20874780;20581778;20204408;20539917;20440842;19913121;20601596;20602615;20628086;20140737;20665665;20629942;20979592;21498672;22940059;21602492;21899894;23214196;21454452;21478209;21618459;22964479;18624398;21501325;22399073;22056596;23692565;22427365;21240499;21535391;21999151;22956423;23279374;22394675 350 J3KS17;J3QLI0;J3QRN2;P02749 ABBA01029032;ABBA01029033;ABBA01029034;AC006120;AK298416;AK313838;AMYH01008577;AY322156;BC020703;BC026283;BG566874;BM005736;CH471099;HM212425;M62839;NG_012045;NM_000042;S80305;X53595;X57847;X58100;Y11493;Y17754 AAA51766;AAB21330;AAH20703;AAH26283;AAP72014;ABM82288;ABM85468;ADJ96598;BAG36570;BAG60642;CAA37664;CAA40977;CAA41113;CAA72279;CAA76845;EAW89012;EAW89013;NP_000033;P02749 Hs.445358 1659327;1668814;1742779;2125541;5111925 G43003;GDB:206667;RH11628;RH47133;RH66220 B2G1;B2GP1;BG APC inhibitor;B2GPI;activated protein C-binding protein;anticardiolipin cofactor;apo-H;beta(2)GPI;beta-2-glycoprotein 1 APPROVED protein-coding ENSG00000091583 616 00728 138700 REVIEWED 1348736 APOL1 apolipoprotein L, 1 This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 22 22 q13.1 34979070 34993523 + 36649117 36663577 + 1580863;6480464;6907045;7240710 16020735;12621437;17192540;19324878;19239905;18927493;18850207;18632255;18505729;17845074;17360487;16344560;16335952;15949655;15604524;15500911;15489334;14718574;12837283;12477932;11944986;11374903;11290834;10946010;10591208;9325276;20647424;17154273;20483474;20635188;19913121;20602615;20628086;20668430;20855565;21080072;22695330;21997392;21997394;21997396;21997397;21997398;21537348;22691369;21698141;21486385;21968148;20805508;21910715;21931123;22569246;22119407;22135313;22357707;22239288;22495294;22878977;23300552;23520206;22832513;23107266;23082501 8542 B1AH94;B1AH95;B1AH96;F8WB77;F8WCH3;G8JL88;Q2KHQ6;Q96PM4 ABBA01055436;ABBA01055437;AF019225;AF305224;AF305428;AF323540;AF323548;AK296099;AK298053;AK300454;AK303919;AK309143;AK313752;AMYH01012749;BC017331;BC112943;BC113867;BC114475;BC127186;BC141823;BC142720;BC143038;BC143039;BG419709;CH471095;DA375861;DC340792;DC367266;NG_023228;NM_001136540;NM_001136541;NM_003661;NM_145343;Z82215 AAB81218;AAG53690;AAI12944;AAI13868;AAI14476;AAI27187;AAI41824;AAI42721;AAI43039;AAI43040;AAK11591;AAK20210;AAL09358;BAG36492;BAG58852;BAG60347;BAG62174;BAG64847;EAW60090;EAW60091;EAW60092;EAW60093;EAW60094;NP_001130012;NP_001130013;NP_003652;NP_663318;O14791 Hs.114309 1677500;1729195;1733232;1733244;1795368;1846818;2130419;5014051;5016700;5021872;5022200;5022578;5037552;5109281 APOL2_299.2;D1S1423;D1S1425;D22S541;D22S549;D22S550;D22S592;D8S2278;D8S2279;L18426;RH79802;RH80142;UniSTS:146582;sY3084 APO-L;APOL;APOL-I;FSGS4 OTTHUMP00000028705;OTTHUMP00000197952;OTTHUMP00000197984;OTTHUMP00000197985;OTTHUMP00000197986;OTTHUMP00000197987;OTTHUMP00000198062;apolipoprotein L-I;apolipoprotein L1 2314778 GLUCO97_H APPROVED protein-coding ENSG00000100342 618 04774 603743;612551 REVIEWED 736378 APOE apolipoprotein E Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. 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348 E7ERP7;E9PEV4;H0Y7L5;P02649 AB035149;ABBA01040892;AC011481;AF050154;AF261279;AK314898;AMYH01009845;AMYH01009846;AY077451;BC003557;BU848796;CH471126;FJ525876;K00396;M10065;M12529;NG_007084;NM_000041;X00199;X92000;Z70760 AAB59397;AAB59518;AAB59546;AAD02505;AAG27089;AAH03557;AAL82810;ABM83474;ABM86685;ACN81314;BAA96080;BAG37412;CAA25017;CAA63051;CAA94806;EAW57306;NP_000032;P02649 Hs.654439 1341236;1658651;1740879;1740895;1741019;1741151;1741655;1741669;1742423;1744161;1744223;1791614;1794296;1794298;1794300;1794302;1795160;2131438;2176691 D19S571;GDB:169570;GDB:171177;GDB:177380;GDB:178385;GDB:181631;GDB:181693;GDB:196979;GDB:433407;GDB:438097;PMC117303P1;PMC310963P1;PMC310963P2;PMC310963P3;PMC310963P4;PMC99927P2;RH11470;STS-K00396;STS-N29699 AD2;LDLCQ5;LPG;MGC1571 OTTHUMP00000159143;OTTHUMP00000197075;OTTHUMP00000197076;OTTHUMP00000197077;apo-E;apolipoprotein E;apolipoprotein E3 1643251 BW139_H APPROVED protein-coding ENSG00000130203 613 00135 104310;107741;269600;603075;611771 REVIEWED 1343358 APOL4 apolipoprotein L, 4 The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq, Jul 2008] 22 22 22 q11.2-q13.2 20387749 20403452 - 34915122 34930825 - 36585176 36600879 - 1580863;6480464;7240710 11944986;18632255;15949655;15461802;12477932;11374903;11290834;8125298 80832 B1AHI7;B1AHI8;B1AHJ0;B1AHJ2;B1AHJ3;E9PS31;F5H1P9;J3KNR9;Q9BPW4;Q9BRG6 ABBA01055436;AF305226;AK225696;AK290466;AK290777;AK311506;AK312716;AK313637;AMYH01012749;AY014913;AY014914;AY014915;BC004150;BC006276;BC010131;BC017313;CH471095;CR456380;NG_023437;NM_030643;NM_145660;Z95114 AAG50350;AAG50351;AAG50352;AAG50353;AAH06276;AAI56832;AAK20212;ACE86467;ACE87148;BAF83155;BAF83466;BAG35591;CAG30266;CAK54369;CAK54668;EAW60084;EAW60085;EAW60086;NP_085146;NP_663693;Q9BPW4 Hs.115099 1689763;1795372;5108114;5124355 APOL4_713;DXS429;RH80419;RH91879 APOL-IV;APOLIV OTTHUMP00000198064;OTTHUMP00000198065;OTTHUMP00000198067;OTTHUMP00000198068;OTTHUMP00000198069;OTTHUMP00000232518;apolipoprotein L-IV;apolipoprotein L4 2314778 GLUCO97_H APPROVED protein-coding 14867 16237 181500;607254 REVIEWED 1315120 APOL3 apolipoprotein L, 3 This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 6. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 22 22 22 q13.1 20338943 20364799 - 34866323 34892171 - 36536371 36562225 - 1580863;6480464 10233894;12761501;16806233;16344560;15461802;12477932;11944986;11930015;11374903;11290834;10591208;20602615;20631155;20237496;20379614 80833 F2Z2M3;H0YCT0;H0YD32;H0YDH5;H0YDW3;H0YEJ6;H0YEQ0;H7BYQ5;O95236 ABBA01055436;AF070675;AF305227;AF324238;AK025349;AMYH01012749;AY014902;AY014903;AY014904;AY014905;AY014906;AY014907;BC038352;BC042918;BC050596;BF797347;CH471095;CR456379;DA878288;NM_145640;NM_145641;NM_145642;NR_027833;NR_027834;NR_027835;Z95114 AAC83233;AAG50344;AAG50345;AAG50346;AAG50347;AAG50348;AAG50349;AAH42918;AAH50596;AAK20213;AAK26527;AAK26528;AAK26529;CAG30265;CAK54368;CAK54667;EAW60080;EAW60081;EAW60082;EAW60083;NP_663615;NP_663616;NP_663617;O95236 Hs.474737 1653343;1692226;1795370 A008R30;AL033769;APOL3_301 APOLIII;CG121 CG12_1;OTTHUMP00000198071;OTTHUMP00000198072;OTTHUMP00000198073;TNF-inducible protein CG12-1;apoL-III;apolipoprotein L-III;apolipoprotein L3 APPROVED protein-coding ENSG00000128284 14868 06264 607253 REVIEWED 7246228 APOOP1 apolipoprotein O pseudogene 1 100286948 ABBA01044278;AC008491;AMYH01015740;NG_029196 pseudo 48739 INFERRED 7246281 APOOP2 apolipoprotein O pseudogene 2 100129005 ABBA01004630;AC116546;AMYH01013324;NG_012899 pseudo 48740 INFERRED 7246214 APOOP3 apolipoprotein O pseudogene 3 100131528 ABBA01026592;AC026124;AMYH01004551;NG_012898 pseudo 48741 INFERRED 1320008 APOL2 apolipoprotein L, 2 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12 20424825 20438568 - 34952201 34965946 - 36622255 36636000 - 1580863;6480464;7240710 11374903;11944986;18632255;15949655;15489334;14702039;12477932;11290834;10591208;7566098;20602615;15107424;20665705;21987572;21906983;22505724 23780 B0QYK8;E9PM95;J3KQL8;Q9UH10 AB208990;ABBA01055436;AF305225;AF305429;AF324223;AF324224;AF324230;AK056938;AK303978;AL031426;AMYH01012749;BC004395;CH471095;NG_023229;NM_030882;NM_145637;Z82215;Z95114 AAH04395;AAK11592;AAK11593;AAK11598;AAK20211;AAL09359;ABM84357;ABM87743;BAB71315;BAD92227;BAG64897;EAW60087;EAW60088;EAW60089;NP_112092;NP_663612;Q9BQE5 Hs.474740 1338963;1677500;1733244;1795368;1795370;1858345;2130419;2159350 AL021679;APOL2_299.2;APOL3_301;D22S1173;D22S541;D22S592;D22S924;RH80142 APOL-II;APOL3 OTTHUMP00000198078;OTTHUMP00000198079;OTTHUMP00000198080;OTTHUMP00000235928;apolipoprotein L-II;apolipoprotein L2 APPROVED protein-coding ENSG00000128335 619 06263 181500;607252 REVIEWED 7246620 APOOP4 apolipoprotein O pseudogene 4 9847074 100128725 ABBA01022909;AC074378;AC098799;AMYH01014255;NG_012897 pseudo 48742 INFERRED 7246270 APOOP5 apolipoprotein O pseudogene 5 23251661 644649 ABBA01025325;AC026457;AI016649;AMYH01007722;BX108667;NR_028471 Hs.250392;Hs.729577 pseudo 48743 PROVISIONAL 1604585 APOLD1 apolipoprotein L domain containing 1 APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008] 12 12 12 p13.1 18027373 18093110 + 12829882 12835664 + 12878851 12944400 + 6480464 12477932;16381901;16344560;15489336;15489334;15102925;14702039;11230166;11076863;8125298;19913121;20628086 81575 A0AVN6;Q96LR9 ABBA01067848;ABBA01067849;ABBA01067850;ABBA01067851;AC007215;AC008115;AK024963;AK225176;AK314392;AL136783;AMYH01004292;BC042478;BC126433;BC126435;CH471094;DA405367;DC413327;NM_001130415;NM_030817 AAH42478;AAI26434;AAI26436;BAG37017;CAB66717;CAL38261;EAW96278;EAW96279;NP_001123887;NP_110444;Q96LR9 Hs.23388;Hs.719938 1697084;1733594;2117357;2124779;5037552 BCD2161;D12S927;D8S2279;RH102024;SHGC-32548 DKFZp434F0318;FLJ25138;FLJ95166;VERGE OTTHUMP00000204109;OTTHUMP00000204110;apolipoprotein L domain-containing protein 1;vascular early response gene protein APPROVED protein-coding ENSG00000178878 25268 13153 612456 VALIDATED 1353798 APOL6 apolipoprotein L, 6 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 19847673 19867704 + 34374370 34394402 + 36044424 36064456 + 1580863;6480464 11374903;19299565;18571626;15671246;15489334;15461802;14702039;12975309;12477932;10591208;9828130;8889548;21646352;22505724;22632162 80830 B3KTP4;Q9BWW8 ABBA01055424;AJ227900;AK074645;AK095881;AK097266;AL049747;AL834420;AMYH01012745;AY014879;AY358210;BC038950;BC047864;BM023524;BM982940;BU585026;CH471095;CR456381;FJ177991;NM_030641;Z79996 AAH38950;AAH47864;AAK07724;AAQ88577;ACN51253;BAC11109;BAG53156;CAG30267;CAH56356;CAK54370;CAK54669;EAW60069;NP_085144;Q9BWW8 Hs.257352 1674363;1735048;1795374;5022450 APOL6_715;D10S275;D22S977E;WI-19821 APOL-VI;APOLVI;DKFZp667M075;FLJ38562;FLJ90164;MGC57495 OTTHUMP00000197934;apolipoprotein L-VI;apolipoprotein L6 APPROVED protein-coding 14870 06266 607256 REVIEWED 1351807 APOM apolipoprotein M The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012] 6 6 p21.33 31731650 31733966 + 31620187 31625987 + 1580863;2314236;2314238;2314241;2314248;2314249;6480464 19539616;17674965;16516154 17154273;19100249;19733574;19767535;19836008;19932694;19932739;16682745;15793583;18006500;10531326;19200746;19007767;18835879;18652652;18490703;18460466;18381283;18338076;18279674;18054359;17977826;17973931;17557255;17525477;17112825;17022639;16572495;16335952;15904876;15542348;15489334;15172102;15147633;14656967;14633861;14574404;12666989;12477932;11944906;11418126;8812450;16169070;21454713;20080084;21122852;19913121;20602615;20628086;20846402;20660599;17207965;20828695;19796793;20872094;21606363;21390319;22826357;22877565;21875437;15146197;22204862;21844665;21944699;22516753;23190940;18978787;19654303;23086303 55937 O95445;Q5SRP5 AA476324;AA846749;ABBA01038084;AF118393;AF129756;AF161454;AJ245434;AL662801;AL670886;AL805934;AMYH01016217;BA000025;BC020683;BF344944;BG564719;BX511262;CB054016;CH471081;CN428415;CR354443;CR753842;CR759761;CS185541;NM_001256169;NM_019101;NR_045828 AAD11443;AAD18084;AAF29014;AAH20683;ADQ32214;BAB63389;CAB51604;CAJ42722;EAX03461;EAX03462;EAX03463;EAX03464;NP_001243098;NP_061974;O95445 Hs.534468 1686830;1717479;2175166 A007I39;RH122245;RH92454 G3a;HSPC336;MGC22400;NG20;apo-M NG20-like protein;OTTHUMP00000029364;OTTHUMP00000029365;OTTHUMP00000029366;alternative name: G3a, NG20;apo-M;apolipoprotein M;protein G3a APPROVED protein-coding ENSG00000204444 13916 06068 606907 REVIEWED 1603962 APOO apolipoprotein O This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009] X X X p22.11 27970217 28043546 - 23761391 23835958 - 23851465 23926057 - 6480464 21319273;19204726;18029348;16956892;15489334;12975309;12477932;19913121;20628086;20877300;22693255 79135 C9J574;G3V1B6;H7C1U8;Q9BUR5 AA410995;ABBA01072242;ABBA01072243;ABBA01072244;ABBA01072245;ABBA01072246;ABBA01072247;ABBA01072248;ABBA01072249;ABBA01072250;ABBA01072251;ABBA01072252;ABBA01072253;ABBA01072254;ABBA01072255;ABBA01072256;ABBA01072257;ABBA01072258;AC079376;AC131011;AF061264;AK311865;AMYH01022155;AMYH01022156;AY359114;BC002333;BC010102;BC016814;BX099786;CH471074;DB466960;EL951748;NG_013219;NM_024122;NR_026545 AAG43139;AAH02333;AAH10102;AAH16814;AAQ89472;BAG34806;EAW99001;EAW99002;EAW99003;EAW99004;NP_077027;Q9BUR5 Hs.495851 FAM121B;MGC4825;MYO25;My025 OTTHUMP00000023072;OTTHUMP00000023073;apolipoprotein O;brain my025;family with sequence similarity 121B APPROVED protein-coding ENSG00000184831 28727 06657 300753 REVIEWED 1351827 APOOL apolipoprotein O-like This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011] X X X q21.1 84498355 84587725 + 84145561 84231643 + 84258898 84348323 + 6480464 18029348;15772651;15489334;14702039;12975309;12477932;10737800;22118674 139322 Q6UXV4 ABBA01051632;ABBA01051633;ABBA01051634;ABBA01051635;ABBA01051636;ABBA01051637;ABBA01051638;ABBA01051639;ABBA01051640;ABBA01051641;ABBA01051642;AK096909;AK130506;AMYH01022660;AY358193;BC107095;BC107096;BE328646;BI038188;CH471104;CR749250;NG_021245;NM_198450;Z83820;Z99571 AAI07097;AAQ88560;CAH18106;EAW98568;NP_940852;Q6UXV4 Hs.512181;Hs.729014 1702296;1847583;1858566;2138884;2142960;2146703;2184770;5015961 A006S21;AL022453;D15S1477;DXS326;DXS6994E;DXS8341;SHGC-33825;SHGC-63599 CXorf33;FAM121A;MGC129748;UNQ8193 AAIR8193;OTTHUMP00000023621;apolipoprotein O-like;chromosome x open reading frame 33;family with sequence similarity 121A APPROVED protein-coding 24009 16775 REVIEWED 1312327 APOPT1 apoptogenic 1, mitochondrial 14 14 14 q32.33 84083545 84111477 + 103099084 103128277 + 104029299 104057236 + 6480464 16782708;15489334;15342556;12477932;8125298;20877624;18977203;21906983 84334 H0YJ38;H0YJK3;H0YJM4;H7BZ67;H7C2Z1;Q96IL0 ABBA01048419;ABBA01048420;ABBA01048421;ABBA01048422;AK223092;AK223103;AL139300;AMYH01006048;BC007412;BP317962;CA443899;CH471061;NM_032374 AAH07412;BAD96812;BAD96823;EAW81829;EAW81830;EAW81831;NP_115750;Q96IL0 Hs.598441 1672526;1673896;1683769;2119433;2120543;2158846;2161128;2180864;5016478;5020274;5020946;5020948;5022463;5022578;5022651 D11S2921;D1S1423;D3S1673;G35465;G35510;G35514;G36164;G36166;GDB:434012;L17971;L18441;RH41848;RH48201;RH69467;RH94158 APOP1;C14orf153;MGC2562 OTTHUMP00000204662;UPF0671 protein C14orf153;apoptogenic 1;apoptogenic protein 1;apoptogenic protein 1, mitochondrial;chromosome 14 open reading frame 153;hypothetical protein LOC84334 APPROVED protein-coding 20492 12637 VALIDATED 736021 APP amyloid beta (A4) precursor protein This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 q21.3 26174732 26465003 - 27252861 27543446 - 1300048;1599199;6480464;6484113;6907045;7240710 16369530 20043810;20043812;20051356;21167219;17448150;12586836;21805181;22009041;22461629;22547976;22660329;10681545;16193067;16286452;10652580;11279603;15910549;17727819;17725929;17701472;17694066;17687027;17686533;17684015;17675890;17659280;17651731;17651693;17636872;17634293;17632276;17632272;17611268;17601350;17595112;17586478;17573534;17573346;17548355;17545160;17537517;17536186;17522316;17514422;17481654;17468104;18851978;18843496;18842294;18840503;18835787;18833287;18819917;18815129;18813964;18806919;18794492;18786140;18765933;18762245;18759497;18755980;18722509;18706476;18702528;18679696;18675254;18667258;18662767;18599641;18599481;18597778;18596605;18585350;18583625;18574238;18573216;18568035;18559276;18555606;18541797;18535375;18521746;18521005;18515161;18513119;18512251;18497889;18497881;18485495;18483477;18483195;18480379;18468999;18467692;18463498;18456655;18442979;18438935;18437002;18434187;18430735;18430556;18426795;18424782;18422760;18413480;18413473;18411275;18408165;18405662;18403114;18403054;18397883;18376127;18374657;18373737;18358666;18353773;18353662;18349519;18322381;18322377;18322375;18322372;18320103;18317569;18313326;18309230;19225519;18029348;2110384;10806211;19657023;19519498;19515914;19505377;19457132;19457079;19450545;19435461;19422822;19416886;19414017;19387667;19380826;19369541;19366692;19363265;19362074;19358576;19346482;19342591;19338344;19320465;19318086;19306298;19302985;19295151;19286555;19282754;19281847;19280202;19272356;19264960;19251705;19242475;19240061;19239106;19228947;19218342;19216516;19204155;19185603;19184666;19170767;19170186;19167357;19166938;19166823;19164507;19154786;19144826;19139910;19126676;19126407;19115126;19101630;19101527;19097908;19096157;19093876;19074441;19074428;19062178;19057576;19056463;19050078;19028695;19015532;19008223;18977241;18974993;18974093;18955727;18955571;18940800;18936252;18922798;18854169;7593229;18304576;18301778;18300294;18291688;18288607;18284028;18283248;18276590;18263584;18248325;18234670;18234110;18224425;18216187;18215070;18201969;18201567;18187157;18184372;18182389;18164313;18163181;18162558;18096514;18089558;18068270;18055545;18053619;18045146;18043715;18040846;18032553;18028874;18026102;18026100;18021806;17997700;17986385;17979527;17959829;17951083;17945434;17940047;17929832;17929129;17914261;17912358;17909280;17905305;17890228;17881287;17873282;17855370;17855343;17785178;17767011;17763155;17761425;17760842;14690498;14687578;14676049;14663182;14659754;14615541;14557245;14550290;14527950;14525989;14523627;14507922;12972252;12960155;12958194;12944403;12925374;12921787;12917434;12900421;12895653;12895507;12893827;12888553;12874400;12867422;12859342;12824062;12815102;12799176;12796495;12782964;12763021;12754201;12730216;12716908;12702875;12697936;12670422;12665801;12659848;12654973;12653567;12645527;12627474;12626500;12611883;16608822;16595682;16555084;16552500;16551656;16541076;16536739;16508101;16505331;16490783;16489755;16485107;16480949;16469300;16467370;16456666;16449801;16436282;16434391;16432277;16432204;16432203;16432149;16423463;16407538;16401644;16374483;16368544;16354928;17446087;17442758;17427190;17416970;17412506;17405936;17405931;17405930;17405928;17393484;17368826;17360908;17360894;17339876;17335780;17332749;17328898;17325276;17319802;17307738;17268504;17264078;17255094;17251431;17234594;17233641;17229472;17215111;17207630;17192425;17168650;17151277;17150042;17141269;17132139;17115426;17113271;17113167;17112637;17098805;17095738;17093061;17056594;17056255;17054906;17048876;17046756;17028131;17012232;17005855;16965061;16947080;16940437;16935943;16924555;16920151;16909010;16906128;16902091;16893414;16887805;16878983;16877355;16865398;16856153;16849336;16846375;16837572;16816122;16815330;16789686;16788822;16785251;16735229;16728400;16705182;16698938;16698128;16685645;16672766;16651889;16651627;16648485;16634632;16344478;16339026;16337035;16335952;16303768;16301330;16301322;16298992;16282321;16267229;16263715;16258386;16252002;16215229;16210396;16201761;16195918;16354549;16344553;16186172;16182533;16178030;16139931;16135089;16129700;16127459;16125396;16109164;16101387;16098972;16095541;16086583;16079141;16053447;16052209;16046408;16027166;16002400;15987951;15987892;15985437;15983050;15975068;15967987;15964569;15959846;15946122;15936948;15923191;15909112;15896298;15895461;15880353;15855647;15855271;15837590;15824110;15809056;15778502;15776278;15772078;15769509;15485850;15474359;15459202;15452132;15452128;15451372;15450086;15385569;15365148;15347684;15347683;15342738;15316009;15294142;15282285;15274612;15255950;15251450;15251442;15234966;15233804;15208267;15208260;15203119;15201367;15197182;15184603;15182369;15178331;15161650;15158161;15126508;15123740;15087549;15087467;15084524;15073156;15059642;15053925;15044485;15037614;15036614;15033805;15013569;15004329;14993906;14992810;14985339;14983046;14978032;14970211;14871891;14769392;14724276;14722157;14699153;14699107;15764367;15755672;15748844;15728175;15722360;15718037;1570556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351 B4DGD0;B4DJT9;E9PEV0;E9PG40;H7C0V9;H7C104;H7C2L2;Q8WZ99 A02759;AB066441;ABBA01057213;ABBA01057214;AF282245;AK294534;AK295373;AK295621;AK296229;AK297229;AK297412;AK298861;AK311717;AK312326;AMYH01012174;AMYH01012175;AMYH01012176;AP001439;AP001440;AP001441;AP001442;AP001443;AY011354;AY919674;BC004369;BC065523;BC065529;BE907745;BI559391;BM172428;BM876312;CB854706;CH471079;CS275872;CS365133;CS448142;CS448144;CS448146;CS448164;CS448166;CS448168;D87675;DC336035;M15532;M15533;M16765;M18734;M24546;M28373;M29270;M33112;M34862;M34863;M34864;M34865;M34866;M34867;M34868;M34869;M34870;M34871;M34872;M34873;M34874;M34875;M34876;M34877;M34878;M34879;M35675;M37896;NG_007376;NM_000484;NM_001136016;NM_001136129;NM_001136130;NM_001136131;NM_001204301;NM_001204302;NM_001204303;NM_201413;NM_201414;S41243;S45136;S60317;S60721;S61380;S61383;X06981;X06982;X06989;X13466;Y00264 AAA35540;AAA51564;AAA51722;AAA51726;AAA51727;AAA51768;AAA58727;AAA60163;AAB23646;AAB26263;AAB26264;AAB26265;AAB59501;AAB59502;AAC13654;AAC60601;AAG47389;AAH04369;AAH65529;AAQ14327;AAW82435;ACE87808;ACT64482;BAA22264;BAB71958;BAG35248;BAG57741;BAG58500;BAG58951;BAG59712;BAG59847;BAG60983;BAH12049;CAA00268;CAA30041;CAA30042;CAA30050;CAA31830;CAA68374;CAJ84410;CAL33835;CAL69791;CAL69792;CAL69795;CAL69796;CAL69831;CAL69838;EAX09957;EAX09958;EAX09959;EAX09960;EAX09961;EAX09962;EAX09963;EAX09964;EAX09965;EAX09966;NP_000475;NP_001129488;NP_001129601;NP_001129602;NP_001129603;NP_001191230;NP_001191231;NP_001191232;NP_958816;NP_958817;P05067 Hs.434980 1336950;1337535;1649514;1652599;1661001;1661622;1664158;1668576;1696304;1696470;1706634;1709202;1718237;1722475;1735040;1741331;1741769;1741771;1743209;1768358;1770220;1784470;1784472;1791324;1795376;2113700;2116162;2118152;2122353;2129618;2153841;2155185;2157100;2158874;2163359;2166282;2175501;2181117;5117600;5120041;7183785 APP;APP_48;D21S1253;D21S1443;D21S1732E;D21S1857;D21S1968;D2S2243;G09932;G34719;G34787;G60161;GDB:180723;GDB:185158;GDB:185159;GDB:192308;GDB:303952;GDB:585471;PMC102624P1;RH122888;RH67934;RH77727;SHGC-170150;SHGC-170152;SHGC-51936;SHGC-51938;SHGC-51939;SHGC-51941;SHGC-51942;SHGC-51944;SHGC-51945;SHGC-52109;SHGC-52131;SHGC-58300;SHGC-77728;SHGC-79795;SHGC-82798;SHGC-85780;WI-18826;WIAF-1682 AAA;ABETA;ABPP;AD1;APPI;CTFgamma;CVAP;PN-II;PN2 OTTHUMP00000096095;OTTHUMP00000096096;OTTHUMP00000096097;OTTHUMP00000096098;OTTHUMP00000225525;PN-II;alzheimer disease amyloid protein;amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease);amyloid beta (a4) precursor protein;amyloid beta A4 protein;beta-amyloid peptide;cerebral vascular amyloid peptide;peptidase nexin-II;preA4;protease nexin-II APPROVED protein-coding ENSG00000142192 620 00100 104300;104760;605714 REVIEWED 1315134 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. This gene has been found to be highly expressed in breast cancer. Multiple polyadenylation sites have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 57621010 57704071 - 55875302 55958362 - 58520520 58603580 - 1580863;6480464 9843960;11742091;16189514;15489334;12915535;12477932;11331760;11034067;9039502;21145461;14729952;19060904;19176879;16196087;18187417;21139048;21890473;21906983 10513 K7EIZ9;K7EN61;K7ENN3;Q92624 ABBA01035408;AC011921;AC037475;AF017782;AK292227;AK307666;AL157428;AMYH01008529;BC018121;CH471179;D86981;NM_006380 AAC83973;AAH18121;BAA13217;BAF84916;EAW51406;EAW51407;NP_006371;Q92624 Hs.84084 1705024;1774237;1794294;2126791;2155789;2218236;5015867;5022450;5022578;5022588;5109281 APPBP2__4343;D10S275;D1S1423;D1S1425;D5S1597E;GDB:312714;PMC310943P1;RH12422;RH25434;RH45824;SHGC-78028 HS.84084;KIAA0228;PAT1 APP-BP2;amyloid beta precursor protein-binding protein 2;amyloid protein-binding protein 2;protein interacting with APP tail 1 APPROVED protein-coding ENSG00000062725 622 05616 605324 REVIEWED 1607055 APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008] 3 3 p21.1-p14.3 57236805 57282539 + 57261765 57307499 + 6480464;6907045 10490823;12011067;15016378;17848569;18632660;18581887;18307981;18034774;17581628;17502098;17490420;17287464;17030088;16622416;16189514;15489334;15345747;15302935;15070827;12621049;12477932;12168954;10718198;22340213;22379109;20600589;20978232;21285318;19433865;19520843;19686092;20095645;20484574;20814572;20412119;20875820;21320486;19322201;21291857;16751776;23246927;23752268;23762377;23291133;23383273;22863883;21645192;21926268;21562756;22037462;21835890;20639865;21139048;21890473;21906983;16273093;19060904;21963094;21988832;22685329;23055524;22685300;15196694;22053931;22505724 26060 C9JAB0;C9K0C4;Q9UKG1 AB037849;ABBA01024422;ABBA01024423;ABBA01024424;AC093928;AF169797;AF424738;AK299008;AK310716;AMYH01013220;BC010911;BC028599;CH471055;NM_012096 AAF04012;AAH28599;AAL17835;ADZ15518;BAA92666;BAG61090;EAW65335;EAW65336;NP_036228;Q9UKG1 Hs.476415 APPL;DIP13alpha AKT2 interactor;DCC-interacting protein 13-alpha;OTTHUMP00000165214;adapter protein containing PH domain, PTB domain and leucine zipper motif 1;adaptor protein containing pH domain, PTB domain and leucine zipper motif 1;dip13-alpha;signaling adaptor protein DIP13alpha APPROVED protein-coding ENSG00000157500 24035 05053 604299 REVIEWED 1605653 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011] 12 12 12 q24.1 105231366 105294273 - 104091205 104154138 - 105567075 105630008 - 6480464 22462604;15016378;18034774;17030088;16622416;16189514;15489334;14702039;12477932;11431708;19433865;20814572;22340213;23055524;22863883;21645192;22989406;23455924;21044950 55198 F8VR68;F8VS86;F8VWV2;F8VXB0;F8W124;H0YH86;Q8NEU8 ABBA01053186;AC016257;AC078874;AK001521;AK290562;AK293783;AK296610;AK297100;AK310377;AMYH01004719;AY113704;BC028008;BC033731;CH471054;DN993818;NG_030419;NM_001251904;NM_001251905;NM_018171 AAH33731;AAM55530;ABM83033;ABM86227;BAF83251;BAG50931;BAH11594;BAH12397;BAH12496;EAW97762;EAW97763;EAW97764;NP_001238833;NP_001238834;NP_060641;Q8NEU8 Hs.506603 1340494;1644974;1690302;2124799 D12S317;RH44961;SHGC-3540;STS-R77239 DIP13B;FLJ10659 DCC-interacting protein 13-beta;DIP13 beta;OTTHUMP00000242288;OTTHUMP00000242289;OTTHUMP00000242290;adapter protein containing PH domain, PTB domain and leucine zipper motif 2;adaptor protein containing PH domain, PTB domain and leucine zipper motif 2;dip13-beta APPROVED protein-coding ENSG00000136044 18242 06945 606231 REVIEWED 70369 AQP1 aquaporin 1 (Colton blood group) Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 7 7 p14 30917993 30931656 + 30951415 30965131 + 734971;2307072;2312795;2307071;2316076;2316077;2316078;5148011;5148031;5148033;5148029;5148013;6480464;5490120;6907045 9468475;18248364;19096774;18988797;19748503;19619613;19596320;21135737;20156423;21560328;20383338;21092735;21487926 16574458;1722319;7521540;18841368;18575775;18563339;18544259;18538351;18510579;18509662;18392839;18349152;18313673;18282122;18280225;18275976;18247144;18202181;18080132;18067501;18052958;17898873;17894331;17890385;17854859;17632520;17549682;17409744;17408468;17273788;17077939;17012249;16871401;16814974;16698771;16534779;16515633;16481371;16344560;16300893;16189514;15847654;15809704;15783300;15667881;15502805;15489334;15135660;15024704;14753494;14753493;14701836;14592814;14514735;12853948;12781664;12690205;12498798;12477932;12399631;12237771;12137754;12027013;12002613;11922632;11909995;11884383;11780053;11532455;11408278;11171962;11097616;11034202;10873606;10872456;10839360;10559675;9177353;8703970;8576117;8340403;7693713;7677994;7540589;7532004;7521882;7518771;7517546;7517253;7514605;7507481;3166547;3049610;2007592;1373524;21271497;22269467;17545093;11914159;12051745;12172703;12522663;12766090;12801959;14561230;14675051;15727941;16133142;16565507;16682607;16711029;17636236;17645239;18617525;18665841;19253825;19268465;19273840;19306058;19424603;19447967;19472194;19545896;19584911;19619954;19726340;19772916;19787701;20063900;20101282;20360993;20424473;20431033;7491270;7544358;8584435;9013443;9096382;9321919;20739606;21063116;20806077;21107133;20149606;20578142;20461409;20795314;20828513;12745312;20969805;20409716;19913121;20628086;20628061;17511167;17219999;19522191;19670620;21237499;21252246;21360438;20965731;22901156;22901921;15563082;21244858;21373963;21784068;21760919;20137115;23332061;21612401;23029502;23317544;19080511;21395179;21551254;21793635;21896312;22334691;21839760;22006723;22472942;22093331;22372348;22310126;22396660;23313295;21538271;19060904;22964306;23219802;23393355;22348807;23220481;23361277;23450058 358 B4E220;P29972 AACC02000087;AB451275;AB451402;ABBA01056814;AC004691;AC005155;AF480415;AK298091;AK298313;AK300995;AK301351;AK304684;AK309608;AK309688;AK309691;AK312656;AMYH01017151;AU122128;AY312580;AY312581;AY953319;BC022486;BC141905;BI837828;CH471073;DA197236;DA712111;M77829;NG_007475;NM_001185060;NM_001185061;NM_001185062;NM_198098;S73482;U41517;U41518 AAA58425;AAB31193;AAC16481;AAC23788;AAC50648;AAC50649;AAH22486;AAL87136;AAR16185;AAR16186;AAX24129;ABM83292;ABM86501;BAG35539;BAG60376;BAG60567;BAG62614;BAG62897;BAG65455;BAG70089;BAG70216;EAL24446;EAW93971;EAW93972;NP_001171989;NP_001171990;NP_001171991;NP_932766;P29972 Hs.76152 1646166;1660423;1666089;1745047;1789542;1789544;1789546;1856857;2125487;2142236;2143454;2152787 A007C48;AQP1;D7S2041E;D7S2065E;D7S2755;G68146;G68147;G68149;GDB:593256;STS-M77829;T03581;WI-9113 AQP-CHIP;CHIP28;CO;MGC26324 AQP-1;Colton blood group;OTTHUMP00000123398;OTTHUMP00000202461;OTTHUMP00000202462;aquaporin 1;aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group);aquaporin-1;aquaporin-CHIP;channel-like integral membrane protein, 28-kDa;urine water channel;water channel protein for red blood cells and kidney proximal tubule APPROVED protein-coding ENSG00000240583 633 00140 107776;110450 REVIEWED 1606553 APTX aprataxin This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] 9 9 p13.3 32962608 32991626 - 32972604 33001639 - 6480464;7240710 16547001;16964241;17276982;17519253;15044383;14755728;16777843;19103743;18836178;18202221;17572444;17485165;17240329;17049295;16713569;16439205;15852392;15790557;15719174;15699391;15596775;15555565;15489334;15380105;15365154;15276230;15164193;15164053;14702039;14534929;14506070;12629250;12477932;12196655;12119013;11586300;11586299;11170899;7891378;7782601;3239952;20399152;20371676;16344560;19953284;19561170;19643912;19861517;19960345;19759913;20301629;15367657;21412945;21486904;21502511;21984210;21465257 54840 C9J8U3;C9JZ40;E7EUY4;E7EVB7;F8W6G5;F8WBD6;F8WBM3;Q6JV79;Q9NXM5 AA494365;AB603741;ABBA01065073;ABBA01065074;ABBA01065075;AJ565850;AJ565851;AJ565852;AJ565853;AJ565854;AJ565855;AJ575566;AK000164;AK055672;AK131046;AL162590;AL353717;AMYH01019321;AY040777;AY208829;AY208830;AY208831;AY208832;AY208833;AY208834;AY208835;AY208836;AY208837;AY208838;AY208839;AY208840;AY208841;AY208842;AY302067;AY302068;AY302069;AY302070;AY302071;AY302072;AY302073;AY302074;BC001628;BC032650;BC068107;BC104881;BQ957536;BX538161;CA429601;CH471071;CS185575;DA664623;DB042208;NG_012821;NM_001195248;NM_001195249;NM_001195250;NM_001195251;NM_001195252;NM_001195254;NM_175069;NM_175073;NR_036576;NR_036577;NR_036578;NR_036579 AAH01628;AAH32650;AAI04882;AAK91768;AAP86319;AAP86320;AAP86321;AAP86322;AAP86323;AAP86324;AAP86325;AAP86326;AAP86327;AAP86328;AAP86329;AAP86330;AAP86331;AAP86332;AAQ74130;AAQ74131;AAQ74132;AAQ74133;AAQ74134;AAQ74135;AAQ74136;AAQ74137;ADZ15765;BAA90985;BAG51552;BAK31015;CAD92454;CAD92455;CAD92456;CAD92457;CAD92458;CAD92459;CAD98041;CAE01427;CAJ42756;EAW58528;EAW58529;EAW58530;EAW58531;EAW58532;EAW58533;EAW58534;EAW58535;NP_001182177;NP_001182178;NP_001182179;NP_001182180;NP_001182181;NP_001182183;NP_778239;NP_778243;Q7Z2E3 Hs.20158 1765209;1846773;2121424;2163437;2174527;2174529;5020753;5093580 A005Z44;A009S13;G20636;G32803;RH16252;RH46890;SHGC-148705;SHGC-34030 AOA;AOA1;AXA1;EAOH;EOAHA;FHA-HIT;FLJ20157;MGC1072 OTTHUMP00000021189;OTTHUMP00000021190;OTTHUMP00000215291;OTTHUMP00000215292;OTTHUMP00000215296;OTTHUMP00000215302;OTTHUMP00000215305;OTTHUMP00000215306;OTTHUMP00000215307;OTTHUMP00000215310;aprataxin;forkhead-associated domain histidine triad-like protein APPROVED protein-coding ENSG00000137074 15984 05892 208920;606350 REVIEWED 1346803 AQP12A aquaporin 12A 2 2 2 q37.3 235289033 235295670 - 241279935 241286573 + 241631262 241637900 + 1580863;6480464 15809071 375318 C9J6F6;Q8IXF9 AB040748;ABBA01048880;AC011298;AMYH01011624;AMYH01011625;CH471063;NM_198998 AAI72337;BAC45006;EAW71211;NP_945349;Q8IXF9 Hs.534650 AQP-12;AQP12;AQPX2 AQP-12;OTTHUMP00000164503;OTTHUMP00000201387;aquaporin 12;aquaporin X2;aquaporin-12A protein-coding ENSG00000184945 19941 16504 609789 VALIDATED 1317133 APRT adenine phosphoribosyltransferase Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q24 87403378 87405843 - 88875877 88878342 - 1599204;1580863;1599201;5135035;6480464;6907045;7240710 2451510;15571218;6327016 15196008;457664;3531209;17353931;16130169;18399692;17126311;15489334;14674717;12665801;12477932;11243733;10937693;10481956;10479485;10369268;9521589;9298830;8889579;8882882;8455250;7915931;7685481;7660991;3684585;3680503;3554238;3343350;2502918;2227951;2135300;2067530;1985452;1746557;1353080;869896;116697;18029348;19399589;20098747;21832049;22939629;22053931;22505724;19738201;20706999;21963094;22623428;23000965;18781797;21139048;21890473;21906983;21987572;21635362;22934314 353 H3BQB1;H3BQF1;H3BQZ9;H3BSW3;P07741 ABBA01013586;AC092384;AMYH01007914;AY306126;BC106894;BC106895;BC107151;BM423481;BM550173;BU507629;CH471184;CR749423;HH961760;M16446;NG_008013;NM_000485;NM_001030018;U09817;Y00486 AAA51769;AAB84304;AAI07152;AAP45051;CAA68543;CAH18261;CBX51353;EAW66760;EAW66761;NP_000476;NP_001025189;P07741 Hs.28914 1741351;1778214;2120281 GDB:180915;RH68125;RH70957 AMP;APRTD;DKFZp686D13177;MGC125856;MGC125857;MGC129961 AMP diphosphorylase;AMP pyrophosphorylase;adenine phosphoribosyltransferase;transphosphoribosidase APPROVED protein-coding ENSG00000198931 626 00029 102600;614723 REVIEWED 1352752 AQP12B aquaporin 12B 2 2 q37.3 241264508 241270990 - 241615835 241622317 - 6480464 12477932 653437 A6NM10;F2Z3N0;Q8IUS6 ABBA01048879;ABBA01048880;AC011298;AMYH01011624;BC041460;BC139748;BC157895;BC171912;NM_001102467 A6NM10;AAH41460;AAI39749;AAI57896;AAI71912;NP_001095937 Hs.437167 INSSA3;MGC149473 AQP-12B;OTTHUMP00000201388;aquaporin-12B;insulin synthesis associated 3 protein-coding ENSG00000185176 6096 VALIDATED 1344809 AQP10 aquaporin 10 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127365303 127369516 + 152560216 152564425 + 154293592 154297801 + 1580863;2312795;6480464 19096774 18678926;17975119;15898950;15489334;12477932;12084581;11573934;19913121;20628086;17207965;17575980;19023099;19204726;21691092;21733844;23382902 89872 Q96PS8 AB066105;ABBA01049481;AF159174;AK314993;AL162591;AL354980;AMYH01001415;BC069607;BC074896;BC074897;CH471121;NM_080429 AAH69607;AAH74896;AAH74897;AAL25998;ADQ32883;BAB91223;BAG37489;EAW53209;EAW53210;EAW53211;NP_536354;Q96PS8 Hs.259048 AQPA_HUMAN AQP-10;OTTHUMP00000034195;OTTHUMP00000034196;aquaglyceroporin-10;aquaporin-10;small intestine aquaporin APPROVED protein-coding ENSG00000143595 16029 07361 606578 REVIEWED 736750 AQP11 aquaporin 11 11 11 11 q14.1 74608361 74629072 + 76978328 76998342 + 77300680 77321401 + 1580863;6480464 15489334;16650285;16303743;16107722;12477932;17207965;21118806 282679 Q8NBQ7 AB028147;ABBA01017426;AK075346;AK311096;AMYH01003825;AP000609;AP002789;BC040443;BJ994586;CH471076;CS051419;CX867790;NM_173039 AAH40443;ADQ32983;BAC11558;BAC45004;CAI72204;EAW75030;EAW75031;NP_766627;Q8NBQ7 Hs.503345 1680206;1723375;1726683;2151136;2174097 G62578;RH123239;RH92330;SHGC-1207;SHGC-31328 AQPX1 AQP-11;OTTHUMP00000228846;aquaporin-11 protein-coding ENSG00000178301 19940 16503 609914 VALIDATED 735519 AQP4 aquaporin 4 This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 q11.2-q12.1 22686005 22699714 - 24432007 24445716 - 730277;1580863;2312795;5490116;5148010;5148027;5148028;5148037;5490117;5148011;5148023;5148026;5148029;5490122;5148016;5148022;5148035;5148036;5148014;5148025;2316076;5490126;5148024;5490118;5490153;5148012;5490120;5148006;5148030;5490154;2326035;5148033;5148020;5148013;5148032;5490129;5490152;5148008;5148015;5148031;5148034;6480464;5684013;6907045 7528931;19096774;19660138;21187412;20517941;20680099;19806476;21157915;21135737;20886625;20680636;20383338;20720509;20979759;20924629;21280976;19864112;21083433;20728226;19748503;20541575;16087714;21724913;19089902;21107133;21487926;21255222;20451280;18836575;20216911;21560328;20938728;21092735;20047900;20111877;19616516;21771203;21056916;20156423;21488209;21718723 7559426;19487655;19445480;19383790;19366470;19266146;19209385;19153045;19140826;19112001;19028829;18854171;18641458;18516975;18511455;18510734;18474738;18462810;18437047;18392839;18309154;18280225;18095136;18071147;18019416;17984171;17899684;17890008;17549682;17335082;16871401;16831965;16814974;16778375;16194264;16133546;16103109;15489334;15200272;14753493;14627352;12715185;12477932;12137754;12107411;11890849;11742978;11717465;11408278;11245621;9824541;9676432;8855281;8617713;8601457;8125298;18435417;22307776;22507888;21491501;17645239;19000426;19465451;19752303;19764565;19772916;19938104;19965522;20007705;20013023;20028711;20131265;20138100;20227773;20351659;20339523;20461409;19761816;20109536;17207965;20106632;20463974;21063116;20628061;23054238;20232212;20467785;20934410;21252246;20577926;21321193;21262839;21212277;21303170;20965731;22714714;22732097;23116879;23378324;21454592;21424125;20685122;21333492;21621278;21548930;21107126;21900637;22987438;21524183;22540328;21813785;22808259;23008451;22360420;21241398;21689527;21784068;20953960;21300735;21981006;22334710;22394609;21909659;22372348;20141731;21952128;21968684;22069320;21896312;22291033;22393049;22248725;22608667;22906356;21908481;21965418;21914143;22718347;22083667;23270503;22554469;22802001;22628234;22679274;22925751;22378467;22773464;22777185 361 F1DSG4;H0Y3H5;J3KRM4;P55087 AB128929;AB209156;ABBA01022569;AC018371;AK026728;AK222684;AK295069;AL119338;AL138136;AMYH01008906;AV725241;BC022286;BC030745;BC045780;BI596912;BI667387;BI917845;BQ638704;CD105892;CH471088;CK001094;D63412;HQ901095;N50070;NG_029560;NM_001650;NM_004028;R35726;U34845;U63613;U63622;U63623 AAB26957;AAB26958;AAC50284;AAG17964;AAH22286;ADQ32133;ADZ13511;BAA09715;BAD22823;BAD92393;BAD96404;BAG58116;EAX01228;EAX01229;NP_001641;NP_004019;P55087 Hs.315369 1648568;1649960;1666233;1669551;1674628;1678671;1712663;1734586;1795378;2143535;2148688;2164624;7186708 A002Q03;A006W40;AQP4_717;D18S1195;D18S1223;D18S941E;RH121996;RH18229;RH25921;SHGC-36589;WI-13598;WI-21214 HMIWC2;MGC22454;MIWC AQP-4;OTTHUMP00000162792;WCH4;aquaporin type4;aquaporin-4;mercurial-insensitive water channel APPROVED protein-coding ENSG00000171885 637 02631 600308 REVIEWED 70370 AQP2 aquaporin 2 (collecting duct) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008] 12 12 q12-q13 48630796 48638931 + 50344524 50352664 + 734596;1580863;1601243;2314280;2314281;2314283;2314303;2314306;2314325;2314292;2314293;2314326;2314343;2314296;2314310;2314282;2314347;2312654;2314344;2314345;2312795;2314279;2313211;2314285;1303982;2312656;6480464;6907045;7240710 11035038;16582573;19585583;19461158;19293543;16968783;16845277;16434568;18296634;15705184;12218327;17229678;16641094;19458121;11380083;18971210;12191971;12021537;19096774;19701945;15579502;19147915;15037626;18431594 22403735;16825342;16580609;16563128;16483614;16449354;16288724;16221200;16159898;16049696;15956775;15922355;15703994;15489334;15458431;15155571;15100362;15012730;14702039;14662748;14593099;14514735;12819016;12787389;12631357;12566732;12477932;16902321;12208541;12194985;12051765;12050236;11929850;11536078;11509828;11456273;11297561;11076974;10710543;10372737;9745427;9649557;9550615;9402087;9302264;9268644;9048343;8882880;8140421;8125298;7525161;7524315;7522228;7512890;7510718;17965877;7532304;16928804;19138132;18678705;18519086;18515885;18389276;18247144;18066585;18040725;17957381;17763164;17636261;17550212;17192724;16979638;19923410;20379614;20416077;20452482;8584435;9321919;20724536;20403973;20390303;20673868;21063116;20722976;21237499;21252246;22732097;23078817;23326416;21824900;21715543;21209006;20301356;22889921;22644838;23364801;22778181 359 F8VPL3;F8W0S2;P41181 ABBA01031544;AC025154;AC067739;AF147093;AI792401;AK055824;AK225940;AMYH01004449;BC042496;CH471111;CR542024;D31846;NG_008913;NM_000486;S73196;S73197;Z29491 AAB31998;AAB31999;AAD38692;AAH42496;BAA06632;CAA82627;CAG46821;EAW58109;NP_000477;P41181 Hs.130730 2141900 STS-D31846 AQP-CD;MGC34501;WCH-CD ADH water channel;AQP-2;OTTHUMP00000241925;OTTHUMP00000241926;OTTHUMP00000242769;aquaporin 2;aquaporin-2;aquaporin-CD;collecting duct water channel protein;water channel protein for renal collecting duct;water-channel aquaporin 2 APPROVED protein-coding ENSG00000167580 634 00141 107777;125800 REVIEWED 737143 AQP6 aquaporin 6, kidney specific The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008] 12 12 12 q13 49162741 49167043 + 48652887 48657189 + 50366620 50370922 + 1580863;2312795;6480464 19096774 8812490;12477932;12177001;9268644;12522663;19680475;20461409 363 F8VW87;Q13520 ABBA01031546;AC025154;AL137716;AMYH01004449;BC065275;CH471111;NM_001652;U48408;U48409 AAB41566;AAB41567;AAI56044;AAI56930;CAB70889;EAW58111;NP_001643;Q13520 Hs.54505 1689999;1690838;5037552 D8S2279;RH98744;RH98915 AQP2L;KID AQP-6;OTTHUMP00000164830;aquaporin 2-like, kidney specific;aquaporin 6;aquaporin-2-like;aquaporin-6;aquaporin-6, kidney specific;hKID;kidney-specific aquaporin APPROVED protein-coding 639 03226 601383 REVIEWED 1347753 AQP4-AS1 AQP4 antisense RNA 1 18 18 18 q11.2 21255439 21326075 + 22764656 22768365 + 24445272 24515910 + 15489334;14702039;12477932 147429 ABBA01022568;ABBA01022569;AC010854;AC018371;AK055069;AMYH01008906;BC043377;BC105127;BC112070;CH471088;NR_026908 BAB70850;EAX01231 Hs.559280 1649427;1681090;1712663;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;G31028;L18426;RH121996;RH92179 C18orf16;CHST9-AS1;FLJ30507;MGC138275 APPROVED miscrna ENSG00000260372 26399 08510 PREDICTED 68638 AQP3 aquaporin 3 (Gill blood group) This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011] 9 9 p13 33431158 33437590 - 33441152 33447631 - 704374;704407;1580863;2312795;5490152;6480464;6484113;6907045 12595491;12517734;19096774;19616516 17943189;7543093;19393693;19184071;18678926;18601899;18543247;18435676;18280225;18247144;18036046;17968524;17471492;17056099;16918518;16672223;16638588;16596446;16043462;15703994;15489334;15375592;15164053;14702039;14675200;14514735;12773542;12769265;12477932;12239222;12234316;11918716;11751877;9558461;9525951;8641135;7558005;22814259;22624030;21401805;20596606;17545093;12522663;18197497;18718702;19545896;19619514;20485009;14521551;20546216;19913121;20106632;20428189;20628086;21063116;22901156;20364107;21191421;21237499;21252246;21276418;16344560;21135872;22808259;21457357;21907710;23017148;23043286;20141731;19322201;22576684;22197473;22211241;21538271;23041062;23152856;22535323;23165320 360 Q92482 AB001325;ABBA01065052;AJ493597;AK095363;AK292208;AK303206;AK315760;AL356218;AMYH01019322;BC012988;BC013566;BF437236;BT007199;CH471071;CR541991;CR542025;D50486;DA976040;DQ083949;JA738585;NG_007476;NM_004925 AAH13566;AAP35863;AAY68214;BAA09077;BAA19237;BAF84897;BAG38113;BAG64296;CAD38526;CAG46788;CAG46822;CCF76945;EAW58500;EAW58501;EAW58502;EAW58503;EAW58504;NP_004916;Q92482 Hs.234642 1663111;1773868;1797292;2145055;5113609;5491306 AQP3_2497;Aqp3;RH46411;RH46932;SGC34487;SHGC-34032 AQP-3;GIL AQP-3;Gill blood group;OTTHUMP00000021206;aquaglyceroporin-3;aquaporin 3;aquaporin 3 (GIL blood group);aquaporin-3 APPROVED protein-coding ENSG00000165272 636 08970 600170;607457 REVIEWED 736375 AQP7 aquaporin 7 Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. [provided by RefSeq, Jul 2008] 9 9 p13 33374948 33392517 - 33384948 33402517 - 69753;1580863;1626292;1626289;2312795;6480464 9252401;15338270;17566090;19096774 9405233;18401671;17562358;17351148;16325777;15252450;15164053;14702039;12477932;11952783;9931374;9824541;9714739;18718702;19615702;20463097;22425521;21609198;22899094;23001483;23290745;22206455 364 B7Z4U2;B7Z7F6;O14520;Q08E94;Q5T5L3;Q5T5L4;Q5T5L5;Q5T5M0;Q5T5M1;Q6P5T0 AB006190;AB052626;ABBA01065057;ABBA01065058;ABBA01065059;ABBA01065060;AK055744;AK294028;AK297860;AK297885;AK300716;AK301949;AK310456;AK315879;AL356218;AMYH01019322;BC062701;BC119672;BC119673;CH471071;DQ786216;NG_027764;NM_001170 AAH62701;AAI19673;AAI19674;BAA21745;BAC05693;BAF98770;BAH11653;BAH12678;BAH12686;BAH13332;BAH13592;EAW58505;EAW58506;NP_001161;O14520 Hs.455323 5022578;5111959;5124703 D1S1423;G43491;RH64915 AQP7L;AQP9;AQPap;GLYCQTL;MGC149555;MGC149556 AQP-7;OTTHUMP00000021216;OTTHUMP00000021220;aquaglyceroporin-7;aquaporin adipose;aquaporin-7;aquaporin-7-like APPROVED protein-coding ENSG00000165269 640 04277 602974;614411 REVIEWED 3277469 AQP7P4 aquaporin 7 pseudogene 4 9 9 q13 66770755 66788248 + 67038569 67048428 + 100132938 AL591379;AMYH01021128;AMYH01021129;NG_021659 pseudo 32056 INFERRED 1604890 AQP7P3 aquaporin 7 pseudogene 3 9 9 9 p12 89603533 89636019 + 42847807 42865518 + 42858152 42893138 + 12477932;11952783 441432 A6NL99 AC129778;AMYH01020138;AMYH01020139;AMYH01020140;AMYH01020141;AMYH01020142;AMYH01020143;AMYH01020144;AMYH01020145;BC052332;NR_026558 A6NL99 Hs.743215 AQPap-3 pseudo 31976 17406 PROVISIONAL 1603335 AQP7P1 aquaporin 7 pseudogene 1 9 9 q13 66960035 66979312 - 67270215 67289492 - 12477932;11952783 375719 AB052627;AB052630;AK128231;AL845321;AMYH01021159;BC070322;BC071803;NR_002817 Hs.658215 5111959;5124703 G43491;RH64915 bA251O17.3 pseudo 32048 PROVISIONAL 70371 AQP5 aquaporin 5 Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008] 12 12 q13 48641546 48645227 + 50355279 50359461 + 727251;1580863;2312795;70240;5490152;6480464;6484113 11773623;19096774;11773623;19616516 8621489;18853286;18846354;19664333;15342556;18768791;18612408;18583321;18478076;18449356;18305162;18280225;18215141;18042467;17640479;17553491;17043812;16537379;16500622;16341674;16189514;15489334;12801959;12565800;12477932;11408278;11245621;10476940;9268644;20362698;20669661;20806077;12522663;19060904;19273840;19340551;19652646;20360993;20106632;19166033;21455588;21427539;22732097;21151978;21244858;21524183;21251364;21315850;23160677;22145049;21950762;22472942;22470085;22576684;23176748;21988832;23313152;22048942;23352976;23436048;23326416;21973049 362 P55064 ABBA01031544;ABBA01031545;ABBA01031546;AC025154;AMYH01004449;BC032946;BP272197;BQ083334;BX095029;CH471111;CR541989;CR542022;NM_001651;U46566;U46567;U46568;U46569 AAC50474;AAH32946;ABM82149;ABM85332;CAG46786;CAG46819;EAW58110;NP_001642;P55064 Hs.298023 AQP-5 AQP-5;OTTHUMP00000241927;aquaporin-5 APPROVED protein-coding 638 02706 600442 REVIEWED 1601913 AQP7P2 aquaporin 7 pseudogene 2 9 9 q21.11 68923169 68941137 - 69633922 69651282 - 6480464 12477932;11952783 389756 ABBA01017695;ABBA01017696;AL445665;AMYH01021268;AMYH01021269;AMYH01021270;AMYH01021271;AMYH01021272;AMYH01021273;NG_023409 pseudo 32049 INFERRED 737411 AQP8 aquaporin 8 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008] 16 16 p12 25135786 25147754 + 25228285 25240253 + 1580863;6480464;5490152;6907045 19616516 19563057;9806845;18948439;17461471;15489334;12712100;12477932;11717661;11329013;11231887;10393433;9325099;8125298;17545093;12801959;17636236;20144166;20424473;17207965;20732771;22901156;18788571;19087520;22192778 343 O94778;Q53GF6 AB013456;ABBA01017123;AC008741;AF067797;AK222964;AK222975;AMYH01007398;BC040630;BG221545;CH471145;NM_001169 AAF19050;AAH40630;ADQ33080;BAA34223;BAD96684;BAD96695;EAW55769;EAW55770;NP_001160;O94778 Hs.176658 AQP-8 AQP-8;OTTHUMP00000122504;aquaporin-8 APPROVED protein-coding ENSG00000103375 642 04778 603750 REVIEWED 735505 AQP9 aquaporin 9 The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. [provided by RefSeq, Jul 2008] 15 15 q 56217700 56265402 + 58430408 58478110 + 1580863;2312795;2326035;6480464;6907045;7240710 19096774;20216911 9733774;9514918;19481256;19100828;18762715;18652774;18401671;17525633;17346701;17081983;16480766;15592307;15489334;15336539;12681500;12477932;11597198;11466204;10564231;17545093;20378617;17636236;18197497;18718702;19615702;19629726;19772916;19802720;19916714;20379614;20424473;20587318;20960106;20732771;22425521;20220109;21873454;21945491;22319637;19953087;22262958;22916037 366 H0YK62;O43315 AB008775;ABBA01038985;ABBA01038986;AC025431;AC066616;AF016495;AF102870;AK300055;AK313214;AMYH01006678;BC026258;BE042553;CB528930;CH471082;CR542027;DC410284;HC250945;HC311134;NG_011975;NM_020980 AAF16677;AAF27983;AAH26258;BAA24864;BAG36029;BAG61864;CAG46824;CBJ05770;CBJ21222;EAW77532;EAW77533;EAW77534;NP_066190;O43315 Hs.104624 1339044;1676188;1681999;1724907;1759003;1767355;1794866;1795220;1849119;2181789 AQP9_51;ATC-P10583;D15S1283;D15S198;PMC61180P1;RH119218;RH1645;RH98507;SHGC-150628;SHGC-2193 AQP-9;HsT17287;SSC1 OTTHUMP00000163469;aquaglyceroporin-9;aquaporin-9;small solute channel 1 APPROVED protein-coding ENSG00000103569 643 04223 602914 REVIEWED 1606341 ARAF2P v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene 7 7 7 q11.21 59675988 59676957 - 62502402 62503193 - 62864760 62865776 - 12477932;9847074;8020955;2717185;1505215 644000 AC073188;AMYH01017381;BC033982;L24037;NG_008381 1667105 ARAF2 ARAF2;ARAFPS;PKS1 pseudo 647 INFERRED 6481281 ARAP1-AS1 ARAP1 antisense RNA 1 100874075 AP003065 APPROVED miscrna 39993 5131395 ARAP1-AS2 ARAP1 antisense RNA 2 11 11 q13.4 69716083 69721727 + 72411519 72416889 + 100506020 ABBA01017534;AK125753;AMYH01003796;AP003065;XR_110891;XR_111206;XR_171905 Hs.503165 1782472 SHGC-156281 FLJ43765 APPROVED miscrna ENSG00000245148 39994 MODEL 2306588 ARAF3P v-raf murine sarcoma 3611 viral oncogene homolog 3, pseudogene 7 7 7 q11.21 59675983 59676957 - 62440429 62441646 + 62803095 62804112 + 9847074;1505215 285893 ABBA01018529;AC006455;NG_003157 1667105 ARAF2 ARAFPS2 pseudo 35474 INFERRED 735652 AR androgen receptor The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. 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367 E7EVX6;E9PEG3;F1D8N5;F5GZG9;P10275 ABBA01067242;ABBA01067243;ABBA01067244;ABBA01067245;ABBA01067246;ABBA01067247;ABBA01067248;ABBA01067249;ABBA01067250;ABBA01067251;ABBA01067252;ABBA01067253;ABBA01067254;ABBA01067255;ABBA01067256;ABBA01067257;ABBA01067258;ABBA01067259;ABBA01067260;ABBA01067261;AF162704;AF321914;AF321915;AF321916;AF321917;AI352339;AL049564;AL158016;AL356358;AMYH01022515;AMYH01022516;AMYH01022517;AX453758;BC132975;CH471132;FJ235919;FJ235920;GU208210;HQ692823;JB048765;L29496;M20132;M20260;M21748;M23263;M27430;M34233;M35851;M58158;M73069;NG_009014;NM_000044;NM_001011645;S79366;S79368;U16371 AAA51729;AAA51735;AAA51770;AAA51771;AAA51772;AAA51774;AAA51775;AAA51778;AAA51780;AAA51886;AAB21256;AAB21257;AAB60346;AAD45921;AAI32976;AAK09423;AAK09424;AAK09425;AAK09426;ACN39562;ACN39563;ACZ81436;ADZ17334;CCV20035;EAX05380;NP_000035;NP_001011645;P10275 Hs.76704 1662767;1667291;1677790;1702308;1702966;1703046;1729259;1729269;1729273;1729277;1729279;1740911;1740915;1740917;1740919;1740931;1740933;1740935;1740937;1740939;1740941;1740943;1741845;1742003;1742277;1742377;1744515;1745941;1792150;1793336;1793338;1793340;1797302;1854524;2119949;2122463;2124270;2137901;2154697;2190489;5117446;7185477 AF020219;AR;AR_1980;D19S216;DXS1397;DXS7498;DXS7751;DXS9736;G64112;G64113;G64114;G64115;G64116;G64286;GDB:176283;GDB:176286;GDB:176287;GDB:176288;GDB:176322;GDB:176323;GDB:176324;GDB:176326;GDB:176327;GDB:176328;GDB:176329;GDB:185508;GDB:188670;GDB:194743;GDB:196546;GDB:197027;GDB:511610;GDB:555517;GDB:600694;PMC137585P1;PMC20963P1;PMC20963P2;PMC20963P3;RH11082;RH99038;STS-M20132;STS-N64522;WI-20403 AIS;DHTR;HUMARA;HYSP1;KD;NR3C4;SBMA;SMAX1;TFM OTTHUMP00000023450;OTTHUMP00000217211;androgen nuclear receptor variant 2;androgen receptor;androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease);dihydrotestosterone receptor;nuclear receptor subfamily 3 group C member 4 APPROVED protein-coding ENSG00000169083 644 02437 176807;300068;300633;312300;313200;313700 REVIEWED 1604505 AQPEP laeverin 5 5 5 q23.1 111246534 111311673 + 115326170 115391199 + 115298151 115363299 + 6480464 19578876;17525158;16804865;15897020;15489334;14706636;14702039;12477932;19819873;20379614;21212512;22402206 206338 Q0P5U8;Q6Q4G3 ABBA01069029;AC010282;AC034236;AK027809;AK075131;AK291655;AMYH01015563;AY560010;BC036440;BC045809;BC060869;BC068560;BC070028;BC094716;BC109022;BC109023;BX096521;CH471086;NM_173800 AAH60869;AAH68560;AAI09023;AAI09024;AAS66719;BAC11422;BAF84344;EAW48946;EAW48947;EAW48948;EAW48949;EAW48950;NP_776161;Q6Q4G3 Hs.98288 1335267;1655033;1678963;1685265;1712965;1759731;1766983 D5S2055;RH120572;RH66556;RH98415;RH98999;SHGC-151261;SHGC-152535 APQ;FLJ90650;LVRN;MGC125378;MGC125379 AP-Q;CHL2 antigen;OTTHUMP00000159130;OTTHUMP00000222937;aminopeptidase Q APPROVED protein-coding ENSG00000172901 07118 610046 VALIDATED 1314717 AQR aquarius homolog (mouse) 15 15 15 q14 11907907 12021336 - 32935844 33049287 - 35148552 35261995 - 6480464;6907045 16949364;15489334;14702039;12477932;11991638;9628581;9626505;20588308;19615732;20379614;20360068;21139048;21890473;21906983;22318606;22446626;22586326;23084401 9716 H0YH15;H0YLN9;O60306 AB011132;ABBA01038515;ABBA01038516;ABBA01038517;AC018868;AK001173;AK291615;AK315815;AL703893;AMYH01006540;BC027452;BC036913;BC070379;BC108262;BC127111;BC127112;BX647820;BX648611;CH471125;EF553519;NM_014691 AAH36913;AAH70379;AAI08263;AAI27112;AAI27113;ABQ66265;BAA25486;BAF84304;BAF98706;EAW92319;EAW92320;EAW92321;NP_055506;O60306 Hs.510958 1671577;2109053;2144276;2191387 AQR_8983;MARC_21173-21174:1027090229:1;WI-14003;WI-16389 DKFZp686B23123;IBP160;KIAA0560;fSAP164 functional spliceosome-associated protein 164;intron-binding protein aquarius;intron-binding protein of 160 kDa protein-coding ENSG00000021776 29513 12468 610548 VALIDATED 1348364 ARAF v-raf murine sarcoma 3611 viral oncogene homolog This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012] X X p11.4-p11.2 47305522 47316264 + 47420499 47431320 + 5686410;6480464;6907045 22177953 14688025;14684750;12477932;11952167;11812000;10967104;10848612;9110174;9042965;8621729;8619474;8394352;8157000;8020955;7731720;3529082;2717185;1262038;11969417;15778465;11909642;12620389;17353931;3029685;18662992;17603482;17535970;17081983;16980614;16964243;16344560;16189514;15772651;15763428;15736953;15489334;15324660;20936779;17380122;20145135;19667065;21903422;21139048;22318606;17979178;20706999;21988832;22939624;23352452 369 B4DMG5;P10398;Q96II5 AB158254;AB208831;ABBA01052378;ABBA01052379;AF052136;AK130043;AK297453;AK300975;AK307747;AMYH01022263;BC002466;BC007514;BT019864;CA424869;CH471164;DA264472;DC362427;L24038;M13829;NG_016339;NM_001256196;NM_001256197;NM_001654;U01337;X04790;Z84466 AAA65219;AAB03517;AAB08754;AAH02466;AAH07514;AAV38667;ABM83582;ABM86822;BAD92068;BAE66645;BAG59877;BAG62597;CAA28476;EAW59310;EAW59311;EAW59312;NP_001243125;NP_001243126;NP_001645;P10398 Hs.446641 1657346;1658844;1678731;1685431;1689961;1702190;1793066;1850481;2150920;2218238 ARAF1__4348;G23742;GDB:182582;PMC193924P5;RH79745;RH79877;RH93525;SGC30176;STS-M13829;WI-6972 A-RAF;ARAF1;PKS2;RAFA1 A-Raf proto-oncogene serine/threonine-protein kinase;OTTHUMP00000023212;Oncogene ARAF1;Ras-binding protein DA-Raf;proto-oncogene A-Raf;proto-oncogene A-Raf-1;proto-oncogene Pks;serine/threonine-protein kinase A-Raf;v-raf murine sarcoma 3611 viral oncogene homolog 1 APPROVED protein-coding ENSG00000078061 646 02405 311010 REVIEWED 1344946 ARCN2 archain 2 371 650 2299190 AREGB amphiregulin B 4 4 q13.3 75699657 75709510 + 75480839 75490481 + 6480464;6484113 12743035;2466334;22747683 727738 P15514;Q5U026 AC149643;XM_001125684 P15514;XP_001125684 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 OTTHUMP00000219196;amphiregulin B protein-coding ENSG00000205595 34509 MODEL 1315077 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008] 4 4 4 p14 36507143 36685553 - 35744017 35922374 - 36067620 36245979 - 1580863;6480464;6907045 9628581;11804589;18615156;17081983;17077126;15815621;12477932;11804590;9847074;20823205;20467438;23295182;22959728;23251661 116984 A7E2A5;D6RAD6;D6RC39;Q8WZ64 AB011152;ABBA01074291;AC098827;AC104078;AC108033;AC109818;AC116623;AF411982;AF439781;AK126864;AMYH01014107;AW274408;AY049733;BC105089;BC105091;BC150258;BX104334;CH471069;NM_015230 AAI05090;AAI05092;AAI50259;AAI60097;AAL04166;AAL12170;AAL32459;AAY40927;BAA25506;EAW92870;EAW92871;EAW92872;NP_056045;Q8WZ64 Hs.479451 1357240;1716405;1728087;1739053;1848845;1848847;2218370;7184810 CENTD1_4556;D21S1261;D4S2701;G63315;RH121383;SHGC-24738;SHGC-50521 CENTD1;FLJ13675;FLJ44916;KIAA0580;PARX Arf and Rho GAP adapter protein 2;OTTHUMP00000123468;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2;centaurin, delta 1;centaurin-delta-1;cnt-d1 APPROVED protein-coding ENSG00000047365 16924 09439 606645 REVIEWED 1347923 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008] 5 5 q31.3 141013152 141041984 - 141032968 141061800 - 1580863;6480464;6484113;6907045 11804589;15569923;17314030;15546919;14702039;12832619;12477932;12015138;19786092;21076469;22750419;21987572;21139048;15090612;21963094;23239578;23180820 64411 B4DIT1;G5E9Y3;Q05CH1;Q8WWN8;Q9H7C1 ABBA01026404;ABBA01026405;AC022420;AJ310567;AK001579;AK024718;AK091385;AK290052;AK295768;AMYH01015661;BC009968;BC025757;BC027880;BX489939;CH471062;NM_022481 AAH09968;AAH25757;AAH27880;BAB14973;BAF82741;BAG50942;BAG58593;CAC83946;EAW61904;EAW61905;EAW61906;EAW61907;NP_071926;Q8WWN8 Hs.726187 1340382;1656696;1656698;1675072;1854122;2218998 A004M29;AF022188;AF052687;ARAP3__4349;D5S2010;WI-11093 CENTD3;DRAG1;FLJ21065 ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3;Arf and Rho GAP adapter protein 3;OTTHUMP00000160010;OTTHUMP00000224030;OTTHUMP00000224031;PtdIns(3,4,5)P3-binding protein;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3;centaurin, delta 3;centaurin-delta-3;cnt-d3;phosphoinositide binding protein APPROVED protein-coding ENSG00000120318 24097 09441 606647 REVIEWED 1606063 ARF1P1 ADP-ribosylation factor 1 pseudogene 1 7 7 7 q21.3 89161313 89163790 + 94301018 94303652 + 94463139 94465616 + 6480464 442334 AACC02000013;ABBA01045781;AL157375;AMYH01017697;CH236949;NG_005537 ARF1 pseudo 22500 INFERRED 5130823 ARF1P2 ADP-ribosylation factor 1 pseudogene 2 12 12 120916794 120917329 - 121282915 121283450 - 100420012 ABBA01020139;AC069214;AMYH01004805;NG_024047 2116297;2165705 D12S2073;D4S2372 pseudo 39883 INFERRED 5130838 ARF1P3 ADP-ribosylation factor 1 pseudogene 3 8 8 8 q24.13 121352276 121352788 + 125233346 125368864 + 125164165 125164677 + 442396 ABBA01037890;AC090192;AC090921;AC100871;AMYH01019006;NG_022434 1703516;1749877 SHGC-111604;SHGC-82647 pseudo 39884 INFERRED 1345639 ARF2 ADP-ribosylation factor 2 376 653 1321262 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 11 11 q13.4 72073762 72115821 - 72396114 72463434 - 2316188;6480464;6484113;6907045 14559250 11804590;11804589;16169070;18165900;18939958;18764928;18003747;17081983;16344560;15489334;12477932;12168954;9872452;15607035;19666464;22357923;20581827;20554524;20889853;21267535;21275903;21832049;20360068;21900206;21139048;21890473;21873549;22446963;19531213;22581228;19380743;22573888 116985 E7EU13;F5GWN4;F5GWQ2;F8WBT0;H0YGD1;Q96HP6 AB018325;ABBA01017533;ABBA01017534;AF411983;AJ621557;AJ706973;AK160383;AMYH01003796;AP003065;AY049732;AY553630;BC008315;BC021244;BC056401;BC140792;BC144562;BQ921498;CD251362;CH471076;DA186424;NM_001040118;NM_001135190;NM_015242 AAH08315;AAH56401;AAI40793;AAI44563;AAL04167;AAL12169;AAT36325;BAA34502;BAD18726;CAF21317;EAW74863;EAW74864;EAW74865;EAW74866;NP_001035207;NP_001128662;NP_056057;Q96P48 Hs.503165 1765247;1782472;1788420;2175645;2183536;2218372 A006F43;CENTD2_4557;D11S1002;SHGC-148738;SHGC-156281;fb93h06.x1 CENTD2;KIAA0782 ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1;OTTHUMP00000211458;OTTHUMP00000211459;OTTHUMP00000211460;OTTHUMP00000211461;OTTHUMP00000211462;OTTHUMP00000211463;arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1;centaurin, delta 2;centaurin-delta-2;cnt-d2 APPROVED protein-coding ENSG00000186635 16925 09440 606646 REVIEWED 730952 ARC activity-regulated cytoskeleton-associated protein 8 8 8 q24.3 140003980 140007899 - 143689412 143692835 - 143692405 143695833 - 734603;6480464 10196175 17466953;17120280;16189514;15489334;12477932;11117363;10970730;9039502;15103018;21834987;22584581;22036569;21906983;22302811;22622366 23237 Q7LC44 ABBA01029411;ABBA01029412;AC139676;AF193421;AF248637;AI096899;AMYH01019089;AP006547;BC012321;BC075802;BI752734;CH471162;D87468;HI574238;NM_015193 AAF07185;AAG33705;AAH12321;AAH75802;ABM84592;ABM86706;BAA19667;CBX47608;EAW82320;EAW82321;NP_056008;Q7LC44 Hs.40888;Hs.743662 1795380;2147450 ARC_303;SGC31190 Arg3.1;KIAA0278 ARC/ARG3.1;OTTHUMP00000165993;activity-regulated cytoskeleton-associated protein;activity-regulated gene 3.1 protein homolog protein-coding 648 12469 612461;614937 VALIDATED 1348063 ARF4P1 ADP-ribosylation factor 4 pseudogene 1 9 9 9 q34 107491974 107493090 + 135933847 135934389 + 136943753 136944869 + 2107548 380 ABBA01021992;AC000387;AL591386;AMYH01021818;M31889;NG_001075 ARF4P APPROVED pseudo 657 INFERRED 1345760 AREG amphiregulin The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells, and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). This protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells and inhibits the growth of certain aggressive carcinoma cell lines. This encoded protein is associated with a psoriasis-like skin phenotype. [provided by RefSeq, Jul 2008] 4 4 q13.3 75529717 75539590 + 75310853 75320726 + 1578719;1578721;1580863;1578718;2289950;2292662;2292664;2292660;2292661;2292663;2289980;2292658;2292659;2292665;2292668;2317963;6480464;6484113;6907045 15955087;12370739;15509566;16962163;11133810;8543395;11523048;11507076;10225449;16469638;16438846;14716741;18421211;8621257;15982853 2466334;12743035;3413110;19587163;19494503;19344731;18955794;18946024;18835871;18811692;18325497;18045238;17962208;17960400;17942395;17548638;17525275;17035230;16888076;16713569;16641105;16470170;16336275;16213893;16207795;16088955;15767261;15735670;15696083;15696081;15685553;15489334;15474502;15284208;15254267;15186320;14633617;12711607;12568494;12477932;12356750;11942969;11859273;11719440;11494130;11469683;11038170;22395988;10490105;10424781;10389762;10085134;9410906;7698025;2325643;2234093;2017164;1333777;21245963;20428186;20651357;21454516;18560449;19070973;19337692;19609315;19735466;19825997;19895983;19915156;19935651;20103632;20237496;20726858;22641668;20719813;20628624;20651071;21036386;20567134;20856199;21377153;20811902;21298020;21439861;22570239;19003995;21917092;22825057;21514161;21742971;21258428;21653755;21302279;21161326;22425981;22438584;22445895;22747683;21906983;23430747;23285165;21832049;22581387;22967896 374 D6RFX5;P15514;Q5U026 ABBA01022994;AC021180;AMYH01014303;AY442340;BC009799;BC146953;BC146967;BT019866;CH471057;M30698;M30699;M30700;M30701;M30702;M30703;M30704;NM_001657 AAA51773;AAA51781;AAH09799;AAI46954;AAI46968;AAR05438;AAV38669;ABM83816;ABM87136;EAX05710;NP_001648;P15514 Hs.270833 1670005;1742203;2144341;2165455;2174153 D4S3138;GDB:193666;SHGC-50815;SHGC-59491;SHGC-59548 AR;AREGB;CRDGF;MGC13647;SDGF OTTHUMP00000160473;OTTHUMP00000219184;amphiregulin;colorectum cell-derived growth factor;schwannoma-derived growth factor APPROVED protein-coding ENSG00000109321 651 00093 104640 REVIEWED 1351076 ARF4P2 ADP-ribosylation factor 4 pseudogene 2 20 20 20 q13.33 58179363 58180664 - 60973947 60974973 - 61503331 61504632 - 170485 ABBA01021375;AL035669;AMYH01012065;NG_001031 dJ885L7.7 pseudo 16599 INFERRED 1602801 ARF4P3 ADP-ribosylation factor 4 pseudogene 3 13 13 13 q32.3 82251832 82253602 - 100202049 100209718 - 101407646 101409416 - 390423 ABBA01027085;AL356732;AMYH01005336;CH471085;NG_008359 EAX09044 1658200 D3S3904 pseudo 32380 INFERRED 2792834 ARF4P5 ADP-ribosylation factor 4 pseudogene 5 1 1 p31.1 82289299 82290194 + 84038401 84039296 + 100316867 ABBA01045664;AC098654;AMYH01000747;NG_016179 pseudo 37629 INFERRED 1344658 ARCN1 archain 1 This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115603886 115634520 + 117948321 117978855 + 118443102 118473748 + 1580863;6480464 12477932;12388752;8940050;8854871;8355790;1898986;10921873;9482852;16956762;7782067;11031247;8533093;8599108;16344560;15489334;19615732;8858162;21832049;22863883;22939629;16196087;22750876;20360068;21139048;21890473;21906983;9751720;21963094;22623428;23000965;23300798;14729954;22053931;22505724 372 B0YIW5;B0YIW6;E9PK34;P48444 AA856562;ABBA01039702;ABBA01039703;AK304019;AK312298;AMYH01004071;AP000941;AU125652;BC064936;BC080638;BC093636;BC093638;BI560739;BQ018687;BX640860;CH471065;CR988766;DB216489;EF444951;NM_001142281;NM_001655;X81197 AAH64936;AAH93636;AAH93638;ACA05943;ACA05944;BAG35225;BAG64934;CAA57071;CAE45922;EAW67397;EAW67398;EAW67399;NP_001135753;NP_001646;P48444 Hs.33642 1654587;1706252;1725761;2131558;2191203;5022578;5037552 D1S1423;D8S2279;G62126;HSC26A042;MARC_16122-16123:1018032385:1;SHGC-80669;WI-12394 COPD OTTHUMP00000232677;OTTHUMP00000232678;OTTHUMP00000232680;archain vesicle transport protein 1;coatomer delta subunit;coatomer protein complex, subunit delta;coatomer protein delta-COP;coatomer subunit delta;delta-COP;delta-coat protein APPROVED protein-coding ENSG00000095139 649 02893 600820 REVIEWED 2798791 ARF4P4 ADP-ribosylation factor 4 pseudogene 4 13 13 13 q31.1 62357503 62364825 + 80353699 80361021 + 81455698 81463020 + 100129023 ABBA01021709;AL590807;AMYH01005238;NG_016164 pseudo 37628 INFERRED 1316884 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 14 14 14 q24.3 55166339 55218171 - 74197708 74249560 - 75127955 75179807 - 1580863;6480464 15489334;12508121;12477932;9205841;20379614;21139048;22939624;23479728 9870 G3V245;G3V2B5;G3V506;G3V5P7;H0YJ67;H0YJ69;H0YJF1;H0YJK5;O15033 AB002315;ABBA01030714;AC007956;AK296912;AK304217;AMYH01005857;BC032944;BI459956;BX248747;CH471061;NM_001039479 AAF61276;AAH32944;BAA20775;BAG59467;BAG65089;CAD66554;EAW81186;NP_001034568;O15033 Hs.497417 1649547;1677032;1679906;1682966;2180775 D14S1302;RH80624;RH91392;RH91897;WI-11347 KIAA0317 OTTHUMP00000205819;OTTHUMP00000246138;apoptosis-resistant E3 ubiquitin protein ligase 1;hypothetical protein LOC9870;protein KIAA0317 APPROVED protein-coding ENSG00000119682 20363 13794 VALIDATED 1353880 ARF1 ADP-ribosylation factor 1 ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q42 226336984 226353536 + 228270361 228286913 + 6480464;6484113;6907045 1577740;9819391;14654833;14690595;8529647;16956762;11031247;8533093;8599108;10402461;15202998;19141284;18990689;18693248;18689681;18597672;18551169;17981261;17693410;17555535;17451557;17112341;16912072;16710414;16669702;16545942;16381901;16341674;16308272;16169070;15876864;15814706;15793564;15684379;15680326;15581351;15489336;15489334;15336557;15308674;15107860;14676827;14665636;14636574;12799371;12636914;12519790;12509462;12477932;11926829;11914273;11726511;11707398;11703931;11301005;11297540;11278939;11076863;10921873;10858454;10828067;10801846;10749932;10747863;10747089;10720466;10623590;10589680;10318838;15781476;21454700;10212218;10102276;10022920;9756891;9733781;9688545;9653114;9417041;9197239;9110174;9038142;8661066;8619474;8288610;7990966;7990146;7898460;7552752;2474826;2105501;1899243;1680566;11373276;21319273;21068255;15944734;14654841;20457610;11252894;11694590;16223492;17347647;19359423;19596022;20164217;20214751;20228810;20861011;20529868;20089835;22939629;22962618;20881058;21478909;21789191;16196087;21844371;20360068;21893600;15143060;22359663;21139048;21890473;21906983;21963094;10198630;18781797;22025613;22158626;22291037;21628590;22348287;8861955;19738201;19805454;21988832;22304920;22623428;23000965;23415225;19149577;21853274;21917951;22053931;22797925;22952844;22573888;22573891 375 P84077 ABBA01005829;ABBA01005830;AF052179;AF055002;AF493881;AK000620;AK057838;AK057875;AK130737;AK293553;AK296020;AK297792;AL136379;AMYH01001791;BC009247;BC010415;BC010429;BC011358;BF337061;BG421840;BM353046;BM844480;BQ935470;BQ949763;BT007393;CH471098;M36340;M84326;M84327;M84332;NM_001024226;NM_001024227;NM_001024228;NM_001658 AAA35511;AAA35512;AAA35552;AAC09356;AAC28623;AAH09247;AAH10429;AAH11358;AAM12595;AAP36057;BAG57030;BAG58790;BAG60132;CAL38139;CAL38339;CAL38472;CAL38588;EAW69831;EAW69832;EAW69833;EAW69834;EAW69835;EAW69836;NP_001019397;NP_001019398;NP_001019399;NP_001649;P84077 Hs.286221 1660877;1677110;1677112;1686678;1795382 ARF1_1579;D1S3252;RH64921;RH79647;RH80951 ADP-ribosylation factor 1;OTTHUMP00000035715 APPROVED protein-coding ENSG00000143761 652 00054 103180 REVIEWED 1354397 ARF3 ADP-ribosylation factor 3 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. [provided by RefSeq, Jul 2008] 12 12 q13 47616259 47637577 - 49329992 49351252 - 6480464 8947846;1744102;16713569;16396496;15489334;12477932;12135740;12090300;10828067;10749927;10623590;10506747;10413101;9038142;8661066;8491770;8473323;8355790;2474826;2105501;1577740;1447192;12221117;11124697;22586326;20357002;19913121;20628086;22939629;19135240;18781797;20360068;21906983;14690499;19322201;22505724 377 B7ZB63;F5H0C7;F5H1V1;F5H423;F5H6T5;P61204 ABBA01031494;ABBA01031495;AC073610;AF493882;AK291633;AK303726;AK316528;AMYH01004436;BC007647;BC007762;BC017565;BC028402;BM966960;BT006670;CH471111;M74491;M74492;M74493;NM_001659 AAA58359;AAB59425;AAH07647;AAH07762;AAH17565;AAH28402;AAM12596;AAP35316;ACE87829;ACT64578;BAF84322;BAG64702;BAH14899;EAW58025;EAW58026;EAW58027;NP_001650;P61204 Hs.119177 1645937;1795384;1797294;2118763;2177219;2178572;2182576 ARF3_53;ARF3_53.2;G10609;RH46941;SGC30712;STS-M79003;WI-7107 ADP-ribosylation factor 3;OTTHUMP00000165241;OTTHUMP00000237838;OTTHUMP00000237839;OTTHUMP00000237840;small GTP binding protein APPROVED protein-coding ENSG00000134287 654 00056 103190 REVIEWED 1352328 ARF4 ADP-ribosylation factor 4 This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.2-p21.1 57532130 57558118 - 57557090 57583215 - 1580863;6480464 2107548;19041174;16344560;15489334;15049518;12477932;12446727;11481332;10828067;10593962;10524252;10099884;9180902;8491770;8355790;7956370;2105501;1899243;1447192;19615732;20881058;17314511;19167051;20360068;22004728;22105072;18781797;21139048;21890473;21906983;22185782;19322201;21145461;21319273;21963094;21988832;22304920;21853274;22952844 378 C9J6P1;C9JAK5;C9JPM4;F8WCJ5;F8WDB3;P18085 ABBA01024413;ABBA01024414;AC092418;AC114480;AF104238;AF493883;AK313008;AMYH01013223;BC003364;BC008753;BC016325;BC022866;CH471055;DA259855;M36341;NM_001660;U91920;U91921 AAA53081;AAD54674;AAH03364;AAH08753;AAH16325;AAH22866;AAM12597;ABM85008;ABW03653;BAG35844;EAW65344;NP_001651;P18085 Hs.652183 1658200;1740229;1740235;1788756;1795386;2112606;2135882;2151080;7186210 ARF4_55;D3S1623;D3S1637;D3S3904;D3S4365;HUMD2F08NC;RH129652;RH69960 ARF2 ADP-ribosylation factor 2;ADP-ribosylation factor 4;OTTHUMP00000213140;OTTHUMP00000213142;OTTHUMP00000213211 APPROVED protein-coding ENSG00000168374 655 03107 601177 REVIEWED 732462 ARF5 ADP-ribosylation factor 5 This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010] 7 7 q31.3 127015753 127018988 + 127228406 127231759 + 6480464;6484113 1993656;15489334;12690205;12477932;11926829;11535061;10828067;10749932;10593962;10589680;10022920;9169151;9038142;8491770;8355790;2105501;1447192;11478794;17030804;15146197;17567994;23532257;16396496;22360420;21139048;21890473;21906983;22105072;22185782;19322201;18685082;21963094;22623428;16148947;21853274;22815487;22573888 381 A4D0Z3;C9J1Z8;P84085 AACC02000001;ABBA01057684;AC000357;AF493884;AK297026;AK307297;AK308548;AK312107;AMYH01017911;BC003043;BC033104;BT007087;CH236947;CH471070;CN259625;M57567;NM_001662;U73002 AAA90927;AAC51299;AAH03043;AAH33104;AAM12598;AAP35750;BAG35043;BAG59555;EAL24320;EAW83630;EAW83631;NP_001653;P84085 Hs.653202 1661510;1801082;1814786;1816142;1822734;1824976;1825998;1831878;2088786;2088788;2088790;2088792;2088794;2088796;2088798;2088800;2088802;2088804;2088806;2088808;2088810;2088812;2088814;2088816;2088818;2088820;2088822;2088824;2088826;2088828;2088830;2088832;2118210;2122371;2196926;2196928;2196930;5095122;5491615 ARF5;D7S2378;D7S2779;ECD01410;ECD08424;ECD09111;ECD12455;ECD13587;ECD14108;ECD17077;MARC_26030-26031:1032381284:1;REN115652;REN115653;REN115654;REN115655;REN115656;REN115657;REN115658;REN115659;REN115660;REN115661;REN115662;REN115663;REN115664;REN115665;REN115666;REN115667;REN115668;REN115669;REN115670;REN115671;REN115672;REN115673;REN115674;REN115675;RH69260;stSG613722;stSG613724;stSG613725 ADP-ribosylation factor 5;OTTHUMP00000024864;OTTHUMP00000196795 APPROVED protein-coding ENSG00000004059 658 00055 103188 REVIEWED 1314646 ARFGAP2 ADP-ribosylation factor GTPase activating protein 2 11 11 11 p11.2-p11.12 47325090 47337647 - 47142428 47154995 - 47185849 47198676 - 1580863;6480464;6907045 19299515;19015319;17760859;16903783;15489334;14702039;14690497;12880961;12477932;11278321;16341674;18029348;20858901;21182205;21139048;21890473;22375848;23383273 84364 B4DX29;B7Z9M7;E9PIY6;E9PJT7;E9PK28;E9PM18;E9PM63;E9PMR9;E9PMU9;E9PN48;E9PNY8;E9PQP3;G5E9L0;H0YCA3;H0YCL1;H0YDN9;H0YDX1;H0YF45;Q8N6H7 AB073358;ABBA01060721;AC090589;AK027482;AK098324;AK129511;AK300347;AK301785;AK304541;AK315992;AL834337;AMYH01003539;AMYH01003540;BC030148;BC036823;BM827445;CD366084;CH471064;NM_001242832;NM_032389 AAH30148;ACE86922;ACE87609;BAB55144;BAE45716;BAG53612;BAG63241;BAG65339;BAH13265;BAH14363;CAD39004;EAW67963;EAW67964;EAW67965;EAW67966;EAW67967;EAW67968;NP_001229761;NP_115765;Q8N6H7 Hs.436204 1650971;1679706;1686570;2134341;2161404;2191007;5114561;5491407 D11S3969;D11S4059;G09831;MARC_10267-10268:998918113:1;MARC_12871-12872:1000494470:1;RH10546;RH98304;T03584 FLJ14576;FLJ26000;IRZ;Nbla10535;ZNF289;Zfp289 ADP-ribosylation factor GTPase-activating protein 2;ARF GAP 2;GTPase-activating protein ZNF289;OTTHUMP00000234176;OTTHUMP00000234226;putative protein product of Nbla10535;zinc finger protein 289, ID1 regulated protein-coding ENSG00000149182 13504 06069 606908 VALIDATED 734181 ARF6 ADP-ribosylation factor 6 This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008] 14 14 q21.3 49429486 49433522 + 50359736 50363772 + 6480464;6484113;6907045 15489334;15231847;15210957;15087504;14675422;14662749;14659046;14625293;14607973;12902467;12860984;12847086;12799371;12526811;12477932;12379803;12032069;12016212;11926829;11867621;11535061;11533043;11278939;11266366;11042152;10749932;10589680;10343114;10022920;9653160;9461590;9417041;8491770;8355790;7990966;7898460;7855600;7589240;2105501;15465916;14617802;15638726;10913182;1993656;9312003;10036235;8702973;19327867;19276089;19264606;19211056;19155310;19033387;18814847;18597672;18326492;18094045;18084281;18000860;17719203;17640372;17628206;17623778;17461797;17157409;17122362;17077126;16737952;16669702;16545942;16527809;16484220;16461286;16344560;16341674;16213822;16099990;15897187;15817676;15802264;15590645;21346189;11478794;12509462;17353931;10480924;22219378;22558309;22523074;22666423;20727515;15509780;16148947;16415858;17030804;17643375;18511905;19359423;19365558;19642173;19644450;19666113;19738201;19855388;19948740;20018626;20089652;20385769;20510928;20462959;20029029;20601426;20709080;22226746;20525696;20848231;21148312;20713492;20945365;14978216;21832049;22916275;22962618;23383273;21634118;17398095;21439824;21438025;21790911;21858086;21795701;22085542;22522702;22580824;21139048;21890473;21906983;22188517;22170068;18199687;18685082;22781129;22053287;23095975;21963094;22931251;23000965;23295182;23603394;19149577;20622010;21853274;21917951;22701712 382 P62330 ABBA01018124;AF047432;AF493885;AK313790;AL117621;AL121163;AL627171;AMYH01005716;AY296206;BC002952;BC008918;BC030291;BM838197;BT019868;CH471078;CR541939;CR541964;DA217686;M57763;NM_001663 AAA90928;AAC39877;AAH08918;AAM12599;AAP50257;AAV38671;BAG36527;CAG46737;CAG46762;EAW65740;NP_001654;P62330 Hs.525330;Hs.719973 1738943;1769645;1795388;2152210;2182960;5124381 ARF6_719;D14S793;RH80260;SHGC-2638;SHGC-64115;SHGC-64342 DKFZp564M0264 ADP-ribosylation factor 6;OTTHUMP00000178980 APPROVED protein-coding 659 02714 600464 REVIEWED 1348298 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011] 8 8 q13 68272451 68418466 - 68109884 68255912 - 1580863;6480464 15644318;10212200;19020088;18417613;18292223;18203920;18003980;17360629;17227842;17081983;17079330;16467138;14973189;14702039;12606707;11013081;10393931;8917509;8889548;10716990;12571360;18832381;19651892;20379614;16417406;20818722;20668708;21871176;18029348;22084092;21139048;21890473;23000965;23386609;23220274;22190034 10565 E5RHL7;E5RHZ1;E5RIF2;E5RJB2;E5RJN9;Q9Y6D6 AB209324;ABBA01041894;ABBA01041895;ABBA01041896;ABBA01041897;ABBA01041898;AC021321;AC087359;AF084520;AF111162;AI523655;AI692863;AI797683;AK001788;AK022557;AK025637;AK123660;AK127799;AL117446;AMYH01018777;BE048435;CA314908;CH471068;NM_006421 AAD38427;AAD43651;AAI72243;BAA91912;BAD92561;BAG51091;CAB55931;EAW86935;EAW86936;NP_006412;Q9Y6D6 Hs.656902 1657544;1667989;1683317;1689035;1722041;1724981;1735772;2108697;2128723;2154165;2171510;2187237;5092888 A009B39;ARFGEF1_9142;D8S1378E;G06218;G17212;G32393;G59907;L17871;RH118724;RH36443;RH91158;RH93991;WIAF-2084 ARFGEP1;BIG1;D730028O18Rik;DKFZP434L057;P200 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited);OTTHUMP00000227052;OTTHUMP00000227095;brefeldin A-inhibited GEP 1;brefeldin A-inhibited guanine nucleotide-exchange protein 1;p200 ARF guanine nucleotide exchange factor;p200 ARF-GEP1 APPROVED protein-coding ENSG00000066777 15772 09163 604141 REVIEWED 1352175 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 q13.33 61374610 61391587 + 61904165 61921142 + 1580863;6480464;6484113;6907045 16956762;11031247;8533093;19299515;19055691;19015319;18541532;16964243;16571680;16316994;15790807;15489334;15302935;15246431;14702039;12477932;12379802;12181329;11780052;11703931;11210549;10704287;9733781;9476900;9405360;8125298;7969419;16169070;21499258;17207965;21832049;22863883;22423108;21900206;19338310;21963094;21988832;21139048;21906983;18029348;22363216 55738 B7Z8H8;E5RGL6;E5RHC5;E5RHH7;E5RHT6;E5RIU2;E7EV62;F8VWB3;F8VWH9;F8W1U7;H0YIQ0;Q9UIL0 AA565406;AB015340;ABBA01021393;AK001629;AK027268;AK027441;AK095048;AK123367;AK223427;AK296351;AK303454;AK308161;AL121827;AL137744;AMYH01012075;AMYH01012076;AY927573;BC000786;BC006085;BC011876;BC028233;BC127893;BQ717837;CH471077;DC300118;DC404137;NM_001281482;NM_001281483;NM_001281484;NM_018209;NM_175609;NR_104022;NR_104023 AAH00786;AAH06085;AAH11876;AAH28233;ADQ31806;BAA88117;BAA91796;BAB55009;BAB55113;BAD97147;BAH12326;BAH13964;CAB70901;EAW75290;EAW75291;EAW75292;EAW75293;EAW75294;EAW75295;EAW75296;NP_001268411;NP_001268412;NP_001268413;NP_060679;NP_783202;Q8N6T3 Hs.25584 2219000 ARFGAP1__4350 ARF1GAP;HRIHFB2281;MGC39924 ADP-ribosylation factor 1 GTPase activating protein;ADP-ribosylation factor 1 GTPase-activating protein;ADP-ribosylation factor GTPase-activating protein 1;ARF GAP 1;ARF1 GAP;ARF1-directed GTPase-activating protein;GAP protein;OTTHUMP00000031551;OTTHUMP00000196668;OTTHUMP00000196669;OTTHUMP00000226307;OTTHUMP00000226309;OTTHUMP00000226310;OTTHUMP00000243517 APPROVED protein-coding ENSG00000101199 15852 06443 608377 REVIEWED 736641 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008] 20 20 q13.13 46971682 47086637 + 47538275 47653230 + 1300288;1580863;6480464;7240710 14647276 10212200;12571360;18625701;18417613;18003980;17360629;17276987;17081983;16320251;15705715;15302935;15231748;14702039;12477932;12051703;11780052;11777925;11665623;11013081;10716990;18832381;12606707;15198677;18203920;19384555;20360857;21309479;22863883;16866877;15385626;16477018;21890473;23383273;21139048;22623531;23386609;22190034;22908276 10564 Q59FR3;Q86TH5;Q9Y6D5 AB209397;ABBA01052729;ABBA01052730;AF084521;AK022623;AK074303;AK302526;AL049537;AL121903;AMYH01011960;AMYH01011961;AMYH01011962;BC050449;BC144625;BC144626;CH471077;NG_011490;NM_006420 AAD38428;AAH50449;BAD92634;BAG51099;BAG63799;EAW75680;EAW75681;NP_006411;Q9Y6D5 Hs.62578 1645537;1655985;1660323;1671139;2148054;2177431;2184527;5022200;5022578 AL030970;AL031485;D1S1423;G18085;L18426;SHGC-52869;SHGC-64065;STS-R64296;WI-17563 BIG2;FLJ23723;PVNH2;dJ1164I10.1 OTTHUMP00000031231;brefeldin A-inhibited GEP 2;brefeldin A-inhibited guanine nucleotide-exchange protein 2 APPROVED protein-coding ENSG00000124198 15853 09250 605371;608097 REVIEWED 1605759 ARGFX arginine-fifty homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 119696469 119719151 + 122769468 122792159 + 121286778 121309469 + 17005330;20565723 503582 A6NJG6 ABBA01016481;AC069239;AMYH01013425;BX282631;NM_001012659 A6NJG6;NP_001012677 Hs.224976 5015404;5015619;5015861;5020946;5021228;5021872;5022578;5024413;5037552;5117897;5118444;5118800;5120437;7185938 D10S16;D11S3114;D11S3316;D11S3663;D1S1423;D8S2279;GDB:312794;GDB:315881;GDB:631813;L17705;L17877;L17971;sY3084 OTTHUMP00000215153;arginine-fifty homeobox APPROVED protein-coding 30146 18525 611164 VALIDATED 1344539 ARFGAP3 ADP-ribosylation factor GTPase activating protein 3 The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008] 22 22 22 q13.2 27103053 27163910 - 41522476 41583244 - 43192532 43253408 - 1580863;6480464;6907045 11172815;18029348;19299515;19015319;17760859;17081983;15761153;15489334;15461802;14702039;12529303;12477932;10704287;10591208;8076819;21832049;20379614;21139048;21890473;21647875 26286 B0QYV8;B0QYV9;C9JZR4;H0Y6A0;Q9NP61 ABBA01017923;ABBA01017924;AF111847;AK002083;AK022768;AK127525;AK297635;AK300531;AK307967;AK315720;AL049757;AL049758;AL137598;AL159143;AMYH01012823;BC005122;BC041383;BI547713;BQ019944;CA431867;CH471138;CR456382;DB458974;NM_001142293;NM_014570 AAF40310;AAH05122;ABM83933;ABM87252;BAA92076;BAB14236;BAH12636;BAH13298;CAB70834;CAB76901;CAG30268;CAK54371;CAK54670;EAW73275;EAW73276;NP_001135765;NP_055385;Q9NP61 Hs.685225 1657911;1687518;2142428;2142832;2219002;5019643;5022322;5022651;5037552;5109281 A006B18;ARFGAP3__4351;D11S2560;D11S2921;D1S1425;D8S2279;G06276;G29271;G32316;RH91173 ARFGAP1;FLJ45618 ADP-ribosylation factor GTPase activating protein 1;ADP-ribosylation factor GTPase-activating protein 3;ARF GAP 3;OTTHUMP00000198439;OTTHUMP00000221483 APPROVED protein-coding ENSG00000242247 661 06444 612439 REVIEWED 1605758 ARGFXP1 arginine-fifty homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 5 5 5 q23.2 117966257 117971118 + 122039194 122044258 + 122011396 122016260 + 17005330 503583 ABBA01068951;AC093267;AMYH01015587;NG_004853 1644390 D5S2313 APPROVED pseudo 17252 INFERRED 1602609 ARGFXP2 arginine-fifty homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 27388246 27389460 - 27501489 27502703 - 30477376 30478590 - 17005330 503640 AA613199;ABBA01000704;AC116407;AMYH01008331;NR_002222 Hs.631752 APPROVED pseudo 23977 PROVISIONAL 1349532 ARFIP2 ADP-ribosylation factor interacting protein 2 11 11 11 p15 6615970 6621655 - 6453486 6459171 - 6495913 6502709 - 1580863;6480464;6484113 15809304;8670882;9312003;16189514;15489334;12477932;11854752;11478794;11346801;9038142;12972563;22679020;22558309;22863883;16344560;21832049;21139048;11792819 23647 B4DUZ3;B4DXH2;E9PPY7;E9PRV8;P53365 ABBA01028669;AC084337;AK026390;AK300855;AK301856;AK301972;AK304512;AK309198;AK310267;AK310833;AK311004;AK311086;AK311655;AMYH01003367;AW612115;BC000392;BG745048;BM928413;BU627585;CH471064;DB099222;NM_001242854;NM_001242855;NM_001242856;NM_012402;U52522;X97567 AAA97924;AAH00392;ABM82893;ABM86082;BAG62505;BAG63298;BAG63384;BAG65318;CAA66179;EAW68707;EAW68708;NP_001229783;NP_001229784;NP_001229785;NP_036534;P53365 Hs.732203;Hs.75139 1667454;1699180;2114624;2126269;2152826;5022200;5022651 D11S2921;IB2126;L18426;RH103170;RH11646;STS-Z40796;WI-22461 FLJ18046;FLJ18697;FLJ99239;POR1 ADP-ribosylation factor-interacting protein 2;OTTHUMP00000164590;OTTHUMP00000231513;arfaptin 2;arfaptin-2;partner of RAC1 (arfaptin 2) protein-coding 17160 07209 601638 VALIDATED 732747 ARFIP1 ADP-ribosylation factor interacting protein 1 4 4 4 q31.3 151025104 151157752 + 153920562 154052514 + 153701112 153833064 + 1580863;6480464 12606037;9038142;16396496;15489334;15146197;14702039;12477932;11337467;10413101;9694811;16712791;22863883;21110914;22118674;21890473;21906983;21628590 27236 B4DS69;B4E273;P53367 ABBA01070127;ABBA01070128;AC099339;AC106882;AC113155;AF124489;AK096509;AK290472;AK299600;AK304141;AK316125;AMYH01014624;AMYH01014625;AU099007;BC103759;BC105114;BC105116;BC143675;BC143676;CB127228;CH471056;CN305403;NM_001025593;NM_001025595;NM_014447;U52521 AAA97923;AAD29390;AAI03760;AAI05115;AAI05117;AAI43676;AAI43677;BAC04806;BAF83161;BAG61531;BAG65035;BAH14496;EAX04968;EAX04969;EAX04970;EAX04971;EAX04972;NP_001020764;NP_001020766;NP_055262;P53367 Hs.416089 1339232;1686104;1687285;1848936;7186915 D4S1058;D4S1588;RH98783;SHGC-67318 HSU52521;MGC117369 ADP-ribosylation factor-interacting protein 1;OTTHUMP00000220280;OTTHUMP00000220282;OTTHUMP00000220283;arfaptin 1;arfaptin-1 protein-coding ENSG00000164144 21496 09331 605928 VALIDATED 732355 ARFRP1 ADP-ribosylation factor related protein 1 The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] 20 20 20 q13.3 59014256 59023609 - 61801253 61809809 - 62329995 62339365 - 727256;1580863;6480464 8530503 15489334;17127620;16129887;15761153;11438518;15077113;14702039;12477932;11780052;10655513;10092663;19224922;22505585 10139 B7ZKY8;H0Y2L5;Q13795 ABBA01021416;AF217796;AK095962;AL121845;AL522492;AL533893;AL833084;AMYH01012089;AMYH01012090;AW139294;BC021023;BC092480;BC093967;BC143447;BC143448;BC143467;BC143472;BC143477;BI524032;BI711667;BI819763;BM546222;BM549361;BP384879;BT019624;BT019663;BU526941;BX342690;BX342805;BX463457;CA489361;CH471077;CR456752;NM_001134758;NM_001267544;NM_001267545;NM_001267546;NM_001267547;NM_001267548;NM_001267549;NM_003224;NR_051954;NR_051955;NR_051956;NR_051957;NR_051958;X91504 AAF35246;AAH92480;AAH93967;AAI43448;AAI43449;AAI43468;AAV38430;AAV38469;BAG53176;CAA62804;CAG33033;EAW75230;EAW75231;EAW75232;EAW75233;EAW75234;EAW75235;EAW75236;EAW75237;NP_001128230;NP_001254473;NP_001254474;NP_001254475;NP_001254476;NP_001254477;NP_001254478;NP_003215;Q13795 Hs.389277 2108587;2144442 SHGC-64071;TNFRSF6B_2708 ARL18;ARP;Arp1 ADP-ribosylation factor-related protein 1;ARF-related protein 1;OTTHUMP00000031584;SCG10 like-protein;helicase-like protein NHL APPROVED protein-coding ENSG00000101246 662 05264 604699 REVIEWED 1353986 ARG1 arginase 1 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 6 6 q23 131936058 131947161 + 131894344 131905472 + 1580863;1599208;1599211;2300098;4143185;4143230;4142795;4143187;631755;70249;4143282;4142796;634666;4144054;4144044;4142834;4142848;4143279;631989;1626298;4140476;4143368;1626296;5129205;5129207;6480464;6484113;6907045;7240710 7649538;16872590;4062872;17023552;15916970;20697209;12813022;12470967;11779202;18552509;20593143;12069499;9688940;12654563;18475148;17967788;19666777;12371970;11931836;17210712;17365572;17223136;20124949;16387594 3540966;19303401;19286931;19281908;19258923;19253371;18957279;18617639;17934065;17703412;17469833;17369504;17347269;17255300;17119118;17113085;16720041;16709958;15998894;15489334;14702039;14574404;12477932;12139964;12115381;12083807;11849441;11750286;11224628;10542097;10502833;9686347;3752085;3658675;3174433;2913054;2365823;2241902;1598908;1463019;22298472;21217072;21330347;18478052;19101531;19282757;19293328;19431148;19508396;19615732;19636440;19684035;19687346;19789190;19801451;19896478;19936428;20032293;20153713;20473875;20503287;20200399;20661013;19913121;20628086;20851928;21039601;19713467;20562859;20711410;20301338;20942574;21552555;21206033;21988832;23505904;11329013;21800051;21870783;21182205;21533769;19052914;21139048;21945700;22118674;23454751;22189190;22145905;21704615;22827286;23061982;22582175;22959135;23111165;22869115 383 P05089 ABBA01025891;AK128314;AL121575;AMYH01016674;AW236349;AY074488;BC005321;BC020653;BG217880;BG542163;BT006741;CH471051;M14502;NG_007086;NG_031860;NM_000045;NM_001244438;X12662 AAA51776;AAH05321;AAH20653;AAL71547;AAP35387;ABM82965;ABM86156;CAA31188;EAW48053;EAW48054;EAW48055;EAW48056;NP_000036;NP_001231367;P05089 Hs.440934 1668724;1674328;1742075;1742431;1852440;2140260 GDB:190876;GDB:196989;RH46810;SGC38314;SHGC-16174;STS-M14502 OTTHUMP00000017209;OTTHUMP00000017210;OTTHUMP00000017211;arginase 1;arginase-1;liver-type arginase;type I arginase APPROVED protein-coding ENSG00000118520 663 01947 207800;608313 REVIEWED 732329 ARG2 arginase 2 Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008] 14 14 q24.1 67156332 67188190 + 68086579 68118437 + 734607;1580863;1300048;1626297;1626296;1626298;4143269;631989;4143187;4144054;4142834;4143274;4144088;4143282;4110828;5129207;5129205;4143278;6480464;6902923;6907045 9686347;9635249;17223136;11931836;12841630;12371970;12813022;9688940;18475148;20699748;19764983;18552509;16809898;16387594;20124949;20039818;21926276 9144563;8898077;19281908;18528866;18348861;18202758;17353439;16720041;16675494;16128822;15955070;15489334;15364894;12859189;12477932;11849441;11370664;9256072;8954792;21130456;19284655;19508396;19636440;19684035;19789190;19801451;20071203;20542107;20861464;20877624;21039601;20107769;20711410;20853600;22447968;22008221;23424623;22815199;22157935;22391327;21139048;22712848;23122700 384 P78540 ABBA01023707;AK312484;AL049779;AL132640;AL135439;AMYH01005815;AMYH01005816;AY074489;BC001350;BC008464;BC029050;CH471061;CR536550;D86724;HI574250;NG_011964;NM_001172;U75667;U82256 AAB39855;AAC51664;AAH01350;AAH08464;AAH29050;AAL71548;BAA13158;BAG35387;CAG38787;CBX47614;EAW80943;EAW80944;NP_001163;P78540 Hs.226007 1651497;1660435;1661399;1736444;1736472;1754183;1777644;1851799;2115946;2133381;2149917 A007B39;D14S1294;D14S707E;D14S721E;G35422;G36051;RH44731;RH68231;SHGC-132208;WI-18578;WI-19297 L-arginine amidinohydrolase;L-arginine ureahydrolase;OTTHUMP00000246880;arginase 2;arginase, type II;arginase-2, mitochondrial;kidney arginase;kidney-type arginase;non-hepatic arginase;nonhepatic arginase;type II arginase APPROVED protein-coding ENSG00000081181 664 00143 107830 REVIEWED 1322908 ARHGAP10 Rho GTPase activating protein 10 4 4 4 q31.23 145974548 146315244 + 148872903 149213377 + 148653453 148993927 + 737633;6480464 12477932 15471851;11432776;8288572;22610502;19911011;20031603;20158304;20332263;20379614;15161933;21906983 79658 A1A4S6;E7EUW5;H0Y8W5 AB050785;ABBA01070059;ABBA01070060;ABBA01070061;ABBA01070062;ABBA01070063;AC093678;AC093835;AC115621;AC125241;AK024549;AK123034;AK123785;AK130998;AK304458;AL834360;AMYH01014602;AMYH01014603;AMYH01014604;AMYH01014605;BC011920;BC047914;BC106018;BC109029;BC109030;BC126899;BC128055;BX647727;CH471056;CR457328;NM_024605 A1A4S6;AAH11920;AAH47914;AAI06019;AAI09030;AAI09031;AAI26900;AAI28056;BAB14924;BAB61771;BAG53857;BAG65274;CAD39024;CAG33609;EAX05009;EAX05010;NP_078881 Hs.368631 1339556;1341617;1643602;1650373;1651685;1666511;1668280;1727695;1763447;1763449;1851390;2123986;2125463;2153594;2177763 D4S3014;D4S3031;D4S3218;G33906;G34307;G63261;RH48780;SHGC-147160;SHGC-147161;SHGC-25164;SHGC-57571;SHGC-59314;SHGC-8151;SHGC4-1567;STS-R60782 FLJ20896;FLJ41791;GRAF2;PS-GAP;PSGAP GTPase regulator associated with focal adhesion kinase 2;OTTHUMP00000220267;graf-related protein 2;rho GTPase-activating protein 10;rho-type GTPase-activating protein 10 protein-coding ENSG00000071205 26099 07949 609746 VALIDATED 1351374 ARHGAP16P Rho GTPase activating protein 16 pseudogene 14 14 14 q21.2 23924849 23925629 + 43134308 43135288 + 44064658 44065438 + 319102 ABBA01018029;AL358913;AMYH01005696;NG_002492 ARHGAP15P pseudo 19921 INFERRED 1605984 ARGLU1 arginine and glutamate rich 1 13 13 13 q33.3 88039892 88064742 - 105993663 106018515 - 107195662 107220514 - 6480464 15302935;14702039;12477932;21319273;17332742;20098747;17207965;21454576;21832049;21139048;19322201 55082 Q5T256;Q9NWB6 AA445997;ABBA01027048;AI623424;AK001016;AL442127;AMYH01005357;AMYH01005358;BC030508;BC050434;BC071587;CH471085;CR936748;DB482545;NM_018011 AAH50434;AAH71587;ADQ33089;BAA91467;EAX09086;EAX09087;NP_060481;Q9NWB6 Hs.508644;Hs.743957 1707586;1849599;5022578;5022588 D1S1423;D5S1597E;RH44738;SHGC-84605 DKFZp686O08106;FLJ10154;RP11-297I6.1 OTTHUMP00000018683;arginine and glutamate-rich protein 1 protein-coding 25482 07648 614046 VALIDATED 1350534 ARHGAP11B Rho GTPase activating protein 11B 15 15 q13.2 28706171 28718305 + 30918879 30931013 + 6480464 12477932;11829490;8889549 89839 Q3KRB8 ABBA01038317;ABBA01038318;AC091057;AK310319;AMYH01006503;BC071990;BC105788;NM_001039841 AAI05789;NP_001034930;Q3KRB8 Hs.659621 1653367;1688124;1699844;1716483;1765371;1847117;2143742;2161823;2162498;2163842 D3S3152;G17839;G17845;RH103529;RH121527;RH77819;RH78987;SHGC-148860;SHGC-37549;STS-N90222 B'-T;D-X;FAM7B1;MGC104367 GAP (1-8);family with sequence similarity 7, member B1;rho GTPase-activating protein 11B;rho-type GTPase-activating protein 11B protein-coding ENSG00000187951 15782 PROVISIONAL 1314470 ARHGAP1 Rho GTPase activating protein 1 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012] 11 11 p11.2 46655206 46678696 - 46698625 46722215 - 1580863;6480464 8253717;12901880;8288572;18029348;19103606;19066281;18619034;18579725;18060510;16189514;15588985;15489334;15282546;15262974;15169898;14724572;14718574;14702039;14697242;12501193;12477932;11741952;10954711;10799524;10555980;10551883;9548756;9407060;9268338;9262406;9034330;9009196;8805223;1905930;1903516;9535855;9427749;12944407;15652341;19801982;19911011;9338791;9846874;20660160;21169361;21051874;23175628;21139048;21890473;21906983;22504420;10843989;11311150;11523996;15596440;16331259;16380373;17222083;17611651;18331715;19302816;9599009;9799731;10684602;19805454;21988832;23000965;23200924 392 E9PNR6;H0YE29;Q07960 ABBA01060733;AC115088;AI640658;AK126404;AK298562;AK307296;AK310605;AMYH01003536;BC018118;CH471064;HY004921;NM_004308;U02570;U62794;Z23024 AAA16142;AAB66594;AAH18118;ABM85071;BAG60756;CAA80560;EAW67982;EAW67983;EAW67984;NP_004299;Q07960 Hs.138860 1651947;5024761;5037552 D8S2279;RH36905;RH79109 CDC42GAP;RHOGAP;RHOGAP1;p50rhoGAP CDC42 GTPase-activating protein;GTPase-activating protein rhoGAP;GTPase-activating protein rhoOGAP;GTPase-activating protein, Rho, 1;OTTHUMP00000233485;OTTHUMP00000233486;p50-RhoGAP;rho GTPase-activating protein 1;rho-related small GTPase protein activator;rho-type GTPase-activating protein 1 APPROVED protein-coding ENSG00000175220 673 04108 602732 REVIEWED 7243277 ARHGAP19-SLIT1 ARHGAP19-SLIT1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 20967262 100533184 AA431797;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;ABBA01021819;AL359385;AL512424;AMYH01002976;AY336750;NR_037909 AAR02412 Hs.80305 1683271 RH92281 miscrna 48348 VALIDATED 1348610 ARHGAP15 Rho GTPase activating protein 15 RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008] 2 2 2 q22.2-q22.3 137599271 138238118 + 143603433 144242391 + 143886899 144525921 + 6480464 15761153;15459234;15342556;12650940;12477932;11042152;8125298;18482256;19197348;20379614;20468071;18541383;21297076;22505724 55843 B8ZZK0;H7BZM0;Q8IXX1 ABBA01028062;ABBA01028063;ABBA01028064;ABBA01028065;ABBA01028066;ABBA01028067;ABBA01028068;ABBA01028069;ABBA01028070;AC013437;AC079584;AC079793;AC092652;AC096558;AC098857;AC109639;AF212222;AF217507;AF217522;AK226014;AK303490;AK308219;AMYH01011144;AMYH01011145;AY219338;BC016701;BC038976;BP299206;CH471058;NM_018460 AAF67618;AAF67633;AAF87324;AAH16701;AAH38976;AAO34684;AAX82009;AAX93158;AAX93160;AAX93245;AAY14811;AAY24215;BAG64525;EAX11587;EAX11588;EAX11589;EAX11590;NP_060930;Q53QZ3 Hs.171011 1336624;1647184;1661231;1681145;1682447;1712975;1713533;1724035;1750501;1753591;1777094;1858235;1956008;2114820;2162961;2169742;2183522 D2S122;D2S1308;D2S1738;REN48866;RH119028;RH120252;RH120577;RH35973;RH79251;RH92102;RH93106;SHGC-107502;SHGC-111811;SHGC-23090;SHGC-23101;SHGC-64284;STS-AA040807 BM046 OTTHUMP00000162669;rho GTPase-activating protein 15;rho-type GTPase-activating protein 15 APPROVED protein-coding ENSG00000075884 21030 06447 610578 VALIDATED 1602334 ARHGAP11A Rho GTPase activating protein 11A 15 15 15 q13.2 9717343 9733551 + 30694983 30719160 + 32907691 32931868 + 6480464 16565220;15489334;12477932;11829490;7584028;7584026;15778465;15782160;17207965;19471022;23000965;23251661 9824 B4DZN9;H3BQ41;H3BR51;Q6P4F7 ABBA01038563;AC123768;AK303025;AK316437;AMYH01006505;BC039563;BC050545;BC063444;CH471125;D87717;NM_014783;NM_199357 AAH39563;AAH63444;ACT64423;ACT64424;ADQ31984;BAA13442;BAG64151;BAH14808;EAW92260;NP_055598;NP_955389;Q6P4F7 Hs.591130 1653367;1687003;2106431;2161823;2162498;2164846;2181650;5022651;5037552 ARHGAP11A__4355;D11S2921;D8S2279;RH17370;RH25252;RH78987;SHGC-35411;SHGC-37549;STS-N90222 KIAA0013;MGC70740 GAP (1-12);OTTHUMP00000159622;rho GTPase-activating protein 11A;rho-type GTPase-activating protein 11A protein-coding ENSG00000198826 15783 10656 610589 VALIDATED 1320676 ARHGAP12 Rho GTPase activating protein 12 This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 10 10 10 p11.22 31860349 31982898 - 32135231 32257776 - 32094326 32217804 - 6480464 15492870;16344560;8619474;8889548;9110174;18984674;15489334;15345747;15144186;14702039;12477932;12297274;11854031;16385451;18504429;21906983 94134 H0Y5D8;Q1RLN5;Q9NT76 ABBA01033395;ABBA01033396;AF131804;AK000744;AK001833;AK025438;AK091182;AK127611;AK315066;AL137485;AL390715;AL834250;AMYH01002222;AY033594;AY033595;BC051811;BC094719;BC115362;BC115363;BM693575;BX641115;CH471072;CR936681;DB062438;NM_001270695;NM_001270696;NM_001270697;NM_001270698;NM_001270699;NM_018287 AAH51811;AAH94719;AAI15363;AAI15364;AAK52311;AAK52312;BAA91932;BAB15131;BAG52300;CAB70766;CAD38926;CAE46053;EAW85979;EAW85980;EAW85981;EAW85982;EAW85983;EAW85984;EAW85985;NP_001257624;NP_001257625;NP_001257626;NP_001257627;NP_001257628;NP_060757;Q8IWW6 Hs.499264;Hs.741991 1648932;1685730;1695756;1850175;2123813;2218242 ARHGAP12_4356;D10S2484;RH27478;RH44894;SHGC-64280;SHGC-82680 DKFZp779N2050;FLJ10971;FLJ20737;FLJ21785;FLJ45709 OTTHUMP00000019407;OTTHUMP00000019409;OTTHUMP00000019410;rho GTPase-activating protein 12;rho-type GTPase-activating protein 12 APPROVED protein-coding ENSG00000165322 16348 06446 610577 REVIEWED 1312852 ARHGAP18 Rho GTPase activating protein 18 ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010] 6 6 6 q22.33 130644627 130777755 - 129939933 130073063 - 129898240 130031370 - 1580863;5686816;6480464 19065146 22808956;14702039;14574404;12477932;15231747;18987618;15489334;16712791;20664062;21865595 93663 Q8N392 AB053293;ABBA01025911;ABBA01025912;AI337078;AK002195;AK098594;AK307796;AL450310;AL834511;AMYH01016666;AMYH01016667;AMYH01016668;AY643712;BC017223;BC039611;BC052295;BC062417;BC073143;BC101708;BC107416;BC111940;BC143531;BM557223;CB149638;CH471051;NM_033515;Z97352 AAH17223;AAH39611;AAH62417;AAI01709;AAI07417;AAI11941;AAT64914;BAB61887;CAD39167;EAW48076;EAW48077;EAW48078;NP_277050;Q8N392 Hs.486458;Hs.708586 1339019;1650246;1703596;1709616;1709770;1717969;1785824;2132339;2218244 ARHGAP18_4357;D6S1470;D6S1620;RH122811;SHGC-106102;SHGC-64754;SHGC-84700;SHGC-85169;STS-N22224 FLJ25728;MGC126757;MGC138145;MacGAP;SENEX;bA307O14.2 OTTHUMP00000017190;rho GTPase-activating protein 18;rho-type GTPase-activating protein 18 APPROVED protein-coding 21035 12474 613351 VALIDATED 1343283 ARHGAP17 Rho GTPase activating protein 17 RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004] 16 16 16 p12.1 23711720 23807687 - 24838211 24934176 - 24930710 25026675 - 633422;1580863;6480464 10967100 17620599;19531213;16678097;15489334;14702039;12477932;11431473;11285285;11181995;20379614;20936779;21832049;18654987;23182705;23383273 55114 C9IZD3;I3L1S9;I3L3P1;I3L460;I3L4P0;I3L4P6;I3L4Y5;Q9BVF6 ABBA01017107;ABBA01017108;ABBA01017109;ABBA01017110;ABBA01017111;AC008731;AC010545;AF113218;AF163257;AF173885;AF258560;AF258580;AJ306731;AJ306732;AK001170;AK023281;AK027567;AK094886;AK125358;AK291691;AK301055;AK301500;AL833975;AMYH01007394;BC001241;BC080195;BI906519;CH471145;NM_001006634;NM_018054 AAG23763;AAG23783;AAG39289;AAH01241;AAH80195;AAQ13586;AAQ13632;BAB14506;BAB55203;BAC86144;BAF84380;BAG62665;BAG63011;CAC37948;CAC37949;CAD38819;EAW55778;EAW55779;EAW55780;NP_001006635;NP_060524;Q68EM7 Hs.373793 1663010;1691024;1772907;5022651;5109663 D11S2921;D7S2067E;RH64964;RH70317;STS-W92992 DKFZp564A1363;FLJ37567;FLJ43368;MGC87805;MST066;MST110;MSTP038;MSTP066;MSTP110;NADRIN;PP367;PP4534;RICH1;RICH1B;WBP15 RICH-1;RhoGAP interacting with CIP4 homologs 1;neuron-associated developmentally regulated protein;rho GTPase-activating protein 17;rho-type GTPase-activating protein 17;rhoGAP interacting with CIP4 homologs protein 1 APPROVED protein-coding ENSG00000140750 18239 12207 608293 VALIDATED 6480346 ARHGAP22-IT1 ARHGAP22 intronic transcript 1 (non-protein coding) q11.22 14702039 100689073 AK093071 Hs.667964 miscrna 42944 1316310 ARHGAP22 Rho GTPase activating protein 22 This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q11.22 43239986 43398967 - 49324085 49483144 - 49654068 49864310 - 737633;1580863;6480464 12477932 15489334;15254788;14702039;8619474;16385451;20379614;20585324;21310492;22952583;21969604;16344560;21078624;21926414 58504 A6NHM7;A6NJ38;B4DED8;D6R9V6;D6RBJ8;Q7Z5H3 ABBA01047222;ABBA01047223;ABBA01047224;ABBA01047225;ABBA01047226;ABBA01047227;AC016397;AC016399;AC068898;AK055037;AK055937;AK127586;AK293579;AMYH01002636;AMYH01002637;AMYH01002638;AMYH01002639;AY324801;BC047096;BC126444;BC136319;CH471187;DB338179;DC391765;EF560749;NM_001256024;NM_001256025;NM_001256026;NM_021226;NR_045675;U90908 AAB51057;AAI26445;AAI36320;AAP85632;ABQ59059;ADR83111;BAC87044;BAG51453;BAG57049;EAW93125;EAW93126;EAW93127;NP_001242953;NP_001242954;NP_001242955;NP_067049;Q7Z5H3 Hs.655672 1782214;2176351 SHGC-173293;WI-15769 RhoGAP2;RhoGap22 OTTHUMP00000019561;OTTHUMP00000217290;OTTHUMP00000217291;OTTHUMP00000217292;OTTHUMP00000217296;rho GTPase-activating protein 22;rho-type GTPase-activating protein 22 APPROVED protein-coding ENSG00000128805 30320 12476 610585 VALIDATED 1350363 ARHGAP20 Rho GTPase activating protein 20 11 11 11 q23.1 107601250 107736673 - 109952976 110088661 - 110447759 110583912 - 6480464 16014623;15543602;15489334;15234003;14532992;12477932;10718198;20379614;20811636;21500311;22044751;22318606;23291589;23535033 57569 Q8IXS1 AB037812;ABBA01039829;ABBA01039830;ABBA01039831;AI936560;AK292290;AK307602;AMYH01004028;AP001883;AP001980;AP003460;AY496263;AY496264;AY496265;AY496266;AY496267;BC039340;BQ003257;CH471065;EF444953;NM_001258415;NM_001258416;NM_001258417;NM_001258418;NM_020809 AAH39340;AAS45466;AAS45467;AAS45468;AAS45469;AAS45470;ACA05945;ACA05946;ADZ15624;BAA92629;BAF84979;EAW67133;EAW67134;NP_001245344;NP_001245345;NP_001245346;NP_001245347;NP_065860;Q9P2F6 Hs.6136 1656354;1682800;1704564;1767985;1771749;2152141;2168376 D11S4275;RH18243;RH68495;SHGC-83088;WI-13375;WI-18672;WIAF-1688 KIAA1391;RARHOGAP OTTHUMP00000233638;OTTHUMP00000233639;OTTHUMP00000233640;OTTHUMP00000233641;OTTHUMP00000233642;RA and RhoGAP domain containing protein;rho GTPase activating protein 20 variant 2;rho GTPase-activating protein 20;rho-type GTPase-activating protein 20 protein-coding ENSG00000137727 18357 10657 609568 VALIDATED 1322263 ARHGAP21 Rho GTPase activating protein 21 ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008] 10 10 10 p12.1 24564446 24712895 - 24912549 25052550 - 24872538 25012597 - 6480464 17620599;17347647;15793564;14702039;12477932;12056806;10718198;7829101;15778465;21173159;11238453;16385451;19268501;22318733;20195357;23235160;22922005 57584 E7ESW5;F8W9U9;H0Y468;H0Y5T2;Q5JSD8;Q5T5U3 AB037845;ABBA01034447;ABBA01034448;AF480466;AK074589;AK090642;AK295649;AK297278;AK307604;AL355979;AL392104;AL834495;AMYH01002194;AMYH01002195;AV709499;AV709848;BC022931;BC118915;BI491305;BQ026288;BX537570;CH471072;NM_020824 AAH22931;AAI18916;AAM22955;BAA92662;BAG59749;BAH12139;CAD39153;CAD97787;EAW86122;NP_065875;Q5T5U3 Hs.524195 1675395;1683607;1781980;2153569;2183526;5021996;5022450;5105769;5124137 D10S275;D10Ulb1;RH37461;RH45030;RH65067;RH66951;RH68400;SHGC-144197;SHGC-146218 ARHGAP10;DKFZp761L0424;FLJ33323;FLJ90108 OTTHUMP00000019319;OTTHUMP00000019321;Rho-GTPase activating protein 10;rho GTPase-activating protein 10;rho GTPase-activating protein 21;rho-type GTPase-activating protein 21 APPROVED protein-coding ENSG00000107863 23725 06445 609870 VALIDATED 6480967 ARHGAP26-IT1 ARHGAP26 intronic transcript 1 (non-protein coding) 100874372 AC004782 miscrna 41429 1351019 ARHGAP19 Rho GTPase activating protein 19 Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008] 10 10 10 q24.1 92723490 92790901 - 98971920 99042403 - 98981930 99052430 - 6480464 17454002;15489334;15164054;14702039;12693554;12477932;9110174;8619474;16385451;16713569;22939629;16344560;21139048;19322201 84986 C9IZI4;H7BXR8;H7C5Z9;Q8N9X1;R4GMS4;R4GNI4 AA427792;ABBA01021814;ABBA01021815;ABBA01021816;ABBA01021817;ABBA01021818;AK074122;AK090447;AK093316;AK093441;AK303055;AL359385;AMYH01002976;BC007848;BC082250;BC103749;BC113888;BC114490;BI830638;BX648189;BX648194;CD743029;CH471066;CR749412;DB069205;DQ338460;NM_001204300;NM_001256423;NM_032900;U79256 AAI13889;AAI14491;ABC69298;BAB84948;BAC03428;BAC04130;BAC04165;BAG64173;CAH18254;EAW49952;EAW49953;EAW49954;EAW49955;NP_001191229;NP_001243352;NP_116289;Q14CB8 Hs.80305 1646108;1698392;2113088;2219004 ARHGAP19__4358;D10S2453;RH102738;STS-F10974 DKFZp313K217;MGC138804;MGC138805;MGC14258 OTTHUMP00000020188;OTTHUMP00000020189;putative RhoGAP protein;rho GTPase-activating protein 19;rho-type GTPase-activating protein 19 APPROVED protein-coding ENSG00000213390 23724 12475 611587 VALIDATED 6481189 ARHGAP26-AS1 ARHGAP26 antisense RNA 1 5 142239169 142248475 - 100874239 ABBA01026366;AC008533;AMYH01015668;BC039527;NR_046680 Hs.570896 APPROVED miscrna ENSG00000226272 40792 PREDICTED 1320244 ARHGAP23 Rho GTPase activating protein 23 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008] 17 17 17 q12 33274219 33329461 + 33867690 33922154 + 36584720 36668628 + 6480464 16625196;15254754;12477932;10819331;17643375;15146197;16368877;21963094;23444366;23535730;21906983 57636 C9JVU9;F8W040;H0YHF3;H0YHQ9;J3KRL9;J3QLL1;K7ES65;Q9P227 AB040934;ABBA01031919;ABBA01031920;ABBA01031921;ABBA01031922;AC115090;AMYH01008362;BC039190;BM548592;BY795315;CN429246;CN429249;CN429251;CR746382;DN831435;EG328307;NM_001199417;R42869 BAA96025;NP_001186346;Q9P227 Hs.374446 1337023;1683431;1734408;2138310 A004B30;D17S1381E;D17S1836;RH91175 KIAA1501 OTTHUMP00000242673;rho GTPase-activating protein 23;rho-type GTPase-activating protein 23 APPROVED protein-coding ENSG00000225485 29293 610590 VALIDATED 1351716 ARHGAP25 Rho GTPase activating protein 25 ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 68812361 68904457 + 68815472 68907469 + 68961913 69053965 + 737633;1580863;6480464 12477932 15489334;15254788;7584044;19911011 9938 B7Z8K7;C9JB56;F8WAV9;F8WDF6;H7C4P1;P42331 ABBA01075491;AC097495;AC105054;AC112700;AK290396;AK297056;AK297157;AK298669;AK303591;AK310742;AK311669;AMYH01010419;BC032222;BC039591;BX443252;CD695161;CH471053;D29642;NM_001007231;NM_001166276;NM_001166277;NM_014882 AAH39591;AAY15074;AAY24006;BAA06125;BAF83085;BAH12484;BAH12510;BAH12841;BAH13993;EAW99866;EAW99867;EAW99868;NP_001007232;NP_001159748;NP_001159749;NP_055697;P42331 Hs.531807 1684485;1686058;1787610;2131539;2155926;2218246 ARHGAP25_4361;D2S2611;RH17432;RH25288;RH91480;SHGC-155934 KAIA0053 OTTHUMP00000202079;OTTHUMP00000202080;OTTHUMP00000202081;OTTHUMP00000214416;OTTHUMP00000214419;OTTHUMP00000214420;OTTHUMP00000214421;rho GTPase-activating protein 25;rho-type GTPase-activating protein 25 APPROVED protein-coding ENSG00000163219 28951 09805 610587 VALIDATED 1347841 ARHGAP28 Rho GTPase activating protein 28 18 18 18 p11.31 6719871 6801101 + 6824484 6905715 + 6834432 6915715 + 737633;6480464 12477932 16177791;15489334;14702039;10718198;18029348;23251661 79822 B4DXL2;E9PL26;E9PMX7;F6VKJ9;H9KVB7;J3KT69;J3KTC0;J3QKM0;J3QLR3;J3QRC2;Q9P2N2 AB037735;ABBA01049899;ABBA01049900;AI435330;AK001174;AK024298;AK130670;AK289791;AK302026;AK308259;AMYH01008789;AP005210;BC033668;BC065274;BG720645;BX648684;CH471113;DC401238;NM_001010000 AAH33668;AAH65274;BAA91533;BAA92552;BAF82480;BAG63424;EAX01633;EAX01634;EAX01635;NP_001010000;Q9P2N2 Hs.183114 1680216;1686923;1689011;1699534;1751907;2114130;5022578;5109281;5120437 AB072742;D1S1423;D1S1425;GDB:315881;RH103364;RH92850;RH93818;RH93927;SHGC-105816 DKFZp686A2038;FLJ10312;FLJ27160 OTTHUMP00000236529;OTTHUMP00000236530;OTTHUMP00000236531;OTTHUMP00000236532;rho GTPase-activating protein 28;rho-type GTPase-activating protein 28 protein-coding ENSG00000088756 25509 10961 610592 VALIDATED 6481080 ARHGAP31-AS1 ARHGAP31 antisense RNA 1 100874246 AC092981 APPROVED miscrna 41235 1346833 ARHGAP27 Rho GTPase activating protein 27 Rho (see ARHA; MIM 165390)-like small GTPases are involved in many cellular processes, and they are inactive in the GDP-bound state and active in the GTP-bound state. GTPase-activating proteins, such as ARHGAP27, inhibit Rho-like proteins by stimulating their intrinsic GTPase activity (Katoh and Katoh, 2004 [PubMed 15492870]).[supplied by OMIM, Mar 2008] 17 17 17 q21.31 40180571 40212381 - 40827058 40858780 - 43471268 43510282 - 1302833;6480464 15147912 15492870;14702039;12477932;12107413;11181995;12297274;20070850;21890473 201176 E9PIR1;E9PK18;E9PNT2;E9PNX6;Q6ZUM4;Q8N2Y9 ABBA01028314;ABBA01028315;ABBA01028316;AC003070;AC091132;AC217778;AF258593;AK092891;AK125535;AK290650;AK300880;AMYH01008442;BC029634;BC067345;BC101388;BC101389;BC101390;BC101391;BX386761;CD675139;CH471178;NM_174919;NM_199282 AAG23796;AAH29634;AAH67345;AAI01389;AAI01390;AAI01391;AAI01392;BAC86196;BAF83339;BAH13366;EAW51527;EAW51528;NP_777579;NP_954976;Q6ZUM4 Hs.205326 1337603;1660562;1775837;2182292;5020948;5037552;5109281;7185410 D17S1406E;D17S810;D1S1425;D8S2279;G35510;RH78841;SGC30868 CAMGAP1;FLJ35572;FLJ43547;FLJ76025;MGC120624;MGC78393;PP905;SH3D20;SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1;OTTHUMP00000234646;OTTHUMP00000234647;OTTHUMP00000234648;OTTHUMP00000234651;OTTHUMP00000234652;SH3 domain containing 20;SH3 domain-containing protein 20;rho GTPase-activating protein 27;rho-type GTPase-activating protein 27 APPROVED protein-coding ENSG00000159314 31813 12477 610591 VALIDATED 1315415 ARHGAP24 Rho GTPase activating protein 24 ARHGAPs, such as ARHGAP24, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008] 4 4 4 q22.1 83686557 84212966 + 86615308 87142847 + 86396284 86923823 + 1580863;6480464 16862148;19293932;19144823;16344560;15611138;15489334;15302923;15254788;14702039;12601173;12477932;11256614;11230166;9847074;18029348;20062060;20062063;20379614;20670164;21832049;21911940;21926999;23097497;23139255;23251661 83478 D6RBC2;D6RCP5;D6RHH1;Q8N264 ABBA01063489;ABBA01063490;ABBA01063491;ABBA01063492;ABBA01063493;ABBA01063494;ABBA01063495;AC097108;AC098870;AC104059;AC104810;AC115620;AC139716;AK091196;AK098193;AK130576;AK307423;AK308019;AL136646;AMYH01014367;AMYH01014368;AMYH01014369;AMYH01014370;AY211925;BC047918;BC098580;CH471057;DA546029;DA815489;DB109452;NM_001025616;NM_001042669;NM_031305 AAH47918;AAH98580;AAO65178;BAC03606;BAC85384;BAG53589;CAB66581;EAX05959;EAX05960;EAX05961;NP_001020787;NP_001036134;NP_112595;Q8N264 Hs.444229 1336699;1657656;1666474;1666707;1671858;1672628;1690420;1696076;1711270;1713891;1759973;2122886;2128655;2132567;2154948;2159772 D4S2340;D4S2356;D4S2409;D4S785;G09481;RH103371;RH119376;SHGC-112308;SHGC-37426;SHGC-50463;SHGC-50498;SHGC-50682;SHGC-58303;SHGC-79102;SHGC-89267;STS-N20263 DKFZp564B1162;FILGAP;FLJ33877;RC-GAP72;RCGAP72;p73;p73RhoGAP OTTHUMP00000160982;OTTHUMP00000160983;OTTHUMP00000218766;OTTHUMP00000218767;RAC1- and CDC42-specific GTPase-activating protein of 72 kDa;filamin-A-associated RhoGAP;rho GTPase-activating protein 24;rho-type GTPase-activating protein 24;rhoGAP of 73 kDa;sarcoma antigen NY-SAR-88 APPROVED protein-coding ENSG00000138639 25361 09804 610586 VALIDATED 1606326 ARHGAP29 Rho GTPase activating protein 29 1 1 1 p22.1 92888168 92957024 - 94407051 94475895 - 94634463 94703307 - 6480464 9305890;17488656;16189514;15752761;12477932;8889548;7566098;14749388;21502573;19911011;19343720;21139048;21906983;23000965;23400010;23008150 9411 F8VWZ8;Q52LW3 AA326126;AB208873;ABBA01045512;ABBA01045513;ABBA01045514;AK307733;AK310491;AL162735;AL833445;AMYH01000806;AW295796;BC022483;BC037337;BC067839;BC093741;BC093767;BF115799;BI548487;BU507990;BX508890;CA454270;CB852768;CH471097;NM_004815;U90920 AAB81012;AAH22483;AAH67839;AAH93741;AAH93767;BAD92110;EAW73051;EAW73052;NP_004806;Q52LW3 Hs.483238 1652685;1665014;1734522;1776558;1857145;2108339;2137302;2149897;2151163;2162713;2162715;2182717;5022578;5093466 A002A12;A009P20;D1S1423;D1S1765E;G19844;G32735;PARG1_7946;RH47971;RH64646;RH64657;RH64671;SHGC-32946;SHGC-75174;SHGC-75176 PARG1;RP11-255E17.1 OTTHUMP00000012383;OTTHUMP00000243160;PTPL1-associated RhoGAP 1 (PARG1);PTPL1-associated RhoGAP protein 1;rho GTPase-activating protein 29;rho-type GTPase-activating protein 29 protein-coding 30207 06674 610496 VALIDATED 1604190 ARHGAP30 Rho GTPase activating protein 30 1 1 1 q23.3 134083996 134106943 - 159283356 159306384 - 161016732 161039760 - 6480464 16710414;15489334;15144186;12477932;21565175;23128233 257106 E9PAN4;E9PLA4;E9PLT5;Q7Z6I6 ABBA01016600;ABBA01016601;ABBA01016602;AK126116;AK126163;AK160366;AL591806;AL832852;AL833477;AMYH01001456;AMYH01001457;BC025732;BC043387;BC053688;BX537846;CH471121;NM_001025598;NM_181720 AAH43387;AAH53688;BAC86447;BAD18709;CAD97855;EAW52667;EAW52668;EAW52669;EAW52670;EAW52671;EAW52672;EAW52673;EAW52674;NP_001020769;NP_859071;Q7Z6I6 Hs.389374 1730167;2129450;2177510;7185482 D1S273E;RH36021;STS-W72330 FLJ00267;FLJ44128;RP11-544M22.6 OTTHUMP00000029703;OTTHUMP00000029705;OTTHUMP00000228976;rho GTPase-activating protein 30;rho-type GTPase-activating protein 30 protein-coding ENSG00000186517 27414 11250 614264 VALIDATED 1322105 ARHGAP26 Rho GTPase activating protein 26 Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 q31 142130476 142588765 + 142150292 142608572 + 1599311;1580863;6480464;7240710 10908648 11432776;11998687;9582072;18929667;14702039;12477932;10737800;9858476;9734811;9525907;8649427;7836419;21622574;20533268;20374274;20602808;20704716;18759275;20379614;21965292;15717329;21074269;21890473;21906983 23092 C9J6V4;F8W8N5;H0Y4P9;H0Y835;H7BZE1;H7BZZ0;H7C1J1;H7C205;H7C3P8;Q9UNA1 AB014521;ABBA01026364;ABBA01026365;ABBA01026366;ABBA01026367;AC004782;AC005348;AC005574;AC008533;AC012630;AF196313;AF508552;AK092488;AK095220;AK123519;AK124521;AK298708;AMYH01015668;AMYH01015669;BC021059;BC068555;BF085236;CH471062;HM037040;NG_016711;NM_001135608;NM_015071;Y10388 AAG30729;AAH68555;AAM61871;ADI49692;BAA31596;BAG53008;BAG60864;CAA71414;EAW61876;EAW61877;NP_001129080;NP_055886;Q9UNA1 Hs.654668 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REN24740;REN24741;REN24742;REN24743;REN24744;REN24745;REN24746;REN24747;REN24748;REN24749;REN24750;REN24751;REN24752;REN24753;REN24754;REN24755;REN24756;REN24757;REN24758;REN24759;REN24760;REN24761;REN24762;REN24763;REN24764;REN24765;REN24766;REN24767;REN24768;REN24769;REN24770;REN24771;REN24772;REN24773;REN24774;REN24775;REN24776;REN24777;REN24778;REN24779;REN24780;REN24781;REN24782;REN24783;REN24784;REN24785;REN24786;REN24787;REN24788;REN24789;REN24790;REN24791;REN24792;REN24793;REN24794;REN24795;REN24796;REN24797;REN24798;REN24799;REN24800;REN24801;REN24802;REN24803;REN24804;REN24805;REN24806;REN24807;REN24808;REN24809;REN24810;REN24811;REN24812;REN24813;REN24814;REN24815;REN24816;REN24817;REN24818;REN24819;REN24820;REN24821;REN24822;REN24823;REN24824;REN24825;REN24826;REN24827;REN24828;REN24829;REN24830;REN24831;REN24832;REN24833;REN24834;REN24835;REN24836;REN24837;REN24838;REN24839;REN24840;REN24841;REN24842;REN24843;REN24844;REN24845;REN24846;REN24847;REN24848;REN24849;REN24850;REN24851;REN24852;REN24853;REN24854;REN24855;REN24856;REN24857;REN24858;REN24859;REN24860;REN24861;REN24862;REN24863;REN24864;REN24865;REN24866;REN24867;REN24868;REN24869;REN24870;REN24871;REN24872;REN24873;REN24874;REN24875;REN24876;REN24877;REN24878;REN24879;REN24880;REN24881;REN24882;REN24883;REN24884;REN24885;REN24886;REN24887;REN24888;REN24889;REN24890;REN24891;REN24892;REN24893;REN24894;REN24895;REN24896;REN24897;REN24898;REN24899;REN24900;REN24901;REN24902;REN24903;REN24904;REN24905;REN24906;REN24907;REN24908;REN24909;REN24910;REN24911;REN24912;REN24913;REN24914;REN24915;REN24916;REN24917;REN24918;REN24919;REN24920;REN24921;REN24922;REN24923;REN24924;REN24925;REN24926;REN24927;REN24928;REN24929;REN24930;REN24931;REN24932;REN24933;REN24934;REN24935;REN24936;REN24937;REN24938;REN24939;REN24940;REN24941;REN24942;REN24943;REN24944;REN24945;REN24946;REN24947;REN24948;REN24949;REN24950;RH102698;RH119688;RH123521;RH15959;RH36178;RH68661;RH69744;RH76776;SHGC-104765;SHGC-145147;SHGC-32370;SHGC-35009;SHGC-52704;STS-F09886;WI-13339;WI-13649;stSG622983;stSG622985;stSG622987;stSG622989;stSG622990;stSG622991;stSG622992;stSG622993;stSG622994;stSG622995;stSG622996;stSG622997;stSG622998;stSG622999;stSG623000;stSG623001;stSG623002;stSG623003;stSG623004;stSG623005;stSG623006;stSG623007;stSG623008;stSG623009;stSG623010;stSG623011;stSG623012;stSG623013;stSG623014;stSG623015;stSG623016;stSG623017;stSG623018;stSG623019;stSG623020;stSG623021;stSG623022;stSG623023;stSG623024;stSG623025;stSG623026;stSG623027;stSG623028;stSG623029;stSG623030;stSG623031;stSG623032;stSG623033;stSG623034;stSG623035;stSG623036;stSG623037;stSG623038;stSG623039;stSG623040;stSG623041;stSG623042;stSG623043;stSG623044;stSG623045;stSG623046;stSG623047;stSG623048;stSG623049;stSG623050;stSG623051;stSG623052;stSG623053;stSG623054;stSG623055;stSG623056;stSG623057;stSG623058;stSG623059;stSG623060;stSG623061;stSG623062;stSG623063;stSG623064;stSG623065;stSG623066;stSG623067;stSG623068;stSG623069;stSG623070;stSG623071;stSG623072;stSG623073;stSG623074;stSG623075;stSG623076;stSG623077;stSG623078;stSG623079;stSG623080;stSG623081;stSG623082;stSG623084;stSG623085;stSG623086;stSG623087;stSG623088;stSG623089;stSG623090;stSG623091;stSG623092;stSG623093;stSG623094;stSG623095;stSG623096;stSG623097;stSG623098;stSG623099;stSG623100;stSG623101;stSG623102;stSG623103;stSG623104;stSG623105;stSG623106;stSG623107;stSG623108;stSG623109;stSG623110;stSG623111;stSG623112;stSG623113;stSG623114;stSG623115;stSG623116;stSG623117;stSG623118;stSG623119;stSG623120;stSG623121;stSG623122;stSG623123;stSG623124;stSG623125;stSG623126;stSG623127;stSG623128;stSG623129;stSG623130;stSG623131;stSG623132;stSG623133;stSG623134;stSG623135;stSG623136;stSG623137;stSG623138;stSG623139;stSG623142;stSG623144;stSG623145;stSG623146;stSG623147;stSG623148;stSG623149;stSG623150;stSG623151;stSG623152;stSG623153;stSG623154;stSG623155;stSG623156;stSG623157;stSG623158;stSG623159;stSG623160;stSG623161;stSG623162;stSG623163;stSG623165;stSG623166;stSG623167;stSG623169;stSG623170;stSG623171;stSG623172;stSG623173;stSG623174;stSG623175;stSG623176;stSG623177;stSG623179;stSG623180;stSG623181;stSG623182;stSG623183 FLJ42530;GRAF;GRAF1;KIAA0621;OPHN1L;OPHN1L1 GTPase regulator associated with focal adhesion kinase pp125(FAK);OTTHUMP00000066032;OTTHUMP00000070148;oligophrenin-1-like protein;rho GTPase-activating protein 26;rho-type GTPase-activating protein 26 APPROVED protein-coding ENSG00000145819 17073 05643 605370;607785 REVIEWED 1605412 ARHGAP32 Rho GTPase activating protein 32 RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008] 11 11 11 q24.3 126003454 126230572 - 128343052 128399222 - 128834955 129062093 - 6480464 18477472;18577589;18451111;17663722;16713569;14702039;12857875;12819203;12788081;12531901;12477932;12477392;12454018;12446789;12421765;9872452;15778465;20936779;10737800;20308060;23226367;17620599;23319000;22530067 9743 A7KAX9;E9PRH3;G3V174;I7H0B0;Q86T64 AB018255;AB079856;AB088416;ABBA01023015;ABBA01023016;ABBA01023017;AK001257;AK023715;AK025237;AL833062;AMYH01004122;AP000747;AP000751;AP002886;AY194287;BC000277;BC023644;BC051236;BC054488;BC065371;BC104898;BC113429;BQ319051;CH471065;CK823137;EF127492;NM_001142685;NM_014715 A7KAX9;AAH00277;AAH51236;AAH65371;AAI04899;AAI13430;AAO43677;ABO33171;BAA34432;BAC24802;BAM34446;CAD89974;EAW67732;EAW67733;EAW67734;EAW67735;EAW67736;EAW67737;EAW67738;EAW67739;EAW67740;EAW67741;EAW67742;NP_001136157;NP_055530 Hs.440379 1654475;1668170;1677490;1698878;1707790;1737255;2127872;2157956;5110027 D11S2097;D11S2896;D11S3120;D11S4354;G27495;RH103006;SHGC-82118;STS-M79191;WI-11842 GC-GAP;GRIT;KIAA0712;MGC1892;PX-RICS;RICS;p200RhoGAP;p250GAP GAB-associated CDC42;GAB-associated Cdc42/Rac GTPase-activating protein;GTPase regulator interacting with TrkA;GTPase-activating protein for Cdc42 and Rac1;OTTHUMP00000230948;OTTHUMP00000230996;OTTHUMP00000230997;OTTHUMP00000230998;RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling;brain-specific Rho GTP-ase-activating protein;brain-specific Rho GTPase-activating protein;rac GTPase activating protein;rho GTPase-activating protein 32;rho-type GTPase-activating protein 32;rho/Cdc42/Rac GTPase-activating protein RICS;rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling APPROVED protein-coding ENSG00000134909 17399 12257 608541 VALIDATED 1606256 ARHGAP31 Rho GTPase activating protein 31 This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117421692 117546790 + 120495910 120619254 + 119013220 119138323 + 6480464;7240710 9786927;17158447;16519628;15761153;12477932;11744688;10574462;8889548;12819203;19706030;20190752;20936779;21565291;22907917;21774070;23894747;18539136;22518840 57514 C9J652;Q2M1Z3 AB033030;ABBA01061585;ABBA01061586;AC092981;AK026689;AK293726;AMYH01013418;BC112163;BC112165;BM970175;CH471052;NG_007665;NM_020754 AAI12164;AAI12166;ADR83297;BAA86518;BAH11580;EAW79573;EAW79574;NP_065805;Q2M1Z3 Hs.668218 1685231;1708644;1757461;1760183;2138434;2163536;2218352 CDGAP_4536;RH99056;SHGC-132468;SHGC-144836;SHGC-32480;SHGC-7110;SHGC-85123 AOS1;CDGAP;KIAA1204;MGC138368;MGC138370 Cdc42 GTPase-activating protein;OTTHUMP00000215062;rho GTPase-activating protein 31 APPROVED protein-coding ENSG00000031081 29216 16697 100300;610911 REVIEWED 1343259 ARHGAP40 Rho GTPase activating protein 40 20 20 20 q11.23 33941365 33990115 + 36685438 36762920 + 37230577 37279295 + 6480464 343578 H0Y397;H0Y7S1;H7BXE0;Q5TG30 ABBA01052526;ABBA01052527;AL035419;AL133519;AMYH01011906;NM_001164431 NP_001157903;Q5TG30 Hs.451997 1335158;1743261;1760075;2118167;2171107 D20S1152;D20S478;GDB:313405;SHGC-107732;Z94371 C20orf95;dJ1100H13.4 OTTHUMP00000030971;rho GTPase-activating protein 18-like;rho GTPase-activating protein 40;rho-type GTPase-activating protein 40 APPROVED protein-coding ENSG00000124143 16226 INFERRED 6483750 ARHGAP42P1 Rho GTPase activating protein 42 pseudogene 1 2 132085749 132088667 - 100887075 ABBA01028239;AC073869;AMYH01011096;NG_032717 pseudo 43940 INFERRED 6768999 ARHGAP42P2 Rho GTPase activating protein 42 pseudogene 2 2 q21.1 130763773 130766771 + 100130693 ABBA01040140;AC079776;AMYH01011041 pseudo 43939 MODEL 1318751 ARHGAP33 Rho GTPase activating protein 33 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 19 19 19 q13.12 32979892 32993199 + 40958316 40971564 + 36266417 36279724 + 1580863 16777849;18660489;15489334;15057824;14702039;12773384;12477932;12461558;12297274;11736640;11485546;11441184;17664338;20936779 115703 A1A5D2;K7EK14;K7EMC2;K7EQI6;K7ER09;O14559 ABBA01018765;AC002398;AK096338;AK127255;AL137579;AMYH01009733;AY044864;BC014084;BC128586;HI574102;NM_001172630;NM_052948 AAB81197;AAB81198;AAH14084;AAI28587;AAK97795;BAC86902;BAG53264;CAB70821;CBX47540;NP_001166101;NP_443180;O14559 Hs.515364 1675583;1686508;1701628;2107645;2166105;2191661 MARC_4163-4164:996679454:1;RH104456;RH46149;RH75149;RH91709;SNX26__6878 FLJ39019;NOMA-GAP;SNX26;TCGAP neurite outgrowth multiadaptor RhoGAP protein;rho GTPase-activating protein 33;rho-type GTPase-activating protein 33;sorting nexin 26;sorting nexin-26;tc10/CDC42 GTPase-activating protein APPROVED protein-coding ENSG00000004777 23085 15415 614902 REVIEWED 1350998 ARHGAP42P3 Rho GTPase activating protein 42 pseudogene 3 22 22 q11.1 14804024 14824277 + 16424125 16444178 + 266698 AMYH01012390;AMYH01012391;AP000534;NG_002375 OPHN1P1 APPROVED pseudo 19327 INFERRED 3500508 ARHGAP42 Rho GTPase activating protein 42 11 11 11 q22.1 97727721 98030995 + 100063620 100354994 + 100558407 100861656 + 6480464 14702039;16344560;18954304;20379614;21909110;21909115 143872 A6NI28;E9PJK4;H0YDU1;H0YEJ7 ABBA01039961;ABBA01039962;ABBA01039963;ABBA01039964;ABBA01039965;ABBA01039966;AC015600;AI672473;AI677857;AK023666;AK057372;AMYH01003987;AP000872;AP001351;BM014001;BU146672;DA800121;EG328683;NM_152432 A6NI28;BAB71456;NP_689645 Hs.741465 1336430;1340321;1648628;1658774;1668259;1690324;1698756;1738201;1857780;2111772;2133005;2153534;2173427;2182762;5020340;5113116;7190615;7190619 D0S2244;D11S1971;D11S2035;D11S2067;D11S3831;D11S4100;D11S4472;D11S900;RH102941;RH66017;RH69562;RH79067;RH92123;SGC31108;WI-11049;WI-17552 FLJ32810;GRAF3;KIAA0621 OTTHUMP00000236201;rho GTPase-activating protein 10-like;rho GTPase-activating protein 42;rho-type GTPase-activating protein 42 protein-coding ENSG00000165895 26545 PROVISIONAL 1606778 ARHGAP39 Rho GTPase activating protein 39 8 8 8 q24.3 141930235 142014662 - 145725371 145809699 - 145754563 145838891 - 6480464 15302935;14702039;12477932;11214970;15755809 80728 B3KS00;Q9C0H5 AB051475;ABBA01005198;ABBA01005199;ABBA01005200;AC084125;AK092501;AK296353;AK303851;AMYH01019158;AMYH01019159;BC013071;CH471162;NM_025251 AAH13071;BAB21779;BAG52562;BAG59035;BAG64793;EAW82062;NP_079527;Q9C0H5 Hs.148988 CrGAP;KIAA1688;Vilse OTTHUMP00000228801;OTTHUMP00000228802;RhoGAP93B homolog;crossGAP homolog;rho GTPase-activating protein 39 APPROVED protein-coding ENSG00000147799 29351 17224 VALIDATED 6770425 ARHGAP42P4 Rho GTPase activating protein 42 pseudogene 4 14 q11.2 20156459 20159355 + 254398 AL512310;AMYH01005576;NG_028869 pseudo 43941 INFERRED 6769156 ARHGAP42P5 Rho GTPase activating protein 42 pseudogene 5 14 q11.2 19399163 19403263 - 100128514 ABBA01173075;AMYH01005466;CR383656;NG_028186 pseudo 43942 INFERRED 1603059 ARHGAP35 Rho GTPase activating protein 35 The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008] 19 19 q13.3 52113773 52200174 + 47421933 47508334 + 6480464;6484113 1894621;19393245;19293150;19086053;18922893;18829532;18642445;18567581;18282590;17562701;17081983;16341674;16308318;16210701;16188938;15592455;15302935;14702039;12477932;12168954;11214970;11054565;8702520;12441060;9548756;9034330;22807448;20530197;20534586;20634891;20675588;11309200;16513268;19435801;9819392;15102857;16751776;16147992;21127047;21139048;21906983;22357615;20617170;23178654 2909 A2RRE5;Q9NRY4 AB051509;ABBA01040995;ABBA01040996;ABBA01040997;ABBA01040998;AC008755;AC008895;AF159851;AK096123;AK097314;AK298356;AL831914;AMYH01009873;BC003514;BC065491;BC131565;BC150257;BE871213;BM855708;CA429690;CH471126;CX163309;M73077;NM_004491 AAA58618;AAF80386;AAI31566;AAI50258;BAB21813;BAG60600;EAW57450;EAW57451;EAW57452;EAW57453;NP_004482;Q9NRY4 Hs.509447 1337079;1337680;1662366;1685041;1771682;2119507;2125050;2152575;2167876;5107703;5111275;7187464 D18S1154;D19S540;D19S851;RH12331;RH15918;RH67855;RH68444;RH77962;RH79947;STS-N25336;WI-9140 GRF-1;GRLF1;KIAA1722;MGC10745;P190-A;P190A;p190ARhoGAP;p190RhoGAP glucocorticoid receptor DNA binding factor 1;glucocorticoid receptor DNA-binding factor 1;glucocorticoid receptor repression factor 1;rho GAP p190A;rho GTPase-activating protein 35 APPROVED protein-coding ENSG00000160007 4591 05592 605277 REVIEWED 1603262 ARHGAP36 Rho GTPase activating protein 36 X X X q26.1 130578656 130610299 + 130019897 130051534 + 130192216 130223857 + 6480464 18029348;15772651;15489334;14702039;12477932 158763 Q6ZRI8 ABBA01047990;ABBA01047991;ABBA01047992;AK054620;AK128203;AK294274;AK296748;AL590131;AMYH01022981;BC063790;CD107623;CH471107;NM_144967 AAH63790;BAB70776;BAC87322;BAH11720;BAH12425;EAX11793;EAX11794;EAX11795;NP_659404;Q6ZRI8 Hs.22905 1658646;1721711;1755443;1852550 DXS7024E;G59719;SHGC-142312;WI-13730 FLJ30058;RP13-102H20.1 OTTHUMP00000024023;OTTHUMP00000024024;OTTHUMP00000024026;OTTHUMP00000215137;rho GTPase-activating protein 36 APPROVED protein-coding ENSG00000147256 26388 06547 VALIDATED 1343373 ARHGAP4 Rho GTPase activating protein 4 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q28 153406543 153425434 - 152826025 152844892 - 153172830 153191714 - 1580863;6480464 8570618;18029348;18489790;16381901;15489336;12736724;12477932;12447388;12414125;11754100;11256614;11076863;10655059;8590280;7981673;16417406;11756498;12376548;12787561;20237496;19913121;20628086;21890473;21906983;22009749;14581471;22965914 393 C9J5M2;C9JLA8;E7EQN5;E9PCM6;F5GZW3;F8WAR0;H7C120;H7C2Z8;H7C3G3;H7C3K8;P98171 ABBA01045337;ABBA01045338;ABBA01045339;ABBA01045340;ABBA01045341;ABBA01045342;AI249937;AK294562;AMYH01023303;AY183123;BC023626;BC052303;CH471172;D50921;NG_013220;NM_001164741;NM_001666;U52112;X78817;Z68128 AAH23626;AAH52303;AAO66337;BAA09480;BAH11812;CAA55394;CAA92213;CAL37504;CAL38100;EAW72777;EAW72778;EAW72779;EAW72780;EAW72781;EAW72782;NP_001158213;NP_001657;P98171 Hs.701324 1801570;1802020;1803354;1803392;1804762;1804944;1805050;1805102;1809150;1810114;1810538;1810540;1810982;1811374;1812290;1814134;1817982;1827218;1828232;1837142;1840322;1843974;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034204;2034206;2034208;2034210;2034212;2034214;2034216;2034218;2034220;2034222;2034224;2034226;2034228;2034230;2034232;2034234;2034236;2034238;2034240;2034242;2034244;2034246;2034248;2034250;2034252;2034254;2034256;2034258;2034260;2034262;2034264;2034266;2034268;2034270;2034272;2034274;2034276;2034278;2034280;2034282;2034284;2034286;2034288;2034290;2034292;2034294;2034296;2034298;2034300;2034302;2034304;2034306;2034308;2034310;2034312;2034314;2034316;2034318;2034320;2034322;2034324;2034326;2034328;2034330;2034332;2034334;2034336;2034338;2034340;2034342;2034344;2034346;2034348;2034350;2034352;2034354;2034356;2034358;2034360;2034362;2034364;2034366;2034368;2034370;2034372;2034374;2034376;2034378;2034380;2102102;2102104;2102106;2102108;2102110;2102112;2102114;2102116;2102118;2102120;2102122;2102124;2102126;2116353;2173341;2218248 ARHGAP4_4362;DXS8147;ECD01663;ECD01891;ECD02574;ECD02593;ECD03313;ECD03408;ECD03466;ECD03493;ECD05564;ECD06049;ECD06262;ECD06263;ECD06489;ECD06685;ECD07152;ECD08096;ECD10046;ECD14724;ECD15241;ECD19737;ECD21346;ECD23199;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88111;REN88112;REN88113;REN88114;REN88115;REN88116;REN88117;REN88118;REN88119;REN88120;REN88121;REN88122;REN88123;REN88124;REN88125;REN88126;REN88127;REN88128;REN88129;REN88130;REN88131;REN88132;REN88133;REN88134;REN88135;REN88136;REN88137;REN88138;REN88139;REN88140;REN88141;REN88142;REN88143;REN88144;REN88145;REN88146;REN88147;REN88148;REN88149;REN88150;REN88151;REN88152;REN88153;REN88154;REN88155;REN88156;REN88157;REN88158;REN88159;REN88160;REN88161;REN88162;REN88163;REN88164;REN88165;REN88166;REN88167;REN88168;REN88169;REN88170;REN88171;REN88172;REN88173;REN88174;REN88175;REN88176;REN88177;REN88178;REN88179;REN88180;REN88181;REN88182;REN88183;REN88184;REN88185;REN88186;REN88187;REN88188;REN88189;REN88190;REN88191;REN88192;REN88193;REN88194;REN88195;REN88196;REN88197;REN88198;REN88199;RH25354;stSG603684;stSG603685;stSG603686;stSG603688;stSG603689;stSG603690;stSG603691;stSG603692;stSG603693;stSG603694;stSG603695;stSG603696;stSG603698 C1;KIAA0131;RGC1;RhoGAP4;SrGAP4;p115 OTTHUMP00000026003;OTTHUMP00000026004;OTTHUMP00000063090;OTTHUMP00000196209;OTTHUMP00000198723;Rho-GAP hematopoietic protein C1;rho GTPase-activating protein 4;rho-type GTPase-activating protein 4 APPROVED protein-coding ENSG00000089820 674 02063 300023 REVIEWED 1349829 ARHGAP6 Rho GTPase activating protein 6 This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X p22.3 15283114 15812107 - 11065584 11593742 - 11155663 11683821 - 1580863;6480464 8570618;10699171;18434237;12673365;12477932;9417914;22889411;19913121;20628086;19960375 395 B4DN07;B7Z8H7;H7BYE6;O43182;Q59HG6 AB208792;ABBA01070885;ABBA01070886;ABBA01070887;ABBA01070888;ABBA01070889;ABBA01070890;ABBA01070891;ABBA01070892;ABBA01070893;ABBA01070894;ABBA01070895;ABBA01070896;ABBA01070897;ABBA01070898;ABBA01070899;ABBA01070900;ABBA01070901;ABBA01070902;ABBA01070903;ABBA01070904;ABBA01070905;ABBA01070906;ABBA01070907;ABBA01070908;ABBA01070909;ABBA01070910;ABBA01070911;ABBA01070912;ABBA01070913;ABBA01070914;ABBA01070915;ABBA01070916;ABBA01070917;ABBA01070918;ABBA01070919;ABBA01070920;ABBA01070921;ABBA01070922;ABBA01070923;ABBA01070924;ABBA01070925;ABBA01070926;ABBA01070927;ABBA01070928;ABBA01070929;AC002366;AC003657;AC004467;AC004554;AC130886;AC130890;AF012272;AF022212;AF117067;AF177663;AF177665;AK293078;AK297713;AK297747;AK303444;AMYH01022077;AMYH01022078;AMYH01022079;AMYH01022080;AMYH01022081;BC035785;BC150635;CH471074;NG_012494;NM_006125;NM_013423;NM_013427 AAC98539;AAC98540;AAD53166;AAD55087;AAF43261;AAI50636;BAD92029;BAF85767;BAG60069;BAG60097;BAH13963;EAW98786;EAW98787;EAW98788;EAW98789;EAW98790;EAW98791;NP_006116;NP_038267;NP_038286;O43182 Hs.435291 1334942;1340401;1657639;1679774;1681165;1693974;1693976;1693978;1693980;1693982;1693984;1693998;1694028;1694052;1701994;1702156;1702256;1702852;1702862;1702906;1706890;1710836;1720241;1726893;1728909;1739475;1740289;1743711;1744867;1744869;1744873;1744877;1744879;1753779;1769050;1787204;1797068;1857984;2112222;2112224;2139997;2144628;2177113;2185482;2218250;7186425 AF003642;AF003643;AF003645;AF003646;AF003647;AF003648;AF003655;AF003672;AF003685;AFMa052zc1;AMELX;ARHGAP6_4363;D11S1905;DXF22S5;DXS1043;DXS1129;DXS1135;DXS1380;DXS1445;DXS7090;DXS7519;DXS7543;DXS7800;DXS7928;DXS8202;DXS9824;DXS9825;G42692;G62689;GDB:371402;GDB:574117;GDB:574121;GDB:574132;GDB:574144;GDB:574146;GDB:677393;RH123869;RH46956;RH79902;RH98500;SHGC-105133;SHGC-108012;SHGC-34710;SHGC-80932;SHGC-84186 RHOGAP6;RHOGAPX-1 OTTHUMP00000022913;OTTHUMP00000022915;OTTHUMP00000022916;OTTHUMP00000022917;OTTHUMP00000022918;OTTHUMP00000236431;Rho-type GTPase-activating protein RhoGAPX-1;rho GTPase-activating protein 6;rho-type GTPase-activating protein 6 APPROVED protein-coding ENSG00000047648 676 02124 300118 REVIEWED 1606315 ARHGAP8 Rho GTPase activating protein 8 This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] 22 22 q13.31 43527102 43637328 + 45148438 45258664 + 6480464 15944398;15506981;15225876;15064355;14702039;12944407;12559566;12477932;12297274;10591208;19913121;20628086;20179103;15955831;16555160;18217980;21906983;22554406;22863734;21890473 23779 A6ZJ79;B1AHC2;B1AHC4;B1AHF8;F8W6F4;F8WCV8;Q6PJW1;Q9NSG0 ABBA01017851;ABBA01017852;ABBA01017853;ABBA01017854;ABBA01017855;AF544240;AI284954;AK001306;AK022305;AMYH01012842;AW673723;BC010490;BC048280;BC059382;BC067824;BC093675;BC111953;NM_001017526;NM_001198726;NM_181335;Z93244 AAH10490;AAH48280;AAH59382;AAH93675;AAI11954;AAN40769;BAA91614;BAB14008;NP_001017526;NP_001185655;NP_851852;P85298 Hs.102336 1339982;1709650;1711490;1711492;1747489;1754307;1777909;2115169;2136929;2145942;5022578;5037552 AL008674;AL021650;AL021655;AL021670;D1S1423;D22S1168;D8S2279;G49246;G49247;G65368;SHGC-132331;SHGC-85190 BPGAP1;FLJ20185;PP610 BCH domain-containing Cdc42GAP-like protein;BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1;OTTHUMP00000028598;OTTHUMP00000082599;OTTHUMP00000082600;OTTHUMP00000219408;rho GTPase-activating protein 8;rho-type GTPase-activating protein 8 APPROVED protein-coding ENSG00000241484 677 06448 609405 REVIEWED 1318315 ARHGAP5 Rho GTPase activating protein 5 Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q12 31616246 31698685 + 32546495 32628934 + 1580863;6480464 8537347;1689011;18996642;16777052;16469769;15588985;15231748;14702039;14610059;12842009;12554790;12477932;10939588;10713673;8889548;7935432;10092539;10769036;8344248;19822667;23184937;22939629;21139048 394 G3V360;G3V444;G3V5I7;H0YK04;Q59ER0 AB209751;ABBA01061428;ABBA01061429;AK023468;AK292966;AK307454;AL045112;AL161665;AMYH01005644;AMYH01005645;AY316523;BC032723;BC050059;BC075799;BC129928;BC129929;CA945100;CH471078;NM_001030055;NM_001173;U17032 AAA95963;AAH32723;AAH50059;AAH75799;AAI29929;AAI29930;AAP83192;BAD92988;BAF85655;EAW65935;EAW65936;EAW65937;EAW65938;NP_001025226;NP_001164;Q13017 Hs.592313 1666966;1671314;1701400;1771362;2115920;2122254;2127940 G35570;G36303;RH104330;RH18005;RH45106;RH68433;SHGC-36390 GFI2;RhoGAP5;p190-B;p190BRhoGAP OTTHUMP00000244094;OTTHUMP00000244095;OTTHUMP00000244097;OTTHUMP00000244099;growth factor independent 2;p100 RasGAP-associated p105 protein;p105 RhoGAP;rho GTPase-activating protein 5;rho-type GTPase-activating protein 5 APPROVED protein-coding ENSG00000100852 675 04060 602680 REVIEWED 1344910 ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) 14 14 14 q12 12411038 12412318 - 31614376 31615607 - 32544625 32545905 - 6480464 16341674;15489334;12477932 84837 Q96IT6 ABBA01061428;AF147421;AI493138;AK314153;AL161665;AMYH01005643;BC007251;BM745256;CH471078;NR_027263 BAG36839;EAW65939;EAW65940;Q96IT6 Hs.496755 1671314;2122254 RH68433;SHGC-36390 C14orf128;MGC15504 APPROVED miscrna ENSG00000258655 20279 VALIDATED 1604841 ARHGAP44 Rho GTPase activating protein 44 17 17 17 p12 12718166 12920275 + 12633554 12835685 + 12692829 12894960 + 6480464 16344560;15489334;14702039;12477932;11431473;9734811;16169070;21107268;19273615;22566634 9912 A6NCP5;E7ERK8;F5H6L3;J3KRS3;J3QQU7;K7EK86;Q17R89;Q69Z00 AB014572;ABBA01055008;ABBA01055009;ABBA01055010;ABBA01055011;ABBA01055012;ABBA01055013;AC005274;AC005277;AK023797;AK294538;AL080100;AL096728;AMYH01008120;AMYH01008121;AY320403;BC022452;BC070074;BC094754;BC117412;BC117416;BC143852;BC143853;BC143855;BC143856;BM993036;CH471108;DA403021;DB461035;NM_014859 AAH22452;AAI17413;AAI17417;AAI43854;AAP73805;BAA31647;BAG57745;CAB46376;CAH10728;EAW89965;EAW89966;EAW89967;EAW89968;EAW89969;NP_055674;Q17R89 Hs.499758 1299913;1677102;1736636;1754321;2129366;2191793;7185389 D17S1477E;D17S947;MARC_7897-7898:996688141:1;RH45714;SHGC-132349;STS-N70341 KIAA0672;NPC-A-10;RICH2 OTTHUMP00000064673;RICH-2;Rho-type GTPase-activating protein RICH2;RhoGAP interacting with CIP4 homologs protein 2;rho GTPase-activating protein 44;rho GTPase-activating protein RICH2 APPROVED protein-coding ENSG00000006740 29096 13810 VALIDATED 1313314 ARHGAP9 Rho GTPase activating protein 9 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 57520025 57527620 - 56152305 56159900 - 57866038 57873633 - 1580863;6480464;7240710 16344560;16189514;15489334;15231748;14702039;12477932;12297274;11396949;17284314;19807924;19911011;21832049;21890473;22505724 64333 F8VQR0;F8VQY5;F8VR90;F8VSD0;F8VW89;F8W1N6;H0YI33;H0YI36;J3KPQ4;Q9BRR9;R4GN15 AB030239;AB051853;ABBA01026701;AC022506;AF161339;AK057573;AK092763;AK131415;AK300910;AK301095;AK304107;AL713803;AMYH01004518;BC006107;BC011820;CB528354;CH471054;DA675251;NG_023205;NM_001080156;NM_001080157;NM_032496 AAF28899;AAH06107;AAH11820;ABM87429;ABW03888;BAB56159;BAB83128;BAC03969;BAD18562;BAG51936;BAG62545;BAG62695;BAG65010;CAD28552;EAW97014;EAW97015;EAW97016;EAW97017;EAW97018;NP_001073625;NP_001073626;NP_115885;Q9BRR9 Hs.437126 1698778;1744029;1774019;1792710;2157183 D12S1934;GDB:384866;PMC156767P1;RH102952;STS-X07384 10C;FLJ16525;MGC1295;RGL1 OTTHUMP00000196432;OTTHUMP00000196433;OTTHUMP00000242579;OTTHUMP00000242581;rho GTPase-activating protein 9;rho-type GTPase-activating protein 9 APPROVED protein-coding ENSG00000123329 14130 06449 610576 REVIEWED 1354371 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha Aplysia Ras-related homologs (ARHs), also called Rho genes, belong to the RAS gene superfamily encoding small guanine nucleotide exchange (GTP/GDP) factors. The ARH proteins may be kept in the inactive, GDP-bound state by interaction with GDP dissociation inhibitors, such as ARHGDIA (Leffers et al., 1993 [PubMed 8262133]).[supplied by OMIM, Jan 2009] 17 17 q25.3 77418886 77422527 - 79825597 79829282 - 1580863;6480464;6484113;6907045 8262133;17353931;16130169;18992375;18768928;18702520;18651761;18524772;18070886;17909265;17653765;17330946;16943322;16916647;16236267;16169070;15513926;15489334;12477932;11513579;11513578;11320308;11149925;10713718;10676816;10673424;10664460;10346909;9681826;9490022;9287351;9195882;9186513;16526095;11368848;11809807;15659383;15225553;22393046;20628200;21145461;21319273;22532870;20472934;19401544;17335080;20043072;20305651;20381070;10489445;10595511;12692556;12951563;15128850;16215275;20812987;20936779;20400958;20696765;20711218;21447808;20846184;21402697;21569526;22939629;21548210;21327297;21757538;15952105;22053931;22505724;20639865;21269984;21900206;23358418;22668020;21681778;21693764;21906983;19471022;22530308;22586326;21044950;21139048;21890473;23000965;22628549 396 J3KRE2;J3KRY1;J3KS60;J3KTF8;J3QQX2;P52565 ABBA01019648;ABBA01019649;AC137723;AC145207;AF498926;AK293147;AK300816;AK312347;AMYH01008721;AMYH01008722;BC005851;BC005875;BC007630;BC008701;BC009759;BC013846;BC016031;BC016185;BC024258;BC027730;BC028333;BC075827;BC106044;BM552638;BT006884;CH471099;CR456777;D13989;DC406556;M97579;NM_001185077;NM_001185078;NM_004309;X63863;X69550 AAA36566;AAH05851;AAH05875;AAH08701;AAH09759;AAH16031;AAH16185;AAH24258;AAH27730;AAH75827;AAI06045;AAM21074;AAP35530;ABM82043;ABM85222;BAA03096;BAG35268;BAG56694;BAG62471;CAA45344;CAA49281;CAG33058;EAW89697;EAW89698;NP_001172006;NP_001172007;NP_004300;P52565 Hs.159161 2115369 RH16023 GDIA1;MGC117248;NPHS8;RHOGDI;RHOGDI-1 rho GDI 1;rho GDP-dissociation inhibitor 1;rho-GDI alpha APPROVED protein-coding ENSG00000141522 678 03565 601925;615244 VALIDATED 1605662 ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like ARHGEF10L is a member of the RhoGEF family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases (Winkler et al., 2005 [PubMed 16112081]).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 16191428 16350418 + 17738917 17896957 + 17866330 18024370 + 6480464 18849993;16112081;14702039;12477932;10997877;16169070;19911011;20379614;22095909;23251661 55160 B4DTE2;Q5VXI4;Q8NAV5 AB046846;ABBA01000279;ABBA01000280;ABBA01000281;ABBA01000282;ABBA01000283;ABBA01000284;AK001383;AK092020;AK123471;AK126877;AK129606;AK129959;AK300174;AK300264;AK311076;AL139250;AL358593;AL390994;AMYH01000300;AMYH01000301;AW455769;BC003073;BC029928;BC065561;BC080596;BC111058;BC117171;BC143347;BX538146;CH471134;DQ139833;NM_001011722;NM_018125 AAH65561;AAH80596;AAI17172;AAI43348;AAZ73162;ADR83391;BAA91663;BAB13452;BAC03792;BAG54386;BAG61954;BAG62025;EAW94840;EAW94841;EAW94842;EAW94843;EAW94844;NP_001011722;NP_060595;Q9HCE6 Hs.443460 1648308;1663104;1732844;1733172;1735966;1761805;2123123;2133678;2180185;5022450;5024413;5037552 D10S275;D1S1283;D1S1474;D1S1954E;D1S544;D8S2279;G17701;HSC1HH062;L17877;SHGC-145764;SHGC-74299;SHGC-74357 FLJ10521;GrinchGEF;KIAA1626;RP11-473A10.1 OTTHUMP00000002615;OTTHUMP00000002616;OTTHUMP00000002617;rho guanine nucleotide exchange factor 10-like protein APPROVED protein-coding ENSG00000074964 25540 07679 612494 VALIDATED 1313380 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010] 12 12 p12.3 14986217 15005829 - 15094950 15114562 - 1580863;6480464;6907045 8262133;8356058;16130169;8434008;9113980;19351766;19321744;19276387;19269969;18689726;18676680;18037226;18006811;17826660;17487395;15592455;15489334;15173088;12477932;12386169;12203895;11989976;11368848;10779444;10664460;10655614;9799233;9490022;9287351;7896279;7513052;2226408;18303015;11809807;19064571;19170196;19509238;19625176;19692168;20013033;8626669;20596634;20375790;21067243;21832049;21695085;19655254;22505724;21861235;22353809;21986528;21890473;21900206;21936715;22406535;22364609;22674302;22777355;23206989;22469974;7782346 397 F5H2R5;F5H3P3;F5H6Q0;H0YGX7;P52566 AA143425;AB451315;AB451445;ABBA01067887;AC007655;AF498927;AK311807;AMYH01004304;BC009200;CH471094;FB571118;FB668249;L07916;L20688;NM_001175;X69549 AAA59539;AAH09200;AAM21075;ABM84229;ABM87475;BAG34750;BAG70129;BAG70259;CAA49280;CAR95110;CAS92768;EAW96336;EAW96337;EAW96338;EAW96339;EAW96340;EAW96341;EAW96342;NP_001166;P52566 Hs.504877 1725981;1734008;1795390;2130074;5123285 ARHGDIB_1466;D12S1115;G62403;RH126;SHGC-12871 D4;GDIA2;GDID4;LYGDI;Ly-GDI;RAP1GN1;RhoGDI2 OTTHUMP00000239340;OTTHUMP00000239341;OTTHUMP00000239342;OTTHUMP00000239343;OTTHUMP00000239344;Rho GDI 2;rho GDP-dissociation inhibitor 2;rho-GDI beta APPROVED protein-coding ENSG00000111348 679 04162 602843 VALIDATED 1346816 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. [provided by RefSeq, Jul 2008] 8 8 8 p23 1715545 1849273 + 1759556 1894214 + 1772149 1906807 + 1580863;6480464;7240710 17893707;16896804;15489334;15146197;14508709;12477932;12168954;9314494;9205841;19615732;19635168;20042462;20379614;21719701;21743172;22863883;23412934 9639 E9PB39;H0YAN8;O15013 AA758332;AB002292;ABBA01016746;ABBA01016747;ABBA01016748;AC019257;AF009205;AI348138;AK309799;AL137508;AMYH01018279;AMYH01018280;BC026965;BC036809;BC040474;BC112926;CH471181;CN307765;CQ766815;CR749570;NG_008480;NM_014629 AAB71662;AAH36809;AAH40474;AAI12927;BAA20754;CAF33078;CAH10696;CAH18365;EAW51480;EAW51481;EAW51482;EAW51483;EAW51484;NP_055444;O15013 Hs.98594 1643868;1679209;1685914;1708676;1715849;1727737;1771933;2115107;2134908;2183433;2217022;5037552 AF009206;AF009213;AF009214;ARHGEF10_3936;D8S2279;G63133;RH119618;RH79054;RH92255;RH98569;SHGC-81479;WI-11694 DKFZp686H0726;GEF10;MGC131664 OTTHUMP00000224478;OTTHUMP00000224479;OTTHUMP00000224480;OTTHUMP00000224481;rho guanine nucleotide exchange factor 10 APPROVED protein-coding ENSG00000104728 14103 09735 608136;608236 REVIEWED 1321818 ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010] 16 16 16 p13.3 530508 532906 + 270607 273004 + 330606 333003 + 1580863;6480464 9113980;15616553;15513926;15489334;12477932;11967128;11157797;9787082;8939998;8889548;11809807;14764880;21697133;20098615 398 A2ID99;C9J3B5;C9J9L9;C9JR26;F1T0H7;Q99819 AB593111;ABBA01030379;ABBA01030380;ABBA01030381;AE006463;AF080237;AF498928;AMYH01006988;BC047699;BM662457;BU732723;CH471112;NM_001176;U82532;Z69667 AAC33138;AAC72354;AAH47699;AAK61222;AAM21076;BAJ84051;CAI95584;CAI95585;CAM26353;EAW85837;NP_001167;Q99819 Hs.647388 1655114;1800744;1802368;1809570;1813390;1814346;1820840;1821132;1821192;1842726;2048400;2048402;2048404;2048406;2048410;2048412;2048414;2048416;2048418;2048420;2048422;2048424;2048430;2048432;2048436;2048440;2048444;2048446;2048448;2048450;2048452;2048454;2048456;2048458;2048460;2048462;2048464;2048466;2048468;2048470;2048472;2048474;2048476;2048478;2048480;2048482;2048484;2104578;2104580;2104582;2104584;2104586 ECD01233;ECD02068;ECD05777;ECD07716;ECD08202;ECD11496;ECD11643;ECD11673;ECD22570;REN95338;REN95339;REN95340;REN95341;REN95343;REN95344;REN95345;REN95346;REN95347;REN95348;REN95349;REN95350;REN95353;REN95354;REN95356;REN95358;REN95360;REN95361;REN95362;REN95363;REN95364;REN95365;REN95366;REN95367;REN95368;REN95369;REN95370;REN95371;REN95374;REN95375;REN95376;REN95377;REN95378;REN95379;REN95380;REN95381;REN95382;RH71265;stSG608995;stSG608996;stSG608998;stSG608999;stSG609003 RHOGDI-3 OTTHUMP00000067352;OTTHUMP00000067353;OTTHUMP00000194914;RhoGDI gamma;rho GDI 3;rho GDP-dissociation inhibitor 3;rho-GDI gamma APPROVED protein-coding ENSG00000242173 680 04163 602844 VALIDATED 1351280 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 19 19 q13.13 47079107 47103444 + 42387267 42411604 + 6480464;6484113 12270917;8810315;12681510;10747909;11313914;10648409;18320579;17493936;15753034;15735747;15489334;15143072;14712228;12754211;12748184;12534370;12525488;12477932;12372594;11524686;11384980;11358341;9641916;9641915;9135076;10556093;14634662;12581858;10608806;21145461;22661716;20936779;12692556;12951563;16215275;17335080;17643375;18029348;19720875;19911011;20619149;19913121;20628086;21064165;21454492;22863883;23070684;15090612;21890473;21900206;21906983;22086927;22500016;22505724 9138 M0QXV6;M0QYC1;M0QYS3;M0QZH8;M0QZR4;M0R1K8;M0R2C7;M0R3H5;Q6NX52;Q92888 ABBA01040816;ABBA01040817;AC010616;AK026781;AL832294;AMYH01009820;BC005155;BC011726;BC015652;BC034013;BC035127;BC064996;BC067262;BM147791;BQ944132;BT007421;CH471126;NM_004706;NM_198977;NM_199002;U64105 AAB17896;AAH05155;AAH11726;AAH34013;AAH35127;AAH67262;AAP36089;ABM84518;ABM85930;ACE87053;ACE87735;EAW57077;EAW57078;EAW57079;EAW57080;EAW57081;EAW57082;EAW57083;EAW57084;NP_004697;NP_945328;NP_945353;Q92888 Hs.631550 1643897;1689927;5016478 GDB:434012;RH92886;WI-15934 GEF1;LBCL2;LSC;P115-RHOGEF;SUB1.5 115 kDa guanine nucleotide exchange factor;115-kD protein;Lsc homolog;p115RhoGEF;rho guanine nucleotide exchange factor 1 APPROVED protein-coding ENSG00000076928 681 03511 601855 REVIEWED 734056 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 q21 155171256 155281786 - 156904632 157015162 - 1580863;6480464 15755723;10026210;19460155;18231709;18086913;17369523;17287471;17081983;16710414;16691626;16478718;16192272;15143072;14742719;14684465;14625312;12477932;12421765;12372594;12183458;11470431;11242047;10900204;10526156;9205841;12730235;12220504;12123608;21210224;21454492;11756498;12376548;12787561;15530360;16192269;17474147;18029348;19618964;19759375;20379614;20800603;20936779;20613766;21816819;21139048;19322201;17620599 9826 F8W8P9;O15085 AB002378;ABBA01016640;ABBA01016641;AK302500;AL157713;AL356104;AL832790;AMYH01001441;BC057394;CH471121;NM_014784;NM_198236 AAH57394;BAA20834;BAH13728;EAW52892;EAW52893;EAW52894;NP_055599;NP_937879;O15085 Hs.516954 1664946;1692132;1703378;1755699;1761947;1766261;2123832;2124635;2133873 AL034019;RH45970;RH64623;RH68042;SHGC-142538;SHGC-145882;SHGC-149619;SHGC-68674;STS-AA039568 DKFZp667F1223;GTRAP48;KIAA0380;PDZ-RHOGEF OTTHUMP00000038716;OTTHUMP00000038717;Rho guanine exchange factor (GEF) 11;RhoA-specific guanine nucleotide exchange factor;RhoGEF glutamate transport modulator;glutamate transporter EAAT4-associated protein 48;rho guanine nucleotide exchange factor 11;rhogef glutamate transport modulator gtrap48 APPROVED protein-coding ENSG00000132694 14580 09302 605708 REVIEWED 6481190 ARHGEF19-AS1 ARHGEF19 antisense RNA 1 100874233 AL109627 APPROVED miscrna 39996 1312400 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008] 1 1 1 p36.13 15004527 15018992 - 16397186 16411691 - 16524599 16539104 - 737633;1580863;6480464 12477932 15485661;14702039;21906983 128272 H0Y4D8;Q5TEV0;Q8IW93 ABBA01004679;AK091281;AK297707;AL109627;AL137736;AMYH01000280;BC012982;BC040640;CH471167;NM_153213 AAH12982;AAH40640;BAC03627;BAG60064;EAW51771;NP_694945;Q8IW93 Hs.591532 1678835;1696720;2107849 ARHGEF19_8138;RH91904;SHGC-77876 FLJ33962;RP4-733M16.1;WGEF OTTHUMP00000002239;ephexin-2;rho guanine nucleotide exchange factor 19;weakly similar to Rho GEF APPROVED protein-coding ENSG00000142632 26604 10659 612496 PROVISIONAL 1312950 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 11 11 q23.3 119713156 119865855 + 120207618 120360645 + 1580863;6480464;6907045;7240710 11094164;15755723;16192269;19273616;19074425;18411422;17766704;16644711;16565089;16192274;15345747;15331592;15143072;12515866;12477932;12376551;12372594;12220504;12196628;12183458;11799111;11724822;11373293;10681437;9205841;14712228;21454492;20018869;20702813;20800603;11756498;12123608;12376548;12787561;19560536;19734946;19911011;20348106;20379614;21670212;17620599;22962269;21139048;22100544;20963938;23405219;23207522;22190034 23365 B4E2K6;E9PMR6;Q9NZN5 AB002380;ABBA01039657;ABBA01039658;AF119898;AF180681;AK294803;AK304316;AL137456;AMYH01004089;AMYH01004090;AP000659;AP000758;AP001150;BC031784;BC063117;BX647785;BX648515;CH471065;NG_027960;NM_001198665;NM_015313 AAF36817;AAF69652;AAH63117;AAI52901;BAA20836;BAG57923;BAG65168;EAW67508;EAW67509;EAW67510;NP_001185594;NP_056128;Q9NZN5 Hs.24598 1652387;1676724;1752881;2117313;2123358;2130249;2131237;2164818;2164820;2171067;2172226;2218726;5093484;7186097;7186098 A005R48;A009P33;ARHGEF12_3798;D11S2318E;D11S4343;G20457;G29223;G32745;RH17448;RH36486;RH92805;SHGC-106833;WI-21762 DKFZp686O2372;KIAA0382;LARG;PRO2792 OTTHUMP00000231993;OTTHUMP00000231994;leukemia-associated RhoGEF;leukemia-associated rho guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 12 APPROVED protein-coding ENSG00000196914 14193 09207 601626;604763 REVIEWED 1320476 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 11 11 11 q13.4 70324908 70385824 + 72697317 72757784 + 73019663 73080425 + 1580863;6480464 12071859;18029348;18677770;12477932;11559528;9205841;8889548;15778465;11756498;12376548;12787561;19911011;21139048;23284291;22911862 9828 H0YFZ8;Q96PE2 AB002335;ABBA01017522;AF378754;AI312037;AK074500;AMYH01003801;AMYH01003802;AP000562;AP002761;BC050031;BC137228;BM684780;CH471076;NM_014786 AAH50031;AAI37229;AAL11991;BAA20795;EAW74891;NP_055601;Q96PE2 Hs.533719;Hs.573929 1644877;1652016;1782276 RH16016;SHGC-112124;WI-18441 FLJ90019;KIAA0337;P164RHOGEF;TEM4;p164-RhoGEF 164 kDa Rho-specific guanine-nucleotide exchange factor;OTTHUMP00000237515;Rho-specific guanine-nucleotide exchange factor 164 kDa;rho guanine nucleotide exchange factor 17;tumor endothelial marker 4 protein-coding ENSG00000110237 21726 10658 VALIDATED 1322915 ARHGEF18 Rho/Rac guanine nucleotide exchange factor (GEF) 18 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 19 19 19 p13.3 7331115 7409876 + 7351866 7443371 + 7459999 7537371 + 1580863;6480464 16344560;14512443;12477932;11318610;11085924;9628581;20810787;11756498;12376548;12787561;17643375;20200978;21258369;20811636;18029348;22006950 23370 M0QZS0;M0R125;Q6ZSZ5 AA609742;AA829883;AB011093;ABBA01006121;ABBA01006122;ABBA01006123;ABBA01006124;ABBA01006125;ABBA01006126;ABBA01006127;ABBA01006128;ABBA01010902;ABBA01010903;ABBA01010904;AC008878;AC119396;AK074372;AK127045;AMYH01009403;AMYH01009404;AMYH01009405;BC008016;BC014994;BC077721;BQ055909;BX404969;DB075637;NM_001130955;NM_015318 AAH77721;BAA25447;BAC86801;NP_001124427;NP_056133;Q6ZSZ5 Hs.465761;Hs.736818 1340746;1770216;1775484;2107847;2157737 2058;ARHGEF18_8009;D19S901;RH78224;WI-14772 KIAA0521;MGC15913;P114-RhoGEF 114 kDa Rho-specific guanine nucleotide exchange factor;P114-RHO-GEF;Rho-specific guanine nucleotide exchange factor p114;Rho/Rac guanine nucleotide exchange factor 18;SA-RhoGEF;p114RhoGEF;rho guanine nucleotide exchange factor 18;septin-associated RhoGEF APPROVED protein-coding ENSG00000104880 17090 12479 REVIEWED 1347062 ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008] 1 1 1 p36.3 2624447 2650733 + 3369982 3387537 + 3371147 3397677 + 6480464 16710414;16344560;15489334;14702039;12477932;15778465;22889411;20339536;20679435;11756498;12376548;12787561;19911011;19707205;21139582;15161933 27237 B0QZD3;B0QZD4;B3KTS4;B4DJM7;Q5VV41 ABBA01073658;ABBA01073659;ABBA01073660;AK091910;AK095984;AK296150;AK310408;AL512413;AMYH01000188;AMYH01000189;BC002681;BC051838;BT007270;CH471130;D89016;DA539376;DB499586;NM_014448 AAH02681;AAH51838;AAP35934;ABM84739;ABM92254;BAA13745;BAG53186;BAG58889;EAW71452;EAW71453;NP_055263;Q5VV41 Hs.87435 1770023;2113216 D1S3709E;SHGC-74074 GEF16;NBR OTTHUMP00000000683;OTTHUMP00000000684;OTTHUMP00000000685;Rho guanine exchange factor (GEF) 16;ephexin-4;rho guanine nucleotide exchange factor 16 APPROVED protein-coding ENSG00000130762 15515 12478 REVIEWED 1315873 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010] 17 17 17 p13.1 8244326 8256604 + 8154315 8166554 + 8213556 8225834 + 1580863;6480464;6484113 16189514;15489334;14702039;12775584;12477932;12168954;10048485;15604093;19911011;16344560;21029857;23029280;21029865 22899 J3KT46;J3QQS4;J3QS60;O94989 AB020722;ABBA01054911;AC135178;AK023853;AK291626;AK300327;AL601528;AMYH01008090;BC036749;BQ004849;BQ877184;CH471108;DA632576;DB279954;NM_025014;NM_173728 AAH36749;BAA74938;BAF84315;BAG62077;EAW90060;EAW90061;NP_079290;NP_776089;O94989 Hs.443109 1686879;1694428;2130553;5037552 D8S2279;G42912;RH78291;RH80720 ARGEF15;E5;Ephexin5;FLJ13791;KIAA0915;MGC44868;Vsm-RhoGEF OTTHUMP00000135329;Rho GEF 15;Rho guanine exchange factor (GEF) 15;ephexin-5;rho guanine nucleotide exchange factor 15 APPROVED protein-coding ENSG00000198844 15590 10535 608504 REVIEWED 1601833 ARHGEF25 Rho guanine nucleotide exchange factor (GEF) 25 Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 q13.3 56291485 56297293 + 58003963 58011028 + 6480464 20739613;18096806;16496360;16314529;15632174;15322108;15069594;12547822;12477932;11861769;18851832;18936096;21663592;21885830;22147804;21832057 115557 Q86VW2 AB370196;ABBA01026695;AC025165;AF487514;AI677902;AMYH01004522;BC012860;BC018536;BC047559;DB481981;NM_001111270;NM_182947;NR_046223 AAH12860;AAH18536;AAH47559;AAO49463;BAF94999;NP_001104740;NP_891992;Q86VW2 Hs.61581 1681919;2218522 DTX3__4788;RH94136 GEFT;p63RhoGEF OTTHUMP00000201858;OTTHUMP00000201859;RhoA/RAC/CDC42 exchange factor;guanine nucleotide exchange factor GEFT;rac/Cdc42/Rho exchange factor GEFT;rho guanine nucleotide exchange factor 25;rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT APPROVED protein-coding ENSG00000240771 30275 13573 610215 VALIDATED 6481155 ARHGEF3-AS1 ARHGEF3 antisense RNA 1 3 56974068 56994882 + 100874200 ABBA01024429;AC099327;AC099559;AMYH01013212;BX090838;NR_046572 Hs.549631 APPROVED miscrna ENSG00000240198 40083 VALIDATED 3516342 ARHGEF33 Rho guanine nucleotide exchange factor (GEF) 33 2 2 p22.1 38987224 39043310 + 39146504 39202590 + 14702039;15815621 100271715 A8MVX0;H7C1C9;H7C3S6 ABBA01075022;AC018693;AC019171;AK123375;AMYH01010269;AW468668;BX116314;DV080125;DV080126;DV080278;DV080660;DY654603;DY654636;NM_001145451 A8MVX0;NP_001138923 Hs.99841 1694802;1697402;1719037;1719065;1721629;1734850 D2S1598E;G43628;G59825;RH102201;RH123225;RH123836 FLJ41381 DH and coiled-coil domain-containing protein ENSP00000381780;OTTHUMP00000204068;rho guanine nucleotide exchange factor 33 protein-coding ENSG00000214694 37252 VALIDATED 1603402 ARHGEF26 Rho guanine nucleotide exchange factor (GEF) 26 This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 3 3 3 q25.2 152256672 152396290 + 155321884 155457031 + 153838792 153975616 + 6480464 15221005;12697679;16344560;15133129;14702039;12477932;22383878;21332407;22824926 26084 B3KXG0;Q9H9D7 AB073386;ABBA01058871;ABBA01058872;ABBA01058873;AC018452;AF415175;AF415176;AK022655;AK022884;AK123040;AK127282;AL117429;AMYH01013589;AMYH01013590;AY552599;BC016628;BC078655;CH471052;DA248533;DB069290;FJ695204;NG_030405;NM_001251962;NM_001251963;NM_015595 AAH16628;AAH78655;AAL27001;AAL27002;AAS59842;BAB14159;BAB14292;BAD38637;BAG53860;BAG54472;CAB55918;EAW78764;NP_001238891;NP_001238892;NP_056410;Q96DR7 Hs.240845 1338640;1651927;1661080;1698022;1713453;1720105;1771880;2106605;2164068;5037552;5124909 A004B27;D3S2374;D3S3058;D3S3677;D8S2279;RH102541;RH119585;RH123794;RH93982;SGEF__5393;SHGC-30578 CSGEF;DKFZp434D146;HMFN1864;SGEF OTTHUMP00000217165;OTTHUMP00000217166;OTTHUMP00000217167;SH3 domain-containing guanine exchange factor;Src homology 3 domain-containing guanine nucleotide exchange factor;rho guanine nucleotide exchange factor 26 APPROVED protein-coding ENSG00000114790 24490 11554 REVIEWED 5144507 ARHGEF26-AS1 ARHGEF26 antisense RNA 1 3 3 q25 152159707 152256522 - 153742190 153838999 - 12477932 100507524 ABBA01058873;AC018452;AC068985;AC073908;AC128717;AMYH01013589;BC038431;NR_037901 Hs.370221 1749993;2142228;2147710;2183741 078XF7;SHGC-10223;SHGC-111699;SHGC-57137 APPROVED miscrna ENSG00000243069 41048 VALIDATED 1312226 ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] 1 1 q21-q22 154183269 154214575 - 155916630 155948336 - 6480464;6484113;6907045 22298430;22513363;22898781;9857026;18287519;18095154;17488622;16964243;16778209;16565220;16381901;15866167;15827085;15489336;15324660;15302935;15146197;14970201;14702039;14676191;12477932;12384139;11912491;11595749;11230166;11076863;9734811;2466560;9843499;17353931;21352810;11756498;12376548;12787561;17643375;19043560;19615732;19625450;19667072;19805522;19911011;20089843;21212278;18211802;20803552;20558775;23022380;23383273;21513698;22226472;17314511;21887730;19596686;22072711;21139048;21906983;22226621;19322201;22002306;22301607;21525035;22678362;22959728;23000965;22593214;22505724 9181 Q5VY93;Q92974 AB014551;ABBA01016680;AF486838;AI925929;AK127366;AK295924;AK304548;AL355388;AL512715;AL832538;AMYH01001433;BC020567;BC027722;BT007407;CH471121;CN264153;CN388788;NM_001162383;NM_001162384;NM_004723;U72206;X15610 AAC97383;AAH20567;AAL96658;AAP36075;ABM82415;ABM85604;BAA31626;BAG58711;BAH14213;CAA33634;CAC21656;CAL38183;EAW53012;EAW53013;EAW53014;EAW53015;EAW53016;EAW53017;EAW53018;NP_001155855;NP_001155856;NP_004714;Q92974 Hs.743352 1684999;1731351;1846700;1851322;2110261;2161367 ARHGEF2_7937;D21S1418;G15881;RH12218;RH70822;RH93673 DKFZp547L106;DKFZp547P1516;FLJ45440;GEF;GEF-H1;GEFH1;KIAA0651;LFP40;P40 OTTHUMP00000018854;OTTHUMP00000018855;OTTHUMP00000018856;OTTHUMP00000018857;Rho/Rac guanine nucleotide exchange factor 2;guanine nucleotide exchange factor H1;microtubule-regulated Rho-GEF;proliferating cell nucleolar antigen p40;rho guanine nucleotide exchange factor 2 APPROVED protein-coding ENSG00000116584 682 10458 607560 VALIDATED 6480965 ARHGEF38-IT1 ARHGEF38 intronic transcript 1 (non-protein coding) 4 106482748 106491395 + 100874374 ABBA01063735;AC004066;AMYH01014443;BX108310;NR_046840 Hs.668908 miscrna 41483 PREDICTED 7243794 ARHGEF34P Rho guanine nucleotide exchange factor (GEF) 34, pseudogene 12477932;15252450;9847074 728377 ABBA01000976;ABBA01153768;AC004889;AC074386;AMYH01018074;BC107871;DQ786236;DQ786285;NR_033942 AAI07872 Hs.744262 1699346 RH103260 pseudo 38086 VALIDATED 6892765 ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 5 q13.2 72921983 73237818 + 6480464 22835604;23509962;10574993;11058585;11533041;12056414;12477932;14702039;17595347;18029348;19488899;20200978;20379614;21224360;21502573;8889548;9199174;22941224 64283 D6RAP0;D6RGZ3;Q9H6L3 AB082529;ABBA01061921;AC008387;AC026702;AC091868;AC093283;AK025470;AK025816;AK094713;AK129761;AK304761;AMYH01015406;AMYH01015407;BC012946;BC157846;BC171850;BG696752;CN478799;CR936816;NG_017198;NM_001080479;NM_001177693;NM_001244364 AAH12946;AAI57847;AAI67854;AAI71850;BAB15141;BAB15243;BAC02707;BAC04405;BAG65516;NP_001073948;NP_001171164;NP_001231293;Q8N1W1 Hs.482521 1650784;1656561;1660861;1686602;1709178;1711340;1719435;1725333;1725377;1729950;1755643;1856393;2123568;2144321;5015861;5016478;7185938 A007G27;AFMA189XH9;D10S16;D5S112;DYS397;GDB:434012;RH118984;RH119006;RH123435;RH12825;RH65196;RH77867;RH99129;SHGC-142494;SHGC-84925;SHGC-85752 RGNEF;RIP2;p190RHOGEF 190 kDa guanine nucleotide exchange factor;Rho interacting protein 2;p190-RhoGEF;rho guanine nucleotide exchange factor 28;rho-guanine nucleotide exchange factor protein-coding ENSG00000214944 30322 612790 REVIEWED 1604887 ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 7 7 7 q35 138516492 138517348 - 143514610 143523669 - 143883176 143892791 - 12477932;16344560;21906983;19322201 445328 A5YM69 ABBA01000976;AC004889;AK125680;AMYH01018074;BC136868;BC136878;DA646728;EF560743;NM_001003702 A5YM69;AAI36869;AAI36879;ABQ59053;BAC86243;NP_001003702 Hs.534621 1854569 G27651 ARHGEF5L;CTAGE4;FLJ43692 ARHGEF5-like;OTTHUMP00000212575;Rho guanine nucleotide exchange factor (GEF) 5-like;rho guanine nucleotide exchange factor 35;rho guanine nucleotide exchange factor 5-like protein APPROVED protein-coding ENSG00000213214 33846 13476 VALIDATED 1321248 ARHGEF39 Rho guanine nucleotide exchange factor (GEF) 39 9 9 9 p13.3 35592890 35598827 - 35649341 35655278 - 35659341 35665278 - 737633;6480464 12477932 16344560;14702039;16189514;22327280;8125298;21139048;21906983;22505724 84904 Q8N4T4 ABBA01064988;AK001187;AK027548;AK225501;AK225529;AK303513;AL357874;AMYH01019347;AY390225;AY390226;BC033666;BC038673;CH471071;DB109516;NM_032818 AAH33666;AAR01010;AAR01011;BAB55192;BAG64543;EAW58360;EAW58361;EAW58362;EAW58363;NP_116207;Q8N4T4 Hs.744402 5015961;5020948;5037552 D15S1477;D8S2279;G35510 C9orf100;FLJ14642;MGC44886;RP11-331F9.7 OTTHUMP00000021339;OTTHUMP00000021340;OTTHUMP00000021341;rho guanine nucleotide exchange factor 39;vav-like protein C9orf100 APPROVED protein-coding ENSG00000137135 25909 12929 VALIDATED 1603216 ARHGEF38 Rho guanine nucleotide exchange factor (GEF) 38 4 4 4 q24 103772904 103851995 + 106693226 106772286 + 106473777 106602070 + 6480464 18519826;12477932;19911011;20010835;20332099;20379614 54848 Q9NXL2 ABBA01063735;AC004066;AC105391;AK000191;AK125951;AMYH01014443;BC105695;CH471057;DT932593;NM_001242729;NM_017700 AAI05696;BAA90998;EAX06185;EAX06186;EAX06187;NP_001229658;NP_060170;Q9NXL2 Hs.585224;Hs.652842;Hs.744739 1755467 SHGC-142334 FLJ20184;FLJ43963 OTTHUMP00000206608;OTTHUMP00000219756;rho guanine nucleotide exchange factor 38 APPROVED protein-coding ENSG00000236699 25968 08613 VALIDATED 6481181 ARHGEF7-AS1 ARHGEF7 antisense RNA 1 100874226 AL353704 APPROVED miscrna 39816 1602402 ARHGEF37 Rho guanine nucleotide exchange factor (GEF) 37 5 5 5 q32 145043054 145096412 + 148941328 148994720 + 148961135 149014527 + 6480464 14702039;12477932;23377640 389337 A1IGU5;D6RJH4 AB199796;ABBA01026300;ABBA01026301;AC021078;AC022100;AC116360;AK023814;AK123597;AK300355;AK300559;AK316002;AMYH01015701;BC041325;BF508325;BF510234;CH471062;NM_001001669 A1IGU5;BAC85655;BAF43710;BAG62096;BAG62265;BAH14373;EAW61765;EAW61766;NP_001001669 Hs.256206 1335371;1677484;1700426;1760647;5015861;7185938 D10S16;D5S812;RH103834;RH69939;SHGC-144191 FLJ41603 OTTHUMP00000224087;Rho guanine nucleotide exchange factor (GEF) 37;rho guanine nucleotide exchange factor 37 APPROVED protein-coding ENSG00000183111 34430 13454 VALIDATED 6481199 ARHGEF7-AS2 ARHGEF7 antisense RNA 2 100874238 AL353704 APPROVED miscrna 40717 1321712 ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p14.3 56736486 56810993 - 56761446 57113336 - 6480464 10873612;19427924;19110211;18499081;16381901;16344560;15489336;15489334;14702039;12477932;12221096;11230166;11076863;8125298;21452313;11256614;11756498;12376548;12787561;19727905;19820697;19911011;20379614;16236267;19471022;22505724;23251661;23263863;22139419 50650 C9J586;C9J5K8;C9J609;C9JNF2;E7EU49;E9PG37;F8WC29;F8WDB7;H7C4P0;Q7Z5T2 AB209661;ABBA01024428;ABBA01024429;ABBA01024430;ABBA01024431;ABBA01024432;ABBA01024433;ABBA01024434;ABBA01024435;ABBA01024436;ABBA01024437;ABBA01024438;ABBA01024439;AC097358;AC099327;AC099559;AC099781;AF249744;AF433662;AK024340;AK225688;AK291412;AK293864;AK300045;AK302493;AK308178;AL136832;AMYH01013212;AMYH01013213;AMYH01013214;AMYH01013215;AX002254;AX775923;BC022249;BC054345;BC068513;BC094748;BC098122;BC098272;BC099715;BC104723;CH471055;DA401228;DC334437;DC334772;NM_001128615;NM_001128616;NM_019555 AAF79954;AAH54345;AAH68513;AAH98122;AAH98272;AAH99715;AAI04724;AAP97313;BAB14891;BAD92898;BAF84101;BAH11616;BAH13198;BAH13724;CAB66766;CAE11661;CAL37874;EAW65325;EAW65326;NP_001122087;NP_001122088;NP_062455;Q9NR81 Hs.476402 1698034;1723075;1727387;1750475;1755349;1765309;1766617;1784576;1784584;1784606;1848816;1849579;2144254;2166089;2217024 ARHGEF3_3819;D3S2400;D3S3994;D3S4139;G63101;RH102548;RH121889;SHGC-110754;SHGC-111452;SHGC-111779;SHGC-111964;SHGC-142232;SHGC-148804;SHGC-149919;WIAF-1489 DKFZp434F2429;FLJ98126;GEF3;MGC118905;STA3;XPLN 59.8 kDA protein;OTTHUMP00000213598;OTTHUMP00000213599;OTTHUMP00000213600;OTTHUMP00000213602;OTTHUMP00000213603;OTTHUMP00000213612;RhoGEF protein;exchange factor found in platelets and leukemic and neuronal tissues, XPLN;rho guanine nucleotide exchange factor 3 APPROVED protein-coding ENSG00000163947 683 12480 612115 REVIEWED 6480964 ARHGEF7-IT1 ARHGEF7 intronic transcript 1 (non-protein coding) 100874371 AL353704 miscrna 41408 6481062 ARHGEF9-IT1 ARHGEF9 intronic transcript 1 (non-protein coding) 100874355 AL391277 miscrna 41401 1312054 ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013] 2 2 q22 131390694 131521306 + 131674224 131804836 + 1580863;6480464 10947987;18653540;17002498;12598901;12477932;12168954;10873612;10470851;15572129;20936779;11756498;12376548;12787561;17588722;19525225;19628279;17599059;22543972;21788986;22745667 50649 A4QPB6;E7EV07;E9PEM0;H0Y451;H0YCT6;Q9NR80 AB029035;AB042199;ABBA01004568;ABBA01019376;ABBA01019377;ABBA01019378;AC009477;AC112786;AF249745;AL137289;AMYH01011085;BC036579;BC139742;CH471250;DQ424905;NM_015320;NM_032995 AAF79955;AAI39743;AAI60189;AAX93134;AAY24311;ABD83670;BAA83064;BAB11941;CAB70681;EAW51269;EAW51270;EAW51271;NP_056135;NP_127462;Q9NR80 Hs.469935 1705588;1774703;1849883;1849885;2106433;2142272;2170673 A001Y27;ARHGEF4_3818;G16357;G19788;RH47476;SHGC-83902;WI-10324 ASEF;ASEF1;GEF4;STM6 APC-stimulated guanine nucleotide exchange factor;APC-stimulated guanine nucleotide exchange factor 1;OTTHUMP00000162429;OTTHUMP00000203957;OTTHUMP00000203960;OTTHUMP00000232481;rho guanine nucleotide exchange factor 4 APPROVED protein-coding ENSG00000136002 684 05559 605216 REVIEWED 1603998 ARHGEF40 Rho guanine nucleotide exchange factor (GEF) 40 14 14 14 q11.2 1399096 1418597 + 20608367 20627876 + 21538527 21558036 + 6480464 16143467;14702039;12693554;12477932;16169070;21832049;21987572;21139048;21890473;21906983;21963094;23000965 55701 G3V3N2;G3V485;G3V5C1;Q8TER5 ABBA01061239;AK001219;AK024463;AK074057;AK126755;AL137291;AL161668;AMYH01005593;BC000084;BC009992;BC142692;BC144317;BC151212;BF339938;BQ447317;BX248768;CH471078;HY010070;HY277017;NM_001278529;NM_001278530;NM_018071;T97121 AAH00084;AAI42693;BAA91563;BAB15753;BAB84883;CAB70682;CAD66575;EAW66410;EAW66411;EAW66412;EAW66413;EAW66414;EAW66415;EAW66416;NP_001265458;NP_001265459;NP_060541;Q8TER5 Hs.35125 1335484;1647366;1767733;1850019;1853000;2121138;2191765 A002S30;D14S1070;G27462;MARC_7201-7202:996687628:3;RH70031;RH70501;WI-11857 FLJ10357;SOLO OTTHUMP00000245893;protein SOLO;rho guanine nucleotide exchange factor 40 APPROVED protein-coding ENSG00000165801 25516 13335 610018 VALIDATED 1343816 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008] X X q26.3 135575375 135691169 - 135747709 135863503 - 1580863;1599214;6480464;6907045;7240710 11017088 11937491;9582122;11564864;18029348;17405911;17081983;16964243;16897755;16320026;16094384;15772651;15761153;15649357;15611136;15489334;15324660;15302935;15242552;15144186;12935897;12499396;12477932;11337747;10896954;10523848;9783701;9659915;7584048;7584028;7584026;10559302;10428811;12006652;11756498;12376548;12787561;15688026;16374509;16983070;19672789;19911011;19918261;19969308;11864573;17620599;21900206;22118674;15306850;22505724 9459 B7Z3C7;Q15052;Q8N4Q3 ABBA01055930;ABBA01055931;ABBA01055932;ABBA01055933;ABBA01055934;ABBA01055935;ABBA01055936;ABBA01055937;ABBA01055938;ABBA01055939;ABBA01055940;ABBA01055941;ABBA01055942;ABBA01055943;ABBA01055944;AF207831;AK129909;AK291742;AK294929;AK295709;AK299861;AL135783;AL683813;AMYH01023050;BC033768;BC039856;BC043505;BE243825;BX537390;CH471150;D13631;D25304;NG_008873;NM_004840 AAG27169;AAH33768;AAH39856;AAH43505;BAA02796;BAA04985;BAF84431;BAH11929;BAH12163;BAH13153;CAD97632;EAW88460;EAW88461;NP_004831;Q15052 Hs.522795 1648712;1652152;1666578;1668687;1776976;1792622;2107851;2160941;5111488 ARHGEF6_7947;G10668;G18212;PMC155158P3;RH17397;RH25247;RH77692;SGC30410;SHGC-31468 COOL2;Cool-2;KIAA0006;MRX46;PIXA;alpha-PIX;alphaPIX OTTHUMP00000024134;OTTHUMP00000024135;OTTHUMP00000024136;PAK-interacting exchange factor alpha;PAK-interacting exchange factor, alpha;Rac/Cdc42 guanine exchange factor (GEF) 6;mental retardation, X-linked 46;rac/Cdc42 guanine nucleotide exchange factor 6;rho guanine nucleotide exchange factor 6 APPROVED protein-coding ENSG00000129675 685 02226 300267;300436 REVIEWED 1348513 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X X q11.1 63201689 63352277 - 62771573 62891718 - 62854848 63005426 - 6480464;7240710 18208356;15772651;15489334;15342556;15215304;12477932;11727829;10607391;10559246;9455477;11756498;12376548;12787561;16344560;19911011;20936779;20622020;22033413;21807943;21633362;20301437;22745667;22778260 23229 B1AMR3;B1AMR4;B4DGQ8;O43307 AB007884;ABBA01066807;ABBA01066808;ABBA01066809;ABBA01066810;ABBA01066811;ABBA01066812;ABBA01066813;ABBA01066814;ABBA01066815;ABBA01066816;ABBA01066817;ABBA01066818;ABBA01066819;ABBA01066820;ABBA01066821;ABBA01066822;ABBA01066823;AK289993;AK294721;AK295033;AK295178;AL355142;AL391277;AL451106;AL832116;AMYH01022492;BC018106;BC043497;BC046138;BC056892;BC117406;BP270451;CH471132;DB227223;NG_016975;NM_001173479;NM_001173480;NM_015185 AAI17407;ADR83209;BAA24854;BAF82682;BAG57869;BAG58088;BAG58186;EAX05416;EAX05417;EAX05418;NP_001166950;NP_001166951;NP_056000;O43307 Hs.54697 1682932;2125341;2162110 B324ZC5;DXS7000E;DXS7485 COLLYBISTIN;EIEE8;HPEM-2;KIAA0424;PEM-2;PEM2 OTTHUMP00000023424;OTTHUMP00000023425;OTTHUMP00000023427;PEM-2 homolog;hPEM-2 collybistin;rac/Cdc42 guanine nucleotide exchange factor 9;rho guanine nucleotide exchange factor 9 APPROVED protein-coding ENSG00000131089 14561 02337 300429;300607 REVIEWED 735723 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008] 7 7 7 q35 138733824 138751769 + 143683422 143708658 + 144052489 144077725 + 1580863;6480464 8134109;12006984;18444243;15951569;15681748;15489334;14702039;12853948;12477932;12107413;7656213;15778465;19913121;20628086;19713215;9314836;21525037;21832049;18029348;21906983;16964398;18067320;21988832;23359676 7984 C9J591;H0Y895;Q12774 AACC02000041;ABBA01033541;AC004534;AK090570;AK123596;AK160365;AMYH01018088;BC010046;BC011839;BC014555;BC136661;BF209445;BG831953;BI256663;BX649178;CD674013;CH471146;CR749203;NM_005435;U02082 AAA18010;AAC12958;AAH10046;AAH11839;AAH14555;AAI36662;ABM84438;ABM87484;BAD18708;BAG52188;CAH18061;EAL24413;EAW80095;EAW80096;NP_005426;Q12774 Hs.334;Hs.534621 1686206;1699346;2155322;2217026 ARHGEF5_3900;RH103260;RH80813;TIM1 DKFZp686N1969;GEF5;P60;TIM;TIM1 OTTHUMP00000212568;OTTHUMP00000212569;OTTHUMP00000212570;ephexin-3;guanine nucleotide regulatory protein TIM;oncogene TIM;p60 TIM;rho guanine nucleotide exchange factor 5;transforming immortalized mammary oncogene APPROVED protein-coding ENSG00000050327 13209 02932 600888 REVIEWED 1342507 ARID3C AT rich interactive domain 3C (BRIGHT-like) This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34552959 34559515 - 34611455 34618011 - 34621455 34628011 - 6480464 11959810;10838570;21955986 138715 A6NKF2 ABBA01065009;AL450283;AMYH01019338;CH471071;NM_001017363 A6NKF2;AAI48444;EAW58438;NP_001017363 Hs.534549 ARID domain-containing protein 3C;AT-rich interactive domain-containing protein 3C;OTTHUMP00000211880;at rich interactive domain 3c (bright- like) APPROVED protein-coding ENSG00000205143 21209 18550 REVIEWED 1321437 ARID1A AT rich interactive domain 1A (SWI-like) This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p35.3 26895109 26981188 + 27022522 27108601 + 1580863;6480464 22274316;22484628;15640446;10757798;12200431;15170388;9584200;11078522;18029348;19486893;17492758;17255939;17081983;16710414;16230384;15382044;14722072;14702039;12672490;12665591;12477932;11988099;11780067;11734557;11318604;11159203;11073988;9630625;9434167;8895581;8804307;8125298;11784859;11018012;9845365;19505873;21145461;21889920;22193641;20826764;16940996;20086098;20942669;14559996;16055720;16287714;18003620;18086889;18809673;19454010;19609353;19650111;14729568;17878164;20460684;21412130;23667531;17363140;20400511;11726552;22915242;22009941;21900401;22037554;22910690;22939958;22990118;20360068;22157930;22318606;22586326;20305087;21139048;21532573;21890473;23232571;19322201;22101352;21892209;22301703;23349767;23097632;22939629;23030592;22653341;20599239;23202128;22808142;22976498 8289 E9PQW6;H0Y488;H0YCU6;H0YEW5;Q96SM7;Q9BY33 AB001895;AB024075;AB210022;ABBA01034925;AF217506;AF219114;AF231056;AF265208;AF268913;AF521670;AK027442;AK027467;AK027655;AK074940;AK223275;AK308363;AL034380;AL512408;AMYH01000406;AMYH01000407;AMYH01000408;BC112895;CH471059;NG_029965;NM_006015;NM_139135 AAF67617;AAF75765;AAG17549;AAG33967;AAI12896;AAK54505;AAN03446;BAA23269;BAA83073;BAB55114;BAB55132;BAB55270;BAC11306;BAD96995;BAE06104;EAX07793;EAX07794;EAX07795;EAX07796;EAX07797;NP_006006;NP_624361;O14497 Hs.468972 1733078;1853307;1855057;2158238;2175441;2189439;2190943 D1S1417;D1S2243;HSC27A052;MARC_11851-11852:1029349291:1;MARC_6181-6182:992006984:1;SHGC-74444;SHGC-74487 B120;BAF250;BAF250a;BM029;C1orf4;ELD;MRD14;OSA1;P270;SMARCF1;hELD;hOSA1 ARID domain-containing protein 1A;AT-rich interactive domain-containing protein 1A;BRG1-associated factor 250;BRG1-associated factor 250a;OSA1 nuclear protein;OTTHUMP00000004117;OTTHUMP00000004118;OTTHUMP00000004119;SWI-like protein;SWI/SNF complex protein p270;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1;SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1;brain protein 120;chromatin remodeling factor p250;hELD;hOSA1;osa homolog 1 APPROVED protein-coding ENSG00000117713 11110 04319 603024;614607 REVIEWED 6481048 ARID4B-IT1 ARID4B intronic transcript 1 (non-protein coding) 100874336 AL133418 miscrna 41407 736143 ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 13 13 q34 110565783 110756079 + 111767624 111958081 + 1580863;6480464 10428811;10330411;9726964;9659915;9207241;8889548;8590280;8076819;16356860;12473661;16169070;14505571;16407834;18029348;19303398;18684957;18445079;18385518;18325335;18160719;17562871;17219408;17081983;16983070;16492808;16344560;16329988;15864311;15761153;15649357;15491607;15489334;15324660;15212761;15144186;14702039;14559906;14557270;12935897;12888526;12888525;12626503;12499396;12477932;12226077;12006652;11864573;11157752;10896954;21926430;11756498;12376548;12787561;15182672;15975580;16101281;16374509;16628223;19041750;19118189;19414484;19448619;19923322;20080968;20936779;20395446;21102462;21423176;21048939;22945935;23175185;16228008;12938929;21139048;21906983;21963094;17652093;22588125;15306850;22505724 8874 B1ALK7;B1ANY6;B7Z6D9;B7Z6G2;C9JAD7;C9JDI6;E7ENL8;E7EU80;E7EUY6;E9PDQ5;Q8N3M1 AA457036;AB075521;AB177848;AB177849;ABBA01026985;ABBA01026986;ABBA01026987;ABBA01026988;ABBA01026989;AJ844629;AJ844630;AJ844631;AJ844632;AJ844633;AK055476;AK093326;AK095058;AK295472;AK300157;AK300272;AK308897;AL139086;AL353704;AL390754;AL834228;AMYH01005381;BC033905;BC050521;BC060776;BM677392;BX648314;CF121796;CF144155;CH471085;D17055;D63476;DA216264;DB104833;DB180957;NM_001113511;NM_001113512;NM_001113513;NM_003899;NM_145735 AAH33905;AAH50521;AAH60776;ACE86956;ACE87647;ACE87830;ACT64348;BAA09763;BAD66826;BAD66827;BAE45764;BAH12080;BAH13225;BAH13248;CAD38906;CAH59748;CAH59949;EAX09142;EAX09143;EAX09144;EAX09145;EAX09146;EAX09147;EAX09148;EAX09149;NP_001106983;NP_001106984;NP_001106985;NP_003890;NP_663788;Q14155 Hs.508738 1685836;1711322;1718347;1737433;1852792;1856245;2106435;2161958;2173057;5020948;5022200 ARHGEF7_3917;D13S1000;D13S1183;G35510;L18426;RH122945;RH25365;RH66156;SGC33424;SHGC-30205;SHGC-84915 BETA-PIX;COOL-1;COOL1;DKFZp686C12170;DKFZp761K1021;KIAA0142;KIAA0412;Nbla10314;P50;P50BP;P85;P85COOL1;P85SPR;PAK3;PIXB OTTHUMP00000018715;OTTHUMP00000018717;OTTHUMP00000018718;OTTHUMP00000178803;OTTHUMP00000215110;OTTHUMP00000215156;OTTHUMP00000215158;SH3 domain-containing proline-rich protein;guanine nucleotide exchange factor 7;rho guanine nucleotide exchange factor 7 APPROVED protein-coding ENSG00000102606 15607 05688 605477 REVIEWED 1316702 ARID1B AT rich interactive domain 1B (SWI1-like) This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012] 6 6 q25.1 157140778 157572094 + 157099064 157531913 + 1302474;6480464 14633620 15231748;22405089;15170388;12200431;11734557;17255939;16952470;21145461;14982958;14702039;14574404;12672490;12665591;12477932;11988099;11078522;10574462;10078207;9804814;8896557;8889548;20602751;19336002;20978832;18029348;19176441;20379614;16230384;20086098;21294900;21448237;17000644;22939629;23202128;21118156;16751102;20360068;20305087;22158540;22426309;21139048;21890473;23000965;23419831;21801163;23660946;23275444 57492 G3XAA0;H0Y2R3;H0Y3S9;H0Y7H8;Q8NFD5 AB033061;ABBA01025550;ABBA01025551;ABBA01025552;ABBA01025553;ABBA01025554;ABBA01025555;ABBA01025556;ABBA01025557;AF253515;AF259792;AF468300;AF521671;AJ001216;AK000921;AK025945;AK074180;AK302356;AL049820;AL136091;AL162578;AL355297;AL591545;AMYH01016772;AMYH01016773;BC009543;BU733862;CB240584;CH471051;NG_032093;NM_017519;NM_020732;Y08266 AAG36928;AAL76077;AAN03447;AAN70985;BAA86549;BAA91426;BAB85006;BAG63682;CAA69592;EAW47678;EAW47679;EAW47680;EAW47681;EAW47682;EAW47683;EAW47684;EAW47685;NP_059989;NP_065783;Q8NFD5 Hs.291587;Hs.744461 1660313;1664702;1668650;1675301;1715025;1715129;1719177;1735600;1769301;1774066;1775780;1848004;1853110;1855242;2107853;2116724;2123645;2128012;2141557;2145868;2176795;2177019;2180639;2186379;5093336;5123356 A009L35;ARID1B_8076;D6S1163E;D6S1878;G32659;G34995;RH119516;RH120849;RH123307;RH16172;RH46034;RH46651;RH46824;RH46858;RH63714;RH68694;RH68798;RH68946;SGC34328;SGC36816;SGC36953;SHGC-30226;SHGC-35096;STS-D20286;STS-T31821;WI-16864 6A3-5;BAF250b;BRIGHT;DAN15;ELD/OSA1;KIAA1235;MRD12;OSA2;RP11-419L10.1;p250R ARID domain-containing protein 1B;AT-rich interactive domain-containing protein 1B;BRG1-associated factor 250b;BRG1-binding protein ELD/OSA1;ELD (eyelid)/OSA protein;OTTHUMP00000017476;OTTHUMP00000017479;OTTHUMP00000223605 APPROVED protein-coding ENSG00000049618 18040 10660 614556;614562 REVIEWED 1313245 ARID3A AT rich interactive domain 3A (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 19 19 p13.3 877037 923816 + 926037 972816 + 1580863;6480464 12477932;12193717;22302879;18029348;19214191;18583319;17386101;17081983;16738337;15203319;15057824;15017387;12692263;12136662;11812999;10838570;9780002;9722953;20455271;20680960;20379614;20548946;21248039;22469780;22010578;21832049;22990118;19471022;21693764;22172947;19322201 1820 K7EJ04;Q99856 ABBA01002609;ABBA01002610;ABBA01002611;ABBA01002612;ABBA01002613;ABBA01002614;AC005379;AC005391;AF039844;AF039850;AMYH01009214;AMYH01009215;AY152547;AY845638;BC007077;BC033163;BC060828;CH471139;NM_005224;U88047 AAC28499;AAC28918;AAC32888;AAC69994;AAH33163;AAH60828;AAN74028;AAW30734;ABZ92420;EAW69580;NP_005215;Q99856 Hs.501296 1791119 REU1926 BRIGHT;DRIL1;DRIL3;E2FBP1 ARID domain-containing 3A;ARID domain-containing protein 3A;AT rich interactive domain 3A (BRIGHT- like) protein;AT-rich interactive domain-containing protein 3A;B-cell regulator of IgH transcription;E2F-binding protein 1;at rich interactive domain 3a (bright- like);dead ringer-like 1;dead ringer-like protein 1 APPROVED protein-coding 3031 10343 603265 REVIEWED 1314897 ARID3B AT rich interactive domain 3B (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008] 15 15 15 q24 51781307 51840407 + 72620601 72677525 + 74833548 74890472 + 6480464 10446990;12477932;10838570;17643375;19430483;19881956;20379614;20211142;21832049;22860069;22751132;23667531;22307404;21044950;21139048 10620 H3BQ92;Q8IVW6 AB208830;ABBA01060495;ABBA01060496;AC100835;AF116846;AK298716;AK302034;AL137417;AMYH01006794;BC041792;BC045545;CH471136;DB455943;NM_006465 AAD09133;AAH41792;BAD92067;BAG60872;BAG63430;EAW99327;EAW99328;NP_006456;Q8IVW6 Hs.655532 1648294;1753989;1848891;2107855;2152584;7185146 ARID3B_7977;D15S1320;L17911;RH44782;SHGC-132023 BDP;DRIL2 ARID domain-containing protein 3B;AT rich interactive domain 3B (BRIGHT- like);AT-rich interactive domain-containing protein 3B;OTTHUMP00000180679;bright and dead ringer protein;bright-like protein APPROVED protein-coding ENSG00000179361 14350 09806 612457 REVIEWED 1316636 ARID4A AT rich interactive domain 4A (RBP1-like) The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008] 14 14 q23.1 57834975 57910204 + 58765222 58840451 + 1580863;6480464 16919237;12724404;1857421;8414517;11283269;18211900;16873370;16344560;15302935;14581478;12477932;10490602;10369074;10321733;9660940;8455946;15640446;16387653;19471022;17043311;22732186;21148318;22318606;21693764;22118674;22247551;23752268 5926 C9J1W3;C9JIF4;F8WAR5;H7C485;P29374;Q05CG0 ABBA01018256;ABBA01018257;AF086075;AK307520;AK307972;AL132989;AL139021;AMYH01005758;AMYH01005759;AMYH01005760;BC026230;BX279740;CH471061;DB218466;NM_002892;NM_023000;NM_023001;S57153;S57160;S57162;S66427 AAB25833;AAB25834;AAB25835;AAB28543;AAH26230;AAI72363;EAW80727;EAW80728;EAW80729;EAW80730;EAW80731;EAW80732;NP_002883;NP_075376;NP_075377;P29374 Hs.161000 1754449;1854745;2127283;2130027;2167839;2177449;2217030;5094000;5117014;5120121 A010A22;ARID4A_3852;AW466107;D14S1330;G33047;G35710;GDB:196872;SHGC-132583;SHGC-36294;SHGC-36874 RBBP-1;RBBP1;RBP-1;RBP1 ARID domain-containing protein 4A;AT-rich interactive domain-containing protein 4A;OTTHUMP00000179023;OTTHUMP00000179024;OTTHUMP00000197517;retinoblastoma binding protein 1;retinoblastoma-binding protein 1 APPROVED protein-coding ENSG00000032219 9885 01575 180201 REVIEWED 1322383 ARID2 AT rich interactive domain 2 (ARID, RFX-like) ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008] 12 12 12 q12 44920557 45099159 + 44409887 44588086 + 46123620 46301819 + 6480464 15985610;16782067;16303743;15922553;15640446;15489334;15159402;15146197;15060132;14702039;12672490;12477932;10997877;19505873;20936779;17643375;19668339;18809673;21822264;8895581;19596686;20130577;20360068;20305087;21139048;21549307;22095441;21890473;23047306;20599239;22140357;22505724 196528 F8VWP4;F8W108;F8WCU9;Q9HCL5 AB046777;ABBA01031447;ABBA01031448;ABBA01031449;ABBA01031450;ABBA01031451;ABBA01031452;AC008124;AC009464;AC009777;AK027617;AK027718;AK055181;AK075385;AK127872;AL832200;AMYH01004426;AY727870;BC018661;BC038726;BC064625;BC090062;BX537879;BX648152;BX649133;CH471111;CN419675;CR749833;DQ096628;NM_152641 AAH18661;AAH38726;AAH90062;AAI56212;AAI72461;AAU20329;AAZ74794;BAB13383;BAB55236;BAB55320;BAC11585;BAC87171;CAD91164;CAD97878;CAH18689;EAW57888;EAW57889;EAW57890;EAW57891;NP_689854;Q68CP9 Hs.317304 1661696;1663646;1675171;1705768;1712420;1712422;1712426;1712458;1769663;2174785;2191427;2217028;5094016 A010A40;ARID2_3730;G33057;G54245;G54246;G54248;G54266;MARC_21821-21822:1025098890:1;RH69395;SHGC-78670;WI-13379;WI-14321;WI-16568 BAF200;DKFZp686G052;DKFZp779P0222;FLJ30619;KIAA1557;p200 ARID domain-containing protein 2;AT-rich interactive domain-containing protein 2;BRG1-associated factor 200;OTTHUMP00000197509;OTTHUMP00000197510;zinc finger protein with activation potential;zipzap;zipzap/p200 APPROVED protein-coding ENSG00000189079 18037 16505 609539 VALIDATED 2289744 ARIH2P1 ariadne homolog 2 pseudogene 1 18 18 18 q12.1 23042743 23044624 + 24485693 24487175 + 26231494 26233375 + 390844 ABBA01022547;AC027141;AMYH01008910;NG_009482 1652468;2164136;5019649 A006E46;G32336;SGC35142 ARIH2P APPROVED pseudo 31732 INFERRED 2298738 ARIH2OS ariadne homolog 2 opposite strand 3 3 3 p21.31 48910982 48912579 - 48930225 48931822 - 48955221 48956818 - 6480464 16344560;14702039 646450 Q8N7S6 ABBA01024624;AC134028;AK097724;AMYH01013154;DA461567;NM_001123040 BAC05151;NP_001116512;Q8N7S6 Hs.720727 5014051;5021872;5022651 D11S2921;D8S2278;sY3084 C3orf71 OTTHUMP00000210387;ariadne-2 homolog opposite strand protein;hypothetical protein LOC646450;uncharacterized protein ARIH2OS;uncharacterized protein C3orf71 APPROVED protein-coding ENSG00000221883 34425 PROVISIONAL 1322287 ARID5A AT rich interactive domain 5A (MRF1-like) Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008] 2 2 2 q11.2 91643676 91659583 + 96566191 96582098 + 97202464 97218371 + 6480464 15640446;18029348;16713569;12477932;8889548;8649988;12975309;21890473;21184583;15941852;22797925 10865 C9J1Q0;F6Q9D3;Q03989 ABBA01036588;ABBA01036589;AC013270;AK300173;AK304566;AK307768;AMYH01010726;AY358167;BC032488;BC047390;BC067301;BQ073595;BU734273;BX648918;CH471207;M62324;NM_212481 AAA36325;AAI67773;AAQ88534;BAG61953;BAH14217;EAW71359;EAW71360;EAW71361;EAW71362;EAW71363;EAW71364;EAW71365;EAW71366;NP_997646;Q03989 Hs.920 1773888;2135741 D2S2868;G09483 MRF-1;MRF1;RP11-363D14 ARID domain-containing protein 5A;AT-rich interactive domain-containing protein 5A;OTTHUMP00000207481;OTTHUMP00000207483;RFVG5814;modulator recognition factor 1;modulator recognition factor I APPROVED protein-coding ENSG00000196843 17361 12481 611583 VALIDATED 1604359 ARID4B AT rich interactive domain 4B (RBP1-like) This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q42.1-q43 208572869 208734285 - 233396833 233558155 - 235330210 235491532 - 6480464 17081983;16710414;15489334;15302935;15247124;14702039;12724404;12477932;12446740;11790298;11481388;10737800;22693453;16387653;20347265;20379614;20936779;17043311;18193082;19471022;21139048;21693764 51742 H0Y7Y8;H7C5R6;Q9P2W4 AB210032;ABBA01033120;ABBA01033121;ABBA01033122;ABBA01033123;ABBA01033124;ABBA01033125;ABBA01033126;AF083249;AF208045;AF214114;AF227899;AI356277;AI431949;AK023144;AK057552;AL133418;AL133594;AL356781;AL391994;AMYH01001842;AMYH01001843;AMYH01001844;AY220790;BC017800;BC048959;BC062536;BC104632;BC130418;BC143719;BF899710;BX648820;CH471098;NG_029484;NM_001206794;NM_016374;NM_031371 AAD41239;AAF23433;AAF28341;AAF36964;AAH17800;AAH48959;AAH62536;AAI04633;AAI30419;AAO63590;BAB14428;BAE06114;CAB63731;CAI46047;EAW70008;EAW70009;EAW70010;EAW70011;EAW70012;EAW70013;EAW70014;EAW70015;NP_001193723;NP_057458;NP_112739;Q4LE39 Hs.575782 1339695;1779099;1848810;2176053;5021872;5022200;5022651;5037552 D11S2921;D1S2649;D1S3341;D8S2279;HSC1CA092;L18426;SHGC-76545;sY3084 BCAA;BRCAA1;DKFZp313M2420;MGC163290;RBBP1L1;RBP1L1;SAP180 180 kDa Sin3-associated polypeptide;ARID domain-containing protein 4B;AT-rich interactive domain-containing protein 4B;OTTHUMP00000037596;OTTHUMP00000037599;OTTHUMP00000037601;OTTHUMP00000197527;RBP1-like protein;Rb-binding protein homolog;SIN3A-associated protein 180;breast cancer-associated antigen 1;breast cancer-associated antigen BRCAA1;breast carcinoma-associated antigen;histone deacetylase complex subunit SAP180;retinoblastoma binding protein 1-like 1;retinoblastoma-binding protein 1-like 1;sin3-associated polypeptide p180 APPROVED protein-coding ENSG00000054267 15550 10661 609696 REVIEWED 1317649 ARL11 ADP-ribosylation factor-like 11 This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010] 13 13 q14.2 49100625 49105732 + 50202435 50208008 + 737633;1580863;6480464 12477932 18337727;17699778;17449901;17391501;16646072;16581122;16570116;16488076;16353159;16189514;15843669;15489334;15057823;14702039;18375053;19060904;19509554;20067102;20358297;22028916;21890473;23000965;23412934 115761 Q969Q4 ABBA01051020;AF441378;AK091249;AL135901;AMYH01005109;BC013150;CH471075;NG_021342;NM_138450 AAH13150;AAP19650;BAC03621;EAX08831;NP_612459;Q969Q4 Hs.558599 5022200;5022578 D1S1423;L18426 ARLTS1;FLJ33930;MGC17429 ADP-ribosylation factor-like protein 11;ADP-ribosylation factor-like tumor suppressor protein 1;OTTHUMP00000018420 APPROVED protein-coding ENSG00000152213 24046 12484 609351 REVIEWED 1317726 ARIH1 ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) 15 15 15 q24 49652768 49763614 + 70553721 70662877 + 72766667 72878896 + 1580863;6480464 21145461;10521492;15489334;15236971;14623119;12477932;11278816;11124703;11124525;10926929;10880484;12234920;19615732;21532592;15963499;23383273;22863883;23022380;18781797;21987572;21139048;21890473;21906983;21963094;21590270;22037423;18654987;22505724;23059369 25820 H3BNB9;H3BSK4;H3BUS0;Q9Y4X5 AB014774;AB209432;ABBA01038725;ABBA01038726;ABBA01038727;AC079322;AC100827;AF072832;AJ009771;AJ130976;AJ243190;AK000336;AK312715;AL117650;AMYH01006762;BC051877;BX641117;CH471082;CQ834334;NM_005744 AAD28088;AAH51877;BAB19786;BAD92669;BAG35590;CAA08817;CAA10274;CAB45870;CAH05382;EAW77907;EAW77908;NP_005735;Q9Y4X5 Hs.268787 1646083;1677864;1739275;1795398;1850906;1856906;2138783;2148216 A004P07;ARIH1_702;D2S1933E;RH47216;RH77925;RH93460;SHGC-34211;SHGC-36787 ARI;DKFZp686O13120;FLJ20329;FLJ93118;HARI;HHARI;UBCH7BP ARI-1;E3 ubiquitin-protein ligase ARIH1;H7-AP2;MOP-6;OTTHUMP00000164679;ariadne, Drosophila, homolog of;monocyte protein 6;protein ariadne-1 homolog;ubcH7-binding protein;ubcM4-interacting protein;ubiquitin-conjugating enzyme E2-binding protein 1 protein-coding ENSG00000166233 689 05730 605624 VALIDATED 1323345 ARID5B AT rich interactive domain 5B (MRF1-like) This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 10 10 q21.2 63331449 63526709 + 63661013 63856707 + 6480464 21145461;18612189;17081983;15640446;15489334;15164054;14702039;12477932;11483573;11478881;10329386;9808040;16344560;19430483;19684603;19684604;20042726;20054350;20460642;22660188;17000644;23608171;11959810;17407261;21532585;21889209;21890642;23118423;21693764;21906983;22446963;16009940;19322201;22291082;21963094;23016962;22922568;23022100;23273568;23291589;23382691;23512250;23667531;23752268 84159 Q9H786 ABBA01019481;ABBA01019482;ABBA01019483;AC067742;AI149153;AK024803;AK123882;AK296921;AL049471;AL671972;AL731669;AMYH01002771;AMYH01002772;BC015120;BC017404;BC036831;BC056680;BC066345;BC107800;BG615173;BX352258;BX472565;BX537690;BX641020;BX648835;CH471083;DB014195;M73837;NG_030027;NM_001244638;NM_032199 AAA59870;AAH15120;AAH36831;AAH66345;AAI07801;AAI52737;AAI56571;BAB15012;BAG59475;CAD97814;CAE46013;EAW54226;EAW54227;EAW54228;NP_001231567;NP_115575;Q14865 Hs.535297 1338119;1656811;1668246;1695524;1726899;1752653;1771234;1771831;1853168;2109059;2117448;2133017 A003N19;AFM234WC5;ARID5B_3079;B353XB9;D10S609;G62692;RH47625;RH48313;SHGC-106526;SHGC-16154;SHGC-68542;STS-AA009652 DESRT;FLJ21150;FLJ41888;MRF-2;MRF2;RP11-341A19.1 ARID domain-containing protein 5B;AT-rich interactive domain-containing protein 5B;MRF-2;MRF1-like protein;OTTHUMP00000019668;modulator recognition factor 2 (MRF2) APPROVED protein-coding ENSG00000150347 17362 608538 REVIEWED 1344087 ARL10 ADP-ribosylation factor-like 10 5 5 5 q35.2 172701905 172709953 - 175725108 175733109 + 175792502 175800503 + 1580863;6480464 15033445;14702039;12477932;21890473 285598 H0Y8L6;H0Y9R6;Q6PCE2;Q8N8L6 ABBA01033501;AC138956;AMYH01015859;BC059361;CH471195;DR001833;NM_173664 AAH59361;EAW85086;NP_775935;Q8N8L6 Hs.424552 1688424 RH92676 ARL10A;FLJ39249 ADP-ribosylation factor-like membrane-associated protein;ADP-ribosylation factor-like protein 10;OTTHUMP00000161237 protein-coding 22042 12482 VALIDATED 6771193 ARL14EPL ADP-ribosylation factor-like 14 effector protein-like 5 q23.1 115387163 115394827 + 10737800 644100 P0DKL9 ABBA01069028;AC034236;AMYH01015563;BF993117;DN930361;DN930362;DT932734;NM_001195581 NP_001182510;P0DKL9 Hs.730043;Hs.98288 1780908 bac53227S ARL14 effector protein-like;uncharacterized protein LOC644100 protein-coding 44201 VALIDATED 1343034 ARL13A ADP-ribosylation factor-like 13A X X X q22.1 100743491 100764612 + 100111356 100132476 + 100224697 100245820 + 6480464 12477932;23128241 392509 H0YH34;J3KPB3;Q5H913 ABBA01044923;ABBA01064108;ABBA01064109;ABBA01064110;AK301813;AMYH01022723;AMYH01022724;AMYH01022725;AW118931;BC140808;BC144603;CD300373;CH471115;DB727708;DC426731;DY655154;NM_001012990;NM_001162490;NM_001162491;NR_103708;NR_103709;Z97985 AAI40809;AAI44604;BAG63262;EAX02829;NP_001013008;NP_001155962;NP_001155963;Q5H913 Hs.147237 2125106 DXS7529 ARL13;dJ341D10.2 ADP-ribosylation factor-like 13;ADP-ribosylation factor-like protein 13A;OTTHUMP00000023662;OTTHUMP00000226635 protein-coding ENSG00000174225 31709 18526 VALIDATED 1314113 ARIH2 ariadne homolog 2 (Drosophila) 3 3 3 p21 48912042 48977617 + 48931285 48997978 + 48956281 49022974 + 1580863;6480464 22037423;22819825;19340006;10422847;17646546;16189514;16169070;16118314;15489334;15146197;14702039;12477932;10931946;10880484;8125298;12234920;21454682;19549727;22863883;23022380;17043677;15545318;20639865;21139048;21890473;21906983;22940738;23383273;22493164;22053931 10425 C9JAU2;C9JBC5;C9JCL4;C9JZ71;F8WCS4;O95376;Q6IBL8 AB208857;ABBA01024621;ABBA01024622;ABBA01024623;ABBA01024624;AC134028;AC137630;AF099149;AF099150;AF099151;AF099152;AF099153;AF113677;AF183427;AJ130978;AK001800;AK091240;AK223550;AK307694;AK313434;AL110187;AL162034;AMYH01013154;BC000422;CH471055;CN399800;CR456785;NM_006321 AAC82469;AAG09696;AAH00422;ABM85944;BAD92094;BAD97270;BAG36225;BAG50977;CAA10276;CAG33066;EAW64930;EAW64931;EAW64932;EAW64933;NP_006312;O95376 Hs.633601 1646592;1646594;1650578;1652468;1676454;1687189;1697632;1740139;1855306;2149781;2164136;2186232;5019649 A006E46;A006J35;D3S3505;D3S3893;G20880;G32336;RH102329;RH16356;RH80209;RH80613;SGC35142;SHGC-76940;WI-11545 ARI2;FLJ10938;FLJ33921;TRIAD1 ARI-2;E3 ubiquitin-protein ligase ARIH2;OTTHUMP00000164828;OTTHUMP00000210388;all-trans retinoic acid inducible RING finger;protein ariadne-2 homolog protein-coding ENSG00000177479 690 09286 605615 PROVISIONAL 732961 ARL1 ADP-ribosylation factor-like 1 The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. [provided by RefSeq, Jul 2008] 12 12 q23.2 100311045 100325703 - 101786903 101801572 - 1580863;6480464 9624189;17353931;17127620;16381901;15489336;15489334;11230166;11076863;10318838;7814376;15269279;14702039;12972563;12477932;11303027;11256614;19224922;19703403;21239483;17314511;17342744;14580338;8798635;21139048;21890473;21906983;11792819;21145461;22679020;23345439 400 B4DWW1;B4DZG7;F8VP63;F8VP99;F8VYN9;F8W1Z8;P40616 ABBA01053244;AC063948;AF493887;AK001489;AK299062;AK301701;AK302911;AK311793;AL701988;AMYH01004702;BC007000;BT007260;BX537387;CD686919;CH471054;CK822904;L28997;NM_001177 AAC37567;AAH07000;AAM12601;AAP35924;ABM83974;ABM87294;BAG34736;BAG61128;BAG63173;BAG64079;CAD97629;CAL38716;EAW97657;EAW97658;EAW97659;EAW97660;NP_001168;P40616 Hs.372616;Hs.732900 1680984;1683811;2119862;2176880 D12S1419;RH93493;RH98475;STS-N98729 ARFL1 ADP-ribosylation factor-like protein 1;OTTHUMP00000243366;OTTHUMP00000243367;OTTHUMP00000243368;OTTHUMP00000243370;OTTHUMP00000243371 APPROVED protein-coding ENSG00000120805 692 04574 603425 REVIEWED 1349356 ARL13B ADP-ribosylation factor-like 13B This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 3 q11.1 92082477 92158408 + 95181672 95256813 + 93698983 93774522 + 6480464;7240710 18674751;18554500;15489334;15314642;12477932;20231383;21068128;23153492;21139048;21906983;20301500;23000965;23128241;23150559;23223633 200894 B4DRI8;C9J887;F8W837;F8WAY0;F8WBR2;Q3SXY8 AA775026;ABBA01026969;ABBA01026970;ABBA01026971;AC117474;AC130896;AK296994;AK299284;AL713789;AMYH01013339;BC015439;BC031093;BC062993;BC073842;BC094725;BC104033;BC104034;BC104035;BC104036;BI821381;CH471052;CR936753;CR936756;CR936763;NG_017076;NM_001174150;NM_001174151;NM_144996;NM_182896;NR_033427 AAH94725;AAI04036;AAI04037;ACE86811;ACE87498;ACE87851;ACT64375;BAG59533;BAG61300;CAD28544;EAW79897;EAW79898;EAW79899;EAW79900;EAW79901;NP_001167621;NP_001167622;NP_659433;NP_878899;Q3SXY8 Hs.533086 1682888 RH48040 ARL2L1;DKFZp686E2075;DKFZp686L2472;DKFZp686M2074;DKFZp761H079;JBTS8;MGC120611;MGC120612 ADP-ribosylation factor-like protein 13B;ARL2-like protein 1;OTTHUMP00000213855;OTTHUMP00000213858;OTTHUMP00000213859 APPROVED protein-coding ENSG00000169379 25419 12334 608922;612291 REVIEWED 1349632 ARL14 ADP-ribosylation factor-like 14 3 3 3 q25.33 158816951 158818239 + 161877641 161878930 + 160394948 160396236 + 6480464 16341674;15761153;15489334;15367757;14702039;12477932;19458352 80117 Q8N4G2 ABBA01058793;AC069224;AK026248;AMYH01013616;BC034354;BM760777;CH471052;NM_025047 AAH34354;ADZ16082;BAB15411;EAW78629;NP_079323;Q8N4G2 Hs.287702 ARF7;FLJ22595 ADP-ribosylation factor-like protein 14;OTTHUMP00000213879 protein-coding ENSG00000179674 22974 07998 614439 VALIDATED 1602487 ARL17A ADP-ribosylation factor-like 17A 17 17 17 q21.31 57320187 57332531 + 41949384 42012352 - 44594068 44657088 - 6480464 15489334;12477932;22505724 51326 I3L1V5;I3L2E4;Q8IVW1 AB209344;ABBA01000577;ABBA01003835;ABBA01041111;AC138645;AC139677;AF208864;AF493886;AK289590;AK315857;AMYH01008444;BC000924;BC020869;BC030570;BC041803;BC071681;BX537922;BX647266;NM_001113738;NM_016632 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;NP_001107210;NP_057716 Hs.559259;Hs.720602;Hs.733127 1743291;1774779;1851494;2151297;5127432 D17S1689;GDB:314381;SHGC-57505;SHGC-58364;STS-AA029927 ARF1P2;ARL17P1 ADP-ribosylation factor 1 pseudogene 2;ADP-ribosylation factor 7;ADP-ribosylation factor-like 17 pseudogene 1;ADP-ribosylation factor-like 17-like;OTTHUMP00000163711 APPROVED protein-coding ENSG00000185829 24096 17424 VALIDATED 1323226 ARL15 ADP-ribosylation factor-like 15 5 5 5 p15.2 50134233 50560002 - 53216371 53642160 - 53180614 53606403 - 737633;6480464 12477932 16169070;15489334;14702039;20011104;20379614;17207965;20950786;21139048;21890473;21906983;20686565;22479202 54622 Q9NXU5;R4GN67 ABBA01015723;ABBA01015724;ABBA01015725;ABBA01015726;AC008873;AC008935;AC016601;AC024571;AC025175;AC034246;AK000058;AK290886;AK311482;AMYH01015086;BC026093;CH471123;CR457225;NM_019087 AAH26093;ADQ32165;BAA90915;BAF83575;CAG33506;EAW54889;EAW54890;EAW54891;NP_061960;Q9NXU5 Hs.659125 1336180;1337541;1341059;1650750;1650800;1655640;1660507;1663491;1670393;1677346;1686324;1691032;1706176;1719451;1721137;1726861;1729579;1752441;2109055;2113784;2122585;2123881;2163144;7186735;7187457 A101YE9;AB055363;AFM254wf1;ARFRP2_9807;D5S1508;D5S1968;D5S1969;D5S2423;D5S260;D5S453E;D5S628;G59403;G62673;L28283;L28354;RH123444;RH46502;RH75399;SGC31091;SHGC-106389;SHGC-34222;SHGC-80614;STS-N22913 ARFRP2;FLJ20051 ADP-ribosylation factor related protein 2;ADP-ribosylation factor-like protein 15;ADP-ribosylation factor-related protein 2;ARF-related protein 2;OTTHUMP00000230684;OTTHUMP00000230685 protein-coding ENSG00000185305 25945 12471 VALIDATED 1602076 ARL14EP ADP-ribosylation factor-like 14 effector protein 11 11 11 p14.1 30491042 30505559 + 30301225 30315741 + 30344649 30359165 + 6480464 15489334;14702039;12477932;17207965;21987572;21139048;21890473;21906983;21458045 120534 E9PRK7;Q8N8R7 ABBA01060937;AK096287;AL356440;AMYH01003469;BC047775;BX647617;CH471064;CS300570;NM_152316 AAH47775;ADQ33112;BAC04747;CAI46092;CAK32234;EAW68259;NP_689529;Q8N8R7 Hs.502208 1669315;1685664;1713381;2143511;5020092 RH119546;RH40032;SHGC-132872;SHGC-53867;WI-17439 ARF7EP;C11orf46;FLJ38968;dJ299F11.1 ARF7 effector protein;ARL14 effector protein;OTTHUMP00000232037;hypothetical protein LOC120534;uncharacterized protein C11orf46 APPROVED protein-coding 26798 08796 612295 PROVISIONAL 1349460 ARL2BPP1 ADP-ribosylation factor-like 2 binding protein pseudogene 1 18 q23 74415819 74416210 - 399666 ABBA01015283;AC110743;AMYH01009112;NG_028708 HsT2883 pseudo 17742 INFERRED 1601700 ARL16 ADP-ribosylation factor-like 16 17 17 17 q25.3 76293146 76295876 - 77258629 77261359 - 79648224 79650954 - 6480464 15489334;14702039;12477932;21233210;21906983 339231 I3L196;I3L1P0;I3L4Z1;I3L4Z7;Q0P5N6 ABBA01032159;AC139530;AK095847;AK303526;AK304718;AMYH01008718;BC029633;BC042380;BC063687;BC105076;BC105078;NM_001040025 AAI05077;AAI05079;ADR82863;BAG64554;BAG65482;NP_001035114;Q0P5N6 Hs.658789 5037552 D8S2279 ADP-ribosylation factor-like protein 16 protein-coding ENSG00000214087 27902 VALIDATED 6480914 ARL2BPP10 ADP-ribosylation factor-like 2 binding protein pseudogene 10 22 18585223 18586415 - 100874449 ABBA01001421;AC016027;AMYH01012440;AMYH01012441;NG_032307 pseudo 39454 INFERRED 1346532 ARL2BPP2 ADP-ribosylation factor-like 2 binding protein pseudogene 2 12 12 12 q13.13 52803394 52803905 + 51443433 51443944 + 53157166 53157677 + 399667;643898 ABBA01008295;AC068988;AMYH01004474;NG_030318 ARL2BPL;bcm1040 ADP-ribosylation factor-like 2 binding protein pseudogene 2 APPROVED pseudo 31036 INFERRED 4891571 ARL2BPP3 ADP-ribosylation factor-like 2 binding protein pseudogene 3 13 13 13 q13.3 18435830 18436477 + 36266621 36267187 + 37368621 37369187 + 646879 A8MYR8 ABBA01021354;AL159973;AMYH01005039;CH471075;NG_022943 A8MYR8;EAX08569 1737323;1755361;1778925 D13S927;SHGC-142244;WI-22737 pseudo 39447 INFERRED 4891560 ARL2BPP4 ADP-ribosylation factor-like 2 binding protein pseudogene 4 5 5 5 q23.3 125995443 125995972 + 129892951 129893480 + 129865094 129865786 + 17903298 100130265 ABBA01068841;AC005741;AMYH01015608;NG_028952 pseudo 39448 INFERRED 6481008 ARL2BPP5 ADP-ribosylation factor-like 2 binding protein pseudogene 5 5 162188839 162189319 + 100874420 ABBA01044193;AC010602;AMYH01015767;NG_032305 pseudo 39449 INFERRED 6481011 ARL2BPP6 ADP-ribosylation factor-like 2 binding protein pseudogene 6 5 174717734 174718255 + 100874421 ABBA01043996;AC020903;AMYH01015836;NG_032306 pseudo 39450 INFERRED 4891557 ARL2BPP7 ADP-ribosylation factor-like 2 binding protein pseudogene 7 9 9 9 q31.1 75321286 75322432 - 103857355 103857853 - 104816145 104818108 - 100131629 ABBA01042868;AL596454;AMYH01021580;NG_028958 pseudo 39451 INFERRED 4891556 ARL2BPP8 ADP-ribosylation factor-like 2 binding protein pseudogene 8 17 17 17 q22 49293770 49294257 - 50186522 50187027 - 52830236 52832038 - 100131784 ABBA01041283;AC005951;AMYH01008487;NG_028975 pseudo 39452 INFERRED 4891555 ARL2BPP9 ADP-ribosylation factor-like 2 binding protein pseudogene 9 17 17 77125237 77126015 - 80534490 80535268 - 100421675 ABBA01019689;AC124283;AMYH01008736;NG_026204 pseudo 39453 INFERRED 1605146 ARL17B ADP-ribosylation factor-like 17B 17 17 q21.31 41784502 41794826 - 44376913 44439134 - 6480464 15489334;12477932;11181995;14702039;19608861;22505724 100506084 I3L1A0;I3L1V5;I3L2E4;I3L3L1;Q8IVW1 AB209344;ABBA01003822;AC005829;AC139026;AC217777;AF208864;AF493886;AK289590;AK315857;AMYH01008443;BC000924;BC020869;BC030570;BC041803;BC071681;BX537922;BX647266;CH878255;NM_001039083;NM_001103154 AAF64278;AAH00924;AAH30570;AAH41803;AAM12600;BAD92581;BAF82279;BAF98748;EAW50328;EAW50329;NP_001034172;NP_001096624;Q8IVW1 Hs.559259;Hs.720602;Hs.733127 2151297;5022576;5127432 D1S1361;SHGC-58364;STS-AA029927 ARL17;ARL17A;FLJ76374;FLJ79506;MGC45095 ADP-ribosylation factor 7;ADP-ribosylation factor-like 17;ADP-ribosylation factor-like protein 17 APPROVED protein-coding ENSG00000228696 32387 VALIDATED 1344137 ARL2BP ADP-ribosylation factor-like 2 binding protein ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008] 16 16 16 q13 41778726 41787233 + 55836539 55845046 + 57279038 57287545 + 1580863;6480464 10488091;19368893;18981177;12477932;11809823;11303027;20936779;16525022;18234692;11847227;21665939;21833473;21901094;22532868;21139048;19322201;22745590 23568 H3BM52;H3BU49;Q9Y2Y0 ABBA01025265;ABBA01025266;AC009090;AF126062;AK075050;AK298758;AK311018;AMYH01007697;BC003087;BC094878;BF590083;CH471092;CQ783045;NM_012106 AAD20633;AAH03087;AAH94878;BAG52057;BAG60900;CAF86252;EAW82913;EAW82914;NP_036238;Q9Y2Y0 Hs.632873 1647702;1754769;1767550 G06868;SHGC-33383;STS-W69175 BART;BART1 ADP-ribosylation factor-like protein 2-binding protein;ARF-like 2-binding protein;Arf-like 2 binding protein BART1;OTTHUMP00000164663;binder of ARF2 protein 1;binder of Arl Two;binder of Arl2 APPROVED protein-coding ENSG00000102931 17146 09808 REVIEWED 1605276 ARL4P2 ADP-ribosylation factor-like 4 pseudogene 2 4 4 4 p14 41230854 41232002 + 40482564 40483910 + 40787905 40789053 + 152709 ABBA01014257;AC131953;AMYH01014129;NG_005394 pseudo 32379 INFERRED 1354501 ARL4P ADP-ribosylation factor-like 4 pseudogene 10 10 q21.2 55709627 55710792 + 62443989 62445154 + 387684 ABBA01019464;AC022390;AMYH01002767;NG_011408;NG_029917 2106437 ARL4B__4370 ARL4B pseudo 17741 INFERRED 6769531 ARL5AP1 ADP-ribosylation factor-like 5A pseudogene 1 X q24 118317445 118321005 - 641382 ABBA01036710;AL441887;AMYH01022880;NG_005344 RP11-320L24.1-001 pseudo 43933 INFERRED 6769532 ARL5AP2 ADP-ribosylation factor-like 5A pseudogene 2 10 q24.2 100770912 100773979 - 641380 ABBA01063257;AL590036;AMYH01002987;NG_005342;NG_023416 RP11-379D21.2-001 pseudo 43937 INFERRED 6769533 ARL5AP4 ADP-ribosylation factor-like 5A pseudogene 4 22 q11.2 25081822 25089151 + 641379 ABBA01055149;AMYH01012670;AP000357;AP000358;NG_005341 pseudo 43936 INFERRED 735885 ARL2 ADP-ribosylation factor-like 2 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008] 11 11 q13 64538162 64546232 + 64781585 64789657 + 1580863;6480464 10831612;18818514;18588884;17704193;17188265;16525022;15489334;12912990;12527357;12477932;12015966;11980706;11809823;9253601;8415637;8125298;16189514;19368893;20740604;18234692;15146197;21199864;22863883;22939629;18781797;20360068;20972266;21139048;21890473;21906983;22002721;19471022;22505724;11847227 402 P36404;Q53YD8 ABBA01024138;AF493888;AI076058;AI631767;AK223502;AK294580;AMYH01003716;AP000436;BC002530;BG706294;BT006674;CH471076;CN338497;L13687;NM_001199745;NM_001667 AAC37606;AAH02530;AAM12602;AAP35320;ACE87082;ACE87762;BAD97222;BAG57771;EAW74332;EAW74333;NP_001186674;NP_001658;P36404 Hs.502836 1338740;1782486;1857755;2157053;5021872;5022651;5037552 D11S2921;D11S4192;D11S4597;D8S2279;G33095;SHGC-172584;sY3084 ARFL2 ADP-ribosylation factor-like protein 2;OTTHUMP00000230835;OTTHUMP00000230836;OTTHUMP00000230838 APPROVED protein-coding ENSG00000213465 693 11869 601175 VALIDATED 7207694 ARL5B-AS1 ARL5B antisense RNA 1 10 18941162 18948214 - 101060107 ABBA01034535;AL512641;AMYH01002156;XR_171056;XR_171841;XR_172423 miscrna 44882 MODEL 1604399 ARL4A ADP-ribosylation factor-like 4A ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p21.3 12704156 12708234 + 12693006 12697084 + 12726452 12730559 + 6480464 10980193;18240926;17398095;15489334;12690205;12477932;10462049;7829101;10756096;21930703;21906983;22159419 10124 C9J7Q9;P40617 AACC02000009;ABBA01056578;AC011891;AF493890;AK313233;AMYH01017075;AU076407;AW022162;AW079064;BC001111;BC003027;BC039123;BI828864;BM550177;BQ948724;BU786406;CD049640;CH236948;CH471073;DB451189;DB472672;NM_001037164;NM_001195396;NM_005738;NM_212460;U73960 AAB39713;AAH01111;AAH03027;AAM12604;BAG36044;EAL24295;EAW93650;EAW93651;EAW93652;NP_001032241;NP_001182325;NP_005729;NP_997625;P40617 Hs.245540 1645062;5113627 RH48668;RH80713 ARL4 ADP-ribosylation factor-like 4;ADP-ribosylation factor-like protein 4A;OTTHUMP00000155200;OTTHUMP00000155201;OTTHUMP00000201574;OTTHUMP00000201575;OTTHUMP00000201576;OTTHUMP00000201577 APPROVED protein-coding ENSG00000122644 695 11987 604786 REVIEWED 1345856 ARL4C ADP-ribosylation factor-like 4C ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 229122450 229126462 - 235066424 235070432 - 235401685 235405693 - 1580863;6480464 10462049;17398095;16713569;15489334;15147902;12477932;21187453;18029348;20686608;19409876;21832049;21906983 10123 P56559;Q4A519 AB016811;ABBA01001958;AC097713;AC105145;AF493892;AJ579850;AJ579851;AK314119;AMYH01011583;BC001051;BC089043;BM541491;BM904613;BT019378;BT019379;BU844902;CA413100;CD358707;CH471063;HI179044;NM_005737;Y17804 AAH89043;AAM12606;AAV38185;AAV38186;AAX93114;ACE86833;ACE87519;BAA75473;BAG36810;CAB44355;CAE30322;CAE30323;CBX53831;EAW71073;EAW71074;NP_005728;P56559 Hs.111554;Hs.730678 1739221;2151987;5096620 D2S1923;STS-T91940;WI-15413 ARL7;LAK ADP ribosylation factor-like protein 7;ADP-ribosylation factor-like protein 4C;ADP-ribosylation factor-like protein 7;ADP-ribosylation factor-like protein LAK;OTTHUMP00000164395 APPROVED protein-coding ENSG00000188042 698 11988 604787 REVIEWED 1316723 ARL5C ADP-ribosylation factor-like 5C 17 17 17 q12 33974029 33983324 - 37313147 37322414 - 37313147 37322414 - 6480464 16625196;11181995 390790 A6NH57;K7EM39 ABBA01031883;AC004408;AK310706;AMYH01008374;CH471152;NM_001143968 A6NH57;EAW60555;NP_001137440 Hs.568007 5016478;5017170;5022578 D1S1423;GDB:434012;L29953 ARL12;FLJ17748 ADP-ribosylation factor-like protein 12;putative ADP-ribosylation factor-like protein 5C protein-coding 31111 PROVISIONAL 734227 ARL3 ADP-ribosylation factor-like 3 ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008] 10 10 q23.3 104423478 104464180 - 104433484 104474190 - 68742;1580863;6480464 8034651 18588884;16525022;16472755;16169070;15489334;12477932;12417528;12107411;11980706;11847227;11303027;11188688;10518933;10072593;9110174;8619474;7566098;16385451;20106869;8889548;22960633;18029348;21139048;21890473;21906983;22002721 403 P36405 AA325516;ABBA01063137;ABBA01063138;ABBA01063139;ABBA01063140;ABBA01063141;AF038193;AF493889;AK312525;AL391121;AMYH01003020;AW269939;BC008032;BC009841;BC025759;BE780186;BM661686;BQ638232;CD245572;CH471066;CR407637;NM_004311;U07151 AAA21654;AAH09841;AAM12603;ABM84157;ABM87559;BAG35424;CAG28565;EAW49678;NP_004302;P36405 Hs.182215 1653072;1656117;1765215;1776566;2110995;2111208;2113092;2124887 A002G45;D10S2455;D10S476E;D10S669E;RH11266;RH41912;SHGC-12905;SHGC-148709 ARFL3 ADP-ribosylation factor-like protein 3;ARF-like 3;OTTHUMP00000020373;adp-ribosylation-like 3 APPROVED protein-coding 694 05260 604695 REVIEWED 1315741 ARL4D ADP-ribosylation factor-like 4D ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38186886 38189037 + 38831879 38834030 + 41476353 41478504 + 1580863;6480464 7590735;17398095;15489334;15314642;15258860;12477932;12472661;10508919;10462049;8889548;7581362;7545954;16169070;15761153;21832049;22927989;21890473;21906983 379 P49703 AB060692;ABBA01028417;AC087650;AK314951;AMYH01008406;BC000043;BI547763;BM682844;BU729196;CH471178;L38490;NM_001661 AAA57126;AAH00043;BAB91080;BAG37456;EAW51681;EAW51682;NP_001652;P49703 Hs.183153;Hs.709866 1734046;1853594;2107845;2118933 ARF4L_8207;D17S1343;RH70270;SHGC-11073 ARF4L;ARL6 ADP-ribosylation factor 4-like;ADP-ribosylation factor-like 6;ADP-ribosylation factor-like protein 4D;ADP-ribosylation factor-like protein 4L APPROVED protein-coding ENSG00000175906 656 02842 600732 REVIEWED 1342975 ARL6IP1P1 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1 14 q11.2 22115933 22118621 - 100288702;378712 ABBA01061265;AE000521;AE000658;AMYH01005596;NG_022838 ARL6IPP1 APPROVED pseudo 23178 INFERRED 7205015 ARL6IP1P2 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2 10 p11.21 37283951 37284515 + 646348 ABBA01033308;AL591105;AMYH01002250;NG_022169 pseudo 44971 INFERRED 7205183 ARL6IP1P3 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3 11 q14.1 80364469 80365028 - 729790 ABBA01017390;AMYH01003834;AP002759;NG_021793 pseudo 44972 INFERRED 1313675 ARL5B ADP-ribosylation factor-like 5B ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010] 10 10 10 p12.31 18633827 18652457 + 18988319 19006946 + 18948313 18966940 + 737633;1580863;6480464 12477932 15761153;15489334;15146197;14702039;12853149;21658281;16385451;20932310;22172677;21139048;21890473;21906983;22245584;22505724 221079 B0YIW9;Q96KC2 ABBA01034535;AF494061;AK027275;AL512641;AL700452;AMYH01002156;BC024163;CH471072;CN301486;EF444954;NM_178815 AAH24163;AAM74076;ABM84092;ABM87463;ACA05947;BAB55011;EAW86190;NP_848930;Q96KC2 Hs.25362 ARL8 ADP-ribosylation factor-like protein 5B;ADP-ribosylation factor-like protein 8;ADP-ribosylation-like factor 8;OTTHUMP00000019260 APPROVED protein-coding 23052 12328 608909 VALIDATED 1346010 ARL5A ADP-ribosylation factor-like 5A The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146272160 146299690 - 152365726 152393255 - 152657480 152685009 - 1580863;6480464 15896705;15489334;12477932;12450215;12414990;10931946;21832049;19322201 26225 F8WER2;Q9Y689 ABBA01004781;AC097448;AF087889;AF100740;AF493891;AK292714;AK298937;AMYH01011178;BC001254;BG707385;BM800611;BQ216648;BT009829;BX461356;CH471058;CX867116;NM_001037174;NM_012097;NM_177985 AAD40383;AAH01254;AAM12605;AAP88831;AAP97188;AAX82013;ABM82119;ABM85302;BAF85403;BAG61039;EAX11495;EAX11496;EAX11497;NP_001032251;NP_036229;NP_817114;Q9Y689 Hs.470233 5112175 RH102125 ARFLP5;ARL5 ADP-ribosylation factor-like protein 5;ADP-ribosylation factor-like protein 5A;OTTHUMP00000162713;OTTHUMP00000207220;OTTHUMP00000207221 APPROVED protein-coding 696 12343 608960 REVIEWED 1348114 ARL8A ADP-ribosylation factor-like 8A 1 1 1 q32.1 175225835 175237724 - 200368600 200380489 - 202102532 202113871 - 737633;69939;1580863;6480464 12477932;8889548 15331635;14871887;16710414;16537643;15489334;17207965;10737800;15342556;21139048;21890473;21906983 127829 Q96BM9 AB118752;ABBA01027509;ABBA01027510;AK127138;AK313122;AL592300;AMYH01001644;AW090198;BC015408;BC053358;BC069053;BG876867;BM548962;BM688638;BM999456;BP325806;BU727024;BX421006;CH471067;NM_001256129;NM_138795 AAH15408;ADQ32803;BAD23993;BAG35942;BAG54442;EAW91395;EAW91396;EAW91397;EAW91399;NP_001243058;NP_620150;Q96BM9 Hs.497399;Hs.604697 1761919;2218252 ARL10B_4367;SHGC-145852 ARL10B;FLJ45195;GIE2 ADP-ribosylation factor-like protein 10B;ADP-ribosylation factor-like protein 8A;OTTHUMP00000034102;novel small G protein indispensable for equal chromosome segregation 2;small G protein indispensable for equal chromosome segregation 2 protein-coding ENSG00000143862 25192 09807 VALIDATED 1606161 ARL9 ADP-ribosylation factor-like 9 ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008] 4 4 4 q12 54877789 54896005 + 57066132 57084815 + 57371375 57390058 + 6480464 15033445 132946 Q6T311 ABBA01003426;AC108215;AC114766;AMYH01014194;AY439003;CH471057;NM_206919 AAI41543;AAI48698;AAS07576;EAX05499;EAX05500;NP_996802;Q6T311 Hs.444449 1335809;1663271;1683705;2135260;2136488;2146733 D4S1075;D4S1507;D4S1518;G19659;RH10468;SHGC-51363 ADP-ribosylation factor-like protein 9 APPROVED protein-coding 23592 12486 612405 VALIDATED 1316976 ARL6IP4 ADP-ribosylation-like factor 6 interacting protein 4 12 12 12 q24.31 123057673 123060253 + 122030833 122033413 + 123464880 123467460 + 1580863;6480464 10708573;14702039;12477932;11884129;10508919;20098747;12107412;21963094;22113938;22505724 51329 B3V0L0;B3V0L1;F5GYV5;F5H3A0;F5H7X4;F8WCT1;F8WEP2;H7BZV4;Q66PJ3 AA887283;AB035384;ABBA01060439;AC026362;AF267748;AK027285;AK315759;AMYH01004835;AW189362;BC001958;BC015569;BC015909;BC094839;BQ643520;CD672894;CH471054;DQ099385;EU624490;EU624491;NM_001002251;NM_001002252;NM_001278378;NM_001278379;NM_001278380;NM_016638;NM_018694;NR_103512 AAF76892;AAH01958;AAH15569;AAH15909;AAH94839;AAZ13761;ACF07995;ACF07996;BAA94744;BAG38112;EAW98373;EAW98374;EAW98375;EAW98376;EAW98377;EAW98378;EAW98379;EAW98380;EAW98381;EAW98382;NP_001002251;NP_001002252;NP_001265307;NP_001265308;NP_001265309;NP_057722;NP_061164;Q66PJ3 Hs.103561 1771921;1778694;2176072;5107535 RH48254;RH78153;SGC30324;STS-AA022496 MGC814;SFRS20;SR-25;SRp25;SRrp37 ADP-ribosylation factor-like protein 6-interacting protein 4;ARL-6-interacting protein 4;HSP-975;HSVI binding protein;HSVI-binding protein;OTTHUMP00000239432;OTTHUMP00000239433;OTTHUMP00000239435;OTTHUMP00000239436;OTTHUMP00000239437;OTTHUMP00000239438;OTTHUMP00000239439;OTTHUMP00000239440;OTTHUMP00000239441;OTTHUMP00000239442;OTTHUMP00000239443;OTTHUMP00000239444;SR-15;SRp25 nuclear protein;aip-4;splicing factor, arginine/serine-rich 20;splicing regulator SRrp38 protein-coding ENSG00000182196 18076 09640 607668 VALIDATED 1313618 ARL6 ADP-ribosylation factor-like 6 The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013] 3 3 q11.2 98966285 99000063 + 97483595 97517373 + 1578724;1578725;1580863;6480464;7240710 15314642;10508919 19236846;19077438;16381901;15489336;15489334;15258860;12477932;12429613;11230166;11076863;10462049;8889548;7987310;20301590;21282186;19478329;20142850;20207729;20333246;19913121;20628086;20801516;20301537;16246095;21139048;23219996 84100 C9IZ13;H7C5H6;Q9H0F7 ABBA01026940;AC110491;AK292958;AK310829;AL136815;AL138043;AMYH01013351;BC024239;BG722744;BM705017;BU183949;BU607306;CH471052;DC323603;NG_008119;NM_001278293;NM_032146;NM_177976;NR_103511 AAH24239;BAF85647;CAB66749;CAL37540;CAL38233;EAW79880;EAW79881;EAW79882;EAW79883;EAW79884;NP_001265222;NP_115522;NP_816931;Q9H0F7 Hs.373801 BBS3;MGC32934;RP55 ADP-ribosylation factor-like protein 6;OTTHUMP00000214308;OTTHUMP00000214309;OTTHUMP00000214310;bardet-Biedl syndrome 3 protein APPROVED protein-coding ENSG00000113966 13210 10588 209900;608845;613575 REVIEWED 6482622 ARMC10P1 armadillo repeat containing 10 pseudogene 1 3 q11.2 94224382 94226494 - 389137 ABBA01026967;AC024218;AMYH01013340;NG_012229 pseudo 43646 INFERRED 1347021 ARL6IP6 ADP-ribosylation-like factor 6 interacting protein 6 2 2 2 q23.3 147188879 147232317 + 153283373 153325669 + 153574407 153617767 + 6480464 17207965;16344560;15342556;14702039;12477932;10508919;21832049 151188 B3KMZ5;H7C0H7;H7C192;Q8N6S5 AA654338;ABBA01004797;AC079344;AF530059;AK023109;AK094696;AK315657;AMYH01011181;AW967583;BC028741;BC070140;BP200063;BP265220;BX437990;CH471058;CQ834436;CQ834476;DA012142;DA801290;NM_152522;NR_024526 AAH28741;AAH70140;AAQ09943;AAX93217;ADQ31833;BAG38023;BAG51157;CAH05433;CAH05453;EAX11475;EAX11476;EAX11477;EAX11478;NP_689735;Q8N6S5 Hs.516468;Hs.643580 1734900;2114916;2121992;2131879;2135132;5019813 A009X25;D2S1676E;G32948;RH16515;SHGC-30474;SHGC-57826 AIP-6;MGC33864;PFAAP1 ADP-ribosylation factor-like protein 6-interacting protein 6;ADP-ribosylation-like factor 6-interacting protein 6;ARL-6-interacting protein 6;OTTHUMP00000162728;aip-6;phosphonoformate immuno-associated protein 1;regulated by phosphonoformate protein-coding ENSG00000177917 24048 12485 VALIDATED 1351870 ARL8B ADP-ribosylation factor-like 8B 3 3 3 p26.1 5101851 5160484 + 5138930 5197601 + 5163930 5222601 + 737633;1580863;6480464 12477932 15331635;14871887;16650381;16537643;15761153;15489334;14702039;16169070;19398576;21802320;21674799;21832049;21987572;21824248;21139048;21890473;21906983;19322201;21963094;21988832;22053931;22993228;23000965;22505724 55207 B4DI85;F2Z344;F8WAW5;Q9NVJ2 AB118751;ABBA01020458;ABBA01020459;AC021999;AC026202;AF086108;AK001564;AK295465;AK298951;AK303872;AL110242;AMYH01012952;BC013131;BC063125;CH471055;CR457264;NM_018184 AAH13131;AAH63125;BAA91759;BAD23992;BAG58397;BAG61050;BAG64810;CAG33545;EAW63919;EAW63920;EAW63921;EAW63922;NP_060654;Q9NVJ2 Hs.250009 1653369;1674888;1687680;1706462;1735084;1735136;1774503;2144971;5113228 1612;D3S2357;D3S2771E;D3S2799E;RH68941;RH98975;SHGC-76669;SHGC-76670;SHGC-81116 ARL10C;FLJ10702;Gie1 ADP-ribosylation factor-like 10C;ADP-ribosylation factor-like protein 10C;ADP-ribosylation factor-like protein 8B;OTTHUMP00000115526;OTTHUMP00000206914;novel small G protein indispensable for equal chromosome segregation 1 protein-coding ENSG00000134108 25564 12483 VALIDATED 6480855 ARMC2-AS1 ARMC2 antisense RNA 1 100874026 AL445189;BG504478 APPROVED miscrna 41008 1345801 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 16 16 16 p12-p11.2 17956727 17966592 - 18710492 18720358 - 18802991 18812857 - 1580863;6480464 14702039;12754298;12477932;10995579;10508919;7584044;19019082;16169070;16189514;15489334;17207965;19060904;20372863;20213509;18029348;21900206;21987572;21139048;21890473;21906983;19322201;22053931;22505724 23204 F5GXP4;H3BPJ2;H3BS91;H3BTX6;Q15041 ABBA01028242;AC138811;AK291137;AK300825;AK300869;AK301636;AK307315;AK308092;AK308744;AMYH01007309;BC010281;BX648446;CH471186;D31885;NM_015161 AAH10281;ADQ32858;BAA06683;BAF83826;BAH13355;BAH13361;BAH13527;EAW50257;EAW50258;NP_055976;Q15041 Hs.634882 1684224;1848029 D16S3202;RH25299 AIP1;ARL6IP;ARMER;KIAA0069 ADP-ribosylation factor-like protein 6-interacting protein 1;ARL-6-interacting protein 1;OTTHUMP00000162056;aip-1;apoptotic regulator in the membrane of the endoplasmic reticulum protein-coding ENSG00000170540 697 09641 607669 PROVISIONAL 1344465 ARL6IP5 ADP-ribosylation-like factor 6 interacting protein 5 Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008] 3 3 p14 69216780 69237929 + 69134090 69155239 + 1299537;1580863;6480464 11242046 18684713;18167356;17646425;17479403;17479402;17479401;17336041;16922813;16640902;16481131;16468075;16430862;16331563;16303743;15864752;15757671;15489334;14761432;12761501;12665801;12562531;12477932;12438930;12119102;11042152;10508919;8125298;16766476;16638297;18029348;20201924;22939629;22433565;19080375;19208635;21987572;22357531;21139048;21890473;21906983;21103663;23000965;23142642;23246001;23461062;23285001;22505724;22452940 10550 C9JQU6;F8WF33;F8WF90;O75915 AB014765;AB052638;AB097051;ABBA01030898;AC092060;AF070523;AF115965;AF125530;AF161476;AK074612;AK223566;AK301637;AK312731;AMYH01013260;AY102608;BC005143;BC020797;BC107899;BG483337;BU149630;CH471055;NM_006407 AAC64360;AAF17224;AAF29091;AAH05143;AAH20797;AAM28950;AAP97237;BAC66462;BAC77404;BAD83603;BAD97286;BAG35602;BAG51976;BAG63118;EAW65473;EAW65474;NP_006398;O75915 Hs.518060;Hs.745255 1663318;1670622;1672068 SHGC-33714;SHGC-52890;SHGC-77077 DERP11;GTRAP3-18;HSPC127;JWA;PRAF3;addicsin;hp22;jmx ADP-ribosylation factor-like protein 6-interacting protein 5;ARL-6-interacting protein 5;JM5;OTTHUMP00000213432;PRA1 domain family 3;PRA1 family protein 3;aip-5;cytoskeleton related vitamin A responsive protein;cytoskeleton-related vitamin A-responsive protein;dermal papilla derived protein 11;dermal papilla-derived protein 11;glutamate transporter EAAC1-interacting protein;glutamate transporter EEAC1-associated protein;prenylated Rab acceptor protein 2;protein JWa;putative MAPK activating protein PM27;putative MAPK-activating protein PM27 APPROVED protein-coding ENSG00000144746 16937 09303 605709 REVIEWED 7204788 ARMC4P1 armadillo repeat containing 4 pseudogene 1 10 27551925 27602834 + 101060171 ABBA01034391;ABBA01034392;ABBA01034393;AL160291;AL354859;AL355493;AMYH01002205;XM_003959931;XM_003960467;XM_003960856 XP_003959980;XP_003960516;XP_003960905 armadillo repeat containing 4 pseudogene 1 protein-coding 44937 MODEL 1605608 ARMC10 armadillo repeat containing 10 This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011] 7 7 7 q22.1 97523222 97548131 + 102502564 102527441 + 102715328 102740210 + 6480464 16303743;15252450;14702039;12853948;12839973;12477932;8125298;20379614;20877624;17904127;17342744;21139048;21906983 83787 C9J5N7;H7BXM8;H7BXQ8;H7C2M7;Q8IZC2 ABBA01057995;AC007683;AC073127;AC108167;AF275808;AI761577;AK075500;AK095169;AK225082;AK291818;AK301565;AMYH01017810;AY150851;AY150852;AY150853;AY150854;BC003586;BM989172;BQ004061;BQ440425;BU941174;CH471070;CS051331;NG_030014;NM_001161009;NM_001161010;NM_001161011;NM_001161012;NM_001161013;NM_031905 AAH03586;AAN72313;AAN72314;AAN72315;AAN72316;AAS07456;AAS07482;AAS07531;BAC11655;BAF84507;BAG63060;CAI72160;EAW83311;EAW83312;EAW83313;NP_001154481;NP_001154482;NP_001154483;NP_001154484;NP_001154485;NP_114111;Q8N2F6 Hs.287412 2120594;2169083;2180604;2180606;5024761 A005K35;G20289;G27625;RH36905;RH77969 FLJ37850;MGC3195;PNAS-112;PNAS112;PSEC0198;SVH OTTHUMP00000211682;OTTHUMP00000211683;OTTHUMP00000211684;OTTHUMP00000211685;OTTHUMP00000211688;armadillo repeat-containing protein 10;specific splicing variant involved in hepatocarcinogenesis;splicing variant involved in hepatocarcinogenesis protein APPROVED protein-coding ENSG00000170632 21706 18133 611864 REVIEWED 1312695 ARMC3 armadillo repeat containing 3 Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008] 10 10 10 p12.31 22904614 23014160 + 23256966 23366520 + 23216954 23326514 + 6480464 16915934;16397042;14702039;12477932;16385451;20379614;23382691 219681 B4DXS3;C9JC46;Q5W042;Q96M49 ABBA01034471;ABBA01034472;AC079269;AK057389;AK090961;AK098711;AK302104;AK302985;AL139815;AMYH01002185;AMYH01002186;AY436643;BC039312;CH471072;DB459427;NM_173081 AAH39312;AAR99738;BAB71463;BAC05389;BAG63485;BAG64125;EAW86137;EAW86138;EAW86139;NP_775104;Q5W041 Hs.659807 1700418;1747619;2113930 AB070084;G65505;RH103830 CT81;FLJ25845;FLJ32827;KU-CT-1;RP11-300B11.1 OTTHUMP00000019303;OTTHUMP00000019304;OTTHUMP00000205394;OTTHUMP00000205395;armadillo repeat-containing protein 3;beta-catenin-like protein;cancer/testis antigen 81 APPROVED protein-coding ENSG00000165309 30964 12487 611226 VALIDATED 1350350 ARMC2 armadillo repeat containing 2 6 6 6 q21 109915511 110041258 + 109276312 109402045 + 109169619 109295352 + 1580863;6480464 16344560;18978678;16381901;15489336;14702039;12477932;11230166;11076863;20080650;21946350;23284291 84071 B0QZC1;G5E993;H0Y4P5;Q8NEN0 ABBA01026140;ABBA01026141;AK095234;AK292499;AK294574;AL136754;AL390208;AL445189;AMYH01016580;AMYH01016581;AW195322;BC030603;CH471051;DA196834;NM_032131 AAH30603;BAF85188;BAG53010;BAG57766;CAB66688;CAL37642;CAL38457;EAW48369;EAW48370;NP_115507;Q8NEN0 Hs.645481 1667503;1670584;1705232;1768762;1852736;2152562;2180136;5111194 D6S2100;GDB:4584994;RH46688;RH66169;SHGC-31355;SHGC-37334;SHGC-78104;WI-18640 DKFZp434P0714;RP11-787I22.1;bA787I22.1 OTTHUMP00000016947;armadillo repeat-containing protein 2 protein-coding ENSG00000118690 23045 09809 VALIDATED 1315828 ARMC4 armadillo repeat containing 4 10 10 10 p12.1-p11.23 27864582 28051379 - 28141103 28327983 - 28101097 28287977 - 6480464 15164054;14702039;12477932;11230166;16385451;20877624;23251661 55130 A8K906;B7Z7I1;E7ESX8;F5H5Q9;Q5T2S8;Q5T2S9;R4GN11 ABBA01034380;ABBA01034381;ABBA01034382;ABBA01034383;AK001238;AK001679;AK292521;AK301708;AK302048;AK302419;AK302627;AL136859;AL355372;AL390866;AMYH01002207;AMYH01002208;BC085611;BC140846;CH471072;NM_018076 AAI40847;BAA91574;BAF85210;BAH13537;BAH13617;BAH13703;BAH13766;CAB66793;EAW86049;EAW86050;NP_060546;Q5T2S8 Hs.127530 2182409;2218254 ARMC4_4371;WI-18023 DKFZp434P1735;FLJ10376;FLJ10817;FLJ32798;RP11-691I13.1 OTTHUMP00000019375;armadillo repeat-containing protein 4 protein-coding ENSG00000169126 25583 10663 VALIDATED 1314376 ARMC12 armadillo repeat containing 12 6 6 6 p21.31 37259440 37271267 + 35812837 35824663 + 35704859 35716685 + 6480464 17081983;15489334;14702039;14574404;12477932 221481 F8WC51;Q5T9G4 ABBA01038241;ABBA01038242;AK058119;AL157823;AMYH01016268;BC033033;CH471081;NM_145028 AAH33033;BAB71672;EAX03844;EAX03845;NP_659465;Q5T9G4 Hs.533066 1697080 RH102021 C6orf81;FLJ25390 OTTHUMP00000016269;OTTHUMP00000016270;OTTHUMP00000215607;armadillo repeat-containing protein 12;hypothetical protein LOC221481;uncharacterized protein C6orf81 APPROVED protein-coding ENSG00000157343 21099 12901 PROVISIONAL 1343337 ARMC1 armadillo repeat containing 1 8 8 8 q13.1 62506147 62537940 - 66677618 66708986 - 66514691 66546452 - 1580863;6480464 15489334;14702039;12477932;17207965;20379614;20877624;21832049;15840729;21139048;19322201;21963094;21988832;23251661 55156 B4E2W7;E5RHK3;E5RJ86;E9PR92;Q9NVT9 ABBA01041859;ABBA01041860;ABBA01041861;ABBA01041862;AC055822;AC100814;AK001373;AK024053;AK304463;AL512767;AMYH01018769;BC011607;BC018846;CH471068;NM_018120 AAH11607;ADQ31864;BAA91656;BAB14803;BAG65279;CAC21684;EAW86880;NP_060590;Q9NVT9 Hs.269542 1657548;1694556;1848633;1853768;2123961;2167142 A004P18;D8S1093;G43227;RH18401;SGC34090;STS-R53749 Arcp;FLJ10511 OTTHUMP00000226552;armadillo repeat-containing protein 1 protein-coding ENSG00000104442 17684 16506 VALIDATED 1315235 ARMC5 armadillo repeat containing 5 16 16 16 p11.2 28829903 28838074 - 31377818 31385989 + 31470317 31478488 + 1580863;6480464 14702039;12477932;11214971;21145461;21963094 79798 E7EMQ9;F5H156;H3BS74;J3KQ26;Q96C12 ABBA01042096;AC026471;AK023125;AK024430;AK294897;AK295790;AK297115;AMYH01007509;AY217348;BC014945;CH471192;NM_001105247;NM_024742 AAH14945;AAO45101;BAB14418;BAB15720;BAG57988;BAG58611;BAG59622;EAW52131;EAW52132;EAW52133;NP_001098717;NP_079018;Q96C12 Hs.732945 FLJ00019;FLJ13063 armadillo repeat-containing protein 5 protein-coding ENSG00000140691 25781 07809 VALIDATED 1347915 ARMC7 armadillo repeat containing 7 17 17 17 q25.1 69698445 69718737 + 70617677 70637955 + 73106082 73126360 + 737633;1580863;6480464 12477932 16189514;15489334;14702039;17207965;21832049 79637 B4DVA4;J3KST7;J3KTE5;Q9H6L4 ABBA01028816;ABBA01028817;AC022211;AC111186;AK025813;AK300997;AMYH01008629;BC011728;CH471099;NM_024585 AAH11728;ADQ33149;BAB15242;BAG62616;EAW89236;EAW89237;EAW89238;EAW89239;NP_078861;Q9H6L4 Hs.413047 2179775 RH15966 FLJ22160 armadillo repeat-containing protein 7 protein-coding ENSG00000125449 26168 08649 PROVISIONAL 1348624 ARMC6 armadillo repeat containing 6 The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 19 19 19 p13.11 19049287 19073824 + 19005471 19029980 + 19144387 19168987 + 737633;6480464 12477932 17353931;15489334;15057824;20811636;8895530;18781797;20639865;21987572;19471022;21139048;21890473;21906983;22505724;22797925 93436 B4E1N1;F5GWV0;F5GYY4;F5GZP0;F5H052;F5H2K4;F5H2X2;F5H3X1;F5H3Y9;F5H4H6;F5H4P3;F5H6J3;F5H7V0;H0YGL0;H0YGQ5;H0YH65;Q6NXE6 ABBA01051306;ABBA01051307;ABBA01051308;AC003038;AC004447;AK295488;AK303914;AMYH01009605;AW615748;BC003700;BC056161;BC067125;BQ012036;BX648486;CH471106;CR749678;CX869901;NM_001199196;NM_033415;Z36779 AAD03162;AAH03700;AAH67125;BAG58410;BAG64843;CAH18469;EAW84775;EAW84776;NP_001186125;NP_219483;Q6NXE6 Hs.77876 1337320;1729413;1850732;1850734 D19S1018;D19S48;D19S566;RH77737 MGC19595;R30923_1 OTTHUMP00000240623;OTTHUMP00000240624;OTTHUMP00000240627;OTTHUMP00000240629;OTTHUMP00000240630;armadillo repeat-containing protein 6 APPROVED protein-coding ENSG00000105676 25049 12488 REVIEWED 5144366 ARMCX3-AS1 ARMCX3 antisense RNA 1 (non-protein coding) X X X q22.1 101398325 101399726 - 100764403 100765808 - 100877747 100879148 - 100128574 AADB02036910;ABBA01045007;AL121883;XM_001714987;XM_001722392;XM_001723116 XP_001715039;XP_001722444;XP_001723168 Hs.711860 ARMCX3 antisense RNA 1 (non-protein coding) protein-coding 41038 MODEL 1347581 ARMCX4 armadillo repeat containing, X-linked 4 The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q22.1 101192724 101307940 + 100559939 100587809 + 100673251 100790975 + 737633;6480464 12477932 11181995;14702039;15772651;16344560;17974005;7907279;9770300 100131755 D6RBS8;F8W8Y7;Q5H9R4;Q8N0S0 ABBA01044979;ABBA01044980;ABBA01044981;ABBA01044982;ABBA01044983;ABBA01044984;ABBA01044985;ABBA01044986;ABBA01044987;ABBA01044988;ABBA01044989;ABBA01044990;ABBA01044991;ABBA01044992;ABBA01044993;ABBA01044994;ABBA01044995;ABBA01044996;ABBA01044997;AC234775;AK096955;AK125041;AK126987;AK292543;AL035422;AL050285;AL133280;AMYH01022725;AMYH01022726;AY726601;BC032236;BC036206;CH471115;CR933662;DA450941;DA531702;NG_017196;NM_001256155;NM_152583;NR_028407;NR_045861;NR_045862;NR_045863;NR_045864;Z68873;Z69838 BAC04910;BAF85232;BAG54416;CAI45960;EAX02868;EAX02869;EAX02870;EAX02871;EAX02872;EAX02873;NP_001243084;Q5H9R4 Hs.729062 1335103;1664615;1678561;1681064;1685818;1686961;1702914;2116025;7184716 DXS178;DXS8089;DXS9783;RH65164;RH65720;RH91944;RH93397;RH94111 CXorf35;DKFZp586N0819;DKFZp781M0415;FLJ39636;FLJ43051;FLJ45041;MGC40053 armadillo repeat containing, X-linked 4 pseudogene;armadillo repeat-containing X-linked protein 4 APPROVED protein-coding ENSG00000196440 28615 VALIDATED 1601876 ARMC8 armadillo repeat containing 8 3 3 3 q22.3 136330912 136441107 + 139388838 139498909 + 137906115 138017231 + 6480464 17467196;14702039;12477932;11042152;20224683;21145461;17207965;19615732;23022380;21900206;21139048;18215130 25852 A8MTG8;B7Z637;C9J2I1;C9J625;C9J8P8;C9JAA7;C9JBY2;G5E9V6;G5E9V7;H7C4J4;H7C5B7;H7C5H2;Q96HZ5 ABBA01059094;AC022337;AC068777;AF109184;AF161541;AK001721;AK001882;AK098500;AK127341;AK128702;AK289577;AK296757;AK296837;AK299229;AK299769;AK304558;AK315932;AL096748;AMYH01013531;BC013424;BC032661;BC041699;BF966252;BQ014283;BQ719381;BX538188;CH471052;CX167429;DC304503;DC342329;NM_001267041;NM_001267042;NM_014154;NM_015396;NM_213654;NR_049770 AAF29028;AAH13424;AAH32661;AAH41699;AAQ13493;ADQ32698;BAA91861;BAA91959;BAF82266;BAH12427;BAH12439;BAH12976;BAH13123;BAH14215;BAH14303;CAB46423;EAW79075;EAW79076;EAW79077;EAW79078;EAW79079;EAW79080;EAW79081;EAW79082;NP_001253970;NP_001253971;NP_054873;NP_056211;NP_998819;Q8IUR7 Hs.266826 1650421;1679249;1684840;1687950;1694652;1735324;2114535;2168847;2168849;2178832;5037552;5109689 A005Y32;D3S2952E;D8S2279;D9S1004E;G20601;G31439;G43503;RH11764;RH46236;RH93844;SHGC-53479;STS-H73237 GID5;HSPC056;MGC10058;MGC4880;S863-2;VID28 GID complex subunit 5, VID28 homolog;OTTHUMP00000216633;OTTHUMP00000216634;OTTHUMP00000216635;OTTHUMP00000216636;OTTHUMP00000216637;OTTHUMP00000216638;OTTHUMP00000216639;OTTHUMP00000216640;OTTHUMP00000216641;armadillo repeat-containing protein 8 protein-coding ENSG00000114098 24999 09992 VALIDATED 1346634 ARMD1 age-related macular degeneration 1 (senile macular degeneration) 7240710 9715689 404 699 603075 1345943 ARMCX1 armadillo repeat containing, X-linked 1 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008] X X X q21.33-q22.2 101325006 101329176 + 100692170 100696339 + 100805514 100809683 + 1580863;6480464 16303743;15772651;15489334;14702039;12477932;11162520;8125298;20398052;22494058;23000965 51309 Q68D26;Q9P291 AB039670;ABBA01044999;AC234775;AF248963;AK074785;AK222578;AMYH01022726;AMYH01022727;BC002691;CH471115;CQ782722;CR749609;NG_015846;NM_016608;Z73913 AAG44561;AAH02691;ABM84422;ABM87397;BAA94603;BAC11208;BAD96298;CAF85956;CAH18404;CAI41999;EAX02874;EAX02875;NP_057692;Q9P291 Hs.9728 1649267;2134116;2180724 A008W48;RH18254;STS-Z40853 ALEX1;DKFZp686P06199 ARM protein lost in epithelial cancers on chromosome X 1;OTTHUMP00000023686;arm protein lost in epithelial cancers, X chromosome, 1;armadillo repeat-containing X-linked protein 1 APPROVED protein-coding ENSG00000126947 18073 02292 300362 REVIEWED 1602335 ARMCX2 armadillo repeat containing, X-linked 2 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX1 and ALEX3, on the X chromosome. Two alternative transcripts that encode the same protein but differ in the 5' UTR have been described. Additional alternative transcripts may exist but their full length natures have not been determined. A pseudogene for this locus is located on chromosome 7. [provided by RefSeq, Jul 2008] X X X q21.33-q22.2 101430845 101435442 - 100796923 100801519 - 100910267 100914863 - 6480464 15772651;15489334;15383276;12477932;11162520;9628581;8889548;22249249;21139048 9823 Q5H9D7;Q5H9D8;Q5H9E0;Q5H9E1;Q7L311 AB011084;ABBA01045009;AC234775;AK291342;AL709063;AMYH01022734;BC012541;BC015926;BC052628;BG548388;BM676866;BX648494;CH471115;NG_013221;NM_014782;NM_177949;Z83131 AAH12541;AAH15926;ABM84493;ABM85249;BAA25438;BAF84031;CAI42019;CAI42020;CAI42021;CAI42022;CAI42023;CAI42024;EAX02885;EAX02886;EAX02887;EAX02888;EAX02889;EAX02890;EAX02891;NP_055597;NP_808818;Q7L311 Hs.48924 1644890;1644892;1702546;1849254;2109061;2159230 A001V26;ARMCX2_8998;DXS7453;G19687;RH46199;SGC30561 ALEX2;KIAA0512;MGC13343;MGC8742 ARM protein lost in epithelial cancers on chromosome X 2;OTTHUMP00000023690;OTTHUMP00000023691;OTTHUMP00000023692;OTTHUMP00000023693;OTTHUMP00000023694;OTTHUMP00000023695;OTTHUMP00000023696;OTTHUMP00000023697;arm protein lost in epithelial cancers, X chromosome, 2;armadillo repeat protein ALEX2;armadillo repeat-containing X-linked protein 2 APPROVED protein-coding ENSG00000184867 16869 02293 300363 REVIEWED 5133068 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough This locus represents naturally occurring read-through transcription between the neighboring armadillo repeat containing, X-linked 5 and G protein-coupled receptor associated sorting protein 2 genes on chromosome X. The read-through transcript produces a protein identical to protein encoded by the downstream locus, G protein-coupled receptor associated sorting protein 2. [provided by RefSeq, Dec 2010] X q22.1 101854276 101972661 + 11256614;14702039;15086532;15489334;15772651;20967262 100528062 Q96D09 ABBA01020952;ABBA01020953;ABBA01020954;ABBA01020955;ABBA01020956;ABBA01020957;ABBA01020958;ABBA01020959;ABBA01020960;ABBA01020961;ABBA01020962;ABBA01020963;ABBA01020964;AL035427;AL035551;AMYH01022792;BG392679;NM_001199818 NP_001186747;Q96D09 Hs.522729 1659996 RH78520 FLJ39373;KIAA1701 G-protein coupled receptor-associated sorting protein 2 APPROVED protein-coding 42000 VALIDATED 1350791 ARMCX5 armadillo repeat containing, X-linked 5 X X X q22.1-q22.3 102292727 102297718 + 101740814 101745743 + 101854096 101859087 + 737633;6480464 12477932 18029348;15772651;15489334;14702039;15342556;16344560;21139048;21906983 64860 Q6P1M9 ABBA01020952;AK023031;AK023444;AK096692;AL035551;AL537480;AMYH01022792;BC000792;BC022066;BC047679;BC050678;BC058904;BC064983;BE296807;BI765968;BP230064;BX352705;CH471190;CR749476;DA396979;DA558590;DA684921;DN991222;NG_016347;NM_001168478;NM_001168479;NM_001168480;NM_001168482;NM_001168485;NM_022838 AAH00792;AAH58904;AAH64983;ADR82760;BAB14367;BAG53350;CAH18306;EAW54732;EAW54733;EAW54734;NP_001161950;NP_001161951;NP_001161952;NP_001161954;NP_001161957;NP_073749;Q6P1M9 Hs.522729 2164469;2170462;5123807 A002R08;A006P15;DXS9778 DKFZp686A22185;FLJ12969;FLJ13382 OTTHUMP00000023718;OTTHUMP00000023719;armadillo repeat-containing X-linked protein 5 protein-coding ENSG00000125962 25772 06521 VALIDATED 1604597 ARMC9 armadillo repeat containing 9 2 2 2 q37.1 225838840 225986283 + 231771586 231918158 + 232063294 232238606 + 6480464 16381901;16344560;15815621;15489336;15489334;14702039;12477932;11691810;11347906;11230166;11076863;20379614;19913121;20628086;22863883;21832049;21890473;23400010 80210 C9J535;C9JW07;H7BZA2;H7BZY2;H7C2P6;H7C3U7;Q7Z3E5 AB058771;ABBA01002058;ABBA01002059;ABBA01002060;ABBA01002061;ABBA01002062;ABBA01002063;AC009407;AC018738;AK022646;AK027163;AK309395;AMYH01011555;AMYH01011556;AY219922;AY929062;BC004514;BC065271;BX537956;CA427360;CH471063;DA030137;HY022484;NM_001271466;NM_025139 AAH04514;AAH65271;AAO63554;AAX22760;AAX93129;BAB14153;BAB15678;BAB47497;CAD97923;CAL38172;EAW70950;EAW70951;EAW70952;EAW70953;EAW70954;EAW70955;EAW70956;NP_001258395;NP_079415;Q7Z3E5 Hs.471610 1339325;1340990;1651590;1682670;1693270;1718591;1754357;1779194;1783902;1847893;1852019;2129485;5014051;5015621;5015861;5020946;5022200;7185938 D10S16;D11S3732;D2S1335;D2S1392;D2S2193;D2S427;D8S2278;G27370;G42338;L17971;L18426;RH122981;RH91748;SHGC-106690;SHGC-132378;SHGC-152748;SHGC-24315 ARM;FLJ12584;KU-MEL-1 NS21;OTTHUMP00000164302;armadillo/beta-catenin-like repeats;lisH domain-containing protein ARMC9;melanoma/melanocyte specific protein KU-MEL-1;melanoma/melanocyte-specific tumor antigen KU-MEL-1 protein-coding ENSG00000135931 20730 07778 VALIDATED 1352776 ARMCX6 armadillo repeat containing, X-linked 6 X X X q21.33-q22.3 101390686 101393569 - 100756764 100759647 - 100870108 100872991 - 737633;1580863;6480464 12477932 17081983;15772651;15489334;14702039;16344560;17207965 54470 Q7L4S7 ABBA01045006;ABBA01045007;AC234775;AI076820;AK000818;AK097018;AL121883;AMYH01022733;AMYH01022734;AW955663;BC007677;BX423052;CH471115;DA933518;L20773;NG_021313;NM_001009584;NM_001184768;NM_019007;NR_033669;NR_033670 AAH07677;ADQ31855;BAA91387;CAI42938;EAX02877;EAX02878;EAX02879;NP_001009584;NP_001171697;NP_061880;Q7L4S7 Hs.83530 1655091;1776294;2109063;2157418;7184640 ARMCX6_9788;DXS178;DXS7495;RH1711;RH36040 FLJ20811 OTTHUMP00000023687;protein ARMCX6 protein-coding ENSG00000198960 26094 06536 VALIDATED 1604814 ARMCX3 armadillo repeat containing, X-linked 3 This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X X q22.1 101398698 101403409 + 100764776 100769487 + 100878120 100882831 + 6480464 15772651;19304657;18029348;17081983;15489334;12975309;12477932;12107410;11162520;11042152;8125298;16169070;17643375;22863883;21832049;22939629;21139048;21890473;22797925 51566 H3BM63;H3BV87;Q9UH62 AB039669;ABBA01045007;AC234775;AF211175;AK222655;AK291225;AL121883;AL708980;AMYH01022734;AY359079;BC005194;BG035798;BM905704;BU838618;BX647802;CA397688;CH471115;CR933656;NG_013222;NM_016607;NM_177947;NM_177948 AAF24487;AAH05194;AAQ89438;ABM83965;ABM87279;BAA94602;BAD96375;BAF83914;CAI42939;CAI45955;EAX02880;EAX02881;EAX02882;EAX02883;EAX02884;NP_057691;NP_808816;NP_808817;Q9UH62 Hs.592225 1787400;2116734 RH36341;SHGC-64837 ALEX3;DKFZp781N1954;KIAA0443;MGC12199;dJ545K15.2 1200004E24Rik;ARM protein lost in epithelial cancers on chromosome X 3;OTTHUMP00000023688;arm protein lost in epithelial cancers, X chromosome, 3;armadillo repeat-containing X-linked protein 3 APPROVED protein-coding ENSG00000102401 24065 02294 300364 REVIEWED 1606093 ARMS2 age-related maculopathy susceptibility 2 This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008] 10 10 q26.13 124204169 124206858 + 124214179 124216868 + 7240710 18079691;19491722;19268887;19259132;19255159;19202148;19197355;19169232;19168221;19065273;19048105;19001225;18936151;18855541;18762075;18688167;18682812;18682806;18569809;18544707;18515590;18511946;18493315;18461138;18452766;18436811;18423869;18400199;18325906;18292785;18248681;18164066;18162041;18161619;22487577;22840423;22977134;23060141;22509112;18061132;18054635;17884985;17846368;17692272;17675241;17485225;17456821;17426452;17352366;17347568;17325155;17285240;17194541;17000705;16954704;16642439;16174643;16080115;12477932;22694956;20574013;20664794;20664795;20671585;20688737;20385826;19117936;19568762;19661236;19680273;19796758;19797206;19822855;19823576;19845562;19892838;19898184;19933179;19933195;19948975;20007824;20022638;20042647;20140183;20157352;20157618;20238042;20346514;20378180;20381870;20385819;20413980;20456446;20801516;20861866;20881291;20888482;21031019;21236409;21106043;21122828;21191724;21203342;20878164;21252205;21665990;21282580;21397333;21541271;21784201;21896867;23112567;21825189;21855673;22133792;22065928;22138417;22219653;21816153;22232482;23337555;21790300;22035603;22491416;22705344;21959923;22293892;22552255;23494043;22893087;23455636;23098369;23326517;23326481;23111182;22481475;22809783 387715 P0C7Q2 ABBA01062845;AMYH01003135;BC066349;BC090924;BX842242;EU427528;NG_011725;NM_001099667 AAI60152;ACA35288;NP_001093137;P0C7Q2 Hs.120359 ARMD8 OTTHUMP00000235364;age-related maculopathy susceptibility protein 2 APPROVED protein-coding ENSG00000254636 32685 611313 REVIEWED 736413 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Jul 2008] 15 15 q24 78483747 78677333 + 80696692 80890278 + 1580863;631760;6480464;6483352;6907045 12859947;22169972 12239177;17899366;17826745;16381901;15489336;15489334;12477932;12210012;11247670;11230166;11076863;10648817;9205841;14701734;20634891;20706985;11782478;16713569;18711365;19598235;8927054;20211142;21832049;23275444;21945317;16147992;21512513 9915 H0YKW1;Q7Z3A3;Q86TN1;Q9HBZ2 AB002305;ABBA01060624;ABBA01060625;ABBA01060626;ABBA01060627;ABBA01060628;ABBA01060629;AC016705;AC108451;AF185610;AK295763;AMYH01006849;BC029293;BC036099;BC051335;BX538026;BX647212;CH471136;NM_014862 AAG15310;AAH36099;AAH51335;ABM85102;ABM92227;BAA20766;BAG58589;CAD97972;CAL37851;EAW99114;NP_055677;Q9HBZ2 Hs.459070 1665323;1681769;1704112;1708994;1722009;1733646;1751903;1762155;1763451;1765583;1778764;1788714;1794654;1797298;2114896;2132393;2145237;2160067;2164288;2175009;5022200;5022820;5095124 1808;ARNT2,_C.1503+27G>C;ARNT2,_C.2028G>A;ARNT2_2060;D15S1510;D15S614E;D15S823;G59891;L18426;PMC343817P2;RH136634;RH44818;RH48627;RH66360;RH92809;SHGC-105794;SHGC-146049;SHGC-147162;SHGC-149043;SHGC-79562;SHGC-83380;STS-W45696;UniSTS:63083 KIAA0307;bHLHe1 ARNT protein 2;OTTHUMP00000229925;aryl hydrocarbon receptor nuclear translocator 2;class E basic helix-loop-helix protein 1 APPROVED protein-coding ENSG00000172379 16876 606036 REVIEWED 732739 ARNT aryl hydrocarbon receptor nuclear translocator The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1. A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 1 1 q21 149048810 149115810 - 150782181 150849244 - 734608;1580863;634668;2313995;2313996;6480464;6483352;6484113;6907045 10829078;12586752;16096055;18366646;22169972 7539918;8756616;9079689;1317062;1448077;8089148;19416713;19287200;19251700;19203995;19131627;19129502;19030229;19018768;18949049;18676680;18640100;18632753;18568448;18381358;18375543;18174159;17559847;16567799;16554418;16520375;16410262;16364012;16129408;16111650;16084889;16007214;15837795;15492120;15485806;15231748;15190133;14701734;14638687;12774124;12754377;12477932;12354770;12032587;12024042;11879970;11835227;11782478;11768231;11756572;11502749;11393538;11129342;10999956;10777486;10692439;10594042;10395741;9887096;9328285;9271372;9111057;9020169;8940186;8927054;8794892;8384309;8244375;8125298;8065341;7716743;7628454;7488247;1852076;11259606;9712901;12065584;11013261;10471301;15635607;8663540;9113979;9704006;22211302;18029348;18762723;19170196;19625176;19692168;19828131;19850893;20453000;19730683;21298084;20478051;20804916;20508969;8889548;17207965;21081473;19913121;20628086;20634891;20562859;15347669;21199896;21462134;22328528;11259609;21988832;22903824;23275444;21512126;23541582;20049704;21435239;22024478;19390533;21742528;22318606;22387692;21544813;21828933;22037483;22183315;22235307;21983785;15319539;19322201;22306343;22505606;23263486 405 A6NGV6;A8K6P0;B0AZM1;D6RDB3;F8WAP6;P27540 A92931;AB209877;ABBA01049354;ABBA01049355;ABBA01049356;ABBA01049357;ABBA01049358;AF001307;AK223459;AK290177;AK291705;AK293027;AK304772;AK313780;AK315812;AL137290;AL355860;AL834279;AMYH01001383;AMYH01001384;AY430083;BC028362;BC041121;BC060838;BU730937;CH471121;M69238;NG_028248;NM_001197325;NM_001668;NM_178427;Y18500;Y18859 AAA51777;AAC03365;AAH60838;AAQ96598;ADQ33017;BAD93114;BAD97179;BAF82866;BAF84394;BAF85716;BAF98703;BAG36518;BAG65527;CAB65056;CAB69528;CAC21446;CAD38953;EAW53510;EAW53511;EAW53512;EAW53513;EAW53514;NP_001184254;NP_001659;NP_848514;P27540 Hs.632446 1660066;1666356;1683010;1723445;1770700;1797300;1852554;2137707;2175898 ARNT_2212;D1S3204;D1S3284;G15891;RH118541;RH11989;RH93022;SGC30626;WI-16757 HIF-1-beta;HIF-1beta;HIF1-beta;HIF1B;HIF1BETA;TANGO;bHLHe2 HIF-1-beta;HIF1-beta;OTTHUMP00000032943;OTTHUMP00000218217;OTTHUMP00000218218;OTTHUMP00000218219;OTTHUMP00000218220;aryl hydrocarbon receptor nuclear translocator;class E basic helix-loop-helix protein 2;dioxin receptor, nuclear translocator;hypoxia-inducible factor 1, beta subunit;hypoxia-inducible factor 1-beta APPROVED protein-coding ENSG00000143437 700 00524 126110 REVIEWED 732520 ARNTL aryl hydrocarbon receptor nuclear translocator-like The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p15 13255901 13365389 + 13299325 13408813 + 734609;1580863;6480464 11163178 9079689;9616112;9576906;19470168;19328558;19296127;19277210;18663240;18587630;18517031;18430226;18411297;18228528;17994337;17728404;17457720;17274950;16628007;16528748;16507006;16474406;14750904;14702039;14701734;14701732;12897057;12477932;12397359;11875063;11441146;11439184;10531061;21411511;9989497;9704006;9144434;18644859;14645221;21363938;19912323;15193144;19693801;19839995;19861541;19861640;19934327;20072116;20174623;20180986;20368993;20819778;18662547;20222832;20861012;21102462;19913121;20554694;20628086;23129285;22105622;23003921;20446921;21380491;22510946;21799909;22318606;21990077;22217103;21966465;19922678;23584858;23546644;22990020;23358160;23503662;23033538 406 E9PI92;E9PKF0;E9PKG7;E9PKN1;E9PL54;E9PNI4;E9PPV4;E9PRB1;E9PSD2;F8W6J9;H0YER9;O00315 AB000812;AB000813;AB000814;AB000815;AB000816;ABBA01061125;AC016884;AC022878;AF044288;AK095749;AK128317;AK291510;AK315174;AMYH01003399;BC016674;BC031214;BC041129;BE391243;CH471064;D89722;EF015894;NM_001030272;NM_001030273;NM_001178;U51627;U60415 AAB37248;AAC24353;AAC51213;AAH16674;AAH31214;AAH41129;ABM64205;ABZ91992;ADZ15602;BAA19935;BAA19936;BAA19937;BAA19938;BAA19939;BAA19968;BAF84199;BAG37615;BAG53120;EAW68503;EAW68504;EAW68505;EAW68506;EAW68507;EAW68508;EAW68509;EAW68510;EAW68511;EAW68512;EAW68513;NP_001025443;NP_001025444;NP_001169;O00327 Hs.65734 1339434;1340742;1724021;1740815;1775893;1795400;1853745;5491449 ARNTL_1824;D11S1794;D11S4441;D6S1560;MARC_12777-12778:999891099:1;RH119816;RH78096;WI-14129 BMAL1;BMAL1c;JAP3;MGC47515;MOP3;PASD3;TIC;bHLHe5 ARNT-like protein 1, brain and muscle;OTTHUMP00000197997;OTTHUMP00000197998;OTTHUMP00000197999;OTTHUMP00000198000;OTTHUMP00000198001;PAS domain-containing protein 3;aryl hydrocarbon receptor nuclear translocator-like protein 1;bHLH-PAS protein JAP3;basic-helix-loop-helix-PAS orphan MOP3;basic-helix-loop-helix-PAS protein MOP3;brain and muscle ARNT-like 1;class E basic helix-loop-helix protein 5;member of PAS protein 3;member of PAS superfamily 3 APPROVED protein-coding ENSG00000133794 701 03973 602550 REVIEWED 737603 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 12 12 p12.2-p11.2 27377255 27464733 + 27485787 27578746 + 1580863;2314371;2314359;6480464 17728404;16893914 11018023;19470168;18228528;15489334;12477932;12055078;11554928;10964693;10864977;14701734;18663240;19913121;20554694;20628086;19605937;19693801;19839995;20072116;20174623;20180986;20368993;10737800;21658431;15147242;19850743;22198637 56938 H0Y5R1;Q9NS70 AB039921;ABBA01068047;ABBA01068048;AC068794;AC092829;AF231338;AF231339;AF246960;AF246961;AF246962;AF246963;AF256215;AK296706;AMYH01004351;BC000172;BC043511;BC125061;BC125062;BQ774827;CH471094;CV388040;GM828357;NG_030359;NM_001248002;NM_001248003;NM_001248004;NM_001248005;NM_020183 AAF71306;AAF71307;AAG34652;AAH00172;AAI25062;AAI25063;AAL50339;AAL50340;AAL50341;AAL50342;BAB01485;BAH12415;CAV28553;EAW96552;EAW96553;EAW96554;NP_001234931;NP_001234932;NP_001234933;NP_001234934;NP_064568;Q8WYA1 Hs.434269;Hs.445447 1681963;1726087;1726143;5015619;5021874;5022651;5109281 D11S2921;D11S3114;D1S1425;G62259;G62346;RH99013;ha1237 BMAL2;CLIF;MGC149671;MGC149672;MOP9;PASD9;bHLHe6 CYCLE-like factor;OTTHUMP00000240584;OTTHUMP00000240585;OTTHUMP00000240586;OTTHUMP00000240587;OTTHUMP00000240588;OTTHUMP00000240589;OTTHUMP00000240590;OTTHUMP00000240591;PAS domain-containing protein 9;aryl hydrocarbon receptor nuclear translocator-like protein 2;basic-helix-loop-helix-PAS protein MOP9;brain and muscle ARNT-like 2;class E basic helix-loop-helix protein 6;member of PAS protein 9 APPROVED protein-coding 18984 16507 614517 REVIEWED 4890650 ARPC3P2 actin related protein 2/3 complex, subunit 3 pseudogene 2 1 1 1 q32.3 184842175 184842704 + 209682239 209682785 + 211615616 211616145 + 391160 ABBA01048191;AL590101;AMYH01001699;NG_022826 pseudo 39431 INFERRED 4890511 ARPC3P3 actin related protein 2/3 complex, subunit 3 pseudogene 3 11 11 11 q21 91209240 91210024 - 93560898 93561856 - 93921418 93922202 - 729494 ABBA01040034;AMYH01003965;AP002784;NG_021798 pseudo 39432 INFERRED 4890485 ARPC3P4 actin related protein 2/3 complex, subunit 3 pseudogene 4 11 11 70939419 70940187 - 73632504 73633272 - 100421973 ABBA01017500;AMYH01003811;AP002770;NG_024384 pseudo 39434 INFERRED 4890724 ARPC3P5 actin related protein 2/3 complex, subunit 3 pseudogene 5 6 6 6 p22.3 17172922 17173693 + 16042992 16043590 + 15934974 15935745 + 441131 ABBA01022176;AL365265;AMYH01016111;NG_022345 pseudo 39435 INFERRED 1353664 ARPC3P1 actin related protein 2/3 complex, subunit 3 pseudogene 1 20 20 20 q13.13 44455619 44456422 + 47184299 47185298 + 47750988 47751791 + 17353931 87171 ABBA01052735;AL133174;AMYH01011963;NG_002363;NG_029453 1687291 RH98959 ARPC3B;dJ470L14.3 APPROVED pseudo 16092 INFERRED 736395 ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011] 7 7 q22.1 98810265 98830360 + 98972298 98992424 + 631743;1580863;6480464;6484113;6907045 9230079 17353931;16723437;15635413;15489334;15279900;14749719;12853948;12690205;12665801;12477932;12115587;11943145;11741539;11721045;11533442;9359840;9126924;9110174;8619474;11162547;20603326;16344560;22863883;21832049;22939629;21628992;21139048;21890473;21906983;20876399 10095 A4D275;C9J4Z7;C9J6C8;C9JBJ7;C9JEY1;C9JFG9;C9JM51;C9JQM8;C9JTT6;C9K057;F8VXW2;F8WEB3;O15143 AACC02000084;ABBA01013264;ABBA01013265;AC004922;AF006084;AK314818;AMYH01017721;AU143525;AY007111;BC002562;BC002988;BC007555;CH236956;CH471091;NM_005720 AAB64189;AAH02562;AAH02988;AAH07555;ABM83095;ABM86289;BAG37341;EAL23882;EAW76677;EAW76678;EAW76679;EAW76680;NP_005711;O15143 Hs.489284 1663900;1673482;1683475;2133778;2135340 A008N20;GDB:4585391;RH16605;RH47278;RH75270 ARC41;p40-ARC;p41-ARC ARP2/3 protein complex subunit p41;OTTHUMP00000206018;OTTHUMP00000206020;actin related protein 2/3 complex, subunit 1b;actin-related protein 2/3 complex subunit 1B;arp2/3 complex 41 kDa subunit APPROVED protein-coding ENSG00000130429 704 10366 604223 REVIEWED 1344294 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 q22.1 93657670 93698057 + 98761446 98801821 + 98923496 98963885 + 631743;1580863;2317557;6480464;6907045 9230079;19145645 8978670;17353931;17072959;15635413;15489334;12853948;12690205;12477932;9359840;8125298;20570966;21533175;17086175;16344560;22863883;22939629;19322201;21139048;21890473;21906983 10552 B4DLQ7;E9PF58;F8WFD3;Q92747 AACC02000084;AB209059;ABBA01013265;ABBA01013266;ABBA01013267;AC004834;AC004922;AK223015;AMYH01017721;BC006445;BC039594;BC047889;BC054027;BM924483;CH236956;CH471091;DA089818;NM_001190996;NM_006409;Y08999 AAH39594;AAH47889;AAH54027;AAS00381;ACE86776;ACE87462;ADZ15604;BAD92296;BAD96735;CAA70203;EAL23883;EAW76681;EAW76682;EAW76683;NP_001177925;NP_006400;Q92747 Hs.124126 2168965;5020853;5113457 D7S2721;RH11961;SHGC-5612 Arc40;SOP2Hs;SOP2L OTTHUMP00000206032;OTTHUMP00000206034;SOP2-like protein;actin binding protein (Schizosaccharomyces pombe sop2-like);actin-related protein 2/3 complex subunit 1A APPROVED protein-coding ENSG00000241685 703 07252 604220 REVIEWED 5013864 ARPC4-TTLL3 ARPC4-TTLL3 readthrough This locus represents naturally occurring read-through transcription between the neighboring ARPC4 (actin related protein 2/3 complex, subunit 4) and TTLL3 (tubulin tyrosine ligase-like family, member 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 3 p 9834232 9878040 + 12477932;14702039;20967262;21906983 100526693 H7C0A3;P59998 ABBA01020398;ABBA01020399;ABBA01020400;AC018809;AC022382;AK024110;AMYH01012964;BC025289;NM_001198793 BAB14828;NP_001185722 Hs.323342 1778680;1855946;2110003;2180457 RH17932;RH47393;SHGC-33325;TTLL3_9463 FLJ14048 ARPC4-TTLL3 fusion protein;ARPC4-TTLL3 read-through transcript;OTTHUMP00000220174;OTTHUMT00000364820 APPROVED protein-coding ENSG00000250151 38830 VALIDATED 1314126 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 q36.1 218790119 218827316 + 219081874 219119071 + 631743;1580863;6480464;6484113;6907045 9230079 21251247;21319273;22261722;11162547;18836448;18708039;17353931;17350576;16027158;15793564;15635413;15489334;15279900;14702039;12665801;12477932;11741539;11721045;10235267;9359840;8812419;11018051;11882288;18029348;19861958;20308062;20974812;22863883;23148219;22939629;21975549;21139048;21890473;21906983;22188208;16300736;21963094;23000965;23128233;23251661;15146197;23383273;11943145;20603326;20876399;22505724 10109 C9JTV5;G5E9J0;G5E9S7;H7C3F9;O15144;Q53R19 ABBA01023875;ABBA01023876;AC021016;AC097483;AF006085;AF279893;AK092520;AK093625;AK290268;AMYH01011494;BC000590;BG282181;BG765898;BT006898;CH471063;CN291458;NM_005731;NM_152862;U50523 AAB64190;AAC50874;AAH00590;AAK07550;AAP35544;AAX93213;BAF82957;EAW70591;EAW70592;EAW70593;EAW70594;EAW70595;EAW70596;EAW70597;NP_005722;NP_690601;O15144 Hs.529303 1767437;1797074;2137663;2184289;5016478;5022322;5024756 ARPC2_(3);D11S2560;D2S2896;G16343;GDB:434012;RH80030;STS-U50523 ARC34;PNAS-139;PRO2446;p34-Arc ARP2/3 protein complex subunit 34;OTTHUMP00000164144;OTTHUMP00000165866;actin-related protein 2/3 complex subunit 2;arp2/3 complex 34 kDa subunit APPROVED protein-coding ENSG00000163466 705 10367 604224 REVIEWED 6481301 ARPP21-AS1 ARPP21 antisense RNA 1 100874098 AC016943 APPROVED miscrna 40785 1323728 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p21 subunit, has yet to be determined. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 110499460 110514921 - 109357089 109372541 - 110872706 110888158 - 631743;1580863;6480464;6484113;6907045 9230079 17353931;16169070;15793564;15635413;15489334;12665801;12477932;11790298;11741539;11721045;11162547;11146629;9359840;9000076;21251247;11018051;9889097;17207965;22863883;23148219;22939629;12769847;18781797;21900206;21987572;21139048;21890473;21906983;22053931;22505724;19738201;21963094;22623428;23000965 10094 C9JZD1;F8VR50;O15145 ABBA01005107;ABBA01005108;ABBA01005109;AC144548;AF004561;AF006086;AI144468;AK297309;AK311789;AMYH01004743;BC067747;BC078162;BF434378;BG723870;BM999380;CH471054;CR407667;DQ328220;NM_001278556;NM_005719 AAB61466;AAB64191;AAH67747;AAH78162;ABC59627;ADQ32064;BAG34732;BAG59775;CAG28595;EAW97912;EAW97913;NP_001265485;NP_005710;O15145 Hs.524741 1687291;2168606 RH48745;RH98959 ARC21;p21-Arc ARP2/3 protein complex subunit p21;OTTHUMP00000166104;OTTHUMP00000166106;actin-related protein 2/3 complex subunit 3;arp2/3 complex 21 kDa subunit APPROVED protein-coding ENSG00000111229 706 09175 604225 REVIEWED 1320803 ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010] 3 3 p25.3 9809227 9823789 + 9834179 9848789 + 631743;6480464;6484113;6907045 9230079 17274980;16169070;15635413;15489334;14702039;12665801;12477932;11741539;11721045;9359840;17353931;12451597;11162547;11018051;18805923;20404198;20959098;16344560;22863883;23148219;23106098;22939629;21139048;21906983;12769847;18781797;21987572;19738201;19805454;21890473;21963094;22623428;23000965;16300736;19322201;23267127;20876399;22505724 10093 F8WCF6;F8WDD7;F8WDW3;F8WE39;P59998;R4GN08 ABBA01020399;ABBA01020400;AC022382;AF006087;AF019888;AI612891;AK074205;AMYH01012964;AW408422;BC012596;BC065423;BG938423;BI768875;BI910730;BM045872;BQ688329;BX419672;CH471055;DA226584;DA909066;DB060690;NM_001024959;NM_001024960;NM_001198780;NM_005718 AAB64192;AAB71548;AAH12596;AAI52791;EAW64001;NP_001020130;NP_001020131;NP_001185709;NP_005709;P59998 Hs.323342 2157666;2161323 RH65849;SHGC-76697 ARC20;MGC13544;p20-Arc Arp2/3 protein complex subunit p20;OTTHUMP00000165252;OTTHUMP00000207518;OTTHUMP00000207520;OTTHUMP00000233907;actin-related protein 2/3 complex subunit 4;arp2/3 complex 20 kDa subunit APPROVED protein-coding ENSG00000241553 707 10368 604226 REVIEWED 1323427 ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 1 1 1 q25.3 156706364 156716017 - 181861955 181871608 - 183595328 183605076 - 631743;1580863;6480464;6484113;6907045 9230079 15146197;21281821;22089643;22378351;17353931;9359840;16710414;15489334;14702039;12829704;12665801;12477932;11741539;11721045;11162547;10508170;12451597;19615732;17207965;22939629;22863883;23148219;17620599;21139048;21890473;21906983;19322201;20876399;22505724 10092 B1ALC0;O15511 ABBA01027747;AF006088;AF017807;AI148784;AK095424;AK129598;AL137800;AMYH01001553;BC057237;BC071857;BI758106;CH471067;CN291383;NM_001270439;NM_005717 AAB64193;AAB70561;AAH57237;AAH71857;AAI52790;ADQ32213;BAG53053;EAW91163;EAW91164;NP_001257368;NP_005708;O15511 Hs.518609 1653221;1667009;1676926;1690320;1849758 RH12696;RH76379;RH78011;SHGC-56746;SHGC-75978 ARC16;MGC88523;dJ127C7.3;p16-Arc Arp2/3 protein complex subunit p16;OTTHUMP00000033266;OTTHUMP00000033267;OTTHUMP00000038626;actin-related protein 2/3 complex subunit 5;arp2/3 complex 16 kDa subunit APPROVED protein-coding ENSG00000162704 708 11969 604227 REVIEWED 1606318 ARPP19 cAMP-regulated phosphoprotein, 19kDa The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011] 15 15 15 q21.2 29734478 29756262 - 50626724 50648505 - 52839432 52861213 - 6480464 9653196;15489334;14702039;12477932;11771749;11279279;10754390;8687439;8120638;2160982;20098747;20471941;21164014;21509594;17893145;21832049;19322201 10776 H3BMD8;H3BQ52;H3BTD3;P56211 ABBA01039060;ABBA01039061;AC025917;AF084555;AJ223091;AK023195;AK123616;AK311751;AL833077;AMYH01006653;AW407610;BC003418;BC100015;BQ422616;CH471082;CR457132;NM_006628 AAD52044;AAH03418;AAI00016;BAG34694;CAA11115;CAD89929;CAG33413;EAW77454;EAW77455;NP_006619;P56211 Hs.600029 1664249;1682898;1694614;1734836;1774976;1778983;1856137;5020948;5022200;5022450 D10S275;D15S1182;D1S2237;D2S1588E;G35510;G43323;L18426;RH44327;RH46469;STS-AA040764 ARPP-16;ARPP-19;ARPP16;ENSAL;FLJ41622 cAMP-regulated phosphoprotein 19;cyclic AMP phosphoprotein, 19 kD;endosulfine alpha-like APPROVED protein-coding ENSG00000128989 16967 09264 605487 VALIDATED 1318888 ARPC5L actin related protein 2/3 complex, subunit 5-like 9 9 9 q33.3 98279433 98287649 + 126671305 126679517 + 127631484 127639696 + 1580863;6480464;6907045 12451597;17353931;17081983;16169070;15489334;15164053;14702039;12477932;17207965;22863883;22939629;21139048;21693764;21906983;21987572;17620599 81873 Q9BPX5 ABBA01043758;AF087842;AK056174;AK315604;AL354928;AMYH01021708;BC000018;BC000798;BC002418;BC031388;CH471090;NM_030978 AAH00018;AAH00798;AAH02418;AAP97155;ADQ33175;BAG51639;EAW87603;EAW87604;NP_112240;Q9BPX5 Hs.132499 1657352;1851588;2148220;2186971;2186973 G19389;RH1557;RH41807;SGC32156;WI-20843 ARC16-2;MGC3038 OTTHUMP00000022110;OTTHUMP00000022111;actin-related protein 2/3 complex subunit 5-like protein;arp2/3 complex 16 kDa subunit 2 protein-coding 23366 12490 PROVISIONAL 1350252 ARR3 arrestin 3, retinal (X-arrestin) X X cen-q21 69404910 69418415 + 69488185 69501690 + 1580863;724592;6480464;6893539;6893556;6484113 11934883;22074925;21824527 22378779;8224247;19001375;18802075;17680991;17353931;16189514;15772651;15489334;12918707;12853434;12850288;12824223;12486395;12477932;11877451;11729201;11063754;9931451;9852134;9827808;8612728;8308033;16169070;20460384;17947233;20056609;21203429;22242112;20505072;21118812;21466165;17620599;22523077;23139825;9169477 407 D6RCT3;P36575 ABBA01067552;ABBA01067553;ABBA01067554;AF033105;AF076512;AL357752;AMYH01022525;AMYH01022526;BC012096;BG472156;CH471132;CR456849;EU883571;NM_004312;U03626 AAB84302;AAC27524;AAC78395;AAH12096;ABM83169;ABM86370;ACG60645;CAG33130;EAX05348;EAX05349;EAX05350;EAX05351;NP_004303;P36575 Hs.308 1772605;1848407;2147556 DXS7111;L77849;SHGC-30005 ARRX C-arrestin;OTTHUMP00000023466;OTTHUMP00000023467;X-arrestin;arrestin 4;arrestin-C;cArr;cone arrestin;retinal cone arrestin-3 protein-coding ENSG00000120500 710 02358 301770 VALIDATED 1320585 ARRDC1 arrestin domain containing 1 9 9 9 q34.3 111023757 111033473 + 139619917 139629633 + 140500096 140509812 + 737633;6480464 12477932 15489334;15164053;14702039;22315426;21191027;21832049;21139048 92714 F2Z3I4;Q5T370;Q5T371;Q8N5I2 AA552336;AB209523;ABBA01022779;AJ420420;AK001822;AK308376;AL365502;AL542109;AMYH01021914;BC032346;CH471090;CR627251;NM_152285 AAH32346;ADZ15345;BAD92760;EAW88403;EAW88404;EAW88405;NP_689498;Q8N5I2 Hs.12999 1670730;1779167;2128682;5014051;5015619;5016478;5020946;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;GDB:434012;L17971;L18426;STS-H18962;STS-N91817;STS-R41874 MGC40555;RP11-48C7.5 OTTHUMP00000022707;OTTHUMP00000022709;arrestin domain-containing protein 1 protein-coding ENSG00000197070 28633 12491 VALIDATED 1606317 ARPP21 cAMP-regulated phosphoprotein, 21kDa This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 3 3 3 p22.3 35625833 35777956 + 35658853 35810992 + 35680666 35835988 + 6480464 15489334;15144186;14702039;12477932;10931946;8889548;8120638;19734545;20379614;17207965;21116278;15499021;21044950;10854908;16344560 10777 A8K0T4;A8K1F3;AAB30130;C9J091;C9J2U3;C9J5R1;C9JD93;C9JI74;C9JQQ6;C9JTF2;C9JTX6;F8WDL2;H7C0P9;H7C1B6;H7C2X8;H7C3J7;Q9UBL0 ABBA01024877;AC016943;AC104308;AC133143;AF112220;AK055064;AK091377;AK093648;AK289649;AK289868;AK294484;AL133109;AMYH01013082;AV718064;AV718166;BC017805;BC031106;BC036399;BC036548;BC041385;BC051828;BC066651;BG535216;BQ423297;BU741999;BX488342;BX537647;CH471055;DA275579;NM_001025068;NM_001025069;NM_001267616;NM_001267617;NM_001267618;NM_001267619;NM_016300;NM_198399 AAB30130;AAF17207;AAH17805;AAH31106;AAH36399;AAH41385;AAH51828;AAH66651;ACE86449;ACE87125;ADQ32260;BAF82338;BAF82557;BAG51459;BAG57707;CAB61414;EAW64470;EAW64471;EAW64472;NP_001020239;NP_001020240;NP_001254545;NP_001254546;NP_001254547;NP_001254548;NP_057384;NP_938409;Q9UBL0 Hs.475902 1651868;1653307;1667713;1680579;1697418;1721613;1735078;1739039;1773530;1787784;1788926;1854115;2156220;5123929 D3S2765E;D3S3241;G59816;RH102209;RH71422;RH79954;SHGC-173166;SHGC-32030;SHGC-76804;SHGC-76823;SHGC-76827;UniSTS:224247;WI-10468;WI-16264 ARPP-21;FLJ32997;R3HDM3;RCS;TARPP OTTHUMP00000161358;OTTHUMP00000208635;OTTHUMP00000208636;OTTHUMP00000208637;OTTHUMP00000208638;OTTHUMP00000208639;OTTHUMP00000208640;OTTHUMP00000208641;OTTHUMP00000208646;OTTHUMP00000208647;OTTHUMP00000208648;OTTHUMP00000208649;OTTHUMP00000208651;OTTHUMP00000208652;OTTHUMP00000208653;OTTHUMP00000208654;OTTHUMP00000208656;OTTHUMP00000208657;OTTHUMP00000208658;R3H domain containing 3;cAMP-regulated phosphoprotein 21;cyclic AMP-regulated phosphoprotein, 21 kD;thymocyte cAMP-regulated phosphoprotein APPROVED protein-coding ENSG00000172995 16968 09265 605488 REVIEWED 1353583 ARRDC5 arrestin domain containing 5 19 19 19 p13.3 4827460 4839887 - 4841449 4853879 - 4890449 4902879 - 6480464 12886014 645432 A6NEK1 ABBA01056034;ABBA01056035;ABBA01056036;AC027319;AMYH01009348;AMYH01009349;NM_001080523 A6NEK1;NP_001073992 Hs.574574 arrestin domain-containing protein 5 protein-coding ENSG00000205784 31407 PROVISIONAL 1348140 ARRDC3 arrestin domain containing 3 5 5 5 q14.3 86566595 86581203 - 90700297 90714877 - 90664541 90679149 - 737633;6480464 12477932 16344560;16269462;15489334;10718198;19605364;20306291;17207965;20559325;20603614;23236378;21652578;21191027;21982743;22589738;23208550;23319801 57561 Q96B67 AB037797;ABBA01062168;ABBA01062169;AC008799;AK025028;AK026917;AK291753;AMYH01015480;BC015928;BC053619;CH471084;CS300561;DA110572;NM_020801 AAH15928;AAH53619;ADQ32737;BAA92614;BAF84442;CAK32225;EAW95997;NP_065852;Q96B67 Hs.24684 1735472;2165120;2170159 Bdy70c06;D5S1593E;STS-R33609 KIAA1376;TLIMP OTTHUMP00000222400;TBP-2-like inducible membrane protein;arrestin domain-containing protein 3;thioredoxin-binding protein-2-like inducible membrane protein-coding ENSG00000113369 29263 09810 612464 VALIDATED 1320117 ARRDC2 arrestin domain containing 2 19 19 19 p13.11 18013652 18026620 + 17972944 17985911 + 18111944 18124911 + 6480464 15498874;15489334;14702039;12477932;9110174;8619474;21191027 27106 Q8TBH0 ABBA01051243;ABBA01051244;AC020904;AF131826;AF193051;AK000689;AK127940;AK128588;AK314657;AMYH01009582;AMYH01009583;AMYH01009584;BC022516;BQ940909;CH471106;NM_001025604;NM_015683 AAD20053;AAG22479;AAH22516;BAC87200;BAG37216;EAW84648;EAW84649;EAW84650;EAW84651;NP_001020775;NP_056498;Q8TBH0 Hs.515249 1778714 RH78495 CLONE24945;PP2703 arrestin domain-containing protein 2 protein-coding ENSG00000105643 25225 12492 VALIDATED 1350901 ARSC2 arylsulfatase C, isozyme F 1690506;6586638 413 716 301780 732370 ARRB1 arrestin, beta 1 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011] 11 11 q13 74654130 74740521 - 74971166 75062875 - 1580863;1578803;4140419;5133417;5147673;5509893;5509888;5509867;5509895;6480464;6907045;7207059;5135529;7207469;7207060 15514408;18268361;16304060;16918397;21066892;21232674;22015551;20965243;22192592;19229505;20703892;15637145 21479985;16709866;16670094;16580177;16492667;16432186;16407241;16319069;16280323;16189514;16181421;15878855;15699339;15611106;15498833;15489334;15489220;15125834;15084596;14711824;14709160;12582207;12538596;12477932;12464600;12399592;12393857;12220636;12105416;12065593;12020767;11867621;11742073;11726668;11579203;11533043;11278883;11259507;11170396;10973280;10862778;10770944;10753943;10347182;10347142;10196135;9827808;9668034;9501202;9388255;9169477;8889548;8885248;8486659;7896272;18544533;11356842;14500724;11777907;2163110;17353931;17620599;9924018;10823817;19306926;18940181;18775329;18768750;18729826;18703513;18678875;18534983;18276584;17947233;17890288;17623778;17579607;17436063;17377064;17272726;17008309;20353998;10521508;10644702;11031247;11252894;11694590;15173580;16051150;16325578;16378096;16611986;17900862;19153083;19262695;19279230;19363159;19404096;19453261;19509284;19609003;19661922;19879840;20086095;20353754;20379614;20855896;20956518;17207965;16344560;20650893;20936779;20717968;20725137;21502318;20801186;21081496;21233215;21212384;16778767;20448034;22961449;21642958;11588219;22101011;21589858;23418490;20505072;21466165;21857681;21795688;20360068;21243522;19372219;22106258;22267743;21685944;21044950;21378163;17500066;23317236;23589893;23449980;16524428;17498700;18787115;19202075;21988832;23236378;19782076;23400010;23582260;22871966;22487268 408 B7Z1Q3;E9PM35;H0YD81;H0YDS1;H0YEQ2;H0YET9;J3KPP7;P49407 ABBA01017469;ABBA01017470;ABBA01017471;AF084040;AF084940;AK074660;AK289718;AK293758;AL157484;AMYH01003814;AP000744;AP001972;BC003636;BM681392;BQ883950;BU594296;BX402200;CB853136;CD365891;CH471076;CR735690;DA358665;DQ314865;FJ348262;L04685;NG_028118;NM_004041;NM_020251 AAA35558;AAA35559;AAC33295;AAC34123;AAH03636;ABC40724;ACI96306;ADQ31775;BAF82407;BAH11589;EAW74960;EAW74961;EAW74962;NP_004032;NP_064647;P49407 Hs.503284;Hs.625320 1339457;1690183;1772014;1775578;1775657;1775808;1853052;2122714;2154160;2182745;5019659;5024413;5037552 A009B14;D11S1007;D11S4555;D17S1790;D8S2279;G31124;G32376;L17877;STS-M78804;WI-15243;WI-16137;WI-20596;WI-21016 ARB1;ARR1 OTTHUMP00000229765;OTTHUMP00000229766;OTTHUMP00000229801;arrestin 2;arrestin beta-1;beta-arrestin;beta-arrestin-1 APPROVED protein-coding 711 00146 107940 REVIEWED 731570 ARRB2 arrestin, beta 2 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 17 17 p13 4560538 4571544 + 4613789 4624795 + 1580863;734975;4140419;5133417;5147673;5509867;5509890;5509895;6480464;6484113;6907045;5135529;7207059;7207469;7207060 12032308;18268361;16304060;16918397;22015551;21167192;20965243;19229505;22192592;20703892;15637145 17353931;17620599;12958365;9346876;19458261;19453261;19416857;19363159;19306926;19279230;19239323;19219857;19188335;19171933;19071087;19049562;19008961;18940181;18937294;18802075;18801735;18768750;18703513;18691971;18621717;18435604;18408005;18039931;18036556;18006496;17984062;17978999;17761157;17713785;17579607;17565992;17540773;17377064;17272726;17256744;17233643;17038311;17005854;16968782;16894395;16820410;16689683;16605244;16580177;16513835;16308565;16181421;16103897;16038799;15888437;15817468;15728711;15699339;15699045;15687500;15635042;15634674;15626751;15618519;15528268;15489334;15489220;15364949;15361545;15355986;15231748;15125834;14769794;14711824;14702039;12958364;12949261;12654503;12582207;12538596;12488444;12477932;12473660;12464600;12370187;12186555;12105416;12070169;11877451;11867621;11729201;11588219;11535606;11533043;11356842;11279203;11259507;11226259;11090355;10858453;20864483;21258807;10644702;10097102;9668034;9037196;8486659;7695743;1587386;1517224;18544533;17947233;16169070;14500724;22369787;20457218;20936779;20035620;20497256;15173580;15611106;15878855;16051150;16325578;16378096;16611986;18604210;19531493;19730683;19794961;19846537;19874574;20056609;20478633;20514076;20228252;20505072;20656684;15782195;20734064;21296876;21256133;21152433;12574160;20801186;21081496;21306178;21321125;21378163;21466165;19424180;20100572;21642958;21644508;21389118;21589858;23527545;23782696;22242112;21645452;21708946;21952200;18191226;19165858;19372219;20360068;21833475;22006018;22472784;21502318;21890473;21906983;22610101;19262695;19782076;23208550;17500066;21318602;16524428;18787115;19060904;19202075;21988832;23188799;9169477;22333895;22773819;18445652;22562249;23069267;23341447;23449980;22523395;23139825;17855543;22190034;22735336;22871966;12393857;23077507;23236378;23297229;23382074 409 I3L0V6;I3L1M6;I3L412;K7EL17;K7ENA6;Q59EM5;Q68DZ5;Q6ICT3 AB209786;ABBA01054772;AC091153;AF106941;AK097542;AK290951;AK297059;AK297181;AMYH01008042;BC007427;BC039066;BC067368;BC095450;BG723452;CH471108;CR450310;CR749218;DQ314866;DQ664180;EU883572;NM_001257328;NM_001257329;NM_001257330;NM_001257331;NM_004313;NM_199004;NR_047516;Z11501 AAC99468;AAH07427;AAH67368;ABC40725;ABG47460;ABM84152;ABM87555;ABW03579;ACG60646;BAC05094;BAD93023;BAF83640;BAG59581;BAG59672;CAA77577;CAG29306;CAH18075;EAW90419;EAW90420;EAW90421;EAW90422;NP_001244257;NP_001244258;NP_001244259;NP_001244260;NP_004304;NP_945355;P32121 Hs.435811 1733410;2107857;2175314;2181033 ARRB2_8210;D17S1272;RH18345;WI-11146 ARB2;ARR2;BARR2;DKFZp686L0365 OTTHUMP00000115951;arrestin 3;arrestin beta-2;beta-arrestin-2 APPROVED protein-coding ENSG00000141480 712 00147 107941 REVIEWED 6768919 ARRDC3-AS1 ARRDC3 antisense RNA 1 5 q14.3 90676164 90716532 + 12477932 100129716 ABBA01062168;ABBA01062169;AC008799;AMYH01015480;BC043415;NR_027435 Hs.116364 2122948 D21S1450 APPROVED miscrna 44145 VALIDATED 1323388 ARRDC4 arrestin domain containing 4 15 15 15 q26.3 74920256 74933391 + 96304947 96318064 + 98503933 98517068 + 737633;6480464 12477932 18307387;16368877;16344560;15489334;14702039;19605364;20634892;21890473;23236378 91947 A8K2F6;F5H824;Q8NCT1 AA872967;ABBA01032403;AC024651;AK026436;AK093364;AK290221;AK296448;AK316280;AMYH01006959;BC028704;BC038453;BC070100;BY797927;CH471101;DB089068;NM_183376 AAH28704;AAH70100;BAF82910;BAG52696;BAG59099;BAH14651;EAX02213;EAX02214;NP_899232;Q8NCT1 Hs.6093 1646033;2139047;2183806;5017491 A002R32;A008T31;ARRDC4;D15S1330 FLJ36045 OTTHUMP00000194782;arrestin domain-containing protein 4 protein-coding ENSG00000140450 28087 10664 VALIDATED 5488918 ARSD-AS1 ARSD antisense RNA 1 X 2822945 2824188 + 100506356 XR_110924;XR_113297 1665570;2159978 RH1702;RH36003 APPROVED miscrna 40085 1343522 ARSDP1 arylsulfatase D pseudogene 1 Y Y Y q11.21 1451726 1485439 + 12984669 13009311 + 14474762 14499204 + 12815422;8845834;18021436 10034 ABBA01065658;ABBA01065659;ABBA01065660;ABBA01065661;AC002992;NG_000881 1678571;2188293;2188301;5017965;5022822;5095126;5095128;5095130;5095132;5095134;5117672 ARSDP-10;ARSDP-2;ARSDP-3;ARSDP-4;ARSDP-7;ARSDP-8;ARSDP-9;G66179;G66183;GDB:595531;RH38684 ARSDP;ARSDY1 APPROVED pseudo 718 INFERRED 1353090 ARSFP1 arylsulfatase F pseudogene 1 Y Y Y q11.21 1344930 1350665 - 14373004 14378739 - 14373004 14378739 - 12815422 23757 ABBA01065675;ABBA01065676;ABBA01065677;AC004772;NG_002804 1341229;1711432 DXS1233;G42673 ARSFP APPROVED pseudo 722 INFERRED 1344063 ARSEP1 arylsulfatase E pseudogene 1 Y Y Y q11.21 1429956 1445213 + 12962892 12978353 + 14452985 14468246 + 12815422;8845834 10033 ABBA01065662;ABBA01065663;ABBA01065664;ABBA01065665;AC002992;NG_000880 1680248;1682069;2106953 ARSE_7749;RH66804;RH75499 ARSEP APPROVED pseudo 720 INFERRED 1605805 ARSH arylsulfatase family, member H Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] X X X p22.33 7204898 7231677 + 2934654 2961426 + 2924654 2951426 + 16174644 347527 Q5FYA8 ABBA01038637;ABBA01038638;ABBA01038639;ABBA01038640;ABBA01038641;ABBA01038642;AC112653;AMYH01022015;AY875940;CH471074;NM_001011719 AAI48493;AAI53086;AAW66668;EAW98721;NP_001011719;Q5FYA8 Hs.351533 1768888 DXS2503 sulfatase ASH;OTTHUMP00000215984;arylsulfatase H APPROVED protein-coding ENSG00000205667 32488 16509 300586 VALIDATED 737370 ARSB arylsulfatase B Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q14.1 78108788 78318113 - 78073032 78282357 - 1599228;1580863;6480464;7240710 1550123 2303452;1718978;19084217;18406185;18299243;18285341;17643332;17458871;17324393;16435196;14974081;12477932;11802522;11668612;10738004;10036316;9582121;9032078;8889548;8723688;8651289;8541342;8125475;8116615;7687847;7628016;6767391;4215420;1968043;1930244;1390929;1301949;18486607;19306108;19346317;19668339;20379614;19913121;20628086;21378286;22079206;21182205;22550062;21996138;19322201;22428001;23023219 411 A8K4A0;E5RHC4;P15848 ABBA01062000;ABBA01062001;ABBA01062002;AC020937;AC025755;AC099485;AC114963;AI244301;AI457798;AI821478;AK026942;AK290865;AK314903;AL135624;AMYH01015434;AMYH01015435;AMYH01015436;AMYH01015437;AW236748;BC029051;BC036609;BM664932;BQ216635;BQ775217;BX350102;BX364854;BX369127;CH471084;J05225;M32373;NG_007089;NM_000046;NM_198709;S57777;X72735 AAA51779;AAA51784;AAB19988;AAH29051;BAF83554;BAG37417;CAA51272;EAW95821;EAW95822;EAW95823;NP_000037;NP_942002;P15848 Hs.149103;Hs.604199 1646104;1647740;1659571;1729309;1741283;1749559;1753019;1761579;1777765;1847559;2128471;2219008;5020740;5024413 ARSB_4330;D5S1447;G64197;GDB:180337;L17809;L17877;RH16224;SHGC-111259;SHGC-12391;SHGC-145581;SHGC-34810;SHGC-36383;SHGC-77871;STS-M32373 ASB;G4S;MPS6 N-acetylgalactosamine-4-sulfatase;OTTHUMP00000135268;OTTHUMP00000222674;arylsulfatase B APPROVED protein-coding ENSG00000113273 714 08358 253200;611542 REVIEWED 1353523 ARSD arylsulfatase D The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011] X X X p22.3 7102252 7127631 - 2832011 2857392 - 2822011 2847416 - 1580863;6480464 7720070;14702039;12477932;11177574;11027669;8845834;16344560;14699613;9192838;9246409;22820137 414 H0YMY1;H7C327;P51689 ABBA01012567;ABBA01038623;ABBA01038624;ABBA01038625;ABBA01038626;ABBA01038627;AC005295;AF160499;AI289224;AK021472;AK055239;AK314479;AMYH01022015;BC020229;BC080179;CH471074;DA869167;NG_012495;NM_001669;X83572 AAF22253;CAA58555;EAW98713;EAW98714;EAW98715;EAW98716;NP_001660;P51689 Hs.528631 1665570;1678571;1728899;2118395;2159978;5016781;5117672;5117897 G42687;GDB:595531;GDB:631813;RH1702;RH36003;RH38684;RH66803;SHGC-67307 ASD ASD;OTTHUMP00000022848;OTTHUMP00000022849;arylsulfatase D APPROVED protein-coding ENSG00000006756 717 02048 300002 REVIEWED 1321256 ARSA arylsulfatase A The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010] 22 22 q13.33 49410315 49413473 - 51061182 51066601 - 1358434;1599223;1358435;1580863;6480464;6907045;7240710 15026521;7901316;15375602 14702039;12888274;12788103;12477932;12473917;12459318;12081727;11941485;11857580;11777924;11456299;11333871;11124905;11061266;10591208;10493829;10359658;10220151;9888390;9744473;9668161;9600244;9521684;9490297;9090526;8723680;8104633;8101083;8101038;8095918;7981715;7909527;7906588;7902317;7866401;7860068;7858169;7833949;7825603;7815433;7628016;7581401;2562955;18029348;19262745;19224915;19054018;19021637;18768108;18693274;18248830;17845130;17660863;17560502;17329011;16782379;16678723;16344560;16341674;16311251;16140556;16110195;15772092;15710861;15489334;15461802;15342556;15188402;15146197;7192199;2574462;1975241;1684088;1678251;1676699;1674719;1673291;1670590;1357970;1353340;1352993;1352356;36611;21265945;21454621;14571263;15962010;19606494;8889548;20301309;21167507;21648305;23247813;21695197;21988832;23209833;18624398;21966540 410 B4DVI5;P15289 AB448736;ABBA01042619;ABBA01042620;AK092752;AK098659;AK301098;AK315011;AMYH01012918;AY271820;BC014210;BI770997;BM818814;BP306351;BQ184813;BU632196;BX648618;CA423492;CH471138;CN409235;CR456383;DA844740;DB028013;NG_009260;NM_000487;NM_001085425;NM_001085426;NM_001085427;NM_001085428;U62317;X52150;X52151 AAB03341;AAH14210;AAP03431;ABM83843;ABM87165;ACE87001;ACE87690;BAG37503;BAG62697;BAH11167;CAA36398;CAA36399;CAG30269;CAH56144;CAK54372;CAK54671;EAW73582;EAW73583;NP_000478;NP_001078894;NP_001078895;NP_001078896;NP_001078897;P15289 Hs.731715;Hs.88251 1679105;1744247;1744541;1792992;5016596;5117899 GDB:438542;GDB:512802;GDB:631802;GDB:631842;PMC18051P1;RH27787 MLD ASA;OTTHUMP00000196544;OTTHUMP00000196545;OTTHUMP00000196546;OTTHUMP00000196547;OTTHUMP00000196548;arylsulfatase A;cerebroside-sulfatase APPROVED protein-coding 713 09617 250100;607574 REVIEWED 1312633 ARSE arylsulfatase E (chondrodysplasia punctata 1) Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. [provided by RefSeq, Jul 2008] X X p22.3 2862673 2892494 - 2852673 2882494 - 1580863;1599238;6480464;7240710 9409863 9192838;7720070;18348268;12567415;11177574;9497243;8845834;8125298;16169070;12477932;20301713;21998595;22021425 415 C9J5G7;F5GYY5;F5H324;P51690 ABBA01038628;ABBA01038629;ABBA01038630;ABBA01038631;AC005295;AK223183;AK223199;AK293648;AK301004;AK313093;AMYH01022015;AW779826;BC130438;CH471074;NG_007091;NM_000047;X83573 AAI30439;ADR83078;BAD96903;BAD96919;BAG35917;BAH11556;BAH13390;CAA58556;EAW98717;EAW98718;EAW98719;EAW98720;NP_000038;P51690 Hs.386975 1680248;1682069;1728901;2106953;5016532 ARSE_7749;G42688;GDB:595763;RH66804;RH75499 ASE;CDPX;CDPX1;CDPXR;MGC163310 ASE;OTTHUMP00000022851;arylsulfatase E;chondrodysplasia punctata 1 APPROVED protein-coding ENSG00000157399 719 02171 300180;302950 REVIEWED 1344739 ARSF arylsulfatase F This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011] X X X p22.3 7264010 7309722 + 2994853 3040747 + 2958275 3030770 + 1580863 9192838;18029348;15489334;12477932;9685421;9229115;7720070;15342556;16344560 416 P54793 ABBA01038644;ABBA01038645;ABBA01038646;ABBA01038647;ABBA01038648;ABBA01038649;ABBA01038650;ABBA01038651;ABBA01038652;ABBA01038653;ABBA01038654;ABBA01038655;AC112653;AMYH01022016;BC022389;BP274206;BP277542;BQ228278;BX107362;CH471074;DA156994;DA628671;NG_012822;NM_001201538;NM_001201539;NM_004042;X97868 AAH22389;CAA66462;EAW98722;NP_001188467;NP_001188468;NP_004033;P54793 Hs.101674 1743597;1779264;2153461 G30983;GDB:359851;SHGC-153192 ASF OTTHUMP00000022857;OTTHUMP00000022858;arylsulfatase F APPROVED protein-coding ENSG00000062096 721 02049 300003 REVIEWED 1602225 ARSG arylsulfatase G The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 17 17 17 q24.2 62826927 62988567 + 63815191 63928595 + 66255323 66417000 + 6480464 10231032;12461688;16174644;18283100;15489334;12975309;12477932;19960030;20379614 22901 J3KS49;J9JIG6;Q96EG1 AB023218;ABBA01028960;ABBA01028961;ABBA01028962;ABBA01028963;ABBA01028964;AC005332;AC007780;AK311327;AMYH01008588;AMYH01008589;AY358380;BC012375;BG700864;CH471099;NG_032814;NM_001267727;NM_014960 AAH12375;AAQ88746;BAA76845;EAW89055;EAW89056;NP_001254656;NP_055775;Q96EG1 Hs.437249 1669646;1675738;1697228;1729853;1796786;1847881;2173350 D17S694;G19285;RH102108;RH80612;SLC16A6_835;STS-N33189;STS-N51941 KIAA1001 ASG;arylsulfatase G APPROVED protein-coding 24102 13826 610008 REVIEWED 1350034 ART2P ADP-ribosyltransferase 2 (RT6 antigen homolog, rat), pseudogene 11 11 11 q13 69533947 69534636 + 71909643 71910332 + 72231995 72232684 + 6480464 8812442;8005606;7966280;20210993 418 ABBA01017537;AMYH01003794;AP003785;AP005019;NG_001076;X65050 ART1P;RT6 APPROVED pseudo 724 INFERRED 1604953 ARSI arylsulfatase family, member I Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q32 145757304 145763920 - 149656970 149662129 - 149675909 149682525 - 6480464 16174644;19262745;16500042;16344560;15146197;14702039;12477932 340075 D6RDH0;Q5FYB1 AB448735;ABBA01026281;ABBA01026282;AC011372;AK122641;AMYH01015706;AY875937;BC111002;BC129995;BC129996;CH471062;CN369733;CQ866756;DA264664;DA759270;NM_001012301 AAI29996;AAI29997;AAW66665;BAG53634;BAH11166;CAH25968;EAW61740;NP_001012301;Q5FYB1 Hs.591252 1652046 RH45058 FLJ16069 ASI;OTTHUMP00000224046;arylsulfatase I APPROVED protein-coding ENSG00000183876 32521 16510 610009 VALIDATED 1606445 ARSK arylsulfatase family, member K Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 5 5 5 q15 90769262 90819241 + 94916581 94966562 + 94890825 94940806 + 6480464 16500042;16174644;15489334;12975309;12477932 153642 D6R9F9;D6RBR4;E9PGI0;H0Y9F6;Q6UWY0 ABBA01069250;ABBA01069251;AC008547;AC090071;AK303855;AK316253;AL832711;AMYH01015490;AY358596;AY875939;BC036047;BC050392;BC130329;BC144160;BC144161;CH471084;CQ866752;NM_198150 AAH36047;AAH50392;AAI30330;AAQ88959;AAW66667;ADR83046;BAG64796;BAH14624;CAD38634;CAH25966;EAW96039;EAW96040;NP_937793;Q6UWY0 Hs.585051 5037552 D8S2279 DKFZp313G1735;TSULF ASK;OTTHUMP00000149978;OTTHUMP00000222479;arylsulfatase K;telethon sulfatase APPROVED protein-coding ENSG00000164291 25239 13183 610011 VALIDATED 1606235 ARSJ arylsulfatase family, member J Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] 4 4 4 q26 112113187 112192557 - 115040889 115120327 - 114821440 114900878 - 6480464 16174644;16500042;16344560;15489334;12975309;12477932;20332099 79642 D6RGC1;Q5FYB0 ABBA01063835;AC104779;AI087279;AK027201;AK307532;AM049401;AMYH01014474;AY358647;AY875938;BC032010;BC033156;BC089445;BC132879;BC132881;BC142701;BC144265;BC151213;BG661302;DA031262;DA884606;NM_024590 AAH32010;AAH89445;AAI32880;AAI32882;AAI44266;AAQ89010;AAW66666;BAB15689;CAJ18095;NP_078866;Q5FYB0 Hs.22895;Hs.700496;Hs.712042 1701622;1771442;1858022;2145762;2146865;2153241 D4S1343;RH104453;SHGC-51089;STS-W81455;WI-11180;WI-21570 FLJ23548 ASJ;OTTHUMP00000219665;arylsulfatase J APPROVED protein-coding ENSG00000180801 26286 08034 610010 VALIDATED 1312119 ART1 ADP-ribosyltransferase 1 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008] 11 11 11 p15 3670682 3690726 + 3622937 3642222 + 3666361 3685646 + 1580863;6480464 7947688;9119374;17614107;16627471;12477932;11498506;10092875;8812442 417 P52961 ABBA01032051;ABBA01032052;ABBA01032053;AC060812;AJ291430;AMYH01003347;BC017828;BC069102;BC069828;BC111729;CH471158;NM_004314;S74683 AAB32387;AAH69102;AAI11730;CAC69964;EAX02558;EAX02559;NP_004305;P52961 Hs.382188 5021872;5037552 D8S2279;sY3084 ART2;ARTC1;CD296;MGC133217;RT6 ADP-ribosyltransferase 2;ADP-ribosyltransferase C2 and C3 toxin-like 1;GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1;OTTHUMP00000013621;mono(ADP-ribosyl)transferase 1 APPROVED protein-coding ENSG00000129744 723 03377 601625 REVIEWED 1353866 ARVD1 arrhythmogenic right ventricular dysplasia 1 1578811 7951245 422 729 1353946 ARVD2 arrhythmogenic right ventricular dysplasia 2 1578810;7240710 8589694 423 730 600996;604772 1349140 ARVD3 arrhythmogenic right ventricular dysplasia 3 1578812;7240710 9344647 8824801 424 1337405 D14S252 731 1345748 ARVD4 arrhythmogenic right ventricular dysplasia 4 1578812;7240710 9344647 425 1298284;1338915;1341679;7187779 D2S103;D2S151;D2S389 732 1315084 ART4 ADP-ribosyltransferase 4 (Dombrock blood group) This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008] 12 12 p13-p12 14873512 14887680 - 14982245 14996413 - 1580863;6480464 15847654;15489334;12519438;12477932;12070318;12028057;11896313;11520417;10971215;8882867;6034522;9119374;11001920;18510579;16140404;20932078;16040347;20431033;19413734;21832049;23421541 420 H7C2G2;Q3KZ29;Q3KZ30;Q93070 ABBA01067886;AC007655;AF290204;AF340233;AF340234;AF382212;AF382213;AF382215;AF382216;AF382218;AF382219;AF382222;AF382225;AK291662;AMYH01004303;AMYH01004304;AY690666;AY829431;AY829432;AY829433;AY829434;AY829435;AY829436;AY829437;AY899803;BC074727;BX096478;CH471094;CR746266;DQ072851;NG_007477;NM_021071;X95826 AAG17845;AAH74727;AAK11274;AAK11275;AAM21462;AAM21464;AAM21465;AAM21466;AAM21467;AAW02794;AAW65375;AAX39378;AAX39379;AAX39380;AAX39381;AAX39382;AAX39383;AAX39384;BAF84351;CAA65095;EAW96332;NP_066549;Q93070 Hs.591158;Hs.655792;Hs.668803 1853112;1854419;5094026 A010B03;G33063;G41311 ARTC4;CD297;DO;DOK1 ADP-ribosyltransferase 4 (DO blood group);ADP-ribosyltransferase C2 and C3 toxin-like 4;Dombrock blood group carrier molecule;NAD(P)(+)--arginine ADP-ribosyltransferase 4;OTTHUMP00000239331;OTTHUMP00000239332;dombrock blood group;ecto-ADP-ribosyltransferase 4;mono(ADP-ribosyl)transferase 4;mono-ADP-ribosyltransferase 4 APPROVED protein-coding 726 04364 110600 REVIEWED 1344380 ARX aristaless related homeobox This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008] X X p21.3 24932213 24943775 - 25021811 25034065 - 1599257;1599258;1598407;1580863;6480464;7240710 11971879;16772326 21108397;19085879;18975239;18923043;18468866;17668384;17664401;17641262;17613295;17490853;17480217;17082467;17044103;16988001;16845484;16523516;15850492;15726411;15707237;15533998;15199382;14722918;12874418;12874405;12736870;12379852;12376949;12376946;12359145;12177367;12142061;11889467;10920247;10398246;10398243;9001795;8826464;8826462;8826457;3177452;1605216;20506206;20384723;19587282;19605412;19734009;19738637;20538404;21204215;21204226;22922607;22387004;21426321;21482751;21496008;22490986;22252899;22565167;22194193;23072184;22642246 170302 Q96QS3 AA484051;ABBA01016868;ABBA01072376;ABBA01072377;ABBA01072378;ABBA01072379;AC002504;AMYH01022167;AMYH01022168;AY038071;BF196892;BQ100952;BQ269551;CA775911;CH471074;NG_008281;NM_139058 AAK93901;EAW99031;EAW99032;NP_620689;Q96QS3 Hs.300304 1338887;1339686;1701896;1788750;1850033;5491890;7185693 Arx;DXS1202;DXS1218;DXS1432;DXS989;RH128932;RH18271 CT121;EIEE1;ISSX;MRX29;MRX32;MRX33;MRX36;MRX38;MRX43;MRX54;MRX76;MRX87;MRXS1;PRTS OTTHUMP00000023088;aristaless-related homeobox, X-linked;cancer/testis antigen 121;homeobox protein ARX APPROVED protein-coding ENSG00000004848 18060 02307 300004;300215;300382;300419;308350;309510 REVIEWED 1342748 AS ankylosing spondylitis 426 734 1320437 ART3 ADP-ribosyltransferase 3 This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 q21.1 77214887 77252965 + 76932333 77033955 + 1580863;6480464 9119374;18266473;16934346;16625277;15489334;12477932;12070318;11879200;10460751;8605984;8125298;16040347;18029348;20237496;20379614;19913121;20628086;21988832 419 E7ER42;E7ESB3;E7EX61;E9PGR5;Q13508;Q5J1K9 ABBA01063355;AC112719;AK129914;AK225860;AK295305;AK308810;AMYH01014310;AY543655;AY543656;AY543657;AY543658;AY543659;AY543660;AY550336;AY550337;AY550338;AY550339;AY550340;AY550341;AY550342;AY550343;AY550344;AY550345;AY550346;BC008397;BC017913;BT007249;CH471057;CR541664;DB451386;NM_001130016;NM_001130017;NM_001179;U47054;X95827 AAB01894;AAH08397;AAH17913;AAP35913;AAT10277;AAT10278;AAT10279;AAT10280;AAT10281;AAT10282;AAT45030;AAT45031;AAT45032;AAT45033;AAT45034;AAT45035;AAT45036;AAT45037;AAT45038;AAT45039;AAT45040;ABM84209;ABM87613;BAG58285;CAA65096;CAG46465;EAX05765;EAX05766;EAX05768;EAX05769;EAX05770;EAX05771;NP_001123488;NP_001123489;NP_001170;Q13508 Hs.24976;Hs.731997 1645663;1645677;1650993;1656469;1763603;1772226;1797452;2108699;2137415;2155208;2163758;2164120;2166361;2174400;5022578 ART3_8212;CXCL10__1179;D1S1423;D4S2674;D4S3268;D4S478;G33388;G33799;G34355;SHGC-147296;SHGC-50663;SHGC-59623;SHGC4-1008;SHGC4-1683;STS-X02530 ARTC3;FLJ26404 ADP-ribosyltransferase C2 and C3 toxin-like 3;NAD(P)(+)--arginine ADP-ribosyltransferase 3;OTTHUMP00000160603;OTTHUMP00000160604;OTTHUMP00000219067;OTTHUMP00000219069;OTTHUMP00000219070;OTTHUMP00000222097;ecto-ADP-ribosyltransferase 3;mono(ADP-ribosyl)transferase 3;mono-ADP-ribosyltransferase APPROVED protein-coding ENSG00000156219 725 04363 603086 VALIDATED 1347630 ARTN artemin The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenerative disease. Artemin has been shown in culture to support the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 p33-p32 44171579 44175471 + 44398992 44402912 + 2325817;2325819;2325821;2325815;6480464 19304517;20302919;18344995;20395845 9883723;19363524;18970938;18313696;16765900;16734417;16710414;15829225;15489334;12477932;10673327;10583383;9448325;20305694;20530713;20118197;22901124;21453483;23095743;21907286;22008109;22060274;23185544;23351331;22770266 9048 E9PIK2;E9PLG3;E9PN22;Q5T4W7 ABBA01050938;AF109401;AF115765;AF120274;AJ245628;AL357079;AMYH01000562;AMYH01000563;BC062375;CH471059;NM_001136215;NM_057090;NM_057091 AAC98690;AAD13109;AAD13110;AAD21075;AAH62375;CAB52396;EAX07074;EAX07075;EAX07076;EAX07077;EAX07078;EAX07079;EAX07080;EAX07081;NP_001129687;NP_476431;NP_476432;Q5T4W7 Hs.632404 ENOVIN;EVN;NBN OTTHUMP00000009173;OTTHUMP00000231148;OTTHUMP00000231149;OTTHUMP00000231150;OTTHUMP00000231151;OTTHUMP00000231154;artemin;neublastin;neurotrophic factor APPROVED protein-coding ENSG00000117407 727 04863 603886 REVIEWED 1347628 ART5 ADP-ribosyltransferase 5 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Transcript variants with different 5' UTRs, but encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 3664036 3667844 - 3616312 3620122 - 3659736 3663546 - 634606;1580863;6480464 11587854 15489334;12975309;12477932;12070318;10448534;17207965 116969 H7C1W0;H7C3U2;Q96L15 ABBA01032053;AC060812;AK313531;AMYH01003347;AW241897;AY358466;BC014577;BI825352;CD557970;CH471158;NM_001079536;NM_053017;Y16835 AAH14577;AAQ88831;ADQ31665;CAC79987;EAX02555;EAX02556;EAX02557;NP_001073004;NP_443750;Q96L15 Hs.125680 ARTC5;MGC22848 ADP-ribosyltransferase C2 and C3 toxin-like 5;NAD(P)(+)--arginine ADP-ribosyltransferase 5;OTTHUMP00000013618;OTTHUMP00000013619;ecto-ADP-ribosyltransferase 5;mono(ADP-ribosyl)transferase 5 APPROVED protein-coding ENSG00000167311 24049 12493 610625 REVIEWED 1347222 ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B 10 10 q11.23 52169714 52184575 + 52499708 52514569 + 17334805;15146197;21906983 653308 B7Z261;P0C7U1 ABBA01052484;ABBA01052485;ABBA01052486;ABBA01052487;ABBA01052488;ABBA01052489;AL589794;AMYH01002734;AMYH01002735;AMYH01002736;BG773189;DC329838;NM_001079516 NP_001072984;P0C7U1 Hs.710005 1340515;1689376 D5S2115;RH80093 ASAH2C;ASAH2L;bA449O16.3 ASAH2-like protein;OTTHUMP00000019609;OTTHUMP00000019610;putative inactive N-acylsphingosine amidohydrolase 2B;putative inactive neutral ceramidase B;putative inactive non-lysosomal ceramidase B protein-coding ENSG00000204147 23456 610987 PROVISIONAL 1344716 ASAH2C N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C 10 10 10 q11.22 75110241 75151685 - 47521637 47575024 - 48001709 48050538 - 16229686;16061940;15946935;15845354;15489334;15164054;14557071;10781606;21906983 653365 P0C7U2 ABBA01052476;ABBA01052477;AL954360;AMYH01002467;AMYH01002468;AMYH01002469;AMYH01002470;AMYH01002471;AMYH01002472;NG_012763 CAI17190;P0C7U2 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 bA98I6.3 pseudo 23457 INFERRED 1349198 ARV1 ARV1 homolog (S. cerevisiae) 1 1 1 q42.2 204380771 204402432 + 229181446 229203102 + 231114823 231136479 + 1580863;6480464 16710414;15489334;14702039;12477932;12145310;11063737;17207965;20663892;16196087;21890473 64801 F6QB42;H0YEB4;H7C0E7;H7C484;Q9H5V6 ABBA01033032;AF271780;AF290878;AF321442;AK026629;AK293049;AL122047;AL732414;AL844165;AMYH01001816;BC016309;CH471098;NM_022786 AAG44791;AAG47671;AAH16309;AAK11180;ADQ31700;BAB15513;BAF85738;CAB59183;EAW69934;EAW69935;EAW69936;EAW69937;EAW69938;EAW69939;EAW69940;EAW69941;NP_073623;Q9H2C2 Hs.275736 1670917 A007E06 OTTHUMP00000035970;OTTHUMP00000036063;OTTHUMP00000036064;OTTHUMP00000036065;OTTHUMP00000036067;hARV1;protein ARV1 protein-coding ENSG00000173409 29561 12494 611647 VALIDATED 1315392 ARVCF armadillo repeat gene deleted in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] 22 22 q11.21 18337419 18384309 - 19957402 20004309 - 1578806;1580863;6480464 9126485 18600340;18198266;16118784;15509897;15456900;15345747;15340358;14702039;12477932;11821434;11058098;10725230;22087225;22889411;9721216;9192844;7677167;19508883;19617637;19692168;19706687;19724895;19851296;20198315;20333729;20379614;8889548;20634891;22318606;21139048;21906983;21846818;22053977;22139419 421 C9JJX6;E9PDC3;O00192 ABBA01005398;ABBA01005399;ABBA01005400;AC005663;AK092664;AMYH01012482;AMYH01012483;BC036893;BC137436;BM716184;CH471176;NG_023326;NM_001670;U51269 AAC51202;AAH36893;AAI37437;BAC03941;EAX03007;EAX03008;EAX03009;NP_001661;O00192 Hs.713616 1645894;1734280;1857183;2112420;2112426;2112432 D22S1603;D22S1605;D22S1607;D22S931;G18186;WI-22519 FLJ35345 OTTHUMP00000028704;OTTHUMP00000198346;OTTHUMP00000198347;OTTHUMP00000198348;armadillo repeat protein deleted in velo-cardio-facial syndrome APPROVED protein-coding ENSG00000099889 728 03778 602269 REVIEWED 1602895 ASAP1-IT1 ASAP1 intronic transcript 1 (non-protein coding) 8 8 8 q24.21 127487751 127488929 - 131376783 131377961 - 131307601 131308779 - 6480464 11042152 29065 ABBA01037979;AC009682;AF161539;AMYH01019027;NG_030354;NR_002765 Hs.639318 ASAP1-IT;ASAP1IT;ASAP1IT1;DDEF1IT1;HSPC054;NCRNA00050 APPROVED miscrna 24998 VALIDATED 1350697 AS3MT arsenic (+3 oxidation state) methyltransferase AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008] 10 10 q24.32 104619200 104651646 + 104629210 104661656 + 625365;1580863;6480464 11790780 8125298;19411561;19371612;19167370;19159958;19152805;18976679;18682255;18588996;18414634;18334919;17889916;17850829;17637926;17450230;17306849;16407288;16344560;15929903;15808521;12477932;20571777;20877624;16385451;19430483;19538983;19896490;19932709;20014157;20129672;20532380;20547570;20621156;20971157;21247820;22955273;22747749;21537954;22005461;23093101;23894747;22339537;21139048;22341486;22547080;23341986;21963094;23453885;22712827;23070617 57412 Q0VDK3;Q9HBK9 ABBA01063131;ABBA01063132;AF226730;AK057833;AK225972;AK309737;AL358790;AMYH01003020;AMYH01003021;AW139845;AY817668;BC119637;BC119638;CH471066;DA368970;NM_020682 AAG09731;AAI19638;AAI19639;AAI60057;AAV68045;EAW49668;EAW49669;NP_065733;Q9HBK9 Hs.720370 1670076;1774675;2179270;2191087;5014051;5015619;5016596;5024761;5037552;5491553 D11S3114;D16S779;D8S2278;D8S2279;GDB:631802;MARC_14453-14454:1010434240:1;MARC_17614-17615:1019141787:1;RH36905;RH44877;STS-N70305 CYT19;RP11-753C18.6 2310045H08Rik;OTTHUMP00000020384;S-adenosyl-L-methionine:arsenic(III) methyltransferase;S-adenosylmethionine:arsenic (III) methyltransferase;arsenite methyltransferase;methylarsonite methyltransferase;methyltransferase cyt19 APPROVED protein-coding ENSG00000214435 17452 16511 611806 VALIDATED 1605058 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008] 10 10 q11.21 51617078 51678319 - 51947000 52008370 - 6480464;6907045 10781606;17982236;17475390;17334805;16940153;16229686;16061940;15946935;15845354;15489334;15210766;15164054;14557071;12477932;11328816;10753931;8076819;16385451;20520628;20877624;21530485;21531200;21906983;23263486;23400010 56624 E9PBM9;Q9NR71 AF250847;AF449759;AL450382;AMYH01002724;AMYH01002725;AMYH01002726;AMYH01002727;AMYH01002728;AMYH01002729;AMYH01002730;AMYH01002731;AMYH01002732;AY049008;BC107105;BG289059;CH471142;NM_001143974;NM_019893 AAF86240;AAI07106;AAL06061;AAQ04667;EAW80435;EAW80436;NP_001137446;NP_063946;Q9NR71 Hs.512645 1335475;1721105;2161972;7185095 D10S1447;D10S225;G59537 BCDase;HNAC1;LCDase;MGC129777;N-CDase;NCDase LCDase;N-CDase;N-acylsphingosine amidohydrolase 2;OTTHUMP00000019606;OTTHUMP00000211204;acylsphingosine deacylase 2;hCD;mitochondrial ceramidase;neutral ceramidase;neutral/alkaline ceramidase;non-lysosomal ceramidase APPROVED protein-coding ENSG00000188611 18860 611202 VALIDATED 734135 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 p22 17958214 17986787 - 17913925 17942507 - 734977;1580863;6480464;6484113;6907045;7240710 11241842 8955159;18477771;18245333;17881906;17713573;16806233;16500425;16344560;16335952;16263699;15489334;15210766;15088070;14702039;12815059;12764132;12754519;12638942;12477932;11451951;10974027;10959093;10610716;9838138;8889549;8125298;7744740;16169070;21335555;19298866;19905902;20379614;21493710;20520628;19913121;20628086;20871013;21552555;22927646;22268729;20360068;21504271;21846728;21988832;21375364;22703880;21700700;21139048;21890473;22079093;22261821;21893389;22515519;22322590 427 A8K0B6;E7EMM4;E7ERV9;Q13510;Q53H01 ABBA01021575;AC124242;AF220175;AK025211;AK025732;AK098299;AK222780;AK289481;AMYH01018549;AMYH01018550;AY305384;BC016481;BC016828;BC035453;BG714023;BU633536;CB216602;CH471080;DA260852;DA306573;DB561177;H78830;NG_008985;NM_001127505;NM_004315;NM_177924;U47674;U70063 AAC50907;AAC73009;AAF91230;AAH16481;AAH16828;AAQ75550;ABM81997;ABM85180;BAB15085;BAD96500;BAF82170;BAG53608;EAW63791;EAW63792;EAW63793;EAW63794;EAW63795;NP_001120977;NP_004306;NP_808592;Q13510 Hs.527412;Hs.633993 1682043;1735724;1786810;1850492;2120177;2136031;2145172 D8S1341E;D8S1586;D8S2080;D8S2114;RH11700;RH94375;SHGC-170029 AC;ACDase;ASAH;FLJ21558;FLJ22079;PHP;PHP32;SMAPME OTTHUMP00000122481;OTTHUMP00000122482;OTTHUMP00000224670;OTTHUMP00000224838;acid CDase;acid ceramidase;acylsphingosine deacylase;n-acylsphingosine amidohydrolase (acid ceramidase);putative 32 kDa heart protein APPROVED protein-coding ENSG00000104763 735 01969 159950;228000;613468 REVIEWED 1354069 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 q24.1-q24.2 131133535 131483399 - 131064350 131455906 - 1580863;6480464;6484113;6907045 12029088;17474147;19017632;18685082;18519696;18400762;16636290;16421571;16038802;15897555;14702039;12522101;12477932;12149250;12058076;11773070;10574462;9819391;15719014;12672817;15090612;17893324;19531213;21352810;12771146;16223492;17255943;19041431;19525955;20154719;20936779;16344560;18094045;21858086;21139048;19322201;22734003;19380743;20697350 50807 E5RFD9;E5RHA9;E5RHD7;H0YBF7;H0YBM4;H0YBY9;Q9ULH1 AB033075;ABBA01037977;ABBA01037978;ABBA01037979;ABBA01037980;ABBA01037981;ABBA01037982;AC009682;AC103725;AC131568;AC139019;AF222859;AI494058;AI656533;AK056811;AK314695;AMYH01019026;AMYH01019027;AMYH01019028;AMYH01019029;AP005856;AP006178;AP006181;AW236866;AW236958;BC020631;BC070268;BC105978;BC137135;BC144493;BX537768;CH471060;DA319233;HI574070;NG_030354;NM_001247996;NM_018482 AAF67666;AAH20631;AAI37136;BAA86563;CAD97831;CBX47524;EAW92130;EAW92131;NP_001234925;NP_060952;Q9ULH1 Hs.655552 1662904;1698994;1713855;1735838;1749823;1757151;1757563;1856191;2117668;2124278;2131167;2136015;2137065;2144413;2150744;2163256;2186333;2218464 D8S1435E;D8S1921;D8S1945;D8S344;DDEF1_4682;G17258;RH103067;RH119359;RH16451;RH69822;SGC38391;SHGC-111562;SHGC-144582;SHGC-145025;SHGC-34037;SHGC-58182;STS-N34678;WI-3886 AMAP1;CENTB4;DDEF1;KIAA1249;PAG2;PAP;ZG14P 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein;130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein;ADP-ribosylation factor-directed GTPase-activating protein 1;ARF GTPase-activating protein 1;DEF-1;OTTHUMP00000227438;OTTHUMP00000227440;PIP2-dependent ARF1 GAP;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1;centaurin, beta 4;development and differentiation enhancing factor 1;development and differentiation-enhancing factor 1;differentiation-enhancing factor 1 APPROVED protein-coding ENSG00000153317 2720 05809 605953 REVIEWED 1313189 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 2 2 2 p25 9258815 9457991 + 9264345 9463257 + 9346894 9545812 + 1580863;6480464;6907045 11716503;19010793;17081983;15719014;15489334;15483625;15231847;14702039;12477932;12149250;11304556;10749932;10022920;9819391;9455477;17353931;18685082;20936779;20944657;17474147;22178446;19322201;21110914;12421765;18654987;17255943 8853 O43150;Q8N282 AA918883;AB007860;ABBA01015577;ABBA01015578;ABBA01015579;ABBA01015580;ABBA01015581;ABBA01015582;ABBA01015583;ABBA01015584;AC079782;AC080162;AC093904;AK091121;AK124900;AMYH01010093;BC063308;CH471053;NM_001135191;NM_003887 AAH63308;AAY14856;AAY14904;AAY24112;BAA23696;BAC03588;EAX01002;EAX01003;EAX01004;EAX01005;EAX01006;NP_001128663;NP_003878;O43150 Hs.555902 1694580;1706884;1764841;2109219;2136828;2165085;2172111 D2S1665E;DDEF2_4683;G43274;RH12299;RH16639;SHGC-148404;SHGC-80929 AMAP2;CENTB3;DDEF2;FLJ42910;KIAA0400;PAG3;PAP;Pap-alpha;SHAG1 OTTHUMP00000145855;PYK2 C terminus-associated protein;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2;centaurin, beta 3;development and differentiation enhancing factor 2;development and differentiation-enhancing factor 2;paxillin-associated protein with ARF GAP activity 3;pyk2 C-terminus-associated protein APPROVED protein-coding ENSG00000151693 2721 04820 603817 REVIEWED 1346642 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 p36.12 22084761 22140449 - 23627643 23683258 - 23755056 23810750 - 1580863;6480464;6907045 18400762;16737952;16710414;15489334;14702039;14654939;12477932;18685082;20510928;22027826;19380743 55616 E9PS98;H0YE36;H0YEB0;H0YER8;Q8TDY4 AB056749;ABBA01059872;ABBA01059873;ABBA01059874;AK000206;AK000253;AK074319;AK092291;AK295100;AK299359;AL021154;AL357134;AMYH01000359;BC023519;BC052305;BC060786;CH471134;NM_001143778;NM_017707 AAH23519;AAH52305;AAH60786;BAA91008;BAA91033;BAB85677;BAG52522;BAG58136;BAG61354;EAW95050;EAW95051;EAW95052;EAW95053;NP_001137250;NP_060177;Q8TDY4 Hs.437379 1644317;1697132;1732998;1777876;1850009;2139641 Cda0dc08;D1S1370;D1S3162;RH102051;RH18164;SHGC-74378 ACAP4;CENTB6;DDEFL1;FLJ20199;UPLC1 ARF6 GTPase-activating protein;ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1;OTTHUMP00000003268;OTTHUMP00000003269;OTTHUMP00000235356;arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3;centaurin, beta 6;development and differentiation enhancing factor-like 1;development and differentiation-enhancing factor-like 1;protein up-regulated in liver cancer 1;up-regulated in liver cancer 1 (UPLC1) APPROVED protein-coding ENSG00000088280 14987 11662 REVIEWED 1321850 ASB1 ankyrin repeat and SOCS box containing 1 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 2 2 2 q37 233048109 233073377 + 239000365 239025630 + 239335626 239360891 + 1580863;6480464 11111040;18029348;15489334;21145461;18187417;19159283;12477932;12076535;11509662;10574461;9110174;8619474;20237496;16751776;16325183;21946350 51665 B9A047;F8WBM8;Q9Y576 AB032972;ABBA01042606;AC016999;AF055024;AF156777;AMYH01011606;BC014528;CH471063;NM_001040445 AAD41894;AAH14528;AAX88934;ADZ15870;BAA86460;EAW71158;EAW71159;NP_001035535;Q9Y576 Hs.516788 2106441;2126215;2162569;2183832 ASB1_3826;RH35763;SGC30171;WI-20724 ASB-1;KIAA1146;MGC11165 OTTHUMP00000202577;OTTHUMP00000202578;ankyrin repeat and SOCS box protein 1;ankyrin repeat and SOCS box-containing 1 APPROVED protein-coding ENSG00000065802 16011 05767 605758 REVIEWED 1344351 ASB11 ankyrin repeat and SOCS box containing 11 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] X X X p22.31 19417215 19449322 - 15211548 15243648 - 15299819 15333746 - 1580863;6480464 18029348;16893969;15489334;12477932;12076535 140456 F8WF31;Q7Z670;Q8WXH4 ABBA01071284;ABBA01071285;ABBA01071286;ABBA01071287;ABBA01071288;ABBA01071289;AC095351;AF425642;AMYH01022105;BC069340;BC103873;BC103874;BC103875;BX537853;BX537857;CH471074;NG_012627;NM_001012428;NM_001201583;NM_080873 AAH69340;AAI03875;AAI03876;AAL60519;CAD97861;CAD97864;EAW98877;EAW98878;NP_001012428;NP_001188512;NP_543149;Q8WXH4 Hs.352183 1340271;5037552 D8S2279;DXS9902 DKFZp779E2460;MGC119168;MGC119169 ASB-11;OTTHUMP00000022958;OTTHUMP00000215046;OTTHUMP00000215047;ankyrin repeat and SOCS box protein 11;ankyrin repeat and SOCS box-containing 11;ankyrin repeat and SOCS box-containing protein 11, isoform a;ankyrin repeat domain-containing SOCS box protein ASB11 APPROVED protein-coding ENSG00000165192 17186 06450 300626 REVIEWED 1353086 ASB10 ankyrin repeat and SOCS box containing 10 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008] 7 7 7 q36.1 145430126 145442260 - 150503718 150515411 - 150872785 150884919 - 1580863;6480464 22156576;16344560;16325183;15489334;14702039;12690205;12076535;12477932;23455924;21988832;22798626 136371 D5MNW9;F8WB38;J3KQJ5;Q8WXI3 AACC02000108;ABBA01035161;ABBA01035162;AC010973;AF417920;AK055536;AK125565;AK315114;AMYH01018144;BC126351;CH471173;DA898875;NG_017016;NM_001142459;NM_001142460;NM_080871 AAI26352;AAL59159;BAC86204;EAL24504;EAW54020;EAW54021;EAW54022;NP_001135931;NP_001135932;NP_543147;Q8WXI3 Hs.647081 GLC1F OTTHUMP00000211301;OTTHUMP00000211302;OTTHUMP00000211303;ankyrin repeat and SOCS box protein 10;ankyrin repeat and SOCS box-containing 10 APPROVED protein-coding ENSG00000146926 17185 603383;615054 REVIEWED 1343044 ASB14 ankyrin repeat and SOCS box containing 14 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008] 3 3 3 p21.1 57267953 57292330 - 57277419 57288020 - 57302379 57326710 - 1580863;6480464 16325183;12477932;12076535;10737800 142686 A6NK59 ABBA01024422;AC093928;AF403032;AL832472;AMYH01013220;BC114953;BE004392;CH471055;NM_001142733;NM_130387 A6NK59;AAI14954;AAL57351;EAW65337;EAW65338;NP_001136205;NP_569058 Hs.665154;Hs.745243 1650567;1675937;1735162 D3S2814E;RH99000;SHGC-77071 DKFZp313L0121 OTTHUMP00000213143;ankyrin repeat and SOCS box protein 14;ankyrin repeat and SOCS box-containing 14;ankyrin repeat domain-containing SOCS box protein Asb-14 APPROVED protein-coding ENSG00000239388 19766 10668 REVIEWED 1602398 ASB18 ankyrin repeat and SOCS box containing 18 2 2 2 q37.2 230816647 230886004 - 236768254 236837727 - 237103515 237172988 - 6480464 16325183;12076535;20339536 401036 C9JFL4;H7C3E8;Q6ZVZ8 ABBA01042571;ABBA01042572;AC019068;AC079135;AK123854;AMYH01011594;AMYH01011595;AMYH01011596;BX647589;NM_212556 AAI72346;BAC85710;NP_997721;Q6ZVZ8 Hs.639909 1659351;1784166;5015619;5037552 D11S3114;D2S1972;D8S2279;SHGC-155069 ASB-18;DKFZp313I1130 OTTHUMP00000203076;ankyrin repeat and SOCS box protein 18;ankyrin repeat and SOCS box-containing 18 APPROVED protein-coding ENSG00000182177 19770 16514 PROVISIONAL 1321264 ASB13 ankyrin repeat and SOCS box containing 13 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010] 10 10 10 p15.1 5611177 5638957 - 5720837 5748547 - 5680820 5708558 - 1580863;6480464 21145461;16169070;16325183;16189514;15489334;15342556;15164054;14702039;12477932;12076535;20677014;21900206 79754 Q8WXK3 ABBA01034772;ABBA01034773;ABBA01034774;ABBA01034775;AF403031;AI377400;AK023196;AK091935;AK292071;AL365356;AMYH01002002;BC012056;BG436652;BP249999;CH471072;CR457302;NM_024701;NR_024581;NR_037164 AAH12056;AAL57350;BAB14456;BAF84760;CAG33583;EAW86435;EAW86436;EAW86437;EAW86438;EAW86439;NP_078977;Q8WXK3 Hs.445899 1721953;1787546;2157283 G59862;RH46010;SHGC-155672 FLJ13134;MGC19879 OTTHUMP00000019006;ankyrin repeat and SOCS box protein 13;ankyrin repeat and SOCS box-containing 13;ankyrin repeat domain-containing SOCS box protein Asb-13 APPROVED protein-coding ENSG00000196372 19765 10667 615055 REVIEWED 1346506 ASB15 ankyrin repeat and SOCS box containing 15 7 7 7 q31.31 118052868 118081688 + 123036348 123065168 + 123249112 123277932 + 1580863;6480464 17672918;16325183;16012773;14702039;12477932;12076535 142685 C9J956;Q8WXK1 AACC02000001;ABBA01057731;AC006333;AF403033;AF428257;AK125360;AMYH01017903;AMYH01017904;BC100874;BC100875;BC100876;BC100877;CH236947;CH471070;CR749595;NM_080928 AAI00875;AAI00876;AAI00877;AAI00878;AAI66689;AAL57352;AAP97297;AAQ96857;BAC86146;CAH18393;EAW83594;EAW83595;EAW83596;NP_563616;Q8WXK1 Hs.83916 1678675 RH98583 DKFZp779M1258;FLJ43370 ASB-15;OTTHUMP00000211495;OTTHUMP00000211496;OTTHUMP00000211497;OTTHUMP00000211498;ankyrin repeat and SOCS box protein 15;ankyrin repeat and SOCS box-containing 15 APPROVED protein-coding ENSG00000146809 19767 10669 VALIDATED 1349928 ASB12 ankyrin repeat and SOCS box containing 12 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011] X X X q11.2 63790909 63792336 - 63360801 63362228 - 63444072 63450511 - 1580863;6480464 15772651;15489334;14702039;12477932;12076535;16344560;20211142;7566098;16325183 142689 Q8WXK4 AA349954;ABBA01066881;ABBA01066882;AF403030;AK096896;AK300684;AL356317;AMYH01022493;BC069436;BC069555;BC093883;BC104946;CH471132;DA560184;NG_012823;NM_130388 AAH69436;AAH69555;AAH93883;AAI04947;AAL57349;BAC04888;BAG62367;EAX05414;NP_569059;Q8WXK4 Hs.56281 1699460;1771385;5492429 RH103321;RH41896;UniSTS:480997 FLJ39577 OTTHUMP00000023429;ankyrin repeat and SOCS box protein 12;ankyrin repeat and SOCS box-containing 12;ankyrin repeat domain-containing SOCS box protein Asb-12 APPROVED protein-coding ENSG00000198881 19763 06451 300891 REVIEWED 1313384 ASB16 ankyrin repeat and SOCS box containing 16 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38956789 38965185 + 39603600 39611977 + 42248074 42256451 + 1580863;6480464 16325183;15489334;14702039;12477932;12076535;17474147;20379614 92591 K7ELE0;K7EM41;Q96NS5 ABBA01028384;ABBA01028385;AC004596;AF403034;AK054727;AK314595;AMYH01008410;AY557346;BC075088;BC118584;BC118585;CH471178;NM_080863 AAH75088;AAI18585;AAI18586;AAL57353;AAS67920;BAB70800;BAG37167;EAW51627;EAW51628;NP_543139;Q96NS5 Hs.534517 5022651;5492521 D11S2921;UniSTS:481453 FLJ30165;MGC141876;MGC141877 ankyrin repeat and SOCS box protein 16;ankyrin repeat and SOCS box-containing 16;ankyrin repeat and SOCS box-containing protein 16 APPROVED protein-coding ENSG00000161664 19768 10670 615056 REVIEWED 1603501 ASB16-AS1 ASB16 antisense RNA 1 17 17 17 q21.31 38962081 38972816 - 39608871 39619608 - 42253341 42264085 - 6480464 14702039;12477932;15862967;16712791;15146197;16344560 339201 Q495Z4 ABBA01028383;ABBA01028384;AC004596;AK055685;AL833953;AMYH01008410;AMYH01008411;AMYH01008412;BC009448;BC100964;BC100965;BC100966;BC100967;CB151608;CH471178;CN367999;DA567080;NR_049729;NR_049730 AAH09448;AAI00965;AAI00966;AAI00967;AAI00968;BAG51556;EAW51625;EAW51626;Q495Z4 Hs.656564 5118576;5492847 D11S3430;UniSTS:483028 C17orf65;DKFZp762C2414;MGC119234 hypothetical protein LOC339201;uncharacterized protein C17orf65 APPROVED miscrna ENSG00000267080 25442 13231 VALIDATED 1343895 ASB17 ankyrin repeat and SOCS box containing 17 1 1 1 p31.1 74624762 74638320 - 76157148 76170704 - 76384558 76398116 - 1580863;6480464 16325183;15489334;15204681;14702039;12477932;12076535;17207965 127247 Q4G1B1;Q8WXJ9 ABBA01074414;AC092813;AF403035;AF429968;AK098606;AL445464;AMYH01000716;BC022517;BC036573;CH471059;HC006782;HC044789;NM_080868;NR_026546 AAH22517;AAH36573;AAL57354;AAN85310;ADQ32483;BAC05350;CBH19197;CBH30724;EAX06391;NP_543144;Q8WXJ9 Hs.125423 2113684 AB071128 Asb-17 OTTHUMP00000011348;ankyrin repeat and SOCS box protein 17;ankyrin repeat and SOCS box-containing 17 APPROVED protein-coding ENSG00000154007 19769 10671 VALIDATED 1315012 ASB2 ankyrin repeat and SOCS box containing 2 This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 14 14 q31-q32 93470266 93493520 - 94400499 94443076 - 1580863;6480464 18029348;16325183;15590664;15489334;15231748;15014966;14702039;12477932;12076535;11682484;11566180;11111040;9419338;19159283;19300455;21750192;18799729;19376791;21119685;22916308;21737450;21969365;22174154;22382022 51676 G3V2Z2;G3V3P8;G3V484;G3V4B2;Q96Q27 AB056723;AB488462;ABBA01030427;AF159164;AJ251238;AK002049;AK057078;AK093271;AK303686;AK315628;AL079302;AL132642;AL137735;AMYH01005968;BC032354;CH471061;NM_001202429;NM_016150 AAD45345;AAH32354;ABM82256;ABM85439;BAB64532;BAG37996;BAG51006;BAG51858;BAG64678;BAI77868;CAB70899;CAC17765;EAW81540;EAW81541;EAW81542;EAW81543;NP_001189358;NP_057234;Q96Q27 Hs.510327 1650498 RH65774 ASB-2;MGC40044 OTTHUMP00000245755;OTTHUMP00000245756;OTTHUMP00000245757;ankyrin repeat and SOCS box protein 2;ankyrin repeat and SOCS box-2 containing protein;ankyrin repeat and SOCS box-containing protein 2a;ankyrin repeat-containing protein ASB-2 APPROVED protein-coding ENSG00000100628 16012 05768 605759 REVIEWED 1348810 ASB4 ankyrin repeat and SOCS box containing 4 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008] 7 7 7 q21-q22 89814002 89865786 + 94953220 95005007 + 95115213 95169543 + 1580863;6480464 15929745;12853948;12690205;12477932;12076535;11111040;11076863;17276034;17636018;14702039 51666 Q9Y574 AACC02000013;ABBA01045776;ABBA01045777;AC002451;AC003079;AF156779;AK096449;AMYH01017699;BC025024;BC113479;BC113481;CH236949;CH471091;NM_016116;NM_145872 AAB83943;AAD41896;AAH25024;AAI11595;AAI13480;AAI13482;ADR83137;EAL24129;EAL24130;EAW76760;EAW76761;EAW76762;NP_057200;NP_665879;Q9Y574 Hs.602765;Hs.737518 1335993;1339980;1691392;2107859;5095092;7185349;7186554 ASB4_8047;D7S2431;D7S2482;G42093;MARC_51748-51749:1152645132:4 ASB-4;MGC142039;MGC142041 OTTHUMP00000204731;OTTHUMP00000204732;ankyrin repeat and SOCS box protein 4;ankyrin repeat and SOCS box-containing 4 APPROVED protein-coding ENSG00000005981 16009 05770 605761 REVIEWED 4140134 ASB9P1 ankyrin repeat and SOCS box containing 9 pseudogene 1 15 15 15 q26.1 69750740 69752364 + 91139881 91153668 + 93338714 93340338 + 728619 ABBA01053097;AC106028;AMYH01006934;BG059734;NR_033769 Hs.684129 APPROVED pseudo 20972 PROVISIONAL 1318243 ASB3 ankyrin repeat and SOCS box containing 3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011] 2 2 2 p16.2 53737972 53854933 - 53750622 53867583 - 53897117 54014146 - 6480464 15899873;15489334;14702039;12477932;12076535;11509662;11111040;8125298;17353931;21145461;16344560;18187417;19322201;21988832;22939624;23251661 51130 Q9NVZ2 AB209795;ABBA01075236;ABBA01075237;AC007883;AC008064;AF156778;AK000985;AK001283;AK056069;AK222595;AK222715;AK303133;AMYH01010355;BC006488;BC009569;CH471053;DA038561;DB558848;NM_001201965;NM_016115;NM_145863 AAD41895;AAH06488;AAH09569;AAX93180;AAY24350;ABM84179;ABM87581;BAA91455;BAA91599;BAD93032;BAD96315;BAD96435;BAG51615;BAG64238;EAX00167;EAX00168;EAX00169;EAX00170;EAX00171;NP_001188894;NP_057199;NP_665862;Q9Y575 Hs.40763 1673255;1715515;1847441;2168157;2173021;2217032 A006Z48;ASB3_3822;D2S2570;G27383;RH120980;SHGC-12264 ASB-3;FLJ10123;FLJ10421;MGC12531;MGC132002;MGC996 OTTHUMP00000159607;OTTHUMP00000198696;OTTHUMP00000200612;OTTHUMP00000200662;ankyrin repeat and SOCS box protein 3;ankyrin repeat and SOCS box-containing 3 APPROVED protein-coding ENSG00000115239 16013 05769 605760 REVIEWED 1352084 ASB5 ankyrin repeat and SOCS box containing 5 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008] 4 4 4 q34.2 174462813 174518217 - 177371822 177427269 - 177134824 177190373 - 1580863;6480464 15489334;14702039;12477932;12076535;20379614;17207965 140458 D6R9Q2;Q5HYF3;Q8N7B5;Q8WWX0 ABBA01070411;ABBA01070412;AC019163;AC093605;AK096441;AK098693;AMYH01014734;AY057053;BC065710;BX647857;CH471056;NM_080874 AAH65710;AAL18248;ADQ32071;BAC04791;BAC05382;CAI46074;EAX04720;NP_543150;Q8WWX0 Hs.591712 ASB-5 OTTHUMP00000218996;OTTHUMP00000218997;SOCS box protein ASB-5;ankyrin repeat and SOCS box protein 5;ankyrin repeat and SOCS box-containing 5 APPROVED protein-coding ENSG00000164122 17180 10672 615050 REVIEWED 1313017 ASB7 ankyrin repeat and SOCS box containing 7 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 77556003 77605160 + 98960358 99007174 + 101142755 101191906 + 6480464 18029348;15203218;14702039;12477932;12076535;8125298;21145461;16325183;17207965;16159877;21628590;21988832;23006423;22797925 140460 H0YMJ1;Q9H672 AA830153;ABBA01020536;AC090695;AF451994;AK026204;AK057921;AK094123;AK222958;AK222974;AK289860;AMYH01006971;BC025252;BC063581;BQ933001;CD632230;CH471101;NM_024708;NM_198243 AAH63581;AAP97683;ADQ32570;BAB15392;BAD96678;BAD96694;BAF82549;EAX02274;EAX02275;EAX02276;EAX02277;NP_078984;NP_937886;Q9H672 Hs.31845;Hs.709044 1650456;1682912;1758427;2138680;2149886;2217034 ASB7_3711;D15S1314;RH93847;SHGC-148298;SHGC-52663;STS-N20924 FLJ22551;FLJ25192 ASB-7;OTTHUMP00000194832;OTTHUMP00000194833;ankyrin repeat and SOCS box protein 7;ankyrin repeat and SOCS box-containing 7 APPROVED protein-coding ENSG00000183475 17182 10674 615052 REVIEWED 1318216 ASB6 ankyrin repeat and SOCS box containing 6 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] 9 9 9 q34.13 103047698 103055260 - 131436704 131444265 - 132396883 132404448 - 6480464 15489334;15231829;14702039;12477932;12076535;8125298;16325183;21145461;17207965;16344560;16751776;21832049;22863883;21139048;19159283;19322201;22053931;22797925 140459 B4DRC4;Q9NWX5 ABBA01043939;AK000555;AK023004;AK093539;AK225618;AK292807;AK299193;AL390135;AL590369;AMYH01021762;BC001719;BC065913;BX648923;CH471090;CR627462;DA953275;NM_001202403;NM_017873;NM_177999 AAH01719;AAH65913;ACE86653;ACE87335;ADQ32604;ADZ15715;BAA91250;BAB14355;BAF85496;BAG61236;CAH10563;EAW87896;EAW87897;EAW87898;EAW87899;EAW87900;NP_001189332;NP_060343;NP_821066;Q9NWX5 Hs.125037 1689053;1852246;2110265;5014029;5015619;5020740;5020946;5022578;5022651;5024039;5037552 ASB6_8143;D11S2921;D11S3114;D13S1639;D16S325;D1S1423;D8S2279;L17809;L17971;RH93952;SGC32655 FLJ20548;MGC1024 ASB-6;OTTHUMP00000022342;OTTHUMP00000022343;ankyrin repeat and SOCS box protein 6;ankyrin repeat and SOCS box-containing 6 APPROVED protein-coding 17181 10673 615051 REVIEWED 1319481 ASB8 ankyrin repeat and SOCS box containing 8 12 12 12 q13.11 47339076 47348938 - 46827839 46837644 - 48541572 48551377 - 1580863;6480464 18029348;15489334;14702039;12559969;12477932;12076535;16341674;20211142;17207965;19159283 140461 F5GYF0;F5GZZ3;F5H023;F5H243;F5H5S9;F5H6A7;F5H772;F5H7B4;F8VS92;Q9H765 ABBA01031475;ABBA01031476;AC074029;AF464877;AK024908;AK125596;AK289957;AK297013;AMYH01004429;BC001321;BM837218;BQ009637;CH471111;CR457336;NM_024095 AAH01321;AAQ04830;ADQ31852;BAB15033;BAC86214;BAF82646;BAG59546;CAG33617;EAW57976;NP_077000;Q9H765 Hs.432699 1337159;1779330;2109065;2171412;5015619;5015861;5022200;5022450;7185938 ASB8_8144;D10S16;D10S275;D11S3114;DXS8011;L18426;SHGC-153332;WI-15661 FLJ21255;MGC5540;PP14212 ASB-8;OTTHUMP00000237000;OTTHUMP00000237001;OTTHUMP00000237007;OTTHUMP00000237009;OTTHUMP00000237010;ankyrin repeat and SOCS box protein 8;ankyrin repeat and SOCS box-containing 8 APPROVED protein-coding ENSG00000177981 17183 10675 615053 VALIDATED 1315779 ASCL3 achaete-scute complex homolog 3 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 11 11 11 p15.3 9078881 9084342 - 8915695 8921156 - 8959119 8964580 - 1580863;6480464 15475265;11784080;11528127;18029348;20211142;21832049 56676 Q9NQ33 AB046450;ABBA01061203;AC026894;AJ400877;AMYH01003377;CH471064;NM_020646 AAI41566;AAI46583;BAB83913;CAB92288;EAW68610;NP_065697;Q9NQ33 Hs.501852 2218260 ASCL3_4381 HASH3;SGN1;bHLHa42 ASH-3;achaete-scute homolog 3;bHLH transcription factor Sgn-1 (Salivary Glands 1);bHLH transcriptional regulator Sgn-1;class A basic helix-loop-helix protein 42 APPROVED protein-coding ENSG00000176009 740 18523 609154 PROVISIONAL 1344669 ASB9 ankyrin repeat and SOCS box containing 9 This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.2 19377104 19404177 - 15172030 15203654 - 15262109 15288589 - 1580863;6480464 22418839;19275750;18680464;18029348;16189514;15489334;14702039;12477932;12076535;16325183;16344560;17148442;20302626;20211142;20878058;19159283;19060904 140462 Q7Z4A2;Q96DX5;R4GN94 ABBA01071278;ABBA01071279;ABBA01071280;ABBA01071281;ABBA01071282;ABBA01071283;AC095351;AK000643;AK292270;AL080091;AMYH01022105;AY337578;BC001244;BC013172;CH471074;DA943920;NG_016218;NM_001031739;NM_001168530;NM_001168531;NM_024087 AAH01244;AAH13172;AAQ17469;BAA91302;BAF84959;CAB45706;EAW98870;EAW98871;EAW98872;EAW98873;EAW98874;EAW98875;EAW98876;NP_001026909;NP_001162002;NP_001162003;NP_076992;Q96DX5 Hs.19404 1698814;1761867 RH102971;SHGC-145813 DKFZp564L0862;FLJ20636;MGC4954 ASB-9;OTTHUMP00000022955;OTTHUMP00000022956;OTTHUMP00000022957;ankyrin repeat and SOCS box protein 9;ankyrin repeat and SOCS box-containing 9;ankyrin repeat and suppressor of cytokine signaling box protein 9 APPROVED protein-coding ENSG00000102048 17184 06452 300890 REVIEWED 735625 ASCL2 achaete-scute complex homolog 2 (Drosophila) This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008] 11 11 p15.5 2246304 2248758 - 2289728 2292182 - 1580863;6480464 8751384;17165436;16568095;14561729;12917334;12477932;12099555;11440538;10757985;9610003;9175731;12670868;12482968;20479215;22384170;20856196;23181270 430 Q99929 ABBA01032096;ABBA01032097;AC129929;AF442769;AMYH01003319;BC028140;BC057801;BC136561;BC136567;NM_005170;S82817;U77629 AAB39362;AAB86993;AAH57801;AAI36562;AAI36568;AAL35362;NP_005161;Q99929 Hs.152475 1792994;1806878;1816836;1816918;1829630;1835798;1844924;2092396;2092398;2092400;2092402;2092404;2092406;2092408;2092410;2092412;2092414;2092416;2092418;2092420;2216880;2216882 ECD04404;ECD09464;ECD09508;ECD15947;ECD19060;ECD23678;PMC180905P1;REN117481;REN117482;REN117483;REN117484;REN117485;REN117486;REN117487;REN117488;REN117489;REN117490;REN117491;REN117492;REN117493;stSG548787;stSG548788 ASH2;HASH2;MASH2;bHLHa45 ASH-2;OTTHUMP00000011229;achaete-scute complex homolog-like 2 (drosophila);achaete-scute complex-like 2;achaete-scute homolog 2;class A basic helix-loop-helix protein 45;mammalian achaete/scute homologue 2 APPROVED protein-coding ENSG00000183734 739 03533 601886 VALIDATED 1603722 ASCL5 achaete-scute complex homolog 5 (Drosophila) 1 1 1 q32.1 174207616 174223353 - 199350256 199364960 - 201083081 201084500 - 6480464 647219 M0R2M9;Q7RTU5 ABBA01027535;AI274185;AI791516;AL139159;AMYH01001640;NM_001270601 NP_001257530;Q7RTU5 Hs.143949;Hs.721460 bHLHa47 ASH-5;achaete-scute complex homolog 5 (Drosophila);achaete-scute homolog 5;class A basic helix-loop-helix protein 47;hASH5 protein-coding 33169 VALIDATED 1351055 ASD1 atrial septal defect 1 7240710 9610535 431 741 1350086 ASCC1 activating signal cointegrator 1 complex subunit 1 This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 10 10 10 pter-q25.3 67139520 67259405 - 73526284 73645700 - 73855790 73976892 - 1580863;5128512;6480464 16394250 19074642;15489334;14702039;12477932;12077347;10810093;10567404;17207965;16344560;16385451;19680556;21791690;21139048;21890473;21906983;19322201;21963094;23000965 51008 E9PJM2;E9PKM6;E9PL92;E9PM82;E9PQ44;E9PQZ6;E9PR40;F5H874;H0YCB3;H0YE76;H0YE79;H0YER2;Q8N9N2 AA805081;ABBA01020360;ABBA01020361;ABBA01020362;ABBA01020363;ABBA01020364;ABBA01020365;ABBA01020366;AC022392;AF132952;AK023436;AK094170;AK096409;AK124364;AK298302;AL359339;AL607035;AMYH01002820;AMYH01002821;AMYH01002822;AW006945;AY013290;BC012291;CD706699;CH471083;DA297980;DA582532;DA942671;DA951859;DC361917;NG_031890;NM_001198798;NM_001198799;NM_001198800;NR_045564 AAD27727;AAG45476;AAH12291;ADQ32766;BAC04299;BAG51193;BAG53282;BAH12754;EAW54444;EAW54445;EAW54446;EAW54447;NP_001185727;NP_001185728;NP_001185729;Q8N9N2 Hs.500007 1666750;1700932;1721073;1736020;1739587;2115005;2148615;2161901;2167187;2218258;5022578;5024039 ASCC1_4380;D10S1300E;D10S1349E;D10S1351E;D16S325;D1S1423;D9S1745E;G59519;RH104093;RH137;SHGC-5957;WI-17675 ASC1p50;CGI-18;RP11-150D20.4;p50 ASC-1 complex subunit P50;OTTHUMP00000019781;OTTHUMP00000019782;OTTHUMP00000019783;OTTHUMP00000019784;OTTHUMP00000229899;OTTHUMP00000229901;activating signal cointegrator 1 complex subunit 1;trip4 complex subunit p50 APPROVED protein-coding 24268 614215;614266 REVIEWED 736393 ASCL1 achaete-scute complex homolog 1 (Drosophila) This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008] 12 12 q23.2 101875594 101878421 + 103351452 103354294 + 1300289;1580863;2314146;2314147;6480464;7240710 8221886;16730914;11564418 10903890;8390674;19176379;19097999;18587322;18587321;18585058;18491256;18339843;18311112;17923682;17507989;16899352;16344560;16103883;16029117;16021468;15701827;15489334;15272537;15240857;14759067;14668716;14532329;12477932;12050665;11948117;11940670;11825874;11309412;11171979;10656681;9197246;9186001;9126746;8662987;8595908;11564735;21495212;20206680;11736660;12000752;12858003;15492808;16160079;18802035;19008346;19744316;20097173;20124469;20515335;8900141;8948587;20659153;20538960;20677557;23739972;21300955;20842449;21573214;21856745;22422124;22172490;21684625;21737174;20301600;23300791 429 P50553 ABBA01053222;AC026108;AK290539;AMYH01004704;AW071836;BC001638;BC002341;BC003134;BC004425;BC031299;CF454566;CH471054;DA005289;L08424;NG_008950;NM_004316 AAA58376;AAH02341;AAH03134;AAH04425;AAH31299;ABM85497;ABW03754;BAF83228;EAW97703;NP_004307;P50553 Hs.703025 1682213;1744039;1762319;1795402;1847801;2147997;2153903 ASCL1_704;G10653;GDB:384904;RH92884;SHGC-146165;STS-L08424;WI-9226 ASH1;HASH1;MASH1;bHLHa46 ASH-1;OTTHUMP00000242539;achaete scute protein;achaete-scute complex homolog-like 1 (drosophila);achaete-scute complex-like 1;achaete-scute homolog 1;class A basic helix-loop-helix protein 46 APPROVED protein-coding ENSG00000139352 738 00011 100790;209880 REVIEWED 1344771 ASCC3 activating signal cointegrator 1 complex subunit 3 6 6 6 q16 101600815 101973409 - 101063329 101435945 - 100956608 101329224 - 1580863;6480464 11256614;16381901;15489336;15146197;14702039;12477932;12077347;11230166;11076863;10218103;21145461;19913121;20628086;15231748;19615732;20379614;20453000;18029348;17000644;23022380;22055184;19596686;21139048;21890473;21906983;22566634;22586326;22505724 10973 E5RFZ0;J3KNJ4;Q8N3C0 ABBA01014466;ABBA01014467;ABBA01014468;ABBA01014469;ABBA01014470;AI803859;AJ223948;AK023189;AK299117;AK307903;AK315197;AL121965;AL133338;AL356122;AL513207;AL591585;AL834463;AMYH01016544;AY013288;BC014358;BC026066;BC039857;BC050681;BC125211;BC125212;BC130038;CH471051;CN255848;NM_006828;NM_022091;Z86062 AAG45474;AAH26066;AAH50681;AAI25212;AAI25213;AAI50216;BAG37637;BAG61172;CAA11679;CAD39122;CAL38260;EAW48449;EAW48450;NP_006819;NP_071374;Q8N3C0 Hs.486031 1646578;1671003;1672638;1718161;1718311;1727457;1727525;1752163;1774817;2122507;2146941;5021341;5491579;5492005 AFM176xg9;D6S1153E;D6S1409;G62986;G63020;MARC_10283-10284:998926151:3;MARC_21686-21687:1044297767:1;RH122848;RH122927;RH65182;RH67970;SGC38363;SHGC-106043;ksks1 ASC1p200;DJ467N11.1;HELIC1;MGC26074;RNAH;dJ121G13.4;p200 ASC-1 complex subunit P200;B630009I04Rik;OTTHUMP00000016904;OTTHUMP00000016905;RNA helicase family;activating signal cointegrator 1 complex subunit 3;helicase, ATP binding 1;trip4 complex subunit p200 protein-coding ENSG00000112249 18697 09980;16805 614217 VALIDATED 1347917 ASCC2 activating signal cointegrator 1 complex subunit 2 22 22 22 q12.1 13984318 14033974 - 28514600 28564254 - 30184597 30234293 - 6480464 18029348;16169070;15489334;15231748;14702039;12477932;12077347;10591208;9847074;8125298;16009131;20211142;15342556;21139048;21906983;22318606 84164 B1AH59;B1AH60;F2Z2W4;F8WAQ6;H7C395;H7C3Y4;Q9H1I8 AA765659;ABBA01055281;ABBA01055282;ABBA01055283;ABBA01055284;AC004882;AK022886;AK025241;AK222723;AK223033;AK303257;AL096741;AMYH01012702;AY013289;BC025368;BC032760;BP201867;BQ017078;BU508026;CH471095;NM_001242906;NM_032204;Z82171 AAG45475;AAH25368;BAB14293;BAB15089;BAD96443;BAD96753;BAH13926;CAH56409;EAW59842;EAW59843;EAW59844;EAW59845;EAW59846;EAW59847;EAW59848;NP_001229835;NP_115580;Q9H1I8 Hs.731754 5017627;5021878 ASCC2;ha1770 ASC1p100;p100 ASC 1 complex subunit P100;ASC-1 complex subunit P100;OTTHUMP00000070973;OTTHUMP00000199727;activating signal cointegrator 1 complex subunit 2;trip4 complex subunit p100 protein-coding ENSG00000100325 24103 16515 614216 VALIDATED 1316784 ASCL4 achaete-scute complex homolog 4 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008] 12 12 12 q23.3 107833712 107835971 + 106692292 106694545 + 108168162 108170421 + 6480464 22549224;15475265;14516699;12617822;12477932;19166906 121549 Q6XD76 ABBA01053147;AC007622;AI290227;AMYH01004727;AY238895;BC128211;BC128212;BK000275;NM_203436 AAI28212;AAI28213;AAP69222;DAA01055;NP_982260;Q6XD76 Hs.149910 2219010;5493333 ASCL4_4382;UniSTS:485742 HASH4;bHLHa44 ASH-4;OTTHUMP00000211168;achaete-scute complex-like 4;achaete-scute complex-like 4 (drosophila);achaete-scute homolog 4;achaete-scute-like protein 4;class A basic helix-loop-helix protein 44;class II bHLH protein ASCL4 APPROVED protein-coding ENSG00000187855 24311 12374 609155 VALIDATED 1314918 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008] 1 1 1 q22 128378194 128605465 - 153571676 153798948 - 155305052 155532324 - 1580863;6480464;6907045 22541069;10860993;18029348;17923682;17203973;16710414;16545939;16344560;15231748;15146197;10718198;17403666;21239497;19471022;21139048;21693764;22140534;22696682;22632162 55870 F8VWK7;H0YI82;Q9NR48 AB037841;AB209068;ABBA01016698;ABBA01016699;ABBA01016700;ABBA01016701;ABBA01016702;ABBA01016703;ABBA01016704;ABBA01016705;ABBA01016706;ABBA01016707;ABBA01016708;AF257305;AI912552;AK304873;AK307595;AL139410;AL353807;AMYH01001428;AMYH01001429;BQ883186;CH471121;CN365042;DA236222;NM_018489 AAF68983;AAI72595;BAA92658;BAD92305;BAG65610;EAW53068;NP_060959;Q9NR48 Hs.491060 1339295;1643984;1668327;1681020;1692258;1692352;1748885;1749649;1781416;1781418;1851266;2113676;2135570;2140355;2182121;5096755 AB063083;AL009474;AL033792;AL034034;ASH1L_2279;D1S2777;RH16337;RH45194;RH69490;RH93684;SHGC-110554;SHGC-111331;SHGC-111438;SHGC-111439;SHGC-35091;WI-15725 ASH1;ASH1L1;FLJ10504;KIAA1420;KMT2H ASH1-like protein;OTTHUMP00000015897;OTTHUMP00000015898;absent small and homeotic disks protein 1 homolog;histone-lysine N-methyltransferase ASH1L;lysine N-methyltransferase 2H;probable histone-lysine N-methyltransferase ASH1L APPROVED protein-coding ENSG00000116539 19088 06416 607999 REVIEWED 1323657 ASF1A ASF1 anti-silencing function 1 homolog A (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008] 6 6 q22.31 119263628 119272035 + 119215241 119230336 + 6480464 10759893;11897662;19029251;18971269;18378699;18096807;17328667;17293877;17292837;17054786;16980972;16344560;15840725;15664198;15621527;15213445;14718166;12842904;12477932;12093919;11470414;11230166;11042152;10810093;16189514;19862764;20308539;17207965;20800603;11172707;11256614;16169070;19305408;20016786;20227376;15073177;17242207;20393127;17940067;21414300;20504901;22863883;21347226;22407294;19410544;21807893;22247756;22401310;21113133;21724829;12660173;22951827 25842 Q9Y294 AA481056;AB028628;ABBA01026024;AF151856;AF161495;AF279306;AK025738;AL050261;AL132874;AMYH01016624;BC010878;CH471051;CR457347;DA902777;NM_014034 AAD34093;AAF29110;AAH10878;AAK82972;ADQ32460;BAA96542;BAB15228;CAB43363;CAG33628;EAW48193;NP_054753;Q9Y294 Hs.292316 1700536 RH103889 CGI-98;CIA;DKFZp547E2110;HSPC146 CCG1-interacting factor A;OTTHUMP00000218808;anti-silencing function 1A;anti-silencing function protein 1 homolog A;hAsf1;hAsf1a;hCIA;histone chaperone ASF1A APPROVED protein-coding ENSG00000111875 20995 16459 609189 REVIEWED 1343075 ASH2LP1 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 22 22 22 q11.22 6582634 6584044 + 21104714 21106124 + 22774714 22776124 + 9074928 266703 ABBA01055084;AMYH01012639;D87009;D87010;NG_000002 pseudo 19332 VALIDATED 6769643 ASH1L-AS1 ASH1L antisense RNA 1 1 q22 155531772 155533735 + 12477932 645676 ABBA01016697;ABBA01016698;AK126559;AL353807;AMYH01001429;AMYH01001430;AMYH01001431;BC009847;BC017347;BC065229;BC104640;BI916505;BX359981;NR_027023 BAC86594 Hs.568693 APPROVED miscrna ENSG00000235919 44146 VALIDATED 1343618 ASGR2 asialoglycoprotein receptor 2 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 p 6945365 6958852 - 7004641 7018130 - 1580863;6480464 3863106;11543633;16335952;15946216;15489334;21062743;12477932;12171918;12167617;12119473;12089159;11943787;8397210;7843709;2834401;1924301;1597447;1371982;20237496;19520807;18029348;10859341;12359251;12477859;18855599;19576873;19663694;20364278;20703846;21063834;21207081;7844558;9349295;11408579;21103663;21917589;21656538;22096539 433 I3L1H2;P07307;Q7Z4G9 ABBA01054848;ABBA01054849;ABBA01054850;AC120057;AF529374;AK303787;AK310123;AMYH01008068;BC017251;BM561839;BX483468;CH471108;DC315727;M11025;NG_029064;NM_001181;NM_001201352;NM_080912;NM_080913;NM_080914;U97197;X55283;X55284 AAB58308;AAB59519;AAH17251;AAQ09608;ABM83578;ABM86817;BAG64744;CAA38997;EAW90259;EAW90260;EAW90261;EAW90262;EAW90263;EAW90264;NP_001172;NP_001188281;NP_550434;NP_550435;NP_550436;P07307 Hs.654440 1681762;1771562;2122601 RH80271;STS-T67921;WI-11341 ASGP-R;ASGP-R2;ASGPR2;CLEC4H2;FLJ60040;HBXBP;HL-2;Hs.1259;L-H2 ASGP-R 2;ASGPR 2;C-type lectin domain family 4 member H2;C-type lectin domain family 4, member H2;HBxAg-binding protein;HL-2;OTTHUMP00000128352;OTTHUMP00000128353;asialoglycoprotein receptor 2;asialoglycoprotein receptor H2;hepatic lectin H2 APPROVED protein-coding ENSG00000161944 743 00152 108361 REVIEWED 737103 ASGR1 asialoglycoprotein receptor 1 This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 p13.2 7017474 7023386 - 7076750 7082883 - 1580863;6480464 8439566;11543633;10734069;15489334;12477932;12477859;12370180;12359251;12171918;12167617;12119473;11943787;10891274;10859341;3753585;2982798;2834401;1935897;1774077;16008586;19520807;20364278;16341674;20886072;15946216;16475991;18855599;1924301;19576873;19663694;19725223;20703846;21063834;21207081;7843709;7844558;9349295;21832049;22613667;22219600;18624398;21656538;22001757 432 I3L129;I3L1F8;I3L2S9;J3QSZ2;K7EPS5;P07306;Q6FGQ5 AB070933;ABBA01054851;ABBA01054852;AC120057;AK124286;AK308375;AK308677;AMYH01008070;BC032130;BM818592;BQ653541;BT019873;CH471108;CR542052;FJ410292;M10058;NM_001197216;NM_001671 AAA51785;AAH32130;AAV38676;ABM82956;ABM86147;ACQ90237;BAB83508;CAG46849;EAW90256;EAW90257;EAW90258;NP_001184145;NP_001662;P07306 Hs.12056;Hs.731669 1676043;2109067;2183824 ASGR1_8213;D17S2010;RH11640 ASGPR;ASGPR1;CLEC4H1;HL-1;Hs.12056 ASGP-R 1;ASGPR 1;C-type lectin domain family 4 member H1;C-type lectin domain family 4, member H1;HL-1;OTTHUMP00000128354;asialoglycoprotein receptor 1;hepatic asialoglycoprotein receptor 1;hepatic lectin H1 APPROVED protein-coding ENSG00000141505 742 00151 108360 REVIEWED 1312634 ASF1B ASF1 anti-silencing function 1 homolog B (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008] 19 19 p13.12 14091321 14108440 - 14230321 14247440 - 6480464 16751776;18378699;18096807;17353931;17328667;17054786;15664198;15146197;15020040;14702039;12842904;12477932;11897662;11470414;8125298;19913121;20628086;20133788;20227376;20016786;16980972;20953179;21179005;20651253;23178455;14718166;17940067;20504901;22939629;21987572;21139048;21890473;21906983;21113133;22407294;22505724 55723 K7EIL9;K7ELW9;K7EM93;K7ES22;Q9NVP2 AB104486;ABBA01029688;ABBA01029689;AC022098;AF279307;AK001288;AK001466;AK223080;AK302134;AMYH01009521;BC007726;BC010014;BC036521;CH471106;CN426445;CR457235;DQ587892;NM_018154 AAH07726;AAH10014;AAH36521;AAK82973;ACT64480;ACT64481;BAA91602;BAA91708;BAC87709;BAD96800;BAG63508;CAG33516;EAW84401;EAW84402;NP_060624;Q9NVP2 Hs.26516 1658265 WI-14108 CIA-II;FLJ10604 CCG1-interacting factor A-II;OTTHUMP00000197277;anti-silencing function protein 1 homolog B;hAsf1;hAsf1b;hCIA-II;histone chaperone ASF1B APPROVED protein-coding ENSG00000105011 20996 16460 609190 REVIEWED 736018 ASIC5 acid-sensing (proton-gated) ion channel family member 5 This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 154082485 154119021 - 156970331 157006875 - 156750881 156787425 - 1580863;6480464 10767424 51802 Q9NY37 ABBA01070177;AC093830;AC125334;AJ252011;AMYH01014636;CH471056;NM_017419 AAI40357;AAI46498;CAB85607;EAX04887;NP_059115;Q9NY37 Hs.381349 1772236;2126980;2138515 D4S1370;D4S829;G34226 ACCN5;HINAC;INAC OTTHUMP00000220876;acid-sensing ion channel 5;amiloride-sensitive cation channel 5;amiloride-sensitive cation channel 5, intestinal;amiloride-sensitive sodium channel;human intestine Na(+) channel APPROVED protein-coding ENSG00000256394 17537 16470 REVIEWED 1353665 ASIC3 acid-sensing (proton-gated) ion channel 3 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 7 7 q35 150376885 150380774 + 150745379 150749843 + 1580863;6480464 9744806;9571199;18854755;17012229;15574747;15471860;15317815;12690205;12578970;12477932;12060708;11872753;11842212;11587714;10842183;9886053;22702502;22829666;20416288;20693874;19885742;21092862;22809504;21586569;22157923;22854960 9311 H7C4W0;H7C5N6;Q9UHC3 A82593;A82597;A82786;AACC02000108;AB010575;AB209421;ABBA01035167;AC010973;AF057711;AF095897;AF195024;AF195025;AI580095;AK128129;AK313926;AMYH01018142;BC030282;CH471173;NM_004769;NM_020321;NM_020322;NR_046401 AAC62935;AAC64188;AAF19817;AAF19818;AAI56797;BAA25897;BAD92658;BAG36647;CAB69243;CAB69244;CAB69252;EAL24495;EAL24496;EAL24497;EAW54052;EAW54053;EAW54054;EAW54055;NP_004760;NP_064717;NP_064718;Q9UHC3 Hs.647113 5113208 RH92393 ACCN3;DRASIC;SLNAC1;TNaC1 OTTHUMP00000213253;OTTHUMP00000213254;OTTHUMP00000213255;OTTHUMP00000213256;OTTHUMP00000213257;acid-sensing ion channel 3;amiloride-sensitive cation channel 3;amiloride-sensitive cation channel 3, testis;hASIC3;hTNaC1;modulatory subunit of ASIC2a;neuronal amiloride-sensitive cation channel 3;proton-gated cation channel subunit;testis sodium channel 1 APPROVED protein-coding ENSG00000213199 101 10626 611741 REVIEWED 1313775 ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) 8 8 p11.2 38082168 38116385 + 37963011 37997598 + 1580863;6480464 12670868;17500065;17612494;17846119;17925232;21285357;10393421;11466562;14992727;15199122;19131338;18245475;16892064;16189514;15761153;15489334;15231748;12482968;12477932;16169070;16510874;17998332;16253997;16603732;17355966;17761849;18082152;18680430;19187761;19433449;19556245;19896696;20064463;20085832;20093773;20150277;20208542;21124902;15960974;16159877;16510875;16713563;17050672;18026121;18066051;19047629;20211142;22939629;22990118;21220120;21445285;19660582;20516061;20937768;21642971;19136632;21660059;20305087;21139048;21502505;21531708;21890473;17825402;21382349;21988832;23453805;21884981;22231628;22665483;21653943;16344560;22267201;18838538;23307926 9070 E5RFH5;E5RHM1;F5H8F7;H0YAQ0;H0YBF6;Q9UBL3 AB020982;AB022785;ABBA01023551;AC084024;AF056717;AF056718;AK291750;AK291938;AK293699;AK298483;AK311336;AMYH01018653;AP006545;AW962440;BC015936;CA417078;CH471080;DA156139;DC326351;DC353644;DC396707;NM_001105214;NM_001261832;NM_004674;NR_049736 AAC13563;AAC13564;AAH15936;BAA35127;BAA74520;BAF84439;BAF84627;BAG57134;BAG60693;EAW63336;EAW63337;EAW63338;EAW63339;EAW63340;NP_001098684;NP_001248761;NP_004665;Q9UBL3 Hs.521530 1649254;1701332;1774274;2131659;2134286;2217038;5095046 ASH2L;ASH2L_3207;D6S1405;NIB1979;RH104296;RH35988;SHGC-58272 ASH2;ASH2L1;ASH2L2;Bre2 ASH2-like protein;OTTHUMP00000225574;OTTHUMP00000225578;OTTHUMP00000225579;set1/Ash2 histone methyltransferase complex subunit ASH2 protein-coding ENSG00000129691 744 05309 604782 VALIDATED 1352939 ASLP1 argininosuccinate lyase pseudogene 1 22 22 22 q11.23 7830243 7834634 - 22321253 22325638 - 23991155 23995546 - 436 ABBA01055117;AMYH01012646;AP000346;NG_002637 2148536;2157866 RH46913;WI-22687 ASLL APPROVED pseudo 747 INFERRED 737359 ASIC2 acid-sensing (proton-gated) ion channel 2 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012] 17 17 q12 28364218 29507938 - 31340105 32483825 - 1298644;1300338;1580863;1300241;6480464 8921408;734884;625485 8626462;11802773;19091960;17553932;17548344;17534430;17376794;16704974;15504740;15489334;15471860;12477932;11739374;10842183;9360943;9037075;8631835;20201926;20379614;20306292;20677014;21378988;22157923;21961650;21811305;21810271;22493691;23251661 40 Q16515 ABBA01000736;ABBA01000737;ABBA01011210;AC003687;AC004147;AC008133;AC011824;AC015751;AC024610;AC024614;AC025898;AC027233;AC078907;AC123769;AK127748;AK313043;AL834182;AMYH01008347;AMYH01008348;AMYH01008349;AMYH01008350;BC075042;BC075043;CH471147;NG_029763;NM_001094;NM_183377;U50352;U53212;U57352 AAB49182;AAC50432;AAC50498;AAH75042;AAH75043;ABZ92042;BAG35875;BAG54565;CAD38879;EAW80216;NP_001085;NP_899233;Q16515 Hs.368417 1337065;1342106;1649703;1677927;1680894;1680918;1682221;1689061;1707052;1710822;1711936;1717693;1718963;1726253;1726269;1726429;1752483;1761797;1762195;1763721;1779686;1780142;1783538;1783552;1783572;1783594;1787810;1847635;1850245;1856366;2108573;2114106;2116200;2116984;2126577;2129455;2143611;2179531;2181217;2183327;2187825;2187827;2187829;2187831;2187833;2187839;2187841;2187843;2187845;5093708 AB056819;D17S1316;D17S1540;D17S1656;D17S1694;D17S1850;D17S2139;D17S2194;FB6F10;G09780;G09898;G28628;G32877;G42370;G49579;G62513;G62594;G72117;G72118;G72119;G72120;G72121;G72122;G72123;G72124;G72125;RH122277;RH123189;RH28431;RH48684;RH66290;RH67569;RH76641;RH92493;RH93845;SHGC-106373;SHGC-145757;SHGC-146075;SHGC-147393;SHGC-153663;SHGC-153682;SHGC-154441;SHGC-154446;SHGC-155068;SHGC-156229;SHGC-173267;SHGC-81279;SHGC-84158;STS-AA019851;TLK2_8170 ACCN;ACCN1;ASIC2a;BNC1;BNaC1;MDEG;hBNaC1 OTTHUMP00000163794;acid-sensing ion channel 2;amiloride-sensitive brain sodium channel;amiloride-sensitive cation channel 1;amiloride-sensitive cation channel 1, neuronal;amiloride-sensitive cation channel neuronal 1;brain sodium channel 1;degenerin;mammalian degenerin homolog;neuronal amiloride-sensitive cation channel 1 APPROVED protein-coding ENSG00000108684 99 03471 601784 REVIEWED 1350953 ASMD anterior segment mesenchymal dysgenesis 7240710 437 749 107250;610256 69199 ASIP agouti signaling protein In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008] 20 20 q11.2-q12 32311832 32320809 + 32848171 32857148 + 1625724;1580863;2313999;2314006;1357925;6480464;6484113 7987393;14633851;10426381;15189116 7757071;7937887;19384953;19382693;18637131;18563784;18488028;18488027;17952075;17525122;16704456;16091846;15998953;15726415;15701517;15489334;15016309;12519127;12477932;12055320;11833005;22447455;11780052;22628150;11447115;9761782;9058374;19710684;20831872;19913121;20585627;20628086;21221757;23548203;21983787;22976474 434 P42127 ABBA01019206;AL035458;AMYH01011862;BC104238;BC104239;CH471077;L37019;NG_011439;NM_001672;U12775 AAA89208;AAB61247;AAI04239;AAI04240;EAW76282;NP_001663;P42127 Hs.659995 1658163;2145834;2161839 BCD1491;SHGC-36988;Z94291 AGSW;AGTI;AGTIL;ASP;MGC126092;MGC126093;SHEP9 OTTHUMP00000030681;agouti;agouti (mouse)-signaling protein;agouti signaling protein, nonagouti homolog;agouti switch protein;agouti-signaling protein;nonagouti homolog 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431;2316052 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H;GLUCO208_H APPROVED protein-coding ENSG00000101440 745 02562 600201;611742 REVIEWED 1604616 ASIC4 acid-sensing (proton-gated) ion channel family member 4 This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012] 2 2 2 q35 214148884 214173457 + 220087296 220111738 + 220378892 220403494 + 6480464 15815621;10852210;18662336;17207965;15489334;12477932;11571555;9847074 55515 Q96FT7 ABBA01023840;AC009955;AC053503;AC139723;AJ271643;AJ408881;AK308804;AK309373;AMYH01011509;BC010439;BC031812;BC073912;CH471063;EL736952;NM_182847 AAH10439;AAH31812;AAY15054;ABM83030;CAB93980;CAC51338;EAW70760;EAW70761;EAW70762;EAW70763;NP_878267;Q96FT7 Hs.87469 1708950;1799166;1799334;1800130;1802098;1803098;1803860;1808420;1808928;1810900;1812700;1816888;1819886;1821900;1824854;1826130;1826388;1826842;1827776;1828036;1828358;1828846;1829926;1830974;1834522;1837280;1841592;1842306;1842694;1842836;1843076;1964564;1964566;1964568;1964570;1964572;1964574;1964576;1964578;1964580;1964582;1964584;1964586;1964588;1964590;1964592;1964594;1964596;1964598;1964600;1964602;1964604;1964606;1964608;1964610;1964612;1964614;1964616;1964618;1964620;1964622;1964624;1964626;1964628;1964630;1964632;1964634;1964636;1964638;1964640;1964642;1964644;1964646;1964648;1964650;1964652;1964654;1964656;1964658;1964660;1964662;1964664;1964666;1964668;1964670;1964672;1964674;1964676;1964678;1964680;1964682;1964684;1964686;1964688;1964690;1964692;1964694;1964696;1964698;1964700;1964702;1964704;1964706;1964708;1964710;1964712;1964714;1964716;1964718;1964720;1964722;1964724;1964726;1964728;1964730;1964732;1964734;1964736;1964738;1964740;1964742;1964744;1964746;1964748;1964750;1964752;1964754;1964756;1964758;1964760;1964762;1964764;1964766;1964768;1964770;1964772;1964774;1964776;1964778;1964780;1964782;1964784;1964786;1964788;1964790;1964792;1964794;1964796;2108687;2214004;2214006;2214008;2214010;2214012;2214014;2214016;2214018;2214020;2214022;2214024;2214026;2214028;2214030;2214032;2214034;2214036;2214038;2214040;2214042 ACCN4_8063;ECD00429;ECD00516;ECD00921;ECD01931;ECD02440;ECD02842;ECD05191;ECD05447;ECD06448;ECD07361;ECD09490;ECD11013;ECD12036;ECD13526;ECD14175;ECD14308;ECD14536;ECD15010;ECD15141;ECD15304;ECD15550;ECD16096;ECD16623;ECD18409;ECD19807;ECD21993;ECD22356;ECD22554;ECD22625;ECD22746;REN53156;REN53157;REN53158;REN53159;REN53160;REN53161;REN53162;REN53163;REN53164;REN53165;REN53166;REN53167;REN53168;REN53169;REN53170;REN53171;REN53172;REN53173;REN53174;REN53175;REN53176;REN53177;REN53178;REN53179;REN53180;REN53181;REN53182;REN53183;REN53184;REN53185;REN53186;REN53187;REN53188;REN53189;REN53190;REN53191;REN53192;REN53193;REN53194;REN53195;REN53196;REN53197;REN53198;REN53199;REN53200;REN53201;REN53202;REN53203;REN53204;REN53205;REN53206;REN53207;REN53208;REN53209;REN53210;REN53211;REN53212;REN53213;REN53214;REN53215;REN53216;REN53217;REN53218;REN53219;REN53220;REN53221;REN53222;REN53223;REN53224;REN53225;REN53226;REN53227;REN53228;REN53229;REN53230;REN53231;REN53232;REN53233;REN53234;REN53235;REN53236;REN53237;REN53238;REN53239;REN53240;REN53241;REN53242;REN53243;REN53244;REN53245;REN53246;REN53247;REN53248;REN53249;REN53250;REN53251;REN53252;REN53253;REN53254;REN53255;REN53256;REN53257;REN53258;REN53259;REN53260;REN53261;REN53262;REN53263;REN53264;REN53265;REN53266;REN53267;REN53268;REN53269;REN53270;REN53271;REN53272;SHGC-79532;stSG633053;stSG633054;stSG633055;stSG633056;stSG633057;stSG633058;stSG633059;stSG633062;stSG633063;stSG633064;stSG633065;stSG633066;stSG633067;stSG633068;stSG633069;stSG633070;stSG633071;stSG633072;stSG633073;stSG633074 ACCN4;BNAC4;MGC17248;MGC24860 OTTHUMP00000064871;OTTHUMP00000064872;acid-sensing ion channel 4;amiloride-sensitive cation channel 4;amiloride-sensitive cation channel 4, pituitary;amiloride-sensitive cation channel family member 4, pituitary;brain sodium channel 4 APPROVED protein-coding ENSG00000072182 21263 16231 606715 REVIEWED 731360 ASIC1 acid-sensing (proton-gated) ion channel 1 This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 12 12 q12 48737754 48763661 + 50451420 50477405 + 1298544;1300339;1580863;1300242;6480464 9037075;734886;704418 11802773;9062189;19185346;18662336;18514062;18349698;17984098;17548344;17443677;17392378;17324378;15952105;15738111;15576453;15574747;15489334;15471860;15247234;14988500;12578970;12477932;12393854;12244121;11988176;11748227;11739374;11512022;11448963;10798398;10362604;9360943;8685718;22157923;20371317;19561078;19654327;20048170;20215117;20216553;20299463;20306292;20601429;21036899;21176140;21346156;8889548;21664108;23048040;23224900 41 A8K1U5;F8VSK4;H0YHD6;H7C1W9;P78348 ABBA01031553;ABBA01031554;AC025154;AK290010;AK293960;AK311047;AMYH01004450;AW451342;BC013891;BC028722;BC133707;BM981170;CH471111;DR003232;EU078959;HM991481;NM_001095;NM_001256830;NM_020039;NR_046389;U78180;U78181 AAB48980;AAB48981;AAH13891;AAI33708;ABU48925;ADP44689;BAF82699;BAG57332;EAW58116;EAW58117;EAW58118;EAW58119;NP_001086;NP_001243759;NP_064423;P78348 Hs.274361 1666176;2106945;2175612 ACCN2_7741;RH70705;WI-22480 ACCN2;ASIC;ASIC1A;BNaC2;hBNaC2 ACCN2 variant 3;Cation channel, amiloride-sensitive, neuronal, 2;OTTHUMP00000242165;OTTHUMP00000242166;OTTHUMP00000242773;OTTHUMP00000242774;acid-sensing ion channel 1;acid-sensing ion channel 1a protein;amiloride-sensitive cation channel 2, neuronal;brain sodium channel 2 APPROVED protein-coding ENSG00000110881 100 04182 602866 REVIEWED 731559 ASL argininosuccinate lyase This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 q11.21 65178211 65195765 + 65540776 65558330 + 1599263;1302509;1599265;734610;1599267;1580863;1300048;2314010;2300098;70249;4142785;4110824;6480464;6907045;7240710 17198704;12408190;10652239;2263616;10353334;16121806;4062872;11779202;20805789;20567615 282632;17326097;16189514;15489334;12512996;12477932;12384776;11747433;11747432;9256435;6784763;3463959;3391281;3368457;2644168;2045097;1705937;19703900;20739017;20937351;22863883;21988832;21906983;21667091;21290785;22531684 435 F8W943;P04424 AACC02000112;ABBA01049004;AC068533;AF376770;AI469765;AK300519;AK310912;AK316334;AMYH01017483;AY203938;BC008195;BC033146;BQ949510;BU634268;BX328836;CH236961;CH471140;J03058;M14218;M21007;M57638;NG_009288;NM_000048;NM_001024943;NM_001024944;NM_001024946;Y00753 AAA35566;AAA51786;AAA51787;AAA51788;AAH08195;AAH33146;AAL57276;AAP34461;BAG62231;BAH14705;CAA68722;EAX07944;EAX07945;EAX07946;NP_000039;NP_001020114;NP_001020115;NP_001020117;P04424 Hs.632015 1786256;2147529;2148536;2157866;5016478;5124479 ASL;GDB:434012;RH46913;RH79831;SHGC-144290;WI-22687 ASAL OTTHUMP00000159903;OTTHUMP00000210324;OTTHUMP00000210325;OTTHUMP00000210326;OTTHUMP00000210327;argininosuccinase;argininosuccinate lyase;arginosuccinase APPROVED protein-coding ENSG00000126522 746 01948 207900;608310 REVIEWED 1346746 ASNSP1 asparagine synthetase pseudogene 1 8 8 8 q11.1 43489381 43510469 - 47610000 47645724 - 47490828 47529361 - 389652 ABBA01018436;AC093368;AC104576;AMYH01018700;NG_007178 2066270;2170641 D8S1585;REN104321 ASNSL1 APPROVED pseudo 754 INFERRED 1352956 ASNSP2 asparagine synthetase pseudogene 2 21 p11.2 9742188 9742343 + 10830953 442 AMYH01012120;CR381670;NG_029775 ASNSL2 APPROVED pseudo 755 INFERRED 4889736 ASNSP3 asparagine synthetase pseudogene 3 13 13 q32 81559083 81560403 - 100714551 100715871 - 100423061 ABBA01027094;AL355338;AMYH01005334;NG_021205 pseudo 39399 INFERRED 4889697 ASNSP4 asparagine synthetase pseudogene 4 8 8 43593546 43594601 + 47609252 47610307 + 100419423 ABBA01018437;AC104576;AMYH01018700;NG_026098 pseudo 39400 INFERRED 6481559 ASNSP5 asparagine synthetase pseudogene 5 1 142799587 142799739 + 100873794 AMYH01001005;BX572084;NG_032287 pseudo 39401 INFERRED 1345758 ASMTL-AS1 ASMTL antisense RNA 1 This gene serves as the antisense to the acetylserotonin O-methyltransferase-like gene. Multiple non-coding transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] X X;Y p22.33; Yp11.32 1480380 1492584 + 1519424 1534314 + 14702039;12477932 80161 ABBA01055726;AF193043;AK023392;AL683870;AMYH01021995;AMYH01021996;BC093994;CH471074;NG_030331;NR_026710;NR_026711 AAG22471;BAB14557;EAW98681 Hs.521856 1676550;2119248 RH66350;STS-F04211 ASMTL-AS;ASMTLAS;CXYorf2;FLJ13330;NCRNA00105 APPROVED miscrna 25811 06522 VALIDATED 1353638 ASMT acetylserotonin O-methyltransferase This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010] X;Y X;Y p22.3 or Yp11.3 1674348 1721974 + 1664348 1711974 + 1580863;6480464;6907045 8397829;17957233;17505466;15772651;15489334;12734775;12477932;11339514;8098975;7989373;1878930;21251267;20377855;20418777;20433639;20442744;22694957;21437622;21778461;21615493;23349736 438 I7HFW6;P46597 ABBA01055709;ABBA01055710;ABBA01055711;ABBA01055712;ABBA01055713;AK314922;AL683807;AMYH01022001;AMYH01022002;AMYH01022003;BC001620;CH471074;M83779;NG_016337;NM_001171038;NM_001171039;NM_004043;U11090;U11091;U11098 AAA17020;AAA58582;AAA58583;AAA75289;AAA75290;AAA75291;AAH01620;BAG37430;EAW98685;EAW98686;NP_001164509;NP_001164510;NP_004034;P46597 Hs.522572 1683403;1748463;1848069;1852802;2177147;5017879 CXYorf3;DXYS155E;RH69211;RH71197;SHGC-5417;SHGC-64829 ASMTY;HIOMT;HIOMTY OTTHUMP00000022834;OTTHUMP00000022835;OTTHUMP00000022836;acetylserotonin N-methyltransferase;acetylserotonin O-methyltransferase;acetylserotonin methyltransferase (Y chromosome);hydroxyindole O-methyltransferase APPROVED protein-coding ENSG00000196433 750 02058 300015;402500 REVIEWED 1603641 ASNSD1 asparagine synthetase domain containing 1 2 2 2 p24.3-q21.3 184121046 184130465 + 190234391 190243800 + 190526125 190535557 + 6480464 16534843;16344560;12477932;21906983;22797925 54529 C9IYZ1;C9J6C1;Q9NWL6 AB075481;ABBA01062379;AC012488;AK000759;AMYH01011344;AY116969;BC001243;CH471058;DA771653;NM_019048 AAH01243;AAM77212;AAX88843;BAA91364;BAE45745;EAX10898;EAX10899;EAX10900;NP_061921;Q9NWL6 Hs.101364 1718133;1734876;1734896;1775792;1854261;1858179;2109577;2171663 A002V47;D2S1634E;D2S1669E;NS3TP1_9795;RH122834;RH17929;RH18336;RH48880 FLJ20752;NBLA00058;NS3TP1 HCV NS3-transactivated protein 1;OTTHUMP00000163500;OTTHUMP00000205600;asparagine synthetase domain-containing protein 1 protein-coding ENSG00000138381 24910 17645 VALIDATED 1317371 ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011] 19 19 q13.3 12709306 12720137 + 12848306 12859137 + 1580863;6480464 20676083;8884272;9736449;17382883;17289575;15489334;12477932;10696239;9712828;8125298;21296983;18667436;19615732;19724867;20375064;20516149;22863883;23041287;21444755;21078624;21878631;20435896;21139048;21900206;21906983;22505607;21963094;23246001;23460677 439 K7ERW9;O43681 ABBA01029774;ABBA01029775;ABBA01029776;ABBA01029777;AC018761;AF047469;AK223363;AK291855;AK293588;AMYH01009495;AY304483;BC002651;BG426136;CH471106;NM_004317;U60276 AAC03551;AAC50731;AAH02651;AAP45050;ADZ15365;BAD97083;BAF84544;BAG57056;EAW84303;NP_004308;O43681 Hs.465985 1773667;1788482;1788484;2107861;2128167 ASNA1_8216;G67558;G67559;RH70684;STS-H08525 ARSA-I;ARSA1;ASNA-I;GET3;MGC3821;TRC40;hASNA-I ATPase ASNA1;arsenical pump-driving ATPase;arsenite-stimulated ATPase;golgi to ER traffic 3 homolog;hARSA-I;hASNA-I;transmembrane domain recognition complex 40 kDa ATPase subunit;transmembrane domain recognition complex, 40kDa APPROVED protein-coding ENSG00000198356 752 03555 601913 VALIDATED 1343754 ASNS asparagine synthetase (glutamine-hydrolyzing) The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 7 7 q21.3 97319376 97339732 - 97481429 97501854 - 1580863;2316006;6480464;6907045 10081 2564390;2569668;2886907;16023613;10085239;17409444;19414379;19054556;18940792;18852115;18840095;17380207;17276738;17088436;16598302;16344560;15674423;15489334;15385533;12949534;12853948;12690205;12477932;12351626;12097650;11960987;11867623;9847074;8093451;7904551;6137879;3470743;2714790;2573597;2565875;16169070;21145461;21319273;19035175;20562859;16196087;20561401;22863883;22978410;22939629;22318606;22586326;20639865;21139048;21890473;21906983;19738201;19805454;21505976;21963094;22623428;23000965;23275563;23403946 440 C9J057;C9J605;C9JLA3;C9JLN6;C9JM09;C9JT45;F8WEJ5;Q15666 AA948141;ABBA01045743;ABBA01045744;AC005326;AC079781;AK000379;AK302189;AK302242;AK316224;AMYH01017709;BC008723;BC014621;BG718826;BT007113;BX104871;CH236949;CH471091;DA160359;DA661624;DA961373;DB483248;DC297828;L35946;M15798;M27054;M27396;NM_001178075;NM_001178076;NM_001178077;NM_001673;NM_133436;NM_183356 AAA36781;AAA51789;AAA52756;AAA63266;AAH08723;AAH14621;AAP35777;AAQ96856;ABM83944;ABM87262;BAG63553;BAG63594;BAH14595;EAL24115;EAW76723;EAW76730;EAW76731;EAW76732;EAW76733;NP_001171546;NP_001171547;NP_001171548;NP_001664;NP_597680;NP_899199;P08243 Hs.489207 1687708;2109069;2126743;5115132 ASNS;ASNS_8217;RH79681;WI-20023 TS11 OTTHUMP00000024510;OTTHUMP00000204938;OTTHUMP00000204939;OTTHUMP00000204940;OTTHUMP00000204941;OTTHUMP00000204942;TS11 cell cycle control protein;asparagine synthetase;asparagine synthetase [glutamine-hydrolyzing];glutamine-dependent asparagine synthetase APPROVED protein-coding ENSG00000070669 753 00153 108370 REVIEWED 1315744 ASMTL acetylserotonin O-methyltransferase-like The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X;Y X;Y p22.3; Yp11.3 1482032 1531844 - 1472032 1522655 - 1580863;6480464 16189514;15489334;14702039;12477932;8889548;8125298;9736779;17081983;16344560;21832049;22863883;18029348;21890473;21906983;19850743 8623 B3KM43;E7ER97;O95671 ABBA01055724;ABBA01055725;ABBA01055726;AK001090;AK090498;AK225770;AK297805;AK299231;AK301844;AL683870;AMYH01021996;AMYH01021997;BC002508;BC010089;BM021926;BM129217;BU688748;CH471074;DA005122;DA301876;DA904467;NG_016772;NM_001173473;NM_001173474;NM_004192;Y15521 AAH02508;AAH10089;ADZ15744;BAC03468;BAG50855;BAG60143;BAG61263;BAG63287;CAA75675;CAA75676;EAW98682;NP_001166944;NP_001166945;NP_004183;O95671 Hs.533514 1676550;2119248 RH66350;STS-F04211 ASMTLX;ASMTLY;ASTML N-acetylserotonin O-methyltransferase-like protein;OTTHUMP00000022824;OTTHUMP00000022825;acetylserotonin N-methyltransferase-like APPROVED protein-coding ENSG00000169093 751 02156 300162;400011 REVIEWED 1344860 ASPG asparaginase homolog (S. cerevisiae) 14 14 14 q32.33 84606252 84633128 + 103621801 103648678 + 104552023 104579046 + 6480464 12477932;21063096;22861376 374569 G3V1Y8;H0YHD3;H0YHG5;Q86U10 ABBA01048391;AL136001;AMYH01006056;AW024833;AX781433;AX781435;BC035836;BC136637;BM544197;BX247999;BX280385;BX407951;CH471061;NM_001080464 AAH35836;AAI36638;CAD62331;CAE11776;CAE11778;EAW81859;NP_001073933;Q86U10 Hs.146239 C14orf76;GPA/WT 60 kDa lysophospholipase;OTTHUMP00000242688;OTTHUMP00000242691;wild-type L-asparaginase protein-coding ENSG00000166183 20123 VALIDATED 1605752 ASPDH aspartate dehydrogenase domain containing 19 19 19 q13.33 48066159 48069272 - 55706673 55709759 - 51014857 51017947 - 6480464 12477932;8889548;17207965 554235 A6ND91;M0QYD4;M0QZ80 ABBA01068319;AC008743;AMYH01009940;BC066359;BM695973;BM924033;BU729215;CH471135;NM_001024656;NM_001114598 A6ND91;AAH66359;ADQ32053;EAW71878;EAW71879;EAW71880;EAW71881;EAW71882;EAW71883;NP_001019827;NP_001108070 Hs.436338 aspartate dehydrogenase domain-containing protein;putative L-aspartate dehydrogenase protein-coding ENSG00000204653 33856 18692 VALIDATED 1350952 ASPA aspartoacylase This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 p13.3 3326046 3349450 + 3377404 3402700 + 1599291;1599298;1601247;1580863;6480464;6907045;7240710 8252036;15857674;16707098 18293939;18264947;17391648;17194761;17027983;16935940;16669630;16437572;16189514;15489334;22219087;22019069;14699612;12706335;12638939;12477932;12205125;10909858;10837925;10564886;9407392;8659549;8088831;8023850;7668285;7599639;3116332;27051;18029348;20201926;20301412;22468686;22750302;23049088 443 I3L0T3;I3L4M0;P45381;Q6FH48 ABBA01054737;ABBA01054738;AC025125;AK312901;AMYH01008030;BC010941;BC029128;CH471108;CR541908;NG_008399;NM_000049;NM_001128085;S67156;S74727 AAB29190;AAD14981;AAH29128;ABM83005;ABM86198;BAG35747;CAG46706;EAW90506;EAW90507;NP_000040;NP_001121557;P45381 Hs.171142 1652794;1663106;1718779;1743907;2127401 D17S2054;GDB:375371;RH123093;RH17906;STS-H83906 ACY2;ASP ACY-2;Canavan disease;OTTHUMP00000115814;aminoacylase 2;aminoacylase-2;aspartoacylase;aspartoacylase (Canavan disease);aspartoacylase (aminoacylase 2, canavan disease) APPROVED protein-coding 756 02033 271900;608034 REVIEWED 1605839 ASPHD1 aspartate beta-hydroxylase domain containing 1 16 16 16 p11.2 72879828 72885036 - 29819648 29824878 + 29912147 29917377 + 6480464 15489334;12477932;9110174;8619474 253982 I3L2A5;I3L2Y2;Q5U4P2 ABBA01013111;ABBA01013112;ABBA01013113;ABBA01013114;ABBA01013115;ABBA01013116;AC120114;AF070642;AMYH01007495;BC009033;BC029136;BC034275;BC040933;BC085011;BC126319;BC126321;BC144152;BU193236;CH471238;NM_181718 AAH09033;AAH29136;AAH34275;AAH40933;AAH85011;AAI26320;AAI26322;AAI44153;ADR83156;EAW79971;EAW79972;NP_859069;Q5U4P2 Hs.655761 1676912;1679027;1682726;1730407;1772619;2151310;2181778 D16S3185;D16S425E;RH11802;RH64895;RH78940;SHGC-60606;UniSTS:67512 OTTHUMP00000163001;aspartate beta-hydroxylase domain-containing protein 1 protein-coding ENSG00000174939 27380 14139 VALIDATED 1323751 ASPH aspartate beta-hydroxylase This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] 8 8 q12.1 62578374 62789560 - 62413115 62627199 - 1580863;2325824;6480464;6902945 16673309;21898484 11007777;7821814;10974562;19200576;19087304;18288418;17156427;17020779;16949909;16564107;16341145;16154531;15302935;15302852;12713872;12477932;12130746;12118090;11069905;10956665;10767180;9287354;8823296;11991713;16344560;19663697;8889548;16341674;20562859;16712791;21145461;14702039;17207965;19197126;17500595;21832049;18781797;21139048;21890473;21906983;22123818;21862239;22586105;15041652;17569730;17400717;18387192;19403607;19567751 444 B4DQ07;B7ZM96;E5RG29;E5RG56;E5RHJ2;E5RHK2;E5RJL3;G3XAN5;Q6NXR7 ABBA01041825;ABBA01041826;ABBA01041827;AC067881;AC090094;AF184241;AF224468;AF224469;AF289489;AF306765;AF339775;AK096383;AK291836;AK295528;AK298577;AK304314;AMYH01018760;AMYH01018761;BC015518;BC025236;BC066929;BC142967;BC144362;BC144363;BI793083;BM785890;BU623111;BU741737;BX102882;CA420254;CB115846;CB122028;CH471068;CR996516;DA136318;DN993915;EU718494;FJ461473;N83868;NG_013210;NM_001164750;NM_001164751;NM_001164752;NM_001164753;NM_001164754;NM_001164755;NM_001164756;NM_004318;NM_020164;NM_032466;NM_032467;NM_032468;S83325;U03109 AAA82108;AAB50779;AAF82246;AAF82247;AAG16983;AAG40811;AAG42257;AAH15518;AAH25236;AAH66929;AAI42968;AAI44363;AAI44364;AAI66658;ACD93450;ACK37363;ADQ32246;BAF84525;BAG58441;BAG60769;BAG65166;EAW86840;EAW86841;EAW86842;EAW86843;EAW86844;EAW86845;EAW86846;EAW86847;EAW86848;EAW86849;NP_001158222;NP_001158223;NP_001158224;NP_001158225;NP_001158226;NP_001158227;NP_001158228;NP_004309;NP_064549;NP_115855;NP_115856;NP_115857;Q12797 Hs.332422 1664224;1680371;1687303;1735744;1735768;1740025;1773822;1786540;1786594;1849926;1851045;1854793;2122198;2122200;2126038;2145480;2167965;2185470;2186937 A006X24;D8S1359E;D8S1374E;D8S1514;D8S1596;D8S1685;NIB322;RH12812;RH48484;RH66163;RH66780;RH91152;RH91181;SHGC-108120;SHGC-142338;SHGC-24147;SHGC-32770;WI-11767;WI-15471 AAH;BAH;CASQ2BP1;HAAH;JCTN;junctin A beta H-J-J;ASP beta-hydroxylase;OTTHUMP00000226573;OTTHUMP00000226574;OTTHUMP00000226610;OTTHUMP00000226611;OTTHUMP00000226612;OTTHUMP00000226613;OTTHUMP00000226615;OTTHUMP00000226619;OTTHUMP00000227490;OTTHUMP00000230645;OTTHUMP00000230646;OTTHUMP00000230647;aspartyl/asparaginyl beta-hydroxylase;aspartyl/asparaginyl-beta-hydroxylase;cardiac junctin;humbug;junctate;peptide-aspartate beta-dioxygenase APPROVED protein-coding ENSG00000198363 757 08996 600582 REVIEWED 1345823 ASPN asporin This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 9 9 q22 94258308 94284609 - 95218487 95244844 - 1580863;6480464;7240710 17517696;19327154;18452398;18434216;18336287;18304494;18178444;17827158;17804408;17603749;22367347;17195216;17024313;16707531;16632759;16542493;16255042;15640800;14702039;12975309;12477932;11587855;11152695;11152692;15342556;19589127;19997821;20144272;20939878;21413025;21528154;21329514 54829 B4E2Z7;C9JGC9;Q05CQ6;Q5TBF2;Q9BXN1 ABBA01018585;AF316824;AI741321;AK000136;AK027359;AK172737;AK304501;AK308107;AL137848;AMYH01021508;AY029191;AY358329;BC022059;BC063114;BP292032;CD110559;CH471089;NG_023430;NM_001193335;NM_017680 AAH22059;AAH63114;AAK31800;AAK35161;AAQ88695;BAA90967;BAB55060;BAG65309;EAW62822;EAW62823;NP_001180264;NP_060150;Q9BXN1 Hs.435655 1670882;1723923;1752083;1849331;2109071;2140046;2180310;2187282 ASPN_9828;D9S2071;D9S2074;RH119473;RH36006;SHGC-106025;SHGC-35056;STS-H75800 FLJ20129;OS3;PLAP-1;PLAP1;SLRR1C OTTHUMP00000021657;OTTHUMP00000021658;PLAP-1;asporin;asporin proteoglycan;periodontal ligament associated protein 1;periodontal ligament-associated protein 1;small leucine-rich protein 1C APPROVED protein-coding ENSG00000106819 14872 16288 603932;607850;608135 REVIEWED 1601744 ASPHD2 aspartate beta-hydroxylase domain containing 2 22 22 22 q12.1 10629181 10644874 + 25155302 25169571 + 26825280 26840978 + 6480464 15489334;15461802;14702039;12477932;10591208;20379614 57168 Q6ICH7 ABBA01055200;AK097157;AK315112;AL161993;AMYH01012684;BC036753;CH471095;CR456391;NM_020437;Z99714 AAH36753;BAG37570;BAG53427;CAB82325;CAG30277;CAI17879;CAK54397;CAK54696;EAW59715;EAW59716;NP_065170;Q6ICH7 Hs.567547 2148372 A007D44 FLJ39838 OTTHUMP00000198651;aspartate beta-hydroxylase domain-containing protein 2 protein-coding ENSG00000128203 30437 14255 VALIDATED 1350105 ASS1P1 argininosuccinate synthetase 1 pseudogene 1 6 6 6 p22.3 26250525 26252101 - 25131455 25132691 - 25023237 25024819 - 6321498;6093508;1440058 442167 ABBA01066541;AL160400;AMYH01016157;K01845;NG_001077 ASSP1 APPROVED pseudo 759 INFERRED 1345984 ASS1P11 argininosuccinate synthetase 1 pseudogene 11 7 7 7 p15.3 21245089 21246644 - 21226306 21227572 - 21259597 21261152 - 6093508;456;23251661 340274 AACC02000007;ABBA01056681;AC078791;AMYH01017105;CH236948;NG_008639 ASSP11 APPROVED pseudo 761 INFERRED 1348690 ASS1P10 argininosuccinate synthetase 1 pseudogene 10 5 5 5 q32 140689275 140690849 + 144588397 144590141 + 144608274 144609848 + 6093508;2435915 455 ABBA01026349;AC132803;AMYH01015678;NG_003021 ASSP10 APPROVED pseudo 760 INFERRED 1604987 ASPRV1 aspartic peptidase, retroviral-like 1 2 2 2 p13.3 70038387 70040559 - 70040730 70042901 - 70187221 70189397 - 6480464 22318384;21145461;16098038;16565508;15815621;15489334;14702039;12477932;21542132;21800051;23251661 151516 Q53RT3 ABBA01075517;AC079811;AK055994;AK057813;AMYH01010423;BC031997;BC094000;BC094002;CH471053;CS057934;NM_152792 AAH31997;AAH94000;AAH94002;AAY24017;BAB71067;BAB71587;CAI77615;EAW99836;NP_690005;Q53RT3 Hs.516253 1691036;5493315 RH99200;UniSTS:485684 MUNO;SASP;SASPase;Taps OTTHUMP00000205193;TPA-inducible aspartic proteinase-like protein;retroviral-like aspartic protease 1;skin aspartic protease;skin-specific retroviral-like aspartic protease protein-coding ENSG00000244617 26321 08683 611765 VALIDATED 1353562 ASS1P13 argininosuccinate synthetase 1 pseudogene 13 11 11 11 q22.3 104212835 104214390 + 106552222 106553681 + 107046938 107048493 + 6093508 341230 ABBA01039887;AMYH01004012;AP003057;NG_011669 ASSP13 APPROVED pseudo 763 INFERRED 1344256 ASS1P12 argininosuccinate synthetase 1 pseudogene 12 9 9 9 p21.1 32877206 32878772 + 32935894 32937320 + 32945892 32947458 + 6093508 392302 ABBA01065075;AL353717;AMYH01019321;NG_005207 ASSP12 APPROVED pseudo 762 INFERRED 1351034 ASS1P14 argininosuccinate synthetase 1 pseudogene 14 12 12 12 p11.21 12959053 12960616 + 33029940 33031370 + 33138672 33140235 + 6093508;6321498 459 ABBA01031698;AC087311;AMYH01004376;NG_001078 ASSP14 APPROVED pseudo 764 INFERRED 1354180 ASS1P2 argininosuccinate synthetase 1 pseudogene 2 2 2 2 p22.1 38878378 38879919 - 38890871 38892570 - 39037357 39038898 - 9847074;6093508 447 ABBA01075019;AC018693;AC092833;AMYH01010269;NG_000845 ASSP2 APPROVED pseudo 765 INFERRED 1345150 ASS1P4 argininosuccinate synthetase 1 pseudogene 4 X X X p22.33 7566322 7567886 + 3295023 3296742 + 3285086 3286650 + 6321498;6093508 449 ABBA01038685;AC004616;AMYH01022018;K01847;K01848;K01849;NG_000846 ASSP4 APPROVED pseudo 767 INFERRED 1349533 ASS1P6 argininosuccinate synthetase 1 pseudogene 6 Y Y Y q11.21 1014910 1016498 - 12552914 12554642 - 14042991 14044579 - 12815422;9847074;6093508;2822495 451 ABBA01065714;AC012502;NG_000848 ASSP6 APPROVED pseudo 769 INFERRED 1346261 ASS1P5 argininosuccinate synthetase 1 pseudogene 5 X X X q23 115334171 115335721 + 114805299 114806996 + 114899109 114900659 + 6093508 450 ABBA01053713;AC005000;AMYH01022855;NG_000847 ASSP5 APPROVED pseudo 768 INFERRED 1353180 ASS1P3 argininosuccinate synthetase 1 pseudogene 3 9 9 9 q21.2 51370364 51371943 + 79982999 79984248 + 80793078 80794657 + 6321498;6093508 158452 ABBA01033943;AL353705;AMYH01021434;K01846;NG_012998 ASSP3 APPROVED pseudo 766 INFERRED 1343525 ASRGL1 asparaginase like 1 11 11 11 q12.3 59434150 59490290 + 61861350 61917463 + 62104774 62160887 + 6480464 19414332;17213182;16344560;15342556;14702039;12477932;11984834;8125298;18029348;19839645;21900206;21139048;22891768;23144326 80150 B4DLU4;E9PJK6;Q7L266 ABBA01003222;AF411076;AK090908;AK091894;AK225802;AK297158;AK309845;AK313069;AMYH01003687;AMYH01003688;AP003064;AP003306;BC006267;BC021295;BC064963;BC093070;BP308677;CH471076;DA159051;DT220454;NM_001083926;NM_025080 AAH06267;AAH21295;AAH64963;AAH93070;AAM28434;ACE86596;ACE87277;BAG35897;BAG52245;BAG52437;BAG59656;EAW74012;EAW74013;EAW74014;EAW74015;EAW74016;EAW74017;NP_001077395;NP_079356;Q7L266 Hs.535326 2173765 STS-T23913 ALP;ALP1;CRASH;FLJ22316 L-asparaginase;L-asparagine amidohydrolase;OTTHUMP00000236068;OTTHUMP00000236070;asparaginase-like 1 protein;asparaginase-like protein 1;beta-aspartyl-peptidase;isoaspartyl dipeptidase;isoaspartyl peptidase/L-asparaginase protein-coding ENSG00000162174 16448 07006 609212 VALIDATED 1316111 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 1 1 q31 195319997 195382287 - 197053257 197115824 - 1599300;1580863;6480464;7240710 16141009 19054571;19028728;18728014;18676753;18636190;18541031;18452193;18331833;18204051;17849285;17604569;17566767;17534152;17251122;17220170;17090670;17081983;16687438;16565220;16151010;16123590;15972725;15489334;15355437;15045028;14704186;14702039;14574646;12571366;12477932;12355089;11283617;11078481;21145461;19808985;19332161;19353628;19770472;20080800;20508983;20308539;21044324;20694558;21633703;22990118;23000965;20360068;21297427;21923303;21987572;21139048;21693764;21890473;21906983;21963094;20301772;23381943;22529908;22505724 259266 B3KWI2;Q5VYL4;Q8N4D1 ABBA01027596;AF509326;AK001379;AK001380;AK001411;AK095892;AK125107;AK226178;AL353809;AL627208;AMYH01001618;AY099890;AY099891;AY099892;AY099893;AY101201;AY367065;AY971955;AY971956;AY971957;BC015396;BC034607;BC040439;BF970006;BX648804;CH471067;NG_015867;NM_001206846;NM_018136 AAH15396;AAH34607;AAM44119;AAM44120;AAM44121;AAM44122;AAM48745;AAN40011;AAR12641;AAY46813;AAY46814;AAY46815;BAA91676;BAG50897;BAG54144;EAW91270;EAW91271;EAW91272;EAW91273;EAW91274;NP_001193775;NP_060606;Q8IZT6 Hs.121028 ASP;Calmbp1;DKFZp686N06184;FLJ10517;FLJ10549;FLJ43117;MCPH5 OTTHUMP00000034411;OTTHUMP00000034412;abnormal spindle-like microcephaly-associated protein;asp (abnormal spindle)-like, microcephaly associated (drosophila) APPROVED protein-coding ENSG00000066279 19048 08384 605481;608716 REVIEWED 1345680 ASS1P8 argininosuccinate synthetase 1 pseudogene 8 4 4 4 q31.22 146767823 146768717 - 149666762 149667837 - 149447412 149448306 - 9847074;6093508;2435915 453 ABBA01070065;AC093881;AMYH01014608;NG_003009 ASSP8 APPROVED pseudo 771 INFERRED 1602905 ASS1P7 argininosuccinate synthetase 1 pseudogene 7 3 3 3 q26.32 175419547 175421112 - 178497644 178500808 - 177014711 177016276 - 6321498;6093508 339845 ABBA01058579;AC117465;AMYH01013675;NG_001079 ASSP7 APPROVED pseudo 770 INFERRED 1348330 ASS1P9 argininosuccinate synthetase 1 pseudogene 9 5 5 5 q11.2 50108512 50110080 + 53190578 53192319 + 53154894 53156462 + 6093508;2435915;454 454 ABBA01015723;AC025175;AMYH01015086;NG_003022 1694706 G43543 ASSP9 APPROVED pseudo 772 INFERRED 1344232 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] 17 17 17 q25.3 76539749 76571790 + 77528715 77568571 + 79935426 79975282 + 6480464;7240710 18775313;18176180;17081983;15489334;14702039;14562105;12477932;11438465;11358836;11244503;10506710;20416077;21279521;22863883;21832049;16196087;22207755;19953087;21139048;21835426;21900206;21906983;21963094;22379092;22337587;22350894;23349634;23383273 79058 C9JAL9;J3KRF7;J3KRG1;J3KRY8;J3QL04;J3QR12;J3QR50;J3QRW3;Q9BZE9 ABBA01019659;ABBA01019660;AC137723;AC145207;AF324219;AK057403;AK057851;AK090682;AK126967;AK127159;AK127311;AK226086;AK290624;AMYH01008726;BC006152;BC018722;CH471099;NG_030375;NM_001251888;NM_024083;NR_045351 AAH06152;AAH18722;AAK08959;ABM83448;ABM86660;BAB71472;BAB71595;BAF83313;EAW89731;NP_001238817;NP_076988;Q9BZE9 Hs.298351 1678351;2153545 D17S704;RH79793 ASPCR1;ASPL;ASPS;FLJ45380;RCC17;TUG;UBXD9;UBXN9 UBX domain protein 9;UBX domain-containing protein 9;alveolar soft part sarcoma chromosomal region candidate gene 1 protein;alveolar soft part sarcoma locus;renal cell carcinoma gene on chromosome 17;renal cell carcinoma, papillary, 17;renal papillary cell carcinoma protein 17;tether containing UBX domain for GLUT4 APPROVED protein-coding ENSG00000169696 13825 06947 606236;606243 REVIEWED 1349169 ASTL astacin-like metallo-endopeptidase (M12 family) 2 2 2 q11.1 91230396 91244982 - 96153316 96167902 - 96789589 96804175 - 1580863;6480464 15087446;12477932;19913121;20628086;22318606 431705 Q3B826;Q6HA08 ABBA01036596;AC012307;AJ537600;AMYH01010721;BC107126;BC107127;CH471207;NM_001002036 AAI07127;AAI07128;CAD61265;EAW71389;NP_001002036;Q6HA08 Hs.447993 MGC129843 OTTHUMP00000207420;astacin-like metalloendopeptidase;oocyte astacin;ovastacin protein-coding ENSG00000188886 31704 16396 608860 VALIDATED 736136 ASS1 argininosuccinate synthase 1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012] 9 9 q34.1 132309915 132366482 + 133320094 133376661 + 1599301;1599263;1599267;1599305;1599310;1599265;1300048;2300098;4140479;4110824;70249;4140452;631755;4139898;4140449;4142785;6480464;6907045;7240710 7557970;17198704;10353334;15698416;11384198;10652239;4062872;12359751;20567615;11779202;19914391;12470967;11556547;20544730;20805789 1312326;12620389;2358466;6194510;19533750;19358837;19006241;19000307;18840401;18263583;17354225;17096330;16703398;16380201;16189514;16169070;16124451;15489334;15192091;14702039;14570901;12815590;12477932;11941481;11708871;11606680;11464474;9150948;8895530;8792870;7977368;6321498;6095035;3513483;3027451;2788888;1943692;1372742;891260;852520;19409979;19934275;20159990;19913121;20628086;20739017;20301631;21106532;23099195;21832049;22863883;22939629;17314511;23022198;21963094;21988832;20706999;18781797;20360068;21481813;21987572;21139048;21906983;22430140;21044950;19471022;23339388 445 P00966;Q5T6L4;Q5T6L5;Q5T6L6;Q5T6L7 ABBA01012048;AF363662;AK027126;AK293114;AK304625;AK315093;AL354898;AMYH01021769;AW672752;AY034076;BC009243;BC013224;BC021676;BE207182;BE794559;BF305325;BI603075;BX403885;CH471090;DB496935;L00081;L00084;M34903;NG_011542;NM_000050;NM_054012;X01630;Z36810 AAA51782;AAA51783;AAH09243;AAH21676;AAK67487;AAM60751;ACE86914;ACE87601;BAF85803;BAG37558;BAG65407;CAA25771;EAW87932;EAW87933;EAW87934;EAW87935;EAW87936;NP_000041;NP_446464;P00966 Hs.160786 1342290;1672046;1694706;1745645;1759747;1783216;2107863;2148869;2160520;5014493;5124104 ASS_8219;D12S1933;D9S1861;D9S1956;D9S2057;G43543;GDB:629967;L00083;RH91535;SHGC-151267;SHGC-152551 ASS;CTLN1 OTTHUMP00000022362;OTTHUMP00000022363;OTTHUMP00000022364;argininosuccinate synthase;argininosuccinate synthetase 1;arginosuccinate synthetase;citrulline--aspartate ligase;citrulline-aspartate ligase APPROVED protein-coding ENSG00000130707 758 04590 215700;603470 REVIEWED 1602904 ASTN1 astrotactin 1 Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009] 1 1 1 q25.2 149940230 150244095 - 175096826 175400647 - 176830203 177134024 - 6480464 19086053;18519826;18384059;16710414;16344560;12477932;9179496;9070947;8889548;3276720;20379614;21139048;22488871 460 B1AJS1;O14525;Q96BL7 AB006627;ABBA01027857;ABBA01027858;ABBA01027859;ABBA01027860;AK295126;AK307820;AK309094;AL021398;AL022145;AL031290;AL136983;AMYH01001519;AU132309;BC015438;BC032870;BC049377;BC064147;BC142697;BC146795;BM722747;BU620695;CH471067;NM_004319;NM_207108 AAH15438;AAI42698;AAI46796;BAA22958;BAG58151;EAW91005;EAW91006;EAW91007;EAW91008;NP_004310;NP_996991;O14525 Hs.495897 1656974;1659075;1668628;1692928;1692968;1704018;1705052;1710542;1714623;1715603;1723679;1725329;1735960;1756455;1771727;1850427;2109073;2115557;2143783;2163786;2163788;2184850;2187129 A001Y13;AL009305;AL034178;AL034201;ASTN_4385;D1S1946E;D1S3037;G16290;G19776;RH118982;RH119977;RH120945;RH123083;RH35833;RH64619;SHGC-143461;SHGC-30553;SHGC-32996;SHGC-75943;SHGC-75953;SHGC-77798;SHGC-78044;SHGC-86317 ASTN;KIAA1747 OTTHUMP00000032985;OTTHUMP00000032986;OTTHUMP00000032987;OTTHUMP00000032988;astrotactin-1 APPROVED protein-coding ENSG00000152092 773 09019 600904 VALIDATED 1314130 ASTN2 astrotactin 2 This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010] 9 9 9 q33.1 89835176 90825037 - 118227328 119217138 - 119187504 120177317 - 6480464 22683712;9734811;19086053;18940311;14702039;12477932;16344560;18839057;19910543;20195266;20379614;20889312;22658931;22504421;22566634;23251661;23284291 23245 B3KN99;B7ZKP4;B7ZKP5;H0Y3A8;H7C3I6;Q5VZX6 AB014534;ABBA01016275;ABBA01016276;ABBA01016277;ABBA01016278;ABBA01042640;ABBA01042641;ABBA01042642;ABBA01042643;ABBA01042644;ABBA01042645;ABBA01042646;AF116574;AI341147;AK024064;AK127350;AK315025;AL133282;AL133284;AL137024;AL157829;AL354981;AL355608;AL358792;AL392085;AL669963;AMYH01021678;AMYH01021679;AMYH01021680;AMYH01021681;BC010680;BC018759;BC029272;BC093835;BC101667;BC143289;BC143292;BC143293;BC146756;BM552790;BX648673;BX649176;CH471090;DA015423;NG_021409;NM_001184734;NM_001184735;NM_014010;NM_198186;NM_198187;NM_198188 AAF14357;AAH18759;AAH29272;AAH93835;AAI01668;AAI43290;AAI43293;AAI43294;AAI46757;BAA31609;BAG37513;BAG51261;BAG54491;EAW87444;NP_001171663;NP_001171664;NP_054729;NP_937829;NP_937830;NP_937831;O75129 Hs.601562 1335416;1337449;1339025;1650037;1657378;1670082;1671468;1696226;1717321;1724919;1724967;1727687;1749465;1749647;1750135;1756609;1759517;1761217;1763457;1763761;1773310;1777948;1787156;1787196;1848255;1850297;1851201;1851258;1951428;2108595;2110267;2111057;2132993;2150532;5014051;5015661;5019571;5037552;5118686;5125522;7190777;7190781 ASTN2_9326;AU047468;D11S3553;D3S3184;D8S2278;D8S2279;D9S1078;D9S154;D9S1802;D9S2151;D9S219E;D9S754;G10349;G19227;G31091;G63257;REN46569;RH118771;RH119226;RH122151;RH18010;RH18537;SHGC-111190;SHGC-111330;SHGC-112252;SHGC-13641;SHGC-14316;SHGC-143647;SHGC-145228;SHGC-147166;SHGC-147438;SHGC-150831;SHGC-156050;SHGC-31358;SHGC-35384;SHGC-83580;SHGC-86299;SHGC-8898;TRIM32_8005;WI-14828 KIAA0634;bA67K19.1 OTTHUMP00000022742;OTTHUMP00000022743;OTTHUMP00000022745;OTTHUMP00000162109;OTTHUMP00000162110;astrotactin-2;bA264C15.1 APPROVED protein-coding ENSG00000148219 17021 12498 612856 REVIEWED 1606299 ASTE1 asteroid homolog 1 (Drosophila) 3 3 3 q22.1 129157968 129170892 - 132215411 132228336 - 130732721 130745646 - 6480464 14702039;12477932;19503063 28990 B4DFL9;D6R9W5;D6RG30;D6RGH3;D6RJF1;H0Y982;Q2TB18 ABBA01059198;AC055733;AF113539;AK027258;AK027806;AK294156;AK301388;AMYH01013493;BC030274;BC069265;BC103709;BC110616;CH471052;NM_014065 AAF14876;AAH30274;AAI03710;AAI10617;BAB55383;BAG57480;BAG62927;EAW79214;EAW79215;EAW79216;NP_054784;Q2TB18 Hs.100878 2106501;2136188;2156750 HT001__6609;RH11935;RH78727 HT001;MGC129980 OTTHUMP00000216083;OTTHUMP00000216085;protein asteroid homolog 1 protein-coding ENSG00000034533 25021 11038 VALIDATED 1344717 ASXL3 additional sex combs like 3 (Drosophila) 18 18 18 q11 27966488 28135348 + 29412539 29581397 + 31158541 31327399 + 6480464 16412590;16344560;15138607;14702039;11214970;10737800;20379614 80816 K7EIX5;K7EJ76;K7EKI3;K7ELD7;K7ELG8;K7ELW2;K7EQ33;K7EQY1;K7ERH8;Q9C0F0 AA447511;AB051500;ABBA01022465;ABBA01022466;ABBA01022467;AC010798;AC023192;AC090989;AK056450;AK091683;AK131454;AL133050;AMYH01008933;BE145544;DB061724;NM_030632 BAB21804;BAB71186;BAD18599;CAB61377;NP_085135;Q9C0F0 Hs.464876 1342303;1723509;2117570;7187383 D18S456;D18S830;RH118571 KIAA1713 additional sex combs-like protein 3;putative Polycomb group protein ASXL3 protein-coding 29357 615115 PROVISIONAL 1342865 ASUN asunder spermatogenesis regulator 12 12 12 p11.23 32204262 32237410 - 26949379 26982521 - 27058112 27091254 - 6480464 17081983;16344560;16189514;15489334;14702039;12601173;12477932;12414650;8889548;8125298;15737938;22863883;22939629;20133760;19357193;21907836;21139048;21693764;21890473;20195357;21963094;23097494 55726 B4DNK1;F5H457;F5H5W1;F8VRX9;H0YH12;H0YI01;H0YIA9;Q9NVM9 ABBA01068042;AC024093;AF274950;AK001222;AK001492;AK001499;AK225336;AK297948;AL137401;AMYH01004350;AY211927;BC003081;BC008368;BM684866;CH471094;DB239903;NM_018164 AAH03081;AAH08368;AAK07527;AAO65180;BAA91565;BAA91721;BAA91725;BAG60263;CAB70726;EAW96538;EAW96539;NP_060634;Q9NVM9 Hs.505077 1659784;1720043;1720065;1725991;1726689 G62316;G62581;RH123773;RH123818;RH15768 C12orf11;FLJ10630;FLJ10637;GCT1;Mat89Bb;NET48;SPATA30 OTTHUMP00000240384;asunder, spermatogenesis regulator homolog (Drosphila);cell cycle regulator Mat89Bb homolog;germ cell tumor 1;protein asunder homolog;sarcoma antigen NY-SAR-95;spermatogenesis associated 30 APPROVED protein-coding ENSG00000064102 20174 07689 615079 VALIDATED 1312315 ASXL2 additional sex combs like 2 (Drosophila) ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009] 2 2 2 p24.1 25802588 25941650 - 25815757 25954816 - 25962253 26101312 - 6480464 17353931;17672918;14702039;12888926;12477932;11214970;15231748;19615732;19815555;21047783;21832049;20360068;20805357;21906983;22505724 55252 E7EWD6;Q76L83 AB051472;AB084279;ABBA01045153;ABBA01045154;ABBA01045155;ABBA01045156;ABBA01045157;ABBA01045158;ABBA01045159;ABBA01045160;AC010150;AC064847;AK000649;AK001760;AMYH01010184;BC042999;BX647527;BX648218;CH471053;CR933613;NM_018263 AAH42999;AAY14841;ADZ15626;BAA91889;BAB21776;BAD00086;CAI45930;EAX00716;EAX00717;NP_060733;Q76L83 Hs.119815 1683178;1724783;1728547;1739569;1771038;2129372;2174316;2183628;2189539;2219014;5017607 A004H29;ASXL2_4387;D22S1565;D2S2091;G63712;PTGES3;RH122598;RH17952;RH92772;SGC33449;UniSTS:234880 ASXH2;DKFZp686C1968;FLJ10898;KIAA1685 OTTHUMP00000201375;additional sex combs-like protein 2;polycomb group protein ASXH2;putative Polycomb group protein ASXL2 APPROVED protein-coding ENSG00000143970 23805 10676 612991 VALIDATED 1318420 ATAD1 ATPase family, AAA domain containing 1 10 10 10 q23.31 83259379 83324398 - 89502855 89567897 - 89512875 89577917 - 737633;1580863;6480464 12477932 17203973;16303743;15489334;15164054;14702039;16385451;19615732;20379614;20877624;19322201;21139048;21890473;21906983 84896 B4E2J1;Q8NBU5 ABBA01021961;ABBA01021962;AC022016;AF361493;AK027506;AK075223;AK304297;AL133327;AL834370;AMYH01002932;BC010868;BC063530;BC073998;CH471066;CQ783876;HH961762;NM_032810 AAH10868;AAH63530;AAH73998;AAL57218;BAB55161;BAC11482;BAG65153;CAD39033;CAF86903;CBX51354;EAW50177;EAW50178;EAW50179;EAW50180;NP_116199;Q8NBU5 Hs.435948 1659731;1717089;2128874;2140191;2181051;2217040 A008T45;ATAD1_3693;G24570;RH121462;SHGC-36683;STS-W32476 AFDC1;FLJ14600;FNP001;THORASE ATPase family AAA domain-containing protein 1;OTTHUMP00000020030;OTTHUMP00000020031 protein-coding ENSG00000138138 25903 12499 614452 PROVISIONAL 1344611 ASXL1 additional sex combs like 1 (Drosophila) This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 20 20 q11 30409814 30490783 + 30946147 31027122 + 1580863;6480464;7240710 20410925;18239623;22058207;17474147;18624398;19609284;19388938;15489334;14702039;12657473;12477932;12168954;11780052;10231032;9477319;1349871;20678218;20596031;20408841;16606617;18506748;18957548;19586940;19615732;19865112;19880879;20182461;20334914;8889548;20693432;19815555;20880116;22915647;18258596;21307773;22905207;21832049;21346257;21455215;21706002;22271902;21576631;19377461;21988832;23000965;20805357;21923651;21987572;21904853;21139048;21890473;21906983;21963094;22031865;20360068;20436459;21712540;22542624;21642991;22419483;22436456;22535592;23294243;22897849;23365461;22929312;23009937;23018865;22505724;22489043;23099237 171023 A6NIZ6;G3V3V0;H0YJC9;Q498B9;Q5JWS8;Q6P1M8;Q9Y2I4 AB023195;AB084280;ABBA01019268;ABBA01019269;ABBA01019270;ABBA01019271;ABBA01019272;ABBA01019273;ABBA01019274;ABBA01019275;ABBA01019276;ABBA01019277;AJ438952;AK025756;AK122923;AL034550;AL117518;AL117647;AL121583;AMYH01011840;AMYH01011841;AMYH01011842;BC033284;BC064984;BC100280;BC137278;BC137280;BQ064719;BU686340;BX109122;CH471077;CR977683;NG_027868;NM_001164603;NM_015338 AAH33284;AAH64984;AAI00281;AAI37279;AAI37281;BAA76822;BAD00087;BAG53800;CAB55975;CAB56029;CAD27708;EAW76377;EAW76378;EAW76379;EAW76380;NP_001158075;NP_056153;Q8IXJ9 Hs.374043 1338523;1669210;1669523;1676660;1770049;1849384;2115904;2138730;2152509;2219012 A004G33;ASXL1_4386;D20S1023;D20S200;RH12044;RH64149;RH66092;RH92532;SHGC-37583;Z94311 BOPS;KIAA0978;MDS;MGC117280;MGC71111 OTTHUMP00000030592;OTTHUMP00000030593;OTTHUMP00000245206;additional sex combs-like protein 1;polycomb group protein ASXL1;putative Polycomb group protein ASXL1 APPROVED protein-coding ENSG00000171456 18318 16516 605039;612990;614286 REVIEWED 1312522 ATAD2 ATPase family, AAA domain containing 2 A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008] 8 8 8 q24.13 120520748 120596364 - 124401922 124477868 - 124332090 124408705 - 737633;6480464 12477932 19318566;17998543;17081983;15489334;15342556;15334068;15302935;14702039;16712791;18029348;20855524;19843847;20864510;22771493;20374707;23000965;22914773;22178446;19471022;21139048;21693764;21890473;21906983;22586326;21252943 29028 E5RHW7;E5RIP2;Q6PL18 ABBA01037873;ABBA01037874;AC021305;AF118088;AK097133;AL833653;AMYH01019004;AY598335;BC007123;BC010686;BC019909;BC112942;BC113656;BC143716;BP314109;CA441499;CB159561;CH471060;CR749832;NM_014109 AAF22032;AAH10686;AAH19909;AAI13657;AAT06746;ADZ15725;BAC04959;CAH18688;CAH56229;EAW92033;EAW92034;EAW92035;EAW92036;NP_054828;Q6PL18 Hs.370834 1650610;1676156;1676258;1740137;2148695;2170362 D8S1689;RH66014;RH77936;RH80934;RH80997;WI-20906 ANCCA;DKFZp667N1320;MGC131938;MGC142216;MGC29843;MGC5254;PRO2000 AAA nuclear coregulator cancer-associated protein;ATPase family AAA domain-containing protein 2;OTTHUMP00000228392;OTTHUMP00000228393 APPROVED protein-coding ENSG00000156802 30123 10678 611941 REVIEWED 1604011 ATAD2B ATPase family, AAA domain containing 2B The protein encoded by this gene belongs to the AAA ATPase family, CDC48 subfamily. This subfamily members in eukaryotes are involved in the budding and transfer of membrane from the transitional endoplasmic reticulum to the Golgi apparatus. The exact function of this protein is not known. [provided by RefSeq, May 2011] 2 2 2 p24.1-p23.3 23812998 23990337 - 23825038 24003438 - 23971534 24149936 - 6480464 14702039;12477932;10574462;9110174;8619474;8889548;21158754;22586326;23251661;23000965 54454 C9J1G9;C9JG15;H7BYF1;H7C475;Q9ULI0 AA767863;AB033066;ABBA01045093;ABBA01045094;ABBA01045095;ABBA01045096;AC009242;AC066692;AC079924;AF038204;AK094821;AK125718;AK131301;AMYH01010163;AMYH01010164;BC037408;BC071781;BC171846;BM974506;NG_029017;NM_001242338;NM_017552 AAH37408;BAA86554;BAC04429;BAD18469;BAG54237;NP_001229267;NP_060022;Q9ULI0 Hs.467862 1650303;1669806;1755215;1788620;5123951 RH126627;RH16288;SHGC-142120;SHGC-34850;WI-14281 KIAA1240;MGC88424 ATPase family AAA domain-containing protein 2B;OTTHUMP00000200738 APPROVED protein-coding ENSG00000119778 29230 615347 REVIEWED 1348719 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 7 7 7 q31.2 111811458 111875763 - 116790512 116854779 - 117003276 117067577 - 632725;1580863;6480464 12040005 15489334;15364959;14702039;12690205;12477932;11279520;21378990;21880841 136991 C9JP59;F8WDQ2;Q8WWH4 AACC02000001;ABBA01057800;AC002465;AF461259;AK093445;AMYH01017886;BC028695;BC034963;BC068488;BC098399;BC126186;BC126188;BC144207;BC144212;CH236947;CH471070;DB457846;HC006784;HC044669;NM_130768;NR_023315 AAH34963;AAI26187;AAI26189;AAI44213;AAL68815;ADR83190;BAC04167;CBH19198;CBH30664;EAL24354;EAW83526;EAW83527;EAW83528;NP_570124;Q8WWH4 Hs.352412 1337222;1340999;1719979;1799392;1805992;1806574;1806794;1807200;1807806;1808308;1809820;1810178;1810668;1813154;1815604;1815606;1816444;1817366;1817456;1817904;1818352;1818480;1818562;1821118;1821120;1821310;1821630;1822434;1825030;1827378;1828216;1828590;1829114;1829430;1831074;1831672;1832750;1834252;1834388;1834606;1836324;1839242;1839244;1840772;1841134;1844206;1844432;1846222;1846306;1846464;1985340;1985342;1985344;1985346;1985348;1985350;1985352;1985354;1985356;1985358;1985360;1985362;1985364;1985366;1985368;1985370;1985372;1985374;1985376;1985378;1985380;1985382;1985384;1985386;1985388;1985390;1985392;1985394;1985396;1985398;1985400;1985402;1985404;1985406;1985408;1985410;1985412;1985414;1985416;1985418;1985420;1985422;1985424;1985426;1985428;1985430;1985432;1985434;1985436;1985438;1985440;1985442;1985444;1985446;1985448;1985450;1985452;1985454;1985456;1985458;1985460;1985462;1985464;1985466;1985468;1985470;1985472;1985474;1985476;1985478;1985480;1985482;1985484;1985486;1985488;1985490;1985492;1985494;1985496;1985498;1985500;1985502;1985504;1985506;1985508;1985510;1985512;1985514;1985516;1985518;1985520;1985522;1985524;1985526;1985528;1985530;1985532;1985534;1985536;1985538;1985540;1985542;1985544;1985546;1985548;1985550;1985552;1985554;1985556;1985558;1985560;1985562;1985564;1985566;1985568;1985570;1985572;1985574;1985576;1985578;1985580;1985582;1985584;1985586;1985588;1985590;1985592;1985594;1985596;1985598;1985600;1985602;1985604;1985606;1985608;1985610;1985612;1985614;1985616;1985618;1985620;1985622;1985624;1985626;1985628;1985630;1985632;1985634;1985636;1985638;1985640;1985642;1985644;1985646;1985648;1985650;1985652;1985654;1985656;1985658;1985660;1985662;1985664;1985666;1985668;1985670;1985672;1985674;1985676;1985678;1985680;1985682;1985684;1985686;1985688;1985690;1985692;1985694;1985696;1985698;1985700;1985702;1985704;1985706;1985708;1985710;1985712;1985714;1985716;1985718;1985720;1985722;1985724;1985726;1985728;1985730;1985732;1985734;1985736;1985738;1985740;1985742;1985744;1985746;1985748;1985750;1985752;1985754;1985756;1985758;1985760;1985762;1985764;1985766;1985768;1985770;1985772;1985774;1985776;1985778;1985780;1985782;1985784;1985786;1985788;1985790;1985792;1985794;1985796;1985798;1985800;1985802;1985804;1985806;1985808;1985810;1985812;1985814;1985816;1985818;2094438;2094440;2094442;2094444;2094446;2094448;2094450;2094452;2094454;2094456;2094458;2094460;2094462;2094464;2094466;2094468;2094470;2094472;2094474;2094476;2094478;2094480;2094482;2094484;2094486;2094488;2094490;2094492;2094494;2094496;2094498;2094500;2094502;2094504;2094506;2094508;2094510;2094512;2094514;2094516;2094518;2094520 D6S409;D7S633;ECD00547;ECD03949;ECD04244;ECD04359;ECD04566;ECD04878;ECD05135;ECD05902;ECD06081;ECD06328;ECD07596;ECD08839;ECD08840;ECD09264;ECD09733;ECD09778;ECD10006;ECD10233;ECD10301;ECD10343;ECD11636;ECD11637;ECD11735;ECD11901;ECD12305;ECD13614;ECD14804;ECD15233;ECD15422;ECD15684;ECD15846;ECD16673;ECD16973;ECD17516;ECD18274;ECD18342;ECD18451;ECD19324;ECD20801;ECD20802;ECD21577;ECD21761;ECD23316;ECD23430;ECD24331;ECD24373;ECD24452;REN63571;REN63572;REN63573;REN63574;REN63575;REN63576;REN63577;REN63578;REN63579;REN63580;REN63581;REN63582;REN63583;REN63584;REN63585;REN63586;REN63587;REN63588;REN63589;REN63590;REN63591;REN63592;REN63593;REN63594;REN63595;REN63596;REN63597;REN63598;REN63599;REN63600;REN63601;REN63602;REN63603;REN63604;REN63605;REN63606;REN63607;REN63608;REN63609;REN63610;REN63611;REN63612;REN63613;REN63614;REN63615;REN63616;REN63617;REN63618;REN63619;REN63620;REN63621;REN63622;REN63623;REN63624;REN63625;REN63626;REN63627;REN63628;REN63629;REN63630;REN63631;REN63632;REN63633;REN63634;REN63635;REN63636;REN63637;REN63638;REN63639;REN63640;REN63641;REN63642;REN63643;REN63644;REN63645;REN63646;REN63647;REN63648;REN63649;REN63650;REN63651;REN63652;REN63653;REN63654;REN63655;REN63656;REN63657;REN63658;REN63659;REN63660;REN63661;REN63662;REN63663;REN63664;REN63665;REN63666;REN63667;REN63668;REN63669;REN63670;REN63671;REN63672;REN63673;REN63674;REN63675;REN63676;REN63677;REN63678;REN63679;REN63680;REN63681;REN63682;REN63683;REN63684;REN63685;REN63686;REN63687;REN63688;REN63689;REN63690;REN63691;REN63692;REN63693;REN63694;REN63695;REN63696;REN63697;REN63698;REN63699;REN63700;REN63701;REN63702;REN63703;REN63704;REN63705;REN63706;REN63707;REN63708;REN63709;REN63710;REN63711;REN63712;REN63713;REN63714;REN63715;REN63716;REN63717;REN63718;REN63719;REN63720;REN63721;REN63722;REN63723;REN63724;REN63725;REN63726;REN63727;REN63728;REN63729;REN63730;REN63731;REN63732;REN63733;REN63734;REN63735;REN63736;REN63737;REN63738;REN63739;REN63740;REN63741;REN63742;REN63743;REN63744;REN63745;REN63746;REN63747;REN63748;REN63749;REN63750;REN63751;REN63752;REN63753;REN63754;REN63755;REN63756;REN63757;REN63758;REN63759;REN63760;REN63761;REN63762;REN63763;REN63764;REN63765;REN63766;REN63767;REN63768;REN63769;REN63770;REN63771;REN63772;REN63773;REN63774;REN63775;REN63776;REN63777;REN63778;REN63779;REN63780;REN63781;REN63782;REN63783;REN63784;REN63785;REN63786;REN63787;REN63788;REN63789;REN63790;REN63791;REN63792;REN63793;REN63794;REN63795;REN63796;REN63797;REN63798;REN63799;REN63800;REN63801;REN63802;REN63803;REN63804;REN63805;REN63806;REN63807;REN63808;REN63809;REN63810;RH123968;stSG598599;stSG598600;stSG598601;stSG598602;stSG598603;stSG598604;stSG598605;stSG598606;stSG598607;stSG598608;stSG598609;stSG598610;stSG598611;stSG598612;stSG598613;stSG598614;stSG598615;stSG598616;stSG598617;stSG598618;stSG598619;stSG598620;stSG598621;stSG598622;stSG598623;stSG598624;stSG598625;stSG598628;stSG598629;stSG598631;stSG598632;stSG598633;stSG598634;stSG598635;stSG598636;stSG598637;stSG598638;stSG598639;stSG598640;stSG598641;stSG598642;stSG598643 ALP1;ANKL1;C7orf7;CT1.19;GASZ;MGC26634;Orf3 4933400N19Rik;OTTHUMP00000069161;ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1;ankyrin-like 1;ankyrin-like protein 1;germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein protein-coding ENSG00000154438 1350 10677 605797 VALIDATED 1351713 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 7240710 7702088 465 780 1347003 ATAD3B ATPase family, AAA domain containing 3B ATAD3A (MIM 612316) and ATAD3B are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 1 p36.33 1147640 1172191 - 1397027 1421445 + 1407164 1431582 + 737633;6480464 12477932 18639545;17210950;16909202;16710414;15489334;14702039;10574462;17353931;21145461;17148452;19615732;20877624;19913121;19156129;19167051;20186120;20473970;19596686;20360068;21906983;22192748;18729074;19380743;22190034;22664726;22797925 83858 A6NFL3;Q5T9A4 AB033099;ABBA01016047;AF343078;AK024028;AK127857;AK290586;AL157945;AL645728;AL834179;AMYH01000134;AMYH01000135;AMYH01000136;BC002542;BC009938;BC018701;BQ954571;CH471183;NM_031921 AAH02542;AAH18701;AAK38647;BAA86587;BAB14787;BAF83275;CAD38876;EAW56192;EAW56193;EAW56194;NP_114127;Q5T9A4 Hs.729021 2107865;2112394;5015619;5020948;5037552;5109281 ATAD3B_8108;D11S3114;D1S1425;D1S3674;D8S2279;G35510 AAA-TOB3;KIAA1273;TOB3 AAA-ATPase TOB3;ATPase family AAA domain-containing protein 3B;OTTHUMP00000000600 APPROVED protein-coding ENSG00000160072 24007 10679 612317 PROVISIONAL 1314304 ATAD3A ATPase family, AAA domain containing 3A ATAD3A and ATAD3B (MIM 612317) are mitochondrial membrane proteins that contribute to the stabilization of large mitochondrial DNA (mtDNA)-protein complexes called nucleoids (He et al., 2007 [PubMed 17210950]).[supplied by OMIM, Sep 2008] 1 1 p36.33 1437418 1459927 + 1447523 1470067 + 737633;6480464 12477932 21584487;17353931;21145461;22542587;18639545;18063578;17210950;16710414;15489334;14702039;20332122;20349121;16344560;17148452;19041431;20154147;20351179;20877624;22318359;16055720;21182205;19156129;21743956;20360068;21987572;21139048;21890473;21906983;22192748;21907836;20473970;21628590;19531213;22586326;23182705;22190034;22664726 55210 H0Y2W2;Q5SV16;Q9NVI7 ABBA01016051;ABBA01016052;AK001571;AK025865;AK056099;AK091144;AK092833;AK310572;AL645728;AMYH01000136;AMYH01000137;AMYH01000138;AMYH01000139;AMYH01000140;BC007803;BC011814;BC014101;BC033109;BC063607;CH471183;DA206969;GU189416;NM_001170535;NM_001170536;NM_018188 AAH07803;AAH11814;AAH14101;AAH33109;AAH63607;ACZ80514;BAA91764;BAC03595;BAG51625;EAW56186;EAW56187;EAW56188;EAW56189;EAW56190;EAW56191;NP_001164006;NP_001164007;NP_060658;Q9NVI7 Hs.23413 2107865;2112394;2150645 ATAD3B_8108;D1S3674;SHGC-74117 FLJ10709;FLJ35514 ATPase family AAA domain-containing protein 3A;OTTHUMP00000000594;OTTHUMP00000000595;OTTHUMP00000000596 APPROVED protein-coding ENSG00000197785 25567 12500 612316 VALIDATED 1604719 ATAD3C ATPase family, AAA domain containing 3C 1 1 1 p36.33 1173817 1194284 - 1387910 1395401 + 1385069 1405538 + 14702039;12477932;22192748 219293 J3QSF3;Q5T2N8 ABBA01016045;ABBA01016046;ABBA01016047;AK074653;AK091918;AK094502;AL157945;AL391244;AMYH01000133;AMYH01000134;BC101211;BC101212;NM_001039211 AAI01212;AAI01213;BAC04369;NP_001034300;Q5T2N8 Hs.724767 5015861;5015881;5015961;5021872;5022651;7185938 D10S16;D11S2921;D15S1477;GDB:335751;sY3084 FLJ34599;FLJ37183 ATPase family AAA domain-containing protein 3C;ATPase family, AAA domain containing 3A;OTTHUMP00000000561 protein-coding ENSG00000215915 32151 13426 VALIDATED 3539572 ATF1P1 activating transcription factor 1 pseudogene 1 6 6 6 q16.1 94017738 94018529 - 93653706 93654903 - 93596985 93597776 - 100128159 ABBA01040577;AL356956;AMYH01016515;NG_016455 1786008 SHGC-154984 pseudo 37691 INFERRED 1347627 ATAT1 alpha tubulin acetyltransferase 1 6 6 6 p21.33 32192731 32212715 + 30702632 30722577 + 30594613 30614598 + 6480464 16344560;14702039;12477932;20829795;19851445;8125298;21832049;23071314;23071318 79969 Q86X42;Q8TAV6 AB075512;ABBA01038051;AK023220;AK225107;AK297661;AK298743;AL535697;AL662800;AL732442;AL833858;AL845353;AMYH01016205;BC006105;BC025755;BC047303;BX119957;BX418089;BX418559;BX442806;BX908728;CH471081;CR753328;CR759778;CX786272;DB090032;NM_001031722;NM_001254952;NM_024909 AAH06105;AAH25755;AAH47303;BAB14472;BAE45758;BAH12643;BAH12864;CAD38717;EAX03306;EAX03307;EAX03308;EAX03309;NP_001026892;NP_001241881;NP_079185;Q5SQI0 Hs.654798 1666547;1677824;1685379;1697858;1729179;1776546;1786124;2189615 C4_2_25;D6S1149E;RH102456;RH68972;RH8148;RH98618;SHGC-172547;UniSTS:146572 C6orf134;DKFZp547J097;FLJ13158;MEC17;Nbla00487;TAT OTTHUMP00000029316;OTTHUMP00000029318;OTTHUMP00000029319;OTTHUMP00000163694;OTTHUMP00000163695;OTTHUMP00000163696;acetyltransferase MEC-17;acetyltransferase mec-17 homolog;alpha-TAT;alpha-tubulin N-acetyltransferase;hypothetical protein LOC79969 APPROVED protein-coding ENSG00000137343 21186 12850 VALIDATED 1605345 ATAD5 ATPase family, AAA domain containing 5 17 17 17 q11.2 26081154 26143209 + 26183146 26246421 + 29159020 29222295 + 6480464 19291764;18391951;17632510;15983387;14702039;12477932;11468690;10843809;20546612;19755857;20379614;20147293;21640107;21896657;21901109;19471022;21555454;21693764;21906983;22318606;20881960;23277426 79915 Q96QE3 ABBA01014979;ABBA01014980;ABBA01014981;ABBA01014982;ABBA01014983;ABBA01014984;ABBA01014985;AC127024;AC130324;AJ314648;AK022797;AL832103;AMYH01008317;AMYH01008318;AY557611;BC015051;NM_024857 AAH15051;AAI48344;AAT52049;BAB14248;CAC44537;CAH10412;NP_079133;Q96QE3 Hs.528902 1753469;1768628;2155173 RH44898;SHGC-107412;SHGC-33441 C17orf41;ELG1;FLJ12735;FRAG1 ATPase family AAA domain-containing protein 5;OTTHUMP00000163682;chromosome fragility associated gene 1;chromosome fragility-associated gene 1 protein;enhanced level of genomic instability 1 homolog protein-coding ENSG00000176208 25752 07792 609534 PROVISIONAL 1353507 ATF4P1 activating transcription factor 4 pseudogene 1 X X q28 153968835 153970275 + 153850591 153852031 - 11709543;11410370;8088803 469 ABBA01029065;AC244107;AF277315;AMYH01023318;NG_001080;U03712 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 ATF4P;TAXREB67P;TXREBP activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene);uncharacterized protein LOC643894 pseudo 789 INFERRED 2291806 ATF4P2 activating transcription factor 4 pseudogene 2 X X X q28 153968835 153970275 + 153462002 153463637 + 153808909 153810349 + 11709543;11410370;8088803 340600 AC244090;AF277315;AMYH01023318;NG_002951 1813312;1827662;2102696;2102698;2102700;2102740;2102742 ECD07676;ECD14951;stSG604158;stSG604159;stSG604160;stSG604188;stSG604189 pseudo 34025 INFERRED 1352172 ATF4P3 activating transcription factor 4 pseudogene 3 17 17 17 q25.1 70815673 70817094 - 71733331 71734770 - 74221746 74223167 - 10610718 643159 ABBA01028754;AC015801;AMYH01008639;NG_009319 1776635 RH71390 ATF4C APPROVED pseudo 788 INFERRED 1344419 ATF4P4 activating transcription factor 4 pseudogene 4 11 11 11 q23.2 110813721 110815056 + 113165967 113167719 + 113660840 113662175 + 10610718 100127952 ABBA01039782;AMYH01004039;AP003170;NG_021835 ATF4B APPROVED pseudo 787 INFERRED 1319593 ATCAY ataxia, cerebellar, Cayman type This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3818196 3865544 + 3831639 3879080 + 3880618 3928080 + 1599351;1599348;5133436;6480464;7240710 17092653;14556008;16246457 16275660;19165527;16344560;15489334;14702039;12477932;11347906;8845847;19861499;17207965;16899818;21832049;23226316;21782286 85300 B4DS11;M0R197;M0R225;Q86WG3 AB058775;ABBA01002852;ABBA01002853;ABBA01002854;ABBA01002855;ABBA01002856;ABBA01002857;AC011488;AK027889;AK092309;AK125457;AK299522;AMYH01009319;AY220297;BC008736;BC014884;BC026217;BF516378;BX505461;CH471139;DA151785;DA778097;NG_012638;NM_033064 AAH26217;AAO63019;ADQ32311;BAB47501;BAC03859;BAG54199;BAG61473;EAW69280;NP_149053;Q86WG3 Hs.418055 5015861;5016478;5020946;5022383;5022450;5022578;5022651;5037552;5109281;7185938 D10S16;D10S275;D11S2921;D1S1423;D1S1425;D8S2279;ECD04345;GDB:434012;L17971 BNIP-H;CLAC;KIAA1872 BNIP-2-homolgy;BNIP-2-homology;Cayman ataxia;ataxia cayman type protein;caytaxin APPROVED protein-coding ENSG00000167654 779 10491 601238;608179 REVIEWED 1319626 ATE1 arginyltransferase 1 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q26.13 117234468 117419505 - 123492615 123677536 - 123502625 123687546 - 1580863;6480464 9858543;16943202;16002466;15489334;14702039;12477932;16385451;19615732;20379614;21263130;22863883;21139048;21906983 11101 B3KWA3;B4DK25;B4E107;F5GXE4;H0Y5C2;O95260;Q5SQQ1 ABBA01062855;ABBA01062856;ABBA01062857;ABBA01062858;ABBA01062859;ABBA01062860;ABBA01062861;ABBA01062862;AC025947;AF079098;AF079099;AK124669;AK292657;AK295642;AK296356;AK299101;AK303604;AK308926;AK313057;AL731542;AL731566;AMYH01003130;AMYH01003131;BC022026;CH471066;NM_001001976;NM_007041 AAD12366;AAD12367;AAH22026;ABM83018;ABM86211;BAF85346;BAG35887;BAG54065;BAG58513;BAG59037;BAG61160;BAG64619;EAW49334;EAW49335;EAW49336;NP_001001976;NP_008972;O95260 Hs.632080 1703194;1713247;1720927;1777679;2108703;2184536;2184538 ATE1_9219;G59293;RH120614;RH44797;SGC32262;SHGC-36497;STS-AA011535 MGC26724 OTTHUMP00000020637;OTTHUMP00000020638;R-transferase 1;arginine-tRNA--protein transferase 1;arginyl-tRNA--protein transferase 1;arginyl-tRNA-protein transferase APPROVED protein-coding ENSG00000107669 782 06979 607103 REVIEWED 732287 ATF2 activating transcription factor 2 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 2 2 q32 175647252 175741143 - 175936978 176032934 - 704409;1580863;6480464;5135029;6484113;6907045 11125071;21641970 10909971;2529117;8798441;9030721;10878576;19453261;19331149;19278424;19184334;19176525;19082758;18700251;18677098;18671972;18547788;18397884;18348191;18077426;17869487;17681939;17626013;17337306;17258390;17244683;17082618;17081983;17054722;16896160;16869889;16418168;16344560;16049073;15916964;15878807;15691875;15304344;15302935;14988408;14734562;14678960;14630918;12833146;12805554;12788955;16456540;12592382;12477932;12270648;12200150;12110590;11932306;11836564;11713276;11259586;11231009;10821277;10567391;10357819;10327051;10085140;9920921;9873047;9748258;9685505;9671405;9628874;9524124;9488727;9445037;9207191;9139739;9058782;8628277;8440710;7737130;7737129;7535770;2521922;2320002;1838349;1833307;1828107;1827203;1641004;602896;16179804;18307971;8027667;11279118;9405416;9207092;12244047;9786917;15692053;9155018;11566021;7769693;9235954;12663670;19913121;20628086;10393177;11302752;15105425;16511568;16533805;17254968;18029348;19135240;19487697;19712049;19822663;19923798;19944700;20116378;20379614;20507983;10066798;20051382;20211142;20619956;20581861;20675274;15276183;16303757;21098032;18396163;21203491;9659924;21384452;20498639;21278380;20398657;17296604;20213747;21832049;22685333;8654373;19861239;10207054;12958075;21858082;21565167;21890473;21990224;22304920;21444723;21901137;22275354;22351776;7774816;9110174;10708586;12804775;12874243;9162092;20068037;22843696;9399639 1386 A4D7V5;B3KY57;B8ZZU6;C9JCI8;E9PBF9;E9PEK8;F2Z2K2;F5H629;H7C2N6;Q3B7B7;Q96JT8 ABBA01062202;ABBA01062203;ABBA01062204;AC007435;AC074291;AC096649;AC131958;AF283776;AI200584;AK128731;AL050192;AMYH01011284;AMYH01011285;AMYH01011286;AY029364;BC026175;BC107698;BC130335;BC130337;BX648469;CH471058;DA995464;DQ003036;DQ003037;DQ003038;DQ003039;DQ003040;DQ003041;DQ003042;DQ003043;DQ003044;DQ003045;DQ003046;DQ003047;DQ003048;DQ003049;M31630;NM_001256090;NM_001256091;NM_001256092;NM_001256093;NM_001256094;NM_001880;NR_045768;NR_045769;NR_045770;NR_045771;NR_045772;NR_045773;NR_045774;X15875 AAA35951;AAH26175;AAI07699;AAI30336;AAI30338;AAK55760;AAX88876;AAY15004;AAY17202;AAY17203;AAY17204;AAY17205;AAY17206;AAY17207;AAY17208;AAY17209;AAY17210;AAY17211;AAY17212;AAY17213;AAY17214;AAY17215;ADR83024;BAG54719;CAA33886;EAX11109;EAX11110;EAX11111;EAX11112;EAX11113;NP_001243019;NP_001243020;NP_001243021;NP_001243022;NP_001243023;NP_001871;P15336 Hs.592510 1668093;1680090;1682489;2106955;2126323;2160189;5126545 ATF2_7769;RH80244;RH80902;SGC38090;SHGC-31988;SHGC-33561;WI-18856 CRE-BP1;CREB2;HB16;MGC111558;TREB7 CREB-2;OTTHUMP00000163262;OTTHUMP00000205344;OTTHUMP00000205345;OTTHUMP00000205347;OTTHUMP00000205348;OTTHUMP00000205350;OTTHUMP00000205352;OTTHUMP00000205353;OTTHUMP00000205354;activating transcription factor 2 splice variant ATF2-var2;cAMP response element-binding protein CRE-BP1;cAMP responsive element binding protein 2, formerly;cAMP-dependent transcription factor ATF-2;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-2;cyclic AMP-responsive element-binding protein 2;ratf2 APPROVED protein-coding ENSG00000115966 784 00443 123811 REVIEWED 1316513 ATF1 activating transcription factor 1 This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010] 12 12 q13 49444086 49501174 + 51157789 51214943 + 1580863;2316104;6480464 19924104 2196176;8401579;8798441;18950845;18794154;17565989;16716376;16344560;16327442;16227528;15884099;15489334;15041276;14767471;12805554;12760902;12748173;12734209;12631284;12527906;12477932;12444143;12391222;12195699;11992546;11909979;11877423;11018520;11014230;10945975;10585419;10567391;9824209;9685505;9671480;9016641;8889548;8663317;8621702;8570175;8384217;7730336;2516827;1655749;15806162;19561568;19950226;20453000;20413592;15276183;20536573;19714462;19913121;20628086;20945072;20972440;20398657;22939629;21484932;22505724;22631637;21890473;21963094;22052915;22510762;21658281 466 AAB25878;B4DRF9;F8VRN2;F8VS03;F8VYE5;F8VYN3;P18846 ABBA01031587;ABBA01031588;AC013244;AK299240;AK313406;AMYH01004458;BC029619;BG502726;BG545632;BG611151;BG611861;BI712653;BU682151;BX102171;CH471111;DA468394;NG_027673;NM_005171;X55544 AAB25878;AAH29619;ABZ91993;ABZ92155;BAG36201;BAG61271;CAA39150;EAW58151;NP_005162;P18846 Hs.648565 1698538;1768662;1848419;2138157;2218262;5093150 A009H30;ATF1_4332;G32549;RH102820;RH44890;RH71282 EWS-ATF1;FUS/ATF-1;TREB36 OTTHUMP00000241242;OTTHUMP00000241244;cAMP-dependent transcription factor ATF-1;cyclic AMP-dependent transcription factor ATF-1 APPROVED protein-coding ENSG00000123268 783 00440 123803 REVIEWED 735760 ATF3 activating transcription factor 3 This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011] 1 1 q32.3 210805320 210860740 + 212738676 212794119 + 1580863;2302137;6480464;5143919 16322555;18061509 22347845;17042743;20360311;21454613;22665497;21414204;18255255;7515060;18029348;19219066;19136462;19060337;18922905;18802113;18755691;18692824;18426833;18235102;18192274;18001166;17952119;17599613;17437852;17295236;17178897;17102133;17014422;16989641;16912181;16613840;16484797;16344560;16306208;16286461;16263788;16109718;16079301;15670751;15489334;15385533;15280448;14759258;14702039;14667575;12881527;12833146;12805554;12718878;12477932;12392999;12386811;12372430;12161427;12034827;11792711;11726207;11375399;8649793;8622660;8576171;8152431;7692236;2516827;11810028;19164757;1827203;16169070;15933712;21467165;20413626;20581861;16291753;19582787;20167600;20180416;20215396;20351107;20423458;20304822;20485437;20696134;21324310;22485215;14673171;20002170;20211142;20930144;19913121;20628086;22991139;21191795;21451046;21294679;21061913;21129190;22978410;23088992;23002211;21315420;21495874;21514952;21554132;21593605;21629765;21645504;21668942;21801305;21821004;21844328;21900211;20110283;21300803;21986529;20398657;19932681;19050264;22764884;22851689;22989952;19647793;20592017;21421043;22179317;21139048;21693764;21906983;22046379;21927023;22475484;22753726;22939624;23455924;2366175;22768301 467 P18847;Q5VTZ4 AB066566;AB078026;AB078027;AB078028;AB209032;ABBA01048167;ABBA01048168;AC092803;AI492228;AI949953;AK123699;AK125255;AK294296;AK312998;AL560585;AL590648;AL606913;AMYH01001707;AMYH01001708;AU135799;AY313926;AY313927;AY426987;BC006322;BI524020;BI819383;BT006996;CD638624;CD641946;CD742713;CH471100;CR450334;DA589280;DA691940;DB197400;L19871;NG_029871;NM_001030287;NM_001040619;NM_001206484;NM_001206486;NM_001206488;NM_001674;U37542 AAA20506;AAH06322;AAP35642;AAP93895;AAP93896;AAQ93358;ABM83649;ABM86898;BAB84092;BAC00495;BAC00496;BAC05510;BAD92269;BAG35834;BAG57579;CAG29330;EAW93383;EAW93384;EAW93385;EAW93386;EAW93387;EAW93388;NP_001025458;NP_001035709;NP_001193413;NP_001193415;NP_001193417;NP_001665;P18847 Hs.460 1341238;1674063;1676656;1791606;2126211;2129636;2145348;5023244 AL009578;D1S1667;D1S3565;PMC117192P1;RH17630;RH69028;SHGC-12563;SHGC-76330 FLJ41705 ATF3deltaZip2;ATF3deltaZip2c;ATF3deltaZip3;OTTHUMP00000034887;OTTHUMP00000034888;OTTHUMP00000034890;OTTHUMP00000038593;OTTHUMP00000038594;cAMP-dependent transcription factor ATF-3;cyclic AMP-dependent transcription factor ATF-3 APPROVED protein-coding ENSG00000162772 785 04395 603148 REVIEWED 733712 ATF4 activating transcription factor 4 This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011] 22 22 q13.1 38246515 38248637 + 39916569 39918691 + 1580863;734979;6480464;6907045 10096021 21966512;22435535;15461802;15385533;14747470;14695168;14630918;14561767;12860379;12812986;12805554;12743605;12477932;11274184;11087824;11025215;11018027;10591208;10419887;9488481;9295363;8939898;2516827;1847461;1827203;1534408;1371974;18276110;19164757;15475356;16169070;14623284;11960987;9190894;12689582;15788408;15314157;19453261;19417138;19251251;19193809;19114033;19073601;19017641;18940792;18697751;18635891;18451308;18408768;18195013;18189280;18171674;18163433;17996332;17938202;17822787;17707795;17684156;17369260;17347301;17346882;16687408;16682973;16219772;16189514;15677469;15489334;15775988;20936779;16343488;19061639;19509279;19855386;19946894;20022965;20185790;20473272;20551969;20592469;20514020;20724472;20732869;20211142;20564243;21044953;17042743;17726049;21087962;16751776;21832049;23153536;11238952;21203563;21244365;19922526;21706477;22915762;22955275;18255255;20398657;21113145;21683813;22082360;21801305;22017875;22050711;22485215;19447967;21963094;21988832;22848420;23392669;23001845;21693764;21906983;21951999;22007000;22016052;21866569;22246806;22052162;22233381;22363646;22338651;18052253;19053519;22422769;23128233;23078367;23205607;23241898;23090478;23242184;23471465;22813743;23339444;2366175;22691366 468 P18848;Q96AQ3 ABBA01055574;AK057751;AK296028;AL022312;AMYH01012779;BC008090;BC011994;BC016855;BC022088;BC024775;BC044895;BC073754;BC073990;CH471095;CR450353;CR456384;D90209;M86842;NM_001675;NM_182810 AAA52071;AAH08090;AAH11994;AAH16855;AAH22088;AAH24775;AAH44895;AAH73754;AAH73990;ABM82684;ABM85868;BAA14234;BAG58796;CAG29349;CAG30270;CAK54373;CAK54672;EAW60341;EAW60342;NP_001666;NP_877962;P18848 Hs.496487 1776635;1792878;2158482;2218264;5113387 ATF4_4333;PMC166200P2;RH48164;RH71390;RH79684 CREB-2;CREB2;TAXREB67;TXREB DNA-binding protein TAXREB67;OTTHUMP00000199130;OTTHUMP00000199131;activating transcription factor atf-4;cAMP response element-binding protein 2;cAMP-dependent transcription factor ATF-4;cAMP-responsive element-binding protein 2;cyclic AMP-dependent transcription factor ATF-4;cyclic AMP-responsive element-binding protein 2;tax-responsive enhancer element B67;tax-responsive enhancer element-binding protein 67 APPROVED protein-coding ENSG00000128272 786 06817 604064 REVIEWED 1346168 ATF6B activating transcription factor 6 beta The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 p21.3 32191016 32203995 - 32083045 32096017 - 1580863;6480464;6907045 8586413;8870652;14973138;14702039;14656967;14574404;12782636;12477932;11256944;11163209;11158310;10644760;8923003;7686164;12445808;19913121;20628086;19693772;19851445;21139048;21693764;18029348 1388 H0Y7D7;Q6AZW6;Q9H3V9 ABBA01038104;AK000928;AL049547;AL662828;AL662884;AMYH01016232;BC008394;BC077075;BT007042;CH471081;CR753803;CR925796;NM_001136153;NM_004381;U31903;U52693;U52694;U52696;U52701;U89337;X98053;X98054 AAA97438;AAB47487;AAG14898;AAG14900;AAH08394;AAH77075;AAP35691;CAA66663;CAA66664;CAB89295;EAX03581;EAX03582;EAX03583;EAX03584;EAX03585;NP_001129625;NP_004372;Q99941 Hs.42853 1687938;1788596;2114344;2137972;2140482;2189367;2218436;5014051;5015619;5016478;5037552 CREBL1_4188;D11S3114;D8S2278;D8S2279;GDB:434012;MARC2535-2536;MARC_2920-2921:991933729:7;RH46843;RH92380;STS-N24775;STS-X98054 CREB-RP;CREBL1;FLJ10066;G13 ATF6-beta;Creb-related protein;OTTHUMP00000029432;OTTHUMP00000029433;cAMP response element-binding protein-related protein;cAMP responsive element binding protein-like 1;cAMP-dependent transcription factor ATF-6 beta;cAMP-responsive element-binding protein-like 1;cyclic AMP-dependent transcription factor ATF-6 beta;protein G13 APPROVED protein-coding ENSG00000213676 2349 02992 600984 REVIEWED 1312669 ATF7 activating transcription factor 7 12 12 q13 52196026 52306403 - 53901640 54020199 - 1580863;6480464 1694576;18029348;18950637;17081983;16344560;15735663;15342556;14643450;12805554;12477932;11278933;10698518;8939888;8889548;8649858;8288576;18671972;7769693;15867431;20189936;17264123;10376527;22939629;16147992;21858082;21693764;19471022;21998595;22242598 11016 F8VWG7;K7EKZ7;K7ESA4;P17544 AA679547;ABBA01008343;ABBA01008344;ABBA01008345;ABBA01008346;ABBA01008347;ABBA01008348;ABBA01008349;AC023509;AC073594;AK298853;AK302907;AK310355;AK313507;AMYH01004482;BC032433;BC042363;BC136302;BC140006;BP279417;BP312300;BQ184780;CH471054;DB047160;DB490927;NM_001130060;NM_001206682;NM_001206683;NM_006856;NR_073163;X52943;X57197 AAH42363;AAI36303;AAI40007;BAG36287;BAG60976;BAG64077;CAA37118;CAA40483;EAW96723;EAW96724;NP_001123532;NP_001193611;NP_001193612;NP_006847;P17544 Hs.12286;Hs.633602 1649597;1663627;1698130;1733546;1733552;1768539;1770269;1852420;2107793;2110161;2127255 D12S884;D12S887;MARC_34356-34357:1062684397:1;RH102598;RH18103;RH44962;SHGC-57261;STS-R37637;STS-R96214;WI-8969;st305c11-8a10 ATFA;MGC57182 OTTHUMP00000242069;OTTHUMP00000242319;cAMP-dependent transcription factor ATF-7;cyclic AMP-dependent transcription factor ATF-7;transcription factor ATF-A protein-coding ENSG00000170653 792 06968 606371 VALIDATED 6481023 ATG10-IT1 ATG10 intronic transcript 1 (non-protein coding) 100874311 AC114969 miscrna 41455 6481370 ATG10-AS1 ATG10 antisense RNA 1 100874022 AC114969 APPROVED miscrna 40914 4888931 ATG12P2 autophagy related 12 pseudogene 2 2 2 217532130 217535532 - 223766382 223769777 - 9847074 100293948 ABBA01023806;AC013476;AMYH01011523;NG_016651 2144811 A008B44 APPROVED pseudo 38605 INFERRED 2293247 ATG12P1 autophagy related 12 pseudogene 1 17 17 17 q25.1 67646673 67647431 - 71063684 71064442 - 71063684 71064442 - 20723759 100151642 ABBA01028877;AC025198;AMYH01008613;NG_007656 1686130 RH91208 ATG12P APPROVED pseudo 21466 INFERRED 1350993 ATF5 activating transcription factor 5 19 19 q13.3 55124272 55129003 + 50431959 50437193 + 1580863;6480464 10373550;19285020;19251251;18832568;18701499;18458088;18332083;18195013;18055463;17346882;16344560;16300731;16170340;16164412;15890932;15489334;15358120;15221005;14702039;12812986;12477932;11278933;11087824;1371974;22442021;18276110;19531563;20379614;21212266;20423929;15342556;8889548;18029348;21521685;23018213;2366175;21791614;21972289;22528486;21988832;23275563 22809 M0QZD2;M0R040;M0R0D5;Q9Y2D1 AB021663;AB073613;ABBA01032907;AC011452;AF101388;AF305687;AK024402;AK091985;AK290592;AMYH01009919;AMYH01009920;BC005174;BF528888;BM462249;BP378116;BU187153;BU730542;CH471177;DA251296;DA684664;NG_021170;NG_023448;NM_001193646;NM_012068 AAD28370;AAG22558;AAH05174;BAA78477;BAD38650;BAF83281;BAG51295;EAW52581;EAW52582;EAW52583;NP_001180575;NP_036200;Q9Y2D1 Hs.9754 1681217;2129143 D19S669E;RH79668 ATFX;FLJ34666;HMFN0395 cAMP-dependent transcription factor ATF-5;cyclic AMP-dependent transcription factor ATF-5;transcription factor ATFx 1643251 BW139_H protein-coding ENSG00000169136 790 05906 606398 VALIDATED 1313517 ATF6 activating transcription factor 6 This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011] 1 1 q22-q23 160002708 160195476 + 161736034 161933860 + 1580863;6480464;6907045 9271374;10866666;10564271;9837962;19420237;19304306;19122331;18840095;18650380;18635891;18022401;17686766;17522056;17442311;17440018;17327457;17101776;17092596;16710414;16505252;15598891;15489334;15299016;15063770;14765107;14699159;12949534;12805554;12782636;12713871;12477932;12097557;12076252;12014989;11909875;11821395;11805088;11483355;11287625;11256944;11163209;11158310;2516827;21521793;19913121;20628086;16469704;19667116;19693772;19722195;19723703;19772629;19822759;20800603;20219975;20936779;21211013;15342556;21131360;21150130;21329801;21329806;21345978;21355074;21454619;21809331;8889548;15899857;21106748;22146569;21832049;22917505;23011799;21385877;22956602;20732420;16196087;20160352;21841196;21693764;21906983;22013072;22102412;22577136;22354938;21963094;21988832;22872700;19816510;23382691;23037953;2366175 22926 A8K383;P18850 AB015856;AB208929;ABBA01047311;ABBA01047312;ABBA01047313;AF005887;AF088035;AK025316;AK290498;AL359541;AL391825;AL450995;AMYH01001463;BC014969;BC071997;BM683233;BP380917;BX538263;CH471067;NG_029773;NM_007348 AAB64434;AAH14969;AAH71997;AAI66676;BAA34722;BAD92166;BAF83187;EAW90694;NP_031374;P18850 Hs.492740;Hs.617868 1653170;1675249;1693110;1770481;1771808;1992856;2116438;2122251;2151408;2176322;5014051;5015619;5021872;5022200;5037552;5109281 AL034282;D11S3114;D1S1425;D8S2278;D8S2279;G16275;L18426;REN67335;RH68768;RH69585;RH69812;RH78635;SHGC-32839;STS-H29771;WI-13539;sY3084 ATF6A;DKFZp686P2194;FLJ21663 ATF6-alpha;OTTHUMP00000025585;activating transcription factor 6 alpha;cAMP-dependent transcription factor ATF-6 alpha;cyclic AMP-dependent transcription factor ATF-6 alpha APPROVED protein-coding ENSG00000118217 791 16118 605537 REVIEWED 1314412 ATF7IP activating transcription factor 7 interacting protein ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010] 12 12 12 p13.1 19663702 19796793 + 14409878 14542964 + 14518611 14651697 + 6480464 12665582;19106100;18842587;17081983;16757475;16314315;15691849;15489334;15231748;14702039;14536086;12812986;12659632;12477932;10976766;10777215;18029348;20543847;19394292;20936779;22939629;20549333;21987572;19471022;21139048;21693764;21890473;21906983;21963094;21988832;23000965;23359319 55729 A8MV73;B3KNI7;B3KQF8;F5GX74;F5GYR7;F5GZ10;F5GZ98;F5H1K9;F5H221;F5H2H9;F5H2W9;F5H3C4;F5H502;F5H592;F5H6X8;F5H8I0;F8WE35;G3V1U0;H0YFA3;Q6VMQ6 ABBA01067875;ABBA01067876;ABBA01067877;AC007782;AC008114;AC124892;AF425650;AJ242978;AK001001;AK001550;AK021569;AK025060;AK027575;AK074868;AK299320;AK304184;AMYH01004301;AY337596;BC037312;BC053625;BC063855;BX648096;CH471094;NM_018179 AAH37312;AAH63855;AAO91864;AAQ92978;BAA91751;BAG51349;BAG52020;BAG61328;BAG65064;CAB45135;EAW96314;EAW96315;EAW96316;EAW96317;EAW96318;EAW96319;EAW96320;NP_060649;Q6VMQ6 Hs.591151 1644517;1645822;1646356;1655348;1680978;1700440;1725997;1725999;1726051;2217042;5016478 1552;ATF7IP_3606;G41306;G62274;G62275;G62288;GDB:434012;RH103841;RH93222;WI-17556;WI-17987 AM;FLJ10139;FLJ10688;MCAF;MCAF1;p621 ATF-IP;ATF-interacting protein;ATF7-interacting protein;ATFa-associated modulator;MBD1-containing chromatin associated factor;MBD1-containing chromatin-associated factor 1;OTTHUMP00000239135;OTTHUMP00000239136;OTTHUMP00000239143;OTTHUMP00000239647;activating transcription factor 7-interacting protein 1;hAM APPROVED protein-coding ENSG00000171681 20092 09811 613644 VALIDATED 1314578 ATF7IP2 activating transcription factor 7 interacting protein 2 16 16 16 p13.13 10690093 10744829 + 10430226 10484996 + 10479912 10577495 + 6480464 15691849;15489334;14702039;12477932;8125298;20195266;18029348 80063 B4DKH3;F5GY73;H3BNE6;H3BPC9;H3BR07;H3BUP1;I3L4M8;Q5U623 ABBA01006791;ABBA01006792;ABBA01006793;AC131649;AK022730;AK093414;AK223492;AK296565;AK299040;AL832987;AMYH01007150;AY560615;BC033891;BC069695;BC069713;BC069730;BC137079;BC144468;BI459223;CH471112;NM_001256160;NM_024997;NR_045815;NR_045816 AAH33891;AAH69695;AAH69713;AAH69730;AAI37080;AAT66299;BAB14209;BAC04157;BAD97212;BAG59185;BAG61114;CAH56323;EAW85183;EAW85184;NP_001243089;NP_079273;Q5U623 Hs.513343;Hs.742019 1338142;1696380;2154482;2157827;2184105;2184474;5109362 D16S3215;D16S446;D17S1239;RH68741;SGC34713;SHGC-60831;SHGC-77832 FLJ12668;MCAF2 ATF7-interacting protein 2;MBD1-containing chromatin associated factor 2;MBD1-containing chromatin-associated factor 2;OTTHUMP00000160167;OTTHUMP00000160168;activating transcription factor 7-interacting protein 2 protein-coding ENSG00000166669 20397 16517 613645 VALIDATED 1351458 ATG10 autophagy related 10 Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008] 5 5 5 q14.1 77171858 77456206 + 81303630 81586528 + 81267844 81551213 + 1580863;1643329;4889529;6480464 15325588;20034776 15489336;15489334;14702039;12890687;12482611;12477932;11230166;11076863;8125298;2890687;17353931;17256008;16963840;11256614;16381901;15498874;20562859;15657430;20379614;23285162 83734 D6RBD1;D6RC89;D6RDX3;Q9H0Y0 ABBA01062064;ABBA01062065;ABBA01062066;ABBA01062067;ABBA01062068;ABBA01062069;ABBA01062070;AC010598;AC106824;AC114969;AF318326;AI436652;AK024016;AK225969;AK315752;AL136912;AMYH01015449;AMYH01015450;AMYH01015451;BC004551;BC027718;BC029268;CH471084;NM_001131028;NM_031482 AAH29268;AAL55833;ABM83358;ABM86570;BAB14778;BAG38106;CAB66846;CAL38733;EAW95881;EAW95882;EAW95883;EAW95884;EAW95885;EAW95886;NP_001124500;NP_113670;Q9H0Y0 Hs.713698 1338292;1695588;1731291;2116239;5017433;5020635 D5S2029;D5S253;D5S806;D7S3207;SHGC-68947;STS-T76997 APG10;APG10L;DKFZp586I0418;FLJ13954;pp12616 APG10 autophagy 10-like;APG10-like;ATG10 autophagy related 10 homolog;OTTHUMP00000147582;OTTHUMP00000222340;apg10 autophagy 10-like (s. cerevisiae);autophagy-related protein 10;ubiquitin-like-conjugating enzyme ATG10 APPROVED protein-coding 20315 16497 610800 VALIDATED 1606757 ATG16L2 autophagy related 16-like 2 (S. cerevisiae) 11 11 11 q13.4 69829970 69845200 + 72203099 72218328 + 72525451 72540680 + 1643329;4889529;6480464 15325588;20034776 14702039;12477932;11214971;21900206;23266558 89849 F5GWM4;F5GWZ9;F5H7B6;H0YF72;H0YFC3;H0YFG0;H0YFZ7;H0YG45;H0YG67;H0YGE3;H0YGJ8;Q8NAA4;Q9H7Q5 ABBA01017531;AK024423;AK090597;AK091151;AK093017;AK303270;AL832974;AMYH01003797;AP002381;BC036713;BC069189;BC108672;BC137489;BC137490;BC142718;BC146660;BQ929430;CH471076;NM_033388 AAH36713;AAI08673;AAI37490;AAI37491;AAI42719;AAI46661;BAB15713;BAC03485;BAC04021;BAG64352;CAH56355;EAW74874;EAW74875;EAW74876;EAW74877;EAW74878;EAW74879;NP_203746;Q8NAA4 Hs.653186 2136130;2182016;5091717 G30987;RH45037;SGC32787 ATG16B;FLJ00012;WDR80 APG16-like 2;ATG16 autophagy related 16-like 2;OTTHUMP00000237478;OTTHUMP00000237485;OTTHUMP00000237486;OTTHUMP00000237487;WD repeat-containing protein 80;autophagy-related protein 16-2 APPROVED protein-coding ENSG00000168010 25464 10959 VALIDATED 1604391 ATG2A autophagy related 2A 11 11 11 q13.1 61988071 62010793 - 64418595 64441239 - 64662004 64684722 - 6480464 12477932;9253601;9455477;19615732;20379614;20562859;22219374;21887408 23130 H7C3T2;Q2TAZ0 AB007864;ABBA01024139;AI638563;AK126181;AK300925;AK307684;AMYH01003715;AP001187;BC008593;BC027481;BC033850;BC053596;BC110650;BC113090;BC113091;CH471076;NM_015104 AAH08593;AAH27481;AAH53596;AAI10651;AAI13091;AAI13092;BAA23700;BAC86477;BAG62557;EAW74323;NP_055919;Q2TAZ0 Hs.370671 1770123;1799092;1799894;1801010;1801558;1802104;1802216;1802278;1802892;1803546;1803690;1806616;1806672;1812146;1816734;1817786;1818720;1818780;1828942;1829670;1833570;1837286;1840192;1841540;1843784;1972016;1972018;1972020;1972022;1972024;1972026;1972028;1972030;1972032;1972034;1972036;1972038;1972040;1972042;1972044;1972046;1972048;1972050;1972052;1972054;1972056;1972058;1972060;1972062;1972064;1972066;1972068;1972070;1972072;1972074;1972076;1972078;1972080;1972082;1972084;1972086;1972088;1972090;1972092;1972094;1972096;1972098;1972100;1972102;1972104;1972106;1972108;1972110;1972112;1972114;1972116;1972118;1972120;1972122;1972124;1972126;1972128;1972130;1972132;1972134;1972136;1972138;1972140;1972142;1972144;1972146;1972148;1972150;1972152;1972154;1972156;1972158;1972160;1972162;1972164;1972166;1972168;1972170;1972172;1972174;1972176;1972178;1972180;1972182;1972184;1972186;1972188;1972190;1972192;1972194;1972196;1972198;1972200;1972202;1972204;1972206;1972208;1972210;1972212;1972214;2136970;5014577;5015619;5015810;5015961;5037552;7187403 D11S3114;D11S4940;D15S1477;D8S2279;ECD00392;ECD00801;ECD01371;ECD01657;ECD01934;ECD01991;ECD02023;ECD02335;ECD02674;ECD02751;ECD04265;ECD04293;ECD07078;ECD09411;ECD09947;ECD10424;ECD10454;ECD15598;ECD15967;ECD17928;ECD19810;ECD21280;ECD21967;ECD23103;G33103;GDB:182516;REN56893;REN56894;REN56895;REN56896;REN56897;REN56898;REN56899;REN56900;REN56901;REN56902;REN56903;REN56904;REN56905;REN56906;REN56907;REN56908;REN56909;REN56910;REN56911;REN56912;REN56913;REN56914;REN56915;REN56916;REN56917;REN56918;REN56919;REN56920;REN56921;REN56922;REN56923;REN56924;REN56925;REN56926;REN56927;REN56928;REN56929;REN56930;REN56931;REN56932;REN56933;REN56934;REN56935;REN56936;REN56937;REN56938;REN56939;REN56940;REN56941;REN56942;REN56943;REN56944;REN56945;REN56946;REN56947;REN56948;REN56949;REN56950;REN56951;REN56952;REN56953;REN56954;REN56955;REN56956;REN56957;REN56958;REN56959;REN56960;REN56961;REN56962;REN56963;REN56964;REN56965;REN56966;REN56967;REN56968;REN56969;REN56970;REN56971;REN56972;REN56973;REN56974;REN56975;REN56976;REN56977;REN56978;REN56979;REN56980;REN56981;REN56982;REN56983;REN56984;REN56985;REN56986;REN56987;REN56988;REN56989;REN56990;REN56991;REN56992;RH65343 KIAA0404;MGC117153 ATG2 autophagy related 2 homolog A;OTTHUMP00000069743;OTTHUMP00000069745;autophagy-related protein 2 homolog A APPROVED protein-coding ENSG00000110046 29028 17186 VALIDATED 1602498 ATG13 autophagy related 13 11 11 11 p11.2 46786959 46844582 + 46595703 46652644 + 46638826 46697569 + 4889529;6480464;6484113 20034776 12107413;19287211;19258318;19225151;19211835;18936157;16344560;15489334;14702039;12477932;9734811;9110174;8619474;8125298;17207965;17204848;19597335;19690328;20562859;20694011;21832049;16196087;21475306;21900206;21460630;21976705;23043107 9776 A8K0S6;E9PML6;E9PPR2;H0YCL5;H0YDR0;H0YEM7;H0YF43;J3KRU6;J3KST9;J3QLH7;J3QR16;J3QR83;J3QRL1;J9JIF6;O75143 AB014552;ABBA01060733;ABBA01060734;ABBA01060735;ABBA01060736;AC115088;AC127035;AF052175;AK000705;AK023867;AK223603;AK289641;AK293109;AK294110;AK296526;AK315925;AMYH01003536;BC001331;BC002378;BC006191;CD675643;CH471064;DA195671;NM_001142673;NM_001205119;NM_001205120;NM_001205121;NM_001205122;NM_014741 AAH01331;AAH02378;AAH06191;ACT64495;ACT64496;ADQ32740;BAA31627;BAB14707;BAD97323;BAF82330;BAF85798;BAG57445;BAG59157;BAH14296;EAW67985;EAW67986;EAW67987;EAW67988;EAW67989;EAW67990;EAW67991;NP_001136145;NP_001192048;NP_001192049;NP_001192050;NP_001192051;NP_055556;O75143 Hs.127403 1737711;2123023;2161887;2163649 D11S2311E;D11S3306;RH15977;T16117 FLJ20698;KIAA0652;PARATARG8 ATG13 autophagy related 13 homolog;OTTHUMP00000233321;OTTHUMP00000233322;OTTHUMP00000233323;OTTHUMP00000233324;OTTHUMP00000233325;OTTHUMP00000233326;autophagy-related protein 13 APPROVED protein-coding 29091 13809 615088 VALIDATED 2289735 ATG3P1 autophagy related 3 pseudogene 1 20 20 q12 34668259 34669404 - 37957498 37958643 - 100135756 ABBA01052540;AL121588;AMYH01011907;AY392024;NG_007378 AGP3;ATG3P;dJ54G6.1 APPROVED pseudo 31123 INFERRED 1312148 ATG14 autophagy related 14 14 14 14 q22.3 35882502 35927962 - 54902863 54948329 - 55833109 55878576 - 4889529;6480464 20034776 19050071;18843052;17081983;15489334;14702039;12477932;10048485;19270696;16751776;20562859;20713597;23197835;22992773;22314358;21906983;19322201;22797916;22797925 22863 Q6ZNE5 AA988343;ABBA01018207;AK131251;AK292810;AL049978;AL158801;AL356801;AMYH01005746;AMYH01005747;BC028015;BC109089;BC109090;BR000826;CH471061;HI573906;NM_014924 AAI09090;AAI09091;BAD18430;BAF85499;CBX47442;EAW80672;EAW80673;EAW80674;FAA00433;NP_055739;Q6ZNE5 Hs.414809 1647662;1698948;1774840;2149888;2166421;2166603;2166882;5014057;5022578;5024761;5093948;5096107 A009Z21;D1S1423;D1S3699;G33017;G35363;G35867;RH103043;RH36905;RH64855;RH68681;SHGC-33813;SHGC-52499 ATG14L;BARKOR;KIAA0831;MGC126291;MGC126292 ATG14 autophagy related 14 homolog;Barkor;Beclin 1-Interacting protein;autophagy-related protein 14-like protein;beclin 1-associated autophagy-related key regulator APPROVED protein-coding ENSG00000126775 19962 13820 613515 VALIDATED 1321647 ATG16L1 autophagy related 16-like 1 (S. cerevisiae) The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] 2 2 q37.1 233824956 233869059 + 234160217 234204320 + 1643329;4889529;6480464;7240710 15325588;20034776 17353931;15620219;19491842;19422935;19337756;19334001;19276991;19262523;19235913;19174780;19139628;18985712;18852889;18849966;18824555;18715515;18698678;18671817;18587394;18521924;18521914;18499543;18495612;18448665;18438406;18366306;18338763;18200510;18166373;18162085;18088053;18047540;17921695;17894849;17625155;17554300;17534574;17484864;17455206;17435756;17200669;16344560;15489334;14743216;14702039;12975309;12665549;12477932;11181995;21987459;22342342;22370477;21513755;20639872;19120485;19269148;19575361;19590455;19659808;19683022;19783656;19898471;20014019;20024904;20066736;20082483;20222171;20380008;20395867;20485703;19760754;20637199;20722066;20839241;20846217;20875485;20886065;20962850;21072187;20562859;20697744;21102463;20570966;21206965;20417604;21832049;22275320;22863883;21734790;21674723;21406388;22412388;21890473;22346247;21618365;21879234;19322201;22302078;23376921;22885761;23300079;23202584;23262492;23434281;22936669;23128233 55054 C9J1B2;C9J8C6;C9JAY7;C9JK97;E7EVC7;F8WAF9;Q17RG0;Q53SV2;Q96JV5 AA809053;ABBA01001947;AC013726;AK000897;AK001690;AK024453;AK026330;AK027854;AK074434;AK123876;AK308400;AL834526;AMYH01011577;AY358182;AY398617;BC000061;BC006253;BC013411;BC071846;BC117337;BC143900;BG702756;CH471063;DB084962;DB474638;EF079889;EF079890;EF560734;NG_023038;NM_001190266;NM_001190267;NM_017974;NM_030803;NM_198890 AAH71846;AAI17338;AAI43901;AAQ88549;AAR32130;AAY14860;ABN48554;ABN48555;ABQ59044;BAA91413;BAB15448;BAB15743;BAB55412;BAB85082;BAC85713;CAD39182;EAW71033;EAW71034;EAW71035;EAW71036;EAW71037;EAW71038;EAW71039;EAW71040;NP_001177195;NP_001177196;NP_060444;NP_110430;NP_942593;Q676U5 Hs.529322 2109049;2111340;2114299;2165384;7184972 APG16L_9868;D2S1507E;WI-11277;WI-12735 APG16L;ATG16A;ATG16L;FLJ00045;FLJ10035;FLJ10828;FLJ22677;IBD10;WDR30 APG16L beta;ATG16 autophagy related 16-like 1;OTTHUMP00000164391;OTTHUMP00000164393;OTTHUMP00000165876;OTTHUMP00000165877;WD repeat domain 30;apg16 autophagy 16-like (s. cerevisiae);autophagy-related protein 16-1 APPROVED protein-coding ENSG00000085978 21498 16498 610767;611081 REVIEWED 1314851 ATG12 autophagy related 12 Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008] 5 5 q21-q22 115193714 115205398 - 115163893 115177548 - 1580863;1643329;2301217;4889529;6480464;6907045 15325588;18059433;20034776 9852036;11096062;11825910;19197948;19124466;17457038;16189514;15489334;14702039;12665549;12482611;12477932;12207896;11890701;9490301;8889548;17353931;22170153;20723759;22342342;15146197;15342556;16344560;19901552;20562859;20417604;21832049;22152474;22318606;21139048;21906983;23202584 9140 C1IDX9;D6RB14;H0Y9W4;H0YA29;H7BYD7;O94817 AB002440;AB002449;AB017507;ABBA01069029;AC026449;AK098251;AK313320;AL161968;AMYH01015563;BC011033;BC012266;BM697565;BP335591;BX327373;CB995198;CH471086;CN400030;CR978239;DA005347;DB048378;DB530852;EU554057;NM_001277783;NM_004707;NR_033362;NR_033363;NR_073603 AAH11033;AAH12266;ACD74941;BAA36493;BAG36125;EAW48954;EAW48955;EAW48956;NP_001264712;NP_004698;O94817 Hs.264482 1657408;1675271;1686130;1690103;2119656;2174000;5015861;5016596;7185938 D10S16;GDB:631802;RH68562;RH79593;RH91208;STS-N35906;WI-14939;WI-15770 APG12;APG12L;FBR93;HAPG12 APG12 autophagy 12-like;APG12-like;ATG12 autophagy related 12 homolog;Apg12 (autophagy, yeast) homolog;OTTHUMP00000159129;apg12 autophagy 12-like (s. cerevisiae);autophagy-related protein 12;ubiquitin-like protein ATG12 APPROVED protein-coding ENSG00000145782 588 08496 609608 VALIDATED 1312572 ATG2B autophagy related 2B 14 14 14 q32.2 76803312 76885404 - 95817348 95899431 - 96747595 96829678 - 6480464 19197948;15489334;15028280;14702039;12508121;12477932;22219374;20562859;22350415 55102 Q96BY7 ABBA01048595;AK001104;AK055200;AK123451;AK128275;AK302641;AL133095;AL355102;AL359240;AMYH01005977;BC015016;BC015851;BU101822;BU166120;BU167202;CH471061;NM_018036 AAH15016;BAA91504;BAB70872;BAC87363;BAG63882;EAW81633;NP_060506;Q96BY7 Hs.168241 1644343;1669230;1696256;1705618;1715661;1847157;1848777;2164197 A006S30;G09667;RH119276;RH47969;RH70020;SHGC-83311;SHGC-83632;WI-14378 C14orf103;FLJ10242 ATG2 autophagy related 2 homolog B;OTTHUMP00000195210;autophagy-related protein 2 homolog B APPROVED protein-coding ENSG00000066739 20187 12626 VALIDATED 1353416 ATG3 autophagy related 3 This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 3 3 3 q13.2 110660041 110689158 - 113734049 113763175 - 112251359 112280485 - 737633;1580863;1643237;1643329;4889529;6480464;6907045 12477932;17110912;15325588;20034776 11825910;14702039;16704426;15592455;15489334;15144186;17353931;19342671;22644571;19838173;20697744;20723759;20562859;15355958;16303767;22863883;19932681;20061800;21139048;21906983;22053931;22505724;23119048 64422 C9JNW8;F8WDI0;Q9NT62 AA448974;AB079384;ABBA01061663;AC092692;AF202092;AK025778;AK307432;AK308919;AL137515;AMYH01013392;AW408464;BC002830;BC024221;BC043267;CH471052;DC311625;NM_001278712;NM_022488 AAG35611;AAH02830;AAH24221;ABM84350;ABM87773;BAB15237;BAB90843;CAB70781;EAW79668;EAW79669;EAW79670;EAW79671;NP_001265641;NP_071933;Q9NT62 Hs.477126 1660425;1715573;2119998;2165768;2165770 A006E19;G20743;GDB:372310;RH120928;WI-22015 APG3;APG3-LIKE;APG3L;DKFZp564M1178;FLJ22125;MGC15201;PC3-96 2610016C12Rik;APG3 autophagy 3-like;ATG3 autophagy related 3 homolog;OTTHUMP00000214547;OTTHUMP00000214548;apg3 autophagy 3-like (s. cerevisiae);autophagy Apg3p/Aut1p-like;autophagy-related protein 3;hApg3;ubiquitin-like-conjugating enzyme ATG3 APPROVED protein-coding 20962 10654 609606 REVIEWED 1348604 ATG4D autophagy related 4D, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 p13.2 10549363 10558810 + 10515647 10525094 + 10654647 10664094 + 1580863;1643329;6480464;6907045 15325588 12446702;15489334;14702039;12477932;8125298;17207965;19549685;8889548;21906983;22441018 84971 K7EJA5;K7EKP6;K7EMB9;K7EN30;K7EP43;K7EPJ0;K7EQ67;K7EQN3;K7ERK1;K7ESM7;Q86TL0;Q969K0 ABBA01029914;ABBA01029915;AC011461;AJ312332;AK056210;AK223383;AK294676;AK314712;AK316454;AMYH01009476;AMYH01009477;BC007639;BC016845;BC068992;BM671285;CH471106;HY063028;NM_001281504;NM_032885;NR_104024;NR_104025 AAH07639;AAH16845;AAH68992;ADQ32084;ADZ15779;BAB71121;BAD97103;BAG57839;BAH14825;CAC85951;EAW84116;EAW84117;EAW84118;EAW84119;NP_001268433;NP_116274;Q86TL0 Hs.512799 1676344 RH94334 APG4-D;APG4D;AUTL4 APG4 autophagy 4 homolog D;ATG4 autophagy related 4 homolog D;AUT-like 4 cysteine endopeptidase;AUT-like 4, cysteine endopeptidase;apg4 autophagy 4 homolog d (s. cerevisiae);autophagin-4;autophagy-related cysteine endopeptidase 4;autophagy-related protein 4 homolog D;cysteine protease ATG4D;cysteine protease involved in autophagy APPROVED protein-coding ENSG00000130734 20789 07005 611340 REVIEWED 1604759 ATG4A autophagy related 4A, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q22.1-q22.3 107806406 107869363 + 107221590 107284552 + 107334899 107397901 + 1643329;6480464;6907045 15325588 21177865;12473658;15169837;12446702;17347651;15772651;15489334;14702039;12477932;17207965;20819778;21122541;21297227 115201 F5H3G3;F8W7J2;G5E979;H7BYM2;Q96KQ0 AA648264;AB066214;ABBA01035973;ABBA01035974;ABBA01035975;ABBA01035976;ABBA01035977;ABBA01035978;ABBA01035979;ABBA01035980;AJ320508;AJ320509;AJ504651;AK054927;AK123287;AK293533;AK314429;AL031177;AMYH01022835;BC041862;BC061696;BM541631;CH471120;NM_052936;NM_178270 AAH41862;AAH61696;ADQ32188;BAB83889;BAG37044;BAG57015;CAC69076;CAC69077;CAD43218;EAX02689;EAX02690;EAX02691;EAX02692;EAX02693;EAX02694;EAX02695;EAX02696;NP_443168;NP_840054;Q8WYN0 Hs.8763 1643970;1651343;1690780;1702098;1703868;1745811;1757433;1857382;1857384;2124310;2174117;2174119 A006H40;AL022448;DXS7743;DXS7882;DXS8284;G20822;GDB:642223;RH26790;RH36508;SHGC-144818;SHGC-79051;WI-18722 APG4A;AUTL2 APG4 autophagy 4 homolog A;ATG4 autophagy related 4 homolog A;AUT-like 2 cysteine endopeptidase;AUT-like 2, cysteine endopeptidase;OTTHUMP00000023821;OTTHUMP00000023822;OTTHUMP00000023825;autophagin 2;autophagin-2;autophagy-related cysteine endopeptidase 2;autophagy-related protein 4 homolog A;cysteine protease ATG4A;hAPG4A APPROVED protein-coding ENSG00000101844 16489 06455 300663 REVIEWED 1317140 ATG4C autophagy related 4C, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 61538646 61618912 + 63022391 63102638 + 63249777 63330941 + 1643329;6480464;6907045 15325588 12446702;18029348;18193044;17442669;15489334;22248718;14702039;12477932;16344560;8889548;20562859;20966902;21139048 84938 A6NGQ4;C9JC51;H7BZW5;Q96DT6 ABBA01074582;ABBA01074583;ABBA01074584;ABBA01074585;AC099794;AC103923;AC119425;AJ312234;AJ320169;AK027773;AMYH01000670;BC008395;BC018678;BC033024;BI518482;BM146035;BM720875;BQ777265;CH471059;DB183325;NM_032852;NM_178221 AAH18678;AAH33024;ABM83408;ABM86619;BAB55356;CAC43939;CAC85556;EAX06579;EAX06580;NP_116241;NP_835739;Q96DT6 Hs.7353 1338928;1653001 D1S2835;SHGC-31906 APG4-C;APG4C;AUTL1;AUTL3;FLJ14867 APG4 autophagy 4 homolog C;ATG4 autophagy related 4 homolog C;AUT-like 1, cysteine endopeptidase;AUT-like 3 cysteine endopeptidase;OTTHUMP00000010714;OTTHUMP00000010715;apg4 autophagy 4 homolog c (s. cerevisiae);autophagin-3;autophagy-related cysteine endopeptidase 3;autophagy-related protein 4 homolog C;cysteine protease ATG4C APPROVED protein-coding ENSG00000125703 16040 07473 611339 REVIEWED 1352923 ATHS atherosclerosis susceptibility (lipoprotein associated) 7240710 1731344 470 793 1320126 ATG4B autophagy related 4B, cysteine peptidase Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q37.3 242225700 242261945 + 242577027 242613272 + 1643329;6480464;6907045 15325588 17353931;10231032;15169837;15187094;12446702;19322194;17081983;16704426;16381901;16325851;16183633;16169070;15489336;15489334;15355958;14702039;12477932;11230166;11076863;21177865;19615732;20562859;22939629;21900206;21139048;21906983;22674379;20010802;18387192 23192 B3KVU2;C9J1C1;C9J3C0;C9JIK8;C9JQ72;C9JVD5;F2Z2K8;F5H7P2;F8WD71;H0Y2Y0;H7C2A6;Q9Y2F2 AB023160;AB066215;ABBA01006062;AC133528;AJ504652;AK027332;AK027462;AK027763;AK123425;AK125277;AK296818;AK298109;AK302963;AK316167;AL050288;AL080168;AL133638;AMYH01011634;BC000719;BX648007;CH471063;NM_013325;NM_178326 AAH00719;AAY14919;ABM82795;BAA76787;BAB55042;BAB55127;BAB55353;BAB83890;BAC86110;BAG53904;BAG59391;BAG60394;BAG64112;BAH14538;CAB45756;CAD43219;CAH56198;CAL38626;EAW71278;EAW71279;EAW71280;EAW71281;NP_037457;NP_847896;Q9Y4P1 Hs.283610 1677670;1779182;1856673;2135704;2184858;5126716 A008U23;D2S2042;RH35842;RH47370;SHGC-34535;WI-17974 APG4B;AUTL1;MGC1353 APG4 autophagy 4 homolog B;ATG4 autophagy related 4 homolog B;AUT-like 1 cysteine endopeptidase;OTTHUMP00000200147;OTTHUMP00000200148;OTTHUMP00000200150;apg4 autophagy 4 homolog b (s. cerevisiae);autophagin-1;autophagy-related cysteine endopeptidase 1;autophagy-related protein 4 homolog B;cysteine protease ATG4B;hAPG4B APPROVED protein-coding ENSG00000168397 20790 16499 611338 REVIEWED 1353398 ATG5 autophagy related 5 6 6 q21 106739045 106880388 - 106632352 106773695 - 1580863;4889529;2301217;6480464;6907045 20034776;18059433 22170153;22342342;9852036;11096062;15292400;19375507;19197948;19194464;19148225;19124466;19066443;18353420;17353931;16341674;15778222;15489334;15342556;14702039;14574404;12703993;12665549;12482611;12477932;12417306;12207896;11825910;11725643;11349150;11266458;10702672;9563500;7796880;20697744;20529838;19783847;19838193;19881538;19901552;20038797;20379614;20580051;17207965;20962850;21068098;20562859;20190558;20417604;22863883;21664058;22993366;21655094;21622776;18296641;21722286;21995634;22040493;19322201;22536318;22052905;21795849;21139048;21906983;23317196;23273568;23075929;23202584;20639872;18448665;21976705;23384565 9474 A9UGY9;Q7Z3H3;Q9H1Y0 ABBA01026199;ABBA01026200;ABBA01026201;ABBA01026202;AF293841;AK001899;AK299577;AK315800;AL022067;AL133509;AL138917;AMYH01016564;BC002699;BC093011;BM831472;BP297166;BX537904;CH471051;CR749386;EU283338;EU283339;JQ924061;NM_004849;Y11588 AAG44955;AAH02699;AAH93011;ABX79918;ADQ32477;AGC52703;BAG50990;BAH13072;CAA72327;CAD97890;CAH18236;EAW48414;EAW48415;EAW48416;EAW48417;EAW48418;NP_004840;Q9H1Y0 Hs.486063 1674504;1685261;2159055;2185577;2190575 EST6B12;RH78069;RH93335;STS-N94345;WI-20363 APG5;APG5-LIKE;APG5L;ASP;hAPG5 APG5 (autophagy 5, S. cerevisiae)-like;APG5 autophagy 5-like;ATG5 autophagy related 5 homolog;ATG5 autophagy related 5-like;OTTHUMP00000017823;OTTHUMP00000017824;OTTHUMP00000017825;apg5 autophagy 5-like (s. cerevisiae);apoptosis specific protein;apoptosis-specific protein;autophagy protein 5 APPROVED protein-coding ENSG00000057663 589 16051 604261 VALIDATED 1312481 ATG7 autophagy related 7 This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vacuolar membranes. The protein shows homology to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. [provided by RefSeq, Jan 2009] 3 3 p25.3 11315160 11571557 + 11314010 11599139 + 1580863;1643329;1643198;4889529;6480464;6907045 15325588;17665967;20034776 11096062;11825910;10233149;12890687;19148225;19124466;18688877;16344560;16303743;15489334;15342556;12477932;11890701;12482611;16704426;20697744;20083906;16303767;18029348;19881538;20379614;20562859;20543840;21274862;22863883;21832049;21655094;18296641;21903422;22499945;22927446;21139048;22674379;22170151;20195357;21963094;23386620;19635843;23295909 10533 C9J415;C9JE55;C9JFF4;C9JGL2;C9JKA3;C9JNU2;F8WDY9;H7BZ92;H7C059;H7C2J8;H7C2R3;H7C369;O95352 ABBA01025217;ABBA01025218;ABBA01025219;ABBA01025220;ABBA01025221;ABBA01025222;ABBA01025223;ABBA01025224;ABBA01025225;AC020750;AC022001;AC026185;AC083855;AF094516;AK075221;AK298833;AK303694;AK314504;AL122075;AMYH01012976;AMYH01012977;AMYH01012978;BC000091;BP373819;CH471055;CQ783323;DA177126;NM_001136031;NM_001144912;NM_006395 AAC69630;AAH00091;BAG37104;BAG52088;BAG60963;BAG64682;CAB59250;CAF86536;EAW64093;EAW64094;EAW64095;EAW64096;EAW64097;NP_001129503;NP_001138384;NP_006386;O95352 Hs.38032 1341208;1643618;1644359;1647119;1681432;1686640;1739041;1852170;2121541;2129515;2143351;2149615;2150805;2160093;2164110;2166629;2168432;7186145 D3S1263;D3S3123;D3S3137;D3S3242;D3S3319;D3S3429;D3S3454;D3S3828;D3S4030;RH15949;RH25345;RH98571;SHGC-35171;SHGC-57938;SHGC-76706;SHGC-76717;STS-H83694 APG7-LIKE;APG7L;DKFZp434N0735;GSA7 APG7 autophagy 7-like;ATG12-activating enzyme E1 ATG7;ATG7 autophagy related 7 homolog;OTTHUMP00000160157;OTTHUMP00000207591;OTTHUMP00000207592;apg7 autophagy 7-like (s. cerevisiae);autophagy-related protein 7;hAGP7;ubiquitin activating enzyme E1-like protein;ubiquitin-activating enzyme E1-like protein;ubiquitin-like modifier-activating enzyme ATG7 APPROVED protein-coding ENSG00000197548 16935 12293 608760 VALIDATED 1312973 ATL2 atlastin GTPase 2 2 2 2 p22.3 38362844 38445253 - 38376628 38457919 - 38522027 38604432 - 737633;1580863;6480464 12477932 18270207;16344560;15517445;14702039;10508919;8125298;19665976;20360068;22065636;21139048;21890473;21906983 64225 B5MCN0;B7Z7X8;C9JC25;C9JQQ5;F8WBH0;F8WD17;F8WEN4;H7C3A2;Q8NHH9 ABBA01074991;ABBA01074992;ABBA01074993;ABBA01074994;ABBA01074995;ABBA01074996;ABBA01074997;AC016995;AF449187;AK026946;AK124434;AK225190;AK294049;AK294711;AK302621;AK303985;AK308894;AK316179;AMYH01010264;AMYH01010265;BC039050;BC053508;CH471053;DA643528;NM_001135673;NM_022374;NR_024191 AAH53508;AAM97341;AAM97342;AAX88950;BAB15598;BAH11658;BAH11856;BAH13764;BAH14091;BAH14550;EAX00375;EAX00376;EAX00377;NP_001129145;NP_071769;Q8NHH9 Hs.727652 1694696;1698872 G43537;RH103002 ARL3IP2;ARL6IP2;FLJ23293;atlastin2 ADP-ribosylation factor-like 6 interacting protein 2;ADP-ribosylation factor-like protein 6-interacting protein 2;ADP-ribosylation-like factor 6 interacting protein 2;ARL-6-interacting protein 2;OTTHUMP00000128257;OTTHUMP00000128258;OTTHUMP00000201418;OTTHUMP00000201419;OTTHUMP00000201420;aip-2;atlastin-2 protein-coding ENSG00000119787 24047 10662 609368 VALIDATED 1604792 ATHL1 ATH1, acid trehalase-like 1 (yeast) 11 11 11 p15.5 263762 270317 - 280694 285412 + 289138 295688 + 6480464 16341674;15342556;15146197;12477932;19834535;22990118 80162 B8ZZ60;E7EMA9;H0YCL6;H3BM00;Q32M88 ABBA01011168;ABBA01011169;AC136475;AI217945;AI919161;AK026288;AK074155;AK090428;AK296137;AL832932;AMYH01003277;BC048336;BC066641;BC109257;BC109258;BM842384;BP262327;CH471278;CN298034;NM_025092 AAI09258;AAI09259;BAB15431;BAB84981;BAC03409;BAG58879;CAH56316;EAW61223;EAW61224;EAW61225;EAW61226;EAW61227;EAW61228;EAW61229;EAW61230;EAW61231;EAW61232;NP_079368;Q32M88 Hs.353181 2179196 SGC34144 FLJ22635;MGC129858;MGC129859 OTTHUMP00000203396;OTTHUMP00000203397;OTTHUMP00000203398;acid trehalase-like protein 1 protein-coding ENSG00000142102 26210 07999 VALIDATED 1352218 ATG9B autophagy related 9B This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 7 7 7 q36.1 145266630 145278919 - 150340233 150352519 - 150709297 150721586 - 1643198;4889529;6480464 17665967;20034776 15755735;19423521;19197948;15234981;14702039;19657746;22374993;22606351;22879892;12477932;19423540;19948975;20083107;20406964;20416077;20438785;19913121;20628086;17403686 285973 Q674R7 AACC02000108;ABBA01035167;AC010973;AI221785;AI243432;AI827483;AK096734;AMYH01018142;AY316116;AY515311;BC128587;BK004019;NG_030317;NM_173681;NR_073169 AAI28588;AAQ86941;AAS87212;BAC04853;DAA05200;NP_775952;Q674R7 Hs.707300;Hs.716846 1682487;1848219;2156048;2177268 D7S2866;GDB:4585743;RH45385;RH99113 APG9L2;NOS3AS;SONE APG9-like 2;ATG9 autophagy related 9 homolog B;autophagy 9-like 2 protein;autophagy-related protein 9B;endothelial nitric oxide synthase antisense;nitric oxide synthase 3 antisense;nitric oxide synthase 3-overlapping antisense gene protein;protein sONE APPROVED protein-coding ENSG00000181652 21899 08253 612205 REVIEWED 1353328 ATG9A autophagy related 9A 2 2 2 q35 213853809 213864068 - 219792346 219802605 - 220084102 220094361 - 1580863;1643198;4889529;6480464 17665967;20034776 15755735;17081983;16381901;15489336;15489334;15342556;14702039;12477932;11230166;11076863;21068542;16940348;20819778;16169070;20379614;19893488;21900206;21903422;21987572;21139048;21890473;21906983;22456507 79065 C9IYZ9;C9JD65;C9JDK4;C9JFV2;C9JKV7;C9JS65;C9JX27;C9JXG2;F2Z3I6;H7C152;H7C1G6;Q9H6L1 ABBA01023846;ABBA01023847;AC068946;AK021732;AK025822;AK027448;AK056595;AK289755;AK302521;AK315553;AL833865;AMYH01011505;BC001098;BC001206;BC021202;BC065534;BK004018;BP284912;BX537984;BX538192;BX538198;CH471063;NM_001077198;NM_024085 AAH01098;AAH21202;AAH65534;BAB13882;BAB15246;BAB55119;BAF82444;BAG51759;BAG63795;CAD38723;CAD97944;CAD98061;CAD98064;CAL38676;DAA05199;EAW70706;EAW70707;NP_001070666;NP_076990;Q7Z3C6 Hs.323363 1651365;1674240;1753657;1850441;2183384;2191041;5017593 A002Q44;ATG9A;D2S1807;MARC_13747-13748:1003852080:1;RH68357;SHGC-107518;WI-19704 APG9L1;MGD3208;mATG9 APG9 autophagy 9-like 1;APG9-like 1;ATG9 autophagy related 9 homolog A;OTTHUMP00000206046;OTTHUMP00000206048;OTTHUMP00000206049;OTTHUMP00000206062;apg9 autophagy 9-like 1 (s. cerevisiae);autophagy 9-like 1 protein;autophagy-related protein 9A APPROVED protein-coding ENSG00000198925 22408 07979 612204 VALIDATED 1601766 ATL3 atlastin GTPase 3 11 11 11 q13.1 60720452 60763095 - 63153013 63195659 - 63396437 63439083 - 6480464 18270207;14702039;12477932;10737800;19665976;21832049;21987572;21139048;21890473;21906983;22505724 25923 C9JUU1;F5GWF8;F5H6I7;Q6DD88 ABBA01003256;ABBA01003257;AK023383;AK090822;AK094227;AK097588;AK301910;AL117600;AMYH01003694;AP000753;BC077727;BE710391;BI829120;BX642720;BX648468;CH471076;CR936784;NM_015459 AAH77727;BAB14552;BAC05111;BAG63336;CAB56010;EAW74161;EAW74162;EAW74163;NP_056274;Q6DD88 Hs.356719 2133625;2171887;2179937;5022200;5022578;5037552 A006Q18;D1S1423;D8S2279;G27556;L18426;RH12215 DKFZp564J0863 OTTHUMP00000237071;OTTHUMP00000237072;atlastin 3;atlastin-3 protein-coding 24526 13170 609369 VALIDATED 1352093 ATL1 atlastin GTPase 1 The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q22.1 50096500 50169141 + 50999800 51099786 + 1580863;6480464;7240710 22508509;18664244;18644145;18446315;17531128;17502470;17427918;17420921;17380240;17321752;16815977;16401858;16344560;16339213;15742100;15596607;15517445;15489334;15477516;15184642;14695538;14607301;14506257;12939451;12508121;12499504;12477932;12112092;11685207;9110174;8619474;8252041;8125298;7825576;12387898;19735987;21321493;21368113;19768483;21194679;20718791;20932283;16533974;19423133;19459885;19573020;19652243;19665976;19724895;19730024;19851296;20198315;20200447;20862796;21220294;21930898;22340599;23079343;21906983;21890473;21963094;23334294;20125193 51062 F8WD04;G3V321;G3V334;G3V4Y8;G3V5T4;H0YJ65;H0YJA7;Q53F53;Q8WXF7 ABBA01018139;ABBA01018140;ABBA01018141;ABBA01018142;AF131801;AF444143;AK223436;AK290185;AK312518;AL118556;AL606834;AL833591;AMYH01005723;AW674605;AY032844;BC010708;BG704589;BI601372;CH471078;CQ860306;CR457153;DA088230;DA397302;NG_009028;NM_001127713;NM_015915;NM_181598;R61338 AAD20047;AAH10708;AAK51160;AAL37898;BAD97156;BAF82874;CAG33434;CAH10392;CAH25961;EAW65705;EAW65706;EAW65707;EAW65708;EAW65709;NP_001121185;NP_056999;NP_853629;Q8WXF7 Hs.584905 1656847;1673492;1681298;1703856;1775032;2138956;2167117;5019907;5117012 G17830;G35761;G35806;G54794;HSC2BE052;RH98833;SHGC-79145;WI-16395;btcn28117 AD-FSP;FSP1;GBP3;HSN1D;SPG3;SPG3A;atlastin1 GBP-3;GTP-binding protein 3;OTTHUMP00000178981;OTTHUMP00000244698;atlastin-1;brain-specific GTP-binding protein;guanine nucleotide-binding protein 3;guanylate-binding protein 3;hGBP3;spastic paraplegia 3 protein A APPROVED protein-coding ENSG00000198513 11231 05918 182600;606439;613708 REVIEWED 731594 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009] 2 2 q35 215885081 215922724 + 216176679 216214496 + 1599355;1580863;70804;1300048;5135488;5144054;6480464;6907045;7240710;7242561 15114530;9332377;20005278;17408934;22332074 8567683;17353931;19193698;19161160;19016697;18845790;17617058;17530705;17439323;17410198;17181924;17009228;16009940;16947783;16447238;16344560;15677700;15489334;15457444;14966129;12477932;11948179;11096114;9598063;9378707;8867801;1286667;21319273;14756553;1574589;19858780;19902562;19936946;20029029;19913121;20628086;20634891;20877624;22863883;22939629;22053931;22505724;22586326;18781797;20639865;21139048;21890473;21906983;21987572;22180458 471 C9JLK0;E9PBU3;F2Z3E8;F5GWY2;F8WEF0;H7BZU3;H7C084;H7C1S2;P31939 AA494525;AB062403;ABBA01062788;ABBA01062789;AC073284;AK290067;AK298142;AK313066;AMYH01011488;BC008879;CH471063;D82348;D89976;DA043224;DA074758;NG_013002;NM_004044;U37436 AAA97405;AAH08879;AAY24062;ABM84188;ABM87590;BAA11559;BAA21762;BAB93490;BAF82756;BAG35895;BAG60418;EAW70523;EAW70524;EAW70525;EAW70526;EAW70527;EAW70528;EAW70529;NP_004035;P31939 Hs.90280 1646417;1650423;2123342 RH11837;SGC31824;WI-10220 AICAR;AICARFT;FLJ93545;IMPCHASE;PURH 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp;5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase;AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme;AICARFT/IMPCHASE;OTTHUMP00000163981;OTTHUMP00000206773;bifunctional purine biosynthesis protein PURH;phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase APPROVED protein-coding ENSG00000138363 794 03434 601731;608688 REVIEWED 1352790 ATN1 atrophin 1 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010] 12 12 p13.31 6903887 6921745 + 7033626 7051484 + 1358440;1580863;6480464;7240710 9184318 10332026;11984006;7647802;10814707;19235102;19039037;18651325;18182848;17965145;17503969;17081983;16967484;16858508;16534126;16407196;16091834;15302935;15223312;15148151;14756671;12812981;12477932;12464607;11843701;11807410;11781699;11121205;10737800;22083836;9845282;9647693;9361003;9074930;8965642;8852663;8786114;8723724;8325628;8136840;8136826;7951323;7842016;7485154;16169070;14645126;9535906;9949204;22315970;16713569;17577209;20196398;20977674;20696395;16481466;20339376;20589872;20301664;10973986;22342974;10085113;20811636;21827919;20467438;21988832;21890473;21749564 1822 P54259;Q86V38 ABBA01017668;ABBA01017669;AMYH01004210;AMYH01004211;AMYH01004212;AW411230;BC051795;BE142829;BQ448220;BQ880124;BQ897715;BQ957462;CH471116;D31840;D38529;D63808;NG_008047;NM_001007026;NM_001940;U23851;U47924 AAB50276;AAB51321;AAH51795;ABZ92035;BAA06626;BAA07534;BAA23631;EAW88706;EAW88707;EAW88708;NP_001007027;NP_001931;P54259 Hs.143766 1668496;1693756;1732307;1743205;1773574;1775539;1795774;1846582;2137943;2168225 AF021112;D12S1899;D12S755E;ENO2_37;G10506;G28537;GDB:303913;RH11235;SHGC-58828;STS-D31840 B37;D12S755E;DRPLA;HRS;NOD OTTHUMP00000239930;OTTHUMP00000239931;OTTHUMP00000239932;atrophin-1;dentatorubral-pallidoluysian atrophy (atrophin-1);dentatorubral-pallidoluysian atrophy protein APPROVED protein-coding ENSG00000111676 3033 06311 125370;607462 REVIEWED 1349240 ATOH1 atonal homolog 1 (Drosophila) This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008] 4 4 q22 94969101 94970165 + 94750078 94751142 + 1580863;6480464 22786753;8872459;22370966;19243219;18275842;17826772;17549667;17397818;17241872;17000673;16831200;16647036;16382053;15489334;14757642;12477932;12209986;11889557;11748221;9449674;19741118;19924642;20621629;21125297;22147253;22573682;22573692;22985730;23030416 474 Q6ISE7;Q92858 ABBA01063610;AC087413;AMYH01014402;BC069145;BC069578;BC069594;BC069604;BC113623;BC113625;CH471057;NM_005172;U61148 AAB41305;AAH69145;AAH69578;AAH69594;AAH69604;AAI13624;AAI13626;ABZ91994;ADR82945;EAX06046;NP_005163;Q92858 Hs.532680 1652028;1743337;1795404;2166547;5492929;5494051 ATOH1_309;GDB:314993;RH70687;SHGC-67257;UniSTS:480821;UniSTS:483276 ATH1;HATH1;MATH-1;bHLHa14 OTTHUMP00000161597;class A basic helix-loop-helix protein 14;helix-loop-helix protein hATH-1;protein atonal homolog 1 APPROVED protein-coding ENSG00000172238 797 03270 601461 REVIEWED 1603699 ATMIN ATM interactor 16 16 16 q23.2 65367853 65379348 + 79626959 79638452 + 81069458 81080951 + 6480464 8889548;19001856;18728389;18433721;17525732;15933716;15489334;12477932;9455477;20975950;19844255;21971545;22167198 23300 J3QRX7;O43313 AB007891;ABBA01016985;ABBA01016986;AC092718;AK025058;AK290943;AK301781;AK302556;AMYH01007848;BC002701;BI259534;BM693775;BX343387;BX375235;CF593326;CH471114;CR749457;NM_015251 AAH02701;BAA24861;BAF83632;BAH13552;BAH13741;CAH18291;EAW95549;EAW95550;EAW95551;EAW95552;NP_056066;O43313 Hs.16349;Hs.589959 1643608;1673006;1679435;1740197;2139892;5092332;5106381 D16S2944;D9S1775;G42176;RH65177;RH66612;RH70761;SGC32359 ASCIZ;DKFZp779K1455;FLJ50270;FLJ61620;FLJ76795;KIAA0431;ZNF822 ATM INteracting protein;ATM interactor;ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein;ATM/ATR-substrate CHEK2-interacting zinc finger protein;ATM/ATR-substrate CHK2-interacting zinc finger protein;zinc finger protein 822 protein-coding ENSG00000166454 29034 17188 614693 VALIDATED 1350083 ATOH8 atonal homolog 8 (Drosophila) 2 2 2 p11.2 85808992 85846589 + 85834531 85868700 + 85980909 86018506 + 737633;6480464 12477932 16344560;14702039;12419857;8889548;19913121;20628086;21857980;22354994 84913 Q96SQ7 ABBA01075767;ABBA01075768;ABBA01075769;ABBA01075770;AC012454;AC105053;AF529205;AK027614;AK074681;AK096049;AL831857;AMYH01010497;AMYH01010498;BC021207;BC094832;BM671127;BQ018438;CH471053;CQ783576;DA629171;NM_032827 AAH21207;AAH94832;AAO85773;BAB55233;BAC11135;CAF86744;CAH56263;EAW99481;EAW99482;NP_116216;Q96SQ7 Hs.135569 1340977;1700572;1759567;2140978 D2S2232;G31073;RH103908;SHGC-150973 FLJ14708;FLJ38730;HATH6;bHLHa21 OTTHUMP00000160681;atonal homolog 6;basic helix loop helix transcription factor 6;basic helix-loop-helix transcription factor 6;class A basic helix-loop-helix protein 21;helix-loop-helix protein hATH-6;protein atonal homolog 8 protein-coding 24126 09813 VALIDATED 1606040 ATM ataxia telangiectasia mutated The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] 11 11 q22-q23 107598769 107745036 + 108093559 108239826 + 1643349;1643350;1643351;2293870;2293869;2293868;2317367;2317363;2317234;2316155;2316156;1599367;1599366;6480464;6484113;6907045;7240710 17064299;11200774;10748873;14983937;16997395;17164260;16520463;19147782;18381943;19450511;16601750;11751435;11852039 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661334;19690177;19691550;19692168;19723050;19779458;19781682;19789190;19798429;19805520;19816404;19851285;19881958;19903823;19950226;19962312;19965871;19996108;20003485;20004998;20010693;20023412;20026654;20048340;20065354;20080624;20094034;20103595;20123963;20160076;20170971;20171797;20177397;20177704;20232390;20305132;20354815;20396981;20453000;20496165;20513533;20544271;20550933;9925639;23251624;17244605;20668194;20869334;21157431;20124459;20427287;20932475;20932476;20966255;20864035;21095582;20471956;20338046;20933509;21108427;21186350;18480432;20647759;20676049;21187516;16678111;18710941;20801936;21156285;19714462;19913121;20516478;20552631;20605201;20610542;20628086;20644561;20665102;20729006;20799949;20810650;20816691;20709753;17875758;20599567;16872911;19557330;20448412;20663147;20731661;20826828;21050672;21058196;20301790;21034966;22529920;22537351;22585167;22854598;21048951;21204616;10531300;21102523;21149446;21245467;21127042;20368801;21224259;21361779;22893124;23055520;22675167;22730303;23438602;21263216;19586936;20077038;21219611;21298066;21487018;21502314;21127011;21504893;21383020;21747934;21445571;21665257;21706325;21824286;18006705;20019063;20534441;21573174;10744722;21070773;22909323;22951905;20798688;21606198;21518729;23230272;23440242;22179422;22707287;21460853;21460856;21637298;20372057;21322649;21792198;21643982;22065599;12549820;18514189;18577246;19050264;19164952;19177012;19275579;19275588;20005840;20012529;21519849;21874023;21934670;22213803;22505724;22976441;20581453;21596788;21937706;19850743;20360068;21532626;21669554;21778326;21791604;21908846;21980462;22093823;22374981;22406215;22438227;22493284;22586326;22485171;19783983;21849032;21935375;21937043;21965147;22006793;22096476;22094875;22229509;21858080;23185347;23239948;23486281;22952040;23642045;22453082;22453232;22250480;21139048;21878502;21890473;21924579;21955805;22159035;21910157;22030623;22123827;22369572;22842784;16452482;19023333;22184063;22677372;22751958;22808196;20064447;23163762;23703321;16122426;22126766;23091097;23333640;15174051;16122425;18583959;23405218;22420423;23154078;23272087;23555296;23708966;23465063;21850541;23142947;23468639;22759405;23343766;23847781;23246256;23578831;22923499;22323184;22576881;22941977;23176708;23525106 472 E9PIN0;E9PIQ5;E9PRG7;H0YCK8;H0YCZ1;H0YDU7;H0YEC6;M0QXY8;Q13315 AB209133;ABBA01039868;AF035328;AK299843;AMYH01004021;AP001925;AP005718;AY220758;BC007023;BC022307;BC061584;BC137169;BC152385;BC152389;BT006764;CH471065;CR749436;HM437232;NG_009830;NM_000051;U26455;U33841;U55757;U67092;U67093;U82828;X91196;Y08455 AAA86520;AAB38309;AAB38310;AAB65827;AAC50289;AAC51298;AAH61584;AAI37170;AAI52386;AAI52390;AAM09295;AAO26044;AAP35410;ADN43064;BAD92370;BAG61705;CAA62603;CAA69711;CAH18274;EAW67108;EAW67109;EAW67110;EAW67111;EAW67112;EAW67113;EAW67114;EAW67115;NP_000042;Q13315 Hs.367437 1652464;1697484;1710408;1712204;1724047;1734066;1737751;1789282;1789284;1789729;1789731;1789733;1789735;1789737;1789739;1789741;1789743;1789745;1789747;1789749;1789751;1789753;1789755;1789757;1789759;1789761;1789763;1789765;1789767;1789769;1789771;1789773;1789775;1789777;1789779;1789781;1789783;1789785;1789787;1789789;1789791;1789793;1789795;1789797;1789799;1789801;1789803;1792164;1797304;2185380;2185536;2185814;2190229;2190231;2190233;2190235;2190237;2190239;2190241;2190243;2190245;2190247;2190249;2190251;2190253;2190255;2190257;2190259;2190261;2190263;2190265;2190267;2190269;2190271;2190273;2190275;2190277;2190279;2190281;2190283;2190285;5015619;5015861;5015869;5015879;5015961;5016596;5020881;5020946;5022200;5022322;5022578;5022651;5024413;5037552;7185938 ATM_2409;ATM_EXON49;ATM_EXON63;ATM_exon1a;ATM_exon1b1;ATM_exon25;ATM_exon26;ATM_exon28;ATM_exon3;ATM_exon30;ATM_exon32;ATM_exon33;ATM_exon36;ATM_exon37;ATM_exon38;ATM_exon41;ATM_exon44;ATM_exon50;ATM_exon52;ATM_exon53;ATM_exon61;ATM_exon65F;ATM_exon65a;ATM_exon65b;ATM_exon65c;ATM_exon65e;ATM_exon65g;ATM_exons23and24;ATM_x9;D10S16;D11S2179;D11S2560;D11S2921;D11S3114;D11S3347;D15S1477;D1S1423;D8S2279;G54153;G67874;G67879;GDB:313261;GDB:314949;GDB:631802;L17709;L17877;L17971;L18426;PMC137935P1;PMC311160P1;RH102244;RH119034;RH17960;RH36405;SHGC-35479;SHGC-82486;STS-AA016254;csnpatm-pcr1-1;csnpatm-pcr10-1;csnpatm-pcr11-1;csnpatm-pcr15-1;csnpatm-pcr17-1;csnpatm-pcr18-1;csnpatm-pcr19-1;csnpatm-pcr20-1;csnpatm-pcr21-1;csnpatm-pcr22-1;csnpatm-pcr23-1;csnpatm-pcr24-1;csnpatm-pcr25-1;csnpatm-pcr27-1;csnpatm-pcr28-1;csnpatm-pcr29-1;csnpatm-pcr3-1;csnpatm-pcr30-1;csnpatm-pcr31-1;csnpatm-pcr33-1;csnpatm-pcr35-1;csnpatm-pcr38-1;csnpatm-pcr39-1;csnpatm-pcr4-1;csnpatm-pcr40-1;csnpatm-pcr42-1;csnpatm-pcr43-1;csnpatm-pcr45-1;csnpatm-pcr46-1;csnpatm-pcr47-1;csnpatm-pcr48-1;csnpatm-pcr50-1;csnpatm-pcr55-1;csnpatm-pcr56-1;csnpatm-pcr6-1;csnpatm-pcr64-1;csnpatm-pcr7-1;csnpatm-pcr8-1 AT1;ATA;ATC;ATD;ATDC;ATE;DKFZp781A0353;MGC74674;TEL1;TELO1 A-T mutated;AT mutated;OTTHUMP00000232981;TEL1, telomere maintenance 1, homolog;ataxia telangiectasia mutated (includes complementation groups A, C and D);human phosphatidylinositol 3-kinase homolog;serine-protein kinase ATM APPROVED protein-coding ENSG00000149311 795 06347 114480;208900;607585 REVIEWED 6481163 ATP11A-AS1 ATP11A antisense RNA 1 100874205 AL356752 APPROVED miscrna 40645 1312698 ATOH7 atonal homolog 7 (Drosophila) This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011] 10 10 10 q21.3 63264910 63266384 - 69660387 69661861 - 69990352 69991870 - 1580863;6480464 21697133;14516699;12617822;12477932;11889557;22068589;20395239;20548946;21307088;22645276;21441919;21427129;23568457;16368877;22019371;22222511 220202 F1T0H4;Q8N100 AB593108;AB593109;ABBA01019557;AC016395;AF418922;AMYH01002800;BC032621;BK000277;BY797167;CH471083;H05728;NG_031934;NM_145178 AAH32621;AAL11911;ABM82115;ABM85298;BAJ84048;BAJ84049;DAA01057;EAW54269;NP_660161;Q8N100 Hs.175396;Hs.737072 Math5;bHLHa13 OTTHUMP00000019697;class A basic helix-loop-helix protein 13;hATH5;helix-loop-helix protein hATH-5;protein atonal homolog 7 APPROVED protein-coding ENSG00000179774 13907 09812 609875 REVIEWED 1345428 ATP10B ATPase, class V, type 10B 5 5 5 q34 156022604 156311791 - 159922705 160211797 - 159990127 160279219 - 1580863;6480464 11015572;9872452;15372022;14702039;12477932 23120 O94823;Q2YDW8 AB018258;ABBA01044214;ABBA01044215;ABBA01044216;ABBA01044217;AC008388;AC008456;AC011363;AC091928;AK024894;AK025130;AK025290;AK025294;AK090832;AK295081;AMYH01015761;AMYH01015762;AMYH01015763;BC018773;BC108322;NM_025153 AAI08323;AAI67815;BAA34435;BAB15074;BAC03528;BAG58123;NP_079429;O94823 Hs.109358 1338700;1646098;1675684;1700266;1739333;1780828;1781020;1785490;1848792;2163199 D5S1818E;D5S2693;D5S529;G16945;RH103750;RH91270;SHGC-153296;WI-22551;bac52337S;bac5784T ATPVB;FLJ21477;KIAA0715 OTTHUMP00000224263;probable phospholipid-transporting ATPase VB protein-coding ENSG00000118322 13543 08637 VALIDATED 1314601 ATP10A ATPase, class V, type 10A The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] 15 15 q11.2 23474952 23659442 - 25923859 26108349 - 1580863;6480464 15489334;11353404;19086053;18726118;18186074;12477932;12105293;11326269;11015572;10482951;9628581;22610502;20609483;19851296;20198315;20379614;15071553;15919184;21209057;21901158 57194 G3V261;H0YJI4;O60312;Q4G0S9 AB011138;AB051358;ABBA01048696;ABBA01048697;ABBA01048698;ABBA01048699;ABBA01048700;AC016266;AC023449;AC109512;AMYH01006485;AMYH01006486;AY029487;AY029504;BC038712;BC052251;CH471151;NG_009282;NM_024490 AAH38712;AAH52251;AAK33100;ACE86498;ACE87179;BAA25492;BAB47392;EAW57647;EAW57648;EAW57649;EAW57650;NP_077816;O60312 Hs.659258 1342107;1704818;1709266;1762161;1769934;2149716 D15S986;SHGC-146053;SHGC-6183;SHGC-79879;SHGC-85824;STS-N35112 ATP10C;ATPVA;ATPVC;KIAA0566 ATPase type IV, phospholipid transporting (P-type);ATPase, Class V, type 10C;OTTHUMP00000246731;aminophospholipid translocase VA;phospholipid-transporting ATPase VA;probable phospholipid-transporting ATPase VA APPROVED protein-coding 13542 05790 605855 REVIEWED 737338 ATOX1 antioxidant 1 copper chaperone This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008] 5 5 q32 151102576 151118403 - 151122383 151138210 - 1580863;6480464 22574136;12029094;10497213;9430722;15670166;19146392;18685091;18558714;18416466;18245776;17881304;17616150;17545667;16571664;16172131;15761197;15489334;15476398;15146197;14709553;14702039;12763797;12686548;12679332;12594858;12477932;12420134;10982193;10966647;10557326;9083055;22677543;15133031;19453293;21258123;21482801;23000965;23169585;21139048;21890473;21906983;12968035;16573520;17919502;22648419 475 E5RGN3;E5RIM7;O00244 ABBA01026261;ABBA01026262;AC011374;AC091982;AK091843;AK293063;AMYH01015713;AY165037;AY986502;BC112248;BC112250;BI599233;BT009786;BU172675;CH471062;CN280769;CR456901;NM_004045 AAI12249;AAI12251;AAN84554;AAP88788;AAX81411;ADR82784;BAF85752;CAG33182;EAW61663;EAW61664;NP_004036;O00244 Hs.125213 1660691;1697224;1780978;1792390;1792392;1792394;2140111;2179422 PMC150598P1;PMC150598P2;PMC150598P3;RH102104;RH16152;RH46133;WI-18405;bac5571S ATX1;HAH1;MGC138453;MGC138455 ATX1 antioxidant protein 1 homolog;OTTHUMP00000224114;OTTHUMP00000224178;atx1 (antioxidant protein 1) homolog 1 (yeast);copper transport protein ATOX1;metal transport protein ATX1 APPROVED protein-coding ENSG00000177556 798 03779 602270 REVIEWED 1316047 ATP10D ATPase, class V, type 10D 4 4 4 p12 47936627 48044747 + 47182167 47290260 + 47487410 47595503 + 1580863;6480464 12532265;14702039;12477932;10819331;19798445;20379614;20877624;15071553;15919184;22359512;21890473 57205 H0Y8M7;Q6PEW3;Q9P241 AB040920;ABBA01014336;ABBA01014337;AC092597;AC107398;AJ441078;AK027598;AK074930;AMYH01014159;BC057839;BC131535;CH471069;NM_020453 AAH57839;AAI31536;BAA96011;BAB55221;BAC11299;CAD29577;EAW93036;EAW93037;NP_065186;Q9P241 Hs.437241 1645091;1687654;1720513;1759965;1760439;1760815;2218266 ATP10D_4041;D4S2808;G59210;RH93851;SHGC-111174;SHGC-142693;SHGC-144419 ATPVD;KIAA1487 OTTHUMP00000125285;probable phospholipid-transporting ATPase VD;type IV aminophospholipid transporting ATPase protein-coding ENSG00000145246 13549 16518 VALIDATED 1351598 ATP11C ATPase, class VI, type 11C X X X q27.1 139175990 139281918 - 138636171 138742113 - 138808505 138914447 - 1580863;6480464 15772651;15533723;14702039;12477932;11015572;10737800;8034313;15071553;15919184;16344560;21906983 286410 H7C0E8;H7C113;Q6ZUP7 AA829385;ABBA01066060;ABBA01066061;ABBA01066062;ABBA01066063;ABBA01066064;ABBA01066065;ABBA01066066;ABBA01066067;ABBA01066068;ABBA01066069;ABBA01066070;ABBA01066071;AJ580093;AJ580094;AK091552;AK093835;AK125474;AK125476;AK125986;AK131262;AL161777;AL356785;AMYH01023059;BC132728;BC132730;BX648320;BX648981;CH471150;D16467;DB348089;NG_016550;NM_001010986;NM_173694 AAI72372;BAC03692;BAC86172;BAC86377;BAD18440;CAE30472;CAE30473;EAW88424;EAW88425;NP_001010986;NP_775965;Q8NB49 Hs.88252 1700962;1702680;1702794;1708652;1781132;2218268 ATP11C_4391;RH104108;SHGC-85130;UniSTS:99496;sWXD1509;stdJ41P24T7 ATPIG;ATPIQ OTTHUMP00000024161;OTTHUMP00000215065;OTTHUMP00000215081;phospholipid-transporting ATPase IG;probable phospholipid-transporting ATPase IG protein-coding ENSG00000101974 13554 09814 300516 VALIDATED 1348822 ATP11B ATPase, class VI, type 11B P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005] 3 3 3 q27 180945823 181073871 + 183993985 184122117 + 182511291 182639423 + 1580863;6480464 11790799;11015572;16641997;15489334;14702039;12477932;10737800;10231032;15071553;15919184;21139048;21914794;23000965;23585472 23200 B4DKX1;B4E3T1;H0Y854;H0Y8C7;H7C4E6;H7C4W6;H7C575;Q9Y2G3 AB023173;ABBA01058490;ABBA01058491;AC069431;AC092953;AF156548;AK093727;AK296750;AK304855;AL133061;AMYH01013701;AMYH01013702;BC010630;BC033880;BC042180;BF372979;BI861412;BU431705;BX489704;BX537779;CH471052;DR000074;NM_014616 AAF09446;AAH10630;AAH33880;AAH42180;AAI48559;BAA76800;BAG52754;BAG59333;BAG65593;CAB61385;CAD97838;EAW78344;EAW78345;EAW78346;EAW78347;NP_055431;Q9Y2G3 Hs.478429 1646988;1647529;1697536;1697626;1852319;2131740;2151861 D3S4308;RH102274;RH102325;SHGC-14974;SHGC-36677;SHGC-53491;SHGC-77585 ATPIF;ATPIR;DKFZp434J238;DKFZp434N1615;KIAA0956;MGC46576 ATPase IR;OTTHUMP00000212751;OTTHUMP00000212753;probable phospholipid-transporting ATPase IF APPROVED protein-coding ENSG00000058063 13553 10432 605869 VALIDATED 1318606 ATP11A ATPase, class VI, type 11A The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q34 94169962 94366346 + 112392644 112589483 + 113344643 113541482 + 1580863;6480464 15533723;15057823;14702039;12477932;11015572;10470851;20043114;20379614;20858683;21139048;21890473;21906983 23250 A2A3G9;E9PEJ6;H0Y547;H0Y624;H0Y8F0;P98196;Q659C3;Q6PJ25 AB028944;ABBA01019851;ABBA01019852;ABBA01019853;AI703438;AK024264;AK025511;AK091253;AK128241;AL139384;AL161996;AL162711;AL356740;AL356752;AMYH01005388;AMYH01005389;AMYH01005390;AMYH01005391;BC008824;BC024154;BC035215;BC044649;BE675783;CH471085;NM_015205;NM_032189 AAH24154;AAI67794;BAA82973;BAB15157;CAH56364;EAX09171;NP_056020;NP_115565;P98196 Hs.29189 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tSG621758;stSG621759;stSG621760;stSG621761;stSG621762;stSG621764;stSG621765;stSG621766;stSG621769;stSG621770;stSG621771;stSG621772;stSG621773;stSG621774;stSG621775;stSG621776;stSG621777;stSG621778;stSG621779;stSG621780;stSG621781;stSG621785;stSG621786;stSG621787;stSG621788;stSG621789;stSG621792;stSG621793;stSG621794;stSG621795;stSG621796;stSG621797;stSG621798;stSG621799;stSG621800;stSG621801 ATPIH;ATPIS OTTHUMP00000018729;OTTHUMP00000062144;phospholipid-translocating ATPase;potential phospholipid-transporting ATPase IH;probable phospholipid-transporting ATPase IH APPROVED protein-coding ENSG00000068650 13552 12059 605868 REVIEWED 6481170 ATP13A4-AS1 ATP13A4 antisense RNA 1 100874215 AC048351 APPROVED miscrna 41095 6481175 ATP13A5-AS1 ATP13A5 antisense RNA 1 100874218 AC105057 APPROVED miscrna 41281 1343803 ATP13A5 ATPase type 13A5 3 3 3 q29 191408105 191511656 - 194475525 194579208 - 192992831 193096514 - 6480464 15925480;12975309 344905 C9JPQ4;Q4VNC0 ABBA01058289;ABBA01058290;ABBA01058291;AC105057;AK122613;AMYH01013771;AY358667;AY823163;BC033334;CH471052;NM_198505 AAI56653;AAQ89030;AAX24103;BAC85490;EAW78076;EAW78077;NP_940907;Q4VNC0 Hs.658032 1336972;1684212;1746979;1766725;1794772;2128638 D3S2480;D3S3590;G64904;PMC55343P6;RH93717;SHGC-149999 FLJ16025 OTTHUMP00000209190;P5-ATPase;probable cation-transporting ATPase 13A5 protein-coding ENSG00000187527 31789 18597 PROVISIONAL 1346317 ATP13A4 ATPase type 13A4 3 3 3 q29 191535006 191687743 - 194602560 194755390 - 193119866 193272696 - 1580863;6480464 15925480;14702039;12975309;12477932 84239 B3KU47;B7WPN9;F8W9W3;H0Y4Z2;H7C1P5;Q4VNC1 ABBA01058288;ABBA01058289;AC048351;AC092942;AC105057;AK095277;AK096510;AL512736;AMYH01013771;AY358110;AY823162;BC101496;BC143604;CH471052;NM_032279 AAI01497;AAQ88477;AAX24102;BAC04520;BAG53309;CAC21667;EAW78073;EAW78074;EAW78075;NP_115655;Q4VNC1 Hs.674423 DKFZp761I1011;MGC126545 OTTHUMP00000082701;OTTHUMP00000159149;P5-ATPase;cation-transporting P5-ATPase;probable cation-transporting ATPase 13A4 protein-coding ENSG00000127249 25422 12502 609556 VALIDATED 1353842 ATP13A3 ATPase type 13A3 ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008] 3 3 3 q29 192538810 192604327 - 195604692 195670257 - 194123403 194188968 - 1580863;5509063;6480464 21793738 17081983;16641997;16344560;16303743;15342556;14702039;12477932;11867234;8175911;8125298;19913121;20628086;21139048;21906983;22505724 79572 C9J7Z7;C9JAP7;H7C1U7;Q9H7F0 ABBA01001627;ABBA01001628;AC108676;AC125362;AJ306929;AK024639;AK075094;AK225064;AMYH01013780;BC037805;BC106085;BP313821;BX641098;DA852339;DR005713;DR423199;DV080200;NM_024524;Z24724 AAI66610;BAB14942;BAC11398;CAC84902;NP_078800;Q9H7F0 Hs.529609 1660951;1667394;1675736;1695348;1850916;2153394;2172863;2173361 G29192;RH78493;RH93590;SHGC-37559;SHGC-64151;SHGC-64859;SHGC-77686;STS-H48097 AFURS1;DKFZp686K16189;FLJ90613 ATPase family homolog up-regulated in senescence cells 1;OTTHUMP00000209099;probable cation-transporting ATPase 13A3 APPROVED protein-coding ENSG00000133657 24113 10636 610232 VALIDATED 1342911 ATP13A2 ATPase type 13A2 This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] 1 1 p36 17185040 17210854 - 17312453 17338423 - 1580863;6480464;7240710 19224617;19097176;19085912;19015489;18785233;18413573;17485642;16964263;16710414;15489334;15381061;12477932;11584046;23205587;20853184;20816920;20669327;21060012;20310007;19705361;19806583;20036179;20137506;20189936;20227461;20483373;22743658;20976737;20842691;23284715;21362476;22285144;21094623;21665991;21900206;21724849;21542062;21714071;22457822;22490479;21139048;21890473;21906983;22442086;22647602;20301402;22186024;22296644;22104014;22388936;21696388;23499937;23121889;22847264;23000965;23196729;22117566;22645275;22768177 23400 H0Y8I1;H0Y8V5;H0Y8Z6;H0Y953;H0Y9K0;H0Y9K4;H0YAI7;Q9NQ11 ABBA01000262;AJ009947;AK025928;AK075310;AK290210;AL049569;AL354615;AL833966;AMYH01000294;AMYH01000295;AY461712;AY987009;BC030267;BC034575;CH471134;NG_009054;NM_001141973;NM_001141974;NM_022089 AAH30267;AAH34575;AAR23423;AAX88804;BAC11539;BAF82899;CAA08912;CAB89728;CAD38813;EAW94824;EAW94825;EAW94826;EAW94827;NP_001135445;NP_001135446;NP_071372;Q9NQ11 Hs.128866 1335476;1338577;1339307;1341324;1745757;2121681;2152546 D1S1592;D1S199;D1S2644;D1S2826;D1S3017;GDB:636056;UniSTS:28191 CLN12;FLJ26510;HSA9947;KRPPD;PARK9;RP1-37C10.4 OTTHUMP00000002399;OTTHUMP00000002400;OTTHUMP00000221711;probable cation-transporting ATPase 13A2;putative ATPase APPROVED protein-coding ENSG00000159363 30213 13677 606693;610513 REVIEWED 734042 ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 13 13 q12.12 24152695 24183918 + 25254549 25285923 + 704409;1580863;704405;1300048;6480464;6907045 11125071 8838794;16344560;15135233;15086469;12477932;12230809;12110518;11880279;9872395;8889548;8045293;3036582;3035563;2842249;1847115;19487957;19694409;20379614;15071553;17342744;22505724;22179016;21139048;21906983;22118674;21890473;21963094;21988832;22053931;23000965;23251661 479 B4E0R9;P54707 ABBA01007894;AK292968;AK303498;AL157364;AMYH01004976;BC031609;CA450333;CH471075;DB216724;DB232979;L42558;L42559;L42560;L42561;L42562;L42563;L42565;L42566;L42567;L42568;L42569;M16797;M27574;NM_001185085;NM_001676;U02076;X69823;X69824 AAA35576;AAA51802;AAB37755;AAC37589;AAH31609;ADZ15516;BAF85657;BAG64531;CAA49477;CAA49478;EAX08343;EAX08344;EAX08345;EAX08346;NP_001172014;NP_001667;P54707 Hs.147111 1339746;1737431;2135099 D13S742;D13S999;SHGC-12920 ATP1AL1 ATPase, Na+/K+ transporting, alpha polypeptide-like 1;ATPase, Na+K+ transporting, alpha-1 polypeptide-like;OTTHUMP00000018132;non-gastric H(+)/K(+) ATPase alpha subunit;non-gastric H(+)/K(+) ATPase subunit alpha;potassium-transporting ATPase alpha chain 2;proton pump;sodium/potassium ATPase, alpha polypeptide-like 1643387 BW328_H APPROVED protein-coding ENSG00000075673 13816 01667 182360 REVIEWED 1603000 ATP1A1OS ATP1A1 opposite strand 1 1 1 p13.1 115164113 115189870 - 116947336 116961205 - 116935487 116961244 - 6480464 12477932 84852 Q5TC04 ABBA01068487;AK309389;AK309872;AL136376;AMYH01000969;BC007373;BC018892;BC028281;BC069003;BC098428;BX389823;DC351073;NR_024124;NR_024125;NR_024126;NR_027645;NR_027646 Q5TC04 Hs.664752 1850718;2121808;2179949;2217046 A001Z44;AL009430;ATP1A1_2746;RH17421 C1orf203;MGC16179 APPROVED miscrna ENSG00000203865 28262 PREDICTED 1352922 ATP1B1P1 ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1 4 4 4 p13 42476543 42478723 + 41725983 41728033 + 42031102 42033282 + 2842249;2559024 485 ABBA01014279;ABBA01014280;AC113151;AMYH01014133;M25159;NG_001081 1744333;1852233 GDB:451712;SHGC4-259 ATP1BL1 APPROVED pseudo 809 INFERRED 1346886 ATP13A1 ATPase type 13A1 19 19 19 p13.11 19660082 19678574 - 19617009 19633925 - 19756007 19774503 - 6480464 17081983;16344560;16335952;15489334;14702039;12477932;11347906;19913121;20628086;21139048;21890473;21906983;21963094;22505724 57130 H7C3H2;Q9HD20 AB058728;ABBA01051338;AC011458;AF288687;AK026044;AK056420;AK074159;AK074798;AK074920;AK095287;AK123780;AK125861;AK130125;AK172778;AL834180;AMYH01009610;BC009302;BC069211;CH471106;DA103408;NM_020410 AAG01173;AAH09302;AAH69211;AAI56251;BAB15334;BAB47454;BAB84985;BAC11294;BAC85690;BAC86325;BAD18759;BAG51704;BAG53019;CAD38877;EAW84847;EAW84848;EAW84849;EAW84850;EAW84851;EAW84852;EAW84853;EAW84854;NP_065143;Q9HD20 Hs.501794 1686788 RH98505 ATP13A;CGI-152;DKFZp761L1623;FLJ31858;FLJ41786;FLJ43873;FLJ90317;KIAA1825 OTTHUMP00000202891;OTTHUMP00000202892;cation transporting ATPase;probable cation-transporting ATPase 13A1 protein-coding ENSG00000105726 24215 12501 VALIDATED 735332 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 1 1 p21 116717359 116748919 + 116915795 116947396 + 1579863;1580863;1579862;6480464;6907045 14993422;8082931 11027149;15671290;1975705;19109419;19058785;18801933;18769045;18768923;18348163;18094063;17881356;17446437;17446412;17176442;17081065;16893516;16723354;16710414;16708288;16498080;16430714;16243970;16230337;15515123;15489334;15383549;15069082;14759258;14685860;14597563;14555664;14522987;12788896;12671055;12477932;12461183;12093728;12031509;11926353;11887161;11832419;11564973;11509477;11404365;11139403;10516168;10473631;9481617;9159180;8918259;8833915;8391840;7775468;7711835;7536695;3036582;3035563;3030810;2891135;2887455;2842249;20473970;22586326;2158121;1970326;19019082;16169070;2430951;16730713;16799092;17220478;19638348;19751721;19863947;19865785;20065300;20332111;15071553;19913121;20450619;20628086;20427472;21043236;20964587;21498719;21449573;21163940;21141520;11901144;23048038;23106098;23349050;16196087;16027165;22053931;22505724;22797925;19243476;21081666;22678362;23416519;20305087;18781797;21139048;21890473;21906983;21987572;21145461;21319273;22269832;22565168;19805454;21565611;21963094;22304920;22797923;23000965 476 Q5TC01;Q5TC02;Q5TC05;Q9UJ20 ABBA01068487;AK293689;AK295095;AK296362;AK296384;AK308418;AK314777;AL136376;AL531892;AMYH01000969;AY642124;AY946013;BC001330;BC003077;BC050359;BF795089;CH471122;DC335233;J03007;L76938;M16793;M16794;M27572;M27579;M30310;NM_000701;NM_001160233;NM_001160234;U16798 AAA35573;AAA35574;AAA51801;AAA51803;AAA92713;AAC50131;AAD56251;AAD56252;AAH01330;AAH03077;AAH50359;AAX55908;ABM82808;ABW03450;BAG37313;BAH11571;BAH11971;BAH12332;BAH12337;EAW56644;EAW56645;EAW56646;EAW56647;EAW56648;NP_000692;NP_001153705;NP_001153706;P05023 Hs.371889 1665482;1735892;1740783;1850718;2140790;2179949;2217046;5037552 A001Z44;AL009633;ATP1A1_2746;D1S1924E;D1S3311;D8S2279;RH17421;SHGC-75376 MGC3285;MGC51750 Na(+)/K(+) ATPase alpha-1 subunit;Na+, K+ ATPase alpha subunit;Na+/K+ ATPase 1;Na, K-ATPase, alpha-A catalytic polypeptide;Na,K-ATPase alpha-1 subunit;Na,K-ATPase catalytic subunit alpha-A protein;OTTHUMP00000013935;sodium pump 1;sodium pump subunit alpha-1;sodium-potassium ATPase catalytic subunit alpha-1;sodium-potassium-ATPase, alpha 1 polypeptide;sodium/potassium-transporting ATPase subunit alpha-1 APPROVED protein-coding ENSG00000163399 799 01662 182310 REVIEWED 6481283 ATP1B3-AS1 ATP1B3 antisense RNA 1 100874077 AC112504 APPROVED miscrna 40088 1348014 ATP1B3P1 ATPase, Na+/K+ transporting, beta 3 pseudogene 2 2 2 p16.1 60805127 60806664 - 60814700 60816713 - 60961525 60963062 - 9457675 484 ABBA01075337;AC012498;AF005898;AMYH01010379;NG_000849 AAB61675 1681616;1688931;1776229;2161471;5092612 G32213;RH12662;RH66571;RH66869;SHGC-16162 pseudo 807 INFERRED 733097 ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q23.2 158387976 158423391 + 160121352 160156767 + 1580863;6480464;6907045 7809153;12112599;16894555;16710414;16344560;16175638;15489334;14702039;12763850;12477932;12119109;10764792;10227850;3036582;3035563;2887455;2158121;1981991;15071553;22505724;21906983;21145461 480 E9PRA5;Q13733 ABBA01016614;ABBA01016615;ABBA01016616;ABBA01016617;AF310646;AF352828;AF390027;AF421887;AF430843;AF459737;AF506797;AK098076;AK308286;AL121987;AL833335;AMYH01001451;AY039031;BC028297;BC036052;BC068570;BC094801;BX647234;CH471121;DB094047;M16796;NM_001001734;NM_144699 AAA51800;AAH28297;AAH94801;AAK72396;AAL35818;AAL66357;AAM20793;AAQ07964;BAC05228;EAW52737;EAW52738;NP_001001734;NP_653300;Q13733 Hs.662219 1687730;2110269 ATP1A4_8220;RH94243 ATP1A1;ATP1AL2;MGC25056 ATPase, Na+/K+ transporting, alpha polypeptide-like 2;Na(+)/K(+) ATPase alpha-4 subunit;Na+/K+ ATPase 4;Na+/K+ ATPase, alpha-D polypeptide;Na,K-ATPase subunit alpha-C;OTTHUMP00000029890;OTTHUMP00000231443;sodium pump 4;sodium pump subunit alpha-4;sodium-potassium ATPase catalytic subunit alpha-4;sodium/potassium-transporting ATPase alpha-4 chain;sodium/potassium-transporting ATPase subunit alpha-4 APPROVED protein-coding ENSG00000132681 14073 09541 607321 REVIEWED 735774 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010] 1 1 q24 167342571 167368584 + 169075947 169101960 + 1580863;6480464;6907045;7240710 2559024;19305409;19064610;18727914;17947299;16710414;16696853;16478973;16430714;16339171;16230337;15606899;15489334;15086469;14597563;12754519;12477932;12093728;7536695;7499094;3008098;2887455;2842249;2555225;2538450;11534180;11193188;2158121;1301170;16169070;19322201;19664334;20926452;12558975;16799092;18522992;19322565;19536175;19542013;19563793;19694409;20065300;20453000;21963094;23009595;15851553;15071553;19913121;20628086;16341674;21085665;21104370;19619434;21141520;23048038;21449573;21642423;22990118;20458337;21771789;21881522;21900206;23022198;22433860;21139048;19664597;23166209 481 A3KLL5;A6NGH2;B7Z9S8;P05026 AA507932;AA514770;ABBA01027954;ABBA01027955;AK290181;AK296059;AK316043;AL031726;AMYH01001488;AY545986;AY946016;BC000006;BE223067;BG702024;BM762099;BQ934151;BT009787;CD106723;CD722755;CH471067;CR407616;HI573972;M25160;NG_023230;NM_001677;U16799;X17161 AAA36352;AAC50132;AAH00006;AAP88789;AAT11781;AAX55911;BAF82870;BAG58822;BAH14414;CAA35040;CAG28544;CBX47475;EAW90832;EAW90833;NP_001668;P05026 Hs.291196 1652972;1664048;1742191;1744333;1769899;1847832;5017566;5491441 ATP1B1;GDB:193196;GDB:451712;MARC_12181-12182:1004710927:1;SHGC-75866;SHGC-75869;SHGC-75881;WI-14725 ATP1B;MGC1798 Beta 1-subunit of Na(+),K(+)-ATPase;Na, K-ATPase beta-1 polypeptide;OTTHUMP00000032537;OTTHUMP00000032538;adenosinetriphosphatase;atpase na+/k+ transporting beta 1 polypeptide;sodium pump subunit beta-1;sodium-potassium ATPase subunit beta 1 (non-catalytic);sodium/potassium-dependent ATPase beta-1 subunit;sodium/potassium-transporting ATPase beta-1 chain;sodium/potassium-transporting ATPase subunit beta-1 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000143153 804 01663 145500;182330 REVIEWED 736008 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008] 1 1 q23.2 158352172 158380005 + 160085520 160113381 + 1580863;1358436;1601253;1601250;1601251;1601252;1601254;6480464;6903342;6903354;6907045;7240710 12953268;11768735;16286513;16243970;14576983;11257061;18424620;15644428 12539047;10642400;19199261;19058785;19007941;18957371;18811707;18728015;18644608;18513263;18498390;18483709;18451712;18294248;18184292;18056581;18052210;18028456;18028407;17952365;17877748;17727731;17473835;17446412;17119788;16538223;16508935;16508934;16437583;16430714;16344560;16344534;16110494;16088919;16037212;16026932;15911117;15569317;21533730;15159495;15133718;14871878;14702039;14690302;14685860;14667076;12805306;12529322;12496141;12477932;11404365;10372716;9872452;9579893;9403481;9159180;8391840;8125298;3036582;3035563;2842249;2537767;2477373;2158121;15174025;15489334;15459825;15383549;15308625;15286158;15210532;19372756;19638348;19751721;19874388;20065300;20100892;20837964;20720542;15071553;19913121;20628086;20952631;21398422;22505724;22433860;20936682;21139048;21890473;21963094;21987572;22053931;22936730;23000965;21906983;22117059;20473970;22013243;20301562;21145461;22565168;22797923;22661290;23241943 477 B1AKY9;H0Y7C1;P50993 AB018321;ABBA01016617;AK091617;AK124581;AK126573;AK295048;AK295729;AK299460;AK308773;AK314296;AL121987;AL831991;AL831997;AMYH01001451;AY946014;BC013680;BC047533;BC052271;CH471121;DA221602;EB386326;J05096;M16795;M27578;NG_008014;NM_000702;Y07494 AAA35575;AAA51797;AAA51799;AAH52271;AAX55909;BAA34498;BAG36951;BAG52393;BAG54055;BAG54347;BAG58098;BAG58570;BAG61427;CAA68793;EAW52739;EAW52740;EAW52741;EAW52742;NP_000693;P50993 Hs.34114 1734480;1736294;1742449;1776972;1797306;1850249;2125014;2177301;5017576;5092630 A005C13;ATP1A2;ATP1A2_1794;D1S1763E;D1S2042E;G32224;GDB:197004;RH69645;SHGC-31641;WI-21610 FHM2;MGC59864;MHP2 Na(+)/K(+) ATPase alpha-2 subunit;Na+/K+ ATPase, alpha-A(+) catalytic polypeptide;Na+/K+ ATPase, alpha-B polypeptide;OTTHUMP00000025754;OTTHUMP00000029880;OTTHUMP00000038365;sodium pump subunit alpha-2;sodium-potassium ATPase;sodium-potassium ATPase catalytic subunit alpha-2;sodium/potassium-transporting ATPase alpha-2 chain;sodium/potassium-transporting ATPase subunit alpha-2 1643514;2289625 BW260_H;BW481_H APPROVED protein-coding ENSG00000018625 800 01665 104290;182340;602481 REVIEWED 732644 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 q13.31 47162574 47190222 - 42470734 42498428 - 1580863;1358437;6480464;6907045;7240710 9646882 15260953;19058785;18957371;18184478;17595045;17516473;17446412;17282997;17244347;16713569;15489334;15462673;14702039;12634653;12477932;10443882;8125298;3036582;3035563;3030810;2907504;2887455;2842249;2838329;2834163;2158121;20576601;19351654;19751721;20065300;15071553;16712791;21072501;20301294;21196491;21498719;21181095;22924536;22505724;21139048;21906983;21890473;21963094;21987572;22053931;23000965;23409136;23455922;23464991;22423096;22850527;22842232 478 M0QXF2;M0R116;P13637;Q53ES0 ABBA01040826;ABBA01040827;ABBA01040828;AC010616;AK054736;AK094628;AK122693;AK223569;AK293784;AK295078;AK295833;AK296557;AK307921;AK316069;AL832884;AMYH01009824;AY946015;BC009282;BC009394;BC013763;BC015566;BX478337;CB156520;CH471126;DB482528;M27577;M28286;M28293;M37457;NG_008015;NM_001256213;NM_001256214;NM_152296;X12910 AAA51798;AAA52285;AAA52286;AAA58380;AAH09282;AAH09394;AAH15566;AAX55910;ADZ15542;BAD97289;BAG51420;BAG52899;BAG53671;BAH11595;BAH11966;BAH12194;BAH12387;BAH14440;CAA31390;EAW57089;NP_001243142;NP_001243143;NP_689509;P13637 Hs.515427 1336425;1338187;1339937;1670845;1742439;2110889;2124404;2217048 ATP1A3_2763;D19S198;D19S265E;D19S587;D19S900;GDB:196994;RH78939;hsatpn22 AHC2;DYT12;MGC13276;RDP Na(+)/K(+) ATPase alpha(III) subunit;Na(+)/K(+) ATPase alpha-3 subunit;Na+/K+ ATPase 3;OTTHUMP00000174455;OTTHUMP00000174456;sodium pump 3;sodium pump subunit alpha-3;sodium-potassium ATPase catalytic subunit alpha-3;sodium-potassium-ATPase, alpha 3 polypeptide;sodium/potassium-transporting ATPase alpha-3 chain;sodium/potassium-transporting ATPase subunit alpha-3 APPROVED protein-coding ENSG00000105409 801 01666 128235;182350;614820 REVIEWED 736555 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. [provided by RefSeq, Jul 2008] 17 17 p13.1 7494979 7501814 + 7554254 7561089 + 1580863;6480464;6907045 11027149;2538450;18676680;17683073;17411440;16865689;16430714;15489334;15294280;12539047;12477932;11193188;10662545;9524271;9159180;8918259;8889548;8305453;7711835;2158121;1699290;1688561;12958655;12558975;19170196;19625176;19692168;20065300;19764716;19371356;15071553;20937802;20656459;21196491;22675492 482 I3L1V9;I3L3J8;P14415 ABBA01054878;AC007421;AF007876;AK290143;AL120033;AL532023;AMYH01008085;AY946017;BC035801;BC126175;BG708115;BM664502;BM703745;BM925700;BQ718053;CD671350;CH471108;D87330;M81181;NM_001678;U45945 AAA51805;AAC39686;AAC50873;AAI26176;AAX55912;ADR82909;BAF82832;EAW90147;EAW90148;NP_001669;P14415 Hs.643540 1850743;2135612;2152420 G15933;RH11458;SGC31498 AMOG Na, K-ATPase beta-2 polypeptide;adhesion molecule on glia;sodium pump subunit beta-2;sodium-potassium ATPase subunit beta 2 (non-catalytic);sodium/potassium-dependent ATPase beta-2 subunit;sodium/potassium-dependent ATPase subunit beta-2;sodium/potassium-transporting ATPase beta-2 chain;sodium/potassium-transporting ATPase subunit beta-2 APPROVED protein-coding ENSG00000129244 805 01664 182331 REVIEWED 733031 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008] 3 3 3 q23 140019481 140069148 + 143078160 143128072 + 141595470 141645382 + 1580863;6480464;6907045 17353931;8798450;17446412;17176442;17081065;15489334;14702039;12754519;12477932;12456588;9457675;6289898;2158121;12558975;20065300;15071553;22990118;23022198;18781797;21139048;21890473;21906983;21987572 483 B7Z1N7;C9J6S2;C9JA36;C9JXZ1;F8WBY4;H7C4L9;H7C547;P54709 ABBA01059039;AC112504;AF005896;AK094673;AK131061;AK293697;AMYH01013545;AMYH01013546;AY946018;BC001469;BC011835;BI462090;CH471052;NM_001679;U51478 AAB61713;AAC50665;AAH11835;AAX55913;BAH11573;EAW78982;EAW78983;EAW78984;EAW78985;EAW78986;EAW78987;EAW78988;EAW78989;NP_001670;P54709 Hs.477789 1671816;1681616;1688931;1714123;1739303;1776229;1797308;2111079;2161471;5015961;5016478;5017227;5017266;5020881;5021872;5037552;5092612;5093834 A009X29;ATP1B3_1858;D15S1477;D3S1501E;D3S3294E;D8S2279;G32213;G32951;G38154;GDB:434012;L17709;L18506;RH119669;RH12662;RH66571;RH66869;SHGC-16162;sY3084 ATPB-3;CD298;FLJ29027 Na, K-ATPase beta-3 polypeptide;OTTHUMP00000214031;sodium pump subunit beta-3;sodium-potassium ATPase subunit beta 3 (non-catalytic);sodium/potassium-dependent ATPase beta-3 subunit;sodium/potassium-dependent ATPase subunit beta-3;sodium/potassium-transporting ATPase beta-3 chain;sodium/potassium-transporting ATPase subunit beta-3 APPROVED protein-coding ENSG00000069849 806 03521 601867 REVIEWED 6481035 ATP2B2-IT1 ATP2B2 intronic transcript 1 (non-protein coding) 100874324 AC018839 miscrna 41309 6481038 ATP2B2-IT2 ATP2B2 intronic transcript 2 (non-protein coding) 100874325 AC018502 miscrna 41310 736275 ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X X q24 119961554 119982718 + 119379995 119400254 + 119495940 119517104 + 631939;1580863;6480464;6907045 10456317 17592128;16430714;16344560;15489334;12477932 23439 B7ZKW0;Q9UN42 AA436959;ABBA01049595;ABBA01049596;ABBA01049597;ABBA01049598;AC006962;AF158383;AF158384;AK309999;AMYH01022918;BC117227;BC143404;BC143406;BC143407;CH471107;DA895576;NG_016773;NM_001142447;NM_012069 AAD49692;AAD49693;AAI17228;AAI43405;AAI43407;AAI43408;ADR83150;EAX11885;EAX11886;NP_001135919;NP_036201;Q9UN42 Hs.292599 1702010;1770317;1773399;5014003;5015861;5022450;5022576;5109281;7185938 AL008940;AL021884;D10S16;D10S275;D17S1136;D1S1361;D1S1425;DXS1320 Na,K-ATPase beta m-subunit;OTTHUMP00000023939;OTTHUMP00000023940;X,K-ATPase beta-m subunit;protein ATP1B4;x/potassium-transporting ATPase subunit beta-m APPROVED protein-coding ENSG00000101892 808 06453 REVIEWED 732893 ATP2A3 ATPase, Ca++ transporting, ubiquitous This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p13.3 3773918 3814485 - 3827163 3867758 - 68726;6480464;6907045;7204695 11208768;19789383 8809064;17353931;17474147;19135027;19100511;18947868;18295663;18068335;16973504;16725111;16410239;16250893;15972967;15489334;15028735;12665801;12540840;12524443;12503734;12477932;12207029;11986315;11956212;9843705;9593748;8288608;22354994;21319273;19225163;19650915;15071553;19962989;22948776;22190034;22505724;21906983 489 A8K9K1;E9PFL6;Q6JHX1 AA643105;ABBA01054751;ABBA01054752;ABBA01054753;AC005940;AF068220;AF068221;AF458228;AF458229;AK292716;AMYH01008033;AY460339;BC035729;CH471108;NG_029041;NM_005173;NM_174953;NM_174954;NM_174955;NM_174956;NM_174957;NM_174958;S68239;Y15724;Y15737;Y15738;Z69880;Z69881 AAB29700;AAC24525;AAC24526;AAH35729;AAL78967;AAL78968;AAR15415;ABM84243;ABW03610;BAF85405;CAA75739;CAA75747;CAA75748;CAA93736;CAA93737;EAW90460;EAW90461;EAW90462;EAW90463;EAW90464;EAW90465;EAW90466;EAW90467;EAW90468;EAW90469;EAW90470;NP_005164;NP_777613;NP_777614;NP_777615;NP_777616;NP_777617;NP_777618;Q93084 Hs.513870 1694502;1736939;1848452;5019587;5092434;5092436 D17S1575;G42991;G54311;G54314;G54315;RH12619 SERCA3 ATPase, Ca(2+)-transporting, ubiquitous;SR Ca(2+)-ATPase 3;adenosine triphosphatase, calcium;calcium pump 3;calcium-translocating P-type ATPase;sarco/endoplasmic reticulum Ca2+ -ATPase;sarco/endoplasmic reticulum Ca2+ ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 3 APPROVED protein-coding ENSG00000074370 813 03568 601929 REVIEWED 736839 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 p25.3 10342744 10466546 - 10365707 10547268 - 1580863;6480464;7204695;7240710 19789383 22349217;1313367;11259493;15829536;15765049;19379709;19299509;19043545;17488275;17234811;16216224;15926914;15101689;12784250;12763866;12624087;12477932;12107410;11786550;11274188;11152753;9697703;9668038;8634322;8428366;8245032;8187550;8162598;7989379;1827443;1427863;19850283;20379614;7929331;20211863;20663896;15071553;19913121;20628086;20971118;21672522;21757185;21906983;22047666;20301607;15123239;21890473;21963094;21987572;23000965;22053931 491 H0Y7S3;Q01814;Q4J699;Q4LE63 AA197323;AB210008;ABBA01020379;ABBA01025233;ABBA01025234;AC018839;AC022384;AC090841;AK308898;AL134596;AMYH01012969;BC019853;BC128575;BX489007;CA391502;CH471055;CK023951;DQ201777;DQ201778;FB292361;L00620;L20977;M97260;NG_012046;NM_001001331;NM_001683;R53305;S95738;S95743;S95758;U15688;X63575 AAA08376;AAA08377;AAA08378;AAA36456;AAA50877;AAA51893;AAA60985;ABG24241;ABG24242;BAE06090;CAA45131;CAP58599;EAW64079;EAW64080;EAW64081;EAW64082;EAW64083;EAW64084;NP_001001331;NP_001674;Q01814 Hs.268942 1666180;1694828;1726641;1727985;1730089;1730483;1735282;1848089;2114459;2139174;2140731;2144337;2153141;2157536;2218728 ATP2B2_4222;D3S1038;D3S2930E;D3S3381;D3S3903;D3S3990;D3S601;G10673;G43664;G62555;G63412;IB1403;NIB487;SHGC-76702;SHGC-76732 PMCA2;PMCA2a;PMCA2i OTTHUMP00000158863;OTTHUMP00000178534;OTTHUMP00000178535;OTTHUMP00000178537;OTTHUMP00000222615;plasma membrane Ca(2+)-ATPase;plasma membrane Ca2+ pump 2;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 2 APPROVED protein-coding ENSG00000157087 815 00160 108733;601386 REVIEWED 1353349 ATP3 ATPase, Mg++ transporting 494 818 731640 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 p12.1 28797310 28823331 + 28889809 28915830 + 734618;6480464;6907045;7204695;7240710 8841193;19789383 9405806;8729696;9295312;12479237;19079260;19061639;18953100;18947188;17728322;17010426;16933204;16754798;16642550;16410239;16192278;15972723;15767202;15718407;14702039;14638697;12975374;12692302;12525698;12477932;11526231;11438520;10914677;10551848;9642673;9575189;9367679;8889548;8825625;2936465;2842876;1746562;12032137;21145461;11402072;1329967;19644701;8040329;15071553;21576492;22939629;22505724;17110338;21890473;21963094;22609207;21726808;21906983 487 B3KY17;H3BTF1;H3BTW4;H3BUT9;H3BUU3;H3BVB2;O14983;Q7Z675 ABBA01045684;ABBA01045685;AC109460;AC133550;AK092691;AK128456;AK291314;AMYH01007478;BC037354;BC104452;BC104453;BU737186;BX537389;BX537784;BX647365;BX647366;BX647367;BX647368;BX648544;BX649072;CH471267;HB975088;HD032498;NG_023327;NM_004320;NM_173201;U96773;U96781 AAB53112;AAB53113;AAH37354;AAI48654;BAF84003;BAG52597;BAG54679;CAD97631;CAD97841;CBG22289;CBV35450;EAW52006;NP_004311;NP_775293;O14983 Hs.657344 1681849;1690043;2110729 RH48558;SH2B_9440;SHGC-61052 ATP2A;SERCA1 OTTHUMP00000162561;OTTHUMP00000162562;SR Ca(2+)-ATPase 1;calcium pump 1;calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 1 APPROVED protein-coding ENSG00000196296 811 00157 108730;601003 REVIEWED 732984 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 q21.3 88505957 88573975 - 89981826 90049844 - 1580863;2317726;6480464;7204695 20137670;19789383 8396145;19430479;19396169;19144698;19070897;19017653;18929409;18657858;17081983;16933204;16669348;16488415;16412504;16328033;15911623;15101689;12851406;12784250;12477932;11786550;11152753;10748016;10493800;9110174;9020386;8889548;8634322;8619474;8386431;8245032;7989379;7694502;2844759;2548572;2528729;1827443;1674727;1332771;22751097;21572416;12763866;19840794;19892708;19960030;20414254;20479155;20921432;20700443;15071553;19913121;20628086;20852445;21045733;21126504;20811636;21400627;22190034;22229515;22246182;18781797;21139048;21890473;21906983;21987572;21909110;15123239;21963094;22053931;22113938;23000965;23079715 490 E7ERY9;F8W1V5;H0YHH6;P20020 AB208896;ABBA01053417;AC025034;AC068641;AF070606;AK024895;AK027053;AK308723;AMYH01004649;AY740526;BC015346;BM974301;CH471054;DQ201776;J04027;L14561;M25824;M95541;M95542;NG_029485;NM_001001323;NM_001682;S49852;U15686;U15687 AAA35999;AAA36000;AAA58381;AAA58382;AAA58383;AAA60983;AAA60984;AAA74511;AAB24324;AAD09924;AAD09925;AAH15346;AAV41065;ABG24240;BAD92133;EAW97429;EAW97430;EAW97431;EAW97432;EAW97433;EAW97434;NP_001001323;NP_001673;P20020 Hs.506276 1654807;1736312;1746519;1771020;1771327;2156005;2161885;2190515;2191429;2219018 ATP2B1_4221;D12S1250E;D12S2009;EST13H11;G64515;MARC_21823-21824:1025099477:1;RH45012;RH66423;WI-18859;WI-7734 PMCA1;PMCA1kb OTTHUMP00000242513;OTTHUMP00000242514;OTTHUMP00000242515;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-ATPase;plasma membrane calcium-transporting ATPase 1 APPROVED protein-coding ENSG00000070961 814 00158 108731 REVIEWED 732511 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 16 16 16 q24.1 68704219 68799880 + 82959634 83055294 + 84402133 84497793 + 6480464;7204695 19789383 18676988;16332677;15831496;15677451;14702039;9734811;20887894;15071553;18839057;19646677;20379614;21906983;23144326 9914 E7ES94;H3BS90;O75185;Q5HYC3 AB014603;ABBA01016911;ABBA01016912;ABBA01016913;AC010551;AC022165;AK025424;AK091051;AK092737;AK300526;AK316128;AMYH01007868;AMYH01007869;AY791884;BX648333;CH471114;CR749829;NM_014861 AAI56685;AAV54193;BAA31678;BAG52269;BAG62238;BAH14499;CAH18686;CAI46049;EAW95483;EAW95484;EAW95485;NP_055676;O75185 Hs.6168 1643914;1682607;1703206;1776930;2162088;2182413 D16S2951;RH36547;RH65309;SGC31818;SHGC-60885;STS-N48584 DKFZp686H22230;KIAA0703;SPCA2 ATPase 2C2;calcium-transporting ATPase type 2C member 2;secretory pathway Ca(2+)-ATPase 2;secretory pathway calcium ATPase 2 protein-coding ENSG00000064270 29103 13812 613082 VALIDATED 731628 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X q28 152454774 152501581 + 152801580 152848387 + 1580863;6480464;7204695;7240710 19789383 12784250;8765088;18029348;17336174;15101689;14702039;10854409;8889548;8634322;8245032;8187550;7989379;1531651;12477932;11152753;19733838;15071553;20811636;22912398;21906983;21987572;21890473;21963094;23000965;23416519 492 Q16720;Q6ZP23 ABBA01045383;ABBA01045384;ABBA01045385;ABBA01045386;AF274858;AK090838;AK094500;AK130194;AK307765;AK308705;AMYH01023294;AMYH01023295;BC047580;BC130009;BG739902;BM680649;BM695792;BM805938;BM986989;BQ878721;BU183973;BU790224;BU790521;CH471172;DQ201779;NG_015896;NM_001001344;NM_021949;U15689;U15690;U57971;U60414;U82695 AAA60986;AAA60987;AAB09762;AAB38530;AAI30010;ABG24243;BAC85302;EAW72858;EAW72859;EAW72860;NP_001001344;NP_068768;Q16720 Hs.533956;Hs.658008 1649035;1683287;1777455;2166189 A006S03;DXS7001E;RH80841;WI-15046 PMCA3;PMCA3a;SCAX1 OTTHUMP00000025916;OTTHUMP00000025917;OTTHUMP00000025918;OTTHUMP00000214897;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 3 APPROVED protein-coding ENSG00000067842 816 02057 300014;302500 REVIEWED 734000 ATP4A ATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 19 19 q13.1 40732935 40746400 - 36041095 36054560 - 1580863;6480464;6907045 2160952;18772363;15962365;15057824;14743830;10336993;9017763;8279517;8125298;3036582;2176086;1330887;19705497;15071553;21906983;21890473;21963094;23317218 495 M0R249;P20648;Q658V6 ABBA01018746;AC002389;AD000090;AK058032;AK223259;AK308474;AL832971;AMYH01009728;J05451;M27575;M63962;NM_000704 AAA35577;AAA35988;AAA51010;AAB50172;AAB64182;AAI67780;BAD96979;CAH56338;NP_000695;P20648 Hs.36992 1857766;2190491;2218732 ATP4A;ATP4A__4392;D19S1084 ATP6A ATPase, H+/K+ transporting, alpha polypeptide;H(+)-K(+)-ATPase alpha subunit;OTTHUMP00000045780;gastric H(+)/K(+) ATPase subunit alpha;gastric H+/K+ ATPase alpha subunit;gastric H,K-ATPase alpha subunit;gastric H,K-ATPase catalytic subunit;gastric hydrogen-potassium ATPase;potassium-transporting ATPase alpha chain 1;proton pump APPROVED protein-coding ENSG00000105675 819 00668 137216 REVIEWED 1352266 ATP5A1P2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2 2 2 q24.1 149739572 149739978 + 156126143 156126549 + 9284928 504 ABBA01004822;AC092662;AMYH01011186;NG_008671 ATP5AP2 APPROVED pseudo 828 INFERRED 731733 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008] 12 12 q24.11 109203815 109273278 + 110719032 110788898 + 734619;6480464;6903963;6904139;6771209;6904140;6904142;6892953;6907045;7204695;7240710 10080178;21691940;21300842;21441944;21217071;18046670;21216827;19789383 12804600;2844796;19095005;19327826;19252085;18979109;18971376;18953100;18482030;18464913;18295663;18279980;18164028;18071073;18068335;17635506;17597815;17588601;17526652;17515962;17506935;17439322;17395056;17257557;17234728;17116488;17081983;17009399;16987514;16973504;16965263;16958257;16899508;16766529;16754798;16675202;16669348;16552539;16410239;16402920;16368801;15927817;15718407;15582584;15489334;15316170;15302935;15215242;15186327;14749390;14702039;14638697;12975374;12925205;12805933;12670936;12659872;12542527;12479238;12477932;12072062;18658259;18591429;11945024;11854448;11725862;11526231;11402072;11244492;11121153;10809745;10441325;10441324;10441323;9788433;9295312;22360692;19322201;20473970;22779921;19019082;12032137;17353931;8406504;7929371;15489859;20857128;15972723;20586837;17314412;21145461;19502158;19541629;19644701;19649297;19650915;19671701;20139366;20223560;20528919;20423818;15071553;19913121;20204653;20628086;20687374;19962989;20716843;20964649;21156808;21195084;16196087;23229631;21152695;21515674;23337962;23455922;23464991;23798571;21616533;22814319;22939629;22990118;21527373;21252943;21878908;21900893;22053931;22174317;22190034;22505724;22586326;22679139;22096575;17110338;19805454;21963094;22304920;23000965;23066896;23438482;18781797;21081666;21139048;21343306;21519848;21890473;21906983;21987572;22004489;22247554;22240811;22277942;22045735;23055483;22329366;22909361;23024360 488 F8VQW7;F8VSH0;F8W1Z7;H7C5W9;J3QSY6;P16615 ABBA01005097;ABBA01005098;AC006088;AK000300;AK095382;AK293877;AL117505;AMYH01004739;AY186578;BC035588;BC065753;BG773489;BI553880;BX648282;CH471054;M23114;M23115;M23116;M23278;NG_007097;NM_001681;NM_170665 AAA52757;AAA52758;AAA53193;AAA53194;AAH35588;AAO47398;BAG57266;EAW97902;EAW97903;EAW97904;EAW97905;EAW97906;EAW97907;NP_001672;NP_733765;P16615 Hs.506759 1650439;1669120;1675985;1736188;1736242;1855181;1855183;2191515;2218270;5093682;5491770 ATP2A2;ATP2A2__4219;D12S1133E;D12S1188E;D12S1965;D12S2026;G15902;G32862;MARC_24304-24305:1030108971:1;RH67554;WI-18984 ATP2B;DAR;DD;DKFZp686P0211;FLJ20293;FLJ38063;MGC45367;SERCA2 ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2;OTTHUMP00000240820;OTTHUMP00000240822;OTTHUMP00000246198;SR Ca(2+)-ATPase 2;calcium pump 2;calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform;cardiac Ca2+ ATPase;endoplasmic reticulum class 1/2 Ca(2+) ATPase;sarcoplasmic/endoplasmic reticulum calcium ATPase 2 APPROVED protein-coding ENSG00000174437 812 00161 101900;108740;124200 REVIEWED 1350409 ATP5A1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1 9 9 p12 41006334 41020100 + 41016328 41030100 + 9284928;9284928 642545 ABBA01001536;ABBA01001537;BX248112;NG_016587 ATP5AP1 APPROVED pseudo 827 INFERRED 3340246 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 9 9 q13 65780742 65799955 + 66058841 66060270 + 100132619 AMYH01021019;CR788261;CR788267;NG_028188 pseudo 37668 INFERRED 1343558 ATP5A1P3 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3 16 16 16 q22.2 56352912 56354761 - 70596437 70598093 - 72038802 72040651 - 9284928 645443 ABBA01016796;AC009127;AMYH01007795;NG_008672;NG_016271 1649084;1736560 D16S2555E;STS-AA020987 ATP5AP3 APPROVED pseudo 829 INFERRED 1346824 ATP5A1P4 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4 14 q23.2 63070831 63072440 - 100129782;493822 ABBA01018313;AL389895;AMYH01005784;NG_022842 ATP5AP4 APPROVED pseudo 23563 INFERRED 1348952 ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q32.1 201862551 201979832 + 203595915 203713209 + 1580863;6480464;1599351;7204695 17092653;19789383 2137451;10748016;19287093;19034380;18657858;17957572;17883705;17393022;17242280;16978418;16973504;16412504;16381901;16216224;16080782;15955804;15489336;15292209;15145946;15133509;15101689;12944246;12784250;12540962;12511555;12477932;11751908;11591728;11274188;11230166;11152753;11076863;9880546;9182531;9105688;8700162;8670083;8634322;8245032;7989379;7945253;2966397;2963820;1674727;1531651;1313367;12763866;9430700;22767601;10737800;21167220;19073225;19536175;19755660;19996092;20379614;22895189;15071553;21073872;20211863;21139678;22525089;22747683;21139048;21890473;21906983;22480210;18591664;15123239;23000965;23263863;23444010;22505724;23266958 493 H0YDG5;H7BY13;H7BZS8;P23634 ABBA01027472;ABBA01027473;AC114402;AK026443;AK292458;AK307104;AL513343;AL601702;AL706212;AMYH01001656;AMYH01001657;AW888226;BC062445;BC140774;BC150293;BF740130;BF985985;BX537444;BX537745;BX647701;CH471067;CR749393;CR936708;DN997129;DQ201780;DQ201781;M25874;M83363;NG_029589;NM_001001396;NM_001684;U42026;U42061;U42062;U42378 AAA36455;AAA50819;AAB17577;AAB17578;AAB17579;AAB17580;AAI40775;AAI50294;ABG24244;ABG24245;BAF85147;CAD97686;CAH18241;CAL38204;CAL38232;EAW91483;EAW91484;EAW91485;EAW91486;EAW91487;NP_001001396;NP_001675;P23634 Hs.343522;Hs.733333 1335881;1651901;1692748;1858385;2128491;2128769;2132616;2132618;2140460;2140745;2149681;2155418;2160440;5115016;7185266 A001V38;AL034138;D1S2376;D1S387;D1S510;G19696;RH63844;RH64618;RH64645;SHGC-12393;SHGC-56960;SHGC-76187;SHGC-76189;SHGC-76196 ATP2B2;DKFZp686G08106;DKFZp686M088;MXRA1;PMCA4;PMCA4b;PMCA4x OTTHUMP00000034088;OTTHUMP00000034089;matrix-remodeling-associated protein 1;matrix-remodelling associated 1;plasma membrane calcium ATPase;plasma membrane calcium pump;plasma membrane calcium-transporting ATPase 4;sarcolemmal calcium pump APPROVED protein-coding ENSG00000058668 817 00159 108732 REVIEWED 3277921 ATP5A1P7 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7 9 9 p11.2 46792673 46839325 + 46998210 46999499 + 442415 ABBA01183881;BX664724;NG_028724 pseudo 37665 INFERRED 1354259 ATP5A1P5 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5 9 9 p12 43294530 43341311 + 43399996 43401450 + 8168843 442416 ABBA01008832;AMYH01020252;BX649597;NG_016580 ATP5AL1 APPROVED pseudo 825 INFERRED 3516327 ATP5A1P9 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 9 9 p13.1 39654254 39655518 - 100289279 AL590812;BX088645;NG_027892 pseudo 37667 INFERRED 1346333 ATP5A2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle 1830491 499 824 2816813 ATP5A1P6 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6 9 9 p11.2 44432274 44500253 + 44558961 44560251 + 643860 AL162415;BX088651;NG_021106 pseudo 37664 INFERRED 1342586 ATP5BL2 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 508 832 3498034 ATP5A1P8 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 9 9 p12 41789252 41835883 - 41799224 41800556 - 392322 BX296545;NG_027840 pseudo 37666 INFERRED 1346159 ATP5BP1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1 2 2 q11.2 93026500 93028283 + 98822584 98824367 + 7798271;2687158;7798271;9847074 507 ABBA01073969;AC018691;AMYH01010797;NG_021261 ATP5BL1;ATPMBL1;ATPSBL1 APPROVED pseudo 831 INFERRED 1345569 ATP5C1P1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1 14 14 14 q22.2 34507371 34508463 - 53527568 53528463 - 54457649 54458741 - 631859 8168843 23259602 645560 ABBA01018189;AL138479;AMYH01005742;NG_004656 ATP5C2;ATP5CL2 APPROVED pseudo 834 INFERRED 737185 ATP4B ATPase, H+/K+ exchanging, beta polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] 13 13 q34 113351120 113360502 - 114303119 114312513 - 1580863;1300048;6480464;6907045 1656976;18787507;16341674;15489334;15155714;14743830;14685860;12651853;12477932;10722662;10336993;9315713;9017763;7900835;2160952;1335958;11865975;16344560;19694409;15071553;15057823;21963094;21988832;23317218 496 P51164 AB008783;ABBA01019874;AK310129;AL442125;AMYH01005404;BC029059;BC042846;BI764514;BM782259;BM923761;BX100065;BX537316;CH471085;DA964061;M75110;NM_000705 AAA35987;AAH29059;ABM81743;ABM84899;BAA23425;EAX09220;EAX09221;NP_000696;P51164 Hs.434202 2134093;7186188 STS-M75110 ATP6B ATPase, H+/K+ transporting, beta polypeptide;OTTHUMP00000178856;gastric H(+)/K(+) ATPase subunit beta;gastric H+/K+ ATPase beta subunit;gastric hydrogen-potassium ATPase, beta;potassium-transporting ATPase beta chain;potassium-transporting ATPase subunit beta;proton pump beta chain APPROVED protein-coding ENSG00000186009 820 00669 137217 REVIEWED 1344555 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 4 4 4 q25 103752668 103753086 + 106672994 106673412 + 106453545 106453963 + 1302227 10727396 23744 ABBA01063735;AC004066;AF277095;AMYH01014443;NG_002691 pseudo 839 INFERRED 2291819 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 13 13 13 q12 9594402 9594769 + 27417343 27417710 + 28519343 28519710 + 6480464 432369 Q5VTU8 ABBA01035737;AL591024;AMYH01004992;EC567419;EC579276;NR_002162 Q5VTU8 Hs.574118 pseudo ENSG00000180389 34026 VALIDATED 733912 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 3 3 q22.1 132096124 132218246 + 130569369 130735556 + 1580863;704409;6480464;7204695;7240710 11125071;19789383 20403116;12810057;10615129;12761501;14632183;14632182;11741891;12804581;19144698;19126050;18709316;18372165;18266684;18259764;18247307;18211433;18205868;17911984;17503064;16644186;22124882;16621454;16540292;16484827;16332677;16303743;16297192;16192278;15955096;15811949;15623514;16344560;22639968;15545997;15489334;15336968;15191544;14747290;14702039;12707275;12477932;11966689;11874499;11841554;11124703;10767338;10718198;7981684;20363212;20837466;19426624;19775426;20226632;20237496;15071553;20055875;20236194;21187401;20604898;21571222;22543864;21139048;21890473;21906983;21883398;19322201;21963094;22607350;23000965;22505724 27032 B4E295;B4E2Q0;D6R9U9;D6REJ1;D6RGE9;D6RHV9;E7ERC6;H0Y8X9;H0Y9S7;H0Y9V7;H0YAH2;Q86V73 AB037768;AB209265;ABBA01059198;ABBA01059199;ABBA01059200;AC055733;AC097105;AF181120;AF181121;AF189723;AF225981;AJ010953;AK001684;AK074692;AK296470;AK299945;AK304175;AK304374;AK314342;AL833453;AMYH01013492;AMYH01013493;AY268374;AY268375;BC028139;BF669202;BF675663;BQ220831;BU188061;CH471052;DA405579;DC343471;DC345627;DC422788;HB975274;HD032684;NG_007379;NM_001001485;NM_001001486;NM_001001487;NM_001199179;NM_001199180;NM_001199181;NM_001199182;NM_001199183;NM_001199184;NM_001199185;NM_014382 AAF26295;AAF26296;AAF27813;AAF35375;AAH28139;AAP30008;AAP30009;ABW03701;BAA91835;BAA92585;BAC11142;BAD92502;BAG36984;BAG61775;BAG65057;BAG65212;BAH12365;CAA09425;CBG22382;CBV35543;EAW79217;EAW79218;EAW79219;EAW79220;NP_001001485;NP_001001486;NP_001001487;NP_001186108;NP_001186109;NP_001186110;NP_001186111;NP_001186112;NP_001186113;NP_001186114;NP_055197;P98194 Hs.584884 1653432;1670035;1748725;2106501;2113722;2126376;2136188;2136962;2156750;2173839;2218730 A002S47;AB060927;ATP2C1_3811;HT001__6609;RH11905;RH11935;RH12102;RH78727;SHGC-110366;SHGC-77338;SHGC-77341 ATP2C1A;BCPM;HHD;KIAA1347;PMR1;SPCA1;hSPCA1 ATP-dependent Ca(2+) pump PMR1;ATPase 2C1;ATPase, Ca(2+)-sequestering;HUSSY-28;OTTHUMP00000216066;OTTHUMP00000216067;OTTHUMP00000216068;OTTHUMP00000216069;OTTHUMP00000216070;OTTHUMP00000216071;OTTHUMP00000216072;OTTHUMP00000216073;OTTHUMP00000216074;OTTHUMP00000216075;OTTHUMP00000216076;OTTHUMP00000216253;atpase, ca++-sequestering;calcium-transporting ATPase type 2C member 1;secretory pathway Ca2+/Mn2+ ATPase 1 APPROVED protein-coding ENSG00000017260 13211 05089 169600;604384 REVIEWED 5129377 ATP5F1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1 13 13 33221775 33222795 + 52172576 52173596 + 100422523 ABBA01051050;AL139183;NG_024928 pseudo 39742 INFERRED 5129401 ATP5F1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2 7 7 7 q21.3 89066180 89066987 + 94205902 94206709 + 94367966 94368773 + 645973 AACC02000013;ABBA01045781;AC104700;AMYH01017697;CH236949;NG_009430 pseudo 39743 INFERRED 5129405 ATP5F1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3 7 7 7 q36.1 147010922 147011685 + 152076981 152077756 + 152446057 152446820 + 644333 ABBA01035114;AC092180;AMYH01018154;NG_022578 pseudo 39744 INFERRED 5129378 ATP5F1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4 2 2 147630009 147630766 + 154015452 154016209 + 100422514 ABBA01004800;AC011901;AMYH01011182;NG_023742 pseudo 39745 INFERRED 5129394 ATP5F1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5 11 11 11 q24.1 119990429 119991187 + 122336090 122337006 + 122831035 122831793 + 100128516 ABBA01031278;AMYH01004095;AP003040;NG_021837 pseudo 39746 INFERRED 5129403 ATP5F1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6 6 6 6 q24.1 140675572 140676335 - 139977268 139978001 - 139935578 139936341 - 645440 ABBA01025787;AL390205;AMYH01016709;NG_022330 pseudo 39747 INFERRED 5129412 ATP5F1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7 16 16 16 q23.1 60037302 60038058 - 74300455 74301214 - 75742957 75743713 - 124496 ABBA01017056;AC025287;AMYH01007821;NG_022506 pseudo 39748 INFERRED 734400 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] 18 18 q21 41918108 41938197 - 43664110 43684199 - 1300048;1580863;6480464;6907045 12110673;17643490;10077593;11410595;4517936;1830491;19405953;19110265;16714292;16378738;16344560;15952740;15862967;15489334;15324660;14749816;14702039;12614671;12477932;11741979;11381144;9834036;9461222;9284928;8428659;8168843;8086450;8065448;7498159;1602151;17620599;19531213;21145461;21319273;21979464;17148452;19016746;19064571;19261598;19343720;19717637;20381070;20819778;20877624;12601813;18850735;21481781;23055519;20462248;23181366;15047060;16196087;19135240;20186120;20618440;21817160;22098431;21832049;22939629;15161933;17623298;18457437;18781797;19596686;21081666;21139048;21825151;21890473;21906983;21987572;21110914;22188235;16009940;20473970;21575865;21628590;23395605;19738201;20085233;21080425;21565611;21963094;21988832;22113938;23000965;23246001;23596069;23398456;23599390;22268729;22505724;22944692 498 B4DY56;K7EJP1;K7EK77;K7EKV9;K7EM08;K7ENJ4;K7ENP3;K7EQH4;K7EQU6;K7ERX7;K7ESA0;P25705 ABBA01022325;AC012569;AK092735;AK098765;AK129739;AK129804;AK129900;AK289457;AK294804;AK302272;AK310051;AMYH01008971;AMYH01008972;AU120644;AU143001;AW205533;AW207528;BC003119;BC007299;BC008028;BC011384;BC016046;BC019310;BC028335;BC035703;BC039135;BC042694;BC064562;BC067385;BT007209;CD244623;CH471088;CK002707;D14710;D28126;NM_001001935;NM_001001937;NM_001257334;NM_001257335;NM_004046;X59066;X65460 AAH03119;AAH07299;AAH08028;AAH11384;AAH16046;AAH19310;AAH39135;AAH64562;AAH67385;AAP35873;AAP36942;ABM85136;ABM92174;BAA03531;BAA05672;BAF82146;BAG52604;BAG57924;BAG63618;CAA41789;CAA46452;EAX01471;NP_001001935;NP_001001937;NP_001244263;NP_001244264;NP_004037;P25705 Hs.298280 1649084;1736560;1776819;1793330;5020274;5022322;5024761;5037552 D11S2560;D16S2555E;D8S2279;L18441;PMC20944P1;RH11585;RH36905;STS-AA020987 ATP5A;ATP5AL2;ATPM;MC5DN4;MOM2;OMR;ORM;hATP1 ATP synthase alpha chain, mitochondrial;ATP synthase subunit alpha, mitochondrial;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle;ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2;ATP sythase (F1-ATPase) alpha subunit;OTTHUMP00000163475;mitochondrial ATP synthetase, oligomycin-resistant;mitochondrial h+-atp synthase alpha subunit APPROVED protein-coding ENSG00000152234 823 01258 164360;615228 REVIEWED 1346801 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011] 20 20 20 q13.32 54344154 54347843 - 57037128 57040817 - 57603733 57607422 - 1302227;1580863;6480464;6907045 10727396 12110673;4517936;19016746;15489334;14749816;12477932;11780052;11173840;10931946;9834036;9461222;2137333;20026007;16712791;20877624;16344560;21988832;21890473;16236267 514 P56381 ABBA01005967;AF052955;AF077045;AK026556;AK315493;AL109840;AMYH01012024;BC001690;BC003671;BC070167;BC105811;BT007293;CB106920;CH471077;DA202623;NG_031871;NM_006886 AAD27778;AAF72736;AAH01690;AAH03671;AAI05812;AAP35957;BAG37877;EAW75444;EAW75445;EAW75446;NP_008817;P56381 Hs.177530 1644487;1657577;1714297;2181462;5023463 RH119929;RH36304;RH78170;STS-N30323;STS-R77463 ATPE;MC5DN3;MGC104243 ATP synthase subunit epsilon, mitochondrial;ATPase subunit epsilon;F(0)F(1)-ATPase;H(+)-transporting two-sector ATPase;OTTHUMP00000031404;OTTHUMP00000174442;mitochondrial ATP synthase epsilon chain;mitochondrial ATPase APPROVED protein-coding 838 05856 606153;614053 REVIEWED 1347596 ATP5G1P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1 14 14 14 q32.33 86055966 86056512 - 105074029 105074775 - 106003083 106003629 - 319136 ABBA01008884;AL928742;AMYH01006084;NG_002514 ATP5GP3 APPROVED pseudo 19815 INFERRED 1353040 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1175982 1179057 + 1192749 1195824 + 1241749 1244824 + 1580863;6480464;6907045 12539966;12110673;1531933;4517936;12887009;15489334;15057824;14749837;14749816;14702039;12477932;11533724;9834036;9657145;1286669;21319273;22939629;22623531;21139048;22190034 513 P30049 ABBA01002634;AC004221;AK094357;AMYH01009235;BC002389;BC004426;BC018079;BC018817;BC050458;BC058927;CH471139;CR542218;NM_001001975;NM_001687;S87916;S87918;X63422;X63423 AAA08055;AAC04304;AAH02389;AAH04426;AAH18079;ABB76284;CAA45016;CAA45017;CAG47014;EAW69531;EAW69532;EAW69533;EAW69534;NP_001001975;NP_001678;P30049 Hs.418668 1681596;5015619;5021872 D11S3114;RH80863;sY3084 ATP synthase subunit delta, mitochondrial;F-ATPase delta subunit;mitochondrial ATP synthase complex delta-subunit precusor;mitochondrial ATP synthase, delta subunit APPROVED protein-coding ENSG00000099624 837 04397 603150 REVIEWED 1351129 ATP5G1P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2 14 14 14 q12 11654826 11655393 - 30858978 30859702 - 31789327 31789894 - 319137 ABBA01061419;AL139353;AMYH01005642;NG_002515 ATP5GP4 APPROVED pseudo 19817 INFERRED 732616 ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008] 10 10 p15.1 7870099 7889770 + 7830093 7849764 + 631859;1300048;1580863;6480464;6907045 8168843 12110673;8227057;4517936;12887009;17686786;16169070;15489334;15164054;14749837;14749816;12477932;11744705;11533724;9834036;9657145;9461222;8065448;17207965;20877624;16385451;19064571;19834535;21145461;21832049;22939629;16196087;17314511;19167051;20186120;19531499;21139048;21890473;21906983;19738201;21963094;21988832;23395605 509 B4DL14;P36542;Q8TAS0 ABBA01034735;AK292896;AK294061;AK296803;AL158044;AL353754;AMYH01002013;BC000470;BC000931;BC010380;BC013394;BC013865;BC016812;BC020824;BC026049;BQ893894;CH471072;CR457403;D16561;D16562;D16563;NM_001001973;NM_005174 AAH00470;AAH00931;AAH13394;AAH16812;AAH20824;AAH26049;ADQ32623;BAA03994;BAA03995;BAA03996;BAA03997;BAF85585;BAG57407;BAG59376;CAG33684;EAW86372;EAW86373;NP_001001973;NP_005165;P36542 Hs.271135 5017182;5120942 RH1622;RH65246 ATP5C;ATP5CL1 ATP synthase gamma chain, mitochondrial;ATP synthase subunit gamma, mitochondrial;F-ATPase gamma subunit;OTTHUMP00000019068;OTTHUMP00000019069;mitochondrial ATP synthase, gamma subunit 1 APPROVED protein-coding ENSG00000165629 833 00156 108729 REVIEWED 4892171 ATP5G1P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6 18 q21.3 61164175 61164731 + 100505704 ABBA01056222;AC036176;AMYH01009056;NG_028974 pseudo 39509 INFERRED 4892173 ATP5G1P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4 3 3 q26.31 170945494 170946038 - 172546423 172547005 - 100287755 ABBA01058644;AC108667;AMYH01013654;NG_028935 pseudo 39507 INFERRED 4892172 ATP5G1P8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8 10 q22.3 78596104 78596715 + 100288222 ABBA01020241;AC011439;AC013738;AMYH01002846;NG_028756 2161656;2172002;2183182 A003B45;NIB1917;RH11276 pseudo 39511 INFERRED 4892148 ATP5G1P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5 13 13 13 q33.3 88160014 88160536 + 106113786 106114301 + 107315740 107316298 + 390424 ABBA01027046;AL442127;AMYH01005358;CH471085;NG_023226 EAX09090 pseudo 39508 INFERRED 4892192 ATP5G1P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3 3 3 3 q22.3 137034539 137035241 - 140090784 140091489 - 138608097 138608799 - 646619 ABBA01059073;AC092947;AMYH01013535;NG_022220 1335298;1337904;1731677 D3S1535;D3S1665;D8S1019 pseudo 39506 INFERRED 5133592 ATP5G2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3 2 q33.1 198127781 198128402 + 100507097 ABBA01062468;AC074092;AMYH01011388;NG_029212 pseudo 42187 INFERRED 4892174 ATP5G1P7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7 10 10 10 q22.1 64469136 64473750 - 70862731 70867348 - 71192620 71193169 - 100130962 ABBA01019607;AC016821;AMYH01002807;NG_028965 pseudo 39510 INFERRED 1344847 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008] 12 12 q13.13 55318226 55326119 - 57031959 57039852 - 1580863;6480464;6907045 12110673;17643490;10077593;11410595;17510399;2870059;18063578;2900241;2687158;18284036;16996794;16927672;16890199;16751257;16236267;16230521;15952740;15635413;15489334;15324660;15242332;14749816;12511957;12477932;12206899;11790298;9834036;16009940;20473970;21628590;9461222;8065448;7798271;4517936;2896550;1602151;16169070;14499622;20012595;20663914;18029348;19567816;19878569;20028336;20067530;8006588;20705594;12601813;21193741;16196087;20171186;19343720;19596686;21081666;21900206;21987572;22022619;22079093;21481781;20462248;23077236;23106098;23181366;23182705;21182205;22863883;22939629;20186120;20618440;17620599;21139048;21890473;21906983;21110914;19847302;23395605;21145461;21319273;22753871;19738201;19805454;21080425;21382349;21963094;22304920;22433606;22623428;22751105;23000965;23246001;23463654;22190034;22268729;22505724 506 F8VPV9;F8VQY0;F8W079;F8W0P7;H0YH81;H0YI37;P06576 ABBA01008432;AC090681;AK291085;AMYH01004506;BC016512;BI561028;CH471054;DQ403107;HC091114;M19483;M27132;NM_001686;X05606 AAA51808;AAA51809;AAH16512;ABD77240;ABM82511;ABM85705;BAF83774;CAA29095;CBI68016;EAW96952;NP_001677;P06576 Hs.406510 1661902;1736226;2122595;5021151;5094896 ATP5B;D12S1168E;M27132;RH18073;RH78335 ATPMB;ATPSB;MGC5231 ATP synthase subunit beta, mitochondrial;OTTHUMP00000243448;OTTHUMP00000243449;OTTHUMP00000243452;mitochondrial ATP synthase beta subunit;mitochondrial ATP synthetase, beta subunit APPROVED protein-coding ENSG00000110955 830 00044 102910 REVIEWED 1344994 ATP5G2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2 14 14 14 q21.3 29700544 29701166 + 48910340 48911102 + 49840630 49841252 + 22610502 319119 ABBA01018106;AL512361;AMYH01005711;NG_002500 ATP5GP2 APPROVED pseudo 19672 INFERRED 1354351 ATP5G2P1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1 1 1 1 q32.2 182671846 182672479 - 207507520 207508347 - 209440995 209441628 - 8328972 520 ABBA01048220;AC092810;AMYH01001696;NG_005472;X69909 ATP5GP1 APPROVED pseudo 844 INFERRED 5133627 ATP5G2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4 X X X p11.4 46100079 46100707 - 41842702 41843528 - 41957856 41958484 - 654480 ABBA01046588;ABBA01046589;AMYH01022236;NG_005473;Z92545 1694112;1702078;2121309;2136375;2157201;5108958 AL035126;DXS1379;DXS1700;DXS7055;DXS7512;L77298 pseudo 42188 INFERRED 2303321 ATP5HP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1 15 15 15 q15.2 20330865 20331459 - 41347235 41348009 - 43560029 43560623 - 390581 ABBA01038351;AC009852;AMYH01006588;NG_004675;NG_016124 1678863 RH17542 HsT18164 APPROVED pseudo 31021 INFERRED 736319 ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008] 1 1 p13.2 111793266 111806063 + 111991743 112004540 + 1300048;1580863;6480464;6907045 7821789;22779921;12110673;17353931;1831354;2868890;16710414;15489334;14749816;12477932;11827452;9834036;9461222;8125298;7706317;2883974;20038517;21319273;19016746;19064571;19650768;19834535;4517936;20877624;22939629;16196087;20186120;18781797;21139048;21906983;22190034 515 P24539;Q08ET0;Q5QNZ2 ABBA01068397;AI754631;AK223018;AK291077;AK308266;AK313541;AL390195;AMYH01000946;AW385236;AW778751;AY871272;BC005366;BC005960;BC016350;BF237506;CH471122;D28383;NM_001688;X60221 AAH05366;AAH05960;AAH16350;AAX11428;BAA05749;BAD96738;BAF83766;BAG36318;CAA42782;EAW56495;EAW56496;NP_001679;P24539 Hs.514870 1337813;1677606;1692086;2186101;5016709;5022651;5037552 AL033683;D11S2921;D18S1034;D1S2789;D8S2279;RH65130;RH70850 MGC24431;PIG47 ATP synthase B chain, mitochondrial;ATP synthase subunit b, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1;ATPase subunit b;H+-ATP synthase subunit b;OTTHUMP00000013469;OTTHUMP00000013470;atp synthase, h+ transporting, mitochondrial f0 complex, subunit b, isoform 1;cell proliferation-inducing protein 47 APPROVED protein-coding 840 04467 603270 REVIEWED 1348420 ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 43424432 43427516 + 44325147 44328232 + 46970148 46973233 + 1580863;6480464;6907045 8328972;11230166;11076863;9834036;9461222;8889548;8485160;7698763;2883974;12477932;16381901;15906478;15489336;15489334;14749816;14702039;20877624;11256614;19889836;4517936;21378990;21139048 516 D6R9H7;E7EPU7;E7EQ97;P05496;Q6FIH7 ABBA01041181;AC091133;AK095669;AK311848;AL080089;AMYH01008457;BC004963;BF573360;BG611396;BT007230;BU596803;CF129854;CH471109;CR533449;D13118;M16453;NM_001002027;NM_005175;X69907 AAA51806;AAH04963;AAP35894;BAA02420;BAG34790;CAA49532;CAB45704;CAG38480;CAL38315;EAW94705;EAW94706;NP_001002027;NP_005166;P05496 Hs.80986 1660693;2137703 D17S2035;WI-18744 ATP5A;ATP5G ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P1;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9);ATPase protein 9;ATPase subunit 9;ATPase subunit C;OTTHUMP00000218389;OTTHUMP00000218391;OTTHUMP00000218448;OTTHUMP00000218449;OTTHUMP00000218450;mitochondrial ATP synthase, subunit 9, isoform 1;mitochondrial ATP synthase, subunit C, isoform 1 APPROVED protein-coding ENSG00000159199 841 04428 603192 REVIEWED 7240984 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene 101241877 AP000694;NG_033132 pseudo ENSG00000224421 849 INFERRED 5013862 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 7 q 99014362 99063824 - 12853948;20967262;9847074 100526740 B4DJ38;G3V325 AACC02000084;ABBA01013261;ABBA01013262;ABBA01013263;AC004922;AC073063;AC090113;AK295912;AMYH01017721;CH236956;NM_001198879 BAG58700;NP_001185808 Hs.632313 1693582;5015619;5015961;5022588;5022651;5037552 D11S2921;D11S3114;D15S1477;D5S1597E;D8S2279;SHGC-58489 FLJ56092 ATP5J2-PTCD1 fusion protein;ATP5J2-PTCD1 read-through transcript;OTTHUMP00000218971 APPROVED protein-coding ENSG00000248919 38844 VALIDATED 736098 ATP5G2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010] 12 12 12 q13.13 53709025 53720613 - 52345211 52356779 - 54058944 54070512 - 1300048;1580863;6480464;6907045 7821789;8328972;16303743;15489334;14749816;12477932;11329013;9834036;9461222;8485160;7706317;7698763;2883974;19064571;20189936;20877624;22645275 517 F8VXQ8;F8W041;Q06055 ABBA01008355;AC073594;AK075351;AK130971;AK311357;AMYH01004483;AV737582;BC013839;BC020826;BF337574;BG217012;BQ682406;BX348847;CH471054;D13119;D28402;H83751;M16439;NM_001002031;NM_005176;X69908 AAA51804;AAH20826;ABM82293;ABM85473;BAA02421;BAA05768;BAG52118;CAA49533;EAW96725;EAW96726;NP_001002031;NP_005167;Q06055 Hs.524464 1747705;2127399;2147163;5015619;5015861;5015879;5020946;5021228;5022322;5037552;5118576;7185938 A006X11;D10S16;D11S2560;D11S3114;D11S3430;D12S2096;D8S2279;G64259;GDB:312794;GDB:314949;L17971 ATP5A ATP synthase c subunit;ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9);ATPase protein 9;ATPase subunit C;OTTHUMP00000164641;OTTHUMP00000164642;OTTHUMP00000242922;mitochondrial ATP synthase, subunit C (subunit 9), isoform 2 APPROVED protein-coding ENSG00000135390 842 04429 603193 REVIEWED 734314 ATP5G3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010] 2 2 2 q31.1 169654533 169660034 - 175749232 175754736 - 176040986 176046490 - 1300048;1580863;6480464;6907045 14667819;7698763;15815621;15489334;14749816;12477932;9834036;9461222;8328972;2883974;20877624;22505724 518 P48201;Q6LEU9 ABBA01062204;AC096649;AK125917;AK311999;AMYH01011286;AW025164;BC106881;BF210704;BI756002;BI765737;BQ054164;CA424417;CH471058;CR407601;NM_001002258;NM_001190329;NM_001689;U09813 AAA78807;AAI06882;AAX88970;ACE87781;ACT64448;BAG34937;CAG28411;EAX11105;EAX11106;EAX11107;EAX11108;NP_001002258;NP_001177258;NP_001680;P48201 Hs.429 1658328;1689761;1734992;1856922;2120992;5022651 D11S2921;D2S1729E;RH16634;RH46434;RH98914;SHGC-56806 MGC125738;P3 ATP synthase lipid-binding protein, mitochondrial;ATP synthase proteolipid P3;ATP synthase subunit 9;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9);ATP synthase, mitochondrial, C subunit-3;ATPase protein 9;ATPase subunit C;OTTHUMP00000163263;OTTHUMP00000205361;OTTHUMP00000205362;atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9) isoform 3 APPROVED protein-coding 843 04112 602736 REVIEWED 1343122 ATP5J2P3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3 9 q21.2 79655332 79655586 + 445573 ABBA01033919;AL353637;AMYH01021428;NG_032710 bA159H20.5 APPROVED pseudo 21286 INFERRED 1642107 ATP5J2P4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4 17 17 17 q 56957472 56957880 + 59918014 59918603 + 62487635 62488043 + 654485 ABBA01035297;AC009994;AC138744;AC234063;AMYH01008560;NG_005476;NG_013029 APPROVED pseudo 32451 INFERRED 1642108 ATP5J2P5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5 12 12 12 p13.3 7995235 7995652 - 6249354 6249939 - 6379191 6379608 - 654484 ABBA01017634;AC006057;AMYH01004202;NG_005477 APPROVED pseudo 33611 INFERRED 1346132 ATP5J2P2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2 6 6 6 q21 109974585 109975005 + 109335265 109335892 + 109228680 109229099 + 387107 ABBA01026140;AL445189;AMYH01016581;NG_004672 1670584;1768762 GDB:4584994;WI-18640 bA249L21.4 APPROVED pseudo 21540 INFERRED 1642106 ATP5J2P6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6 15 15 15 q22 43596828 43597253 - 64494092 64494714 - 66707138 66707563 - 654486 ABBA01038822;AC011276;AMYH01006722;NG_005475;NG_008305 APPROVED pseudo 33612 VALIDATED 1354458 ATP5J2LP ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene DISCONTINUED: This record has been withdrawn by the NCBI staff because it was annotated on the wrong strand. This pseudogene locus is now represented by GeneID:101241877. 21 21 21 q22.13 22959439 22959874 + 36682922 36683357 + 37761052 37761487 + 10830953 54100 AP000694;AP001725 APPROVED pseudo WITHDRAWN 2902896 ATP5JP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1 Y Y Y p11.2 2446539 2446873 - 6829074 6829608 + 6769175 6769509 + 12815422;9847074 359997 ABBA01034865;AC011297;NG_002918 2125637 DYS265 pseudo 23933 INFERRED 735304 ATP5J ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010] 21 21 q21.1 26018662 26029836 - 27096791 27107965 - 1300048;1580863;6480464;6484113;6907045 12110673;1830479;1825642;18243211;17456993;16532470;16230521;15785006;15709156;15489334;14749816;14633154;12745923;12628343;12477932;12471886;11230166;10830953;9834036;9732751;9461222;7698763;1286669;19106112;4517936;19064571;18029348;19759913;20877624;20811295;22939629;20953793;21900206;21890473;22038518;22190034 522 A8MUH2;P18859;Q6IB54;Q6NZ59 ABBA01057211;AI085837;AK311899;AL110183;AMYH01012174;AP000226;AY544129;BC001178;BC066310;BG938438;BI093033;BQ268216;BT007244;BU174560;CH471079;CR456950;M37104;M73031;NM_001003696;NM_001003697;NM_001003701;NM_001003703;NM_001685 AAA51807;AAA58630;AAH01178;AAH66310;AAP35908;AAT11160;BAG34840;CAB53667;CAG33231;EAX09970;EAX09971;EAX09972;EAX09973;EAX09974;EAX09975;NP_001003696;NP_001003697;NP_001003701;NP_001003703;NP_001676;P18859 Hs.246310 1678055 RH38901 ATP5;ATP5A;ATPM;CF6;F6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6;ATP synthase-coupling factor 6, mitochondrial;ATPase subunit F6;OTTHUMP00000096106;OTTHUMP00000096107;OTTHUMP00000096108;OTTHUMP00000096110;OTTHUMP00000096111;OTTHUMP00000096112;coupling factor 6;mitochondrial ATP synthase, coupling factor 6;mitochondrial ATP synthase, subunit F6;mitochondrial ATPase coupling factor 6;proliferation-inducing protein 36 APPROVED protein-coding ENSG00000154723 847 04399 603152 REVIEWED 1350783 ATP5I ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 4 4 4 p16.3 606912 634112 - 656225 658122 - 666225 668127 - 1580863;6480464;6907045 12110673;18060860;16682002;15489334;14749816;12745923;12628343;12477932;12471886;11939412;10409428;9834036;9461222;8702853;18029348;20877624;16344560;4517936;22939629;19167051;21139048 521 P56385;Q9Y6W4 AB028624;ABBA01019337;AC107464;AK000656;AMYH01013838;BC003679;BC017215;BC105610;BF215596;BG940181;BG943252;BT006922;CH471131;D50371;DA119852;NM_007100;NR_033743 AAH03679;AAI05611;AAP35568;AAP36676;BAA23322;BAA78778;EAW82660;NP_009031;P56385 Hs.85539 1341961;1646206;1849572;5017192;5128289 D4S2936;D4S913;G34358;RH48833;SHGC-152391 ATP5K;MGC12532 ATP synthase e chain, mitochondrial;ATP synthase subunit e, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E;ATPase subunit e;F1F0-ATP synthase, murine e subunit;OTTHUMP00000109533 APPROVED protein-coding ENSG00000169020 846 03308 601519 REVIEWED 1344028 ATP5LP3 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3 4 4 p15.2 24268409 24269118 - 24659285 24660044 - 53409 ABBA01032684;AC114777;AF261723;AMYH01014065;NG_005043 1697932 RH102495 ATP5KP3;ATPE5KP3 APPROVED pseudo 13216 INFERRED 1350659 ATP5LP1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1 11 11 11 q13.1 60927942 60928394 - 63358640 63359092 - 63602064 63602516 - 53411 ABBA01003271;AF261721;AMYH01003697;AP006289;NG_004834;NG_029771 ATP5KP1;ATPE5KP1 APPROVED pseudo 13214 INFERRED 1353372 ATP5LP2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2 6 6 6 q22.31 123925257 123925667 - 123222447 123222857 - 123180748 123181158 - 53410 ABBA01025980;AF261722;AL732431;AMYH01016637;NG_005040 ATP5KP2 APPROVED pseudo 13215 INFERRED 1351705 ATP5H ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010] 17 17 17 q25 69628209 69636011 - 70546550 70554669 - 73034955 73043074 - 1580863;6480464;6907045 12110673;19110265;15489334;14749816;14702039;12745923;12628343;12477932;12471886;11042152;9834036;9461222;7509337;16169070;19016746;4517936;20877624;21832049;22939629;20186120;21139048;21890473;21906983;22190034 10476 A0PJH2;F5H608;O75947 AA608885;ABBA01028819;AC087651;AF061735;AF070650;AF086159;AF087135;AK095671;AK312230;AMYH01008629;BC029392;BC032245;BC038092;CH471099;NM_001003785;NM_006356 AAC36338;AAD20956;AAG43146;AAH29392;AAH32245;AAH38092;BAG35163;EAW89228;EAW89229;NP_001003785;NP_006347;O75947 Hs.514465 1678863;5015619;5020946;5022604;5037552 D11S3114;D12S1156E;D8S2279;L17971;RH17542 ATP5JD;ATPQ ATP synthase D chain, mitochondrial;ATP synthase subunit d, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d;ATP synthase, H+ transporting, mitochondrial F1F0, subunit d;ATPase subunit d;My032 protein APPROVED protein-coding ENSG00000167863 845 16519 REVIEWED 3254930 ATP5LP5 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5 3 3 q25.2 150936911 150963022 - 152518223 152544334 - 22610502 100287091 ABBA01058888;ABBA01058889;AC013251;AMYH01013587;NG_022986 pseudo 38167 INFERRED 3051036 ATP5LP4 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4 4 4 4 q31.23 146945332 146945638 - 149844128 149844434 - 149624678 149624984 - 22493691 100130396 ABBA01070067;AC108935;AMYH01014608;NG_022979 pseudo 38165 INFERRED 3051009 ATP5LP6 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6 17 17 70792526 70792796 - 74198607 74198877 - 100462865 ABBA01028754;AC015801;AMYH01008639;NG_022453 pseudo 38168 INFERRED 3051010 ATP5LP8 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8 11 11 28312312 28312614 - 28166450 28166752 - 100462862 ABBA01060959;AC023206;AMYH01003457;NG_021779 pseudo 38170 INFERRED 3028767 ATP5LP7 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7 17 17 q21.2 37455320 37455629 + 40799856 40800165 + 100287964 AC067852;NG_023016 pseudo 38169 INFERRED 1345847 ATP5J2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010] 7 7 7 q22.1 93789985 93798009 - 98893720 98901744 - 99055784 99063824 - 1298632;1580863;6480464;6907045 9653160 12110673;11959398;16169070;15489334;14749816;14702039;12745923;12690205;12628343;12477932;12471886;11042152;9834036;9461222;8125298;20877624;18505769;18596870;15146197;16344560;19064571;4517936;16712791;22939629;17314511;17342744;18781797;21139048 9551 C9JU26;E5RKA0;F5H4H2;P56134 AACC02000084;ABBA01013261;ABBA01013262;AC073063;AF047436;AF088918;AK094388;AK123419;AK223348;AMYH01017721;AY046911;BC003678;BE139254;BU587946;CB110074;CB155273;CD173604;CD176299;CH236956;CH471091;CN274665;CR456891;CR542155;CS072281;DA064847;DB114195;EL952520;NM_001003713;NM_001003714;NM_001039178;NM_004889 AAC34895;AAC39887;AAH03678;AAL06647;BAD97068;CAG33172;CAG46952;CAI93419;EAL23877;EAW76661;NP_001003713;NP_001003714;NP_001034267;NP_004880;P56134 Hs.521056;Hs.656515 1670584;1768762;5124605 GDB:4584994;RH91344;WI-18640 ATP5JL ATP synthase f chain, mitochondrial;ATP synthase subunit f, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2;F1F0-type ATPase subunit f;F1Fo-ATP synthase complex Fo membrane domain f subunit;F1Fo-ATPase synthase f subunit;OTTHUMP00000206242;OTTHUMP00000206270;OTTHUMP00000206317;OTTHUMP00000214468;OTTHUMP00000214469;OTTHUMP00000225439 APPROVED protein-coding ENSG00000241468 848 16520 REVIEWED 1344612 ATP5L2 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 22 22 22 q13.2 26946291 26947085 - 41365753 41366551 - 43035809 43036607 - 1580863;6480464 15489334;12477932;10361692 267020 Q7Z4Y8 ABBA01017932;AF092923;AMYH01012821;BC093719;BC093721;NG_012194;NM_001165877 AAP97217;NP_001159349;Q7Z4Y8 Hs.664737 2220506 UniSTS:483707 ATP5K2;dJ222E13.5 ATP synthase subunit g 2, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2-like;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit g 2;OTTHUMP00000220201;atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2 APPROVED protein-coding ENSG00000249222 13213 VALIDATED 1343474 ATP5S ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30646177 30660090 + 49848797 49862418 + 50779047 50792960 + 1580863;6480464 6143319;16806233;14749816;12745923;12628343;12477932;12471886;11744738;9834036;9461222;9110174;8619474;16344560;20877624 27109 G3V446;Q8WXQ4;Q99766 ABBA01018131;ABBA01018132;AF052186;AF390029;AK290008;AL359397;AMYH01005723;AY052377;BC011549;BC087851;BG699167;BI755956;BU189283;CD517203;CH471078;DA033027;NM_001003803;NM_001003805;NM_015684;NR_033761;U79253 AAB50202;AAH11549;AAL13058;AAL58839;BAF82697;EAW65718;EAW65719;EAW65720;EAW65721;EAW65722;EAW65723;NP_001003803;NP_001003805;NP_056499;Q99766 Hs.438489 1676696;1677959;1736394;2110271;2159299;5093390 ATP5S_9524;D14S654E;G32690;RH40006;RH71262;RH99086 ATPW;FB;HSU79253 ATP synthase coupling factor B, mitochondrial;ATP synthase coupling factor B-like 1;ATP synthase subunit s, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B);ATP synthase-coupling factor B;OTTHUMP00000244611;OTTHUMP00000244612;OTTHUMP00000244614;mitochondrial ATP synthase regulatory component factor B APPROVED protein-coding ENSG00000125375 18799 12503 REVIEWED 1605674 ATP5SL ATP5S-like 19 19 19 q13.2 38737074 38745696 - 46629064 46637650 - 41937223 41945843 - 6480464 14702039;12477932;16344560;20877624;21682944;20881960;23065704 55101 B4DFT4;K7EIV4;K7ESN5;M0QX81;M0QZC4;M0QZP7;M0R078;Q9NW81 ABBA01040809;AC011526;AK001103;AK055565;AK123631;AK293132;AK294249;AK297698;AK298197;AK301940;AK316313;AMYH01009820;BC013323;BQ072604;CH471126;DA075924;DA703197;NM_001167867;NM_001167868;NM_001167869;NM_001167870;NM_001167871;NM_018035;NR_030765 AAH13323;ADZ15772;BAA91503;BAG56681;BAG57545;BAG60056;BAG60467;BAG63360;BAH14684;EAW57042;EAW57043;EAW57044;EAW57045;NP_001161339;NP_001161340;NP_001161341;NP_001161342;NP_001161343;NP_060505;Q9NW81 Hs.351099 1854126;2136320;2142506;2142508;2156652;5022651 A005U20;D11S2921;G20507;IB1022;RH35849;SHGC-24398 FLJ10241;FLJ31003;FLJ60315 ATP synthase subunit s-like protein protein-coding ENSG00000105341 25496 07655 VALIDATED 1352647 ATP5L ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] 11 11 11 q23.3 115429967 115438425 + 117777314 117785772 + 118272104 118280562 + 1580863;6480464;6907045 12110673;17353931;16381901;15489336;15489334;14749816;12745923;12628343;12477932;12471886;11230166;11076863;11042152;9834036;9461222;21319273;11256614;17137291;4517936;20819778;20877624;22939629;16196087;20186120;21139048;21890473;21906983;20876399 10632 E9PN17;O75964 AA258888;ABBA01039711;AF070655;AF087846;AF092124;AI337729;AK289568;AL050277;AMYH01004068;AP001267;BC015128;BC070165;BU953217;CH471065;CR533494;CR542211;NM_006476;NR_033759 AAC61597;AAD20961;AAH15128;AAH70165;AAP97159;BAF82257;CAB43378;CAG38525;CAG47007;CAL37942;CAL38390;EAW67376;NP_006467;O75964 Hs.486360 1652607;1671185;2141064 A006R09;D20S1118;RH66640 ATP5JG ATP synthase g chain, mitochondrial;ATP synthase subunit g, mitochondrial;ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G;ATP synthase, H+ transporting, mitochondrial F1F0, subunit g;ATPase subunit G;F1F0-type ATP synthase subunit g;F1Fo-ATP synthase complex Fo membrane domain g subunit;OTTHUMP00000232646 APPROVED protein-coding ENSG00000167283 14247 09815 REVIEWED 1603596 ATP6AP1L ATPase, H+ transporting, lysosomal accessory protein 1-like 5 5 5 q14.2 77506144 77519126 + 81636922 81649903 + 81601166 81614147 + 6480464 14702039;12477932 92270 Q52LC2 ABBA01062071;AC010598;AK022625;AK094973;AMYH01015451;BC093982;BC112191;CH471084;NM_001017971 AAH93982;AAI12192;EAW95889;EAW95890;NP_001017971;Q52LC2 Hs.729805 1849644;5037552 D8S2279;G09812 MGC138396 V-type proton ATPase subunit S1-like protein;vacuolar proton pump subunit S1-like protein protein-coding ENSG00000205464 28091 18710 PROVISIONAL 1348097 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008] 21 21 q22.11 34197627 34210028 - 35275757 35288158 - 1580863;6480464;6907045 10830953;8125298;12110673;15850986;7490082;17851741;15489334;14702039;12665801;12477932;21319273;19064571;19274082;19615732;4517936;17567994;20800603;20877624;17571346;22939629;22190034;16196087;20972266;21139048;21890473;21906983;19738201;22304920;22623428;23000965;23222517;23246001;23046812 539 H7C068;H7C086;H7C239;H7C2P9;P48047 ABBA01057362;AF088071;AK093795;AK124187;AK222608;AK222962;AK311796;AMYH01012213;AP000313;AV734214;AW518473;BC021233;BC022865;BT019836;CD174837;CH471079;CR456822;NM_001697;X83218 AAH21233;AAH22865;AAV38639;ADZ16081;BAD96328;BAD96682;BAG34739;CAA58219;CAG33103;EAX09802;EAX09803;EAX09804;NP_001688;P48047 Hs.409140 1646399;1677438;1801022;1801862;1813084;1814678;1820598;1820712;1821046;1824404;1824634;1826422;1832294;1834780;1835432;1844312;1845576;1858612;2032308;2032310;2032312;2032314;2032316;2032318;2032320;2032322;2032324;2032326;2032328;2032330;2032332;2032334;2032336;2032338;2032340;2032342;2032344;2032346;2032348;2032350;2032352;2032354;2032356;2032358;2032360;2032362;2032364;2032366;2032368;2032370;2032372;2032374;2032376;2032378;2032380;2032382;2032384;2032386;2032388;2032390;2032392;2032394;2032396;2032398;2032400;2032402;2032404;2032406;2032408;2032410;2032412;2032414;2032416;2032418;2032420;2032422;2032424;2032426;2032428;2032430;2032432;2032434;2032436;2032438;2101860;2101862;2101864;2101866;2101868;2101870;2101872;2101874;2101876;2101878;2101880;2101882;2168124;5096338 D21S1977;D21S1980;ECD01377;ECD01812;ECD07561;ECD08369;ECD11374;ECD11431;ECD11600;ECD13300;ECD13415;ECD14325;ECD17286;ECD18538;ECD18871;ECD23370;ECD24006;ECD24507;REN87161;REN87162;REN87163;REN87164;REN87165;REN87166;REN87167;REN87168;REN87169;REN87170;REN87171;REN87172;REN87173;REN87174;REN87175;REN87176;REN87177;REN87178;REN87179;REN87180;REN87181;REN87182;REN87183;REN87184;REN87185;REN87186;REN87187;REN87188;REN87189;REN87190;REN87191;REN87192;REN87193;REN87194;REN87195;REN87196;REN87197;REN87198;REN87199;REN87200;REN87201;REN87202;REN87203;REN87204;REN87205;REN87206;REN87207;REN87208;REN87209;REN87210;REN87211;REN87212;REN87213;REN87214;REN87215;REN87216;REN87217;REN87218;REN87219;REN87220;REN87221;REN87222;REN87223;REN87224;REN87225;REN87226;RH93444;STS-N98935;stSG607539;stSG607540;stSG607541;stSG607542;stSG607543;stSG607544;stSG607545;stSG607546;stSG607547;stSG607548;stSG607549;stSG607550 ATPO;OSCP ATP synthase subunit O, mitochondrial;OTTHUMP00000067745;human ATP synthase OSCP subunit;oligomycin sensitivity conferral protein;oligomycin sensitivity conferring protein APPROVED protein-coding ENSG00000241837 850 02899 600828 REVIEWED 733467 ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. [provided by RefSeq, Jul 2008] X X q28 153310172 153318056 + 153656978 153664862 + 1300048;1580863;6480464;6907045 8248200;8733135;16381901;16344560;16303743;15489336;15489334;14702039;12477932;11983866;11923311;11076863;10440860;10340843;10336633;10224039;10221984;9442887;9210392;8281148;8034313;16169070;19246570;19913121;20628086;22939629;22268729;22505724;16196087;21139048;21906983;21987572;23284715;21963094;21988832;22810585 537 A6NLC6;A6QRJ1;F2Z3L8;H7C0T7;H7C2Y8;Q15904;Q9H0C7 ABBA01045278;ABBA01045279;ABBA01045280;ABBA01045281;ABBA01045282;ABBA01045283;AC244090;AK026519;AK075284;AK090462;AK091083;AK130616;AK289452;AK301603;AL136851;AMYH01023315;BC000724;BC109247;BX461330;BX936347;BX936385;CH471172;D16469;DA921677;NM_001183;X87195 AAH00724;ABM83065;ABM86259;BAA03938;BAC03443;BAC11520;BAF82141;BAG52282;BAG63090;CAB66785;CAL37445;CAL38190;CAL38747;EAW72712;EAW72713;EAW72714;EAW72715;NP_001174;Q15904 Hs.633817;Hs.6551 1657750;1665745;1667649;1702278;1703114;1748063;1748065;1787972;1787974;1787976;1787978;1799974;1800456;1800500;1800740;1801122;1802538;1803456;1803870;1806942;1807752;1807754;1808018;1810544;1811570;1812090;1812162;1812364;1812436;1812628;1813168;1813966;1816458;1817284;1817662;1817984;1825204;1831038;1833682;1839912;1844382;1844522;1844912;1845378;2037022;2037024;2037026;2037028;2037030;2037032;2037034;2037036;2037038;2037040;2037042;2037044;2037046;2037048;2037050;2037052;2037054;2037056;2037058;2037060;2037062;2037064;2037066;2037068;2037070;2037072;2037074;2037076;2037078;2037080;2037082;2037084;2037086;2037088;2037090;2037092;2037094;2037096;2037098;2037100;2037102;2037104;2037106;2037118;2037120;2037122;2037126;2037128;2037130;2037132;2037134;2037136;2037140;2037142;2037144;2037146;2037148;2037150;2037152;2037154;2037156;2037160;2037162;2037164;2037166;2037168;2037170;2037180;2037182;2037184;2037186;2037190;2037192;2037194;2037196;2037198;2037200;2037202;2037204;2037206;2037208;2037212;2037214;2037218;2037222;2037234;2037236;2037238;2037240;2037242;2037244;2037246;2037248;2037250;2037252;2037254;2037256;2037258;2037260;2037262;2037264;2037276;2037278;2037280;2037282;2037284;2037286;2037288;2037290;2037292;2037294;2037296;2037298;2037300;2037302;2037304;2037306;2037308;2037310;2037312;2037314;2037318;2037320;2037322;2037324;2037326;2037328;2037330;2037332;2102536;2102538;2102540;2102542;2102548;2102550;2102552;2102554;2102556;2102562;2102564;2102566;2107147;2148947;2176605;2178179;2190599;2219020;5021048 ATP6AP1__4395;DXS7072;DXS7587;DXS9771;ECD00841;ECD01088;ECD01110;ECD01231;ECD01433;ECD02155;ECD02625;ECD02847;ECD04436;ECD04849;ECD04850;ECD04987;ECD06265;ECD06788;ECD07050;ECD07086;ECD07189;ECD07225;ECD07324;ECD07603;ECD08010;ECD09271;ECD09692;ECD09883;ECD10047;ECD13703;ECD16655;ECD17986;ECD21139;ECD23405;ECD23475;ECD23672;ECD23906;G65808;G65809;G67208;G67209;G67210;G67211;GDI1;GDI1__6799;REN89522;REN89523;REN89524;REN89525;REN89526;REN89527;REN89528;REN89529;REN89530;REN89531;REN89532;REN89533;REN89534;REN89535;REN89536;REN89537;REN89538;REN89539;REN89540;REN89541;REN89542;REN89543;REN89544;REN89545;REN89546;REN89547;REN89548;REN89549;REN89550;REN89551;REN89552;REN89553;REN89554;REN89555;REN89556;REN89557;REN89558;REN89559;REN89560;REN89561;REN89562;REN89563;REN89564;REN89570;REN89571;REN89572;REN89574;REN89575;REN89576;REN89577;REN89578;REN89579;REN89581;REN89582;REN89583;REN89584;REN89585;REN89586;REN89587;REN89588;REN89589;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;REN89601;REN89602;REN89603;REN89604;REN89606;REN89607;REN89608;REN89609;REN89610;REN89611;REN89612;REN89613;REN89614;REN89615;REN89617;REN89618;REN89620;REN89622;REN89628;REN89629;REN89630;REN89631;REN89632;REN89633;REN89634;REN89635;REN89636;REN89637;REN89638;REN89639;REN89640;REN89641;REN89642;REN89643;REN89649;REN89650;REN89651;REN89652;REN89653;REN89654;REN89655;REN89656;REN89657;REN89658;REN89659;REN89660;REN89661;REN89662;REN89663;REN89664;REN89665;REN89666;REN89667;REN89668;REN89670;REN89671;REN89672;REN89673;REN89674;REN89675;REN89676;REN89677;RH68908;RH77733;SGC34656;STS-M78866;WI-9327;sWXD2362;stSG604043;stSG604044;stSG604045;stSG604046;stSG604053;stSG604055;stSG604056;stSG604057;stSG604058;stSG604062;stSG604067;stSG604068 16A;ATP6IP1;ATP6S1;Ac45;CF2;MGC129781;VATPS1;XAP-3;XAP3 ATPase, H+ transporting, lysosomal interacting protein 1;H-ATPase subunit;OTTHUMP00000032115;OTTHUMP00000196463;V-ATPase Ac45 subunit;V-ATPase S1 accessory protein;V-ATPase subunit S1;V-type proton ATPase subunit S1;protein XAP-3;vacuolar proton pump subunit S1 APPROVED protein-coding ENSG00000071553 868 02184 300197 REVIEWED 1346001 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008] X X p11.4 40325160 40350833 + 40440216 40465889 + 1580863;5132617;6480464;7240710 18376005 21420935;12045255;15746149;16374430;19513539;19131936;18698213;17494887;17082479;16807542;16401765;16303743;15489334;12477932;11782983;11590366;10931946;9556572;20385187;23277024;19580809;19615732;19641301;19733264;20093472;21103663;22930161;21316680;21228785;21270819;20702505;21346687;22025376;21997900;21139048;21890473;21906983;23045457;23111329;21963094;22810585;23000965;22721990 10159 B7Z1I9;B7Z413;B7Z9I3;H0Y750;H7C240;H7C3E1;Q9UG89 ABBA01046796;ABBA01046797;AC092473;AF109363;AF248966;AF291814;AF354120;AK075382;AK293510;AK296614;AK297007;AK297760;AK314633;AK315948;AL049929;AMYH01022224;AY038990;AY429341;BC010395;BC084541;CH471141;NG_008874;NM_005765;Y17975 AAG44564;AAH10395;AAH84541;AAK83467;AAL11062;AAM47531;AAQ13511;AAR06910;BAC11582;BAH11525;BAH12399;BAH12473;BAH12660;BAH14319;CAA76984;CAB43210;EAW59424;NP_005756;O75787 Hs.495960 1334674;1336817;1336934;1338420;1674470;2140079;2178297;7187613 DXS1069;DXS8085;DXS8090;DXS8102;RH169;SHGC-31934;WI-21507 APT6M8-9;ATP6IP2;ATP6M8-9;ELDF10;HT028;M8-9;MGC99577;MRXE;MSTP009;XMRE ATPase H(+)-transporting lysosomal-interacting protein 2;ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9;ATPase, H+ transporting, lysosomal interacting protein 2;ER-localized type I transmembrane adaptor;N14F;OTTHUMP00000025770;OTTHUMP00000025771;OTTHUMP00000025773;OTTHUMP00000025774;V-ATPase M8.9 subunit;embryonic liver differentiation factor 10;renin receptor;renin/prorenin receptor;vacuolar ATP synthase membrane sector-associated protein M8-9;vacuolar proton ATP synthase membrane sector associated protein M8-9 APPROVED protein-coding ENSG00000182220 18305 06454 300423;300556 REVIEWED 1347369 ATP6V0CP1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1 17 17 17 p13.2 4775149 4775581 - 4706203 4706856 - 4759757 4760694 - 100132978 ABBA01054777;AC109333;AC233723;AMYH01008043;NG_009542;NG_028005 ATCD1 APPROVED pseudo 31323 VALIDATED 5131597 ATP6V0CP3 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 3 6 6 6 p21.1 44247224 44248184 + 42802950 42803933 + 42695314 42695932 + 442211 ABBA01050724;AL049843;AMYH01016306;BQ447003;NR_037141 Hs.563394 1850979 RH66735 pseudo 40001 VALIDATED 1312856 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008] 7 7 q34 138041579 138133481 - 138391039 138482941 - 1599383;1580863;6480464;6907045;7240710 10973252 17360703;18632794;12414817;12649290;15800125;14638902;19366680;16344560;14702039;14580332;12788495;12690205;12477932;11836511;10600682;10577919;10440860;10340843;10224039;10221984;9442887;9210392;14597263;22460948;21326311;20221774;14675051;19639346;20379614;17662945;2874839;21963094;22093743 50617 Q96N91;Q9HBG4 AACC02000025;ABBA01001173;ABBA01001174;ABBA01001175;ABBA01001176;ABBA01001177;ABBA01001178;ABBA01001179;AC018663;AC020983;AF245517;AF249874;AK055789;AK292945;AMYH01017970;AMYH01017971;AMYH01017972;AMYH01017973;BC109304;BC109305;CH236950;CH471070;DA857655;DB230144;HI574138;HI574140;HI574142;NG_008145;NM_020632;NM_130840;NM_130841 AAG11415;AAI09305;AAI09306;BAB71014;BAF85634;CBX47558;CBX47559;CBX47560;EAL24043;EAW83892;EAW83893;EAW83894;EAW83895;EAW83896;EAW83897;NP_065683;NP_570855;NP_570856;Q9HBG4 Hs.98967 1679756;1789474;1789540;2144771;2183540 D7S1636;D7S3183;D7S3193;GDB:1317754;RH92345 A4;ATP6N1B;ATP6N2;MGC130016;MGC130017;RDRTA2;RTA1C;RTADR;STV1;VPH1;VPP2 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B;ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD);H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B;OTTHUMP00000211501;OTTHUMP00000211502;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 4;vacuolar proton pump 116 kDa accessory subunit;vacuolar proton pump, subunit 2;vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform APPROVED protein-coding ENSG00000105929 866 05576 602722;605239 REVIEWED 1605737 ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21 37864388 37928123 + 40610862 40674597 + 6480464;6907045 12649290;18505059;17081065;15489334;14597263;14580332;12788495;12643545;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8125298;7774924;1704894;17662945;2874839;17360703;20038947;18029348;22708544;21674799;22939629;21139048;21890473;21906983;21558123 535 B7Z2A9;B7Z641;F5H1T6;F5H569;K7ELZ6;K7EM24;K7EN36;K7ENA1;K7EPG4;K7EQW2;K7ERA0;K7ERA6;Q53ET5;Q53X12;Q5CZH6;Q93050 ABBA01006422;ABBA01006423;AC067852;AC107993;AK223554;AK294512;AK294789;AK295682;AK299784;AK316305;AL096733;AL137683;AMYH01008394;BC032398;BX648978;CH471152;CR627443;L78933;NM_001130020;NM_001130021;NM_005177;U18920;Z71460 AAA69700;AAH32398;AAL77442;BAD97274;BAH11795;BAH11885;BAH12153;BAH13127;BAH14676;CAA96077;CAB70874;CAH10528;CAI56709;EAW60830;EAW60831;NP_001123492;NP_001123493;NP_005168;Q93050 Hs.463074 1688273;1769330;1795406;2136195 2194;ATP6V0A1_708;D17S1365E;RH92453 ATP6N1;ATP6N1A;DKFZp781J1951;Stv1;VPP1;Vph1;a1 ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD);ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD);H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1;V-ATPase 116 kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 1;clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit;vacuolar adenosine triphosphatase subunit Ac116;vacuolar proton pump subunit 1;vacuolar proton pump, subunit 1;vacuolar proton translocating ATPase 116 kDa subunit A;vacuolar-type H(+)-ATPase 115 kDa subunit APPROVED protein-coding ENSG00000033627 865 01886 192130 REVIEWED 6480947 ATP6V0E1P1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 1 5 132284185 132284407 + 100874502 ABBA01068792;AC010240;AMYH01015617;NG_032378 pseudo 41935 INFERRED 6480944 ATP6V0E1P2 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2 3 41900845 41901084 - 100874503 ABBA01024779;AC104305;AMYH01013110;NG_032379 pseudo 41936 INFERRED 1317997 ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human counterpart of yeast VMA16. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p32.3 42724136 42727506 + 44213189 44216559 + 44440602 44443972 + 1580863;6480464;6907045 9653649;17576770;15489334;15249206;14597263;14580332;12890556;12788495;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;17662945;2874839 533 E9PKB6;E9PMR1;E9PNL3;E9PNU0;H0YCC5;Q99437 AB045777;ABBA01050936;AI439545;AL357079;AMYH01000563;BC000423;BC005876;BC042664;BC053601;BG475609;BG831921;BI770034;BT007151;CH471059;CR456972;D89052;L05089;NM_001039457;NM_004047 AAC15853;AAH00423;AAH05876;AAP35815;BAA13753;BAC02927;CAG33253;EAX07066;EAX07067;EAX07068;EAX07069;NP_001034546;NP_004038;Q99437 Hs.596514 1680619;1695000;1730267;2124550;7184711;7187617 D1S280E;G44713;HSCZOA042;RH67811 ATP6F;HATPL;VMA16 H(+)-transporting two-sector ATPase, subunit F;OTTHUMP00000010012;OTTHUMP00000231252;OTTHUMP00000231253;OTTHUMP00000231254;OTTHUMP00000231257;V-ATPase 21 kDa proteolipid subunit;V-ATPase subunit c'';V-type proton ATPase 21 kDa proteolipid subunit;vacuolar ATP synthase 21 kDa proteolipid subunit;vacuolar proton pump 21 kDa proteolipid subunit;vacuolar proton pump, 21 kDa subunit APPROVED protein-coding ENSG00000117410 861 04759 603717 REVIEWED 6480943 ATP6V0E1P4 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4 1 48015868 48016422 + 100874504 ABBA01050816;AL356458;AMYH01000595;NG_032380 pseudo 41938 INFERRED 1320849 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009] 12 12 q24.31 122762818 122810394 + 124196865 124246302 + 1580863;6480464;6907045;7240710 16415858;2247090;19321599;18157129;17295899;17081983;16344560;16113235;15373763;15358640;15301855;14702039;14597263;14580332;12788495;12477932;11836511;19171192;19401719;20669186;20153292;17662945;2874839;21178005;18029348;21963094;23000965;21139048;21890473;21906983;22479202;19322201;20301755;22773132;22939629;16027165;22053931 23545 F5GX48;F5H5F3;F5H847;Q9Y487 ABBA01060393;ABBA01060394;AC117503;AF112972;AK056800;AK289391;AK298778;AMYH01004841;BC000826;BC022300;BC068531;BG106215;BG167832;BG759946;BI562012;BQ050095;BX328381;CB960860;CD654920;CH471054;DA737084;NG_012743;NM_012463;R51339 AAD04632;AAH22300;AAH68531;ADR82758;BAF82080;BAG60919;EAW98434;EAW98436;NP_036595;Q9Y487 Hs.25786 1665887;1691168;2106779;5022578 D1S1423;GC24S19;RH92322;WI-13960 A2;ARCL;ARCL2A;ATP6A2;ATP6N1D;J6B7;RTF;STV1;TJ6;TJ6M;TJ6S;VPH1;WSS A2V-ATPase;OTTHUMP00000239279;V-type proton ATPase 116 kDa subunit a isoform 2;lysosomal H(+)-transporting ATPase V0 subunit a2;regeneration and tolerance factor;v-ATPase 116 kDa;v-type proton ATPase 116 kDa subunit a;vacuolar proton translocating ATPase 116 kDa subunit a APPROVED protein-coding ENSG00000185344 18481 16521 219200;278250;611716 REVIEWED 5132555 ATP6V0E1P3 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3 2 2 2 p22.3 33665810 33666054 + 33680613 33680857 + 33827050 33827852 + 100133262 ABBA01074909;AC017050;AMYH01010241;NG_029004 pseudo 41937 INFERRED 731892 ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010] 16 16 p13.3 2503954 2510220 + 2563727 2570224 + 1300048;1580863;6480464;6907045 1709739;11543633;19058789;15489334;15466867;14597263;14580332;12788495;12477932;12438748;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8741845;8250920;7636472;1532310;16169070;17662945;2874839;16415858;19299075;19875448;18298843;16751776;21087195;22829766;21433058;21988832;22991218 527 H3BMY0;H3BNI4;P27449 AB046575;ABBA01030251;AC093525;AMYH01007058;AW161158;BC004537;BC007389;BC007759;BC009290;BI548787;BT007155;CH471112;CR541930;CR541951;M62762;NM_001198569;NM_001694 AAA60039;AAH04537;AAH07389;AAH07759;AAH09290;AAP35819;ADZ15776;ADZ15795;BAC06442;CAG46728;CAG46749;EAW85501;NP_001185498;NP_001685;P27449 Hs.389107 1729612;1729614;1740165;1748611;1768279;1772891;1850979;2172544;2182296;5126656 A009J05;D16S283;D16S284;D16S3014;RH66407;RH66735;RH69157;SHGC-110273;SHGC-32888;SHGC-60646 ATP6C;ATP6L;ATPL;VATL;VPPC;Vma3 H(+)-transporting two-sector ATPase, 16 kDa subunit;OTTHUMP00000159089;V-ATPase 16 kDa proteolipid subunit;V-ATPase subunit c;V-type proton ATPase 16 kDa proteolipid subunit;vacuolar ATP synthase 16 kDa proteolipid subunit;vacuolar H+ ATPase proton channel subunit;vacuolar proton pump 16 kDa proteolipid subunit;vacuolar proton pump, 16 kDa subunit APPROVED protein-coding ENSG00000185883 855 00162 108745 REVIEWED 1315777 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 8 8 8 83305507 83360717 + 87180255 87235570 + 87111139 87166454 + 1300048;1580863;6480464;6907045 18752060;14702039;14597263;14580332;12788495;12477932;12384298;11836511;17662945;2874839;15800125;19818731;22379998 245972 E5RHJ7;E5RIR3;Q8N8Y2 ABBA01037356;AC023194;AC084128;AK096027;AMYH01018855;AY079172;BC065207;CH471060;NM_152565 AAH65207;AAL87000;BAC04679;EAW91631;EAW91632;NP_689778;Q8N8Y2 Hs.436360 2110273;5017643 ATP6V0D2;ATP6V0D2__4396 ATP6D2;FLJ38708;VMA6 OTTHUMP00000224495;V-ATPase subunit d 2;V-type proton ATPase subunit d 2;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2;vacuolar proton pump subunit d 2 protein-coding ENSG00000147614 18266 16522 VALIDATED 1350958 ATP6V0E1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168443924 168495366 + 172343369 172394506 + 172410763 172461900 + 1580863;6480464;6907045 14597263;9556572;17350184;17576770;15906478;15489334;14970230;14580332;12788495;12477932;12163484;11836511;10440860;10340843;10224039;10221984;9442887;9210392;17662945;2874839 8992 E5RHL5;J3KN48;O15342 ABBA01044032;ABBA01044033;ABBA01044034;AC008429;AI198465;AK312068;AMYH01015820;BC119714;BC119715;BF691381;CH471062;CR456856;CR542131;NM_003945;Y15286 AAI19715;AAI19716;BAG35004;CAA75571;CAG33137;CAG46928;EAW61417;EAW61418;NP_003936;O15342 Hs.484188 1338235;1725815;2153864;2179618;2181528 D1S2666;G61995;L28302;RH47638;STS-H56007 ATP6H;ATP6V0E;M9.2;Vma21;Vma21p H(+)-transporting two-sector ATPase, subunit H;OTTHUMP00000161073;OTTHUMP00000223525;V-ATPase 9.2 kDa membrane accessory protein;V-ATPase H subunit;V-ATPase M9.2 subunit;V-ATPase subunit e 1;V-type proton ATPase subunit e 1;vacuolar ATP synthase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit e 1;vacuolar proton-ATPase subunit M9.2 APPROVED protein-coding 863 04894 603931 REVIEWED 1604142 ATP6V0E2-AS1 ATP6V0E2 antisense RNA 1 7 7 7 q36.1 144233999 144240162 - 149200898 149201884 - 149564783 149570951 - 16344560;12690205;12477932 401431 AACC02000041;ABBA01033639;AC004877;AC093458;AMYH01018126;AW452405;BC023225;BC028735;CH471146;DA083383;NR_027040 EAL24438;EAW80024 Hs.556998 1658457;1661539;1676194;1716189;1850653;2135315;2154250;2162741 D7S2075E;D7S2637;GDB:1318310;RH121117;RH48950;RH65674;RH92234;WIAF-1599 APPROVED miscrna ENSG00000204934 44180 17391 VALIDATED 1606137 ATP6V0E2 ATPase, H+ transporting V0 subunit e2 Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008] 7 7 7 q36.1 144239268 144246884 + 149200990 149208720 + 149570057 149577787 + 6480464;6907045 17350184;16303743;14702039;12477932;9847074;17662945;2874839 155066 E9PAS2;F8WDM2;Q8N7I8 AA912295;AACC02000041;ABBA01033639;ABBA01033640;AC093458;AF452639;AK057700;AK094602;AK098362;AK172725;AK290086;AMYH01018126;AY037164;BC015899;BX640846;CH471146;DB544557;DQ989009;DQ995344;NM_001100592;NM_145230 AAK67647;AAP97693;AAQ96859;ABK76305;ABK88279;BAC05292;BAF82775;CAE45916;EAW80020;EAW80021;EAW80022;EAW80023;NP_001094062;NP_660265;Q8NHE4 Hs.698060 1661539;1770532;1790539;1850117 A002C21;GDB:1318310;HSC185_(GAP_113_G);WI-15316 ATP6V0E2L;C7orf32 ATPase, H+ transporting V0 subunit E isoform 2-like;ATPase, H+ transporting V0 subunit E2-like;H+-ATPase e2 subunit;OTTHUMP00000212608;OTTHUMP00000212609;OTTHUMP00000212610;OTTHUMP00000212611;V-ATPase subunit e 2;V-type proton ATPase subunit e 2;lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2;vacuolar proton pump subunit e 2;vacuolar proton-ATPase subunit APPROVED protein-coding ENSG00000171130 21723 12920 611019 VALIDATED 1314615 ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008] 16 16 q22.1 66029418 66072590 - 67471917 67515089 - 1300048;6480464;6907045 11118322;18752060;19285986;19165527;16713569;15489334;14702039;14597263;14580332;12788495;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8889548;8250920;2903164;19913121;20628086;17662945;2874839;22990118;21674799;22939629;16196087;22318606;21139048;21890473;21906983;22505724 9114 F5GYQ1;F8WEN9;H3BPS0;H3BQB4;H3BQJ1;H3BSG7;H3BTB4;H3BTB5;H3BUQ0;J3QL14;P61421;R4GN72 ABBA01025437;ABBA01025438;AC009061;AK125522;AK128641;AK300570;AK301630;AK313035;AMYH01007747;BC008861;BI552108;BM677562;CH471092;L05087;NG_011482;NM_004691;X71490 AAC15852;AAH08861;ABM84196;ABM87600;BAG35868;BAH13305;BAH13524;CAA50591;EAW83135;EAW83136;NP_004682;P61421 Hs.106876 1655578;1678361;1794062;1794466;1794468;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279;PMC310777P2;PMC314306P7;PMC314306P8;RH11782;RH65050 ATP6D;ATP6DV;FLJ43534;P39;VATX;VMA6;VPATPD 32 kDa accessory protein;ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D;H(+)-transporting two-sector ATPase, subunit D;OTTHUMP00000174810;V-ATPase 40 KDa accessory protein;V-ATPase AC39 subunit;V-ATPase subunit d 1;V-ATPase, subunit D;V-type proton ATPase subunit d 1;atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1;vacuolar proton pump subunit d 1 APPROVED protein-coding ENSG00000159720 13724 06121 607028 REVIEWED 1321627 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008] 2 2 p13.1 71016506 71046069 + 71162998 71192561 + 1580863;1599372;6480464;6907045 9916796 12414817;16433694;19008710;18180394;17216496;16344560;14702039;14597263;14580332;12788495;12579397;12500243;12477932;11836511;10915794;10748165;10440860;10340843;10224039;10221984;9442887;9210392;8889548;8849440;8597961;8125298;7945239;2527371;12651853;17662945;2874839;19478356;16928804;19639346;20233014;19913121;20622307;20628086;14585495;21674799;22939629;20805693 525 C9J5E3;C9JL73;C9JNS9;C9JTN0;C9JZ02;P15313 ABBA01075545;AC007040;AK127853;AK223151;AK291121;AK301542;AK313194;AMYH01010425;AU126647;BC035978;BC063411;CA944873;CH471053;DA845716;M25809;NG_008016;NM_001692 AAA36498;AAH63411;BAD96871;BAF83810;BAG36011;BAG63039;EAW99790;EAW99791;NP_001683;P15313 Hs.64173 1779084;2148892;2189427 MARC_5799-5800:991939724:4;SHGC-14337;STS-AA019900 ATP6B1;MGC32642;RTA1B;VATB;VMA2;VPP3 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness);H(+)-transporting two-sector ATPase, 58kD subunit;H+-ATPase beta 1 subunit;OTTHUMP00000160125;OTTHUMP00000204311;V-ATPase B1 subunit;V-ATPase subunit B 1;V-type proton ATPase subunit B, kidney isoform;atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness);endomembrane proton pump 58 kDa subunit;vacuolar proton pump 3;vacuolar proton pump subunit B 1;vacuolar proton pump, subunit 3 APPROVED protein-coding ENSG00000116039 853 01887 192132 REVIEWED 1351681 ATP6V1E1P1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1 1 1 1 p34.2 41650890 41651570 + 43141451 43142170 + 43368903 43369583 + 343515 ABBA01050970;AC099795;AMYH01000555;NG_016586 1666812;1744395 GDB:452644;WI-15321 ATP6EP1;ATP6V1EP1 APPROVED pseudo 859 INFERRED 1323585 ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008] 3 3 q13.31 114948598 115013593 + 113465866 113530905 + 1580863;6480464;6907045 8463241;19405953;19110265;17576770;15952740;15489334;14597263;14580332;12788495;12477932;11991713;11836511;11741979;10931946;10440860;10340843;10224039;10221984;9442887;9210392;7575517;20717956;17662945;2874839;21674799;22939629;22863883;18781797;21139048;21693764;21890473;21900206;21906983;21987572;19322201;19471022;21145461;22561749;22053931;22505724 523 B7Z1R5;C9JA17;C9JVW8;F8WDJ3;P38606 ABBA01061648;ABBA01061649;ABBA01061650;AC079944;AC108693;AF113129;AF339827;AK293804;AK295150;AK314779;AL514316;AMYH01013398;BC012169;BC013138;BT006672;CA435314;CH471052;DC350361;L09235;NM_001690 AAA83249;AAF14870;AAH13138;AAP35318;BAG37315;BAH11601;BAH11992;EAW79625;EAW79626;EAW79627;EAW79628;NP_001681;P38606 Hs.477155 1671201;1672133;1705310;1735280;2124331;5022450;5037552;5092796 A006E45;D10S275;D3S2929E;D8S2279;G32335;SHGC-77211;SHGC-78613;STS-H75776 ATP6A1;ATP6V1A1;HO68;VA68;VPP2;Vma1 ATPase, H+ transporting, lysosomal, subunit A1;H(+)-transporting two-sector ATPase, subunit A;H+-transporting ATPase chain A, vacuolar (VA68 type);OTTHUMP00000214746;V-ATPase 69 kDa subunit 1;V-ATPase A subunit 1;V-ATPase subunit A;V-type proton ATPase catalytic subunit A;vacuolar ATP synthase catalytic subunit A, ubiquitous isoform;vacuolar ATPase isoform VA68;vacuolar proton pump alpha subunit 1;vacuolar proton pump subunit alpha APPROVED protein-coding ENSG00000114573 851 06120 607027 REVIEWED 1343908 ATP6V1E1P2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2 18 24532165 24532468 - 100462844;532 ABBA01022568;AC023575;AMYH01008906;NG_026284;NG_029856 1744373 GDB:452617 ATP6EP2;ATP6V1EP2 APPROVED pseudo 860 INFERRED 1348896 ATP6V1E1P3 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3 12 12 12 q14.2 64397785 64398741 - 63018219 63018898 - 64731729 64732685 - 729435 ABBA01026608;AC135279;AMYH01004547;NG_009357 ATP6EL1;ATP6V1EL1 APPROVED pseudo 858 INFERRED 1354342 ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008] 2 2 2 10777001 10840382 + 10779226 10842687 + 10861775 10925236 + 1580863;6480464;6907045 16344560;16042619;15203218;14597263;14580332;12788495;12477932;12384298;11836511;20379614;17662945;2874839;23247143 245973 Q8NEY4 ABBA01015627;ABBA01015628;ABBA01015629;ABBA01015630;ABBA01015631;AC092687;AK127836;AK292952;AMYH01010106;AY039759;BC012142;BX358022;CD636943;CH471053;DB230703;NM_001039362;NM_144583 AAH12142;AAK83464;AAY24069;ABM83181;ABW03480;BAF85641;EAX00951;EAX00952;NP_001034451;NP_653184;Q8NEY4 Hs.580464 2156296;2160682;2163822;2166235;2178708;5113908 G30227;RH11818;RH70399;RH94195;SGC31703;WI-18107 ATP6C2;VMA5 OTTHUMP00000115522;OTTHUMP00000200400;V-ATPase C2 subunit;V-ATPase subunit C 2;V-type proton ATPase subunit C 2;atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2;vacuolar proton pump subunit C 2 APPROVED protein-coding ENSG00000143882 18264 16523 REVIEWED 732120 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008] 8 8 p21.3 20098984 20123487 + 20054704 20079207 + 1300048;1580863;6480464;6907045 11836511;10440860;10340843;10224039;10221984;9442887;9210392;7945239;7706273;1373501;2145275;17081065;15489334;14702039;14597263;14580332;12788495;12670943;12643545;12477932;20889312;18029348;20038947;20379614;20381070;17662945;2874839;22863883;21674799;22939629;21139048;21890473;21906983 526 E5RGH6;H0YAT8;H0YC04;H0YC45;P21281 AB208806;ABBA01021549;AC025853;AK127443;AK294163;AK298819;AK312372;AMYH01018559;BC003100;BC007309;BC030640;CH471080;HI574180;L35249;M60346;NM_001693;X62949;Z37165 AAA35610;AAA58661;AAH03100;AAH07309;AAH30640;ABM82763;ABM85949;BAD92043;BAG35290;BAG57486;BAG60951;CAA44721;CAA85522;CBX47579;EAW63758;EAW63759;NP_001684;P21281 Hs.295917 1661966;1723391;1771141;2107867;5114923 ATP6V1B2_8221;D8S1949;RH118507;RH69321;WI-19010 ATP6B1B2;ATP6B2;HO57;VATB;VPP3;Vma2 H+ transporting two-sector ATPase;OTTHUMP00000161707;V-ATPase B2 subunit;V-ATPase subunit B 2;V-type proton ATPase subunit B, brain isoform;atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2;endomembrane proton pump 58 kDa subunit;vacuolar H+-ATPase 56,000 subunit;vacuolar proton pump subunit B 2 APPROVED protein-coding ENSG00000147416 854 06088 606939 REVIEWED 1348011 ATP6V1G1P1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 14 14 14 q32.33 86181251 86182739 - 106250833 106252309 - 106250833 106252309 - 319116 ABBA01074082;AL122127;AMYH01006100;NG_001019 ATP6V1GP1 APPROVED pseudo 19816 VALIDATED 1322350 ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100220060 100272082 + 104102424 104154461 + 104033248 104085285 + 1300048;1580863;6480464;6907045 16415858;8250920;16344560;15489334;14702039;14597263;14580332;12890556;12788495;12477932;11836511;11752456;10440860;10340843;10224039;10221984;9442887;9210392;2147024;17662945;2874839;20379614;17207965;20819778;21674799;22939629;22863883;21526910;21139048;21890473;21906983 528 E7EV59;P21283 AA242944;ABBA01037628;ABBA01037629;AF363578;AK000064;AK090702;AK298617;AK308632;AL707882;AMYH01018944;AP003550;AU137773;AV649881;AW505309;BC010960;BI821321;BX648079;CH471060;J05682;NM_001695;X69151 AAA36803;AAH10960;AAL50383;ACE86916;ACE87603;ADQ31698;BAH12829;CAA48903;EAW91859;EAW91860;NP_001686;P21283 Hs.86905 1778623;2123959;2180290;2181338;2219022 ATP6V1C1__4398;D8S1610;RH78580;SHGC-2582;STS-N33243 ATP6C;ATP6D;FLJ20057;VATC;Vma5 H(+)-transporting two-sector ATPase, subunit C;H+ -ATPase C subunit;H+-transporting ATPase chain C, vacuolar;OTTHUMP00000227403;OTTHUMP00000227404;OTTHUMP00000227405;OTTHUMP00000227406;V-ATPase C subunit;V-ATPase subunit C 1;V-type proton ATPase subunit C 1;subunit C of vacuolar proton-ATPase V1 domain;vacuolar ATP synthase subunit C;vacuolar proton pump C subunit;vacuolar proton pump subunit C 1;vacuolar proton pump, 42-kD subunit;vacuolar proton-ATPase, subunit C, VI domain APPROVED protein-coding ENSG00000155097 856 04371 603097 REVIEWED 1605148 ATP6V1G1P2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2 8 8 8 q11.21 44088910 44089946 + 48224788 48227012 - 48105626 48105972 - 100128541 ABBA01018447;AC120036;AMYH01018700;NG_022387 1735824 D8S1428E ATP6V1GP2 APPROVED pseudo 29359 INFERRED 3051015 ATP6V1G1P3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3 9 9 110188024 110188301 + 139674390 139674667 + 100462838 ABBA01022721;AL355987;AMYH01021874;NG_021680 pseudo 37670 INFERRED 3051013 ATP6V1G1P4 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4 10 10 35212574 35212905 + 35447234 35447565 + 100462843 ABBA01033345;AL157783;AMYH01002235;NG_022168;NG_029065 pseudo 37671 INFERRED 3051014 ATP6V1G1P5 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 5 5 146780369 146780722 + 150698986 150699339 + 100462840 ABBA01026263;AC008385;AMYH01015711;NG_021901 pseudo 37672 INFERRED 6480950 ATP6V1G1P7 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7 13 104096370 104097918 - 100874514 ABBA01027066;AL354763;AMYH01005344;NG_032360 pseudo 39852 INFERRED 3077590 ATP6V1G1P6 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 5 5 q14.1 73410887 73411255 + 77518079 77518447 + 100462732 ABBA01061993;AC112197;AMYH01015431;NG_021444 1705370 SHGC-83541 pseudo 37673 INFERRED 1348353 ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008] 14 14 14 q23-q24.2 47863642 47885645 - 66874342 66896344 - 67804581 67826720 - 1580863;6480464;6907045 18752060;15489334;14702039;14597263;14580332;12788495;12477932;11913976;11836511;11435709;10931946;10440860;10340843;10224039;10221984;9210392;9442887;17207965;19913121;20628086;16344560;8889548;17662945;2874839;21674799;22939629;21139048 51382 G3V2S6;G3V2V6;G3V341;G3V3T8;G3V559;G3V5S7;H0YJ55;H0YJH8;H0YJS0;Q9Y5K8 ABBA01023713;AF077614;AF100741;AF104629;AF145316;AK001155;AK315784;AL139785;AMYH01005812;AMYH01005813;BC001411;BC025373;BC031002;BF669634;BG236185;BU726615;CH471061;DB039102;NM_015994 AAD33953;AAD40384;AAG30726;AAG43047;AAH01411;AAH25373;AAH31002;ADQ32056;BAA91523;BAG38130;EAW80931;EAW80932;NP_057078;Q9Y5K8 Hs.272630 1722233;1744205;2152022;2163968;2175730;2178836 A002U41;G36025;G60022;GDB:437525;RH11239;RH48795 ATP6M;VATD;VMA8 ATPase, H+ transporting lysosomal, member M;ATPase, H+ transporting, lysosomal (vacuolar proton pump);H(+)-transporting two-sector ATPase, subunit M;OTTHUMP00000245545;OTTHUMP00000245549;OTTHUMP00000245550;OTTHUMP00000245551;OTTHUMP00000245552;V-ATPase 28 kDa accessory protein;V-ATPase D subunit;V-ATPase subunit D;V-type proton ATPase subunit D;vacuolar ATP synthase subunit D;vacuolar H-ATPase subunit D;vacuolar proton pump D subunit;vacuolar proton pump delta polypeptide;vacuolar proton pump subunit D;vacuolar proton-ATPase subunit D APPROVED protein-coding 13527 16524 609398 REVIEWED 1347206 ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008] 22 22 q11.1 16454902 16491588 - 18074902 18111588 - 1580863;6480464;6907045 14667819;8250920;16196101;16169070;16155006;15489334;14597263;14580332;12788495;12477932;12163484;12036578;11836511;11560919;11399750;11381032;10915794;10748165;10440860;10340843;10224039;10221984;9442887;9405660;9210392;8004105;1533641;17662945;2874839;22395867;21674799;21832049;22863883;22939629;21139048;21900206;21906983;22505724 529 C9J8H1;P36543;Q53Y06 ABBA01001440;ABBA01001441;ABBA01001442;ABBA01001443;ABBA01001444;AC004019;AC006285;AC007666;AI565049;AK294623;AK312394;AK315941;AMYH01012435;AW406069;BC004443;BE735148;BI546032;BI597419;BQ888820;BT007128;CH471193;CK005516;CR456385;NG_009214;NM_001039366;NM_001039367;NM_001696;X71491;X76228 AAH04443;AAP35792;ACE86484;ACE87165;BAG35311;BAG57804;BAH14312;CAA50592;CAA53814;CAG30271;CAK54374;CAK54673;EAW57762;EAW57763;EAW57764;EAW57765;NP_001034455;NP_001034456;NP_001687;P36543 Hs.517338 1666812;1675696;1694628;1744373;1744395;1756533;1779037;2218272;5024384 ATP6V1E1_4399;G43351;GDB:452617;GDB:452644;RH1695;RH79089;SHGC-143563;SHGC-36174;WI-15321 ATP6E;ATP6E2;ATP6V1E;P31;Vma4 H(+)-transporting two-sector ATPase, 31kDa subunit;H+-transporting ATP synthase chain E, vacuolar;OTTHUMP00000065606;OTTHUMP00000196213;OTTHUMP00000214152;OTTHUMP00000214153;V-ATPase 31 kDa subunit;V-ATPase subunit E 1;V-ATPase, subunit E;V-type proton ATPase subunit E 1;vacuolar proton pump subunit E 1 APPROVED protein-coding ENSG00000131100 857 00163 108746 REVIEWED 1323263 ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 2 2 2 p21 46577658 46585772 - 46592490 46600600 - 46738986 46747096 - 1580863;6480464;6907045 15815621;15489334;14702039;14597263;14580332;12788495;12477932;12036578;11836511;10748165;17207965;17662945;2874839;21906983 90423 Q96A05 AB074759;ABBA01075137;AC018682;AK058055;AMYH01010315;BC008981;BC034808;BG717423;CH471053;NM_080653 AAH08981;AAH34808;AAY14833;ADQ31586;BAB71643;BAC00847;EAX00253;NP_542384;Q96A05 Hs.659656 ATP6E1;ATP6EL2;ATP6V1EL2;MGC9341;VMA4 OTTHUMP00000159034;V-ATPase subunit E 2;V-type proton ATPase subunit E 2;atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2;vacuolar proton pump subunit E 2;vacuolar-type proton-translocating ATPase subunit E1 protein-coding ENSG00000250565 18125 16525 VALIDATED 1320793 ATP6V1G1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008] 9 9 9 q32 87997647 88008806 + 116389815 116400973 + 117349994 117361152 + 1298632;1580863;6480464;6907045 9653160 9210392;16189514;16169070;15489334;14597263;14580332;12788495;12477932;12384298;11836511;11042152;10440860;10340843;10224039;10221984;9442887;16751776;17207965;17662945;2874839;17360703;22863883;21674799;21832049;22939629;21139048 9550 O75348 ABBA01042665;AF038954;AI092246;AL160275;AMYH01021674;BC003564;BC008452;BF692207;BI596632;CH471090;CR456971;CR542237;NM_004888 AAC39868;AAH08452;ADQ32411;CAG33252;CAG47033;EAW87424;EAW87425;NP_004879;O75348 Hs.388654 1681544 RH98627 ATP6G;ATP6G1;ATP6GL;ATP6J;DKFZp547P234;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J;OTTHUMP00000022758;V-ATPase 13 kDa subunit 1;V-ATPase subunit G 1;V-type proton ATPase subunit G 1;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1;vacuolar ATP synthase subunit M16;vacuolar H(+)-ATPase subunit G 1;vacuolar proton pump subunit G 1;vacuolar proton pump subunit M16 APPROVED protein-coding 864 06294 607296 REVIEWED 1351850 ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008] 7 7 q32 128290134 128293138 + 128502857 128505903 + 631896;1580863;6480464;6907045 8621738 8581736;18752060;15489334;14597263;14580332;12788495;12690205;12477932;11836511;10440860;10340843;10224039;10221984;9442887;9210392;8012384;16169070;8889548;17662945;2874839;19723111;22863883;22939629;21139048;21890473;21906983;22053931;22505724 9296 A4D1K0;Q16864 AACC02000035;ABBA01057652;AC025594;AK312214;AMYH01017924;BC104230;BC104231;BC107854;BG724326;BU683155;BU956696;CH236950;CH471070;CR456896;D49400;DB499437;NM_001198909;NM_004231;Z55117;Z61564 AAI04231;AAI04232;AAI07855;BAA08392;BAG35147;CAG33177;EAL24110;EAW83692;EAW83693;NP_001185838;NP_004222;Q16864 Hs.78089 1667669;1736316;2176542;2217050;5017560;5024147 ATP6V1F;ATP6V1F_3928;D12S1251E;D12S1957;G23109;WI-14997 ATP6S14;MGC117321;MGC126037;MGC126038;VATF;Vma7 ATPase, vacuolar, 14 kD;H(+)-transporting two-sector ATPase, 14kD subunit;OTTHUMP00000212841;OTTHUMP00000212842;V-ATPase 14 kDa subunit;V-ATPase F subunit;V-ATPase subunit F;V-type proton ATPase subunit F;adenosinetriphosphatase 14k chain;vacuolar ATP synthase subunit F;vacuolar proton pump F subunit;vacuolar proton pump subunit F APPROVED protein-coding ENSG00000128524 16832 06198 607160 REVIEWED 5133074 ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 p 31497996 31514625 - 12477932;16101831;20967262;21912425;22197932 100532737 C9JRT2;F2Z307 ABBA01038080;ABBA01038081;AL662801;AL662847;AMYH01016217;BC004350;BX001040;BX248516;BX927320;CR753820;CR753864;CR753892;CR942185;CT009531;NR_037853 Hs.254042 1689300;1728965;5017795 CH241-100F12_SP6;D17H6S81E-1;RH1521 APPROVED miscrna ENSG00000254870 41999 VALIDATED 3051021 ATP7BP1 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 18 18 16805945 16806424 - 19998780 19999259 - 100462825 ABBA01022660;AC099849;AMYH01008881;NG_022482 pseudo 31014 INFERRED 1347481 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011] 6 6 p21.3 31620218 31622606 - 31512228 31514625 - 1302931;1580863;6480464;6907045 10202016 14574404;12788495;12665801;12477932;12384298;11836511;10440860;10340843;10224039;10221984;9442887;9210392;14667819;17081065;14597263;14580332;17662945;2874839;19851445;20379614;19913121;20628086;20854863;15342556;16101831;16971954;21139048 534 H0Y474;O95670;Q6NVJ2 AA401769;AB063177;AB088115;AB097672;AB102692;AB103621;AB202112;ABBA01038081;AL662801;AL662847;AMYH01016217;BA000025;BC047791;BC068023;BC119726;BC119727;BP195978;BX001040;BX248516;BX927320;C20601;CH471081;CR753820;CR753864;CR753892;CR942185;NG_012344;NM_001204078;NM_130463;NM_138282;Y14768 AAH68023;AAI19727;AAI19728;BAB63399;BAC00863;BAC54952;BAD74057;BAD74058;BAE78636;BAF31286;CAA75073;EAX03414;EAX03416;NP_001191007;NP_569730;NP_612139;O95670 Hs.249227 1682267;2218274 ATP6V1G2_4400;RH93173 ATP6G;ATP6G2;NG38;VMA10 ATPase, H+ transporting, lysosomal (vacuolar proton pump);ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G;H(+)-transporting two-sector ATPase, subunit G2;OTTHUMP00000029286;OTTHUMP00000165896;OTTHUMP00000215151;V-ATPase 13 kDa subunit 2;V-ATPase G subunit 2;V-ATPase subunit G 2;V-type proton ATPase subunit G 2;atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2;vacuolar ATP synthase subunit G 2;vacuolar proton pump G subunit 2;vacuolar proton pump subunit G 2 APPROVED protein-coding ENSG00000213760 862 06030 606853 REVIEWED 5128956 ATP8A2P1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 1 10 10 37307813 37324335 + 37537046 37553565 + 100422505 ABBA01033304;AL157387;AMYH01002259;NG_025483 pseudo 39662 INFERRED 5131587 ATP8A2P2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 2 13 33051311 33052987 + 100533851 ABBA01010141;AL137247;AL353665;AMYH01005021;NG_028886 pseudo 39663 INFERRED 6480957 ATP8A2P3 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 3 13 26688547 26728313 - 22159054 100874518 ABBA01007912;AL138966;AMYH01004982;NG_032522 pseudo 42641 INFERRED 10216 ATP7A ATPase, Cu++ transporting, alpha polypeptide This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans-Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked cutis laxa, and occipital horn syndrome. [provided by RefSeq, Oct 2011] X X q21.1 77052876 77192208 + 77166194 77305892 + 734621;1580863;6480464;7240710 10739752 21494555;10079817;10079814;9693104;9668166;9437429;9246006;9147644;8981948;8947031;8923001;8490659;8490647;8490646;7977350;7842019;7607665;7490081;9817923;15670166;10497213;16397091;11092760;9467005;8943055;10567439;12812980;19194885;19127267;18752978;18688737;18565219;18515074;18272047;18030470;17989919;17987894;17717039;17562324;17545667;17531189;17496194;17178205;17158254;17109627;17108763;16884690;16873374;16826513;16344560;16317117;16211579;16172131;16083905;16051599;15981243;15772651;15342556;15135234;14977365;14644159;14635105;14572476;12679332;12676902;12565888;12539963;12539960;12485192;12221109;11936860;11431706;11350187;11241493;11214319;11040994;10970802;10557326;10484781;10401004;10319589;15071553;20671235;19046832;19453293;19645496;19917612;20045993;20170900;14985388;19679821;20714486;20566629;21117320;22710939;22939629;21242307;21115196;14702039;21646353;22053931;21667063;22130675;22074552;21139048;22304828;20301586;22210628 538 B4DRW0;Q04656;Q762B6 AB117973;AB208828;ABBA01029575;ABBA01029576;ABBA01029577;ABBA01029578;ABBA01029579;ABBA01029580;ABBA01029581;ABBA01029582;ABBA01029583;ABBA01029584;ABBA01029585;ABBA01029586;ABBA01029587;ABBA01029588;ABBA01029589;AK096667;AK299449;AL356235;AL645821;AL772330;AMYH01022630;AY011418;BP364137;BU753163;BX503903;CD299174;CH471104;DB164588;HC679684;L06133;L06476;NG_013224;NM_000052;U27360;U27381;X82336;Z94753;Z94801 AAA16974;AAA35580;AAA96010;AAG47452;AAI56438;BAC82353;BAD92065;BAG61422;CAB08160;CAB08162;CAB94714;CBL93959;EAW98605;EAW98606;NP_000043;Q04656 Hs.496414;Hs.733232 1335235;1336636;1702604;1703164;1744143;1854132;1854134;2110275;2129677;2144288;2151213;2155472;2156606;2184550;5015619;5020946;5022200;5024413;5109281;5117080;5117082;5117086;5117088;7186248 AL023617;ATP7A__4401;D11S3114;D1S1425;DXS1494;DXS6743;DXS986;DXS990;G10612;G18202;GDB:392043;GDB:435280;GDB:435283;GDB:435290;GDB:435294;GDB:437238;L17877;L17971;L18426;L47618;L77252;SHGC-31483;SHGC-8964 DSMAX;FLJ17790;MK;MNK;SMAX3 ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome);Cu++-transporting P-type ATPase;Menkes disease-associated protein;OTTHUMP00000023593;atpase, cu++ transporting, alpha polypeptide;copper pump 1;copper-transporting ATPase 1 APPROVED protein-coding ENSG00000165240 869 02054 300011;300489;304150;309400 REVIEWED 1312186 ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q31.3 171614921 171632643 - 196758975 196776698 - 198492352 198510075 - 1580863;6480464;6907045 17360703;19366680;16710414;15489334;14597263;14580332;12788495;12477932;12384298;11836511;10440860;10340843;10224039;10221984;9442887;9210392;1415677;17662945;2874839 127124 Q96LB4 ABBA01027578;AC212752;AL157402;AMYH01001627;AY039760;BC101129;BC101130;BC101131;BF509031;BX114684;CH471067;NM_133262;NM_133326 AAI01130;AAI01131;AAI01132;AAK83465;EAW91298;EAW91299;NP_573569;NP_579872;Q96LB4 Hs.127743 ATP6G3;MGC119810;MGC119813;Vma10 ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3;OTTHUMP00000033686;OTTHUMP00000216846;OTTHUMP00000216847;V-ATPase 13 kDa subunit 3;V-ATPase G subunit 3;V-ATPase G3 subunit;V-ATPase subunit G 3;V-type proton ATPase subunit G 3;vacuolar ATP synthase subunit G 3;vacuolar proton pump G subunit 3;vacuolar proton pump subunit G 3;vacuolar proton pump, subunit G3 APPROVED protein-coding ENSG00000151418 18265 16526 REVIEWED 1320053 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p13 42858235 43107011 - 42105147 42353879 - 42410390 42659122 - 631958;1580863;6480464 9548971 10198212;18519826;17229723;15342556;12477932;11015572;9110174;8619474;22610502;20379614;15071553;15919184;21890473 10396 H0Y8I6;H0YAA1;H0YAF4;H0YAJ4;Q4G1C1;Q9Y2Q0 AB013452;AB209687;ABBA01014289;ABBA01014290;ABBA01014291;AC084010;AC096734;AC110788;AC139717;AF035315;AF067820;AK027252;AMYH01014134;AMYH01014135;AMYH01014136;BC020943;BC109317;BC109318;BP232466;BX648675;CH471069;NM_001105529;NM_006095 AAD34706;AAH20943;AAI09318;AAI09319;AAY40924;AAY40980;BAA77248;BAD92924;EAW93003;EAW93004;NP_001098999;NP_006086;Q9Y2Q0 Hs.435052 1666218;1762875;1764889;1771993;2108705;2114584;2157074;2170377;2185466 ATP8A1_9102;D4S1207;D4S3277;G09524;SHGC-146639;SHGC-148448;SHGC-36481;SHGC-59604;WI-19830 ATPASEII;ATPIA;ATPP2;MGC130042;MGC130043;MGC26327 ATPase II;ATPase class I type 8A member 1;OTTHUMP00000125252;OTTHUMP00000219630;aminophospholipid translocase;chromaffin granule ATPase II;probable phospholipid-transporting ATPase IA APPROVED protein-coding ENSG00000124406 13531 16527 609542 REVIEWED 1344629 ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2 13 13 13 q12 7010413 7663625 + 24844209 25493420 + 25946209 26595420 + 1580863;6480464 20889312;10551800;15057823;14702039;11015572;12477932;19778899;20379614;21454556;23568457;17621610;22797925 51761 B1ALJ8;B7Z880;F8W9B3;Q6ZSP3;Q6ZU25;Q9NTI2 ABBA01007904;ABBA01007905;ABBA01007906;ABBA01007907;ABBA01007908;ABBA01007909;ABBA01007910;ABBA01007911;AF236871;AK094653;AK126031;AK127263;AK302980;AK310254;AL136438;AL137256;AL138815;AL138958;AL157366;AL356316;AL390129;AL669971;AMYH01004978;AMYH01004979;AMYH01004980;AMYH01004981;BC144228;BC144229;BX537836;CH471075;NM_016529 AAF40215;AAI56472;AAI72535;BAC04396;BAC86402;BAC86905;BAH13866;CAB70658;CAB99084;CAD97848;EAX08372;EAX08373;EAX08374;EAX08375;EAX08376;NP_057613;Q9NTI2 Hs.444957 1338479;1339261;1339480;1646323;1655824;1656059;1703582;1710810;1716589;1718865;1730259;1731875;1737495;1737531;1739263;1748443;1750399;1757815;1759193;1759763;1779630;2124081;2143410;2164692;5094266;5127969;7187903 D13S1035;D13S1055;D13S1126;D13S1191;D13S1285;D13S1294;D13S182E;D13S221;D13S308;D13S809;G54675;G64210;RH121640;RH123137;SHGC-112580;SHGC-146587;SHGC-150884;SHGC-151273;SHGC-152561;SHGC-153606;SHGC-82790;SHGC-84149;STS-Z41450;WI-12595;WI-14830;WI-14969 ATP;ATPIB;CAMRQ4;DKFZp434B1913;IB;ML-1 ATPase class I type 8A member 2;ATPase, aminophospholipid transporter-like, class I, type 8A, member 2;OTTHUMP00000018151;probable phospholipid-transporting ATPase IB APPROVED protein-coding 13533 05795 605870;615268 VALIDATED 1352358 ATP8B5 ATPase, Class I, type 8B, member 5 11015572 57195 13537 731392 ATP7B ATPase, Cu++ transporting, beta polypeptide This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] 13 13 q14.3 51404806 51483631 - 52506805 52585630 - 734622;2292670;2298865;1643593;2298864;2292672;6480464;7240710 8037756;11802810;12216079;16488995;15790435;17303181 16567646;12029094;12763797;16472602;16554302;16884690;15269005;16939419;8298641;15681833;19478447;19419418;19371217;19296535;19181666;19141620;19062534;19033537;18974300;18855987;18841562;18809983;18698682;18692069;18688737;18652531;18637198;18636185;18593893;18565219;18558714;18521802;18483695;18373411;18371106;18203200;18180385;17949296;17944925;17919502;17897870;17876883;17823867;17718866;17717039;17680703;17660582;17634212;17587212;17562324;17531189;17410460;17325640;17317524;17272994;17229731;17171802;17160357;17109627;16700326;16676348;16632204;16571664;16416207;16377579;16310588;16283883;16230279;16215951;9600907;9554743;9482578;9311736;9307043;9222767;8980283;8938442;8931691;8889549;8782057;8533760;8298640;8298639;8250934;7833924;7762553;7626145;16088907;15967699;15963506;15952988;15845031;15557537;15519648;15511628;15337266;15205462;15158437;15154620;15135234;15102688;15057823;15024742;14986826;14966923;14709553;14616767;14514926;12968035;12885331;12820478;12812649;12579336;12579329;12557139;12551905;12544487;12539962;12539960;12477932;12445675;12325021;12196182;12186999;11857545;11823463;11806854;11775546;11775208;11690702;11470780;11405812;11243728;11180609;11053407;11043508;10942420;10940336;10790207;10721669;10557326;10544227;10502777;10502776;10497213;10447265;10334941;10051024;9887381;9829905;9772425;9724794;9671269;16211609;21398519;22258517;23650006;22692182;15071553;20931554;12572677;19046832;19416479;19520855;19634275;19645496;19783880;20032459;20045993;20082719;20124325;20201926;20362556;20465995;20491539;17196137;21189263;23518715;20708958;20333758;20739809;20485189;20965182;20799727;20566629;20430895;21117320;20301685;21219664;21242307;21406592;21115196;22484412;22763723;21034864;16344560;8889548;22046264;21454443;21645214;22898812;22145502;22356903;21139048;21796144;21890473;22950421;22075048;22720273;22240481;19322201;22459168;22574136;21832955;22130675;22677543;16573520;23221602;23235335;22720308;23159873;22774841 540 B7ZLR4;E7EQQ2;E7ET55;F5H562;F5H748;F6XIH0;P35670 AA047378;AB209461;ABBA01051051;ABBA01051052;ABBA01051053;AF034838;AF220215;AF254559;AF254560;AK302074;AK302490;AL138821;AL139082;AL162377;AMYH01005116;BC117200;BC143973;BC143974;BC143975;BC143976;BU682287;BX479483;BX648261;CH471075;DA125470;DQ015922;L25442;L25591;NG_008806;NM_000053;NM_001005918;NM_001243182;S77446;S77447;S77450;U03464;U11700 AAA16173;AAA79211;AAA79212;AAA92667;AAB34086;AAB34087;AAB52902;AAD01998;AAD14987;AAF67661;AAG27536;AAG27537;AAI17201;AAI43974;AAI43976;AAI43977;AAY41166;BAD92698;BAG63463;BAG63775;EAX08892;EAX08893;EAX08894;EAX08895;EAX08896;NP_000044;NP_001005918;NP_001230111;P35670 Hs.492280 1648904;1675814;1703832;1720049;1744567;1744569;1744571;1744573;1744575;1744577;1744579;1744581;1744587;1744589;1744591;1744601;1744603;1744605;1744607;1744609;1744611;1744613;1744615;1762651;1763361;2130628;2156518;2218276 ATP7B_4402;D19S1101;GDB:532997;GDB:533003;GDB:533006;GDB:533013;GDB:533021;GDB:533046;GDB:533050;GDB:533057;GDB:542970;GDB:542978;GDB:542982;GDB:547725;GDB:547728;GDB:547732;GDB:547739;GDB:547748;GDB:547753;GDB:547758;GDB:547771;RH123821;RH45092;RH98917;SHGC-146451;SHGC-147086;SHGC-79066;SHGC-8883 PWD;WC1;WD;WND ATPase, Cu(2+)- transporting, beta polypeptide;OTTHUMP00000018794;Wilson disease-associated protein;copper pump 2;copper-transporting ATPase 2 APPROVED protein-coding ENSG00000123191 870 06050 277900;606882 REVIEWED 1320995 ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 q11.2 54790668 54918403 - 54628103 54755871 - 1580863;6480464;6907045 9442887;9620685;11179428;12032142;16103193;2014052;18368028;15489334;14702039;14597263;14580332;12788495;12539959;12477932;12163484;12058068;11836511;10931946;10810093;11463741;16169070;19815536;2874839;22863883;21674799;22939629;21871445;22360420;20639865;21987572;21139048;21890473;21906983;11329013;16344560;21963094;21988832;23000965;23092984;20488787;22053931 51606 B3KUZ7;E5RG49;E5RHH0;E5RJG1;E5RK31;G3V126;H0YB41;Q9UI12 ABBA01041720;ABBA01041721;ABBA01041722;ABBA01041723;ABBA01041724;ABBA01041725;AC022887;AC103778;AC113194;AF112204;AF113222;AF125105;AF132945;AF298777;AI741756;AK022345;AK094839;AK098305;AK303229;AK308204;AL598970;AL833183;AMYH01018721;AMYH01018722;AMYH01018723;BC007421;BC007454;BC014862;BC025275;BG197001;CH471068;DA147153;DB464555;NM_015941;NM_213619;NM_213620 AAD27720;AAF17192;AAG22809;AAG39293;AAH25275;AAL75942;BAG51072;BAG53609;BAG64316;EAW86727;EAW86728;EAW86729;EAW86730;EAW86731;EAW86732;EAW86733;NP_057025;NP_998784;NP_998785;Q9UI12 Hs.491737 1739771;1857809;1858544;2125844;2137802;2155061;2157946 2004;A003B09;D20S765E;IB299;RH12012;RH46206;SHGC-56460 CGI-11;MSTP042;NBP1;SFD;SFDalpha;SFDbeta;VMA13 OTTHUMP00000226227;OTTHUMP00000226228;OTTHUMP00000226253;OTTHUMP00000226254;V-ATPase 50/57 kDa subunits;V-ATPase H subunit;V-ATPase subunit H;V-type proton ATPase subunit H;nef-binding protein 1;protein VMA13 homolog;vacuolar ATP synthase subunit H;vacuolar ATPase subunit H;vacuolar proton pump H subunit;vacuolar proton pump subunit H;vacuolar proton pump subunit SFD APPROVED protein-coding ENSG00000047249 18303 10591 608861 REVIEWED 1318284 ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] 18 18 q21.31 53464656 53550037 - 55313658 55470327 - 1580863;1599397;6480464;7240710 9500542 12880872;16628629;11682026;19478059;19228886;19027009;18951430;18668687;17948906;15946126;15888793;15489334;15239083;14988830;12477932;11093741;11015572;10679031;9918928;9548971;7894490;7655458;5762004;16341674;19381753;19479804;19731236;19809379;19890347;19918981;20038848;20232290;20512993;20447715;20852622;20216097;20414253;20683201;15071553;15919184;23060447;20301474;22001757;23213138;23251605 5205 K7EQC4;K7ERI0;K7ESK2;O43520 AA234929;ABBA01056133;ABBA01056134;ABBA01056135;ABBA01056136;ABBA01056137;ABBA01056138;ABBA01056139;ABBA01056140;AC022724;AC027097;AF032442;AF038007;AI625486;AI914078;AK128536;AMYH01009024;AMYH01009025;BC003534;BG403134;BM796053;CB052296;CH471096;CV572801;DR005588;NG_007148;NM_005603 AAC04328;AAC63461;AAH03534;AAI72221;EAW63054;EAW63055;NP_005594;O43520 Hs.216623 1338440;1668482;1789016;5015404;5016851;5020946;5024413 D18S381;G36359;G65640;L17705;L17877;L17971;RH80031 ATPIC;BRIC;FIC1;ICP1;PFIC;PFIC1 ATPase, class I, type 8B, member 1;E1-E2 ATPase;OTTHUMP00000163615;familial intrahepatic cholestasis type 1;phospholipid-transporting ATPase IC;probable phospholipid-transporting ATPase IC APPROVED protein-coding ENSG00000081923 3706 03867 147480;211600;243300;602397 REVIEWED 1316924 ATP8B3 ATPase, aminophospholipid transporter, class I, type 8B, member 3 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 p13.3 1716184 1746354 - 1733074 1763270 - 1782074 1812275 - 1580863;6480464 12880872;14702039;12477932;11015572;19416921;21890473;21906983;16344560;21963094;23251661 148229 F5GZM8;F5H3R9;H0YFS1;H0YH38;K7EJ52;O60423 ABBA01002684;ABBA01002685;ABBA01002686;ABBA01002687;AC004755;AC012615;AK057452;AK058189;AK125225;AK125969;AMYH01009264;AMYH01009265;AMYH01009266;AW444739;AY302538;BC033179;BC035162;BU542181;BX427831;CD365734;CH471139;DA111464;DB453086;NM_001178002;NM_138813;NR_047593 AAC17601;AAH35162;AAQ19028;BAB71492;BAB71708;BAC86088;EAW69454;EAW69455;EAW69456;EAW69457;EAW69458;EAW69459;EAW69460;EAW69461;EAW69462;EAW69463;NP_001171473;NP_620168;O60423 Hs.306212 1697272;5015879;5016478 GDB:314949;GDB:434012;RH102133 ATPIK ATPase, class I, type 8B, member 3;OTTHUMP00000232124;OTTHUMP00000232125;aminophospholipid translocase ATP8B3;potential phospholipid-transporting ATPase IK;probable phospholipid-transporting ATPase IK APPROVED protein-coding ENSG00000130270 13535 05793 605866 REVIEWED 1604224 ATP8B5P ATPase, class I, type 8B, member 5, pseudogene 9 9 9 p13.3 35338740 35415016 + 35396752 35473026 + 35406752 35483026 + 12477932;19657017;20210993 158381 ABBA01064993;AK310278;AL133476;AL160274;AL592145;AMYH01019344;AMYH01019345;BC031276;BC035229;BC047452;BC130448;BC130450;CH471071;NR_003581;NR_003582 EAW58379;EAW58380;EAW58381;EAW58382 Hs.575661 1660863;1690336;1752065;1770403;1770405 A005R04;D9S2099;G20429;RH92867;SHGC-106014 FetA APPROVED pseudo ENSG00000179766 27245 18739 PROVISIONAL 6770716 ATPBD4-AS1 ATPBD4 antisense RNA 1 (head to head) 15 35838396 36151202 + 100507466 ABBA01038500;ABBA01038501;ABBA01038502;AC015994;AC068867;AC087487;AMYH01006542;AMYH01006543;BC025664;NR_038251 Hs.536420 1654234;1718243 G17868;RH122891 APPROVED miscrna ENSG00000248079 44147 VALIDATED 1318635 ATP8B2 ATPase, aminophospholipid transporter, class I, type 8B, member 2 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127369751 127395492 + 152564660 152590404 + 154298036 154323780 + 1580863;6480464 12880872;15489334;14702039;12477932;11015572;10574461;19913121;20628086;15071553;15919184;21890473 57198 P98198;Q6P3T1 AB032963;ABBA01049481;AI857468;AK054886;AK304806;AL137537;AL162591;AMYH01001415;AY302537;BC007837;BC030288;BC041573;BC063858;BC069264;CH471121;NM_001005855;NM_020452 AAH07837;AAH30288;AAH63858;AAH69264;AAI40442;AAQ19027;BAA86451;BAB70822;BAG65556;CAB70799;EAW53204;EAW53205;EAW53206;EAW53207;EAW53208;NP_001005855;NP_065185;P98198 Hs.435700 1337159;2187481;5024035;5037552 D13S116;D8S2279;DXS8011;RH69640 ATPID;DKFZp434M0219;KIAA1137 ATPase, class I, type 8B, member 2;OTTHUMP00000034193;OTTHUMP00000034317;phospholipid-transporting ATPase ID;probable phospholipid-transporting ATPase ID APPROVED protein-coding ENSG00000143515 13534 05794 605867 REVIEWED 1315485 ATP8B4 ATPase, class I, type 8B, member 4 This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 15 15 15 q21.2 27043704 27304104 - 47937727 48198711 - 50150435 50411419 - 1580863;6480464 16572171;14702039;12880872;12477932;11853319;11015572;10737800;17998437;20379614;23087808 79895 H0YK53;H0YL60;H0YLC1;H0YLJ1;H0YM66;H0YMB5;H0YMP8;Q6PG43;Q8TF62 AB075819;ABBA01039119;ABBA01039120;ABBA01039121;AC009753;AC016045;AC025040;AK025125;AK123747;AK128602;AMYH01006633;AMYH01006634;BC057236;BC144297;BC144298;BE241899;BF898163;BF898268;BI258773;BX647496;CH471082;JA738691;NM_024837;NR_073596;NR_073597;NR_073598 AAH57236;AAI66692;BAB15072;BAB85525;BAG53950;CCF76998;EAW77380;EAW77381;EAW77382;EAW77383;NP_079113;Q8TF62 Hs.511311 1714829;1716823;2136102;2169890 D15S1509;RH120409;RH121707;RH70043 ATPIM;FLJ25418 potential phospholipid-transporting ATPase IM;probable phospholipid-transporting ATPase IM protein-coding ENSG00000104043 13536 10681 609123 REVIEWED 1313436 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] 1 1 1 p33-p32.3 45385744 45421450 - 46870996 46906686 - 47100711 47134099 - 6480464 12965202;12477932;12206899;11410595;20379614;20877624;16344560;15789402;20579638;21696813;21139048 64756 A8MRA7;E9PPX6;H0YCA6;H0YD21;H0YDD6;H0YEW4;I3L1W9;I3L448;Q5TC12 ABBA01050836;AF111705;AI188403;AJ710373;AK026004;AK296360;AK301874;AK302090;AK310338;AK311271;AL136373;AL593856;AMYH01000588;BC008498;BC018781;BC071731;BX438342;CH471059;DA244814;DB448244;DB483450;NM_001042546;NM_001243728;NM_001256418;NM_022745 AAH08498;AAH18781;AAH71731;AAM12421;ACE86499;ACE87180;BAB15316;BAH12330;BAH13572;BAH13622;EAX06896;EAX06897;NP_001036011;NP_001230657;NP_001243347;NP_073582;Q5TC12 Hs.100874 1644220;1644222;1849448;2170811 A005B23;D1S3533;G20246;G34811 ATP11;ATP11p;FLJ22351;FLJ55378;FLJ60653;MGC88060 ATP synthase mitochondrial F1 complex assembly factor 1;ATP11 homolog;OTTHUMP00000009681;OTTHUMP00000231564;OTTHUMP00000231566;OTTHUMP00000231567;OTTHUMP00000231568;homolog of yeast ATP11 APPROVED protein-coding ENSG00000123472 18803 12332 608917 REVIEWED 735480 ATP9A ATPase, class II, type 9A 20 20 20 q13.2 46917463 47089610 - 49646721 49818315 - 50213314 50384908 - 1580863;6480464 18519826;14702039;12477932;11780052;11015572;9734811;21145461;20379614;21182205;21890473 10079 Q96B35;Q9NQK7 AB014511;ABBA01052804;ABBA01052805;ABBA01052806;ABBA01052807;AF086357;AK025559;AK026513;AK172802;AK299064;AL035684;AL138807;AL353799;AMYH01011983;BC016044;BC036759;BC043392;BC063701;BC110591;BC110592;CH471077;NM_006045 AAH16044;AAI10592;AAI10593;AAI67819;BAA31586;BAD18775;BAG61130;EAW75597;EAW75598;EAW75599;EAW75600;NP_006036;O75110 Hs.743248 1335601;1652485;1672111;1691680;1710078;1771383;2120211;2145714;2145716;2155488;2156506;2169984;2169986;2170971;2177860;2218278 A001W29;A005Y41;A008B25;A009A38;AL032541;ATP9A_4405;D20S185;D20S457;D20S579E;D20S620;G19718;G20606;RH12445;RH45440;RH48521;SHGC-83700 ATPIIA;KIAA0611 ATPase type IV, phospholipid-transporting (P-type),(putative);OTTHUMP00000043369;OTTHUMP00000043371;phospholipid-transporting ATPase IIA;probable phospholipid-transporting ATPase IIA protein-coding ENSG00000054793 13540 18541 609126 VALIDATED 1353015 ATP9B ATPase, class II, type 9B 18 18 18 q23 73601459 73911517 + 74930385 75239271 + 76829397 77138283 + 631958;1580863;6480464 9548971 22525042;16177791;14702039;12477932;11124703;11015572;22118674 374868 B3KSI8;B4DJ94;F5H8J1;K7EII3;K7EJG1;K7EJP9;K7EJS3;K7EL57;K7EPH4;K7EQ39;K7EQQ5;K7ERE0;K7ES39;O43861;Q69YZ7;Q7Z3J4;Q7Z6L4 AB373110;ABBA01013884;ABBA01013885;ABBA01013886;AC023090;AC099689;AC104423;AC125437;AJ006268;AK093704;AK097757;AK127634;AK128142;AK128847;AK130499;AK130839;AK295981;AK308291;AL096735;AMYH01009127;AMYH01009128;AW411030;BC022535;BC036473;BC037546;BC053561;BC125219;BC125220;BX537860;BX648948;CH471117;NM_198531;U78978 AAC05243;AAH53561;AAI25220;AAI25221;BAC85365;BAC85443;BAC87065;BAC87644;BAG52750;BAG58756;BAM15576;CAA06934;CAD97865;CAH10731;EAW66609;EAW66610;EAW66611;EAW66612;EAW66613;EAW66614;EAW66615;EAW66616;NP_940933;O43861 Hs.465475 1341670;1657187;1701458;1707430;1717935;1721013;1725309;1750419;1762549;1768237;1778344;1850088;1850191;1858366;2140038;2182593;5015607;5020423;5021872;5022651;5022710;5037552;5115198;5118342 A004F30;A004V34;ATP9B;D11S1053;D11S2442;D11S2921;D11S3014;D11S3206;D18S1022;D18S1141;D18S909E;D8S2279;G59488;RH104361;RH118972;RH122794;RH45957;SHGC-112592;SHGC-146363;SHGC-84507;WI-10807;WI-11906;WI-3064;sY3084 ATPASEP;ATPIIB;DKFZp686H2093;FLJ46612;HUSSY-20;MGC150650;MGC150651;MGC61572;NEO1L;hMMR1 ATPase type IV, phospholipid transporting (P-type);OTTHUMP00000163815;macrophage MHC receptor 1;probable phospholipid-transporting ATPase IIB protein-coding ENSG00000166377 13541 16528 614446 VALIDATED 1314047 ATR ataxia telangiectasia and Rad3 related The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] 3 3 q23 143650767 143780358 - 142168077 142297668 - 1580863;1599404;2317234;6480464;6484113;6907045;7240710 12640452;18381943 22341969;16713580;14657349;8610130;9590286;15538388;15707391;19470935;19372558;19351817;19285939;19244116;19242509;19197236;19146767;19124506;19119425;19116388;19109555;19097996;19074885;19064572;19064565;19004803;18985806;18950845;18936170;18757420;18664457;18625709;18550533;18536714;18519640;18495871;18480045;18451257;18451105;18434539;18357388;18245444;18202016;18162465;18032786;18025301;18003706;17976513;17934520;17879369;17716975;17686975;17638878;17616665;17616578;17526493;17478428;17409144;17384681;17376433;17292679;17210576;17157788;17140287;17124492;17035231;17030982;17015476;17010193;16968694;16951182;16909103;16880517;16827800;16757521;16741947;16738325;16705183;16675950;16540648;16530042;16474843;16461339;16436511;16431910;16293623;16260606;16195237;16086026;16009130;15987455;15854902;15758953;15743907;15734998;15680327;15650165;15635413;15616588;15539948;15533933;15527801;15496423;15466211;15456891;15451423;15374968;15314022;15302935;15282542;15279777;15235112;15210935;15050919;14988723;14871897;14755251;14742437;14729973;14724280;12959929;12915485;12814551;12791985;12791699;12773400;12766152;12738771;12679521;12629512;12526805;12519769;12493754;12446774;12147700;12024051;12011431;11927575;11883897;11865061;11799063;11790298;11721054;11715017;11709713;11688760;11673449;11551930;11470508;11459832;11418864;11393670;11390642;11252893;11163154;11114888;10973490;10951572;10889046;10859164;10749680;10747897;10673501;10608806;10597277;10545197;9925639;9857181;9766667;9765199;9636169;9427750;8978690;8843195;16956949;16354571;16306615;15650754;15485898;15159397;11278964;11016625;15933716;15775976;15195100;21308861;20427287;20566845;20084458;20818375;15149599;16943440;17148452;18642075;18931676;19154794;19444312;19477925;19527713;19536649;19570909;19584262;19586908;19633697;19690177;19805520;19828454;19903823;20029092;20048340;20060399;20103595;20147462;20233725;20453000;20469721;20496165;20513533;9733515;20861269;19714462;20515729;20616048;20634891;20810650;16872911;18995830;20731661;16488880;20801936;21034966;21144835;14729972;17260016;17272271;20427275;15640246;18283122;18344416;21242293;20368801;21294646;21383502;21659603;21270107;21285353;23176708;21224401;21502314;21705319;21284603;17118963;17384638;20798688;20847938;21680529;16051665;21859891;23592782;22807682;22740051;22939629;21566061;21976111;22948311;17620599;22318606;21139048;21890473;21906983;21995812;20930849;21857991;21908846;21998596;23144622;23454212;22174788;10435622;22556425;22123827;22159421;22084169;18160036;16122426;23284306;23438602;19330022;22184063;22621920;22842784;16122425;18583959;20424596;21963094;22435685;23000965;23345434;23272087;23255133;22535492;23135710;18514189;19275579;19275588;19798433;20005840;20008788;20012529;20347598;21874023;21994772;22053931;22505724;23029527;19889979;22735644;22179839;22713662;23178497 545 D6RFJ6;D6RIG7;H0Y8R8;H0Y8Y6;H0Y9K2;H0Y9Q8;Q13535 A61385;AB208847;ABBA01059023;ABBA01059024;AC109992;AC134509;AF325699;AK307402;AMYH01013547;BE859077;CH471052;DC346860;NG_008951;NM_001184;U49844;U76308;Y09077 AAC50405;AAC50929;AAI72404;AAK26749;BAD92084;CAA03590;CAA70298;EAW78969;EAW78970;NP_001175;Q13535 Hs.271791 1334531;1335767;1341516;1656842;1784772;1789150;2115980;2145597;2150987;7187906 A008V33;D3S1316;D3S3694;D3S3710;G65709;GDB:4585095;SHGC-154915;SHGC-33010;STS-U76308 FCTCS;FRP1;MEC1;SCKL;SCKL1 FRAP-related protein 1;FRAP-related protein-1;MEC1, mitosis entry checkpoint 1, homolog;OTTHUMP00000214450;Rad3 related protein;ataxia telangiectasia and Rad3-related protein;protein kinase ATR;serine/threonine-protein kinase ATR APPROVED protein-coding ENSG00000175054 882 08369 210600;601215;602089;614564 REVIEWED 1313025 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18862395 18883635 - 17862059 17883205 - 17921334 17942480 - 1580863;6480464;7240710 11410595;14757859;11256614;16381901;15489336;15489334;12477932;11997338;11076863;9110174;8619474;19933271;20167577;20877624;21832049;22318606 91647 C9J2Q2;J3KTB2;K7ELC1;Q8N5M1 AA760883;ABBA01009741;ABBA01009742;AC087163;AF052185;AF070584;AI857387;AK290257;AK294487;AMYH01008163;AY203943;BC004114;BC032126;CH471196;NG_012824;NM_145691 AAH04114;AAH32126;AAP34466;BAF82946;BAG57709;CAL38119;EAW55676;EAW55677;EAW55678;EAW55679;EAW55680;NP_663729;Q8N5M1 Hs.528889 1775977;2114675;2170247 D17S2021;RH11962;SHGC-24341 ATP12;ATP12p;LP3663;MC5DN1;MGC29736 ATP synthase mitochondrial F1 complex assembly factor 2;ATP12 homolog;OTTHUMP00000065658;OTTHUMP00000065659;OTTHUMP00000065660 APPROVED protein-coding ENSG00000171953 18802 10599 604273;608918 REVIEWED 1607060 ATRNL1 attractin-like 1 10 10 10 q26 110582194 111437829 + 116843114 117698486 + 116853124 117708496 + 5144214;6480464 20654690 12477932;14531729;9628581;16385451;18821597;20379614;21130836 26033 B4DH41;B5MD97;E9PL90;F5H129;H0YDQ9;Q5VV63;R4GMZ1 AB011106;ABBA01062965;ABBA01062966;ABBA01062967;ABBA01062968;ABBA01062969;AC022542;AC091667;AK127277;AK294917;AK299592;AL355530;AL356100;AL357059;AL392087;AL512304;AMYH01003091;AMYH01003092;AMYH01003093;AMYH01003094;AMYH01003095;AW190029;AY442317;BC029592;BC035157;BC046219;BC047716;BC139916;BC139923;BX500409;CH471066;NM_001276282;NM_207303;NR_074088 AAH35157;AAH47716;AAI39917;AAI39924;AAI68382;AAR14297;BAA25460;BAC86914;BAG58002;BAG61524;EAW49459;EAW49460;EAW49461;NP_001263211;NP_997186;Q5VV63 Hs.501127 1338508;1665313;1670413;1680549;1703482;1706664;1782224;2121729;2132946;2134143;2135289;2135888;2171179;2178662;5019677 164ZG11;A008Q18;A009D06;D10S1254;D10S468;G17535;G32438;RH44336;RH46537;RH77766;RH80415;SHGC-82598;SHGC-82820;SHGC-84428;STS-Z40891 ALP;FLJ45344;KIAA0534;bA338L11.1;bA454H24.1 OTTHUMP00000020555;attractin-like protein 1 protein-coding ENSG00000107518 29063 12504 612869 VALIDATED 1323150 ATRAID all-trans retinoic acid-induced differentiation factor This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009] 2 2 2 p23.3 27281225 27286373 + 27288403 27293557 + 27434899 27440046 + 6480464 17524364;17387583;15815621;15489334;15340161;12975309;12477932;11042152;10948432;8889548;16169070;23284715;21832049;21723284;23036366 51374 C9JA62;Q6UW56 AA604432;AB009017;ABBA01045199;AC013403;AF077037;AF144055;AF275744;AK291894;AMYH01010195;AW966996;AY358968;BC002846;BC011006;BC021237;BC035850;BI194121;BQ420456;BQ718371;BQ962996;CA450289;CD513162;CF126865;CH471053;NM_001170795;NM_016085;NM_080592 AAD27770;AAD31317;AAH02846;AAH11006;AAH21237;AAH35850;AAK69412;AAQ89327;AAX93173;BAF80618;BAF84583;EAX00615;EAX00616;EAX00617;EAX00618;EAX00619;NP_001164266;NP_057169;NP_542159;Q6UW56 Hs.9527 1712186;2181945 G54144;RH70745 APR--3;APR-3;APR3;C2orf28;HSPC013;PRO240;p18 OTTHUMP00000158506;OTTHUMP00000201023;OTTHUMP00000201024;all-trans retinoic acid-induced differentiation factor;apoptosis related protein 3;apoptosis related protein APR-3;apoptosis-related protein 3 APPROVED protein-coding ENSG00000138085 24090 16652 REVIEWED 1312589 ATPIF1 ATPase inhibitory factor 1 This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 p35.3 28435198 28437198 + 28562602 28564616 + 1580863;6480464 15528193;12110673;10664857;17851741;16806233;16713569;15809073;15635413;15489334;14702039;12477932;11742976;16169070;20379614;20538613;18029348;20877624;20374090;15342556;16344560;23135403;19559621;22342343;18624398;21900206 93974 Q9UII2 AB029042;ABBA01035017;AF114836;AK000934;AK316600;AL050386;AL353622;AL583540;AMYH01000427;AY005470;BC004955;BC009677;BC017562;BG036978;BG337531;BG714388;BP271519;BT009849;CH471059;CR457097;DB030607;NM_016311;NM_178190;NM_178191 AAF97495;AAH04955;AAH09677;AAP88851;AAP97235;ACE86960;ACE87650;BAA88422;BAG38187;CAG33378;CAI46227;EAX07704;EAX07705;EAX07706;NP_057395;NP_835497;NP_835498;Q9UII2 Hs.590908 1779562;2117475 D1S3569;SHGC-153535 ATPI;ATPIP;IP;MGC1167;MGC8898 ATP synthase inhibitor protein;ATPase inhibitor protein;ATPase inhibitor, mitochondrial;IF(1);IF1;OTTHUMP00000003642;OTTHUMP00000234891;OTTHUMP00000234894;inhibitor of F(1)F(o)-ATPase APPROVED protein-coding ENSG00000130770 871 16529 614981 REVIEWED 1625848 ATRIP ATR interacting protein This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 3 3 p21.31 48463222 48482058 + 48488114 48507054 + 6480464 20834067;14657349;15707391;12791985;18950845;17638878;17616665;17339343;17327276;17203973;17171639;16959771;16713580;16530042;16407120;16186122;16176973;16027118;15758953;15743907;15527801;15489334;15451423;15210935;14724280;14702039;12477932;11721054;11278605;11181995;15798197;19097996;16189514;20048340;18283122;18344416;18480432;18995830;20861269;19913121;20628086;18162465;21285353;17384638;20847938;17686975;23144622;23454212;21859891;20930849;22210626;19471022;14729973;15371427;18519640;20616048;21615334;21775519;21777809;22258451;18583959;23345434 84126 C9IZM8;F8WE08;F8WEI5;Q8WUG7 ABBA01024647;ABBA01024648;ABBA01024649;ABBA01024650;AC104448;AF451323;AK022405;AK291568;AK291829;AK300548;AK315075;AL832917;AMYH01013149;BC014153;BC020563;BC030597;CB960784;CH471055;DC402185;NM_001271022;NM_001271023;NM_032166;NM_130384 AAH14153;AAH20563;AAH30597;AAL38042;ABM83164;ABM86364;BAB14029;BAF84257;BAF84518;BAG37544;BAG62254;CAH10621;EAW64875;EAW64876;EAW64877;EAW64878;EAW64879;EAW64880;EAW64881;EAW64882;NP_001257951;NP_001257952;NP_115542;NP_569055;Q8WXE1 Hs.694840 1848310;2135800 STS-Z41083;WI-21042 DKFZp762J2115;FLJ12343;MGC20625;MGC21482;MGC26740 ATM and Rad3-related-interacting protein;ATR-interacting protein;OTTHUMP00000164811;OTTHUMP00000164812;OTTHUMP00000210129 APPROVED protein-coding ENSG00000164053 33499 606605 REVIEWED 69117 ATRN attractin Multiple transcript variants encoding different isoforms exist for this gene. One of the isoforms is a membrane-bound protein with sequence similarity to the mouse mahogany protein, a receptor involved in controlling obesity. The other two isoforms are secreted proteins involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, May 2011] 20 20 p13 3399676 3579765 + 3451665 3631769 + 734623;1580863;1299186;5144214;6480464 10086355;12379762;20654690 10086356;9736737;19384953;19320733;16835316;16344560;16335952;15489334;14760718;12675230;12665801;12477932;11780052;10811918;9628581;8596018;1476071;17261078;20198559;19535787;20379614;18624398;21139048;21890473;22268729 8455 B4DZ36;Q9NTQ3 AA771958;AB011120;ABBA01053824;ABBA01053825;ABBA01053826;AF106861;AF218889;AF218910;AF218915;AK000356;AK293010;AK302730;AL109805;AL132773;AL353193;AMYH01011676;BC009724;BC101705;BE326239;CH471133;DA368237;DB240822;EC440053;NG_029406;NM_001207047;NM_139321;NM_139322 AAD03057;AAF72881;AAF72882;AAH09724;AAI01706;BAA25474;BAF85699;BAG63948;EAX10530;EAX10531;EAX10532;NP_001193976;NP_647537;NP_647538;O75882 Hs.276252 1336081;1651420;1670726;1734192;1793008;2122794;2177750;2177752;2178840;2183768;2184786 A005O05;D20S1122;D20S473;D20S516E;D20S813;D20S828;G18070;G20370;PMC18552P1;RH11545;Z94714 DPPT-L;KIAA0548;MGC126754;MGCA OTTHUMP00000030102;OTTHUMP00000030103;attractin;attractin-2;mahogany homolog;mahogany protein APPROVED protein-coding ENSG00000088812 885 04388 603130 REVIEWED 1605736 ATRX alpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] X X q21.1 76647012 76928375 - 76760356 77041719 - 6480464;7240710 21310198;8242062;7697714;12953102;17353931;10742099;10570185;7874112;19088125;19064565;19017809;18922870;18409179;18227278;17957225;17609377;17579672;17296936;17081983;16537041;16480427;16376512;16344560;16266892;15882967;15772651;15635413;15591283;15508018;15466868;15350606;15302935;14990586;14690447;14645126;14592816;12858175;12777533;12477932;12205100;12116232;11823444;11050622;10995512;10851248;10751095;10737800;10699177;10660327;10398237;10204841;9499421;9326931;9321665;9244431;9043863;8968741;8889548;8630485;8162050;8001970;3658675;3177467;1684092;1605216;1415255;16169070;10417298;22240898;21029860;15964851;19129197;19671661;19764021;20110566;20147399;20159591;8503439;19394292;21056573;21209221;16712791;19919584;20301622;21421568;20651253;21719641;15252119;21252315;23104868;23135716;21501635;21505078;17118963;20504901;21267006;21666677;21666679;22886134;19444003;22416102;15840729;21851155;20309963;21139048;21693764;21885354;21890473;21906983;23185534;22583365;22102817;19471022;21986699;22021382;22391447;22129561;21252943;22089611;22356911;22829774;15231748;23391111;23329831;22976303;22575867;22869205;22787211 546 H0Y3T0;Q5H9A3;Q7Z2J1 AA484729;AA732359;AB101681;AB101682;AB101683;AB101684;AB101685;AB101686;AB101687;AB101688;AB101689;AB101690;AB101691;AB101692;AB101693;AB101694;AB101695;AB101696;AB101697;AB101698;AB101699;AB101700;AB102641;AB208928;AB209545;ABBA01029609;ABBA01029610;ABBA01029611;ABBA01029612;ABBA01029613;ABBA01029614;ABBA01029615;ABBA01029616;ABBA01029617;ABBA01029618;ABBA01029619;ABBA01029620;ABBA01029621;ABBA01029622;ABBA01029623;ABBA01029624;ABBA01029625;ABBA01029626;ABBA01029627;ABBA01029628;ABBA01029629;ABBA01029630;ABBA01029631;ABBA01029632;ABBA01029633;ABBA01029634;ABBA01029635;ABBA01029636;ABBA01029637;ABBA01029638;ABBA01029639;ABBA01029640;ABBA01029641;ABBA01029642;ABBA01029643;ABBA01029644;ABBA01029645;ABBA01029646;ABBA01029647;ABBA01029648;ABBA01029649;AC233293;AC233305;AI733378;AK293241;AK295107;AK296959;AK297183;AK307791;AK308419;AL109753;AL121874;AL138743;AMYH01022628;AMYH01022629;AMYH01022630;BC002521;BE927791;BM714186;BQ189245;BT007188;BX647222;CB114986;CH471104;DA759777;DR422800;L33812;L34363;NG_008838;NM_000489;NM_138270;U09820;U72935;U72936;U72937;U72938;U75653;U97103;X83753;Z84487 AAA20872;AAB40698;AAB40699;AAB40700;AAB49969;AAB49970;AAB49971;AAC50069;AAC51655;AAC51657;AAH02521;AAI56297;AAP35852;BAC80270;BAC80271;BAC80272;BAC80273;BAC80274;BAC80275;BAC80276;BAC80277;BAC80278;BAC80279;BAC80280;BAC80281;BAC80282;BAC80283;BAC80284;BAC80285;BAC80286;BAC80287;BAC80288;BAC80289;BAC81110;BAD92165;BAD92782;BAG58140;BAG59503;BAG59673;BAH11474;CAA58711;CAB90351;CAI40710;CAI42674;CAI42675;CAI42677;CAI43115;CAI43116;CAI43117;EAW98611;EAW98612;EAW98613;EAW98614;EAW98615;NP_000480;NP_612114;P46100 Hs.533526;Hs.653797 1663208;1666138;1700090;1702244;1702820;1703118;1745193;1745199;1745207;1745213;1745215;1745219;1745223;1745231;1745233;1745239;1745241;1745243;1745245;1745247;1745249;1745253;1745255;1745257;1745259;1745263;1750095;1778907;1795408;2187294;2189463;5016534;5117684;5121815;7184775;7184776 ATRX_1237;DXS56;DXS6980E;DXS9779;GDB:596193;GDB:596198;GDB:596204;GDB:596209;GDB:596212;GDB:596216;GDB:596219;GDB:596225;GDB:596231;GDB:596234;GDB:596239;GDB:596244;GDB:596250;GDB:596255;GDB:596258;GDB:596262;GDB:596276;GDB:596281;GDB:596286;GDB:596290;GDB:596303;GDB:596309;MARC_6759-6760:992007400:1;RH103658;RH47714;SHGC-112339;SHGC-6680;STS-U72937;UniSTS:99785;WI-21664 ATR2;JMS;MGC2094;MRXHF1;RAD54;RAD54L;SFM1;SHS;XH2;XNP;ZNF-HX ATP-dependent helicase ATRX;DNA dependent ATPase and helicase;Juberg-Marsidi syndrome;OTTHUMP00000024265;OTTHUMP00000024266;RAD54 homolog;X-linked helicase II;X-linked nuclear protein;Zinc finger helicase;alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae);helicase 2, X-linked;transcriptional regulator ATRX APPROVED protein-coding ENSG00000085224 886 02069 300032;300448;301040;309580 REVIEWED 1344585 ATXN1 ataxin 1 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] 6 6 p23 16407322 16869700 - 16299343 16761721 - 1580863;6480464;7240710 16713569;11136710;12757932;15016912;9097953;15615787;7647801;17557114;19259763;19235102;19049837;18519031;18439907;18337722;18231590;18216249;18182848;18160752;17925862;17442486;17190598;16967484;16831871;16614004;16497448;16389595;16380905;16311891;16121196;15878393;15750336;15342556;15300851;15292212;15167689;15148151;14985428;14756671;14583607;14574404;12757707;12741986;12477932;12411613;12360291;12093161;12062018;11973625;11807410;11804332;11781699;11121205;11001934;10713882;9353121;9353120;8872471;8634720;8619528;8358429;7951322;1582256;12659632;22330095;22666429;21315774;17110330;18029348;18166084;19208651;19451621;19500214;19597981;20018885;20069235;20097758;20132795;20220018;20308783;20379614;20477910;22916034;20936779;20301363;17646162;21302343;23197749;21475249;21835928;23275563;23536093;22491195;17127076;22780124;15824120;22511762;23294540;23377640;23719381 6310 P54253;Q96FF1 AA774255;ABBA01022186;ABBA01022187;ABBA01022188;ABBA01022189;ABBA01022190;ABBA01022191;ABBA01022192;AC002112;AC002326;AK311274;AL009031;AL031120;AL034375;AL137003;AMYH01016112;AMYH01016113;AMYH01016114;AMYH01016115;BC010948;BC011026;BC014548;BC029401;BC039236;BC047894;BC063120;BC092446;BC113082;BC117125;BF666802;BF670717;BP365416;BX505133;CH471087;N52856;NG_011571;NM_000332;NM_001128164;S82497;X79204 AAD14401;AAH11026;AAH14548;AAI17126;ADR83271;CAA55793;EAW55370;EAW55371;EAW55372;EAW55373;EAW55374;NP_000323;NP_001121636;P54253 Hs.434961 1336273;1337609;1650871;1658670;1658770;1659587;1668120;1682762;1707200;1725299;1726011;1730193;1739085;1742931;1742933;1745907;1762927;1791390;1796718;1851823;2122064;2122500;2128195;2132451;2149528;2153443;2186910;7186202;7186482 1216;D6S1354;D6S1461;D6S2131;D6S274;D6S288;D6S324E;G15977;G62333;GDB:216047;GDB:216054;GDB:681830;PMC109045P1;RH118967;RH35931;RH46829;RH71007;SCA1_796;SGC30752;SHGC-146680;SHGC-33945;SHGC-79186;STS-AA010260;STS-X79204;WI-16958;WI-19222;WI-9349 ATX1;D6S504E;SCA1 OTTHUMP00000016065;ataxin-1;spinocerebellar ataxia type 1 protein APPROVED protein-coding ENSG00000124788 10548 03333 164400;601556 REVIEWED 1626546 ATXN1L ataxin 1-like 16 16 16 q22.2 56193822 56233096 + 70441087 70448737 + 71879894 71891236 + 6480464 17322884;16344560;16121196;12477932;11181995;10737800;21475249;21697133;16713569 342371 P0C7T5 AB621810;ABBA01016789;AC009127;AC010653;AI720164;AK025113;AK025339;AL833385;AMYH01007792;BC042985;BX537575;BX537596;CH471166;DB097328;NM_001137675 BAK64146;EAW59221;NP_001131147;P0C7T5 Hs.743239 1670974;1673239;1676990;1748411 D16S2943;D8Ertd587e;NIB1158;RH15633 BOAT;BOAT1;DKFZp667N0214;DKFZp686D05115;DKFZp686O1195;FLJ21460;FLJ21686 ataxin-1-like;brother of ATXN1;brother of ataxin 1;brother of ataxin-1 protein-coding ENSG00000224470 33279 614301 VALIDATED 1350255 ATXN7 ataxin 7 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 3 3 p21.1-p12 63825273 63961367 + 63850233 63989138 + 1580863;6480464;7240710 11371513;18206972;10441328;9288099;19259763;19235102;19172503;18325672;18216249;18182848;17720198;17254003;17026624;16962040;16713569;16389595;16325416;15936949;15932940;15316811;15302935;15148151;15115762;14702039;12944423;12533095;12070661;11804332;11734547;11709544;11697524;11580893;10713882;10598805;9425224;7829101;7647798;21078624;15342556;16494529;19789634;19843541;19909779;19955365;20069235;18029348;21746879;22827889;20634802;20739808;20301433;17375202;20600911;22367614;22917585;20732423;21827908;22072678;23226359;22100762;23236151 6314 H0YAT6;O15265;Q9UPD8 AA398030;ABBA01024312;ABBA01024313;ABBA01024314;AC012557;AC104162;AF020276;AF032102;AF032103;AF032104;AF032105;AF332956;AJ000517;AK125125;AK304062;AK310745;AL134602;AMYH01013248;BI494079;BP220889;CH471055;NG_008227;NM_000333;NM_001128149;NM_001177387 AAB87863;AAC19162;AAC19163;AAC19164;AAC39765;AAI66666;AAL79807;BAG64969;CAA04154;EAW65422;EAW65423;NP_000324;NP_001121621;NP_001170858;O15265 Hs.476595 1654372;1672783;1760029;1768371;2106957;2144331;2163158;2163250;2185836 A007I19;ATXN7_7871;D3S2349;G16540;SGC30565;SGC35083;SHGC-77026;SHGC-77032;SHGC-82827 ADCAII;FLJ17787;OPCA3;SCA7 OTTHUMP00000213403;OTTHUMP00000213405;OTTHUMP00000227997;ataxin-7;spinocerebellar ataxia type 7 protein APPROVED protein-coding ENSG00000163635 10560 06365 164500;607640 REVIEWED 1350736 ATXN7L2 ataxin 7-like 2 1 1 1 p13.3 108295911 108304776 + 109828084 109836879 + 110026561 110035426 + 737633;6480464 12477932 16710414;20383146;16713569;19615732;20125088;20379614 127002 I6L9B5;Q5T6C4;Q5T6C5 ABBA01068378;AK090460;AL355145;AMYH01000933;BC036849;BC037582;NM_153340 AAH36849;BAC03441;NP_699171;Q5T6C5 Hs.118248 1650054 SHGC-75273 FLJ00381;MGC46534 OTTHUMP00000012702;ataxin 7-like 1;ataxin-7-like protein 2 protein-coding ENSG00000162650 28713 12506 VALIDATED 1347160 ATXN2 ataxin 2 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010] 12 12 q24.1 110374401 110521863 - 111890018 112037480 - 1580863;6480464;7240710 10814712;15663938;17392519;16835262;12812977;17097639;19430479;19401771;19259763;19235102;19049837;18602463;18311140;18265007;18182848;18160752;17923635;17850638;17715286;17712857;17440947;17353931;17149720;16713569;16389595;16205789;16115810;16078202;15826995;15533937;15300851;15265035;15148151;15124760;14756671;14702039;14534423;12940846;12671950;12545161;12524342;12477932;12107410;11872620;11804332;11689490;11471052;11311558;10973246;10713882;9989626;9480749;9225980;8896557;8896556;8896555;8358438;9575182;16169070;16687213;21292779;21646631;22561518;22764223;20647273;20740007;22666429;21479228;18029348;18166084;19430483;19862010;20016785;20069235;20181956;20190752;20383146;20542020;19676102;21045733;21060863;20301452;21383967;20926453;21482525;22868089;23048034;23197749;21670397;21562247;21610160;17000644;22939629;22990118;21880993;21334959;21537950;22916186;18781797;21139048;21741123;21906983;22037902;21889984;21909110;22491195;22493691;19531213;19542561;16009940;21145461;22425256;23172909;20467438;22914732;23222517;23263486;23417110;22035589;23209657 6311 F8VQP2;F8VQS0;F8VRK6;F8VVM4;F8VVY6;F8VW23;F8VZC1;F8VZQ7;F8W0B5;F8WB05;F8WB06;H0YH87;Q24JQ7;Q99700 AA731027;ABBA01019890;ABBA01019891;ABBA01019892;ABBA01019893;ABBA01019894;ABBA01019895;ABBA01019896;ABBA01019897;ABBA01019898;AC002395;AC137055;AI083696;AK128613;AK307803;AL042619;AMYH01004752;BC111757;BC114546;BF448025;CA389718;CH471054;NG_011572;NM_002973;U70323;U80749;Y08262 AAB19200;AAI11758;AAI14547;BAC87528;CAA69589;EAW97957;EAW97958;EAW97959;EAW97960;NP_002964;Q99700 Hs.76253 1336988;1695288;1739389;1745921;1750945;1753005;2116061;2119986;2124432;2141199;2172754;2189349;2191333 D12S1390E;D12S1672;D12S1959;G64274;MARC_17487-17488:1030377680:1;MARC_2373-2374:991932707:1;RH70110;SGC44303;SHGC-104734;SHGC-63004;SHGC-68495;STS-N24020;STS-Y08262 ASL13;ATX2;FLJ46772;SCA2;TNRC13 OTTHUMP00000164680;OTTHUMP00000164681;OTTHUMP00000241635;OTTHUMP00000241637;OTTHUMP00000241638;ataxin-2;spinocerebellar ataxia type 2 protein;trinucleotide repeat containing 13;trinucleotide repeat-containing gene 13 protein APPROVED protein-coding ENSG00000204842 10555 03307 183090;601517 REVIEWED 1606478 ATXN3L ataxin 3-like This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011] X X X p22.2 17454431 17456183 - 13246687 13248447 - 13336766 13338518 - 6907045 16344560;15772651;12477932;11450850;21118805;22626734 92552 B4DYC7;Q9H3M9 AB050195;ABBA01071086;AC004674;AK302365;AMYH01022095;BC137186;BC137187;CH471074;DB059638;DB460385;DB525796;DB540973;NG_021356;NM_001135995 AAI37187;AAI37188;BAB18799;BAG63689;EAW98819;NP_001129467;Q9H3M9 Hs.382641 1702558;1751085 DXS1437;SHGC-104952 FLJ59638;MGC168806;MGC168807;MJDL OTTHUMP00000022931;machado-Joseph disease protein 1-like;putative ataxin-3-like protein APPROVED protein-coding ENSG00000123594 24173 REVIEWED 1351525 ATXN10 ataxin 10 This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 22 22 q13.31 44446351 44619493 + 46067678 46241187 + 724628;1599410;1599412;1580863;6480464;7240710 9973298;11017075;16714295 17353931;16385455;15201271;19259763;19234597;19171184;19147916;18386626;17846122;16498633;15489334;15461802;15148151;15127363;14702039;12477932;12235814;11891842;11256614;11230166;10591208;9818872;8421960;21145461;19936807;20548952;16344560;19835171;20379614;20301354;22863883;21565611;21827910;18781797;20639865;21987572;21139048;21857149;21890473;21906983;21963094;23000965;23026538;23181366;23383273;22053931;22190034;22797925 25814 B1AHE3;B1AHE4;H0Y7N2;Q9UBB4 ABBA01007140;AF086923;AF119662;AK025734;AK095309;AK294348;AL050282;AL137374;AMYH01012851;AMYH01012852;BC007508;BI597255;CH471138;CR456568;CR457381;DB035174;DB548216;NG_016212;NM_001167621;NM_013236;R43701;Z84478;Z93784;Z95331 AAF17219;AAH07508;AAP97153;ABM84166;ABM87569;BAG57616;CAB43383;CAB70715;CAG30454;CAG33662;EAW73392;EAW73393;NP_001161093;NP_037368;Q9UBB4 Hs.475125 1335217;1336946;1646750;1650698;1651367;1651483;1652458;1653734;1655249;1691332;1696960;1711358;1789576;1789578;1789580;1854463;2109075;2140649;2159126;2167125;2181947;5021941;5092970 A009D15;AL008655;AL021662;AL021671;AL022539;AL022558;ATXN10_9416;D22S1161;D22S1202;D22S928;D22S995E;G32443;G64327;G64328;G64329;RH101952;RH45963;RH66155;RH66330;RH80881;SCA10_SNP1;SHGC-82364;WI-11674 E46L;FLJ37990;HUMEEP;SCA10 OTTHUMP00000197383;ataxin-10;brain protein E46 homolog;spinocerebellar ataxia type 10 protein APPROVED protein-coding ENSG00000130638 10549 04624 603516;611150 REVIEWED 1604832 ATXN2L ataxin 2-like This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 p11 27786107 27802989 + 28741915 28756059 + 28834369 28848558 + 6480464 9110174;17392519;17081983;16964243;16713569;15782174;15489334;15302935;15144186;14769358;12477932;11784712;8896555;8619474;21145461;19615732;19915574;20473688;20935630;20811636;17000644;19156129;16009940;21628590;18781797;21139048;21890473;21906983;22586326;15576338;15175327;18729074 11273 H3BMX1;H3BPQ7;H3BQ14;H3BQX7;H3BRB0;H3BSK9;H3BSQ5;H3BUE3;H3BUF6;Q8IU61 ABBA01045688;AC116346;AC133550;AC145285;AF034373;AF070605;AJ317970;AJ317971;AJ317972;AJ317973;AJ317974;AK289981;AL137587;AMYH01007477;AMYH01007478;AY188334;AY188335;AY188336;AY188337;AY188338;BC010239;BC068012;BC082760;BC136584;BC144269;CH471267;NM_007245;NM_017492;NM_145714;NM_148414;NM_148415;NM_148416;U70671 AAB19201;AAC69607;AAH10239;AAH68012;AAH82760;AAI36585;AAO12056;AAO12057;AAO12058;AAO12059;AAO12060;BAF82670;CAC38068;CAC38069;CAC38070;CAC38071;CAC38072;EAW51986;EAW51987;EAW51988;EAW51989;EAW51990;EAW51991;EAW51992;EAW51993;EAW51994;EAW51995;EAW51996;NP_009176;NP_059867;NP_663760;NP_680780;NP_680781;NP_680782;Q8WWM7 Hs.460499 1684481;1696190;1765967;2107869;2130205;2159668;5123977;5124090 ATXN2L_9253;D16S3297;RH66987;RH75914;RH80138;SHGC-149359;SHGC-79036;STS-N24050 A2D;A2LG;A2LP;A2RP OTTHUMP00000122536;OTTHUMP00000122537;OTTHUMP00000122538;ataxin 2 related protein;ataxin-2 domain protein;ataxin-2-like protein;ataxin-2-related protein APPROVED protein-coding ENSG00000168488 31326 06394 607931 REVIEWED 1603419 ATXN8 ataxin 8 Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] q21 7240710 19259763;19229559;19203395;18418692;16804541;19714377;20301445;22297462;22053702;21827909;22577844 724066 Q156A1 DQ641254;GQ176777 ABG34539;ADD00781;Q156A1 Hs.532632;Hs.645205 2113574;5016598 G64288;SCA8_SNP1 ATXN3 ataxin-8;protein 1C2 APPROVED protein-coding 32925 608768;613289 1349210 ATXN7L1 ataxin 7-like 1 q22.1 15115762;14702039;12477932;10574462;12421765 57485 C9IZF2;C9K0V9;F8WDE7;H0Y8A2;Q8N7W9;Q9BTQ8;Q9ULK2 AB033044;AK097574;BC003517;BC055009 AAH03517;BAA86532;BAC05107;Q8N7W9;Q9ULK2 Hs.489603 1659549;1666912;1694658;1714759;1721719;1727265;1849103;2123885;2127299;2137720;2147167;2184517;2186107;2191069;5107778 A008Q40;D7S1605;D7S1670;D7S1783;D7S1993;D7S2302;G43507;G59724;G63038;GDB:4585457;GDB:4585481;L17801;MARC_13945-13946:1007583817:1;RH120045;WI-12698 KIAA1218 protein-coding 22210 1348320 AUNA1 auditory neuropathy, autosomal dominant 1 7240710 15520414 378942 23205 609129 1346559 ATXN8OS ATXN8 opposite strand (non-protein coding) This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008] 13 13 q21 69579346 69611562 + 70681345 70713885 + 7240710 19235102;18841561;18684474;16804541;16054804;15732096;15152344;15148151;14966165;14960773;14756671;12545428;12505613;12431257;12140678;11919683;11807410;11708995;11697524;10888605;10192387;17132942;18708037;19229559;19680445;19680539;20301445 6315 ABBA01050312;AF126749;AL160391;AMYH01005196;NG_016173;NR_002717 Hs.676453 2113574;2128014 D4S2793;SCA8_SNP1 KLHL1AS;NCRNA00003;SCA8 APPROVED miscrna 10561 603680;608768 REVIEWED 1606333 ATXN3 ataxin 3 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] 14 14 q21 91598883 91642707 - 92524896 92572965 - 6480464;6907045;7240710 22037589;16525503;16713569;9124802;10915768;7655453;9580663;19492089;19429074;19259763;19235102;19185026;19065528;19049837;18927607;18599482;18449188;18391951;18391950;18385100;18358414;18353661;18182848;18160752;17956866;17948873;17935801;17696782;17693639;17683516;17632007;17626202;17488727;17440947;17434145;17302910;17079677;17000876;16967484;16822850;16791428;16724006;16687213;16624810;16389595;16344560;16126176;16118278;16087686;16040601;15952105;15808507;15767577;15630566;15544810;15537899;15489334;15345714;15316156;15265035;15236410;15223312;15210524;15140190;15128861;15026782;14756671;14746390;14679302;14661975;14659761;14602712;14559776;12944474;12944423;12940846;12914917;12873751;12857950;12832059;12766160;12486728;12477932;12297501;12166658;12127147;12084819;11804332;11450850;11121205;9535906;9274833;8640226;8358439;8125298;7874163;7825578;18199748;22761419;17885668;20625959;23562578;20376803;17082820;18990604;19382171;19503814;19542537;19575245;19615732;19660550;19661182;19672991;19714377;19783548;19843543;20017304;20069235;20140862;20219685;20334689;19935829;20533274;20546612;20637808;20865150;20943656;14749733;20301375;20810784;21060878;20510362;20940148;21118805;23349684;21504740;21855799;21533208;22777171;23100324;21832049;21334959;16196087;21386698;21092747;19240029;21827905;21536589;21869492;21900206;22081612;19175675;21625540;12938929;20622874;21139048;21890473;21906983;18781797;20639865;21987572;22113611;22118674;19013454;22419666;22491195;22129356;11572863;16194547;16939621;18839019;19666135;20414249;22234302;19153604;21963094;22422287;23000965;22843411;23314748;23382880;23383273;22706685;16712842;21780213;22053931;22505724;22626734;22970133;23042605 4287 C9JQV6;D3VVP3;D6R9I5;E9PJN5;F5H211;G3V2G1;G3V2G2;G3V328;G3V390;G3V3A6;G3V3R7;G3V3S5;G3V3T0;G3V3T6;G3V4B1;G3V4F4;G3V4F5;G3V4U9;G3V526;G3V5H3;Q96TC3 AB038653;AB050194;AB209309;ABBA01030459;ABBA01030460;ABBA01030461;ABBA01030462;ABBA01030463;AK225884;AK307720;AK314919;AL049872;AL121773;AMYH01005956;AMYH01005957;BC022245;BC033711;BC095402;BU190081;BU663113;CH471061;DA827537;EU009923;GQ176435;GQ176436;GQ176437;GQ176438;GQ176443;GQ176445;GQ176446;GQ176452;GQ176453;GQ176454;GQ176455;GQ176456;GQ176457;GQ176459;GQ176461;GQ176462;GQ176463;GQ176464;GQ176465;GQ176466;GQ176467;GQ176469;GQ176474;GQ176475;GQ176476;GQ176477;GQ176479;GQ176480;GQ176482;GQ176483;GQ176484;GQ176485;GQ176486;GQ176487;GQ176488;GQ176489;GQ176490;GQ176492;GQ176493;GQ176494;GQ176496;GQ176497;GQ176499;GQ176510;GQ176511;GQ176525;GQ176529;GQ176531;GQ176532;GQ176533;GQ176534;GQ176536;GQ176538;GQ176542;GQ176543;GQ176545;GQ176546;GQ176547;GQ176548;GQ176550;GQ176551;GQ176552;GQ176554;GQ176556;GQ176559;GQ176560;GQ176563;GQ176565;GQ176566;GQ176567;GQ176570;GQ176574;GQ176576;GQ176577;GQ176578;GQ176579;GQ176580;GQ176582;GQ176587;GQ176589;GQ176592;GQ176609;GQ176616;GQ176618;GQ176621;GQ176622;GQ176624;GQ176626;GQ176627;GQ176628;GQ176630;GQ176631;GQ176632;GQ176633;GQ176636;GQ176639;GQ176644;GQ176656;GQ176658;GQ176660;GQ176662;GQ176664;GQ176665;GQ176667;GQ176674;GQ176675;GQ176677;GQ176678;GQ176679;GQ176680;GQ176681;GQ176682;GQ176683;GQ176684;GQ176685;GQ176687;GQ176688;GQ176689;GQ176690;GQ176691;GQ176692;GQ176693;GQ176694;GQ176695;GQ176696;GQ176697;GQ176700;GQ176701;GQ176702;GQ176703;GQ176712;GQ176714;GQ176715;GQ176716;GQ176718;GQ176719;GQ176720;GQ176721;GQ176722;GQ176723;GQ176724;GQ176725;GQ176726;GQ176727;GQ176728;GQ176737;GQ176740;GQ176741;GQ176743;GQ176744;GQ176746;GQ176748;GQ176749;GQ176750;GQ176753;GQ176754;GQ176755;GQ176756;GQ176757;GQ176758;GQ176759;GQ176760;GQ176761;GQ176763;GQ176766;GQ176767;GQ176769;GQ176770;GQ176771;GQ176772;GQ176773;GQ176774;GQ176776;GQ176778;GQ176779;GQ176780;GQ176781;GQ176782;GQ176784;GQ176785;GQ176786;GQ176787;GQ176789;GQ176790;GQ176793;GQ176805;GQ176807;GQ176809;GQ176810;GQ176811;GQ176812;GQ176813;GQ176814;GQ176815;GQ176817;GQ176818;GQ176819;GQ176820;GQ176821;GQ176823;GQ176828;GQ176832;GQ176833;GQ176835;GQ176836;GQ176837;HI179016;HI179018;NG_008198;NM_001127696;NM_001127697;NM_001164774;NM_001164776;NM_001164777;NM_001164778;NM_001164779;NM_001164780;NM_001164781;NM_001164782;NM_004993;NM_030660;NR_028453;NR_028454;NR_028455;NR_028456;NR_028457;NR_028458;NR_028459;NR_028460;NR_028461;NR_028462;NR_028463;NR_028464;NR_028465;NR_028466;NR_028467;NR_028468;NR_028469;NR_028470;NR_031765;S75313;U64820;U64821;U64822 AAB33571;AAB63352;AAB63353;AAB63354;AAH33711;AAH95402;ABM82208;ABS29269;ABW03377;ADD00637;ADD00638;ADD00639;ADD00642;ADD00643;ADD00644;ADD00645;ADD00646;ADD00647;ADD00648;ADD00649;ADD00650;ADD00651;ADD00652;ADD00653;ADD00654;ADD00655;ADD00656;ADD00659;ADD00662;ADD00663;ADD00668;ADD00669;ADD00670;ADD00671;ADD00672;ADD00675;ADD00676;ADD00677;ADD00678;ADD00679;ADD00680;ADD00681;ADD00682;ADD00684;ADD00685;ADD00686;ADD00688;ADD00690;ADD00691;ADD00692;ADD00693;ADD00694;ADD00699;ADD00703;ADD00704;ADD00706;ADD00707;ADD00709;ADD00710;ADD00711;ADD00712;ADD00714;ADD00715;ADD00718;ADD00721;ADD00722;ADD00724;ADD00728;ADD00729;ADD00730;ADD00731;ADD00732;ADD00733;ADD00734;ADD00736;ADD00737;ADD00738;ADD00739;ADD00740;ADD00741;ADD00744;ADD00745;ADD00746;ADD00750;ADD00751;ADD00752;ADD00753;ADD00754;ADD00755;ADD00756;ADD00757;ADD00759;ADD00760;ADD00762;ADD00764;ADD00765;ADD00766;ADD00767;ADD00768;ADD00769;ADD00770;ADD00771;ADD00772;ADD00774;ADD00775;ADD00776;ADD00777;ADD00778;ADD00779;ADD00780;ADD00782;ADD00783;ADD00784;ADD00785;ADD00786;ADD00787;ADD00788;ADD00789;ADD00792;ADD00797;ADD00800;ADD00801;ADD00802;ADD00803;ADD00804;ADD00805;ADD00809;ADD00810;ADD00811;BAB18798;BAB55645;BAB55646;BAD92546;CBX53817;CBX53818;EAW81471;EAW81472;EAW81473;EAW81474;EAW81475;NP_001121168;NP_001121169;NP_001158246;NP_001158248;NP_001158249;NP_001158250;NP_001158251;NP_001158252;NP_001158253;NP_001158254;NP_004984;NP_109376;P54252 Hs.532632 1698424;1739631;1788646;2107871;2110103;2121038;2133108;2142492;2142539;2163762;5016596;5016598;5020635;5020740;5020948;5021369;5037552;5095802;5109281 ATXN3_8472;D14S1196;D14S891E;D14S968;D1S1425;D7S3207;D8S2279;G35435;G35510;G35728;G64288;GDB:631802;L17796;L17809;MJD_SNP1;RH102757;RH18151;RH66122;RH69604 AT3;ATX3;JOS;MJD;MJD1;SCA3 Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3);Machado-Joseph disease protein 1;OTTHUMP00000221583;OTTHUMP00000221584;OTTHUMP00000221585;OTTHUMP00000221586;OTTHUMP00000221587;OTTHUMP00000231995;OTTHUMP00000231997;OTTHUMP00000245314;OTTHUMP00000245315;OTTHUMP00000245317;OTTHUMP00000245320;OTTHUMP00000245325;OTTHUMP00000245332;ataxin 3 variant h;ataxin 3 variant m;ataxin 3 variant ref;ataxin-3;josephin;olivopontocerebellar ataxia 3;spinocerebellar ataxia type 3 protein APPROVED protein-coding ENSG00000066427 7106 06131 109150;607047 REVIEWED 2816966 ATXN7L3B ataxin 7-like 3B 12 12 12 q21 74598676 74602356 + 73217818 73221499 + 74931551 74935232 + 6480464 12477932;14702039;16344560;19615732 552889 Q96GX2 ABBA01026479;AC025257;AK056642;AK095526;AL713650;AMYH01004586;BC009111;BX647460;CH471054;CX868912;DA298752;NM_001136262 AAH09111;EAW97284;NP_001129734;Q96GX2 Hs.213541 1653672;1665781;1772599;2172500 1798;D12S1191E;D12S1415;IB3090 FLJ32080;MGC17296 OTTHUMP00000225428;ataxin 7-like 3B;putative ataxin-7-like protein 3B protein-coding ENSG00000253719 37931 VALIDATED 1345348 ATXN7L4 ataxin 7-like 4 7 q22.2 105188055 105304264 - 6480464 15489334;15115762;14702039;12690205;12477932 222255 A4D0Q2;Q8N2T0;Q9BTQ8;Q9ULK2 AC005099;AC007030;AK095475;BC030616;CH236947;CH471070;NM_152749 AAH30616;EAL24404;EAL24405;EAW83370;EAW83371;EAW83372;EAW83373;EAW83374;NP_689962;Q8N2T0;Q9BTQ8 Hs.489603 MGC33190 protein-coding 28481 12508 1342958 ATXN7L3 ataxin 7-like 3 17 17 17 q21.31 38977906 38984265 - 39624699 39631055 - 42269173 42275529 - 6480464 15115762;18206972;15489334;14702039;12477932;16713569;19615732;19843541;20634802;16751776;21746879;23382074 56970 K7EJK2;K7EKG9;K7EMZ3;K7ENU1;K7ENZ2;Q14CW9 ABBA01028383;AC004596;AK056002;AK074344;AK126117;AK296689;AL390158;AMYH01008412;AMYH01008413;BC024695;BC037418;BC064932;BC100295;BC113595;BC126113;CH471178;DQ588490;NM_001098833;NM_020218 AAH37418;AAI13596;AAI26114;ADR82942;BAB71070;BAG59283;CAB99093;EAW51622;NP_001092303;NP_064603;Q14CW9 Hs.512651 1791254;2140699;2140701;2172594;2191573;2191769 A005Q19;G20416;MARC_26625-26626:1034086788:1;MARC_7251-7252:996687693:1;MARC_8253-8254:996688461:1;RH16013 DKFZp761G2113 SAGA-associated factor 11 homolog;ataxin-7-like protein 3 protein-coding ENSG00000087152 25416 VALIDATED 1601974 AUNIP aurora kinase A and ninein interacting protein 1 1 1 p36.11 24556593 24581939 - 26033084 26058435 - 26160497 26185848 - 6480464 14702039;12477932;20596670;8125298;19322201 79000 Q9H7T9 ABBA01034887;AK024326;AK223419;AL020996;AL033528;AMYH01000394;BC000209;CH471059;GQ844687;NM_024037 AAH00209;ACV90488;ADZ15753;BAB14886;BAD97139;EAX07863;NP_076942;Q9H7T9 Hs.725400 1692164;1716451;1849307;2107369 AL033716;MGC2603__7694;RH121405;SHGC-74421 AIBP;C1orf135;FLJ14264;MGC2603 OTTHUMP00000008503;aurora A-binding protein;aurora kinase A and ninein-interacting protein;uncharacterized protein C1orf135 APPROVED protein-coding ENSG00000127423 28363 08323 PROVISIONAL 1352749 AURKAPS2 aurora kinase A pseudogene 2 10 10 10 q25.3 109734927 109736124 + 115995749 115996946 + 116005759 116006956 + 386665 ABBA01062982;AC005383;AMYH01003086;NG_003111 STK6LP pseudo 18612 INFERRED 1351049 AURKBPS1 aurora kinase B pseudogene 1 8 8 q23.1 109212456 109223136 - 109143190 109144422 - 359937;644233 ABBA01037703;AMYH01018956;AP001331;NG_022401 AurBps1 pseudo 18613 INFERRED 1314501 AUH AU RNA binding protein/enoyl-CoA hydratase The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. [provided by RefSeq, May 2010] 9 9 q22.31 93015926 93163996 - 93976097 94124206 - 1599425;1580863;6480464;6907045;7240710 12434311 7892223;18978678;18831052;16640564;16381901;16344560;15489336;15489334;15033206;12655555;12477932;11738050;11076863;10072761;9108262;21150874;20877624;21840233;21963094 549 B4DYI6;Q13825 ABBA01012850;ABBA01012851;ABBA01012852;ABBA01012853;AK302453;AL158071;AL353645;AL513353;AMYH01021504;AV751432;BC020722;BG706374;CH471089;DA724873;NG_008017;NM_001698;X79888 AAH20722;ABM82962;ABM86153;BAG63748;CAA56260;CAL38298;EAW62794;EAW62795;NP_001689;Q13825 Hs.175905 1650091;1658425;1706330;1707238;1714679;1718775;1769730;5022450;5022578 D10S275;D1S1423;D9S2075;D9S787;RH120004;RH123078;SHGC-31547;SHGC-79213;SHGC-80730 3-methylglutaconyl-CoA hydratase;AU RNA binding protein/enoyl-Coenzyme A hydratase;AU RNA-binding protein/enoyl-Coenzyme A hydratase;AU-binding protein/Enoyl-CoA hydratase;AU-specific RNA-binding enoyl-CoA hydratase;OTTHUMP00000021631;OTTHUMP00000021632;methylglutaconyl-CoA hydratase, mitochondrial APPROVED protein-coding ENSG00000148090 890 08987 250950;600529 REVIEWED 1350656 AUTS1 autism susceptibility 1 9546821 8311 892 1602731 AUP1 ancient ubiquitous protein 1 This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for mitochondrial serine protease 25. [provided by RefSeq, Jul 2008] 2 2 2 p13 74584883 74588082 - 74607283 74610482 - 74753775 74756974 - 6480464 17353931;18029348;15489334;14702039;12534238;12534237;12477932;12042322;11042152;8812468;20562859;21127063;22990118;16196087;18711132;20435896;18781797;21139048;21857022;21890473;21906983;21987572;23464991;15231748;21963094;23000965;23223569;23246001;17725712;23197321;22053931;22505724;22797925 550 Q9Y679 ABBA01075602;AC005041;AF100746;AF100753;AF100754;AF165515;AI206563;AK023983;AK055566;AK293121;AK301398;AK304886;AK308231;AK310159;AMYH01010454;BC001658;BC033646;CH471053;CR749661;CR999537;NG_012163;NG_033037;NM_181575 AAD43010;AAD43017;AAD43018;AAF86645;AAH01658;AAH33646;ACE86627;ACE87308;BAB14753;BAF85810;BAG62933;BAG65623;CAH18454;EAW99622;EAW99623;EAW99624;EAW99625;NP_853553;Q9Y679 Hs.411480 1734746;1734814;2171782;2189429 D2S1537E;D2S1577E;MARC_5801-5802:991939731:1;WI-19737 OTTHUMP00000160424;OTTHUMP00000202724;ancient ubiquitous protein 1 APPROVED protein-coding ENSG00000115307 891 03892 602434 REVIEWED 1350150 AURKAPS1 aurora kinase A pseudogene 1 1 1 1 q41 193658730 193660266 - 218506144 218507680 - 220439521 220441057 - 12477932;9605851 6791 ABBA01048081;AL445435;AMYH01001742;BC050630;NG_015837;NR_001587 Hs.654849;Hs.744357 2177179 SHGC-53807 AurAps1;STK6P serine/threonine kinase 6 pseudogene APPROVED pseudo 18611 VALIDATED 1343852 AURKC aurora kinase C This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 q13.43 62434189 62438728 + 57742377 57746916 + 1580863;6480464 15057824;10066797;19147683;18309533;17637569;17435757;16258285;15938719;15917996;15670791;15499654;15316025;14671302;12884918;12477932;9809744;9799611;22087225;14602875;19649632;19713763;20508983;20629650;21531210;21710690;22046298;22990118;19774610;19953087;20663916;21733974;21906983;21493633;21353399;22318606;21890473;21963094;21987572;21988832;22939624;23292864;22888167;23581231;22505724 6795 B4DXA6;M0QX60;M0QYK8;Q5Y191;Q9UQB9 AB017332;ABBA01020814;ABBA01020815;AC005261;AF054621;AF059681;AMYH01010027;AY421575;AY661554;AY714054;BC075064;BX092186;CH471135;NG_012134;NM_001015878;NM_001015879;NM_003160 AAC25955;AAC77369;AAH75064;AAT64422;AAU04399;BAA76292;EAW72485;EAW72486;NP_001015878;NP_001015879;NP_003151;Q9UQB9 Hs.98338 1688257;1797188;5017661 AURKC;RH93146;STK13 AIE2;AIK3;ARK3;AurC;SPGF5;STK13;aurora-C ARK-3;aurora 3;aurora kinase C;aurora-related kinase 3;aurora/IPL1-related kinase 3;aurora/IPL1/EG2 protein 2;serine/threonine kinase 13 (aurora/IPL1-like);serine/threonine-protein kinase 13;serine/threonine-protein kinase aurora-C APPROVED protein-coding ENSG00000105146 11391 04605 603495 REVIEWED 1353168 AURKA aurora kinase A The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13 54377852 54400758 - 54944445 54967351 - 1580863;1643348;1643346;2293872;2293871;2293873;2293874;2293877;2293884;2293878;2293883;6480464;7240710 14693746;17349527;18314619;18485461;17599395;17465238;16707419;15466974;16311121;15754349 19799648;20713353;12244051;15987997;9153231;15504738;19487276;9605851;9514916;9174055;18592005;15064709;17353931;18667445;18663358;18663142;18641684;18628459;18615013;18566290;18562694;18469155;18466087;18431743;18391981;18372918;18361916;18361427;18353975;18321990;18311783;18284933;18043979;18027856;18019715;17974987;17957726;17935280;17926144;17925329;17914111;17909067;17908995;17898866;17851643;17850717;17786310;17705509;17686574;17673924;17634535;17634533;17634283;17627006;18669163;19440020;19435814;19412426;19357306;19306133;19232520;19197335;19157502;19124506;19111882;19074838;19060929;19059698;19028417;19001879;18931650;18854777;18823025;18815537;18812553;18803637;18802780;18790738;18776222;18773538;18708766;18707550;18676680;17604723;17591802;17563743;17505013;17488622;17457043;17452972;17438137;17433255;17390048;17333265;17229885;17219423;17143471;17125279;17120309;17113223;17102620;17060449;17060341;17018785;17003782;16951231;16912073;16894566;16890155;16860930;16849685;16772293;16767676;16574658;16572587;16412566;16411056;16381901;16377583;16337122;16332542;16158051;16082213;16080195;16049965;16011022;15966895;15944763;15880741;15867347;15860351;15839305;15802297;15793587;15749021;15688402;15598762;15592510;15536123;15534106;15489336;15489334;15469940;15289843;15271856;15271853;15190214;15173575;15147269;15128871;15087379;15078988;15041727;14990569;14744757;14692019;14667408;14603251;14580337;13678582;13678575;12927815;12883693;12881723;12833450;12716366;12693093;12684414;12631597;12559175;12490715;12477932;12467573;12354758;12237287;12198151;12177045;11976319;11903063;11847097;11790771;11784863;11780052;11551964;11413462;11256614;11076863;11039908;10377410;9771714;21584819;22222631;22302096;22396649;21472690;21198377;21247708;22011530;22246202;22318606;22492986;14602875;17441355;17441356;18390187;18434591;18662907;19170196;19204928;19351716;19494039;19550118;19551141;19564927;20629650;21052088;17940067;21147853;19616898;19625176;19648887;19649632;19652203;19671766;19672706;19690970;19692168;19696028;19738056;19801554;19812038;19821797;19822419;19874801;19891769;19901077;19954064;20002563;20003375;20043089;20160025;20182874;20182906;20368716;20373286;20379614;20453000;20464476;20460379;14600264;20854072;20865660;21059223;20382844;20168084;20444701;20459534;16712791;20593995;20603326;22207630;22621899;14702041;21097701;20682043;20819778;20922573;21050672;21045147;20708655;21099343;21187329;20371132;21410931;20732714;20929925;21598251;21774789;21820309;21479365;21705324;21072059;11050385;21300005;23204235;21832049;22939629;20598352;21470402;21600873;21731694;21617231;21821029;21840910;22240781;21761347;19774610;21441901;21589936;21670214;23255113;23273898;23695679;23829974;21116854;21874044;21829699;21890637;22340593;21554500;21590355;20360068;21163064;21718475;21761334;20960027;22016509;22116466;22305495;22451695;23151618;23547029;21139048;21906983;22094468;21412660;21822051;22262852;21347367;21978935;21986944;22214762;22306998;20585902;21623171;20189840;22320980;22483753;22894933;22463590;22213102;22513362;19117984;22110403;22350409;23219753;23319376;23092930;21890473;21963094;21987572;22014574;22323290;22588468;23037716;23047430;23610398;23649807;22899799;22940834;23026799;23317189;23455922;22505724;22522455;22753416;17939994;23114921;23539442;22864622;23201157;22809428 6790 A3KFJ0;A3KFJ1;A3KFJ2;O14965;Q5QPD1;Q5QPD2;Q5QPD4 ABBA01052891;AF008551;AF011467;AF011468;AF195947;AK301769;AK312776;AL121914;AL711075;AMYH01012005;BC001280;BC002499;BC006423;BC027464;BF029182;BM458030;BQ435059;BU171303;BU542363;CB113289;CB138172;CH471077;D84212;NG_012133;NM_003600;NM_198433;NM_198434;NM_198435;NM_198436;NM_198437 AAC12708;AAC23448;AAC63902;AAF29508;AAH01280;AAH02499;AAH06423;AAH27464;ABM82196;ABM85384;BAA23592;BAG35640;BAG63228;CAL37826;EAW75550;EAW75551;EAW75552;EAW75553;EAW75554;EAW75555;EAW75556;EAW75557;EAW75558;EAW75559;EAW75560;EAW75561;EAW75562;NP_003591;NP_940835;NP_940836;NP_940837;NP_940838;NP_940839;O14965 Hs.250822 1677478;1776446;2177179;5022578 D1S1423;RH12027;RH80570;SHGC-53807 AIK;ARK1;AURA;AURORA2;BTAK;MGC34538;PPP1R47;STK15;STK6;STK7 ARK-1;Aurora-A kinase;IPL1-related kinase;OTTHUMP00000031340;OTTHUMP00000031341;OTTHUMP00000031342;OTTHUMP00000031343;OTTHUMP00000031344;OTTHUMP00000031345;OTTHUMP00000166071;OTTHUMP00000166072;aurora 2;aurora kinase A;aurora-related kinase 1;aurora/IPL1-like kinase;aurora/IPL1-related kinase 1;breast tumor-amplified kinase;breast-tumor-amplified kinase;hARK1;protein phosphatase 1, regulatory subunit 47;serine/threonine kinase 6;serine/threonine protein kinase 15;serine/threonine-protein kinase 15;serine/threonine-protein kinase 6;serine/threonine-protein kinase aurora-A APPROVED protein-coding ENSG00000087586 11393 04066;04352 114500;603072 REVIEWED 1606265 AURKAIP1 aurora kinase A interacting protein 1 1 1 1 p36.33 1271320 1273028 + 1298973 1300443 - 1309110 1310818 - 6480464 18391981;12244051;19221504;18521620;17957726;17452972;16710414;16341674;15489334;15342556;15271856;14702039;13678582;12477932;8681137;21145461;21319273;17207965;18029348;20877624;21932983;21890473;22356826;22318606 54998 Q6PI41;Q9NWT8 ABBA01016037;AC026283;AJ573456;AK000615;AL139287;AMYH01000132;AW576100;BC022808;BC035595;BC046345;BC062333;BE903314;BF664406;BG764236;BM781908;BP198074;CH471183;DN994953;F31434;NM_001127229;NM_001127230;NM_017900 AAH22808;AAH46345;AAH62333;ADQ32127;BAA91289;EAW56218;EAW56219;NP_001120701;NP_001120702;NP_060370;Q9NWT8 Hs.632515 2131427 RH41935 AIP;AKIP;FLJ20608 AURKA-interacting protein;OTTHUMP00000001518;OTTHUMP00000003014;OTTHUMP00000003015;OTTHUMP00000003016;aurora kinase A-interacting protein;aurora-A kinase interacting protein protein-coding ENSG00000175756 24114 16457 609183 VALIDATED 1320604 AUTS2 autism susceptibility candidate 2 7 7 q11.22 68702255 69895790 + 69063905 70257885 + 1580863;6480464 18029348;19240061;19086053;12853948;12690205;12601173;12477932;12168954;12160723;9455477;8889548;22325352;22610502;21471458;19546859;19567891;20379614;20398908;19913121;20628086;20635338;22578776;22995765;23437340;23455922;23332918;22693459;23349641;22925353;23251661;23382691 26053 H7BZZ9;H7C090;H7C0G5;H7C1G5;H7C2P0;L7QF75;Q86WD8;Q8WXX7 AACC02000045;AB007902;ABBA01064033;ABBA01064034;ABBA01064035;ABBA01064036;ABBA01064037;ABBA01064038;ABBA01064039;ABBA01064040;ABBA01064041;ABBA01064042;ABBA01064043;ABBA01064044;ABBA01064045;ABBA01064046;AC004773;AC004881;AC004927;AC006012;AC006317;AC006318;AC006319;AC006361;AC073148;AC073873;AC093487;AC093679;AC093685;AF326917;AK025298;AK296981;AMYH01017512;AMYH01017513;AMYH01017514;AMYH01017515;AMYH01017516;AMYH01017517;AMYH01017518;AMYH01017519;AY211931;BC011643;BC064693;BU608023;CH236952;CH471140;HI574242;JQ670866;NM_001127231;NM_001127232;NM_015570 AAH11643;AAH64693;AAL37411;AAO65184;AAS00369;AAS00371;AAS02044;AAS07446;AAS07468;AAS07486;AFY24235;BAA23714;BAG59522;CBX47610;EAL23968;EAX07895;EAX07896;NP_001120703;NP_001120704;NP_056385;Q8WXX7 Hs.21631;Hs.712991 1336515;1336662;1342116;1646950;1649319;1651181;1654349;1661229;1672416;1674886;1684670;1696132;1707486;1711002;1714441;1714827;1716811;1718965;1724677;1739103;1753237;1759697;1770455;1772016;1775583;1786298;1849396;1851743;1853711;1854500;1854615;1856665;2110277;2115722;2117817;2118330;2120141;2127509;2129076;2130061;2136507;2137254;2138151;2139485;2141411;2161745;2167275;2168901;2170296;2171776;2173531;2174412;2177981;2181344;2186774;2186965;7184449;7186545;7186830 1164;1590;AUTS2__4408;D7S1387;D7S1677;D7S1832;D7S1997;D7S2099E;D7S2261;D7S2385E;D7S2435;D7S2500;D7S2798;D7S2803;D7S645;D7S726;D7S769;GDB:1317394;GDB:1317414;GDB:1317678;GDB:1317778;GDB:1317898;GDB:1317946;GDB:1318665;GDB:3754301;GDB:3754413;GDB:4584965;GDB:4585286;GDB:4585349;GDB:4585587;GDB:4585727;RH120213;RH120408;RH121342;RH121701;RH123190;RH35891;RH36141;RH36552;RH48631;RH66649;RH68955;RH91774;SHGC-110082;SHGC-151009;SHGC-153479;SHGC-34763;SHGC-56083;SHGC-56084;SHGC-79069;SHGC-84538;SHGC-84879;STS-AA019937;STS-H09325;WI-11330;WI-21487 FBRSL2;KIAA0442;MGC13140 OTTHUMP00000160177;OTTHUMP00000210180;OTTHUMP00000210286;autism susceptibility gene 2 protein;autism susceptibility protein 2 long isoform;autism-related protein 1 protein-coding ENSG00000158321 14262 06276 607270 VALIDATED 731309 AURKB aurora kinase B This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 17 17 p13.1 8048774 8054608 - 8108049 8113944 - 1580863;2293878;2293877;6480464 16311121;16707419 12689593;16291752;19342897;19287963;19225156;19203582;19188929;19157502;19150808;19134008;19074885;19074838;19059698;18974773;18767990;18728397;18716057;18710370;18708766;18640974;18628459;18602486;18563336;18477699;18463638;18301241;18201571;17726378;17686574;17617734;17558394;17488622;17457057;17356064;17235564;17215513;17164288;17094487;17084365;17001311;16980585;16916643;16912073;16764853;16762323;16572587;16565220;16222316;16222244;16179389;16179162;16171786;16046481;15993841;15923616;15922328;15917996;15699543;15597762;15562011;15509656;15499654;15489334;15280424;15263015;15249581;15130946;15072448;15064709;15033491;14767480;14722118;14674694;14610074;14602875;12925766;12686604;22311150;22222631;12477932;12466558;12419797;12082625;11976319;11856369;11784863;11756469;11516652;11471245;11413462;9931403;9858806;9809983;9514916;19176389;17322402;15260989;17543862;20593489;22087225;22801782;22267324;19778810;19357306;20548097;20622363;20643881;20605920;20629650;20889715;20430883;19951914;20354862;20705812;20562864;20451386;20629633;20651058;20799978;20171103;20864540;20865660;10949293;14744859;15761153;16169070;17274640;17681274;17956729;18195732;18591255;19189202;19218110;19465021;19468067;19494039;19596781;19626681;19649632;19696028;19704020;19786723;19823168;19838728;19887622;19995937;20007324;20112500;20157117;20177074;20182906;20231380;20368716;20467329;20471944;20508983;18773538;18946085;20619651;20937697;20959462;21222513;20732714;21397507;21397845;11050385;20372054;20371132;21057000;21832049;22688343;22751009;23100464;21658950;21723127;21820309;21299608;16103226;21470402;21587233;21143115;20360068;21148584;22990868;19774610;21486945;21554500;21646403;22318606;15316025;22724069;23455922;22159225;16239925;17099693;20856855;21633354;22024163;21775627;21116854;21844210;21874044;21852114;20960027;22371557;22024481;22099307;20639865;20663916;21987572;21786106;22940834;23226345;23712260;23829974;21822051;22011448;22972986;21139048;21890473;21906983;21840910;20231385;22422861;22449725;22611192;22463590;22843098;22865920;21963094;21988832;22939624;23000965;23092930;18243099;23569217;23562843;22767597;18542055;22350409;22722494;22870391;23114921;20929775;21875947;22505724;16571674;23095493;23370391;22809428 9212 J3KRF8;J3KRJ2;J3KT86;J3KTD6;J3QLN8;J3QR41;J9JID1;O95083 AB011446;AB011450;AB519677;AB519678;AB519679;ABBA01054902;ABBA01054903;AC135178;AF004022;AF008552;AF015254;AK297976;AK314889;AMYH01008088;AY677083;BC000442;BC009751;BC013300;BC080581;BT019534;CH471108;NM_001256834;NM_004217 AAB65786;AAC12709;AAC98891;AAH00442;AAH09751;AAH13300;AAH80581;AAV38341;BAA32136;BAA82709;BAG37403;BAG60286;BAI23190;BAI23191;BAI23192;EAW90073;EAW90074;EAW90075;EAW90076;EAW90077;EAW90078;EAW90079;NP_001243763;NP_004208;Q96GD4 Hs.442658 1643852;2144829 RH17506;SGC34636 AIK2;AIM-1;AIM1;ARK2;AurB;IPL1;PPP1R48;STK12;STK5;aurkb-sv1;aurkb-sv2 ARK-2;OTTHUMP00000135331;STK-1;aurora 1;aurora kinase B;aurora kinase B-Sv1;aurora kinase B-Sv2;aurora- and Ipl1-like midbody-associated protein 1;aurora-1;aurora-B;aurora-related kinase 2;aurora/IPL1-related kinase 2;protein phosphatase 1, regulatory subunit 48;serine/threonine kinase 12;serine/threonine-protein kinase 12;serine/threonine-protein kinase 5;serine/threonine-protein kinase aurora-B APPROVED protein-coding ENSG00000178999 11390 05397 604970 VALIDATED 731808 AVIL advillin The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 57849081 57867775 - 56477710 56496119 - 58191159 58209852 - 1580863;6480464 9664034;18022635;15096633;14702039;12477932;12034507;11287316;22318606 10677 F8VNY0;F8VVU1;O75366 ABBA01026693;AC025165;AF041449;AK022448;AK314362;AMYH01004525;BC111730;BX647344;CH471054;NM_006576 AAC25051;AAI11731;BAG36994;EAW97079;EAW97080;NP_006567;O75366 Hs.584854 1687041;1736248;1777935;2147698;2147700;2148829;2150656;2166322;2184523;5015861;5109281;7185938 A005K05;A006V17;D10S16;D12S1197E;D1S1425;G20278;RH45892;RH65542;RH77844;RH80377;WI-13965 ADVIL;DKFZp779O1812;DOC6;FLJ12386;MGC133244;p92 OTTHUMP00000243877;advillin;pervin APPROVED protein-coding ENSG00000135407 14188 09816 613397 REVIEWED 619562 AVPR1B arginine vasopressin receptor 1B The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008] 1 1 q32 204390567 204398262 + 206224283 206231482 + 1579891;1580863;1300290;61542;2312649;6480464 14624682;12399951;7624319;19047484 10858434;7805841;7929452;18384079;17909131;17318384;16710414;15528211;15094789;12736162;12436935;11884209;10607899;10477084;9581826;9357056;8636444;8586456;22341483;16754659;18240029;19598235;19668115;19874574;20351714;20368512;20472303;18577758 553 P47901 ABBA01001843;ABBA01001844;AC244035;AF030512;AF101726;AF152238;AMYH01001676;BX571818;CH471067;D31833;DQ194816;DY317849;EU432111;L37112;NM_000707 AAA65687;AAB84293;AAD17892;AAF33681;AAI56079;AAI57127;ABA03171;ABY87910;BAA06621;EAW91596;EAW91597;NP_000698;P47901 Hs.1372 AVPR3 AVPR V1b;AVPR V3;OTTHUMP00000034344;V1bR;antidiuretic hormone receptor 1B;arginine vasopressin receptor 3;pituitary vasopressin receptor 3;vasopressin V1b receptor;vasopressin V3 receptor APPROVED protein-coding 896 02600 600264 REVIEWED 1349822 AVSD1 atrioventricular septal defect 1 7240710 9002679 7446 1339067;1339494;2158942 D1S1587;D1S3471;D1S406 12721 1320536 AVEN apoptosis, caspase activation inhibitor 15 15 15 q13.1 10960950 11134340 - 31945720 32118595 - 34158428 34331303 - 1580863;6480464 10949025;19096130;18996102;18571408;18303113;16388850;15761153;15489334;15345747;12477932;20030919;19913121;20602615;20628086;20379614;20800603;20935510;21718987;21906983;22751129;22505724;22388353;23000965 57099 H0YKR0;Q9NQS1 ABBA01038546;ABBA01038547;ABBA01038548;ABBA01038549;AC009268;AC010809;AC069045;AF283508;AK025888;AMYH01006509;BC010488;BC063533;BU855198;CH471125;NM_020371 AAF91470;AAH10488;AAH63533;EAW92281;NP_065104;Q9NQS1 Hs.555966 1670539;1684343;1685447;1698216;1713111;1719093;1761559;1777191;2133234;2140555;2157250 D15S1263;D15S1355;RH102644;RH120343;RH123264;RH48204;RH66717;RH94176;RH98244;SHGC-145553;WI-15231 PDCD12 OTTHUMP00000159733;cell death regulator Aven;programmed cell death 12 protein-coding ENSG00000169857 13509 05588 605265 VALIDATED 1604629 AVL9 AVL9 homolog (S. cerevisiase) 7 7 7 p14.3 32519090 32608957 + 32501701 32590304 + 32535176 32623779 + 6480464 17229886;14702039;12690205;12477932;9039502;21890473;22595670 23080 B8ZZW5;H7C0I1;Q8N6Z3;Q8NBF6 AACC02000087;ABBA01056837;ABBA01056838;ABBA01056839;ABBA01056840;ABBA01056841;ABBA01056842;ABBA01056843;AC018633;AC018641;AK090619;AL833560;AMYH01017156;AMYH01017157;BC027724;CH471073;D87682;NM_015060 AAH27724;BAA13435;BAC03489;CAH10387;EAL24439;EAW93992;EAW93993;EAW93994;EAW93995;EAW93996;EAW93997;NP_055875;Q8NBF6 Hs.128056 1655423;1679427;1735716;1854518;2114685;2132748;2145360;5015961;5024761 D15S1477;D7S1655;D7S1675;D7S2170E;GDB:1318160;RH36905;RH67910;RH92272;WI-15557 DKFZp686G0344;KIAA0241 OTTHUMP00000202740;OTTHUMP00000202741;OTTHUMP00000202742;late secretory pathway protein AVL9 homolog protein-coding 28994 13788 612927 PROVISIONAL 1353971 AVPI1 arginine vasopressin-induced 1 10 10 10 q24.2 93174490 93184285 - 99427171 99436960 - 99437181 99447015 - 6480464 15498874;15489334;15164054;12477932;12356727;9110174;8619474;8125298;16385451;20098747;21832049 60370 Q5T686 ABBA01021791;ABBA01021792;AF131791;AF218019;AF241786;AK024533;AK222493;AK223099;AL355315;AMYH01002978;BC000877;CH471066;NM_021732 AAG17261;AAG44474;AAH00877;ABM82691;ABM85875;BAD96213;BAD96819;EAW49904;EAW49905;NP_068378;Q5T686 Hs.23918 2140089 WI-11858 PP5395;RP11-548K23.7;VIP32;VIT32 AVP-induced protein 1;OTTHUMP00000020225;arginine vasopressin-induced protein 1;vasopressin-induced transcript protein-coding ENSG00000119986 30898 16530 VALIDATED 68968 AVP arginine vasopressin This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). [provided by RefSeq, Mar 2010] 20 20 p13 3011202 3013370 - 3063202 3065370 - 1579880;734624;1579871;1601243;1580863;1601303;1601304;1601305;1358326;2301917;2301918;2301919;2301924;2304139;2301922;1579891;2303174;2312656;6480464;6907045;7240710 12590641;8945633;12438923;16582573;16497839;15897635;12623976;12942143;18578860;18494865;18420743;18987488;17393298;17940875;14624682;18925713;18431594 21519298;1740104;8794883;19114902;19086053;18807739;18673414;18384079;18316776;18272843;18256370;18172431;18092379;17927668;16333859;15624761;15538939;15489334;15356057;15203290;15070970;14996841;14673472;14660745;14607844;14510916;13591312;12931042;12566732;12519420;12477932;12403649;12364435;12359138;12107248;12012274;11980620;11857925;11836335;11780052;11748489;11713645;11443218;11384615;11161827;11150885;11017955;10677561;10487710;10443701;10369876;9814475;9580132;9467595;9360520;8989232;8626836;8554046;8550751;8514868;8370682;8106369;8103767;8045958;7929452;7921229;7714110;7271787;6574452;6153132;4065330;3768139;3390991;2991279;2874053;2521920;1978246;1968469;1840604;22516290;14579113;16971491;20620528;21834801;18240029;18538351;18995178;19129716;19260089;19337789;19366852;19500216;19564455;19638944;19672816;19821843;19825939;19847155;19897608;20010879;20368512;20439785;20468064;20508186;19945299;20144509;20413521;12036966;21437268;21123762;19942636;21490073;21088058;18402937;22307687;21498630;21915168;21752550;21554881;21106053;21501333;21216019;22921847;19322201;21766239;21960250;21677651;22286033;22245314;22524462;22954353;22644838;22832391;22820037;16274233;17075130;23584859;23589638;23326397;23515451 551 P01185;Q9UMM9 ABBA01053808;AF031475;AF031476;AI478178;AL160414;AMYH01011672;BC018062;BC126196;BC126224;BG715518;CH471133;M11166;M25647;M63733;M63734;NG_008663;NM_000490;X03172;X62890;X62891 AAA61291;AAA69844;AAA98772;AAB86628;AAB86629;AAI26197;AAI26225;CAA26935;CAA44681;CAA44682;EAX10554;NP_000481;P01185 Hs.89648 1684238 RH98810 ADH;ARVP;AVP-NPII;AVRP;VP OTTHUMP00000030089;antidiuretic hormone;arginine vasopressin;arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal);neurohypophyseal;prepro-AVP-NP II;prepro-arginine-vasopressin-neurophysin II;vasopressin-neurophysin 2-copeptin;vasopressin-neurophysin II-copeptin APPROVED protein-coding ENSG00000101200 894 01891 125700;192340 REVIEWED 1346796 AWAT1 acyl-CoA wax alcohol acyltransferase 1 The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009] X X X q13.1 69807845 69813851 + 69371271 69376865 + 69454505 69460511 + 6480464 15772651;15671038;14970677;12477932 158833 Q58HT5 ABBA01067544;ABBA01067545;AL357752;AMYH01022525;AY947638;BC039181;BN000155;CH471132;NG_013225;NM_001013579;W68831 AAI46429;AAI53035;AAX48018;CAD89266;EAX05353;NP_001013597;Q58HT5 Hs.407641 1701814;2219076 DGAT2L3__4699;DXS1399 DGA2;DGAT2L3 OTTHUMP00000023471;acyl-CoA wax alcohol acyltransferase 1;diacyl-glycerol acyltransferase 2;diacylglycerol O-acyltransferase 2-like 3;diacylglycerol O-acyltransferase 2-like protein 3;diacylglycerol acyltransferase 2;long-chain-alcohol O-fatty-acyltransferase 1 APPROVED protein-coding ENSG00000204195 23252 10296 REVIEWED 68986 AVPR1A arginine vasopressin receptor 1A The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008] 12 12 q14-q15 61826483 61832857 - 63536539 63546590 - 734625;1579891;1580863;1358326;2300375;2300333;2300334;2300323;2300348;2300322;2300376;2300319;2300330;2300372;2300337;2300338;6480464 10466725;14624682;12942143;16671476;14647048;12641544;15613739;17347933;15657301;16423716;17653244;15475662;17244947;18508119;18467593 10858434;8106369;8838314;19461995;19195791;19086053;19056558;18765804;18655900;18490926;18384079;17939166;17728669;17696996;17440932;16721832;16565083;16520824;16333859;16205790;15994199;15489334;15098001;14757828;14622255;12869559;12477932;12436935;12082568;10756113;10478574;10477084;9581826;9357056;8344200;8074728;8012384;20413116;16754659;18240029;19350216;19598235;19874574;20142561;20368512;20452058;20468064;20546835;19913121;20628086;18402937;22764113;20889332;21307861;21514569;21747049;21980412;22288734;22384070;22457427;22008661 552 F8VW98;P37288 AA533159;ABBA01026625;AC135584;AF030625;AF101725;AF208541;AMYH01004539;AY322550;BC074803;BC074804;CH471054;DQ177277;L25615;NM_000706;S73899;U19906;Z59305 AAA62271;AAB19232;AAC51861;AAC60638;AAD17891;AAF18470;AAH74803;AAH74804;AAP84363;ABA02557;EAW97115;NP_000697;P37288 Hs.2131 1721543;1774655;2161982;5110819 D12S1901;G59776;RH48734;STS-L25615 AVPR V1a;AVPR1;V1aR AVPR V1a;OTTHUMP00000242555;SCCL vasopressin subtype 1a receptor;V1-vascular vasopressin receptor AVPR1A;V1a vasopressin receptor;V1aR;antidiuretic hormone receptor 1A;vascular/hepatic-type arginine vasopressin receptor;vasopressin V1a receptor APPROVED protein-coding 895 02894 600821 REVIEWED 1345749 AXPC1 ataxia, posterior column 1, with retinitis pigmentosa 7240710 9409377;9921862 559 906 609033 1343191 AZF1 azoospermia factor 1 7240710 560 908 415000 1606441 AWAT2 acyl-CoA wax alcohol acyltransferase 2 This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010] X X X q13.1 69613775 69623166 - 69177117 69186513 - 69260392 69269788 - 6480464;6907045 16106050;15671038;15489334;15220349;14970677;12477932;20374941 158835 H0YAL0;Q6E213 ABBA01067524;AL158141;AMYH01022522;AY605053;BC063698;BN000156;CH471132;NG_021246;NM_001002254 AAH63698;AAI46453;AAI53071;AAT68764;CAD89267;EAX05358;NP_001002254;Q6E213 Hs.661507 1701092;2109235 DGAT2L4__4700;RH104173 ARAT;DC4;DGAT2L4;MFAT;WS OTTHUMP00000217280;acyl-CoA retinol O-fatty-acyltransferase;acyl-CoA wax alcohol acyltransferase 2;diacylglycerol O-acyltransferase 2-like protein 4;diacylglycerol O-acyltransferase candidate 4;long-chain-alcohol O-fatty-acyltransferase 2;multifunctional O-acyltransferase;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000147160 23251 16799 REVIEWED 1342951 AZF2 azoospermia factor 2 561 909 730975 AVPR2 arginine vasopressin receptor 2 This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008] X X q28 152823564 152825834 + 153167985 153172620 + 1579891;1580863;734626;1298694;628560;2314013;2314015;2314019;2314016;2314017;2314018;2312654;2312656;6480464;6907045;7240710 14624682;11091117;12072411;11882591;19816050;18489790;17020465;17941907;17550212;17371330;18971210;18431594 10858434;18578504;8882880;10880054;9224808;1303257;10749568;19449677;19440390;19179480;19094077;19086053;18753429;18726898;18358546;18323675;18288441;18199683;17626156;17389737;17229917;17216256;17101063;16845277;16825342;16580609;16563128;16333859;16267275;16240160;16162341;16115624;15872203;15489334;15452133;15319442;15319430;14757828;12960162;12900404;12482593;12477932;12473660;12436935;12409230;11923476;11916004;11868598;11857925;11754100;11476731;11232028;11026555;10770218;10694923;10561596;10477084;9711877;9581826;9402087;8999963;8735975;8621513;8514744;8479490;8267567;8078903;8045948;8037205;7999078;7987330;7984150;7833930;7560098;2714800;1534150;1534149;1415251;1356229;1324225;1303271;15782186;20403097;20389105;18240029;19170711;19542240;19638944;19703807;19812297;19996159;20159941;20237496;19913121;20628086;12036966;20301356;19217806;20683494;22879391;23604254;18048502;22965914;21575724;21574774;22145481;21917732;19372219;20974815;22144672;22052024;22386940;23236378;22644838;23364801 554 C9JV81;F8WET1;P30518 ABBA01045342;ABBA01045343;ABBA01045344;ABBA01045345;ABBA01045346;ABBA01045347;AF030626;AF032388;AF101727;AF101728;AMYH01023303;AY242131;BC015746;BC033090;BC041642;BC080603;BC101484;BC112181;BG830436;CH471172;FJ411207;L22206;NG_008687;NG_009645;NM_000054;NM_001146151;NR_027419;U04357;U52112;Z11687 AAA03651;AAB86428;AAB87678;AAC09005;AAD16444;AAD16445;AAI01485;AAI12182;AAO92298;ACR39021;CAA77746;EAW72783;EAW72784;EAW72785;NP_000045;NP_001139623;P30518 Hs.567240 1702050;1742845;1743951;1744865;1745481;1745483;1745485;1745487;1745489;1745491;1745493;1745495;1745497;1745499;1745503;1745505;1745507;1745509;1745511;1745513;1745515;1745517;1794474;1801248;1801368;1802534;1802906;1803124;1803260;1803970;1804822;1805584;1805934;1806400;1809558;1812288;1812574;1816456;1817150;1817982;1818872;1819318;1820984;1821048;1821050;1821188;1821592;1821856;1824322;1825200;1825668;1827218;1832980;1835646;1838254;1839594;1843974;1844688;1845140;2033854;2033856;2033858;2033860;2033862;2033864;2033866;2033868;2033870;2033872;2033874;2033876;2033878;2033880;2033882;2033884;2033886;2033888;2033892;2033894;2033896;2033898;2033900;2033902;2033904;2033906;2033908;2033910;2033912;2033914;2033916;2033918;2033920;2033922;2033924;2033926;2033928;2033930;2033942;2033944;2033946;2033948;2033950;2033952;2033954;2033956;2033960;2033962;2033964;2033966;2033968;2033972;2033974;2033976;2033978;2033980;2033982;2033984;2033986;2033988;2033990;2033992;2033994;2033996;2033998;2034000;2034002;2034004;2034006;2034008;2034010;2034012;2034014;2034016;2034018;2034022;2034024;2034026;2034028;2034030;2034032;2034038;2034040;2034042;2034044;2034046;2034048;2034050;2034052;2034054;2034056;2034058;2034060;2034062;2034064;2034066;2034068;2034070;2034072;2034074;2034076;2034080;2034084;2034086;2034088;2034090;2034092;2034096;2034098;2034100;2034102;2034104;2034106;2034108;2034110;2034112;2034118;2034120;2034122;2034124;2034130;2034132;2034134;2034136;2034138;2034148;2034152;2034154;2034156;2034158;2034160;2034162;2034164;2034166;2034168;2034170;2034172;2034174;2034176;2034178;2034180;2034182;2034184;2034186;2034188;2034190;2034192;2034194;2034196;2034198;2034200;2034202;2034204;2034206;2102096;2102098;2116353;2137998 DXS8147;ECD01496;ECD01556;ECD02153;ECD02342;ECD02453;ECD02523;ECD02899;ECD03345;ECD03740;ECD03920;ECD04156;ECD05771;ECD07151;ECD07297;ECD09270;ECD09625;ECD10046;ECD10500;ECD10726;ECD11568;ECD11601;ECD11602;ECD11671;ECD11882;ECD12014;ECD13259;ECD13701;ECD13942;ECD14724;ECD17631;ECD18979;ECD20301;ECD20980;ECD23199;ECD23558;ECD23787;GDB:195164;GDB:210765;GDB:377315;GDB:574063;GDB:618098;GDB:618230;GDB:618289;GDB:618293;GDB:618341;GDB:618400;GDB:618484;GDB:618487;GDB:618831;GDB:618836;GDB:618842;GDB:618846;GDB:618849;GDB:618851;GDB:618866;GDB:619117;GDB:619157;GDB:619161;PMC314363P1;REN87936;REN87937;REN87938;REN87939;REN87940;REN87941;REN87942;REN87943;REN87944;REN87945;REN87946;REN87947;REN87948;REN87949;REN87950;REN87951;REN87952;REN87953;REN87955;REN87956;REN87957;REN87958;REN87959;REN87960;REN87961;REN87962;REN87963;REN87964;REN87965;REN87966;REN87967;REN87968;REN87969;REN87970;REN87971;REN87972;REN87973;REN87974;REN87980;REN87981;REN87982;REN87983;REN87984;REN87985;REN87986;REN87987;REN87989;REN87990;REN87991;REN87992;REN87993;REN87995;REN87996;REN87997;REN87998;REN87999;REN88000;REN88001;REN88002;REN88003;REN88004;REN88005;REN88006;REN88007;REN88008;REN88009;REN88010;REN88011;REN88012;REN88013;REN88014;REN88015;REN88016;REN88017;REN88018;REN88020;REN88021;REN88022;REN88023;REN88024;REN88025;REN88028;REN88029;REN88030;REN88031;REN88032;REN88033;REN88034;REN88035;REN88036;REN88037;REN88038;REN88039;REN88040;REN88041;REN88042;REN88043;REN88044;REN88045;REN88046;REN88047;REN88049;REN88051;REN88052;REN88053;REN88054;REN88055;REN88057;REN88058;REN88059;REN88060;REN88061;REN88062;REN88063;REN88064;REN88065;REN88068;REN88069;REN88070;REN88071;REN88074;REN88075;REN88076;REN88077;REN88078;REN88083;REN88085;REN88086;REN88087;REN88088;REN88089;REN88090;REN88091;REN88092;REN88093;REN88094;REN88095;REN88096;REN88097;REN88098;REN88099;REN88100;REN88101;REN88102;REN88103;REN88104;REN88105;REN88106;REN88107;REN88108;REN88109;REN88110;REN88111;REN88112;RH70970;stSG603678;stSG603679 ADHR;DI1;DIR;DIR3;MGC126533;MGC138386;NDI;V2R AVPR V2;OTTHUMP00000026011;OTTHUMP00000026013;OTTHUMP00000198719;antidiuretic hormone receptor;renal-type arginine vasopressin receptor;vasopressin V2 receptor APPROVED protein-coding ENSG00000126895 897 02368 300538;300539;304800 REVIEWED 1605000 AXDND1 axonemal dynein light chain domain containing 1 1 1 1 q25.2 152443132 152631501 + 177601738 177790493 + 179334855 179523870 + 6480464 19010793;14702039;12477932;19536175;20379614;19913121;20628086 126859 A6H900;B1AM31;D6R9B7;D6RB87;D6RCN1;D6RDY4;D6REE1;F5GWM2;Q5T1B0 ABBA01027812;ABBA01027813;ABBA01027814;AK057502;AK058167;AK093460;AK302972;AL160286;AL451075;AL833914;AMYH01001531;AMYH01001532;BC146823;BX647935;CH471067;NG_033075;NM_144696;NR_073544 AAI46824;BAB71513;BAB71698;BAH13864;CAD38770;CAH10571;EAW91045;EAW91046;EAW91047;EAW91048;NP_653297;Q5T1B0 Hs.658505 1682958;1688554;1751427;1763875;1774132;1792462;1792464;2113654;2149907;2190751;2219196 AB072743;AL009566;D6S1233E;NPHS2__6070;PMC151634P5;PMC151634P6;RH92018;SHGC-105252;SHGC-147545;SHGC-75886;UniSTS:265599 C1orf125;DKFZp686H1423;FLJ25438;FLJ32940;RP11-215I23.2 OTTHUMP00000033197;OTTHUMP00000033198;OTTHUMP00000217214;axonemal dynein light chain domain-containing protein 1;hypothetical protein LOC126859 APPROVED protein-coding ENSG00000162779 26564 08740 VALIDATED 1345717 AZGP1P1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 7 7 7 q22.1 94312859 94319989 + 99416332 99423256 + 99578385 99581860 + 12477932;10737800;8307568;8241150;22118674 646282 AACC02000084;ABBA01013242;AC004522;AK307369;AMYH01017726;CH236956;NR_036679;X70169;X70170;X70171;X70172 Hs.721816 pseudo ENSG00000214313 911 VALIDATED 736564 AXIN1 axin 1 This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 16 16 p13.3 277441 342465 - 337440 402676 - 1300371;1580863;2293188;6480464;6484113;6907045;7240710 10700176;18432252 18593713;10644691;9230313;9482734;16188939;12072559;11955436;12000790;12820959;15327769;16753179;19331826;19141611;19131971;18708403;18632848;18330950;18171349;17768662;17720811;17418091;17143297;17018282;16868183;16773576;16772034;16601693;16293619;16169070;16163548;15981102;15698401;15616553;15579909;15526030;15520370;15489334;15355978;15262978;15064706;15063782;14970870;14630927;14566817;14534723;12897152;12883680;12805222;12771989;12717450;12556519;12555076;9601641;12554650;12477932;12223491;12209999;12192039;12138115;12101426;12036951;11997515;11884395;11809808;11719457;11557983;11487578;11438668;11336703;11297546;11157797;10829020;10811618;10698523;10581160;10488109;10330403;10228155;9920888;9734785;9335612;9054936;10428961;12511557;17353931;21478859;22524844;21242974;17318175;17510365;17588722;18514389;19249679;19303846;19390532;19453261;19513548;19582507;19633924;19731416;19778269;20098615;20122174;20128690;20379614;17569865;12421363;16199882;17210684;20844743;16890161;20846493;19913121;20628086;21087614;21648318;19038973;19759537;21057547;21769465;21383061;23455922;23671587;23826318;23879168;21799911;21502811;22234612;22613765;20858899;21808024;21902576;22270359;22682247;12417018;20531388;21795712;22509369;22614067;23192643;18762581;23110995;19202075;21988832;22504420;23277359;12584189;22933777 8312 H0Y830;O15169 AB208876;ABBA01030376;ABBA01030377;ABBA01030378;AC004652;AC005202;AE006463;AF009674;AMYH01006989;AMYH01006990;BC017447;BC035872;BC044648;BX648449;CH471112;DB460285;NG_012267;NM_003502;NM_181050;Z69667;Z99754 AAC51624;AAH17447;AAH44648;AAK61224;BAD92113;CAI95589;CAI95590;CAQ09649;EAW85835;EAW85836;NP_003493;NP_851393;O15169 Hs.592082 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AXIN;MGC52315;PPP1R49 OTTHUMP00000067405;OTTHUMP00000067406;axin-1;axis inhibition protein 1;axis inhibitor 1;fused, mouse, homolog of;gsk-3beta interacting protein raxin;hAxin;protein phosphatase 1, regulatory subunit 49 APPROVED protein-coding ENSG00000103126 903 04819 114550;603816;607864 REVIEWED 1349667 AXIN2 axin 2 The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008] 17 17 q23-q24 60955143 60988227 - 63524681 63557740 - 1580863;2293188;1643593;6480464;6907045;7240710 18432252;16488995 10049590;12072559;19270026;19119171;19065536;18755497;18708403;18683894;18676680;18384130;18372914;18330950;17373666;17143297;17072303;17002498;15489334;15042511;12477932;12183362;11940574;11474173;11017067;10966653;10647780;8889548;10021369;15304487;15611123;16941501;16820935;16601693;16432638;16344560;16247484;15766563;22322943;21541676;20300119;19336002;20844743;21069480;20613673;20635389;11438668;17927870;18790474;19170196;19584075;19623616;19625176;19692168;19816326;19888426;20056645;20219685;20403997;20453000;20508983;9566905;19759537;21294210;21383061;23393221;23455922;21706018;21799911;21626677;21733995;21666490;21890473;22370446;20128690;22745173;23169889;22887353 8313 E7ES00;F5GX43;J3QQJ3;J3QRK4;Q9Y2T1 AB052751;ABBA01029043;ABBA01029044;ABBA01029045;AC115994;AF078165;AF205888;AK025718;AK315303;AMYH01008571;BC006295;BC101533;BC143244;BE670767;CB306601;CH471099;CR933657;CX756263;CX759580;DA785881;DA839648;NG_012142;NM_004655 AAD20976;AAF22799;AAH06295;AAI01534;AAI43245;BAB19762;CAI45956;EAW89003;EAW89004;EAW89005;EAW89006;NP_004646;Q9Y2T1 Hs.156527 1783540;2217052 AXIN2_3354;SHGC-153718 AXIL;DKFZp781B0869;MGC10366;MGC126582;ODCRCS axin-2;axin-like protein;axis inhibition protein 2;conductin APPROVED protein-coding ENSG00000168646 904 04935 114500;604025;608615 REVIEWED 1350566 AZGP1P2 alpha-2-glycoprotein 1, zinc-binding pseudogene 2 7 7 7 q22.1 95939923 95942252 - 100717337 100719770 - 100930760 100933089 - 12853948;12477932;8307568;8241150 401393 ABBA01011338;AC006329;AMYH01017751;NG_008494 pseudo 912 INFERRED 1323764 AXL AXL receptor tyrosine kinase The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 q13.1 46416948 46459511 + 41725108 41767671 + 1579938;1580863;1579881;1579882;2325834;2325833;6480464 15619028;16285961;11290560;10528229;19252414 12470648;18760998;19657094;22489801;1656220;19541935;19055724;18840707;18673450;18620092;18522535;18345028;18172262;17255529;17005688;16831897;16641895;16585512;16556867;16362042;16354588;16344560;15964779;15958209;15733062;15605394;15507525;15130893;14750094;14729616;14565870;12768229;12490074;12477932;12364394;12029073;9492013;9178760;9130617;8621659;8610109;8381225;8247543;7822279;7521695;2247464;1834974;1729376;8939948;23071254;21135257;22516347;20603615;19567592;19633687;19815557;19888345;20080645;20145042;20088931;20637106;21047970;20417630;19913121;20628086;20664904;20442363;20546121;20818175;21068757;21343401;21057535;21076472;21132014;20922806;21842265;21501828;21529875;21317930;21384080;21496277;23523856;21796150;21555911;22318606;22833165;23321254;21987572;22187964;21814748;21139048;21906983;22141136;22156524;21822309;19322201;22751098;22836088;23117882;8889549;21963094;22939624;23000965;23077658;23298489;23361052;22410775;22844123;23629654;23372686;7854420 558 M0R0W6;P30530 AA021223;ABBA01040801;ABBA01040802;ABBA01040803;AC011510;AI300772;AI309979;AK309139;AK310881;AL556721;AMYH01009819;BC032229;CA437238;CH471126;DA478638;HI464132;HI464134;HY045208;M76125;NM_001278599;NM_001699;NM_021913;S65125;X57019;X66029;X66030 AAA61243;AAB20305;AAH32229;ABM85043;CAA40338;CAA46829;CBX54237;CBX54238;EAW57022;EAW57023;NP_001265528;NP_001690;NP_068713;P30530 Hs.590970 1742015;1742017;1857077;2138338;2158132;2158134;2158284;2165877;5014019;5119931;5119933;5119935;5119937;5119959;5493856 Axl;D5S2354;GDB:188778;GDB:188779;GDB:188780;GDB:188781;GDB:188782;GDB:188783;GDB:191076;RH11461;RH36144;SHGC-12719;STS-T15634;STS-T27746;STS-W84423 JTK11;UFO AXL oncogene;AXL transforming sequence/gene;oncogene AXL;tyrosine-protein kinase receptor UFO APPROVED protein-coding ENSG00000167601 905 00171 109135 REVIEWED 1352190 B2MR beta-2-microglobulin regulator 7061176 568 915 109710 735517 AZGP1 alpha-2-glycoprotein 1, zinc-binding 7 7 q22.1 99402286 99411623 - 99564350 99573735 - 6480464 21790656;22425975;10206894;6896906;10462714;9813179;14718574;19188554;18978557;18930737;18663996;18567794;17724461;16740002;16598739;16475792;16335952;15620688;15477100;15340161;15084671;14983038;14760718;13689030;12853948;12690205;12477932;11425849;10737800;10594376;9328826;9239523;9114041;8889548;8307568;8241150;3422450;2049092;1918940;1915885;15862967;21319273;20581862;19351730;19615732;19622624;19846741;19934249;20070991;19549246;16712791;20595026;20683033;16341674;21245862;23272038;21457004;22625427;21443201;21432866;22442679;20360068;21139048;22118674;23393224;22498882;21988832;22935975;21791968;22739111 563 C9JEV0;H7BZJ8;P25311 AA583051;AACC02000084;ABBA01013242;AC004522;AI678968;AMYH01017726;AW015837;BC005306;BC005908;BC014470;BC033830;BM796305;CB148270;CB305376;CH236956;CH471091;D14034;D90427;M76707;NM_001185;X59766;X69953 AAA61311;AAH05306;AAH05908;AAH33830;BAA03123;BAA14417;CAA42438;CAA49574;EAL23862;EAW76621;EAW76622;EAW76623;NP_001176;P25311 Hs.546239 1694988;2143016;2157797 AZGP1;D7S2320;G44707 ZA2G;ZAG Alpha-2-glycoprotein, zinc;OTTHUMP00000024684;OTTHUMP00000210306;Zn-alpha2-glycoprotein;alpha-2-glycoprotein 1, zinc;zinc-alpha-2-glycoprotein;zn-alpha-2-GP;zn-alpha-2-glycoprotein protein-coding ENSG00000160862 910 01910 194460 VALIDATED 1345072 AZU1 azurocidin 1 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Jul 2008] 19 19 p13.3 778831 783017 + 827831 832017 + 1580863;6480464 11994286;10534120;12465046;10510329;11861296;12678126;1919011;12826073;19151333;18346022;15879141;15489334;15304323;15057824;15020208;14515154;12477932;12438368;12351811;12135665;12054586;11980855;11891183;11170199;10572086;9761855;9095193;8621683;8506327;2501794;2406527;2404977;2332502;2312733;2226832;2049091;2026172;1897955;1755383;1518849;18787642;19590686;20056178;20107486;17207965;20399025;20083497;22207392;18624398;22145905;22278372 566 P20160;Q86SR2 ABBA01002601;AC004799;AMYH01009204;BC044940;BC069495;BC093931;BC093933;CH471139;M96326;NM_001700;X58794 AAB59353;AAH44940;AAH69495;AAH93931;AAH93933;ADQ32951;CAA41601;EAW69592;NP_001691;P20160 Hs.72885 1662123;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;STS-M96326 AZAMP;AZU;CAP37;HBP;HUMAZUR;NAZC azurocidin;cationic antimicrobial protein 37;cationic antimicrobial protein CAP37;heparin-binding protein;neutrophil azurocidin APPROVED protein-coding ENSG00000172232 913 01221 162815 REVIEWED 1346806 AZI1 5-azacytidine induced 1 17 17 17 q25.3 75792729 75827295 - 76777988 76811346 - 79163393 79196751 - 1580863;6480464 14654843;17081983;16964243;15489334;12477932;10470851;9070930;8889548;8529672;12359729;17452972;18029348;11076968;12221128;12852856;16462731;7790358;20811636;23137637;18062773;21139048;21890473;21906983;20185758;20360068;21956701;21963094;22797915;23000965;23382691;22505724 22994 I3L2J8;I3L2X7;I3L316;I3L4M5;Q9UPN4 AB029041;ABBA01032129;ABBA01032130;ABBA01032131;ABBA01032132;AC027601;AI955901;AMYH01008707;BC010413;BC011615;BC012130;BC040023;BC136578;BC136580;BC144263;BE732160;BE734213;BG773915;BU742835;BX394713;CH471099;NM_001009811;NM_014984 AAH11615;AAI36579;AAI36581;BAA83070;EAW89631;EAW89632;NP_001009811;NP_055799;Q9UPN4 Hs.514578 1651109;1757985 RH16520;SHGC-147035 AZ1;Cep131;ZA1 5-azacytidine-induced protein 1;OTTHUMP00000163603;centrosomal protein 131 kDa;centrosomal protein of 131 kDa;pre-acrosome localization protein 1 protein-coding ENSG00000141577 29511 16532 613479 VALIDATED 735892 B2M beta-2-microglobulin This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Sep 2009] 15 15 q21-q22.2 42790977 42797649 + 45003685 45010357 + 1601306;1599429;1601309;2311238;2311237;2311236;2311235;2311211;2311212;6480464;6482693;6482692;6482690;6482706;6482701;6482712;6482704;6482705;6482731;6482713;6483039;6482703;6482709;6482710;6484113;6482707;6482685;6907045;7240710 15957539;16549777;15517379;11572996;12567748;15127324;15446308;17634209;16221094;20015205;16575857;15837577;7605592;22335434;18777138;21314441;9067691;17214095;18469311;16282467;21546482;19527385;18795399;1402029;19536607 12118248;18029348;15569716;11513152;15304001;19284997;19265139;19232323;19140844;19136889;19059216;19017634;19010783;18841160;18835879;18835253;18801425;18765525;18753422;18713542;18708068;18704411;18695889;18568448;18506145;18424782;18393655;18342332;18257814;18245532;18215070;18211100;18164932;18046451;18036353;18024396;18022010;17929129;17852800;17766066;17693474;17681531;17646174;17641012;17597407;17543888;17499801;17498802;17373663;17348447;17244347;17108084;16919295;16901902;16891806;16846219;16841247;16740750;12480693;12477932;12471623;12464008;12454016;12192077;12119416;12085191;12023961;12006623;11967567;11967566;11943769;11914379;11894933;11877296;11849381;11847272;11801591;11738047;11676539;11502003;11257307;11169396;10948205;10933786;10791995;10731476;10515878;10221650;10199391;10064069;9751712;9714695;9605335;9545232;9228302;9110174;8769474;8624812;8619474;8432869;8076819;7862664;7554280;6171820;4586824;3312414;3309677;3060434;3048575;2674742;16704420;16601119;16518752;16511243;16509252;16491092;16475820;16403526;16375919;16331970;16322574;16126222;16122756;16108498;16098535;16053447;16046408;16024039;15766269;15667222;15623356;15616564;15610257;15498554;15494406;15489334;15249659;15194307;15185972;14699107;14698299;14681859;12968074;12958308;12911560;12897781;12860118;12860117;12850147;12833155;12818210;12738401;12531797;12516095;12488093;12480959;2450918;2413854;2289831;2038058;1737380;1448153;1390678;93026;16169070;14764708;17057332;20558175;19829086;17618570;20831744;12415263;18088490;18674763;19148137;19393661;19410618;19483161;19518133;19596084;19728333;19754160;19824733;19874554;20028983;20071336;20088607;20089652;20186038;20237496;20335170;20351246;20372847;20444690;20662519;19913121;20587875;20628086;21086121;22577117;22683352;22833104;21068391;21131979;21232804;21332340;20828817;21216953;21220305;21376205;22793795;21107472;21699748;8805302;21127468;21624083;18781797;21525950;18624398;20805697;21718071;22524657;21139048;21870705;22137796;22373550;22353804;22211248;21953582;22065046;22566695;17055437;22693999;22475215;22595828;20618438;22859396;22895515;23417110;22307441;23242610;23329840;21963094;23144825;23229474;22797889;18543331;21085635;21919032;15723809;22710694 567 F5H6I0;H0YLF3;J3KNU0;P61769;Q16446 AB021288;ABBA01039195;AC025270;AC122108;AF072097;AI686916;AK026463;AK303560;AK315776;AMYH01006612;AY007153;AY187687;BC032589;BC064910;BU658737;CH471082;CR457066;DQ217933;DQ839493;DQ839494;DQ884406;HH794631;M17987;NG_012920;NM_004048;S54761;S82297;S82300;V00567;X07621 AAA51811;AAB25312;AAD14387;AAD14388;AAD48083;AAG02006;AAH32589;AAH64910;AAO20842;ABB01003;ABI63354;ABI63355;ABI63373;ABM84637;ABM92168;BAA35182;BAG38125;BAG64583;CAA23830;CAG33347;CBX87172;EAW77276;EAW77277;EAW77278;NP_004039;P61769 Hs.534255 1725827;1744457;1770875;1791814;1792480;1794512;2162030;2179254;5122349 D15S799;G62079;GDB:454836;PMC126239P1;PMC151806P1;PMC316580P7;RH76;SGC31499;STS-S82300 OTTHUMP00000161912;beta chain of MHC class I molecules;beta-2 microglobulin;beta-2-microglobin;beta-2-microglobulin APPROVED protein-coding 914 00189 109700;241600 REVIEWED 1605352 AZI2 5-azacytidine induced 2 AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008] 3 3 3 p24.1 28300308 28327081 - 28339090 28365579 - 28363845 28390618 - 6480464;6907045 22539786;17982077;17142768;16344560;15611223;15489334;14743216;14702039;14560022;12477932;10580148;8889548;12359729;18029348;21903422;21139048;21906983 64343 C9JGA2;C9JVK8;H7C1Z1;Q9H6S1 ABBA01024980;AC098616;AF044917;AF044918;AK025592;AK290637;AMYH01013047;AY151386;BC001139;BC001853;BG777644;BM546093;BM982133;BX327318;BX386357;BX648471;CB995808;CF528511;CH471055;CS185540;DA485515;NM_001134432;NM_001134433;NM_001271650;NM_022461 AAF22368;AAF22369;AAO05967;BAB15182;BAF83326;CAJ42721;EAW64392;EAW64393;EAW64394;EAW64395;EAW64396;EAW64397;EAW64398;NP_001127904;NP_001127905;NP_001258579;NP_071906;Q9H6S1 Hs.706676 1681076;1852943;2119800;2133748 RH91098;SGC32735;SHGC-36571;STS-H03343 AZ2;NAP1;TILP 5-azacytidine induced gene 2;5-azacytidine-induced protein 2;NAK-associated protein 1;NF-kappa-B-activating kinase-associated protein 1;OTTHUMP00000161132;OTTHUMP00000208432;OTTHUMP00000208433;OTTHUMP00000208434;OTTHUMP00000226938 APPROVED protein-coding ENSG00000163512 24002 10577 609916 VALIDATED 1345395 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013] 1 1 1 q42.3 208853777 208911041 - 233679867 233734404 - 235610533 235667781 - 6480464 16710414;15489334;14724282;14702039;12477932;21890473;23453667;22268729 148789 Q8NCR0 AB209046;ABBA01033137;AK091497;AK130297;AK311626;AL135928;AL672237;AMYH01001846;AMYH01001847;AW513183;BC016974;BC029564;BQ221255;CH471098;FO393422;NG_033219;NM_001277155;NM_152490 AAH16974;AAH29564;BAD92283;CAI21727;CAI21728;EAW70026;EAW70027;EAW70028;NP_001264084;NP_689703;Q8NCR0 Hs.498143 1688026;2163340;5015619;5015861;5015961;5020948;5037552;5109281;7185938 D10S16;D11S3114;D15S1477;D1S1425;D8S2279;G35510;RH70688;RH92081 B3GalNAc-T2;MDDGA11;MGC39558 OTTHUMP00000038285;UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2;UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2;beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558);beta-1,3-GalNAc-T2;beta-1,3-N-acetylgalactosaminyltransferase II;beta-1,3-galactosaminyltransferase 2 protein-coding 28596 16533 610194 REVIEWED 731863 AZIN1 antizyme inhibitor 1 Ornithine decarboxylase (ODC) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. Ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. The protein encoded by this gene is highly similar to ODC. It binds to ODC antizyme and stabilizes ODC, thus inhibiting antizyme-mediated ODC degradation. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 100025705 100063568 - 103907712 103945573 - 103838536 103876397 - 633333;1580863;6480464;7244195 9349715;21849468 17353931;15489334;14702039;12878157;12477932;10623564;9110174;8619474;14499622;20215859;21586232;21837750;21931692;21139048;21906983;19322201;21963094;21988832;23291631;22053931 51582 E5RIB7;E5RJ16;O14977 ABBA01037623;ABBA01037624;ABBA01037625;AF070634;AK095493;AK290516;AMYH01018943;AP003354;AP003356;AP003696;AU280209;BC013420;BC019279;BC042404;BT006858;CH471060;CR456745;D88674;NM_015878;NM_148174 AAC25391;AAH13420;AAH19279;AAP35504;ABM81650;ABM83131;ABM83132;ABM86326;BAA23593;BAF83205;BAG53068;CAG33026;EAW91851;EAW91852;EAW91853;NP_056962;NP_680479;O14977 Hs.459106 1647360;1771550;1848515;2146735;2162206;2162208;2172835 A001V45;G19701;HSC12A042;RH18526;WI-19200;WI-9274;WIAF-1666 MGC3832;MGC691;OAZI;OAZIN;ODC1L AZI;OTTHUMP00000227423;OTTHUMP00000227424;antizyme inhibitor 1;ornithine decarboxylase 1-like;ornithine decarboxylase antizyme inhibitor APPROVED protein-coding ENSG00000155096 16432 07443 607909 REVIEWED 1312449 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008] 3 3 q25 162284365 162305854 - 160801671 160823160 - 6480464;6907045 9582303;16344560;15489334;15142124;14702039;12975309;12477932;12023287;10993897;10580128;9405390;8125298;6425294;2829950;2649653;2542563;2541446;2187500;18839200;19264528;17207965;18565761 8706 B3KTQ4;C9J0F8;C9J6I7;C9J8U7;C9JD16;C9JRV6;C9JXR0;E7EVF0;E7EVS2;O75752;Q49AT3;Q7L9G8;Q8TDY1 AB050855;AB050856;AB060691;ABBA01058790;AC021649;AF132731;AF154848;AF494103;AF494104;AF494105;AF494106;AI093705;AI214215;AK022491;AK095917;AK223439;AMYH01013616;AW151434;AY359049;AY505344;AY505345;AY505346;AY505347;BC028571;BC047618;CH471052;CR457170;DA188324;DB172381;DQ158095;NG_007854;NM_001038628;NM_003781;NM_033167;NM_033168;NM_033169;Y15062 AAF66442;AAF72106;AAH28571;AAH47618;AAM96009;AAM96010;AAM96011;AAM96012;AAQ89408;AAS79228;AAS79229;AAS79230;AAS79231;AAZ67917;ADQ32503;BAB14055;BAB17690;BAB17691;BAB91079;BAD97159;BAG53166;CAA75346;CAG33451;EAW78621;EAW78622;EAW78623;EAW78624;EAW78625;NP_001033717;NP_003772;NP_149357;NP_149358;NP_149359;O75752 Hs.418062 1651717;1681598;1697586;1735320;1853960;2147024 D3S2352;D3S2950E;D3S3949;RH102303;RH94057;SHGC-77497 B3GALT3;GLCT3;GLOB;Gb4Cer;P;P1;beta3Gal-T3;galT3 OTTHUMP00000213972;OTTHUMP00000213973;OTTHUMP00000213974;OTTHUMP00000213975;OTTHUMP00000213976;OTTHUMP00000213978;OTTHUMP00000213979;OTTHUMP00000213980;OTTHUMP00000213981;OTTHUMP00000213983;OTTHUMP00000213984;P antigen synthase;P blood group globoside;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group);UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1;UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group);UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase;b3Gal-T3;beta-1,3-GalNAc-T1;beta-1,3-GalTase 3;beta-1,3-galactosyltransferase 3;beta-3-Gx-T3;beta3GalT3;brainiac1;galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase;globoside synthase;globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase;udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3 APPROVED protein-coding ENSG00000169255 918 09119 603094 REVIEWED 1323596 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 2 2 2 q24.3 162284031 162336209 + 168383428 168435612 + 168675182 168727366 + 1580863;6480464;6907045 15815621;15489334;12477932;10580128;10356986;9582303;9417100;2829950;2649653;2542563;2541446;2187500;12925779;23251661;18565761 8708 Q9Y5Z6 AB041407;ABBA01004948;AC016723;AF117222;AMYH01011238;BC101545;BC104813;CH471058;E07739;NM_020981 AAD23451;AAI01546;AAI04814;AAY15002;BAA94492;EAX11306;EAX11307;NP_066191;Q9Y5Z6 Hs.735833 1338140;2218280;5492973;5494055 B3GALT1_4410;D2S2345;UniSTS:480848;UniSTS:483473 MGC126594;beta3Gal-T1 UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1;beta-1,3-GalTase 1;beta-1,3-galactosyltransferase 1;beta-3-galt1;beta3GalT1 APPROVED protein-coding ENSG00000172318 916 04369 603093 REVIEWED 1347261 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] 1 1 1 q31 166257459 166265341 - 191414799 191422347 - 193147860 193155743 - 1580863;6480464;6907045 9417100;16710414;16344560;15489334;12477932;11318611;10580128;9582303;2829950;2649653;2542563;2541446;2187500;17207965;18565761 8707 O43825 ABBA01027636;AF288390;AK314116;AL390863;AMYH01001593;BC022507;CH471067;CS265714;DA116294;NG_012691;NM_003783;Y15060 AAG60610;AAH22507;ADQ32440;BAG36808;CAA75344;CAJ78385;EAW91251;NP_003774;O43825 Hs.518834 1746457;1847722;2219024 B3GALT2_4411;G64641;SHGC-76070 BETA3GALT2;GLCT2;beta3Gal-T2 OTTHUMP00000033797;UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2;beta-1,3-GalTase 2;beta-1,3-galactosyltransferase 2;beta-3-galt2 APPROVED protein-coding ENSG00000162630 917 04313 603018 REVIEWED 1319963 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013] 1 1 1 p36.33 1413233 1416025 - 1157492 1160284 + 1167629 1170421 + 1580863;6480464;6907045 11551958;16710414;12477932;9892646;19913121;20628086;21139048 126792 Q499Z2;Q96L58 ABBA01016023;ABBA01016024;AL162741;AMYH01000117;BC015549;BC041621;BC051719;BE249959;BF002665;BG290330;CH471183;NG_030007;NG_033265;NM_080605 AAH51719;AAI60034;EAW56269;NP_542172;Q96L58 Hs.284284 1851909;2185123;5493157 SHGC-74127;SHGC-74129;UniSTS:484488 EDSP2;SEMDJL1;beta3GalT6 GAG GalTII;OTTHUMP00000001756;UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6;beta-1,3-GalTase 6;beta-1,3-galactosyltransferase 6;beta3Gal-T6;galactosyltransferase II;galactosylxylosylprotein 3-beta-galactosyltransferase protein-coding ENSG00000176022 17978 12509 271640;615291;615349 REVIEWED 2306330 B3GAT3P1 beta-1,3-glucuronyltransferase 3 pseudogene 1 3 3 3 q25.33 158592181 158593614 + 161652779 161654407 + 160170156 160171597 + 11535117 402146 AB049116;ABBA01058796;AC024221;AMYH01013615;NG_005351 5017684 B3GAT3 B3GAT3P;PSIGLCAT-I APPROVED pseudo 35243 INFERRED 1343637 B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34799275 34800960 + 33352895 33354580 + 33244917 33246602 + 1580863;6480464;6907045 9582303;19225246;18193043;16303743;15489334;14574404;12477932;10663566;10580128;8889548;2829950;2649653;2542563;2541446;2187500;16169070;19851445;20594196;21519903;21900206;18565761 8705 B3KQP5;O96024;Q5STJ7 AB022537;AB026730;ABBA01038139;AF063595;AK075312;AK315647;AL031228;AL662820;AL662827;AL844527;AMYH01016243;BC032574;BU740293;CH471081;CR457093;CR759786;CR759817;FJ525877;NM_003782;Y15061 AAG43154;AAH32574;ABW03296;ABW03644;ACN81315;BAA88988;BAG38014;BAG52107;CAA20230;CAA75345;CAG33374;EAX03700;NP_003773;O96024 Hs.534375 1668110;1685556;1694606;2184242 G43302;RH12439;RH12532;RH77 BETA3GALT4;GALT2;GALT4 OTTHUMP00000029128;UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase;b3Gal-T4;beta-1,3-GalTase 4;beta-1,3-galactosyltransferase 4;beta-3-galactosyltransferase 4;gal-T2;ganglioside galactosyltransferase APPROVED protein-coding ENSG00000235863 919 04370 603095 REVIEWED 733365 B3GAT1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 q25 133753608 133787022 - 134248398 134281812 - 6480464;6907045 10783264;19343046;18802400;18383036;18201430;17567734;17035093;16807373;16257185;15879103;15626024;14993226;12883721;12874601;12687271;12477932;12433688;11986319;11788581;10946001;10526176;9110174;8619474;22310831;21056957;20696944;20733159;20229169;19564339;20950796;20525712;19794085;21491089;21908519;22127595;21988832;23287865;22496218;22900004 27087 F5H0S0;Q9P2W7 AB029396;ABBA01031117;AF131769;AK299637;AL834455;AMYH01004147;AP003971;BC010466;CR457098;NM_018644;NM_054025 AAH10466;ABM84250;ABM86204;ABM87639;BAA96077;BAH13084;CAD39115;CAG33379;NP_061114;NP_473366;Q9P2W7 Hs.381050 1672507;2121695;2185957 STS-Z40857;WI-13607;WI-15127 CD57;GLCATP;GLCUATP;HNK1;LEU7;NK-1;NK1 LEU7 antigen;OTTHUMP00000235432;UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1;glcUAT-P;glucuronosyltransferase P APPROVED protein-coding ENSG00000109956 921 06969 151290 REVIEWED 1315510 B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013] 21 21 q22.3 39951124 39956685 + 41029254 41034815 + 1580863;2317558;6480464;6907045 14555842 22001559;10212226;16780588;19225246;17107959;16112824;15489334;15263012;14534330;12477932;10830953;10580128;10406968;2829950;2649653;2542563;2541446;2187500;19136585;19567891;20494980;11058588;11337467;12855703;14686931;16484342;17212986;22101162 10317 Q9Y2C3 AB020337;AB041413;AB041416;ABBA01009331;AF064860;AF145784;AJ006078;AK292951;AL163280;AMYH01012253;AU100432;AW136254;AY372061;BC104862;BC104864;CH471079;DQ645732;DQ645733;DQ645734;DQ645735;DQ645736;DQ645737;DQ645738;NM_001278650;NM_006057;NM_033170;NM_033171;NM_033172 AAF07880;AAI04863;AAI04865;AAR08910;BAA77664;BAA94498;BAA94501;BAF85640;CAB90446;CAB91547;EAX09628;EAX09629;EAX09630;EAX09631;EAX09632;NP_001265579;NP_006048;NP_149360;NP_149361;NP_149362;Q9Y2C3 Hs.733638 2219026;5492851 B3GALT5__4412;UniSTS:483043 B3GalT-V;B3GalTx;B3T5;GLCT5;beta-1,3-GalTase 5;beta-3-Gx-T5;beta3Gal-T5 GlcNAc-beta-1,3-galactosyltransferase 5;OTTHUMP00000109186;UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5;b3Gal-T5;beta-1,3-GalTase 5;beta-1,3-galactosyltransferase 5;beta-3-Gx-T5;beta-3-galactosyltransferase 5;beta3GalT5;homolog of C. elegans Bt toxin resistance gene bre-5 APPROVED protein-coding ENSG00000183778 920 06818 604066 REVIEWED 1604745 B3GALTL beta 1,3-galactosyltransferase-like The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009] 13 13 q12.3 30672112 30804413 + 31774112 31906413 + 6480464;6907045;7240710 18798333;18199743;17032646;16909395;16899492;16344560;15489334;15057823;14702039;12943678;12477932;19796186;20379614;21067481;20301637;21671750;19322201;23455636;22759511 145173 Q6Y288 AA769548;AB101481;ABBA01010122;ABBA01010123;ABBA01010124;AK094979;AK291273;AL137142;AL138965;AMYH01005013;AMYH01005014;AMYH01005015;AMYH01005016;AMYH01005017;AV728071;AY190526;BC031597;BC032021;BC047395;BC068595;BX647932;CH471075;DA290408;DN999521;NG_011732;NM_194318 AAH68595;AAO37647;BAD13528;BAF83962;EAX08483;NP_919299;Q6Y288 Hs.13205 1675770;1679321;1679886;1681777;1738397;1758261;1858275;2113336;2113374;2113432;2113456;2121319;2135545;5092694 A005Q24;D13S1729;D13S1750;D13S1780;D13S1793;D13S664E;G30975;G32270;RH25845;RH48618;RH92132;RH92545;RH92639;SHGC-147825 B3GLCT;B3GTL;B3Glc-T;Gal-T;beta3Glc-T OTTHUMP00000018218;UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like;beta 3-glycosyltransferase-like;beta-1,3-glucosyltransferase;beta-3-glycosyltransferase-like APPROVED protein-coding ENSG00000187676 20207 12513 261540;610308 REVIEWED 1348026 B3GAT2 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008] 6 6 6 q13 71959433 72055143 - 71627790 71723509 - 71571069 71666788 - 1580863;6480464;6907045 16897771;16344560;15470230;15039073;14702039;14574404;12522689;12477932;11853319;20950796;19913121;20628086;21326311;23251661 135152 Q29RV3;Q9NPZ5 AB075843;ABBA01040271;ABBA01040272;AK055248;AK290018;AL121961;AL450320;AMYH01016417;AY070019;AY070110;BC101163;BC101165;BC113995;CH471051;DA782678;NM_080742 AAI13996;AAL57718;AAL58977;BAB70889;BAB85549;BAF82707;EAW48804;NP_542780;Q9NPZ5 Hs.713609 1661027;1673583;1689113;1739949;1853331;1855891;2119078;2136715;2138387;2140889 A003B38;D20S768;D6S1180E.1;D6S1220E;D6S1413;RH15822;RH18293;RH75302;SHGC-30828;WI-13200 GLCATS;KIAA1963;MGC138535 OTTHUMP00000016710;UDP-glucuronosyltransferase S;UDP-glucuronyltransferase S;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2;glcAT-D;glucuronosyltransferase S;uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase APPROVED protein-coding 922 06325 607497 REVIEWED 1323698 B3GAT3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. [provided by RefSeq, Jul 2008] 11 11 q12.3 62139344 62146024 - 62382768 62389647 - 1580863;6480464;6907045 10842173;18400750;17567734;15601778;15522873;15489334;12794088;12477932;11535117;10946001;10526176;9927678;9506957;17207965;21763480;20301725;21882400;21988832 26229 B7ZAB3;E9PNA1;E9PQ60;G3V150;O94766 AB009598;ABBA01003230;AJ005865;AK075166;AK297970;AK310200;AK316228;AMYH01003690;AP001458;BC007906;BC011173;BC019832;BC071961;CH471076;NG_031863;NM_012200 AAH07906;AAH19832;AAH71961;ADQ32307;BAA34537;BAG60280;BAH14599;CAA06742;EAW74042;EAW74043;EAW74044;NP_036332;O94766 Hs.502759 2109077;2128657;2157835;5014051;5017684 B3GAT3;B3GAT3_9473;D8S2278;ROM1;WI-9219 GLCATI OTTHUMP00000236456;OTTHUMP00000236457;OTTHUMP00000236459;Sqv-8-like protein;UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase;galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3;glcUAT-I;glucuronosyltransferase I APPROVED protein-coding ENSG00000149541 923 07564 245600;606374 REVIEWED 1320043 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] 12 12 12 q24 122277574 122281430 + 121254181 121258037 + 122688228 122692084 + 6480464;6907045 14702039;12975309;12477932;11042166;10580128;21145461;16169070;23263486 79369 Q9C0J1 AB049586;ABBA01060479;AC048338;AF321825;AJ130848;AJ278962;AK095746;AL834452;AMYH01004825;AY358940;BC030247;BC031399;CH471054;NM_030765 AAH31399;AAL37219;AAQ89299;ABM82210;ABM85395;BAB21532;BAC04622;CAC45045;CAC82375;CAD39112;EAW98308;EAW98309;NP_110392;Q9C0J1 Hs.363315 1666483;1686096;2167553;2186117 D12S1399;D12S1578;NIB962;RH48119 B3GN-T4;beta3Gn-T4 BGnT-4;OTTHUMP00000239741;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4;beta-1,3-Gn-T4;beta-1,3-N-acetylglucosaminyltransferase 4;beta-1,3-N-acetylglucosaminyltransferase bGn-T4 APPROVED protein-coding ENSG00000176383 15683 12058 605864 REVIEWED 1321569 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 2 2 2 q37.1 226036697 226042236 + 231968579 231971928 + 232260335 232265875 + 1580863;6480464;6907045 17690104;15815621;14706853;12061784 93010 Q8NFL0 ABBA01002057;ABBA01002058;AC017104;AF502430;AK000770;AK126207;AMYH01011556;AMYH01011557;CH471063;NM_145236 AAI40378;AAI48681;AAM61770;AAY24246;BAG54296;EAW70958;EAW70959;NP_660279;Q8NFL0 Hs.299329 2218284;5126374 B3GNT7_4416;G10658 beta3GnT7 BGnT-7;OTTHUMP00000204559;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7;beta 1,3-N-acetylglucosaminyltransferase 7;beta-1,3-Gn-T7;beta-1,3-N-acetylglucosaminyltransferase 7;beta3Gn-T7 protein-coding ENSG00000156966 18811 12512 615313 VALIDATED 1313364 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 19 19 19 q13.2 38731099 38734479 - 46623104 46626475 - 41931264 41934635 - 1580863;6480464 15620693;18826941;15486459;20963502;22901175;21468598 374907 Q7Z7M8 AB175895;ABBA01040808;AC011462;AJ419172;AMYH01009820;AY277592;NM_198540 AAI56489;AAI72521;AAP34405;BAD86525;CAD11601;NP_940942;Q7Z7M8 Hs.441681 B3GALT7;BGALT15;beta3Gn-T8 BGnT-8;UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8;beta galactosyltransferase BGALT15;beta-1,3-Gn-T8;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase 8 protein-coding ENSG00000177191 24139 12510 615357 VALIDATED 1319932 B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 63432751 63435069 - 65869419 65871737 - 66112843 66115161 - 1580863;6480464;6907045 19587235;19261593;16344560;16303743;15489334;12477932;9405606;8125298;23080069;23284715;21926972;21139048 11041 B4DGI0;O43505 ABBA01024083;AF029893;AK075354;AK098389;AK098779;AK225182;AK293715;AK294604;AMYH01003733;AP001107;BC021965;CH471076;DA169103;DQ066422;NG_033202;NM_006876 AAC39538;AAH21965;AAY46155;ABM83632;ABM86883;BAG52119;BAG57146;BAG57791;EAW74517;EAW74518;NP_006867;O43505 Hs.8526 1671534;1767608 STS-W44699;WI-20154 B3GN-T1;B3GNT6;BETA3GNTI;MDDGA13;iGAT;iGNT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase;OTTHUMP00000235058;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase bGnT-6;i-beta-1,3-N-acetylglucosaminyltransferase;poly-N-acetyllactosamine extension enzyme APPROVED protein-coding ENSG00000174684 15685 09270 605517;615287 REVIEWED 1313012 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17807662 17826113 + 17766919 17785385 + 17905919 17924385 + 1580863;6480464;6907045 10072769;17827388;16344560;16303743;15489334;12975309;12477932;11439191;11042166;10737800;10580128;8125298;20424473;17207965;21048031;23300138 10331 M0QX58;M0R199;Q9Y2A9 AB015630;AB049585;ABBA01051232;AC008761;AF293973;AJ130847;AJ278961;AK075434;AK075466;AK225421;AK225478;AK314323;AMYH01009576;AW848963;AY358955;BC066876;BC067423;CH471106;DA385410;DB104034;NG_028981;NM_014256 AAH66876;AAH67423;AAK00849;AAQ89314;ADQ32033;BAA76497;BAB21531;BAG36971;BAG52147;CAC45044;CAC82374;EAW84631;NP_055071;Q9Y2A9 Hs.657825;Hs.69009 1338424;1731505;1758999;1778228;2114608;2131958;5019711;5093158;5128169 A009H37;A009I31;D19S386;D19S915;G32554;G32565;SHGC-151107;SHGC-152107;WI-17661 B3GAL-T8;B3GN-T3;B3GNT-3;HP10328;TMEM3;beta3Gn-T3 BGnT-3;UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8;beta-1,3-GalTase 8;beta-1,3-Gn-T3;beta-1,3-N-acetylglucosaminyltransferase 3;beta-1,3-N-acetylglucosaminyltransferase bGnT-3;beta-1,3-galactosyltransferase 8;beta-3-Gx-T8;beta3Gal-T8;beta3GalT8;core 1 extending beta-1,3-N-acetylglucosaminyltransferase;core1-beta3GlcNAcT;putative type II membrane protein;transmembrane protein 3 APPROVED protein-coding ENSG00000179913 13528 10431 605863 REVIEWED 1320774 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. [provided by RefSeq, Jul 2008] 2 2 p15 62276766 62305370 + 62423262 62451866 + 1580863;6480464;6907045 18826941;16335952;15560372;15489334;14759258;14702039;14686931;14555842;12855703;12477932;12464682;11042166;10580128;9892646;17207965;20062062;21890473;21906983;22446963 10678 Q9NY97 AB049584;ABBA01075382;AC018462;AC093401;AF092051;AF288208;AF288209;AJ006077;AK002009;AMYH01010390;BC030579;BC047933;CH471053;NM_006577 AAD09764;AAF97253;AAF97254;AAH30579;AAH47933;AAX93271;ADQ31689;BAA92031;BAB21530;CAB91546;EAW99977;EAW99978;EAW99979;EAW99980;NP_006568;Q9NY97 Hs.173203 1654531;1685738;1767721;2180250;2218282;5092728 A005U48;B3GNT1_4414;G32292;RH45152;RH48653;WI-17834 B3GN-T1;B3GN-T2;B3GNT;B3GNT-2;B3GNT1;BETA3GNT;BGNT2;BGnT-2 OTTHUMP00000159816;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2;beta-1,3-Gn-T1;beta-1,3-Gn-T2;beta-1,3-N-acetylglucosaminyltransferase bGnT-1;beta-1,3-N-acetylglucosaminyltransferase bGnT-2;beta3Gn-T1;beta3Gn-T2 APPROVED protein-coding ENSG00000170340 15629 09279 605581 REVIEWED 1601928 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 11 11 11 q13.4 74052931 74060511 + 76423083 76430668 + 76745435 76753020 + 6480464;6907045 11821425;16344560;15755813;12477932;19395705;15203218 192134 A8K9Q8;C9JDU9;E9PJ79;Q6ZMB0 AB073740;ABBA01017441;ABBA01017442;AK127544;AK172863;AK292773;AK313682;AMYH01003823;AP000752;BC025357;BC103908;BC103909;BC103910;CD636501;CH471076;DA437068;DA439499;FP884229;NM_138706 AAH25357;AAI03909;AAI03910;AAI03911;BAB88882;BAC87028;BAD18819;BAF85462;BAG36432;EAW75013;NP_619651;Q6ZMB0 Hs.352622 5015961;5020885 D15S1477;L17791 B3Gn-T6;BGnT-6;IMAGE:4907098;MGC119334;MGC119336;MGC119337;beta-1,3-Gn-T6;beta3Gn-T6 BGnT-6;OTTHUMP00000229266;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-Gn-T6;beta-1,3-N-acetylglucosaminyltransferase 6;beta-1,3-N-acetylglucosaminyltransferase protein;beta3Gn-T6;core 3 synthase protein-coding ENSG00000198488 24141 16534 615315 VALIDATED 735674 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008] 3 3 3 q28 181406353 181426501 + 184453726 184473873 + 182971032 182991179 + 70806;1580863;6480464;6907045 11283017 11384981;18483624;15342556;14702039;12477932;8889548;20734064;22411838;21988832 84002 C9IYY0;C9J368;C9J5K2;Q9BYG0 AB045278;AB209517;ABBA01058481;ABBA01058482;AC069417;AF368169;AJ304505;AK074235;AK074424;AK091474;AMYH01013707;BC028058;BF001695;BP270576;BU684277;CH471052;NM_032047 AAH28058;AAK53403;ABM81996;ABM85178;BAB40940;BAD92754;BAG52370;CAC83093;EAW78333;EAW78334;EAW78335;EAW78336;NP_114436;Q9BYG0 Hs.718506 1654658;1686630 RH98948;WI-13813 B3GN-T5;beta3Gn-T5 BGnT-5;OTTHUMP00000212932;OTTHUMP00000212935;OTTHUMP00000212936;OTTHUMP00000212937;UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5;beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase;beta-1,3-Gn-T5;beta-1,3-N-acetylglucosaminyltransferase 5;beta-1,3-N-acetylglucosaminyltransferase bGnT-5;lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase;lactotriaosylceramide synthase;lc(3)Cer synthase;lc3 synthase APPROVED protein-coding ENSG00000176597 15684 12511 615333 REVIEWED 1603523 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008] 12 12 12 p13.33 2176639 2277425 + 439804 541319 + 569543 671058 + 6480464 18048353;17579116;16728562;15146197;14702039;12966086;22722937;22722940;20360844;20379614 283358 E9PHD9;Q6L9W6;Q8N9V0 AB089940;ABBA01048847;ABBA01048848;ABBA01048849;ABBA01048850;ABBA01048851;ABBA01048852;AC005844;AC006205;AK093503;AK097681;AK131277;AMYH01004166;AMYH01004167;AMYH01004168;CH471116;CN400443;NM_173593 AAI56654;BAC04187;BAC05141;BAD02449;BAD18454;EAW88962;EAW88963;EAW88964;EAW88965;NP_775864;Q6L9W6 Hs.504416 1338499;1689085;1704820;1733624;1759145;1858038;2183630;5015063 D12S352;D12S994;G41229;RH47453;RH93158;SHGC-151131;SHGC-152167;SHGC-79880 FLJ16224;FLJ40362 B4GalNAcT3;Beta4GalNAc-T3;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase;N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2;NGalNAc-T2;OTTHUMP00000159611;beta-1,4-N-acetylgalactosaminyltransferase 3;beta-1,4-N-acetylgalactosaminyltransferase III;beta4GalNAcT3 APPROVED protein-coding 24137 12514 612220 VALIDATED 1603192 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 16 16 16 q22.1 51690248 51693145 - 65739506 65742403 - 67182005 67184902 - 6480464 12975309;12477932;19913121;20628086;17110338;19060904 84752 Q6UX72;Q7Z4F9 ABBA01025431;AC074143;AF171091;AMYH01007745;AY358485;BC012191;BC022849;BU617330;CF994177;CH471092;NM_033309 AAQ13602;AAQ88849;EAW83079;NP_171608;Q6UX72 Hs.744158 1672105;2162615 D16S2584E;RH44529 MGC4655 BGnT-9;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9;beta-1,3-Gn-T9;beta-1,3-N-acetylglucosaminyltransferase 9;beta-1,3-galactosyltransferase-related protein;beta3Gn-T9 protein-coding ENSG00000237172 28714 14651 VALIDATED 731293 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 12 12 q13.3 56305818 56313252 - 58019551 58026985 - 1580863;704404;6480464;6907045 8702839;1601877;19318031;17119850;12477932;11018043;10978536;10477274;8824296;8690719;8120069;19457569;21135695;16344560;21906983 2583 B4DE26;B4DSP5;F8VR44;F8VSE0;F8VU35;F8VW33;F8W1A7;H0YHT1;H0YI57;Q00973;Q59FK0;Q8N636 AB209460;ABBA01026694;ABBA01026695;AC025165;AK127448;AK289690;AK293432;AK299845;AK302503;AMYH01004522;BC029828;CH471054;DA483728;HQ860786;HQ860787;HQ860788;HQ860789;L76079;M83651;NM_001276468;NM_001276469;NM_001478 AAA35516;AAH29828;ADZ15711;AEJ36341;AEJ36342;AEJ36343;AEJ36344;BAD92697;BAF82379;BAG56937;BAG61707;BAH13729;EAW97042;EAW97043;NP_001263397;NP_001263398;NP_001469;Q00973 Hs.159481 2122078;2146340;2151807;2181131 D12S1969;D12S2059;RH1607;WI-15888 GALGT;GALNACT;GalNAc-T;SPG26 (N-acetylneuraminyl)-galactosylglucosylceramide;GD2 synthase, GM2 synthase;GM2/GD2 synthase;GalNAc-T;OTTHUMP00000243172;OTTHUMP00000243173;UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1;UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T);beta-1,4 N-acetylgalactosaminyltransferase 1;beta1,4GalNAc-T;beta1-4GalNAc-T APPROVED protein-coding ENSG00000135454 4117 03525 601873;609195 REVIEWED 1603899 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 17 17 17 q25.3 77497246 77604381 - 78494956 78602975 - 80901667 81009686 - 6480464 15560372;14702039;12477932;9110174;8619474;16169070;21963094;21890473 146712 I3L1A1;I3L232;I3L4B6;Q67FW5 ABBA01019711;ABBA01019712;ABBA01019713;AC130371;AK054757;AK126018;AMYH01008745;AMYH01008746;AY304503;AY634364;BC019623;BC035891;BC041588;BC065543;BC110528;BC110529;CH471099;NM_001009905;U79265 AAH19623;AAI10529;AAI10530;AAQ74775;AAT47555;EAW89825;EAW89827;EAW89830;NP_001009905;Q67FW5 Hs.607824 1649726;1674254;1678599;1710706;1734430;1762063;2152394;2174188 D17S1402E;RH11658;RH15906;RH92242;SHGC-145974;SHGC-32338;SHGC-57794;SHGC-83674 B3GNT8;MGC126253;MGC126256 BGnT-8;BGnT-like protein 1;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8;UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1;beta-1,3-Gn-T8;beta-1,3-N-acetylglucosaminyltransferase 8;beta1,3-N-acetylglucosaminyltransferase-like protein 1;beta3Gn-T-like protein 1;beta3Gn-T8;beta3GnTL1 protein-coding ENSG00000175711 21727 14071;18527 615337 VALIDATED 6481160 B4GALT4-AS1 B4GALT4 antisense RNA 1 100874201 AC083800;AC092981 APPROVED miscrna 40090 1354479 B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] 17 17 q21.32 44565328 44602121 + 47209822 47247351 + 1580863;6480464;7240710 12678917;14688233;16024623;18485915;17965433;15489334;12477932;11886838;8782649;2425965;20379614 124872 Q8NHY0 ABBA01041190;AC069454;AF510036;AJ517770;AJ517771;AK302876;AMYH01008460;BC113675;BC113677;CH471109;NM_001159387;NM_001159388;NM_153446;S83275 AAI13676;AAI13678;AAM34756;AAN86706;ADR83075;ADR83221;BAG64056;CAD57148;CAD57149;EAW94690;EAW94691;NP_001152859;NP_001152860;NP_703147;Q8NHY0 Hs.374679 1700146;1826366 ECD14296;RH103686 B4GALT;GALGT2;MGC142235;MGC142237 OTTHUMP00000220015;OTTHUMP00000220016;OTTHUMP00000220017;UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase;beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT;beta-1,4 N-acetylgalactosaminyltransferase 2;beta-4-N-acetylgalactosaminyltransferase;sd(a) beta-1,4-GalNAc transferase;sda beta-1,4-GalNAc transferase APPROVED protein-coding ENSG00000167080 24136 13558 111730 VALIDATED 1602277 B4GALNT4 beta-1,4-N-acetyl-galactosaminyl transferase 4 11 11 11 p15.5 431440 441661 + 359804 371792 + 369795 382117 + 6480464 18048353;15146197;15044014;14702039;12477932;22722937;22722940 338707 H0YCU7;H0YDW6;Q76KP1 AB089939;ABBA01015176;ABBA01015177;ABBA01015178;AC138230;AK057774;AMYH01003279;AMYH01003280;AMYH01003281;BC035906;BC131528;BF058197;CH471158;CN348077;NM_178537 AAI31529;BAB71566;BAD06471;EAX02321;NP_848632;Q76KP1 Hs.148074 FLJ25045 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1;NGalNAc-T1;OTTHUMP00000147617;beta-1,4-N-acetylgalactosaminyltransferase IV;beta1,4-N-acetylgalactosaminyltransferases IV;beta4GalNAc-T4;beta4GalNAcT4;betaGT4 protein-coding ENSG00000182272 26315 08046 VALIDATED 1313336 B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 1 1 p34-p33 44217453 44229427 + 44444874 44456843 + 1580863;6480464;6907045 9405390;18211920;17470362;16710414;15939404;15504978;15489334;14702039;12477932;11588157;10580128;9597550;2829950;2649653;2542563;2541446;2187500;19524017;12107413;18565761 8704 Q5T4Y5 AB024434;ABBA01050934;ABBA01050935;AF038660;AI702508;AK074533;AK095873;AK293418;AL137647;AL139220;AL357079;AL535811;AMYH01000564;BC002431;BC096821;BQ222671;CD675528;CH471059;DC386748;NM_001005417;NM_003780;NM_030587;Y12510 AAC39733;AAH96821;BAA75819;BAG51967;BAG53152;BAG56925;CAA73112;CAB70857;EAX07062;EAX07063;EAX07064;EAX07065;NP_001005417;NP_003771;NP_085076;O60909 Hs.632403;Hs.736507 1662251;1730267;1761635;2124550;2218288;7184711;7187617 B4GALT2_4418;D1S280E;HSCZOA042;SHGC-145624;SHGC-74711 B4Gal-T2;B4Gal-T3;beta4Gal-T2 OTTHUMP00000010008;OTTHUMP00000010009;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2;beta-1,4-GalTase 2;beta-1,4-galactosyltransferase 2;beta-4-GalT2;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2 APPROVED protein-coding ENSG00000117411 925 04928 604013 REVIEWED 1349315 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008] 9 9 p13 33100642 33157236 - 33110639 33167356 - 1599432;1580863;6480464;6907045;7240710 11901181 33805;2120039;7540104;10900002;6121819;3917437;18029348;19204726;19106107;18929424;17021253;16786197;16675551;16157350;15668241;15611127;15164053;12477932;11947697;11506180;11295846;10580128;9597550;8540625;7744867;7579794;3144273;3098628;3094506;3091013;2124683;1903938;1714903;1384956;2829950;2649653;2542563;2541446;2187500;19261593;20202494;20378551;20379614;20619088;20655926;20851383;20490888;22740701;22982306;22939629;20467438;21963094;22927297;20360068;21139048;22847114;19322201;21750942;20301507;20886274;23263486;23382691;23583406;18215327;18314154;18330979 2683 B4DMM8;Q14523;Q86XA6 A23697;ABBA01065064;ABBA01065065;ABBA01065066;ABBA01065067;ABBA01065068;ABBA01065069;AK296928;AK297541;AK312797;AK316294;AL161445;AMYH01019321;AY864848;BC034244;BC035442;BC045773;BU624063;BX648438;CH471071;D29805;GM603708;M13701;M22921;M70432;NG_008919;NM_001497;U10472;U10473;U10474;X13223;X14085;X55415 AAA35935;AAA35936;AAA35937;AAA68218;AAA68219;AAA68220;AAB00776;AAH45773;BAA06188;BAG35657;BAG59480;BAG59940;BAH14665;CAA01685;CAA31611;CAA32247;CAA39073;CAA39074;CAT03462;EAW58520;EAW58521;NP_001488;P15291 Hs.272011 1335482;1342135;1662093;1663499;1717681;1721659;1759683;1774437;1792430;1792774;2121045;2132862;2218286;5022004 A006S33;B4GALT1_4417;D4Ulb4;D9S1705;D9S1788;D9S1845;G59840;PMC150909P1;PMC16394P1;RH122271;RH16521;RH17851;SHGC-150820;SHGC-31076 B4GAL-T1;CDG2D;DKFZp686N19253;GGTB2;GT1;GTB;MGC50983;beta4Gal-T1 OTTHUMP00000021196;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1;beta-1,4-GalTase 1;beta-1,4-galactosyltransferase 1;glycoprotein-4-beta-galactosyltransferase 2;lactose synthase APPROVED protein-coding ENSG00000086062 924 00659 137060;607091 REVIEWED 1354334 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21-q23 134208254 134214467 - 159407725 159413938 - 161141100 161147758 - 1580863;6480464;6907045 9405390;18029348;17613536;16710414;15489334;14702039;12477932;11588157;10580128;9597550;2829950;2649653;2542563;2541446;2187500;16169070;18565761 8703 A8K5Z0;O60512 AB024435;ABBA01016596;AF038661;AK023311;AK056851;AK092493;AK291455;AL590714;AMYH01001457;BC000276;BC006099;BC009985;CH471121;DC339671;NG_011480;NM_001199873;NM_001199874;NM_003779;Y12509 AAC39734;AAH00276;AAH06099;AAH09985;ABM83420;ABM86632;BAA75820;BAB14520;BAF84144;BAG51816;BAG52558;CAA73111;EAW52628;EAW52629;EAW52630;EAW52631;EAW52632;EAW52633;EAW52634;NP_001186802;NP_001186803;NP_003770;O60512 Hs.321231;Hs.741821 1672738;1725645;1848835;2128992;2146481;2150332 A001T06;G62099;RH11845;RH64523;RH64578;RH71218 beta4Gal-T3 OTTHUMP00000032247;OTTHUMP00000032248;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3;b4Gal-T3;beta-1,4-GalTase 3;beta-1,4-galactosyltransferase 3;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3 APPROVED protein-coding 926 04929 604014 REVIEWED 1602004 B9D1 B9 protein domain 1 This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p11.2 16659306 16678871 - 19187076 19206639 - 19240867 19281495 - 6480464 15231747;19208769;12477932;18337471;21493627;22990118;21890473;21963094;23000965 27077 A8MTX4;A8MYG7;B4DN64;H7C3B7;I3L126;I3L2R1;I3L435;J3KSN2;J3QKN6;J3QKV6;Q9UPM9 AB030506;ABBA01054609;ABBA01054610;ABBA01054611;AC124066;AI300844;AK293815;AK297782;AK309320;AMYH01008233;BC002944;BI833202;CH471212;NG_031885;NM_001243473;NM_001243475;NM_015681 AAH02944;BAA82655;BAG57221;BAG60126;EAW50878;EAW50879;EAW50880;EAW50881;EAW50882;NP_001230402;NP_001230404;NP_056496;Q9UPM9 Hs.462445 2138669 STS-W44801 B9;EPPB9;MKS9;MKSR1 B9 domain-containing protein 1;MKS1-related protein 1;OTTHUMP00000065900;OTTHUMP00000065901;OTTHUMP00000065902;OTTHUMP00000065903;OTTHUMP00000065904;OTTHUMP00000065905;endothelial precursor protein B9 APPROVED protein-coding ENSG00000108641 24123 16866 614144;614209 REVIEWED 1317330 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q13.3 117339081 117368232 - 120413279 120442442 - 118930589 118959752 - 6480464;6907045 9792633;15489334;14702039;12975309;12477932;11588157;11337467;10580128;9597550;2829950;2649653;2542563;2541446;2187500;18763123;18565761 8702 B2RAZ5;B3KM35;C9J3R8;C9J4S5;C9J5S0;C9J644;C9JA31;C9JE00;C9JY35;C9JY38;E7ETS9;O60513 AB024436;ABBA01061587;AC083800;AF020920;AF022367;AF038662;AK001006;AK123182;AK301688;AK314425;AL833580;AMYH01013417;AU099090;AY359008;BC004523;BC062618;BX647468;CH471052;CR749555;FJ525878;NM_003778;NM_212543 AAC39735;AAC72493;AAG50147;AAH04523;AAH62618;AAQ89367;ACN81316;BAA75821;BAG37042;BAG50847;BAG63160;CAH18352;EAW79575;EAW79576;NP_003769;NP_997708;O60513 Hs.13225 1712336;2107875;2163750;2165826 B4GALT4_8849;G54077;RH79045;SHGC-77230 B4Gal-T4;beta4Gal-T4 OTTHUMP00000215049;OTTHUMP00000215050;OTTHUMP00000215054;OTTHUMP00000215078;OTTHUMP00000215079;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4;UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4;beta-1,4-GalTase 4;beta-1,4-galactosyltransferase 4;beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4 APPROVED protein-coding ENSG00000121578 927 04930 604015 REVIEWED 737376 B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008] 18 18 18 q11 26009322 26071820 - 27457131 27518626 - 29202209 29264686 - 1580863;1300048;6480464;6907045 9597550;15489334;12665801;12477932;12180132;10580128;10320813;2829950;2649653;2542563;2541446;2187500;19451621 9331 G3XA83;J3QQY9;Q6NT09;Q9UBX8 AB024742;AB209194;ABBA01022509;ABBA01022510;AC017100;AF038664;AF069054;AF097159;AK314860;AMYH01008924;BC069620;BC069642;BC074835;BC074884;CH471088;NM_004775 AAC21570;AAC39737;AAD41695;AAH69620;AAH69642;AAH74835;AAH74884;BAA76273;BAD92431;BAG37376;EAX01267;EAX01268;EAX01269;NP_004766;Q9UBX8 Hs.591063 1646529;1675656;1685377 RH12056;RH79765;WI-13684 B4Gal-T6;beta4Gal-T6 OTTHUMP00000162821;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6;UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6;beta-1,4-GalTase 6;beta-1,4-galactosyltransferase 6;beta4GalT-VI APPROVED protein-coding ENSG00000118276 929 06808 604017 REVIEWED 1320747 B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008] 20 20 q13.1-q13.2 47682889 47763745 - 48249482 48330421 - 1580863;6480464;6907045 9597550;17690104;17656364;16461357;15489334;15263012;14702039;12477932;12385586;11827452;11780052;10580128;9535717;9435216;20417617;21906983;19322201;22687727;23362303 9334 O43286;Q8WZ36 AB004550;AB067772;ABBA01052750;AF038663;AF289556;AK054803;AK056333;AL035683;AL162615;AMYH01011968;BC074821;BC074873;BC104987;BC112265;BG939833;CH471077;DR000345;NM_004776 AAC39736;AAH74821;AAH74873;AAI04988;AAI12266;AAL55740;ADR82962;BAA25006;BAC07182;EAW75653;EAW75654;NP_004767;O43286 Hs.370487 1655665;1685113;1693378;1771024;1856293;2122545;2160079 AL022254;AL034501;RH34;RH47120;RH66750;Z94405;Z94493 B4Gal-T5;BETA4-GALT-IV;MGC138470;beta4Gal-T5;beta4GalT-V;gt-V OTTHUMP00000031806;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5;UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5;beta-1,4-GalT II;beta-1,4-GalT IV;beta-1,4-GalTase 5;beta-1,4-galactosyltransferase 5;beta-1.4-galactosyltransferase V;beta4-GalT IV APPROVED protein-coding ENSG00000158470 928 06807 604016 VALIDATED 4144528 BAATP1 bile acid CoA: amino acid N-acyltransferase pseudogene 1 9 9 9 q31.1 74609971 74615238 - 103136195 103141450 - 104096374 104101629 - 17116739;18538142;20210993 347275 ABBA01042875;AL359893;AMYH01021578;NG_023464 1339902;1759121 D9S1690;SHGC-152828 ACNATP;FLJ20300 pseudo 34504 INFERRED 2881130 BACE1-AS BACE1 antisense RNA 11 q23.3 117162062 117162859 + 10737800;18587408;21785702;20507594 100379571 ABBA01039729;AMYH01004062;AP000892;BF886632;CB960709;NR_037803 Hs.736305 BACE1-AS1;BACE1AS;FJ573250;NCRNA00177 APPROVED miscrna 37125 614263 VALIDATED 1354325 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009] 5 5 q35.2-q35.3 176959778 176969937 + 177027119 177037348 + 1599433;1580863;6480464;6907045;7240710 10473568 15522873;10506123;16583246;10438455;18158310;15489334;14702039;12975309;12477932;10894925;10580128;3631078;20809901;20843813;20691685 11285 D6RA33;D6RDJ8;D6RJI5;H0Y9D6;Q9UBV7 AB028600;ABBA01033449;AC139795;AF142675;AJ005382;AK022566;AK023506;AK095882;AK123092;AMYH01015877;AY358578;BC007317;BC062983;BC072403;CH471195;CS488894;NG_015977;NM_007255 AAF22225;AAH07317;AAH62983;AAH72403;AAQ88941;ABM83936;ABM87255;BAA83414;BAG51093;BAG51201;BAG53157;CAB56424;CAM55968;EAW84964;EAW84965;NP_009186;Q9UBV7 Hs.455109 2107877;2148552;5016405 B4GALT7_9257;RH78007;SHGC-56917 B4GAL-T7;EDSP1;XGALT-1;XGALT1;XGPT1;beta4Gal-T7 OTTHUMP00000161440;UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7;UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7;beta-1,4-GalTase 7;beta-1,4-galactosyltransferase 7;beta-1,4-galactosyltransferase VII;beta4Gal-T7;beta4GalT-VII;galactosyltransferase I;proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I APPROVED protein-coding ENSG00000027847 930 05060 130070;604327 REVIEWED 1352744 BACE2-IT1 BACE2 intronic transcript 1 (non-protein coding) q22.2 282569 AL773572 C21orf75;NCRNA00228;PRED43 APPROVED miscrna 16024 1603296 B9D2 B9 protein domain 2 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009] 19 19 19 q13.2 38660483 38669951 - 46552166 46561877 - 41860322 41870078 - 6480464 19208769;18936436;17127412;16344560;16341674;12477932;8889548;18287022;19692168;17207965;21054877 80776 M0QY88;Q9BPU9 ABBA01040805;AC011462;AMYH01009819;BC004157;BC004444;BM833644;BU609059;CH471126;DA196504;NG_013091;NM_030578 AAH04157;AAH04444;ADQ32833;EAW57034;NP_085055;Q9BPU9 Hs.567596 ICIS-1;MGC4093;MKS10;MKSR2 B9 domain-containing protein 2;MKS1-related protein 2;involved in cIlia stability-1 APPROVED protein-coding ENSG00000123810 28636 14613 611951;614175 REVIEWED 6481039 BACH1-IT2 BACH1 intronic transcript 2 (non-protein coding) 100874322 AP000240 miscrna 40007 1349420 BACH1-IT3 BACH1 intronic transcript 3 (non-protein coding) q22.11 54147 AA843704;BX100223 Hs.124532 C21orf8;NCRNA00097 APPROVED miscrna 16455 736795 BAALC brain and acute leukemia, cytoplasmic This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008] 8 8 q22.3 104222097 104311709 + 104152921 104242533 + 632264;6480464 11707601 22488406;22529287;18752846;18671757;18378853;17646667;16189514;15749074;15604894;15489334;14702039;12477932;19555438;18029348;19943049;20065290;20306678;20535151;20495894;20841507;21967978;21835957;22197554;22493267;23275563;23287429 79870 Q8WXS3 ABBA01037630;ABBA01037631;AC025370;AF363578;AF371319;AF371323;AK022077;AK093819;AMYH01018944;AP003550;BC011517;BC014365;BC035038;BI548687;CH471060;NM_001024372;NM_024812 AAH11517;AAH35038;AAL50377;AAL50378;AAL50379;AAL50380;AAL50381;AAL50382;AAL50515;AAL50519;ABM84244;ABM87632;BAB13960;EAW91862;EAW91863;EAW91864;EAW91865;NP_001019543;NP_079088;Q8WXS3 Hs.533446 1688243;1699054;1715595;1727095;1740189;1764079;2140984;2165994;2171061 D8S1390E;D8S1692;D8S1977;G62950;RH103102;RH120941;RH98648;SHGC-147735;STS-AA018831 FLJ12015 OTTHUMP00000227493;OTTHUMP00000227494;OTTHUMP00000227495;brain and acute leukemia cytoplasmic protein APPROVED protein-coding ENSG00000164929 14333 09422 606602 REVIEWED 735913 BAAT bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q22.3 103162890 103187108 - 104122699 104147287 - 734629;1580863;69770;6480464;6907045;7240710 12704386;7575455 8034703;2037576;18793185;17495420;17256745;15489334;15164053;12810727;12763038;12477932;12239217;10884298;8954802;10574970;18029348;16712791;20677014;20178365;22783059 570 Q14032 ABBA01042874;AK315347;AL353621;AL359893;AMYH01021579;BC009567;BC039200;BC107424;BG565737;CB154234;CH471105;CR541918;H62757;L34081;NG_009774;NM_001127610;NM_001701 AAC37550;AAH09567;AAI07425;ABM82836;ABM86021;CAG46716;EAW58943;EAW58944;EAW58945;EAW58946;NP_001121082;NP_001692;Q14032 Hs.284712 1672412;1769318;2142406;5106212 D9S1952;RH16182;RH45350;STS-L34081 BACAT;BAT;FLJ20300;MGC104432 OTTHUMP00000021802;bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase);bile acid-CoA:amino acid N-acyltransferase;bile acid-coenzyme a: amino acid n-acyltransferase;long-chain fatty-acyl-CoA hydrolase APPROVED protein-coding ENSG00000136881 932 08376 602938;607748 REVIEWED 1602893 BABAM1 BRISC and BRCA1 A complex member 1 19 19 19 p13.11 17279989 17291905 + 17239232 17251162 + 17378232 17390162 + 6480464 19261748;19261749;19261746;19214193;17353931;16381901;16189514;15489336;12477932;11230166;11076863;11042152;8125298;20852631;19572197;19615732;20852633;21282113;22863883;22990118;22939629;21431873;16196087;23544013;20656689;21987572;22331459;21139048;21890473;21906983;21044950;22792303;21963094;22357538;23000965;23535730;19380743;22505724 29086 J3KQS6;M0QX07;M0QY17;M0QYV1;M0QZ44;M0R0I0;M0R193;M0R2A4;M0R2I2;M0R2K3;M0R3F4;M0R3H9;Q9NWV8 ABBA01051189;ABBA01051190;ABBA01051191;AC010463;AC104522;AF161491;AJ572521;AK000578;AK025970;AK225047;AK301193;AK308590;AL136692;AMYH01009570;BC000788;BC006244;BC091491;CH471106;CR533526;NM_001033549;NM_014173 AAF29106;AAH00788;AAH06244;AAH91491;BAA91268;BAG62773;CAB66627;CAG38557;CAL38513;CAL38600;EAW84584;EAW84585;NP_001028721;NP_054892;Q9NWV8 Hs.190722 1665927;1773023;1847602;2175025 A002Q23;RH11746;SGC31836;WI-11438 C19orf62;FLJ20571;HSPC142;MERIT40;NBA1 BRCA1-A complex subunit MERIT40;BRISC and BRCA1-A complex member 1;hspc142 protein;mediator of RAP80 interactions and targeting subunit of 40 kDa;mediator of Rap80 interactions and targeting 40 kDa;new component of the BRCA1 A complex;new component of the BRCA1-A complex;new component of the BRCAA1 A complex APPROVED protein-coding ENSG00000105393 25008 13702 612766 VALIDATED 1606566 BACE1 beta-site APP-cleaving enzyme 1 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 11 11 q23.2-q23.3 116661624 116692182 - 117156402 117186972 - 6480464;6907045 10531052;10591214;15080893;12354787;10887202;19429494;19344981;19302194;19251705;19196715;19153172;19106624;19074428;19057901;19056495;19011241;18977241;18805488;18798280;18790604;18695061;18660751;18650447;18632981;18587408;18581272;18434550;18393796;18378702;18374657;18307033;18263584;18182766;18182389;18177262;18163181;18039469;17961921;17897958;17854420;17699523;17596706;17576410;17511654;17425515;17409228;17331621;17307738;17293612;17236572;17174011;17113083;16979658;16965550;16908986;16897184;16816111;16757811;16716081;16679558;16611980;16605258;16449801;16354928;16342950;16303743;16279945;16249081;17601350;16246054;16243299;16181410;16033761;16027115;15931081;15886016;15880353;15857888;15824102;15784960;15671026;15628850;15615712;15606899;15592644;15584902;15491607;15489334;15485862;15466887;15452128;15451669;15286784;15247262;15234966;15213451;15211591;15197182;15096037;15059977;15059975;15034149;14991462;14978286;14748707;14748006;14701757;14699153;14681914;14567678;14507929;12928915;12901838;12857759;12824768;12801932;12707937;12665519;12649271;12618121;12586838;12586836;12535780;12514700;12477932;12471021;12445809;12438920;12270690;12223024;12206667;12135764;12112088;12093293;12054559;12054507;11953458;11922623;11860271;11847218;11744168;11741910;11714100;11684351;11516562;11466313;11278841;11266439;11234778;11152683;11032903;11021803;22299711;22306812;22351782;10956649;10801872;10749877;10677483;10656250;10591213;10574461;22491325;20685197;19372755;20354142;20484053;20930286;21245145;20164582;20236612;15749709;16769154;18255190;19405102;19462468;19508864;19682432;19815556;19827607;19889475;19968762;20041192;20066010;20080541;20089133;20127045;20212127;20455082;20468060;23324234;20930275;20849576;20946940;20806954;22728099;20726888;20853423;21695060;21209097;20607864;21500352;23024787;23048024;23109336;21576249;21642424;21712774;20854419;21942621;21585286;21825135;22846573;21726644;22988240;23142975;21707077;21779381;21795680;22045484;22975420;23180460;22122287;22122349;22150401;22275252;22178568;22796214;23504710;21354237;22267734;22223639;21321391;21440067;21565331;22194329;15117318;22052506;22450048;22303960;22879628;22553349;23344193;22709416;22726800;22721728;23202730;22952813;23021373;23036978 23621 B7Z3K2;B7Z3Z4;E9PJG7;H0YDX0;H0YF38;Q5W9H2;Q9UJT5 AB032975;AB050436;AB050437;AB050438;AB089958;AB177847;ABBA01039728;ABBA01039729;AF161367;AF190725;AF200193;AF200343;AF201468;AF204943;AF324837;AF338816;AF338817;AF527782;AK075049;AK296015;AK296535;AL833810;AMYH01004062;AP000892;AY162468;BC036084;BC065492;BM996673;BQ005204;CH471065;CS027018;DC343475;DQ007053;EF444940;NG_029372;NM_001207048;NM_001207049;NM_012104;NM_138971;NM_138972;NM_138973 AAF04142;AAF13715;AAF17079;AAF18982;AAF26367;AAF28927;AAH36084;AAH65492;AAK38374;AAK38375;AAM54050;AAM92013;AAO23912;AAY16982;ABM82435;ABM85626;ACA05927;BAA86463;BAB40931;BAB40932;BAB40933;BAC81826;BAD66825;BAG52056;BAH12238;BAH12380;CAD38674;CAI61888;EAW67308;EAW67309;EAW67310;EAW67311;EAW67312;EAW67313;EAW67314;EAW67315;EAW67316;EAW67317;NP_001193977;NP_001193978;NP_036236;NP_620427;NP_620428;NP_620429;P56817 Hs.504003 1651212;1669421;1671854;1674127;1736166;1736174;1769026;1795412;2115802;2117593;2117595;2118460;2122852;2135576;2164459;2164461;5093878 A005A12;A005U47;A009Y15;BACE_290;D11S2254E;D11S2277E;D11S2294E;D11S2298E;G20259;G20524;G32977;IB1111;RH12629;RH46256;WI-14206;WI-15498;WI-18163 ASP2;BACE;FLJ90568;HSPC104;KIAA1149 APP beta-secretase;OTTHUMP00000218630;OTTHUMP00000218631;OTTHUMP00000218632;OTTHUMP00000218633;OTTHUMP00000218635;OTTHUMP00000218636;OTTHUMP00000235006;OTTHUMP00000235007;asp 2;aspartyl protease 2;beta-secretase 1;beta-secretase 1 precursor variant 1;beta-site APP cleaving enzyme 1;beta-site amyloid beta A4 precursor protein-cleaving enzyme;beta-site amyloid precursor protein cleaving enzyme 1;memapsin-2;membrane-associated aspartic protease 2;transmembrane aspartic proteinase Asp2 APPROVED protein-coding ENSG00000186318 933 07255 604252 REVIEWED 1350115 BACE2 beta-site APP-cleaving enzyme 2 This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 21 21 q22.3 41461598 41570394 + 42539728 42648524 + 1580863;6480464;6907045 12665519;10591213;12801932;10749877;10677483;19240061;19124009;18163181;17307738;17113083;16965550;16816112;16757812;16757811;16305800;16023140;15857888;15489334;15178331;14684825;12975309;12895444;12707937;12611455;12618121;12477932;12423367;12093293;11741910;11423558;11316808;11083922;10965118;10936190;10931940;10838186;10830953;10683441;10605825;8764598;12135764;19840121;20943756;19913121;20628086;19968762;20494980;12054559;14702039;15473697;17511655;21907142;18781797;23324234;21963094;22986058 25825 Q9Y5Z0 ABBA01044663;ABBA01044664;ABBA01044665;ABBA01044666;AF050171;AF117892;AF178532;AF188276;AF188277;AF200192;AF200342;AF204944;AF212252;AK023647;AK075539;AK292056;AL163284;AL163285;AL773572;AL773575;AL773578;AMYH01012262;AMYH01012263;AY358927;AY429520;AY429521;AY769996;BC014453;BC020582;BQ006998;CH471079;NM_012105;NM_138991;NM_138992 AAD45240;AAD45963;AAF13714;AAF17078;AAF26368;AAF29494;AAF35835;AAF35836;AAG41783;AAH14453;AAQ89286;AAX14808;ABM86342;ABW03781;BAC11682;BAF84745;CAB90458;CAB90554;EAX09611;EAX09612;EAX09613;NP_036237;NP_620476;NP_620477;Q9Y5Z0 Hs.43047;Hs.529408 1648860;1648862;1667036;1674840;1678345;1684762;1685816;1690171;1730704;1730869;1730902;1731168;1752761;1775672;1790639;1794002;1795410;1854823;1854825;2122524;2123100;2127787;2132888;2137294;2182568;2182965;2217758;2220504;5022223;5125160 A005R16;BACE2_712;D21S355;D21S398;D21S418E;D21S53;G20436;G35323;PLAC4_3729;PMC310729P6;RH45177;RH69858;RH76632;RH79591;RH98903;SHGC-106623;SHGC-51917;SHGC-52036;SHGC-52055;SHGC-6869;SHGC-87646;SHGC-87652;SHGC-87653;SHGC-87655;STS-AA035768;STS-T66917;STS_CEB270;UniSTS:483705;WI-11358;WI-17388 AEPLC;ALP56;ASP1;ASP21;BAE2;CDA13;CEAP1;DRAP 56 kDa aspartic-like protease;Down syndrome region aspartic protease;OTTHUMP00000109198;OTTHUMP00000109199;OTTHUMP00000109200;asp 1;aspartic-like protease 56 kDa;aspartyl protease 1;beta secretase 2;beta-secretase 2;beta-site APP cleaving enzyme 2;beta-site amyloid beta A4 precursor protein-cleaving enzyme 2;beta-site amyloid precursor protein cleaving enzyme 2;down region aspartic protease;memapsin-1;membrane-associated aspartic protease 1;theta-secretase;transmembrane aspartic proteinase Asp1 APPROVED protein-coding ENSG00000182240 934 05744 605668 REVIEWED 1319503 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 6 6 q15 90692969 91063182 - 90636247 91006627 - 1580863;6480464 19073967;18978792;18929412;18840781;22561518;21145461;18769450;18256039;17991429;17383980;17262715;17044046;17018862;16832351;16344560;15060166;14982850;14574404;12829606;11923289;11746976;10949928;10809773;10669750;8887638;21412927;20647273;12477932;15146197;17046816;19430480;20190752;20203524;20379614;21102463;22194330;19850743;17620599;22589738;21829393;21833088;21841780;22899287;2366175;22858985;23128233;23251661;23273568;23382691;20125193 60468 Q7Z6Q0;Q9BYV9 AA885077;AB208889;ABBA01040546;ABBA01040547;ABBA01040548;AF357835;AJ271878;AK309526;AL117342;AL121787;AL121941;AL158136;AL159164;AL353692;AL512739;AMYH01016506;AMYH01016507;BC070239;CH471051;CN261405;DB077323;DB240991;HI573894;NM_001170794;NM_021813 AAI66613;AAK48898;BAD92126;CAC28130;CBX47436;EAW48530;EAW48531;EAW48532;EAW48533;EAW48534;NP_001164265;NP_068585;Q9BYV9 Hs.269764 1298111;1645990;1646943;1667667;1673765;1699082;1700886;1715697;1719763;1719777;1731403;1739079;1757687;1849489;2126107;2129817;2132948;2178674;2181219;2218290;5093886;7185100 A008R03;A009Y20;BACH2_4426;D6S1351;D6S1506;D6S366;D6S462;G17026;G17078;G32982;RH103117;RH104070;RH119295;RH123573;RH123580;RH16500;RH37451;RH65350;SGC34793;SHGC-146246;SHGC-34604 BTBD25 BTB and CNC homolog 2;OTTHUMP00000016867;OTTHUMP00000016868;transcription regulator protein BACH2 protein-coding ENSG00000112182 14078 12012 605394 VALIDATED 1315457 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009] 21 21 q22.11 29593091 29656088 + 30671220 30734217 + 1580863;6480464;7240710 9479503;9544839;16780588;18029348;19064572;18550526;17881434;17065227;16964243;16771696;16724942;16530877;15734732;15613547;15489334;15465821;15464985;15175654;15068251;15068237;14660636;14504288;12511571;12477932;11069897;10830953;10669750;8889548;8887638;17682061;17525340;19591297;19618874;19822148;19874887;20127796;20159562;16341674;19011633;20345481;20978114;17664283;22698995;22875853;15809329;21555518;16391231;20360068;21812759;19369211;22589738;22289179;21139048;22032289;22158540;22307849 571 C9IYH8;C9IYR0;C9JMP6;F8VZL7;H7C4B6;M0QZP0;O14867;Q6ICU0 AA402241;AB002803;ABBA01057257;AF026199;AF026200;AF124731;AF317902;AF317903;AI336948;AK291021;AK313791;AL163249;AMYH01012188;AP000240;AP001705;BC063307;BM837454;BU933041;CF890820;CH471079;CR450303;DB524401;NG_029658;NM_001186;NM_206866;NR_027655 AAB84100;AAB84101;AAD14689;AAH63307;AAK08197;ABZ91995;BAA24932;BAA95505;BAF83710;BAG36528;CAB90435;CAG29299;EAX09913;EAX09914;NP_001177;NP_996749;O14867 Hs.154276 1733188;2167574;2187420 D21S1421;SHGC-30877;SHGC-87534 BACH-1 BTB and CNC homolog 1;HA2303;OTTHUMP00000096563;OTTHUMP00000096564;basic region leucine zipper transcriptional regulator BACH1;transcription regulator protein BACH1 APPROVED protein-coding ENSG00000156273 935 04127 114480;602751;609054 REVIEWED 735541 BAD BCL2-associated agonist of cell death The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008] 11 11 q13.1 63793878 63808740 - 64037300 64052176 - 1580863;1300048;1579966;2292690;2292693;2292697;2314029;2292699;2292694;2292681;2292675;2292674;2292676;2292677;2292680;2292685;2292700;2292673;2292679;6480464;6484113;6907045 15632274;16103353;15968425;15625305;19641503;15345971;15941375;18078455;16944316;17004114;11781193;15851405;18198484;17870134;15339931;17607361;18347331 15489334;15226424;15033904;14967141;14767529;14702039;12965220;12954615;12931191;12897128;12842996;12754297;12477932;12239175;12115603;12087097;12084714;11994280;11878929;11839683;11717309;11583631;11544290;11494146;11483855;11410287;11278245;11206074;10949026;10880354;10837489;10837486;10811615;10611223;10579309;10558990;10521512;10407019;10381646;9878060;9651683;9463381;9369453;9305851;8929532;8929531;7834748;11739707;16445909;15078178;11689886;15705582;15694340;12137781;11077446;10620799;9824152;9389483;11500364;11742726;15574335;15721256;9130713;9973195;10949025;15231831;9388232;9381178;10195903;12657644;15183529;19587239;19171933;18852119;18832722;18798227;18775810;18651222;18651163;18636124;18593990;18568448;18508827;18508762;18449891;18420586;18402774;18391004;18276761;18246127;18165867;18006502;17927446;17900801;17696989;17696955;17670745;17557568;17544220;17541305;17499381;17446862;17438366;17420275;17404594;17393317;17287851;17110373;17011751;16978419;16949642;16932738;16908594;16847055;16843435;16785131;16767165;16728406;16710454;16603546;16484005;16403219;16297499;16189514;16148027;15901741;15849194;15767261;15751984;15731037;21317286;21419810;22837380;19882362;20339252;18309324;19508210;19895838;18029348;20647330;20855536;20877624;20596645;20691103;20936779;12376548;12787561;15131699;15784622;16413544;16697956;17270021;17274640;17474147;19168699;19593445;19641507;19667065;19679565;19730683;19773546;20043968;20700721;20810912;19913121;20628086;21187157;21302807;21081150;18676776;19624871;18402937;18628207;23135712;23383273;21444773;15280438;15978696;15990872;21076048;21849418;21900206;22172950;11908866;17289999;21674599;22464442;22096607;22214866;22423221;11697890;22011203;22057915;17979178;21918885;21988832;15998799;17457084;18973553;20012528;22805310;18387192 572 A8MXU7;F5GYS3;F5H1R6;F5H3B1;Q92934 AB451254;AB451378;ABBA01003295;ABBA01003296;AF021792;AF031523;AK023420;AK291863;AK303051;AK309150;AMYH01003704;AP001453;AW014069;BC001901;BC095431;BE255791;BG435829;BG748336;BT006678;CH471076;CR541935;CR541959;NM_004322;NM_032989;U66879 AAB36516;AAB72092;AAB88124;AAH01901;AAH95431;AAP35324;ABM86710;ABW03814;BAF84552;BAG64171;BAG70068;BAG70192;CAG46733;CAG46757;EAW74233;EAW74234;EAW74235;EAW74236;NP_004313;NP_116784;Q92934 Hs.370254 1663658;1675935;1682287;1686174;1793554;2112100;2180477;2217054;5037552 BAD_2670;D11S4747;D8S2279;PMC230316P4;RH27709;RH78541;RH80230;RH80521;SHGC-64070 BBC2;BCL2L8 BCL-X/BCL-2 binding protein;BCL2-antagonist of cell death;BCL2-antagonist of cell death protein;BCL2-binding component 6;BCL2-binding protein;OTTHUMP00000165928;OTTHUMP00000165929;bcl-2 associated death agonist;bcl-2-binding component 6;bcl-2-like protein 8;bcl-XL/Bcl-2-associated death promoter;bcl2 antagonist of cell death;bcl2-L-8 APPROVED protein-coding ENSG00000002330 936 04409 603167 REVIEWED 1343744 BAG2 BCL2-associated athanogene 2 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 6 6 6 p12.1-p11.2 58700203 58713112 + 57145293 57157694 + 57037104 57050013 + 1580863;6480464;6907045 17353931;9873016;9873015;16381901;16344560;16207813;16169850;15489336;15489334;15271996;14702039;14574404;11256614;11230166;11076863;21145461;22912744;12477932;16159877;17569659;22863883;20547759;16196087;19156129;18457437;21081666;21987572;21139048;21906983;17203973;22451720;22505724 9532 A2A296;B4DXE2;O95816 ABBA01050484;AF095192;AK001015;AK023735;AK301934;AL031321;AL050287;AL136311;AMYH01016370;BC125039;CA442969;CH471081;CR533496;DA874388;NM_004282 AAD16121;AAI25040;BAG50848;BAG51221;BAG63354;CAB43388;CAG38527;CAL37573;CAL37883;EAX04475;NP_004273;O95816 Hs.55220 1688779;1694200;1775286;2107879 AL035194;BAG2_7951;RH46599;SHGC-34200 BAG-2;KIAA0576;MGC149462;dJ417I1.2 BAG family molecular chaperone regulator 2;BAG-family molecular chaperone regulator-2;OTTHUMP00000016668;bcl-2-associated athanogene 2;dJ417I1.2 (BAG-family molecular chaperone regulator 2) APPROVED protein-coding ENSG00000112208 938 04859 603882 REVIEWED 1350570 BAG4 BCL2-associated athanogene 4 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 8 8 p11.23 38153263 38187694 + 38034106 38070819 + 1580863;2292150;2325852;6480464;6484113 12655295;10799310 9915703;9873016;17366557;17178857;15489334;14559896;12875962;12706861;12477932;12058034;12017295;11527400;10508612;11909948;21145461;19913121;20628086;18029348;20855536;17605853;8889548;19322201;21139048;23190898;23341456 9530 H0YBT1;O95429 ABBA01023544;ABBA01023545;ABBA01023546;ABBA01023547;ABBA01023548;AC084024;AF095194;AF111116;AI640615;AK304072;AK314020;AL049466;AMYH01018653;BC000800;BC038505;BM683128;CH471080;NM_001204878;NM_004874 AAD05226;AAD16123;AAH38505;BAG36731;BAG64979;EAW63330;EAW63331;NP_001191807;NP_004865;O95429 Hs.194726 1645448;1684032;1735832;1795414;1856380;1856671;2160331 BAG4_88;D8S1432E;RH25151;RH78257;SGC34731;SHGC-30117;SHGC-56788 BAG-4;DKFZp586O2022;SODD BAG family molecular chaperone regulator 4;BAG-family molecular chaperone regulator-4;OTTHUMP00000225745;OTTHUMP00000225746;bcl-2-associated athanogene 4;silencer of death domains APPROVED protein-coding ENSG00000156735 940 04861 603884 REVIEWED 1317192 BAG3 BCL2-associated athanogene 3 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008] 10 10 q25.2-q26.2 121400872 121427321 + 121410882 121437331 + 1580863;2325847;2325848;2325843;6480464;7240710 11513873 22734908;22302993;10597216;9873016;19352495;19212330;19111544;19088197;19085932;18821563;18469860;18286539;18094623;18006506;17996194;17974966;17507989;17187345;17164298;17081983;16964243;16859681;16391524;16189514;16094384;15592455;15489334;15302935;12750378;12706811;12700638;12477932;11591653;10980614;8125298;11527400;21459883;21252941;21316839;19913121;20628086;20535599;20936779;20605452;20800573;21451574;21472004;19777443;16385451;19282432;19615732;19845507;19850283;20018251;20232307;20368414;20607728;20800603;20819778;20855536;21233200;21353195;20060297;21423662;20811636;22863883;22939629;23824909;22984599;23434281;20723284;21767525;18457437;21903422;22020323;18029348;19144635;21302292;21561597;21139048;21890473;22072743;17623298;21683594;21971866;22310281;21850027;19229298;21044950;21696420;21898660;20301486;21963094;23000965;23341456;20884878;23667531;23395971;21361913;22944597 9531 C9JFK9;O95817 ABBA01062888;ABBA01062889;AC012468;AF071218;AF095193;AF127139;AK222800;AK291333;AK313026;AL137582;AMYH01003116;AMYH01003117;BC006418;BC014656;BC107786;CH471066;NG_016125;NM_004281 AAD16122;AAF26839;AAF69592;AAH06418;AAH14656;AAI07787;ABM84342;ABM87771;BAD96520;BAF84022;CAB70824;EAW49382;EAW49383;NP_004272;O95817 Hs.523309 1665119;2107881;2148028 BAG3_7950;Bda24g05;D10S2397 BAG-3;BIS;CAIR-1;MFM6;MGC104307 BAG family molecular chaperone regulator 3;BAG-family molecular chaperone regulator-3;BCL2-binding athanogene 3;OTTHUMP00000020599;bcl-2-associated athanogene 3;bcl-2-binding protein Bis;docking protein CAIR-1 APPROVED protein-coding ENSG00000151929 939 04860 603883;612954;613881 REVIEWED 1313091 BAG1 BCL2-associated athanogene The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010] 9 9 p12 33242469 33254761 - 33252469 33264759 - 1580863;2292908;2296021;2293888;2293886;2293889;2293885;6480464;6907045 18430249;12215270;11181661;15297164;10047462;17503439 17662274;17657847;17549665;17278878;16482527;16457154;16381901;16292491;16042572;15986447;15843891;15831476;15707960;15489336;15489334;15309313;15199607;15169918;15075668;14978028;14702039;14680805;14532969;14517289;12874020;12845674;12724406;12477932;12402153;12049201;11994280;11741305;11676916;11340068;11278763;11256614;11231577;11101523;11076863;10967105;10816573;10671488;10477749;10467399;9873016;9679980;9642262;9603979;9582267;9396724;9305631;8812483;8692945;8524784;8125298;7834747;9565586;15603737;11222862;8947043;18029348;19595997;19317853;19293798;19151744;19066611;18822299;18805052;18684711;18523358;18413740;18204076;17954934;17950682;17700523;17693608;22863883;20409521;12853476;19243896;19546472;19778524;19881545;20096920;20156966;20237496;8889548;9747877;15538384;20819778;20855536;20858459;20675402;19913121;20628086;21036726;16398049;22939629;23059827;12297498;21195059;21522149;20404511;11257006;21809033;11520069;21986497;16207813;21157029;21890473;22016818;19800331;23322525;23533635;22179630;12421809;18388150;19229298;22439756;22939115;19060904;21988832;22454210;23000965;23178238;23049684 573 C9J9Y9;C9JYK5;F1LLU6;J3QTA2;Q9Y2V4 ABBA01065064;AF022224;AF116273;AK093238;AK096038;AK222749;AK316577;AL161445;AL356472;AMYH01019322;BC001936;BC014774;BG723775;CH471071;CN478628;NG_029018;NM_001172415;NM_004323;U46917;Z35491 AAC34258;AAD11467;AAD25045;AAH01936;AAH14774;BAD96469;CAA84624;CAL37446;EAW58514;EAW58515;EAW58516;EAW58517;NP_001165886;NP_004314;Q99933 Hs.377484 1735932;1777155;2123336;2137726;2154720;2183285;5015881;5124315 A002S09;D9S1064E;GDB:335751;RH18169;RH47281;RH69938;STS-S83171;STS-Z35491 BAG-1;HAP;RAP46 BAG family molecular chaperone regulator 1;BAG-1;Bcl-2 associating athanogene-1 protein;Bcl-2-binding protein;OTTHUMP00000021198;OTTHUMP00000021199;bcl-2-associated athanogene 1;glucocortoid receptor-associated protein RAP46;receptor-associated protein, 46-KD APPROVED protein-coding ENSG00000107262 937 03292 601497 REVIEWED 1348044 BAGE5 B melanoma antigen family, member 5 cen 12676563;12461691;7895173 85316 Q86Y27 AF339516;NM_182484 AAI56847;AAO32636;NP_872290;Q86Y27 Hs.545789 CT2.5 B melanoma antigen 5;cancer/testis antigen 2.5;cancer/testis antigen family 2, member 5 protein-coding 15732 16537 PROVISIONAL 1342618 BAGE4 B melanoma antigen family, member 4 21 21 p11.1 10042713 10120796 - 10042713 10120796 - 12676563;12461691;7895173 85317 F5GZX1;Q86Y28 ABBA01136834;AF339515;NM_181704 AAI60157;AAO32635;NP_859055;Q86Y28 Hs.545789 1737403;2137693;2149244;2187719;2218734 BAGE__4427;D13S981;D7S3206;G18004;GDB:1318392 CT2.4;MGC119851;MGC119852;MGC119853;MLL3P B melanoma antigen 4;MLL3 pseudogene;cancer/testis antigen 2.4;cancer/testis antigen family 2, member 4 protein-coding 15730 16536 PROVISIONAL 1344125 BAGE B melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008] 21 21 21 p11.1 146528012 146530023 - 10079667 10120808 - 11057796 11059817 - 6480464 18541613;15704127;12676563;12477932;12461691;12115308;7895173;20423514 574 Q13072;Q29RY1 ABBA01003660;AF499647;AF527550;AF527551;AF527552;AF527553;AF527554;BC107038;BC107039;BC113810;NM_001187;U19180 AAC50123;AAI07039;AAI07040;AAI13811;AAO32670;AAO32671;AAO32672;AAO32673;AAO32674;AAP30743;NP_001178;Q13072 Hs.545789;Hs.571595;Hs.624543 2218734;5022578;5022651;5109281;5113787 BAGE__4427;D11S2921;D1S1423;D1S1425;RH79776 BAGE1;CT2.1 B melanoma antigen 1;antigen MZ2-BA;cancer/testis antigen 2.1;cancer/testis antigen family 2, member 1 APPROVED protein-coding 942 05523 605167 REVIEWED 1321985 BAG5 BCL2-associated athanogene 5 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32.33 84077135 84083397 - 103092642 103098904 - 104022881 104029151 - 1580863;6480464 9873016;15603737;15489334;14702039;12477932;10048485;9321400;8125298;7834747;21145461;19913121;20628086;19615732;16344560;20819778;20855536;22863883;21358815;21131737;21139048;20473970;19001729 9529 G3V274;Q9UL15 AA481394;AB020680;ABBA01048422;AF095195;AK001378;AK023145;AK225730;AK225741;AK291312;AL139300;AMYH01006048;BC044216;BC050551;BF941752;BG719955;BI561258;CA424706;CH471061;DB022769;DB457402;NM_001015048;NM_001015049;NM_004873 AAD16124;AAH44216;AAH50551;BAA74896;BAF84001;EAW81826;EAW81827;EAW81828;NP_001015048;NP_001015049;NP_004864;Q9UL15 Hs.5443 1648326;1855116;1856677;2217056;5015961 BAG5_3934;D14S1221;D15S1477;RH48083;RH69364 BAG-5 BAG family molecular chaperone regulator 5;BAG-family molecular chaperone regulator-5;OTTHUMP00000246786;OTTHUMP00000246787;OTTHUMP00000246788;bcl-2-associated athanogene 5 APPROVED protein-coding ENSG00000166170 941 04862 603885 REVIEWED 1313737 BAI1 brain-specific angiogenesis inhibitor 1 Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008] 8 8 q24.3 143542379 143623370 + 143545377 143626368 + 1580863;6480464;6907045 14980512;9647739;9790924;10343108;11245925;7531056;15203201;14702039;12543931;12507886;12074842;11937501;11875720;10748157;9772287;9533023;9393972;19615732;21724586;22330140;23595754 575 E5RG74;O14514 AB005297;ABBA01029407;ABBA01029408;ABBA01029409;ABBA01029410;AC139676;AK123982;AMYH01019085;AMYH01019086;AMYH01019087;AMYH01019088;CH471162;NM_001702 AAI56201;BAA23647;EAW82323;NP_001693;O14514 Hs.194654 2151185 GDB:314333 FLJ41988;GDAIF OTTHUMP00000227339;OTTHUMP00000227746;brain-specific angiogenesis inhibitor 1 APPROVED protein-coding ENSG00000181790 943 04062 602682 REVIEWED 1345980 BAHD1 bromo adjacent homology domain containing 1 15 15 15 q15.1 17499558 17526585 + 38520703 38547733 + 40733411 40760441 + 737633;1580863;6480464 12477932 16189514;12421765;10231032;8889548;19913121;20628086;21252314;19666599;21900206 22893 Q8TBE0 AB023162;ABBA01038449;AC013356;AL833923;AMYH01006561;BC022782;BU740533;CH471125;NM_014952 AAH22782;ADZ15491;BAA76789;CAD38779;EAW92416;EAW92417;EAW92418;NP_055767;Q8TBE0 Hs.22109 1667845;1683120;2107883;2111232 BAHD1_9281;D15S486;RH91414;STS-N50033 KIAA0945 BAH domain-containing protein 1;OTTHUMP00000160443;bromo adjacent homology domain-containing 1 protein protein-coding ENSG00000140320 29153 12518 613880 VALIDATED 1351944 BAGE3 B melanoma antigen family, member 3 21 21 p11.2 11020842 11058323 - 11020842 11058323 - 12676563;12477932;12461691;7895173;16009131;17803354 85318 Q86Y29 AF339514;BC101134;NM_182481 AAI01135;AAO32634;NP_872287;Q86Y29 Hs.545789 2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318392 CT2.3 B melanoma antigen 3;cancer/testis antigen 2.3;cancer/testis antigen family 2, member 3 protein-coding 15728 10685 PROVISIONAL 733092 BAG6 BCL2-associated athanogene 6 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 p21.3 31714784 31728456 - 31606805 31620477 - 1580863;6480464 14667819;15231747;17353931;19115949;19018758;18978787;18852879;18835879;18765639;18757527;18056262;18055229;17672918;17403783;17081983;16964243;16954377;16777091;16713569;16189514;16169070;15489334;15302935;15231748;14960581;14656967;14574404;12477932;11587531;11584289;11230127;10390159;2911734;2813433;2156268;1684176;15451437;20676083;19913121;20587610;20626023;20628086;16344560;20800603;17643375;19242354;19357808;19615732;19654303;19836008;19837266;19851445;19955392;20098615;20106900;20385987;20453000;20516149;20713601;16196087;22863883;23129660;23383273;23077592;23455924;23665563;22174835;22285488;23894747;18781797;19815544;21726808;21900206;21903422;21940994;21987572;19542561;12938929;21139048;21890473;21906983;21636303;22558287;21909115;22779921;22641691;22373577;19738201;21963094;21988832;22053931;23000965;23246001;23349634;17203973;23533635;22863785;22190034;22505724;22797925 7917 B0UX83;F6RG75;F6S6P2;F6TC96;F6U1F2;F6U341;F6UR09;F6VEM6;F6WML8;F6X9W3;F6XTU0;H0Y4L1;H0Y583;H0Y710;H0Y759;H0Y7K4;Q5SQ41 ABBA01038083;ABBA01038084;AF129756;AK302695;AK304879;AL662801;AL662847;AL670886;AL805934;AMYH01016217;AU134255;BA000025;BC003133;BF515863;BU628873;BX384328;BX511262;BX647244;CH471081;CR354443;CR753842;CR753892;CR759761;CX758454;DB454794;DB459208;DB492350;M33519;M33520;M33521;NM_001098534;NM_001199697;NM_001199698;NM_004639;NM_080702;NM_080703 AAA35587;AAA35588;AAD18085;AAH03133;BAB63390;BAG63924;BAG65616;CAI46045;EAX03453;EAX03454;EAX03455;EAX03456;EAX03457;EAX03458;EAX03459;EAX03460;NP_001092004;NP_001186626;NP_001186627;NP_004630;NP_542433;NP_542434;P46379 Hs.440900 1786108;2106193;2106195;2142964;2150577;2189745;5491655;5492039 AA900379;D6S2784;K11;MARC_5411-5412:996690356:1;N3_2_3;RH35871;RH71456;SHGC-172531 BAG-6;BAT3;D6S52E;G3 BAG family molecular chaperone regulator 6;HLA-B associated transcript 3;HLA-B associated transcript-3;HLA-B-associated transcript 3;OTTHUMP00000029237;OTTHUMP00000029238;OTTHUMP00000029239;large proline-rich protein BAG6;large proline-rich protein BAT3;protein G3;protein Scythe;scythe APPROVED protein-coding ENSG00000204463 13919 00808 142590 REVIEWED 1349446 BAGE2 B melanoma antigen family, member 2 21 21 21 p 146484599 146528514 - 11020842 11058323 - 11020842 11098925 - 18074101;16963709;15489334;12909339;12676563;12477932;12461691;17803354 85319 Q86Y30 AF218570;AF254983;AK292540;AMYH01012129;BC101132;BC101133;NM_182482 AAI01133;AAI01134;AAI72334;AAL55648;BAF85229;NP_872288;Q86Y30 Hs.545789 1768780;2149244;2187719;2218734 BAGE__4427;D7S3206;GDB:1318126;GDB:1318392 CT2.2 B melanoma antigen 2;cancer/testis antigen 2.2;cancer/testis antigen family 2, member 2 protein-coding 15723 16535 VALIDATED 1606249 BAHCC1 BAH domain and coiled-coil containing 1 17 17 17 q25.3 76011627 76080540 + 76987561 77047953 + 79373540 79433358 + 6480464 14702039;12477932;10819331;12421765 57597 F8WBW8;I3L2T4;Q9P281 AB040880;ABBA01032144;ABBA01032145;ABBA01032146;ABBA01032147;AC110285;AC139149;AC153475;AC213194;AF086116;AK026711;AK056636;AL713748;AMYH01008711;AMYH01008712;AMYH01008713;AMYH01008714;BC033222;BC050673;CH471099;NM_001080519 AAH33222;BAA95971;BAB15535;EAW89652;NP_001073988;Q9P281 Hs.514580 1672230;1677320;2191437 MARC_21859-21860:1027094458:1;RH48026;RH99048 BAHD2;FLJ23058;KIAA1447 BAH and coiled-coil domain-containing protein 1;BAH domain-containing protein 2;bromo adjacent homology domain-containing protein 2 protein-coding ENSG00000171282 29279 INFERRED 1319770 BAI2 brain-specific angiogenesis inhibitor 2 BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span transmembrane protein and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] 1 1 1 p35 30461955 30498884 - 31965305 32002235 - 32192718 32229648 - 1580863;6480464 14697242;12218411;15203201;16710414;16344560;14702039;12543931;12508107;12477932;10964907;9533023;20367554;16169070;16412436;20677014;21787750 576 A2A3C1;A2A3C2;A2A3C3;A2A3C4;A2A3C6;B4DKC3;E9PND1;O60241 AB005298;AB065648;ABBA01023452;ABBA01023453;AC114488;AK123392;AK294361;AK294999;AK296502;AK307805;AL354919;AMYH01000460;BC009035;BC014780;BC136533;BE379230;CH471059;DA314854;NM_001703 AAH09035;AAI36534;BAA25362;BAC05874;BAG57625;BAG58063;BAG59135;EAX07589;EAX07590;EAX07591;EAX07592;EAX07593;EAX07594;NP_001694;O60241 Hs.524138 1656178;1665645;2117936;2217058 BAI2_3938;G06240;IB428;STS-G06240 Brain-specific angiongenesis inhibitor-2;OTTHUMP00000003957;OTTHUMP00000195038;OTTHUMP00000195040;OTTHUMP00000195041;OTTHUMP00000195042;OTTHUMP00000228424;OTTHUMP00000228425;brain-specific angiogenesis inhibitor 2 APPROVED protein-coding ENSG00000121753 944 04063 602683 REVIEWED 1320187 BAI3 brain-specific angiogenesis inhibitor 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008] 6 6 6 q12 69732521 70486170 + 69402353 70156124 + 69345632 70099403 + 1580863;6480464 15203201;19240061;18628273;15489334;12477932;12168954;9628581;9533023;20379614;20339536;19913121;20628086;20677014;20946148;21262840;21829377;22158540;22219177 577 B7Z1K0;J3KMY8;O60242 AB005299;AB011122;ABBA01008896;ABBA01008897;ABBA01008898;ABBA01008899;ABBA01008900;ABBA01008901;ABBA01008902;ABBA01008903;ABBA01008904;ABBA01008905;ABBA01008906;ABBA01008907;AK289696;AK293560;AK295516;AK316174;AL035469;AL078598;AL133378;AL158051;AL160401;AL356117;AL359714;AL391807;AL589875;AMYH01016410;AMYH01016411;AMYH01016412;BC111720;CH471051;CR740925;DB446627;NM_001704 AAI11721;BAA25363;BAA25476;BAF82385;BAH11536;BAH12092;BAH14545;EAW48836;EAW48837;NP_001695;O60242 Hs.13261 1334986;1337517;1338719;1656493;1685177;1685988;1708134;1715561;1735618;1750071;1851901;1852548;2126342;2161945;2217060;5494100 BAI3_3939;D6S1150E;D6S1225E;D6S1406;D6S1619;D6S1903;D6S467;D6S965;RH120922;RH15836;RH18425;RH25141;SHGC-112231;SHGC-3712;SHGC-81469;fd06g06.y1 KIAA0550;MGC133100 OTTHUMP00000016691;brain-specific angiogenesis inhibitor 3;dJ91B17.1 (brain-specific angiogenesis inhibitor 3) APPROVED protein-coding ENSG00000135298 945 04064 602684 REVIEWED 2303670 BAIAP2-AS1 BAIAP2 antisense RNA 1 (head to head) 17 17 17 q25.3 75630453 75636018 - 76618097 76622255 - 79002933 79008519 - 16303743;14702039;12477932 440465 Q8NBT7 ABBA01032123;AC127496;AK027350;AK056555;AK075238;AK096609;AK124762;AMYH01008703;BC110822;CH471099;CQ783882;NR_026857 BAC11491;CAF86906;EAW89624 Hs.448889 2172023;5020274 A006D02;L18441 FLJ14444;FLJ31993;FLJ39290;FLJ42772;MGC131745 APPROVED miscrna ENSG00000226137 44342 13544 VALIDATED 1352173 BAK1P2 BCL2-antagonist/killer 1 pseudogene 2 11 11 11 q24.3 127584325 127586436 - 129920548 129922859 - 130415438 130417549 - 7715731 601 ABBA01023044;AMYH01004130;AP004371;NG_005599;U16813 BAK3;BAK3P;BCL2L7P2 APPROVED pseudo 997 INFERRED 1343125 BAK1P1 BCL2-antagonist/killer 1 pseudogene 1 20 20 q11.21 30740393 30742517 - 31276732 31278856 - 1580863 7715731;11780052;21048031;21139048 600 Q5HCI0 ABBA01019257;AMYH01011850;BX640505;NG_000850;U16812 AAA74467 1684830 RH64934 BAK2;BCL2L7P1;Bak-2;DKFZp686D0345 APPROVED pseudo 996 INFERRED 1342805 BAIAP2L2 BAI1-associated protein 2-like 2 The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012] 22 22 22 q13.1 22282641 22311373 - 36810842 36836622 - 38480896 38506676 - 6480464 18029348;15489334;12975309;12477932;10591208;22318606 80115 B0QYF0;Q6UXY1;Q9H661 ABBA01055502;ABBA01055503;ABBA01055504;ABBA01055505;AK026235;AK026263;AL022322;AL031587;AMYH01012758;AMYH01012759;AMYH01012760;AW007403;AY358164;CH471095;NG_033059;NM_025045 AAQ88531;ADZ16019;BAB15405;EAW60216;EAW60217;NP_079321;Q6UXY1 Hs.474822 1657752;1682001;1690886;1754415;1796518;2148214;5019571 AU047468;PLA2G6_1043;RH66642;RH93923;RH99077;SHGC-132435;SHGC-31786 FLJ22582 BAI1-associated protein 2-like protein 2;OTTHUMP00000199353;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2;pinkbar;planar intestinal- and kidney-specific BAR domain protein protein-coding ENSG00000128298 26203 07997 REVIEWED 6483484 BANCR BRAF-activated non-protein coding RNA 9 71911597 71921972 - 22673151;22581800 100885775 AA442062;AA442164;AA992895;ABBA01033807;AI394221;AI472919;AL355140;AMYH01021384;BG193679;N98863;NR_047671;W58600 Hs.49768 LINC00586 miscrna 43877 VALIDATED 1318052 BAIAP3 BAI1-associated protein 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 16 16 16 p13.3 1598966 1613557 + 1324664 1339443 + 1383606 1399442 + 6480464 9790924;16381901;15616553;15489336;15489334;12477932;12168954;11230166;11157797;11076863;9872452;9110174;8619474;12498718 8938 A2A2B2;H3BPP9;H3BV46;H3BVI3 AB018277;ABBA01030310;ABBA01030311;AE006467;AF038191;AK294491;AK294576;AK294744;AK295645;AK299309;AK299358;AK315059;AL031709;AL834321;AMYH01007031;AMYH01007032;BC104966;BC112129;BF448577;CH471112;DC318470;NM_001199096;NM_001199097;NM_001199098;NM_001199099;NM_003933 AAI04967;AAI12130;AAK61275;BAA34454;BAG37534;BAG57713;BAG57768;BAG57886;BAG58515;BAG61321;BAG61353;CAH56376;CAL38712;EAW85670;EAW85671;EAW85672;NP_001186025;NP_001186026;NP_001186027;NP_001186028;NP_003924;O94812 Hs.458427 1656992 RH70716 BAP3;KIAA0734;MGC138334 BAI-associated protein 3;BAI1-associated protein 3;OTTHUMP00000045501;OTTHUMP00000158651 APPROVED protein-coding ENSG00000007516 948 04925 604009 REVIEWED 1350560 BANF1P1 barrier to autointegration factor 1 pseudogene 1 14 14 q24.1 49464173 49464870 + 69403264 69403961 + 9740667 317687 ABBA01023683;AL117694;AMYH01005821;NG_002455;NG_029480 BCRG1;BCRP1;D14S1460;D14S1460E pseudo 20252 INFERRED 6482636 BANF1P3 barrier to autointegration factor 1 pseudogene 3 2 231589467 231590194 - 100505506 ABBA01050113;AC084031;AMYH01011552;NG_029257 1645935;1678945 G06903;RH69702 pseudo 43883 INFERRED 1348743 BANF1P2 barrier to autointegration factor 1 pseudogene 2 10 q26.3 135157764 135158505 - 414169 ABBA01006213;AL360181;AMYH01003237;NG_029687 BANF1L1;bA122K13.8 APPROVED pseudo 23426 INFERRED 732926 BAIAP2 BAI1-associated protein 2 The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 17 17 q25 76623557 76705827 + 79008947 79091232 + 1580863;6480464;6484113 10343108;19286134;19193906;19054385;18417251;17371834;17115031;17003044;16713569;16702231;16189514;15673667;15635447;15592455;15489334;15324660;15289329;14752106;14702039;14667819;14596909;12884081;12598619;12504591;12477932;12054568;11696321;11157984;11130076;10814512;10460236;10332026;8125298;16169070;17353931;21542353;18029348;18215522;19171758;19460367;19733838;19762983;19933840;20360004;20678498;20936779;20418908;16712791;20621182;20888579;19366662;21832049;21814501;21893288;17361185;19953087;21139048;21555454;21906983;22179776;17979178;21988832;22767515;23000965;20585556 10458 B4DWA1;F8W878;I3L0M4;I3L0Y9;I3L113;I3L125;I3L1C8;I3L2J6;I3L2M4;I3L327;I3L3C5;I3L3C6;I3L3J7;I3L4A3;I3L4C2;I3L526;Q9UQB8 AB015019;AB015020;AB017119;AB017120;AB104726;ABBA01032123;AC115099;AC127496;AK023688;AK056888;AK222670;AK225612;AK297644;AK298629;AK301436;AMYH01008704;AMYH01008705;AMYH01008706;BC002495;BC014020;BC032559;CB153324;CH471099;NG_029486;NM_001144888;NM_006340;NM_017450;NM_017451;U70669 AAB93497;AAH14020;AAH32559;ABM84382;ABM87328;BAA36586;BAA36587;BAA74773;BAA74774;BAC57945;BAC57946;BAC57947;BAC57948;BAD96390;BAG51821;BAG60012;BAG60805;BAG62963;EAW89625;EAW89626;EAW89627;EAW89628;NP_001138360;NP_006331;NP_059344;NP_059345;Q9UQB8 Hs.128316 1656532;1680523;1697596;1758653;1783506 RH102309;RH15981;RH36794;SHGC-147371;SHGC-149058 BAP2;FLAF3;IRSP53 BAI-associated protein 2;IRS-58;IRSp53/58;brain-specific angiogenesis inhibitor 1-associated protein 2;fas ligand-associated factor 3;insulin receptor substrate p53;insulin receptor substrate p53/p58;insulin receptor substrate protein of 53 kDa APPROVED protein-coding ENSG00000175866 947 05686 605475 REVIEWED 6482638 BANF1P5 barrier to autointegration factor 1 pseudogene 5 7 q22.3 107282833 107283504 + 101290503 AC078937;NG_033173 pseudo 43885 INFERRED 6483733 BANF1P4 barrier to autointegration factor 1 pseudogene 4 1 174725608 174726350 - 100653423 ABBA01027877;AL161671;AMYH01001512;NG_029684 pseudo 43884 INFERRED 1352215 BAIAP2L1 BAI1-associated protein 2-like 1 This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009] 7 7 7 q22.1 92614864 92724061 - 97760491 97868316 - 97920962 98030427 - 6480464 22829776;19366662;17430976;17081983;16344560;15489334;15324660;14752106;12853948;12690205;12477932;10931946;9847074;8889548;17568789;18215522;19807924;18029348;20562859;21139048;21555454;21906983;21098279;23383273;20811636;21840312;21887275;22219177;22745667;23175443;21963094;23251661 55971 Q9UHR4 AACC02000085;ABBA01045726;ABBA01045727;ABBA01045728;ABBA01045729;ABBA01045730;ABBA01045731;AC004841;AC093169;AC093799;AF119666;AK027109;AK027142;AK074419;AK124269;AK309936;AMYH01017714;AMYH01017715;AMYH01017716;BC013888;BI560834;BM977002;CH236956;CH471091;DA442866;NG_013090;NM_018842 AAD20937;AAF17223;AAH13888;AAS07549;AAS07550;ACE87078;ACE87758;BAB15671;EAL23890;EAW76706;EAW76707;NP_061330;Q9UHR4 Hs.656063 1648473;1657652;1675120;1679936;1683687;1689771;1703246;2154605 D7S2754;G09735;GDB:1317708;RH12625;RH79669;RH92769;RH98644;SGC31939 FLJ42275;IRTKS BAI1-associated protein 2-like protein 1;OTTHUMP00000205450;brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1;insulin receptor tyrosine kinase substrate APPROVED protein-coding ENSG00000006453 21649 11270 611877 REVIEWED 1346993 BAMBI BMP and activin membrane-bound inhibitor This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008] 10 10 p12.3-p11.2 29006430 29011874 + 28966424 28971868 + 737633;1580863;6480464;6484113 12477932 10942595;8621228;19328798;19326429;18838381;18756595;16189514;15489334;15340161;15240101;15164054;14660579;12107411;8125298;22406377;20513241;20634891;19758997;19998449;20189233;20886049;21496456;21900206;22187378;21890473;21963094 25805 Q13145 ABBA01034373;AI680996;AJ277487;AK223065;AK290639;AL161936;AMYH01002212;BC019252;BQ640107;BT006820;CH471072;NM_012342;U23070;U29189 AAC50435;AAH19252;AAP35466;AAR02414;BAD96785;BAF83328;CAB89152;EAW86030;EAW86031;NP_036474;Q13145 Hs.533336 1854544;2110521;2110523;2148335;2219028;5013966 BAMBI__4431;MARC_37841-37849:1070304063:1;MARC_37843-37842:1071256456:1;MARC_37843-37844:1076342064:3;WI-16558;WIAF-1707 NMA BMP and activin membrane-bound inhibitor homolog;OTTHUMP00000019384;non-metastatic gene A protein;putative transmembrane protein NMA APPROVED protein-coding ENSG00000095739 30251 05117 604444 REVIEWED 1353034 BAK1 BCL2-antagonist/killer 1 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008] 6 6 p21.3 33648301 33656048 - 33540323 33548070 - 1580863;2313963;2315700;2315701;2313975;2315703;1643479;2315709;2316133;6480464;6907045 18817839;19222350;12771926;17322918;9894249;16962107;11232245;18993028 15901672;10837489;9843949;10381623;9111042;10950869;12721291;19463775;19282307;19255499;19135534;19074885;19056676;19041633;18927073;18715924;18676680;18665919;18636124;18593893;18524770;18472157;18471982;18413764;18362892;18349538;18299329;18251703;18178565;18056640;17991745;17927446;17880809;17879944;17724463;17699158;17698840;17686864;17513609;17235284;17227835;17188240;17074758;17015472;16988840;16978419;16874066;16847458;16794010;16645094;16529740;16439990;16436379;16410245;16376985;16341674;16172118;15846589;15757910;15638362;15638360;15489334;15478112;15467752;15351796;15322047;15248898;15194786;15159409;15124764;15077116;15003505;14702039;14647456;14596824;14574404;12881569;12847083;12808108;12624178;12624108;12477932;12454021;12297281;12176904;12070120;11964315;11940658;11932420;11929871;11908704;11867266;11795669;11728179;11571294;11326099;11175750;10639121;10579309;10381646;10365962;10085290;9878060;9573342;9463381;9020082;8521816;7715731;7715730;7715729;14980220;17353931;15637055;16189514;12137781;15846303;22504646;22700719;16712791;19343496;20428767;20629644;21041309;11206074;15292519;19060904;19168699;19170196;19351886;19381065;19481066;19483681;19514060;19587033;19625176;19692168;19820697;19875445;19898928;19955184;20308427;20453000;20836993;20959805;21036904;19913121;20628086;20561923;20460378;20855536;20877624;20503275;21159883;21196599;21656147;20034877;21158936;21148306;19593445;22939629;21658363;21613222;18387192;22686245;21617256;21233848;21727192;22257632;21726118;22526391;17289999;20930068;21852253;22297299;22354970;22065578;23189150;23283967;23389372;23404709;23140172;21900206;22024133;22253918;22423221;22188816;20978950;22056880;22072546;22515821;22719244;21712378;22440942;19148187;22493436;23229512;23604079;21988832;23192964;8887627;23251661;23263863;23480852;22139419;22378505;22479585;23303126 578 C0H5Y7;Q16611 ABBA01038158;AF520590;AK091807;AK292093;AK293547;AK303422;AMYH01016247;AY260471;BC004431;BC032789;BC110337;BM855203;CB142221;CH471081;CR457419;CR627020;D88397;NM_001188;U16811;U23765;X84213;Z93017 AAA74466;AAA93066;AAH04431;AAI10338;AAM74949;AAO74828;ABM83453;ABM86665;BAA13606;BAF84782;BAG52419;BAG57025;BAG64474;CAA58997;CAG33700;CAI46254;EAX03740;EAX03741;EAX03742;NP_001179;Q16611 Hs.485139 1684830;5111522 D11S4366;RH64934 BAK;BAK-LIKE;BCL2L7;CDN1;MGC117255;MGC3887 BCL2-like 7 protein;OTTHUMP00000016211;apoptosis regulator BAK;bcl-2 homologous antagonist/killer;bcl-2-like protein 7;bcl2-L-7;pro-apoptotic protein BAK APPROVED protein-coding ENSG00000030110 949 02744 600516 REVIEWED 1342836 BANF1 barrier to autointegration factor 1 The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009] 11 11 q13.1 65526126 65528193 + 65769550 65771617 + 632371;1580863;6480464 9465049 21549337;14645565;14523012;12663813;12493765;12477932;12163470;11792822;11792821;11005805;10924106;10908652;10651245;10393804;9783751;9740667;9521877;7937898;16738646;16680152;16403635;16075307;15875659;12091904;16291214;12228227;15479846;18628300;18005698;17519288;16371512;16337940;16204256;16203725;16155580;15681850;15635413;15546916;15489334;15130582;15109603;17620012;20581439;21447625;12215455;19759913;16622419;21674799;22939629;22935701;21139048;21890473;21906983;22127260;23000965;21628590;21750191;21880762;21932319;21966431;17304248;19750561 8815 E9PJJ8;O75531 ABBA01024094;AF044773;AF068235;AF070447;AK311961;AMYH01003727;AP006287;BC005942;BC008705;BC107702;BG748852;BU940708;CH471076;CR542140;NG_031874;NM_001143985;NM_003860 AAC08964;AAC23575;AAD15901;AAH05942;AAI07703;BAG34901;CAG46937;EAW74483;EAW74484;EAW74485;EAW74486;NP_001137457;NP_003851;O75531 Hs.433759 1645935;1678945 G06903;RH69702 BAF;BCRP1;D14S1460;MGC111161;NGPS OTTHUMP00000234145;OTTHUMP00000234146;barrier-to-autointegration factor;breakpoint cluster region protein 1 APPROVED protein-coding ENSG00000175334 17397 04817 603811;614008 REVIEWED 1317375 BANF2 barrier to autointegration factor 2 20 20 20 p12.1 17748830 17791025 + 17628593 17664517 + 17674320 17716517 + 6480464 16337940;15489334;12477932;11780052;7829101;20379614;18029348 140836 B1AM15;Q9H503 AA394107;ABBA01054027;ABBA01054028;AL132765;AL160071;AMYH01011738;AW022487;BC054871;BC062735;CH471133;NM_001014977;NM_001159495;NM_178477 AAH54871;AAH62735;EAX10271;EAX10272;NP_001014977;NP_001152967;NP_848572;Q9H503 Hs.115366 1687694 RH93138 BAF-L;BAF2;BAFL;C20orf179;MGC62093;MGC72082 OTTHUMP00000040745;OTTHUMP00000040746;OTTHUMP00000162797;barrier-to-autointegration factor 2;barrier-to-autointegration factor-like protein protein-coding ENSG00000125888 16172 12759 VALIDATED 1316673 BANP BTG3 associated nuclear protein This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 16 16 q24 86542539 86668425 + 87985038 88110924 + 6480464 19303885;18981184;16344560;16189514;16166625;15701641;15623522;15371550;15146197;14702039;12494467;12477932;10950932;10940556;8889549;20719862;17668048;18822384;19448619;19799771;20075864;20153327;20379614;20097305;20562859;22074660;20709157;21044950;22013068;21988832;23291589;20153010;22674979 54971 B3KM38;B4DE54;C9J811;C9JF73;C9JGM9;C9JLS0;C9JLT2;C9JTM8;C9JYB6;E9PIP2;E9PJI6;Q8N9N5;Q9NSS6 ABBA01006925;ABBA01006926;ABBA01006927;ABBA01006928;ABBA01006929;AC127455;AC134312;AK001039;AK094158;AK125232;AK293472;AK297945;AK315089;AK315535;AL157429;AMYH01007904;AMYH01007905;BC009424;BC018247;CH471114;CN289917;DA632793;NG_029918;NM_001173539;NM_001173540;NM_001173541;NM_001173542;NM_001173543;NM_017869;NM_079837;T49823 AAH09424;ABM84102;ABM87474;BAC04296;BAG37554;BAG50850;BAG54171;BAG56965;BAG60261;CAB75653;EAW95364;EAW95365;EAW95366;EAW95367;EAW95368;EAW95369;EAW95370;NP_001167010;NP_001167011;NP_001167012;NP_001167013;NP_001167014;NP_060339;NP_524576;Q8N9N5 Hs.461705 1738567;1764575;1766431;1780036;1780064;2131708;5122220 D16S2733;SHGC-148167;SHGC-149765;SHGC-154291;SHGC-154313;SHGC-33012;STS-T49824 BEND1;DKFZp761H172;FLJ10177;FLJ20538;SMAR1;SMARBP1 BEN domain containing 1;BEN domain-containing protein 1;OTTHUMP00000175041;OTTHUMP00000175042;OTTHUMP00000175043;OTTHUMP00000233938;btg3-associated nuclear protein;protein BANP;scaffold/matrix-associated region-1-binding protein APPROVED protein-coding ENSG00000172530 13450 16538 611564 REVIEWED 1342509 BANK1 B-cell scaffold protein with ankyrin repeats 1 The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q24 102930787 103214992 + 102711764 102995969 + 6480464;7240710 19339986;19180476;19110536;18204447;16344560;15489334;14702039;12477932;11782428;19357697;11329013;19644876;19815934;19877059;20131273;20379614;20472928;20848568;20881011;20962850;21068098;21078628;21208380;21480188;20618440;21989138;22003931;21978998;21900951;22763476;23065315;23128233;23273568;23453885 55024 Q8NDB2 AA768944;AB063170;ABBA01063693;ABBA01063694;ABBA01063695;ABBA01063696;AC093694;AC095062;AC109928;AI864790;AK000713;AK091523;AK093024;AK292133;AK301936;AL834291;AMYH01014428;AMYH01014429;AMYH01014430;AP002075;AW574859;BC032241;BE748761;BG200452;CH471057;DA109829;DA946668;EU051376;NG_015824;NM_001083907;NM_001127507;NM_017935 AAH32241;ABM81992;ABM85173;ABW74340;BAA91337;BAB79255;BAC03685;BAF84822;BAG63356;CAD38965;EAX06127;EAX06128;NP_001077376;NP_001120979;NP_060405;Q8NDB2 Hs.480400 1335077;1652395;1653556;1690742;1718763;1752553;1753793;1773838;2135592;2149478;2157165;2168424;2186415;2218294 BANK1_4432;D4S1235;D4S290;D4S2961;D4S3204;G01532;G01787;GDB:372311;RH123071;RH92147;SHGC-106471;SHGC-108016;SHGC-50588;SHGC-51455 BANK;FLJ20706;FLJ34204 B-cell scaffold protein with ankyrin repeats;OTTHUMP00000219423;OTTHUMP00000219424;OTTHUMP00000219425;OTTHUMP00000219426 APPROVED protein-coding ENSG00000153064 18233 09819 152700;610292 REVIEWED 1323652 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013] 3 3 p21.31-p21.2 52410064 52419049 - 52435024 52444009 - 1580863;6480464 22367297;23333114;9528852;19367581;19197335;19117993;18950845;18757409;15489334;15302935;14702039;12800201;12477932;12168954;10546591;9039502;8125298;20436459;19188440;19615732;19815555;19950226;18029348;20805357;21051595;23032617;23277170;21484256;21642991;21874000;21874003;15717329;20360068;10667217;16344560;20302916;22042019;22268848;22834783;23147254;22683710;21941004;22118674;21139048;21890473;22897849;22935333;22545102;21926972;22321046;22878500;22958294;22626734;22863556;2532544;23026932 8314 C9J7L9;F8W6N3;F8WEY5;H0Y8E8;H7C4V7;Q92560 AB002534;ABBA01024509;AC092045;AF045581;AJ011861;AK092725;AK094499;AK225494;AK292608;AK295395;AK307274;AMYH01013183;AY130008;BC001596;BX647318;CH471055;D87462;D88812;DA188433;NG_031859;NM_004656 AAC15970;AAH01596;AAN05092;ABM83471;ABM86682;BAA13401;BAB46921;BAB46926;BAF85297;BAG52602;BAG58349;EAW65220;EAW65221;NP_004647;Q92560 Hs.106674 1768736;1788698;2106959;2159579;2175969;5014055 BAP1_7253;D1S3697;D3S3829;D3S3975;RH135811;SHGC-76996 DKFZp686N04275;FLJ35406;FLJ37180;HUCEP-13;KIAA0272;TPDS;UCHL2;hucep-6 BRCA1-associated protein 1;OTTHUMP00000212891;OTTHUMP00000212984;cerebral protein 6;cerebral protein-13;cerebral protein-6;ubiquitin carboxy-terminal hydrolase;ubiquitin carboxyl-terminal hydrolase BAP1 APPROVED protein-coding ENSG00000163930 950 04366 603089;614327 REVIEWED 4889636 BASP1P1 brain abundant, membrane attached signal protein 1 pseudogene 1 13 13 13 q12.12 4533499 4534650 - 22369480 22370661 - 23471169 23472320 - 19376485 646201 ABBA01068628;AI624948;AL157931;AMYH01004966;NR_033774 Hs.729338 pseudo 39418 PROVISIONAL 736238 BARD1 BRCA1 associated RING domain 1 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. [provided by RefSeq, Jul 2008] 2 2 q34-q35 215301507 215382673 - 215593262 215674428 - 734631;1580863;2293149;2315713;2315714;2315716;2315717;2315727;2315729;2315732;2315715;632230;6480464;7240710 8944023;18443292;17028982;17333333;16768547;16333312;16152612;14550946;16685375;17972171;11156388 12419249;15782130;10026184;10477523;15184379;15265711;15905410;15632137;17525342;19261748;19261749;14976165;19197335;19176389;19164445;19124506;19117993;19064572;19064565;18950845;18842000;18676680;18481171;18480049;18243530;18089818;17678435;17556008;17550235;17497650;17399677;17275994;17185394;16825437;16672066;16344560;16061562;15886201;15855157;15815621;15665273;15489334;15383276;15342711;15218362;15159397;14647430;14638690;14560035;12890688;12781370;12732733;12611903;12485996;12477932;12438698;12431996;12183411;12154023;11943588;11927591;11925436;11807980;11779501;11777930;11773071;11573085;11498787;11257228;10764811;10362352;9798686;9425226;9342365;8889548;8125298;14636569;12951069;12700228;11526114;11504724;11301010;11278247;10635334;9788437;9738006;11799067;18936166;21124317;21087664;17525341;19170196;19412175;19482343;19536092;19584272;19615732;19625176;19692168;19789190;19796682;19887602;19959210;20060929;20077502;20215511;20379614;20453000;16489000;19690564;20842729;19714462;23086937;21103343;17664283;15569676;19766185;21809034;17218787;21393566;21335604;12549820;18493658;19916563;21742769;19369211;21815143;16391231;17283126;20351172;21693656;21890473;21901007;21950761;21965653;22350409;20301425;16403807;19322201;20451671;20681793;21344236;22328350;22652532;22990118;22941191;23222812;22544576;22883453;20379136;23056176 580 A0AVN2;C9IYG1;C9J6M1;E7EUI3;F8WCG2;Q99728 ABBA01062783;AC016708;AF038034;AF038035;AF038036;AF038037;AF038038;AF038039;AF038040;AF038041;AF038042;AK223409;AK301843;AK310759;AK314260;AMYH01011482;AMYH01011483;AX794378;BC126426;BC126428;BU677525;BX098964;CH471063;DB088853;JF790280;JF790281;JF790282;JF790283;JF790284;JF790285;JF790286;JF790287;NG_012047;NM_000465;U76638 AAB38316;AAB99978;AAI26427;AAI26429;AAX93130;AEF57471;AEF57472;AEF57473;AEF57474;AEF57475;AEF57476;AEF57477;AEF57478;BAD97129;BAG36925;BAG63286;CAE48237;EAW70519;NP_000456;Q99728 Hs.591642 1753921;1771331;2151634;2218298 BARD1_4434;RH66789;SHGC-108134;SHGC-56861 BARD-1;BRCA1 associated RING domain 1 isoform alfa;BRCA1 associated RING domain 1 isoform beta;BRCA1 associated RING domain 1 isoform delta;BRCA1 associated RING domain 1 isoform epsilon;BRCA1 associated RING domain 1 isoform eta;BRCA1 associated RING domain 1 isoform gamma;BRCA1 associated RING domain 1 isoform phi;BRCA1-associated RING domain gene 1;OTTHUMP00000163973 APPROVED protein-coding 952 03354 114480;601593 REVIEWED 733588 BARHL1 BarH-like homeobox 1 9 9 9 q34 105999743 106007390 + 134447814 134455461 + 135457993 135465640 + 1580863;6480464 17353931;18029348;14702039;10814725;12477932;20211142;21602885 56751 Q9BZE3 ABBA01032484;AF321618;AF325688;AJ237816;AK054797;AL354735;AMYH01021792;BC136956;BC136969;BC144433;CH471090;NM_020064 AAG50279;AAI36957;AAI36970;AAI44434;AAK52674;BAB70807;CAB92439;EAW88005;NP_064448;Q9BZE3 Hs.283809 OTTHUMP00000022433;barH-like 1 homeobox protein protein-coding ENSG00000125492 953 05554 605211 VALIDATED 1344726 BARHL2 BarH-like homeobox 2 1 1 1 p22.2 89425682 89430897 - 90950167 90955382 - 91177579 91182794 - 1580863;6480464 15489334;12477932;10814725 343472 Q9NY43 ABBA01045575;AC092805;AJ251753;AMYH01000780;AY338397;BC126439;BC126441;CH471097;NM_020063 AAI26440;AAI26442;AAQ01189;CAB92440;EAW73123;NP_064447;Q9NY43 Hs.451956 1692958;2218300;5017929 AL034195;BARHL2_4436;Barhl2 OTTHUMP00000011704;barH-like 2 homeobox protein protein-coding 954 05555 605212 VALIDATED 1350102 BARX2 BARX homeobox 2 This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008] 11 11 11 q25 126414612 126490903 + 128751091 128827384 + 129245881 129322174 + 1580863;6480464 14744868;14702039;12477932;11278942;10854790;10644443;9122247;20634891;22238593;22383897;21890473 8538 G3V222;G3V397;Q9UMQ3 ABBA01023020;AF031924;AF171222;AJ243512;AK022187;AMYH01004124;AP003775;BC069378;BC111432;BC111572;CH471065;NM_003658 AAC04705;AAF09453;AAH69378;AAI11433;AAI11573;CAB50736;EAW67743;NP_003649;Q9UMQ3 Hs.591944 1760115;2218302 BARX2_2111;SHGC-108027 MGC133368;MGC133369 BarH-like homeobox 2;OTTHUMP00000230949;OTTHUMP00000244646;homeobox protein BarH-like 2 APPROVED protein-coding ENSG00000043039 956 16074 604823 REVIEWED 1322041 BARX1 BARX homeobox 1 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008] 9 9 9 q12 67155476 67159081 - 95753730 95757429 - 96713909 96717608 - 1580863;6480464 10995576;18978678;17486624;12477932;18708738;20634891;23314748;21900206 56033 Q9HBU1 ABBA01017680;ABBA01017681;AF213356;AL357073;AMYH01021518;AMYH01021519;BC009458;BC064363;CH471089;NM_021570 AAG23738;AAH09458;AAH64363;ADZ15659;EAW62873;NP_067545;Q9HBU1 Hs.164960 1797312 BARX1_2258 BarH-like homeobox 1;OTTHUMP00000021686;OTTHUMP00000197307;homeobox protein BarH-like 1 APPROVED protein-coding ENSG00000131668 955 16017 603260 REVIEWED 1347703 BASP1 brain abundant, membrane attached signal protein 1 This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012] 5 5 5 p15.1 17243172 17302814 + 17270750 17329943 + 17217750 17276943 + 1580863;6480464 9749536;19376485;18949357;18268500;17081983;15489334;14701728;12477932;10965107;9310187;19050011;19956849;18850735;21269271;22939983;17500595;22863883;22939629;19013454;21139048;18781797;21987572;19322201;15146197;16344560;8889548;21963094;22304920;22810585;23092984;23275563;23398456 10409 P80723 ABBA01020692;AC026785;AC091878;AF039656;AK295995;AK314152;AMYH01014934;BC000518;BG704783;BM888431;BM973114;BT019340;BT019341;BU181147;CH471102;CN355202;CS300636;DA489123;DW458407;HY258599;NM_001271606;NM_006317 AAC67374;AAH00518;AAV38147;AAV38148;ABM85492;ABW03753;BAG58770;CAK32300;EAX08012;EAX08013;NP_001258535;NP_006308;P80723 Hs.201641;Hs.646924 1683245;1700120;1751793;1751847;1779149 G35277;RH103673;RH80044;SHGC-105828;SHGC-105831 CAP-23;CAP23;MGC8555;NAP-22;NAP22 22 kDa neuronal tissue-enriched acidic protein;OTTHUMP00000161694;brain acid soluble protein 1;brain acid-soluble protein 1;neuronal axonal membrane protein NAP-22;neuronal tissue-enriched acidic protein APPROVED protein-coding ENSG00000176788 957 08389 605940 REVIEWED 1312643 BATF basic leucine zipper transcription factor, ATF-like The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008] 14 14 q24.3 75058537 75083086 + 75988784 76013335 + 1580863;6480464 8570175;8630063;16189514;15489334;12809553;12719594;12594265;12508121;12477932;10777209;9745044;8954125;20453842;15342556;20890291;20211142;21833088 10538 G3V266;Q16520 ABBA01030697;AC007182;AF016898;AMYH01005860;BC032294;BP235761;CH471061;D42106;NM_006399;U15460 AAC50314;AAC78243;AAD51372;AAH32294;BAA07686;EAW81234;NP_006390;Q16520 Hs.509964 1682928;2136526;2139591;2167945 G35460;G35803;RH98930;STS-U15460 B-ATF;BATF1;SFA-2;SFA2 B-cell-activating transcription factor;OTTHUMP00000246169;SF-HT-activated gene 2 protein;activating transcription factor B;basic leucine zipper transcriptional factor ATF-like APPROVED protein-coding ENSG00000156127 958 09820 612476 REVIEWED 1602111 BATF3 basic leucine zipper transcription factor, ATF-like 3 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009] 1 1 1 q32.3 186085819 186099376 - 210926383 210939950 - 212859759 212873327 - 6480464 10878360;15467742;14702039;12805554;12477932;12087103;11329013;12650714;12101239 55509 Q9NR55 ABBA01048166;AF255346;AK093671;AK094854;AL591647;AMYH01001708;AMYH01001709;BC117489;BC117491;BG184570;CH471100;NM_018664 AAF73966;AAI17490;AAI17492;ADR82815;EAW93381;NP_061134;Q9NR55 Hs.62919 2107639 SNFT__6873 FLJ36352;FLJ37535;JDP1;JUNDM1;SNFT 21 kDa small nuclear factor isolated from T-cells;21-kD small nuclear factor isolated from T cells;B-ATF-3;Jun dimerization protein 1;Jun dimerization protein p21SNFT;OTTHUMP00000034931;basic leucine zipper transcriptional factor ATF-like 3 APPROVED protein-coding ENSG00000123685 28915 18081 612470 REVIEWED 1602989 BATF2 basic leucine zipper transcription factor, ATF-like 2 11 11 11 q13.1 62081362 62090462 - 64511993 64521093 - 64755417 64764517 - 6480464 19074269;16713569;16189514;14702039;12477932;20531301;19060904;20473897;21867603;21892628;21988832;23049725 116071 B4DV37;E9PJ73;Q8N1L9 ABBA01024138;AK092453;AK096702;AK300917;AMYH01003716;AP000436;BC011931;BC012330;CH471076;HM134154;NM_138456 AAH12330;ADJ55304;BAC03894;BAC04846;BAG62549;EAW74330;EAW74331;NP_612465;Q8N1L9 Hs.124840 1737985;1768945;2109509 D11S3587;L18080;MGC20410__7686 MGC20410;SARI B-ATF-2;OTTHUMP00000230540;OTTHUMP00000230788;basic leucine zipper transcriptional factor ATF-like 2;suppressor of AP-1 regulated by IFN protein-coding ENSG00000168062 25163 14470 614983 VALIDATED 1314679 BAZ1A bromodomain adjacent to zinc finger domain, 1A The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010] 14 14 q13.2 34291688 34414604 - 35221937 35344853 - 1580863;6480464 17519354;17081983;16877760;14702039;12477932;10880450;10662543;10655480;11980720;12374985;12198550;15780937;15231748;19450608;20033039;20379614;19394292;21172662;14759371;12434153;21252943;22939629;21738833;19596686;21745822;19322201;19471022;21139048;21549307;21693764;21890473;22242598;22505724;22952844 11177 H0YJ68;H0YJ74;H0YJP5;Q9NRL2 AB032252;AB209255;ABBA01061484;ABBA01061485;ABBA01061486;AF086397;AF161435;AF213467;AF221130;AK027289;AL050089;AL121603;AL355885;AMYH01005661;AMYH01005662;BC020636;BC108711;CB217757;CH471078;HI574156;HI574158;NM_013448;NM_182648 AAF28995;AAF32366;AAF70601;AAH20636;AAI08712;AAI56492;BAA89209;BAD92492;BAG51300;CAB43261;CBX47567;CBX47568;EAW65900;EAW65901;EAW65902;EAW65903;EAW65904;EAW65905;NP_038476;NP_872589;Q9NRL2 Hs.509140 1678347;1700960;1776065;1849784;2164311 G35901;G36258;RH104107;RH44609;RH98236 ACF1;DKFZp586E0518;FLJ14383;WALp1;WCRF180;hACF1 ATP-dependent chromatin remodeling protein;ATP-dependent chromatin-remodeling protein;ATP-utilizing chromatin assembly and remodeling factor 1;CHRAC subunit ACF1;OTTHUMP00000178813;OTTHUMP00000244406;bromodomain adjacent to zinc finger domain protein 1A;hWALp1;williams syndrome transcription factor-related chromatin-remodeling factor 180 APPROVED protein-coding ENSG00000198604 960 605680 VALIDATED 1314248 BAZ1B bromodomain adjacent to zinc finger domain, 1B This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 q11.23 72492676 72574544 - 72854728 72936615 - 1580863;6480464 23085504;16252006;19092802;11124022;17081983;16603771;16565220;16514417;15635413;15302935;15543136;14702039;12853948;12477932;11980720;10662543;9858827;9847074;9828126;18162579;20657596;21490707;20802025;20864672;20580033;20628086;16344560;19060906;19060911;19656773;19776015;19913121;19394292;19454010;21326359;17250953;22939629;22412018;23505323;23752268;21252943;18781797;19596686;22178446;19471022;21139048;21555454;21890473;21906983;21907836;22586326;20195357;22751105;23000965;23263486;22505724 9031 Q9UIG0 AB032253;ABBA01063952;ABBA01063953;ABBA01063954;ABBA01063955;ABBA01063956;ABBA01063957;AC005074;AC005089;AF072810;AF084479;AK123274;AMYH01017533;BC041561;BC050599;BC065029;BC080544;BC136520;BU632531;CH471200;DA739467;NG_027679;NM_032408 AAC97879;AAD04720;AAD08675;AAH65029;AAI36521;AAP22332;BAA89210;EAW69679;EAW69680;EAW69681;NP_115784;Q9UIG0 Hs.743372 1651477;1654361;1663287;1665161;1790431;1790433;1790449;1790451;1854075;2123687;2124774;2125528;2135598;2149723;2157371;2174063;2217062;5113960 BAZ1B_3920;D7S2024;D7S3288;D7S3289;D7S3300;D7S3301;G20570;GDB:1317340;GDB:1317820;GDB:1317822;GDB:1318100;GDB:1318116;GDB:1318124;GDB:1318352;GDB:4585423;GDB:4585619;RH17036;RH65972 WBSCR10;WBSCR9;WSTF OTTHUMP00000160320;OTTHUMP00000197535;Williams-Beuren syndrome chromosome region 10;Williams-Beuren syndrome chromosome region 9;bromodomain adjacent to zinc finger domain protein 1B;hWALp2;transcription factor WSTF;tyrosine-protein kinase BAZ1B;williams syndrome transcription factor;williams-Beuren syndrome chromosomal region 10 protein;williams-Beuren syndrome chromosomal region 9 protein APPROVED protein-coding ENSG00000009954 961 10416 605681 REVIEWED 735389 BBC3 BCL2 binding component 3 This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 19 19 q13.3-q13.4 52415924 52426291 - 47724079 47736023 - 1580863;2314029;2313994;6480464;6907045;634629 19641503;19095966;12913114 17934815;15721256;21997190;22394200;11463391;11463392;16608847;19587239;19380879;19064725;19028473;18941118;18835564;18811981;18579560;18573879;18367875;18354037;18324703;18215742;17996028;21863213;22159712;22359675;22086558;22773666;17616685;17393317;17388661;17368424;17360476;17267315;16983338;16462759;16151013;16091745;16007132;15905879;15731089;15731037;15694340;15595728;15574335;15547745;15143349;14634023;14585351;14550297;12963126;12574499;11572983;14993250;17011204;17698840;20413175;20421300;12477932;14702039;16697956;19421143;19439449;19444283;19641508;19660860;19679565;19737931;19815839;19851330;19966853;20075864;20206402;19638343;20478995;21044367;21048031;20430872;20813046;20419447;20418652;21042732;21159778;20978166;17024184;21364664;23001513;21153863;21490394;21633093;21613222;20723285;21887277;21699775;19652530;21151175;21364604;21486225;22174832;21868573;17289999;21730980;15174051;22286758;22130069;22446329;22021910;21120639;22178394;22283740;23220852;23243310;22763818;23340338;22997714;19050264 27113 Q96PG8;Q9BXH1 AA887822;ABBA01041015;ABBA01041016;ABBA01041017;ABBA01041018;AC008532;AF332558;AF354654;AF354655;AF354656;AK124984;AK298837;AMYH01009876;AMYH01009877;BC136481;BG258126;CH471126;NG_031991;NM_001127240;NM_001127241;NM_001127242;NM_014417;U82987 AAB51243;AAI36482;AAK31316;AAK39542;AAK39543;AAK39544;BAG60965;EAW57465;EAW57466;EAW57467;NP_001120712;NP_001120713;NP_001120714;NP_055232;Q96PG8;Q9BXH1 Hs.467020 1769759;2218736 BBC3_3813;RH70710 FLJ42994;JFY-1;JFY1;PUMA JFY-1;bcl-2-binding component 3;p53 up-regulated modulator of apoptosis APPROVED protein-coding ENSG00000105327 17868 16165 605854 REVIEWED 70373 BAX BCL2-associated X protein The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.3-q13.4 54149929 54156867 + 49458117 49465055 + 734633;734634;734632;1300048;1579984;1579966;1643353;1643354;1643355;2293026;2293073;1643352;1643356;2292907;2313963;2314021;2311240;2314140;2290557;2296025;2313998;2296023;2313975;2291908;6480464;6484113;6907045;7248687;7248688 9020077;9531611;7569956;12234300;15632274;17626754;17575222;17454944;18221257;17639989;17694953;17288732;18444130;18817839;19820199;18991018;18959742;18083315;17390059;18931364;18452128;17322918;18317887;22614867;22419868 21069436;14980220;9130713;22418443;22015607;22366766;15705586;17052454;14522999;9111042;16608847;15214043;16424160;15073604;11350920;9843949;16462759;10702418;12499352;14769861;15637643;16307838;10739008;10629050;11912183;11136736;19573080;19541585;19463775;19453261;19439472;19429011;19380879;19376889;19360919;19336552;19278624;19266703;19265193;19237173;19228953;19221769;19196429;19177010;19157504;19150424;19141860;19125733;19101510;19074885;19074440;19056676;19054058;19031258;18979557;18974096;18948948;11759062;11759059;11642719;11574543;11571294;11437653;11283018;11278245;11259440;11175336;11175251;11161816;11106734;11060313;10908576;10854321;10837489;10772918;10753914;10620603;10437917;10365962;10200447;9988273;9920818;9748162;9742125;9565621;9463381;9449720;9153240;9027312;8961277;8889548;8760290;8580080;8521816;8358790;7834749;7607685;7566098;15033690;11602639;10942389;15555592;16235026;10381646;15637055;12070120;12137781;9824152;15231068;18941118;18936968;18925695;18840646;18818304;18818203;18814044;18813857;18812638;18793611;18772168;18705844;18705408;18695676;18692524;18676680;18676372;18670882;18665919;18651223;18651163;18644472;18642056;18636124;18594472;18590778;18590739;18568448;18563851;18546202;18534994;18511705;18508723;18494554;18481805;18474606;18472157;18472156;18462830;18454316;18453545;18449500;18445700;18415689;18415681;18395515;18390829;18375382;18362892;18362350;18344566;18331646;18307410;18299329;18299320;18282575;18259191;18259190;18258596;18251703;18240345;18223689;18214681;18211414;18195012;18193434;18178565;18177350;18160666;18158779;18089567;18074738;18059532;18054155;18034190;18023359;18019411;18006836;18006817;18006502;17997990;17996028;17993285;17990907;17981213;17978676;17927572;17927446;17912641;17911107;17905238;17900801;17880809;17855051;17693666;17686764;17676485;17668322;17666167;17635912;17635522;17634542;17562177;17556360;17535899;17534116;17525161;17519046;17513609;17509221;17499214;17496930;17494694;17486058;17438390;17438366;17426704;17404017;17395004;17388661;17346710;17335847;17289842;17235284;17213822;17203211;17203183;17171827;17140287;17118768;17107772;14963330;14767525;14766748;14730312;14719078;14716828;14714449;14704000;14698203;14681224;14661970;14647455;14647416;14634023;14631373;14628086;14612938;14612448;14606101;14596892;14559989;14550297;12970744;12963997;12917444;12907654;12853473;12837286;12816867;12808108;12782632;12767928;12749011;12743423;12737446;12732850;12606781;12592374;12583439;12579342;12575534;12510156;12496485;12490315;12481899;12477932;12477729;12454021;12445631;12439925;12426317;12419244;12408758;12393884;12393866;12389125;12388688;12359369;12270344;12215842;12215338;12214154;12193163;12189556;12176904;12169275;12165421;12161031;12151395;12082629;12070030;12058280;12036888;12032841;12025227;12023951;11997495;11994280;11992551;11949842;11943780;11932420;11929871;11922616;11912124;11911971;11909872;11899739;11894116;11875499;11869962;11867266;11852106;11850816;11842081;11839683;11839668;11787859;11782443;17091766;17084966;17074758;17067385;17015762;17015472;16987815;16949642;16946732;16874066;16855163;16832704;16830365;16810067;16709574;16645094;16642033;16611260;16603637;16575548;16572399;16568093;16552754;16538501;16518869;16485142;16479009;16472763;16443387;16436379;16410245;16380996;16344548;16307023;16246184;16229013;16215676;16186627;16172118;16172114;16151013;16148027;16139338;16132718;16113678;16085058;16010425;15962362;15949439;15901672;15889622;15846375;15843890;15832769;15830715;15806163;15782132;15773546;15770735;15767261;15764647;15757910;15743760;15743033;15735709;15735127;15694358;15688029;15657356;15655830;15642728;15638363;15613549;15574335;15516208;15489334;15484294;15467752;15459197;15383280;15375604;15375594;15351796;15322047;15314639;15304079;15302859;15298965;15292938;15262986;15258908;15158440;15149158;15148411;15096513;15037603;15024076;14971737;10620799;11742726;17897954;12901880;11850803;16009130;15893728;15710329;14752512;9372935;15607964;20431057;21725926;22052011;22109662;22159712;21367852;19636580;17007374;20683843;9219694;9388232;20503275;21159883;19745831;18664350;20565851;19475409;22761420;21199865;20200776;11251969;18029348;19062087;20819778;20855536;20877624;20959405;21048031;20584903;20850011;20803149;20683914;21115898;21123558;12839682;15077116;15131699;17097560;17274640;17643375;17823127;18718060;18835031;19170196;19351510;19363595;19439449;19481066;19494020;19564333;19587033;19625176;19629483;19655415;19657228;19660860;19680558;19692168;19692349;19700502;19723045;19729672;19737817;19773279;19801665;19805544;19809877;19846939;19875445;19880508;19888426;19895710;19898928;19931389;19937732;19938958;19955813;19956635;19968986;20015862;20045442;20075864;20101465;20130137;20180421;20308427;20333643;20346360;20360684;20382739;20453000;20485298;20627094;20728382;21070973;20140092;20490654;21041309;19913121;20628086;20644561;20723427;20561923;20929130;20929131;22736223;23289213;21245196;21414921;21060336;21712378;20966963;21196320;21506333;21156403;21173168;20034877;21122152;21138867;21458670;18928586;18928588;21148306;15102863;20732674;20942963;22675938;23213219;23383273;15388581;20114030;21042904;19035131;21029589;21067292;21223758;20300062;20865015;21695182;21778226;21289292;22748563;23088735;23297497;23324193;21565982;21751259;20423844;21746927;22949938;17803695;21606679;21978892;22037145;21090097;21597469;20416158;20723294;21642427;21642428;21852238;21953454;22072718;15254227;18719392;18973553;19319745;19812265;20340172;20404718;20960177;21483469;21521785;22262057;22524261;22526391;22552851;22629415;22685558;22732402;22745744;19247369;21706237;21810274;21952639;22014978;22141411;21530645;21903925;21729540;21887277;22297694;22484496;22442678;22570867;17289999;18727869;21139048;21890473;21906983;21936009;22065578;22067154;22198199;21674599;21785112;21861179;21949851;22278385;22590594;22645134;22668011;20652449;21717192;21862870;21947543;20822926;21567405;22053931;22906710;23000965;10620504;21819468;21883444;21907236;22189282;22246181;22277657;22309278;22201672;21104343;21752397;21847364;22056880;22292626;22544745;22560721;22719244;22910913;22995373;23151600;23170075;23283967;23329846;23389372;10716992;19118032;19148187;22440942;22707322;23421973;23421021;22860893;23038985;23140172;22729748;22785534;22852863;22892098;23049480;23487455;22710714;23151078;23291169;23824909;23442864;22479585 581 H0YA56;Q9UCZ6 ABBA01032954;ABBA01032955;AC026803;AF007826;AF008195;AF008196;AF020360;AF247393;AF250190;AF339054;AI565203;AJ417988;AJ586909;AJ586910;AK291076;AMYH01009908;AY217036;BC014175;BE396495;BM706954;CH471177;HQ889830;JX524562;L22473;L22474;L22475;NG_012191;NM_004324;NM_138761;NM_138763;NM_138764;NR_027882;T29044;U19599 AAA03619;AAA03620;AAA03621;AAC50142;AAD01415;AAD01416;AAD22706;AAF71267;AAF82094;AAH14175;AAL73333;AAO22992;ADZ05507;AFU81108;BAF83765;CAD10744;CAE52909;CAE52910;EAW52415;EAW52416;EAW52417;EAW52418;EAW52419;EAW52420;EAW52421;NP_004315;NP_620116;NP_620118;NP_620119;Q07812 Hs.624291 1783834;1788050;1788052;1793556;1793758;2133175;2190753;5117971 G67254;G67255;GDB:632822;PMC230316P5;PMC27116P1;RH47233;SHGC-156277;UniSTS:265693 BCL2L4 BCL2-associated X protein omega;BCL2-associated X protein transcript variant delta2;OTTHUMP00000218291;OTTHUMP00000218292;OTTHUMP00000218293;OTTHUMP00000218294;OTTHUMP00000218295;OTTHUMP00000218296;apoptosis regulator BAX;bcl-2-like protein 4;bcl2-L-4 APPROVED protein-coding ENSG00000087088 959 02498 600040 REVIEWED 1320334 BAZ2B bromodomain adjacent to zinc finger domain, 2B 2 2 2 q24.2 153787429 154084921 - 159883736 160181305 - 160175490 160473059 - 1580863;6480464 17081983;15489334;14702039;12477932;10819331;10662543;16189514;21738491;18482256;20802025;19322201 29994 C9JCA6;F6VJC3;H7BXK5;H7C092;H7C1I6;Q9UIF8 AB032255;AB040909;ABBA01004862;ABBA01004863;ABBA01004864;AC008277;AC009506;AK000386;AK027612;AK074895;AK127551;AK307683;AL080173;AL834381;AMYH01011205;AMYH01011206;BC012576;BC068527;BC107570;BX641037;BX647250;CH471058;NM_013450 AAH12576;AAI07571;AAI56488;AAY24281;BAA89212;BAA96000;BAB55231;BAC11274;CAB45759;CAD39044;CAE46023;EAX11403;EAX11404;EAX11405;EAX11406;EAX11407;NP_038478;Q9UIF8 Hs.470369 1648553;1669810;1681306;1683192;1699516;1706146;1709686;1710802;1717739;1734248;1769338;1771611;1848027;2171069;5014051;5015619;5016478;5017773;5021872;5022463;5022578;5022651;5037552;5126961 165XA1;BAZ2B;D11S2921;D11S3114;D1S1423;D2S1307;D2S1500E;D2S1967;D2S2117;D2S2829;D3S1673;D8S2278;D8S2279;GDB:434012;RH103352;RH121777;RH65361;RH92799;RH98458;SHGC-80116;SHGC-84142;SHGC-86329;WI-20141;sY3084 DKFZp434H071;DKFZp762I0516;FLJ45644;WALp4 OTTHUMP00000162897;OTTHUMP00000162898;bromodomain adjacent to zinc finger domain protein 2B;hWALp4 protein-coding ENSG00000123636 963 09295 605683 VALIDATED 1312828 BAZ2A bromodomain adjacent to zinc finger domain, 2A 12 12 12 q13.3 56642037 56681875 - 55275647 55316430 - 56989380 57030163 - 1580863;6480464 11532953;17672918;17081983;15489334;15302935;14702039;12477932;9205841;12198165;10662543;17474147;15292447;19578370;16085498;21252943;19471022;21139048;21890473;21906983;22586326;22139419 11176 F8VU39;F8VWQ3;F8W053;H0YHL2;H0YHQ7;H0YII3;J3KPG5;J3QK86;Q9UIF9 AB002312;ABBA01008429;ABBA01008430;ABBA01008431;ABBA01008432;AC090681;AF000422;AK023830;AK023842;AK127775;AK303327;AMYH01004506;BC008965;BC065914;CD686304;CH471054;CR749379;NM_013449 AAB60864;AAH08965;AAI52740;BAA20773;BAG51228;BAH13943;CAH18232;EAW96949;EAW96950;EAW96951;NP_038477;Q9UIF9 Hs.314263 1661902;1745965;1751887;1778120;2117100;2122595;2144982;2166125;2187670;2217064 A008S22;BAZ2A_3784;M27132;RH124269;RH69868;RH78335;SHGC-105788;STS-N33267;T15358;WI-12396 DKFZp781B109;FLJ13768;FLJ13780;FLJ45876;KIAA0314;TIP5;WALp3 OTTHUMP00000243520;OTTHUMP00000243521;OTTHUMP00000243523;TTF-I interacting peptide 5;TTF-I-interacting protein 5;bromodomain adjacent to zinc finger domain protein 2A;hWALp3;transcription termination factor I-interacting protein 5 protein-coding ENSG00000076108 962 10417 605682 VALIDATED 732171 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008] 11 11 p14.2 27019085 27105930 + 27062509 27149354 + 1580863;1300048;6480464;6907045 9753662;10526231;19240061;17110165;16344560;15489334;12477932;7156861;6497835;3378057;3110383;1962562;1735445;16169070;20599753;18029348;20379614;20877624 8424 E9PKC9;O75936 ABBA01060975;ABBA01060976;AC015756;AC016450;AF082868;AK290108;AK313422;AMYH01003456;BC011034;CH471064;CR456812;DA268467;DQ471856;DQ471857;DQ471858;DQ471859;DQ471860;DQ471861;DQ471862;DQ471863;DQ471864;DQ471865;DQ471866;DQ471867;DQ471868;DQ471870;NM_003986 AAC64066;AAH11034;ABF17859;ABF17860;ABF17861;ABF17862;ABF17863;ABF17864;ABF17865;ABF17866;ABF17867;ABF17868;ABF17869;ABF17870;ABF17871;ABM83703;ABM87023;ACE87221;BAF82797;BAG36214;CAG33093;EAW68290;EAW68291;NP_003977;O75936 Hs.591996 1683964;1698930;1737057;1739895;1750767;2139404;2144695;5092818 A006G34;D11S2804;D11S4058;G32349;RH103034;RH79794;SHGC-102216;WI-18141 BBH;BBOX;G-BBH;gamma-BBH OTTHUMP00000231947;OTTHUMP00000231949;OTTHUMP00000231950;gamma-butyrobetaine dioxygenase;gamma-butyrobetaine hydroxylase;gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 APPROVED protein-coding ENSG00000129151 964 04498 603312 REVIEWED 2300355 BBIP1 BBSome interacting protein 1 BBIP10 functions in ciliogenesis and stabilization of cytoplasmic microtubules (Loktev et al., 2008 [PubMed 19081074]).[supplied by OMIM, Nov 2010] 10 10 10 q25.2 106390095 106410721 - 112647496 112669114 - 112658488 112679124 - 6480464 15489334;15164054;14702039;12477932;20603001;19081074;19549489 92482 A8MTZ0;E9PIK7 ABBA01063020;AK021501;AK025724;AK307126;AK307314;AL158163;AMYH01003064;BC015550;BC062778;BC073157;BC104248;BC104249;BC105804;BC113000;BC113001;BI552279;DB450918;NM_001195304;NM_001195305;NM_001195306;NM_001195307;NM_001243783 A8MTZ0;NP_001182233;NP_001182234;NP_001182235;NP_001182236;NP_001230712 Hs.232543;Hs.651480 1664595;1670371;1673808;1717557;1739127;1754713;1796486;1851165;2140131;2146685;5015961 D10S1524;D15S1477;PDCD4_1402;RH122083;RH44657;RH45457;RH68025;SHGC-133074;SHGC-35716;SHGC-64020;STS-AA001983 BBIP10;NCRNA00081;bA348N5.3 BBSome-interacting protein 1;BBSome-interacting protein of 10 kDa;OTTHUMP00000231465;OTTHUMP00000231467;OTTHUMP00000231468;UPF0604 protein;non-protein coding RNA 81 APPROVED protein-coding ENSG00000214413 28093 613605 VALIDATED 1603548 BBS12 Bardet-Biedl syndrome 12 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] 4 4 4 q27 121036879 121049116 + 123873307 123885548 + 123653857 123666098 + 6480464;7240710 19190184;17160889;14702039;12477932;20472660;20193073;20827784;20301537;22958920 166379 C9J8H7;Q6ZW61 ABBA01044741;AC053545;AK092949;AK123553;AMYH01014493;BC055426;BC065708;BX538148;CD359068;CH471056;NG_021203;NM_001178007;NM_152618 AAH55426;BAC04006;BAC85644;CAD98035;EAX05223;EAX05224;NP_001171478;NP_689831;Q6ZW61 Hs.400698 1697562;1777102;2119802 D4S2648;RH102291;SHGC-67243 C4orf24;FLJ35630;FLJ41559 Bardet-Biedl syndrome 12 protein;OTTHUMP00000164085;OTTHUMP00000196371 APPROVED protein-coding ENSG00000181004 26648 08759 209900;610683 REVIEWED 1316858 BBS1 Bardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] 11 11 q13 66034695 66057660 + 66278119 66301084 + 1579968;1579969;1601314;6480464;7240710 12677556;12524598;14993910 18000879;17980398;17574030;19077438;18766993;17065520;15517396;15489334;15314642;14702039;12837689;12567324;12477932;12118255;11096143;10577922;10577921;9039982;18669544;19615732;20801516;20301537;23143442;21520335;21097510;19150989;21906983;21926972;16327777;22410627;22940089 582 B4DYY3;E7EQH1;E9PJ28;E9PMB7;E9PPR3;E9PQD9;E9PQK2;E9PR55;Q32MM9;Q8NFJ9 ABBA01024074;AF503941;AK027243;AK095638;AK294962;AK296311;AK302657;AMYH01003735;AP002748;BC047642;BC109064;BC109065;BX647612;CH471076;NG_009093;NM_024649 AAH47642;AAI09065;AAI09066;AAM92770;BAB15704;BAG58036;BAG59009;BAG63895;CAI46060;EAW74542;NP_078925;Q8NFJ9 Hs.502915 1698738;2116648 RH102931;SHGC-30733 BBS2L2;FLJ23590;MGC126183;MGC126184;MGC51114 BBS2-like protein 2;Bardet-Biedl syndrome 1 protein;OTTHUMP00000235218;OTTHUMP00000235220;OTTHUMP00000235221;OTTHUMP00000236623 APPROVED protein-coding ENSG00000174483;ENSG00000256349 966 01950 209900;209901 REVIEWED 1605944 BBS10 Bardet-Biedl syndrome 10 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] 12 12 q21.2 75262397 75266353 - 76738266 76742222 - 6480464;7240710 17980398;19190184;17101080;16823392;16582908;16344560;15489334;14702039;12477932;20827784;20472660;20801516;17106446;17160889;20193073;8125298;20301537;20805367;22053931;23000965;23403234;21900206;21906983;23219996 79738 Q8TAM1 ABBA01053548;AC117491;AI673014;AK027213;AK225585;AK304178;AMYH01004599;BC013795;BC026355;CH471054;DA095453;DR155669;GN088052;NG_016357;NM_024685 AAH13795;AAH26355;ADZ15961;BAB15695;BAH14128;CAX86889;EAW97322;EAW97323;NP_078961;Q8TAM1 Hs.96322 1699188;2177157;2182723 G31485;RH103174;SGC44443 C12orf58;FLJ23560 Bardet-Biedl syndrome 10 protein;OTTHUMP00000190861 APPROVED protein-coding ENSG00000179941 26291 08036 209900;610148 REVIEWED 1321789 BBS5 Bardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] 2 2 q31.1 170044252 170071411 + 170336006 170363165 + 1579974;1580863;6480464;7240710 15137946 17574030;11256614;19077438;18203199;16381901;15815621;15489336;15489334;16327777;15342556;14702039;12477932;11230166;11076863;10053027;9888993;8889549;20801516;20301537 129880 E9PBE3;F8WBR7;Q8N3I7 AA043704;ABBA01014888;ABBA01014889;ABBA01014890;AC093899;AK097935;AK312680;AL834305;AMYH01011247;AY604003;AY604004;BC044593;BP311042;CA336791;CD245392;CH471058;CS300753;H09195;NG_011567;NM_152384 AAH44593;AAT08182;AAT08183;AAY24116;CAD38975;CAK32417;CAL38098;EAX11276;EAX11277;EAX11278;EAX11279;NP_689597;Q8N3I7 Hs.233398 1653712;5020274 D2S1854;L18441 Bardet-Biedl syndrome 5 protein;OTTHUMP00000163062;OTTHUMP00000204766;OTTHUMP00000221822 APPROVED protein-coding ENSG00000163093 970 10353 209900;603650 REVIEWED 1319306 BBS4 Bardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009] 15 15 q22.3-q23 70765588 70817869 + 72978520 73030817 + 1579971;1601311;6480464;7240710 15107855;17003356 21145461;17574030;14520415;18299575;19077438;15497446;15489334;14702039;12872256;12477932;12365916;12016587;11381270;9126487;8889548;7711739;18000879;20379614;20508983;20801516;20301537;18029348;21906983;22219648 585 F5H7I8;H3BN76;H3BPP7;H3BQV7;H3BRY9;H3BSE2;H3BSL2;H3BU58;H3BUQ7;H3BUU1;H3BV56;Q96RK4 ABBA01038721;ABBA01038722;ABBA01038723;ABBA01038724;AC009712;AF359281;AK075321;AK298922;AK302224;AK303706;AK310106;AK314507;AMYH01006770;AY457143;BC008923;BC027624;BI562463;BM664845;BX647855;CH471082;DC320069;DC372967;NG_009416;NM_001252678;NM_033028;NR_045565;NR_045566 AAH08923;AAH27624;AAK58868;AAS13441;ABM82445;ABM85635;BAC11547;BAG37107;BAG61027;BAG64690;BAH13654;EAW77912;EAW77913;NP_001239607;NP_149017;Q96RK4 Hs.208681 1672642;1700188 D15S1270;RH103709 Bardet-Biedl syndrome 4 protein;OTTHUMP00000164777 APPROVED protein-coding ENSG00000140463 969 08982 209900;600374 REVIEWED 732435 BBS2 Bardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins.[provided by RefSeq, Jan 2009] 16 16 q21 55075798 55111696 - 56518259 56554008 - 70665;734635;1601311;1579971;1580863;6480464;7240710 11285252;8298649;17003356;15107855 18000879;17574030;18299575;19077438;16344560;16189514;15489334;14702039;12872256;12837689;12677556;12567324;12477932;11567139;11096143;8889548;20801516;19666486;19913121;20628086;20301537;20618352;19150989;22505724;22797925;21963094;23000965;21906983;21890473;16327777 583 H3BNS7;H3BQ79;H3BRL0;J3QKP7;J3QLW0;Q9BXC9 AB208905;ABBA01025246;AC009155;AC026461;AC092140;AF342736;AK027635;AK127290;AK289604;AK309068;AL834176;AMYH01007690;BC014140;BM982214;CH471092;DA437930;DB316257;NG_009312;NM_031885 AAH14140;AAK28552;ABM83606;ABM86849;BAB55252;BAD92142;BAF82293;CAD38873;EAW82863;EAW82864;NP_114091;Q9BXC9 Hs.333738 1644493;1771635;2109079;5022200;5022450;5022578;5037552 A004I06;BBS2_8224;D10S275;D1S1423;D8S2279;L18426;STS-N93740 BBS;MGC20703 Bardet-Biedl syndrome 2 protein;bardet-biedl syndrome 2 (human) APPROVED protein-coding ENSG00000125124 967 05855 209900;606151 REVIEWED 1319511 BBS7 Bardet-Biedl syndrome 7 This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011] 4 4 4 q27 120131451 120177481 - 122965085 123011092 - 122745484 122791652 - 1579975;6480464;7240710 12567324 16327777;18000879;17574030;19402160;19093007;19077438;15815621;15489334;14702039;12477932;11567139;20801516;20301537;16344560;20080638;20472660;20603001;21890473;21906983;20195357 55212 H0Y973;Q8IWZ6 ABBA01044731;ABBA01044732;AC079341;AF521643;AF521644;AI220177;AK001577;AK308076;AK309803;AMYH01014492;BC032691;BF431967;BG720664;BM998707;BQ940332;BX510161;CH471056;DB139794;NG_009111;NM_018190;NM_176824 AAH32691;AAO16025;AAO16026;AAY40970;ABM81814;ABM87809;BAA91767;EAX05244;EAX05245;NP_060660;NP_789794;Q8IWZ6 Hs.591694 1663932;1665396;2130253 SHGC-50595;STS-N20583;WI-3537 BBS2L1;FLJ10715 BBS2-like 1;BBS2-like protein 1;Bardet-Biedl syndrome 7 protein;OTTHUMP00000164091;OTTHUMP00000219992 2289563 BW441_H APPROVED protein-coding ENSG00000138686 18758 07399 209900;607590 REVIEWED 1603660 BBS9 Bardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 p14 33135677 33612205 + 33169152 33645680 + 6480464;7240710 17574030;18349106;16380913;15489334;14702039;12690205;12618763;12477932;10221542;18029348;20801516;20161521;20379614;20301537;22479622;23160099 27241 C9JJ08;C9JRR5;E7EX43;E9PDC9;F8WCG5;H7BZ69;Q9Y6A0 AACC02000103;ABBA01056862;ABBA01056863;ABBA01056864;ABBA01056865;ABBA01056866;ABBA01056867;ABBA01056868;ABBA01056869;ABBA01056870;ABBA01056871;ABBA01056872;AC006195;AC007312;AC074338;AC078833;AC087070;AF095769;AF095770;AF095771;AK057660;AK091361;AK297436;AK314627;AL704922;AMYH01017166;BC032715;BC103831;BI254810;BX647385;CH471073;NG_009306;NM_001033604;NM_001033605;NM_014451;NM_198428;U85994;U85995;U85997;U87408 AAB46606;AAB47568;AAB61918;AAB61919;AAD25980;AAD25981;AAH32715;AAI03832;BAG51948;BAG52340;BAG59863;EAL24466;EAL24467;EAW94015;EAW94016;EAW94017;EAW94018;NP_001028776;NP_001028777;NP_055266;NP_940820;Q3SYG4 Hs.372360 1643644;1664815;1710026;1711808;1711810;1711812;1711814;1711816;1715161;1716343;1726423;1726543;1735636;1753113;1753259;1775086;1776119;1786316;1786452;1849003;1849026;1851466;1855944;2110279;2117528;2117533;2118248;2119313;2146539;2147940;2150895;2154300;2156448;2164966;2167973;2172548;2176129;2182952;5092660 A005O06;AFMb073zc9;B1__4409;D7S1654;D7S2045E;D7S2211;D7S2369;D7S2758;D7S3023;G16033;G16034;G16035;G17153;G32246;G49431;G49432;G49433;G49434;G49435;G62591;G62652;GDB:1317160;GDB:1317164;GDB:1317274;GDB:1317524;GDB:1317644;GDB:1317780;GDB:1318148;GDB:3754215;RH119831;RH121349;SHGC-110128;SHGC-154772;SHGC-172299;SHGC-68722;SHGC-82287;U10572;WI-14062;WI-16854 B1;C18;D1;MGC118917;PTHB1 OTTHUMP00000158833;OTTHUMP00000202918;OTTHUMP00000202919;OTTHUMP00000202920;PTH-responsive osteosarcoma B1 protein;bardet-Biedl syndrome 9 protein;parathyroid hormone-responsive B1 gene protein;protein PTHB1 APPROVED protein-coding ENSG00000122507 30000 16262 209900;607968 REVIEWED 1349826 BCAR2 breast cancer anti-estrogen resistance 2 9259413 9565 972 1347055 BCAP29 B-cell receptor-associated protein 29 7 7 7 q22.3 102025694 102069076 + 107007946 107058401 + 107220422 107263762 + 737633;1580863;6480464 12477932 18097552;16344560;15489334;15342556;14702039;12886015;12853948;11591653;10931946;10737800;8889548;20677014;20237496;21068099;21378988;21890473;21906983;19322201;19342655 55973 A6NME1;B7Z2L0;C9IYK6;C9JGJ9;C9JP06;C9JTE9;E9PAJ1;F8WB99;F8WDG1;H0Y7N8;H7C5E2;Q9UHQ4 AA826200;AACC02000004;ABBA01057906;AC004839;AC078937;AF126020;AI684765;AK000878;AK289401;AK294824;AK298594;AMYH01017830;AW978976;AW994087;BC008478;BE006248;BF434482;BG616638;BG776708;BG818947;BM023571;BM931263;BP261060;BQ188814;BQ230678;BT006981;BX101190;BX457671;BX647653;CH236947;CH471070;CK820004;DA569360;DA717500;EB388415;H40966;NM_001008405;NM_018844;NR_027830 AAC83971;AAF17230;AAH08478;AAP35627;BAF82090;BAH11896;BAH12820;EAL24390;EAW83405;EAW83406;EAW83407;EAW83408;EAW83409;EAW83410;EAW83411;NP_001008405;NP_061332;Q9UHQ4 Hs.303787 1647334;1652252;1657563;1659881;1677426;1848268;1851064;2138176;2163634;5037552 A007D21;D7S2087E;D7S2317;D8S2279;GDB:1318014;RH12603;RH91976;SGC30522;SHGC-56363;WI-15161 BAP29;DKFZp686M2086;FLJ53907 B-cell receptor-associated protein 29;BCR-associated protein 29;OTTHUMP00000206633;OTTHUMP00000206634;OTTHUMP00000206639;OTTHUMP00000214583;OTTHUMP00000214584;OTTHUMP00000214585;OTTHUMP00000214586 protein-coding ENSG00000075790 24131 16541 VALIDATED 1320282 BBX bobby sox homolog (Drosophila) 3 3 3 q13.1 105638147 105926340 + 108724480 109007399 + 107241783 107530050 + 1580863;6480464 19322201;19240061;16344560;15728473;15489334;14702039;12477932;9110174;8889548;8619474;11680820;11230166;19247474;21832049;19471022;19953087;21693764 56987 A2RRM7;A8K6U2;C9IYG9;C9IYS9;C9J067;C9J0J4;C9J8D0;C9JA69;C9JC04;C9JD74;C9JE62;C9JIZ2;C9JNU3;C9JSH4;C9JYU6;C9JZA0;C9K0D1;H7C1Q0;H7C1U1;Q8WY36 ABBA01061708;ABBA01061709;ABBA01061710;ABBA01061711;AC068765;AC072044;AC117477;AF052174;AF161457;AF168718;AF276948;AF276949;AF283775;AF454941;AF454942;AI168295;AK025944;AK026082;AK057010;AK130627;AK291757;AK307668;AK314434;AL136769;AL834307;AMYH01013378;AMYH01013379;AMYH01013380;AW131333;AY527413;BC012837;BC110903;BC131718;CH471052;CN479047;DA218136;NM_001142568;NM_001276286;NM_020235 AAF29017;AAF87320;AAH12837;AAI10904;AAI31719;AAL58870;AAL58871;AAL68984;AAL68985;ACE86845;ACE87532;BAB15290;BAB15355;BAC85398;BAF84446;CAB66703;CAD38977;EAW79738;EAW79739;EAW79740;EAW79741;EAW79742;EAW79743;NP_001136040;NP_001263215;NP_064620;Q8WY36 Hs.124366 1339705;1648873;1652995;1659620;1665245;1668564;1673850;1675090;1718787;1727361;1740075;1757103;1776953;1797082;2159051 BBX;D3S2308;D3S2443;D3S3099;D3S3499;D3S4229;G63088;RH123097;SHGC-144489;SHGC-58059;SHGC-77195;STS-N31990;WI-16360;WI-16426;WI-17954 ARTC1;HBP2;HSPC339;MDS001 Ag recognized by Treg cells 1;HMG box transcription factor BBX;HMG box-containing protein 2;OTTHUMP00000197189;OTTHUMP00000197190;OTTHUMP00000197192;OTTHUMP00000197193;OTTHUMP00000197194;x 001 protein protein-coding ENSG00000114439 14422 10688 VALIDATED 68545 BCAM basal cell adhesion molecule (Lutheran blood group) This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 q13.2 50004178 50016518 + 45312316 45324678 + 1580863;6480464 22404936;16236823;7954395;7777537;9166867;19201739;19065527;18815288;18635166;18514010;18510579;18302987;18067501;17638854;16584446;16335952;15790807;15489334;15278364;15238148;14755370;14641871;12754519;12493773;12477932;12244066;11319237;11133776;9642222;9192786;8781446;2907851;17087659;20655789;18972067;19667067;20370913;20562314;21858073;21139048;15342556;3810828;8889548;20566895;21434869;22941965;23001842;23125034;23160466;23168236;23192594;23406016;23421542 4059 K7ENU8;K7ERB7;P50895 ABBA01040885;ABBA01040886;AC092306;AMYH01009842;AMYH01009843;AY845133;AY927517;BC036745;BC050450;BC128254;BM985314;BP352029;BU838291;BX387680;CH471126;HE572749;NG_007480;NM_001013257;NM_005581;X80026;X83425 AAH50450;AAV88096;CAA56327;CAA58449;CCC42285;EAW57294;EAW57295;EAW57296;EAW57297;NP_001013275;NP_005572;P50895 Hs.625725 1677332;1680663;1682519;1694734 RH121966;RH81078;RH91124;RH91463 AU;CD239;LU;MSK19 Auberger b antigen;B-CAM cell surface glycoprotein;B-cell adhesion molecule;F8/G253 antigen;antigen identified by monoclonal antibody F8;basal cell adhesion molecule;basal cell adhesion molecule (Lu and Au blood groups);glycoprotein 95kDa;lutheran antigen;lutheran blood group glycoprotein APPROVED protein-coding ENSG00000187244 6722 00197 111200;247420;612773 REVIEWED 2299009 BCAR4 breast cancer anti-estrogen resistance 4 (non-protein coding) 16 16 16 p13.13 12088006 12097008 - 11913687 11922689 - 11913687 11922689 - 6480464 16778085;20859285;21506106 400500 ABBA01006834;AC010654;AMYH01007160;AMYH01007161;BX107175;HE601934;NR_024049;NR_024050 CCD83327 Hs.24611 1848316 SHGC-61055 APPROVED miscrna ENSG00000262117 22170 613746 VALIDATED 5129001 BCAS2P1 breast carcinoma amplified sequence 2 pseudogene 1 11 11 q14.1 82520728 82526391 + 82843080 82845400 + 100127960 ABBA01017366;AP000873;NG_021825 pseudo 39594 INFERRED 736888 BCAN brevican This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 q31 154878364 154895944 + 156611740 156629324 + 6480464 18029348;16133547;16061654;15489334;14741698;14702039;14550776;14522884;12975309;12477932;11873941;11054543;11038354;10986281;9294172;7592978;18611854;19910543;20950796;16344560;21997179;22930747 63827 Q5T3I6;Q5T3I7;Q5T3I8;Q96GW7 AB209570;ABBA01016652;AF228710;AF229053;AK126588;AK289759;AL137504;AL365181;AL590666;AMYH01001437;AW298823;AY007241;AY358372;BC009117;BC010571;BC013234;BC022938;BC023209;BC027971;BC029313;BC029348;BC035457;CH471121;DB297352;NG_030013;NM_021948;NM_198427 AAG01897;AAG23134;AAG23135;AAH09117;AAH22938;AAH27971;AAQ88738;BAD92807;BAF82448;CAB70776;EAW52927;EAW52928;EAW52929;EAW52930;EAW52931;NP_068767;NP_940819;Q96GW7 Hs.516904 1665834;1711012;2156957;2161060;5037744 D1S3694;RH63843;SHGC-84885;WI-15716;WI-15733 BEHAB;CSPG7;MGC13038 OTTHUMP00000032164;OTTHUMP00000032165;brain-enriched hyaluronan-binding protein;brevican core protein;brevican proteoglycan;chondroitin sulfate proteoglycan 7;chondroitin sulfate proteoglycan BEHAB;chondroitin sulfate proteoglycan BEHAB/brevican APPROVED protein-coding ENSG00000132692 23059 02644;09821 600347 REVIEWED 5128965 BCAS2P2 breast carcinoma amplified sequence 2 pseudogene 2 1 1 99119723 99120345 - 100858592 100859214 - 100421045 ABBA01045439;AC104457;AMYH01000825;NG_026962 pseudo 39595 INFERRED 5128999 BCAS2P3 breast carcinoma amplified sequence 2 pseudogene 3 13 13 13 q31.1 60640336 60640998 + 78638357 78639028 + 79740362 79741024 + 100128339 ABBA01021685;AL161892;AMYH01005226;NG_021971 pseudo 39596 INFERRED 1349319 BCAP31 B-cell receptor-associated protein 31 This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] X X q28 152619146 152643081 - 152965947 152990201 - 1580863;6480464;6907045 8706661;18684816;18555783;18287538;17056546;16858427;16381901;16344560;15772651;15489336;15489334;15294914;15254227;15024066;14702039;12886015;12668660;12594175;12529377;12477932;11992258;11917123;11851433;11561007;11163199;11076863;11042173;10958671;9396746;9334338;8612576;8125298;7806238;18029348;21183955;21103663;23284715;21151997;17500595;16196087;17558393;19519245;21285974;21527846;22056873;22182703;9804161;12605685;15933766;17003517;17401199;19165151;19221507;19342655;15161933;20360068;21947079;20639865;14741744;21139048;21890473;21906983;21963094;14502241;22190034;22505724 10134 C9J0M4;C9JM14;C9JMD7;C9JQ75;C9JSP1;P51572 ABBA01045364;ABBA01045365;ABBA01045366;ABBA01045367;AI123868;AK057613;AK125631;AK222494;AK223059;AMYH01023299;AMYH01023300;AU132745;BC014323;BC065292;BE729820;BG779815;BX474419;CH471172;CX164660;DA134013;DA819112;NG_023231;NM_001139441;NM_001139457;NM_001256447;NM_005745;U36341;U52111;X81109;Z31696 AAA79508;AAH14323;AAH65292;BAD96214;BAD96779;BAG51941;BAG54226;CAA57015;CAA83501;CAL37717;EAW72818;EAW72819;EAW72820;EAW72821;EAW72822;EAW72823;EAW72824;EAW72825;NP_001132913;NP_001132929;NP_001243376;NP_005736;P51572 Hs.522817 1336247;1683058;1702226;1702456;1744517;1744549;1744551;2126093;2147947;2182925;5016666 D5S651;DXS7418;DXS7452;GDB:511618;GDB:523970;GDB:524010;RH70615;RH71460;RH77716;RH79936;UniSTS:99200 6C6-AG;BAP31;CDM;DXS1357E 6C6-AG tumor-associated antigen;B-cell receptor-associated protein 31;BCR-associated protein Bap31;OTTHUMP00000025977;OTTHUMP00000025978;OTTHUMP00000025979;OTTHUMP00000025980;OTTHUMP00000025981;OTTHUMP00000025983;p28 Bap31 APPROVED protein-coding ENSG00000185825 16695 02319 300398 REVIEWED 734116 BCAR1 breast cancer anti-estrogen resistance 1 BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009] 16 16 q23.1 73820429 73843004 - 75262928 75301951 - 1579979;734988;6480464;6484113 11605729;9697697 9020138;9472046;10026197;16245368;9285683;10092204;9295052;10675905;10639512;11607844;19357231;19331827;19330798;19329671;19086031;19029090;18842495;18725541;18321991;18164686;18095869;18078823;17982677;17616674;17251438;17129785;17081983;17038317;16964243;16644720;16597701;16440329;16212419;16040804;15951569;15923424;15784259;15592455;15448007;15121874;14702039;12972425;12738793;12615911;9748234;10339567;10587647;11782456;14688263;16105984;8070403;8649368;12601080;12529399;12477932;12397603;12135674;11820787;11779709;11593413;11577104;11514617;11493697;11278335;11158326;11146654;11113628;11071869;10822386;10801330;10799562;10787408;10753828;10739664;10712510;10639513;10187783;10093970;9697683;9621077;9581808;9425168;9360983;9188452;8995252;8940134;8887669;8700507;8413311;8810278;8649427;9498705;16600665;18477472;22892392;8683103;22476538;15492270;14657239;11369773;10329689;10085298;9920935;7780740;8999909;10692442;12819203;12446789;12517963;10487518;12714323;9748319;11432831;10502414;11036077;16169070;15778465;9366405;8668148;15728191;9148935;10208419;10320483;11181995;12119061;12618476;15020686;15588985;15866871;16020549;16099422;16344560;16413489;16581250;17474147;19412734;19822523;19844255;19940159;7479864;8889548;8978305;9360968;9759889;21291860;16267043;20688056;19732724;21245381;21047529;23042269;20961652;21765937;22863883;22974441;21952639;21957230;15673687;21630091;22081014;23152477;10747099;11032817;21306301;21855630;22558353;21890473;22144090;22431919;22106368;21937722;22084245;22395610;17979178;23000965;23239970;22241677;23457408;11278916;11839772;12893833;18835194;19380743;22711540 9564 B2RBL9;B3KWE2;F5GXA2;F5H855;H3BN62;H3BP62;H3BQJ7;H3BSB2;H3BSY4;H3BTB0;H3BTL5;H3BU42;H3BVF0 AB040024;ABBA01058126;ABBA01058127;AC009078;AF218451;AJ242987;AK026121;AK027608;AK074958;AK124526;AK124815;AK124844;AK125719;AK127004;AK293808;AK294513;AK295809;AK302617;AK314722;AMYH01007819;AMYH01007820;AY545071;BC014402;BC062556;BU730553;CH471114;DA418642;DC310094;DC317947;NM_001170714;NM_001170715;NM_001170716;NM_001170717;NM_001170718;NM_001170719;NM_001170720;NM_001170721;NM_014567 AAF27527;AAH14402;AAH62556;AAS48631;ACE86415;ACE87091;BAA92711;BAB55230;BAC11315;BAG37266;BAG54047;BAG54099;BAG54104;BAG54238;BAG57215;BAG57726;BAG58627;BAH13763;CAB75875;EAW95651;EAW95652;EAW95653;EAW95654;EAW95655;EAW95656;NP_001164185;NP_001164186;NP_001164187;NP_001164188;NP_001164189;NP_001164190;NP_001164191;NP_001164192;NP_055382;P56945 Hs.479747 1341608;1712074;1720329;1766915;1795416 BCAR1_714;D16S3051;G54085;RH123913;SHGC-152387 CAS;CAS1;CASS1;CRKAS;FLJ12176;FLJ45059;P130Cas Cas scaffolding protein family member 1;Crk-associated substrate p130Cas;OTTHUMP00000174941;OTTHUMP00000174942;breast cancer anti-estrogen resistance protein 1;v-crk-associated tyrosine kinase substrate APPROVED protein-coding ENSG00000050820 971 04248 602941 VALIDATED 1323276 BCAR3 breast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 p22.1 93799936 93919973 - 94027343 94312706 - 1580863;6480464 17353931;9582273;18722344;17616674;17427198;17270363;17081983;16964243;16710414;15671247;15642172;15489334;14702039;12975309;12517963;12477932;10187783;9436634;8880875;19913121;20628086;19454314;19940159;21832049;15146197;16344560;21262352;22711540 8412 B3KNL6;B3KP06;O75815 ABBA01045519;ABBA01045520;ABBA01045521;ABBA01045522;ABBA01045523;AF124250;AK027785;AK055442;AK301570;AK310970;AL049796;AL109613;AL359820;AL512488;AL833121;AMYH01000802;AMYH01000803;AMYH01000804;AMYH01000805;AY358996;BC028477;BC039895;BQ015705;CH471097;CN337133;DA057195;DA745974;NM_001261408;NM_001261409;NM_001261410;NM_003567;U92715 AAC39777;AAD28245;AAH39895;AAQ89355;ACE87803;ACT64456;BAG51378;BAG51518;BAG63064;EAW73065;EAW73066;EAW73067;EAW73068;NP_001248337;NP_001248338;NP_001248339;NP_003558;O75815 Hs.36958 1651149;1657995;1665824;1670638;1757223;1778402;1849766;1849768;1853598;1854370;2115094;2130441;2155675 A001Z29;AL009351;G19821;RH11826;RH18230;RH64611;SHGC-144640;SHGC-33752;SHGC-75137;SHGC-75138;SHGC-75160;SHGC-75163;WI-18126 KIAA0554;NSP2;SH2D3B OTTHUMP00000011959;OTTHUMP00000011960;OTTHUMP00000011961;OTTHUMP00000011962;SH2 domain-containing protein 3B;breast cancer anti-estrogen resistance protein 3;breast cancer antiestrogen resistance 3 protein;dJ1033H22.2 (breast cancer anti-estrogen resistance 3);novel SH2-containing protein 2 APPROVED protein-coding ENSG00000137936 973 05268 604704 REVIEWED 1351231 BCAS1 breast carcinoma amplified sequence 1 This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49264729 49391950 - 51993924 52120490 - 52560079 52687304 - 6480464 17353931;15583422;15489334;14567997;12477932;11780052;11148209;10857754;9671742;8758909;8125298;20889312;20379614 8537 B4DFL4;B4E2C4;G3XAF7;H0Y542;H7C1E7;O75363 ABBA01052869;ABBA01052870;AC004501;AC005220;AF041260;AK225656;AK294135;AK294150;AK295318;AK304213;AK308384;AK311215;AK315220;AK316038;AL354801;AMYH01011995;AMYH01011996;BC024044;BC126346;BC126348;CH471077;CR749643;NM_003657 AAC39896;AAH24044;AAI26347;AAI26349;ADR83077;ADR83308;BAG37652;BAG57463;BAG57475;BAG58295;BAG65086;BAH14409;CAH18437;EAW75574;EAW75575;EAW75576;NP_003648;O75363 Hs.400556 1334718;1645838;1665329;1667221;1854203;2121816;2122549;2137350;2137352;2140881 A004M22;AL022246;D20S1085;D20S720;D6S1155E;RH47737;RH78040;STS-Z41321;Z94303;Z94440 AIBC1;NABC1 OTTHUMP00000031313;OTTHUMP00000165942;OTTHUMP00000165943;amplified and overexpressed in breast cancer;breast carcinoma-amplified sequence 1;novel amplified in breast cancer 1 APPROVED protein-coding ENSG00000064787 974 04273 602968 REVIEWED 1315129 BCAS2 breast carcinoma amplified sequence 2 1 1 1 p13.2 113339412 113353499 - 114911701 114925788 - 115110178 115124265 - 1580863;6480464;6907045 21145461;9731529;17353931;12169396;16710414;15694360;15489334;12477932;12429849;12406557;10403562;8125298;11101529;19903847;16159877;22939629;23084401;23314748;17332742;21628590;20360068;21139048;21906983;20176811;21536736 10286 B2R7W3;O75934 AB020623;AB451245;AB451369;ABBA01068464;AF081788;AK222637;AK313141;AL390241;AMYH01000966;BC005285;BC012623;BC022880;BC039238;BF184377;BT019390;CH471122;CQ831058;CR542037;NM_005872 AAC64059;AAH05285;AAH12623;AAH22880;AAV38197;ABM83455;ABW03501;ACE87016;ACE87704;BAA34863;BAD96357;BAG35960;BAG70059;BAG70183;CAG46834;CAH05197;EAW56602;EAW56603;EAW56604;NP_005863;O75934 Hs.22960 1739815;2170546;2190561 D1S2509E;EST28B4;SHGC-36835 DAM1;SPF27;Snt309 DNA amplified in mammary carcinoma 1 protein;OTTHUMP00000013668;breast carcinoma-amplified sequence 2;pre-mRNA-splicing factor SPF27;spliceosome associated protein, amplified in breast cancer;spliceosome-associated protein SPF 27 protein-coding ENSG00000116752 975 05777 605783 VALIDATED 1319844 BCAS3 breast carcinoma amplified sequence 3 17 17 17 q23 57855963 58571253 + 56109954 56824981 + 58755172 59470199 + 1580863;2317828;6480464 16855396 18391951;18030336;17505058;16617102;16344560;15489334;14702039;12477932;12378525;8125298;22797727;20548946;20546612;20383146;21742584;21906983;22610502;23251661;23263486;23535033 54828 K7EIE2;K7EIR7;K7EJH7;K7EJU7;K7EKB0;K7ELH0;K7EML5;K7EQA6;K7ESE9;Q05D99;Q9BVF0 ABBA01035385;ABBA01035386;ABBA01035387;ABBA01035388;ABBA01035389;ABBA01035390;ABBA01035391;ABBA01035392;ABBA01035393;ABBA01035394;ABBA01035395;ABBA01035396;ABBA01035397;ABBA01035398;ABBA01035399;ABBA01035400;ABBA01035401;AC005746;AC005856;AC005884;AC015876;AC079005;AC110602;AF260268;AF361219;AJ511332;AJ518105;AJ518836;AK000135;AK022526;AK023054;AK025510;AK225757;AK304791;AK314744;AL831895;AMYH01008531;AMYH01008532;BC001250;BC013841;BC017390;BC029983;BC033220;BC036280;BC117275;BC143386;BC143387;BX648103;CA444316;CH471179;DA188234;DA789232;NM_001099432;NM_017679 AAF70324;AAH01250;AAH17390;AAI17276;AAI43387;AAI43388;AAL99632;BAA90966;BAB14078;BAB14380;BAB15156;BAG37284;BAG65541;CAD38568;CAD54076;CAD57723;CAD57724;EAW51410;EAW51411;EAW51412;EAW51413;EAW51414;EAW51415;EAW51416;NP_001092902;NP_060149;Q9H6U6 Hs.655028 1335941;1654952;1662022;1675734;1681046;1698070;1718409;1729851;1778005;1794386;1794388;1794392;1794394;2116860;2147771;2149297;2164941;2165830;2173837;2176565;2190839;5020843;5120227;5120917;7186314 A008N15;AFMa348zg1;D17S1838;D17S603;D17S688;FCA082;GDB:213539;PMC311067P2;PMC311067P3;PMC311067P5;PMC311067P6;RH102567;RH11846;RH122979;RH45637;RH46138;RH77934;RH78352;RH79698;RH99142;SHGC-36265;STS-N93418;STS-T62860;WI-18428 DKFZp686O1527;FLJ20128;GAOB1;MAAB;MGC4973 BCAS4/BCAS3 fusion;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 3;metastasis associated antigen of breast cancer;protein Maab1 protein-coding ENSG00000141376 14347 06313 607470 VALIDATED 1343415 BCGF1 B-cell growth factor 1, 12kDa 1580863 7698329 588 P20931 981 6766505 BCDIN3D-AS1 BCDIN3D antisense RNA 1 12 q13.13 50222326 50234937 + 14702039;16344560;16712791 100286844 ABBA01031537;ABBA01031538;AC131157;AI193197;AK055142;AMYH01004447;BC014925;CB153643;DA122615;NR_027499;NR_027500;NR_027501 Hs.656019 1683128;2117456 RH79782;SHGC-17415 APPROVED miscrna ENSG00000258057 44113 VALIDATED 1352594 BCAS4 breast carcinoma amplified sequence 4 20 20 20 q13.13 46115734 46197974 + 48844874 48927121 + 49411467 49493714 + 6480464 15489334;15342556;14702039;12477932;12378525;11780052;21906983 55653 H7BXG3;H7C018;H7C4Y8;Q8TDL9 ABBA01052786;ABBA01052787;ABBA01052788;ABBA01052789;ABBA01052790;AF361220;AJ511266;AK000502;AL031680;AL133228;AMYH01011975;AMYH01011976;BC038381;BC047337;BC056883;BP212127;CH471077;NM_001010974;NM_017843;NM_198799 AAH38381;AAH47337;AAL99633;BAA91209;CAD53579;EAW75613;EAW75614;NP_001010974;NP_060313;NP_942094;Q8TDM0 Hs.381178 1772685;2149946;2220552 RH65330;SHGC-64933;UniSTS:484435 CNOL;FLJ20495 BCAS4/BCAS3 fusion;OTTHUMP00000031272;OTTHUMP00000031273;OTTHUMP00000031274;OTTHUMP00000215950;breast carcinoma amplified sequence 4/3 fusion protein;breast carcinoma-amplified sequence 4 protein-coding ENSG00000124243 14367 06314 607471 VALIDATED 1345403 BCAT1 branched chain amino-acid transaminase 1, cytosolic This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] 12 12 p12.1 24855545 24993499 - 24962958 25102393 - 67954;631308;1580863;6480464;6907045 9165094;10686349 6933702;8692959;19260141;19119849;18419134;18074675;17846126;17007058;14702039;12477932;10471790;9657861;8889548;7566098;15231748;16141215;20062060;20379614;20339536;19913121;20628086;20639392;20734064;20877624;23043456;22863883;23000965;21139048;21987572;22107788;23400010 586 F5H2F2;P54687 AA376058;ABBA01068010;ABBA01068011;ABBA01068012;ABBA01068013;AC023796;AC026310;AC092867;AF277179;AK024923;AK025615;AK056255;AK128527;AK294879;AK299088;AL390172;AMYH01004335;AMYH01004336;AMYH01004337;BC026006;BC033864;BM458559;BU618839;BU730066;BX474651;BX647122;CH471094;CR749308;DC385021;NG_008170;NM_001178091;NM_001178092;NM_001178093;NM_001178094;NM_005504;U21551 AAB08528;BAB71129;BAG54689;BAH11911;BAH12946;CAH18163;EAW96497;EAW96498;EAW96499;NP_001171562;NP_001171563;NP_001171564;NP_001171565;NP_005495;P54687 Hs.438993 1335547;1649672;1653965;1699414;1722893;2107885;2138464;2140437 BCAT1_8225;D12S1435;D12S1617;D12S1956;G60541;RH103298;RH44650;SHGC-57548 BCATC;BCT1;DKFZp686E12175;ECA39;MECA39;PNAS-121;PNAS121;PP18 OTTHUMP00000240002;OTTHUMP00000240003;OTTHUMP00000240004;OTTHUMP00000240005;OTTHUMP00000240006;branched chain aminotransferase 1, cytosolic;branched-chain-amino-acid aminotransferase, cytosolic;placental protein 18 APPROVED protein-coding ENSG00000060982 976 00216 113520 REVIEWED 1601723 BCDIN3D BCDIN3 domain containing 12 12 12 q13.12 49025845 49032931 - 48517823 48523142 - 50229826 50236912 - 6480464 19079260;12477932;21145461;19557197;20215397;17207965;20712903;20724581;20816195;23063121;21890473;19322201 144233 Q7Z5W3 ABBA01031538;AC131157;AK292194;AMYH01004447;BC040957;BC053560;BU622810;CD690663;CH471111;NM_181708 AAH53560;ADQ32577;BAF84883;EAW58101;NP_859059;Q7Z5W3 Hs.142736 1683128;2117456;5014051;5021872;5022200;5037552 D8S2278;D8S2279;L18426;RH79782;SHGC-17415;sY3084 BCDIN3 domain-containing protein;OTTHUMP00000242155;pre-miRNA 5'-monophosphate methyltransferase;probable methyltransferase BCDIN3D protein-coding 27050 14065 VALIDATED 69002 BCAT2 branched chain amino-acid transaminase 2, mitochondrial This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 19 19 q13 53990131 54006113 - 49298319 49314320 - 67954;1300291;1582175;1580863;1300048;6480464;6907045 9165094;14755340;11733007 17050531;16141215;15489334;15182179;14702039;12686109;12477932;12269802;12119021;11264579;11170829;9665099;9657861;9478945;8125298;6933702;3896163;19119849;8702755;16344560;8889548;20877624;23043456;21832049;21963094;21988832;22107788;21890473;21906983 587 B3KSI3;M0QXF9;M0QZ10;M0QZP4;M0R2K7;O15382 ABBA01032966;AC026803;AF268047;AF268048;AK023909;AK093627;AK223522;AK309428;AK310101;AK310243;AK314548;AMYH01009908;BC001900;BC004243;BE139200;BM802402;BU178552;CA310873;CB049110;CH471177;DA129578;DC395685;HC897076;NG_013003;NM_001164773;NM_001190;NR_028450;NR_028451;U62739;U68418 AAB53087;AAB67672;AAH01900;AAH04243;AAK38368;AAK38369;ABM83276;ABM86480;BAD97242;BAG37134;BAG52745;CBN62949;EAW52403;NP_001158245;NP_001181;O15382 Hs.512670 2107887 BCAT2_8226 BCAM;BCATM;BCT2;PP18 branched chain aminotransferase 2, mitochondrial;branched-chain-amino-acid aminotransferase, mitochondrial;placental protein 18 APPROVED protein-coding ENSG00000105552 977 00217 113530 REVIEWED 1351460 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008] 6 6 q14.1 80873083 81112706 + 80816344 81055987 + 1599466;1599467;1580863;6480464;6907045;7240710 2022752;9460082 2365818;11839747;12902323;18378174;17922217;17524396;17329260;16472748;15489334;15166214;12477932;11509994;8651316;8161368;7918575;2335211;1889817;1860867;21145461;19480318;20379614;10745006;20877624;20301495;22593002;23313820;23400010;15576032 594 P21953;Q5T2J3 ABBA01040421;AK289977;AK304353;AK310838;AK316545;AL049696;AL391595;AMYH01016460;BC034481;BC040139;BM553932;BT020063;CH471051;D90391;DB548202;DC372349;M55575;NG_009775;NM_000056;NM_183050;U50708;U51015;U51016;X52446 AAA51812;AAB09779;AAB09780;AAB16763;AAH34481;AAH40139;AAV38866;BAA14389;BAF82666;BAG65195;BAH14916;CAA36685;EAW48696;EAW48697;EAW48698;NP_000047;NP_898871;P21953 Hs.654441 1664805;1671199;1698358;1754149;1777514;2115069;2118994;2127678;5015404;5020740;5022651;5024413;5037552;5092670;5122325;7190931;7190935 A005P24;D11S2921;D6S1762;D6S1856;D6S1866;D8S2279;G32255;L17705;L17809;L17877;RH102720;RH15773;RH46797;SHGC-132178;SHGC-36275 E1B;FLJ17880;dJ279A18.1 2-oxoisovalerate dehydrogenase beta subunit;2-oxoisovalerate dehydrogenase subunit beta, mitochondrial;BCKDE1B;BCKDH E1-beta;E1b-beta subunit of the branched-chain complex;OTTHUMP00000018048;OTTHUMP00000018049;branched chain alpha-ketoacid dehydrogenase E1-beta subunit;branched-chain alpha-keto acid dehydrogenase E1 component beta chain APPROVED protein-coding ENSG00000083123 987 02011 248600;248611 REVIEWED 732174 BCHE butyrylcholinesterase Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008] 3 3 q26.1-q26.2 166973386 167037947 - 165490692 165555253 - 1599458;1331525;734636;1601328;1599454;1580863;1601317;1601321;1601322;1601335;2306780;2306781;2306778;2306779;2306782;2306783;2306776;2306777;5687326;5688055;5687325;5687328;5687327;5687690;5688056;5688128;5688132;5688134;5688133;5688130;6480464;5688127;7240710 16187484;15118671;2915989;9694584;16442260;15907830;15219807;12387587;8149699;16442234;12379509;17275003;17026497;11793025;11478742;17917325;17852836;22123563;17657467;22157615;20138875;22012848;20122907;16973370;21921108;12383920;21771623;7634486;21303225;2953866 18555211;18550040;18422653;18334913;18322399;18300943;18290843;18237553;18165570;18076380;18075469;17996334;17923322;17768338;17701416;17700357;17698511;17690023;17660298;17503475;17410321;17350607;17335779;17192624;17116317;16962996;16909200;16824336;16801396;16788378;16731619;16504521;16429499;16344560;16335952;16298355;16289064;16288482;16278840;16213467;16105444;16020944;18778798;18640242;15834019;15802910;15781196;15731585;15696543;15690550;15519745;15489334;15465921;15449725;15386241;15258737;15111428;15060281;14760718;14735258;14686935;14622273;12901493;12881446;12869558;12811800;12724618;12687586;12668920;12477932;12417112;12387584;12130740;12074828;12044901;12009429;12003252;11856351;11856322;11849755;11848688;11749053;11738493;11725818;11436125;11125748;10529218;9673783;9543549;8680411;8063698;3542989;3477799;3115973;3067729;3035536;2339692;2322535;1769658;1769657;8930175;11569538;8622553;14718574;19217865;19156168;19056482;19019080;19010318;19006190;18780301;20538374;20886866;20677742;21029050;20879632;20356562;20399202;17318303;18457821;19383604;19452557;19481150;19578796;19617863;19685167;19956635;20056567;20058037;20143968;20193849;20308990;20379614;19474452;20883446;20445134;19913121;20529763;20628086;20644562;21454498;23092211;21530486;21402063;21493754;19713000;22040426;21473860;21547979;20807286;21576115;22901043;22750491;22294139;21943158;21862451;22331678;23508960;22917637;22922115;22935510;23000450;23022600;23044488;23063927;23123771;23419831;22560633;2318303 590 F8WEX7;F8WF14;H0Y885;H7C4Y0;P06276;Q96HL2 ABBA01058744;ABBA01058745;AC009811;AK292063;AMYH01013633;BC008396;BC018141;BF056152;CH471052;DA426203;M16474;M16541;M32391;NG_009031;NM_000055 AAA52015;AAA98113;AAA99296;AAH08396;AAH18141;ABM81967;ABM85146;BAF84752;EAW78591;EAW78592;EAW78593;EAW78594;NP_000046;P06276 Hs.420483 1740979;1741075;1741077;1743635;1743637;1744891;1744893;1744895;1744897;1745731;1745733;1746115;1751331;1858313;2106443;2113732;2175496;2176253 BCHE;BCHE_4440;D3S3886;G64459;GDB:177095;GDB:177651;GDB:177652;GDB:363550;GDB:363553;GDB:580568;GDB:580574;GDB:580578;GDB:580581;GDB:632859;GDB:632866;SHGC-105146;STS-M16541;WI-18944 CHE1;CHE2;E1 OTTHUMP00000212636;acylcholine acylhydrolase;butyrylcholine esterase;choline esterase II;cholinesterase;cholinesterase (serum) 2;cholinesterase 1;pseudocholinesterase APPROVED protein-coding ENSG00000114200 983 01519 177400 REVIEWED 734102 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 q13.1-q13.2 46595544 46622750 + 41903694 41930910 + 1599467;734637;737779;1580863;6480464;6907045;7240710 9460082;1943689;8037208 3224821;7883996;11839747;19480318;19456321;18378174;17922217;17353931;17081983;15489334;15322287;12902323;12812918;12477932;10745006;9582350;8889548;8161368;7918575;3379058;2914958;2805821;2703538;2241958;2060625;1889817;1885764;1867199;1861457;1682165;1420356;1356170;19715473;20136525;15166214;20877624;20301495;22593002;19085071;21844576;21145461;22956686;15576032 593 B4DP47;F5GXU9;F5H5P2;H0YH20;H0YH31;P12694;Q59EI3 AB209828;ABBA01040807;ABBA01040808;AC011462;AK298188;AK313300;AL833143;AMYH01009819;AMYH01009820;BC007878;BC008933;BC023983;BE223026;BG742673;BI910860;BM702667;BQ018849;CH471126;J04474;M22221;NG_013004;NM_000709;NM_001164783;S38309;Z14093 AAA35590;AAB19267;AAB59549;AAH07878;AAH08933;AAH23983;BAD93065;BAG36106;BAG60459;CAA78475;CAH56215;EAW57039;EAW57040;NP_000700;NP_001158255;P12694 Hs.433307 1743925;1743927;1743929;1854126;2107889;2116901;2136320;2142506;2142508;2156652;2172606;5017657;5092382;5120840;5491671 A005U20;A007H11;BCKDHA;BCKDHA_8227;G20507;G54154;GDB:375700;GDB:375706;GDB:375709;GDB:375712;IB1022;MARC_7273-7274:996687712:3;RH35849;SHGC-12313;SHGC-24398 BCKDE1A;FLJ45695;MSU;MSUD1;OVD1A 2-oxoisovalerate dehydrogenase (lipoamide);2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial;BCKDH E1-alpha;OTTHUMP00000238014;OTTHUMP00000238015;OTTHUMP00000238024;OTTHUMP00000238025;branched-chain alpha-keto acid dehydrogenase E1 component alpha chain APPROVED protein-coding ENSG00000248098 986 02009 248600;608348 REVIEWED 1316516 BCCIP BRCA2 and CDKN1A interacting protein This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 q26.1 127502105 127532080 + 127512104 127542264 + 1580863;6480464 18440304;18950845;18773424;18413737;18299662;17947333;17452982;17353931;17135243;17081983;16341674;16247447;16189514;16169070;15713648;15539944;15489334;15231748;15164054;14726710;14702039;12527204;12477932;11836363;10878006;11754111;11748848;11313963;8889548;1571364;19578363;19653894;19713748;19861517;17620012;23383273;22939629;21900206;21139048;21890473;21906983;17627904;22318606;22863883;22990118 56647 B4E318;Q9P287 AA806484;AB040450;AB040451;ABBA01034170;ABBA01034171;AK055691;AK092054;AK300767;AK304529;AL360176;AL834458;AMYH01003163;AY064247;AY064248;AY064249;AY092061;BC009771;BM741863;BM905542;BM974496;BQ008485;CH471066;NG_029095;NM_016567;NM_078468;NM_078469 AAH09771;AAL55436;AAL55438;AAL55439;AAL55440;BAA92927;BAA92928;BAG51557;BAG62432;BAG65330;CAD39118;EAW49218;EAW49219;EAW49220;NP_057651;NP_510868;NP_510869;Q9P287 Hs.370292;Hs.715543 1656255;1683211;1736142;1789090;2145466;2161201;2172859;2184295;2186394;5491958;7185551 A004G05;D10S1398E;DHX32;G65680;RH44594;RH98320;SGC34496;SHGC-33832;STS-AA036771;WI-11581 TOK-1;TOK1 BCCIPalpha;BCCIPbeta;BRCA2 and CDKN1A-interacting protein;BRCA2 and Cip1/p21 interacting protein;OTTHUMP00000020714;OTTHUMP00000020715;OTTHUMP00000020716;TOK-1alpha;TOK-1beta;cdk inhibitor p21 binding protein;p21- and CDK-associated protein 1;protein TOK-1 APPROVED protein-coding ENSG00000107949 978 16542 611883 REVIEWED 1322422 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 14 14 q32.2 98705377 98807575 - 99635624 99737822 - 1580863;6480464 22245141;19399189;18768194;18595722;17369851;17308084;17245431;16950772;16091750;15668700;15325104;15104287;12930829;12692243;12565905;12196208;11719382;10744719;19366371;19581932;16809611;19454010;20824091;15849318;21080944;22450536;21060114;21878675;22068335;22318606;23168072;23383087;23752268;22969067;23040356;23022380;22067449;22077140;22505724;22700985 64919 D3YTK1;L8B567;L8B7P7;Q9C0K0 AB041218;AB043584;AB057668;AB057669;AB057670;ABBA01048566;ABBA01048567;AF086271;AJ404614;AL109767;AL162151;AL359681;AMYH01005988;AMYH01005989;CH471061;FB736423;NG_027894;NM_022898;NM_138576 AAI56140;BAB32731;BAM78282;BAM78283;BAM78284;BAM78285;CAC17726;CAX20397;EAW81662;EAW81663;NP_075049;NP_612808;Q9C0K0 Hs.709690 1659376;1698748;1751467;1763487;1764387;1799512;1799960;1800000;1800126;1800776;1801104;1801556;1801612;1801678;1802338;1802582;1802648;1802762;1802828;1802884;1802886;1803170;1803228;1803230;1803350;1803380;1803382;1803434;1803682;1803858;1804170;1804172;1804372;1804658;1804742;1805150;1805562;1805638;1807402;1808074;1808482;1809526;1809812;1809938;1809986;1810386;1810388;1810390;1810588;1810658;1810734;1810818;1810892;1810894;1811494;1811670;1812142;1812416;1812694;1812696;1813272;1813274;1813276;1813636;1813704;1814026;1814398;1814970;1815588;1816168;1817348;1817350;1818128;1818776;1819044;1819154;1819296;1819428;1819690;1819766;1820182;1820450;1821108;1821242;1821244;1823222;1823224;1823298;1823382;1823558;1823730;1823852;1824536;1824852;1824924;1825096;1825406;1826034;1826472;1826474;1826740;1826834;1827360;1827442;1827628;1827850;1828412;1828574;1830724;1830822;1831846;1833566;1834242;1835014;1835296;1835332;1835512;1837060;1837380;1837890;1837982;1838560;1838662;1838792;1839130;1839886;1840130;1840760;1840762;1841126;1841730;1842166;1843186;1844124;1844126;1845248;1953650;1953652;1953654;1953656;1953658;1953660;1953662;1953664;1953666;1953668;1953670;1953672;1953674;1953676;1953678;1953680;1953682;1953684;1953686;1953688;1953690;1953692;1953694;1953696;1953698;1953700;1953702;1953704;1953706;1953708;1953710;1953712;1953714;1953716;1953718;1953720;1953722;1953724;1953726;1953728;1953730;1953732;1953734;1953736;1953738;1953740;1953742;1953744;1953746;1953748;1953750;1953752;1953754;1953756;1953758;1953760;1953762;1953764;1953766;1953768;1953770;1953772;1953774;1953776;1953778;1953780;1953782;1953784;1953786;1953788;1953790;1953792;1953794;1953796;1953798;1953800;1953802;1953804;1953806;1953808;1953810;1953812;1953814;1953816;1953818;1953820;1953822;1953824;1953826;1953828;1953830;1953832;1953834;1953836;1953838;1953840;1953842;1953844;1953846;1953848;1953850;1953852;1953854;1953856;1953858;1953860;1953862;1953864;1953866;1953868;1953870;1953872;1953874;1953876;1953878;1953880;1953882;1953884;1953886;1953888;1953890;1953892;1953894;1953896;1953898;1953900;1953902;1953904;1953906;1953908;1953910;1953912;1953914;1953916;1953918;1953920;1953922;1953924;1953926;1953928;1953930;1953932;1953934;1953936;1953938;1953940;1953942;1953944;1953946;1953948;1953950;1953952;1953954;1953956;1953958;1953960;1953962;1953964;1953966;1953968;1953970;1953972;1953974;1953976;1953978;1953980;1953982;1953984;1953986;1953988;1953990;1953992;1953994;1953996;1953998;1954000;1954002;1954004;1954006;1954008;1954010;1954012;1954014;1954016;1954018;1954020;1954022;1954024;1954026;1954028;1954030;1954032;1954034;1954036;1954038;1954040;1954042;1954044;1954046;1954048;1954050;1954052;1954054;1954056;1954058;1954060;1954062;1954064;1954066;1954068;1954070;1954072;1954074;1954076;1954078;1954080;1954082;1954084;1954086;1954088;1954090;1954092;1954094;1954096;1954098;1954100;1954102;1954104;1954106;1954108;1954110;1954112;1954114;1954116;1954118;1954120;1954122;1954124;1954126;1954128;1954130;1954132;1954134;1954136;1954138;1954140;1954142;1954144;1954146;1954148;1954150;1954152;1954154;1954156;1954158;1954160;1954162;1954164;1954166;1954168;1954170;1954172;1954174;1954176;1954178;1954180;1954182;1954184;1954186;1954188;1954190;1954192;1954194;1954196;1954198;1954200;1954202;1954204;1954206;1954208;1954210;1954212;1954214;1954216;1954218;1954220;1954222;1954224;1954226;1954228;1954230;1954232;1954234;1954236;1954238;1954240;1954242;1954244;1954246;1954248;1954250;1954252;1954254;1954256;1954258;1954260;1954262;1954264;1954266;1954268;1954270;1954272;1954274;1954276;1954278;1954280;1954282;1954284;1954286;1954288;1954290;1954292;1954294;1954296;1954298;1954300;1954302;1954304;1954306;1954308;1954310;1954312;1954314;1954316;1954318;1954320;1954322;1954324;1954326;1954328;1954330;1954332;1954334;1954336;1954338;1954340;1954342;1954344;1954346;1954348;1954350;1954352;1954354;1954356;1954358;1954360;1954362;1954364;1954366;1954368;1954370;1954372;1954374;1954376;1954378;1954380;1954382;1954384;1954386;1954388;1954390;1954392;1954394;1954396;1954398;1954400;1954402;1954404;1954406;1954408;1954410;1954412;1954414;1954416;1954418;1954420;1954422;1954424;1954426;1954428;1954430;1954432;1954434;1954436;1954438;1954440;1954442;1954444;1954446;1954448;1954450;1954452;1954454;1954456;1954458;1954460;1954462;1954464;1954466;1954468;1954470;1954472;1954474;1954476;1954478;1954480;1954482;1954484;1954486;1954488;1954490;1954492;1954494;1954496;1954498;1954500;1954502;1954504;1954506;1954508;1954510;1954512;1954514;1954516;1954518;1954520;1954522;1954524;1954526;1954528;1954530;1954532;1954534;1954536;1954538;1954540;1954542;1954544;1954546;1954548;1954550;1954552;1954554;1954556;1954558;1954560;1954562;1954564;1954566;1954568;2108707;2144356;2212280;2212282;2212284;2212286;2212288;2212290;2212292;2212294;2212296;2212298;2212300;2212302;2212304;2212306;2212308;2212310;2212312;2212314;2212316;2212318;2212320;2212322;2212324;2212326;2212328;2212330;2212332;2212334;2212336;2212338;2212340;2212342;2212344;2212346;2212348;2212350;2212352;2212354;2212356;2212358;2212360;2212362;2212364;2212366;2212368;2212370;2212372;2212374;2212376;2212378;2212380;2212382;2212384;2212386;2212388;2212390;2212392;2212394;2212396;2212398;2212400;2212402;2212404;2212406;2212408;2212410;2212412;2212414;2212416;2212418;2212420;2212422;2212424;2212426;2212428;2212430;2212432;2212434;5096437 BCL11B_101.2;ECD00608;ECD00834;ECD00854;ECD00919;ECD01250;ECD01421;ECD01656;ECD01684;ECD01718;ECD02053;ECD02178;ECD02211;ECD02268;ECD02302;ECD02331;ECD02332;ECD02476;ECD02507;ECD02508;ECD02572;ECD02587;ECD02588;ECD02614;ECD02747;ECD02841;ECD03005;ECD03006;ECD03110;ECD03261;ECD03303;ECD03518;ECD03729;ECD03769;ECD04672;ECD05015;ECD05223;ECD05755;ECD05898;ECD05961;ECD05985;ECD06185;ECD06186;ECD06187;ECD06287;ECD06323;ECD06362;ECD06407;ECD06444;ECD06445;ECD06747;ECD06839;ECD07076;ECD07215;ECD07358;ECD07359;ECD07656;ECD07657;ECD07658;ECD07841;ECD07875;ECD08040;ECD08228;ECD08516;ECD08831;ECD09124;ECD09724;ECD09725;ECD10120;ECD10452;ECD10588;ECD10644;ECD10715;ECD10781;ECD10912;ECD10953;ECD11165;ECD11300;ECD11631;ECD11698;ECD11699;ECD12700;ECD12701;ECD12738;ECD12781;ECD12870;ECD12957;ECD13018;ECD13366;ECD13525;ECD13561;ECD13649;ECD13810;ECD14126;ECD14350;ECD14351;ECD14484;ECD14532;ECD14795;ECD14837;ECD14934;ECD15048;ECD15332;ECD15414;ECD16498;ECD16547;ECD17061;ECD17926;ECD18269;ECD18658;ECD18803;ECD18821;ECD18912;ECD19694;ECD19857;ECD20115;ECD20162;ECD20454;ECD20505;ECD20575;ECD20744;ECD21126;ECD21249;ECD21571;ECD21572;ECD21757;ECD22064;ECD22286;ECD22801;ECD23275;ECD23276;ECD23841;REN47683;REN47684;REN47685;REN47686;REN47687;REN47688;REN47689;REN47690;REN47691;REN47692;REN47693;REN47694;REN47695;REN47696;REN47697;REN47698;REN47699;REN47700;REN47701;REN47702;REN47703;REN47704;REN47705;REN47706;REN47707;REN47708;REN47709;REN47710;REN47711;REN47712;REN47713;REN47714;REN47715;REN47716;REN47717;REN47718;REN47719;REN47720;REN47721;REN47722;REN47723;REN47724;REN47725;REN47726;REN47727;REN47728;REN47729;REN47730;REN47731;REN47732;REN47733;REN47734;REN47735;REN47736;REN47737;REN47738;REN47739;REN47740;REN47741;REN47742;REN47743;REN47744;REN47745;REN47746;REN47747;REN47748;REN47749;REN47750;REN47751;REN47752;REN47753;REN47754;REN47755;REN47756;REN47757;REN47758;REN47759;REN47760;REN47761;REN47762;REN47763;REN47764;REN47765;REN47766;REN47767;REN47768;REN47769;REN47770;REN47771;REN47772;REN47773;REN47774;REN47775;REN47776;REN47777;REN47778;REN47779;REN47780;REN47781;REN47782;REN47783;REN47784;REN47785;REN47786;REN47787;REN47788;REN47789;REN47790;REN47791;REN47792;REN47793;REN47794;REN47795;REN47796;REN47797;REN47798;REN47799;REN47800;REN47801;REN47802;REN47803;REN47804;REN47805;REN47806;REN47807;REN47808;REN47809;REN47810;REN47811;REN47812;REN47813;REN47814;REN47815;REN47816;REN47817;REN47818;REN47819;REN47820;REN47821;REN47822;REN47823;REN47824;REN47825;REN47826;REN47827;REN47828;REN47829;REN47830;REN47831;REN47832;REN47833;REN47834;REN47835;REN47836;REN47837;REN47838;REN47839;REN47840;REN47841;REN47842;REN47843;REN47844;REN47845;REN47846;REN47847;REN47848;REN47849;REN47850;REN47851;REN47852;REN47853;REN47854;REN47855;REN47856;REN47857;REN47858;REN47859;REN47860;REN47861;REN47862;REN47863;REN47864;REN47865;REN47866;REN47867;REN47868;REN47869;REN47870;REN47871;REN47872;REN47873;REN47874;REN47875;REN47876;REN47877;REN47878;REN47879;REN47880;REN47881;REN47882;REN47883;REN47884;REN47885;REN47886;REN47887;REN47888;REN47889;REN47890;REN47891;REN47892;REN47893;REN47894;REN47895;REN47896;REN47897;REN47898;REN47899;REN47900;REN47901;REN47902;REN47903;REN47904;REN47905;REN47906;REN47907;REN47908;REN47909;REN47910;REN47911;REN47912;REN47913;REN47914;REN47915;REN47916;REN47917;REN47918;REN47919;REN47920;REN47921;REN47922;REN47923;REN47924;REN47925;REN47926;REN47927;REN47928;REN47929;REN47930;REN47931;REN47932;REN47933;REN47934;REN47935;REN47936;REN47937;REN47938;REN47939;REN47940;REN47941;REN47942;REN47943;REN47944;REN47945;REN47946;REN47947;REN47948;REN47949;REN47950;REN47951;REN47952;REN47953;REN47954;REN47955;REN47956;REN47957;REN47958;REN47959;REN47960;REN47961;REN47962;REN47963;REN47964;REN47965;REN47966;REN47967;REN47968;REN47969;REN47970;REN47971;REN47972;REN47973;REN47974;REN47975;REN47976;REN47977;REN47978;REN47979;REN47980;REN47981;REN47982;REN47983;REN47984;REN47985;REN47986;REN47987;REN47988;REN47989;REN47990;REN47991;REN47992;REN47993;REN47994;REN47995;REN47996;REN47997;REN47998;REN47999;REN48000;REN48001;REN48002;REN48003;REN48004;REN48005;REN48006;REN48007;REN48008;REN48009;REN48010;REN48011;REN48012;REN48013;REN48014;REN48015;REN48016;REN48017;REN48018;REN48019;REN48020;REN48021;REN48022;REN48023;REN48024;REN48025;REN48026;REN48027;REN48028;REN48029;REN48030;REN48031;REN48032;REN48033;REN48034;REN48035;REN48036;REN48037;REN48038;REN48039;REN48040;REN48041;REN48042;REN48043;REN48044;REN48045;REN48046;REN48047;REN48048;REN48049;REN48050;REN48051;REN48052;REN48053;REN48054;REN48055;REN48056;REN48057;REN48058;REN48059;REN48060;REN48061;REN48062;REN48063;REN48064;REN48065;REN48066;REN48067;REN48068;REN48069;REN48070;REN48071;REN48072;REN48073;REN48074;REN48075;REN48076;REN48077;REN48078;REN48079;REN48080;REN48081;REN48082;REN48083;REN48084;REN48085;REN48086;REN48087;REN48088;REN48089;REN48090;REN48091;REN48092;REN48093;REN48094;REN48095;REN48096;REN48097;REN48098;REN48099;REN48100;REN48101;REN48102;REN48103;REN48104;REN48105;REN48106;REN48107;REN48108;REN48109;REN48110;REN48111;REN48112;REN48113;REN48114;REN48115;REN48116;REN48117;REN48118;REN48119;REN48120;REN48121;REN48122;REN48123;REN48124;REN48125;REN48126;REN48127;REN48128;REN48129;REN48130;REN48131;REN48132;REN48133;REN48134;REN48135;REN48136;REN48137;REN48138;REN48139;REN48140;REN48141;REN48142;RH102937;RH66257;SHGC-105284;SHGC-147186;SHGC-147980;SHGC-57955;WI-19381;stSG632077;stSG632078;stSG632079;stSG632080;stSG632083;stSG632084;stSG632085;stSG632086;stSG632087;stSG632088;stSG632089;stSG632090;stSG632091;stSG632092;stSG632093;stSG632094;stSG632095;stSG632096;stSG632097;stSG632098;stSG632099;stSG632100;stSG632101;stSG632102;stSG632103;stSG632104;stSG632105;stSG632106;stSG632107;stSG632108;stSG632109;stSG632110;stSG632111;stSG632112;stSG632114;stSG632115;stSG632116;stSG632117;stSG632118;stSG632119;stSG632120;stSG632121;stSG632122;stSG632123;stSG632124;stSG632125;stSG632126;stSG632127;stSG632128;stSG632129;stSG632130;stSG632131;stSG632132;stSG632133;stSG632134;stSG632135;stSG632136;stSG632137;stSG632138;stSG632139;stSG632140;stSG632141;stSG632142;stSG632143;stSG632145;stSG632146;stSG632147;stSG632148;stSG632149;stSG632150;stSG632151;stSG632152;stSG632153;stSG632154;stSG632156;stSG632158;stSG632161;stSG632163 ATL1-alpha;ATL1-beta;ATL1-delta;ATL1-gamma;CTIP-2;CTIP2;RIT1;ZNF856B;hRIT1-alpha ATL1-alpha zinc finger protein;ATL1-beta zinc finger protein;ATL1-delta zinc finger protein;ATL1-gamma zinc finger protein;B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein;B-cell lymphoma/leukaemia 11B;B-cell lymphoma/leukemia 11B;BCL-11B;BCL11B/TRDC fusion;COUP-TF-interacting protein 2;OTTHUMP00000067186;OTTHUMP00000067187;hRit1;radiation-induced tumor suppressor gene 1 protein;zinc finger protein hRit1 alpha APPROVED protein-coding ENSG00000127152 13222 05950 606558 REVIEWED 1347575 BCL10 B-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. [provided by RefSeq, Jul 2008] 1 1 p22 85504047 85516171 - 85731459 85742587 - 1580863;6480464;6484113;6907045;7240710 11836626;11472070;16280327;15125833;11053425;15207693;15082780;16395405;16831874;10400625;16647297;15878976;11163238;12761501;14695475;17095757;12154360;11021819;11278692;15122200;17468049;16127295;19336552;19309400;19279678;19112107;18949449;18806265;18625728;18349075;18346354;18287044;18252714;18231929;17893875;17540779;17502353;17371994;17213322;17199743;17179215;17101977;17052756;16785131;16775419;16341151;16229939;16186825;16123224;15637807;15489334;15213237;14674990;14638696;14523480;12477932;12017308;11960389;21406399;11830492;11466612;11387339;11356195;11262391;11259443;11113112;11090634;10753917;10380921;10364242;10319863;10187815;10187771;10187770;9989495;8813110;17353931;18307945;19035248;20466000;1040062;16809782;17047224;19444310;19573080;19690445;19709433;19773279;19897484;20237496;16712791;20439115;20695076;21048031;18223652;19593445;16356855;17189706;22818167;17948050;21513986;19815501;21700900;21896478;23153494;22579587;23661444;23690623;20551178;21674474;20164171;22474286;16920630;19322201;17363905;21988832;22547678;22708078;15184390;22564715;17287217;22812606 8915 O95999 ABBA01045640;AF057700;AF082283;AF097732;AF100338;AF105066;AF127386;AF134395;AJ006288;AK291346;AL590113;AMYH01000754;BC053617;BI831624;BX647306;CA420027;CA443148;CB126730;CH471097;EF189176;NG_012216;NM_003921 AAC99767;AAD15800;AAD16428;AAD24918;AAD32597;AAD39147;AAF06894;AAH53617;ABN09569;BAF84035;CAA06955;EAW73208;NP_003912;O95999 Hs.193516 1677436;1795418 BCL10_716;RH98853 CARMEN;CIPER;CLAP;c-E10;mE10 B-cell lymphoma/leukemia 10;CARD containing molecule enhancing NF-kB;CARD-containing apoptotic signaling protein;CARD-containing molecule enhancing NF-kappa-B;CARD-containing proapoptotic protein;CED-3/ICH-1 prodomain homologous E10-like regulator;OTTHUMP00000011647;OTTHUMP00000036080;bcl-10;cCARMEN;caspase-recruiting domain-containing protein;cellular homolog of vCARMEN;cellular-E10;hCLAP;mammalian CARD-containing adapter molecule E10 APPROVED protein-coding ENSG00000142867 989 04625 114500;137245;156240;603517;613024 REVIEWED 69214 BCKDK branched chain ketoacid dehydrogenase kinase The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 16 16 16 p11.2 29173915 29178365 - 31027223 31031422 + 31119662 31124112 + 1580863;6480464 11839747;17353931;15489334;12477932;12023963;8889548;1889817;1377677;19913121;20628086;2403034;20877624;20811636;17000644;21832049;15604093;21890473 10295 A8MY43;H3BNP3;H3BQP2;H3BS02;H3BTL2;H3BUV3;O14874;Q96G95 ABBA01042078;AC135050;AF026548;AK130145;AK294691;AMYH01007504;BC007363;BC009872;BM679327;BX427330;CH471192;CR542093;NG_033011;NM_001122957;NM_001271926;NM_005881 AAB82714;AAH07363;AAH09872;ABM84613;ABM87863;BAG57850;CAG46890;EAW52160;EAW52161;EAW52162;EAW52163;EAW52164;NP_001116429;NP_001258855;NP_005872;O14874 Hs.513520 1679319;1685063;2109081 BCKDK_9086;RH48904;SHGC-61092 BCKDKD;BDK BCKD-kinase;BCKDHKIN;OTTHUMP00000044996;OTTHUMP00000044997;OTTHUMP00000044998;OTTHUMP00000044999;[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial;branched chain alpha-ketoacid dehydrogenase kinase;branched-chain alpha-ketoacid dehydrogenase kinase protein-coding ENSG00000103507 16902 12523 614901;614923 REVIEWED 1353095 BCL2L10 BCL2-like 10 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008] 15 15 q21 50189114 50192264 - 52401822 52404972 - 1580863;2313975;6480464 17322918 18835031;9829980;11278245;9878060;19336552;18483366;18178565;17532299;12720100;12477932;11689480;11593390;11557035;10486928;9488720;19913121;20628086;19255499;19551325;19573080;19773279;20919753;20428828;20855536;21166696;21171085;21077739;21760590;21890473;22233804;22577154;23235460;22498477 10017 H0YMD5;Q9HD36 ABBA01039067;AC023906;AF285092;AF326964;AJ458330;AMYH01006650;BC093826;BC093828;BC104442;BC104443;CH471082;NM_020396 AAG00503;AAH93826;AAH93828;AAI04443;AAI04444;AAK48715;CAD30221;EAW77435;NP_065129;Q9HD36 Hs.283672 2177956;2217066 BCL2L10_3137;STS-R53538 BCL-B;Boo;Diva;MGC129810;MGC129811 OTTHUMP00000162719;anti-apoptotic protein NrH;apoptosis regulator Bcl-B;bcl-2-like protein 10;bcl2-L-10 APPROVED protein-coding 993 06071 606910 REVIEWED 1320527 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p16.1 60531806 60634137 - 60678302 60780633 - 1580863;6480464 22675500;10757802;10744719;9847074;19369625;19153051;19056937;19020323;18948576;18714373;18691915;18681895;18667698;18245381;17767159;17672918;16871282;16704730;15639232;15489334;14702039;12477932;11986957;11830502;11719382;11347906;11161790;21267535;19913121;20628086;21157349;21493818;19616629;19657335;19670153;19696200;19720844;19833888;19862010;20018918;20075150;20183929;20379614;20395365;20472475;20623620;20575024;20578197;20889853;21068433;16091750;20542454;20581827;22258351;21326311;21832049;22271886;16147992;21890473;21864053;22113416;22012869;22318606;23209159;23752268;21988832;22094256;22739175;23094636;23438597;22505724;22936743;23576758;23222517;23406172;23223429 53335 B4DT16;D6W5D9;D9YZV9;F5H2Y4;Q9NWA7 AB058712;ABBA01075329;ABBA01075330;ABBA01075331;ABBA01075332;AC007381;AC009970;AF080216;AJ404611;AJ404612;AJ404613;AK001035;AK055251;AK092316;AK297507;AK300012;AMYH01010379;AY228763;AY692278;BC021098;BG393787;CH471053;GU324936;GU324937;JN852960;NG_011968;NM_018014;NM_022893;NM_138559 AAG49025;AAH21098;AAO88272;AAU04557;AAX93205;AAY14784;ABZ92151;ABZ92337;ADL14507;ADL14508;AEV45616;BAB47438;BAG51490;BAG52530;BAG59920;BAG61828;CAC17723;CAC17724;CAC17725;EAX00035;EAX00036;EAX00037;EAX00038;EAX00039;EAX00040;EAX00041;NP_060484;NP_075044;NP_612569;Q9H165 Hs.370549 1334890;1643959;1658750;1664458;1682595;1683978;1719407;1788800;1791157;2187267;2218304 BCL11A_4045;D2S1422;D2S2198;G34992;RH123484;RH138170;RH45041;RH70463;RH80326;RH94052;UniSTS:258468 BCL11A-L;BCL11A-S;BCL11A-XL;BCL11a-M;CTIP1;EVI9;FLJ10173;FLJ34997;HBFQTL5;KIAA1809;ZNF856 B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2;B-cell lymphoma/leukemia 11A;BCL-11A;BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1;C2H2-type zinc finger protein;COUP-TF-interacting protein 1;EVI-9;OTTHUMP00000159788;OTTHUMP00000159789;OTTHUMP00000201250;OTTHUMP00000202083;OTTHUMP00000202084;OTTHUMP00000202085;ecotropic viral integration site 9 homolog;ecotropic viral integration site 9 protein homolog;zinc finger protein 856 APPROVED protein-coding ENSG00000119866 13221 05949 606557 REVIEWED 733985 BCL2A1 BCL2-related protein A1 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q24.3 78040290 78050698 - 80253232 80263643 - 734640;1580863;2313975;6480464 11733571;17322918 22292048;16697956;18835031;8605321;19336552;18812174;18512730;18414982;18206119;18093280;17942758;17726463;17724464;17666431;17121585;16873269;16572199;16551634;16164629;15696550;15694340;15617521;15592513;15501771;15499630;15489334;14981542;14966372;14747545;12771180;12692420;12665576;12477932;11929871;11696595;11483855;11329013;10849436;10753914;10545479;10454539;10430908;10381646;10049353;9670936;9356461;9321477;9050999;8952545;8910286;8589678;8345191;7478596;10198631;21843371;19573080;19759007;19773279;20185581;20353833;9731710;19913121;20628086;20800603;20855536;21167304;22720045;22865454;21832049;21491422;17907802;22745672;22318606;22510878;22615379;23447565;22231730;22553204;23118966;23152563 597 Q16548 ABBA01060616;AC015871;AL110097;AMYH01006846;AY234180;BC016281;BG198875;BG204033;BG216703;BT007103;CD640106;CH471136;CR541937;CR541962;HI574046;NG_029487;NM_001114735;NM_004049;U27467;U29680;Y09397 AAC50288;AAC50438;AAH16281;AAO89009;AAP35767;ABM82035;ABM85216;CAA70566;CAG46735;CAG46760;CBX47512;EAW99129;NP_001108207;NP_004040;Q16548 Hs.227817 1662757;1739593;1768623;1769363;1795076;1853733 D10S1618E;PMC97140P1;RH68628;SHGC-35552;SHGC-64943;STS-U27467 ACC-1;ACC-2;BCL2L5;BFL1;GRS;HBPA1 OTTHUMP00000185566;OTTHUMP00000185567;bcl-2-like protein 5;bcl-2-related protein A1;bcl2-L-5;hematopoietic BCL2-related protein A1;hemopoietic-specific early response protein;protein BFL-1 APPROVED protein-coding ENSG00000140379 991 03034 601056 REVIEWED 733100 BCL2 B-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008] 18 18 q21.3 58941559 59137593 - 60790579 60986613 - 734639;1599473;1599477;1599484;1599491;1300048;1580863;1579984;1579980;1579966;2293020;2293059;2293016;2293015;2314140;2293022;2293026;2290557;2293017;2293013;2293014;2289659;2293072;2293078;2313975;2313998;2311240;2298889;2298896;2292908;2292909;2293019;2293073;2292910;2291908;2293018;2293027;2298890;2298897;1643477;2293021;2293065;1643479;6480464;6484113;6907045;7240710 3287162;16671111;16309543;16289365;15649569;12234300;15632274;16826579;18093155;17908970;18084610;18959742;18441466;18221257;18083315;17850375;18217456;18094410;12628841;17693937;17404573;17322918;18931364;18991018;18561741;18283311;18430249;18427947;17482919;17639989;18342927;18317887;17693084;18202171;18386458;18006758;18047955;12810203;18076646;16962107 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21748337;21850486;21914345;21971866;22038216;22065578;22072615;22139839;22143931;22199279;22219597;22372356;21117871;21463514;21618512;21624464;21682651;21819468;21855110;21901143;21907236;21933893;21989054;22002575;22037714;22138435;22160209;22174832;22194596;22207524;22275372;22275374;22277792;22320961;22464442;22582499;14769789;20890735;21104343;21258880;21988644;22194861;22523079;22562364;22727345;22262057;22322190;22418857;22506026;21597459;22054286;22152474;9488477;22968395;23119114;10597216;12488548;23207618;23341456;23564079;22804688;22990545;23243017;22562824;23417836;23494176;15757646;17363905;19521340;20822926;22848417;22038727;23247143;23261425;23272207;23263985;23421973;9668078;21713707;21868312;22936014;22995373;23138847;23170075;23174100;23283967;23316052;23364242;23511489;23030583;22650021;23152059;23369735;23610963;22414090;22504301;22563025;22121083;22120515;22187149;23038985;23355004;23153525;22933114;22484426;23018213 596 C9JHD5;P10415 ABBA01056209;ABBA01056210;ABBA01056211;ABBA01056212;ABBA01056213;ABBA01056214;AC021803;AC022726;AF401211;AI401297;AMYH01009054;AY220759;BC027258;CH471096;EU287875;FB571387;FB571389;JA362596;M13994;M13995;M14745;NG_009361;NM_000633;NM_000657;S72602;X06487 AAA35591;AAA51813;AAA51814;AAD14111;AAH27258;AAL02169;AAO26045;ABM82396;ABM85580;ABX60202;CAA29778;CAR95111;CAR95112;CCA94580;EAW63136;EAW63137;EAW63138;EAW63139;NP_000624;NP_000648;P10415 Hs.150749 1654828;1656815;1659114;1684750;1704630;1724291;1741705;1742177;1742181;1742183;1742883;1742937;1768581;1775139;1791780;1792102;1792908;1795424;1851618;1853096;2146490 BCL2_50;D18S1264;D18S379;G10613;GDB:182296;GDB:193042;GDB:193086;GDB:193087;GDB:214797;GDB:216623;PMC125347P1;PMC137064P1;PMC16825P1;RH119070;RH47111;RH68699;RH78390;RH91234;SHGC-37391;SHGC-77927;STS-AA007401 Bcl-2;PPP1R50 OTTHUMP00000163680;apoptosis regulator Bcl-2;b-cell leukemia/lymphoma 2;protein phosphatase 1, regulatory subunit 50 APPROVED protein-coding ENSG00000171791 990 01045 151430 REVIEWED 735516 BCL2L1 BCL2-like 1 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. [provided by RefSeq, Jul 2008] 20 20 q11.21 29715922 29774317 - 30252261 30310656 - 1300048;1580863;1579980;1579966;1643478;1643480;1643492;1643477;1643481;1643482;1643483;1643491;1643493;1643525;2292685;1643474;1643476;1643479;1643494;2314140;2313975;2292910;6480464;6484113;6907045 15632274;17675586;16886624;17700647;18047955;16850344;15717629;12025227;17706879;17640403;17224795;17870134;17653717;17311011;16962107;17467744;18959742;17322918;18342927 17492131;15030396;20507983;22403404;16608847;8358789;9843949;9184696;9727492;10195903;10198631;11463392;12667443;19573080;19459857;19336552;19317621;19242522;19219602;19212627;19211554;19199036;19180116;19165861;19049976;19043455;19020723;19008458;18974096;18843207;18820703;18818203;18813778;18806875;18786178;18775810;18768389;18641390;18636124;18609706;18594472;18590823;18580065;18568767;18566606;18543286;18534987;18511705;18494061;18428028;18299329;18285708;18262222;18216295;18196538;18182854;18171672;18079751;18069888;17942397;17927446;17923691;17923112;17893147;17880809;17873279;17699158;17673921;17659302;17657164;17652760;17534896;17525735;17519046;15131699;12011449;22454513;15901672;15837790;15827323;15782132;15770735;15767554;15733859;15725478;15722788;15694358;15694340;15657350;15657349;15653751;15638369;15638362;15625014;15574335;15489334;15477204;15459197;15459189;15385505;15375594;15323553;15292226;15179366;15156398;15124764;15079071;15034060;17439414;17428862;17418785;17404017;17384650;17369848;17311927;17301078;17272823;17237249;17227835;17209561;17110373;16983335;16959370;16928273;16850161;16835272;16815550;16810067;16794010;16790528;16773221;16723699;16684963;16650855;16632475;16603546;16572323;16572289;16492678;16403219;16368107;16253528;16204228;16192647;16151013;16148096;16085058;16085054;16081848;16077903;16052512;16048439;15961228;14764594;14752512;14739602;14735465;14668940;14656879;14656874;14631373;14625274;14573608;14520471;14502257;12969962;12963020;12937123;12855666;12853473;12815463;12810626;12783855;12738789;12721288;12637494;12592339;12579342;12553012;12515824;12510191;12477932;12439925;12387875;12381725;12372300;12244097;12214154;12209955;12204872;12198137;12186923;12161031;12115603;12108390;12079401;12070027;12046686;12000759;11994280;11965035;11964315;11941452;11911810;11883953;11859372;11815602;11801602;11788897;14960327;11742726;11733517;11714801;11696595;11583631;11574549;11494146;11483855;11463391;11437653;11423909;11342619;11283018;11279541;11278245;11206074;11175750;11126360;11060313;11054413;11044452;10949025;10891504;10807576;10802717;10737788;10713718;10679027;10625696;10620799;10467399;10467396;10446169;10365962;10330179;10217402;10075695;10049775;9973195;9765397;9742125;9675101;9660918;9539746;9525867;9488720;9435230;9430630;9393856;9388232;9334338;9326610;9305851;9192670;9153240;9130713;9111042;9020082;8692274;8596636;7834748;7644501;7540278;11739707;11123279;15705582;12137781;11077446;9824152;9389483;14596824;9731710;11832478;10837489;16189514;12901880;15637055;12767928;8929532;14980220;15870695;11780052;11756417;15353804;14963330;9372935;15721256;17911582;15231831;19667065;21256112;21226954;21458670;19713971;11971963;15077116;15292519;15625897;16697956;17046835;17274640;17633465;18088462;18250306;18718060;18835031;19060904;19064571;19220664;19395874;19397698;19439449;19467764;19520842;19530162;19567200;19587033;19634140;19670908;19692168;19723045;19773279;19797069;19820711;19834061;19838163;19878271;19883274;19916559;19917720;19948828;19955567;20045442;20048149;20051518;20090905;20100468;20106970;20178603;20192224;20223826;20308427;20453000;20468060;7650367;9027312;9027313;20213502;20363734;21320495;20580954;20858890;20803149;21080944;19763917;20728382;20347499;20400521;20063052;20203691;20661931;20818434;21033220;15006356;18309324;19475409;20140092;20331635;20581863;20628624;20855536;23091012;20673843;21187157;20554038;21148306;21173168;22197371;22211240;22884477;22240664;22960132;18628207;21292770;21339291;21367852;22732506;21203533;21527247;21424121;19236754;21399876;21533126;21726118;21852238;21952639;21656147;21589877;21396851;23442864;22729867;21659544;21674052;21277008;21856303;17289999;21971866;21639858;21669490;21854985;21840391;21900206;22072718;21863213;21980434;22141411;21887277;22267549;22354970;22393362;22433870;23392805;22213163;21674599;22084435;17803695;21567405;22098591;22127243;22138435;22158966;22515821;22589539;22609401;22160868;22235227;22440396;22464442;22627140;21139048;21890473;21906983;22009326;22099018;22119486;22670675;21988832;22705850;23000965;23243017;22440942;10716992;22617334;23171055;16282323;22892098;23079612;23369735;23562578;12594175;16260615;17457084;18051367;18220834;22522453;22552851;22685558;22898820;22686245;22933114;23028682 598 Q07817;Q5QP56;Q5QP59;Q5TE63;Q5TE64;Q9H1R6 ABBA01019297;ABBA01019298;ABBA01019299;ABBA01019300;ABBA01019301;AK290968;AL117381;AL160175;AMYH01011830;AY263335;AY263336;AY263337;BC019307;BT007208;BX647525;CH471077;CR936637;FB721215;FB725892;HI574024;HI574026;NG_029002;NM_001191;NM_138578;U72398;Z23115;Z23116 AAB17354;AAH19307;AAP22027;AAP22028;AAP22029;AAP35872;ABM84387;ABM87310;BAF83657;CAA80661;CAA80662;CAI56777;CAT03369;CAT03400;CBX47501;CBX47502;EAW76424;EAW76425;EAW76426;EAW76427;EAW76428;EAW76429;NP_001182;NP_612815;Q07817 Hs.516966 1687343;1777427;1793280;1793718;1793856;1794898;1794900;1795054;1795056;1795058;1795420;5016400;5017825;5019401 BCL2L1;BCL2L1_1568;D17S2108;PMC156147P6;PMC20354P5;PMC262691P2;PMC300830P1;PMC84055P1;PMC84055P2;PMC92563P1;PMC92563P2;PMC92563P3;RH25072;Z94537 BCL-XL/S;BCL2L;BCLX;BCLXL;BCLXS;Bcl-X;DKFZp781P2092;PPP1R52;bcl-xL;bcl-xS OTTHUMP00000030550;OTTHUMP00000030551;OTTHUMP00000030552;OTTHUMP00000030553;OTTHUMP00000030555;OTTHUMP00000030556;OTTHUMP00000030557;apoptosis regulator Bcl-X;bcl-2-like protein 1;bcl2-L-1;protein phosphatase 1, regulatory subunit 52 APPROVED protein-coding ENSG00000171552 992 02497 600039 REVIEWED 734299 BCL2L11 BCL2-like 11 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013] 2 2 q13 111594962 111642493 + 111878491 111926022 + 704412;734641;1580863;704413;2314029;6480464 9731710;10576740;12388545;19641503 21130142;19893569;20010785;22245094;19148187;22802411;22071694;22081075;22349704;22645134;10198631;15694340;16282323;16697956;17692808;18420585;18677096;14764673;10381623;12591950;19587239;19573080;19403302;19336552;19332026;19330811;19308286;19305426;19300516;19285955;19150432;19141860;19101511;19100522;19064725;19052714;18981303;18949058;18925930;18812174;18806830;18758461;18715501;18715233;18668139;18651223;18549468;18508762;18413764;18398508;18391004;18354037;18348176;18345036;18251703;18246127;18195012;18182577;18165867;18089817;18064628;18063582;18006817;17927446;17717606;17716672;17698840;17686764;17653091;17637819;17538248;17531220;17525735;17499214;17486061;17289999;17276340;17251431;17218274;17203211;17188240;17158029;17151701;17105963;17074758;17067554;17062728;17051334;16951744;16888645;16810067;16773715;16478725;16476732;16373335;16260615;16183168;16148027;16091744;16051596;16022280;15899862;15843898;15824087;15767553;15731089;15731037;15728578;15711598;15688014;15653751;15509554;15489334;15486195;15459900;15378010;15147734;15146197;15030401;15014070;14996839;14970329;14732682;14681225;14676826;14596824;14555991;14527951;12844146;12818176;12486001;12477932;12198137;12118373;12095614;12019181;11997495;11859372;11734221;11583631;11435715;11301022;11210187;11050388;10837489;9463381;9430630;8929531;8918887;15193260;14561217;15721256;12376548;12787561;14769789;15661735;16213503;19407828;19494111;19541822;19574221;19641506;19737817;19773279;19773546;19805519;19850739;19881544;19914305;20066663;20074640;20082325;20086250;20160166;20206402;20231287;20332261;20348947;20861305;20431602;20841506;20878914;21151127;20404322;21041309;20700448;20819778;20855536;20959405;17207965;20877573;20885957;21148799;21148306;21333317;21247487;21533175;15096481;22905229;23047821;22788963;21339291;21367852;20705940;21481848;21555518;21613222;20237869;21655183;21625639;22160382;21832049;22628193;23012423;21415216;21659544;21937453;21729544;19622586;21673341;21958719;21671007;21808067;21732363;22076535;22318606;21899728;21924351;21984578;21375523;22093624;22131152;22426421;21378313;20697841;21478148;22270368;19622774;22388891;22516966;22572381;22609401;22622039;22742832;21507240;23152504;21988832;22430213;23243017;22391963;23295054;23301543;23382048;23394612;23441183;23500081;23532334;23633923;23648111;23681223;23138847;23152053;23235460;23402819;22895567;22819074;15989957;19050264;20821734;22145099;22762551;11546872 10018 C9J417;E9PAM9;H7BZE5;Q8WYL9 AA854054;AA890664;AB071195;AB071196;AB071197;AB071198;AB071199;AB071200;ABBA01001561;AC096670;AF032457;AF032458;AF086141;AF455755;AI268146;AK027160;AK290377;AK291269;AMYH01010925;AMYH01010926;AMYH01010927;AW629314;AY305714;AY305715;AY305716;AY352518;AY423441;AY423442;AY423443;AY428962;BC033694;CH471237;CN411912;DQ849200;DQ849201;DQ849202;HI179172;NG_029006;NM_001204106;NM_001204107;NM_001204108;NM_001204109;NM_001204110;NM_001204111;NM_001204112;NM_001204113;NM_006538;NM_138621;NM_138622;NM_138623;NM_138624;NM_138625;NM_138626;NM_138627;NM_207002;NM_207003 AAC39593;AAC39594;AAH33694;AAL57868;AAQ62569;AAQ82546;AAQ82547;AAQ99148;AAQ99149;AAQ99150;AAR06908;AAT34900;AAY14797;ABI13589;ABI13590;ABI13591;ADQ31938;BAB78589;BAB78590;BAB78591;BAB78592;BAB78593;BAB78594;BAF83066;BAF83958;CBX53894;EAW50364;EAW50365;EAW50366;EAW50367;EAW50369;EAW50370;EAW50371;EAW50372;EAW50373;EAW50374;NP_001191035;NP_001191036;NP_001191037;NP_001191038;NP_001191039;NP_001191040;NP_001191041;NP_001191042;NP_006529;NP_619527;NP_619528;NP_619529;NP_619530;NP_619531;NP_619532;NP_619533;NP_996885;NP_996886;O43521 Hs.469658;Hs.737004 1340014;1657550;1678523;1686146 D2S1892;RH91369;RH99076;WI-11737 BAM;BIM;BIM-alpha6;BIM-beta6;BIM-beta7;BOD;BimEL;BimL;BimS OTTHUMP00000161927;OTTHUMP00000195502;OTTHUMP00000197013;OTTHUMP00000204243;OTTHUMP00000204246;OTTHUMP00000204247;OTTHUMP00000204248;OTTHUMP00000204249;OTTHUMP00000204250;OTTHUMP00000204251;OTTHUMP00000204252;OTTHUMP00000204253;bcl-2 interacting mediator of cell death;bcl-2 interacting protein Bim;bcl-2-like protein 11;bcl-2-related ovarian death agonist;bcl2-L-11;bcl2-interacting mediator of cell death APPROVED protein-coding ENSG00000153094 994 04828 603827 REVIEWED 1606211 BCL2L12 BCL2-like 12 (proline rich) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a Bcl-2 homology domain 2 (BH2). The function of this gene has not yet been determined. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 q13.3 54860211 54868985 + 50168399 50177173 + 6480464 22664385;22431925;18844453;18669646;17081983;16344560;15493871;15489334;14759258;12783122;12477932;11401436;11283018;19376117;18930135;19913121;20628086;18928586;20855536;19723066;19763795;19903463;21152697;21737576;21906983;21987572;22262180;23292833;21963094;21988832;22728012 83596 M0QZM6;M0R1K0;M0R1Z8;Q9HB09 ABBA01032913;AC011495;AF289220;AMYH01009916;BC007724;BC104004;BC104005;BC104006;CH471177;FJ868798;FJ868799;FJ868800;FJ868801;FJ868802;FJ868803;FJ911906;FJ911907;FJ911908;HM347053;NM_001040668;NM_138639 AAG29495;AAG29496;AAH07724;AAI04005;AAI04006;AAI04007;ACZ28444;ACZ28445;ACZ28448;ACZ28450;ACZ28451;ACZ28452;ADM35972;EAW52514;EAW52515;EAW52516;EAW52517;NP_001035758;NP_619580;Q9HB09 Hs.289052 2115343;2169814;2176202 RH18543;SGC33962;STS-H72005 MGC120313;MGC120314;MGC120315 Bcl-2 related proline-rich protein;bcl-2-like protein 12;bcl-2-related proline-rich protein;bcl2-L-12 APPROVED protein-coding 13787 16543 610837 REVIEWED 1344720 BCL5 B-cell CLL/lymphoma 5 2682663;8400234 603 1000 1603456 BCL2L15 BCL2-like 15 1 1 1 p13.2 112648655 112659386 - 114220959 114231692 - 114419436 114430169 - 6480464 16710414;15961081;15489334;12477932;12700646;16690252;17412810 440603 I6LA81;Q5TBC7 ABBA01068458;AI821052;AK026241;AK289439;AL137856;AMYH01000964;AY265861;AY265862;AY265863;AY265864;BC127719;BC127720;BC132904;BC132906;BX116361;CR749373;NM_001010922 AAI27720;AAI27721;AAP93855;AAP93856;AAP93857;AAP93858;BAF82128;CAH18226;NP_001010922;Q5TBC7 Hs.123106 1685399;5014051;5016700;5022200;5022651;5037552;5117897 D11S2921;D8S2278;D8S2279;GDB:631813;L18426;RH79802;RH98904 Bfk;C1orf178;FLJ22588 OTTHUMP00000013724;OTTHUMP00000213302;bcl-2-like protein 15;bcl2-L-15;pro-apoptotic Bcl-2 protein protein-coding 33624 16920 VALIDATED 5507955 BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 14 q 23775971 23795394 + 12477932;20967262 100529063 G3V2X3 ABBA01061318;ABBA01061319;ABBA01061320;AL049829;AMYH01005603;AMYH01005604;BC011637;NM_001199864 NP_001186793 Hs.707712 1690290;2138799;2191547;5022232 MARC_26170-26171:1030649367:1;RH47139;RH65111;SHGC-57254 BCL2L2-PABPN1 protein;OTTHUMP00000246232;OTTHUMP00000246234 protein-coding 42959 REVIEWED 1603380 BCL2L14 BCL2-like 14 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009] 12 12 p13-p12 12115145 12255214 + 12223878 12252629 + 2315712;6480464 14999772 11054413;18006276;17557568;17280616;16484005;15489334;15284860;12477932;12440815;12136098;11896457;8125298;19913121;20628086;20677014;20855536;19524489;19671159;20379614;21550398;22573796;18029348;23077088 79370 C9J3S1;C9K0Q9;K7EKK7;K7EMX4;Q9BZR8 ABBA01067828;ABBA01067829;AC007537;AF281254;AF281255;AJ329005;AK000127;AK026440;AK223415;AK292995;AMYH01004286;AMYH01004287;AY040274;BC025778;CH471094;HC679613;NG_029375;NM_030766;NM_138722;NM_138723 AAG59793;AAG59794;AAH25778;AAK72109;BAD97135;BAF85684;CBL93958;EAW96247;EAW96248;EAW96249;EAW96250;EAW96251;NP_110393;NP_620048;NP_620049;Q9BZR8 Hs.210343 1661982;1797314;2187605;2217568;5037552 BCLG_1767;D8S2279;LRP6_4011;WI-16673;WI-18051 BCLG OTTHUMP00000215698;OTTHUMP00000215700;apoptosis facilitator Bcl-2-like protein 14;apoptosis regulator BCL-G;bcl2-L-14 APPROVED protein-coding ENSG00000121380 16657 05841 606126 REVIEWED 1352362 BCL2L2 BCL2-like 2 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010] 14 14 q11.2-q12 22845852 22850808 + 23775971 23780968 + 1580863;2313963;2313975;6480464 18817839;17322918 15694340;16697956;9500547;8761287;19369647;19336552;19141860;19124064;19114998;19097687;18692484;17459056;16475813;16344560;15489334;15147516;12651847;12477932;12115603;11546872;11483855;11423909;11152643;9731710;9430630;9039502;10381646;12952938;12660157;20510331;20515870;20575554;20696142;20736132;20808289;21060336;10737800;15342556;15790807;17306351;20062536;20213841;20501806;19451595;19573080;19654003;19913121;20628086;20819778;20855536;20959405;22850539;21822301;22318606;17289999;21947305;22138435;22570867;22000515;19322201;23337879;23369735;22780970 599 G3V3B7;G3V3G8;G3V4B7;G3V5A9;H0YJC7;Q92843 AA524030;AA741032;ABBA01061318;AK289519;AL049829;AMYH01005603;BC021198;BC104789;BC113522;BP216712;BQ001111;BQ359913;BT019549;CH471078;D87461;DA196433;DA288957;DA451936;NM_001199839;NM_004050;U59747 AAB09055;AAH21198;AAI04790;AAI13523;AAV38356;ADR82846;BAA19666;BAF82208;EAW66169;NP_001186768;NP_004041;Q92843 Hs.410026;Hs.735863 1687968;1795422;2190525;2191727 BCL2L2_718;EST16D6;MARC_5753-5754:996690790:1;RH75103 BCL-W;BCL2-L-2;BCLW;KIAA0271;PPP1R51 BCL2-like 2 protein;OTTHUMP00000027940;OTTHUMP00000246228;OTTHUMP00000246229;apoptosis regulator BCL-W;bcl-2-like protein 2;bcl2-L-2;protein phosphatase 1, regulatory subunit 51 APPROVED protein-coding ENSG00000129473 995 03569 601931 REVIEWED 1315911 BCL2L13 BCL2-like 13 (apoptosis facilitator) This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q11.1 1741236 1831699 + 16501485 16591991 + 18121350 18213621 + 1580863;6480464 10591208;11262395;18519826;17360363;17081983;16189514;15489334;15461802;14702039;12527362;12477932;11381032;16189266;19643727;20068093;20179162;20713527;17974005;18669648;19064571;20109966;20237496;20379614;20855536;20877624;21832049;21139048;21890473;21906983;15146197;16344560;22921587 23786 A8K5Y4;B7Z238;B7Z737;E9PDD6;F2Z2C3;H0Y3R5;Q86T62;Q8IZP5;Q9BXK5 ABBA01001432;ABBA01001433;ABBA01001434;ABBA01001435;ABBA01001436;ABBA01001437;ABBA01001438;AC006285;AF086412;AF146568;AF183411;AF246665;AF325209;AF539453;AK027443;AK056248;AK075044;AK291449;AK294286;AK301394;AK314489;AL133029;AL831982;AMYH01012436;AMYH01012437;AMYH01012438;BC003032;BC007658;BC016037;BE900458;BI560132;BX354578;BX407004;CH471193;CN420914;CR456521;DA154984;DA169152;DA478149;DA799358;DC341613;NM_001270726;NM_001270727;NM_001270728;NM_001270729;NM_001270730;NM_001270731;NM_001270732;NM_001270733;NM_001270734;NM_001270735;NM_015367;NR_073068;NR_073069 AAF03602;AAG09680;AAH07658;AAH16037;AAK15150;AAK27358;AAN10130;ABM84173;ABM87575;BAF84138;BAG37090;BAG51659;BAH11724;BAH13473;CAB61361;CAD89976;CAG30407;CAK54552;CAK54851;EAW57766;EAW57767;EAW57768;NP_001257655;NP_001257656;NP_001257657;NP_001257658;NP_001257659;NP_001257660;NP_001257661;NP_001257662;NP_001257663;NP_001257664;NP_056182;Q9BXK5 Hs.631672 1647977;1700730;1788968;2144620;2153622;5019835;5124656 A010A02;D22S1246;G33035;G65560;RH103990;RH11337;RH48192 BCL-RAMBO;Bcl2-L-13;MIL1 OTTHUMP00000196198;OTTHUMP00000196199;OTTHUMP00000196200;OTTHUMP00000233719;Protein Mil1;bcl-2-like protein 13 APPROVED protein-coding ENSG00000099968 17164 09822 REVIEWED 1314971 BCL3 B-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008] 19 19 q13.1-q13.2 49943820 49955141 + 45251978 45263301 + 1580863;6480464;6484113 20547759;16940298;16732314;16311697;16123212;16099425;15829968;15634875;15489334;15469820;15105810;12808109;12730195;12477932;12456498;11707390;11485202;10607713;10497212;10362352;9812988;9576921;9218802;8497270;8453667;16306601;8196632;11387332;16108830;16384933;16280327;9407099;19494302;19383626;19229118;19191868;18940474;18796561;18025803;17963943;17881446;17644518;17495977;17272867;8428580;8330739;7896265;7691160;2180580;2124350;1923524;1501714;1406939;17923499;14678988;10469655;22782967;20658525;19282837;19451226;19617629;19806201;19913121;20226764;20471052;19893491;20414006;20558726;20731879;21048031;20800578;20572854;20601676;20634891;20672350;20974051;20737317;16331275;21912613;17962807;23149915;21988832;22580608;23115114;23565137 602 H7C0A2;P20749 ABBA01040882;AC092066;AK296180;AK309453;AMYH01009842;BC064993;BU501187;CH471126;M31731;M31732;NM_005178;Z15098 AAA51815;AAA51816;AAH64993;BAH12275;EAW57291;NP_005169;P20749 Hs.31210 1689789;1741941;1792824;1795426;1851782;5122599 BCL3_1822;GDB:186920;PMC164841P1;RH75793;RH78499;STS-M31732 BCL4;D19S37 B-cell leukemia/lymphoma 3;B-cell lymphoma 3 protein;B-cell lymphoma 3-encoded protein;BCL-3;OTTHUMP00000200151;OTTHUMP00000200152;chronic lymphatic leukemia protein;proto-oncogene BCL3 APPROVED protein-coding ENSG00000069399 998 00179 109560 REVIEWED 1319851 BCL7A B-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 122097731 122138585 + 120944244 120984333 + 122459861 122499950 + 6480464 15897551;19336552;18663754;15489334;14743216;12477932;9931421;8605326;19573080;19773279;21145461;20562864;20460684;20360068;21555454;21890473;22856870;23043359 605 Q4VC05 ABBA01020197;ABBA01020198;AC069503;AC145420;AC156455;AK296159;AK316486;AMYH01004824;BC094723;BC113627;BM801030;CH471054;NM_001024808;NM_020993;X89984 AAH94723;AAI13628;ADR82878;BAG58898;BAH14857;CAA62011;EAW98301;EAW98302;NP_001019979;NP_066273;Q4VC05 Hs.530970 1699300;1720553;1746355;1758221;1782646;1795428;2125142;5125068 BCL7A_1791;G59230;G64631;RH103236;RH67957;RH80875;SHGC-147729;SHGC-149267 BCL7 B-cell CLL/lymphoma 7 protein family member A;B-cell CLL/lymphoma-7;OTTHUMP00000239804;OTTHUMP00000239805 APPROVED protein-coding 1004 03243 601406 REVIEWED 1349060 BCL6B B-cell CLL/lymphoma 6, member B 17 17 17 p13.1 6951874 6958520 + 6867093 6873685 + 6926369 6932961 + 1580863;6480464 15489334;14702039;12477932;11855826;10965127;9632807;1946370;1505991;22279058;22318606;12659862;21917650 255877 A8KA13;H0YGW0;I3L304;I3L396;Q8N143 AB076580;AB076581;ABBA01054846;AC040977;AK024695;AK122893;AK292878;AK293102;AMYH01008065;BC059404;CH471108;M88371;NM_181844 AAA61329;AAH59404;ABZ92123;BAC00962;BAC00963;BAF85567;BAF85791;BAG53785;EAW90273;EAW90274;NP_862827;Q8N143 Hs.22575 1778268;1848015 AF021126;WI-13656 BAZF;ZBTB28;ZNF62 B-cell CLL/lymphoma 6 member B protein;B-cell CLL/lymphoma 6, member B (zinc finger protein);bcl6-associated zinc finger protein;zinc finger protein 62 APPROVED protein-coding ENSG00000161940 1002 16414 608992 VALIDATED 1319642 BCL6 B-cell CLL/lymphoma 6 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 3 3 q27 188921859 188946169 - 187439165 187463513 - 1600111;1580863;6480464;6484113 11821949 10898795;16819511;15577913;9135990;10490843;7795255;19367498;19336552;19141860;19052359;18801072;18776761;18676680;18675787;18660489;18636124;18604721;18500267;18494554;18487509;18354204;18346918;18256039;18212045;18203018;18166802;17989722;17989715;17889713;17828269;17785208;17689208;17635238;17625604;17594153;17576390;17558410;17542409;17476282;17468402;17403935;17392284;17360630;17296585;17210865;17151114;16943429;16896311;16815642;16773719;16772602;16766263;16733207;16728698;16704730;16489068;16455075;16344560;16264183;16249378;16194898;16147992;16125304;16094416;15609396;15509806;15377470;15339680;15277222;15202519;15191563;15146197;15024721;14690607;14655758;14654791;14551142;12970571;12881702;12879322;12860928;12835729;12775568;12590135;12562237;12555064;12518453;12515714;12507907;12477975;12477932;12469325;12413700;12402037;12393409;12389616;12217802;12165517;12097386;12004059;11994280;11929873;11920179;11914273;11911418;11854457;11175338;10601358;9927193;9765306;9649500;9632807;9624052;9380707;9311010;9171827;9110977;9047392;8758205;8692924;8618933;8506375;8274740;8274736;8235596;8220427;7795234;7639334;1946370;1505991;10611298;9627120;15531890;15454082;22395507;20935202;20959405;21048031;18029348;19170196;19268365;19307668;19448593;19465899;19487462;19525926;19549844;19564417;19573080;19625176;19631565;19656156;19692168;19701248;19773279;19787248;19797315;19797429;19816083;19855081;19925052;19965633;19966776;20032416;20124477;20160358;20175752;20237496;20299965;20379614;20385356;20453000;22994707;20547840;20348878;20557674;20630860;11865059;12659862;19575892;20733034;20966935;21509594;9753732;23166356;20830719;21390126;21424034;19379553;19797725;19236753;21623692;21055028;21092586;20807888;21785430;21783402;21725042;15004558;16142238;21911423;22113614;22668559;22318606;22493480;21988858;21788950;21906983;22893614;23335369;22124122;23476051;23534349;20981461;22797727;21855110;22158496;22204827;22427637;22451912;19337254;22649468;22968395;23269799;18280243;19121354;15849194;23348205;22833560;23042398;23284291 604 B5B0A5;C9JCS5;C9JL16;P41182 ABBA01058367;AC072022;AF240680;AI624861;AK304325;AK308162;AMYH01013747;AW337942;AW470156;BC142705;BC146796;BC150184;BX649185;CH471052;CN401512;DB025893;DB079847;EU139066;EU883531;M88362;NG_007149;NM_001130845;NM_001134738;NM_001706;S67779;U00115;Z21943;Z79581 AAA61320;AAC50054;AAI42706;AAI50185;ABX45135;ACG60659;BAG65174;CAA79937;CAE46203;EAW78140;EAW78141;NP_001124317;NP_001128210;NP_001697;P41182 Hs.478588 1661104;1674103;1792134;1793922;1850777;1852456;2131338;2167935;2172777;2176950;5095000 BCL6;PMC137537P1;PMC309637P2;RH47862;RH69801;RH70520;SHGC-34056;SHGC-64334;SHGC-77610;SHGC-77640;STS-W46183 BCL5;BCL6A;LAZ3;ZBTB27;ZNF51 B-cell lymphoma 5 protein;B-cell lymphoma 6 protein;B-cell lymphoma 6 protein transcript;BCL-5;BCL-6;OTTHUMP00000209895;OTTHUMP00000209897;OTTHUMP00000209900;cys-his2 zinc finger transcription factor;lymphoma-associated zinc finger gene on chromosome 3;protein LAZ-3;zinc finger and BTB domain-containing protein 27;zinc finger protein 51;zinc finger transcription factor BCL6S APPROVED protein-coding ENSG00000113916 1001 00180 109565 REVIEWED 1319242 BCL9L B-cell CLL/lymphoma 9-like 11 11 11 q23.3 115926540 115941305 - 118272059 118286823 - 118766849 118781613 - 6480464 17052462;15371335;12964048;12477932;15574752;19328798;20637214;21703997;22109522;18029348 283149 E9PIW0;E9PNR0;Q86UU0 AB094091;ABBA01039689;AK122650;AK122882;AMYH01004077;AP004609;AY296059;BC033257;CH471065;NM_182557 AAH33257;AAI56198;AAQ62697;BAC76045;BAC85500;BAC85512;EAW67418;NP_872363;Q86UU0 Hs.414740 1703222;5107489;5493885 Bcl9l;D11S795;SGC32303 BCL9-2;DLNB11 B-cell CLL/lymphoma 9-like protein;B-cell lymphoma 9-like protein;BCL9-like protein;OTTHUMP00000232840;OTTHUMP00000232841;nuclear co-factor of beta-catenin signalling;protein BCL9-2 protein-coding 23688 10612 609004 VALIDATED 1318207 BCL7C B-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 16 16 16 p11 29392347 29398624 + 30806617 30812900 - 30899116 30905399 - 6480464 19336552;17081983;15489334;15345747;15302935;12477932;9931421;8605326;19573080;19773279;17207965;18809673;19759913;21832049;19471022;21555454 9274 I3L1Q2;I3L4D5;Q8WUZ0 ABBA01042067;AC135048;AJ223980;AMYH01007499;BC019071;BC058863;CH471192;NM_004765 AAH19071;AAH58863;ADQ32980;ADZ15675;CAA11754;EAW52193;NP_004756;Q8WUZ0 Hs.658547 2124748 D16S3338 B-cell CLL/lymphoma 7 protein family member C;OTTHUMP00000163247;OTTHUMP00000163248 APPROVED protein-coding 1006 05787 605847 REVIEWED 1315830 BCL9 B-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008] 1 1 q21 145479806 145564641 + 147013182 147098017 + 1580863;6480464 19322201;11955446;17113272;18789482;18498752;18347063;17052462;15302935;14612447;12477932;12047235;10602418;9490669;15294866;19328798;19715304;19738061;20379614;21383261;19913121;20628086;20637214;22914623;22024689;23382809;15146197;16344560 607 O00512;Q1JQ81 ABBA01004401;AC242628;AL359207;AL590667;AMYH01001225;AMYH01001226;AW104430;BC116451;CH471223;CN281037;CN281038;DA593760;HI574316;NM_004326;Y13620 AAI16452;CAA73942;CAI15198;CBX47647;EAW50932;EAW50933;NP_004317;O00512 Hs.415209 1689813;1715867;1756505;1774865;1795432;2189325;5022689 AL009676;BCL9;BCL9_52;MARC_1017-1018:991929864:1;RH119628;RH41927;SHGC-143527 LGS;MGC131591 B-cell CLL/lymphoma 9 protein;B-cell lymphoma 9 protein;OTTHUMP00000015909;bcl-9;protein legless homolog APPROVED protein-coding ENSG00000116128 1008 04000 602597 REVIEWED 1349003 BCL7B B-cell CLL/lymphoma 7B This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010] 7 7 7 q11.23 68428601 68449940 - 72588622 72609960 - 72950683 72972065 - 1302558;6480464 9806765 8605326;18193044;15489334;14702039;12477932;9931421;9860302;16344560;20571754;20972250;20864672;21300955;23018576;20360068;22318606;21044950;21890473;23505323 9275 F2Z3H6;F8WDZ4;F8WE18;Q9BQE9 ABBA01063951;AC005089;AJ223979;AK290091;AL553260;AMYH01017533;AMYH01017534;AW328570;BC000956;BC001967;BC009548;BI837138;BQ109412;CH471200;DA688517;NG_027959;NM_001197244;NM_001707;NR_036682;X89985 AAH00956;AAH01967;AAH09548;ABM84642;ABM92173;BAF82780;CAA11753;CAA62012;EAW69675;EAW69676;EAW69677;EAW69678;NP_001184173;NP_001698;Q9BQE9 Hs.647051 1689484;1735632;1790441;1795430;1853893;2116964 BCL7B_80;D7S2038E;D7S3295;RH69607;RH79567;STS-H69097 B-cell CLL/lymphoma 7 protein family member B;OTTHUMP00000160391;OTTHUMP00000211550 APPROVED protein-coding ENSG00000106635 1005 05786 605846 REVIEWED 1344777 BCPM benign chronic pemphigus (Hailey-Hailey disease) 7240710 7981684 1013 169600 1346552 BCMO1 beta-carotene 15,15'-monooxygenase 1 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] 16 16 q23.2 79829797 79882248 + 81272296 81324747 + 634553;1580863;6480464;6903956;6484679;6907045;7240710 10799297;21569862;21718801 19185284;19103647;18282583;17951468;16504037;15489334;14702039;12477932;11401432;10766819;15983114;18464913;19662379;19844255;20221844;20599666;15583024;18295589;23134893;21091228;22113863 53630 E7EM88;H3BPA2;H3BV18;Q9HAY6 ABBA01016967;ABBA01016968;ABBA01016969;ABBA01016970;ABBA01016971;AC009148;AC131888;AF294900;AK001592;AK296011;AMYH01007849;BC022269;BC126210;BC126212;CH471114;NG_012171;NM_017429 AAG15380;AAI26211;AAI26213;ADR83052;BAA91776;BAG58782;EAW95537;EAW95538;NP_059125;Q9HAY6 Hs.212172 2218306 BCMO1_4442 BCDO;BCDO1;BCMO;BCO;BCO1;FLJ10730 OTTHUMP00000174978;beta,beta-carotene 15,15'-monooxygenase;beta-carotene 15, 15'-dioxygenase 1;beta-carotene dioxygenase 1 APPROVED protein-coding ENSG00000135697 13815 12042 115300;605748 REVIEWED 1344218 BCORP1 BCL6 corepressor pseudogene 1 Y Y Y q11.222 6108501 6156219 + 20076705 20124427 - 21617317 21665039 - 14702039;12815422;12477932;9847074 286554 Q8N888 ABBA01073759;ABBA01073760;ABBA01073761;AC010137;AK097140;AK303164;BC063452;BC110520;BC110521;BC122539;NR_002923;NR_033732 BAC04961;BAG64264;Q8N888 Hs.211713 2188631;2188645;2188661;2188677;2188681;5017969;5017971;5022826;5095143;5095145;5095147;5095149;5095151;5095153;5095155;5095157 BCoRP-10;BCoRP-12;BCoRP-13;BCoRP-14;BCoRP-4-1;BCoRP-4-2;BCoRP-4-3;BCoRP-4-4;BCoRP-4-5;BCoRP-4-6;BCoRP-9;G66368;G66375;G66383;G66391;G66543 BCORL2;FLJ39821 BCoR-like protein 2;putative BCoR-like protein 2 APPROVED pseudo 23953 08266 VALIDATED 1349428 BCRL2 breakpoint cluster region-like 2 3267213 614 1015 1319131 BCO2 beta-carotene oxygenase 2 This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 11 q23.1 109199441 109242886 + 111551418 111594862 + 112046208 112089652 + 1580863;6480464 11278918;15983114;15949678;14702039;12477932;8889548;16712791;21106934;22610502;18464913;20150558;19913121;20628086;21302131;20967262 83875 B2RCV8;E9PPP9;E9PS89;H0YCL7;H0YCN8;Q9BYV7 AB096252;ABBA01039801;ABBA01039802;AF276432;AJ290393;AK027801;AK091783;AK297853;AK315300;AMYH01004035;AP002884;BC041656;BC047934;BU732625;BX503569;CB162567;CD708042;CH471065;EF444956;NM_001037290;NM_001256397;NM_001256398;NM_001256400;NM_031938 AAH41656;AAK69433;ACA05952;BAB55379;BAC03747;BAG37705;BAG60185;CAC27994;EAW67189;EAW67190;EAW67191;EAW67192;EAW67193;EAW67194;NP_001032367;NP_001243326;NP_001243327;NP_001243329;NP_114144;Q9BYV7 Hs.728325 2133939;5125809 RH77842;SGC30933 B-DIOX-II;BCDO2;FLJ34464 OTTHUMP00000163945;OTTHUMP00000196941;OTTHUMP00000196942;OTTHUMP00000234754;OTTHUMP00000234755;OTTHUMP00000234756;b,b-carotene-9',10'-dioxygenase;beta,beta-carotene 9',10'-dioxygenase variant 1;beta,beta-carotene 9',10'-oxygenase;beta-carotene 9',10' oxygenase;beta-carotene dioxygenase 2 APPROVED protein-coding ENSG00000197580 18503 12522 611740 REVIEWED 1353768 BCRL6 breakpoint cluster region-like 6 q11.23 10591208 23775 AP000359 breakpoint cluster region-like 6 protein-coding 1019 4144675 BCRP1 breakpoint cluster region pseudogene 1 22 22 22 q11.23 8453760 8460124 - 22982958 22987566 - 24653368 24659733 - 3267213;22199321 644079 AMYH01012663;AP000354;NG_009423 BCR-1 pseudo 39073 INFERRED 1344297 BCRP4 breakpoint cluster region pseudogene 4 22 22 q11.22 21302536 21309055 + 22972536 22979055 + 10591208;9074928 616 AMYH01012639;D87002;NG_000002 BCR-4;BCR4;BCRL4 APPROVED pseudo 1017 113660 VALIDATED 1320189 BCLAF1 BCL2-associated transcription factor 1 This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q22-q23 136619694 136652682 - 136578001 136610989 - 6480464 10330179;15009215;17938203;17081983;16964243;16565220;16083285;15681850;15659558;15489334;15324660;15302935;14574404;12477932;8724849;12890497;21145461;20661537;10837489;18029348;19705920;20855536;16055720;16159877;21182205;22990118;21454709;16196087;20360068;19471022;21139048;21693764;21890473;21906983;21628590;22645331;17620599;22318606;22833098;18271526;22952844 9774 B0AZU3;E9PJA7;E9PK09;E9PK91;E9PKI6;E9PQN2;H0YF00;H0YF14;H0YF63;Q9NYF8 ABBA01025829;AF249273;AK303559;AK308870;AK309259;AK315884;AL121713;AMYH01016696;BC016682;BC047687;BC047887;BC056894;BC063846;BC078160;BC132780;BC144281;BC144282;BC144299;BX107174;BX537576;BX648431;BX648878;BX649160;CH471051;D79986;NM_001077440;NM_001077441;NM_014739 AAF64304;AAH16682;AAH47687;AAH47887;AAH56894;AAH63846;AAH78160;AAI32781;AAI44282;BAA11481;BAF98775;BAH13985;EAW47949;EAW47950;EAW47951;EAW47952;NP_001070908;NP_001070909;NP_055554;Q9NYF8 Hs.486542 1665188;1665190;1671526;1673449;1676426;1679331;1720217;1740131;1744339;2121580;2132002;2184895;2186759;2189551 A005T27;D6S1538;D6S2199;G20483;GDB:451730;RH124022;RH1522;RH25382;RH47371;RH68011;RH93195;SHGC-56727;STS-AA037848;UniSTS:236317 BTF;KIAA0164;bK211L9.1 OTTHUMP00000017270;OTTHUMP00000234711;OTTHUMP00000234733;OTTHUMP00000234734;OTTHUMP00000234777;OTTHUMP00000234778;OTTHUMP00000234780;OTTHUMP00000234781;bcl-2-associated transcription factor 1 APPROVED protein-coding ENSG00000029363 16863 16544 612588 REVIEWED 1346589 BCORL1 BCL6 corepressor-like 1 The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] X X X q25-q26.1 129525724 129578619 + 128944350 129019282 + 129139164 129192058 + 6480464 17697391;17379597;14702039;12477932;16344560;18029348;21989985;19471022;21139048;21693764;21906983;22318606;22325352;23064961;23523425;22505724 63035 H7C4B2;Q5H9F3 ABBA01047875;ABBA01047876;ABBA01047877;ABBA01047878;ABBA01047879;ABBA01047880;AI209024;AK021424;AK024395;AK074089;AK124676;AL034405;AL096777;AL136450;AMYH01022968;AMYH01022969;BC044652;BE244710;BE246581;CH471107;DA227697;NG_021274;NM_021946;Z82208 AAH44652;AAI56743;BAB13821;BAB84915;BAC85922;CAB46626;EAX11815;EAX11816;EAX11817;EAX11818;NP_068765;Q5H9F3 Hs.496748 1677146;1691600;1699392;2156851;2172550;2185192;5037552;5037554 AFM338za9;AL008917;AL032547;D8S2279;D8S2282;DXS9756;RH103287;RH93023 B930011H20Rik;BCoR-L1;CXorf10;FLJ11362;FLJ11632 BCL-6 corepressor-like protein 1;BCL6 co-repressor-like 1;BCoR-like protein 1;OTTHUMP00000023995;OTTHUMP00000023996 APPROVED protein-coding ENSG00000085185 25657 06517 300688 REVIEWED 1605782 BCRP2 breakpoint cluster region pseudogene 2 22 22 q11.21 19787305 19806575 + 21457305 21476575 + 14702039;10591208;3267213 400892 ABBA01012519;AK124943;AP000550;NR_037566 BAC86000 Hs.505361 BCR-2;BCR2;BCRL2;FLJ36027;FLJ42953 APPROVED pseudo 1015 13467 113630 VALIDATED 1606540 BCOR BCL6 corepressor The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010] X X p11.4 39795561 39846998 - 39910499 40036582 - 6480464;7240710 15004558;16943429;10898795;15878880;17517692;18280243;16713569;15770227;15489334;15302935;14702039;12776190;12522145;12477932;12116202;11777915;10997877;8125298;22318606;22325352;21139048;21693764;21890473;21906983;20431927;19578371;18801742;22301464;20807888;20854876;22012066;21963094;23000965;20639865;21987572;22387997;19471022;20301694;23523425;23074094;19121354;23470693;22053931;22505724 54880 A6NE70;C9JHP3;H7BYY2;H7BZ37;H7C231;H7C2V9;Q9H232 AB046795;ABBA01046854;ABBA01046855;ABBA01046856;ABBA01046857;ABBA01046858;ABBA01046859;ABBA01046860;ABBA01046861;ABBA01046862;ABBA01046863;ABBA01046864;ABBA01046865;ABBA01046866;ABBA01046867;ABBA01046868;ABBA01046869;ABBA01046870;ABBA01046871;ABBA01046872;ABBA01046873;ABBA01046874;AC091806;AC092198;AF317391;AF317392;AK000292;AK056538;AK074286;AK095360;AK225581;AL591802;AL698729;AMYH01022220;AMYH01022221;AMYH01022222;AMYH01022223;AY316592;BC009675;BC063536;BC114220;BC128387;BC128456;CH471141;NG_008880;NM_001123383;NM_001123384;NM_001123385;NM_017745 AAG41429;AAG41430;AAH09675;AAH63536;AAI14221;AAI28388;AAR08265;BAA91061;BAB13401;BAB85037;BAG53034;EAW59425;EAW59426;EAW59427;EAW59428;EAW59429;EAW59430;NP_001116855;NP_001116856;NP_001116857;NP_060215;Q6W2J9 Hs.659681 1647633;1649667;1683044;1697002;1702084;1758289;2144369;2188681;2220442 DXS228;DXS7568;DXS992;G66543;RH101975;RH91894;SHGC-147935;SHGC-56557;UniSTS:482364 ANOP2;FLJ20285;FLJ38041;KIAA1575;MAA2;MCOPS2;MGC131961;MGC71031 BCL-6 corepressor;BCL-6 interacting corepressor;BCL6 co-repressor;OTTHUMP00000025761;OTTHUMP00000025763;OTTHUMP00000025766;OTTHUMP00000025767;OTTHUMP00000202255 APPROVED protein-coding ENSG00000183337 20893 06458 300166;300485 REVIEWED 4144530 BCRP6 breakpoint cluster region pseudogene 6 22 22 q11.21 19972108 19976715 - 21642518 21648878 - 728468 AP000552;NG_009421 pseudo 39074 INFERRED 4144517 BCRP7 breakpoint cluster region pseudogene 7 22 22 q11.21 17219387 17229298 - 18839797 18846153 - 100133163 AC008103;AC008132;AMYH01012466;NG_009420 pseudo 39075 INFERRED 1346208 BCRP5 breakpoint cluster region pseudogene 5 22 22 q11.21 19379726 19383194 - 21049726 21053247 - 10591208 648980 ABBA01015447;AC007050;AMYH01012537;NG_009418 BCRL5 breakpoint cluster region-like 5 APPROVED pseudo 1018 INFERRED 1343553 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 q42 8265590;7684772 620 AADB02001168;ABBA01048064;NG_001085;U01308 BC200g pseudo 1024 INFERRED 4144531 BCRP8 breakpoint cluster region pseudogene 8 22 22 22 q11.23 7336577 7337546 - 21850726 21853015 - 23522110 23522359 - 1317490;1763041;1868241;2193202;2678002;2915904;3023859;3107980;3194194;3463934;6281890;6316147;6319012;7063411;7506601;7665185;8453102 100133044 ABBA01055103;AMYH01012640;NG_032057;U07000 1742185;1744391;5017629 BCR;GDB:193184;GDB:452640 pseudo 39076 INFERRED 1352977 BCRP3 breakpoint cluster region pseudogene 3 22 22 22 q11.23 7466119 7474738 + 23355513 23379737 + 25028882 25049327 + 6480464 3267213;10591208;16344560;3267213 644165 ABBA01055143;ABBA01055144;ABBA01055145;AK297038;AMYH01012670;AP000356;AW193769;BM920079;BX090183;DB345226;NR_024494 BAG59566 Hs.531306;Hs.655234;Hs.730665 5106704;5113551;5117214 GDB:451800;RH66855;RH80432 BCR3;BCRL3;BCRL6 APPROVED pseudo 1016 113640 VALIDATED 1352984 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 X X X q27.1 139170224 139170420 + 138630404 138630607 + 138802738 138802934 + 8265590;7684772 619 ABBA01066060;AL161777;AMYH01023059;NG_003040;U01307 BC200b pseudo 1023 INFERRED 5130619 BCYRN1P3 brain cytoplasmic RNA 1, pseudogene 3 13 13 13 q11 355128 355321 - 18181822 18182140 - 19283849 19284042 - 8265590 654337 AL391382;AMYH01004930;NG_005375 pseudo 39833 INFERRED 1349102 BCYRN1 brain cytoplasmic RNA 1 This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p21 47401236 47401434 + 47415958 47416157 + 47562454 47562653 + 6480464 17553964;16054886;15240511;11399078;9858834;8265590;7684772 618 ABBA01075156;AC079775;AF020057;AMYH01010322;NG_005471;NR_001568 BC200;BC200a;LINC00004;NCRNA00004 APPROVED miscrna 1022 606089 REVIEWED 1342712 BDK bradykinin 589 1028 614923 1351481 BDH2P1 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 6 6 6 q16.2 100266678 100269574 + 99729168 99732267 + 99622547 99625446 + 389416 ABBA01014489;AL591803;AMYH01016537;NG_005299 1676826;1677488 RH94279;SHGC-67353 DHRS6P1;bA758C21.1 dehydrogenase/reductase (sdr family) member 6 pseudogene 1 pseudo 21476 INFERRED 1348244 BDM behavior disorder modifier 625 1031 1354326 BDMR brachydactyly-mental retardation syndrome 7240710 7847374 626 1032 600430 1317506 BCR breakpoint cluster region A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.23 21852552 21990224 + 23522552 23660224 + 1580863;1600510;1600511;6480464;6907045;7240710 3101769;11560856 20141430;20442314;22542470;1903516;1657398;19240172;19203346;19135771;19067742;19061839;19048492;19020542;18827185;18809762;18794796;18784740;18704194;18676680;18617057;18603549;18603297;18549649;18538733;18503828;18495245;18474292;18406872;18406870;18391951;18385754;18354488;18287094;18246120;18227349;18082628;18070886;17939855;17934518;17928051;17822820;17768128;17762503;17710227;17638918;17638851;17597804;17579186;17374743;17349636;17347407;17303698;17196995;17145570;17102890;17090304;17081983;17018862;16998483;16966279;16955467;16914906;16912036;16888785;16855631;16849647;16670264;16631477;16598834;16596225;16543472;16502580;16502579;16494625;16490599;16481037;16469868;16449534;16442619;16442529;16418324;16264277;16116902;16079118;15968309;15866548;15857938;15735728;15723338;15716990;15684424;15626746;15542838;15494376;15489334;15481444;15389825;15248918;15145216;15144186;14993251;14966468;14961028;14702039;14656881;14654084;14581377;14534537;12890867;12821944;12808105;12781448;12764153;12734675;12560071;12556557;12522270;12477932;12408765;12370803;12145699;12144533;12115002;12114534;12096337;12023981;11790798;11780146;11746971;11376433;11069024;10887126;10508479;9949177;9874796;9747873;9566916;9467953;9407116;9211920;9209414;9178913;9053848;8955135;8756631;8622703;8502487;8453102;8204871;8112292;7939633;7724587;7665185;7529874;7506601;6584200;6319012;6316147;6281890;3540951;3463934;3422516;3285291;3194194;3118359;3107980;3023859;2989703;2989692;2915904;2825022;2263470;2193202;1900918;1868241;1763041;1712671;1706781;1317490;9535855;9788431;15143164;10887132;10706130;7534286;12543778;16169070;9071815;7606002;8757502;12393433;12592324;10849448;10194128;8978305;9872323;8195176;2678002;2407300;1383690;21489624;2820585;21266020;21239056;20015884;16045749;16825666;17643375;19170196;19261608;19295548;19369965;19557636;19571320;19608682;19615732;19619277;19625176;19625707;19652056;19692168;19718053;19724931;19840940;19876398;19911011;20007699;20010464;20028985;20038234;20351714;20463552;20379614;20633771;20207846;20697350;20452982;16778200;20739956;20717963;20520635;20607847;21156844;21183952;21045136;22233112;22587422;22772060;22231445;22957062;23062104;22847163;23086624;23124138;21203397;21674858;17314511;20304029;21248063;21935931;21330459;21310073;21641753;22782217;23317202;23455922;21693761;21504383;21764785;21908428;20675402;21762985;21900237;21895409;21903771;21960589;21124777;22591684;22593461;23062378;23396943;22665066;23047475;21139048;21906983;22526369;22184410;22327125;22471662;16999686;22384256;22447844;8943292;8621719;14725908;22230800;22889411;23269583;12586822;17110338;21706016;21963094;23171834;23207522;23223358;22896000;19380743;22952844;15123239;23428668;22787435;23287430 613 A9UF05;H0Y554;P11274 AB209991;AB742170;AB742171;ABBA01055103;ABBA01055104;ABBA01055105;ABBA01055106;AF192533;AF487522;AK122842;AK124310;AK128501;AK303241;AM491360;AMYH01012640;AMYH01012641;AY533677;AY536245;AY536246;AY536247;AY536248;AY536249;AY536250;BC031568;BC041705;BC053641;BC063619;BC066122;BC071742;BC083493;BQ422888;CH471095;EU216058;EU216059;EU216061;EU216062;EU216063;EU216064;EU216067;EU216069;EU216070;EU394718;HQ622706;L02935;M15025;M17542;M55395;M64437;NG_009244;NM_004327;NM_021574;U07000;X02596;X06418;X14676;X52828;X52829;Y00661 AAA35594;AAA35595;AAB60388;AAB60389;AAB60390;AAF61858;AAH83493;AAL99544;AAN76489;AAS46907;AAS46908;AAS46909;AAS46910;AAS46911;AAS46912;AAS57923;ABX82700;ABX82701;ABX82703;ABX82704;ABX82705;ABX82706;ABX82709;ABX82711;ABX82712;ABZ01959;ADU04570;BAE06073;BAG64327;BAM36291;BAM36292;CAA26441;CAA29726;CAA32806;CAA37010;CAA37011;CAA68676;CAM33010;EAW59564;EAW59565;EAW59566;EAW59567;EAW59568;EAW59569;EAW59570;NP_004318;NP_067585;P11274 Hs.517461;Hs.715409 1336560;1676049;1687616;1709268;1722413;1741551;1741553;1742081;1742185;1744391;1784512;2121612;2125985;2134929;2147343;2160552;2165026;5015961;5016596;5017629;5019735;5021596;5022322;5022403;5096226;5106704;5108177;5113551;5117214;5119527;7190681;7190691 A005T29;A009L29;BCR;D11S2560;D15S1477;D22S1027;D22S1100E;D22S257;G20484;G32654;G60279;GDB:177065;GDB:181503;GDB:181505;GDB:190907;GDB:193184;GDB:315173;GDB:451800;GDB:452640;GDB:631802;RH11197;RH27788;RH66855;RH70541;RH80432;SHGC-170331;SHGC-30277;SHGC-85827;SHGC-9196;STS-H69004 ALL;BCR1;CML;D22S11;D22S662;FLJ16453;PHL BCR/FGFR1 chimera protein;FGFR1/BCR chimera protein;OTTHUMP00000028949;OTTHUMP00000067895;breakpoint cluster region protein;renal carcinoma antigen NY-REN-26 APPROVED protein-coding ENSG00000186716 1014 01044 151410;608232;613065 REVIEWED 1344282 BDNF-AS BDNF antisense RNA 11 11 11 p14.1 27674107 27865830 + 27484975 27655928 + 27528399 27719718 + 17629449;15666411;21708048;19079260;22446693;20418890 497258 ABBA01060968;ABBA01060969;ABBA01060970;AC087750;AC100771;AC104563;AJ011597;AMYH01003456;AY054391;AY054401;AY054402;AY054403;AY054404;AY054405;AY513486;EF689022;EF689023;EF689024;EF689025;EF689026;EF689027;EF689028;EF689029;EF689030;EF689031;EF689032;EF689033;EF689034;EF689035;EF689036;EF689037;EF689038;EF689039;EF689040;EF689041;EF689042;NR_002832;NR_033312;NR_033313;NR_033314;NR_033315 Hs.675323 1342139;1725223;1732161;1737071;1742497;1770238;1774978;1790321;1797316;2122427;2144667;5108883 AFMB358ZC5;BDNF;BDNF-1;BDNF_2411;D11S1149;D11S1446;D11S1570;D11S2825;D11S4152;D11S4429;GDB:197571;RH118904 ANTI-BDNF;BDNF;BDNF-AS1;BDNFOS;BT2A;BT2B;BT2C;BT2D;NCRNA00049 APPROVED miscrna ENSG00000245573 20608 611468 VALIDATED 730874 BDKRB1 bradykinin receptor B1 Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 q32.1-q32.2 95792312 95800853 + 96722547 96731100 + 704381;704378;1580863;704379;704380;1625733;1625732;628496;1579989;2313334;5129217;5129229;5129222;4890450;5129227;5129214;5129218;5129220;6480464;6907045;7241550;7241551;7241554;7241559;7241560;7241561;7175321;7241569;7241570;1625040;7241581;7241582 12746865;12025958;12489796;12522068;17184856;15643125;12411434;12927641;18311190;17618300;20451601;20587056;17852785;18182225;17988733;11853231;12165532;20479236;20448019;18809736;18725957;9555662;10809796;21412216;20092893;15878326;15576455;12637034;10604543 7495867;17327486;17303584;17128974;17110500;16644486;15883268;15840906;15837330;15805101;15705059;15681300;15634338;15520046;15492119;15489334;15033977;14499231;12481150;12477932;12450400;12130679;12063092;12025967;11880373;11710536;11025765;10329474;10188626;8995263;8808279;10422787;8063797;9930991;19086053;19082699;19038786;18938142;18577888;18467203;18187413;18039525;18039523;17878384;17328065;21454694;8660997;8651911;11278902;21216565;18240029;19120546;19184415;19404481;19546528;19641039;19661485;19725054;19796797;19885862;20152050;21147512;18577758;16754659;19913121;20628086;21052031;21986309;16712791;20189583;22088753;21871009;22092568;22468084;22971439;22706224;23201435 623 G3V4Y2;P46663 AB065896;ABBA01048595;AF117819;AJ238044;AK291970;AK309528;AL355102;AMYH01005977;AY275464;BC034705;CB130642;CH471061;L42383;NM_000710;U12512;U22346;U30271;U48231;W49512 AAA21346;AAB60693;AAC50594;AAD14824;AAD17233;AAH34705;AAP32296;ABM82202;ABM85390;BAC06112;BAF84659;CAB45650;EAW81632;NP_000701;P46663 Hs.525572 1654251;2220336 BDKRB1;RH17999 B1BKR;B1R;BKB1R;BKR1;BRADYB1 B1 bradykinin receptor;BK-1 receptor;OTTHUMP00000245974;bradykinin B1 receptor;bradykinin receptor 1 APPROVED protein-coding 1029 02639 600337 REVIEWED 2289748 BDP1P B double prime 1 pseudogene 18 18 18 q23 71963251 71968444 - 73272904 73278292 - 75144013 75149205 - 724038 ABBA01015295;AC124254;AMYH01009115;NG_005602 1681686;2128853 NIB1337;RH68238 pseudo 31044 INFERRED 737289 BDH1 3-hydroxybutyrate dehydrogenase, type 1 This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 3 3 3 q29 195829052 195891752 - 198721051 198784591 - 197236654 197300194 - 1580863;2326093;2326100;4105460;6480464;6484113;6907045 15877199;3548709;3422549 1639787;19027726;15489334;12477932;11752456;11009606;10933785;8889549;8679568;8615695;7686368;17207965;20877624;21832049;18029348;21791085 622 C9JB83;C9JEB9;C9JM78;C9JQ90;C9K0G7;E9PCG9;H7C2W1;Q02338 ABBA01033769;ABBA01033770;ABBA01033771;ABBA01033772;AC128709;AC132008;AK126701;AMYH01013803;AMYH01013804;AMYH01013805;AMYH01013806;AV645953;BC005844;BC011964;BC019317;BC021183;BE782251;BI601294;BQ897235;CH471191;EF095211;H80183;M93107;NM_004051;NM_203314;NM_203315 AAA58352;AAH05844;AAH11964;AAH19317;ABL01515;ADQ32361;EAW53606;EAW53607;EAW53608;EAW53609;NP_004042;NP_976059;NP_976060;Q02338 Hs.274539 1646551;1653945;1664103;1671414;2140547;2160565;5037552 D3S4168;D8S2279;RH12227;SGC33667;SHGC-77706;STS-H66146;WI-16787 BDH;MGC2723;MGC4347;MGC9788;SDR9C1 (R)-3-hydroxybutyrate dehydrogenase;3-hydroxybutyrate dehydrogenase (heart, mitochondrial);D-beta-hydroxybutyrate dehydrogenase, mitochondrial;OTTHUMP00000208056;OTTHUMP00000208057;OTTHUMP00000208058;OTTHUMP00000208059;OTTHUMP00000208060;short chain dehydrogenase/reductase family 9C, member 1 APPROVED protein-coding ENSG00000161267 1027 04344 603063 REVIEWED 1604606 BDH2 3-hydroxybutyrate dehydrogenase, type 2 4 4 4 q24 101295921 101318163 - 104218231 104240473 - 103998782 104021024 - 6480464;6907045 15489334;14702039;12975309;12477932;10931946;16380372;19027726;20332099;17893145;22527885;21791085;21139048;21890473;21906983;22053931 56898 D6R9U8;D6RBF6;D6RFG2;D6RIR6;Q9BUT1 ABBA01063707;AC097485;AF164790;AK023323;AK128463;AK290160;AK291335;AK300626;AMYH01014434;AW136198;AY358841;BC001953;BC037277;BC095414;BI544872;CH471057;CR457309;HB929452;HB945850;HB959532;HC986861;HD003260;HD016942;NM_020139 AAF80754;AAH01953;AAH37277;AAH95414;AAQ89200;BAB14526;BAF82849;BAF84024;BAG54681;BAG62318;CAG33590;CBF99640;CBG07667;CBG14351;CBV13160;CBV21189;CBV27865;EAX06163;EAX06164;EAX06165;EAX06166;EAX06167;EAX06168;NP_064524;Q9BUT1 Hs.124696 1676826;1677060;1677488;1713811;2160181 RH120792;RH91916;RH94279;SHGC-67353;STS-N58734 DHRS6;EFA6R;FLJ13261;PRO20933;SDR15C1;UCPA-OR;UNQ6308 3-hydroxybutyrate dehydrogenase type 2;OTTHUMP00000082657;R-beta-hydroxybutyrate dehydrogenase;dehydrogenase/reductase (SDR family) member 6;dehydrogenase/reductase SDR family member 6;oxidoreductase UCPA;short chain dehydrogenase/reductase family 15C, member 1 protein-coding 32389 07103 VALIDATED 737386 BDKRB2 bradykinin receptor B2 This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008] 14 14 q32.1-q32.2 95740950 95780542 + 96671135 96710666 + 1331525;1580863;704378;704379;2313334;2313332;2313335;4890456;4890451;4891041;4891031;4891040;4891042;4891055;4890452;4890450;4890453;4890457;4891024;4891039;4890454;4891044;4891028;4891033;4891026;4891030;4891032;4891034;4891025;4891027;4890455;4891029;4891047;5129227;6480464;6907045 15118671;12025958;12489796;18311190;19300402;17596525;11517947;16600946;9208140;12522467;10188975;8856156;19950773;16138314;17852785;15878794;10702448;9039147;10385260;14727005;1890650;19038786;11149999;21052031;15021973;11699055;10904024;7791078;19744011;11934804;15316088;20080302;18182225 8302267;17077303;10993080;1314587;10653985;7916737;19420105;19339996;19110485;19086053;19082699;19074839;19017652;18938142;18927465;18810490;18672896;18577888;18467203;18430865;18258629;18187413;18180402;18096516;18039523;17593394;17569300;17522594;17420253;21600887;22108573;22468762;17363739;17328065;17327486;17303584;17299793;17207964;17110500;17030791;16950802;16740128;16489763;16461337;16344560;16294326;16263113;16144969;15894833;15805101;15771553;15664665;15654972;15643126;15643125;15634338;15489334;15301669;15281091;15161928;15117835;15114524;15112434;15033977;14607851;14499231;12851878;12705334;12640257;12489797;12481150;12477932;12450400;12177051;12130679;12107246;12063092;12039525;12025967;11954665;11908480;11747451;11710536;11517230;11446495;11409654;11324803;10748135;10681501;10510297;10469138;10188626;10085087;8900488;8777990;8652530;8394991;8063797;7835885;7779090;7779089;1329734;15664511;22304584;21108627;21145390;16754659;18240029;19120546;19404481;19456859;19565561;19578796;19580784;19628666;19716087;19725054;19854233;19885862;20036225;20044476;20045189;20050188;20201926;20300066;20511677;2834384;19913121;20473401;20592051;20602751;20628086;20856803;20944660;20952631;21451024;22653778;23132855;23093849;21626144;21719759;20189583;21586566;21602894;21871009;22047990;21210858;22935637;21986469;22016392;23176367;23243416;22706620;22706224;23275384;22900090 624 P30411;Q6LAU9 ABBA01048595;AF378542;AI095360;AK299316;AK311049;AL355102;AMYH01005977;AY275465;BC074894;BC074895;CH471061;CR749338;DA096163;DC422332;L27594;M88714;NM_000623;S45489;S56772;X69680;X86162;X86164;X86165;X86172;X86173 AAB02793;AAB23467;AAB25765;AAH74894;AAH74895;AAK56376;AAP32297;BAG61326;CAA49360;CAA60108;CAA60109;CAH18192;EAW81629;NP_000614;P30411 Hs.654542;Hs.726620 1792434;2150654 PMC150944P1;RH70880 B2R;BK-2;BK2;BKR2;BRB2;DKFZp686O088 B2 bradykinin receptor;BK-2 receptor;OTTHUMP00000245971 APPROVED protein-coding ENSG00000168398 1030 00213 113503 REVIEWED 1347169 BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012] 2 2 q33 219232623 219236410 + 219524379 219528166 + 1600515;1580863;6480464;7240710 11528392 18628306;9878253;19162478;18386115;17403714;17314340;16344560;15489334;14702039;12477932;12215968;9792866;9545407;9110174;8619474;8599931;8125298;16169070;19389488;19508421;20518024;20877624;22939629;21890473;21900206;21906983;20301352;20301382;20301403;23000965;22797925 617 A8JZZ8;C9J1S9;C9J4Q9;C9J8G3;C9JAS4;H7BZF6;H7C492;Q9Y276 ABBA01023861;AC009974;AC079810;AF026849;AF038195;AF346835;AF516670;AK096210;AK223518;AK289363;AMYH01011497;BC000416;BC007500;BX571752;CH471063;DA540458;DA613959;EF672347;NG_008018;NG_033099;NM_001079866;NM_001257342;NM_001257343;NM_001257344;NM_004328 AAB97365;AAD08638;AAH00416;AAH07500;AAK29417;AAN05490;AAY24033;ABM82803;ABM85990;ABV24964;ACE86996;ACE87685;BAD97238;BAF82052;BAG53231;CAE11877;EAW70634;EAW70635;EAW70636;EAW70637;EAW70638;EAW70639;EAW70640;NP_001073335;NP_001244271;NP_001244272;NP_001244273;NP_004319;Q9Y276 Hs.471401 1299945;1336266;1338282;1659190;1777508;1777510;5020250;7184430 D2S1371;D2S163;D2S434;NIB1635;WI-12445;WI-14333;WI-15403 BCS;BCS1;BJS;FLNMS;GRACILE;Hs.6719;MC3DN1;PTD;h-BCS BCS1-like protein;OTTHUMP00000164147;OTTHUMP00000206492;OTTHUMP00000206493;OTTHUMP00000206494;OTTHUMP00000206495;OTTHUMP00000206496;OTTHUMP00000206497;h-BCS1;mitochondrial chaperone BCS1;mitochondrial complex III assembly APPROVED protein-coding ENSG00000074582 1020 04708 124000;256000;262000;603358;603647 REVIEWED 4106408 BECN1P1 beclin 1, autophagy related, pseudogene 1 1 1 1 q43 215376527 215377822 + 240187692 240188987 + 242121069 242122364 + 22393976;16710414;20529838;20564222;20589936;21274862;21455500;21450329;21646352;21623196;22205736;21691148;22081109 441925 A8MW95 ABBA01033262;AMYH01001875;BX571673;NG_022940 A8MW95 1779926 SHGC-154177 BECN1L1 pseudo 38606 INFERRED 1318324 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008] 5 5 q13 70787198 70899405 + 70751442 70863649 + 1580863;6480464 18391023;17499043;16542149;15469824;15342556;15096501;14592981;14527415;12477932;11214970;11161782;11040218;10574462;9171375;9169441;20379614;23251661 55814 H0YCV8;H7C5U4;Q9H197 AB033067;AB051476;ABBA01061892;ABBA01061893;ABBA01061894;ABBA01061895;AC138832;AF176695;AF298151;AF298152;AI537645;AJ238520;AJ278892;AJ279120;AJ279144;AJ279145;AJ279146;AJ279147;AJ279148;AJ279149;AJ279150;AK057871;AMYH01015400;AMYH01015401;BC032146;BC146792;BC161615;BP246483;BP347992;BX641011;CH471084;CR749229;CR749289;NM_018429 A6H8Y1;AAG09268;AAG30220;AAG30221;AAH32146;AAI46793;AAI61615;BAA86555;BAB21780;BAB71602;CAC04245;CAC17771;CAC21448;CAE46010;CAH18085;CAH18144;EAW95688;EAW95689;NP_060899 Hs.258272 1647660;1681686;1749721;1755363;1755587;1785736;2128853;2217068 BDP1_3608;NIB1337;RH66386;RH68238;SHGC-111398;SHGC-142246;SHGC-142442;SHGC-81262 DKFZp686C01233;DKFZp686K0831;HSA238520;KIAA1241;KIAA1689;TAF3B1;TFC5;TFIIIB'';TFIIIB150;TFIIIB90;TFNR OTTHUMP00000222182;OTTHUMP00000222187;OTTHUMP00000224505;RNA polymerase III transcription initiation factor B'';TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1;transcription factor IIIB 150;transcription factor TFIIIB component B'' homolog;transcription factor-like nuclear regulator APPROVED protein-coding ENSG00000145734 13652 06114 607012 REVIEWED 7206952 BEND3P1 BEN domain containing 3 pseudogene 1 10 q11.23 52417863 52423706 + 644459 ABBA01052480;AL589794;AMYH01002732;NG_011921 pseudo 45014 INFERRED 7206870 BEND3P2 BEN domain containing 3 pseudogene 2 9 q22.31 94933513 94935776 + 392368 ABBA01018582;AL136097;AMYH01021508;NG_011923 pseudo 45015 INFERRED 7206903 BEND3P3 BEN domain containing 3 pseudogene 3 10 q22.3 81442731 81448653 + 16344560 650623 ABBA01020204;AC068139;AL132656;AL603703;AMYH01002862;BX248123;DA227741;DN994631;NR_027512 Hs.730022 1698412 RH102748 pseudo 45016 PROVISIONAL 1350095 BEND2 BEN domain containing 2 This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X p22.13 22300374 22358874 - 18090972 18148924 - 18181051 18239024 - 737633 12477932 16713569;15772651;15489334;19455595;21832049 139105 B3KXX8;Q8NDZ0 ABBA01071613;ABBA01071614;ABBA01071615;AK128155;AL096763;AMYH01022120;BC037301;BC096745;BX952865;CH471074;NG_021323;NM_001184767;NM_153346;Z92547 AAH37301;AAH96745;ABM83396;ABM86609;BAG54640;EAW98936;NP_001171696;NP_699177;Q8NDZ0 Hs.403802 CXorf20;MGC33653 BEN domain-containing protein 2;OTTHUMP00000022999 APPROVED protein-coding ENSG00000177324 28509 06646 VALIDATED 731027 BDNF brain-derived neurotrophic factor The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009] 11 11 p13 27633016 27699872 - 27676440 27743605 - 631710;1331525;734643;734644;1580863;1300048;4891135;4891140;4891064;4891067;4891069;4891117;4891121;4891138;4891066;4891113;4891125;4891111;4891131;4891112;4891116;4891122;4891123;4891136;4891137;4891119;4891139;4891110;4891127;4891134;4891063;4891129;4891132;5144117;5508228;5684920;5684910;5684922;5684912;5684915;6480464;5684923;6907045;7240710 1889806;15118671;11840487;12836135;20554625;20223282;19958603;17584309;17317133;19895626;12917229;20417695;19203225;15821016;19366663;16186425;20646587;16022868;20464992;12752594;11737043;20544832;20452292;16061712;20227453;16315781;20920483;20557422;20874832;20818776;20600205;18266897;18780967;16141791;20079809;11360665;19686240;20656764;22097208 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627 E9PMP3;Q6YNR1;Q9BYY7 AB038670;AB038671;AB038672;AB038673;AB038674;ABBA01060968;AC103796;AC104563;AF400438;AF411339;AK289763;AK289853;AMYH01003456;AMYH01003457;AY011481;AY054392;AY054393;AY054394;AY054395;AY054396;AY054397;AY054398;AY054399;AY054400;AY054406;AY442188;AY656701;BC029795;CH471064;CX751420;DQ250642;EF674517;EF674518;EF674519;EF674520;EF674521;EF689009;EF689010;EF689011;EF689012;EF689013;EF689014;EF689015;EF689016;EF689017;EF689018;EF689019;EF689020;EF689021;M37762;M61176;M61181;NG_011794;NM_001143805;NM_001143806;NM_001143807;NM_001143808;NM_001143809;NM_001143810;NM_001143811;NM_001143812;NM_001143813;NM_001143814;NM_001143816;NM_001709;NM_170731;NM_170732;NM_170733;NM_170734;NM_170735;X60201;X60202;X91251 AAA51820;AAA69805;AAA96140;AAG47514;AAH29795;AAK92487;AAL23557;AAL23558;AAL23559;AAL23560;AAL23561;AAL23562;AAL23563;AAL23564;AAL23565;AAL23571;AAO15434;AAR14686;AAT74399;ABB51155;ABM81737;ABM84892;ABS29021;ABS29022;ABS29023;ABS29024;ABS29025;ABS32249;ABS32250;ABS32251;ABS32252;ABS32253;ABS32254;ABS32255;ABS32256;ABS32257;ABS32258;ABS32259;ABS32260;ABS32261;BAB55545;BAB55546;BAB55547;BAB55548;BAB55549;BAF82452;BAF82542;CAA42761;CAA62632;EAW68274;EAW68275;EAW68276;EAW68277;EAW68278;EAW68279;NP_001137277;NP_001137278;NP_001137279;NP_001137280;NP_001137281;NP_001137282;NP_001137283;NP_001137284;NP_001137285;NP_001137286;NP_001137288;NP_001700;NP_733927;NP_733928;NP_733929;NP_733930;NP_733931;P23560 Hs.502182 1336800;1731571;1737071;1742497;1774978;1790321;1797316;2144667 BDNF;BDNF-1;BDNF_2411;D11S1270;D11S2825;D11S4115;D11S4429;GDB:197571 ANON2;BULN2;MGC34632 OTTHUMP00000232005;OTTHUMP00000232006;OTTHUMP00000232013;OTTHUMP00000232014;OTTHUMP00000232015;OTTHUMP00000232016;OTTHUMP00000232018;OTTHUMP00000232019;OTTHUMP00000232020;OTTHUMP00000232021;OTTHUMP00000232022;OTTHUMP00000232039;OTTHUMP00000232040;OTTHUMP00000232041;OTTHUMP00000232043;abrineurin;brain-derived neurotrophic factor;neurotrophin APPROVED protein-coding ENSG00000176697 1033 00214 113505;164230;209880;607499;610269 REVIEWED 4144982 BEAN1 brain expressed, associated with NEDD4, 1 The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 16 16 16 q21 50966717 51023308 + 65018120 65074249 + 66461200 66527432 + 6480464 11042109;12477932;14702039;19878914;8619474;8889548;9110174;20723845;21163552;21921537;22049201;19953087 146227 H3BRW1;J3KRN6;Q3B7T3 AB472390;AB472391;AB472392;AB472393;AB472394;AB472395;AB472396;AB472398;AB472399;ABBA01025406;ABBA01025407;ABBA01025408;AC010542;AC132186;AF070610;AK056142;AMYH01007738;AMYH01007739;BC000818;BC105723;BC105724;BC107477;BM666201;CH471092;NG_021403;NM_001136106;NM_001178020;NM_001197224;NM_001197225 AAI07478;BAG51632;EAW83011;NP_001129578;NP_001171491;NP_001184153;NP_001184154;Q3B7T3 Hs.740218;Hs.740219;Hs.97805 1686462;1738493;2142447 D16S2688;RH92071;SHGC-60691 BEAN;SCA31 brain-expressed protein associating with Nedd4 homolog;protein BEAN;protein BEAN1 APPROVED protein-coding ENSG00000166546 24160 612051 REVIEWED 1347685 BEND3 BEN domain containing 3 6 6 6 q21 108134718 108184092 - 107493078 107527182 - 107386385 107435636 - 6480464 12477932;10997877;19615732;22990118;17000644;21914818;19471022;21549307;21693764;22242598;22586326;21252943 57673 Q5T5X7 AB046773;ABBA01026181;ABBA01026182;AK026996;AL355586;AMYH01016569;BC131628;NM_001080450 AAI31629;BAB13379;NP_001073919;Q5T5X7 Hs.418045 1678499;1744345;1770682;1770684;5038476 A005Y28;D3S3992;G20599;GDB:451760;RH27230 KIAA1553;RP11-59I9.2 BEN domain-containing protein 3;OTTHUMP00000016928 protein-coding ENSG00000178409 23040 VALIDATED 733440 BECN1 beclin 1, autophagy related Beclin-1 participates in the regulation of autophagy and has an important role in development, tumorigenesis, and neurodegeneration (Zhong et al., 2009 [PubMed 19270693]).[supplied by OMIM, Jul 2010] 17 17 q21 38215678 38229807 - 40962150 40976310 - 634559;1580863;1643194;1643198;1643329;4889529;6480464;6483317;6483074;6483077;6483070;6483094;6483068;6483098;6483072;6483316;6483066;6483048;6483100;6483050;6483046;6483314;6483081;6483101;6483057;6483076;6483096;6483102;6483312;6483313;6483069;6483054;6907045 9765397;16697404;17665967;15325588;20034776;20187128;21270095;20823696;21490676;19574998;21926933;18500386;21478185;21592995;22001349;22476098;21806471;22449108;22521819;16874043;20539009;18497889;22227058;20838925;19138675;20863706;19864570;17936001;21866636;22306244 19375507;19347031;19325567;19318089;19298604;19289499;19180116;19060920;19050071;18843052;18829541;18797192;18769161;18641390;18628207;18552835;18497881;18184403;18005679;17999086;17786023;17659302;17643073;17595761;17589504;17550384;17446862;17438366;17337444;17272502;17203225;16874027;16857678;16718815;16713569;16522639;16390869;16267277;15922724;15489334;14970205;14966907;12477932;12372286;11564866;11309306;11306555;10604474;10395800;8125298;7829101;20037818;22248718;22310240;7490091;19270693;19713971;20639699;20473282;20150769;20190558;19798108;20559548;20638385;20562859;20842118;20207475;20697744;19921231;20643123;17236580;17355787;17441324;17441338;18184459;19066461;19130303;19145109;19218137;19270696;19372752;19395874;19520853;19535901;19535919;19556884;19641499;19680556;19762066;19778902;20004946;20009549;20010695;20023428;20090905;20206246;20230646;16417406;20937944;21209283;21353614;20368806;20454448;21239722;22805532;22933281;21444671;21203962;20889974;21420796;21962518;21537144;22648564;21729531;19298526;21327823;21543763;21769915;21936852;20501938;21499230;21711108;21722286;21556768;21890473;21906983;22039439;22314358;22095667;21777947;21779982;21861179;22147978;22493499;22242123;22240664;21875280;22301112;22393062;21610315;21646862;21654208;21750416;22157765;21081164;21873141;22081109;22627130;22742832;22392728;22674982;22875631;23197835;22286270;23264393;23337876;22733132;23225331;23334926;23184933;22650021;22797916;23089287;23316280;23564079;23029344;20921139;21358617;22498477;19635843;21976705;22174682;22335943;23112296;21681342 8678 E7EV84;K7EKK2;K7EL88;K7ELY9;K7EMA2;K7EN35;K7EPZ0;K7EQQ7;K7ER46;K7ERY0;K7ES83;K7ESG3;Q14457 ABBA01006406;ABBA01006407;AC016889;AF077301;AF139131;AK223411;AK298619;AK299616;AK312651;AMYH01008398;BC010276;BI496049;BX647788;CH471152;DC296896;L38932;NM_003766 AAB59573;AAC68653;AAD27650;AAH10276;ABM82559;ABM85749;BAD97131;BAG35534;BAG60798;BAG61544;EAW60888;EAW60889;EAW60890;NP_003757;Q14457 Hs.716464 1654805;1659134;2122816;2122818;2145305;2162511;2185825 A005R43;G20453;RH17649;RH48446;RH48640;STS-U17909;WI-11793 ATG6;VPS30;beclin1 ATG6 autophagy related 6 homolog;beclin 1 (coiled-coil, moesin-like BCL2 interacting protein);beclin 1 (coiled-coil, moesin-like BCL2-interacting protein);beclin 1 (coiled-coil, myosin-like bcl2-interacting protein);beclin-1;coiled-coil myosin-like BCL2-interacting protein APPROVED protein-coding ENSG00000126581 1034 05087 604378 VALIDATED 1605502 BEND4 BEN domain containing 4 4 4 4 p13 42560029 42602526 - 41807714 41849652 - 42112870 42154895 - 6480464 14702039;12477932 389206 Q6ZU67 AA757195;AB126828;AB126829;ABBA01014283;ABBA01014284;ABBA01014285;AC111006;AK092951;AK125953;AMYH01014134;BC128592;BC128593;CH471069;NM_001159547;NM_207406 AAI28593;AAI28594;AAI46594;AAI48434;BAC86359;BAD93191;BAD93192;EAW93001;NP_001153019;NP_997289;Q6ZU67 Hs.120591 1717233 RH122031 CCDC4;FLJ35632;FLJ43965;MGC157807;MGC157808 BEN domain-containing protein 4;OTTHUMP00000218402;OTTHUMP00000218403;OTTHUMP00000218405;OTTHUMP00000218406;coiled-coil domain containing 4;coiled-coil domain-containing protein 4 protein-coding ENSG00000188848 23815 13481 VALIDATED 731845 BEGAIN brain-enriched guanylate kinase-associated 14 14 14 q32.2 81058597 81067990 - 100073240 100105884 - 101003484 101036131 - 6480464 16189514;18029348;17081983;16964243;16713569;15489334;12477932;10819331;12097487;9756850;21102462;21832049;20360068;21906983 57596 G3V2K4;G3V3A2;G3V3R5;G3V3S3;G3V536;G3V600;Q9BUH8 AB040879;ABBA01048525;ABBA01048526;AL390162;AL845552;AMYH01006010;BC002607;BG333264;CH471061;NM_001159531;NM_020836 AAH02607;ACE87027;ACE87713;BAA95970;CAB99094;EAW81707;EAW81708;NP_001153003;NP_065887;Q9BUH8 Hs.211751 1666246 STS-AA021302 KIAA1446 OTTHUMP00000246549;OTTHUMP00000246550;OTTHUMP00000246551;OTTHUMP00000246552;OTTHUMP00000246553;OTTHUMP00000246554;OTTHUMP00000246555;brain-enriched guanylate kinase-associated homolog;brain-enriched guanylate kinase-associated protein APPROVED protein-coding ENSG00000183092 24163 06459 VALIDATED 1321272 BEND6 BEN domain containing 6 6 6 6 p12.1 58482926 58555295 + 56927732 57000103 + 56819773 56892144 + 6480464 14702039;12477932 221336 Q5SZJ8;Q5SZK0 ABBA01050487;ABBA01050488;AI803591;AK054724;AK303705;AK315926;AL450489;AL590037;AMYH01016369;BC022988;BC036119;CH471081;DC411761;NM_152731 AAH22988;AAH36119;BAB70799;BAH14024;BAH14297;EAX04469;NP_689944;Q5SZJ8 Hs.582993 1672080;1679197;1685952;1743231;5092884 G11929;G32391;GDB:306287;RH67080;RH94322 C6orf65;FLJ30162;bA203B9.1 BEN domain-containing protein 6;OTTHUMP00000016659;OTTHUMP00000016661 protein-coding ENSG00000151917 20871 12893 VALIDATED 1606228 BEND5 BEN domain containing 5 1 1 1 p33 47479547 47528540 - 48966129 49015090 - 49193539 49242547 - 6480464 14702039;12477932;8889548;16189514;15489334;17207965;16169070;16713569;21832049 79656 Q7L4P6 ABBA01050796;AC097062;AK021650;AK055449;AMYH01000600;BC007932;BC011804;BQ006447;BU743157;CH471059;HI574312;NM_024603 AAH07932;AAH11804;ADQ32714;BAB13864;BAG51519;CBX47645;EAX06848;EAX06849;EAX06850;EAX06851;EAX06852;NP_078879;Q7L4P6 Hs.475348 1337883;1724773;1781452;2116701 D1S2724;RH122593;SHGC-112093;SHGC-74765 C1orf165;FLJ11588 BEN domain-containing protein 5;OTTHUMP00000009852 protein-coding 25668 VALIDATED 1313368 BEST2 bestrophin 2 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12753118 12758983 + 12724407 12730272 + 12863407 12869272 + 1580863;6480464 8125298;16912113;14702039;12907679;12477932;12032738;11904445;9700209;19237432;19398034;20157619;20407206;22360420 54831 H0YIH1;Q8NFU1 ABBA01029774;AC018761;AF440756;AK000139;AK225232;AMYH01009495;AY515705;CH471106;NM_017682 AAM76995;AAR99655;BAA90970;EAW84304;NP_060152;Q8NFU1 Hs.435611 FLJ20132;VMD2L1 OTTHUMP00000240705;OTTHUMP00000240706;VMD2-like gene 1;bestrophin-2;vitelliform macular dystrophy 2-like 1;vitelliform macular dystrophy 2-like protein 1 APPROVED protein-coding ENSG00000039987 17107 607335 REVIEWED 1314203 BEND7 BEN domain containing 7 10 10 10 p13 13407599 13472089 - 13520490 13584982 - 13480484 13544976 - 6480464 16189514;15489334;15164054;14702039;12477932;16385451;19060904;23382691 222389 E5RFC0;Q8N7W2 ABBA01034626;AK097602;AL359172;AL590677;AL832195;AMYH01002043;BC029597;BC031618;CH471072;NM_001100912;NM_152751 AAH31618;BAC05114;EAW86285;EAW86286;EAW86287;EAW86288;NP_001094382;NP_689964;Q8N7W2 Hs.498740 1666193;1668484;1704776;1704850;1755919;1763229;5014051;5015619;5022200 D11S3114;D8S2278;L18426;RH47609;SHGC-142750;SHGC-146959;SHGC-79854;SHGC-79899;STS-W15426 C10orf30;FLJ40283;MGC35247 BEN domain-containing protein 7;OTTHUMP00000019143;OTTHUMP00000019144 protein-coding ENSG00000165626 23514 12570 VALIDATED 1343861 BEVI baboon M7 virus integration site 628 1035 1344321 BEST4 bestrophin 4 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008] 1 1 1 p33-p32.3 43532138 43536307 - 45021844 45026013 - 45249257 45253426 - 1580863 16710414;16702355;15489334;12907679;12477932;12032738;9700209;19237432 266675 Q8NFU0 ABBA01050909;AF440757;AL592166;AMYH01000567;AY515707;BC101823;BM142321;CH471059;NM_153274 AAI01824;AAM76996;AAR99657;EAX07022;NP_695006;Q8NFU0 Hs.302513 MGC126872;VMD2L2 OTTHUMP00000010157;bestrophin-4;vitelliform macular dystrophy 2-like 2;vitelliform macular dystrophy 2-like protein 2 APPROVED protein-coding ENSG00000142959 17106 09549 607336 REVIEWED 1323228 BEST1 bestrophin 1 This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] 11 11 q13 61474408 61488981 + 61717356 61731935 + 1599738;1580863;6480464;7240710 9662395 21330666;17003041;21192766;11050159;10737974;19597114;19398034;19375515;19372599;19357557;19262692;19029375;18849347;18766995;18414923;18400985;18222922;18179881;17698758;17646752;17591911;17468957;17361457;17287362;17110374;17065513;16885924;16769844;16754206;16707793;16612637;15808248;15556645;15489334;15452077;15176385;14982938;13129869;12907679;12477932;12324875;12187431;12107410;12058047;12032738;11913792;11904445;11449320;11271465;11241846;10854112;10798642;10766140;10682987;10453731;10394929;10331951;9700209;9679014;9445487;1395087;1302019;838599;22633354;21293734;21072067;18611979;19237432;19635817;19823864;19853238;20057903;20057343;20381869;20801516;20375334;22584882;20349192;20530484;20301346;21203346;21077756;21273940;21320969;20238019;21498618;21269699;21436265;22448417;21559412;21109774;21467170;22162627;21738390;21473666;21921978;22183384;22183385;22174098;23213274;23290749;22675492;22199244;22422030;21829377;20301590;21809908 7439 B7Z1N8;B7Z375;E9PMB5;G8JLA7;O76090 AB209451;ABBA01003208;AF057169;AF057170;AF073500;AF073501;AK289681;AK293701;AK294577;AK295450;AK295580;AK295838;AK295998;AK298747;AK301392;AK309076;AMYH01003685;AP003733;AY515704;BC015220;BC041664;CA388926;CH471076;JQ954696;NG_009033;NM_001139443;NM_004183 AAC33766;AAC64343;AAC64344;AAC64926;AAH15220;AAH41664;AAR99654;AFR11385;BAD92688;BAF82370;BAH11574;BAH11817;BAH12072;BAH12111;BAH12198;BAH12234;BAH12865;BAH13472;EAW73982;EAW73983;EAW73984;EAW73985;EAW73986;EAW73987;EAW73988;NP_001132915;NP_004174;O76090 Hs.524910;Hs.712676 1849750;1855697;2178702;5015861;5017170;5023353;5109281;5109777;5118576;7185938 D10S16;D11S3430;D11S3983;D1S1425;D1S2060E;D8S467;L29953;STS-L20941;WI-15952 ARB;BEST;BMD;RP50;TU15B;VMD2 Best disease;Best1V1Delta2;OTTHUMP00000235994;OTTHUMP00000235998;OTTHUMP00000235999;OTTHUMP00000236000;bestrophin-1;vitelliform macular dystrophy (best disease, bestrophin);vitelliform macular dystrophy protein 2 APPROVED protein-coding ENSG00000167995 12703 01094 153700;193220;607854;608161;611809;613194 REVIEWED 1313470 BEST3 bestrophin 3 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008] 12 12 12 q14.2-q15 69711071 69756899 - 68333656 68379463 - 70047389 70093196 - 1580863;6480464 17442670;15489334;14702039;12907679;12477932;12032738;9700209;19237432;22863734 144453 E9PNM2;F8VR37;F8VVX2;F8VVZ2;F8VZR0;Q8N1M1 ABBA01026536;ABBA01026537;AC025263;AF440758;AK096459;AMYH01004567;AY515706;BC006440;BC028087;BC151138;CH471054;NM_032735;NM_152439 AAH06440;AAI66663;AAM76997;AAR99656;BAC04797;EAW97234;NP_116124;NP_689652;Q8N1M1 Hs.280782 1678521;1698504;1715433;2117248;2125860;2125862;2141358;2147038;2185018;5019807 A009W40;D12S1816;G32926;RH102802;RH120549;RH44577;RH44642;RH93788;SHGC-33073;SHGC-34028 MGC13168;MGC40411;VMD2L3 OTTHUMP00000195114;OTTHUMP00000233491;OTTHUMP00000240995;OTTHUMP00000240996;bestrophin-3;vitelliform macular dystrophy 2-like 3;vitelliform macular dystrophy 2-like protein 3 APPROVED protein-coding ENSG00000127325 17105 17484 607337 VALIDATED 1352390 BEX4 brain expressed, X-linked 4 This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] X X X q22.1-q22.3 102909028 102911131 + 102356708 102358779 + 102470020 102472128 + 737633;1580863;6480464 12477932 15958283;15772651;14702039;21139048;21890473 56271 Q9NWD9 ABBA01021024;AI199874;AK000959;AL035494;AL544124;AMYH01022797;AV726729;AY833563;BC015794;BC068069;CH471190;NG_021339;NM_001080425;NM_001127688 AAI48485;AAI56671;AAX40681;BAA91443;EAW54719;NP_001073894;NP_001121160;Q9NWD9 Hs.184736 1690762;2115841 RH46879;RH80982 BEXL1;FLJ10097 BEX family member 4;BEX1-like protein 1;OTTHUMP00000023728;OTTHUMP00000023729;brain expressed X-linked-like 1;nerve growth factor receptor-associated protein 3;protein BEX4 APPROVED protein-coding ENSG00000102409 25475 300692 REVIEWED 1353223 BEX2 brain expressed X-linked 2 This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22 103003273 103004973 - 102450930 102452601 - 102564274 102565974 - 737633;1580863;6480464 12477932 19412433;17638883;17251904;16818640;16314316;16189514;15958283;15772651;15489334;22698742;12054873;19711341;19835597;20482821;21384344;21890473;22053931;23022184 84707 Q9BXY8 ABBA01021037;AF251053;AK312085;AL133348;AMYH01022797;AY833560;BC015522;BC050651;BI670202;BU569325;BU596902;CB961647;CD365521;CH471190;CK001963;DB498563;NG_016254;NM_001168399;NM_001168400;NM_001168401;NM_032621;Z70233 AAH15522;AAK34943;AAX40678;BAG35021;CAD24039;EAW54715;EAW54716;NP_001161871;NP_001161872;NP_001161873;NP_116010;Q9BXY8 Hs.398989 2174623 WI-15922 BEX1;DJ79P11.1 OTTHUMP00000023734;OTTHUMP00000023735;OTTHUMP00000023736;brain-expressed X-linked protein 2;hBex2;protein BEX2 APPROVED protein-coding ENSG00000133134 30933 06484 300691 REVIEWED 1350233 BFLS Borjeson-Forssman-Lehmann syndrome 7240710 630 1039 301900 732892 BET1 Bet1 golgi vesicular membrane trafficking protein This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q21.1-q22 88319269 88331959 - 93458936 93471626 - 93621000 93633690 - 1580863;6480464 16189514;8621431;17081983;15489334;12853948;12690205;12477932;11323436;10449330;9847074;9382863;9094723;11927603;22773346;22939629;21139048;21890473;21906983;21987572;21963094;23251661 10282 C9JTT8;H7C1N3;O15155;Q53XK0;Q68DU7;Q96EA0 AACC02000014;ABBA01045786;AC006378;AF007551;AK313984;AMYH01017695;BC000899;BC012595;BG721261;BT009853;BX505568;CH236949;CH471091;CR749267;NM_005868 AAB62941;AAD47132;AAH00899;AAH12595;AAP88855;ABM85004;BAG36696;CAH18123;EAL24137;EAW76800;EAW76801;EAW76802;EAW76803;NP_005859;O15155 Hs.489132 1671695;1713659;2114528;2133757;2185115;5022578;5022651;5037552 A004G30;D11S2921;D1S1423;D8S2279;G30358;RH120712;RH18332;RH78705 DKFZp781C0425;HBET1 BET1 homolog;Bet1p homolog;Golgi vesicular membrane trafficking protein p18;OTTHUMP00000163010;OTTHUMP00000208603;OTTHUMP00000208604;OTTHUMP00000208605;OTTHUMP00000208606;blocked early in transport 1 homolog;golgi vesicular membrane-trafficking protein p18 APPROVED protein-coding 14562 16107 605456 REVIEWED 1348519 BEX5 brain expressed, X-linked 5 X X X q22.1 101929239 101931548 - 101295340 101297685 - 101408679 101410986 - 737633;6480464 12477932 18236150;15958283;15772651;15489334 340542 Q5H9J7 ABBA01045059;AI985090;AMYH01022737;AY833564;BC042818;BC092450;BC106955;CH471115;NM_001012978;NM_001159560;Z70719 AAH42818;AAH92450;AAI06956;AAX40682;EAX02903;NP_001012996;NP_001153032;Q5H9J7 Hs.47209 1648127 SHGC-37409 MGC104434;MGC126446;NGFRAP1L1 BEX family member 5;NGFRAP1-like 1;NGFRAP1-like protein 1;OTTHUMP00000023705;brain-expressed X-linked protein 5;nerve growth factor receptor-associated protein 2;protein BEX5 protein-coding ENSG00000184515 27990 18484 300693 VALIDATED 1343764 BEX1 brain expressed, X-linked 1 X X X q22.1 102756620 102758207 - 102204237 102205824 - 102317581 102319168 - 1580863;6480464 19028701;16818640;15958283;15920485;15772651;15489334;12477932;11989783;12054873;12911636;16498402;16314316;21900206 55859 Q9HBH7 ABBA01021002;AF183416;AF220189;AF237783;AK290958;AL008708;AMYH01022795;AMYH01022796;AY833561;BC018615;BC105298;BC126427;BC126429;BM465948;BX098763;CH471190;NM_018476 AAF67654;AAG09685;AAG09752;AAI26428;AAI26430;AAX40679;ADR83467;BAF83647;EAW54723;NP_060946;Q9HBH7 Hs.334370 2171059;5123915;5493829 RH18267;UniSTS:495179;WI-11354 BEX2;HBEX2;HGR74-h OTTHUMP00000024309;brain-expressed X-linked protein 1;ovarian granulosa cell 13.0 kDa protein hGR74;protein BEX1 protein-coding ENSG00000133169 1036 06460 300690 VALIDATED 1342888 BET3L BET3 like (S. cerevisiae) 6 6 6 q22.1 117560713 117609844 - 116924445 116973466 - 116817646 116866773 - 15489334;14702039;14574404;12477932;20379614;21525244 100128327 Q5T215 ABBA01026045;ABBA01026046;AI090359;AI745276;AK002042;AL121953;AL445224;AMYH01016617;BC127757;BC127758;BE501784;BX280366;DY655209;NM_001139444 AAI27758;AAI27759;NP_001132916;Q5T215 Hs.134795 1685057;2126919 RH94021;SHGC-54632 FLJ11180;TRAPPC3L;bA259P20.2 BET3-like protein;OTTHUMP00000017064;OTTHUMP00000040368;TRAPPC3-like protein;trafficking protein particle complex subunit 3-like protein protein-coding ENSG00000173626 21090 614137 VALIDATED 1602713 BET1L Bet1 golgi vesicular membrane trafficking protein-like 11 11 11 p15.5 351440 355953 + 192924 197422 - 202924 207422 - 6480464 15215310;16344560;15489334;15004235;14702039;12477932;12388752;11927603;11323436;11181995;11042152;9242691;9110174;8619474;21460842;19820697;21832049;18029348;21906983;22286173;22318606;21963094;21988832;22504420 51272 B8ZZS0;E9PHY4;E9PQJ6;H7BXT7;Q9NYM9 ABBA01011167;AC069287;AF151031;AF234160;AK022958;AK314273;AL833842;AMYH01003275;AY007148;BC000688;BC008971;BC016945;BC018839;BC032779;BC064025;CH471278;DA875317;DA880679;NM_001098787;NM_016526 AAF36117;AAF37877;AAG02004;AAH08971;AAH32779;ACE86980;ACE87669;BAG51142;NP_001092257;NP_057610;Q9NYM9 Hs.414418 2117080 RH16003 BET1L1;GOLIM3;GS15;HSPC197 BET1-like protein;GOS-15;OTTHUMP00000147612;OTTHUMP00000147613;OTTHUMP00000228523;OTTHUMP00000228524;OTTHUMP00000228525;blocked early in transport 1 homolog (S. cerevisiae)-like;blocked early in transport 1 homolog-like;golgi SNARE 15 kDa protein;golgi SNARE with a size of 15 kDa;golgi integral membrane protein 3;vesicle transport protein GOS15 APPROVED protein-coding ENSG00000177951 19348 16547 VALIDATED 2302834 BHLHA9 basic helix-loop-helix family, member a9 17 17 17 p13.3 1187225 1187932 + 1120101 1121382 + 1173858 1174565 + 22147889;18557763;14516699;12617822;23035971 727857 Q7RTU4 ABBA01054652;ABBA01054653;AC032044;AC144836;AMYH01007990;BK000140;NM_001164405 DAA00302;NP_001157877;Q7RTU4 Hs.723790 BHLHF42 OTTHUMP00000163050;class A basic helix-loop-helix protein 9;class F basic helix-loop-helix factor 42;class II basic helix-loop-helix protein protein-coding 35126 PROVISIONAL 737302 BFSP1 beaded filament structural protein 1, filensin This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 p12.1 17422550 17459974 - 17474550 17539605 - 1580863;6480464;7240710 9628810;17225135;12477932;11780052;10909854;9787085;7781747;7720401;7679620;7615661;7504675;1918147;1478967;21145461;18029348 631 B7Z999;F5H0G1;Q12934 ABBA01054022;ABBA01054023;ABBA01054024;AC010083;AF039655;AK304673;AK316247;AL031664;AL132765;AMYH01011737;BC041483;BF727338;BQ230198;CH471133;NG_012423;NM_001161705;NM_001195;NM_001278606;NM_001278607;NM_001278608;U12622;Y16717;Y16718;Y16723 AAA74423;AAB94939;AAH41483;BAH14235;BAH14618;CAA76348;CAA76349;EAX10277;EAX10278;NP_001155177;NP_001186;NP_001265535;NP_001265536;NP_001265537;Q12934 Hs.129702 CP115;CP94;CTRCT33;LIFL-H OTTHUMP00000030329;OTTHUMP00000062713;beaded filament structural protein 1;cytoskeletal protein, 115 KD;filensin;lens fiber cell beaded-filament structural protein CP 115;lens intermediate filament-like heavy APPROVED protein-coding ENSG00000125864 1040 04494 603307;611391 REVIEWED 619567 BGLAP bone gamma-carboxyglutamate (gla) protein 1 1 q22 154478629 154479736 + 156211951 156213123 + 1580863;2316184;6480464;6483581;6483557;6483566;6483579;6483580;6483549;6483561;6483542;6484113;6483568;6483578;6483546;6483593;6483595;6483600;6483321;6483563;6483594;6483599;6483552;7207412;7207422;7207408;7207232;7207414;7207224;7207424;7207225;7205481;7207229;7207235;7207248;7207410;7207231;7207409;7207419 19494718;2106357;7920889;20197689;15108065;12565780;21406003;3105848;22120694;16622660;21482072;22447331;21387139;3488088;22535626;22294259;21760737;20157712;21550389;12674322;9661594;21908029;21041817;12376805;16114020;9347246;12697366;22989431;22573557;20845051;19641839;15747054;21784896;17365904;9850345 22034088;17252541;17242729;17000892;16735944;16412323;16387359;16263577;15753298;15562030;15502821;15108070;12879219;12843190;12674332;12477932;12393937;12270142;12145306;12112004;11979972;11918225;11574953;11396736;11199188;10419538;10393081;9076588;7768973;6967872;3019668;10486212;12467198;12202187;11856645;17023519;10865224;19453261;19136823;19088165;18657532;18551993;18496130;18321663;18285546;18171674;18163903;17889845;17627084;17254772;21169728;21713451;2785029;2394711;2336375;15949438;20395593;21301010;20501596;19063687;19732762;19751416;19751417;19767102;19856264;19877133;20200947;20305683;20355242;20410230;20433876;19595020;20221651;20831864;20587710;20139978;20592451;20574675;19031822;21333348;21425331;20694489;21427224;20577791;20562864;22842327;22517558;22773701;21292339;21353261;21558934;20625700;21178793;21153019;21521304;21521333;21590731;22068385;22615158;21487672;22068892;22102412;21964930;22652825;21968268;21935388;21944272;22219025;22679141;23135318;23553865;23162093;22577088;22735266;18160010;22136751;22752126;23261860;23386651;23137636 632 P02818 ABBA01016665;AL135927;AMYH01001436;BC113432;BC113434;BU622466;CA428336;CH471121;CS025626;CS185557;DQ007079;HD117875;HH735900;NM_199173;X04143;X51699;X53698 AAI13433;AAI13435;AAY16981;ADR82791;CAA27763;CAA35996;CAA37736;CAI61690;CAJ42738;CBW53724;CBX74359;EAW52986;NP_954642;P02818 Hs.654541 1794720;1857036;2113674;2120254;2127136;2150829;5493377 A003B36;AB055289;PMC351321P3;RH11125;RH12024;STS-X04143;UniSTS:485876 BGP;OC;OCN;PMF1 OTTHUMP00000016586;bone Gla protein;bone gamma-carboxyglutamate (gla) protein (osteocalcin);gamma-carboxyglutamic acid-containing protein;osteocalcin protein-coding 1043 00205 112260 VALIDATED 1312438 BFAR bifunctional apoptosis regulator 16 16 16 p13.12 14903443 14939870 + 14634297 14670209 + 14726668 14763093 + 1580863;6480464 10716992;18805781;15489334;14502241;12477932;22566094;19549727;19690564;20523265;21068390;21890473;21906983 51283 B4DUT0;H3BMP2;H3BMY8;H3BPQ8;H3BRQ5;H3BSU2;H3BTG6;H3BUB3;Q9NZS9 ABBA01006895;ABBA01006896;AC009167;AF173003;AK291114;AK297067;AK300778;AK313890;AMYH01007181;BC003054;BI912683;BU621058;CH471112;NM_016561 AAF59975;AAH03054;ABM81574;ABM84754;BAF83803;BAG36613;BAG59588;BAG62442;EAW85105;EAW85106;EAW85107;EAW85108;EAW85109;NP_057645;Q9NZS9 Hs.435556 2120376;2128057;2143871;2164606 D16S2565E;RH48705;SHGC-61074;STS-M78938 BAR;RNF47 OTTHUMP00000160285;RING finger protein 47;bifunctional apoptosis inhibitor;bifunctional apoptosis regulator protein-coding ENSG00000103429 17613 16548 VALIDATED 1347093 BFSP2 beaded filament structural protein 2, phakinin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] 3 3 q22.1 134601480 134676746 + 133118790 133194056 + 1600516;1580863;6480464;7240710 10729115 9628810;18958306;17982427;17200662;15570218;15489334;12477932;10753642;10739768;8889548;8636093;7720401;7504675;18029348;21836522 8419 Q13515 ABBA01059169;ABBA01059170;ABBA01059171;ABBA01059172;AC022296;AC055753;AF195044;AMYH01013509;AMYH01013510;BC113518;BC113520;BM667774;BM696370;CH471052;GN344037;NG_012425;NM_003571;U12621;U48224 AAC50414;AAG30728;AAI13519;AAI13521;ADR83175;CAY55954;EAW79178;EAW79179;NP_003562;Q13515 Hs.659862 1725389;1727413;2148762;2154950 G63114;RH119012;RH70648;STS-N29638 CP47;CP49;CTRCT12;LIFL-L;MGC142078;MGC142080;PHAKOSIN 49 kDa cytoskeletal protein;OTTHUMP00000216298;beaded filament protein CP49;bfps2, Cytoskeletal protein, 49-kD;lens fiber cell beaded filament protein CP 47;lens fiber cell beaded filament protein CP 49;lens intermediate filament-like light;phakinin APPROVED protein-coding ENSG00000170819 1041 04444 603212;611597 REVIEWED 6908992 BHLHE40-AS1 BHLHE40 antisense RNA 1 3 p26 4939910 4948186 - 14702039 100507582 ABBA01020465;ABBA01020466;AC018816;AK056892;AK311159;AK311646;AMYH01012948;NR_037903 Hs.434505 5020948;5022200;5022588 D5S1597E;G35510;L18426 miscrna ENSG00000235831 44471 VALIDATED 737550 BHLHA15 basic helix-loop-helix family, member a15 7 7 7 q21.3 92535465 92536170 + 97679502 97680207 + 97841566 97842271 + 6480464;6907045 18557763;16645041;15489334;14516699;12853948;12690205;12617822;12477932;9482738;9073453;20038531;20382342;20709804;21098683;21907708;22354994;22374815;22495370 168620 Q7RTS1 AACC02000085;ABBA01045734;AC091654;AMYH01017711;BC113394;BC113396;BK000276;CH236956;NM_177455 AAI13395;AAI13397;DAA01056;EAL23893;NP_803238;Q7RTS1 Hs.674510 5493017 UniSTS:483772 BHLHB8;MIST1 MIST-1;OTTHUMP00000205455;basic helix-loop-helix domain containing, class B, 8;class A basic helix-loop-helix protein 15;class B basic helix-loop-helix protein 8;class II bHLH protein MIST1;muscle, intestine and stomach expression 1 protein-coding ENSG00000180535 22265 16356 608606 VALIDATED 1346145 BHLHE23 basic helix-loop-helix family, member e23 This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013] 20 20 20 q13.33 58313980 58315036 - 61107846 61108787 - 61637331 61638387 - 14516699;18557763;12617822;12477932;12136098;11863370;11780052;15363390 128408 Q8NDY6 ABBA01021378;AJ328944;AL121673;AMYH01012069;BC137288;BC137308;BK000274;CH471077;NM_080606 AAI37289;AAI37309;DAA01054;EAW75311;EAW75312;NP_542173;Q8NDY6 Hs.551230 BETA4;BHLHB4;bA305P22.3 OTTHUMP00000031526;basic helix-loop-helix domain containing, class B, 4;class B basic helix-loop-helix protein 4;class E basic helix-loop-helix protein 23 APPROVED protein-coding ENSG00000125533 16093 16550 609331 REVIEWED 1313486 BHLHE22 basic helix-loop-helix family, member e22 BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 [PubMed 12213201]).[supplied by OMIM, Jul 2010] 8 8 8 q13 61482821 61486193 + 65655368 65658740 + 65492795 65496191 + 1580863;6480464 18557763;14702039;14516699;12617822;12477932;12213201;9225980 27319 B4DF88;Q8NFJ8 AA927689;ABBA01041852;AC090136;AF504925;AI867692;AI968349;AK091333;AK293979;AMYH01018764;AW206610;BC033056;BC045748;BK000273;CH471068;NM_152414 AAI56672;AAM28881;BAG57349;DAA01053;EAW86876;NP_689627;Q8NFJ8 Hs.388788;Hs.591870;Hs.743680 1739361;1797322;2177326;2177328;2177330;5493801 BHLHB5_2248;D8S1572E;RH47310;RH77917;RH77918;UniSTS:494896 BHLHB5;Beta3;CAGL85;TNRC20 OTTHUMP00000226588;basic helix-loop-helix domain containing, class B, 5;class B basic helix-loop-helix protein 5;class E basic helix-loop-helix protein 22;trinucleotide repeat containing 20;trinucleotide repeat-containing gene 20 protein APPROVED protein-coding ENSG00000180828 11963 16551 613483 VALIDATED 1347976 BHLHB9 basic helix-loop-helix domain containing, class B, 9 This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q23 102414680 102446406 + 101862310 101894024 + 101975642 102007369 + 1303981;1580863;6480464 15034937 16344560;12477932;11214970;9110174;8619474;21832049;21139048;21890473 80823 Q6PI77 AB051488;ABBA01020964;ABBA01020965;ABBA01020966;ABBA01020967;ABBA01020968;AF035288;AF547055;AL035427;AMYH01022792;BC041409;CH471190;DA104939;DA211842;DA218716;DA326404;DA397309;DA398982;DA494496;DA718424;NG_021340;NM_001142524;NM_001142525;NM_001142526;NM_001142527;NM_001142528;NM_001142529;NM_001142530;NM_030639 AAH41409;AAQ12077;BAB21792;EAW54726;NP_001135996;NP_001135997;NP_001135998;NP_001135999;NP_001136000;NP_001136001;NP_001136002;NP_085142;Q6PI77 Hs.4276 1659996;1682618;1787252;2184264;5016851 A008N06;DXS7007E;RH78520;RH80031;SHGC-143390 KIAA1701;p60TRP OTTHUMP00000023715;OTTHUMP00000023716;p60-like protein;protein BHLHb9;transcription regulator of 60 kDa APPROVED protein-coding ENSG00000198908 29353 10028 REVIEWED 737524 BGN biglycan The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein plays a role in assembly of collagen fibrils and muscle regeneration. It interacts with several proteins involved in muscular dystrophy, including alpha-dystroglycan, alpha- and gamma-sarcoglycan and collagen VI, and it is critical for the assembly of the dystrophin-associated protein complex. [provided by RefSeq, Nov 2009] X X q28 152413605 152428198 + 152760347 152775004 + 1580863;6480464 1860845;11256614;19453261;18988796;18620607;18602826;18029348;17516017;17269742;17120779;17097211;16989735;16938379;16883602;16807372;16434404;16381901;16344560;16051607;15775969;15546867;15489336;15489334;15372625;15173106;15031262;14702039;12538652;12477932;12387878;12354766;12153565;12140283;12070165;11979972;11723132;11709279;11598131;11259413;11145944;11076863;10854409;10684260;10383378;9880804;9848887;9731537;8440685;8178833;8125298;8093671;8093006;7881444;7852349;7793988;7607653;3597437;2647739;2590169;2059554;1968422;1612609;23007878;18621549;18694824;18701807;19379665;19422643;19502413;19523462;19580379;20382708;20591478;20367117;21397694;22982459;21029365;21969569;21998129;21702857;21185747;22329809;23393390;22374465;21913799;22582394;2212616;22095710;22479366;21879307 633 A6NLG9;C9JKG1;P21810 ABBA01045388;AI538325;AI570205;AK092954;AK093023;AK094059;AK222484;AK223302;AK291955;AK293268;AK293289;AK297966;AK298756;AMYH01023294;AU142113;BC002416;BC004244;BT007323;CH471172;DC299956;DC419932;DC425011;J04599;M65151;M65153;NG_015961;NM_001711;U11686;U82695 AAA36009;AAA52287;AAC50117;AAH02416;AAH04244;AAP35987;ABM82824;ABM86010;BAC04007;BAD96204;BAD97022;BAF84644;BAG52637;BAG52806;BAG56798;BAG56813;BAG60276;BAG60898;CAL37481;CAL38559;EAW72861;EAW72862;EAW72863;EAW72864;EAW72865;NP_001702;P21810 Hs.821 1686740;1702710;1725625;2144807;2152487;2166135;5016946 DXS9901;G28556;G62027;GDB:192507;RH75559;RH91107;STS-M65154 DSPG1;PG-S1;PGI;SLRR1A OTTHUMP00000025928;OTTHUMP00000025930;biglycan;biglycan proteoglycan;bone/cartilage proteoglycan I;bone/cartilage proteoglycan-I;dermatan sulphate proteoglycan I;small leucine-rich protein 1A APPROVED protein-coding ENSG00000182492 1044 02359 301870 REVIEWED 1316665 BICC1 bicaudal C homolog 1 (Drosophila) This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009] 10 10 10 q21.1 53537852 53853737 + 59942910 60258851 + 60272904 60588845 + 6480464 15465627;14702039;11231089;8889548;8125298;16385451;20379614;20516156;21922595;23251661;23322567;23396134 80114 A6NGY7;Q9H694 ABBA01019441;ABBA01019442;ABBA01019443;AC012168;AC012472;AC023170;AK026129;AK225427;AK225429;AK307780;AMYH01002766;AY726586;BM972104;BX538102;CF242850;CH471083;NG_029759;NM_001080512 AAI56901;BAB15369;EAW54176;NP_001073981;Q9H694 Hs.158745 1705556;1779114;1850061;1856757;2172504;2180925 D10S1581;G17501;RH77835;SHGC-37463;SHGC-83883;WI-18264 BICC;CYSRD;DKFZp686I21119 OTTHUMP00000019636;bic-C;protein bicaudal C homolog 1 APPROVED protein-coding 19351 601331;614295 REVIEWED 731061 BHLHE41 basic helix-loop-helix family, member e41 This gene encodes a transcription factor that belongs to the Hairy/Enhancer of Split subfamily of basic helix-loop-helix factors. The encoded protein functions as a transcriptional repressor and as a regulator of molecular clock. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, May 2010] 12 12 p12.1 26164226 26169113 - 26272959 26278003 - 625726;1580863;6480464;6484113 12397359 12624110;11162494;19679812;18557763;18411297;18345027;18228528;18223678;17194498;16287852;12657651;12477932;12354771;11278948;11058868;19913121;20628086;15193144;19839995;20072116;20174623;19029947;17487425;21129405;20821348;21327324;14672706;15560782;19786558;22801492;22572381;21693764;22355045 79365 Q8TAT1;Q9C0J9 AB044088;ABBA01068030;ABBA01068031;AC022509;AJ270695;AK303677;AMYH01004346;AW500664;AY665466;AY665467;BC025968;CH471094;EF015896;NG_012011;NG_021173;NM_030762 AAH25968;AAV54601;AAV54602;ABM64207;BAB21502;BAH14012;EAW96527;EAW96528;NP_110389;Q9C0J9 Hs.177841 1651384;1680851;1699592;1797320 BHLHB3_2085;RH103397;RH80435;STS-R68240 BHLHB3;DEC2;SHARP-1;SHARP1;hDEC2 OTTHUMP00000240318;basic helix-loop-helix domain containing, class B, 3;class E basic helix-loop-helix protein 41;differentially expressed in chondrocytes 2;differentially expressed in chondrocytes protein 2;enhancer-of-split and hairy-related protein 1 APPROVED protein-coding ENSG00000123095 16617 16204 606200;612975 REVIEWED 68659 BHLHE40 basic helix-loop-helix family, member e40 This gene encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is responsive to the addition of Bt2cAMP. The encoded protein is believed to be involved in the control of cell differentiation. [provided by RefSeq, Aug 2008] 3 3 p26 4996208 5001861 + 5021097 5026866 + 625726;1580863;6480464;6484113 12397359 11278694;9240428;18557763;18228528;17376295;16878149;16487626;16344560;16169070;15994878;15719173;17487425;15560782;15489334;15223310;12754744;12624110;12477932;12384505;12354771;12297495;12119049;11688991;11668339;11226878;10449910;20936779;15193144;16136500;16462771;18025081;18345027;18411297;19590847;19693801;20072116;20174623;21528084;18029348;20863812;19913121;20628086;21867633;21829689;21327324;19471022;21693764;21906983;21963094;21987572;21979947;19786558;19322201;14672706;21988832;10737769;17347673;23445622;22678901;22905217 8553 O14503;Q6IB83 AA632164;AB004066;AB043885;ABBA01020463;AC090955;AK293205;AK309173;AK312509;AMYH01012951;BC068292;BC082238;BI962730;CH471055;CR456921;DB144350;EF015895;HI574236;NM_003670 AAH82238;ABM64206;ABZ92197;BAA21720;BAB18565;BAG35410;BAG56745;CAG33202;CBX47607;EAW63916;EAW63917;NP_003661;O14503 Hs.744856 1664307;1735262;1770912;1797318 BHLHB2_2101;D3S2920E;D3S3912;SHGC-37025 BHLHB2;DEC1;FLJ99214;HLHB2;SHARP-2;STRA13;Stra14 OTTHUMP00000147574;basic helix-loop-helix domain containing, class B, 2;basic helix-loop-helix domain containing, class b2;class B basic helix-loop-helix protein 2;class E basic helix-loop-helix protein 40;differentially expressed in chondrocytes 1;differentially expressed in chondrocytes protein 1;differentiated embryo chondrocyte expressed gene 1;enhancer-of-split and hairy-related protein 2;stimulated by retinoic acid gene 13 protein APPROVED protein-coding ENSG00000134107 1046 16050 604256 REVIEWED 1352435 BHMT2 betaine--homocysteine S-methyltransferase 2 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 5 5 5 q13 74258430 74278792 + 78401339 78421045 + 78365547 78385897 + 1580863;6480464 18457970;19493349;19161160;19048631;18635682;18427977;18230605;15489334;14702039;12818402;12477932;11087663;19913121;20628086;20634891;20662904;19737740;19948975;20458436;16712791;21832049;21564312;23378610 23743 E5RGH5;E5RH96;Q9H2M3 ABBA01062002;AC008502;AC020937;AF257473;AK000008;AK298298;AK315520;AMYH01015437;BC020665;CB140104;CH471084;NG_029157;NM_001178005;NM_017614 AAG41356;AAH20665;ABM82296;ABM85476;BAA90880;BAG37901;BAH12752;EAW95827;EAW95828;EAW95829;EAW95830;NP_001171476;NP_060084;Q9H2M3 Hs.114172 1697742;2109083;2129883;5015961;5016478;5022322;5022578;5109281 BHMT2_9396;D11S2560;D15S1477;D1S1423;D1S1425;GDB:434012;RH102393;RH46927 FLJ20001 OTTHUMP00000135298;OTTHUMP00000222849;S-methylmethionine--homocysteine S-methyltransferase BHMT2;SMM-hcy methyltransferase;betaine--homocysteine S-methyltransferase 2;betaine-homocysteine methyltransferase 2 APPROVED protein-coding 1048 12069 605932 REVIEWED 1319790 BICD1 bicaudal D homolog 1 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 p11.2-p11.1 32151452 32422408 + 32260185 32531141 + 6480464 9367685;19010793;18487243;17707369;17139249;17101644;16473624;16344560;16320833;15489334;14702039;12892780;12522145;12477932;12447383;12401177;8530100;19596235;19851299;20080650;20164183;20379614;19825938;20686608;20709820;17043677;21988832;23251661 636 A8MVZ6;F8VZX7;F8W056;Q96G01 AA207154;AA249429;ABBA01031717;ABBA01031718;ABBA01031719;ABBA01031720;ABBA01031721;ABBA01031722;ABBA01031723;ABBA01031724;ABBA01031725;ABBA01031726;ABBA01031727;AC016954;AC026356;AC048344;AC087245;AC087316;AK095648;AK290188;AK313430;AMYH01004370;AMYH01004371;AU132680;BC010091;BC136372;CH471116;NM_001003398;NM_001714;U90028;U90030 AAB94805;AAB94806;AAI36373;BAF82877;EAW88532;EAW88533;EAW88534;NP_001003398;NP_001705;Q96G01 Hs.505202 1644885;1681133;1684371;1689474;1714841;1733582;1733608;1754739;2107893;2129681;2155880;2156018;2174452;2179659;5494118 BICD1_8231;D12S1308;D12S911;D12S934;D20S431;RH120415;RH66618;RH92916;RH93400;RH94291;SHGC-133101;SHGC-64856;STS-AA018216;WI-5606;fj02h10.x1 BICD OTTHUMP00000240725;OTTHUMP00000240726;OTTHUMP00000240727;bic-D 1;cytoskeleton-like bicaudal D protein homolog 1;protein bicaudal D homolog 1 APPROVED protein-coding ENSG00000151746 1049 03730 602204 REVIEWED 5686997 BIN2P1 bridging integrator 2 pseudogene 1 4 q21.22 83196002 83197953 + 345258 ABBA01063426;AC116631;AMYH01014351;NG_022065 1696968 RH101956 pseudo 43660 INFERRED 5686996 BIN2P2 bridging integrator 2 pseudogene 2 5 q13.3 75206381 75207693 + 644601 ABBA01061948;AC108120;AMYH01015413;NG_021885 1757915 SHGC-146848 pseudo 43661 INFERRED 1346951 BHMT betaine--homocysteine S-methyltransferase This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008] 5 5 q14.1 78443360 78463869 + 78407604 78428113 + 1580863;6480464;6907045;7242425;7242426;7242428 23073625;20814827;20346934 10075673;8798461;19336437;19161160;19048631;18988749;18830263;18708404;18676680;18635682;18498552;18457970;18427977;18230680;18262489;17993766;17705221;17436311;17376725;17119116;17035141;16953798;16816108;16344560;16189514;15489334;15122900;12818402;12749058;12477932;12475213;12220488;12071701;11883905;11516176;11223523;10529246;9681996;9281325;8889548;1657504;19170196;19493349;19625176;19635752;19683694;19692168;19737740;19777601;19936946;19948975;20031554;20346360;20453000;20458436;20662904;20737570;19913121;20628086;20634891;20664391;21564312;21349258;21093336;21565678;18029348;21630102;22138536;22339686;22339736;18000879;21988832;23378610 635 E5RJH0;Q93088 ABBA01062002;ABBA01062003;ABBA01062004;AC008502;AF118371;AF118372;AF118373;AF118374;AF118375;AF118376;AF118377;AF118378;AK298308;AK303780;AK315224;AMYH01015437;AY325901;BC012616;BM678994;CH471084;DA370221;NG_029156;NM_001713;U50929 AAC50668;AAD22043;AAH12616;AAQ90058;BAG37653;BAG60562;BAG64739;EAW95831;EAW95832;NP_001704;Q93088 Hs.80756 1656439;1658462;1671780;1684940;1687548;1773092;2158259;2218308 BHMT_54.2;RH16250;RH35961;RH80672;RH91498;SGC33609;SHGC-33971;SHGC-56646 BHMT1 OTTHUMP00000135297;betaine homocysteine methyltransferase;betaine--homocysteine S-methyltransferase 1;betaine-homocysteine methyltransferase APPROVED protein-coding ENSG00000145692 1047 04200 602888 REVIEWED 1352041 BICD2 bicaudal D homolog 2 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008] 9 9 9 q22.31 65915700 65969136 - 94513466 94566904 - 95473645 95527083 - 6480464 16473624;17081983;16964243;15592455;15489334;15302935;15164053;15144186;14609947;12477932;12447383;12401177;11864968;11483508;9734811;16417406;23097494;18029348;17139249;19596235;19615732;21139048;20360068;22589738;22190034;23455922 23299 Q8TD16;Q96FU2 AB014599;ABBA01018592;ABBA01018593;ABBA01018594;AL136981;AL137074;AMYH01021510;AY052562;BC004296;BC010428;BC073970;CH471089;NM_001003800;NM_015250 AAH04296;AAH10428;AAH73970;AAL12246;BAA31674;EAW62829;NP_001003800;NP_056065;Q8TD16 Hs.436939 1650891;1662827;1662829;1668594;1677422;1746009;2109085 A002D08;BICD2_9337;G06234;G19949;RH121891;RH91165;WI-17979 KIAA0699;SMALED2;bA526D8.1 OTTHUMP00000022790;OTTHUMP00000022791;bic-D 2;coiled-coil protein BICD2;cytoskeleton-like bicaudal D protein homolog 2;homolog of Drosophila bicaudal D;protein bicaudal D homolog 2 APPROVED protein-coding ENSG00000185963 17208 09826 609797;615290 REVIEWED 1347683 BIK BCL2-interacting killer (apoptosis-inducing) The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011] 22 22 q13.31 41836701 41855662 + 43506754 43525718 + 1580863;2314029;6480464 19641503 17714764;17574210;17047080;17027756;16060964;15824729;15809295;15791210;15767553;15731089;15489334;15461802;14983013;12874789;12853473;12477932;11884414;11782349;11375329;11342619;10974546;10591208;10500065;10381646;9525867;9463381;8816500;15694340;16697956;7478623;10381623;18636124;18519826;18299962;8521816;16189514;15721256;9130713;9488477;19632297;19641504;19767753;19898928;20379614;20855536;16341674;19913121;20564319;20628086;21832049;22288719;22873408;21063407;21613222;21622563;15342556;21906983;22139380;21743057;22795130;22855140;21988832;22388352;17289999 638 Q13323 ABBA01017908;ABBA01017909;AF174424;AL022237;AMYH01012826;AY245248;BC001599;BM765910;BP329261;BT006728;CH471138;CR456390;CR541863;CR541883;NM_001197;U34584;U49730 AAC50413;AAC79124;AAF01156;AAH01599;AAO61089;AAP35374;ABM84664;ABM84671;ABM92195;CAA18260;CAG30276;CAG46661;CAG46681;CAK54379;CAK54678;EAW73282;EAW73283;EAW73284;NP_001188;Q13323 Hs.475055 1298134;1298166;1298206;2108709 BIK_7754;D6S1017;D6S1021;D6S1031 BIP1;BP4;NBK OTTHUMP00000198290;apoptosis inducer NBK;apoptosis-inducing NBK;bcl-2-interacting killer APPROVED protein-coding ENSG00000100290 1051 04547 603392 REVIEWED 1346183 BID BH3 interacting domain death agonist This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 22 22 q11.1 16596906 16637258 - 18216906 18257431 - 1580863;2313998;2314029;2314002;2317560;2317561;2317562;4143170;4143196;4143171;6480464;6484113;6907045 18931364;19641503;18090083;15943879;19940077;19888517;17403612;19239902;19961901 11085743;22189507;22416135;22939629;23019260;8918887;15231831;9727491;11099414;11114298;12804595;9727492;10950869;12624108;19454696;19423537;19246452;19233849;19219602;19074885;19052714;18925930;18838202;18665919;18648372;18593990;18469004;18373075;18317451;18297401;18195012;18173728;18166654;18165867;17052454;10629050;18089817;17855051;17765974;17762183;17666167;17635912;17549073;17534194;17431792;17308307;17289999;17226776;17200714;16987815;16167175;16964285;16908521;16485030;16475813;16380381;16172118;16077201;15809076;15772077;15694340;15637055;15615731;15592455;15574335;15501827;15489334;15461802;15323553;15173176;15123718;15117953;15024076;14769944;14716828;14702039;14583606;14581476;12934063;12871587;12808108;12766488;12754217;12598529;12477932;12419244;12196516;12193163;12097160;12061801;12000759;11971973;11940658;11929871;11832478;11805084;11790791;11741882;11585909;11583631;11583622;11544326;10364179;10089877;9790773;9721221;9463381;7929347;7774948;12404116;15659383;11399776;15520201;15353804;15721256;15692567;19918914;20356928;21223573;21178828;20140092;16697956;18029348;19046991;19381674;19640637;19641510;19670908;19711428;19820711;19890662;19929986;20379614;20453000;20802294;20855536;20877624;19029793;20187936;16341674;21041309;19913121;20628086;21072056;20392206;21148306;22964611;23333919;23383273;21367852;21613222;21859891;23604079;21382479;23418437;23824909;15146197;16344560;21113148;21642428;21060336;22246181;22393005;19074440;21856753;21900206;21751259;22052011;22354970;22213163;22130162;21139048;21906983;22464442;22115752;22339673;22860893;23192964;17488272;20404718;20801175 637 A8ASI8;B2ZP79;B3KT21;P55957 ABBA01001430;ABBA01001431;ABBA01001432;AC006285;AC016026;AF042083;AF087891;AF250233;AF370380;AK094795;AK313729;AMYH01012438;AMYH01012439;AY005151;AY309922;BC009197;BC022072;BC033634;BC036364;BM561391;BM842561;BQ068464;CH471193;CN277529;CQ786436;CR407603;CR456389;D89803;DA007047;DA158889;DA274603;DB167767;EU447348;EU678292;EU678293;EU678294;NM_001196;NM_001244567;NM_001244569;NM_001244570;NM_001244572;NM_197966;NM_197967 AAC34365;AAF89091;AAH09197;AAH22072;AAH33634;AAH36364;AAO32633;AAP50259;AAP97190;AAQ15216;ABZ92041;ACA61804;ACD47106;ACD47107;ACD47108;BAF79673;BAG36471;BAG52933;CAG17894;CAG28531;CAG30275;CAK54378;CAK54677;EAW57770;EAW57771;EAW57772;EAW57773;EAW57774;NP_001187;NP_001231496;NP_001231498;NP_001231499;NP_001231501;NP_932070;NP_932071;P55957 Hs.591054 1651664;1685752;1729187;1743413;5015619;5015861;7185938 D10S16;D11S3114;GDB:316037;RH92974;SHGC-36512;p1087L10.C1 FP497;MGC15319;MGC42355 BH3-interacting domain death agonist;BID isoform ES(1b);BID isoform L(2);BID isoform Si6;Human BID coding sequence;OTTHUMP00000196194;OTTHUMP00000196195;OTTHUMP00000196197;OTTHUMP00000241218;apoptic death agonist;desmocollin type 4;p22 BID APPROVED protein-coding ENSG00000015475 1050 03590 601997 REVIEWED 732350 BIN1 bridging integrator 1 This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011] 2 2 q14 127522077 127581334 - 127805599 127864903 - 1580043;1580047;704404;704405;1580863;6480464;7240710 10652430;12532338 21460840;21623381;10903846;16275660;17474147;8782822;9182667;19004523;18658220;18348166;18154705;17699764;17676042;17671430;17611416;17218774;17210688;17081983;17059209;16530520;16516635;16381901;16115810;15992821;15489336;15483625;15302935;15207703;14704274;14702039;12972505;12773571;12668730;12558988;12477932;12456676;12183633;11709703;11422041;11384986;11306501;11230166;11076863;11032017;10899172;10764771;10738240;10449755;10430869;10391921;10094488;10036185;9603201;9418903;22832961;9736607;9395479;9356459;9348539;9341169;9315708;9280305;9223448;9195986;9182529;9110174;8725406;8619474;16169070;12604805;18817572;20140253;21460841;21447796;11256614;18029348;19418541;19629135;19851296;19915558;20142620;20169111;20198315;20460622;20558387;20211142;21059989;21390209;21129173;20927630;21627779;10380878;8889548;22863883;21379329;21220176;21832049;19144635;21984944;18985028;22810585;22544318;22539578;21321396;19322201;22281836;21347408;21678469;22005930;23202439 274 O75514;Q9BTH3 ABBA01040216;AC012508;AF001383;AF004015;AF043898;AF043899;AF043900;AF043901;AF068914;AF068915;AF068916;AF068917;AF068918;AF070576;AK127325;AK295300;AK301153;AL713697;AMYH01011017;BC004101;BM711160;BT006865;CF594020;CH471103;NG_012042;NM_004305;NM_139343;NM_139344;NM_139345;NM_139346;NM_139347;NM_139348;NM_139349;NM_139350;NM_139351;U68485;U83999;U84004;U87558 AAB61363;AAB63263;AAC17461;AAC23440;AAC23441;AAC23750;AAC23751;AAC24126;AAC24127;AAC24128;AAC28646;AAC39710;AAC39711;AAC39712;AAC39713;AAC51345;AAH04101;AAP35511;AAY24328;ACE86592;BAH12028;BAH13418;CAD28496;CAL37828;EAW95286;EAW95287;EAW95288;EAW95289;EAW95290;EAW95291;EAW95292;EAW95293;EAW95294;EAW95295;EAW95296;EAW95297;EAW95298;EAW95299;EAW95300;EAW95301;EAW95302;EAW95303;EAW95304;EAW95305;EAW95306;EAW95307;NP_004296;NP_647593;NP_647594;NP_647595;NP_647596;NP_647597;NP_647598;NP_647599;NP_647600;NP_647601;O00499 Hs.193163 1665983;1713797;1723301;1734790;1792646;2145088;2219030 BIN1__4446;D2S1563E;G29312;PMC156129P2;RH120786;RH122339;STS-AA039724 AMPH2;AMPHL;DKFZp547F068;MGC10367;SH3P9 OTTHUMP00000162177;OTTHUMP00000162178;OTTHUMP00000162179;OTTHUMP00000162180;OTTHUMP00000162181;OTTHUMP00000162182;OTTHUMP00000162183;OTTHUMP00000162184;OTTHUMP00000162185;OTTHUMP00000203785;OTTHUMP00000203786;amphiphysin II;amphiphysin-like protein;box dependant MYC interacting protein 1;box-dependent myc-interacting protein 1;myc box dependent interacting protein 1;myc box-dependent-interacting protein 1 APPROVED protein-coding ENSG00000136717 1052 03150 255200;601248 REVIEWED 2307244 BIN3-IT1 BIN3 intronic transcript 1 (non-protein coding) 8 8 8 p21.3 21459738 21461576 - 22554748 22555669 - 22497884 22499722 - 14702039;12477932;21832049 80094 Q9H7X8 ABBA01005526;AC037459;AK024169;AMYH01018567;BC013100;CH471080;DN996902;NR_027715 AAH13100;BAB14845;EAW63657 Hs.675917 APPROVED miscrna 25868 07850 VALIDATED 6769738 BIRC6-AS1 BIRC6 antisense RNA 1 22196729 100874009 AL133245 pal3 APPROVED miscrna 40641 1315604 BIN2 bridging integrator 2 12 12 12 q13 50476304 50519423 - 49961089 50004205 - 51674822 51717938 - 6480464 16541075;15489334;14702039;12477932;10903846;8125298;21044950;20379614;21890473;21782286;23285027 51411 F5H0W4;Q9UBW5 AB032698;AB032710;ABBA01031609;ABBA01031610;ABBA01031611;AC046135;AF146531;AK000783;AK093638;AK225911;AK300211;AK314304;AMYH01004463;AMYH01004464;BC047686;BG388638;CH471111;NM_016293 AAD54227;AAH47686;BAA88108;BAA88125;BAA91376;BAG36957;BAH13239;EAW58186;EAW58187;EAW58188;NP_057377;Q9UBW5 Hs.14770 1696968;1707290;2135947;2170747 D12S1811;G21352;RH101956;SHGC-79249 BRAP-1 breast cancer associated protein BRAP1;breast cancer-associated protein 1;bridging integrator 2;bridging integrator-2 protein-coding ENSG00000110934 1053 05805 605936 VALIDATED 1317921 BIN3 bridging integrator 3 The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 21439785 21488652 - 22533876 22582606 - 22477931 22526661 - 1580863;6480464 11274158;16524918;16344560;15489334;14993925;14702039;12477932;8125298;17353931;18654987;17207965;22505724 55909 E5RGB5;E5RHU4;E5RJI6;H7BYV6;Q9NQY0 ABBA01005526;AC037459;AC105046;AF271732;AK001289;AK023980;AK090446;AK124486;AK222470;AMYH01018567;BC001223;BC009824;BC050314;CH471080;DA480525;NM_018688 AAF76218;AAH01223;AAH09824;ADQ31692;BAA91603;BAB14751;BAC03427;BAD96190;EAW63650;EAW63651;EAW63652;EAW63653;EAW63654;EAW63655;EAW63656;NP_061158;Q9NQY0 Hs.654720 1336126;1758887;1786742;2147159;2152812;5014051;5015619;5037552 D11S3114;D8S1733;D8S2278;D8S2279;RH47796;RH48987;SHGC-150806;SHGC-155287 MGC14978 OTTHUMP00000225122;OTTHUMP00000225124;OTTHUMP00000225126;bridging integrator 3 APPROVED protein-coding ENSG00000147439 1054 05904 606396 REVIEWED 1347209 BIRC2 baculoviral IAP repeat containing 2 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 q22 101723176 101754611 + 102217913 102249401 + 1580863;1643526;1643527;1643528;1643529;6480464;6484113;6907045 17154176;16504151;12218061;12208731 22434933;11084335;16282325;18022362;8548810;12761501;11106668;19416853;19336370;19223549;19154529;19029953;18931663;18846111;18827186;18676680;18621737;18621506;18570872;18566024;18434593;18239673;18230607;17993464;17822677;17626072;17220297;16983704;16929535;16775178;16701639;16510124;16339151;16189514;16180223;16080516;15911110;15861135;15665297;15501771;15489334;15359644;15318034;15187025;15183896;14960583;14960576;14708638;12888921;12887920;12867425;12865429;12851723;12651874;12603340;12571250;12525502;12477932;12388702;12243753;12209092;11907583;11906213;11604410;11583623;11562359;10929712;10404221;9892732;9642260;9545235;9384571;8943045;8938457;8643514;8552191;8125298;18939944;19011619;10753917;9705938;15353805;15580265;20184394;20614026;20957035;22117219;22733500;17613533;19153467;19170196;19397698;19567200;19692168;19720604;19893574;20097753;20447407;16263936;16775419;19690564;19854138;20562859;20932475;20667824;21414315;20078866;20951133;19913121;20458734;20628086;15218035;21113135;21048031;22990857;23201124;21393245;21549626;19810754;19815541;21048196;21817100;19464198;20005846;21525013;18082613;22927431;21653699;21331077;18775313;19258326;19506082;21849505;21903422;21931591;21795072;22505724;22815481;23007157;20972266;21139048;21628460;21890473;21906983;21987572;22021857;22212761;16344560;18414036;22607974;15078891;19584093;20348096;22403404;15707590;19373254;22591684;11181075;16891304;17069460;19698783;21041727;22493164;23605047;23524849;18022363;21963094;21988832;22274400;22711539;23000965;23109427;23453969;23085658 329 E9PI77;E9PIW1;E9PMH5;E9PNM6;E9PQZ9;H0YDY3;Q13490 ABBA01039934;ABBA01039935;AK225856;AK303197;AK313446;AMYH01003992;AP000942;BC016174;BC028578;BX647978;CH471065;DA094075;DA115985;DQ068066;L49431;NM_001166;NM_001256163;NM_001256166;U37547;U45879 AAC41942;AAC50372;AAC50508;AAH16174;AAH28578;AAY46158;ABM83310;ABM86522;BAG36235;BAG64288;EAW67018;NP_001157;NP_001243092;NP_001243095;Q13490 Hs.696238;Hs.731943 1650274;1682615;1711338;1775376;1792892;2106961;2125309;2158682 A002E11;BIRC2_7224;D11S4286;PMC166414P1;RH11632;RH98380;SHGC-84924;WI-18122 API1;HIAP2;Hiap-2;MIHB;RNF48;c-IAP1;cIAP1 IAP homolog B;IAP-2;NFR2-TRAF signalling complex protein;OTTHUMP00000235704;OTTHUMP00000235706;OTTHUMP00000235707;RING finger protein 48;TNFR2-TRAF-signaling complex protein 2;apoptosis inhibitor 1;baculoviral IAP repeat-containing 2;baculoviral IAP repeat-containing protein 2;inhibitor of apoptosis protein 2 APPROVED protein-coding ENSG00000110330 590 03419 601712 REVIEWED 732624 BIRC3 baculoviral IAP repeat containing 3 This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011] 11 11 q22 101693404 101713675 + 102188181 102210134 + 1580863;1643526;6480464;6484113;6907045 17154176 16123224;16395405;8552191;8548810;19416853;19336370;19302291;19243308;19234489;19223549;19060847;19029953;18953427;18931663;18768389;18676680;18621737;18570872;18566024;18508827;18216531;18195037;17993464;17972100;17927572;17626072;17179183;17133355;17069460;16984419;16983704;16891304;16813569;16799641;16775419;16761316;16467195;16395399;16356540;16339151;16142363;15982633;15856013;15845643;15696476;15598810;15489334;15363040;15183896;15078890;15037009;15023888;14960576;14708638;14562112;14527959;12926068;12865429;12815069;12651874;12651604;12539042;12525502;12477932;12393423;12243753;12161039;12082024;11960389;11907583;11583623;11562359;11066071;10929712;10610122;10233894;9892732;9545235;9384571;8938457;20957035;22195745;22902369;8643514;18784070;18939944;19011619;10753917;9705938;15353805;10862606;15494311;15175157;20691152;20576118;11084335;11604410;11906213;12571250;12867425;15861135;16189514;16282325;16510124;17613533;19170196;19358671;19625176;19692168;19923725;20097753;20237496;20385093;20453000;8943045;9642260;20447407;19690564;20562859;20863547;20547836;19763917;20078866;19913121;20628086;15218035;20063052;21116278;20855536;21048031;20959404;21273489;20079017;19810754;19815541;23259674;19464198;21152357;21331077;21865390;21113135;21817100;18775313;21849505;21931591;21963223;11466612;21795072;21869827;21628460;22083956;21881048;22068233;22434933;22607974;15665297;14685266;15078891;21393245;21229359;22403404;15310755;16701639;19698783;21653699;22493164;21890473;21988832;23032264;23243274;23453969;22215414;22820591;23524849;23543740;23612708 330 H0YCJ5;H0YEZ0;Q13489 AA805622;AA873008;ABBA01039935;ABBA01039936;AF070674;AF178945;AI880555;AMYH01003991;AP000942;AY764389;BC027485;BC037420;BE907592;BG569841;BQ718651;BU428906;BX415415;BX475964;CH471065;HI574220;HI574222;L43346;L49432;NM_001165;NM_182962;U37546;U45878 AAC41943;AAC50371;AAC50507;AAC83232;AAG09369;AAH37420;AAU88144;CBX47599;CBX47600;EAW67017;NP_001156;NP_892007;Q13489 Hs.127799 1694610;1722093;1792894;1793534;1857510;2138843;2164725;2183725 A007H38;G43312;G60088;PMC166414P2;PMC229255P1;RH79205;SGC33804;SHGC-31347 AIP1;API2;CIAP2;HAIP1;HIAP1;MALT2;MIHC;RNF49;c-IAP2 IAP homolog C;IAP-1;OTTHUMP00000235699;OTTHUMP00000235700;OTTHUMP00000235701;RING finger protein 49;TNFR2-TRAF signaling complex protein;TNFR2-TRAF-signaling complex protein 1;apoptosis inhibitor 2;baculoviral IAP repeat-containing 3;baculoviral IAP repeat-containing protein 3;inhibitor of apoptosis protein 1;mammalian IAP homolog C APPROVED protein-coding ENSG00000023445 591 03426 601721 REVIEWED 1349757 BIRC8 baculoviral IAP repeat containing 8 19 19 19 50834544 50836565 - 58484666 58486687 - 53792854 53794875 - 6480464 15485395;12477932;12372615;11597143;11390657;21110914;16344560;19549727;19690564;20800603 112401 Q6PIA0;Q96P09 ABBA01068217;AC092070;AF164682;AF420440;AMYH01009959;BC039318;BC046168;BC056914;BC071665;DB052483;HC006788;HC044547;NM_033341 AAH39318;AAH71665;AAK81892;AAL30369;CBH19200;CBH30603;NP_203127;Q96P09 Hs.348263 1794998;1795000 PMC87089P1;PMC87089P2 ILP-2;ILP2;hILP2 IAP-like protein 2;baculoviral IAP repeat-containing 8;baculoviral IAP repeat-containing protein 8;inhibitor of apoptosis-like protein 2;testis-specific inhibitor of apoptosis APPROVED protein-coding ENSG00000163098 14878 12525 VALIDATED 1344292 BLACE B-cell acute lymphoblastic leukemia expressed q36 14667812 338436 A4D250 AC142169;AY166699;NR_103545 A4D250 Hs.521326 1769359;1779882 D7S61;SHGC-153883 FLACE miscrna 20484 608450 PREDICTED 7243590 BIVM-ERCC5 BIVM-ERCC5 readthrough This locus represents naturally occurring read-through transcription between the neighboring BIVM (basic, immunoglobulin-like variable motif containing) and ERCC5 (excision repair cross-complementing rodent repair deficiency, complementation group 5) genes on chromosome 13. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Feb 2011] 20967262;21890473;21963094;23000965 100533467 Q59FZ7 AB209312;ABBA01027069;AL157769;AMYH01005341;AMYH01005342;NM_001204425 BAD92549;NP_001191354 Hs.258429 1725573;1744719;1788296;1793264;2143820;2152163 G62084;G67467;GDB:554884;PMC20331P2;RH71360;STS-X69978 BIVM-ERCC5 protein protein-coding ENSG00000270181 43690 REVIEWED 7245155 BLACAT1 bladder cancer associated transcript 1 (non-protein coding) q32.1 23688781;14702039;16344560 101669762 AC098936;AK022594;BX640973;DA234729;DA703157;NR_103783 Hs.666219 1680471 RH93942 LINC00912;linc-UBC1 miscrna 48597 VALIDATED 1345581 BIRC7 baculoviral IAP repeat containing 7 This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013] 20 20 q13.3 61337721 61342299 + 61867276 61871854 + 1580863;6480464 11801603;11024045;11865055;11162435;19074843;18837095;18555709;18515985;18451137;18278467;18034418;18031611;17968430;17632732;17519534;17437058;17294084;17035597;16990595;16965834;16840203;16806840;16729033;16437214;16026775;22766624;22711539;15541814;15489334;15009721;14614456;12975309;12488298;12477932;11780052;11322947;11084335;19914791;20460713;20691667;19549727;17613533;17672950;18210873;18315896;18827979;19397802;19549891;19724862;20109966;20237496;20388502;19690982;20607788;20717925;18476630;19635196;21867610;21867615;20416174;20584688;21122381;19806913;21113135;21700335;21617971;22086237;22930255;22931613;22932199;8889548;22033581;22427141;23188704;22902369;22938441;23030305;12620238;23069480;23029054 79444 A8MTF4;Q96CA5 ABBA01021393;AF301009;AF311388;AJ309298;AL121827;AMYH01012075;AY358835;AY358836;AY517497;BC014475;BU737800;CH471077;NG_029552;NM_022161;NM_139317 AAG33622;AAG37878;AAH14475;AAQ89194;AAQ89195;AAS01729;ABM84003;ABM87337;CAC37337;CAC37338;EAW75302;EAW75303;EAW75304;NP_071444;NP_647478;Q96CA5 Hs.256126 KIAP;LIVIN;ML-IAP;MLIAP;RNF50 OTTHUMP00000031536;OTTHUMP00000031537;OTTHUMP00000031538;RING finger protein 50;baculoviral IAP repeat-containing 7;baculoviral IAP repeat-containing protein 7;kidney inhibitor of apoptosis protein;livin inhibitor of apoptosis;livin inhibitor-of-apoptosis;melanoma inhibitor of apoptosis protein APPROVED protein-coding ENSG00000101197 13702 05761 605737 REVIEWED 1316326 BIRC6 baculoviral IAP repeat containing 6 This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008] 2 2 2 p22.3 32426891 32688789 + 32435600 32697470 + 32582096 32843966 + 1580863;1580055;6480464;6907045 15457181 18329369;10544019;19223905;15507451;15300255;14765125;14702039;12477932;12168954;10574462;8889548;7566098;15314180;15200957;20957035;22586326;21542283;20800603;20819778;22863883;22553342;16196087;9628897;15781261;18414036;21987572;22085301;21788403;21139048;21890473;21906983;18654987;21963094;22027771;22113938;22788920;23000965;23287853;22053931;22505724 57448 H7C094;H7C3P0;Q9NR09 AA315620;AB033115;ABBA01074887;ABBA01074888;ABBA01074889;ABBA01074890;ABBA01074891;ABBA01074892;ABBA01074893;ABBA01074894;ABBA01074895;AC079837;AF265555;AK023788;AK023848;AL133243;AL133245;AL133246;AMYH01010231;AMYH01010232;AMYH01010233;AMYH01010234;AMYH01010235;BM674459;BX345326;BX371410;BX411219;CA418956;CH471053;NM_016252 AAF75772;BAA86603;BAB14679;BAB14700;EAX00443;EAX00444;EAX00445;EAX00446;EAX00447;NP_057336;Q9NR09 Hs.150107 1685876;1686682;1693598;1700920;1713255;1718041;1739029;1778161;1792898;1847475;1853188 A004S04;D2S1883;PMC166414P4;RH104087;RH120618;RH122637;RH81018;RH99067;SHGC-37671;SHGC-58506;STS-AA018958 APOLLON;BRUCE;FLJ13726;FLJ13786;KIAA1289 BIR repeat-containing ubiquitin-conjugating enzyme;OTTHUMP00000197747;baculoviral IAP repeat-containing 6;baculoviral IAP repeat-containing protein 6;ubiquitin-conjugating BIR domain enzyme apollon;ubiquitin-conjugating BIR-domain enzyme apollon APPROVED protein-coding ENSG00000115760 13516 05731 605638 REVIEWED 1323580 BIVM basic, immunoglobulin-like variable motif containing 13 13 13 q33.1 84295880 84338368 + 102249400 102291882 + 103451399 103493888 + 6480464 14702039;12477932;12036287;11991713;8125298;19416867;19773279;19322201 54841 C9JUI9;Q86UB2 ABBA01027069;ABBA01027070;AF147319;AF339783;AF339793;AF411385;AK000166;AK126285;AK126520;AK225229;AK290658;AK304391;AL157769;AMYH01005341;AMYH01005342;BC020663;BC039587;BC051813;BC075084;BC075085;BC112339;CH471085;GD145579;NM_001159596;NM_017693 AAH51813;AAH75084;AAH75085;AAI12340;AAM45761;BAA90986;BAF83347;BAG65226;EAX09070;NP_001153068;NP_060163;Q86UB2 Hs.288809 1737481;2111624;2135366;2136146;2179901;2218310;5014051;5037552 BIVM_4448;D13S1028;D13S1560;D8S2278;D8S2279;RH46417;RH66234;WI-5740 FLJ44301;FLJ44556;MGC133326 OTTHUMP00000018676;basic immunoglobulin-like variable motif-containing protein protein-coding ENSG00000134897 16034 09827 VALIDATED 737482 BIRC5 baculoviral IAP repeat containing 5 This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 q25 73721872 73733311 + 76210277 76221716 + 1580863;2293092;2293101;2293104;2293122;2293138;2293090;2293102;2293108;2293137;2293106;2293125;2293136;2293094;2293096;2293097;2293105;2293126;2293098;2293131;2293135;2293100;2293103;2293109;2293129;2293139;2293091;2298935;2298940;2298936;2298937;2298939;2293093;2293095;2293099;6480464;6907045 18227733;17364499;17240580;18386577;12854136;18451232;17363528;12115583;15081314;16421596;18246794;15453988;18089718;17905101;17890889;17086357;18159002;17877643;17701349;17804712;17285241;11150435;17938867;12604914;18336887;18567002;16803539;18171606;17559031;17441339;18172282;18055328;17828507 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332 H3BLT4;K7ELG2;K7EMW2;K7EP76;Q75SP2 AB028869;AB154416;ABBA01002938;AC087645;AF077350;AI800528;AK223428;AK301793;AK311917;AL519719;AL547142;AMYH01008664;AY795969;AY830084;AY927772;BC000784;BC008718;BC034148;BC065497;BE537971;BG178974;BG759111;BI254058;BI520186;BM476145;BQ687404;CB112371;CH471099;CR541740;DQ227257;DQ310375;DQ310376;DQ310377;DQ310378;DQ310379;DQ508245;DQ508246;DQ508247;DQ508248;DQ508249;HM625836;JA362594;NG_029069;NM_001012270;NM_001012271;NM_001168;U75285 AAC51660;AAD34226;AAH08718;AAH34148;AAH65497;AAV40840;AAW22624;AAY15202;ABB76601;ABC42341;ABC42342;ABC42343;ABC42344;ABC42345;ABF60110;ABF60111;ABF60112;ABF60113;ABF60114;ADM26643;BAA93676;BAD11155;BAD97148;BAG34858;BAH13555;CAG46540;CAL38006;CCA94579;EAW89511;EAW89512;EAW89513;EAW89514;NP_001012270;NP_001012271;NP_001159;O15392 Hs.744872 1795222;5014051;5021872;5022651;5037552;5095949;5109362;5109559 BIRC5_44;D11S2921;D17S1239;D17S1443E;D8S2278;D8S2279;STS-L26245;sY3084 API4;EPR-1 apoptosis inhibitor 4;apoptosis inhibitor survivin;baculoviral IAP repeat-containing 5;baculoviral IAP repeat-containing protein 5;survivin variant 3 alpha APPROVED protein-coding ENSG00000089685 593 04520 603352 REVIEWED 1606631 BLID BH3-like motif containing, cell death inducer This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011] 11 11 11 q24.1 119146742 119147603 - 121491272 121492133 - 121986062 121986923 - 6480464 18940476;15069058;12477932;20400521;19779542;20838585;20544842;21031016;21846966 414899 Q8IZY5 ABBA01031297;AF303179;AMYH01004094;AP001924;BC130361;BC130363;NM_001001786 AAI30362;AAI30364;AAN31127;ADR83464;NP_001001786;Q8IZY5 Hs.686109 BRCC2;MGC163233;MGC163235 BH3-like motif-containing cell death inducer;OTTHUMP00000231802;breast cancer cell 2;breast cancer cell protein 2 APPROVED protein-coding ENSG00000259571 33495 16392 608853 REVIEWED 1318874 BLK B lymphoid tyrosine kinase This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010] 8 8 p23-p22 11388930 11459517 + 11351521 11422108 + 1580863;2316189;1642307;6480464;6484113;7240710 19180478;17562528 2404338;18204098;14970218;12477932;12406557;11896452;10449731;9525867;9177269;8756631;8636124;8395016;8083187;7845672;7822795;7592958;7592787;19165918;21452313;19225526;19351960;19503088;19644876;19667185;19740902;19796918;19838193;20131239;20131273;20156505;8621719;20130895;20881011;20962850;21068098;20453440;22610502;21408207;22678060;876631;21152986;16273093;18067320;22939624;21978998;19953087;22003931;22446961;22446962;22696686;22748822;22797726;22740142;23053960;23273568;22313735 640 E9PJX5;P51451;Q05D26 ABBA01026878;ABBA01026879;AC022239;AF131216;AK313751;AL832875;AMYH01018481;BC004473;BC007371;BC018703;BC032413;BC038555;BQ057058;CH471157;NG_023543;NM_001715;S76617;Z33998 AAB33265;AAH07371;AAH18703;AAH32413;BAG36491;CAA83965;EAW65617;EAW65618;NP_001706;P51451 Hs.146591 1338349;1707944;1722827;5117316 D8S1695;G60355;GDB:462442;SHGC-82225 MGC10442;MODY11 BLK nonreceptor tyrosine kinase;OTTHUMP00000115909;OTTHUMP00000229490;b lymphocyte kinase;p55-Blk;tyrosine-protein kinase Blk APPROVED protein-coding ENSG00000136573 1057 01866 191305;613375 REVIEWED 1347383 BLCAP bladder cancer associated protein This gene encodes a tumor suppressor protein that reduces cell growth by stimulating apoptosis. The first intron of this gene contains the neuronatin gene, which is imprinted and only expressed from the paternal allele. This gene is imprinted in brain where it is differentially expressed from different promoters. Transcription from the upstream promoter occurs preferentially on the maternal allele, and transcripts are preferentially expressed from the downstream promoter on the paternal allele. Alternative promoters and alternative splicing result in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2009] 20 20 20 q11.23 32853082 32863596 - 35579233 35589717 - 36145819 36156333 - 634549;6480464 10197429 18836209;17031575;16675915;16303743;15489334;14702039;12477932;11780052;15342556;16344560;19783793;19908260;16712791;19322201;23049907 10904 A2A2K8;A2A2K9;P62952 AA780553;ABBA01006621;AF053470;AI920860;AK074498;AK124822;AL049288;AL109614;AMYH01011897;AMYH01011898;BC047692;BC071704;BP293276;CB155706;CH471077;DA198124;DA262965;DA632207;DA943717;NM_001167820;NM_001167821;NM_001167822;NM_001167823;NM_006698 AAC06370;AAH47692;AAH71704;EAW76056;NP_001161292;NP_001161293;NP_001161294;NP_001161295;NP_006689;P62952 Hs.472651 1652539;1685327;1740069;1768334;1768336;2108313;2128911;2133420;2137808;2179571;2185942;7186170 A002D19;D20S1120;D20S125E;D20S530E;D20S769;G19955;NNAT_8167;RH27937;RH79915;WI-19586;WI-21755 BC10 OTTHUMP00000030932;OTTHUMP00000178816;OTTHUMP00000178817;OTTHUMP00000178818;OTTHUMP00000178819;OTTHUMP00000178820;OTTHUMP00000178821;OTTHUMP00000178823;bladder cancer 10 kDa protein;bladder cancer related protein (10kD);bladder cancer-associated protein APPROVED protein-coding ENSG00000166619 1055 16552 613110 REVIEWED 1318795 BLM Bloom syndrome, RecQ helicase-like The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008] 15 15 q26.1 89061583 89159690 + 91260579 91358686 + 1580056;1580057;1580863;1599420;6480464;6907045;7240710 10779560;10825162;9388480 22253018;22106380;17878217;11433031;12818200;10871376;12181313;11781842;7585968;11309417;10359700;15604258;17115688;10728666;19465921;19432957;19329795;19237606;19205873;19165145;19109166;18978339;18974064;18971343;18708356;18682526;18676680;18471088;18448429;18401830;18390547;18278455;18270339;18264947;18054789;18029348;18003860;17984114;17961633;17943968;17855454;17728255;17634426;17603497;17599064;17591918;17457718;17407155;16964243;16880735;16876111;16864798;16766518;16620772;16595695;16565220;16537486;16412221;16199871;16030011;15990871;15965237;15959913;15845538;15805243;15775963;15750625;15726604;15635413;15616572;15579905;15539948;15509577;15489334;15302935;15289897;15257300;15229185;15064730;14688284;14685245;14576316;14517203;12975363;12974384;12826610;12702560;12606585;12477932;12444098;12433984;12242432;12080066;12034743;12019152;11960380;11950880;11919194;11916980;11877377;11876000;11790298;11741924;11716541;11691925;11532193;11500040;11472631;11470874;11406610;11278509;10862105;10851073;10823897;10783165;10734115;9671747;9388193;9285778;8022833;1518822;11325959;15364958;11399766;15143166;12973351;15806145;20215422;20211839;21145461;19015241;19170196;19442250;19500012;19542097;19573080;19578796;19625176;19632996;19661064;19671661;19692168;19734539;19773279;19917125;19935873;19945966;19956565;20154148;20237496;20347428;20447876;20445207;21111748;16326861;20639533;19714462;19913121;20628086;20800603;20813000;20301572;20739603;21123383;21113733;21325134;14729972;17500065;20064461;20347429;15829507;20719863;21743438;21240188;23084401;21300576;21712816;21736299;12724401;16116422;22989712;23129629;21567087;21129251;22586326;21815139;22272300;22356911;20360068;21139048;21693764;22563370;23028338;18562274;19471022;22705371;23225144;23322570;23253856;22544709 641 H0YLV8;H0YNU5;P54132 ABBA01053065;ABBA01053066;ABBA01053067;ABBA01053068;AC021422;AC124248;AK295194;AK303159;AK314262;AMYH01006923;AY886902;BC034480;BC062697;BC093622;BC101567;BC107423;BC115028;BC115029;BC115030;BC115031;BC115032;BC143280;BC143288;CH471101;NG_007272;NM_000057;U39817 AAA87850;AAH93622;AAI01568;AAI07424;AAI15031;AAI15033;AAI43281;AAW62255;BAG36927;BAH12008;BAH13907;EAX02107;EAX02108;NP_000048;P54132 Hs.725208 1671023;1740563;1740605;1740607;2122964;2123025;2161305;2169575 A008V47;D15S1129;D15S1144;D15S1145;D15S834;RH18053;STS-T99721;WI-16966 BS;MGC126616;MGC131618;MGC131620;RECQ2;RECQL2;RECQL3 Bloom syndrome protein;DNA helicase, RecQ-like type 2;OTTHUMP00000194750;recQ protein-like 3 APPROVED protein-coding ENSG00000197299 1058 05211 210900;604610 REVIEWED 1316833 BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008] 12 12 12 q13-q14 55762291 55765956 + 54396088 54399751 + 56109818 56113491 + 1580863;6480464 14667819;15102850;17618940;16344560;14702039;12639951;12477932;10747963;10611234;9674425;8770567;8646881;16169070;11031247;11252894;19246570;15146197;20877624;21832049;22423091;21890473;21906983;22309213;22505724;22554196 2647 F8VP73;F8W606;G8JLQ3;H0YHA4;P78537 ABBA01008384;AC009779;AI673441;AI816035;AK307069;AMYH01004494;BC066340;BC130640;BC132795;BQ899204;BU601406;CH471054;CN263524;D64007;DA243440;DA864590;NG_008606;NM_001487;NR_037655;NR_037656;NR_037657;S82447 AAB37682;AAI30641;AAI32796;BAA10887;EAW96824;NP_001478;P78537 Hs.600940;Hs.94672 BLOS1;FLJ39337;FLJ97089;GCN5L1;MGC87455;MICoA;RT14 BLOC subunit 1;BLOC-1 subunit 1;GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1;GCN5 general control of amino-acid synthesis 5-like 1;GCN5-like protein 1;MTA1-interacting coactivator;OTTHUMP00000242529;OTTHUMP00000242530;OTTHUMP00000242994;biogenesis of lysosome-related organelles complex 1 subunit 1;biogenesis of lysosome-related organelles complex-1, subunit 1 APPROVED protein-coding ENSG00000135441 4200 03263 601444 VALIDATED 1347273 BLNK B-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 10 10 q23.2-q23.33 97941445 98021316 - 97951455 98031333 - 1600518;6480464;6484113;6907045;7240710 10583958 16356554;16344560;16341674;15744341;15588985;15489334;15270728;15087455;14702039;12761551;12514734;12477932;12456653;12093870;11909947;11514608;11489945;11487585;11449366;11356834;11274146;11071869;10981967;10903736;10820378;10556826;10498607;9705962;16568084;9697839;9341187;19218240;19018766;18022864;17681949;16636677;8125298;10684856;12176364;12773374;16385451;16969585;19372136;19641626;20237496;20379614;21048031;21822214;22262777;12496419;21482705 29760 F5GXS1;K7EKR2;K7EM27;Q2MD54;Q2MD59;Q8WV28 ABBA01021830;ABBA01021831;AC021037;AF068180;AF068181;AF180756;AI307343;AK027779;AK225546;AL391057;AM180327;AM180328;AM180329;AM180330;AM180331;AM180332;AM180333;AM180334;AM180335;AM180336;AM180337;AM180338;AM180339;AM180340;AM180341;AM180342;AM180343;AM180344;AM180345;AM180346;AMYH01002970;BC018906;BC110298;BF975580;BM820310;BU597768;CH471066;DA045252;NG_007575;NM_001114094;NM_001258440;NM_001258441;NM_001258442;NM_013314;NR_047680;NR_047681;NR_047682;NR_047683 AAC39936;AAC39937;AAF20382;AAF20383;AAH18906;BAG51377;CAJ55321;CAJ55322;CAJ55323;CAJ55324;CAJ55325;CAJ55326;CAJ55327;CAJ55328;CAJ55329;CAJ55330;CAJ55331;CAJ55332;CAJ55333;CAJ55334;CAJ55335;CAJ55336;CAJ55337;CAJ55338;CAJ55339;CAJ55340;EAW49980;EAW49981;NP_001107566;NP_001245369;NP_001245370;NP_001245371;NP_037446;Q8WV28 Hs.665244 1656818;1699806;1765049 D10S1562;RH103510;SHGC-148592 AGM4;BASH;BLNK-S;LY57;MGC111051;SLP-65;SLP65;bca B cell adaptor containing SH2 domain;B cell linker protein;B-cell activation;B-cell adapter containing a SH2 domain protein;B-cell adapter containing a Src homology 2 domain protein;B-cell linker protein;OTTHUMP00000020167;OTTHUMP00000020168;Src homology 2 domain-containing leukocyte protein of 65 kDa;Src homology [SH2] domain-containing leukocyte protein of 65 kD;cytoplasmic adapter protein APPROVED protein-coding ENSG00000095585 14211 05153 604515;613502 REVIEWED 1321173 BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42486265 42489320 + 50373891 50375003 + 45682003 45685058 + 6480464 12576321;15102850;16385460;17081983;12923531;12477932;12191018;11031247;11252894;19197348;20460622;20301464;17182842 388552 K7EN58;Q6QNY0 ABBA01040912;AC005757;AC005779;AK130151;AK130186;AK296695;AMYH01009849;AY531266;BC151151;BC151152;BU616355;DC422050;DN996082;NG_008372;NG_033044;NM_212550 AAI51152;AAI51153;AAT00462;BAC85300;BAG59289;NP_997715;Q6QNY0 Hs.103902 1851787;5015961 D15S1477;RH48388 BLOS3;FLJ26641;FLJ26676;HPS8;RP BLOC-1 subunit 3;biogenesis of lysosome-related organelles complex 1 subunit 3;biogenesis of lysosome-related organelles complex-1, subunit 3;reduced pigmentation, mouse, homolog of APPROVED protein-coding ENSG00000189114 20914 12527 609762;614077 REVIEWED 1312244 BLMH bleomycin hydrolase Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008] 17 17 q11.2 25599349 25643200 - 28575213 28619184 - 1580058;1580059;1580863;6480464;7240710 14732230;16105758 9546396;8639621;18398146;18082847;17854420;16189514;15900213;15489334;12604387;12477932;12082022;11436125;11099722;10973933;10686410;10404591;10353821;10335922;9855622;9500538;9485374;9407121;9331073;8125298;16169070;8620487;21145461;11350084;19615732;22863883;21190945;21310951;22037625;21163940;20198498;20360068;18029348;21943823;21139048;21693764;21890473;21900206;21906983;20301340;21628590;21963094;23000965;22505724 642 E7EMN3;J3KS79;J3KSD8;K7EMJ3;K7ENH5;K7ES02;K7ESE8;Q13867 ABBA01015001;ABBA01015002;AC087644;AC104984;AF091082;AI283058;AK223403;AK301948;AK312896;AMYH01008300;BC003616;BG471412;BT007018;CH471159;DC346179;NG_011440;NM_000386;X92106 AAC72951;AAH03616;AAP35664;BAD97123;BAG35743;BAG63365;CAA63078;EAW51224;NP_000377;Q13867 Hs.371914 1660545;1687049;1749879;1783462;2127178;2219032 BLMH__4450;RH45325;RH91724;SHGC-111440;SHGC-111606;SHGC-24274 BH;BMH BLM hydrolase;bleomycin hydrolase APPROVED protein-coding ENSG00000108578 1059 03870 104300;602403 REVIEWED 1315231 BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 10 10 10 q24.31 95771676 95784317 - 102023703 102036429 - 102033035 102046469 - 2302154;6480464 16176350 15381421;15102850;18188704;19083121;15489334;15164054;14702039;12923531;12576321;12477932;12191018;11483580;18329849;19615732;20308062;15146197;21139048;21697133;21832049;21900206;16712791 282991 F1T0F0;J3QRU7;Q6QNY1 AB593084;ABBA01063228;ABBA01063229;AK054697;AK298969;AL138921;AL139819;AMYH01002997;AY278457;AY531265;BC020494;BF666010;BG545838;BG679165;BI753469;BX112121;CB118026;CH471066;CN340962;NM_173809;NR_046296;NR_046314;NR_046315 AAH20494;AAQ19606;AAT00461;BAG61064;BAJ84024;EAW49835;EAW49836;EAW49837;NP_776170;Q6QNY1 Hs.34906 2167444;2175233;2184379;2219034;5015619;5015961;5024039;5037552 BLOC1S2__4451;D11S3114;D15S1477;D16S325;D8S2279;RH45831;RH47426;SHGC-34558 BLOS2;FLJ30135;MGC10120;RP11-316M21.4 BLOC-1 subunit 2;OTTHUMP00000020281;OTTHUMP00000020282;biogenesis of lysosome-related organelles complex 1 subunit 2;biogenesis of lysosome-related organelles complex-1, subunit 2;centrosomal 10 kDa protein;centrosome protein oncogene;centrosome-associated protein APPROVED protein-coding 20984 12526 609768 VALIDATED 5133076 BLOC1S5-TXNDC5 BLOC1S5-TXNDC5 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog) and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 6 p 7881483 8064647 - 11181995;12477932;20967262 100526836 H3BN57 ABBA01022048;ABBA01022049;ABBA01022050;ABBA01022051;ABBA01022052;ABBA01022053;AL023694;AL096800;AL133541;AMYH01016064;AMYH01016065;BC052310;CH471087;NR_037616 AAH52310;EAW55223 Hs.150837 1649676;1654410 A002L04;WI-13193 FLJ21789;MGC59718;MUTED-TXNDC5 APPROVED miscrna ENSG00000259040 42001 VALIDATED 1602324 BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 6619850 6621391 + 6768743 6770288 + 6717842 6719387 + 6480464 15489334;15102850;14702039;12923531;12576321;12477932;12191018;11110696;11031247;11252894;21900206;22203954 55330 Q9NUP1 ABBA01012727;AC093323;AF085849;AI679712;AK002092;AMYH01013918;BC001818;BC009890;BC067815;CH471131;NM_018366 AAH67815;BAA92080;EAW82382;NP_060836;Q9NUP1 Hs.7570 1648236;1652248 SHGC-32908;SHGC-67821 BCAS4L;BLOS4;CNO;FLJ11230 BLOC-1 subunit 4;OTTHUMP00000155165;biogenesis of lysosome-related organelles complex 1 subunit 4;cappuccino homolog;protein cappuccino homolog APPROVED protein-coding ENSG00000186222 24206 12035 605695 REVIEWED 1353512 BLZF2P basic leucine zipper nuclear factor 2 pseudogene 14 14 14 q24.1 49394258 49397701 - 68403029 68406681 - 69333375 69336827 - 317729 ABBA01023683;AL132986;AMYH01005821;NG_002462 pseudo 20049 INFERRED 1315693 BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010] 6 6 6 p25.1-p24.3 9243487 9293945 - 7959213 8009646 - 8013800 8064647 - 6480464 15102850;17618940;15489334;14574404;12923531;12576321;12477932;12191018;12019270;11912185;21145461;17182842;19615732;16341674;16344560;21044367;20562859;21832049 63915 G5E931;Q8TDH9 AA653396;ABBA01022052;ABBA01022053;AF426434;AK025442;AK301142;AK311385;AL023694;AL096800;AMYH01016065;BC032438;BC119644;BC119645;BM829259;BX647336;CH471087;CR749569;DA635930;NM_001199322;NM_001199323;NM_201280 AAH32438;AAI19645;AAI19646;AAL99385;BAG62734;CAH18364;EAW55225;NP_001186251;NP_001186252;NP_958437;Q8TDH9 Hs.719272 1339010;1661550;1685445 D6S1674;RH48250;RH94181 BLOS5;DKFZp686E2287;FLJ18427;MU;MUTED BLOC-1 subunit 5;OTTHUMP00000016007;OTTHUMP00000212220;biogenesis of lysosome-related organelles complex 1 subunit 5;muted homolog;protein Muted homolog APPROVED protein-coding ENSG00000188428 18561 06289 607289 REVIEWED 1352048 BMIQ1 body mass index quantitative trait 1 11713718 170815 1338834 D7S1804 23827 1348709 BMIQ2 body mass index quantitative trait 2 11713718 192149 1857361 D13S257 23828 1349561 BMIQ3 body mass index quantitative trait 3 11713718 337895 1298296;1331554 D6S1009;D6S305 23829 1344681 BMIQ4 body mass index quantitative trait 4 7240710 11713718 338026 1298235;1298267 D11S1998;D11S4464 23830 607447 1342866 BMF Bcl2 modifying factor The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 q14 38167383 38188367 - 40380091 40401075 - 737633;2314029;6480464 12477932;19641503 11546872;12591950;19300516;18354037;17557568;17360431;16830229;16484005;15694340;15489334;14702039;14574334;14561217;11214971;15721256;21533175;17207965;20819778;16712791;16697956;19267218;19641506;19671867;20861305;20706276;15342556;21673109;22327514;21988832;23192964;16260615 90427 H0YK50;H0YNT3;Q96LC9 ABBA01038460;AC021755;AI281003;AK024472;AMYH01006558;AY029254;AY222040;AY222041;BC060783;BC069328;BC069505;BC070043;BC104983;BC104985;BG744712;BP280415;BQ064116;CB108463;CH471125;HY090235;N41452;NM_001003940;NM_001003942;NM_001003943;NM_033503 AAH60783;AAH69328;AAH69505;AAH70043;AAI04984;AAI04986;AAK38748;AAP22965;AAP22966;ADQ32892;BAB15762;EAW92393;NP_001003940;NP_001003942;NP_001003943;NP_277038;Q96LC9 Hs.591104 1339484;1732131;2118588;2187635 D15S1280;D15S129;D15S214;UniSTS:71295 FLJ00065 OTTHUMP00000160316;bcl-2-modifying factor APPROVED protein-coding ENSG00000104081 24132 05881 606266 REVIEWED 1314490 BLVRB biliverdin reductase B (flavin reductase (NADPH)) The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009] 19 19 q13.1-q13.2 45645541 45663516 - 40953691 40971725 - 1580863;6480464;6907045 8117274;19027726;18241201;15489334;12626517;12477932;11224564;8799475;8687377;8313871;8280170;7929092;7656592;1286669;12909459;22939629;21906983;18029348 645 M0QZL1;M0R192;P30043 ABBA01040760;ABBA01040761;ABBA01040762;ABBA01040763;ABBA01040764;AC010271;AC020929;AK312137;AMYH01009802;AMYH01009803;AY340485;BC109371;BG340491;BU528444;CH471126;D26308;D32143;NM_000713 AAI09372;AAP88933;BAA05370;BAA06874;BAG35073;EAW56969;EAW56970;EAW56971;EAW56972;NP_000704;P30043 Hs.515785 1649879;2118192;2122176;2140288 A009D36;RH16416;RH46045;SHGC-33106 BVRB;FLR;MGC117413;SDR43U1 BVR-B;FR;GHBP;NADPH-dependent diaphorase;NADPH-flavin reductase;biliverdin-IX beta-reductase;flavin reductase;flavin reductase (NADPH);green heme-binding protein;short chain dehydrogenase/reductase family 43U, member 1 APPROVED protein-coding ENSG00000090013 1063 02967 600941 VALIDATED 733010 BLVRA biliverdin reductase A The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 p13 43764797 43813466 + 43798272 43846941 + 1580863;6480464;6907045 21241799;10858451;19243019;19238116;18463290;17402939;17227757;15741166;15489334;14988408;12853948;12477932;12456881;8950184;8889548;8631357;8424666;7929092;21110914;19580635;19690164;20177069;20410444;12909459;20430037;20485444;20526373;21099244;21278388;21483094;21721974;21139048;21890473;21906983;19471022;23000965;22776971 644 C9J1E1;P53004 AACC02000040;ABBA01058193;ABBA01058194;ABBA01058195;AC004939;AC004985;AC005189;AK291862;AMYH01017206;AMYH01017207;AY616754;BC005902;BC008456;BM710258;CA418616;CH236951;CH471073;NG_031876;NM_000712;NM_001253823;U34877;X93086 AAC35588;AAD05025;AAH05902;AAH08456;AAP21879;AAT11126;BAF84551;CAA63635;EAW94171;NP_000703;NP_001240752;P53004 Hs.488143 1653693;1653695;1660596;1687840;2130614;2130616;2142584;2142968;2166200;5124986 A006I27;G20849;GDB:444063;RH47289;RH69251;RH79646;SGC34648;SGC34667;STS-D51504;STS-U34877 BLVR;BVR;BVRA BVR A;OTTHUMP00000159196;OTTHUMP00000207534;biliverdin reductase A;biliverdin-IX alpha-reductase APPROVED protein-coding ENSG00000106605 1062 11229 109750;614156 REVIEWED 1320975 BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 22770564 22793057 + 43666709 43689201 + 45879417 45901909 + 1580863;6480464 11936273;15102850;10610180;16189514;16169070;15489334;14702039;12923531;12576321;12477932;12191018;12019270;9110174;8986625;8619474;8608138;2968981;19546860;11031247;11252894;20936779;21832049;17182842;19322201;20301464;21988832 26258 B3KY40;H3BML5;H3BMT8;H3BN13;H3BN73;H3BNE3;H3BPR6;H3BR42;H3BRA4;H3BST1;H3BU57;Q9UL45 ABBA01039176;AC090527;AF080470;AF131859;AK057545;AK128626;AK315581;AMYH01006620;AMYH01006621;BC004819;BC026289;CH471082;NG_028194;NM_012388 AAF08343;AAH04819;ADZ15783;BAG37954;BAG54702;EAW77330;NP_036520;Q9UL45 Hs.7037 1655172;1771238;1798000;1855975;2177342;5022578;5037552 D15S1094;D1S1423;D8S2279;HUMHM01F10;PLD3_2311;RH11270;STS-N35229 BLOS6;HPS9;PA;PALLID;PLDN BLOC-1 subunit 6;OTTHUMP00000162199;biogenesis of lysosomal organelles complex-1, subunit 5, pallidin;biogenesis of lysosome-related organelles complex 1 subunit 6;pallid protein homolog;pallidin;pallidin homolog;syntaxin 13 binding protein 1;syntaxin 13-interacting protein pallid APPROVED protein-coding ENSG00000104164 8549 16055 604310;614171 REVIEWED 1349052 BLZF1 basic leucine zipper nuclear factor 1 1 1 1 q24 142446973 142475560 + 167603818 167632406 + 169337194 169365782 + 6480464 9129147;11056056;19064610;16710414;15489334;14702039;12477932;11739746;11739401;10602419;9823948;9442054;8125298;11739402;21478859;19536175;18029348;20211142;20398657;21906983 8548 Q5T532;Q5T534;Q9H2G9 ABBA01027952;ABBA01027953;AF272386;AF272387;AF272388;AF273875;AF288161;AF288162;AK055883;AK223533;AK291725;AK307151;AL021068;AL356852;AMYH01001488;BC020716;BI458959;BI460514;CH471067;NM_003666;U79751 AAB63110;AAG37821;AAG37822;AAG37835;AAH20716;ABM82306;ABM85483;BAD97253;BAF84414;EAW90837;EAW90838;EAW90839;NP_003657;Q9H2G9 Hs.130746 1646645;1656813;1677094;1700310;1770099;2109087;2162257;5022651 A007J25;BLZF1_8827;D11S2921;RH103775;RH16672;RH65485;RH92136;SHGC-32124 GOLGIN-45;JEM-1;JEM-1s;JEM1;MGC22497 Golgin-45;JEM-1short protein;OTTHUMP00000033500;OTTHUMP00000033501;OTTHUMP00000033504;cytoplasmic protein;p45 basic leucine-zipper nuclear factor protein-coding ENSG00000117475 1065 16367 608692 VALIDATED 1344269 BMP2KL BMP2 inducible kinase-like X X X q13.2 73689230 73690613 + 73322480 73323715 + 73405760 73407143 + 347359 Q5H9B9 ABBA01059593;AMYH01022613;NG_009518;Z83843 Q5H9B9 pseudo 17080 INFERRED 733110 BMP2 bone morphogenetic protein 2 The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. [provided by RefSeq, Jul 2008] 20 20 p12 6696745 6708910 + 6748745 6760910 + 1580077;1625347;734647;1625350;1580863;2289030;1643592;2289037;2299981;6480464;6484113;6907045;7240710 16361357;15334463;2117991;17002564;17656261;16519147;16651391;15042598 19238726;19140318;19139264;19123988;19113914;19112539;19098993;19080362;19079261;19058174;19038372;19023570;18937504;18818419;18812404;18773965;18720410;18720162;18703506;18600473;18586671;18546152;18512729;18510873;18490653;18471510;18465455;18434375;18426824;18404105;18400943;18184661;15254224;15621726;17472960;15110716;2315314;11502704;18436533;16049014;17029022;17356069;19492344;19453261;19375587;19341710;19327734;19324883;19301257;19281856;19266077;19240369;18391951;18389292;18382765;18326817;18311072;18287331;18179800;18160401;18156628;18059158;18059017;18029192;18021008;17997109;17960657;17919499;17847004;17824831;17726567;17711857;17681894;17617489;17553463;17549388;17530715;17519894;17518682;17504062;17437303;17416365;17401695;17262821;17255107;17138967;17120779;17003113;16893455;16835229;16815889;16771708;16754660;16753015;16719933;16672363;16637042;16621789;16615932;16613856;16604289;16598384;16453284;16442268;16432645;16391828;16326713;16261446;16247476;16157126;16150699;16126463;16000303;15861517;15851600;15671031;15647840;15647827;15641068;15592496;15358784;15322112;15240857;15150273;15102076;15039429;15037653;15020244;14699493;14691541;14660436;14623234;14587031;14558086;14499589;13678785;12933820;12925611;12919699;12897139;12872164;12856332;12854828;12819188;12740218;12620973;12535648;12531697;12527559;12489168;12477932;12210753;12168799;12126644;12082094;12052447;12002771;11968014;11854297;11837817;11811554;11792561;11780052;11748585;11741887;11718007;11642720;11497252;11456401;11263668;11180925;10881198;10880444;10704850;10692589;10657699;10220513;10196167;10085302;10074410;9872992;9493905;9197246;8006002;7811286;3201241;2376592;2004778;1487246;15857508;10712517;7791754;11953135;21471203;19924575;21096864;21415150;20432245;21277338;15064755;16243309;17168321;17244894;17577985;17608624;17992660;18950289;19018606;19231972;19324447;19473100;19582526;19584291;19609629;19639199;19653054;19655815;19693635;19699244;19713532;19736317;19762079;19782107;19797419;19799789;19800879;19811499;19835871;19879168;19909214;19918795;20039267;20060812;20065295;20232298;20237276;20306291;20346918;20424473;20432444;20546278;8752214;9187146;9213002;9693150;21254281;20576608;20651281;20587070;20565259;20302941;20567515;22366399;20304956;20637325;20679527;20506112;20818491;20939477;21054789;16433617;20041271;19754224;19857615;20014079;20530805;20548225;19913121;20348041;20505824;20546612;20555025;20587610;20628086;20634891;20659471;20672350;20677014;20721706;20730440;20670444;20537331;20734064;20816195;20668165;20682677;20927405;21128211;19438813;21885439;20874259;21205918;19670606;21688537;20684029;21084396;21121067;23160099;22778550;22583106;22674456;22791809;23017834;23122408;23150675;22652428;21247344;21702718;21212630;21285872;21570392;23010719;21308777;22958403;19953937;20825377;20848249;21347550;21655089;21688312;21659661;21660578;21673630;21998741;21777514;21401418;21842277;21907184;20838369;21308375;18545679;22270235;22359486;21755409;22102412;21327739;22310349;22496405;22119392;21688123;16194878;17202865;23161572;21720209;21923031;19664780;22323359;21876344;20301613;22540193;20881960;22542719;22652796;22771956;23079991;22894570;23088504;23192572;23239467;23251661;23266556;23341458;23396134;22961954;23023810;23359411;18160010;22965927;23142810 650 C8C060;P12643 ABBA01053905;AF040249;AL035668;AMYH01011696;BC069214;CH471133;GQ335529;GQ335531;HI961649;M22489;NG_023233;NM_001200 AAA51834;AAF21646;AAI40326;AAI48690;ACE86832;ACE87518;ACV32585;ACV32587;CBY84970;EAX10386;EAX10387;NP_001191;P12643 Hs.73853 1339398;1647797;1769780;1795438;2110529;2157002 BMP2_294;D20S1011;D20S892;MARC_41391-41392:1086625030:1;RH66075;RH71375 BDA2;BMP2A BMP-2A;OTTHUMP00000030228;bone morphogenetic protein 2;bone morphogenetic protein 2A APPROVED protein-coding ENSG00000125845 1069 00206 112261;112600;235200 REVIEWED 1348038 BMI1 BMI1 polycomb ring finger oncogene 10 10 p11.23 22650146 22660194 + 22610139 22620414 + 1580058;1580059;6480464 14732230;16105758 20568112;17420273;7715727;9367786;19269851;19233177;19228380;19021148;18829528;18817867;18781299;18701473;18668134;18592462;18591938;18565849;18475299;18450386;18439910;18438345;18427816;18347933;18346113;18269588;18264721;18246051;18228133;18156489;18094618;17989714;17974970;17917742;17711569;17625597;17597110;17557835;17545584;17454639;17452456;17360938;17344414;17233832;17179983;17161394;17151361;17148591;17148583;17145814;17145810;17134822;17081983;16982619;16963837;16936260;16874656;16751658;16714294;16537449;16501599;16359901;16344560;16314526;16169070;16107895;15931389;15897469;15563468;15489334;15386022;15029199;15009096;14536079;12829790;12714971;12482990;12482919;12477932;12408802;12183433;12183370;12167701;11171983;10825164;10737800;10574711;9858531;9199346;9121482;21309753;19451220;22325352;22366984;9009205;8390036;8268912;22863087;23092893;23204235;23239878;19778799;19957112;20668194;22120721;10445843;15334543;16710298;17114435;17157253;17298744;17332741;17666329;18453536;19080002;19080003;19337376;19386347;19389366;19452584;19543317;19556423;19605626;19639171;19695678;19806792;19884659;19903340;19903841;19907431;19934271;19940551;19956605;20015867;20024662;20035051;20085590;20127006;20145620;20170541;20190806;20377880;20385206;21059209;19549727;20574517;20818389;20921134;20428793;20564407;20592341;18029348;19636380;20211142;20426791;20530672;20809956;20569464;19462008;20724541;20818602;20308890;20551323;22994774;23523425;21370603;21428211;21113618;21252986;21276135;20717685;21152871;21276221;21039844;21162745;21164364;21170084;22907436;22664532;23207902;19099625;21125401;21383063;22766604;22842564;21307872;12167161;22493164;19379548;19012049;20601937;20800574;21430439;21638011;23308129;23667531;22898137;23601184;23700898;23744494;21496667;22777769;21373837;21919891;21047978;21179169;21772249;21572997;21851624;20591222;21755556;21865393;21960247;22252887;22265735;21685941;21735131;21856782;21999765;21675959;22509111;22420951;22009787;21282530;21890473;21988832;22897849;23023333;20661663;21725369;22120066;21678481;21732356;22096526;22132147;19322201;21259057;21676867;22293918;22384090;22872929;22170051;22209830;12589020;23057360;23255074;23383216;21656027;23078618;21883379;22040961;22825250;22912356;21866458;22982443;22967049 648 P35226;Q5T8Z1;Q5T8Z2;Q5T8Z4;Q5T8Z5;Q5T8Z6 ABBA01034480;AI274830;AL158211;AMYH01002180;AMYH01002181;AMYH01002182;BC011652;BE008203;BT019450;CH471072;CR456911;DB161566;DB225488;L13689;NM_005180 AAA19873;AAH11652;AAV38257;CAG33192;EAW86148;EAW86150;EAW86151;EAW86154;NP_005171;P35226 Hs.380403;Hs.731287 FLVI2/BMI1;MGC12685;PCGF4;RNF51 B lymphoma Mo-MLV insertion region 1 homolog;OTTHUMP00000019290;OTTHUMP00000019291;OTTHUMP00000019293;OTTHUMP00000019294;flvi-2/bmi-1;murine leukemia viral (bmi-1) oncogene homolog;oncogene BMI-1;polycomb complex protein BMI-1;polycomb group RING finger protein 4;polycomb group protein Bmi1;polycomb group ring finger 4;ring finger protein 51 protein-coding ENSG00000168283 1066 01277 164831 VALIDATED 730933 BMP15 bone morphogenetic protein 15 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.[provided by RefSeq, Sep 2009] X X p11.2 50670524 50676347 + 50653735 50659641 + 1599496;734646;1580863;6480464;7240710 16508750;10888873 15489334;9849956;19263482;18614612;18308851;18227435;18006624;17905236;17826728;17464588;17027369;16645022;16464940;15809424;15772651;21496799;15136966;14970198;12477932;12446716;12419820;11741284;10998422;10443672;22382392;22356426;20547206;18980767;19346101;19376510;19438907;19553676;19635612;19651638;19933466;20067794;20236105;20364024;20734064;20937357;21226076;21669410;21632818;22014425;21565556;22825968;22294741 9210 O95972 ABBA01060056;ABBA01060057;AF082349;AF082350;AJ132405;AL359914;AMYH01022332;BC069155;BC117264;BC117266;CH471180;NG_012894;NM_005448 AAC99768;AAH69155;AAI17265;AAI17267;ADR82968;CAB43531;EAW89914;NP_005439;O95972 Hs.532692 1795436;5016029 BMP15;BMP15_481 GDF9B;ODG2;POF4 BMP-15;GDF-9B;OTTHUMP00000023297;bone morphogenetic protein 15;growth/differentiation factor 9B APPROVED protein-coding ENSG00000130385 1068 02216 300247;300510 REVIEWED 1605441 BMP1 bone morphogenetic protein 1 This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008] 8 8 p21.3 22078835 22125782 + 22022653 22069839 + 6480464 16824737;3201241;7798260;19323056;18824173;18349123;18056036;17548836;17516847;17407447;17255107;17071617;16806233;16507574;16344560;15817489;15591058;15525470;15225209;14759258;14702039;12637569;12637537;12477932;12218058;11986329;11741999;11283002;11260715;10806203;10479448;9500680;8643539;8553073;8530106;8404039;2004778;15857508;21453682;21415150;16169070;19305382;19617627;19801683;20026052;20237496;20955454;12393877;20628624;23505323;21697095;21258932;18624398;21897187;21946044;22482805;22052668 649 B7ZKR5;E5RH22;Q3MIM8;Q99422 AB209590;ABBA01005507;ABBA01005508;ABBA01005509;AC105206;AF318323;AK126396;AK226123;AK291620;AL137746;AMYH01018565;BC002593;BC009305;BC032105;BC044626;BC101763;BC101765;BC136679;BC142953;BC143338;BC144365;BC144366;BE619065;BU627735;CH471080;DA720194;DA864391;DR004420;L35278;L35279;M22488;NG_029659;NM_001199;NM_006129;NR_033403;NR_033404;U50330;Y08723;Y08724;Y08725 AAA51833;AAA93462;AAC41703;AAC41710;AAI01764;AAI01766;AAI36680;AAI42954;AAI43339;AAL55830;BAD92827;BAF84309;CAA69973;CAA69974;CAA69975;EAW63697;EAW63698;EAW63702;NP_001190;NP_006120;P13497 Hs.1274 1660966;1671114;1725833;1742917;1769489;1786790;2113882;2137518;2153216;2155247;2178086;5014053 A005O36;D14S1296;D1S3693;G62003;GDB:215516;RH66510;RH78298;RH78932;SFTPC;SGC35299;SHGC-156059;WIAF-1622 FLJ44432;OI13;PCOLC;PCP;PCP2;TLD;pCP-2 OTTHUMP00000123391;OTTHUMP00000224828;OTTHUMP00000224832;OTTHUMP00000224834;OTTHUMP00000227399;bone morphogenetic protein 1;mammalian tolloid protein;procollagen C-endopeptidase;procollagen C-proteinase APPROVED protein-coding ENSG00000168487 1067 00209 112264;614856 REVIEWED 1353352 BMP10 bone morphogenetic protein 10 The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 68943104 68949140 - 68946117 68952153 - 69092613 69098649 - 1580863;2302083;6480464 17921333 17068149;16049014;10072785;15815621;15489334;12477932;19913121;20628086;20634891;20608934;20237496;20734064;21550985;21737454;21988832;23645739;19903896 27302 O95393 ABBA01075491;AC097495;AF101441;AMYH01010419;BC069080;BC101734;BC105063;CH471053;NG_032117;NM_014482 AAC77462;AAH69080;AAI01735;AAI05064;AAY15075;EAW99863;NP_055297;O95393 Hs.158317 1795434 BMP10_720 MGC126783 BMP-10;OTTHUMP00000159973;bone morphogenetic protein 10 APPROVED protein-coding ENSG00000163217 20869 09788 608748 REVIEWED 1350917 BMP6P1 bone morphogenetic protein 6 pseudogene 1 22 22 22 q11.2 6357301 6358947 + 20869860 20871506 + 22539860 22541506 + 9074928;19738031 266700 ABBA01055082;AMYH01012639;D87000;NG_000002 1777055 D22S585 TGF-beta1P;TGFB1P pseudo 19329 VALIDATED 1604611 BMP2K BMP2 inducible kinase This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 76993004 77128983 + 79916556 80052365 + 79697532 79833341 + 6480464 17081983;16753015;15489334;15254968;14702039;12665801;12477932;11693963;11500515;9853615;19336002;16751776;19453261;19927351;20811636;18029348;19380743 55589 H0Y9P1;K4DI97;Q4W5H2;Q9NSY1 AB015331;ABBA01063387;ABBA01063388;ABBA01063389;AC093841;AC098818;AF527532;AK021620;AK075278;AK292147;AL137275;AL137661;AMYH01014331;BC036021;CH471057;NM_017593;NM_198892 AAH36021;AAM88867;AAY40926;ABM81920;BAA34790;BAC11515;BAF84836;CAB70673;CAB70863;EAX05829;EAX05830;EAX05831;EAX05832;EAX05833;EAX05834;EAX05835;NP_060063;NP_942595;Q9NSY1 Hs.146551 1337651;1340838;1646234;1658860;1693710;1788634;1797324;1852600;2171790;5014051;5037552;5095905;5109281 BMP2K_2550;D1S1425;D4S2947;D4S3003;D8S2278;D8S2279;RH18145;RH66110;SHGC-50474;SHGC-58631;SHGC-59236;SHGC-67617;STS-N20237 BIKE;DKFZp434K0614;DKFZp434P0116;HRIHFB2017 BMP-2-inducible protein kinase;OTTHUMP00000219234;OTTHUMP00000219235 APPROVED protein-coding ENSG00000138756 18041 09828 REVIEWED 735356 BMP3 bone morphogenetic protein 3 BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. [provided by RefSeq, Jul 2008] 4 4 q21 82171143 82197709 + 81952119 81978685 + 1580863;2289037;6480464 16651391 3201241;18391951;18311777;17924656;15489334;15475196;15269709;13678778;12477932;11642720;11138004;9434787;2612162;2211625;2004778;1970330;21415150;19453261;20143330;20238409;7811286;20532035;20734064;21628466;22303795;23127436;23396134;23449627 651 P12645 ABBA01063411;AC093883;AMYH01014349;BC096269;BC096270;BC096271;BC117514;CH471057;M22491;NM_001201 AAA51836;AAH96269;AAH96270;AAH96271;AAI17515;EAX05866;NP_001192;P12645 Hs.387411 1652871;2136538;2179601 RH66829;SHGC-51737;STS-M22491 BMP-3A BMP-3;OTTHUMP00000160802;bone morphogenetic protein 3;bone morphogenetic protein 3 (osteogenic);bone morphogenetic protein 3A;bone morphogenetic protein-3;osteogenin APPROVED protein-coding ENSG00000152785 1070 00208 112263 REVIEWED 1353193 BMP6 bone morphogenetic protein 6 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 6 6 p24-p23 7672010 7826960 + 7727011 7881961 + 1580863;2289017;2289018;2289024;1643590;2289020;6480464;6484113;6907045;7242189;7242194;7242407;7242413;7242415;7242419 18072288;16166304;11245809;17004110;16388909;23097200;22361727;21859731;22364398;21356359;20016212 16886151;16527843;18436533;19308091;19266077;19252488;19245827;19093115;19075223;18949431;18931653;18688853;18683889;18632632;18391951;18349123;18326817;18308844;18187665;18070108;17924656;17899540;17879955;17575215;17574840;17262821;17238135;16604289;16547600;15877825;15861517;15784727;15548695;15516325;15186723;14660436;14623234;14574404;14558086;13130469;12897139;12477932;12140680;11401330;10582704;10504300;9512655;9435314;9417921;9331107;9116752;8089189;7605353;2263636;1453478;1427904;20460105;20567515;17244894;17577985;18805502;19539911;19543302;19694819;19718049;19765379;20048150;20379614;7811286;20573596;20844121;20530805;22086350;20546612;20587610;20634891;20734064;20605837;21136273;21622652;19366699;21898381;11865031;20401668;22305102;22419666;20881960;21963094;22792339;22641693;23049088 654 P22004;Q4VBA3 ABBA01022046;ABBA01022047;ABBA01022048;AF083030;AK300628;AL133541;AL135778;AMYH01016064;BC096084;BC096085;BC099624;BC099625;BC111763;BC112352;BC113018;BC113019;BC128031;CH471087;M60315;NM_001718 AAA36737;AAC33283;AAH96084;AAH96085;AAH99624;AAH99625;AAI11764;AAI12353;AAI13019;AAI13020;AAI28032;AAI60106;BAG62319;EAW55219;NP_001709;P22004 Hs.285671 1649676;1654410;1694260;1697148;1708270;1713133;1713297;1751037;1761537;1852382;2178853 A002L04;AL035176;D6S1842;NIB594;RH102060;RH120353;RH120640;SHGC-104947;SHGC-145537;SHGC-79401;WI-13193 VGR;VGR1 BMP-6;OTTHUMP00000016006;VG-1-R;VG-1-related protein;VGR-1;Vg1-related sequence;bone morphogenetic protein 6;vegetal related growth factor (TGFB-related);vegetal-related (TGFB related) cytokine 2289435 BMD4_H APPROVED protein-coding ENSG00000153162 1073 00211 112266 REVIEWED 1314330 BMP5 bone morphogenetic protein 5 This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008] 6 6 p12.1 55728195 55848334 - 55620236 55740375 - 1580863;6480464;6907045 17656261;17220169;16542506;15861517;15516325;15489334;14660436;14574404;12477932;12131877;11967953;11865031;11807867;11642720;11580864;11564221;9950587;8630036;2263636;1427904;19584291;19935299;20021689;20379614;7811286;20734064;21704030;21319131;22844442 653 B4E0Y4;M9VUD0;P22003 ABBA01050502;ABBA01050503;ABBA01050504;AK291559;AK303576;AL133386;AL137178;AMYH01016363;AMYH01016364;BC027958;CH471081;KC485577;M60314;NM_021073;S81957 AAA36736;AAH27958;AGJ83825;BAF84248;BAG64596;EAX04447;NP_066551;P22003 Hs.296648 1340791;1661606;1663362;1694206;1718573;1794802;1851199;2169601 AL035197;D6S1276;D6S1661;PMC56999P1;RH122491;RH35693;RH71440;STS-M60314 MGC34244 BMP-5;OTTHUMP00000016650;bone morphogenenic protein-5;bone morphogenetic protein 5 APPROVED protein-coding 1072 00210 112265 REVIEWED 1353972 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 6 q22.33 129478671 129480265 - 10051328 100421515;359949 AL669984;AMYH01016664;NG_025866 pseudo 21742 INFERRED 1351193 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 11 q24.1 121232562 121233631 - 100533800;359950 ABBA01031305;AMYH01004092;AP002959;NG_028805 pseudo 21743 INFERRED 1350211 BMP8A bone morphogenetic protein 8a 1 1 1 p34.3 38238694 38277383 + 39729905 39768128 + 39957318 39995541 + 1580863;6480464;6907045 16710414;14702039;12477932;20237496;20424473 353500 Q7Z5Y6;Q9H7R1 AA732526;ABBA01023208;ABBA01023209;AK024413;AK127199;AL365277;AMYH01000521;AMYH01000522;AY303954;BC093743;BC112044;BC131617;BU616301;CH471059;NM_181809 AAH93743;AAI31618;AAP74559;BAB14915;BAC86882;EAX07272;EAX07273;NP_861525;Q7Z5Y6 Hs.472497 1678043;1686260;1704972;1729734;2180677;2220574;5015861;5016781;5037552;7185938 AL010109;D10S16;D1S168;D8S2279;RH76261;RH93165;SHGC-67307;SHGC-77986;UniSTS:485525 FLJ14351;FLJ45264 BMP-8A;OTTHUMP00000010046;bone morphogenetic protein 8A protein-coding 21650 16555 VALIDATED 1353706 BMP8B bone morphogenetic protein 8b The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008] 1 1 1 p35-p32 38505667 38535974 - 39996490 40027120 - 40223903 40254533 - 6480464;6907045 16710414;16314833;15063762;12477932;11427739;10894154;9070944;7757816;1460021;21145461;17474147;20379614;20734064 656 E7EMY8;P34820 ABBA01023201;AL033527;AL049824;AMYH01000524;AMYH01000525;AMYH01000526;AMYH01000527;AMYH01000528;AMYH01000529;AY303955;BC023526;BC108678;BQ888513;CH471059;F07575;NM_001720 AAI08679;AAP74560;EAX07254;NP_001711;P34820 Hs.734367 1686260;1729734;1797328;2180677 AL010109;BMP8B_2501;D1S168;RH93165 BMP8;MGC131757;OP2 BMP-8;BMP-8B;OTTHUMP00000010836;bone morphogenetic protein 8 (osteogenic protein 2);bone morphogenetic protein 8B;dJ118J21.1 (bone morphogenetic protein 8 (osteogenic protein 2));osteogenic protein 2 APPROVED protein-coding 1075 03792 602284 REVIEWED 730832 BMP4 bone morphogenetic protein 4 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq, Jul 2008] 14 14 q22-q23 53486204 53493304 - 54416454 54423554 - 734648;1580863;2289025;2289037;1643593;1643597;1643592;2289003;2289004;2289006;629544;1643589;1643590;1643225;1643229;2296026;6480464;6484113;6907045;7240710 8678932;10701160;16651391;16488995;17286956;16519147;16818050;16730912;16420416;12552124;17644140;17004110;17696121;16447265;12782598 21072679;22167620;22241220;22396540;22170598;14749725;18775317;9804553;17472960;11502704;9389648;19453261;19450561;19407504;19321257;19269967;19249007;19240369;19213939;19158083;19011631;18818419;18787191;18771417;18720384;18683889;18664625;18643848;18632632;18596037;18587495;18551993;18537141;18436533;18400943;18385288;18369157;18365875;18326817;18319260;18317771;18305125;18292231;18252212;18076106;18029192;18021008;17989347;17967130;17850776;17847004;17785623;17696196;17640799;17624341;17570215;17556598;17516553;17429723;17350185;17343268;17275810;17272306;17262821;17255107;17253944;17189614;17015616;17003840;17003113;16769910;16719933;16604289;16542506;16514669;16373339;16341674;16195406;16126463;15861517;15777683;15775969;15591037;15516492;15516325;15489334;15388638;15231748;15186723;15173106;15102076;15039429;15020244;14973287;14672349;14660436;12897139;12865307;12766166;12702499;12606287;12531697;12477932;12445813;12404109;12235106;12163415;12141440;12064918;11867524;11771659;11706034;11642720;11472891;11441185;11427739;11282024;11241215;11156467;10894154;10809227;10706139;10657699;10457277;9701626;8889548;8702914;8645259;8146069;7811286;7673243;7644468;7579580;7558046;12054672;12019147;3201241;8006002;22076569;11260715;23079991;22383492;22191848;22158048;20619754;20480203;21228692;10021330;11023873;12045205;12631064;15451575;16816361;17118062;17244894;17600318;17708801;17992660;18437684;19473100;19488929;19557432;19661459;19685083;19763374;19799789;19814781;19816200;19819988;19839778;19914800;19915575;19923894;20023658;20054823;20057906;20144598;20146882;20157553;20437058;20546278;8674409;8752214;9187146;19950207;20573231;12421925;17720811;20001220;17207965;20734064;20844743;20949628;21034624;22610502;20506112;21054789;20730570;21050181;19913121;20505824;20628086;20628624;20634891;20659471;20668459;20672350;21152263;20182795;20682677;20931521;21128211;21186333;20858598;20486775;21456062;22535375;12399320;17850284;21704030;20705941;21092609;21362572;21670081;21674241;22988237;21655089;21340693;21565626;11865031;22210872;21673106;22052794;22118688;21868759;21906983;23386650;23388637;23454123;23493551;22064324;21855631;22019704;22103619;22209843;22105615;21927809;22350792;22392094;22514733;22158624;22447857;20301552;22700770;23161572;22641693;22971142;22698853;22886282;22899288;22736943;22504665;23010644;23259602;23243277 652 H0YLW3;H0YM53;H0YMP9;P12644;Q53XC5 ABBA01018188;AF035427;AF035428;AF210053;AL138479;AMYH01005742;BC020546;BQ083000;BU683974;BX161385;BX161438;CH471061;D30751;EU518936;HB975907;M22490;NG_009215;NM_001202;NM_130850;NM_130851;U43842 AAA51835;AAC72278;AAH20546;ABW03634;ACB21039;ADQ32405;BAA06410;CAD61876;CAD61909;CBE74713;EAW80628;EAW80629;EAW80630;EAW80631;NP_001193;NP_570911;NP_570912;P12644 Hs.68879 1648777;1777240;1795440;2178138;2179903;2191729;5492305 BMP4_296;Bmp4;G15892;MARC_5761-5762:996690803:2;RH47295;RH66828;SHGC-57004 BMP2B;BMP2B1;MCOPS6;OFC11;ZYME BMP-2B;BMP-4;OTTHUMP00000178992;bone morphogenetic protein 2B;bone morphogenetic protein 4 APPROVED protein-coding ENSG00000125378 1071 00207 112262;600625;607932 REVIEWED 1348383 BMS1P1 BMS1 pseudogene 1 10 10 q11.22 46174281 46182762 - 46737612 46762892 - 16344560;11779832 728053 ABBA01013319;AL450334;AL603982;AMYH01002612;AMYH01002613;AMYH01002614;AMYH01002615;DA245014;NR_026566 Hs.571994;Hs.711898 BMS1LP1;bA556L1.3 bms1l pseudogene 1 pseudo ENSG00000204177 23649 PROVISIONAL 1344234 BMP7 bone morphogenetic protein 7 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. [provided by RefSeq, Jul 2008] 20 20 q13 55178962 55274708 - 55743809 55841707 - 1580863;1643589;2289029;2289030;2289031;2289041;1643225;2289034;1601494;2289039;1643590;2289032;2289033;2289036;2289037;2289038;6480464;6484113;6907045 17644140;17895257;17656261;15861517;9626398;17696121;9808158;16284088;16034630;17004110;15277215;12539225;17437042;16651391;16549155 12478285;12667445;14679171;11502704;18436533;9311995;16049014;14517293;19453261;19283074;19240369;19116903;19112509;18980801;18978678;18621057;18560367;18514338;18496506;18465455;18393351;18349123;18328806;18292470;18259822;18032587;18029192;17909016;17724140;17624341;17530716;17530715;17522432;17497692;17478078;17415633;17264867;17262821;17018615;17003840;16899516;16846353;16831023;16807538;16719933;18508541;16686760;16646979;16419056;16344560;16126463;15994952;15929982;15574511;15489334;15100360;15020244;14981086;14751565;14702039;14660436;14623234;14587033;12925612;12919879;12811818;12792780;12741987;12740218;12734180;12594282;12478660;12477932;12385776;11780052;11769973;11472891;11401538;10912525;9872992;9748228;8889548;8605097;8570652;8297380;8006002;7791754;7560881;2357959;2263636;1427904;11438941;22318606;22447022;23243027;22048752;22525892;20506283;21738478;12631064;17244894;18184661;18437684;19056781;19108831;19180920;19301001;19396502;19403392;19453255;19597895;19725097;19816049;19846067;20085912;20093492;20126477;20237496;20424473;20546278;9693150;20540029;21224856;19950204;20530416;20734064;21110425;20445470;20656331;20670444;20573231;20632031;19913121;20188872;20628086;20677014;20887146;16325379;20682677;20952383;20932341;21305726;21765909;22720873;23132958;22778550;23126427;22674456;22212474;21896235;21485009;21080950;21591998;21317922;21644225;21506685;21609526;19850743;21898381;11580864;19736306;22209770;21458096;21842277;21924665;22209843;22490392;23455153;21447156;21906983;17977014;22124112;22118688;22253716;22305102;22140272;22244873;21935711;21913019;23179403;23386650;18160010;22795855;22958403;23046931;22099397 655 A8K571;B1AKZ9;B1AL00;H0Y4B5;P18075 ABBA01052919;ABBA01052920;ABBA01052921;AF210054;AF289090;AK094784;AK291186;AK312419;AL122058;AL157414;AMYH01012008;BC004248;BC008584;BM683430;CH471077;CQ786476;CS150682;CS237122;CS279049;CS284582;CS410513;CS455741;CS670983;DA740733;EU679366;GM868923;HC190935;M60316;NG_032771;NM_001719;X51801 AAA36738;AAF97256;AAG43508;AAH08584;ABM82420;ABM85611;ABW03413;ACD50899;BAF83875;BAG35329;CAA36100;CAG17752;CAJ29673;CAJ47525;CAJ86525;CAJ98562;CAL47728;CAL85403;CAP07469;CAV07685;CBI69260;EAW75529;EAW75530;EAW75531;NP_001710;P18075 Hs.473163 1674555;1685732;1718157;1788182;1797326;2143144;2145917;2167457;5015961;5022450;5022588;5037552 BMP7_1982;Bmp7;D10S275;D15S1477;D5S1597E;D8S2279;RH122846;RH66106;RH78681;RH92030;SHGC-11943;Z94370 OP-1 BMP-7;OTTHUMP00000031357;OTTHUMP00000166092;OTTHUMP00000166093;OTTHUMP00000166094;bone morphogenetic protein 7;osteogenic protein 1 APPROVED protein-coding ENSG00000101144 1074 00212 112267 REVIEWED 1345179 BMS1P2 BMS1 pseudogene 2 10 10 q11.22 46650101 46661940 - 47225563 47243511 - 15146197;16344560;11779832 414216 ABBA01017234;AK094691;AL391137;AMYH01002404;AMYH01002405;AMYH01002406;AMYH01002407;AMYH01002408;BC008503;BC041413;BC051298;BG474237;CD684353;CN417542;CN417548;DA115686;NR_072978 Hs.463017;Hs.711898 2111133 D10S500E BMS1LP2 bms1l pseudogene 2 pseudo 23650 VALIDATED 1347648 BMS1P3 BMS1 pseudogene 3 10 10 10 q23.2 82755010 82763193 + 88741990 88750172 + 88752010 88760192 + 414217 ABBA01033689;AL136982;AMYH01002903;NG_006111 BMS1LP3 bms1l pseudogene 3 pseudo 23651 INFERRED 1604514 BMPER BMP binding endothelial regulator This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011] 7 7 7 p14.3 33926362 34175842 + 33911048 34162009 + 33944523 34195484 + 6480464 22474252;18787191;15489334;14766204;14702039;12897139;12690205;12477932;11853319;20869035;16344560;21990102;22020334;22772758;22778264 168667 C9JY72;F8WDG9;G5E9K4;Q8N8U9 AACC02000103;AB075845;ABBA01056873;ABBA01056874;ABBA01056875;AC007350;AC010002;AK289963;AMYH01017166;AMYH01017167;AMYH01017168;AY324650;BC060868;BX380517;DB322218;NG_031933;NM_133468 AAH60868;AAP89012;BAB85551;BAF82652;EAL24468;NP_597725;Q8N8U9 Hs.660998 1341079;1671835;1677680;1718947;1755911;1759165;1786456;2120881;2151161;2153809;2183873;5022679 BMPER;D7S1421;D7S2373;D7S683;G16044;RH123180;RH48328;RH79923;SHGC-142745;SHGC-172305;SHGC-3490;WI-14030 CRIM3;CV-2;CV2 BMP-binding endothelial regulator precursor protein;BMP-binding endothelial regulator protein;OTTHUMP00000158859;bone morphogenetic protein-binding endothelial cell precursor-derived regulator;crossveinless 2;crossveinless-2;hCV2;protein crossveinless-2 APPROVED protein-coding ENSG00000164619 24154 16368 608022;608699 REVIEWED 734372 BMPR1A bone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] 10 10 q22.3 88506376 88674925 + 88516396 88684945 + 1580863;734650;1600589;1600590;1600591;5129472;6480464;6484113;6907045;7240710 11536076;11381269;16525031;16685657;19324947 12065756;18436533;15621726;16886151;9389648;8397373;17356069;18937504;18823382;18667463;18510548;18262054;18178612;18160401;17873119;17624341;17573831;17513295;17101085;17081983;16672363;16436638;16436528;16226113;15940369;15489334;15351706;15252450;15235019;12630959;12620973;12477932;12417513;12136244;12135884;11438941;11401330;11282024;11278302;11263668;11241215;11139569;10881198;10850425;10712517;10504300;10051328;9950587;9730621;9663660;9547239;9525338;8707881;8702914;8605097;8592941;7791754;8006002;10880444;10692589;9738003;15148321;22293501;22710174;11580864;15064755;15657086;16385451;18184661;19244313;19453261;19463221;19502417;19773747;20346360;7644468;19438883;20587070;21152263;16341674;16613856;20634891;20693682;20734064;20301642;20927405;20843829;21412070;20673479;21543859;21640116;20360068;21258932;21791611;21872883;22623531;11266516;16198295;19953087;21139048;21906983;21987572;22519633;22939624;23000965;22210872;12857866;15611116;22971142;22886282;19758997;20663871;9136927;23399955 657 P36894 AB451405;ABBA01033683;ABBA01033684;ABBA01033685;ABBA01033686;ABBA01033687;ABBA01033688;AC021036;AC025268;AC067750;AK291764;AMYH01002901;BC028383;BM819272;CH471142;DQ786215;HI961666;NG_009362;NM_004329;Z22535 AAH28383;ABM82450;ABM85640;BAF84453;BAG70219;CAA80257;CBY84973;EAW80320;NP_004320;P36894 Hs.524477 1651848;1667410;1675027;1676940;1685229;1699860;1730405;1764371;1765095;1795442;5113823 BMPR1A_487;D10S1454;D10S1551E;D10S231E;RH103537;RH70975;RH80090;RH93276;SHGC-147966;SHGC-148622;STS-N27448 10q23del;ACVRLK3;ALK3;CD292;SKR5 ALK-3;BMP type-1A receptor;BMPR-1A;OTTHUMP00000020014;activin A receptor, type II-like kinase 3;activin receptor-like kinase 3;bone morphogenetic protein receptor type-1A;bone morphogenetic protein receptor, type 1a;serine/threonine-protein kinase receptor R5 APPROVED protein-coding ENSG00000107779 1076 03192 174900;601299;610069 REVIEWED 1354405 BMPR1B bone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 4 4 q22-q24 95898151 96295099 + 95679128 96079601 + 1334470;1600593;1580863;5129472;5129470;6480464;6484113;6907045;7240710 14523231;15805157;19324947;18292470 12065756;15621726;18436533;17356069;19513897;19453261;19451094;19135982;18773965;18619554;17624341;17381068;17363346;17203235;17001689;16436528;16014698;15897891;15761153;15489334;15235019;15192043;14576167;12477932;12419820;12135884;11781009;11483516;11420127;11401330;11312159;11282024;11279102;10850425;10712517;10504300;9950587;9872992;9730621;9525338;9178898;8707881;8702914;8605097;8140412;7811286;18758450;7791754;8006002;15775969;10051328;20732626;22293501;11266516;15064755;18184661;19738052;20201926;20587070;21152263;20634891;20734064;20673479;19782107;21832049;19953087;20467438;21791611;12857866;22384028;21556765;22294741;22374147;15611116;22971142;19758997;9436979 658 A8KAE3;D6RAW8;D6RGW8;O00238 ABBA01063626;ABBA01063627;ABBA01063628;ABBA01063629;ABBA01063630;AC004061;AC092609;AC093634;AC105395;AK293008;AK299930;AK313642;AMYH01014406;AMYH01014407;AW299723;BC047773;BC069796;BC069803;CH471057;D89675;NG_009245;NM_001203;NM_001256792;NM_001256793;NM_001256794;U89326 AAC28131;AAH47773;AAH69796;AAH69803;BAA19765;BAF85697;BAG36400;BAG61763;EAX06060;NP_001194;NP_001243721;NP_001243722;NP_001243723;O00238 Hs.598475 1336908;1339981;1651281;1705916;1708198;1718743;1726439;1771947;1852562;1855047;2123750;2131954;2163680;2165139;2166465;2177437;5020841;5492363 D4S1045;D4S2278;D4S2380;G41993;G62599;MARC_8975-8976:1025019065:3;RH123060;RH70713;SHGC-24790;SHGC-51110;SHGC-51118;SHGC-51758;SHGC-59827;SHGC-67739;SHGC-78087;SHGC-79355;SHGC-9264;SHGC4-1504 ALK-6;ALK6;CDw293 BMP type-1B receptor;BMPR-1B;OTTHUMP00000161621;OTTHUMP00000161622;OTTHUMP00000219359;OTTHUMP00000219880;OTTHUMP00000219882;activin receptor-like kinase 6;bone morphogenetic protein receptor type-1B;serine/threonine receptor kinase APPROVED protein-coding ENSG00000138696 1077 04457 112600;603248;609441 REVIEWED 1351957 BMS1P4 BMS1 pseudogene 4 10 10 10 q22.2 68742221 68773594 - 75146848 75160272 - 75458909 75490272 - 12477932;11779832 729096 ABBA01020313;AC022400;AC073389;AK294783;AMYH01002828;BC046139;BC063124;BC099910;BX955228;CH471083;NR_026592 BAG57908;EAW54513 Hs.709171 5015861;5037552;5114334;7185938 D10S16;D8S2279;RH25401 BMS1LP4 pseudo ENSG00000242288 23652 PROVISIONAL 1348554 BMS1P5 BMS1 pseudogene 5 10 10 q11.22 48547379 48572483 - 48927373 48952629 - 6480464 12477932;11779832 399761 ABBA01000699;ABBA01006723;ABBA01006724;AK307333;AL731733;AL832069;AMYH01002569;AMYH01002570;AMYH01002571;AMYH01002572;AMYH01002573;BC017177;BC024278;BC065722;BC131568;BX641006;CR936774;NR_003611 Hs.711898;Hs.743373 5016832;5020740;5021228;5021872;5022578;5022651;5037552;5096328;5107782;5111598;5115168;5124345;5128005 D11S2921;D1S1423;D1S3475;D8S2279;GDB:312794;L17809;RH40140;RH48185;RH65856;SHGC-153454;SHGC-37191;WI-15534;sY3084 BMS1LP5 bms1l pseudogene 5 pseudo ENSG00000204164 23653 PROVISIONAL 1343586 BMS1P7 BMS1 pseudogene 7 10 10 q11.22 48926216 48942436 - 49258300 49268060 - 11779832 100133265 AC245041;AL603966;AMYH01002429;NG_011418 BMS1LP7;KIAA0187;bA164N7.1 pseudo 23655 INFERRED 735373 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008] 2 2 q33-q34 202949916 203140719 + 203241050 203432474 + 1580076;1580077;1580863;5129488;5129474;5129239;5129472;5129486;5129230;5129237;5129470;5129473;2289041;5129238;6480464;5135278;6484113;6907045;7240710 15775752;16361357;9080432;18663089;19785764;19324947;10996456;21070126;20534176;18292470;18723761;9626398;20002458;21521772 7791754;17624341;17576816;17515463;17472960;17363346;17322283;17318011;17277049;17203235;17102831;16982201;16782755;16717148;16615932;16436528;16429403;16429395;16344560;16339917;16339782;16155937;16122479;16002577;15965979;15824058;15699281;15687131;15591269;15516492;15492256;15489334;15358693;15354178;15295086;15235019;15146475;15055271;15031260;14702039;14676131;14583445;12963706;12543773;12477932;12415595;12358323;12221115;12135884;11714695;11686884;11484688;11401330;11115378;11015450;10973254;10964520;10903931;10880444;10712517;10051328;9525338;9193425;9054941;8707881;8702914;8592941;7890683;15188402;15621726;18436533;12045205;15657086;18364108;11502704;17356069;19531247;19453261;19424179;19390056;19357154;19307479;19206171;19195606;19059957;19051722;18792970;18647753;18621057;18503968;18496036;18436795;18356561;18342887;18321866;18221724;18187665;18159113;17700526;17641158;7673243;7644468;16282533;10504300;22048752;12819188;17992660;19223935;19552837;19578724;19628780;19634078;19782107;19844076;19864167;19913121;20011660;20096498;20346360;20379614;21030519;20587070;20410205;20734064;21152263;19265191;20955454;20870717;20634891;21311592;22988237;21821917;22129439;22923661;21622843;21801371;21808054;19366699;21900206;21962132;23000965;16198295;21139048;22293501;22341419;23079343;21898662;22312021;20301658;22684006;23115311;23263486;23142694;20663871;22632830;22961979;22923421;23080069;22894880 659 Q13161;Q13873 ABBA01062560;ABBA01062561;ABBA01062562;ABBA01062563;ABBA01062564;ABBA01062565;ABBA01062566;ABBA01062567;ABBA01062568;ABBA01062569;ABBA01062570;ABBA01062571;ABBA01062572;ABBA01062573;ABBA01062574;ABBA01062575;ABBA01062576;AC009960;AC064836;AC073410;AK023426;AK093832;AK123579;AK292430;AMYH01011408;AMYH01011409;AMYH01011410;AMYH01011411;AY277593;BC018743;BC032011;BC035097;BC041039;BC043650;BC052985;BF063564;BG530017;BQ889263;BQ896556;BU176845;C15977;CH471063;D50516;DA787547;DB233604;NG_009363;NM_001204;U20165;Z48923 AAC50105;AAH52985;AAQ18032;AAX76517;AAX88941;AAY24146;BAA09094;BAF85119;CAA88759;EAW70309;EAW70310;NP_001195;Q13873 Hs.471119 1665836;1666030;1670131;1689049;1751007;1769397;1797330;1854354;1856984;2114657;5016478 BMPR2_2375;D2S2918;G31437;G31877;GDB:434012;RH48774;RH69577;RH69994;RH94008;SHGC-104910;SHGC-57059 BMPR-II;BMPR3;BMR2;BRK-3;FLJ41585;FLJ76945;PPH1;T-ALK BMP type II receptor;BMP type-2 receptor;BMPR-2;OTTHUMP00000164984;OTTHUMP00000164985;bone morphogenetic protein receptor type II;bone morphogenetic protein receptor type-2;bone morphogenic protein receptor, type ii (serine/threonine kinase);type II activin receptor-like kinase;type II receptor for bone morphogenetic protein-4 APPROVED protein-coding ENSG00000204217 1078 02880 178600;265450;600799 REVIEWED 1345685 BMS1 BMS1 homolog, ribosome assembly protein (yeast) This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009] 10 10 10 q11.21 39281288 39333715 + 42598265 42646856 + 43277954 43330385 + 1580863;6480464;6907045 19204726;16344560;15635413;15489334;12477932;11790298;11779832;11565749;10942432;8724849;21685912;19615732;18029348;19596686;19850743;19471022;21139048;21693764;21906983;21907836;22586326;22952844 9790 Q14692 ABBA01049992;ABBA01049993;AI184520;AI718109;AK308420;AL022344;AMYH01002282;BC043345;BC150252;BX485446;CH471160;D80009;DB064246;NM_014753 AAH43345;AAI50253;BAA11504;EAW86571;EAW86572;EAW86573;NP_055568;Q14692 Hs.10848 1678147;2109089;5114334 BMS1L_8992;RH15653;RH25401 BMS1L;KIAA0187 BMS1-like, ribosome assembly protein;OTTHUMP00000019477;bms1-like, ribosome assembly protein (yeast);ribosome assembly protein BMS1 homolog;ribosome biogenesis protein BMS1 homolog APPROVED protein-coding 23505 10689 611448 REVIEWED 1346721 BMS1P6 BMS1 pseudogene 6 10 10 q11.22 47805668 47819293 + 48185839 48203788 + 11779832;12477932;14702039 642826 AK094691;AL591684;AMYH01002428;BC008503;BC041413;BC051298;DB072344;NR_024495 Hs.463017;Hs.711898 2111133;5021228;5022578;5037552;5111598 D10S500E;D1S1423;D8S2279;GDB:312794;RH65856 BMS1LP6;bA302K17.2 pseudo 23654 VALIDATED 1319162 BNC1 basonuclin 1 The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. This gene seems to have multiple alternatively spliced transcript variants, but their full-length nature is not known yet. There seems to be evidence of multiple polyadenylation sites for this gene. [provided by RefSeq, Jul 2008] 15 15 q25.2 81715659 81744472 - 83924655 83953468 - 1580863;6480464 9099851;1332044;8034748;16891417;15146197;12477932;11076863;10839715;10524234;10462520;10449744;9727087;9687312;9223293;9151672;15694340;21741828;11802773 646 F5GY04;Q01954 ABBA01029436;ABBA01029437;AC103876;AI921950;AK302992;AMYH01006859;AMYH01006860;CH471188;CN260997;L03427;NM_001717;U59692;U59693;U59694 AAA35584;AAB53028;AAI11599;BAH13871;EAW62424;NP_001708;Q01954 Hs.459153 2142250;2219036 BNC1__4457;D15S670 BNC;BSN1;HsT19447 OTTHUMP00000190870;zinc finger protein basonuclin;zinc finger protein basonuclin-1 APPROVED protein-coding ENSG00000169594 1081 11799 601930 REVIEWED 1348562 BNIP3P1 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1 14 14 14 q12 8599094 8600625 + 27803285 27805017 + 28733635 28735166 + 319138 ABBA01061372;AL139023;AMYH01005627;NG_002516 1683401;2123419;2142467 RH70571;RH71202;RH80015 BNIP3P APPROVED pseudo 19922 INFERRED 5128958 BNIP3P2 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 2 22 16627944 16628475 - 100421754 ABBA01001476;AMYH01012401;AP000540;NG_027406 pseudo 39655 INFERRED 5128959 BNIP3P3 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 3 18 15247455 15247983 - 100421736 AMYH01008873;AP005901;NG_026278 pseudo 39656 INFERRED 5128993 BNIP3P4 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 4 9 q21.11 69823284 69823839 - 100289028 ABBA01148606;AL359955;AMYH01021298;NG_021623 pseudo 39657 INFERRED 5128962 BNIP3P5 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 5 15 15 19373573 19374288 + 42605882 42606585 + 100421724 ABBA01038379;AC022468;AMYH01006580;NG_025378 pseudo 39658 INFERRED 5128995 BNIP3P6 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 6 14 14 q11.2 18260626 18265750 + 19195192 19195723 + 16311020 100129777 CR383658;NG_022850 pseudo 39659 INFERRED 1605440 BMX BMX non-receptor tyrosine kinase This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Sep 2009] X X p22.2 15428821 15484573 + 15518900 15574652 + 6480464 12370298;11877430;8650201;16186805;17474147;9520419;7970727;18029348;19464057;18413754;18402776;18292575;18196928;18025155;17823122;16932810;16912182;15489334;15342556;15207703;14981536;14676838;14532277;12573241;12477932;11751885;11382770;11331870;11278797;11013262;10962576;10688651;10196179;9373245;9323053;8790141;16025104;22449076;21339702;20056178;20206622;20864667;20559570;19951526;21481791;22974441;21408190;21471444;21832049;21906983;16273093;18303054;21988832;22939624 660 P51813 ABBA01071313;ABBA01071314;ABBA01071315;ABBA01071316;ABBA01071317;ABBA01071318;ABBA01071319;AC097625;AF045459;AK291824;AK313568;AMYH01022107;BC016652;BP236451;BQ226991;CB998198;CH471074;NG_013227;NM_001721;NM_203281;U08341;X83107 AAA17744;AAC08966;AAH16652;ABM81985;ABM87813;BAF84513;BAG36341;CAA58169;EAW98889;EAW98890;NP_001712;NP_975010;P51813 Hs.495731 1342221;1702438;1703124;1734270;2156084;2159856;2162475;2171151;7186352 D4S2464E;DXS1053;DXS7016;DXS7320;DXS7664;DXS7970;DXS7972;SHGC-24715 ETK;PSCTK2;PSCTK3 BTK-like on X chromosome;Etk/Bmx cytosolic tyrosine kinase;NTK38 tyrosine kinase;OTTHUMP00000022964;OTTHUMP00000022965;OTTHUMP00000022966;bone marrow tyrosine kinase gene in chromosome X protein;cytoplasmic tyrosine-protein kinase BMX;epithelial and endothelial tyrosine kinase APPROVED protein-coding ENSG00000102010 1079 02111 300101 REVIEWED 1321747 BNC2 basonuclin 2 9 9 p22.2 16399501 16860786 - 16409501 16870786 - 6480464 18519826;20881960;16942855;16891417;16344560;15081112;14988505;14702039;12477932;15949438;18029348;19648919;19670330;19875614;20379614;20852632;19913121;20585627;20628086;21294870;21368915;21750727;21642636;21903422;19471022;23052946 54796 B1APH0;F5H586;H0Y4J1;H0Y6W5;Q6ZN30 ABBA01065255;ABBA01065256;ABBA01065257;ABBA01065258;ABBA01065259;ABBA01065260;AK000050;AK025882;AK092247;AK131398;AK299073;AK304745;AL162418;AL449983;AL450003;AL450105;AMYH01019254;AMYH01019255;AMYH01019256;AMYH01019257;AW188023;AY438376;BC037160;BX641030;CR933649;DA494074;DB282126;DQ884933;DQ884934;DQ884936;DQ884937;DQ884938;DQ884939;DQ884940;DQ884941;DQ884942;DQ884944;DQ884945;DQ884946;DQ884947;DQ884948;NM_017637;R69412 AAI56478;AAI72513;AAR99389;ABI78982;ABI78983;ABI78984;ABI78985;ABI78986;ABI78987;ABI78988;ABI78989;ABI78990;ABI78991;ABI78992;ABI78993;ABI78994;ABI78995;BAA90908;BAB15269;BAC03837;BAD18545;BAG61139;BAG65504;CAI45950;NP_060107;Q6ZN30 Hs.656581;Hs.693436;Hs.740070 1335204;1342375;1689819;1703926;1724771;1728153;1751125;1751659;1763197;1764609;1779458;1788932;2160866;2183737;2187543 D16S3069;D9S1089;D9S1839;G63499;RH122592;RH48002;RH92550;SHGC-104991;SHGC-105641;SHGC-146925;SHGC-148199;SHGC-153441;SHGC-83634;STS-H97910;UniSTS:224603 BSN2;DKFZp686A01127;FLJ20043;FLJ34928 OTTHUMP00000021079;OTTHUMP00000125286;OTTHUMP00000126958;zinc finger protein basonuclin-2 protein-coding ENSG00000173068 30988 12274 608669 VALIDATED 1319009 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. [provided by RefSeq, Mar 2011] 15 15 q22.2 57742356 57768778 - 59955061 59981642 - 634550;1580863;6480464;7240533 7954800;20626350 10799524;10381623;17961507;16189514;15652341;15489334;12944407;12901880;12477932;11744098;11741952;10954711;10551883;7478990;21130087;20704564;15923648;20677014;20855536;22863883;22623531;21139048;21890473 663 H7C096;H7C142;J3KN59;Q12982 ABBA01038956;ABBA01038957;AC092755;AK299628;AK308237;AMYH01006685;AY268590;BC002461;BX378770;CH471082;DC425485;NG_029765;NM_004330;U15173 AAC00021;AAH02461;AAP03429;ABM82882;ABM86068;BAG61556;EAW77575;EAW77576;NP_004321;Q12982 Hs.646490 1683162;1721427;1736498;1783248;1789805;2106963;2124801;2137189;2187032;5107615 BNIP2_7248;D15S1347;D15S703E;G59565;RH65383;SHGC-154946;SHGC-57103;STS-U15173;WI-7305;csnpbnip2-pcr1-1 BNIP-2;NIP2 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2;OTTHUMP00000163602 APPROVED protein-coding 1083 04481 603292 REVIEWED 732440 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011] 5 5 5 q33-q34 168604859 168624796 + 172504051 172523996 + 172571445 172591390 + 2314029;634759;6480464 19641503;12714334 22020994;7954800;15272311;15489334;12477932;10217402;7478990;1332047;19064571;17207965;21832049;22318606;21139048;21906983;21931693;22306654;22639046 662 H0YBK7;Q6K044 ABBA01044028;AC008378;AF083956;AF083957;AF083958;AMYH01015823;AU311051;AY216799;AY246554;BC010959;BP384034;CH471062;NM_001205;NM_013978;NM_013979;NM_013980;U15172 AAC00020;AAC33124;AAC33125;AAC33126;AAH10959;AAO61090;AAO91805;ADQ32671;EAW61405;EAW61406;EAW61407;EAW61408;EAW61409;EAW61410;EAW61411;EAW61412;EAW61413;NP_001196;NP_053581;NP_053582;NP_053583;Q12981 Hs.145726 1652136;1795444;2183520 BNIP1_1465;D5S2469;SHGC-10682 NIP1;SEC20;TRG-8 BCL2/adenovirus E1B 19 kDa protein-interacting protein 1;OTTHUMP00000161077;OTTHUMP00000161078;OTTHUMP00000161079;OTTHUMP00000223580;transformation-related gene 8 protein;vesicle transport protein SEC20 APPROVED protein-coding ENSG00000113734 1082 04480 603291 REVIEWED 1350585 BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein counteracts the apoptotic inducer BNIP3 and may play a role in tumor suppression. [provided by RefSeq, Mar 2011] 8 8 p21 26296440 26326561 + 26240523 26270644 + 1580863;2314029;6480464 19641503 22292033;10381623;9973195;19273585;18670647;18551130;18048346;17081983;16219518;16189514;15607964;15489334;14720367;12663450;12606722;12477932;11230166;10467396;9867803;9523198;16169070;19064571;20010802;20819778;21264228;17928295;21139048;21890473;21900206;22984526;23142642;22645275 665 B0AZS9;E5RFE9;H0YBC7;O60238;Q6IBV1 AA946755;AB004788;ABBA01005571;ABBA01005572;AC011726;AC022911;AF060922;AF067396;AF079221;AF255051;AF452712;AF536326;AK290213;AK300286;AK300727;AK307195;AK315870;AK316315;AL132665;AMYH01018593;BC001559;BC009603;BF337139;BQ719112;BT019500;BT019501;CD244492;CD558918;CH471080;CR456701;NM_004331 AAC27723;AAD03589;AAF70290;AAG43134;AAH01559;AAH09603;AAL50978;AAN04051;AAV38307;AAV38308;ACE86738;ACE87424;ADZ15845;BAA28692;BAF82902;BAF98761;BAG62043;BAG62400;BAH14686;CAG32982;CAI46217;EAW63576;NP_004322;O60238 Hs.131226 1658784;1666960;1699560;1723225;1739193;1770524;1771798 D8S1556;D8S1934;D8S2073;RH103380;RH122296;RH36518;STS-Z40756 BNIP3a;NIX BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like;BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A;BCL2/adenovirus E1B 19-kd protein-interacting protein 3a;NIP3-like protein X;NIP3L;OTTHUMP00000125280;OTTHUMP00000225446;OTTHUMP00000225447;OTTHUMP00000225448;OTTHUMP00000225568;adenovirus E1B19k-binding protein B5 APPROVED protein-coding ENSG00000104765 1085 07288 605368 REVIEWED 1350913 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein contains a BH3 domain and a transmembrane domain, which have been associated with pro-apoptotic function. The dimeric mitochondrial protein encoded by this gene is known to induce apoptosis, even in the presence of BCL2. [provided by RefSeq, Mar 2011] 10 10 q26.3 133631194 133645425 - 133781204 133795435 - 634550;1580863;2314028;2314029;5128796;6480464;6484113 7954800;14972662;19641503;20157446 21210091;21293853;10381623;9396766;10891486;9973195;19339613;19273585;19088195;18838203;18728663;18551130;18371312;18359286;18163427;18092960;18059169;17928295;17786027;17729412;17638890;17638546;17600828;17576813;17576382;17394490;17360363;17255267;16803523;22505714;16799636;16765911;16357180;16219518;16217754;16189514;16169070;16002567;15856026;15709167;15560738;15489334;15328198;15289340;15164054;12879018;12690108;12477932;12215374;10625696;9867803;9575197;8125298;7478990;20436456;18029348;19505343;19535684;19641497;19668230;19690192;19956881;20026130;20082478;20100468;20201926;20437871;20637734;20978322;17207965;20855536;20973794;22455137;20368736;21573703;19593445;21152877;19799812;18476629;19060904;21988832;23000965;23160801;20963496;21792176;23142642;23209295;21318419;21409489;21711117;20801175;21911457;21139048;21906983;21963094;21987236;22302006;22292033;22173550;22458929;22639046 664 B4DHJ7;Q12983 ABBA01006172;AF002697;AK222626;AK295136;AL162274;AL732395;AMYH01003195;AY886764;BC009342;BC021989;BC067818;BC080643;CH471066;CQ975900;NM_004052;U15174 AAC00022;AAC16738;AAH21989;AAH67818;AAH80643;AAW62256;ADQ33204;BAD96346;BAG58159;CAI45349;EAW49143;NP_004043;Q12983 Hs.144873 1645003;1683401;1712080;1795446;2123419;2142467;5015881;5037552 BNIP3_1789;D8S2279;G54089;GDB:335751;RH70571;RH71202;RH80015;STS-R06072 NIP3 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3;OTTHUMP00000020752 APPROVED protein-coding 1084 04482 603293 REVIEWED 2946885 BOK-AS1 BOK antisense RNA 1 2 2 q37.3 236152251 236166494 - 242483799 242498558 - 19287972 100379249 ABBA01006052;ABBA01006053;ABBA01006054;AC110299;AMYH01011633;FJ185168;NR_033346 Hs.621128 BOK-AS;BOKAS;NAToB;NCRNA00151 APPROVED miscrna 35125 PROVISIONAL 1345757 BOD1L2 biorientation of chromosomes in cell division 1-like 2 18 18 18 q21.31 51531573 51534919 + 52965284 52966839 + 54814293 54817639 + 737633;6480464 12477932 17938248;15489334 284257 B4DX39;Q8IYS8 ABBA01056127;AC100775;AK127964;AK301799;AMYH01009021;BC021740;BC035018;NM_001257964 BAG54606;BAG63251;NP_001244893;Q8IYS8 Hs.127882 1699774;2169609 D5S2321;RH103493 BOD1P;FAM44C;MGC33608 biorientation of chromosomes in cell division 1 pseudogene;biorientation of chromosomes in cell division protein 1-like 2;family with sequence similarity 44, member C;putative biorientation of chromosomes in cell division protein 1 pseudogene;putative biorientation of chromosomes in cell division protein 1-like 2;putative protein FAM44C APPROVED protein-coding ENSG00000228075 28505 VALIDATED 1348370 BOD1 biorientation of chromosomes in cell division 1 5 5 5 q35.2 169066406 169075924 - 172967146 172976262 - 173034148 173043666 - 737633;6480464 12477932 17938248;16344560;15489334;21832049;21890473;21906983;21963094;20881960 91272 C9J8U9;C9JNZ5;H7C5I4;Q96IK1 ABBA01044019;AC010339;AK301982;AMYH01015830;AY303777;BC003114;BC007436;BQ881883;CH471062;DA506589;DA953541;NM_001159651;NM_138369 AAH03114;AAH07436;AAP76182;BAG63390;EAW61396;NP_001153123;NP_612378;Q96IK1 Hs.425091 1848775;2147745;2169609 A002Q30;D5S2321;WI-12001 FAM44B OTTHUMP00000161101;OTTHUMP00000213248;biorientation defective 1;biorientation defective protein 1;biorientation of chromosomes in cell division protein 1;family with sequence similarity 44, member B protein-coding ENSG00000145919 25114 13309 VALIDATED 1605311 BOC BOC cell adhesion associated, oncogene regulated The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. [provided by RefSeq, Sep 2011] 3 3 3 q13.2 111339962 111414896 + 114414065 114488996 + 112931375 113006306 + 5510025;5490966;6480464;6484113 20844013;18772397 11782431;16647304;15520228;14702039;12975309;12720294;12634428;12477932;8889548;16169070;20053908;20306291;20519495;15923648;23259602 91653 C9J2L7;C9J7V2;C9J9M5;C9JZ38;H7C4U8;H7C5J2;Q96DN7;Q9BWV1 ABBA01061654;ABBA01061655;AC026329;AK056359;AK074556;AK090455;AK309055;AL133599;AMYH01013394;AY027658;AY358328;BC032071;BC034614;BC075829;BC136390;BM673254;BX647184;CH471052;NM_033254 AAH34614;AAI36391;AAK14795;AAQ88694;ADZ15974;BAB71163;BAC03436;BAC11057;EAW79643;EAW79644;EAW79645;EAW79646;NP_150279;Q9BWV1 Hs.591318 1681556;1689769;2111025;2157338 D3S1493E;RH126917;RH93384;SHGC-57979 CDON2 Boc homolog;OTTHUMP00000214765;OTTHUMP00000214766;brother of CDO;brother of CDON;cell adhesion associated, oncogene regulated 2 APPROVED protein-coding ENSG00000144857 17173 608708 VALIDATED 1319839 BNIPL BCL2/adenovirus E1B 19kD interacting protein like The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q21.3 124118004 124135383 + 149275658 149286699 + 151009029 151020076 + 6480464 12901880;11741952;12681488;17562024;16710414;16344560;16143817;15489334;15112343;14702039;12477932;9973195;20800603;20383146;22318606 149428 A2A492;F8W685;Q7Z465 ABBA01049367;ABBA01049368;AF193056;AK092595;AL590133;AMYH01001386;AY033000;AY078983;AY078984;BC027868;BC074779;BC074780;CD687603;CH471121;CU451236;DB202257;NG_029720;NM_001159642;NM_138278 AAG22484;AAH27868;AAH74779;AAH74780;AAK54348;AAL85483;AAL85484;EAW53483;EAW53484;NP_001153114;NP_612122;Q7Z465 Hs.591473 1674806;1697834;1701632;1735380;1770794;2170512;2187329;5037552 A004A12;D1S1855E;D1S2426;D8S2279;RH102442;RH104459;SHGC-57518;SHGC-57939 BNIP-S;BNIPL-1;BNIPL-2;BNIPL1;BNIPL2;BNIPS;PP753 BNIP-2 similar;OTTHUMP00000033115;OTTHUMP00000033116;OTTHUMP00000192926;bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein APPROVED protein-coding ENSG00000163141 16976 16557 611275 REVIEWED 1344806 BOD1L1 biorientation of chromosomes in cell division 1-like 1 4 4 4 p16.1 14036574 14095541 - 13179464 13238426 - 13570366 13629328 - 6480464 17081983;15489334;14702039;12477932;10718198;20379614;17370265;22108332;20972266;21139048;21628590;18654987 259282 F8WDD0;H0Y9Y2;Q8NFC6 AB037748;ABBA01032544;ABBA01032545;AC006445;AF528529;AK025361;AK025965;AK090534;AK122806;AK298130;AL137350;AL137652;AMYH01014007;AMYH01014008;BC016987;BC043603;BC065546;BC087835;BX648206;CH471069;NM_148894 AAH16987;AAH65546;AAH87835;AAI72451;AAM94279;BAA92565;BAB15299;BAG60410;CAB70705;EAW92716;NP_683692;Q8NFC6 Hs.444517 1341187;1647368;1664331;1696782;1739055;2124505;2132152;2132154;2144154;2175011 D4S1364;D4S2311;D4S259;D4S2669;D4S2702;D4S3194;RH16627;SHGC-36204;SHGC-51764;SHGC-82934 BOD1L;FAM44A;FLJ33215;KIAA1327 OTTHUMP00000115820;biorientation of chromosomes in cell division protein 1-like;biorientation of chromosomes in cell division protein 1-like 1;family with sequence similarity 44, member A APPROVED protein-coding ENSG00000038219 31792 08156 VALIDATED 737138 BOK BCL2-related ovarian killer The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011] 2 2 q37.3 242146865 242162226 + 242498146 242513553 + 70678;1580863;2313975;6480464;1624238 9356461;17322918;15964663 19287972;16772296;16302269;15868100;15775999;15489334;15102863;12477932;11034351;10811653;10579309;9535847;20171287;19942931;20673843;19095301;15146197;15342556;22623531;21900206;21906983 666 Q9UL32;Q9UMX3 ABBA01006054;ABBA01006055;ABBA01006056;AC110299;AC133528;AF174487;AMYH01011633;BC006203;BC017214;BG118500;BI550157;BP332256;BT007272;BU855574;BX372066;BX395656;BX460019;CD368092;CH471063;CN279174;CN279175;H17007;NG_029488;NM_032515 AAD51719;AAP35936;AAY14684;AAY14917;ABM84167;ABM87570;EAW71268;EAW71269;EAW71270;EAW71271;EAW71272;EAW71273;EAW71274;NP_115904;Q9UMX3 Hs.293753;Hs.734656 1682079;1690900;1740179;2126819;2153849 D2S2142;G42020;RH78529;RH80183;RH91690 BCL2L9;BOKL;MGC4631 OTTHUMP00000164606;bcl-2-like protein 9;bcl-2-related ovarian killer protein;bcl2-L-9;hBOK APPROVED protein-coding ENSG00000176720 1087 05657 605404 REVIEWED 1605757 BOLA2 bolA homolog 2 (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. [provided by RefSeq, Jul 2008] 16 16 p11.2 29362071 29373786 - 29464914 29466285 - 6480464 21145461;18548201;15489334;14718656;12665801;12477932;21628590;18781797;17620599;22505724 552900 Q9H3K6 AC133555;AF060511;AK027255;AK295153;AMYH01007494;BC022832;BC062756;BC104642;BC130401;BC130403;BC144688;BG032591;NM_001031827 AAG43129;AAH22832;AAI30402;AAI30404;AAI44689;BAG58169;NP_001026997 Hs.444600;Hs.655267;Hs.744243 5017266;5022450;5112199;5113701 D10S275;L18506;RH102308;RH76583 BOLA2A;My016 BolA-like protein 2;BolA-like protein 2 member A;bolA-like 2 APPROVED protein-coding ENSG00000183336 29488 613182 REVIEWED 1606296 BOLA1 bolA homolog 1 (E. coli) 1 1 1 q21 122987125 122988318 + 148137825 148138969 + 149871155 149872348 + 6480464 17353931;18029348;18548201;16964243;16710414;15489334;14718656;12477932;12107410;10810093;17207965;20877624;21832049;22746225 51027 Q9Y3E2 ABBA01049314;AC239868;AF151901;AK313014;AL591493;AMYH01001373;BC002771;BC063405;CA389141;CH471121;CS072310;NM_016074 AAD34138;AAH63405;ADQ33110;BAG35849;CAI12571;CAI93448;EAW53599;EAW53600;EAW53601;EAW53602;NP_057158;Q9Y3E2 Hs.13880 1660592;1853404;2133185;2183505 A003N45;RH18368;STS-Z40409;WI-16272 CGI-143;MGC75015;RP11-196G18.18;hBolA OTTHUMP00000013910;OTTHUMP00000013911;bolA-like 1;bolA-like protein 1 protein-coding ENSG00000178096 24263 13036 613181 VALIDATED 1605447 BOLA2B bolA homolog 2B (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene. [provided by RefSeq, Jul 2008] 16 16 p11.2 30111757 30113128 - 30204256 30205627 - 12477932;15489334;14718656;12665801;21145461;22939629;17620599;21628590;22505724 654483 H3BPT9;H3BV85;Q9H3K6 ABBA01013099;AC106782;AMYH01007497;BC137532;BC137534;NM_001039182 AAI37533;AAI37535;AAI48565;AAI53145;NP_001034271;Q9H3K6 Hs.647333 BOLA2 BolA-like protein 2 member B;bolA-like 2B;bolA-like protein 2;bolA-like protein 2B APPROVED protein-coding ENSG00000169627 32479 REVIEWED 1606380 BOLA3 bolA homolog 3 (E. coli) This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011] 2 2 2 p13.1 74193755 74206266 - 74216036 74228547 - 74362528 74375039 - 6480464 18548201;15815621;14718656;12477932;20379614;21944046 388962 Q53S33;Q8N338 ABBA01075598;AC073263;AI652095;AMYH01010454;BC017744;BC028282;BC042036;BC046531;BU600037;CH471053;DQ225187;NG_031910;NM_001035505;NM_212552 AAH28282;AAI48672;AAI53209;AAX93059;ABB04094;EAW99699;EAW99700;NP_001030582;NP_997717;Q53S33 Hs.61472 2121215;2170420 SGC32756;WI-21646 MMDS2 OTTHUMP00000202551;OTTHUMP00000202552;bolA-like 3;bolA-like protein 3 APPROVED protein-coding ENSG00000163170 24415 14209 613183;614299 REVIEWED 5490477 BOLA3-AS1 BOLA3 antisense RNA 1 (head to head) 2 74375108 74379516 + 12477932;14702039;16344560 100507171 ABBA01075598;AC073263;AK123453;AMYH01010454;BC007916;BC008757;BC015635;BC030102;DA356576;NG_031910;NR_045634;NR_045636;NR_045637 Hs.503348 2170420 WI-21646 FLJ41459 APPROVED miscrna ENSG00000225439 42922 VALIDATED 1352689 BOLL bol, boule-like (Drosophila) This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q33 198299856 198359183 - 198591603 198650938 - 1580863;6480464 16001084;12499397;11390979;19342699;18997786;17114206;15705409;15489334;15379971;15070965;15066460;14702039;12477932;8657280;12511597;17207965;19417033;19865085;21474125 66037 B4DZA4;F2Z2G3;F8WD91;Q8N9W6 ABBA01062490;AC011997;AF272858;AI424966;AK058099;AK093453;AK097795;AK098824;AK302817;AM295005;AMYH01011390;AMYH01011391;BC033674;CH471063;HC044489;NM_033030;NM_197970 AAH33674;AAK58689;AAX93045;ADQ32687;BAB71664;BAC04171;BAG64016;CAL25726;CBH30574;EAW70171;EAW70172;EAW70173;NP_149019;NP_932074;Q8N9W6 Hs.169797 1691260;1794698 PMC34683P2;RH98575 BOULE OTTHUMP00000163625;OTTHUMP00000163626;OTTHUMP00000163627;OTTHUMP00000205805;protein boule-like APPROVED protein-coding ENSG00000152430 14273 606165 VALIDATED 1347316 BPESC1 blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) 3 3 3 q23 137249298 137266864 + 138823027 138844009 + 138823027 138844009 + 6480464 15489334;12477932;10995571 60467 Q9GZL8 ABBA01059065;ABBA01059066;AC069525;AF196864;AF196865;AMYH01013536;AMYH01013537;AMYH01013538;BC119686;BC119687;CH471052;NR_026783 AAG23726;AAG23727;EAW79046;Q9GZL8 Hs.512673 1696522 SHGC-83243 NCRNA00187 miscrna ENSG00000232416 13228 16559 VALIDATED 1605625 BORA bora, aurora kinase A activator BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008] 13 13 13 q22.1 54200530 54228790 + 72200043 72228329 + 73302042 73330328 + 6480464 19487276;18615013;18566290;18521620;18378770;16890155;15489334;15057823;14702039;12477932;11935316;16169070;19596235;19615732;20923822;23592782;22990118;20360068 79866 B4DQ30;H3BLY2;Q6PGQ7 ABBA01050335;ABBA01050336;AK026277;AK291496;AK298608;AK300758;AL138695;AMYH01005201;BC007119;BC025367;BC044213;BC056876;BM923278;BX648605;CH471093;EU834129;NM_024808 AAH07119;AAH25367;AAH44213;AAH56876;ACE86935;ACE86991;ACE87006;ACE87621;ACE87680;ACE87694;ACH72049;BAB15426;BAF84185;BAG60792;BAG62424;EAW80514;EAW80515;NP_079084;Q6PGQ7 Hs.643464 1662198;1677280;1738439;1739623;2126764;2169355;2176579;2180629 1730;D13S1090E;D13S1212E;RH15742;RH67956;RH92143;SHGC-34349;WI-20990 C13orf34;FLJ22624;RP11-342J4.2 OTTHUMP00000018495;aurora borealis;hsBora;protein aurora borealis APPROVED protein-coding ENSG00000136122 24724 13389 610510 VALIDATED 1352137 BPI bactericidal/permeability-increasing protein This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has bactericidal activity on gram-negative organisms. [provided by RefSeq, Jul 2008] 20 20 q11.23 36365966 36399319 + 36932552 36965905 + 1580079;1580863;6480464 15758620 8409400;2722846;19275920;17898994;17678885;17675509;17483073;17239348;17012258;16893388;16861658;16380496;16282362;15590754;15342556;15009116;14623259;12913926;12784398;12738651;12710851;12521224;12477932;11891303;11780052;11420435;11373419;9616176;9240454;9188532;8432532;8330906;7517398;3667613;2501794;20889312;19423540;19692168;19702878;20174761;20237496;20406964;20438785;20463618;20541026;20412700;17488601;19913121;20628086;21272798;22409502;21787345;21463973 671 A2A2A1;A2A2A2;H0Y738;Q9H203 ABBA01006644;ABBA01006645;ABBA01052519;ABBA01052520;ABBA01156452;AF322588;AI436120;AK296568;AK315328;AL359555;AL391095;AL391692;AL499625;AL583962;AMYH01011904;AX713278;AX746123;AX752831;BC032230;BC040955;BP306215;CH471077;CQ800679;DQ414688;J04739;NM_001725;Y14215;Y14216;Y14217;Y14218;Y14219;Y14220;Y14221;Y14222;Y14223;Y14224;Y14225;Y14226;Y14227;Y14228;Y14229 AAA51841;AAG42844;AAH40955;ABD66755;BAG37729;BAG59188;CAD88641;CAD97475;CAD99178;CAG28072;EAW76035;NP_001716;P17213 Hs.529019 1780442;1855187;2148258;2150649;2217072 BPI_2849;D20S1064;SGC32792;SHGC-12397;stbA2202H1A BPIFD1;rBPI BPI fold containing family D, member 1;CAP 57;OTTHUMP00000030962;OTTHUMP00000030963;bactericidal permeability-increasing protein;recombinant BPI holoprotein, rBPI APPROVED protein-coding ENSG00000101425 1095 00174 109195 REVIEWED 1316844 BPHL biphenyl hydrolase-like (serine hydrolase) This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] 6 6 p25 3064041 3098288 + 3118926 3153432 + 6480464 7759552;18256025;18163890;16316342;16028355;15832508;14574404;12732646;12477932;9721218;8889548;2393862;20237496;20877624;21890473 670 B4DML3;F2Z2Q1;H7C0M3;Q49AI2;Q86WA6 ABBA01048621;AJ001980;AJ617684;AK297518;AK314909;AL031963;AL832502;AMYH01016029;BC037778;BC106901;BM977067;CH471087;DC352501;NM_004332;NR_026648;NR_026649;NR_026650;X57653;X81372 AAH37778;AAI06902;BAG37421;BAG59925;CAA40859;CAA57137;CAE85120;EAW55119;EAW55120;EAW55121;EAW55122;EAW55123;NP_004323;Q86WA6 Hs.10136 1650686;1655909;2145691;2177581;2219038;5014063;5016781 BPHL__4461;D15S1390;D6S1890;D6S2134;RH46711;SHGC-35542;SHGC-67307 BPH-RP;MCNAA;MGC125930;MGC41865;VACVASE OTTHUMP00000015958;OTTHUMP00000211210;biphenyl hydrolase-like protein;biphenyl hydrolase-related protein;breast epithelial mucin-associated antigen;valacyclovir hydrolase;valacyclovirase APPROVED protein-coding ENSG00000137274 1094 04403 603156 REVIEWED 1321585 BOP1 block of proliferation 1 8 8 q24.3 145456864 145485928 - 145486056 145515120 - 1580863;6480464 16804918;16043514;16738141;17353269;18809582;17353931;17081983;16964243;21145461;16565220;15635413;15489334;15225545;12477932;12429849;12048210;11790298;11522832;11390653;11237751;9829985;8590280;19615732;22863883;21386990;21252943;22939629;21520196;21900206;22178446;21139048;21890473;21906983;22586326 23246 E9PIF8;E9PP64;E9PRN9;Q14137 AB060694;ABBA01005217;ABBA01005218;AC110280;AC145291;AC233992;AK024840;AK290677;AK293719;AK310015;AK315612;BC001086;BC005160;BC007274;BC013787;BC013980;BC017674;BC073813;BC098446;BE280443;BQ961780;CH471162;D50914;NM_015201 AAH01086;AAH05160;AAH07274;AAH13787;AAH13980;AAH17674;AAH73813;AAH98446;ABM87814;ABW03699;BAA09473;BAB70666;BAF83366;BAG37981;BAG57150;EAW82133;NP_056016;Q14137 Hs.645279 2148557;5095892 RH25347;WI-17683 KIAA0124 OTTHUMP00000228465;block of proliferation 1 protein;ribosome biogenesis protein BOP1 protein-coding ENSG00000170727 15519 16558 610596 VALIDATED 1605438 BPGM 2,3-bisphosphoglycerate mutase 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] 7 7 q33 133982095 134015108 + 134331531 134364568 + 6480464;6907045;7240710 2542247;17052986;16344560;15489334;15258155;14702039;12690205;12477932;9832630;9308888;8889548;8440681;6313356;3036106;3023066;2844822;2824335;1387804;1320611;152321;17207965;21045285;22939629;18624398;21890473;21988832;23000965 669 C9JH23;P07738 AACC02000025;AB209044;ABBA01001110;AC009276;AK097778;AK315439;AMYH01017954;BC017050;BM090687;BU608668;BU664387;BX473275;CB994648;CF242942;CH236950;CH471070;DB047822;DB049554;HH770041;HH770403;M23068;NG_012921;NM_001724;NM_199186;X04327 AAA51840;AAH17050;ADQ31825;BAD92281;BAG37827;BAG53525;CAA27858;CBX85738;CBX85919;EAL24067;EAW83821;EAW83822;EAW83823;EAW83824;NP_001715;NP_954655;P07738 Hs.198365 1647068;1711448;1776002;1786220;1852853;1858387;2140183;2152912;2172630 BPGM;D7S2792;D7S2829;D7S697;RH16501;SHGC-107197;SHGC-34608;STS-X04327;WI-17404 DPGM 2,3-bisphosphoglycerate mutase, erythrocyte;2,3-bisphosphoglycerate synthase;2,3-diphosphoglycerate mutase;BPG-dependent PGAM;OTTHUMP00000207868;OTTHUMP00000207869;OTTHUMP00000207870;bisphosphoglycerate mutase;erythrocyte 2,3-bisphosphoglycerate mutase APPROVED protein-coding ENSG00000172331 1093 01961 222800;613896 REVIEWED 736029 BPIFA1 BPI fold containing family A, member 1 This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The exact biological function of this gene is not known, however, it has been suggested to be involved in inflammatory responses to irritants in the upper airways. It may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2011] 20 20 q11.2 31287463 31294773 + 31823802 31831115 + 1580863;6480464 22213098;17988392;17785110;16713569;16364440;16195890;15489334;15313462;15158712;12975309;12920053;12874788;12753706;12477932;12409287;11821380;11788998;11780052;11251963;11018263;11971875;11425234;19336370;18513434;18245229;18204429;18049866;21787333;22676062;22889411;18646695;19541605;19650845;17207965;20161732;20949060;20519934;19119597;21787339;21632717;21200090;21787346;16196087;20360068;20855242;21805676;23132494;23472073;23371910 51297 A6XMV5;Q9NP55 AB024937;ABBA01019237;AF158745;AF172993;AF214562;AF417256;AF417257;AF421369;AF439448;AK292778;AL121901;AMYH01011853;AY359020;BC012549;CH471077;DQ846869;NM_001243193;NM_016583;NM_130852 AAF70860;AAF82622;AAG13653;AAH12549;AAL87636;AAO12198;AAO12199;AAO12200;AAQ89379;ABI63356;ADQ31860;BAA93633;BAF85467;EAW76327;EAW76328;EAW76329;NP_001230122;NP_057667;NP_570913;Q9NP55 Hs.211092 1341027;1759185;5095944;5124755 D20S195;GDB:313139;RH99153;SHGC-151139 LPLUNC3;LUNX;NASG;PLUNC;SPLUNC1;SPURT;bA49G10.5 BPI fold-containing family A member 1;OTTHUMP00000030625;OTTHUMP00000030626;OTTHUMP00000030627;ligand-binding protein RYA3;lung-specific protein X;nasopharyngeal carcinoma-related protein;palate lung and nasal epithelium clone protein;palate, lung and nasal epithelium associated;palate, lung and nasal epithelium carcinoma associated;protein Plunc;secretory protein in upper respiratory tracts;tracheal epithelium enriched protein;tracheal epithelium-enriched protein;von Ebner protein Hl APPROVED protein-coding ENSG00000198183 15749 07594 607412 REVIEWED 1347929 BPIFA3 BPI fold containing family A, member 3 20 20 20 q11.21 28559029 28569457 + 31268796 31279220 + 31805135 31815559 + 12477932;11971875;11780052;21787333 128861 Q9BQP9 ABBA01019237;AI073399;AL121901;AMYH01011853;AW082233;BC041904;BC066354;BF966133;CH471077;DB446335;HC006830;HC044549;NM_001042439;NM_178466 AAH66354;CBH19221;CBH30604;EAW76330;EAW76331;EAW76332;EAW76333;NP_001035904;NP_848561;Q9BQP9 Hs.360989 C20orf71;MGC44525;SPLUNC3 BPI fold-containing family A member 3;OTTHUMP00000030630;OTTHUMP00000030631;short long palate, lung and nasal epithelium carcinoma associated 3;short palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000131059 16204 12782 VALIDATED 1344811 BPIFB4 BPI fold containing family B, member 4 20 20 20 q11.21 28423195 28453431 + 31134416 31163218 + 31669318 31699557 + 12887310;12837268;11971875;11780052;20237496;21787333 149954 F8WEG9;P59827 ABBA01019244;ABBA01019245;AF549190;AL121756;AMYH01011853;CH471077;NM_182519 AAI40294;AAI46506;AAP84990;EAW76336;EAW76337;NP_872325;P59827 Hs.38961 1658879;1673012;1705652 SHGC-83399;WI-18281;Z94439 C20orf186;LPLUNC4;RY2G5;dJ726C3.5 BPI fold-containing family B member 4;OTTHUMP00000030615;ligand-binding protein RY2G5;likely ortholog of rat probable ligand-binding protein RY2G5;long palate, lung and nasal epithelium carcinoma associated 4;long palate, lung and nasal epithelium carcinoma-associated protein 4 APPROVED protein-coding ENSG00000186191 16179 16645 VALIDATED 5465740 BPIFB5P BPI fold containing family B, member 5, pseudogene 20 31904675 31917368 + 6480464 12887310;15106612;20210993;21787333 100505383 ABBA01019236;ABBA01019237;AL355392;AMYH01011854;NG_027787 pseudo 42177 INFERRED 1350495 BPIFB9P BPI fold containing family B, member 9, pseudogene 20 q11.21 31934926 31942850 + 21787330;21787333 402016 ABBA01019235;AL355392;AMYH01011854;NG_029803;XM_377675 C20orf115;dJ1187J4.2;dJ1187J4.3 APPROVED pseudo 16109 INFERRED 1351299 BPIFA2 BPI fold containing family A, member 2 20 20 20 q11.21 28509850 28523113 + 31219621 31232884 + 31755960 31769223 + 6480464 19499239;18221458;16740002;15489334;12975309;12477932;11971875;11780052;17207965;21787333;21833535 140683 Q6ZNV9;Q96DR5 ABBA01019238;AF432917;AK130543;AK130550;AK291854;AL121901;AMYH01011853;AY359055;BC065726;CH471077;NM_080574 AAH65726;AAL28113;AAQ89414;ADQ32051;BAC85378;BAF84543;EAW76335;NP_542141;Q96DR5 Hs.125960 5017170;5020948;5022578;5109281 D1S1423;D1S1425;G35510;L29953 C20orf70;PSP;SPLUNC2;bA49G10.1 BPI fold-containing family A member 2;OTTHUMP00000030628;OTTHUMP00000164442;parotid secretory protein;short palate, lung and nasal epithelium carcinoma associated 2;short palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000131050 16203 12781 VALIDATED 2303462 BPIFA4P BPI fold containing family A, member 4, pseudogene 20 20 20 q11.21 28535301 28552159 + 31249679 31259208 + 31781411 31798268 + 18172302;17362520;15489334;14739326;12538848;12477932;11780052;21787333 317716 ABBA01019237;AL121901;AMYH01011853;AY180924;AY389991;AY389992;BC069128;BC069315;BC128240;BC128241;CH471077;NR_026760 AAO17728;EAW76334 Hs.434194 BASE;RP11-49G10.8 APPROVED pseudo ENSG00000183566 20469 06359 607627 PROVISIONAL 1604466 BPIFB3 BPI fold containing family B, member 3 20 20 20 q11.21 28397115 28415310 + 31106891 31125095 + 31643230 31661434 + 6480464 17353931;11971875;12837268;12477932;11780052;20237496;21787333 359710 P59826;Q14DE0 ABBA01019245;AF549189;AL121756;AMYH01011853;BC113398;BC113400;CH471077;NM_182658 AAI13399;AAI13401;AAP84989;ADR83194;EAW76338;NP_872599;P59826 Hs.472442 C20orf185;LPLUNC3;RYA3;dJ726C3.4 BPI fold-containing family B member 3;OTTHUMP00000030614;ligand-binding protein RYA3;long palate, lung and nasal epithelium carcinoma associated 3;long palate, lung and nasal epithelium carcinoma-associated protein 3 APPROVED protein-coding ENSG00000186190 16178 16644 PROVISIONAL 1322016 BPIFB2 BPI fold containing family B, member 2 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28349284 28365392 + 31059068 31075176 + 31595407 31611515 + 1580863;6480464 16740002;15489334;15340161;12975309;12837268;12477932;12185532;11971875;11780052;11018263;20237496;21787333;15342556 80341 Q8N4F0 ABBA01019245;ABBA01019246;AF465765;AK027068;AK172819;AK304064;AL121756;AMYH01011852;AY358723;BC034415;BP333980;CH471077;NG_016714;NM_025227 AAH34415;AAM73983;AAQ89085;ABM83406;ABM86617;BAD18788;BAG64971;EAW76341;NP_079503;Q8N4F0 Hs.257045 BPIL1;C20orf184;LPLUNC2;RYSR;dJ726C3.2 BPI fold-containing family B member 2;BPI-like 1;OTTHUMP00000030612;bactericidal/permeability-increasing protein-like 1;long palate, lung and nasal epithelium carcinoma-associated protein 2 APPROVED protein-coding ENSG00000078898 16177 10690 614108 REVIEWED 1343435 BPIFB1 BPI fold containing family B, member 1 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 28624683 28651429 + 31334602 31361345 + 31870941 31897684 + 6480464 19212328;15489334;14702039;12975309;12874788;12477932;11971875;11780052;20237794;17207965;21628590;21787333;21900486;20360068;22767025 92747 A2A2R0;Q9H4V6 ABBA01019237;AF364078;AK127971;AK290243;AK310964;AK313176;AL121901;AL355392;AMYH01011854;AW449208;AY358595;BC008429;CD696225;CH471077;NM_033197 AAH08429;AAM00283;AAQ88958;ADQ32773;BAC87212;BAF82932;BAG35993;EAW76326;NP_149974;Q8TDL5 Hs.65551 2121559 AL023479 C20orf114;LPLUNC1;MGC14597 BPI fold-containing family B member 1;OTTHUMP00000043374;VEMSGP;long palate, lung and nasal epithelium carcinoma associated 1;long palate, lung and nasal epithelium carcinoma-associated protein 1;von Ebner minor salivary gland protein APPROVED protein-coding ENSG00000125999 16108 12740 REVIEWED 1352551 BPY2 basic charge, Y-linked, 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008] Y Y q11 23539798 23561000 + 25130410 25151612 + 1580863;6480464 17511727;15177557;14627543;12815422;12724276;12207887;9381176;20039973;9847074;20301513 9083 O14599;R4GMN0 ABBA01017884;AC006366;AF000980;NG_004755;NG_009862;NM_004678 AAC51828;NP_004669;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2A;BPY2B;BPY2C;VCY2;VCY2A OTTHUMP00000064811;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183753 13508 02454 400013 REVIEWED 1344816 BPY2B basic charge, Y-linked, 2B This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 10935977 10957180 + 25173539 25194742 + 26764151 26785354 + 6480464 15177557;14627543;12815422;12724276;12207887;9381176;9847074 442867 O14599;R4GMN0 AC010153;CH471236;NG_004755;NM_001002760 AAI40268;EAW55859;NP_001002760;O14599 Hs.632848 5021232;5107387 G34986;G65869 BPY2;BPY2C;VCY2;VCY2B OTTHUMP00000042594;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000183795 25449 12530 REVIEWED 1353479 BPY2C basic charge, Y-linked, 2C This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008] Y Y q11.223 25586436 25607639 - 27177048 27198251 - 12207887;14627543;9381176;12724276;15177557;12815422;9847074 442868 O14599;R4GMN0 AC016728;NG_004755;NM_001002761 AAI48465;AAI56665;NP_001002761;O14599 Hs.664724 5021232;5107387 G34986;G65869 BPY2;BPY2B;VCY2;VCY2C OTTHUMP00000042658;basic charge, Y-linked 2;basic protein on Y chromosome 2;testis-specific basic protein Y 2;testis-specific basic protein on Y, 2;variable charge, Y-linked, 2;variably charged protein Y 2 APPROVED protein-coding ENSG00000185894 18225 18658 REVIEWED 1346538 BRAFP1 v-raf murine sarcoma viral oncogene homolog B pseudogene 1 X X X q13.3 75085812 75089167 + 74719192 74719965 + 74802489 74805844 + 1630826 286494 ABBA01059432;AC020717;AMYH01022618;NG_003108;X65188 BRAF2;BRAFPS2 APPROVED pseudo 18615 INFERRED 6769428 BPY2DP basic charge, Y-linked, 2D, pseudogene Y p11.2 7794130 7817040 - 100885797 ABBA01060178;ABBA01060179;AC010678;NG_032694 pseudo 38794 INFERRED 1323145 BPIFB6 BPI fold containing family B, member 6 20 20 20 q11.21 28373331 28385730 + 31083115 31095514 + 31619454 31631853 + 1580863;6480464 15790807;12477932;12185532;11780052;20237496;21787333 128859 F5H8I3;Q8NFQ5 ABBA01019245;AF465767;AL121756;AMYH01011852;AY927631;BC113122;CH471077;NM_174897 AAI40307;AAI46465;AAM73985;EAW76339;EAW76340;NP_777557;Q8NFQ5 Hs.375090 BPIL3;LPLUNC6 BPI fold-containing family B member 6;OTTHUMP00000030617;bactericidal/permeability-increasing protein-like 3 APPROVED protein-coding ENSG00000167104 16504 16561 614110 VALIDATED 1323273 BPIFC BPI fold containing family C 22 22 22 q12.3 16612005 16655541 - 31140290 31183373 - 32809834 32853373 - 1580863;6480464 12185532;17562024;12477932;10591208 254240 A2RRF1;F5H3G0;Q5TI88;Q8NFQ6 ABBA01055375;ABBA01055376;ABBA01055377;ABBA01055378;AF465766;AK301685;AL021937;AMYH01012728;BC062656;BC131582;CH471095;CK823453;CU456409;NM_174932 AAI31583;AAM73984;BAG63157;EAW60022;NP_777592;Q8NFQ6 Hs.372939;Hs.736771 1800086;1805846;1806058;1809680;1811308;1816898;1819708;1821792;1823926;1826672;1827460;1828594;1831034;1831634;1833628;1833736;1833910;1834154;1834340;1834544;1834672;1834970;1835026;1835254;1837140;1837498;1837808;1840650;1840706;1841002;1841142;1842504;1842902;1842970;1843140;1843256;1843806;1844210;1844302;1844854;1845436;1845688;2013754;2013756;2013758;2013760;2013762;2013764;2013766;2013768;2013770;2013772;2013774;2013776;2013778;2013780;2013782;2013784;2013786;2013788;2013790;2013792;2013794;2013796;2013798;2013800;2013802;2013804;2013806;2013808;2013810;2013812;2013814;2013816;2013818;2013820;2013822;2013824;2013826;2013828;2013830;2013832;2013834;2013836;2013838;2013840;2013842;2013844;2013846;2013848;2013850;2013852;2013854;2013856;2013858;2013860;2013862;2013864;2013866;2013868;2013870;2013872;2013874;2013876;2013878;2013880;2013882;2013884;2013886;2013888;2013890;2013892;2013894;2013896;2013898;2013900;2013902;2013904;2013906;2013908;2013910;2013912;2013914;2013916;2013918;2013920;2013922;2013924;2013926;2013928;2013930;2013932;2013934;2013936;2013938;2013940;2013942;2013944;2013946;2013948;2013950;2013952;2013954;2013956;2013958;2013960;2013962;2013964;2013966;2013968;2013970;2013972;2013974;2013976;2013978;2013980;2013982;2013984;2013986;2013988;2013990;2013992;2013994;2013996;2013998;2014000;2014002;2014004;2014006;2014008;2014010;2014012;2014014;2014016;2014018;2014020;2014022;2014024;2014026;2014028;2014030;2014032;2014034;2014036;2014038;2014040;2014042;2014044;2014046;2014048;2014050;2014052;2014054;2014056;2014058;2014060;2014062;2014064;2014066;2014068;2014070;2014072;2014074;2014076;2014078;2014080;2014082;2014084;2014086;2014088;2014090;2014092;2014094;2014096;2014098;2014100;2014102;2014104;2014106;2014108;2014110;2014112;2014114;2014116;2014118;2014120;2014122;2098720;2098722;2098724;2098726;2098728;2098730;2098732;2098734;2098736;2098738;2098740;2098742;2098744;2098746;2098748;2098750;2098752;2098754;2098756;2098758;2098760;2098762;2098764;2098766;2098768;2098770;2098772;2098774;2098776;2098778;2098780;2098782;2098784;2098786;2098788 ECD00898;ECD03874;ECD03982;ECD05832;ECD06652;ECD09495;ECD10921;ECD11982;ECD13057;ECD14450;ECD14846;ECD15424;ECD16653;ECD16954;ECD17959;ECD18013;ECD18101;ECD18225;ECD18318;ECD18420;ECD18484;ECD18636;ECD18664;ECD18782;ECD19736;ECD19916;ECD20074;ECD21515;ECD21544;ECD21694;ECD21765;ECD22459;ECD22659;ECD22693;ECD22778;ECD22836;ECD23114;ECD23318;ECD23365;ECD23643;ECD23935;ECD24062;REN77816;REN77817;REN77818;REN77819;REN77820;REN77821;REN77822;REN77823;REN77824;REN77825;REN77826;REN77827;REN77828;REN77829;REN77830;REN77831;REN77832;REN77833;REN77834;REN77835;REN77836;REN77837;REN77838;REN77839;REN77840;REN77841;REN77842;REN77843;REN77844;REN77845;REN77846;REN77847;REN77848;REN77849;REN77850;REN77851;REN77852;REN77853;REN77854;REN77855;REN77856;REN77857;REN77858;REN77859;REN77860;REN77861;REN77862;REN77863;REN77864;REN77865;REN77866;REN77867;REN77868;REN77869;REN77870;REN77871;REN77872;REN77873;REN77874;REN77875;REN77876;REN77877;REN77878;REN77879;REN77880;REN77881;REN77882;REN77883;REN77884;REN77885;REN77886;REN77887;REN77888;REN77889;REN77890;REN77891;REN77892;REN77893;REN77894;REN77895;REN77896;REN77897;REN77898;REN77899;REN77900;REN77901;REN77902;REN77903;REN77904;REN77905;REN77906;REN77907;REN77908;REN77909;REN77910;REN77911;REN77912;REN77913;REN77914;REN77915;REN77916;REN77917;REN77918;REN77919;REN77920;REN77921;REN77922;REN77923;REN77924;REN77925;REN77926;REN77927;REN77928;REN77929;REN77930;REN77931;REN77932;REN77933;REN77934;REN77935;REN77936;REN77937;REN77938;REN77939;REN77940;REN77941;REN77942;REN77943;REN77944;REN77945;REN77946;REN77947;REN77948;REN77949;REN77950;REN77951;REN77952;REN77953;REN77954;REN77955;REN77956;REN77957;REN77958;REN77959;REN77960;REN77961;REN77962;REN77963;REN77964;REN77965;REN77966;REN77967;REN77968;REN77969;REN77970;REN77971;REN77972;REN77973;REN77974;REN77975;REN77976;REN77977;REN77978;REN77979;REN77980;REN77981;REN77982;REN77983;REN77984;REN77985;REN77986;REN77987;REN77988;REN77989;REN77990;REN77991;REN77992;REN77993;REN77994;REN77995;REN77996;REN77997;REN77998;REN77999;REN78000;stSG602755;stSG602756;stSG602758;stSG602759;stSG602760;stSG602761;stSG602762;stSG602764;stSG602765;stSG602766;stSG602767;stSG602768;stSG602769;stSG602770;stSG602771;stSG602772;stSG602773;stSG602774;stSG602775;stSG602776;stSG602777;stSG602778;stSG602779;stSG602780;stSG602781;stSG602782;stSG602783;stSG602784;stSG602785;stSG602786;stSG602787;stSG602788;stSG602789;stSG602790;stSG602791 BPIL2 BPI fold-containing family C protein;BPI-like 2;OTTHUMP00000064018;bactericidal/permeability-increasing protein-like 2 APPROVED protein-coding ENSG00000184459 16503 16560 614109 VALIDATED 1606082 BRCA1P1 BRCA1 pseudogene 1 17 17 17 q21 37976945 37978829 - 38573613 38575497 - 41320087 41321971 - 11880951;11179671;10205276;8954804;8700509;19067158;21989022 394269 ABBA01006390;AC060780;AMYH01008402;NG_003183;NG_005905;U77841 LBRCA1;PsiBRCA1;pseudo-BRCA1 pseudo 28470 INFERRED 1350405 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008] 1 1 1 q41 193450034 193482399 - 218297447 218329814 - 220230824 220263191 - 6480464 10224133;15489334;14702039;12477932;20628624;21139048;22505724 10380 A6NF51;B4DPS5;B4DUS9;F8VRY7;F8VVW8;F8VZG4;F8W1J0;O95861 ABBA01048082;ABBA01048083;ABBA01048084;ABBA01048085;AC103590;AF125042;AJ249339;AK021941;AK291943;AK298476;AK300777;AK315962;AMYH01001741;BC017801;BG114910;BG428446;CH471100;NM_006085 AAD17329;AAH17801;BAF84632;BAG60687;BAG62441;BAH14333;CAB65115;EAW93306;EAW93307;EAW93308;NP_006076;O95861 Hs.406134 2134682;5016596;5037552 D8S2279;GDB:631802;SHGC-76373 PIP 3'(2'),5'-bisphosphate nucleotidase 1;BPntase;OTTHUMP00000035564;OTTHUMP00000035565;OTTHUMP00000241397;PAP-inositol 1,4-phosphatase;PAP-inositol-1,4-phosphatase;bisphosphate 3'-nucleotidase 1 APPROVED protein-coding ENSG00000162813 1096 06814 604053 VALIDATED 1352713 BRCA3 breast cancer 3 7240710 10944226;11792833 60500 1340557 D13S1308 18617 1348068 BRAP BRCA1 associated protein The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008] 12 12 q24 110566280 110608122 - 112079950 112123790 - 6480464 14724641;9497340;19198608;19152073;19009954;18380995;18332145;15340083;10777491;10508479;8889548;8955125;12477932;18577512;19698717;19713974;20040518;19549727;21372407;23105109;21301165;22078348;18781797;20639865;21857995;22085839;22022282;21139048;21890473;21906983;21670849;21983900;20686565;22122968;22493691;21145461;21963094;23000965;23356535;22053931;22505724 8315 B4DRM1;F8VZK5;J3KNN7;Q59H81;Q7Z569 AB208878;ABBA01019899;ABBA01019900;ABBA01019901;ABBA01019902;AC002996;AC137055;AF035620;AF035950;AK290379;AK299326;AK308279;AMYH01004752;AY332222;BC136698;BC136699;BU674276;CH471054;NM_006768 AAB88538;AAC24200;AAI36699;AAI36700;AAP93638;BAD92115;BAF83068;BAG61333;EAW97972;NP_006759;Q7Z569 Hs.530940 1643966;1686488;1855656 RH66114;RH98922;WI-14855 BRAP2;IMP;RNF52 BRCA1-associated protein;OTTHUMP00000241647;OTTHUMP00000241648;OTTHUMP00000241649;RING finger protein 52;galectin-2-binding protein;impedes mitogenic signal propagation;renal carcinoma antigen NY-REN-63 APPROVED protein-coding ENSG00000089234 1099 604986 REVIEWED 1315998 BPTF bromodomain PHD finger transcription factor This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008] 17 17 q24.3 63252242 63410956 + 65821780 65980494 + 1580863;6480464 14609955;10403843;10575013;10727212;7621746;19190132;17081983;16728978;16728976;16137655;15489334;15379550;15302935;14702039;12634501;12477932;11640947;10662542;9225734;8975731;8950167;8889548;22797724;18029348;18974875;20300178;21596426;17846119;22939629;22586326;19279002;21139048;21693764;21890473;21900206;21653943;19471022;21447625;20953165;21282530;23000965;23143601 2186 E7ETD6;E9PE19;F5GXF5;F5H176;J3KSK9;J3KSY0;J3QLW4;J3QQK4;J3QQQ8;Q12830 AB032251;ABBA01028976;ABBA01028977;ABBA01028978;ABBA01028979;ABBA01028980;ABBA01028981;AC006534;AC107377;AC134407;AK022081;AK022570;AK025776;AK027184;AK293224;AK296256;AK297281;AL833375;AMYH01008586;AMYH01008587;AY282495;BC037422;BC039881;BC050566;BC067234;BE464864;BQ716216;BU169920;BU176205;CF135401;CH471099;CV809604;NM_004459;NM_182641;U05237 AAA97522;AAH50566;AAH67234;AAP22284;BAA89208;BAB15686;BAG56763;BAG58970;BAG59752;EAW89038;EAW89039;NP_004450;NP_872579;Q12830 Hs.444200 1678265;1697996;1701318;1739901;1767662;1797210;1855227;2108079;2153076;2177649 A007J48;D17S1772;FALZ;FALZ_8339;RH102527;RH104289;RH12419;RH36156;RH78180;SHGC-57348 FAC1;FALZ;NURF301 OTTHUMP00000163084;OTTHUMP00000163085;bromodomain and PHD domain transcription factor;bromodomain and PHD finger-containing transcription factor;fetal Alz-50 clone 1 protein;fetal Alz-50 reactive clone 1;nucleosome remodeling factor, large subunit;nucleosome-remodeling factor subunit BPTF APPROVED protein-coding ENSG00000171634 3581 03490 601819 REVIEWED 1318809 BRAT1 BRCA1-associated ATM activator 1 The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012] 7 7 7 p22.3 2546833 2564507 - 2544037 2561672 - 2577444 2595392 - 6480464 16964243;15489334;14702039;12477932;15342556;16452482;22863883;16196087;21139048;21693764;21890473;21906983;22279524;21987572;19471022;23383273;21963094;23000965;22505724;23251661 221927 F8WDN5;Q9UFA3 AACC02000053;ABBA01039380;ABBA01039381;AC092488;AI963076;AK024482;AK131083;AK131097;AK311144;AL133088;AMYH01016976;BC007209;BC015632;BC023561;BC040704;BP363179;CH236953;CH471144;NG_032167;NM_152743 AAH07209;AAH15632;AAH23561;AAH40704;BAB15772;BAC85133;BAC85147;CAB61405;EAL23957;EAW87255;EAW87256;EAW87257;EAW87258;EAW87259;EAW87260;NP_689956;Q6PJG6 Hs.520623 1771476 IB3588 BAAT1;C7orf27;MGC22916;RMFSL BRCA1-associated ATM activator 1;BRCA1-associated protein required for ATM activation protein 1;HEAT repeat-containing protein C7orf27;OTTHUMP00000147633 APPROVED protein-coding ENSG00000106009 21701 12914 614498;614506 REVIEWED 1604470 BRCTD1 BRCT domain containing 1 q15 15632077;12477932;11230166 345499 AL050298;BC054885;BC070332;BC107571 AAH54885;AAH70332;AAI07572;CAB43397;Q3B7K4;Q6NSA5;Q6PHW9;Q9Y402 Hs.657315 BRCTx;DKFZp564C0469 protein-coding 25362 735645 BRAF v-raf murine sarcoma viral oncogene homolog B This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 q34 140080751 140271033 - 140433812 140624564 - 1580093;1580103;1580863;1580106;1626216;2315865;2315868;2298531;2315855;2298686;2293882;5133243;5133242;6480464;5686410;6484113;6907045;7240710 16439621;16424035;16508002;17310240;19289622;19079609;18098337;19955937;18060073;17126425;21277552;20951313;22177953 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673 H7C4S5;H7C560;H7C5K3;Q13878 AA252358;AA834931;AACC02000020;ABBA01034086;ABBA01034087;ABBA01034088;ABBA01034089;ABBA01034090;ABBA01034091;AC006006;AC006344;AC006347;AC079339;AI203435;AK054801;AK314346;AMYH01017991;AMYH01017992;AW971583;BC038966;BC101757;BC112079;BM263585;CH236950;CH471070;DB454480;DN996440;EU600171;HB432546;HC464558;HM437233;M21001;M95712;NG_007873;NM_004333;X65187 AAA35609;AAA96495;AAD15551;AAD43193;AAI01758;AAI12080;AAS00359;ACD11489;ADN43065;CAA46301;CAZ68014;CBK51920;EAL24023;EAW83964;EAW83965;NP_004324;P15056 Hs.550061 1718051;1851691;1853747;2116083;2119056;2120598;2162361;2173466;2178697 D7S1672;D7S2227;GDB:1317924;GDB:1318226;GDB:1318374;RH122643;SHGC-35884;STS-T28237;WI-17864 B-RAF1;BRAF1;FLJ95109;MGC126806;MGC138284;NS7;RAFB1 94 kDa B-raf protein;B-Raf proto-oncogene serine/threonine-protein kinase (p94);OTTHUMP00000212184;murine sarcoma viral (v-raf) oncogene homolog B1;p94;proto-oncogene B-Raf;serine/threonine-protein kinase B-raf;v-raf murine sarcoma viral oncogene homolog B1 APPROVED protein-coding ENSG00000157764 1097 01264 115150;164757;211980;613706;613707 REVIEWED 736254 BRCA2 breast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. 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675 E9PIQ1;H0YD86;H0YE37;P51587 ABBA01010135;ABBA01010136;ABBA01010137;AF309413;AF348515;AF489725;AF489726;AF489727;AF489728;AF489729;AF489730;AF489731;AF489732;AF489733;AF489734;AF489735;AF489736;AF489737;AF489738;AF507079;AF507080;AF507081;AF507082;AF507083;AF507084;AF507085;AF507086;AF507087;AF507088;AF507089;AF507090;AL137247;AL445212;AMYH01005021;AY008850;AY008851;AY151039;AY436640;BC026160;BC047568;CH471075;DQ897648;JX480468;JX480469;JX480470;JX480471;JX480473;JX480474;JX480476;JX480477;JX480478;NG_012772;NM_000059;U43746;X95152;X95161;Z73359;Z74739 AAB07223;AAG32681;AAG32682;AAG46030;AAK29432;AAN28944;AAN61409;AAN61410;AAN61411;AAN61412;AAN61413;AAN61414;AAN61415;AAN61416;AAN61417;AAN61418;AAN61419;AAN61420;AAN61421;AAN61422;AAN61426;AAN61427;AAN61428;AAN61429;AAN61430;AAN61431;AAN61432;AAN61433;AAN61434;AAN61435;AAN61436;AAN61437;AAQ97181;ABI74674;ACX32322;AFU88810;AFU88811;AFU88812;AFU88813;AFU88815;AFU88816;AFU88818;AFU88819;AFU88820;CAA64484;CAA97728;CAA98995;CAI40479;EAX08499;EAX08500;EAX08501;NP_000050;P51587 Hs.34012 1695158;1708016;1792188;1792190;1792192;1792194;1792196;1793590;1794268;1926704;2113446;2121311;2131231;2155936;5491828 BRCA2;D13S1788;G48219;PMC13918P2;PMC13918P3;PMC13918P4;PMC13918P5;PMC13918P6;PMC23830P1;PMC310899P14;REN34178;RH68440;SHGC-81356;STS-X95152;STS-X95157 BRCC2;BROVCA2;FACD;FAD;FAD1;FANCB;FANCD;FANCD1;GLM3;PNCA2 BRCA1/BRCA2-containing complex, subunit 2;OTTHUMP00000018803;breast and ovarian cancer susceptibility gene, early onset;breast cancer 2;breast cancer 2 tumor suppressor;breast cancer susceptibility protein BRCA2;breast cancer type 2 susceptibility protein;fanconi anemia group D1 protein;truncated breast and ovarian cancer susceptibility protein 2 2303074 MAMTS46_H APPROVED protein-coding ENSG00000139618 1101 02554 114480;155255;176807;194070;600185;605724;612555;613029;613347 REVIEWED 69132 BRCA1 breast cancer 1, early onset This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009] 17 17 q21 38449840 38530994 - 41196312 41277500 - 1580863;1599502;734655;734657;734656;1599497;1578504;2293150;2293156;2293014;2293154;2293190;2293149;2293151;2293153;2298941;2298942;2293155;2293152;2289042;6480464;6484113;6907045;7240710 12203372;9167459;10398279;9700175;7907678;16498454;18400253;11889595;18094410;18182994;18483361;18443292;18269736;18204050;12773202;10442317;17505536;18256760;18182994 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672 B4DES0;B7ZA85;C6YB45;C9IZW4;E7EMP0;E7EN90;E7ENB7;E7EP70;E7EQW4;E7ETR2;E7EUM2;E7EWN5;E9PC22;E9PFC7;E9PFZ0;E9PH68;F8W8H7;G3XAC3;H0Y850;H0Y881;H0Y8B8;H0Y8D8;K7EJW3;K7EPC7;P38398;Q1RMC1;Q3B891 ABBA01006390;ABBA01006391;ABBA01006392;ABBA01006393;AC135721;AF005068;AF274503;AF284812;AF507076;AF507078;AK293762;AK307553;AK308084;AK316200;AL701927;AMYH01008402;AY093484;AY093485;AY093486;AY093487;AY093489;AY093490;AY093492;AY093493;AY144588;AY273801;AY304547;AY354539;AY706911;AY706912;AY751490;BC012577;BC030969;BC038947;BC046142;BC062429;BC072418;BC085615;BC106745;BC106746;BC114511;BC114562;BC115037;BU617173;BU679389;CH471152;DQ116737;DQ145822;DQ145823;DQ145825;DQ145826;DQ190450;DQ190451;DQ190452;DQ190453;DQ190454;DQ190455;DQ190456;DQ190457;DQ299305;DQ299306;DQ299307;DQ299308;DQ299309;DQ299310;DQ299311;DQ299312;DQ299313;DQ299314;DQ299315;DQ299316;DQ299317;DQ299318;DQ299319;DQ299321;DQ299322;DQ299323;DQ299324;DQ299325;DQ299326;DQ299327;DQ299328;DQ299329;DQ299330;DQ299331;DQ333386;DQ333387;DQ363751;DQ478408;JN686490;L78833;NG_005905;NM_007294;NM_007297;NM_007298;NM_007299;NM_007300;NR_027676;U14680;U15595;U37574;U61268;U64805;U68041;Y08757;Y08864 AAA73985;AAB08105;AAB40910;AAB61673;AAC00049;AAC37594;AAC50330;AAF97939;AAH30969;AAH62429;AAH72418;AAH85615;AAI06746;AAI06747;AAI15038;AAM18218;AAM18219;AAM18220;AAM18221;AAM18222;AAM18223;AAM18225;AAM18226;AAN10167;AAN61423;AAN61425;AAP12647;AAP70031;AAQ92977;AAU21563;AAU21564;AAU93634;AAZ16492;AAZ79406;AAZ79407;AAZ79409;AAZ79410;ABA29208;ABA29211;ABA29214;ABA29217;ABA29220;ABA29223;ABA29226;ABA29229;ABB87053;ABB87054;ABB87055;ABB87056;ABB87057;ABB87058;ABB87059;ABB87060;ABB87061;ABB87062;ABB87063;ABB87064;ABB87065;ABB87066;ABB87067;ABB87069;ABB87070;ABB87071;ABB87072;ABB87073;ABB87074;ABB87075;ABB87076;ABB87077;ABB87078;ABB87079;ABC59810;ABC59811;ABC88652;ABF14462;AEQ98814;BAG57181;BAH14571;CAA70003;EAW60922;EAW60923;EAW60924;EAW60925;EAW60926;EAW60927;EAW60928;EAW60929;EAW60930;EAW60931;EAW60932;EAW60933;EAW60934;EAW60935;EAW60936;EAW60937;EAW60938;EAW60939;EAW60940;EAW60941;EAW60942;NP_009225;NP_009228;NP_009229;NP_009230;NP_009231;P38398 Hs.194143 1339869;1646829;1686754;1722255;1730946;1733800;1744103;1744105;1744107;1744109;1744111;1744113;1744115;1744117;1744119;1744121;1744123;1744125;1744127;1744129;1744131;1744133;1744135;1744137;1744139;1744415;1744417;1744419;1744421;1744423;1744425;1744427;1744429;1744431;1744433;1744435;1744437;1744439;1744441;1744443;1744445;1744447;1744449;1744451;1745637;1745639;1745697;1759043;1791446;1792180;1792186;1793764;1793766;1794264;1794266;1794270;1794272;1794274;1794276;1794278;2106449;2164296;2190495;5022588;5109450;5127899 BRCA1;BRCA1_4046;D17S1198;D17S1322;D17S1323;D17S855;D17S932;D5S1597E;G10044;G60034;GDB:388557;GDB:388674;GDB:388688;GDB:389033;GDB:389047;GDB:389054;GDB:391358;GDB:391365;GDB:391372;GDB:391818;GDB:391825;GDB:391832;GDB:391839;GDB:391846;GDB:391853;GDB:391860;GDB:391867;GDB:391874;GDB:391881;GDB:454227;GDB:454278;GDB:454349;GDB:454353;GDB:454372;GDB:454381;GDB:454417;GDB:454421;GDB:454425;GDB:454429;GDB:454433;GDB:454437;GDB:454441;GDB:454446;GDB:454450;GDB:454454;GDB:454458;GDB:454462;GDB:454466;GDB:626829;GDB:626905;GDB:631944;PMC110706P1;PMC139147P1;PMC13918P1;PMC280658P1;PMC280658P2;PMC310899P11;PMC310899P12;PMC310899P2;PMC310899P3;PMC310899P5;PMC310899P6;PMC310899P8;RH79896;SHGC-151111;SHGC-152118 BRCAI;BRCC1;BROVCA1;IRIS;PNCA4;PPP1R53;PSCP;RNF53 BRCA1/BRCA2-containing complex, subunit 1;OTTHUMP00000212143;OTTHUMP00000212147;OTTHUMP00000212148;OTTHUMP00000212149;OTTHUMP00000212150;OTTHUMP00000212151;OTTHUMP00000212155;RING finger protein 53;breast and ovarian cancer susceptibility protein 1;breast and ovarian cancer sususceptibility protein;breast and ovarian cancer sususceptibility protein 1;breast cancer 1;breast cancer type 1 susceptibility protein;protein phosphatase 1, regulatory subunit 53 2292917;2292991;2292992;2303079 MAMTS45_H;PRSTS123_H;PRSTS128_H;PRSTS133_H APPROVED protein-coding ENSG00000012048 1100 00218 113705;604370;614320 REVIEWED 1343686 BRD7P1 bromodomain containing 7 pseudogene 1 14 14 14 q11.2 4081020 4083243 - 23288193 23290474 - 24218315 24220538 + 100288948 ABBA01061325;AL160237;AMYH01005605;NG_022855 BRD7P APPROVED pseudo 19923 INFERRED 1626549 BRD7P2 bromodomain containing 7 pseudogene 2 3 3 3 q25.33 158240085 158242306 + 161301332 161303410 + 159818478 159820699 + 647076 ABBA01058799;AC026118;AMYH01013613;NG_009641 1680212;1683371;1735290;1857830;2144750 D3S2934E;RH12903;RH18317;SHGC-2534;SHGC-64341 pseudo 33541 INFERRED 1344323 BRCC3 BRCA1/BRCA2-containing complex, subunit 3 This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011] X X q28 153952904 154004543 + 154299695 154351349 + 6480464 8247530;14636569;17525341;19202061;19214193;19261746;19261749;19261748;18077395;17143545;16381901;16189514;15489336;15489334;14737182;12477932;11076863;19015238;19305427;1303175;17353931;20032457;21335604;21596366;20656690;19615732;21282113;17664283;15342556;22863883;22990118;22689573;20656689;21987572;21139048;21890473;21906983;21963094;22053931;22357538;23000965;23211528;19380743;22505724 79184 B4DQN7;H7C413;H9KVA9 ABBA01029116;ABBA01029117;ABBA01029118;ABBA01029119;ABBA01029120;ABBA01029121;ABBA01029122;ABBA01029123;ABBA01029124;ABBA01029125;ABBA01029126;AK298886;AK299194;AK310286;AK313544;AMYH01023323;AY438030;BC002999;BC006540;BP304352;BU902387;BX293995;BX470111;CH471172;NM_001018055;NM_001242640;NM_024332;S68015;X64643 AAB29005;AAH02999;AAH06540;AAR30498;BAG36320;BAG60999;BAG61237;CAA45917;CAL37707;EAW72632;EAW72633;EAW72634;EAW72635;EAW72636;EAW72637;NP_001018065;NP_001229569;NP_077308;P46736 Hs.558537 1681460;1800254;1800410;1802244;1806514;1809564;1813088;1813970;1816038;1816750;1817078;1817476;1820278;1820344;1822890;1823862;1824406;1824486;1827220;1827396;1828442;1828444;1829942;1831506;1831682;1833870;1836286;1837602;1837910;1838872;1841088;1842792;1843464;1844916;1845144;2103180;2103182;2103184;2103186;2103188;2103190;2103192;2103194;2103196;2103198;2103200;2103202;2103204;2103206;2103208;2103210;2103212;2103214;2103216;2103218;2103220;2103222;2103224;5022209 ECD00985;ECD01065;ECD02005;ECD04214;ECD05774;ECD07563;ECD08012;ECD09059;ECD09419;ECD09588;ECD09788;ECD11213;ECD11247;ECD12533;ECD13023;ECD13301;ECD13341;ECD14725;ECD14814;ECD15347;ECD15348;ECD16104;ECD16890;ECD16978;ECD18081;ECD19304;ECD19968;ECD20126;ECD20615;ECD21738;ECD22603;ECD22941;ECD23674;ECD23789;RH79163;STS-X64643;stSG604436;stSG604437;stSG604438;stSG604439;stSG604441;stSG604442;stSG604443;stSG604444;stSG604446;stSG604447;stSG604448;stSG604449;stSG604450;stSG604451;stSG604452;stSG604453;stSG604454;stSG604455;stSG604456;stSG604457;stSG604458;stSG604461;stSG604462 BRCC36;C6.1A;CXorf53;RP11-143H17.2 BRCA1-A complex subunit BRCC36;BRCA1/BRCA2-containing complex subunit 36;BRISC complex subunit BRCC36;OTTHUMP00000024245;OTTHUMP00000024246;OTTHUMP00000196187;OTTHUMP00000196188;c6.1A;lys-63-specific deubiquitinase BRCC36 APPROVED protein-coding ENSG00000185515 24185 06465 300617 REVIEWED 3207434 BRD7P4 bromodomain containing 7 pseudogene 4 6 6 q21 112497473 112499718 + 111750912 111753157 + 100287229 ABBA01026090;AL512325;AMYH01016592;NG_016163 1857830 SHGC-64341 pseudo 37630 INFERRED 1323531 BRD1 bromodomain containing 1 This gene encodes a protein of unknown function. The protein contains a bromodomain, a sequence motif often found in transcriptional coactivators, and localizes to the nucleus in testis and several other cell types. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34088639 34139967 - 48552941 48604456 - 50166937 50218452 - 1580863;6480464 1350857;10602503;17081983;15461802;12477932;10591208;16407974;16169070;16387653;16484223;18029348;19693800;19763615;19908236;20379614;20211142;21273288;20224553;22820306;21880731;23894747;21139048;21890473;21720545;15231748 23774 B4E3L9;F5H6M9;J3KNX6;J3KQ61;O95696 AB209216;ABBA01031328;ABBA01031329;ABBA01031330;AF005067;AK292428;AK302736;AK302845;AK304330;AK304776;AL049402;AL080149;AMYH01012885;BC030007;BC047508;CH471138;CR456408;CR936643;NM_014577;Z98885 AAF34320;AAH30007;AAH47508;BAD92453;BAF85117;BAG63953;BAG64034;BAG65531;BAH14162;CAB45742;CAG30294;CAH56423;CAI56783;CAK54399;CAK54698;EAW73473;EAW73474;EAW73475;EAW73476;EAW73477;NP_055392;O95696 Hs.127950 1644724;1646674;1711628;1711692;1732185;2107895 BRD1_8015;D22S1057;D22S55;G49315;G49348;WI-14811 BRL;BRPF1;BRPF2;DKFZp686F0325 BR140-like protein;OTTHUMP00000196965;OTTHUMP00000196966;OTTHUMP00000196967;OTTHUMP00000196968;bromodomain and PHD finger-containing protein 2;bromodomain-containing protein 1 APPROVED protein-coding ENSG00000100425 1102 06848 604589 REVIEWED 3322052 BRD7P5 bromodomain containing 7 pseudogene 5 13 13 13 q32.1 76257655 76259476 - 94207702 94231244 - 95409705 95411526 - 100129259 ABBA01027204;AL137061;AMYH01005302;NG_009642 pseudo 37631 INFERRED 2801633 BRD7P6 bromodomain containing 7 pseudogene 6 2 2 2 p13.3 70419904 70433726 + 70422731 70436554 + 70569227 70583050 + 100128042 ABBA01075536;AC022201;AMYH01010425;NG_016161 pseudo 37632 INFERRED 1626540 BRD7P3 bromodomain containing 7 pseudogene 3 6 6 6 q22.31 119565861 119568334 + 118929287 118931702 + 118822536 118825009 + 6480464 12477932;10526152;21076409 23629 ABBA01026028;AF167351;AMYH01016623;BC033937;NG_021248;NR_002730;Z99496 AAD46658 Hs.648050 1735290 D3S2934E BP75;MGC42164 pseudo 24171 VALIDATED 1318974 BRD3 bromodomain containing 3 This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008] 9 9 9 q34 107443656 107481364 - 135887784 135922913 - 136895427 136933141 - 1580863;6480464 18406326;17934517;17081983;16008511;15489334;15302935;15164053;12600283;12477932;12371535;9373153;9110174;8781126;8619474;7584044;21555453;19454010;21832049;22939629;22779921;21555454;19322201;21900206;22035730;22139419 8019 A9J571;A9J575;Q15059 AA766480;ABBA01021990;ABBA01021991;AC000391;AC002105;AC002323;AF052138;AK026880;AK123322;AK299519;AL445931;AL591386;AMYH01021816;AMYH01021817;AW409970;AY513270;BC010699;BC030095;BC032124;BI545861;CH471090;D26362;DW413353;NM_007371;Z81330 AAH32124;AAS82952;BAA05393;BAG61471;EAW88113;EAW88114;EAW88115;NP_031397;Q15059 Hs.522472;Hs.654869 1697700;1738321;1856076;1857212;2131605;2132497;2132499;2151781;2157493;2166686 A006H47;D11S4285;D9S1018E;D9S1348;D9S2059;G20827;RH102366;RH25279;STS-D26362;STS-W74619 FLJ23227;FLJ41328;KIAA0043;ORFX;RING3L OTTHUMP00000022724;OTTHUMP00000022725;RING3-like protein;bromodomain-containing 3;bromodomain-containing protein 3 APPROVED protein-coding ENSG00000169925 1104 03327 601541 REVIEWED 1316385 BRD4 bromodomain containing 4 The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 19 19 p13.1 15209301 15252262 - 15348301 15391262 - 1580863;6480464 22120039;22645123;22334664;17474147;18305892;19211738;19129460;19103749;19038968;18971272;18500820;18039861;17934517;17690245;17686863;17626100;17189190;17081983;17023018;16940503;16921027;16611886;15994877;15795266;15456879;15302935;15231748;15109495;15057824;12543779;12477932;12192049;11733348;10938129;12840145;16109376;16169070;16980611;17643375;18029348;19553317;19596781;19846528;20036832;20201073;19336002;17189189;20676058;23041316;16055720;23086925;22939629;23027873;23317504;23365439;23728299;21555454;21652721;21139048;21693764;21890473;22084242;21252943;19766566;21030982;21900206;22035730;19471022;21964340;22623531;19322201;23144621;16109377;21149631;23115324;18996376;21360054 23476 M0QYW0;M0QZD9;M0R0H4;O60885 ABBA01051106;ABBA01051107;ABBA01051108;AC003111;AC004798;AF386649;AK307664;AMYH01009545;AMYH01009546;AMYH01009547;BC000156;BC008354;BC030158;BC035266;BC038988;BC047888;BC067129;BC091649;CH471106;NM_014299;NM_058243;Y12059 AAC27978;AAH00156;AAH08354;AAH30158;AAH35266;AAH38988;AAH47888;AAH67129;AAH91649;AAL26987;CAA72780;EAW84469;EAW84470;EAW84471;EAW84472;EAW84473;NP_055114;NP_490597;O60885 Hs.187763 1660009;1671587;1671589;1686694;2123482;2123484;5491268 A001Y01;A006J46;G19768;G20884;MARC_6953-6954:992007586:1;RH69303;RH91446 CAP;HUNK1;HUNKI;MCAP bromodomain-containing 4;bromodomain-containing protein 4;chromosome-associated protein APPROVED protein-coding ENSG00000141867 13575 10574 608749 REVIEWED 1316511 BRD9 bromodomain containing 9 5 5 5 p15.33 905000 934089 - 916856 945915 - 863850 892939 - 737633;6480464 12477932 15489334;14702039;12975309;12601173;18559093;20379614;19471022;21555454;21693764 65980 B4DXI2;C9JBY0;F2Z2E8;H0YAW8;H0YBF1;H0YBR9;H0YBX9;Q9H7R9 ABBA01034224;ABBA01034225;ABBA01034226;AC122719;AK023503;AK024392;AK026830;AK125518;AK297573;AK299157;AK301987;AL833925;AMYH01014848;AW151055;AY211916;AY358630;BC007217;BC041590;BX648703;CH471102;DQ248311;NM_001009877;NM_023924;NR_027633 AAH41590;AAO65169;AAQ88993;ABB55266;ABZ92051;BAB14591;BAB14907;BAB15565;BAG59964;BAG61205;BAG63394;CAD38781;EAX08187;EAX08188;EAX08189;EAX08190;EAX08191;EAX08192;EAX08193;NP_001009877;NP_076413;Q9H8M2 Hs.449278 1675999 RH80453 DKFZp434D0711;DKFZp686L0539;FLJ43530;LAVS3040;PRO9856 OTTHUMP00000214520;OTTHUMP00000214523;bromodomain-containing protein 9;rhabdomyosarcoma antigen MU-RMS-40.8;sarcoma antigen NY-SAR-29 protein-coding ENSG00000028310 25818 12532 VALIDATED 1350574 BRD2 bromodomain containing 2 This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010] 6 6 p21.3 33044415 33057059 + 32936437 32949282 + 1358444;1580863;6480464 12830434 17166848;9693039;18406326;17999746;17848202;17148447;17111193;17081983;16940503;16786191;16516380;16512664;16344560;15548137;15489334;15342556;15302935;14731392;14702039;14574404;14563639;12600283;12477932;12366783;12145330;11983150;11502199;10965846;10934046;9373153;8781126;8595877;1663500;1352711;1350857;15949438;20587610;15146197;20709061;19204726;19851445;19953286;20036832;20048151;19454010;20811636;22766109;19766566;22035730;21139048;21555454;23255218;23455922;21608014;19322201;23115324 6046 B0S7P1;B0V072;B0V073;E9PIQ3;E9PKQ9;H0Y6K2;H0Y799;H0YDJ7;J3QR72;Q63HQ9;Q658Y7;Q6P3U2 ABBA01038136;ABBA01038137;AF107699;AI983495;AK056504;AL645941;AL662845;AL805913;AL832722;AL935042;AMYH01016239;BC000477;BC001885;BC007715;BC063840;BP271262;BX005422;BX647233;BX648109;BX664702;BX908719;CH471081;CN398334;CR752645;CR759798;CR759829;CR936909;D42040;DA127395;DA505721;DC379337;H11588;M80613;NM_001113182;NM_001199455;NM_001199456;NM_005104;NR_037625;S78771;X62083;X96670;Z84497;Z96104 AAA68890;AAD24963;AAH63840;BAA07641;CAA43996;CAA65450;CAC69989;CAH56171;CAH56179;CAH56208;EAX03662;EAX03663;EAX03664;EAX03665;EAX03666;NP_001106653;NP_001186384;NP_001186385;NP_005095;P25440 Hs.75243 1789328;1790881;1791013;1856506;2119275;2143625;2160325;2175877;2182065;2189715;2190309;2190311;2190313;2190317;2190319;2190321;2190323;2190325;2190327;2190329;2190331;2190333;2190335;2190337;2190339;2190341;2217074;2220316;5127045 A008D22;BRD2_3857;CGCb250;CGCb278;CGCb369;CGCb535;CGCb688;CGCb741;CGCb781;CGCb787;CGCb908;CGCbi2;CGCbi4-2;CGCbpr;CGCbx13;CGCbx3;CGCbx4;CGCbx9;D6S1894;D6S2656;G67884;M2_2_23;NIB1722;RH18121;RH79050;RING3-CA;RING3CA;SGC31960;STS-T87864 D6S113E;DKFZp686N0336;FLJ31942;FSH;FSRG1;KIAA9001;NAT;RING3;RNF3 O27.1.1;OTTHUMP00000029350;OTTHUMP00000178757;OTTHUMP00000178758;OTTHUMP00000178759;bromodomain-containing 2;bromodomain-containing protein 2;female sterile homeotic-related gene 1;really interesting new gene 3 protein APPROVED protein-coding ENSG00000204256 1103 03326 601540 REVIEWED 1320478 BRD7 bromodomain containing 7 This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 16 16 q12 48910442 48960330 - 50352929 50402845 - 6480464 12489984;11025449;10526152;19111069;18809673;18778484;18772500;17081983;16792505;16786191;16475162;16265664;15489334;15137061;14702039;12918109;12766061;12600283;12477932;16169070;12941796;15383276;19505873;20211142;16344560;18329849;19909775;20215511;20228809;20660729;20561408;20130577;20360068;22008115;22015043;21139048;21890473;19471022;20305087;21873788;22864638;23110154 29117 I3L0Y7;I3L4V5;Q9NPI1 ABBA01000874;ABBA01000875;AC007493;AC007597;AC023826;AF152604;AF213969;AJ271881;AK027308;AK074613;AMYH01007659;AW615116;BC001611;BC050728;BC094706;CD677718;CH471092;DA645362;NG_023418;NM_001173984;NM_013263 AAF19526;AAF75126;AAH01611;AAH50728;AAH94706;BAB55031;BAC11089;CAB72445;EAW82756;EAW82757;EAW82758;EAW82759;NP_001167455;NP_037395;Q9NPI1 Hs.437894 1680212;1683371;1735290;1857830;2144750;2151134 D3S2934E;RH12903;RH18317;RH68546;SHGC-2534;SHGC-64341 BP75;CELTIX1;NAG4 75 kDa bromodomain protein;OTTHUMP00000164222;OTTHUMP00000164223;bromodomain protein;bromodomain-containing 7;bromodomain-containing protein 7;protein CELTIX-1 APPROVED protein-coding ENSG00000166164 14310 REVIEWED 1315939 BRD8 bromodomain containing 8 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Three alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 5 5 q31 137503358 137542257 - 137475459 137514358 - 6480464 9368056;8611617;14966270;18029348;17081983;16964243;16571680;15647280;15489334;15302935;15196461;12963728;12477932;11230166;11161817;10517671;8125298;15949438;15070733;16387653;19787264;20051959;20308539;17573780;19553677;20332121;20946988;23064015;20360068;19471022;21139048;21693764 10902 B5MCW3;C9JV05;D6RID0;F8W820;F8WBH2;F8WCS7;F8WDX5;H0Y8F9;H0YA84;H0YAH7;H7C026;H7C127;H7C128;H7C179;H7C2P4;Q9H0E9 AB209079;ABBA01068692;AC109442;AC113382;AF016270;AK225928;AK289951;AK293621;AK297608;AK297756;AK310380;AK312333;AL136823;AL704983;AMYH01015641;BC008039;BC008076;BU187982;CH471062;NM_001164326;NM_006696;NM_139199;X87613;X94234 AAB87858;AAH08039;AAH08076;BAD92316;BAF82640;BAG35254;BAG57080;BAG59991;BAG60105;CAA60949;CAA63925;CAB66757;EAW62159;EAW62160;EAW62161;EAW62162;NP_001157798;NP_006687;NP_631938;Q9H0E9 Hs.519337 1655110;1655112;1681107;1754007;2107897;2115125;5022651 A006J23;BRD8_7982;D11S2921;D5S2603;G20870;RH99254;SHGC-132052 SMAP;SMAP2;p120 OTTHUMP00000159491;OTTHUMP00000197553;OTTHUMP00000197554;OTTHUMP00000197555;OTTHUMP00000197556;OTTHUMP00000197557;bromodomain-containing protein 8;skeletal muscle abundant protein 2;thyroid hormone receptor coactivating protein of 120 kDa;trCP120 APPROVED protein-coding ENSG00000112983 19874 04166 602848 REVIEWED 6769959 BRE-AS1 BRE antisense RNA 1 2 p23 28112323 28113981 - 16344560;12477932;17113583 100302650 ABBA01045223;AC021171;AMYH01010200;AW080339;BC014088;DA582634;DR978411;DR980668;NR_028308 Hs.729719 APPROVED miscrna 44171 VALIDATED 2292094 BREA2 breast cancer estrogen-induced apoptosis 2 8 8 8 q24.3 141090217 141091515 + 144851480 144852166 + 144779285 144780583 + 12477932 286076 Q8NDL7 ABBA01005243;AC105219;AL833948;AMYH01019111;AY940073;BC132838;BC132840;CH471162;NR_015445 CAD38802;EAW82209 Hs.178095 miscrna 18592 VALIDATED 1626266 BRI3P1 brain protein I3 pseudogene 1 1 1 1 p21.2 98935604 98936350 + 100451437 100452115 + 100678760 100679506 + 730010 ABBA01045444;AL445928;AMYH01000825;NG_009718;NG_011852 1703246 SGC31939 pseudo 33533 INFERRED 1626269 BRI3P2 brain protein I3 pseudogene 2 12 12 12 p12.1 30266976 30267353 - 25011328 25011705 - 25120061 25120438 - 441630 ABBA01068014;AC026310;AMYH01004338;NG_009662 pseudo 32543 INFERRED 1315431 BRDT bromodomain, testis-specific BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p22.1 90661426 90726420 + 92187720 92252573 + 92414928 92479985 + 6480464 18654987;9367677;10365964;15647849;15489334;12861021;12477932;11076863;10704737;18029348;20378615;20379614;20538714;16344560;22035730;22505724 676 C9J0Z0;C9J1F7;C9JD82;C9JDL5;C9JJU3;C9JLZ2;C9JMP1;C9JQ27;F8VZ63;F8W0H2;Q6P5T1 ABBA01045554;ABBA01045555;ABBA01045556;AC114486;AF019085;AK302758;AK303008;AK316442;AMYH01000794;AY338951;BC005281;BC017582;BC028126;BC038844;BC047900;BC062700;BG717291;BX648135;CH471097;DB072781;DC401352;DC402057;NM_001242805;NM_001242806;NM_001242807;NM_001242808;NM_001242810;NM_001726;NM_207189 AAB87862;AAH05281;AAH17582;AAH47900;AAH62700;AAI11928;AAI18499;AAQ16198;BAH13797;BAH13876;BAH14813;EAW73106;EAW73107;EAW73108;EAW73109;EAW73110;EAW73111;NP_001229734;NP_001229735;NP_001229736;NP_001229737;NP_001229739;NP_001717;NP_997072;Q58F21 Hs.482520 1693244 AL033575 BRD6;CT9 OTTHUMP00000011809;OTTHUMP00000011810;OTTHUMP00000197577;RING3-like protein;bromodomain testis-specific protein;cancer/testis antigen 9 APPROVED protein-coding ENSG00000137948 1105 03684 602144 REVIEWED 5686950 BRI3P3 brain protein I3 pseudogene 3 17 p11.2 17884503 17884884 - 100101554 ABBA01009742;AC087163;AMYH01008162;NG_032028 pseudo 32544 INFERRED 1318806 BRF2 BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008] 8 8 8 p11.23 36652978 36659011 - 37820558 37826569 - 37701398 37707431 - 1580863;6480464 17353931;16227591;14702039;12621023;12477932;11564744;11483580;11121026;11040218;10330166;16344560;18700021;20668658;21906983 55290 E5RGF6;E5RGX1;Q9HAW0 AA496239;ABBA01023567;AC130304;AC138356;AF130058;AF206673;AF298153;AK001914;AK294337;AK315420;AMYH01018651;BC010648;CH471080;DA688249;NM_018310 AAG30222;AAG35486;AAG35669;AAH10648;ABZ92043;BAA91975;BAG37809;BAG57607;EAW63351;EAW63352;EAW63353;NP_060780;Q9HAW0 Hs.709301 1667471;2127573;2217078 BRF2_3601;SGC33756;SHGC-57648 BRFU;FLJ11052;TFIIIB50 B-related factor 2;BRF-2;OTTHUMP00000225611;OTTHUMP00000225612;RNA polymerase III transcription initiation factor BRFU;hBRFU;hTFIIIB50;transcription factor IIB- related factor, TFIIIB50;transcription factor IIIB 50 kDa subunit APPROVED protein-coding 17298 06115 607013 REVIEWED 1343026 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 2 2 p23.2 27966986 28415272 + 28113482 28561768 + 1580863;6480464 7826398;19015238;11676476;19261749;14636569;15465831;19261748;9737713;17525341;19261746;19214193;18756325;17704801;16713569;16189514;15582573;15489334;14702039;12477932;11259452;17353931;19615732;19757177;20035718;20379614;18029348;20861917;21282113;22863883;22990118;16196087;21577200;20656689;21937695;22689573;21987572;22555662;12938929;20972266;21139048;21890473;21906983;21963094;23128233;23211528;19380743;22505724;22797925 9577 C9J2G0;F8W733;Q96P06 ABBA01045223;ABBA01045224;ABBA01045225;ABBA01045226;ABBA01045227;ABBA01045228;AC021171;AC093690;AC096552;AC104695;AF015767;AF420602;AF420603;AF420604;AF420605;AK000097;AK098345;AK123076;AK291086;AL566299;AMYH01010200;AMYH01010201;AMYH01010202;AMYH01010203;AY438031;BC001251;BG422104;BG422293;BI559404;BU172408;CH471053;CR994399;L38616;NM_001261840;NM_004899;NM_199191;NM_199192;NM_199193;NM_199194 AAA64231;AAB69387;AAH01251;AAL17814;AAL17816;AAL17817;AAL17818;AAR30499;AAX88935;AAY24156;ABM82190;ABM85377;BAA90943;BAC85532;BAF83775;EAX00542;EAX00543;EAX00544;EAX00545;EAX00546;EAX00547;EAX00548;NP_001248769;NP_004890;NP_954661;NP_954662;NP_954663;NP_954664;Q9NXR7 Hs.258314 1336633;1656230;1660900;1661498;1724079;1734864;1749975;2137288;2156198;2186804;2218316 BRE_4464;D2S1615E;D2S1980;D2S223;D2S2556;D2S2920;RH118779;RH48736;RH66226;RH70472;SHGC-111684 BRCC4;BRCC45 BRCA1-A complex subunit BRE;BRCA1/BRCA2-containing complex subunit 45;BRCA1/BRCA2-containing complex, subunit 4;OTTHUMP00000123504;OTTHUMP00000123505;OTTHUMP00000123506;OTTHUMP00000123507;OTTHUMP00000123508;brain and reproductive organ-expressed protein protein-coding ENSG00000158019 1106 08498 610497 VALIDATED 1322467 BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011] 14 14 q 104746668 104838374 - 105675623 105781914 - 1580863;6480464 8943358;7624363;18700021;18326031;17968325;17877750;17499043;17369404;17081983;16982688;16713569;15538381;15489334;14702039;12711686;12477932;12198173;12066800;12016223;11997511;10921893;10523658;10373544;10330166;9171375;9169441;8943363;21832049;20154270;20211142;21044367;11809839;21106530;21693764;21890473;17043677;21832157;23314748;22139419 2972 A3KN61;B3KWA2;F8VQ19;F8VS45;F8VWT8;F8VWY1;F8VXJ4;F8W123;H0YIV6;Q3SYD7;Q5PR24 ABBA01008866;ABBA01008867;ABBA01008868;ABBA01008869;ABBA01008870;ABBA01008871;ABBA01008872;AJ297406;AJ297407;AJ297408;AK096471;AK124665;AK125024;AK294899;AK295579;AL512355;AL540823;AMYH01006077;AMYH01006078;AMYH01006079;BC016743;BC071637;BC086856;BC103859;BC103860;BC103861;BC133655;BX440529;CH471061;N91109;NG_029489;NM_001242786;NM_001242787;NM_001242788;NM_001242789;NM_001242790;NM_001519;NM_145685;U28838;U75276 AAB38876;AAC50170;AAH16743;AAH71637;AAH86856;AAI03860;AAI03861;AAI03862;AAI33656;BAC86024;BAG53298;BAG54064;BAG58477;BAH11919;CAC04512;CAC04513;CAC04514;EAW81906;EAW81907;EAW81908;EAW81909;EAW81910;EAW81911;EAW81912;NP_001229715;NP_001229716;NP_001229717;NP_001229718;NP_001229719;NP_001510;NP_663718;Q92994 Hs.424484 1712274;2117436;2120107;2159976;2165486;2173980;2217076 BRF1_3377;G35352;G35414;G35829;G54046;RH79138;SGC31908 BRF;BRF-1;FLJ42674;FLJ43034;GTF3B;MGC105048;TAF3B2;TAF3C;TAFIII90;TF3B90;TFIIIB90;hBRF B - related factor 1;B-related factor 1;BRF-1;BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB;OTTHUMP00000028454;OTTHUMP00000163910;OTTHUMP00000243596;OTTHUMP00000243598;OTTHUMP00000243600;OTTHUMP00000243601;OTTHUMP00000243607;TATA box binding protein (TBP)-associated factor 3C;TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2;TATA box binding protein (TBP)-associated factor, RNA polymerase III, subunit 2;TATA box-binding protein-associated factor, RNA polymerase III, subunit 2;TBP - associated factor, RNA polymerase III, 90kD;general transcription factor IIIB, 90kD subunit;hTFIIIB90;transcription factor IIIB 90 kDa subunit APPROVED protein-coding ENSG00000185024 11551 05361 604902 REVIEWED 1602822 BRICD5 BRICHOS domain containing 5 16 16 16 p13.3 2473671 2475428 - 2199255 2201012 - 2259254 2261069 - 12477932;17207965 283870 H3BV65;Q6PL45 ABBA01030269;AC009065;AMYH01007055;AY597811;BC039154;CH471112;DN992777;NM_182563 AAH39154;AAT09004;ADQ31629;EAW85535;EAW85536;NP_872369;Q6PL45 Hs.647399 1664128;1722265;1736574;2146291 D16S2568E;G60043;STS-W72364;WIAF-1628 C16orf79;MGC21830 BRICHOS domain-containing protein 5;BRICHOS domain-containing protein C16orf79;OTTHUMP00000159050;chromosome 16 open reading frame 79 APPROVED protein-coding 28309 14482 VALIDATED 1319388 BRI3 brain protein I3 7 7 7 q21.3 92604881 92616177 + 97748923 97758775 + 97910979 97922275 + 1580863;6480464 19366692;18452648;17390049;16508092;16341674;15489334;14592447;12477932;11860200;9847074;8076819;20538055;15606899 25798 F5GXW6;I3L1V6;O95415 AACC02000085;AB055977;ABBA01045731;AC091654;AC093169;AF041430;AF106966;AMYH01017714;BC018737;BC062370;BF108440;BF432881;BQ018487;BQ083249;CB054862;CB528682;CH236956;CH471091;NM_001159491;NM_015379 AAD05167;AAF18565;AAH18737;AAH62370;ADR82701;BAB32785;EAW76713;EAW76714;EAW76715;NP_001152963;NP_056194;O95415 Hs.567438 1689771;1703246 RH79669;SGC31939 I3 OTTHUMP00000205442;brain protein I3;pRGR2 protein-coding ENSG00000164713 1109 16562 VALIDATED 6480930 BRK1P2 BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2 13 91675997 91676205 - 100874492 ABBA01027239;AL512659;AMYH01005286;NG_032391 pseudo 42021 INFERRED 1348808 BRI3BP BRI3 binding protein 12 12 12 q24.31 125079837 125113892 + 124044147 124076302 + 125478194 125510349 + 1580863;6480464 17765869;15489334;14702039;12477932;11860200;21182205;21139048;21890473 140707 Q8IX35;Q8WY22 ABBA01060353;AC093719;AC122688;AF283671;AF284094;AF441865;AK055703;AMYH01004853;AMYH01004854;BC034525;CA488612;CH471054;NM_080626 AAH34525;AAL33003;AAL54382;AAN76689;EAW98470;EAW98471;NP_542193;Q8WY22 Hs.596464 1661598;1667020;1789104;2218318;5015861;5037552;7185938 BRI3BP_4465;D10S16;D8S2279;G65686;RH66758;STS-AA017225 BNAS1;HCCR-1;HCCR-2;HCCRBP-1;KG19 BRI3-binding protein;HCCR-1;I3-binding protein;OTTHUMP00000239024;cervical cancer 1 proto-oncogene-binding protein KG19;cervical cancer oncogene binding protein protein-coding 14251 09829 VALIDATED 1352710 BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] 9 9 q32-q33 120968729 121171560 - 121928908 122131739 - 1580863;6480464 9545632;12442002;14712213;11420708;19506219;18264085;17660530;16369496;15746151;15643521;15489334;15164053;12477932;10469456;10444335;9175739;7757816;19218236;19834503;20070850;20074560;20379614;20429629;21056897;18235502;22465953;18029348;15193422;14676191;21030595;21532573;18235501;21988832;23382074;22446626;23398316;23349863 1620 O60477 ABBA01016259;ABBA01016260;ABBA01016261;ABBA01016262;ABBA01016263;AC006239;AF027734;AK293501;AK293649;AL138894;AL353773;AMYH01021685;BC021560;BC065196;BC071702;CH471090;NM_014618;Z41452 AAC39691;AAH21560;AAH65196;AAH71702;BAG56986;BAG57101;EAW87455;EAW87456;NP_055433;O60477 Hs.532316 BRINP1;DBC1;DBCCR1;FAM5A OTTHUMP00000022751;OTTHUMP00000022752;bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A));deleted in bladder cancer 1;deleted in bladder cancer chromosome region candidate 1;deleted in bladder cancer protein 1 APPROVED protein-coding ENSG00000078725 2687 04181 602865 VALIDATED 1605645 BRINP2 bone morphogenetic protein/retinoic acid inducible neural-specific 2 1 1 1 q24 150250704 150361628 + 175407256 175518181 + 177140633 177251558 + 6480464 16710414;15489334;14702039;12477932;11214970;9110174;8619474;15193423;20972266 57795 Q9C0B6 AB051534;AB161694;ABBA01027857;AF131833;AK098386;AK123336;AK296524;AL021398;AL022143;AL035289;AMYH01001519;BC028036;CH471067;NM_021165 AAD20055;AAH28036;BAB21838;BAC85583;BAD34946;BAG59155;CAA22893;EAW91009;NP_066988;Q9C0B6 Hs.495918 1692982;1735088;2111998;2155555;2171063 AL034208;D1S1826E;D1S3663;SHGC-75941;WI-15575 BRINP2;DBCCR1L2;FAM5B;FLJ41342;KIAA1747;RP5-1026E2.1 BMP/retinoic acid-inducible neural-specific protein 2;DBCCR1-like protein 2;DBCCR1-like2;OTTHUMP00000032889;family with sequence similarity 5, member B;protein FAM5B APPROVED protein-coding ENSG00000198797 13746 13891 PROVISIONAL 1314372 BRMS1L breast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008] 14 14 14 q13.2 16159459 16205033 + 35365348 35410920 + 36295597 36341169 + 6480464 15451426;14702039;12477932;16387653;17207965;19471022;21890473 84312 B2RD65;F8VRR2;H0YHD0;Q5PSV4 AA836514;ABBA01061510;ABBA01061511;ABBA01061512;AK096496;AK297106;AK309431;AK310359;AK315424;AL162311;AMYH01005669;AY827074;BC006250;BU507838;CH471078;NM_032352 AAH06250;AAV83797;ADQ32328;BAG37812;BAG53305;BAG59617;EAW65867;NP_115728;Q5PSV4 Hs.525299 1770477;1783040;2163270;2176461 A007C23;G36155;HSCZPC082;SHGC-144194 BRMS1;MGC11296 BRMS1-homolog protein p40;BRMS1-like protein p40;OTTHUMP00000244013;OTTHUMP00000244020;breast cancer metastasis-suppressor 1-like protein APPROVED protein-coding ENSG00000100916 20512 16564 REVIEWED 1352437 BRK1 BRICK1, SCAR/WAVE actin-nucleating complex subunit 3 3 3 p25.3 10093000 10104540 + 10132333 10143874 + 10157333 10168874 + 6480464;6484113 17311301;15489334;15048733;14695531;12477932;12181570;9463375;8605018;22318606;19576655;19764026;20861187;22863883;21900206;21890473;21906983;22505724 55845 F5H577;Q8WUW1 ABBA01020389;ABBA01020390;ABBA01020391;AC034193;AF161418;AF220047;AK290580;AK312155;AMYH01012969;AY148219;AY148220;BC001067;BC007929;BC019303;BC061515;CH471055;NM_018462 AAF28978;AAF67640;AAH01067;AAH07929;AAH19303;AAN60161;AAN60162;ABM83882;ABM87202;ABW03861;BAF83269;BAG35089;EAW64060;EAW64061;NP_060932;Q8WUW1 Hs.649307 1672014;1685103;1772639 RH41855;RH78271;WI-14152 C3orf10;HSPC300;MDS027;hHBrk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog;Brk1-like;OTTHUMP00000230721;haematopoietic stem/progenitor cell protein 300;probable protein BRICK1;protein BRICK1 APPROVED protein-coding ENSG00000254999 23057 12818 611183 VALIDATED 1605358 BRIX1 BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 5 5 5 p13.2 34798052 34808019 + 34951577 34961544 + 34915820 34925787 + 6480464 17353931;15489334;14702039;12477932;11843177;11790298;16169070;21145461;22586326;21110914;19454010;22939629;18029348;12777385;21900206;21139048;21907836;21628590;22797925 55299 Q8TDN6;Q9NUW4 ABBA01039263;AC026801;AF347667;AK001962;AK289610;AK303311;AK307492;AMYH01015022;AY364243;AY364244;BC001546;BC006014;BC036741;BX648902;CH471119;NM_018321 AAH01546;AAH06014;AAH36741;AAL83818;AAQ76802;AAQ76803;ABM83034;ABM86228;BAA92003;BAF82299;BAG64380;EAW55909;EAW55910;NP_060791;Q8TDN6 Hs.718510 1681452;1789989;2190551;2218738;5017817;5024761;5037552 BRIX__4467;BXDC2;D8S2279;EST25A6;RH36905;RH94085;csnprad1-pcr1-1 BRIX;BXDC2;FLJ11100 OTTHUMP00000221047;brix domain containing 2;brix domain-containing protein 2;ribosome biogenesis protein BRX1 homolog APPROVED protein-coding 24170 16563 VALIDATED 1316979 BRIP1 BRCA1 interacting protein C-terminal helicase 1 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008] 17 17 q22.2 57114767 57295537 - 59756547 59940920 - 1580863;1600525;6480464;7240710 11301010 15878853;14576433;14504288;19584272;19536649;19484476;19150983;19127258;19124506;19116388;19064572;19064565;19012493;19011769;18978354;18950845;18676680;18628483;18557994;18483852;18426915;18414782;18345034;18270339;17664283;17596542;17581638;17557904;17504528;17342202;17033622;16485136;16430786;16153896;16116424;16116423;16116421;15489334;15302935;15133502;15125843;15113441;14983014;14702039;12872252;12565990;12477932;11920628;11595410;15242590;15208681;14578343;11877378;18717574;22582397;22792074;19714462;19913121;20332657;20567916;20587610;20628086;20639400;17148452;17525341;17525342;19170196;19419957;19504183;19625176;19690177;19692168;19748364;19763819;19935797;20150366;20173781;20676667;17525340;20978114;20159562;21240188;21127055;21165771;22412018;23644138;21409391;21964575;22137763;22678362;22692731;21139048;21890473;21906983;20451671;20681793;20301425;20301575;18029348;23473757;21963094;22526901;18285836;19452558;22032289;20159462;22797925;23157317;23225146;23530059 83990 J3KS24;J3QKX0;J3QQP5;J3QSE8;Q9BX63 ABBA01035376;ABBA01035377;ABBA01035378;ABBA01035379;ABBA01035380;AC002994;AC005969;AC060798;AF360549;AK074713;AMYH01008534;AMYH01008535;AMYH01008536;BC101472;BC101474;CH471179;NG_007409;NM_032043 AAI01473;AAI01475;AAK38111;ADR83292;BAC11156;EAW51430;EAW51431;EAW51432;EAW51433;NP_114432;Q9BX63 Hs.128903 1690113;1710154;1783630;2218320;5014051;5015619;5015861;5015961;5016596;5021872;5022651;5037552;7185938 BRIP1_4466;D10S16;D11S2921;D11S3114;D15S1477;D8S2278;D8S2279;GDB:631802;RH92304;SHGC-172093;SHGC-82334;sY3084 BACH1;FANCJ;FLJ90232;MGC126521;MGC126523;OF ATP-dependent RNA helicase BRIP1;BRCA1-associated C-terminal helicase 1;BRCA1-binding helicase-like protein BACH1;BRCA1-interacting protein 1;BRCA1-interacting protein C-terminal helicase 1;BRCA1/BRCA2-associated helicase 1;Fanconi anemia group J protein APPROVED protein-coding 20473 05797 114480;605882;609054 REVIEWED 733512 BRS3 bombesin-like receptor 3 The protein encoded by this gene is a G protein-coupled membrane receptor that binds bombesin-like peptides. This binding results in activation of a phosphatidylinositol-calcium second messenger system, with physiological effects including regulation of metabolic rate, glucose metabolism, and hypertension. [provided by RefSeq, Sep 2011] X X q26.3 135397791 135402264 + 135570125 135574598 + 734661;1580863;6480464 9367152 8383682;17714959;17355223;16979789;15772651;12102638;9593699;8822519;8131855;19913121;20628086;22127929;21878513 680 P32247;Q9UQK4 ABBA01055912;AF117712;AMYH01023049;AY585193;CH471150;L08893;NM_001727;X76498;Z97632 AAA35604;AAD21615;AAI52939;AAT79496;CAA54031;EAW88470;NP_001718;P32247 Hs.121484 1657518;1683056;2219040 BRS3_3941;RH79932;STS-L08893 BRS-3;G-protein coupled receptor;OTTHUMP00000024342;bombesin receptor subtype 3;bombesin receptor subtype-3 APPROVED protein-coding 1113 02116 300107 REVIEWED 1322310 BRMS1 breast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 q13-q13.2 65861380 65869158 - 66104804 66112582 - 1580863;2289400;6480464 15592684 16919237;19405953;19307053;19165610;19111386;19052374;18841483;18664570;18566899;18543067;18502034;18470911;18276787;18211900;17896182;17854218;17227585;15867352;15705865;15489334;15451426;15168732;14581478;12650606;12477932;12414911;11822878;11774238;10850410;8889548;16169070;18533556;19621595;20083343;19609101;16449650;17000776;21056991;17085653;16712791;20935672;20830743;21832049;22927944;21737612;21355308;21827753;22085717;21906983;22931099;23167184;23500495;21726917;21926972;22200669;22239051;21258344;23269275;23390556;23752268 25855 E9PJF5;E9PPD1;G5E9I4;H0YCF7;Q9HCU9 ABBA01024083;AF147350;AF159141;AF281036;AI797564;AK310991;AK313773;AL050008;AMYH01003733;AP001107;BC009834;BM312965;BU734281;CB130346;CB529276;CH471076;CR457173;NM_001024957;NM_015399 AAG00075;AAH09834;AAK69131;BAG36511;CAB43235;CAG33454;EAW74513;EAW74514;EAW74515;EAW74516;NP_001020128;NP_056214;Q9HCU9 Hs.100426 1671534;1767608 STS-W44699;WI-20154 DKFZp564A063 OTTHUMP00000235056;OTTHUMP00000235057;OTTHUMP00000235060;OTTHUMP00000235062;breast cancer metastasis-suppressor 1 APPROVED protein-coding ENSG00000174744 17262 05879 606259 REVIEWED 6481300 BRWD1-AS1 BRWD1 antisense RNA 1 21 40687633 40695144 + 16344560 100874093 ABBA01009343;ABBA01009344;AF064861;AMYH01012248;DB057251;NR_046655 Hs.588102 2203094 stSG622696 APPROVED miscrna ENSG00000238141 40614 PREDICTED 1606705 BROX BRO1 domain and CAAX motif containing 1 1 1 q41 196105074 196125277 + 220952529 220972732 + 222885906 222906109 + 6480464 18190528;17411337;14702039;12477932;11181995;19403673;22162750;21139048;21890473 148362 B7Z9G5;F5GXQ0;Q5VW32;Q5VW33 AB276123;ABBA01048046;AI243754;AI911339;AK056983;AK293974;AK304445;AK315930;AL392172;AMYH01001748;BC113635;BC113637;BC143811;CH471100;NM_144695 AAI13636;AAI13638;AAI43812;BAB71331;BAF56045;BAH11637;BAH14189;BAH14301;EAW93265;NP_653296;Q5VW32 Hs.552608 1655041;1680507;1692738;1697254 AL034126;RH102121;RH98227;SHGC-76398 C1orf58;FLJ32421;MGC142195;MGC142197;RP11-452F19.1 BRO1 domain containing protein;BRO1 domain- and CAAX motif-containing protein;BRO1 domain-containing protein BROX;Bro1-domain-containing protein;OTTHUMP00000035772 APPROVED protein-coding 26512 08725 VALIDATED 1316705 BRPF1 bromodomain and PHD finger containing, 1 The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p26-p25 9708138 9724401 + 9748434 9764699 + 9773434 9789699 + 1580863;6480464 16387653;18794358;17081983;15302935;12477932;8946209;7906940;20400950;18469222;18029348;19001415;20211142;19913121;20628086;21139048;21720545;18051367 7862 C9JDK5;C9JHC0;P55201 ABBA01020400;AC022382;AF176815;AI356310;AK293865;AL713696;AMYH01012964;BC036374;BC053851;BC068262;BG704575;CH471055;M91585;NM_001003694;NM_004634 AAB02119;AAF19605;AAH53851;BAG57257;CAD28495;EAW63972;EAW63973;EAW63974;EAW63975;EAW63976;NP_001003694;NP_004625;P55201 Hs.1004 2110283;2114556;2128183;2134251 BRPF1__4469;RH47297;SHGC-76698;STS-M91585 BR140 OTTHUMP00000122529;OTTHUMP00000207277;OTTHUMP00000207278;OTTHUMP00000207279;bromodomain and PHD finger-containing protein 1;bromodomain-containing protein, 140kD;peregrin APPROVED protein-coding ENSG00000156983 14255 03875 602410 REVIEWED 1315730 BRPF3 bromodomain and PHD finger containing, 3 6 6 6 p21 37719088 37755105 + 36272528 36308545 + 36164550 36200567 + 1580863;6480464 17474147;14574404;12477932;10574462;14630798;16387653;18794358;6457647;19322201 27154 A8WI61;A8WI62;B7ZLN5;E9PI60;E9PJ12;E9PSF3;F6XDC4;H0Y7B4;H0Y7I6;Q17RB6;Q9ULD4 AB033112;ABBA01038253;ABBA01038254;AK000751;AK025134;AK025224;AK074362;AK123574;AK172787;AMYH01016271;BC033652;BC039615;BC117387;BC143917;BC143918;BC143919;CH471081;NM_015695;Z84485 AAH33652;AAI17388;AAI43918;AAI43919;BAA86600;BAA91359;BAB85060;EAX03877;EAX03878;EAX03879;EAX03880;EAX03881;EAX03882;NP_056510;Q9ULD4 Hs.520096 2121786;2150407;2173206;2218322;5024545 BRPF3_4470;D1S3695;RH46861;SHGC-16533;STS-N66794 OTTHUMP00000016287;OTTHUMP00000197589;OTTHUMP00000232921;OTTHUMP00000232922;OTTHUMP00000232924;bromodomain and PHD finger-containing protein 3 protein-coding ENSG00000096070 14256 16565 VALIDATED 1345843 BRWD1-IT2 BRWD1 intronic transcript 2 (non-protein coding) 21 21 21 q22.2 25883492 25884519 - 39607757 39608758 - 40685861 40686888 - 6480464 12036297;12477932;20494980 257357 P59051 ABBA01009344;AF064861;AF426265;AMYH01012248;AW000939;BC130301;BC130303;BM553164;CH471079;NG_029919;NR_033800 AAI30302;AAI30304;AAM53521;EAX09662;EAX09663;P59051 Hs.729612 1701576;1825080;1827686;1827824;1832586;1898586;1898588;1898590;1898592;1898594;1898596;1898598;1898600;1898602;1898604;1898606;2203092 ECD13641;ECD14964;ECD15035;ECD17433;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;REN20095;REN20096;REN20097;REN20098;REN20099;RH104422;stSG622695 C21orf87;NCRNA00257 APPROVED miscrna ENSG00000255568 16423 VALIDATED 1353238 BRSK1 BR serine/threonine kinase 1 19 19 19 q13.4 52836546 52864920 + 60487346 60515742 + 55795534 55823930 + 1580863;6480464 15150265;14976552;18854318;18339622;16630837;15489334;12477932;11347906;22131368;16306228;18029348;18254724;19448619;19448621;19648910 84446 J3KNK0;K7EM68;K7EN26;Q8TDC3 AB058714;ABBA01068109;ABBA01068110;ABBA01068111;AC008974;AC020922;AF479826;AF479827;AK124999;AL831945;AL834275;AMYH01009990;AMYH01009991;AY458602;AY505124;BC016681;CH471135;HQ830199;NM_032430 AAH16681;AAL87697;AAL87698;AAS10354;AAS86442;ADX95745;BAB47440;BAG54120;CAD38595;CAD38950;EAW72359;EAW72360;EAW72361;NP_115806;Q8TDC3 Hs.182081 2106923 20922ef FLJ43009;KIAA1811;hSAD1 BR serine/threonine-protein kinase 1;SAD1 homolog;SAD1 kinase;SadB kinase short isoform;brain-selective kinase 1;brain-specific serine/threonine-protein kinase 1;protein kinase SAD1A;serine/threonine-protein kinase BRSK1;serine/threonine-protein kinase SAD-B;synapses of Amphids Defective homolog 1 protein-coding ENSG00000160469 18994 12533 609235 VALIDATED 1345228 BRSK2 BR serine/threonine kinase 2 11 11 p15.5 1367705 1439908 + 1411129 1483919 + 6480464 14976552;18854318;18794342;18339622;16870137;16630837;16165222;15489334;15150265;14702039;12477932;11124703;9929968;9852686;18254724;20562859;20646422;16306228;16344560;22609399;22713462;22798068;23029325 9024 B4DM60;E9PLM7;E9PPI2;E9PRY3;H0YCS6;H0YES6;Q8IWQ3 ABBA01012142;ABBA01012143;ABBA01012144;AC091196;AC136297;AF020089;AF533876;AF533877;AF533878;AF533879;AF533880;AJ006701;AK074411;AK122851;AK123356;AK131534;AK297211;AK297306;AMYH01003306;AMYH01003307;AMYH01003308;AY166857;AY505125;BC017182;BC024291;BG395884;CH471158;DA059153;DR001379;NM_001256627;NM_001256629;NM_001256630;NM_003957;NR_046331;NR_046332 AAD09654;AAH24291;AAI52770;AAN87839;AAP97723;AAP97724;AAP97725;AAP97726;AAP97727;AAS86443;BAC85593;BAD18671;BAG53761;BAG59695;BAG59772;CAA07196;EAX02436;EAX02437;EAX02438;EAX02439;EAX02440;EAX02441;EAX02442;EAX02443;EAX02444;NP_001243556;NP_001243558;NP_001243559;NP_003948;Q8IWQ3 Hs.170819 1687173;1757719 RH91860;SHGC-146355 C11orf7;FLJ41362;PEN11B;SAD1;STK29 BR serine/threonine-protein kinase 2;OTTHUMP00000235105;OTTHUMP00000235106;OTTHUMP00000235107;OTTHUMP00000235108;OTTHUMP00000235109;OTTHUMP00000235112;OTTHUMP00000235113;brain-selective kinase 2;brain-specific serine/threonine-protein kinase 2;protein kinase SAD1B;serine/threonine kinase 29;serine/threonine kinase SAD-A;serine/threonine-protein kinase 29;serine/threonine-protein kinase BRSK2;serine/threonine-protein kinase SAD-A protein-coding ENSG00000174672 11405 609236 VALIDATED 5144472 BSN-AS2 BSN antisense RNA 2 (head to head) 3 3 3 p21.31 49555614 49556380 - 49566006 49566772 - 49586739 49591799 - 14702039 100132677 Q8N8P4 ABBA01024582;AC104452;AK096387;AK097709;AMYH01013159;NR_038866 BAC04774 Hs.435651 5020946;5037552;5118444 D11S3316;D8S2279;L17971 FLJ39068;FLJ40390 APPROVED miscrna ENSG00000226913 42445 VALIDATED 2306586 BSPH1 binder of sperm protein homolog 1 19 19 19 q13.33 45336802 45361003 - 53163115 53187239 - 48471303 48495427 - 19091820;18923155;17085770;15057824 100131137 Q075Z2 ABBA01033020;ABBA01033021;AC010330;AMYH01009896;DQ227497;NM_001128326 ABB71591;NP_001121798;Q075Z2 Hs.651072 BSP1;ELSPBP2 binder of sperm 1;binder of sperm protein homolog 1;bovine seminal plasma protein homolog 1;bovine seminal plasma protein-like 1;epididymal sperm binding protein 2 protein-coding ENSG00000188334 33906 612213 VALIDATED 1354337 BRWD3 bromodomain and WD repeat domain containing 3 The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010] X X X q21.1 80165105 80305366 - 79818339 79951889 - 79924987 80065233 - 6480464;7240710 17668385;17081983;16094372;15772651;15543602;15489334;14702039;12477932;19377476;18775313;21890473;22024541 254065 Q8N916 AA716141;ABBA01049135;ABBA01049136;ABBA01049137;ABBA01049138;ABBA01049139;ABBA01049140;ABBA01049141;ABBA01049142;ABBA01049143;ABBA01049144;ABBA01049145;ABBA01049146;ABBA01049147;AK090573;AK095887;AL512504;AL590031;AL669934;AMYH01022642;AY497046;AY497047;AY497048;AY497049;AY497050;AY497051;AY497052;AY497053;AY497054;AY497055;AY497056;AY497057;AY497058;AY497059;AY497060;BC039508;BC111490;BI825932;CB269573;NG_021349;NM_153252 AAI11491;AAS45471;AAS45472;AAS45473;AAS45474;AAS45475;AAS45476;AAS45477;AAS45478;AAS45479;AAS45480;AAS45481;AAS45482;AAS45483;AAS45484;AAS45485;BAC04641;NP_694984;Q6RI45 Hs.147027;Hs.613180 1683944;1766957;2109091 BRODL__4276;RH38736;SHGC-152486 BRODL;FLJ33254;FLJ38568;MRX93 OTTHUMP00000023606;bromo domain-containing protein disrupted in leukemia;bromodomain and WD repeat-containing protein 3;novel WD repeat domain protein APPROVED protein-coding ENSG00000165288 17342 06564 300553;300659 REVIEWED 1605672 BSDC1 BSD domain containing 1 1 1 1 p35.1 31101180 31130531 - 32603359 32632614 - 32830704 32860062 - 6480464 16710414;16341674;15489334;15342556;15203218;15146197;14702039;12975309;12477932;8125298;16169070;20360068;21139048 55108 B4DM89;C9JB13;E9PNA9;E9PQA7;E9PS77;F8W6C6;Q6MZK1 ABBA01023427;ABBA01023428;AK001138;AK021440;AK225026;AK225717;AK293454;AK297352;AK297604;AK300231;AK300306;AK304477;AK316172;AL109945;AMYH01000467;AY358230;BC010573;BC026322;BC028381;BM760887;BM995122;BP363955;BQ222609;BX641056;CD628901;CH471059;CN302967;CR457252;CR749228;NM_001143888;NM_001143889;NM_001143890;NM_018045 AAH26322;AAH28381;AAQ88597;ACE86967;ACE87657;BAA91517;BAB13825;BAG56950;BAG59801;BAG59989;BAG61999;BAG62059;BAG65290;BAH14543;CAE46029;CAG33533;CAH18084;EAX07525;EAX07526;EAX07527;EAX07528;EAX07529;EAX07530;NP_001137360;NP_001137361;NP_001137362;NP_060515;Q9NW68 Hs.353454 1694434;1768674;2127204;2132824;2145434;2145589;2154653;2162972;5093068 A007F44;A009F08;G32500;G42922;RH16033;RH41796;RH64707;SHGC-74479;SHGC-74531 DKFZp686B09139;FLJ10276;RP4-811H24.7 BSD domain-containing protein 1;OTTHUMP00000008867;OTTHUMP00000008869;OTTHUMP00000211102;OTTHUMP00000232914;OTTHUMP00000232915;OTTHUMP00000232916 protein-coding ENSG00000160058 25501 07658 VALIDATED 1345101 BRWD1 bromodomain and WD repeat domain containing 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011] 21 21 21 q22.2 25755073 25883187 - 39479274 39607426 - 40557404 40685712 - 6480464 16780588;14702039;12889071;12477932;12359327;10830953;9480850;8889548;21145461;16964240;20014019;20379614;16344560;21832049;18029348;15840729;18775313;19471022;21139048;21890473;22365631;22318606 54014 H0Y463;H0Y4A7;H0Y4R9;H0Y500;H0Y5I9;H7BZR9;H7C409;Q96QH0 AA807344;AB080586;AB080587;AB080588;AB080589;AB080590;AB080591;AB080592;AB080593;ABBA01009344;ABBA01009345;ABBA01009346;ABBA01009347;ABBA01009348;AF064861;AF129408;AI307266;AJ002572;AJ002574;AJ222636;AJ238214;AJ238555;AJ238556;AJ238573;AJ292465;AJ292466;AK002177;AK125906;AL109785;AL109786;AL162036;AL163279;AL558272;AMYH01012244;AMYH01012245;AMYH01012246;AMYH01012247;AMYH01012248;AU139205;BC031545;BC047058;BC064602;BC142986;BI914338;BP397411;BQ930702;CA503340;CH471079;DA792365;NG_029919;NM_001007246;NM_018963;NM_033656 AAH64602;AAI40080;AAI42987;BAD74071;BAD74072;BAD74073;BAD74074;BAD74075;BAD74076;BAD74077;BAD74078;CAA10896;CAB90452;CAC37033;CAC44371;CAC44372;EAX09657;EAX09658;EAX09659;EAX09660;EAX09661;NP_001007247;NP_061836;NP_387505;Q9NSI6 Hs.627139;Hs.654740 1335362;1652096;1675774;1683549;1701576;1739157;1799228;1799464;1799668;1800372;1800472;1800520;1800580;1800632;1800668;1800946;1801096;1801288;1802570;1803578;1803614;1803616;1804090;1805072;1805410;1805894;1806204;1806598;1807646;1807792;1808764;1808838;1809352;1809592;1810370;1810714;1811826;1812476;1812826;1812958;1814578;1814944;1816156;1816784;1817016;1817018;1817692;1817816;1818320;1819408;1819410;1819678;1820374;1820740;1821010;1821092;1822674;1822926;1823362;1823450;1823548;1824282;1825080;1825156;1825384;1826710;1829082;1829492;1829494;1830504;1830864;1832136;1832584;1832586;1833150;1833328;1833330;1833544;1835276;1835542;1837578;1837674;1838222;1838330;1838388;1839224;1839226;1839322;1839424;1840090;1840218;1840284;1840906;1841110;1841282;1841284;1842000;1842064;1842532;1843418;1843848;1844252;1844406;1844474;1844882;1845794;1846504;1848940;1852531;1858646;1897488;1897490;1897492;1897494;1897496;1897498;1897500;1897502;1897504;1897506;1897508;1897510;1897512;1897514;1897516;1897518;1897520;1897522;1897524;1897526;1897528;1897530;1897532;1897534;1897536;1897538;1897540;1897542;1897544;1897546;1897548;1897550;1897552;1897554;1897556;1897558;1897560;1897562;1897564;1897566;1897568;1897570;1897572;1897574;1897576;1897578;1897580;1897582;1897584;1897586;1897588;1897590;1897592;1897594;1897596;1897598;1897600;1897602;1897604;1897606;1897608;1897610;1897612;1897614;1897616;1897618;1897620;1897622;1897624;1897626;1897628;1897630;1897632;1897634;1897636;1897638;1897640;1897642;1897644;1897646;1897648;1897650;1897652;1897654;1897656;1897658;1897660;1897662;1897664;1897666;1897668;1897670;1897672;1897674;1897676;1897678;1897680;1897682;1897684;1897686;1897688;1897690;1897692;1897694;1897696;1897698;1897700;1897702;1897704;1897706;1897708;1897710;1897712;1897714;1897716;1897718;1897720;1897722;1897724;1897726;1897728;1897730;1897732;1897734;1897736;1897738;1897740;1897742;1897744;1897746;1897748;1897750;1897752;1897754;1897756;1897758;1897760;1897762;1897764;1897766;1897768;1897770;1897772;1897774;1897776;1897778;1897780;1897782;1897784;1897786;1897788;1897790;1897792;1897794;1897796;1897798;1897800;1897802;1897804;1897806;1897808;1897810;1897812;1897814;1897816;1897818;1897820;1897822;1897824;1897826;1897828;1897830;1897832;1897834;1897836;1897838;1897840;1897842;1897844;1897846;1897848;1897850;1897852;1897854;1897856;1897858;1897860;1897862;1897864;1897866;1897868;1897870;1897872;1897874;1897876;1897878;1897880;1897882;1897884;1897886;1897888;1897890;1897892;1897894;1897896;1897898;1897900;1897902;1897904;1897906;1897908;1897910;1897912;1897914;1897916;1897918;1897920;1897922;1897924;1897926;1897928;1897930;1897932;1897934;1897936;1897938;1897940;1897942;1897944;1897946;1897948;1897950;1897952;1897954;1897956;1897958;1897960;1897962;1897964;1897966;1897968;1897970;1897972;1897974;1897976;1897978;1897980;1897982;1897984;1897986;1897988;1897990;1897992;1897994;1897996;1897998;1898000;1898002;1898004;1898006;1898008;1898010;1898012;1898014;1898016;1898018;1898020;1898022;1898024;1898026;1898028;1898030;1898032;1898034;1898036;1898038;1898040;1898042;1898044;1898046;1898048;1898050;1898052;1898054;1898056;1898058;1898060;1898062;1898064;1898066;1898068;1898070;1898072;1898074;1898076;1898078;1898080;1898082;1898084;1898086;1898088;1898090;1898092;1898094;1898096;1898098;1898100;1898102;1898104;1898106;1898108;1898110;1898112;1898114;1898116;1898118;1898120;1898122;1898124;1898126;1898128;1898130;1898132;1898134;1898136;1898138;1898140;1898142;1898144;1898146;1898148;1898150;1898152;1898154;1898156;1898158;1898160;1898162;1898164;1898166;1898168;1898170;1898172;1898174;1898176;1898178;1898180;1898182;1898184;1898186;1898188;1898190;1898192;1898194;1898196;1898198;1898200;1898202;1898204;1898206;1898208;1898210;1898212;1898214;1898216;1898218;1898220;1898222;1898224;1898226;1898228;1898230;1898232;1898234;1898236;1898238;1898240;1898242;1898244;1898246;1898248;1898250;1898252;1898254;1898256;1898258;1898260;1898262;1898264;1898266;1898268;1898270;1898272;1898274;1898276;1898278;1898280;1898282;1898284;1898286;1898288;1898290;1898292;1898294;1898296;1898298;1898300;1898302;1898304;1898306;1898308;1898310;1898312;1898314;1898316;1898318;1898320;1898322;1898324;1898326;1898328;1898330;1898332;1898334;1898336;1898338;1898340;1898342;1898344;1898346;1898348;1898350;1898352;1898354;1898356;1898358;1898360;1898362;1898364;1898366;1898368;1898370;1898372;1898374;1898376;1898378;1898380;1898382;1898384;1898386;1898388;1898390;1898392;1898394;1898396;1898398;1898400;1898402;1898404;1898406;1898408;1898410;1898412;1898414;1898416;1898418;1898420;1898422;1898424;1898426;1898428;1898430;1898432;1898434;1898436;1898438;1898440;1898442;1898444;1898446;1898448;1898450;1898452;1898454;1898456;1898458;1898460;1898462;1898464;1898466;1898468;1898470;1898472;1898474;1898476;1898478;1898480;1898482;1898484;1898486;1898488;1898490;1898492;1898494;1898496;1898498;1898500;1898502;1898504;1898506;1898508;1898510;1898512;1898514;1898516;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N19985;REN19986;REN19987;REN19988;REN19989;REN19990;REN19991;REN19992;REN19993;REN19994;REN19995;REN19996;REN19997;REN19998;REN19999;REN20000;REN20001;REN20002;REN20003;REN20004;REN20005;REN20006;REN20007;REN20008;REN20009;REN20010;REN20011;REN20012;REN20013;REN20014;REN20015;REN20016;REN20017;REN20018;REN20019;REN20020;REN20021;REN20022;REN20023;REN20024;REN20025;REN20026;REN20027;REN20028;REN20029;REN20030;REN20031;REN20032;REN20033;REN20034;REN20035;REN20036;REN20037;REN20038;REN20039;REN20040;REN20041;REN20042;REN20043;REN20044;REN20045;REN20046;REN20047;REN20048;REN20049;REN20050;REN20051;REN20052;REN20053;REN20054;REN20055;REN20056;REN20057;REN20058;REN20059;REN20060;REN20061;REN20062;REN20063;REN20064;REN20065;REN20066;REN20067;REN20068;REN20069;REN20070;REN20071;REN20072;REN20073;REN20074;REN20075;REN20076;REN20077;REN20078;REN20079;REN20080;REN20081;REN20082;REN20083;REN20084;REN20085;REN20086;REN20087;REN20088;REN20089;REN20090;REN20091;REN20092;REN20093;REN20094;RH104422;RH65270;RH66958;RH78619;SHGC-30753;SHGC-51888;SHGC-87637;SHGC-87640;STS-R31946;WI-21887;stSG622591;stSG622592;stSG622593;stSG622594;stSG622595;stSG622596;stSG622597;stSG622598;stSG622599;stSG622600;stSG622601;stSG622602;stSG622603;stSG622604;stSG622605;stSG622606;stSG622607;stSG622608;stSG622609;stSG622610;stSG622611;stSG622612;stSG622613;stSG622614;stSG622615;stSG622616;stSG622617;stSG622618;stSG622619;stSG622620;stSG622621;stSG622622;stSG622623;stSG622624;stSG622625;stSG622626;stSG622627;stSG622628;stSG622629;stSG622630;stSG622631;stSG622632;stSG622633;stSG622634;stSG622635;stSG622636;stSG622637;stSG622638;stSG622639;stSG622640;stSG622641;stSG622642;stSG622643;stSG622644;stSG622645;stSG622646;stSG622647;stSG622648;stSG622649;stSG622650;stSG622651;stSG622652;stSG622653;stSG622654;stSG622655;stSG622656;stSG622657;stSG622658;stSG622659;stSG622660;stSG622661;stSG622662;stSG622663;stSG622664;stSG622665;stSG622666;stSG622667;stSG622668;stSG622669;stSG622670;stSG622671;stSG622672;stSG622673;stSG622674;stSG622675;stSG622676;stSG622677;stSG622678;stSG622679;stSG622680;stSG622681;stSG622682;stSG622683;stSG622684;stSG622685;stSG622686;stSG622687;stSG622688;stSG622689;stSG622690;stSG622691;stSG622692 C21orf107;FLJ43918;N143;WDR9 OTTHUMP00000068796;OTTHUMP00000068797;OTTHUMP00000068928;OTTHUMP00000207967;WD repeat protein WDR9-form2;WD repeat-containing protein 9;bromodomain and WD repeat-containing protein 1;cAMP response element binding and beta-tranducin family-like;transcriptional unit N143 APPROVED protein-coding ENSG00000185658 12760 11683 REVIEWED 1317732 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011] 11 11 q13 62214323 62231395 - 62457734 62477091 - 1600600;1600602;1600601;1580863;6480464;7240710 12584444;13680364;11479539 14981520;19252810;18698612;18612770;18585921;18458148;18250201;18224579;18155601;18093937;17535271;17486577;17420921;17387721;16435205;16427281;16344560;16341674;15732094;15489334;15342556;15181077;15126564;14702039;14602785;12477932;11389484;9110174;17663003;8619474;8125298;16189514;19438831;20598714;20806400;19226263;19278620;19323790;19396477;19574402;19762912;23088713;22234369;18690553;21750110;23142943;21906983;21957196;22474068;20301391;20301420;20301484;22505724;23470542 26580 E9PIU3;E9PJK0;E9PJS9;E9PPN5;E9PR78;E9PRU2;E9PSB5;F8W7Q8;F8WER0;H0YF20;H7BXM1;H7BYY0;H7C2D5;J3KQ12;Q96G97 ABBA01003238;ABBA01003239;ABBA01003240;AF052149;AK027524;AK075317;AK223606;AK225029;AK315423;AMYH01003690;AP001458;BC004911;BC009866;BC012140;BC041640;BC093048;BG699373;BM763152;BP370169;CD107822;CH471076;CQ783924;CS072299;DB178846;DB296305;NG_008461;NM_001122955;NM_001130702;NM_032667;NR_037948;NR_037949 AAH04911;AAH12140;AAH41640;AAH93048;ABM84409;ABW03570;BAB55175;BAC11543;BAD97326;CAF86927;CAI93437;EAW74070;EAW74072;EAW74073;EAW74074;EAW74075;EAW74078;EAW74080;EAW74081;NP_001116427;NP_001124174;NP_116056;Q96G97 Hs.533709 1298330;1335673;1739963;2127309;2139350;2167540;2178463;5106097;7187871 D11S1084;D11S1765;D11S4063;D11S4928;D11S987;Gng3;RH12527;RH12537 FLJ16651;GNG3LG;HMN5;MGC4694;SPG17 Bernardinelli-Seip congenital lipodystrophy 2 (seipin);OTTHUMP00000198002;OTTHUMP00000198004;OTTHUMP00000198005;OTTHUMP00000198006;OTTHUMP00000198007;OTTHUMP00000198008;OTTHUMP00000198009;OTTHUMP00000198013;bernardinelli-Seip congenital lipodystrophy type 2 protein;seipin APPROVED protein-coding ENSG00000168000 15832 05858 269700;270685;600794;606158 REVIEWED 735544 BSN bassoon presynaptic cytomatrix protein Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008] 3 3 p21.31 49566926 49683986 + 49591922 49708982 + 1580863;6480464 12477932;10329005;9806829;19422935;19367581;19165527;17554300;12628169;9679147;9455477;14734538;17554261;19567891;19657358;19812333;19915572;20024904;20307617;21092860;21092861;21102463;20846217;16751776;21297633;21700703;18029348;21906983;17620599;23128233 8927 Q9UPA5 AB007894;ABBA01024577;ABBA01024578;ABBA01024579;ABBA01024580;ABBA01024581;AC099668;AC104452;AF052224;AMYH01013160;AMYH01013161;AMYH01013162;AW131629;CH471055;NG_015892;NM_003458;Y18448;Y18449;Y18450;Y18451;Y18452 AAC83555;BAA23707;CAA77176;EAW64992;EAW64993;NP_003449;Q9UPA5 Hs.194684 1341798;2123049;2127855 D3S2456;D3S3133;G35047 ZNF231 OTTHUMP00000165198;bassoon (presynaptic cytomatrix protein);neuronal double zinc finger protein;protein bassoon;zinc finger protein 231 APPROVED protein-coding ENSG00000164061 1117 04933 604020 REVIEWED 1626189 BSX brain-specific homeobox 11 11 11 q24.1 120007843 120011864 - 122353567 122357589 - 122848357 122852379 - 6480464 17353277;14678827;18029348;18855024;21102462 390259 Q3C1V8 AB231738;ABBA01031278;AMYH01004097;AP003040;NM_001098169 BAE46889;NP_001091639;Q3C1V8 Hs.449687 BSX1 OTTHUMP00000196762;brain specific homeobox;brain-specific homeobox protein homolog protein-coding ENSG00000188909 20450 611074 VALIDATED 1346772 BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin) This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008] 1 1 p32.1 55237205 55247053 + 55464617 55474465 + 1600603;1580863;6480464;7240710 11687798 18843510;18776122;18094726;17954364;17652939;17510212;16849430;16773427;16572343;15496163;15489334;12761627;12574213;12477932;12111250;11734858;19913121;20628086;19096086;19646679;21269598;21832049;21541222 7809 Q5VU50;Q8WZ55 ABBA01074702;ABBA01074703;ABBA01074704;AK129999;AL589790;AL590440;AMYH01000641;AY034632;BC069510;BC103898;BC103899;BC103900;CH471059;NG_008965;NM_057176 AAI03899;AAI03900;AAI03901;AAK57750;EAX06661;NP_476517;Q8WZ55 Hs.151291 1336013;1722873;1792534;2107899 BSND_8762;D1S2652;G60531;PMC153210P1 BART;DFNB73;MGC119283;MGC119284;MGC119285 OTTHUMP00000009804;barttin;deafness, autosomal recessive 73 APPROVED protein-coding 16512 05914 602522;606412 REVIEWED 10249 BSG basigin (Ok blood group) The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 522325 534493 + 571277 583493 + 734663;734662;1580863;2289051;2289053;2289063;2289052;2289054;2289055;2289059;2296028;2296029;6480464;6484113 9559645;9245724;17671123;16633062;16029217;17021824;16627983;16004819;9154157;18223224;17342307 14985463;21146836;7821789;17353931;9767135;14707126;15946952;10880960;19438743;19427027;19337990;19298604;19223118;19176383;19093255;19019167;19015455;18997004;18852494;18847500;18816083;18778892;18762818;18751374;18695939;18689982;18689500;18688595;18665467;18664479;18608214;18567995;18554952;18508606;18456655;18434307;18431027;18430721;18273614;18256385;18160808;18160397;18048771;18035727;17996943;17965264;17962725;17725804;17589939;17579119;17460779;17444954;17441962;17267690;17209789;17145878;17127621;17088917;17081983;17081065;17050542;16911716;16824781;16778084;16771728;16721788;16507143;16461815;16443928;16425263;16396496;16339461;16310185;16207318;16189514;15904490;15890777;15833850;15831673;15823273;15770719;15711733;15671024;15632013;15489334;15340161;15201341;15181074;15161697;15057824;11943775;19548138;14749763;14729463;14702039;14671212;12975309;12939332;12925876;12902469;12898514;12792908;12754519;12692261;12553375;12526080;12477932;12174874;12173047;12117738;11992541;11688976;10921872;10706100;9360995;9130641;8752667;8404035;7812975;2032306;1846736;1783610;1634773;19019082;21441138;19921476;16712791;20369477;21536654;20514014;21039753;19995409;20381119;12558975;15901826;15917240;16080871;17540176;17593815;17706116;18774544;19048397;19176030;19350111;19372030;19473445;19500591;19541433;19580345;19582878;19597352;19615356;19615732;19639092;19751784;19758589;19768682;19775453;19779140;19885565;19956835;20047591;20060267;20082877;20083879;20147391;20199151;20236683;20406987;7273846;21083710;19950699;20483678;20824203;17633444;20658178;20345978;20558462;20810913;20021816;20451562;19913121;20384626;20451353;20454640;20628086;20631064;20646600;20525232;19863615;20213083;21228176;21119439;21165561;21245143;20082657;20563831;19734590;20514493;20021962;20021964;20969816;23012390;22490855;22626996;22906282;23135911;23393905;22460757;20455995;21211394;21470566;21355964;21687950;16344560;21967109;22366034;16196087;21320284;21343160;21641389;21613799;22800476;23005037;22592183;23687119;20629990;21620857;21745000;18781797;20473759;21726808;21942715;21956400;21987572;22080952;21660043;22198615;20360068;21532623;21665938;21870331;21937704;21563192;21655935;21924036;21994090;21694447;21789540;22280229;23474495;22575025;22320715;22670315;21554254;21787388;21809360;22130661;22200845;22200897;22215147;21464540;21918972;22298186;22389410;22427101;22659167;20509007;21328337;21693764;21890473;21906983;22129926;22374422;22417846;21145461;22555451;23258846;23455922;23463506;23221648;21963094;22304920;22595757;23097496;23383273;19214198;22053931;22505724;22844419;23577575;23178078;22883094;22870202;22640183;23263825;23292863 682 I3L192;P35613;Q54A51;R4GMX5;R4GN83 AB072923;AB085790;AB091680;ABBA01002575;AC005559;AC009005;AF042854;AF548371;AK095912;AK296858;AK297880;AK302231;AMYH01009191;AY358113;AY942196;BC009040;BG480530;BI464857;BU501595;CB153773;CH471242;D28441;D45131;DA007913;GU557064;GU557065;L10240;L20471;M87879;NG_007468;NM_001728;NM_198589;NM_198590;NM_198591;X64364 AAA68936;AAA91084;AAB41120;AAC33279;AAD10704;AAH09040;AAN40694;AAQ88480;AAX20110;ADD31881;ADD31882;ADZ15997;BAA05807;BAA08109;BAB88938;BAC67168;BAC76828;BAG59422;BAG60203;BAG63585;CAA45716;EAW61180;EAW61181;EAW61182;EAW61183;EAW61184;EAW61185;EAW61186;EAW61187;NP_001719;NP_940991;NP_940992;NP_940993;P35613 Hs.501293 1682025;5111635 RH79940;RH80808 5F7;CD147;EMMPRIN;M6;OK;TCSF CD147 antigen;OK blood group antigen;basigin;collagenase stimulatory factor;extracellular matrix metalloproteinase inducer;leukocyte activation antigen M6;tumor cell-derived collagenase stimulatory factor APPROVED protein-coding ENSG00000172270 1116 00176 109480;111380 REVIEWED 1347567 BSPRY B-box and SPRY domain containing 9 9 9 q32 86759422 86781124 + 115151633 115173334 + 116111812 116133513 + 6480464 15489334;15164053;14702039;12615066;12477932;11099500;10978534;19929093;18029348 54836 Q5W0U4 ABBA01042687;ABBA01042688;AJ276691;AK000157;AK092607;AL137066;AMYH01021669;BC001477;BX462607;CH471090;EL954585;NM_017688;W44700 AAH01477;BAA90980;BAG52581;CAC09324;EAW87374;NP_060158;Q5W0U4 Hs.614517 1337499;1648971;1649771 D7S647;RH35922;SHGC-34969 FLJ20150 B box and SPRY domain-containing protein;B-box and SPRY-domain containing protein;OTTHUMP00000022728;zetin 1 protein-coding ENSG00000119411 18232 16566 VALIDATED 1342632 BST1 bone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] 4 4 p15 15313739 15342893 + 15704573 15733796 + 1580863;6480464;6907045 8202488;19052657;18211745;16344560;16335952;15815621;15489334;15328157;12477932;12415565;11866528;11602246;11439087;10599889;9030974;8941363;8889548;8645283;8630113;20639476;19915576;20711177;21044948;21084426;20697102;22916288;21292315;21248740;21478153;22490479;22451204;21988832;23026536 683 A6NC48;H0Y8G4;H0Y984;H0Y9Q9;Q10588 AB175627;ABBA01032572;AC114744;AK312497;AMYH01014021;BC012095;BT019502;BU732655;CH471069;D21878;DA382561;NM_004334 AAH12095;AAV38309;AAY40930;BAA04885;BAE92566;BAG35399;EAW92744;NP_004325;Q10588 Hs.720344 1852460;2178676;2178678;2217080;5125864 BST1_2659;RH17388;RH36393;SHGC-35585;SHGC-50363 CD157 ADP-ribosyl cyclase 2;BST-1;NAD(+) nucleosidase;OTTHUMP00000123364;OTTHUMP00000123365;OTTHUMP00000217617;bone marrow stromal antigen 1;cADPr hydrolase 2;cyclic ADP-ribose hydrolase 2 APPROVED protein-coding ENSG00000109743 1118 02665 600387 VALIDATED 1346555 BST2 bone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008] 19 19 p13.1 17374755 17377384 - 17513755 17516384 - 1580863;6480464 19032371;18200009;12761501;7607676;19564354;19474106;19461879;19359243;19338666;19286137;19273615;19091864;22383521;16602701;16157322;15489334;12477932;10329429;8522202;8125298;21310048;22999946;22493439;21940748;20485522;18029348;19436700;19478868;19490609;19515779;19605472;19737401;19740980;19742323;19837671;19879838;20015985;20019814;20078884;20140192;20147389;20147395;20221443;20237496;20329562;20980512;21068238;20861257;20861258;20444895;20444900;20529266;20399176;20585562;20702620;20850859;20708210;20880831;20940320;20686043;20126395;19864625;20628624;20636339;21094940;21237475;21757214;21184674;21191020;21209114;20179761;21084286;20858517;21304933;21963094;21988832;23260108;21529378;21621240;21849457;22072710;22264038;21610122;21504576;21674066;21874899;21625568;21937450;21808013;22520941;21955466;21994744;21902775;22301143;21222046;22130541;22222210;22090135;22315404;22398279;22072961;21796732;19036818;22667354;23411007;23047007;23152502;23028328;23223624;23303646;23582304;23159053;23240078;23311681;23401591;23408603;23468424;18200012;18342597;18468560;18541215;18653459;18789977;19149577;19149995;19196977;19214216;19244337;19286130;19305418;19501037;19694548;19730691;19879831;19917491;19917496;19929170;20012522;20147723;20167081;20201792;20386718;20419159;20434978;20571604;20638642;20688520;20798829;20920359;20926557;21176220;21238941;21238946;21490095;21601230;21607084;21645334;21687426;21741003;21775449;21775465;21813615;21900423;21918813;21922073;21994665;21994772;22072966;22103835;22110710;22171785;22180752;22194693;22286874;22291694;22357275;22405001;22421880;22479182;22479480;22509177;22524175;22524176;22524177;22524178;22524179;22524180;22524181;22530020;22533470;22553496;22647704;22811908;22855686;22952667;22980332;23077864;23148293;23221546 684 Q10589 ABBA01051198;AC010319;AK223124;AK291099;AK303593;AMYH01009573;AY320402;BC033873;CH471106;D28137;NM_004335 AAH33873;AAP73804;BAA05679;BAD96844;BAF83788;BAG64608;EAW84602;EAW84603;NP_004326;Q10589 Hs.118110 1685249;1698158;1852237;2131548;2163175;2168109 RH102614;RH78341;RH80754;SHGC-35522;STS-R65788;STS-T47132 CD317;TETHERIN BST-2;HM1.24 antigen;NPC-A-7;OTTHUMP00000231653;bone marrow stromal antigen 2;tetherin APPROVED protein-coding ENSG00000130303 1119 02759 600534 REVIEWED 1352187 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011] 10 10 q22-q23 93673716 93780062 + 93683736 93790082 + 1580863;6480464 9342322;9488487;18025106;16531235;15509807;15302935;14988402;12646231;12477932;10642510;9054383;8849451;8764062;8764009;8680883;8121496;7933101;7836461;7835343;9159119;19505873;19454010;20627952;16385451;20379614;22939629;21252943;19471022;21139048;21890473;19322201 9044 B4E0W6;O14981;Q2M1V9;Q8N6J1 AB208843;ABBA01021919;ABBA01021920;ABBA01021921;AF038362;AF166116;AF166118;AJ001017;AK303554;AK308399;AL359198;AL365398;AMYH01002944;AMYH01002945;BC029930;BC030273;BC047009;BC112201;CH471066;CQ834836;NM_003972 AAC04573;AAF37802;AAF37803;AAH29930;AAH30273;AAH47009;AAI12202;BAD92080;BAG64578;CAA04475;CAH05633;EAW50102;EAW50103;NP_003963;O14981 Hs.500526 2217082 BTAF1_3495 KIAA0940;MGC138406;MOT1;TAF(II)170;TAF172;TAFII170 ATP-dependent helicase BTAF1;B-TFIID transcription factor-associated 170 kDa subunit;OTTHUMP00000020093;TATA-binding protein-associated factor 172;TBP-associated factor 172 APPROVED protein-coding ENSG00000095564 17307 05546 605191 VALIDATED 2301265 BTBD17 BTB (POZ) domain containing 17 17 17 17 q25.1 68945277 68950680 - 69864150 69869553 - 72352555 72357958 - 6480464 16625196 388419 A6NE02 ABBA01028841;AC103809;AMYH01008623;CH471099;NM_001080466 A6NE02;AAI68374;EAW89155;NP_001073935 Hs.211870 BTBD17A;LGALS3BPL;TANGO10A BTB/POZ and BACK domain-containing protein LOC388419;BTB/POZ domain-containing protein 17;galectin-3-binding protein-like;transport and golgi organization 10 homolog A protein-coding ENSG00000204347 33758 PROVISIONAL 3031244 BTBD19 BTB (POZ) domain containing 19 1 1 1 p34.1 43557034 43562677 + 45046741 45052388 + 45274154 45279801 + 6480464 14702039 149478 C9JJ37 ABBA01050907;AK056150;AK304611;AL592166;AMYH01000568;NM_001136537 BAG65396;C9JJ37;NP_001130009 Hs.743557 1743409;1780204;2161173;5015619;5015861;5037552;7185938 AL009769;D10S16;D11S3114;D8S2279;GDB:316029;SHGC-154623 RP11-269F19.7 BTB/POZ domain-containing protein 19;OTTHUMP00000203846;novel BTB domain containing protein protein-coding ENSG00000222009 27145 PROVISIONAL 1322160 BTBD1 BTB (POZ) domain containing 1 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q24 60850514 60901468 + 81476179 81527110 - 83685175 83736106 - 1580863;6480464 11179693;11256614;16381901;15489336;15489334;15486563;14702039;12878161;12477932;11818025;11230166;11076863;10737800;8125298;17543862;18247557;21145461;20531441;21092135;18305892;19615732;17549794;21326860;21890473;21906983;21963094;19295130;22505724 53339 H0YL89;Q9H0C5 ABBA01029433;ABBA01029434;AC022558;AC024270;AF257241;AF355402;AF529369;AK000731;AK225355;AK225362;AK294410;AK298534;AL136853;AMYH01006858;AY364253;BC017464;BC028097;BF095127;BI553790;CH471188;NM_001011885;NM_025238 AAH28097;AAK17068;AAK25825;AAQ09603;AAQ76812;ABM82384;ABM85561;BAA91345;BAH11757;BAH12808;CAB66787;CAL38638;EAW62429;EAW62430;NP_001011885;NP_079514;Q9H0C5 Hs.459149 1339899;1650262;1653639;1665933;1670701;1710720;1730103;1736512;1760599;2165676;2166586;2183516;7185569 D15S133E;D15S200;D15S623E;D15S719E;G09681;SHGC-144150;SHGC-63476;SHGC-63477;SHGC-83690;STS-R67078;STS-T59353;WI-13449 C15orf1;NS5ATP8 BTB domain containing 1;BTB/POZ domain-containing protein 1;HCV NS5A-transactivated protein 8;OTTHUMP00000190872;hepatitis C virus NS5A-transactivated protein 8 APPROVED protein-coding ENSG00000064726 1120 12251 608530 REVIEWED 2923345 BTBD18 BTB (POZ) domain containing 18 11 11 11 q12.1 54867702 54875969 - 57268182 57275829 - 57510986 57519253 - 6480464 11181995;12477932 643376 B2RXH4;E9PRF5 ABBA01021477;AI699344;AMYH01003654;AP001931;BC157853;BC157854;CH471076;DC346943;NM_001145101 AAI57854;AAI57855;B2RXH4;EAW73783;NP_001138573 Hs.606355 1782232 SHGC-100291 BTB/POZ domain-containing protein 18;OTTHUMP00000235477;hCG1730474 protein-coding ENSG00000233436 37214 VALIDATED 1318539 BTBD11 BTB (POZ) domain containing 11 12 12 12 q23.3 107377745 107718969 + 106236327 106577549 + 107712197 108053419 + 6480464 14702039;12477932;20379614;19913121;20628086;19734545 121551 B3KVD0;B3KXB0;C9JV03;H0YHR1;Q6ZV99 ABBA01053152;ABBA01053153;ABBA01053154;ABBA01053155;ABBA01053156;ABBA01053157;ABBA01053158;ABBA01053159;ABBA01053160;AC007540;AC007649;AC009774;AI638039;AK091276;AK094304;AK122818;AK124835;AK127012;AK127295;AK128445;AMYH01004726;AY373588;BC027931;BC093627;BC093629;BC101561;BC101563;BC146824;CH471054;NM_001017523;NM_001018072 A6QL63;AAH93627;AAH93629;AAI01562;AAI01564;AAI46825;AAR21078;BAC03626;BAC85963;BAG53742;BAG54422;BAG54475;BAG54675;EAW97799;EAW97800;EAW97801;NP_001017523;NP_001018082 Hs.271272 1337585;1671402;1712386;1712390;1712396;1712400;1722743;1734048;1763323;1772124;2121140;2148191;2153327;5014051;5024039;5037552 D11S3993;D12S1109;D12S1110;D12S1126;D12S1865;D12S353;D16S325;D8S2278;D8S2279;G54219;G54221;G54225;G54227;G60310;SHGC-147049;STS-W15573 FLJ33957;FLJ42845 ANK-repeat BTB domain containing protein;BTB/POZ domain-containing protein 11;OTTHUMP00000197304;OTTHUMP00000197305;OTTHUMP00000197306;OTTHUMP00000242590;ankyrin repeat and BTB/POZ domain-containing protein BTBD11 protein-coding ENSG00000151136 23844 12536 VALIDATED 7204475 BTBD7P1 BTB (POZ) domain containing 7 pseudogene 1 10 p13 13198681 13200136 - 441548 ABBA01034632;AL355355;AMYH01002041;AMYH01002042;NG_022140 pseudo 44875 INFERRED 7204476 BTBD7P2 BTB (POZ) domain containing 7 pseudogene 2 10 113082536 113083160 + 100420392 ABBA01063014;ABBA01063015;AC021035;AMYH01003067;NG_025540 pseudo 44876 INFERRED 1322924 BTBD16 BTB (POZ) domain containing 16 10 10 10 q26.13 117763200 117830044 + 124020811 124087666 + 124030821 124097676 + 6480464 18519826;15489334;15164054;14702039;12477932;16385451;19488044;20379614;22990118 118663 Q32M84 AA926746;ABBA01062846;AK058088;AL135793;AMYH01003135;BC109261;BC109262;BX842243;CH471066;NM_144587 AAI09262;AAI09263;BAB71658;EAW49320;EAW49321;NP_653188;Q32M84 Hs.422466 C10orf87;FLJ25359;MGC129864;MGC129865 BTB/POZ domain-containing protein 16;OTTHUMP00000020649;chromosome 10 open reading frame 87 protein-coding ENSG00000138152 26340 12594 VALIDATED 1323177 BTBD3 BTB (POZ) domain containing 3 20 20 20 p12.2 11941645 11977412 + 11819477 11855243 + 11871477 11907243 + 1580863;6480464 14702039;12477932;12421765;11780052;10231032;20463552;21348951;21987572;21890473;21963094;19322201;21720722;23000965;23251661 22903 B0QYQ9;B0QYR0;B0QYR1;F8WAQ4;Q9Y2F9 AB023169;ABBA01053947;AK024349;AK296364;AK299281;AK300371;AK307472;AK316256;AL035448;AL137756;AMYH01011715;AMYH01011716;BC093677;BC101527;BC109315;BC109316;CB961606;CH471133;NM_014962;NM_181443 AAH93677;AAI01528;AAI09316;AAI09317;BAA76796;BAG59039;BAG61298;BAG62107;BAH14627;CAB70908;EAX10327;EAX10328;NP_055777;NP_852108;Q9Y2F9 Hs.709366 1849983;2109095;2122459;2147151;2161831;2168743 A002V06;BTBD3__4280;D20S597E;RH46091;SGC38379;SHGC-31930 KIAA0952;MGC130038;MGC130039;dJ742J24.1 BTB/POZ domain-containing protein 3;OTTHUMP00000030288;OTTHUMP00000030289;OTTHUMP00000197601;OTTHUMP00000197603;OTTHUMP00000197605;OTTHUMP00000197606 protein-coding ENSG00000132640 15854 12538 VALIDATED 1601947 BTBD10 BTB (POZ) domain containing 10 11 11 11 p15.2 13535739 13611028 - 13366131 13441414 - 13409555 13484838 - 6480464 18160256;16344560;15556295;15489334;21145461;21267538;14702039;12477932;16169070;20379614;22388351;23080069;18029348;21139048;21906983;21963094;22321011;21900206 84280 B7Z228;B7Z503;D3DQW7;E9PKM7;E9PKU9;E9PN21;E9PPD8;Q6P5W1;Q9BSF8 ABBA01061123;ABBA01061124;ABBA01061125;AC016884;AC021269;AF329102;AK095946;AK292392;AK294259;AK294768;AK298226;AK310935;AK316163;AL832981;AMYH01003399;AY221959;BC005071;BC017072;BC062633;CH471064;DB030132;NM_032320 AAH05071;AAH17072;AAH62633;AAL69061;AAO64360;ACE86711;ACE87396;BAF85081;BAH11714;BAH11877;BAH12739;BAH14534;CAH56329;EAW68497;EAW68498;EAW68499;EAW68500;EAW68501;EAW68502;NP_115696;Q9BSF8 Hs.332382 1340715;1644947;1652650;1652652;1744311;1797148;7184463 A005L39;D11S926;G20319;GDB:451631;HSC0WD062;MGC13007 GMRP-1;GMRP1;MGC13007 BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10;BTB/POZ domain-containing protein 10;K+ channel tetramerization protein;OTTHUMP00000230967;OTTHUMP00000230969;OTTHUMP00000230970 protein-coding ENSG00000148925 21445 17045 VALIDATED 5135100 BTBD9-AS1 BTBD9 antisense RNA 1 6 38449372 38450303 + 100505567 XR_108642;XR_133425 APPROVED miscrna 40959 1344972 BTBD2 BTB (POZ) domain containing 2 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1919445 1949684 - 1936447 1966702 - 1985447 2015702 - 1580863;6480464 16169070;18305892;15761153;15489334;15231748;15057824;14702039;12878161;12782588;12477932;11818025;11179693;9110174;8619474;8125298;17543862;21145461;20610542;21092135;19615732;20368557;18775313;21139048;21890473;21900206;21906983;19295130 55643 K7EMW9;K7ENV9;Q9NX81 ABBA01002699;ABBA01002700;AC004678;AC005306;AF355797;AK000393;AK027481;AK056818;AK225831;AL360275;AMYH01009272;AY007116;BC000564;BC008035;BC053986;BC069199;BC094820;BU849231;CH471139;CR457230;NM_017797 AAC16070;AAC26984;AAG45443;AAH00564;AAH08035;AAH53986;AAH69199;AAH94820;AAI52719;AAI56975;AAK25826;BAA91136;BAB55143;CAB96527;CAG33511;EAW69424;EAW69425;NP_060267;Q9BX70 Hs.465543 1686094;1686592 RH93415;RH93682 BTB/POZ domain-containing protein 2 APPROVED protein-coding ENSG00000133243 15504 12252 608531 REVIEWED 1345329 BTBD7 BTB (POZ) domain containing 7 14 14 14 q32.12 73757920 73853399 - 92773649 92869138 - 93703896 93799385 - 6480464 15489334;14702039;12477932;11527404;10819331;21145461;21906983 55727 E7ERI4;G3V2J4;G3V3T2;H0YJ41;H3BLV3;Q9P203 AB040958;ABBA01030432;ABBA01030433;ABBA01030434;AI452701;AK001510;AK021953;AK074354;AK091287;AK291422;AK303355;AL049394;AL122023;AL132838;AMYH01005965;BC047071;BC141850;BX248762;BX538231;CH471061;NM_001002860;NM_018167 AAH47071;AAI41851;AAI67795;BAA91730;BAA96049;BAB13946;BAF84111;BAG64416;CAD66569;CAD98074;CAH10736;EAW81525;EAW81526;EAW81527;EAW81528;EAW81529;NP_001002860;NP_060637;Q9P203 Hs.525549 1338362;1660252;1667847;1754733;1851482;1855420;2128070;2147949;2156192;2170633;2172077;2191239;5015404;5016478;5021396;7187892 D14S574;D14S81;G35930;GDB:313783;GDB:434012;L17705;MARC_16723-16724:1018027059:1;RH11308;RH44522;RH44561;RH48317;RH69546;SHGC-133097;SHGC-36758;WI-20863 DKFZp686N0544;FUP1;MGC48310 BTB/POZ domain-containing protein 7;OTTHUMP00000245685;OTTHUMP00000245686;OTTHUMP00000245687;OTTHUMP00000245688 protein-coding ENSG00000011114 18269 12541 610386 VALIDATED 1352605 BTBD6 BTB (POZ) domain containing 6 14 14 14 q32 85764120 85766668 + 104786053 104788474 + 105714879 105717430 + 1580863;6480464 15489334;12477932;12107413;8889548;20080956;16751776;22990118;21988832;21573799 90135 F8VPC8;Q96KE9 ABBA01008868;ABBA01008869;AF086420;AF173358;AF353674;AL512355;AMYH01006078;BC006414;BC042525;BU730253;CH471061;DB456488;NG_029489;NM_033271 AAF36536;AAH06414;AAH42525;AAK39520;EAW81913;EAW81914;NP_150374;Q96KE9 Hs.7367 1712274;2173980 G54046;SGC31908 BDPL BTB domain protein BDPL;BTB/POZ domain-containing protein 6;OTTHUMP00000163908;OTTHUMP00000212815;OTTHUMP00000243800;glucocorticoid receptor AF-1 coactivator-1;lens BTB domain protein protein-coding ENSG00000184887 19897 12540 VALIDATED 1347221 BTBD8 BTB (POZ) domain containing 8 1 1 1 p22.1 90792299 90859815 + 92318481 92385985 + 92545862 92613397 + 6480464 15489334;14654994;12477932;21145461;18029348;20562859;23251661 284697 B4DKD6;Q5XKL5 ABBA01045552;ABBA01045553;ABBA01045554;AC104836;AK296516;AMYH01000794;AY346333;BC013922;CH471097;NM_183242 AAH13922;AAQ24383;BAG59148;EAW73102;EAW73103;EAW73104;NP_899065;Q5XKL5 Hs.676102 1692784;1773267;1848017 AL033751;G15734;SHGC-75148 BTB/POZ domain-containing protein 8;OTTHUMP00000011944;OTTHUMP00000011945;double BTB/POZ domain containing protein protein-coding ENSG00000189195 21019 12542 VALIDATED 5128907 BTF3L4P1 basic transcription factor 3-like 4 pseudogene 1 21 21 4065581 4066084 - 18889252 18891379 - 100505945 ABBA01057120;AMYH01012149;AP000963;NG_028972;NG_029458 basic transcription factor 3-like 4 pseudogene 1;transcription factor BTF3 homolog 4-like pseudo 39645 INFERRED 5128906 BTF3L4P2 basic transcription factor 3-like 4 pseudogene 2 2 2 2 q24.2 153476913 153477981 + 159568511 159569377 + 159860162 159861230 + 11181995 653189 ABBA01004858;AC010093;AMYH01011204;NG_006120 BTF3L4P pseudo 39646 INFERRED 5128953 BTF3L4P4 basic transcription factor 3-like 4 pseudogene 4 4 4 q32.3 166849143 166849654 - 169519266 169519977 - 9847074 100506061 ABBA01070331;AC079926;AMYH01014697;NG_028949 pseudo 39648 INFERRED 1354341 BTF3P1 basic transcription factor 3, pseudogene 1 8 8 8 q11.23 48622062 48623852 - 52796779 52797298 - 52633816 52635606 - 1386332 693 ABBA01041691;AC090186;AMYH01018714;M90353;NG_001086 HUMBTFA pseudo 1129 INFERRED 736353 BTC betacellulin The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. [provided by RefSeq, Jul 2008] 4 4 q13.3 75890472 75938853 - 75671448 75719882 - 1580863;1357906;2306978;2306966;2306973;2306965;2313774;2306967;2324625;2326087;2317963;6480464;6484113;6907045 14988244;12148846;16683131;15793259;18388935;19819964;16306376;11564606;10724350;15982853 10940639;10706134;9662041;9528863;8919026;7590736;8144591;8439318;18508082;17962208;17895248;17525275;17479438;16869959;16381901;15936459;15507448;15489336;15489334;15274392;15248827;15192046;12768307;12477932;12111392;12074582;11522793;11254912;11076863;20165885;20530572;22183345 685 H0Y8Q5;P35070 AB109441;AB109443;ABBA01063340;AC098825;AC116645;AC123887;AMYH01014303;BC011618;CH471057;NM_001729;S55606 AAB25452;AAH11618;BAC76609;BAC76611;CAL37603;CAL37873;CAL38181;CAL38427;EAX05712;NP_001720;P35070 Hs.710156 1731861;2134874;2154385 D4S1633E;SHGC-35798;SHGC-59577 OTTHUMP00000160600;OTTHUMP00000219057;probetacellulin APPROVED protein-coding 1121 02643 600345 REVIEWED 5552923 BTF3L4P3 basic transcription factor 3-like 4 pseudogene 3 6 6 q23.3 137906727 137913765 - 137864639 137865580 - 20190752 391040 ABBA01025818;AL023580;AMYH01016701;NG_030609 1715753;1721225;5094216 G54617;G59456;RH119323 pseudo 39647 INFERRED 1315893 BTBD9 BTB (POZ) domain containing 9 This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] 6 6 6 p21 39689759 40161407 - 38244205 38715902 - 38136227 38607924 - 1580863;6480464 19279021;19223043;18363860;17637780;17634447;16344560;14702039;12477932;11572484;21145461;19615732;19822783;20379614;22486183;21572129;21925394;22914617;21139048;21906983;21779176;22505724 114781 C9J8E4;C9JVC1;H7C5Z6;Q96Q07 AB067467;ABBA01038295;ABBA01038296;ABBA01038297;ABBA01038298;ABBA01038299;ABBA01038300;ABBA01038301;ABBA01038302;ABBA01038303;AK057507;AK090930;AK126242;AL031905;AL033518;AL079341;AL157476;AL355345;AL451162;AMYH01016285;AMYH01016286;AMYH01016287;BC035667;BC101354;BC101355;BC101356;BC101357;BX537534;CH471081;DA391209;DB095510;NG_016545;NM_001099272;NM_001172418;NM_052893;NM_152733 AAI01355;AAI01356;AAI01358;BAB67773;BAB71514;BAC03550;EAX03959;EAX03960;EAX03961;NP_001092742;NP_001165889;NP_443125;NP_689946;Q96Q07 Hs.603858 1340444;1649023;1649025;1655548;1661626;1661908;1693338;1694204;1701438;1704000;1705032;1732539;1751695;1752469;1775102;1777266;1855733;1856599;2126797;2131858;2161356;2165647;5020631 A005M39;AL034434;AL035196;D6Rat38;D6S1912;D6S2430;D6S389;D6S943;FB21E3;G20340;RH104351;RH16174;RH45619;RH46658;SHGC-105745;SHGC-106396;SHGC-77787;SHGC-78033;STS-AA019721;STS-R05478;STS-Z39767;WI-16237;WI-20491 FLJ32945;KIAA1880;MGC120517;MGC120519;MGC120520;dJ322I12.1 BTB/POZ domain-containing protein 9;OTTHUMP00000016336;OTTHUMP00000016338;OTTHUMP00000216692 APPROVED protein-coding ENSG00000183826 21228 12543 611237 REVIEWED 1313273 BTD biotinidase The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] 3 3 p25 15618259 15662329 + 15643255 15687325 + 1580863;6480464;6907045;7240710 7509806;7550325;18645204;18479898;17185019;16341674;16335952;15776412;15489334;12618081;12477932;12359137;11668630;10737800;10655158;10206677;9654207;9530634;9396567;9099842;8001986;3930841;1679665;19728141;19757147;20539236;19806568;20549359;20556795;20532819;21378990;23314748;22911723;20301497 686 A6NHF2;B4DLJ9;C9J387;C9JSN9;F8W1Q3;F8WCU5;P43251 ABBA01025137;ABBA01025138;AC027129;AF018631;AI391654;AK294301;AK297033;AK301838;AK313252;AL573841;AMYH01013002;BC012099;BE814688;BE814713;BM565546;BM839350;BM919775;BP326502;CH471055;NG_008019;NM_000060;NM_001281723;NM_001281724;NM_001281725;NM_001281726;U03274 AAC04318;AAC21679;AAH12099;BAG36062;BAG57582;BAG59561;BAH13565;EAW64254;EAW64255;EAW64256;NP_000051;NP_001268652;NP_001268653;NP_001268654;NP_001268655;P43251 Hs.517830 1664988;1689849;1730387;1735254;1740031;1774635;2110285;2111384;2133217;2141658 BTD_8233;D17S1646E;D3S2760E;D3S2915E;D3S3311;D3S3496;D3S4178;RH91153;STS-U03274;WI-7349 OTTHUMP00000160300;OTTHUMP00000209134;OTTHUMP00000209135;OTTHUMP00000209138;biotinase;biotinidase APPROVED protein-coding ENSG00000169814 1122 08359 253260;609019 REVIEWED 1345867 BTF3P13 basic transcription factor 3 pseudogene 13 This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. [provided by RefSeq, Jul 2008] 4 4 4 q23 96956905 96957776 + 99880744 99881660 + 99661776 99662647 + 1580863 1386332 132556 ABBA01063660;AC114811;AMYH01014417;M90356;NG_006070 AAA58401 BTF3L3;HUMBTFD APPROVED pseudo 1128 603739 INFERRED 3340241 BTF3P14 basic transcription factor 3 pseudogene 14 17 17 17 p13.2 6246271 6247084 - 6059350 6167272 - 6225735 6226548 - 100132641 ABBA01054827;AC005668;AMYH01008056;NG_022441 2180232 D17S2125 pseudo 38571 INFERRED 1347464 BTF3P12 basic transcription factor 3 pseudogene 12 This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. [provided by RefSeq] 8 8 8 q13.3 67183184 67184089 + 71347952 71349049 + 71185498 71186403 + 1580863;6480464 1386332 652963 ABBA01041939;AC021558;AMYH01018782;M90355;NG_005366 AAB04035 BTF3L2;HUMBTFC APPROVED pseudo 1127 603738 INFERRED 3028811 BTF3P15 basic transcription factor 3 pseudogene 15 10 10 10 q25.1 105032230 105032710 + 111284403 111284883 + 111294413 111294887 + 100130409 ABBA01063040;AL589948;AMYH01003055;NG_028759 pseudo 38567 INFERRED 4144714 BTF3P16 basic transcription factor 3 pseudogene 16 3 3 3 q12.3 99568118 99568979 - 102658520 102659380 - 101175829 101176690 - 643412 ABBA01061776;AC110994;AMYH01013360;NG_005360 pseudo 38568 INFERRED 5553009 BTF3P3 basic transcription factor 3, pseudogene 3 8 8 p21.3 22405861 22406933 + 22350013 22350888 + 652964 ABBA01005519;AC037459;AC087854;AMYH01018566;NG_005367 pseudo 31100 INFERRED 3498029 BTF3P4 basic transcription factor 3 pseudogene 4 9 9 9 q21.13 45295192 45296051 - 73912199 73913258 - 74722479 74723338 - 392350 ABBA01033851;AL583829;AMYH01021404;NG_005362 pseudo 38566 INFERRED 1344981 BTF3P2 basic transcription factor 3, pseudogene 2 14 14 14 q12 9007695 9008544 - 28211854 28212804 - 29142198 29143047 - 283631 ABBA01061375;AL121766;AMYH01005628;NG_002470 pseudo 19924 INFERRED 3160707 BTF3P7 basic transcription factor 3 pseudogene 7 6 6 6 p25.1 8024624 8025469 - 6739788 6740822 - 6794889 6795734 - 652960 ABBA01022023;AL391535;AMYH01016059;NG_005364 pseudo 38569 INFERRED 3160708 BTF3P5 basic transcription factor 3 pseudogene 5 2 2 2 p16.1 55502437 55503260 - 55515436 55516447 - 55662032 55662855 - 652959 ABBA01075267;AC019198;AMYH01010362;NG_005363 pseudo 38565 INFERRED 3160706 BTF3P8 basic transcription factor 3 pseudogene 8 X X X q11.1 63333492 63334321 + 62903275 62904293 + 62986639 62987468 + 652961 ABBA01066821;AL451106;AMYH01022492;NG_005365;NG_016975 pseudo 38572 INFERRED 4109587 BTF3P6 basic transcription factor 3 pseudogene 6 21 21 q22.11 20090551 20091049 - 34890917 34891415 - 100499261 ABBA01057350;AMYH01012211;AP000303;NG_023442;NG_029160 1811444;1811930;2029126;2029128;2029130;2029132;2029134;2029136;2029138;2029140;2029142;2029144 ECD06721;ECD06969;REN85567;REN85568;REN85569;REN85570;REN85571;REN85572;REN85573;REN85574;REN85575;REN85576 pseudo 23765 INFERRED 1344506 BTF3P11 basic transcription factor 3 pseudogene 11 13 13 13 q22 58400594 58401233 + 76400101 76400936 + 77502585 77503224 + 1580863;6480464 12477932;9325059;1386332;18445777 690 ABBA01021659;AC000403;AMYH01005222;BC106717;BC106718;BC115358;CH471093;M90354;NR_026983 AAA58400;EAW80559 Hs.567241 1677742;5492555 RH76254;UniSTS:481612 BTF3L1;HUMBTFB;OCIF;OPG;TNFRSF11B APPROVED pseudo 1126 602543 PROVISIONAL 3231910 BTG1P1 B-cell translocation gene 1 pseudogene 1 12 12 12 p13.31 10824633 10825308 + 9178785 9179460 + 9287518 9288193 + 100129641 ABBA01012257;AC007436;AMYH01004244;NG_016577 pseudo 37692 INFERRED 1317667 BTF3 basic transcription factor 3 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 68689543 68696740 + 72830006 72837204 + 72794250 72801448 + 1580863;6480464 1386332;18025262;2320128;17312387;15716105;15489334;12477932;11329013;10094400;8125298;8047162;19615732;20972266;21139048;21890473;21906983;15492215;21832049;22863883;22939629;20000738;20016921;22053931;22505724 689 D6RDG3;H0Y9Y1;P20290 AB062126;ABBA01061918;AC099522;AK225964;AK291125;AK310919;AMYH01015406;BC008062;BC061913;BG182166;BT007120;BU661989;BX359147;BX537826;CH471084;M90352;M90357;NM_001037637;NM_001207;X53280;X74070 AAA58398;AAH08062;AAP35784;ABM83902;ABM87223;BAB93458;BAF83814;CAA37375;CAA52200;EAW95723;EAW95724;EAW95725;EAW95726;EAW95727;EAW95728;NP_001032726;NP_001198;P20290 Hs.591768 1848504;2115319;2179206;5019026 G42974;RH70088;STS-N23069;STS-N27423 BETA-NAC;BTF3a;BTF3b;NACB OTTHUMP00000128196;OTTHUMP00000128197;OTTHUMP00000222431;RNA polymerase B transcription factor 3;nascent-polypeptide-associated complex beta polypeptide;transcription factor BTF3 APPROVED protein-coding ENSG00000145741 1125 03966 602542 REVIEWED 2881281 BTF3P9 basic transcription factor 3 pseudogene 9 1 1 1 q42 200813009 200813549 + 225688052 225689264 + 227621767 227622307 + 12477932;21906983 503543 ABBA01009613;AL606462;AMYH01001780;BC062736;NG_004831 Hs.586511 5019026 G42974 pseudo 38573 INFERRED 1605903 BTF3L4 basic transcription factor 3-like 4 1 1 1 p32.3 50809334 50841560 + 52294561 52326652 + 52521857 52556388 + 6480464 22939629;16710414;15489334;14702039;12477932;11181995;22863883;16344560;21139048;19322201;22505724 91408 E9PL10;E9PPC3;Q96K17 ABBA01074781;AK027582;AK027750;AL139156;AL445685;AL606761;AMYH01000618;AX882440;BC021004;BC022371;BC070378;BU567198;BU785869;CH471059;DA369498;NM_001136497;NM_001243767;NM_152265 AAH21004;AAH22371;AAH70378;ABZ92137;BAB55342;BAG51353;CAE91581;EAX06795;EAX06796;EAX06797;EAX06798;EAX06799;NP_001129969;NP_001230696;NP_689478;Q96K17 Hs.429839 1690362;1717905;1739957;2122958;2129428;5037552 D1S2194;D1S2523;D8S2279;RH122826;RH18833;RH93314 MGC23908;MGC88389;RP4-800M22.5 OTTHUMP00000010514;OTTHUMP00000231781;OTTHUMP00000231782;OTTHUMP00000231783;transcription factor BTF3 homolog 4;transcription factor BTF3-like protein-coding ENSG00000134717 30547 17521 VALIDATED 1318793 BTG4 B-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. [provided by RefSeq, Jul 2008] 11 11 11 q23 108491434 108536253 - 110843465 110888274 - 111338255 111383079 - 1580863;6480464 10995567;18519671;15672409;12477932;11429045;11267995;16709802;19576178;20309940 54766 E9PRM5;Q8NEH7;Q9NY30 ABBA01039819;ABBA01039820;AJ271351;AMYH01004030;AP002008;BC031045;BX099301;CH471065;HC006790;HC044731;NM_017589 AAH31045;ABM81904;ABM84644;CAB69821;CBH19201;CBH30695;EAW67140;NP_060059;Q9NY30 Hs.128180;Hs.734027 1646835 D11S1137 MGC33003;PC3B BTG family member 4;OTTHUMP00000234045;protein BTG4;protein PC3b APPROVED protein-coding ENSG00000137707 13862 16138 605673 REVIEWED 69157 BTG2 BTG family, member 2 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. [provided by RefSeq, Jul 2008] 1 1 q32 201541287 201545353 + 203274664 203278730 + 1580863;2289074;2289078;2289068;2289069;2289070;2289075;2289081;6480464 14697320;9712737;16849553;14996721;11470758;12909328;7684483 22266859;17353931;8944033;19468252;19117054;18974182;18840609;18393292;18337750;18288394;18196550;18029348;17371797;16997058;16782888;16710414;16418486;15788397;15741235;15542835;15489334;15378000;15056715;12771185;12477932;12360398;12135500;11989967;11930152;11856371;11814693;22392501;11429045;11377414;11267995;11237868;11136725;10669755;10617598;10341341;10200315;9828097;9712883;8891336;8663146;1713584;20553615;19728149;19546886;19615363;20020054;19203451;20569234;18773938;21172304;20398657;22562501;21173166;22614007;21120602;23299537;23089312;22493435;22975506 7832 P78543 ABBA01027483;AF361937;AL513326;AMYH01001655;BC105948;BC105949;CH471067;NM_006763;U72649;Y09943 AAB37580;AAI05949;AAI05950;AAL05626;ABZ92453;CAA71074;EAW91475;EAW91476;NP_006754;P78543 Hs.519162 1795448;2179801 BTG2_75;SHGC-4213 MGC126063;MGC126064;PC3;TIS21 B-cell translocation gene 2;NGF-inducible anti-proliferative protein PC3;OTTHUMP00000033982;b-cell translocation gene 2, anti-proliferative;nerve growth factor-inducible anti-proliferative;pheochromacytoma cell-3;protein BTG2 APPROVED protein-coding ENSG00000159388 1131 03357 601597 REVIEWED 736072 BTG1 B-cell translocation gene 1, anti-proliferative This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008] 12 12 q22 91061030 91063751 - 92534054 92539673 - 2298943;6480464 16245302 9820826;11420681;15033446;1373383;9690562;16344560;15674337;15489334;14734530;12477932;12135500;11856371;11429045;11136725;10617598;8663146;2069907;16189514;20445134;18029348;18814951;19515430;9712883;20354172;22868968;22990118;21900206;22072402;22975506 694 F8W0U7;P62324;Q6IBC8 ABBA01053398;AC025164;AK307057;AK313309;AMYH01004654;AY850133;BC009050;BC016759;BC064953;BT019839;BT019840;BT019841;CH471054;CR456876;CR541782;DB042281;NM_001731;S38424;S38425;X61123 AAA08538;AAH16759;AAH64953;AAV38642;AAV38643;AAV38644;AAV97814;ABW03541;ABW03845;BAG36114;CAA43435;CAG33157;CAG46581;EAW97466;EAW97467;NP_001722;P62324 Hs.255935 1649373;1744005;1795224 BTG1_60;GDB:384770;RH45870 B-cell translocation gene 1 protein;OTTHUMP00000242800;protein BTG1 APPROVED protein-coding 1130 15912 109580 REVIEWED 733952 BTG3 BTG family, member 3 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 21 21 21 q21.1 4140718 4160017 - 17887842 17907033 - 18965968 18985268 - 1580863;6480464 9632145;19221000;18590053;17690688;16713569;16344560;15489334;12477932;11429045;11377414;10940556;10830953;9067576;21145461;20360068;21078624;22020331;21906983;21963094;23533280 10950 C9JLA2;Q14201;Q6IAU3 ABBA01057122;AF200465;AK289408;AL049332;AMYH01012150;AP000432;AP000967;BC011957;BC028229;BF110486;BT007276;CH471079;CR457061;D64110;DA381239;DR155504;NM_001130914;NM_006806 AAF24345;AAH11957;AAP35940;ABM82261;ABW03379;BAA33788;BAF82097;CAG33342;EAX10026;EAX10027;EAX10028;EAX10029;NP_001124386;NP_006797;Q14201 Hs.473420 1686664;1688654;1784486;1795450 BTG3_1548;RH45478;RH79886;SHGC-172493 ANA;MGC8928;TOB5;TOB55;TOFA B-cell translocation gene 3;OTTHUMP00000083229;OTTHUMP00000083230;abundant in neuroepithelium area protein;protein BTG3;protein Tob5 APPROVED protein-coding ENSG00000154640 1132 10415 605674 REVIEWED 1350737 BTLA B and T lymphocyte associated This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011] 3 3 q13.2 113665503 113701098 - 112182813 112218408 - 1580863;6480464 21403914;22459947;22179929;14702039;12796776;14652006;12477932;10737800;19207938;19155498;17257317;17024343;16643847;16169851;16131544;15647361;15568026;15489334;16932752;19585237;19762537;19915044;20066438;20331378;20693422;22691359;21592997;21920726;21959263;21982860;22903545;22205715;22634623 151888 Q400G7;Q7Z6A9 AA828425;ABBA01061663;ABBA01061664;AC092894;AI792952;AJ717664;AK131204;AK292692;AMYH01013392;AW294080;AY293286;AY599411;AY606805;BC107091;BC107092;BE832323;CD702861;DQ198368;NM_001085357;NM_181780 AAI07092;AAI07093;AAP44003;AAT44901;AAV41229;ABA54407;BAD18396;BAF85381;CAG30680;NP_001078826;NP_861445;Q7Z6A9 Hs.445162 2164471 AFMC026XC9 BTLA1;CD272;FLJ16065;MGC129743 B and T lymphocyte attenuator;B- and T-lymphocyte attenuator;B- and T-lymphocyte-associated protein;OTTHUMP00000214514;OTTHUMP00000214515 APPROVED protein-coding ENSG00000186265 21087 06392 607925 VALIDATED 1315909 BTN1A1 butyrophilin, subfamily 1, member A1 Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008] 6 6 p22.1 26608550 26618629 + 26501495 26510653 + 1580863;6480464 8611614;19084217;16498413;15489334;14574404;12477932;12456835;11170752;10429365;10376248;9382921;8132890;8114113;7775382;6830779;19531472;19596235;21915327 696 Q13410;Q4VAN2 AA768577;ABBA01066556;AL121936;AMYH01016163;AW977526;BC096312;BC096313;BC096314;BC096315;CH471087;NM_001732;U39576 AAC50489;AAH96312;AAH96313;AAH96314;AAH96315;EAW55585;NP_001723;Q13410 Hs.153058 1681933;1683497;2106453;2173140 BTN1A1_4475;D6S2360;RH80832;RH91955 BT;BTN OTTHUMP00000017981;bK14H9.2 (butyrophilin, subfamily 1, member A1);butyrophilin subfamily 1 member A1 APPROVED protein-coding ENSG00000124557 1135 03365 601610 VALIDATED 1353022 BTN2A1 butyrophilin, subfamily 2, member A1 This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 6 6 6 p22.1 27687469 27699163 + 26566168 26577844 + 26458153 26476849 + 6480464 9382921;17785817;14702039;14574404;12477932;11170752;9149941;22576629;21211798;21468600;17207965;16344560;21347509;21557786;21525964;21784758;21672009;21139048;21890473 11120 C9JNC3;H7BYC3;H7C542;Q96AV7 AB209777;ABBA01066556;AK093886;AK297098;AL050330;AL121936;AMYH01016163;AW007668;BC016661;BX452202;BX538050;CH471087;DB265775;DC341201;DC348937;DC414685;HY157783;NM_001197233;NM_001197234;NM_007049;NM_078476;U90142;U90543;U97495;U97496;U97497 AAB53421;AAC02650;AAC02653;AAC02654;AAH16661;ADQ31707;BAD93014;BAG59611;CAD97989;EAW55577;EAW55578;EAW55579;EAW55580;EAW55581;EAW55582;NP_001184162;NP_001184163;NP_008980;NP_510961;Q7KYR7 Hs.159028 1665142;1687029;1846668;5015861;5037552;7185938 D10S16;D6S1239E;D8S2279;RH26411;RH46612 BK14H9.1;BT2.1;BTF1;DJ3E1.1;FLJ36567 OTTHUMP00000016170;OTTHUMP00000214571;OTTHUMP00000214572;butyrophilin BTF1;butyrophilin subfamily 2 member A1 APPROVED protein-coding ENSG00000112763 1136 12544 613590 REVIEWED 1342660 BTK Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [provided by RefSeq, Nov 2008] X X q21.33-q22 100491098 100527838 - 100604435 100641212 - 1600526;1580863;5131492;6480464;6484113;6907045;7240710 8162018;15380937 8834236;8758136;8723128;8695804;8634718;8630736;8629002;8617237;8594569;8425221;8380905;8283037;8258324;8162056;8125298;8090769;8058772;7972043;7959728;7927535;7925280;7907259;7897635;7880320;7849721;7849697;7849006;7809124;7711734;7633429;7633420;7629518;7627183;7626884;7522330;2881637;1915549;9012831;8892607;12093870;11431473;16640565;10981967;12679936;19471023;8688094;19464057;8013627;19342689;19212330;19206206;19039656;19017959;18809383;18776760;18726917;18548107;18241233;18051214;18029348;18022864;17932028;17765309;17707910;17264076;16951917;16751014;16517732;16439361;16415872;16344560;16300960;16159644;16141323;15939795;15894173;15849198;15772651;15712380;15489334;15466623;15375214;11913944;11577348;15046600;15203319;15184383;15087455;15082835;15007095;14974089;14702039;14634110;14623887;14614850;12970174;12854903;12810683;12769846;12768435;12724322;12573241;12477932;12445832;12437073;12405164;12235133;12204007;12001708;11934902;11920564;11877742;11788586;11751885;11742120;11698416;11668622;11665629;11598012;11527964;11524430;11507089;11438999;11434777;11413148;11373296;11329620;11313464;11231015;11226282;11163197;10872802;10612838;10561498;10556826;10498607;10427990;10373551;10339589;10220140;10201980;10196129;10068673;9837922;9796816;9770463;9751072;9742969;9571151;9545398;9485443;9445504;9333013;9280283;9260159;9218782;9201297;9178903;9110171;9016530;22378381;22623531;21822214;22745667;15355990;16969585;17290227;17823121;19807924;19859091;19904586;19949111;20052711;20056178;21039741;20574453;19913121;20628086;20936779;20634142;20301626;15096481;20715177;21832049;18596081;21422473;21482705;21622861;21659545;19290921;21991724;22053596;21784852;22366891;16964398;18067320;21080425;21988832;22939624;19953087;21890473;21906983;22312945;10826882;22527282;9408950;22589540;19380743;22689860;15539407;23239500 695 Q06187;Q5JY90 ABBA01044974;ABBA01044975;ABBA01044976;ABBA01044977;ABBA01044978;AF153364;AF153755;AF153756;AF153757;AF153758;AF153759;AF153760;AF153761;AF153762;AF153763;AF153764;AJ888376;AJ888377;AJ888378;AJ888380;AJ888381;AK057105;AK225577;AK309851;AK314382;AL035422;AM051275;AM051276;AM051277;AM051278;AM051279;AM051280;AM051281;AM051282;AM051283;AM051284;AM051285;AM051286;AMYH01022725;BC109079;BC109080;CH471115;DA619542;DB636737;L31572;NG_009616;NM_000061;U10087;U13433;U78027;X58957 AAA61479;AAB60639;AAB64205;AAC51347;AAF37332;AAF37333;AAF37334;AAF37335;AAF37336;AAF37337;AAF37338;AAF37339;AAF37340;AAF37341;AAF61477;AAI09080;AAI09081;BAG37008;BAG51864;CAA41728;CAI59836;CAI59837;CAI59839;CAI59840;CAI59842;CAJ19681;CAJ19682;CAJ19683;CAJ19684;CAJ19685;CAJ19686;CAJ19687;CAJ19688;CAJ19689;CAJ19690;CAJ19691;CAJ19692;EAX02856;EAX02857;EAX02858;NP_000052;Q06187 Hs.159494 1655766;1664319;1676150;1678075;1694920;1701868;1702402;1745413;2106451;2154659;2220306;5016482;5117456;7184725 BTK;BTK_4321;DXS178;DXS7424;G44349;GDB:376892;GDB:555566;GDB:555569;GDB:607597;RH35738;RH70553;RH70566;RH80171;RH93533 AGMX1;AT;ATK;BPK;IMD1;MGC126261;MGC126262;PSCTK1;XLA B-cell progenitor kinase;OTTHUMP00000023676;OTTHUMP00000023677;agammaglobulinaemia tyrosine kinase;dominant-negative kinase-deficient Brutons tyrosine kinase;tyrosine-protein kinase BTK;tyrosine-protein kinase BTK isoform (lacking exon 14) APPROVED protein-coding ENSG00000010671 1133 02248 300300;300755;307200 REVIEWED 1343392 BTNL1 butyrophilin-like 1 8114113;10803852 697 1141 6480792 BTNL10 butyrophilin-like 10 1 q42.13 228696347 228699989 - 6480464 100129094 A8MVZ5 ABBA01005838;AL139288;AMYH01001796;CH471098;DY654633;XM_001722031;XM_001722254;XM_003960279 A8MVZ5;EAW69883;XP_001722083;XP_001722306;XP_003960328 Hs.730208 1698098 RH102581 BUTR1 butyrophilin related 1;butyrophilin-like protein 10;similar to hCG2036765 protein-coding 42540 MODEL 1346357 BTN2A3P butyrophilin, subfamily 2, member A3, pseudogene The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27650899 27660096 + 26530326 26539822 + 26421619 26430816 + 1580863 20208008;16344560;14702039;14574404;12477932;11170752 54718 Q96KV6;Q96MJ0 ABBA01066556;AK056871;AK292658;AL021917;AMYH01016163;BC143636;CH471087;DA706324;DB133005;NR_027795 AAI66633;BAB71298;BAF85347;CAC69644;EAW55569;EAW55570;EAW55571;Q96KV6 Hs.729655 2172853;5015961 D15S1477;D6S2365 BTN2A3 APPROVED pseudo ENSG00000124549 13229 12546 613592 VALIDATED 1348046 BTNL4 butyrophilin-like 4 444889 17413 1345080 BTNL5 butyrophilin-like 5 444890 17414 1344541 BTNL6 butyrophilin-like 6 444891 17415 1347001 BTNL7 butyrophilin-like 7 444892 19413 1315891 BTN2A2 butyrophilin, subfamily 2, member A2 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 6 p22.1 27612635 27624383 + 26491333 26503081 + 26383324 26395102 + 6480464 15489334;14702039;14574404;12477932;12124930;11170752;10354554;9149941;19571809;15342556;21906983 10385 C9IY66;C9IZY2;C9J8J5;C9J8R3;C9JAJ6;C9JWH2;F8WC65;H7C4E8;Q8WVV5 ABBA01066555;AK123902;AK289883;AK293526;AK298570;AK304744;AL021917;AL832800;AMYH01016163;BC013258;BC014021;BC017497;BI754184;BP234194;CH471087;DC373063;DC388932;NM_001197237;NM_001197238;NM_001197239;NM_001197240;NM_006995;NM_181531;U90550 AAB53428;AAH14021;AAH17497;BAF82572;BAG57008;BAG60763;BAG65503;EAW55561;EAW55562;EAW55563;EAW55564;EAW55565;NP_001184166;NP_001184167;NP_001184168;NP_001184169;NP_008926;NP_853509;Q8WVV5 Hs.373938 1855129;2126479;2142639 NIB885;RH15843;RH18496 BT2.2;BTF2;FLJ41908 OTTHUMP00000016167;OTTHUMP00000214441;OTTHUMP00000214442;OTTHUMP00000214443;OTTHUMP00000214444;OTTHUMP00000214445;OTTHUMP00000214447;butyrophilin 2;butyrophilin subfamily 2 member A2 APPROVED protein-coding ENSG00000124508 1137 12545 613591 REVIEWED 1350246 BTNL3 butyrophilin-like 3 5 5 5 q35.3 176039572 176057449 + 180348507 180366333 + 180415845 180433727 + 6480464 10429365;12975309;12477932;16344560 10917 Q6UXE8 AB020625;ABBA01010087;AC091874;AK025267;AMYH01015973;AY358385;BC100800;BC100801;BC100802;CH471165;DA431389;NM_197975 AAI00801;AAI00802;AAI00803;AAQ88751;BAA76664;EAW53729;EAW53730;NP_932079;Q6UXE8 Hs.225949 1785324 SHGC-111734 BTNLR OTTHUMP00000221218;butyrophilin-like protein 3;butyrophilin-like receptor protein-coding ENSG00000168903 1143 08393 606192 VALIDATED 1353557 BTNL2 butyrophilin-like 2 (MHC class II associated) 6 6 p21.3 32470491 32482878 - 32362513 32374900 - 6480464;7240710 21410903;19140834;19122664;19116923;19050377;18987644;18836448;17927685;17661910;17610417;17493147;17347014;17237401;17170388;16984233;16690410;16321988;16080124;15735647;15516930;12477932;10803852;20410501;22991420;22751097;22797724;20560297;21326295;20587610;20691797;19143814;19287509;19659809;19851445;19861958;19882345;19915573;19936222;20041166;20176143;20237496;20305777;20378664;20453000;19760754;21072187;20935629;21297633;21256912;23017494;21853121;22071774;21804548;21906983;22936702;23028341;23028483;23321320;23472185 56244 F5H556;F6UPS5;F8W1U8;F8W1V0;F8WBA1;F8WDK6;Q5SU36 ABBA01038110;ABBA01038111;AF186588;AF186590;AF186593;AL034394;AL662796;AL670296;AL935032;AMYH01016238;AY684332;AY684333;AY881999;BC119668;BC127641;BC127642;BX255945;BX908732;CH471081;CR752644;CR753634;CR759773;CR759917;CU019529;NM_019602;Z84814 AAF05530;AAI19669;AAI27642;AAI27643;AAV91022;AAV91023;AAX35330;AAX35331;CAC69895;CAI42177;CAI42180;EAX03627;EAX03628;NP_062548;Q9UIR0 Hs.534471 BTL-II;HSBLMHC1;SS2 OTTHUMP00000194895;OTTHUMP00000215336;butyrophilin-like protein 2 protein-coding ENSG00000204290 1142 12077 606000;612387 PROVISIONAL 1346965 BTN3A1 butyrophilin, subfamily 3, member A1 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p22.1 27631745 27644724 + 26510460 26523421 + 26402465 26415444 + 1580863;6480464 9149941;16344560;15489334;14574404;12477932;11170752;9382921;8125298;16712791;21113407;19571809;20208008;21906983;21918970;21963094;22505724;22767497;22846996 11119 A6PVC0;A8K547;E7EPR2;E9PFB8;Q147X5 AA977088;ABBA01066556;AK223474;AK290193;AK291162;AK295720;AK298652;AK299327;AK311233;AL021917;AMYH01016163;BC065567;BC118586;BC121800;BG744194;BM147268;BM542639;BU178206;BU617041;CA309315;CB148209;CD110416;CH471087;DA044176;DC417480;NM_001145008;NM_001145009;NM_007048;NM_194441;T86577;U90552;Y07827 AAB53430;AAI18587;AAI21801;BAD97194;BAF82882;BAF83851;BAG58563;BAG60824;BAG61334;CAA69164;EAW55566;EAW55567;NP_001138480;NP_001138481;NP_008979;NP_919423;O00481 Hs.191510 1771764;1854871;2145189;2159482;5106902 D6S2363;RH37463;STS-H72375;WI-14381;WI-18313 BT3.1;BTF5;CD277;MGC141880 OTTHUMP00000016163;OTTHUMP00000164619;OTTHUMP00000222000;OTTHUMP00000222001;butyrophilin subfamily 3 member A1;dJ45P21.3 (butyrophilin, subfamily 3, member A1) APPROVED protein-coding ENSG00000026950 1138 10693 613593 VALIDATED 1349027 BTS1 bladder tumor susceptibility 1 619606 9310135 698 1147 1349753 BTN3A3 butyrophilin, subfamily 3, member A3 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010] 6 6 6 p21.3 27669980 27682923 + 26548742 26561622 + 26440700 26453643 + 1580863;6480464 15489334;15340161;14574404;12477932;11170752;10354554;9149941;8125298;20208008;16344560;21906983;22505724 10384 C9J3Q8;C9J877;C9JNZ3;C9JQT8;C9JUV8;C9JVU4;C9JZT5;D0FY33;O00478 AB209581;ABBA01066556;AK223279;AK223301;AK291722;AK301553;AL021917;AMYH01016163;BC015815;BT007251;BX341863;CH471087;DA445999;DC410234;NM_001242803;NM_006994;NM_197974;U90548 AAB53426;AAH15815;AAP35915;ABM83522;ABW03508;BAD92818;BAD96999;BAD97021;BAF84411;BAG63049;EAW55572;EAW55573;EAW55574;EAW55575;EAW55576;NP_001229732;NP_008925;NP_932078;O00478 Hs.167741 1789605;2108711;2109099;2140641;2189675;5106902 BTN3A2_9221;BTN3A3_9097;D6S2231;D6S2361;JA05;WI-14381 BTF3 OTTHUMP00000016166;OTTHUMP00000214539;OTTHUMP00000214557;butyrophilin 3;butyrophilin subfamily 3 member A3 APPROVED protein-coding ENSG00000111801 1140 12548 613595 VALIDATED 1346267 BTN3A2 butyrophilin, subfamily 3, member A2 This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 6 6 6 p22.1 27594686 27607836 + 26473377 26486527 + 26365398 26378548 + 1580863;6480464 19295542;19204726;15489334;14574404;12477932;11170752;9382921;9149941;19571809;12124930;14702039;21906983;21113407;21918970;21963094;22767497;22846996;22966150;22505724;22685580 11118 A8K4B5;E9PIU5;E9PJE9;E9PRR1;E9PRX1;Q76PA0 ABBA01066555;AF257505;AK097330;AK290880;AK299417;AK303600;AK312847;AL021917;AMYH01016163;BC002832;BC020214;BC067086;CD686792;CD705662;CH471087;NM_001197246;NM_001197247;NM_001197248;NM_001197249;NM_007047;U90143;U90144;U90546;U97499;U97502 AAB53424;AAC02651;AAC02652;AAC02655;AAC02656;AAF76140;AAH02832;AAH20214;BAF83569;BAG35700;BAG61399;BAG64615;EAW55557;EAW55558;EAW55559;EAW55560;NP_001184175;NP_001184176;NP_001184177;NP_001184178;NP_008978;P78410 Hs.376046 1721677;1771764;1771790;1775008;2109099;2140608;2140641;5022200;5022651;5037552;5106902 BTN3A2_9221;D11S2921;D6S2361;D6S2366;D8S2279;G59850;L18426;RH15842;WI-14381;WI-18313;WIAF-1460 BT3.2;BT3.3;BTF4;CD277;FLJ40011 OTTHUMP00000016164;OTTHUMP00000016165;OTTHUMP00000195579;OTTHUMP00000232115;butyrophilin protein;butyrophilin subfamily 3 member A2 APPROVED protein-coding ENSG00000186470 1139 12547 613594 REVIEWED 1351143 BTNL8 butyrophilin-like 8 5 5 5 q35.3 175949998 176001633 + 180258735 180310512 + 180326077 180377906 + 6480464 16344560;15340161;14702039;12975309;12477932;8125298 79908 D6R9I8;D6RIR7;F8W712 ABBA01010087;AC022413;AC091874;AK025111;AK225213;AK296597;AK298687;AK308012;AK309639;AMYH01015972;AY358523;BC119696;BC119697;CH471165;DA425770;NM_001040462;NM_001159707;NM_001159708;NM_001159709;NM_001159710;NM_024850 AAI19697;AAQ88887;BAB15069;BAH12395;BAH12847;EAW53732;EAW53733;NP_001035552;NP_001153179;NP_001153180;NP_001153181;NP_001153182;NP_079126;Q6UX41 Hs.189109 1335325;2166457 D5S2006;D5S2724 FLJ21458;FLJ51528;MGC149619 B7-H5 costimulatory molecule;OTTHUMP00000161540;OTTHUMP00000221844;OTTHUMP00000221845;OTTHUMP00000221846;OTTHUMP00000221847;OTTHUMP00000221848;butyrophilin-like protein 8 protein-coding ENSG00000113303 26131 12549 VALIDATED 1353775 BTNL9 butyrophilin-like 9 5 5 5 q35.3 176091046 176116223 + 180399854 180421121 + 180467225 180488523 + 6480464 15489334;14702039;12975309;12477932 153579 A6NJ33;B7Z4Y8;Q6UXG8;Q8N324 ABBA01010089;ABBA01010090;AC008620;AC091874;AK057097;AK298113;AL833663;AMYH01015973;AY358358;BC029040;BC042112;BC062459;CH471165;CQ789638;DC379841;NM_152547 AAH29040;AAH42112;AAH62459;AAQ88724;BAB71365;BAH12724;CAG24379;EAW53724;EAW53725;EAW53726;EAW53727;EAW53728;NP_689760;Q6UXG8 Hs.546502 1728531;1735442;1847962;2133507;2146108;2165881;5037552 D5S1574E;D8S2279;G63703;RH41950;RH46520;SHGC-64030;STS-T47960 BTN3;VDLS1900 OTTHUMP00000082750;OTTHUMP00000082751;butyrophilin 3;butyrophilin-like protein 9 protein-coding ENSG00000165810 24176 12550 VALIDATED 1316316 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008] 15 15 q15 38240530 38300629 + 40453210 40513337 + 1580863;1600540;2326105;2324871;6480464;6907045;7240710 15475955;17242465;18497548 9763420;11285280;10477750;14593737;15504738;11535616;11742988;19154722;19139432;19139399;19117984;18932004;18710370;18699967;18691855;18547097;18440313;18286482;17676298;17498870;17478512;17464181;17376779;17350465;17268814;17210994;16411201;16227576;16144904;15592459;15190214;14706340;14576821;12477932;12445743;12419313;12388768;11907259;11792804;11782350;11702782;11283619;11274370;19015317;11256614;11129339;11030144;10749118;10593653;10366450;21472690;21937719;9914370;9889005;9660858;9618306;9521327;12196507;15388328;15525512;20516114;20189264;20459534;16449973;20146332;12925705;16760428;17227893;17363900;17443186;17981135;18997788;19074885;19407811;19411850;19465021;19468067;19503101;19550118;19603021;19745606;19789190;19926498;20132214;20204288;20453000;9482735;21199919;21389084;21550059;22863883;23079597;20220147;21407176;21988832;23007861;17598981;19098431;20237434;20512932;21525009;21069850;19820702;20360068;20733051;21139048;21890473;21906983;22000412;22048964;22118674;22193957;20231385;22167194;22100920;21926987;18654987;17360335;18591651;21335556;21336306;22374677;22698286;22566641;22801780;23091007;23160376;23239745;23392733;23455478 701 H0YMK5;H0YN44;Q59HH6 AB208782;ABBA01038457;ABBA01038458;AC025429;AF035933;AF046079;AF046918;AF053306;AF068760;AF107297;AF310214;AF441125;AI742619;AK296795;AK296984;AK312709;AL597325;AMYH01006558;BC018739;CH471125;NG_016338;NM_001211 AAC06260;AAC12730;AAC19118;AAC23736;AAC33435;AAD11941;AAH18739;AAL10712;ADZ15521;BAD92019;BAG35587;BAG59371;BAG59525;EAW92394;NP_001202;O60566 Hs.513645 2171962 RH46590 BUB1beta;BUBR1;Bub1A;MAD3L;MVA1;SSK1;hBUBR1 MAD3/BUB1-related protein kinase;OTTHUMP00000160319;budding uninhibited by benzimidazoles 1 homolog beta;mitotic checkpoint kinase MAD3L;mitotic checkpoint serine/threonine-protein kinase BUB1 beta APPROVED protein-coding ENSG00000156970 1149 04176 114500;176430;257300;602860 REVIEWED 1606207 BUD13 BUD13 homolog (S. cerevisiae) 11 11 11 q23.3 113774294 113799111 - 116124099 116148914 - 116618886 116643714 - 6480464 19010793;18193046;18193044;16344560;15302935;12477932;8889548;8125298;19656773;20442857;20838585;20864672;21160409;20571754;21386085;22365833;23505323;21182205;22437554;15565172;20360068;21729881;21909109 84811 H7C462;Q9BRD0 ABBA01039748;AK057832;AK130600;AK225164;AK289635;AK291111;AK311068;AMYH01004054;AP006216;BC006350;BU731866;CA432582;CH471065;DA042987;NM_001159736;NM_032725 AAH06350;ABM83689;ABM86992;BAB71593;BAF82324;BAF83800;EAW67265;EAW67266;NP_001153208;NP_116114;Q9BRD0 Hs.437341 1644255;1799122;1800044;1802170;1806398;1818486;1818928;1819100;1822632;1822780;1825034;1825116;1829756;1832110;1838136;1840100;1841252;1845566;2004504;2004506;2004508;2004510;2004512;2004514;2004516;2004518;2004520;2004522;2004524;2004526;2004528;2004530;2004532;2004534;2004536;2004538;2004540;2004542;2004544;2004546;2004548;2004550;2004552;2004554;2004556;2004558;2004560;2004562;2004564;2004566;2004568;2004570;2004572;2004574;2004576;2004578;2004580;2004582;2004584;2004586;2004588;2004590;2004592;2004594;2004596;2004598;2004600;2004602;2004604;2004606;2004608;2004610;2004612;2004614;2004616;2004618;2004620;2004622;2004624;2004626;2004628;2004630;2004632;2004634;2004636;2004638;2004640;2004642;2004644;2004646;2004648;2004650;2004652;2004654;2004656;2004658;2004660;2004662;2004664;2004666;2004668;2004670;2004672;2004674;2004676;2004678;2004680;2004682;2004684;2004686;2004688;2004690;2096850;2096852;2096854;2096856;2096858;2096860;2096862;2096864;2096866;2096868;2096870;2096872;2096874;2096876;2096878;2096880;2096882;2096884;2096886;2096888;2096890;2127449;5093972 A009Z45;ECD00407;ECD00877;ECD01967;ECD04155;ECD10304;ECD10528;ECD10616;ECD12404;ECD12478;ECD13616;ECD13659;ECD16010;ECD17193;ECD20240;ECD21234;ECD21822;ECD24001;G33031;REN73164;REN73165;REN73166;REN73167;REN73168;REN73169;REN73170;REN73171;REN73172;REN73173;REN73174;REN73175;REN73176;REN73177;REN73178;REN73179;REN73180;REN73181;REN73182;REN73183;REN73184;REN73185;REN73186;REN73187;REN73188;REN73189;REN73190;REN73191;REN73192;REN73193;REN73194;REN73195;REN73196;REN73197;REN73198;REN73199;REN73200;REN73201;REN73202;REN73203;REN73204;REN73205;REN73206;REN73207;REN73208;REN73209;REN73210;REN73211;REN73212;REN73213;REN73214;REN73215;REN73216;REN73217;REN73218;REN73219;REN73220;REN73221;REN73222;REN73223;REN73224;REN73225;REN73226;REN73227;REN73228;REN73229;REN73230;REN73231;REN73232;REN73233;REN73234;REN73235;REN73236;REN73237;REN73238;REN73239;REN73240;REN73241;REN73242;REN73243;REN73244;REN73245;REN73246;REN73247;REN73248;REN73249;REN73250;REN73251;REN73252;REN73253;REN73254;REN73255;REN73256;REN73257;WI-18293;stSG601742;stSG601743;stSG601744;stSG601745;stSG601746;stSG601747;stSG601748;stSG601749;stSG601750;stSG601751;stSG601752;stSG601753;stSG601754;stSG601755;stSG601756;stSG601757;stSG601758;stSG601759;stSG601760;stSG601761;stSG601762 Cwc26;FLJ27090;MGC13125;fSAP71 BUD13 homolog;OTTHUMP00000042639;OTTHUMP00000042640;functional spliceosome-associated protein 71 protein-coding ENSG00000137656 28199 11307 VALIDATED 1353106 BVES-AS1 BVES antisense RNA 1 6 6 q21 106207712 106239953 + 105585562 105617820 + 14574404;17974005;21654844 154442 Q5T3Y7 ABBA01014398;ABBA01014399;AL137368;AL356775;AL359709;AMYH01016559;NR_037157 Q5T3Y7 Hs.586271 1674928;1688490;1786058;2159781 RH46697;RH93144;SHGC-155565;WI-15170 C6orf112;DKFZp434F2226;bA99L11.2 chromosome 6 open reading frame 112 APPROVED miscrna ENSG00000203808 21223 VALIDATED 1347250 BVR1 Burkitt lymphoma variant rearranging region 1 700 M16601 1153 1323304 BUB1 BUB1 mitotic checkpoint serine/threonine kinase This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 2 2 q14 111111881 111152135 - 111395409 111435684 - 1600539;1580863;6480464;6907045 9521327 17488820;11999574;22660415;9790499;9660858;19487456;19252416;19242126;19182530;19141287;19015261;18995837;18922873;18791270;18547097;18383837;18036341;17925231;17620410;17617734;17388661;17210994;17158872;16760428;16525682;16449967;16189514;16046481;15933723;15931389;15818396;15723797;15604152;15525512;15489334;15342556;15013707;14702039;12782591;12655561;12477932;12419313;12375025;12096343;11792804;11782350;11352911;11283619;11134360;10969775;10366450;10198256;9914370;9441741;8125298;15388328;21199919;15020684;17227893;17981135;18029348;19465021;20468071;20929775;20660191;20628624;20643875;20220147;21963094;21988832;21646403;22099307;20360068;21092550;22318606;20309963;21139048;22071147;20231385;23383610;22505724 699 C9IYH4;C9JQA4;C9JRC7;E9PC26;F5GXI5;O43683 ABBA01001561;AC114776;AC226101;AF011387;AF043294;AF046078;AF047471;AF053305;AF139363;AF264055;AI635394;AK023540;AK225317;AK291221;AK302418;AMYH01010925;BC017038;BC028201;BP313176;CH471237;DB453210;HC250947;HC311136;NG_012048;NM_001278616;NM_001278617;NM_004336 AAB97855;AAC03122;AAC06259;AAC12729;AAC39546;AAD43675;AAH17038;AAH28201;AAK29549;AAY14706;ADZ15937;BAF83910;BAG63724;CBJ05771;CBJ21223;EAW50355;NP_001265545;NP_001265546;NP_004327;O43683 Hs.469649 1299936;2107901;2116695;2158007 151XD12;AFMa037yb9;BUB1_8234;D2S1888 BUB1A;BUB1L;hBUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog;OTTHUMP00000204238;OTTHUMP00000204239;budding uninhibited by benzimidazoles 1 homolog;mitotic checkpoint serine/threonine-protein kinase BUB1;mitotic spindle checkpoint kinase;putative serine/threonine-protein kinase APPROVED protein-coding ENSG00000169679 1148 03907 602452 REVIEWED 1347748 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012] 10 10 q24.32 103103815 103307060 + 103113790 103317078 + 1580863;2293188;5510026;6480464;6907045 18432252;20635334 9859996;12791267;9990853;9660940;12820959;15469984;19372209;19240121;19150432;19106159;19061640;18650423;18460583;18378770;18372914;18354483;18354482;18316598;18052253;17965458;17491012;17387146;17319651;17295679;17217622;17053147;16757476;16705181;16691619;16651270;16371461;16303288;16189514;16165251;15927956;15917222;15735746;15489334;15340078;15070733;14988407;14676825;14603323;14561767;14526201;12902344;12482991;12477932;12151397;12124804;12114015;12077367;12037680;11994270;11850407;11818547;11696595;11359933;11278695;10983987;10918611;22590978;10835356;10828603;10803460;10713156;10644755;10564661;16385451;16885021;16885022;17327410;17500058;17510365;18521620;19478868;10531035;10514424;10331953;10228155;10072378;9990852;8889548;16354571;17121803;18296647;18617892;18765672;12609982;11158290;14743216;15782160;22751928;22454292;19515779;19557001;19615732;19797085;19822658;19931512;20048001;20102634;20378537;20379614;11483504;21138764;20503246;14516475;15485837;21070969;14673179;15448698;16219772;16798748;16865698;19297328;19966869;20625400;20852628;20516151;15647282;15798217;15855639;15966899;20844743;15140882;15314162;20736409;19411070;20140206;20708156;14681206;21051950;23115237;23297342;11238952;21310048;10066435;10514433;17445772;21454620;10075690;21430439;23071779;10074433;16196087;18056411;19196987;19656241;20068069;20442859;21521785;21807946;11001584;19240029;19933270;20353940;22017877;22017875;22017876;17318178;19955572;20558726;20797629;21173164;21249194;21402774;21900206;21946088;21987572;22022389;16344560;21139048;23453757;23455922;23530064;23532963;23563313;23583392;23607312;23737552;17463251;17939994;18662541;21572392;21988832;22078877;22682247;22939624;23440515;22045853;12417018;12684064;14706645;14752276;15743413;16278670;16778892;17079684;17215248;17676996;19159283;19477924;19647520;20348946;20531388;20638939;20858893;21910689;22388891;22586265;22669845;22692215;22087322;15845771;22514278;10023660;14674748;17283138;22034227;22711876;22730322;11027288;16275325;16338364;17213322;18575781;18794143;18851830;19053519;21145461;21189257;22090097;22350919;22912335;12504025;21466614;22851693;11953428;17586316;17937819;18363964;18541215;18672082;19244337;19730691;19944437;20201792;20980512;22190034;22975506;23027877;23056346 8945 B2R8L3;B7Z3H4;Q5T1W7;Q68DS0;Q9Y297 AA824369;ABBA01063193;ABBA01063194;ABBA01063195;ABBA01063196;ABBA01063197;ABBA01063198;ABBA01063199;AF101784;AF129530;AK295870;AK313353;AK313417;AK314880;AL133387;AL445463;AL627424;AL707686;AL833133;AMYH01003005;AMYH01003006;AMYH01003007;AMYH01003008;AY207475;AY207476;BC006204;BC027994;BC063673;BM680713;BQ188694;BX389753;CH471066;CR749295;DA218668;GU727631;NG_009234;NM_001256856;NM_003939;NM_033637;Y14153 AAD08702;AAF04464;AAH27994;AAO59171;AAO59172;ADU87633;ADZ15431;BAG36155;BAG36210;BAG37395;BAH12210;CAA74572;CAH18150;EAW49770;EAW49771;EAW49772;EAW49773;EAW49774;NP_001243785;NP_003930;NP_378663;Q9Y297 Hs.643802 1732689;2106965;2114541;2127482;2151481;2177433 BTRC_7931;D10S1167;D10S1239;D10S1240;WI-16946;WIAF-1661 BETA-TRCP;FBW1A;FBXW1;FBXW1A;FWD1;MGC4643;bTrCP;bTrCP1;betaTrCP E3RSIkappaB;F-box and WD repeats protein beta-TrCP;F-box and WD-repeat protein 1B;F-box/WD repeat-containing protein 1A;OTTHUMP00000020314;OTTHUMP00000020315;beta-TrCP1;epididymis tissue protein Li 2a;pIkappaBalpha-E3 receptor subunit APPROVED protein-coding ENSG00000166167 1144 04596 603482 REVIEWED 1315390 BUB3 BUB3 mitotic checkpoint protein This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 10 10 q26 124903860 124914871 + 124913760 124924886 + 1580863;6480464;6907045 11283619;11285280;9660858;14593737;11535616;11742988;18029348;19182530;18199686;17289665;17268814;15796961;15635413;15489334;15388328;15342556;15302935;12762840;12477932;12242018;12217960;12011073;11129339;10828586;10366450;11352911;12419313;15525512;11702782;21145461;22000412;10198256;19615732;20734064;16055720;22863883;21937719;17332742;21110914;21926987;18781797;21987572;22193957;21139048;21890473;21906983;21907836;21963094;19322201;21628590;22939629;16760428;21525009;22100920;12549820;18729074;21853274;22053931;22505724 9184 B4DDM6;J3QSX4;J3QT28;O43684 ABBA01062836;AC012391;AF047472;AF047473;AF053304;AF081496;AK293255;AK307958;AK312546;AMYH01003146;BC005138;BC022438;BM989334;BP328027;BU932619;BX647392;CH471066;NM_001007793;NM_004725 AAC06258;AAC28438;AAC28439;AAC36307;AAH05138;AAH22438;ABM82778;ABM85968;BAG35444;BAG56787;EAW49284;EAW49285;EAW49286;EAW49287;NP_001007794;NP_004716;O43684 Hs.418533 2138716;2150048;5017467 RH78800;SHGC-64047;UniSTS:502432 BUB3L;hBUB3 BUB3 budding uninhibited by benzimidazoles 3 homolog;OTTHUMP00000020679;OTTHUMP00000020680;OTTHUMP00000020682;budding uninhibited by benomyl;budding uninhibited by benzimidazoles 3 homolog;mitotic checkpoint component;mitotic checkpoint protein BUB3 APPROVED protein-coding ENSG00000154473 1151 04761 603719 REVIEWED 2301778 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 3 3 3 q26.31 170540576 170543554 - 173625780 173627571 - 172141985 172144968 - 391592 ABBA01058652;ABBA01058653;AC069523;AMYH01013652;NG_008827 1689077 RH65648 pseudo 31378 INFERRED 1604400 BUD31 BUD31 homolog (S. cerevisiae) 7 7 7 q22.1 93740801 93751440 + 98844548 98855175 + 99006601 99017239 + 6480464;6907045 7841202;15489334;12853948;12690205;12477932;21832049;22939629;21628590;21139048;21906983;22944692 8896 C9JCD9;C9JNV2;F8WCN7;P41223 AACC02000084;ABBA01013263;AC004922;AK297784;AK316477;AMYH01017721;BC022821;BC104670;CH236956;CH471091;CR456951;NM_003910;S77329;U11861 AAA20008;AAB33291;AAH22821;AAI04671;BAH12665;BAH14848;CAG33232;EAL23881;EAW76670;EAW76671;EAW76672;EAW76673;NP_003901;P41223 Hs.380233 1693582 SHGC-58489 Cwc14;EDG-2;EDG2;G10;MGC111202;YCR063W;fSAP17 G10 maternal transcript homolog;OTTHUMP00000206247;OTTHUMP00000206248;OTTHUMP00000206249;OTTHUMP00000206250;functional spliceosome-associated protein 17;maternal G10 transcript;protein BUD31 homolog;protein EDG-2;protein G10 homolog protein-coding ENSG00000106245 29629 10351 603477 VALIDATED 2298828 BZW1P2 basic leucine zipper and W2 domains 1 pseudogene 2 3 3 3 q13.31 114771072 114773381 - 117845406 117859656 - 116363085 116365571 - 16641997 151579 ABBA01061611;AC108687;AMYH01013409;NG_022890 1673874;1676342;1685742;1728871 G15932;G54452;RH25246;RH67925 BZW1L1 APPROVED pseudo 33954 INFERRED 1344210 BVES blood vessel epicardial substance This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 6 6 6 q21 106167189 106206693 - 105651390 105691236 - 105544697 105585049 - 1302855;1580863;6480464 10882522 10441744;18391951;18349282;15489334;12477932;22354168;20546612;16188940;19448622;17207965;20627872;21069264;21283798;21911938;22109561 11149 Q8NE79 ABBA01014399;ABBA01014400;AF204172;AK289979;AL356775;AMYH01016559;BC034425;BC040502;CH471051;NM_001199563;NM_007073;NM_147147;Z95329 AAG23405;AAH34425;AAH40502;ADQ32332;BAF82668;EAW48430;EAW48431;EAW48432;NP_001186492;NP_009004;NP_671488;Q8NE79 Hs.221660 1650344;2150474;5015881;5016781;5022651;5037552 AFMA125XC1;D11S2921;D6S1121E;D8S2279;GDB:335751;SHGC-67307 HBVES;MGC42413;POP1;POPDC1 OTTHUMP00000016910;OTTHUMP00000016911;OTTHUMP00000242208;blood vessel epicardial substance;popeye domain containing 1;popeye domain-containing protein 1;popeye protein 1 APPROVED protein-coding ENSG00000112276 1152 06842 604577 REVIEWED 1353488 C10orf102 chromosome 10 open reading frame 102 q22.2 414244 AC022400 RP11-574K11.12 chromosome 10 open reading frame 102 protein-coding 31431 6770613 BZRAP1-AS1 BZRAP1 antisense RNA 1 17 56402811 56431088 + 12477932;14702039 100506779 ABBA01041333;ABBA01041334;AC004687;AI056234;AK000271;AK090885;AK311208;AK311306;AK311311;AMYH01008512;AV732878;BC032475;BC050403;BC064565;BI820069;NR_038410;NR_038411;NR_038412;NR_038413;NR_038414;NR_038415;NR_038416;NR_038417;NR_038418 Hs.718477 1661589;1665695;1672042;1682421;1693448;1767703;1777933;2176709;2187152 D17S1419E;G42387;RH35987;RH45569;RH68148;RH70634;RH93017;STS-H72889;WI-11652 APPROVED miscrna ENSG00000265148 44148 VALIDATED 1353258 C10orf106 chromosome 10 open reading frame 106 414246 31433 1346920 BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 17 17 17 q22-q23 52840368 52867932 - 53733591 53760477 - 56378588 56406152 - 1302420;1580863;6480464 9915832 17855024;22745667;15489334;12477932;9734811;19557195;10737800;21078624 9256 A7E2C5;B2RUT8;B7ZVZ7;J3KSY4;J3KT64;O95153 AB014512;ABBA01041332;ABBA01041333;AC004687;AF039571;AI811889;AMYH01008512;BC031401;BC146852;BC150279;BC171787;BE246483;BF934025;BX648763;CH471109;NM_001261835;NM_004758;NM_024418 AAD11957;AAH31401;AAI46853;AAI50280;AAI71787;BAA31587;EAW94468;EAW94469;NP_001248764;NP_004749;NP_077729;O95153 Hs.112499 2107903 BZRAP1_8916 DKFZp686F02123;KIAA0612;PBR-IP;PRAX-1;PRAX1;RIM-BP1;RIMBP1 PBR-IP;RIMS-binding protein 1;peripheral benzodiazepine receptor-associated protein 1;peripheral benzodiazepine receptor-interacting protein;peripheral-type benzodiazepine receptor-associated protein 1 protein-coding ENSG00000005379 16831 09832 610764 VALIDATED 1315529 C10orf107 chromosome 10 open reading frame 107 10 10 10 q21.2 56689752 56792965 + 63092725 63196107 + 63422719 63526091 + 737633;6480464 12477932 19430483;15489334;20542020;16385451;20379614;17207965;20852445;21045733;21909110;23006423;23251661 219621 H0Y3I3;Q8IVU9 ABBA01019478;ABBA01019479;ABBA01019480;AC022398;AL451049;AMYH01002771;BC041932;CH471083;NM_173554 AAH41932;ADQ32480;EAW54221;EAW54222;EAW54223;EAW54224;NP_775825;Q8IVU9 Hs.673160 1339863;1704054;1708580;1753863 D10S1640;SHGC-108039;SHGC-77852;SHGC-85079 MGC44593;bA63A2.1 OTTHUMP00000019665;hypothetical protein LOC219621;uncharacterized protein C10orf107 protein-coding 28678 12559 VALIDATED 1346064 C10orf105 chromosome 10 open reading frame 105 10 10 10 q22.1 66753897 66780020 - 73141464 73169435 - 73471458 73497581 - 12477932 414152 B1AVV1;Q8TEF2 ABBA01020374;AK074172;AK123442;AL731541;AMYH01002817;BC071608;BF508486;CH471083;NG_008835;NM_001164375;NM_001168390 BAB84998;EAW54433;NP_001157847;NP_001161862;Q8TEF2 Hs.568788 2138594 STS-N39237 FLJ00245 hypothetical protein LOC414152;uncharacterized protein C10orf105 protein-coding ENSG00000214688 20304 VALIDATED 1321229 C10orf11 chromosome 10 open reading frame 11 10 10 10 q22.3 70831521 71605978 + 77212525 77987136 + 77542519 78317130 + 6480464 16964243;14702039;16385451;19844253;20379614;21946350;22180457;23284291;23395477 83938 A6NG64;M0R2H0;Q9H2I8 ABBA01020246;ABBA01020247;ABBA01020248;AC012047;AC012048;AC013286;AC024603;AF267860;AK125328;AL136451;AL607027;AL731568;AMYH01002842;AMYH01002843;CH471083;NM_032024 AAG44729;EAW54585;EAW54586;EAW54587;NP_114413;Q9H2I8 Hs.118161 1335229;1338564;1338924;1645454;1650409;1657303;1664547;1677486;1679896;1701346;1706520;1710770;1718079;1722947;1724857;1724949;1725049;1752621;1757567;1760661;1768185;1774726;1790293;1851620;2113942;2126289;2138147;2145760;2146460;2154070;2155460;7183685;7186028;7186529;7186845 AB056408;AFM206YG1;D10S1699;D10S195;D10S2266;D10S580;D3S3970;G17476;G18060;G28019;G60571;KS701;RH104303;RH118820;RH119191;RH119242;RH122658;RH17561;RH44932;RH65118;RH65409;RH70106;RH80991;RH91322;SGC34457;SHGC-106442;SHGC-144206;SHGC-145029;SHGC-81232;SHGC-84049;STS-N25920 CDA017;OCA5 OTTHUMP00000019889;OTTHUMP00000019890;leucine-rich repeat-containing protein C10orf11 protein-coding ENSG00000148655 23405 12560 614537;615179 PROVISIONAL 1343828 C10orf111 chromosome 10 open reading frame 111 10 10 10 p13 15066016 15067950 - 15177390 15179324 - 15137384 15139318 - 737633 12477932 15489334;15164054 221060 Q8N326 ABBA01034599;AK314131;AL590365;AMYH01002055;BC029034;BC036401;NM_153244 AAH29034;ADZ15789;BAG36821;NP_694976;Q8N326 Hs.567777 5037552 D8S2279 MGC35468;bA455B2.4 OTTHUMP00000019199;hypothetical protein LOC221060;uncharacterized protein C10orf111 protein-coding ENSG00000176236 28582 16572 PREDICTED 1346421 C10orf112 chromosome 10 open reading frame 112 10 10 10 p12.31 19077832 19709527 + 19585919 19820636 + 19605329 20023407 + 19103277;16344560;11329013;19591129;20379614;23747249 340895 B7ZBP3;B7ZBR1;E7EPJ0;H0Y3D6;Q5VYJ5 ABBA01034519;ABBA01034520;ABBA01034521;ABBA01034522;ABBA01034523;AK297683;AL391992;BG192521;DB087413;KC843478;XM_003403619 AGN95661;BAG60043;Q5VYJ5;XP_003403667 Hs.646734 1298189;1335560;1338165;1342292;1650439;1668992;1669486;1680254;1703274;1704480;1728295;1728415;1754203;1755441;1755565;1756727;1764395;2167652;2174430;2179653;5015947;5105665 D10S1125;D10S1423;D10S1574;D10S2336;D10S2474;D10S466;D10S518;ECD22897;G10494;G15902;G17464;G63429;G63642;RH92837;SHGC-132236;SHGC-142269;SHGC-142311;SHGC-142420;SHGC-143838;SHGC-147985;SHGC-68251;SHGC-82987 DIET1;FLJ60310;bA265G8.2 MAM and LDL-receptor class A domain-containing protein C10orf112;MAM and LDL-receptor class A domain-containing protein C10orf112-like;OTTHUMP00000209453;novel MAM domain containing protein protein-coding 24331 MODEL 1352999 BYSL bystin-like Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008] 6 6 p21.1 41996943 42008762 + 41888965 41900784 + 1580863;2316201;6480464 15305856 9560222;17917702;17381424;17081983;15489334;14633596;12477932;10026108;9925933;16189514;18029348;21048031;16713569;19820697;19862010;20805244;23184937;21832049;22939629;22863883;22586326;21139048;21693764;21890473;21906983;19471022;21145461;19738201;21963094;23263863;17360433;22505724;22797925 705 F8WBL2;H7BY94;Q13895 ABBA01050744;ABBA01050745;AK314147;AL160163;AMYH01016298;BC007340;BC050645;BC062627;CH471081;L36720;NM_004053 AAC16603;AAH07340;AAH50645;AAH62627;ABM83840;ABM87162;EAX04069;NP_004044;Q13895 Hs.106880 1795452;2183548 BYSL_1485;RH15844 BYSTIN OTTHUMP00000016385;by the ribosomal protein s6 gene, drosophila, homolog-like;bystin APPROVED protein-coding ENSG00000112578 1157 04848 603871 REVIEWED 1351499 C10orf115 chromosome 10 open reading frame 115 10 10 p12.2 23532751 23568721 - 23492745 23512728 - 15164054;8889548 387642 Q5QP74 BM976076;CH471072;NR_103721;XR_040091;XR_040092 EAW86130;Q5QP74 1731357 D10S410 bA215C7.4 miscrna 31449 PREDICTED 1347888 BZW1 basic leucine zipper and W2 domains 1 2 2 2 q33 195431568 195443290 + 201384892 201396805 + 201676269 201688569 + 1302740;6480464 11524015 17353931;10942595;17081983;16964243;21319273;15815621;15489334;14702039;12477932;10964520;8125298;7584028;7584026;11101529;19446954;22863883;22939629;21734401;18781797;21139048;21890473;21906983;18654987;22505724 9689 C9IZ80;C9J188;C9JFN4;C9JV57;C9JWF5;H0Y503;Q3LIC9;Q7L1Q6 AA868237;AB074176;ABBA01062521;AC007163;AK096489;AK223245;AK297227;AK301511;AL833518;AMYH01011400;BC001804;BC026303;CB055242;CH471063;D13630;DC386317;DC409063;NM_001207067;NM_001207068;NM_001207069;NM_014670;Z70221 AAH01804;AAH26303;AAX93286;ABM84154;ABM87556;BAA02795;BAD96965;BAE45739;BAG53303;BAG59710;BAG63019;CAA94180;EAW70212;EAW70213;NP_001193996;NP_001193997;NP_001193998;NP_055485;Q7L1Q6 Hs.355983;Hs.736074 1673874;1676342;1685742;1689077;1693748;1728871;5125439 G15932;G54452;RH25246;RH65648;RH67925;SHGC-58821;SHGC-77255 BZAP45;KIAA0005;Nbla10236 OTTHUMP00000206080;OTTHUMP00000206082;OTTHUMP00000206083;OTTHUMP00000206084;OTTHUMP00000206086;basic leucine zipper and W2 domain-containing protein 1;basic leucine-zipper protein BZAP45;protein Orf;putative protein product of Nbla10236 protein-coding ENSG00000082153 18380 16570 VALIDATED 1352536 C10orf10 chromosome 10 open reading frame 10 The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41474883 41477504 - 44791715 44794336 - 45471709 45474330 - 6480464 11256614;16713569;16381901;16344560;16189514;16123073;15977181;15489336;15489334;15164054;14702039;12477932;11230166;11076863;19937567;16385451;20822508;20877624;21510935 11067 Q9NTK1 AB022718;AB025244;ABBA01050023;AK002191;AK098476;AK300839;AK312496;AL136653;AL353801;AMYH01002298;BC011402;CH471160;DB030770;NM_007021 AAH11402;ABM82987;ABM86180;BAA74504;BAC87794;BAG35398;BAG51027;BAG62490;CAB66588;CAL38369;EAW86629;NP_008952;Q9NTK1 Hs.93675 1736028;2119900 A002O19;D10S1304E DEPP;FIG OTTHUMP00000019496;OTTHUMP00000019497;decidual protein induced by progesterone;fasting induced;fasting-induced gene protein;fasting-induced protein;protein DEPP APPROVED protein-coding ENSG00000165507 23355 12558 611309 REVIEWED 1606384 C10orf113 chromosome 10 open reading frame 113 10 10 10 p12.31 21101350 21122146 - 21454698 21475433 - 21414692 21435488 - 15164054;12477932;23535730 387638 Q5VZT2 ABBA01034505;AI806552;AL158160;AMYH01002168;BC140744;BC144447;NG_017092;NM_001010896;NM_001177483 AAI40745;NP_001010896;NP_001170954;Q5VZT2 Hs.664110 5113034 RH66460 bA165O3.1 OTTHUMP00000019267;OTTHUMP00000235929;putative uncharacterized protein C10orf113 protein-coding ENSG00000204683 31447 16573 VALIDATED 1345714 C10orf124 chromosome 10 open reading frame 124 q26.3 440012 AL691429 CAI17262 bB137A17.2 protein-coding 31655 1343385 C10orf123 chromosome 10 open reading frame 123 q26.3 414258 AL392043;AL691429 CAI39951 bA288G11.5 protein-coding 31654 731291 BZW2 basic leucine zipper and W2 domains 2 7 7 7 p21.1 16665515 16725894 + 16652284 16712672 + 16685759 16746148 + 6480464 17353931;17081983;15635413;15489334;14702039;12853948;12690205;12477932;11042152;19322201;19913121;20628086;20379614;19454010;22863883;23383273;21745818;21900206;18781797;21139048;21890473;21906983;19738201;21963094;22053931;23000965;23535033 28969 B5MCE7;B5MCH7;C9JF98;E7EMS9;E7ETZ4;E9PFD4;F8WDX8;Q75MG1;Q9Y6E2 AACC02000008;ABBA01056632;ABBA01056633;ABBA01056634;AC073201;AC073333;AF083246;AF110323;AK001218;AK001260;AK027837;AK297496;AK300655;AMYH01017092;BC001570;BC003056;BC008453;BC009597;BC017794;BC051898;BC107757;CH236948;CH471073;NM_001159767;NM_014038;NR_027624 AAD39844;AAG39278;AAH03056;AAH08453;AAH09597;AAH17794;AAI07758;AAS07544;ABM83422;ABM86634;BAA91562;BAB55401;BAG50880;BAH12594;BAH13321;EAL24285;EAW93675;EAW93676;EAW93677;EAW93678;EAW93679;NP_001153239;NP_054757;Q9Y6E2 Hs.487635 1670628;2110287;2123838;2153596;2176495 BZW2_9566;D7S1766;GDB:1318220;RH36275;SHGC-55976 HSPC028;MST017;MSTP017 OTTHUMP00000161321;OTTHUMP00000201712;OTTHUMP00000201748;OTTHUMP00000201749;basic leucine zipper and W2 domain-containing protein 2;hfb2 protein protein-coding ENSG00000136261 18808 16571 VALIDATED 1346015 C10orf131 chromosome 10 open reading frame 131 10 10 10 q24.1 91408931 91439619 + 97657712 97688040 + 97667722 97698415 + 15164054 100127889 A6NCD4;R4GN90 ABBA01021833;AK294399;AL365273;AL513355;AMYH01002968;NM_001130446 A6NCD4;BAG57652;NP_001123918 Hs.719076 2170211 SHGC-30780 FLJ10895;bA690P14.3 hypothetical protein LOC100127889;uncharacterized protein C10orf131 protein-coding ENSG00000173088 31667 PREDICTED 1344407 C10orf128 chromosome 10 open reading frame 128 10 10 10 q11.23 43949478 43982598 - 50033896 50066413 - 50363890 50396407 - 737633;6480464 12477932 170371 G3V182;Q5T290;Q5T292 ABBA01041074;ABBA01041075;AC084727;AL441885;AL832399;AMYH01002642;BC031641;BC037922;BC042857;BC047724;BC104438;BC104439;CH471187;DQ884399;NM_001010863 ABI63366;EAW93107;EAW93108;EAW93110;NP_001010863;Q5T292 Hs.385493 1689430;1709444;1765471;2147366 RH93539;SHGC-148957;SHGC-81764;STS-AA041552 OTTHUMP00000019573;OTTHUMP00000019574;OTTHUMP00000019575;putative uncharacterized protein C10orf128 protein-coding 27274 PREDICTED 1354019 C10orf133 chromosome 10 open reading frame 133 414267 31669 1352264 C10orf138 chromosome 10 open reading frame 138 414234 30374 1351198 C10orf14 chromosome 10 open reading frame 14 15164054 414171 23430 1316183 C10orf118 chromosome 10 open reading frame 118 10 10 10 q25.3 109611151 109663535 - 115871964 115924354 - 115881974 115934364 - 737633;1299549;6480464 12477932;12783626 14996095;16381901;15489336;15489334;14702039;11230166;11076863;20936779;21900206;21139048;21906983 55088 F6VCB7;H0Y7V5;Q9NWA3 ABBA01062982;AC022023;AF273054;AI143965;AK001050;AK024739;AK057508;AK092620;AK094498;AK307517;AL834368;AMYH01003086;BC020842;BC022229;BC030557;BC070368;BC100670;BC103499;BC103504;BC105632;BC107430;BC152306;BK001329;BX537964;BX643041;NM_018017 AAH20842;AAH22229;AAH70368;AAI00671;AAI03500;AAI05633;AAI07431;AAI52307;AAM44457;BAA91480;BAC03926;BAG51924;CAD39031;CAD97928;CAL37501;DAA01463;NP_060487;Q7Z3E2 Hs.159066;Hs.603328 FLJ10188;FLJ35301;MGC118918;MGC129699 CTCL tumor antigen HD-CL-01/L14-2;CTCL tumor antigen L14-2;OTTHUMP00000020520;OTTHUMP00000020523;uncharacterized protein C10orf118 protein-coding 24349 16576 VALIDATED 1349358 C10orf31 chromosome 10 open reading frame 31 10 11398298 11401853 - 414196 Q8N7Q2 AK097813 23515 1344514 C10orf129 chromosome 10 open reading frame 129 10 10 10 q23.33 90695101 90729842 + 96943947 96976152 + 96953957 96988686 + 12477932;16385451 142827 H7BXS6;H7BYZ2;Q6P461 ABBA01021840;AK126134;AL157834;AMYH01002967;BC063654;BC104210;BC104211;BC112988;BC148184;CH471066;NM_207321 AAH63654;AAI04211;AAI04212;AAI12989;BAC86458;EAW50014;NP_997204;Q6P461 Hs.134229 1721313;1747837;5094310 G54703;G59656;G65756 ACSM6;bA310E22.3 AMP-binding enzyme;OTTHUMP00000020136;acyl-coenzyme A synthetase ACSM6, mitochondrial protein-coding ENSG00000173124 31665 12565 VALIDATED 1323299 C10orf12 chromosome 10 open reading frame 12 10 10 10 q24.1 92482640 92487184 + 98731031 98735575 + 98741041 98745585 + 6480464 16189514;15489334;15164054;14702039;12477932;21890473 26148 Q8N655 ABBA01021819;AK023084;AK025166;AK126886;AL049938;AL442123;AMYH01002976;BC024315;BC031482;NM_015652 AAH24315;AAH31482;BAB14396;CAB43214;NP_056467;Q8N655 Hs.14555;Hs.427927 2134778 D10S2419 DKFZp564P1916;FLJ13022 OTTHUMP00000020178;hypothetical protein LOC26148;uncharacterized protein C10orf12 protein-coding ENSG00000155640 23420 12563 PROVISIONAL 1604915 C10orf120 chromosome 10 open reading frame 120 10 10 10 q26.13 118163641 118165754 - 124447215 124449328 - 124457225 124459338 - 15489334;15164054;12477932 399814 H0Y758;Q5SQS8 ABBA01062840;AL704711;AL731543;AMYH01003142;BC065903;BC140922;CH471066;NM_001010912 AAI40923;EAW49307;NP_001010912;Q5SQS8 Hs.363649;Hs.682151 bA318C4.1 OTTHUMP00000020665;OTTHUMP00000020666;hypothetical protein LOC399814;uncharacterized protein C10orf120 protein-coding ENSG00000183559 25707 16577 PREDICTED 1347042 C10orf40 chromosome 10 open reading frame 40 10 10 10 q21.2 54983535 54986224 - 61387982 61389733 - 61717975 61720671 - 737633 12477932 283025 A4QN01 ABBA01019457;AC023904;AMYH01002767;BC038741;BC048976;BC119749;BC119750;NR_024340 A4QN01 Hs.522955 1677782;5493701 RH98450;UniSTS:490443 miscrna ENSG00000235931 23524 VALIDATED 1350474 C10orf43 chromosome 10 open reading frame 43 414155 AL603965 FLJ32754;bA145E20.5 chromosome 10 open reading frame 43 protein-coding 21291 1322314 C10orf137 chromosome 10 open reading frame 137 This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 10 10 10 q26.13 121183516 121228144 + 127398074 127442702 + 127408084 127452712 + 737633;6480464 12477932 15489334;14702039;12609092;21145461;18763094;20379614;18726394;18759052;21900206;21139048;21890473;21906983 26098 E9PJ07;H0Y353;H0YCQ0;H0YCS2;Q3B7T1 ABBA01034169;AF040247;AK025270;AK091507;AK314958;AL050102;AL158835;AMYH01003163;BC016903;BC026172;BC028715;BC029650;BC105929;BC107479;BC107896;CH471066;NM_001202438;NM_015608 AAC00001;AAH26172;AAI05930;AAI07480;BAB15100;BAG37462;CAB43273;EAW49231;EAW49232;EAW49233;EAW49234;EAW49235;EAW49236;NP_001189367;NP_056423;Q3B7T1 Hs.468688 1672310;1672821;1735942;2148064;2148066;2161410 A006E36;D10S2169;D9S1070E;G20749;RH46482;SHGC-58128 EDRF1;MGC125705;RP11-383C5.6 OTTHUMP00000020703;OTTHUMP00000020707;OTTHUMP00000232252;OTTHUMP00000232253;erythroid differentiation-related factor 1 APPROVED protein-coding ENSG00000107938 24640 10694 REVIEWED 7245990 C10orf126 chromosome 10 open reading frame 126 11181995;12477932;15489334 283080 Q8N4M7 ABBA01034371;AL390248;AMYH01002214;BC033839;CH471072;NM_001278522;XR_158861;XR_159192;XR_171845 ABM82201;ABM85389;EAW86026;NP_001265451;Q8N4M7 Hs.591370 bA492M23.1 putative uncharacterized protein C10orf126 protein-coding ENSG00000204365 28693 INFERRED 1348451 C10orf25 chromosome 10 open reading frame 25 10 10 10 q11.21 41496320 41499644 - 44813152 44816342 - 45493146 45496470 - 15164054;14702039;12477932;16344560;16385451 220979 Q5T742 ABBA01050024;AK055129;AK311351;AL353801;AMYH01002298;BC062568;BC130369;BC130395;CH471160;DA772947;DR005042;NM_001039380 AAI30370;AAI30396;ADR82803;BAB70858;EAW86630;EAW86631;NP_001034469;Q5T742 Hs.707791 FLJ18393;FLJ30567 OTTHUMP00000019499;hypothetical protein LOC220979;uncharacterized protein C10orf25 protein-coding ENSG00000165511 23509 VALIDATED 1313704 C10orf35 chromosome 10 open reading frame 35 10 10 10 q22.1 64666901 64670261 + 71060009 71063361 + 71390003 71393355 + 737633;6480464 12477932 16344560;15489334;15164054;11591653;16385451;20379614;17207965;21139048 219738 Q5VVH9;Q96D05 ABBA01019610;AL450311;AMYH01002807;BC013587;BF510821;CH471083;CK903062;DB339258;DB465414;NM_145306 AAH13587;ADQ33141;EAW54330;EAW54332;NP_660349;Q96D05 Hs.522992 1644489 WI-12709 OTTHUMP00000019727;hypothetical protein LOC219738;uncharacterized protein C10orf35 protein-coding ENSG00000171224 23519 12573 VALIDATED 1345709 C10orf53 chromosome 10 open reading frame 53 10 10 10 q11.23 44473742 44502988 + 50557690 50586962 + 50887684 50916956 + 737633 12477932 16344560;15489334;14702039;20379614 282966 Q8N6V4 ABBA01041070;AC069546;AC073366;AK091773;AMYH01002642;AW182169;BC028127;BX102324;CH471187;DB043416;NM_001042427;NM_182554 AAH28127;EAW93083;EAW93084;EAW93085;NP_001035892;NP_872360;Q8N6V4 Hs.131287 FLJ60598 OTTHUMP00000019586;OTTHUMP00000019587;UPF0728 protein C10orf53;hypothetical protein LOC282966 protein-coding 27421 12579 VALIDATED 1348188 C10orf64 chromosome 10 open reading frame 64 10 q11.22 49562927 49614293 + 737633 12477932 18519826;15489334;14702039 159491 AC035139;AC068898;AK093607;AK127650;BC034937;XM_001124973;XM_001124974;XM_001719015 AAH34937;BAC04204;BAC87073;Q6ZS81;Q8N222;XP_001124973;XP_001124974;XP_001719067 Hs.287379 FLJ36288;FLJ45748;MGC40604 protein-coding 27253 12555 1323417 C10orf32 chromosome 10 open reading frame 32 10 10 10 q24.32 98354550 98365297 + 104604009 104613960 + 104613967 104624718 + 6480464 16344560;15489334;15164054;14702039;12477932;7566098;19915575;21139048 119032 Q96B45 AA299084;ABBA01063132;AI147530;AK098071;AK311742;AL358790;AL832477;AMYH01003020;AW058660;BC015994;BP419064;CS300779;DA006534;NM_001136200;NM_144591 AAH15994;BAG34685;BAG53576;CAI46115;CAK32443;NP_001129672;NP_653192;Q96B45 Hs.34492 1690906;2148367;2177243;5015619;5015961;5022200 D10S1565;D11S3114;D15S1477;L18426;RH93016;SHGC-36540 DKFZp686B2219;FLJ40752;MGC27171;RP11-753C18.6 OTTHUMP00000020385;OTTHUMP00000020386;OTTHUMP00000211190;UPF0693 protein C10orf32;hypothetical protein LOC119032 protein-coding ENSG00000166275 23516 12571 VALIDATED 7206953 C10orf71-AS1 C10orf71 antisense RNA 1 10 50504157 50506938 - 100506769 ABBA01041072;AC027674;AMYH01002642;XR_110401;XR_132934;XR_171855 Hs.562293 1675049;2144831 RH41964;SHGC-58001 miscrna ENSG00000236208 45007 MODEL 1350054 C10orf67 chromosome 10 open reading frame 67 10 10 10 p12.2 23293123 23322454 - 23645526 23673778 - 23605520 23633772 - 737633;6480464 12477932 18723019;15489334;15164054 256815 Q5SXQ8;Q8IYJ2 ABBA01034466;ABBA01034467;ABBA01034468;AL592296;AL606469;AMYH01002187;AMYH01002188;BC035732;CH471072;NM_153714 AAH35732;EAW86129;EAW86131;EAW86132;NP_714925;Q8IYJ2 Hs.522360 1848750 G09328 MGC46732;RP11-792P23.2 OTTHUMP00000019310;hypothetical protein LOC256815;uncharacterized protein C10orf67 protein-coding ENSG00000179133 28716 12585 VALIDATED 1348811 C10orf55 chromosome 10 open reading frame 55 10 10 10 q22.2 68953043 68965862 - 75339740 75341994 - 75669727 75682535 - 15489334;15164054;14702039;12477932;21145461;19913121;20628086;23128233 414236 Q5SWW7 ABBA01020301;ABBA01020302;AI912900;AK092517;AL596247;AMYH01002833;BC049374;CH471083;NM_001001791 AAH49374;BAC03908;EAW54546;NP_001001791;Q5SWW7 Hs.585453 1677941;1741587;1793546;5108156;5491394 GDB:181547;PLAU;PMC229370P1;RH92165;SHGC-31374 bA417O11.3 OTTHUMP00000019858;hypothetical protein LOC414236;uncharacterized protein C10orf55 protein-coding ENSG00000222047 31008 16580 VALIDATED 1605963 C10orf54 chromosome 10 open reading frame 54 10 10 10 q22.1 66789752 66815911 - 73177319 73203343 - 73507313 73533337 - 6480464 16189514;15498874;15489334;15340161;15231748;15164054;14702039;12975309;12477932;17207965;20666777;21906983;22424883;22488247 64115 Q9H7M9;R4GNB4 ABBA01020373;ABBA01020374;AF193048;AF289594;AK024449;AL731541;AMYH01002817;AY265805;AY358379;BC020568;BC111048;BC127257;CH471083;EF506490;NG_008835;NM_022153 AAG22476;AAH20568;AAI11049;AAI27258;AAL55778;AAP03084;AAQ88745;ABP88253;ADQ32336;BAB15739;EAW54435;NP_071436;Q9H7M9 Hs.47382 1794772;2127052;2144039 PMC55343P6;STS-R80211;STS-W72919 B7-H5;B7H5;GI24;PP2135;SISP1 OTTHUMP00000019774;platelet receptor Gi24;stress induced secreted protein 1 protein-coding ENSG00000107738 30085 15160 VALIDATED 1351899 C10orf62 chromosome 10 open reading frame 62 10 10 10 q24.2 93086753 93087994 + 99339474 99340681 + 99349450 99350691 + 16381901;16189514;15489336;15489334;15164054;12477932;11076863;19447967;19060904 414157 Q5T681 ABBA01021800;AL355315;AMYH01002978;BC037252;BC043281;BI826342;CH471066;NG_027922;NM_001009997 AAH37252;CAL37434;CAL37673;CAL38043;CAL38061;CAL38381;CAL38664;CAL38665;CAL38667;EAW49915;NP_001009997;Q5T681 Hs.662302 1679025 RH92617 bA548K23.1 OTTHUMP00000020214;hypothetical protein LOC414157;uncharacterized protein C10orf62 protein-coding ENSG00000203942 23294 16581 VALIDATED 1346795 C10orf68 chromosome 10 open reading frame 68 10 10 10 p11.22 32621488 32937125 + 32896657 33211798 + 32856651 33171792 + 18984674;16344560;14702039;12477932;16385451;20379614 79741 A2A3D6;Q9H943 AA401575;ABBA01033378;ABBA01033379;ABBA01033380;ABBA01033381;AK023093;AK097668;AK301824;AL354750;AL355540;AL356053;AL365203;AL591850;AMYH01002223;BC125090;BC125091;CH471072;DB026046;NM_024688 AAI25091;AAI25092;BAB14400;BAC05140;BAG63270;CAC40698;EAW85962;EAW85963;NP_078964;Q9H943 Hs.585464 1669415;1700916;1724935 109YG3;RH104085;RH119234 FLJ13031;MGC149767;RP11-479G22.1;dJ1104A8.1 OTTHUMP00000195173;OTTHUMP00000195174;OTTHUMP00000197723;chromosome 10 open reading frame 68;uncharacterized protein C10orf68 protein-coding ENSG00000150076 25779 10698 VALIDATED 1353451 C10orf71 chromosome 10 open reading frame 71 10 10 10 q11.23 44093353 44121712 + 50177193 50205538 + 50507187 50535537 + 6480464 15164054;14702039;12477932;23362303 118461 Q711Q0;Q9BQV1 ABBA01041072;AC027674;AJ237663;AJ311357;AJ311358;AK056949;AK127811;AL833265;AMYH01002642;BC126413;NM_001135196;NM_199459 AAI26414;ADR83248;BAB71321;BAG54576;CAC33852;CAC85340;CAC85341;NP_001128668;NP_955629;Q711Q0 Hs.585480 1736008 D10S1293E FLJ45913 OTTHUMP00000019577;hypothetical protein LOC118461;uncharacterized protein C10orf71 protein-coding ENSG00000177354 26973 10699 VALIDATED 1352905 C10orf82 chromosome 10 open reading frame 82 10 10 10 q25.3 112152637 112158902 - 118413197 118419471 - 118423207 118429481 - 737633;6480464 12477932 16189514;15489334;14702039;17207965 143379 K7EKP3;Q8WW14 ABBA01062954;AC016825;AK097587;AMYH01003095;BC021737;BX537582;CH471066;HC006798;NM_144661 AAH21737;ADQ32801;BAG53491;CBH19205;EAW49444;EAW49445;EAW49446;NP_653262;Q8WW14 Hs.121347 1681819;1848617;2126524;2173809;5015619;5024039;5037552;5092776 A006D08;D11S3114;D16S325;D8S2279;G32323;RH66653;RH94161;STS-AA026951 FLJ40268;MGC33547 OTTHUMP00000020565;hypothetical protein LOC143379;uncharacterized protein C10orf82 protein-coding ENSG00000165863 28500 12592 PREDICTED 1313900 C10orf76 chromosome 10 open reading frame 76 10 10 10 q24.32 97344794 97556879 - 103595346 103805922 - 103605356 103815932 - 6480464 16344560;14702039;12477932;10737800;16385451;21139048;21906983 79591 B3KUU6;Q5T2E6;Q5T2E7;Q5T2E8 ABBA01063176;ABBA01063177;ABBA01063178;ABBA01063179;ABBA01063180;ABBA01063181;ABBA01063182;ABBA01063183;ABBA01063184;ABBA01063185;ABBA01063186;AC010789;AK023176;AK097972;AK308479;AL391827;AL592069;AMYH01003011;AMYH01003012;AMYH01003013;AW936405;BC032118;BC054882;BC110511;CH471066;DA020448;DA311439;DR002231;DT932690;NM_024541 AAH54882;BAB14447;BAG53558;EAW49727;EAW49728;EAW49729;NP_078817;Q5T2E6 Hs.16004 1666086;1721349;1760821;1846682;1854804;2145754;2152586;2156302;2160774;2176617;2182834;2182836;5037552 A006D27;Bda26a02;D10S2382;D8S2279;G20725;G59674;RH45203;RH46560;SHGC-144456;SHGC-30899;STS-N73831;WI-16761;WI-20224 FLJ13114;MGC125927;RP11-190J1.9 OTTHUMP00000020353;UPF0668 protein C10orf76;hypothetical protein LOC79591 protein-coding ENSG00000120029 25788 12588 VALIDATED 1354177 C10orf91 chromosome 10 open reading frame 91 10 10 10 q26.3 127930059 127933170 + 134108704 134111815 + 134258714 134261825 + 737633;6480464 12477932 15489334;15164054;17207965 170393 Q5T1B1 ABBA01006184;AL451069;AMYH01003209;BC030794;BE909428;CH471287;NM_173541 AAH30794;ADQ32800;EAW49118;EAW49119;NP_775812;Q5T1B1 Hs.375059 RP11-432J24.4;bA432J24.4 OTTHUMP00000020771;hypothetical protein LOC170393;uncharacterized protein C10orf91 protein-coding 27275 12557 VALIDATED 1312790 C10orf88 chromosome 10 open reading frame 88 10 10 10 q26.13 118396884 118420383 - 124680409 124703909 - 124690419 124713919 - 737633;6480464 12477932 15489334;14702039;16169070;17207965;20418485;21832049;18624398;21906983 80007 Q9H8K7 ABBA01062839;AC073585;AK023552;AMYH01003143;BC021705;BC032645;BI821345;CB044034;CH471066;NM_024942 AAH32645;ADQ31756;BAB14609;EAW49297;EAW49298;NP_079218;Q9H8K7 Hs.501286 1698194 RH102633 FLJ13490 OTTHUMP00000020667;hypothetical protein LOC80007;uncharacterized protein C10orf88 protein-coding ENSG00000119965 25822 18531 VALIDATED 1352545 C10orf85 chromosome 10 open reading frame 85 10 10 q26.12 122347711 122348199 + 122357721 122359635 + 14702039;12477932;15489334 404216 Q8N1V8 ABBA01062874;AC023282;AK094721;AMYH01003125;AW013915;BC108662;NR_103717;XR_110462;XR_111110;XR_171871 AAI08663;BAC04408;Q8N1V8 Hs.196578 FLJ37402;MGC131689 miscrna ENSG00000177234 31365 18530 PREDICTED 1348306 C11orf18 chromosome 11 open reading frame 18 11528127 493900 AJ400877 19230 1342639 C10orf99 chromosome 10 open reading frame 99 10 10 10 q23.1 79928477 79940052 + 85923534 85935030 + 85933554 85945050 + 6480464 12975309;12477932 387695 Q6UWK7 ABBA01003758;ABBA01003759;ABBA01003760;ABBA01003761;AC022389;AI831407;AMYH01002890;AW351839;AY358751;BC024215;CH471142;NM_207373 AAQ89111;EAW80365;EAW80366;NP_997256;Q6UWK7 Hs.298713;Hs.499145 1686881;2042242;5023453 REN92160;RH25555;SHGC-32086 FLJ21763;UNQ1833 OTTHUMP00000019995;RLLV1833;putative uncharacterized protein C10orf99 protein-coding ENSG00000188373 31428 12599 VALIDATED 1313898 C10orf90 chromosome 10 open reading frame 90 10 10 10 q26.2 121887866 121984246 - 128103561 128200000 - 128113571 128210010 - 6480464 15489334;15164054;14702039;12477932;20154723;20843368;20844083;16196087;22040499;23319000 118611 F5GZL2;H7C3F8;Q5T024;Q5T025;Q96M02 ABBA01034179;AF435960;AK057500;AK093093;AK297577;AK308357;AK309217;AL583860;AL589787;AL705062;AMYH01003168;BC021140;BC034828;BC140898;BC146869;CH471066;NM_001004298 AAH21140;AAI40899;AAI46870;AAI56059;AAI56942;AAM20911;BAB71512;BAG59968;EAW49200;EAW49201;EAW49202;NP_001004298;Q96M02 Hs.587663 1341134;1696118;1751053;7183993 D10S214;SHGC-104964;SHGC-78951 FATS;FLJ32938;RP11-422P15.2;bA422P15.2 OTTHUMP00000020729;OTTHUMP00000020731;OTTHUMP00000020732;centrosomal protein C10orf90;fragile-site associated tumor suppressor;fragile-site associated tumor suppressor homolog;hypothetical protein LOC118611 protein-coding ENSG00000154493 26563 16587 VALIDATED 1347380 C11orf26 chromosome 11 open reading frame 26 79262 14532 1343186 C11orf29 chromosome 11 open reading frame 29 83960 15666 1349493 C10orf95 chromosome 10 open reading frame 95 10 10 10 q24.32 97950507 97952213 - 104199584 104201290 - 104209594 104211300 - 6480464 15489334;15164054;14702039;12477932 79946 Q9H7T3 ABBA01063154;ABBA01063155;AK024342;AL121928;AMYH01003018;BC126459;CH471066;NM_024886 AAI26460;BAB14892;EAW49692;NP_079162;Q9H7T3 Hs.225084 2152993;5493359 RH48442;UniSTS:485839 FLJ14280 OTTHUMP00000020369;hypothetical protein LOC79946;uncharacterized protein C10orf95 protein-coding ENSG00000120055 25880 10701 PREDICTED 1347494 C10orf93 chromosome 10 open reading frame 93 10 10 10 q26.3 128763297 128776265 + 134592681 134606054 - 134742689 134756089 - 15489334;15164054;14702039;12477932 255352 AA813184;AK098820;AL691429;BC044661;BC146900;BC146908;BX376477;CH471211;DR001134;NM_173572 AAH44661;AAI46901;AAI46909;BAC05424;CAI17263;CAI17264;EAW61310;NP_775843 Hs.375837 1782112 SHGC-155044 RP13-137A17.3;bB137A17.3 OTTHUMP00000020784;hypothetical protein LOC255352;uncharacterized protein LOC255352 protein-coding ENSG00000171811 26382 12597 VALIDATED 1343136 C11orf3 chromosome 11 open reading frame 3 q13 14702039;9615229;9286704 739 AK023941;AK093791 Hs.277517 ANG3 protein-coding 1175 1354141 C11orf21 chromosome 11 open reading frame 21 11 11 11 p15.5 2352383 2358017 - 2275661 2279719 - 2317507 2323143 - 12477932;11054561;23251661 29125 E9PAM5;Q9P2W6 AB029488;ABBA01032096;AC129929;AK290921;AK310172;AMYH01003319;AMYH01003320;BC028070;BI770361;NM_001142946;NR_024621 BAA89482;BAF83610;NP_001136418;Q9P2W6 Hs.559181 1801192;1805476;1806532;1810932;1813240;1828250;1831560;2092576;2092578;2092580;2092582;2092584;2092586;2092588;2092590;2092592;2092594;2092596;2092598;2092600;2092602;2092604;2092606;2092608;2092610;2092612;2092614;2092616;2092618;2092620;2092622;2092624;2092626;2092628;2092630;2092632;2092634;2092636;2092638;2216914;2216916;2216918;5119835 ECD01468;ECD03686;ECD04223;ECD06464;ECD07640;ECD15250;ECD16917;GDB:182522;REN117571;REN117572;REN117573;REN117574;REN117575;REN117576;REN117577;REN117578;REN117579;REN117580;REN117581;REN117582;REN117583;REN117584;REN117585;REN117586;REN117587;REN117588;REN117589;REN117590;REN117591;REN117592;REN117593;REN117594;REN117595;REN117596;REN117597;REN117598;REN117599;REN117600;REN117601;REN117602;stSG548805;stSG548806;stSG548808 OTTHUMP00000011323;OTTHUMP00000196041;hypothetical protein LOC29125;uncharacterized protein C11orf21 protein-coding 13231 611033 PREDICTED 1345294 C11orf1 chromosome 11 open reading frame 1 11 11 11 q23.1 108903165 108908015 + 111255158 111260008 + 111749948 111754798 + 6480464 10873569;15489334;14702039;12477932;16169070;17207965;18029348 64776 E9PLN1;E9PMC1;E9PS33;E9PS93;Q9H5F2 ABBA01039811;AJ250229;AK027152;AMYH01004031;AP001781;BC020628;BC036892;CH471065;CR457378;GN341810;NG_029081;NM_022761 AAH20628;ADQ32215;BAB15674;CAB96538;CAG33659;CAY39324;EAW67160;NP_073598;Q9H5F2 Hs.17546 1774060;2116699;2186627;5014057;5015861;5015961;5016478;5020740;5024756;7185938 A008P41;D10S16;D15S1477;D1S3699;GDB:434012;L17809;RH18234;RH80030;SGC33774 FLJ23499 OTTHUMP00000234273;OTTHUMP00000234274;OTTHUMP00000234275;OTTHUMP00000234276;OTTHUMP00000234277;UPF0686 protein C11orf1;hypothetical protein LOC64776 protein-coding 1163 12601 VALIDATED 1343359 C11orf34 chromosome 11 open reading frame 34 11 11 11 q23.1 109272110 109284574 - 111624732 111636793 - 112118876 112131583 - 18195351;15203209 349633 H0YDD0;Q6UQ28 ABBA01039797;ABBA01039798;ABBA01039799;ABBA01039800;AMYH01004035;AP002884;AY364431;AY364432;AY364433;AY364434;AY364435;NM_001145024 AAQ72434;AAQ72435;AAQ72436;AAQ72437;AAQ72438;NP_001138496;Q6UQ28 Hs.632097 1336030;2119260;7186250 D11S1347;SGC31351 PLET1 OTTHUMP00000235436;placenta expressed transcript 1;placenta-expressed transcript 1 protein protein-coding ENSG00000188771 30053 611904 PROVISIONAL 1354417 C11orf31 chromosome 11 open reading frame 31 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54865438 54867599 + 57265298 57267459 + 57508722 57510883 + 737633;6480464 12477932 19766117;17526492;17389926;17337453;15489334;12775843;21048031;20656065 280636 H0YCX8;H0YE28;Q8IZQ5 ABBA01021477;AF085883;AF536829;AJ276249;AJ276250;AMYH01003654;AP001931;BC021122;BC064570;BX493234;CH471076;NM_170746 AAH21122;AAN61472;EAW73781;EAW73782;NP_734467;Q8IZQ5 Hs.655373;Hs.744024 1725705;1739601;1777157;2123346;2164896 D11S4051E;D11S4605;G62115;RH18244;SGC30725 C17orf10;SELH OTTHUMP00000235475;OTTHUMP00000235568;OTTHUMP00000235569;selenoprotein H APPROVED protein-coding 18251 07447 607914 REVIEWED 1605575 C11orf40 chromosome 11 open reading frame 40 11 11 11 p15.5 4716853 4723256 - 4549229 4555626 - 4592653 4599050 - 20237496 143501 Q8WZ69 ABBA01028640;AC090719;AF439154;AMYH01003361;CH471064;NM_144663 AAI52950;AAL31642;EAW68838;NP_653264;Q8WZ69 Hs.350556 NOV1 OTTHUMP00000229412;putative uncharacterized protein C11orf40;ro/SSA1-related protein protein-coding ENSG00000171987 23986 17643 PREDICTED 1347638 C11orf16 chromosome 11 open reading frame 16 11 11 11 p15.3 9061388 9074315 - 8898199 8911129 - 8941623 8954553 - 6480464 16344560;16189514;15489334;12477932;11528127;8889548;8125298 56673 E9PI19;E9PNY9;Q9NQ32 ABBA01061203;AC026894;AJ400877;AK074455;AK223377;AMYH01003377;BC027865;CA310676;CH471064;DA399415;NM_020643 AAH27865;BAD97097;CAB92289;EAW68611;EAW68612;EAW68613;NP_065694;Q9NQ32 Hs.277349 OTTHUMP00000230641;OTTHUMP00000230642;hypothetical protein LOC56673;uncharacterized protein C11orf16 protein-coding ENSG00000176029 1169 12604 VALIDATED 1601924 C11orf44 chromosome 11 open reading frame 44 11 11 q24.3 130048063 130089472 + 130542853 130587247 + 14702039;23251661 283171 Q8N8P7 ABBA01023046;AK096377;AMYH01004130;AP003486;CH471065;NM_001271983;XR_110537;XR_111233;XR_171928 BAC04771;EAW67791;NP_001258912;Q8N8P7 Hs.376151 1737707 D11S3304 FLJ39058 uncharacterized protein C11orf44 protein-coding ENSG00000175728 26805 08250 VALIDATED 1350055 C11orf32 chromosome 11 open reading frame 32 12970790;12477932;8619474 442871 BC040643;U90916 Hs.368592 protein-coding 21712 1323665 C11orf24 chromosome 11 open reading frame 24 11 11 11 q13 65362696 65374268 - 67785383 67795997 - 68028803 68039469 - 6480464 15498874;15489334;12975309;12477932;11401438 53838 E9PI63;E9PRU5;Q96F05 ABBA01024008;AF264781;AF370372;AMYH01003759;AP002813;AP002992;AY358754;BC011765;BG701401;CH471076;NM_022338 AAG36936;AAH11765;AAQ15208;AAQ89114;ADZ15751;EAW74702;EAW74703;EAW74704;NP_071733;Q96F05 Hs.303025 1709710;2135270;2163601;2185635 RH17410;RH45838;SGC38070;SHGC-86344 DM4E3 OTTHUMP00000236022;OTTHUMP00000236024;hypothetical protein LOC53838;uncharacterized protein C11orf24 protein-coding ENSG00000171067 1174 10704 610880 VALIDATED 1603159 C11orf35 chromosome 11 open reading frame 35 11 11 11 p15.5 617191 623436 - 544857 550779 - 554850 560779 - 15489334;12477932 256329 C9JV74;E9PJR3;Q8IXW0 ABBA01015192;AI539379;AMYH01003287;AP006284;BC037936;BC039077;BX384084;BX384085;CH471158;NM_173573 AAH39077;EAX02345;EAX02346;EAX02347;NP_775844;Q8IXW0 Hs.669395 1693542 SHGC-58456 MGC35138 OTTHUMP00000162850;hypothetical protein LOC256329;uncharacterized protein C11orf35 protein-coding ENSG00000185522 28561 14600 VALIDATED 1345109 C11orf30 chromosome 11 open reading frame 30 11 11 q13.5 75833717 75940237 + 76156069 76262589 + 6480464 16615912;19131338;19124506;18950845;18787380;18587394;18393977;18314909;16236351;16145051;16029503;15978617;15947784;15489334;15302935;14702039;14651845;12477932;19636701;21409565;19349984;20379614;20453000;20503266;19760754;21064104;21072187;20349280;20508642;21327470;21987572;19471022;21693764;21906983;22070912;22036096;22315412;21102463;23042114;22505724 56946 B7ZKT8;B7ZKU0;B7ZKU2;E9PMC9;E9PPE6;H0YCS3;H0YDI4;H0YEP9;H0YET8;Q17RM7;Q7Z589 ABBA01017449;AF226047;AJ430203;AK023651;AK125114;AK126030;AK304043;AK304106;AK309621;AMYH01003821;AP002360;AP003165;AY070433;BC021688;BC029375;BC033404;BC117265;BC143370;BC143374;BC143376;BG722092;BX647398;CH471076;NM_020193 AAF86947;AAH29375;AAH33404;AAI17266;AAI43371;AAI43375;AAI43377;AAL65260;BAB14627;BAG54147;BAG54280;BAG64954;BAG65009;CAD22881;EAW74996;EAW74997;EAW74998;EAW74999;EAW75000;NP_064578;Q7Z589 Hs.352588 1654874;1670406;1677410;1680705;1697880;1854586;2115790;2120438;2125343;2176511;5022578;5024761;5109281 B291YH9;D11S4372;D11S493;D1S1423;D1S1425;RH102468;RH12113;RH36108;RH36905;RH91459;RH93961;SHGC-31396;SHGC-57297 EMSY;FLJ90741;GL002 OTTHUMP00000229238;OTTHUMP00000229239;OTTHUMP00000229240;OTTHUMP00000229241;OTTHUMP00000229242;OTTHUMP00000229289;protein EMSY protein-coding ENSG00000158636 18071 10544 608574 VALIDATED 1603865 C11orf47 chromosome 11 open reading frame 47 11 p15.4 6475107 6498666 + 14702039;12477932 283294 AC084337;AK093028;AK096944;BC111765;BX648742;NM_173589 AAI11766;BAC04023;NP_775860;Q2NKK8 Hs.377188 FLJ35709;MGC133191 protein-coding 26651 08184 1602976 C11orf42 chromosome 11 open reading frame 42 11 11 11 p15.4 6345882 6351444 + 6183374 6188938 + 6226798 6232365 + 15489334;12477932 160298 Q8N5U0 AA781757;ABBA01028663;AC022762;AMYH01003366;BC031612;CH471064;NM_173525 AAH31612;EAW68741;NP_775796;Q8N5U0 Hs.278221 MGC34805 OTTHUMP00000164534;hypothetical protein LOC160298;uncharacterized protein C11orf42 protein-coding ENSG00000180878 28541 14590 VALIDATED 1604913 C11orf55 chromosome 11 open reading frame 55 11 p13 36247410 36251485 - 14702039 399879 Q6ZST8 AC087277;AK127155;NM_207428 BAC86858;NP_997311;Q6ZST8 Hs.99443 2109181 COMMD9_9578 FLJ45212 protein-coding 23262 13500 1604294 C11orf48 chromosome 11 open reading frame 48 11 11 11 q12.3 59759867 59768820 - 62186865 62195817 - 62430289 62439241 - 6480464 17154719;14702039;12477932;16196087;21139048 79081 E9PJ17;E9PL64;E9PMK4;E9PQ29;E9PRG8;F5H6J2;Q9BQE6 ABBA01003235;ABBA01003236;AK055736;AK124145;AK302538;AMYH01003690;AP001458;BC001434;BI831485;CH471076;NM_024099 AAH01434;BAG63810;EAW74052;EAW74053;EAW74054;EAW74055;EAW74056;EAW74057;EAW74058;NP_077004;Q9BQE6 Hs.9061 1671442;1769769;5022200;5022578;5022651;5109281 D11S2921;D11S4642;D1S1423;D1S1425;L18426;RH66004 MGC2477 OTTHUMP00000236272;OTTHUMP00000236273;OTTHUMP00000236274;hypothetical protein LOC79081;uncharacterized protein C11orf48 protein-coding ENSG00000162194 28351 14499 VALIDATED 1606680 C11orf45 chromosome 11 open reading frame 45 11 11 11 q24.3 125937769 125943905 - 128274670 128280802 - 128769460 128776126 - 6480464 15489334;12477932;21832049;16344560 219833 Q8TAV5 ABBA01023015;AK125634;AK314137;AMYH01004122;AP000920;BC025756;BX956612;CH471065;DB219954;NG_023406;NM_001256088;NM_145013;NR_045767 AAH25756;ABM82570;ABM85759;BAG36827;BAG54227;EAW67728;EAW67729;EAW67730;NP_001243017;NP_659450;Q8TAV5 Hs.689860 FLJ43646;MGC35558 OTTHUMP00000230990;OTTHUMP00000230991;putative uncharacterized protein C11orf45 protein-coding ENSG00000174370 28584 11344 VALIDATED 1353268 C11orf6 chromosome 11 open reading frame 6 9286704 742 1178 1604761 C11orf52 chromosome 11 open reading frame 52 11 11 11 q23.1 108942809 108950804 + 111294811 111302805 + 111789601 111797595 + 6480464 15489334;14702039;12477932;21832049 91894 E9PPX5;Q96A22 ABBA01039810;AK057948;AMYH01004032;AP000907;BC008501;BQ102454;CH471065;NG_009824;NM_080659 AAH08501;BAB71620;EAW67170;NP_542390;Q96A22 Hs.97013 FLJ25219;MGC131888;MGC14839 OTTHUMP00000234296;OTTHUMP00000234297;hypothetical protein LOC91894;uncharacterized protein C11orf52 protein-coding ENSG00000149300 30531 14444 VALIDATED 1605809 C11orf53 chromosome 11 open reading frame 53 11 11 11 q23.1 108279889 108310160 + 110631917 110662183 + 111126707 111156973 + 18753146;15489334;12477932;17207965;21832049 341032 Q8IXP5 ABBA01039824;AMYH01004029;AP002448;BC039669;CH471065;NM_198498 AAH39669;ADQ33056;EAW67135;NP_940900;Q8IXP5 Hs.298685 MGC50104 OTTHUMP00000233927;hypothetical protein LOC341032;uncharacterized protein C11orf53 protein-coding ENSG00000150750 30527 14663 PREDICTED 1604290 C11orf49 chromosome 11 open reading frame 49 11 11 11 p11.2 47103848 47325170 + 46914827 47142508 + 46958251 47185932 + 6480464 16713569;16381901;16189514;15489336;15489334;14702039;12477932;11230166;11076863;8889548;16169070;21502573;17207965;20379614;18029348;21900206;21906983;16344560;21963094;21988832 79096 B4DUV7;E9PI12;E9PI28;E9PQA0;E9PQS2;F5H6E0;H0YDE7;H0YDJ0;Q9H6J7 ABBA01060721;ABBA01060722;ABBA01060723;ABBA01060724;ABBA01060725;AC021573;AC090470;AC090589;AC103792;AK025863;AK293609;AK300813;AK315639;AK316318;AL136575;AMYH01003536;AMYH01003537;AMYH01003538;AMYH01003539;BC001860;BC009455;BC013988;BC052291;BI763384;BQ428072;BU728094;CH471064;CK724853;CR457351;DA374145;DA487960;DB027437;NM_001003676;NM_001003677;NM_001003678;NM_001278222;NM_024113;NR_103471;NR_103472 AAH01860;AAH09455;AAH13988;AAH52291;ADQ31717;BAB15262;BAG57072;BAG62469;BAH14689;CAB66510;CAG33632;CAL38461;CAL38682;EAW67969;EAW67970;EAW67971;EAW67972;EAW67973;NP_001003676;NP_001003677;NP_001003678;NP_001265151;NP_077018;Q9H6J7 Hs.368296 1650999;1679706;1685421;1701120;1768054;1768056;1854697;2134341;2140282;2146850;2161404;2163167;5114561 A002C04;AFM310VE1;D11S1085;D11S2039;D11S3969;D11S4059;D11S4709;G19914;RH104188;RH10546;RH66756;T03584;WI-14595 FLJ22210;MGC4707 OTTHUMP00000234069;OTTHUMP00000234070;OTTHUMP00000234071;OTTHUMP00000234073;UPF0705 protein C11orf49;hypothetical protein LOC79096 protein-coding ENSG00000149179 28720 08332 VALIDATED 1603055 C11orf54 chromosome 11 open reading frame 54 11 11 11 q21 90766246 90787706 + 93114441 93135895 + 93474793 93496247 + 6480464 16522806;16189514;15498874;15489334;12477932;11256614;11230166;8125298;19060904;21832049;18781797;21139048;21906983;22505724 28970 E9PIP1;E9PJU8;E9PLB3;E9PLC5;E9PPB5;E9PQS1;E9PR95;E9PSC3;Q9H0W9 ABBA01040043;AF092133;AK129932;AK225977;AK291833;AK292215;AL136605;AMYH01003959;AMYH01003960;AP001273;AY203960;BC007110;BC012298;BC046477;CH471065;CR533538;NM_014039 AAD40375;AAH07110;AAH12298;AAP34483;ACE86551;ACE87233;BAF84522;BAF84904;CAB66540;CAG38569;EAW66915;EAW66916;EAW66917;EAW66918;EAW66919;NP_054758;Q9H0W9 Hs.8360 1657058;1675389;1687393;2110683;5020740 L17809;PTD012_9567;RH46581;RH98894;STS-T40968 PTD012 LP4947;OTTHUMP00000235970;OTTHUMP00000235971;OTTHUMP00000235973;OTTHUMP00000235974;ester hydrolase C11orf54 protein-coding ENSG00000182919 30204 17923 PROVISIONAL 1605379 C11orf57 chromosome 11 open reading frame 57 11 11 11 q23.1 109098159 109109066 + 111450178 111461084 + 111944968 111955874 + 6480464 21145461;17213182;17207965;15489334;14702039;12477932;8889548;19322201;21988832 55216 E9PKA8;E9PLE3;E9PPH9;E9PQL5;E9PSC8;Q6ZUT1 AB096251;ABBA01039805;AK001588;AK094203;AK125340;AMYH01004034;AP000907;AP002007;BC005403;BC030546;BC048133;BC072455;BG115155;BM670479;BX538107;CD244552;CD706604;CH471065;DT220380;EL736728;NM_001082969;NM_001082970;NM_018195;NR_103469 AAH05403;AAH30546;AAH48133;AAH72455;BAA91774;BAC86137;CAD98020;EAW67178;EAW67179;NP_001076438;NP_001076439;NP_060665;Q6ZUT1 Hs.195060 1669935;1676286;1677995;1683709;1688610;1715823;2136430;2144740;2148222;2153457;2158077;5016478;5022578;5022651;5037552 D11S2329E;D11S2921;D1S1423;D8S2279;GDB:434012;RH119608;RH64925;RH80714;RH91851;RH94303;RH94343;SHGC-53144;STS-N20376;WI-11979;WI-13525 FLJ10726 OTTHUMP00000196623;OTTHUMP00000196624;OTTHUMP00000234713;OTTHUMP00000234714;OTTHUMP00000234718;OTTHUMP00000234719;hypothetical protein LOC55216;uncharacterized protein C11orf57 protein-coding ENSG00000150776 25569 07695 VALIDATED 1605626 C11orf63 chromosome 11 open reading frame 63 11 11 11 q24.1 119912750 119989824 + 122258683 122335640 + 122753473 122830430 + 6480464 15489334;14702039;12477932;20379614;21832049;19953087;11329013 79864 B3KUM2;Q6NUN7 ABBA01031278;AK027207;AK097534;AK291625;AMYH01004095;AP003040;AP004318;BC009820;BC068507;BG182647;BU069407;CD244380;CH471065;NM_024806;NM_199124 AAH09820;AAH68507;BAB15691;BAF84314;BAG53484;EAW67533;EAW67534;EAW67535;EAW67536;NP_079082;NP_954575;Q6NUN7 Hs.164705 1847133;5022578;5022635 D11S2750;D1S1423;DXS6735 FLJ23554 OTTHUMP00000231741;OTTHUMP00000231742;hypothetical protein LOC79864;uncharacterized protein C11orf63 protein-coding ENSG00000109944 26288 08035 VALIDATED 1605695 C11orf58 chromosome 11 open reading frame 58 11 11 11 p15.1 16887272 16907025 + 16716770 16734149 + 16760148 16779901 + 9263035;17081983;16094384;15592455;15489334;15342556;14702039;12477932;16169070;19615732;17207965;22863883;22939629;21900206;21987572;21890473;21906983;21963094;22053931;22505724 10944 E3W975;E9PM92;E9PQA1;E9PRZ9;O00193 ABBA01061082;ABBA01061083;AC026639;AK057169;AK093998;AK094549;AK315382;AMYH01003408;AMYH01003409;BC007103;BC016352;BC020937;BC103747;BP210918;BP226882;BU661194;BX648095;CH471064;CR456882;NM_014267;U51678 AAB99729;AAH07103;AAH16352;AAH20937;AAI03748;ADQ32805;BAG37775;CAG33163;EAW68455;EAW68456;EAW68457;NP_055082;O00193 Hs.645792 1679555;1683851;1684736;1685852;1688839;1699582;1725837;2173964;5015861;5015961;5022322;5022450;5037552;5094052;5117897;7185938 D10S16;D10S275;D11S2560;D15S1477;D8S2279;G34942;G62005;GDB:631813;RH103392;RH65290;RH66943;RH69440;RH70667;RH93893;STS-N24765 DKFZp686N0232;IMAGE145052;MGC117265;SMAP OTTHUMP00000231501;OTTHUMP00000231502;OTTHUMP00000231503;OTTHUMP00000231504;small acidic protein protein-coding 16990 18069 VALIDATED 1603171 C11orf65 chromosome 11 open reading frame 65 11 11 11 q22.3 105408665 105493182 - 107758937 107843468 - 108253727 108338258 - 16344560;16189514;15489334;12477932;19692168;17207965;21186350;21845381 160140 B4DZU4;E9PQ22;H0YD27;Q8NCR3 ABBA01039865;ABBA01039866;ABBA01039867;ABBA01039868;AK303096;AMYH01004021;AMYH01004022;AP005718;BC029536;CH471065;DB104722;NM_152587 AAH29536;ADQ32314;BAG64206;EAW67116;EAW67117;EAW67118;NP_689800;Q8NCR3 Hs.653180 1341224;1675834;1771108;2111816;2133951;7185380 D11S1778;D11S4498;D11S535;RH68683;SGC35029 MGC33948 OTTHUMP00000233034;OTTHUMP00000233297;hypothetical protein LOC160140;uncharacterized protein C11orf65 protein-coding ENSG00000166323 28519 14579 VALIDATED 1602657 C11orf69 chromosome 11 open reading frame 69 11 p13 33650553 33652224 + 15489334;14702039;12477932 120196 Q8TAY4 AK094307;AL049629;BC025668;CH471064;NM_152314 AAH25668;EAW68195;NP_689527;Q8TAY4 Hs.22270 MGC34830 protein-coding 28545 14593 1602858 C11orf68 chromosome 11 open reading frame 68 11 11 11 q13.1 63008205 63010455 - 65440857 65443107 - 65684281 65686531 - 6480464 16169070;16511166;16189514;15489334;12477932;8889548;17207965;21139048;20360068;21900206 83638 Q9H3H3 ABBA01024097;AF073483;AMYH01003727;AP006287;BC004414;BC010512;BC013185;BM705907;CH471076;CX866110;NM_001135635;NM_031450 AAG43171;AAH04414;AAH10512;AAH13185;ADQ31656;EAW74470;EAW74471;NP_001129107;NP_113638;Q9H3H3 Hs.433573 1858198;2142411 D11S4689;WI-17663 BLES03;P5326 OTTHUMP00000211566;OTTHUMP00000234042;UPF0696 protein C11orf68;basophilic leukemia expressed protein BLES03;basophilic leukemia-expressed protein Bles03;protein p5326 protein-coding ENSG00000175573 28801 12553 VALIDATED 1625825 C11orf81 chromosome 11 open reading frame 81 p15.5 100073348 AK124467;AK124948 BAC85857;BAC86004;Q6ZV59;Q6ZVK4 Hs.595642;Hs.595659 FLJ42958 protein-coding 33489 1605606 C11orf70 chromosome 11 open reading frame 70 11 11 11 q22.1 99079748 99116853 + 101423409 101459360 + 101918169 101955291 + 6480464 15489334;14702039;12477932;21145461 85016 E9PM77;H0YCT8;Q7Z2V0;Q9BRQ4 ABBA01039949;ABBA01039950;ABBA01039951;ABBA01039952;AK094851;AMYH01003991;AP001527;BC006128;BC054869;BG700929;CH471065;NM_001195005;NM_032930 AAH06128;AAH54869;EAW67009;EAW67010;NP_001181934;NP_116319;Q9BRQ4 Hs.98328 1675648;5022649 D11S2875;RH98419 MGC13040 OTTHUMP00000235690;OTTHUMP00000235691;OTTHUMP00000235692;hypothetical protein LOC85016;uncharacterized protein C11orf70 protein-coding ENSG00000137691 28188 14433 VALIDATED 1604001 C11orf71 chromosome 11 open reading frame 71 11 11 11 q23.2 111415112 111424085 - 113775003 113776443 - 114262170 114271272 - 6480464 15489334;14702039;12477932;17207965;21832049;21804549 54494 Q6IPW1 ABBA01039770;AK000017;AMYH01004043;AP002373;BC009041;BC071695;CH471065;CR457222;HY013971;NM_001271562;NM_019021 AAH09041;AAH71695;ADQ31939;BAA90886;CAG33503;EAW67245;NP_001258491;NP_061894;Q6IPW1 Hs.715083 1685928;1771929;2131054;2162879 RH99159;SHGC-36830;STS-H59141;STS-N34855 FLJ20010 OTTHUMP00000238389;hypothetical protein LOC54494;uncharacterized protein C11orf71 protein-coding ENSG00000180425 25937 07874 VALIDATED 1601925 C11orf72 chromosome 11 open reading frame 72 11 q13.2 67126927 67130753 - 15489334;14702039;12477932 283135 Q8NBR9 AK075315;AP003385;BC104448;BC104449;CH471076;CQ783922;NM_173578 AAI04449;AAI04450;BAC11541;CAF86926;EAW74651;NP_775849;Q8NBR9 Hs.382074 2135126;2154732 D11S2245E;STS-N93261 FLJ90834;MGC129824;MGC129825 protein-coding 26915 08302 1603277 C11orf74 chromosome 11 open reading frame 74 This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 11 11 11 p12 36768524 36833247 + 36572669 36637393 + 36616093 36680817 + 6480464 14702039;12477932;18433331;19773279;17207965;21478494;12107413;12766061;16157265;8889548 119710 A8K468;B4DSA3;B4DYW4;E9PJ48;E9PL16;E9PPH4;Q86VG3 ABBA01060845;AC139427;AK095997;AK290833;AK299642;AK302634;AMYH01003500;BC009561;BC051031;BI831382;BM670168;BQ018679;CD101968;CD674194;CD678640;CH471064;DQ121386;HY051439;NG_033154;NM_001276722;NM_001276723;NM_001276724;NM_001276725;NM_001276726;NM_001276727;NM_138787;NR_077243 AAH09561;AAH51031;AAZ29248;ADQ33126;ADZ15982;BAF83522;BAG61565;BAG63876;EAW68112;EAW68113;EAW68114;EAW68115;EAW68116;NP_001263651;NP_001263652;NP_001263653;NP_001263654;NP_001263655;NP_001263656;NP_620142;Q86VG3 Hs.159376 1763363;1791318;2158880;2190819 D11S4272;PMC102178P2;RAG2;SHGC-147088 FLJ38678;HEPIS HEPIS;OTTHUMP00000232798;OTTHUMP00000232799;hypothetical protein LOC119710;uncharacterized protein C11orf74 protein-coding ENSG00000166352 25142 14019 REVIEWED 2298933 C11orf86 chromosome 11 open reading frame 86 11 11 11 q13.2 64071255 64072980 + 66499330 66501055 + 66742754 66744479 + 21926972 254439 A6NJI1 ABBA01024054;AK026328;AMYH01003738;AP003176;NM_001136485 A6NJI1;NP_001129957 Hs.232604 FLJ22675 OTTHUMP00000204297;hypothetical protein LOC254439;uncharacterized protein C11orf86 protein-coding ENSG00000173237 34442 PREDICTED 1604822 C11orf73 chromosome 11 open reading frame 73 11 11 11 q14.2 83323908 83367617 + 85690936 85734633 + 86013253 86056985 + 6480464 15489334;14702039;12477932;11042152;8889549;19734545;8125298;21832049;21139048;22541429 51501 E9PJB2;E9PPG8;Q53FT3 AA148558;ABBA01017322;ABBA01017323;AF151082;AF161487;AF161527;AK001447;AK125010;AK223198;AK298763;AMYH01003851;AP001148;BC001677;BC006476;BC015991;BC018080;BC021621;BE858273;BP423222;BX332668;CH471076;NM_016401;NR_024596;NR_024597;NR_024598 AAF29102;AAF29142;AAF36168;AAH01677;AAH06476;AAH15991;AAH18080;AAH21621;ABM83657;ABM86903;BAA91698;BAD96918;BAG60905;EAW75133;EAW75134;EAW75135;EAW75136;EAW75137;NP_057485;Q53FT3 Hs.283322 1797078;2161120 AW465254;RH46883 FLJ43020;HSPC138;HSPC179;Hikeshi;L7RN6;OPI10 OTTHUMP00000235491;OTTHUMP00000235492;lethal, Chr 7, Rinchik 6;protein Hikeshi;uncharacterized protein C11orf73 protein-coding ENSG00000149196 26938 13701 614908 VALIDATED 1605958 C11orf80 chromosome 11 open reading frame 80 11 11 11 q13.2 63839232 63954092 + 66268783 66367375 + 66512207 66610987 + 6480464 12477932;18160775;8125298;21906983;21926972 79703 B4DXL1;C9JZP8;E9PIE7;E9PJS1;E9PKM2;E9PMI8;E9PMU2;E9PNG9;H0YD22;H0YD55;H0YDL3;H0YE21;Q8N6T0 ABBA01024061;ABBA01024062;ABBA01024063;ABBA01024064;AK026184;AK225435;AK302025;AMYH01003736;AP000485;AP001157;BC028240;BE676873;BI559574;CH471076;NM_024650;NR_048553 AAH28240;ADZ16029;BAB15387;BAG63423;EAW74562;EAW74563;NP_078926;Q8N6T0 Hs.292088 1668178;1682049;1683259;1742561;1748401;1751473;1756913;1852576;2152544;2153975;2219470 D19Ertd98e;GDB:197884;PC;PC__5832;RH16038;RH46345;RH65295;RH98933;SHGC-105288;SHGC-144078;SHGC-30028 FLJ22531 OTTHUMP00000235640;OTTHUMP00000235643;putative uncharacterized protein C11orf80 protein-coding ENSG00000173715 26197 07993 VALIDATED 1604233 C11orf84 chromosome 11 open reading frame 84 11 11 11 q13.1 60906819 60921088 + 63337499 63351766 + 63580923 63595190 + 6480464 12477932;17207965;19471022;21693764;21252943;22554406;20462248;23246001;18271526 144097 H0YGK9;H0YGY5;Q9BUA3 ABBA01003271;AMYH01003695;AMYH01003696;AP006289;BC002782;BC007540;BC056402;CH471076;CR749697;NM_138471 AAH02782;AAH07540;AAH56402;ADQ33061;CAH18477;EAW74172;NP_612480;Q9BUA3 Hs.502793 1679111 RH92977 DKFZp762N0114 OTTHUMP00000236746;hypothetical protein BC007540;hypothetical protein LOC144097;uncharacterized protein C11orf84 protein-coding ENSG00000168005 25115 14064 PREDICTED 1602159 C11orf92 chromosome 11 open reading frame 92 11 11 11 q23.1 108317301 108323726 - 110669380 110675749 - 111164114 111170539 - 6480464 18753146;19843678;20501757;20530476;20638935;20648012;23266556;18372901;21761138 399948 Q6ZS62 AB096245;ABBA01039823;AK127703;AMYH01004029;AP002448;CR936778;NG_027686;NR_034154 Q6ZS62 Hs.729225 1661431;1858167;5022578 D1S1423;RH46428;SGC44508 DKFZp781P19126;FLJ45803 hypothetical protein LOC399948 miscrna ENSG00000196167 33789 13513 VALIDATED 2301118 C11orf91 chromosome 11 open reading frame 91 11 11 11 p13 33867158 33869790 - 33676551 33678862 - 33719654 33722286 - 6480464 11181995 100131378 H0YDE1;Q3C1V1 AB231759;AB231760;ABBA01060883;ABBA01060884;AL049629;AMYH01003485;CH471064;NM_001166692 BAE46895;BAE46896;EAW68194;NP_001160164;Q3C1V1 Hs.709466 OTTHUMP00000232606;hypothetical protein LOC100131378;uncharacterized protein C11orf91 protein-coding 34444 VALIDATED 1602966 C11orf82 chromosome 11 open reading frame 82 11 11 11 q14.1 79922489 79955453 + 82290417 82323349 + 82612737 82645701 + 6480464 17515607;16344560;14702039;12477932;23251661;23383273 220042 B4DMA1;B4DS54;E9PLJ5;E9PM93;E9PMA7;E9PN94;E9PQP9;Q8IXT1 AA477171;ABBA01017369;AK023998;AK058145;AK096157;AK292399;AK297366;AK299581;AMYH01003839;AP001646;BC039268;CH471076;DB023053;DB454086;NM_145018 AAH39268;ACE86786;ACE87472;BAB14764;BAB71685;BAF85088;BAG59813;BAG61516;EAW75077;NP_659455;Q8IXT1 Hs.165607 5024761 RH36905 FLJ13936;FLJ25416;FLJ38838;noxin OTTHUMP00000234447;OTTHUMP00000234449;OTTHUMP00000234450;OTTHUMP00000234451;OTTHUMP00000234453;nitric oxide-inducible gene protein protein-coding ENSG00000165490 26351 08062 VALIDATED 3543119 C11orf94 chromosome 11 open reading frame 94 11 11 11 p11.2 46075690 46076438 - 45884661 45885409 - 45928085 45928833 - 6480464 11181995 143678 C9JXX5 ABBA01060758;AC068385;AMYH01003532;CH471064;CS110276;CS441543;NG_012153;NM_001080446 C9JXX5;CAJ09917;CAL68853;EAW68025;NP_001073915 Hs.193741 1700176 RH103702 OTTHUMP00000234738;hypothetical protein LOC143678;uncharacterized protein C11orf94 protein-coding ENSG00000234776 37213 VALIDATED 1604186 C11orf85 chromosome 11 open reading frame 85 11 11 11 q13.1 62031898 62065337 - 64462505 64495934 - 64705929 64739358 - 14702039;12477932 283129 B3KS99;E9PPE5;E9PRZ4;H0YEC1;Q3KP22 ABBA01024138;ABBA01024139;AK093130;AMYH01003715;AMYH01003716;AP000436;AP001187;BC033501;BC106951;BC106952;CH471076;NM_001037225 AAI06952;AAI06953;BAG52661;EAW74328;NP_001032302;Q3KP22 Hs.567793 1648536;1684491;1709622;2124233 G33093;G33094;RH92578;SHGC-85173 MGC126364 OTTHUMP00000230539;hypothetical protein LOC283129;uncharacterized protein C11orf85 protein-coding ENSG00000168070 27441 18761 PREDICTED 2298819 C11orf83 chromosome 11 open reading frame 83 11 11 11 q12.3 59768705 59769431 + 62195702 62196428 + 62439126 62441162 + 6480464 15489334;15340161;12975309;12477932;8889548;21139048;21890473;20159687;22939629 790955 Q6UW78 ABBA01003236;AI972746;AMYH01003690;AP001458;AY358935;BC090057;BF055120;BG385605;CA422425;CF131173;CS072473;NM_001085372 AAH90057;AAQ89294;CAI93611;NP_001078841;Q6UW78 Hs.569009 1671442;5017326;5024761 D8S377;RH36905;RH66004 CCDS41658.1;MGC87549;UNQ655 UPF0723 protein C11orf83;VEGA:LOC790955;hypothetical protein LOC790955 protein-coding ENSG00000204922 34399 VALIDATED 1351175 C12orf15 chromosome 12 open reading frame 15 404282 31383 1602158 C11orf88 chromosome 11 open reading frame 88 11 11 11 q23.1 108538699 108560942 + 110890720 110912966 + 111385510 111407756 + 12477932 399949 E9PN74;H0YE60;Q6PI97 ABBA01039819;AI829856;AK128145;AMYH01004031;AP002008;BC039505;CH471065;NM_001100388;NM_207430 AAH39505;BAC87297;EAW67142;NP_001093858;NP_997313;Q6PI97 Hs.411600 2111778 D11S4475 FLJ46266 OTTHUMP00000234048;OTTHUMP00000234049;OTTHUMP00000234050;UPF0722 protein C11orf88;hypothetical gene supported by BC039505;hypothetical protein LOC399949 protein-coding ENSG00000183644 25061 13529 VALIDATED 1604683 C11orf87 chromosome 11 open reading frame 87 11 11 11 q22.3 106447057 106454104 + 108798085 108801533 + 109292846 109299893 + 12477932;14702039;16344560 399947 Q6NUJ2 AB096240;ABBA01039849;AK091086;AK303693;AMYH01004025;AP000775;BC035798;BC068577;CH471065;DA221578;DA232989;NM_207645 AAH35798;AAH68577;BAG64681;EAW67125;NP_997528;Q6NUJ2 Hs.172982 1655103;2159044;2162976;2172180;2172182 2042;A006D24;G20722;RH66482;WI-12221 FLJ33767;LOH11CR1A OTTHUMP00000233418;hypothetical protein LOC399947;uncharacterized protein C11orf87 protein-coding ENSG00000185742 33788 14218 VALIDATED 4108561 C11orf96 chromosome 11 open reading frame 96 11 11 11 p11.2 44109952 44111266 + 43903468 43922578 + 43964106 43965433 + 6480464 12477932 387763 E9PKL4;Q7Z7L8 ABBA01060773;ABBA01060774;AC087521;AMYH01003521;AMYH01003522;BC052560;NM_001145033 AAH52560;NP_001138505;Q7Z7L8 Hs.530443 1682073 RH93880 AG2 OTTHUMP00000233416;protein Ag2 homolog;uncharacterized protein C11orf96 protein-coding 38675 VALIDATED 2910589 C11orf95 chromosome 11 open reading frame 95 11 11 11 q13 60853238 60859651 - 63283940 63290900 - 63527364 63536113 - 6480464 12477932;14702039;20607705 65998 C9JLR9 AB231750;AB231751;AB231752;ABBA01003264;ABBA01003265;ABBA01003266;AK096306;AMYH01003694;AP006289;BC000572;BC021866;BC033262;BC065479;NM_001144936 BAE46893;C9JLR9;NP_001138408 Hs.191073 1658131;1786238 D7S2862;SHGC-132011 MGC3032 hypothetical protein LOC65998;uncharacterized protein C11orf95 protein-coding 28449 PREDICTED 1350875 C12orf10 chromosome 12 open reading frame 10 12 12 12 q13 53342755 53350242 + 51979737 51987232 + 53693470 53700965 + 6480464 15231748;20377893;16996721;19014353;15146197;12477932;17207965;22863883;22939629;18624398;18781797;21139048;21693764;16263121;22505724 60314 F8VQQ3;F8VR84;H3BPH3;Q86UA3;Q9HB07 AA972697;ABBA01008325;AC073611;AF111805;AF289485;AK293449;AMYH01004479;BC013956;BC028904;BC051871;BM551107;CH471054;CN308888;NM_021640 AAG17847;AAH13956;AAH28904;AAH51871;AAL39007;ADQ33071;ADZ15817;BAG56948;EAW96687;EAW96688;EAW96689;EAW96690;NP_067653;Q9HB07 Hs.655988 1659302;1672010;1736262;2146252;2149106 D12S1190E;D12S1220E;RH11320;RH15738;SHGC-31943 Gamm1;MST024;MSTP024;MYG;MYG1 MYG1 protein;OTTHUMP00000242634;OTTHUMP00000242636;OTTHUMP00000242637;UPF0160 protein MYG1, mitochondrial;melanocyte related protein-coding ENSG00000139637 17590 10705 611366 VALIDATED 1606480 C12orf29 chromosome 12 open reading frame 29 12 12 12 q21.32 88097282 88111951 + 86953399 86968068 + 88429268 88443937 + 16381901;15489336;14702039;12477932;11230166;11076863;21139048 91298 G3V1X7;Q8N999 ABBA01053428;AC091516;AK095477;AK311153;AK311222;AL049382;AL137488;AMYH01004646;BC035136;BC058014;BC092422;BX537868;BX640968;BX648026;CH471054;CR936776;NM_001009894 AAH35136;AAH58014;AAH92422;BAC04555;CAB70767;CAD97870;CAE45983;CAH10541;CAL37802;EAW97409;EAW97410;EAW97411;EAW97412;NP_001009894;Q8N999 Hs.591009 1653957;1674616;1686708;2118522 RH15617;RH77897;RH77993;WI-22205 DKFZp313K0436;DKFZp434N2030;DKFZp686L04169;FLJ38158;MGC102978 OTTHUMP00000242335;hypothetical protein LOC91298;uncharacterized protein C12orf29 protein-coding ENSG00000133641 25322 13199 VALIDATED 2798065 C11orf93 chromosome 11 open reading frame 93 11 11 11 q23.1 108323163 108332531 + 110673563 110684670 + 111169271 111179460 + 6480464 10737800;12477932;14702039;15489334;16344560;18372901;19240061;21071539;21761138;23266556 120376 A8K830;E9PMJ8 ABBA01039823;AK292195;AMYH01004029;AP002448;BC042557;BC110079;BF811304;BQ893717;DA307321;HY114242;NM_001136105;NM_001271457;NM_001271458 A8K830;AAI10080;BAF84884;NP_001129577;NP_001258386;NP_001258387 Hs.31409;Hs.744538 1646073;1658336;1697336 D11S4019;RH102165;RH44992 OTTHUMP00000233928;OTTHUMP00000233929;OTTHUMP00000233930;Uncharacterized protein LOC120376;hypothetical protein LOC120376;uncharacterized protein C11orf93 protein-coding ENSG00000214290 26978 VALIDATED 1602311 C12orf23 chromosome 12 open reading frame 23 12 12 12 q23.3 107015122 107033374 + 105873835 105891892 + 107349544 107367813 + 6480464 15489334;14702039;12477932;17207965;21139048;19322201;22504420 90488 F8VPI2;Q8WUH6 ABBA01053160;AC007541;AK001731;AK021783;AK022770;AK024021;AL117658;AMYH01004726;BC020522;CH471054;DB458911;NM_152261 AAH20522;ADQ32421;BAG50970;BAG51051;BAG51112;BAG51252;EAW97790;EAW97791;NP_689474;Q8WUH6 Hs.257664 1665955;1689117;1851005;2123792;2125917;2131366;2178933;5093332 A009L32;D12S2128;G32657;RH64940;RH68408;SGC35008;STS-N22841;WI-16699 FLJ11721;FLJ13959;MGC17943 OTTHUMP00000242615;OTTHUMP00000242616;OTTHUMP00000242617;OTTHUMP00000242619;OTTHUMP00000242620;UPF0444 transmembrane protein C12orf23;hypothetical protein LOC90488 protein-coding ENSG00000151135 28281 14462 VALIDATED 1606927 C12orf36 chromosome 12 open reading frame 36 12 12 12 p13.1 18672658 18678732 - 13415290 13420912 - 13523605 13529679 - 15489334;14702039;12477932;8889548;23377640 283422 F5GXY3;F5H3P8;Q495D7 ABBA01067858;AC022276;AK091129;AK307179;AMYH01004292;BC101220;BC101222;BC101223;BG421494;BU676022;CH471094;NR_036555 AAI01221;AAI01223;AAI01224;BAC03590;EAW96307;Q495D7 Hs.448717 1782626;2179959 RH48049;SHGC-145169 FLJ33810;FLJ97127;MGC120140 putative uncharacterized protein C12orf36 miscrna ENSG00000180861 26598 08166 VALIDATED 1606773 C12orf39 chromosome 12 open reading frame 39 12 12 12 p12.1 26834644 26839598 + 21570523 21575477 + 21679256 21684210 + 6480464 12477932;18029348;19193193;19132080;17284679;16303743;15489334;14702039;21832049;22038051 80763 F5GXE5;Q9BT56 ABBA01067971;AC006559;AK027273;AK075342;AK311147;AK311217;AMYH01004319;BC004336;CH471094;CS051133;NM_030572 AAH04336;BAG51298;BAG52117;CAI72062;EAW96444;EAW96445;NP_085049;Q9BT56 Hs.130692 1701510 RH104388 MGC10946 NPQ;OTTHUMP00000240156;neuropeptide Q;spexin protein-coding 28139 14405 PROVISIONAL 1606924 C12orf40 chromosome 12 open reading frame 40 12 12 12 q12 38824188 38919753 + 38306239 38401983 + 40019972 40115716 + 14702039;12477932 283461 Q86WS4 ABBA01049534;ABBA01049535;ABBA01049536;ABBA01049537;ABBA01049538;AC121336;AC125491;AK097445;AL705293;AMYH01004390;BC038754;BC048120;BI461967;CH471111;NM_001031748 AAH38754;AAH48120;BAC05057;EAW57808;EAW57809;EAW57810;NP_001026918;Q86WS4 Hs.648205 1671906 DXS7407 FLJ40126 OTTHUMP00000164934;OTTHUMP00000164935;hypothetical protein LOC283461;uncharacterized protein C12orf40 protein-coding ENSG00000180116 26846 08806 VALIDATED 1322478 C12orf4 chromosome 12 open reading frame 4 12 12 12 p13.3 6218946 6269682 - 4467162 4517898 - 4596901 4647637 - 6480464 15489334;20558539;12477932;11062477;21139048;21890473;21906983 57102 F5GXX6;F5H271;F5H744;H0YGS6;Q9NQ89 ABBA01048764;AC005832;AC008012;AC092826;AJ272205;AK024811;AK074479;AL834377;AMYH01004196;AMYH01004197;BC016908;BX641128;CH471116;NM_020374 AAH16908;ADZ15508;CAC01126;CAD39040;CAE46058;EAW88845;EAW88846;NP_065107;Q9NQ89 Hs.302977 1665600;1674974;1682097;2168235;2191159 MARC_15597-15598:1013621652:1;RH66493;WI-15553;WI-17772;WI-17773 FLJ21158;FLJ23899 OTTHUMP00000238409;OTTHUMP00000238410;hypothetical protein LOC57102;uncharacterized protein C12orf4 protein-coding ENSG00000047621 1184 12609 PREDICTED 1602213 C12orf44 chromosome 12 open reading frame 44 12 12 12 q13.13 51266432 51273953 + 50750025 50757546 + 52463758 52471279 + 6480464 19287211;15342556;14702039;12477932;16712791;19597335;20562859;21900206;21139048;21906983 60673 F8VQD9;F8VVA0;H3BMZ4;Q9BSB4 ABBA01031626;AC025259;AF218031;AK021835;AMYH01004471;BC005151;BC009937;BP309508;CB137838;CH471111;NM_001098673;NM_021934 AAG17273;AAH05151;AAH09937;BAB13907;EAW58229;EAW58230;NP_001092143;NP_068753;Q9BSB4 Hs.9911 2134075;2168807 D12S1180E;D12S2008 ATG101;FLJ11773 Atg13-interacting protein;OTTHUMP00000241687;OTTHUMP00000241688;OTTHUMP00000241689;autophagy-related protein 101 protein-coding ENSG00000123395 25679 08566 615089 VALIDATED 1606876 C12orf42 chromosome 12 open reading frame 42 12 12 12 q23.2 103359877 103553591 - 102219863 102413879 - 103695733 103889749 - 20379614;16344560;15489334;14702039;12477932;20659153;21878436 374470 F8VV63;F8VX61;F8W1Y6;Q96LP6 AA992269;ABBA01053216;ABBA01053217;ABBA01053218;ABBA01053219;AC084364;AC090000;AC126176;AK058052;AMYH01004706;AMYH01004707;BC039352;BC044617;BC117392;BC117394;BI830750;CH471054;DB027973;DB045383;HY002043;HY015666;HY193513;NM_001099336;NM_001278419;NM_001278420;NM_198521;NR_103526 AAH44617;AAI17393;AAI17395;ADR83362;BAB71641;EAW97704;EAW97705;EAW97706;EAW97707;EAW97708;EAW97709;NP_001092806;NP_001265348;NP_001265349;NP_940923;Q96LP6 Hs.534649 1697698;1718437 RH102365;RH123234 FLJ25323;MGC43592;MGC57409 OTTHUMP00000242560;OTTHUMP00000242657;hypothetical protein LOC374470;uncharacterized protein C12orf42 protein-coding ENSG00000179088 24729 13393 VALIDATED 1602859 C12orf49 chromosome 12 open reading frame 49 12 12 12 q24.22 116783149 116805394 - 115637979 115660226 - 117153596 117175843 - 6480464 12477932;19322201 79794 F5H6Y2;F8VPB4;F8VVN2;H0YHS8;Q9H741 ABBA01020022;AC090013;AC125603;AK025068;AK222983;AK298857;AK309652;AMYH01004779;BC019843;CH471054;NM_024738 AAH19843;BAB15058;BAD96703;BAH12886;EAW98088;EAW98089;NP_079014;Q9H741 Hs.592011 1681302 RH65029 FLJ21415 OTTHUMP00000240981;UPF0454 protein C12orf49;hypothetical protein LOC79794 protein-coding ENSG00000111412 26128 07962 PREDICTED 1603965 C12orf43 chromosome 12 open reading frame 43 12 12 12 q 121076267 121090198 - 119925231 119938683 - 121440848 121454300 - 6480464 18940312;17081983;15489334;14702039;12477932;9110174;8619474;8125298;19198612;21203500;21044950;22939635 64897 E7ENF1;F5H2A0;F5H3K2;F5H7W8;F5H8B7;F6TFQ5;G5EA44;H0YF83;H0YGK4;Q96C57 ABBA01020149;AC079602;AK022510;AK222630;AK225162;AK299170;AK301566;AK307971;AMYH01004807;BC014661;CH471054;NM_022895 AAH14661;BAB14068;BAD96350;BAG61216;BAG63061;EAW98229;EAW98230;EAW98231;EAW98232;EAW98233;NP_075046;Q96C57 Hs.528671 5022383 ECD04345 FLJ12448 OTTHUMP00000240207;OTTHUMP00000240208;OTTHUMP00000240209;OTTHUMP00000240210;OTTHUMP00000240211;OTTHUMP00000240212;OTTHUMP00000240213;hypothetical protein LOC64897;uncharacterized protein C12orf43 protein-coding ENSG00000157895 25719 07771 PROVISIONAL 1606744 C12orf45 chromosome 12 open reading frame 45 12 12 12 q23.3 105044774 105053181 + 103904228 103912635 + 105380098 105388505 + 6480464 15489334;12477932;17643375 121053 J3KN91;Q8N5I9 ABBA01053189;AC090051;AMYH01004718;BC032326;BG829346;CH471054;NM_152318 AAH32326;ABM82575;ABM85764;EAW97754;NP_689531;Q8N5I9 Hs.295563 MGC40397 OTTHUMP00000242209;OTTHUMP00000242210;hypothetical protein LOC121053;uncharacterized protein C12orf45 protein-coding 28628 17556 VALIDATED 1605567 C12orf50 chromosome 12 open reading frame 50 12 12 12 q21.32 88041830 88091190 - 86897947 86947307 - 88373816 88423176 - 14702039;12477932;20379614;17207965;22632162 160419 F8VSD7;F8VXH4;G3V208;Q8NA57 ABBA01053428;AC090060;AC091516;AK093140;AL833338;AMYH01004646;BC038413;BC062424;CH471054;HC006980;NM_152589 AAH38413;AAH62424;ADQ32974;BAC04071;CBH19295;EAW97406;EAW97407;EAW97408;NP_689802;Q8NA57 Hs.112930 1715463;5015609;5016403;5022637 D11S2766;D11S3026;G02304;RH120896 FLJ35821 OTTHUMP00000242331;OTTHUMP00000242332;OTTHUMP00000242333;hypothetical protein LOC160419;uncharacterized protein C12orf50 protein-coding ENSG00000165805 26665 08764 PROVISIONAL 1602853 C12orf52 chromosome 12 open reading frame 52 12 12 12 q24.13 113250379 113256943 + 112107938 112114502 + 113623555 113630119 + 6480464 14702039;12477932;9110174;8619474;21102556;17207965;8125298;21832049 84934 F8VRG5;Q96K30 ABBA01019949;AC089999;AK027733;AK027741;AK075358;AK123762;AK222908;AMYH01004758;AMYH01004759;AY007158;BC022092;CH471054;NM_032848 AAH22092;ADQ31897;BAB55328;BAB55333;BAC11568;BAD96628;BAG53956;EAW98041;EAW98042;NP_116237;Q96K30 Hs.524762 1650071;2182546 RH45703;STS-H97765 FLJ14827;RITA OTTHUMP00000241775;OTTHUMP00000241776;OTTHUMP00000241778;RBP-J interacting and tubulin associated;RBPJ-interacting and tubulin-associated protein;hypothetical protein LOC84934 protein-coding ENSG00000139405 25925 08606 PROVISIONAL 1603180 C12orf55 chromosome 12 open reading frame 55 12 12 12 q23.1 96549428 96706938 + 95407519 95546701 + 96883388 97022570 + 14702039;12477932;20966902 144535 E9PJL5;G3V4Y4;H0YIB5;I3L078;Q96N23;R4GNI2 ABBA01053310;ABBA01053311;AC007513;AC008118;AK056076;AK091789;AK307646;AMYH01004682;BC041426;XM_001715090;XM_001717983;XM_003960521 BAB71089;Q96N23;XP_001715142;XP_001718035;XP_003960570 Hs.535389;Hs.730039 1337030;1722811;1774980;1794156;1794158;1794160;2125993;2170126;2185518;5015607;5115198;5118342;5118412 D11S2442;D11S3014;D11S3206;D11S3270;D12S1073;D12S1716;D12S1982;D12S2105;D12S2108;G60347;PMC310794P5;PMC310794P6;PMC310794P7 C12orf63;FLJ31514;FLJ34470 chromosome 12 open reading frame 55;hypothetical protein LOC144535;uncharacterized protein C12orf55 protein-coding 26456 MODEL 1317526 C12orf5 chromosome 12 open reading frame 5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008] 12 12 p13.3 4300620 4339455 + 4430359 4469194 + 6480464;6907045 16381901;11256614;18945750;16839880;16839873;16140933;16012775;15489336;15489334;12477932;11076863;11062477;21057531;19684603;19713938;21832049;22782351;22939629;22887998;23185017;21761199;21864926;19471022;21820150;21139048;21890473;21906983;21988832;23263487;23377640 57103 Q9NQ88 ABBA01048765;ABBA01048766;AC006122;AC008012;AJ272206;AK313226;AMYH01004196;AY425618;BC012340;BX098281;CH471116;DB480618;NM_020375 AAH12340;AAQ98969;BAG36037;CAC01127;CAL37493;EAW88849;EAW88850;NP_065108;Q9NQ88 Hs.504545 1336295;1652360;1657959;1777182;2133985;5014563;5016478;5022200;5022588 D12S1725;D5S1597E;G41261;G41262;GDB:434012;L17676;L18426;SHGC-32311;STS-N39260 FR2BP;TIGAR OTTHUMP00000237991;TP53-induced glycolysis and apoptosis regulator;fructose-2,6-bisphosphatase TIGAR;fructose-2,6-bisphosphate 2-phosphatase;probable fructose-2,6-bisphosphatase TIGAR;transactivated by NS3TP2 protein APPROVED protein-coding 1185 12610 610775 REVIEWED 1603368 C12orf56 chromosome 12 open reading frame 56 12 12 12 q14.2 64326691 64449194 - 62947030 63070612 - 64660763 64784345 - 12477932;20379614 115749 F5H4K5;H0YGI1;Q8IXR9 ABBA01026604;ABBA01026605;ABBA01026606;ABBA01026607;ABBA01026608;ABBA01026609;ABBA01026610;AC012158;AC135279;AMYH01004543;AMYH01004544;AMYH01004545;AMYH01004546;AMYH01004547;BC014352;BC015121;BC039369;BX089271;NM_001099676;NM_001170633 AAH39369;NP_001093146;NP_001164104;Q8IXR9 Hs.535190 OTTHUMP00000239446;OTTHUMP00000239447;hypothetical protein LOC115749;uncharacterized protein C12orf56 protein-coding ENSG00000185306 26967 VALIDATED 1606175 C12orf54 chromosome 12 open reading frame 54 12 12 12 q13.11 47672318 47686326 + 47163290 47176434 + 48876286 48890297 + 15489334;12477932 121273 C9IYT5;H0YIT5;Q6X4T0 ABBA01031481;AC089987;AMYH01004432;AY255793;AY255794;BC031670;BF510008;BQ429029;CH471111;HC007156;NM_152319 AAH31670;AAP15250;AAP15251;CBH19383;EAW57984;EAW57985;EAW57986;NP_689532;Q6X4T0 Hs.98202 1682243;1714429 RH120207;RH92571 HSD-29;HSD-30;MGC35033 OTTHUMP00000242624;hypothetical protein LOC121273;uncharacterized protein C12orf54 protein-coding ENSG00000177627 28553 14596 VALIDATED 1603337 C12orf63 chromosome 12 open reading frame 63 12 12 12 q23.1 96707785 96825069 + 95565884 95683179 + 97041753 97159048 + 6480464 16344560;14702039;20379614;21890473 374467 Q6ZTY8 ABBA01053309;ABBA01053310;AC007564;AC008118;AK126100;AMYH01004682;AMYH01004683;CH471054;DB225896;XM_003118942;XM_003846561;XM_003960516 AAI48604;AAI53168;BAC86439;EAW97575;Q6ZTY8;XP_003118990;XP_003846609;XP_003960565 Hs.436197 1724305;1787824;1794162;2117458;5114476 D12S1055;PMC310794P9;RH119073;SHGC-173507;SHGC-17530 FLJ44112 chromosome 12 open reading frame 63;putative uncharacterized protein C12orf63 protein-coding 24777 13484 MODEL 1606929 C12orf61 chromosome 12 open reading frame 61 12 12 12 q14.1 62664078 62665761 - 61281798 61283481 - 62995531 62997214 - 6480464 12477932 283416 Q8N7H1 ABBA01026631;AC026115;AC048341;AK098456;AMYH01004538;BC038738;BC136288;CH471054;NM_175895 AAH38738;AAI36289;BAC05309;EAW97110;NP_787091;Q8N7H1 Hs.375881 1854682;5493695 RH46200;UniSTS:490402 FLJ25590 OTTHUMP00000242557;putative uncharacterized protein C12orf61 protein-coding ENSG00000221949 26364 08070 PREDICTED 1606749 C12orf57 chromosome 12 open reading frame 57 12 12 12 p13.31 8671824 8673786 + 6923464 6925426 + 7053203 7055165 + 6480464 15489334;12477932;9445485;9074930;19204726;22939629;21890473;22505724;9224939 113246 F5GXW5;Q99622 ABBA01017669;AK310266;AK311912;AMYH01004212;BC009925;CH471116;NM_138425;U47924 AAB51329;AAH09925;BAG34853;EAW88705;NP_612434;Q99622 Hs.405913 2137943;2165198 RH11235;SHGC-31976 C10;FLJ17308;GRCC10;TEMTYS C10;OTTHUMP00000239933;OTTHUMP00000239934;OTTHUMP00000239935;likely ortholog of mouse gene rich cluster, C10;protein C10 protein-coding ENSG00000111678 29521 13609 218340;615140 PROVISIONAL 2302460 C12orf71 chromosome 12 open reading frame 71 12 12 12 p11.23 32380143 32381608 - 27125257 27126722 - 27233990 27235455 - 11181995 728858 A8MTZ7 ABBA01068044;AC092747;AMYH01004351;CH471094;NM_001080406 A8MTZ7;EAW96548;NP_001073875 Hs.334003 OTTHUMP00000240652;hCG1794298;hypothetical protein LOC728858;uncharacterized protein C12orf71 protein-coding ENSG00000214700 34452 INFERRED 1606152 C12orf60 chromosome 12 open reading frame 60 12 12 12 p12.3 20101493 20121778 + 14847773 14868059 + 14956506 14976792 + 6480464 15489334;12477932;14702039;23449627 144608 Q5U649 ABBA01067886;AC007655;AK056213;AK289942;AMYH01004303;BC015546;BC029443;BC038836;CH471094;NM_175874 AAH15546;AAH29443;AAH38836;BAF82631;EAW96330;NP_787070;Q5U649 Hs.659951 1698388;2143264;2190885;5022200 G41310;L18426;MARC_10307-10308:998934573:1;RH102736 FLJ31651;MGC47869 OTTHUMP00000236005;hypothetical protein LOC144608;uncharacterized protein C12orf60 protein-coding 28726 11358 VALIDATED 1603179 C12orf66 chromosome 12 open reading frame 66 12 12 12 q14.2 64251311 64281090 - 62872686 62902343 - 64586419 64616076 - 6480464 14702039;12477932;11752456 144577 F5H2Q3;J3KNH0;Q96MD2 ABBA01026612;AC012158;AK057111;AK095383;AK129933;AMYH01004542;AMYH01004543;AV653957;BC036246;BC071634;CH471054;NM_152440;W44639 AAH71634;BAB71367;EAW97124;NP_689653;Q96MD2 Hs.505871 1680555;1700006;2115694;2117039;2171642;5015404;5015861;5015879;5024039;5024413;5024756;7185938 A008W05;D10S16;D16S325;GDB:314949;L17705;L17877;RH103615;RH80030;RH98970;SHGC-32073;WI-18097 FLJ32549 OTTHUMP00000239362;OTTHUMP00000239363;OTTHUMP00000239364;UPF0536 protein C12orf66;hypothetical protein LOC144577 protein-coding ENSG00000174206 26517 08727 VALIDATED 1605601 C12orf65 chromosome 12 open reading frame 65 This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 12 12 12 q24.31 123309422 123334084 + 122283416 122308459 + 123717844 123742506 + 6480464;7240710 20598281;14702039;12477932;22688947;17207965;21832049;23188110;22821833;21988832 91574 F5GWJ6;F5H4X5;F5H5V8;Q9H3J6 ABBA01060430;ABBA01060431;AC068768;AC073857;AF061733;AK025908;AK095982;AMYH01004837;BC018145;BC020885;BC062329;BI850864;BU507560;CH471054;NG_027517;NM_001143905;NM_001194995;NM_152269 AAG43144;AAH18145;AAH20885;AAH62329;ADQ32685;BAC04665;EAW98395;EAW98396;NP_001137377;NP_001181924;NP_689482;Q9H3J6 Hs.319128 1647433;1673153;2123703;5015619;5022578;5024039;5037552;5109281 D11S3114;D12S1445;D16S325;D1S1423;D1S1425;D8S2279;RH45719;STS-W93806 COXPD7;FLJ38663;SPG55 OTTHUMP00000239631;probable peptide chain release factor C12orf65, mitochondrial APPROVED protein-coding ENSG00000130921 26784 08791 613541;613559;615035 REVIEWED 1605794 C12orf68 chromosome 12 open reading frame 68 12 12 12 q13.11 47375335 47377425 + 46863666 46865976 + 48577366 48579709 + 11256614;16381901;15489336;14702039;12477932;21145461;11076863;20379614 387856 Q52MB2 ABBA01031477;AC074029;AK056003;AK056783;AMYH01004429;BC036801;BC049387;CH471111;DB483736;NM_001013635 AAH36801;BAB71071;BAB71283;CAL37738;EAW57977;NP_001013657;Q52MB2 Hs.251699 1849252;2183166 D12S1929;WI-21851 OTTHUMP00000242442;hypothetical protein LOC387856;uncharacterized protein C12orf68 protein-coding ENSG00000177875 33749 18375 VALIDATED 2303668 C12orf75 chromosome 12 open reading frame 75 12 12 12 q23.3 105388672 105429552 + 104154183 104289427 + 105724414 105765296 + 6480464 14702039;12477932;11890990;19322201;19531736;23419831 387882 F8VQD4;F8VXK5;F8W1S6;Q8TAD7 AB735446;AB735447;ABBA01053184;AC011313;AC078874;AC127900;AJ311377;AJ311378;AK056999;AMYH01004719;BC013920;BC045812;BC061920;BC067897;BC126980;BC127012;BC131552;BQ021766;CH471054;NM_001145199 AAH13920;AAH45812;AAH61920;AAH67897;AAI26981;AAI27013;BAM34484;CAC85391;CAC85392;EAW97765;EAW97766;NP_001138671;Q8TAD7 Hs.368938 1336679;1663085;5126705 D12S1597;SHGC-32919;STS-W19229 AGD3;MGC148100;MGC149157;OCC-1;OCC1 OTTHUMP00000242518;OTTHUMP00000242521;adipogenesis down-regulated 3;hypothetical protein LOC387882;overexpressed in colon carcinoma 1 protein;overexpressed in colon carcinoma-1;putative overexpressed in colon carcinoma-1 protein variant C;uncharacterized protein LOC387882 protein-coding ENSG00000235162 35164 17368 VALIDATED 2301389 C12orf73 chromosome 12 open reading frame 73 12 12 12 q23.3 104007750 104014765 - 102868647 102874911 - 104343980 104350993 - 14702039;12477932 728568 F8VQR3;F8VS87;F8VXG8;G3V1W1;Q69YU5 AA563681;ABBA01053210;AC078819;AK024037;AL359596;AMYH01004710;BC039467;BC044618;BC063467;BC073939;CH471054;FB746598;FB746692;NM_001135570 CAH10667;CAT04625;CAT04659;EAW97726;NP_001129042;Q69YU5 Hs.42547 1682283;1736258;2116292;2176613 D12S1216E;RH91861;STS-H98648;WI-22235 DKFZp547P055;FLJ13975 OTTHUMP00000242869;OTTHUMP00000242874;hypothetical protein LOC728568;uncharacterized protein C12orf73 protein-coding ENSG00000204954 34450 VALIDATED 1348423 C12orf9 chromosome 12 open reading frame 9 12063392 93669 AF393503 15949 2303686 C12orf74 chromosome 12 open reading frame 74 12 12 12 q22 92767866 92773448 + 91620971 91626196 + 93096619 93102325 + 12477932;16344560 338809 Q32Q52 ABBA01053392;AC016136;AMYH01004657;BC043363;BC043364;BC105728;BC107813;CH471054;DB196554;NM_001037671;NM_001178097 AAI05729;AAI07814;EAW97470;NP_001032760;NP_001171568;Q32Q52 Hs.326303 MGC125584 OTTHUMP00000242833;OTTHUMP00000242834;hypothetical protein LOC338809;uncharacterized protein C12orf74 protein-coding ENSG00000214215 27887 VALIDATED 1604429 C12orf76 chromosome 12 open reading frame 76 12 12 12 q24.11 110103217 110129734 - 108963366 108989883 - 110478983 110505500 - 6480464 14702039;12477932 400073 F8VV97;F8VYN6;F8VZK6;F8W0P4;F8W117;Q8N812 ABBA01005085;ABBA01005086;AC007546;AK021447;AK097461;AMYH01004738;BC041968;BC046185;BC133010;BC133012;NM_207435 AAI33011;AAI33013;BAC05063;NP_997318;Q8N812 Hs.44817 2145120;2148959 SHGC-57922;WI-14197 FLJ11385;FLJ40142 OTTHUMP00000240760;hypothetical protein LOC400073;uncharacterized protein C12orf76 protein-coding ENSG00000174456 33790 13443 PREDICTED 1601909 C13orf35 chromosome 13 open reading frame 35 13 13 13 q34 94126686 94164130 + 112349359 112386812 + 113301358 113338811 + 6480464 20858683 400165 Q6ZP68 ABBA01019850;AK129953;AL139384;AMYH01005388;CH471085;NM_207440 BAC85256;EAX09168;NP_997323;Q6ZP68 Hs.591213 1705772;1799226;1800278;1806840;1809974;1810206;1812116;1813192;1813684;1814000;1814376;1814504;1815020;1818250;1820014;1822540;1824348;1826280;1826352;1827068;1827174;1828090;1829078;1830086;1831230;1832778;1833392;1835274;1838652;1838942;1841630;1843376;1844248;1891500;1891502;1891504;1891506;1891508;1891510;1891512;1891514;1891516;1891518;1891520;1891522;1891524;1891526;1891528;1891530;1891532;1891534;1891536;1891538;1891540;1891542;1891544;1891546;1891548;1891550;1891552;1891554;1891556;1891558;1891560;1891562;1891564;1891566;1891568;1891570;1891572;1891574;1891576;1891578;1891580;1891582;1891584;1891586;1891588;1891590;1891592;1891594;1891596;1891598;1891600;1891602;1891604;1891606;1891608;1891610;1891612;1891614;1891616;1891618;1891620;1891622;1891624;1891626;1891628;1891630;1891632;1891634;1891636;1891638;1891640;1891642;1891644;1891646;1891648;1891650;1891652;1891654;1891656;1891658;1891660;1891662;1891664;1891666;1891668;1891670;1891672;1891674;1891676;1891678;1891680;1891682;1891684;1891686;1891688;1891690;1891692;1891694;1891696;1891698;1891700;1891702;1891704;1891706;1891708;1891710;1891712;1891714;1891716;1891718;1891720;1891722;1891724;1891726;1891728;1891730;1891732;1891734;1891736;1891738;1891740;1891742;1891744;1891746;1891748;1891750;1891752;1891754;1891756;1891758;1891760;1891762;1891764;1891766;1891768;1891770;1891772;1891774;1891776;1891778;1891780;1891782;1891784;1891786;1891788;1891790;1891792;1891794;1891796;1891798;1891800;1891802;1891804;1891806;1891808;2201888;2201890;2201892;2201894;2201896;2201898;2201900;2201902;2201904;2201906;2201908;2201910;2201912;2201914;2201916;2201918;2201920;2201922;2201924;2201926;2201928;2201930;2201932;2201934;2201936;2201938;2201940;2201942 ECD00461;ECD00997;ECD04385;ECD05979;ECD06095;ECD07063;ECD07616;ECD07865;ECD08027;ECD08217;ECD08282;ECD08541;ECD10182;ECD11079;ECD12358;ECD13272;ECD14252;ECD14289;ECD14649;ECD14702;ECD15168;ECD15666;ECD16176;ECD16751;ECD17530;ECD17839;ECD18792;ECD20500;ECD20650;ECD22012;ECD22896;ECD23337;REN16454;REN16455;REN16456;REN16457;REN16458;REN16459;REN16460;REN16461;REN16462;REN16463;REN16464;REN16465;REN16466;REN16467;REN16468;REN16469;REN16470;REN16471;REN16472;REN16473;REN16474;REN16475;REN16476;REN16477;REN16478;REN16479;REN16480;REN16481;REN16482;REN16483;REN16484;REN16485;REN16486;REN16487;REN16488;REN16489;REN16490;REN16491;REN16492;REN16493;REN16494;REN16495;REN16496;REN16497;REN16498;REN16499;REN16500;REN16501;REN16502;REN16503;REN16504;REN16505;REN16506;REN16509;REN16510;REN16511;REN16512;REN16513;REN16514;REN16515;REN16516;REN16517;REN16518;REN16519;REN16520;REN16521;REN16522;REN16523;REN16524;REN16525;REN16526;REN16527;REN16528;REN16529;REN16530;REN16531;REN16532;REN16533;REN16534;REN16535;REN16536;REN16537;REN16538;REN16539;REN16540;REN16541;REN16542;REN16544;REN16546;REN16547;REN16548;REN16549;REN16550;REN16551;REN16552;REN16553;REN16554;REN16555;REN16556;REN16557;REN16558;REN16559;REN16560;REN16561;REN16562;REN16563;REN16564;REN16565;REN16566;REN16567;REN16568;REN16569;REN16570;REN16571;REN16572;REN16573;REN16574;REN16575;REN16576;REN16577;REN16578;REN16579;REN16580;REN16581;REN16582;REN16583;REN16584;REN16587;REN16588;REN16589;REN16590;REN16591;REN16592;REN16593;REN16594;REN16595;REN16596;REN16597;REN16598;REN16599;REN16600;REN16601;REN16602;REN16603;REN16604;REN16605;REN16606;REN16607;REN16608;REN16609;REN16610;REN16611;REN16612;REN16613;REN16614;SHGC-78674;stSG621614;stSG621615;stSG621616;stSG621617;stSG621618;stSG621619;stSG621620;stSG621621;stSG621622;stSG621623;stSG621624;stSG621625;stSG621626;stSG621628;stSG621629;stSG621630;stSG621631;stSG621632;stSG621633;stSG621634;stSG621635;stSG621636;stSG621637;stSG621638;stSG621639;stSG621640;stSG621641;stSG621642 FLJ26443 OTTHUMP00000178855;putative uncharacterized protein C13orf35 protein-coding ENSG00000197595 33793 16926 PREDICTED 3479035 C12orf77 chromosome 12 open reading frame 77 12 12 12 p12.1 30293267 30297281 - 25037625 25041640 - 25146358 25150373 - 12477932 196415 C9JDV5;G3V1V6 ABBA01068014;AC023510;AMYH01004338;BC035880;BC046192;BC062789;CH471094;NM_001101339 C9JDV5;EAW96500;NP_001094809 Hs.434453 OTTHUMP00000243153;putative uncharacterized protein C12orf77 protein-coding ENSG00000226397 27282 VALIDATED 4889302 C13orf41 chromosome 13 open reading frame 41 13 13 q12.13 6754627 6779557 + 25691059 25716046 + 20379614;9294218 100288679 O00249 AL359757;U82306;U82311;XM_003403512;XM_003403658 AAB72230;AAB72232;CAH70806;O00249;Q5VX57;XP_003403560;XP_003403706 Hs.550143 1737429 D13S998 chromosome 13 open reading frame 41 protein-coding 39276 MODEL 1343911 C14orf113 chromosome 14 open reading frame 113 14 q32.2 94999563 95000262 - 54792 Q9NXV8 AK000041 BAA90900;Q9NXV8 Hs.675410 FLJ20034 protein-coding 20216 6901146 C13orf45 chromosome 13 open reading frame 45 13 q22.2 76445174 76457948 + 14702039 729420 F2Z398 ABBA01021651;AK092698;AL359392;AMYH01005215;NM_001257995 BAC03949;F2Z398;NP_001244924 Hs.586820 1737461;2189819;2189843 214f7REV;283a3FWD;D13S1016 uncharacterized protein C13orf45;uncharacterized protein LOC729420 protein-coding ENSG00000178734 44370 VALIDATED 7245856 C12orf79 chromosome 12 open reading frame 79 12477932;14702039 256021 F8VRL5;F8VVU4;G3V211 ABBA01053398;ABBA01053399;AC025164;AC123512;AF086029;AK055439;AMYH01004654;BC029844;BC107595;BC118985;BC122534;CA438667;CH471054;NM_001256373;NM_001256374;NM_001256375;NR_046159;NR_046160 EAW97463;NP_001243302;NP_001243303;NP_001243304 Hs.651357 1673364 RH78863 uncharacterized protein LOC256021 protein-coding ENSG00000257242 27409 VALIDATED 1352890 C14orf144 chromosome 14 open reading frame 144 14 q32.33 103775312 103780535 + 145195 Q96I85 AL590079;BC007749;XM_930354;XM_941225 AAH07749;Q96I85;XP_935447;XP_946318 Hs.679805 protein-coding 20358 7247020 C12orf80 chromosome 12 open reading frame 80 11181995;12477932;16344560 283403 ABBA01031628;AC021066;AMYH01004471;BC038743;BC117348;BC126393;CH471111;DB098376;DB339709;NM_001242696 EAW58238;NP_001229625 Hs.667179 uncharacterized protein LOC283403 protein-coding 27473 VALIDATED 1350524 C14orf16 chromosome 14 open reading frame 16 414762 19435 1350908 C14orf105 chromosome 14 open reading frame 105 14 14 14 q22.3 37986663 38010642 - 57006348 57030323 - 57936595 57960576 - 6480464 14702039;12477932;8125298;20379614 55195 E9PI50;E9PSE9;F5GWJ3;H0YES7;Q05C89;Q9NVL8 ABBA01018240;AK001512;AK223127;AK307238;AL161804;AL355834;AMYH01005753;BC028060;BC117405;BC143565;BC143566;BC143567;BC143568;BI760135;CH471061;NM_018168 AAH28060;AAI17406;AAI43567;AAI43568;ADR83122;BAA91732;BAD96847;EAW80706;EAW80707;NP_060638;Q9NVL8 Hs.659706 1706988;1726487;1774607;2145964;2186119 D8S370;G62623;RH46313;SHGC-56607;SHGC-80994 FLJ10650 OTTHUMP00000179017;OTTHUMP00000230653;OTTHUMP00000239180;hypothetical protein LOC55195;uncharacterized protein C14orf105 protein-coding ENSG00000100557 20189 12628 VALIDATED 1347248 C14orf164 chromosome 14 open reading frame 164 14 14 14 q11.2 3517267 3602270 + 22724385 22809408 + 23707127 23739568 + 11181995;12508121 100507650 A8MTL3;A8MVE6;G3V2N7;H0YJB3 ABBA01061317;ABBA01061318;AL049829;AL117258;AMYH01005603;CH471078;XM_003118918;XM_003119566;XM_003960547 A8MTL3;EAW66179;EAW66180;XP_003118966;XP_003119614;XP_003960596 1730024;1753775;2136544;2145495 D14S1430;D4S136;G36138;SHGC-89225 RING finger protein C14orf164;RING finger protein C14orf164-like;chromosome 14 open reading frame 164 protein-coding 20438 MODEL 1318068 C14orf151 chromosome 14 open reading frame 151 14 q32.33 104227003 104242191 + 12665801;12477932 84800 AL583722;BC006173;BX248757;CH471061;CR612331;NM_032714 AAH06173;CAD66564;EAW81872;NP_116103;Q86TR7;Q9BRM1 Hs.317821 MGC13251 protein-coding 20490 16611 1346081 C14orf142 chromosome 14 open reading frame 142 14 14 14 q32.12 73723243 73727465 - 92738990 92743212 - 93669237 93673459 - 6480464 15489334;12477932;22912744;22863883 84520 H0YJA8;Q9BXV9 ABBA01030435;AF277185;AL110118;AMYH01005965;BC021733;BC065216;BC107429;BC109390;BF131439;CH471061;NM_032490 AAH21733;AAH65216;AAI07430;AAI09391;AAK07544;EAW81519;EAW81520;NP_115879;Q9BXV9 Hs.20142 1651636;2123374 RH70184;STS-W90738 MGC104244;MGC133207;PNAS-127 OTTHUMP00000245675;OTTHUMP00000245676;hypothetical protein LOC84520;uncharacterized protein C14orf142 protein-coding ENSG00000170270 20356 16608 VALIDATED 1321865 C14orf1 chromosome 14 open reading frame 1 14 14 14 q24.3 56155336 56165643 - 75185884 75196912 - 76117233 76127538 - 6480464 10449901;11256614;16381901;16169070;15489336;15489334;12958361;12508121;12477932;11910120;11230166;11160377;11076863;11042152;10967139;10931946;16344560;23142642;21934552;21139048;21900206 11161 Q6FII3;Q86TW5;Q9UKR5 AA709128;ABBA01030697;AC007182;AF134159;AF136971;AF161406;AK311764;AL136658;AMYH01005860;BC002444;BX248022;CH471061;CR533443;DB030511;NM_007176 AAD51373;AAD54079;AAF28966;AAG49432;AAH02444;BAG34707;CAB66593;CAD62345;CAG38474;CAL38319;CAL38706;EAW81237;EAW81238;NP_009107;Q9UKR5 Hs.15106 1686790;1740639;2117883;5092672;5121853 A005P29;D14S1268;G32256;RH98534;SHGC-64295 ERG28;NET51 OTTHUMP00000246178;probable ergosterol biosynthetic protein 28 protein-coding 1187 05201 604576 VALIDATED 1318193 C14orf119 chromosome 14 open reading frame 119 14 14 14 q11.2 3427493 3432371 + 22634628 22639505 + 23564683 23569665 + 6480464 15489334;18029348;14702039;12477932;16169070;16344560;21906983 55017 Q9NWQ9 ABBA01061307;AF061731;AK000678;AK024794;AL117258;AMYH01005602;BC009645;BC056255;BC061637;CH471078;CR457248;DA605680;NG_030461;NM_017924 AAG43142;AAH09645;AAH56255;AAH61637;BAA91320;CAG33529;EAW66185;NP_060394;Q9NWQ9 Hs.525238;Hs.735365 1689261;5037552 D8S2279;RH8142 FLJ20671;FLJ21141;MGC74723 My028 protein;OTTHUMP00000164568;OTTHUMP00000246130;chromosome 14 open reading frame 119;uncharacterized protein C14orf119 protein-coding ENSG00000179933 20270 16595 VALIDATED 1350098 C14orf132 chromosome 14 open reading frame 132 14 14 14 q32.2 76561402 76615873 + 95575045 95630170 + 96505661 96560226 + 6480464 16344560;15489334;14702039;12477932;9110174;8619474;21697133 56967 Q9NPU4 AB621830;ABBA01048597;ABBA01048598;AF131832;AK001590;AK022021;AK025915;AK074462;AK313017;AL137190;AL390130;AMYH01005977;BC042922;BC043593;BC067267;CA434364;CH471061;DA328471;DA811354;NM_001252507 BAG35852;CAB99085;EAW81626;EAW81627;EAW81628;NP_001239436;Q9NPU4 Hs.6434;Hs.733033 1658192;1689420;1739413;1757259;1774885;2117160;2137893 D14S823E;D14S856;RH11213;RH91762;SHGC-144677;SHGC-53366;T16162 C14orf88;DKFZp761F2014;FLJ10728;FLJ93483 putative uncharacterized protein C14orf132;uncharacterized protein C14orf132 protein-coding 20346 16603 VALIDATED 1317046 C14orf169 chromosome 14 open reading frame 169 14 14 14 q24.3 54021934 54024395 + 73027397 73029858 + 73957644 73960105 + 737633;6480464 12477932 15489334;14742713;14702039;22750859;17308053;19615732;19927124 79697 Q9H6W3 ABBA01030758;AC005280;AK025455;AK299994;AMYH01005845;AY390535;BC011350;BC071954;DA509240;NM_024644 AAH11350;AAH71954;AAR27292;BAB15138;BAG61814;NP_078920;Q9H6W3 Hs.509916 1644664;2122577;2128152;2177870;5021694 G38173;SHGC-56451;STS-Z40969;WI-22498;ksks225 FLJ21802;MAPJD;NO66;ROX 60S ribosomal protein L8 histidine hydroxylase;MYC-associated protein with JmjC domain;OTTHUMP00000233252;bifunctional lysine-specific demethylase and histidyl-hydroxylase NO66;histone lysine demethylase NO66;hsNO66;lysine-specific demethylase NO66;nucleolar protein 66;ribosomal oxygenase NO66 protein-coding 20968 12641 611919 VALIDATED 1323376 C14orf159 chromosome 14 open reading frame 159 14 14 14 q32.11 71628800 71740164 + 90650110 90761456 + 91580357 91691703 + 6480464 16381901;16344560;15790807;15489336;15489334;14702039;12975309;12477932;11230166;11076863;8125298;20877624;21832049 80017 E5RFT5;E5RFZ6;E5RGN8;E5RGP9;E5RHG2;E5RIL4;E5RIU5;E5RJ62;E5RJ87;E5RJD1;E5RJL7;E5RK14;E5RK56;G8JLP2;H0YB09;H0YB11;H0YB62;Q4LE40;Q9H7G0 AB210031;ABBA01030482;ABBA01030483;ABBA01030484;ABBA01030485;ABBA01030486;ABBA01030487;AK022564;AK023200;AK024603;AK091394;AK097262;AK097294;AK098752;AK123532;AK222531;AK308857;AL121784;AL135818;AL602721;AMYH01005949;AMYH01005950;AMYH01005951;AY358516;AY927602;BC009182;BC010614;BC065558;BX161393;BX247989;BX248060;BX248294;BX248782;BX537970;BX642394;BX647492;CH471061;CR457289;DA296867;DA641301;DB258432;DR003467;NM_001102366;NM_001102367;NM_001102368;NM_001102369;NM_024952 AAH09182;AAH10614;AAH65558;AAQ88880;BAB14102;BAB14458;BAB14932;BAC03653;BAD96251;BAE06113;BAG53449;BAG53908;CAD61880;CAD62323;CAD62356;CAD62622;CAD66589;CAD97934;CAG33570;CAL37996;EAW81441;EAW81442;EAW81443;EAW81444;NP_001095836;NP_001095837;NP_001095838;NP_001095839;NP_079228;Q7Z3D6 Hs.309849 1647912;1656146;1707860;1725667;2116596;2120358;2124729;2131831;2148092;2155528;2157778;2158154;2166271;2185680;5113238;5121488 D14S1287;D14S593;D14S765;G35495;G35613;G35745;G35833;G36152;G36221;G36227;G36279;G62042;RH75013;SHGC-82165;STS-AA010373;WI-19880 C14orf160;DKFZp686I02128;FLJ20950;FLJ39943;FLJ39975 OTTHUMP00000228069;OTTHUMP00000228070;OTTHUMP00000228075;OTTHUMP00000228079;OTTHUMP00000228082;OTTHUMP00000228083;OTTHUMP00000228084;OTTHUMP00000228087;OTTHUMP00000228088;OTTHUMP00000228091;UPF0317 protein C14orf159, mitochondrial;hypothetical protein LOC80017;uncharacterized protein LOC80017 protein-coding ENSG00000133943 20498 16612 VALIDATED 1351641 C14orf166B chromosome 14 open reading frame 166B 14 14 14 q24.3 57331332 57375219 + 76362630 76406302 + 77292725 77336645 + 6480464 16344560;12477932;20379614 145497 B4DX10;G3V356;G3V5M6;H7BXD0;Q0VAA2;Q9Y628 ABBA01030669;ABBA01030670;AF111169;AK058106;AK125722;AK301762;AMYH01005870;AMYH01005871;AMYH01005872;BC062799;BC121159;BC121160;BC143896;CH471061;DB337977;DC397584;NM_194287 AAD44363;AAD44364;AAI21160;AAI21161;BAC86259;BAG63222;EAW81265;NP_919263;Q0VAA2 Hs.147276 1341109;1700940;1754123;2156881;7186436 D14S263;G36225;RH104097;SHGC-132157 OTTHUMP00000196473;hypothetical protein LOC145497;uncharacterized protein C14orf166B protein-coding ENSG00000100565 23346 12621 VALIDATED 1603813 C14orf181 chromosome 14 open reading frame 181 14 14 14 q24.1 49320211 49321937 - 68331217 68332943 - 69261464 69263190 - 14702039;19430480;20378605;20379614 400223 AK097098;AL132986;BP397993;CH471061;NM_207442 AAI48846;AAI52899;BAC04948;EAW80970;NP_997325;Q8N8A1 Hs.655774 FLJ39779 putative uncharacterized protein C14orf181 protein-coding 33794 13439 VALIDATED 1602424 C14orf183 chromosome 14 open reading frame 183 14 14 14 q21.3 30417514 30426499 - 49620119 49629111 - 50550369 50559361 - 196913 Q8WXQ3 ABBA01018130;AF390030;AL109758;AMYH01005718;CH471078;NM_001014830 AAL58840;EAW65733;EAW65734;NP_001014830;Q8WXQ3 Hs.406934 1757163 SHGC-144589 OTTHUMP00000244572;putative uncharacterized protein C14orf183 APPROVED protein-coding ENSG00000168260 27285 18572 PREDICTED 1603812 C14orf180 chromosome 14 open reading frame 180 14 14 14 q32.33 85102104 85112230 + 104117101 104127228 + 105046056 105056183 + 6480464 14702039;12477932;23029450 400258 G3V2Z8;J3KNP8;Q8N912 ABBA01002996;AK095913;AK297818;AK309489;AMYH01006062;BC041103;BX161457;BX337634;BX927359;CH471061;NM_001008404 AAH41103;BAC04645;BAG60155;CAD61919;EAW81864;EAW81865;NP_001008404;Q8N912 Hs.153827 2124333 RH41919 C14orf77;FLJ38594;NRAC OTTHUMP00000028407;OTTHUMP00000244505;OTTHUMP00000244506;OTTHUMP00000244507;nutritionally-regulated adipose and cardiac enriched protein homolog;nutritionally-regulated adipose and cardiac-enriched;transmembrane protein C14orf180 protein-coding 33795 17383 PROVISIONAL 2859192 C14orf184 chromosome 14 open reading frame 184 14 14 14 q32.12 72087405 72090000 - 91108541 91111136 - 92038788 92041383 - 14702039 650662 AF318368;AK091161;AL133373;NM_001080113 AAL55875;NP_001073582;Q8WYT3 Hs.638530 FLJ33842;PP8961 putative uncharacterized protein C14orf184 protein-coding 37224 VALIDATED 1350643 C14orf22 chromosome 14 open reading frame 22 q12 387977 AI278049;N48783 Hs.143441 1776471 SHGC-37332 protein-coding 19827 1348871 C14orf26 chromosome 14 open reading frame 26 q21.1 8889549 400208 AA029430;AK125955 Hs.660501 2187138 STS-AA029430 protein-coding 19831 1312305 C14orf166 chromosome 14 open reading frame 166 14 14 14 q22.1 32323222 32338419 + 51525943 51541158 + 52456228 52471420 + 6480464 15147888;19152423;15635413;15489334;12477932;11507205;10810093;1602151;18685082;21145461;17643375;22863883;22939629;23022380;21900157;18029348;16950395;17043677;21823664;21987572;21628590;21139048;21890473;21906983;22354994;22053931;22174317;22505724 51637 G3V4C6;G3V4E7;H0YJB9;Q549M8;Q9Y224 ABBA01018162;AF087877;AF100755;AF151857;AK312004;AL358333;AMYH01005728;AY817175;BC001722;BF594675;CH471078;DQ525179;NM_016039 AAD34094;AAD43019;AAH01722;AAP97177;AAV54070;ABF56619;ABZ92335;BAG34942;EAW65659;EAW65660;EAW65661;NP_057123;Q9Y224 Hs.534457 1652108;1667507;1695112;1753993;2135439;5109761 D14S1197;D14S1201;D14S643E;G48195;HUM0S17C09;SHGC-132026 CGI-99;CGI99;CLE;CLE7;LCRP369;RLLM1 CLE7 homolog;OTTHUMP00000178984;OTTHUMP00000245063;RLL motif containing 1;UPF0568 protein C14orf166;homeobox prox 1 protein-coding ENSG00000087302 23169 16615 610858 VALIDATED 1352241 C14orf23 chromosome 14 open reading frame 23 14 14 14 q12 9107404 9129488 + 28311742 28317517 + 29241910 29264000 + 16341674;20802204 387978 F8VQW4;F8VZL1;Q86U37 ABBA01061377;AI204146;AL049777;AMYH01005630;BM839073;BX111279;BX248251;NR_026731;NR_026732 CAD62579;Q86U37 Hs.633254 1334576;1736448;2133081;2140526;2144955;5014051;5015619;5037552;5093298 A004D23;A009L03;D11S3114;D14S1042;D14S709E;D14S835;D8S2278;D8S2279;G32636 c14_5148 miscrna ENSG00000186960 19828 PREDICTED 1351913 C14orf30 chromosome 14 open reading frame 30 161342 BG121773 19838 1347710 C14orf38 chromosome 14 open reading frame 38 122847 P0C221 AB069994 1648155;1852486 AFM344VD1;G36035 19847 1606667 C14orf178 chromosome 14 open reading frame 178 14 14 14 q24.3 58265685 58274587 + 77296646 77305838 + 78227173 78236085 + 15489334;14702039;12477932 283579 F8WAD5;Q8N769 ABBA01030643;AC008372;AK098842;AMYH01005884;BC107147;BC113929;BC113986;NM_001173978;NM_174943 AAI13930;BAC05432;NP_001167449;NP_777603;Q8N769 Hs.375834 FLJ25976;MGC129942 OTTHUMP00000246317;hypothetical protein LOC283579;uncharacterized protein C14orf178 protein-coding ENSG00000197734 26385 08080 VALIDATED 1606666 C14orf177 chromosome 14 open reading frame 177 14 14 14 q32.2 79233707 79239856 + 98247703 98253850 + 99177950 99184103 + 12477932;14702039;15489334;17903294;23118302;23251661 283598 F5GYC5;Q52M58 ABBA01048573;AK098639;AL096821;AMYH01005984;BC093661;CH471061;DB523204;NM_182560 AAH93661;BAC05361;EAW81658;EAW81659;NP_872366;Q52M58 Hs.448754 5493237 UniSTS:485416 FLJ25773 OTTHUMP00000236739;OTTHUMP00000236740;chromosome 14 open reading frame 177;hypothetical protein LOC283598;putative uncharacterized protein C14orf177 protein-coding ENSG00000176605 26375 08075 PREDICTED 1347411 C14orf40 chromosome 14 open reading frame 40 319109 BE348955 19850 1342722 C14orf42 chromosome 14 open reading frame 42 161380 BF109853 19852 1346214 C14orf51 chromosome 14 open reading frame 51 338000 20098 1344999 C14orf41 chromosome 14 open reading frame 41 q24.3 14702039 440187 AK055876;BG654811 Hs.525443 c14_5527 protein-coding 19851 1344838 C14orf56 chromosome 14 open reading frame 56 14 q24.2 70746487 70827890 - 14702039 89919 AC004817;AC005476;AK024445;XM_001715980;XM_001716301;XM_001718387 BAB15735;Q9H7N3;XP_001716032;XP_001716353;XP_001718439 Hs.551210 1643818;1715777;2112920;2130197 D14S1418;G38302;G38312;RH119337 FLJ00035 protein-coding 20103 1348818 C14orf57 chromosome 14 open reading frame 57 11483580 317787 CH471061 EAW81073;Q9H367 chromosome 14 open reading frame 57 protein-coding 20104 1343204 C14orf60 chromosome 14 open reading frame 60 338001 20107 1348359 C14orf62 chromosome 14 open reading frame 62 317786 20109 1343261 C14orf67 chromosome 14 open reading frame 67 196860 20114 1353145 C14orf7 chromosome 14 open reading frame 7 378821 AI027773 19284 1603254 C14orf182 chromosome 14 open reading frame 182 14 14 14 q21.3 30315522 30341351 - 49518180 49543988 - 50448430 50474238 - 14702039;12477932;20379614 283551 A1A4T8;Q8NF59 ABBA01018127;AK090420;AK091232;AL117692;AMYH01005717;BC058283;BC128083;BC144351;CH471078;NM_001012706 A1A4T8;AAI28084;AAI44352;BAC03401;EAW65738;NP_001012724 Hs.660867 2181654;5037552 D8S2279;G35624 MGC149108 OTTHUMP00000236540;hypothetical protein LOC283551;uncharacterized protein C14orf182 protein-coding ENSG00000214900 27503 13397 VALIDATED 1354345 C14orf77 chromosome 14 open reading frame 77 145323 20124 1352128 C14orf2 chromosome 14 open reading frame 2 14 14 14 q32.33 84432866 84442144 - 103448380 103457619 - 104378625 104387903 - 1298632;6480464 9653160 17286855;16344560;15489334;12477932;11042152;16712791;21890473 9556 G3V556;P56378 ABBA01048397;ABBA01048398;ABBA01048399;AF054175;AF116639;AK309355;AK309499;AK310120;AK312099;AL132712;AMYH01006054;BC000429;BC001944;BC047289;BC063419;BX161388;CB127906;CH471061;DA526965;DQ426862;NM_001127393;NM_004894 AAC39909;AAF71062;AAH00429;AAH01944;BAG35035;CAD61878;EAW81849;EAW81850;EAW81851;EAW81852;NP_001120865;NP_004885;P56378 Hs.109052 1683659;1739807;2136695;2148098;2162277;5037552 D14S894E;D8S2279;G35411;G35502;RH75092;SHGC-36470 MP68;PLPM 6.8 kDa mitochondrial proteolipid;OTTHUMP00000246570;OTTHUMP00000246571;OTTHUMP00000246573;OTTHUMP00000246575 protein-coding ENSG00000156411 1188 05199 604573 VALIDATED 1353513 C14orf81 chromosome 14 open reading frame 81 153514 20128 1316923 C14orf28 chromosome 14 open reading frame 28 14 14 14 q21.2 25227762 25237715 + 44436257 44446210 + 45366507 45376460 + 6480464 16341674;15489334;12477932;20874815 122525 G3V4G8;Q4W4Y0 ABBA01018043;AF250395;AK126985;AL049870;AMYH01005701;BC030258;BC105030;BC105032;BM849739;BU624091;CH471078;NM_001017923 AAH30258;AAI05031;AAI05033;AAQ14261;EAW65796;NP_001017923;Q4W4Y0 Hs.82098 1663550 G23875 DRIP-1;DRIP1;c14_5270 OTTHUMP00000244259;OTTHUMP00000244260;dopamine receptor interacting protein 1;dopamine receptor-interacting protein 1;hypothetical protein LOC122525;uncharacterized protein C14orf28 protein-coding ENSG00000179476 19834 18544 VALIDATED 1352699 C14orf88 chromosome 14 open reading frame 88 91813 20135 1350418 C14orf39 chromosome 14 open reading frame 39 14 14 14 q23.1 40952829 41002917 - 59972428 60022502 - 60902674 60952764 - 15703187;14702039;12477932;23396134 317761 G3V257;G3V3U9;G3V493;H0YJQ0;Q8N1H7 ABBA01018281;ABBA01018282;AK098187;AL122057;AL132778;AL832219;AMYH01005766;BC125070;BC125071;CH471061;DB447488;EB388156;NM_174978 AAI25071;BAC05253;EAW80780;EAW80781;NP_777638;Q8N1H7 Hs.335754 MGC149706;Six6os1 OTTHUMP00000179039;protein SIX6OS1;six6 opposite strand transcript 1 protein-coding ENSG00000179008 19849 08504 VALIDATED 1354469 C14orf91 chromosome 14 open reading frame 91 51217 AF113687 20138 1352318 C14orf95 chromosome 14 open reading frame 95 338003 20158 1354202 C15orf13 chromosome 15 open reading frame 13 170479 18112 1351050 C14orf99 chromosome 14 open reading frame 99 14 106288309 106289452 - 317730 1680220 RH67822 20170 1351933 C14orf37 chromosome 14 open reading frame 37 14 14 14 q23.1 38520760 38668792 - 57540561 57688600 - 58470808 58618847 - 6480464 15489334;12477932;20379614 145407 Q86TY3 ABBA01018244;ABBA01018245;ABBA01018246;ABBA01018247;AK292513;AK292605;AK294599;AL049838;AL121579;AMYH01005756;BC013707;BC062772;BC146861;BX161411;BX161448;BX649130;CH471061;NM_001001872 AAH62772;AAI46862;BAF85202;BAF85294;BAG57786;CAD61887;CAD61913;EAW80712;EAW80713;NP_001001872;Q86TY3 Hs.535420 1708742;1710144;1855619;2114481;2129958;2162539 G35522;RH44675;RH69498;SHGC-36423;SHGC-81560;SHGC-81588 c14_5376 OTTHUMP00000245308;hypothetical protein LOC145407;uncharacterized protein C14orf37 protein-coding 19846 10712 PREDICTED 1353443 C15orf31 chromosome 15 open reading frame 31 8228263 L17330 21692 1353623 C14orf64 chromosome 14 open reading frame 64 14 14 14 q32.2 78447769 78500269 - 98391947 98444461 - 98391947 98444461 - 14702039;12477932 388011 H0YJ13;H0YJ23;H0YJ28;H0YJB0;H0YJM9;H0YJQ2 ABBA01048576;AK091668;AK097943;AL352981;AMYH01005982;BC043585;BX647564;JX073283;NR_015430 Hs.651477 1771118;5014051;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D14S138;D1S1423;D8S2278;D8S2279 miscrna ENSG00000246223 20111 PREDICTED 1322363 C14orf80 chromosome 14 open reading frame 80 14 14 14 q32.33 86009230 86017442 + 105028749 105036610 + 105956192 105965585 + 6480464 14702039;12477932;20562859;22505724 283643 C9IYA4;C9J1F2;C9J317;C9J6B2;C9JZ80;C9K0G6;F8VP51;Q86SX3 ABBA01008881;AK024506;AL928654;AMYH01006084;AW236560;BC016028;BX161477;BX248038;BX248074;BX248283;CH471061;NM_001134875;NM_001134876;NM_001134877;NM_001198983 AAH16028;ADZ15892;BAB15796;CAD61932;CAD62351;CAD62363;CAD62611;EAW81929;NP_001128347;NP_001128348;NP_001128349;NP_001185912;Q86SX3 Hs.720306 1661583;2144202;5022588 D5S1597E;RH48485;RH65096 MGC16771 OTTHUMP00000028466;OTTHUMP00000163912;OTTHUMP00000163913;OTTHUMP00000163914;OTTHUMP00000211269;OTTHUMP00000211271;OTTHUMP00000243774;OTTHUMP00000243775;hypothetical protein LOC283643;uncharacterized protein C14orf80 protein-coding ENSG00000185347 20127 12658 VALIDATED 1321239 C15orf26 chromosome 15 open reading frame 26 15 15 15 q25.1 58364060 58378932 + 79213699 79228571 + 81426644 81441516 + 737633;6480464 12477932 15489334;14702039 161502 H0YM05;H0YNS7;Q6P656 ABBA01060635;AC036196;AC068870;AK095934;AK302120;AK307565;AMYH01006852;AMYH01006853;BC062471;CH471136;NM_173528 AAH62471;BAC04653;BAG63498;EAW99102;EAW99103;EAW99104;NP_775799;Q6P656 Hs.130979 FLJ38615 hypothetical protein LOC161502;uncharacterized protein C15orf26 protein-coding ENSG00000156206 26782 08243 PREDICTED 5013871 C15orf38-AP3S2 C15orf38-AP3S2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 15 q 90373831 90456222 - 6480464 20967262;20585627;21874001 100526783 H0YL85;H0YMK0;H0YN38 ABBA01053027;ABBA01053028;ABBA01053029;ABBA01053030;ABBA01053031;AC018988;AC027176;AK000495;AMYH01006918;AMYH01006919;NM_001199058 NP_001185987 Hs.6734 1767579;2112970;2165051;2183352;5016851;5022200;5022578;5022651;5037552 D11S2921;D15S1443E;D1S1423;D8S2279;L18426;RH11326;RH80031;WI-15468;WI-20835 FLJ20488 C15orf38-AP3S2 fusion protein;OTTHUMP00000221441 APPROVED protein-coding 38824 VALIDATED 1316438 C14orf79 chromosome 14 open reading frame 79 14 14 14 q32.33 85506829 85516068 + 104523661 104532900 + 105452616 105461855 + 6480464 12477932;16112646;15489334;14702039;12508121;9110174;8619474 122616 F8VUA8;H0YHP6;J3KPM0;J3KRA4;Q96F83 ABBA01008850;AF038188;AK057249;AL512802;AMYH01006073;BC003539;BC011537;BC025175;BC137495;BC144671;CH471061;NM_174891 AAH03539;AAI37496;EAW81890;EAW81891;EAW81892;NP_777551;Q96F83 Hs.27183 1649982;1682850;1736422;5092954 A009C47;D14S683E;G32433;RH91739 OTTHUMP00000243899;OTTHUMP00000243900;hypothetical protein LOC122616;uncharacterized protein C14orf79 protein-coding 20126 12656 VALIDATED 1603158 C15orf37 chromosome 15 open reading frame 37 15 15 15 q25.1 57151419 57153502 + 78002168 78004249 + 80215113 80217196 + 6480464 14702039;12477932 283687 Q8NBB2;Q96AL6 ABBA01060616;AC015871;AK091107;AK092679;AMYH01006846;BC016975;BC101201;BC101202;BC101203;BG677098;NR_028330 AAH16975;AAI01202;AAI01203;AAI01204;BAC03584;Q8NBB2 Hs.722219 2220658;5037552 D8S2279;UniSTS:487268 FLJ33788 miscrna ENSG00000257028;ENSG00000259642 27521 14147 VALIDATED 1351477 C15orf27 chromosome 15 open reading frame 27 15 15 15 q24.2 53278201 53423401 + 74139354 74284359 + 76352299 76497304 + 6480464 16572171;16344560;15489334;15342556;14702039;12477932;22020278 123591 H0YNC9;H3BM28;Q2M3C6 ABBA01060546;AC091100;AK054866;AK058126;AK095509;AK308676;AMYH01006820;BC104953;BC104955;BP369654;BQ009353;BX398159;CH471136;DA090797;DA483185;DR007145;NM_152335 AAI04954;AAI04956;BAB71676;BAC04562;BAG51435;EAW99224;EAW99225;NP_689548;Q2M3C6 Hs.661411 1757883;1783176;1783220 SHGC-112468;SHGC-146755;SHGC-153295 FLJ30304;FLJ38190 OTTHUMP00000183577;transmembrane protein C15orf27 protein-coding ENSG00000169758 26763 08235 VALIDATED 1606452 C15orf32 chromosome 15 open reading frame 32 15 15 15 q26.1 69426755 69456192 + 90815911 90845351 + 93014907 93044347 + 17903307;15489334;14702039;12477932;21529783;20386566 145858 Q32M92 ABBA01053091;AC090985;AK057393;AMYH01006930;BC109252;BC109253;CH471101;FJ515837;HC044857;NM_153040 AAI09253;AAI09254;ACS13729;BAB71467;CBH30758;EAX02151;NP_694585;Q32M92 Hs.367879 1769670;5124182 G17849;RH98365 FLJ32831;MGC129836;MGC129837 OTTHUMP00000194775;hypothetical protein LOC145858;uncharacterized protein C15orf32 protein-coding ENSG00000183643 26549 08143 PREDICTED 1348927 C14orf93 chromosome 14 open reading frame 93 14 14 14 q11.2 3319000 3342250 - 22525951 22549192 - 23456110 23479360 - 6480464 18029348;16344560;15489334;14702039;12477932;21832049;21693764;21890473 60686 G3V2P0;G3V2U2;G3V396;G3V3W0;G3V4F1;G3V4L9;G3V4W6;G5E9D9;J3KPV9;Q9H972 ABBA01061298;ABBA01061299;ABBA01061300;ABBA01061301;AK022216;AK023026;AL132780;AMYH01005601;AMYH01005602;BC014299;BX161383;BX161417;BX161474;BX161507;CH471078;DA818572;NM_001130706;NM_001130708;NM_021944 AAH14299;BAB13988;BAB14363;CAD61874;CAD61892;CAD61930;CAD61946;EAW66196;EAW66197;EAW66198;EAW66199;EAW66200;EAW66201;EAW66202;EAW66203;NP_001124178;NP_001124180;NP_068763;Q9H972 Hs.255874 1672048;1728477;2117918 AFMB073ZC5;G63676;SHGC-31862 FLJ12154 OTTHUMP00000164561;OTTHUMP00000164562;OTTHUMP00000164563;OTTHUMP00000164564;OTTHUMP00000164565;OTTHUMP00000164566;OTTHUMP00000164567;hypothetical protein LOC60686;uncharacterized protein C14orf93 protein-coding ENSG00000100802 20162 12662 VALIDATED 1602786 C15orf45 chromosome 15 open reading frame 45 15 q13.3 30749667 30750065 + 14702039 641318 Q96MF0 AK057017;NM_001035530 BAB71345;NP_001030607;Q96MF0 Hs.671908 FLJ32455 protein-coding 32364 1604167 C15orf38 chromosome 15 open reading frame 38 15 15 15 q26.1 66846848 66859238 - 88244836 88257163 - 90443832 90456222 - 6480464 16344560;15489334;14702039;12477932;17207965;20585627;21139048 348110 H0YL03;H0YMP5;Q7Z6K5 ABBA01053029;ABBA01053030;ABBA01053031;AC027176;AK093274;AMYH01006919;BC053602;CH471101;DB285255;NM_182616 AAH53602;ADQ32596;EAX02077;EAX02078;NP_872422;Q7Z6K5 Hs.6734 2111180 D15S223E MGC61550 OTTHUMP00000205867;UPF0552 protein C15orf38;hypothetical protein LOC348110 protein-coding 28782 14697 VALIDATED 1605267 C15orf51 chromosome 15 open reading frame 51 15 15 15 q26.3 76749299 76760211 - 98147884 98164655 - 100330361 100347132 - 15008788;12477932 196968 Q8NDG8 AC090825;AK127834;AK302717;AL833912;BC101078;BC101080;BC101081;NR_003260 BAC87154;BAG63937;CAD38768;Q6ZS02;Q8NDG8 Hs.567763;Hs.585319 DKFZp434I1020;FLJ45937;FLJ54911;MGC119618 pseudo 25290 13192 1607000 C15orf41 chromosome 15 open reading frame 41 15 15 15 q14 13631911 13862498 + 34720098 34889739 + 36871812 37102449 + 6480464 17353931;16344560;15489334;12477932;17207965;19913121;20628086;21906983 84529 H3BMD3;H3BNF9;H3BRH2;H3BS01;H3BTL3;Q9Y2V0 ABBA01038496;ABBA01038497;AC007429;AC013640;AC019016;AC103988;AF114263;AK026504;AK315446;AMYH01006547;AMYH01006548;BC006254;BC042750;BX647650;CH471125;DA467314;DA534917;NM_001130010;NM_032499 AAD29606;AAH06254;ADQ32816;BAG37834;EAW92336;EAW92337;EAW92338;NP_001123482;NP_115888;Q9Y2V0 Hs.48348 1339904;1663261;1751897;1753133;1772473;2141569;2141738;2171617;2219132 D15S1266;G17854;GATA50C03;HH114__6715;SGC38378;SHGC-105791;SHGC-109985;WI-13895;WI-18117 FLJ22851;HH114;MGC11326 hypothetical protein LOC84529;uncharacterized protein C15orf41 protein-coding ENSG00000186073 26929 13650 VALIDATED 1604333 C15orf39 chromosome 15 open reading frame 39 15 15 15 q24.2 52445013 52455302 + 73281274 73291563 + 75494221 75504510 + 6480464 16344560;15498874;15489334;14702039;12477932;11230166;8889548;16169070;21832049;19471022;21693764;21890473;22505724 56905 H3BMJ2;H3BN41;H3BRS2;H3BT66;Q6ZRI6 ABBA01060519;AC113208;AF063593;AF143881;AF495726;AK056589;AK057025;AK123746;AK125111;AK125604;AK128205;AL109730;AL117540;AL360143;AL834382;AMYH01006804;BC000540;BC001762;BC006207;BC011379;BC011905;BC051235;BC109195;BC110367;BM684714;CH471136;CR533482;DA720113;NM_015492 AAG43152;AAH01762;AAH11379;AAH11905;AAH51235;AAI09196;AAI10368;AAQ06680;BAC86215;BAC87324;BAG54145;CAB55985;CAB96089;CAD39045;CAG38513;EAW99272;EAW99273;NP_056307;Q6ZRI6 Hs.17936 2117893;2158936;2166562;2175460 D15S617E;HSC0NH062;RH45074;STS-T53273 DKFZp434H132;FLJ46337;MGC117209 OTTHUMP00000183481;hypothetical protein LOC56905;uncharacterized protein C15orf39 protein-coding ENSG00000167173 24497 13154 VALIDATED 1604247 C15orf40 chromosome 15 open reading frame 40 15 15 15 q25.2 60906250 60928927 + 81464408 81471362 - 83657715 83680393 - 6480464 16368877;15489334;15146197;14702039;12477932;8889548;16751776;21139048;21890473 123207 H0Y996;H0Y9H8;H0YAC3;H3BM85;H3BMR1;H3BQZ5;Q8WUR7 AA905778;ABBA01029433;AC022558;AI239480;AJ705316;AK125586;AK311484;AK312160;AL602775;AMYH01006858;AW105048;BC019820;BE906569;BQ013375;BQ185982;BY800475;CH471188;CN347153;DC428269;DQ573071;DW416709;NM_001160113;NM_001160114;NM_001160115;NM_001160116;NM_144597;NR_027649;NR_027650 AAH19820;BAG35094;EAW62431;EAW62432;NP_001153585;NP_001153586;NP_001153587;NP_001153588;NP_653198;Q8WUR7 Hs.352541 1680793;1700694;2107375;2120780;2143588;5015961;5020948;5022322;5037552 D11S2560;D15S1477;D8S2279;G35510;MGC29937__7701;RH103970;RH41989;RH65049;STS-N36410 FLJ33606;MGC29937 OTTHUMP00000218276;UPF0235 protein C15orf40;hypothetical protein LOC123207 protein-coding ENSG00000169609 28443 14538 VALIDATED 1606959 C15orf43 chromosome 15 open reading frame 43 15 15 15 q21.1 22140500 22163021 + 43036192 43058713 + 45248900 45271421 + 15489334;12477932;21832049 145645 H0YKV2;H0YNH3;Q8NHR7 ABBA01039190;AC090888;AMYH01006615;BC029537;CH471082;HC007150;NM_152448 AAH29537;ABM81909;ABM85084;CBH19380;EAW77283;NP_689661;Q8NHR7 Hs.567701 1732457 D15S517 MGC33951 OTTHUMP00000161938;hypothetical protein LOC145645;uncharacterized protein C15orf43 protein-coding ENSG00000167014 28520 17528 VALIDATED 1601736 C15orf48 chromosome 15 open reading frame 48 This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012] 15 15 15 q21.1 22614182 22617066 + 43510055 43512939 + 45722727 45725647 + 6480464 12209954;18636205;16434596;15489334;12477932;20877624;22464673 84419 H0YKW5;Q9C002 AA493534;AB026707;ABBA01039183;AC025580;AF228422;AK026298;AMYH01006618;BC021173;BM312626;CA865860;CH471082;CS300715;DB447060;NM_032413;NM_197955 AAH21173;AAK00708;ABM82120;ABM85294;BAB61021;CAK32379;EAW77312;EAW77313;NP_115789;NP_922946;Q9C002 Hs.112242 1651349 RH106 FLJ22645;FOAP-11;MGC32925;NMES1 OTTHUMP00000162117;normal mucosa of esophagus specific 1;normal mucosa of esophagus-specific gene 1 protein APPROVED protein-coding ENSG00000166920 29898 16332 608409 REVIEWED 1602266 C15orf52 chromosome 15 open reading frame 52 15 15 15 q15.1 17389636 17399151 - 38410945 38420460 - 40623653 40633168 - 6480464 16344560;12477932;8889548 388115 H0YK65;H0YM82;Q6ZUT6 ABBA01038453;AC013356;AK124643;AK125329;AK126035;AK126485;AMYH01006560;BC015670;BC140897;BC140902;BM716672;BQ690903;BU618720;CH471125;CR749408;DA106198;DA892533;NM_207380 AAI40898;AAI40903;BAC86132;BAC86405;CAH18251;EAW92404;EAW92405;NP_997263;Q6ZUT6 Hs.32433 2177066;2191445;5123933 MARC_23447-23448:1027106168:1;RH78611;WI-16206 DKFZp686N1468;FLJ43339 OTTHUMP00000198225;flj43339 protein;hypothetical protein LOC388115;uncharacterized protein C15orf52 protein-coding 33488 16964 VALIDATED 2302457 C15orf61 chromosome 15 open reading frame 61 15 15 15 q23 44701061 44707180 + 65599954 65606035 + 67813522 67819641 + 6480464 16572171;14702039;8889548 145853 A6NNL5;H0YN13 ABBA01038799;AC016355;AK294012;AMYH01006733;AY726587;BM664696;CH471082;CK903599;NM_001143936 A6NNL5;BAG57373;EAW77798;NP_001137408 Hs.438385 FLJ59587 hypothetical protein LOC145853;uncharacterized protein C15orf61 protein-coding ENSG00000189227 34453 VALIDATED 1601684 C15orf53 chromosome 15 open reading frame 53 15 15 15 q14 15755804 15759245 + 36776091 36779531 + 38988799 38992239 + 19488044;18711365;14702039;12477932;20351715;21926972 400359 Q8NAA6 ABBA01038476;AC104261;AK093014;AMYH01006553;BC119016;BC119810;CH471125;NM_207444 AAI19017;AAI19811;BAC04019;EAW92373;NP_997327;Q8NAA6 Hs.448785 FLJ35695;MGC148119 OTTHUMP00000160278;hypothetical protein LOC400359;uncharacterized protein C15orf53 protein-coding ENSG00000175779 33796 13418 VALIDATED 2298735 C15orf59 chromosome 15 open reading frame 59 15 15 15 q24.1 50911962 50923642 - 71819194 71830869 - 74032141 74043816 - 6480464 12477932 388135 H0YKG6;Q2T9L4 ABBA01038707;AC022188;AMYH01006777;BC111368;NM_001039614 AAI11369;NP_001034703;Q2T9L4 Hs.40794 1789110;2152964 G65689;WI-21596 MGC131524 UPF0583 protein C15orf59;hypothetical protein LOC388135 protein-coding ENSG00000205363 33753 PREDICTED 1601683 C15orf54 chromosome 15 open reading frame 54 15 15 15 q14 16304366 16308529 + 37330211 37334340 + 39542885 39547048 + 6480464 14702039;12477932;21348951 400360 Q8N8G6 ABBA01038472;AC013652;AK096850;AMYH01006555;BC137300;BC137301;BC171789;BX647708;CH471125;NM_207445 AAI37301;AAI37302;AAI71789;BAC04876;EAW92378;NP_997328;Q8N8G6 Hs.376109 FLJ39531 OTTHUMP00000160280;putative uncharacterized protein C15orf54 protein-coding ENSG00000175746 33797 13437 VALIDATED 1345370 C16orf10 chromosome 16 open reading frame 10 p13.3 64493 AW298011 protein-coding 14138 1351577 C16orf12 chromosome 16 open reading frame 12 64491 14140 7245658 C15orf65 chromosome 15 open reading frame 65 145788 H3BRN8 ABBA01039025;AC013355;AK130862;AMYH01006666;AV735277;BX648577;CH471082;NM_001198784 EAW77489;NP_001185713 Hs.97300 1688096;2184087 RH92020;WI-18393 uncharacterized protein LOC145788 protein-coding ENSG00000261652 44654 VALIDATED 1344697 C16orf15 chromosome 16 open reading frame 15 64488 14143 1353125 C16orf16 chromosome 16 open reading frame 16 64487 14144 1351241 C16orf17 chromosome 16 open reading frame 17 64486 14145 1347842 C16orf18 chromosome 16 open reading frame 18 64485 14146 2289749 C15orf56 chromosome 15 open reading frame 56 15 15 15 q15.1 17308841 17311083 - 38330160 38332402 - 40542868 40545110 - 14702039;12477932 644809 H0YNI1;Q8N910 ABBA01038456;AC020658;AI300379;AK095915;AMYH01006558;BC061900;NG_033169;NM_001039905 BAC04647;NP_001034994;Q8N910 Hs.631718 1700574;1707852;2118217 RH103909;SHGC-56872;SHGC-82160 FLJ38596 putative uncharacterized protein C15orf56 protein-coding ENSG00000176753 33868 VALIDATED 1353490 C16orf19 chromosome 16 open reading frame 19 64484 14147 1345079 C16orf20 chromosome 16 open reading frame 20 64483 H3BMF2;H3BN60;H3BVG3 14148 1605016 C15orf57 chromosome 15 open reading frame 57 15 15 15 q15.1 17611408 17625148 - 38632590 38644544 - 40845298 40857252 - 6480464 17207965;15342556;14702039;12477932;21044950;20016921 90416 H0YLI5;H0YLN5;H0YM19;H0YMC0;H0YN78;Q9BV29 ABBA01038445;ABBA01038446;AC091045;AK092214;AK098781;AK293079;AK312842;AL832032;AMYH01006563;BC001673;BG709516;BP202606;BQ878848;CD686743;CH471125;NM_001080791;NM_001080792;NM_052849 AAH01673;ADQ32092;BAC03831;BAC05411;BAF85768;CAD89911;EAW92420;EAW92421;EAW92422;EAW92423;EAW92424;EAW92425;EAW92426;EAW92427;NP_001074260;NP_001074261;NP_443081;Q9BV29 Hs.654661 1648644;1754569;1858499;2141851;2180257;5015619;5020948;5037552;5109281 2068;D11S3114;D1S1425;D8S2279;G35510;RH45958;SHGC-132857;SHGC-24371;WI-22288 CCDC32;FLJ25915;MGC20481 OTTHUMP00000160454;coiled-coil domain containing 32;uncharacterized protein C15orf57 protein-coding ENSG00000128891 28295 14473 VALIDATED 1344022 C16orf27 chromosome 16 open reading frame 27 64740 14155 1353722 C16orf2 chromosome 16 open reading frame 2 749 1196 1347623 C16orf21 chromosome 16 open reading frame 21 64482 14149 1349511 C16orf29 chromosome 16 open reading frame 29 64738 14157 1353054 C16orf31 chromosome 16 open reading frame 31 64736 14159 1353914 C16orf43 chromosome 16 open reading frame 43 64720 14176 2307386 C15orf60 chromosome 15 open reading frame 60 15 15 15 q22 50614105 50730994 + 71522552 71639407 + 73735499 73852354 + 6480464 14702039;12477932;23382691 283677 H0YKR2;Q7Z4M0 ABBA01038709;ABBA01038710;ABBA01038711;AC009660;AC022735;AK131030;AMYH01006776;BC055412;BX113903;CH471082;DB465854;NM_001042367 AAH55412;EAW77929;NP_001035826;Q7Z4M0 Hs.743574 2121709;2176182 D15S1086;WI-14402 FLJ27520;FLJ36860;FLJ44083 hypothetical protein LOC283677;meiotic recombination protein REC114-like;uncharacterized protein C15orf60 protein-coding ENSG00000183324 25065 PROVISIONAL 1602296 C16orf11 chromosome 16 open reading frame 11 16 16 16 p13.3 810776 815883 + 550423 555530 + 610422 615529 + 12477932 146325 P0CG20 ABBA01030362;AE006464;AMYH01006996;BC016613;CH471112;NM_145270;Z97986 AAH16613;AAK61234;ADR82814;EAW85802;NP_660313;P0CG20 Hs.632220 LA16c-366D1.2 OTTHUMP00000205085;hypothetical protein LOC146325;uncharacterized protein C16orf11;uncharacterized protein RJD1 protein-coding ENSG00000161992 14139 10046 VALIDATED 2299194 C15orf62 chromosome 15 open reading frame 62 15 15 15 q15.1 17830052 17832540 + 38849451 38851942 + 41062159 41064647 + 6480464 16572171;16344560;14702039;12477932;8889548;19913121;20628086 643338 A8K5M9 ABBA01038432;AC012476;AK291344;AMYH01006566;BC027487;BM706032;CN478592;DA761028;NM_001130448 A8K5M9;BAF84033;NP_001123920 Hs.631715 hypothetical protein LOC643338;uncharacterized protein C15orf62, mitochondrial;uncharacterized protein FLJ75552, mitochondrial protein-coding ENSG00000188277 34489 VALIDATED 1344443 C16orf47 chromosome 16 open reading frame 47 16 q22.3 73160536 73178346 - 14702039;19010793 388289 Q6ZP98 ABBA01016811;AC116667;AK129695;AMYH01007803;CH471166;NM_207385;XR_109294;XR_111595;XR_172172 BAC85221;EAW59166;NP_997268;Q6ZP98 Hs.371893 1747867 G66805 putative uncharacterized protein C16orf47 protein-coding ENSG00000197445 28329 16623 VALIDATED 1603944 C16orf13 chromosome 16 open reading frame 13 16 16 16 p13.3 884563 886515 - 624430 626348 - 684429 686347 - 6480464 16341674;15342556;14702039;12477932;11157797;22939629;21139048 84326 F6VM53;H3BMF3;H3BNB2;H3BNT3;H3BQ55;H3BRT2;H3BS73 ABBA01030360;AE006464;AI146806;AK057077;AK294482;AK295628;AMYH01006998;AW027232;BC007207;BC047118;BG612714;BM827705;BP276058;BQ921757;BX104467;CH471112;CK904040;DB499720;NM_001040160;NM_001040161;NM_001040162;NM_001040165;NM_032366;Z84479 AAH07207;AAH47118;AAK61238;BAB71362;BAG57706;BAG58505;EAW85784;EAW85785;EAW85786;EAW85787;EAW85788;EAW85789;NP_001035250;NP_001035251;NP_001035252;NP_001035255;NP_115742;Q96S19 Hs.239500 JFP2;MGC13114 UPF0585 protein C16orf13;hypothetical protein LOC84326 protein-coding ENSG00000130731 14141 17482 VALIDATED 1352089 C16orf3 chromosome 16 open reading frame 3 16 16 16 q24.3 75159854 75160847 - 88622817 88623810 - 90095316 90096309 - 6480464 15489334;12477932;9790751 750 O95177 ABBA01014116;AC133919;AF050080;AF050081;AMYH01007941;BC093751;BC104849;CH471184;NM_001214 AAC69520;AAC69521;AAH93751;AAI04850;EAW66662;NP_001205;O95177 Hs.633032 1674111;2220596 SHGC-61195;UniSTS:485715 MGC132509 hypothetical protein LOC750;uncharacterized protein C16orf3 protein-coding ENSG00000221819 1197 05534 605179 VALIDATED 1345260 C16orf46 chromosome 16 open reading frame 46 16 16 16 q23.2 65385500 65409274 - 79644603 79668373 - 81087102 81110872 - 6480464 18951430;16344560;14702039;12477932;20379614;18029348 123775 H3BQQ0;Q6P387 AA905107;ABBA01016985;AC092718;AK057264;AK295411;AMYH01007848;BC064143;CH471114;DA525473;NM_001100873;NM_152337 AAH64143;BAB71401;BAG58362;EAW95548;NP_001094343;NP_689550;Q6P387 Hs.658684 1668970;1723737;2141201;5093854 A009X43;G32963;RH118758;RH17564 FLJ32702 OTTHUMP00000174976;OTTHUMP00000174977;chromosome 16 open reading frame 46;uncharacterized protein C16orf46 protein-coding ENSG00000166455 26525 08730 VALIDATED 1353331 C16orf6 chromosome 16 open reading frame 6 26588 1199 1348125 C16orf28 chromosome 16 open reading frame 28 16 p13.3 1354998 1369647 - 16344560;15761153;15616553;15489334;14702039;12477932;11157797;8889548 65259 AE006467;AK022685;AK027013;AL031709;AL031721;BC000150;BQ776895;CF136587;CH471112;DA558634;DA739764;NM_023076 AAH00150;AAK61278;BAB14178;BAB15626;EAW85662;EAW85663;EAW85664;NP_075564;Q9H9P5 Hs.598368;Hs.643536 FLJ23360 protein-coding 14156 08025 1345550 C16orf45 chromosome 16 open reading frame 45 16 16 16 p13.11 15208794 15362586 + 15435826 15589418 + 15528325 15682116 + 6480464 15489334;14702039;12477932;10493829;16169070;17207965;21139048;21906983 89927 H3BP34;H3BR56;H3BRF6;H3BTT5;H3BU79;H3BUY6;Q96MC5 ABBA01048890;ABBA01048891;ABBA01048892;ABBA01048893;ABBA01048894;ABBA01048895;ABBA01048896;ABBA01048897;ABBA01048898;ABBA01048899;AC026401;AC140504;AI377644;AK057180;AK293431;AMYH01007182;BC008967;BC023603;CH471226;NM_001142469;NM_033201;U95740 AAC31663;AAH08967;AAH23603;ADQ32126;BAB71376;BAG56936;EAW53916;EAW53917;EAW53918;NP_001135941;NP_149978;Q96MC5 Hs.401798 1688064;1740523;2121873;2128277;2132061;2168279;2173473 D16S3177;D16S3345;RH41898;RH65283;SHGC-33692;SHGC-56757;STS-AA027340 FLJ32618 OTTHUMP00000160327;hypothetical protein LOC89927;uncharacterized protein C16orf45 protein-coding ENSG00000166780 19213 12382 VALIDATED 2302534 C16orf52 chromosome 16 open reading frame 52 16 16 16 p12.2 20798365 20875858 + 21919974 22005016 + 22019456 22095975 + 6480464 15616553;15489334;12477932;14702039 730094 H3BMU2;H3BNM6;H3BP60;H3BQB3;H3BS23;Q8NHV5 ABBA01003849;ABBA01003850;AC009019;AC092119;AF086142;AK095585;AMYH01007355;BC027604;BC045557;BC053950;NM_001164579 NP_001158051;Q8NHV5 Hs.498890 1680841;1685245;1698320;1858528;2147779;2151451;2174789;5092862 A009B15;G32377;RH102700;RH64983;RH65214;RH93574;SHGC-56785;WI-20621 MGC26782 hypothetical protein LOC730094;uncharacterized protein C16orf52 protein-coding ENSG00000185716 27087 VALIDATED 1604787 C16orf59 chromosome 16 open reading frame 59 16 16 16 p13.3 2724490 2729339 + 2450116 2454965 + 2510115 2514964 + 6480464 12477932;14702039;16484223;21906983 80178 H3BND0;H3BPH1;H3BTF6;H3BU38;Q7L2K0 ABBA01030256;AC106820;AK023971;AK093788;AK128408;AK301929;AL559561;AMYH01007058;BC008882;BC018719;CH471112;CR457319;NM_025108 AAH08882;AAH18719;ACE87026;ADZ15571;BAB14745;BAG63349;CAG33600;EAW85505;EAW85506;EAW85507;EAW85508;EAW85509;NP_079384;Q7L2K0 Hs.534491 1655168;1677304 RH98649;SHGC-34827 FLJ13909 OTTHUMP00000159082;hypothetical protein LOC80178;uncharacterized protein C16orf59 protein-coding ENSG00000162062 25849 07840 VALIDATED 1605828 C16orf54 chromosome 16 open reading frame 54 16 16 16 p11.2 73038911 73042469 + 29661285 29664841 - 29753784 29757340 - 16344560;15489334;14702039;12975309;12477932;11181995;10493829;22505724 283897 Q6UWD8 ABBA01013119;AC002301;AC009133;AK093000;AMYH01007494;AY358833;BC025741;BC104466;BC104467;CH471238;DA427069;NM_175900 AAI04467;AAI04468;AAQ89192;BAC04015;EAW80012;NP_787096;Q6UWD8 Hs.331095 FLJ35681;MGC129957;MGC129958 OTTHUMP00000162996;transmembrane protein C16orf54 protein-coding ENSG00000185905 26649 08183 VALIDATED 1601979 C16orf58 chromosome 16 open reading frame 58 This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013] 16 16 16 p11.2 28788683 28807579 + 31408316 31427207 - 31500810 31519706 - 6480464 19515790;15489334;14702039;12477932;8125298;21890473;21906983;16344560 64755 B4DJP2;H3BR29;H3BS97;H3BSM7;H3BTA0;I3L2V0;Q96GQ5 ABBA01042096;AC026471;AK000679;AK023930;AK092580;AK222913;AK296166;AK296491;AK304608;AL834462;AMYH01007509;BC000822;BC009308;BC054514;BC059952;CA448699;CH471192;DA742232;NG_033149;NM_022744 AAH00822;AAH09308;BAB14730;BAC03918;BAD96633;BAG58904;BAG59128;BAG65393;EAW52119;EAW52120;EAW52121;EAW52122;NP_073581;Q96GQ5 Hs.499102;Hs.9003 1679163;1679167;1683633;1693740;1761637;1849376 RH65072;RH69206;RH98795;SHGC-145625;SHGC-58809;SHGC-61098 FLJ13868;RUS OTTHUMP00000163300;UPF0420 protein C16orf58;hypothetical protein LOC64755 protein-coding ENSG00000140688 25848 07839 VALIDATED 1604523 C16orf71 chromosome 16 open reading frame 71 16 16 16 p13.3 4993069 5008177 + 4724290 4739398 + 4784289 4799397 + 12477932 146562 K7ENX3;K7EPW6;Q8IYS4 ABBA01026784;AC020663;AF447587;AK125251;AK301794;AMYH01007107;BC035024;BI458862;BX648126;CH471112;NM_139170 AAH35024;AAM22870;ACE86621;ACE87302;BAG54174;BAG63247;EAW85267;EAW85268;NP_631909;Q8IYS4 Hs.602738 2218684 ZNF500__4861 DKFZp686H2240;FLJ43261 OTTHUMP00000159855;hypothetical protein LOC146562;uncharacterized protein C16orf71 protein-coding ENSG00000166246 25081 11238 VALIDATED 1603979 C16orf62 chromosome 16 open reading frame 62 16 16 16 p12.3 18716038 18861405 + 19474541 19619945 + 19566737 19712485 + 6480464 14702039;12477932;11230166;10493829;19913121;20532202;20628086;20379614;15342556;16344560;21139048;21890473;21906983 57020 C9J7I2;E7EWW0;F5H7K1;F6S1J4;G5E9I3;H0YFG6;H3BNX2;H3BRV8;H3BTI5;H3BUS7;H3BV68;H3BVG8;I3L1U5;Q9H0L7 ABBA01028264;ABBA01028265;AC002550;AC012621;AF461052;AK024693;AK095078;AK290286;AK294885;AL136744;AL832159;AL833428;AMYH01007323;AMYH01007324;BC014900;BC050464;BC058845;BP219237;BX537867;CH471186;DA452318;DC322427;NM_020314 AAC05806;AAH14900;AAH50464;AAH58845;AAL67806;ACE86683;ACE87367;BAB14965;BAF82975;BAG52981;BAG57979;CAB66678;CAD97869;CAH10399;EAW50289;EAW50290;EAW50291;NP_064710;Q7Z3J2 Hs.654964 1647405;1673145;1681012;1738591;2148546;2152810;2157460;2159756;2174702;2177537;5015404;5022651 D11S2921;D16S2594E;D16S2745;L17705;RH65185;RH69435;SHGC-53577;SHGC-60519;SHGC-60588;SHGC-60595;SHGC-60633;STS-AA024457 DKFZp313M0539;DKFZp434B0212;FLJ21040;MGC16824 OTTHUMP00000237331;OTTHUMP00000237332;UPF0505 protein C16orf62;esophageal cancer associated protein;esophageal cancer-associated protein;hypothetical protein LOC57020 protein-coding ENSG00000103544 24641 14455 VALIDATED 1606639 C16orf85 chromosome 16 open reading frame 85 16 q24.2 87147613 87164049 - 400555 Q6ZSH3 AC116552;AK127438;NM_001001682 AAI48582;AAI53154;BAC86980;NP_001001682;Q6ZSH3 Hs.120392 1758345 SHGC-148099 FLJ45530 protein-coding 33799 13509 1604592 C16orf70 chromosome 16 open reading frame 70 16 16 16 q22.1 51652166 51690685 + 65701416 65739943 + 67143915 67182442 + 6480464 16713569;15489334;14702039;14529721;12477932;10846156;9822620;19773279;21048031;19913121;20628086;21832049;22939629;21139048 80262 H3BRA5;H3BS58;H3BSG0;J3QRI8;Q9BSU1 ABBA01025429;ABBA01025430;ABBA01025431;AC074143;AF176088;AK022138;AMYH01007745;BC004556;CH471092;NM_025187 AAH04556;AAK96888;ADZ15338;BAB13968;EAW83072;EAW83073;EAW83074;EAW83075;EAW83076;EAW83077;EAW83078;NP_079463;Q9BSU1 Hs.513666 1672105;1682680;1738757;2146873;2162615;5015861;5037552;7185938 D10S16;D16S2584E;D16S2846;D8S2279;RH44529;RH70212;RH80598 C16orf6;FLJ12076;LIN10;lin-10 OTTHUMP00000174804;UPF0183 protein C16orf70;lin-10;lin-10 homolog protein-coding ENSG00000125149 29564 17460 PROVISIONAL 1605880 C16orf78 chromosome 16 open reading frame 78 16 16 16 q12.1 33919770 33945283 + 47965309 47990822 + 49407808 49433321 + 6480464 12477932;17207965;21890473;22219177 123970 Q8WTQ4 ABBA01000894;AC007614;AMYH01007654;BC021181;BC021718;CH471092;HC006816;NM_144602 AAH21181;AAH21718;ADQ31886;CBH19214;EAW82734;NP_653203;Q8WTQ4 Hs.125875 1738617;1757133 D16S2759;SHGC-144568 MGC33367 OTTHUMP00000164196;hypothetical protein LOC123970;uncharacterized protein C16orf78 protein-coding ENSG00000166152 28479 14560 PREDICTED 1606021 C16orf72 chromosome 16 open reading frame 72 16 16 16 p13.2 9353303 9381316 + 9093038 9121056 + 9185537 9213555 + 6480464 14702039;12477932;8889548;19322201 29035 Q14CZ0;Q9UI82 ABBA01019742;AC087190;AK123266;AMYH01007141;BC029878;BC113570;BI831003;BM975140;CB959956;CH471112;NM_014117 AAI13571;ADR82920;EAW85189;NP_054836;Q14CZ0 Hs.221497 1666405;1677576;1700544;1700930;1738545;1774877;1775667;1846596;1856005;2166111;2168873;5022038 A005B05;C160rf72;D16S2718;RH103893;RH104092;RH69874;RH70039;SHGC-60747;SHGC-60749;SHGC-60790;SHGC-61077;WI-12288 FLJ41272;PRO0149 OTTHUMP00000160111;UPF0472 protein C16orf72;hypothetical protein LOC29035 protein-coding 30103 17910 VALIDATED 2303333 C16orf90 chromosome 16 open reading frame 90 16 16 16 p13.3 3750264 3752201 - 3483485 3485422 - 3543484 3545421 - 646174 A8MZG2;H0Y3R3 ABBA01026740;AC004224;AMYH01007094;NM_001080524 A8MZG2;NP_001073993 Hs.632224 2177987 RH41812 OTTHUMP00000210840;OTTHUMP00000210841;hypothetical protein LOC646174;uncharacterized protein C16orf90 protein-coding ENSG00000215131 34455 PREDICTED 1606366 C16orf74 chromosome 16 open reading frame 74 16 16 16 q24.1 70044265 70087824 - 84298624 84342190 - 85741123 85784689 - 6480464 16189514;15489334;12477932;12107413;21203532 404550 Q96GX8;R4GMV5;R4GMY0;R4GN89;R4GNJ3 ABBA01034277;AC018695;AMYH01007888;AMYH01007889;AW072412;BC009078;CD674248;CH471114;CQ800176;CS502806;NM_206967 CAG27584;CAM83960;EAW95441;EAW95442;NP_996850;Q96GX8 Hs.461655 1852363 SHGC-60803 MGC17624 MGC17624 protein;hypothetical protein LOC404550;uncharacterized protein C16orf74 protein-coding ENSG00000154102 23362 14460 VALIDATED 1605686 C16orf80 chromosome 16 open reading frame 80 16 16 16 q21 42644770 42662761 - 56704997 56720797 - 58147496 58163296 - 6480464 8688464;15324660;12477932;17332742;21139048;21890473;21906983 29105 H3BPA3;Q9Y6A4 ABBA01025294;ABBA01025295;AC009107;AC012182;AC026771;AF087845;AF093680;AK027099;AK297819;AMYH01007707;AV751497;BC005152;CH471092;NM_013242 AAD40382;AAH05152;AAP97158;ABZ92321;BAG60156;EAW82967;NP_037374;Q9Y6A4 Hs.532755 1660319;1738649 D16S2775;SHGC-61162 EVORF;GTL3;fSAP23 OTTHUMP00000164726;UPF0468 protein C16orf80;functional spliceosome-associated protein 23;gene trap locus 3;transcription factor IIB protein-coding ENSG00000070761 29523 13616 VALIDATED 1604692 C16orf86 chromosome 16 open reading frame 86 16 16 16 q22.1 52209207 52211151 + 66258218 66260162 + 67700717 67702661 + 12477932 388284 F8WFD6;Q6ZW13;R4GNF0 ABBA01025451;AC010530;AK123796;AMYH01007751;BC032064;BC041612;BC064498;BC082249;BC132878;BC132880;CA432406;CH471092;NM_001012984 BAC85694;EAW83162;EAW83163;EAW83164;NP_001013002;Q6ZW13 Hs.632208 OTTHUMP00000197746;hypothetical protein LOC388284;uncharacterized protein C16orf86 protein-coding ENSG00000159761 33755 18380 VALIDATED 1604693 C16orf87 chromosome 16 open reading frame 87 16 16 16 q11.2 31344142 31373247 - 45393460 45422575 - 46835959 46865074 - 6480464 12477932;17207965;19322201 388272 H3BQL3;Q6PH81 ABBA01013767;AC007225;AMYH01007642;BC056676;BX647945;CH471092;NM_001001436 AAH56676;ADQ32180;CAH56192;EAW82689;NP_001001436;Q6PH81 Hs.406551 1676966;2108431;5015861;5022578;5022651;7185938 D10S16;D11S2921;D1S1423;RH78494;RPL36AL_8599 MGC62018 OTTHUMP00000163360;UPF0547 protein C16orf87;hypothetical protein LOC388272 protein-coding ENSG00000155330 33754 17370 PREDICTED 1602067 C16orf89 chromosome 16 open reading frame 89 This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p13.3 5303508 5325498 - 5034124 5056112 - 5094123 5116146 - 6480464 21145461;16303743;15197164;12975309;12477932;20578903 146556 G3V0F0;Q6UX73 ABBA01026798;AC026458;AK075242;AK300708;AMYH01007110;AMYH01007111;AY358483;BC033681;CF272639;CH471112;CQ783348;NG_030316;NM_001098514;NM_152459 AAH33681;AAQ88847;BAC11494;BAG62387;CAF86554;EAW85242;EAW85243;EAW85244;NP_001091984;NP_689672;Q6UX73 Hs.11782 1698816;2107385;2168594;5022578;5022651 D11S2921;D16S3329;D1S1423;MGC45438__7717;RH102972 MGC45438 OTTHUMP00000214789;OTTHUMP00000214790;OTTHUMP00000214791;UPF0764 protein C16orf89;hypothetical protein LOC146556 APPROVED protein-coding ENSG00000153446 28687 11353 VALIDATED 1602175 C16orf82 chromosome 16 open reading frame 82 16 16 16 p12.1 25854262 25856530 + 26985529 26987991 + 27078219 27080487 + 15489334;12477932 162083 Q7Z2V1 ABBA01017146;AC092725;AF536240;AI025812;AK311574;AMYH01007402;AW450252;BC031257;BC136370;BC136382;CH471145;NM_001145545 AAH31257;AAI36371;AAI36383;AAP97728;EAW55761;NP_001139017;Q7Z2V1 Hs.120831 1697072 RH102017 FLJ18616;TNT OTTHUMP00000220950;protein TNT protein-coding 30755 18211 VALIDATED 7205296 C16orf97 chromosome 16 open reading frame 97 16 q12.1 52060264 52107847 - 11181995 388276 H3BN30;H3BSQ4;I3L0Q7 ABBA01066468;ABBA01066469;AC009039;AMYH01007670;BX096212;CH471092;NM_001242473 EAW82782;H3BN30;NP_001229402 Hs.534669 hCG2045437;uncharacterized protein C16orf97;uncharacterized protein LOC388276 protein-coding ENSG00000261190 44658 VALIDATED 7207291 C16orf98 chromosome 16 open reading frame 98 16 31213206 31214767 + 100652740 I3L0S3 ABBA01042085;AC009088;AMYH01007504;BF508251;BX464768;NR_102400;XM_003403462;XM_003846586;XM_003960644 XP_003403510;XP_003846634;XP_003960693 chromosome 16 open reading frame 98 miscrna ENSG00000261359 45036 VALIDATED 5487050 C16orf96 chromosome 16 open reading frame 96 16 16 p13.3 4546492 4590319 + 4606491 4650318 + 15616553;23251661 342346 A6NNT2 ABBA01026778;ABBA01026779;ABBA01026780;ABBA01026781;AC023830;AMYH01007105;AMYH01007106;NM_001145011 A6NNT2;NP_001138483 Hs.684212 1677354 RH41222 hypothetical protein LOC342346;putative uncharacterized protein C16orf96 protein-coding ENSG00000205832 40031 PREDICTED 1353497 C17orf10 chromosome 17 open reading frame 10 53396 1201 2306470 C16orf92 chromosome 16 open reading frame 92 16 16 16 p11.2 72759701 72761069 - 29942156 29943524 + 30034655 30036023 + 12477932 146378 H3BMV0;H3BSP6;H3BVC3;Q96LL3 ABBA01013109;AC093512;AK058133;AMYH01007497;BC101433;BC101434;BC101435;BC101436;BC127955;CH471238;NM_001109659;NM_001109660 AAI01434;AAI01435;AAI01436;AAI01437;AAI27956;BAB71678;EAW79941;NP_001103129;NP_001103130;Q96LL3 Hs.651588 1675614;5493551 RH78407;UniSTS:487197 FLJ25404;MGC125422 hypothetical protein LOC146378;uncharacterized protein C16orf92 protein-coding ENSG00000167194 26346 PREDICTED 1603940 C16orf93 chromosome 16 open reading frame 93 16 16 16 p11.2 29523901 29528691 + 30676253 30681043 - 30768744 30773565 - 12477932 90835 A1A4V9;F5H7A8;H0YGC5;H3BNW1;H3BTQ9 ABBA01042056;AC106886;AK307279;AL122109;AMYH01007499;BC042548;BC063391;BC073881;BC092491;BC128128;BC128129;BI829598;CH471192;NG_016616;NM_001014979;NM_001195620 A1A4V9;AAH92491;AAI28129;AAI28130;EAW52201;EAW52202;EAW52203;EAW52204;EAW52205;EAW52206;NP_001014979;NP_001182549 Hs.724010 1676350;1677718;1677848;1686246;1690656 RH65200;RH69119;RH79848;RH79900;RH92783 MGC104706 OTTHUMP00000237342;OTTHUMP00000237343;coiled-coil domain-containing protein C16orf93;hypothetical protein LOC90835 protein-coding ENSG00000196118 28078 18705 VALIDATED 1605551 C16orf91 chromosome 16 open reading frame 91 16 16 16 p13.3 1682542 1691944 - 1409945 1419346 - 1469944 1479345 - 6480464 12477932;11157797 283951 H3BP47;Q4G0I0 ABBA01030306;ABBA01030307;AE006467;AL032819;AMYH01007035;AW014549;BC023590;BC092497;BQ962326;CH471112;CS072388;NM_001010878;NM_001272051 AAH92497;AAI40335;AAI46484;AAK61280;CAI93526;EAW85657;EAW85658;NP_001010878;NP_001258980;Q4G0I0 Hs.58373;Hs.744762 1768038 RH47026 CCSMST1;MGC104723;gs103 cattle cerebrum and skeletal muscle-specific protein 1 family member;protein CCSMST1 protein-coding ENSG00000174109 27558 17332 VALIDATED 3051040 C17orf107 chromosome 17 open reading frame 107 17 17 17 p13.2 4817829 4821108 + 4743492 4747006 + 4802948 4806227 + 100130311 E5RJ01;Q6ZR85 ABBA01054781;AC109333;AC233723;AK128415;AK308530;AK309386;AMYH01008043;AW014012;NG_008029;NM_001145536 BAC87429;NP_001139008;Q6ZR85 Hs.579243 1675505;2122387;2167048;5095183 CHRNE;RH76075;SHGC-11989;WI-19144 FLJ99427 OTTHUMP00000227680;hypothetical protein LOC100130311;uncharacterized protein C17orf107 protein-coding ENSG00000205710 37238 VALIDATED 1344830 C17orf11 chromosome 17 open reading frame 11 53395 AJ276251 protein-coding 1202 1348105 C17orf12 chromosome 17 open reading frame 12 p13.3 53394 AJ276252 Hs.684572 protein-coding 1203 6483734 C17orf112 chromosome 17 open reading frame 112 17 51062880 51065012 + 100506650 F2Z3M2 ABBA01041273;AC102948;AI126620;AMYH01008486;BX103358;NM_001243552 F2Z3M2;NP_001230481 Hs.146556 uncharacterized protein C17orf112;uncharacterized protein LOC100506650 protein-coding ENSG00000227011 42963 VALIDATED 1347951 C17orf13 chromosome 17 open reading frame 13 p13.3 53393 AJ276253;BX119309;BX502008 Hs.659206 protein-coding 1204 1351090 C17orf14 chromosome 17 open reading frame 14 p13.3 53392 AJ276255 protein-coding 1205 1348490 C17orf15 chromosome 17 open reading frame 15 53391 1206 2299982 C17orf100 chromosome 17 open reading frame 100 17 17 17 p13.1 6576124 6577683 + 6495783 6497341 + 6555059 6556617 + 6480464 12477932;11181995 388327 A8MU93;D3DTM5 ABBA01054836;AC004706;AMYH01008061;BC028174;BC038956;BC052606;BC067087;BC082254;BX488537;CH471108;NM_001105520 A8MU93;EAW90297;EAW90298;NP_001098990 Hs.262480 2189517;2190225;2190227 ALOX15-A611G;ALOX15-F4-R4;G73120 OTTHUMP00000163267;hCG1985469;hypothetical protein LOC388327;uncharacterized protein C17orf100 protein-coding 34494 VALIDATED 1346325 C17orf17 chromosome 17 open reading frame 17 53389 1208 1351954 C17orf16 chromosome 17 open reading frame 16 53390 1207 5132711 C16orf95 chromosome 16 open reading frame 95 16 16 q24.2 71633096 71647671 - 87336404 87351026 - 11076863;11181995;12477932;15489336;16381901;16344560;18487259 100506581 H3BNZ7;Q9H693 AB371437;ABBA01034327;AC010531;AK026130;AL136762;AMYH01007898;BC015536;BI460222;BU839368;CH471114;DA871621;NM_001195124;NM_001195125;NM_001256917 BAB15370;CAL37700;CAL37948;EAW95406;EAW95407;EAW95408;NP_001182053;NP_001182054;NP_001243846;Q9H693 Hs.729380 1677170 RH99238 DKFZp434J1815;FLJ22477 hypothetical protein LOC100506581;uncharacterized protein C16orf95 protein-coding ENSG00000260456 40033 VALIDATED 1354402 C17orf19 chromosome 17 open reading frame 19 53387 1210 1349410 C17orf18 chromosome 17 open reading frame 18 53388 1209 1602729 C17orf2 chromosome 17 open reading frame 2 p13.3 10673334 8316 U53930 protein-coding 1213 1350625 C17orf20 chromosome 17 open reading frame 20 53386 1214 1343641 C17orf21 chromosome 17 open reading frame 21 53385 1215 1352014 C17orf4 chromosome 17 open reading frame 4 53402 1218 1346844 C17orf22 chromosome 17 open reading frame 22 53384 1216 1347909 C17orf33 chromosome 17 open reading frame 33 170794 18227 1348577 C17orf5 chromosome 17 open reading frame 5 53401 1219 1606417 C17orf103 chromosome 17 open reading frame 103 17 17 17 p11.2 21384916 21400202 + 21082775 21097171 - 21142183 21156578 - 6480464 12477932 256302 H3BMV2;H3BT41;Q8N6N6 ABBA01050461;AC087294;AK126856;AL359586;AMYH01008268;BC029527;BC044645;CH471210;CR749731;FJ695210;NM_152914 AAH29527;BAG54382;EAX02600;NP_690878;Q8N6N6 Hs.654713 1678053;1730185;2128257;5037552 D17S1652E;D8S2279;RH80924;STS-AA035008 DKFZp761I1115;DKFZp762H185;Gtlf3b;MGC33894 gene trap locus F3b;protein GTLF3B;transcript expressed during hematopoiesis 2 protein-coding ENSG00000154035 30770 17527 VALIDATED 3458383 C17orf105 chromosome 17 open reading frame 105 17 17 17 q21.31 38565804 38570055 + 39213329 39220506 + 41857803 41862054 + 6480464 12477932 284067 B2RV13;K7ER76 ABBA01028400;AC003098;AK125817;AMYH01008409;BC054872;BC070324;BC146971;HC007090;HC044751;NM_001136483 AAI46972;B2RV13;CBH19350;CBH30705;NP_001129955 Hs.252707 1733444;5015879;5037552 D17S1225;D8S2279;GDB:314949 FLJ43829 hypothetical protein LOC284067;uncharacterized protein C17orf105 protein-coding 37241 PREDICTED 1605246 C17orf104 chromosome 17 open reading frame 104 17 17 17 q21.31 39444254 39463671 + 40098012 40104116 + 42733762 42753167 + 14702039;12477932;8889549 284071 A2RUB1;C9J4A2;C9JC06;C9JYK8;K7EPA7 AA205120;ABBA01028356;ABBA01028357;ABBA01028358;AC091152;AK093167;AK097747;AK302001;AMYH01008426;BC035159;BC041481;BC132822;BC136642;CH471178;DB459438;DB460166;DV080633;NM_001145080 A2RUB1;AAH35159;AAH41481;AAI32823;AAI36643;BAC04083;BAG63404;EAW51590;NP_001138552 Hs.349758 1682187;5022578;5037552 D1S1423;D8S2279;RH98557 FLJ35848;FLJ40428;MGC43301 OTTHUMP00000202970;hypothetical protein LOC284071;uncharacterized protein C17orf104 APPROVED protein-coding ENSG00000180336 26670 18768 VALIDATED 1606635 C17orf102 chromosome 17 open reading frame 102 17 17 17 q12 29811365 29816611 - 29925255 29930501 - 32901142 32906388 - 15489334;14702039;12477932 400591 A2RUQ5 ABBA01011216;AC005691;AK126768;AMYH01008352;BC133004;BC136710;BC142651;NM_207454 A2RUQ5;AAI33005;AAI36711;AAI42652;BAC86680;NP_997337 Hs.514090 FLJ44815 OTTHUMP00000210918;hypothetical protein LOC400591;uncharacterized protein C17orf102 protein-coding ENSG00000197322 34412 16975 VALIDATED 1602634 C17orf52 chromosome 17 open reading frame 52 q25.2 12477932 283994 BC038218 Hs.645372 protein-coding 27562 1605244 C17orf47 chromosome 17 open reading frame 47 17 17 17 q22 53080745 53083480 - 53973947 53976682 - 56618948 56621733 - 14702039;12477932;16344560 284083 Q8NEP4 ABBA01041340;AC005666;AK097440;AMYH01008513;BC022189;CH471109;DB073141;HC006818;NG_029570;NM_001038704 AAH22189;BAC05054;CBH19215;EAW94439;NP_001033793;Q8NEP4 Hs.646574 FLJ40121 hypothetical protein LOC284083;uncharacterized protein C17orf47 protein-coding ENSG00000181013 26844 08269 VALIDATED 1349752 C17orf6 chromosome 17 open reading frame 6 p13.3 53400 AJ272176;AJ276246 Hs.684568 miscrna 1220 1602101 C17orf53 chromosome 17 open reading frame 53 17 17 17 q21.31 38927986 38948557 + 39574852 39595369 + 42219274 42239844 + 6480464 19079262;14702039;12477932;21963094;22504420 78995 Q8N3J3 ABBA01028385;AC004596;AK021656;AK291924;AL834295;AMYH01008410;BC000121;BI829278;CH471178;DC350778;NM_001171251;NM_024032 AAH00121;ACE86869;ACE87557;ADZ15728;BAB13867;BAF84613;CAD38968;EAW51629;EAW51630;EAW51631;EAW51632;NP_001164722;NP_076937;Q8N3J3 Hs.437059 2191327 MARC_17439-17440:1022701360:3 FLJ11594;MGC3130 hypothetical protein LOC78995;uncharacterized protein C17orf53 protein-coding ENSG00000125319 28460 08825 VALIDATED 1603574 C17orf50 chromosome 17 open reading frame 50 17 17 17 q12 30998050 31002232 + 31112029 31116211 + 34087916 34092098 + 15489334;12477932;19913121;20628086 146853 K7ENY3;K7EQG7;Q8WW18 ABBA01011234;AC006237;AI004987;AMYH01008355;AY557347;BC021727;CH471147;DB452451;NM_145272 AAI56775;AAS67921;EAW80130;NP_660315;Q8WW18 Hs.127194 1697790 RH102419 hypothetical protein LOC146853;uncharacterized protein C17orf50 protein-coding ENSG00000154768 29581 11239 VALIDATED 1601699 C17orf51 chromosome 17 open reading frame 51 17 17 17 p11.2 21101932 21124927 + 21374422 21395534 - 21431571 21454941 - 16625196;15489334;14702039;12477932 339263 A8MQB3;H0YGX3 ABBA01050469;AC138710;AC233702;AK023039;AK056436;AK090937;AK096256;AK123143;AMYH01008269;BC010612;BC019938;BC040371;BC052777;BC053952;BC132738;BC136630;BX640850;NM_001113434 A8MQB3;AAI32739;AAI36631;BAG51708;NP_001106905 Hs.514016;Hs.603880 1676524;5127443 D17S687;RH64889 FLJ12977;FLJ31874;FLJ33618;FLJ38937;FLJ41148 OTTHUMP00000163730;hypothetical protein LOC339263;uncharacterized protein C17orf51 protein-coding ENSG00000212719 27904 VALIDATED 1605250 C17orf58 chromosome 17 open reading frame 58 17 17 17 q24.2 62556881 62557883 - 63417679 63420227 - 65987217 65989765 - 6480464 15489334;12477932 284018 Q2M2W7 ABBA01028975;AC134407;AK026583;AMYH01008587;BC021702;BC036760;BC105124;BC112073;BX364842;NM_181655;NM_181656 AAH36760;AAI05125;AAI12074;NP_858041;NP_858042;Q2M2W7 Hs.90790 1699056 RH103103 MGC138278 UPF0450 protein C17orf58;hypothetical protein LOC284018 protein-coding ENSG00000186665 27568 14151 VALIDATED 1346268 C17orf7 chromosome 17 open reading frame 7 53399 1221 1606738 C17orf49 chromosome 17 open reading frame 49 17 17 17 p13.1 6943578 6946344 + 6858848 6861563 + 6918056 6920843 + 6480464 16964243;15489334;15146197;14702039;12477932;11181995;8889548;20850016;16712791;17207965;15960975;20516061;21139048;22623531 124944 F8W038;F8W1H0;K7ES76;Q8IXM2 ABBA01054845;AC040977;AI183273;AK055800;AK295795;AMYH01008065;BC040036;BM011108;BU596784;BU730728;CA449884;CB119197;CH471108;CN280697;NM_001142798;NM_001142799;NM_174893 AAH40036;ADQ33067;BAG58615;EAW90278;NP_001136270;NP_001136271;NP_777553;Q8IXM2 Hs.511801 5111633 RH81058 BAP18;HEPIS;MGC49942 BPTF associated protein of 18 kDa;BPTF-associated protein of 18 kDa;MLL1/MLL complex subunit C17orf49;OTTHUMP00000243066;OTTHUMP00000243067;OTTHUMP00000243068;OTTHUMP00000243069;OTTHUMP00000243070;OTTHUMP00000243071;chromatin complexes subunit BAP18;human embryo lung cellular protein interacting with SARS-CoV nsp-10 protein-coding ENSG00000258315 28737 14662 VALIDATED 1603302 C17orf59 chromosome 17 open reading frame 59 17 17 17 p13.1 8119895 8121808 - 8032376 8034115 - 8091651 8093564 - 16344560;12477932 54785 Q96GS4;Q9P1D2 ABBA01054901;AC129492;AI174760;AK000021;AK222506;AMYH01008088;BC009261;BC018880;BC070272;CA423621;CH471108;DA199264;DR006664;NM_017622 AAH09261;AAH18880;AAH70272;BAA90889;BAD96226;EAW90080;NP_060092;Q96GS4 Hs.129563 5121043 SHGC-56821 FLJ20014;PRO2472 OTTHUMP00000204665;hypothetical protein LOC54785;uncharacterized protein C17orf59 protein-coding ENSG00000196544 25939 13368 VALIDATED 1603500 C17orf67 chromosome 17 open reading frame 67 17 17 17 q22 51330963 51354807 - 52224273 52248249 - 54869274 54911256 - 6480464 19266077;12477932 339210 Q0P5P2 ABBA01041303;ABBA01041304;ABBA01041305;ABBA01041306;AC106858;AMYH01008495;AMYH01008496;AMYH01008497;BC041467;BC093905;BC093907;BU075516;CA308560;CH471109;NM_001085430 AAH93905;AAH93907;EAW94527;NP_001078899;Q0P5P2 Hs.658949 hypothetical protein LOC339210;uncharacterized protein C17orf67 protein-coding ENSG00000214226 27900 VALIDATED 1603589 C17orf64 chromosome 17 open reading frame 64 17 17 17 q23.2 57600356 57609277 + 55854655 55863545 + 58499865 58508787 + 6480464 12477932 124773 K7EQ24;Q86WR6 ABBA01035408;AC037475;AMYH01008529;BC036356;BC048806;CD742737;CH471179;DB448877;NM_181707 AAH36356;AAH48806;EAW51405;NP_859058;Q86WR6 Hs.129312 1681698 RH98573 OTTHUMP00000211620;hypothetical protein LOC124773;uncharacterized protein C17orf64 protein-coding ENSG00000141371 26990 14029 VALIDATED 1604716 C17orf66 chromosome 17 open reading frame 66 17 17 17 q12 31092173 31105452 - 31206073 31220008 - 34181960 34195895 - 14702039;12477932;20237496 256957 A2RTY3;K7EM23;K7ERP7 ABBA01011238;ABBA01011239;AC015849;AK057392;AK301774;AK301884;AK301943;AMYH01008355;AMYH01008356;BC033734;BC132681;BC144011;BX114438;CH471147;HC006976;HC044557;NM_152781 A2RTY3;AAH33734;AAI32682;ADR83073;ADZ16083;BAB71466;BAG63233;BAG63316;BAG63362;CBH19293;CBH30608;EAW80121;EAW80122;EAW80123;NP_689994 Hs.514820 1681781 RH93121 FLJ32830 OTTHUMP00000163881;hypothetical protein LOC256957;uncharacterized protein C17orf66 protein-coding ENSG00000172653 26548 08142 VALIDATED 1603896 C17orf77 chromosome 17 open reading frame 77 17 17 17 q25.1 69173532 69182802 + 70092652 70101943 + 72581057 72590348 + 14702039 146723 E9PQI6;Q96MU5 ABBA01028836;AC079325;AK056444;AMYH01008625;CH471099;NM_152460 AAI48445;AAI53034;EAW89172;NP_689673;Q96MU5 Hs.350775 5015861;5037552;7185938 D10S16;D8S2279 FLJ31882 OTTHUMP00000070876;hypothetical protein LOC146723;uncharacterized protein C17orf77 protein-coding ENSG00000182352 26480 08112 VALIDATED 1603374 C17orf72 chromosome 17 open reading frame 72 17 17 17 q23.3 56463786 56469714 + 59429449 59435396 + 62075711 62081645 + 14702039;12477932;16344560 92340 B4DG13;J3KRF4;J3KRR4;J3QR92;P0C7W0 ABBA01035313;AC005803;AK021786;AK294360;AK302960;AK304254;AL161972;AMYH01008552;BC030709;BC045676;CH471109;DB037384;DC358808;NM_001164257;NM_001191029;NM_001191030;NM_001191031 BAG51052;BAG57624;BAG64111;BAG65120;EAW94224;NP_001157729;NP_001177958;NP_001177959;NP_001177960;P0C7W0 Hs.708161 1664046;1768523;2119599;2149998 A004O13;D17S1976;D17S2034;WI-15726 DKFZp761M2312;FLJ11724 hypothetical protein LOC92340;uncharacterized protein C17orf72 protein-coding ENSG00000224383 25673 VALIDATED 1344979 C17orf8 chromosome 17 open reading frame 8 53398 1222 1604207 C17orf74 chromosome 17 open reading frame 74 17 17 17 p13.1 7354821 7356773 + 7269659 7271611 + 7328935 7330887 + 12477932 201243 I3L1F6;Q0P670 ABBA01054865;AC113189;AMYH01008082;BC031286;BC044816;BC048010;CH471108;HC007082;NM_175734 CBH19346;EAW90191;EAW90192;EAW90193;NP_783861;Q0P670 Hs.380704 1690460 RH98448 hypothetical protein LOC201243;uncharacterized protein C17orf74 protein-coding ENSG00000184560 27315 14128 VALIDATED 1604593 C17orf70 chromosome 17 open reading frame 70 FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 76151328 76163810 - 77117387 77130023 - 79506911 79519429 - 6480464 17396147;15146197;14702039;12973351;12477932;8125298;16344560;18285517;20347428;18029348;20347429;16116422;21832049;22705371;20360068 80233 A4ZI32;E7EVV8;F5GZS4;F5H095;F5H5G6;I3L2L9;J3KQD8;Q0VG06 ABBA01032153;AC137896;AC139149;AK024644;AK025828;AK054713;AK225370;AL834374;AMYH01008715;AMYH01008716;AMYH01008717;BC001724;BC008883;BC021968;BC117139;BC117141;BC143861;CH471099;CN366430;DA103390;DQ989324;NM_025161;NR_033338 AAH01724;AAH21968;AAI17140;AAI17142;ABK88282;ADZ16080;BAB14944;BAB15251;BAG51415;CAD39037;EAW89655;EAW89656;EAW89657;EAW89658;EAW89659;EAW89660;NP_079437;Q0VG06 Hs.313905 2187795;5014053 D1S3693;G69480 FAAP100;FLJ22175;FLJ30151 Fanconi anemia associated protein 100 kDa subunit;Fanconi anemia core complex 100 kDa subunit;Fanconi anemia-associated protein of 100 kDa;Fanconi anemia-associated protein, 100kDa;OTTHUMP00000236787 APPROVED protein-coding ENSG00000185504 26171 07982 611301 VALIDATED 1606782 C17orf62 chromosome 17 open reading frame 62 17 17 17 q25.3 76992212 77000132 - 77993808 78001983 - 80400462 80408707 - 6480464 18464913;16344560;15489334;14702039;12878157;12477932;8125298;17207965;15146197;8889548;21139048;21503106 79415 H0Y2X1;J3KS78;J3KSB6;J3KSJ5;J3KTF4;J3KTI1;J3QKS6;J3QKZ6;J3QLB7;J3QQQ4;J3QRG5;J3QRZ2;J3QS53;Q969P4;Q9BQA9 ABBA01019679;AC132938;AF269290;AK027743;AK054876;AK056342;AK074950;AK090484;AK092865;AK225389;AK309201;AMYH01008733;AU280357;BC003595;BC004171;BG338078;BG716477;BM147030;BM801484;BU734211;BX451530;CH471099;CN260096;DA008508;DA342707;DA436899;DA453235;DA500882;DA663677;DA716299;DA969007;DB113745;NM_001033046;NM_001100407;NM_001100408;NM_001193653;NM_001193654;NM_001193655;NM_001193657;NR_036514;NR_036516;NR_036517;NR_036518;NR_036519 AAG23173;AAH03595;AAH04171;ADQ32838;BAB55335;BAB70818;BAB71156;BAC03465;EAW89776;EAW89777;EAW89778;EAW89779;EAW89780;EAW89781;EAW89782;EAW89783;EAW89784;EAW89785;EAW89786;EAW89787;EAW89788;EAW89789;EAW89790;NP_001028218;NP_001093877;NP_001093878;NP_001180582;NP_001180583;NP_001180584;NP_001180586;Q9BQA9 Hs.163113 1696972;2179889;5014051;5015619;5022200;5037552;5091076 D11S3114;D8S2278;D8S2279;G06994;L18426;RH101958;RH70292 FLJ00406;FLJ90469;MGC4368 hypothetical protein LOC79415;uncharacterized protein C17orf62 protein-coding ENSG00000178927 28672 14630 VALIDATED 1602088 C17orf84 chromosome 17 open reading frame 84 84185 Q9H656 AK026247 BAB15410;Q9H656 Hs.684545 FLJ22594 protein-coding 26206 1606168 C17orf76-AS1 C17orf76 antisense RNA 1 17 17 17 p11.2 16245200 16276873 + 16283081 16286067 + 16342301 16373962 + 6480464 16712791;17567985;16344560;15342556;15146197;12477932;10393949;8889548;19322201;17207965;21900206 125144 Q8N1F1;Q96EF2 ABBA01035652;AC093484;AC127540;AJ012499;AK098643;AK307982;AK308482;AK309961;AK311247;AMYH01008149;BC012396;BC019833;BC027986;BC040159;BI333700;BP353162;BP377665;BP870476;BQ070126;BQ954204;BU165462;BU506593;BU599615;BX538291;CB150672;CD050014;CD389053;CF126952;CH471222;CN297624;CR989654;DA131201;DA193585;DA383448;DA440445;DA485648;DA494627;DA769571;DA793334;DA802938;DA857697;DA867958;DB258221;DW409012;NR_027158;NR_027159;NR_027160;NR_027161;NR_027162;NR_027163;NR_027164;NR_027165;NR_027166;NR_027167;NR_027168;NR_027169;NR_027170;NR_027171;NR_027172;NR_027173;NR_027174;NR_027175;NR_027176;NR_027177;NR_027178;NR_027179;NR_027667;NR_045021;NR_045022;NR_045023;NR_045024;NR_045025;NR_045026;NR_045027;NR_045028;NR_045029 AAH12396;AAH19833;AAH27986;AAH40159;ADQ31723;CAD98086;EAX04510;EAX04511;EAX04512;EAX04513;EAX04514;EAX04515;Q8N1F1 Hs.368934 1685197;1686254;1686600;1687862;1754423;1783516;2117735;2160830;2170358;2170360 D17S1366E;D17S1661;RH36840;RH66249;RH79195;RH94093;RH94205;SHGC-132464;SHGC-149766;SHGC-3233 C17orf45;FLJ25777;MGC40157;NCRNA00188;TSAP19 APPROVED miscrna ENSG00000175061 28619 17549 PREDICTED 1353586 C17orf9 chromosome 17 open reading frame 9 53397 1223 1602870 C17orf75 chromosome 17 open reading frame 75 17 17 17 q11.2 27568590 27579396 - 27682494 27693302 - 30655460 30669228 - 6480464 18029348;15489334;12477932;9110174;8619474;15342556;22797925 64149 J3KRR1;J3KT97;J3QKQ1;J3QRW7;J9JIC5;K7EII1;K7EIQ2;K7ERX0;Q9HAS0 AB062437;ABBA01000711;ABBA01000712;AC005899;AF052093;AF305686;AMYH01008335;AMYH01008336;BC026017;BC035715;BC047325;BC054035;BP308900;CA444740;CD706845;CH471147;NM_022344 AAG23214;AAH26017;AAH35715;AAH47325;AAH54035;BAB93500;EAW80238;NP_071739;Q9HAS0 Hs.655257 1649039;1857838;2138048;5014003;5014051;5014740;5015404;5015881;5015961;5016478;5016596;5020740;5022200;5022463;5022578;5022651;5024601;5037552;5109281 D11S2921;D15S1477;D17S1136;D17S1476E;D17S610;D1S1423;D1S1425;D3S1673;D8S2278;D8S2279;GDB:335751;GDB:434012;GDB:631802;L17705;L17809;L18426;RH18407;RH91950;SHGC-33551 NJMU-R1 protein Njmu-R1;spermatogenesis-related protein protein-coding 30173 11392 VALIDATED 1601914 C17orf82 chromosome 17 open reading frame 82 17 17 17 q23.2 58590141 58591670 + 56843894 56845423 + 59489112 59490641 + 6480464 12477932;19893584;20383146;17207965;23263486 388407 Q86X59 ABBA01205205;AC005746;AMYH01008533;BC046200;CH471179;NM_203425 AAH46200;ADQ33068;EAW51427;NP_982249;Q86X59 Hs.434459 putative uncharacterized protein C17orf82 protein-coding ENSG00000187013 32699 14202 PREDICTED 2299176 C17orf96 chromosome 17 open reading frame 96 17 17 17 q12 33488881 33492112 - 36827956 36831187 - 36827956 36831187 - 6480464 16625196 100170841 A6NHQ4 ABBA01031909;ABBA01031910;AC006449;AMYH01008366;CH471152;NM_001130677 A6NHQ4;EAW60520;NP_001124149 Hs.445574 1768569;2128589 RH48102;SGC31161 OTTHUMP00000163180;Uncharacterized protein ENSP00000317905;hypothetical protein LOC100170841;uncharacterized protein C17orf96 protein-coding ENSG00000179294 34493 PREDICTED 1602416 C17orf78 chromosome 17 open reading frame 78 17 17 17 q12 32555471 32572168 + 32807098 32823775 + 35732985 35749662 + 14702039;12477932;19913121;20628086;17207965;23535730 284099 Q8N4C9 ABBA01001373;AC068400;AK096966;AMYH01008361;BC034672;CH471199;NG_023295;NM_173625 AAH34672;ADQ31592;BAC04914;EAW57585;EAW57586;NP_775896;Q8N4C9 Hs.439154 FLJ39647;MGC34759 hypothetical protein LOC284099;uncharacterized protein C17orf78 protein-coding ENSG00000167230 26831 08262 VALIDATED 1349999 C18orf12 chromosome 18 open reading frame 12 18 q21.1 44032670 44033206 + 84322 Q96KH6 AB027121 BAB47121;Q96KH6 Hs.334493 HEIL1;HsT2508 protein-coding 24918 2299180 C17orf98 chromosome 17 open reading frame 98 17 17 17 q12 33652304 33658595 - 34244867 34251168 - 36991341 36997642 - 16625196 388381 A8MV24 ABBA01031895;ABBA01031896;AC006449;AMYH01008368;AMYH01008369;AW182930;CH471152;DY654789;NM_001080465 A8MV24;EAW60538;NP_001073934 Hs.250182 1733352;2119964;2164499 D17S1181;D7S392;G38262 OTTHUMP00000163183;Uncharacterized protein LOC388381;hypothetical protein LOC388381;uncharacterized protein C17orf98 protein-coding ENSG00000214556 34492 VALIDATED 1626571 C17orf89 chromosome 17 open reading frame 89 17 17 17 q25.3 75843655 75845642 + 76827706 76829693 + 79213111 79215098 + 17287340;12477932 284184 A1L188;I3L0T5;I3L4C8 AA534550;ABBA01032133;AC027601;AMYH01008707;BC079831;BC127837;CH471099;NM_001086521 A1L188;AAI27838;EAW89640;NP_001079990 Hs.356545 2155294 RH47021 hypothetical protein LOC284184;uncharacterized protein C17orf89 protein-coding ENSG00000224877 33551 PREDICTED 2299182 C17orf99 chromosome 17 open reading frame 99 17 17 17 q25.3 72738832 72758765 + 76156151 76162364 + 76142434 76162364 + 15340161;12975309;11181995 100141515 K7EIQ9;K7ELL6;Q6UX52 ABBA01002942;ABBA01002943;AC021593;AK303128;AMYH01008663;AY358510;CH471099;NM_001163075 AAQ88874;BAG64234;EAW89498;NP_001156547;Q6UX52 Hs.633034 1694710;5015961;5109281 D15S1477;D1S1425;RH121932 FLJ50084;UNQ464 GLPG464;OTTHUMP00000204536;hypothetical protein LOC100141515;uncharacterized protein C17orf99 protein-coding ENSG00000187997 34490 VALIDATED 1602883 C17orf80 chromosome 17 open reading frame 80 17 17 17 q25.1 67811920 67828219 + 68740371 68756693 + 71228776 71245098 + 6480464 17213182;16381901;15489336;12477932;11230166;11076863;8889548 55028 I3L072;J3KT60;J3KTJ7;J3QLV1;Q9BSJ5 ABBA01028869;ABBA01028870;AC087301;AC097641;AK000728;AK027166;AK292838;AK301905;AL136740;AMYH01008618;AY163812;AY239293;BC005005;BU736238;BU788930;CH471099;DT220543;NM_001100621;NM_001100622;NM_017941 AAH05005;AAO25513;AAP72185;BAA91344;BAB15680;BAF85527;BAH13581;CAB66674;CAL38003;EAW89117;EAW89118;EAW89119;EAW89120;NP_001094091;NP_001094092;NP_060411;Q9BSJ5 Hs.12929 1739645;1848606;1849317;1849319;2137883 A006I05;D17S1722E;D17S602;G20831;RH36218 FLJ20721;HLC-8;MIG3;SPEP1 cell migration-inducing gene 3 protein;human lung cancer oncogene 8 protein;lung cancer-related protein 8;migration-inducing protein 3;sperm-expressed protein 1;uncharacterized protein C17orf80 protein-coding ENSG00000141219 29601 17108 VALIDATED 1626518 C18orf33 chromosome 18 open reading frame 33 18 q22.3 70946828 70947196 - 14702039 100113406 AC015819;AK096231;XM_001714254;XM_001721238;XM_001721257 BAC04734;Q8N8S9;XP_001714306;XP_001721290;XP_001721309 Hs.638428 FLJ38912 protein-coding 31691 1354305 C18orf15 chromosome 18 open reading frame 15 18 13229542 13230722 + 14702039 147276 Q96N68 AK055900 1762767;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-146549 26447 1354418 C18orf41 chromosome 18 open reading frame 41 401894 XM_377496 29311 1354365 C18orf23 chromosome 18 open reading frame 23 18 42168837 42169319 + 14702039 147341 AK091537;NM_152470 5493135 UniSTS:484412 26612 5131749 C18orf42 chromosome 18 open reading frame 42 18 18 18 p11.31 5028106 5081689 - 5135276 5187507 - 5143672 5197255 - 16344560 642597 J3KS16;P0CW23 ABBA01049876;AMYH01008784;AP001496;AP005380;NM_001145194 NP_001138666;P0CW23 Hs.437160 1682856;1734590;2159260 D18S943E;GDB:313337;RH91766 hypothetical protein LOC642597;putative uncharacterized protein C18orf42 protein-coding 28285 VALIDATED 1606638 C17orf97 chromosome 17 open reading frame 97 17 17 17 p13.3 361212 365198 + 260434 264713 + 260118 264457 + 6480464 12477932 400566 H7C5B9;I3L0T0;Q6ZQX7 ABBA01015238;AC141424;AK128660;AMYH01007974;BC057385;BC070116;BC141806;BG056786;NM_001013672 AAH57385;AAH70116;AAI41807;BAC87555;NP_001013694;Q6ZQX7 Hs.499607 1656015 RH12536 OTTHUMP00000216306;hypothetical protein LOC400566;uncharacterized protein C17orf97 protein-coding ENSG00000187624 33800 18416 VALIDATED 1347622 C18orf21 chromosome 18 open reading frame 21 18 18 18 q12.2 30360467 30367120 + 31806586 31813239 + 33552588 33559250 + 737633;6480464 12477932 16964243;15489334;14702039;21832049;21139048 83608 K7EM84;L7N2F3;Q32NC0;Q8TBS0 AA648431;ABBA01022435;AC091060;AF277182;AF277189;AMYH01008938;AW967900;AY631401;BC025950;BC108730;BC119765;BC119766;BX460890;CH471088;DN991579;NM_001201474;NM_001201475;NM_001201476;NM_031446;W84353 AAH25950;AAI08731;AAI19766;AAI19767;AAK07541;AAK07547;AAT51696;ABM83053;ABM86246;EAX01362;EAX01363;EAX01364;NP_001188403;NP_001188404;NP_001188405;NP_113634;Q32NC0 Hs.37883 1857457 RH45429 HsT3108;MGC131953;PNAS-124;PNAS-131;XTP13 HBV X-transactivated gene 13 protein;HBV X-transactivated protein 13;HBV XAg-transactivated protein 13;OTTHUMP00000158663;OTTHUMP00000163408;UPF0711 protein C18orf21;chromosome 18 open reading frame 21;hypothetical protein LOC83608 protein-coding ENSG00000141428 28802 12688 VALIDATED 1354422 C18orf57 chromosome 18 open reading frame 57 q22.3 54523 AL137361 Hs.98173 DKFZP434C0826 hypothetical protein LOC54523;uncharacterized protein LOC54523 protein-coding 25254 1604808 C17orf85 chromosome 17 open reading frame 85 17 17 17 p13.2 3726255 3761355 - 3661566 3675071 - 3710042 3749545 - 21145461;16344560;14702039;12477932;11412301;8125298;21832049;15342556;19471022;21693764;8889548;21628590 55421 K7ELP6;K7EQA5;Q53F19 ABBA01054747;ABBA01054748;AC005940;AC116914;AJ277841;AK056724;AK125048;AK223470;AMYH01008033;BC010707;BC011733;BM974475;BP344033;CH471108;CS185602;DA403386;DA815746;DA855232;NM_001114118 AAH10707;AAI46420;AAI48857;BAD97190;BAG54129;CAB91001;CAJ42783;EAW90477;EAW90478;EAW90479;NP_001107590;Q53F19 Hs.120963 1740125;2109401;2144294;2149683;2173821;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;D9S1767;HSA277841__6597;STS-H93344;WI-11637;WI-22144 ELG;FLJ32162;HSA277841 ELG protein;uncharacterized protein C17orf85 protein-coding 24612 17116 VALIDATED 1318467 C18orf25 chromosome 18 open reading frame 25 18 18 18 q21.1 40560969 40654391 + 42007986 42100953 + 43753988 43846955 + 737633;6480464 12477932 19240061;17081983;16344560;16189514;15722956;15489334;22863883;19322201;19471022;21139048;21693764 147339 K7EQH1;K7ER64;Q5BIX2;Q96B23 ABBA01022321;ABBA01022322;ABBA01022323;ABBA01022324;AC021763;AC118647;AI374757;AK289738;AK292981;AL713661;AL832027;AMYH01008973;BC016149;BC084579;BG497739;BK005125;BM561576;BU192741;BU663975;BX640683;CH471088;CS185648;DA818562;DB284444;NM_001008239;NM_145055 AAH16149;AAH84579;BAF82427;BAF85670;CAD28470;CAD89920;CAE45812;CAJ42829;DAA05329;EAX01472;EAX01473;NP_001008240;NP_659492;Q96B23 Hs.116486 1342237;1686100;2123242;2150736 D18S1143;RH36388;RH91500;WI-14742 ARKL1;MGC12909;MGC87799 ARKadia-like 1;hypothetical protein LOC147339;uncharacterized protein C18orf25 protein-coding ENSG00000152242 28172 12690 VALIDATED 1349119 C18orf61 uncharacterized LOC497259 18 p11.22 12200778 12224710 + 497259 AA393962;AA776829;ABBA01074011;AI125564;AI202918;AI683092;AMYH01008829;AMYH01008830;AP005264;NR_049896 Hs.451609;Hs.541137 chromosome 18 open reading frame 61 APPROVED miscrna 26362 PREDICTED 5132403 C18orf63 chromosome 18 open reading frame 63 18 18 18 q22.3 68850455 68893768 + 70134026 70177404 + 71983110 72026422 + 644041 J3QRQ0;Q68DL7 ABBA01056325;AC008021;AC090398;AMYH01009096;CR749350;HC006926;NM_001174123 CAH18203;CBH19268;NP_001167594;Q68DL7 Hs.465414 1763713 SHGC-147382 DKFZP781G0119 hypothetical protein LOC644041;uncharacterized protein C18orf63 protein-coding ENSG00000206043 40037 PREDICTED 1345723 C18orf58 chromosome 18 open reading frame 58 18 p11.22 10784068 10880690 - 14702039 284222 AK092226;AP005117;AP005120;NM_173817 BAC03832;NP_776178;Q8NAR6 Hs.436902 FLJ34907 protein-coding 26631 1626573 C18orf32 chromosome 18 open reading frame 32 18 18 18 q21.1 43863389 43868956 - 45262028 45267599 - 47007548 47013644 - 6480464 12761501;12477932;8889548;21139048;21890473 497661 Q8TCD1 AB097012;ABBA01018653;AC100778;AK027111;AK291882;AMYH01008990;BC022357;BC093004;BF210402;BF512018;BP395434;CB852935;NM_001035005;NM_001199346 AAH22357;AAH93004;ADR82680;BAC77365;BAF84571;NP_001030177;NP_001186275;Q8TCD1 Hs.603040 1660968;1730777;1852898;2126975 D18S103E;D18S1247;RH70037;SGC30182 FLJ23458 UPF0729 protein C18orf32;hypothetical protein LOC497661;putative NF-kappa-B-activating protein 200;putative NFkB activating protein protein-coding 31690 VALIDATED 1603142 C18orf49 chromosome 18 open reading frame 49 q21.33 12477932 400653 AK000229;BC047606 Hs.699275 FLJ20222 protein-coding 25977 1319491 C19orf12 chromosome 19 open reading frame 12 This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q12 26887993 26904652 - 34881633 34898292 - 30189793 30206696 - 737633;6480464 12477932 16344560;14702039;22704260;20098747;21832049;23269600;23166001;21981780;23857908;22691760 83636 F8W6J3;K7EPS8;Q9NSK7 ABBA01039545;ABBA01039546;ABBA01039547;AC010513;AC010644;AK057185;AL162066;AMYH01009673;BC004957;BC009946;BC017211;BC063518;BG720088;BG722048;BI753584;DA064969;DA189248;DA348401;DA708831;DB541407;NG_031970;NM_001031726;NM_001256046;NM_001256047;NM_031448;NR_045690;NR_045691;NR_045692 AAH04957;AAH09946;AAH17211;AAH63518;BAG51878;CAB82403;NP_001026896;NP_001242975;NP_001242976;NP_113636;Q9NSK7 Hs.529094 1666497;1685656;1689257;1778111;1853830;2116023;2134479;5015619;5022200;5037552 D11S3114;D19S1092;D8S2279;L18426;RH65212;RH65823;RH65947;RH76650;SGC34217;STS-N21279 DKFZp762D096;MGC10922;NBIA3;NBIA4;SPG43 OTTHUMP00000194763;OTTHUMP00000194765;hypothetical protein LOC83636;neurodegeneration with brain iron accumulation 3;neurodegeneration with brain iron accumulation 4;protein C19orf12;spastic paraplegia 43 (autosomal recessive);uncharacterized protein C19orf12 APPROVED protein-coding 25443 12696 614297;614298 VALIDATED 1342903 C19orf18 chromosome 19 open reading frame 18 19 19 19 q13.43 55513281 55529383 - 63161617 63177716 - 58469805 58485902 - 737633;6480464 12477932 15489334;21832049;23251661 147685 Q8NEA5 ABBA01020789;AC010326;AMYH01010031;BC033933;CH471135;NM_152474 AAH33933;EAW72545;NP_689687;Q8NEA5 Hs.134209 MGC41906 hypothetical protein LOC147685;uncharacterized protein C19orf18 protein-coding ENSG00000177025 28642 12699 PREDICTED 1323450 C18orf8 chromosome 18 open reading frame 8 This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013] 18 18 18 q11.2 17899440 17927737 + 19337460 19365744 + 21083462 21111746 + 737633;6480464 12477932 17081983;15489334;14702039;20562859;22939629;21139048;23022380 29919 B7Z201;B7Z2Y1;B7Z3Q1;K7EIS6;K7EKN1;K7EL80;K7ENL9;K7EQ65;K7EQJ3;Q96DM3 ABBA01022632;AC010853;AC026634;AF143536;AK027106;AK057192;AK294169;AK295246;AK296230;AMYH01008887;BC002950;BC008305;CH471088;CN481504;NG_033119;NM_001276342;NM_013326;NR_075075;NR_075076 AAD33909;AAH02950;AAH08305;BAB71377;BAH11687;BAH12017;BAH12287;EAX01155;EAX01156;EAX01157;NP_001263271;NP_037458;Q96DM3 Hs.464779 1692998;1699642;1730145;2148313;2167999;2171440;5018027 AL034225;D18S75E;NPC1_s22;RH103425;RH48826;RH67909;WI-14881 FLJ23453;HsT2591;MIC1;Mic-1 colon cancer associated protein Mic1;colon cancer-associated protein Mic1;uncharacterized protein C18orf8 protein-coding ENSG00000141452 24326 12693 VALIDATED 1345093 C18orf56 chromosome 18 open reading frame 56 18 18 18 p11.32 524281 533121 - 639620 648340 - 649620 658340 - 6480464 18482256;8889548;16189514;12477932;19913121;20628086 494514 Q8TAI1 ABBA01049815;ABBA01049816;AK289986;AMYH01008772;AMYH01008773;AP001178;BC028301;BM695182;CH471113;NM_001012716 AAH28301;ADZ15719;BAF82675;EAX01723;NP_001012734;Q8TAI1 Hs.274959 2109167;2138368;2142990 CLUL1_9521;SHGC-31651;WI-22706 putative uncharacterized protein C18orf56 protein-coding ENSG00000176912 29553 18668 VALIDATED 1348009 C19orf31 chromosome 19 open reading frame 31 19 p13.3 4860216 4861013 - 14702039 404664 Q8N1I2 AC027319;AK098038;NM_001014373 BAC05219;NP_001014395;Q8N1I2 Hs.620488 FLJ40719 protein-coding 17573 1348374 C18orf54 chromosome 18 open reading frame 54 18 18 18 q21.2 48740968 48764203 + 50139169 50162386 + 51885171 51908404 + 6480464 16189514;15489334;14702039;12477932;17207965;19322201 162681 I7GY12;J3KRX3;J3KS56;Q8IYD9 AB267906;AB330143;AB330144;AB353076;AB353077;ABBA01018716;AC087395;AC093462;AK126503;AMYH01009013;BC036054;BC043651;BX640877;CH471096;NM_173529 AAH36054;ADQ32333;BAC86570;BAM28642;BAM28643;BAM34476;BAM34477;BAM35939;CAE45934;EAW63006;NP_775800;Q8IYD9 Hs.208701 1662947;1691136;1701048 RH104151;RH45188;RH80534 LAS2;MGC33382 OTTHUMP00000163556;hypothetical protein LOC162681;hypothetical protein V1;hypothetical protein V3;hypothetical protein V4;hypothetical protein V5;lung adenoma susceptibility protein 2;uncharacterized protein C18orf54 protein-coding ENSG00000166845 13796 11334 613258 VALIDATED 1316225 C19orf26 chromosome 19 open reading frame 26 19 19 19 p13.3 1164180 1172223 - 1180947 1188990 - 1229947 1237990 - 737633;6480464 12477932 16341674;17081983;15489334;15057824;17207965 255057 K7EIS9;K7EJP2;K7ELJ5;Q8N350 ABBA01002632;ABBA01002633;ABBA01002634;ABBA01002635;ABBA01002636;AC004221;AMYH01009232;AMYH01009233;AMYH01009234;AMYH01009235;AMYH01009236;AMYH01009237;AMYH01009238;AW163263;BC028156;BM263341;BM743507;BX094586;CH471139;CK824551;NM_152769 AAC04305;AAH28156;ADQ31791;EAW69535;EAW69536;EAW69537;NP_689982;Q8N350 Hs.346575 1681596;2219926 MIDN__6314;RH80863 DOS;MGC40084 downstream of Stk11;protein Dos protein-coding ENSG00000099625 28617 16627 VALIDATED 1346714 C19orf24 chromosome 19 open reading frame 24 19 19 19 p13.3 1209752 1213531 + 1226551 1230227 + 1275520 1279243 + 737633;6480464 12477932 16847563;15489334;14702039;8889548;8125298 55009 Q9BVV8 ABBA01002636;AC004258;AK000647;AK096105;AK225502;AMYH01009239;BC000890;BC012080;BG333480;BM675280;BX402818;CH471139;NM_017914 AAH00890;BAA91305;EAW69518;EAW69519;NP_060384;Q9BVV8 Hs.591383 1853080;2150989 A008K10;WI-17337 FLJ20640 OTTHUMP00000204659;OTTHUMP00000204660;hypothetical protein LOC55009;uncharacterized membrane protein C19orf24 protein-coding 26073 12702 VALIDATED 1345552 C19orf10 chromosome 19 open reading frame 10 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4594232 4607089 - 4608557 4621415 - 4657557 4670415 - 6480464 17362502;16713569;15489334;15057824;14641539;12477932;12077275;16169070;21128247;21139048;21906983 56005 M0QXF7;M0QYN0;Q969H8 ABBA01056051;ABBA01056052;AC005339;AC005594;AF282264;AK098829;AL365373;AL365374;AMYH01009341;AMYH01009342;BC003639;BC010129;BC014655;BG484758;CH471139;NM_019107 AAC27824;AAC33800;AAH03639;AAH10129;AAH14655;CAB96947;CAB96948;EAW69202;EAW69203;NP_061980;Q969H8 Hs.465645 1658231 RH16158 EUROIMAGE1875335;IL25;IL27;IL27w;R33729_1;SF20 UPF0556 protein C19orf10;hypothetical protein LOC56005;interleukin 25;interleukin 27 working designation;interleukin-25;stromal cell-derived growth factor;stromal cell-derived growth factor SF20 APPROVED protein-coding ENSG00000074842 16948 08415 606746 VALIDATED 2302125 C19orf38 chromosome 19 open reading frame 38 19 19 19 p13.2 10853950 10875203 + 10820089 10841473 + 10959106 10980360 + 6480464 15057824;12477932 255809 A8MVS5 ABBA01029889;ABBA01029890;ABBA01029891;ABBA01029892;ABBA01029893;AC007565;AMYH01009480;BC157863;CH471106;NM_001136482 A8MVS5;AAI57864;EAW84154;NP_001129954 Hs.440535 HIDE1 Highly expressed in immature dendritic cell transcript 1;protein HIDE1 protein-coding ENSG00000214212 34073 PROVISIONAL 1352021 C19orf35 chromosome 19 open reading frame 35 19 19 19 p13.3 2208806 2216106 - 2225631 2233175 - 2274631 2282181 - 14702039;12477932;21998595 374872 K7ELE7;Q6ZS72 ABBA01002716;ABBA01002717;AC004152;AK127680;AMYH01009278;AMYH01009279;BC107678;CH471139;NM_198532 BAC87082;EAW69392;NP_940934;Q6ZS72 Hs.511803 5014051;5015619;5037552 D11S3114;D8S2278;D8S2279 FLJ45778 putative uncharacterized protein C19orf35 protein-coding ENSG00000188305 24793 12707 VALIDATED 1352315 C19orf25 chromosome 19 open reading frame 25 19 19 19 p13.3 1407199 1413220 - 1424200 1430228 - 1473200 1479228 - 6480464 16189514;16303743;15489334;15342556;14702039;12477932;9110174;8619474;19913121;20628086;17207965;22939629;20360068;21628590 148223 E7EP72;K7EK56;K7ELZ1;K7ENK8;K7EQW1;K7ER12;Q9UFG5 ABBA01002646;AC027307;AK075267;AK093985;AK297944;AL122089;AMYH01009251;AY007120;BC018441;BP210473;CH471139;CQ783391;NM_152482 AAH18441;ADQ32390;BAC04262;BAG52098;BAG60260;CAB59260;CAF86596;EAW69495;NP_689695;Q9UFG5 Hs.532840 1688400;1739943;2116335;2154576;5123943 D2S2123;RH15927;RH39051;STS-N99984;WI-14332 FLJ36666 UPF0449 protein C19orf25;hypothetical protein LOC148223 protein-coding ENSG00000119559 26711 12703 VALIDATED 1354281 C19orf33 chromosome 19 open reading frame 33 19 19 19 q13.2 35597040 35597882 + 43486644 43487486 + 38794804 38795646 + 6480464 11606055;18507030;17309599;17081983;16189703;15489334;14981917;12477932;11080599;20432246;21832049;22886722 64073 K7EP05;K7EQG3;Q9GZP8 AB038317;AB038318;ABBA01040678;AC011479;AF213678;AF325216;AMYH01009779;BC008888;BC014264;BC060319;CH471126;NM_033520 AAG43574;AAH14264;AAH60319;AAK01421;BAB18465;BAB18466;EAW56769;EAW56770;NP_277055;Q9GZP8 Hs.631544 1685772 RH94089 H2RSP;IMUP;IMUP-1;IMUP-2;MGC39135;MGC75180 HAI-2 related small protein;HAI-2-related small protein;hepatocyte growth factor activator inhibitor type 2-related small protein;immortalization up-regulated protein;immortalization-upregulated protein protein-coding ENSG00000167644 16668 12706 PROVISIONAL 1602089 C19orf44 chromosome 19 open reading frame 44 19 19 19 p13.11 16509042 16534003 + 16468205 16493163 + 16607205 16632163 + 6480464 16344560;12477932;16196087;21900206 84167 M0QXR9;M0QYD0;M0QZ23;M0R141;M0R1E2;M0R2B3;Q9H6X5 ABBA01051148;ABBA01051149;AC008764;AK025395;AK026145;AK225118;AK225678;AK297781;AK311324;AMYH01009562;BC027869;CH471106;DA491717;NG_031959;NM_032207 AAH27869;ADZ15432;BAB15125;BAG60125;EAW84547;EAW84548;NP_115583;Q9H6X5 Hs.631627 1655567;1666730;1722419;1770250;2109135;2132389;2132914;2132916;5022651 1980;A001Y07;CHERP_9130;D11S2921;D19S680E;G19773;G60283;RH16018;RH47535 FLJ21742;FLJ22492 hypothetical protein LOC84167;uncharacterized protein C19orf44 protein-coding ENSG00000105072 26141 08641 VALIDATED 1605898 C19orf40 chromosome 19 open reading frame 40 FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] 19 19 19 q13.11 30156740 30161565 + 38155018 38159814 + 33463148 33467974 + 6480464 18995830;18206976;18174376;17289582;16344560;15489334;12477932;18285517;20347428;20670894;17207965;20064461;20347429;21832049;18029348;22705371 91442 K7EKQ4;Q9BTP7 ABBA01039606;AC011449;AK128668;AMYH01009698;BC003535;BC010170;BC020247;DA006539;NM_152266 AAH03535;AAH10170;AAH20247;ADQ32151;BAG54708;NP_689479;Q9BTP7 Hs.579899 5022322;5022463 D11S2560;D3S1673 FAAP24;FLJ46828;MGC32020 Fanconi anemia-associated protein of 24 kDa;Fanconi anemia-associated protein, 24 kDa APPROVED protein-coding 28467 14547 610884 VALIDATED 1602810 C19orf45 chromosome 19 open reading frame 45 19 19 19 p13.2 7434951 7445845 + 7468485 7479336 + 7562445 7573336 + 6480464 16344560;14702039;12477932 374877 M0QY34;M0QYK1;M0R096;M0R0L7;Q8NA69 ABBA01010901;AC008878;AK093103;AK301623;AMYH01009405;BC029824;BC034779;DB037908;NM_198534 AAH29824;AAH34779;BAC04057;BAG63108;NP_940936;Q8NA69 Hs.631862 1701444;1760703;2220242 AB070080;RH104354;SHGC-144236 FLJ35784;FLJ56642 OTTHUMP00000211650;hypothetical protein LOC374877;uncharacterized protein C19orf45 protein-coding ENSG00000198723 24745 13420 VALIDATED 1604305 C19orf43 chromosome 19 open reading frame 43 19 19 19 p13.2 12731165 12735240 - 12702454 12706529 - 12841454 12845529 - 16189514;15489334;14702039;12477932;21832049;22939629;17332742;21890473;21906983 79002 K7ELS0;K7EN60;K7ERU7;Q9BQ61 ABBA01029777;AC018761;AF061732;AK027588;AK315754;AMYH01009495;BC000216;BC004533;BC015347;BC040846;CH471106;NM_024038 AAG43143;AAH00216;AAH04533;AAH15347;ABM82375;ABM85554;BAG38108;EAW84302;NP_076943;Q9BQ61 Hs.515155 1646898;1848376 D1S3567;RH16594 MGC2803;fSAP18 My029 protein;hypothetical protein LOC79002;uncharacterized protein C19orf43 protein-coding ENSG00000123144 28424 14528 PREDICTED 1605879 C19orf47 chromosome 19 open reading frame 47 19 19 19 q13.2 37626510 37653832 - 45518810 45546133 - 40826967 40854434 - 16381901;15489336;14702039;12477932;11230166;11076863;19616115 126526 J3QKY6;J3QKZ5;J3QS16;J3QS80;J9JIE4;Q8N9M1 ABBA01040751;ABBA01040752;ABBA01040753;AC118344;AI394044;AK094207;AL834131;AMYH01009800;BC023623;BC027935;BI916290;BM459040;CH471126;CR936760;NM_001256440;NM_001256441;NR_046202 AAH23623;AAH27935;ACE86598;ACE87279;BAC04311;CAD38848;CAL37407;CAL37488;CAL38418;CAL38618;EAW56945;EAW56946;EAW56947;EAW56948;EAW56949;NP_001243369;NP_001243370;Q8N9M1 Hs.631557 1768544;2139416;5109565 D19S624E;RH48175;SHGC-63610 DKFZp686P05129;FLJ36888 hypothetical protein LOC126526;uncharacterized protein C19orf47 protein-coding ENSG00000160392 26723 08216 VALIDATED 1605904 C19orf49 chromosome 19 open reading frame 49 19 q13.2 47573956 47574759 + 12477932 90198 Q86XP5 AC011497;AF497566;AK026018;BC093649;BC111942;BF941059;CB122799;NM_178121 AAH93649;AAI11943;AAO85531;NP_835222;Q86XP5 Hs.558582 FLJ22365;MGC138147;SBP1 protein-coding 24901 18019 1603189 C19orf48 chromosome 19 open reading frame 48 19 19 19 q13.33 48351918 48358943 - 55992773 55999786 - 51300961 51307974 - 6480464 18698046;15489334;12477932;12452007;8889548;17207965;20686220 84798 M0QXL0;M0QZ14;M0QZC8;M0R1J5;M0R1Y9;M0R3D1;Q6RUI8 ABBA01068298;AC010325;AMYH01009945;AY491972;BC006151;BC037227;BC051842;BM802982;BX508552;CF141966;CF146381;CH471135;NM_199249;NM_199250 AAH06151;AAH37227;AAH51842;AAR36899;ADQ32837;EAW71905;EAW71906;EAW71907;EAW71908;EAW71909;NP_954857;NP_954858;Q6RUI8 Hs.256301 1734674;1852635 D19S659E;D19S681E MGC13170 multidrug resistance-related protein;uncharacterized protein C19orf48 protein-coding ENSG00000167747 29667 14437 VALIDATED 1602195 C19orf52 chromosome 19 open reading frame 52 19 19 19 p13.2 10934265 10935758 + 10900424 10901917 + 11039424 11040917 + 6480464 15489334;12477932;21163940;21139048;21890473;21906983 90580 K7ENF5;Q9BSF4 ABBA01029885;AC011442;AMYH01009480;BC005075;BC007244;BC011833;CH471106;NM_138358 AAH05075;AAH07244;AAH11833;EAW84160;NP_612367;Q9BSF4 Hs.164026 1713683;2162847 G09492;RH120724 hypothetical protein LOC90580;uncharacterized protein C19orf52 protein-coding ENSG00000142444 25152 14275 PREDICTED 1606305 C19orf53 chromosome 19 open reading frame 53 19 19 19 p13.2 13779045 13783371 + 13746257 13750587 + 13885257 13889587 + 6480464 16344560;15635413;15489334;12477932;11042152;10540346;21628590;20379614;16196087;21906983 28974 K7EIU1;K7EN09;K7ESE5;Q9UNZ5 ABBA01029722;AC008686;AF078852;AF086483;AI689503;AK311855;AMYH01009511;BC015465;CH471106;DA768829;NM_014047 AAD44484;AAH15465;ABM82495;ABM85687;BAG34796;EAW84372;NP_054766;Q9UNZ5 Hs.231616 1684556;1848706;1857670;2109405 A007D32;D19S1134;HSPC023_9568;RH91188 HSPC023;LYDG10 leydig cell tumor 10 kDa protein homolog protein-coding 24991 13687 VALIDATED 1603955 C19orf57 chromosome 19 open reading frame 57 19 19 19 p13.12 13886915 13910654 - 13854168 13877909 - 13993168 14016909 - 14702039;12477932;16189514;8228263;19060904;20098747;21832049 79173 K7EIN8;K7ELK3;K7EMZ7;K7EP60;K7ERY6;Q0VDD7 ABBA01029706;ABBA01029707;ABBA01029708;ABBA01029709;AC020916;AK097431;AMYH01009516;BC002891;BC012945;BC119718;BC119719;CH471106;L17327;NM_024323 AAB02340;AAH02891;AAH12945;AAI19720;BAC05049;EAW84376;EAW84377;EAW84378;EAW84379;NP_077299;Q0VDD7 Hs.143288 1673518;2174125 RH47778;RH69020 MGC11271;MGC149720 hypothetical protein LOC79173;pre-T/NK cell associated protein (3B3);pre-T/NK cell-associated protein 3B3;uncharacterized protein C19orf57 protein-coding ENSG00000132016 28153 14415 PREDICTED 1604490 C19orf54 chromosome 19 open reading frame 54 19 19 19 q13.2 38047186 38056250 - 45938601 45948248 - 41246761 41255828 - 16344560;15146197;12477932;21890473 284325 M0QXR4;M0R0A6;M0R2U9;M0R322;M0R368;Q5BKX5;Q6ZWG5 ABBA01040786;AC020945;AI250667;AK123126;AK298068;AK310021;AMYH01009807;BC020262;BC090894;BC131602;BI521309;CH471126;CN281611;DA073426;NM_198476 AAH90894;BAC85538;BAG60359;EAW56994;NP_940878;Q5BKX5 Hs.585105 1653051;1789038;2176103;5015619 D11S3114;G65653;RH67887;SHGC-31377 FLJ17063;FLJ41131;MGC103014 OTTHUMP00000196530;UPF0692 protein C19orf54;hypothetical protein LOC284325 protein-coding ENSG00000188493 24758 13449 VALIDATED 1626536 C19orf64 chromosome 19 open reading frame 64 19 p13.3 3542443 3544539 + 14702039 100113377 Q8N7K9 AK098244 BAC05269;Q8N7K9 Hs.266873 protein-coding 33549 1603570 C19orf55 chromosome 19 open reading frame 55 19 19 19 q13.12 32962521 32973554 + 40940884 40951917 + 36249044 36260077 + 6480464 16344560;14702039;12477932;19322201 148137 C9JFW7;F5GXU6;F8W7U6;H0YFI8;K7EP81;K7ER93;M0QY86;M0QZ53;Q2NL68 ABBA01018764;AC002398;AK055219;AK124144;AL833894;AMYH01009732;BC017947;BC110893;DB086668;NM_001039887 AAH17947;AAI10894;BAB70878;CAD38750;NP_001034976;Q2NL68 Hs.527982 5014051;5015619;5022200;5022588;5037552;5117897;5118444 D11S3114;D11S3316;D5S1597E;D8S2278;D8S2279;GDB:631813;L18426 DKFZp434C2231;FLJ30657;MGC131952 OTTHUMP00000237932;hypothetical protein LOC148137;uncharacterized protein C19orf55 protein-coding ENSG00000167595 25204 14079 VALIDATED 2299179 C19orf69 chromosome 19 open reading frame 69 19 19 19 q13.2 38748919 38750526 + 41949063 41950670 + 41949063 41950670 + 15057824 100170765 A6NGS2 ABBA01040810;AC011526;AMYH01009820;CB047448;NM_001130514 A6NGS2;NP_001123986 Hs.649452 hypothetical protein LOC100170765;uncharacterized protein C19orf69 protein-coding ENSG00000204978 34497 PREDICTED 2311616 C19orf67 chromosome 19 open reading frame 67 19 19 p13.12 14052952 14057439 - 14192444 14196634 - 15057824 646457 A6NJJ6 ABBA01029692;AC022098;AMYH01009519;DN831393;DR008137;DY655148;HY028687;HY212999;NM_001277378;XM_003403704;XM_003960759;XM_929382 A6NJJ6;NP_001264307;XP_003403752;XP_003960808;XP_934475 OTTHUMP00000240721;OTTHUMP00000240722;UPF0575 protein;UPF0575 protein C19orf67;UPF0575 protein C19orf67-like;chromosome 19 open reading frame 67;hypothetical protein LOC646457 protein-coding ENSG00000188032 34354 VALIDATED 2301120 C19orf71 chromosome 19 open reading frame 71 19 19 19 p13.3 3475965 3480838 + 3488848 3495991 + 3539155 3544028 + 15057824 100128569 A6NCJ1 ABBA01002828;ABBA01002829;AC005786;AC005787;AI138384;AMYH01009313;BX396051;CH471139;DY654838;NM_001135580 A6NCJ1;EAW69312;NP_001129052 Hs.664978 1851490 RH48811 Uncharacterized protein ENSP00000327950;hypothetical protein LOC100128569;uncharacterized protein C19orf71 protein-coding ENSG00000183397 34496 VALIDATED 1604975 C19orf59 chromosome 19 open reading frame 59 This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 7613125 7615901 + 7647943 7650719 + 7741943 7744719 + 6480464 15953541;15489334;12477932 199675 M0R0S5;Q8IX19 ABBA01010892;AC008763;AF461155;AF461156;AMYH01009412;BC035847;BC104796;BC104798;CA309750;CH471139;NM_174918 AAI04797;AAI04799;AAO15597;AAO15598;EAW69013;EAW69014;NP_777578;Q8IX19 Hs.709539 MCEMP1;MGC132456 mast cell-expressed membrane protein 1 APPROVED protein-coding 27291 14119 609565 REVIEWED 1344891 C19orf8 chromosome 19 open reading frame 8 140783 17974 1605988 C19orf60 chromosome 19 open reading frame 60 19 19 19 p13.11 18601706 18605350 + 18560495 18564147 + 18699495 18703147 + 6480464 14702039;16344560;12477932;16189514;17207965;19060904;19615732;19770013;21900206 55049 M0QYI9;M0R0T3;Q96EN9 ABBA01051272;AC003112;AK000857;AK054670;AK091925;AK094710;AMYH01009595;BC012078;BI836487;CH471106;DB254892;NM_001100418;NM_001100419 AAH12078;ADQ32374;BAA91400;BAC03773;EAW84719;EAW84720;EAW84721;EAW84722;EAW84723;NP_001093888;NP_001093889;Q96EN9 Hs.655317 1685129;1691028;5015404;5015619;5015861;5020946;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;L17705;L17971;RH68226;RH99007 FLJ20850;FLJ30108;FLJ34606;FLJ37391 hypothetical protein LOC55049;uncharacterized protein C19orf60 protein-coding ENSG00000006015 26098 07948 VALIDATED 1602629 C19orf68 chromosome 19 open reading frame 68 19 19 19 q13.33 45540366 45565746 + 53365761 53392689 + 48675210 48700516 + 6480464 12477932;19773279;20379614;21906983 374920 Q86XI8 ABBA01033008;ABBA01033009;AC011466;AMYH01009899;AMYH01009900;BC043386;CH471177;XM_001713770;XM_001713771;XM_003960765 AAH43386;EAW52318;Q86XI8;XP_001713822;XP_001713823;XP_003960814 Hs.664054 1678565 RH93332 MGC50339 hypothetical protein LOC374920;uncharacterized protein C19orf68 protein-coding 34495 14189 MODEL 5489342 C19orf81 chromosome 19 open reading frame 81 19 19 q13.33 55844514 55854966 + 51152702 51162567 + 342918 C9J6K1;H7BZS0 ABBA01068309;AC008743;AMYH01009942;BX281890;NM_001195076 C9J6K1;NP_001182005 Hs.531650 OTTHUMP00000209170;OTTHUMP00000209171;hypothetical protein LOC342918;putative uncharacterized protein C19orf81 protein-coding ENSG00000235034 40041 VALIDATED 1607022 C19orf80 chromosome 19 open reading frame 80 19 19 19 p13.2 11245140 11247464 + 11209817 11213619 + 11350295 11352619 + 6480464 12975309;12477932;15342556;23261442;23505323;20686565;22809513;22569073;21988832;23150577 55908 K7EIY2;K7EJY6;Q6UXH0 ABBA01029868;AC011472;AF271350;AMYH01009483;AY358356;BC113823;BF511595;BP316755;CH471106;NG_031953;NM_018687 AAF76204;AAI13824;AAI41564;AAI46553;AAQ88722;EAW84185;EAW84186;NP_061157;Q6UXH0 Hs.534467 ANGPTL8;PRO1185;PVPA599;RIFL;TD26 angiopoietin-like protein 8;betatrophin;hepatocellular carcinoma-associated gene TD26;hepatocellular carcinoma-associated protein TD26;lipasin APPROVED protein-coding ENSG00000130173 24933 14245 VALIDATED 1353943 C19orf9 chromosome 19 open reading frame 9 199775 BC021822 20172 1605065 C19orf66 chromosome 19 open reading frame 66 19 19 19 p13.2 10092297 10099418 + 10057806 10064928 + 10196806 10203928 + 6480464 14702039;12477932;21044950 55337 K7ELT7;K7EML3;K7EMS9;K7EP02;Q9NUL5 ABBA01029948;AC020931;AK001098;AK002148;AK096142;AK098062;AL137694;AMYH01009467;BC010847;BC026180;BC035817;CH471106;CQ859736;DB481173;NM_018381 AAH10847;AAH26180;AAH35817;BAA92109;BAC04710;CAH25918;EAW84066;EAW84067;EAW84068;EAW84069;EAW84070;NP_060851;Q9NUL5 Hs.655613 1650218;1777662;2218724;5015961;5022322;5022578;5037552 ANGPTL6__4301;D11S2560;D15S1477;D19S1125;D1S1423;D8S2279;RH11710 FLJ11286;FLJ40743 UPF0515 protein C19orf66;hypothetical protein LOC55337 protein-coding ENSG00000130813 25649 07747 VALIDATED 3129877 C1DP2 C1D nuclear receptor corepressor pseudogene 2 10 10 10 q22.3 75782316 75783178 - 81781664 81782188 - 81791366 81792228 - 642538 ABBA01003815;AL356095;AMYH01002881;CH471142;NG_021450 EAW80418 bA369J21.3 pseudo 31660 VALIDATED 1602703 C19orf73 chromosome 19 open reading frame 73 19 19 19 q13.33 46488874 46489617 - 54313466 54314209 - 49621654 49622397 - 6480464 14702039;12477932;17207965 55150 Q9NVV2 ABBA01032941;AC008687;AK001352;AMYH01009909;BC051004;BC069669;BC069693;BC069712;BC069750;CH471177;NM_018111 AAH51004;AAH69669;AAH69693;AAH69712;AAH69750;ADQ32878;BAA91643;EAW52456;NP_060581;Q9NVV2 Hs.458310 FLJ10490 putative uncharacterized protein C19orf73 protein-coding ENSG00000221916 25534 07676 VALIDATED 3362449 C1DP1 C1D nuclear receptor corepressor pseudogene 1 10 10 10 p11.22 32564384 32565578 - 32839491 32840824 - 32799556 32800747 - 11311939 554049 ABBA01033381;AL354750;AMYH01002223;NG_005140 1647519;1679107;1680974 G23952;RH40315;RH69539 bA195O1.1 pseudo 31465 INFERRED 3129884 C1DP3 C1D nuclear receptor corepressor pseudogene 3 10 10 10 q22.3 75775107 75775960 - 81774447 81778155 - 81784144 81784997 - 20379614 642521 ABBA01003815;AL356095;AMYH01002881;NG_021448 bA369J21.2 pseudo 31661 VALIDATED 7245574 C19orf82 chromosome 19 open reading frame 82 12477932;14702039 284385 K7EIQ3 ABBA01029969;AC008759;AK097685;AMYH01009461;BC143540;DB487189;NM_001242812 NP_001229741 Hs.651747 1339347;1768469;1851448 D19S403;SHGC-7127;WI-11783 uncharacterized protein LOC284385 protein-coding ENSG00000267106 27613 VALIDATED 1353224 C1HR C1AGOH temperature sensitivity complementing 709 1227 2816606 C1DP4 C1D nuclear receptor corepressor pseudogene 4 10 10 10 q22.3 75790968 75791825 - 81790318 81790779 - 81800021 81800878 - 727879 ABBA01003814;AL356095;AMYH01002881;NG_021449 pseudo 38028 VALIDATED 1601829 C19orf70 chromosome 19 open reading frame 70 19 19 19 p13.3 5615800 5618278 - 5629433 5631911 - 5678433 5680911 - 6480464 17353931;14702039;12477932;22939629;21890473;21906983 125988 K7EIR2;K7EKR0;Q5XKP0 AB167391;ABBA01056001;AC011499;AK091768;AMYH01009363;BC009557;BC042386;BC052640;BM563199;CH471139;FB342993;FB711116;NM_205767 AAH09557;AAH42386;BAE80091;CAR81497;CAS91513;EAW69159;EAW69160;NP_991330;Q5XKP0 Hs.356626 5037552;5113791 D8S2279;RH79810 P117;QIL1 QIL1 protein;protein QIL1 protein-coding ENSG00000174917 33702 15198 VALIDATED 3380006 C19orf77 chromosome 19 open reading frame 77 19 19 19 p13.3 3411216 3417351 - 3425405 3431534 - 3474405 3480540 - 6480464 12477932;16341674;8889548 284422 K7EKM7;O75264 ABBA01002825;AC005551;AF161441;AMYH01009313;AX970540;BC146979;BC146984;BM769757;BU733823;CB178479;NM_001136503 AAF29001;AAI46980;AAI46985;CAF15648;NP_001129975;O75264 Hs.130714 1697344 RH102169 HSPC323 transmembrane protein C19orf77;transmembrane protein HSPC323 protein-coding ENSG00000095932 37244 VALIDATED 1607075 C1D C1D nuclear receptor corepressor The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010] 2 2 p13-p12 68122840 68143634 - 68269332 68290159 - 6480464 9469821;17599775;17412707;15146197;12477932;12379155;11801738;11311939;10362552;9852280;9679063;9405624;16344560;19423540;20406964;20438785;20211142;20530579;21832049;18029348;21906983 10438 J3KPZ4;Q13901 ABBA01075475;ABBA01075476;ABBA01075477;ABBA01075478;AC079112;AI004680;AJ297543;AK290451;AMYH01010412;BC005235;BC009584;BC009589;BC016284;BG505686;BM354091;CH471053;CN342947;DA900336;NM_001190263;NM_001190265;NM_006333;NM_173177;X95592 AAH05235;AAH09584;AAH09589;AAH16284;AAX88887;ABZ92396;BAF83140;CAA64845;EAW99884;EAW99885;EAW99886;NP_001177192;NP_001177194;NP_006324;NP_775269;Q13901 Hs.602900;Hs.697447 1647519;1679107;1680974;2186932 G23952;RH40315;RH69396;RH69539 LRP1;MGC12261;MGC14659;SUN-CoR;SUNCOR;hC1D C1D DNA-binding protein;C1D nuclear receptor co-repressor;OTTHUMP00000159964;OTTHUMP00000201764;OTTHUMP00000202687;OTTHUMP00000202688;nuclear DNA-binding protein;nuclear nucleic acid-binding protein C1D;small unique nuclear receptor co-repressor;small unique nuclear receptor corepressor APPROVED protein-coding 29911 07382 606997 REVIEWED 1344219 C1GALT1C1 C1GALT1-specific chaperone 1 This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009] X X q24 119643559 119647969 - 119759529 119764005 - 628501;1580863;6480464;6907045;7240710 12361956 18840896;18695044;18537974;18339842;18321367;18061573;17228361;16251947;12975309;12477932;12464682;11042152;22332537;22416136;19778426;19923218;20144270;8889548;21262965;21496458;21963094;23424651;21906983;23035125 29071 Q96EU7 AA578739;AB084170;ABBA01036052;AC011890;AF088029;AF161552;AF177284;AJ238398;AK290111;AMYH01022918;AY159319;AY358642;BC011930;BC012502;BC050441;BG779539;BM971206;CH471107;NG_016219;NM_001011551;NM_152692 AAF29039;AAH11930;AAH50441;AAN78129;AAQ13670;AAQ89005;ADZ16066;BAC41493;BAF82800;CAC80277;EAX11873;NP_001011551;NP_689905;Q96EU7 Hs.643920 2128483;2218740 C1GALT2__4480;G31528 C1GALT2;C1Gal-T2;C38H2-L1;COSMC;HSPC067;MGC19947;MST143;TNPS C1GALT1-specific chaperone 1;C1Gal-T2;C38H2-like protein 1;OTTHUMP00000023952;OTTHUMP00000023953;beta 1,3-galactosyltransferase 2;core 1 beta1,3-galactosyltransferase 2;core 1 beta3-Gal-T2;core 1 beta3-galactosyltransferase-specific molecular chaperone APPROVED protein-coding ENSG00000171155 24338 06462 300611;300622 REVIEWED 1603542 C1orf100 chromosome 1 open reading frame 100 1 1 1 q44 217805882 217842427 + 242582560 242619016 + 244515937 244552393 + 16710414;15489334;12477932;22832964;22560479 200159 Q5SVJ3 ABBA01047199;ABBA01047200;AL645465;AMYH01001895;BC054479;BX099227;CH471148;HY055397;NM_001012970;NM_001276348;NM_001276349 EAW77100;EAW77101;NP_001012988;NP_001263277;NP_001263278;Q5SVJ3 Hs.442703 1699752 RH103482 RP11-518L10.1 OTTHUMP00000037987;OTTHUMP00000037988;hypothetical protein LOC200159;uncharacterized protein C1orf100 protein-coding ENSG00000173728 30435 13168 VALIDATED 732029 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010] 7 7 p21.3 7240414 7250506 + 7222246 7288251 + 632427;1580863;6480464;6907045 11677243 17228361;22988244;19357720;19229831;19073881;19010793;18985719;18840896;18061573;16344560;16251947;12690205;12477932;10580128;18695044;19524017;19556244;19923218;20379614;14702039;21496458;21906983;22416136;22589738;22574202;22131235;22534569;22544166;15146197 56913 C9JDX1;C9K0C8;Q9NS00 AA443459;AACC02000012;ABBA01056514;AC005532;AF155582;AI400132;AI471988;AJ132443;AJ243256;AJ278960;AK023557;AMYH01017056;BC003174;CB992707;CH236948;CH471073;CN360565;DA977378;DB106731;DB136152;JA738797;NG_027732;NM_020156 AAF81981;AAH03174;AAQ96887;CAC45046;CAC80435;CAC82373;CCF77051;EAL24308;EAW93588;EAW93589;EAW93590;NP_064541;Q9NS00 Hs.239666 1653802;1660449;1661354;1661726;1669729;1680042;1681708;1777878;2173703;2175312;7185116 D0S8242E;D7S1659;D7S537E;G09436;RH64979;RH78171;RH80632;SGC38000;SHGC-2627;WI-16903 C1GALT;T-synthase B3Gal-T8;OTTHUMP00000200760;beta 1,3-galactosyltransferase;beta-1,3-galactosyltransferase;core 1 O-glycan T-synthase;core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1;core 1 beta1,3-galactosyltransferase 1;core 1 beta3-Gal-T;core 1 beta3-Gal-T1;glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 APPROVED protein-coding ENSG00000106392 24337 16631 610555 REVIEWED 1603371 C1orf105 chromosome 1 open reading frame 105 1 1 1 q24.3 145499293 145547396 + 170656453 170704589 + 172389828 172437969 + 6480464 17081983;16710414;15489334;12477932;20379614;21832049 92346 E9PLC3;H0YCE4;O95561;Q5R3C7 ABBA01027919;AL035295;AMYH01001498;BC038410;CH471067;NM_139240;Z97195 AAH38410;CAA22895;EAW90924;NP_640333;O95561 Hs.517991 1655385;1692864;1692888;1693792;1774597;1854382;2108367;2123948;2168620 D1S1860E;G42299;G42311;PIGC_8542;RH12889;SHGC-33416;SHGC-57331;SHGC-58192;SHGC-58931 RP1-106H8.1 OTTHUMP00000032649;OTTHUMP00000230863;hypothetical protein LOC92346;uncharacterized protein C1orf105 protein-coding ENSG00000180999 29591 14291 VALIDATED 1604494 C1orf101 chromosome 1 open reading frame 101 1 1 1 q44 217914699 218093560 + 242691313 242870285 + 244624673 244803662 + 16710414;15489334;12477932;20379614 257044 B1AQM6;Q5SY80 ABBA01047195;ABBA01047196;ABBA01047197;ABBA01047198;AC099757;AK027205;AK302609;AK303059;AL591594;AMYH01001895;AMYH01001896;AMYH01001897;BC028392;BC032859;BX648685;CH471148;DB462258;NG_029082;NM_001130957;NM_001242340;NM_173807 AAH32859;ABM81932;ABW03376;BAG64176;BAH13761;EAW77109;NP_001124429;NP_001229269;NP_776168;Q5SY80 Hs.459534 1693112;1724385;1776718 AL010011;AL034284;RH122716 MGC33370;RP11-523K4.1 OTTHUMP00000037984;OTTHUMP00000037985;OTTHUMP00000037986;hypothetical protein LOC257044;uncharacterized protein C1orf101 protein-coding ENSG00000179397 28491 14561 VALIDATED 1601862 C1orf106 chromosome 1 open reading frame 106 1 1 1 q32.1 173984710 174008910 + 199127292 199151486 + 200860627 200884864 + 6480464 21102463;21833088;16344560;15489334;14702039;12477932;21297633;19915572;15342556;23128233 55765 C9JAT8;E9PK29;Q3KP66 ABBA01027539;ABBA01027540;ABBA01027541;AC099756;AK001583;AK001763;AK025066;AK303885;AK316510;AMYH01001638;AW467005;BC106877;BP357953;CH471067;DA721467;DC346620;NM_001142569;NM_018265 AAI06878;BAA91771;BAA91892;BAG64821;BAH14881;EAW91323;NP_001136041;NP_060735;Q3KP66 Hs.518997 1676686;1764635 RH65506;SHGC-148222 FLJ10901;MGC125608 OTTHUMP00000033937;OTTHUMP00000033938;hypothetical protein LOC55765;uncharacterized protein C1orf106 protein-coding ENSG00000163362 25599 07712 VALIDATED 1603514 C1orf111 chromosome 1 open reading frame 111 1 1 1 q23.3 135446582 135449710 - 160610431 160613275 - 162343515 162346644 - 6480464 16189514;12477932;17207965;21832049 284680 Q5T0L3 ABBA01047307;AL512785;AMYH01001463;AY248900;BC032957;CH471067;NM_182581 AAH32957;AAP20051;ADQ32851;EAW90701;NP_872387;Q5T0L3 Hs.97784 HSD20;RP11-565P22.3 OTTHUMP00000029530;hypothetical protein LOC284680;uncharacterized protein C1orf111 protein-coding ENSG00000171722 27648 14154 VALIDATED 1606402 C1orf110 chromosome 1 open reading frame 110 1 1 1 q23.3 135928424 135942942 - 161090711 161105229 - 162824087 162838605 - 16710414;15489334;14702039;12477932;20664687;19536175;21832049;23266556 339512 E9PMF4;Q5JSG0;Q86UF4 ABBA01047302;AK123573;AL392003;AMYH01001465;BC040018;CH471067;NM_178550 BAC85648;EAW90726;NP_848645;Q86UF4 Hs.407631 FLJ41579;MGC48998;RP11-331H2.2 OTTHUMP00000032331;coiled-coil domain-containing protein C1orf110;hypothetical protein LOC339512 protein-coding ENSG00000185860 28736 14661 VALIDATED 1603990 C1orf112 chromosome 1 open reading frame 112 1 1 1 q24.2 142874342 142932011 + 168031174 168088853 + 169764550 169822229 + 6480464 19064610;14702039;12477932;19536175;20379614;21832049;23039964;21139048;21890473 55732 B4E0A9;E7ETI8;Q9NSG2 ABBA01027945;ABBA01027946;AK001568;AK023532;AK096493;AK127098;AK294569;AK299369;AK303296;AK310638;AL021940;AL031297;AL354614;AMYH01001490;BC011012;BC011445;BC062689;BC091516;BC107168;BC107169;CH471067;NM_018186 AAH91516;AAI07169;AAI07170;ACE86830;ACE87516;BAA91761;BAB14600;BAG53304;BAG54436;BAG57763;BAG61359;BAG64371;CAB89727;EAW90863;EAW90864;EAW90865;EAW90866;NP_060656;Q9NSG2 Hs.443551 1699940;1847091 RH103578;SHGC-75871 FLJ10706;FLJ13470;MGC130018;MGC130019;RP1-97P20.1 OTTHUMP00000033966;OTTHUMP00000034000;hypothetical protein LOC55732;uncharacterized protein C1orf112 protein-coding 25565 07694 PREDICTED 1606277 C1orf109 chromosome 1 open reading frame 109 1 1 1 p34.3 36425252 36434231 - 37919829 37928779 - 38147242 38156192 - 6480464 15489334;14702039;12477932;17207965;21890473;21906983;22548824 54955 Q9NX04 ABBA01023270;ABBA01023271;ABBA01023272;AC104336;AK000515;AK092319;AK299377;AK316093;AMYH01000502;BC018109;BC063843;CH471059;NM_017850 AAH18109;AAH63843;ADQ31991;BAA91221;BAG61367;BAH14464;EAX07326;EAX07327;EAX07328;EAX07329;EAX07330;NP_060320;Q9NX04 Hs.272673 FLJ20508 OTTHUMP00000004518;hypothetical protein LOC54955;uncharacterized protein C1orf109 protein-coding ENSG00000116922 26039 07918 614799 PROVISIONAL 1604289 C1orf116 chromosome 1 open reading frame 116 1 1 1 q32.1 180443370 180457605 - 205258489 205272724 - 207191866 207206101 - 6480464 16344560;16189514;15525603;14702039;12477932;9389513;18029348;18729074 79098 Q9BPY1;Q9BW04 ABBA01048247;AC098935;AK093826;AK096741;AL832940;AMYH01001680;AY352640;BC000765;BC001943;BC002325;BC018959;BG150416;CH471100;DA859157;NM_001083924;NM_023938 AAH00765;AAH01943;AAR11484;BAC04233;CAH56284;EAW93511;NP_001077393;NP_076427;Q9BW04 Hs.32417 1665715;2117375;2176540 A007I27;RH16330;SHGC-34392 DKFZp666H2010;FLJ36507;MGC2742;MGC4309;SARG OTTHUMP00000034747;OTTHUMP00000228548;specifically androgen-regulated gene protein;specifically androgen-regulated protein protein-coding ENSG00000182795 28667 15294 611680 VALIDATED 5130803 C1orf134 chromosome 1 open reading frame 134 p36.13 6480464 574037 Q5TEV5 AL109627 CAI22564;Q5TEV5 chromosome 1 open reading frame 134 protein-coding 32021 7246865 C1orf137 chromosome 1 open reading frame 137 388667 Q5JT78 AA922397;AL356748;CH471122;NM_001013643;XR_039900 EAW56660;NP_001013665;Q5JT78 Hs.127851 putative uncharacterized protein C1orf137 protein-coding 32040 18385 VALIDATED 1606866 C1orf132 chromosome 1 open reading frame 132 1 q32.2 206057213 206109112 - 14702039 388732 H0Y479 AK123177;AL356275;XR_000522;XR_000619 CAI40193;Q5TGB9 Hs.671099 1338984;1722593;1759545;1791440;1791730;1795514;2118948;2118950;2128275;2178351;2178467 CD34_304;D1S2692;D1S3317;G60378;PMC110554P1;PMC122934P1;RH35959;RH69685;RH70214;SHGC-151219;SHGC-33582 FLJ35650;MCP protein-coding 32018 1605938 C1orf115 chromosome 1 open reading frame 115 1 1 1 q41 194082992 194091863 + 218930251 218939122 + 220863628 220872499 + 6480464 16710414;16344560;15489334;14702039;12477932;8889548;21832049 79762 Q9H7X2 ABBA01048073;AI188887;AK024208;AK056749;AK091937;AK125403;AL592406;AMYH01001743;BC036067;BU728891;CH471100;DA175175;NM_024709 AAH36067;BAB14851;BAG52445;EAW93296;EAW93297;NP_078985;Q9H7X2 Hs.519839 1847425;2147032;2181541 A004A32;HSC21A072;SHGC-17189 FLJ14146;RP11-322F10.4 OTTHUMP00000035468;hypothetical protein LOC79762;uncharacterized protein C1orf115 protein-coding ENSG00000162817 25873 08596 VALIDATED 1625840 C1orf143 chromosome 1 open reading frame 143 q41 11181995 440714 H7C473 CH471100 EAW93325 5022578 D1S1423 protein-coding 32045 1606463 C1orf122 chromosome 1 open reading frame 122 1 1 1 p34.3 36551297 36552950 + 38046556 38047713 + 38273473 38275126 + 6480464 16710414;15489334;14702039;12477932;19578796 127687 Q5VSH5;Q6ZSJ8 ABBA01023263;AK127381;AL929472;AMYH01000505;AY517499;BC016402;BC057819;BC102041;BC107856;BC127187;BC127188;CH471059;CV575592;CX788342;NM_001142726;NM_198446 AAH57819;AAI02042;AAI27188;AAI27189;AAS76640;BAC86950;EAX07315;NP_001136198;NP_940848;Q6ZSJ8 Hs.532749 5493453 UniSTS:486466 ALAESM;FLJ23476;FLJ45459 OTTHUMP00000004512;OTTHUMP00000232301;hypothetical protein LOC127687;uncharacterized protein C1orf122;uncharacterized protein LOC127687 protein-coding ENSG00000197982 24789 13508 VALIDATED 1606706 C1orf127 chromosome 1 open reading frame 127 1 1 1 p36.22 10117782 10154399 - 10929120 10946845 - 11006530 11042094 - 14702039;12477932;16344560;22693459 148345 B7ZLG7;G8JLG8;H0YBK5;H3BM07;K7EPZ7;Q8N9H9 ABBA01035619;AK094437;AK095152;AL358492;AMYH01000251;BC126349;BC143794;BC143795;BC143797;CA438298;CH471130;DA093849;DW009828;NM_001170754 AAI26350;AAI43795;AAI43796;AAI43798;BAC04355;EAW71666;EAW71667;NP_001164225;Q8N9H9 Hs.127026 1732820;5024543 D1S1267;D1S3690 FLJ37118;FLJ37833 OTTHUMP00000196215;hypothetical protein LOC148345;uncharacterized protein C1orf127 protein-coding ENSG00000175262 26730 08780 VALIDATED 1605786 C1orf140 uncharacterized LOC400804 1 1 1 q41 194722654 194729022 - 219569893 219576261 - 221503270 221509638 - 12477932 400804 Q5VVS0 ABBA01048067;AK128488;AL445470;AMYH01001744;BC140931;NR_024236 BAC87460;Q5VVS0 Hs.722626 2152528;5014055;5015961;5020948 AL009518;D15S1477;D1S3697;G35510 FLJ46636;MGC176608 APPROVED miscrna ENSG00000234754 17386 PREDICTED 1606070 C1orf141 chromosome 1 open reading frame 141 1 1 1 p31.3 65847829 65884157 - 67330447 67366808 - 67557859 67594220 - 12477932;22412388 400757 F2Z2X7;Q5JVX6;Q5JVX7 ABBA01074523;AL133320;AMYH01000690;BC047053;BC062728;BC090886;BG772061;CH471059;HC006824;NM_001013674;NM_001276351;NM_001276352;NR_075077 AAH47053;AAH90886;CBH19218;EAX06503;NP_001013696;NP_001263280;NP_001263281;Q5JVX7 Hs.666621 1644018;1673658 AL009579;AL009632 MGC48454 OTTHUMP00000011044;OTTHUMP00000011045;hypothetical protein LOC400757;uncharacterized protein C1orf141 protein-coding ENSG00000203963 32044 18418 VALIDATED 1605298 C1orf131 chromosome 1 open reading frame 131 1 1 1 q42.2 204624375 204641792 - 229426132 229443547 - 231359509 231376924 - 6480464 14702039;12975309;12477932;21832049 128061 Q5TBH9;Q5TBI2;Q8NDD1 ABBA01033034;AK055124;AK303359;AL137801;AL834274;AMYH01001819;AY358235;BC036800;BC053609;BC062353;CH471098;CX783674;NM_152379 AAH36800;AAH53609;AAH62353;AAQ88602;BAB70857;BAG64419;CAD38949;EAW69948;EAW69949;EAW69950;EAW69951;EAW69952;NP_689592;Q8NDD1 Hs.743464 1692092;1692996;1698802 AL033686;AL034224;RH102964 DKFZp547B1713 OTTHUMP00000036143;OTTHUMP00000036144;OTTHUMP00000036145;OTTHUMP00000036146;hypothetical protein LOC128061;uncharacterized protein C1orf131 protein-coding ENSG00000143633 25332 13204 VALIDATED 1601780 C1orf148 chromosome 1 open reading frame 148 1 q42.13 228351787 228353213 - 14702039 574432 B1ANH7 ABBA01005832;AI989571;AL359510;AMYH01001792;BX114038;CH471098;NR_103539;NR_103540;XR_159118;XR_159330;XR_171255 B1ANH7;EAW69861 Hs.568467 FLJ32878 miscrna ENSG00000203684 32062 VALIDATED 1603028 C1orf123 chromosome 1 open reading frame 123 1 1 1 p32.3 51967614 51974132 - 53452359 53458877 - 53679771 53686289 - 16710414;15489334;14702039;12477932;17207965;16169070;21900206;21139048;21890473;21906983;22505724 54987 B1ARP7;Q9NWV4 ABBA01074743;AK000587;AK092734;AK094371;AL606760;AMYH01000626;BC010908;CH471059;CR457246;NM_017887 AAH10908;ADQ33192;BAA91272;CAG33527;EAX06749;EAX06750;EAX06751;EAX06752;NP_060357;Q9NWV4 Hs.525391 2120086;2143308;2164721 D1S1890E;RH64517;SHGC-17418 FLJ20580;RP5-1024G6.3 OTTHUMP00000010492;OTTHUMP00000035907;UPF0587 protein C1orf123;hypothetical protein LOC54987 protein-coding ENSG00000162384 26059 07929 PREDICTED 1603476 C1orf146 chromosome 1 open reading frame 146 1 1 1 p22.1 90929995 90957788 + 92456161 92483955 + 92683573 92711367 + 15496913;12477932 388649 Q5VVC0 AA861282;ABBA01045550;AL451010;AMYH01000796;BC130499;BC171742;BQ435566;BQ435801;BU567193;BU852979;CH471097;NM_001012425 AAI30500;ADR82861;EAW73099;NP_001012425;Q5VVC0 Hs.558823 1663535 AL009497 RP11-163M2.4 OTTHUMP00000011941;OTTHUMP00000011942;hypothetical protein LOC388649;uncharacterized protein C1orf146 protein-coding ENSG00000203910 24032 17988 VALIDATED 1604211 C1orf168 chromosome 1 open reading frame 168 1 1 1 p32.2 55469351 55569881 - 56957066 57057632 - 57184477 57285369 - 6480464 16344560;14702039;8889548;22843503;23251661 199920 Q5VWT5 ABBA01074677;ABBA01074678;AK093468;AK125198;AK310842;AL035705;AL360295;AMYH01000645;BU686304;BX648439;DA523424;DB193989;NM_001004303 ACE86516;ACE87195;BAC86080;CAH56148;NP_001004303;Q5VWT5 Hs.437655 1708410;1712030;2147251;2161685 AL009563;RH118712;SHGC-58246;SHGC-83491 FLJ43208;RP4-758N20.2 OTTHUMP00000009991;hypothetical protein LOC199920;uncharacterized protein C1orf168 protein-coding ENSG00000187889 27295 14120 VALIDATED 6899621 C1orf145 chromosome 1 open reading frame 145 1 q42.13 228391207 228401365 - 10737800;12477932;14702039;15489334;16710414 574407 H0YE71;Q96MR7 ABBA01005833;AK056556;AL359510;AMYH01001792;AMYH01001793;BC027909;CH471098;NR_073154;NR_073155 BAB71215;EAW69864;EAW69865;Q96MR7 Hs.650039 miscrna ENSG00000162913 32047 VALIDATED 1604535 C1orf162 chromosome 1 open reading frame 162 1 1 1 p13.2 110263526 110268056 + 111818127 111822657 + 112016604 112021134 + 6480464 14702039;12477932 128346 Q8NEQ5 ABBA01068397;AK123160;AL390195;AMYH01000946;BC017973;CH471122;NM_174896 AAH17973;ABM82902;ABM86093;EAW56497;EAW56498;NP_777556;Q8NEQ5 Hs.288010 1682387 RH93699 MGC24133 OTTHUMP00000013474;OTTHUMP00000013475;transmembrane protein C1orf162 protein-coding ENSG00000143110 28344 14495 PROVISIONAL 1604177 C1orf167 chromosome 1 open reading frame 167 1 1 1 p36.22 10940298 10952024 + 11754772 11773198 + 11822284 11835554 + 12477932;12370778;19913121;20628086;19729601;20416077 284498 H0Y401;H0Y5F2;H0Y5L4;H7BXQ2;Q5SNV9 ABBA01003059;AF398935;AL833920;AL833926;AL834308;AL953897;AMYH01000258;BC031692;BC128091;BC128092;XM_003118845;XM_003119773;XM_003960099 AAH31692;AAI28092;AAI28093;CAD38776;CAD38782;CAD38978;Q5SNV9;XP_003118893;XP_003119821;XP_003960148 Hs.585415;Hs.730573 5022200 L18426 DKFZp434E1410;DKFZp434F1313;RP11-56N19.2 OTTHUMP00000002264;OTTHUMP00000002265;OTTHUMP00000002266;hypothetical protein LOC284498;uncharacterized protein C1orf167 protein-coding 25262 MODEL 1606208 C1orf170 chromosome 1 open reading frame 170 1 1 1 p36.33 1672416 1681155 + 900442 907330 - 910579 917473 - 6480464 12477932;8681137 84808 Q5SV97 ABBA01016005;ABBA01016006;AK123855;AK312221;AL645608;AMYH01000104;BC006300;F22110;NR_027693 AAH06300;BAC85711;BAG35154;Q5SV97 Hs.271462 FLJ92510;MGC13275;RP11-54O7.8 miscrna ENSG00000187642 28208 VALIDATED 1602191 C1orf158 chromosome 1 open reading frame 158 1 1 1 p36.21 11918687 11933640 + 12728750 12743689 + 12806163 12821102 + 16710414;15489334;12477932;17207965 93190 Q5VUY5;Q8N1D5 ABBA01003098;AK026705;AK298760;AL513016;AMYH01000261;BC029894;BX647383;CH471130;NM_152290 AAH29894;ADQ31595;BAG60902;EAW71746;NP_689503;Q8N1D5 Hs.98095 1684924;1692930;5015861;5022578;7185938 AL034179;D10S16;D1S1423;RH98526 DKFZp686C0236;MGC35194;RP11-474O21.4 OTTHUMP00000001870;OTTHUMP00000001871;hypothetical protein LOC93190;uncharacterized protein C1orf158 protein-coding 28567 14604 VALIDATED 1601806 C1orf185 chromosome 1 open reading frame 185 1 1 1 p32.3 49854427 49900283 + 51340494 51386342 + 51567906 51613754 + 16710414;14702039;21076409 284546 Q5T7R7;R4GMU4 ABBA01074813;ABBA01074814;AK130995;AL162430;AMYH01000610;NM_001136508 NP_001129980;Q5T7R7 Hs.176177 FLJ27485 OTTHUMP00000009757;hypothetical protein LOC284546;uncharacterized protein C1orf185 protein-coding ENSG00000204006 28096 PREDICTED 1606269 C1orf159 chromosome 1 open reading frame 159 1 1 1 p36.33 1559584 1569871 + 1007068 1041332 - 1017198 1051736 - 16710414;16344560;15489334;14702039;12975309;12477932;8889548 54991 B2REC4;B2REC5;J3KSJ6;J3KT48;J3QKM1;J3QRL0;J3QSF0;Q5T2W7;Q5T2W9;Q96HA4 ABBA01016014;ABBA01016015;ABBA01016016;ABBA01016017;AI270164;AK000591;AK024796;AK054793;AK057368;AK124054;AK128271;AK128434;AK301998;AL390719;AMYH01000111;AMYH01000112;AMYH01000113;AY358490;BC008788;BC028173;BE280321;BM974309;BU624412;BX394177;CH471183;DA066689;DB026989;NM_017891 AAH08788;AAQ88854;ADZ15797;BAA91276;BAC87438;BAG51908;BAG63402;EAW56288;EAW56289;EAW56290;EAW56291;NP_060361;Q96HA4 Hs.235095 5022651 D11S2921 FLJ20584;FLJ21143;FLJ36119;RP11-465B22.4 OTTHUMP00000000807;OTTHUMP00000000808;OTTHUMP00000000809;OTTHUMP00000000896;OTTHUMP00000000897;OTTHUMP00000205753;hypothetical protein LOC54991;uncharacterized protein C1orf159 protein-coding ENSG00000131591 26062 07930 VALIDATED 1602654 C1orf172 chromosome 1 open reading frame 172 1 1 1 p36.11 25673140 25683994 - 27148648 27159484 - 27276047 27286901 - 6480464 14702039;12477932;16344560 126695 Q68D65;Q8NAX2 ABBA01034938;ABBA01034939;ABBA01034940;AI216202;AK091952;AL356390;AMYH01000415;BC033143;CH471059;CR749558;DA041083;NM_152365 AAH33143;BAC03775;CAH18355;EAX07779;NP_689578;Q8NAX2 Hs.188881 1732920 D1S1326 FLJ34633;RP11-344H11.3 OTTHUMP00000004472;hypothetical protein LOC126695;uncharacterized protein C1orf172 protein-coding ENSG00000175707 26624 08754 VALIDATED 7246238 C1orf191 chromosome 1 open reading frame 191 6480464 16710414 619518 Q7Z2R9 ABBA01074726;AF176918;AL161644;AMYH01000632;NR_103541;XR_110512;XR_112074;XR_171167 AAQ13662;Q7Z2R9 Hs.591438 MST128;MSTP128 miscrna ENSG00000198711 32328 VALIDATED 1603912 C1orf173 chromosome 1 open reading frame 173 1 1 1 p31.1 73279099 73384675 - 74806383 74912010 - 75033795 75139422 - 12477932;20379614 127254 Q5RHP9;R4GMY5 ABBA01074425;AC096950;AI028350;AK127470;AL833250;AL834414;AMYH01000712;BC035114;BC044605;BC073916;BI832067;BX470253;CH471059;CR749349;NM_001002912;R61866 AAH73916;BAC86994;CAD39076;CAH18202;EAX06413;EAX06414;NP_001002912;Q5RHP9 Hs.531182 1336702;1677768;1693078;1722981;1727011;1756759;1781816;2151863 AL009754;AL034267;D1S2761;G60590;G62903;RH92319;SHGC-143889;SHGC-156141 DKFZp547I048;DKFZp761G1720;DKFZp781L0319;MGC90412;RP11-653A5.1 OTTHUMP00000011196;hypothetical protein LOC127254;uncharacterized protein C1orf173 protein-coding ENSG00000178965 25346 16816 VALIDATED 1626188 C1orf193 chromosome 1 open reading frame 193 100101443 AL513523;NM_001099689 CAH71419;NP_001093159 FLJ21919 protein-coding 32329 1603553 C1orf177 chromosome 1 open reading frame 177 1 1 1 p32.3 53559332 53595605 + 55044324 55080513 + 55271736 55307937 + 6480464 14702039;12477932;20379614 163747 Q3ZCV2 ABBA01074707;AC096536;AK097520;AMYH01000640;AMYH01000641;BC039109;BC064142;BU633253;CH471059;NM_001110533;NM_152607 AAH39109;AAH64142;BAC05087;EAX06665;EAX06666;NP_001104003;NP_689820;Q3ZCV2 Hs.376018 1781832 SHGC-172962 FLJ40201 OTTHUMP00000011682;OTTHUMP00000011683;hypothetical protein LOC163747;uncharacterized protein C1orf177 protein-coding ENSG00000162398 26854 08807 VALIDATED 1603248 C1orf174 chromosome 1 open reading frame 174 1 1 1 p36.32 3059840 3070495 - 3795557 3806709 - 3805697 3816857 - 6480464 18029348;16169070;14702039;12477932;21832049;19322201;21044950 339448 Q8IYL3 ABBA01073650;AK125092;AK289493;AL691523;AMYH01000192;BC035643;BC047611;BC067302;BX005110;CH471130;NM_207356 AAH35643;AAH67302;BAF82182;EAW71492;EAW71493;NP_997239;Q8IYL3 Hs.103939 1688468;1766319;2187333;5015861;5022322;7185938 D10S16;D11S2560;RH93299;SHGC-149666;SHGC-30623 RP13-531C17.2 OTTHUMP00000003854;UPF0688 protein C1orf174;hypothetical protein LOC339448 protein-coding ENSG00000198912 27915 17353 VALIDATED 1604188 C1orf192 chromosome 1 open reading frame 192 1 1 1 q23.3 134401651 134404794 - 159601145 159604288 - 161334521 161337664 - 6480464 17213182;8889548;22275255 257177 Q5VTH2 ABBA01016590;AL592295;AMYH01001457;BU688150;CH471121;DT215043;NM_001013625 EAW52596;NP_001013647;Q5VTH2 Hs.534593 1701676;2160051;2181924;5093192 A009J11;G32575;RH104510;RH68877 OTTHUMP00000032373;UPF0740 protein C1orf192;hypothetical protein LOC257177 protein-coding ENSG00000188931 32325 13257 VALIDATED 1604852 C1orf196 chromosome 1 open reading frame 196 p36.21 780789 B1AJZ1 AL031273;Z99291 B1AJZ1;CAI20112;CAI22533 chromosome 1 open reading frame 196 protein-coding 32336 1604859 C1orf197 chromosome 1 open reading frame 197 1 q42.12 223667869 223668585 + 653311 AC092811;XM_928433 XP_933526 FLJ43126;PRO0650 protein-coding 32338 1348164 C1orf20 chromosome 1 open reading frame 20 q25 11318611 116492 AF288396 Hs.693174 protein-coding 16786 1606860 C1orf186 chromosome 1 open reading frame 186 1 1 1 q32.1 179204080 179208813 + 204405495 204455270 - 206238872 206288647 - 6480464 16710414;15489334;14702039;12477932 440712 Q6ZWK4 ABBA01001845;ABBA01001846;AC244035;AK122631;AMYH01001676;AX118901;BC071785;BX104285;BX571818;CH471067;NM_001007544 AAH71785;BAC85497;CAC38524;EAW91594;NP_001007545;Q6ZWK4 Hs.662248 1691196 RH91969 FLJ16052 OTTHUMP00000034347;hypothetical protein LOC440712;uncharacterized protein C1orf186 protein-coding ENSG00000196533 25341 17400 VALIDATED 7246539 C1orf195 chromosome 1 open reading frame 195 15489334;16710414 727684 Q5TG92 AL035405;AW269992;BX095243;NM_001278501;NM_001278502 NP_001265430;NP_001265431;Q5TG92 Hs.735267 putative uncharacterized protein C1orf195 protein-coding 32332 VALIDATED 1641969 C1orf180 chromosome 1 open reading frame 180 1 1 1 p22.3 83337809 83344598 - 84866501 84873291 - 85093913 85100703 - 6480464 14702039;12477932 439927 Q8NAE3 ABBA01045652;AC114482;AK092806;AMYH01000752;BC137361;BC137362;BC144607;BC171792;CH471097;NR_027379 BAC03979;EAW73229;Q8NAE3 Hs.407054 FLJ35487;MGC168982;MGC168983 miscrna ENSG00000180869 26647 08182 VALIDATED 1604538 C1orf194 chromosome 1 open reading frame 194 1 1 1 p13.3 107917953 107925883 - 109450096 109458002 - 109648573 109656479 - 12477932;11329013 127003 B1ALJ5;E9PLX1;E9PRR4;Q5T5A4 ABBA01068371;ABBA01068372;AL138933;AL356488;AMYH01000929;BC127905;BG196327;BG772797;NM_001122961 NP_001116433;Q5T5A4 Hs.446962 OTTHUMP00000013446;OTTHUMP00000013448;hypothetical protein LOC127003;uncharacterized protein C1orf194 protein-coding ENSG00000179902 32331 VALIDATED 1606869 C1orf189 chromosome 1 open reading frame 189 1 1 1 q21.3 127243566 127250527 - 152438472 152445433 - 154171848 154178809 - 12477932;16710414;15489334 388701 Q5VU69 ABBA01049475;AI052706;AL590431;AMYH01001413;AMYH01001414;BC127710;BC130509;CH471121;HY025946;NM_001010979 AAI27711;AAI30510;ADR83452;EAW53228;NP_001010979;Q5VU69 Hs.104967 1735654;1848456;1850070;2138400;2147428;2171874 A002G29;D1S1842E;D1S1900E;D9S2048;RH11751;RH12547 OTTHUMP00000034203;hypothetical protein LOC388701;uncharacterized protein C1orf189 protein-coding ENSG00000163263 32305 17373 VALIDATED 1601704 C1orf204 chromosome 1 open reading frame 204 1 1 q23.2 132872691 132893564 - 159804264 159825137 - 6480464 14702039;15489334;15815621;23472185 284677 Q5VU13 ABBA01016617;ABBA01016618;AK096506;AL080176;AL590560;AMYH01001448;NM_001134233 CAH71105;NP_001127705 Hs.647718 1798158;2178946 SLAMF8_2285;WI-11725 FLJ20442;FLJ39187 OTTHUMP00000033459;hypothetical protein LOC284677;uncharacterized protein LOC284677 protein-coding ENSG00000188004 27647 PREDICTED 1626542 C1orf200 chromosome 1 open reading frame 200 1 1 1 p36.22 8823694 8825670 - 9635255 9637231 - 9712668 9714644 - 14702039;12477932 644997 Q5SR53 ABBA01035565;AK097325;AL691449;AMYH01000241;BC016063;BC144613;CH471130;NG_023434;NR_027045 BAC04998;EAW71628;Q5SR53 Hs.568595 5016851 RH80031 miscrna ENSG00000179840 32346 VALIDATED 1605280 C1orf213 chromosome 1 open reading frame 213 1 1 1 p36.12 22025118 22027986 + 23568051 23570866 + 23695464 23698332 + 12477932 148898 E5RFN3;E5RHY3;F2Z2N4;H0YBW9;Q8NC38 ABBA01059870;AK074989;AL109936;AMYH01000359;BC007899;BC028411;BC054115;BC068594;BQ072309;BX098506;CH471134;CQ782969;NR_033690;NR_033691 AAH28411;AAH54115;AAH68594;BAC11338;CAF86197;EAW95046;Q8NC38 Hs.61884 1680607;5016741 RH76104;RH80588 FLJ90508 miscrna ENSG00000249087 25122 14083 VALIDATED 1603568 C1orf210 chromosome 1 open reading frame 210 1 1 1 p34.2 42029660 42033395 - 43520141 43523837 - 43747554 43751288 - 6480464 16341674;15489334;12477932;17207965 149466 Q8IVY1 ABBA01050960;AC093420;AL696898;AMYH01000557;BC041633;BM273035;BM784450;CH471059;NM_001164829;NM_182517 AAH41633;ADQ32137;EAX07108;EAX07109;NP_001158301;NP_872323;Q8IVY1 Hs.158963 MGC52423 OTTHUMP00000224940;OTTHUMP00000224941;putative uncharacterized protein C1orf210 protein-coding ENSG00000253313 28755 14677 VALIDATED 1602995 C1orf198 chromosome 1 open reading frame 198 1 1 1 q42.2 204238818 204271280 - 229039489 229070900 - 230972865 231005335 - 6480464 16710414;15489334;14702039;12665801;12477932;16344560;19322201;21139048;21906983 84886 E5RFY9;E5RI90;Q9H425 ABBA01033029;ABBA01033030;ABBA01033031;AK027431;AK096166;AK131306;AK292433;AL118511;AL713769;AL833809;AMYH01001814;AMYH01001815;BC004870;BC066649;CH471098;DA333501;DA754292;NM_001136494;NM_001136495;NM_032800 AAH66649;BAB55105;BAD18472;BAF85122;BAG53223;EAW69923;EAW69924;EAW69925;EAW69926;EAW69927;NP_001129966;NP_001129967;NP_116189;Q9H425 Hs.520494 2149791;2162327;5110525 A006T20;RH45528;SHGC-76517 DKFZp667D152;FLJ14525;FLJ16283;FLJ38847;MGC10710 OTTHUMP00000035916;OTTHUMP00000228226;OTTHUMP00000228228;hypothetical protein LOC84886;uncharacterized protein C1orf198 protein-coding ENSG00000119280 25900 13359 VALIDATED 1601758 C1orf218 chromosome 1 open reading frame 218 1 q31.3 195745380 195788865 - 14702039;12477932 54530 AK000061;AK024832;AK091207;AL139136;AL831839;BC074735;NM_019049 AAH74735;BAA90918;BAB15024;CAD38548;CAI15312;NP_061922;Q5TAI8;Q6B0I8;Q9H774;Q9NXU2 Hs.657779 DKFZp547O0715;FLJ20054 protein-coding 25946 08611 1602948 C1orf220 chromosome 1 open reading frame 220 1 1 1 q25.2 151621094 151627187 + 176778554 176784647 + 178511931 178518024 + 14702039;12477932 400798 Q5T0J3;Q5T0J4 ABBA01027834;ABBA01027835;AK092849;AL513013;AMYH01001524;BC136727;CH471067;NR_033186 AAI36728;BAC03990;EAW91026;Q5T0J3 Hs.668085 DKFZp564J047;FLJ35530;FLJ40199 miscrna ENSG00000184909;ENSG00000213057 33805 13417 VALIDATED 1602984 C1orf216 chromosome 1 open reading frame 216 1 1 1 p34.3 34453940 34459253 - 35952064 35957377 - 36179477 36184790 - 6480464 16189514;14702039;12477932 127703 B4DG08;Q8TAB5 ABBA01023335;AK096303;AK096466;AK294352;AL354864;AMYH01000491;BC026909;CH471059;NM_152374 AAH26909;BAC04755;BAC04799;BAG57619;EAX07403;EAX07404;NP_689587;Q8TAB5 Hs.112023 1703180;2124526;2169455;2169457 A002D03;G19944;SGC31887;WI-19902 FLJ38984 OTTHUMP00000221719;UPF0500 protein C1orf216;hypothetical protein LOC127703 protein-coding ENSG00000142686 26800 08798 PROVISIONAL 1319257 C1orf21 chromosome 1 open reading frame 21 1 1 1 q25 157467104 157709101 + 182622773 182864778 + 184356150 184598155 + 6480464 16710414;16341674;15489334;14702039;12477932;11318611;9110174;8619474;17207965 81563 B1AKK6;Q9H246 ABBA01027734;ABBA01027735;ABBA01027736;AF035282;AF312864;AK056487;AK312062;AL078645;AL358152;AL445228;AL699720;AMYH01001556;AMYH01001557;AY258286;BC028567;BF575955;BG823539;BM793961;BQ431539;BX648959;CD000222;CH471067;CR627007;NM_030806 AAG45338;AAH28567;AAP82231;ADQ32265;BAB71196;BAG34998;EAW91176;EAW91177;NP_110433;Q9H246 Hs.497159;Hs.743658 1644081;1647344;1650184;1659216;1667561;1671001;1684110;1692398;1692446;1693008;1706418;2160755;2184399;5092904;5093546 A009C04;A009Q28;AL009811;AL033847;AL033873;AL034231;D1S1846E;D1S1866E;D1S2249;G32403;G32782;RH26692;RH77882;SHGC-76052;SHGC-80787 PIG13 OTTHUMP00000033397;cell proliferation-inducing gene 13 protein;chromosome 1 open reading frame 21;proliferation-inducing protein 13;uncharacterized protein C1orf21 protein-coding ENSG00000116667 15494 12721 VALIDATED 1603331 C1orf229 chromosome 1 open reading frame 229 1 1 1 q44 220569764 220572019 - 245340085 245342342 - 247273462 247275719 - 388759 Q6ZS94 ABBA01031779;ABBA01031780;AK127619;AL390728;AMYH01001909;NM_207401 AAI56416;AAI72473;BAC87060;NP_997284;Q6ZS94 Hs.456511 5014051;5022200;5037552 D8S2278;D8S2279;L18426 FLJ45717 OTTHUMP00000228876;putative uncharacterized protein C1orf229 protein-coding ENSG00000221953 33759 13511 PREDICTED 1342892 C1orf30 chromosome 1 open reading frame 30 140784 17977 1606656 C1orf222 chromosome 1 open reading frame 222 1 1 p36.33 1843256 1849228 - 1853390 1859368 - 12477932 339457 F8W7V6;H7C4E1;H7C4J0;H7C5P2;Q5T2D8;Q69YW0 ABBA01016077;ABBA01016078;AL109917;AL137547;AMYH01000160;AMYH01000161;BC114926;XM_003119800;XM_003403417;XM_003960095 AAI14927;CAH10703;Q69YW0;XP_003119848;XP_003403465;XP_003960144 Hs.259619 MGC133181 chromosome 1 open reading frame 222;hypothetical protein LOC339457;uncharacterized protein C1orf222 protein-coding 27917 14167 MODEL 1606701 C1orf227 chromosome 1 open reading frame 227 1 1 1 q32.3 186229475 186246986 - 211070106 211087614 - 213003483 213020991 - 12477932;20379614 149643 Q537H7 ABBA01048163;ABBA01048164;ABBA01048165;AC104333;AY640234;BC035742;CH471100;NM_001024601 AAH35742;AAU14247;EAW93375;NP_001019772;Q537H7 Hs.153274 OTTHUMP00000212308;UPF0732 protein C1orf227;hypothetical protein LOC149643 protein-coding ENSG00000185523 33709 18558 PREDICTED 1349502 C1orf5 chromosome 1 open reading frame 5 10759 1236 2301261 C1orf226 chromosome 1 open reading frame 226 1 1 1 q23.3 135451762 135459674 + 160618144 160623232 + 162348696 162356608 + 6480464 14702039;12477932;11181995 400793 A1L170;F8W6W0 ABBA01047306;ABBA01047307;AI480219;AK023199;AK125122;AK293907;AL512785;AMYH01001463;BC127743;BC127744;CH471067;NM_001085375;NM_001135240 A1L170;AAI27744;AAI27745;BAG57292;EAW90702;NP_001078844;NP_001128712 Hs.447011 1710146;1779680;1779684;2126471;2169349 RH78970;SHGC-153658;SHGC-153662;SHGC-37330;SHGC-81561 FLJ13137;FLJ43132;FLJ55152 OTTHUMP00000228958;OTTHUMP00000228959;hypothetical protein LOC400793;uncharacterized protein C1orf226 protein-coding ENSG00000239887 34351 VALIDATED 1606401 C1orf228 chromosome 1 open reading frame 228 1 1 1 p34.1 43423283 43474156 + 44913014 44964051 + 45140394 45191263 + 12477932 339541 C9J477;C9J579;C9JA22;C9JCY2;F8WDG2;H7C5J1;Q6PIY5 ABBA01050915;ABBA01050916;ABBA01050917;ABBA01050918;AL122004;AMYH01000567;AY254217;BC026115;BX112141;CH471059;NM_001145636 AAH26115;AAP80384;EAX07026;EAX07027;NP_001139108;Q6PIY5 Hs.173679 1676994;1692428;2183364 AL033863;RH98387;SHGC-74737 MGC33556;NCRNA00082;p40 OTTHUMP00000212437;hypothetical protein LOC339541;uncharacterized protein C1orf228 protein-coding ENSG00000198520 34345 17525 VALIDATED 6480141 C1orf233 chromosome 1 open reading frame 233 1 p36.33 1533388 1535476 - 12477932;8889548 643988 F2Z333 AB188495;ABBA01016056;ABBA01016057;ABBA01016058;ABBA01016059;ABBA01016060;ABBA01016061;ABBA01016062;AL691432;AMYH01000142;BC013276;BC070393;BU733865;NM_001242659 F2Z333;NP_001229588 Hs.528816 fibronectin type-III domain-containing transmembrane protein C1orf233;uncharacterized protein LOC643988 protein-coding ENSG00000228594 42951 VALIDATED 1346906 C1orf27 chromosome 1 open reading frame 27 1 1 1 q25 159455598 159501227 + 184611624 184657126 + 186344890 186390503 + 6480464 18187418;15718105;12868032;12477932;11318611;16344560;21139048;21706016 54953 Q5SWX8 ABBA01027704;AF214011;AK000171;AK000512;AK026086;AK298107;AL596220;AMYH01001562;AY854248;BC003397;CH471067;DB116803;DQ323046;DQ529299;NM_001164245;NM_001164246;NM_017847 AAH03397;AAL56643;AAW30011;ABC50092;ABF71985;BAA91218;BAB15356;BAG60392;EAW91207;EAW91208;EAW91209;NP_001157717;NP_001157718;NP_060317;Q5SWX8 Hs.371210 1337574;1768340;1772829;1848387;2126689;2130548;2150456;2187072;2219226;2220362 D1S2138;OCLM__6101;RH17859;RH46918;RH67877;SHGC-34113;SHGC-76036;UniSTS:480712;UniSTS:495134;WI-22547 FLJ20505;ODR4;TTG1;odr-4 LAG1-interacting protein;OTTHUMP00000033583;hODR-4;odorant response abnormal 4;protein odr-4 homolog;transactivated by recombinant transforming growth factor beta;transactivated by transforming growth factor beta protein 1 protein-coding ENSG00000157181 24299 12723 609335 VALIDATED 1347816 C1orf51 chromosome 1 open reading frame 51 1 1 1 q21.2 123370960 123375233 + 148521853 148526125 + 150255229 150259501 + 737633;6480464 12477932 16710414;15489334;14702039;17207965;21832049 148523 Q5TB12;Q5TB13;Q5TB14;Q8N365 ABBA01049331;AC242988;AK056960;AK098755;AK315397;AL138795;AMYH01001373;BC017397;BC027999;BC047238;CH471121;NM_144697 AAH17397;AAH27999;AAH47238;ACT64534;ACT64535;ADQ31740;BAB71326;BAC05404;BAG37790;CAI22816;CAI22817;CAI22818;CAI22819;EAW53560;EAW53561;EAW53562;EAW53563;EAW53564;NP_653298;Q8N365 Hs.54680 1687297;2186238;5022578;5037552 D1S1423;D8S2279;RH103224;SHGC-54240 FLJ25889 OTTHUMP00000014535;OTTHUMP00000014536;OTTHUMP00000014537;OTTHUMP00000014538;OTTHUMP00000014539;hypothetical protein LOC148523;uncharacterized protein C1orf51 protein-coding ENSG00000159208 25200 14081 PREDICTED 1350429 C1orf50 chromosome 1 open reading frame 50 1 1 1 p34.2 41514848 41523350 + 43005527 43013998 + 43232916 43241413 + 737633;6480464 12477932 16344560;15489334;15146197;8889548;21139048 79078 H0YFI9;H7C135;H7C461;Q9BV19;R4GMT4 AA741374;ABBA01050974;AC098484;AMYH01000554;BC001508;BC001711;BE464824;BM702424;CH471059;CN256666;DA684965;NM_024097;NR_040733 AAH01508;AAH01711;ADZ15681;EAX07138;EAX07139;EAX07140;EAX07141;NP_077002;Q9BV19 Hs.148845 1678937;1732888;1773511;2169331 D1S1307;RH92982;SHGC-2670;SHGC-74725 MGC955 OTTHUMP00000008833;hypothetical protein LOC79078;uncharacterized protein C1orf50 protein-coding ENSG00000164008 28795 14714 VALIDATED 1346419 C1orf52 chromosome 1 open reading frame 52 1 1 1 p22.3 83960049 83969784 - 85490244 85497913 - 85715636 85725355 - 737633;6480464 12477932 17081983;16710414;16344560;15592455;15489334;11891061;19773279;20360068;21139048;21890473 148423 Q8N6N3 ABBA01045640;AF387611;AF387612;AK126929;AL590113;AMYH01000754;AY486331;AY486332;BC029538;BX118798;CH471097;DA214065;NM_198077;NR_024113 AAH29538;AAL91352;AAL91353;AAS57906;AAS57907;BAG54401;EAW73209;NP_932343;Q8N6N3 Hs.26226 1648111 SHGC-75084 FLJ44982;RP11-234D19.1;gm117 BCL10-associated gene protein;OTTHUMP00000011650;UPF0690 protein C1orf52;hypothetical protein LOC148423 protein-coding 24871 16637 VALIDATED 1312112 C1orf35 chromosome 1 open reading frame 35 1 1 1 q42.13 201478660 201481254 - 226355051 226357645 - 228288428 228291022 - 6480464 21145461;16710414;16189514;15635413;15489334;14702039;12545221;12477932;21832049;16196087;21044950;21628590;21139048 79169 Q9BU76 ABBA01005830;AK123377;AK126087;AL136379;AMYH01001791;AY137773;BC002843;BC062585;CH471098;NM_024319 AAH02843;AAH62585;AAN15215;ACE87052;ACE87734;BAC85598;BAC86431;EAW69837;EAW69838;EAW69839;NP_077295;Q9BU76 Hs.743343 1644601;2186213 SHGC-76454;SHGC-76467 MGC4174;MMTAG2;hMMTAG2 OTTHUMP00000035918;multiple myeloma transforming 2;multiple myeloma tumor-associated protein 2 protein-coding ENSG00000143793 19032 08512;10090 PROVISIONAL 1603678 C1orf43 chromosome 1 open reading frame 43 1 1 1 q21.2 127250901 127264989 - 152445807 152459897 - 154179183 154193273 - 6480464 18029348;16710414;16094384;15489334;12477932;11230159;11042152;17207965;21906983;21963094;23167344;22505724 25912 Q09GN0;Q9UFU2 ABBA01049475;ABBA01049476;AF077036;AF109185;AF529365;AJ243663;AJ243664;AJ243665;AK290583;AL117463;AL590431;AMYH01001414;AMYH01001415;BC000152;BC001377;BC006514;BC008306;BC014391;BC088353;BU072807;CH471121;CR457131;DB457727;DQ908899;DR007097;NM_001098616;NM_015449;NM_138740 AAD27769;AAH00152;AAH01377;AAH06514;AAH08306;AAH14391;AAH88353;AAQ09599;AAQ13494;ABI60896;ADQ31620;BAF83272;CAB55939;CAB65094;CAB65095;CAB65096;CAG33412;EAW53221;EAW53222;EAW53223;EAW53224;EAW53225;EAW53226;EAW53227;NP_001092086;NP_056264;NP_620077;Q9BWL3 Hs.287471 1735654;1739155;1848456;1850070;2138400;2147428;2171874;5016478;5037552 A002G29;D1S1842E;D1S1900E;D1S2274;D8S2279;D9S2048;GDB:434012;RH11751;RH12547 DKFZp586G1722;HSPC012;MGC111001;NICE-3;NS5ATP4;S863-3 HCV NS5A-transactivated protein 4;OTTHUMP00000034197;OTTHUMP00000034198;OTTHUMP00000034199;OTTHUMP00000034200;OTTHUMP00000034201;OTTHUMP00000034202;hepatitis C virus NS5A-transactivated protein 4;hypothetical protein LOC25912;protein NICE-3;uncharacterized protein C1orf43 protein-coding ENSG00000143612 29876 16636 VALIDATED 1606868 C1orf53 chromosome 1 open reading frame 53 1 1 1 q31.3 170994586 170999402 + 196138400 196143120 + 197871682 197876497 + 6480464 16710414;15897902;15489334;12477932;23128233 388722 H7C0U6;Q5VUE5 ABBA01027585;AL590115;AMYH01001625;BC038214;BC130608;BC130634;CH471067;NM_001024594 AAI30609;AAI30635;ADR82820;EAW91286;NP_001019765;Q5VUE5 Hs.61329 OTTHUMP00000033684;OTTHUMP00000033685;hypothetical protein LOC388722;uncharacterized protein C1orf53 protein-coding ENSG00000203724 30003 18611 VALIDATED 1606237 C1orf54 chromosome 1 open reading frame 54 1 1 1 q21.2 123360914 123369066 + 148511822 148519951 + 150245183 150253335 + 6480464 16710414;16381901;15489336;15489334;14702039;12477932;11076863 79630 Q5TB16;Q8WWF1 ABBA01049330;ABBA01049331;AC242988;AI004135;AI342055;AK026874;AL138795;AMYH01001373;AX770997;AX770998;BC017761;CH471121;NM_024579 AAH17761;BAB15579;CAE01160;CAE01161;CAI22814;CAI22815;CAL37698;CAL37836;CAL37944;CAL38127;CAL38340;CAL38425;CAL38495;CAL38528;CAL38617;EAW53568;EAW53569;NP_078855;Q8WWF1 Hs.91283 FLJ23221 OTTHUMP00000014530;OTTHUMP00000014531;OTTHUMP00000014532;hypothetical protein LOC79630;uncharacterized protein C1orf54 protein-coding ENSG00000118292 26258 08020 VALIDATED 1607071 C1orf61 chromosome 1 open reading frame 61 1 1 1 q22 129446984 129472113 - 154640679 154665808 - 156374055 156399184 - 6480464 14702039;12477932;10995546;23012322;19922823;22589738 10485 H0Y3T1;H3BLW3;Q13536;Q86W69 ABBA01016658;AK095622;AK095626;AL139130;AMYH01001437;BC010558;BC016405;BC050448;BC050741;BC054045;BC059943;BC107686;BC128199;BC128200;BC141918;BC141919;CH471121;NM_006365;U49857 AAA93029;AAH50448;AAH59943;AAI52850;AAI56769;BAC04592;EAW52956;NP_006356;Q13536 Hs.380027 1659756;1694598;2111139;2135449;2147905;2158073 A002A24;D1S367E;G43296;RH12034;RH70654;STS-D51616 CROC4;FLJ38303;RP11-139I14.3 OTTHUMP00000029020;OTTHUMP00000029024;contingent replication of cDNA 4;contingent replication of cDNA-4;protein CROC-4;transcriptional activator of the c fos promoter;transcriptional activator of the c-fos promoter protein-coding ENSG00000125462 30780 09899 PROVISIONAL 1603978 C1orf63 chromosome 1 open reading frame 63 1 1 1 p36.13-p35.1 23893296 23898542 - 25441327 25446572 - 25568740 25573985 - 6480464 17207965;8125298;16189514;12477932;21700265;21832049 57035 F5GXR1;H3BMN1;H3BMX3;H3BP33;H3BT33;H3BTJ0;H3BVB7;Q9BUV0 ABBA01059930;AF247168;AF267856;AK027318;AK226012;AK292532;AK296798;AL031432;AL576262;AMYH01000380;BC001892;BC041843;BC065040;BI756502;CH471134;NM_020317 AAG44543;AAG44725;AAH01892;AAH41843;AAH65040;ADQ31734;BAB55038;BAF85221;BAG59373;EAW95157;EAW95158;EAW95159;EAW95160;EAW95161;NP_064713;Q9BUV0 Hs.259412;Hs.695168 1734198;2121683;2134980;2170402 D1S1736E;SHGC-74392;SHGC-74420;SHGC-74430 DJ465N24.2.1;NPD014;RP3-465N24.4 OTTHUMP00000040540;UPF0471 protein C1orf63;hypothetical protein LOC57035 protein-coding ENSG00000117616 25234 14835 VALIDATED 1603033 C1orf56 chromosome 1 open reading frame 56 1 1 1 q21.3 124135566 124139206 + 149286883 149290520 + 151020259 151023896 + 12975309;12477932 54964 Q9BUN1 ABBA01049368;AK000526;AK315680;AL590133;AMYH01001386;AY358436;BC002469;CH471121;NM_017860 AAH02469;AAQ88802;BAA91231;BAG38045;EAW53481;EAW53482;NP_060330;Q9BUN1 Hs.549171 1674806;1687191;1697834;1770794;1851755 RH102442;RH93368;SHGC-57518;SHGC-57939;WI-17680 FLJ20519;MENT;RP11-316M1.9 OTTHUMP00000033119;hypothetical protein LOC54964;methylated in normal thymocytes protein;protein MENT;uncharacterized protein C1orf56 protein-coding ENSG00000143443 26045 08625 PROVISIONAL 1601890 C1orf81 chromosome 1 open reading frame 81 1 q32.1 199151855 199202415 + 647215 AC099756;DQ983818;XM_930255;XM_930256;XM_940946 XP_935348;XP_935349;XP_946039 Hs.576503 1848272 AL009556 protein-coding 33122 1602382 C1orf68 chromosome 1 open reading frame 68 1 1 1 q21.3 125770080 125770987 + 150958622 150959529 + 152691998 152692905 + 9344646;17562024;16710414;11698679;11181995;20200978;20360068;21139048 100129271 Q5T750 ABBA01049425;AF005081;AL353779;AMYH01001401;CH471121;CU446285;CU457096;NM_001024679 AAB83961;EAW53369;NP_001019850;Q5T750 Hs.601077 LEP7;XP32 OTTHUMP00000014332;skin-specific protein (xp32);skin-specific protein 32 protein-coding ENSG00000198854 29468 VALIDATED 1603359 C1orf64 chromosome 1 open reading frame 64 1 1 1 p36.13 14810626 14813075 + 16203318 16205771 + 16330731 16333180 + 6480464 16710414;15489334;12477932;21832049;22341523 149563 Q8NEQ6 ABBA01004687;AK127425;AL355994;AMYH01000276;BC017946;CH471167;NM_178840 AAH17946;BAG54501;EAW51759;NP_849162;Q8NEQ6 Hs.29190 ERRF;MGC24047;RP11-5P18.4 ER-related factor;OTTHUMP00000011115;putative uncharacterized protein C1orf64;uncharacterized protein C1orf64 protein-coding 28339 14492 PROVISIONAL 1603881 C1orf67 chromosome 1 open reading frame 67 1 q42.12 223183986 223222249 + 6480464 15146197;12477932 200095 AC093560;AI076810;AL590547;BC017415;BC042869;BC119716;BC119717;CH471098;CN257875;NM_144989 AAI19717;AAI19718;CAH73045;EAW69735;EAW69740;NP_659426;Q0VDD8 Hs.133977 MGC149665;MGC149666;MGC27277;MGC51214 protein-coding 28411 1602974 C1orf65 chromosome 1 open reading frame 65 1 1 1 q41 196786071 196788168 + 221633391 221635435 + 223566715 223568812 + 16710414;16189514;15489334;14702039;12477932 164127 Q8N715 ABBA01006372;AK093047;AL590669;AMYH01001751;BC030026;BC031066;CH471100;DB446947;NM_152610 AAH30026;AAH31066;ADZ16013;BAC04033;EAW93256;NP_689823;Q8N715 Hs.192090 FLJ35728;RP11-76K24.1 OTTHUMP00000036091;hypothetical protein LOC164127;uncharacterized protein C1orf65 protein-coding ENSG00000178395 26654 08761 VALIDATED 1605215 C1orf95 chromosome 1 open reading frame 95 1 1 1 q42.12 199927428 199984233 + 224803124 224859926 + 226736501 226796915 + 6480464 20379614;16710414;16381901;15489336;11230166;11076863;9110174;8619474 375057 F8WD64;Q69YW2 ABBA01009636;ABBA01009637;AF035308;AL134612;AL137507;AL357122;AL359704;AL365444;AMYH01001779;NM_001003665 AAI41660;CAH10697;CAL38625;NP_001003665;Q69YW2 Hs.116827 1643632;1699822;1727339;1732910;1754395;1761731;1778334;2140226;2162443;2166507;2170042 D1S1320;D1S1836E;D1S2578;G63077;RH103518;SHGC-132406;SHGC-145705;SHGC-2930;STS-Z40703;WI-13390;WI-15617 DKFZp761P211;RP11-9C4.1 OTTHUMP00000035707;hypothetical protein LOC375057;spec3-like;uncharacterized membrane protein C1orf95 protein-coding ENSG00000203685 30491 16821 VALIDATED 1603567 C1orf84 chromosome 1 open reading frame 84 1 1 1 p34.2 42137708 42154717 + 43628143 43645152 + 43855556 43872565 + 15028280;14702039;12477932;10737800 149469 AK091821;AL139289;AL583862;BC017576;BC051343;BF926328;BF927604;BU101724;NM_001012961 AAH17576;BAC03755;CAI23383;CAI23384;NP_001012979 Hs.711213 FLJ34502;RP11-506B15.1;SZT2A OTTHUMP00000008576;OTTHUMP00000008577;OTTHUMP00000205510;hypothetical protein LOC149469;seizure threshold 2 homolog A protein-coding 27144 14085 VALIDATED 1602983 C1orf87 chromosome 1 open reading frame 87 1 1 1 p32.1 58744771 58828195 - 60228654 60312014 - 60456066 60539442 - 6480464 12477932;21832049 127795 C9JPP7;Q8N0U7 ABBA01074644;AC097066;AK124828;AK126061;AMYH01000660;AMYH01000661;BC027878;BC042203;CD707889;CH471059;NM_152377 AAH27878;AAH42203;BAC86420;BAG54102;EAX06609;EAX06610;NP_689590;Q8N0U7 Hs.47385 1653982;1671137;1692212;1692894;1727343 AL009480;AL009881;AL033761;AL034159;G63079 FLJ44073;MGC34837 OTTHUMP00000010551;hypothetical protein LOC127795;uncharacterized protein C1orf87 protein-coding ENSG00000162598 28547 11338 VALIDATED 1606707 C1orf74 chromosome 1 open reading frame 74 1 1 1 q32.2 183186556 183188784 - 208022285 208024513 - 209955662 209957890 - 6480464 16710414;15489334;14702039;12477932;21628590 148304 Q96LT6 ABBA01048213;AK057807;AL022398;AMYH01001696;BC039719;CH471100;NM_152485 AAH39719;BAB71584;EAW93440;NP_689698;Q96LT6 Hs.497642 1683289;1689604;2167949 RH67815;RH98921;SHGC-76222 FLJ25078 OTTHUMP00000034651;UPF0739 protein C1orf74;hypothetical protein LOC148304 protein-coding ENSG00000162757 26319 08682 PROVISIONAL 1347949 C1QBPP complement component 1, q subcomponent binding protein, pseudogene 21 21 21 q21.1 6300879 6301886 - 20053205 20054410 - 21131434 21132441 - 10830953 54098 ABBA01057150;AMYH01012156;AP000568;NG_000929 pseudo 1244 INFERRED 1602078 C1orf85 chromosome 1 open reading frame 85 1 1 1 q22 129335452 129338417 - 154529108 154532073 - 156262478 156265480 - 6480464 12477932;19556463;18021396;16303743;12975309;20139978;15342556;16341674;16344560;8889548;19489740 112770 Q8WWB7 ABBA01016664;AK075349;AK296157;AL528533;AL589685;AMYH01001436;AW293248;AY358450;BC011575;BC018757;BC036340;BM833126;BP302818;CA428514;CH471121;CN479212;CS051139;CS072256;CX756681;DA537642;N72839;NM_001256604;NM_001256605;NM_001256608;NM_001256609;NM_144580 AAH11575;AAH18757;AAH36340;AAQ88815;BAC11561;BAG58896;CAI72065;CAI93394;EAW52968;EAW52969;NP_001243533;NP_001243534;NP_001243537;NP_001243538;NP_653181;Q8WWB7 Hs.202522 1652543;1686360;2113474 D1Z10;RH69259;RH92907 MGC31963;NCU-G1;RP11-443G18.2 OTTHUMP00000021233;kidney lysosomal membrane protein;kidney predominant protein NCU-G1;lysosomal protein NCU-G1 protein-coding ENSG00000198715 29436 14544 VALIDATED 1604208 C1orf86 chromosome 1 open reading frame 86 1 1 1 p36.33 453322 477308 + 2110847 2116074 - 2115899 2144159 - 6480464 16344560;14702039;12477932;12136098;11181995;8889548;15146197;19322201;22266823;22705371;22396592 199990 H7C2E6;H7C361;H7C3A6;Q6ZRT9;Q7Z4P6;Q96ND7 ABBA01016086;ABBA01016087;AF461903;AF469129;AJ327662;AK054818;AK055593;AK093927;AK125445;AK126870;AK127994;AK128507;AL545931;AL590822;AMYH01000164;AMYH01000165;AMYH01000166;AMYH01000167;AMYH01000168;AMYH01000169;AMYH01000170;BC041041;BC066360;BC078145;BC103992;BM127377;BM674927;BM682341;BU192678;BU542153;BU626113;CH471183;CN397640;DA596011;NM_001146310;NM_001256945;NM_001256946;NM_001256947;NM_182533;NR_046424;NR_046425;NR_046426;NR_046427 AAH66360;AAI03993;AAP97719;AAQ04817;BAB70965;BAC04254;BAC86730;BAC87220;EAW56125;EAW56126;EAW56127;EAW56128;EAW56129;NP_001139782;NP_001243874;NP_001243875;NP_001243876;NP_872339;Q6NZ36 Hs.107101 1334568;1667480;1679804;1699590;1758967;1769715;2177973;5014003;5015619;5015961;5022322;5022578;5022651;5037552;5112017;5125079;7183686 D11S2560;D11S2921;D11S3114;D15S1477;D17S1136;D1S1423;D1S243;D8S2279;G44365;RH103396;RH16310;RH98469;SHGC-3360;SHGC-74104;SHGC-74107;SHGC-74115 FAAP20;FLJ30256;FLJ31031;FLJ36608;FLJ43456;FLJ46660;FP7162;MGC120153;RP11-181G12.3 Fanconi anemia-associated protein of 20 kDa;OTTHUMP00000039102;OTTHUMP00000196439;OTTHUMP00000196440;OTTHUMP00000196441;OTTHUMP00000196443;OTTHUMP00000196444;hypothetical protein LOC199990;uncharacterized protein C1orf86 protein-coding ENSG00000162585 26428 08707 615183 VALIDATED 1602848 C1orf94 chromosome 1 open reading frame 94 1 1 1 p34.3 32904826 32956861 + 34415858 34457319 + 34632624 34684732 + 16713569;16344560;16189514;14702039;12477932;17207965;16751776;22949513;23088713 84970 Q6P1W5 AA725646;ABBA01023367;ABBA01023368;AC115286;AK123355;AMYH01000483;AMYH01000484;AW117410;BC007637;BC064845;CH471059;DA714248;DB456109;NM_001134734;NM_032884 AAH07637;AAH64845;ADQ32171;BAG53893;EAX07445;EAX07446;NP_001128206;NP_116273;Q6P1W5 Hs.194610 1338171;1713513;1752649;2134459;2151553 AFMb043xh1;D1S2613;G16319;RH120241;SHGC-106497 MGC15882 OTTHUMP00000004131;OTTHUMP00000235371;hypothetical protein LOC84970;uncharacterized protein C1orf94 protein-coding ENSG00000142698 28250 11310 VALIDATED 1315493 C1QA complement component 1, q subcomponent, A chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008] 1 1 p36.12 22835705 22838762 + 22963118 22966175 + 1600549;1580863;6480464;6907045;7240710 8840296 9461517;18029348;814163;1249422;18927313;18505047;18504288;18406463;18174230;18054386;17929239;16710414;16566583;16465510;16335952;16046396;15878871;15489334;15231748;15034050;12960167;12847249;12645945;12630757;12477932;11714829;10878362;10528211;9777412;9476117;9225968;9184145;9013976;8778019;8417122;8195709;8172568;7939135;6981411;6981115;2372546;1706597;1537612;1431141;486087;7240;7739575;9780209;9444979;9223728;9052718;1744579;9443108;1875953;12396016;7642209;7507842;11318594;10504397;8252810;8245486;10490997;21862594;20008834;20496011;19423540;19440201;19484134;19493541;19656971;19896716;20139276;20237496;20332777;20406964;20438785;20528885;20560256;21159384;19913121;20628086;17207965;21343881;21256764;21429584;21134100;22472776;22740328;23086952;22879587;23607884;23650384;21951915;22236909;21968398;22321011;22260551;22356764;15174051;21382349;21988832;23080069;22700724 712 P02745 ABBA01059851;AF135157;AF260332;AK311980;AL158086;AMYH01000352;AY789471;BC030153;BC071986;BG548439;BX369252;CH471134;NG_007282;NM_015991 AAD32626;AAG44663;AAH30153;AAH71986;AAV40828;ACE87827;ACT64581;ADQ32158;BAG34919;EAW95014;EAW95015;NP_057075;P02745 Hs.632379 1656224;1775129;1795226 C1QA_66;D1S3273;WI-8760 OTTHUMP00000002936;OTTHUMP00000037919;OTTHUMP00000197085;complement C1q subcomponent subunit A;complement component 1, q subcomponent, alpha polypeptide;complement component C1q, A chain APPROVED protein-coding ENSG00000173372 1241 00393 120550;613652 REVIEWED 1346671 C1QB complement component 1, q subcomponent, B chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q [provided by RefSeq, Jul 2008] 1 1 p36.12 22852269 22860616 + 22979682 22988029 + 1599518;1599508;1599509;1599510;1580863;6480464;6907045;7240710 1362796;16934480;16677633;16345062 1706597;814163;1249422;19344414;18505047;18174230;17513176;16710414;16566583;15709773;15489334;15034050;12960167;12847249;12645945;12477932;10882776;10471215;9777412;9444979;9184145;7939135;6981411;6208566;3180845;3000358;2894352;1537612;1370572;708376;486087;7739575;9780209;1744579;9443108;1875953;12396016;7642209;7507842;11318594;10504397;8252810;8245486;16289162;19423540;19493541;20139276;20237496;20379614;20406964;20438785;20528885;21698244;23607884;23650384;23750785;21951915;21862594;22740328;21988832;7240 713 D6R934;D6RA08;D6RGJ1;P02746 ABBA01059851;AL158086;AMYH01000352;BC008983;BQ711602;CH471134;K03430;L80036;M36278;NG_007283;NM_000491;X03084 AAC41692;AAH08983;AAQ67338;ABM82457;ABM85646;CAA26880;EAW95019;EAW95020;EAW95021;NP_000482;P02746 Hs.8986 1775112;1778347;1791586;1797334;2123915;2132363 C1QB_68.2;PMC115884P1;RH70806;RH78269;SHGC-74363;SHGC-74365 OTTHUMP00000002940;OTTHUMP00000002941;OTTHUMP00000217779;complement C1q subcomponent subunit B;complement component 1, q subcomponent, beta polypeptide;complement component C1q, B chain;complement subcomponent C1q chain B APPROVED protein-coding ENSG00000173369 1242 00394 120570;613652 REVIEWED 1322092 C1QL3 complement component 1, q subcomponent-like 3 10 10 10 p13 16488949 16497211 - 16595748 16604010 - 16555742 16564004 - 6480464 15164054;14702039;10862616;12477932;21378161 389941 Q5VWW1 ABBA01034568;AK094686;AL353576;AL360230;AMYH01002065;BC127716;BC127717;CH471072;CS019532;NM_001010908 AAI27717;AAI27718;AAI60038;CAI58841;EAW86225;NP_001010908;Q5VWW1 Hs.676792;Hs.745101 1655529;1688801;2218324 C1QL3_4481;RH48169;RH98481 C1QTNF13;C1ql;CTRP13;K100 C1q and tumor necrosis factor-related protein 13;C1q/TNF-related protein 13;OTTHUMP00000019215;complement C1q-like protein 3 protein-coding ENSG00000165985 19359 16632 615227 VALIDATED 1314427 C1QL1 complement component 1, q subcomponent-like 1 17 17 17 q21 39747598 39756182 - 40392587 40401170 - 43037061 43045644 - 1580863;6480464 9878755;19275900;15489334;12477932;20237496;19322201 10882 O75973 ABBA01028341;AC015936;AF095154;AF410771;AMYH01008432;AMYH01008433;BC008798;CH471178;NM_006688 AAC64186;AAH08798;AAK95248;EAW51563;NP_006679;O75973 Hs.134012 C1QRF;C1QTNF14;CRF C1q and tumor necrosis factor-related protein 14;C1q-related factor;C1q/TNF-related protein 14;OTTHUMP00000222953 protein-coding ENSG00000131094 24182 12712 611586 PROVISIONAL 1350440 C1QL2 complement component 1, q subcomponent-like 2 2 2 2 q14.2 113239899 113242551 - 119630289 119632941 - 119913819 119916471 - 1580863 18783346;12477932;20237496 165257 Q7Z5L3 ABBA01045930;ABBA01045931;AC016673;AF525315;AMYH01010986;BC043189;BC067896;BC142965;CH471103;CS057609;NM_182528 AAP80787;CAI77590;EAW95208;NP_872334;Q7Z5L3 Hs.433493 C1QTNF10;CTRP10 C1q and tumor necrosis factor related protein 10;C1q and tumor necrosis factor-related protein 10;C1q-domain containing protein;C1q/TNF-related protein 10;OTTHUMP00000203593;complement C1q-like protein 2;gliacolin-like protein-coding ENSG00000144119 24181 12713 614330 VALIDATED 7244829 C1QTNF1-AS1 C1QTNF1 antisense RNA 1 16344560 100507410 ABBA01002902;AC073624;AI031573;AMYH01008678;BC039683;DA938488;NR_040018;NR_040019 Hs.666723 1338130;1699854;1759661 D17S1847;RH103534;SHGC-151249 miscrna ENSG00000265096 44351 VALIDATED 1342690 C1QBP complement component 1, q subcomponent binding protein The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008] 17 17 p13.3 5276823 5283195 - 5336099 5342471 - 1580863;6480464 17620599;22354994;14667819;15231747;8195709;19164550;19004836;18757437;18676636;18538737;18460468;18358546;17907801;17892212;16893067;16871385;16713569;16641292;16455055;16177118;16164755;16140380;16039650;15489334;15467913;15324660;15243141;15163734;15031724;14583623;12833064;12574814;12538033;12477932;12443542;12220632;11870091;11866440;11773076;11549288;11350968;11278463;10831594;10823864;10747014;10097078;10022843;9721222;9284938;8626563;8567680;8262387;8189522;7778269;2372546;1830244;16537587;21627988;11290596;17881511;19190731;19423540;19473882;19565630;19710015;19828637;20100866;20406964;20438785;19913121;20628086;20877624;11859136;8662673;9461517;21156793;21205079;19454010;17620012;21248045;19523114;22863883;16721827;22939629;22960332;17676665;19149558;20617170;22952844;16196087;17314511;20186120;20360068;21081666;21536672;21559373;22008525;21725590;22114354;16212417;17979178;19738201;21988832;22771308;22904065;23246001;23438482;21536856;14559993;18781797;21139048;21726808;21890473;21906983;22118674;22145905;21628590;22101277;22451658;19836239;18172692;21145461;22700724;8710908 708 I3L3B0;I3L3Q7;Q07021 ABBA01054814;AC004148;AF275902;AF338439;AJ297362;AK291516;AMYH01008051;BC000435;BC013731;BT019898;BT019899;CH471108;DQ372108;L04636;NM_001212;X75913 AAA16315;AAF78763;AAH00435;AAH13731;AAK26580;AAV38701;AAV38702;ABC79624;ABM82257;ABM84292;ABM85440;ABM87682;BAF84205;CAA53512;CAB95947;EAW90335;EAW90336;EAW90337;NP_001203;Q07021 Hs.555866 1853151;2148420;2184685;2217086;5123392 C1QBP_3122;D17S2014;RH78721;STS-R63801;WI-18770 GC1QBP;HABP1;SF2p32;gC1Q-R;gC1qR;p32 ASF/SF2-associated protein p32;C1q globular domain-binding protein;complement component 1 Q subcomponent-binding protein, mitochondrial;glycoprotein gC1qBP;hyaluronan-binding protein 1;mitochondrial matrix protein p32;p33;splicing factor SF2-associated protein APPROVED protein-coding ENSG00000108561 1243 03168 601269 REVIEWED 1315664 C1QC complement component 1, q subcomponent, C chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.11 22842734 22847190 + 22970118 22974603 + 1580863;6480464;6907045 1249422;9777412;19493541;19344414;19115936;18838169;18703056;18505047;18504288;18174230;16710414;16566583;16381901;16344560;15489336;15489334;15034050;14702039;12960167;12847249;12645945;12477932;11076863;8630118;7939135;3180845;1706597;486087;7739575;1744579;9443108;1875953;12396016;7642209;7590886;7507842;11318594;10504397;8252810;8245486;10961870;18029348;814163;20833838;19710097;19913121;20628086;15353007;19423540;19790049;20139276;20237496;20406964;20438785;20528885;15174051;23607884;23650384;23750785;21862594;22264191;22740328 714 P02747 ABBA01059851;AF087892;AK057792;AK130613;AK226152;AL158086;AMYH01000352;BC009016;BG060138;CB995661;CH471134;DA849505;NG_007565;NM_001114101;NM_172369 AAH09016;AAP97191;BAB71575;CAL37759;CAL38110;CAL38396;EAW95016;EAW95017;EAW95018;NP_001107573;NP_758957;P02747 Hs.467753 2126558;2162810 RH12869;SHGC-74373 C1Q-C;C1QG;FLJ27103 OTTHUMP00000002932;OTTHUMP00000002933;OTTHUMP00000037922;complement C1q subcomponent subunit C;complement component 1, q subcomponent, gamma polypeptide APPROVED protein-coding ENSG00000159189 1245 00395 120575;613652 REVIEWED 1604955 C1QL4 complement component 1, q subcomponent-like 4 12 12 12 q13.12 48519505 48524276 - 48012467 48017238 - 49726200 49730971 - 15489334;12477932 338761 Q86Z23 ABBA01031521;ABBA01031522;AC125611;AF466366;AMYH01004441;AX925776;BC110812;CH471111;NM_001008223 AAI10813;AAO33387;CAF02403;EAW58065;NP_001008224;Q86Z23 Hs.380386 C1QTNF11;CTRP11;MGC131708 C1q and tumor necrosis factor-related protein 11;C1q/TNF-related protein 11;OTTHUMP00000241396;complement C1q-like protein 4 protein-coding ENSG00000186897 31416 17350 615229 PROVISIONAL 1350694 C1QTNF1 C1q and tumor necrosis factor related protein 1 17 17 17 q25.3 73618468 73644096 + 74531846 74557465 + 77019016 77045870 + 1580863;6480464 18842294;18783346;18171693;16806199;16303743;15489334;14702039;12975309;12477932;12409230;16189514;23000311;16713569;16344560;16386877;21078624 114897 Q6ZMH6;Q9BXJ1 ABBA01002902;AC073624;AF232905;AF329840;AJ272138;AK055541;AK075175;AK172767;AK292034;AMYH01008678;AY358424;BC021553;CD250839;CH471099;CQ764845;CQ783254;DA877694;DA910618;DB126803;NM_030968;NM_153372;NM_198593;NM_198594;NR_049769 AAG44303;AAH21553;AAK17964;AAQ88790;ABM83468;ABM86679;BAB70947;BAC11451;BAD18750;BAF84723;CAC20425;CAF32794;CAF86457;EAW89557;EAW89558;NP_112230;NP_699203;NP_940995;NP_940996;Q9BXJ1 Hs.201398;Hs.741602 1338130;1649916;1759661 D17S1847;D17S1987;SHGC-151249 CTRP1;FLJ90694;GIP;ZSIG37 G protein coupled receptor interacting protein;complement C1q tumor necrosis factor-related protein 1;g protein-coupled receptor-interacting protein protein-coding ENSG00000173918 14324 610365 VALIDATED 1345449 C1QTNF8 C1q and tumor necrosis factor related protein 8 16 16 16 p13.3 1352946 1361608 - 1078227 1086245 - 1138226 1146244 - 12975309;19666007 390664 P60827 ABBA01030330;AC009041;AL031713;AMYH01007017;AY358832;CH471112;FJ422561;NM_207419 AAI56256;AAI57037;AAQ89191;ACJ46463;EAW85686;NP_997302;P60827 Hs.527853 CTRP8;UNQ5829 C1q/TNF-related protein 8;OTTHUMP00000236763;complement C1q tumor necrosis factor-related protein 8 protein-coding 31374 12719 614147 VALIDATED 1312783 C1QTNF3 C1q and tumor necrosis factor related protein 3 5 5 p13 34053720 34079074 - 34017963 34043371 - 6480464 18421280;17534697;17311679;16303743;14702039;14654242;12975309;12477932;11071891;20634891;20483475;20952387;20739398;22837306;16213490 114899 E9PGA6;Q9BXJ4 ABBA01066761;AC139783;AF173888;AF326976;AF329837;AK075533;AK094895;AK127389;AK295968;AK315921;AMYH01015008;AY358388;BC016021;BC112925;BC120990;BX483406;BX640995;CH471118;CS023766;CS051375;EU399231;EU399232;NM_030945;NM_181435 AAI12926;AAI20991;AAK17961;AAK70344;AAQ13635;AAQ88754;ABY86416;ABY86417;BAC11676;BAG54499;BAG58744;BAH14292;CAE45998;CAI59108;CAI72182;EAX10819;EAX10820;EAX10821;NP_112207;NP_852100;Q9BXJ4 Hs.171929 1645945;1657724;1693312;5015881;5022651 D11S2921;G42361;GDB:335751;STS-AA025644;WI-22131 C1ATNF3;CORS26;CTRP3;Corcs;Cors;Cors-26;FLJ37576 OTTHUMP00000115918;OTTHUMP00000219981;cartonectin;collagenous repeat-containing sequence 26 kDa protein;collagenous repeat-containing sequence of 26-kDa;complement C1q tumor necrosis factor-related protein 3;complement-c1q tumor necrosis factor-related protein 3;secretory protein CORS26 protein-coding 14326 12716 612045 VALIDATED 6481186 C1QTNF9-AS1 C1QTNF9 antisense RNA 1 100874232 AL359736 APPROVED miscrna 39906 1348725 C1QTNF2 C1q and tumor necrosis factor related protein 2 5 5 5 q33.3 155807245 155830113 - 159707339 159730226 - 159774761 159797648 - 1580863;6480464 15489334;12975309;12477932 114898 Q9BXJ5 ABBA01044220;ABBA01044221;AC091842;AC112191;AF329836;AMYH01015760;AY358839;BC011699;BC054506;CH471062;NM_031908 AAH11699;AAH54506;AAK17960;AAQ89198;ABM84187;ABM87589;EAW61561;NP_114114;Q9BXJ5 Hs.110062 1683771;2117440;5015961;5094934 C1QTNF2;D15S1477;RH94108;SHGC-57747 CTRP2;zacrp2 OTTHUMP00000160840;complement C1q tumor necrosis factor-related protein 2;complement-c1q tumor necrosis factor-related protein 2 protein-coding ENSG00000145861 14325 12715 VALIDATED 1322231 C1QTNF4 C1q and tumor necrosis factor related protein 4 11 11 11 q11 47753979 47758717 - 47567792 47572537 - 47611216 47615961 - 6480464 16094384;15489334;12477932;21658842 114900 E9PPZ5;Q9BXJ3 ABBA01060698;ABBA01060699;AC104942;AF329838;AMYH01003544;BC035628;BI756346;CH471064;CS208003;NM_031909 AAH35628;AAK17962;CAJ44927;EAW67893;NP_114115;Q9BXJ3 Hs.662633 CTRP4;ZACRP4 OTTHUMP00000234365;complement C1q tumor necrosis factor-related protein 4;complement-c1q tumor necrosis factor-related protein 4 protein-coding ENSG00000172247 14346 12717 614911 VALIDATED 1318784 C1QTNF5 C1q and tumor necrosis factor related protein 5 This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013] 11 11 q23.3 118714862 118716791 - 119209652 119217383 - 1580863;6480464;7240710 15489334;18842294;17766366;17249553;16600989;16396496;16376663;16123441;15340161;14702039;12975309;12944416;12477932;9512423;20554618;22031510;22110650;11263980;18783346;19651784;20621834;22183337;22261190;7835092;22892318;22277927;22632162 114902 Q9BXJ0;Q9BY79 AB055505;ABBA01039674;AF086482;AF329841;AJ862823;AK055132;AL110261;AMYH01004082;AP003396;AY358383;BC029485;BC036675;CH471065;EF444994;NG_012235;NM_001278431;NM_015645 AAH29485;AAK17965;AAQ88749;ACA06014;CAB53702;CAH93522;EAW67481;EAW67482;NP_001265360;NP_056460;Q9BXJ0 Hs.632102 1847650;2219924 D11S869E;MFRP__6310 CTRP5;DKFZp586B0621;FLJ30570;LORD C1q TNF-alpha-related protein 5;complement C1q tumor necrosis factor-related protein 5;myonectin APPROVED protein-coding ENSG00000223953 14344 10575 605670;608752 REVIEWED 1605504 C1QTNF9B C1q and tumor necrosis factor related protein 9B 13 13 13 q12.12 5528082 5533781 - 23363428 23369125 - 24465428 24471125 - 17544811;12477932;19666007;21640322 387911 B2RNN3 ABBA01007883;AL445985;AMYH01004971;AX525130;BC110413;BC137004;BC137006;BC144450;NM_001007537 AAI10414;AAI37005;AAI37007;B2RNN3;CAD57043;NP_001007538 Hs.740810 1697282 RH102138 CTRP9B;MGC117159;RP11-45B20.2 C1q/TNF-related protein 9B;OTTHUMP00000018118;OTTHUMP00000018120;collagen triple helix repeat-containing;complement C1q and tumor necrosis factor-related protein 9B;complement C1q tumor necrosis factor-related protein 9-like;complement C1q tumor necrosis factor-related protein 9B protein-coding ENSG00000205863 34072 17369 614148 PROVISIONAL 1316024 C1QTNF6 C1q and tumor necrosis factor related protein 6 22 22 22 q13.1 21377248 21385372 - 35906152 35914276 - 37576206 37584330 - 6480464 19073967;18978792;15489334;15461802;15340161;12975309;12477932;8889548;19430480;20203524;20410501;21508531;22493691 114904 F8WC87;Q9BXI9 ABBA01055461;AF329842;AK128125;AK226149;AK314060;AMYH01012753;AY358374;BC020551;BM678522;BM722009;BQ674594;BU147265;BU535692;BU542015;BU859813;CB961508;CH471095;CR456451;NM_031910;NM_182486;Z82188 AAH20551;AAK17966;AAQ88740;ABM82401;ABM85589;BAC87283;BAG36766;CAG30337;CAK54433;CAK54732;EAW60145;EAW60146;NP_114116;NP_872292;Q9BXI9 Hs.22011 1690374;2146893;5037552 D8S2279;RH91409;STS-AA011279 CTFP6;CTRP6;ZACRP6 OTTHUMP00000197772;OTTHUMP00000197774;complement C1q tumor necrosis factor-related protein 6;complement-c1q tumor necrosis factor-related protein 6 protein-coding ENSG00000133466 14343 12718 614910 VALIDATED 1602167 C1QTNF9 C1q and tumor necrosis factor related protein 9 13 13 13 q12.12 5946381 5959337 + 23781716 23794669 + 24883716 24896669 + 6480464 12477932;18787108;12975309;17207965 338872 P0C862 ABBA01007888;ABBA01007889;AL359736;AMYH01004973;AY358145;BC040438;BI767787;CH471075;NM_178540 AAH40438;AAQ88512;ADQ33014;EAX08334;EAX08335;NP_848635;P0C862 Hs.362854 1697282 RH102138 AQL1;C1QTNF9A;CTRP9;MGC48915 OTTHUMP00000018123;OTTHUMP00000018124;OTTHUMP00000018125;complement C1q and tumor necrosis factor-related protein 9;complement C1q and tumor necrosis factor-related protein 9A;complement C1q tumor necrosis factor-related protein 9;complement C1q tumor necrosis factor-related protein 9A protein-coding ENSG00000240654 28732 14659 614285 VALIDATED 1315898 C1QTNF7 C1q and tumor necrosis factor related protein 7 4 4 4 p15.3 15805380 15911648 + 14950710 15056365 + 15341560 15447791 + 1580863;6480464 19344414;16344560;15489334;12477932;20585324 114905 J3KPK0;Q9BXJ2 ABBA01032569;ABBA01032570;AC007016;AC099550;AF329839;AK314802;AMYH01014021;BC022187;BC024015;BE856929;BX647781;CH471069;DB069980;DB290077;NM_001135170;NM_001135171;NM_031911 AAH22187;AAH24015;AAK17963;ACE87828;ACT64539;BAG37330;EAW92731;NP_001128642;NP_001128643;NP_114117;Q9BXJ2 Hs.153714 1647888;1711876;1768319;1784996;1846945;2181127;5017535 C1QTNF7;G01801;G49547;SHGC-112449;SHGC-59710;SHGC-67625;WI-3239 CTRP7;ZACRP7 OTTHUMP00000122629;OTTHUMP00000159165;OTTHUMP00000217620;OTTHUMP00000217621;complement C1q tumor necrosis factor-related protein 7;complement-c1q tumor necrosis factor-related protein 7 protein-coding ENSG00000163145 14342 16633 VALIDATED 1602383 C1QTNF9B-AS1 C1QTNF9B antisense RNA 1 13 13 13 q12 5525682 5528896 + 23361028 23364242 + 24463028 24466242 + 6480464 16344560;15930275;12477932;21640322 542767 Q58A44 AB113650;ABBA01007883;AL445985;AMYH01004971;BC015452;BC073902;BC132842;BC132846;BC142999;DA867579;NM_001014442;NM_001135816 AAI40048;BAD93185;NP_001014442;NP_001129288;Q58A44 Hs.642624 1697282;1715469 RH102138;RH120899 PCOTH C1QTNF9B antisense RNA 1 (non-protein coding);prostate collagen triple helix protein;protein PCOTH APPROVED protein-coding 39839 18678 VALIDATED 6769130 C1RL-AS1 C1RL antisense RNA 1 12 p13.31 7260904 7274447 + 12975309;14702039 283314 ABBA01012194;ABBA01012195;ABBA01012196;AC018653;AC233309;AK091792;AL833364;AMYH01004212;AMYH01004213;AY358730;NR_026947 AAQ89092 Hs.744212 1657512;1693914 D12S1953;G42647 MATL2963 APPROVED miscrna ENSG00000205885 27461 PREDICTED 1349741 C20orf109 chromosome 20 open reading frame 109 140829 AL118499 dJ1168M15.1 hypothetical protein LOC140829;uncharacterized protein LOC140829 protein-coding 16103 1346750 C20orf113 chromosome 20 open reading frame 113 170486 AL034550 16107 1343891 C20orf131 chromosome 20 open reading frame 131 140698 AL136172 16124 1345661 C20orf153 chromosome 20 open reading frame 153 170489 AL356755 16146 1319235 C1R complement component 1, r subcomponent 12 12 p13 7132347 7136184 - 7187513 7189412 - 1600551;1580863;6480464;6907045;7240710 17244723 14718574;2834284;814163;1249422;17996945;16335952;15489334;14702039;12914573;12555245;12499050;12477932;12429092;11823416;11445589;11086101;9477945;9174342;8881771;8635594;8227070;8162045;8125298;6303394;3036070;3030286;3021205;2820791;2541966;1533159;737019;10878362;10092586;6282262;2372546;1370572;20008834;20178990;20970424;20592021;20796027;12788922;21988832;23589288;23650384;2387866 715 D3DUT5;F5GWL0;F5GZR1;F5H1N6;F5H1V0;F5H2D0;F5H3A3;F5H3N3;F5H6Y3;F6T9X8;H0YFH3;P00736;R4GMN6 AB083037;ABBA01012193;ABBA01017671;AC094008;AC140077;AC154092;AC233309;AK024951;AK094009;AK222481;AK222491;AK291313;AK298445;AK303750;AMYH01004212;BC035220;CH471116;M14058;NM_001733;X04701 AAA51851;AAH35220;ACE87845;ACT64363;ADZ15339;BAC19850;BAD96201;BAD96211;BAF84002;BAG60662;BAG64722;CAA28407;EAW88687;EAW88688;NP_001724;P00736 Hs.524224 1656329;1690232;1743061;2218742;5016851;5019691;5091782 A009F01;C1R_1615;G32495;GDB:251487;RH17663;RH75712;RH80031 OTTHUMP00000238099;OTTHUMP00000238100;OTTHUMP00000238101;complement C1r subcomponent;complement component 1 subcomponent r protein-coding 1246 01954 216950;613785 PROVISIONAL 1349686 C20orf157 chromosome 20 open reading frame 157 140896 AL031686 CAB42849;Q6KAL7 dJ981L23.3 protein-coding 16150 1347805 C20orf158 chromosome 20 open reading frame 158 85362 NM_152302 16151 1344242 C20orf159 chromosome 20 open reading frame 159 q11.2 140705 AL031658 CAB88102 dJ310O13.4 protein-coding 16152 1346889 C1RL complement component 1, r subcomponent-like 12 12 12 p13.31 8823225 8838082 - 7138291 7153069 - 7247146 7261869 - 6480464 19344414;15385675;15358180;14702039;12838346;12477932;8125298;22779921;16344560;19423540;20379614;20406964;20438785 51279 F5GWF3;F5H2Z5;F5H6S5;F5H7C8;H0YF87;H0YFJ9;H0YFL7;H0YGP8;Q9NZP8 ABBA01012193;ABBA01012194;ABBA01012195;AC018653;AC094008;AC233309;AF178985;AK024084;AK222802;AK314299;AMYH01004212;AMYH01004213;BC062428;CH471116;DB113812;NM_016546 AAF44349;AAH62428;AAI56781;BAB14819;BAD96522;EAW88685;EAW88686;NP_057630;Q9NZP8 Hs.631730 5022578;5022588;5022651;5037552 D11S2921;D1S1423;D5S1597E;D8S2279 C1RL1;C1RLP;C1r-LP;CLSPa C1r-like protein;C1r-like serine protease analog protein;OTTHUMP00000238049;OTTHUMP00000238050;OTTHUMP00000238052;complement C1r subcomponent-like protein;complement C1r-like proteinase protein-coding ENSG00000139178 21265 07093 608974 VALIDATED 1348206 C20orf144 chromosome 20 open reading frame 144 20 20 20 q11.22 29003152 29004752 + 31713781 31715381 + 32250092 32251721 + 15489334;12477932;11780052 128864 Q9BQM9 ABBA01019224;AL121906;AMYH01011855;BC032818;BX378327;CH471077;DQ080434;NM_080825 AAH32818;AAZ39562;EAW76310;NP_543015;Q9BQM9 Hs.324104 2160839 AF021113 dJ63M2.6 OTTHUMP00000030658;bcl-2-like protein from testis;bclt;hypothetical protein LOC128864;uncharacterized protein C20orf144 protein-coding ENSG00000149609 16137 12749 VALIDATED 1347173 C20orf141 chromosome 20 open reading frame 141 20 20 20 p13 2860175 2860994 + 2743657 2744476 + 2795633 2796476 + 15489334;12477932;11780052;23218918 128653 B2R5K4;Q9NUB4 ABBA01053798;AK312218;AL035460;AL713708;AMYH01011671;BC014591;BX094374;CH471133;HC006826;HC044737;NM_001256538;NM_080739 AAH14591;BAG35151;CAD28505;CBH19219;CBH30698;EAX10574;NP_001243467;NP_542777;Q9NUB4 Hs.352187 1772400 G09802 MGC26144;TMEM239;dJ860F19.4 OTTHUMP00000030040;hypothetical protein LOC128653;uncharacterized protein C20orf141 protein-coding ENSG00000258713 16134 12748 VALIDATED 1345172 C20orf176 chromosome 20 open reading frame 176 q13.13 140879 AL133230 CAC00619;Q9NQQ3 dJ530I15.3 protein-coding 16169 1348127 C20orf181 chromosome 20 open reading frame 181 140843 Q92884 AL158091;U63828 AAB06956;CAC17643;Q92884;Q9H1S0 Hs.555583 dJ824A14.1 protein-coding 16174 1605130 C1S complement component 1, s subcomponent This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009] 12 12 p13 7038278 7048597 + 7167980 7178336 + 6480464;6907045;7240710 11527969;814163;1249422;19344414;18062908;16344560;16335952;16169853;15489334;14702039;14674770;12788922;12645945;12477932;11390518;11337467;10878362;10775260;10630213;10092586;9973493;9882449;9856483;9794427;9477945;7779774;6604523;6362661;3756141;3521730;3500856;3007145;2834284;2831944;2553984;2537870;2459702;2372546;2141278;2007122;1854725;1533159;20467438;23592783;23650384;23750785;20008834;22855709;19423540;20406964;20438785;20592021;21103663;2387866;22318606 716 B5MCV4;C9IZP8;C9JY52;F5H7T4;F8WCZ6;H0Y5D1;Q9UCV3 AB009076;ABBA01017671;AC006512;AK025309;AK126711;AK290295;AM886411;AMYH01004212;AU100335;BC056903;CD358820;CH471116;DB257339;DB265957;HC250949;HC311138;J04080;M18767;NG_011694;NM_001734;NM_201442 AAA51852;AAA51853;AAH56903;BAA86864;BAF82984;CBJ05772;CBJ21224;EAW88689;EAW88690;NP_001725;NP_958850;P09871 Hs.458355 1725819;1741637;1797336;1847745;2117999;2175397;5022651 C1S_1475;D11S2921;D12S2020;G61997;GDB:181601;RH17587;STS-T93284 FLJ44757 C1 esterase;OTTHUMP00000197019;OTTHUMP00000197021;OTTHUMP00000197022;OTTHUMP00000239854;basic proline-rich peptide IB-1;complement C1s subcomponent;complement component 1 subcomponent s APPROVED protein-coding ENSG00000182326 1247 00397 120580;613783 REVIEWED 1353499 C2 complement component 2 Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009] 6 6 p21.3 32003473 32021427 + 31865562 31913449 + 1600582;1580863;6480464;6907045;7240710 16518403 162484;8621452;6019133;12878586;15199963;19430225;19399715;19259132;19237749;19197355;19180512;19169232;19015224;18987644;18936151;18806297;18806293;18541650;18515590;18493315;18174230;18069935;17576744;17482263;16670774;16335952;15489334;14702039;12823772;12477932;19344414;11222683;19336475;10946292;10946278;10734221;10072631;9670930;9453398;8326124;8299689;8175701;8125298;8120386;6922702;6555044;6199794;6149575;3643061;3546307;3315100;2997031;2949737;2582254;2493504;2091785;1701385;1577763;1531292;1350302;1084023;978135;11341920;22869612;20417301;21665990;20378180;19117936;19423540;19556007;19661236;19696172;19851445;19948975;20157618;20205591;20381870;20385819;20406964;20438785;20523265;20801516;20888482;19913121;20628086;20679960;21105107;20385826;22610944;23060141;22273503;22566634;22705344;21881993;22232432;21764829;23455636;23233260 717 A2ABG0;B3KTX9;B4DQI1;C9JYQ5;E9PDZ0;F2Z306;F2Z3N2;F8WCJ9;H0Y3H6;H0Y868;P06681;Q53HP3;Q5JP69;Q5ST52;Q8N6L6 ABBA01038093;ABBA01038094;ABBA01038095;ABBA01038096;ABBA01038097;ABBA01038098;ABBA01038099;AF019413;AK096258;AK222537;AK222783;AK298311;AK298808;AK300892;AK300930;AK307930;AK312581;AL645922;AL662834;AL662849;AL671762;AL844853;AMYH01016221;AMYH01016222;AMYH01016223;AY349611;BA000025;BC029781;BC043484;BX005143;BX537504;CH471081;CR388219;CR759782;CR759784;CR933857;DC349268;DC362624;L09708;M15082;M15549;M86920;N63977;NG_011730;NM_000063;NM_001145903;NM_001178063;NR_073063;X04481;X77331 AAA51854;AAA59624;AAA59649;AAB67975;AAB97607;AAH29781;AAH43484;AAQ15273;BAB63292;BAD96257;BAD96503;BAG35475;BAG53241;BAG60565;BAG60943;BAG62532;BAG62560;CAA28169;CAA54545;CAD97767;EAX03548;EAX03549;NP_000054;NP_001139375;NP_001171534;P06681 Hs.408903 1657861;1658938;1797338;2106219;2106221;2189751;5022450 C2_3011;D10S275;D6S2896;D6S2973;N3_3_3;RH18075;WI-8686 CO2;DKFZp779M0311 C3/C5 convertase;OTTHUMP00000029277;OTTHUMP00000174692;OTTHUMP00000174694;OTTHUMP00000174695;OTTHUMP00000215942;OTTHUMP00000215945;complement C2;complement component C2 APPROVED protein-coding ENSG00000166278 1248 08939 217000;603075;613927 REVIEWED 1343604 C20orf187 chromosome 20 open reading frame 187 20 20 p12.2 10956401 10958016 + 10956401 10958016 + 11780052;11181995 728434 H0YFP8;Q9UGB4 AL050322;BX281604;CH471133;XM_001131465 CAB65795;EAX10337;Q9UGB4;XP_001131465 Hs.570365 dJ727I10.1 hCG2045828;putative uncharacterized protein C20orf187 protein-coding 16180 1348785 C20orf112 chromosome 20 open reading frame 112 20 20 20 q11.21 27786886 27827327 - 30498330 30534849 - 31030862 31172875 - 6480464 15489334;15342556;15302935;14702039;12477932;11780052;8889548;20520637;17207965;21765475 140688 H0Y778;Q5JYB6;Q5JYC0;Q5JYC2;Q5W149;Q6P0R2;Q96MY1 ABBA01019261;ABBA01019262;ABBA01019263;ABBA01019264;ABBA01019265;ABBA01019266;ABBA01019267;ABBA01019268;AK056286;AK097804;AL034550;AL122043;AL133343;AL834520;AMYH01011842;AMYH01011843;AMYH01011844;AMYH01011845;AMYH01011846;BC023657;BC038088;BC065370;BC065483;BP365900;BQ067609;BX281715;CH471077;CK300322;NM_001256798;NM_080616 AAH23657;AAH65370;AAH65483;ADQ32944;BAB71138;EAW76367;EAW76368;EAW76369;EAW76370;EAW76371;EAW76372;EAW76373;NP_001243727;NP_542183;Q96MY1 Hs.516978;Hs.729596 1334806;1336853;1669928;1680068;1693406;1706136;1774545;1846807;1846809;2189383;5014053 A006D41;AL034520;D1S3693;D20S187;D20S903;G20732;MARC_3403-3404:991937204:1;RH79830;SHGC-80110;STS-AA011330;WI-14399 C20orf113;DKFZp566G1424;dJ1184F4.2;dJ1184F4.4 OTTHUMP00000030594;hypothetical protein LOC140688;uncharacterized protein C20orf112 protein-coding ENSG00000197183 16106 10728 VALIDATED 1602964 C20orf166-AS1 C20orf166 antisense RNA 1 20 20 20 q13.33 57850607 57859104 - 60552199 60559176 - 61141438 61148768 - 14702039;12477932;16344560 253868 Q96NR2 ABBA01012316;AC161429;AK054875;AK056546;AL449263;AL832097;AMYH01012057;AMYH01012058;BC093856;BC111938;CH471077;DA722400;NR_033263 AAH93856;AAI11939;BAB70817;BAG51743;EAW75356;EAW75357;EAW75358;EAW75359;Q96NR2 Hs.337024 2220606 UniSTS:485778 C20orf200;DKFZp313D1938;FLJ30313;MGC138143;NCRNA00335 APPROVED miscrna ENSG00000174403 26393 08083 VALIDATED 1349021 C20orf166 chromosome 20 open reading frame 166 20 20 20 q13.33 57857990 57878307 + 60558105 60578409 + 61147660 61167971 + 15489334;14702039;12477932;11780052;8681137 128826 Q4VX86;Q9H1L0 ABBA01012316;AK056985;AL449263;AMYH01012058;BC110595;CH471077;F35210;NM_178463 AAI10596;ACT64434;ACT64435;EAW75355;NP_848558;Q9H1L0 Hs.86507 1689095 RH91878 FLJ32423;MGC129808;dJ353C17.1 OTTHUMP00000045645;hypothetical protein LOC128826;uncharacterized protein C20orf166 protein-coding ENSG00000174407 16159 12755 VALIDATED 1606148 C20orf196 chromosome 20 open reading frame 196 20 20 20 p12.3 5802650 5916186 + 5679043 5792558 + 5731043 5844558 + 6480464 12477932;21145461;21130836;20360068 149840 Q5TGA6;Q5TGB0;Q8IYI0 ABBA01053889;ABBA01053890;ABBA01053891;ABBA01053892;AK057796;AK292708;AL035249;AL390028;AMYH01011696;BC035800;CH471133;NM_152504 AAH35800;BAB71578;BAF85397;EAX10411;EAX10412;NP_689717;Q8IYI0 Hs.529340 1650829;1752825;1778498;1846759;2119170;2124434;2162797;2170819;2183822;2186302 CHLC.GGAA9H10;D20S1034;D20S805;G09683;RH36229;RH36491;SHGC-106692;SHGC-14511;Z94356;Z94590 FLJ25067;RP4-784N16.1 OTTHUMP00000030204;OTTHUMP00000030207;hypothetical protein LOC149840;uncharacterized protein C20orf196 protein-coding ENSG00000171984 26318 08681 PREDICTED 1601971 C20orf195 chromosome 20 open reading frame 195 20 20 20 q13.33 58864733 58868396 + 61654817 61658480 + 62184373 62188036 + 6480464 16189514;15489334;12477932;11780052 79025 Q9BVV2 ABBA01021403;AK125168;AL121829;AMYH01012083;BC000912;CH471077;NM_024059 AAH00912;EAW75258;NP_076964;Q9BVV2 Hs.197755 MGC5356 OTTHUMP00000031566;hypothetical protein LOC79025;uncharacterized protein C20orf195 protein-coding ENSG00000125531 28764 14682 PREDICTED 1351674 C20orf173 chromosome 20 open reading frame 173 20 20 20 q11.22 30857159 30866071 - 33578213 33580862 - 34108569 34117481 - 16344560;15489334;14702039;12477932;11780052;11181995 140873 Q4VXR9;Q4VXS0;Q96LM9 ABBA01019159;AK058089;AK310337;AL121586;AMYH01011874;BC112060;BC112062;CH471077;DB057743;NM_001145350;NR_026933 AAI12061;AAI12063;BAB71659;CAO03347;EAW76201;EAW76202;EAW76203;NP_001138822;Q96LM9 Hs.158680 1697156;1798522;1800388;1801014;1801056;1812004;1819962;1974376;1974378;1974380;1974382;1974384;1974386;1974388;1974390;1974392;1974394;1974396;1974398;1974400;1974402;1974404;1974406;1974408;1974410;1974412;1974414;1974416;1974418;1974420;1974422;1974424;1974426;1974428;1974430;1974432;1974434;1974436;1974438;1974440;1974442;1974444;1974446;1974448;1974450;1974452;1974454;1974456;1974458;1974460;1974462;1974464;2215386;2215388;2215390;2215392;2215394;2215396 ECD00099;ECD01054;ECD01373;ECD01396;ECD07007;ECD11052;REN58074;REN58075;REN58076;REN58077;REN58078;REN58079;REN58080;REN58081;REN58082;REN58083;REN58084;REN58085;REN58086;REN58087;REN58088;REN58089;REN58090;REN58091;REN58092;REN58093;REN58094;REN58095;REN58096;REN58097;REN58098;REN58099;REN58100;REN58101;REN58102;REN58103;REN58104;REN58105;REN58106;REN58107;REN58108;REN58109;REN58110;REN58111;REN58112;REN58113;REN58114;REN58115;REN58116;REN58117;REN58118;RH102065;stSG636684;stSG636685;stSG636686;stSG636687;stSG636688;stSG636689 FLJ25360;MGC138265;MGC138267;dJ477O4.4 OTTHUMP00000196097;hypothetical protein LOC140873;uncharacterized protein C20orf173 protein-coding ENSG00000125975 16166 12756 PREDICTED 1604727 C20orf201 chromosome 20 open reading frame 201 20 20 20 q13.33 59400922 59401901 - 62185177 62186156 - 62714733 62715712 - 12477932 198437 Q8TD35 ABBA01021440;AL590548;AMYH01012098;BC036837;CH471077;NM_001007125 AAH36837;EAW75164;EAW75165;NP_001007126;Q8TD35 Hs.570316 OTTHUMP00000031628;bA299N6.3;hypothetical protein LOC198437;uncharacterized protein C20orf201 protein-coding ENSG00000171695 33718 17317 PREDICTED 1349038 C20orf194 chromosome 20 open reading frame 194 This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011] 20 20 20 p13 3291918 3450250 - 3177948 3336255 - 3229948 3388309 - 6480464 15489334;15146197;14702039;12477932;11780052;11549316;11181995;20379614;21683323;21703177 25943 E7EWP7;Q0IIP3;Q5TEA3 ABBA01053818;ABBA01053819;ABBA01053820;ABBA01053821;ABBA01053822;ABBA01053823;AI214589;AK023919;AK226100;AK303375;AK310540;AL109976;AL110249;AL117334;AMYH01011673;AU311821;BC041916;BC064352;BC080528;BC106086;BC122529;BX424937;CH471133;CN285135;DB504338;NG_031974;NM_001009984 AAH64352;AAH80528;AAI06087;AAI22530;BAG64431;CAB53697;EAX10533;EAX10534;NP_001009984;Q5TEA3 Hs.516853 1336545;1643856;1662340;1668508;1669793;1679824;1722301;1759153;1784366;2149207;2165682;2171558 A002R43;D20S193;D20S596E;G06884;G60065;IB607;RH18304;RH98248;SHGC-144481;SHGC-151132;WI-18442;Z94365 DKFZp434N061;MGC117480;MGC141683 OTTHUMP00000030101;hypothetical protein LOC25943;uncharacterized protein C20orf194 APPROVED protein-coding ENSG00000088854 17721 614146 VALIDATED 1348541 C20orf57 chromosome 20 open reading frame 57 83747 AK000652;AL160175 CAI12818;Q5QP66 Hs.434108 FLJ20645;bA243J16.5 protein-coding 16190 1351532 C20orf61 chromosome 20 open reading frame 61 19204726 140833 AL080274 CAB88097;Q9NU29 1677682;1851853;2121465 AL031203;RH98391;Z94306 dJ1012F16.1 protein-coding 16194 1348821 C20orf62 chromosome 20 open reading frame 62 140834 Q4KN68 16195 1602798 C20orf202 chromosome 20 open reading frame 202 20 20 20 p13 1280428 1285247 + 1132104 1136923 + 1184098 1188918 + 14702039;12477932 400831 A1L168 ABBA01053766;AK092524;AL031665;AMYH01011663;BC127730;BC127731;BC141955;BC141956;BC150532;CR746175;NM_001009612 A1L168;AAI27731;AAI27732;NP_001009612 Hs.148503 FLJ35205 OTTHUMP00000159741;hypothetical protein LOC400831;uncharacterized protein C20orf202 APPROVED protein-coding ENSG00000215595 37254 17387 VALIDATED 1347902 C20orf66 chromosome 20 open reading frame 66 20 q13.32 57141393 57163299 - 343629 AL121919;AL136532;CH471077;XM_001716673;XM_001723936;XM_293121 EAW75440;P0C7V3;XP_001716725;XP_001723988;XP_293121 bA379F14.2 protein-coding 16199 1347015 C20orf78 chromosome 20 open reading frame 78 20 p11.23 18790372 18810839 - 11780052 100128496 Q9BR46 ABBA01054056;AL035563;AMYH01011745;AW118618;BX112808;CH471133;CR738909;NM_001242671 EAX10223;NP_001229600;Q9BR46 Hs.664484 1688829;1697104;1703310 RH102036;RH92791;SHGC-68546 dJ1068E13.1 putative uncharacterized protein C20orf78;putative uncharacterized protein C20orf78; uncharacterized protein LOC100128496;uncharacterized protein LOC100128496 protein-coding ENSG00000149443 16210 VALIDATED 1606918 C20orf197 chromosome 20 open reading frame 197 20 20 20 q13.33 55371626 55388652 + 58064375 58081403 + 58630980 58648008 + 15489334;14702039;12975309;12477932;11780052 284756 Q6UX30;Q8N268 ABBA01005955;AK091179;AL132822;AMYH01012030;AY358539;BC101349;BC101350;BC101351;CH471077;NM_173644 AAI01350;AAI01351;AAI01352;AAQ88903;BAC03602;EAW75416;NP_775915;Q8N268 Hs.335319 FLJ33860;MGC120496;RP5-1017F8.1 OTTHUMP00000031440;hypothetical protein LOC284756;uncharacterized protein C20orf197 protein-coding ENSG00000176659 26601 08749 PREDICTED 1352255 C20orf89 chromosome 20 open reading frame 89 140882 AL157414 16220 1343671 C20orf80 chromosome 20 open reading frame 80 14702039 91222 F5H5R5;H0YEZ2;Q96ND1;Q9BZ00;Q9BZ01 AK055615;AL441988 BAB70972;CAC27358;Q96ND1;Q9BZ00;Q9BZ01 Hs.653099 bA348I14.2 protein-coding 15792 1352058 C21orf104 chromosome 21 open reading frame 104 54748 Q9UJ94 AJ011409 CAB56458;Q9UJ94 Hs.548784 1821612;1896116;1896118 ECD11892;REN18844;REN18845 miscrna 17215 1343792 C21orf105 chromosome 21 open reading frame 105 6480464 90625 XM_033004 2170961;2170963 A005Z22;G20624 17216 1342765 C21orf112 chromosome 21 open reading frame 112 378824 BF694301 Hs.125113 PRED71 protein-coding 19724 1345871 C21orf113 chromosome 21 open reading frame 113 378825 P0C852 AI015287 19725 1349466 C21orf114 chromosome 21 open reading frame 114 378826 AF304443 19726 1352954 C21orf115 chromosome 21 open reading frame 115 378827 19746 1353985 C21orf116 chromosome 21 open reading frame 116 378820 AF130090 AAG35516;Q9H386 PRED82 protein-coding 17285 1342696 C21orf118 chromosome 21 open reading frame 118 378829 AF304442 23127 2303842 C20orf203 chromosome 20 open reading frame 203 20 20 20 q11.21 27975409 27995749 - 30701895 30725404 - 31219427 31239783 - 16344560;14702039;12477932;8889548;20376170 284805 Q8NBC4 ABBA01019260;AK091025;AMYH01011848;BC105014;BC105042;BM662904;BU736724;CH471077;CR383701;DA522519;DB134998;DB160076;FO393400;GU931819;GU931820;NM_182584 ADF32072;ADF32073;BAC03569;EAW76366;NP_872390;Q8NBC4 Hs.353262 1667528;5493305 UniSTS:485666;WI-14823 FLJ33706 alugen;uncharacterized protein C20orf203 APPROVED protein-coding 26592 08164 VALIDATED 1347446 C21orf12 chromosome 21 open reading frame 12 54096 1254 1347663 C21orf124 chromosome 21 open reading frame 124 85006 BC021550;NM_032920 19728 1317125 C20orf24 chromosome 20 open reading frame 24 20 20 20 q11.23 31941205 31948034 + 34667581 34674374 + 35234137 35240960 + 6480464 17353931;15489334;15178406;14759258;12477932;11780052;8824393;20877624;21890473;21906983;22190034 55969 Q9BUV8 ABBA01006582;AF112213;AF274936;AF274948;AL050318;AMYH01011882;BC001871;BC004446;BG395753;BI223439;BQ086248;BU174619;BU189639;BU194101;BU848918;CD370956;CH471077;NM_001199534;NM_018840;NM_199483;NR_026562;S83364 AAB50849;AAF17201;AAH01871;AAH04446;AAK07515;AAK07525;EAW76120;EAW76121;EAW76122;EAW76123;EAW76124;EAW76125;NP_001186463;NP_061328;NP_955777;Q9BUV8 Hs.584985 1662759;1671904;2151711 D20S1010;HUM000AA21;WI-19258 PNAS-11;RIP5 OTTHUMP00000030851;OTTHUMP00000030853;OTTHUMP00000030854;RAB5-interacting protein;uncharacterized protein C20orf24 protein-coding ENSG00000101084 15870 12761 VALIDATED 1343597 C21orf15 chromosome 21 open reading frame 15 21 21 q11 394568 399795 + 15215454 15220685 - 11707072;10830953 54094 ABBA01057063;AL109748;AMYH01012135;AY040090;BX648100;CA415229;NR_026755 AAK74137 Hs.580910 5112333 RH103540 miscrna ENSG00000228314 1257 PREDICTED 1348175 C21orf19 chromosome 21 open reading frame 19 21 21 21 q22.13 22701316 22703084 + 36424322 36426086 + 37502452 37504216 + 11707072;10830953 54092 AP000689;AP001725;NG_000928 pseudo 1259 1323021 C20orf26 chromosome 20 open reading frame 26 20 20 20 p11.23 20107179 20415417 + 19981196 20289346 + 20033158 20341346 + 6480464 18029348;19240061;15489334;14702039;12477932;11780052;20379614 26074 C9J610;C9JA66;C9JHE8;C9JMV0;F8W6E2;F8WDF5;H0Y3Y7;Q9H128 ABBA01054080;ABBA01054081;ABBA01054082;ABBA01054083;ABBA01054084;ABBA01054085;ABBA01054086;ABBA01054087;ABBA01054088;AK057364;AK304174;AK307817;AL035454;AL049648;AL117439;AL121721;AL158849;AL161658;AMYH01011760;AMYH01011761;BC015959;BC028708;BC031674;CH471133;NM_001167816;NM_015585 AAH28708;AAH31674;BAB71452;BAH14126;CAB55925;EAX10202;EAX10203;EAX10204;NP_001161288;NP_056400;Q8NHU2 Hs.729168 1643668;1644701;1652420;1654834;1671866;1711252;1767504;2121760;2135787;2138745 RH65785;RH69393;SHGC-37392;SHGC-84987;STS-N33550;STS-N35603;Z94394;Z94527;Z94594;Z94670 DKFZp434K156;dJ1002M8.3;dJ1178H5.4 OTTHUMP00000030381;OTTHUMP00000030383;OTTHUMP00000214505;hypothetical protein LOC26074;uncharacterized protein C20orf26 protein-coding ENSG00000089101 15872 16647 VALIDATED 1323352 C20orf27 chromosome 20 open reading frame 27 20 20 20 p13 3796043 3810314 - 3682158 3696452 - 3734146 3749035 - 6480464 15489334;14702039;12665801;12477932;11780052;8125298;16189514;19913121;20628086;17549794;20811636;21139048;16344560 54976 H7BYU9;Q9GZN8 ABBA01053828;ABBA01053829;AK000557;AK024220;AK097645;AK124341;AK125202;AK225109;AK290955;AK308520;AL109804;AMYH01011679;BC010873;BC012196;BC024036;BC069204;BF978883;BG474804;CH471133;DB317576;NM_001039140;NM_001258429;NM_001258430;NR_047675 AAH12196;AAH24036;ADZ15963;BAA91252;BAB14854;BAF83644;BAG53501;EAX10508;EAX10510;EAX10511;NP_001034229;NP_001245358;NP_001245359;Q9GZN8 Hs.274422 1784344;2128238 SHGC-106101;WI-18677 FLJ20550 OTTHUMP00000030113;OTTHUMP00000030114;OTTHUMP00000030116;OTTHUMP00000030117;UPF0687 protein C20orf27;hypothetical protein LOC54976 protein-coding ENSG00000101220 15873 16648 VALIDATED 1351394 C21orf30 chromosome 21 open reading frame 30 21 q22.3 44704251 44704985 + 6480464 16780588;10830953 54083 Q9UFM2 AL117578;AP001065;CH471079;XM_001720003;XM_001722905;XM_001726311 CAB56001;EAX09424;Q9UFM2;XP_001720055;XP_001722957;XP_001726363 Hs.542533 DKFZP434C128 protein-coding 1270 1346202 C21orf32 chromosome 21 open reading frame 32 q22.3 10830953;15782160 54081 AP001753 BAA95555;P57056 putative gene with similarities to yeast gene YDL038c;putative uncharacterized protein C21orf32 protein-coding 1272 1342910 C20orf85 chromosome 20 open reading frame 85 20 20 20 q13.32 53466441 53476642 + 56159389 56169592 + 56725983 56736186 + 17304513;15489334;12477932;11780052;8889548;23251661 128602 Q9H1P6 ABBA01052938;AL354776;AMYH01012016;BC035405;BU676204;BX093883;CH471077;NM_178456 AAH35405;EAW75503;NP_848551;Q9H1P6 Hs.43977 LLC1;bA196N14.1 OTTHUMP00000031384;hypothetical protein LOC128602;low in lung cancer 1;uncharacterized protein C20orf85 protein-coding ENSG00000124237 16216 12787 VALIDATED 1346131 C20orf96 chromosome 20 open reading frame 96 20 20 20 p13 346365 366233 - 199524 219390 - 251504 271419 - 14702039;12477932;11780052;16344560;17207965;21906983 140680 B7ZML9;F5GZA9;Q5JYC3;Q9NUD7 AA921838;ABBA01053744;ABBA01053745;AK091924;AK097394;AK302223;AK304526;AL034548;AMYH01011650;AMYH01011651;AMYH01011652;BC051762;BC134417;BC137450;BC144648;BC144649;BX640715;CH471133;DB226405;DB320878;EL734555;NM_080571;NM_153269 AAI34418;AAI37451;AAI44650;BAC03772;BAC05033;BAH13653;BAH14207;CAE45834;EAX10681;EAX10682;NP_542138;NP_695001;Q9NUD7 Hs.348112 FLJ40075;dJ1103G7.2 OTTHUMP00000029908;OTTHUMP00000029909;hypothetical protein LOC140680;uncharacterized protein C20orf96 protein-coding ENSG00000196476 16227 12790 VALIDATED 1345634 C21orf36 chromosome 21 open reading frame 36 54077 1276 1345304 C21orf37 chromosome 21 open reading frame 37 54076 A6NIU2 NM_001005521 1681861 RH46019 1277 1347138 C21orf40 chromosome 21 open reading frame 40 54074 1281 1353237 C21orf47 chromosome 21 open reading frame 47 q22.11 10830953 54068 AI282569 protein-coding 1288 1346218 C21orf53 chromosome 21 open reading frame 53 54063 1295 1349584 C21orf54 chromosome 21 open reading frame 54 q22.11 10830953 339629 A6NM66 AA934973 A6NM66 Hs.125234 1808730;1823048;1826770;1839716;1841808;1842190;1845260;2026248;2026250;2026252;2026254;2026256;2026258;2026260;2026262;2026264;2026266;2026268;2026270;2026272;2026274;2026276;2026278;2026280;2026282;2026284;2026286;2026288;2026290;2026292;2026294;2026296;2026298;2026300;2026302;2026304;2026306;2026308;2026310;2100878;2100880;2100882;2100884;2100886 ECD05347;ECD12612;ECD14499;ECD21041;ECD22103;ECD22298;ECD23847;REN84124;REN84125;REN84126;REN84127;REN84128;REN84129;REN84130;REN84131;REN84132;REN84133;REN84134;REN84135;REN84136;REN84137;REN84138;REN84139;REN84140;REN84141;REN84142;REN84143;REN84144;REN84145;REN84146;REN84147;REN84148;REN84149;REN84150;REN84151;REN84152;REN84153;REN84154;REN84155;stSG606970;stSG606971;stSG606972;stSG606973;stSG606974 protein-coding 1296 1350828 C21orf119 chromosome 21 open reading frame 119 21 21 21 q22.11 18949069 18949896 + 32687326 32688140 + 33765442 33766269 + 6480464 15489334;12477932 84996 Q96HZ7 ABBA01057313;AI369236;AK026376;AMYH01012199;AP000269;BC007928;CH471079;NR_026845 EAX09875;Q96HZ7 Hs.58149 1799574;1818284;1819006;1853658;2019704;2019706;2019708;2019710;2019712;2019714;2019716;2019718;2019720;2019722;2019724;2019726;2019728;2019730;2099772;2099774 ECD00639;ECD10199;ECD10568;REN80800;REN80801;REN80802;REN80803;REN80804;REN80805;REN80806;REN80807;REN80808;REN80809;REN80810;REN80811;REN80812;REN80813;SHGC-57897;stSG606361;stSG606362 MGC14136;PRED84 miscrna ENSG00000256073 23128 12792 VALIDATED 1353705 C21orf128 chromosome 21 open reading frame 128 21 21 21 q22.3 28669792 28676192 - 42395313 42401707 - 43522244 43528644 - 15489334;14702039;12477932;10830953 150147 Q8N2C9 ABBA01014177;AK090790;AMYH01012267;AP001621;BC063412;CH471079;NR_027243 BAC03519;EAX09577;Q8N2C9 Hs.558646 1653720;1660667 SHGC-52060;WI-18470 FLJ33471 miscrna ENSG00000184385 23821 10740 VALIDATED 1347551 C21orf64 chromosome 21 open reading frame 64 59270 13560 1351432 C21orf58 chromosome 21 open reading frame 58 21 21 21 q22.3 32834819 32857559 - 46545475 46568213 - 47721047 47743785 - 6480464 14702039;12477932;11707072;10830953;7757816;18624398 54058 C9JH41;H0YCB6;H7C1T9;P58505;Q0VAL8;Q8N7N9 ABBA01021762;ABBA01021763;AK056387;AK096641;AK098098;AMYH01012337;AP000471;AY039243;AY039244;BC026042;BC028934;BC044223;BC098408;BC121007;BC121008;BM475055;CH471079;NM_058180 AAI21008;AAI21009;AAK72408;AAK72409;BAC05232;BAG51693;EAX09282;EAX09283;EAX09284;EAX09285;EAX09286;EAX09287;NP_478060;P58505 Hs.236572 1735014;5016781;5022578 D1S1423;D21S1714E;SHGC-67307 OTTHUMP00000115789;OTTHUMP00000115793;OTTHUMP00000115795;hypothetical protein LOC54058;uncharacterized protein C21orf58 protein-coding ENSG00000160298 1300 10755 VALIDATED 1320014 C21orf2 chromosome 21 open reading frame 2 Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012] 21 21 21 q22.3 30854055 30864461 - 44573255 44583574 - 45748827 45759285 - 6480464 16341674;15489334;15068244;12477932;10830953;9465297;17207965;12624744;9325172;21906983 755 G5E952;O43822 AB209578;ABBA01074163;AMYH01012292;AP001062;AP001754;BC031300;BC072012;BM761336;CH471079;NG_032952;NM_001271440;NM_001271441;NM_001271442;NM_004928;U84569;U84570;Y11392;Z93322 AAB46590;AAB46591;AAH31300;AAH72012;ADQ32159;BAA95562;BAD92815;CAA72202;CAB07532;EAX09431;EAX09432;EAX09433;EAX09434;EAX09435;NP_001258369;NP_001258370;NP_001258371;NP_004919;O43822 Hs.517331 1644669;1681712;1730873;1773776;1790651;1793954;2144290 A009B16;D21S400;PMC310701P4;RH92553;SHGC-57478;STS-AA022689;STS_CEB281 A2;YF5;YF5/A2 OTTHUMP00000109511;OTTHUMP00000109512;OTTHUMP00000109513;hypothetical protein LOC755;nuclear encoded mitochondrial protein C21orf2;nuclear encoded mitochondrial protein C21orf2; protein C21orf2;nuclear encoded mitochondrial protein C21orf2; uncharacterized protein C21orf2;nuclear encoded mitochondrial protein, cDNA A2-YF5;uncharacterized protein C21orf2 APPROVED protein-coding ENSG00000160226 1260 603191 REVIEWED 1347089 C21orf49 chromosome 21 open reading frame 49 21 21 21 q22.11 19328068 19353675 + 33066344 33091825 + 34144411 34170017 + 16344560;14702039;12477932;10830953;7782076 54067 F2Z3P8;F8WB83;F8WEE1;Q17RA5 ABBA01057320;ABBA01057321;AK096601;AMYH01012203;AP000280;BC034794;BC117397;BC117399;CH471079;DA321673;DA776905;NR_024622;NR_024623 EAX09855;Q17RA5 Hs.54725 1800968;1804190;1804390;1804552;1806864;1809768;1814340;1820272;1826312;1826678;1827304;1827390;1827464;1832798;1834974;1836520;1840318;1858580;2022812;2022814;2022816;2022818;2022820;2022822;2022824;2022826;2022828;2022830;2022832;2022834;2022836;2022838;2022840;2022842;2022844;2022846;2022848;2022850;2022852;2022854;2022856;2022858;2022860;2022862;2022864;2022866;2022868;2022870;2022872;2022874;2022876;2022878;2022880;2022882;2022884;2022886;2022888;2022890;2022892;2022894;2022896;2022898;2022900;2022902;2022904;2022906;2022908;2022910;2022912;2022914;2022916;2022918;2022920;2022922;2022924;2022926;2022928;2022930;2022932;2022934;2022936;2022938;2022940;2022942;2022944;2022946;2022948;2022950;2022952;2022954;2022956;2022958;2022960;2022962;2022964;2022966;2022968;2022970;2022972;2022974;2022976;2022978;2022980;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2100296;2100298;2100300;2100302;2100304;2100306;2100308;2100310;2100312;2100314;2100316;2100318;2100326;2100328;2100330;2100332;2112684;5109281 D1S1425;D3S4402;ECD01349;ECD03015;ECD03119;ECD03205;ECD04397;ECD05876;ECD08199;ECD11210;ECD14269;ECD14453;ECD14767;ECD14811;ECD14848;ECD17540;ECD18638;ECD19423;ECD21344;ECD24491;REN82404;REN82405;REN82406;REN82407;REN82408;REN82409;REN82410;REN82411;REN82412;REN82413;REN82414;REN82415;REN82416;REN82417;REN82418;REN82419;REN82420;REN82421;REN82422;REN82423;REN82424;REN82425;REN82426;REN82427;REN82428;REN82429;REN82430;REN82431;REN82432;REN82433;REN82434;REN82435;REN82436;REN82437;REN82438;REN82439;REN82440;REN82441;REN82442;REN82443;REN82444;REN82445;REN82446;REN82447;REN82448;REN82449;REN82450;REN82451;REN82452;REN82453;REN82454;REN82455;REN82456;REN82457;REN82458;REN82459;REN82460;REN82461;REN82462;REN82463;REN82464;REN82465;REN82466;REN82467;REN82468;REN82469;REN82470;REN82471;REN82472;REN82473;REN82474;REN82475;REN82476;REN82477;REN82478;REN82479;REN82480;REN82481;REN82482;REN82483;REN82484;REN82485;REN82486;REN82487;REN82488;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;stSG606659;stSG606660;stSG606661;stSG606662;stSG606663;stSG606664;stSG606665;stSG606666;stSG606667;stSG606668;stSG606669;stSG606670;stSG606674;stSG606675;stSG606676;stSG606677 miscrna 1290 10750 VALIDATED 1342798 C21orf72 chromosome 21 open reading frame 72 282568 16026 1354052 C21orf79 chromosome 21 open reading frame 79 282570 16340 1347302 C21orf77 chromosome 21 open reading frame 77 21 32869022 32870473 - 55264 AK001794;NM_018277 16080 1343736 C21orf62 chromosome 21 open reading frame 62 21 21 21 q22.11 19346641 19369711 - 33084855 33107876 - 34162984 34186053 - 6480464 17567994;15342556;15146197;12477932;12036298;10773462;20494980 56245 H7BYF8;Q9NYP8 ABBA01057320;ABBA01057321;AC203640;AF231922;AI651610;AK290983;AMYH01012203;AMYH01012204;AP000280;BC004959;BC069689;BC069709;BC069766;BC069779;BE466137;BM512397;BP214434;BU789528;CH471079;CN428551;DQ656042;NM_001162495;NM_001162496;NM_019596 AAF72946;AAI72318;BAF83672;EAX09853;EAX09854;NP_001155967;NP_001155968;NP_062542;Q9NYP8 Hs.517235 1803052;1804190;1804390;1804552;1814340;1815080;1816370;1816452;1816978;1819112;1825664;1826154;1827304;1827390;1827970;1829764;1830526;1834394;1836520;1838144;1838580;1838924;1839456;1840318;1858580;2022982;2022984;2022986;2022988;2022990;2022992;2022994;2022996;2022998;2023000;2023002;2023004;2023006;2023008;2023010;2023012;2023014;2023016;2023018;2023020;2023022;2023024;2023026;2023028;2023030;2023032;2023034;2023036;2023038;2023040;2023042;2023044;2023046;2023048;2023050;2023052;2023054;2023056;2023058;2023060;2023062;2023064;2023066;2023068;2023070;2023072;2023074;2023076;2023078;2023080;2023082;2023084;2023086;2023088;2023090;2023092;2023094;2023096;2023098;2023100;2023102;2023104;2023106;2023108;2023110;2023112;2023114;2023116;2023118;2023120;2023122;2023124;2023126;2023128;2023130;2023132;2023134;2023136;2023138;2023140;2023142;2023144;2023146;2023148;2023150;2023152;2023154;2023156;2023158;2023160;2023162;2023164;2023166;2023168;2023170;2023172;2023174;2023176;2023178;2023180;2023182;2023184;2023186;2023188;2023190;2023192;2023194;2023196;2023198;2023200;2100320;2100322;2100324;2100326;2100328;2100330;2100334;2100336;2100338;2100340;2100342;2100344;2100346;2100348;2100350;2100352;2100354;2100356;2100358;2100360;2100362;2100364;5015861;5015881;5015961;5021228;5022578;5037552;7185938 D10S16;D15S1477;D1S1423;D8S2279;ECD02417;ECD03015;ECD03119;ECD03205;ECD08199;ECD08572;ECD09227;ECD09268;ECD09538;ECD10622;ECD13940;ECD14187;ECD14767;ECD14811;ECD15108;ECD16014;ECD16398;ECD18345;ECD19423;ECD20244;ECD20464;ECD20641;ECD20910;ECD21344;ECD24491;GDB:312794;GDB:335751;REN82489;REN82490;REN82491;REN82492;REN82493;REN82494;REN82495;REN82496;REN82497;REN82498;REN82499;REN82500;REN82501;REN82502;REN82503;REN82504;REN82505;REN82506;REN82507;REN82508;REN82509;REN82510;REN82511;REN82512;REN82513;REN82514;REN82515;REN82516;REN82517;REN82518;REN82519;REN82520;REN82521;REN82522;REN82523;REN82524;REN82525;REN82526;REN82527;REN82528;REN82529;REN82530;REN82531;REN82532;REN82533;REN82534;REN82535;REN82536;REN82537;REN82538;REN82539;REN82540;REN82541;REN82542;REN82543;REN82544;REN82545;REN82546;REN82547;REN82548;REN82549;REN82550;REN82551;REN82552;REN82553;REN82554;REN82555;REN82556;REN82557;REN82558;REN82559;REN82560;REN82561;REN82562;REN82563;REN82564;REN82565;REN82566;REN82567;REN82568;REN82569;REN82570;REN82571;REN82572;REN82573;REN82574;REN82575;REN82576;REN82577;REN82578;REN82579;REN82580;REN82581;REN82582;REN82583;REN82584;REN82585;REN82586;REN82587;REN82588;REN82589;REN82590;REN82591;REN82592;REN82593;REN82594;REN82595;REN82596;REN82597;REN82598;stSG606671;stSG606672;stSG606673;stSG606674;stSG606675;stSG606676;stSG606678;stSG606679;stSG606680;stSG606681;stSG606682;stSG606683;stSG606684;stSG606685;stSG606686;stSG606687;stSG606688;stSG606689;stSG606690;stSG606691;stSG606692;stSG606693 B37;C21orf120;PRED81 OTTHUMP00000216389;OTTHUMP00000216390;OTTHUMP00000216391;hypothetical protein LOC56245;uncharacterized protein C21orf62 protein-coding 1305 10759 VALIDATED 1348638 C21orf86 chromosome 21 open reading frame 86 21 45537947 45541697 - 6480464 12036297 257103 P59089 AF426264;NM_153454 16420 1343023 C21orf33 chromosome 21 open reading frame 33 This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 21 21 21 q22.3 30659152 30671262 + 44377922 44390033 + 45553494 45565605 + 6480464 15489334;15082224;12477932;10830953;9205129;9179495;9150728;8975701;8889549;8753807;1286669;15342556;16169070;2290832;20877624;21832049;21139048;21890473;20301552;21628590 8209 F2Z2Q0;H7BYH1;H7C1F6;H7C2G3;P78474 AA045757;AB001517;ABBA01074152;AMYH01012287;AP001055;AP001753;BC002370;BC003587;BP283346;CH471079;D86060;D86061;D86062;NG_021281;NM_004649;NM_198155;U53003;U53007;Y07572 AAC50937;AAC50938;AAH02370;AAH03587;ADZ15894;BAA12984;BAA12985;BAA20888;BAA21138;BAA21139;BAA95554;CAA68857;EAX09454;EAX09455;EAX09456;NP_004640;NP_937798;P30042 Hs.413482 1646362;1682954;1793950;2128317;2131386;2132587;2160690 D21S1851;PMC310701P2;RH68310;RH75349;SHGC-64268;SHGC-87686;SHGC-87690 D21S2048E;ES1;GT335;HES1;KNP-I;KNPH;KNPI ES1 protein homolog, mitochondrial;Keio novel protein I;OTTHUMP00000109519;OTTHUMP00000109520;OTTHUMP00000109521;OTTHUMP00000109522;OTTHUMP00000174938;human HES1 protein, homolog to E.coli and zebrafish ES1 protein APPROVED protein-coding ENSG00000160221 1273 09044 601659 REVIEWED 1351562 C21orf89 chromosome 21 open reading frame 89 21 q22.3 45502890 45502991 + 12036297 114042 P59042 AF426268 AAM53524;P59042 Hs.653520 protein-coding 16425 1315861 C21orf59 chromosome 21 open reading frame 59 21 21 21 q22.1 19157614 19168548 - 32895966 32906537 - 33973984 33984918 - 6480464 15489334;14702039;16780588;17567994;15592455;12477932;8125298;21832049;17207965;17370265;21900206;19471022;21139048;21906983 56683 C9J818;C9JX57;D3DSE6;F5GXV2;H7C2R6;H7C3D9;P57076;Q9NX33 ABBA01057320;AF282851;AK000474;AK055328;AK094456;AK097566;AK098577;AK223318;AK225697;AK300970;AMYH01012202;AP000275;BC000709;CH471079;DQ655907;DQ655908;DQ656039;FJ649644;NM_021254;NR_036552 AAG00496;AAH00709;ACX50615;ADQ31713;BAA91189;BAB70903;BAC04359;BAD97038;BAG62593;EAX09865;EAX09866;EAX09867;EAX09868;NP_067077;P57076 Hs.5811 1666736;1776708;1778530;1808598;1809682;1810472;1810474;1811526;1814042;1814338;1816536;1829542;1830474;1835940;1843966;2021408;2021410;2021412;2021414;2021416;2021418;2021420;2021422;2021424;2021426;2021428;2021430;2021432;2021434;2021436;2021438;2021440;2021442;2021444;2021446;2021448;2021450;2021452;2021454;2021456;2021458;2021460;2021462;2021464;2021466;2021468;2021470;2021472;2021474;2021476;2021478;2021480;2021482;2021484;2021486;2021488;2021490;2021492;2021494;2021496;2021498;2021500;2021502;2021504;2021506;2021508;2021510;2021512;2021514;2021516;2021518;2021520;2021522;2100040;2100042;2100044;2100046;2100048;2100050;2100052;2100054;2100056;2100058;2177626;2184240;2185229 D21S1860;ECD05281;ECD05833;ECD06229;ECD06230;ECD06763;ECD08048;ECD08198;ECD09310;ECD15902;ECD16371;ECD19131;ECD23195;REN81693;REN81694;REN81695;REN81696;REN81697;REN81698;REN81699;REN81700;REN81701;REN81702;REN81703;REN81704;REN81705;REN81706;REN81707;REN81708;REN81709;REN81710;REN81711;REN81712;REN81713;REN81714;REN81715;REN81716;REN81717;REN81718;REN81719;REN81720;REN81721;REN81722;REN81723;REN81724;REN81725;REN81726;REN81727;REN81728;REN81729;REN81730;REN81731;REN81732;REN81733;REN81734;REN81735;REN81736;REN81737;REN81738;REN81739;REN81740;REN81741;REN81742;REN81743;REN81744;REN81745;REN81746;REN81747;REN81748;REN81749;REN81750;SHGC-23990;SHGC-52132;SHGC-87601;SHGC-87602;SHGC-87603;stSG606525;stSG606526;stSG606527;stSG606528;stSG606529;stSG606530;stSG606531;stSG606532;stSG606533;stSG606534 C21orf48;FLJ20467;FLJ37137;FLJ40247 OTTHUMP00000067400;OTTHUMP00000067401;OTTHUMP00000107731;OTTHUMP00000174371;hypothetical protein LOC56683;prostate cancer upregulated protein 1;uncharacterized protein C21orf59 protein-coding ENSG00000159079 1301 10756 VALIDATED 4140075 C21orf91-OT1 C21orf91 overlapping transcript 1 (non-protein coding) 21 q21.1 19149721 19164826 - 12036297 246312 ABBA01057126;AI003918;AI201304;AL109761;AMYH01012150;AW469557;AY063452;AY063453;BX088960;BX099338;CR745563;NR_038870;NR_038871 Hs.473425;Hs.624361 D21S2089E;NCRNA00285 APPROVED miscrna ENSG00000240770 16729 VALIDATED 1344304 C21orf81 chromosome 21 open reading frame 81 21 21 q11.2 14198678 14274636 - 15316090 15352765 - 6480464 12477932;12036297 391267 AF426257;AP001466;AP001634;BC036580;BC043199;BC063278;NR_027270 AAM53513;Q8NFU9 Hs.364456 MGC44241 pseudo 16413 VALIDATED 1346389 C22orf12 chromosome 22 open reading frame 12 66034 AB050770 14238 1347523 C21orf97 chromosome 21 open reading frame 97 AK024977 16624 1342876 C21orf69 chromosome 21 open reading frame 69 21 q22.3 45177157 45179316 - 16780588;15489334;12477932;11707072 84537 AL844908;AY035381;BC101235;BC101236;BC101237;BC101238;NM_058189 AAI01236;AAI01237;AAI01238;AAI01239;AAK60445;NP_478069;P58556;Q495D5 Hs.534504 MGC120186;MGC120187;MGC120189;PRED54 protein-coding 15709 10763 1602005 C22orf24 chromosome 22 open reading frame 24 22 22 22 q12.1-q12.3 16129958 16141784 - 30659507 30671336 - 32329507 32341336 - 10591208 25775 B7Z221;Q9Y442 ABBA01055356;ABBA01055357;AJ704765;AJ704766;AK294232;AK315264;AL050256;AMYH01012724;CH471095;NM_015372;Z82248 BAG37681;BAH11707;CAB43358;CAG28925;CAG28926;EAW60000;NP_056187;Q9Y442 Hs.627602 1807346;1814548;1823110;1825826;1827864;1828968;1830182;1830980;1831256;1831864;1832560;1838578;1840864;1842456;1844852;2009840;2009842;2009844;2009846;2009848;2009850;2009852;2009854;2009856;2009858;2009860;2009862;2009864;2009866;2009868;2009870;2009872;2009874;2009876;2009878;2009880;2009882;2009884;2009886;2009888;2009890;2009892;2009894;2009896;2009898;2009900;2009902;2009904;2009906;2009908;2009910;2009912;2009914;2009916;2009918;2009920;2009922;2009924;2009926;2009928;2009930;2009932;2009934;2009936;2009938;2009940;2009942;2009944;2009946;2009948;2009950;2009952;2009954;2009956;2098064;2098066;2098068;2098070;2098072;2098074;2098076;2098078;2098080;2098082 ECD04644;ECD08304;ECD12643;ECD14021;ECD15055;ECD15611;ECD16224;ECD16626;ECD16764;ECD17070;ECD17420;ECD20463;ECD21625;ECD22431;ECD23642;REN75841;REN75842;REN75843;REN75844;REN75845;REN75846;REN75847;REN75848;REN75849;REN75850;REN75851;REN75852;REN75853;REN75854;REN75855;REN75856;REN75857;REN75858;REN75859;REN75860;REN75861;REN75862;REN75863;REN75864;REN75865;REN75866;REN75867;REN75868;REN75869;REN75870;REN75871;REN75872;REN75873;REN75874;REN75875;REN75876;REN75877;REN75878;REN75879;REN75880;REN75881;REN75882;REN75883;REN75884;REN75885;REN75886;REN75887;REN75888;REN75889;REN75890;REN75891;REN75892;REN75893;REN75894;REN75895;REN75896;REN75897;REN75898;REN75899;stSG602406;stSG602407;stSG602408;stSG602409;stSG602410;stSG602411;stSG602412;stSG602413;stSG602414;stSG602416 HSN44A4A OTTHUMP00000028906;hypothetical protein LOC25775;uncharacterized protein C22orf24 protein-coding ENSG00000128254 23051 PREDICTED 1351457 C21orf67 chromosome 21 open reading frame 67 21 21 21 q22.3 31459702 31466331 - 45179076 45184010 - 46353199 46359828 - 6480464 16780588;15489334;12477932;11707072;8889548 84536 P58512 ABBA01074179;AF380178;AL844908;AMYH01012301;AY035381;AY040088;BC101235;BC101236;BC101237;BC101238;BC128244;BC128245;BI829356;BI907880;BM674075;CH471079;NR_027128;NR_027129 AAK60445;AAK74136;AAL34496;EAX09373;EAX09375;P58512 Hs.534504 5493543 UniSTS:487137 C21orf69;MGC120186;MGC120187;MGC120188;MGC120189;MGC149386;MGC149387;PRED54 miscrna ENSG00000183250 15707 10762 VALIDATED 1602476 C22orf26 chromosome 22 open reading frame 26 22 22 22 q13.31 30353970 30357655 - 44825003 44828688 - 46446339 46450024 - 6480464 16344560;14702039 55267 Q9NV39 ABBA01010435;AK001807;AK096201;AL121672;AMYH01012852;AU134173;CH471138;NM_018280 AAI52897;AAI56804;BAA91920;EAW73396;EAW73397;NP_060750;Q9NV39 Hs.567529 5037552 D8S2279 FLJ10945 OTTHUMP00000197301;putative uncharacterized protein C22orf26 protein-coding 25606 07717 VALIDATED 1343351 C21orf88 chromosome 21 open reading frame 88 21 21 21 q22.2 26166505 26182180 - 39890944 39906621 - 40969074 40984749 - 6480464 16344560;15489334;12477932;12036297;11181995;20494980 114041 K4DI91;P59052 ABBA01009332;AF064860;AF426266;AF426267;AK129590;AMYH01012252;BC062296;BC080530;BC119737;BC119738;BG751912;CH471079;DA218783;NR_026542;NR_026543 AAM53522;AAM53523;BAC85189;EAX09633;EAX09634;EAX09635;EAX09636;P59052 Hs.375120 1730867;2168889 D21S1983;D21S397 FLJ26079 miscrna ENSG00000184809 16424 09847 VALIDATED 1347547 C21orf90 chromosome 21 open reading frame 90 21 21 21 q22.3 31044774 31046536 + 44761526 44763067 + 45937098 45938860 + 16344560;15489334;12477932;12036297 114043 P59090 ABBA01074169;AF426269;AF426270;AMYH01012296;AP001066;BC016690;BC064517;BC101650;BC101654;CH471079;DA908807;NR_026547;NR_026548 AAM53525;AAM53526;EAX09421;P59090 Hs.592163 2148922;5113175;5493209 RH75464;SHGC-87699;UniSTS:485313 MGC126699;MGC126703 miscrna 16428 10775 VALIDATED 1352771 C21orf91 chromosome 21 open reading frame 91 21 21 21 q21.1 4339748 4370167 - 18083155 18113574 - 19161284 19191703 - 6480464 16344560;16189514;14702039;12815627;12477932;9828130;8125298;20360068;22039568;18624398 54149 E7ETB0;Q68DA1;Q9NYK6 ABBA01057126;AF239726;AJ227876;AK023825;AK225123;AK314471;AL109761;AMYH01012150;BC015468;BF739854;CH471079;CR457317;CR749496;DA215855;DB066982;NM_001100420;NM_001100421;NM_017447 AAF44695;AAH15468;BAB14691;BAG37077;CAG33598;CAH18319;EAX10020;EAX10021;EAX10022;NP_001093890;NP_001093891;NP_059143;Q9NYK6 Hs.293811 1652901;1673269;1679271;1698574;1730716;1730843;1730845 D21S362;D21S384;D21S385;D5S2606;D7S2890;RH102839;RH36095 C21orf14;C21orf38;CSSG1;DKFZp781D1223;EURL;YG81 OTTHUMP00000083236;OTTHUMP00000083237;OTTHUMP00000083238;OTTHUMP00000083239;cold sore susceptibility gene 1;early undifferentiated retina and lens;protein EURL homolog protein-coding ENSG00000154642 16459 10776 VALIDATED 1606220 C22orf29 chromosome 22 open reading frame 29 22 22 22 q11.21 3685729 3694440 - 18213661 18222371 - 19833661 19842371 - 6480464 12477932;8125298;18029348;16344560 79680 C9J0V4;Q7L3V2 ABBA01005404;AC000076;AK024778;AK026924;AK225088;AK291262;AL832509;AMYH01012482;BC008696;BC011679;BX640785;BX640969;BX640998;CH471176;DA182195;DA757523;NM_024627 AAH11679;BAB14998;BAF83951;CAE45875;CAE45984;CAE46001;EAX03018;EAX03019;NP_078903;Q7L3V2 Hs.105642 1671460;1699616;1774071;2129696;2154583;2159289;5020988;5022322 D11S2560;D22S958;RH103410;RH46328;SHGC-56622;STS-AA041293;STS-T79756;WI-15274 BOP;FLJ21125 BH3-only protein;OTTHUMP00000196851;OTTHUMP00000196852;OTTHUMP00000196853;OTTHUMP00000197843;hypothetical protein LOC79680;protein Bop;uncharacterized protein C22orf29 protein-coding ENSG00000215012 26112 13382 VALIDATED 1349066 C22orf15 chromosome 22 open reading frame 15 22 22 22 q11.23 7944301 7947143 + 22435208 22438047 + 24105208 24108050 + 6480464 16344560;15461802;14702039;12477932;10591208;8889548 150248 F8W7S3;Q8WYQ4 AB050773;ABBA01055120;AK093880;AMYH01012647;AP000348;AP000349;BC113450;BC113452;BU584544;BU739625;CH471095;CR456371;DB200363;NM_182520 AAI13451;AAI13453;BAB83035;CAG30257;CAK54507;CAK54806;EAW59599;EAW59600;EAW59601;NP_872326;Q8WYQ4 Hs.116254 2220680 UniSTS:492208 FLJ36561;N27C7-3 OTTHUMP00000198419;OTTHUMP00000198420;hypothetical protein LOC150248;protein N27C7-3;uncharacterized protein C22orf15 protein-coding ENSG00000169314 15558 08778 VALIDATED 2303885 C22orf34 chromosome 22 open reading frame 34 22 22 22 q13.33 33934897 33972840 - 48400123 48437082 - 50013290 50051190 - 12477932 348645 A6ZJ96;C9JIL5;F2Z342;F2Z3N5;H7C0R5;Q6ZV56 ABBA01031331;ABBA01031332;AK124962;AK126430;AMYH01012883;BC048207;BC118575;BM051939;NR_026997;Z82189;Z97192 BAC86548;Q6ZV56 Hs.133159 1693530;1714195 RH119708;SHGC-58440 miscrna 28010 14180 PREDICTED 1351784 C22orf23 chromosome 22 open reading frame 23 22 22 22 q13.1 22141251 22151322 - 36669479 36679551 - 38339057 38349676 - 15489334;15461802;14702039;12477932;11237012;15342556;16344560 84645 B0QYM1;B0QYM2;Q9BZE7 ABBA01055494;ABBA01055495;AF324466;AK057349;AL031587;AMYH01012758;BC031998;BI463610;BI827388;BP368870;CH471095;CR456440;DA968042;NM_001207062;NM_032561 AAH31998;AAK07640;BAB71442;CAG30326;CAK54469;CAK54768;EAW60200;EAW60201;NP_001193991;NP_115950;Q9BZE7 Hs.517612 1676152;1684012;1699222;1770756;2180525;2185135 RH103192;RH46410;RH68010;RH92562;RH93282;SHGC-57930 EVG1;FLJ32787;dJ1039K5.6 OTTHUMP00000198218;OTTHUMP00000198219;OTTHUMP00000198220;OTTHUMP00000198221;OTTHUMP00000199345;UPF0193 protein EVG1;hypothetical protein LOC84645 protein-coding 18589 12799 VALIDATED 1604988 C22orf42 chromosome 22 open reading frame 42 22 22 22 q12.3 16345977 16355751 - 30875519 30885243 - 32545519 32555243 - 6480464 15461802;12477932 150297 Q6IC83 ABBA01055365;AL008723;AMYH01012727;BC040263;CH471095;CR456485;NM_001010859;Z83839 AAI39846;CAG30371;EAW60007;EAW60008;NP_001010859;Q6IC83 Hs.426551 1799346;1802284;1803558;1803560;1806582;1819172;1824484;1824628;1826498;1831202;1845974;2011630;2011632;2011634;2011636;2011638;2011640;2011642;2011644;2011646;2011648;2011650;2011652;2011654;2011656;2011658;2011660;2011662;2011664;2011666;2011668;2011670;2011672;2011674;2011676;2011678;2011680;2011682;2011684;2011686;2011688;2011690;2011692;2011694;2011696;2011698;2011700;2011702;2011704;2011706;2098350;2098352;2098354;2098356;2098358;2098360;2098362;5112884;5121975 ECD00522;ECD02026;ECD02680;ECD02681;ECD04248;ECD10653;ECD13340;ECD13412;ECD14363;ECD16737;ECD20124;ECD24207;REN76741;REN76742;REN76743;REN76744;REN76745;REN76746;REN76747;REN76748;REN76749;REN76750;REN76751;REN76752;REN76753;REN76754;REN76755;REN76756;REN76757;REN76758;REN76759;REN76760;REN76761;REN76762;REN76763;REN76764;REN76765;REN76766;REN76767;REN76768;REN76769;REN76770;REN76771;REN76772;REN76773;REN76774;REN76775;REN76777;REN76778;REN76779;REN76780;REN76781;stSG602559;stSG602560;stSG602561;stSG602563;stSG602564;stSG602565;stSG602566 RP1-127L4.6;dJ90G24.6 OTTHUMP00000028678;chromosome 22 open reading frame 42;uncharacterized protein C22orf42 protein-coding 27160 14087 PROVISIONAL 1606462 C22orf39 chromosome 22 open reading frame 39 22 22 22 q11.21 3280666 3288012 - 17810894 17815220 - 19428409 19435755 - 12477932;15461802;14702039;21666788;21900206 128977 E0CX16;Q6P5X5 ABBA01005411;AC000068;AI379685;AK095271;AK290073;AMYH01012479;BC030758;BC046204;BC062599;BX337505;BX648073;CH471176;CR456339;NM_001166242;NM_173793 AAH62599;BAF82762;CAG30225;EAX03039;EAX03040;EAX03041;NP_001159714;NP_776154;Q6P5X5 Hs.659565 1854773;2112500;2128841;5015959;5022651 D10S2448;D11S2921;D22S1665;RH48037;RH65762 DKFZp686I08210;MGC74441 OTTHUMP00000196398;OTTHUMP00000196399;UPF0545 protein C22orf39;hypothetical protein LOC128977 protein-coding ENSG00000242259 27012 14041 VALIDATED 1606712 C2CD4A C2 calcium-dependent domain containing 4A 15 15 15 q22.2 39248417 39252360 + 60146468 60150408 + 62359176 62363116 + 6480464 16341674;15527968;20818381;21799836;21873549;20881960 145741 Q8NCU7 ABBA01038928;AC104590;AF504646;AMYH01006696;AMYH01006697;BF196228;BM742013;BX648578;CH471082;NM_207322 AAI72259;AAM28197;EAW77609;NP_997205;Q8NCU7 Hs.202656 DKFZp686O2263;FAM148A;NLF1 C2 calcium-dependent domain-containing protein 4A;family with sequence similarity 148, member A;nuclear localized factor 1;nuclear-localized factor 1 APPROVED protein-coding ENSG00000198535 33627 14830 610343 VALIDATED 1604374 C22orf31 chromosome 22 open reading frame 31 22 22 22 q12.1 13254591 13257838 - 27784660 27787907 - 29454660 29457907 - 12477932;18029348;15489334;15461802;12529303;10591208;20379614 25770 O95567 ABBA01055254;AL021393;AL035364;AMYH01012694;BC074758;BC126262;BC126264;CH471095;CR456405;NM_015370 AAH74758;AAI26263;AAI26265;ABZ92316;ADR82916;ADR82921;CAA23017;CAG30291;EAW59772;NP_056185;O95567 Hs.50891 1684712;1747413;1747415;2166916;2219144 G65433;G65434;HS747E2A__6596;RH98220;SHGC-37725 HS747E2A;bK747E2.1 OTTHUMP00000198941;hypothetical protein LOC25770;uncharacterized protein C22orf31 protein-coding ENSG00000100249 26931 11031 PREDICTED 1604924 C2CD4B C2 calcium-dependent domain containing 4B 15 15 15 q22.2 39344987 39346711 - 60243029 60244774 - 62455737 62457482 - 6480464 16344560;15527968;8889548;20571754;20818381;20081858;20185807;20419449;20862305;16341674;21799836;21873549;18029348;22885067 388125 A6NLJ0 ABBA01038928;AC126323;AMYH01006697;AW292865;BM023530;BM127548;BM850957;BM974537;BQ101161;BX109954;DA584890;NM_001007595 A6NLJ0;AAI72378;NP_001007596 Hs.144372 FAM148B;NLF2 C2 calcium-dependent domain-containing protein 4B;family with sequence similarity 148, member B;nuclear localized factor 2;nuclear-localized factor 2 APPROVED protein-coding ENSG00000205502 33628 17636 610344 VALIDATED 1351171 C2CD4C C2 calcium-dependent domain containing 4C 19 19 19 p13.3 405821 409548 + 356443 364234 - 405443 409170 - 6480464 11853319;15527968;23251661 126567 Q8TF44 AB075837;ABBA01002560;AC008988;AL834341;AMYH01009182;CH471242;NM_001136263 BAB85543;CAD39008;EAW61198;EAW61199;EAW61200;NP_001129735;Q8TF44 Hs.223770 2180228 WI-14847 FAM148C;KIAA1957;NLF3 C2 calcium-dependent domain-containing protein 4C;family with sequence similarity 148, member C;nuclear localized factor 3;nuclear-localized factor 3 APPROVED protein-coding ENSG00000183186 29417 610336 VALIDATED 1321089 C2CD2L C2CD2-like 11 11 11 q23.3 116135506 116145233 + 118483303 118493037 + 118978093 118987827 + 737633;1580863;6480464 12477932 9179496;17081983;16368544;15489334;15289880;12168954;21139048 9854 E9PK05;O14523 AB006623;AB094094;ABBA01039679;AK025223;AMYH01004080;AP003391;BC003598;BC010071;BC021254;BC022219;BC033083;BC040131;BC052246;BC075832;BX537572;CH471065;NM_014807 AAH03598;AAH10071;AAH21254;AAH22219;AAH33083;AAH52246;AAH75832;BAA22954;BAC76048;EAW67456;EAW67457;EAW67458;EAW67459;NP_055622;O14523 Hs.26899 1731477;1737757;1850503;2109977;5015404 D11S3352;D11S368;L17705;RH15998;TMEM24_9007 DLNB23;KIAA0285;TMEM24 C2 domain-containing protein 2-like;OTTHUMP00000232079;OTTHUMP00000232080;transmembrane protein 24 APPROVED protein-coding 29000 15533 VALIDATED 1606236 C22orf46 chromosome 22 open reading frame 46 22 22 22 q13.2 25892983 25900572 + 40416497 40424086 + 42086547 42094140 + 6480464 15231748;14702039;12477932;21832049 79640 C9J442;Q9H5C5 ABBA01055651;AK027237;AK095008;AK131457;AMYH01012804;BC007210;BC035403;CH471095;NM_001142964;Z83840 AAH07210;BAB15702;BAD18602;C9J442;EAW60455;EAW60457;NP_001136436 Hs.517653 1681004 RH74961 FLJ23584 CTA-216E10.6;OTTHUMP00000199327;putative uncharacterized protein C22orf46;uncharacterized protein C22orf46 APPROVED protein-coding ENSG00000184208 26294 08037 VALIDATED 1351796 C2CD2 C2 calcium-dependent domain containing 2 21 21 21 q22.3 28452727 28521539 - 42178288 42247068 - 43305219 43373999 - 6480464 16780588;15289880;12477932;10830953;20494980;21139048;19322201 25966 H7BZB0;Q9Y426 AB047784;AB047785;ABBA01014181;AI143200;AI298951;AK125120;AK128550;AK129520;AL050173;AL833323;AMYH01012265;AP001619;AP001745;BC020927;BC035070;BC062323;CH471079;CR627455;NM_015500;NM_199050;R13033 AAH62323;BAA95528;BAC85176;BAD74068;BAD74069;BAG54149;BAG54693;CAB43307;CAH10536;EAX09582;EAX09583;NP_056315;NP_950251;Q9Y426 Hs.473894;Hs.675058 1663454;1689963;1696920;1723063;1735034;2122441;2165608;2185052;2185641;5015961;5105797 D15S1477;D21S1728E;D21S1863;D5S2584;G34529;RH101928;RH121883;RH45596;RH79573;SHGC-147283;WI-20893 C21orf25;C21orf258;DKFZp586F0422;DKFZp686O198;MGC71445;TMEM24L C2 domain-containing protein 2;OTTHUMP00000109276;OTTHUMP00000204005;TMEM24 related geme;TMEM24-like protein-coding ENSG00000157617 1266 10745 VALIDATED 1602719 C22orf43 chromosome 22 open reading frame 43 22 22 22 q11.2 7789807 7813597 - 22280639 22304487 - 23950639 23974508 - 15461802;12477932;11230166;20237496;16344560 51233 Q6PGQ1 ABBA01055117;AK310349;AL080197;AMYH01012646;AP000346;BC056888;BC063390;CH471095;CR456370;DB052993;NM_016449 AAH56888;ACE86987;ACE87676;CAB75693;CAG30256;EAW59585;EAW59586;EAW59587;NP_057533;Q6PGQ1 Hs.517466 1682952;1700778;1784518 RH104014;RH91977;SHGC-170339 MGC33025;MGC75009 OTTHUMP00000198312;putative uncharacterized protein C22orf43;uncharacterized protein C22orf43 protein-coding ENSG00000189269 28031 17422 VALIDATED 3563711 C2CD4D C2 calcium-dependent domain containing 4D 1 1 q21.3 124925032 124927726 - 151810339 151813033 - 6480464 12477932 100191040 B7Z1M9 ABBA01049405;AK293673;AL589765;AMYH01001395;BC157847;BC171843;DC305608;NM_001136003 AAI57848;AAI71843;B7Z1M9;BAH11565;NP_001129475 Hs.694717 2179324 RH48909 FAM148D;MGC189742 C2 calcium-dependent domain-containing protein 4D;OTTHUMP00000235505;family with sequence similarity 148, member D protein-coding ENSG00000225556 37210 VALIDATED 1607065 C2CD3 C2 calcium-dependent domain containing 3 11 11 11 q13.4 71052284 71188859 - 73423128 73559712 - 73745480 73882064 - 6480464 16344560;14702039;12477932;21139048;21906983 26005 F5H0U2;H0YFM6;H0YG44;H7BZB4;H7C288;Q8NDH7 AB231763;AB231764;ABBA01017494;ABBA01017495;ABBA01017496;ABBA01017497;AK091397;AK092089;AK125894;AL080220;AL833903;AMYH01003812;AP002392;AP003717;BC035599;BC110508;BM460060;CD369754;DB068715;DB078025;NM_015531 AAH35599;AAI10509;BAC03654;BAC03802;BAC86334;BAE17137;BAE46898;CAB45779;CAD38759;NP_056346;Q4AC94 Hs.557938;Hs.694798 1665606;1686538;1724119;1735096;1737987;2148653;2176309;2180121;5126134 A008X42;D11S3588;D11S944E;D3S2776E;RH119059;RH26881;RH36451;RH66358;WI-18676 DKFZp586P0123;FLJ34770 C2 domain-containing protein 3;OTTHUMP00000237955 protein-coding ENSG00000168014 24564 16811 VALIDATED 1347260 C2orf20 chromosome 2 open reading frame 20 394262 BC009491 31020 1349564 C2orf19 chromosome 2 open reading frame 19 2 q37.3 238726269 238729374 - 12477932 394261 Q8NEE0 AC016757;BC031945;CH471063;NM_001024676 AAH31945;AAY24334;EAW71142;NP_001019847;Q8NEE0 protein-coding 31018 18620 3051032 C2orf27AP1 chromosome 2 open reading frame 27A pseudogene 1 Y 13241152 13241737 - 100420811 ABBA01013637;AC140113;NG_021911 pseudo 38413 INFERRED 1344280 C2orf31 chromosome 2 open reading frame 31 737633 12477932 11230166 81561 AL136852 25264 1352942 C2orf16 chromosome 2 open reading frame 16 2 2 2 p23.3 27644817 27651017 + 27652893 27659093 + 27799389 27805589 + 17081983;15815621;12477932;11230166;20705733;21386085;23505323;22001757;23362303 84226 Q68DN1 ABBA01045211;AC074091;AL136898;AL834384;AMYH01010198;BC115376;BC115377;BC140828;CH471053;CR749335;NM_032266 AAI15377;AAI40829;AAX93198;CAB66832;CAD39047;CAH18189;EAX00566;NP_115642;Q68DN1 Hs.131021 DKFZp434G118;DKFZp781D2023 OTTHUMP00000214070;hypothetical protein LOC84226;uncharacterized protein C2orf16 protein-coding ENSG00000221843 25275 09849 VALIDATED 1354289 C2orf12 chromosome 2 open reading frame 12 q24.3 15815621;15489334;12477932 192137 Q8TDM3 AC092153;AL117617;BC065192;BC069687;BC069706;BC069763;BC080620;XM_938663;XM_944033 AAH65192;AAH69687;AAH69706;AAH69763;AAH80620;AAX93094;Q8TDM3;XP_943756;XP_949126 Hs.470412 DKFZp564H0764;HCC-4 protein-coding 24242 1349020 C2orf15 chromosome 2 open reading frame 15 2 2 2 q11.2 93962876 93972638 + 99124617 99134382 + 99758185 99767950 + 6480464 15815621;15489334;12477932;21926972 150590 Q8WU43 ABBA01073951;ABBA01073952;AC092587;AK314133;AMYH01010804;BC021264;CH471127;NM_144706 AAH21264;AAX88926;ABM83537;ABM86777;BAG36823;EAX01893;NP_653307;Q8WU43 Hs.352211 FLJ44438;MGC29762 OTTHUMP00000161214;OTTHUMP00000203295;hypothetical protein LOC150590;uncharacterized protein C2orf15 protein-coding ENSG00000241962 28436 12806 PREDICTED 736134 C2CD5 C2 calcium-dependent domain containing 5 12 12 12 p12.1 27749342 27845274 - 22492784 22588719 - 22601517 22697452 - 6480464 17353931;17081983;15489334;15302935;12477932;9628581;22939629;21139048;19322201;21907143;21853274 9847 B4DRN7;F5H2A1;F5H3N1;F5H5R1;H0YFC4;H0YFE9;H0YGJ3;H0YGU7;Q86YS7 AB011100;ABBA01067986;AC053513;AK295862;AK299353;AK310753;AMYH01004325;AY166851;BC042498;BC053885;BC117143;BC143859;BC143860;BC143878;BX648560;CH471094;NM_014802 AAH42498;AAH53885;AAI17144;AAI43860;AAI43861;AAI43879;AAO17290;BAA25454;BAG58665;BAG61349;EAW96473;EAW96474;EAW96475;EAW96476;NP_055617;Q86YS7 Hs.271014 1678365;1680547 RH36754;RH76458 CDP138;DKFZp779N2044;KIAA0528 138 kDa C2 domain-containing phosphoprotein;C2 domain-containing phosphoprotein of 138 kDa;C2 domain-containing protein 5;OTTHUMP00000240092;OTTHUMP00000240093;OTTHUMP00000240094;OTTHUMP00000240095;OTTHUMP00000240096;OTTHUMP00000240097;hypothetical protein LOC9847;phosphatidylinositol glycan, class l;uncharacterized protein KIAA0528 APPROVED protein-coding ENSG00000111731 29062 11087 PROVISIONAL 1601786 C2orf27B chromosome 2 open reading frame 27B 2 2 q21 132269004 132275704 - 132552534 132559234 - 12477932;17207965 408029 Q580R0 ABBA01028227;AC103564;AMYH01011104;BC043584;NM_214461 AAH43584;AAY24065;ADQ33114;NP_999626 Hs.145567 2185223;5113679 RH11944;RH99290 MGC50273 OTTHUMP00000206272;hypothetical protein LOC408029;uncharacterized protein LOC408029 protein-coding ENSG00000186825 33824 14664 PREDICTED 1603029 C2orf42 chromosome 2 open reading frame 42 2 2 2 p13.3 70227826 70268958 - 70230521 70271655 - 70377017 70418151 - 6480464 12477932;22990118;23251661 54980 C9J4L7;C9J5U1;C9JJF4;C9JK51;C9JKD5;C9JS43;C9JV10;C9JZF3;Q9NWW7 ABBA01075526;ABBA01075527;ABBA01075528;ABBA01075529;AC016700;AK000565;AK026303;AL136834;AMYH01010425;BC002825;BC005079;CH471053;NM_017880 AAH02825;AAH05079;AAX93192;BAA91258;BAB15438;CAB66768;EAW99828;EAW99829;EAW99830;EAW99831;NP_060350;Q9NWW7 Hs.720049 FLJ20558 OTTHUMP00000160044;OTTHUMP00000203977;hypothetical protein LOC54980;uncharacterized protein C2orf42 protein-coding ENSG00000115998 26056 07927 PREDICTED 1353501 C2orf27A chromosome 2 open reading frame 27A 2 2 2 q21.2 126204833 126250421 + 132196534 132241449 + 132480064 132524977 + 6480464 15815621;15489334;12477932;9110174;8619474 29798 Q580R0 ABBA01028227;AC093724;AF038169;AI302788;AI418663;AMYH01011104;BC071972;BC093716;BC112189;CH471058;NM_013310 AAB97362;AAH93716;AAI12190;AAX82001;EAX11684;EAX11685;EAX11686;NP_037442;Q580R0 Hs.635289;Hs.655680 2185223;5113679 RH11944;RH99290 C2orf27;C2orf27B;MGC138394 OTTHUMP00000162444;hypothetical protein LOC29798;uncharacterized protein C2orf27 protein-coding ENSG00000197927 25077 12811 VALIDATED 1605056 C2orf43 chromosome 2 open reading frame 43 2 2 2 p24.1 20747203 20885172 - 20748299 20886308 - 20884818 21022827 - 6480464 12477932;20676098;20379614;17207965;21059979;20339536;22662242;21139048;21890473;21906983;17135363 60526 B4DRG3;B5MCE2;B5MCU4;B5MDU6;B7ZA47;B7ZAJ5;C9JHU6;C9JUM0;D3YTH1;Q9H6V9 ABBA01018472;ABBA01018473;AC012065;AC012361;AK025473;AK299244;AK299555;AK300494;AK301493;AK316162;AK316204;AK316310;AL137397;AMYH01010156;BC017473;CH471053;NM_021925 AAH17473;AAX93236;AAY14959;ADQ31891;BAB15142;BAG61275;BAG61500;BAG62208;BAG63004;BAH14533;BAH14575;BAH14681;EAX00806;EAX00807;EAX00808;EAX00809;EAX00810;NP_068744;Q9H6V9 Hs.187823 1659222;1674343;1687746;1776795;1790727;1790731;1850439;2144350;2171213;2178552;2182136 AFMa070za9;B293ZC9;RH44584;RH65141;RH66466;RH99120;SHGC-12237;SHGC-33648;STS-ETM1231;STS-ETM1240;WI-11147 FLJ21820 OTTHUMP00000151184;OTTHUMP00000151185;UPF0554 protein C2orf43;hypothetical protein LOC60526 protein-coding ENSG00000118961 26145 07113 613570 PREDICTED 1603606 C2orf40 chromosome 2 open reading frame 40 2 2 q12.2 106048545 106061040 + 106682113 106694611 + 6480464 22411956;22626786;18029348;19521989;17786363;17284679;15815621;15489334;12975309;12800218;12477932;20017917;21288367;20598162;22901147;22110708;21935431;21436262;22526622;23770814;22325214 84417 B8ZZE5;C9JRR0;Q9H1Z8 ABBA01073844;ABBA01073845;ABBA01073846;AC018878;AF325503;AMYH01010837;AY358601;BC021742;CH471127;CS072958;FB740500;NM_032411 AAG42321;AAH21742;AAQ88964;AAY15084;ABM83338;ABM86552;CAI93686;CAX20415;EAX01751;EAX01752;NP_115787;Q9H1Z8 Hs.43125 1663737 RH69278 ECRG4 OTTHUMP00000161527;OTTHUMP00000203230;OTTHUMP00000203231;augurin;esophageal cancer related gene 4 protein;esophageal cancer-related gene 4 protein protein-coding ENSG00000119147 24642 13261 611752 VALIDATED 1601962 C2orf44 chromosome 2 open reading frame 44 2 2 2 p23.3 24092585 24110627 - 24105747 24123727 - 24252206 24270296 - 12029088;17353931;16344560;12477932;16169070;19197348;19596235;18218781;16051665;20360068;21900206;22327622 80304 C9JYC1;Q9H6R7 ABBA01045100;ABBA01045101;AC104665;AF218013;AI800484;AK025598;AMYH01010164;BC035698;CH471053;CX756689;DB292134;NM_001142319;NM_025203 AAG17255;AAH35698;AAY24115;BAB15186;EAX00771;EAX00772;NP_001135791;NP_079479;Q9H6R7 Hs.24624 1681245;1682251;1694540;1770027;2168809 G43158;RH36907;RH79240;RH93548;STS-R16779 FLJ21945;PP384 OTTHUMP00000155153;OTTHUMP00000200748;WD repeat-containing protein C2orf44 protein-coding ENSG00000163026 26157 07972 VALIDATED 1603199 C2orf47 chromosome 2 open reading frame 47 2 2 2 q33.1 194574744 194583552 + 200528285 200537085 + 200820040 200828848 + 6480464 12477932;20877624;19176441;17207965;21832049;21139048;21890473;20360068 79568 H7C0V0;Q8WWC4 ABBA01062509;AC097717;AK026208;AL832964;AMYH01011397;BC017959;BQ448209;CH471063;NM_024520 AAH17959;AAY24163;ADQ32132;BAB15393;CAH56348;EAW70195;EAW70196;NP_078796;Q8WWC4 Hs.154494 2172917 RH78324 DKFZp666A212;FLJ22555 OTTHUMP00000163659;hypothetical protein LOC79568;uncharacterized protein C2orf47, mitochondrial protein-coding ENSG00000162972 26198 07994 VALIDATED 1604753 C2orf50 chromosome 2 open reading frame 50 2 2 2 p25.1 11188994 11202728 + 11190630 11203603 + 11273179 11286916 + 12477932;22779921;23319000 130813 Q96LR7 ABBA01015641;ABBA01015642;AC062028;AK057872;AK292828;AMYH01010110;BC120930;CH471053;NM_182500 AAI20931;BAB71603;BAF85517;EAX00943;EAX00944;NP_872306;Q96LR7 Hs.406894 FLJ25143;MGC149401 OTTHUMP00000147596;OTTHUMP00000200414;hypothetical protein LOC130813;uncharacterized protein C2orf50 protein-coding ENSG00000150873 26324 08051 VALIDATED 1602960 C2orf61 chromosome 2 open reading frame 61 2 2 2 p21 47152977 47221350 - 47209091 47235930 - 47314130 47382517 - 16344560;14702039;20339536;20379614 285051 H7C2Z2;H7C3W9;Q8N801 ABBA01075150;ABBA01075151;ABBA01075152;ABBA01075153;AC073283;AK097491;AMYH01010321;CH471053;DA313162;NM_001163561;NM_173649 AAI72329;AAY24084;BAC05075;EAX00224;EAX00225;NP_001157033;NP_775920;Q8N801 Hs.531575 FLJ40172 OTTHUMP00000159071;OTTHUMP00000203195;hypothetical protein LOC285051;uncharacterized protein C2orf61 protein-coding ENSG00000239605 26850 08273 VALIDATED 1606097 C2orf48 chromosome 2 open reading frame 48 2 2 2 p25.1 10197558 10267755 + 10198960 10269307 + 10281981 10350942 + 15489334;14702039;12477932 348738 Q96LS8 ABBA01015606;ABBA01015607;ABBA01015608;AC007240;AK057831;AMYH01010100;BC093999;BC094001;CH471053;NM_182626 AAH93999;AAH94001;BAB71592;EAX00967;NP_872432;Q96LS8 Hs.454981 1687882 RH92352 FLJ25102 OTTHUMP00000147547;hypothetical protein LOC348738;uncharacterized protein C2orf48 protein-coding 26322 08049 PREDICTED 1602815 C2orf53 chromosome 2 open reading frame 53 2 2 2 p23.3 27206021 27208638 - 27213219 27215836 - 27359715 27362332 - 16344560;12477932;17207965 339779 C9JVA3;Q53SZ7 AA812952;ABBA01045195;AC013403;AMYH01010194;BC045671;BX118458;CH471053;DB022743;DB052016;DB336367;HC007168;HC044575;NM_178553 AAH45671;AAX93171;ADQ32954;CBH19389;CBH30617;EAX00625;NP_848648;Q53SZ7 Hs.136555 2151281 D2S1748 MGC44505 OTTHUMP00000158509;hypothetical protein LOC339779;uncharacterized protein C2orf53 protein-coding ENSG00000186143 28677 14633 VALIDATED 1606945 C2orf57 chromosome 2 open reading frame 57 2 2 2 q37.1 226233973 226235392 + 232165856 232167238 + 232457575 232458994 + 12477932;20379614;21832049 165100 Q53QW1 ABBA01002055;AC104634;AMYH01011559;BC034405;BC063389;CH471063;NM_152614 AAH34405;AAH63389;AAY24071;ABM82214;ABM85398;EAW70967;NP_689827;Q53QW1 Hs.98104 1685782 RH92133 MGC35154 OTTHUMP00000164298;hypothetical protein LOC165100;uncharacterized protein C2orf57 protein-coding ENSG00000177673 28563 14602 VALIDATED 1605342 C2orf54 chromosome 2 open reading frame 54 2 2 2 q37.3 235498112 235508356 - 241474138 241484246 - 241825465 241835573 - 6480464 14702039;12477932 79919 C9JEK0;C9JP86;H7BXM3;Q08AI8 ABBA01006034;AC104809;AK026324;AK055735;AK056601;AK096434;AMYH01011626;BC125154;BC125155;CH471063;NM_001085437;NM_024861 AAI25155;AAI25156;AAY24169;BAB15445;BAG51761;BAG53291;EAW71218;EAW71219;EAW71220;NP_001078906;NP_079137;Q08AI8 Hs.193745 1763313;1773572;1779414 RH64976;SHGC-147042;SHGC-153404 FLJ22671;MGC150431;MGC150432 OTTHUMP00000200750;OTTHUMP00000200751;OTTHUMP00000200752;hypothetical protein LOC79919;uncharacterized protein C2orf54 protein-coding ENSG00000172478 26216 08003 VALIDATED 1604297 C2orf49 chromosome 2 open reading frame 49 2 2 2 q12.1 100154460 100162431 + 105320445 105328416 + 105954013 105961984 + 6480464 17081983;15815621;15489334;12477932;22990118;21832049;22939629;22174317;22944692 79074 B4E2G9;C9J4K0;Q9BVC5 ABBA01073858;AC012360;AK127661;AK304268;AK307891;AMYH01010834;BC001310;CH471127;NM_024093 AAH01310;AAY15011;ABM82138;ABM85321;BAG54545;BAG65131;EAX01763;NP_076998;Q9BVC5 Hs.549577 1689773;5022322;5037552 D11S2560;D8S2279;RH26023 FLJ45759;MGC5509;asw OTTHUMP00000161377;OTTHUMP00000203145;ashwin protein-coding 28772 14688 PROVISIONAL 2298820 C2orf70 chromosome 2 open reading frame 70 2 2 2 p23.3 26629117 26646026 + 26638985 26655899 + 26785481 26802395 + 14702039 339778 A6NJV1;B8ZZ55;H7C0N2 ABBA01045184;AC015977;AC108070;AK091483;AMYH01010192;CH471053;NM_001105519 A6NJV1;EAX00681;NP_001098989 Hs.407083 1676618 RH99278 OTTHUMP00000203783;OTTHUMP00000214053;UPF0573 protein C2orf70;hypothetical protein LOC339778 protein-coding ENSG00000173557 27938 PREDICTED 2298740 C2orf72 chromosome 2 open reading frame 72 2 2 2 q37.1 225677793 225689941 + 231605230 231623304 + 231902281 231914429 + 6480464 16344560;15815621;11752456;9110174;8619474 257407 A6NCS6 ABBA01002064;ABBA01002065;ABBA01002066;AC009407;AF007149;AF070612;AF086098;AMYH01011554;AMYH01011555;AV658788;DA141613;DB303203;NM_001144994 A6NCS6;NP_001138466 Hs.526596;Hs.551993 1645816;1850415;2147917;2167650;5022578 A007A45;D1S1423;RH16222;RH67878;SHGC-34388 OTTHUMP00000204821;hypothetical protein LOC257407;uncharacterized protein C2orf72 protein-coding ENSG00000204128 27418 VALIDATED 2298744 C2orf71 chromosome 2 open reading frame 71 The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010] 2 2 2 p23.2 29128955 29141525 - 29138062 29150631 - 29284556 29297127 - 6480464;7240710 14702039;21412943;20811058;20125088;20398884;20398886;8889548;20301590 388939 A6NGG8 ABBA01045243;AC105398;AK092250;AMYH01010208;BM669582;CH471053;NG_021427;NM_001029883 A6NGG8;EAX00517;NP_001025054 Hs.354243 FLJ34931 OTTHUMP00000201019;chromosome 2 open reading frame 71;uncharacterized protein C2orf71 APPROVED protein-coding ENSG00000179270 34383 613425;613428 REVIEWED 1602399 C2orf66 chromosome 2 open reading frame 66 2 2 2 q33.1 191425877 191430868 - 197378254 197383245 - 197669139 197675000 - 12975309;12477932 401027 Q6UXQ4 ABBA01062462;AC012486;AMYH01011385;AW768745;AY358249;BC137150;BC137151;CH471063;NM_213608 AAI37151;AAI37152;AAQ88616;EAW70135;NP_998773;Q6UXQ4 Hs.245666;Hs.372069 UNQ6411 OTTHUMP00000163620;hypothetical protein LOC401027;uncharacterized protein C2orf66 protein-coding 33809 13734 VALIDATED 2298835 C2orf78 chromosome 2 open reading frame 78 2 2 2 p13.1 73862173 73875539 + 73864824 73897782 + 74011316 74044274 + 388960 A6NCI8 ABBA01075585;ABBA01075586;ABBA01075587;AC092653;AC136006;AK125975;AMYH01010440;AMYH01010441;AMYH01010442;AMYH01010443;AMYH01010444;AMYH01010445;AMYH01010446;AMYH01010447;NM_001080474 A6NCI8;NP_001073943 Hs.456833 COG5373;FLJ43987;hCG1989538 OTTHUMP00000202508;hypothetical protein LOC388960;uncharacterized protein C2orf78 protein-coding ENSG00000187833 34349 PREDICTED 1602043 C2orf62 chromosome 2 open reading frame 62 2 2 2 q35 212988189 212999428 + 218929823 218941061 + 219221579 219232817 + 12477932;17207965;21832049 375307 Q7Z7H3 ABBA01023871;AC021016;AMYH01011494;BC052750;CH471063;NM_198559 AAH52750;ADQ33106;EAW70610;NP_940961;Q7Z7H3 Hs.645453 MGC50811 OTTHUMP00000164138;hypothetical protein LOC375307;uncharacterized protein C2orf62 protein-coding ENSG00000158428 25062 11846 PREDICTED 2298834 C2orf81 chromosome 2 open reading frame 81 2 2 2 p13.1 74472492 74476033 - 74488432 74498442 - 74641303 74644844 - 15815621 388963 A6NN90;E5RID8;E5RIL7;E5RIT9;E5RJQ4;G3XAA6 ABBA01075600;AC005041;AMYH01010454;BM045416;BX102034;CH471053;NM_001145054 A6NN90;EAW99682;EAW99683;NP_001138526 Hs.445377 1693472 SHGC-57623 hCG40743 OTTHUMP00000226132;Uncharacterized protein ENSP00000290390;hypothetical protein LOC388963;uncharacterized protein C2orf81 protein-coding ENSG00000159239 34350 PREDICTED 1606379 C2orf68 chromosome 2 open reading frame 68 2 2 2 p11.2 85660660 85667462 - 85687288 85692663 - 85832376 85839179 - 6480464 15146197;14702039;12477932;21874238;19322201 388969 F6S878;H7C1Q5;L7T9J5;Q2NKX9 ABBA01075761;AC012454;AC016753;AK024174;AK092972;AK124808;AK300003;AK311297;AMYH01010496;BC057834;BC111483;BU619982;CH471053;CN303296;JX960761;NM_001013649 AAI11484;AGC31581;BAC85956;BAG61822;EAW99495;NP_001013671;Q2NKX9 Hs.516159 1675078;2148268;5014051;5015619;5016596;5020274;5021872;5022200;5022450;5022578;5022651;5037552;5037554 D10S275;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;D8S2282;GDB:631802;L18426;L18441;SHGC-32166;WI-17158;sY3084 FLJ14112;FLJ35653;HCRCN81;MGC131675 OTTHUMP00000203084;UPF0561 protein C2orf68;hypothetical protein LOC388969 protein-coding 34353 18391 VALIDATED 1603539 C2orf69 chromosome 2 open reading frame 69 2 2 2 q33.1 194531108 194547696 + 200484274 200501241 + 200775979 200792996 + 6480464 16344560;14702039;12477932;17207965 205327 Q8N8R5 ABBA01062508;AC097717;AK096292;AMYH01011395;AMYH01011396;AMYH01011397;BC036456;CH471063;DA773166;NM_153689 AAH36456;AAY24161;ADQ31601;BAC04749;EAW70190;NP_710156;Q8N8R5 Hs.471040 1658121;1734736;2129723;2185435 D2S1523E;RH45770;RH69327;SHGC-31000 FLJ38973 OTTHUMP00000205792;UPF0565 protein C2orf69;hypothetical protein LOC205327 protein-coding ENSG00000178074 26799 08797 VALIDATED 2298736 C2orf74 chromosome 2 open reading frame 74 2 2 2 p15 61215846 61236014 + 61225792 61245468 + 61372243 61391964 + 6480464 12477932;21102463;22412388;21988832;23128233 339804 A8MZ97;C9JBF1 ABBA01075346;ABBA01075347;AC016747;AMYH01010379;BC014578;NM_001143959;NM_001143960 A8MZ97;NP_001137431;NP_001137432 Hs.140617 hypothetical protein LOC339804;uncharacterized protein C2orf74 protein-coding ENSG00000237651 34439 VALIDATED 5688543 C2orf91 chromosome 2 open reading frame 91 2 p21 42162508 42180943 - 400950 Q6ZV80 ABBA01075055;AC013480;AC104654;AK124893;AMYH01010280;NM_001242815 BAC85983;NP_001229744;Q6ZV80 Hs.738713 1758397 SHGC-148242 uncharacterized protein C2orf91;uncharacterized protein LOC400950 protein-coding ENSG00000205086 42966 VALIDATED 1603909 C2orf73 chromosome 2 open reading frame 73 2 2 2 p16.2 54398902 54427568 + 54411575 54442218 + 54558071 54588714 + 6480464 14702039;12477932;18654987 129852 B5MBY8;C9J598;E7ENW1;F8WD05;H7C1Z5;Q8N5S3 ABBA01075252;AC108929;AK097617;AMYH01010359;BC031669;BC126244;BC126246;BC144191;BC144192;CH471053;NM_001100396 AAH31669;AAI26245;AAI26247;AAI44192;AAI44193;BAC05122;EAX00149;EAX00150;EAX00151;NP_001093866;Q8N5S3 Hs.732626 1680294;1700410 RH103826;RH92103 FLJ40298 OTTHUMP00000200608;OTTHUMP00000200611;OTTHUMP00000201054;OTTHUMP00000213115;hypothetical protein LOC129852;uncharacterized protein C2orf73 protein-coding ENSG00000177994 26861 13446 VALIDATED 1606162 C2orf76 chromosome 2 open reading frame 76 2 2 2 q14.2 113386186 113450397 - 119776490 119840728 - 120060020 120124258 - 6480464 12477932;20205591;20379614;21890473 130355 C9JTA8;Q3KRA6 ABBA01045926;AC016736;AMYH01010987;BC047365;BC062434;BC105805;BC126395;BC126397;BC144012;BC144014;BC171737;CH471103;NM_001017927 AAH47365;AAI05806;AAI26396;AAI26398;AAI44013;AAI71737;ADR82800;EAW95213;NP_001017927;Q3KRA6 Hs.99488 1678093 RH48926 AIM29;MGC104437 OTTHUMP00000203619;OTTHUMP00000203620;OTTHUMP00000203621;OTTHUMP00000203622;UPF0538 protein C2orf76;hypothetical protein LOC130355 protein-coding ENSG00000186132 27017 18547 PREDICTED 1343619 C3CER1 chromosome 3 common eliminated region 1 9408748;10610706 23739 1320 2298832 C2orf80 chromosome 2 open reading frame 80 2 2 2 q34 202798308 202823009 - 208738316 208763018 - 209030071 209054773 - 22080834;12477932;20080650 389073 C9J2L1;C9J2S2;C9JAS9;C9JTX0;H7BZF5;H7C2Y3;Q0P641 ABBA01062701;ABBA01062702;ABBA01062703;ABBA01062704;AC016697;AMYH01011452;AW136505;BC035737;CH471063;DB541912;NM_001099334 AAH35737;EAW70436;NP_001092804;Q0P641 Hs.198416 OTTHUMP00000206606;OTTHUMP00000206607;OTTHUMP00000206674;hypothetical protein LOC389073;uncharacterized protein C2orf80 protein-coding ENSG00000188674 34352 VALIDATED 1606085 C2orf82 chromosome 2 open reading frame 82 2 2 2 q37.1 227499270 227505383 + 233443238 233449351 + 233734994 233741107 + 6480464 12975309;12477932;23453885 389084 C9K0N5;H7C356;Q6UX34 ABBA01002006;AC016692;AMYH01011571;AMYH01011572;AY358535;BC035093;BC049848;BC130307;BC130309;CH471063;NM_206895 AAI30308;AAI30310;AAQ88899;EAW71021;EAW71022;EAW71023;NP_996778;Q6UX34 Hs.657509 1690125;1715601 RH120944;RH94178 MGC163179;MGC163181;UNQ830 ASCL830;OTTHUMP00000164373;OTTHUMP00000203465;hypothetical protein LOC389084;uncharacterized protein C2orf82 protein-coding ENSG00000182600 33763 15620 PREDICTED 1604331 C2orf83 chromosome 2 open reading frame 83 2 2 2 q36.3 222244328 222267570 - 228183050 228206132 - 228474806 228498036 - 16381901;15489336;14702039;12477932;11230166;11076863;22610502 56918 Q53S99 ABBA01050181;AC064853;AK055355;AL359944;AMYH01011542;AMYH01011543;BC131618;CH471063;CR749679;NM_001162483;NM_020161 AAI31619;AAX93156;CAB95774;CAH18470;CAL38026;CAL38151;EAW70873;EAW70874;NP_001155955;NP_064546;Q53S99 Hs.283092 OTTHUMP00000204101;OTTHUMP00000204102;folate transporter-like protein C2orf83 protein-coding ENSG00000042304 25344 13208 VALIDATED 1347639 C3orf14 chromosome 3 open reading frame 14 3 3 3 p14.2 62322488 62336413 + 62280436 62294361 + 62305396 62319321 + 737633;6480464 12477932 15489334;10931946;17207965;20379614 57415 C9JY17;Q9HBI5 ABBA01024329;AC092502;AF236158;AK310431;AK313915;AMYH01013241;BC017772;CH471055;NM_020685 AAG09750;AAH17772;ADQ32108;BAG36637;EAW65400;EAW65401;EAW65402;NP_065736;Q9HBI5 Hs.47166 1660293;1779134 RH45851;SGC38115 HT021 OTTHUMP00000213295;OTTHUMP00000213296;OTTHUMP00000213297;OTTHUMP00000213298;hypothetical protein LOC57415;uncharacterized protein C3orf14 protein-coding ENSG00000114405 25024 12819 PREDICTED 1343802 C3orf18 chromosome 3 open reading frame 18 3 3 3 p21.3 50568268 50581264 - 50570466 50580186 - 50595456 50608458 - 737633;6480464 12477932 15489334;17207965;16344560;20205591 51161 C9IYC4;F8WCC4;Q9UK00 AA716515;AA908974;ABBA01024543;ABBA01024544;AC096920;AF188706;AK124438;AK130227;AK308074;AK309486;AK311093;AK313128;AL833938;AMYH01013175;BC034766;CH471055;DA504094;DA535127;DB027651;DB166816;NM_001171740;NM_001171741;NM_001171743;NM_016210 AAF01050;AAH34766;ADQ32861;BAC85307;BAG35948;BAG54038;CAD38793;EAW65122;EAW65123;EAW65124;NP_001165211;NP_001165212;NP_001165214;NP_057294;Q9UK00 Hs.517860 1735090;1852720;2130188;2139522;2143493 A003M37;D3S2773E;D3S2903E;G16541;RH15919 G20 OTTHUMP00000210812;OTTHUMP00000210813;OTTHUMP00000210815;OTTHUMP00000210817;OTTHUMP00000210818;hypothetical protein LOC51161;uncharacterized protein C3orf18 protein-coding ENSG00000088543 24837 16654 VALIDATED 1603406 C3orf27 chromosome 3 open reading frame 27 3 3 3 q21 126719455 126723541 - 129773533 129777619 - 128290843 128294929 - 15067727;9307271 23434 O15544 ABBA01020902;AC080005;AF008191;AF008192;AMYH01013464;CH471052;NM_007354 AAB65247;AAB65248;AAI40212;AAI46514;EAW79310;NP_031380;O15544 Hs.194283 2219100 GR6__6661 GR6 OTTHUMP00000216237;protein GR6;putative GR6 protein protein-coding ENSG00000198685 17099 13607 VALIDATED 1601946 C2orf88 chromosome 2 open reading frame 88 2 2 2 q32.2 184597431 184663252 + 190710731 190776455 + 191002486 191068210 + 6480464 23115245;16344560;16303743;16189514;12477932;17207965 84281 C9JS57;H7BZ15;P0C876;Q9BSF0 ABBA01062383;AC010679;AK075168;AK313395;AMYH01011345;BC005083;BU567236;BX648070;CH471058;DA247977;DA389238;NM_001042519;NM_001042520;NM_001042521;NM_032321 AAH05083;AAX93233;ADQ32431;BAG36193;EAX10878;EAX10879;NP_001035984;NP_001035985;NP_001035986;NP_115697;P0C876;Q9BSF0 Hs.389311 1686520;1686738;1721457;2114428;2137539;2183731 G59581;RH69372;RH93597;RH94194;SHGC-35899;WIAF-2135 MGC13057;smAKAP OTTHUMP00000205557;OTTHUMP00000205558;OTTHUMP00000205559;OTTHUMP00000205560;OTTHUMP00000205561;OTTHUMP00000205562;UPF0733 protein C2orf88;Uncharacterized protein FLJ90687;hypothetical protein LOC84281;small A-kinase anchoring protein;small membrane AKAP protein-coding ENSG00000187699 28191 14436 615117 VALIDATED 1343380 C3orf20 chromosome 3 open reading frame 20 3 3 3 p25.1 14654855 14752777 + 14691658 14789545 + 14716606 14814543 + 737633;6480464 12477932 11256614;16381901;15489336;15489334;11230166;11076863;16344560;20379614;21832049 84077 Q8ND61 ABBA01025153;ABBA01025154;AC090957;AK131481;AL136781;AL834386;AMYH01012996;AMYH01012997;BC030599;BC038406;BG718869;CH471055;DB064418;NM_001184957;NM_001184958;NM_032137 AAH30599;AAH38406;CAB66715;CAD39049;CAL37708;CAL37860;CAL38115;EAW64204;EAW64205;EAW64206;NP_001171886;NP_001171887;NP_115513;Q8ND61 Hs.661452 1775494;1956446;2164263;2185317 REN49088;RH16620;SHGC-33603;SHGC-76719 DKFZP434N1817 OTTHUMP00000208214;OTTHUMP00000208215;OTTHUMP00000208216;hypothetical protein LOC84077;uncharacterized protein C3orf20 protein-coding ENSG00000131379 25320 12821 VALIDATED 1353843 C3AR1 complement component 3a receptor 1 12 12 p13.31 8102186 8110222 - 8210919 8218955 - 1580863;5129690;5129559;5129512;5129702;5129564;5129560;5129561;5129686;5129688;5129681;6480464;6907045 16461429;15278436;15159277;21421909;17544263;15940127;20045013;17079327;20802484 21371235;8702752;10571060;8765043;8898085;19344414;19247692;19005416;18538384;17498719;17472841;17234193;16778800;15489334;15356170;15067069;15039137;12871936;12511407;12477932;11412308;11342658;11160252;11044372;10725738;10358194;10340761;9725198;9694514;9221749;8605247;8125298;20484595;18577758;21589858;22868393;21799898;15123239;22901903;23284683;23077507 719 A8K2H7;F5GZE6;Q16581 AB065870;ABBA01012236;AC006511;AK223388;AK290242;AK312458;AMYH01004224;AY268431;AY455929;BC020742;CH471116;NM_004054;U28488;U62027;Z73157 AAC50374;AAC50657;AAH20742;AAP23198;AAR13862;ABM82930;ABM86123;ABM87839;BAC06088;BAD97108;BAF82931;BAG35365;CAA97504;EAW88640;EAW88641;NP_004045;Q16581 Hs.591148 1795456;2132674;2139319;2184584 C3AR1_491;RH44757;STS-U28488;WI-18562 AZ3B;C3AR;HNFAG09 C3a anaphylatoxin chemotactic receptor;C3a-R;OTTHUMP00000239050;OTTHUMP00000239051;complement component 3 receptor 1 protein-coding ENSG00000171860 1319 05581 605246 VALIDATED 1352471 C3orf17 chromosome 3 open reading frame 17 3 3 3 q13.2 111129629 111146889 - 114203981 114221245 - 112721291 112738555 - 737633;6480464 12477932 16565220;15489334;14702039;19615732;19850743;21890473;21906983 25871 A8MVI8;C9J9E3;E9PFF8;F2Z3E4;F8WBQ8;F8WC60;F8WDL7;Q6NW34 ABBA01061657;AC074044;AK024325;AK092546;AK293218;AK295165;AK295954;AK300811;AK301161;AK304022;AK304083;AL117573;AL537045;AMYH01013392;BC014673;BC056663;BC067743;BM152568;CH471052;CR749341;NM_015412;NR_027794;NR_027796 AAH67743;ACE86517;ACE86712;ACE87196;ACE87397;BAB14885;BAG56757;BAG58177;BAG58735;BAG62467;BAG62751;BAG64937;BAG64990;CAB55998;CAH18194;EAW79648;EAW79649;EAW79650;EAW79651;NP_056227;Q6NW34 Hs.591288 1644847;1660120;1665440;1678227;1685017;1760177;1764659;1770445;2133559;2141812;2171570;2179022 Cda1ac05;RH44330;RH46087;RH65022;RH92227;SHGC-132456;SHGC-148248;SHGC-32187;SHGC-33071;SHGC-77207;SHGC-77208;WI-13462 DKFZp434F2021;NET17 OTTHUMP00000214707;OTTHUMP00000214708;hypothetical protein LOC25871;uncharacterized protein C3orf17 protein-coding ENSG00000163608 24496 08524 VALIDATED 735504 C3 complement component 3 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptible to bacterial infection. [provided by RefSeq, Feb 2009] 19 19 p13.3-p13.2 6628846 6671662 - 6677846 6720662 - 1600604;1580863;1580273;2314030;2314031;5129507;5129562;5130153;5130170;1600605;5130169;5129517;5129694;5129513;5129519;5129524;5129564;5129550;1582136;5129502;5129514;5129516;5129537;5129681;5129536;5129538;5129563;5129508;1600478;5129523;5129535;5129539;5129540;1599509;5129484;5129520;5129492;5129504;5129512;5129500;4142862;5129509;5129542;5129543;5130163;5129525;5129501;5129505;5129554;6480464;6907045;7175513;7175514;7175516;7175543;7175544;7183082;7183083;7175542;7240710 2212005;16367929;16488421;3253105;16186675;10886251;3826891;18648551;16996480;19050293;11591733;2784515;12235218;20589464;17345707;21421909;11950907;11560858;18069416;12196286;12096683;20402389;20802484;17981193;20395963;10729746;16014897;16751365;17956621;18052971;20109314;17114852;16677633;20510197;18256172;21408070;17975205;15278436;19472039;19258923;15972516;14577867;14561876;20405;17169032;18566738;16355111;11532096;22320401;22103620;22863782;11287758;21888025;19200691;10955930;17960140 20453728;11854358;8406564;21801245;18054386;18039528;17984207;17767156;17762737;17703412;17684013;17634448;17520688;17502296;17498719;17482181;17372315;17322907;17172439;17060630;17051160;17051152;17051150;16893076;16889542;16823297;16809564;16670774;16627066;16570073;16516157;16449793;16339538;16335952;16301317;16263699;16199891;16177781;16148107;15872081;16148115;15833747;15810889;15749882;15713468;15713467;15648851;15590640;15489226;15383607;15381670;15342556;15241561;15187133;15090635;15033778;14760718;14702039;14662858;14639503;14563826;14527961;12967641;12942785;12893820;12816955;12761187;12754519;12679444;12645945;12511407;12477932;12165538;12006395;11979403;11939578;11896391;9164946;162484;10085065;279011;3052276;6912277;12878586;15199963;19559392;19505474;19457998;19454698;19407382;19399715;19387462;19344414;19336475;19328844;19265162;19263529;19259132;19247692;19246358;19234341;19225544;19202148;19196712;19179465;19168221;19164292;19131662;19112495;19048105;19028829;19028820;19022911;19017934;19015224;19005416;18974840;18936151;18854167;18805911;18802120;18796626;18760301;18755462;18702682;18694577;18682851;18671285;18631248;18596911;18585783;18572187;18562603;18562232;18456336;18434316;18383369;18356838;18325906;18253759;18247123;18206145;18174230;18061265;21665990;11813855;11803045;11785295;11773063;11684127;11513971;11387479;11367533;11342658;11086104;11073102;11058592;10946275;10882776;10622723;10610782;10608878;10382758;10358196;10079271;10078261;9988761;9719152;9605165;9596584;9291131;8943712;8845016;8702752;8648130;8416818;10432298;12540846;22635230;9555951;7539791;7512600;6203109;6175959;4097977;4062888;3871945;3546307;3488995;3421908;3279119;3260670;2824652;2584723;2579379;2473125;2387584;1976733;1861080;1830068;1717583;1703437;1577777;1531292;1401896;1350678;1323007;1238393;695691;7893437;8630395;8471312;9544576;7535292;7911492;7642209;7590866;11884542;7961791;23628799;21527715;21404895;20817881;21402993;20385826;20173020;20089077;20188594;20951140;20926033;21205667;20861866;20862287;20888482;20841369;20498262;22234447;22390383;19913121;20576771;20603037;20628086;20628624;20664795;16452172;16530040;18039777;19117936;19423540;19503104;19549636;19590060;19661236;19665237;19670317;19680263;19694644;19703145;19767107;19773279;19797206;19823576;19825847;19828715;19834535;19843088;19850835;19861685;19899988;19913840;19939777;19948975;20091675;20104494;20105310;20139276;20139773;20157618;20237496;20238042;20378178;20379614;20381870;20385819;20406964;20438785;20503287;20513133;20523265;20105190;20644161;20852386;20837143;21163532;21462136;21270401;20706769;20807366;21085669;21788512;21435440;22792353;23071281;22851413;21658310;21308746;21813769;21415311;21501302;21642543;22264230;22718507;22930722;23337555;21555552;21566112;21733505;22007489;22228414;22273503;19878567;21706294;22669319;22132894;22553783;22705344;22089112;22138144;22153860;22361228;22542119;20639865;21055811;21816153;21966368;23390291;22246034;22258234;22393059;22174912;23455636;22145905;22194611;22250080;22171262;22415003;20301541;21414106;22176838;22324951;20926148;21464960;21664558;21953030;22518841;22996269;23056509;23068452;23028341;23209669;23285141;23537682;21988832;22878256;23031360;23098807;23134230;23206327;23619360;23750785;23235567;23365660;22253322;9059512;22909298;23233260 718 M0QXZ3;M0QYC8;M0R0Q9;M0R1Q1;P01024 ABBA01051470;ABBA01051471;ABBA01051472;ABBA01051473;ABBA01051474;AC008760;AI758500;AK094728;AK304071;AMYH01009377;AY513239;BC022897;BC063852;BC150179;BC150200;BC150299;BP201387;BP349355;CH471139;CQ985770;J04763;K02765;M55658;M63423;NG_009557;NM_000064 AAA35722;AAA85332;AAI50180;AAI50201;AAR89906;BAG64978;CAI46844;EAW69070;EAW69071;NP_000055;P01024 Hs.529053 1649693;1679283;1741127;2136247;2138189 GDB:177904;RH11718;RH45403;RH80210;SGC31874 AHUS5;ARMD9;ASP;C3a;C3b;CPAMD1 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1;C3a anaphylatoxin;OTTHUMP00000197086;acylation-stimulating protein cleavage product;complement C3;complement component C3;complement component C3a;complement component C3b;prepro-C3 APPROVED protein-coding ENSG00000125730 1318 00400 120700;611378;612925;613779 REVIEWED 1606145 C3orf30 chromosome 3 open reading frame 30 3 3 3 q13.32 117273489 117278794 + 120347687 120352992 + 118864997 118870302 + 14702039;12477932;19821082 152405 E9PFE5;H7C4V1;H7C564;H7C5E0;Q96M34 ABBA01061587;AC083800;AK057421;AMYH01013417;BC130475;BC144197;CH471052;DW009752;NM_152539 AAI30476;AAI44198;BAB71478;EAW79578;NP_689752;Q96M34 Hs.730099 FLJ32859;TSCPA OTTHUMP00000214992;OTTHUMP00000214993;OTTHUMP00000214995;OTTHUMP00000214997;hypothetical protein LOC152405;uncharacterized protein C3orf30 protein-coding ENSG00000163424 26553 08146 VALIDATED 1603560 C3orf22 chromosome 3 open reading frame 22 3 3 3 q21.3 124693189 124702399 - 127751209 127760448 - 126268519 126277758 - 6480464 15489334;14702039;12477932 152065 B3KUS9;Q8N5N4 ABBA01016386;AC024558;AK097841;AMYH01013450;BC032025;CH471052;HC007152;NM_152533 AAH32025;BAG53541;CBH19381;EAW79358;NP_689746;Q8N5N4 Hs.178210 1683465 RH92341 MGC34728 OTTHUMP00000222592;hypothetical protein LOC152065;uncharacterized protein C3orf22 protein-coding ENSG00000180697 28534 14585 PREDICTED 1605538 C3orf35 chromosome 3 open reading frame 35 3 3 3 p22.2 37374537 37410558 + 37415972 37451992 + 37440968 37476988 + 6480464 16344560;16187228;15208675;12771950;12543795;12477932 339883 Q8IVJ6;Q8IVJ8 ABBA01024844;AC092055;AC136290;AJ493599;AJ493600;AJ493601;AJ493602;AJ493603;AJ493604;AJ493605;AMYH01013087;BC100859;BC100860;BC100861;BC100862;BC112433;BC113895;BC132691;BC133024;BC144376;BC144377;CH471055;DB349441;NM_178339;NM_178342 AAI32692;AAI33025;AAI44377;AAI44378;ADR83466;CAD42702;CAD42703;CAD42704;CAD42705;CAD42706;CAD42707;CAD42708;EAW64498;EAW64499;EAW64500;NP_848029;NP_848032;Q8IVJ8 Hs.475945 1337145;1646653;1658936;1665131;2124768;2135949;2166967;5022651 A003B17;D11S2921;D3S2885E;D3S3623;D3S4247;NIB1520;SHGC-76828;WI-18659 APRG1 AP20 region protein 1;AP20 region protein1;OTTHUMP00000208938;OTTHUMP00000208939;OTTHUMP00000208941;OTTHUMP00000208942 protein-coding ENSG00000198590 24082 16502 611429 VALIDATED 1605242 C3orf33 chromosome 3 open reading frame 33 3 3 3 q25.31 153901052 153944745 - 156963095 157006749 - 155480401 155524055 - 6480464 15489334;14702039;12477932;18487146;20515784;20680465;21832049;19322201 285315 F8WCI5;F8WDI1;H7C4I0;Q6P1S2 ABBA01058854;AC104472;AF115515;AK055701;AK289890;AL832165;AMYH01013595;AMYH01013596;BC042198;BC064898;CH471052;NM_173657 AAH42198;AAH64898;AAO06952;BAB70989;BAF82579;EAW78745;EAW78746;NP_775928;Q6P1S2 Hs.350846 5014563;5015961;5022200;5022322;5037552 D11S2560;D15S1477;D8S2279;L17676;L18426 AC3-33;FLJ31139 AP-1 activity suppressor;OTTHUMP00000212995;hypothetical protein LOC285315;uncharacterized protein C3orf33 protein-coding ENSG00000174928 26434 08095 PROVISIONAL 1602414 C3orf53 chromosome 3 open reading frame 53 3 p24.1 28591929 28592915 - 14702039 285322 Q8N290 AC109586;AK090970;XM_928239 BAC03560;Q8N290;XP_933332 Hs.376725 FLJ33651 protein-coding 26589 08162 1602212 C3orf36 chromosome 3 open reading frame 36 3 3 3 q22.1 132072844 132074511 - 135129679 135131346 - 133646989 133648656 - 6480464 15489334;14702039;12477932;21832049 80111 Q3SXR2 ABBA01059163;AC080128;AK025826;AK225383;AMYH01013511;BC051274;BC064502;BC082257;BC104161;BC104162;CH471052;NM_025041 AAI04162;AAI04163;BAB15249;EAW79157;NP_079317;Q3SXR2 Hs.287691 5493499 UniSTS:486865 FLJ22173;MGC125760;MGC125761 hypothetical protein LOC80111;uncharacterized protein C3orf36 protein-coding ENSG00000221972 26170 07981 VALIDATED 1602632 C3orf38 chromosome 3 open reading frame 38 3 3 3 p11.1 88952867 88961107 + 88281799 88288758 + 88198893 88207115 + 6480464 15489334;12477932;21177773;21139048;21906983;22505724 285237 E9PFZ1;Q5JPI3 ABBA01004634;AC128650;AK297719;AK313547;AL832398;AMYH01013325;BC016013;BC024188;CH471110;NM_173824 AAH24188;ADZ15889;BAG36323;BAG60073;CAI46184;EAW68858;EAW68859;EAW68860;NP_776185;Q5JPI3 Hs.476944;Hs.518099 1690920;5015861;5037552;7185938 D10S16;D8S2279;RH92935 FLJ54270;MGC26717 OTTHUMP00000208594;OTTHUMP00000214138;hypothetical protein LOC285237;uncharacterized protein C3orf38 protein-coding ENSG00000179021 28384 14509 VALIDATED 1604329 C3orf37 chromosome 3 open reading frame 37 3 3 3 q21.3 127428466 127455235 + 130480374 130506826 + 128997684 129024136 + 6480464 15489334;12477932;9110174;8889548;8619474;21832049;19471022;19953087;21693764;21890473;21906983;21963094;22505724 56941 D6R9T3;D6RAI0;D6RAZ3;D6RGK7;E7EMP6;Q96FZ2 ABBA01020934;ABBA01020935;AC137695;AF201934;AK025883;AK225264;AK297501;AK309891;AMYH01013475;AY007144;BC009993;BC010125;BC050686;BC088363;BU728549;CH471052;NM_001006109;NM_020187 AAF86870;AAH09993;AAH10125;AAH50686;AAH88363;ABM84010;ABM87350;BAG59914;EAW79265;EAW79266;NP_001006109;NP_064572;Q96FZ2 Hs.458320 1647985;1678533;1854077;2149065;2155005;2160648 A002R07;D3S3816;DBEST27818;HSC2JD062;RH98834;SHGC-4168 DC12;MGC111075 OTTHUMP00000215384;OTTHUMP00000215385;OTTHUMP00000215386;OTTHUMP00000215387;OTTHUMP00000215388;OTTHUMP00000215392;UPF0361 protein C3orf37;chromosome 3 open reading frame 37 protein-coding ENSG00000183624 24446 13119 VALIDATED 1604495 C3orf43 chromosome 3 open reading frame 43 3 3 3 q29 194816034 194824582 - 197718147 197726634 - 196233750 196242237 - 15489334;12477932 255798 F8WEP5;Q147U7 ABBA01033741;ABBA01033742;ABBA01033743;AC092933;AK123917;AK291522;AL833140;AL833443;AMYH01013794;BC118556;BC118636;NM_001077657 AAI18557;AAI18637;BAF84211;BAG53982;NP_001071125;Q147U7 Hs.631933 2153866 RH41804 DKFZp313B0440;FLJ41923;MGC141734;MGC141735;SMCO1 OTTHUMP00000208310;hypothetical protein LOC255798;single-pass membrane and coiled-coil domain-containing protein 1;single-pass membrane protein with coiled-coil domains 1;uncharacterized protein C3orf43 protein-coding ENSG00000214097 27407 VALIDATED 1602072 C3orf49 chromosome 3 open reading frame 49 3 3 3 p14.1 63821801 63851073 + 63775826 63809352 + 63805041 63834312 + 15489334;15203218;12477932 132200 Q96BT1 ABBA01024315;AC104162;AMYH01013247;BC015210;CD636567;NR_026866 Q96BT1 Hs.506386 1653081 SHGC-77029 MGC17310 miscrna ENSG00000163632 25190 VALIDATED 1601717 C3orf55 chromosome 3 open reading frame 55 3 3 3 q25.32 155684834 155742697 + 158743860 158779237 + 157261133 157319022 + 6480464 12477932;8889549;11329013 152078 A1A4F0;C9J2K9;C9JRW5 AA131625;ABBA01058828;ABBA01058829;AC084212;AI377021;AMYH01013603;AMYH01013604;AW151487;BC010062;BC029129;BC126187;BC126189;BC144066;BE905784;BG209594;BG217991;BX113701;CH471052;NM_001099777;NM_001130001;NM_001130002;NM_001243729;NR_024016 A1A4F0;AAH29129;AAI26188;AAI26190;ADR82799;EAW78701;EAW78702;NP_001093247;NP_001123473;NP_001123474;NP_001230658 Hs.259046 1852808 RH48081 OTTHUMP00000213373;OTTHUMP00000213374;OTTHUMP00000213375;OTTHUMP00000213376;putative uncharacterized protein C3orf55 protein-coding ENSG00000174899 25146 VALIDATED 1606226 C3orf52 chromosome 3 open reading frame 52 3 3 3 q13.2 110204266 110236149 + 113287929 113319734 + 111805182 111837073 + 6480464 16344560;15737651;15489334;14702039;12477932;19322201 79669 H7C5J7;Q5BVD1 AA215562;ABBA01061667;ABBA01061668;AC024887;AC128688;AK026839;AK298076;AK303588;AMYH01013389;AY830714;BC017064;BX104180;CH471052;DB159226;NM_001171747;NM_024616 AAH17064;AAX21411;ADZ16001;BAB15569;BAG60364;BAG64604;EAW79681;NP_001165218;NP_078892;Q5BVD1 Hs.434247 1658836;1675618 RH93661;SHGC-59894 FLJ23186;TTMP OTTHUMP00000214424;OTTHUMP00000214425;TPA induced trans-membrane protein;TPA-induced transmembrane protein;novel endoplasmic reticulum transmembrane protein protein-coding ENSG00000114529 26255 08018 611956 VALIDATED 1602415 C3orf56 chromosome 3 open reading frame 56 3 3 q21.3 128394664 128399715 + 126911974 126917025 + 14702039;12477932 285311 Q8N813 ABBA01020875;AC112482;AK097460;AMYH01013452;BC137154;BC137155;HC044771;NM_001007534;XR_108480;XR_112539;XR_171405 AAI37155;AAI37156;BAC05062;CBH30715;NP_001007535;Q8N813 Hs.591284 FLJ40141 putative uncharacterized protein C3orf56 protein-coding ENSG00000214324 32481 16949 VALIDATED 2298743 C3orf72 chromosome 3 open reading frame 72 3 3 3 q22.3 137092546 137099300 + 140148766 140155520 + 138666076 138672830 + 401089 F8WBY5;Q6ZUU3 ABBA01059072;AC092947;AC130416;AK125319;AK304483;AMYH01013536;NG_029796;NM_001040061 BAC86125;BAH14198;NP_001035150;Q6ZUU3 Hs.591303 2218710 UniSTS:463206 FLJ52231 FLJ43329 protein;OTTHUMP00000216880;chromosome 3 open reading frame 72;uncharacterized protein C3orf72 protein-coding ENSG00000206262 34428 VALIDATED 3234336 C3orf79 chromosome 3 open reading frame 79 3 3 3 q25.2 151619934 151638137 + 154684974 154703176 + 153202284 153220486 + 152118 P0CE67 ABBA01058876;AC078788;AF086445;AMYH01013589;CH471052;NM_001101337 EAW78768;NP_001094807;P0CE67 Hs.58586 OTTHUMP00000216027;putative uncharacterized protein C3orf79 protein-coding ENSG00000237787 37259 PREDICTED 1605264 C3orf67 chromosome 3 open reading frame 67 3 3 3 p14.2 58741188 59049142 - 58702777 59010755 - 58727737 59035715 - 12477932;20379614 200844 C9IYJ1;C9J3M8;C9J8V2;F5H9F7;F8WF72;H0Y8H3;H7C4Q4;H7C4R0;H7C586;H7C5H9;Q6ZVT6 ABBA01024373;ABBA01024374;ABBA01024375;AC104300;AC104303;AC119424;AK124111;AK124920;AK128200;AK296111;AMYH01013231;BC050317;BC075863;BC132815;BC140002;BC151142;CH471055;NM_198463 AAH50317;AAI32816;AAI51143;BAC85775;BAC85994;BAG58860;EAW65383;EAW65384;EAW65385;EAW65386;EAW65387;EAW65388;EAW65389;EAW65390;EAW65391;NP_940865;Q6ZVT6 Hs.368434 1338562;1646986;1651097;1667863;1679289;1695798;1697350;1715241;1726589;1731293;5014051 D3S1450;D3S1766;D3S3040;D8S2278;G62527;RH102173;RH119871;RH93562;SHGC-14756;SHGC-31910;SHGC-82555 FLJ42117;FLJ42930;MGC48416 OTTHUMP00000214186;OTTHUMP00000214328;hypothetical protein LOC200844;uncharacterized protein C3orf67 protein-coding ENSG00000163689 24763 13458 VALIDATED 2301260 C3orf73 chromosome 3 open reading frame 73 3 q21.3 130197985 130234686 + 16641997;15489334 729581 AC112484;XM_001130148;XM_001130701;XM_001714569 A8MYE2;XP_001130148;XP_001130701;XP_001714621 Hs.134807 protein-coding 34529 1602599 C3orf65 chromosome 3 open reading frame 65 3 3 3 q27.2 183868956 183873871 + 186913774 186918649 + 185431040 185435955 + 14702039;12477932 646600 F8WDD8;Q96M15 ABBA01058406;AC016961;AC108670;AK057462;AMYH01013729;BC039525;BC041450;BC137313;BC137314;CH471052;NG_011602;NR_027317 BAB71499;EAW78212;Q96M15 Hs.647949;Hs.737101 FLJ32900 miscrna ENSG00000163915 32674 VALIDATED 1605238 C3orf70 chromosome 3 open reading frame 70 3 3 3 q27.2 183242851 183317793 - 186278532 186353496 - 184795838 184870802 - 6480464 12477932;21042317 285382 A6NLC5 ABBA01058429;AC007934;AC025573;AMYH01013726;AMYH01013727;BC137178;BC137179;BC150565;CH471052;NM_001025266 A6NLC5;AAI37179;AAI37180;AAI50566;EAW78232;NP_001020437 Hs.380048 1650295;1715631;5020988;5037552 D22S958;D8S2279;RH119259;SHGC-77613 OTTHUMP00000210414;UPF0524 protein C3orf70;hypothetical protein LOC285382 protein-coding ENSG00000187068 33731 18774 PREDICTED 7207322 C4B_2 complement component 4B (Chido blood group), copy 2 This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011] 10207042;12224044;12226794;17503323;18032375;19505723;20795316;2431902;2883116;6546707 100293534 Q96SA7 BX679671;NM_001242823 NP_001229752 Hs.534847 1648514;1712246;1745799;1769516;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623 complement C4-B-like protein-coding 42398 REVIEWED 1602042 C3orf62 chromosome 3 open reading frame 62 3 3 3 p21.31 49269717 49277952 - 49281223 49289456 - 49306030 49314508 - 6480464 15489334;14702039;12477932;17207965;21832049 375341 C9JW57;H7BZX3;Q6ZUJ4 ABBA01024601;AC121247;AK056215;AK096799;AK125642;AMYH01013156;BC023586;BC032616;BC053629;BC061697;CH471055;NM_198562 AAH23586;AAH53629;AAH61697;ADQ32598;BAC86231;EAW64967;NP_940964;Q6ZUJ4 Hs.403828 1672246;1857714;2108983;2116986;2119674;2151369;2168751;2170375;5014019;5015961 D15S1477;D5S2354;RH18550;RH41918;RH45172;SGC32571;SHGC-31529;SHGC-57032;STS-U20657;USP4_8707 FLJ43654;MGC23381;MGC61663;MGC62079 OTTHUMP00000210683;OTTHUMP00000210721;hypothetical protein LOC375341;uncharacterized protein C3orf62 protein-coding 24771 13475 VALIDATED 1603352 C3orf58 chromosome 3 open reading frame 58 3 3 3 q24 142113447 142133972 + 145173603 145193895 + 143690640 143711210 + 6480464 17207965;21264219;16344560;15489334;14702039;12477932;8889548;18651652;23784961;21283809 205428 B3KTD4;C9JY09;E7ET39;Q8NDZ4 ABBA01059010;ABBA01059011;AC117379;AK025119;AK095063;AK095161;AK095400;AK294020;AK315082;AL832839;AMYH01013554;BC037293;BM968874;CH471052;DA760601;DB067725;DC310234;DC310421;NM_001134470;NM_173552 AAH37293;ADQ31743;BAG37549;BAG52997;BAG53046;BAH11649;EAW78946;EAW78947;EAW78948;NP_001127942;NP_775823;Q8NDZ4 Hs.288954 DIA1;HASF;MGC33365 Golgi protein GoPro49;OTTHUMP00000215115;OTTHUMP00000215116;UPF0672 protein C3orf58;deleted in autism 1;deleted in autism protein 1 protein-coding ENSG00000181744 28490 14559 612200 VALIDATED 1342759 C4BPAP1 complement component 4 binding protein, alpha pseudogene 1 1 1 1 q32.2 180591424 180609988 + 205405463 205424029 + 207338840 207357406 + 8406448;2352933 727859 ABBA01048247;AL445493;AMYH01001680;NG_006475 1750629 SHGC-111938 C4BPAL1 APPROVED pseudo 1326 INFERRED 1345971 C4BPAP2 complement component 4 binding protein, alpha pseudogene 2 1 1 1 q32 180651731 180655135 + 205468269 205468468 + 207399143 207402547 + 7806286 724 ABBA01048247;AL596218;AMYH01001680;NG_002761;X81360;X81361;X81362 C4BPAL2 APPROVED pseudo 1327 INFERRED 5486719 C3orf80 chromosome 3 open reading frame 80 3 3 q25.33 161425777 161428694 + 159943423 159946000 + 11181995;12477932 401097 F5H4A9 ABBA01058798;ABBA01058799;AC112641;AMYH01013614;BC031660;CH471052;NM_001168214 AAH31660;EAW78649;F5H4A9;NP_001161686 Hs.729755 hypothetical protein LOC401097;uncharacterized membrane protein C3orf80 protein-coding ENSG00000180044 40048 VALIDATED 1603837 C3P1 complement component 3 precursor pseudogene 19 19 19 p13.2 10047526 10080306 + 10013032 10045811 + 10152032 10184814 + 6480464 15060002;12477932;11752456;16712791 388503 Q6ZMU1 ABBA01029950;ABBA01029951;ABBA01029952;AC020931;AK131489;AMYH01009466;AMYH01009467;AW827199;CB162385;CH471106;DT932550;NR_027300 BAD18634;EAW84063;EAW84064;EAW84065;Q6ZMU1 Hs.655363 1716345;2154875 RH121350;SGC33001 CPLP pseudo ENSG00000167798 34414 18382 VALIDATED 1350864 C4A complement component 4A (Rodgers blood group) This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 p21.3 32090549 32111173 + 31949834 31970457 + 5688253;5688260;5688264;5688259;5688262;5688255;6480464;6907045;7240710 21913394;17503323;21943165;19150565;16879240;21809649 21801245;22387014;22297669;162484;6019133;12878586;15199963;19167759;19137635;19062096;19035512;19028829;18636124;18360261;18069935;18058064;18054386;17921792;17728371;17257223;17212707;16908004;16893076;16439442;16335952;16098595;15998580;15794202;15787745;15166556;15039137;14760718;14574404;12894949;12754519;12480675;12477932;12367531;12226794;12224044;12133986;11803045;11367523;11168010;10529130;10092831;10072631;9725198;8660986;8589688;8473511;8422437;8132574;8012361;7545960;7518568;6978711;6950384;6881182;6832377;6577433;6572000;6559257;6546707;6316164;6167582;3944109;3838531;3696167;3542363;3264881;2883116;2612324;2431902;2304899;1988494;1699796;1573268;11773063;23592783;20795316;20498262;21164027;20936779;20409594;7391573;17971360;18091514;19135723;19665237;19923011;20139276;20346360;20506482;19913121;20628086;22406254;20649895;21085669;21345967;22151770;22737222;22949645;21677994;21857912;23335107;15174051;22616691;22886582;22052466;21904924;23028341;23031360;22837109;23750785;22785613 720 B0UZ83;B4DDH0;F5H2J9;Q6U2F8 AB209989;ABBA01038101;AI065121;AK293191;AK293364;AL645922;AL844853;AL929593;AMYH01016223;AMYH01016224;AMYH01016225;AY224378;AY379864;AY379866;AY379880;AY379881;AY379882;AY379883;AY379885;AY379887;AY379888;AY379889;AY379890;AY379891;AY379892;AY379893;AY379894;AY379895;AY379896;AY379897;AY379898;AY379899;AY379900;AY379902;AY379904;AY379906;AY379908;AY379912;AY379913;AY379914;AY379915;AY379916;AY379917;AY379918;AY379919;AY379920;AY379921;AY379922;AY379923;AY379928;AY379929;AY379930;AY379931;AY379932;AY379933;AY379934;AY379935;AY379960;AY379961;AY379962;AY379963;AY379964;AY379965;AY379966;AY379967;AY379968;AY379969;AY379970;AY379971;BC012372;BC016933;BC063289;BC144546;BC146673;BC146849;BC151204;BC171786;BX452374;CR753845;CR936924;K00830;K02403;L26261;M14823;M14824;M59815;M59816;NG_011638;NM_001252204;NM_007293;S58715;S81585;U07851;U07852;U07853;U07855;V00502;X77491;XM_003960046;XM_003960047 AAA20121;AAA35617;AAA36229;AAA51855;AAA52292;AAB26211;AAB36122;AAB59537;AAB63418;AAB63419;AAB63420;AAB63422;AAH12372;AAH63289;AAI44547;AAI46674;AAI46850;AAI51205;AAI71786;AAP83249;AAR89091;AAR89093;AAR89107;AAR89108;AAR89109;AAR89110;AAR89112;AAR89114;AAR89115;AAR89116;AAR89117;AAR89118;AAR89119;AAR89120;AAR89121;AAR89122;AAR89123;AAR89124;AAR89125;AAR89126;AAR89127;AAR89130;AAR89132;AAR89134;AAR89136;AAR89139;AAR89140;AAR89141;AAR89142;AAR89143;AAR89144;AAR89145;AAR89146;AAR89147;AAR89148;AAR89149;AAR89150;AAR89155;AAR89156;AAR89157;AAR89158;AAR89159;AAR89160;AAR89161;AAR89162;AAR89164;AAR89165;AAR89166;AAR89167;AAR89168;AAR89169;AAR89170;AAR89171;AAR89172;AAR89173;AAR89174;AAR89175;BAE06071;BAG56731;BAH11494;CAA23760;CAA54627;NP_001239133;NP_009224;P0C0L4;XP_003960095;XP_003960096 Hs.534847;Hs.720022 1648514;1712246;1745799;1769516;2106659;2121053;2143466;5127416 G54031;GDB:642029;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340 C4;C4A2;C4A3;C4A4;C4A6;C4AD;C4S;CO4;CPAMD2;MGC164979;RG C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2;C4A anaphylatoxin;OTTHUMP00000029266;OTTHUMP00000216221;Rodgers form of C4;acidic C4;acidic complement C4;complement C4-A;complement component 4a APPROVED protein-coding ENSG00000244731 1323 00401 120810;152700;614374;614380 REVIEWED 1605129 C4B complement component 4B (Chido blood group) This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008] 6 6 p21.3 32057813 32078435 + 31982572 32003195 + 5688253;5688257;5688260;5688264;5688263;5688259;5688256;5688255;6480464;6907045 21913394;20452682;17503323;21943165;22076784;19150565;21445879;21809649 22169613;21967755;22387014;22393059;19167759;19137635;19062096;18929826;18927458;18682851;18645500;18365397;18360261;18347532;18315707;18179706;18085389;18065805;18032375;17984207;17921792;17915330;17728371;17425651;17318071;17257223;17212707;17202363;17015733;16980082;16908004;16893076;16889542;16740002;16504674;16386506;16344560;16098595;15998580;15816885;15787745;15665772;15456488;15203218;15096498;15033778;14989716;14760718;14574404;12907438;12893820;12754519;12480675;12477932;12226794;12224044;11803045;11367523;11341920;11168010;11062289;10946278;10851272;10528211;10383431;10207042;10072631;9759862;8889548;8660986;8575831;8132574;7545960;7525470;6978711;6950384;6881182;6832377;6559257;6546707;6167582;3944109;3840370;3696167;3542363;2883116;2431902;2295627;1988494;1717583;1699796;1088823;7893437;8630395;7911492;7642209;7590866;17971360;18091514;19135723;19505723;19900552;20139276;20506482;20795316;20022265;20580617;7391573;12878586;19913121;20628086;21345967;21085669;23006730;21642539;22151770;22737222;21620080;22132894;21857912;23199209;22841245;22878256;23274969;23026593;22785613 721 B4DDH0;F5GXS0;Q6U2F8;Q96SA7 ABBA01138727;AF019413;AF092085;AK304564;AL049547;AL645922;AL662849;AL929593;AY343497;AY379860;AY379861;AY379862;AY379863;AY379865;AY379867;AY379868;AY379869;AY379870;AY379871;AY379872;AY379873;AY379874;AY379875;AY379876;AY379877;AY379878;AY379879;AY379884;AY379886;AY379901;AY379903;AY379905;AY379907;AY379909;AY379910;AY379911;AY379924;AY379925;AY379926;AY379927;AY379959;BM672834;BQ960796;BX679671;CD624022;CR753845;DA395398;DA918359;K02404;NG_011639;NM_001002029;U24578;U77886;U77887 AAA59651;AAA99717;AAB67980;AAC98380;AAI72377;AAK49810;AAK49811;AAQ99144;AAR89087;AAR89088;AAR89089;AAR89090;AAR89092;AAR89094;AAR89095;AAR89096;AAR89097;AAR89098;AAR89099;AAR89100;AAR89101;AAR89102;AAR89103;AAR89104;AAR89105;AAR89106;AAR89111;AAR89113;AAR89128;AAR89129;AAR89131;AAR89133;AAR89135;AAR89137;AAR89138;AAR89151;AAR89152;AAR89153;AAR89154;AAR89163;BAG65356;CAB89302;NP_001002029;P0C0L5 Hs.534847;Hs.720022 1648514;1678425;1712246;1745799;1769516;1797462;2106223;2106659;2121053;2137309;2143466;2157927;5127416 CYP21A2_2362;G29213;G54031;GDB:642029;N3_3_2;RH11436;RH1519;RH36425;RH46798;SHGC-12566;SHGC-31623;STK19__5340;WI-7720 C4B1;C4B12;C4B2;C4B3;C4B5;C4BD;C4B_2;C4F;CH;CO4;CPAMD3;FLJ60561;MGC164979 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3;Chido form of C4;OTTHUMP00000029269;basic C4;basic complement C4;complement C4-B;complement C4B1a APPROVED protein-coding ENSG00000224389 1324 00402;18631 120820;614379 REVIEWED 736103 C4BPA complement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008] 1 1 q32 205344230 205384940 + 207277607 207318317 + 1580863;5129484;6480464;6907045 20510197 16330538;18029348;14718574;19344414;19155499;19076829;18842294;18715646;18556068;18424762;18406463;17579075;17548110;16819837;16335952;15489334;15188402;15179322;12893820;12477932;12135356;11705989;11441101;10383431;9089100;8406448;7806286;7772049;7592941;6222381;4033666;3840370;3378624;3017751;2590215;2352933;2237642;1989602;1833851;12100475;10744423;1534488;9628846;20532227;17225862;19417080;19423540;19494311;20022381;20059470;20212171;20237496;20406964;20438785;21262398;22732096;22925928;21988832;23274142;23390292;21659506;22333221;21915248 722 A6PVY5;F2Z2V7;P04003;Q5VVQ8 ABBA01048247;AK303793;AK303798;AK313164;AL445493;AMYH01001680;BC022312;BQ019292;CH471100;M31452;M62448;M62486;NG_029579;NM_000715;X02865;X04284;X04296;X07853 AAA36506;AAA36507;AAH22312;ABM82947;ABM86139;BAG35982;BAG64750;BAG64753;CAA26617;CAA27839;CAA30701;CAB51244;EAW93500;EAW93501;EAW93502;EAW93503;NP_000706;P04003 Hs.1012 1644105;1692290;1760241;2113122;2167273;2187286;2217088 AL034030;C4BPA_2902;D1S3036;D1S3704;SHGC-132542;SHGC-35696;SHGC-76272 C4BP;PRP C4b binding protein, alpha chain;C4b-binding protein alpha chain;OTTHUMP00000034376;complement component 4 binding protein, alpha chain;complement component 4-binding protein, alpha;proline-rich protein APPROVED protein-coding ENSG00000123838 1325 00403 120830 REVIEWED 1602474 C4orf19 chromosome 4 open reading frame 19 4 4 4 p14 37895413 38034606 + 37131947 37271527 + 37455552 37595132 + 6480464 16344560;15342556;14702039;12477932;8125298;20379614;20802204 55286 D6RFF1;Q8IY42 ABBA01074302;ABBA01074303;ABBA01074304;ABBA01074305;ABBA01074306;ABBA01074307;ABBA01074308;AC022463;AC027607;AI050941;AK001879;AK225192;AMYH01014111;BC037906;BP220791;CF995148;CH471069;DA684897;NM_001104629;NM_018302 AAH37906;BAA91958;EAW92882;EAW92883;NP_001098099;NP_060772;Q8IY42 Hs.107527 1716467;1750613;2118437;2132421;2137939;2141024 D4S2544E;D4S745;RH121413;SHGC-111906;SHGC-59841;SHGC-67963 FLJ11017 OTTHUMP00000158731;OTTHUMP00000158732;hypothetical protein LOC55286;uncharacterized protein C4orf19 protein-coding 25618 07725 VALIDATED 736875 C4BPB complement component 4 binding protein, beta This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 q32 205328835 205339961 + 207262212 207273338 + 1580863;6480464;6484113;6907045 8325877;14718574;19344414;19284503;18842294;17597997;16710414;16335952;16330538;15967823;15489334;15179322;14702039;12492479;12477932;12193728;9089100;8598458;7561113;2970465;2300577;2237642;19423540;19494311;20212171;20237496;20379614;20406964;20438785;20693287;21856004;21963094;23390292;22514678 725 E7EQT9;P20851;Q5VVQ7 ABBA01048247;AK092427;AK293379;AK315137;AL445493;AMYH01001680;BC005378;BG568018;BM987840;CH471100;EF613556;H63461;L11245;L11246;M29964;NG_029386;NM_000716;NM_001017364;NM_001017365;NM_001017366;NM_001017367;U31765 AAA35616;AAB59520;AAH05378;ABQ52216;ADZ15873;BAG56891;EAW93504;EAW93505;EAW93506;NP_000707;NP_001017364;NP_001017365;NP_001017366;NP_001017367;P20851 Hs.99886 1687630;1742401;2163927;2169990;2180368;2186392;5019759;5037552;5106339;5121082 A009P34;D1S3277;D8S2279;G32746;GDB:196645;RH36383;RH46587;RH68537;RH69004;SHGC-76271 C4BP C4b binding protein, beta chain;C4b-binding protein beta chain;OTTHUMP00000034288;OTTHUMP00000034289;OTTHUMP00000034374;OTTHUMP00000034375;complement component 4 binding protein, beta chain;complement component 4-binding protein, beta APPROVED protein-coding ENSG00000123843 1328 00404 120831 REVIEWED 1606121 C4orf22 chromosome 4 open reading frame 22 4 4 4 q21.21 78550408 79177954 + 81475898 82103928 + 81256874 81884910 + 18519826;12477932;20379614;21832049;23251661 255119 E7EPK2;G5E9Y8;Q6V702 ABBA01063403;ABBA01063404;ABBA01063405;ABBA01063406;ABBA01063407;ABBA01063408;ABBA01063409;ABBA01063410;ABBA01063411;AC021127;AC093876;AC093883;AC098822;AC105917;AI650567;AK128642;AMYH01014344;AMYH01014345;AMYH01014346;AMYH01014347;AMYH01014348;AMYH01014349;AY349359;BC034296;CH471057;DB522959;NM_001206997;NM_152770 AAH34296;AAQ56723;ABM84123;ABM84124;ABM87151;ABM87152;ABM87153;ABM87533;ABM87534;BAC87545;EAX05861;EAX05862;EAX05863;EAX05864;EAX05865;NP_001193926;NP_689983;Q6V702 Hs.527104 1662962;1688867;1710464;1725541;1737535;1751151;1755371;1762285;1774513;2122984;2164750 D4S1130;D4S2690;D4S3208;RH119169;RH94079;SHGC-105105;SHGC-142252;SHGC-146136;SHGC-51338;SHGC-86246;SHGC4-1672 MGC35043 OTTHUMP00000160797;OTTHUMP00000219240;hypothetical protein LOC255119;uncharacterized protein C4orf22 protein-coding ENSG00000197826 28554 14597 VALIDATED 1602323 C4orf21 chromosome 4 open reading frame 21 4 4 4 q25 110754552 110852228 - 113730235 113777505 - 113460489 113558151 - 6480464 17974005;17081983;16344560;15146197;14702039;12477932;11181995;8889548;20332099;21832049;21906983 55345 B4DSN6;D6RB47;D6REN9;D6REQ7;E9PDE1;G3XAL8;G5EA02;I3L0G6;Q6ZU11;Q86YA3 ABBA01063816;AC023886;AC106864;AK002193;AK090556;AK126054;AK299831;AK302613;AL137700;AL708767;AMYH01014469;BC028584;BC044799;BF056790;BM721145;BX647594;CH471057;CN297341;DA199760;DB219969;NM_018392 AAH44799;BAA92130;BAC86416;BAG52184;BAG61698;BAG63860;CAB70881;EAX06279;EAX06280;EAX06281;NP_060862;Q6ZU11;Q86YA3 Hs.380346;Hs.713663 1750007;1785180;2173151 D4S1143;SHGC-111707;SHGC-70129 DKFZp313L226;DKFZp434C0927;FLJ11331;FLJ33237;FLJ44066 OTTHUMP00000163825;OTTHUMP00000218236;OTTHUMP00000219764;prematurely terminated mRNA decay factor-like protein-coding ENSG00000138658 25654 08562 VALIDATED 1604986 C4orf26 chromosome 4 open reading frame 26 Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] 4 4 4 q21.1 73777392 73786055 + 76700282 76708951 + 76481258 76491103 + 12477932;22658654;22901946 152816 D6RFW7;Q17RF5 ABBA01063344;AC096759;AK074237;AK172776;AK300227;AMYH01014305;BC061701;BC117342;BC144003;BC144005;BX377852;CH471057;HC006960;NG_032974;NM_001206981;NM_001257072;NM_178497;NR_046429;NR_046430;R32248 AAI17343;ADR82804;BAB85027;BAD18758;BAG61995;CBH19285;EAX05738;EAX05739;NP_001193910;NP_001244001;NP_848592;Q17RF5 Hs.24510 2123427;2128837;5037552 D8S2279;G16705;SHGC-50699 FLJ23657;FLJ23937;FLJ53097;MGC150951 OTTHUMP00000160597;OTTHUMP00000219249;hypothetical protein LOC152816;uncharacterized protein C4orf26 protein-coding ENSG00000174792 26300 08040 614829;614832 REVIEWED 1352720 C4orf17 chromosome 4 open reading frame 17 4 4 4 q23 97729579 97760871 + 100651223 100682483 + 100432161 100463460 + 15489334;14702039;12477932;11230166;16169070;16344560;23455924;23568457;23319000;8125298 84103 D6RHU4;Q53FE4;Q8NA78 ABBA01063673;AC083902;AK093085;AK223345;AK314711;AL136838;AMYH01014420;AMYH01014421;AP001960;BC069805;BC074759;CH471057;CR533542;DB051883;NM_032149 AAH69805;AAH74759;BAC04048;BAD97065;BAG37256;CAB66772;CAG38573;EAX06102;EAX06103;NP_115525;Q53FE4 Hs.97501 1686814;1764301;1785040 RH98528;SHGC-147917;SHGC-154039 DKFZP434G072 OTTHUMP00000161654;OTTHUMP00000220331;hypothetical protein LOC84103;uncharacterized protein C4orf17 protein-coding ENSG00000138813 25274 12825 VALIDATED 1604909 C4orf40 chromosome 4 open reading frame 40 4 4 4 q13.3 68377867 68390293 + 71054493 71066915 + 71019904 71032326 + 16381901;15489336;11230166;11076863 401137 D6RGD6;H0Y8Q8;Q6MZM9 ABBA01022925;AC104811;AMYH01014273;BX484937;BX485867;BX640892;BX640924;BX640997;BX647183;BX647185;BX648724;BX648872;BX648895;BX648896;NM_214711 AAI46697;CAE45962;CAE46000;CAH56124;CAH56126;CAL38348;NP_999876;Q6MZM9 Hs.518795 OTTHUMP00000159768;OTTHUMP00000218951;hypothetical protein LOC401137;uncharacterized protein C4orf40 protein-coding 33193 14222 VALIDATED 1604791 C4orf29 chromosome 4 open reading frame 29 4 4 4 q28.2 126267834 126333840 + 129105911 129171918 + 128886461 128952468 + 6480464 12477932;21890473 80167 B7WP89;D6R9K9;D6RD85;D6RGX5;Q0P651 ABBA01044799;ABBA01044800;ABBA01044801;ABBA01044802;ABBA01044803;ABBA01044804;AC099340;AK024759;AMYH01014509;BC034253;BC058847;BC058898;BC075793;BC111400;BC128142;BC128143;BX500590;CH471056;NM_001039717 AAH34253;AAI28143;AAI28144;BAB14990;EAX05189;EAX05190;EAX05191;EAX05192;NP_001034806;Q0P651 Hs.445817 1644249;1661184;1700200;1776277;5015961;5016478 D15S1477;GDB:434012;RH103716;RH36511;RH46171;STS-H40321 FLJ21106;MGC149227;MGC149228 OTTHUMP00000164426;hypothetical protein LOC80167;uncharacterized protein C4orf29 protein-coding ENSG00000164074 26111 07953 PREDICTED 1602179 C4orf45 chromosome 4 open reading frame 45 4 4 4 q32.1 157155716 157297403 - 160034134 160175783 - 159814684 159956333 - 6480464 16344560;15342556;20379614 152940 Q96LM5 ABBA01070211;ABBA01070212;ABBA01070213;ABBA01070214;ABBA01070215;ABBA01070216;AC093700;AC109823;AK058100;AK307319;AMYH01014646;AMYH01014647;BP369394;CH471056;DB037602;NM_152543 AAI72327;BAB71665;EAX04851;NP_689756;Q96LM5 Hs.415576 1684174;1684977;1714541;1761351;1770240;1785200;1855485;2154113;2172373;2185339 C027ZB9;RH119783;RH45922;SHGC-145362;SHGC-25153;SHGC-67962;SHGC-68047;SHGC-68119;SHGC-84316;STS-Z41140 FLJ25371 OTTHUMP00000220951;hypothetical protein LOC152940;uncharacterized protein C4orf45 protein-coding 26342 08058 VALIDATED 1606274 C4orf27 chromosome 4 open reading frame 27 4 4 4 q33 167983601 168012093 - 170887194 170915668 - 170650619 170679093 - 6480464 11256614;16381901;15489336;14702039;12477932;11230166;11076863;16169070;19505873;20379614;16712791;21139048;22505724 54969 Q9NWY4 ABBA01070342;ABBA01070343;AC106878;AK000541;AK090742;AK124036;AL136673;AMYH01014704;BC010367;BM905677;CB141427;CH471056;DN990093;NM_017867 AAH10367;BAA91241;CAB66608;CAL37758;EAX04780;EAX04781;NP_060337;Q9NWY4 Hs.406756 5124063 RH41158 FLJ20534;FLJ33423;FLJ42042 OTTHUMP00000219418;UPF0609 protein C4orf27;hypothetical protein LOC54969 protein-coding ENSG00000056050 26051 07924 VALIDATED 1604907 C4orf3 chromosome 4 open reading frame 3 4 4 4 q26 117579164 117587192 - 120437022 120441416 - 120217574 120225600 - 6480464 16344560;16174453;15146197;12477932;8889548;20332099;17207965 401152 Q8WVX3 ABBA01044706;AC092656;AF075061;AK024537;AK025703;AMYH01014484;AY605045;BC017399;BU739784;CH471229;CN361054;DA353224;NM_001001701;NM_001170330 AAH17399;AAT35812;ADQ32691;EAW73665;NP_001001701;NP_001163801;Q8WVX3 Hs.741263 1664849;1674210;2132898;2164525 SHGC-32100;SHGC-59293;SHGC-59810;SHGC-59853 HCV F-transactivated protein 1;OTTHUMP00000220063;OTTHUMP00000223700;hepatitis C virus F protein-transactivated protein 1;hypothetical protein LOC401152;uncharacterized protein C4orf3 APPROVED protein-coding 19225 14223 VALIDATED 1601935 C4orf33 chromosome 4 open reading frame 33 4 4 4 q28.2 127396845 127415860 + 130234279 130253293 + 130014829 130033843 + 6480464 17567985;14702039;12477932 132321 D6RD26;D6RIS3;D6RIT3;Q8N1A6 ABBA01044830;AC093826;AK091022;AK309229;AMYH01014515;BC016358;BC032582;BE566349;BP871612;BQ549846;BU783470;BX538164;CH471056;CN483524;NM_001099783;NM_173487 AAH16358;AAH32582;BAC03568;CAD98044;EAX05161;EAX05162;EAX05163;EAX05164;EAX05165;EAX05166;NP_001093253;NP_775758;Q8N1A6 Hs.567679 1654948;1715143;2127735 D4S2553E;RH119524;SHGC-32420 FLJ33703 OTTHUMP00000164486;OTTHUMP00000220026;OTTHUMP00000220994;UPF0462 protein C4orf33;hypothetical protein LOC132321 protein-coding ENSG00000151470 27025 14049 VALIDATED 2974931 C4orf51 chromosome 4 open reading frame 51 4 4 4 q31.21 143928891 143981824 + 146820806 146873399 + 146601356 146653949 + 646603 C9J302;H0Y9W7 ABBA01070034;ABBA01070035;ABBA01070036;ABBA01070037;AC093864;AC107212;AMYH01014595;AMYH01014596;AMYH01014597;AMYH01014598;AMYH01014599;NM_001080531 C9J302;NP_001074000 Hs.452865 1763465 SHGC-147171 OTTHUMP00000220285;chromosome 4 open reading frame 51;uncharacterized protein C4orf51 protein-coding ENSG00000237136 37264 INFERRED 1606723 C4orf32 chromosome 4 open reading frame 32 4 4 4 q25 110359983 110403664 + 113286127 113329678 + 113066553 113110237 + 6480464 19380854;18437351;14702039;12477932;20332099;21139048;21906983;19322201;21963094;23349771 132720 Q8N8J7 ABBA01063814;AC093663;AC109347;AI634637;AK096689;AMYH01014468;BC022534;BC041964;BI463956;CH471057;NM_152400 AAH22534;AAY40961;BAC04841;EAX06266;NP_689613;Q8N8J7 Hs.23439 1644452;1724937;2125262;2168628;2172618;2181379 D4S2449;RH119235;SHGC-18154;SHGC-36541;SHGC-50578;SHGC-60034 FLJ39370 OTTHUMP00000163750;chromosome 4 open reading frame 32;uncharacterized protein C4orf32 protein-coding ENSG00000174749 26813 08252 VALIDATED 1606159 C4orf36 chromosome 4 open reading frame 36 4 4 4 q21.3 85086805 85103009 - 88016382 88032599 - 87797358 87813575 - 6480464 15489334;15342556;14702039;12477932;20379614;23568457 132989 D6RAE1;D6RCP1;D6RF10;D6RGW9;Q96KX1 ABBA01063513;AC093827;AMYH01014371;BC016746;BC063410;BP289794;BX090513;CH471057;NM_144645 AAH16746;EAX05970;NP_653246;Q96KX1 Hs.339646 MGC26744 OTTHUMP00000161171;OTTHUMP00000219442;OTTHUMP00000219445;OTTHUMP00000219447;hypothetical protein LOC132989;uncharacterized protein C4orf36 protein-coding ENSG00000163633 28386 14511 VALIDATED 2301122 C4orf48 chromosome 4 open reading frame 48 4 4 4 p16.3 1955927 1957904 + 2013487 2015495 + 2043720 2045697 + 6480464 15809229;12477932;21287218 401115 Q5BLP8 ABBA01029524;AI929674;AL132868;AMYH01013873;AW157771;AY947524;BC038466;BC047038;BC062790;BQ129383;CH471131;NM_001141936;NM_001168243 AAX21785;EAW82542;EAW82543;NP_001135408;NP_001161715;Q5BLP8 Hs.446474 1745935 G64299 CHR4_55 OTTHUMP00000205822;OTTHUMP00000205823;hypothetical protein LOC401115;neuropeptide-like protein C4orf48 protein-coding ENSG00000243449 34437 614690 VALIDATED 1606430 C4orf46 chromosome 4 open reading frame 46 This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 4 4 4 q32.1 156928857 156934241 - 159807279 159896209 - 159587831 159593202 - 6480464 16344560;16303743;14702039;12477932;21832049;19322201;8889548 201725 D6RFF4;Q504U0 ABBA01070208;AC107219;AK027539;AK074948;AK311718;AMYH01014643;AMYH01014644;BC065017;BC094775;BI823282;BU688970;CH471056;CQ783770;DB289388;NG_033150;NM_001008393;NR_077234;NR_077235 AAH65017;AAH94775;BAG51339;BAG52038;CAF86853;EAX04855;NP_001008394;Q504U0 Hs.380920;Hs.735449 1688953;1775993;1807560;2048086;2048090;2104522;2141686;2162072;5113271 ECD04752;REN95180;REN95182;RH41930;RH93633;SHGC-33796;STS-T95868;STS-W61113;stSG608963 OTTHUMP00000220837;OTTHUMP00000221325;hypothetical protein LOC201725;uncharacterized protein C4orf46 protein-coding ENSG00000205208 27320 17319 VALIDATED 1343214 C5orf10 chromosome 5 open reading frame 10 170747 17703 2298813 C4orf47 chromosome 4 open reading frame 47 4 4 4 q35.1 183676735 183698471 + 186584397 186607976 + 186350545 186370821 + 6480464 15809229;15489334;12477932;20379614 441054 A7E2U8;D6R9T4;D6RB10;D6RCA9 ABBA01070532;AC106897;AMYH01014774;AMYH01014775;AY947525;BC127739;BC141967;BC141968;BC150574;NM_001114357 A7E2U8;AAI50575;AAX21786;NP_001107829 Hs.549398 2145706;5094798 ATT077P;STS-H64141 OTTHUMP00000218242;UPF0602 protein;UPF0602 protein C4orf47;hypothetical protein LOC441054 protein-coding ENSG00000205129 34346 PREDICTED 1602802 C4orf50 chromosome 4 open reading frame 50 4 4 4 p16.2 5858375 5889687 - 6009746 6041067 - 5958839 5990166 - 12477932;20379614 389197 E9PNW5;Q6ZRC1 ABBA01008269;AC092442;AK128339;AMYH01013910;AMYH01013911;BC140710;XM_003118524;XM_003119922;XM_003960335 AAI40711;BAC87391;Q6ZRC1;XP_003118572;XP_003119970;XP_003960384 Hs.479065 2121648;2143697;2164255 SHGC-24741;SHGC-59715;STS-Z40860 FLJ46481 OTTHUMP00000195600;chromosome 4 open reading frame 50;hypothetical protein LOC389197;uncharacterized protein C4orf50 protein-coding ENSG00000181215 33766 13538 MODEL 7246716 C5orf17 chromosome 5 open reading frame 17 6480464 14702039;22379092 439936 Q8NAS9 ABBA01066620;AC026784;AC108093;AK092155;AMYH01014973;BI198197;BQ950913;DQ323997;XR_132502;XR_133395;XR_171491 ABC88599;Q8NAS9 Hs.638078 protein-coding ENSG00000248874 26630 MODEL 735934 C5 complement component 5 The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. [provided by RefSeq, Jul 2008] 9 9 q33-q34 122754434 122852375 - 123714613 123812554 - 1600637;1600651;1600652;1600655;1600599;1580863;1600658;1600665;1600666;1600592;1600597;5129512;5130153;5130158;5130162;5130159;5130160;5129681;5130180;5130161;5129688;5130175;5129705;5130170;5130154;5130150;5129706;5130168;5129707;6480464;6907045;7240710 12355496;11591795;11422211;11136932;14688199;10486240;10188960;9631876;15995705;15158333;15278436;3826891;10973279;3540828;7814608;2612053;20802484;10516626;3631740;17079327;20975959;20500690;18648551;3985125;3264125;20143644;11292607;17975174 20880552;22258234;8898085;10820279;9590258;7649993;8759757;3052276;9218605;19479237;19416238;19401279;19375167;19344414;19336421;19324972;19265162;19263529;19258923;19247692;19230171;19225544;19180477;19131662;19116907;19110536;19028820;18974840;18759306;18714034;18644651;18576341;18411281;18300128;18039528;17880261;17804836;17703412;17644516;17634448;17533009;17505301;17498719;17482181;17428459;17322907;17023413;16879222;16823297;16670089;16335952;15879120;15778377;15598652;15585680;15550394;15488949;15383587;14662858;14556080;12937147;12881318;12878586;12488432;12477932;11752456;11367533;10352266;9553099;9188742;9007977;8889548;8702752;8175701;7835913;7730648;7661861;3624872;3408713;3365401;2808363;2784981;2730871;2579066;1996961;1984448;1387399;690134;106884;8630395;7911492;11939578;15768031;20424189;22802338;14566334;16452172;18240029;1847994;19162005;19414197;19423540;19503088;19559392;19565500;19674979;19729601;19741008;19843088;19864026;19902201;19909405;19918040;19948975;20022638;20030635;20049410;20109314;20124699;20133685;20205706;20219786;20233754;20237496;20353580;20406964;20438785;20444755;20479942;20498205;20503287;20453842;20545943;20591742;20797713;20822712;20962850;18953960;19913121;20536507;20603037;20628086;22812419;20813982;22820624;22244896;22452399;21926466;22308306;22528500;23071133;21393613;22284611;22496247;22500023;23028051;23401592;21890473;23321589 727 P01031 AB209031;ABBA01016235;ABBA01016236;ABBA01016237;ABBA01016238;ABBA01016239;AC006430;AK310774;AK310780;AMYH01021691;AMYH01021692;AV682721;BC022299;BC113738;BC113740;BG533927;CB250401;CH471090;DQ400449;M57729;M65134;NG_007364;NM_001735;T82068 AAA51856;AAA51925;AAB35171;AAI13739;AAI13741;ABD48959;BAD92268;EAW87480;NP_001726;P01031 Hs.494997 1657620;1795206;1851945;1852909;2186007;2217090 C5_001;C5_3095;D9S2050;G29157;SHGC-52622;WI-12734 C5a;C5b;CPAMD4;FLJ17816;FLJ17822;MGC142298 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4;C5a anaphylatoxin;OTTHUMP00000022001;anaphylatoxin C5a analog;complement C5;prepro-C5 APPROVED protein-coding ENSG00000106804 1331 00405 120900;609536 REVIEWED 1350810 C5AR1 complement component 5a receptor 1 19 19 q13.3-q13.4 52504944 52517167 + 47813104 47825327 + 1580863;5130168;5130169;5129704;5130170;5129559;5129560;5130177;5130166;5129564;1600652;5129681;5129561;5129702;1600597;5130167;5130165;5130180;5130176;6480464;6907045 11292607;19050293;5129564;18648551;17544263;12759460;16511606;21421909;11422211;20802484;15940127;15159277;15158333;14718840;19926870;10516626;12897064 22187344;10352266;7649993;8779720;8702752;9590258;2007135;19344414;19333232;19324972;19308263;19251703;19005416;18772131;18753257;18538384;18187666;17804836;17724165;17234193;17199736;17135254;17090530;17068344;17023413;16879222;16778800;16301808;15944400;15550394;15489334;15485893;15278436;15144465;15128829;15039137;14570896;12794141;12651630;12477932;12464600;12453150;12091343;11773063;11733378;11705397;11342590;10963136;9553099;8759762;8573284;8383526;7962171;7642584;7521884;1847994;1612600;2541200;10597774;15768031;22608366;20500690;20473571;19864971;12600272;17322907;18240029;19423540;19464229;19657723;19789190;20044484;20406964;20438785;20484595;16341674;21292772;23041570;21628869;21613290;22244896;22496247;22441801;21963094;23479227;22960554;23402022 728 M0QZK7;P21730 ABBA01041024;ABBA01041025;AC099491;AMYH01009883;AY221091;BC008982;BE042476;BI916506;BM830753;BT007358;CH471126;M62505;NM_001736;S56557;X57250;X58674 AAA62831;AAD14919;AAH08982;AAO65969;AAP36022;ABM82683;ABM85866;CAA40530;CAB37830;EAW57470;EAW57471;NP_001727;P21730 Hs.2161 1741855;1795204 C5R1_STS1;GDB:185765 C5A;C5AR;C5R1;CD88 C5a anaphylatoxin chemotactic receptor;C5a anaphylatoxin chemotactic receptor 1;C5a anaphylatoxin receptor;C5a ligand;C5a-R;complement component 5 receptor 1;complement component 5 receptor 1 (c5a ligand) protein-coding ENSG00000197405 1338 00224 113995 VALIDATED 1350555 C4orf6 chromosome 4 open reading frame 6 This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.2 5424543 5427188 + 5577784 5580429 + 5526883 5529528 + 6480464 9016955;18454448;15489334;12477932;8889548 10141 H0Y9I1;Q99440 ABBA01008259;AC004664;AMYH01013906;BC117444;BC117446;BM978917;BX094519;CH471131;D82070;NM_005750 AAI17445;AAI17447;ADR83316;BAA11534;EAW82415;NP_005741;Q99440 Hs.177972 2139182 RH68303 aC1 OTTHUMP00000155146;OTTHUMP00000217284;chromosome 4 open reading frame 6;expressed in neuroblastoma;uncharacterized protein C4orf6 APPROVED protein-coding ENSG00000082929 13716 12826 REVIEWED 1354173 C5AR2 complement component 5a receptor 2 This gene encodes a G-protein coupled receptor 1 family member involved in the complement system of the innate immune response. Unlike classical G-protein coupled receptors, the encoded protein does not associate with intracellular G-proteins. It may instead modulate signal transduction through the beta-arrestin pathway, and may alternatively act as a decoy receptor. This gene may be involved in coronary artery disease and in the pathogenesis of sepsis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 19 19 q13.33 52532211 52537112 + 47840371 47845272 + 1580863;6480464 17158873;17068344;16204243;15833747;15634936;15489334;14570896;12540846;12477932;11773063;11165367;11090875;22194190;22180093;22187344;17322907;19100624;19615750;19767107;20044484;21698200;21630250;23239822;15342556;16344560;22441801;22496247;22812419;22960554 27202 Q6NWR0;Q9P296 AB038237;ABBA01041026;AC008754;AC099491;AF317655;AK313994;AMYH01009883;AY268430;BC067477;BC067478;BC067479;BC067480;BP370117;CH471126;CS173027;DA673976;NM_001271749;NM_001271750;NM_018485 AAH67477;AAH67478;AAH67479;AAH67480;AAK12640;AAP23197;BAA95414;BAG36706;CAJ33695;EAW57472;NP_001258678;NP_001258679;NP_060955;Q9P296 Hs.534412 1797656 GPR77_2341 C5L2;GPF77;GPR77 C5a anaphylatoxin chemotactic receptor 2;C5a anaphylatoxin chemotactic receptor C5L2;G protein-coupled receptor 77;G protein-coupled receptor C5L2;G-protein coupled receptor 77 APPROVED protein-coding ENSG00000134830 4527 17072 609949 REVIEWED 1605576 C5orf20 chromosome 5 open reading frame 20 This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 130903693 130906827 - 134807803 134810937 - 134779904 134783038 - 6480464 11181995;17460725;16189510;15489334;12477932;11798177;10737800;20351714;17207965;20693543 140947 Q8TF63 AB074498;ABBA01068727;AC022092;AMYH01015628;BC069608;BC069610;BC074831;BC074832;BC117156;BC117158;CH471062;NM_130848 AAH69608;AAH69610;AAH74831;AAH74832;ADQ32916;BAB84585;EAW62216;NP_570900;Q8TF63 Hs.152477 1677780;5492697;5493393;5494041 RH93048;UniSTS:480796;UniSTS:482053;UniSTS:485969 DCNP1 OTTHUMP00000223506;dendritic cell nuclear protein 1 APPROVED protein-coding ENSG00000251380 24459 16786 609710 REVIEWED 1321206 C5orf15 chromosome 5 open reading frame 15 5 5 5 q31.1 129414883 129428091 - 133319100 133332377 - 133291198 133304406 - 6480464 12477932;9110174;8889548;8619474;18951430;16303743;15489334;15342556;14702039;12752121;21832049;21139048;21890473;21906983;19322201;22505724 56951 B4DPV8;Q8NC54 ABBA01068770;AC025177;AF035313;AF226055;AK074963;AK298515;AK315362;AMYH01015621;AY157581;BC020875;BM681428;BP245947;CH471062;CS300550;NM_020199 AAF86955;AAH20875;AAO13165;ABM82948;ABM86140;BAC11319;BAG37757;BAG60720;CAK32214;EAW62287;EAW62288;NP_064584;Q8NC54 Hs.744034 2128802;2133865;5092736 A005V24;G32296;RH35974 HTGN29;KCT2 OTTHUMP00000159392;keratinocyte-associated transmembrane protein 2;keratinocytes associated transmembrane protein 2 protein-coding ENSG00000113583 20656 12829 VALIDATED 2303887 C5orf27 chromosome 5 open reading frame 27 5 5 5 q15 91066688 91074592 + 95213695 95221593 + 95187936 95195837 + 6480464 14702039;12477932 202299 Q52M75 ABBA01069245;AC008592;AK096140;AK314737;AMYH01015490;AW206457;AY168789;BC093643;BC101577;CH471084;NR_026936 AAO25675;BAG37278;EAW96058;EAW96059;Q52M75 Hs.8373 1767463;2107099 A004D35;FIS__6724 FIS;FLJ38821;MGC126626 miscrna ENSG00000236882 24687 16896 VALIDATED 1605291 C5orf24 chromosome 5 open reading frame 24 5 5 5 q31.1 130309065 130323730 + 134209269 134222687 + 134181370 134195425 + 6480464 16344560;14702039;12477932;17207965;21890473 134553 H0YAE0;Q7Z6I8 ABBA01068736;AC006077;AJ437658;AK094881;AMYH01015626;BC045567;BC053677;BX640771;BX648529;CH471062;DA760705;NM_001135586;NM_152409 AAH53677;ADQ32595;BAC04448;CAD26900;EAW62234;EAW62235;EAW62236;NP_001129058;NP_689622;Q7Z6I8 Hs.743453 1699608;1785664;2116355;2175101;5091871 A007F30;RH103405;RH47430;SHGC-64770;STS-N26241 FLJ37562 OTTHUMP00000159384;OTTHUMP00000223106;OTTHUMP00000223108;OTTHUMP00000223109;UPF0461 protein C5orf24;hypothetical protein LOC134553 protein-coding ENSG00000181904 26746 08226 VALIDATED 1605070 C5orf22 chromosome 5 open reading frame 22 5 5 5 p13.3 31412843 31435644 + 31568158 31590043 + 31532373 31555165 + 6480464 16344560;16189514;14702039;12477932;8889548;8619474;9110174;21139048;21890473;21906983;19322201;22053931 55322 B4DR92;E5RFG1;E5RHP8;Q49AR2 ABBA01066717;AC022417;AF038176;AF085882;AI300780;AK002055;AK074385;AK299156;AL834427;AMYH01014993;AV710784;BC021215;BC032845;BM683466;CH471118;DA783320;DC404356;NM_018356 AAH21215;AAH32845;BAA92060;BAG61204;CAD39088;EAX10771;EAX10772;EAX10773;EAX10774;NP_060826;Q49AR2 Hs.519246 1654744;1739643;2127965;2176814;5095034 C5orf22;D5S1928E;G31097;RH36313;RH79023 DKFZp667N066;FLJ11193;FLJ23805;MGC33010 OTTHUMP00000161701;UPF0489 protein C5orf22;hypothetical protein LOC55322 protein-coding ENSG00000082213 25639 07740 VALIDATED 1606242 C5orf23 chromosome 5 open reading frame 23 5 5 5 p13.3 32670577 32673451 + 32824702 32827576 + 32788945 32791819 + 11256614;15489334;14702039;12477932;19913121;20628086;19570815 79614 AC026703;AK024116;BC022250;CH471118;NM_024563 AAH22250;BAB14832;EAX10800;NP_078839;Q9H7Z1 Hs.13528 FLJ14054 hypothetical protein LOC79614 protein-coding 25861 08593 1602449 C5orf30 chromosome 5 open reading frame 30 5 5 5 q21.1 98542288 98562209 + 102622341 102642260 + 102594442 102614361 + 6480464 14702039;12477932;9110174;8619474;20453842;22085962;19322201 90355 Q96GV9 ABBA01069145;AC011362;AF038182;AK058020;AK090558;AMYH01015516;BC009203;CH471086;NM_033211 AAH09203;ADZ15830;BAC03478;EAW49075;NP_149988;Q96GV9 Hs.482976 1699666;1854441;2115251;2173992;2173994;2173996;2173998 D5S1572E;RH103437;RH36330;RH47357;RH47369;SGC34527;WI-22600 FLJ25291 OTTHUMP00000158932;OTTHUMP00000222713;OTTHUMP00000222714;UNC119-binding protein C5orf30;UPF0684 protein C5orf30;hypothetical protein LOC90355 protein-coding ENSG00000181751 25052 12383 PROVISIONAL 1605053 C5orf28 chromosome 5 open reading frame 28 5 5 5 p12 43335476 43375118 - 43480111 43515847 - 43444354 43483992 - 6480464 16344560;15489334;14702039;12477932;21832049 64417 D6RAV6;E9PBX6;Q0VDI3;Q6GMT5 ABBA01024257;AC025457;AK025310;AK225220;AK315466;AL137306;AMYH01015057;BC013351;BC063832;BC073852;BC119658;BC119659;CH471119;DA028175;DA035926;NM_022483 AAH13351;AAH63832;AAH73852;AAI19659;AAI19660;BAB15108;BAG37853;EAW56061;EAW56062;EAW56063;EAW56064;NP_071928;Q0VDI3 Hs.732093 1656420;1850443;1852765;5024039;5037552;5119219 D16S325;D5S1925E;D8S2279;G30173;RH46937;SHGC-64113 FLJ21657;MGC149524;MGC90226 OTTHUMP00000161801;OTTHUMP00000221630;OTTHUMP00000221631;OTTHUMP00000221633;transmembrane protein C5orf28 protein-coding ENSG00000151881 26139 07965 VALIDATED 1606695 C5orf38 chromosome 5 open reading frame 38 5 5 5 p15.33 2784111 2787360 + 2805262 2808511 + 2752262 2755511 + 16515847;12477932 153571 B7ZL86;D6RBL9;Q86SI9 ABBA01010210;ABBA01010211;AC091891;AMYH01014869;AY249324;AY249325;BC101608;BC101634;BC143638;BC143639;BC143640;BC171731;CH471102;NM_178569 AAI01609;AAI01635;AAI43640;AAP15241;AAP15242;EAX08134;EAX08135;NP_848664;Q86SI9 Hs.668017 CEI;IRX2NB;MGC126657;MGC126683 IRX2 neighbor;OTTHUMP00000220678;OTTHUMP00000220682;OTTHUMP00000220683;OTTHUMP00000228970;coordinated expression to IRX2;coordinated expression to IRXA2 homeobox;coordinated expression to IRXA2 protein;protein CEI protein-coding ENSG00000186493 24226 16706 610522 PROVISIONAL 1601916 C5orf34 chromosome 5 open reading frame 34 5 5 5 p12 43377936 43406275 - 43522567 43550944 - 43486803 43515273 - 6480464 14702039;12477932;21987572;21906983 375444 E9PBC3;H0YAD0;Q96MH7 ABBA01024257;AC025457;AC114956;AK056925;AK303336;AMYH01015057;AMYH01015058;AW002049;BC036867;CH471119;DB453004;NM_198566 AAH36867;BAB71311;BAG64399;EAW56065;NP_940968;Q96MH7 Hs.661641;Hs.733375 FLJ32363;MGC46448 OTTHUMP00000161802;hypothetical protein LOC375444;uncharacterized protein C5orf34 protein-coding ENSG00000172244 24738 13407 VALIDATED 1605197 C5orf46 chromosome 5 open reading frame 46 5 5 5 q32 143353069 143366899 - 147252464 147266294 - 147272271 147286101 - 6480464 12975309;12477932 389336 Q6UWT4 ABBA01026321;AC011352;AK289403;AMYH01015693;AY358656;BC021680;NM_206966 AAH21680;AAQ89019;ADZ16057;BAF82092;NP_996849;Q6UWT4 Hs.660038 1653205 L28266 MGC23985 OTTHUMP00000223878;hypothetical protein LOC389336;uncharacterized protein C5orf46 protein-coding ENSG00000178776 33768 14491 VALIDATED 1606513 C5orf42 chromosome 5 open reading frame 42 The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012] 5 5 5 p13.2 36993297 37136467 - 37142087 37249612 - 37106330 37249530 - 6480464 14702039;12477932;21145461;17549794;20936779;10737800;15372022;22425360;21987572;22264561;20301500 65250 H0Y9I8;H0YA77;J9JIC9;Q9H799;R4GNH6 ABBA01024176;ABBA01024177;ABBA01024178;AC008925;AC025449;AK023293;AK024779;AK026735;AK055192;AK096581;AL832176;AL833065;AMYH01015029;AMYH01015030;AW996738;BC028410;BC074774;BC144069;BC144070;BC144072;BC150594;BX647602;BX649121;DB448866;DN831769;DW009792;DW009948;DW009949;DW009996;DW009997;DY655086;EG327639;NG_032772;NM_023073 AAH28410;AAH74774;AAI44070;AAI50595;BAB14513;BAB14999;BAB15539;BAC04822;NP_075561;Q9H799 Hs.586199 1660980;1670997;2130082;2155116;5014762 D5S2523;D5S2547;RH11888;RH36352;STS-W92787 DKFZp686K02105;FLJ13231;FLJ21126;JBTS17 OTTHUMP00000218308;OTTHUMP00000218309;OTTHUMP00000218310;Transmembrane protein ENSP00000382582;chromosome 5 open reading frame 42;hypothetical protein LOC65250;uncharacterized protein C5orf42 APPROVED protein-coding ENSG00000197603 25801 07822 614571;614615 REVIEWED 2298816 C5orf50 chromosome 5 open reading frame 50 5 5 q35.1 171145481 171166221 + 171201478 171233616 + 6480464 15372022;19197348;20379614;23509962;23028347;20881960 644994 A6NLE4;H0YC34 ABBA01044070;AC011410;AC022440;AMYH01015808;XM_003403786;XM_003960360;XM_928062 A6NLE4;XP_003403834;XP_003960409;XP_933155 1338328;1687405;1709288;1723581;1752075;2111478;2123053;2140233;7185386 D5S2366;D5S462;G16950;RH123244;RH45655;RH92339;SHGC-106017;SHGC-85842 chromosome 5 open reading frame 50;hypothetical protein LOC644994;uncharacterized protein C5orf50 protein-coding 34440 MODEL 1606005 C5orf45 chromosome 5 open reading frame 45 5 5 5 q35.3 174889422 174910994 - 179196872 179218446 - 179264266 179285840 - 6480464 16381901;15489336;15146197;14702039;12477932;11230166;11076863;17207965 51149 B7Z1T6;E5RGF8;E5RHV0;E5RHY8;E5RI52;E5RIC8;E5RIJ7;E5RJC6;E5RK98;E7EMV9;F6UWW1;F6XPR0;Q6NTE8 ABBA01010044;ABBA01010045;ABBA01010046;ABBA01010047;AC008393;AF153685;AK293901;AK298954;AMYH01015960;BC002739;BC050714;BC056889;BC069051;BF965313;BQ642639;BX537968;BX647375;CH471165;CN363239;CR936785;NM_001017987;NM_016175 AAD51611;AAH02739;AAH69051;ADQ32062;BAH11622;BAH12911;CAD97932;CAL37424;CAL38467;EAW53784;EAW53785;NP_001017987;NP_057259;Q6NTE8 Hs.741169 1740517;1740867;1776934;1856023;2108523;2120717;2130122;2154130;2162845;5015861;5020274;5020948;5021228;5022200;5022425;5037552;5037670;5112017;7185938 A002O27;A008T21;D10S16;D11S4452;D22S296;D3S4354;D5S2306E;D8S2279;G35510;G44365;GDB:312794;L18426;L18441;RH18060;RH70719;SHGC-33017;SQSTM1_8870;WI-22658 DKFZp686L2452;MGC65027;MGC78537 OTTHUMP00000224084;OTTHUMP00000224353;OTTHUMP00000224355;OTTHUMP00000224356;OTTHUMP00000224357;UPF0544 protein C5orf45;hypothetical protein LOC51149 protein-coding ENSG00000161010 30817 17420 VALIDATED 2298818 C5orf47 chromosome 5 open reading frame 47 5 5 5 q35.2 169448431 169465412 + 173333391 173365749 + 173416162 173433143 + 6480464 12477932 133491 Q569G3 ABBA01044015;AC093275;AC113423;AMYH01015831;BC034971;BC047225;BC053953;BC057842;BC066964;BC092489;BC121167;BC121168;CH471062;DB443869;NM_001144954 AAH34971;AAH92489;EAW61388;NP_001138426;Q569G3 Hs.131469 OTTHUMP00000223699;hypothetical protein LOC133491;uncharacterized protein C5orf47 protein-coding ENSG00000185056 27026 VALIDATED 1605198 C5orf48 chromosome 5 open reading frame 48 5 5 5 q23.2 121924031 121928585 + 125995313 125999873 + 125967414 125971974 + 12477932 389320 Q6ZNM6 ABBA01068900;AC099513;AK131015;AMYH01015600;BC130495;BC130497;CH471086;NM_207408 AAI30496;AAI30498;ADR82834;BAC85477;EAW48848;NP_997291;Q6ZNM6 Hs.177983 1684451 RH98376 FLJ27505;MGC163367;MGC163369 OTTHUMP00000159191;hypothetical protein LOC389320;uncharacterized protein C5orf48 protein-coding ENSG00000196900 33767 13399 PREDICTED 2303474 C5orf52 chromosome 5 open reading frame 52 5 5 5 q33.3 153125154 153133754 + 157098561 157107162 + 157098561 157107162 + 15489334;15372022 100190949 A6NGY3 ABBA01044264;AC008694;AI187821;AMYH01015748;BG721329;CH471062;NM_001145132 A6NGY3;EAW61592;NP_001138604 Hs.720862 1659144 RH65319 OTTHUMP00000205880;hypothetical protein LOC100190949;uncharacterized protein C5orf52 protein-coding ENSG00000187658 35121 VALIDATED 2298811 C5orf49 chromosome 5 open reading frame 49 5 5 5 p15.31 7872579 7892308 - 7884511 7904264 - 7830491 7851603 - 12477932;20379614 134121 A4QMS7;D6RHK3 ABBA01020576;AC010346;AMYH01014891;AMYH01014892;BC053548;BC062569;BC104204;BC104205;BC115361;CH471102;NM_001089584 A4QMS7;AAI04206;AAI15362;EAX08096;NP_001083053 Hs.709979 1675672 RH99110 OTTHUMP00000220815;OTTHUMP00000220816;hypothetical protein LOC134121;uncharacterized protein C5orf49 protein-coding ENSG00000215217 27028 VALIDATED 5132119 C5orf63 chromosome 5 open reading frame 63 5 5 5 q23.2 122507919 122538849 - 126411112 126435214 - 126378250 126409184 - 6480464 16344560 401207 A6NC05 ABBA01068884;AC004507;AC005915;AK126569;AMYH01015604;BQ269742;CH471062;DA507232;NM_001164478;NM_001164479 A6NC05;EAW62410;EAW62411;NP_001157950;NP_001157951 Hs.49573 1682015;1719097;2148124;2152932 RH123266;RH65981;RH93386;SGC32884 FLJ44606;YDR286C glutaredoxin-like protein C5orf63;glutaredoxin-like protein YDR286C homolog protein-coding ENSG00000164241 40051 VALIDATED 1606516 C5orf54 chromosome 5 open reading frame 54 5 5 5 q33.3 155852618 155859521 - 159752733 159759638 - 159820155 159827060 - 6480464 12477932;10607616;21900206;21890473;23533661 63920 Q8IZ13 AA728782;ABBA01044219;AC091842;AF205598;AK026754;AMYH01015760;BC032603;BC112128;BC112130;BM457021;BM903536;BQ959342;CH471062;NM_022090 AAF18452;AAH32603;AAI12129;AAI12131;BAB15542;EAW61557;EAW61558;EAW61559;EAW61560;NP_071373;Q8IZ13 Hs.529464 1644181;1646299;1691218 A007J26;D5S2666;RH93457 Buster3;ZBED8 OTTHUMP00000224268;protein ZBED8;transposon-derived Buster3 transposase-like protein;zinc finger BED domain-containing protein 8 protein-coding ENSG00000221886 30804 17430 615253 VALIDATED 1350608 C5orf9 chromosome 5 open reading frame 9 q31 415118 AI808255 Hs.124611 protein-coding 17924 2306473 C5orf55 chromosome 5 open reading frame 55 5 5 5 p15.33 539762 541405 - 494613 496210 - 441613 443258 - 12477932;16189514 116349 Q8N2X6 ABBA01034257;AC010442;AMYH01014826;BC014011;BC029796;NM_138464 AAH14011;AAH29796;NP_612473;Q8N2X6 Hs.446702 5014051 D8S2278 OTTHUMP00000221641;hypothetical protein LOC116349;uncharacterized protein C5orf55 protein-coding ENSG00000221990 25175 VALIDATED 1605775 C5orf56 chromosome 5 open reading frame 56 5 5 5 q31.1 127876758 127928158 + 131774572 131825958 + 131746465 131811736 + 14702039;22561531;20570966;12477932;18587394;21102463;19760754;20886065;20031576;20031577;23128233 441108 A6NHD6;B5MCK2;Q8N8D9 ABBA01068805;ABBA01068806;ABBA01068807;AC116366;AI377899;AK025221;AK096941;AK128882;AK129632;AK309191;AMYH01015615;BC130299;BC130656;BM998490;CH471062;CS072460;DC350817;DN991436;NR_045116 AAI30300;AAI30657;ADR83475;BAC04907;CAI93598;EAW62333;EAW62334;EAW62335;EAW62336;Q8N8D9 Hs.658288 1669682;1773548;1785420;1791554;1792798;1803044;1803114;1803452;1805262;1806444;1807810;1807944;1810180;1810464;1810466;1811368;1811688;1812078;1812560;1814178;1815312;1815680;1816614;1817912;1818420;1820652;1822512;1824624;1825426;1825656;1826492;1827296;1827860;1827960;1829820;1830176;1831418;1831730;1834440;1834774;1835728;1835926;1837184;1837290;1837860;1838414;1839068;1840942;1841188;1843886;1846278;1847177;1998426;1998428;1998430;1998432;1998434;1998436;1998438;1998440;1998442;1998444;1998446;1998448;1998450;1998452;1998454;1998456;1998458;1998460;1998462;1998464;1998466;1998468;1998470;1998472;1998474;1998476;1998478;1998480;1998482;1998484;1998486;1998488;1998490;1998492;1998494;1998496;1998498;1998500;1998502;1998504;1998506;1998508;1998510;1998512;1998514;1998516;1998518;1998520;1998522;1998524;1998526;1998528;1998530;1998532;1998534;1998536;1998538;1998540;1998542;1998544;1998546;1998548;1998550;1998552;1998554;1998556;1998558;1998560;1998562;1998564;1998566;1998568;1998570;1998572;1998574;1998576;1998578;1998580;1998582;1998584;1998586;1998588;1998590;1998592;1998594;1998596;1998598;1998600;1998602;1998604;1998606;1998608;1998610;1998612;1998614;1998616;1998618;1998620;1998622;1998624;1998626;1998628;1998630;1998632;1998634;1998636;1998638;1998640;1998642;1998644;1998646;1998648;1998650;1998652;1998654;1998656;1998658;1998660;1998662;1998664;1998666;1998668;1998670;1998672;1998674;1998676;1998678;1998680;1998682;1998684;1998686;1998688;1998690;1998692;1998694;1998696;1998698;1998700;1998702;1998704;1998706;1998708;1998710;1998712;1998714;1998716;1998718;1998720;1998722;1998724;1998726;1998728;1998730;1998732;1998734;1998736;1998740;1998742;1998744;1998746;1998748;1998750;1998752;1998754;1998756;1998758;1998760;1998762;1998764;1998766;1998768;1998770;1998772;1998774;1998776;1998778;1998780;1998782;1998784;1998786;1998788;1998790;1998792;1998794;1998796;1998798;1998800;1998802;1998804;1998806;1998808;1998810;1998812;1998814;1998816;1998818;1998820;1998822;1998824;1998826;1998828;1998830;1998832;1998834;1998836;1998838;1998840;1998842;1998844;1998846;1998848;1998850;1998852;1998854;1998856;1998858;1998860;1998862;1998864;1998866;1998868;1998870;1998872;1998874;1998876;1998878;1998880;1998882;1998884;1998886;1998888;1998890;1998892;1998960;1998962;1998964;1998966;1998968;1998970;1998972;1998974;1998976;1998978;1999088;1999090;2095974;2095976;2095978;2095980;2095982;2095984;2095986;2095988;2095990;2095992;2095994;2095996;2095998;2096000;2096002;2096004;2096006;2096008;2096010;2096012;2096014;2096016;2096018;2096020;2096022;2096024;2096026;2096028;2096030;2096032;2096034;2096036;2096038;2096040;2096042;2096044;2096046;2096048;2096050;2096052;2096054;2096056;2096058;2096074 ECD02413;ECD02448;ECD02623;ECD03576;ECD04178;ECD04880;ECD04947;ECD06082;ECD06225;ECD06226;ECD06682;ECD06848;ECD07044;ECD07290;ECD08118;ECD08692;ECD08878;ECD09349;ECD10010;ECD10268;ECD11401;ECD12344;ECD13410;ECD13820;ECD13936;ECD14360;ECD14763;ECD15053;ECD15103;ECD16043;ECD16221;ECD16845;ECD17002;ECD18368;ECD18535;ECD19021;ECD19124;ECD19758;ECD19812;ECD20100;ECD20381;ECD20713;ECD21664;ECD21789;ECD23154;ECD24359;L28348;PMC115182P1;PMC164606P14;REN70125;REN70126;REN70127;REN70128;REN70129;REN70130;REN70131;REN70132;REN70133;REN70134;REN70135;REN70136;REN70137;REN70138;REN70139;REN70140;REN70141;REN70142;REN70143;REN70144;REN70145;REN70146;REN70147;REN70148;REN70149;REN70150;REN70151;REN70152;REN70153;REN70154;REN70155;REN70156;REN70157;REN70158;REN70159;REN70160;REN70161;REN70162;REN70163;REN70164;REN70165;REN70166;REN70167;REN70168;REN70169;REN70170;REN70171;REN70172;REN70173;REN70174;REN70175;REN70176;REN70177;REN70178;REN70179;REN70180;REN70181;REN70182;REN70183;REN70184;REN70185;REN70186;REN70187;REN70188;REN70189;REN70190;REN70191;REN70192;REN70193;REN70194;REN70195;REN70196;REN70197;REN70198;REN70199;REN70200;REN70201;REN70202;REN70203;REN70204;REN70205;REN70206;REN70207;REN70208;REN70209;REN70210;REN70211;REN70212;REN70213;REN70214;REN70215;REN70216;REN70217;REN70218;REN70219;REN70220;REN70221;REN70222;REN70223;REN70224;REN70225;REN70226;REN70227;REN70228;REN70229;REN70230;REN70231;REN70232;REN70233;REN70234;REN70235;REN70236;REN70237;REN70238;REN70239;REN70240;REN70241;REN70242;REN70243;REN70244;REN70245;REN70246;REN70247;REN70248;REN70249;REN70250;REN70251;REN70252;REN70253;REN70254;REN70255;REN70256;REN70257;REN70258;REN70259;REN70260;REN70261;REN70262;REN70263;REN70264;REN70265;REN70266;REN70267;REN70268;REN70269;REN70270;REN70271;REN70272;REN70273;REN70274;REN70275;REN70276;REN70277;REN70278;REN70279;REN70280;REN70282;REN70283;REN70284;REN70285;REN70286;REN70287;REN70288;REN70289;REN70290;REN70291;REN70292;REN70293;REN70294;REN70295;REN70296;REN70297;REN70298;REN70299;REN70300;REN70301;REN70302;REN70303;REN70304;REN70305;REN70306;REN70307;REN70308;REN70309;REN70310;REN70311;REN70312;REN70313;REN70314;REN70315;REN70316;REN70317;REN70318;REN70319;REN70320;REN70321;REN70322;REN70323;REN70324;REN70325;REN70326;REN70327;REN70328;REN70329;REN70330;REN70331;REN70332;REN70333;REN70334;REN70335;REN70336;REN70337;REN70338;REN70339;REN70340;REN70341;REN70342;REN70343;REN70344;REN70345;REN70346;REN70347;REN70348;REN70349;REN70350;REN70351;REN70352;REN70353;REN70354;REN70355;REN70356;REN70357;REN70358;REN70392;REN70393;REN70394;REN70395;REN70396;REN70397;REN70398;REN70399;REN70400;REN70401;REN70456;REN70457;RH47939;RH70122;SHGC-144724;stSG601254;stSG601255;stSG601256;stSG601257;stSG601258;stSG601259;stSG601260;stSG601261;stSG601262;stSG601263;stSG601264;stSG601265;stSG601266;stSG601267;stSG601268;stSG601269;stSG601270;stSG601271;stSG601272;stSG601274;stSG601275;stSG601276;stSG601277;stSG601278;stSG601279;stSG601280;stSG601281;stSG601282;stSG601283;stSG601284;stSG601285;stSG601286;stSG601287;stSG601288;stSG601289;stSG601290;stSG601291;stSG601292;stSG601293;stSG601294;stSG601295;stSG601296;stSG601297;stSG601305 FLJ21568;FLJ26121 OTTHUMP00000065826;OTTHUMP00000065827;OTTHUMP00000065828;hypothetical protein LOC441108 miscrna ENSG00000197536 33838 18460 VALIDATED 3403707 C5orf58 chromosome 5 open reading frame 58 5 5 5 q35.1 165691873 165705161 + 169592528 169605813 + 169659950 169673235 + 6480464 12477932 133874 C9J3I9;G3V135 ABBA01044101;AC008660;AC034199;AMYH01015802;BC030767;BC092511;BX100176;CH471062;NM_001102609 C9J3I9;EAW61482;NP_001096079 Hs.519749 1654229 RH70635 MGC42229 OTTHUMP00000223182;putative uncharacterized protein C5orf58 protein-coding ENSG00000234511 37272 PREDICTED 1351960 C6orf100 chromosome 6 open reading frame 100 6 p22.1 28911203 28912313 + 19851445 387084;729583 Q5JQF7 BX118328;NR_103538;R07702;XM_002343966;XM_002343988;XM_002344022;XM_002344050;XR_039921;XR_039923;XR_078633;Z84476 CAC69878;Q5JQF7;XP_002344007;XP_002344029;XP_002344063;XP_002344091 Hs.453549 2128410;2186434 RH46736;WI-17133 dJ25J6.5 miscrna 21195 PREDICTED 1604480 C5orf64 chromosome 5 open reading frame 64 5 5 5 q12.1 57929772 57998497 + 60969393 61038119 + 60933636 61002362 + 14702039;12477932;22832961 285668 Q2M2E5 ABBA01048371;AC026746;AC094086;AK094862;AK127800;AMYH01015114;BC111982;BC112008;CH471137;NM_173667 AAI11983;AAI12009;BAC04439;EAW51393;NP_775938;Q2M2E5 Hs.683866 1341609;1681885;1709964;1761023;5015619;5037552 D11S3114;D5S1990;D8S2279;RH92005;SHGC-144986;SHGC-82250 FLJ37543;FLJ45901;MGC138187;MGC138213 OTTHUMP00000221970;hypothetical protein LOC285668;uncharacterized protein C5orf64 APPROVED protein-coding ENSG00000178722 26744 09962 VALIDATED 1604481 C5orf51 chromosome 5 open reading frame 51 5 5 5 p13.1 41792762 41810031 + 41940227 41957495 + 41904470 41921738 + 6480464 15489334;15372022;14702039;12477932;21139048;21890473;19322201;22505724 285636 A6NDU8;Q6AW98 ABBA01024237;AC034222;AK094002;AL833916;AMYH01015051;BC131721;BF439305;CH471119;NM_175921 A6NDU8;AAI31722;EAW56016;EAW56017;NP_787117 Hs.29899 1677220 RH98965 OTTHUMP00000221208;UPF0600 protein;UPF0600 protein C5orf51;hypothetical protein LOC285636 protein-coding ENSG00000205765 27750 11258 VALIDATED 3104049 C5orf60 chromosome 5 open reading frame 60 5 5 q35.3 179001940 179004612 - 179068558 179072047 - 12477932;14702039;15372022;15489334 285679 A6NFR6;H0Y8N9 ABBA01010029;AC136604;AK093042;AMYH01015956;BC040992;BC043435;BC130442;BC130444;BC144274;BC144275;HC007094;NM_001142306 A6NFR6;AAI30443;AAI30445;AAI44275;AAI44276;CBH19352;NP_001135778;Q8NA96 Hs.558748 1650586;1654186;1660625;1676656;1677012;1677116;1683156;1694678;1700336;1719077;1797694;2130779;2140472 D5S1862;G16980;G43520;HNRPH1_2339;RH103788;RH123255;RH69028;RH77877;RH78175;RH79987;RH99066;RH99206;SHGC-13723 FLJ35723 OTTHUMP00000223358;OTTHUMP00000223359;putative uncharacterized protein C5orf60;putative uncharacterized protein FLJ35723 protein-coding ENSG00000204661 27753 PREDICTED 1605841 C6orf1 chromosome 6 open reading frame 1 6 6 6 p21.31 35768530 35771279 - 34322135 34324882 - 34214157 34216904 - 6480464 15489334;12477932;10036196;8889549;19913121;20628086;19893584;20379614;21998595 221491 G8JLJ3;Q86T20 AA043491;AA779779;ABBA01038180;AK290164;AL354740;AMYH01016255;AY062936;BC009526;BC023627;BC047919;CF456665;CH471081;NM_001008703;NM_001008704;NM_178508 AAH23627;AAH47919;BAF82853;EAX03775;EAX03776;EAX03777;EAX03778;NP_001008703;NP_001008704;NP_848603;Q86T20 Hs.381300 1677856;2189327 MARC_1047-1048:991929773:1;RH94282 LBH;MGC57858 OTTHUMP00000216380;OTTHUMP00000216551;OTTHUMP00000216552;OTTHUMP00000216553;hypothetical protein LOC221491;uncharacterized protein C6orf1 protein-coding ENSG00000186577 1340 12834 611419 VALIDATED 1346663 C6orf10 chromosome 6 open reading frame 10 6 6 6 p21.3 33827603 33906430 - 32368453 32447634 - 32260475 32339656 - 6480464 22751097;19143821;19116923;18445777;15489334;14574404;12509440;12477932;10803852;8125298;20549515;20587610;20639878;20662065;18576341;18941528;19680446;19851445;20200978;20453842;21326295;21408207;21804548;21900946;22457343;22318606;22589738;22703881;23042114;23251661;23321320 10665 B0UYU3;B0UYU4;B0UZT8;B0UZT9;C9J9T8;E9PLW3;E9PMB1;E9PNQ4;E9PQ85;F8VVU2;Q13647;Q5SPK9 ABBA01038109;ABBA01038110;AK225742;AK302176;AK310230;AL034394;AL035445;AL662796;AL670296;AL671511;AL845509;AL845557;AMYH01016236;AMYH01016237;BC034774;BX001039;BX113229;BX119999;BX255945;BX284927;BX908732;BX927180;CH471081;CR751604;CR752644;CR759737;CR759773;CR759917;CT009614;NM_006781;U60665 AAB02975;AAH34774;BAG63542;CAI20345;CAI20346;CAI42178;CAI42179;EAX03624;EAX03625;NP_006772;Q5SRN2 Hs.567414 1681203;1697158;1786154;2106255;2106257;2106259;2106261;2106263;2106265;2106267;2106269;2106271;2106273;2106275;2106277;2189725;2189727;2220328 13-36829;D6S2732;D6S2734;D6S2744;D6S2886;D6S2887;D6S2888;D6S2889;D6S2890;D6S2891;D6S2892;D6S2913;D6S2914;M2_2_46;M2_2_48;RH102067;RH80842;SHGC-79455 TSBP OTTHUMP00000029142;OTTHUMP00000029143;OTTHUMP00000229345;OTTHUMP00000229346;OTTHUMP00000229347;chromosome 6 open reading frame 10;testis specific basic protein;uncharacterized protein C6orf10 protein-coding ENSG00000204296 13922 09851 VALIDATED 1345988 C6orf131 chromosome 6 open reading frame 131 387091 21287 1354360 C6orf132 chromosome 6 open reading frame 132 6 6 6 p21.1 43621313 43663175 - 42202512 42218693 - 42068857 42110715 - 6480464 647024 Q5T0Z8 ABBA01050734;ABBA01050735;ABBA01050736;AK074567;AL096814;AL512274;AMYH01016302;NM_001164446 NP_001157918;Q5T0Z8 Hs.444277 1758385;5015961 D15S1477;SHGC-148209 FLJ90086;bA7K24.2 OTTHUMP00000016396;OTTHUMP00000223436;hypothetical protein LOC647024;uncharacterized protein C6orf132 protein-coding ENSG00000188112 21288 PREDICTED 1352972 C6 complement component 6 This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012] 5 5 p13 41178093 41249369 - 41142336 41261540 - 1600672;1600673;625607;1600675;1600489;1600682;1600670;1580863;6480464;6907045;7240710 15638131;15351314;11970970;11912252;10807586;2672823;17034580 17474147;3052276;19344414;18842294;17257682;16344560;16335952;15845028;15489334;14757862;12477932;10551839;9856498;9472666;9366265;8805625;8512929;8364540;8101442;3764345;3192535;2808363;2789218;2468158;1672663;1387399;16169070;19162005;19423540;19665237;19864026;20237496;20406964;20438785;20459687;19913121;20628086;22267737;21704099;22288589;22500023;21988832;23149075 729 C9JC72;C9JX36;P13671 AB126592;ABBA01024229;ABBA01024230;ABBA01024231;AC008863;AC091871;AK292509;AK313673;AMYH01015049;BC035723;BJ993387;CH471119;DB066614;DB184605;J04506;J05024;J05064;NG_011582;NM_000065;NM_001115131;X72177 AAA51860;AAA59668;AAB59433;AAH35723;ABM82183;ABM85369;BAD02321;BAF85198;CAA50994;EAW56012;EAW56013;NP_000056;NP_001108603;P13671 Hs.481992 1655871;1695680;1717965;1743587;1785282;2177204;2217092;5491856 C6;C6_2629;D5S2425;GDB:352711;RH122809;SHGC-106966;SHGC-78720;STS-X72177 OTTHUMP00000120010;OTTHUMP00000197101;complement component C6 APPROVED protein-coding ENSG00000039537 1339 01956 217050;612446 REVIEWED 1348768 C6orf120 chromosome 6 open reading frame 120 6 6 6 q27 170812442 170816587 + 169844182 169848327 + 170102257 170106402 + 12477932;9110174;8908511;8619474;21980299;22340178 387263 J3KQ97;Q7Z4R8 ABBA01016118;AF055030;AF451991;AK295061;AK295962;AL513547;AMYH01016878;BC051700;CH471051;NM_001029863 AAH51700;AAP97690;BAG58110;BAG58741;EAW47445;EAW47446;NP_001025034;Q7Z4R8 Hs.591375;Hs.694601 1769969;2138236;2151082 D6S1237E;D6S1902;RH36593 bA160E12.4 OTTHUMP00000017670;UPF0669 protein C6orf120;hypothetical protein LOC387263 protein-coding ENSG00000185127 21247 PROVISIONAL 1347646 C6orf114 chromosome 6 open reading frame 114 6 6 6 p23 14702736 14719620 - 13577488 13594394 - 13469509 13486415 - 15489334;14574404;12477932 85411 AF264036;AL583828;BC009205;BC066553;CH471087;NM_033069 AAH66553;AAK58533;CAI14821;EAW55330;NP_149060;Q96JD4 Hs.674313 ADG-90;FLJ20330;RP11-501I19.1 OTTHUMP00000016049;chromosome 6 open reading frame 114;hypothetical protein LOC85411 protein-coding 21229 12841 MODEL 1350222 C6orf144 chromosome 6 open reading frame 144 387096 21358 1601978 C6orf106 chromosome 6 open reading frame 106 6 6 6 p21.31 36109394 36219085 - 34663043 34772603 - 34555065 34664625 - 6480464 8619474;19266077;18793612;18391952;18003597;15489334;14702039;14574404;12477932;9110174;20546612;20846217;19059477;19343178;21832049;19322201;21987572;21139048;21890473;21906983;20686565;21963094;21988832;23000965;23449627;22053931;22505724 64771 Q5TH58;Q9H6K1 ABBA01038192;ABBA01038193;ABBA01038194;ABBA01038195;ABBA01038196;ABBA01038197;AF052106;AF370387;AK025848;AK056964;AK313410;AL031577;AL451165;AMYH01016259;AMYH01016260;BC002328;BC010143;BC010184;BC013241;BC071885;BC075810;BC107732;BE898102;CH471081;NM_022758;NM_024294 AAH02328;AAH10184;AAH75810;AAQ15223;BAB15258;BAB71327;BAG36204;EAX03790;EAX03791;EAX03792;NP_073595;NP_077270;Q9H6K1 Hs.643498 1654832;2124337;2144210;2157578 D6S1136E;RH16573;RH65367;WI-21948 FLJ22195;FLJ32402;FP852;MGC4614;RP3-391O22.4;dJ391O22.4 OTTHUMP00000016235;OTTHUMP00000016236;OTTHUMP00000016237;chromosome 6 open reading frame 106;uncharacterized protein C6orf106 protein-coding ENSG00000196821 21215 12837 612217 VALIDATED 1349789 C6orf118 chromosome 6 open reading frame 118 6 6 6 q27 166431264 166461218 - 165613143 165643101 - 165693153 165723111 - 6480464 8889548;15489334;14574404;12477932;21832049;22589738 168090 F5H2W5;Q5T5N4 ABBA01015091;AI333765;AK302358;AL117345;AL356125;AMYH01016842;BC026278;BM968092;CH471051;DB454755;NM_144980 AAH26278;BAH13683;EAW47548;EAW47549;NP_659417;Q5T5N4 Hs.144734 MGC23884;bA85G2.1;dJ416F21.2 OTTHUMP00000017584;dJ416F21.2 (novel protein);hypothetical protein LOC168090;uncharacterized protein C6orf118 protein-coding ENSG00000112539 21233 12844 VALIDATED 1348540 C6orf15 chromosome 6 open reading frame 15 6 6 6 p21.3 32679218 32680550 - 31186979 31188311 - 31079000 31080332 - 6480464 19620980;18029348;15217361;14574404;12975309;11178745;10545595;15466855;19851445;20639881;21841780;22493691;23263863;23326239 29113 M1T2K5;Q6UXA7 AB031481;AB088114;AB202103;ABBA01038068;AL662844;AL662867;AL773544;AMYH01016209;AY358438;BX927139;CH471081;CR753819;CR759805;NG_021348;NM_014070 AAI46375;AAI53158;AAQ88804;BAA88132;BAC54947;BAE78624;EAX03356;NP_054789;Q6UXA7 Hs.272214 5493185 UniSTS:484638 STG OTTHUMP00000029146;STG protein;taste bud-specific protein;uncharacterized protein C6orf15 protein-coding ENSG00000204542 13927 12856 611401 VALIDATED 1354465 C6orf147 chromosome 6 open reading frame 147 6 6 q13 74377094 74414626 - 73983862 74020088 - 16341674;14702039 387097 ABBA01040310;ABBA01040311;AC019205;AK090984;AMYH01016425;BM747426;NR_027005 Hs.732094 1666974;1809276;1812602;1816948;1817340;1820570;1822202;1823370;1824056;1824216;1825944;1831840;1835710;1837634;1837974;1838904;1839178;1839380;1841174;1841720;1843112;1843228;1845122;1845726;1855756;1855758;1922730;1922732;1922734;1922736;1922738;1922740;1922742;1922744;1922746;1922748;1922750;1922752;1922754;1922756;1922758;1922760;1922762;1922764;1922766;1922768;1922770;1922772;1922774;1922776;1922778;1922780;1922782;1922784;1922786;1922788;1922790;1922792;1922794;1922796;1922798;1922800;1922802;1922804;1922806;1922808;1922810;1922812;1922814;1922816;1922818;1922820;1922822;1922824;1922826;1922828;1922830;1922832;1922834;1922836;1922838;1922840;1922842;1922844;1922846;1922848;1922850;1922852;1922854;1922856;1922858;1922860;1922862;1922864;1922866;1922868;1922870;1922872;1922874;1922876;1922878;1922880;1922882;1922884;1922886;1922888;1922890;1922892;1922894;1922896;1922898;1922900;1922902;1922904;1922906;1922908;1922910;1922912;1922914;1922916;1922918;1922920;1922922;1922924;1922926;1922928;1922930;1922932;1922934;1922936;1922938;1922940;1922942;1922944;1922946;1922948;1922950;1922952;1922954;1922956;1922958;1922960;1922962;1922964;1922966;1922968;1922970;1922972;1922974;1922976;1922978;1922980;1922982;1922984;1922986;1922988;1922990;1922992;1922994;1922996;1922998;1923000;1923002;1923004;1923006;1923008;1923010;1923012;1923014;1923016;1923018;1923020;1923022;2159494;2172145;2172147;2183855;2207106;2207108;2207110;2207112;2207114;2207116;2207118;2207120;2207122;2207124;2207126;2207128;2207130;2207132;2207134;2207136;2207138;2207140;2207142;2207144;2207146;2207148;2207150;2207152;2207154;2207156;2207218;5022322;5037552 A002C29;A005C09;D11S2560;D6S1876;D8S2279;ECD05628;ECD07311;ECD09523;ECD09720;ECD11360;ECD12187;ECD12775;ECD13124;ECD13205;ECD14081;ECD17058;ECD19012;ECD19984;ECD20158;ECD20631;ECD20769;ECD20872;ECD21781;ECD22058;ECD22764;ECD22822;ECD23778;ECD24082;G19931;G20265;REN32189;REN32190;REN32191;REN32192;REN32193;REN32194;REN32195;REN32196;REN32197;REN32198;REN32199;REN32200;REN32201;REN32202;REN32203;REN32204;REN32205;REN32206;REN32207;REN32208;REN32209;REN32210;REN32211;REN32212;REN32213;REN32214;REN32215;REN32216;REN32217;REN32218;REN32219;REN32220;REN32221;REN32222;REN32223;REN32224;REN32225;REN32226;REN32227;REN32228;REN32229;REN32230;REN32231;REN32232;REN32233;REN32234;REN32235;REN32236;REN32237;REN32238;REN32239;REN32240;REN32241;REN32242;REN32243;REN32244;REN32245;REN32246;REN32247;REN32248;REN32249;REN32250;REN32251;REN32252;REN32253;REN32254;REN32255;REN32256;REN32257;REN32258;REN32259;REN32260;REN32261;REN32262;REN32263;REN32264;REN32265;REN32266;REN32267;REN32268;REN32269;REN32270;REN32271;REN32272;REN32273;REN32274;REN32275;REN32276;REN32277;REN32278;REN32279;REN32280;REN32281;REN32282;REN32283;REN32284;REN32285;REN32286;REN32287;REN32288;REN32289;REN32290;REN32291;REN32292;REN32293;REN32294;REN32295;REN32296;REN32297;REN32298;REN32299;REN32300;REN32301;REN32302;REN32303;REN32304;REN32305;REN32306;REN32307;REN32308;REN32309;REN32310;REN32311;REN32312;REN32313;REN32314;REN32315;REN32316;REN32317;REN32318;REN32319;REN32320;REN32321;REN32322;REN32323;REN32324;REN32325;REN32326;REN32327;REN32328;REN32329;REN32330;REN32331;REN32332;REN32333;REN32334;REN32335;RH44515;WI-15927;stSG625778;stSG625779;stSG625780;stSG625781;stSG625782;stSG625783;stSG625784;stSG625785;stSG625786;stSG625787;stSG625788;stSG625789;stSG625790;stSG625791;stSG625792;stSG625793;stSG625794;stSG625795;stSG625796;stSG625797;stSG625798;stSG625799;stSG625800;stSG625801;stSG625802;stSG625803;stSG625837 miscrna 21363 PREDICTED 1351982 C6orf177 chromosome 6 open reading frame 177 387105 H7C4Q1 21537 1604202 C6orf163 chromosome 6 open reading frame 163 6 6 6 q15 88473243 88493854 + 88113939 88131900 + 88054571 88075181 + 14702039;14574404 206412 E1P506;Q5TEZ5 ABBA01040492;AK092941;AL096817;AMYH01016493;CH471051;NM_001010868 EAW48604;EAW48605;EAW48606;NP_001010868;Q5TEZ5 Hs.646309 2113832;5015961;5037552 AB070040;D15S1477;D8S2279 OTTHUMP00000016829;hypothetical protein LOC206412;uncharacterized protein C6orf163 protein-coding ENSG00000203872 21403 16659 PROVISIONAL 1349161 C6orf178 chromosome 6 open reading frame 178 387108 21546 1346584 C6orf179 chromosome 6 open reading frame 179 387109 AL365217 CAI16604 bA74E24.1 protein-coding 21547 1348040 C6orf180 chromosome 6 open reading frame 180 387110 21548 1346936 C6orf123 chromosome 6 open reading frame 123 6 6 6 q27 168902229 168914578 - 167931093 167934605 - 168185217 168197539 - 15489334;12477932;10382971 26238 Q9Y6Z2 AB016901;ABBA01000417;AL009178;AL732359;AMYH01016865;BC027853;CH471051;NR_026773 BAA78636;EAW47488;EAW47489;Q9Y6Z2 Hs.520583 1336670;5016478;5024039;5037552 D16S325;D6S503;D8S2279;GDB:434012 HGC6.2;RP3-431P23.4;dJ431P23.4 miscrna ENSG00000146521 21235 12846 PREDICTED 1350155 C6orf183 chromosome 6 open reading frame 183 6 6 q21 109593733 109658131 + 109487040 109551438 + 11181995;14574404;14702039 389422 Q5T699 ABBA01026130;ABBA01026131;ABBA01026132;ABBA01026133;ABBA01026134;ABBA01026135;ABBA01026136;AL355305;AL359712;AMYH01016581;AMYH01016582;CH471051;XM_003403515;XM_003403796;XM_003960372 EAW48358;EAW48359;EAW48360;Q5T699;XP_003403563;XP_003403844;XP_003960421 FLJ37396;bA487F23.3 chromosome 6 open reading frame 183;putative uncharacterized protein C6orf183;transmembrane protein FLJ37396 protein-coding ENSG00000243587 21562 MODEL 1346500 C6orf187 chromosome 6 open reading frame 187 221299 XM_166305 21567 1349077 C6orf193 chromosome 6 open reading frame 193 254751 XM_173173 19130 1351435 C6orf2 chromosome 6 open reading frame 2 23737 1341 1342733 C6orf141 chromosome 6 open reading frame 141 6 6 6 p12.3 51074268 51075963 + 49625862 49628148 + 49518113 49519808 + 6480464 15489334;15146197;14702039;14574404;12477932 135398 H0YDR2;Q5SZD1 ABBA01050590;AK054918;AK289889;AL590244;AMYH01016339;BC036917;CH471081;CN345508;NM_001145652 AAH36917;BAB70828;BAF82578;EAX04335;EAX04336;NP_001139124;Q5SZD1 Hs.722010 5015861;5015881;7185938 D10S16;GDB:335751 MGC46457 OTTHUMP00000233263;hypothetical protein LOC135398;uncharacterized protein C6orf141 protein-coding ENSG00000197261 21351 12852 VALIDATED 1343649 C6orf202 chromosome 6 open reading frame 202 387115 AL136968 CAI19704;Q5TBU7 dJ182O16.3 protein-coding 21621 1350837 C6orf164 chromosome 6 open reading frame 164 6 6 6 q15-q16.1 88525506 88528123 + 88106842 88109459 + 88106842 88109459 + 14702039;12477932 63914 Q5TEZ4 ABBA01040493;ABBA01040494;AK021476;AL096817;AMYH01016493;NR_026784 Q5TEZ4 Hs.645177 dJ102H19.4 miscrna ENSG00000203871 21404 VALIDATED 1349220 C6orf184 chromosome 6 open reading frame 184 6 q21 109722199 109736133 + 12477932;11181995 221261 AL359711;BC107113;BC107114;CH471051;XM_001725460;XM_168053;XM_939850 A4QMU0;AAI07114;CAI40694;EAW48357;XP_001725512;XP_168053;XP_944943 Hs.373914 bA425D10.3 protein-coding 21563 1348259 C6orf136 chromosome 6 open reading frame 136 6 6 6 p21.33 32212933 32219096 + 30722780 30728963 + 30614816 30620987 + 6480464 16344560;15489334;15342556;14702039;14574404;12477932;8889548;17207965;22461910;21900206 221545 B0S7Q4;F8WBB4;F8WC77;F8WEV2;H7C4U4;H7C4Z6;H7C5B5;H7C5D3;Q0P5T2;Q5SQH8 ABBA01038051;ABBA01038052;AI536982;AK127564;AL662798;AL662800;AL732442;AL845353;AMYH01016205;AMYH01016206;BC016167;BC064397;BC073975;BM695485;BP255323;BQ022831;BX119957;BX908728;CH471081;CR753328;CR759778;DA200997;NM_001109938;NM_001161376;NM_145029 AAH16167;AAH64397;ADQ32157;BAC87037;EAX03310;EAX03311;NP_001103408;NP_001154848;NP_659466;Q5SQH8 Hs.591787 1685379;1739677;2156323;2189613;5116997 C4_2_24;D6S1533E;HL002;RH98618;STS-N98554 MGC15854 OTTHUMP00000029326;OTTHUMP00000029327;OTTHUMP00000029329;OTTHUMP00000214979;hypothetical protein LOC221545;uncharacterized protein C6orf136 protein-coding ENSG00000204564 21301 12851 VALIDATED 1351690 C6orf215 chromosome 6 open reading frame 215 p21.3 16702430;8838313 80866 AB088092;X90534 GT257 miscrna 30986 1354340 C6orf201 chromosome 6 open reading frame 201 6 6 6 p25.2 5308009 5359561 + 4024439 4075998 + 4079440 4130999 + 12477932;17207965;21832049 404220 B3KW47;B4DXB2;E9PC17;F8W941;Q7Z4U5 ABBA01021999;AF429972;AK124114;AK301893;AL033383;AMYH01016040;BC047663;BC066986;CH471087;NM_001085401 AAH47663;AAH66986;AAP97304;ADQ32979;BAG54009;BAG63324;EAW55155;EAW55156;EAW55157;NP_001078870;Q7Z4U5 Hs.716731 1658219;1679251;1744295;1744297;2182043 D6S1142E;GDB:451589;GDB:451598;RH70427;RH99317 MGC87625;dJ1013A10.5 OTTHUMP00000213693;OTTHUMP00000213725;hypothetical protein LOC404220;protein MGC87625;uncharacterized protein C6orf201 protein-coding ENSG00000185689 21620 12872 VALIDATED 1321665 C6orf165 chromosome 6 open reading frame 165 6 6 6 q15 88536482 88592999 + 88174440 88230901 + 88117690 88174191 + 6480464 16189514;15489334;14702039;14574404;12477932;16344560;20308539 154313 D6R9L9;D6RBZ4;Q8IYR0;Q8N771 ABBA01040494;AK093830;AK098840;AL049697;AMYH01016493;BC035083;BC045171;CH471051;DB021694;DB510748;NM_001031743 AAH35083;BAC04234;BAC05430;EAW48594;EAW48596;EAW48598;NP_001026913;Q8IYR0 Hs.82921 1335002;1676638;2176039 D6S1004;RH93136;SGC34177 FLJ25974;FLJ46091;dJ382I10.1 OTTHUMP00000016831;OTTHUMP00000220982;UPF0704 protein C6orf165;hypothetical protein LOC154313 protein-coding ENSG00000213204 21405 12863 VALIDATED 1605195 C6orf222 chromosome 6 open reading frame 222 6 6 6 p21.31 37838123 37859251 - 36391516 36412640 - 36283534 36304662 - 14574404;12477932 389384 P0C671 ABBA01038256;ABBA01038257;AMYH01016271;AMYH01016272;BC140873;BX648558;CH471081;NM_001010903;Z84484 AAI40874;EAX03884;NP_001010903;P0C671 Hs.162104 DKFZp779B1540 OTTHUMP00000216602;hypothetical protein LOC389384;uncharacterized protein C6orf222 protein-coding ENSG00000189325 33769 16824 VALIDATED 1343779 C6orf195 chromosome 6 open reading frame 195 6 6 6 p25.2 3851932 3864257 - 2567971 2580297 - 2622972 2635298 - 15489334;14702039;14574404;12477932;23251661 154386 Q96MT4 ABBA01048629;AK056496;AL138876;AMYH01016025;BC104007;BC104008;BC104009;CH471087;NM_152554 AAI04008;AAI04009;AAI04010;BAB71197;EAW55081;NP_689767;Q96MT4 Hs.680574 FLJ31934;MGC120321;MGC120322;MGC120323;RP11-145H9.2;bA145H9.2 OTTHUMP00000015942;hypothetical protein LOC154386;uncharacterized protein C6orf195 protein-coding 21600 12870 VALIDATED 1353225 C6orf36 chromosome 6 open reading frame 36 p21.3 140785 Z93017 protein-coding 17979 1605842 C6orf223 chromosome 6 open reading frame 223 6 6 6 p21.1 45521486 45526844 + 44076317 44080865 + 43968337 43973695 + 6480464 12477932;21757650 221416 Q8N319 ABBA01050660;AL109615;AMYH01016318;AW136542;BC029071;BC032706;BF515759;BX342526;CH471081;NM_001171992;NM_153246 AAH29071;AAH32706;ABM87657;ABW03908;ACT64510;ACT64511;EAX04238;EAX04239;NP_001165463;NP_694978;Q8N319 Hs.531926 MGC45491 OTTHUMP00000217343;OTTHUMP00000217344;hypothetical protein LOC221416;uncharacterized protein C6orf223 protein-coding ENSG00000181577 28692 14640 VALIDATED 1349360 C6orf42 chromosome 6 open reading frame 42 394256 18773 1352614 C6orf43 chromosome 6 open reading frame 43 493815 18774 1345357 C6orf38 chromosome 6 open reading frame 38 p21 387055 AA913908;AI688709 Hs.369401 C6orf39;bA373N24.1 protein-coding 18690 1606421 C6orf224 chromosome 6 open reading frame 224 6 q21 109920757 109934386 - 12477932;11181995 222521 AK098657;AL109947;BC101714;BC111948;BC143533;CH471051;NM_173559 AAI01715;AAI11949;AAI43534;BAC05368;EAW48336;NP_775830;Q3MIS4 Hs.335027 FLJ25791;MGC126763;MGC138153 protein-coding 26377 08076 1353882 C6orf50 chromosome 6 open reading frame 50 6 p25.1 3927901 3928709 + 14574404 57052 Q9HD87 AF210650;AL138831 AAF99586;CAI20479;Q9HD87 Hs.150858 KIAA0536;NAG19 protein-coding 20481 1348700 C6orf52 chromosome 6 open reading frame 52 6 6 6 p24.1 11900143 11923522 - 10779637 10795769 - 10671651 10695030 - 737633;6480464 12477932 347744 D6RAP8;D6RGE8;Q5T4I8 ABBA01022083;ABBA01022084;AI376550;AI621292;AI809192;AL358777;AMYH01016079;AW183566;AW293245;BC016820;BX280692;CH471087;NM_001145020;NR_026736;NR_026737 AAH16820;EAW55264;NP_001138492;Q5T4I8 Hs.61389 OTTHUMP00000016016;OTTHUMP00000016017;putative uncharacterized protein C6orf52 protein-coding ENSG00000137434 20881 PREDICTED 1346285 C6orf203 chromosome 6 open reading frame 203 6 6 6 q21 108097763 108120882 + 107456110 107479238 + 107349407 107372546 + 6480464 21832049;16344560;15489334;14702039;14574404;12477932;11707072;11042152;16169070;20877624;20186120 51250 J3KQ88;Q9P0P8 ABBA01026182;ABBA01026183;ABBA01026184;AF151064;AI193526;AK091564;AL355586;AMYH01016569;BC010899;CH471051;DA167160;NM_001142468;NM_001142470;NM_016487 AAF36150;AAH10899;ADZ15801;BAG52381;EAW48402;NP_001135940;NP_001135942;NP_057571;Q9P0P8 Hs.486084 2180854;5022339 HSPC230;RH45359 FLJ34245;HSPC230;PRED31;RP11-59I9.1 HSPC230;OTTHUMP00000016927;hypothetical protein LOC51250;uncharacterized protein C6orf203 protein-coding ENSG00000130349 17971 12873 VALIDATED 1602792 C6orf226 chromosome 6 open reading frame 226 6 6 6 p21.1 44410270 44410821 - 42965981 42966532 - 42858003 42858554 - 6480464 12477932 441150 Q5I0X4 ABBA01050708;AL035587;AMYH01016309;AX061662;BC051007;BC060325;BC073804;BC094854;NM_001008739 AAH60325;AAH73804;AAH94854;ADR82728;CAC25022;NP_001008739;Q5I0X4 Hs.571098 OTTHUMP00000211032;hypothetical protein LOC441150;uncharacterized protein C6orf226 protein-coding ENSG00000221821 34431 17403 PROVISIONAL 1313144 C6orf211 chromosome 6 open reading frame 211 6 6 6 q25.1 152507286 152525096 + 151815115 151832925 + 151773422 151791232 + 6480464 17353931;18029348;18978678;15489334;14702039;14574404;12477932;21540461;21552322;21139048;21906983;19805454 79624 F2Z3I8;F5GZY1;Q9H993 ABBA01025635;ABBA01025636;AJ420548;AK022972;AK298490;AK310840;AL110241;AL590543;AMYH01016746;BC011348;CH471051;NM_024573 AAH11348;BAB14339;BAG60698;CAB53692;EAW47744;EAW47745;NP_078849;Q9H993 Hs.15929 2166922 STS-T85358 DKFZp566I174;FLJ12910 OTTHUMP00000017433;UPF0364 protein C6orf211;hypothetical protein LOC79624 protein-coding ENSG00000146476 17872 09854 PROVISIONAL 1347534 C6orf61 chromosome 6 open reading frame 61 6 q22.31 119241321 119261971 - 16226853;14702039;14574404 54844 AK000177;AL132874;BN000882;XM_927492 BAA90991;CAC05409;CAJ70648;Q2KHJ0;Q8N5S5;Q9NXL9;XP_932585 Hs.279008 FLJ20170;MCM9;dJ329L24.1 protein-coding 18148 1353600 C6orf7 chromosome 6 open reading frame 7 6 q14 80513304 80580137 - 20522523 89758 ABBA01040419;AL078462;AL132875;AL590241;AMYH01016459;NM_001243308 NP_001230237 Hs.288213 hypothetical protein LOC89758;uncharacterized protein LOC89758 protein-coding 14109 VALIDATED 1344247 C6orf48 chromosome 6 open reading frame 48 6 6 6 p21.3 33400945 33405790 + 31910672 31915520 + 31802693 31807541 + 6480464 14759258;12477932;8096093;19851445;20041166;19913121;20628086;23382691 50854 Q9UBA6 ABBA01038089;AJ249731;AJ249732;AK311989;AL662834;AL671762;AL929592;AMYH01016219;BA000025;BC000706;BC017660;BC066330;BQ920527;BT007334;CD249104;CH471081;CR388202;CR759915;NM_001040437;NM_001040438 AAH00706;AAH17660;AAP35998;ADZ15651;BAB63298;CAB56506;CAB56507;CAB56508;EAX03530;EAX03531;EAX03532;EAX03533;EAX03534;EAX03535;NP_001035527;NP_001035528;Q9UBA6 Hs.640836;Hs.714250 1650615;2131873;2155308;5115473 G30247;RH41849;RH46105;RH47136 D6S57;G8 OTTHUMP00000029249;OTTHUMP00000029250;OTTHUMP00000029251;OTTHUMP00000029252;OTTHUMP00000029253;OTTHUMP00000029254;OTTHUMP00000029256;OTTHUMP00000174626;protein G8 protein-coding ENSG00000204387 19078 12015 605447 VALIDATED 1354388 C6orf25 chromosome 6 open reading frame 25 This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 33289386 33291076 + 31799140 31800830 + 31691121 31694487 + 1304532;6480464 10384126 11544253;19143814;18955485;17678728;17311996;15848171;14702039;14656967;14574404;12665801;12477932;11076863;19913121;20628086;19851445;8889548;17192395 80739 B0UXC5;B0UXC6;B0V023;B7ZLJ5;F8WDG3;Q96A90 ABBA01038084;AF129756;AJ012008;AJ292259;AJ292260;AJ292261;AJ292262;AJ292263;AJ292264;AJ292265;AK092392;AL662899;AL670886;AL844216;AMYH01016217;BA000025;BC113719;BC113721;BC143850;BU681844;BX248244;CH471081;CR354443;CR759787;CR936239;NG_029044;NM_025260;NM_138272;NM_138273;NM_138274;NM_138275;NM_138277 AAD18075;AAI11843;AAI13720;AAI13722;AAI43851;ADR82871;BAB63378;BAG52544;CAB46080;CAC83496;CAC83497;CAC83498;CAC83499;CAC83500;CAC83501;CAC83502;EAX03492;EAX03493;EAX03494;EAX03495;EAX03496;EAX03497;EAX03498;EAX03499;NP_079536;NP_612116;NP_612117;NP_612118;NP_612119;NP_612121;O95866 Hs.247879 1685714;5014051;5022651;5037552;5493107 D11S2921;D8S2278;D8S2279;RH76564;UniSTS:484317 G6b;MGC142279;MGC142281;NG31 OTTHUMP00000029171;OTTHUMP00000029172;OTTHUMP00000029173;OTTHUMP00000029176;OTTHUMP00000029177;OTTHUMP00000215228;OTTHUMP00000215230;immunoglobulin receptor;protein G6b APPROVED protein-coding ENSG00000204420 13937 09405 606520 REVIEWED 1345123 C6orf92 chromosome 6 open reading frame 92 387076 21164 1354353 C6orf98 chromosome 6 open reading frame 98 6 q25.1 152529594 152532033 - 387079 NM_001099267 NP_001092737 dJ45H2.2 protein-coding 21178 1350961 C6orf99 chromosome 6 open reading frame 99 6 6 6 q25.3 159957470 159979248 + 159210965 159251373 + 159309619 159331385 + 14574404 100130967 Q4VX62 ABBA01021075;ABBA01021076;AL627422;AMYH01016794;AW138390;BF688381;NM_001195032 NP_001181961;Q4VX62 Hs.32804 1680054;2131466 RH99275;SHGC-57156 yR211F11.1 OTTHUMP00000017513;putative uncharacterized protein C6orf99 protein-coding 21179 PREDICTED 1354435 C6orf47 chromosome 6 open reading frame 47 6 6 6 p21.3 33224296 33226770 - 31734054 31736528 - 31626075 31628549 - 6480464 19143821;18835879;17081983;15489334;14667819;14656967;14574404;12477932;2477242;16169070;19851445;19913121;20628086;21890473 57827 O95873;Q9UMP7 ABBA01038084;AF129756;AJ245433;AL662801;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BC012950;BC063584;BX511262;CH471081;CR354443;CR753842;CR759761;NM_021184 AAD18083;AAH12950;BAB63388;CAB51603;EAX03465;NP_067007;O95873 Hs.247323 1686830;1773416;2132093;2175166 A007I39;RH78482;RH92454;STS-W74100 D6S53E;G4;NG34 G4 protein;OTTHUMP00000029241;protein G4;uncharacterized protein C6orf47 protein-coding ENSG00000204439 19076 12883 VALIDATED 1347069 C6orf62 chromosome 6 open reading frame 62 6 6 6 p22.3 25938465 25952778 - 24813137 24827382 - 24705089 24719403 - 737633;6480464 12477932 11256614;15489334;14702039;14574404;11230166;16169070;19322201 81688 B4DWX7;Q9GZU0 AB075502;ABBA01066538;AJ420475;AK022681;AK301718;AL031775;AL133264;AL136632;AMYH01016151;AY598792;BC040260;BC047866;CH471087;CR457292;CR533486;NM_030939 AAH47866;AAT09203;ACE86559;ACE87241;BAB14175;BAE45752;BAG63189;CAB66567;CAG33573;CAG38517;EAW55461;EAW55462;EAW55463;EAW55464;NP_112201;Q9GZU0 Hs.9676 1693744;1735590;1768687;1792864;2133526;2173311;5017801 C6orf62;D6S1127E;PMC166143P4;RH44630;RH68224;SGC33935;SHGC-58818 DKFZp564G182;FLJ12619;Nbla00237;XTP12;dJ30M3.2 HBV X-transactivated gene 12 protein;HBV X-transactivated protein 12;HBV XAg-transactivated protein 12;OTTHUMP00000016093;OTTHUMP00000016094;hypothetical protein LOC81688;uncharacterized protein C6orf62 protein-coding 20998 12891 VALIDATED 1319485 C6orf57 chromosome 6 open reading frame 57 6 6 6 q13 71665041 71687022 + 71333346 71355327 + 71276625 71298606 + 6480464 15489334;14574404;12477932;21490949;17207965;20877624 135154 Q5VUM1 ABBA01040269;AL583856;AMYH01016415;BC018085;BC104649;BG703280;CF597237;CH471051;CS300728;NM_145267 AAH18085;AAI04650;ACT64428;ACT64429;ADQ33164;CAK32392;EAW48810;EAW48811;EAW48812;NP_660310;Q5VUM1 Hs.418495 5015861;7185938 D10S16 MGC104225 OTTHUMP00000016704;UPF0369 protein C6orf57;hypothetical protein LOC135154 protein-coding 20957 12888 VALIDATED 1350193 C6orf58 chromosome 6 open reading frame 58 6 6 6 q22.33 128640558 128655201 + 127940012 127954655 + 127898319 127912962 + 6480464 16740002;15489334;14574404;12477932 352999 Q6P5S2 ABBA01025929;AK303850;AL583806;AMYH01016658;BC062712;CH471051;NM_001010905 AAH62712;BAG64792;EAW48094;NP_001010905;Q6P5S2 Hs.226268 MGC72003 OTTHUMP00000017176;UPF0762 protein C6orf58;hypothetical protein LOC352999 protein-coding ENSG00000184530 20960 17379 VALIDATED 1319689 C6orf70 chromosome 6 open reading frame 70 6 6 6 q27 170861896 170891792 + 169893646 169923542 + 170151721 170181617 + 6480464 14702039;12477932;12107410;16344560 55780 F8WAF1;K7EM31;K7EME8;K7EMW5;K7EPX8;K7ER62;K7ERF7;K7ESI0;Q5T6L9 AA909435;ABBA01016120;AI522177;AK001369;AK002014;AK021520;AK294090;AL354892;AMYH01016879;BC044812;CA396814;CH471051;DA650477;NM_001278531;NM_001278532;NM_001278533;NM_018341 AAH44812;AAI48359;BAA91653;BAA92035;BAG57431;EAW47436;EAW47437;EAW47438;NP_001265460;NP_001265461;NP_001265462;NP_060811;Q5T6L9 Hs.47546 1728549;1765855 G63713;SHGC-149278 FLJ11152;dJ266L20.3 OTTHUMP00000017682;OTTHUMP00000017683;transmembrane protein C6orf70 protein-coding ENSG00000130023 21056 18697 VALIDATED 1348833 C6orf89 chromosome 6 open reading frame 89 6 6 6 p21.2 38408678 38451782 + 36961618 37004718 + 36853640 36896740 + 6480464 17461456;16381901;15489336;15489334;14702039;14574404;12975309;12477932;11230166;11076863;21890473;21906983;22930588;23460338;21857995 221477 Q5TDC5;Q5TDC7;Q6UWU4 ABBA01038267;ABBA01038268;AJ420498;AJ420511;AK001957;AK025213;AK058086;AK172780;AK300351;AK315984;AL122034;AMYH01016275;AMYH01016276;AY358637;BC009380;BC021804;BC023605;BC032796;BC050582;BC095423;BC105946;BC105947;BC107489;BX538108;BX647220;CH471081;DQ487761;FR832871;FR832872;NM_152734 AAH23605;AAH95423;AAI05947;AAI05948;AAI07490;AAQ89000;ABF61801;BAB71656;BAD18761;BAG62093;BAH14355;CAD98021;CAL38248;CCA30148;CCA30149;EAX03919;EAX03920;EAX03921;EAX03922;NP_689947;Q6UWU4 Hs.433381 1661067;1666292;1672555;1682451;1688078;1728131;1779184;2128187;2182637;2187817;5020948;5109281 D1S1425;D6S1286;G35510;G63337;G69466;RH35893;RH46642;RH79658;RH94301;SHGC-33920;STS-R62412;WI-14896 BRAP;FLJ25357;MGC126060;MGC126061;MGC126062 OTTHUMP00000016311;OTTHUMP00000016312;OTTHUMP00000016313;amfion;bombesin receptor activated protein;bombesin receptor-activated protein C6orf89;hypothetical protein LOC221477;uncharacterized protein C6orf89 protein-coding 21114 12905 VALIDATED 1351072 C7orf13 chromosome 7 open reading frame 13 7 7 7 q36.3 150858250 150860538 - 156123821 156126109 - 156431060 156433348 - 6480464 14702039;12690205;12477932;11890671 129790 Q8NI28;Q9H3I6 AACC02000068;ABBA01032376;AC005534;AF063598;AF439977;AI168080;AK056371;AMYH01018188;BC031037;BC050364;BC070228;CH236954;CH471149;NR_026865 AAG43157;AAM33252;EAL23919;EAX04550;Q8NI28 Hs.647014 MY040 miscrna ENSG00000244291 17126 12908 610242 VALIDATED 1317752 C7orf25 chromosome 7 open reading frame 25 7 7 7 p14.1 42939193 42942010 - 42915397 42918214 - 42948872 42951689 - 6480464 12477932;12446740;8125298;16169070;17207965;21900206 79020 C9JF90;C9K0L6;Q9BPX7 AACC02000040;ABBA01058178;AC010132;AK024820;AK225194;AK298865;AMYH01017204;BC000769;BC001845;CH236951;CH471073;DC303669;DC366585;NM_001099858;NM_024054 AAH00769;AAH01845;ADQ31787;BAB15019;BAG60985;EAL24004;EAW94148;EAW94149;EAW94150;NP_001093328;NP_076959;Q9BPX7 Hs.698120 1676568 RH94241 FLJ21167;MGC2821 OTTHUMP00000159093;OTTHUMP00000207371;OTTHUMP00000207372;OTTHUMP00000207374;OTTHUMP00000207375;UPF0415 protein C7orf25;hypothetical protein LOC79020 protein-coding ENSG00000136197 21703 09861 VALIDATED 1317399 C7 complement component 7 C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. [provided by RefSeq, Jul 2008] 5 5 p13 40945356 41018798 + 40909599 40983041 + 1599528;1599522;1599523;1580863;6480464;6907045;7240710 6241952;15724448;12574424 3052276;18029348;3335508;19344414;19221116;19179470;18842294;16335952;15889368;15879120;15489334;15383587;14760718;12595902;12477932;11378347;10886241;10882776;10551839;9856499;9218625;8892662;8871666;8814254;8364540;8345200;7814888;7730625;7523157;2792129;1672663;1517503;1387399;17266113;19913121;20628086;19162005;19419965;19423540;19834535;19864026;19931914;20237496;20406964;20438785;22206826 730 P10643;Q05CI3 ABBA01024227;AC026732;AC114967;AK290349;AK304848;AK312737;AMYH01015049;BC025402;BC041807;BC063851;BC065305;CH471119;J03507;NG_011692;NM_000587;X86328;X86344;Y11720 AAA51861;AAH25402;AAH63851;ADR82762;BAF83038;BAG35608;BAG65588;CAA60121;CAA72407;EAW56007;EAW56008;NP_000578;P10643 Hs.78065 1681356;1745113;1745535;1745537;1795458;2132758 C7_298;D5S2658;GDB:594803;GDB:623672;GDB:623675;RH80221 OTTHUMP00000197104;complement component C7 APPROVED protein-coding ENSG00000112936 1346 01957 217070;610102 REVIEWED 1317700 C7orf10 chromosome 7 open reading frame 10 This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 7 7 7 p14.1 40162765 40891115 + 40141100 40866882 + 40174575 40900366 + 6480464 18926513;15489334;14702039;12853948;12690205;12477932;11829489;9847074;19197348;20379614;8889548;20877624;19913121;20628086;23893049;22277967 79783 B7Z568;H0Y4N1;H7C0H3;H7C1N0;Q9HAC7 AACC02000039;AACC02000040;AB014767;ABBA01058154;ABBA01058155;ABBA01058156;ABBA01058157;ABBA01058158;ABBA01058159;ABBA01058160;AC004988;AC005030;AC005160;AC006023;AC025536;AC026866;AC079149;AC092030;AF397013;AK021870;AK296048;AK298516;AK299133;AK307935;AK308764;AMYH01017194;AMYH01017195;AMYH01017196;BC098117;BC098261;BC098310;BC098318;BM668297;CH236951;CH471073;NG_023422;NM_001193311;NM_001193312;NM_001193313;NM_024728 AAD26979;AAH98117;AAH98261;AAH98310;AAH98318;AAL76418;AAS01999;AAS02000;AAS07506;BAB13922;BAB87807;BAG58812;BAG61185;BAH12804;EAL24000;EAW94135;EAW94136;EAW94137;NP_001180240;NP_001180241;NP_001180242;NP_079004;Q9HAC7 Hs.586313 1334988;1337116;1647697;1660147;1709192;1756009;1756017;1768225;1774911;1786408;1788226;1788228;1788230;1790583;2114900;2121014;2122409;2144746;2147290;2156746;2157444;2163473;2164890;2169785;2176911;2181354;2182944;5017539;5037552;5491250;7183801;7186497 123XB10;C7orf10;D1S3168;D7S1468;D7S1472;D7S1587;D7S1769;D7S1930;D7S2328;D7S2524;D7S2541;D7S3090;D7S3091;D7S3094;D8S2279;GDB:1317746;GDB:1317950;GDB:1318090;GDB:1318194;GDB:1318400;GDB:1318489;GDB:4585101;HSC210_(7Gr40mb);MARC_5901-5902:991939787:5;RH45639;SHGC-142826;SHGC-142831;SHGC-171985;SHGC-34401;SHGC-85764 DERP13;FLJ11808;FLJ53872;ORF19 CaiB/baiF CoA-transferase family protein C7orf10;OTTHUMP00000207229;OTTHUMP00000207230;OTTHUMP00000207231;Russel-Silver syndrome candidate;dermal papilla derived protein 13;dermal papilla-derived protein 13 APPROVED protein-coding ENSG00000175600 16001 09859 231690;609187 REVIEWED 1317382 C7orf26 chromosome 7 open reading frame 26 7 7 7 p22.1 6086824 6105263 - 6596440 6614880 + 6629915 6648355 + 6480464 15489334;14702039;12477932;16169070;20133760;21907836 79034 H7BZK9;H7C0Q5;Q96N11 AACC02000124;ABBA01056495;ABBA01056496;AC079742;AK056149;AMYH01017041;BC001076;BC005121;CH236963;CH878731;NM_024067 AAH01076;AAH05121;BAB71104;EAW55021;EAW55022;NP_076972;Q96N11 Hs.487511 1670640;1847113;2117094;2120538;2131161;2142035;2142037 A008D23;D7S2646;GDB:4585098;RH12045;RH48523;SHGC-55949;STS-Z41394 MGC2718 OTTHUMP00000155172;OTTHUMP00000200655;hypothetical protein LOC79034;uncharacterized protein C7orf26 protein-coding ENSG00000146576 21702 12913 PROVISIONAL 1345356 C7orf34 chromosome 7 open reading frame 34 7 7 7 q34 137473461 137474817 + 142346721 142348077 + 142636603 142637957 + 737633 12477932 16189514;15489334;12690205 135927 Q96L11 AACC02000106;AB083483;AB083484;ABBA01034131;AC099652;AI990561;AMYH01018007;BC014596;CH236959;CH471198;NG_007492;NM_178829 AAH14596;BAB88941;BAB88942;EAL23778;EAW51894;EAW51895;NP_849151;Q96L11 Hs.239676 1683235;2121871 D7S2887;RH99241 ctm-1 MSSP-binding protein CTM-1;OTTHUMP00000202176;hypothetical protein LOC135927;uncharacterized protein C7orf34 protein-coding ENSG00000165131 21750 12922 VALIDATED 1349806 C7orf31 chromosome 7 open reading frame 31 7 7 7 p15.3 25163708 25209272 - 25140841 25186342 - 25174316 25219817 - 6480464 15489334;14702039;12853948;12477932;9847074;21832049 136895 C9J431;C9JF06;C9JTB1;Q8N865 AACC02000007;ABBA01056732;AC004129;AK097248;AK098189;AMYH01017122;BC015397;BC043269;BC060879;BI830207;BX640851;CH236948;CH471073;NM_138811 AAH15397;AAH43269;AAH60879;AAP22338;ADZ15585;BAC04985;BAC05255;CAE45919;EAL24238;EAW93825;EAW93826;EAW93827;EAW93828;NP_620166;Q8N865 Hs.122055 2177964 GDB:1317782 OTTHUMP00000158611;OTTHUMP00000202039;hypothetical protein LOC136895;uncharacterized protein C7orf31 protein-coding ENSG00000153790 21722 12919 VALIDATED 1342559 C7orf33 chromosome 7 open reading frame 33 7 7 7 q36.1 142958374 142983626 + 147918590 147943885 + 148287657 148312952 + 6480464 15489334;12690205;12477932 202865 Q8WU49 AACC02000041;ABBA01033596;AC005229;AMYH01018114;BC021251;CH471146;NM_145304 AAH21251;ADZ15654;EAL24420;EAW80075;EAW80076;EAW80077;NP_660347;Q8WU49 Hs.352212 2147894 GDB:3755045 OTTHUMP00000202308;hypothetical protein LOC202865;uncharacterized protein C7orf33 protein-coding ENSG00000170279 21724 12921 PREDICTED 1603878 C7orf41 chromosome 7 open reading frame 41 7 7 7 p14.3 30163906 30191735 + 30141077 30168906 + 30174552 30202381 + 6480464 14702039;12690205;12477932;9847074;17213182;20379614;21832049;21139048;19322201 222166 B8ZZW9;C9JBT1;Q8N3F0 AACC02000087;ABBA01056812;AC007036;AK055466;AK096533;AK294982;AL834391;AMYH01017147;AY054121;BC045592;BC062423;BI560774;CH471073;DT217816;NM_152793 AAI52892;AAI56840;AAL14866;BAC04811;BAG58051;CAD39053;EAL24456;EAW93934;EAW93935;EAW93936;NP_690006;Q8N3F0 Hs.200100 1651715;1659589;1672468;1677923;1679616;1727689;1774128;2131661;2153860 G63258;RH13728;RH28602;RH45752;RH45883;SHGC-31928;SHGC-53497;SHGC-56006;STS-H98629 Ells1;FLJ25903 OTTHUMP00000158708;UPF0452 protein C7orf41;hypothetical protein LOC222166;protein Ells1 protein-coding ENSG00000180354 25457 07635 VALIDATED 1605367 C7orf43 chromosome 7 open reading frame 43 7 7 7 q22.1 94487394 94491646 - 99589979 99594238 - 99752043 99756302 - 6480464 16381901;15489336;15489334;14702039;12690205;12477932;11256614;11230166;11076863;16169070 55262 B3KNS5;C9JMZ9;E9PFF9;F8WFE0;H0Y452;H7C1F8;Q8WVR3 AACC02000084;ABBA01013231;ABBA01013232;AC073842;AK001787;AK054872;AK302342;AK310170;AL136555;AMYH01017728;BC002749;BC015722;BC094727;CH236956;CH471091;NM_018275 AAH02749;AAH15722;BAA91911;BAG51437;BAG63670;CAB66490;CAL37853;EAL23848;EAW76580;EAW76581;EAW76582;EAW76583;NP_060745;Q8WVR3 Hs.533139 1774863;2134644 D7S2925;WI-20780 DKFZp761G0712;FLJ10925 OTTHUMP00000206833;OTTHUMP00000206843;OTTHUMP00000206870;hypothetical protein LOC55262;uncharacterized protein C7orf43 protein-coding ENSG00000146826 25604 07716 PREDICTED 1602100 C7orf49 chromosome 7 open reading frame 49 7 7 7 q33 129588008 129593008 - 134501077 134505987 - 134850532 134855578 - 6480464 17043244;16344560;12690205;12477932;15342556;8889548 78996 C9JKC7;Q9BWK5 AACC02000025;ABBA01001113;AC083862;AI632984;AK026103;AK130795;AL708733;AMYH01017955;BC000168;BC067350;BE674385;BG770658;BM727569;BP213903;BQ423284;CB961457;CH236950;CH471070;DA213716;DB129229;NM_001243749;NM_001243751;NM_001243752;NM_001243753;NM_001243754;NM_001243755;NM_024033 AAH00168;AAH67350;BAC85431;EAL24064;EAW83840;EAW83841;NP_001230678;NP_001230680;NP_001230681;NP_001230682;NP_001230683;NP_001230684;NP_076938;Q9BWK5 Hs.521213;Hs.732134 1685542;1697316;1735648 D7S2063E;RH102155;RH80739 FLJ22450;FLJ27285;MGC5242;MRI OTTHUMP00000208012;OTTHUMP00000208013;modulator of retrovirus infection homolog protein-coding ENSG00000122783 22432 08333 VALIDATED 1606950 C7orf55 chromosome 7 open reading frame 55 7 7 7 q34 133764065 133768709 + 138676615 138681605 + 139025196 139031065 + 6480464 16381901;15489336;14702039;12853948;12477932;11076863;8889548;20877624;16712791 154791 Q96HJ9 AA393224;AA620996;AACC02000025;ABBA01001188;AC083880;AF161386;AK093018;AMYH01017976;BC008467;BI117784;BM672187;BU852633;CB125801;CH236950;CH471070;NG_030012;NM_197964;NR_073058;NR_073059;NR_073060 AAF28946;AAH08467;AAS07478;ABM84075;ABM87443;CAL38025;EAW83912;EAW83913;EAW83914;EAW83915;NP_932068;Q96HJ9 Hs.718441 1650458;5015619;5015961;5022322;5022651;5024756;5037552 D11S2560;D11S2921;D11S3114;D15S1477;D8S2279;RH80030;SHGC-56728 FLJ35699;FMC1;HSPC268 OTTHUMP00000200424;UPF0562 protein C7orf55;formation of mitochondrial complexes 1 homolog protein-coding ENSG00000164898 26946 13714 VALIDATED 1603950 C7orf50 chromosome 7 open reading frame 50 7 7 7 p22.3 1004263 1143944 - 1003168 1144360 - 1036623 1177893 - 6480464 20834067;16341674;16189514;15146197;12477932;8889548;21145461;18482256;21832049;22990118;16196087;19471022;19953087;21139048;21907836;21628590 84310 C9JQV0;H7C0T1;H7C2R9;Q9BRJ6 AACC02000050;AACC02000129;AACC02000130;ABBA01039315;ABBA01039316;ABBA01039317;ABBA01039318;ABBA01039319;ABBA01039320;AC073957;AC091729;AF495721;AMYH01016946;AMYH01016947;AMYH01016948;AMYH01016949;AMYH01016950;AMYH01016951;AMYH01016952;BC006224;BC025971;BM676072;BM763235;CH236953;CH236965;CH471144;CN261680;NM_001134395;NM_001134396;NM_032350 AAH06224;AAH25971;AAQ06675;EAW87188;EAW87189;EAW87190;NP_001127867;NP_001127868;NP_115726;Q9BRJ6 Hs.653258;Hs.732316 1697044;1765393;1765933;1774795;1775742;1797604;1856229;2120030;2135708;2142692;2166947;2167318;5017686 D7S2090E;D7S2826;GPR146_2063;GPR30;RH102001;RH11876;RH65680;RH70704;SHGC-148880;SHGC-149337;SHGC-32510;SHGC-34866;STS-N27306 MGC11257;YCR016W OTTHUMP00000200082;OTTHUMP00000200083;OTTHUMP00000200084;OTTHUMP00000200094;OTTHUMP00000213381;hypothetical protein LOC84310;hypothetical protein mgc11257;uncharacterized protein C7orf50 protein-coding ENSG00000146540 22421 14413 VALIDATED 1602147 C7orf61 chromosome 7 open reading frame 61 7 7 7 q22.1 94784037 94791693 - 99892174 99899830 - 100054238 100061894 - 12690205;12477932;17207965 402573 H7C3K1;Q8IZ16 AACC02000084;ABBA01013210;ABBA01013211;ABBA01013212;ABBA01013213;AC092849;AMYH01017735;BC031966;CH236956;NM_001004323 AAH31966;ADQ32435;EAL23832;NP_001004323;Q8IZ16 Hs.632306 1339079;1652662;1682351;1759619;7187384 D7S2480;GDB:1317218;RH92106;SHGC-153234 OTTHUMP00000196705;hypothetical protein LOC402573;uncharacterized protein C7orf61 protein-coding ENSG00000185955 22135 17558 PREDICTED 2303475 C7orf65 chromosome 7 open reading frame 65 7 7 7 p12.3 47795219 47801624 + 47661402 47665351 + 47694842 47701246 + 16344560;12690205 401335 Q6ZTY9 AACC02000093;ABBA01041094;AC095067;AK126096;AMYH01017229;CH236958;DB341636;NM_001123065 BAC86438;EAL23804;NP_001116537;Q6ZTY9 Hs.520816 5015619;5022578;5037552 D11S3114;D1S1423;D8S2279 FLJ44108 protein;OTTHUMP00000208225;hypothetical protein LOC401335;uncharacterized protein C7orf65 protein-coding ENSG00000221845 34432 VALIDATED 1642900 C7orf57 chromosome 7 open reading frame 57 7 7 7 p12.3 48174395 48200108 + 48041642 48067418 + 48075108 48100894 + 6480464 19193627;12477932;20379614 136288 C9JQZ6;F5H7J8;J3KQX6;Q86XB5;Q8NEG2 AACC02000093;ABBA01041079;ABBA01041080;AC069279;AMYH01017234;BC031107;BC045737;BI560654;CH236958;NM_001100159;NM_001267865;NM_001267866 AAH31107;AAH45737;NP_001093629;NP_001254794;NP_001254795;Q8NEG2 Hs.258357 OTTHUMP00000208687;OTTHUMP00000208689;OTTHUMP00000208690;hypothetical protein LOC136288;uncharacterized protein C7orf57 protein-coding ENSG00000164746 22247 VALIDATED 1606444 C7orf66 chromosome 7 open reading frame 66 7 7 7 q31.1 103336979 103337578 - 108311274 108311873 - 108524038 108524637 - 12690205;9887257;22006218;22219177 154907 A4D0T2 AACC02000004;ABBA01057887;AC004014;AF103078;AF103195;AMYH01017840;CH236947;NM_001024607 A4D0T2;AAD16519;AAD30755;EAL24381;NP_001019778 Hs.276325;Hs.638689 1704602 SHGC-83114 OTTHUMP00000206841;Putative uncharacterized protein LOC154907;hypothetical protein LOC154907;uncharacterized protein C7orf66;uncharacterized protein LOC154907-like protein-coding ENSG00000205174 33712 18563 PREDICTED 1606951 C7orf60 chromosome 7 open reading frame 60 7 7 7 q31.1 107271822 107392595 - 112246438 112367168 - 112459202 112579932 - 6480464 18951430;16344560;14702039;12477932;20379614 154743 H0Y6Y0;Q1RMZ1 AACC02000001;ABBA01057838;ABBA01057839;ABBA01057840;ABBA01057841;AC018464;AC073183;AF274937;AK056380;AK299901;AL834437;AMYH01017862;BC114615;CH236947;CH471070;DA738444;NM_152556 AAI14616;BAB71169;BAG61743;CAD39097;EAW83473;EAW83474;NP_689769;Q1RMZ1 Hs.489734 1852676;2147601 D7S2885;G17120 FLJ31818 OTTHUMP00000207494;OTTHUMP00000207495;UPF0532 protein C7orf60;hypothetical protein LOC154743;probable methyltransferase BTM2 homolog protein-coding ENSG00000164603 26475 08108 VALIDATED 2902413 C7orf72 chromosome 7 open reading frame 72 7 7 7 p12.2 50229773 50293484 + 50106348 50169398 + 50135682 50198852 + 6480464 12690205;12853948;20379614 100130988 A4D263 AACC02000076;ABBA01008171;AC020743;AC034148;AI696031;AMYH01017244;BX092263;CH236955;DY654485;NM_001161834 A4D263;EAL23902;NP_001155306 Hs.99248 OTTHUMP00000208843;hypothetical protein LOC100130988;uncharacterized protein C7orf72 protein-coding 22564 VALIDATED 1603879 C7orf62 chromosome 7 open reading frame 62 7 7 7 q21.13 83128231 83129842 - 88261357 88262967 - 88423420 88425031 - 12690205;12477932;17207965;22493691 219557 Q8TBZ9 AACC02000015;ABBA01045858;AC002127;AMYH01017673;BC028365;CH236949;CH471091;HC007144;HC044757;NM_152706 AAH28365;ADQ31577;CBH19377;CBH30708;EAL24169;EAW76902;NP_689919;Q8TBZ9 Hs.112877 MGC26647 OTTHUMP00000204499;hypothetical protein LOC219557;uncharacterized protein C7orf62 protein-coding ENSG00000164645 22402 14507 VALIDATED 1605032 C7orf69 chromosome 7 open reading frame 69 7 7 7 p12.3 47933226 47957778 + 47801414 47825970 + 47834889 47859445 + 12690205;12853948;12477932 80099 C9JS17;Q9H7B7 AACC02000093;ABBA01041084;AC019066;AC069282;AK024728;AMYH01017230;AMYH01017231;BC113679;BC113681;CA420605;CH236958;CH471128;NM_025031 AAI13680;AAI13682;AAS07564;BAB14977;EAL23806;EAW61008;NP_079307;Q9H7B7 Hs.287647 FLJ21075 OTTHUMP00000208381;hypothetical protein LOC80099;uncharacterized protein C7orf69 protein-coding ENSG00000136275 21911 08635 VALIDATED 3030166 C7orf71 chromosome 7 open reading frame 71 7 7 7 p15.2 26666461 26675896 + 26644015 26653493 + 26677490 26686924 + 12107410;12477932;12690205;14702039 285941 A4D174 AACC02000007;ABBA01056751;AC003999;AK093321;AMYH01017129;AMYH01017130;BC112220;BC112222;BC143810;CA390440;CH236948;NM_001145531 A4D174;EAL24232;NP_001139003 Hs.413394 1652932 STS-N29318 OTTHUMP00000202568;hypothetical protein LOC285941;putative uncharacterized protein C7orf71;uncharacterized protein LOC285941 protein-coding ENSG00000222004 22364 PREDICTED 1604426 C7orf76 chromosome 7 open reading frame 76 7 7 7 q21.3 90810971 90832868 - 95948874 95970771 - 96110938 96132835 - 12477932;19801982;22504420 401388 B7ZVW6;Q6ZVN7 AACC02000013;ABBA01045766;AC092031;AK124274;AMYH01017701;BC140736;BC171740;CH236949;NM_001201450;NM_001201451 AAI40737;AAI71740;BAC85824;NP_001188379;NP_001188380;Q6ZVN7 Hs.734935 hypothetical protein LOC401388;putative uncharacterized protein C7orf76;putative uncharacterized protein FLJ42280 APPROVED protein-coding ENSG00000197851 33815 16959 VALIDATED 1352674 C8B complement component 8, beta polypeptide This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 p32.2 57167471 57204276 - 57394883 57431688 - 1600501;1580863;6480464;6907045;7240710 7515561 3052276;2820472;19344414;18842294;16710414;16618117;16335952;16199891;12477932;12413696;12220191;11041874;10551839;10387094;9476128;8345200;19162005;19423540;8131848;8098723;7440581;3651397;3624872;3171181;19864026;20237496;20406964;20438785;1360193;16624411;21073882;21454577;2284574;2571125;2613233;2759635;3435043;3676249;3879968;451601;468996;6415112;7594510;7710765;8020197;8365729;9165271;9476133 732 F5GY80;F5H7G1;P07358;Q05CV3 ABBA01074676;AK292740;AK298425;AK298444;AK313382;AK316209;AL121998;AMYH01000645;BC020701;BC130575;CD364465;CH471059;M16973;NG_007285;NM_000066;NM_001278543;NM_001278544;X04393 AAA51862;AAH20701;AAI30576;ADR83218;BAF85429;BAG36180;BAH12786;BAH12791;BAH14580;CAA27981;EAX06641;EAX06642;EAX06643;NP_000057;NP_001265472;NP_001265473;P07358 Hs.391835 1652324;1658705;1669058;1722349;1742987;1743585;1777699;2120524;2172444;2178855 D1S519;G60243;GDB:228022;GDB:352688;L17910;SHGC-33530;SHGC-74868;SHGC-74885;SHGC-74888;WI-8974 C82;MGC163447 OTTHUMP00000010015;complement component 8 subunit beta;complement component C8 beta chain APPROVED protein-coding ENSG00000021852 1353 00410 120960;613789 REVIEWED 1352401 C8orf16 chromosome 8 open reading frame 16 8 p23.1 11021390 11025155 - 83735 AF131215;AJ312026;CH471157;NM_001014439 CAC84873;EAW65603;NP_001014439;Q8TCU9 Hs.660259 miscrna 15628 18701 1605631 C7orf63 chromosome 7 open reading frame 63 7 7 7 q21.13 84578592 84644463 + 89712461 89777624 + 89874488 89940377 + 6480464 18288132;14702039;12477932;8889548;20379614 79846 A5D8W1;F8WBX7;H7BZV2;H7C002;H7C076;H7C3Z7;H7C468 AACC02000015;ABBA01045840;ABBA01045841;AC002064;AK024715;AK093991;AK302636;AK303034;AL833446;AMYH01017680;AMYH01017681;AY349356;BC036351;BC132771;BC140742;BC141834;BC142655;BF112239;BU676209;CH236949;DC402406;NM_001039706;NM_001160138 A5D8W1;AAH36351;AAI32772;AAI40743;AAI41835;AAI42656;AAQ56720;BAB14972;BAG63878;BAG64159;NP_001034795;NP_001153610 Hs.657403 1670164;1735700;1800462;1803324;1806462;1806960;1807910;1808616;1808618;1808970;1809408;1809856;1809858;1810420;1812944;1814484;1815000;1816636;1820134;1820292;1821204;1822812;1823674;1824424;1825526;1829232;1829836;1830246;1830484;1831334;1831610;1832030;1832306;1832672;1833378;1833588;1833912;1834312;1835864;1836334;1836712;1836828;1837198;1837248;1837664;1838004;1838884;1839358;1840074;1840210;1840592;1840808;1841206;1843742;1843976;1844332;1844928;1845310;1846060;1846820;1858438;2070414;2070416;2070418;2070420;2070422;2070424;2070426;2070428;2070430;2070432;2070434;2070436;2070438;2070440;2070442;2070444;2070446;2070448;2070450;2070452;2070454;2070456;2070458;2070460;2070462;2070464;2070466;2070468;2070470;2070472;2070474;2070476;2070478;2070480;2070482;2070484;2070486;2070488;2070490;2070492;2070494;2070496;2070498;2070500;2070502;2070504;2070506;2070508;2070510;2070512;2070514;2070516;2070518;2070520;2070522;2070524;2070526;2070528;2070530;2070532;2070534;2070536;2070538;2070540;2070542;2070544;2070546;2070548;2070550;2070552;2070554;2070556;2070558;2070560;2070562;2070564;2070566;2070568;2070570;2070572;2070574;2070576;2070578;2070580;2070582;2070584;2070586;2070588;2070590;2070592;2070594;2070596;2070598;2070600;2070602;2070604;2070606;2070608;2070610;2070612;2070614;2070616;2070618;2070620;2070622;2070624;2070626;2070628;2070630;2070632;2070634;2070636;2070638;2070640;2070642;2070644;2070646;2070648;2070650;2070652;2070654;2070656;2070658;2070660;2070662;2070664;2070666;2070668;2070670;2070672;2070674;2070676;2070678;2070680;2070682;2070684;2070686;2070688;2070690;2070692;2070694;2070696;2070698;2070700;2070702;2070704;2070706;2070708;2070710;2070712;2070714;2070716;2070718;2070720;2070722;2070724;2070726;2070728;2070730;2070732;2070734;2070736;2070738;2070740;2070742;2070744;2070746;2070748;2070750;2070752;2070754;2070756;2070758;2070760;2070762;2070764;2070766;2070768;2070770;2070772;2070774;2070776;2070778;2070780;2070782;2070784;2070786;2070788;2070790;2070792;2070794;2070796;2070798;2070800;2070802;2070804;2070806;2070808;2070810;2070812;2070814;2070816;2070818;2070820;2070822;2070824;2070826;2070828;2070830;2070832;2070834;2070836;2070838;2070840;2070842;2070844;2070846;2070848;2070850;2070852;2070854;2070856;2070858;2070860;2070862;2070864;2070866;2070868;2070870;2070872;2070874;2070876;2070878;2070880;2070882;2070884;2070886;2070888;2070890;2070892;2070894;2070896;2070898;2070900;2070902;2070904;2070906;2070908;2070910;2070912;2070914;2070916;2070918;2070920;2070922;2070924;2070926;2070928;2070930;2070932;2070934;2070936;2070938;2070940;2070942;2070944;2070946;2070948;2070950;2070952;2070954;2070956;2070958;2070960;2070962;2070964;2070966;2070968;2070970;2070972;2070974;2070976;2070978;2070980;2070982;2070984;2070986;2070988;2070990;2070992;2070994;2070996;2070998;2071000;2071002;2071004;2071006;2194066;2194068;2194070;2194072;2194074;2194076;2194078;2194080;2194082;2194084;2194086;2194088;2194090;2194092;2194094;2194096;2194098;2194100;2194102;2194104;2194106;2194108;2194110;2194112;2194114;2194116;2194118;2194120;2194122;2194124;2194126;2194128;2194130;2194132;2194134;2194136;2194138;2194140;2194142;2194144;2194146;2194148;2194150;2194152;2194154;2194156;5014019;5015861;5019046;5020948;5022578;7185938 D10S16;D1S1423;D5S2354;D7S1641;D7S2152E;ECD01091;ECD02558;ECD04187;ECD04445;ECD04930;ECD05290;ECD05291;ECD05468;ECD05696;ECD05920;ECD05921;ECD06203;ECD07486;ECD08272;ECD08531;ECD09361;ECD11141;ECD11221;ECD11679;ECD12494;ECD12929;ECD13310;ECD13871;ECD15745;ECD16051;ECD16257;ECD16377;ECD16803;ECD16942;ECD17153;ECD17292;ECD17477;ECD17832;ECD17938;ECD18102;ECD18304;ECD19093;ECD19329;ECD19520;ECD19578;ECD19766;ECD19791;ECD19999;ECD20173;ECD20621;ECD20861;ECD21221;ECD21289;ECD21486;ECD21596;ECD21798;ECD23082;ECD23200;ECD23380;ECD23680;ECD23872;ECD24250;G17188;G35510;G43535;REN106398;REN106399;REN106400;REN106401;REN106402;REN106403;REN106404;REN106405;REN106406;REN106407;REN106408;REN106409;REN106410;REN106411;REN106412;REN106413;REN106414;REN106415;REN106416;REN106417;REN106418;REN106419;REN106420;REN106421;REN106422;REN106423;REN106424;REN106425;REN106426;REN106427;REN106428;REN106429;REN106430;REN106431;REN106432;REN106433;REN106434;REN106435;REN106436;REN106437;REN106438;REN106439;REN106440;REN106441;REN106442;REN106444;REN106445;REN106446;REN106447;REN106448;REN106449;REN106450;REN106451;REN106452;REN106453;REN106454;REN106455;REN106456;REN106457;REN106458;REN106459;REN106460;REN106461;REN106462;REN106463;REN106464;REN106465;REN106466;REN106467;REN106468;REN106469;REN106470;REN106471;REN106472;REN106473;REN106474;REN106475;REN106476;REN106477;REN106478;REN106479;REN106480;REN106481;REN106482;REN106483;REN106484;REN106485;REN106486;REN106487;REN106488;REN106489;REN106490;REN106491;REN106492;REN106493;REN106494;REN106495;REN106496;REN106497;REN106498;REN106499;REN106500;REN106501;REN106502;REN106503;REN106504;REN106505;REN106506;REN106507;REN106508;REN106509;REN106510;REN106511;REN106512;REN106513;REN106514;REN106515;REN106516;REN106517;REN106518;REN106519;REN106520;REN106521;REN106522;REN106523;REN106524;REN106525;REN106526;REN106527;REN106528;REN106529;REN106530;REN106531;REN106532;REN106533;REN106534;REN106535;REN106536;REN106537;REN106538;REN106539;REN106540;REN106541;REN106542;REN106543;REN106544;REN106545;REN106546;REN106547;REN106548;REN106549;REN106550;REN106551;REN106552;REN106553;REN106554;REN106555;REN106556;REN106557;REN106558;REN106559;REN106560;REN106561;REN106562;REN106563;REN106564;REN106565;REN106566;REN106567;REN106568;REN106569;REN106570;REN106571;REN106572;REN106573;REN106574;REN106575;REN106576;REN106577;REN106578;REN106579;REN106580;REN106581;REN106582;REN106583;REN106584;REN106585;REN106586;REN106587;REN106588;REN106589;REN106590;REN106591;REN106592;REN106593;REN106594;REN106595;REN106596;REN106597;REN106598;REN106599;REN106600;REN106601;REN106602;REN106603;REN106604;REN106605;REN106606;REN106607;REN106608;REN106609;REN106610;REN106611;REN106612;REN106613;REN106614;REN106615;REN106616;REN106617;REN106618;REN106619;REN106620;REN106621;REN106622;REN106623;REN106624;REN106625;REN106626;REN106627;REN106628;REN106629;REN106630;REN106631;REN106632;REN106633;REN106634;REN106635;REN106636;REN106637;REN106638;REN106639;REN106640;REN106641;REN106642;REN106643;REN106644;REN106645;REN106646;REN106647;REN106648;REN106649;REN106650;REN106651;REN106652;REN106653;REN106654;REN106655;REN106656;REN106657;REN106658;REN106659;REN106660;REN106661;REN106662;REN106663;REN106664;REN106665;REN106666;REN106667;REN106668;REN106669;REN106670;REN106671;REN106672;REN106673;REN106674;REN106675;REN106676;REN106677;REN106678;REN106679;REN106680;REN106681;REN106682;REN106683;REN106684;REN106685;REN106686;REN106687;REN106688;REN106689;REN106690;REN106691;REN106692;REN106693;REN106694;REN106695;STS-AA035745;stSG614497;stSG614498;stSG614499;stSG614500;stSG614501;stSG614502;stSG614503;stSG614504;stSG614505;stSG614506;stSG614507;stSG614508;stSG614509;stSG614510;stSG614512;stSG614513;stSG614514;stSG614515;stSG614516;stSG614517;stSG614518;stSG614519;stSG614520;stSG614521;stSG614522;stSG614523;stSG614524;stSG614525;stSG614526;stSG614527;stSG614528;stSG614529;stSG614530;stSG614531;stSG614532;stSG614533;stSG614534;stSG614535;stSG614536;stSG614537;stSG614538;stSG614539;stSG614541;stSG614542;stSG614543;stSG614544 FLJ21062 OTTHUMP00000067737;OTTHUMP00000212899;hypothetical protein LOC79846;uncharacterized protein C7orf63 protein-coding ENSG00000105792 26107 08633 VALIDATED 1354286 C8orf17 chromosome 8 open reading frame 17 56988 Q9NRJ1 AF220264;NM_020237 17737 2300134 C8orf28 chromosome 8 open reading frame 28 q21.3 552862 BI767459 Hs.674222 chromosome 8 open reading frame 28 protein-coding 25912 2300133 C8orf29 chromosome 8 open reading frame 29 p12 552863 BQ426089 Hs.583797 chromosome 8 open reading frame 29 protein-coding 15681 1318077 C8A complement component 8, alpha polypeptide C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008] 1 1 p32 57093065 57156482 + 57320443 57383894 + 1600501;1580863;6480464;6907045;7240710 7515561 3052276;6771072;2820471;12413696;19048311;18842294;18440555;17872444;16935577;16761437;16710414;16618117;16335952;12477932;12463754;12220191;11297196;11041874;10551839;10387094;9759902;9647238;7759071;7649542;7544344;7440581;4063341;3624872;3171181;1551680;19423540;20237496;20379614;20406964;20438785;19913121;20628086;21507937 731 P07357;Q05CV2 ABBA01074676;AK309596;AL121998;AMYH01000645;BC020702;BC132911;BC132913;CH471059;M16974;NG_012049;NM_000562;U08006 AAA52200;AAA82124;AAH20702;AAI32912;AAI32914;ADR83082;EAX06644;EAX06645;EAX06646;NP_000553;P07357 Hs.93210 1658627;1709886;1718245;1760639;1797340;2159336;2163445 C8A_1366;D1S3432;RH122892;RH17669;RH64775;SHGC-144179;SHGC-84784 OTTHUMP00000010016;complement component 8 subunit alpha;complement component C8 alpha chain APPROVED protein-coding ENSG00000157131 1352 00409 120950;613790 REVIEWED 5480038 C7orf73 chromosome 7 open reading frame 73 7 7 q33 134997446 135011700 + 135347221 135361160 + 6480464 12477932;16344560;17720804;8889548 647087 E0CX11 AACC02000025;ABBA01001123;ABBA01001124;AC091736;AC093107;AMYH01017959;BC016741;BC021734;BC031327;BC047474;BC063529;BC073942;BC107765;BM979743;CH236950;DA785733;NM_001130929 E0CX11;NP_001124401 Hs.200022 1643939;1682245;1744281;1762395;1776607 GDB:451559;RH26240;RH68700;SHGC-146230;STS-H98777 PL-5283 OTTHUMP00000221117;PL-5283 protein;uncharacterized protein C7orf73 protein-coding 41909 VALIDATED 1353709 C8orf12 chromosome 8 open reading frame 12 8 8 8 p23.1 10353939 10425009 + 11263321 11333577 + 11225911 11296166 + 12477932;11896452;20125193 83656 Q96KT0 ABBA01026880;ABBA01026881;AF131216;AJ301563;AMYH01018480;BC080558;CH471157;NR_026814 CAC82739;EAW65615;Q96KT0 Hs.583896 1340902;1658235;1713179;1850746;2119439;2174336;5093498 A009P42;D8S265;G32753;RH120376;RH66428;SGC33822;STS-W67504 miscrna ENSG00000184608 15548 PREDICTED 1319211 C8G complement component 8, gamma polypeptide The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011] 9 9 q34.3 138959534 138961240 + 139839698 139841426 + 1580863;6480464;6907045 8172891;3052276;19048311;18440555;17452033;16935577;16618117;16341674;15164053;12477932;12413696;12220191;12033936;11058761;11041874;10387094;9476128;8865989;3676249;2447883;2446620;1707134;19423540;20406964;20438785 733 P07360;Q5SQ08 ABBA01022733;AL807752;AMYH01021881;AW663384;BC113624;BC113626;BM852158;BX282392;CH471090;M17263;M17999;NG_029580;NM_000606;U08198;X06465 AAA18482;AAA51863;AAA51888;AAI13625;AAI13627;ADR83494;CAA29773;EAW88316;NP_000597;P07360 Hs.1285 2158636;5492759;5493443 UniSTS:482381;UniSTS:486325;WI-6981 C8C;MGC142186 OTTHUMP00000022634;complement component C8 gamma chain APPROVED protein-coding ENSG00000176919 1354 00407 120930 REVIEWED 1605484 C8orf15 chromosome 8 open reading frame 15 8 p23.1 11018292 11019012 - 12477932 439940 AF131215;AJ312027;BC132953;BC132979;CH471157;NM_001033662 AAI32954;AAI32980;CAC84874;EAW65602;NP_001028834;Q8TCU8 Hs.661517 protein-coding 15627 1606663 C8orf31 chromosome 8 open reading frame 31 8 8 8 q24.3 140430937 140445971 + 144192054 144207095 + 144120679 144135720 + 14702039;12477932 286122 Q8N9H6 ABBA01005274;ABBA01005275;AC083982;AK094450;AMYH01019098;BC063497;BC073830;BC120993;CH471162;NM_173687 AAH73830;BAC04358;EAW82281;EAW82282;EAW82283;NP_775958;Q8N9H6 Hs.660382 5037552 D8S2279 FLJ37131;MGC90155 OTTHUMP00000227437;hypothetical protein LOC286122;uncharacterized protein C8orf31 protein-coding ENSG00000177335 26731 08781 PREDICTED 1349468 C8orf22 chromosome 8 open reading frame 22 8 8 8 q11 45972114 45975853 + 50147456 50151195 + 49966895 49988642 + 6480464 15489334;12477932;11329013;16344560 492307 Q8WWR9 ABBA01041660;AC044893;AJ276240;AMYH01018706;BC017981;BG202040;BX500169;CH471068;DA820911;DA900243;NM_001007176;NM_001256596;NM_001256597;NM_001256598 AAH17981;ACT64579;ACT64580;CAC81690;EAW86701;EAW86702;EAW86703;NP_001007177;NP_001243525;NP_001243526;NP_001243527;Q8WWR9 Hs.49890;Hs.741050 1700524;1735446;1735740 D5S1577E;D8S1355E;RH103883 OTTHUMP00000226209;OTTHUMP00000226210;OTTHUMP00000226211;OTTHUMP00000226294;exocrine differentiation and proliferation factor-like protein;pancreatic progenitor cell differentiation and proliferation factor-like protein protein-coding ENSG00000168333 31745 16670 VALIDATED 1606509 C8orf33 chromosome 8 open reading frame 33 8 8 8 q24.3 142454766 142458407 + 146248630 146252220 + 146277824 146281416 + 6480464 16344560;12477932;21145461;16169070;21832049;21900206;21139048;21907836 65265 Q9H7E9 ABBA01005190;AC139103;AF086170;AK024642;AMYH01019165;BC010001;BC015181;BX648996;CH471162;CR457330;DA467518;NM_023080 AAH10001;AAH15181;BAB14943;CAG33611;EAW82022;EAW82023;NP_075568;Q9H7E9 Hs.169615 1677568 RH65235 FLJ20989 OTTHUMP00000229101;UPF0488 protein C8orf33;hypothetical protein LOC65265 protein-coding ENSG00000182307 26104 07951 VALIDATED 1605303 C8orf34 chromosome 8 open reading frame 34 8 8 8 q13 65343493 65724632 + 69512702 69893811 + 69242957 69731258 + 6480464 14702039;12477932;8889548;22664479;23314748;21732829;23251661 116328 E5RJD9;Q49A92 AB056652;ABBA01041912;ABBA01041913;ABBA01041914;AC011884;AC067871;AC083967;AC090096;AK094191;AK094650;AK291436;AL834454;AMYH01018779;BC041961;BC143425;BM684412;CH471068;NM_001195639;NM_052958 AAH41961;BAB64433;BAC04304;BAC04395;BAF84125;CAD39114;EAW86945;EAW86946;EAW86947;EAW86948;EAW86949;NP_001182568;NP_443190;Q49A92 Hs.491941 1338544;1647742;1704528;1705114;1711290;1720863;1734080;1749163;1750477;1752431;1767627;1786546;1850408;2114198;2139426;2148262;2152111;5021872;5037552 D7S2658;D8S1380E;D8S1495;D8S1582;D8S1792;D8S2279;D8S23;G32204;G59259;RH18165;SHGC-106363;SHGC-110852;SHGC-111385;SHGC-111787;SHGC-79977;SHGC-83060;SHGC-84172;WI-20666;sY3084 DKFZp547E186;FLJ36872;FLJ37331;VEST1 A830018L16Rik;OTTHUMP00000226698;OTTHUMP00000226700;OTTHUMP00000226701;hypothetical protein LOC116328;protein VEST-1;uncharacterized protein C8orf34;vestibule 1;vestibule-1 protein protein-coding ENSG00000165084 30905 18281 VALIDATED 7243524 C8orf44-SGK3 C8orf44-SGK3 readthrough This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011] 10548550;10585774;12397388;14702039;15489334;16460280;16790420;16959974;17344846;20967262 100533105 Q96BR1 ABBA01041876;ABBA01041877;ABBA01041878;ABBA01041879;ABBA01041880;ABBA01041881;ABBA01041882;AC011031;AC090154;AMYH01018773;AMYH01018774;NM_001204173 NP_001191102;Q96BR1 Hs.613417 1855803;2118769;5014740;5015619;5015961;5022322;5037552 D11S2560;D11S3114;D15S1477;D17S610;D8S2279;SHGC-36195;STS-H98714 cytokine-independent survival kinase;serine/threonine-protein kinase Sgk3;serum/glucocorticoid-regulated kinase 3 protein-coding 48354 VALIDATED 1606135 C8orf37 chromosome 8 open reading frame 37 This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012] 8 8 8 q22.1 92443250 92466452 - 96327411 96350613 - 96257141 96281462 - 14702039;12477932;20379614;16344560;22177090;20301590;23251661 157657 F4Y588;Q96NL8 AA897574;ABBA01037480;AC024995;AK055162;AMYH01018901;AP003466;BC036855;BC150301;CH471060;DA473498;DB205618;GQ240139;NG_032804;NM_177965 AAI72331;ADE62519;BAB70866;EAW91744;EAW91745;NP_808880;Q96NL8 Hs.548157 1675804;1777927;5020948 G35510;RH99292;SHGC-56949 CORD16;FLJ30600;RP64;smalltalk OTTHUMP00000227184;hypothetical protein LOC157657;protein C8orf37;uncharacterized protein C8orf37 APPROVED protein-coding ENSG00000156172 27232 14104 614477;614500 REVIEWED 1349776 C8orf5 chromosome 8 open reading frame 5 203080 AJ305312;NM_182754 15539 1606262 C8orf44 chromosome 8 open reading frame 44 8 8 8 q13.1 63581240 63586021 + 67751008 67755789 + 67579787 67593384 + 6480464 15489334;14702039;12477932;16344560 56260 E5RJQ3;Q96CB5 AA551208;ABBA01041876;AC090154;AK002129;AMYH01018773;BC014448;CH471068;DA341401;NM_019607 AAH14448;BAA92096;EAW86917;EAW86918;NP_062553;Q96CB5 Hs.661238 FLJ11267 OTTHUMP00000226970;OTTHUMP00000226971;putative uncharacterized protein C8orf44 protein-coding ENSG00000213865 25646 07744 VALIDATED 1601950 C8orf57 chromosome 8 open reading frame 57 q21.3 11230166 84257 Q9BQG3 AL136588 CAB66523;Q9BQG3 Hs.492187 DKFZp761D112 protein-coding 25411 1346279 C8orf4 chromosome 8 open reading frame 4 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [provided by RefSeq, Nov 2011] 8 8 p11.2 40130146 40131978 + 40010987 40012827 + 6480464 17520678;18959821;17905836;17603013;22658654;17178857;16740781;16424001;15489334;15185345;15087392;12477932;11056052;8889548;17207965;19684084;20878554;21139048;19322201;23377761 56892 Q9NR00 ABBA01015904;AC022733;AF268037;AF268038;AI861861;AI935347;AK026240;AMYH01018657;BC020623;BC021672;BM976768;BX434108;CH471080;NM_020130 AAF78961;AAH20623;AAH21672;ACE87044;ACE87727;ADQ33213;EAW63268;NP_064515;Q9NR00 Hs.591849;Hs.644772 1698842 RH102985 MGC22806;TC-1;TC1;hTC-1 OTTHUMP00000225689;human thyroid cancer 1;thyroid cancer protein 1;thyroid cancer-1;uncharacterized protein C8orf4 APPROVED protein-coding ENSG00000176907 1357 09650 607702 REVIEWED 1353747 C8orf6 chromosome 8 open reading frame 6 8 11032417 11032701 - 203081 NM_145656 15542 2304146 C8orf48 chromosome 8 open reading frame 48 8 8 8 p22 12389653 12391098 + 13468723 13470172 + 13424352 13425797 + 6480464 16189514;12477932;8889548;19060904 157773 Q96LL4 ABBA01021622;AC022832;AF394908;AK058131;AK058156;AMYH01018529;BC031245;CB306127;CH471080;NM_001007090 AAH31245;AAQ02889;BAB71677;BAB71692;EAW63850;NP_001007091;Q96LL4 Hs.104941 1688975 RH92548 FLJ25402 OTTHUMP00000229934;hypothetical protein LOC157773;uncharacterized protein C8orf48 protein-coding ENSG00000164743 26345 16922 VALIDATED 1606129 C8orf47 chromosome 8 open reading frame 47 8 8 8 q22.2 95262686 95291703 + 99145926 99175014 + 99076750 99105838 + 6480464 14702039;12477932;20208534;21906983 203111 Q6P6B1 ABBA01037532;AI697720;AK096872;AMYH01018915;AMYH01018916;AP003352;AP003439;BC062359;CH471060;NM_001170806;NM_173549 AAH62359;BAC04880;EAW91772;EAW91773;NP_001164277;NP_775820;Q6P6B1 Hs.171455 1786704 SHGC-154724 FLJ39553 OTTHUMP00000227641;hypothetical protein LOC203111;uncharacterized protein C8orf47 protein-coding ENSG00000177459 26823 08802 VALIDATED 2300141 C8orf63 chromosome 8 open reading frame 63 q24.3 619339 BQ919341 chromosome 8 open reading frame 63 protein-coding 21804 1602381 C8orf66 chromosome 8 open reading frame 66 q24.3 619427 AL834492 Hs.638555 DKFZp434O0331 protein-coding 32282 1603174 C8orf56 chromosome 8 open reading frame 56 8 8 q22.3 100332034 100340409 - 104145191 104153570 - 12477932;21832049 157556 P0C853 ABBA01037630;AMYH01018944;AP003550;BC029562;BC071743;NR_027071 P0C853 Hs.459124 MGC39526 miscrna ENSG00000236939 28595 VALIDATED 2300140 C8orf69 uncharacterized LOC619344 8 q22.1 96219235 96228602 - 619344 AA469917;ABBA01037479;ABBA01037480;AMYH01018900;AMYH01018901;AP003466;AW103292;NR_046232 Hs.741630 chromosome 8 open reading frame 69 APPROVED miscrna ENSG00000253351 VALIDATED 2300142 C8orf67 chromosome 8 open reading frame 67 p23.3 10737800 619338 BF742662 Hs.678836 chromosome 8 open reading frame 67 protein-coding 21519 1601708 C8orf46 chromosome 8 open reading frame 46 8 8 8 q13.1 63398468 63423736 + 67568321 67593294 + 67405491 67430759 + 6480464 15489334;14702039;12477932 254778 E5RH60;E5RJS6;E5RKA6;Q8TAG6;R4GNJ7 ABBA01041871;AC009879;AK055047;AK096336;AK294261;AK308800;AK315486;AMYH01018773;BC028400;CH471068;DC344091;H17010;NM_152765 AAH28400;ACT64493;ACT64494;BAG37870;BAG57555;EAW86908;EAW86909;EAW86910;NP_689978;Q8TAG6 Hs.268869 1661554;1673195;1676652;1777739;2120644;2147864 1978;A002V38;D8S1398E;D8S1578;HSC15E112;RH91788 MGC33510 OTTHUMP00000211258;OTTHUMP00000226956;OTTHUMP00000226957;OTTHUMP00000228340;hypothetical protein LOC254778;uncharacterized protein C8orf46 protein-coding ENSG00000169085 28498 14565 VALIDATED 1602379 C8orf61 chromosome 8 open reading frame 61 8 p23.3 1720281 1722142 + 14702039 619435 Q8N8I7 AC100810;AK096736;NM_001034061 BAC04854;NP_001029233;Q8N8I7 Hs.591392 FLJ39417 protein-coding 32277 1604869 C8orf49 chromosome 8 open reading frame 49 8 8 p23.1 11656174 11657024 + 11618765 11620309 + 14702039;12477932;22500510 606553 E9PQH1;Q96NF6 ABBA01026877;AC069185;AK055534;AMYH01018482;BC132945;BC136882;CH471157;NR_103552;XR_110589;XR_113107;XR_171708 AAI32946;AAI36883;EAW65622;Q96NF6 Hs.545529 1681275;1754435;2169795;2172970;5022322 D11S2560;RH11694;RH91374;SHGC-132501;SHGC-33472 FLJ30972 miscrna ENSG00000255394 32200 PREDICTED 1345698 C8orf8 chromosome 8 open reading frame 8 p23-p22 11896452 83647 Q96KT2 AJ301561 CAC82737;Q96KT2 Hs.404138 protein-coding 15544 1604140 C8orf59 chromosome 8 open reading frame 59 8 8 8 q21.2 82131333 82137694 - 86313540 86319895 - 86126288 86132643 - 6480464 16344560;16341674;15146197;12477932;11597177;21139048;21963094;23000965 401466 E5RGR5;E5RIV3;Q8N0T1 ABBA01004010;AC011773;AMYH01018835;BC032347;BC055092;BC062221;BC146983;BC146988;BC157825;BC171873;BG926519;BM785759;CH471068;CN280666;DB094478;NM_001099670;NM_001099671;NM_001099672;NM_001099673 AAH32347;AAI46984;AAI46989;AAI57826;EAW87124;EAW87125;EAW87126;EAW87127;NP_001093140;NP_001093141;NP_001093142;NP_001093143;Q8N0T1 Hs.443072 1776082;1797490;2116893;2125751;2180191 E2F5_2517;RH16329;RH46301;SGC35072;SHGC-35383 OTTHUMP00000227510;OTTHUMP00000227512;OTTHUMP00000227967;OTTHUMP00000227969;OTTHUMP00000227970;hypothetical protein LOC401466;uncharacterized protein C8orf59 protein-coding ENSG00000176731 32235 VALIDATED 1604880 C8orf58 chromosome 8 open reading frame 58 8 8 8 p21 21418974 21423515 + 22513067 22517608 + 22457114 22461663 + 6480464 14702039;12477932;17207965;16751776;18029348 541565 E5RJ64;H0YAZ5;Q8NAV2 ABBA01005525;AC037459;AI380311;AK092034;AK295405;AMYH01018567;BC012750;BI910955;DC328974;DQ593874;NM_001013842;NM_001198827;NM_173686 AAH12750;ADQ32183;BAC03795;BAG58356;NP_001013864;NP_001185756;NP_775957;Q8NAV2 Hs.743508 1688110;1698432;1699706 RH102761;RH103458;RH79699 FLJ34715 OTTHUMP00000205210;OTTHUMP00000205211;hypothetical protein LOC541565;uncharacterized protein C8orf58 protein-coding ENSG00000241852 32233 18675 VALIDATED 1343550 C9orf101 chromosome 9 open reading frame 101 445578 31361 5688531 C8orf87 chromosome 8 open reading frame 87 8 q22.1 94146324 94179079 - 20889312;12477932 389676 E5RJ46;H0YBK8 ABBA01037432;ABBA01037433;AC016885;AC022825;AMYH01018881;BC089453;NM_001242668 E5RJ46;NP_001229597 Hs.386711 1340639;1711930 D8S1818;G49576 uncharacterized protein C8orf87;uncharacterized protein LOC389676 protein-coding ENSG00000254318 42974 VALIDATED 1606363 C8orf82 chromosome 8 open reading frame 82 8 8 8 q24 141927283 141930130 - 145722411 145725266 - 145751603 145754458 - 12477932 414919 H0YEK9;H0YF29;J3KNI2;Q6P1X6 ABBA01005200;AC084125;AMYH01019157;AMYH01019158;BC064373;BC064829;BC073936;CH471162;NM_001001795 AAH64373;AAH64829;AAH73936;EAW82063;EAW82064;NP_001001795;Q6P1X6 Hs.105685 1648009 RH11522 MGC70857 OTTHUMP00000228796;OTTHUMP00000228798;UPF0598 protein C8orf82;hypothetical protein LOC414919 protein-coding 33826 17567 PREDICTED 1602035 C8orf86 chromosome 8 open reading frame 86 8 8 8 p11.22 37321247 37339347 - 38487509 38505337 - 38368352 38386180 - 12477932 389649 Q6ZUL3 ABBA01023530;ABBA01023531;AC069120;AC087623;AK125570;AMYH01018653;BC137511;BC137512;BC139744;NM_207412 AAI37512;AAI37513;AAI39745;BAC86207;NP_997295;Q6ZUL3 Hs.546586 FLJ43582 OTTHUMP00000225520;hypothetical protein LOC389649;uncharacterized protein C8orf86 protein-coding ENSG00000196166 33774 13474 PREDICTED 1606427 C8orf74 chromosome 8 open reading frame 74 8 8 8 p23.1 9658009 9685862 + 10567557 10595513 + 10530147 10558103 + 6480464 15489334;12477932 203076 E5RJ53;H0YBH0;Q6P047 ABBA01026889;AC105001;AK131443;AMYH01018477;BC038534;BC065837;BC132852;BC132854;CH471157;HC006850;NM_001040032 AAH65837;AAI32853;AAI32855;ADR82897;CBH19230;EAW65593;NP_001035121;Q6P047 Hs.371776 1338216;1697090;7184055 D8S520;RH102027 OTTHUMP00000224980;hypothetical protein LOC203076;uncharacterized protein C8orf74 protein-coding ENSG00000171060 32296 VALIDATED 1348246 C9orf118 chromosome 9 open reading frame 118 q22.32 15164053 414312 A6NHY6;B1AM58 AL161728 A6NHY6;CAH72691 bA342C23.1 Putative uncharacterized protein C9orf118;chromosome 9 open reading frame 118 protein-coding 25943 1349151 C9orf120 chromosome 9 open reading frame 120 414322 31413 1602854 C8orf76 chromosome 8 open reading frame 76 8 8 8 q24.13 120421270 120442656 - 124301412 124322798 - 124232196 124253638 - 6480464 15489334;14702039;12477932;8125298;20379614;19416867;21906983 84933 Q96K31 ABBA01037869;ABBA01037870;AC068228;AK027731;AK222660;AMYH01019003;BC067796;CH471060;DR156993;GD144749;NM_032847 AAH67796;ACT64409;ACT64410;BAB55327;BAD96380;EAW92026;NP_116236;Q96K31 Hs.707401 1679143;1689145;1847469;2123583;2167102 RH48703;RH80528;RH93745;STS-AA032013;STS-N32331 FLJ14825;MGC9784 OTTHUMP00000228384;hypothetical protein LOC84933;uncharacterized protein C8orf76 protein-coding ENSG00000189376 25924 08605 VALIDATED 1343592 C9orf114 chromosome 9 open reading frame 114 9 9 9 q34.11 102235130 102242872 - 130624166 130631906 - 131581930 131592100 - 737633;6480464 12477932 15489334;15164053;11790298;11042152;17207965;22990118;20813266;21900206;21906983 51490 Q5T280;R4GNG4 ABBA01043904;AF161459;AK303563;AL110193;AL441992;AMYH01021752;BC010579;BC021273;BC033677;BC039590;BC046133;BC056890;BC063644;BM997763;CH471090;NM_016390 AAF29074;AAH10579;AAH21273;AAH33677;AAH39590;AAH46133;AAH63644;ADQ32533;BAG64586;EAW87838;EAW87839;NP_057474;Q5T280 Hs.744105 2108057;2125011 ENDOG_7788;RH78082 CENP-32;DKFZp566D143;HSPC109;MGC29492;RP11-545E17.7 OTTHUMP00000022300;centromere protein 32;hypothetical protein LOC51490;uncharacterized protein C9orf114 protein-coding ENSG00000198917 26933 12935 VALIDATED 1353369 C9orf116 chromosome 9 open reading frame 116 9 9 9 q34.3 108904156 108908891 - 137526847 137531582 - 138387026 138391761 - 737633;6480464 12477932 15489334;15164053;14702039 138162 H0Y549;Q5BN46 ABBA01030037;AI367252;AI873313;AK024007;AL161452;AMYH01021839;AY927868;BC021261;CH471090;DR003074;NM_001048265;NM_144654 AAH21261;AAX22217;ABM83710;ABM87030;EAW88154;EAW88155;NP_001041730;NP_653255;Q5BN46 Hs.414028 1696930 RH101935 FLJ13945;MGC29761;PIERCE1;RP11-426A6.4;RbEST47 OTTHUMP00000022533;OTTHUMP00000022534;OTTHUMP00000022536;UPF0691 protein C9orf116;hypothetical protein LOC138162;p53-induced expression 1 in Rb−/− cells;p53-induced expression in RB-null cells protein 1;pierce 1 protein-coding ENSG00000160345 28435 12937 614502 VALIDATED 1350389 C9orf129 chromosome 9 open reading frame 129 9 9 9 q22.31 66522701 66550923 - 95120302 95148517 - 96080481 96108696 - 20379614 445577 Q5T035 ABBA01018607;AL583839;AMYH01021513;NM_001098808 NP_001092278;Q5T035 Hs.575636 1768531;2116753;2169832 IB543;RH66306;WI-15809 bA165J3.3 OTTHUMP00000021675;putative uncharacterized protein C9orf129 protein-coding ENSG00000204352 31116 PREDICTED 1319327 C9orf123 chromosome 9 open reading frame 123 9 9 9 p24.1 7726922 7730231 - 7786490 7789799 - 7796490 7799799 - 737633;6480464 12477932 19240061;15489334;15164053;21832049;22219177 90871 Q96GE9 ABBA01065371;AK292632;AL137489;AL354694;AMYH01019215;BC009510;BI550091;CH471071;NM_033428 AAH09510;ADZ15990;BAF85321;CAB70768;EAW58728;NP_219500;Q96GE9 Hs.7517 1678695;1679952;1687153;2143217 RH12800;RH39444;RH65064;WIAF-2166 MGC4730 OTTHUMP00000021055;transmembrane protein C9orf123 protein-coding ENSG00000137038 30536 12939 PROVISIONAL 1343575 C9orf117 chromosome 9 open reading frame 117 9 9 9 q34.11 101120163 101127195 + 129509092 129516124 + 130469271 130476303 + 14702039;12477932;21145461 286207 A2RUS6;Q5JU67 ABBA01043840;AK094948;AK126437;AL162426;AL833241;AMYH01021732;BC125172;BC133027;BC141809;CH471090;NM_001012502 AAI33028;AAI41810;EAW87682;EAW87683;EAW87684;NP_001012520;Q5JU67 Hs.652519 1677476;2179981 RH92521;SGC30286 RP11-56D16.5 OTTHUMP00000022194;hypothetical protein LOC286207;uncharacterized protein C9orf117 protein-coding ENSG00000160401 27843 16673 PREDICTED 1641964 C9orf141 chromosome 9 open reading frame 141 9 q34.3 138983516 138986263 + 203235 Q5SQ13 AL807752;NM_001101674;XM_117514 CAI12755;NP_001095144;Q5SQ13;XP_117514 protein-coding 18147 1349578 C9orf106 chromosome 9 open reading frame 106 9 9 9 q34.11 102734238 102735825 + 131123116 131124703 + 132083295 132084882 + 14702039;12477932;21139048 414318 Q8NAJ2 ABBA01043923;AK092588;AL161785;AMYH01021758;BC132699;BC132701;CH471090;NM_001012715 AAI32700;AAI32702;BAC03921;EAW87887;NP_001012733;Q8NAJ2 Hs.449434 1786974;1823784;1827270;1828498;1829502;1831194;1832440;1833834;1835662;1929304;1929306;1929308;1929310;1929312;1929314;1929316;1929318;1929320;1929322;1929324;1929326;1929328;1929330;1929332;1929334;1929336;1929338;1929340;1929342;1929344;1929346;1929348;1929350;1929352;2208570;2208572;2208574;2208576;2208578;5037552 D8S2279;ECD12984;ECD14750;ECD15376;ECD15882;ECD16733;ECD17359;ECD18063;ECD18988;REN35481;REN35482;REN35483;REN35484;REN35485;REN35486;REN35487;REN35488;REN35489;REN35490;REN35491;REN35492;REN35493;REN35494;REN35495;REN35496;REN35497;REN35498;REN35499;REN35500;REN35501;REN35502;REN35503;REN35504;REN35505;SHGC-145676;stSG628365;stSG628366;stSG628367;stSG628368;stSG628369 bA65J3.5 putative uncharacterized protein C9orf106 protein-coding 31370 10207 VALIDATED 1626519 C9orf147 chromosome 9 open reading frame 147 q32 100113405 H0Y7W3 AK131020 Hs.662552 bA32M23.3 protein-coding 31438 1320687 C9 complement component 9 This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009] 5 5 p14-p12 39320758 39400412 - 39284377 39364655 - 1580863;6480464;6907045;7240710 2426252;19344414;18842294;17644516;17482181;16844690;16618117;16335952;16263699;15489334;14760718;12596049;12477932;12463754;11881818;11359403;11027207;10551839;9703418;9634479;9570574;9144525;8603752;8471847;8345200;7523406;6095282;4063341;4018030;3624872;3219351;2744767;2395434;1672663;1377690;8630395;21057849;20383146;21507937;19162005;19423540;19739077;19864026;20139276;20153530;20237496;20406964;20438785;16712791;19913121;20628086;21380615;21840429;22528500;22190594;18029348;23487461 735 P02748;Q9UGI4 ABBA01024210;AC008846;AC025471;AJ251818;AK308045;AMYH01015043;BC020721;CB135741;CB157001;CH471119;J02833;K02766;NG_009894;NM_001737;X02176;Y08545 AAA51889;AAA51890;AAH20721;ABM82336;CAA26117;CAA69849;CAB66087;EAW55986;EAW55987;EAW55988;NP_001728;P02748 Hs.654443 1653135;1705146;1768376;1776755;2140543;2176333 D5S2371;RH11647;SGC33368;SHGC-80007;STS-K02766;WI-12573 OTTHUMP00000119994;complement component C9 APPROVED protein-coding ENSG00000113600 1358 00408 120940;613825 REVIEWED 1318524 C9orf151 chromosome 9 open reading frame 151 q34.3 401560 AA916420;BI827090 Hs.528581 bA413M3.2 protein-coding 31453 7246739 C9orf135-AS1 C9orf135 antisense RNA 1 (head to head) 12477932 494558 ABBA01033816;AL162412;AMYH01021393;BC039385;BG717523;BI830190;NR_038833 Hs.130722 1729588 D9S110 miscrna 48713 VALIDATED 1605872 C9orf135 chromosome 9 open reading frame 135 9 9 9 q21.12 43026105 43111542 + 71625551 71710968 + 72435731 72521148 + 16335952;15164053;12477932;20379614;20818722 138255 A7E2U4;E9PIA3;H0YD79;H0YDM9;Q5VTT2 AA416734;ABBA01033816;ABBA01033817;ABBA01033818;ABBA01033819;AL162412;AL591215;AL603625;AMYH01021393;AMYH01021394;BC136709;BC144373;BC144374;BC144375;BC150564;CD684431;CH471089;NM_001010940 AAI36710;AAI50565;EAW62492;NP_001010940;Q5VTT2 Hs.444459 1704720;1729588 D9S110;SHGC-79021 OTTHUMP00000021439;OTTHUMP00000232342;OTTHUMP00000232346;hypothetical protein LOC138255;uncharacterized protein C9orf135 protein-coding ENSG00000204711 31422 17298 VALIDATED 1344533 C9orf148 chromosome 9 open reading frame 148 q33.2 12477932 401550 BC039180 Hs.644347 protein-coding 24214 1352712 C9orf155 chromosome 9 open reading frame 155 497260 AL161447;NM_001099268 CAH73151;NP_001092738 FLJ23608;bA379P1.3 protein-coding 29844 1604527 C9orf131 chromosome 9 open reading frame 131 9 9 9 p13.3 34973075 34977961 + 35031102 35035988 + 35041102 35045988 + 6480464 16344560;14702039;12477932 138724 F5H224;F5H4E3;F8W7H5;Q5VYM1 ABBA01064998;AK090398;AK097595;AK302123;AL133575;AL353795;AMYH01019341;BC045643;DB072610;DB091135;DB093341;DB096349;NM_001040410;NM_001040411;NM_001040412;NM_203299 AAH45643;BAC03379;BAG63501;CAB63722;NP_001035500;NP_001035501;NP_001035502;NP_976044;Q5VYM1 Hs.148250;Hs.742567 2128862;5014267;5015861;5022200;5022576;5022651;5037552;7185938 D10S16;D11S2921;D1S1361;D8S2279;G29284;L18426;REN93612 FLJ00273;MGC41945 OTTHUMP00000021323;OTTHUMP00000239652;OTTHUMP00000239653;OTTHUMP00000239674;hypothetical protein LOC138724;uncharacterized protein C9orf131 protein-coding ENSG00000174038 31418 14616 VALIDATED 1603806 C9orf139 chromosome 9 open reading frame 139 9 9 q34.3 139041737 139051055 + 139921916 139931234 + 14702039;12477932 401563 Q6ZV77 ABBA01022736;ABBA01022737;ABBA01022738;AK093587;AK124899;AL807752;AMYH01021885;AMYH01021886;AMYH01021887;BC132809;BC136839;CH471090;NM_207511 AAI32810;AAI36840;ADR83488;BAC04202;BAC85986;EAW88334;NP_997394;Q6ZV77 Hs.522509 1792768;1795874;2163150 FUT7_665;PMC16366P1;STS-X78031 FLJ36268;FLJ42909 OTTHUMP00000022650;hypothetical protein LOC401563;uncharacterized protein C9orf139 protein-coding ENSG00000180539 31426 16942 PREDICTED 1606404 C9orf142 chromosome 9 open reading frame 142 9 9 9 q34.3 110399180 110400738 + 139006691 139008249 + 139886870 139888428 + 6480464 12477932;17207965;21832049;21139048 286257 Q9BUH6 ABBA01022734;AL807752;AMYH01021882;BC002613;BC038191;CH471090;NM_183241 AAH02613;AAH38191;ADQ32091;EAW88324;EAW88325;EAW88326;EAW88327;EAW88328;NP_899064;Q9BUH6 Hs.409582 1669143;5123576 STS-T23618;WI-19910 OTTHUMP00000022672;hypothetical protein LOC286257;uncharacterized protein C9orf142 protein-coding ENSG00000148362 27849 14163 PREDICTED 1602164 C9orf164 chromosome 9 open reading frame 164 9 q22.2 91166336 91169386 - 15164053;14702039 349236 AJ420442;AK090804;AK091601;AK097056;AK128342;AL929575;BC137515;BC137518;NM_182635 AAI37516;AAI37519;BAC04938;CAI95794;NP_872441;Q8N8B0 Hs.714762 FLJ39737 protein-coding 28023 14184 1602292 C9orf163 chromosome 9 open reading frame 163 9 9 9 q34.3 109892404 109894976 + 138497768 138500340 + 139377947 139380519 + 17353931;14702039;12477932 158055 Q8N9P6;Q96NJ1 ABBA01022709;AK055336;AK094098;AL592301;AMYH01021864;BC036221;BC117152;BC117154;CH471090;NM_152571 AAI17153;AAI17155;ADR82842;BAB70904;BAC04285;EAW88240;NP_689784;Q8N9P6 Hs.212613 5493399 UniSTS:485993 FLJ36779;RP11-413M3.11 OTTHUMP00000162518;hypothetical protein LOC158055;uncharacterized protein C9orf163 protein-coding ENSG00000196366 26718 08211 VALIDATED 1342470 C9orf152 chromosome 9 open reading frame 152 9 9 9 q31.3 83463470 83472042 - 112001662 112009735 - 112961841 112970413 - 6480464 15851553;15489334;15164053;12477932 401546 A8K2L3;Q5JTZ5 ABBA01042750;AK290278;AL353598;AMYH01021626;BC110807;BX648492;BX648620;CD722791;CH471105;NM_001012993 AAI10808;ABZ92215;ACE86941;ACE87629;BAF82967;EAW59058;NP_001013011;Q5JTZ5 Hs.125608 1697256 RH102122 MGC131682;bA470J20.2 OTTHUMP00000021886;hypothetical protein LOC401546;uncharacterized protein C9orf152 protein-coding ENSG00000188959 31455 10249 VALIDATED 1604152 C9orf153 chromosome 9 open reading frame 153 9 9 9 q21.33 59412336 59444629 - 88032046 88064339 - 88842226 88874519 - 15489334;15164053;12477932 389766 Q5TBE3 ABBA01016308;AL137849;AMYH01021474;BC108665;BG772848;BI827110;CH471089;HC006858;NM_001010907;NM_001276366;NM_001276367;NM_001276368 AAI08666;CBH19234;EAW62710;EAW62711;NP_001010907;NP_001263295;NP_001263296;NP_001263297;Q5TBE3 Hs.632073 MGC131702;bA507D14.1 OTTHUMP00000021589;hypothetical protein LOC389766;uncharacterized protein C9orf153 protein-coding ENSG00000187753 31456 16677 VALIDATED 1603334 C9orf169 chromosome 9 open reading frame 169 9 9 9 q34.3 110634766 110635885 + 140119644 140120763 + 140119644 140120763 + 6480464 12477932;22939629;21078624 375791 A8MQ03;B8A4K4 ABBA01022750;AMYH01021895;BC018787;BC052297;BE563091;BX255925;BX322591;NM_199001 A8MQ03;AAH52297;NP_945352 Hs.495540;Hs.512469 MGC59937 UPF0574 protein C9orf169;hypothetical protein LOC375791 protein-coding ENSG00000197191 30529 14696 VALIDATED 1313441 C9orf156 chromosome 9 open reading frame 156 9 9 9 q22.33 71181022 71199104 - 99706593 99724673 - 100666772 100684852 - 6480464 18654987;14702039;12477932;11042152;9153233;20583170;19779022;21963094;22493691;22318606 51531 Q5T111;Q5T112;Q5T114;Q9BU70 ABBA01042926;AF151053;AK000213;AK023069;AK302701;AK309270;AL499604;AMYH01021558;AY189280;BC002863;CH471105;NM_016481;X86033 AAF36139;AAH02863;AAO86724;ABM83909;ABM87230;BAA91013;BAH13783;CAA60025;EAW58858;EAW58859;EAW58860;NP_057565;Q9BU70 Hs.9196 2148084 D9S1711 HSPC219;NAP1;RP11-23B15.3 Nef (lentivirus myristoylated factor) associated protein 1;Nef associated protein 1;OTTHUMP00000022729;nef-associated protein 1;thioesterase NAP1 protein-coding ENSG00000136932 30967 12945 VALIDATED 3302853 C9orf172 chromosome 9 open reading frame 172 9 9 9 q34.3 110252657 110255587 + 138858688 138861618 + 139738867 139741797 + 389813 C9J069 ABBA01022724;ABBA01022725;AL355987;AMYH01021875;AMYH01021876;AMYH01021877;AMYH01021878;NM_001080482 C9J069;NP_001073951 Hs.495485 chromosome 9 open reading frame 172;uncharacterized protein C9orf172 protein-coding ENSG00000232434 37284 INFERRED 1347051 C9orf33 chromosome 9 open reading frame 33 q22.1 90477 O75562;Q5JUI2 AF072164;AL160054 AAC24864;CAI41367;O75562;Q5JUI2 Hs.667154 HFSE-1 protein-coding 23374 1353607 C9orf35 chromosome 9 open reading frame 35 p21.2 414160 AL163192 chromosome 9 open reading frame 35 protein-coding 23388 1604151 C9orf171 chromosome 9 open reading frame 171 9 9 9 q34.13 105827436 105990419 + 134275432 134438496 + 135285611 135448675 + 6480464 12477932;19913121;20628086;20379614;23251661 389799 A2A393;Q6ZQR2 ABBA01032484;ABBA01032485;ABBA01032486;ABBA01032487;AK128819;AL353701;AL354735;AMYH01021787;AMYH01021788;AMYH01021789;AMYH01021790;AMYH01021791;AMYH01021792;BC118593;BC124555;CH471090;NM_207417 AAI18594;AAI24556;BAC87621;EAW88003;EAW88004;NP_997300;Q6ZQR2 Hs.201709 1337349;1738303;1740535;5020611 D9S1275;D9S149;D9S1847;UniSTS:224561 FLJ46082;MGC148067;RP11-738I14.8 OTTHUMP00000162463;OTTHUMP00000213246;hypothetical protein LOC389799;uncharacterized protein C9orf171 protein-coding ENSG00000188523 33776 13522 PREDICTED 1349397 C9orf36 chromosome 9 open reading frame 36 9 65243186 65249430 - 26165 Q5TZJ5;Q8IWB4 BC040528;NM_015667 23394 1352754 C9orf38 chromosome 9 open reading frame 38 9 p24.1 6457602 6460369 - 29044 Q9UI66 AF090921;AL353718;XM_927012;XM_939946 AAF24038;CAH74115;Q9UI66;XP_932105;XP_945039 Hs.676462 5022578;5022651;5037552 D11S2921;D1S1423;D8S2279 PRO0365 protein-coding 23398 1603810 C9orf170 chromosome 9 open reading frame 170 9 9 9 q21.33 60335217 60346294 + 88953379 88964461 + 89763559 89774641 + 15489334;14702039;12477932 401535 A2RU37 ABBA01016317;ABBA01016318;AK127445;AL158205;AMYH01021477;BC132741;BC136791;NM_001001709 A2RU37;AAI32742;AAI36792;ADR82813;NP_001001709 Hs.657740 1770107 WI-17567 FLJ45537 OTTHUMP00000215881;hypothetical protein LOC401535;uncharacterized protein C9orf170 protein-coding ENSG00000204446 33817 16988 VALIDATED 1342591 C9orf16 chromosome 9 open reading frame 16 9 9 9 q34.1 101573422 101577094 + 129962360 129966028 + 130922539 130926207 + 6480464 16964243;16189514;15489334;15146197;14702039;12477932;10369878 79095 Q9BUW7;Q9Y3F6 ABBA01043870;AK022885;AK315753;AL590708;AMYH01021743;BC001857;BC008887;CH471090;CN360246;DB493059;NM_024112;Y17449;Y17450 AAH01857;AAH08887;BAG38107;CAB44344;CAB44366;EAW87751;NP_077017;Q9BUW7 Hs.522412 1664190;1730199;5022200 D9S1673E;L18426;RH48361 EST00098;FLJ12823;MGC4639 OTTHUMP00000022233;UPF0184 protein C9orf16;hypothetical protein LOC79095 protein-coding ENSG00000171159 17823 12946 VALIDATED 1604889 C9orf173 chromosome 9 open reading frame 173 9 9 9 q34.3 110661314 110663520 + 139265551 139267755 + 140145713 140147935 + 14702039;12477932 441476 B7ZM74;Q8N7X2 ABBA01022752;AK097565;AMYH01021896;BC033939;BC050094;BC132726;BC144308;BC144310;BC144311;BC144314;BX255925;CH471090;DB453255;NM_001004353;NM_001256699;NM_001256700;NM_001256701;NR_046339;NR_046340 AAH33939;AAI32727;AAI44309;AAI44312;AAI44315;ADR82979;BAC05104;EAW88374;EAW88375;EAW88376;NP_001004353;NP_001243628;NP_001243629;NP_001243630;Q8N7X2 Hs.372640 1681829;1687077 RH69719;RH94267 FLJ40246 hypothetical protein LOC441476;uncharacterized protein C9orf173 APPROVED protein-coding ENSG00000197768 37285 17408 VALIDATED 1320010 C9orf3 chromosome 9 open reading frame 3 This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 9 9 9 q22.32 67929905 68290531 + 96528815 96889262 + 97488951 97849500 + 737633;6480464 12477932 15687497;15489334;15164053;14702039;22885925;20379614;15342556;16344560;20932654;22544366;22632968;23251661 84909 B4DKT1;B4DQU3;B4DU39;H0Y7A8;H0Y7M4;H0YCM2;Q8N6M6 ABBA01043625;ABBA01043626;ABBA01043627;ABBA01043628;ABBA01043629;ABBA01043630;ABBA01043631;ABBA01043632;AF043896;AF043897;AI982632;AJ560639;AK027581;AK057450;AK098242;AK296699;AK296782;AK298959;AK300486;AL157936;AL353768;AL354893;AL807757;AMYH01021531;AMYH01021532;BC020194;BC029616;BP274281;BQ448239;BX099259;BX648970;CH471174;DA222106;DA521148;NG_027833;NM_001193329;NM_001193331;NM_032823 AAH20194;AAH29616;BAB55210;BAB71491;BAG59293;BAG59360;BAG61055;BAG62201;CAD90259;EAW92618;EAW92619;EAW92620;EAW92621;EAW92622;EAW92623;NP_001180258;NP_001180260;NP_116212;Q8N6M6 Hs.434253 1643729;1652635;1664228;1666640;1666642;1667359;1668770;1676738;1680343;1680541;1707870;1708772;1715913;1719135;1755639;1773170;1774871;1779130;1780234;1849228;1850109;1850111;2128733;2129198;2135688;2140064;2154784;2165411;2165413;2167363 A006I15;D9S792;G09308;G20840;G29150;RH122691;RH123285;RH16396;RH18210;RH35946;RH41810;RH44616;RH45578;RH47885;RH47933;RH80162;RH80732;SGC35135;SHGC-142492;SHGC-154697;SHGC-32587;SHGC-33390;SHGC-33990;SHGC-35212;SHGC-81622;SHGC-82173;STS-N52510;STS-T91788;U57798;U57803 AOPEP;AP-O;APO;C90RF3;FLJ14675;FLJ40923;FLJ55832;ONPEP OTTHUMP00000021698;OTTHUMP00000021700;OTTHUMP00000021701;OTTHUMP00000021702;aminopeptidase O APPROVED protein-coding ENSG00000148120 1361 07476 REVIEWED 1343340 C9orf37 chromosome 9 open reading frame 37 While this gene appears to be transcribed and translated to make a protein, no function has been assigned to the protein. [provided by RefSeq, Apr 2009] 9 9 9 q34.3 111033445 111036970 - 139629610 139633070 - 140509784 140513308 - 15164053;12477932;10931946 85026 Q9H2J1 ABBA01022779;AF267857;AL365502;AMYH01021914;AW015916;BC011781;BC066646;BC117267;CH471090;DB727790;NG_011776;NM_032937 AAG44726;AAH66646;AAI17268;ADR82841;EAW88407;EAW88408;NP_116326;Q9H2J1 Hs.522520 1670730;1779167;2128682 STS-H18962;STS-N91817;STS-R41874 AD038;OTTHUMP00000022697;chromosome 9 open reading frame 37;uncharacterized protein C9orf37 APPROVED protein-coding ENSG00000203993 23395 12955 REVIEWED 1323541 C9orf41 chromosome 9 open reading frame 41 9 9 9 q21.13 48175365 48220811 - 76787693 76833130 - 77597873 77643310 - 737633;6480464 12477932 15489334;15164053;14702039;17207965;21832049;21890473 138199 B4DSD4;Q5T8U9;Q5T8V1;Q8N4J0 ABBA01033890;ABBA01033891;AK098661;AK299691;AL158825;AMYH01021416;BC034033;BX538061;BX647386;CH471089;NM_152420 AAH34033;ACE87004;ACE87692;ADQ32135;BAC05369;BAG61596;CAD97992;EAW62565;EAW62566;EAW62567;NP_689633;Q8N4J0 Hs.567688 2013194;2013200;2013204;2098622 REN77532;REN77535;REN77537;stSG602705 FLJ25795 OTTHUMP00000021491;UPF0586 protein C9orf41;hypothetical protein LOC138199 protein-coding 23435 12958 PREDICTED 2290029 C9orf51 chromosome 9 open reading frame 51 9 p13.1 38517094 38517909 + 647044 B1ANY3 AL390726;XM_001713954;XM_930041;XM_940136 Q5VWG5;XP_001714006;XP_935134;XP_945229 bA392E22.4 protein-coding 23678 1317081 C9orf48 chromosome 9 open reading frame 48 9 p13.3 34242378 34319198 - 737633;6480464 12477932 347240 Q5T7B8 AK125180;AK125872;AL353662;BC048311;BC110502;BC110503;CH471071;NM_194313 AAH48311;AAI10503;AAI10504;BAC86074;BAC86329;CAI15919;EAW58466;NP_919289;Q5T7B8 Hs.661678 FLJ43884;MGC125677;MGC125678 protein-coding 23670 12963 613747 1350435 C9orf56 chromosome 9 open reading frame 56 414154 20950 1322222 C9orf24 chromosome 9 open reading frame 24 This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 9 9 9 p13.3 34310522 34329350 - 34369017 34387849 - 34379017 34397849 - 6480464 19213785;15862967;15242845;14702039;12477932;12029067;8125298;17207965;8401585;8889548 84688 H0Y454;Q5T5A1;Q8NCR6 AA338648;ABBA01065012;AF367474;AK058087;AK094751;AK225981;AL356494;AMYH01019336;AW961020;BC022084;BC029484;BI561111;CB854584;CH471071;NM_001252195;NM_032596;NM_147168;NM_147169 AAH22084;AAH29484;AAK53410;ADQ31579;BAB71657;BAC04412;EAW58456;EAW58457;EAW58458;EAW58459;NP_001239124;NP_115985;NP_671697;NP_671698;Q8NCR6 Hs.50334 1686512;2141726;2151144 D9S1929;RH12896;RH66380 CBE1;MGC32921;MGC33614;NYD-SP22;SMRP1;bA573M23.4 OTTHUMP00000000492;OTTHUMP00000000493;OTTHUMP00000000494;OTTHUMP00000000495;OTTHUMP00000000498;ciliated bronchial epithelial protein 1;ciliated bronchial epithelium 1;spermatid-specific manchette-related protein 1;testes development-related NYD-SP22;testis development protein NYD-SP22;uncharacterized protein C9orf24 APPROVED protein-coding ENSG00000164972 19919 12949 REVIEWED 1343208 C9orf62 chromosome 9 open reading frame 62 9 9 q34.3 137375066 137376074 + 138235095 138238408 + 737633;6480464 12477932 157927 Q8N4C0 ABBA01030031;AL353615;AMYH01021836;BC034752;NM_173520 AAH34752;NP_775791;Q8N4C0 Hs.559511 5094220 G54620 MGC35463;RP11-555H7.1 putative uncharacterized protein C9orf62 protein-coding ENSG00000178243 28581 VALIDATED 1345519 C9orf43 chromosome 9 open reading frame 43 9 9 9 q32 86820622 86839482 + 115212843 115231703 + 116173022 116191882 + 737633 12477932 15489334;15164053;20583170;16344560;21832049 257169 Q8TAL5 ABBA01042684;AK301872;AK313867;AL137066;AMYH01021669;BC026884;BC033037;CH471090;DB048582;DB057586;NM_001278629;NM_001278630;NM_152786 AAH26884;AAH33037;BAG36595;BAG63309;EAW87383;EAW87384;EAW87385;EAW87386;NP_001265558;NP_001265559;NP_689999;Q8TAL5 Hs.632691 1788640 RH18148 MGC17358 OTTHUMP00000021960;OTTHUMP00000021961;hypothetical protein LOC257169;uncharacterized protein C9orf43 protein-coding ENSG00000157653 23570 12959 VALIDATED 1347500 C9orf53 chromosome 9 open reading frame 53 9 9 9 p21.3 21905490 21906105 + 21957199 21957752 + 21967138 21967753 + 6480464 19664850;17081983;15164053;21048031;21385355;21406102 51198 Q9UH64 ABBA01065171;ABBA01065172;AF211119;AL449423;AMYH01019276;BX091351;NG_007485;NR_024274 AAF22974;Q9UH64 Hs.721053 2120982;2121132;2167157 D9S2060;RH67869;STS-S69824 bA149I2.3 miscrna ENSG00000224854 23831 VALIDATED 1342941 C9orf57 chromosome 9 open reading frame 57 9 9 9 q21.13 45239014 45248238 - 73856113 73877565 - 74666297 74675521 - 737633 12477932 15489334;15164053 138240 A1L456;Q5W0N0 ABBA01033851;AL138751;AL583829;AMYH01021404;BC036255;BC044620;BC053956;BC130404;BC144273;CH471089;NM_001128618 AAI30405;AAI44274;EAW62527;NP_001122090;Q5W0N0 Hs.371235 1683918 RH92915 RP11-346E17.3 OTTHUMP00000021462;hypothetical protein LOC138240;uncharacterized protein C9orf57 protein-coding ENSG00000204669 27037 VALIDATED 1606405 C9orf47 chromosome 9 open reading frame 47 9 9 9 q22.1 62188427 62193706 + 90795663 90800875 + 91605778 91611057 + 6480464 15164053;14702039;12477932;22331829 286223 Q5SQD6;Q6ZRZ4 ABBA01004617;AK094842;AK127854;AK130650;AL831887;AMYH01021494;AY333281;BC136895;BC144432;CK905850;NM_001001938;NM_001142413 AAI36896;AAI44433;AAP93864;BAC04433;BAC87162;NP_001001938;NP_001135885;Q6ZRZ4 Hs.585118 C9orf108;FLJ37523;bA791O21.3 OTTHUMP00000021610;OTTHUMP00000215692;hypothetical protein LOC286223;uncharacterized protein C9orf47 protein-coding ENSG00000186354 23669 12962 VALIDATED 1350600 C9orf40 chromosome 9 open reading frame 40 9 9 9 q21.13 48135332 48141635 - 76751319 76757622 - 77561499 77567802 - 6480464 17081983;15489334;15164053;14702039;12477932;8125298;21139048;21890473 55071 Q8IXQ3 ABBA01033888;AK000972;AK225349;AL158825;AMYH01021416;BC039588;BM126413;CH471089;NM_017998 AAH39588;BAA91449;EAW62564;NP_060468;Q8IXQ3 Hs.532296 1671572;2157825 SHGC-64302;WI-12436 FLJ10110;FLJ25795 OTTHUMP00000021490;hypothetical protein LOC55071;uncharacterized protein C9orf40 protein-coding ENSG00000135045 23433 12957 VALIDATED 1345654 C9orf73 chromosome 9 open reading frame 73 q22.31 14702039 286371 AK095132 Hs.711420 1339396;1713753;1773150 D9S1098;D9S1842;RH120763 protein-coding 27862 1606874 C9orf50 chromosome 9 open reading frame 50 9 9 9 q34.11 103025311 103033860 - 131414325 131422876 - 132374504 132383055 - 6480464 16344560;14702039;12477932;21382349;22041458 375759 Q5SZB4 ABBA01043938;ABBA01043939;AK093122;AL391056;AL590369;AMYH01021762;AW468767;AW958564;AW958565;BC112353;CH471090;DB024443;JF442034;NM_199350 AAI12354;AEO12129;EAW87891;EAW87892;NP_955382;Q5SZB4 Hs.124223 FLJ35803 OTTHUMP00000022341;hypothetical protein LOC375759;uncharacterized protein C9orf50 protein-coding ENSG00000179058 23677 14197 VALIDATED 1322751 C9orf64 chromosome 9 open reading frame 64 9 9 9 q21.32 57124248 57142674 - 85743046 85761483 - 86553226 86571663 - 737633;6480464 12477932 15489334;15164053;14702039;21139048;19322201;20881960;22505724 84267 Q5T6V5;Q5T6V6;Q5T6V7 ABBA01034011;ABBA01034012;AK090882;AL354733;AMYH01021461;AMYH01021462;BC004407;BC137461;BC137462;BX116423;CH471089;DB464056;NM_032307 AAI37462;AAI37463;BAC03538;EAW62672;EAW62673;EAW62674;NP_115683;Q5T6V5 Hs.208914 1786918;5037552 D8S2279;SHGC-112554 MGC10999;RP11-575L7.5 OTTHUMP00000021562;OTTHUMP00000021563;UPF0553 protein C9orf64;hypothetical protein LOC84267 protein-coding ENSG00000165118 28144 12969 611342 VALIDATED 1347775 C9orf66 chromosome 9 open reading frame 66 9 9 9 p24.3 127940 130725 - 203462 205741 - 213108 215893 - 6480464 15164053;14702039;12477932 157983 Q0VG94;Q5T8R8 ABBA01065460;AK055720;AL158832;AMYH01019173;BC111423;NG_017007;NM_152569 AAI11424;BAB70995;NP_689782;Q5T8R8 Hs.190877 5021872;5493463 UniSTS:486505;sY3084 FLJ31158;RP11-59O6.1 OTTHUMP00000022749;hypothetical protein LOC157983;uncharacterized protein C9orf66 protein-coding ENSG00000183784 26436 12971 VALIDATED 1349018 C9orf69 chromosome 9 open reading frame 69 9 9 9 q34.3 109524655 109528958 - 138146248 138150552 - 139006427 139010731 - 6480464 16344560;14702039;12477932;21667337 90120 H0YKC6;H0YL14;H3BQM9;H3BVA3 ABBA01030058;ABBA01030059;AK023162;AK091349;AL138781;AMYH01021858;BC009229;BC013282;BC014304;BC021231;BC064970;BC084549;BC092490;BC111053;DA685158;NM_001256526;NM_152833 H0YL14;NP_001243455;NP_690046 Hs.287411 2171721 STS-T50077 bA83N9.1 herpes virus UL25-binding protein;hypothetical protein LOC90120;protein C9orf69;uncharacterized protein LOC90120 protein-coding ENSG00000238227 31009 VALIDATED 1314456 C9orf89 chromosome 9 open reading frame 89 9 9 9 q22.31 66300177 66317285 + 94898271 94915386 + 95858450 95875565 + 737633;6480464 12477932 15637807;15489334;15164053;14702039 84270 Q96LW7 ABBA01018603;AK057716;AK091611;AK097977;AK128259;AL451065;AMYH01021512;AW207349;BC004500;BC038856;BC042201;BC091476;CH471089;NM_032310 AAH04500;AAH38856;BAB71550;EAW62850;EAW62851;EAW62852;EAW62853;EAW62854;EAW62855;NP_115686;Q96LW7 Hs.434213 1677564;1728761;1729575;1729898;5022200;5022578;5022651;7184633 D11S2921;D1S1423;D9S119;D9S12;G54480;L18426;RH65765 BinCARD;MGC110898;MGC11115;bA370F5.1 Bcl10-interacting protein with CARD;OTTHUMP00000021671;bcl10-interacting CARD protein protein-coding ENSG00000165233 28148 12985 VALIDATED 1349109 C9orf92 chromosome 9 open reading frame 92 9 9 9 p22.3 16131238 16203619 - 16193933 16266305 - 16193933 16266305 - 15164053;11329013 100129385 A6NGG3;H7C3I8 AI167486;AL513424;AW779702;BG207459;NM_001271829;NR_073471;XM_001723009;XM_001723011;XM_001725126;XM_001725127 A6NGG3;NP_001258758;XP_001723061;XP_001723063;XP_001725178;XP_001725179 Hs.586441 1340310;1691126;1729662;1778540;1778647;7186427 AFM051xd6;D8S209;D9S156;D9S1917;D9S908 Em:AL513424.1 chromosome 9 open reading frame 92;putative uncharacterized protein C9orf92 protein-coding 19054 VALIDATED 1312125 C9orf91 chromosome 9 open reading frame 91 9 9 9 q32 88021359 88056348 + 116413527 116448524 + 117373706 117408703 + 737633;6480464 12477932 16381901;16344560;15489336;14702039;11230166;11076863;9110174;8619474;19322201 203197 Q5VZI3 ABBA01042663;ABBA01042664;ABBA01042665;AF038174;AK095364;AK098022;AK289383;AL160275;AL557166;AL834412;AMYH01021674;AMYH01021675;BC010029;BC019913;BC062550;BC107133;BC107134;BI553818;BQ049157;BX649023;CH471090;DB199443;NM_153045 AAH19913;AAH62550;AAI07134;AAI07135;BAC04537;BAF82072;CAD39074;CAL37803;EAW87426;EAW87427;EAW87428;NP_694590;Q5VZI3 Hs.522357 1662970;1666304;1771976;1787058;2152588;5020948;5022200 CHLC.GGAT3C11;G35303;G35510;L18426;NIB917;RH11942;SHGC-154091 DKFZp547P234;FLJ38045;MGC129868;MGC129869;RP11-402G3.2 OTTHUMP00000021980;OTTHUMP00000021981;transmembrane protein C9orf91 protein-coding ENSG00000157693 24513 12988 VALIDATED 1602828 C9orf72 chromosome 9 open reading frame 72 Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 9 p21.2 27474665 27501967 - 27536544 27563842 - 27546543 27573864 - 6480464;7240710 22305801;22721568;22727276;22766072;22564974;22499346;22343411;22426854;15489334;15164053;14702039;12477932;22216764;19734901;20423481;20801718;22406228;23423380;22964910;22964911;23084342;21944778;22399792;22399793;11015796;12672552;16495328;20562461;20801717;21944779;22228244;22678362;22692064;23012445;23160421;23338682;22708871;22742426;22985429;23035801;23036583;23063644;23088937;19322201;22487746;21890473;22083254;22300873;22300876;22344582;22366791;22366792;22366793;22366794;22366795;22550220;20301623;22410647;22418734;22445326;22459598;22483864;22502998;21832049;22732773;23100398;22815561;23393093;22936364;23111906;23413259;22571983;23264878;22959728;22840558;23117491;22739338;22673113;22807188;22843265;22181065;22766732;22875086;22875087;23284068 203228 Q96LT7;Q9NUW0 ABBA01065127;AK001971;AK057806;AK291425;AL451123;AL832229;AL832467;AMYH01019297;BC020851;BC039112;BC068445;BG722125;CH471071;JN681271;NG_031977;NM_001256054;NM_018325;NM_145005 AAH68445;ADR82709;AET41697;BAA92009;BAB71583;BAF84114;EAW58558;EAW58559;EAW58560;EAW58561;NP_001242983;NP_060795;NP_659442;Q96LT7 Hs.493639 1298120;1298167;1337019;1681209;2141327;2175677 D9S1122;D9S301;D9S922;RH66179;SGC32711;SHGC-36542 ALSFTD;FTDALS;MGC23980;RP11-27J8.2 OTTHUMP00000021170;OTTHUMP00000021171;OTTHUMP00000021172;hypothetical protein LOC203228;protein C9orf72;uncharacterized protein C9orf72 APPROVED protein-coding ENSG00000147894 28337 12975 105550;614260 VALIDATED 1351188 C9orf84 chromosome 9 open reading frame 84 9 9 9 q31.3 84947957 85044839 - 113488722 113585600 - 114448901 114545779 - 6480464 16344560;15164053;14702039;12477932;18812090;21771883 158401 A6PVK7;Q5VXU9;Q6ZU10 ABBA01042725;ABBA01042726;AK057341;AK126055;AL135787;AL354877;AL356491;AL704322;AL833535;AMYH01021643;BC041858;BC112357;BC144680;CH471105;DB066382;NM_001080551;NM_173521 AAI12358;BAB71436;BAC86417;EAW59088;EAW59089;EAW59090;NP_001074020;NP_775792;Q5VXU9 Hs.428209 1663193;2184447 G31134;SGC38204 FLJ32779;FLJ44067;MGC43661 OTTHUMP00000021923;OTTHUMP00000161933;OTTHUMP00000196461;hypothetical protein LOC158401;uncharacterized protein C9orf84 protein-coding ENSG00000165181 26535 12982 VALIDATED 1605873 C9orf85 chromosome 9 open reading frame 85 9 9 9 q21.13 45099152 45161076 + 73716243 73778193 + 74526423 74588373 + 6480464 15489334;15164053;14702039;12477932;17207965;16712791 138241 E9PN32;F6X0R3;H3BLX8;Q96MD7 ABBA01033843;ABBA01033844;ABBA01033845;ABBA01033846;AK307186;AK311206;AL138751;AMYH01021403;AMYH01021404;BC010179;BC028019;BC052375;BQ020559;BQ431408;BX104173;CB113688;CH471089;NM_182505 AAH52375;ADQ32587;EAW62523;EAW62524;EAW62525;EAW62526;NP_872311;Q96MD7 Hs.534190 1773327;2140991;2175063;5015861;5022425;5022578;5022651;5093240;7185938 A009K05;D10S16;D11S2921;D1S1423;D22S296;G32602;RH69359;WI-13979 MGC61599;RP11-346E17.2 OTTHUMP00000021459;OTTHUMP00000021460;OTTHUMP00000021461;hypothetical protein LOC138241;uncharacterized protein C9orf85 protein-coding ENSG00000155621 28784 12983 VALIDATED 1316505 C9orf96 chromosome 9 open reading frame 96 9 9 9 q34.2 106793768 106821789 + 135233105 135261041 + 136243284 136271220 + 737633;6480464 12477932 15489334;15164053;14702039;12471243;23267103 169436 B4DH61;Q8NE28 ABBA01032458;ABBA01032459;ABBA01032460;ABBA01032461;AK131533;AK131545;AK294947;AL158826;AL593848;AMYH01021800;AMYH01021801;AMYH01021802;BC036504;CH471090;NM_153710;NR_103997 AAH36504;BAD18679;BAG58022;CAI12843;EAW88075;EAW88076;EAW88077;EAW88078;EAW88079;EAW88080;EAW88081;NP_714921;Q8NE28 Hs.720195 1339754;1653548;1683996;1689951;2127411;5021226;7186178 A008L29;Cda18h02;D14S594;D9S164;RH75089;WI-21963 MGC43306;RP11-244N20.8;SgK071;Sk521 OTTHUMP00000022465;probable inactive protein kinase-like protein SgK071;protein kinase-like protein SgK071;sugen kinase 071 protein-coding ENSG00000198870 28669 12990 VALIDATED 1313051 C9orf78 chromosome 9 open reading frame 78 9 9 9 q34.11 103240592 103248602 - 131629385 131637393 - 132589564 132597572 - 6480464 18654987;17081983;15592455;15489334;15302935;15164053;14702039;12477932;12097419;11042152;8889548;16169070;16712791;21832049;18029348;20360068;21900206;21044950;21139048;22863883 51759 Q9NZ63 ABBA01043951;AF151054;AF218421;AK057004;AK097577;AL137549;AL158207;AMYH01021765;AY632862;BC007664;BC017570;BC037173;BU674575;CB128496;CH471090;NM_016520 AAF36140;AAF37561;AAH07664;AAH17570;AAT46619;BAG51840;CAB70805;EAW87909;EAW87910;NP_057604;Q9NZ63 Hs.278429 1762657;2114910;2152953;5015619;5015961;5022322;5024756;5037552 D11S2560;D11S3114;D15S1477;D8S2279;RH71165;RH80030;SHGC-146454;STS-W80591 HCA59;HSPC220;bA409K20.3 OTTHUMP00000022352;chromosome 9 open reading frame 78;hepatocellular carcinoma-associated antigen 59;uncharacterized protein C9orf78 protein-coding ENSG00000136819 24932 10803 VALIDATED 1353846 C9orf9 chromosome 9 open reading frame 9 9 9 9 q34 106296025 106307156 + 134744111 134755239 + 135754290 135765418 + 6480464 12477932;16169070;16303743;15489334;15164053;14702039;21048031;21900206;22505724 11092 Q6ZNY5;Q96E40 ABBA01032479;AJ011375;AK075259;AK130389;AL445645;AMYH01021792;BC012940;CH471090;CQ783377;CR457210;NM_018956 AAH12940;ADZ15821;BAC11503;BAC85340;CAB66158;CAF86580;CAG33491;EAW88018;EAW88019;EAW88020;NP_061829;Q96E40 Hs.62595 1771984;5014051;5015619;5015879;5016478;5020881;5020948;5022578;5037552 2008;D11S3114;D1S1423;D8S2278;D8S2279;G35510;GDB:314949;GDB:434012;L17709 FLJ26879 OTTHUMP00000022441;OTTHUMP00000022442;Rsb-66 protein;Rsb66 homolog;uncharacterized protein C9orf9 protein-coding ENSG00000165698 1367 12986 PROVISIONAL 1321274 C9orf94 chromosome 9 open reading frame 94 9 p22.1 18816146 18900948 + 15489334;15164053;14702039;12477932 206938 AK092602;AK123028;AK128724;AL158150;AL591423;BC100788;BC100789;BC100790;BX640951;NM_001040272 AAI00789;AAI00790;AAI00791;BAC03925;BAC87592;CAE45975;CAM13086;CAM14351;CAM14352;NP_001035362;Q496M7;Q496M8;Q6MZQ3;Q6ZQU1 Hs.643388 FLJ35283;MGC118803;MGC118805 protein-coding 26642 12989 6898050 CA15P1 carbonic anhydrase XV, pseudogene 1 22 19018766 19022784 - 16083424 100996435 ABBA01005426;AC000095 pseudo 44364 MODEL 6902306 CA15P2 carbonic anhydrase XV, pseudogene 2 22 q11.21 20485854 20487364 - 16083424 440795 ABBA01009187;AC023490;AMYH01012507;NG_029357 1683523;1767133;1767135;2112410 A001T42;D22S1611;G19640;RH25381 pseudo 14916 INFERRED 6897921 CA15P3 carbonic anhydrase XV, pseudogene 3 22 q11.21 21708005 21714771 + 16083424 100996556 AP000552;XM_003846306 XP_003846354 carbonic anhydrase 15-like;carbonic anhydrase XV, pseudogene 3 protein-coding 44363 MODEL 1348503 CA11 carbonic anhydrase XI Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46006137 46014315 - 53833084 53841263 - 49141272 49149451 - 1580863;6480464 9878252;16335952;15489334;12975309;12477932;12044474;11311946;10350627;9878543;18450452;21060863;21926972;23300138 770 M0QXK8;O75493 AB018195;ABBA01032978;AC008888;AF050106;AF067662;AMYH01009904;AY358967;BC002662;BT007265;BX440526;CH471177;CR541772;NM_001217 AAC99689;AAD08802;AAH02662;AAP35929;AAQ89326;ACE86910;ACE87597;BAA36840;CAG46571;EAW52376;EAW52377;EAW52378;NP_001208;O75493 Hs.428446 5112293 RH103095 CARP2;CARPX1 CA-RP II;CA-XI;CARP XI;CARP-2;carbonic anhydrase-related protein 11;carbonic anhydrase-related protein 2;carbonic anhydrase-related protein XI APPROVED protein-coding ENSG00000063180 1370 05225 604644 REVIEWED 1320302 CA1 carbonic anhydrase I Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA1 is closely linked to CA2 and CA3 genes on chromosome 8, and it encodes a cytosolic protein which is found at the highest level in erythrocytes. Variants of this gene have been described in some populations. Multiple alternatively spliced variants, encoding the same protein, have been identified. Transcript variants of CA1 utilizing alternative polyA_sites have been described in literature. [provided by RefSeq, Sep 2009] 8 8 q21.2 86427709 86477594 - 86240458 86290342 - 1580863;6480464 2121614;18029348;17464559;17314045;16870440;15837325;15836783;15489334;14675565;12477932;12009884;11680594;11392054;9879596;7866410;7574487;6781336;4632246;4625868;4217196;4207120;3124707;3104879;3088232;1916821;1602151;827930;804171;406674;15342556;19536309;2511043;21143847;17192395;20624682;22416960;22996014;22619369;21900206;22360420;21988832 759 E5RFE7;E5RFL2;E5RG43;E5RG81;E5RGU8;E5RH81;E5RHP7;E5RHS7;E5RIF9;E5RII2;E5RJF6;E5RJI8;H0YBE2;P00915 ABBA01004009;AC025800;AI802646;AMYH01018835;BC027890;BP261967;BU655910;BU656154;BU659301;BU659695;BU664306;BU665210;CH471068;M33987;NG_016221;NM_001128829;NM_001128830;NM_001128831;NM_001164830;NM_001738;X05014 AAA51910;AAH27890;ABM81856;ABM85017;CAA28663;EAW87129;EAW87130;EAW87131;EAW87132;NP_001122301;NP_001122302;NP_001122303;NP_001158302;NP_001729;P00915 Hs.23118 1723615;2148816;2217094 CA1_3942;RH118415;SHGC-31642 CA-I;CAB;Car1 CA-I;CAB;OTTHUMP00000227973;OTTHUMP00000227974;OTTHUMP00000227976;OTTHUMP00000227977;OTTHUMP00000227978;OTTHUMP00000227979;OTTHUMP00000227981;carbonate dehydratase I;carbonic anhydrase 1;carbonic anhydrase B;carbonic dehydratase APPROVED protein-coding ENSG00000133742 1368 00265 114800 REVIEWED 1352724 CA10 carbonic anhydrase X This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.33 47062673 47592376 - 49707674 50237377 - 1580863;6480464 11311946;19240061;19172221;17081983;16344560;15499993;15489334;15328829;12975309;12500287;12477932;12044474;11230166;9921901;8673298;20379614;21102462;23400010 56934 B4DGL6;I3L0J7;I3L375;I3NI54;Q68D28;Q9NS85 AB001597;AB036836;ABBA01041266;ABBA01041267;ABBA01041268;ABBA01041269;ABBA01041270;AC002090;AC004108;AC005883;AC006083;AC016473;AC092713;AF288385;AK294652;AK313001;AL161812;AMYH01008483;AMYH01008484;AW135066;AY358509;BC020577;BC029865;BC047456;BC068462;CH471109;CR749607;DA110822;DA128892;DA518921;NM_001082533;NM_001082534;NM_020178 AAH20577;AAH29865;AAH47456;AAH68462;AAK11974;AAQ88873;ADZ15875;BAB00615;BAB46928;BAG35837;BAG57827;CAB82105;CAH18402;EAW94558;NP_001076002;NP_001076003;NP_064563;Q9NS85 Hs.463466 1335200;1336122;1340733;1341327;1651864;1661830;1665711;1673878;1689320;1695280;1708696;1718705;1722763;1754697;2150280;2181411;2182138;2218326;7186585 A002U30;A008O45;CA10_4487;D17S1388E;D17S1820;D17S2122;D17S809;D17S941;D17S956;G60320;RH11759;RH124024;RH91156;SHGC-133050;SHGC-62998;SHGC-81490;STS-N26826;WI-22496 CA-RPX;CARPX;HUCEP-15 CA-RP X;CARP X;carbonic anhydrase-related protein 10;carbonic anhydrase-related protein X;cerebral protein 15;cerebral protein-15 APPROVED protein-coding ENSG00000154975 1369 05224 604642 REVIEWED 1322168 CA13 carbonic anhydrase XIII Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008] 8 8 8 q21.2 82162764 82201350 + 86345259 86383554 + 86157716 86196302 + 1580863;6480464 18336313;16344560;15836783;15489334;14702039;14600151;12477932;17207965 377677 Q8N1Q1 ABBA01004009;ABBA01004010;AC011773;AC025800;AK095314;AMYH01018835;BC052602;CH471068;DB287770;NM_198584 AAH52602;ADQ32140;BAC04528;EAW87128;NP_940986;Q8N1Q1 Hs.127189 1675969;2126295;5015861;5022425;5037552;7185938 D10S16;D22S296;D8S2279;RH99059;WI-16869 CAXIII;FLJ36434;FLJ37995;MGC59868 CA-XIII;OTTHUMP00000227972;carbonate dehydratase XIII;carbonic anhydrase 13 APPROVED protein-coding ENSG00000185015 14914 12992 611436 VALIDATED 1344775 CA5AP1 carbonic anhydrase VA pseudogene 1 16 p11.2 29630106 29648664 - 7490083;15837316;7490083 764 ABBA01013123;ABBA01013124;ABBA01013125;ABBA01013126;ABBA01013127;AC009086;AMYH01007494;NG_027849;XM_113281 CA5P APPROVED pseudo 1379 INFERRED 1315327 CA12 carbonic anhydrase XII Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 q22 61402783 61461128 - 63615730 63674075 - 6480464;7240710 9636197;18029348;19291313;18451179;18336315;18322268;16416108;15849821;15489334;14702039;14578124;12923247;12854129;12676895;12477932;11680594;11493685;11420383;11238049;11101628;11083462;10666387;10611263;10512682;9770531;8524854;16169070;20132413;20398423;20434230;21035102;21040567;21278619;20215053;20509747;21184099;23348702;22172588;22439015;21139048;21900206;22944692 771 B3KUB4;O43570 ABBA01038912;ABBA01038913;AC087525;AF037335;AF051882;AK000158;AK096845;AK315769;AMYH01006702;BC000278;BC001012;BC011691;BC023981;BC087838;BM994285;BQ440047;BT006656;BU167720;BU944741;CA309380;CH471082;NG_028022;NM_001218;NM_206925 AAC39789;AAC63952;AAH00278;AAH01012;AAH11691;AAH23981;AAP35302;ABM84114;ABM87510;ACE86537;ACE86542;ACE87216;ACE87223;BAA90981;BAG38121;BAG53376;EAW77646;EAW77647;EAW77648;EAW77649;EAW77650;NP_001209;NP_996808;O43570 Hs.210995 1644386;1760859;1763507;1848736;1853234;2107905;2185289 CA12_8238;D15S1357;RH47249;SHGC-144530;SHGC-147205;SHGC-32776;SHGC-36693 CAXII;FLJ20151;HsT18816 CA-XII;OTTHUMP00000163786;OTTHUMP00000163787;carbonate dehydratase XII;carbonic anhydrase 12;carbonic dehydratase;tumor antigen HOM-RCC-3.1.3 APPROVED protein-coding 1371 04464 143860;603263 REVIEWED 1317436 CA14 carbonic anhydrase XIV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008] 1 1 1 q21 123345949 123353209 + 148488047 148504102 + 150230218 150237478 + 1580863;6480464 10512682;17881426;16710414;15489334;14702039;14578124;12975309;12611920;12477932;12028451;11172051;20170095;20379614 23632 A8K3J4;Q9ULX7 AB025904;ABBA01049330;AC242988;AK074765;AK290609;AK295341;AK315469;AL138795;AMYH01001373;AY358689;BC034412;BT020054;CH471121;NM_012113 AAH34412;AAQ89052;AAV38857;ABM84715;ABM92237;BAA85002;BAC11191;BAF83298;BAG37855;BAG58312;CAI22810;EAW53570;EAW53571;EAW53572;EAW53573;EAW53574;NP_036245;Q9ULX7 Hs.528988 1652765;1655085;2109103 CA14_9388;SGC31751;SHGC-32182 CAXiV CA-XIV;OTTHUMP00000014540;carbonate dehydratase XIV;carbonic anhydrase 14;carbonic dehydratase APPROVED protein-coding ENSG00000118298 1372 05320 604832 REVIEWED 6481393 CA5B-AS1 CA5B antisense RNA 1 100873927 AC096510 APPROVED miscrna 40115 1347153 CA5A carbonic anhydrase VA, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 72219173 72267375 - 86479126 86527613 - 87921625 87970112 - 1580863;6480464 8356065;7490083;17174092;10082753;9733757;12477932;20877624;21906983;22632162 763 P35218 ABBA01006923;ABBA01006924;ABBA01006925;AC127455;AC133539;AMYH01007904;BC137405;BC137411;CH471114;L19297;NG_033227;NM_001739;S80181;U25134 AAA02890;AAB47048;AAC99806;AAI37406;AAI37412;EAW95371;EAW95372;NP_001730;P35218 Hs.177446 1685768;1703702;1757011;2128177;2167638 RH70394;RH71359;SHGC-144370;SHGC-64110;SHGC-78863 CA5;CAV;CAVA CA-VA;OTTHUMP00000175040;carbonate dehydratase VA;carbonic anhydrase 5A, mitochondrial;carbonic anhydrase V, mitochondrial;carbonic dehydratase APPROVED protein-coding ENSG00000174990 1377 00262 114761 REVIEWED 1346033 CA5BP1 carbonic anhydrase VB pseudogene 1 X X X p22.2 19808527 19836963 + 15602213 15631236 + 15693039 15721474 + 737633;1580863;6480464 12477932 16344560;12107413 340591 Q8WTZ4;Q9P170 ABBA01071335;ABBA01071336;ABBA01071337;ABBA01071338;ABBA01071339;AC112497;AMYH01022108;BC021816;BQ228866;CD675860;DB271346;NR_026551 Q8WTZ4 Hs.732244 1656675;1699328;1727615;2144835 G31008;G63217;RH103251;RH78665 CA5BL;CA5BP;PRO2325 APPROVED pseudo ENSG00000186312 29544 VALIDATED 1353547 CA3 carbonic anhydrase III, muscle specific Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008] 8 8 q21.2 86537710 86548526 + 86351056 86361269 + 1580863;6480464 3086182;19301202;18444244;18322545;16344560;15489334;14702039;12745799;12484342;12477932;12171926;11976500;11024467;10845711;9890711;9651514;8633035;8506074;7574487;6784712;6770531;6410007;6221502;6119426;3930440;3122635;3110380;3106467;3099285;3000276;2824285;1971453;1905166;1764784;1414196;1361281;120192;17207965;22797148;23049597 761 E5RHI4;P07451 ABBA01004009;AC084734;AJ006473;AK096880;AK300670;AK300677;AK313254;AMYH01018835;BC004897;CH471068;DA421884;M29452;M29453;M29454;M29455;M29456;M29457;M29458;NM_005181 AAA52293;AAH04897;ADQ31847;BAG36064;BAG53390;BAG62355;BAG62360;CAA07056;EAW87133;EAW87134;NP_005172;P07451 Hs.82129 1712218;1722435;1741625;2157558;2168883;5022592 D8S1367E;G54016;G60292;GDB:181594;SHGC-35614;WI-16407 CAIII;Car3;FLJ36434 CA-III;OTTHUMP00000227990;carbonate dehydratase III;carbonic anhydrase 3 APPROVED protein-coding ENSG00000164879 1374 00260 114750 REVIEWED 1353429 CA4 carbonic anhydrase IV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008] 17 17 q23 55582131 55591686 + 58227302 58236907 + 1600730;1580863;6480464;7240710 15090652 1311094;6811592;19211803;18344446;17881426;17652713;17409381;16344560;15563508;15489334;14567693;12477932;11994299;10231836;10090333;9632745;9385361;8942978;8903383;8809084;8675662;8325641;8064130;7672351;7625839;7581389;2116168;2111324;1901414;17207965;20801516;20308551;20450258;20626030;21680735;17500595;23049597;22021688;20301590;21988832;23297198 762 B4DQA4;K7EIH9;K7EKY5;K7ENI8;P22748;Q6FHI7 ABBA01035417;AC025048;AI990988;AK289715;AK298710;AMYH01008526;BC057792;BC069649;BC074768;CH471109;CR541766;DA113846;L10955;M83670;NG_012050;NM_000717 AAA35625;AAA35626;AAA35630;AAH57792;AAH69649;AAH74768;ADQ32513;BAF82404;BAG60866;CAG46565;EAW94361;EAW94362;EAW94363;NP_000708;P22748 Hs.89485 1337712;1339975;1676488;2180226 D17S807;D17S808;RH71355;RH79679 CAIV;Car4;RP17 CA-IV;carbonate dehydratase IV;carbonic anhydrase 4;carbonic dehydratase IV APPROVED protein-coding ENSG00000167434 1375 00261 114760;600852 REVIEWED 737257 CA2 carbonic anhydrase II CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. [provided by RefSeq, Jul 2008] 8 8 q22 86563383 86580973 + 86376131 86393721 + 1600698;1600710;1580863;1300048;6480464;6907045;7240710 1301935;10977795 1928091;3151020;114507;18029348;19371798;19034380;19012038;18942852;18580434;18539591;18323598;18247480;18189416;18083150;18060825;17881426;17631639;17363915;17319695;17319692;17202139;16996812;16825953;16687407;16475831;16344560;16265785;16169070;16106378;15952740;15837325;15837316;15836783;15667203;15489334;15453828;15300855;15218065;15062553;15049705;14760703;14736710;14718574;14675565;14578124;14567693;12933803;12826902;12566520;12501217;12477932;12411514;12171926;12138085;12056894;11956656;11606574;11457932;11264157;11076507;11063570;10821857;10820026;10811634;10423017;10333352;10231836;9890926;9774471;9541386;9453381;9336790;9205766;9150731;9143915;8834238;8460098;8128957;8127074;7930522;7627193;7574487;6817747;6407977;4624444;4621826;4207120;3925334;3221988;3151019;3121496;3108857;3107918;3081869;3000449;2850697;2123360;2121671;2117271;1977133;1925679;1602151;1542674;823150;20398423;20578724;20081808;20637176;20693695;14675051;19269136;19407386;19415900;19520834;19583303;19615732;19634894;19686046;20000378;20025241;20170095;20297840;20445237;20445238;20634585;20509747;22416960;21282642;21145876;23030313;23181366;21243755;16196087;21543742;20849852;22001224;21680735;22732064;20360068;21988105;21139048;21890473;22386980;21145461;22192857;15990874;23215152;23098192 760 E5RID5;E5RK37;P00918 ABBA01004009;AC084734;AF015039;AK312978;AMYH01018835;BC011949;BC035424;CH471068;CR536526;CR541875;DA431650;J03037;M36532;M77178;M77181;NG_007287;NM_000067;S69526;X03251;Y00339 AAA51908;AAA51909;AAA51911;AAB30170;AAH11949;ABM82246;ABM85430;BAG35815;CAA27012;CAA68426;CAG38763;CAG46673;EAW87136;NP_000058;P00918 Hs.155097 1694926;1722451;1852788;2114723;5109679 D8S1418E;D8S1912;G44354;G60153;RH11468 CA-II;CAC;CAII;Car2 CAC;OTTHUMP00000227991;carbonate dehydratase II;carbonic anhydrase 2;carbonic anhydrase B;carbonic anhydrase C;carbonic dehydratase APPROVED protein-coding ENSG00000104267 1373 02023 259730;611492 REVIEWED 1323700 CA6 carbonic anhydrase VI The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008] 1 1 p36.2 8928509 8957738 + 9005893 9035151 + 1580863;6480464 22198626;2433278;17499996;16710414;15342556;12477932;11875253;11553764;11304804;11303978;10705347;10523402;10415846;10207193;9784398;9691177;9439449;8429198;2505973;2113069;1899030;19721466;20379614;20631203;22366092;21631296;21712049 765 B4DUH8;F8W148;P23280;Q8N4G4 AB102863;AB103091;ABBA01035528;ABBA01035529;ABBA01035530;ABBA01035531;AF128418;AK300652;AL139415;AMYH01000230;BC034350;BP333541;BP334640;BX282262;CB956732;CH471130;M57892;NM_001215;NM_001270500;NM_001270501;NM_001270502 AAA51892;AAF22565;AAH34350;ADZ15992;BAD89397;BAD89434;BAG62340;EAW71606;NP_001206;NP_001257429;NP_001257430;NP_001257431;P23280 Hs.100322 1745773;2129525 GDB:636125;SHGC-74181 CA-VI;GUSTIN;MGC21256 OTTHUMP00000001699;OTTHUMP00000242906;OTTHUMP00000242907;carbonate dehydratase VI;carbonic anhydrase 6;salivary carbonic anhydrase;secreted carbonic anhydrase APPROVED protein-coding ENSG00000131686 1380 00264 114780 REVIEWED 1343079 CA5B carbonic anhydrase VB, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008] X X X p21.1 19872853 19923232 + 15666333 15715669 + 15756412 15805748 + 1580863;6480464 10677517;10409679;17174092;15489334;15342556;14702039;12477932;11303978;7574487;17207965;19322201 11238 C9IZP3;C9JA11;H7C4G3;Q9Y2D0 AA811880;AB021660;ABBA01071344;ABBA01071345;ABBA01071346;ABBA01071347;ABBA01071348;ABBA01071349;ABBA01071350;ABBA01071351;AC096510;AC112497;AK057568;AK291050;AMYH01022109;AMYH01022110;BC028142;BP371510;CH471074;NG_012766;NM_007220 AAH28142;ADQ32291;BAA76671;BAF83739;EAW98895;EAW98896;EAW98897;EAW98898;NP_009151;Q9Y2D0 Hs.744128 1656445;1656675;1681895;1701782;1702968;1852010;2114626;2143170;5014051;5015619;5016596;5020948;5022200;5022450;5037552;5112017 Cda1bf09;D10S275;D11S3114;D8S2278;D8S2279;DXS1292;DXS1351;DXS6753;G24103;G31008;G35510;G44365;GDB:631802;L17739;L18426;RH47691 CA-VB;MGC39962 OTTHUMP00000215056;carbonate dehydratase VB;carbonic anhydrase 5B, mitochondrial;carbonic dehydratase APPROVED protein-coding ENSG00000169239 1378 02207 300230 REVIEWED 1315686 CA7 carbonic anhydrase VII Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51386593 51396359 + 65435783 65445551 + 66878282 66888050 + 1580863;6480464 1783392;15686895;15528236;15489334;12477932;12417987;11875253;10493829;7574487;20493921 766 F8W0L0;P43166 ABBA01025418;AC004638;AC044802;AMYH01007742;AY075019;AY075020;BC033865;BI752037;CH471092;M76420;M76421;M76422;M76423;M76424;M76425;NM_001014435;NM_005182 AAA51923;AAC23785;AAH33865;AAL78167;AAL78168;ABM86190;ABW03694;EAW83044;EAW83045;EAW83046;EAW83047;NP_001014435;NP_005173;P43166 Hs.37014 2115806;2218328 CA7_4490;SHGC-60620 CAVII CA-VII;OTTHUMP00000174821;OTTHUMP00000242940;carbonate dehydratase VII;carbonic anhydrase 7;carbonic dehydratase VII APPROVED protein-coding ENSG00000168748 1381 00263 114770 REVIEWED 1312313 CA8 carbonic anhydrase VIII The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008] 8 8 q12.1 61263977 61356508 - 61101423 61193954 - 1580863;6480464;7240710 8977131;19461874;19172221;17219437;15489334;14702039;12611586;12536316;12477932;12044474;8482548;7821612;7587398;16169070;17207965;19360879;20819067;21348951;21812104;21139048;21890473;22952603;23251661 767 P35219 ABBA01041806;ABBA01041807;ABBA01041808;AC021393;AC132834;AK090655;AK289470;AK293999;AK314538;AMYH01018752;AY075022;BC015531;BC069744;BC069794;BC108929;BM462961;BU182748;CH471068;L04656;NG_023193;NM_004056 AAA35653;AAH69744;AAH69794;AAI08930;AAL78170;ADQ32952;BAF82159;BAG37128;BAG52209;BAG57361;EAW86824;EAW86825;EAW86826;NP_004047;P35219 Hs.654388 1663421;1669014;1672244;1673079;1696372;1698416;1716197;1718613;1847711;1849836;1855476;1855563;2140741;2150351;2165212;2175435 RH102752;RH121122;RH122992;RH16300;RH16303;RH70118;RH70985;SGC34477;SGC44649;SHGC-32354;SHGC-34991;SHGC-44649;SHGC-77819;STS-H58922;WI-17948;WI-21909 CA-VIII;CALS;CAMRQ3;CARP;MGC120502;MGC99509 CA-related protein;OTTHUMP00000229370;carbonate dehydratase;carbonic anhydrase-like sequence;carbonic anhydrase-related protein APPROVED protein-coding 1382 00266 114815;613227 REVIEWED 1315034 CA9 carbonic anhydrase IX Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and the only tumor-associated carbonic anhydrase isoenzyme known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jul 2008] 9 9 p13.3 35663915 35671152 + 35673915 35681156 + 1580863;2293190;2293194;2293199;2293200;2293204;2293196;2293198;2293201;2298945;2298947;2298946;2293191;2293193;2293195;2293197;6480464;6484113 18483361;17280655;12883698;12687273;16714773;17233814;12966427;11506497;17452774;15069539;17429140;18464292;17308115;17245699;14520462 22289741;8661007;19367501;19291313;19204726;19165203;19074859;19022520;19008051;18941400;18841153;18728663;18703501;18695901;18676750;18482982;18440050;18336316;18336315;18290322;18173856;18060036;18026188;17906661;17855694;17852557;17706406;17674038;17652430;17536770;17452775;17390110;17367605;17200340;16964400;16954440;16944313;16533775;16428489;16416108;16288478;16243791;16168127;15935515;15856466;15849821;15847702;15837325;15833446;15809767;15671533;15585626;15556624;15500003;15489334;15340161;15240538;15199132;15184875;14654550;14578124;14567991;12865916;12854129;12676895;12615703;12576453;12560438;12477932;12154057;12137853;11705854;11680594;11676494;11303978;11083462;10709109;9787087;9770531;9524195;9024293;8486430;8084592;1312272;22430125;22484976;20398423;20526721;21223596;21281785;21306648;22367930;20819778;20840814;21040473;21088149;18976937;19347577;19458084;19469910;19473055;19539328;19540352;19564335;19619339;19805286;19861127;19950233;20127031;20170095;20358226;20461082;20038959;20423227;20224781;19808899;19913121;20514415;20628086;20521252;20964835;20978319;23181366;21209841;21454639;22918393;21302028;21363891;22939629;21966417;21691815;21959110;21090098;21442770;21761968;19017360;19523858;21249485;21547579;21694464;21870331;16236267;22175902;22199327;22037869;22976806;23226559;21519917;21910893;22170054;22486898;22147747;22465027;20875751;21745383;22133596;22699808;22843905;23226406;23074198;23098453;23299542;23372804;20822935;22436629;22366443;23263636 768 Q16790 ABBA01064988;AI023541;AJ010588;AL133410;AL357874;AL554705;AMYH01019347;BC014950;CH471071;EF122496;HC729665;NM_001216;X66839;Z54349 AAH14950;ABL67717;ABM83134;ABM86330;CAA47315;CAB82444;CBL94025;EAW58359;NP_001207;Q16790 Hs.63287 2132345;2138117 RH66792;STS-X66839 CAIX;MN CA-IX;OTTHUMP00000022773;P54/58N;RCC-associated antigen G250;RCC-associated protein G250;carbonate dehydratase IX;carbonic anhydrase 9;carbonic dehydratase;membrane antigen MN;pMW1;renal cell carcinoma-associated antigen G250 APPROVED protein-coding ENSG00000107159 1383 04417 603179 REVIEWED 1345026 CABLES2 Cdk5 and Abl enzyme substrate 2 20 20 20 q13.33 57698960 57717613 - 60397081 60415734 - 60963686 60982339 - 737633;1580863;6480464 12477932 15489334;14637168;11955625;11780052;20056645 81928 H0Y5H2;Q9BTV7 ABBA01040087;AI066606;AL121832;AMYH01012053;AMYH01012054;BC003122;BC011196;BU166894;CA420818;CB960872;CH471077;NM_031215;XM_003960792 AAH03122;EAW75364;EAW75365;EAW75366;NP_112492;Q9BTV7;XP_003960841 Hs.301040 1650878;1669353;2110999 D20S141E;RH12076;RH64856 C20orf150;dJ908M14.2;ik3-2 CDK5 and ABL1 enzyme substrate 2;OTTHUMP00000031481;OTTHUMP00000031482;interactor with CDK3 2 protein-coding ENSG00000149679 16143 12994 VALIDATED 1344567 CAAP1 caspase activity and apoptosis inhibitor 1 9 9 9 p21.2 26768847 26820992 - 26830683 26882725 - 26840683 26892826 - 6480464 19240061;17081983;15489334;15164053;14702039;12477932;9110174;8619474;16169070;15302935;15342556;20379614;17207965;23383273;21832049;19322201;21980415 79886 E5RFV1;E5RFW3;Q9H8G2 ABBA01065135;AF131768;AK023719;AK300739;AK301673;AL356133;AMYH01019295;BC014658;BC071953;BP228742;BP374752;CH471071;NM_001167575;NM_024828 AAH14658;AAH71953;ADQ32016;BAB14655;BAG62409;BAG63146;EAW58576;EAW58577;EAW58578;EAW58579;NP_001161047;NP_079104;Q9H8G2 Hs.178357 1771102;1848124;2121485;2175608 A007F33;D9S2086;WI-13926;WI-21850 C9orf82;CAAP;FLJ13657;RP11-337A23.1 OTTHUMP00000021163;caspase activity and apoptosis inhibitor 1;conserved anti-apoptotic protein;hypothetical protein LOC79886;uncharacterized protein C9orf82 APPROVED protein-coding ENSG00000120159 25834 12981 VALIDATED 1345299 CABP3 calcium binding protein 3 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of the CABP5 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP5. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. [provided by RefSeq] q13.33 1580863 10625670;11785943 51476 AF170816;AF170817;AF170818;AF224511 AAF27810;AAF27811;Q9NZU6 protein-coding 15960 1313589 CABLES1 Cdk5 and Abl enzyme substrate 1 This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 18 18 q11.2 18969725 19092615 + 20714528 20840434 + 737633;1580863;6480464 12477932 11706030;17101133;19266077;18391951;18059193;17982127;16964243;16177791;16177568;15489334;14729625;14702039;14637168;13679449;12612882;11955625;11733001;11585773;11527406;10896159;10873625;19247474;20189936;20694014;20546612;15174051;23455922;23505323;21890215;20881960;22139419 91768 A7K6Y5;J3QRY5;Q8TDN4 ABBA01022639;ABBA01022640;ABBA01022641;AC011731;AC105247;AF348525;AK025627;AK093243;AK296407;AK304880;AMYH01008884;AMYH01008885;BC004124;BC015686;BC037218;CH471088;EF028204;EF444961;NM_001100619;NM_001256438;NM_138375;NR_023359 AAH04124;AAH37218;AAL83906;ABL77400;ACA05957;BAC04107;BAG59072;BAG65617;EAX01147;EAX01148;NP_001094089;NP_001243367;NP_612384;Q8TDN4 Hs.11108 1774728;2136073 A004P17;UniSTS:37732 CABL1;CABLES;FLJ35924;HsT2563;IK3-1 CDK5 and ABL1 enzyme substrate 1;interactor with CDK3 1 APPROVED protein-coding ENSG00000134508 25097 16461 609194 VALIDATED 1314979 CAB39 calcium binding protein 39 2 2 q37.1 231285909 231394031 + 231577557 231685790 + 1600678;1580863;6480464;6907045 15509864 17353931;19386264;18854318;16344560;15561763;15489334;15183188;14976552;14730349;14676191;14517248;12477932;10810093;8910387;20562859;16054041;19513107;19892943;21423148;22939629;21139048;21890473;21906983;22318606;22179124 51719 A8K8L7;Q9Y376 AB073893;ABBA01050113;ABBA01050114;AC012507;AC084031;AF113536;AF134480;AF151824;AK000804;AK026335;AK292382;AK315692;AMYH01011551;AMYH01011552;AMYH01011553;BC020570;BG773506;CH471063;DA886579;DB455871;NM_001130849;NM_001130850;NM_016289 AAD34061;AAF14873;AAH20570;AAP97257;AAY14829;BAF85071;BAG38055;EAW70932;EAW70933;NP_001124321;NP_001124322;NP_057373;Q9Y376 Hs.603930 1339006;1645935;1653878;1678945;1705866;1734812;1855398;2110293;2158794;2169583;2170729;5024613 A002Q38;CAB39_9754;D2S1575E;D2S2340;G06903;NIB1194;RH46522;RH68250;RH69702;RH94102;SHGC-81194;WI-17440 CGI-66;FLJ22682;MO25 MO25alpha;OTTHUMP00000164293;OTTHUMP00000204438;OTTHUMP00000204439;calcium-binding protein 39 protein-coding ENSG00000135932 20292 10091 612174 VALIDATED 732324 CABIN1 calcineurin binding protein 1 Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011] 22 22 q11.23 22737765 22904596 + 24407765 24574596 + 734676;6480464 8896451 9655484;17531200;15902271;15683985;15671033;15063762;14718166;14623296;12700764;12477932;11714752;10933397;10931822;10825153;10591208;10531067;9205841;9150134;19505873;19913121;20628086;17172641;19668210;19717561;19817957;20075944;20379614;21414300;18029348;21139048;22195966;23624525;21807893;22401310;22275266 23523 B5MEB3;C9J068;C9JT60;G5E9F3;Q6PHY0;Q9Y6J0 AB002328;ABBA01055126;ABBA01055127;ABBA01055128;ABBA01055129;ABBA01055130;AF072441;AK307522;AL390166;AL703593;AMYH01012660;AMYH01012661;AMYH01012662;AP000351;AP000352;AP000353;BC013099;BC021929;BC028969;BC041659;BC054497;CH471095;NM_001199281;NM_001201429;NM_012295;Z92546 AAD40846;AAH21929;AAH28969;AAH41659;AAH54497;BAA20788;CAB62954;CAB99097;EAW59637;EAW59638;EAW59639;EAW59640;NP_001186210;NP_001188358;NP_036427;Q9Y6J0 Hs.517478 1335420;1646075;1646202;1696902;1697454;1733266;1759157;1759941;1772850;2121477;2218330 CABIN1_4493;D22S1174;D22S345;D22S613;D22S651;G18177;RH101917;RH102228;SHGC-150952;SHGC-170345;STS-R43261 CAIN;KIAA0330;PPP3IN OTTHUMP00000198540;OTTHUMP00000198541;OTTHUMP00000208363;cain;calcineurin binding protein cabin 1;calcineurin inhibitor;calcineurin-binding protein cabin-1 APPROVED protein-coding ENSG00000099991 24187 10369 604251 REVIEWED 1319011 CAB39L calcium binding protein 39-like 13 13 13 q14.2 30938637 31073173 - 48780787 48916222 - 49882786 50018221 - 1580863;6480464;6907045 17353931;18592235;16344560;15489334;15057823;14702039;12601173;12477932;8889548;16054041;20379614;20562859;21240483;20706999;23135622 81617 B7ZBJ4;B7ZBJ5;B7ZBJ6;B7ZBJ7;Q5TAW7;Q9H9S4 AA278473;ABBA01051015;ABBA01051016;AK022639;AK309011;AL136218;AL138875;AMYH01005107;AMYH01005108;AY211923;AY288977;BC010993;BX647518;CA450475;CH471075;DA146462;DB279812;NM_001079670;NM_030925 AAH10993;AAO65176;AAQ93064;BAB14147;EAX08820;EAX08821;EAX08822;EAX08823;NP_001073138;NP_112187;Q9H9S4 Hs.87159 1334605;1646976;1682483;1699448;1761641;2110291;2138912;2158159;2166912;7186549 CAB39L__4492;D13S1185;D13S165;D13S1678;G17736;RH103315;RH91905;SHGC-145628;STS-N23383 FLJ12577;MO25-BETA;MO2L;RP11-103J18.3;bA103J18.3 MO25beta;OTTHUMP00000018410;OTTHUMP00000018411;OTTHUMP00000018412;OTTHUMP00000205794;U937-associated antigen;antigen MLAA-34;calcium-binding protein 39-like;mo25-like protein;sarcoma antigen NY-SAR-79 protein-coding ENSG00000102547 20290 12993 612175 VALIDATED 1348796 CABP7 calcium binding protein 7 22 22 22 q12.2 13916071 13927549 + 28446344 28457822 + 30116344 30127822 + 737633;6480464 12477932 19338761;15489334;11785943;7566098;22989873 164633 Q86V35 AA351919;ABBA01055274;ABBA01055275;ABBA01055276;ABBA01055277;AC004882;AMYH01012701;AMYH01012702;BC051805;BX488512;CH471095;NM_182527 AAH51805;ADR82654;EAW59834;EAW59835;NP_872333;Q86V35 Hs.643608 1678875;1682846;1772798;1850863;2174924 A007D33;RH27831;RH45735;STS-L11353;WI-12398 CALN2;MGC57793 OTTHUMP00000199672;calcium-binding protein 7;calneuron 2;calneuron II;calneuron-2 protein-coding ENSG00000100314 20834 12995 VALIDATED 1345908 CABYRP1 calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1 3 3 3 p21.1 54048406 54049611 - 54056514 54058124 - 54081687 54082892 - 266954 ABBA01024468;AC115282;AMYH01013196;NG_002394 1699816 RH103515 CABYRP calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) pseudogene;calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) pseudogene APPROVED pseudo 31902 INFERRED 1344745 CACD central areolar choroidal dystrophy 7240710 8733141;9733038 772 1387 731282 CABP1 calcium binding protein 1 Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012] 12 12 q24.31 119562805 119589510 + 121078422 121105127 + 1580863;6480464;7204681 20668007 14570872;12477932;11865310;10625670;8889548;14685260;12032348;11108966;9920909;15980432;15140941;19008222;17960496;16470652;16147998;14702039;22693956;21134641;21383011;22996592;19338761;21608059 9478 C9J8G2;Q9NZU7 ABBA01020131;ABBA01020132;AC069234;AF169148;AF169149;AK127203;AL533429;AMYH01004803;BC015006;BC030201;BM716422;BQ188859;CH471054;NG_029321;NM_001033677;NM_004276;NM_031205 AAF25782;AAF25783;AAH30201;ABM86439;ABW03794;EAW98209;EAW98210;EAW98211;NP_001028849;NP_004267;NP_112482;Q9NZU7 Hs.458482 1698862;2130496 D12S183;RH102996 CALBRAIN;HCALB_BR OTTHUMP00000210617;OTTHUMP00000210618;OTTHUMP00000210619;OTTHUMP00000210620;calcium binding protein 5;calcium-binding protein 1;caldendrin APPROVED protein-coding ENSG00000157782 1384 605563 REVIEWED 1348224 CABP2 calcium binding protein 2 This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction.[provided by RefSeq, Nov 2010] 11 11 11 q13.1 64620821 64625302 - 67042994 67047475 - 67286418 67290899 - 1580863;6480464;7204681 20668007 10625670;12477932;11415439;11108966;21697133;19338761;22981119 51475 F5H458;Q9NPB3 AB593136;ABBA01024030;AF169154;AF170811;AMYH01003747;AP001184;BC018476;CH471076;NG_032982;NM_016366 AAF25788;AAF26283;AAI52747;BAJ84076;EAW74645;EAW74646;EAW74647;NP_057450;Q9NPB3 Hs.278984 DFNB93 OTTHUMP00000237584;OTTHUMP00000238412;calcium-binding protein 2 APPROVED protein-coding ENSG00000167791 1385 09535 607314;614899 REVIEWED 1604567 CABS1 calcium-binding protein, spermatid-specific 1 4 4 4 q13.3 68558418 68560580 + 71235260 71237422 + 71200671 71202833 + 6480464 16344560;14702039;12477932;19208547;19271754;17207965 85438 Q96KC9 ABBA01022926;AC106884;AF380838;AK057459;AK315022;AMYH01014276;BC034492;BC046111;BX098854;CH471057;DB027445;HC007196;HC044633;NM_033122 AAH46111;AAK57455;ADQ33118;BAB71497;BAG37512;CBH19403;CBH30646;EAX05615;EAX05616;NP_149113;Q96KC9 Hs.120316 1697370 RH102183 C4orf35;CLPH;FLJ32897;NYD-SP26 OTTHUMP00000159771;calcium-binding and spermatid-specific protein 1;calcium-binding protein, sperm-specific 1;casein-like phosphoprotein;testis development protein NYD-SP26 APPROVED protein-coding ENSG00000145309 30710 14865 VALIDATED 1314493 CABP4 calcium binding protein 4 This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. [provided by RefSeq, Mar 2010] 11 11 11 q13.2 64556021 64562452 + 66979394 66983267 + 67222818 67229245 + 1580863;6480464;7204681;7240710 20668007 16960802;15452577;10625670;19074807;16554811;15489334;12477932;1316906;20157620;8889548;20801516;22936811;19338761 57010 F5H3E8;P57796 ABBA01024032;AMYH01003747;AP003419;AY039217;BC033167;BM665388;CH471076;NG_021211;NM_145200 AAH33167;AAK83462;EAW74627;EAW74628;EAW74629;EAW74630;NP_660201;P57796 Hs.143036 1733720;5016478;5037552 D11S2072;D8S2279;GDB:434012 CSNB2B OTTHUMP00000237645;OTTHUMP00000237671;calcium-binding protein 4 APPROVED protein-coding 1386 12344 608965;610427 REVIEWED 1317691 CABP5 calcium binding protein 5 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] 19 19 19 q13.33 45398355 45412448 - 53225022 53239116 - 48532640 48547311 - 1580863 10625670;15489334;12477932;11785943;8889548;11108966;7566098;19338761;18029348 56344 Q9NP86 AA318398;ABBA01033017;ABBA01033018;AC010330;AC010458;AF169159;AF170812;AF170813;AF170814;AF170815;AMYH01009896;BC126133;BC126135;BQ185108;BU734136;CH471177;NM_019855 AAF25793;AAF25798;AAI26134;AAI26136;ADR82830;EAW52310;NP_062829;Q9NP86 Hs.117694 2149490 SHGC-30732 CABP3 Calcium-binding protein 3;calcium-binding protein 5 APPROVED protein-coding 13714 09537 607315 REVIEWED 735950 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] 19 19 p13 13178256 13478274 - 13317256 13617274 - 1358570;734669;1358446;2311105;6480464;6907045;7240710;7204688 10945665;11342703;14530926;16868246;21746798 22190617;8692999;11865310;12451115;16595610;8825650;19527141;19429006;19259763;19235102;19189122;19145126;19007941;18976783;18973067;18940563;18758887;18755274;18670797;18644040;18606230;18602318;18581134;18541804;18513263;18498393;18478327;18437043;18413478;18400034;18338196;18313928;18285829;18279427;18162541;18056581;17672918;17654512;17588611;17573560;17438119;17418573;17292920;17289272;17119788;17020933;16508934;16389595;16382099;16373336;16325861;16306128;16186543;16043807;15985579;15827025;15826995;15795222;15743764;15728831;15710862;15545010;15504897;15504896;15474358;15452324;15448138;15362569;15293273;15254089;15240985;15223312;15210532;15057824;15026782;15026160;15003170;14756671;14681882;14592859;14570872;14534930;12756131;12736095;12707077;12676347;12545428;12542511;12527722;12461694;12235360;12056940;12049805;11971066;11960817;11843866;11804332;11803518;11742003;11723274;11320173;11179022;11176968;11061267;10987655;10753886;10737800;10607897;10212211;10049321;9600739;9442082;9311738;9303303;9302278;9259275;9238069;9009193;8988170;8898206;8525433;8220421;7823133;1370480;15953418;21078624;20156848;19242091;19438926;19486177;19520699;19586927;19633872;19811514;19864665;20069235;20071244;20080591;20129625;20379614;19336002;19624685;20484531;20043227;20837964;20091047;20301319;20301674;20495360;21183743;20631222;19182766;22549042;22969264;16147992;20043243;21788606;21827907;21827920;21186355;21768184;22942164;23255606;21965686;22074995;21440913;21696515;21906983;20301562;21550405;23407676;23103419 773 B5TYJ1;I3L2V5;I3L313;I3L391;K7EIF8;K7EKF7;K7EQ95;Q99792;Q9NS89 AB035726;AB035727;ABBA01029742;ABBA01029743;ABBA01029744;ABBA01029745;ABBA01029746;ABBA01029747;ABBA01029748;ABBA01029749;ABBA01029750;ABBA01029751;AC005305;AC005513;AC008540;AC011446;AC022436;AC026805;AC093062;AC098781;AC124224;AF004883;AF004884;AF100774;AF144098;AF152345;AMYH01009503;AMYH01009504;AMYH01009505;AMYH01009506;AMYH01009507;BQ340521;CH471106;FJ040507;NG_011569;NM_000068;NM_001127221;NM_001127222;NM_001174080;NM_023035;S76537;U06702;U79663;U79664;U79665;U79666;U79667;U79668;X99897 AAB33068;AAB49674;AAB49675;AAB49676;AAB49677;AAB49678;AAB61612;AAB61613;AAB64179;AAC26839;AAC77460;AAD38386;AAF03935;ACH89974;BAA94765;BAA94766;CAA68172;EAW84361;EAW84362;EAW84363;EAW84364;EAW84365;EAW84366;NP_000059;NP_001120693;NP_001120694;NP_001167551;NP_075461;O00555 Hs.501632 1338443;1710728;1721999;1728735;1728737;1767776;2112236;5019597;5019599;5019601;5019603;5019605;5092486;5092488;5092490;5092492;5092494;5092496;5092498;5092500;5092502;5092504;5092506;5092508;5092510;5092512;5092514;5092516;5092518;5092520;5092522;5092524;5092528;5092534;5092538;5092540;5092542;5092544;5092546;5092548;5092550;5092552;5092554;5092556;5092558;5092560;5092562;5092564;5092566;5092568;5092570;5092572;5092574 D19S1150;D19S564;G49217;G49219;G54374;G54375;G54376;G54377;G54378;G54379;G54380;G54381;G54382;G54383;G54384;G54385;G54386;G54387;G54388;G54389;G54390;G54391;G54392;G54393;G54394;G54395;G54397;G54398;G54401;G54403;G54404;G54405;G54406;G54407;G54408;G54409;G54410;G54411;G54412;G54413;G54414;G54415;G54416;G54417;G54418;G54419;G54420;G54422;G54423;G54424;G59885;RH48188;SHGC-83991 APCA;BI;CACNL1A4;CAV2.1;EA2;FHM;HPCA;MHP;MHP1;SCA6 BI;brain calcium channel 1;brain calcium channel I;calcium channel, L type, alpha-1 polypeptide;calcium channel, voltage-dependent, alpha 1a subunit;voltage-dependent P/Q-type calcium channel subunit alpha-1A;voltage-gated calcium channel subunit alpha Cav2.1 APPROVED protein-coding ENSG00000141837 1388 03004 108500;141500;183086;601011 REVIEWED 6481192 CACNA1C-AS2 CACNA1C antisense RNA 2 100874235 AC007618 APPROVED miscrna 40118 6481187 CACNA1C-AS4 CACNA1C antisense RNA 4 12 2329703 2332647 - 16344560 100874234 ABBA01048809;AC005344;AMYH01004179;BI830379;DB094045;NR_046578 Hs.372570 APPROVED miscrna ENSG00000256025 40116 VALIDATED 6480960 CACNA1C-IT1 CACNA1C intronic transcript 1 (non-protein coding) 100874368 AC005342 miscrna 41312 6480963 CACNA1C-IT2 CACNA1C intronic transcript 2 (non-protein coding) 100874369 AC005342 miscrna 41313 6480961 CACNA1C-IT3 CACNA1C intronic transcript 3 (non-protein coding) 12 2378942 2397911 + 100874370 AA421533;ABBA01048808;AC005293;AC005344;AMYH01004179;NR_046769 Hs.653548 miscrna 41314 VALIDATED 6483983 CACNA1C-AS1 CACNA1C antisense RNA 1 12 2785167 2800323 - 14702039;16344560 100652846 ABBA01048802;ABBA01048803;ABBA01048804;AC007618;AK093746;AMYH01004180;DB156888;NG_008801;NR_045725 Hs.683896 FLJ36427 APPROVED miscrna ENSG00000246627 40119 VALIDATED 1349000 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 18 18 q11.2 19972953 19995562 + 21718955 21741564 + 1580863;6480464 17317841;16139264;15752768;15489334;12509440;12477932;11820818;11730911;8125298;7849610;21240291;21274509;17207965;20379614;20954286;18421703;22285430;18029348;22990118;16344560 26256 G5E9E5;J3KRI0;J3KT09;J3KTE8;J3QLW5;J3QQK7;O75952 ABBA01022619;AC090772;AF088868;AF295037;AF295038;AF295039;AF329634;AK225858;AK301889;AK313243;AMYH01008891;AY007205;BC011996;CH471088;DB055487;HM594163;HM594164;HM594165;HM594166;HM594167;HM594168;HM594169;HQ659768;HY051562;NM_012189;NM_138643;NM_138644;NM_153768;NM_153769;NM_153770 AAC35373;AAG01891;AAG17889;AAG17890;AAG17891;AAH11996;AAL56051;ADK33596;ADK33597;ADK33598;ADK33599;ADK33600;ADK33601;ADQ32700;ADX30691;BAG36054;BAG63320;EAX01174;EAX01175;EAX01176;EAX01177;EAX01178;EAX01179;NP_036321;NP_619584;NP_619585;NP_722452;NP_722453;NP_722454;O75952 Hs.511983 1689065;1699816 RH103515;RH79977 CABYRa;CABYRc;CABYRc/d;CABYRe;CBP86;CT88;FSP-2;FSP2;MGC9117 OTTHUMP00000035470;OTTHUMP00000162776;OTTHUMP00000162777;OTTHUMP00000162778;calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);calcium-binding protein 86;calcium-binding tyrosine phosphorylation-regulated protein;calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2);cancer/testis antigen 88;fibrousheathin 2;fibrousheathin II;fibrousheathin-2;testis-specific calcium-binding protein CBP86 APPROVED protein-coding ENSG00000154040 15569 10806 612135 REVIEWED 735457 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 3 3 p14.3 53504116 53821001 + 53529031 53846492 + 704382;1300292;1580863;2311105;6480464;6906919;6907045;6906922;7204688 12591156;10929716;16868246;18947822;16026470;21746798 11160515;19339512;19240061;19225208;19004828;18482979;17081983;16973824;16921373;15939813;14981074;11581302;11441182;11424233;11292657;11285265;10468580;8738134;7557998;1849233;1664412;1324226;1309948;1309651;17257825;19351867;19885716;20379614;20424473;21076409;20363327;21131953;21859974;21737448;21998309;21998310;21352396;21901158;17110593;23229155;23396134 776 B7Z269;F5H313;H7C4S8;Q01668;Q59GD8 AB209171;ABBA01024471;ABBA01024472;AC005905;AC012467;AC024149;AC132810;AF055575;AK294397;AK294585;AMYH01013194;AMYH01013195;AW008794;CH471055;D43747;EU363339;M76558;M83566;NG_032999;NM_000720;NM_001128839;NM_001128840 AAA35629;AAA58402;AAD08651;ABY66526;BAA07804;BAD92408;BAG57776;BAH11755;EAW65286;EAW65287;EAW65288;EAW65289;EAW65290;EAW65291;EAW65292;EAW65293;EAW65294;EAW65295;NP_000711;NP_001122311;NP_001122312;Q01668 Hs.476358 1336929;1672212;1672973;1700824;1743083;1745405;1755707;1755725;1766443;1779400;1784696;2120484;2138063;2174533;5093216;5094630;5125449;7184262;7184264 A009J32;D3S1578;D3S3101;D3S3905;G32588;GDB:251823;GDB:606284;PMC18246P1;RH104037;SHGC-142550;SHGC-142572;SHGC-149368;SHGC-149773;SHGC-153389;SHGC-30332;SHGC-32456;SHGC-77009 CACH3;CACN4;CACNL1A2;CCHL1A2;Cav1.3;SANDD OTTHUMP00000212730;OTTHUMP00000212731;OTTHUMP00000212732;OTTHUMP00000212733;calcium channel, L type, alpha-1 polypeptide, isoform 2;calcium channel, neuroendocrine/brain-type, alpha 1 subunit;voltage-dependent L-type calcium channel subunit alpha-1D;voltage-gated calcium channel alpha 1 subunit;voltage-gated calcium channel alpha subunit Cav1.3;voltage-gated calcium channel subunit alpha Cav1.3 protein-coding ENSG00000157388 1391 00247 114206;614896 REVIEWED 1605969 CACHD1 cache domain containing 1 1 1 1 p31.3 63227656 63449867 + 64709064 64931329 + 64936476 65158741 + 6480464 14702039;12477932;12421765;10997877;20379614;21139048;22268729 57685 Q5VU97 AB046793;ABBA01074559;ABBA01074560;ABBA01074561;ABBA01074562;AC099678;AK022571;AK024256;AK131297;AK299361;AL355515;AL590405;AL833000;AMYH01000681;AMYH01000682;BC039301;BX537603;CH471059;CX163220;NM_020925 AAH39301;BAB13399;BAB14105;BAB14860;BAG61356;CAD97793;CAH56312;EAX06551;NP_065976;Q5VU97 Hs.443891 1660970;1691146;1698214;1707692;1708870;1718325;1718541;1753641;1769978;1778726;1781386;1781804;2150786;2160108;2180969;5092892;5121549 A009B41;D1S3164;D1S3724;G16067;G32395;G58143;RH102643;RH122934;RH91887;SHGC-106872;SHGC-107550;SHGC-156086;SHGC-74907;SHGC-74939;SHGC-74941;SHGC-82019;SHGC-83932 KIAA1573;RP4-655E10.1 OTTHUMP00000010675;VWFA and cache domain-containing protein 1;cache domain-containing protein 1;von Willebrand factor type A and cache domain containing 1 protein-coding ENSG00000158966 29314 13874 VALIDATED 1322993 CACFD1 calcium channel flower domain containing 1 9 9 9 q34 106875680 106886533 + 135314952 135325706 + 136325087 136335909 + 6480464 16344560;16303743;15489334;15164053;14702039;12975309;12477932;18940312;19737521;21906983 11094 F6TGH8;Q9UGQ2 AA436195;ABBA01032457;AJ011373;AK074852;AK075416;AK075548;AK296343;AK298820;AK304524;AK311325;AL137319;AL593848;AMYH01021804;AMYH01021805;AY358452;BC030558;CH471090;CQ782808;CS051223;CS051397;DA699497;DB165724;NM_001135775;NM_001242369;NM_001242370;NM_017586 AAH30558;AAQ88817;BAC11245;BAC11606;BAC11691;BAH12324;BAH12877;BAH14205;CAB66156;CAF86035;CAI72107;CAI72193;EAW88089;EAW88090;NP_001129247;NP_001229298;NP_001229299;NP_060056;Q9UGQ2 Hs.62003 1673218;2112884;2216988 ADAMTS13_3006;D9S2135;STS-AA040591 C9orf7;D9S2135;FLOWER OTTHUMP00000022493;OTTHUMP00000022494;OTTHUMP00000022495;calcium channel flower domain-containing protein 1;calcium channel flower homolog APPROVED protein-coding ENSG00000160325 1365 12974 613104 VALIDATED 731992 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq, Feb 2012] X X p11.23 48948467 48976777 - 49061523 49089833 - 734671;1580863;6480464;6907045;7240710;7204688 12111638;21746798 17651254;14973233;15897456;17474147;7571473;18206315;17949918;17525176;16960802;16505158;16476079;16382099;16085774;15807819;15772651;15761389;15634789;10873387;9662400;9662399;9344658;8933343;8889549;7633454;15452577;12954628;12860808;12853422;12807962;12719097;12552565;12187427;11281458;10900517;20398921;20801516;22744390;19029287;22936811;21920492;22069316;22194652;8889548;20301423;23219801;22735794 778 F5CIQ9;H7C549;O60840 AA019975;ABBA01046135;ABBA01046136;ABBA01046137;ABBA01046138;ABBA01046139;ABBA01046140;ABBA01046141;AC232271;AF067227;AF196779;AF201304;AF235097;AJ006216;AJ224874;AMYH01022294;BM931932;CH471224;JF701915;NG_009095;NM_001256789;NM_001256790;NM_005183;U93305 AAB92359;AAD03587;AAF15290;AED89557;CAA06916;CAA12175;EAW50677;EAW50678;EAW50679;EAW50680;EAW50681;EAW50682;EAW50683;NP_001243718;NP_001243719;NP_005174;O60840 Hs.632799 1298117;1298195;1338510 D2S1788;D2S405;DXS8060 AIED;COD3;COD4;CORDX;CORDX3;CSNB2;CSNB2A;CSNBX2;Cav1.4;JM8;JMC8;OA2 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2);Cav1.4alpha1;OTTHUMP00000024299;OTTHUMP00000032032;OTTHUMP00000216983;calcium channel, voltage-dependent, alpha 1f subunit;voltage gated calcium channel alpha 1F subunit;voltage-dependent L-type calcium channel subunit alpha-1F;voltage-gated calcium channel subunit alpha Cav1.4 APPROVED protein-coding ENSG00000102001 1393 02119 300071;300110;300476;300600 REVIEWED 1347795 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 9 9 q34 139892062 140136449 + 140772241 141019076 + 1580151;1580863;1626313;1626312;6480464;6907045;7204688 11353727;17567797;16289869;21746798 21166801;15728831;1321501;9030575;8825650;19065143;18958281;17081983;16857708;16627564;16382099;15953418;15607937;15166237;14684825;14602720;12665800;12477932;12435810;12414690;12177192;12161429;12018859;11438518;11395521;11130074;10455105;8750830;8684604;22491326;20379614;20489179;21057379;22590648;21906983;22613715;9238069 774 B1AQK4;B1AQK6;B1AQK7;E9PDR3;F6RH32;H0Y7I8;Q00975;Q5JRE4;Q9HAT3;Q9HAT6;Q9HBH2 AB209467;AF237470;AF238295;AF238296;AF245659;AF245660;AF302780;AF302782;AL591424;AL772363;AMYH01001373;AMYH01021919;AMYH01021920;AMYH01021921;AMYH01021922;AY429522;AY429523;BC033060;CH471090;CS184988;M94172;M94173;NM_000718;NM_001243812;U76666 AAA51897;AAA51898;AAC51138;AAG13642;AAG13643;AAG13644;AAG13645;AAG13646;AAG13647;AAG13648;AAG13650;AAG14396;AAG14397;AAG14398;BAD92704;CAJ41866;EAW88415;EAW88416;EAW88417;EAW88418;NP_000709;NP_001230741;Q00975 Hs.495522 1337682;1647218;1654731;1732015;1743007;1758309;1787046;1795228;1848645;2111021;2164748;5113224 A004Y39;CACNA1B_73;D9S1090;D9S2168;D9S218E;D9S325;GDB:229346;RH69203;RH79907;SHGC-148023;SHGC-153882;SHGC-32482 BIII;CACNL1A5;CACNN;Cav2.2 Cav2.2 voltage-gated Ca2+ channel;OTTHUMP00000022714;OTTHUMP00000022715;OTTHUMP00000022716;OTTHUMP00000022718;brain calcium channel III;calcium channel alpha12.2 subunit;calcium channel, L type, alpha-1 polypeptide;calcium channel, N type;calcium channel, voltage-dependent, alpha 1B subunit, N type;voltage-dependent N-type calcium channel subunit alpha-1B;voltage-gated calcium channel alpha subunit Cav2.2;voltage-gated calcium channel subunit alpha Cav2.2 APPROVED protein-coding ENSG00000148408 1389 03005 601012 REVIEWED 68993 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008] 16 16 p13.3 1143242 1211773 + 1203241 1271772 + 1358447;1580863;6480464;6907045;7240710;7204688 12891677;21746798 10861024;9670923;19641113;19144837;19131331;18708747;18591418;18309285;18230611;18218623;17696120;17215393;17156077;17081983;16973746;16905256;16754686;16565161;16504478;16475676;16443692;16382099;16377633;16303743;16301824;16133267;15852375;15616553;15498803;14729682;14602827;14529577;12853961;12808460;11927664;11799114;11751928;11157797;10414291;9930755;9110174;8619474;14631046;21438841;21099341;15833171;19609347;19903827;19948975;20201926;19336002;22574369;21059758;21084288;20699644;19342457;23111027;21788606;22130660;22469755;22572848;20147652 8912 B3KQH9;H3BMW6;H3BNT0;H3BPX6;H3BUA8;Q9NYY5 ABBA01030324;ABBA01030325;ABBA01030326;ABBA01030327;ABBA01030328;ABBA01030329;AC120498;AE006466;AF051946;AF070604;AF073931;AF223560;AF223561;AF223562;AF223563;AJ420779;AK074965;AL031703;AL031715;AMYH01007021;AMYH01007022;AMYH01007023;AMYH01007024;AMYH01007025;AMYH01007026;AMYH01007027;AMYH01007028;BM554380;CA335096;CD243650;CH471112;DQ363526;DQ363527;DQ363528;DQ363529;NG_012647;NM_001005407;NM_021098 AAC67239;AAD17668;AAF60160;AAF60161;AAF60162;AAF60163;AAK61268;ABC88009;ABC88010;ABC88011;ABC88012;BAG52041;CAC42094;CAD12646;EAW85683;EAW85684;NP_001005407;NP_066921;O95180 Hs.459642 1795460 CACNA1H_1248 CACNA1HB;Cav3.2;ECA6;EIG6;FLJ90484 calcium channel, voltage-dependent, T type, alpha 1Hb subunit;low-voltage-activated calcium channel alpha1 3.2 subunit;low-voltage-activated calcium channel alpha13.2 subunit;voltage dependent t-type calcium channel alpha-1H subunit;voltage-dependent T-type calcium channel subunit alpha-1H;voltage-gated calcium channel alpha subunit Cav3.2;voltage-gated calcium channel alpha subunit CavT.2;voltage-gated calcium channel subunit alpha Cav3.2 APPROVED protein-coding ENSG00000196557 1395 07442 607904;611942 REVIEWED 68989 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] 17 17 q22 45993448 46059541 + 48638429 48704835 + 68747;68748;68746;1580863;2316207;6480464;6907045;7204688 9495342;11073957;10615950;14615287;21746798 19211869;18801335;18663132;18663131;18591418;17591929;17446221;17397049;16713569;16671074;16382099;15774856;15465033;12752779;12676336;12477932;12168954;11927664;10692398;10648811;10574461;10548410;10493502;21438841;20416077;19455149;20435690;22574369;21788606;22469755;22572848;22973059;22973060;23535033 8913 H0YAN0;I3L2W8;Q9Y5T2 AB012043;AB032949;ABBA01041240;ABBA01041241;ABBA01041242;ABBA01041243;AC004590;AC021491;AF029228;AF029229;AF124351;AF126965;AF126966;AF134985;AF134986;AF190860;AF227744;AF227745;AF227746;AF227747;AF227748;AF227749;AF227750;AF227751;AK296513;AMYH01008473;AMYH01008474;AMYH01008475;BC110995;CH471109;DQ494449;DQ494450;DQ494451;DQ494452;DQ494453;DQ494454;DQ494455;DQ494456;DQ494457;DQ494458;DQ494459;DQ494460;DQ494461;DQ494462;DQ494463;DQ494464;DQ494465;DQ494466;DQ494467;DQ494468;DQ494469;DQ494470;DQ494471;DQ494472;DQ494473;DQ494474;DQ494475;DQ494476;DQ494477;DQ494478;DQ494479;FB571393;FB571395;FB571397;FB571399;FB571401;FB571403;FB571405;FB571407;FB571409;FB571411;FB571413;FB571415;FB571417;FB571419;FB571421;NG_032024;NM_001256324;NM_001256325;NM_001256326;NM_001256327;NM_001256328;NM_001256329;NM_001256330;NM_001256331;NM_001256332;NM_001256333;NM_001256334;NM_001256359;NM_001256360;NM_001256361;NM_018896;NM_198376;NM_198377;NM_198378;NM_198379;NM_198380;NM_198382;NM_198383;NM_198384;NM_198385;NM_198386;NM_198387;NM_198388;NM_198396;NR_046054;NR_046055;NR_046056;NR_046057;NR_046058;R43876 AAD12731;AAD12732;AAD29400;AAD29401;AAD34352;AAF19346;AAF19347;AAF35287;AAF37689;AAF37690;AAF37691;AAF37692;AAF37693;AAF37694;AAF37695;AAF37696;AAI10996;ABF69900;ABF69901;ABF69902;ABF69903;ABF69904;ABF69905;ABF69906;ABF69907;ABF69908;ABF69909;ABF69910;ABF69911;ABF69912;ABF69913;ABF69914;ABF69915;ABF69916;ABF69917;ABF69918;ABF69919;ABF69920;ABF69921;ABF69922;ABF69923;ABF69924;ABF69925;ABF69926;ABF69927;ABF69928;ABF69929;ABF69930;BAA36409;BAA86437;BAG59145;CAR95114;CAR95115;CAR95116;CAR95117;CAR95118;CAR95119;CAR95120;CAR95121;CAR95122;CAR95123;CAR95124;CAR95125;CAR95126;CAR95127;CAR95128;EAW94596;EAW94597;EAW94598;EAW94599;EAW94600;EAW94601;NP_001243253;NP_001243254;NP_001243255;NP_001243256;NP_001243257;NP_001243258;NP_001243259;NP_001243260;NP_001243261;NP_001243262;NP_001243263;NP_001243288;NP_001243289;NP_001243290;NP_061496;NP_938190;NP_938191;NP_938192;NP_938193;NP_938194;NP_938196;NP_938197;NP_938198;NP_938199;NP_938200;NP_938201;NP_938202;NP_938406;O43497 Hs.591169 2128157;2169146;5095171;5114024;5491946 CACNA1G-1;CACNA1G-SNP1;D17S747;RH78047;RH93018 Ca(V)T.1;Cav3.1;MGC117234;NBR13 OTTHUMP00000221509;OTTHUMP00000221510;OTTHUMP00000221511;OTTHUMP00000221512;OTTHUMP00000221513;OTTHUMP00000221514;OTTHUMP00000221515;OTTHUMP00000221516;OTTHUMP00000221517;OTTHUMP00000221518;OTTHUMP00000221560;OTTHUMP00000221561;OTTHUMP00000221562;OTTHUMP00000221563;OTTHUMP00000221564;OTTHUMP00000221565;OTTHUMP00000221566;OTTHUMP00000221567;OTTHUMP00000221568;OTTHUMP00000221569;OTTHUMP00000221570;OTTHUMP00000221572;OTTHUMP00000221573;OTTHUMP00000221574;OTTHUMP00000221575;OTTHUMP00000221590;OTTHUMP00000221591;OTTHUMP00000221592;OTTHUMP00000221593;OTTHUMP00000221594;calcium channel, voltage-dependent, T type, alpha-1G subunit;calcium channel, voltage-dependent, alpha 1G subunit;cav3.1c;voltage-dependent T-type calcium channel subunit alpha-1G;voltage-dependent calcium channel alpha 1G subunit, isoform 11;voltage-gated calcium channel subunit alpha Cav3.1 APPROVED protein-coding ENSG00000006283 1394 04961 604065 REVIEWED 10268 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] 12 12 p13.3 2032725 2677376 + 2162416 2807115 + 1580173;1580863;2311105;6480464;6907045;7204688;7240708;7240710 15863612;16868246;21746798;23091085 22012475;18317468;18250309;18174367;17950697;17942635;17916557;17593353;17224476;17173968;17071743;16820363;16648185;16610939;16382099;16319140;16299511;16285952;16157588;16020652;15980432;15980164;15916803;15845581;15749491;15671035;15583004;15454078;15339916;15299022;15141227;15140941;8392192;19095005;11206130;14140941;12130699;19492014;19388002;19279214;19265197;19225208;19205682;19106618;19065143;18927079;18711365;18675806;18618671;18603601;18596041;18536931;18535201;18535142;18359894;14981074;14722109;14702039;12962146;12832067;12593842;12477932;12176756;12166659;12163037;11741969;11576544;11461190;11438518;10022083;9668070;9607315;9247274;9110174;9087614;9013606;8619474;8612821;8099908;7959794;7737988;2173707;1653763;1650913;1335957;1330882;1316612;15170217;15728831;15953418;20351721;21464227;11438519;19215628;19351867;19520970;19620129;19621016;19625771;19687230;19717733;19781653;19952088;20031608;20066046;20098439;20169111;20201926;20226536;20351715;20379614;20424473;8664319;18836301;21042317;21057379;21078228;20636642;20719785;20371314;20953164;21098446;19913121;19916019;20628086;20638048;20677014;20679588;20723887;20817017;20819988;20301577;21134641;20924598;21282112;22957138;21931320;21487241;21292451;21395576;22990809;22464935;21665954;21676128;21767209;21712653;21810465;21926972;19343720;21685391;21788606;22100296;21186355;21998324;22688191;21664226;21519340;22590648;22085483;21352396;21926974;22261054;21521762;20301690;17110593;16483597;21145461;22490625;23222517;23453885;22647524;16338416;22705413 775 E9PDI6;F5GY28;F5H0X0;F5H522;F5H638;Q4VMI9 AB209016;ABBA01048802;ABBA01048803;ABBA01048804;ABBA01048805;ABBA01048806;ABBA01048807;ABBA01048808;ABBA01048809;ABBA01048810;ABBA01048811;ABBA01048812;AC005293;AC005342;AC005344;AC005414;AC005866;AC006051;AC007618;AF070589;AF465484;AJ224873;AJ536834;AJ537510;AK092125;AK302698;AK308652;AK309111;AMYH01004177;AMYH01004178;AMYH01004179;AMYH01004180;AY129012;AY562395;AY562396;AY830711;AY830712;AY830713;BC093695;BC146846;CH471116;L04568;L29529;L29534;L29536;M57971;M57972;M61130;M91370;M92269;NG_008801;NM_000719;NM_001129827;NM_001129829;NM_001129830;NM_001129831;NM_001129832;NM_001129833;NM_001129834;NM_001129835;NM_001129836;NM_001129837;NM_001129838;NM_001129839;NM_001129840;NM_001129841;NM_001129842;NM_001129843;NM_001129844;NM_001129846;NM_001167623;NM_001167624;NM_001167625;NM_199460;Z26257;Z26294;Z26295;Z26308;Z34809;Z34810;Z34811;Z34812;Z34813;Z34814;Z34815;Z34816;Z34817;Z34818;Z34819;Z34820;Z34821;Z34822;Z74996 AAA02500;AAA17030;AAA51899;AAA51900;AAA51901;AAA58409;AAA62832;AAA74590;AAB59461;AAC28649;AAH93695;AAI46847;AAM70049;AAM98755;AAT67986;AAT67987;AAX37354;AAX37355;AAX37356;BAD92253;BAH13781;CAA12174;CAA81218;CAA81219;CAA84340;CAA84341;CAA84342;CAA84343;CAA84344;CAA84345;CAA84346;CAA84347;CAA84348;CAA84349;CAA84350;CAA84351;CAA84352;CAA84353;CAA99284;CAD61168;CAD61169;EAW88895;EAW88896;EAW88897;EAW88898;EAW88899;EAW88900;EAW88901;EAW88902;EAW88903;EAW88904;EAW88905;EAW88906;EAW88907;EAW88908;EAW88909;EAW88910;NP_000710;NP_001123299;NP_001123301;NP_001123302;NP_001123303;NP_001123304;NP_001123305;NP_001123306;NP_001123307;NP_001123308;NP_001123309;NP_001123310;NP_001123311;NP_001123312;NP_001123313;NP_001123314;NP_001123315;NP_001123316;NP_001123318;NP_001161095;NP_001161096;NP_001161097;NP_955630;Q13936 Hs.118262 1334589;1337399;1340038;1341339;1654910;1659697;1661476;1665757;1669620;1671597;1683014;1684056;1693864;1693866;1693868;1693870;1693872;1698220;1705432;1724607;1731847;1734010;1734014;1742899;1748497;1752493;1754557;1759175;1759493;1766823;1770738;1772105;1778617;1852594;2116259;2117757;2118412;2124175;2132832;2132834;2146373;2153856;2154442;2155803;2155978;2156996;2161177;2177027;2177105;5016899;5491314;5493349;7185055;7185413;7187837 A001U36;AF045313;D12S100;D12S1076;D12S1092;D12S1094;D12S1096;D12S1108;D12S1113;D12S1116;D12S1117;D12S1392E;D12S1443;D12S1615;D12S1689;D12S1694;D12S2044;D12S2049;D12S2051;D12S381E;G17659;G19668;G30965;G41239;G42621;G42623;G42624;G42625;G42626;GDB:214834;RH102646;RH121301;RH25054;RH27134;RH44512;RH44799;RH48669;RH78411;RH93423;SHGC-106399;SHGC-132840;SHGC-150871;SHGC-151138;SHGC-152191;SHGC-30605;SHGC-37464;SHGC-57441;SHGC-6998;SHGC-83797;STS-H29303;UniSTS:485794;WI-18742;WI-3910 CACH2;CACN2;CACNL1A1;CCHL1A1;CaV1.2;LQT8;MGC120730;TS DHPR, alpha-1 subunit;OTTHUMP00000196730;OTTHUMP00000196731;OTTHUMP00000196732;OTTHUMP00000196733;OTTHUMP00000196734;OTTHUMP00000196735;OTTHUMP00000196736;OTTHUMP00000196737;OTTHUMP00000196738;OTTHUMP00000196739;OTTHUMP00000196740;OTTHUMP00000196741;OTTHUMP00000196742;OTTHUMP00000196743;OTTHUMP00000196744;OTTHUMP00000196746;OTTHUMP00000196747;OTTHUMP00000196748;OTTHUMP00000196749;OTTHUMP00000196750;OTTHUMP00000196751;OTTHUMP00000238277;OTTHUMP00000238278;OTTHUMP00000238479;calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle;calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle;calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit;calcium channel, voltage-dependent, alpha 1c subunit;voltage-dependent L-type calcium channel subunit alpha-1C;voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*;voltage-gated calcium channel alpha subunit Cav1.2;voltage-gated calcium channel subunit alpha Cav1.2 APPROVED protein-coding 1390 00246 114205;601005;611875 REVIEWED 6770493 CACNA1G-AS1 CACNA1G antisense RNA 1 17 q21.33 48633568 48639469 - 12477932;8889548 253962 ABBA01041240;AC021491;AMYH01008473;BC041476;BU742796;H13333;NG_032024;NR_038439 Hs.558704 2145484 WI-22304 APPROVED miscrna ENSG00000250107 27377 VALIDATED 736857 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] 1 1 q32 199275263 199348317 - 201008640 201081694 - 1300372;1300373;1580863;6480464;6907045;7240710;7204688 7847370;9199552;21746798 9852570;17418573;11206130;17204937;19191329;19187971;19118277;18229654;17587224;16382099;15726306;15716625;15711422;15072700;14660679;12636044;12496092;9668070;9175745;8838325;8592342;8188298;8118099;8004673;7987325;7916735;7897626;7713519;3037387;2844809;1322891;22140091;12477932;19134469;19779499;19825159;20379614;20424473;20301512;20861472;21248738;22863883;20618440;21931568;21841462;21262876;21774221;20301325;21855088;21845430;22927026 779 B1ALM3;Q13698 ABBA01027535;ABBA01027536;ABBA01027537;AL139159;AL358473;AMYH01001640;BC133671;CH471067;L33798;NG_009816;NM_000069;U09784;U14413;U18986;U30707 AAA20531;AAA51902;AAB37235;AAC50397;AAC50398;AAI33672;EAW91333;EAW91334;EAW91335;NP_000060;Q13698 Hs.1294 1692468;1742327;1743783;1765531;1797342;2116210;2131635;2154837;2157615;2182480;5491870 AL033885;CACNA1S;CACNA1S_2396;D1S3520;G09493;GDB:196341;GDB:373596;RH71040;SHGC-149005;SHGC-76114;SHGC-76141 CACNL1A3;CCHL1A3;Cav1.1;HOKPP;HOKPP1;MHS5;TTPP1;hypoPP OTTHUMP00000033931;OTTHUMP00000033932;calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis);calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle;dihydropyridine receptor;dihydropyridine-sensitive L-type calcium channel alpha-1 subunit;voltage-dependent L-type calcium channel subunit alpha-1S;voltage-gated calcium channel subunit alpha Cav1.1 APPROVED protein-coding ENSG00000081248 1397 00248 114208;170400;188580;601887 REVIEWED 733702 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 1 1 q25.3 179719339 180037339 + 181452686 181775920 + 1299845;734670;1580863;6480464;6907045;7204688 8388125;11735114;21746798 8071363;8825650;18676988;18037383;17934712;17727731;17720895;17660294;17189400;17050807;16855219;16382099;15845089;15258581;14702039;12706458;12401453;12202369;11903132;11719851;11179973;11159396;9799129;9776767;9753159;9656471;8358434;7536609;9238069;16543726;20379614;20424473;20026913;12477932;15342556;21482359;22633975;21691059;22178872;21906983;22427875;23382691;22846999 777 E9PIE8;F8W760;F8W8A2;F8W9Z1;J3KP11;Q15878;Q59FG1 AA349993;AB209499;ABBA01027775;ABBA01027776;ABBA01027777;ABBA01027778;AF152379;AF223391;AJ276502;AK096563;AK309070;AL160059;AL161734;AL356500;AL359270;AL590998;AMYH01001545;AMYH01001546;AMYH01001547;AW452628;BC037800;BE504178;BI914369;BP230397;CD580303;CH471067;L27745;L29384;L29385;NM_000721;NM_001205293;NM_001205294;R11722 AAA59204;AAA59205;AAA72125;AAD38389;AAF37687;AAF37688;AAI72376;BAD92736;CAB81554;EAW91103;EAW91104;EAW91105;EAW91106;EAW91107;EAW91108;EAW91109;EAW91110;NP_000712;NP_001192222;NP_001192223;Q15878 Hs.437444 1683785;1694742;1713093;1728929;1778212;1781674;1846801;2142988;2150288;2158257;2168216 Cacna1e;G19134;G43571;HSC1IC052;RH120334;RH71450;RH80638;SHGC-154997;SHGC-75979;SHGC-76011;SHGC-76012 BII;CACH6;CACNL1A6;Cav2.3 OTTHUMP00000035416;OTTHUMP00000035417;OTTHUMP00000035418;OTTHUMP00000235985;brain calcium channel II;calcium channel, L type, alpha-1 polypeptide, isoform 6;calcium channel, R type, alpha-1 polypeptide, isoform 6;calcium channel, voltage-dependent, alpha 1E subunit;calcium channel, voltage-dependent, l type, alpha 1e subunit;voltage-dependent R-type calcium channel subunit alpha-1E;voltage-dependent calcium channel alpha 1E subunit;voltage-gated calcium channel alpha 1E subunit;voltage-gated calcium channel alpha subunit Cav2.3;voltage-gated calcium channel subunit alpha Cav2.3 APPROVED protein-coding ENSG00000198216 1392 03006 601013 REVIEWED 68996 CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 22 22 q13.1 38296704 38415686 + 39966758 40085740 + 1580863;6480464;6907045;7204688 21746798 16740636;10454147;18591418;17535809;16939858;16382099;15254077;12477932;12080115;11927664;10749850;10591208;10574461;22883433;15174051;23382691 8911 A8MPS3;F8WDE5;Q9NZC8 AB032946;ABBA01055578;ABBA01055579;ABBA01055580;ABBA01055581;ABBA01055582;ABBA01055583;AF129133;AF142567;AF211189;AF393329;AL008716;AL022312;AL022319;AMYH01012780;AMYH01012781;BC042972;CH471095;N52765;NM_001003406;NM_021096 AAD45251;AAF25722;AAF44626;AAM67414;BAA86434;EAW60345;EAW60346;EAW60347;EAW60348;EAW60349;EAW60350;EAW60351;NP_001003406;NP_066919;Q9P0X4 Hs.125116 1684445;1711494;1733238;1747503;1747505;2148448;2149341;5021978 D22S578;D22S645;G10206;G49248;G65375;G65376;RH75338;contig_249751 Cav3.3;KIAA1120;ca(v)3.3 OTTHUMP00000199122;OTTHUMP00000199123;OTTHUMP00000199124;OTTHUMP00000199125;ca(v)3.3;calcium channel, voltage-dependent, alpha 1I subunit;voltage-dependent T-type calcium channel subunit alpha-1I;voltage-gated calcium channel subunit alpha Cav3.3 APPROVED protein-coding ENSG00000100346 1396 10500 608230 REVIEWED 6481194 CACNA2D3-AS1 CACNA2D3 antisense RNA 1 3 54908632 54935282 - 14702039 100874237 ABBA01024460;ABBA01024461;AC109584;AK092143;AMYH01013199;NR_046666 Hs.570583 FLJ34824 APPROVED miscrna ENSG00000243715 40702 PREDICTED 731942 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 7 7 q21-q22 81417354 81910967 - 81579418 82073031 - 1580863;6480464;6907045 11160515;19240061;19106618;19001023;17438119;17224476;16335952;14602720;12853948;12477932;10534405;9847074;8188232;8107964;7951247;2458626;1309651;20889312;20379614;20708005;20817017;20579869;21464332;20360068;21383000;22939629;23006423;23251661 781 B7Z658;E7ERK3;H0Y715;P54289 AACC02000015;ABBA01058068;ABBA01058069;ABBA01058070;ABBA01058071;ABBA01058072;ABBA01058073;ABBA01058074;ABBA01058075;ABBA01058076;ABBA01058077;AC004892;AC004970;AC004989;AC005159;AC006145;AC008283;AF083854;AK299838;AL707206;AMYH01017648;AMYH01017649;AMYH01017650;BC051339;BC117468;BC117470;BG055272;BI545104;BU501177;CH236949;CH471091;M76559;NG_009358;NM_000722;Z28599 AAA51903;AAC78619;AAD20938;AAD51454;AAF03259;AAF19234;AAI17469;AAI17471;BAH13144;EAW76990;NP_000713;P54289 Hs.282151 1341053;1648249;1673622;1696796;1696808;1708108;1713441;1720267;1750365;1752897;2106967;2116140;2139677;2140878;2146283;2172465 CACNA2D1__2648;CACNL2A;D7S1435;D7S1507;D7S1996;G49141;G49147;GDB:1318495;RH119578;RH123882;RH17738;SHGC-106835;SHGC-112539;SHGC-81452;UD2;WI-7124 CACNA2;CACNL2A;CCHL2A OTTHUMP00000161364;calcium channel, L type, alpha 2 polypeptide;calcium channel, voltage-dependent, alpha2/delta subunit 1;dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit;voltage-dependent calcium channel subunit alpha-2/delta-1;voltage-gated calcium channel subunit alpha-2/delta-1 APPROVED protein-coding ENSG00000153956 1399 00245 114204 REVIEWED 1349571 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 54123406 55075102 + 54131733 55083624 + 54156693 55108584 + 1580863;6480464;6907045 22542470;19240061;18588891;18519826;17937436;12477932;20889312;12181424;11329013;11245980;10737800;21074052;20379614;22395973;22644305 55799 B4DSF6;C9JAV5;F8WAV4;Q8IZS8 ABBA01024457;ABBA01024458;ABBA01024459;ABBA01024460;ABBA01024461;ABBA01024462;ABBA01024463;ABBA01024464;ABBA01024465;ABBA01024466;AC092057;AC092797;AC104298;AC109581;AC109584;AC115282;AC133010;AC137673;AC138059;AF516696;AJ272213;AJ272268;AK299718;AK307449;AMYH01013197;AMYH01013198;AMYH01013199;AMYH01013200;AW905454;BC137502;BC137505;BE702896;BE768691;BG206136;BG213431;BI753834;CH471055;NM_018398 AAI37503;AAI37506;AAN06673;BAG61618;CAB75878;CAB75962;EAW65303;EAW65304;NP_060868;Q8IZS8 Hs.656687 1336638;1337433;1340199;1340468;1340768;1340899;1341411;1650001;1664899;1670484;1672915;1677446;1699166;1701028;1706170;1716035;1718179;1718327;1723219;1729978;1730081;1731299;1731855;1751447;1751809;1752059;1759701;1759723;1762931;1763441;1766515;1784588;1784594;1784782;1784818;2110465;2120416;2124649;2131348;2143540;2159403;2160142;2185520;5093292;7185554;7187578 A009K48;AFMA048XB9;D3S1236;D3S1241;D3S1289;D3S1447;D3S1582;D3S1613;D3S2567E;D3S3080;D3S3660;D3S3666;D3S3672;D3S4050;D3S4145;D3S717;G16563;G32633;HT017__7511;RH103162;RH104141;RH120956;RH122293;RH122858;RH122935;RH26835;RH65515;RH78885;SHGC-105280;SHGC-105801;SHGC-106008;SHGC-111457;SHGC-111488;SHGC-146684;SHGC-147153;SHGC-149832;SHGC-150991;SHGC-150992;SHGC-155025;SHGC-155305;SHGC-77015;SHGC-80609;STS-AA101173;WI-21592 HSA272268 OTTHUMP00000213118;OTTHUMP00000213119;calcium channel alpha2-delta3 subunit;calcium channel, voltage-dependent, alpha 2/delta 3 subunit;voltage-dependent calcium channel subunit alpha-2/delta-3;voltage-gated calcium channel subunit alpha-2/delta-3 APPROVED protein-coding ENSG00000157445 15460 05907 606399 REVIEWED 737609 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 3 3 p21.3 50375234 50515896 - 50400230 50540892 - 1580863;6480464;6907045 17135419;15331424;12555074;11851383;11292331;11085536;10766861;10762351;9628581;21809394;12477932;16344560;21906983;23402298 9254 C9JE82;C9JGM2;C9JHE6;C9JVC9;Q9NY47 AB011130;ABBA01024546;ABBA01024547;ABBA01024548;ABBA01024549;AF040709;AF042792;AF042793;AJ251367;AJ251368;AK074820;AK310138;AL450422;AMYH01013171;AMYH01013172;AMYH01013173;AMYH01013174;AW451435;AW952467;BC152438;CH471055;DA760583;NM_001005505;NM_001174051;NM_006030;Z75742;Z75743;Z84492;Z84494;Z84495 AAB96913;AAB96914;AAC70914;AAI52439;BAA25484;CAB86192;CAB86193;EAW65118;EAW65119;EAW65120;EAW65121;NP_001005505;NP_001167522;NP_006021;Q9NY47 Hs.476273;Hs.674666 1338000;1682792;1793458;1793460;1793462;1793464;1793466;1793500;1793502;1795462;2174251;2179573;7185404 A006W17;CACNA2D2_1675;D3S1568;PMC22669P10;PMC22669P11;PMC22669P12;PMC22669P13;PMC22669P14;PMC22669P8;PMC22669P9;RH47509;RH80071 CACNA2D;KIAA0558;LUAC11.1 OTTHUMP00000210930;OTTHUMP00000210931;OTTHUMP00000210932;OTTHUMP00000210933;OTTHUMP00000212538;OTTHUMP00000212539;alpha 2 delta calcium channel subunit;calcium channel, voltage dependent, alpha2/delta subunit 2;gene 26;voltage-dependent calcium channel subunit alpha-2/delta-2;voltage-gated calcium channel subunit alpha-2/delta-2 APPROVED protein-coding ENSG00000007402 1400 06154 607082 REVIEWED 1346782 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 12 p13.33 3508846 3635489 - 1771384 1898131 - 1901123 2027870 - 1580863;6480464;6907045;7240710 17033974;12477932;12181424;20379614;22488967 93589 B4DVU4;E7EUE0;K7EIY9;K7EJY1;K7ER25;K7ER98;Q7Z3S7 AA001411;ABBA01048814;ABBA01048815;ABBA01048816;ABBA01048817;AC005342;AC005343;AF516695;AI160471;AK301234;AL137658;AMYH01004176;BC048288;BC150186;BI908421;BX457018;BX537436;BX537437;CA443847;CH471116;NG_012663;NM_172364 AAH48288;AAI50187;AAN06672;ACE86813;ACE87500;BAG62806;CAD97678;CAD97679;EAW88918;EAW88919;EAW88920;NP_758952;Q7Z3S7 Hs.13768 1693860;1756447;2120191;2175247;2181730;2217096 CACNA2D4_497;G09509;G42619;RH11342;SHGC-143451;SHGC-53029 RCD4 OTTHUMP00000237961;OTTHUMP00000237964;voltage-dependent calcium channel subunit alpha-2/delta-4;voltage-gated calcium channel alpha(2)delta-4 subunit;voltage-gated calcium channel subunit alpha-2/delta-4 APPROVED protein-coding ENSG00000151062 20202 12182 608171;610478 REVIEWED 68552 CACNB1 calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 q21-q22 34583235 34607427 - 37329709 37353956 - 734675;1580863;6480464;6907045;7204688 8395940;21746798 1385409;17081983;16713569;14762176;14760703;14623965;12477932;10624822;10465427;10066897;8943043;8905728;8381767;7916667;1657644;1370480;1309651;19821165;21098446;15342556;21832049;19953087;21906983;23382691 782 Q02641 AA694045;AB054985;AB209176;ABBA01031881;ABBA01031882;ABBA01031883;AC004408;AK127283;AK289729;AK297643;AK300666;AK312385;AMYH01008374;AY393857;BC037311;BP217857;CH471152;L06110;L06111;L06112;M76560;M92301;M92302;M92303;NM_000723;NM_199247;NM_199248;U86960;Z21725;Z21726 AAA35631;AAA35632;AAA35633;AAA36167;AAA36168;AAA36169;AAA51894;AAB58779;AAB58780;AAB58781;AAH37311;AAQ97605;ABM82614;ABW03409;BAB21444;BAD92413;BAF82418;BAG54473;BAH12640;BAH13323;CAA79824;CAA79825;EAW60556;EAW60557;EAW60558;EAW60559;EAW60560;EAW60561;EAW60562;EAW60563;EAW60564;NP_000714;NP_954855;NP_954856;Q02641 Hs.635 1739465;1777354;2117361;2157438;5017975;5018097 CACNB1;D17S1655;G73122;RH12690;RH71354;WI-7808 CAB1;CACNLB1;CCHLB1;MGC41896 OTTHUMP00000164286;OTTHUMP00000164287;calcium channel voltage-dependent subunit beta 1;calcium channel, L type, beta 1 polypeptide;dihydropyridine-sensitive L-type, calcium channel beta-1 subunit;voltage-dependent L-type calcium channel subunit beta-1 APPROVED protein-coding ENSG00000067191 1401 11743 114207 REVIEWED 732576 CACNB2 calcium channel, voltage-dependent, beta 2 subunit This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013] 10 10 p12 18469612 18870694 + 18429606 18830688 + 734673;6480464;6907045;7240710;7204688;7240708 9254841;21746798;23091085 8494331;9594024;19430479;19241460;19106618;18676988;18519826;18464913;17224476;16344560;15339916;14762176;14702039;14623965;12719232;12042350;10623591;10567342;10465427;10441130;10066897;9757060;9461395;9252229;8889549;8395157;8107964;1309651;12477932;16385451;17525370;19197348;19358333;20201926;20379614;20386566;20414254;20479155;20025708;20677014;20817017;21045733;21156931;21963141;22090166;21909110;21909115;20301690;23251661;23319000;23453885 783 A6PVM6;AAB27916;Q59H42;Q5QJ99;Q5VVH1;Q6TME3;Q9Y341 AB208917;ABBA01034537;ABBA01034538;ABBA01034539;ABBA01034540;ABBA01034541;ABBA01034542;AF137376;AF137377;AF285239;AF423189;AF423190;AF423191;AF423192;AF465485;AK021994;AK022426;AK128769;AK293837;AK293937;AK295113;AK296471;AK299873;AK307526;AK307800;AK310943;AK311694;AL119895;AL139814;AL162054;AL353603;AL360231;AL390783;AL450364;AL450384;AL599294;AL600557;AMYH01002154;AY027898;AY393858;AY393859;AY393860;AY393861;AY393862;AY393863;AY675091;AY675092;BC136409;BM312516;CH471072;DB235418;DC307859;DC352526;NG_016195;NM_000724;NM_001167945;NM_201570;NM_201571;NM_201572;NM_201590;NM_201593;NM_201596;NM_201597;S60415;U95019 AAB27916;AAB51370;AAB53332;AAD33729;AAD33730;AAG01473;AAI36410;AAK16994;AAL16948;AAL16949;AAL16950;AAL16951;AAL73495;AAQ97606;AAQ97607;AAQ97608;AAQ97609;AAQ97610;AAQ97611;AAV49501;AAV49502;BAD92154;BAH11608;BAH11631;BAH11979;BAH12366;BAH13158;EAW86193;EAW86194;EAW86195;EAW86196;EAW86197;NP_000715;NP_001161417;NP_963864;NP_963865;NP_963866;NP_963884;NP_963887;NP_963890;NP_963891;Q08289 Hs.59093 1339504;1650522;1656293;1668547;1700486;1709914;1713267;1740853;1768487;1782030;1782092;2123681;2155677;2166623;2174633;5016851;5017266;5020948;5109281;7184452;7187966 A008O21;D10S2318;D10S2356;D10S548;D1S1425;G15938;G35510;L18506;RH103864;RH120624;RH17936;RH44603;RH80031;SHGC-149805;SHGC-154459;SHGC-30313;SHGC-35043;SHGC-84814;STS-S60415 CACNLB2;CAVB2;FLJ23743;MYSB CAB2;OTTHUMP00000019254;OTTHUMP00000019255;OTTHUMP00000019256;OTTHUMP00000019257;OTTHUMP00000019258;OTTHUMP00000196783;OTTHUMP00000196784;OTTHUMP00000196786;calcium channel voltage-dependent subunit beta 2;lambert-Eaton myasthenic syndrome antigen B;myasthenic (Lambert-Eaton) syndrome antigen B;voltage-dependent L-type calcium channel subunit beta-2 APPROVED protein-coding ENSG00000165995 1402 02473 600003;611876 REVIEWED 735859 CACNB3 calcium channel, voltage-dependent, beta 3 subunit This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011] 12 12 q13 47498779 47508991 + 49208215 49222726 + 1580863;6480464;6907045;7204688 21746798 11160515;8825650;16525042;15489334;15170217;14702039;12477932;12181424;8621722;8617257;8494331;8119293;7557998;19807924;19917615;15028279;16344560;21926972 784 F8VNV8;F8VU10;F8VUW8;F8VV14;F8VWK1;F8W0F8;F8W1N3;H0YHK1;H0YHY2;Q13913 ABBA01031488;AC117498;AK122911;AK289709;AK297639;AK300901;AK304537;AK316323;AL534844;AL537072;AL702978;AMYH01004435;BC041811;BI667991;CD013906;CH471111;D43704;DB277524;L27584;NG_030048;NM_000725;NM_001206915;NM_001206916;NM_001206917;U07139;X76555;X76556 AAA19799;AAA95958;AAH41811;BAA07803;BAF82398;BAH12637;BAH13371;BAH14209;BAH14694;CAA54055;CAA54056;EAW58008;EAW58009;NP_000716;NP_001193844;NP_001193845;NP_001193846;P54284 Hs.250712;Hs.737291 1770419;1770648;1795464;2146421;5492080 CACNB3_499;D12S2032;IB1472;MARC_42832-42833:1097693526:1;WI-18779 CAB3;CACNLB3;FLJ58949 CAB3;OTTHUMP00000243673;OTTHUMP00000243674;OTTHUMP00000243678;OTTHUMP00000243679;OTTHUMP00000243681;calcium channel voltage-dependent subunit beta 3;voltage-dependent L-type calcium channel subunit beta-3 APPROVED protein-coding ENSG00000167535 1403 11879 601958 REVIEWED 68558 CACNB4 calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 q22-q23 152402382 152663790 - 152689285 152955593 - 734674;1580863;6480464;6907045;7240710;7204688 10762541;21746798 16525042;11880487;8825650;16385006;18755274;18712068;18446307;17618603;16866717;16344560;15489334;15342556;15170217;14623965;12477932;10212211;9757060;9628818;9530629;9442082;9254841;9254840;9252229;16169070;19807924;20200978;21297076;21220418;22892567 785 C9J224;E7EN11;F8WA06;H0Y476;O00305 AB302276;ABBA01004782;ABBA01004783;ABBA01004784;ABBA01004785;ABBA01004786;AC068547;AC079790;AC097448;AF038852;AF075047;AF216867;AK290049;AK291378;AK294398;AK316045;AL700210;AMYH01011178;AMYH01011179;AY054985;BC075049;BP229182;BP360802;BX279713;BX484858;BX648679;CH471058;DA782833;HQ214056;NG_012641;NM_000726;NM_001005746;NM_001005747;NM_001145798;T23939;U95020 AAB53333;AAC24206;AAF61674;AAH75049;AAL14351;AAX82014;AAY14711;AAY14759;ADP09414;BAF73808;BAF82738;BAF84067;BAG57651;BAH14416;EAX11493;EAX11494;NP_000717;NP_001005746;NP_001005747;NP_001139270;O00305 Hs.120725 1339368;1707734;1734974;1756393;1765687;1774475;1779190;1784234;1784238;1854083;2217098 CACNB4_2927;D2S1720E;D2S1751;D2S2236;SHGC-143363;SHGC-149129;SHGC-152741;SHGC-156047;SHGC-156071;SHGC-82083;WI-15038 CAB4;CACNLB4;EA5;EIG9;EJM;EJM4;EJM6 OTTHUMP00000207228;OTTHUMP00000207246;OTTHUMP00000207247;OTTHUMP00000207248;OTTHUMP00000207249;OTTHUMP00000209460;calcium channel voltage-dependent subunit beta 4;dihydropyridine-sensitive L-type, calcium channel beta-4 subunit;voltage-dependent L-type calcium channel subunit beta-4 APPROVED protein-coding ENSG00000182389 1404 09057 601949;607682;613855 REVIEWED 732630 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010] 17 17 17 q24 61613382 61625583 + 62471168 62483375 + 65040652 65052913 + 734675;1580863;6480464;6907045 8395940 8387489;15489334;12477932;11738816;11170751;10613843;8404045;16344560;17652770;8111396;9186513 786 Q06432 ABBA01029014;AC005544;AF086300;AK313852;AMYH01008583;BC069493;BC113486;BC113492;CH471099;DA898357;L07738;NM_000727;Z19587;Z19603 AAA51904;AAH69493;AAI13487;AAI13493;ADR83392;BAG36580;CAA79671;CAB62573;EAW89022;NP_000718;Q06432 Hs.147989 1743011;1743027;1797344;2155864;2163205 CACNG1__2503;GDB:235907;GDB:250204;RH17604;SHGC-12505 CACNLG L-type calcium channel gamma polypeptide;dihydropyridine-sensitive L-type skeletal muscle calcium channel gamma subunit;dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma;neuronal dihydropyridine-sensitive calcium channel gamma subunit;voltage-dependent calcium channel gamma-1 subunit APPROVED protein-coding ENSG00000108878 1405 00249 114209 REVIEWED 731676 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] 22 22 q13.1 35290050 35428849 - 36956916 37098690 - 1580863;6480464;6907045;7240704 22334212 10221464;19543281;19156168;18571626;18408563;17483093;16793768;16637659;15758178;15567474;15489334;15461802;15001777;14505496;12477932;12359873;11805122;11170751;11140673;10643919;10591208;18311135;19805317;20688780;14702039;16434481;17652770;18304745;20219255;21832049;23166629 10369 Q9Y698 ABBA01055449;ABBA01055450;AF096322;AK123431;AL022313;AL031845;AL049749;AMYH01012753;BC069612;BC112297;BC112299;BE670632;BI919073;CH471095;CR456414;NG_031861;NM_006078;Z70289 AAD22738;AAH69612;AAI12298;AAI12300;ADR82940;CAG30300;CAK54405;CAK54704;EAW60113;NP_006069;Q9Y698 Hs.146766 1340423;1694958;1733236;2140951;2152426;2184624;7183698;7187005 D22S1258;D22S426;D22S573;D22S619;D6S1611;G44389;RH45498 FLJ41437;MGC138502;MGC138504;MRD10 OTTHUMP00000028790;TARP gamma-2;neuronal voltage-gated calcium channel gamma-2 subunit;stargazin;transmembrane AMPAR regulatory protein gamma-2;voltage-dependent calcium channel gamma-2 subunit APPROVED protein-coding 1406 04220 602911;614256 REVIEWED 736548 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010] 16 16 16 p12.1 23044814 23151626 + 24174377 24281238 + 24266874 24373737 + 1300374;1580863;6480464;6907045 10613843 10221464;17264864;15489334;14702039;14505496;12477932;11170751;10493829;21169531;17207965;17652770;18304745;20219255;14572453;21832049 10368 O60359 ABBA01017085;ABBA01017086;ABBA01017087;AC004125;AF100346;AF114832;AF134640;AK055453;AK095553;AK315150;AMYH01007390;BC033741;BC037899;BC040005;CH471145;H04803;NM_006539 AAC15246;AAD22739;AAF42975;AAH37899;AAH40005;AAP97231;ADQ32452;BAG37598;BAG51520;BAG53082;EAW55793;EAW55794;NP_006530;O60359 Hs.7235 1334547;1664447;1756945;1790219;2218744 CACNG3_4051;D16S672;SHGC-144113;SHGC-60568;URB036 Cacng2 OTTHUMP00000162423;TARP gamma-3;neuronal voltage-gated calcium channel gamma-3 subunit;transmembrane AMPAR regulatory protein gamma-3;voltage-dependent calcium channel gamma-3 subunit;voltage-gated calcium channel gamma subunit APPROVED protein-coding ENSG00000006116 1407 05910 606403 REVIEWED 735495 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 17 17 17 q24 61533692 61602193 + 62391475 62459980 + 64960980 65029518 + 1300374;1580863;6480464;6907045 10613843 15489334;14702039;14505496;12477932;11738816;11170751;19913121;20628086;17652770;18304745;20378664;22779921 27092 Q8TCR4;Q9UBN1 ABBA01029014;AC005544;AC005988;AF142622;AF142623;AF142624;AF142625;AF162692;AK055232;AK315149;AL526464;AL713655;AL831834;AMYH01008583;BC004504;BC032765;BC034532;BF508806;CH471099;NM_014405 AAF03090;AAF14538;AAH34532;ABM82741;ABM85926;BAG37597;CAD28464;EAW89020;EAW89021;NP_055220;Q9UBN1 Hs.514423 1678553;1707640;1795466;1854946;2144924;2180688 CACNG4_503;D20S801;G17986;RH93006;SHGC-17632;SHGC-81981 MGC11138;MGC24983 TARP gamma-4;neuronal voltage-gated calcium channel gamma-4 subunit;transmembrane AMPAR regulatory protein gamma-4;voltage-dependent calcium channel gamma-4 subunit APPROVED protein-coding ENSG00000075461 1408 05911 606404 REVIEWED 1347642 CACTIN-AS1 CACTIN antisense RNA 1 19 19 19 p13.3 3547476 3553529 + 3561626 3563908 + 3607245 3613928 + 14702039;23251661 404665 Q8N1I8 ABBA01002835;AC005175;AK097999;AMYH01009314;AMYH01009315;NR_038865 Q8N1I8 Hs.719726 2132848;2132850 A005X06;G20563 C19orf29-AS1;C19orf29OS APPROVED miscrna ENSG00000226800 31391 VALIDATED 732322 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51505965 51525810 + 59158106 59177951 + 54466290 54493469 + 1580863;6480464;6907045 11170751;11738816;14702039;17652770;18304745;18311135 59283 Q8WXS5 ABBA01068181;ABBA01068182;AC008440;AF234892;AF288388;AF361354;AK055160;AK131287;AMYH01009973;AMYH01009974;AMYH01009975;CH471135;NM_031895 AAI57120;AAI72268;AAK15019;AAK20031;AAL50049;EAW72168;NP_114101;Q8WXS5 Hs.631595 1336954;1800612;1801818;1808172;1812292;1814682;1818574;1825130;1832070;1833750;1836230;1837400;1837604;1838530;1838746;1843590;1843644;1843912;1844586;2103390;2103392;2103394;2103396;2103398;2103400;2103402;2103404;2103406;2103408;2103410;2103412;2103414;2103416;2131215;5015881;5016596;5016851;5022578;5037552;5037554;5117897 D1S1423;D6S1576;D8S2279;D8S2282;ECD01167;ECD01790;ECD05067;ECD07153;ECD08371;ECD10349;ECD13666;ECD17173;ECD18020;ECD19276;ECD19867;ECD19969;ECD20439;ECD20551;ECD23005;ECD23033;ECD23167;ECD23507;GDB:335751;GDB:631802;GDB:631813;RH80031;WI-22592;stSG605682;stSG605683;stSG605684;stSG605685;stSG605686;stSG605687;stSG605688;stSG605689;stSG605690;stSG605691;stSG605695;stSG605696;stSG605697;stSG605698 FLJ16240;FLJ30598 OTTHUMP00000067377;TARP gamma-8;neuronal voltage-gated calcium channel gamma-8 subunit;transmembrane AMPAR regulatory protein gamma-8;voltage-dependent calcium channel gamma-8 subunit APPROVED protein-coding ENSG00000142408 13628 06063 606900 REVIEWED 7241100 CACYBPP1 calcyclin binding protein pseudogene 1 10 86214445 86215808 - 100420043 ABBA01003755;AC074321;AMYH01002892;NG_025452 pseudo 45122 INFERRED 7240978 CACYBPP2 calcyclin binding protein pseudogene 2 22118674 644877 ABBA01062316;AC074182;AMYH01011320;NG_021541 1667408 SHGC-64074 pseudo 45123 INFERRED 734378 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010] 17 17 17 q24 61446119 61454026 + 62303913 62311819 + 64873391 64881395 + 1300374;1580863;6480464;6907045 10613843 15489334;12477932;11927536;11738816;11170751;17652770;21057379 27091 Q9UF02 ABBA01029020;AC005988;AF142618;AF142619;AF142620;AF142621;AF148220;AF361351;AF458898;AK290171;AMYH01008582;BC101607;BC101633;CH471099;NM_145811 AAF00132;AAF03089;AAI01608;AAI01634;AAL50046;AAM00595;BAF82860;EAW89018;EAW89019;NP_665810;Q9UF02 Hs.278907 1797346 CACNG5_3025 MGC126656;MGC126682 OTTHUMP00000232948;TARP gamma-5;neuronal voltage-gated calcium channel gamma-5 subunit;transmembrane AMPAR regulatory protein gamma-5;voltage-dependent calcium channel gamma-5 subunit APPROVED protein-coding ENSG00000075429 1409 05912 606405 REVIEWED 1317719 CACUL1 CDK2-associated, cullin domain 1 10 10 10 q26.11 114171140 114245410 - 120430484 120504748 - 120440494 120514758 - 737633 12477932 15489334;15164054;14702039;19829063;22415352;19471022;21139048;22982681;23178685;23000965;22903020 143384 B4DVQ4;Q86Y37 ABBA01062929;ABBA01062930;ABBA01062931;AJ544771;AK026985;AK057742;AK097728;AK131008;AK301182;AL139407;AL157388;AMYH01003107;AY743663;BC038294;BG772719;BU623607;CH471066;NM_153810 AAH38294;AAU89709;BAC05153;BAG62766;CAD67614;EAW49411;EAW49412;NP_722517;Q86Y37 Hs.420024 1644307;1673949;1740015;1856142;2169309;2183695;5019741;5022322;5024039 A009N08;D10S1627;D11S2560;D16S325;G06209;G32677;RH69427;WI-16905;WI-17887 C10orf46;CAC1;FLJ40409;MGC33215 CDK2-associated and cullin domain-containing protein 1;Cdk-Associated Cullin1;OTTHUMP00000020585;OTTHUMP00000020586;chromosome 10 open reading frame 46;cullin;uncharacterized protein C10orf46 APPROVED protein-coding ENSG00000151893 23727 12576 VALIDATED 735845 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51535226 51555565 + 59187354 59207732 + 54495542 54515920 + 1580863;6480464;6907045 11170751;15489334;12477932;11738816;20860846;17652770 59285 A6NFR2;A6NP74;Q9BXT2 ABBA01068180;ABBA01068181;AC008440;AF288386;AF361352;AMYH01009976;BC021552;BX281606;CH471135;NM_031897;NM_145814;NM_145815;NR_102308 AAH21552;AAK20029;AAL50047;ABM86136;ABW03468;ABW03776;EAW72170;EAW72171;EAW72172;NP_114103;NP_665813;NP_665814;Q9BXT2 Hs.631560 1798376;1798994;1799526;1802540;1821264;1826504;1827886;1836230;1837454;1837604;1840656;1842650;1843096;2103418;2103420;2103422;2103424;2103426;2103428;2103430;2103432;2103434;2103436;2103438;2103440;2131215 ECD00024;ECD00342;ECD00615;ECD02156;ECD11712;ECD14366;ECD15066;ECD19276;ECD19894;ECD19969;ECD21518;ECD22532;ECD22756;WI-22592;stSG605702;stSG605703;stSG605704;stSG605705;stSG605706;stSG605707;stSG605708;stSG605710;stSG605712;stSG605713;stSG605715;stSG605716 OTTHUMP00000067375;OTTHUMP00000067376;neuronal voltage-gated calcium channel gamma-6 subunit;voltage-dependent calcium channel gamma-6 subunit APPROVED protein-coding ENSG00000130433 13625 06061 606898 REVIEWED 6481315 CADM2-AS1 CADM2 antisense RNA 1 100874038 AC107024 APPROVED miscrna 41248 6481314 CADM2-AS2 CADM2 antisense RNA 2 3 85849137 85877200 - 11329013;22832960 100874037 ABBA01031084;AC117452;AMYH01013322;BG200721;NR_046752 Hs.570566 APPROVED miscrna ENSG00000241648 41247 PREDICTED 732586 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010] 19 19 19 q13.4 51457105 51485939 + 59107883 59138080 + 54415991 54446969 + 6480464;6907045 11170751;15489334;12477932;11927536;11738816;17652770 59284 P62955 ABBA01068183;ABBA01068184;ABBA01068185;AC008440;AF288387;AF361353;AF458897;AL537399;AMYH01009970;AMYH01009971;BC069332;BC093869;BC113503;CH471135;NM_031896 AAH69332;AAH93869;AAI13504;AAK20030;AAL50048;AAM00594;ADR83128;EAW72162;EAW72163;EAW72164;EAW72165;EAW72166;NP_114102;P62955 Hs.631597 1798642;1798716;1814262;1819996;1823936;1830794;1832628;1834304;1834866;1837028;1842200;2103348;2103350;2103352;2103354;2103356;2103358;2103360;2103362;2103364;2103366 ECD00160;ECD00198;ECD08160;ECD11069;ECD13063;ECD16533;ECD17455;ECD18300;ECD18583;ECD19678;ECD22303;stSG605644;stSG605645;stSG605647;stSG605648;stSG605649;stSG605656;stSG605657;stSG605660;stSG605662;stSG605663 OTTHUMP00000067298;OTTHUMP00000067299;OTTHUMP00000197715;TARP gamma-7;neuronal voltage-gated calcium channel gamma-7 subunit;transmembrane AMPAR regulatory protein gamma-7;voltage-dependent calcium channel gamma-7 subunit APPROVED protein-coding ENSG00000105605 13626 06062 606899 REVIEWED 1344995 CACTIN cactin, spliceosome C complex subunit 19 19 19 p13.3 3547464 3563656 - 3561626 3577813 - 3610626 3626813 - 6480464 14667819;15302935;15489334;15197164;15146197;15057824;12477932;11991638;10508479;9110174;8619474;17353931;19913121;20628086;20829348;21429463;23251661 58509 J3KMW8;K7EIU6;K7EMQ0;K7ENY9;K7EQE3;Q8WUQ7 ABBA01002835;AC005175;AC005542;AF052087;AF155102;AK299963;AMYH01009315;AW027691;AY917150;BC004262;BC019848;BF196424;CF272634;CN305928;CO248922;NM_001080543;NM_021231 AAC24305;AAC32903;AAD42868;AAH04262;AAH19848;AAI56485;AAI72549;AAX84551;BAG61789;NP_001074012;NP_067054;Q8WUQ7 Hs.128425 2132848;2132850 A005X06;G20563 C19orf29;FLJ17482;FLJ59622;NY-REN-24;fSAPc NY REN 24 antigen;NY-REN-24 antigen;cactin homolog;chromosome 19 open reading frame 29;functional spliceosome-associated protein c;renal carcinoma antigen NY-REN-24;uncharacterized protein C19orf29 APPROVED protein-coding ENSG00000105298 29938 VALIDATED 1312331 CADM4 cell adhesion molecule 4 19 19 19 q13.31 40929016 40946485 - 48818362 48835831 - 44126522 44143991 - 6480464 11536053;16261159;12477932;16825666;19565570;20200953;21139048;21900206;21544807 199731 Q8NFZ8 ABBA01040863;AC005525;AF363368;AK313028;AMYH01009840;BC068457;BC113963;CH471126;NM_145296 AAC32740;AAI13964;AAI40327;AAI41628;AAM60750;BAG35862;EAW57212;EAW57213;EAW57214;NP_660339;Q8NFZ8 Hs.370984 1658758;2109427;2124171 D19S832;IGSF4C__6451;RH48989 IGSF4C;NECL4;Necl-4;TSLL2;synCAM4 TSLC1-like 2;TSLC1-like protein 2;cell adhesion molecule 4;immunoglobulin superfamily member 4C;nectin-like 4;nectin-like protein 4 protein-coding ENSG00000105767 30825 17141 609744 VALIDATED 1322220 CADM1 cell adhesion molecule 1 11 11 q23.2 114549555 114880451 - 115044345 115375241 - 1580863;2289088;2289091;2289095;2289096;2289089;2289090;2296030;6480464 17260099;12079507;17428255;16814249;17009984;15589594;16532039 21436696;12826663;15811952;19371721;19115211;18957284;18922876;18726896;18684968;18559103;18498117;18471525;18332875;18084322;17326163;17300670;17130425;17018592;16394014;16311015;16303743;16205641;16108829;16083501;15905536;15781451;15535129;15471956;15231748;15184878;14970278;14639656;14633730;14559819;13679854;12975309;12973698;12942568;12925956;12920246;12716461;12477932;12432281;12234973;12202822;12112527;12050160;11279526;10610705;22706526;23063768;21190187;23142238;19561085;12759359;15741237;19643986;19653122;19783739;19835597;19854157;19995226;20190806;20215110;20379614;22173495;20375924;20709797;20838585;22289924;22438059;19913121;20570966;20628086;20677014;20340131;21329006;21045196;21081044;21131357;21643982;21271221;22528944;23301758;21526423;23136087;21067843;21389098;21880726;22207107;23176198;23530148;23028344;21139048;22237452;22547693;22429880;22392644;22863734;22926846;22851235;22940845;23504322;23251661;23310950;23047161;23330003 23705 F5H0H5;F5H125;F5H372;F5H8J9;H0YG94;Q8N2F4 AB017563;AB094146;ABBA01039760;ABBA01039761;ABBA01039762;ABBA01039763;AF132811;AK075502;AK172730;AK315245;AL080181;AMYH01004047;AMYH01004048;AP000462;AP000465;AP003174;AP003179;AP005020;AY309502;AY358334;BC035930;BC047021;BC125102;BC125103;BI915307;BM309987;BX641042;BX647110;CA447277;CA777709;CH471065;CR457157;CS019549;EF444987;HC206622;HE586496;HE586497;HE586498;HE586499;HE586500;HE586501;HE586503;NM_001098517;NM_014333 AAF69029;AAH47021;AAI25103;AAI25104;AAQ81866;AAQ88700;ACA06003;BAA75822;BAC11657;BAC66178;CAE46024;CAG33438;CAI58842;CBI85480;CCD32610;CCD32611;CCD32612;CCD32613;CCD32614;CCD32615;CCD32617;EAW67256;EAW67257;EAW67258;EAW67259;EAW67260;NP_001091987;NP_055148;Q9BY67 Hs.370510 1298102;1648013;1648700;1650814;1658206;1719075;1737731;1737739;1767897;1770956;1771335;1772266;1776499;1780256;1848851;1850449;1851350;1851976;2111824;2112322;2118026;2138486;2145896;2148007;2149180;2153786;2163949;2165191;2179931;2181289;2190899;5015961;5037552;5128209;7184936 2024;AFMA340WD1;C95578;C95582;C95583;C95588;C95596;C95603;C95606;C95619;C95631;C95632;C95641;C95642;D11S1077;D11S2038;D11S3323;D11S3337;D11S4502;D11S4636;D11S4693;D11S4897;D11S908;D15S1477;D8S2279;MARC_10475-10476:999705103:1;RH123254;RH47150;RH47303;RH65662;SHGC-152044;SHGC-154812;SHGC-31226;WI-20930 BL2;DKFZp686F1789;IGSF4;IGSF4A;MGC149785;MGC51880;NECL2;Necl-2;RA175;ST17;SYNCAM;TSLC1;sTSLC-1;sgIGSF;synCAM1 OTTHUMP00000238280;OTTHUMP00000238281;OTTHUMP00000238282;OTTHUMP00000238283;OTTHUMP00000238284;OTTHUMP00000238285;TSLC-1;TSLC1/Nectin-like 2/IGSF4;cell adhesion molecule 1;immunoglobulin superfamily member 4;immunoglobulin superfamily, member 4;immunoglobulin superfamily, member 4D variant 2;nectin-like 2;nectin-like protein 2;spermatogenic immunoglobulin superfamily;synaptic cell adhesion molecule;truncated CADM1 protein;tumor suppressor in lung cancer 1 protein-coding ENSG00000182985 5951 05746 605686 VALIDATED 1313847 CADM2 cell adhesion molecule 2 This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 3 3 3 p12.1 85754715 86870332 + 85858322 86200641 + 85008133 86123579 + 6480464 16311015;12477932;8889548;19861958;20379614;14702039;20935630;21062931;21864505;22589738;22832960 253559 G3XHN4;G3XHN7;G3XHN8;Q8N3J6 AB646739;AB646740;AB646741;AB646742;AB646743;ABBA01031081;ABBA01031082;ABBA01031083;ABBA01031084;ABBA01031085;ABBA01031086;ABBA01031087;ABBA01031088;ABBA01031089;AC018361;AC023600;AC107024;AC107026;AC108700;AC117452;AC119726;AC119729;AC132660;AC134650;AF538973;AK090787;AK094943;AK095545;AK295885;AL833049;AL834270;AMYH01013317;AMYH01013318;AMYH01013319;AMYH01013320;AMYH01013321;AMYH01013322;AMYH01013323;BC040985;BC105999;BC112136;BC112138;BM674450;BX954585;CH471110;CQ893573;NM_001167674;NM_001167675;NM_001256502;NM_001256503;NM_001256504;NM_001256505;NM_153184 AAI06000;AAI12137;AAI12139;AAN16368;BAG58681;BAK93302;BAK93303;BAK93304;BAK93305;BAK93306;CAD38945;CAH56314;CAH68708;EAW68874;EAW68875;NP_001161146;NP_001161147;NP_001243431;NP_001243432;NP_001243433;NP_001243434;NP_694854;Q8N3J6 Hs.164578 1337169;1339773;1342264;1659847;1660118;1673669;1679461;1682650;1688102;1693320;1694880;1705458;1707134;1715485;1720723;1720727;1733930;1740087;1749245;1754929;1789136;1849944;2125421;2127184;2130112;2131417;2151612;2154152;2155243;2164634;2175277;2176986;2180361;5092744 A005W32;A007K07;AFM161xg11;D3S1276;D3S1663;D3S2315;D3S2392;D3S2451;D3S2544;D3S3502;D3S4553;G16557;G32302;G42366;G44321;G59335;G59337;G65704;RH120985;RH12384;RH78551;RH78628;RH80056;RH99008;SHGC-110936;SHGC-141853;SHGC-77126;SHGC-77127;SHGC-81333;SHGC-83814;STS-H08139;UniSTS:73712;WI-18489;WI-21552 IGSF4D;MGC104534;MGC138341;MGC138343;NECL3;Necl-3;SynCAM 2;synCAM2 OTTHUMP00000213814;OTTHUMP00000213815;OTTHUMP00000213816;cell adhesion molecule 2;immunoglobulin superfamily member 4D;nectin-like 3;nectin-like protein 3;synaptic cell adhesion molecule 2 APPROVED protein-coding ENSG00000175161 29849 11046 609938 VALIDATED 1346732 CACYBP calcyclin binding protein The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q24-q25 173235194 173247786 + 174968571 174981163 + 2326117;2326146;6480464;6907045 16440310;18765951 17353931;18443365;18171983;17400182;16085652;15489334;14702039;12895292;12477932;12421809;12042313;12006993;11927578;11389839;19615732;20562859;20878073;18029348;21297076;21110948;22939629;20585948;22863883;22874833;22990118;16196087;19135240;20181957;21268134;18781797;22118674;21139048;21890473;21906983;18803400;21628590;22295074;19875381;23208506;21466614;22480271;22053931;22505724 27101 B2ZWH1;Q9HB71 ABBA01027873;AF057356;AF275803;AF314752;AK093425;AK294042;AK313278;AL035305;AMYH01001514;AW300675;AX058084;AY423723;BC005975;BC022352;BC067823;BC078151;BQ432793;CA951015;CH471067;NG_029961;NM_001007214;NM_014412;Z99127 AAC21458;AAG23817;AAG34170;AAH05975;AAH22352;AAH67823;AAH78151;AAS00486;BAG36086;BAG52713;BAG57394;CAA22910;CAC22475;EAW90982;EAW90983;NP_001007215;NP_055227;Q9HB71 Hs.508524 1644145;1667408;1710524;2124321;2136931;2162904;2164939;5017568 CACYBP;D1S2592;RH64562;SHGC-31968;SHGC-64074;SHGC-75931;SHGC-75932;SHGC-86290 GIG5;MGC87971;PNAS-107;RP1-102G20.6;S100A6BP;SIP OTTHUMP00000032884;OTTHUMP00000032885;OTTHUMP00000201857;S100A6-binding protein;Siah-interacting protein (SIP);calcyclin-binding protein;growth-inhibiting gene 5 protein;hCacyBP APPROVED protein-coding ENSG00000116161 30423 07316 606186 REVIEWED 1315991 CADM3 cell adhesion molecule 3 IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM, Mar 2008] 1 1 q21.2-q22 157408044 157438426 + 159141377 159172932 + 6480464 12826663;19165527;19062177;18502984;18420026;17903293;16710414;16467305;15893517;15741237;15340161;14702039;14659875;12975309;12477932;11536053;21325282;11544254;18686605;19565570;20237496;20598232;22360420;22291609;21139048;20078932 57863 Q8N126 ABBA01016620;AF062733;AF363367;AF529206;AK001560;AK289541;AK308915;AL035403;AMYH01001444;AY046418;AY358332;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;BC033819;CH471121;CS019555;CS019557;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;HC206628;HC206630;NM_001127173;NM_021189 AAD17540;AAH33819;AAL02143;AAM60749;AAN75603;AAQ88698;AAU47274;AAU47277;AAU47280;AAU47283;AAU47286;AAU47289;AAU47292;AAU47295;AAU47298;AAU47301;AAU47304;AAU47307;AAU47310;AAU47313;AAU47316;AAU47319;AAU47322;AAU47325;ABA10402;ABA10405;ABA10408;ABA10411;ABA10414;ABA10417;ABA10420;ABA10423;ABA10426;ABA10429;ABA10432;ABA10435;ABA10438;ABA10441;ABA10444;ABM81774;ABM84928;BAA91756;BAF82230;CAI58844;CAI58845;CBI85482;CBI85483;EAW52792;EAW52793;EAW52794;NP_001120645;NP_067012;Q8N126 Hs.365689 1340905;1674852;1846882;2117930;2141228;2164682 A001Y21;D1S2635;D1S3501;RH11558;RH12336;STS-T65055 BIgR;FLJ10698;IGSF4B;NECL1;Necl-1;TSLL1;synCAM3 OTTHUMP00000035289;OTTHUMP00000035290;OTTHUMP00000035291;TSLC1-like 1;TSLC1-like protein 1;brain immunoglobulin receptor;cell adhesion molecule 3;dendritic cell nectin-like protein 1 short isoform;immunoglobulin superfamily member 4B;nectin-like 1;nectin-like protein 1;synaptic cell adhesion molecule 3 APPROVED protein-coding ENSG00000162706 17601 13733 609743 VALIDATED 6480342 CAHM colon adenocarcinoma hypermethylated (non-protein coding) 6 163834097 163834982 - 8889548 100526820 ABBA01015111;AL356119;AMYH01016835;BG168587;BQ771676;BX381206;CA945055;NG_029604;NR_037593 Hs.644159 LINC00468 miscrna ENSG00000270419 42860 VALIDATED 1348167 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. [provided by RefSeq, Jul 2008] 2 2 p22-p21 27293762 27320158 + 27440258 27466654 + 1580863;2303530;2303540;2303532;5132586;5132591;5133412;5132587;6480464;6907045 2888462;6030068;3973436;13618893;1476792;15096496;2914957 21145461;21319273;8619816;15326225;15890648;9525610;18679823;17081983;16964243;16155188;15621215;15489334;15324660;14559996;14523024;12746293;12477932;12438317;11986331;11854437;4092695;2885743;2565865;1979741;20379614;20659789;16055720;19394292;16335966;22939629;16196087;16051665;18457437;19596686;21081666;21697133;21982950;18781797;21139048;21890473;21906983;21987572;20473970;21575865;22145905;22318606;22586326;17266347;19805454;20085233;21963094;22623428;23000965;23143245;23438482;18729074;19380743;22505724 790 F8VPD4;H7BZB3;H7C2E4;H7C3Z5;P27708 AB621827;ABBA01045199;AC013403;AC013413;AK226105;AMYH01010195;BC014178;BC065510;BM927624;BU541191;BU558264;CH471053;D78586;M38561;NM_004341 AAA51907;AAH14178;AAH65510;AAX93165;AAY24293;BAA11423;BAK64162;EAX00612;EAX00613;EAX00614;NP_004332;P27708 Hs.377010 1712186;1792206;1793306;2181945;5024555;5121494 G54144;PMC139788P1;PMC207647P2;RH70745;SGC30858;WI-14618 CAD protein;CAD trifunctional protein;OTTHUMP00000122585;OTTHUMP00000201035;multifunctional protein CAD APPROVED protein-coding ENSG00000084774 1424 06437 114010 REVIEWED 1344966 CADPS Ca++-dependent secretion activator This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] 3 3 3 p14.2 62401123 62879063 - 62359061 62836094 - 62384021 62861064 - 1299540;1580863;6480464 1516133 15489334;14702039;14530279;12659812;12477932;12421765;12168954;10574461;9697858;9525942;9289490;1429734;15857609;16169070;20379614;19913121;20628086;21697133;21798848;22566634;22747683;17984325;21601610;23382691 8618 H0YFP0;H7C4K9;H7C4P2;H7C4T6;H7C538;H7C5J0;Q9ULU8 AB032947;AB593079;ABBA01024327;ABBA01024328;ABBA01024329;AC012519;AC092039;AC104161;AC124860;AF458662;AK000873;AK127506;AL833895;AMYH01013241;AMYH01013242;BC015754;BC029460;BC035100;BC072684;BC131731;BX647166;CH471055;NM_003716;NM_183393;NM_183394;R54020;U36448 AAA79701;AAH15754;AAH29460;AAH72684;AAI31732;AAM61861;BAA86435;BAJ84019;CAD38751;EAW65405;EAW65406;EAW65407;EAW65408;EAW65409;EAW65410;EAW65411;NP_003707;NP_899630;NP_899631;Q9ULU8 Hs.654933 1337419;1337606;1644042;1647282;1657287;1657876;1671482;1677466;1708592;1708800;1713229;1713511;1714245;1715409;1718699;1722711;1724479;1735284;1740143;1751091;1756377;1759443;1760261;1767833;1851309;1855738;2112746;2113736;2116208;2117026;2120244;2126251;2128538;2134199;2151060;2160057;2164161;2164163;2171591;2172893;2184634;2186021;5094776 A002A38;AB049865;AGAT128;CHLC.GATA61E08;D3S1312;D3S2865E;D3S2931E;D3S3068;D3S3119;D3S3395;D3S3506;D3S3566;D3S3913;D3S4010;D3S4440;G17282;G19863;G60440;RH119901;RH120240;RH120537;RH120604;RH122405;RH123040;RH12341;RH47457;RH78270;RH91169;SHGC-104973;SHGC-132569;SHGC-143347;SHGC-150757;SHGC-31932;SHGC-36112;SHGC-77045;SHGC-77057;SHGC-77062;SHGC-77085;SHGC-81061;SHGC-85085;STS-T59032;WI-12448;WI-20079 CADPS1;CAPS;CAPS1;KIAA1121 CAPS-1;Ca2+-dependent activator protein for secretion;Ca2+-dependent secretion activator;Ca2+-regulated cytoskeletal protein;OTTHUMP00000213223;OTTHUMP00000213348;OTTHUMP00000213351;calcium-dependent activator protein for secretion 1;calcium-dependent secretion activator 1 APPROVED protein-coding ENSG00000163618 1426 05236 604667 REVIEWED 1604175 CAGE1 cancer antigen 1 6 6 6 p24.3 8556649 8619686 - 7271886 7334941 - 7326887 7389942 - 6480464 17786288;17114284;16964403;15489334;14702039;14574404;12531476;12477932 285782 D6R9A7;D6RCC6;E7EUJ7;Q8TC20 ABBA01022040;ABBA01022041;AF414185;AK097760;AL139095;AMYH01016063;AMYH01016064;BC026188;BC026194;BC033545;CH471087;NM_001170692;NM_001170693;NM_205864 AAH26194;AAH33545;AAO47239;ABM83382;ABM86594;BAC05162;EAW55206;EAW55207;EAW55208;EAW55209;NP_001164163;NP_001164164;NP_995586;Q8TC20 Hs.721486 1663147;2145805 D8S1159;RH36530 CT3;CT95;CTAG3;FLJ40441;bA69L16.7 CT3;OTTHUMP00000015995;OTTHUMP00000015996;OTTHUMP00000221197;OTTHUMP00000221198;OTTHUMP00000221200;OTTHUMP00000221202;cancer-associated gene 1 protein;cancer/testis antigen 3;cancer/testis antigen 95;cancer/testis antigen gene 1 protein-coding ENSG00000164304 21622 10511 608304 VALIDATED 1342691 CADPS2 Ca++-dependent secretion activator 2 This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 7 7 7 q31.3 116762799 117331572 - 121745714 122313790 - 121958478 122526813 - 6480464 19058789;19008227;17380209;16344560;15857609;15489334;14702039;14530279;12659812;12477932;10997877;12421765;14715936;20171287;20379614;19690564;21626674;22001167 93664 B7ZM57;C9IYE1;F8W8P5;H0Y8B5;H7BYR4;Q9HCI1 AACC02000001;AB046811;ABBA01057742;ABBA01057743;ABBA01057744;ABBA01057745;ABBA01057746;ABBA01057747;ABBA01057748;AC004594;AC004838;AC004986;AC006009;AC015983;AC091438;AF401638;AK000768;AK025672;AK054853;AK126518;AL833058;AMYH01017899;AMYH01017900;AY264289;BC054339;BC136601;BC144278;BC144279;BX110721;CH236947;CH471070;DA118516;DA248542;DA323097;NG_016215;NM_001009571;NM_001167940;NM_017954 AAH54339;AAI36602;AAI44279;AAI44280;AAN38707;AAP22132;BAA91372;BAB13417;BAB15210;BAG51434;BAG54341;CAH56288;EAL24339;EAW83571;EAW83572;EAW83573;EAW83574;EAW83575;EAW83576;NP_001009571;NP_001161412;NP_060424;Q86UW7 Hs.649459 1338770;1341619;1646327;1651971;1664427;1706950;1710048;1710316;1714075;1721995;1724705;1752085;1769210;1771513;1774409;1786406;1788796;1796696;1850332;1851344;1852164;2113710;2116452;2126505;2132732;2134201;2134661;2142875;2147856;2158792;2165472;2168107;2169503;2180571;2184040;2187721;2187723;2187725;2189277;2189279;2189281;2189283;2189285;2189287;2189289;2189291;2189293;2189295;2189297;2189299;2189301;2189303;2189305;2189307;2189309;2189311;2189313;2189315;2189317;2189319;2189321;2189323;2189505;7186670 AB070023;D7S1550;D7S1906;D7S1960;D7S1982;D7S2177;D7S2219;D7S2486;D7S2529;D7S3210;D7S3211;D7S3213;D7S3214;D7S3215;D7S3216;D7S3217;D7S3218;D7S3219;D7S3220;D7S3221;D7S3222;D7S3223;D7S3224;D7S3225;D7S3226;D7S3227;D7S3228;D7S3229;D7S3230;D7S3231;D7S3232;D7S3233;D7S3234;D7S3235;D7S3236;D7S3237;D7S3238;D7S711;D7S731;G59883;GDB:1234292;GDB:1317866;GDB:1317954;GDB:1318270;GDB:1318464;NIB2049;RH119642;RH122556;RH137681;RH46936;RH48021;RH48144;RH65176;RNF133_1733r1;SGC38250;SHGC-106021;SHGC-171982;SHGC-32546;SHGC-80972;SHGC-82300;SHGC-82403;STS-AA026969;WI-14238 FLJ40851;KIAA1591 CAPS-2;Ca2+-dependent activator protein for secretion 2;OTTHUMP00000211454;OTTHUMP00000211455;OTTHUMP00000213045;calcium-dependent activator protein for secretion 2;calcium-dependent secretion activator 2 APPROVED protein-coding ENSG00000081803 16018 12996 609978 REVIEWED 732083 CALB1 calbindin 1, 28kDa Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease are calbindin-depleted. [provided by RefSeq, Jul 2008] 8 8 q21.3 91140014 91164283 - 91070838 91095107 - 704404;633843;704383;1580863;6480464;7204685 12204357;12372637;20943758 3691519;16928804;18587625;18568448;18359862;18259068;17442486;17156698;16421571;15741335;15641794;15489334;14702039;12684061;12606474;12520521;12477932;12176979;11994015;10841767;9373717;8739042;7943215;2897519;2565876;1906795;1713126;1537319;20214988;16763551;19674066;20054781;20098747;20452033;22483853;17257825;21364983;22272358 793 B7Z9J4;E5RG14;E5RIZ8;P05937 ABBA01037403;AC004612;AC123779;AF068862;AF070717;AK054881;AK295585;AK312491;AK315959;AMYH01018873;BC006478;BC020864;BX537530;CH471060;M19878;M19879;NM_004929;S46006;X06661 AAA98991;AAA98992;AAB19408;AAC14672;AAC25277;AAC62230;AAH06478;AAH20864;BAG35393;BAG51438;BAH12116;BAH14330;CAA29860;EAW91665;EAW91666;NP_004920;P05937 Hs.65425 1653399;1657965;2119893;2185604;2218332 CALB1_4495;D8S1947;SGC30430;SHGC-30996;WI-16365 CALB D-28K;OTTHUMP00000166027;OTTHUMP00000225441;RTVL-H protein;calbindin;calbindin 1;calbindin 1, (28kD);calbindin D28;vitamin D-dependent calcium-binding protein, avian-type APPROVED protein-coding ENSG00000104327 1434 00229 114050 REVIEWED 1351311 CALCP calcitonin pseudogene 11 11 11 p15.1 15056164 15056664 + 14885522 14886222 + 14929045 14929545 + 8468047;2898385 798 ABBA01061099;AC090835;AMYH01003406;NG_001088;X07964;X07965 2139647 CALC-P CALC3 pseudo 1439 INFERRED 1350431 CALCB calcitonin-related polypeptide beta 11 11 p15.2-p15.1 15051722 15056753 + 15095146 15100177 + 1580863;6480464 12477932;2985435;19192276;19086053;15761041;15489334;14702039;11803621;8468047;6091915;3493259;3492492;3492393;2322288;1318039;18577758;18240029;12036966;21641113 797 E7ESF5;P10092 ABBA01061097;AC090744;AI937230;AK054728;AK291188;AMYH01003406;BC092468;BI668461;CH471064;M28640;M28641;NM_000728;X02404;X04855;X04861 AAH92468;BAF83877;CAA26249;CAC05295;EAW68466;EAW68467;NP_000719;P10092 Hs.534305 1742567;1854927 D11S4626;GDB:197895 CALC2;CGRP-II;CGRP2;FLJ30166 OTTHUMP00000227061;OTTHUMP00000231700;beta-CGRP;beta-type CGRP;calcitonin 2;calcitonin gene-related peptide 2;calcitonin gene-related peptide II;calcitonin-related polypeptide, beta protein-coding ENSG00000175868 1438 11742 114160 VALIDATED 733108 CALCRL calcitonin receptor-like 2 2 q32.1 187916091 188021266 - 188207846 188313021 - 1580863;6480464 7818539;19598235;19394311;19210874;18198792;17785463;17675298;17503773;17310067;17067815;16622024;16495482;16410241;16344560;16293613;15797661;15641806;15613468;15340161;15300632;15245870;14722252;14668209;12824306;12684703;12684503;12630808;12574158;12538603;12490608;12419522;12234182;12213903;12128288;12093471;12084528;11973435;11937264;11921352;11814625;11693189;11535606;11420389;11389975;11387328;10903324;10882736;10772950;10767413;10217420;9876047;9620797;8626685;3001670;2826160;12036966;20954838;18039931;18240029;19581316;19898635;19903822;19913063;20074556;20379614;20424473;22933837;20946927;21703310;22102369;22142144;22484227;22208649 10203 B8ZZJ4;E7EN01;Q16602 AA436933;AA961493;ABBA01062350;AC007319;AC074020;AK291630;AK292998;AL602685;AMYH01011339;AMYH01011340;AY389506;BQ002778;CB270158;CH471058;DA097876;DA215003;DA217003;DA883991;DQ280491;L76380;NM_001271751;NM_005795;U17473 AAA62158;AAC41994;AAI56828;AAQ91332;AAY14806;AAY14996;ABC16643;BAF84319;BAF85687;EAX10925;EAX10926;NP_001258680;NP_005786;Q16602 Hs.470882;Hs.744587 1338110;1661519;1669962;1705368;1715751;1719717;1734754;1747981;1751481;1849993;2108713;2161781;2166799;5014051;5022200;5022651;5093136;7186944 A006O27;A009H16;CALCRL_7967;D11S2921;D2S152;D2S1541E;D8S2278;G32541;G66836;L18426;RH119322;RH123547;RH70468;SGC31527;SHGC-105313;SHGC-34224;SHGC-83539 CGRPR;CRLR CGRP type 1 receptor;OTTHUMP00000163474;OTTHUMP00000205433;OTTHUMP00000205434;calcitonin gene-related peptide type 1 receptor;calcitonin receptor-like receptor protein-coding ENSG00000064989 16709 11809 114190 VALIDATED 730992 CALCA calcitonin-related polypeptide alpha This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 11 11 p15.2 14944792 14950408 - 14988215 14993832 - 1580863;734677;2314032;2314035;2314033;2314034;5684343;5684013;5684010;5684360;5684019;5684020;6480464;5684017;5684345;7204486;7204479;7204487;7205498 2502220;19816194;17151309;19152794;17934713;19900492;21718723;21964254;19563774;21181115;20959432;21195698;19684430;15928032;19194162;15583078;15286264 21219690;21658317;11803621;11389975;11337490;11317366;11185743;10754330;9620797;8626685;8468047;8405394;6610687;6609312;6546550;6327497;6148938;6132180;5760861;3872459;3549095;3492492;3485540;3259294;3034287;3001670;2983422;2578663;2571128;2039456;2001366;1988044;1761559;1318039;15155765;17558349;17552872;17535749;17485015;17481780;17441790;17381353;17251226;17149558;17123735;17101796;17038199;17026622;16996466;16890288;16840549;16720289;16712930;16710309;16611736;16597919;16574742;16531504;16511394;16439457;16236878;15880427;15784626;15761654;15761041;15621724;15489334;15449935;15319367;15300632;15168342;14984255;14759258;14745805;14684361;14668209;14654229;14627864;14586070;12917321;12871824;12728303;12594852;12590613;12540523;12529288;12517415;12477932;12446725;12369791;12359227;12234182;12231407;12220731;12213903;12198603;12063634;8078488;8940110;17983652;2408883;9685362;17267696;1326102;10642343;10822112;17241109;16014619;11014233;16904178;3266556;18057382;19543500;19541585;19453261;19440016;19299090;19086053;19078972;18959118;18953261;18941191;18784182;18779512;18626012;18574663;18525431;18384419;18295515;18211417;18197882;18180663;18167349;17941085;17785463;17710246;17676478;17669797;18556380;20375903;17207965;15248232;15203218;16386179;18240029;18403669;19236383;19282810;19447044;19484659;19541012;19589278;19623026;19736013;19797133;19829249;19909213;20010500;20046084;20146868;20173430;20233513;12036966;20214413;18577758;19715516;20654671;19913121;20628086;20654748;19485922;20131075;20441469;20805714;20890583;20146986;21211657;20832068;19685709;17087112;20930646;20530033;20595156;21216873;21703310;22607374;21541027;10882736;14722252;22652631;20929576;20699253;20143189;21778801;21391919;21550738;22200484;22371911;21078153;21083886;21352816;21423046;21996233;22207498;21457239;22429353;23214280;20803037;21843355;21937947;22149667;22550867;22019953;22399852;22074408;22079264;22631226;22898635;21289592;22233274;22573121;15696922;23356193;22961239;23010746;23118979;22677443;22685586;18000879;23436675;23580106;22960196;23237777;22208649;22561677;22819536 796 P01258;P06881 A15601;ABBA01061097;AC090835;AMYH01003406;BC069684;BC069704;BC069760;BC069778;BC093753;BC101599;BC143562;BF447272;BF942024;CD612754;CH471064;DQ080435;FB571423;FB571425;FB571427;FO082042;K03512;K03513;M12666;M12667;M26094;M26095;M28637;M64486;NG_015960;NM_001033952;NM_001033953;NM_001741;X00356;X02330;X03662;X15943 AAA35501;AAA51912;AAA51913;AAA51914;AAA52011;AAA52012;AAA52124;AAA58403;AAH69684;AAH69704;AAH69760;AAH69778;AAH93753;AAI01600;AAI43563;AAY68212;ADQ32890;CAA01243;CAA25103;CAA26189;CAA26190;CAA27299;CAA34070;CAR95129;CAR95130;CAR95131;EAW68468;EAW68469;NP_001029124;NP_001029125;NP_001732;P01258;P06881 Hs.37058 1694478;1742501;2127998;2128812;2217100;5111567 CALCA_3026;D11S4427;G06648;G42969;GDB:197828;STS-X15943 CALC1;CGRP;CGRP-I;CGRP1;CT;KC;MGC126648 OTTHUMP00000216318;OTTHUMP00000216319;OTTHUMP00000216320;OTTHUMP00000216321;alpha-type CGRP;calcitonin;calcitonin 1;calcitonin gene-related peptide 1;calcitonin gene-related peptide I;calcitonin/calcitonin-related polypeptide, alpha;calcitonin; calcitonin gene-related peptide 1;katacalcin APPROVED protein-coding ENSG00000110680 1437 00238 114130 REVIEWED 731363 CALB2 calbindin 2 This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 16 16 q22.2 69950127 69981842 + 71392616 71424341 + 1580863;2315881;6480464;7204685 18604736;20943758 18029348;19435792;18992917;18801393;18297277;18269580;18223328;18214032;18189312;18091323;17535091;16415795;16289944;15950053;15489334;15285029;12542677;12477932;7643192;7607211;2618861;2001709;1906795;12359331;12064772;12051635;11642722;10942575;9452956;9370058;8125298;20509881;20576695;16270201;16344560;19450707;19550372;19648883;19854615;19998412;20138841;20175889;2071140;2612220;8889548;22796338;22555304;22891683;21629658;23075894;22360420;22272358;22020045;21139048;22011651;22343111;23033479 794 A6NER6;H3BMN5;H3BN14;P22676 ABBA01016777;ABBA01032109;ABBA01032110;AC106736;AK222495;AK222648;AK291096;AMYH01007787;BC015484;BM664507;BX116479;CH471166;DA060805;NM_001740;NM_007088;NR_027910;X56667;X56668 AAH15484;BAD96215;BAD96368;BAF83785;CAA39991;CAA39992;EAW59240;EAW59241;EAW59242;EAW59243;EAW59244;NP_001731;NP_009019;P22676 Hs.106857 1341076;1741349;1763963;2134515 D16S681;GDB:180914;SHGC-11961;SHGC-147616 CAB29;CAL2;CR 29 kDa calbindin;OTTHUMP00000174922;calbindin 2;calbindin 2, (29kD, calretinin);calbindin 2, 29kDa (calretinin);calbindin D29K;calretinin APPROVED protein-coding ENSG00000172137 1435 00230 114051 REVIEWED 731717 CALCOCO1 calcium binding and coiled-coil domain 1 12 12 12 q13.13 53754817 53771222 - 52391169 52407486 - 54104902 54121307 - 5128512;6480464 16394250 19183483;19165232;16931570;16713569;16381901;16344560;16344550;16189514;15851553;15522220;15489336;14702039;12975309;12601173;12477932;11256614;11230166;11076863;10819331;8125298;16169070;20211142;16717280;21832049;18029348;20360068;19953087 57658 F8VPN1;F8VQE3;F8VRQ9;F8VUB3;F8VWP8;F8VXS2;F8VZI3;F8W0X2;H3BRW8;Q9P1Z2 AB040969;ABBA01008358;ABBA01008359;AC076968;AF370415;AK027881;AK092788;AK122773;AK222646;AK294424;AK296497;AK309199;AK315578;AL136895;AMYH01004483;AY211909;AY358397;AY563137;BC003177;BX538208;CD723746;CH471054;CR533567;DB060684;NM_001143682;NM_020898;NR_026554 AAH03177;AAO65163;AAQ15251;AAQ88763;AAT68474;BAA96060;BAB55428;BAG52609;BAG53720;BAG57671;BAG59131;CAB66829;CAD98068;CAG38598;CAL38131;EAW96727;EAW96728;EAW96729;EAW96730;EAW96731;EAW96732;EAW96733;NP_001137154;NP_065949;Q9P1Z2 Hs.156667 1687219;2142302;2143136;5021680 RH8151;STS-T71651;WI-11261;ksks136 Cocoa;KIAA1536;PP13275;calphoglin OTTHUMP00000242802;OTTHUMP00000242803;OTTHUMP00000242804;OTTHUMP00000242924;OTTHUMP00000242925;calcium-binding and coiled-coil domain-containing protein 1;coiled-coil coactivator protein;coiled-coil leucine zipper coactivator 1;inorganic pyrophosphatase activator;kiaa1536 protein;sarcoma antigen NY-SAR-3 protein-coding ENSG00000012822 29306 13868 VALIDATED 1601886 CALCOCO2 calcium binding and coiled-coil domain 2 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q21.32 43362488 43396512 + 44263371 44297228 + 46908350 46942607 + 6480464 12869526;7540613;9230084;17635994;16189514;15231748;14747555;12477932;12033769;8125298;19285159;17207965;18029348;19820708;21552525;23143396;21646350;23022382;21079414;21988832;22053931;23000965;23209807;18985028;21565611;21903422;21139048;21890473;21906983;21963094;21964925;16969126;23386746;22505724 10241 D6RBF9;D6RBI4;D6REB0;D6RF70;D6RJE7;E9PBE5;H0Y9G3;H0YBP4;I3L493;I3L4E1 ABBA01041177;ABBA01041178;ABBA01041179;ABBA01041180;AC068531;AF085965;AK222666;AK223227;AK293137;AK293329;AK298177;AK303313;AK304024;AK314796;AL042638;AL046722;AMYH01008456;AMYH01008457;BC004130;BC015893;BE315542;BG773301;BU620013;CH471109;CR456763;NM_001261390;NM_001261391;NM_001261393;NM_001261395;NM_005831;U22897 AAA75297;AAH04130;AAH15893;ADQ32739;ADZ15727;BAD96386;BAD96947;BAG37327;BAG56685;BAG56845;BAG60448;BAG64382;BAG64939;CAG33044;EAW94707;EAW94708;NP_001248319;NP_001248320;NP_001248322;NP_001248324;NP_005822;Q13137 Hs.514920 1645852;1649587;1769192;1769385;2148569;2152890;5015961 D15S1477;RH48296;SGC32799;SGC34389;SHGC-33986;STS-U22897;WI-11586 MGC17318;NDP52 OTTHUMP00000218344;OTTHUMP00000218345;OTTHUMP00000218346;OTTHUMP00000218347;OTTHUMP00000218348;OTTHUMP00000218349;OTTHUMP00000218351;antigen nuclear dot 52 kDa protein;calcium-binding and coiled-coil domain-containing protein 2;nuclear domain 10 protein 52;nuclear domain 10 protein NDP52;nuclear dot protein 52 APPROVED protein-coding ENSG00000136436 29912 06846 604587 REVIEWED 731272 CALCR calcitonin receptor This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 7 7 q21.3 92891735 93041686 - 93053799 93204042 - 704404;1580863;6480464;7240710 17714780;17709929;17487556;16713399;16412323;16363366;16280328;15966503;15929987;15860547;15856322;15670850;15490304;15489334;15279076;15155765;15086532;14614653;14583624;12905735;12853948;12771454;12690205;12565884;12531889;12517415;12477932;12375338;12016463;11858573;11560994;11464063;11353946;11298188;11136533;10865224;10570950;10385705;9817931;9571205;8143880;7961748;7789182;7733946;7720653;12383251;12397072;9694898;12147682;12821648;8078488;15563840;7619207;1331173;11250927;7588285;19453261;19255718;18676680;18622089;18240029;18923429;19170196;19445988;19447889;19625176;19692168;19903822;19946674;20424473;4961748;7769107;12036966;20961463;21033393;19913121;20654748;21462477;10882736;14722252;22335784;23202124;20869948;23137636 799 A4D1G6;F5H605;P30988;Q5ZGL8;Q659U6 AACC02000014;AB022177;AB022178;ABBA01045790;ABBA01045791;AC003078;AC005024;AJ831406;AJ831407;AK313996;AMYH01017691;AY430048;BC069611;BC075028;CH236949;CH471091;FN994993;FN994994;FN994995;FN994996;L00587;NG_013005;NM_001164737;NM_001164738;NM_001742;S77876;U26553;U26554;X69920;X82466 AAA35640;AAB83945;AAC50300;AAC50301;AAD14268;AAH69611;AAH75028;AAR06949;BAA86928;BAA86929;BAG36708;CAA49541;CAA57849;CAH40796;CAH40797;CBN80565;CBN80566;CBN80567;CBN80568;EAL24142;EAW76813;EAW76814;NP_001158209;NP_001158210;NP_001733;P30988 Hs.489127 1721791;1786260;1857176;2110295;2146322;2169611;2182509 CALCR;CALCR_3944;D7S2736;G59766;GDB:1317880;GDB:1317942;SHGC-144374 CRT;CT-R;CTR;CTR1 CT-R;OTTHUMP00000162535;OTTHUMP00000208683;OTTHUMP00000208686;calcitonin receptor 1643401 BMD1_H APPROVED protein-coding ENSG00000004948 1440 00239 114131;166710 REVIEWED 1345562 CALM1P1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 X X X q21.33 95279440 95279547 + 94641463 94641570 + 94754807 94754914 + 7925473;2885258 802 ABBA01064717;AL022161;AMYH01022693;NG_001089;U12435 1702076 DXS1398 CALML1 pseudo 1443 INFERRED 1603161 CALHM1 calcium homeostasis modulator 1 This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010] 10 10 q24.33 105203134 105208635 - 105213144 105218648 - 6480464 18585350;19070563;19038093;18667147;15489334;15164054;12477932;20534741;20574532;20592574;20634593;19191331;19191332;19472444;19545933;19655363;19944073;20005921;20061624;20164573;20164592;20164602;20847397;22874670;21439911;21574960;21378601;21629967;23467090;23300080 255022 Q8IU99 ABBA01063099;AL139339;AMYH01003026;BC036193;BC036208;CH471066;NG_016855;NM_001001412 AAH36193;AAH36208;ADZ15984;EAW49632;NP_001001412;Q8IU99 Hs.680365 1782028 SHGC-149649 FAM26C;MGC39514;MGC39617 OTTHUMP00000020413;calcium homeostasis modulator protein 1;family with sequence similarity 26, member C APPROVED protein-coding ENSG00000185933 23494 16879 612234 REVIEWED 1353740 CALM2P1 calmodulin 2 pseudogene 1 17 17 17 q24.3 64809189 64810303 + 65749159 65749497 + 68237388 68238519 + 2717417 100128390 ABBA01028923;AC005242;AMYH01008599;NG_002716;X13907 1742223 GDB:193857 pseudo 1446 INFERRED 1347189 CALHM3 calcium homeostasis modulator 3 10 10 10 q24.33 98972496 98978932 - 105222551 105228981 - 105232561 105238997 - 18585350;15489334;15164054;12477932;16385451;20164573 119395 Q86XJ0 ABBA01063099;AL139339;AMYH01003026;BC039499;BC043367;NM_001129742 AAH39499;AAH43367;ADR82711;NP_001123214;Q86XJ0 Hs.364624 FAM26A;bA225H22.7 OTTHUMP00000020410;calcium homeostasis modulator protein 3;family with sequence similarity 26, member A protein-coding ENSG00000183128 23458 13300 VALIDATED 1344159 CALM1P2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 7 7 7 p11.2 55430633 55431016 - 55294905 55295288 - 55327411 55327794 - 7925473 804 AACC02000090;ABBA01011850;AC073324;AMYH01017268;CH236957;NG_001090;U12475 pseudo 1444 INFERRED 1350868 CALM2P3 calmodulin 2 pseudogene 3 13 13 13 q14.11 22802541 22803177 - 40640529 40643941 - 41744724 41745342 - 1999288 807 ABBA01021276;AL354696;AMYH01005061;NG_004858;X52956 pseudo 1448 INFERRED 1344512 CALM2P2 calmodulin 2 pseudogene 2 10 10 10 q22.1 65202461 65203593 + 71593347 71593991 + 71923365 71924497 + 1999288 806 ABBA01019620;AL731540;AMYH01002811;NG_001091;X52955 pseudo 1447 INFERRED 1352091 CALML1 calmodulin-like 1 809 1450 5129008 CALM2P4 calmodulin 2 pseudogene 4 13 13 q32.2 80137079 80137577 - 99293063 99293561 - 643193 ABBA01027136;AL356423;AMYH01005323;NG_011335 2144817 G17682 pseudo 39661 INFERRED 7175949 CALML3-AS1 CALML3 antisense RNA 1 10 p15.1 5557803 5558553 - 16344560 100132159 ABBA01034777;AK128534;AL732437;AMYH01002002;DA220455;DA770774;XR_158859;XR_159195;XR_171832 BAC87486 Hs.239600;Hs.678826;Hs.738690 miscrna 44682 MODEL 1317957 CALHM2 calcium homeostasis modulator 2 10 10 10 q24.33 98946475 98952094 - 105196536 105202065 - 105206543 105212162 - 1580863;6480464 18585350;16344560;15489334;15164054;14702039;12477932;9110174;8619474;16385451;20164573 51063 Q9HA72 ABBA01063099;ABBA01063100;AF131810;AK022195;AL139339;AMYH01003026;BC000039;CA432041;CH471066;DB109582;NM_015916;NR_024552;NR_046344 AAD20050;AAH00039;BAB13983;EAW49633;EAW49634;EAW49635;EAW49636;EAW49637;EAW49638;NP_057000;Q9HA72 Hs.241545 1661779;1681967;1771680;1848742;2168329 D10S1325E;D10S2276;NIB223;RH11327;RH92378 FAM26B OTTHUMP00000020411;OTTHUMP00000020412;calcium homeostasis modulator protein 2;family with sequence similarity 26, member B protein-coding ENSG00000138172 23493 13301 612235 VALIDATED 735369 CALM1 calmodulin 1 (phosphorylase kinase, delta) This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 14 14 q32.11 89933126 89944363 + 90863327 90874619 + 1300048;2305981;6480464;6892953;6484113;6907045;7204676;7204677;7240705;7240708 10487978;21216827;10884684;18083096;22717267;23091085 22295092;19080622;19034380;19023099;18940010;18452398;18178620;18001530;17975119;17884685;17654480;17580302;17569884;16627785;16613843;16359877;16344560;16299511;16258073;16154564;16127172;16084495;16030015;16013055;15902271;15817490;15806159;15746192;15746150;15670850;15632291;15583004;15522886;15316014;15229223;15147735;15104175;15087444;14613930;14594800;14551202;12925680;12821674;12808128;12805215;12727204;12724311;12715898;12626507;12556500;12509414;12477932;12475216;12446675;12408866;12358748;12223552;12153558;12135876;12051765;12034722;12032157;12006621;11984006;11981030;11953448;11827172;11741295;11736632;11585916;11457836;11448995;11395482;11323678;11278607;11248124;11178895;11171103;11054265;10899953;10893241;10860555;10852921;10816571;10757985;10748158;10747990;10692436;10681496;10547355;10488094;10416864;10411641;10333484;10088721;10075700;10075657;22437832;22451665;7525583;7490111;6847627;6385987;3472906;3350007;3111527;2507540;2487274;2455687;2223880;2161834;2123288;1790714;1660262;1544444;1520270;1332771;11072229;8312049;8226798;9282777;17046994;16229872;10625668;9658102;8862395;8780394;9362478;8573130;2062825;1872871;9096366;11847276;10827182;11734550;8626479;12221128;10823944;12809501;14695896;7559563;10026200;10026195;9952395;9923700;9837900;9822657;9753452;9728925;9681195;9512352;9490638;9374536;9341188;9278050;9202019;9188503;9115241;9092566;9009191;9003189;8901523;8900147;8824319;8769426;8756646;8670801;8663089;8639568;8625412;8486648;8314583;8206911;7947686;7925473;7887964;7836475;7642608;7593266;15048887;17314412;21145461;2853949;15746172;14960328;8872303;15664518;14985437;15494036;18768750;18989758;19133300;19596235;19615732;19667195;20468064;2445749;20562859;21047202;19855925;19913121;20628086;20738160;21124984;19658100;16522924;22044025;17942410;23106098;23159936;23370391;21439835;21555518;21640070;1519061;20618440;20705923;21664913;23019329;15990872;19358819;20103772;21167176;22996592;15161933;16051665;21730051;10880439;15840729;17568776;18070603;21901608;22266860;23040497;23388215;9677319;12202484;12626508;15851513;11397791;11807557;12594225;17379601;19614740;20639865;21726808;21963094;22100452;9242710;22009783;22009847;22323446;22342729;21372285;17696464;19322201;22588125;22779921;16338416;16512683;18567582;23455922;23552119;7607248;23322042;23398456;23662433;12901717;16760425;21150319;21988832;23152621;23235156;23438482;23300090;23285036;23457304;22767601;22801425;12610000;22856685;22939629;11811958;16051151;17202341;18370588;18553937;20012528;20488189;20876399;20946164;20956522;21102557;21799007;22004035;22363329;22505724;22768143;22803592;9774336 801 B4DJ51;E7ETZ0;G3V226;G3V361;G3V479;Q96HK3;Q96HY3 ABBA01030501;AC006536;AI651063;AK289937;AL512791;AMYH01005946;AU122722;AY189287;BC000454;BC007965;BC008597;BC011834;BC042831;BC047523;BT006818;BX479707;BX482177;BX537677;BX648223;CH471061;M27319;NG_013338;NM_006888;U12022;U16850;U16851 AAA35635;AAB60644;AAD45181;AAH00454;AAH07965;AAH08597;AAH11834;AAO86731;AAP35464;BAF82626;EAW81427;EAW81428;NP_008819;P62158 Hs.282410 1658699;1666022;1712188;1730279;1730341;1772524;1788760;1790313;2116051;2116053;2130182;2134446;2144055;2150520;2159826;2184383;2190511;5016476;5017841;7184691;7184708;7186388 1928;CALM1;D14S1231;D14S642E;D14S89E;D14S901;D14S98E;EST13B3;G06214;G54145;GDB:433805;IB3608;RH11167;RH11243;RH130082;RH70561;SHGC-30527;SSC3C06;WI-18834 CALM2;CALM3;CALML2;CAMI;CPVT4;DD132;PHKD;caM OTTHUMP00000244938;OTTHUMP00000244939;OTTHUMP00000244940;OTTHUMP00000244941;OTTHUMP00000244942;caM;calmodulin;calmodulin 1;phosphorylase kinase, delta subunit;prepro-calmodulin 1 APPROVED protein-coding ENSG00000198668 1442 00241 114180;614916 REVIEWED 730856 CALD1 caldesmon 1 This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 7 7 q33 134114711 134306014 + 134464164 134655480 + 1580863;2314036;6480464 10644879 1555769;16130169;18772142;18353764;17631293;17582218;17081983;16800003;16115893;15958622;15521070;15489334;15456752;15226374;15161654;15047636;14702039;12613668;12477932;11996092;11894847;11759055;11736632;11098082;10919986;10766836;10559276;9415999;9003189;8889548;8581978;8307018;1885618;1601129;1465449;14627618;15146197;16344560;18029348;19582387;19764806;19834610;19889635;20379614;21131830;20801058;19875381;21184254;20811636;21626272;22863883;22939629;20360068;21738699;21139048;22316291;16009940;21044950;17620599;23000965;23265641;23398456 800 C9J813;C9JE79;C9JEK3;E7EX44;E9PGZ1;F5H1Z9;F8WE61;Q05682 AACC02000025;AB062484;ABBA01001111;ABBA01001112;AC019014;AC083870;AF247820;AF315788;AI926727;AJ223812;AK021691;AK022222;AK022456;AK289686;AK298524;AK300282;AK304729;AL601004;AMYH01017954;AU134367;BC005006;BC014035;BC015839;BC040354;BC061926;BF675655;BF965359;BQ010124;BU683034;BX538339;BX640946;BX648808;BX649088;CA433571;CA447404;CD359921;CH236950;CH471070;CK821334;CN314587;CS158819;CV573441;D90452;D90453;DA323544;DA546174;DB090561;M64110;M83216;NG_029186;NM_004342;NM_033138;NM_033139;NM_033140;NM_033157 AAA35636;AAA58419;AAA58420;AAF69498;AAH05006;AAH14035;AAH40354;AAH61926;BAA14418;BAA14419;BAB93509;BAF82375;BAG60727;BAG65492;BAH13250;CAD98104;CAI46261;CAJ29926;EAW83826;EAW83827;EAW83828;EAW83830;EAW83831;EAW83832;EAW83833;EAW83834;EAW83835;NP_004333;NP_149129;NP_149130;NP_149131;NP_149347;Q05682 Hs.490203 1648656;1648658;1664666;1673991;1701272;1706652;1768782;1846672;1853386;2121980;2131009;2168056;2178415;2178417;5022578;5024039;5024547;5037552 A005L07;CALD1;D16S325;D1S1423;D1S3698;D7S2330;D7S2751;D8S2279;G20301;GDB:1317196;GDB:4585525;RH104265;RH11457;RH16186;SHGC-34706;SHGC-82810;WI-17596;WI-9105 CDM;H-CAD;HCAD;L-CAD;LCAD;MGC21352;NAG22 OTTHUMP00000207948;OTTHUMP00000207949;OTTHUMP00000207950;OTTHUMP00000207952;OTTHUMP00000207953;OTTHUMP00000207954;OTTHUMP00000207955;OTTHUMP00000214473;caldesmon APPROVED protein-coding ENSG00000122786 1441 00251 114213 REVIEWED 1344788 CALML4 calmodulin-like 4 15 15 15 q23 45367956 45383362 - 66270097 66285502 - 68483043 68498448 - 6480464 16344560;14702039;12747765;12477932;23377640 91860 H3BM27;H3BM29;H3BS46;Q6MZY3;Q96GE6 ABBA01038785;AC107871;AF308287;AK092628;AK296804;AMYH01006736;BC009516;BC015215;BX640702;BX640817;CH471082;DB204573;NM_001031733;NM_033429 AAG48255;BAG59377;CAE45822;CAE45894;EAW77808;EAW77809;EAW77810;NP_001026903;NP_219501;Q96GE6 Hs.709550 1647814;1684345;2109165;2161399;2161627 CLN6_9860;RH91440;STS-N52768;STS-W81097;WI-18401 MGC4809;NY-BR-20 OTTHUMP00000164388;OTTHUMP00000194712;calmodulin-like protein 4;serologically defined breast cancer antigen NY-BR-20 protein-coding 18445 12998 VALIDATED 1346825 CALML6 calmodulin-like 6 1 1 1 p36.33 746319 748788 - 1836126 1838593 + 1846266 1848733 + 1580863;6907045 16710414;15621662;12477932;18029348 163688 B1AKR1;Q8TD86 ABBA01016077;AF490905;AL109917;AMYH01000160;AY566229;BC053567;CH471183;NM_138705 AAI60060;AAM08411;AAS67001;EAW56144;EAW56145;EAW56146;NP_619650;Q8TD86 Hs.85902 CAGLP EF-hand protein;OTTHUMP00000001117;OTTHUMP00000179025;calglandulin-like protein;calmodulin-like protein 6 protein-coding ENSG00000169885 24193 12997 610171 VALIDATED 1313562 CALML3 calmodulin-like 3 10 10 p15.1 5556924 5558225 + 5566924 5568225 + 1580863;6480464;6907045 8428750;19166543;18818677;17130134;16189514;15489334;15164054;12477932;12067719;11426940;11278607;8507643;8476923;3181418;2217169;1334432;16385451;19615732;22145905;21044950 810 P27482 ABBA01034777;AK313934;AL732437;AMYH01002002;BC031889;CH471072;FB335818;HH767157;M36707;M58026;NM_005185;X13461 AAA36356;AAH31889;ABM82702;ABM85886;BAG36653;CAA31809;CAR80870;CBX84343;EAW86443;NP_005176;P27482 Hs.239600 1743153 GDB:277110 CLP OTTHUMP00000019004;caM-like protein;calmodulin-like protein 3;calmodulin-related protein NB-1 protein-coding ENSG00000178363 1452 00244 114184 VALIDATED 736342 CALM2 calmodulin 2 (phosphorylase kinase, delta) 2 2 p21 47240809 47257154 - 47387221 47403740 - 1300048;2305981;6480464;6484113;6892958;6907045;7204676;7204677;7240705;7240708 10487978;22885997;10884684;18083096;22717267;23091085 17687619;16545345;16189514;15723066;15632291;15342556;15225611;14702039;14613930;12577052;12477932;12221128;12189141;12153558;12051765;12032157;11981030;11953448;11741295;11736632;11591728;11054265;10899953;10823944;10816571;10757985;10692436;10416864;9923700;9681195;9278050;9242710;8314583;8076819;3111527;2445749;2223880;11072229;8312049;21145461;8226798;9282777;17046994;16229872;10625668;9658102;8862395;8780394;9362478;8573130;9096366;11847276;16169070;21546767;19584346;20198394;20379146;20379614;16127172;21047202;19913121;20628086;17189291;21139048;21565611;21890473;21906983;21987572;21988832;22053931;22633975;23000965;23349634;23388215;23798571;22939629;20000738;10075700;16051665;20639865;21078624;21726808;21963094;22331908;22323446;17202341;18370588;18553937;20012528;20876399;20956522;21799007;22505724 805 B4DJ51;E7EMB3;F8WBR5;H0Y7A7;Q96HK3 ABBA01075153;AC073283;AI873701;AK055130;AK315694;AMYH01010321;AMYH01010322;BC003354;BC006464;BC008437;BC017385;BC018677;BC026065;BC047553;BP370358;BT009916;CH471053;CR541990;CR542021;D45887;M19311;NM_001743;U94725;U94726;U94727;U94728 AAA35641;AAC83174;AAH03354;AAH06464;AAH08437;AAH17385;AAH18677;AAH26065;AAP88918;AAY24085;BAA08302;BAG38057;CAG46787;CAG46818;EAX00220;EAX00221;EAX00222;EAX00223;NP_001734;P62158 Hs.468442 1742223;1746043;2121606;2158019 GDB:193857;RH125634;SHGC-30221;WI-9106 CALM1;CALM3;CAMII;FLJ99410;PHKD;PHKD2 LP7057 protein;OTTHUMP00000159070;OTTHUMP00000202341;OTTHUMP00000202343;caM;calmodulin;phosphorylase kinase delta;prepro-calmodulin 2 protein-coding ENSG00000143933 1445 00242 114182 VALIDATED 3399173 CALR4P calreticulin 4, pseudogene 1 1 1 p32.3 50306918 50334964 + 51789483 51833259 - 52020400 52035422 - 6480464 20210993 441884 ABBA01074794;AC104170;AL772260;AMYH01000616;NG_021361 pseudo 35456 INFERRED 1320724 CALML5 calmodulin-like 5 This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5471713 5472588 - 5530660 5531510 - 5540658 5541533 - 1580863;6480464;6907045 10777582;17353931;16765896;16689864;15489334;12477932;11969404;11407979;8125298;21145461;19615732;16196087;21139048;22145905;16934469 51806 Q53H37;Q9NZT1 ABBA01034777;AF172852;AK222744;AL732437;AMYH01002002;BC039172;CH471072;NM_017422 AAF66821;AAH39172;ADZ15995;BAD96464;EAW86444;NP_059118;Q9NZT1 Hs.180142 CLSP OTTHUMP00000019005;calmodulin-like protein 5;calmodulin-like skin protein APPROVED protein-coding ENSG00000178372 18180 05538 605183 REVIEWED 737387 CALM3 calmodulin 3 (phosphorylase kinase, delta) 19 19 q13.2-q13.3 51796352 51805879 + 47104512 47114039 + 1300048;2305981;6480464;6484113;6907045;7204676;7204677;7240705;7240708 10487978;10884684;18083096;22717267;23091085 15632291;2223880;9681195;11984006;7607248;10899953;16760425;9188442;9580552;10781589;19429631;18768750;16299511;15815621;15746192;15719022;15592455;15489334;15140941;14702039;14613930;12871148;12577052;12508121;12485993;12477932;12153558;12051765;12032157;11981030;11953448;11807546;11741295;11736632;11710561;11685248;11591728;11054265;10816571;10757985;10737800;10692436;10416864;9927666;9923700;9804419;9278050;8476923;8314583;7925473;7803388;7093203;6385987;3182832;3111527;2445749;2244899;1474585;11072229;8312049;8226798;9256481;17046994;16229872;10625668;9658102;8862395;8780394;9362478;8573130;9096366;11847276;11278607;17353931;21145461;10373510;10823944;11286509;11448995;12189141;12221128;12821674;14594800;14622581;14627618;14630798;14701808;14960328;15032605;15723066;16127172;16169070;16189514;17620599;17719545;19001277;20379146;6330098;6457647;8615909;8702940;9242710;10880439;19913121;20628086;21047202;22939629;21078624;21980498;20639865;21726808;21906983;21963094;21987572;19322201;22323446;18370588;18553937;19380743;20012528;20876399;20956522;21799007;22505724;18567582;8631777;23128233 808 B4DJ51;M0QZ52;Q96HK3;Q96HY3;Q9BRL5 ABBA01040980;AC093503;AK094964;AK295927;AK310762;AL050207;AMYH01009867;AW883334;BC005137;BC006182;BG753029;BT006855;CH471126;J04046;NM_005184;X52606;X52608 AAA51918;AAH05137;AAH06182;AAP35501;BAG58713;CAA36839;EAW57425;EAW57426;EAW57427;EAW57428;EAW57429;NP_005175;P62158 Hs.515487 2115359;2183963;2189473 MARC_7076-7077:992008234:1;NIB1538;RH11519 CALM1;CALM2;PHKD;PHKD3 OTTHUMP00000164793;OTTHUMP00000164794;caM;calmodulin;calmodulin 3;prepro-calmodulin 3 protein-coding ENSG00000160014 1449 00243 114183 VALIDATED 1314120 CALN1 calneuron 1 This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11 64619023 65251883 - 70882412 71515296 - 71244476 71877360 - 1580863;6480464 19338761;16344560;15489334;12853948;12690205;12477932;11286509;9847074;9110174;8619474;14702039;22837378;20379614;21926974 83698 A4D1Z1;E9PFU3;Q9BXU9 AACC02000048;AACC02000049;ABBA01063998;ABBA01063999;ABBA01064000;ABBA01064001;ABBA01064002;ABBA01064003;ABBA01064004;ABBA01064005;ABBA01064006;ABBA01064007;ABBA01064008;ABBA01064009;ABBA01064010;ABBA01064011;ABBA01064012;ABBA01064013;ABBA01064014;ABBA01064015;AC004845;AC004905;AC005011;AC006334;AC067941;AC092424;AC092785;AF282250;AK091485;AK094469;AK123862;AK313054;AL117636;AMYH01017527;AMYH01017528;AMYH01017529;AY007302;AY726595;BC020200;BG718538;CH236952;CH471140;DA101934;DA150825;DA805580;NM_001017440;NM_031468 AAG09620;AAH20200;AAK15155;AAP21872;AAP21889;AAS02041;AAS07466;AAS07507;ABM83066;ABM86260;BAG35885;BAG53974;EAL23970;EAX07901;EAX07902;NP_001017440;NP_113656;Q9BXU9 Hs.592750 1334667;1337127;1340458;1341086;1342170;1645683;1645685;1659733;1660782;1662784;1667776;1667923;1667925;1696488;1725549;1735714;1740009;1768597;1770506;1777189;1851919;1857574;2114152;2122357;2124026;2129966;2131898;2133684;2136500;2137329;2143861;2144400;2145591;2156358;2160406;2161619;2168783;2171267;2175424;7183772;7185353;7185430;7185497;7185536;7186011;7186154;7186740 A005B02;A006A08;A006O39;A007B21;D7S1483;D7S1497;D7S1499;D7S1511;D7S1607;D7S1776;D7S1816;D7S1843;D7S2025;D7S2161E;D7S2169E;D7S2393;D7S2415;D7S2633;D7S2933;D7S653;D7S672;G17123;G20236;G20644;GDB:1234276;GDB:1317540;GDB:1317622;GDB:1318633;GDB:3754362;GDB:3755065;RH119173;RH11992;RH44479;SHGC-32199;SHGC-4640;SHGC-79816;WI-19877;WI-21143;WI-21173 CABP8 OTTHUMP00000160216;OTTHUMP00000198477;OTTHUMP00000198493;OTTHUMP00000210382;OTTHUMP00000210383;calcium-binding protein 8;calcium-binding protein CABP8;calneuron I;calneuron-1 APPROVED protein-coding ENSG00000183166 13248 06209 607176 VALIDATED 1601759 CALY calcyon neuron-specific vesicular protein The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008] 10 10 q26.3 134988923 135000401 - 135138928 135150475 - 6480464 16595675;14534309;19352218;17885599;17623072;17081983;16172615;15489334;14755439;12477932;11583808;20602615;16385451;20468064;21415033;22843680 50632 Q9NYX4 ABBA01006212;AF225903;AL360181;AMYH01003235;AMYH01003236;AMYH01003237;BC038978;BI914942;BP392207;CH471211;NM_015722 AAF34714;AAH38978;EAW61334;EAW61335;NP_056537;Q9NYX4 Hs.148680 DRD1IP;NSG3;RP11-122K13.5 D1 dopamine receptor-interacting protein;OTTHUMP00000020793;OTTHUMP00000020795;calcyon D1 dopamine receptor-interacting protein (CALCYON);calcyon protein;dopamine receptor D1 interacting protein;neuron-specific vesicular protein calcyon APPROVED protein-coding ENSG00000130643 17938 06871 604647 VALIDATED 731618 CAMK1 calcium/calmodulin-dependent protein kinase I Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008] 3 3 p25.3 9774031 9786661 - 9799029 9811668 - 1580863;6480464 9395448;7641687;19086053;18089838;15680915;15489334;15367659;15251453;14754892;14507913;12935886;12665801;12630910;12539042;12477932;12475216;12237306;12193581;11395482;11114197;11081517;10874031;10571231;10400690;10187789;9822657;9705275;9662074;8384217;7559563;1375933;21249615;19844571;20468064;19913121;20628086;15166223;16767219;21832049;17442826;18184567;21791615;21139048;22318606;19100722;20433920;23028635 8536 B0YIY3;C9JES6;F8W6S9;H7C071;Q14012 AA724193;AB451277;AB451407;ABBA01020400;AC022382;AK314917;AMYH01012964;BC106754;BC106755;BI546222;CH471055;DN990042;EF444963;L41816;NM_003656 AAA99458;AAI06755;AAI06756;ACA05961;ACE87772;ACT64438;BAG37428;BAG70091;BAG70221;EAW63989;EAW63990;EAW63991;EAW63992;EAW63993;NP_003647;Q14012 Hs.434875 1658025;1709002;1788118;2131591;2159032 G67289;RH78923;SHGC-76687;SHGC-76689;SHGC-79567 CAMKI;MGC120317;MGC120318 OTTHUMP00000158527;caM kinase I alpha;caM-KI;caMKI-alpha;calcium/calmodulin-dependent protein kinase type 1;regulator of g-protein signalling 19 APPROVED protein-coding ENSG00000134072 1459 05412 604998 REVIEWED 731575 CALR calreticulin Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. [provided by RefSeq, Jul 2008] 19 19 p13.3-p13.2 12910423 12916303 + 13049414 13055304 + 1580863;704416;2326172;2326165;6480464;6907045;7204686 11907032;18563736;15289361;20356453 11149926;8107809;15474971;11842004;1911778;14726956;12242300;17563366;10581245;16130169;8107808;19580784;19470730;19154346;19100874;19054761;19050968;18925427;18791162;18653767;18641393;18559259;18417548;18221019;18177377;8006073;7923996;7876246;7622522;7592883;7559457;3260607;2400400;2365822;2332496;1939344;1919005;1733953;1286669;1286667;17353931;11765911;12052826;18022694;17982021;17959730;17947714;17655857;17499031;17390051;17009399;16974078;16951317;16951181;16542777;16527813;16522185;16236267;16140380;15952740;15893733;15855281;15634883;15596044;15494401;15489334;15383281;15371419;15351734;15236594;15057824;14985176;14980518;14732231;14624761;12821648;12740382;12704787;12646570;12584332;12538033;12477932;12397072;12383251;12362238;12324449;12239218;12235131;12196561;12147682;12065601;11891802;11825569;11378243;11327697;11322874;10887119;10547375;10513896;10508608;10436013;10364189;10358038;9988700;9693955;9671507;9545232;9525969;9359841;9312001;9150948;9089287;9036970;8910335;8904349;8805302;8769474;8662691;8550632;8537405;8418194;8125298;8062452;8050453;22024156;22511615;22844112;10929008;18303019;18795239;20929309;20480531;20699648;20855873;17055437;17215244;18765291;18801343;19524015;19567621;19608864;19684620;7841019;8666824;16522924;21115737;19760677;20861015;19913121;20624402;20628086;19659458;20533543;11859136;21178137;21075854;20834237;21142150;22863883;9427624;21423620;21447409;15998798;23464991;23564462;23667531;20000738;21652723;21182888;21139048;21693764;21890473;21906983;21911577;18029348;21996511;20360068;21723904;21900206;22079093;22492046;22377355;22429966;22507216;22586326;19322201;22083347;22415851;22661095;22915645;22939629;21319273;22415225;12047747;23587357;23222517;10198260;23334957;22304920;23000965;23233327;22174317;22190034;22242185;22773372;22952844 811 K7EJB9;K7EL50;K7ELE2;K7EM77;P27797 AB451408;ABBA01029763;AC092069;AD000092;AF087986;AK130190;AK223060;AK295230;AK304492;AMYH01009497;AY047586;BC002500;BC007911;BC020493;BC107102;BT007448;CH471106;CR457070;CS288581;JA462404;M32294;M84739;NG_029662;NM_004343 AAA36582;AAA51916;AAB51176;AAH02500;AAH07911;AAH20493;AAL13126;AAP36116;BAD96780;BAG58223;BAG65301;BAG70222;CAG33351;CAK18761;CCD35250;EAW84330;EAW84331;EAW84332;NP_004334;P27797 Hs.515162 2134870;2217102 CALR_3945;STS-M84739 CRT;FLJ26680;RO;SSA;cC1qR CRP55;ERp60;HACBP;Sicca syndrome antigen A (autoantigen Ro; calreticulin);autoantigen Ro;calregulin;calreticulin;endoplasmic reticulum resident protein 60;grp60 APPROVED protein-coding ENSG00000179218 1455 00169 109091 REVIEWED 1319475 CALR3 calreticulin 3 The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011] 19 19 19 p13.11 16491740 16508840 - 16450887 16468003 - 16589868 16607003 - 1580863;6480464 12384296;17975137;15489334;15342556;14702039;12477932;16159877;21590275 125972 M0R0Y8;Q96L12 AA724299;AA910019;AB576176;ABBA01051147;ABBA01051148;AC008764;AK058084;AMYH01009562;BC014595;BP370084;CH471106;CS288583;DB459545;DB510196;NG_031959;NM_145046 AAH14595;ABM81829;ABM84982;BAB71655;BAJ14705;CAK18762;EAW84546;NP_659483;Q96L12 Hs.304020 CMH19;CRT2;CT93;FLJ25355;MGC26577 calreticulin 2;calreticulin-2;calreticulin-3;calsperin;cancer/testis antigen 93 APPROVED protein-coding ENSG00000269058 20407 12999 611414;613875 REVIEWED 1603628 CAMK1D calcium/calmodulin-dependent protein kinase ID This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 10 10 p13 12431589 12911741 + 12391583 12871735 + 6480464 11264466;19383354;19324937;19139842;19020324;19020323;18372903;15840691;15489334;15164054;12935886;12477932;11050006;20571754;20677014;16385451;18029348;19602701;19670153;19720844;19741467;19794065;19833888;19933996;20080650;20161779;20379614;20418484;20862305;20712903;20879858;20889853;20927120;21832049;22923468;16324104;17056143;23824909;22863883;23568457;19953087;21909839;21044950;21988832;23251661;23459443 57118 Q5SQQ7;Q8IU85 AB081726;ABBA01034637;ABBA01034638;ABBA01034639;ABBA01034640;ABBA01034641;ABBA01034642;ABBA01034643;ABBA01034644;ABBA01034645;ABBA01034646;ABBA01034647;ABBA01034648;ABBA01034649;ABBA01034650;ABBA01034651;ABBA01034652;AF286366;AI821714;AK289393;AL391314;AL512284;AL512783;AL603717;AL731559;AMYH01002033;AMYH01002034;AMYH01002035;AMYH01002036;AMYH01002037;BC035745;BQ059621;BU542765;CH471072;EF444962;HH961742;NM_020397;NM_153498 AAG00534;AAH35745;ABM83390;ABM86602;ACA05958;ACA05959;ACA05960;BAC19846;BAF82082;CBX51344;EAW86314;EAW86315;EAW86316;NP_065130;NP_705718;Q8IU85 Hs.659517 1299918;1334518;1336187;1648563;1655838;1674492;1708180;1709808;1730277;1754025;1757919;1764799;1765995;1777671;1779344;1781966;2141195;2179457;5022322;7184706;7186556 D10S1430;D10S1705;D10S2325;D10S2365;D10S236E;D11S2560;G17442;GDB:315097;RH47896;SHGC-132068;SHGC-141926;SHGC-146855;SHGC-148366;SHGC-149390;SHGC-153341;SHGC-32225;SHGC-6785;SHGC-79342;SHGC-84721 CKLiK;CaM-K1;CaMKID CaM kinase ID;CamKI-like protein kinase;OTTHUMP00000019119;OTTHUMP00000019120;caM kinase I delta;caM-KI delta;caMKI delta;calcium/calmodulin-dependent protein kinase type 1D APPROVED protein-coding ENSG00000183049 19341 06409 607957 REVIEWED 733017 CALU calumenin The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 7 7 q32.1 128166672 128198764 + 128379346 128413477 + 1580863;2316232;6480464 18776587 12477932;11827452;11230166;11076863;10631319;10222138;9675259;9598325;10094503;9218460;17596133;17189218;17081983;17081065;17049586;17048007;16964243;16381901;16344560;16303743;15489336;15489334;14702039;12690205;12665801;12643545;18029348;18688696;19794411;19958090;20020283;20149073;20200517;20499136;22188360;21057703;19913121;20553802;20628086;20673165;22939629;22863883;20360068;21139048;21890473;21906983;22514732;22190034;22768251 813 B3KQF5;H0Y875;O60456;Q6IAW5 AACC02000035;ABBA01057656;AC024952;AF013759;AF257659;AF345637;AK027460;AK056338;AK074862;AK075089;AK312446;AMYH01017924;AW068942;BC013383;BF438624;BT006826;BT020143;BX091230;CH236950;CH471070;CR457039;CR541835;DA023987;DA703012;HM002604;HM002605;HM002606;HM002607;HM002609;HM002610;HM002611;HM002613;HM002615;HM002616;NG_033110;NM_001130674;NM_001199671;NM_001199672;NM_001199673;NM_001199674;NM_001219;NR_074086;U67280 AAB97725;AAC17216;AAF76141;AAH13383;AAK72908;AAP35472;AAV38945;ABM83159;ABM86360;ADG45004;ADG45005;ADG45006;ADG45007;ADG45009;ADG45010;ADG45011;ADG45013;ADG45015;ADG45016;BAG35353;BAG51328;BAG51681;BAG52017;BAG52065;CAG33320;CAG46634;CAL37464;CAL37467;CAL37505;CAL37557;CAL37588;CAL37696;CAL37834;CAL37878;CAL37907;CAL37987;CAL38060;CAL38141;CAL38267;CAL38335;CAL38634;CAL38691;EAL24113;EAW83674;EAW83675;EAW83676;EAW83677;EAW83678;EAW83679;NP_001124146;NP_001186600;NP_001186601;NP_001186602;NP_001186603;NP_001210;O43852 Hs.743262;Hs.7753 1645033;1651881;1661898;1662194;1679934;1770183;1775395;1855479;1855481;2106795;2106797;2157114;2162104;2173773;2176856;2178426;2181468;5093314;5491419 A002N36;A006B29;A009L17;G20679;G32645;MARC_11525-11526:1001518036:1;RH12835;RH44842;RH45162;RH48732;RH64944;RH66822;SHGC-35138;SHGC-52887;STS-H01049;STS-M13299;STS-N32527;UniSTS:464721;UniSTS:464722 FLJ90608 IEF SSP 9302;OTTHUMP00000212712;OTTHUMP00000212713;OTTHUMP00000212714;OTTHUMP00000212715;calumenin;crocalbin;crocalbin-like protein;multiple EF-hand protein;reticulocalbin APPROVED protein-coding 1458 04569 603420 REVIEWED 736752 CAMK2A calcium/calmodulin-dependent protein kinase II alpha The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008] 5 5 q32 149579248 149649529 - 149599054 149669403 - 1580863;6480464;6484113;6907045;7240705;7240704 22717267;22334212 14684825;22573680;18227124;17632540;17627985;17603807;17221287;16820363;16565089;16557530;16436603;16247765;16120608;16115892;15866054;15673434;15621017;15358237;15312654;15140879;15044063;14970204;14722083;12954639;12951199;12933808;12630910;12486117;12477932;12475968;12435421;12408851;12387894;12223541;17052756;19453375;19328558;19156168;18305109;12147342;11930170;11889801;11867691;11814622;11751951;11710563;11468283;11459059;11447121;11331285;11306676;11278737;11264466;11222640;11160423;11104776;11027280;10874031;10862698;10861222;10851169;10753652;10737800;10737616;10629061;10400690;10347170;10318869;10231032;10090741;9832145;9771888;9735171;9724800;9452388;9452387;9115241;9099667;8999860;8980240;8940188;8413226;7929371;7822264;7706316;7523419;3475713;2394752;2164678;2155236;2114109;1375933;1374067;1314426;1309762;11679592;8663317;12871946;17353931;18803808;10373510;11013247;12815021;14622581;18218981;18311135;19638347;20053885;20379614;8615909;8665664;9481670;9813144;12619878;18292392;21124984;17512525;22505582;22815963;22939629;23260144;19213956;21611732;17568776;21610080;11397791;21906983;22360420;22023388;20178748;22318606;22427672;22496558;22496345;15757646;22939624;23000965;23251661;16027165;17202341;21315782;22514303 815 A8K161;D6RFJ0;D6RHX9;Q7LDD5;Q8IWE0;Q9UQM7 AB023185;ABBA01026282;ABBA01026283;AC011372;AF091486;AF145710;AF145711;AK289776;AK308853;AMYH01015706;AY429524;BC040457;BF951952;CH471062;NM_015981;NM_171825 AAD30558;AAD30559;AAD55815;AAH40457;ACE86769;ACE87455;BAA76812;BAF82465;EAW61741;EAW61742;NP_057065;NP_741960;Q9UQM7 Hs.743976 1654846;1660904;1780608;1795468;2147676;2172992;2187811;5123329 1954;CAMK2A__1170;D17S1195;G69463;RH11735;RH35759;WI-16284;bac51383T CAMKA;KIAA0968 CaM kinase II alpha subunit;CaM-kinase II alpha chain;CaMK-II alpha subunit;CaMKIINalpha;OTTHUMP00000165787;OTTHUMP00000165788;caM kinase II subunit alpha;caMK-II subunit alpha;calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha;calcium/calmodulin-dependent protein kinase II alpha-B subunit;calcium/calmodulin-dependent protein kinase type II alpha chain;calcium/calmodulin-dependent protein kinase type II subunit alpha APPROVED protein-coding ENSG00000070808 1460 06532 114078 REVIEWED 732495 CAMK1G calcium/calmodulin-dependent protein kinase IG This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008] 1 1 1 q32.2 182987934 183018193 + 207823668 207853907 + 209757045 209787284 + 6480464 16710414;15489334;14702039;12637513;12477932;10645953;19913121;20628086;20729199;21988832;22939624;23455922;23624525;22623531;21935397 57172 C9IYV2;Q96NX5 ABBA01048215;AF428261;AK095713;AK289675;AL023754;AL049688;AMYH01001696;AY212935;BC032787;BG715920;CH471100;NM_020439 AAH32787;AAL28100;AAP29964;ABM82986;ABM86179;BAF82364;BAG53112;CAB41259;EAW93450;EAW93451;EAW93452;NP_065172;Q96NX5 Hs.199068 1734344;5110253 D1S70;L461 CLICK3;CLICKIII;VWS1;dJ272L16.1 CLICK III;OTTHUMP00000034556;OTTHUMP00000034557;OTTHUMP00000034558;caM kinase I gamma;caM kinase IG;caM-KI gamma;caMK-like CREB kinase III;caMKI gamma;caMKIG;calcium/calmodulin-dependent protein kinase type 1G APPROVED protein-coding ENSG00000008118 14585 10807 614994 REVIEWED 1602218 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 1 1 1 p36.12 19133214 19137058 - 20681471 20685315 - 20808884 20812728 - 6480464;7240706;7240707 21070840;21301225 18305109;12650977;12477932;12175859;19322201 55450 Q7Z7J9;Q9P1J2 ABBA01059780;ABBA01059781;AL391357;AMYH01000322;AY204901;BC020630;BI820748;CH471134;DB475389;NM_018584 AAH20630;AAO49802;EAW94923;EAW94924;NP_061054;Q7Z7J9 Hs.731383 1660465;1665755;2126234;2138161;2143396 HSC1IC062;SHGC-35895;SHGC-74338;SHGC-74339;SHGC-74356 MGC22256;PRO1489;RP11-401M16.1 CaMKIINalpha;OTTHUMP00000002879;caMKII inhibitory protein alpha;caMKIIN-alpha;calcium/calmodulin-dependent protein kinase II inhibitor 1 protein-coding ENSG00000162545 24190 13112 614986 VALIDATED 732268 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 182417767 182420015 - 185459697 185461945 - 183977003 183979251 - 6480464;7240706;7240707 21070840;21301225 12531901;12477932;11444830;9724800;22087225;19586909;20487031;22472876;23153928 94032 Q96S95 ABBA01058450;ABBA01058451;AC061705;AC078797;AMYH01013714;AMYH01013715;AY037149;BC105077;BC105079;CH471052;NM_033259 AAI05078;AAI05080;AAK67630;EAW78280;EAW78281;NP_150284;Q96S95 Hs.585003 2112582;2169422;5493297;5493941 D3S4350;RH12612;UniSTS:480474;UniSTS:485633 CAM-KIIN;CAMKIIN CaM-KII inhibitory protein;OTTHUMP00000210693;calcium/calmodulin-dependent protein kinase II inhibitor 2 APPROVED protein-coding ENSG00000163888 24197 16377 608721 REVIEWED 1604851 CAMK2G calcium/calmodulin-dependent protein kinase II gamma The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011] 10 10 q22 75242265 75304349 - 75572259 75634349 - 6480464;6484113;6907045;7240705 22717267 9060999;9240463;11264466;19204726;19001023;18483256;18434368;17553505;17431504;17373700;17192257;17081983;17032905;16436603;16002660;15775983;15322115;15164054;14963018;14722083;14702039;14532276;12808093;12637327;12609872;12554746;12486117;12477932;12032636;11972023;11889801;11839738;11825621;11535587;11398101;11359875;11325525;11160423;11108966;11080189;11027280;10860555;10748018;10693762;10625670;10366608;10347170;10212259;9768837;9721757;9677319;9407043;9355737;9224693;9115241;8798667;8663317;8449910;8404858;8380342;8287681;8125298;7877986;7876254;7690989;7557101;7543024;6150037;3118371;2160950;1309762;11290523;20851109;10373510;11013247;12815021;14622581;16120608;16385451;18218981;18311135;19603549;19615732;19671701;19682070;19840793;20060891;20139089;20149311;8615909;8665664;9481670;22612808;19913121;20628086;21063097;21513986;22952977;15294044;17568776;21983898;22623531;23502535;23008441;18781797;21139048;21906983;22049206;22371496;21145461;22592532;22615928;11559703;22939624;23000965;23074277;9670010;22505724 818 B4DVQ3;H0Y6G2;Q13280;Q5SWX3;Q5SWX4;Q8WU40 AB209474;ABBA01020305;ABBA01020306;ABBA01020307;ABBA01020308;AC022400;AK026309;AK094774;AK095576;AK131199;AK225771;AK291704;AK301180;AL596247;AL713896;AMYH01002831;AMYH01002832;AMYH01002833;BC012795;BC021269;BC034044;BC037928;BU165166;CH471083;L07043;L07044;NG_029408;NM_001204492;NM_001222;NM_172169;NM_172170;NM_172171;NM_172173;U32472;U32473;U32509;U50359;U50360;U66063;U66064 AAA75201;AAA75202;AAA75203;AAB16864;AAB16865;AAB61379;AAB80847;AAB80848;AAH21269;AAH34044;ABM83291;ABM86500;ABM87691;BAD92711;BAF84393;BAG53089;BAG54748;BAG62765;EAW54527;EAW54528;EAW54529;EAW54530;EAW54531;EAW54532;EAW54533;EAW54534;EAW54535;EAW54536;EAW54537;EAW54538;EAW54539;EAW54540;EAW54541;EAW54542;EAW54543;NP_001191421;NP_001213;NP_751909;NP_751910;NP_751911;NP_751913;Q13555 Hs.523045 1338862;1672432;1696568;1758631;1758633;1781890;2111055;5014051;5021872;5022200;5022578;5022651;5037552;5109281;5118444 D10S1737;D10S483E;D11S2921;D11S3316;D1S1423;D1S1425;D8S2278;D8S2279;L18426;SHGC-106444;SHGC-148964;SHGC-148965;SHGC-78184;WI-12185;sY3084 CAMK;CAMK-II;CAMKG;FLJ16043;MGC26678 OTTHUMP00000019843;OTTHUMP00000019844;OTTHUMP00000019845;OTTHUMP00000019846;OTTHUMP00000019847;caM kinase II subunit gamma;caMK-II subunit gamma;calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma;calcium/calmodulin-dependent protein kinase type II subunit gamma APPROVED protein-coding ENSG00000148660 1463 03672 602123 REVIEWED 1349409 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 p13.2 3710358 3743086 - 3763609 3796337 - 1580863;2311420;6480464 16054095 18270593;16741161;15489334;15324660;12935886;12628440;12477932;11574070;11230166;10833263;10560916;10187789;9705275;8621423;7642608;7615569;15591024;18695047;19247474;19520843;20106900;20453000;21832049 84254 F8W9H1;J3KPJ3;Q8N5S9 ABBA01054749;ABBA01054750;AC005940;AF370377;AF425232;AF425301;AK128601;AL136576;AMYH01008033;BC011401;BC031647;BC043487;CH471108;NM_032294;NM_172206;NM_172207 AAH31647;AAH43487;AAN37386;AAN37387;AAQ15213;ABM83347;ABM86561;CAB66511;EAW90474;EAW90475;EAW90476;NP_115670;NP_757343;NP_757344;Q8N5S9 Hs.8417 1717761;2170149;2170151;2175956;5014051;5015619;5016478;5021872;5022463;5022651;5037552;5092454 A005P11;D11S2921;D11S3114;D3S1673;D8S2278;D8S2279;G20392;G54292;GDB:434012;RH121788;SHGC-32989;sY3084 CAMKKA;DKFZp761M0423;MGC34095 CAMKK alpha protein;OTTHUMP00000115903;OTTHUMP00000115904;OTTHUMP00000115905;caM-KK 1;caM-KK alpha;caM-kinase IV kinase;caM-kinase kinase 1;caM-kinase kinase alpha;caMKK 1;calcium/calmodulin-dependent protein kinase kinase 1;calcium/calmodulin-dependent protein kinase kinase alpha APPROVED protein-coding ENSG00000004660 1469 13000 611411 REVIEWED 735326 CAMK2B calcium/calmodulin-dependent protein kinase II beta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Eight transcript variants encoding eight distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 p14.3-p14.1 44225416 44331749 - 44256749 44365230 - 1580863;6480464;6484113;6907045;7240705;7240704 22717267;22334212 9060999;19156168;19058789;18302935;17419996;16436603;16381901;16344560;16247765;16185778;16126727;15792370;15665723;15489336;15489334;15312654;15199064;14722083;14702039;14565989;12853948;12690205;12496285;12477932;12475968;12147342;11889801;11867691;11751951;11710563;11468283;11325525;11306676;11160423;11076863;11042361;10858498;10819240;9724800;9115241;9110174;8940188;8619474;8125298;7758473;3417668;2842767;17353931;10373510;11013247;12815021;14622581;15604093;18218981;18311135;20379614;8615909;9481670;8665664;21479273;12619878;21884935;15294044;18817731;21871176;20178748;21610080;21139048;21906983;22399527;21988832;22750393;22939624;23000965;23275563;17202341;22505724 816 A4D2J9;B7Z1Z6;E7EQE4;E7ERS6;E7ETC9;E9PBE8;H7BXS4;H7BZC6;H7C394;Q9UP00 AA399393;AACC02000110;AB073352;ABBA01058215;ABBA01058216;ABBA01058217;AC006454;AC093086;AC106040;AF078803;AF081572;AF081924;AF083419;AF112471;AF112472;AF131776;AF140350;AI190315;AJ252236;AJ252237;AJ252238;AK091991;AK222703;AK290148;AK294138;AK315663;AMYH01017209;BC019070;BI550751;BX445032;CH236960;CH471128;DA069361;DB175099;DB566810;NG_029407;NM_001220;NM_172078;NM_172079;NM_172080;NM_172081;NM_172082;NM_172083;NM_172084;U23460;U50358 AAB16863;AAC99802;AAD03743;AAD03744;AAD42035;AAD42036;AAD42037;AAD42038;AAD42070;AAH19070;AAS02024;AAS07454;BAD96423;BAF82837;BAG38029;BAH11682;CAB65120;CAB65121;CAB65122;CAL37627;CAL37670;CAL38439;CAL38692;EAL23755;EAL23756;EAL23757;EAL23758;EAL23759;EAL23760;EAL23761;EAL23762;EAW61104;EAW61105;EAW61106;EAW61107;EAW61108;EAW61109;NP_001211;NP_742075;NP_742076;NP_742077;NP_742078;NP_742079;NP_742080;NP_742081;Q13554 Hs.351887 1647837;1704772;1758075;1786466;1855772;2163188;2173183 D7S2140E;D7S2630;GDB:1318018;SHGC-147284;SHGC-172651;SHGC-32552;SHGC-79851 CAM2;CAMK2;CAMKB;MGC29528 CaM kinase II beta subunit;CaM-kinase II beta chain;OTTHUMP00000025109;OTTHUMP00000159355;OTTHUMP00000159356;OTTHUMP00000159440;OTTHUMP00000159441;OTTHUMP00000159442;OTTHUMP00000159443;OTTHUMP00000209343;OTTHUMP00000209344;OTTHUMP00000214130;OTTHUMP00000225913;caM kinase II subunit beta;caMK-II subunit beta;calcium/calmodulin-dependent protein kinase (CaM kinase) II beta;calcium/calmodulin-dependent protein kinase ii beta subunit;calcium/calmodulin-dependent protein kinase type II beta chain;calcium/calmodulin-dependent protein kinase type II subunit beta;proline rich calmodulin-dependent protein kinase APPROVED protein-coding ENSG00000058404 1461 12127 607707 REVIEWED 736174 CAMK2D calcium/calmodulin-dependent protein kinase II delta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008] 4 4 q26 114593021 114902177 - 114372188 114683083 - 1580863;6480464;6484113;6907045;6907065;7240705;7240708 20638246;22717267;23091085 9060999;11264466;19132087;18218981;17192257;17179159;17081983;16436603;16344560;16185778;15489334;15345747;14722083;14702039;12477932;12145273;11972023;11889801;10852918;10819240;10525155;10189359;9847074;9692886;9165051;9115241;8404858;17353931;10373510;11013247;12815021;14622581;16120608;18311135;18832449;19615732;20332099;20379614;8615909;8665664;9481670;20442409;20668654;20814023;16767219;22270398;12676814;17157285;19482609;21447778;21491429;17620599;22623531;18457437;21139048;21890473;21906983;21150319;21988832;22939624;23000965;23283722;23218918 817 D6R938;E9PBG7;E9PF82;H0Y9C2;H0Y9J2;Q13557 AB209288;ABBA01063833;ABBA01063834;AC004056;AC004168;AC093900;AC107386;AF071569;AI004608;AI057019;AJ252239;AK025368;AK055642;AK294517;AL120285;AMYH01014474;AY987011;BC022558;BC032784;BX538071;BX647363;CA416772;CF551834;CH471057;DA113081;EF139846;NM_001221;NM_172114;NM_172115;NM_172127;NM_172128;NM_172129;U50361;U73738 AAB16866;AAB18327;AAD20442;AAH22558;AAH32784;AAX88806;ABM86181;ABW03692;BAD92525;BAG51545;BAH11796;CAB65123;EAX06295;EAX06296;EAX06297;EAX06298;EAX06299;EAX06300;EAX06301;NP_001212;NP_742112;NP_742113;NP_742125;NP_742126;NP_742127;Q13557 Hs.144114 1338395;1643907;1646019;1646021;1663537;1667157;1674157;1675692;1682772;1715021;1735404;1848827;1850468;1857648;2111143;2117910;2123851;2125003;2128949;2135719;2141589;2145774;2156343;2179941;2187384;5093620;5094022;5494159;7187551 A009S43;A010A47;D4S1366;D4S1497E;D4S1611;D4S2577E;D4S3165;D4S3167;D4S448;D4S967;EST02144;G32826;G33061;RH120847;SHGC-23829;SHGC-23830;SHGC-24808;SHGC-30317;SHGC-30731;SHGC-50558;SHGC-50970;SHGC-58101;SHGC-67300;SHGC-8542;SHGC-8607;STS-H54295;STS-R98767;fb62d09.x1 CAMKD;DKFZp686G23119;DKFZp686I2288;MGC44911 CaM kinase II delta subunit;CaM-kinase II delta chain;CaMK-II delta subunit;OTTHUMP00000163829;OTTHUMP00000163830;OTTHUMP00000163831;OTTHUMP00000220381;OTTHUMP00000220382;OTTHUMP00000220383;OTTHUMP00000220385;OTTHUMP00000220386;OTTHUMP00000220389;caM kinase II subunit delta;caMK-II subunit delta;calcium/calmodulin-dependent protein kinase (CaM kinase) II delta;calcium/calmodulin-dependent protein kinase ii, delta;calcium/calmodulin-dependent protein kinase type II delta chain;calcium/calmodulin-dependent protein kinase type II subunit delta APPROVED protein-coding ENSG00000145349 1462 09653 607708 REVIEWED 731356 CAMK4 calcium/calmodulin-dependent protein kinase IV The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008] 5 5 q21.3 110587981 110848648 + 110559947 110820749 + 734683;1580863;734684;6480464;6907045 10932193;11572782 8089075;18029348;19538941;19386606;19017650;19001277;18829949;18660489;18606955;18053176;17909078;17903302;17192257;15841182;15840651;15680915;15665723;15591024;15489334;15143065;14701808;12630910;12477932;12065094;11970865;11470791;11395482;11274168;10874031;10681496;10617605;9822657;9705275;9154845;8702940;8621423;8194751;8107230;7615569;2536634;2011593;1375933;15902271;10400690;21514275;21612516;19436069;19506079;19633294;20171262;20378615;20379614;16344560;20677014;23535033;18930438;8855261;19953087;21139048;23049845;22897820;22939624;23103515;19100722 814 D6RCD6;D6RE65;D6REY7;Q16566 ABBA01069071;AC010275;AC010468;AC011422;AK311662;AK312840;AL833368;AMYH01015545;AMYH01015546;BC016695;BC025687;BG721313;CH471086;D30742;DA396146;L17000;L24959;NM_001744 AAA18251;AAA35639;AAH16695;AAH25687;ABM83828;ABM84121;ABM84122;ABM87522;ABM87523;ABM87524;ABM87525;BAA06403;BAG35694;EAW49032;EAW49033;EAW49034;NP_001735;Q16566 Hs.591269 1646776;1647015;1665321;1717151;1739057;1739061;1739069;1750835;1754827;1772136;2107907;2147714;2170330 CAMK4_8239;D5S1778;D5S1780;D5S1785;D5S2448;RH11450;RH121498;RH36049;RH36499;RH69019;SGC35247;SHGC-104500;SHGC-141749 CaMK IV;CaMK-GR;IV;MGC36771;caMK CAM kinase IV;CAM kinase- GR;OTTHUMP00000159000;OTTHUMP00000222818;brain Ca(2+)-calmodulin-dependent protein kinase type IV;brain Ca++-calmodulin-dependent protein kinase type IV;caM kinase-GR;caMK IV;calcium/calmodulin-dependent protein kinase type IV;calcium/calmodulin-dependent protein kinase type IV catalytic chain APPROVED protein-coding 1464 07169 114080 REVIEWED 1605634 CAMKMT calmodulin-lysine N-methyltransferase This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012] 2 2 2 p21 44427993 44838447 + 44442607 44853233 + 44589043 44999731 + 6480464 18234729;16344560;12477932;19575798;20200953;20379614;17207965;20975703;21832049;23349634;19322201;22610502;20881960;23285036 79823 B5MC16;B5MC79;H7C2N4;H7C2T0;H7C3B0;Q7Z624 ABBA01075107;ABBA01075108;ABBA01075109;ABBA01075110;ABBA01075111;ABBA01075112;ABBA01075113;ABBA01075114;ABBA01075115;ABBA01075116;AC012455;AC016703;AC019184;AC067957;AI933944;AK027104;AMYH01010305;AMYH01010306;BC029359;BC053733;CH471053;DA760277;DB461740;NG_032944;NM_024766 AAH29359;AAH53733;AAX88866;AAX93163;ADQ32074;BAB15658;EAX00272;EAX00273;EAX00274;NP_079042;Q7Z624 Hs.468349 1664466;1668498;1672490;1705402;1705580;1707088;1708566;1711254;1726917;1727743;1734214;1734216;1734218;1789560;1856133;2114677;2137644;2158280;2160949;2164561;2185891;5019837;5093742 A009V46;A010A13;AFM210XE9;D2S1485;D2S1486;D2S1487;D2S1830;D2S4016;G32897;G33043;G62702;G63136;RH10992;RH16227;RH47074;RH69636;SHGC-10607;SHGC-81302;SHGC-83564;SHGC-83898;SHGC-84990;SHGC-85069;WI-18144 C2orf34;CLNMT;CaM KMT;Cam;FLJ23451;KMT OTTHUMP00000158959;calmodulin methyltransferase;calmodulin-lysine N-methyltransferase;hypothetical protein LOC79823 APPROVED protein-coding ENSG00000143919 26276 08028 609559 REVIEWED 1321992 CAMSAP1 calmodulin regulated spectrin-associated protein 1 9 9 9 q34.3 109218269 109316951 - 137841248 137914570 - 138700333 138799005 - 737633;6480464 12477932 14702039;19508979;21890473 157922 Q9P1D5;Q9UFJ5 ABBA01030047;ABBA01030048;AF116701;AJ420438;AJ519841;AK025533;AK055790;AL117634;AL158822;AL353636;AL355574;AL834528;AMYH01021850;AMYH01021851;AW448941;BC010646;BC012778;BC040549;BC130580;BC144082;BU949503;CH471090;NM_015447 AAF71121;AAH10646;AAH12778;AAI30581;AAI44083;CAB56024;CAD39184;CAD58627;EAW88183;EAW88184;EAW88185;EAW88186;NP_056262;Q5T5Y3 Hs.522493 1662017;1668288;1735900;1735914;1775683;1786890;1787130;2114573;2116049;2125177;2137593;2157856;2158180;2181995;2181997 A004G46;A005O30;D9S1042E;D9S1053E;D9S1146;G20380;RH18182;RH70341;RH78822;SGC30172;SHGC-101598;SHGC-155357;SHGC-36022;STS-R16148;WI-20957 DKFZp434F195;DKFZp434G2311;FLJ31228;MGC163452;PRO2405;RP11-100C15.2;bA100C15.1 OTTHUMP00000022559;OTTHUMP00000202115;OTTHUMP00000202116;bA100C15.1 (novel protein);calmodulin-regulated spectrin-associated protein 1 protein-coding ENSG00000130559 19946 13001 613774 VALIDATED 737324 CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012] 12 12 q24.2 120159878 120220494 - 121675495 121736111 - 2311420;6480464;6484113 16054095 22654108;11395482;18436530;17197037;16880506;16673375;16247765;16054096;15489334;12935886;12477932;12168954;9872452;9822657;9662074;12628440;10187789;16344560;18029348;19407487;19667195;19763792;19958286;20018878;20379614;21084482;20562859;21832049;23027865;21670147;17043677;21807092;19953087;21890473;21906983;21669867;21957496;22939624;23110126;18976975;22778263 10645 F5GZ00;F5H360;F5H4I7;J3KPZ9;Q9Y5N2 AA678930;AB018330;AB081336;AB081337;ABBA01020153;ABBA01020154;ABBA01020155;ABBA01020156;ABBA01020157;AC069209;AF091074;AF101264;AF140507;AF287630;AF287631;AF321385;AF321386;AF321387;AF321388;AF321389;AF321401;AF321402;AF425668;AI612762;AK024748;AK292072;AK300865;AL834322;AMYH01004811;BC000318;BC026060;BF972593;CH471054;DA075361;NG_029409;NM_001270485;NM_001270486;NM_006549;NM_153499;NM_153500;NM_172214;NM_172215;NM_172216;NM_172226;U87803 AAC72943;AAD04566;AAD31507;AAH00318;AAH26060;AAK64600;AAK64601;AAK91829;AAK91830;AAL37215;AAL37216;AAL37217;AAL37218;AAN37388;ABM84336;ABM87784;BAA34507;BAC19840;BAC19841;BAF84761;BAG62514;CAD38990;EAW98247;EAW98248;EAW98249;EAW98250;EAW98251;EAW98252;EAW98253;EAW98254;EAW98255;EAW98256;EAW98257;EAW98258;NP_001257414;NP_001257415;NP_006540;NP_705719;NP_705720;NP_757363;NP_757364;NP_757365;NP_757380;Q96RR4 Hs.297343 1653567;1736296;1746515;1746563;1768650;1848161;1848163;2106817;2106819;2106821;2106823;2106825;2165736;2170322;2174688;5022578 A001Z45;D12S1241E;D1S1423;G19833;G64570;G64571;HSC2OG072;PG2S01;PG2S02;PG2S09;PG2S15;PG2S5UT01;RH11188;RH11255;SGC32416;WI-15135 CAMKK;CAMKKB;KIAA0787;MGC15254 CAMKK beta protein;OTTHUMP00000240235;OTTHUMP00000240236;OTTHUMP00000240237;OTTHUMP00000240238;OTTHUMP00000240239;OTTHUMP00000240241;OTTHUMP00000240242;OTTHUMP00000240244;OTTHUMP00000240245;ca+/calmodulin-dependent protein kinase kinase beta (cam-kinase kinase beta);caM-KK 2;caM-KK beta;caM-kinase kinase 2;caM-kinase kinase beta;caMKK 2;calcium/calmodulin-dependent protein kinase beta;calcium/calmodulin-dependent protein kinase kinase 2;calcium/calmodulin-dependent protein kinase kinase beta APPROVED protein-coding ENSG00000110931 1470 06467 615002 REVIEWED 6481052 CAMTA1-IT1 CAMTA1 intronic transcript 1 (non-protein coding) 100874340 Z97987 miscrna 41446 1347931 CAMLG calcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008] 5 5 q23 134102105 134115746 + 134074170 134087850 + 1580863;2316229;6480464 12031912 16243292;7522304;12919676;18391951;15668245;12477932;12388711;11006089;9632697;9311921;8824814;15451437;10880535;19135167;20126395;20485444;16344560;23041287;20553626;21139048;21906983;22281498;21128111 819 D6RIW3;P49069 ABBA01068746;ABBA01068747;ABBA01068748;AC010301;AF068179;AK313156;AMYH01015626;BC063532;BC130325;BG720084;BX111055;CH471062;DA727548;NM_001745;U18242 AAA59420;AAC23596;AAI30326;ADR82926;BAG35974;EAW62243;EAW62244;NP_001736;P49069 Hs.529846 1674906;1700284;1793358;1848328;2218334;5015961;5022322 CAMLG_4499;D11S2560;D15S1477;PMC212802P1;RH103760;SGC30209;SHGC-32215 CAML;MGC163197 OTTHUMP00000159378;OTTHUMP00000223128;calcium signal-modulating cyclophilin ligand;calcium-modulating cyclophilin ligand;calcium-signal modulating cyclophilin ligand;cyclophilin B-binding protein APPROVED protein-coding ENSG00000164615 1471 03073 601118 REVIEWED 1343513 CAMP cathelicidin antimicrobial peptide This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. The encoded protein has several functions in addition to antimicrobial activity, including cell chemotaxis, immune mediator induction and inflammatory response regulation. [provided by RefSeq, Aug 2011] 3 3 p21.3 48239866 48241979 + 48264837 48266981 + 1580863;2316243;2316237;6480464;6907045 17142779;19879657 22246800;19542465;19389235;19265148;19263072;19245866;19234121;19183447;19166322;19014773;18936485;18818205;18765670;18717821;18703682;18657865;18579695;18490458;18258235;18200058;18166145;18059019;17960624;17943182;17922409;17882905;17873860;17805349;17764778;17709140;17676051;17675463;17627504;17400609;17181861;17041145;17015740;17012259;16998135;16926414;16764694;16751768;16750994;16645154;16630942;16497887;16493063;16456005;16236890;16177113;16034119;15953032;15864780;15778507;15778390;15717688;15675959;15661923;15645239;15609314;15591123;15531744;15500911;15489334;15364108;15322010;15222757;15067080;15004180;14978112;14561157;12782669;12767238;12759353;12713586;12625579;12612195;12603850;12578451;17621825;12477932;21518024;12454100;12445197;12375270;12366839;12351523;12244186;12101274;11972628;11796631;11753073;11544322;11389039;11238224;11049988;11015447;10858248;10225921;9689116;9182550;8946956;8681941;7890387;7624374;7615076;7529412;22674298;19133797;19346112;19390494;19527294;19531482;19625657;19703986;19750480;19800862;19808939;19812202;19894716;19949065;20042575;20054823;20090765;20140902;20190140;20646232;20849904;16177355;20375583;20610648;20685090;20661475;20600427;17207965;20624254;20653851;19645825;20097832;20970965;22695798;23045480;23283724;21179490;20556966;21463582;21470491;22759465;22815956;22901663;23267025;23424670;21211790;21529380;21732986;21562016;21685939;21713010;21832078;21790937;21858032;23052388;23217559;22039520;22069323;21850017;22095714;22927244;23095809;22023339;21988832;23246832;22036268;22184422;22516952;23038277;23142587;23241112;23406372;22336091;23332157;23100468;22781454 820 J3KNB4;P49913 AA635187;ABBA01024653;AC104190;AMYH01013149;AY162210;AY251531;BC055089;BU074012;CH471055;CR457083;CR541961;GM949500;NM_004345;U19970;U48795;X89658;X96735;Z38026 AAA74084;AAC02634;AAH55089;AAN78318;AAP20054;ADQ32148;CAA61805;CAA86115;CAG33364;CAG46759;CAV11903;EAW64854;NP_004336;P49913 Hs.51120 2147727 SHGC-76929 CAP-18;CAP18;CRAMP;FALL-39;FALL39;HSD26;LL37 18 kDa cationic antimicrobial protein;CAP-18;OTTHUMP00000164805;cathelicidin antimicrobial peptide;hCAP-18 APPROVED protein-coding ENSG00000164047 1472 02722 600474 VALIDATED 1604302 CAMKV CaM kinase-like vesicle-associated 3 3 3 p21.31 49861230 49873180 - 49870426 49882373 - 49895422 49907369 - 6480464 18029348;19367581;15489334;15345747;14702039;12477932;11256614;11230166;8283228;16169070;21145461;21832049;21906983;22318606 79012 B4DM24;B4DSW8;C9J9E2;C9JSB2;E7ETR1;F8WDJ4;Q9H0Q5 ABBA01024571;AC105935;AC139451;AK074856;AK074899;AK075294;AK226073;AK295588;AK297258;AK297437;AK299953;AK315525;AL136697;AL833943;AL834461;AMYH01013163;BC000497;BC001921;BC005828;BC017363;BC019256;BC033374;BX647074;CH471055;CR533508;NM_024046 AAH00497;AAH01921;AAH05828;AAH17363;AAH19256;ABM82330;ABM87818;BAC11248;BAC11278;BAC11528;BAG37906;BAG58480;BAG59736;BAG59864;BAG61780;CAB66632;CAD38798;CAG38539;EAW65027;EAW65028;EAW65029;EAW65030;EAW65031;EAW65032;EAW65033;EAW65034;NP_076951;Q8NCB2 Hs.145156 1665869;1672186;2147079 1810;RH11809;WI-15318 1G5;MGC8407;VACAMKL OTTHUMP00000212743;OTTHUMP00000212744;OTTHUMP00000212745;OTTHUMP00000212746;OTTHUMP00000212747;OTTHUMP00000212766;caM kinase-like vesicle-associated protein;vesicle-associated calmodulin-binding protein protein-coding ENSG00000164076 28788 11361 614993 VALIDATED 1604039 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1 1 1 q32.1 173831311 173953903 + 198975309 199096455 + 200708686 200829832 + 6480464 19508979;15561718;15897902;15345747;14702039;12477932;12107410;10470851;21139048;22116939;19322201;16713569 23271 B3KTI4;H0Y4Z1;H0YE13;Q08AD1 AB029001;ABBA01027542;ABBA01027543;ABBA01027544;ABBA01027545;ABBA01027546;AF087998;AK026348;AK095640;AK126821;AL110158;AL450104;AMYH01001637;AMYH01001638;BC011385;BC029449;BC045721;BC056910;BC065508;BC125229;BC125230;CA388618;CH471067;H14341;NM_203459 AAH11385;AAH56910;AAI25230;AAI25231;BAA83030;BAG53096;BAG54376;CAB53664;EAW91320;EAW91321;NP_982284;Q08AD1 Hs.23585 1675461;1696910;1709560;2114213;2155623;2167056;2172375 RH101923;RH92112;SHGC-33046;SHGC-76118;SHGC-76122;SHGC-76143;SHGC-81869 CAMSAP1L1;KIAA1078;MGC150680;MGC150681;RP11-93N17.1 OTTHUMP00000033885;OTTHUMP00000033922;OTTHUMP00000038644;calmodulin regulated spectrin-associated protein 1-like 1;calmodulin-regulated spectrin-associated protein 1-like protein 1;calmodulin-regulated spectrin-associated protein 2 APPROVED protein-coding ENSG00000118200 29188 11124 613775 VALIDATED 1346126 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) 7240710 12205111;12774035 338434 20683 1316325 CAMSAP3 calmodulin regulated spectrin-associated protein family, member 3 19 19 19 p13.2 7533272 7554380 + 7566788 7589196 + 7660788 7683196 + 6480464;6484113 19041755;19041742;16964243;15489334;15302935;12477932;11318610;10819331;8889548;16169070;23084401;19508979;19389623;21900206 57662 Q8WZ12;Q9P1Y5 AB040976;ABBA01010894;ABBA01010895;ABBA01010896;ABBA01010897;ABBA01010898;AC008763;AF289580;AL833927;AMYH01009406;AMYH01009407;AMYH01009408;AMYH01009409;AMYH01009410;BC020431;BC035808;BC036935;BC064490;BC128201;BC128202;BU733578;CH471139;NM_001080429;NM_020902 AAI28202;AAI28203;AAL55764;BAA96067;CAD38783;EAW69025;EAW69028;NP_001073898;NP_065953;Q9P1Y5 Hs.17686 1334745;1336406;1851658;2111097;2137045 D19S388E;D19S76;D19S905;RH47063;SGC33793 KIAA1543;NEZHA calmodulin-regulated spectrin-associated protein 3;protein Nezha APPROVED protein-coding ENSG00000076826 29307 612685 VALIDATED 1318785 CAMTA1 calmodulin binding transcription activator 1 1 1 p36.31-p36.23 6767971 7752351 + 6845384 7829766 + 1580863;6480464 19336475;18210030;17470457;17222547;16710414;15709179;15138581;12964007;12477932;12168954;11925432;10048485;19913121;20628086;19851296;20125193;20198315;20379614;21385898;22693284;22429593;21584898;18029348;21857646;21951953;15174051;23000965;22699663;23362303 23261 G3V297;H0YJG5;H0YJK7;H0YJR7;H0YJV1;H0YJY7;Q9Y6Y1 AA757826;AB020640;ABBA01035467;ABBA01035468;ABBA01035469;ABBA01035470;ABBA01035471;ABBA01035472;ABBA01035473;ABBA01035474;ABBA01035475;ABBA01035476;ABBA01035477;ABBA01035478;ABBA01035479;ABBA01035480;ABBA01035481;ABBA01035482;ABBA01035483;ABBA01035484;ABBA01035485;ABBA01035486;ABBA01035487;ABBA01035488;ABBA01035489;AF086286;AF111804;AI278074;AK302088;AK309727;AL157716;AL359881;AL365194;AL512330;AL590128;AL596210;AL683812;AMYH01000218;AMYH01000219;AMYH01000220;AMYH01000221;AMYH01000222;AMYH01000223;AMYH01000224;AW956937;AY037153;AY349360;BC038183;BC051341;BC116457;BC151835;BG027385;BM470492;CD103791;NM_001195563;NM_001242701;NM_015215;NR_038934;Z97635;Z97987;Z98052;Z98884 AAH51341;AAI16458;AAI51836;AAK67633;AAL39006;AAQ56724;BAA74856;BAG63475;NP_001182492;NP_001229630;NP_056030;Q9Y6Y1 Hs.397705;Hs.671020 1298152;1338235;1338668;1338882;1338999;1339362;1339510;1339969;1655606;1670884;1672909;1686626;1691948;1692978;1695246;1695380;1698848;1706214;1711156;1732701;1732870;1732886;1732990;1733046;1733050;1740583;1740585;1754467;1759483;1762921;1765719;1781480;1781768;1788952;1849830;2113506;2118305;2120955;2125405;2137834;2145904;2163221;2173633;5015147;7187931 AL009308;AL009326;AL009713;AL009845;AL033595;AL034206;BZ907149;D1S113;D1S1192;D1S1297;D1S1306;D1S1365;D1S1398;D1S1400;D1S1646;D1S214;D1S2586;D1S2642;D1S2663;D1S2666;D1S2694;D1S508;D1S548;D1S95;G06229;G16217;G65551;RH102988;RH44468;RH98600;SHGC-132293;SHGC-132739;SHGC-146676;SHGC-149152;SHGC-150713;SHGC-152712;SHGC-155570;SHGC-31020;SHGC-62954;SHGC-68426;SHGC-74143;SHGC-74163;SHGC-80636;SHGC-85316 CANPMR;KIAA0833 OTTHUMP00000001352;OTTHUMP00000244035;OTTHUMP00000244036;OTTHUMP00000244038;calmodulin-binding transcription activator 1 protein-coding ENSG00000171735 18806 16681 611501;614756 VALIDATED 5489226 CAP1P1 CAP1 pseudogene 1 3 3 p12.3 76565859 76568015 + 76483169 76484576 + 401076 ABBA01031000;AC026877;AMYH01013293;NG_022250;NG_027734 pseudo 31134 INFERRED 5489259 CAP1P2 CAP1 pseudogene 2 10 10 q11.21 43420073 43421705 - 44100294 44101652 - 399748 ABBA01050012;AL645634;AMYH01002293;NG_022144 pseudo 31970 INFERRED 1322678 CAMTA2 calmodulin binding transcription activator 2 The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010] 17 17 17 p13.2 4886098 4905775 - 4812017 4831655 - 4871287 4890960 - 1580863;6480464 16678093;15489334;12477932;11925432;10048485;16344560;16678087;17046230;17689537 23125 I3L146;I3L2A1;I3L3V0;I3L3W6;O94983 AB020716;ABBA01054785;ABBA01054786;ABBA01054787;AC004771;AK302528;AK307947;AK308666;AL831849;AL833974;AMYH01008044;BC010050;BC016163;BC032381;BC136534;BC142606;BC142695;BC144232;BC167148;BC167149;BC167151;BC167160;BI548947;DB275145;NM_001171166;NM_001171167;NM_001171168;NM_015099 AAH10050;AAH16163;AAH32381;AAI36535;AAI42696;AAI44233;AAI67148;AAI67149;AAI67151;AAI67160;ACE86799;ACE87486;BAA74932;BAG63801;CAD38553;CAD38818;NP_001164637;NP_001164638;NP_001164639;NP_055914;O94983 Hs.632242 1698914;2218746;5022921;5491256 CAMTA2__4500;MARC_6523-6524:992007271:1;RH103026;ksks155 KIAA0909 OTTHUMP00000125265;calmodulin-binding transcription activator 2 APPROVED protein-coding ENSG00000108509 18807 13002 611508 VALIDATED 1346127 CAP2P1 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 14 14 14 q31.3 69803981 69806194 - 88825615 88827828 - 89755862 89758075 - 353163 ABBA01030520;AL157736;AL357093;AMYH01005939;NG_002772 pseudo 20142 INFERRED 733192 CAND2 cullin-associated and neddylation-dissociated 2 (putative) 3 3 3 p25.2 12776461 12814604 + 12813171 12851301 + 12838171 12876313 + 6480464 12692129;19159115;16641997;12207886;10441524;9734811;20736409;12477932;23181366;22613845;21139048;21906983;21169563;22190034;22952844 23066 C9JH00;F8WBB8;O75155 AB014567;ABBA01025188;ABBA01025189;AC034198;AMYH01012988;BC136592;BE256308;BX502783;BX648800;CH471055;DB471722;DR001490;GU727621;NM_001162499;NM_012298;W44800 AAI36593;ADU87623;BAA31642;EAW64143;NP_001155971;NP_036430;O75155 Hs.343664 1671993;1680296;1855525;2112560;2112680;2112682;2185840 D3S4338;D3S4400;D3S4401;RH93304;SHGC-32188;SHGC-76713;WI-21041 KIAA0667;TIP120B;Tp120b OTTHUMP00000207913;OTTHUMP00000209387;TBP interacting protein;TBP-interacting protein 120B;TBP-interacting protein of 120 kDa B;cullin-associated NEDD8-dissociated protein 2;cullin-associated and neddylation-dissociated protein 2;epididymis tissue protein Li 169;p120 CAND2;tbp-interacting protein tip120b protein-coding ENSG00000144712 30689 610403 VALIDATED 1348972 CANT1 calcium activated nucleotidase 1 This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 q25.3 74499394 74517433 - 76987798 77005899 - 631908;1580863;6480464;6907045;7240710 12167635 16751776;12761501;18451133;18222531;18067325;16303743;15489334;15248776;15006348;14702039;12600208;12477932;12234496;21037275;12676900;15211652;19853239;19948975;21435463;21412251;21654728;22539336;22797925 124583 K7EIP9;K7EKT2;K7EKW6;K7EMT2;K7EN15;K7EQD4;K7EQT4;Q8WVQ1 AB097006;AB097033;ABBA01002907;ABBA01002908;AC073624;AC100788;AF328554;AJ312208;AK026161;AK074687;AK295930;AMYH01008678;BC005104;BC017655;BC065038;BC118563;CH471099;CQ783584;DC355691;DQ578890;DQ582927;DQ585977;DQ595190;NG_016645;NM_001159772;NM_001159773;NM_138793 AAH05104;AAH17655;AAH65038;AAM94564;BAC11139;BAC77359;BAC77386;BAG58716;CAC85468;CAF86751;EAW89548;EAW89549;EAW89550;EAW89551;EAW89552;EAW89553;EAW89554;EAW89555;NP_001153244;NP_001153245;NP_620148;Q8WVQ1 Hs.8859 1340599 D17S1806 DBQD;SCAN-1;SCAN1;SHAPY Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase;apyrase homolog;micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification;putative MAPK-activating protein PM09;putative NF-kappa-B-activating protein 107;soluble Ca-activated nucleotidase, isozyme 1;soluble calcium-activated nucleotidase 1;soluble calcium-activated nucleotidase SCAN-1 APPROVED protein-coding ENSG00000171302 19721 13003 251450;613165 REVIEWED 733696 CAND1 cullin-associated and neddylation-dissociated 1 12 12 q14 65949416 65994189 + 67663061 67708388 + 1559298;6480464 15209382 12504025;10581176;12609982;18826954;16344560;16303743;16036220;15537541;15489334;15208391;14702039;12504026;12477932;11230166;10931946;10048485;8954946;17438373;18606781;21145461;21319273;22013077;22261722;22474075;22902628;22405651;12207886;16964240;17439941;17643375;18173839;19615732;19668339;20562859;15448697;19454010;20820187;12706828;22863883;22990118;23022380;21249194;21252943;21778237;22360420;18781797;19596686;21081666;21139048;21890473;21906983;12684064;16861300;17079684;19193609;20473970;21169563;22767593;23181366;17110338;19738201;19805454;21149631;23000965;23453757;22032989;23328082;19295130;22053931;23019411 55832 F5H6I6;H0YH27;Q9H0G2 AB020636;ABBA01026566;ABBA01026567;AC012518;AC078983;AF157326;AK000976;AK001791;AK027404;AK027783;AK074922;AK096010;AK129780;AK292456;AK314358;AL133560;AL136810;AL833880;AMYH01004558;BC004232;BC026220;BC050341;CH471054;DB064887;DB098973;NM_018448 AAF67492;AAH04232;AAH26220;AAH50341;ACE86847;ACE87534;BAA74852;BAB55090;BAB55365;BAF85145;BAG36990;BAG50842;BAG50975;CAB63714;CAB66744;CAD38737;EAW97171;EAW97172;NP_060918;Q86VP6 Hs.546407 1686140;1713925;1746735;1849539;1851984;2126610;2139099;2183899 D12S868;G64814;RH11001;RH119392;RH80154;STS-N47220;WI-12457;WI-13881 DKFZp434M1414;FLJ10114;FLJ10929;FLJ38691;FLJ90441;KIAA0829;TIP120;TIP120A OTTHUMP00000240019;TBP interacting protein;TBP-interacting protein 120A;TBP-interacting protein of 120 kDa A;cullin-associated NEDD8-dissociated protein 1;cullin-associated and neddylation-dissociated protein 1;p120 CAND1 protein-coding 30688 06983 607727 VALIDATED 733378 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008] 6 6 6 p22.3 18632068 18796067 + 17501715 17666002 + 17393736 17558023 + 1580863;6480464 7962207;18391951;17000669;15489334;15231748;12477932;8761950;20936779;22863883;23022774;21139048 10486 B7Z1C4;B7Z214;B7Z385;E9PDI2;F8WDB9;F8WEW0;P40123;Q5JPJ8 ABBA01022212;ABBA01022213;ABBA01022214;ABBA01022215;ABBA01022216;ABBA01022217;ABBA01022218;ABBA01022219;ABBA01022220;ABBA01022221;AI928000;AK293134;AK294215;AK295600;AK297538;AK308461;AK312362;AL034372;AL138824;AL832154;AMYH01016117;AMYH01016118;AMYH01016119;BC008481;BF791244;BI667914;CH471087;CR457022;NM_006366;U02390 AAA20587;AAH08481;ABM84679;ABM92205;BAG35280;BAH11460;BAH11700;BAH12121;BAH12609;CAG33303;CAI46134;EAW55380;NP_006357;P40123 Hs.132902 1339091;1339355;1678261;1712821;2108715;2140617;2172808;2172810 1874;A006B38;CAP2_9120;D6S1567;D6S966;G20684;RH120127;RH79700 2810452G09Rik;CAP 2;OTTHUMP00000016069;OTTHUMP00000214354;OTTHUMP00000214357;OTTHUMP00000214358;adenylyl cyclase-associated protein 2 APPROVED protein-coding ENSG00000112186 20039 10808 REVIEWED 7247095 CAPN10-AS1 CAPN10 antisense RNA 1 (head to head) q37.3 14702039 101752400 AC124862;AK024254;AL832402;NR_103792 Hs.585987 miscrna 48839 VALIDATED 1349457 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2008] 1 1 p34.2 40278842 40310908 + 40506255 40538321 + 1580863;2326238;6480464 19188911 20471030;22939629;7962207;1406678;18716285;18671965;17900295;16807684;16710414;16341674;16289162;15489334;15311924;14702039;12665801;12477932;11950878;8761950;8125298;20416077;22863883;22990118;23182705;21800051;21139048;21890473;22586326;11557983 10487 D3DPU2;Q01518;Q5T0R1;Q5T0R2;Q5T0R3;Q5T0R4;Q5T0R5;Q5T0R6;Q5T0R7;Q5T0R8;Q5T0R9;Q5T0S3 ABBA01023190;AK096193;AK222513;AK295396;AK297829;AK298094;AK298110;AK300861;AK315731;AL512599;AMYH01000531;BC013963;BC020367;BC095440;BI460362;BM772471;BP391532;BT007152;CH471059;CR457409;L12168;M98474;NM_001105530;NM_006367 AAA35507;AAA35648;AAH13963;AAH95440;AAP35816;ABM81586;ABM84766;BAD96233;BAG38086;BAG58350;BAG60165;BAG60379;BAG60395;BAG62510;CAG33690;EAX07239;EAX07240;EAX07241;EAX07242;EAX07243;EAX07244;EAX07245;NP_001099000;NP_006358;Q01518 Hs.370581;Hs.713078 1649851;1723535;2115796;2129011;2151518;2176157;5124079 D1S1857E;D1S2572;G16306;RH118585;RH69007;SHGC-74659;WI-12268 CAP;CAP1-PEN CAP 1;OTTHUMP00000004820;OTTHUMP00000004821;OTTHUMP00000004822;OTTHUMP00000004823;OTTHUMP00000004824;OTTHUMP00000004825;adenylyl cyclase-associated protein 1 APPROVED protein-coding ENSG00000131236 20040 09869 614849 REVIEWED 1323330 CAPG capping protein (actin filament), gelsolin-like This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012] 2 2 p11.2 85475382 85491187 - 85621871 85641197 - 1580863;6480464 1322908;19166812;19011242;18938132;18709641;18461482;18266911;18237446;18059028;17081065;16767159;15489334;15454578;12754261;12637565;12477932;11694586;9160743;8125298;7851883;7814409;18029348;19188659;19242827;19439302;22190510;21768101;11337467;21906983;22155129;21908955;23085225;19454010 822 B2R9S4;B4DU58;B8ZZL6;E7ENU9;H7C0X8;P40121 ABBA01075748;ABBA01075749;AC062037;AK130130;AK225374;AK225378;AK300507;AK309290;AK313898;AMYH01010494;AU099216;BC000728;BC014549;BU626913;CH471053;M94345;NM_001256139;NM_001256140;NM_001747;U12026 AAA59570;AAA92670;AAH00728;AAH14549;AAY24128;ABM83089;ABM86283;BAG36621;BAG62220;EAW99517;EAW99518;EAW99519;EAW99520;NP_001243068;NP_001243069;NP_001738;P40121 Hs.516155 2160884;5491818 CAPG;WI-17489 AFCP;MCP OTTHUMP00000203056;OTTHUMP00000203057;OTTHUMP00000203058;OTTHUMP00000203059;OTTHUMP00000203060;OTTHUMP00000203061;OTTHUMP00000203063;actin regulatory protein CAP-G;actin-regulatory protein CAP-G;gelsolin-like capping protein;macrophage capping protein;macrophage-capping protein APPROVED protein-coding ENSG00000042493 1474 01088 153615 REVIEWED 737068 CANX calnexin This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 5 5 q35 179058536 179091248 + 179125930 179158642 + 1580863;2314284;6480464;6907045 18567819 8136357;8055875;14966132;19054761;18791162;18716059;18417615;18367207;17728248;17395585;17203246;17170088;17081983;17081065;16938437;16858427;16565220;16304048;16061483;16002696;15923638;15557823;15537650;15489334;15467828;15261665;15236594;15231748;15161937;14980518;14732708;14732231;14498830;12805210;12643545;12610306;12610305;12562843;12507291;12477932;12383251;12359150;12239218;12222674;12208510;12119418;12052826;11851433;11756446;11751874;11583625;11566319;11506858;11350933;10636893;10601334;10364201;9717723;9642293;9545232;9528938;9525969;9312001;9295027;9110174;9050874;9024687;8910335;8662691;8621641;8619474;8551575;8549676;8486646;8278814;8163531;1326756;1286667;10873786;11054427;8790377;8550632;10364189;12582175;11765911;7513695;15105504;10461883;10436013;17948026;21145461;22905195;16169070;16546175;17215244;17220478;17387721;17467700;17872946;18029348;19524015;19801547;19815548;20202930;10929008;18303019;20506117;20528919;20720009;20801878;9765244;21205830;21362330;19651773;22915798;22939629;17569659;11901144;16257961;23233672;23383273;16196087;19135240;22354994;22586326;18781797;20360068;21081666;21139048;21343306;21693764;21890473;21906983;22222883;21842374;22314232;19471022;16361248;19723497;21252943;16968747;19322201;22065046;19342655;11054417;17360537;21632540;22053931;22190034;22242185;22337587;22505724;9642271;9925657;10671537 821 B4DGP8;B4E2T8;D6RAQ8;D6RAU8;D6RB85;D6RD16;D6RDP7;D6RFL1;D6RFW4;D6RG29;D6RGY2;D6RHJ3;H0Y9H1;H0Y9Q7;P27824 ABBA01010032;ABBA01010033;ABBA01010034;ABBA01010035;AC113426;AF070646;AJ271880;AK129990;AK130080;AK294702;AK304420;AK312334;AMYH01015957;BC003552;BC042843;BC050534;CH471165;JA462402;L10284;L18887;M94859;M98452;NM_001024649;NM_001746 AAA21013;AAA21749;AAA35696;AAA36125;AAH03552;AAH42843;ABM84720;ABM92244;BAC85269;BAG35255;BAG57859;BAG65250;CAB72137;CCD35249;EAW53802;EAW53803;EAW53804;EAW53805;NP_001019820;NP_001737;P27824 Hs.567968 1653593;1769655;1849556;2112208;2119090;2139140;2171534;2181088 108;D5S2779;RH16379;RH17758;RH44837;SHGC-12400;SHGC-52564;STS-N25670 CNX;FLJ26570;IP90;P90 OTTHUMP00000161516;OTTHUMP00000223184;OTTHUMP00000223187;calnexin;major histocompatibility complex class I antigen-binding protein p88 APPROVED protein-coding ENSG00000127022 1473 00252 114217 REVIEWED 1352333 CAPN14 calpain 14 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008] 2 2 2 p23.1-p21 31238630 31283129 - 31249426 31310228 - 31395922 31440411 - 6480464 14702039;11675017;10964513 440854 A8MX76;B7Z467;F1LLU4;G8JLL1 AA743820;ABBA01074852;AC015980;AK092257;AK296910;AL121657;AMYH01010219;DC347418;NM_001145122 A8MX76;BAG52511;BAH12453;NP_001138594 Hs.468059 1337052;1721687;1751339;1779030 D2S2283;D2S2741;G59706;SHGC-105147 FLJ54788 CANP 14;OTTHUMP00000201066;calcium-activated neutral proteinase 14;calpain-14 APPROVED protein-coding ENSG00000214711 16664 610229 VALIDATED 1316482 CAPN12 calpain 12 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 19 19 19 q13.2 36022825 36037032 - 43912672 43926954 - 39220832 39235114 - 6480464 14702039;12477932;10964513 147968 M0QXJ6;M0QZ20;M0QZT6;M0R052;M0R0X4;M0R3D7;Q6ZSI9 ABBA01040692;ABBA01040693;AC022144;AK125713;AK127398;AMYH01009784;AMYH01009785;BC014027;BC040022;BE872274;CH471126;NM_144691 AAI40398;AAI53094;BAC86959;EAW56813;EAW56814;EAW56815;EAW56816;NP_653292;Q6ZSI9 Hs.731775 1854288;2180935 RH16012;SHGC-16522 MGC20576 CANP 12;calcium-activated neutral proteinase 12;calpain-12 APPROVED protein-coding ENSG00000182472 13249 07007 608839 VALIDATED 736980 CAPN1 calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 11 11 q13 64705919 64736052 + 64948686 64979477 + 1580863;1626249;6480464;6907045 17429681 15935327;8702541;19457105;18823990;18806756;18793761;18726991;18498295;18468730;18165173;18085799;18071073;18070881;18032503;17977825;17908236;17765980;17716656;17690304;17359359;17195093;17157313;17121855;16908521;16740134;16697376;16598790;16361262;16150694;16107503;15975558;15950654;15948206;15809056;15663601;15590628;15489334;15488707;15471877;15302874;15131115;14980313;14702039;14612448;12843408;12684003;12591934;12477932;12432277;12393869;12358155;12200134;12121992;12000759;11861304;11516996;10846184;10830966;10677567;10521480;9989581;9852298;9110986;8993318;8938448;8695851;8561910;8253784;7592818;7499244;7493986;3038169;3017764;2844821;2400579;2209092;1656060;8954122;10978167;16737952;18029348;18624772;19617626;19901552;19946330;20034566;20041182;20193680;16344560;20933204;20398180;20518497;20514436;20557290;20659425;21268016;21305563;20679491;22863883;22990118;23289183;21209906;21516125;21876002;21880013;21252943;21531719;21825064;21374734;21808066;21555338;21442128;21839844;22335024;17620599;22477191;22586326;22145905;21139048;21890473;18624398;21906983;22449977;21315622;21494752;22480599;23006733;19458911;19738201;21963094;21987572;21988832;22190034;22623428;23000965;23400779;23408424;17897354;19022302;20962236;22505724 823 B2RDI5;B4DWH5;E9PIA9;E9PJA6;E9PJJ3;E9PL37;E9PLC9;E9PLQ6;E9PLX0;E9PMC6;E9PQB3;E9PRM1;E9PSA6;P07384 ABBA01024132;ABBA01024133;AK022319;AK025380;AK097277;AK301538;AK311001;AK315556;AMYH01003716;AP003068;AY550975;AY796340;BC008751;BC015091;BC017200;BC075862;BE018156;CH471076;DA788342;DC365116;DC372552;NM_001198868;NM_001198869;NM_005186;NR_040008;X04366 AAH08751;AAH17200;AAH75862;AAT52221;AAV41878;ABM83831;ABM87599;BAG37932;BAG63037;CAA27881;EAW74366;EAW74367;EAW74368;EAW74369;EAW74370;EAW74371;NP_001185797;NP_001185798;NP_005177;P07384 Hs.502842;Hs.735492 1738121;1851227;2132979;2167102;2175336;5016596 D11S3744;G33105;GDB:631802;RH11707;RH48703;SGC31567 CANP;CANP1;CANPL1;muCANP;muCL CANP 1;OTTHUMP00000230448;OTTHUMP00000230452;OTTHUMP00000230453;OTTHUMP00000230454;OTTHUMP00000230461;calcium-activated neutral proteinase 1;calpain 1;calpain mu-type;calpain, large polypeptide L1;calpain-1 catalytic subunit;calpain-1 large subunit;cell proliferation-inducing gene 30 protein;cell proliferation-inducing protein 30;micromolar-calpain APPROVED protein-coding ENSG00000014216 1476 00253 114220 REVIEWED 1342957 CAPN11 calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008] 6 6 6 p12 45679690 45705285 + 44234526 44260117 + 44126548 44152139 + 1580863;6480464 10409436;16541461;16344560;15489334;12477932;10340998;8070630;2479145 11131 E9PIX3;E9PQZ4;F5GX91;Q9UMQ6 ABBA01050646;ABBA01050647;ABBA01050648;AJ242832;AK300107;AK309883;AK314054;AL365192;AMYH01016319;BC033733;BG721593;CH471081;DB052011;NM_007058 AAH33733;ADZ15500;BAG36761;BAG61902;CAB52137;EAX04250;EAX04251;EAX04252;EAX04253;NP_008989;Q9UMQ6 Hs.225953 1334933;2109105 CAPN11_9225;D6S1650 calpain11 CANP 11;OTTHUMP00000016505;calcium-activated neutral proteinase 11;calpain-11 APPROVED protein-coding ENSG00000137225 1478 05315 604822 REVIEWED 732443 CAPN10 calpain 10 Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] 2 2 q37.3 241174818 241205795 + 241526133 241538526 + 737693;1625047;734686;1625046;1625049;1625050;1580863;1625063;4107073;4107074;6480464;7247733;7247735;7247732;7247734;7247736;7240710 14658759;16752174;11673414;17106059;16721485;14646187;20178008;19688040;22012129;18554168;22568896;20406624;11018080 18452715;18367022;18248681;18241614;18167206;17964829;17855447;17601994;17570749;17560157;17559371;17511963;17454172;17382509;16873988;16857402;16837224;16546286;16456802;16427731;16377260;16344560;16333311;16306378;16186407;16028216;15926113;15862281;15860244;15793266;15696376;15652721;15641690;15489334;15240652;15172858;14974344;14759258;14749261;14741193;14730479;14702039;14642065;14602801;14574648;14500039;12905623;12519860;12477932;12453914;12161543;12145185;12974673;17572128;15044459;15471947;19418728;19387820;19337008;19336475;19297292;19193380;19144693;18936436;18722363;18701098;18698425;18683748;18487065;12133483;12107745;12107735;12107250;12083814;12050223;12046551;11980626;11978669;11978665;11935160;11932299;11891618;11891023;11872216;11836299;11774208;11756349;11756346;11736815;11704924;11522685;11481585;11375982;11347906;11017071;9396712;12137596;22796443;11350192;20570542;20667559;20682687;19491387;19565864;19578796;19643578;19752882;19948975;20075150;20119856;20142250;20193213;20368234;20470430;20848425;20881413;20923526;23262350;21389182;19570442;22384174;21906115 11132 B7WPF5;H7C251;H7C2P1;Q9HC91 AB058748;ABBA01048874;ABBA01048875;AC124862;AF089088;AF089090;AF089091;AF089092;AF089093;AF089094;AF089096;AF158748;AK027330;AK074807;AK128552;AK300279;AL558905;AMYH01011623;AU310002;BC004260;BC007553;BC107088;BI909439;BQ052841;BQ962770;CH471063;DA413480;DA623373;DB224752;NG_011558;NM_023083;NM_023085 AAG17966;AAG17968;AAG17969;AAG17970;AAG17971;AAG17972;AAG17974;AAH04260;AAH07553;AAX88944;ABM84445;ABM87502;BAB47474;BAC11220;BAH13249;EAW71197;EAW71199;EAW71204;EAW71205;EAW71206;NP_075571;NP_075573;Q9HC96 Hs.728234 1667769;1678617;1721391;1776059;1781326;1781328;1781330 G31184;G31185;G31186;G59697;RH46532;RH80243;WI-15718 CANP10;NIDDM1 CANP 10;OTTHUMP00000164509;OTTHUMP00000201396;OTTHUMP00000201422;OTTHUMP00000201424;OTTHUMP00000201425;OTTHUMP00000201427;OTTHUMP00000201428;calcium-activated neutral protease;calcium-activated neutral proteinase 10;calpain-10;calpain-like protease CAPN10 2315054;2315066;2315772 GLUCO131_H;GLUCO132_H;GLUCO146_H APPROVED protein-coding ENSG00000142330 1477 05595 601283;605286 REVIEWED 1349624 CAPN13 calpain 13 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012] 2 2 2 p22-p21 30788751 30873413 - 30799141 30883815 - 30945637 31030311 - 15815621;15489334;14702039;12477932;11675017;10964513;10737800;20379614;20591971 92291 F5GYA7;F8W7Z8;H7C1Z4;Q6MZZ7 ABBA01074848;ABBA01074849;ABBA01074850;AC092569;AK026692;AK027176;AK074418;AK290298;AK308037;AMYH01010218;BC117345;BC117347;BM127691;BX476842;BX640793;BX647678;CH471053;NM_144575 AAI17346;AAI17348;AAX82015;ADR83092;BAB85075;BAF82987;CAE45878;EAX00491;EAX00492;EAX00493;NP_653176;Q6MZZ7 Hs.660911 1336214;1683755;1713973;1715537;1852572 D2S375;RH119416;RH120912;RH47910;SHGC-1668 FLJ23523 CANP 13;OTTHUMP00000201117;OTTHUMP00000201118;calcium-activated neutral proteinase 13;calpain-13 APPROVED protein-coding ENSG00000162949 16663 07008 610228 VALIDATED 1315174 CAPN15 calpain 15 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 778242 804990 + 517857 544637 + 577856 604636 + 1580863;6480464 9722942;15489334;12477932;11157797;11076863;10524757;8640222;21139048;21890473;21906983;21987572;21963094;22053931;23263863 6650 H3BR03;H3BT55;H3BTS4;O75808 ABBA01030363;ABBA01030364;AE006464;AMYH01006995;BC001869;BC011939;BC021854;BC032648;BC040169;BC044259;BC112918;BX341589;CH471112;NM_005632;U69557;U85647;Z97986;Z98882 AAC33822;AAH01869;AAH21854;AAI11933;AAI12919;AAI18502;AAK61233;EAW85803;NP_005623;O75808 Hs.632219 1698932 RH103035 CAPN15;MGC131491 OTTHUMP00000147599;calpain-15;small optic lobes homolog APPROVED protein-coding ENSG00000103326 11182 07220 603267 REVIEWED 736537 CAPN8 calpain 8 1 1 1 q41 196935481 197009067 - 221866556 221920053 - 223714972 223853436 - 632482;6480464 7690035 17646163;16344560;16341674;12477932;11523006;11516996;11329013;8889549 388743 A3QK36;A3QK37;A6NHC0;B1B153;B1B154;H0YDN4;H0YEJ4;H0YEQ4 ABBA01006375;ABBA01008159;ABBA01008160;AC099065;AMYH01001752;AMYH01001753;AMYH01001754;AMYH01001755;AMYH01001756;AMYH01001757;AMYH01001758;AMYH01001759;BC157893;BG187068;BM739137;BM843240;CR628412;CR848842;DA874912;NM_001143962 A6NHC0;AAI57894;NP_001137434 Hs.291487 1340391;1755447;1765245;1781676;2157613;2159628;7185256 D1S213;D1S2568;SHGC-142314;SHGC-148734;SHGC-155000;SHGC-76401 nCL-2 calpain-8;new calpain 2;stomach-specific M-type calpain protein-coding 1485 VALIDATED 5128765 CAPNS1P1 calpain, small subunit 1 pseudogene 1 1 1 1 p22.2 88105341 88105980 + 89632114 89632813 + 89859580 89860219 + 391053 ABBA01045587;AL691464;AMYH01000777;NG_022791 pseudo 39562 INFERRED 731876 CAPN3 calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] 15 15 q15.1 40427593 40491807 + 42651698 42704515 + 69795;734687;1600769;1600777;1580863;6480464;7240710 2555341;10814721;9150160;10806331 10229226;22505582;9642272;7720071;19386580;19074885;19048948;18974005;18676612;18563459;18337726;18334579;18310072;18299526;18258189;18073330;17979987;17702496;17596655;17585039;17318636;17157502;16971480;16934440;16627476;16533054;16290124;16189514;16141003;16107503;15827562;15725583;15689361;15489334;15351423;15324660;15221789;15073171;14981715;14702039;14675785;14583192;14506720;12882647;12482600;12477932;12461690;12075569;11485017;10987085;10330340;20517216;22443334;10068445;9873017;9771675;9763216;9762961;9655129;9396712;9266733;9246005;9185618;8624690;8537379;2209092;8954122;20860623;18854869;19556129;20139084;20634290;20533264;20635405;20301490;20477750;21172462;22926650;22006685;21984748;21386772;20686565;20301582;21836041;22158424;22486197;23666804;17897354;22975586 825 F8W8F5;H3BMH1;H3BNN7;H3BS30;H3BS77;H3BSA2;H3BUR3;H3BUZ3;H3BV08;P20807 ABBA01038377;ABBA01038378;AC012651;AF127764;AF127765;AF147441;AF209502;AK027249;AK293792;AK308103;AMYH01006581;AMYH01006582;AY902237;BC003169;BC003521;BC004883;BC007810;BC067126;BC100782;BC100783;BC100784;BC107791;BC128605;BC146649;BC146672;BT007322;EU791850;EU791851;FB775530;FB775532;FB775534;FB775536;FB775538;FB775540;FB775542;NG_008660;NM_000070;NM_024344;NM_173087;NM_173088;NM_173089;NM_173090;X85030 AAD28253;AAD28254;AAH03169;AAH03521;AAH04883;AAH07810;AAH67126;AAI00783;AAI00784;AAI00785;AAI07792;AAI28606;AAI46650;AAI46673;AAL40183;AAP35986;AAW69391;ACE86752;ACE87440;ACI63187;ACI63188;BAG57205;CAA59403;CAV30722;CAV30723;CAV30724;CAV30725;CAV30726;CAV30727;CAV30728;NP_000061;NP_077320;NP_775110;NP_775111;NP_775112;NP_775113;P20807 Hs.143261 1644727;1652869;1669128;1728933;1736718;1736740;1736772;1739419;1745141;1745143;1745145;1745147;1745149;1745151;1745153;1745155;1745179;1745183;1745185;1745187;1745189;1745191;1745195;1745197;1745201;1745203;1745205;1745209;1745211;1745217;1745221;1745225;1745227;1745229;1745235;1745237;1768707;1790231;2110299;2111252;2166229;2191531;5491326 CAPN3__4505;D15S1208;D15S498;D15S741;D15S756;D15S774;D15S882E;EST160846;GDB:595491;GDB:595502;GDB:595506;GDB:595511;GDB:595521;GDB:595526;GDB:595530;GDB:595532;GDB:596044;GDB:596046;GDB:596049;GDB:596085;GDB:596146;GDB:596192;GDB:596194;GDB:596196;GDB:596199;GDB:596200;GDB:596203;GDB:596205;GDB:596208;GDB:596213;GDB:596223;GDB:596226;GDB:596229;GDB:596230;GDB:596235;GDB:596238;MARC_26098-26099:1032551724:1;PMC104364P1;RH17562;SHGC-35143;SKM-CALPOV;UniSTS:141225;WI-17962 CANP3;CANPL3;LGMD2;LGMD2A;MGC10767;MGC11121;MGC14344;MGC4403;nCL-1;p94 CANP 3;OTTHUMP00000161194;OTTHUMP00000161195;OTTHUMP00000161196;calcium-activated neutral proteinase 3;calpain 3;calpain L3;calpain p94, large [catalytic] subunit;calpain, large polypeptide L3;calpain-3;muscle-specific calcium-activated neutral protease 3 large subunit;new calpain 1 APPROVED protein-coding ENSG00000092529 1480 00255 114240;253600 REVIEWED 732800 CAPN2 calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 1 1 q41-q42 221966742 222030343 + 223889295 223963720 + 1580863;1626249;6480464;6907045 17429681 16598790;16530191;16436382;16361262;16344560;16310784;15950654;15817486;15590481;15489334;15471877;15302874;14980313;14976200;14702039;14688278;12783889;12665801;12477932;12150984;12130691;12070670;12000759;11853546;11673052;11517928;11387205;11023826;10944468;10830966;10671558;10666632;9562261;9407132;9337844;9213221;8900201;8561910;3038169;2852952;2539381;10639123;19074885;18568448;18340456;18332219;18032503;17650508;17596297;17359359;17261541;17192410;16816119;16652152;22623320;22711986;2209092;1527057;1067155;8954122;11483505;21185840;21374734;10978167;17643375;19422794;19720936;19752040;19756344;19861418;19946123;20041182;20070945;20150423;20193680;20379614;20453000;9873017;19913121;20628086;20618160;20730561;20729206;20924799;21152086;22629380;22863883;22990118;21086148;21117903;22745213;21839844;18239623;23389291;21139048;21890473;21906983;22064597;22335024;22435971;14993287;21963094;23000965;23140395;23538341;23667531;17897354;20962236 824 B4DN77;C9JWY7;P17655;Q59EF6 AB209855;ABBA01008155;ABBA01008156;ABBA01008157;ABBA01008158;AC096542;AC099065;AF261089;AI089162;AK023851;AK056838;AK097247;AK124751;AK297800;AK303952;AK315179;AK316211;AMYH01001760;AMYH01001761;AY835586;BC007686;BC011828;BC021303;CH471100;DA448245;J04700;M23254;NM_001146068;NM_001748 AAA35645;AAA52760;AAF99682;AAH07686;AAH11828;AAH21303;AAV80421;ABM84238;ABM84546;ABW03605;BAC85936;BAD93092;BAG37620;BAG53441;BAG60139;BAG64879;BAH14582;EAW93249;EAW93250;EAW93251;NP_001139540;NP_001739;P17655 Hs.350899 1652057;2115825;2133079;2142765;2164828;5022578 AL009595;D1S1423;D1S2550;D1S3584;SHGC-76403;UniSTS:56629 CANP2;CANPL2;CANPml;FLJ39928;mCANP CANP 2;M-calpain;OTTHUMP00000035497;calcium-activated neutral proteinase 2;calpain 2;calpain 2, large [catalytic] subunit;calpain 2, large subunit;calpain M-type;calpain large polypeptide L2;calpain, large polypeptide L2;calpain-2 catalytic subunit;calpain-2 large subunit;millimolar-calpain 2289325 BW86_H APPROVED protein-coding ENSG00000162909 1479 00254 114230 REVIEWED 734276 CAPN6 calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009] X X X q23 110967943 110993390 - 110374987 110400407 - 110488327 110513774 - 635266;1580863;6480464 9503024 9339374;21681744;18657900;15772651;15489334;12477932;10340998;8163008;16344560;20414141;8401585;19913121;20628086;17210638 827 F5GWQ6;Q9Y6Q1 A98730;AA368247;ABBA01043322;ABBA01043323;ABBA01043324;AF029232;AJ000388;AK300340;AK312701;AL031117;AMYH01022840;AY800242;BC000730;CH471120;DA863483;L32067;NG_015962;NM_014289 AAB86605;AAH00730;AAV41896;ABM82777;ABM85967;BAG35579;BAG62085;CAA04051;CAB70568;EAX02650;EAX02651;NP_055104;Q9Y6Q1 Hs.496593 1645334;1691670;1702454;2187278;5119184 AL023597;AL032604;DXS1252;DXS7540;SGC32977 CANPX;CAPNX;CalpM;DJ914P14.1 OTTHUMP00000023858;calpain-6;calpain-like protease X-linked;calpamodulin APPROVED protein-coding ENSG00000077274 1483 02145 300146 REVIEWED 1312532 CAPN7 calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008] 3 3 3 p24 15185995 15232682 + 15222737 15269427 + 15247733 15294423 + 1580863;6480464 12477932;11342116;14702039;17986458;10051333;8889548;8163008;20849418;21963094;23497113;21890473;21906983;21616915;22505724 23473 F8WCZ1;F8WDQ3;H7C0F1;H7C1B7;Q7Z479;Q9Y6W3 AB028639;ABBA01025142;ABBA01025143;ABBA01025144;AC087590;AK093742;AK314253;AMYH01013001;BC056202;BI464220;BM974327;BX502535;CH471055;NM_014296 AAH56202;ADZ16049;BAA78730;BAG36919;EAW64223;EAW64224;NP_055111;Q9Y6W3 Hs.595234 1683255;1753605;2121447;2124861;2158282 G16595;RH66709;RH68909;SHGC-107505;SHGC-64041 CALPAIN7;FLJ36423;PALBH OTTHUMP00000160302;calpain like protease;calpain-7;homolog of Aspergillus Nidulans PALB;palB homolog APPROVED protein-coding ENSG00000131375 1484 05908 606400 REVIEWED 731611 CAPN9 calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.11-q42.3 204149151 204203730 + 228949753 229004372 + 230883130 230937749 + 724622;734688;1580863;6480464 9524069;10835488 19074885;17157313;12477932;11516996;9917325;8561910;20379614;20453000;23049088 10753 E7ESS6;O14815;Q6PIV8 AB038463;ABBA01033028;ABBA01033029;AF022799;AK298024;AK309039;AK313629;AL512328;AL591291;AMYH01001814;AY874864;BC027993;CH471098;FO393421;NM_006615;NM_016452 AAB80762;AAH27993;AAW49735;BAA92137;BAG36389;BAG60326;EAW69920;EAW69921;EAW69922;NP_006606;NP_057536;O14815 Hs.498021 1336310;1764693;1765383;1852539;2126263;2145576 AL009462;D1S1656;D1S3730;G15722;SHGC-148285;SHGC-148871 GC36;nCL-4 OTTHUMP00000035899;OTTHUMP00000035900;calpain 9 (ncl-4);calpain-9;digestive tract-specific calpain;new calpain 4;novel calpain large subunit-4 2289325 BW86_H APPROVED protein-coding ENSG00000135773 1486 05909 606401 REVIEWED 731758 CAPN5 calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008] 11 11 q14 76455640 76514849 + 76777992 76837201 + 635266;1580863;6480464 9503024 9339374;18829447;18787380;18657264;17227582;16396936;15489334;15464980;14702039;12477932;11517927;11168679;9367857;8889548;19913121;20628086;19734545;19948975;20200332;21139048;21906983;23055945 726 E7EV01;E9PS73;K7EP62;O15484 AB209087;ABBA01017439;ABBA01017440;ABBA01017441;AK092880;AK094150;AK128124;AK129588;AK310978;AK313132;AMYH01003823;AP000752;BC018123;BM679546;CH471076;NG_033002;NM_004055;U94346;Y10552 AAC51869;AAH18123;ABM82528;ABW03388;BAC85188;BAC87282;BAD92324;BAG52829;CAA71584;EAW75014;EAW75015;EAW75016;NP_004046;O15484 Hs.248153 1652209;1660070;1661768;1678357;1737065;1737663;1778290;2107453;2136136;2149504;2181240;2220364;5022200 A003B31;A006A01;D11S2312E;D11S2819;D11S3269;L18426;OMP;OMP__7185;RH47480;RH70524;RH78791;UniSTS:480807;WI-18290 FLJ46245;HTRA3;nCL-3 OTTHUMP00000228836;OTTHUMP00000228838;OTTHUMP00000228839;calpain htra-3;calpain-5;new calpain 3 APPROVED protein-coding ENSG00000149260 1482 03963 602537 REVIEWED 1313896 CAPRIN1 cell cycle associated protein 1 11 11 11 p13 34220789 34271699 + 34029806 34080733 + 34073230 34124157 + 1580863;6480464 17353931;21145461;7657653;17210633;16177067;15471883;14764709;12477932;11060040;8786113;12183049;18029348;20516077;19250063;20696395;16055720;22737234;21182205;21832049;22939629;20360068;21139048;21890473;21906983;19542561;22586326;21628590;23097442;22053931;22174317;22505724 4076 E9PLA9;E9PP31;G3V153;Q14444 ABBA01060876;ABBA01060877;AC090469;AF086078;AK127972;AK299720;AMYH01003486;BC001731;BC015700;BC026302;BK001101;BK001104;BR000867;CH471064;JA385098;JA385100;NM_005898;NM_203364;X89572;Z48042 AAH01731;ABW03502;ABW03810;ABW03918;BAG54610;BAG61620;CAA61751;CAA88096;CCB07370;CCB07371;DAA01118;DAA01121;EAW68176;EAW68177;EAW68178;EAW68179;EAW68180;FAA00692;NP_005889;NP_976240;Q14444 Hs.471818 1676862;1677338;1679479;1688845;1689410;1693604;1719879;2137106;2137521;2141626;2165393;5018347;5124633 RH123632;RH12452;RH142945;RH27392;RH64874;RH79878;RH80676;RH93956;RH98715;SHGC-58520;STS-L37771;STS-T10644;WI-19568 GPIAP1;GPIP137;M11S1;RNG105;caprin-1;p137GPI GPI-anchored membrane protein 1;GPI-anchored protein p137;GPI-p137;OTTHUMP00000232328;OTTHUMP00000232330;OTTHUMP00000232331;OTTHUMP00000232929;OTTHUMP00000232930;RNA granule protein 105;activation/proliferation-associated protein 1;caprin 1;caprin-1;cell cycle-associated protein 1;cytoplasmic activation- and proliferation-associated protein 1;cytoplasmic activation/proliferation-associated protein-1;membrane component chromosome 11 surface marker 1;membrane component, chromosome 11, surface marker 1 protein-coding ENSG00000135387 6743 03108 601178 VALIDATED 1345503 CAPNS2 calpain, small subunit 2 16 16 16 q12.2 40114807 40115815 + 54158085 54159093 + 55600584 55601592 + 1580863;6480464 15489334;12477932;11853546;15590481;17207965;19913121;20628086;21832049;23408906;23390828 84290 Q96L46 ABBA01066525;AC007336;AMYH01007681;AY052551;BC005397;BC006000;CH471092;NM_032330 AAH05397;AAH06000;AAL02241;ACE87747;ADQ32630;EAW82830;NP_115706;Q96L46 Hs.660027 MGC12536;MGC14804 CSS2;OTTHUMP00000236926;calcium-dependent protease small subunit 2;calpain small subunit 2 protein-coding ENSG00000256812 16371 16682 VALIDATED 1604605 CAPRIN2 caprin family member 2 The protein encoded by this gene may be involved in the transitioning of erythroblasts from a highly proliferative state to a terminal phase of differentiation. High level expression of the encoded protein can lead to apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 12 12 12 p11 36005312 36050258 - 30753753 30798715 - 30862486 30907448 - 6480464 14593112;18762581;16094384;14764709;14702039;12477932;11347906;21145461;20516077 65981 F5GXI7;F5GYA1;F5GZX3;F5H142;F5H5J8;F5H7T6;H0YGG3;H0YID4;H3BM22;H7BXN4;Q96RN6 AB058776;ABBA01068089;AC010198;AF326778;AF525416;AK021453;AK024247;AK026222;AL834212;AMYH01004361;AY074490;AY074491;BC007520;BC025420;BC066295;BC111007;BC117672;BC117673;BK001102;BK001103;BQ010043;BR000870;BX537569;BX538080;CH471094;NG_029557;NM_001002259;NM_001206856;NM_023925;NM_032156;NR_038177 AAH66295;AAI11008;AAI17673;AAI17674;AAK83153;AAL71549;AAL71550;AAP80792;BAB13830;BAB15398;BAB47502;CAD97786;CAD98004;DAA01119;DAA01120;EAW96608;EAW96609;EAW96610;EAW96611;EAW96612;EAW96613;EAW96614;EAW96615;EAW96616;FAA00695;NP_001002259;NP_001193785;NP_076414;NP_115532;Q6IMN6 Hs.234355 1664569;1726007;1740149;1852211;2171514;2171516;5022651;5037552 A006H42;A006S17;D11S2921;D12S1577;D12S1821;D8S2279;G20824;G62362 C1QDC1;EEG-1;EEG1;FLJ11391;FLJ22569;KIAA1873;MGC102894;MGC134847;MGC134848;RNG140;caprin-2 C1q domain containing 1;C1q domain-containing protein 1;OTTHUMP00000240356;OTTHUMP00000240689;OTTHUMP00000240691;OTTHUMP00000240692;OTTHUMP00000240693;RNA granule protein 140;caprin-2;cytoplasmic activation/proliferation-associated protein 2;gastric cancer multidrug resistance-associated protein;protein EEG-1 APPROVED protein-coding ENSG00000110888 21259 12711 610375 REVIEWED 1352276 CAPZA1P capping protein (actin filament) muscle Z-line, alpha 1 pseudogene X X X q21.3 87588102 87590440 - 87238048 87238902 - 87349921 87352259 - 11499681 53338 ABBA01051962;AF284769;AL024493;AMYH01022675;NG_001277 pseudo 1489 INFERRED 735486 CAPNS1 calpain, small subunit 1 Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.12 41322758 41333095 + 36630918 36641255 + 1580863;6480464 8702541;10639123;18029348;18544539;18234454;16169070;15611136;15489334;15057824;12684003;12591934;12477932;12358155;12121983;11673052;11517928;11516996;10737800;10666632;10661889;9326644;9110174;8619474;8561910;3024120;3016651;2209092;1656060;17643375;18761085;19942621;20107320;20419804;19913121;20628086;21268016;22863883;22939629;21151833;21890473;21906983;22118674;22318606;19738201;21963094;21988832;22623428;23349941 826 K7EIV0;K7EK10;K7EKD8;K7ELJ7;K7EM73;K7EMQ1;K7EP80;K7ES78;K7ES82;P04632 ABBA01018779;AC002984;AD001527;AK289606;AMYH01009738;AMYH01009739;AY007141;AY789642;BC000592;BC007779;BC011903;BC017308;BC018931;BC021933;BC023643;BC064998;BF822052;BQ898664;BT009775;M31501;M31511;NM_001003962;NM_001749;X04106;X64180;X64190 AAA35646;AAB51183;AAB81546;AAH00592;AAH07779;AAH11903;AAH17308;AAH18931;AAH21933;AAH23643;AAH64998;AAP88777;AAV40829;BAF82295;CAA27726;NP_001003962;NP_001740;P04632 Hs.515371 1665842;1734642;2155827;2168428;2177925;5022716 CAPNS1;D19S1102;D19S640E;G13289;RH69431;STS-X04106 30K;CALPAIN4;CANP;CANPS;CAPN4;CDPS;CSS1 CANP small subunit;calcium-activated neutral proteinase small subunit;calcium-dependent protease small subunit 1;calcium-dependent protease, small subunit;calpain 4, small subunit (30K);calpain regulatory subunit;calpain small subunit 1;calpain, small polypeptide APPROVED protein-coding ENSG00000126247 1481 00240 114170 REVIEWED 1320373 CAPS2 calcyphosine 2 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008] 12 12 12 q14.1 75337122 75391273 - 73957276 74070969 - 75669759 75723836 - 6480464 15489334;14702039;14530279;12477932;11846421;1184642 84698 A2RRN2;B9A061;C9J524;F8VWP7;F8VZC3;F8W927;H7BXT1;Q9BXY5 ABBA01026470;AC091534;AC092552;AC121761;AF251056;AF351611;AK091839;AK092274;AMYH01004591;AMYH01004592;BC033860;BC056672;BC131724;CH471054;NM_032606 AAH56672;AAI31725;AAK34946;AAN76511;BAC03759;BAC03845;EAW97296;EAW97297;EAW97298;EAW97299;EAW97300;NP_115995;Q9BXY5 Hs.733835 2110303 CAPS2__4508 FLJ34520;UG0636c06 OTTHUMP00000202411;OTTHUMP00000202412;OTTHUMP00000229610;calcyphosin-2;calcyphosine-2;calcyphosphine 2 APPROVED protein-coding ENSG00000180881 16471 09659 607724 VALIDATED 1348480 CAPS calcyphosine This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008] 19 19 p13.3 5865219 5866886 + 5914193 5916222 + 1580863;6480464 2540953;19275752;18775726;18729184;15489334;15057824;12477932;9224948;9125191;8889548;8125298;2265558;20468064;18029348 828 K7EL21;K7ES72;Q13938;Q96ET4 ABBA01055983;AC004602;AC104532;AK090469;AK226026;AMYH01009367;AW510425;BC011961;BC019065;BC080599;BC101513;BC104766;BG768134;BU689238;CH471139;CS300742;CS300743;NM_004058;NM_080590;X97966 AAC14484;AAH11961;AAH80599;AAI01514;AAI04767;BAC03450;CAA66609;CAK32406;CAK32407;EAW69125;EAW69126;EAW69127;EAW69128;NP_004049;NP_542157;Q13938 Hs.584744 2129061;5014019;5014039;5015619;5015961;5016478;5016781;5017227;5020946;5022200;5022322;5022578;5037552;5493005 D11S2560;D11S3114;D15S1477;D1S1423;D22S1584;D5S2354;D8S2279;G38154;GDB:434012;L17971;L18426;RH78172;SHGC-67307;UniSTS:483678 CAPS1;MGC126562 calcyphosin;calcyphosine 1;thyroid protein p24 APPROVED protein-coding 1487 00250 114212 VALIDATED 1601932 CAPSL calcyphosine-like 5 5 5 p13.2 35790080 35824563 - 35940154 35974638 - 35904397 35938881 - 6480464 18563381;17554260;15489334;12477932;8889549;8889548;21832049 133690 D6RF97;D6RHD7;Q8WWF8 ABBA01024158;AC112204;AMYH01015024;BC017586;BM975803;CD687387;CH471119;NM_001042625;NM_144647;W25222 AAH17586;ADZ16101;EAW55926;NP_001036090;NP_653248;Q8WWF8 Hs.55150 1719525 RH123495 MGC26610 OTTHUMP00000161737;OTTHUMP00000221227;OTTHUMP00000222243;calcyphosin-like protein protein-coding ENSG00000152611 28375 14506 VALIDATED 1319685 CARD11 caspase recruitment domain family, member 11 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008] 7 7 p22 2912295 3050105 - 2945709 3083509 - 1580863;6480464;6907045 11278692;16809782;12154360;15122200;15125833;15541657;17468049;19104039;18625728;18323416;18231929;17428801;17287217;16520020;16508008;16356856;16356855;16301747;15802604;15184390;14739370;14702039;14673152;12690205;12477932;12356734;12154356;11356195;11259443;8889549;9847074;22528498;22808296;21266526;16825666;17047224;17293856;19444310;19706536;20164171;20237496;21157432;20544211;21172665;20799731;21176849;22397314;23027925;23129749;23374270;22411628;23632891;23690623;20008554;21905497;21569705;22303480;22371397;21513986;19815501;21900206;22075698;17363905;23264041;23322406;23042114;23128233;23218918;18806265;23149938 84433 E2QRC0;H7BY05;Q8TES3;Q9BXL7 AA194010;AA594170;AACC02000053;ABBA01039390;ABBA01039391;ABBA01039392;ABBA01039393;ABBA01039394;AC004906;AC024028;AC092689;AF322641;AF352576;AK074049;AK097139;AMYH01016981;AMYH01016982;AMYH01016983;AW139089;BC111719;CH236953;CH471144;NG_027759;NM_032415 AAG53402;AAI11720;AAL34460;AAQ96893;BAB84875;EAL23962;EAW87276;EAW87277;EAW87278;EAW87279;NP_115791;Q9BXL7 Hs.648101 1336846;1771574;2119980;2166791;2217106;5022651;7185207 CARD11_3630;D11S2921;D7S2484;G09444;GDB:1318525;RH65749 BENTA;BIMP3;CARMA1;MGC133069;PPBL CARD-containing MAGUK protein 1;OTTHUMP00000024641;bcl10-interacting maguk protein 3;card-maguk protein 1;carma 1;caspase recruitment domain-containing protein 11 APPROVED protein-coding ENSG00000198286 16393 06234 607210;615206 REVIEWED 1353508 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 24036563 24037640 + 18782312 18783389 + 18891045 18892122 + 1580863;6480464 15489334;14702039;12477932;12029070;10524250;7957958;19913121;20628086;21139048 93661 Q96KX2 AB053259;ABBA01067925;AC087242;AK058174;AMYH01004310;BC016745;BG772483;CH471094;HC006864;NM_033328 AAH16745;ADZ15357;BAB61901;BAB71703;CBH19237;EAW96391;NP_201585;Q96KX2 Hs.131288 CAPPA3;Gsg3 CP-alpha-3;CapZ alpha-3;F-actin capping protein alpha-3 subunit;F-actin-capping protein subunit alpha-3;OTTHUMP00000239909;germ cell-specific protein 3 APPROVED protein-coding ENSG00000177938 24205 12282 608722 REVIEWED 1314786 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008] 1 1 p13.2 112963598 113015764 + 113162075 113214241 + 1580863;6480464 9828130;7665558;17353931;16130169;9331217;18321953;16987810;16710414;16344560;15489334;12690097;12488317;12480931;12477932;12470955;9803314;9354614;9119363;8639502;8125298;1602151;21145461;21572416;19615732;19922875;16054028;22863883;22990118;22939629;23084401;23106098;23184937;16196087;21566537;21800051;17620599;21822214;18457437;21139048;21890473;21906983;19322201;21628590;22706086;16678097;22070227;20697350;20876399;20884878;22505724;9852149 829 P52907 ABBA01068413;ABBA01068414;ABBA01068415;ABBA01068416;AJ227918;AK223226;AK289654;AL603832;AL929470;AMYH01000949;BC000144;BC034391;BT019364;BX648738;CH471122;CR407657;CR541819;DB233456;NM_006135;U56637 AAC00533;AAH00144;AAV38171;ABM81680;ABM84845;BAD96946;BAF82343;CAG28585;CAG46618;EAW56525;EAW56526;EAW56527;NP_006126;P52907 Hs.514934 1335693;2147819;7186593 D1S487;SHGC-75335 CAPPA1;CAPZ;CAZ1 Cap Z;F-actin-capping protein subunit alpha-1;OTTHUMP00000013512;capZ alpha-1 APPROVED protein-coding ENSG00000116489 1488 03347 601580 REVIEWED 1605176 CARD17 caspase recruitment domain family, member 17 11 11 11 q22.3 102127380 102136342 - 104468406 104477368 - 104963196 104972158 - 15383541 440068 Q5XLA6 ABBA01039912;AMYH01004003;AP001153;AY761064;CH471065;NM_001007232 AAI46364;AAV28630;EAW67064;NP_001007233;Q5XLA6 Hs.732627 1652545 STS-N29857 INCA Inhibitory CARD;OTTHUMP00000232067;caspase recruitment domain-containing protein 17;caspase-1 inhibitor INCA;inhibitory caspase recruitment domain (CARD) protein;inhibitory caspase recruitment domain protein protein-coding ENSG00000255221 33827 17149 609490 PROVISIONAL 1350794 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008] 7 7 7 q31.2-q31.3 111310094 111366812 + 116289799 116346549 + 116502563 116559313 + 1580863;6480464 17353931;9331217;18029348;17567994;15489334;12853948;12690205;12665801;12477932;12029070;8125298;7665558;1602151;16054028;12470955;22863883;17620599;21822214;18624398;21139048;21890473;21906983;19322201;20697350;20876399;22505724 830 A4D0V4;B4DG50;C9J7V0;C9JCZ4;C9JUG7;F8W9N7;F8WED3;P47755 AACC02000001;ABBA01057804;ABBA01057805;AC002543;AK222989;AK223004;AK293405;AK294409;AK311406;AK314808;AK315915;AMYH01017883;AMYH01017884;BC005338;BC015963;BI553815;BT006735;BX386541;CH236947;CH471070;DQ655955;DQ655956;NM_006136;U03269;U03851 AAA88848;AAC00534;AAC60382;AAH05338;AAP35381;BAD96709;BAD96724;BAG37333;BAG56912;BAG57661;BAH14286;EAL24358;EAW83512;EAW83513;EAW83514;EAW83515;NP_006127;P47755 Hs.446123 1654383;1672294;1704860;1711748;1711750;1711752;1800042;1801352;1802710;1802712;1804482;1804818;1804864;1805446;1805650;1808304;1809008;1810454;1814754;1814830;1814978;1817200;1820110;1820464;1821304;1822074;1823038;1823916;1826566;1827024;1830604;1831148;1831412;1833574;1833620;1834536;1834538;1834720;1834770;1834810;1835134;1835880;1836126;1836176;1836900;1837694;1837942;1841184;1841414;1841480;1841544;1841738;1843134;1843580;1844204;1845294;1845296;1845556;1845558;1845836;1853278;1989030;1989032;1989034;1989036;1989038;1989040;1989042;1989044;1989046;1989048;1989050;1989052;1989054;1989056;1989058;1989060;1989062;1989064;1989066;1989068;1989070;1989072;1989074;1989076;1989078;1989080;1989082;1989084;1989086;1989088;1989090;1989092;1989094;1989096;1989098;1989100;1989102;1989104;1989106;1989108;1989110;1989112;1989114;1989116;1989118;1989120;1989122;1989124;1989126;1989128;1989130;1989132;1989134;1989136;1989138;1989140;1989142;1989144;1989146;1989148;1989150;1989152;1989154;1989156;1989158;1989160;1989162;1989164;1989166;1989168;1989170;1989172;1989174;1989176;1989178;1989180;1989182;1989184;1989186;1989188;1989190;1989192;1989194;1989196;1989198;1989200;1989202;1989204;1989206;1989208;1989210;1989212;1989214;1989216;1989218;1989220;1989222;1989224;1989226;1989228;1989230;1989232;1989234;1989236;1989238;1989240;1989242;1989244;1989246;1989248;1989250;1989252;1989254;1989256;1989258;1989260;1989262;1989264;1989266;1989268;1989270;1989272;1989274;1989276;1989278;1989280;1989282;1989284;1989286;1989288;1989290;1989292;1989294;1989296;1989298;1989300;1989302;1989304;1989306;1989308;1989310;1989312;1989314;1989316;1989318;1989320;1989322;1989324;1989326;1989328;1989330;1989332;1989334;1989336;1989338;1989340;1989342;1989344;1989346;1989348;1989350;1989352;1989354;1989356;1989358;1989360;1989362;1989364;1989366;1989368;1989370;1989372;1989374;1989376;1989378;1989380;1989382;1989384;1989386;1989388;1989390;1989392;1989394;1989396;1989398;1989400;1989402;1989404;1989406;1989408;1989410;1989412;1989414;1989416;2093740;2093742;2093744;2093746;2093748;2093750;2093752;2093754;2093756;2093758;2093760;2093762;2093764;2093766;2093768;2093770;2093772;2093774;2093776;2093778;2093780;2093782;2093784;2093786;2093788;2093790;2093794;2093796;2093798;2093800;2093802;2093804;2093806;2093808;2093810;2093812;2093814;2093816;2128426;2128945;2148888;5092350 D7S2776;ECD00876;ECD01548;ECD02242;ECD02243;ECD03166;ECD03342;ECD03367;ECD03671;ECD03775;ECD05133;ECD05487;ECD06220;ECD08408;ECD08446;ECD08520;ECD09650;ECD11128;ECD11307;ECD11732;ECD12123;ECD12607;ECD13052;ECD14397;ECD14627;ECD16438;ECD16710;ECD16842;ECD17930;ECD17955;ECD18416;ECD18417;ECD18508;ECD18533;ECD18553;ECD18722;ECD19101;ECD19224;ECD19249;ECD19614;ECD20014;ECD20142;ECD21787;ECD21903;ECD21936;ECD21969;ECD22068;ECD22775;ECD22999;ECD23315;ECD23864;ECD23865;ECD23996;ECD23997;ECD24137;G10671;G49382;G49383;G49384;G49385;REN65419;REN65420;REN65421;REN65422;REN65423;REN65424;REN65425;REN65426;REN65427;REN65428;REN65429;REN65430;REN65431;REN65432;REN65433;REN65434;REN65435;REN65436;REN65437;REN65438;REN65439;REN65440;REN65441;REN65442;REN65443;REN65444;REN65445;REN65446;REN65447;REN65448;REN65449;REN65450;REN65451;REN65452;REN65453;REN65454;REN65455;REN65456;REN65457;REN65458;REN65459;REN65460;REN65461;REN65462;REN65463;REN65464;REN65465;REN65466;REN65467;REN65468;REN65469;REN65470;REN65471;REN65472;REN65473;REN65474;REN65475;REN65476;REN65477;REN65478;REN65479;REN65480;REN65481;REN65482;REN65483;REN65484;REN65485;REN65486;REN65487;REN65488;REN65489;REN65490;REN65491;REN65492;REN65493;REN65494;REN65495;REN65496;REN65497;REN65498;REN65499;REN65500;REN65501;REN65502;REN65503;REN65504;REN65505;REN65506;REN65507;REN65508;REN65509;REN65510;REN65511;REN65512;REN65513;REN65514;REN65515;REN65516;REN65517;REN65518;REN65519;REN65520;REN65521;REN65522;REN65523;REN65524;REN65525;REN65526;REN65527;REN65528;REN65529;REN65530;REN65531;REN65532;REN65533;REN65534;REN65535;REN65536;REN65537;REN65538;REN65539;REN65540;REN65541;REN65542;REN65543;REN65544;REN65545;REN65546;REN65547;REN65548;REN65549;REN65550;REN65551;REN65552;REN65553;REN65554;REN65555;REN65556;REN65557;REN65558;REN65559;REN65560;REN65561;REN65562;REN65563;REN65564;REN65565;REN65566;REN65567;REN65568;REN65569;REN65570;REN65571;REN65572;REN65573;REN65574;REN65575;REN65576;REN65577;REN65578;REN65579;REN65580;REN65581;REN65582;REN65583;REN65584;REN65585;REN65586;REN65587;REN65588;REN65589;REN65590;REN65591;REN65592;REN65593;REN65594;REN65595;REN65596;REN65597;REN65598;REN65599;REN65600;REN65601;REN65602;REN65603;REN65604;REN65605;REN65606;REN65607;REN65608;REN65609;REN65610;REN65611;REN65612;RH44861;SHGC-79904;STS-U03851;WI-18209;WI-18760;stSG598217;stSG598221;stSG598222;stSG598223;stSG598224;stSG598225;stSG598226;stSG598227;stSG598228;stSG598229;stSG598230;stSG598231;stSG598232;stSG598234;stSG598235;stSG598236;stSG598237;stSG598238;stSG598239;stSG598240;stSG598243;stSG598244;stSG598245;stSG598246;stSG598248;stSG598250;stSG598252;stSG598253;stSG598254;stSG598255;stSG598256;stSG598257;stSG598258;stSG598259;stSG598260;stSG598262;stSG598263;stSG598264 CAPPA2;CAPZ F-actin capping protein alpha-2 subunit;F-actin-capping protein subunit alpha-2;OTTHUMP00000024803;capZ alpha-2 APPROVED protein-coding ENSG00000198898 1490 11871 601571 REVIEWED 1312685 CARD10 caspase recruitment domain family, member 10 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008] 22 22 q13.1 36216346 36245156 - 37886400 37915210 - 1580863;6480464 11259443;15125833;19112107;18757306;18676680;18349075;17724468;17101977;15489334;15184390;14702039;12477932;11387339;11356195;10591208;20237496;19913121;20628086;20695076;20800603;22884800;21307088;21406399;21078624;21139048;21890473;21906983;22615840;22992343 29775 B0QYC3;B0QYC4;Q8NC81;Q9BWT7 ABBA01055469;ABBA01055470;ABBA01055471;AF086324;AK057334;AK074906;AK296176;AL022315;AL049851;AMYH01012753;AY028896;AY032928;BC032058;BC113659;BC117403;CH471095;FP325335;NM_014550 AAI13660;AAI17404;AAK26165;AAK54454;BAC11282;BAH12273;EAW60163;NP_055365;Q9BWT7 Hs.57973 1677728;1731327;2217104 CARD10_3578;D22S346;RH99263 BIMP1;CARMA3;MGC142219 Bcl10 binding protein and activator of NFKB;CARD-containing MAGUK 3 protein;CARD-containing MAGUK protein 3;OTTHUMP00000197888;OTTHUMP00000197889;OTTHUMP00000197890;carma 3;caspase recruitment domain-containing protein 10 APPROVED protein-coding ENSG00000100065 16422 06233 607209 REVIEWED 1347618 CAPZB capping protein (actin filament) muscle Z-line, beta This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Apr 2011] 1 1 1 p36.1 17992290 18138980 - 19537860 19684579 - 19665267 19812066 - 1580863;6480464 7665558;17353931;16130169;16710414;16678097;16169070;15489334;12665801;22482804;12477932;21319273;12488317;15146197;17643375;19615732;19922875;20379614;16054028;9331217;21565293;14702039;9354614;21182205;22863883;22990118;22939629;22494929;20697350;20876399;20884878;22505724;21844192;19156129;21822214;22266860;18457437;21139048;21890473;21900206;21906983;22118674;16300736;21628590;22234250;22706086;22070227;19738201;22623428;23000965;23084401;23398456;23408906 832 B1AK85;B1AK87;B1AK88;F6Q0E3;F6USW4;P47756;Q7L4N0 ABBA01059758;ABBA01059759;AI799520;AK022336;AK125085;AK126650;AK301442;AK313113;AL035413;AL359199;AL445163;AMYH01000316;BC008095;BC012305;BC024601;BC069031;BC107752;BC109241;BC109242;BE870234;BQ009850;BQ773230;BT019470;BT019471;BX647941;CB267021;CH471134;CN273493;EB387955;NG_029551;NM_001206540;NM_004930;NR_038125;U03271 AAA87395;AAH08095;AAH24601;AAI07753;AAI09242;AAI09243;AAV38277;AAV38278;BAG35935;BAG54137;BAG62968;EAW94888;EAW94889;EAW94890;EAW94891;NP_001193469;NP_004921;P47756 Hs.432760 1659692;1692476;1699622;1758113;1758595;1760063;1781692;1846602;2117682;2140050;5020948;5022450 AL009488;AL033889;D10S275;D1S1674;G35510;RH103414;SHGC-107611;SHGC-147427;SHGC-148894;SHGC-155098;SHGC-175;SHGC-74331 CAPB;CAPPB;CAPZ;DKFZp686K0524;FLJ12274;FLJ44693;MGC104401;MGC129749;MGC129750 Cap Z;F-actin capping protein beta subunit;F-actin-capping protein subunit beta;OTTHUMP00000002652;OTTHUMP00000002653;OTTHUMP00000002654;OTTHUMP00000002656;OTTHUMP00000002657;capZ beta APPROVED protein-coding ENSG00000077549 1491 11872 601572 REVIEWED 1350189 CARD14 caspase recruitment domain family, member 14 This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 17 17 17 q25 74781528 74812042 + 75766876 75797446 + 78143791 78183130 + 1580863;6480464;7240710 22703878;11278692;16189514;15489334;14702039;12477932;11356195;11259443;18029348;19851296;20198315;20237496;16344560;21302310;22521418;22521419;23328365 79092 E7ETJ2;I3L1Z7;I3L3F1;I3L414;I3L4Q8;Q9BXL6 ABBA01015407;ABBA01015408;AC087741;AF322642;AK002138;AK054723;AK091123;AK095416;AK296762;AK309299;AMYH01008692;AMYH01008693;AMYH01008694;AX746790;AY032927;BC001326;BC018142;BU617627;CH471099;DA461380;DB314596;EU652409;NG_032778;NM_001257970;NM_024110;NM_052819;NR_047566 AAG53403;AAH01326;AAH18142;AAK54453;ACF49506;BAG59342;EAW89586;EAW89587;EAW89588;EAW89589;NP_001244899;NP_077015;NP_438170;Q9BXL6 Hs.675480;Hs.696253;Hs.735899 1707610;1710346;1773107;2157958;2219044;5015861;5015961;5016478;5024761;5037552;7185938 A005O39;CARD14_3621;D10S16;D15S1477;D8S2279;GDB:434012;RH36905;RH78492;SHGC-82425;SHGC-84620 BIMP2;CARMA2;FLJ38097;PRP;PSORS2;PSS1 CARD-containing MAGUK 2 protein;CARD-containing MAGUK protein 2;bcl10-interacting maguk protein 2;card-maguk protein 2;carma 2;caspase recruitment domain-containing protein 14 APPROVED protein-coding ENSG00000141527 16446 06235 173200;602723;607211 REVIEWED 1605643 CARD18 caspase recruitment domain family, member 18 11 11 11 q22.3 102172632 102174645 - 104513879 104515663 - 105008448 105010461 - 6480464;6907045 11051551;15383541;12975309;12477932;11821383;21048031 59082 G5EA35;P57730 ABBA01039912;AF208005;AI189838;AMYH01004003;AP003181;AW295205;AY358231;BC131610;CH471065;NM_021571 AAG23528;AAI31611;AAQ88598;EAW67065;NP_067546;P57730 Hs.56279 ICEBERG;UNQ5804;pseudo-ICE ICEBERG caspase-1 inhibitor;OTTHUMP00000232068;caspase recruitment domain-containing protein 18;caspase-1 inhibitor Iceberg protein-coding ENSG00000255501 28861 16099 605354 VALIDATED 1606185 CARD16 caspase recruitment domain family, member 16 11 11 11 102076226 102080224 - 104417263 104421261 - 104912053 104916051 - 6480464 11432859;16920334;16354923;15383541;14702039;12477932;11821383;11536016;19913121;20628086;20479761 114769 E9PQW1;Q5EG05 ABBA01039912;AF367017;AK125640;AK311902;AMYH01004002;AP001153;AY885669;BC033638;BC070196;BC104635;BC117478;BC117480;CH471065;NM_001017534;NM_052889 AAI17479;AAI17481;AAI41474;AAI48761;AAK71682;AAW78563;BAG34843;EAW67062;NP_001017534;NP_443121;Q5EG05 Hs.348365 COP;COP1;PSEUDO-ICE CARD only domain-containing protein 1;CARD only protein;OTTHUMP00000232049;OTTHUMP00000232050;caspase recruitment domain-containing protein 16;caspase-1 dominant-negative inhibitor pseudo-ICE;caspase-1 inhibitor COP;pseudo interleukin-1 beta converting enzyme;pseudo interleukin-1beta converting enzyme protein-coding ENSG00000204397 33701 16740 VALIDATED 1314062 CARD6 caspase recruitment domain family, member 6 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008] 5 5 5 p13.1 40730018 40744065 + 40877167 40891213 + 40841410 40855456 + 1580863;6480464;6907045 17081983;16582588;16418290;12775719;12477932;20025480;21890473 84674 Q6XZE5;Q9BX69 AB209844;ABBA01024225;ABBA01024226;AC008810;AC026732;AF356193;AK304349;AMYH01015049;AY196783;BC093825;CH471119;NM_032587 AAH93825;AAK32718;AAP40637;BAD93081;BAG65193;EAW56006;NP_115976;Q9BX69 Hs.200242 2106455 CARD6_3632 CINCIN1 CARD-containing inhibitor of Nod1 and Cardiak-induced NF-kB activation;OTTHUMP00000120002;caspase recruitment domain protein 6;caspase recruitment domain-containing protein 6 APPROVED protein-coding ENSG00000132357 16394 09871 609986 REVIEWED 1344005 CARM1P1 coactivator-associated arginine methyltransferase 1 pseudogene 1 9 9 9 p24.2 2861811 2971689 - 2895041 3052970 - 2943562 3053404 - 100130873 ABBA01065434;ABBA01065435;ABBA01065436;AL359077;AMYH01019193;AMYH01019194;NG_009935 1340158;1660898;1788410 D9S54;RH65521;fb73h01.x1 CARM1L;KIAA0020 APPROVED pseudo 23392 INFERRED 1351599 CARD8 caspase recruitment domain family, member 8 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 19 19 q13.33 53403325 53444737 - 48711343 48759203 - 1580863;5490210;6480464;6907045 19302047 22128899;15030775;11551959;19319132;19252766;19074885;18841008;18311798;18263599;18212821;18092344;17878386;17595233;17484912;17030188;16796750;15489334;12477932;12067710;11956601;11821383;11408476;10231032;12775719;20385562;21308686;19443463;19664744;19843337;19940360;20182451;20379614;20453000;16712791;20800603;23506543;23507658;23088220;21248762;21621776;22227487;19322201;22087307;23053059 22900 B7Z7N9;E5RFI5;E5RFV9;E5RGC9;E5RGG3;E5RHJ3;E5RHZ3;E5RIN1;E5RJG3;H0YB90;H0YBW7;I6L9C6;Q9Y2G2 AB023172;ABBA01033008;AC008392;AC011466;AF143869;AF322184;AF331519;AF405558;AF511652;AI040349;AK297045;AK297069;AK302327;AK311077;AK311079;AMYH01009900;AY026322;BC034564;BC041697;BC045539;BC046136;BC056891;BX641091;BX648568;CA448628;CB119078;CH471177;DC404273;EU118120;EU118121;EU118122;NG_029574;NM_001184900;NM_001184901;NM_001184902;NM_001184903;NM_001184904;NM_014959;NR_033678;NR_033679;NR_033680 AAG50014;AAH45539;AAH56891;AAK01126;AAK08982;AAL02427;AAM46959;ABW96891;ABW96892;ABW96893;BAA76799;BAH12482;BAH12488;BAH13675;CAE46043;EAW52319;EAW52320;EAW52321;EAW52322;EAW52323;EAW52324;EAW52325;NP_001171829;NP_001171830;NP_001171831;NP_001171832;NP_001171833;NP_055774;Q9Y2G2 Hs.446146;Hs.655940 1672611;1672613;1847412;2118115;2132097;5016478;5021228;5024761 D19S1010;D19S1113;GDB:312794;GDB:434012;RH16607;RH36905;SHGC-33567;WI-14251 CARDINAL;DACAR;DKFZp779L0366;Dakar;FLJ18119;FLJ18121;KIAA0955;MGC57162;NDPP;NDPP1;TUCAN CARD inhibitor of NF-kappaB-activating ligands;OTTHUMP00000228260;OTTHUMP00000228262;OTTHUMP00000228264;OTTHUMP00000228265;OTTHUMP00000228267;OTTHUMP00000228271;OTTHUMP00000228272;OTTHUMP00000228273;apoptotic protein NDPP1;caspase recruitment domain-containing protein 8;tumor up-regulated CARD-containing antagonist of CASP9;tumor up-regulated CARD-containing antagonist of caspase nine APPROVED protein-coding ENSG00000105483 17057 16425 609051 REVIEWED 732385 CARD9 caspase recruitment domain family, member 9 The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 109773344 109783069 - 138378229 138387939 - 139258408 139268133 - 1299399;1580863;6480464;6907045;7240710 11053425 22423967;17187069;18439550;17936701;15489334;15164053;14702039;12477932;11259443;16189514;20228799;19809088;19864672;19915572;20237496;20463747;21102463;21297633;21425313;21436691;21881131;21985303;22013052;21743469;22936669;23017229;23128233;23251661 64170 Q9H257 ABBA01022705;AF311287;AK024001;AK127481;AK292081;AK295647;AK309043;AL592301;AMYH01021861;BC008877;BC035805;BI524042;BM148244;CH471090;NG_021197;NM_052813;NM_052814 AAG28790;AAH08877;ABM84452;ABW03582;BAB14766;BAF84770;BAG58517;EAW88219;EAW88220;EAW88221;EAW88222;EAW88223;EAW88224;NP_434700;NP_434701;Q9H257 Hs.694071 CANDF2;hCARD9 OTTHUMP00000022569;OTTHUMP00000022571;caspase recruitment domain protein 9;caspase recruitment domain-containing protein 9 APPROVED protein-coding ENSG00000187796 16391 06236 212050;607212 REVIEWED 5683648 CARS-AS1 CARS antisense RNA 1 p15.4 14702039 100852407 AC108448;AC131971;AK093033 Hs.274873 APPROVED miscrna 40125 1315654 CARF calcium responsive transcription factor 2 2 2 q33.2 197529656 197603774 + 203485223 203559305 + 203776978 203851060 + 1580863;6480464 18555516;16344560;16189514;15815621;15489334;14702039;12477932;12154087;11832226;11586298;8125298;21832049;22446626 79800 B4DIA7;B4DIN8;C9JBK9;C9JCD6;C9JI92;C9JL40;C9JN29;C9JSN4;C9JT99;C9JZ91;C9JZI6;F6SXV3;F8WC01;F8WDH0;F8WDW1;G3V1K7;Q8N187 AB053309;AB053310;ABBA01062591;ABBA01062592;AC010900;AF454946;AK022737;AK025232;AK225218;AK295499;AK295703;AK299366;AK304014;AK308171;AK310640;AK316432;AL834188;AMYH01011415;AV751848;AY032876;BC021999;BC033777;CH471063;CK825814;DB094349;NM_001104586;NM_024744 AAH33777;AAK66819;AAL62330;AAY24288;ABM82274;ABM85454;BAB15088;BAB69018;BAB69019;BAG58419;BAG58550;BAG61358;BAG64929;BAH14803;CAD38882;EAW70320;EAW70321;EAW70322;EAW70323;EAW70324;NP_001098056;NP_079020;Q8N187 Hs.444982 1720579;1727833;1728863;2106419;2173767;5015961;5037552 ALS2CR8__4290;D15S1477;D8S2279;G31883;G54493;G59244;G63182 ALS2CR8;CARF;DKFZp667N246;FLJ12675;FLJ21579;NYD-SP24 OTTHUMP00000205931;OTTHUMP00000205969;OTTHUMP00000205971;OTTHUMP00000205972;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein;calcium-response factor;calcium-responsive transcription factor;testis development protein NYD-SP24 APPROVED protein-coding ENSG00000138380 14435 10464 607586 VALIDATED 1601864 CARKD carbohydrate kinase domain containing 13 13 13 q34 92114056 92138392 + 110066009 110090344 + 111267807 111292343 + 6480464 16344560;14702039;12477932;11042152;8125298;20379614;20877624;21906983 55739 B4DQR1;B7Z3Q0;Q8IW45 ABBA01026993;AF091088;AF151071;AK001631;AK024260;AK057767;AK058043;AK091867;AK093771;AK225129;AK296227;AK296758;AK298917;AK302117;AL139385;AMYH01005378;BC005150;BC006416;BC041028;BQ955656;CH471085;DA175011;DA435066;DA815628;NM_001242881;NM_001242882;NM_001242883;NM_018210;NR_040103;NR_040104 AAC72957;AAF36157;AAH41028;BAA91797;BAB14863;BAG52761;BAG59339;BAG61023;BAG63496;BAH12286;EAX09114;EAX09115;EAX09116;EAX09117;EAX09118;EAX09119;EAX09120;EAX09121;EAX09122;EAX09123;EAX09124;EAX09125;NP_001229810;NP_001229811;NP_001229812;NP_060680;Q8IW45 Hs.408324 1737515;1768632;1847986;1848257 Cda0ch07;D13S1047;D13S1152;SHGC-37618 FLJ10769;FLJ34548;FLJ52550;LP3298 ATP-dependent (S)-NAD(P)H-hydrate dehydratase;ATP-dependent NAD(P)HX dehydratase;OTTHUMP00000018702;carbohydrate kinase domain-containing protein protein-coding ENSG00000213995 25576 07698 VALIDATED 2301770 CARNS1 carnosine synthase 1 CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010] 11 11 11 q13.2 64516258 64526190 + 66939725 66949654 + 67183149 67193078 + 6907045 12477932;10718198;12421765;20097752 57571 A5YM72;B4DFC6;E9PK38;F5H427 AB037815;ABBA01024034;AK289938;AK294035;AK295331;AMYH01003747;AP003419;BC036557;CH471076;EF560746;NM_001166222;NM_020811 A5YM72;AAH36557;ABQ59056;BAA92632;BAF82627;BAG57387;BAG58305;EAW74617;NP_001159694;NP_065862 Hs.502982 1852157;2183221;5014053 D1S3693;RH41924;RH78502 ATPGD1;KIAA1394 ATP-grasp domain containing 1;ATP-grasp domain-containing protein 1;OTTHUMP00000236403;OTTHUMP00000236404;carnosine synthase 1 APPROVED protein-coding ENSG00000172508 29268 613368 VALIDATED 1322554 CASC1 cancer susceptibility candidate 1 12 12 12 p12.1 30408204 30495049 - 25152490 25239361 - 25261223 25348094 - 737633;6480464 12477932 18299280;16410263;14702039;14583591;8889548;20734064;20639392;16344560;22990118 55259 F5H555;F8W8F9;G3V2J3;G3V333;G3V3G6;H0YJM7;Q6TDU7 ABBA01068015;ABBA01068016;ABBA01068017;AC023510;AC092794;AK001783;AK093102;AK297998;AK301763;AK302235;AK304602;AMYH01004339;AY423543;BC028415;BC031047;BC047415;BC057795;BC117281;BC117283;BM979714;CH471094;DA753279;NM_001082972;NM_001082973;NM_001204101;NM_001204102;NM_018272 AAH28415;AAH47415;AAH57795;AAI17282;AAI17284;AAQ93499;BAA91908;BAG52654;BAG60304;BAG63223;BAG63589;BAG65388;EAW96507;EAW96508;EAW96509;NP_001076441;NP_001076442;NP_001191030;NP_001191031;NP_060742;Q6TDU7 Hs.407771 1689091;1705476;1754055;2107281;2109109;2118361;2129902;2144912;2154617 CASC1_9888;D12S1350E;LRMP_7815;RH17991;RH45039;RH92803;SHGC-132095;SHGC-83826;STS-AA005176 FLJ10921;LAS1;PPP1R54 OTTHUMP00000196569;OTTHUMP00000196570;OTTHUMP00000196571;OTTHUMP00000196572;OTTHUMP00000245368;OTTHUMP00000245369;cancer susceptibility candidate protein 1;lung adenoma susceptibility 1-like protein;protein phosphatase 1, regulatory subunit 54 protein-coding ENSG00000118307 29599 16684 VALIDATED 733909 CARHSP1 calcium regulated heat stable protein 1, 24kDa 16 16 16 p13.2 9113576 9129635 - 8854303 8870364 - 8946802 8962863 - 1299427;6480464 9712905 12107410;12801884;17081983;16964243;16083285;15489334;15302935;14702039;12477932;11842224;15910284;16169070;21078874;21177848;22939629;21900206;21990353;16344560;8889548;21139048;21890473 23589 H3BNU9;H3BPY5;H3BQY0;H3BSW7;H3BTK3;H3BUY4;I3L3X8;Q9Y2V2 ABBA01019732;AC022167;AF115345;AK093698;AK311777;AMYH01007139;AMYH01007140;BC000782;BC001333;BC003366;BC108283;BM693675;BM920489;BQ004670;CA396216;CH471112;DA736976;DB101255;DB446945;HY005510;HY090855;NM_001042476;NM_001278260;NM_001278261;NM_001278262;NM_001278263;NM_001278264;NM_001278265;NM_001278266;NM_014316 AAD25021;AAH03366;AAI08284;ACE86631;ACE87313;BAG34720;EAW85196;EAW85197;EAW85198;EAW85199;NP_001035941;NP_001265189;NP_001265190;NP_001265191;NP_001265192;NP_001265193;NP_001265194;NP_001265195;NP_055131;Q9Y2V2 Hs.632184 1767254;1849818;2109107;2163501;5014051;5014740;5021872;5022578;5022651;5118444 A005C19;CARHSP1_9377;D11S2921;D11S3316;D17S610;D1S1423;D8S2278;RH70769;STS-W72753;sY3084 CRHSP-24;CSDC1;MGC111446 OTTHUMP00000160107;calcium regulated heat stable protein 1;calcium-regulated heat stable protein 1;calcium-regulated heat-stable protein (24kD);calcium-regulated heat-stable protein of 24 kDa protein-coding ENSG00000153048 17150 08515 VALIDATED 1314176 CARM1 coactivator-associated arginine methyltransferase 1 Protein arginine N-methyltransferases, such as CARM1, catalyze the transfer of a methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins to form methylated arginine derivatives and S-adenosyl-L-homocysteine. Protein arginine methylation has been implicated in signal transduction, metabolism of nascent pre-RNA, and transcriptional activation (Frankel et al., 2002 [PubMed 11724789]).[supplied by OMIM, Mar 2008] 19 19 p13.2 10843253 10894448 + 10982253 11033448 + 1359044;2293206;2326123;5128512;6480464;7242552 15866169;15221992;17163421;16394250;21074527 14966289;16344550;17124247;19725955;20360387;17898714;19183483;18950845;18660489;18172323;17882262;17640894;17218272;17043108;17005681;16923966;16705743;16497732;16330542;16254053;15944154;15731352;15616592;15489334;15471871;15096520;14500758;12498683;12477932;12374746;12237300;11850402;11751582;11724789;10381882;9110174;8619474;11050077;15186775;15383283;21145461;21282336;20213728;20462455;19188441;17053781;20932315;11701890;11747826;11983685;11997499;18280497;18413343;18511550;14729568;17403666;17882261;19405910;19660582;20111005;20811636;21478268;22863883;21030982;21139048;21242974;21445011;21890473;21903422;21906983;19322201;21628590;22046437;22179613;22451921;19101556;20085233;21963094;21988832;23000965;23265702;23349634;23505388;22053931;22190034;22505724 10498 K7EIQ8;K7EK20;K7EPK1;K7EQA8;K7EQB9;K7ERM3;Q86X55 ABBA01029885;ABBA01029886;ABBA01029887;ABBA01029888;AC007565;AC011442;AF055027;AL833242;AMYH01009480;BC036886;BC046240;BC070496;BU176535;CH471106;NM_199141 AAH46240;AAI56436;AAI72490;EAW84155;EAW84156;NP_954592;Q86X55 Hs.323213 1657748 STS-AA004344 PRMT4 histone-arginine methyltransferase CARM1;protein arginine N-methyltransferase 4 APPROVED protein-coding ENSG00000142453 23393 09158 603934 VALIDATED 1348766 CASC10 cancer susceptibility candidate 10 10 10 10 p12.31 21471245 21474037 - 21823427 21826197 - 21783421 21786213 - 6480464 16344560;15164054;12477932;19322201;21804547;23535730 399726 Q5T4H9 ABBA01034498;AL358780;AMYH01002172;BC040880;BC130594;BC132974;CH471072;DA401077;NM_001010911 AAI30595;AAI32975;EAW86170;NP_001010911;Q5T4H9 Hs.315568 bA418C1.3 OTTHUMP00000019273;putative uncharacterized protein C10orf114 APPROVED protein-coding 31448 16574 VALIDATED 7245365 CASC16 cancer susceptibility candidate 16 (non-protein coding) 16 q12.1 52585999 52640887 - 12477932;17529967;17529974;19304784;19330030;19398914;20054709;20213080;20332101;20406955;20453838;20585626;20872241;21263130;21779176;23001122 643714 ABBA01066476;AC026462;AMYH01007673;AX971948;BC029912;BC034767;CH471092;DB462404;DB523777;NR_033920 CAF17056;EAW82788 Hs.662199 1701084;1719301;1769438;1787652;1856088;2117680 D16S2950;RH104169;RH123373;SHGC-156094;SHGC-60775;SHGC-60806 APPROVED miscrna ENSG00000249231 48608 VALIDATED 5488961 CASC4P1 cancer susceptibility candidate 4 pseudogene 1 13 20131972 20139336 - 100420689 ABBA01068556;AL359457;AMYH01004939;NG_024833 pseudo 39251 INFERRED 1321833 CARS cysteinyl-tRNA synthetase This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010] 11 11 p15.5 2978735 3035247 - 3022152 3078681 - 1580863;6480464 17303165;10908348;7987009;16344560;15592455;15489334;14702039;12477932;12112524;11347887;8468064;8125298;20834067;18029348;19041431;19252134;20201924;20306291;20460425;19394292;22863883;21832049;21139048;21906983;21963094 833 A8MVQ3;B4DKY1;B4DPV7;C9JLN0;E9PLP0;E9PPK8;E9PRS8;P49589 AB208814;ABBA01032074;AC108448;AC131971;AF288206;AF288207;AI432096;AI608729;AK096313;AK125503;AK126135;AK131221;AK222614;AK289432;AK295371;AK296763;AK298514;AK302644;AK308005;AMYH01003326;AMYH01003327;AU133264;BC002880;BT009913;BX647906;CH471158;DC376478;L06845;NM_001014437;NM_001194997;NM_001751;NM_139273;NR_036542 AAA73901;AAG00578;AAG00579;AAH02880;AAP88915;ABM81699;BAD92051;BAD96334;BAF82121;BAG53256;BAG58331;BAG59343;BAG60719;BAG63885;CAI46108;EAX02536;EAX02537;EAX02538;EAX02539;EAX02540;EAX02541;NP_001014437;NP_001181926;NP_001742;NP_644802;P49589 Hs.274873 1720901;1737825;2132956;2166752;5024756;5113398 A006N36;D11S3440;G59279;RH27287;RH48478;RH80030 CARS1;CYSRS;MGC:11246 OTTHUMP00000012604;OTTHUMP00000012605;OTTHUMP00000012668;cysteine tRNA ligase 1, cytoplasmic;cysteine translase;cysteine--tRNA ligase;cysteine--tRNA ligase, cytoplasmic;cysteine-tRNA ligase;cysteinyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000110619 1493 00464 123859 REVIEWED 1606504 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative) 13 13 13 q34 92139805 92204660 - 110091760 110156464 - 111293757 111358480 - 6480464 16344560;15779907;15489334;15057823;14702039;12477932;20379614;20877624 79587 B7Z7E6;F5H579;F5H623;H0YFF0;H0YFV1;H0YGF2;Q9HA77 AB062436;ABBA01026991;ABBA01026992;ABBA01026993;AK022180;AK091992;AK092947;AK124505;AK301907;AL139385;AL157820;AMYH01005378;BC007220;BE464542;BX648882;BX649191;CH471085;DA966145;NM_024537 AAH07220;BAB13978;BAB93499;BAH13582;CAE46210;CAH10378;EAX09126;NP_078813;Q9HA77 Hs.508725 1718801;1725533;1738421;1739625;2121522 D13S1213E;D13S675E;RH119165;RH123104;RH45363 DKFZp667A2315;DKFZp686G08243;FLJ12118;FLJ42514 OTTHUMP00000018707;cysRS;cysteine tRNA ligase 2, mitochondrial (putative);cysteine--tRNA ligase;probable cysteine--tRNA ligase, mitochondrial;probable cysteinyl-tRNA synthetase, mitochondrial protein-coding ENSG00000134905 25695 07763 612800 VALIDATED 7247384 CASC8 cancer susceptibility candidate 8 (non-protein coding) 16682969;17401363;17401366;18372901;19767754 727677 ABBA01037942;ABBA01037943;AC016883;AMYH01019014;DQ515896;DQ515897;DQ515898;DQ515899;NR_024393 Hs.673248;Hs.736625 LINC00860 miscrna ENSG00000246228 45129 VALIDATED 1605714 CARTPT CART prepropeptide This gene encodes a secreted protein which is processed by prohormone/proprotein convertases to produce smaller, biologically active peptides. Expression of the transcript for this gene is regulated by certain drugs such as cocaine, and the encoded protein is thought to be involved in the regulation of appetite and stress. Mutations in this gene are associated with susceptibility to obesity.[provided by RefSeq, Nov 2009] 5 5 q13.2 71050750 71052628 + 71014990 71016875 + 1625192;2313632;2313633;2313634;6480464 11522684;16443761;10805512;10574510 10235641;15908120;11711504;15680948;11478874;16614075;8647455;19356602;19110485;19086053;19077438;19058789;18572320;17631364;17525122;17105939;17008116;16309793;16210370;16146347;16102267;15823203;15597110;15489334;15340161;15326462;15234472;12654232;12477932;12147208;11857741;11791158;10905499;9590691;22257587;22139072;19913121;20628086;16784796;19874574;19876004;20151954;20186155;20362026;20468064;8889548;23086924;22332848;21605873;22235287;21832817;21921635;21803054;22553341;21982860;22436349;23034261 9607 Q16568 ABBA01061898;AC143336;AI417979;AMYH01015401;BC029882;CH471084;CK300473;CR542216;NG_015988;NM_004291;U16826;U20325 AAB08010;AAB08011;AAH29882;ACE86636;ACE87318;CAG47012;EAW95694;NP_004282;Q16568 Hs.1707 1655832;1655834;2113792;2166151;2218336 CART;CART_3224;D5S2377;STS-U16826;WI-19012 CART OTTHUMP00000161935;cocaine and amphetamine regulated transcript;cocaine- and amphetamine-regulated transcript protein APPROVED protein-coding ENSG00000164326 24323 04006 602606 REVIEWED 1349507 CASC2 cancer susceptibility candidate 2 (non-protein coding) 10 10 10 q26.11 113536133 113700235 + 119795800 119848012 + 119806332 119969665 + 15024726;14702039;12477932 255082 Q6XLA1;Q8IU53 ABBA01062935;ABBA01062936;AC005879;AC022395;AI219353;AJ344228;AJ535620;AJ535621;AJ535622;AK055184;AMYH01003104;AMYH01003105;AMYH01003106;AY226450;AY226451;BC036393;BC112306;BC112308;BC112326;CH471066;NR_026939;NR_026940;NR_026941 AAP48615;CAC83044;CAD59605;CAD59606;CAD59607;EAW49419;EAW49420;EAW49421;EAW49422;Q6XLA1;Q8IU53 Hs.89387 1334689;1338553;1654197;1678005;1683553;1722489;1723329;1766733;1770153;1779258;1781232;1846943;2110305;2142524;2179294 CASC2__4511;D10S1236;D10S190;G60168;RH118480;RH44845;RH45265;RH91959;RH93245;SHGC-152014;SHGC-153065;SHGC-35089;U64663;U75536;stSG68076 C10orf5;MGC117219 APPROVED miscrna ENSG00000177640 22933 12266 608598 VALIDATED 7247327 CASC9 cancer susceptibility candidate 9 (non-protein coding) q21.11 12477932;15146197 101805492 AI205540;BC062758;BE866214;CN273839;CN418510;CX870402;NR_103848;NR_103849;NR_103850 Hs.571424 LINC00981 miscrna 48906 VALIDATED 6481396 CASK-AS1 CASK antisense RNA 1 100873928 AL445239 APPROVED miscrna 40126 7247421 CASC7 cancer susceptibility candidate 7 (non-protein coding) 12477932;14702039 286109 AK092172;BC033700 Hs.660189;Hs.743313 LINC00980 long intergenic non-protein coding RNA 980 protein-coding 48905 1603284 CASC4 cancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010] 15 15 15 q15.3 21470694 21597720 + 42368221 42495247 + 44580909 44707959 + 6480464 14702039;12975309;12845212;12764679;12477932;10497265;16344560;17207965;21832049;15604093;19322201 113201 H0YKJ7;H0YM51;H0YMR0;H0YN36;Q6P4E1 ABBA01039208;ABBA01039209;ABBA01039210;ABBA01039211;ABBA01039212;ABBA01039213;ABBA01039214;AC025043;AC090519;AF103804;AK022565;AK095068;AK098265;AK291026;AK298564;AL832333;AL832840;AMYH01006610;AY358086;BC012124;BC041786;BC063480;BG327802;BI467176;CH471082;DB229269;NM_138423;NM_177974 AAH12124;AAH63480;AAQ88453;ADQ32536;BAC05272;BAF83715;BAG60758;EAW77257;EAW77258;EAW77259;EAW77260;EAW77261;EAW77262;EAW77263;EAW77264;NP_612432;NP_816929;Q6P4E1 Hs.512867 1650321;1682093;2119421;2156903;5014051;5020948;5024761;5037552;5109396;5127223 D15S628E;D8S2278;D8S2279;G17838;G35510;RH27235;RH36905;RH47707;SHGC-58376;STS-AA016055 DKFZp459F1927;H63;MGC74708 OTTHUMP00000161778;OTTHUMP00000161779;cancer susceptibility candidate gene 4 protein;gene associated with HER-2/neu overexpression;protein CASC4 APPROVED protein-coding ENSG00000166734 24892 11018 REVIEWED 1603612 CASD1 CAS1 domain containing 1 7 7 7 q21.3 88837411 88884573 + 93977120 94024216 + 94139170 94186331 + 6480464 14702039;12477932;11703667;11528394;20947662;19322201 64921 C9JDR3;F8WDQ7;F8WDW8;Q8WZ77;Q96PB1 AACC02000014;AB073397;ABBA01045782;AC002528;AC096662;AF355594;AF397424;AK024866;AK025532;AK123866;AK123895;AK314329;AMYH01017696;BC029543;BC050313;BC063284;CH236949;CH471091;NM_022900 AAB69978;AAH63284;AAK97479;AAL33538;BAB15028;BAB15163;BAE45726;BAG36976;BAG53975;EAL24136;EAW76789;EAW76790;EAW76791;EAW76792;EAW76793;NP_075051;Q96PB1 Hs.260041 1649659;2172634;5094402;7186332 D7S1434;G54776;STS-R16109 C7orf12;FLJ21213;FLJ21879;FLJ41901;NBLA04196 CAS1 domain-containing protein 1;O-acetyltransferase;OTTHUMP00000163031;WUGSC:H_GS542D18.2 protein-coding ENSG00000127995 16014 13004 611686 VALIDATED 1344893 CASKP1 calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1 Y Y Y q11 2035221 2053549 - 13551059 13569586 - 15041766 15060093 - 12815422 10029 ABBA01065592;ABBA01065593;AC004474;NG_002805 1746047 G49204 CASKP APPROVED pseudo 1498 INFERRED 1353876 CASC3 cancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008] 17 17 q21.1 35550033 35581957 + 38296507 38328431 + 1580863;6480464;6907045 12080473;18332872;17652158;17081983;16931718;16495234;16344560;16314458;16170325;15489334;15166247;14973490;14702039;12843282;12477932;11980659;7490069;15680326;21145461;18029348;16923391;16601204;23084401;21327427;21988832;22094256;23530232;21139048;21906983;19322201;22318606;22190034;19410547 22794 J3KSY7;J3QSC4;K7EQ38;O15234 ABBA01031840;ABBA01031841;ABBA01031842;AC068669;AK096126;AK292425;AK296682;AK310635;AMYH01008381;AMYH01008382;BC030008;BC044656;BC050526;CA427444;CH471152;DB082647;NM_007359;X80199 AAH44656;AAH50526;BAF85114;BAG59278;CAC27699;EAW60643;EAW60644;NP_031385;O15234 Hs.743287 1734450;1734474;1770838;1770840;2114988 A002D45;D17S1417E;D17S1436E;G19968;SGC31792 BTZ;MLN51 MLN 51;OTTHUMP00000164448;barentsz;cancer susceptibility candidate gene 3 protein;metastatic lymph node 51;metastatic lymph node gene 51 protein;protein CASC3;protein barentsz APPROVED protein-coding ENSG00000108349 17040 16225 606504 REVIEWED 1603976 CASC5 cancer susceptibility candidate 5 The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] 15 15 q14 38673739 38742173 + 40886447 40954881 + 6480464;7240710 15502821;15579588;10980622;18771174;18045986;17981135;17081983;16565220;12618768;12618766;12477932;12087463;10997877;10780384;8700511;15371340;16622420;22660415;15231748;20231380;21199919;21272090;19141287;22983954;18029348;19389623;19471022;20231385;15824131;21963094;20360068;22000412;22193957;21139048;21693764;21906983;20301772;23667531;20220147;22505724 57082 E9PPJ1;H0YCZ2;H0YEY7;H0YN41;Q8NG31 AB022190;AB046790;ABBA01038440;ABBA01038441;ABBA01038442;AC022405;AF173994;AF248041;AF461041;AK307605;AK307996;AMYH01006563;BC014306;BC029373;BC043597;BQ776141;CH471125;NG_033114;NM_144508;NM_170589;U52052 AAF97513;AAH29373;AAI72422;AAL67803;AAM45143;BAB13396;BAC05691;EAW92429;EAW92430;NP_653091;NP_733468;Q8NG31 Hs.181855 1335756;1654801;1670284;1688636;1712761;1718487;2111264;2152406 D15S506;D20S867;RH120094;RH122445;RH93617;SGC44363;SHGC-44363;STS-T81591 AF15Q14;CT29;D40;KIAA1570;KNL1;MCPH4;PPP1R55;Spc7;hKNL-1;hSpc105 ALL1-fused gene from chromosome 15q14 protein;OTTHUMP00000233260;OTTHUMP00000233262;OTTHUMP00000233428;blinkin, bub-linking kinetochore protein;bub-linking kinetochore protein;cancer susceptibility candidate gene 5 protein;cancer/testis antigen 29;kinetochore null 1 homolog;kinetochore-null protein 1;protein CASC5;protein phosphatase 1, regulatory subunit 55 protein-coding ENSG00000137812 24054 10634 604321;609173 REVIEWED 1342676 CASP13 caspase 13, apoptosis-related cysteine protease 9624166 338022 AF078533 1501 1348077 CASP12 caspase 12 (gene/pseudogene) Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011] 11 11 q22.3 104262627 104274607 - 104756445 104769397 - 2311450;2311451;2311485;1299333;2311466;2311453;2311461;2311467;2311449;2311454;2311455;2311458;2311470;6480464 19215662;15855338;14675152;12598725;16847061;18787714;18273070;16574987;19301230;18675883;18603371;19406177;16092975 19447924;18791174;18332441;17574210;16917906;16532395;15129283;15033764;14532116;12975309;12054529;9038361;11278723;11943137;20577092;19721713;20031604;20041182;20299359;20299368;20423816;11329013;20646990;21872999;18329614;18710920;21706251 100506742 D6RAQ6;D6RBW4;D6RC33;D6RG27;D6RIR9;D6RJG1;Q6UXS9 ABBA01039913;ABBA01039914;AF464191;AF464192;AF464193;AF464194;AF464195;AF486844;AF486845;AF486846;AF486847;AMYH01004001;AMYH01004002;AP002004;AY358222;BG183061;NG_028201;NM_001191016;NR_034061;NR_034063;NR_034064;NR_034065;NR_034066;NR_034067;NR_034068;NR_034070;NR_034071 AAQ88589;NP_001177945;Q6UXS9 Hs.476989 CASP-12;CASP12P1 OTTHUMP00000207026;OTTHUMP00000207028;OTTHUMP00000207029;OTTHUMP00000207030;OTTHUMP00000207031;OTTHUMP00000207032;OTTHUMP00000212525;OTTHUMP00000219058;caspase 12;caspase 12 pseudogene 1;inactive caspase-12 APPROVED protein-coding ENSG00000204403 19004 608633 REVIEWED 733678 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X p11.4 41264287 41667212 - 41374187 41782287 - 734690;1580863;6480464;6484113;7240710 9722958 11120739;9660868;19200522;19165920;19125693;18664494;18629876;18423203;17287346;16842202;16637659;15694377;15673434;15331416;15066269;15024025;14960569;14702039;14627983;12641734;12522552;12511555;12477932;12351654;12202822;12151522;12151521;12110687;12093160;12040031;12006486;11880184;11742811;11679592;11377421;11356864;11036064;11003712;10993877;10856295;10749215;10460248;9952408;9822620;9753324;9660869;9546224;9225980;8786425;19019082;12676536;15729360;10455105;16688213;19615732;19736351;19781660;19847910;20006588;20623620;20029458;21855798;15123239;23165780;21763699;15231748;19523119;21988832;21735175;21954287;21890473;21906983;21139048;19322201;21590270;22389404;22452838;22709267 8573 F8W998;H9KV37;Q5JS72;Q5JS74;Q5JS79;Q5VT18 AB039327;AB208859;ABBA01046606;ABBA01046607;ABBA01046608;ABBA01046609;ABBA01046610;ABBA01046611;ABBA01046612;ABBA01046613;ABBA01046614;ABBA01046615;ABBA01046616;ABBA01046617;ABBA01046618;ABBA01046619;ABBA01046620;ABBA01046621;ABBA01046622;ABBA01046623;ABBA01046624;ABBA01046625;ABBA01046626;ABBA01046627;ABBA01046628;ABBA01046629;ABBA01046630;ABBA01046631;ABBA01046632;ABBA01046633;ABBA01046634;ABBA01046635;ABBA01046636;ABBA01046637;ABBA01046638;ABBA01046639;ABBA01046640;ABBA01046641;ABBA01046642;ABBA01046643;ABBA01046644;ABBA01046645;ABBA01046646;ABBA01046647;ABBA01046648;ABBA01046649;ABBA01046650;ABBA01046651;ABBA01046652;ABBA01046653;ABBA01046654;ABBA01046655;ABBA01046656;ABBA01046657;AF032119;AF035582;AF262404;AF262405;AK025872;AK056476;AK313399;AL158144;AL353691;AL445239;AL603754;AL627402;AMYH01022234;AMYH01022235;AY705392;BC029936;BC035990;BC117311;BC143454;BC143456;CH471141;DN993605;NG_016754;NM_001126054;NM_001126055;NM_003688 AAB88125;AAB88198;AAF72666;AAF72667;AAI17312;AAI43455;AAI43457;AAU10527;ADR83272;BAB12252;BAD92096;EAW59390;EAW59391;EAW59392;EAW59393;NP_001119526;NP_001119527;NP_003679;O14936 Hs.495984 1336894;1659736;1667537;1671790;1677128;1688354;1701874;1702962;1711828;1732415;1787294;1791075;1797626;1797658;1848730;1855503;2106969;2159637;2177132 CASK__4512;DXS1387;DXS1392;DXS1694;DXS8113;G49441;GPR34_2219;GPR82_2567;L77315;RH17463;RH27222;RH68671;RH69317;RH78452;RH98899;SHGC-146100;SHGC-35026;SHGC-35951;UniSTS:256961 CAGH39;CAMGUK;CMG;FGS4;FLJ22219;FLJ31914;LIN2;MICPCH;MRXSNA;TNRC8 OTTHUMP00000023157;OTTHUMP00000023159;OTTHUMP00000023160;OTTHUMP00000023161;OTTHUMP00000023162;OTTHUMP00000226872;calcium/calmodulin-dependent serine protein kinase;calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase;hCASK;peripheral plasma membrane protein CASK;protein lin-2 homolog;trinucleotide repeat containing 8 APPROVED protein-coding ENSG00000147044 1497 02164 300172;300422;300749 REVIEWED 6480923 CASP1P1 caspase 1, apoptosis-related cysteine peptidase pseudogene 1 11 104993948 104994070 - 100874457 ABBA01039912;AMYH01004003;AP001153;NG_032566 pseudo 43775 INFERRED 5688830 CASP1P2 caspase 1, apoptosis-related cysteine peptidase pseudogene 2 11 q22.3 104934074 104941595 - 19773279 440067 ABBA01039912;AMYH01004002;AP001153 pseudo 43776 MODEL 1351061 CASKIN1 CASK interacting protein 1 16 16 16 p13.3 2441604 2476669 - 2167185 2186466 - 2227184 2246465 - 632380;1580863;6480464 12040031 12477932;10718198;14968112;15032605;21763699;22153505;20881960 57524 Q8WXD9 AB037727;ABBA01030269;ABBA01030270;ABBA01030271;AC009065;AF451977;AMYH01007053;AMYH01007054;BC042011;CH471112;NM_020764 AAH42011;AAL49758;BAA92544;EAW85543;EAW85544;EAW85545;NP_065815;Q8WXD9 Hs.643537 1662992;1664128;1683166;1688514;1722265;1736574;1745955;1778320;2142045;2146291 AI481330;Bdac6f06;D16S2568E;G60043;RH79588;RH98228;SHGC-61344;STS-W72364;STS-W86181;WIAF-1628 ANKS5A CASK-interacting protein 1;caskin-1 protein-coding ENSG00000167971 20879 10809 612184 VALIDATED 5688833 CASP1P3 caspase 1, apoptosis-related cysteine peptidase pseudogene 3 11 104966165 104968316 - 100422634 ABBA01039912;AMYH01004003;AP001153;NG_024409 1652545 STS-N29857 pseudo 43777 INFERRED 5683667 CASP3P1 caspase 3, apoptosis-related cysteine peptidase pseudogene 1 1 p31.1 71126337 71126944 - 100131616 ABBA01074476;AL592104;AMYH01000700;NG_022722 pseudo 43596 INFERRED 1320238 CASKIN2 CASK interacting protein 2 This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 17 17 17 q25.1 70090213 70105647 - 71007937 71023222 - 73496342 73511627 - 632380;1580863;6480464 12040031 19531213;17081983;16344560;16094384;15592455;15489334;12477932;10574461;21139048;21805519 57513 J3QKS3;J3QRN1;Q8WXE0 AB032965;ABBA01028787;ABBA01028788;AC100787;AF451976;AK025262;AK300354;AK315936;AMYH01008635;BC032359;BC066643;BM994645;CH471099;DA105579;DA336467;DA538297;DC318119;NG_033152;NM_001142643;NM_020753 AAH66643;AAL49757;BAA86453;BAG62095;BAH14307;EAW89278;NP_001136115;NP_065804;Q8WXE0 Hs.274408 1686118;1758471;2153425 RH25408;RH71445;SHGC-148423 ANKS5B;FLJ21609;KIAA1139 CASK-interacting protein 2;caskin-2 protein-coding ENSG00000177303 18200 09872 612185 REVIEWED 1347736 CASP10 caspase 10, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 2 2 q33-q34 201755866 201802355 + 202047621 202094129 + 1580863;2314187;6480464;6484113;6907045;7240710 17082813 8755496;10412980;11717445;11048727;19423537;19414860;19269008;19219602;19141860;19074885;18823309;18716417;18676680;18563783;18381704;17999750;17822854;17623017;17534194;17450141;17085968;17071630;16767158;16446975;16251207;16186808;15772077;15767684;15735701;15500642;15452117;15069192;14761933;14759258;14688482;14687710;12887920;12527898;12477932;12388546;12198154;12037669;12010812;11973654;11583996;11395500;11161814;11098060;10734073;10716992;10432301;10187817;9792675;9337844;9325248;9289491;9228018;9208847;9153302;9045686;8962078;8521391;8125298;3031469;1171445;170210;11002417;15659383;11832478;12884866;15280356;17159907;17479112;19166881;19170196;19380486;19550122;19604093;19625176;19641626;19692168;19773279;19784808;19826114;19861680;19900088;19902255;20025484;20402676;20453000;20800603;20802294;20855536;20959405;20978178;21048031;20644561;20661084;20829884;16344560;21454616;21368896;22782902;21139048;21559821;20301287;21911414;22683265;22864571;23212337;22843554;20467438;21988832 843 B4E3T5;Q68HC0;Q92851 AB038979;ABBA01062536;AC007283;AF111344;AF111345;AI696103;AJ487678;AJ487679;AK225475;AK304859;AK310746;AMYH01011403;AY690601;BC042844;BX089180;CH471063;DA456072;EF050529;NG_007265;NM_001206524;NM_001206542;NM_001230;NM_032974;NM_032976;NM_032977;U60519;U86214 AAB46730;AAC50644;AAD28402;AAD28403;AAH42844;AAU00989;AAY24291;ABJ53426;ADZ15622;BAB32553;BAB32554;BAG65597;CAD32371;CAD32372;EAW70247;EAW70248;EAW70249;EAW70250;EAW70251;NP_001193453;NP_001193471;NP_001221;NP_116756;NP_116758;NP_116759;Q92851 Hs.5353 1730123;1793552;1795470;2127874;2150571;2179208 CASP10_482;D2S188E;PMC230316P3;RH68751;RH70685;RH77986 ALPS2;FLICE2;MCH4 CASP-10;FADD-like ICE2;FAS-associated death domain protein interleukin-1B-converting enzyme 2;ICE-like apoptotic protease 4;OTTHUMP00000163712;OTTHUMP00000163713;OTTHUMP00000163714;OTTHUMP00000206550;OTTHUMP00000206551;apoptotic protease MCH-4;caspase 10, apoptosis-related cysteine protease;caspase-10;interleukin-1B-converting enzyme 2 APPROVED protein-coding ENSG00000003400 1500 03458 137215;601762;603909;605027;613659 REVIEWED 735988 CASP1 caspase 1, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] 11 11 q23 104401445 104411067 - 104896235 104905884 - 1580863;1300048;2293624;2315884;2298754;2315887;2315889;2315890;2315892;2315913;2315919;2315886;2315888;2315917;2315883;5130192;4889574;5130181;5130182;5130189;5130187;5490211;5490210;6480464;6484113;6907045 16557226;11221855;17375183;19853379;18367607;17845807;17384935;17303764;16886979;10557324;18398369;17188500;16333955;12396474;19265174;19362023;17278232;15196254;20974310;20303873;19302047 16903774;16817903;16785446;16778130;16621994;16428475;16405550;16260731;16123779;16087165;16037825;15809717;15561713;15498465;15489334;15471361;15383541;15326478;15296730;15039421;15030775;14669344;14584052;12692130;12628757;12477932;12459463;12387869;12215842;12191486;12170183;12096920;12019269;11997061;11967258;11953316;11821383;11536016;11472070;11438643;11437653;11432859;11390368;11226410;11085743;10708425;10660263;10510468;10438581;10329646;10069390;9990034;9987822;9894612;9875225;9830039;9804161;9792675;9727491;9705938;9705209;9632733;9593687;9535906;9435230;9334338;9334240;9250871;9219695;9190289;9115219;9070648;8999548;8978814;8861900;8125298;8044845;12459189;10799503;10353249;12888622;15107016;16575408;12761501;1373520;18029348;19439663;19414860;19382257;19269008;19258923;19141860;19117953;19074885;18981155;18828051;18799371;18590738;18577712;18550243;18523309;18329368;18304957;18263805;18263705;18209072;17959595;17703412;17623017;17597823;17477815;17418785;17360653;17196042;17173859;17036048;16920334;7876192;7797510;7721861;7642516;1919001;1574116;1321594;15749123;9548463;9002959;8962078;8035875;8034320;10477277;19158676;19573080;19648107;19737897;19773279;19779610;19833722;20038581;20048342;20170165;20184726;20197547;20402676;20503287;19913121;20485444;20628086;16780720;17207965;20808838;20060974;20855536;20959405;21037509;21048031;21052690;21792841;19158679;19825518;19593445;22837397;23021143;21862623;21463955;19013323;19275586;20852925;21757759;21832064;22227487;21311905;21320026;21862576;22046355;11684016;22046441;11374873;22195745;22833538;23226468;23386603;16286016;23209292;23236067;22537218;22491736 834 A8K249;A8K257;B4DVD8;G3V169;H0YEC7;P29466;Q5FBZ0 AA505065;AA737419;AA761907;AB102878;ABBA01039912;AK223503;AK290114;AK290122;AK296646;AK301037;AK310059;AK313516;AMYH01004002;AP001153;AY660536;BC041689;BC062327;CH471065;M87507;NG_029124;NM_001223;NM_001257118;NM_001257119;NM_033292;NM_033293;NM_033294;NM_033295;U13697;U13698;U13699;U13700;X65019 AAA66942;AAC50107;AAC50108;AAC50109;AAC50110;AAH41689;AAH62327;AAT72297;ADQ32141;BAD89407;BAD97223;BAF82803;BAF82811;BAG36296;BAG59246;BAG62650;CAA46153;EAW67057;EAW67058;EAW67059;EAW67060;EAW67061;NP_001214;NP_001244047;NP_001244048;NP_150634;NP_150635;NP_150636;NP_150637;P29466 Hs.2490 1683557;1708054;1739603;2145768;5120157 D11S4052E;GDB:197846;IL1BCE;RH93671;SHGC-81423 ICE;IL1BC;P45 CASP-1;CASP1 nirs variant 1;IL-1 beta-converting enzyme;IL-1BC;IL1B-convertase;OTTHUMP00000045728;OTTHUMP00000232029;OTTHUMP00000232030;OTTHUMP00000232031;OTTHUMP00000232032;OTTHUMP00000232033;OTTHUMP00000232034;OTTHUMP00000232036;caspase 1;caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase);caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase);caspase-1;interleukin 1, beta, convertase;interleukin 1-B converting enzyme;interleukin 1-beta convertase;interleukin-1 beta convertase;interleukin-1 beta-converting enzyme APPROVED protein-coding ENSG00000137752 1499 00977 147678 REVIEWED 5688796 CASP16 caspase 16, apoptosis-related cysteine peptidase (putative) 16 p13.3 3194244 3199964 + 12477932;14702039;15489334;15616553;18281271;9847080 197350 P0CB46 ABBA01026728;AC108134;AF098666;AK096989;AMYH01007089;BC111724;XM_003403459;XM_003403679;XM_003960598 P0CB46;XP_003403507;XP_003403727;XP_003960647 Hs.434132 5015961 D15S1477 CASP14L caspase 16, apoptosis-related cysteine peptidase (putative);putative caspase-14-like protein;putative caspase-16 protein-coding ENSG00000228146 27290 MODEL 1323414 CASP14 caspase 14, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008] 19 19 p13.1 15024015 15027900 + 15160291 15169104 + 1580863;6480464 17558860;16341674;10203698;19414860;19269008;18762957;18424262;17436577;17359582;16854378;16168224;16061862;16061209;15619438;15489334;15331408;12477932;12445205;12200134;12181750;11175259;11121154;11062009;9823333;9792675;1286667;21145461;22548721;17207965;20533828;19573080;19615732;19747408;19773279;19960512;20237496;20402676;20562859;22876114;21567094;21800051;23349634;23362869;23750785;21930782;21539619;21139048;22354994;22825846 23581 B2CIS9;P31944 ABBA01051094;AC004699;AF097874;AK313992;AMYH01009542;BC069541;BC103868;BC103869;BM840054;CH471106;EU262664;EU502748;NM_012114 AAD16173;AAH69541;AAI03869;AAI03870;ABX83060;ACA63845;ADQ32904;BAG36704;EAW84459;NP_036246;P31944 Hs.466057 2111312 DXS6776 MGC119078;MGC119079 CASP-14;apoptosis-related cysteine protease;caspase 14, apoptosis-related cysteine protease;caspase-14 APPROVED protein-coding ENSG00000105141 1502 05788 605848 REVIEWED 1604850 CASP2 caspase 2, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 7 7 q34-q35 142695524 142714907 + 142985308 143004789 + 4107076;4107080;6480464 17627033;12067235 22396545;11076957;11156409;9044836;19453261;19414860;19347032;19269008;19074885;18840686;18418048;18413747;18375382;18238895;18166155;17945178;17637755;17195089;17159900;17079734;16843824;16822901;16777994;16652156;16387548;16227610;16193064;16172118;15843892;15817479;15735701;15590671;15555560;15511269;15500642;15489334;15297885;15262979;15173176;15073321;14716300;14702039;14701762;14647455;14623896;14584591;12920126;12853948;12837286;12598307;12584573;12477932;12477715;12193789;12145703;12107826;12065594;11350957;11313953;10791974;10329646;9847074;9792675;9695946;9560245;9261102;9228018;8985253;8962078;12011445;11972030;11832478;11823470;11425872;11399776;8780721;8087842;8044845;7789948;14713958;15882978;11278287;11830582;12787561;19573080;19604093;19715609;19730412;19738422;19773279;19935698;20208132;20402676;20453000;20158568;20187765;16360037;10079193;16344560;17902043;20978129;20143425;20819778;20855536;21051981;10980123;21332795;19593445;21726810;23553630;23568547;21903589;21828056;18309324;21900206;22002103;22531785;21415862;21906983;21940110;22825847;22077397;21475302;22174370;22201672;19322201;16701639;21988832;22486813;22505724;23042294 835 C9JRR9;D3DXD9;Q9BUP7 AACC02000107;AB209640;ABBA01034134;AC073342;AF314174;AF314175;AK096245;AK291274;AK303265;AK303391;AMYH01018007;AY219042;BC002427;BG397039;BM998653;BQ447606;BT007240;BX537669;CB988674;CH236959;CH471198;CR541748;DA505883;DB455837;DB455840;NG_029248;NM_001224;NM_032982;NM_032983;U13021;U13022 AAA58959;AAA58960;AAH02427;AAK00299;AAK00300;AAO25653;AAP22346;AAP22347;AAP22348;AAP22349;AAP35904;ABM84746;BAD92877;BAF83963;BAG64347;BAG64447;CAG46548;EAW51860;EAW51862;EAW51863;EAW51864;EAW51867;EAW51869;EAW51870;NP_001215;NP_116764;NP_116765;P42575 Hs.368982 1647746;1662076;1697432;1767210;2113714;2150790;2174901;5014051;5037552 A004G42;CASP2;D8S2278;D8S2279;NEDD2;RH102216;RH12751;WI-19013;WI-9353 CASP-2;ICH-1L;ICH-1L/1S;ICH-1S;ICH1;NEDD-2;NEDD2;PPP1R57 ICH-1 protease;NEDD-2;NEDD2 apoptosis regulatory;OTTHUMP00000025259;OTTHUMP00000202227;caspase-2;neural precursor cell expressed developmentally down-regulated protein 2;neural precursor cell expressed, developmentally down-regulated 2;protease ICH-1;protein phosphatase 1, regulatory subunit 57 APPROVED protein-coding ENSG00000106144 1503 02800 600639 REVIEWED 1351672 CASP5 caspase 5, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] 11 11 q22.2-q22.3 104370180 104384909 - 104864967 104893895 - 1580863;5490211;6480464;6907045 20303873 17418785;7797592;19414860;19270026;19203830;19074885;18430458;17676485;16893518;16886895;15886296;12964016;12853457;12479849;12477932;12191486;11535131;11356849;10986288;10872455;9894612;9298992;9250871;8617266;19269008;19604093;19773279;20237496;20379614;20402676;20434535;19573080;20855536;20635389;21051981;21191419;19593445;21454616;21700414;22906436;21969293;21668377 838 A8MZ63;C9JF14;H7C0P5;Q1HBJ3 ABBA01039912;AK296660;AMYH01004002;AP001153;BC074994;BC113406;CH471065;DQ228672;DQ228673;DQ228674;DQ228675;DQ228676;DQ228677;DQ508420;DR005081;NM_001136109;NM_001136110;NM_001136112;NM_004347;NR_024239;NR_036562;U28015;W60703;X94993 AAA75172;AAH74994;AAI13407;ABB58698;ABB58699;ABB58700;ABB58701;ABB58702;ABB58703;ABF47103;BAG59257;CAA64450;EAW67054;EAW67055;EAW67056;NP_001129581;NP_001129582;NP_001129584;NP_004338;P51878 Hs.213327 2111804;5121203 D11S4491;RH71301 ICE(rel)III;ICEREL-III;ICH-3;MGC141966 CASP-5;ICE(rel)-III;OTTHUMP00000045729;OTTHUMP00000209889;OTTHUMP00000231914;OTTHUMP00000231915;TY protease;caspase 5, apoptosis-related cysteine protease;caspase-5;protease ICH-3;protease TY APPROVED protein-coding ENSG00000137757 1506 04048 602665 REVIEWED 731002 CASP3 caspase 3, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 4 4 q34 185785844 185807623 - 185548850 185570629 - 1300048;734693;734692;71121;2313963;2293092;2313998;2314002;2298948;2293304;2293322;2311448;2293309;2293311;2314187;2293308;2311466;2311451;2311440;2311467;2311446;2293314;2298949;2293330;2311432;2311441;2311436;2293093;2293315;2293306;2293307;2293316;2314390;2311430;2311442;2311444;2311447;2311455;2293324;4143170;4143196;4143171;5490154;6480464;6484113;6907045;7248688;7248687 11092762;10319819;11773055;18817839;18227733;18931364;18090083;18177927;18253123;18378144;19013511;12107344;18490106;17082813;17513560;16847061;15855338;19601660;16574987;19100955;18470603;17267327;18192848;19145435;19555701;18521931;18172282;18466900;18064531;18063461;18463494;17869439;16443785;19356238;19187597;19094082;18603371;18288275;17403612;19239902;19961901;18836575;22419868;22614867 20856198;22147199;21959934;18723680;18712678;18708163;18676680;18658137;18623086;18586680;18577580;18561948;18521960;18473402;18450750;18441516;18439040;18427836;18415689;18415681;18384375;18381704;18379198;18298948;18297401;18296636;18266005;18256791;18256758;18211414;18209072;18171980;18164959;18155731;18155705;18088367;18086147;18083346;18060501;18058802;18055116;18054197;18047842;18000616;17989718;17983802;17981569;17978580;17950632;17936584;17908973;17880920;17805550;17724022;17721932;17698513;17689858;17645689;17616526;17606900;17606719;17597071;17559062;17544405;17534194;17525639;17505517;17495975;17462862;17437405;17436592;17430778;17413988;17412564;17379327;17364171;17324936;17321792;17301822;17272816;17245643;17235653;17219053;17217622;17198755;17172814;17167422;17143787;17141888;17130234;17124493;17123522;17121821;17118559;17114647;17071630;17065568;17038954;10942389;9353287;9736630;11350920;12888622;10521396;8976194;9624143;10490026;10748026;10823823;11106668;11313965;11500511;17823127;11689006;16983089;18029348;9108473;11076937;16286477;19610261;19573080;19531679;19519609;19513559;19453261;19414860;19404232;19355923;19299722;19289465;19283487;19281794;19272183;19270727;19269008;19266703;19244543;19241192;19223905;19219602;19204086;19200347;19178812;19159073;19157506;19157504;19141860;19132366;19074885;19058789;19052714;19046417;19043361;18986328;18838202;18829519;18821563;18820371;18818379;18814044;18768468;18763039;18759060;18754867;17023557;17013758;17013756;16977583;16955788;16949642;16948902;16935258;16931214;16894574;16884727;16882668;16835231;16808908;16802364;16791842;16787777;16781734;16716256;16689860;16651613;16567804;16530191;16530181;16529748;16526059;16516911;16505307;16498457;16455648;16382148;16344560;22541080;22872644;16337360;16320828;16300929;16242324;16227597;16213496;16203739;16179347;16121124;16080782;16009347;15996160;15935070;15869582;15848173;15843892;15803189;15748808;15748158;15716280;15705385;15670787;15657356;15657349;15638357;15637055;15617521;15599395;15569692;15569672;15569669;15564512;15542841;15505416;15489334;15473998;15375594;15345747;15280469;15254227;15246206;15241180;15220451;15205454;15200957;15187159;15178331;15156398;15153940;15098015;15087450;15041704;15033815;15033720;15015772;15014070;14991812;14982947;14976035;14971566;14970175;14960581;14764700;14710359;22191568;11274152;11261798;11257232;11248093;11230124;11222676;11175261;11162351;11162250;11149901;11098060;11084335;11058115;11053413;11042212;11024045;11016947;10998058;10926122;10896157;10821855;10799874;10791974;10777594;10770929;10734073;10713703;10712510;10708425;10675528;10672017;10671544;10629060;10611247;10608812;10602513;10602493;10579725;10564664;10556977;10510468;10479680;10469173;10454555;10438581;10435619;10432301;10409750;10364179;10205159;10205158;10200531;10103059;10082566;10069390;10066732;10022118;9990034;9933635;9894612;9878167;9875225;9857079;9850056;9811849;9799125;9786869;9751706;9708895;9705209;9694885;9685336;9671712;9660939;9632733;9618490;9593687;9545236;9535906;9525868;9452471;9422780;9395403;9384571;9368003;9367996;9361003;9351817;9348292;9337844;9334338;9334240;9323209;9298992;9267021;9252332;9235961;9233763;9230442;9219695;9208847;9206994;9115219;9045680;9021152;8943232;8900201;8812467;8804412;8780721;8755496;8696339;8673606;8626669;8605870;8044845;7983002;7774019;7596430;1067155;16330530;16897667;16520893;17140287;16480911;11462036;16111829;14993250;14555204;12190962;12019321;11141237;14684629;14678329;14674699;14657946;14623896;14612448;14572611;14570914;12897143;12874324;12867600;12854132;12837287;12833566;12824190;12809603;12804035;12792782;12788938;12788227;12760639;12750404;12750393;12707329;12700660;12700630;12686427;12677451;12657644;12643601;12621124;12611892;12606589;12605885;12598529;12581734;12579342;12576443;12576296;12566444;12515825;12511568;12490308;12483536;12477932;12444137;12438416;12425945;12401855;12397210;12393901;12390838;12297281;12235123;12228224;12210761;12207967;12186978;12181742;12181128;12169388;12151338;12150947;12149654;12145703;12124386;12118383;12112012;12107159;12095993;12080079;12070657;12070005;12055227;12044963;12036886;12032677;12004072;11992386;11989976;11988074;11981455;11972398;11960384;11948397;11927604;11904443;11901153;11875078;11866986;11859414;11854437;11840332;11825902;11815631;11802788;11795487;11788610;11787859;11752060;11748221;11741893;11696595;11675509;11602184;11555640;11551979;11550094;11526478;11517310;11514563;11509621;11479289;11478781;11470874;11447297;11438643;11437602;11425872;11423904;11420704;11399776;11387340;11356849;11345898;11331419;11283607;11278797;11278782;11278572;11278424;11278283;10430052;9548463;16511342;16338743;16120388;15725353;15578977;12404116;15179054;15767427;11123279;11177389;15204919;11752215;11170436;11359776;11002417;8962078;11832478;9326610;15806167;15735701;15706351;10862606;15650747;15258591;15186778;10704341;22482362;22764223;20683843;20580881;20667824;20862799;21667042;20492341;20566630;20683021;22607239;18330265;10899937;11278287;11830582;12787561;16204230;16501604;16979168;17080552;18844072;18946722;19170196;19351510;19544333;19549685;19550122;19553679;19557639;19559790;19567200;19585117;19598027;19604093;19625176;19626422;19636556;19655253;19655415;19665028;19692168;19698994;19715609;19723039;19724860;19724907;19738422;19759058;19773279;19774677;19784808;19788069;19788411;19807657;19826114;19838207;19854241;19937139;19942343;19956888;19996122;19996272;19996275;19996278;20001963;20025478;20041182;20045442;20068062;20072652;20085765;20101263;20103643;20104682;20142237;20198319;20227371;20299368;20307198;20383567;20402676;20423928;20453000;9278461;9334214;16463650;20042134;20512574;20632819;20947770;21029675;21178828;20150439;16083554;19730442;19770576;19770581;20038816;20424172;20962079;20063052;20839416;21123558;20619728;20702410;19913121;20180022;20450729;20530714;20628086;20644561;20661084;20855536;20959405;21048031;20665667;20929126;20087649;21479362;20919853;17261582;20966960;21160486;21248767;21506333;21270757;21099290;21099299;21944661;21216952;21237154;18476631;18652315;20738749;20814064;20950443;21123175;22885173;22939953;22952982;21382445;21307660;20598358;21504623;19379562;19035131;19570417;19840460;21203962;21223758;21441410;21561870;21706480;19236754;21151026;21775054;17498346;21700414;21484410;21317880;23650375;20722551;22949938;20060927;20723300;21644232;21671484;19258326;21827945;21880013;21098975;21555338;21756903;19240112;21729540;22504224;22013052;18585351;20346214;23703388;23724505;21548803;21724551;21785112;21869592;21875325;22298410;18727869;21139048;21802116;21890473;21914347;22238643;21668377;21081164;21142842;21148072;21624464;21682651;21819468;22136337;22184067;22309278;22320973;19322201;20981869;22072751;22242595;21725926;22429842;11242052;11257230;16543147;16869888;17069460;17291493;17340613;19698783;23568731;23591201;12624662;15507451;17337451;21319273;22302483;17008916;23103707;23421973;23545262;9840926;22912727;22944165;22429811;23152053;23156805;23170789;23386603;12821118;21963094;21988832;22796265;22815893;23000965;22121772;22568453;22931643;23170075;8689682;22678593;22951837;23221544;23271051;17488272;17653867;17928446;17967742;18074388;18092356;18300076;18551626;18669646;19013323;19275584;19275586;19275587;19319745;19458171;19655254;19692467;19812265;19878567;19895210;19925402;20012528;20340172;20404718;20628645;20801175;21255440;21483469;21483669;21859712;21926353;22094081;22216281;22496955;22552851;22629415;22683311;22837201;22844442;22832123 836 A8MVM1;C9JXR7;P42574 ABBA01070517;AC073932;AC079257;AJ413269;AK291337;AMYH01014768;AU127028;AU133051;AY219866;BC016926;BU753483;BX647609;CH471056;CQ786438;GM887507;HI179110;HI179112;NM_004346;NM_032991;U13737;U13738;U26943 AAA65015;AAA74929;AAB60355;AAH16926;AAO25654;ABM82469;ABM85657;BAF84026;CAC88866;CAG17895;CAI46084;CAV28500;CBX53863;CBX53864;EAX04673;EAX04674;EAX04675;EAX04676;NP_004337;NP_116786;P42574 Hs.141125 1688472;1715807;1725607;1775825;2121640;2172288;2175439;5492153 Casp3;D4S3281;G10724;G62021;RH119600;RH46486;SHGC-59603;SHGC-67239 CPP32;CPP32B;SCA-1 CASP-3;CPP-32;OTTHUMP00000165052;OTTHUMP00000165053;OTTHUMP00000165054;OTTHUMP00000165055;OTTHUMP00000224230;OTTHUMP00000224231;PARP cleavage protease;SREBP cleavage activity 1;Yama;apopain;caspase 3, apoptosis-related cysteine protease;caspase-3;cysteine protease CPP32;procaspase3;protein Yama APPROVED protein-coding ENSG00000164305 1504 02799 600636 REVIEWED 1343162 CASP4 caspase 4, apoptosis-related cysteine peptidase This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 11 11 q22.2-q22.3 104318804 104344535 - 104813594 104839325 - 1580863;6480464 17353931;7743998;7797510;19414860;19269008;18056395;18029041;17942194;16920334;15975932;15500642;15489334;15326478;15146197;15123740;14702039;12477932;12096920;10872455;10477277;10329646;10069390;9875225;9792675;9694885;9539746;9250871;9233763;8962078;8125298;7797592;1919001;11927604;22733992;19573080;19773279;20237496;20402676;20453000;20855536;20514521;19705160;21832049;21781452;20816908;21282934;21317160;21479362;21984918;22246630 837 E9PMT1;H0YD34;P49662 A48861;ABBA01039912;AI128358;AK057094;AK225751;AK296081;AK304222;AL050391;AMYH01004002;AP001153;AP002004;BC008060;BC017839;CH471065;CN261701;EF636667;NM_001225;NM_033306;U25804;U28014;U28976;U28977;U28978;U28979;Z48810 AAA75171;AAA86890;AAC99850;AAC99851;AAC99852;AAC99853;AAC99854;AAH17839;ABM82909;ABM86099;ABR09278;BAG51861;BAG58837;BAG65094;CAA03154;CAA88750;CAB43686;EAW67050;EAW67051;EAW67052;EAW67053;NP_001216;NP_150649;P49662 Hs.138378 1339264;1669308;1737281;2143843 D11S1886;D11S3145;D11S4641;RH16178 ICE(rel)II;ICEREL-II;ICH-2;Mih1/TX;TX CASP-4;ICE(rel)-II;OTTHUMP00000231863;OTTHUMP00000231864;apoptotic cysteine protease Mih1/TX;caspase 4, apoptosis-related cysteine protease;caspase-4;protease ICH-2;protease TX APPROVED protein-coding ENSG00000196954 1505 04047 602664 REVIEWED 732006 CASP6 caspase 6, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. [provided by RefSeq, Jul 2008] 4 4 q25 110829234 110844078 - 110609785 110624629 - 1300048;2301331;1582381;2301336;2301314;2301320;2301337;2301338;2301316;2301332;2301339;6480464;6907045 11311984;11406539;17283169;15749343;15010362;15507514;15210759;15662549;11086028;10574243 12888622;7796396;19414860;19269008;19219602;19052714;19022247;18820706;18762957;18497562;18155731;17392160;16977583;16948818;16518869;16341674;16135563;16123779;21621544;15735701;15654952;15511269;15500642;15489334;15356202;15321985;15280469;15273717;12477932;12232792;12145703;12089322;12052891;11953316;11901153;11802788;11514563;11463840;11438643;11423904;11387340;11356849;11331782;11262188;11246070;11098060;10770929;10734073;10655504;10481058;10469173;10438520;10432301;10409650;10205159;10069390;9990034;9933635;9857079;9593687;9463409;9337844;9298992;9228018;9219695;8978814;8962078;8900201;8812467;8780721;8710882;7983002;15103018;11832478;16169070;15200957;14713958;17167422;17337451;11016947;11859414;18029348;18946722;19573080;19694615;19773279;19897582;19915487;20332099;20402676;20427671;20437871;21111746;21098228;20661084;20606168;20682790;20855536;20890311;20702410;10103059;22891250;18408014;22433863;21317160;21936563;21139048;21900206;21906983;22683611;20097875;20801175;21918813;22094081;22505724 839 D6RBM3;D6RHU3;P55212 ABBA01063783;AC004067;AMYH01014458;AY254046;BC000305;BC004460;BM837197;CH471057;NG_029187;NM_001226;NM_032992;U20536;U20537 AAC50168;AAC50169;AAH00305;AAH04460;AAO63494;ABM85515;ABW03757;EAX06244;EAX06245;NP_001217;NP_116787;P55212 Hs.654616 1645970;1698608;1769507;1791093;1791095;1791097;1795472;2116221;2170477;5015961;5022322 CASP6_488;D11S2560;D15S1477;D4S262;RH102859;SHGC-19815;SHGC-19828;SHGC-51589;csnpcasp6-pcr2-1;csnpcasp6-pcr5-1;csnpcasp6-pcr6-1 MCH2 CASP-6;OTTHUMP00000162742;OTTHUMP00000162743;apoptotic protease MCH-2;caspase 6;caspase 6, apoptosis-related cysteine protease;caspase-6 APPROVED protein-coding ENSG00000138794 1507 03321 601532 REVIEWED 1298347 CASP7 caspase 7, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 10 10 q25 115428925 115480654 + 115438921 115490668 + 734511;1580863;2314187;4143196;4143171;5684540;5684535;5684536;6480464;5684537;5684539;6907045 14679087;17082813;19239902;19961901;18785314;20702827;17596683;17646170;19168786 22561518;12665508;12888622;8567622;8576161;9325343;9922454;11257231;19269008;19241192;19219602;19141860;19058873;19052714;19022247;18708163;18596415;18521960;18459962;18086147;18072206;17978580;17880920;17697120;17532763;17504820;17094969;17023557;16918502;16498457;16344560;16213496;16123041;15735701;15650747;15511269;15500642;15489334;15033720;14623896;14584591;14583630;12970753;12951057;12824163;12804035;12586738;12477932;12181742;12145703;12107159;11943137;11904443;11859414;11829465;11815631;11802788;11755217;19414860;19323650;11752425;11555640;11535131;11514563;11448953;11425872;11423904;11399776;11387340;11359776;11356849;11278572;11257230;11170436;11084335;11058599;11024045;10998058;10791974;10731697;10675528;10564664;10469173;10318789;10200531;10082581;10069390;9990034;9894612;9850056;9671712;9607320;9593687;9535906;9525868;9384571;9337844;9323209;9230442;9228018;9219695;9070923;8962078;8812467;8780721;8755496;8631895;8521391;8125298;7983002;1056466;11257232;11832478;15580265;10862606;15200957;14713958;9298992;15507451;17337451;22548721;17167422;19770576;20566630;20468060;11016947;11420704;11875078;16385451;19531679;19573080;19581639;19604093;19605487;19617626;19655253;19738422;19759058;19773279;19782763;19826114;19996278;20159985;20379614;20402676;20453000;20800603;20819778;20855536;20959405;19913121;20567846;20628086;20661084;21157428;20950443;23190606;23383273;14512414;16339151;19698783;21555521;10103059;22863883;23000965;23650375;9875225;21484410;19258326;21936563;22441531;22184066;21142842;8889548;22451931;21044950;22584050;15254227;19655254;19692467;20404718 840 B4DWA2;Q5SVL1;Q5SVL2;Q96BA0 AB451281;AB451413;ABBA01062991;ABBA01062992;AK223489;AK298964;AK300578;AK301437;AL592546;AL627395;AMYH01003081;AU130224;BC015799;BM976488;BP429646;BQ006259;BQ007179;BT006683;BX487250;BX647973;CH471066;DC332144;DC364916;DC384804;GM887522;NM_001227;NM_001267056;NM_001267057;NM_001267058;NM_033338;NM_033339;NM_033340;U37448;U37449;U39613;U40281;U67206;U67320 AAC50303;AAC50304;AAC50346;AAC50352;AAC51153;AAF21460;AAH15799;AAP35329;ABM84695;ABM92231;ACE86696;ACE87380;BAG61059;BAG62277;BAG62964;BAG70095;BAG70227;CAV28504;EAW49494;EAW49495;EAW49496;EAW49497;EAW49498;NP_001218;NP_001253985;NP_001253986;NP_001253987;NP_203124;NP_203125;NP_203126;P55210 Hs.9216 1736030;1768691;2109111;2171199 CASP7_81;D10S1306E;RH18047;SHGC-33054 CASP-7;CMH-1;ICE-LAP3;LICE2;MCH3 CASP-7;ICE-like apoptotic protease 3;Lice2 alpha/beta/gamma;OTTHUMP00000020510;OTTHUMP00000020511;OTTHUMP00000020512;OTTHUMP00000020513;OTTHUMP00000020514;apoptotic protease MCH-3;caspase 7 isoform delta;caspase 7, apoptosis-related cysteine protease;caspase-7 APPROVED protein-coding ENSG00000165806 1508 03457 601761 REVIEWED 730846 CASP8 caspase 8, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008] 2 2 q33-q34 201806411 201860679 + 202098166 202152434 + 734696;734695;1580863;1300048;2311427;2311428;2311429;2311245;2311439;2311319;2311430;2311431;2314002;2314187;2311435;2311436;2315744;1624191;2317230;4143170;4143196;4143171;6480464;6484113;6907045;7240710;7248688 12353035;10197541;19540304;19194987;17563067;17880769;15036620;15976052;16443785;12753807;18090083;17082813;18570579;18521931;18483392;15590916;19843670;17403612;19239902;19961901;22419868 21979465;22408249;21436691;8681376;11717445;14644197;11048727;11101870;12761501;10521396;18029348;10891503;9721089;10894160;12804595;12887920;19492233;19470771;19453261;19427028;19414860;19412632;19318553;19289465;19276244;19269008;19260109;19239323;19219602;19214744;19214542;19203830;19166881;19160091;19152111;19141860;19124506;19122169;19115040;19112091;19111387;19493480;19094228;19074885;19048627;19048023;19001123;18974049;18840411;18823701;18823309;18796435;18728974;18725521;18716417;18691973;18684943;18676836;18676680;18675369;18632964;18617900;18603835;18596409;18563783;18516683;18485876;18473402;18458084;18431743;18398042;18381704;18362937;18343995;18324486;18305469;18216014;18161513;18158779;18097748;18089800;18089778;18086677;18076022;18054197;18045865;17940865;17932347;17911615;17891485;17726263;17684142;17666167;17627287;17626072;17623017;17616526;17599062;17585337;17572490;17545522;17534194;17532763;17525260;17450141;17436592;17378240;17337451;17314102;17293864;17290218;17272309;17224200;17182797;17170703;17071630;17064406;17047155;17030903;17018785;16951203;16938569;16886176;16762833;16733806;16722146;16636047;16633737;16619028;16607283;16556893;16541419;16538383;16528386;16478725;16446372;16436380;16397500;16374545;16344560;16251207;16242324;16227629;16225956;16193064;16186808;16179941;16179347;16135563;16036110;15956881;15906362;15849201;15815621;15782135;15760909;15746428;15735742;15735701;15701651;15650242;15645452;15640164;15637055;15611097;15601643;15592525;15592455;15531912;15509781;15507484;15492869;15489334;15476874;15473998;15390286;15389560;15369772;15289853;15280356;15262979;15254227;15210716;15205454;15159409;15111130;15069192;15067048;15034549;15024054;15015772;12052891;12041673;12037669;12021264;12010809;11992615;11965497;11933563;11917123;11877293;11865194;11788820;11772515;11752160;11751897;11751056;11741396;11735112;11734564;11733517;11683038;11583996;11555640;11514563;11479289;11437602;11431480;11423904;11420686;11406564;11395500;11387340;11340079;11264300;11181075;11161814;11102441;11101867;11098060;11085743;11002417;11000244;10964557;10926122;10911620;10860845;10734073;10716992;10708425;10616217;10508784;10493725;10469173;10442631;10438581;10435619;10235259;10069390;9990034;9971775;9931493;9878167;10432301;9875225;9804161;9792675;9763668;9727492;9727491;9632733;9624166;9575181;9560245;9539746;9380701;9337844;9334338;9325248;9289491;9271594;9228018;9219695;9208847;9184224;9006941;8962078;8755496;8681377;8521391;7983002;3031469;170210;12404116;15578977;15142380;11177389;19060883;18570872;15659383;12911633;9774341;11832478;16169070;11741985;9326610;15383280;10329646;14993214;14991747;14982947;14982875;14970175;14759258;14701762;14688019;14644092;14625033;14584591;14560027;14522966;13679856;12960156;12912912;12888622;12841868;12754217;12750404;12750393;12748179;12738800;12721308;12707329;12702723;12700660;12700635;12692130;12668660;12646168;12620239;12598529;12527898;12507932;12496482;12496481;12477932;12438416;12393901;12232792;12218097;12215447;12198154;12196516;12191471;12189238;12170765;12131184;12122017;12107169;12107159;12097160;12096338;12095993;12065591;12220669;9535906;14713958;22644571;12884866;22211869;21444671;19778795;20572163;21178828;11016947;11260720;16183855;16497673;16936772;17159907;18245485;18328427;18455983;19170196;19345995;19372376;19521670;19528225;19531679;19542541;19543235;19550122;19573080;19597472;19617217;19625176;19629679;19644511;19665028;19684859;19692168;19698994;19710364;19738422;19773279;19795398;19801665;19807657;19826114;19852930;19854135;19902255;19923319;19954364;19996275;20005201;20033885;20044137;20080300;20086182;20145138;20150972;20176653;20198319;20237344;20308068;20353946;20363033;20402676;20443055;20453000;20471133;20502973;9027312;21183680;20564345;20799830;20978129;22820578;22843554;23244104;20132554;20811726;20951133;20013803;20356928;20403046;20565257;19913121;20143425;20398055;20554749;20605201;20628086;20644561;20652397;20661084;20677014;20804486;19432816;19770581;20379197;20937773;21166494;20033750;20808443;20613771;20702410;21135236;20606168;20800603;20802294;20819778;20855536;20877624;20959405;20978178;21048031;20087649;20616437;20870287;21157428;22513478;22806078;22815944;23289213;21487429;21107701;21282461;20829884;21072056;21248767;21419663;21380726;21104989;21153367;12753742;20724831;11940602;21454681;19593445;22588838;22672670;22691345;23096115;23071110;21328377;20817393;23081800;21524651;21628531;15717329;21667042;21751259;21801448;21525013;21633787;19773432;20825417;23418437;22949938;18387192;22864571;23230268;23255602;21669575;22383778;21714991;20085538;21569377;21576355;21697465;21426305;21538054;19343040;21554547;21620750;21737329;21900206;21816816;19240112;22037414;22267217;21865223;21822306;21868312;21988832;22274400;23185580;20448643;20671745;20972266;21139048;21906983;22179575;22659694;21548803;21724551;21785112;21704196;21785459;22056502;22339913;22027693;20301425;21461653;21819468;21983787;22010212;22160860;22253841;11684016;12765336;16920630;18776134;19373245;22528489;22266862;22322857;22508042;19258216;22357491;15388581;21396853;15507451;22297296;22683265;22683266;22120515;22860893;22922291;22801217;22421964;17442709;17488272;17653867;18625728;19013323;19125371;19176810;19275584;19275586;19692467;19812265;20012528;20404718;21183955;21458669;21483669;21803845;22094081;22585859;22632162;22971934;23142077 841 C9JB29;E7EQ01;E7EQ06;E7ETB7;E7EVN1;F8WF39;H7BZM4;H7C0E2;Q96T22 AA312258;AB038985;AB451282;AB451414;ABBA01062536;ABBA01062537;ABBA01062538;ABBA01062539;AC007256;AC007283;AF009620;AF102139;AF102140;AF102141;AF102142;AF102143;AF102144;AF102145;AF102146;AF207672;AF380342;AF422926;AF422927;AF422928;AF422929;AI351872;AK310630;AL600571;AL601594;AL702116;AMYH01011403;BC010390;BC017031;BC028223;BC068050;BG498355;BX395849;CB990598;CH471063;DA420056;DB157537;DQ355026;EU168332;EU670044;HA637638;HI179126;HI179128;HI179130;HI179132;NG_007497;NM_001080124;NM_001080125;NM_001228;NM_033355;NM_033356;NM_033358;U58143;U60520;X98172;X98173;X98174;X98175;X98176;X98177;X98178 AAB70913;AAC50602;AAC50645;AAD24962;AAG10682;AAH68050;AAK57437;AAL87629;AAL87630;AAL87631;AAL87632;AAY24225;ABC67468;ABX09989;ACF93415;BAB32555;BAG70096;BAG70228;CAA66853;CAA66854;CAA66855;CAA66856;CAA66857;CAA66858;CAA66859;CAZ39541;CBX53871;CBX53872;CBX53873;CBX53874;EAW70253;EAW70254;EAW70258;EAW70262;NP_001073593;NP_001073594;NP_001219;NP_203519;NP_203520;NP_203522;Q14790 Hs.599762 1646319;1650227;1651195;1662030;1674567;1777685;1793550;1852911;2154216;5014051;5022651;5117897 A008P44;D11S2921;D2S1853;D8S2278;G29514;GDB:631813;PMC230316P2;RH15884;RH36454;RH70497;RH70951;RH78960 ALPS2B;CAP4;Casp-8;FLICE;FLJ17672;MACH;MCH5;MGC78473 FADD-homologous ICE/CED-3-like protease;FADD-like ICE;ICE-like apoptotic protease 5;MACH-alpha-1/2/3 protein;MACH-beta-1/2/3/4 protein;MORT1-associated ced-3 homolog;OTTHUMP00000163717;OTTHUMP00000163720;OTTHUMP00000165062;OTTHUMP00000165063;OTTHUMP00000165064;OTTHUMP00000206552;OTTHUMP00000206557;OTTHUMP00000206581;apoptotic cysteine protease;apoptotic protease Mch-5;caspase 8, apoptosis-related cysteine protease;caspase-8 APPROVED protein-coding ENSG00000064012 1509 03459 114480;114550;211980;601763;607271 REVIEWED 1344349 CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013] 1 1 1 q21 133229049 133240436 + 158426989 158438300 + 160160285 160171676 + 1580863;2314136;2314137;2314133;2314134;2314135;6480464;7204686 15561962;11976916;18269685;17681849;15561963;20356453 7945294;18452871;17009399;16344560;15489334;12477932;8406504;2321095;20682687;22060633;22337878;7599203;7666833;8660374;9125222;23460944 844 C9JAC8;P31415 AA197256;ABBA01016614;AI141895;AK300713;AK313250;AL121987;AL139011;AMYH01001451;BC022289;BF574316;BX500008;CH471121;DA766051;NM_001231;S73775 AAB32063;AAH22289;ABM82911;ABM86101;BAG36060;BAG62390;EAW52736;NP_001222;P31415 Hs.632476 1690448;1778365;1852760 RH17912;RH64698;RH79623 CASQ;PDIB1 OTTHUMP00000029889;calmitin;calmitine;calsequestrin, skeletal muscle isoform;calsequestrin-1 APPROVED protein-coding ENSG00000143318 1512 15915 114250 REVIEWED 1314005 CASP8AP2 caspase 8 associated protein 2 This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008] 6 6 q15 90596379 90640876 + 90539619 90584155 + 6480464 10235259;12477726;15698540;19414860;18677100;18408764;18038312;17696945;17245429;17003126;17003125;16627760;15592525;15489334;15342556;14702039;12477932;12168954;11340079;10718198;10537104;15069192;15561718;20936779;19406988;19546234;19573080;19615980;19773279;19854135;20109966;20237496;21338522;21245389;19593445;23086935;22216762;19471022;15840729;17370265;21139048;21693764;21696825;21725362;21906983;20697732;22427918;22595458;21988832;23071092;20801175 9994 Q9P2N1 AB037736;ABBA01040539;ABBA01040540;ABBA01040541;ABBA01040542;ABBA01040543;AF154415;AF164678;AF165161;AJ420582;AK002070;AL353692;AMYH01016504;AMYH01016505;BC012574;BC027850;BC029386;BC042577;BC056685;BC132828;BC132830;BC150274;BP192859;BP363682;CH471051;NM_001137667;NM_001137668;NM_012115 AAD45157;AAD45537;AAF03367;AAH42577;AAH56685;AAI32829;AAI32831;AAI50275;BAA92067;BAA92553;EAW48540;EAW48541;EAW48542;EAW48543;EAW48544;NP_001131139;NP_001131140;NP_036247;Q9UKL3 Hs.558218 1647315;2107911;2137787;2154316 CASP8AP2_7960;RH47433;SHGC-52865;STS-H50583 CED-4;FLASH;FLJ11208;KIAA1315;RIP25 CASP8 associated protein 2;CASP8-associated protein 2;FLASH homolog RIP25;FLICE associated huge;FLICE-associated huge protein;OTTHUMP00000016860;human FLASH APPROVED protein-coding 1510 06048 606880 REVIEWED 737298 CASQ2 calsequestrin 2 (cardiac muscle) The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008] 1 1 p13.1 116044147 116112929 - 116242624 116311426 - 734697;1580863;6480464;6771208;6771209;6771235;7240710;7204686 11704930;21565973;21441944;1531837;20356453 9795116;19398665;19376574;19357236;18669926;18543230;18469084;18399795;17938175;17881003;17655857;17607358;17531962;17045261;16908766;16601229;15489334;15485681;15050380;14638677;14571276;12858557;12732448;12477932;12386154;11113462;11069905;10825439;10748065;9287354;8889548;8406504;8125298;7721813;1985907;15698842;19709828;22421959;20302875;21076409;20039900;21063088;21265816;19403607;21416293;21685173;22050625;21872879;22123818;22481011;17569730;20301466 845 B4DIB0;O14958 ABBA01068477;ABBA01068478;AK129831;AK129891;AK225959;AK293595;AK295502;AK313041;AL449264;AL450389;AMYH01000969;BC022288;BM679349;CH471122;D55655;DC423064;NG_008802;NM_001232 AAH22288;ABM84145;ABM87547;BAA23494;BAG35873;BAG57061;BAG58422;EAW56635;EAW56636;NP_001223;O14958 Hs.57975 1781786;2137533 AL009800;SHGC-155959 FLJ26321;FLJ93514;PDIB2 OTTHUMP00000013749;calsequestrin 2;calsequestrin 2, fast-twitch, cardiac muscle;calsequestrin, cardiac muscle isoform;calsequestrin-2 APPROVED protein-coding ENSG00000118729 1513 00256 114251;611938 REVIEWED 1343051 CATHL1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) 7589491 848 1517 1347815 CATHL2 cathelicidin 2 (bactenin 5) 7589491 850 1519 69147 CASP9 caspase 9, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 p36.21 15691378 15723377 - 15818769 15851285 - 1580863;1300048;2313963;2313998;2314002;2314187;2311432;2311244;2311320;2311322;2311466;2315928;2315929;2311430;2311245;2311436;2311319;2311246;2311321;2315933;2314390;2315930;2290492;6480464;6484113;6907045 18817839;18931364;18090083;17082813;19145435;18369072;15805231;14617576;16847061;20012353;19412632;16443785;17880769;18521931;15976052;16038259;15246841;17297389;17869439;19252927;17011986 9390557;11069302;9812896;9922454;19465923;19414860;19359048;19269008;19238172;19219602;19183163;19159073;19141860;19081073;19074885;19058789;19052714;19016842;18840411;18814044;18813792;18723680;18676680;18632964;18415681;18381704;18297401;18202770;18083711;18054197;17899380;17893147;17626072;17534194;17466630;17437405;17379327;17299206;17291493;17285546;17079734;17071630;17030903;16895904;16780893;16716256;16710414;16689829;16687442;16505493;16505307;16337360;16300929;16287866;16260615;16242324;16181301;15935070;15811855;15735701;15703181;15674327;15657349;15657060;15629764;15500642;15489334;15485396;15485395;15473998;15300255;15280366;15273730;15220451;15214043;14993223;14991812;14982875;14747474;14701803;14684629;14634335;14566819;12954616;12914932;12804035;12792650;12782307;12749848;12732844;12637514;12620239;12620238;12586738;12566444;12477932;12393884;12393263;12372609;12147322;12145703;12096338;12095993;12055227;12021264;11948397;11927604;11919192;11905052;11870543;11803376;11801603;11801602;11734640;11514563;11423904;11408476;11390657;11387340;11350957;11248093;18086147;19493480;11242052;11230124;11084335;11076957;11024045;10708425;10671558;10469173;10438581;10384055;10376594;10329646;10187815;10070954;9990849;9890966;9878060;9837928;9671712;9651578;9545235;9539746;9488720;9337844;9323209;8962078;8900201;8663294;7983002;1067155;16520893;17140287;11462036;16511342;16480911;15725353;15578977;12404116;15767427;11832478;11113115;16189514;15262985;15200957;15829969;16120388;22616010;22679284;19770581;21178828;20490276;16497673;16936772;16979168;19170196;19550122;19573080;19625176;19626422;19655415;19692168;19724860;19741144;19758996;19773279;19789190;19807657;19826114;19906200;20022954;20071584;20227371;20357690;20379614;20402676;20453000;20978129;22191568;14523016;21284734;19153467;20013803;20667824;19913121;20628086;20644561;20650551;20661084;20804486;15749826;20800603;20855536;20887385;20959405;21048031;20227384;16344560;17207965;20042134;21045158;21266831;21659556;21091209;21382445;10206961;21297999;21757755;21827945;20060927;21117896;21282934;21644232;21869827;21565459;21622622;21538054;21555338;21868008;18022362;21944661;21612408;21724551;21785112;21957492;21461653;22339913;21142842;21988832;22086301;14512414;16339151;16701639;17179183;19698783;15507451;22573662;22981751;22306364;23038270;10085063;11393657;23396972;23430060;23443079;23539542;23566959;23572523;23615977;23637769;22944165;16322207;21396853;22120515;15254227;17409234;17653867;17967742;19013323;19275583;19275584;19275586;19275587;19458171;19674438;19692467;19895210;20012528;20340172;20404718;21483669;22219640;22552851;22629415;22683311;22974165;23383273 842 F8VVS7;F8VWA5;H0Y3S8;H0Y6Y2;Q59GG2;Q5JRU2;Q5JRU8;Q9UEQ3 AA534393;AB015653;AB019205;AB020979;AB209147;ABBA01004708;AF093130;AF110376;AJ781267;AK292080;AK292111;AK303743;AL512883;AMYH01000270;AMYH01000271;AMYH01000272;AY214168;AY732490;BC002452;BC006463;BT006911;CH471167;DA078665;HY027003;NG_029188;NM_001229;NM_001278054;NM_032996;NR_102732;NR_102733;U56390;U60521 AAC50640;AAC50776;AAD12248;AAD13615;AAH02452;AAH06463;AAO21133;AAP35557;AAV33129;ABM82619;ADQ31742;BAA78780;BAA82697;BAA87905;BAD92384;BAF84769;BAF84800;BAG64715;CAH03131;EAW51730;EAW51731;NP_001220;NP_001264983;NP_127463;P55211 Hs.329502 1788286;1788288;1788290;1788292;1788294;1789807;1789809;1795474;1848686;1848918;2124737;2130918;2172257;5016781 CASP9_492;G67485;G67486;G67487;G67488;G67489;RH67819;SHGC-36104;SHGC-52575;SHGC-67307;SHGC-7118;SHGC-74255;csnpcasp9-pcr4-1;csnpcasp9-pcr6-1 APAF-3;APAF3;CASPASE-9c;ICE-LAP6;MCH6;PPP1R56 CASP-9;ICE-like apoptotic protease 6;OTTHUMP00000002322;OTTHUMP00000002323;OTTHUMP00000002324;OTTHUMP00000242817;OTTHUMP00000242819;apoptotic protease MCH-6;apoptotic protease activating factor 3;apoptotic protease-activating factor 3;caspase 9;caspase 9, apoptosis-related cysteine protease;caspase-9;protein phosphatase 1, regulatory subunit 56 APPROVED protein-coding ENSG00000132906 1511 03756 602234 REVIEWED 1352997 CATHL4 cathelicidin 4 (indolicidin) 7589491 852 1521 1351205 CATHL3 cathelicidin 3 (bactenin 7) 7589491 851 1520 1345684 CATHL5 cathelicidin 5 7589491 853 1522 1344569 CATHL6 cathelicidin 6 7589491 854 1523 1343768 CATR1 CATR tumorigenicity conversion 1 7604004 856 Q13166 U25433 2114498 SHGC-35496 1525 600676 10291 CASR calcium-sensing receptor The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008] 3 3 q13 123385220 123488032 + 121902530 122005344 + 734699;1600616;1580863;1598940;734698;6480464;6484113;7207059;7205499;7205502;7205505;7205436;7205447;7205497;7207227;7205669;7205434;7205446;7205664;7205672;7207060;7204717;7205442;7205445;7205454;7205455;7205468;7205656;7205666;7205440;7205678;7205444;7205661;7205675;7205677;7205503;7205448;7240710;7205698 12241879;7916660;7874174;12671052;22192592;21034470;19887834;19640368;7493018;21183554;15347804;12239094;22730443;20846291;21966463;11044218;22527939;15637145;8813042;22844268;20602573;18852253;17537980;21667241;20501971;12239240;7726161;22098336;20705733;19188910;22137721;22137362;9253359;20067903;21766206 18328986;18322048;14713274;12018449;22192860;7759551;19474519;19471101;19453261;19432691;19423559;19397786;19350667;19328421;19285978;19237714;19179454;19157541;19133942;19088423;19073830;19066294;19058262;19038444;18980667;18938753;18843020;18796518;18756473;18751724;18712808;18703641;18680227;18676680;18622738;18621740;18525093;18497443;18443236;18410554;18393231;18348986;22315359;22403735;17122384;17110864;17097611;17062884;17054460;17046587;17018660;16938272;16854379;16740430;16738533;16735501;16642557;16622736;16616098;16598859;16596260;16509534;16497624;16472767;16278666;16218047;16147994;16117875;16109841;15960151;15888439;15879434;15864123;15837785;15805541;15781005;15718278;15684428;15657061;15613438;15598778;15591042;15579475;15572418;15551332;15531522;15501733;15489334;15472173;15219850;15201280;14985373;14976203;14729680;18296474;18065418;17979873;17974568;17962359;17932932;17853337;17698911;17623778;17591780;17513419;17482347;17478419;17473068;17463182;17426287;17374709;17374704;17372216;17332735;17331389;17320849;17310098;17309124;17284438;17138967;17132283;17124506;14660633;14508624;12914574;12899245;12890593;12783889;12773131;12700051;12656660;12605346;12574201;12544508;12517779;12477932;12469911;12459170;12409307;12399473;12150336;12095982;12052452;12050233;12040821;12036954;22187299;11979955;11907035;11889203;11889154;11863123;11762699;11668634;11589681;11390380;11390379;11248745;11161843;11108243;11095989;11013439;10487661;10405337;9920407;9920108;9852126;9722601;9694886;9677383;9298824;9217223;9168937;8756555;8733126;8702647;8675635;8613532;8597637;7677761;7673400;11984699;22798347;20421307;12356761;16513638;18240029;19011996;19035514;19151705;19170196;19257819;19389809;19621386;19625176;19690432;19692168;19695239;19706842;19716891;19789209;19839774;19912241;19915295;20034274;20130845;20164288;20237496;20361938;20364112;20424473;19580466;16754659;20595056;20798521;21048031;21082232;20457124;20631026;20668040;18577758;19913121;20558521;20558539;20628086;20634891;20648625;20654748;20661308;20697181;20826781;21084311;21130730;21414629;21187282;21209619;23103379;21240254;21532883;21566074;17555508;21317879;21441391;21369680;21340433;22107799;21965686;21843504;22024717;21645025;22094462;23169696;22424352;22577108;22144504;22278364;21393549;22210744;22158862;22010828;22422767;22789683;23125333;23271661;23247143;23300272;23372019;22449852;23108190 846 E7ENE0;P41180 ABBA01016471;AC068630;AC068754;AMYH01013430;AY259116;BC104999;BC112236;BP388878;CH471052;D50855;DQ088967;DQ327723;DQ327724;DQ327725;DQ327726;DQ327727;DQ327728;FJ360896;GM692549;JA910713;JB138639;NG_009058;NM_000388;NM_001178065;S68032;S68033;S68036;S79217;S81755;S83176;U20759;U20760;W56898;X81086 AAA86503;AAA86504;AAB29413;AAB29414;AAB29415;AAB35262;AAB46873;AAD14370;AAI05000;AAI12237;AAP20759;AAY68221;ABD04091;ABD04092;ABD04093;ABD04094;ABD04095;ABD04096;ACJ04039;BAA09453;CAA56990;CAV33589;CCV20013;CCW28005;EAW79490;EAW79491;EAW79492;NP_000379;NP_001171536;P41180 Hs.435615 1655751;1688126;1699736;1709796;1712741;1738925;1763765;1772873 D3S3193;RH103474;RH121068;RH99210;SHGC-147441;SHGC-35350;SHGC-77256;SHGC-84714 CAR;EIG8;FHH;FIH;GPRC2A;HHC;HHC1;MGC138441;NSHPT;PCAR1 OTTHUMP00000215576;OTTHUMP00000215577;calcium-sensing receptor;extracellular calcium-sensing receptor;parathyroid Ca(2+)-sensing receptor 1;parathyroid cell calcium-sensing receptor APPROVED protein-coding ENSG00000036828 1514 03122 145980;146200;239200;601199;612899 REVIEWED 1321668 CASS4 Cas scaffolding protein family member 4 20 20 20 q13.31 51727599 51774824 + 54420771 54467243 + 54987168 55034396 + 6480464 18256281;15489334;14702039;12477932;11780052;16344560;23001926;19380743 57091 B4DII4;Q9NQ75 ABBA01052892;ABBA01052893;AJ276678;AK027760;AK295613;AK308057;AK314653;AL121914;AMYH01012005;BC027951;BX280195;CH471077;DA584687;NM_001164114;NM_001164115;NM_001164116;NM_020356 AAH27951;BAB55351;BAG58496;CAC00655;EAW75541;EAW75542;EAW75543;EAW75544;EAW75545;EAW75546;EAW75547;NP_001157586;NP_001157587;NP_001157588;NP_065089;Q9NQ75 Hs.473144 1709174;2133205;2135529;5024761 D20S775;D20S777;RH36905;SHGC-85749 C20orf32;CAS4;HEFL;HEPL HEF-like protein;HEF1-EFS-p130Cas-like protein;OTTHUMP00000031328;OTTHUMP00000031329;cas scaffolding protein family member 4 protein-coding ENSG00000087589 15878 09842 VALIDATED 1321252 CATSPER1 cation channel, sperm associated 1 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008] 11 11 q12.1 65540799 65550560 - 65784223 65793988 - 1580863;6480464;7240710 16740636;19344877;16625279;16382101;16189514;14688170;12477932;11675491;11595941;11595929;21412338;21412339;18976756;20648059;21404705;20301780;22354039;23530196;23344959 117144 Q8NEC5 ABBA01024093;AF407333;AMYH01003728;AP006287;BC032950;BC036522;CH471076;NG_016285;NM_053054 AAH32950;AAH36522;AAL14105;EAW74488;EAW74489;NP_444282;Q8NEC5 Hs.189105 CATSPER;MGC33335;MGC33368;SPGF7 OTTHUMP00000233989;cation channel sperm-associated protein 1;hCatSper;sperm ion channel;sperm-associated cation channel 1 APPROVED protein-coding ENSG00000175294 17116 09396 606389;612997 REVIEWED 1316921 CATSPER2 cation channel, sperm associated 2 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Additional splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Aug 2008] 15 15 15 q15.3 20691389 20709656 + 41710064 41728331 - 43922772 43941039 - 1580863;6480464 16740636;16382101;14702039;12477932;11675491;11595929;17207965;20379614;20301780 117155 B8ZZQ9;C9IZ96;E7EX46;F8W9H2;H7BZ89;H7C2X6;Q96P56 ABBA01049637;ABBA01049638;AC011330;AF411817;AF411818;AF411819;AK093318;AK122607;AMYH01006601;AW135409;BC028728;BC064387;BX648099;CH471308;NG_009283;NM_054020;NM_172095;NM_172097 AAH28728;AAH64387;AAL26490;AAL26491;AAL26492;ADQ32834;BAG53620;EAW50798;EAW50801;EAW50802;NP_473361;NP_742093;NP_742095;Q96P56 Hs.662284 1799086;1801674;1805630;1810882;1811414;1811656;1811982;1812056;1817178;1818190;1819356;1819688;1820688;1822272;1823790;1826022;1826114;1826116;1826206;1833094;1833560;1834894;1838602;1840486;1842610;1844786;1845826;1933032;1933034;1933036;1933038;1933040;1933042;1933044;1933046;1933048;1933050;1933052;1933054;1933056;1933058;1933060;1933062;1933064;1933066;1933068;1933070;1933072;1933074;1933076;1933078;1933080;1933082;1933084;1933086;1933088;1933090;1933092;1933094;1933096;1933098;1933100;1933102;1933104;1933106;1933108;1933110;1933112;1933114;1933116;1933118;1933120;1933122;1933124;1933126;1933128;1933130;1933132;1933134;1933136;1933138;1933140;1933142;1933144;1933146;1933148;1933268;1933276;1933278;1933286;1933300;1933302;1933312;1933318;1933356;2208940;2208942;2208944;2208946;2208948;2208950;2208952;2208954;2208956;2208958;2208960;2208962;2209022;2209024;2209026;2209030;2209032;2218338;5014003;5022651;5037552 CATSPER2_4515;D11S2921;D17S1136;D8S2279;ECD00389;ECD01716;ECD03765;ECD06439;ECD06705;ECD06831;ECD06996;ECD07033;ECD09639;ECD10152;ECD10745;ECD10911;ECD11419;ECD12222;ECD12987;ECD14120;ECD14166;ECD14167;ECD14214;ECD17689;ECD17923;ECD18597;ECD20475;ECD21429;ECD22512;ECD23609;ECD24132;REN37348;REN37349;REN37350;REN37351;REN37352;REN37353;REN37354;REN37355;REN37356;REN37357;REN37358;REN37359;REN37360;REN37361;REN37362;REN37363;REN37364;REN37365;REN37366;REN37367;REN37368;REN37369;REN37370;REN37371;REN37372;REN37373;REN37374;REN37375;REN37376;REN37377;REN37378;REN37379;REN37380;REN37381;REN37382;REN37383;REN37384;REN37385;REN37386;REN37387;REN37388;REN37389;REN37390;REN37391;REN37392;REN37393;REN37394;REN37395;REN37396;REN37397;REN37398;REN37399;REN37400;REN37401;REN37402;REN37403;REN37404;REN37405;REN37406;REN37467;REN37471;REN37472;REN37476;REN37483;REN37484;REN37489;REN37492;REN37511;stSG627831;stSG627832;stSG627833;stSG627835;stSG627836;stSG627837;stSG627838;stSG627840;stSG627841;stSG627842;stSG627843;stSG627845;stSG627910;stSG627911;stSG627912;stSG627914;stSG627917 MGC33346 OTTHUMP00000066276;OTTHUMP00000066277;OTTHUMP00000066278;OTTHUMP00000199626;cation channel sperm-associated protein 2;sperm ion channel APPROVED protein-coding ENSG00000166762 18810 16236 607249 REVIEWED 1606535 CASZ1 castor zinc finger 1 The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 1 1 1 p36.22 9808055 9967917 - 10619248 10779294 - 10696661 10856733 - 6480464 21490919;17044048;17940511;18805397;22262398;19430479;17727731;16710414;16631614;16322216;15489334;14702039;12477932;8125298;21572416;18029348;20479155;21252912;21832049;22068036;22331471 54897 B3KRV8;K7EQC6;Q9NXC6 AA449398;ABBA01035608;ABBA01035609;ABBA01035610;ABBA01035611;ABBA01035612;ABBA01035613;ABBA01035614;AK000328;AK022285;AK092289;AK130996;AK225324;AK293839;AK311700;AL031984;AL139423;AL157717;AMYH01000247;AMYH01000248;AMYH01000249;AMYH01000250;BC004410;BC051883;CH471130;DQ217660;DQ372703;NM_001079843;NM_017766;R85589 AAH04410;AAH51883;ABB29845;ABD14411;ABZ92343;BAA91089;BAC85474;BAG52520;BAH11609;EAW71662;EAW71663;NP_001073312;NP_060236;Q86V15 Hs.439894 1335260;1670168;1693780;1732922;1733052;1748407;1765175;1765405;1849199;2171498 AL009635;D1S1327;D1S1401;D1S2213;D1S3153;D4Ertd432e;SHGC-148685;SHGC-148892;SHGC-31243;SHGC-58917 CAS11;CST;FLJ12223;FLJ20321;RP4-734G22.2;SRG;ZNF693;dJ734G22.1 OTTHUMP00000002017;OTTHUMP00000002018;castor homolog 1, zinc finger;castor-related protein;putative survival-related protein;survival related;survival-related;zinc finger protein 693;zinc finger protein castor homolog 1 APPROVED protein-coding ENSG00000130940 26002 07897 609895 REVIEWED 1625093 CATSPER2P1 cation channel, sperm associated 2 pseudogene 1 Catsper genes belong to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. This gene is part of a tandem repeat on chromosome 15q15; this copy of the gene is thought to be a pseudogene. [provided by RefSeq, Oct 2008] 15 15 15 q15.3 20917594 20927959 - 41815424 41825788 - 44028132 44038496 - 18085818;17098888;12825070;12477932;18974790 440278 ABBA01039224;ABBA01039225;ABBA01039226;AC018512;AMYH01006606;BC047442;BC052612;BC066967;NR_002318 Hs.253260 1798698;1799086;1801048;1805630;1810882;1811656;1817956;1818400;1819356;1819688;1834894;1837116;1838908;1841470;1842610;1844552;1844786;1933092;1933096;1933112;1933114;1933120;1933122;1933126;1933132;1933144;1933156;1933302;1933304;1933306;1933308;1933310;1933312;1933314;1933316;1933318;1933320;1933322;1933324;1933326;1933328;1933330;1933332;1933334;1933336;1933338;1933340;1933342;1933344;1933346;1933348;1933350;1933352;1933354;1933356;1933358;1933360;1933362;1933364;1933366;1933368;1933370;1933372;1933374;2208950;2208954;2208962;2209026;2209028;2209030;2209032;2209034;2209036;2209038;2218338 CATSPER2_4515;ECD00189;ECD00389;ECD01392;ECD03765;ECD06439;ECD06831;ECD10033;ECD10258;ECD10745;ECD10911;ECD18597;ECD19723;ECD20633;ECD21931;ECD22512;ECD23490;ECD23609;REN37378;REN37380;REN37388;REN37389;REN37392;REN37393;REN37395;REN37398;REN37404;REN37411;REN37484;REN37485;REN37486;REN37487;REN37488;REN37489;REN37490;REN37491;REN37492;REN37493;REN37494;REN37495;REN37496;REN37497;REN37498;REN37499;REN37500;REN37501;REN37502;REN37503;REN37504;REN37505;REN37506;REN37507;REN37508;REN37509;REN37510;REN37511;REN37512;REN37513;REN37514;REN37515;REN37516;REN37517;REN37518;REN37519;REN37520;stSG627837;stSG627840;stSG627845;stSG627912;stSG627913;stSG627914;stSG627917;stSG627918;stSG627919;stSG627922 APPROVED pseudo ENSG00000205771 31054 VALIDATED 737362 CAST calpastatin The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 5 5 q15 96023697 96136143 + 95997741 96110387 + 1580863;1626249;5509809;5509819;5509812;5509823;5509799;5509801;5509800;5509813;5509814;5509817;5509810;5509822;5509818;5509821;5683871;5683619;6480464;5683320;5683321;5683620;5683622;5683623;5683872;5683869 17429681;19020018;15654835;17359359;11035539;20595388;20116408;20127884;16467455;16314468;16236382;17853947;11264179;15863237;15307896;15563579;9256029;10722997;10318818;7706496;15540513;12367559;12482022;16871587 17474147;19365859;19103264;18809371;18793761;18724972;18544539;18537264;18519038;18498295;18340456;18195134;18165173;17950697;17137217;17081983;16381901;15950654;15820218;15489336;15489334;15302935;15014085;14992597;14702039;14685690;14612448;14559243;12923177;12684003;12591934;12482888;12477932;11978196;11849768;11230166;11076863;10942721;10859257;10822276;10731697;10600505;9873017;9705209;9213221;8340353;7998969;7951045;7710300;7638179;2849943;2577276;2559735;2553724;2265559;1995645;1569094;2548504;2407243;22572592;15101818;19581569;19756344;20379614;20953190;19913121;20628086;20679491;21263028;22206846;22939629;22863883;21983488;21424381;21531560;21839844;21937422;21906983;22046434;22286212;19322201;22288381;23449483;23140395;15044459 831 B7Z468;B7Z574;D6RAA8;D6RBR1;D6RBZ8;D6RC54;D6RGF7;E7EN75;E7EQ12;E7EQA0;E7EQK6;E7ES10;E7ESM9;E7EVY3;E9PCH5;E9PDE4;E9PSG1;F8W7E0;H0Y7F0;H0Y944;H0Y9H6;H0YA91;H0YD33;P20810;Q59HE3;Q86YM9 AB026049;AB208816;ABBA01069229;ABBA01069230;ABBA01069231;AC008906;AC020900;AF095891;AF327443;AK098137;AK292289;AK292356;AK296919;AK297879;AK298541;AK299384;AK299402;AK300624;AK302206;AK303836;AK303900;AK311585;AK311598;AK314290;AK315146;AK315673;AL832174;AL832349;AMYH01015491;AY189741;BC013579;BC016066;BC078149;BQ420953;BQ893654;BT009783;BX648397;CD702474;CH471084;D16217;D50827;DB450697;DC424542;DR004967;M28227;M28228;M28229;M28230;M33328;M86258;NG_029490;NM_001042440;NM_001190442;NM_173060;NR_033798;S73329;U26724;U31345;U31346;U38525;U58996;U83601 AAA52066;AAA52296;AAA80684;AAB32311;AAB41237;AAB59398;AAB60371;AAB60372;AAC14353;AAC50136;AAD09102;AAG48151;AAH13579;AAH16066;AAH78149;AAO34397;AAP88785;ABM82405;ABM85594;BAA03747;BAA09438;BAA76923;BAD92053;BAF84978;BAF85045;BAG37594;BAG38038;BAH12454;BAH12685;BAH12810;BAH13022;BAH13025;BAH13316;BAH13650;BAH14064;BAH14077;CAL38303;CAL38312;EAW96064;EAW96065;EAW96066;EAW96067;EAW96068;EAW96069;EAW96070;EAW96071;EAW96072;EAW96073;EAW96074;EAW96075;EAW96076;NP_001035905;NP_001177371;NP_775083;P20810 Hs.436186 1652811;1661367;1666189;1777714;1794170;1854165;2106439;2117015;2140895;2151084;2151157;2162460;2182273;2187627;5095827;5106759;5121009 A009U12;ARTS-1__4376;D5S1571E;D5S2413;D5S2629;D5S2667;PMC310823P10;RH36372;RH46487;RH47549;RH69827;RH70772;RH77935;RH79021;STS-D29461;WI-18741;WI-7819 BS-17;MGC9402 OTTHUMP00000158519;OTTHUMP00000158520;OTTHUMP00000179127;OTTHUMP00000222728;OTTHUMP00000222729;OTTHUMP00000222731;OTTHUMP00000222732;OTTHUMP00000222733;OTTHUMP00000222734;OTTHUMP00000222735;OTTHUMP00000222737;OTTHUMP00000222738;OTTHUMP00000222739;OTTHUMP00000222740;OTTHUMP00000222748;OTTHUMP00000222806;calpain inhibitor;calpastatin;sperm BS-17 component APPROVED protein-coding ENSG00000153113 1515 00233 114090 REVIEWED 1313883 CATSPER3 cation channel, sperm associated 3 5 5 5 q31.1 130427337 130471182 + 134331513 134375285 + 134303596 134347397 + 1580863;6480464 18391951;17227845;16382101;12932298;12646162;12477932;23568457;23263487 347732 Q86XQ3 ABBA01068730;AC004764;AC008406;AC008670;AF432876;AK292427;AMYH01015626;AW008956;AY156951;BC101692;BC110384;BI827754;BN000272;CH471062;NM_178019 AAI01693;AAI10385;AAO13012;AAO85416;BAF85116;CAE30476;EAW62228;NP_821138;Q86XQ3 Hs.631804 1778009;1780656;2126389 RH69300;SGC30875;bac51529T CACRC;MGC126741 OTTHUMP00000159408;ca(v)-like protein;calcium channel repeat containing 1;cation channel sperm-associated protein 3;one-repeat calcium channel-like protein;putative ion channel CatSper3 protein-coding ENSG00000152705 20819 16447 609120 VALIDATED 732740 CAT catalase This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009] 11 11 p13 34417054 34450183 + 34460472 34493607 + 1581147;1581148;1581149;1581150;1581151;1300375;1300048;1580863;2317410;5130200;5130770;5130747;5130748;5130873;5130750;4293707;5130744;5130751;5130752;5130864;5130871;5130856;5130199;5130201;5130202;5130768;5130869;5130749;5130891;5130753;5130760;5130761;5130771;5130772;5130773;5130860;5130875;5130876;5130878;5130745;5130755;5130756;5130867;6480464;6907045;7240710;7205651;7205676;7205647;7205662;7205663;7205665;6892947;7206853;7205671 15735318;14575298;11510883;10652196;10618301;2308162;12499913;20888583;21471094;19895324;19842849;21339256;19693467;20080081;19959187;19475625;19445928;16804020;21452373;18048809;21190578;20653246;20534640;19151196;21463646;19778612;21213399;19373626;19196076;19188683;20493834;20376213;18793622;17895592;21314438;21305585;10569634;19897513;19298531;19273541;16622028;22315314;20299359;22443450;21686137;21557843;21525431;20007347;22733796;20685819 22167619;10656833;16644728;18312938;18379038;11134921;17053817;19505917;19497990;19424819;19336475;19274593;19255063;19254215;19242068;19172437;19124506;19092850;19064360;19050255;18977241;18949620;18936436;18930811;18682580;18634817;18606005;18485895;18483329;18469277;18423055;18415766;18368408;18353692;18248894;18171680;17937824;17879952;17850515;17696155;17693525;17646900;17634480;21083503;17601350;17577741;17567781;17567676;17549373;17548672;17264407;17213227;17209132;17171548;17145829;17005595;16956821;16868544;16775184;16773213;16729966;16630078;16600249;16586065;16554811;16523188;16504657;16482509;16467073;16453382;16424062;16387755;16385446;16298864;16236267;16204228;16192345;16098030;16076760;16047490;16026777;15988600;15934434;15870505;15800961;15774926;15733034;15705913;15556604;15528999;15489334;15472150;15203188;15182856;15133753;15131792;15125229;14962975;14710363;14580687;12950161;12838770;12824748;12777400;12730222;12665801;12606529;12603857;12516882;12487379;12477932;12469627;12468545;12447480;12372460;12231449;12165738;12110367;12032677;11907164;11837458;11729237;11728823;11479740;11313354;11182520;11106583;10960480;10666617;10567403;22108257;22089180;22286031;10488055;10096042;9848047;9818873;8479912;8282800;6548744;6252821;3944256;3755526;3755525;2268310;1551654;14975589;21069346;13904105;17566139;19170196;19341793;19399816;19409565;19538885;19584075;19615732;19622717;19625176;19688952;19692168;19705749;19731237;19787204;19855359;19863340;19874574;19896490;19897742;19902075;19929244;20020532;20049130;20078877;20082261;20097730;20105444;20109103;20110814;20194081;20416077;20444272;20494887;2991908;7829101;20732340;21179281;21131394;10567208;20923778;19913121;20301895;20485444;20613769;20628086;20643115;20649881;20727719;20851292;20878976;21053180;21054578;21054877;21191398;21109199;19949914;21799178;21295602;21180245;22958044;21832049;22939629;22970972;20178365;22736749;19479899;21417634;21964540;21976670;21689642;21827848;21829032;21921984;21985966;21985133;10514471;16781659;18781797;21139048;21890473;21906983;22242279;22907559;23340375;22058000;21968610;21947853;22880027;22465269;21988832;22002062;23390647;22556393;22998821;23066387;22645453 847 P04040;Q8TAK2 ABBA01060865;AK291585;AK301577;AK310184;AK315350;AL035079;AMYH01003488;AW023382;AY028632;AY545477;BC027300;BC110398;BC112217;BC112219;BI551632;CA748580;CH471064;K02400;L13609;NG_013339;NM_001752;X04076;X04085;X04096 AAA16651;AAB59522;AAH27300;AAI10399;AAI12218;AAI12220;AAK29181;AAS37679;ADR83058;BAF84274;BAG37746;BAG63070;CAA27717;CAA27721;EAW68170;EAW68171;NP_001743;P04040 Hs.502302 1664950;1671591;1675714;1691346;1718063;1741589;1742569;1748229;1748231;1748233;1748235;1748237;1760133;1795476;2131494;2143706;2146784;2151707 CAT_1268;D11S4340;G66721;G66722;G66723;G66724;G66725;GDB:181548;GDB:197896;RH122649;RH26629;RH27361;RH45987;RH78515;SHGC-132034;STS-H15685;STS-X04076;WI-19159 MGC138422;MGC138424 OTTHUMP00000041455;catalase APPROVED protein-coding ENSG00000121691 1516 00282 115500;614097 REVIEWED 1322128 CATSPERG catsper channel auxiliary subunit gamma CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010] 19 19 19 q13.1 35628680 35663824 + 43518298 43553422 + 38826443 38861589 + 737633;6480464 12477932 19516020;16344560;14702039;22990118;22118674 57828 B8ZZI7;F8WDD6;H9KV36;K7EQR6;K7EQY4;M0QZ16;O75294;Q32MQ2;Q6ZRH7 ABBA01040680;AC005625;AC005789;AC026806;AK096218;AK128039;AK128220;AK310460;AL133023;AMYH01009780;AW072458;BC033852;BC060889;BC094785;BC109035;BG719195;CH471126;DB096694;NM_021185 AAC34570;AAC34571;AAI09036;BAC87333;CAH56391;EAW56777;EAW56778;EAW56779;EAW56780;EAW56781;EAW56782;EAW56783;NP_067008;Q6ZRH7 Hs.324335 1677895;1719517;5014019;5015404;5016851;5020414;5020946;5022383;5037552;5109281 D1S1425;D5S2354;D8S2279;ECD04345;L17688;L17705;L17971;RH123479;RH80031;RH92232 C19orf15;DKFZp434A1022;FLJ38899;FLJ46353;MGC125664 OTTHUMP00000203420;OTTHUMP00000203421;OTTHUMP00000203422;OTTHUMP00000203424;cation channel sperm-associated protein subunit gamma;cation channel, sperm-associated, gamma APPROVED protein-coding ENSG00000099338 25243 12698 613452 VALIDATED 1350186 CATSPER4 cation channel, sperm associated 4 1 1 1 p35.3 24913482 24925399 + 26389706 26401620 + 26517119 26529033 + 6480464 12932298;17227845;16382101;20546612;12477932;19343178 378807 J3KNU1;Q7RTX7 ABBA01034899;AL355877;AMYH01000396;BC128138;BC128139;BC144663;BN000273;CH471059;NM_198137 AAI28139;AAI28140;CAE30475;EAX07839;NP_937770;Q7RTX7 Hs.123532 1672198;1685343;1732890;2107941;2163704;5019647 A006D29;CNKSR1_9077;D1S1309;G32327;RH92197;STS-R48282 MGC149223 OTTHUMP00000008765;OTTHUMP00000228342;OTTHUMP00000228343;cation channel sperm-associated protein 4;ion channel CatSper4 protein-coding ENSG00000188782 23220 18607 609121 VALIDATED 1604493 CATSPERD catsper channel auxiliary subunit delta 19 19 19 p13.3 5658055 5716734 + 5671688 5729742 + 5720688 5778742 + 6480464 12477932;20379614;21224844 257062 F5GZE9;Q86XM0 ABBA01055991;ABBA01055992;ABBA01055993;ABBA01055994;ABBA01055995;ABBA01055996;ABBA01055997;ABBA01055998;AC011499;AK128088;AMYH01009364;AMYH01009365;AMYH01009366;BC031233;BC043005;CH471139;NM_152784 AAH31233;AAH43005;EAW69148;EAW69149;EAW69150;NP_689997;Q86XM0 Hs.631842 5014051;5015619;5016596;5016700;5022200;5037552 D11S3114;D8S2278;D8S2279;GDB:631802;L18426;RH79802 MGC39581;TMEM146 OTTHUMP00000183708;OTTHUMP00000183709;catSper-delta;catSperdelta;cation channel sperm-associated protein subunit delta;transmembrane protein 146 APPROVED protein-coding ENSG00000174898 28598 17541 VALIDATED 1345422 CATSPERB catsper channel auxiliary subunit beta 14 14 14 q32.12 72095740 72251049 - 91116871 91268166 - 92047118 92198413 - 6480464 17478420;17081983;14702039;12477932;20164292;10737800;20967262 79820 B3KWW9;G3V2V0;G3V352;G3V584;H0YJA5;Q9H7T0 ABBA01030472;ABBA01030473;ABBA01030474;AK024360;AK126034;AL121839;AL133373;AMYH01005954;AMYH01005955;BC016315;BC126214;BC126216;BE695220;FY210737;FY211725;FY212048;FY212994;NM_024764 AAI26215;AAI26217;BAB14896;BAG54281;NP_079040;Q9H7T0 Hs.131755 1338522;1679177;1725545;1732001;1748757;1759151;1760491;1775766;2120016;2158511;2164412 D14S280;D14S300;G35406;G35485;G35722;G36228;RH119171;RH99035;SHGC-110388;SHGC-1415;SHGC-143431 C14orf161;CatSper(beta);FLJ14298 OTTHUMP00000245150;catSper-beta;cation channel sperm-associated protein subunit beta;cation channel, sperm associated beta;cation channel, sperm-associated, beta APPROVED protein-coding ENSG00000133962 20500 16613 611169 VALIDATED 1319231 CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008] 20 20 q11 31541589 31701498 + 32077928 32237837 + 1580863;6480464 16966434;19026687;18586123;16713569;16189514;15489334;15302935;15146197;12477932;12242670;11780052;10675041;9790752;9787195;9447981;16407974;14703694;15333839;22443175;19060904;20520637;16227606;20211142;21832049;22498736 9139 A2A2D9;Q5TGE8;Q68DC6;Q96B06 AB209306;ABBA01019224;ABBA01019225;ABBA01019226;ABBA01019227;ABBA01019228;ABBA01019229;ABBA01019230;AF013970;AF039200;AF052210;AF052211;AF052212;AF068266;AF069747;AF076452;AK294168;AK307887;AK314159;AL034421;AL121906;AL162505;AMYH01011854;AMYH01011855;BC015066;BC016298;BC040344;CB998035;CH471077;CN347014;CR749462;NM_001032999;NM_001039709;NM_005093 AAC17499;AAC19378;AAC39841;AAC64699;AAC64700;AAD02825;AAD41221;AAH15066;AAH16298;AAH40344;ABZ92457;ADZ15879;BAD92543;BAG36843;BAG57490;CAH18294;EAW76311;EAW76312;EAW76313;NP_001028171;NP_001034798;NP_005084;O43439 Hs.153934 1340073;1646524;1646526;1665442;1691604;1693348;1698658;1735006;1759673;1847943;2120842;2125577;2144188;2145511;2152036;2154841;2158757;2167380;2170936;2174444;2185541;5022450;5022651;5037552;5109281;5121147 A001X17;AL032536;AL034532;CHLC.GATA24A11;D10S275;D11S2921;D1S1425;D20S1071;D20S552E;D20S554E;D20S734;D20S815;D20S890;D8S2279;G06317;G18081;G19744;G31204;RH102888;RH11816;RH16591;RH18390;SHGC-150946;SHGC-7112;T15360;Z94436 DKFZp313F2116;EHT;MTGR1;ZMYND3;p85 ETO homolog on chromosome 20;ETO homologous on chromosome 20;MTG8-like protein;MTG8-related protein 1;OTTHUMP00000030653;OTTHUMP00000030654;OTTHUMP00000030656;myeloid translocation gene-related protein 1;myeloid translocation-related protein 1;protein CBFA2T2 APPROVED protein-coding ENSG00000078699 1536 04721 603672 REVIEWED 1344208 CAV3 caveolin 3 This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] 3 3 p25 8750496 8763451 + 8775486 8788451 + 1599529;1582168;1599542;1580863;6480464;6484113;6907045;7240710 9537420;15925413;12566108 8567687;7797570;10988290;17275750;12847114;17524427;17060380;19481058;19380584;19238754;19219452;19101541;18930476;18671188;18583131;18509671;18487559;18253147;17615539;17537631;17405141;17307729;17210839;17039257;16770780;16563233;16521037;16479074;16458928;16247063;16082247;15682833;15668980;15580566;15564037;15541368;15489334;15099591;14981167;14749532;14729862;14672715;14663034;14600260;12939441;12839838;12666119;12648214;12557291;12477932;12387816;12082049;11904769;11884389;11821059;11805270;11756609;11532985;11431690;11251997;11115849;11001938;10835421;10746614;10386585;9756945;9545514;9536092;9374534;9353265;9252390;10066366;22879586;18985008;19544087;19584897;19773168;20201926;20346360;20229577;20558763;20472890;19913121;20628086;21084288;23071107;21362625;21496630;21362533;21294223;22236542;20301308;20301559;20301725;18936328;21988832;15703204;23237801 859 P56539 AA993189;ABBA01020417;AC068312;AF036365;AF036366;AF036367;AF043101;AF204690;AK291892;AMYH01012962;BC069368;BC102033;BC102036;BC102037;BF310794;BX114193;CH471055;NG_008797;NM_001234;NM_033337;Y14747 AAC14931;AAC39756;AAC39758;AAG02025;AAH69368;AAI02034;AAI02037;AAI02038;BAF84581;CAA75042;EAW63945;EAW63946;NP_001225;NP_203123;P56539 Hs.98303 1338032;1687642;2218340 CAV3_2400;D3S1597;RH92828 LGMD1C;LQT9;MGC126100;MGC126101;MGC126129;VIP-21;VIP21 M-caveolin;OTTHUMP00000115603;OTTHUMP00000207105;caveolin-3 APPROVED protein-coding ENSG00000182533 1529 03154 123320;192600;601253;606072;607801;611818;614321 REVIEWED 1321512 CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010] 16 16 q24 87468768 87570902 - 88941263 89043504 - 1580863;6480464 16966434;9447981;18950503;18656694;18586123;18456661;15231665;14703694;14702039;12477932;12242670;12213200;12183414;11999578;11823486;9790752;9596646;16407974;11533236;22443175;23153540;20116376;20138877;15342556;20603019;22420028;22498736;19497860;22010104;21988832;23127762;17203973;23251453 863 E7EU24;H3BMZ0;H3BNH2;H3BNI7;H3BR72;H3BSI4;H3BU07;J3QRB1;Q0P5Z6 AB010419;AB010420;AB013286;ABBA01013588;ABBA01013589;ABBA01013590;ABBA01013591;ABBA01013592;AC092384;AF052213;AF052214;AF052215;AF052216;AF052217;AF052220;AK090985;AK097904;AK308355;AK314766;AMYH01007917;AMYH01007918;AMYH01007919;AMYH01007920;AMYH01007921;BC009554;BC047019;BC062624;BE243049;BE676580;BP282804;CH471184;HI573916;HI573918;NG_029533;NM_005187;NM_175931 AAC64698;AAC64701;AAC64702;AAH47019;AAH62624;ABZ92419;BAA29061;BAA29062;BAA31276;BAA31277;BAG37304;BAG52257;CBX47447;CBX47448;EAW66746;EAW66747;EAW66748;EAW66749;EAW66750;EAW66751;EAW66752;NP_005178;NP_787127;O75081 Hs.513811 1666229;1678241;1716377;1762953;1764563;2131458 RH121368;RH93203;SHGC-146703;SHGC-148155;SHGC-61188;SHGC-64049 ETO2;MTG16;MTGR2;ZMYND4 MTG8-related gene 2;MTG8-related protein 2;OTTHUMP00000175195;OTTHUMP00000175196;hMTG16;myeloid translocation gene 8 and 16b;myeloid translocation gene on chromosome 16 protein;protein CBFA2T3;zinc finger MYND domain-containing protein 4 APPROVED protein-coding ENSG00000129993 1537 04847 603870 REVIEWED 1343117 CAV2 caveolin 2 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011] 7 7 q31.1 115926680 115935831 + 116139655 116148595 + 1600654;1625364;1580863;6480464;6784517;6784520;6484113;6907045 16258026;17060028;22528460;22492718 10212252;8552590;12743374;15788404;11256614;18081315;17912630;17898556;17671707;17615539;17567994;17081983;16904002;16521037;16381901;16244790;15968725;15703204;15583422;15569306;15504032;15489336;15489334;12866378;12813462;12782592;12690205;12648214;12496259;12477932;12414992;12138116;12091389;11752456;11515846;11294831;11076863;10817676;10675615;10464308;10218480;10087206;9837809;9801158;9707634;9361015;7829101;7479780;1360410;10675563;12633858;16169070;16799092;19948975;20062060;20209490;20346360;21373752;19913121;20628086;20819778;20835238;16341674;21178094;17192395;16344560;21321670;21551225;21873608;21900206;22236542;21139048;11238462;23056496;21489836;22819829;19931615 858 E9PCT3;P51636;Q53X57 AA878149;AA883287;AACC02000001;AB451285;AB451417;ABBA01057808;AC006159;AF035752;AI762868;AJ011300;AJ133269;AJ242718;AK024513;AK310786;AK311964;AMYH01017881;AV650449;AW022298;AY353255;BC005256;BM542127;BM762545;BT007051;BX350116;CH236947;CH471070;CR407685;DA882274;DQ656068;NG_029920;NM_001206747;NM_001206748;NM_001233;NM_198212 AAB88492;AAH05256;AAP35700;AAQ57600;BAG34904;BAG70099;BAG70231;CAB36907;CAB63653;CAB65090;CAG28613;CAL38690;EAL24361;EAL24362;EAW83499;EAW83500;EAW83501;EAW83502;NP_001193676;NP_001193677;NP_001224;NP_937855;P51636 Hs.212332;Hs.603096 1676476;1797348;1802708;1803184;1803692;1805770;1813864;1813938;1816738;1826650;1836322;1838350;1845638;1848956;1851284;1991982;1991984;1991986;1991988;1991990;1991992;1991994;1991996;1991998;1992000;1992002;1992004;1992006;1992008;1992010;1992012;1992014;1992016;1992018;1992020;1992022;1992024;1992026;1992028;1992030;1992032;1992034;1992036;1992038;1992040;1992042;1992044;1992046;1992048;1992050;1992052;1992054;1992056;1992058;1992060;2093226;2093228;2093230;2093232;2093234;2093236;2093238;2143975;5015619;5022234;5022578;5037552 CAV2_2353;D11S3114;D1S1423;D7S2814;D8S2279;ECD02241;ECD02483;ECD02752;ECD03836;ECD07958;ECD07996;ECD09413;ECD14439;ECD19323;ECD20349;ECD24037;L17708;REN66896;REN66897;REN66898;REN66899;REN66900;REN66901;REN66902;REN66903;REN66904;REN66905;REN66906;REN66907;REN66908;REN66909;REN66910;REN66911;REN66912;REN66913;REN66914;REN66915;REN66916;REN66917;REN66918;REN66919;REN66920;REN66921;REN66922;REN66923;REN66924;REN66925;REN66926;REN66927;REN66928;REN66929;REN66930;REN66931;REN66932;REN66933;REN66934;REN66935;RH65870;RH80255;STS-U32114;stSG597940;stSG597942;stSG597943;stSG597945;stSG597946;stSG597947;stSG597948 CAV;MGC12294 OTTHUMP00000025032;OTTHUMP00000195982;caveolae protein, 20-kD;caveolin 2 isoform a and b;caveolin-2 1643439 BW101_H APPROVED protein-coding ENSG00000105971 1528 03029 601048 REVIEWED 619568 CAV1 caveolin 1, caveolae protein, 22kDa The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010] 7 7 q31.1 115952075 115988466 + 116164839 116201239 + 1581152;1581153;1581154;1600654;1625360;1625364;1580863;2289101;2289102;2289112;2289109;2289124;2289103;2289106;2289110;2289111;2289113;2289120;2289125;2289100;2289104;2289105;2289107;2289116;2289123;2296031;6480464;6784517;6784532;6784520;6784526;6484113;6907045;7240710 16417587;15353500;11529503;16258026;17470567;17060028;17915016;17786030;11170154;14506154;17275798;16328005;15355971;12866378;11751529;11032026;17487232;17234162;9685399;15948133;15375584;15247769;17986358;17293479;17952758;22528460;22492718;21795534 11845324;22395498;22506673;22544366;22575653;21445970;21841821;22095627;22200856;22277751;22353223;22402147;19032226;19015640;19002186;18992712;18992284;18985008;18957516;18936967;18923542;18922892;18836420;18802406;18793348;18789131;18698612;18681962;18676680;18667611;18667513;18635971;18598695;18596970;18561140;18543249;18458534;18444242;18439424;15485672;15485671;15466889;15466865;15458387;15353589;15334058;15314095;15274335;15263006;15242332;15240128;15234575;15234566;15205342;15201341;15190056;15182174;15069532;15064242;15003536;14981899;14963033;14729661;14719121;14706341;14665433;14660607;14645548;14612902;14593097;14576164;12888893;12816877;12813462;12810205;12737162;12732636;12730243;12716887;12711000;12694195;12690205;12648214;12606314;12562842;12529448;12507501;12477932;12429840;12414992;12414512;12401329;12388423;12372346;12368209;12359771;12354760;12235142;12186899;12185081;12176037;12138116;12122055;12011038;11980479;11956154;11920460;11915322;11866528;11865038;11294831;12852865;19052258;17848177;12388746;12743374;14707126;15219854;15703204;9188442;9580552;10781589;16722822;16807357;19521982;19499152;19487814;19475601;19411449;19411448;19395651;19381331;19369293;19342880;19286607;19250636;19244345;19234134;19219452;19123976;19121286;19116988;19104007;19061949;19059381;18434090;18406871;18332144;18312604;18308897;18301242;18300018;18296864;18282163;18258603;18245088;18237401;18211975;18203815;18180853;18162583;18081315;18065769;18054388;18053095;17942630;17936759;17935714;17933968;17906498;17898556;17855368;17851687;17850762;17786288;17785436;17713785;17707459;17699771;17671707;17662641;17626097;17615539;17609206;17594718;17556531;17537407;17478448;17460461;17379346;17359972;17341888;17334644;17314510;17299799;17287217;17284246;17272740;18437015;17245131;17237399;17202321;17200343;17197700;17190831;17179151;17178917;17111160;17081983;17047056;17014845;16979166;16951145;16931572;16920641;16904002;16897435;16877379;16870193;16857240;16850311;16822931;16820915;16790997;16723714;16713605;16617096;16616146;16608879;16601841;16601146;16541313;16501093;16480767;16443388;16407214;16405917;16381901;16338968;16332692;16324201;16263077;16251425;16244790;16225848;16202996;15969750;15968725;15958730;15951569;15817451;15811424;15769846;15722199;15691837;15665033;15657086;15592498;15592455;15590415;15531587;15504729;15498565;15496150;15489336;15489334;11805080;11748236;11707266;11751885;11563984;11546661;11498016;11451957;11432874;11278309;11256614;11238032;11114180;11112773;11102446;11078729;11076863;11075810;11039464;10988071;10921915;10675563;10637311;10598578;10218480;10212252;10090765;10087206;10086342;10085129;10066366;9867838;9837809;9801158;9741627;9662443;9647788;9553108;9380697;9374534;9361015;9110174;8910575;8910295;8632005;8621645;8619474;8058322;1360410;1294831;15539149;14675200;11724572;12147258;10980191;11563969;15782218;23067370;23117935;21901744;22057638;22159333;22593443;21165568;21378366;21133631;20543983;22730441;22772753;12633858;16344560;16799092;17010968;18759267;19002697;19038362;19160064;19170196;19288272;19386787;19434519;19477952;19483189;19483462;19494002;19556867;19581923;19582878;19609943;19614762;19614763;19620302;19625176;19641024;19679565;19692168;19706615;19716156;19718657;19718715;19759399;19767411;19787257;19801678;19816600;19820694;19828204;19846513;19887621;19893453;19897728;19930645;19948975;20031158;20062060;20062063;20127227;20153318;20209490;20346360;20371787;19965594;20374325;20392844;20021823;21302621;20427576;20629037;20736308;16890161;20187291;18510854;20700465;19960513;20395445;20881564;20819778;20855565;21041450;20835238;20581046;20923773;20940300;20977883;20729193;20610713;19913121;20463894;20605793;20628086;20558341;20835266;21106507;22454521;22824620;20624795;20810358;21373757;21551225;21152401;12753742;17192395;21039037;20411337;20819483;21098633;21109942;20842066;21372166;21430048;21148404;11425855;21693152;21882259;22241747;22277251;22939629;22127416;23300727;23645736;23333919;23335559;21321670;22433870;22547813;22238363;20345844;21514437;21335944;21584795;21585620;21611203;21683457;21789897;21246406;21440420;21473727;21729786;22883991;23267770;23302227;21690289;21609392;21613355;22807396;19595769;21340433;22898083;21471610;21840940;19446582;19931615;20460433;20177058;21804187;21074769;21715681;21822278;21521946;11278759;20646460;21803870;21861625;21951852;21965771;21965789;22502704;21949119;21761200;21873608;21925842;21139048;21890473;21906983;22142403;23482776;20826780;21382479;21416157;22215724;22316086;22528500;22571278;22659071;17803693;21199324;21918362;21976276;22038047;22072235;22075971;22128235;22152020;22194465;22201996;22236542;22287735;22353809;22411794;16107720;21701559;21909981;22041584;22134245;22275353;22323292;22378247;22474125;22484374;22547061;22474227;22748181;18218624;9252391;22513979;23606537;22936677;22952906;23000965;17502619;23139255;23280667;23206456;23383114;23056496;23352616;22240009;23004679;23393366;22370641;23114650;19010547;21704113;22706202;22745744;22564243;22883195;22931092;22693251 857 A9XTE5;C9JKI3;E9PCT5;F8WDM7;Q03135;Q2TNI1;Q59E85;Q7Z4F3 AACC02000001;AB209926;AB451284;AB451416;ABBA01057807;ABBA01057808;AC006159;AF019742;AF070648;AF074993;AF095591;AF095592;AF095593;AF125348;AF172085;AI878826;AJ133269;AK290871;AK307501;AL133639;AMYH01017881;AMYH01017882;AY762103;BC006432;BC009685;BC082246;BG170208;BT007143;CH236947;CH471070;DA477166;DA943080;DB266251;EF179102;EF649773;EF649774;NG_012051;NM_001172895;NM_001172896;NM_001172897;NM_001753;Z18951 AAB82538;AAD23745;AAD34722;AAH09685;AAH82246;AAP35807;AAQ13608;AAX07830;ABM81573;ABM84753;ABW03274;ABW22625;ABW22626;BAD93163;BAF83560;BAG70098;BAG70230;CAA79476;CAB63654;CAL38555;EAL24360;EAW83503;EAW83504;EAW83505;NP_001166366;NP_001166367;NP_001166368;NP_001744;Q03135 Hs.74034 1671217;1690408;1799182;1800390;1801348;1803036;1803748;1806926;1808082;1808220;1808428;1808580;1808582;1808642;1808720;1808794;1809948;1811358;1811430;1811506;1811916;1812496;1814404;1814828;1814902;1823388;1824700;1825178;1825968;1826652;1826654;1826758;1827456;1828746;1831856;1833728;1834532;1834602;1834768;1835244;1835606;1836806;1837692;1840508;1840994;1842022;1843132;1991580;1991582;1991584;1991586;1991588;1991590;1991592;1991594;1991596;1991598;1991600;1991602;1991604;1991606;1991608;1991610;1991612;1991614;1991616;1991618;1991620;1991622;1991624;1991626;1991628;1991630;1991632;1991634;1991636;1991638;1991640;1991642;1991644;1991646;1991648;1991650;1991652;1991654;1991656;1991658;1991660;1991662;1991664;1991666;1991668;1991670;1991672;1991674;1991676;1991678;1991680;1991682;1991684;1991686;1991688;1991690;1991692;1991694;1991696;1991698;1991700;1991702;1991704;1991706;1991708;1991710;1991712;1991714;1991716;1991718;1991720;1991722;1991724;1991726;1991728;1991730;1991732;1991734;1991736;1991738;1991740;1991742;1991744;1991746;1991748;1991750;1991752;1991754;1991756;1991758;1991760;1991762;1991764;1991766;1991768;1991770;1991772;1991774;1991776;1991778;1991780;1991782;1991784;1991786;1991788;1991790;1991792;1991794;1991796;1991798;1991800;1991802;1991804;1991806;1991808;1991810;1991812;1991814;1991816;1991818;1991820;1991822;1991824;1991826;1991828;1991830;1991832;1991834;1991836;1991838;1991840;1991842;1991844;1991846;1991848;1991850;1991852;1991854;1991856;1991858;1991860;1991862;1991864;1991866;1991868;1991870;2093256;2093258;2093260;2093262;2093264;2093266;2093268;2093270;2093272;2093274;2093276;2093278;2093280;2093282;2093284;2093286;2093288;2093290;2093292;2093294;2093296;2093298;2093300;2093302;2093304;2093306;2093308;2093310;2093312;2129974;2142771;2156196 D7S2756;D7S2864;ECD00439;ECD01055;ECD01546;ECD02409;ECD02781;ECD04428;ECD05019;ECD05091;ECD05195;ECD05272;ECD05273;ECD05303;ECD05342;ECD05380;ECD05966;ECD06677;ECD06713;ECD06753;ECD06962;ECD07255;ECD08231;ECD08445;ECD08482;ECD12784;ECD13448;ECD13690;ECD14093;ECD14440;ECD14441;ECD14493;ECD14844;ECD15500;ECD17066;ECD18009;ECD18414;ECD18449;ECD18532;ECD18777;ECD18959;ECD19567;ECD20013;ECD21441;ECD21690;ECD22214;ECD22774;REN66695;REN66696;REN66697;REN66698;REN66699;REN66700;REN66701;REN66702;REN66703;REN66704;REN66705;REN66706;REN66707;REN66708;REN66709;REN66710;REN66711;REN66712;REN66713;REN66714;REN66715;REN66716;REN66717;REN66718;REN66719;REN66720;REN66721;REN66722;REN66723;REN66724;REN66725;REN66726;REN66727;REN66728;REN66729;REN66730;REN66731;REN66732;REN66733;REN66734;REN66735;REN66736;REN66737;REN66738;REN66739;REN66740;REN66741;REN66742;REN66743;REN66744;REN66745;REN66746;REN66747;REN66748;REN66749;REN66750;REN66751;REN66752;REN66753;REN66754;REN66755;REN66756;REN66757;REN66758;REN66759;REN66760;REN66761;REN66762;REN66763;REN66764;REN66765;REN66766;REN66767;REN66768;REN66769;REN66770;REN66771;REN66772;REN66773;REN66774;REN66775;REN66776;REN66777;REN66778;REN66779;REN66780;REN66781;REN66782;REN66783;REN66784;REN66785;REN66786;REN66787;REN66788;REN66789;REN66790;REN66791;REN66792;REN66793;REN66794;REN66795;REN66796;REN66797;REN66798;REN66799;REN66800;REN66801;REN66802;REN66803;REN66804;REN66805;REN66806;REN66807;REN66808;REN66809;REN66810;REN66811;REN66812;REN66813;REN66814;REN66815;REN66816;REN66817;REN66818;REN66819;REN66820;REN66821;REN66822;REN66823;REN66824;REN66825;REN66826;REN66827;REN66828;REN66829;REN66830;REN66831;REN66832;REN66833;REN66834;REN66835;REN66836;REN66837;REN66838;REN66839;REN66840;RH11008;RH69535;RH91504;stSG597962;stSG597964;stSG597965;stSG597966;stSG597967;stSG597968;stSG597969;stSG597970;stSG597971;stSG597972;stSG597973;stSG597974;stSG597975;stSG597976;stSG597977;stSG597978;stSG597979;stSG597980;stSG597981;stSG597982;stSG597983;stSG597984;stSG597985;stSG597986;stSG597987;stSG597988;stSG597989;stSG597990;stSG597991 BSCL3;CAV;CGL3;MSTP085;PPH3;VIP21 OTTHUMP00000025031;OTTHUMP00000195988;OTTHUMP00000195989;OTTHUMP00000196475;OTTHUMP00000198308;caveolin-1;cell growth-inhibiting protein 32 APPROVED protein-coding ENSG00000105974 1527 03028 601047;612526;615343 REVIEWED 1321764 CBLL1 Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011] 7 7 7 q22.3 102191387 102209180 + 107171822 107187265 + 107384279 107402083 + 737633;6480464 12477932 16344560;15342556;15146197;15009096;14996930;12853948;11944035;11836526;16336960;19535458;20379614;20608937;21191016;21685945;21283129;22252131;19711372;22715382;15161933;18057010;23285092 79872 B4DDV7;B7ZM03;C9J2P9;C9K074;F8WEM5;Q75N03 AACC02000004;ABBA01057904;AC002467;AK026762;AK293352;AK307992;AMYH01017831;BC027460;BC130529;BC130531;BC144176;BP201841;BP280978;BX348716;CH236947;CH471070;CN274642;CN291556;DB174309;NM_024814;NR_024199 AAH27460;AAI30530;AAI30532;AAI44177;AAS07390;ADR83027;BAB15544;BAG56868;EAW83416;EAW83417;NP_079090;Q75N03 Hs.592271 2114190;2143913 D7S756;STS-N34389 FLJ23109;HAKAI;MGC163401;MGC163403;RNF188 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1;Casitas B-lineage lymphoma-like;E-cadherin binding protein E7;E3 ubiquitin-protein ligase Hakai;OTTHUMP00000206719;OTTHUMP00000206720;OTTHUMP00000206722;OTTHUMP00000206724;RING finger protein 188;c-Cbl-like protein 1;casitas B-lineage lymphoma-transforming sequence-like protein 1 APPROVED protein-coding 21225 07590 606872 VALIDATED 1343800 CBLN3 cerebellin 3 precursor Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009] 14 14 14 q12 4760374 4763367 - 23965578 23968571 - 24895738 24898731 - 6480464 17030622;15340161;12975309;10964938;20686565 643866 G3V2Y8;Q6UW01 ABBA01061345;AL132800;AMYH01005612;AY359070;CD368047;NM_001039771 AAQ89429;NP_001034860;Q6UW01 Hs.207603 1777306;2186765 RH11211;WI-18521 PRO1486 OTTHUMP00000245805;cerebellin-3 APPROVED protein-coding ENSG00000139899 20146 612978 VALIDATED 1345184 CBL Cbl proto-oncogene, E3 ubiquitin protein ligase This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012] 11 11 q23.3 118582200 118684069 + 119076986 119178859 + 1580863;2299174;2317988;6480464;6484113;6907045;7240710 18175071;16829981 11891219;2030914;12218189;12593796;16407834;15465819;8621719;11823423;14505571;10567358;11894095;15475003;15962011;19401194;19387008;19268472;19258424;19201892;9174058;17995934;18519587;9918857;12935897;9223670;11152963;11071869;10907644;9820532;9344843;9092574;12559036;8798643;11331248;10477741;7629518;9846481;11896602;8641358;9234717;7721825;12727845;10540342;8621483;11313921;15735736;15128873;15001553;14738146;14702039;12881521;12815057;12802274;12696071;12522270;12504111;12496371;12486104;12477932;12475393;12435267;12244174;12234920;12177062;12176909;12149655;12135478;12061819;12024036;11997497;11997436;11994282;11964172;11904433;11894096;11847211;11826757;11741956;11713248;11696592;11687594;11494134;11278816;11263968;11239464;11149930;11133830;11067845;11053437;11032556;11024037;11001060;10966114;10635327;10608804;10570290;10531381;19144635;19074904;19002168;18792408;18660489;18632619;18508924;18505781;18374639;18316398;18273061;18235045;18070883;18048363;18045238;17804547;17702744;17675501;17675467;17635922;17620338;17475912;17372230;17237826;17094949;17082185;17003487;16964243;16955467;16735510;16503409;16289966;16246327;16228008;16094384;15951569;15878338;15872089;15824310;15728256;15708858;15635092;15592455;15337528;15273720;15210722;15190072;15159412;15135048;15782196;10514377;10449770;10427990;10374881;10204582;10092522;10078535;10074432;10068674;9989826;9857068;9712732;9675877;9622055;9603468;9590251;9535867;9489702;9447983;9407100;9367879;9200440;9178909;9162067;9108392;8810341;8780698;8702998;8663231;8662998;8635998;8083187;7881408;7657591;7629144;7603564;2013228;1565471;15892963;16356860;17679095;17974561;17971399;10086340;9872323;9461587;20619386;10799548;11157475;11406619;11443118;11777909;119942;12193575;12226085;12618476;12637493;12649282;15031295;15324660;15677445;15958209;16219545;16467851;16729043;16914641;16969069;17141222;17255943;17353186;17486068;17545148;19081591;19167335;19276253;19457607;19546888;19571318;19620960;19635790;19689429;19861161;19892728;19901108;19932172;20008299;20086179;20126411;20130058;20189481;20195608;20357823;20379614;20416077;5668240;7517397;7642581;8063801;82;8695851;8950973;8978305;8995445;9045636;9178769;9233773;9716598;9890970;16751776;16105874;16327786;16397241;16740632;20936779;20595524;15107835;15123609;15282549;15315962;15456872;17709377;20543203;15577829;15668240;15737992;18029348;20880116;21048031;20940296;20525683;20678218;20694012;20622007;20877636;21163258;11742985;21098288;21118980;12593795;12604776;12734385;12839496;20029031;20671051;10347229;10428778;11850825;11983899;20717917;21242968;21372129;15657067;21203488;22623369;22834886;22905207;22315494;22929312;23105109;23153581;23158001;23175185;23376399;11087752;11353765;18034775;21436637;19236749;21346257;21422499;17242169;20237427;21768087;20100865;20696396;21645455;10854852;14627991;21904853;22262855;21494262;21222362;23010802;19155296;22974441;21175263;21596750;19225046;19450681;20124286;18062779;20404156;21570973;21772844;15208330;21995445;22203672;19880507;20038312;20461437;20479273;19341794;19531499;19713535;20675402;21967979;22158968;21464131;10679202;12672817;12771190;12874286;14596919;15090612;15707590;16849543;17306257;19417776;19531213;21712076;21830225;21949687;23127761;22558309;22591401;16636290;16893902;20562913;21706016;22623428;23025505;23290524;23418353;23457600;15837792;22131879;10025673;10372803;10521482;10570266;10629042;10684856;10779765;10826882;10829062;10962563;11030146;11042121;11370743;11418612;11697890;11788601;11944898;12147253;12393469;12527895;12941616;15062086;15094368;15117950;15383614;15536084;16429130;16623714;16923119;17063465;17094785;17182860;17255109;17330819;17395426;17548467;17620296;17880946;17944804;18193084;18539136;19433454;19578043;19823681;19836242;19966856;22072526;22310290;22509030;22588125;22591685;22706086;22833562;7545163;7791764;8626404;8896416;8920860;8941725;8943292;9129019;9130710;9160881;9311917;9408950;9414268;9434624;9756944;9851874;9890943;21988239;22138511;22139419;22262777;22266821;18654987;22467879;23352614;10617633;11262396;11399323;12496419;15556646;17188587;18974118;22493164;7537740;7592693;8626543;8695807;8995243;9119889;9195915;9632690;10620516;10657627;11408594;12803489;14725908;16135792;16600665;18596201;19190244;20011623;22246246;22301280;7782294;8524328;8612729;8649804;8683103;8824292;8900205;9092538;9259313;9416834;9988730;9988765;10358153;10648820;10918571;10967110;12231245;14530346;14604282;15004239;15358160;15736970;16107303;16479008;16906159;16938345;17072306;18271526;18835194;19380743;19915061;20439986;21394196;22394513;22505724;8995358;9242692;9541596;9617486 867 P22681 AA806454;ABBA01039674;ABBA01039675;ABBA01039676;AK092300;AL832396;AMYH01004080;AMYH01004081;AP002956;BC132733;BC136463;BG722940;BX648139;CH471065;DB457271;NG_016808;NM_005188;X57110;X69207 AAI32734;AAI36464;CAA40393;EAW67476;NP_005179;P22681 Hs.504096 1646793;1686062;1699858;1721987;1742619;1768828;1794950;2111350;2143464;2157499;2218344;5014734;5123718;7185531 CBL;CBL_4518;D11S1941E;G15959;G59879;GDB:198117;PMC86017P1;RH103536;RH47875;RH93709;STS-X57110;WI-14589;WI-8978 C-CBL;CBL2;FRA11B;NSLL;RNF55 Cas-Br-M (murine) ecotropic retroviral transforming sequence;E3 ubiquitin-protein ligase CBL;OTTHUMP00000232087;RING finger protein 55;casitas B-lineage lymphoma proto-oncogene;fragile site, folic acid type, rare, fra(11)(q23.3);oncogene CBL2;proto-oncogene c-Cbl;signal transduction protein CBL APPROVED protein-coding ENSG00000110395 1541 01320 165360;600651;613563 REVIEWED 1320589 CBFB core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q22.1 65620551 65692462 + 67063050 67134961 + 1599543;6480464;7240710 8351518 10856244;12217689;9751756;19179469;19156145;18695000;17571080;17379770;17287858;16767164;16504290;16502584;15585652;15489334;15386419;15138260;12495904;12477932;12434156;12239155;11276260;10958941;10914550;10536006;10404215;9447981;9264408;9191054;8889549;8889548;7622058;7587111;16169070;15243141;9751710;20306249;20607802;17431401;19453261;20195544;20306685;20433876;11742995;20591170;20225274;19603346;14729951;22498736;22012064;22205746;21139048;22190036;22190037;22193545;19322201;22479405;20963938;20195357;21150319;15331439;23160462;23175372;23098073;22053931;22190034;22505724;22725134;23152542 865 H3BSC0;J3KRT0;J3KS23;J3KTD8;Q13951 AA020956;ABBA01025426;ABBA01025427;ABBA01025428;AC009084;AC074143;AF294326;AK290462;AK291834;AK311084;AK311724;AMYH01007745;BC018509;BM679848;BT006862;CH471092;L20298;NG_009281;NM_001755;NM_022845 AAA02868;AAG01553;AAH18509;AAP35508;ABM84645;ABM92175;BAF83151;BAF84523;EAW83066;EAW83067;EAW83068;EAW83069;EAW83070;EAW83071;NP_001746;NP_074036;Q13951 Hs.460988 1644873;2106971;2148180;5017526 CBFB;CBFB_7757;RH67901;RH78908 PEBP2B CBF-beta;OTTHUMP00000174817;PEA2-beta;PEBP2-beta;SL3-3 enhancer factor 1 beta subunit;SL3-3 enhancer factor 1 subunit beta;SL3/AKV core-binding factor beta subunit;core-binding factor subunit beta;polyomavirus enhancer binding protein 2, beta subunit;polyomavirus enhancer-binding protein 2 beta subunit APPROVED protein-coding ENSG00000067955 1539 00418 121360;601626 REVIEWED 1316966 CBLC Cbl proto-oncogene C, E3 ubiquitin protein ligase This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 q13.2 49972988 49995731 + 45281126 45303903 + 1580863;6480464;6907045 10571044;10086340;10362357;14661060;12024036;15302935;15117950;12711395;12477932;12244174;12234920;12226085;12177062;10737800;9988270;9824625;22888118;20525694;19549727;21988832;23105109;23145173;21900206;22315494;21906983;18753381;22493164 23624 Q9ULV8 AB028645;ABBA01040884;ABBA01040885;AC092066;AF117646;AF117647;AMYH01009842;BC028915;BF835530;CH471126;NM_001130852;NM_012116 AAD34341;AAD34342;AAH28915;ABM82169;ABM85419;BAA86298;EAW57292;EAW57293;NP_001124324;NP_036248;Q9ULV8 Hs.466907 5024161 RH48807 CBL-3;CBL-SL;RNF57 Cas-Br-M (murine) ecotropic retroviral transforming sequence c;Cas-Br-M (murine) ectropic retroviral transforming sequence c;OTTHUMP00000198327;OTTHUMP00000198328;RING finger protein 57;SH3-binding protein CBL-3;SH3-binding protein CBL-C;signal transduction protein CBL-C APPROVED protein-coding ENSG00000142273 15961 09765 608453 REVIEWED 5687877 CBR3-AS1 CBR3 antisense RNA 1 21 37504065 37528606 - 12477932;22264502;9740676 100506428 AB004851;ABBA01057384;AL542398;AMYH01012225;AP000689;BC037580;BC038671;BC047014;BI836686;NR_038892;NR_038893;NR_038894 Hs.651214 1663161;2124073;2154678;5014019;5014740;5015861;5016478;5020948;5022578;5022651;5037552;5093108;7185938 A009G10;D10S16;D11S2921;D17S610;D1S1423;D5S2354;D8S2279;G32524;G35510;GDB:434012;SHGC-87614;SHGC-87616 PlncRNA-1 APPROVED miscrna ENSG00000236830 43664 VALIDATED 1348062 CBLN1 cerebellin 1 precursor This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008] 16 16 16 q12.1 33823798 33827712 - 47870196 47873193 - 49311828 49315742 - 1580863;6480464 1704129;15489334;12477932;10688962;10022429;7877445;2760624;10964938;15146197;17030622;20200953;22117778 869 H3BQD0;P23435 ABBA01000896;AC007614;AI147523;AK314276;AMYH01007653;BC093692;BC093718;CH471092;CN281334;M58583;NM_004352;R50764 AAA35676;AAH93692;AAH93718;BAG36936;EAW82731;NP_004343;P23435 Hs.458423 1649859;1658512;1663922;1774671;2107915;2165697;2171051;5492296 CBLN1_8243;Cbln1;D16S2661;D16S2966;G15895;RH69147;SHGC-60729;SHGC-60807 OTTHUMP00000164195;cerebellin-1;precerebellin APPROVED protein-coding ENSG00000102924 1543 02697 600432 VALIDATED 1320203 CBLN2 cerebellin 2 precursor 18 18 18 q22.3 67055763 67063568 - 68354895 68362542 - 70203915 70211723 - 6480464 22569225;19010793;15489334;14702039;12975309;12477932;7877445;17030622;22117778;23502781 147381 J3KST0;J3QS23;Q8IUK8 ABBA01056307;AC011208;AK125422;AK291364;AMYH01009091;AY359074;BC035789;BC110843;BX409761;CH471117;CS208023;HB867208;NM_182511 AAH35789;AAQ89433;BAF84053;CAJ44937;CBF57590;EAW66527;EAW66528;EAW66529;NP_872317;Q8IUK8 Hs.569851 1646599;2181476 D18S1269;RH15985 OTTHUMP00000163726;cerebellin-2 protein-coding ENSG00000141668 1544 15970 600433 VALIDATED 733798 CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase 3 3 q13.11 106859799 107070577 - 105377109 105587887 - 625457;1580863;2314039;2314040;2314037;2314038;2306289;2314041;6480464;6907045 12118252;17209142;15629882;18201552;17601987;16984225;14961073 7784085;18316398;17475912;17235393;17081983;16868939;16525057;16503409;16459459;16189514;15922296;15489334;15315962;15273720;15231748;14702039;14604964;12935897;12907674;12880961;12771181;12697763;12477932;12218189;12177062;12093870;11857085;11826757;11406619;11375397;11087752;11053437;10086340;10074432;10022120;9614102;9399639;8889548;16729043;11526404;21453975;16734387;20936779;12577067;19506219;19546888;19834503;20237496;20395198;20400514;20453840;18029348;21037273;16702950;21248249;23145173;21346257;21558139;21645455;10635327;21768087;21807564;19531499;21900206;19815501;19880507;20038312;12874286;16228008;17020880;17255943;19531213;20467438;21706016;23280105;22158902;16002993;20639876;17330819;18539136;17878343;18596201;19190244;19285159;22447040;22884570;22194214;23039885;16007098;18271526;19380743;19915061;22505724 868 B3KSS7;B5MC15;C9JRB3;C9JU85;E7ENW2;E9PHA9;F5H4J9;Q13191;Q68CY2 AA251219;AB075490;ABBA01061727;ABBA01061728;AC016138;AC112485;AC126185;AK094184;AK123147;AK130668;AK292792;AK302533;AK302892;AK316276;AMYH01013372;BC032851;BC065915;BQ188745;BX537484;BX649066;CH471052;CR749655;DQ349203;DQ349204;NM_170662;R78694;U26710;U26711;U26712 AAB09291;AAB09292;AAB09293;AAH32851;ABC86700;ABC86701;ABM85378;ABW03717;BAE45748;BAF85481;BAG52839;BAG53874;BAG63805;BAG64066;BAH14647;CAH18449;CAH56175;EAW79751;EAW79752;EAW79753;EAW79754;NP_733762;Q13191 Hs.430589 1646100;1649466;1730379;1747791;2107913;2129900;2145362;2147674;2169339;2178288;7187048 1232;A003P06;CBLB_8242;D3S1333E;D3S3959;D3S4235;G66779;SHGC-35478;SHGC-77171;SHGC-77174 Cbl-b;DKFZp686J10223;DKFZp779A0729;DKFZp779F1443;FLJ36865;FLJ41152;Nbla00127;RNF56 Cas-Br-M (murine) ecotropic retroviral transforming sequence b;Cas-Br-M (murine) ectropic retroviral transforming sequence b;E3 ubiquitin-protein ligase CBL-B;OTTHUMP00000198145;OTTHUMP00000198146;OTTHUMP00000198147;RING finger protein 56;SH3-binding protein CBL-B;casitas B-lineage lymphoma proto-oncogene b;signal transduction protein CBL-B APPROVED protein-coding ENSG00000114423 1542 05136 604491 VALIDATED 1346675 CBLN4 cerebellin 4 precursor This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012] 20 20 20 q13 51311804 51319320 - 54005903 54013419 - 54572413 54580528 - 6480464 15489334;15340161;12975309;12477932;11780052;17030622;17207965;16344560;17331201;18278437;19212655;21356198;21410790;22191730;22220752 140689 Q9NTU7 ABBA01052888;AK289640;AL117383;AMYH01012004;AY358527;BC047076;BC050026;BC069402;BC069488;BC069516;CD244520;CH471077;DA137489;DA391781;NM_080617 AAH50026;AAH69402;AAH69488;AAH69516;AAQ88891;ADQ32927;BAF82329;EAW75567;NP_542184;Q9NTU7 Hs.126141;Hs.741877 2218342 CBLNL1_4519 CBLNL1 OTTHUMP00000031325;cerebellin precursor-like 1;cerebellin-4;cerebellin-like glycoprotein 1 APPROVED protein-coding ENSG00000054803 16231 16685 615029 REVIEWED 1320224 CBR3 carbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008] 21 21 q22.2 36429133 36440730 + 37507263 37518860 + 1580863;2316291;6480464;6907045 19088887 9740676;19027726;19016765;18676680;18551042;18493841;18457324;15537833;15489334;12477932;11592776;10830953;9503011;8125298;7705364;16169070;10728668;21145461;18029348;20734064;19170196;19590938;19615732;19625176;19671875;19692168;19841672;20806931;23314748;21256830;20494980;22360420;22425771;22001310;22527884;21890473;22124095;23182048;22504420;21853274 874 O75828;Q53F60 AB003151;AB004850;AB004854;AB041012;AB124847;ABBA01057384;AJ000096;AK223429;AMYH01012225;AP000689;AP001725;BC002812;CH471079;CR541709;EF462915;NM_001236 AAH02812;ABO43035;ADZ15887;BAA33500;BAA34207;BAA89425;BAA95547;BAD74062;BAD97149;BAE45939;CAA03921;CAG46510;EAX09747;NP_001227;O75828 Hs.154510 2154678 SHGC-87616 SDR21C2;hCBR3 NADPH-dependent carbonyl reductase 3;OTTHUMP00000109012;carbonyl reductase (NADPH) 3;carbonyl reductase [NADPH] 3;short chain dehydrogenase/reductase family 21C, member 2 APPROVED protein-coding ENSG00000159231 1549 07222 603608 REVIEWED 737546 CBR1 carbonyl reductase 1 Carbonyl reductase is one of several monomeric, NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds. This enzyme is widely distributed in human tissues. Another carbonyl reductase gene, CRB3, lies close to this gene on chromosome 21q. [provided by RefSeq, Jul 2008] 21 21 q22.13 36364155 36367332 + 37442285 37445462 + 1580863;1300048;2302233;6480464;6907045 18452227 9740676;17353931;19027726;19022938;19016765;18826943;18676680;18551042;18493841;17697149;17569794;17344335;15489334;12836057;12477932;12123751;11771743;11306092;10830953;10091578;8432528;8421682;7705364;7005231;3311025;3141401;3083821;2182121;1921984;1540623;1453004;16169070;18449627;19170196;19204081;19625176;19692168;19841672;20471030;21145461;20029029;20562859;21256830;23247010;23295225;19135240;19442656;22542806;20972266;21139048;21890473;21906983;22178446;22360420;21320693;22234250;22145905;22124095;22562609;23133646;23314748;21853274 873 A8MTM1;B4DFK7;E9PQ63;P16152 AB003151;AB124848;ABBA01057382;AK294142;AK308691;AK311219;AK314879;AL548852;AMYH01012223;AP000688;AP001724;BC002511;BC015640;BT019843;CH471079;CR541708;EF141836;J04056;M62420;NM_001757 AAA17881;AAA52070;AAH02511;AAH15640;AAV38646;ABK97430;ABM83279;ABM86485;BAA33498;BAA95508;BAE45940;BAG37394;BAG57468;CAG46509;EAX09752;EAX09753;EAX09754;EAX09755;NP_001748;P16152 Hs.88778 1683084;1741803;1797350;2148329;2164298 CBR1_1984;GDB:185176;RH17586;RH91556;SHGC-52102 CBR;SDR21C1;hCBR1 15-hydroxyprostaglandin dehydrogenase;NADPH-dependent carbonyl reductase 1;OTTHUMP00000109013;carbonyl reductase (NADPH) 1;carbonyl reductase [NADPH] 1;prostaglandin 9-ketoreductase;prostaglandin-E(2) 9-reductase;short chain dehydrogenase/reductase family 21C, member 1 APPROVED protein-coding ENSG00000159228 1548 00267 114830 REVIEWED 1346367 CBWD4P COBW domain containing 4 pseudogene 9 q13 70181086 70214885 - 12421752 445572;653510 AL512605;NG_027949 pseudo 18520 INFERRED 1602997 CBR4 carbonyl reductase 4 4 4 4 q32.3 167240084 167262804 - 170145316 170167997 - 169908741 169931468 - 6480464 19027726;19000905;14702039;12477932;20877624;17207965;16344560;19571038;21890473;19322201 84869 D6RAV8;D6RGF2;D6RJF4;H0Y962;Q8N4T8 ABBA01070334;ABBA01070335;AC021151;AK027337;AK291756;AL049442;AL833393;AMYH01014699;AV704400;BC021973;BC033650;BG119539;BQ230058;CH471056;DA217727;HB874579;HC931988;NM_032783;W70279 AAH21973;AAH33650;ADQ31575;BAB55045;BAF84445;CAH10582;CBF61666;CBU86558;EAX04797;EAX04798;NP_116172;Q8N4T8 Hs.659311 1701298;1714531;2142789;2145811;5094862 CBR4;D4S998;RH104278;RH119778;SHGC4-1617 FLJ14431;SDR45C1 3-oxoacyl-[acyl-carrier-protein] reductase;OTTHUMP00000219586;OTTHUMP00000219599;OTTHUMP00000219638;carbonic reductase 4;carbonyl reductase family member 4;quinone reductase CBR4;short chain dehydrogenase/reductase family 45C, member 1 protein-coding ENSG00000145439 25891 07859 VALIDATED 1352030 CBWD2 COBW domain containing 2 2 2 q13 113911853 113970216 + 114195268 114253781 + 6480464 19615732;21145461;17353931;16344560;15233989;12477932;12421752;8125298;16169070;21906983;22505724 150472 C9J3G2;F8WEG4;F8WEU0;F8WFD0;Q8IUF1 AC016745;AF452722;AK124867;AK225251;AK290072;AK303653;AL078621;AMYH01010967;AY343910;BC120991;BC120992;DA296279;HH771664;NM_172003 AAI20992;AAI20993;AAN64907;AAQ76868;BAC85973;BAF82761;BAH14006;CBX86534;NP_742000;Q8IUF1 Hs.531330 5016775;5113384;5121664;5124325;5124454;5124593 G19715;RH64865;RH65287;RH66853;RH68216;RH68370 COBW domain-containing protein 2;OTTHUMP00000162049;cobalamin synthase W domain-containing protein 2;cobalamin synthetase W domain-containing protein 2 protein-coding ENSG00000136682 17907 16687 611079 VALIDATED 1343748 CBWD3 COBW domain containing 3 9 9 q13 70046659 70104752 + 70856839 70914932 + 16341674;15233989;12477932;12421752;21890473;21906983;22505724 445571 B4DNG9;Q5JTY0;Q5JTY1;Q5JTY2;Q5JTY5;Q5RIB1;Q5RIB2;Q6VB91;R4GN30 AK297912;AL353608;AMYH01021349;AY344633;BM786305;BU622154;FQ976557;HH772028;NM_201453 AAI72342;AAQ76870;BAG60231;CBX86716;NP_958861;Q5JTY5 Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ60409;bA561O23.1 COBW domain-containing protein 3;OTTHUMP00000021409;OTTHUMP00000021410;cobalamin synthase W domain-containing protein 3;cobalamin synthetase W domain-containing protein 3 protein-coding 18519 611080 VALIDATED 1625817 CBWD7 COBW domain containing 7 9 9 p12 42658218 42705357 + 42670994 42714961 + 14702039;9847074;21906983 728013 A6NM15;E9PFE9;H0Y5V3;H0Y601 AC129778;XM_001717050 A6NM15;XP_001717102 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 FLJ40320 COBW domain containing 7;OTTHUMP00000070163;OTTHUMP00000070164;OTTHUMP00000070165;putative COBW domain-containing protein 7;putative cobalamin synthase W domain-containing protein 7 protein-coding ENSG00000215126 31977 MODEL 4107204 CBX1P2 chromobox homolog 1 pseudogene 2 X X p22 21237119 21239259 - 17116503 17118641 - 100147811 ABBA01071511;AL732371;AMYH01022117;NG_007618;NG_012557 pseudo 38656 INFERRED 1348830 CBWD1 COBW domain containing 1 9 9 p24.3 111038 169075 - 121038 179075 - 6480464 17353931;15489334;15233989;15164053;12477932;12421752;11489251;10931946;10867487;17207965;21906983;22505724;22797925 55871 C9JGY1;F2Z2T4;F2Z3H7;Q7Z652 AF212253;AF257330;AK290648;AK297292;AK315855;AL356244;AL449043;AMYH01019173;AY295766;AY320414;AY343911;BC005996;BC009573;BC013432;BC037212;BC132759;BU621970;HH772046;HH772086;HH772092;NM_001145355;NM_001145356;NM_018491 AAF68990;AAH05996;AAH09573;AAH13432;AAI32760;AAK14935;AAP73813;AAQ76869;ADQ32099;ADR83148;ADZ15344;BAF83337;BAF98746;BAH12539;CBX86725;CBX86745;CBX86748;NP_001138827;NP_001138828;NP_060961;Q9BRT8 Hs.531330;Hs.567539;Hs.645337 5016775;5113384;5121664;5124454 G19715;RH65287;RH66853;RH68216 COBP COBP;COBW domain-containing protein 1;COBW-like protein;NPC-A-6 COBW domain-containing protein 1;OTTHUMP00000020950;OTTHUMP00000020951;OTTHUMP00000020953;cobalamin synthase W domain-containing protein 1;cobalamin synthetase W domain-containing protein 1 protein-coding ENSG00000172785 17134 16686 611078 VALIDATED 4107271 CBX1P1 chromobox homolog 1 pseudogene 1 X X X q11.1 62864393 62866606 - 62434732 62482994 - 62517551 62519764 - 645251 ABBA01066772;AC234780;AL158203;AL365179;AMYH01022491;NG_007614 1689402;1787338 RH93265;SHGC-154811 pseudo 38655 INFERRED 4107291 CBX1P3 chromobox homolog 1 pseudogene 3 1 1 1 q32.1 177058891 177062522 + 202190295 202191531 + 203923526 203927157 + 100128723 ABBA01027462;AC096645;AMYH01001660;NG_007647 pseudo 38657 INFERRED 4107194 CBX1P4 chromobox homolog 1 pseudogene 4 X X X p22.13 21421293 21423494 + 17210589 17211205 + 17300474 17302675 + 100130461 ABBA01071528;ABBA01071529;AL845433;AMYH01022117;NG_007646 pseudo 38658 INFERRED 1348208 CBX1P5 chromobox homolog 1 pseudogene 5 3 3 q26.1 168010328 168012070 + 166528617 166530530 + 100133259 ABBA01058738;AC128686;AMYH01013634;NG_007645;XM_210557 CBX9 APPROVED pseudo 21006 INFERRED 1602602 CBWD6 COBW domain containing 6 9 9 q21.11 68494358 68552413 - 69204538 69262593 - 12477932;21906983;22505724 644019 F5H3X4;H0Y6V8;Q4V338;Q4V339;Q4V340;Q4V342;Q5RIB5 AF293368;AK293173;AMYH01021372;AMYH01021373;AMYH01021374;AMYH01021375;AMYH01021376;BC069006;BX255923;CR627025;HH772008;NM_001085457 AAG10070;BAG56717;CBX86706;NP_001078926;Q4V339 Hs.597638;Hs.645337 5016775;5022578;5095470;5113384;5121664;5124450;5124454 D1S1423;G19715;RH119736;RH12706;RH65287;RH66853;RH68216 DKFZp686L07117;FLJ60409 COBW domain-containing protein 6;OTTHUMP00000069725;OTTHUMP00000069835;cobalamin synthase W domain-containing protein 6;cobalamin synthetase W domain-containing protein 6 protein-coding ENSG00000204790 31978 VALIDATED 2291773 CBX3P1 chromobox homolog 3 pseudogene 1 11 11 11 p14.1 27973976 27976174 + 27784093 27785428 + 27827864 27830105 + 10763413 159770 ABBA01060966;AC103796;AF063304;AMYH01003457;NG_001315 pseudo 33950 INFERRED 5490501 CBX3P3 chromobox homolog 3 pseudogene 3 5 112113340 112113886 - 100421861 ABBA01069053;AC136500;AMYH01015547;NG_024619 pseudo 42875 INFERRED 6481556 CBX3P4 chromobox homolog 3 pseudogene 4 12 2896458 2896748 - 100873792 ABBA01048801;AC005841;AMYH01004181;NG_032536 pseudo 42876 INFERRED 5490499 CBX3P5 chromobox homolog 3 pseudogene 5 12 95680096 95680614 - 100421943 ABBA01053339;AC084879;AMYH01004667;NG_024039;NG_028987 pseudo 42877 INFERRED 5490505 CBX3P6 chromobox homolog 3 pseudogene 6 2 2 q24.1 155505266 155505793 - 155797053 155797579 - 642721 ABBA01004821;AC093112;AMYH01011186;NG_021530 pseudo 42878 INFERRED 5490502 CBX3P8 chromobox homolog 3 pseudogene 8 11 p11.12 49427742 49428266 + 100286965 ABBA01060667;AC135977;AMYH01003570;NG_021817 1847356;2119613;2218128 D11S3987;RH69108;TYR_3880 pseudo 42880 INFERRED 737316 CBS cystathionine-beta-synthase The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] 21 21 q22.3 43346370 43369490 - 44473301 44496472 - 1600622;1600624;1600626;1600627;1359024;1580863;1300048;6480464;6907045;7240710;7242427 7506602;16636197;12855221;12649066;9359866;20162368 21273695;19064578;19048631;19019492;19019335;19010420;18992148;18988749;18977990;18977241;18950795;18936436;18839533;18830263;18818748;18799873;18792976;18785313;18708589;18676680;18636124;18635682;18622257;18620331;18614746;18454451;18447718;18427977;18398434;18278872;18203168;18060852;17993766;17956124;17891500;17726616;17686644;17621169;17601350;17553479;17548676;17540596;17436311;17352495;17327360;17319270;17311260;17311259;17160942;17119116;17087506;17035141;16953589;16941496;16792904;16791140;16709328;16601865;16541333;16505479;16479318;16470595;16422253;16375773;16363792;16328059;16274669;16259797;16205833;16189514;16115349;16013960;9590298;16780588;18029348;19527514;19493349;19429038;19424622;19370759;19267073;19238444;19166826;19161160;19112534;19074437;16007597;15975077;15972722;15922487;15889417;15772012;15755387;15748616;15719048;15554031;15544339;15520012;15503105;15489334;15365998;15354395;15228193;15082224;15009965;14977639;14670973;12889841;12815602;12725044;12642343;12529702;12477932;12439143;12427542;12413583;12393509;12379655;12269827;12228232;12186157;12180146;12173932;12154064;12124992;12082592;12020105;12015064;12007221;11872884;11758232;11748855;11672761;11575217;11528503;11483494;11457468;11434706;11359462;11359213;11341749;11310576;11292330;11204591;11173483;11149614;11074524;11013450;10830953;10791559;10462600;10434301;10408774;10338090;10215408;9889017;9790750;9466992;9383285;9361025;9266356;9156316;8990018;8803779;8755636;8528202;8353501;8022826;7981678;7967489;7903580;7849717;7762555;7635485;7611293;7598711;7564249;2894761;1301198;840498;681363;404147;19019082;22470444;18776696;19170196;19447967;19531479;19559392;19593657;19625176;19657138;19657388;19683694;19692168;19722721;19729796;19737740;19906435;19948975;20031554;20031578;20056620;20066033;20082058;20160465;20217437;20237949;20308073;20346360;20379614;20453000;20458436;7929220;20670920;20638879;20140262;20717043;20737570;20883119;20890573;20939734;20948192;21045269;21055808;20506325;20601281;19913121;20544798;20559280;20565774;20615890;20628086;20634891;20707729;20718043;21062078;20301697;22977242;21104445;20490928;22863883;22985361;22069143;16196087;21520339;21564312;21417705;21957013;21626167;18781797;21886822;21900206;22002135;22118674;21139048;21890473;22484094;22612060;22236648;22333527;22353391;22891245;22253703;21917271;22310774;23117410;23143240;23152928;21319273;23124209;21517828;23718855;23002992;21988832;22512572;23251661;22738154;22665368 875 C9JMA6;F5H2U1;H7C1W6;H7C2H4;H7C2W0;P35520;Q9NTF0 ABBA01004516;ABBA01004517;AF042836;AK294608;AK301063;AK313691;AL137314;AL531222;AMYH01012275;AP001630;BC000440;BC007257;BC010242;BC011381;BC012319;BT007154;CH471079;CQ779398;DC300040;DQ191754;HB891684;HB906392;HB908636;HB919838;HB928571;HB944969;HC949093;HC963801;HC966045;HC977247;HC985980;HD002379;L00972;L14577;L19501;NG_008938;NM_000071;NM_001178008;NM_001178009;X82166;X88562 AAA19874;AAA98524;AAC64683;AAC64684;AAH00440;AAH07257;AAH10242;AAH11381;AAH12319;AAP35818;ABA28318;ABM81955;ABM85134;BAG36440;BAH11822;BAH13401;CAA57656;CAA61252;CAB70691;CAG14912;CBF70474;CBF85738;CBF88264;CBF94917;CBF99203;CBG07230;CBU94756;CBV01862;CBV02957;CBV08437;CBV12723;CBV20752;EAX09507;EAX09508;EAX09509;EAX09510;EAX09511;EAX09512;EAX09513;EAX09514;EAX09515;NP_000062;NP_001171479;NP_001171480;P35520 Hs.533013 1730213;1741799;1742131;2147103;2170314;7186603 D21S271E;GDB:185174;GDB:192314;RH78946;SGC35805 HIP4 OTTHUMP00000109415;OTTHUMP00000109416;OTTHUMP00000109417;OTTHUMP00000109418;beta-thionase;cystathionine beta synthase;cystathionine beta-synthase;methylcysteine synthase;serine sulfhydrase APPROVED protein-coding ENSG00000160200 1550 01994 236200;613381 REVIEWED 5490490 CBX3P7 chromobox homolog 3 pseudogene 7 11 89026912 89027414 - 100421975 ABBA01011523;AMYH01003868;AP000720;NG_024399 1847356;2119613;2190379;7188805 D11S3987;D11S870-D11S1326;RH69108 pseudo 42879 INFERRED 5490504 CBX3P9 chromobox homolog 3 pseudogene 9 6 6 q22.1 116880521 116881515 - 116774180 116774728 - 644101 ABBA01026046;AMYH01016617;NG_022324;Z84488 pseudo 42881 INFERRED 1601812 CBWD5 COBW domain containing 5 9 9 q21.11 69671824 69729991 - 70432004 70490171 - 16344560;14702039;12477932;12421752;10867487;8889548;16169070;21906983;22505724 220869 B4DNG9;E7EUZ7;E9PG27;F2Z3P0;H0Y857;Q5RIA9;Q5RIB0;Q5RIB3;Q5RIB5;Q6NVZ8 AF065414;AF265442;AK092175;AK097639;AK292585;AMYH01021233;AMYH01021234;AMYH01021235;AMYH01021236;AMYH01021237;AMYH01021238;AMYH01021239;AMYH01021240;AMYH01021241;BC043420;BC067803;BC082271;BC141856;BM711778;BX284632;DA288994;DB463072;NM_001024916 AAC17121;AAG44700;AAH43420;AAH67803;AAI41857;BAF85274;NP_001020087;Q5RIA9 Hs.355950;Hs.635227;Hs.645337;Hs.645504 5016775;5113384;5121664;5124450;5124454 G19715;RH12706;RH65287;RH66853;RH68216 DC36;FLJ34856;FLJ40320;FLJ77192;MGC167043;MGC44166 COBW domain-containing protein 5;COBW-like placental protein;OTTHUMP00000015371;OTTHUMP00000015372;OTTHUMP00000215652;OTTHUMP00000215655;cobalamin synthase W domain-containing protein 5;cobalamin synthetase W domain-containing protein 5;dopamine responsive protein protein-coding ENSG00000147996 24584 14134 VALIDATED 4107152 CBX5P1 chromobox homolog 5 pseudogene 1 3 3 p11.1 88898633 88899355 - 88144432 88145154 - 100151661 ABBA01004633;AC119733;AMYH01013325;NG_007668 pseudo 38659 INFERRED 5490471 CBX3P2 chromobox homolog 3 pseudogene 2 18 p11.32 2652169 2655394 - 12477932 645158 Q8WVE2 ABBA01049833;AMYH01008776;AP005061;BC018088;BX328992;NG_031972;NR_033754 AAH18088 Hs.712861;Hs.741607 pseudo ENSG00000266405 42874 VALIDATED 1342823 CBX2 chromobox homolog 2 This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010] 17 17 q25.3 75366588 75375974 + 77751977 77761449 + 1580863;6480464;7240710 19107218;16189514;15146197;12477932;10369680;9641679;7782071;2477932;1352241;22325352;1898775;19060904;2903050;3081265;19361780;19636380;12167701;21282530;23219007;23667531;21047797;21383063;22009739;22419124;22632162 84733 Q14781 ABBA01013830;AC105337;AL157459;AMYH01008684;BC004252;BC119759;BC119760;BX110913;CH471099;CN367085;CN367087;CN367098;CV815254;DB452048;NG_016986;NM_005189;NM_032647;X77824;X77825 AAH04252;AAI19760;AAI19761;AAI56119;AAI57075;ABZ92071;CAA54839;EAW89568;EAW89569;NP_005180;NP_116036;Q14781 Hs.368410 1668021;1683385;1749321;1771246;2110557 MGC10561__7656;RH47739;RH66799;RH93970;SHGC-111083 CDCA6;M33;MGC10561;SRXY5 M33 polycomb-like;Pc class homolog;cell division cycle associated 6;chromobox homolog 2 (Pc class homolog, Drosophila);chromobox protein homolog 2;modifier 3 APPROVED protein-coding ENSG00000173894 1552 14397 602770;613080 REVIEWED 1321782 CBX1 chromobox homolog 1 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 17 17 q21.32 43502420 43533360 - 46147414 46178883 - 6480464 17314413;9169582;11101528;18599480;18590578;18438399;18239689;17575412;17081983;16615912;16547356;16344560;16169070;16127177;15947784;15899859;15635413;15489334;14651845;14585993;12867029;12711675;12560555;12560554;12477932;12414990;12054505;11959914;11882902;11790298;11336697;11242054;11242053;10882726;10747027;10562550;10549285;10460410;10202156;9454751;8287692;12111331;15120635;11793364;21281799;10330177;19486527;19615732;20195544;9636146;20308360;20498703;19661379;19706462;19759913;20935630;15100215;15136563;15145825;15960974;17403666;17962312;16622419;20562864;20682794;21888893;22815475;20923784;20360068;21047797;22178446;23287531;22234250;20231385;21139048;21693764;21890473;21906983;22318730;22606318;22615490;22617335;15200951;20195357;21988832;22949513;23000965;23077635;22505724;22715096 10951 B5MD17;C9JWS9;J3KS05;K7ELA4;P83916;Q6IBN6 ABBA01041153;ABBA01041154;ABBA01041155;AC004477;AC006468;AF106801;AK312615;AMYH01008451;AMYH01008452;BC002609;BC021302;CB053834;CH471109;CR456766;DA020204;DA689514;DA781730;DB026977;NM_001127228;NM_006807;U35451 AAB81548;AAD21972;AAH02609;AAH21302;ABZ92300;BAG35502;CAG33047;EAW94758;EAW94759;EAW94760;EAW94761;NP_001120700;NP_006798;P83916 Hs.77254 2109113 CBX1_9202 CBX;HP1-BETA;HP1Hs-beta;HP1Hsbeta;M31;MOD1;p25beta HP1 beta;HP1 beta homolog;OTTHUMP00000197313;OTTHUMP00000197314;OTTHUMP00000197315;OTTHUMP00000197316;chromobox homolog 1 (HP1 beta homolog Drosophila );chromobox protein homolog 1;heterochromatin protein 1 homolog beta;heterochromatin protein 1-beta;heterochromatin protein p25 beta;modifier 1 protein APPROVED protein-coding ENSG00000108468 1551 05149 604511 REVIEWED 1348844 CBX4 chromobox homolog 4 17 17 q25.3 75421550 75427808 - 77806955 77813213 - 1580863;6480464 9315667;9367786;18567530;18178578;18029348;17081983;17018294;16061479;15710417;15592428;15489334;12679040;12477932;12167701;12101246;11583618;9858600;9858531;9199346;12829790;16169070;14638676;15563468;17439403;21256122;21282530;15231748;17087506;17428788;18453536;19933700;19336002;19454010;19636380;20351170;21549310;21252943;12700765;20361981;21885019;22078878;22325352;16009940;18781797;21288202;19471022;21693764;21906983;22028491;18408014;21145359;22467880;22825850;22889411;22897849;15175327;22797925 8535 F8WCW6;I3L4F1;O00257 ABBA01013826;ABBA01013827;ABBA01013828;AC100791;AF013956;AI796748;AMYH01008687;AMYH01008688;AY390430;BC014967;BG029608;BQ225831;CH471099;EU439707;NM_003655;U94344 AAB62734;AAB80718;AAH14967;AAQ97596;ACA49234;EAW89572;EAW89573;NP_003646;O00257 Hs.743401 1658988 RH78479 NBP16;PC2;hPC2 E3 SUMO-protein ligase CBX4;NS5ATP1-binding protein 16;OTTHUMP00000197308;OTTHUMP00000197309;Pc class 2 homolog;chromobox homolog 4 (Pc class homolog, Drosophila);chromobox protein homolog 4;polycomb 2 homolog APPROVED protein-coding ENSG00000141582 1554 04357 603079 VALIDATED 1605449 CBY3 chibby homolog 3 (Drosophila) 5 5 5 q35.3 174729963 174732379 - 179038183 179040575 - 179105559 179107975 - 6480464 15372022 646019 A6NI87 ABBA01010031;AC136604;AMYH01015957;BX110582;NM_001164444 A6NI87;NP_001157916 Hs.535767 1656257 STS-H08168 OTTHUMP00000223233;protein chibby homolog 3 protein-coding ENSG00000204659 33278 VALIDATED 1352044 CBX3 chromobox homolog 3 At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011] 7 7 p15.2 26207624 26219501 + 26240831 26253227 + 1580863;6480464 9636147;8663349;11101528;11124534;18618731;18239689;18172013;18032920;17575412;17381543;17245432;17081983;16964243;16954381;16945326;16713569;16127177;16083285;15635413;15502821;15489334;15322135;15009096;12690205;12560555;12485163;12477932;12054505;12004135;11959914;11336697;11242053;10664448;10562550;10460410;10330177;9864353;9636146;9454751;9169472;12414990;15120635;11793364;21145461;21252314;17314413;15306854;20176155;19144645;20675861;20936779;17468742;17540172;18029348;19486527;19615732;21888893;22684280;17403666;17962312;21358630;15882967;16061184;16159877;19661379;19690169;19759913;15136563;15145825;21220418;20562864;22863883;22939629;22990118;21865325;14578449;20360068;20695923;21047797;20011120;20923784;21784059;21875947;19471022;20231385;21907836;15200951;18160415;19738201;23000965;23077635;23287531;23829974;19322201;22234250;18781797;21596310;22178446;21139048;21549307;21890473;21906983;21963094;22318730;22325352;22514736;22586326;22615490;22505724;22870217 11335 A4D177;B8ZZ43;C9JMM0;Q13185 AACC02000007;AB030905;ABBA01056745;AC010677;AF136630;AL542267;AMYH01017126;AMYH01017127;BC000954;BC014380;BX647444;BX648807;CD514780;CH236948;CH471073;CV575477;DB565723;NM_007276;NM_016587;U26312 AAB48101;AAF62370;AAH00954;AAH14380;ACE86685;ACE87369;BAA83340;EAL24235;EAW93842;EAW93843;EAW93844;EAW93845;EAW93846;NP_009207;NP_057671;Q13185 Hs.381189 1696692;1735656;1857592;2170890;2184022;5124411 D7S2103E;HSC11F052;RH24974;SHGC-57830;SHGC-83036;STS-H78370 HECH;HP1-GAMMA;HP1Hs-gamma HP1 gamma homolog;OTTHUMP00000122519;OTTHUMP00000122520;OTTHUMP00000202463;chromobox homolog 3 (HP1 gamma homolog, Drosophila);chromobox protein homolog 3;heterochromatin protein 1 homolog gamma;heterochromatin protein HP1 gamma;heterochromatin-like protein 1;modifier 2 protein APPROVED protein-coding ENSG00000122565 1553 05130 604477 REVIEWED 1353483 CBX7 chromobox homolog 7 22 22 q13.1 37856723 37878484 - 39526777 39548538 - 1580863;6480464 18984978;18701502;17374722;15897876;15489334;14647293;12477932;10591208;18686603;19706751;20541999;19636380;20542683;20723236;10369680;16537902;21060834;22041561;22226354;21047797;22214847 23492 B0QYP2;B0QYP3;O95931 ABBA01055551;AL031846;AMYH01012775;BC051773;BC128418;CH471095;DQ064603;NM_175709 AAH51773;AAY68391;ABZ92314;EAW60297;EAW60298;EAW60299;EAW60300;EAW60301;NP_783640;O95931 Hs.356416 2133587;2165405 A003A08;HSC0XA102 OTTHUMP00000197317;OTTHUMP00000197318;OTTHUMP00000197319;chromobox protein homolog 7 protein-coding ENSG00000100307 1557 12234 608457 VALIDATED 1315340 CBX5 chromobox homolog 5 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 12 12 q13.13 52921677 52960151 - 54624730 54673915 - 1580863;6480464 9636146;9636147;9864353;15502821;16177824;8663349;19352502;18809684;18676401;18264112;17470536;17381543;17213182;17101789;16762841;16648629;16487625;16189514;16127177;15899859;15882967;15635413;15489334;15454574;21346195;15342556;15196694;14730304;14702039;14585993;12867029;12711603;12692243;12565857;12560555;12485163;12477932;12414990;12411497;12242305;12154074;12054505;11959914;11942629;11336697;11242054;11242053;11112778;10938122;10882726;10562550;10460410;9454751;9169472;8864858;8505380;12697822;11484059;10549285;15120635;11793364;11799066;11516652;15723802;22205726;20498703;10330177;11313457;17540172;17698499;18029348;19479850;19486527;19498464;19566924;19567367;19617346;19666599;19783980;19880879;20011120;20049717;20110566;20154359;20231385;20421743;15849318;16687578;16751776;16945326;18648073;19661379;15485920;20562864;15306854;21209461;10699177;15145825;23077635;23281010;21364188;21374739;17314413;17403666;17962312;21383955;20080105;16622419;22939629;23028349;20695923;21047797;21900206;20923784;21875947;21888893;22615490;22496453;19471022;21139048;21693764;21890473;21906983;22234250;15200951;17884155;21988832;23000965;23287531;21704408;17081983;22318730;21029866;21199919;22505724;22139419;22922742;23142645;22900142 23468 F8VNY3;P45973 ABBA01008366;ABBA01008367;ABBA01008368;ABBA01008369;AC078778;AF147443;AK023520;AK055641;AK056315;AK095108;AK313506;AMYH01004488;BC006821;BC030149;BC047432;BP236173;BP336150;CH471054;CR457418;DT217255;L07515;NM_001127321;NM_001127322;NM_012117;S62077;U26311 AAA72327;AAB26994;AAC50553;AAH06821;ABZ92153;ABZ92313;BAG36286;CAG33699;EAW96758;EAW96759;EAW96760;NP_001120793;NP_001120794;NP_036249;P45973 Hs.349283 1669118;1670078;1677746;1684200;1686458;1697452;1777604;2140199;2175784;2177575;5014051;5015879;5022200;5022450;5022651;5024761;5037552;5109281;7186698 D10S275;D11S2921;D12S110E;D12S1966;D1S1425;D8S2278;D8S2279;GDB:314949;L18426;RH102227;RH36905;RH64861;RH68193;RH93620;SGC34021;STS-Z40708;WI-12071;WI-15869 HP1;HP1A HP1 alpha;HP1 alpha homolog;HP1-ALPHA;HP1Hs alpha;OTTHUMP00000241878;OTTHUMP00000241879;OTTHUMP00000241880;OTTHUMP00000241881;antigen p25;chromobox homolog 5 (HP1 alpha homolog, Drosophila);chromobox protein homolog 5;heterochromatin protein 1 homolog alpha;heterochromatin protein 1-alpha APPROVED protein-coding ENSG00000094916 1555 05131 604478 REVIEWED 1316437 CBX6 chromobox homolog 6 22 22 22 q13.1 23066901 23074916 - 37590189 37598204 - 39260243 39268258 - 1580863;6480464 15489334;14702039;12477932;10591208;20211142;20972438;15203218;22325352;21047797;21139048;21890473;21906983;19322201 23466 B0QXZ6;O95503 ABBA01055539;AK094829;AK293035;AL008583;AMYH01012769;BC012111;BC064900;CD625491;CH471095;HI574266;NM_014292 AAH12111;AAH64900;ABM84593;ABM86713;BAF85724;BAG52939;CBX47622;EAW60276;NP_055107;O95503 Hs.592201 1784504;2187319 SHGC-144773;STS-R45141 OTTHUMP00000197412;OTTHUMP00000197413;chromobox protein homolog 6 protein-coding ENSG00000183741 1556 13005 VALIDATED 1345009 CCA1 cataract, congenital, cerulean type, 1 7240710 7704021 878 1559 1351003 CBX8 chromobox homolog 8 17 17 17 q25.3 74393725 74396464 - 75382771 75385485 - 77768176 77770915 - 1580863;6480464 20601937;17332741;16169070;15489334;15009096;14702039;12477932;12167701;11439343;11313972;10825164;22325352;18029348;19636380;17936708;20431927;21047797;22094252;19471022;15856011;21282530;23474493;22990118 57332 C9J6K3;C9JM54;Q9HC52 ABBA01013830;AC100791;AF174482;AF266479;AK074560;AMYH01008684;BC008937;BC009376;BC019289;CH471099;NM_020649 AAF76328;AAG09180;AAH08937;AAH09376;AAH19289;ABZ92360;BAC11061;EAW89571;NP_065700;Q9HC52 Hs.387258 1338093;7186736 D20S196;D20S887 HPC3;PC3;RC1 OTTHUMP00000197310;OTTHUMP00000197311;OTTHUMP00000197312;Pc class 3 homolog;chromobox homolog 8 (Pc class homolog, Drosophila);chromobox protein homolog 8;polycomb 3;rectachrome 1 APPROVED protein-coding 15962 13006 VALIDATED 1345688 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) 7240710 7887424 882 1561 1349229 CCAT cataract, congenital 880 1563 7241106 CCAT1 colon cancer associated transcript 1 (non-protein coding) 21547902;23143645;23416875 100507056 ABBA01037941;AC020688;AC027531;AMYH01019012;XR_108886;XR_133500;XR_171750 Hs.343864 2134211 SHGC-34702 miscrna 45128 MODEL 7247298 CCAT2 colon cancer associated transcript 2 (non-protein coding) 23796952 101805488 GQ911591 LINC00873;NCCP1 miscrna 47044 1343969 CBY1 chibby homolog 1 (Drosophila) Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q12 37382604 37399801 + 39052658 39069855 + 1580863;6480464 12712206;15194699;19527514;19435523;19019335;18818748;18663750;18573912;17905836;17403895;16713569;16570344;15489334;15461802;15245581;12529303;12477932;11337467;11230166;10591208;19940019;20096688;15203218;20140262;21182262;22094256;22911743 25776 B0QY53;B0QY54;Q9Y3M2 AB015347;AB111855;ABBA01055529;ABBA01055530;AF331041;AK307265;AK311928;AL021707;AL050345;AL136686;AMYH01012764;AU099418;BC008839;BC016139;BK005534;CD626926;CD702742;CH471095;CR456410;NM_001002880;NM_015373 AAH16139;AAL56062;ADR82759;BAA88119;BAC78839;BAG34869;CAB43547;CAB66621;CAG30296;DAA05582;EAW60254;EAW60255;EAW60256;NP_001002880;NP_056188;Q9Y3M2 Hs.334911;Hs.744261 1670147;2109645 PGEA1_9407;RH41824 C22orf2;CBY;HS508I15A;PGEA1;PIGEA-14;PIGEA14;arb1 ARPP-binding protein;OTTHUMP00000198875;OTTHUMP00000198876;OTTHUMP00000198878;PKD2 interactor, Golgi and endoplasmic reticulum-associated 1;coiled-coil protein PIGEA-14;cytosolic leucine-rich protein;polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa;protein chibby homolog 1 APPROVED protein-coding ENSG00000100211 1307 09676 607757 REVIEWED 2289739 CC2D2A coiled-coil and C2 domain containing 2A This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 4 4 p15.32 15080760 15212278 + 15471489 15603180 + 6480464;7240710 19068953;18950740;18513680;18387594;16344560;14702039;12477932;10718198;21068128;19574260;19777577;20585324;21906983;22023432;22241855;23251661 57545 D6R9V3;H0Y941;Q9P2K1 AA441801;AB037766;ABBA01032570;ABBA01032571;AC007016;AC116651;AI376394;AK023876;AK025543;AK096047;AK309178;AMYH01014021;BC053865;BC061921;BC070395;BC103710;BX647334;CF528984;CH471069;DA860072;DB043556;EU450799;N35522;NG_013035;NM_001080522;NM_001164720;NM_020785 AAI03711;ACC96081;BAA92583;BAB14710;BAG10039;EAW92734;NP_001073991;NP_001158192;NP_065836;Q9P2K1 Hs.590928 1667263;1690916;1698580;1708220;2155400;2160963;2182599;5022322;5037552 D11S2560;D4S310;D8S2279;RH102842;RH92883;SHGC-24584;SHGC-67237;SHGC-79369;WI-22664 JBTS9;KIAA1345;MKS6 OTTHUMP00000217872;OTTHUMP00000217873;OTTHUMP00000217875;OTTHUMP00000217876;OTTHUMP00000217877;OTTHUMP00000217879;OTTHUMP00000217881;coiled-coil and C2 domain-containing protein 2A APPROVED protein-coding ENSG00000048342 29253 216360;612013;612284;612285 REVIEWED 1603884 CC2D1B coiled-coil and C2 domain containing 1B 1 1 1 p32.3 51102961 51118558 - 52588855 52604452 - 52816265 52831877 - 6480464 17084358;17084357;15146197;14702039;12477932;11347906;8889548;19423080;22863883;22779921 200014 H0Y517;H7C1U3;Q5T0F9;R4GMP1 AB058739;ABBA01074775;AK093605;AK095487;AK130874;AL513218;AMYH01000619;BC007912;BC014080;BC016880;BC039308;BM975102;BQ073406;BX337298;CH471059;CN279193;DB458797;NM_032449 AAH07912;AAH16880;AAH39308;BAB47465;BAC85450;EAX06785;EAX06786;EAX06787;EAX06788;EAX06789;NP_115825;Q5T0F9 Hs.591451 1667119;1739879;1854654;2139176;2156012;5022578 A005E48;D1S1423;D1S2354;D1S2512;D1S3534;SHGC-74828 KIAA1836;RP11-155O18.2 FRE under dual repression-binding protein 2;OTTHUMP00000009793;OTTHUMP00000009794;OTTHUMP00000009795;OTTHUMP00000009796;coiled-coil and C2 domain-containing protein 1B;five prime repressor element under dual repression-binding protein 2;freud-2 protein-coding ENSG00000154222 29386 12393 VALIDATED 1345566 CCAR1 cell division cycle and apoptosis regulator 1 10 10 q21.3 70150977 70221315 + 70480971 70551309 + 737633;1580863;6480464 12477932 12226669;18029348;19073175;18722177;18382127;18321953;17513614;17081983;16543231;15489334;15302935;15164054;15069192;14743216;14702039;12816952;17332742;18655026;20562859;16712791;16341674;16385451;19520846;22990118;22905258;20360068;21903591;19471022;21139048;21693764;21890473;22266316;22586326;22365833;23184937;23246001 55749 F5H1H2;F5H1L3;F5H2E6;F5H3E1;F5H3I8;F5H7M9;F5H808;H0YFJ7;H0YFT7;Q5VUP6 ABBA01019587;ABBA01019588;ABBA01019589;ABBA01019590;AF465616;AK000741;AK001701;AK023438;AK122871;AK292649;AK298004;AK299307;AK307550;AK307671;AK307704;AL391539;AL513534;AMYH01002804;AY249140;BC015475;BC026036;BC058846;BC089420;BC108682;BC130626;BC132725;BC144118;BM786237;BM905703;BU181074;BX647943;CB136079;CH471083;HI574014;NM_018237 AAH15475;AAH26036;AAH89420;AAI08683;AAI30627;AAI32726;AAO17319;AAP82002;BAA91354;BAA91847;BAB14574;BAF85338;BAG60310;BAG61320;CBX47496;EAW54300;EAW54301;EAW54302;NP_060707;Q8IX12 Hs.49853 1688300;1769696 D10S1418;RH98330 MGC44628;RP11-437A18.1 OTTHUMP00000019709;OTTHUMP00000236721;OTTHUMP00000236724;OTTHUMP00000236725;cell cycle and apoptosis regulatory protein 1;cell division cycle and apoptosis regulator protein 1;death inducer with SAP domain protein-coding ENSG00000060339 24236 10811 612569 VALIDATED 1606546 CC2D1A coiled-coil and C2 domain containing 1A This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] 19 19 p13.12 13878052 13902692 + 14016956 14041693 + 6480464;7240710 16033914;12761501;18029348;18806297;18662999;17714190;17535813;17394259;17084358;16964243;16344560;15592455;15534042;15489334;14756806;14702039;14569116;12477932;20205790;22406677;21274377;21189260;20529849;16730941;19948489;20171170;22328058;22258254;16051665;20392296;21900206;22023432;22833682;22944692 54862 K7EJY5;K7EMP1;Q6P1N0 AB097002;ABBA01029706;AC020916;AF536205;AK000248;AK023399;AK026371;AK123155;AK315068;AMYH01009516;AMYH01009517;BC006556;BC048345;BC064981;BC113968;BP395853;CH471106;DB065701;NG_013089;NM_017721 AAH48345;AAH64981;AAI13969;AAN04488;BAA91029;BAB14561;BAB15464;BAC77355;EAW84380;NP_060191;Q6P1N0 Hs.269592 1339087;1701390;5014467;5016808;5021872;5022651 D11S2921;D19S840;GDB:313557;RH104325;RH80706;sY3084 FLJ20241;FLJ41160;FREUD-1;Freud-1/Aki1;MRT3 Akt kinase-interacting protein 1;FRE under dual repression-binding protein 1;coiled-coil and C2 domain-containing protein 1A;five prime repressor element under dual repression-binding protein 1;five repressor element under dual repression-binding protein 1;mental retardation, nonsyndromic, autosomal recessive, 3;putative NF-kappa-B-activating protein 023N;putative NFkB activating protein APPROVED protein-coding ENSG00000132024 30237 08616 608443;610055 REVIEWED 1349047 CCBE1 collagen and calcium binding EGF domains 1 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] 18 18 18 q21.32 53815992 54082692 - 55252124 55515570 - 57098171 57364644 - 6480464;7240710 19287381;18519826;18466450;14702039;12975309;12477932;11853319;19911200;19935664;19935792;20379614;21778431;21988832;22239599 147372 K7EQ81;Q6UXH8 AB075863;ABBA01056169;AC010776;AC016229;AC090213;AF087966;AK055243;AMYH01009040;AY358347;BC046645;BF434122;BF515087;BX640826;CH471096;CX782134;EY892390;HC883734;NG_016990;NM_133459 AAH46645;AAQ88713;BAB85569;CAE45902;CBM42919;EAW63100;EAW63101;NP_597716;Q6UXH8 Hs.34333 1700528;1707442;1718315;1730331;1738467;1761379;1774429;1783734;2140304;2146051;5014051;5015861;5016478;5016781;5021872;5022651;5037552;7185938 D10S16;D11S2921;D17S1644E;D18S1003;D8S2278;D8S2279;GDB:434012;RH103885;RH122929;RH16234;SHGC-145395;SHGC-155286;SHGC-34476;SHGC-67307;SHGC-84515;STS-H68552;sY3084 FLJ30681;MGC50861 collagen and calcium-binding EGF domain-containing protein 1;full of fluid protein homolog APPROVED protein-coding 29426 08703 235510;612753 REVIEWED 1321297 CC2D2B coiled-coil and C2 domain containing 2B 10 10 10 q24.1 91501058 91533652 + 97749873 97782431 + 97759848 97792441 + 16385451;16344560;15489334;15164054;14702039;12477932 387707 B7ZBR7;B7ZBX6;Q6DHV5;Q6ZW91 ABBA01021832;AK022203;AK302377;AL356155;AL513355;AMYH01002970;BC075861;CH471066;DB026257;NM_001001732;NM_001159747 AAH75861;BAG63696;EAW49985;NP_001001732;NP_001153219;Q6DHV5 Hs.538374;Hs.652240 2161533 D10S1449 C10orf130;FLJ12141;bA248J23.4 OTTHUMP00000020164;OTTHUMP00000205754;protein CC2D2B protein-coding ENSG00000188649 31666 16578 VALIDATED 1315794 CCBL1 cysteine conjugate-beta lyase, cytoplasmic This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 9 9 q34.11 130635213 130684175 - 131595392 131644354 - 1580863;2306289;6480464;6907045 16984225 7883047;18342615;10369878;8968194;8736988;7814371;2139845;17207965;16828464;16463021;16376499;16344560;15489334;15164053;15016471;14702039;12477932;15364907;19338303;18029348;21832049;22939629;22093698 883 A8K563;B7Z4W5;Q16773;Q5T276;Q5T277;Q5T278 ABBA01043904;ABBA01043905;ABBA01043906;ABBA01043907;AK094505;AK291178;AK297995;AK314427;AL441992;AL672142;AMYH01021752;AMYH01021753;AU123740;AW073815;BC013069;BC021262;BC022468;BC033685;BI755163;BU622726;CH471090;DA381449;EL733697;NM_001122671;NM_001122672;NM_004059;X82224;Y17447;Y17448 AAH21262;AAH33685;BAF83867;BAG37043;BAG52878;BAH12701;CAA57702;CAB44342;CAB44343;EAW87840;EAW87841;NP_001116143;NP_001116144;NP_004050;Q16773 Hs.495250 1679211;1767381;1777040;1791250;1931894;2119408;2129332;5014740;5016364;5022200 D17S610;L18426;L18429;MARC_8233-8234:996688438:1;REN36776;RH46270;RH71294;RH93380;SHGC-31452;WI-22794 FLJ95217;GTK;KAT1;KATI;MGC29624 OTTHUMP00000022311;OTTHUMP00000022312;beta-lysase, kidney;cysteine-S-conjugate beta-lyase;glutamine transaminase K;glutamine--phenylpyruvate transaminase;glutamine-phenylpyruvate aminotransferase;kyneurenine aminotransferase;kynurenine aminotransferase I;kynurenine--oxoglutarate transaminase 1;kynurenine--oxoglutarate transaminase I APPROVED protein-coding ENSG00000171097 1564 02769 600547 REVIEWED 1606260 CCBL2 cysteine conjugate-beta lyase 2 This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Jun 2009] 1 1 1 p22.2 87647258 87704434 - 89174044 89231104 - 89401456 89458643 - 6480464;6907045 19165527;16376499;14702039;12477932;11181995;10441733;8889548;16169070;21145461;20379614;20877624;22001757;21492941;21139048;21890473;21906983;21628590 56267 B4DW13;Q9BVY5 ABBA01045589;ABBA01045590;ABBA01045591;AF091090;AI478599;AK057176;AK301326;AK315917;AL445991;AL833593;AMYH01000777;AY028624;BC000819;BM728982;CH471097;CR450282;CR627392;DC424120;NM_001008661;NM_001008662 AAC72959;AAH00819;AAK26163;BAG51875;BAG62875;BAH14288;CAG29278;CAH10487;EAW73154;EAW73157;EAW73158;NP_001008661;NP_001008662;Q6YP21 Hs.481898 1690105;2122473;2163921;2185571;2186878;5016596 A004S46;GDB:631802;RH93455;SHGC-35041;SHGC-75110;SHGC-75112 DKFZp547N1117;DKFZp667D0223;KAT3;KATIII;MGC9398;RBM1;RBMXL1;RP11-82K18.3;RP4-531M19.2 OTTHUMP00000012357;OTTHUMP00000012359;cysteine-S-conjugate beta-lyase 2;kynurenine aminotransferase III;kynurenine--glyoxylate transaminase;kynurenine--oxoglutarate transaminase 3;kynurenine--oxoglutarate transaminase III;kynurenine-oxoglutarate transaminase 3 APPROVED protein-coding ENSG00000137944 33238 13752 610656 REVIEWED 1605307 CCDC102A coiled-coil domain containing 102A 16 16 16 q21 42046911 42071294 - 56103591 56127978 - 57546090 57570477 - 6480464 15489334;12477932;23137000 92922 Q96A19 ABBA01025273;ABBA01025274;ABBA01025275;AC004382;AMYH01007702;AMYH01007703;AMYH01007704;BC004307;BC008285;BC009941;CA449463;CH471092;NM_033212 AAH04307;AAH08285;AAH09941;ABM83575;ABM86814;EAW82935;NP_149989;Q96A19 Hs.644611 2191171 MARC_15717-15718:1013527516:1 MGC10992;MGC13119 OTTHUMP00000164677;coiled-coil domain-containing protein 102A protein-coding ENSG00000135736 28097 14408 VALIDATED 1604249 CCDC101 coiled-coil domain containing 101 CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] 16 16 p11.2 28472758 28510610 + 28565249 28603111 + 6480464 21685874;21746879;16189514;15489334;14702039;12477932;8889549;18838386;19615732;19915574;17334388;15932940;20508642;22939629;20360068;21139048;23044487 112869 H3BN84;H3BPL5;Q96ES7 AA132314;AA132818;ABBA01043647;AC020765;AK057008;AMYH01007435;AMYH01007436;BC011981;CH471279;NM_138414 AAH11981;BAB71340;EAW52272;NP_612423;Q96ES7 Hs.655476 1676500;1678517;2116432;2191613 MARC_27514-27515:1034369541:3;RH70266;RH80061;SHGC-60826 FLJ32446;SGF29;STAF36 OTTHUMP00000162566;SAGA-associated factor 29 homolog;coiled-coil domain-containing protein 101 APPROVED protein-coding ENSG00000176476 25156 13996 613374 VALIDATED 1602038 CCDC103 coiled-coil domain containing 103 This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012] 17 17 17 q21.31 39687658 39691132 + 40332680 40336155 + 42977080 42981047 + 6480464 15489334;14702039;12477932;17207965;16344560;22581229;20301301 388389 F8W6J8;J3KSE5;Q8IW40 ABBA01028341;AC015936;AK091530;AK289760;AMYH01008431;BC041060;BQ448043;CH471178;DA185416;DA749894;DB024698;DB085134;DB451789;NG_032674;NG_032792;NM_001258395;NM_001258396;NM_001258397;NM_001258398;NM_001258399;NM_213607 AAH41060;ADQ32094;BAF82449;EAW51572;NP_001245324;NP_001245325;NP_001245326;NP_001245327;NP_001245328;NP_998772;Q8IW40 Hs.743398 1853861;2148774;2167075 RH78023;SHGC-24053;WI-13537 CILD17;FLJ13094;FLJ34211;PR46b;SMH OTTHUMP00000205386;OTTHUMP00000205387;OTTHUMP00000205388;coiled-coil domain-containing protein 103 APPROVED protein-coding 32700 14200 614677;614679 REVIEWED 1344849 CCDC102B coiled-coil domain containing 102B 18 18 18 q22.1 63229092 63570133 + 64533471 64873406 + 66382491 66722426 + 6480464 16344560;15489334;14702039;12477932;8125298;1707030;20379614 79839 A1A4H1;C9JV39;J3KRG3;J3KRT2;J3QL62;J3QLG6;Q68D86 ABBA01056275;ABBA01056276;ABBA01056277;AC011087;AC022035;AC040896;AC096708;AK027247;AK057282;AK091108;AK225597;AK308114;AL833863;AMYH01009072;AMYH01009073;AMYH01009074;BC056269;BC126448;BC126450;BQ003970;CH471117;CK823962;CR749520;DB020599;DC380577;DC382329;NM_001093729;NM_024781 AAH56269;AAI26449;AAI26451;BAB15706;CAD38721;CAH18334;EAW66511;EAW66512;NP_001087198;NP_079057;Q68D86 Hs.280781 1337649;1664777;1668298;1676948;1708388;1708518;1709936;1722647 D18S1313;D18S466;G60407;RH80679;SHGC-82233;SHGC-82876;SHGC-85034;STS-AA029428 ACY1L;AN;C18orf14;DKFZp434K1426;DKFZp686I08254;FLJ23594;HsT1731;MGC161726;MGC161728 OTTHUMP00000163692;aminoacylase 1-like;coiled-coil domain-containing protein 102B protein-coding ENSG00000150636 26295 08038 VALIDATED 1602986 CCDC105 coiled-coil domain containing 105 19 19 19 p13.12 15017220 15029771 + 14982556 14995081 + 15121539 15134083 + 6480464 14702039;12477932;19773279 126402 Q8IYK2 ABBA01051092;ABBA01051093;AC004659;AC104528;AK097684;AL833847;AMYH01009542;BC035678;CH471106;NM_173482 AAH35678;BAC05142;CAD38706;EAW84458;NP_775753;Q8IYK2 Hs.375985 FLJ40365 coiled-coil domain-containing protein 105 protein-coding ENSG00000160994 26866 08280 VALIDATED 1603927 CCDC104 coiled-coil domain containing 104 2 2 2 p16.1 55587129 55612615 + 55600244 55625720 + 55746740 55772216 + 6480464 15815621;15489334;12975309;12477932;18029348;20936779;19680650;20639865;18654987;21139048;21890473;21906983;22505724 112942 B5MC35;B5MCA1;B5MD16;Q96G28 ABBA01075270;AC015982;AC019198;AK308776;AK309764;AMYH01010364;AY358097;BC001797;BC010011;BM993564;CH471053;NM_080667 AAH10011;AAQ88464;AAY14933;AAY24269;ABM84008;ABM87342;EAX00097;EAX00098;NP_542398;Q96G28 Hs.264208 2159258;2171125;2183659 RH66650;STS-Z41123;WI-13778 MGC15407 OTTHUMP00000159693;OTTHUMP00000198248;OTTHUMP00000201265;OTTHUMP00000201267;coiled-coil domain-containing protein 104 protein-coding ENSG00000163001 30540 14445 VALIDATED 1606123 CCDC108 coiled-coil domain containing 108 2 2 2 q35 213637289 213675960 - 219575820 219614489 - 219867576 219906245 - 6480464 12477932;21822266;16344560 255101 C9JIV0;C9JLP9;C9JVA0;E9PG25;E9PG72;H7C0B4;Q49A14;Q6ZU64 AA503417;ABBA01023853;AC097468;AK123235;AK125957;AK127189;AK302678;AK302688;AL048936;AL833882;AMYH01011501;AMYH01011502;AMYH01011503;BC031585;BC039688;BC047637;BC130281;BG723301;BX649039;DB070903;HY027454;NM_001278295;NM_001278296;NM_152389;NM_194302 AAH31585;AAH47637;AAI30282;AAX88919;ADZ16075;BAC85566;BAC86362;BAC86878;BAG63910;BAG63917;CAD38738;NP_001265224;NP_001265225;NP_689602;NP_919278;Q6ZU64 Hs.147762 DKFZp434O0527;MGC35338 OTTHUMP00000163969;OTTHUMP00000163970;OTTHUMP00000206325;coiled-coil domain-containing protein 108 protein-coding ENSG00000181378 25325 13201;17534 614270 VALIDATED 1344036 CCDC11 coiled-coil domain containing 11 18 18 18 q21.1 44610119 44649420 - 46007561 46046863 - 47753563 47792865 - 737633;6480464 12477932 15489334;14702039;16189514;21832049;20379614;22577226 220136 Q96M91 ABBA01018669;ABBA01018670;AC090246;AK057305;AK302114;AMYH01008994;AMYH01008995;BC030606;CH471096;NM_145020 AAH30606;BAB71418;BAG63493;EAW62960;EAW62961;NP_659457;Q96M91 Hs.658630 1730545 D18S94 FLJ32743;HTX6 OTTHUMP00000163503;coiled-coil domain-containing protein 11 protein-coding ENSG00000172361 26530 09958 614759;614779 VALIDATED 1607037 CCDC106 coiled-coil domain containing 106 19 19 19 q13.42 53201244 53206819 + 60850766 60856339 + 56158954 56164527 + 6480464 15790807;12477932;9110174;8619474;16169070;15489334;14702039;20159018;21832049 29903 K7EMI9;K7EMP7;K7ER22;K7ES29;Q9BWC9 ABBA01020862;AC008735;AF054984;AK097095;AMYH01010006;AY927563;AY927628;BC000412;BC008956;BI907663;CH471135;CR450308;GU354321;GU354322;GU354323;NM_013301;U79303 AAB50227;AAH00412;AAH08956;ABZ92128;ADC34060;ADC34061;ADC34062;BAG53421;CAG29304;EAW72401;NP_037433;Q9BWC9 Hs.82482 HSU79303;ZNF581 coiled-coil domain-containing protein 106;protein predicted by clone 23882 protein-coding 30181 09995 613478 VALIDATED 1605844 CCDC107 coiled-coil domain containing 107 This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 9 9 9 p13.3 35591860 35594733 + 35648311 35651184 + 35658287 35661500 + 6480464 16713569;15489334;15164053;12477932;8889548;21832049 203260 Q8WV48 ABBA01064988;AK075523;AK307223;AL357874;AMYH01019347;BC018758;BC051285;BE903559;BM973388;CH471071;CS051361;DC410699;DQ884403;NG_017041;NG_033120;NM_001195200;NM_001195201;NM_001195217;NM_174923 AAH18758;AAH51285;ABI63370;ABM82866;ABM86052;BAC11669;CAI72175;EAW58364;EAW58365;EAW58366;EAW58367;EAW58368;EAW58369;NP_001182129;NP_001182130;NP_001182146;NP_777583;Q8WV48 Hs.534579 FLJ97171;MGC31967;PSEC0222;RP11-331F9.6 OTTHUMP00000021334;OTTHUMP00000021335;OTTHUMP00000021336;OTTHUMP00000021337;coiled-coil domain-containing protein 107 protein-coding ENSG00000159884 28465 14545 REVIEWED 1602886 CCDC109B coiled-coil domain containing 109B 4 4 4 q25 107775242 107902535 + 110700866 110828321 + 110481355 110608872 + 6480464 16341674;15489334;15146197;14702039;12477932;16169070;19773279;20332099;17207965;21139048;23455636 55013 C9JTJ6;Q9NWR8 ABBA01063777;ABBA01063778;ABBA01063779;ABBA01063780;ABBA01063781;ABBA01063782;ABBA01063783;AC004067;AC105314;AK000654;AK095936;AK291098;AK311030;AL832311;AMYH01014457;AMYH01014458;BC002633;BM830891;CH471057;CN427680;CR457234;NM_017918 AAH02633;ADQ31823;BAA91309;BAF83787;CAG33515;EAX06242;EAX06243;NP_060388;Q9NWR8 Hs.234149 1644863;1650647;1662290;1666789;1698608;1767711;1772166;2134913;2144014;2155190;2155192;2161978;2185398 G16732;G19585;RH102859;SHGC-19822;SHGC-19823;SHGC-19830;SHGC-19832;SHGC-19837;SHGC-19839;SHGC-23008;SHGC-50796;SHGC-67915;SHGC4-1507 FLJ20647 OTTHUMP00000162741;coiled-coil domain-containing protein 109B protein-coding 26076 07939 VALIDATED 1606416 CCDC110 coiled-coil domain containing 110 4 4 4 q35.1 183693987 183720463 - 186603341 186629871 - 186366336 186392913 - 6480464 14702039;15489334;15447989;12477932;18160854;18029348;21145461 256309 D6RB18;D6RCR3;D6RDN4;E7EUS2;H0Y9S3;Q8TBZ0 AB080722;ABBA01070532;ABBA01070533;AC106897;AI949455;AK097605;AK302815;AL833337;AMYH01014775;AMYH01014776;BC028419;BC038515;BU567268;BX641119;CH471056;DB453450;NM_001145411;NM_152775 AAH28419;AAH38515;ABM85671;BAC05116;BAC81776;BAG64014;EAX04642;EAX04643;NP_001138883;NP_689988;Q8TBZ0 Hs.41101 2145706 STS-H64141 CT52;KM-HN-1;KMHN1;MGC33607 OTTHUMP00000218164;OTTHUMP00000218165;OTTHUMP00000218166;OTTHUMP00000218206;cancer/testis antigen 52;cancer/testis antigen KM-HN-1;coiled-coil domain-containing protein 110 protein-coding ENSG00000168491 28504 11335 609488 VALIDATED 1606143 CCDC112 coiled-coil domain containing 112 5 5 5 q22.3 110550404 110580924 - 114630784 114660357 - 114602885 114632458 - 6480464 16189514;15146197;12477932;8889548;17207965 153733 D6RF76;Q8NEF3 ABBA01069034;AC008494;AJ580807;AMYH01015556;BC031242;BM873447;BM873516;BM975079;CH471086;CN310912;CX786155;DB451908;DB455340;DB476530;NM_001040440;NM_152549 AAH31242;ADQ31767;CAE45342;EAW48966;EAW48967;NP_001035530;NP_689762;Q8NEF3 Hs.436121 1686849 RH91257 MBC1;MGC39633 OTTHUMP00000159134;OTTHUMP00000196940;OTTHUMP00000222913;OTTHUMP00000222914;coiled-coil domain-containing protein 112;mutated in bladder cancer 1;mutated in bladder cancer protein 1 protein-coding ENSG00000164221 28599 11346 VALIDATED 1605846 CCDC111 coiled-coil domain containing 111 4 4 4 q35.1 182899431 182944944 + 185807896 185853106 + 185570767 185616112 + 6480464 14702039;12477932;15489334;15342556;19773279;16027112 201973 D6R908;D6R971;D6RAH5;D6RDM1;H0Y9N8;Q96LW4 ABBA01070517;AC079257;AK057729;AK307317;AMYH01014768;BC018930;BC047467;BC064600;BP245596;BX647575;CH471056;NM_152683 AAH64600;BAB71553;CAI46079;EAX04667;EAX04668;EAX04669;EAX04670;EAX04671;EAX04672;NP_689896;Q96LW4 Hs.481307 1648946;1657223;1675321;1690722;1690832;1715807;1771511;2117577;2121666;2127567;2163671;2176920;5093946 D4S2666;D4S591;G33016;RH119600;RH36537;RH67709;RH76703;RH92480;SHGC-35919;SHGC-50302;SHGC-50366;SHGC-50594;SHGC-68220 FLJ33167 OTTHUMP00000218321;OTTHUMP00000218322;OTTHUMP00000218323;OTTHUMP00000218325;coiled-coil domain-containing protein 111 protein-coding ENSG00000164306 26575 08742 VALIDATED 6768870 CCDC11P1 coiled-coil domain containing 11 pseudogene 1 5 p13.1 39571582 39572774 - 100129040 ABBA01024212;AC026708;AMYH01015043;NG_021844 1337385;1651493;1704194;1715061 CHLC.GATA22B04;D5S577;RH119482;SHGC-79824 pseudo 43919 INFERRED 1602080 CCDC114 coiled-coil domain containing 114 This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013] 19 19 19 q13.33 45664943 45688566 - 53491532 53499144 - 48799709 48823332 - 6480464 16344560;14702039;12477932;19913121;20628086;23261302;23506398;23261303 93233 Q96M63 ABBA01033001;ABBA01033002;ABBA01033003;ABBA01033004;ABBA01033005;AC008392;AK057357;AK057488;AK128144;AL122083;AMYH01009900;BC007730;BC025752;BC031619;BC117431;BC117433;BX101994;CH471177;DB060305;NG_033251;NM_144577 AAI17432;AAI17434;BAB71448;BAB71508;BAC87296;CAB59257;EAW52327;EAW52328;EAW52329;EAW52330;EAW52331;EAW52332;NP_653178;Q96M63 Hs.112645 1700918;5014063 D15S1390;RH104086 CILD20;FLJ32926 OTTHUMP00000209278;coiled-coil domain containing 114;coiled-coil domain-containing protein 114 protein-coding ENSG00000105479 26560 08149 615038;615067 REVIEWED 1606018 CCDC113 coiled-coil domain containing 113 16 16 16 q21 42783261 42817187 + 56841364 56875241 + 58283840 58317740 + 6480464 11256614;16381901;15489336;15489334;12477932;11230166;11076863;11042152;16169070;18029348 29070 H3BMZ8;H3BQS9;Q9H0I3 ABBA01025300;AC009107;AF161550;AK027208;AK299066;AK314300;AL136785;AMYH01007709;AMYH01007710;BC126445;BC126447;CH471092;CR533506;DC369542;NM_001142302;NM_014157 AAF29037;AAI26446;AAI26448;ADR82957;BAB15692;BAG36954;BAG61132;CAB66719;CAG38537;CAL37709;EAW82970;NP_001135774;NP_054876;Q9H0I3 Hs.11614 1684995;1700190;1738631;2119570;5015861;5015961;5022383;5024761;5037552;7185938 D10S16;D15S1477;D16S2766;D8S2279;ECD04345;RH103710;RH36905;RH69554;RH98341 DKFZp434N1418;FLJ23555;HSPC065 OTTHUMP00000164725;coiled-coil domain-containing protein 113 protein-coding ENSG00000103021 25002 07121 VALIDATED 1603946 CCDC115 coiled-coil domain containing 115 2 2 2 q21.1 124369157 124373263 - 130812286 130816392 - 131095816 131099922 - 6480464 14702039;12477932;21118521;21832049;21900206;21139048;21890473 84317 B4DJ47;B8ZZ99;F8WCZ3;Q96NT0 ABBA01017957;AC132479;AK054693;AK124405;AK295922;AMYH01011053;BC006429;CH471263;NM_032357 AAH06429;AAY24075;BAB70794;BAG58709;EAW55610;EAW55611;EAW55612;NP_115733;Q96NT0 Hs.104203 2161660;2163287;2175081 A003B44;RH70800;WI-21758 FLJ30131;MGC12981;ccp1 OTTHUMP00000162399;OTTHUMP00000204515;OTTHUMP00000204516;coiled-coil domain-containing protein 115 protein-coding ENSG00000136710 28178 14428 613734 PROVISIONAL 1602289 CCDC116 coiled-coil domain containing 116 22 22 22 q11.21 5804626 5809156 + 20317086 20321616 + 21987086 21991616 + 6480464 16396496;16189514;15489334;14702039;12477932;23072936;23128233 164592 C9JW89;Q8IYX3 ABBA01055055;AK093365;AK302030;AMYH01012636;AP000553;BC033499;CH471095;HC006868;NM_152612 AAH33499;ADZ15446;BAC04145;BAH13611;CBH19239;EAW59465;EAW59466;NP_689825;Q8IYX3 Hs.131615 1788944 UniSTS:225108 FLJ36046 OTTHUMP00000198555;OTTHUMP00000198557;coiled-coil domain-containing protein 116 protein-coding ENSG00000161180 26688 08203 PROVISIONAL 1343271 CCDC12 coiled-coil domain containing 12 3 3 3 p21.31 46901718 46956791 - 46938225 46993242 - 46963220 47018270 - 737633;6480464;6907045 12477932 21103663;15146197;15489334;14702039;8889548;17207965;20360068;21139048;22269669 151903 C9JUN5;J3KR35;Q8WUD4 ABBA01024709;ABBA01024710;AC094020;AC109583;AK096749;AK098120;AK295532;AK303160;AMYH01013137;AMYH01013138;BC020830;BM676030;BM803652;BQ709657;BX098833;CH471055;CN430023;CV574708;DA952452;DC379144;NM_001277074;NM_144716;NR_102269 AAH20830;ADQ32239;BAC04857;BAG58444;BAG64261;EAW64795;EAW64796;EAW64797;EAW64798;EAW64799;NP_001264003;NP_653317;Q8WUD4 Hs.631918;Hs.692157;Hs.744750 1712154;1769976 G54127;STS-N26202 FLJ39430;FLJ40801;MGC23918 OTTHUMP00000164781;coiled-coil domain-containing protein 12 protein-coding ENSG00000160799 28332 13007 VALIDATED 1603009 CCDC121 coiled-coil domain containing 121 2 2 2 p23.3 27693962 27697354 - 27702010 27705383 - 27848506 27851898 - 6480464 14702039;12477932;11181995;16344560;21386085 79635 E5RHR4;Q6ZUS5 ABBA01045213;AC074091;AK023708;AK124337;AK125354;AMYH01010199;BC056244;BC066936;BC066969;CH471053;DB044538;DB325100;DB444296;DB452051;DB554665;NM_001142683;NM_024584 AAH66936;AAH66969;AAX93200;ADZ15612;BAB14651;BAC86143;BAG54028;EAX00560;EAX00561;NP_001136155;NP_078860;Q6ZUS5 Hs.21081 2117114;2117116;2169301;2172690 A006C05;D2S1424;G20691;WI-18604 FLJ13646;FLJ43364 OTTHUMP00000158534;OTTHUMP00000200844;OTTHUMP00000225829;coiled-coil domain-containing protein 121 protein-coding ENSG00000176714 25833 07834 VALIDATED 1602294 CCDC117 coiled-coil domain containing 117 22 22 22 q12.1 12968632 12985253 + 27498707 27515278 + 29168662 29185283 + 6480464 18029348;15489334;15461802;14702039;12477932;10591208;21139048;19322201 150275 B0QYH1;B0QYH3;B7Z2V1;B7Z820;B7Z860;F8WBN8;Q8IWD4 ABBA01055242;AK091133;AK092636;AK289516;AK295140;AK302798;AK302925;AL023494;AMYH01012692;BC040488;BC053874;BC065549;CH471095;CR456461;CS185626;NM_173510;Z93930 AAH40488;AAH53874;AAH65549;BAC03592;BAF82205;BAH11987;BAH13806;BAH13846;CAG30347;CAJ42807;EAW59761;EAW59762;NP_775781;Q8IWD4 Hs.406460 1663405;1680463;1684300;1721455;2170239;2170241 A002B44;CHLC.GAAT4H07;D22S1010E;G19906;G59579;WIAF-2134 FLJ33814;dJ366L4.1 OTTHUMP00000199103;coiled-coil domain-containing protein 117 protein-coding ENSG00000159873 26599 08167 VALIDATED 1602063 CCDC122 coiled-coil domain containing 122 13 13 13 q14.11 25466632 25509968 - 43308488 43351826 - 44410488 44453826 - 6480464 17672918;16344560;14702039;12477932;20018961 160857 B7ZMJ0;Q5T0U0 ABBA01021238;AK056408;AL512506;AMYH01005080;AW373287;BC137289;BC137290;BC144570;BC144571;CA427248;CH471075;DA739121;NM_144974 AAI37290;AAI37291;AAI44571;AAI44572;BAB71178;EAX08697;EAX08698;EAX08699;EAX08700;NP_659411;Q5T0U0 Hs.170849 2183378;5014051;5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2278;D8S2279;RH65800 FLJ31846 OTTHUMP00000018805;OTTHUMP00000178592;coiled-coil domain-containing protein 122 protein-coding ENSG00000151773 26478 13406 613408 VALIDATED 1606197 CCDC120 coiled-coil domain containing 120 This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012] X X X p11.23 52736981 52747975 - 48803460 48814454 + 48916516 48927510 + 6480464 19447967;16344560;16189514;15489334;14702039;12477932;19377476 90060 A8K5Q5;B4DF24;B4DFC1;Q96HB5 ABBA01046108;ABBA01046109;ABBA01046110;AC231657;AF196779;AK001937;AK056290;AK125424;AK291370;AK293898;AK294024;AK300366;AK315837;AMYH01022292;BC008769;CH471224;DA102343;DA105393;DA237030;NG_016255;NM_001163321;NM_001163322;NM_001163323;NM_001271835;NM_001271836;NM_033626 AAH08769;ABM83863;ABM84608;ABM87185;ABM87192;ABW03534;ABW03839;BAF84059;BAF98728;BAG57285;BAG57382;BAG62104;EAW50708;EAW50709;EAW50710;NP_001156793;NP_001156794;NP_001156795;NP_001258764;NP_001258765;NP_296375;Q96HB5 Hs.522643 5015619;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D8S2279 JM11 OTTHUMP00000023269;coiled-coil domain-containing protein 120 APPROVED protein-coding ENSG00000147144 28910 06595 REVIEWED 1604973 CCDC125 coiled-coil domain containing 125 5 5 5 q13.2 65578896 65619200 - 68612275 68652166 - 68576519 68616410 - 6480464 12477932;19787194;18029348 202243 F8W912;Q86Z20 AB024691;AB024692;ABBA01048277;ABBA01048278;ABBA01048279;ABBA01048280;AC145132;AC145145;AI141520;AK299871;AL832658;AMYH01015145;AMYH01015146;BC108715;BC113749;BQ923745;CH471137;NM_176816 AAI13750;AAI60002;BAC57450;BAC57451;BAG61723;EAW51298;EAW51299;NP_789786;Q86Z20 Hs.654850 1728449;5014740;5014959;5015619;5015881;5017227;5022651;5037552;5109549;5118444 D11S2921;D11S3114;D11S3316;D17S610;D21S1698;D8S2279;G38154;G63660;GDB:335751;L31433 KENAE Kenae;OTTHUMP00000161932;OTTHUMP00000192869;OTTHUMP00000222129;coiled-coil domain-containing protein 125;protein kenae protein-coding ENSG00000183323 28924 13774 613781 VALIDATED 6481201 CCDC13-AS1 CCDC13 antisense RNA 1 3 42774067 42786650 + 100874114 ABBA01024763;AC006059;AMYH01013115;NR_046732 Hs.669654 APPROVED miscrna ENSG00000173811 41142 PREDICTED 1602081 CCDC126 coiled-coil domain containing 126 7 7 7 p15.3 23625775 23673096 + 23603523 23650852 + 23636998 23684327 + 6480464 12975309;12690205;12477932;9847074 90693 C9J0J0;Q96EE4 AACC02000007;ABBA01056713;AC006026;AK026684;AK289911;AL598772;AMYH01017116;AMYH01017117;AY358713;BC012427;BC104638;CH236948;CH471073;NM_138771 AAH12427;AAI04639;AAQ89075;AAQ96871;BAF82600;EAL24252;EAW93792;EAW93793;EAW93794;EAW93795;EAW93796;NP_620126;Q96EE4 Hs.232296 1341384;1699434 D7S2463;RH103308 FLJ23031;MGC104248 OTTHUMP00000158577;OTTHUMP00000202196;OTTHUMP00000202197;alpha-1,3(6)-mannosylglycoprotein beta-1,6-N-acetyl-glucosaminyltransferase-like;coiled-coil domain-containing protein 126 protein-coding ENSG00000169193 22398 14278 VALIDATED 1605304 CCDC124 coiled-coil domain containing 124 19 19 19 p13.11 17945548 17956518 + 17906905 17915783 + 18043824 18054794 + 6480464 15489334;15342556;12477932;21145461;17207965;22863883;21139048;21903422 115098 M0R2F5;Q96CT7 ABBA01051237;AC005602;AC011540;AF086307;AMYH01009578;BC013949;BG829184;BM998230;BP309483;BQ669035;CH471106;DB503140;NM_001136203;NM_138442 AAH13949;ADQ32220;EAW84644;EAW84645;NP_001129675;NP_612451;Q96CT7 Hs.100043 1677468;1683225 RH46130;RH93753 coiled-coil domain-containing protein 124 protein-coding ENSG00000007080 25171 14008 VALIDATED 1350707 CCDC13 coiled-coil domain containing 13 3 3 3 p22.1 42690269 42755122 - 42724878 42789749 - 42749874 42814745 - 737633;6480464 12477932 15489334;8889548;20379614;23251661 152206 Q8IYE1;Q96LI1 ABBA01024763;AC006059;AC099329;AK058196;AK302859;AMYH01013115;BC036050;BM664398;CH471055;NM_144719 AAH36050;BAB71711;BAG64044;EAW64669;EAW64670;EAW64671;NP_653320;Q8IYE1 Hs.604182 1339056;2142757 D3S2304;D3S4039 FLJ25467 OTTHUMP00000164041;coiled-coil domain-containing protein 13 protein-coding ENSG00000244607 26358 08692 VALIDATED 1604967 CCDC129 coiled-coil domain containing 129 7 7 7 p14.3 31544550 31679665 + 31523503 31659828 + 31553685 31698334 + 6480464 14702039;12477932;20379614;16344560 223075 B8ZZ49;E7EQ43;E7ERG9;Q6ZRS4 AACC02000087;ABBA01056821;ABBA01056822;ABBA01056823;AC005090;AC006044;AK095663;AK128026;AK295011;AK304387;AMYH01017152;AMYH01017153;BC132719;DA098735;NM_001257967;NM_001257968;NM_194300;NR_047565 AAI32720;BAC87235;BAG53101;BAG58071;BAG65223;EAL24442;NP_001244896;NP_001244897;NP_919276;Q6ZRS4 Hs.224269 1338601;1696814;1711852;1717573;2182862 D7S474;D7S693;G49151;G49458;RH122091 FLJ38344 OTTHUMP00000158773;OTTHUMP00000197875;OTTHUMP00000202960;coiled-coil domain-containing protein 129 protein-coding ENSG00000180347 27363 14137 VALIDATED 1603363 CCDC127 coiled-coil domain containing 127 5 5 5 p15.33 304440 317859 - 257875 271297 - 204875 218297 - 6480464 15489334;15231748;14702039;12477932;17207965;21890473;21906983 133957 D6R9R2;Q96BQ5 ABBA01034262;ABBA01034263;AC021087;AK098567;AMYH01014821;BC015349;CH471235;NG_033064;NM_145265 AAH15349;ADQ31884;BAC05336;EAW50981;NP_660308;Q96BQ5 Hs.294145 FLJ25701 OTTHUMP00000220452;OTTHUMP00000220453;coiled-coil domain-containing protein 127 protein-coding 30520 14053 VALIDATED 1604584 CCDC130 coiled-coil domain containing 130 19 19 19 p13.2 13752540 13767891 + 13719753 13735106 + 13858753 13874106 + 6480464 12477932;16189514;3203696;17081983;15489334;14702039;16169070;17207965 81576 K7EJZ6;K7ELI4;K7EP29;K7EPA5;K7ES43;P13994 ABBA01029723;ABBA01029724;ABBA01029725;AC008686;AF250306;AK098262;AK293927;AMYH01009511;BC002905;CH471106;NM_030818;X13956 AAH02905;AAK37425;ADQ31796;BAG53603;BAH11628;CAA32138;EAW84367;EAW84368;NP_110445;P13994 Hs.24998 2157596 RH78312 MGC10471 9 kDa protein;coiled-coil domain-containing protein 130 protein-coding ENSG00000104957 28118 11304 PROVISIONAL 1626254 CCDC137P coiled-coil domain containing 137 pseudogene 3 3 3 p13 72066779 72067549 + 72218731 72219501 + 72136041 72136811 + 642802 ABBA01030943;AC105265;AMYH01013277;NG_009746 pseudo 33459 INFERRED 1604275 CCDC135 coiled-coil domain containing 135 16 16 16 q21 42224749 42262676 + 56286227 56322868 + 57728713 57765367 + 6480464 11256614;16344560;14702039;12477932;11230166;21289096 84229 H3BN79;H3BQY5;H3BRN2;H3BRR8;H3BRX1;H3BUK0;Q8IY82 ABBA01025278;ABBA01025279;ABBA01025280;ABBA01025281;AC018552;AK093035;AK093822;AK292558;AL136907;AMYH01007704;BC030661;BC036667;CH471092;DB095284;NM_032269 AAH36667;BAC04026;BAF85247;CAB66841;EAW82947;EAW82948;EAW82949;NP_115645;Q8IY82 Hs.513635 1675828;2191111 MARC_14789-14790:1010672522:1;RH98935 C16orf50;DKFZp434I099;FAP50 OTTHUMP00000164678;coiled-coil domain-containing protein 135;coiled-coil domain-containing protein lobo homolog protein-coding ENSG00000159625 25289 10902 VALIDATED 1604352 CCDC132 coiled-coil domain containing 132 7 7 7 q21.3 87566164 87692840 + 92699589 92826274 + 92861653 92990435 + 6480464 14702039;12853948;12690205;12477932;11347906;19913121;20628086;17207965;21472204;21906983 55610 B4DS55;C9JA29;F2Z3F0;F8WDT1;H0Y7Q2;H7BZP1;Q5JPD9;Q75N11;Q96JG6 AA724937;AACC02000014;AB058764;AB100163;ABBA01045792;ABBA01045793;ABBA01045794;AC002379;AC002453;AK000104;AK027234;AK055965;AK126478;AK299582;AL832393;AL833112;AMYH01017691;BC017888;BC035984;BC047757;BC108708;BC132740;BC132742;BC152424;BE671517;CB985373;CH236949;CH471091;NM_001257998;NM_017667;NM_024553 AAH17888;AAI08709;AAI32741;AAI32743;AAI52425;AAI60012;AAS02013;AAS02014;AAS02023;ADQ32145;BAA90948;BAB15701;BAB47490;BAG54334;BAG61517;BAI52922;CAI46135;EAL24143;EAW76815;EAW76816;EAW76817;EAW76818;EAW76819;EAW76820;EAW76821;NP_001244927;NP_060137;NP_078829;Q96JG6 Hs.202424 1338726;1667914;1671490;1696846;1703520;1759053;2132039;2187401;7186132 D7S652;G49167;GDB:1318432;RH44310;RH44982;RH48622;SHGC-150613;SHGC-82660 FLJ20097;FLJ23581;KIAA1861;MGC176659 OTTHUMP00000162526;OTTHUMP00000208668;coiled-coil domain-containing protein 132 protein-coding ENSG00000004766 25956 VALIDATED 1605621 CCDC134 coiled-coil domain containing 134 22 22 22 q13.2 26002745 26028378 + 40526624 40552249 + 42196678 42222306 + 6480464 18087676;16713569;15489334;15461802;14702039;12477932;10591208;21123754;16196087;21890473;22644376 79879 B0QY51;Q9H6E4 ABBA01055652;ABBA01055653;ABBA01055654;AK026002;AK299311;AL021453;AMYH01012804;BC017693;BX473493;CA420664;CH471095;CR456484;NM_024821 AAH17693;ADZ15807;BAB15315;BAG61322;CAG30370;EAW60468;NP_079097;Q9H6E4 Hs.474991 1661082;1711800 G49425;SHGC-36258 FLJ22349;MGC21013;dJ821D11.3 OTTHUMP00000199517;coiled-coil domain-containing protein 134 protein-coding ENSG00000100147 26185 07988 VALIDATED 1625086 CCDC137 coiled-coil domain containing 137 17 17 17 q25.3 76278678 76285854 + 77244166 77251342 + 79633761 79640937 + 6480464 17207965;12477932;16169070;21044950 339230 I3L0U5;I3L385;I3L4F6;Q6PK04 ABBA01032159;AC139530;AMYH01008718;BC009369;BC052272;BM548065;CH471099;FJ649645;NM_199287 AAH09369;ACX50616;ADQ32182;EAW89669;NP_954981;Q6PK04 Hs.744125 1697852;1780140 RH102453;SHGC-154444 MGC16597 coiled-coil domain-containing protein 137;hepatocellular carcinoma related protein 2 protein-coding ENSG00000185298 33451 614271 VALIDATED 1604321 CCDC136 coiled-coil domain containing 136 7 7 7 q33 123227853 123258698 + 128219335 128249419 + 128431464 128462187 + 6480464 15231747;16713569;15112360;14702039;12690205;12477932;11347906;20877624;17043677;21900206 64753 C9IYI5;C9J884;C9JAD8;C9JE17;C9JU31;H0Y876;H7C4R2;Q96JN2 AACC02000035;AB058696;ABBA01057655;AC024952;AC025594;AI611323;AK023500;AK124447;AL133027;AMYH01017924;BC070114;BC150331;BC152408;BX952188;CH236950;CH471070;DR003042;NM_001201372;NM_022742 AAI50332;AAI52409;BAB14590;BAB47422;BAC85854;CAB61359;EAL24111;EAW83681;EAW83682;EAW83683;EAW83684;EAW83685;EAW83686;EAW83687;EAW83688;NP_001188301;NP_073579;Q96JN2 Hs.521178 1773142;2139024;5125569 D7S2100E;GDB:4585443;RH66361 DKFZp434G156;MGC129657;MGC176632;NAG6 OTTHUMP00000212772;OTTHUMP00000212773;OTTHUMP00000212774;OTTHUMP00000212775;OTTHUMP00000212776;coiled-coil domain-containing protein 136;nasopharyngeal carcinoma-associated gene 6 protein protein-coding ENSG00000128596 22225 10887 611902 VALIDATED 1348740 CCDC14 coiled-coil domain containing 14 3 3 3 q21.1 122039702 122087793 - 125115257 125158620 - 123632269 123680255 - 737633;6480464 12477932 15342556;16713569;16344560;16189514;15146197;14702039;19615732;20936779;21832049;19322201;15840729;17043677;21987572;21139048;21906983;22505724 64770 C9J6B5;C9JSI8;C9JU82;C9JWZ1;H3BM06;H7C2U5;H7C5T3;J3QT39;Q8WUJ8 AA743688;ABBA01016447;ABBA01016448;AC117381;AF086562;AI435151;AK022954;AK027607;AK123060;AK294979;AK295091;AK307847;AL122079;AL833312;AMYH01013435;BC020246;BC040285;BC042613;BG621278;BP213762;BP382977;BX537652;CH471052;CN424790;DA031063;DB037501;DB306263;DB471090;NM_022757 AAH20246;AAH40285;AAH42613;BAB14329;BAB55229;BAH11939;BAH11968;CAB59254;CAD91162;CAD97804;EAW79429;EAW79430;EAW79431;EAW79432;EAW79433;EAW79434;NP_073594;Q49A88 Hs.645028 1335827;2145008;2184248 A006P02;D3S3519;SHGC-77280 DKFZp434L1050;FLJ12892;FLJ41065 OTTHUMP00000202862;OTTHUMP00000202863;OTTHUMP00000202864;OTTHUMP00000215968;OTTHUMP00000215969;coiled-coil domain-containing protein 14 protein-coding ENSG00000175455 25766 07801 VALIDATED 1606113 CCDC141 coiled-coil domain containing 141 2 2 2 q31.2 173288863 173509183 - 179408737 179457923 - 179694484 179914786 - 6480464 12812986;14702039;12477932;19536175;20956536;22505724 285025 B8ZZB3;C9JR62;E7ERF0;H7C0P1;J3KNW6;Q6ZP82 ABBA01062248;ABBA01062249;ABBA01062250;ABBA01062251;ABBA01062252;ABBA01062253;AC023270;AC092640;AC093792;AK096821;AK129847;AL832777;AMYH01011308;BC087856;BC108697;BC115378;BX649042;CH471058;NM_173648 AAI08698;AAI15379;AAX88845;BAC04869;BAC85242;EAX11011;EAX11012;NP_775919;Q6ZP82 Hs.324341 1659674;1763343 D2S2804;SHGC-147067 CAMDI;DKFZp686G197;FLJ26337;FLJ39502;MGC134803 OTTHUMP00000205978;coiled-coil domain-containing protein 141;coiled-coil protein associated with myosin II and DISC1 protein-coding ENSG00000163492 26821 08257 PROVISIONAL 1602834 CCDC140 coiled-coil domain containing 140 This gene encodes a protein that appears to be restricted to select higher primate species. This protein contains a C-terminal coiled-coil domain, which is a versatile structural motif consisting of multiple amphipathic alpha-helices that twist around each other to form a supercoil. [provided by RefSeq, Aug 2011] 2 2 2 q36.1 216930889 216937943 + 222871110 222878180 + 223162866 223169936 + 6480464 14702039;12477932;11166216;14760737;9138288 151278 C9K0E1;Q96MF4 ABBA01023816;AC010980;AK057009;AMYH01011515;BC109388;CH471063;NG_021186;NM_153038 AAI09389;AAY14901;BAB71341;EAW70798;NP_694583;Q96MF4 Hs.350729 1741981;1745265;1745375 GDB:187424;GDB:596326;GDB:603639 FLJ32447;MGC133159 OTTHUMP00000164204;OTTHUMP00000203835;coiled-coil domain-containing protein 140 APPROVED protein-coding ENSG00000163081 26514 08132 VALIDATED 1603550 CCDC138 coiled-coil domain containing 138 2 2 2 q12.3 103713196 103802791 + 108769651 108859279 + 109403219 109492847 + 6480464 12477932;14702039;22118674;21139048;21890473;21906983;17203973;22505724;22797925 165055 F8WF51;H7BZ08;H7C005;Q96M89 ABBA01000764;ABBA01000765;AC010095;AC073415;AK057307;AK125199;AMYH01010857;BC015847;BC038421;BC050579;CH471182;NM_144978 AAH15847;AAH50579;AAX88855;AAY14985;BAB71420;BAC86081;EAW53870;EAW53871;EAW53872;EAW53873;NP_659415;Q96M89 Hs.731709 1673898;1683016;1857034;2114074;2132738 AB070186;RH70637;RH78999;RH79061;RH98799 FLJ32745 OTTHUMP00000161605;OTTHUMP00000203903;coiled-coil domain-containing protein 138 protein-coding ENSG00000163006 26531 08136 PROVISIONAL 1626599 CCDC144A coiled-coil domain containing 144A 17 17 17 p11.2 16496531 16496950 + 16534364 16619036 + 16593639 16678311 + 6480464 12477932;11997339;9628581 9720 A2RUR9;A6NG92;A6NJB5;C9JAY6;C9JT67 AB011137;ABBA01001825;ABBA01035645;ABBA01035646;ABBA01035647;AC098850;AK125971;AMYH01008152;BC034617;BC133019;BC144224;BC144225;NM_014695 A2RUR9;AAI33020;AAI44225;AAI44226;BAA25491;BAC86369;NP_055510 Hs.419859 2133142;2183911 G16511;SHGC-64094 FLJ43983;KIAA0565;MGC164650 OTTHUMP00000065240;coiled-coil domain-containing protein 144A protein-coding ENSG00000170160 29072 PROVISIONAL 7241943 CCDC147-AS1 CCDC147 antisense RNA 1 (head to head) 100505869 ABBA01063087;AL162742;AMYH01003034;XR_110454;XR_111118;XR_171868 Hs.338140 miscrna 45243 MODEL 1606203 CCDC142 coiled-coil domain containing 142 2 2 2 p13.1 74531147 74541522 - 74554737 74563631 - 74699959 74710357 - 6480464 16303743;14702039;12477932;8889548;21790010 84865 H7C450;Q17RM4 ABBA01075602;AC005041;AK027303;AK075543;AMYH01010454;BC117269;BC143398;BC143399;CH471053;CS051387;NM_032779 AAI17270;AAI43399;ADR83249;BAC11686;CAI72188;EAW99650;NP_116168;Q17RM4 Hs.430199 5014740;5015404;5015619;5015961;5016478;5020946;5022322;5022578;5024413;5037552;5109281 D11S2560;D11S3114;D15S1477;D17S610;D1S1423;D1S1425;D8S2279;GDB:434012;L17705;L17877;L17971 FLJ14397;FLJ90728 OTTHUMP00000160422;OTTHUMP00000202625;OTTHUMP00000202626;coiled-coil domain-containing protein 142 protein-coding 25889 08598 VALIDATED 1605248 CCDC144B coiled-coil domain containing 144B (pseudogene) 17 17 p11.2 18427447 18469570 - 18441114 18528930 - 6480464 14702039;12477932;11997339;16344560 284047 Q3MJ40 ABBA01001018;ABBA01003918;ABBA01013324;AC026271;AC107983;AK093811;AMYH01008175;AMYH01008176;BC062767;BC101585;BC104815;BC143561;BX647826;DB113689;EF553518;NR_036647 AAH62767;AAI01586;AAI04816;AAI43562;ABQ66264;Q3MJ40 Hs.419859;Hs.448012 5095864;5114870 D17S1980;SHGC-57390 FLJ36492;MGC126634 coiled-coil domain-containing protein 144B APPROVED pseudo ENSG00000154874 26704 08777 PROVISIONAL 1626596 CCDC144CP coiled-coil domain containing 144C, pseudogene 17 p11.2 20224487 20305504 + 16344560;12477932;11997339 348254 Q8IYA2 ABBA01054581;ABBA01054582;AC008088;AC015818;AK295707;AL162090;AL162091;AMYH01008239;BC036241;DA321951;DV080283;DV080284;NR_023380 BAG58553 Hs.743689 2183911;5015861;5037552;7185938 D10S16;D8S2279;SHGC-64094 CCDC144C;KIAA0565 APPROVED pseudo 29073 PROVISIONAL 1603856 CCDC144NL coiled-coil domain containing 144 family, N-terminal like 17 17 17 p11.2 21742454 21775198 + 20707300 20740045 - 20766708 20799453 - 6480464 12477932;21832049 339184 Q6NUI1 ABBA01050452;AC090774;AMYH01008265;BC068597;NM_001004306 AAH68597;NP_001004306;Q6NUI1 Hs.674830 1788246 D7S3105 MGC87631 OTTHUMP00000163109;putative coiled-coil domain-containing protein 144 N-terminal-like protein-coding ENSG00000205212 33735 17572 PROVISIONAL 6766595 CCDC148-AS1 CCDC148 antisense RNA 1 2 q24.1 159023162 159092681 + 12477932 554201 Q4ZG13 ABBA01004850;AC069146;AMYH01011201;BC021739;NR_038850 AAX88932 Hs.570262 APPROVED miscrna ENSG00000227480 44134 VALIDATED 1604533 CCDC148 coiled-coil domain containing 148 2 2 2 q24.1 152644608 152930040 - 158736724 159021460 - 159027869 159313265 - 6480464 19401682;14702039;12477932;16344560;20379614;21297076 130940 B8ZZV3;F8WBK8;F8WC92;F8WCV9;F8WCW7;Q96BN5 ABBA01004850;AC008070;AC019044;AC069146;AF458588;AK058105;AK123220;AK308783;AK309246;AK311042;AMYH01011201;AMYH01011202;BC015395;BC031994;BC105928;BC107596;BC107597;CH471058;DA230063;NM_001171637;NM_138803 AAH15395;AAI05929;AAI07597;AAI07598;AAM49716;AAX88933;AAX88983;AAY14928;BAB71668;EAX11434;EAX11435;NP_001165108;NP_620158;Q8NFR7 Hs.668597 1646122;1696784;1728953;1784114;1856924 D10Bir6;D2S2686;RH78496;SHGC-153856;SHGC-79818 MGC125588;MGC125590 OTTHUMP00000204753;OTTHUMP00000204759;coiled-coil domain-containing protein 148 protein-coding ENSG00000153237 25191 14046 VALIDATED 1605975 CCDC146 coiled-coil domain containing 146 7 7 7 q11.23 71497691 71625151 + 76589870 76762457 + 76751934 76924521 + 6480464 20935630;21145461;16344560;14702039;12477932;10819331;20379614;22952603 57639 C9JRR4;Q8IYE0;Q96MS1 AB040938;ABBA01058000;ABBA01058001;ABBA01058002;AC007000;AC073635;AC098851;AF461817;AK056542;AK292491;AMYH01017625;BC029458;BC036053;BX649000;CH471091;DB099681;HM370402;NM_020879;XM_003960933;XM_003960934 AAH29458;AAH36053;AAP97709;BAA96029;BAB71211;BAF85180;EAW77041;EAW77042;EAW77043;EAW77044;NP_065930;Q8IYE0;XP_003960982;XP_003960983 Hs.113940 1691162;1718413;1786356;1851320;1855668;2133708;2134752;2142340;2154119;2159953;2178080;2182954;5014051;5022200;5037552;5093722 A009V32;D7S2907;D8S2278;D8S2279;G32885;L18426;RH122407;RH17500;RH79020;RH99096;SGC34766;SHGC-156234;STS-F04943;STS-R61236;STS-Z36531;WI-21151 KIAA1505 OTTHUMP00000208568;coiled-coil domain-containing protein 146 protein-coding ENSG00000135205 29296 11150 VALIDATED 1317458 CCDC147 coiled-coil domain containing 147 10 10 10 q25.1 99854331 99955667 + 106103512 106204838 + 106113522 106214848 + 15489334;15164054;14702039;12477932;21145461;20811636;21832049 159686 Q5T655;Q9H4Y4 ABBA01063087;AK093227;AK296463;AL162742;AL355378;AMYH01003034;BC036225;BC109126;BX641120;CH471066;NM_001008723 AAH36225;AAI09127;BAC04102;BAG59109;EAW49593;EAW49594;EAW49595;NP_001008723;Q5T655 Hs.253576 1342307;1758931;7186191;7186663 D10S540;SHGC-151024 C10orf80;FLJ35908;MGC126475;RP11-554P13.1;bA127L20.4;bA127L20.5;bA554P13.1 OTTHUMP00000020442;bA127L20.4 (novel protein);bA127L20.5 (novel protein);coiled-coil domain-containing protein 147 protein-coding ENSG00000120051 26676 16583 VALIDATED 1605034 CCDC15 coiled-coil domain containing 15 11 11 11 q24.2 121984158 122071427 + 124329227 124416595 + 124824017 124911385 + 6480464 14702039;12477932;20379614;21832049;21890473 80071 E9PKB1;Q0P6D6 ABBA01031248;AK023277;AMYH01004104;AP003501;AW339835;BC018540;BU569785;CH471065;DB516555;NM_025004 AAH18540;BAB14504;EAW67617;EAW67618;NP_079280;Q0P6D6 Hs.287555 1740817;1748807;1782440;2066372;2156986;2183507 D11S1041;D11S1147;D11S4443;REN104373;SHGC-110431;SHGC-155035 FLJ13215 OTTHUMP00000231542;OTTHUMP00000231543;coiled-coil domain-containing protein 15 protein-coding ENSG00000149548 25798 07820 VALIDATED 1606406 CCDC150 coiled-coil domain containing 150 2 2 2 q33.1 191260248 191353407 + 197212601 197305775 + 197504356 197597530 + 6480464 12477932;14702039 284992 B4DRE1;B4DZ03;B4E060;B8ZZI4;E9PCV3;F8WCU1;Q8NCX0 ABBA01062460;ABBA01062461;AC068544;AK001064;AK096130;AK096979;AK125768;AK299214;AK301665;AK302685;AK303236;AK309349;AL834537;AMYH01011384;BC062449;BC062658;CH471063;HC006922;NM_001080539 AAH62449;AAH62658;AAY14905;BAC04706;BAC04920;BAG61253;BAG63139;BAG63915;BAG64322;CAD39193;CBH19266;EAW70131;NP_001074008;Q8NCX0 Hs.132519 1341683;5015881;5020740;5037552;7185494 D2S311;D8S2279;GDB:335751;L17809 DKFZp434P055;FLJ10202;FLJ38811;FLJ39660;MGC72171 OTTHUMP00000205761;coiled-coil domain-containing protein 150 protein-coding ENSG00000144395 26834 08264;08537 PROVISIONAL 2298815 CCDC152 coiled-coil domain containing 152 5 5 5 p12 42646453 42692073 + 42765152 42838296 + 42756920 42802539 + 6480464 12477932;15809229 100129792 B4E0P7;Q4G0S7 ABBA01024242;AC008945;AC113368;AK127368;AK303469;AMYH01015053;AY947526;BC015985;BC039102;CH471119;DB450032;DB515085;NM_001134848 AAH39102;AAX21787;BAG54496;BAG64509;EAW56024;EAW56025;NP_001128320;Q4G0S7 Hs.275775 1682870;1764571;1768235;1772844;1856704;2121104;2134582;2134584;2139739;2186663;5092784 A006E08;D5S1857;D5S2379;G09819;G32328;HUM000AA35;HUM00D2F10;RH78323;SHGC-148164;SHGC-14908;STS-Z11793 CH5400 OTTHUMP00000221372;OTTHUMP00000221373;coiled-coil domain-containing protein 152 protein-coding ENSG00000198865 34438 VALIDATED 1606995 CCDC149 coiled-coil domain containing 149 4 4 4 p15.2 25257207 25430723 - 24437679 24590924 - 24807739 24981826 - 6480464 17457313;16344560;12477932;14702039;18482256;20379614;8889548;21832049;21139048;19850743 91050 Q6ZUS6 ABBA01032684;ABBA01032685;ABBA01032686;ABBA01032687;ABBA01032688;ABBA01032689;AC006390;AC113614;AC116422;AF086111;AK023472;AK125353;AK296454;AK302905;AL834257;AMYH01014065;BC057761;BC067735;CB243678;CH471069;DA950851;DB244172;DC422585;DR423861;NM_001130726;NM_173463 AAH57761;AAH67735;BAC86142;BAG59102;BAG64075;CAD38932;EAW92824;EAW92825;EAW92826;NP_001124198;NP_775734;Q6ZUS6 Hs.106432 1339837;1341345;1683207;1697730;1700056;1756031;1850688;1855104 D4S1110;D4S2911;D4S3052;RH102387;RH103641;SHGC-142844;SHGC-67338;SHGC-67371 DKFZp761B107;FLJ13410 OTTHUMP00000217986;OTTHUMP00000217987;coiled-coil domain-containing protein 149 protein-coding ENSG00000181982 25405 10908 VALIDATED 1603185 CCDC151 coiled-coil domain containing 151 19 19 19 p13.2 11426123 11440715 - 11392272 11406980 - 11531272 11545980 - 6480464 16344560;14702039;12477932 115948 A5D8V7;B3KPH7;B4DXT0;K7EN59;K7EPB4;K7EPK8 ABBA01029855;ABBA01029856;AC024575;AK056363;AK294355;AK302113;AK308072;AMYH01009485;BC014252;BC036041;BC050355;BC141828;BC142637;BC144421;BI548500;CH471106;DB040667;NM_145045 A5D8V7;AAH14252;AAI41829;AAI42638;AAI44422;BAG51689;BAG57620;BAG63492;EAW84213;EAW84214;NP_659482 Hs.124010 1697172 RH102074 FLJ31801;MGC20983 coiled-coil domain-containing protein 151;hypothetical protein mgc20983 protein-coding ENSG00000198003 28303 10076 VALIDATED 1604184 CCDC153 coiled-coil domain containing 153 11 11 q23.3 118566189 118569381 - 119060963 119066584 - 6480464 12477932 283152 Q494R4 AA782908;AA909102;ABBA01039677;AMYH01004080;AP002956;BC043548;BC101443;BC101444;BC101986;CH471065;NM_001145018 AAI01444;AAI01445;AAI01987;EAW67475;NP_001138490;Q494R4 Hs.114777 1682157;1779048 RH48721;RH79602 MGC125447;MGC125448 OTTHUMP00000232150;coiled-coil domain-containing protein 153 protein-coding ENSG00000248712 27446 18762 VALIDATED 2299193 CCDC154 coiled-coil domain containing 154 16 16 16 p13.3 1696988 1707090 - 1423396 1434858 - 1484389 1494490 - 12477932;22895184 645811 A6NI56;B7ZBA8;H3BS06 ABBA01030306;AL031600;AL032819;AL137252;AMYH01007035;BC061641;JN935901;NM_001143980 A6NI56;AEW67365;NP_001137452 Hs.355232 1698850;2146001;2146003 A005U10;RH102989;RH12098 C16orf29 OTTHUMP00000205075;coiled-coil domain-containing protein 154 protein-coding ENSG00000197599 34454 PROVISIONAL 1604878 CCDC157 coiled-coil domain containing 157 22 22 22 q12.2 14552315 14572502 + 29083036 29102818 + 30752627 30772818 + 6480464 16344560;12477932 550631 A8MUK5;E7ETG3;E7EWT0;Q569K6 ABBA01055293;AC004997;AMYH01012705;BC018040;BC092419;BC119799;BC127255;CR936833;DA647196;DB636414;NM_001017437 AAH92419;AAI19800;AAI27256;NP_001017437;Q569K6 Hs.505597 5015619;5015861;5015959;5037552;7185938 D10S16;D10S2448;D11S3114;D8S2279 OTTHUMP00000198929;coiled-coil domain-containing protein 157 protein-coding ENSG00000187860 33854 18686 VALIDATED 1602411 CCDC158 coiled-coil domain containing 158 4 4 4 q21.1 74534331 74628604 - 77453216 77547482 - 77234192 77328458 - 6480464 16189514;12477932;11752456;20383146 339965 Q5M9N0 ABBA01063358;ABBA01063359;ABBA01063360;AC034139;AC096743;AK098600;AK098636;AL832445;AMYH01014313;AMYH01014314;AV658624;BC035224;BC086869;CH471057;NM_001042784 AAH86869;AAI56682;BAC05347;BAC05359;EAX05788;EAX05789;EAX05790;EAX05791;EAX05792;NP_001036249;Q5M9N0 Hs.529680 1653815;1662243;1698172;1772419;2136200;2171966;2183463;5015619;5022578;5022649;5037552 D11S2875;D11S3114;D1S1423;D4S1198;D4S888;D8S2279;G34360;RH102622;SHGC-50351;SHGC-51009;SHGC-59559 FLJ25770;MGC35086 OTTHUMP00000219171;coiled-coil domain-containing protein 158 protein-coding ENSG00000163749 26374 13395 VALIDATED 5134207 CCDC166 coiled-coil domain containing 166 8 8 8 q24.3 141099710 141101175 - 144860852 144862267 - 144788864 144790279 - 6480464 100130274 H0YF60;P0CW27 ABBA01005243;AC105219;AMYH01019111;CH471162;NM_001162914 EAW82208;NP_001156386;P0CW27 Hs.730002 OTTHUMP00000228638;coiled-coil domain containing 121-like;coiled-coil domain-containing protein 166 protein-coding ENSG00000255181 41910 VALIDATED 1602065 CCDC155 coiled-coil domain containing 155 19 19 19 q13.33 46759093 46788876 + 54583318 54613058 + 49891475 49921256 + 6480464 12477932;11441184;16189514;14702039;16344560;16751776;18029348;22826121 147872 M0QX09;M0QXT3;M0QXW9;M0QZT9;M0QZW6;M0R1C7;Q8N6L0 ABBA01032930;AC010619;AC010643;AK057220;AK097696;AMYH01009912;BC029811;CH471177;DB024870;DB517121;NM_144688 AAH29811;BAB71384;EAW52476;EAW52477;EAW52478;NP_653289;Q8N6L0 Hs.662085 1675435;1700992;1783526;5105879 RH104123;RH92075;SHGC-151229;SHGC-152437 DKFZp434A2223;FLJ32658;KASH5 KASH domain-containing protein 5;coiled-coil domain-containing protein 155;protein KASH5 protein-coding ENSG00000161609 26520 08134 VALIDATED 3379453 CCDC160 coiled-coil domain containing 160 X X X q26.2 133757928 133766658 + 133198743 133207474 + 133371077 133379808 + 6480464 12477932;15772651 347475 A6NGH7 ABBA01042413;ABBA01042414;ABBA01042415;AC004409;AMYH01022992;BC017958;CH471107;NM_001101357 A6NGH7;EAX11768;NP_001094827 Hs.679431 UPF0625 coiled-coil domain-containing protein ENSP00000359845;coiled-coil domain-containing protein 160 protein-coding ENSG00000203952 37286 PROVISIONAL 5013869 CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 13 q 36742345 36871992 - 20967262;22566634 100526761 Q9NX45 ABBA01021361;ABBA01021362;ABBA01021363;AK301863;AL139377;AL160392;AMYH01005038;NM_001198910 BAG63302;NP_001185839 Hs.124519 C13orf38-SOHLH2;FLJ57222;KIAA0369;KIAA0610 C13orf38-SOHLH2 fusion protein;CCDC169-SOHLH2 protein;OTTHUMP00000221747;OTTHUMP00000235376 APPROVED protein-coding ENSG00000120669;ENSG00000250709 38866 VALIDATED 4109693 CCDC168 coiled-coil domain containing 168 13 13 q33.1 84226147 84255852 - 103381717 103411422 - 21145461;11181995;14702039;15057823;21906983 643677 Q8NDH2 ABBA01027070;AK097495;AK125984;AL157769;AL833499;AL833908;AMYH01005341;CH471085;NM_001146197 BAC05076;CAD38764;EAX09063;NP_001139669;Q8NDH2 Hs.368382 1710248;1782982;2189967 99-24605;SHGC-81772;SHGC-85214 C13orf40;DKFZp434L2319;DKFZp686P1429;FLJ40176;FLJ43996 coiled-coil domain containing 168;coiled-coil domain-containing protein 168;hypothetical protein LOC643677 APPROVED protein-coding 26851 PROVISIONAL 3441755 CCDC163P coiled-coil domain containing 163, pseudogene 1 1 1 p34.1 44242920 44249842 - 45733168 45738233 - 45959598 45965751 - 6480464 12477932;14702039;18672041 126661 B4DV03;E9PLD6;E9PN01;E9PNU9;E9PPK7;F2Z3K3 ABBA01050870;AK054714;AK300867;AL451136;AMYH01000573;AMYH01000574;BC036618;BC047421;BC101254;BC101255;BC101256;BC101257;BC113060;BC113061;CH471059;NR_033296;NR_033297;NR_033298 BAG62515;EAX06985 Hs.461300 1850935;2153347;5037552 D8S2279;HUM000S162;RH47166 C1orf231 pseudo ENSG00000236624 27003 VALIDATED 1344430 CCDC162P coiled-coil domain containing 162, pseudogene 6 6 6 q21 110362092 110376014 + 109735080 109782959 + 109615506 109629423 + 6480464 12477932;11181995;14574404;15489334;19862010;20139978;23222517 221262 A2VCL2 ABBA01026128;AL359711;AMYH01016582;AX938506;AX957256;BC107113;BC107114;BC128118;BC128119;CH471051;NR_028595 A2VCL2;AAI07114;AAI28119;CAF04364;CAF05609;EAW48356;EAW48357 Hs.373914;Hs.723571 2145752;2150052 G35691;STS-T97500 C6orf184;C6orf185;CCDC162;MGC129804;MGC149201;bA425D10.3;bA425D10.7 APPROVED pseudo ENSG00000203799 21565 PROVISIONAL 3566767 CCDC159 coiled-coil domain containing 159 19 19 19 p13.2 11352055 11360494 + 11318334 11327053 + 11457181 11465620 + 11181995;12477932;15057824;15489334;8889548;16713569 126075 K7EJK8;K7EKC7;K7EKR4;K7EKU9;K7EN56;K7ENC2;K7EPH8;P0C7I6 ABBA01029860;AC024575;AK127284;AK293611;AK301653;AK303641;AK316339;AMYH01009483;BC038439;CA848583;CB241007;CH471106;DC416232;NM_001080503 BAG57074;BAG63130;BAG64645;BAH14710;EAW84198;EAW84199;NP_001073972;P0C7I6 Hs.631636 5022322;5022578;5024039;5037552;5109281;5124558 D11S2560;D16S325;D1S1423;D1S1425;D8S2279;RH98197 FLJ45351;FLJ79238 coiled-coil domain-containing protein 159;coiled-coil domain-containing-like protein-coding ENSG00000183401 26996 VALIDATED 1346141 CCDC172 coiled-coil domain containing 172 10 10 10 q25.3 111813149 111868738 + 118073930 118129531 + 118083940 118139541 + 737633 12477932 20379614;17207965 374355 P0C7W6 ABBA01062959;AC011328;AJ457798;AMYH01003095;BC044830;CH471066;NM_198515 AAH44830;ADQ33001;EAW49454;EAW49455;NP_940917;P0C7W6 Hs.233407 1678535;1703474 RH67627;SHGC-82584 C10orf96;MGC35062 OTTHUMP00000020562;UPF0628 protein C10orf96;coiled-coil domain-containing protein 172;hypothetical protein LOC374355 APPROVED protein-coding ENSG00000182645 30524 18604 VALIDATED 1352845 CCDC167 coiled-coil domain containing 167 6 6 6 p21.2 39005680 39022691 - 37558674 37575678 - 37450696 37467700 - 6480464 16344560;12477932;19204726;19734545 154467 Q5T7F6;Q9P0B6 ABBA01038285;AF161383;AL353597;AMYH01016282;BC003515;BC104835;BC108655;BE907609;CH471081;DA152306;NM_138493 AAF28943;AAH03515;AAI04836;AAI08656;EAX03947;NP_612502;Q9P0B6 Hs.284207 1755107;2175405;2184874 RH78051;SHGC-142037;SHGC-54168 C6orf129;HSPC265;MGC131656 OTTHUMP00000016329;OTTHUMP00000016330;coiled-coil domain-containing protein 167;transmembrane and coiled-coil domain-containing protein C6orf129 APPROVED protein-coding ENSG00000198937 21239 18561 VALIDATED 2302126 CCDC169 coiled-coil domain containing 169 13 13 13 q13.3 17868356 17939180 - 35699176 35769948 - 36801179 36871992 - 14702039;12477932;11181995 728591 A6NNP5;E9PBZ7 AA861917;ABBA01021361;ABBA01021362;AK023568;AK131058;AK308999;AL139377;AMYH01005038;BC013944;BC037403;BC146975;BC171867;BC171872;BC171874;BC171880;BC171881;BC171882;BC171884;CH471075;DB454585;DN999189;NM_001144981;NM_001144982;NM_001144983;NM_001144984;NM_001144985;NM_001144986;NM_001198908 A6NNP5;AAI46976;AAI71867;AAI71872;AAI71874;AAI71880;AAI71881;AAI71882;AAI71884;EAX08553;EAX08557;NP_001138453;NP_001138454;NP_001138455;NP_001138456;NP_001138457;NP_001138458;NP_001185837 Hs.656745;Hs.730899 2117367 SHGC-56606 C13orf38;FLJ13506;FLJ29024;FLJ57222 OTTHUMP00000018256;OTTHUMP00000018257;OTTHUMP00000221741;OTTHUMP00000221742;OTTHUMP00000221743;OTTHUMP00000221744;OTTHUMP00000221745;OTTHUMP00000221746;RP11-251J8.1;coiled-coil domain-containing protein 169;hypothetical protein LOC728591 APPROVED protein-coding ENSG00000242715 34361 VALIDATED 1348779 CCDC171 coiled-coil domain containing 171 9 9 9 p22.3 15486980 15899187 + 15543097 15961897 + 15553097 15971897 + 737633;6480464 12477932 15489334;15164053;14702039;20379614 203238 H0Y5M5;H0Y701;Q6TFL3;Q7Z3F8 ABBA01065262;ABBA01065263;ABBA01065264;ABBA01065265;ABBA01065266;ABBA01065267;ABBA01065268;ABBA01065269;ABBA01065270;ABBA01065271;ABBA01065272;ABBA01065273;ABBA01065274;ABBA01065275;AF440401;AK094506;AK096586;AK128581;AK308284;AL359877;AL513423;AL592153;AL662788;AL832443;AMYH01019249;AMYH01019250;AMYH01019251;AMYH01019252;AMYH01019253;AY422473;BC026063;BC040738;BC064849;BC144214;BC150600;BX537933;CH471071;CR936775;NM_173550 AAH26063;AAH64849;AAI44215;AAI50601;AAM20913;AAR13704;BAC04370;BAC04823;BAC87511;CAD97907;CAH10655;EAW58674;NP_775821;Q6TFL3 Hs.17267 1648200;1652318;1700294;1700720;1723803;1750953;2115017;2125925;2172351 RH103766;RH103985;RH118639;SHGC-104806;SHGC-14223;SHGC-18062;STS-N22831;STS-N25982;WI-16839 C9orf93;DKFZp686P12113;FLJ39267;FLJ46740;MGC50805;bA536D16.1;bA778P13.1 OTTHUMP00000021073;coiled-coil domain-containing protein 171;hypothetical protein LOC203238;myosin tail domain containing protein;uncharacterized protein C9orf93 APPROVED protein-coding ENSG00000164989 29828 10805 PROVISIONAL 1348248 CCDC174 coiled-coil domain containing 174 3 3 3 p25.1 14631500 14652414 + 14668257 14689170 + 14693253 14714166 + 737633;6480464 12477932 16189514;15489334;15342556;14702039;11042152;20379614 51244 Q6PII3 ABBA01025154;AC090952;AF151046;AI797763;AK091158;AK309525;AMYH01012996;BC005199;BC013999;BC033897;BF698254;BP195134;CH471055;NM_016474 AAF36132;AAH13999;AAH33897;EAW64203;NP_057558;Q6PII3 Hs.517820 1665426;1688255;1698138;1721575;2127708;2146930;2162814;2168378;5019655;5111218 D3S3898;G32358;G59797;RH102602;RH44671;RH48289;RH67044;SHGC-56876;STS-N41059;WI-11333 C3orf19;FLJ33839 OTTHUMP00000160274;OTTHUMP00000208217;coiled-coil domain-containing protein 174;hypothetical protein LOC51244;uncharacterized protein C3orf19 APPROVED protein-coding ENSG00000154781 28033 12820 VALIDATED 7205404 CCDC179 coiled-coil domain containing 179 11 p14.2 22868468 22881972 - 100500938 H3BU77 ABBA01061014;AC006299;AI651461;AMYH01003438;AMYH01003439;NM_001195637 H3BU77;NP_001182566 Hs.555029 coiled-coil domain-containing protein 179;uncharacterized protein LOC100500938 protein-coding ENSG00000255359 44653 VALIDATED 1603565 CCDC17 coiled-coil domain containing 17 1 1 1 p34.1 44369706 44373721 - 45858303 45862260 - 46085716 46089731 - 6480464 14702039;12477932;16169070;8889548 149483 F2Z395;F8W7G4;J3KNU3;Q96LX7 ABBA01050862;AK057646;AK298104;AK303939;AK310879;AL355480;AMYH01000574;BC029888;BC065201;BC110988;BC128177;BC128178;BU677500;CH471059;DC359257;DC414623;NM_001114938;NM_001190182 AAH29888;AAI28178;AAI28179;BAB71539;BAG60389;BAG64867;EAX06961;EAX06962;EAX06963;NP_001108410;NP_001177111;Q96LX7 Hs.18912 1769591;2138334 SHGC-74701;SHGC-74703 FLJ17921;FLJ33084;RP4-697E16.4 OTTHUMP00000009505;OTTHUMP00000009506;OTTHUMP00000231397;OTTHUMP00000231398;coiled-coil domain-containing protein 17 protein-coding ENSG00000159588 26574 08155 VALIDATED 2298833 CCDC173 coiled-coil domain containing 173 2 2 2 q31.1 164120771 164169738 - 170210181 170259177 - 170501935 170550931 - 6480464 12477932;8889548;20379614 129881 B4DX81;C9J9F8;C9JQ25;Q0VFZ6 ABBA01014891;ABBA01014892;AC016772;AK301851;AMYH01011249;BC015980;BC065905;BC117445;BQ432665;CB250451;CH471058;NM_001085447 AAH15980;AAI17446;BAG63293;EAX11265;NP_001078916;Q0VFZ6 Hs.370111 1675009;2169994 A004Q48;SHGC-31767 C2orf77 OTTHUMP00000205101;coiled-coil domain-containing protein 173;hypothetical protein LOC129881;uncharacterized protein C2orf77 APPROVED protein-coding ENSG00000154479 25064 VALIDATED 1322133 CCDC170 coiled-coil domain containing 170 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010] 6 6 6 q25.1 152549039 152676191 + 151856920 151984021 + 151815175 151942328 + 6480464 19079262;18445777;16344560;15489334;14702039;14574404;12477932;8889548;8125298;19801982;20200978;20453838;20661439;21263130;21540461;22145905;22504420;23437003 80129 Q8IYT3 ABBA01025633;ABBA01025634;ABBA01025635;AK026958;AK027300;AK225330;AL359494;AL590543;AMYH01016746;BC035003;BC060803;BI562667;BM677624;BM984518;BQ706948;CB306458;CH471051;DB232703;NG_021198;NM_025059 AAH60803;BAB15602;BAB55025;EAW47743;NP_079335;Q8IYT3 Hs.660044 1655320;1658212;1659355;2124421;5015959;5024543 D10S2448;D1S3690;D6S1255;D6S1305;RH35682;RH65963 C6orf97;FLJ23305;bA282P11.1 OTTHUMP00000017435;coiled-coil domain-containing protein 170;coiled-coil domain-containing protein C6orf97;hypothetical protein LOC80129 APPROVED protein-coding ENSG00000120262 21177 10797 VALIDATED 1354013 CCDC177 coiled-coil domain containing 177 14 14 14 q24.1 50100643 50102030 - 69107236 69107841 - 70036531 70041600 - 6480464 15489334;12477932 56936 Q9NQR7 ABBA01030826;AF284217;AK312175;AL133445;AMYH01005825;BC105025;BC105027;CH471061;NM_001271507 AAF86288;BAG35108;EAW80999;NP_001258436;Q9NQR7 Hs.458319 2220674 UniSTS:490166 C14orf162;PLPL coiled-coil domain-containing protein 177;myelin proteolipid protein-like protein;uncharacterized protein C14orf162 APPROVED protein-coding 23243 16614 INFERRED 1317773 CCDC178 coiled-coil domain containing 178 18 18 18 q12.1 27325560 27828679 - 28771364 29274683 - 30517366 31020685 - 737633;6480464 12477932 17081983;15489334;14702039;20379614;22219177 374864 A1L4G8;F8W7A7;J3KRT5;J3KS92;J3KSU3;J3QKU2;J3QRM8;Q5BJE1 ABBA01022470;ABBA01022471;ABBA01022472;ABBA01022473;ABBA01022474;ABBA01022475;ABBA01022476;ABBA01022477;AC025888;AC090371;AC100845;AC104956;AC116607;AK000027;AK126038;AK129955;AMYH01008930;AMYH01008931;AMYH01008932;BC062719;BC091517;BC130535;BC144178;BC144179;CH471088;NM_001105528;NM_198995 AAH62719;AAH91517;AAI30536;AAI44179;ADR83389;BAC85257;BAC86407;EAX01301;NP_001098998;NP_945346;Q5BJE1 Hs.115461 1673970;1682956;1708674;1718301;1720663;1731713;1752023;1755431;1776918;2127197;5094124 AFM164ya9;AFM234VC11;D18S519;D18S987;G54559;G59142;RH122922;RH92259;SHGC-105995;SHGC-142305;SHGC-81478 C18orf34;FLJ44050;MGC111498;MGC163407 OTTHUMP00000163120;OTTHUMP00000163121;coiled-coil domain-containing protein 178;hypothetical protein LOC374864;uncharacterized protein C18orf34 APPROVED protein-coding ENSG00000166960 29588 12691 VALIDATED 1601798 CCDC18 coiled-coil domain containing 18 1 1 1 p22.1 91900087 91998449 + 93418508 93516858 + 93646281 93744287 + 6480464 12477932;12601173 343099 E9PDA0;E9PFB9;F5H8K2;G3V388;H0YCD6;H0YDP2;H7C0C9;J3KP97;Q5T9S2;Q5T9S5;Q6PH87 AA278251;ABBA01045526;AC126124;AI436590;AK126045;AL139421;AMYH01000801;AW444474;AY211914;AY211918;BC056667;BX538286;CA428763;CH471097;NM_206886 AAH56667;AAI52763;AAI56746;AAO65167;AAO65171;BAC86410;CAD98081;EAW73078;EAW73079;EAW73080;NP_996769;Q5T9S5 Hs.310637;Hs.482873 1337642;1692074;1693254;1714183;1797206 AL033579;AL033677;D1S2779;LOC348363;RH119701 NY-SAR-41;RP4-717I23.1;dJ717I23.1 OTTHUMP00000012325;OTTHUMP00000012326;OTTHUMP00000228706;coiled-coil domain-containing protein 18;sarcoma antigen NY-SAR-24;sarcoma antigen NY-SAR-41 protein-coding ENSG00000122483 30370 VALIDATED 1346239 CCDC176 coiled-coil domain containing 176 14 14 14 q24.3 54523011 54569747 + 73586210 73602548 + 74486059 74532795 + 6480464 18029348;17081983;15489334;14702039;12477932;22990118 80127 B3KUM1;G3V335;G3V488;Q8ND07 ABBA01030733;ABBA01030734;ABBA01030735;ABBA01030736;AC005484;AK026842;AK097531;AL834487;AMYH01005850;AMYH01005851;BC044808;BC104979;BC104981;CH471061;DB484577;DB493409;NG_033060;NM_025057 AAI04980;AAI04982;BAB15572;BAG53483;CAD39145;EAW81157;NP_079333;Q8ND07 Hs.644621 1336224;1652525;1669587;1675724;1688963;1721531;2110249;2127101;2150696;2185989 ALDH6A1_3184;D14S986;G36322;G59620;RH46132;RH67790;RH69632;RH92479;SHGC-54582;STS-R00273 C14orf45;FLJ23189 OTTHUMP00000202402;coiled-coil domain-containing protein 176;hypothetical protein LOC80127;uncharacterized protein C14orf45 APPROVED protein-coding ENSG00000119636 19855 12650 VALIDATED 1602471 CCDC181 coiled-coil domain containing 181 1 1 1 q24 142473892 142506452 - 167630738 167663294 - 169364114 169396670 - 6480464 15231748;12477932;8125298;19536175;18029348 57821 Q5TID7 ABBA01027952;AK098712;AK223354;AK313598;AL021068;AL049687;AMYH01001488;BC008388;BC008389;BC026073;CH471067;NM_021179 AAH26073;BAD97074;BAG36364;CAB41258;EAW90840;EAW90841;NP_067002;Q5TID7 Hs.567557 1656813;1677094;1700772;2109087 BLZF1_8827;RH104011;RH65485;RH92136 C1orf114;FLJ25846;RP1-206D15.2 OTTHUMP00000033494;OTTHUMP00000033495;coiled-coil domain-containing protein 181;uncharacterized protein C1orf114 APPROVED protein-coding ENSG00000117477 28051 14258 PROVISIONAL 4110705 CCDC180 coiled-coil domain containing 180 9 9 q22.33 70584270 70653930 + 100069910 100139577 + 10819331;11181995;12477932;14702039;15164053;15489334;16344560;17924679;17974005;18978678 100499483 B1APT3;B4DZK1;C9JGX5;F5H149;Q9P1Z9 ABBA01042933;AK123391;AK302965;AL137557;AL512590;AMYH01021553;BC047097;CH471105;CR627453;CR749320;DB050504;NM_020893 AAH47097;BAG64113;CAH10534;CAH10701;CAH18175;EAW58840;EAW58841;NP_065944;Q9P1Z9 Hs.435629 1726665;1780008;5014051;5015619;5037552;5112283 D11S3114;D8S2278;D8S2279;G62568;RH103003;SHGC-154259 BDAG1;DKFZp434I2420;DKFZp686B2031;DKFZp686G1725;FLJ41397;FLJ50036;KIAA1529 Behcet's Disease Associated Gene 1;OTTHUMP00000229402;coiled-coil domain-containing protein 180;hypothetical protein LOC100499483;uncharacterized protein C9orf174 APPROVED protein-coding ENSG00000197816 29303 VALIDATED 1604370 CCDC19 coiled-coil domain containing 19 1 1 1 q22 132910587 132938343 - 158108778 158136530 - 159842154 159869906 - 6480464 12477932;10524255;8125298;20715168;20000738;22140479;19322201;22997098 25790 Q05BA3;Q9UL16 ABBA01016617;AF094758;AK225566;AK225582;AK292249;AK308262;AL590560;AMYH01001448;BC027874;BC064386;BC089391;BC109055;CH471121;NM_012337 AAD55817;AAH89391;BAF84938;EAW52765;EAW52766;NP_036469;Q9UL16 Hs.647705 2138741 AL009554 NESG1;RP11-190A12.6 OTTHUMP00000033461;coiled-coil domain-containing protein 19, mitochondrial;nasopharyngeal epithelium specific protein 1 (NESG1);nasopharyngeal epithelium-specific protein 1 protein-coding ENSG00000213085 17229 05514 605152 VALIDATED 1352329 CCDC22 coiled-coil domain containing 22 This gene encodes a protein containing a coiled-coil domain. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. Localization of the orthologous rat protein suggests that it may play a role in neuronal injury response. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2011] X X X p11.23 52557382 52572443 - 48978885 48994341 + 49091927 49106987 + 737633;6480464 12477932 19204726;18029348;15489334;12522145;8889548;20237496;20398921;17478047;21826058;21988832;23563313;21139048;21890473;21906983;22070227;22505724;22797925 28952 O60826 ABBA01046141;ABBA01046142;AC232271;AF235097;AJ005890;AK291976;AK296911;AK298264;AK316375;AMYH01022294;BC000972;BC011675;BG912845;BM146102;CH471224;NG_021311;NM_014008 AAH00972;AAH11675;ABM85096;ABW03374;BAF84665;BAG59466;BAG60528;BAH14746;CAA06747;EAW50674;EAW50675;EAW50676;NP_054727;O60826 Hs.26333 1339854;1678085;1754167;2162098;7186118 DXS1208;DXS9795;RH99318;SHGC-132193 CXorf37;JM1 OTTHUMP00000025839;chromosome x open reading frame 37;coiled-coil domain-containing protein 22 APPROVED protein-coding ENSG00000101997 28909 06594 300859 REVIEWED 1605525 CCDC23 coiled-coil domain containing 23 1 1 1 p34.2 41554652 41565039 - 43045320 43055510 - 43272723 43283059 - 6480464 8889548;12477932;16710414;15489334;20736312;22614011 374969 Q8N300 ABBA01050971;ABBA01050972;ABBA01050973;AC098484;AK291356;AL512353;AMYH01000554;AMYH01000555;BC029427;BM675639;BQ712089;CH471059;NM_199342 AAH29427;BAF84045;EAX07134;EAX07135;NP_955374;Q8N300 Hs.113919 1688030;2174740;2176307;5092690 A005Q11;G32266;RH98844;SHGC-74676 OTTHUMP00000008831;coiled-coil domain-containing protein 23 protein-coding ENSG00000177868 29204 14191 VALIDATED 1603566 CCDC24 coiled-coil domain containing 24 1 1 1 p34.1 42740817 42745738 + 44229867 44234787 + 44457280 44462200 + 6480464 16710414;15489334;14702039;12477932;17207965;17043677 149473 Q6MZH0;Q8N4L8 ABBA01050934;AK092569;AL139220;AMYH01000564;AY487420;BC033868;BC047313;BX641142;CH471059;NM_152499 AAH33868;AAH47313;AAR39430;ADQ31638;CAE46063;EAX07058;EAX07059;EAX07060;EAX07061;NP_689712;Q8N4L8 Hs.632394 1662251;1669277;2191321;2218288 B4GALT2_4418;MARC_17364-17365:1033586704:3;RH78692;SHGC-74711 MGC45441;RP5-1198O20.2 OTTHUMP00000010013;coiled-coil domain-containing protein 24 protein-coding ENSG00000159214 28688 14636 PROVISIONAL 1605370 CCDC25 coiled-coil domain containing 25 8 8 8 p21.1 26550714 26590067 - 27646752 27686089 - 27590833 27630170 - 6480464 17081983;16344560;15489334;15345747;14702039;12477932;19322201;20379614;22379092 55246 B7Z2L8;E5RI21;G3V121;Q0P663;Q0VGD4;Q86WR0 ABBA01005592;ABBA01005593;AC013643;AC104997;AK001715;AK027900;AK292875;AK294848;AK311437;AK316015;AMYH01018599;BC006239;BC032588;BC049197;BC054039;BC065295;BC110391;CH471080;DA218015;NM_018246 AAH06239;AAH32588;AAH49197;AAH54039;AAH65295;AAI10392;BAA91857;BAB55442;BAF85564;BAH11904;BAH14386;EAW63539;EAW63540;EAW63541;EAW63542;EAW63543;NP_060716;Q86WR0 Hs.445512 1653825;1679603;2120040;2172210 A005K31;RH48464;RH66509;WI-12131 FLJ10853 OTTHUMP00000163035;OTTHUMP00000225312;OTTHUMP00000225313;OTTHUMP00000225315;coiled-coil domain-containing protein 25 protein-coding ENSG00000147419 25591 07705 VALIDATED 1605139 CCDC30 coiled-coil domain containing 30 1 1 1 p34.2 41282491 41402263 + 42772129 42892444 + 43000560 43120335 + 6480464 16710767 728621 B4DXQ2;D6RB86;D6RFH8;Q5VVM6 ABBA01023129;ABBA01023130;ABBA01023131;AC098484;AK024625;AK302075;AL138788;AL445669;AL832217;AMYH01000550;AMYH01000551;AY639646;BX640642;DC397297;NM_001080850 AAX19141;BAB14936;BAG63464;CAE45789;NP_001074319;Q5VVM6 Hs.729640 1335597;1341823;1668273;1701182;2160386;2167874;5014051;5015961;5020885;5021872;5022322;5022651;5024413;5037552;5109281;7187431 AL009878;D11S2560;D11S2921;D15S1477;D1S1425;D1S1702;D1S193;D1S2861;D8S2278;D8S2279;L17791;L17877;RH104219;WI-15744;sY3084 FLJ20972;PFD6L;PFDN6L OTTHUMP00000008584;OTTHUMP00000222509;coiled-coil domain-containing protein 30;prefoldin 6-like;prefoldin subunit 6-like protein protein-coding ENSG00000186409 26103 08632 VALIDATED 6484038 CCDC34P1 coiled-coil domain containing 34 pseudogene 1 4 q25 112989162 112989684 + 100288584 ABBA01063812;AC093663;AMYH01014468;NG_022070 pseudo 44008 INFERRED 1602432 CCDC27 coiled-coil domain containing 27 1 1 1 p36.32 2923006 2942247 + 3658822 3678069 + 3668965 3688209 + 6480464 18597038;16710414;16344560;15489334;14702039;12477932;20379614;22589738;23251661 148870 J3QKX2;Q2M243 ABBA01073653;AK057387;AL136528;AL365330;AMYH01000192;BC112108;BC112112;CH471130;DB048639;NM_152492 AAI12109;AAI12113;BAB71462;EAW71476;EAW71477;NP_689705;Q2M243 Hs.348700 1692012;1700780;1733056 AL033657;D1S1403;RH104015 FLJ32825;MGC138313;MGC138317;RP1-286D6.1 OTTHUMP00000003588;coiled-coil domain-containing protein 27 protein-coding ENSG00000162592 26546 08141 VALIDATED 1351078 CCDC28A coiled-coil domain containing 28A This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q23.1-q24.1 139834761 139854557 + 139136350 139156149 + 139094657 139114456 + 6480464 22058212;16028218;15489334;14574404;12477932;21139048;19322201 25901 Q8IWP9 ABBA01025806;AJ420568;AK300672;AL050197;AL121834;AMYH01016704;AY167571;BC000758;BC004464;BC013019;BC080566;BC108717;CH471051;NM_015439 AAH04464;AAH13019;AAH80566;AAI08718;AAN87344;BAG62357;CAB43315;EAW47910;EAW47911;NP_056254;Q8IWP9 Hs.412019 1658308;1665293;2124793 RH46863;SHGC-31193;STS-N33316 C6orf80;CCRL1AP;DKFZp586D0623;MGC131913 OTTHUMP00000017302;chemokine C-C motif receptor-like 1 adjacent;coiled-coil domain-containing protein 28A APPROVED protein-coding ENSG00000024862 21098 09857 615353 VALIDATED 1606993 CCDC34 coiled-coil domain containing 34 11 11 11 p14.1 27504487 27530149 - 27316637 27341371 - 27360061 27384795 - 6480464 11173847;17207965;15334068;12477932;10508479 91057 Q96HJ3 ABBA01060973;ABBA01060974;AC090597;AF155108;AF301222;AF382034;AK308494;AK313358;AL555720;AMYH01003456;AY598334;BC008496;BC029421;BU595712;CH471064;NM_030771;NM_080654 AAD42874;AAG39935;AAH08496;AAO13807;AAT06745;ADQ31630;BAG36159;EAW68287;EAW68288;EAW68289;NP_110398;NP_542385;Q96HJ3 Hs.143733 1668956;1675710 RH47720;RH92404 L15;NY-REN-41;RAMA3 NY-REN-41 antigen;OTTHUMP00000232172;OTTHUMP00000232173;coiled-coil domain-containing protein 34;renal carcinoma antigen NY-REN-41 protein-coding ENSG00000109881 25079 14868 612324 VALIDATED 1605539 CCDC36 coiled-coil domain containing 36 3 3 3 p21.31 49193717 49258916 + 49210865 49270160 + 49235861 49295537 + 12477932 339834 B4DZP6;F2Z2G6;Q8IYA8 AA858032;ABBA01024602;ABBA01024603;ABBA01024604;ABBA01024605;AC121247;AC135506;AK058049;AK303033;AMYH01013155;BC015057;BC036202;CH471055;NM_001135197;NM_178173 AAH36202;ADZ16026;BAB71640;BAG64158;EAW64965;EAW64966;NP_001128669;NP_835467;Q8IYA8 Hs.631931 1660641;1701436;5014051;5022578 D1S1423;D3S4019;D8S2278;RH104350 CT74;FLJ25320 OTTHUMP00000208932;OTTHUMP00000208933;cancer/testis antigen 74;coiled-coil domain-containing protein 36 protein-coding ENSG00000173421 27945 14172 VALIDATED 1351886 CCDC3 coiled-coil domain containing 3 10 10 10 p13 12864409 12969462 - 12978631 13083710 - 12938625 13043704 - 6480464 11256614;16381901;15489336;15489334;14702039;12477932;11230166;11076863;20881960 83643 Q5VYV9;Q9BQI4 ABBA01034635;AF190154;AK024578;AK095792;AK123393;AK124195;AL136562;AL353586;AL355355;AL596124;AMYH01002037;AMYH01002038;AMYH01002039;BC051334;CH471072;DN996248;NM_031455 AAH51334;AAQ13698;BAG53129;CAB66497;CAL38166;EAW86311;NP_113643;Q9BQI4 Hs.498720 1655406;1774966;2121203;2129721;2150641;2158668;2164947;2181603 G17404;RH44318;RH44500;RH44748;RH70051;STS-W81358;WI-13753;WI-20155 DKFZp761F241;FLJ20925;RP11-347I22.1 OTTHUMP00000019122;coiled-coil domain-containing protein 3;fat/vessel-derived secretory protein;favine protein-coding ENSG00000151468 23813 13008 VALIDATED 6481202 CCDC39-AS1 CCDC39 antisense RNA 1 100874112 AC068298 APPROVED miscrna 41089 1603961 CCDC28B coiled-coil domain containing 28B The product of this gene localizes to centrosomes and basal bodies. It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008] 1 1 1 p36.11-p34.2 30936104 30940893 + 32438789 32443578 + 32666202 32670991 + 6480464;7240710 19402160;16710414;16344560;16327777;15489334;14702039;12477932;8889548;8125298;17207965;21832049;20301537;23015189 79140 E9PM03;E9PM81;Q9BUN5 ABBA01023437;AK092702;AK225113;AK291904;AL049795;AMYH01000465;BC002462;BC022848;BM981930;CH471059;DA899719;NG_012178;NM_024296 AAH22848;ADQ32629;BAF84593;EAX07563;EAX07564;NP_077272;Q9BUN5 Hs.534482 MGC1203;MGC16441;RP4-622L5.5 OTTHUMP00000006371;OTTHUMP00000006372;coiled-coil domain-containing protein 28B APPROVED protein-coding ENSG00000160050 28163 14422 209900;610162 REVIEWED 1602211 CCDC33 coiled-coil domain containing 33 15 15 15 q24.1 51477090 51577123 + 72315720 72415535 + 74528667 74628482 + 6480464 16189514;19240061;16713569;16344560;15342556;14702039;12477932;20068295;20379614;21832049;19447967;23251661;23088713 80125 C9JFX2;H0YMB8;Q8N5R6 ABBA01060486;AC023300;AC090826;AI223423;AK026821;AK057417;AK290709;AK310852;AMYH01006792;BC009178;BC025689;BC031684;BP292996;CH471136;DB049940;DB070410;DB078117;NM_025055;NM_182791 AAH31684;BAB15564;BAF83398;BAG51911;EAW99343;EAW99344;EAW99345;EAW99346;EAW99347;NP_079331;NP_877592;Q8N5R6 Hs.383206;Hs.621342 1338877;1342213;1722933;1763931 D15S1001;D15S991;G60564;SHGC-147595 CT61;FLJ23168;FLJ32855;MGC34145 cancer/testis antigen 61;coiled-coil domain-containing protein 33 protein-coding ENSG00000140481 26552 09959 VALIDATED 1605540 CCDC39 coiled-coil domain containing 39 The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011] 3 3 3 q26.33 178763919 178829392 - 181814490 181879977 - 180331796 180397283 - 6480464 20379614;11256614;12477932;11329013;21145461;21131972;22693285;20301301 339829 C9IZC4;F8WBW2;H7C4X6;H7C5I6;Q9UFE4 ABBA01058515;AC068298;AK304270;AL122120;AMYH01013691;AMYH01013692;BC047103;BG205877;DC399927;NG_029581;NM_181426 BAG65133;CAB59277;NP_852091;Q9UFE4 Hs.712820;Hs.734668 1645368;1855293 RH66248;WI-11544 CILD14;DKFZp434A128;FAP59 OTTHUMP00000212526;OTTHUMP00000212527;coiled-coil domain-containing protein 39 APPROVED protein-coding ENSG00000145075 25244 613798;613807 REVIEWED 2311614 CCDC42B coiled-coil domain containing 42B 12 12 12 q24.13 113214654 113224070 + 112072046 112079110 + 113587663 113597081 + 16541075 387885 A6NFT4;H0YHK5 ABBA01019947;ABBA01019948;ABBA01019949;AC089999;AMYH01004757;NM_001144872 A6NFT4;NP_001138344 Hs.486856 1736220 D12S1164E OTTHUMP00000241813;coiled-coil domain-containing protein 42B protein-coding ENSG00000186710 37100 PROVISIONAL 1603366 CCDC38 coiled-coil domain containing 38 12 12 12 q23.1 95929959 96005323 - 94784958 94860559 - 96260826 96336428 - 6480464 15489334;14702039;12477932;20379614;21946350;23284291 120935 F8VRK3;F8VTU7;F8VY05;H0YHI1;Q502W7 ABBA01053320;ABBA01053321;AC090001;AC126174;AK097408;AMYH01004677;BC047659;BC095479;CH471054;NM_182496 AAH95479;BAC05038;EAW97550;EAW97551;NP_872302;Q502W7 Hs.210377 1676236 RH93038 FLJ40089 OTTHUMP00000243555;coiled-coil domain-containing protein 38 protein-coding ENSG00000165972 26843 08268 VALIDATED 1605992 CCDC40 coiled-coil domain containing 40 This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 17 17 17 q25.3 74636488 74703213 + 75625030 75689007 + 78010431 78074412 + 6480464 20301301;16344560;14702039;12477932;10997877;21131974;20714864;21832049;22693285;23382691 55036 I3L292;I3L2X6;I3L3G6;I3L477;J3QSY2;Q4G0X9 AB046860;ABBA01015411;ABBA01015412;ABBA01015413;ABBA01015414;AC087741;AC116025;AI393590;AK000760;AK056583;AK130684;AL713758;AMYH01008690;AMYH01008691;AMYH01008692;AW300891;BC035251;BC058288;BQ009577;CH471099;DA842356;DB230102;DB236682;NG_029761;NM_001243342;NM_017950 AAH35251;AAH58288;BAA91365;BAB13466;EAW89578;EAW89579;NP_001230271;NP_060420;Q4G0X9 Hs.202542 1675606;1682884;1693794;5022651 D11S2921;RH92754;RH98689;SHGC-58932 CILD15;FLJ20753;FLJ32021;KIAA1640 OTTHUMP00000163559;coiled-coil domain-containing protein 40 APPROVED protein-coding ENSG00000141519 26090 613799;613808 REVIEWED 7244507 CCDC41-AS1 CCDC41 antisense RNA 1 (head to head) 12477932;14702039 144486 ABBA01053364;AC068779;AK057269;AMYH01004661;BC035086;BC044616;NR_027035 Hs.118205 2123456 RH46348 miscrna 27055 VALIDATED 1602811 CCDC37 coiled-coil domain containing 37 3 3 3 q21.3 124538607 124580221 + 127596472 127638088 + 126113782 126155398 + 6480464 15489334;14702039;12477932;22011669 348807 E9PQV5;Q494V2 ABBA01016392;ABBA01016393;AC063919;AC073439;AK097402;AMYH01013450;BC101366;BC101367;BC101368;BC101369;CH471052;NM_182628 AAI01367;AAI01368;AAI01369;AAI01370;BAC05035;EAW79363;EAW79364;NP_872434;Q494V2 Hs.591305 1689518;1784810 RH92086;SHGC-155269 FLJ40083;MGC120558 OTTHUMP00000222548;OTTHUMP00000222567;coiled-coil domain-containing protein 37 protein-coding ENSG00000163885 26842 08805 VALIDATED 1601721 CCDC42 coiled-coil domain containing 42 17 17 17 p13.1 8664029 8678936 - 8573977 8588879 - 8633246 8648154 - 6480464 16189514;15489335;15489334;14702039;12477932;21139048 146849 J3KSK0;Q96M95 ABBA01054922;ABBA01054923;AC009451;AC011061;AI204372;AK057296;AMYH01008091;BC029224;CH471108;CV030241;NM_001158261;NM_144681 AAH29224;BAB71414;EAW90043;EAW90044;EAW90045;NP_001151733;NP_653282;Q96M95 Hs.121438 1760091 SHGC-106931 CCDC42A;FLJ32734 coiled-coil domain-containing protein 42A protein-coding ENSG00000161973 26528 08731 VALIDATED 1606980 CCDC43 coiled-coil domain containing 43 17 17 17 q21.31 39465309 39477668 - 40110331 40122691 - 42754805 42767165 - 6480464 14702039;12477932;17207965;21044950;21139048;21890473;22944692 124808 K7ER24;Q86WV7;Q96MW1 ABBA01028356;AC091152;AI073854;AK056357;AK098464;AL833590;AMYH01008426;BC023298;BC047776;BG706097;BX648868;CH471178;NM_001099225;NM_144609 AAH47776;ADQ33069;BAB71162;EAW51588;EAW51589;NP_001092695;NP_653210;Q96MW1 Hs.579115 1673368 RH15900 FLJ31795 coiled-coil domain-containing protein 43 protein-coding ENSG00000180329 26472 08107 VALIDATED 1606008 CCDC41 coiled-coil domain containing 41 12 12 12 q22 94373316 94525023 - 93226187 93377895 - 94702056 94853764 - 6480464 16344560;15489334;14702039;12477932;10508479;8889548;23530209;12586822;23251661;23314748 51134 F8VYN8;H0YHH5;J3KNW7;Q3B787;Q9Y592 ABBA01053364;AC068779;AC073655;AF155115;AK056316;AL705616;AMYH01004661;BC011009;BC032943;BC053614;BC107746;BC125086;BC125087;BU608784;CH471054;DA440413;DB449066;NM_001042399;NM_016122 AAD42881;AAI07747;AAI25087;AAI25088;EAW97501;EAW97502;EAW97503;EAW97504;EAW97505;NP_001035858;NP_057206;Q9Y592 Hs.279209 1337714;1651019;1654262;1698668;1746147;1746153;1756655;1767074;2123456;2129156;2166342;7186838 B311WC5;D12S1881;D12S327;G64442;G64527;RH102893;RH46348;RH48574;RH48920;SHGC-143711;SHGC-54537 Cep83;MGC149726;NY-REN-58 NY-REN-58 antigen;OTTHUMP00000243334;OTTHUMP00000243335;OTTHUMP00000243336;centrosomal protein of 83 kDa;coiled-coil domain-containing protein 41;renal carcinoma antigen NY-REN-58 protein-coding ENSG00000173588 17966 14869 VALIDATED 1602866 CCDC51 coiled-coil domain containing 51 3 3 3 p21.31 48424351 48432300 - 48448584 48456533 - 48473580 48481529 - 6480464 15342556;15146197;14702039;12477932;17207965;20877624;21906983;18029348 79714 C9JPZ8;C9JSW8;Q96ER9 AA749172;ABBA01024651;AC104448;AK022498;AL533758;AMYH01013149;AW957929;BC004341;BC011993;BG336520;BI755881;BM810621;BP307614;BQ050243;BQ427785;CH471055;CN259750;NM_001256964;NM_001256965;NM_001256966;NM_001256967;NM_001256968;NM_001256969;NM_024661 AAH11993;ADQ32699;BAB14060;EAW64867;EAW64868;EAW64869;EAW64870;EAW64871;EAW64872;NP_001243893;NP_001243894;NP_001243895;NP_001243896;NP_001243897;NP_001243898;NP_078937;Q96ER9 Hs.187657;Hs.740720 1687391;1688279;1778182 RH92047;RH98863;STS-AA116092 FLJ12436 OTTHUMP00000210092;OTTHUMP00000210093;coiled-coil domain-containing protein 51 protein-coding ENSG00000164051 25714 08571 VALIDATED 2303339 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 18 18 p11.22 10613869 10614303 - 10623671 10624306 - 645859 ABBA01001270;AMYH01008810;AP001180;NG_009486 pseudo 32457 INFERRED 7206859 CCDC58P2 coiled-coil domain containing 58 pseudogene 2 10 q11.23 52722504 52723190 - 100287708 ABBA01052493;AL731537;AMYH01002736;NG_029973 pseudo 45025 VALIDATED 7206871 CCDC58P3 coiled-coil domain containing 58 pseudogene 3 18 p11.21 12211372 12212006 + 732448 ABBA01074011;AMYH01008830;AP005264;NG_030064 pseudo 45026 INFERRED 7206881 CCDC58P5 coiled-coil domain containing 58 pseudogene 5 11 73561510 73562252 - 100420588 ABBA01017504;AMYH01003811;AP002770;NG_024383 pseudo 45028 INFERRED 1606758 CCDC54 coiled-coil domain containing 54 3 3 3 q13.12 105492535 105493828 + 108578878 108580171 + 107096188 107097481 + 16138340;12477932;15257753 84692 Q8NEL0 ABBA01061712;AC063944;AF367469;AK058091;AMYH01013377;BC030780;CH471052;HC007188;NM_032600 AAH30780;AAK53405;ABM81755;ABM81756;ABM84911;BAB71661;CBH19399;EAW79746;NP_115989;Q8NEL0 Hs.164799 1720133;2219218 NYD-SP17__6095;RH123844 FLJ25362;NYD-SP17;SP17 OTTHUMP00000214257;coiled-coil domain-containing protein 54;sperm protein 17;testes development-related NYD-SP17;testis development protein NYD-SP17 protein-coding ENSG00000138483 30703 14860 PROVISIONAL 1606297 CCDC53 coiled-coil domain containing 53 12 12 12 q23.2 102070738 102119920 - 100930848 100980029 - 102406717 102455899 - 6480464 16189514;16169070;15489334;12477932;10931946;10810093;8125298;17207965;19060904;19922875;22939629 51019 F5GWI9;F5GXZ4;F5GXZ7;F5GZ97;F5H0A7;F5H2P1;H0YGN0;Q9Y3C0 ABBA01053232;AC079907;AF151874;AF155655;AI739611;AK223339;AK314970;AMYH01004704;BC010889;CH471054;CR457171;DB452335;FJ695207;NM_016053 AAD34111;AAF67012;AAH10889;ADQ33161;BAD97059;BAG37471;CAG33452;EAW97687;NP_057137;Q9Y3C0 Hs.405692 CGI-116 OTTHUMP00000238240;OTTHUMP00000238242;OTTHUMP00000238243;OTTHUMP00000238244;WASH complex subunit CCDC53;coiled-coil domain-containing protein 53 protein-coding ENSG00000120860 24256 13031 VALIDATED 1603982 CCDC47 coiled-coil domain containing 47 17 17 17 q23.3 56210730 56239209 - 59176342 59204668 - 61822610 61851088 - 6480464 21145461;17353931;16344560;16303743;15489334;14702039;12477932;8125298;16169070;20562859;22990118;21139048;21343306;21890473;21903422;21906983;22190034 57003 J3KRX4;Q96A33 ABBA01035321;ABBA01035322;AC015651;AF113221;AF226054;AK027786;AK027844;AK075387;AK225813;AK314328;AMYH01008549;BC001300;BC008905;BC013600;CH471109;CS051185;DB222124;NM_020198 AAF86954;AAG39292;AAH08905;AAH13600;ABM87572;BAB55367;BAB55407;BAC11587;BAG36975;CAI72088;EAW94279;EAW94280;EAW94281;EAW94282;NP_064583;Q96A33 Hs.202011 1648264;1657050;1676672;1699358;1734476;1739153;2172238 D17S1437E;D17S1628;RH103266;RH45286;RH47195;RH80257;SHGC-11242 GK001;MSTP041 coiled-coil domain-containing protein 47 protein-coding ENSG00000108588 24856 17041 VALIDATED 1606954 CCDC50 coiled-coil domain containing 50 This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 3 3 q28 192529568 192592658 + 191046874 191116459 + 6480464;7240710 18029035;17503326;17081983;16803894;15951569;15489334;15314609;14702039;14527723;12483295;12477932;19285159;17207965;16169070;18029348;19059208;19641524;20972266;21139048;21890473;21906983;21963094;23000965;18781797;20654576;21987572;20301607;22331027;22053931 152137 Q8IVM0 ABBA01058317;AC068645;AC073365;AJ416916;AJ557013;AK055652;AK092045;AK093660;AL512753;AMYH01013761;AMYH01013762;BC065004;CH471052;NG_008994;NM_174908;NM_178335 AAH65004;ADQ32531;CAC95196;CAD89526;EAW78089;EAW78090;NP_777568;NP_848018;Q8IVM0 Hs.478682 1336678;1340974;1644251;1648202;1651554;1653845;1657789;1689276;1692126;2115204;2146899;2156520;2165459;2165461;5037552;7187068 A001T04;AL033702;Cda0ce01;D3S1314;D3S2418;D3S3321;D3S4224;D8S2279;G19613;RH45920;RH92964;SHGC-32957;SHGC-77656;SHGC-77660;STS-N26778 C3orf6;DFNA44;YMER OTTHUMP00000209328;OTTHUMP00000209329;coiled-coil domain-containing protein 50;protein Ymer APPROVED protein-coding ENSG00000152492 18111 06463 607453;611051 REVIEWED 1605253 CCDC57 coiled-coil domain containing 57 17 17 17 q25.3 76681026 76765150 - 77652635 77763978 - 80059346 80170689 - 6480464 15851553;14702039;12477932;10737800;9110174;8619474;19913121;20628086;20379614;20682791 284001 E9PDF5;H7BYI8;J3KRQ8;J3KSU5;J3QQX7;K7N7D6;Q2TAC2 ABBA01019663;ABBA01019664;ABBA01019665;ABBA01019666;ABBA01019667;ABBA01019668;ABBA01019669;ABBA01019670;AC129510;AC132872;AC135056;AF007146;AK074059;AK074334;AK125941;AL137530;AMYH01008730;AMYH01008731;BC040264;BC110997;BE146089;CK431023;NM_198082 AAH40264;AAI10998;ACE86764;ACE87450;BAB84885;BAB85054;CAB70794;NP_932348;Q2TAC2 Hs.631724 1731044;1758059;1758425;1783518;5015619;5022588 D10S273;D11S3114;D5S1597E;SHGC-147232;SHGC-148294;SHGC-149799 FLJ00130;FLJ23754;FLJ43953;MGC102869 OTTHUMP00000179168;OTTHUMP00000184904;coiled-coil domain-containing protein 57 protein-coding ENSG00000176155 27564 08041;14150 VALIDATED 2290511 CCDC61 coiled-coil domain containing 61 19 19 19 q13.32 43303349 43326887 + 51190179 51213714 + 46498719 46521874 + 6480464 17081983;15057824;19913121;20628086;8889548 729440 F5GZQ6;M0QY15;M0QYL5;M0R0U9;Q9Y6R9 ABBA01040959;AC007785;AC011545;AMYH01009858;AW453013;BI819372;BQ184369;CA775840;CB852675;DR007040;GQ375050;NM_001267723 AAD38244;AAF98366;ACT79331;NP_001254652;Q9Y6R9 Hs.515479 1742029;1742045 GDB:189978;GDB:190005 coiled-coil domain-containing protein 61 protein-coding ENSG00000104983 33629 VALIDATED 1603186 CCDC64 coiled-coil domain containing 64 12 12 12 q24.23 120060761 120165412 + 118912031 119016682 + 120427648 120532299 + 6480464 19734545;20379614;21555518 92558 B4DNE7;B4DWL0;H0YHP2;H0YHW1;H0YIC1;Q6ZP65 ABBA01020092;ABBA01020093;ABBA01020094;AC004812;AC004815;AK129960;AK297888;AK301580;AMYH01004796;AMYH01004797;CH471054;HI574098;NM_207311;U88834 AAC83181;BAC85259;BAG60209;BAG63072;CBX47538;EAW98159;EAW98160;EAW98161;EAW98162;NP_997194;Q6ZP65 Hs.369763 1677987;2139597;2157833 D12S1222E;G15657;RH78107 BICDR-1;FLJ26450;H_267D11.1 BICD-related protein 1;OTTHUMP00000240729;WUGSC:H_267D11.1;bicaudal D-related protein 1;coiled-coil domain-containing protein 64A protein-coding ENSG00000135127 28095 14292 VALIDATED 1604240 CCDC58 coiled-coil domain containing 58 3 3 3 q21.1 120488064 120511702 - 123561126 123584764 - 122078436 122102074 - 6480464 15489334;12477932;20877624;20558539;20705733;21139048;21890473;21906983;19322201 131076 C9JBU9;C9JQ41;H7C525;Q4VC31 ABBA01016470;AC083798;AMYH01013430;BC054051;BC062725;BC109378;CH471052;NM_001017928 AAH62725;AAI09379;EAW79487;EAW79488;NP_001017928;Q4VC31 Hs.220594 FLJ33273 OTTHUMP00000215572;OTTHUMP00000215574;OTTHUMP00000215575;coiled-coil domain-containing protein 58 protein-coding ENSG00000160124 31136 18548 VALIDATED 1606017 CCDC59 coiled-coil domain containing 59 12 12 12 q21.31 82413647 82420144 - 81270220 81276330 - 82746083 82752584 - 6480464 11152647;17353931;16630564;14702039;12882447;12477932;11042152;8125298;17207965;16341674;16344560;21832049 29080 F8VNY5;Q9P031 ABBA01053471;AC083811;AF161477;AF213377;AK001156;AK225139;AL832749;AMYH01004622;BC020647;BG538660;BM846580;CH471054;DA666239;NM_014167;NR_033192 AAF29092;AAG43569;AAH20647;ADQ32217;BAA91524;EAW97379;EAW97380;NP_054886;Q9P031 Hs.582627 1654268;1685736;1723861;2109409;2119164 HSPC128_9574;RH118666;RH98258;SHGC-56799;STS-T48329 BR22;DKFZp686K1021;FLJ10294;HSPC128;TAP26 OTTHUMP00000243350;TTF-1-associated protein 26;TTF-1-associated protein BR2;coiled-coil domain-containing protein 59;thyroid transcription factor 1-associated protein 26 protein-coding ENSG00000133773 25005 13696 VALIDATED 1602176 CCDC60 coiled-coil domain containing 60 12 12 12 q24.23 119405646 119611925 + 118256900 118463235 + 119772517 119978852 + 6480464 18332876;17903295;16344560;15489334;12477932;8889548;21832049 160777 F5H2N8;F5H5H4;Q8IWA6 ABBA01020071;ABBA01020072;ABBA01020073;AC002070;AC084881;AK310830;AMYH01004789;AMYH01004790;BC040553;BM724243;CH471054;DB204596;NM_178499 AAH40553;ADZ15590;EAW98147;EAW98148;EAW98149;EAW98150;NP_848594;Q8IWA6 Hs.98188 1689566;1746769;1760359;1763673;1792142;2127421 G19120;G64758;PMC137543P4;RH92177;SHGC-141975;SHGC-147355 MGC39827 OTTHUMP00000239787;coiled-coil domain-containing protein 60 protein-coding ENSG00000183273 28610 11347 VALIDATED 1626601 CCDC64B coiled-coil domain containing 64B 16 16 16 p13.3 3283423 3291087 - 3017869 3025543 - 3077868 3085542 - 6480464 12477932;16196087 146439 A1A5D9 ABBA01026726;AC108134;AK307181;AL833717;AL833749;AMYH01007088;AMYH01007089;BC015446;BC128602;BG142147;CH471112;NM_001103175 A1A5D9;AAI28603;CAH56245;EAW85420;NP_001096645 Hs.513285 BICDR-2;MGC158069 BICD-related protein 2;bicaudal D-related protein 2;coiled-coil domain-containing protein 64B protein-coding ENSG00000162069 33584 VALIDATED 1604733 CCDC63 coiled-coil domain containing 63 12 12 12 q24.11 110911504 110972027 + 109769194 109829721 + 111284811 111345338 + 6480464 14702039;12477932;21270382;21372407;23364009 160762 B4DY03;G3V217;Q8NA47 ABBA01005123;ABBA01005124;ABBA01005125;ABBA01019875;ABBA01019876;AC002351;AC002375;AK093162;AK302207;AK310294;AMYH01004747;BC044815;BC064580;BC073147;CH471054;HC006984;NM_152591 AAH44815;AAH64580;AAH73147;BAC04081;BAG63565;CBH19297;EAW97941;EAW97942;NP_689804;Q8NA47 Hs.437141 FLJ35843;ODA5 OTTHUMP00000241468;OTTHUMP00000241469;OTTHUMP00000241470;coiled-coil domain-containing protein 63;outer row dynein assembly 5 homolog protein-coding ENSG00000173093 26669 08765 PROVISIONAL 1344180 CCDC6 coiled-coil domain containing 6 This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010] 10 10 q21 61218527 61336824 - 61548505 61666414 - 1580863;6480464;6907045;7240710 17353931;8058316;19487296;18474871;18226854;17420723;17081983;16964243;16344560;15302935;15144186;14712216;14702039;12477932;8889549;7753554;6745938;2406025;775355;18715871;22655027;1678508;2334411;2902563;3600795;8889548;16385451;18029348;19615732;19730683;20379614;20498639;22863883;23145146;22399611;19156129;21139048;21890473;21906983;19322201;22327623;22363533;22113938;23000965;23154560;23108047 8030 Q05CP8;Q16204 AA112388;ABBA01019456;AC023904;AC060231;AK024913;AK055515;AK056848;AK292593;AMYH01002767;BC022284;BC036757;BC064391;BM672399;CH471083;DA189501;DA923950;NG_027819;NM_005436;S72869 AAC60637;AAH22284;AAH36757;AAH64391;BAF85282;EAW54196;EAW54197;NP_005427;Q16204 Hs.591360 1688372;1710018;1716391;1735994;2110205;2218346;5037441 CCDC6_4525;D10S1283E;D10S170E;RH121376;RH64866;SHGC-82279;stb3m2.p1b D10S170;FLJ32286;H4;PTC;TPC;TST1 OTTHUMP00000019644;coiled-coil domain-containing protein 6;papillary thyroid carcinoma-encoded protein;protein H4 APPROVED protein-coding ENSG00000108091 18782 09064 188550;601985 REVIEWED 1603292 CCDC62 coiled-coil domain containing 62 12 12 12 q24.31 122851887 122906208 + 121825026 121877884 + 123259056 123311927 + 6480464 19165854;19126643;18563714;15489334;14702039;12477932;21292315;18029348 84660 F5H0F1;Q6P9F0 ABBA01060447;ABBA01060448;ABBA01060449;ABBA01060450;ABBA01060451;ABBA01060452;AC027290;AK097663;AK124633;AK292466;AMYH01004831;AMYH01004832;AW628007;AY009105;AY254201;BC060796;CD556476;CH471054;DB458565;NM_201435;NR_027918 AAG49396;AAH60796;AAP13075;BAC85909;BAF85155;BAG53505;EAW98344;EAW98345;NP_958843;Q6P9F0 Hs.592008 1684622;5015861;5022425;5037552;5109281;7185938 D10S16;D1S1425;D22S296;D8S2279;RH98639 CT109;ERAP75;FLJ25432;FLJ40344;TSP-NY;aaa OTTHUMP00000239373;OTTHUMP00000239374;OTTHUMP00000239611;aaa-protein;cancer/testis antigen 109;coiled-coil domain-containing protein 60;coiled-coil domain-containing protein 62;protein aaa;testis-specific protein TSP-NY protein-coding ENSG00000130783 30723 15575 613481 VALIDATED 1604557 CCDC65 coiled-coil domain containing 65 CCDC65 is a sperm tail protein that is posttranslationally modified during sperm capacitation (Zheng et al., 2006 [PubMed 17089017]).[supplied by OMIM, Mar 2008] 12 12 12 q13.12 48092267 48109838 + 47584197 47601625 + 49297893 49315359 + 6480464 17089017;16344560;14702039;12477932;8889548;21700706 85478 F8VR42;F8W0R6;Q8IXS2 ABBA01031493;ABBA01031494;AC073610;AF382188;AK093051;AK098529;AK302082;AK314623;AMYH01004435;AMYH01004436;BC039317;CA314956;CH471111;DB026303;NM_033124 AAH39317;AAK60542;BAC04035;BAC05324;BAG37189;BAG63469;EAW58020;EAW58021;NP_149115;Q8IXS2 Hs.512805 1683876 RH98468 FLJ25663;FLJ35732;NYD-SP28 OTTHUMP00000243694;OTTHUMP00000243695;OTTHUMP00000243697;coiled-coil domain-containing protein 65;testis development protein NYD-SP28 APPROVED protein-coding ENSG00000139537 29937 14867 611088 VALIDATED 1606948 CCDC67 coiled-coil domain containing 67 11 11 11 q21 90361768 90463143 + 92703531 92811284 + 93063883 93171636 + 6480464 16189514;12477932;22424883;23251661;22610074 159989 E9PIV7;E9PIY2;E9PJR5;E9PLL9;E9PLX9;E9PMP4;E9PPB2;Q05D60 ABBA01040045;ABBA01040046;ABBA01040047;AK058122;AK127973;AMYH01003952;AMYH01003953;AMYH01003954;AMYH01003955;AMYH01003956;AMYH01003957;AMYH01003958;AP003969;AP004242;BC017929;BC031247;BC050325;CH471065;DB449834;NM_181645 AAH17929;AAH31247;BAB71673;BAC87213;EAW66898;EAW66899;EAW66900;NP_857596;Q05D60 Hs.436625 2178962 D11S1160 FLJ25393 OTTHUMP00000235944;OTTHUMP00000235945;OTTHUMP00000235946;OTTHUMP00000235947;coiled-coil domain-containing protein 67 protein-coding ENSG00000165325 26344 08689 VALIDATED 1605241 CCDC66 coiled-coil domain containing 66 3 3 3 p14.3 56557122 56621599 + 56566231 56630876 + 56591184 56655864 + 6480464 17562024;16344560;14702039;12477932;8889548;20379614;22505724 285331 A2RUB6;C9JGU1;C9JYB8;F2Z2K6;F5H4H5;F8WB87;F8WCB1;F8WCY0;F8WDJ0 AA887479;ABBA01024444;ABBA01024445;ABBA01024446;ABBA01024447;AC098478;AC099781;AK095688;AK096754;AK125303;AL832556;AL832692;AL833326;AMYH01013207;AMYH01013208;BC047509;BC132827;BG484326;BU674751;CF994722;CU456552;DA017177;NM_001012506;NM_001141947;NR_024460 A2RUB6;AAH47509;AAI32828;BAC04607;BAG54180;NP_001012524;NP_001135419 Hs.476399 2151630;5015619;5109527;5124341 D11S3114;D3S2752E;D3S2886E;RH94001 DKFZp686C0433 OTTHUMP00000208578;OTTHUMP00000208579;OTTHUMP00000208583;coiled-coil domain-containing protein 66 protein-coding ENSG00000180376 27709 14569 VALIDATED 1353671 CCDC7 coiled-coil domain containing 7 10 10 10 p11.22 32499925 32628330 + 32775047 32903498 + 32735041 32863492 + 737633 12477932 19277478;16189514;15489334;14702039;21109960;16385451;20379614;22024937;22145905 221016 A6YT98;A6YT99;A6YTA0;Q5JTR9;Q96M83 ABBA01033381;AK057324;AK058148;AL354750;AL391839;AMYH01002223;BC022020;BC042672;BI462512;BX647771;CH471072;EF656618;EF656619;EF656620;NM_001026383;NM_145023 AAH22020;AAH42672;ABR88143;ABR88144;ABR88145;BAB71426;BAB71686;CAI46051;EAW85964;EAW85965;EAW85966;NP_001021554;NP_659460;Q96M83 Hs.585464 1647519;1679107;1680974;1682810;1700916;1709248 G23952;RH104085;RH40315;RH69539;RH99057;SHGC-85814 BioT2-A;BioT2-B;BioT2-C;DKFZp686N0559;FLJ32762;RP11-479G22.1 OTTHUMP00000019417;OTTHUMP00000019418;coiled-coil domain-containing protein 7 protein-coding ENSG00000216937 26533 10812 VALIDATED 1603313 CCDC69 coiled-coil domain containing 69 5 5 5 q33.1 146641931 146685003 - 150540806 150583847 - 150560613 150603654 - 6480464 14702039;12477932;8125298;20962590;23568457;21900206;23251661 26112 A6NI79;E5RK59;H0YB32;H0YBY5;Q7L2X4 ABBA01026265;AC008385;AC011342;AK023767;AK094658;AK225826;AK292841;AK298063;AL080169;AL713742;AMYH01015711;AY538626;BC013053;BC016647;BM927471;CH471062;NM_015621 A6NI79;AAH16647;AAS45488;BAB14672;BAF85530;BAG60356;CAB45757;EAW61682;EAW61683;NP_056436 Hs.655336 1773786;1780830;1849695;2135282;2179806;5014051 D5S2842;D8S2278;RH45592;SHGC-57158;WI-12039;bac52338S DKFZp434C171;FLJ13705 OTTHUMP00000160622;OTTHUMP00000224129;coiled-coil domain-containing protein 69 protein-coding ENSG00000198624 24487 13152 VALIDATED 1601959 CCDC68 coiled-coil domain containing 68 18 18 18 q21 49286315 49344306 - 50719791 50777635 - 52568740 52626739 - 6480464 15489334;15142679;12477932;11149944;17207965;21441570;22939629;21926974;23453885 80323 K7EN04;Q9H2F9 ABBA01056105;ABBA01056106;ABBA01056107;AC098848;AF273051;AI823801;AK058097;AK313793;AMYH01009015;AMYH01009016;BC029508;CH471096;NM_001143829;NM_025214 AAG34911;AAH29508;ADQ31668;BAG36530;EAW63013;EAW63014;EAW63015;NP_001137301;NP_079490;Q9H2F9 Hs.120790 2126574;2177097 SHGC-58160;STS-H02496 FLJ25368;SE57-1 CTCL tumor antigen se57-1;CTCL-associated antigen se57-1;OTTHUMP00000163560;coiled-coil domain-containing protein 68;cutaneous T-cell lymphoma associated antigen;cutaneous T-cell lymphoma-associated antigen se57-1 protein-coding ENSG00000166510 24350 18034 VALIDATED 1603195 CCDC70 coiled-coil domain containing 70 13 13 13 q14.3 33484752 33489009 + 51334118 51338373 + 52436117 52440372 + 6480464 11256614;15489334;15342556;15057823;14702039;12477932;11230166;8125298;17207965 83446 Q6NSX1 ABBA01051051;AK098719;AK225745;AL136887;AL162377;AMYH01005116;BC069691;BC069748;BC069770;BC069806;BP371671;CH471075;CS072272;NM_031290 AAH69691;AAH69748;AAH69770;AAH69806;ACE86850;ACE87537;ADQ32881;BAC05391;CAB66821;CAI93410;EAX08897;NP_112580;Q6NSX1 Hs.120573 5017753 CCDC70 DKFZp434K1172;FLJ25853 OTTHUMP00000018440;coiled-coil domain-containing protein 70 protein-coding ENSG00000123171 25303 13158 PROVISIONAL 6766706 CCDC74B-AS1 CCDC74B antisense RNA 1 (non-protein coding) 2147860;5037552 D8S2279;RH69556 miscrna VALIDATED 1601781 CCDC73 coiled-coil domain containing 73 11 11 11 p13 32770373 32962956 - 32580202 32772763 - 32623626 32781804 - 6480464 18519826;12601173;12477932;20379614 493860 A6H8Y7;H0YDV2;Q6ZRK6 AA521271;ABBA01060907;ABBA01060908;AK128159;AK131470;AL035400;AL049714;AL078477;AL096793;AMYH01003479;AW088759;AY211922;BC062749;BC146800;BU569581;CH471064;NM_001008391 AAH62749;AAI46801;AAI67796;AAO65175;BAC87304;BAD18615;EAW68216;NP_001008392;Q6ZRK6 Hs.706808 1660145;1703220;1734020;1737795 D11S2162;D11S3395;D11S4680;SGC31799 NY-SAR-79 OTTHUMP00000232448;coiled-coil domain-containing protein 73;sarcoma antigen NY-SAR-79 protein-coding ENSG00000186714 23261 17414 612328 VALIDATED 5489341 CCDC75P1 coiled-coil domain containing 75 pseudogene 1 3 3 p13 73314314 73315132 - 73231455 73232558 - 344709 ABBA01030963;AC138389;AMYH01013282;NG_022207 pseudo 42659 INFERRED 1601742 CCDC71 coiled-coil domain containing 71 3 3 3 p21.31 49157127 49161007 - 49174972 49178789 - 49199968 49203785 - 6480464 16344560;15489334;14702039;12477932;17403666;17207965;22797925 64925 Q8IV32 ABBA01024608;AC135506;AK022862;AK023691;AK098658;AMYH01013155;BC035516;BC071960;CH471055;DA613715;NM_022903 AAH35516;AAH71960;ADQ31800;BAB14278;BAB14642;EAW64960;NP_075054;Q8IV32 Hs.211472 FLJ12800;FLJ13629 2600016J21Rik;OTTHUMP00000210680;coiled-coil domain-containing protein 71 protein-coding ENSG00000177352 25760 08576 VALIDATED 1602288 CCDC71L coiled-coil domain containing 71-like 7 7 7 q22.3 101104196 101106638 - 106086385 106088827 - 106297211 106301634 - 6480464 14702039;12690205;12477932;12107410;8889549;21890473;21906983;22505724 168455 Q8N9Z2 AA191066;AACC02000004;ABBA01057922;AC004917;AI674055;AK021498;AK093350;AK098422;AMYH01017827;BC013906;BC032243;CA397148;CH236947;CK904414;NM_175884 AAH13906;BAC04142;EAL24398;NP_787080;Q8N9Z2 Hs.29692;Hs.633903 1848110;2163057 RH48695;WI-17564 C7orf74;FLJ11436;FLJ25556;FLJ36031;MGC16181 OTTHUMP00000226016;coiled-coil domain-containing protein 71L;hypothetical protein LOC168455;uncharacterized protein C7orf74 APPROVED protein-coding ENSG00000253276 26685 08202 VALIDATED 6766771 CCDC74B-AS1 CCDC74B antisense RNA 1 2 q21.2 130887196 130896986 + 12477932;21906983 285103 ABBA01017941;AC018804;AMYH01011050;AMYH01011051;BC036597;NR_033903 Hs.570106 APPROVED miscrna ENSG00000223760 44130 VALIDATED 1604765 CCDC74A coiled-coil domain containing 74A 2 2 2 q21.1 126010320 126016067 + 132001962 132007709 + 132285407 132291239 + 12477932;15815621;15489334;14702039;17207965;15489335;16344560 90557 C9IYK9;F1SW65;F1SW66;F5GZA4;F8WEI8;Q96AQ1 AB299086;AB299087;ABBA01028229;ABBA01028230;ABBA01028231;AC093838;AK097664;AK309113;AMYH01011102;BC016861;BC030744;BC063387;CS063590;CV023784;DA375407;NM_001258304;NM_001258305;NM_001258306;NM_138770 AAH16861;AAH30744;AAH63387;AAY14809;ADQ31761;BAC05137;BAK08536;BAK08537;CAI84530;NP_001245233;NP_001245234;NP_001245235;NP_620125;Q96AQ1 Hs.351461 2147860 RH69556 CCDC74AV2;CCDC74AV3;FLJ40345 OTTHUMP00000162445;OTTHUMP00000204205;coiled-coil domain-containing protein 74A protein-coding ENSG00000163040 25197 14274 VALIDATED 1605902 CCDC74B coiled-coil domain containing 74B 2 2 2 q21.1 124177086 124177399 - 130613332 130619101 - 130896856 130902707 - 6480464 15489334;14702039;12477932 91409 B8ZZB0;C9JC78;E7ESC5;E9PG54;F8WB40;F8WCQ0;H7C1C8;Q96LY2 ABBA01017941;AC018804;AI300820;AK057609;AK297246;AK302804;AL133619;AMYH01011051;BC067771;CD359923;NM_001258307;NM_207310 AAH67771;BAB71533;BAG59726;BAG64006;CAB63745;NP_001245236;NP_997193;Q96LY2 Hs.29383 2147860 RH69556 DKFZp434E2321 OTTHUMP00000162397;OTTHUMP00000204217;OTTHUMP00000204285;coiled-coil domain-containing protein 74B protein-coding ENSG00000152076 25267 08534 VALIDATED 1345830 CCDC78 coiled-coil domain containing 78 The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012] 16 16 16 p13.3 972747 976638 - 712583 716460 - 772582 776473 - 14702039;12477932;11157797;20237496;18029348;22818856 124093 H3BLT8;I3L158;Q8NAY7 ABBA01030353;AE006464;AK057178;AK091831;AK127495;AK128538;AK128575;AK298111;AK303991;AMYH01007003;AY439221;BC027941;BC042110;CH471112;DC341680;NG_032932;NM_001031737;Z98258 A2IDD5;AAH42110;AAK61249;AAR13900;BAC03757;BAC87006;BAC87488;BAG60396;BAG64908;EAW85734;EAW85735;EAW85736;EAW85737;EAW85738;EAW85739;EAW85740;EAW85741;EAW85742;EAW85743;EAW85744;EAW85745;NP_001026907 Hs.381943 C16orf25;CNM4;FLJ34512;JFP10;LA16c-444G9.2 OTTHUMP00000149990;OTTHUMP00000237752;chromosome 16 open reading frame 25;coiled-coil domain-containing protein 78 APPROVED protein-coding ENSG00000162004 14153 08174 614666;614807 VALIDATED 1351060 CCDC8 coiled-coil domain containing 8 This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011] 19 19 19 q13.32 43718552 43721888 - 51605925 51608681 - 46913586 46916919 - 737633;6480464 12477932 11256614;15489334;11230166;21737058;19389623;22084066;22156540;21572988;21139048;20301654;23018678 83987 G8IFA7;Q9H0W5 ABBA01040975;AC024584;AI301367;AK297668;AL136609;AMYH01009862;BC015648;BC025243;BG717344;BX096201;CH471126;JN703457;NG_031956;NM_032040 AAH25243;ACE86552;AET25567;BAG60030;CAB66544;EAW57418;NP_114429;Q9H0W5 Hs.744359;Hs.97876 3M3;DKFZp564K0322;PPP1R20;p90 OTTHUMP00000221906;coiled-coil domain-containing protein 8;p90;protein phosphatase 1, regulatory subunit 20 APPROVED protein-coding ENSG00000169515 25367 13009 614145;614205 REVIEWED 1605833 CCDC79 coiled-coil domain containing 79 16 16 16 q22.1 51297518 51343833 - 65346380 65393024 - 66788879 66835523 - 6480464 14702039;12477932 283847 J3KSG9;J3KT78;J3KTG9;Q8NA31 ABBA01025415;ABBA01025416;ABBA01025417;AC044802;AK093213;AMYH01007742;BC126109;NM_001136505 AAI26110;BAC04098;NP_001129977;Q8NA31 Hs.376505 1664357;1701462 Cda01h11;RH104363 FLJ35894 coiled-coil domain-containing protein 79 protein-coding ENSG00000249961 26675 08197 PROVISIONAL 1605353 CCDC81 coiled-coil domain containing 81 11 11 11 q14.2 83396384 83444761 + 85763426 85811798 + 86085778 86134151 + 6480464 12477932 60494 E9PMI9;Q6ZN84 ABBA01017322;AI073989;AK027167;AK131331;AK223168;AK298875;AMYH01003851;AP001148;BC126412;NM_001156474;NM_021827 AAI26413;BAB15681;BAD18491;BAD96888;BAG60992;NP_001149946;NP_068599;Q6ZN84 Hs.144913 1729794;2130612 D11S2619;D16S321 FLJ16339;FLJ23514 OTTHUMP00000235494;OTTHUMP00000235496;OTTHUMP00000235497;coiled-coil domain-containing protein 81 protein-coding ENSG00000149201 26281 08032 VALIDATED 1601842 CCDC77 coiled-coil domain containing 77 12 12 12 p13.33 2107358 2158930 + 384939 422069 + 498516 551808 + 6480464 16344560;15489334;14702039;12477932;21139048;22505724 84318 F5H0W5;F5H5Q8;Q9BR77 ABBA01048853;ABBA01048854;ABBA01048855;AC005844;AK027638;AK293165;AK308216;AK316029;AMYH01004166;BC006444;CH471116;CX784327;DA711064;DC331633;NM_001130146;NM_001130147;NM_001130148;NM_032358 AAH06444;BAB55255;BAG56709;BAH14400;EAW88967;EAW88968;EAW88969;NP_001123618;NP_001123619;NP_001123620;NP_115734;Q9BR77 Hs.631656 1668052;1693596;2167977 D12S1867;RH47557;SHGC-58503 MGC13183 OTTHUMP00000159504;OTTHUMP00000237747;OTTHUMP00000237749;OTTHUMP00000237750;coiled-coil domain-containing protein 77 protein-coding ENSG00000120647 28203 17485 VALIDATED 1606128 CCDC83 coiled-coil domain containing 83 11 11 11 q14.1-q14.2 82875432 82940333 + 85243792 85308699 + 85566144 85631051 + 6480464 14702039;12477932;17633455;17207965;22923163 220047 H0YDV3;Q8IWF9 ABBA01017331;ABBA01017332;AK093405;AK124113;AK314036;AMYH01003848;AP000974;AP003128;AY251167;BC040280;CH471076;HC007154;HC044677;NM_173556 AAH40280;AAP20064;ADQ31764;BAC04154;BAC85776;BAG36746;CBH19382;CBH30668;EAW75114;EAW75115;NP_775827;Q8IWF9 Hs.567774 1338704;1697286 D11S1979;RH102140 FLJ42119;HSD9;MGC34732 OTTHUMP00000234627;OTTHUMP00000234628;coiled-coil domain-containing protein 83 protein-coding ENSG00000150676 28535 14586 PROVISIONAL 1605892 CCDC85A coiled-coil domain containing 85A 2 2 2 p16.1 56251690 56453674 + 56264762 56466813 + 56411258 56613309 + 6480464 11572484;21102462;12477932;20379614;21900206 114800 Q96PX6 AB067499;ABBA01075280;ABBA01075281;ABBA01075282;ABBA01075283;AC007743;AC007744;AMYH01010368;BC131557;CH471053;NM_001080433 AAI31558;AAI56396;AAI57124;BAB67805;EAX00077;NP_001073902;Q96PX6 Hs.117136 1675953;1741323;1784132;2175598 GDB:180455;RH94185;SHGC-154452;SHGC-36792 KIAA1912 OTTHUMP00000201047;OTTHUMP00000201056;coiled-coil domain-containing protein 85A protein-coding ENSG00000055813 29400 PROVISIONAL 736330 CCDC80 coiled-coil domain containing 80 3 3 3 q13.2 110732063 110768628 - 113806097 113842667 - 112323407 112359977 - 6480464 18029348;18178152;15998583;15563452;15489334;15325258;14702039;12477932;11812002;8889548;21145461;16341674;21871888;21628590;209648;23042114 151887 C9J8I6;H7C5K4;Q76M96 AB052098;AB266387;ABBA01061660;AC048334;AF506819;AK075210;AK292881;AK304561;AL833034;AMYH01013392;AY333429;AY526612;AY548106;AY548107;AY726593;BC023639;BC042105;BC042128;BC073164;BC086876;BC110842;BC116178;BC116179;BM787873;BX647117;BX647817;CH471052;NM_199511;NM_199512 AAH42105;AAH73164;AAH86876;AAI10843;AAI16179;AAM33633;AAQ96742;AAS66643;AAS66644;AAS92235;BAC11475;BAD05134;BAF48770;BAF85570;BAG65354;CAH56167;CAH56178;CAH56325;EAW79663;EAW79664;EAW79665;NP_955805;NP_955806;Q76M96 Hs.477128 1687610;1698522;1777918;1854863;2130462;5017785;5111490 CCDC80;D3S3894;RH102812;RH80490;SHGC-77203;SHGC-77206;STS-N24008 DRO1;MGC131805;MGC134851;SSG1;URB;okuribin OTTHUMP00000214595;OTTHUMP00000214596;OTTHUMP00000214599;coiled-coil domain-containing protein 80;down-regulated by oncogenes protein 1;nuclear envelope protein okuribin;steroid sensitive gene 1;up-regulated in BRS-3 deficient mouse homolog protein-coding ENSG00000091986 30649 10508 608298 VALIDATED 1602861 CCDC82 coiled-coil domain containing 82 11 11 11 q21 93386131 93423283 - 95725590 95762709 - 96085929 96123083 - 6480464 17353931;17081983;16344560;15489334;14702039;12477932;11042152;10931946;8889548 79780 E9PMD6;F5H777;Q8N4S0 ABBA01040006;AF161533;AF245436;AK027171;AK056790;AK074306;AK313893;AK314669;AMYH01003973;AP000848;AP003781;BC018663;BC033726;BM678039;BU742709;CH471065;DA801410;NM_024725 AAF29020;AAG44484;AAH18663;AAH33726;ACE86639;ACE87321;ADZ15672;BAB15683;BAG36616;BAG37226;BAG51809;EAW66979;EAW66980;EAW66981;EAW66982;EAW66983;EAW66984;EAW66985;NP_079001;Q8N4S0 Hs.525088 2126034 STS-R68789 FLJ23518;HSPC048 HSPC048 protein;OTTHUMP00000236426;OTTHUMP00000236427;coiled-coil domain-containing protein 82 protein-coding ENSG00000149231 26282 08033 VALIDATED 1605406 CCDC85B coiled-coil domain containing 85B Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 62981782 62983013 + 65414451 65415682 + 65657875 65659106 + 6480464 16189514;17014843;16713569;15644333;15489334;12477932;9115212;8848724;8810253;15605074;17873903;17207965;23128233 11007 Q15834 ABBA01024097;AI583181;AK312109;AMYH01003727;AP006287;BC008796;CH471076;NM_006848;U63825 AAB05928;AAH08796;ADQ32425;BAG35045;EAW74468;NP_006839;Q15834 Hs.66713 1668826;2158918 RH47013;STS-U63825 DIPA OTTHUMP00000234060;coiled-coil domain-containing protein 85B;delta-interacting protein A;hepatitis delta antigen interacting protein A;hepatitis delta antigen-interacting protein A APPROVED protein-coding ENSG00000175602 24926 16101 605360 VALIDATED 1602413 CCDC84 coiled-coil domain containing 84 This gene encodes a protein thought to contain a coiled coil motif. No function has been determined for the encoded protein. A pseudogene of this gene is located on chromosome 20. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 11 11 11 q23.3 116026304 116043591 + 118374062 118391665 + 118868852 118886455 + 6480464 15489334;12477932;8889548 338657 E9PJ16;E9PPT8;Q86UT8 AB094093;ABBA01039681;ABBA01039682;AMYH01004080;AP003392;AW014772;BC126469;BC126471;BC144208;BC144209;BC144210;BG251503;BU733365;CH471065;DB565963;HY073607;NM_198489;NR_104049;NR_104050;NR_104051 AAI26470;AAI26472;ADR83140;BAC76047;EAW67422;EAW67423;EAW67424;NP_940891;Q86UT8 Hs.534613 1697318;1701242;1738125 D11S3747;RH102156;RH104249 DLNB14 OTTHUMP00000232693;coiled-coil domain-containing protein 84 protein-coding ENSG00000186166 30460 13234 REVIEWED 1344482 CCDC85C coiled-coil domain containing 85C 14 14 14 q32.31 80032485 80125607 - 99046540 99140110 - 99977603 100070727 - 6480464 16344560;15489334;14702039;12508121;12477932;11181995;20360068 317762 A6NKD9;G3V2D7;G3V4C8;G3V5D5;H0YJE0;H0YJY5 ABBA01048555;ABBA01048556;ABBA01048557;ABBA01048558;AK026211;AK093969;AK096927;AK123840;AL110504;AL160313;AMYH01005993;AMYH01005994;AMYH01005995;BC029998;BC031990;BC110042;NM_001144995 A6NKD9;BAB15395;BAC04260;NP_001138467 Hs.709288 1657376;1660974;1661577;1697236;1730323;1773588;1797354;1849208;2141700;2149968;2184709;5093876;7187556 A009Y14;AFMB048YF1;CCNK_1614.3;D14S90E;G32976;G35001;G35350;G35787;RH102112;RH1621;RH44755;RH69937 FLJ22558;MGC117455 OTTHUMP00000246255;OTTHUMP00000246257;OTTHUMP00000246259;coiled-coil domain-containing protein 85C protein-coding ENSG00000205476 35459 VALIDATED 1604295 CCDC86 coiled-coil domain containing 86 11 11 11 q12.2 57970276 57979408 + 60366005 60375137 + 60609429 60618561 + 6480464 17300783;16344560;15302935;12477932;16169070;15607035;16751776;19913121;20628086;19851296;20198315;18029348;22586326;21890473 79080 B4DY99;H0YG79;Q9H6F5 ABBA01021516;AI018490;AK025974;AK123775;AK302329;AMYH01003668;AP000777;BC001378;BE795888;CH471076;DA292314;DQ501251;DQ587658;NM_024098 AAH01378;ABF68612;ABM83529;ABM86770;BAB15304;BAC85689;BAG63661;EAW73901;NP_077003;Q9H6F5 Hs.4253 1680693;2144223;2151624 IB1021;RH11821;RH67900 FLJ22321;MGC2574 OTTHUMP00000236554;OTTHUMP00000236805;coiled-coil domain-containing protein 86;cyclon;cytokine-induced protein with coiled-coil domain protein-coding ENSG00000110104 28359 08322 611293 VALIDATED 1346283 CCDC90AP1 coiled-coil domain containing 90A pseudogene 1 17 17 p13.3 2046744 2047594 - 2030722 2031572 - 53383 ABBA01054693;AC090617;AMYH01008008;NG_026139 C17orf23 hypothetical protein LOC53383;uncharacterized protein LOC53383 APPROVED pseudo 1217 INFERRED 1602481 CCDC87 coiled-coil domain containing 87 11 11 q13.2 66114216 66117130 - 66357640 66360554 - 6480464 16189514;14702039;12477932;17643375;21926972 55231 Q9NVE4 ABBA01024072;AI391530;AK001648;AMYH01003735;AP001157;BC034469;NG_008733;NM_018219 AAH34469;BAA91808;NP_060689;Q9NVE4 Hs.121072 FLJ10786 OTTHUMP00000235517;coiled-coil domain-containing protein 87 protein-coding ENSG00000182791 25579 07699 VALIDATED 1348427 CCDC9 coiled-coil domain containing 9 19 19 19 q13.32 44563607 44579090 + 52451632 52467050 + 47759731 47775210 + 737633;6480464 12477932 16341674;15489334;15302935;11256614;11230166;20360068;21044950 26093 B4DXW2;M0QYB4;M0QZR0;M0R2W0;Q9Y3X0 ABBA01041018;ABBA01041019;AC008532;AK302153;AL050284;AMYH01009880;AMYH01009881;AMYH01009882;BC002787;BC009743;BM737911;CH471126;CR977312;NM_015603 AAH02787;AAH09743;ADZ15464;BAG63524;CAB43385;EAW57468;NP_056418;Q9Y3X0 Hs.227782 2109115 CCDC9_9457 DKFZp586M1019 coiled-coil domain-containing protein 9 protein-coding ENSG00000105321 24560 10813 VALIDATED 1604894 CCDC88C coiled-coil domain containing 88C This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013] 14 14 14 q32.11 71786122 71932885 - 90807420 90953886 - 91737667 91884188 - 6480464;7240710 14750955;17185515;14702039;12477932;10819331;9110174;8619474;22558309;16751776;21031079;23042809;21900206;21832049;23184937 440193 B4DZB8;G3V3S0;H0YJX5;Q0P665;Q9P219 ABBA01030480;ABBA01030481;AF070587;AK022593;AK302839;AL133153;AL135818;AL137353;AL833046;AMYH01005951;AMYH01005952;BC028565;BC032316;BC035914;BX248302;BX283171;CH471061;CR747498;CR998718;DC402942;DR006516;EG328265;NG_033118;NM_001080414 AAH28565;AAH32316;AAH35914;ADZ15600;BAB14119;BAG64030;CAD62629;CAH10602;EAW81451;NP_001073883;Q9P219 Hs.525536 1656232;1731615;1736396;1777937;2139690;2148386;2150755;2154353;2169864 D14S169;D14S655E;FB17H5;G35614;G35778;G36140;SHGC-32353;SHGC-63659;WI-21906 DAPLE;FLJ00354;HYC;HkRP2;KIAA1509 Dvl-associating protein with a high frequency of leucine residues;OTTHUMP00000245079;coiled-coil domain-containing protein 88C;hDaple;hook-related protein 2;protein Daple protein-coding ENSG00000015133 19967 236600;611204 REVIEWED 1603867 CCDC88B coiled-coil domain containing 88B This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009] 11 11 11 q12.3 61433773 61451010 + 63864271 63881582 + 64107690 64125006 + 6480464 22837380;14667819;15882442;14702039;12477932;11230166;21289099;20936779;23128233 283234 A6NC98;B2RTU8;H7BY33 ABBA01003298;ABBA01003299;ABBA01003300;AK074126;AK090436;AK095289;AK126728;AL136799;AMYH01003706;AP003774;AY491401;BC030194;BC040232;BC140822;BC140824;BC141866;BC151218;BC151222;BE222756;NM_032251 A6NC98;AAH40232;AAI40823;AAI40825;AAI41867;AAR83719;BAB84952;BAC03417;CAB66733;NP_115627 Hs.98564 1769054;5109281;5119447 D1S1425;D20S984;G33078 BRLZ;CCDC88;DKFZp434G0920;FLJ00354;FLJ37970;HkRP3;gipie 78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress;GRP78-interacting protein induced by ER stress;OTTHUMP00000042630;brain leucine zipper domain-containing protein;brain leucine zipper protein;coiled-coil domain-containing protein 88B;hook-related protein 3 APPROVED protein-coding ENSG00000168071 26757 10986 611205 REVIEWED 1347801 CCDC88A coiled-coil domain containing 88A This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 p16.1 55368482 55500467 - 55514978 55647057 - 6480464 16139227;15882442;15749703;19211784;18663145;18316593;18264090;16344560;15753085;14702039;12477932;10574462;20515748;20974669;20157114;20379614;20936779;20462955;16751776;21209316;23066027;22714912;22755556;23195430;22990118;21799016;14676191;20132219;21954290;22020337;23051738;23349634;17043677;21998595;21139048;21906983;22308453;22574214;22116776;23184937;22780975 55704 B3KW94;C9J225;H0Y470;H0Y7K3;H0Y7U8;H7C2C6;O14997;Q7Z3C5 AB033038;AB125644;AB201172;ABBA01075266;ABBA01075267;AC012358;AC019198;AC092176;AF112218;AK001254;AK024717;AK025723;AK124603;AK124761;AK299823;AK307964;AL036590;AMYH01010362;AV728179;BC014905;BC015539;BC032683;BC035848;BC041160;BC045829;BC056885;BC060037;BC078168;BC092515;BC132736;BC142646;BC142700;BC144320;BU570532;BX537985;BX538154;BX647874;BX648138;CH471053;D64159;DA488073;NG_031944;NM_001135597;NM_001254943;NM_018084 AAF17206;AAH41160;AAH60037;AAH78168;AAI32737;AAI44321;AAX82029;AAY14932;BAA21515;BAA86526;BAA91584;BAE44387;BAF44475;BAG54056;BAG61692;CAD97945;CAD98038;CAI46020;EAX00099;EAX00100;EAX00101;NP_001129069;NP_001241872;NP_060554;Q3V6T2 Hs.292925 1665144;1665146;1668830;1670106;1673326;1676962;1682934;1690326;1717507;1778129;5016700;5020946;5022200;5022450;5037552;5037554;5126408;7186386 A006B27;D10S275;D2S1285;D2S137;D8S2279;D8S2282;G20678;L17971;L18426;RH122259;RH12571;RH69376;RH79802;RH79821;RH92651;RH93856;UniSTS:15027;WI-22280 APE;DKFZp686D0630;GIRDIN;GIV;GRDN;HkRP1;KIAA1212 AKT-phosphorylation enhancer;Galpha-interacting vesicle-associated protein;G{alpha}-interacting vesicle-associated protein;Hook-related protein 1;OTTHUMP00000200778;OTTHUMP00000201690;akt phosphorylation enhancer;coiled-coil domain-containing protein 88A;g alpha-interacting vesicle-associated protein;girders of actin filament;girders of actin filaments;girdin APPROVED protein-coding ENSG00000115355 25523 10051;11131 609736 REVIEWED 1602421 CCDC89 coiled-coil domain containing 89 11 11 11 q14.1 82704196 82706623 - 85072541 85074968 - 85394893 85397320 - 6480464 15489334;15188402;14702039;12477932 220388 Q8N998 ABBA01017336;AK095478;AMYH01003848;AP000642;BC044814;CH471076;NM_152723 AAH44814;BAC04556;EAW75106;NP_689936;Q8N998 Hs.376241 FLJ38159 OTTHUMP00000234605;bc8 orange-interacting protein;coiled-coil domain-containing protein 89 protein-coding ENSG00000179071 26762 08234 PROVISIONAL 1605354 CCDC90B coiled-coil domain containing 90B 11 11 11 q14.1 80282156 80307022 - 82650150 82675025 - 82972506 82997377 - 6480464 16169070;14702039;12477932;11256614;11230166;8125298;18029348;20877624;21900206 60492 B3KP87;E9PKQ5;E9PMQ7;E9PNI8;E9PPJ7;E9PRC2;E9PSG6;H0YD95;H0YF06;J3KN19;Q9GZT6 ABBA01017362;AF182412;AF182424;AF271782;AK055972;AK225726;AK304769;AK315787;AL136791;AMYH01003839;AP000873;BC014573;BC017771;BC020783;BC032701;BC048795;BC067764;BC107755;CH471076;NM_021825 AAG14948;AAG14960;AAG44793;AAH14573;AAH20783;AAI07756;BAG38133;BAG51599;BAG65524;CAB66725;EAW75088;EAW75089;EAW75090;EAW75091;NP_068597;Q9GZT6 Hs.368866 1645423;1772126;1846803;2129424;2135953;2152060 A004O44;A006K03;D11S2267E;SHGC-50338;WI-13569;WI-13893 MDS011;MDS025;MGC104239 OTTHUMP00000235040;OTTHUMP00000235041;OTTHUMP00000235042;OTTHUMP00000235044;OTTHUMP00000235081;OTTHUMP00000235083;coiled-coil domain-containing protein 90B, mitochondrial protein-coding 28108 14378 PROVISIONAL 1604596 CCDC92 coiled-coil domain containing 92 12 12 12 q24.31 124020731 124056999 - 122986908 123023116 - 124420955 124457163 - 6480464 15489334;14702039;12477932;16169070;17207965;20936779;19936222;8125298;19322201;20686565 80212 B3KNQ0;F5GXK2;F5H285;F5H2Z7;F5H7P8;Q53HC0 AB015292;ABBA01060388;AC068790;AC079315;AK026124;AK054680;AK124358;AK125866;AK222661;AMYH01004842;BC017186;CH471054;NM_025140 AAH17186;ADQ32283;BAB15366;BAB82436;BAD96381;BAG51412;BAG54259;EAW98438;EAW98439;EAW98440;NP_079416;Q53HC0 Hs.713131 1657279;1660601;1665799;1697910;1772200;1782522;2106787;2106789 A004O46;D12S2066;GC32S03;GC32S043;RH102483;SHGC-104021;STS-Z41302;WI-12482 FLJ22471 OTTHUMP00000239286;OTTHUMP00000239293;OTTHUMP00000239295;coiled-coil domain-containing protein 92;limkain beta 2;limkain beta-2 protein-coding ENSG00000119242 29563 16919 PROVISIONAL 1602452 CCDC97 coiled-coil domain containing 97 19 19 19 q13.2 38616246 38630939 + 46507934 46522628 + 41816094 41830788 + 6480464 14702039;12477932;19692168;20936779;16055720;20360068 90324 M0QXS4;M0QZY6;Q96F63 ABBA01040803;AC011462;AK097586;AL833726;AMYH01009819;BC007575;BC011577;BC019597;CH471126;CS674264;CS805737;HC919734;HC919945;NM_052848 AAH07575;AAH11577;CAH56251;CAP12292;CAP40173;CBN73464;CBN73469;EAW57030;EAW57031;NP_443080;Q96F63 Hs.437497 1852267 WI-14864 FLJ40267;MGC20255 coiled-coil domain-containing protein 97 protein-coding ENSG00000142039 28289 14467 PROVISIONAL 1605359 CCDC91 coiled-coil domain containing 91 12 12 12 p11.22 33556106 33849062 + 28301400 28594366 + 28410133 28703099 + 6480464 17596511;15489334;14702039;12858163;12808037;12477932;8889548;16189514;20379614;20808825;22990118;18029348;21139048;20881960;23251661 55297 F5GWB1;F5GWR1;F5GXK6;F5GZH9;F5H3Z8;F5H4N8;H0YFR6;H0YGB4;H0YGN9;H0YH48;H0YH50;Q05D28;Q7Z6B0 ABBA01068060;ABBA01068061;AC022079;AC024939;AC046131;AC084754;AK001950;AK093152;AK309181;AL570537;AMYH01004354;AMYH01004355;AMYH01004356;AMYH01004357;AY251168;AY289196;BC018679;BC028682;BU739164;CH471094;CR457277;CR749586;NM_018318 AAH18679;AAH28682;AAP20065;AAP42284;BAA91995;BAG52665;CAG33558;CAH18385;EAW96579;EAW96580;EAW96581;EAW96582;NP_060788;Q7Z6B0 Hs.653125 1697544;1725907;1725943;1726009;1726075;2146799 G62260;G62295;G62326;G62361;RH102279;SGC44230 DKFZP779L1558;FLJ11088;HSD8;p56 GGA binding partner;GGA-binding partner;OTTHUMP00000240176;OTTHUMP00000240177;OTTHUMP00000240178;OTTHUMP00000240181;coiled-coil domain-containing protein 91;p56 accessory protein protein-coding ENSG00000123106 24855 16905 VALIDATED 1603997 CCDC94 coiled-coil domain containing 94 19 19 19 p13.3 4186494 4208470 + 4198111 4220085 + 4247111 4269085 + 6480464 17081983;15489334;14702039;12477932;21139048 55702 M0R2S3;Q9BW85 ABBA01056081;AC005578;AC008616;AF091080;AK001236;AK023988;AMYH01009329;BC000561;BC019096;CH471139;NM_018074 AAC33489;AAC72949;AAH00561;AAH19096;BAA91572;BAB14757;EAW69242;EAW69243;NP_060544;Q9BW85 Hs.21811 1697712;1734680 D19S685E;RH102374 FLJ10374 coiled-coil domain-containing protein 94 protein-coding ENSG00000105248 25518 08546 PROVISIONAL 1606687 CCER1 coiled-coil glutamate-rich protein 1 12 12 12 q21.33 91017121 91020082 - 89870123 89873084 - 91345992 91348953 - 6480464 16189514;12477932;17967063 196477 H0YHB9;Q8TC90 ABBA01053409;AC078873;AMYH01004652;BC024183;BC026075;BC027600;BC034491;CH471054;HC006804;HC044817;NM_152638 AAH24183;AAH26075;AAH27600;AAH34491;CBH19208;CBH30738;EAW97443;NP_689851;Q8TC90 Hs.128574 1687427;1698356 RH102719;RH98621 C12orf12;MGC26598 OTTHUMP00000242884;coiled-coil domain-containing glutamate-rich protein 1;hypothetical protein LOC196477;uncharacterized protein C12orf12 APPROVED protein-coding ENSG00000197651 28373 14505 PROVISIONAL 1603873 CCDC96 coiled-coil domain containing 96 4 4 4 p16.1 6945993 6948145 - 7093477 7095629 - 7042576 7044728 - 6480464 16344560;15489334;14702039;12477932 257236 Q2M329 ABBA01012736;AC097382;AK075056;AMYH01013921;BC105055;BC112274;BQ009685;CH471131;CQ783834;DB045256;NM_153376 AAI05056;AAI12275;ADR83062;BAC11373;CAF86884;EAW82373;NP_699207;Q2M329 Hs.656757 2187599 RH36525 FLJ90575;MGC138479 OTTHUMP00000155166;coiled-coil domain-containing protein 96 protein-coding ENSG00000173013 26900 08297 VALIDATED 1603642 CCDC93 coiled-coil domain containing 93 2 2 2 q14.1 112000384 112098933 - 118389617 118488167 - 118673054 118771739 - 6480464 16381901;15815621;15489336;15489334;14702039;12477932;11076863;9110174;8619474;16344560;17043677;21139048;21906983;21628590;22070227;22797925 54520 F8W9X7;H7C050;Q567U6 AB209993;ABBA01045944;ABBA01045945;AC009303;AC009404;AF070582;AK001858;AK025611;AK057926;AK124683;AK290722;AK309040;AL050001;AMYH01010985;AY726577;BC005078;BC012052;BC028609;BC080559;BC093018;BU621185;CH471103;DB084596;NM_019044 AAH28609;AAH93018;AAX88948;AAX88949;AAX93279;BAA91945;BAB15188;BAE06075;BAF83411;CAL38066;CAL38380;CAL38575;EAW95197;EAW95198;NP_061917;Q567U6 Hs.107845 1651386;1661116;1676924;1798342;1798378;1798560;1798802;1798882;1798942;1800812;1800936;1801036;1801090;1801544;1802924;1804358;1804794;1805802;1805962;1806366;1806424;1806646;1806836;1806896;1806898;1808536;1808672;1808978;1809094;1809334;1809644;1810202;1810364;1810500;1810866;1810938;1811086;1811552;1812044;1812114;1812656;1813026;1813892;1814220;1814712;1814714;1815558;1818684;1818950;1818952;1819268;1819338;1819742;1819940;1819942;1820424;1820564;1820862;1821082;1821218;1821346;1821970;1822042;1822044;1822186;1822320;1822614;1822920;1823144;1823196;1823608;1823770;1824200;1824510;1824822;1825152;1826342;1827250;1827502;1828908;1829714;1830082;1830142;1830494;1830756;1830956;1831004;1831654;1832178;1832962;1833386;1833696;1834572;1835154;1837576;1837774;1838018;1838650;1838764;1838896;1839744;1841348;1841826;1843412;1843842;1843934;1844244;1844772;1844816;1844972;1845456;1845868;1852888;1878532;1878534;1878536;1878538;1878540;1878542;1878544;1878546;1878548;1878550;1878552;1878554;1878556;1878558;1878560;1878562;1878564;1878566;1878568;1878570;1878572;1878574;1878576;1878578;1878580;1878582;1878584;1878586;1878588;1878590;1878592;1878594;1878596;1878598;1878600;1878602;1878604;1878606;1878608;1878610;1878612;1878614;1878616;1878618;1878620;1878622;1878624;1878626;1878628;1878630;1878632;1878634;1878636;1878638;1878640;1878642;1878644;1878646;1878648;1878650;1878652;1878654;1878656;1878658;1878660;1878662;1878664;1878666;1878668;1878670;1878672;1878674;1878676;1878678;1878680;1878682;1878684;1878686;1878688;1878690;1878692;1878694;1878696;1878698;1878700;1878702;1878704;1878706;1878708;1878710;1878712;1878714;1878716;1878718;1878720;1878722;1878724;1878726;1878728;1878730;1878732;1878734;1878736;1878738;1878740;1878742;1878744;1878746;1878748;1878750;1878752;1878754;1878756;1878758;1878760;1878762;1878764;1878766;1878768;1878770;1878772;1878774;1878776;1878778;1878780;1878782;1878784;1878786;1878788;1878790;1878792;1878794;1878796;1878798;1878800;1878802;1878804;1878806;1878808;1878810;1878812;1878814;1878816;1878818;1878820;1878822;1878824;1878826;1878828;1878830;1878832;1878834;1878836;1878838;1878840;1878842;1878844;1878846;1878848;1878850;1878852;1878854;1878856;1878858;1878860;1878862;1878864;1878866;1878868;1878870;1878872;1878874;1878876;1878878;1878880;1878882;1878884;1878886;1878888;1878890;1878892;1878894;1878896;1878898;1878900;1878902;1878904;1878906;1878908;1878910;1878912;1878914;1878916;1878918;1878920;1878922;1878924;1878926;1878928;1878930;1878932;1878934;1878936;1878938;1878940;1878942;1878944;1878946;1878948;1878950;1878952;1878954;1878956;1878958;1878960;1878962;1878964;1878966;1878968;1878970;1878972;1878974;1878976;1878978;1878980;1878982;1878984;1878986;1878988;1878990;1878992;1878994;1878996;1878998;1879000;1879002;1879004;1879006;1879008;1879010;1879012;1879014;1879016;1879018;1879020;1879022;1879024;1879026;1879028;1879030;1879032;1879034;1879036;1879038;1879040;1879042;1879044;1879046;1879048;1879050;1879052;1879054;1879056;1879058;1879060;1879062;1879064;1879066;1879068;1879070;1879072;1879074;1879076;1879078;1879080;1879082;1879084;1879086;1879088;1879090;1879092;1879094;1879096;1879098;1879100;1879102;1879104;1879106;1879108;1879110;1879112;1879114;1879116;1879118;1879120;1879122;1879124;1879126;1879128;1879130;1879132;1879134;1879136;1879138;1879140;1879142;1879144;1879146;1879148;1879150;1879152;1879154;1879156;1879158;1879160;1879162;1879164;1879166;1879168;1879170;1879172;1879174;1879176;1879178;1879180;1879182;1879184;1879186;1879188;1879190;1879192;1879194;1879196;1879198;1879200;1879202;1879204;1879206;1879208;1879210;1879212;1879214;1879216;1879218;1879220;1879222;1879224;1879226;1879228;1879230;1879232;1879234;1879236;1879238;1879240;1879242;1879244;1879246;1879248;1879250;1879252;1879254;1879256;1879258;1879260;1879262;1879264;1879266;1879268;1879270;1879272;1879274;1879276;1879278;1879280;1879282;1879284;1879286;1879288;1879290;1879292;1879294;1879296;1879298;1879300;1879302;1879304;1879306;1879308;1879310;1879312;1879314;1879316;1879318;1879320;1879322;1879324;1879326;1879328;1879330;1879332;1879334;1879336;1879338;1879340;1879342;1879344;1879346;1879348;1879350;1879352;1879354;1879356;1879358;1879360;1879362;1879364;1879366;1879368;1879370;1879372;1879374;1879376;1879378;1879380;1879382;2119624;2131122;2199714;2199716;2199718;2199720;2199722;2199724;2199726;2199728;2199730;2199732;2199734;2199736;2199738;2199740;2199742;2199744;2199746;2199748;2199750;2199752;2199754;2199756;2199758;2199760;2199762;2199764;2199766;2199768;2199770;2199772;2199774;2199776;2199778;2199780;2199782;2199784;2199786;2199788;2199790;2199792;2199794;2199796;2199798;2199800;2199802;2199804;2199806;2199808;2199810;2199812;2199814;2199816;2199818;2199820;2199822;2199824;2199826;2199828;2199830;2199832;2199834;2199836;2199838;2199840;2199842;2199844;2199846;2199848;2199850;2199852;2199854;2199856;2199858;2199860 A004X42;ECD00006;ECD00025;ECD00119;ECD00241;ECD00281;ECD00312;ECD01268;ECD01333;ECD01385;ECD01414;ECD01650;ECD02351;ECD03103;ECD03330;ECD03852;ECD03934;ECD04138;ECD04168;ECD04280;ECD04383;ECD04413;ECD04414;ECD05250;ECD05318;ECD05472;ECD05535;ECD05658;ECD05814;ECD06093;ECD06174;ECD06243;ECD06431;ECD06467;ECD06541;ECD06779;ECD07027;ECD07062;ECD07338;ECD07532;ECD07973;ECD08139;ECD08387;ECD08388;ECD08815;ECD10406;ECD10540;ECD10541;ECD10701;ECD10736;ECD10941;ECD11041;ECD11042;ECD11287;ECD11357;ECD11507;ECD11618;ECD11686;ECD11756;ECD12071;ECD12107;ECD12108;ECD12179;ECD12248;ECD12395;ECD12548;ECD12660;ECD12687;ECD12896;ECD12977;ECD13197;ECD13353;ECD13510;ECD13677;ECD14284;ECD14740;ECD14867;ECD15581;ECD15989;ECD16174;ECD16204;ECD16382;ECD16514;ECD16614;ECD16638;ECD16964;ECD17227;ECD17622;ECD17836;ECD17993;ECD18434;ECD18732;ECD19955;ECD20057;ECD20180;ECD20499;ECD20560;ECD20627;ECD21055;ECD21870;ECD22114;ECD22915;ECD23132;ECD23179;ECD23335;ECD23602;ECD23624;ECD23702;ECD23946;ECD24153;REN10000;REN10001;REN10002;REN10003;REN10004;REN10005;REN10006;REN10007;REN10008;REN10009;REN10010;REN10011;REN10012;REN10013;REN10014;REN10015;REN10016;REN10017;REN10018;REN10019;REN10020;REN10021;REN10022;REN10023;REN10024;REN10025;REN10026;REN10027;REN10028;REN10029;REN10030;REN10031;REN10032;REN10033;REN10034;REN10035;REN10036;REN10037;REN10038;REN10039;REN10040;REN10041;REN10042;REN10043;REN10044;REN10045;REN10046;REN10047;REN10048;REN10049;REN10050;REN10051;REN10052;REN10053;REN10054;REN10055;REN10056;REN10057;REN10058;REN10059;REN10060;REN10061;REN10062;REN10063;REN10064;REN10065;REN10066;REN10067;REN10068;REN10069;REN10070;REN10071;REN10072;REN10073;REN10074;REN10075;REN10076;REN10077;REN10078;REN10079;REN10080;REN10081;REN10082;REN10083;REN10084;REN10085;REN10086;REN10087;REN10088;REN10089;REN10090;REN10091;REN10092;REN10093;REN10094;REN10095;REN10096;REN10097;REN10098;REN10099;REN10100;REN10101;REN10102;REN10103;REN10104;REN10105;REN10106;REN10107;REN10108;REN10109;REN10110;REN10111;REN10112;REN10113;REN10114;REN10115;REN10116;REN10117;REN10118;REN10119;REN10120;REN10121;REN10122;REN10123;REN10124;REN10125;REN10126;REN10127;REN10128;REN10129;REN10130;REN10131;REN10132;REN10133;REN10134;REN10135;REN10136;REN10137;REN10138;REN10139;REN10140;REN10141;REN10142;REN10143;REN10144;REN10145;REN10146;REN10147;REN10148;REN10149;REN10150;REN10151;REN10152;REN10153;REN10154;REN10155;REN10156;REN10157;REN10158;REN10159;REN10160;REN10161;REN10162;REN10163;REN10164;REN10165;REN10166;REN10167;REN10168;REN10169;REN10170;REN10171;REN10172;REN10173;REN10174;REN10175;REN10176;REN10177;REN10178;REN10179;REN10180;REN10181;REN10182;REN10183;REN10184;REN10185;REN10186;REN10187;REN10188;REN10189;REN10190;REN10191;REN10192;REN10193;REN10194;REN10195;REN10196;REN10197;REN10198;REN10199;REN10200;REN10201;REN10202;REN10203;REN10204;REN10205;REN10206;REN10207;REN10208;REN10209;REN10210;REN10211;REN10212;REN10213;REN10214;REN10215;REN10216;REN10217;REN10218;REN10219;REN10220;REN10221;REN10222;REN10223;REN10224;REN10225;REN10226;REN10227;REN10228;REN10229;REN10230;REN10231;REN10232;REN10233;REN10234;REN10235;REN10236;REN10237;REN10238;REN10239;REN10240;REN10241;REN10242;REN10243;REN10244;REN10245;REN10246;REN10247;REN10248;REN10249;REN10250;REN10251;REN10252;REN10253;REN10254;REN10255;REN10256;REN10257;REN10258;REN10259;REN10260;REN10261;REN10262;REN10263;REN10264;REN10265;REN10266;REN10267;REN10268;REN10269;REN10270;REN10271;REN10272;REN10273;REN10274;REN10275;REN10276;REN10277;REN10278;REN10279;REN10280;REN10281;REN10282;REN10283;REN10284;REN10285;REN10286;REN10287;REN10288;REN10289;REN10290;REN10291;REN10292;REN10293;REN10294;REN10295;REN10296;REN10297;REN10298;REN10299;REN10300;REN10301;REN10302;REN10303;REN10304;REN10305;REN10306;REN10307;REN10308;REN10309;REN10310;REN10311;REN10312;REN10313;REN10314;REN10315;REN10316;REN10317;REN10318;REN10319;REN10320;REN10321;REN10322;REN10323;REN10324;REN10325;REN10326;REN10327;REN10328;REN10329;REN10330;REN10331;REN10332;REN10333;REN10334;REN10335;REN10336;REN10337;REN10338;REN10339;REN10340;REN10341;REN10342;REN10343;REN10344;REN10345;REN10346;REN10347;REN10348;REN10349;REN10350;REN10351;REN10352;REN10353;REN10354;REN10355;REN10356;REN10357;REN10358;REN10359;REN10360;REN10361;REN10362;REN10363;REN10364;REN10365;REN10366;REN10367;REN10368;REN10369;REN10370;REN10371;REN10372;REN10373;REN10374;REN10375;REN10376;REN10377;REN10378;REN10379;REN9953;REN9954;REN9955;REN9956;REN9957;REN9958;REN9959;REN9960;REN9961;REN9962;REN9963;REN9964;REN9965;REN9966;REN9967;REN9968;REN9969;REN9970;REN9971;REN9972;REN9973;REN9974;REN9975;REN9976;REN9977;REN9978;REN9979;REN9980;REN9981;REN9982;REN9983;REN9984;REN9985;REN9986;REN9987;REN9988;REN9989;REN9990;REN9991;REN9993;REN9994;REN9995;REN9996;REN9997;REN9998;REN9999;RH11708;RH75451;SHGC-33355;STS-AA018412;WI-14026;stSG618922;stSG618923;stSG618924;stSG618925;stSG618926;stSG618927;stSG618928;stSG618929;stSG618930;stSG618931;stSG618932;stSG618933;stSG618934;stSG618937;stSG618938;stSG618939;stSG618940;stSG618941;stSG618942;stSG618943;stSG618944;stSG618945;stSG618946;stSG618947;stSG618948;stSG618949;stSG618950;stSG618951;stSG618952;stSG618953;stSG618954;stSG618955;stSG618956;stSG618957;stSG618958;stSG618960;stSG618961;stSG618962;stSG618963;stSG618964;stSG618965;stSG618966;stSG618967;stSG618968;stSG618969;stSG618970;stSG618971;stSG618972;stSG618974;stSG618975;stSG618976;stSG618977;stSG618978;stSG618979;stSG618980;stSG618981;stSG618982;stSG618983;stSG618984;stSG618985;stSG618986;stSG618987;stSG618988;stSG618989;stSG618990;stSG618991;stSG618992;stSG618993;stSG618994;stSG618995;stSG618996;stSG618997;stSG618998;stSG619000 FLJ10996;FLJ25197;MGC13033 OTTHUMP00000064463;OTTHUMP00000180677;coiled-coil domain-containing protein 93 protein-coding ENSG00000125633 25611 08557 VALIDATED 1343153 CCIN calicin The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 36102976 36104918 + 36159391 36161320 + 36169389 36171331 + 1580863;6480464 12477932;11090452;7641791;21832049 881 Q13939;Q8WWB2;Q8WX35 AA420997;ABBA01050434;AF333334;AK313763;AL158830;AMYH01019348;BC019251;CH471071;NM_005893;Z46967 AAH19251;AAK20829;ABM81752;ABM84906;ABM84908;ABW03306;BAG36501;CAA87088;EAW58313;EAW58314;NP_005884;Q13939 Hs.115460 2137098;2218348 CCIN_4526;RH71317 BTBD20 OTTHUMP00000021373;calicin APPROVED protein-coding ENSG00000185972 1568 04907 603960 REVIEWED 1345074 CCL12 chemokine (C-C motif) ligand 12 337987 AF065934 19148 735565 CCKBR cholecystokinin B receptor This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Jul 2008] 11 11 p15.4 6237542 6249932 + 6280904 6293357 + 1358454;1580863;2311323;1358452;2311333;2311332;4110816;4110823;4110829;4110821;4110822;1626108;6480464 15354400;16527403;15161757;15102523;15948246;12851875;8302799;15688412;1458479;8222074;15647484 10400698;7681836;17474147;8455720;8349705;19086053;18996102;18832011;18444993;18438722;18028338;17962809;17936921;17933865;17889508;17572695;16998832;16963136;16909104;16547500;16242076;16228228;16143134;16142371;16012719;15989082;15850403;15817487;15611055;15520004;15313848;15292208;15068617;15040018;15036586;15001692;15001623;14759564;14534299;12955087;12777967;12761477;12695525;12510010;12477932;12429993;12400008;12198366;12189558;12058027;11926817;11896205;11830556;11515749;11368834;11244486;10913157;10741470;10438490;10100325;9872672;8995203;8663021;8415658;8343165;8222757;8185170;8125298;7887934;7848914;1280419;22516348;22442157;19502590;19697327;19874574;20023595;20185366;20201926;20379614;20468064;19751565;16754659;19627395;19913121;20602615;20628086;20732371;20932834;21156802;21504585;16344560;22645275;21852362;22277584;22040601;23053898;23376640;8185642 887 E9PIC8;E9PJ49;E9PPL7;P32239 ABBA01028664;AC022762;AC068733;AF239668;AF441129;AK226020;AK292064;AK314266;AMYH01003366;AY029770;AY322551;BC000740;BT006789;CH471064;CX762706;D13305;D21219;DA297178;DQ335648;DQ335649;DQ335650;DQ335651;L04473;L07746;L08112;L10822;NG_030591;NM_176875;S70057;S76072 AAA35657;AAA35660;AAA91831;AAB30766;AAB33740;AAC37528;AAF67174;AAH00740;AAK38351;AAN32829;AAP35435;AAP84364;ABC86718;ABC86719;ABC86720;ABC86721;ABM84663;ABM92194;BAA02564;BAA04759;BAF84753;EAW68734;EAW68735;NP_795344;P32239 Hs.203 2179781 RH69002 CCK-B;CCK2R;GASR CCK-B receptor;CCK-BR;CCK2 receptor;CCK2-R;OTTHUMP00000164537;OTTHUMP00000229568;OTTHUMP00000229571;cholecystokinin-2 receptor;cholecystokinin-B receptor/gastrin receptor;gastrin receptor;gastrin/cholecystokinin type B receptor APPROVED protein-coding ENSG00000110148 1571 00323 118445 REVIEWED 1344859 CCHCR1 coiled-coil alpha-helical rod protein 1 6 6 p21.3 31218195 31233994 - 31110216 31126015 - 6480464 15146197;10888604;18305892;19242354;18174193;17530646;17340018;17221218;17179747;16713569;15654960;15539411;15214895;14702039;14675183;12909641;12477932;12023963;11875053;11348465;10545595;7566098;16141233;19551138;19851445;19915573;20379614;21743467;21810746;21912425;22182809;21139048;21890473;21906983;18029348;21988832;23144326;23189171;23263863 54535 A2ABH0;A2ABH1;A2ABH3;A2ABH4;A2ABH5;B0S7V6;B0S7V7;B0V090;B0V091;B0V092;B4DIA2;D6R9W9;D6RA02;D6RAE7;D6RB88;D6RBG1;D6RD84;D6RDI7;D6RE89;E7EPK4;E7EQC5;E7EQE8;E9PGB6;E9PHV1;Q2TB68;Q5STF0;Q769H0;Q9NXJ4 AA356205;AB029331;AB029343;AB088104;AB112474;AB112475;AB202104;ABBA01038068;ABBA01038069;AC004195;AF216493;AK000204;AK000217;AK000533;AK289446;AK295494;AK310626;AL662833;AL662844;AL773544;AMYH01016209;AY029160;BA000025;BC110534;BC110535;BX927139;CH471081;CN428429;CR457227;CR753819;CR759815;CR847794;DC357362;NM_001105563;NM_001105564;NM_019052 AAF74221;AAI10535;AAI10536;AAK55759;BAA81890;BAA82158;BAA91007;BAA91016;BAA91236;BAB63313;BAC54937;BAD05130;BAD05131;BAE78628;BAF82135;BAG58414;CAG33508;EAX03361;EAX03362;NP_001099033;NP_001099034;NP_061925;Q8TD31 Hs.485075 1768963;1790855;1790857;2181757;2191569 D6S2687;D6S2688;MARC_26584-26585:1033750163:1;RH46639;WI-15384 C6orf18;HCR;MGC126371;MGC126372;SBP HCR (a-helix coiled-coil rod homologue);OTTHUMP00000029150;OTTHUMP00000165080;OTTHUMP00000165081;OTTHUMP00000165085;OTTHUMP00000165088;StAR-binding protein;alpha-helical coiled-coil rod protein;coiled-coil alpha-helical rod protein 1;pg8;putative gene 8 protein protein-coding ENSG00000204536 13930 05607 605310 VALIDATED 731770 CCKAR cholecystokinin A receptor This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008] 4 4 p15.1-p15.2 26092116 26101140 - 26483018 26492042 - 1625802;1580863;1625200;1358451;734711;2314139;4110816;4110818;4110822;4110817;6480464 12777967;16815799;10572328;9192855;15908333;12851875;9239407;8222074;10457335 19086053;18996102;18832011;18776046;18444993;17944886;17597711;17457313;17413452;17413443;16362631;15927089;15786550;15740988;15723764;15634012;15632187;15489334;15363473;15340101;15313848;15108185;15100163;14691070;14534299;12801592;12627462;12477932;12424565;12198366;11730982;11549403;11495676;11368834;11300760;10893485;10682840;10595537;10555959;10400673;10026437;9603948;8343165;8503909;9006937;7759110;7557108;21728335;21813391;18583979;19753663;19760980;19874574;20023595;20351714;20424473;20468064;20535329;16754659;19751565;20538960;20558763;19913121;20602615;20628086;20732371;18577758;22396142;22021636;22825913;23341962 886 P32238 ABBA01032727;AC093637;AK313978;AMYH01014075;AY322549;BC074987;CH471069;D85606;L13605;L19315;NG_012053;NM_000730;U23430 AAA02819;AAA35659;AAA91123;AAH74987;AAP84362;BAA90879;BAG36692;EAW92850;NP_000721;P32238 Hs.129 1851913;1852921;2149104 D4S3157;SHGC-50173;STS-L19315 CCK-A;CCK1-R;CCKRA CCK-A receptor;CCK-AR;OTTHUMP00000158717;cholecystokinin receptor type A;cholecystokinin type-A receptor;cholecystokinin-1 receptor APPROVED protein-coding ENSG00000163394 1570 00322 118444 REVIEWED 737505 CCK cholecystokinin Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the gallbladder. In the brain, its physiologic role is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic cleavages. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 p22.1 42274322 42281399 - 42299318 42307662 - 1625798;1358450;1625802;1625799;1626086;1580863;2313635;2313638;2313636;1626108;6480464 17443025;9754694;12777967;8988922;10668930;17157334;15536283;16989746;15647484 10320330;19339394;19086053;19058789;18996102;18555802;18423848;18396340;18234641;18154642;18066654;17964616;17438102;17365745;17332474;17208296;17192493;16185316;15837012;15743365;15740988;15682471;15624269;15533776;15520004;15489334;15354400;15328192;15313848;15100163;15068617;15001692;14764444;12920059;12915664;12789687;12695525;12627463;12572876;12479974;12477932;12198366;12116188;12116180;12065614;11803530;11724786;11713985;11713982;11713976;11509018;11443535;11368834;11300760;11278902;11232009;11140838;11076522;11025367;10595537;10438490;10400673;9603948;9399627;9275097;9006937;8804068;6529856;6288173;3856870;18577758;3582983;3011648;1370477;16712791;20023595;15152034;15374756;19497313;19741117;19760980;19874574;19914303;20036221;20424473;20468064;20602615;20732371;20734064;16754659;20930049;20457200;21186400;21154912;23564449;23064014;21506165;21139048;21985915;22188045;22344221;21542221;21753024;23349895;23233532 885 P06307;Q6FG82 ABBA01024771;AC018358;AK289716;AMYH01013111;AY514491;BC008283;BC093055;BC111026;BT006991;CB154424;CB961869;CD250282;CH471055;CR542226;L00354;L29399;L29400;NM_000729;NM_001174138 AAA53094;AAH08283;AAH93055;AAI11027;AAP35637;AAR89908;ABM92185;ABW03280;ABW03283;BAF82405;CAG47022;EAW64644;EAW64645;NP_000720;NP_001167609;P06307 Hs.458426 1741425;1794326;1855866 GDB:181198;PMC311033P1;SHGC-76858 MGC117187 OTTHUMP00000209368;OTTHUMP00000209369;cholecystokinin;cholecystokinin triacontatriapeptide;prepro-cholecystokinin APPROVED protein-coding ENSG00000187094 1569 00321 118440 REVIEWED 1353511 CCL1 chemokine (C-C motif) ligand 1 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Jul 2013] 17 17 q12 29711512 29714365 - 32687399 32690252 - 1580863;4891410;4891418;4891422;4891420;4145109;4145441;4891417;4891408;4891409;4891412;4891421;6480464 16864713;20598643;20455898;17982926;12600821;11134301;19057661;18703681;12707363 9417093;2212659;19372141;19258923;17845580;17703412;17693327;17672898;17641040;17122780;16735693;16679317;16540498;15814739;15489334;15340161;14630801;12967681;12645948;12489497;12477932;12393595;11818437;11133740;11076863;10985253;10942748;10821677;10648464;10409433;9211859;8077676;2809212;1557400;15989956;19117730;19423540;19776237;19865101;20056178;20237496;20406964;20438785;20503287;22147355;22412388;21849907;22479563;16344560;23811304 6346 P22362;Q76BR7 AB110829;ABBA01011215;AC011193;AK312183;AMYH01008350;BC105073;BC105075;CH471147;DA620119;HI574344;M57502;M57506;NM_002981 AAA52705;AAA61196;AAI05074;AAI05076;AAI11915;BAC98367;BAG35116;CBX47661;EAW80204;NP_002972;P22362 Hs.72918 1673077;1733398;1745477 D17S1270;D17S1677;GDB:607775 I-309;P500;SCYA1;SISe;TCA3 C-C motif chemokine 1;OTTHUMP00000163800;T lymphocyte-secreted protein I-309;inflammatory cytokine I-309;small inducible cytokine A1 (I-309, homologous to mouse Tca-3);small-inducible cytokine A1 APPROVED protein-coding ENSG00000108702 10609 01654 182281 REVIEWED 1351854 CCL11 chemokine (C-C motif) ligand 11 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Jul 2013] 17 17 q12 29636800 29639312 + 32612687 32615199 + 1580863;2307177;2307196;4145448;4140459;4145411;4145415;4145432;4145451;4145457;4145479;4145482;4145442;4145450;2307108;4891485;4145387;4145393;4145395;4145392;4145441;4145443;4145445;4145455;4145458;4145460;4891487;4145452;4145462;4145389;4145437;4145439;4145477;4145447;4145461;4145472;4145481;4145471;5130930;6480464;6484113;6907045;7240710;7247743;5683918;7247742;7248410;7248413;7248417;7247740;7247741;7247739;7248411;7248414;7248412;7248408;7248409;7248415;7248416 15823807;12682842;10415058;20644177;16120080;15681407;15236177;9034156;17845580;11564646;9665468;11991282;10595930;18595729;17060636;20704746;17983873;16314464;18250471;12600821;11877329;11290805;17999785;17620002;17297249;19296494;20656925;16765544;19925666;12750406;12707338;15181185;10955955;17074272;19865101;10861753;20832583;16304252;21952467;21113841;22160777;16168564;23893332;21652218;22427838;22176730;22778179;15673311;23089405;9892814;20841614;16251415;23049540;22932891 17672898;10477718;10072545;10201960;10415069;10706854;10708591;9558100;19559392;19479237;19351767;19264973;19263529;19258923;19247692;19131662;19056482;19028820;18981162;18974840;18971287;18950617;18844613;18714023;18712274;18699931;18523302;18515987;18398743;18380907;18312691;18312459;18203973;18055844;17827376;17703412;17541284;17220216;17016617;16879311;16872505;16864713;16517749;16510147;16461130;16391516;16184405;16029496;15661912;15537425;15489334;15389872;15223611;15207712;15186951;14733956;14725564;14571188;12916705;12915771;12884299;12477932;12393570;12392390;12370400;12234713;12193745;12192108;12082592;12065904;11966763;11884459;11742272;11390394;11264152;10734104;10642580;9712872;9578468;9405404;9299399;9169149;8780731;8676064;8642344;8631813;8609214;8597956;8674119;19913121;20505746;20536507;20603037;20628086;20628624;21406396;15067078;16169070;19338989;19423540;19525930;19578796;19729601;19948975;20056178;20227754;20236835;20237496;20306659;20406964;20438785;20503287;21052690;20934424;21077277;19937162;19522186;21368236;16874958;20444156;17438849;17438850;23114905;22846146;23061798;23149666;23180368;23477905;23496801;23532518;23679817;23820464;21825098;21900206;22114952;22775568;22412388;21601544;23049769;23128233;22773402;22271279;23059958 6356 P51671;Q6I9T4 AB063614;AB063616;ABBA01011212;AC005549;AI446061;AMYH01008350;BC017850;BF197516;CH471147;CR457421;EF064768;NG_012212;NM_002986;U34780;U46572;U46573;Z69291;Z75668;Z75669;Z92709 AAA98957;AAC50369;AAC51297;AAH17850;ABK41951;ABM82895;ABM86084;CAA93258;CAA99997;CAA99998;CAB07027;CAG33702;EAW80209;NP_002977;P51671 Hs.54460 1690988;2217112 CCL11_2928;RH75873 MGC22554;SCYA11 C-C motif chemokine 11;OTTHUMP00000163793;eosinophil chemotactic protein;eotaxin;eotaxin-1;small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin);small-inducible cytokine A11 APPROVED protein-coding ENSG00000172156 10610 03098 600807;601156;609423 REVIEWED 1321539 CCL15 chemokine (C-C motif) ligand 15 This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013] 17 17 q11.2 31348777 31353125 - 34324618 34329084 - 1580863;6480464 22092970;22279551;15001559;9346309;9548457;9600961;19258923;17703412;17296613;16737685;16364464;16341674;16034099;15905581;15894113;15340161;15251437;15179048;14984572;12759139;12477932;11832479;11527984;10604595;10320325;10213461;9624581;9558365;9129202;8661057;19669929;20016943;19812544;20237496;20379614;20503287;18587271;19203252;19220835;20126378;20616008;10202040;11888507;11943214;22147696 6359 H7BYL4;Q16663 ABBA01011242;AC004675;AC069363;AF031587;AF088219;AI244164;AMYH01008361;BX098368;BX497188;NM_032965;U58914 AAB94617;AAC63328;AAD10847;NP_116741;Q16663 Hs.272493 1337007;1745467;1773201 D17S758;GDB:607754;RH12877 HCC-2;HMRP-2B;LKN1;Lkn-1;MIP-1 delta;MIP-1d;MIP-5;MRP-2B;NCC-3;NCC3;SCYA15;SCYL3;SY15 C-C motif chemokine 15;CC chemokine 3;MIP-1 delta;OTTHUMP00000163955;chemokine CC-2;leukotactin 1;leukotactin-1;macrophage inflammatory protein 5;mrp-2b;new CC chemokine 3;small inducible cytokine subfamily A (Cys-Cys), member 15;small-inducible cytokine A15 APPROVED protein-coding ENSG00000267596 10613 03232 601393 VALIDATED 6904431 CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate) A cluster of CC chemokine genes exists on chromosome 17q11.2. The CC chemokines are secreted proteins characterized by two adjacent cysteines. The genes chemokine (C-C motif) ligand 14 and chemokine (C-C motif) ligand 15 are adjacent loci and express read-through transcripts spanning both loci. The read-through transcripts were originally interpreted as bicistronic transcripts, but they are represented as non-coding because they are candidates for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Dec 2009] 17 q12 34310692 34329084 - 6480464 10213461;11527984;12477932;20967262;8661057;9600961 348249 ABBA01011242;AC004675;AC069363;AMYH01008361;BC140941;NR_027921;NR_027922;Z70292;Z70293 AAI40942 Hs.272493 1337007;1745465;1745467;1773201;1776363 D17S758;GDB:607751;GDB:607754;RH12877;STS-H22017 APPROVED miscrna 44436 VALIDATED 1353724 CCL13 chemokine (C-C motif) ligand 13 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Jul 2008] 17 17 q11.2 29707584 29709742 + 32683471 32685629 + 1580863;6480464 9558100;9195948;19258923;18660381;18219197;17851891;17824960;17703412;17541284;17181634;16855189;16625196;15489334;14560935;12915769;12805085;12731055;12477932;12149192;11597922;8642349;8661057;11400154;11342433;10734104;10477718;10049733;9405404;9060459;8955214;20628624;16169070;19423540;19565514;19865101;20056178;20237496;20406964;20438785;20503287;20139115;21832049;22393877;10072545;21327296;22412388;23128233 6357 J3QLQ9;Q99616 ABBA01011214;AC002482;AC011193;AJ000979;AJ001634;AMYH01008350;BC008621;BT007385;CH471147;CR450337;NM_005408;U46767;U59808;X98306;Z77650;Z77651 AAB38703;AAB67307;AAD09362;AAH08621;AAP36049;ABM82423;ABM85614;CAA04888;CAA66950;CAB01111;CAB01112;CAG29333;EAW80205;EAW80206;NP_005399;Q99616 Hs.414629 1745479;2136807;2145444;2217114 CCL13__3123;GDB:607778;RH45400;RH70645 CKb10;MCP-4;MGC17134;NCC-1;NCC1;SCYA13;SCYL1 C-C motif chemokine 13;CK-beta-10;OTTHUMP00000163804;monocyte chemoattractant protein 4;monocyte chemotactic protein 4;new CC chemokine 1;small inducible cytokine subfamily A (Cys-Cys), member 13;small-inducible cytokine A13 APPROVED protein-coding ENSG00000181374 10611 03230 601391 REVIEWED 1604060 CCL14 chemokine (C-C motif) ligand 14 This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009] 17 17 q11.2 31334805 31337852 - 34310692 34313764 - 6480464 9405404;17353931;8551235;19258923;18602166;18367676;17703412;17691823;16344560;16341674;15489334;15338056;14718574;12477932;11527984;11085751;10978165;10213461;9600961;8661057;7829101;19553544;19632987;19812544;20379614;20503287;21937684 6358 K7END2;Q16627 AA612866;ABBA01011242;AC004675;AC069363;AF088219;AK122606;AMYH01008361;BC038289;BC045165;BC050647;BI496964;BM853193;CH471147;DA821276;NM_032962;NM_032963;Z49269;Z49270 AAC63329;AAF23982;AAH38289;AAH45165;ADR82662;CAA89263;CAA89264;EAW80105;EAW80106;EAW80107;EAW80108;NP_116738;NP_116739;Q16627 Hs.272493;Hs.740501 1745465;1776363 GDB:607751;STS-H22017 CC-1;CC-3;CKb1;FLJ16015;HCC-1;HCC-1(1-74);HCC-1/HCC-3;HCC-3;MCIF;NCC-2;NCC2;SCYA14;SCYL2;SY14 C-C motif chemokine 14;HCC-1(1-74);HCC-1/HCC-3;OTTHUMP00000176860;chemokine CC-1;chemokine CC-1/CC-3;chemokine CC-3;hemofiltrate CC chemokine 1;new CC chemokine 2;small inducible cytokine subfamily A (Cys-Cys), member 14;small-inducible cytokine A14 APPROVED protein-coding ENSG00000213494 10612 03231 601392 REVIEWED 1352726 CCL16 chemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008] 17 17 q11.2 31327648 31332636 - 34303535 34308523 - 1580863;6480464 15001559;9642106;19258923;17703412;17122780;16226254;15489334;15265943;15034014;14525962;12477932;11470772;10910894;10671294;10235110;10213461;9596672;9545580;8661057;18240029;19494526;20237496;20503287;18577758;2834384;21288736;22857868;21951809 6360 H0YCC1;K7ELY7;O15467 AB007454;AB018249;ABBA01011242;AC004675;AF039954;AF039955;AF055467;AF088219;AMYH01008361;BC096352;BC099662;BC099663;BC099664;CH471147;NM_004590;U91746 AAC05587;AAC28844;AAC63330;AAC97450;AAC97451;AAH99662;BAA24057;BAA35138;EAW80114;NP_004581;O15467 Hs.10458 1684076;2178132;5015619;5015861;5020946;5022651;5024756;5037552;7185938 D10S16;D11S2921;D11S3114;D17S2005;D8S2279;L17971;RH80030;RH98255 CKb12;HCC-4;ILINCK;LCC-1;LEC;LMC;MGC117051;Mtn-1;NCC-4;NCC4;SCYA16;SCYL4 C-C motif chemokine 16;IL-10-inducible chemokine;OTTHUMP00000163951;chemokine CC-4;chemokine LEC;liver CC chemokine-1;liver-expressed chemokine;lymphocyte and monocyte chemoattractant;monotactin-1;new CC chemokine 4;small inducible cytokine subfamily A (Cys-Cys), member 16;small-inducible cytokine A16 APPROVED protein-coding ENSG00000161573 10614 03233 601394 REVIEWED 1349365 CCL17 chemokine (C-C motif) ligand 17 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Jul 2008] 16 16 q13 55996180 56007475 + 57438679 57449974 + 1580863;1626251;2306304;4145487;4145603;4145489;4145606;4145614;4145513;4145517;4145486;4145491;4145515;4145612;4145494;4145495;4145500;4145604;4145498;4145488;4145602;6480464;6484113 15491423;15993846;20074456;11160256;18684970;18276722;20071465;15947487;15293604;20237293;18026571;15466387;17898016;17949965;17641031;16387607;18785972;17517104;19715610;11956056 22058214;12832759;12715916;12642832;12615364;12615362;12499558;12485447;12477932;12456591;12441140;12413771;12390321;12193695;12126650;12104083;11468146;10737800;10540332;10493829;9691168;9521068;9430724;9169480;8702936;19258923;19088500;19005490;18824549;18691306;18547160;18435706;18395252;18375080;18271928;18266834;18224687;18191727;18004070;17979978;17967467;17703412;17565019;17548604;17546636;17023689;16859899;16583210;15955100;15944327;15813816;15500644;15489334;15474066;15335355;15113590;15047814;14962085;14767451;14747532;14734737;14677179;13679391;12871855;9070951;15067078;18937546;19236603;19371952;19421847;19639049;20237496;20503287;20625996;20002703;20669282;20800454;20374230;21129807;23224400;21707761;22775568;22322668;22533972;22017510;22981793;23225085 6361 Q92583 ABBA01025270;AC004382;AC009052;AMYH01007700;BC069107;BC112066;BC112068;BE061171;CH471092;D43767;EF064767;NM_002987 AAC24308;AAH69107;AAI12067;AAI12069;ABK41950;BAA07824;EAW82921;NP_002978;Q92583 Hs.546294 1688150;2129175 RH66539;RH80761 A-152E5.3;ABCD-2;MGC138271;MGC138273;SCYA17;TARC C-C motif chemokine 17;CC chemokine TARC;OTTHUMP00000164673;T cell-directed CC chemokine;small inducible cytokine subfamily A (Cys-Cys), member 17;small-inducible cytokine A17;thymus and activation-regulated chemokine APPROVED protein-coding ENSG00000102970 10615 03309 601520 REVIEWED 1321181 CCL19 chemokine (C-C motif) ligand 19 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Jul 2008] 9 9 p13 34679567 34681274 - 34689567 34691274 - 1580863;5130912;5130906;5130909;5130918;5130910;5130911;5130908;6480464 12626344;19933855;17947663;20176793;17717200;16959919;19783686 10861057;9153236;19258923;18838169;18757429;18047937;17881634;17825430;17709502;17703412;17597826;17469160;17182562;17082584;16904643;16887149;16678487;16500130;16249377;16081805;15714581;15674360;15546958;15489334;15019823;14871974;14592837;12477932;12474232;11994492;11981810;11929789;11870628;11869682;10706668;9743376;9498785;9235955;9013939;20592280;21464944;18240029;19540558;19655301;20002784;20237496;20503287;18577758;20865789;12729902;15059845;15778365;20969772;21139048;22288592;22334704;22976543;20015995;20942936;18310327 6363 Q5VZ75;Q6IBD6;Q99731 AB000887;ABBA01065006;AJ223410;AK311945;AL162231;AMYH01019340;AX772806;BC027968;CH471071;CR456868;EF064766;NM_006274;U77180;U88321 AAC23905;AAC50944;AAH27968;ABK41949;ABM86162;ABW03691;BAA20383;BAG34886;CAA11307;CAE06252;CAG33149;EAW58416;NP_006265;Q99731 Hs.50002 1689159;1775232;1776404;2119349 AFM326vd1;RH91355;SHGC-37670;STS-U77180 CKb11;ELC;MGC34433;MIP-3b;MIP3B;SCYA19 C-C motif chemokine 19;CC chemokine ligand 19;CK beta-11;EBI1 ligand chemokine;EBI1-ligand chemokine;MIP-3-beta;OTTHUMP00000021295;OTTHUMP00000021296;beta chemokine exodus-3;beta-chemokine exodus-3;epstein-Barr virus-induced molecule 1 ligand chemokine;exodus-3;macrophage inflammatory protein 3 beta;macrophage inflammatory protein 3-beta;small inducible cytokine subfamily A (Cys-Cys), member 19;small-inducible cytokine A19 APPROVED protein-coding ENSG00000172724 10617 03750 602227 REVIEWED 1345851 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Jul 2008] 17 17 q11.2 31415756 31422954 + 34391643 34398841 + 1580863;6480464 9192897;9233607;19258923;19017877;17979978;17909104;17900259;17875202;17703412;17469163;17181634;16984635;16773571;16736095;16670340;16415274;16169070;15702402;15661937;15494534;15489334;14578205;12805086;12716654;12646652;12626578;12477932;12161279;11978786;11745396;10087196;10049593;9570561;9129202;19937162;19913121;20628086;21324976;19036375;19357939;19423540;19808030;19958819;20237496;20406964;20438785;20503287;17207965;20674579;20608885;20568229;22629457;21481794;23029252;23102918;22404649;23331560;21539615;21251883;21778167;21943944;22117697;22203932;22649201;21928244;22848587;22589264;23349697;23029519 6362 P55774 AB000221;AB012113;AB451458;ABBA01011243;AC069363;AF082212;AF082213;AF082214;AF111198;AMYH01008363;BC069700;BC096124;BC096125;BC096126;BC096127;CH471147;CR407660;CS115015;NM_002988;Y13710 AAC32287;AAD30390;AAH69700;AAH96124;AAH96125;AAH96126;AAH96127;ADQ32936;BAA21670;BAA34368;BAG70272;CAA74039;CAG28588;CAJ15096;EAW80102;NP_002979;P55774 Hs.143961 1646248;2110307;2163086;2185993 CCL18_3012;D17S1315;RH16601;SHGC-33674 AMAC-1;AMAC1;CKb7;DC-CK1;DCCK1;MIP-4;PARC;SCYA18 C-C motif chemokine 18;CC chemokine PARC;CC chemokine ligand 18;OTTHUMP00000163954;alternative macrophage activation-associated CC chemokine 1;chemokine (C-C), dendritic;dendritic cell chemokine 1;macrophage inflammatory protein 4;pulmonary and activation-regulated chemokine;small inducible cytokine A18;small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated;small-inducible cytokine A18 APPROVED protein-coding 10616 04784 603757 VALIDATED 1347908 CCL20 chemokine (C-C motif) ligand 20 2 2 q36.3 228386814 228390494 + 228678558 228682280 + 1580863;6480464;6907045 19303953;8076819;22553918;10438902;9038201;10521347;9129037;19492413;19350575;19340288;19324905;19305396;19233848;19006683;18980993;18757306;18703490;18684866;18576931;18512817;18086840;18047937;17903302;17664181;17562763;17548638;17295217;17241869;17133360;17075975;16820679;16764701;16531471;16215992;16095490;16034074;15815621;15679580;15671814;15618437;15489334;15474097;15336571;15069060;14714554;12821122;12760962;12684696;12528183;12496186;12477932;12427784;12414801;12356943;12239608;12149255;12067311;12010510;11994436;11994140;11877260;11807793;11532377;11352563;11133838;11083865;11035086;10601351;10064080;9294137;9223454;9169459;9013939;12089333;15972662;22286692;20459729;20420712;21300824;19567485;19913121;20628086;17545018;18240029;19295614;19423540;19479364;19644053;19784662;19797510;19885605;20023216;20054338;20064082;20237496;20406964;20438785;18577758;20511548;20595617;20400327;20439195;20819093;21178014;21178448;20816914;20969772;22388957;22911498;23568457;21911466;21248725;22019504;22099878;21912453;21935436;21961038;22048239;21881590;21949768;22001440;22533972;21724701;22857950;23011799;21988832;23118497;22926920;22860513;22926691;17356539;20942936;21858117;22796894 6364 P78556 ABBA01050170;AC073065;AMYH01011543;BC020698;CH471063;D17012;D86955;HI574034;NM_001130046;NM_004591;U64197;U77035 AAB61534;AAC50943;AAH20698;AAX93214;ABM82899;ABM87840;BAA13191;CBX47506;EAW70877;EAW70878;NP_001123518;NP_004582;P78556 Hs.75498 1797352 CCL20_2649 CKb4;LARC;MIP-3-alpha;MIP-3a;MIP3A;SCYA20;ST38 C-C motif chemokine 20;CC chemokine LARC;MIP-3-alpha;OTTHUMP00000164245;OTTHUMP00000204113;beta chemokine exodus-1;beta-chemokine exodus-1;exodus-1;liver and activation-regulated chemokine;macrophage inflammatory protein 3 alpha;small inducible cytokine subfamily A (Cys-Cys), member 20;small-inducible cytokine A20 protein-coding ENSG00000115009 10619 03571 601960 VALIDATED 731046 CCL2 chemokine (C-C motif) ligand 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013] 17 17 q11.2-q12 29606409 29608335 + 32582296 32584222 + 1581155;1581156;1581157;1581158;1581159;1581160;1581161;1581162;1581163;1580863;1580560;1582323;1358456;2307014;2307015;2306990;2306982;2306983;2306989;2306992;2306993;2306979;2306980;2306995;2307000;2307041;2307145;2301862;2307195;2306981;2306984;2306985;2306986;2306988;2306998;2306999;2307001;2307002;2307003;2307004;2307006;2307009;2307016;2307024;2307033;2307046;2307052;2307053;2298858;2307054;2307055;2307057;2307059;2307143;2307147;2307176;2307029;2307038;2307008;2307141;2306991;2307114;2307010;2307043;4891425;4142853;4891433;4891429;4891451;4891458;4891439;4891443;4891466;4143275;4891453;4145441;4891442;4891450;4891460;4891461;4891459;4891427;4145112;4891428;4891456;4145509;4891409;5135051;5683876;6480464;6484113;6907045;7240710;6218988;6480432 14967845;12950323;16697654;15627719;16799229;16164699;16116069;15742444;15308783;14693680;14684844;15034225;18555988;18482727;17982227;19097668;19092169;18031723;17876613;17803693;19409809;19369290;19401162;19164781;18433541;16844401;18388116;14611812;19118698;18976114;18762729;18702087;18093596;19260320;19210118;19144177;19111613;19087668;19060786;18806609;18690297;18475188;18473828;18459941;18297440;18292571;18167211;18087711;17989143;17964702;17950261;17898087;17052673;16832247;15882261;18459944;18469848;18726678;17304115;17968528;17666800;18642776;18419759;20967263;20404807;20396927;20497022;19617401;20966041;20111728;20042590;19373627;20438838;19615053;12600821;20056091;19629725;19762564;19648283;20855682;20921064;20833968;20618689;19515386;20205697;18703681;21268133;21285114;21894146;21767135 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6347 J3KRT7;P13500 ABBA01011212;AC005549;AF519531;AK311960;AMYH01008350;AV733621;AY357296;BC009716;BG530064;BT007329;CH471147;D26087;M24545;M26683;M28225;M28226;M31626;M37719;NG_012123;NM_002982;S69738;S71513;X14768;X60001;Y18933 AAA18102;AAA18164;AAA36330;AAA60308;AAA60309;AAA96708;AAB20651;AAB29926;AAH09716;AAM54046;AAP35993;AAQ75526;ABM84651;ABW03626;BAA05080;BAG34900;CAA32876;CAC14049;EAW80211;EAW80212;NP_002973;P13500 Hs.303649 1733396;1745473;1795480;5021288 CCL2_498;D17S1269;D17S1988;GDB:607769 GDCF-2;HC11;HSMCR30;MCAF;MCP-1;MCP1;MGC9434;SCYA2;SMC-CF C-C motif chemokine 2;OTTHUMP00000163799;monocyte chemoattractant protein 1;monocyte chemoattractant protein-1;monocyte chemotactic and activating factor;monocyte chemotactic protein 1;monocyte secretory protein JE;small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je);small inducible cytokine subfamily A (Cys-Cys), member 2;small-inducible cytokine A2 APPROVED protein-coding ENSG00000108691 10618 01149 158105;182940;607948;609423 REVIEWED 1323745 CCL21 chemokine (C-C motif) ligand 21 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, May 2013] 9 9 p13 34699002 34700147 - 34709002 34710147 - 1580863;2311360;5130918;5130910;6480464 17372021;20176793;17717200 10861057;9235955;10201891;19180477;19110536;19082456;18802075;18794853;18757429;18354239;17982129;17949547;17890452;17881634;17495955;17474076;17469160;17331965;16904643;16887149;16713569;15934082;15863780;15674360;15569314;15546958;15489334;21972019;14978072;14726959;14726633;14709406;14667884;14592837;14517790;12975309;12847218;12707342;12651610;12477932;12393730;12393410;11970971;15073111;11943728;11929789;11083865;10706668;9585422;9507024;9419363;9300671;9257816;15972662;22619482;21464944;20488224;20797713;17460916;18240029;19644859;19674979;19750015;19832038;19847900;20049410;20219786;20233754;20439292;20444755;20461788;20498205;20488940;20453842;18577758;20739459;20889506;11242036;12729902;15059845;15778365;19624896;21586211;21666055;21698152;22438908;22468089;21900206;22221265;22427939;12066416;15342556;15461605;16671092;22976543;22392503 6366 O00585;Q5VZ73;Q6ICR7 AB002409;ABBA01065006;AF001979;AF030572;AJ005654;AK311901;AL162231;AMYH01019340;AY358887;BC027918;BI833188;BP331359;CH471071;CR450326;EF064765;NM_002989;U88320 AAB86594;AAB91454;AAH27918;AAQ13417;AAQ89246;ABK41948;ABM82974;ABM86168;BAA21817;BAG34842;CAA06653;CAG29322;EAW58415;NP_002980;O00585 Hs.57907 1793756;2217116 CCL21_2702;PMC270078P1 6Ckine;CKb9;ECL;MGC34555;SCYA21;SLC;TCA4 C-C motif chemokine 21;Efficient Chemoattractant for Lymphocytes;OTTHUMP00000021303;OTTHUMP00000021304;beta chemokine exodus-2;beta-chemokine exodus-2;exodus-2;secondary lymphoid tissue chemokine;secondary lymphoid-tissue chemokine;small inducible cytokine subfamily A (Cys-Cys), member 21;small-inducible cytokine A21 APPROVED protein-coding ENSG00000137077 10620 04113 602737 REVIEWED 1348813 CCL23 chemokine (C-C motif) ligand 23 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 q12 31364210 31369118 - 34340097 34345005 - 1580863;6480464 9886417;9104803;19265684;19258923;18668547;18258606;17703412;17513790;17371990;16378600;15927850;15905581;15489334;12477932;11060285;10737895;10660125;10409433;10213461;9558365;9187369;9129202;8661057;20187767;19951712;20056178;20097574;20237496;20503287;21109018;21666788;21646793;20824279;21497884;21656154;22147696;22633458;9834116 6368 K7EMG9;P55773 ABBA01011243;AC069363;AF088219;AMYH01008361;BC093970;BC143310;BQ026575;CH471147;NG_029876;NM_005064;NM_145898;U58913;U67128;U85767 AAB51134;AAC63326;AAC63327;AAD00161;AAD10846;AAH93970;AAI43311;EAW80103;EAW80104;NP_005055;NP_665905;P55773 Hs.169191 2156585;5113928 D17S2152;RH93904 CK-BETA-8;CKb8;Ckb-8;Ckb-8-1;MIP-3;MIP3;MPIF-1;SCYA23;hmrp-2a C-C motif chemokine 23;C6 beta-chemokine;OTTHUMP00000163948;hmrp-2a;macrophage inflammatory protein 3;myeloid progenitor inhibitory factor 1;small inducible cytokine subfamily A (Cys-Cys), member 23;small-inducible cytokine A23 APPROVED protein-coding ENSG00000167236 10622 03930 602494 REVIEWED 1351526 CCL22 chemokine (C-C motif) ligand 22 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Jul 2008] 16 16 q13 55950219 55957602 + 57392695 57400102 + 1580863;2306307;2306304;2306306;4145489;4891473;4891471;4145441;4891474;4145517;4891472;4145515;4891475;4145498;4145488;6480464 11438578;15993846;12651599;18684970;20337996;20628341;12600821;18316417;15293604;16453150;15466387;10384142;17517104;19715610 10861057;9151897;9381181;9743322;19298002;19258923;19244125;18547160;18515987;18435706;18287226;18271928;18266834;18224687;18208895;18178833;18047937;17979978;17967467;17703412;17008059;16614259;16583210;15944327;15813816;15714581;15489334;15210758;15187160;15113590;14962085;14747532;14718574;12851650;12715916;12642832;12485447;12477932;12407016;12193695;11981828;11818437;11792124;11390394;11352815;11241286;10493829;9933589;9691168;9430724;9312138;16343773;9826729;20002703;15067078;19175890;19371952;19756997;19942450;20237496;20503287;20625996;20348247;20525891;16344560;21129807;23265706;21327296;21823987;22125604;22322668;21988832;23106659;22975373;23180648 6367 O00626 ABBA01025270;AC004382;AC009052;AK311970;AMYH01007699;BC027952;CH471092;DA815965;DB154173;EF064764;NM_002990;U83171;U83239 AAB53372;AAB58360;AAC24306;AAH27952;ABK41947;ABM81848;ABM84237;ABM84998;ABM87624;ABW03327;BAG34909;EAW82918;NP_002981;O00626 Hs.534347 2217118;5015861;5020988;5024272;7185938 CCL22_3302;D10S16;D22S958;D2S1254 A-152E5.1;ABCD-1;DC/B-CK;MDC;MGC34554;SCYA22;STCP-1 C-C motif chemokine 22;CC chemokine STCP-1;MDC(1-69);OTTHUMP00000164658;macrophage-derived chemokine;small inducible cytokine A22;small inducible cytokine subfamily A (Cys-Cys), member 22;small-inducible cytokine A22;stimulated T cell chemotactic protein 1;stimulated T-cell chemotactic protein 1 APPROVED protein-coding ENSG00000102962 10621 04263 602957 REVIEWED 1313608 CCL25 chemokine (C-C motif) ligand 25 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 19 19 p13.2 8023934 8033547 + 8117646 8127547 + 1580863;5130926;5130924;6480464 18592157;18056919 10640743;9285413;10544196;19258923;19003934;18245522;17703412;17510295;16517733;12671049;11825560;11805153;11238115;10974041;10706668;10498628;10229797;11046037;9722960;2834384;12477932;18240029;20081876;20738854;21344163;21637913;22102554;22863617 6370 C9JDZ7;O15444 AB046579;ABBA01010866;AC008946;AI313430;AI961745;AK292662;AMYH01009422;BC125136;BC130561;BC144463;CH471139;NM_001201359;NM_005624;U86358 AAB69981;AAI25137;AAI30562;AAI44464;ADR82824;BAB62257;BAF85351;EAW68951;EAW68952;NP_001188288;NP_005615;O15444 Hs.310511 Ckb15;MGC150327;SCYA25;TECK C-C motif chemokine 25;Ck beta-15;OTTHUMP00000180596;OTTHUMP00000180597;TECKvar;chemokine TECK;small inducible cytokine subfamily A (Cys-Cys), member 25;small-inducible cytokine A25;thymus expressed chemokine;thymus-expressed chemokine APPROVED protein-coding ENSG00000131142 10624 03976 602565 REVIEWED 1321033 CCL24 chemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2008] 7 7 q11.23 75279050 75280969 - 75441114 75443033 - 1580863;4145448;4891485;4891483;4891484;4891495;4891487;4145109;4891496;5130930;5130932;4891493;6480464 10415058;17060636;18712274;17548626;15207712;19296494;17982926;12952266;16304252;12761043;15580493 9104803;19264973;19258923;19247692;18055844;17917245;17908961;17703412;17630924;16391516;15744457;15489334;15340161;10713092;14718574;12853948;12477932;12218106;12193745;12192108;12034562;11467997;11286614;11141953;10913244;9598329;9365122;19423540;19525930;19828696;20056178;20143648;20236835;20237496;20406964;20438785;20503287;17207965;20659406;21077277;17438849;19522186;23025269;10072545;22946025;22846146 6369 O00175 ABBA01005890;AC005102;AJ223461;AK312216;AMYH01017555;BC069072;BC069391;CH471220;NM_002991;U85768 AAB51135;AAD15410;AAH69072;AAH69391;ADQ32923;BAG35149;CAA11383;EAW71772;NP_002982;O00175 Hs.247838 Ckb-6;MPIF-2;MPIF2;SCYA24 C-C motif chemokine 24;CK-beta-6;OTTHUMP00000210224;OTTHUMP00000210225;eosinophil chemotactic protein 2;eotaxin-2;myeloid progenitor inhibitory factor 2;small inducible cytokine subfamily A (Cys-Cys), member 24;small-inducible cytokine A24 APPROVED protein-coding 10623 03931 602495 REVIEWED 1604917 CCL3P1 chemokine (C-C motif) ligand 3 pseudogene 1 17 17 q12 31634324 31635567 - 34610311 34611373 - 15028295;12355456;1296815 390788 AC131056;D12592;NG_029353 1745469 GDB:607763 CCL3L2;G0S19-3;LD78gamma;SCYA3L2 APPROVED pseudo 10629 609467 INFERRED 1344177 CCL26 chemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008] 7 7 q11.23 75236778 75257000 - 75398842 75419064 - 1580863;4891493;4891487;5130930;4891495;4891483;5130928;5130929;6480464;6484113 15580493;19296494;16304252;15207712;18712274;15947325;21303604 10373330;19379605;19331716;19258923;18844613;18774776;18055844;17900656;17703412;17541284;17490641;17073866;16604488;16453027;16391516;16264039;16084752;15863444;15784470;15521376;15489334;15039444;12975309;12853948;12689946;12477932;12192108;12061839;11748272;11544308;11425309;11329013;10488147;10415065;9847074;20505746;19141347;19141349;19423540;19525930;19567623;20056178;20059579;20143648;20236835;20406964;20438785;20503287;20974991;21077277;21325281;19203252;22226123;21832049;21266446;21493274;21985360;21881593;23185525;22580413;22846146;22952702;22739041;22946025 10344 Q9Y258 AA926779;AB010447;AB016542;ABBA01005884;ABBA01005885;ABBA01005886;AC005102;AF096296;AF124601;AF142434;AMYH01017555;AY358893;BC069394;BC093773;BC101665;BG211121;CH471220;EF064763;NG_015989;NM_006072 AAD15411;AAD22197;AAD46495;AAF09265;AAH69394;AAH93773;AAI01666;AAQ89252;ABK41946;BAA36704;BAA84579;EAW71771;NP_006063;Q9Y258 Hs.131342 1342049;7187955 D7S1500 IMAC;MGC126714;MIP-4a;MIP-4alpha;SCYA26;TSC-1 C-C motif chemokine 26;CC chemokine IMAC;MIP-4-alpha;OTTHUMP00000160954;OTTHUMP00000210227;chemokine N1;eotaxin-3;macrophage inflammatory protein 4-alpha;small inducible cytokine A26;small inducible cytokine subfamily A (Cys-Cys), member 26;small-inducible cytokine A26;thymic stroma chemokine-1 APPROVED protein-coding ENSG00000006606 10625 05262 604697 REVIEWED 1312228 CCL27 chemokine (C-C motif) ligand 27 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Jul 2008] 9 9 p13 34651893 34652689 - 34661893 34662689 - 1580863;1626250;1626251;5130899;6480464 12642842;15491423;19541356 10588729;19258923;19074885;18772332;18453562;18266834;18025475;17703412;17581202;16675558;14767451;12133963;11821900;11821893;10725697;10725696;10559234;10556532;8889548;16433680;15679580;15598438;15466853;15335355;22526457;19913121;20628086;12477932;18240029;19639049;20503287;18577758;21707761;21993219;22017510 10850 Q5VZ77;Q9Y4X3 AB010445;ABBA01065007;AF082393;AJ243542;AL162231;AMYH01019340;BC148263;BM719357;CH471071;CQ813007;CS642700;EF064762;NG_028966;NM_006664 AAD41238;AAI48264;AAI66648;ABK41945;BAA87046;CAB46983;CAG29883;CAO79486;EAW58418;EAW58420;EAW58421;NP_006655;Q9Y4X3 Hs.648124 1763431;2151283;2155805;5492859 SHGC-147142;SHGC-35540;STS-U32324;UniSTS:483055 ALP;CTACK;CTAK;ESKINE;ILC;PESKY;SCYA27 C-C motif chemokine 27;CC chemokine ILC;IL-11 R-alpha-locus chemokine;IL-11 Ralpha-locus chemokine;OTTHUMP00000021297;cutaneous T-cell attracting chemokine;cutaneous T-cell-attracting chemokine;skinkine;small inducible cytokine subfamily A (Cys-Cys), member 27;small-inducible cytokine A27 APPROVED protein-coding ENSG00000213927 10626 05321 604833 REVIEWED 1605181 CCL3L3 chemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene (CCL3L3 and CCL3L1) and a partial pseudogene. This record represents the more centromeric full-length gene. [provided by RefSeq, Apr 2010] 17 17 q21.1 31546375 31548255 - 34522268 34524147 - 6480464;6907045 15067078;1694014;2271120;15728180;15028295;12477932;12355456;11734558;10364178;8889548;8661057;7566098;1972563;1296815 414062 A8MVB7;P16619 AA380745;AC131056;AC233699;AI302038;AMYH01008363;BC007783;BC063472;BC146919;BC147008;BC147013;BT006783;CF128666;NG_023325;NM_001001437 AAH07783;AAI46920;AAI47009;AAI47014;AAP35429;NP_001001437;P16619 Hs.454713 5111072;5125530 RH68318;SGC35233 464.2;CCL3L1;D17S1718;LD78;LD78BETA;MGC12815;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;G0S19-2;LD78-beta(1-70);PAT 464.2;chemokine (C-C motif) ligand 3-like, centromeric;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding ENSG00000256515 30554 14426 609468 REVIEWED 1345914 CCL3L1 chemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene (CCL3L3 and CCL3L1) and a partial pseudogene. This record represents the more telomeric full-length gene. [provided by RefSeq, Apr 2010] 17 17 q21.1 31647955 31649843 - 34623842 34625730 - 1580863;6480464;6907045;7240710 19279442;19100722;19055602;18989363;18781860;18776933;18498240;18360285;17971457;17952079;17874089;17604289;17330138;17062725;15962231;15728180;15637236;15489334;15340161;15028295;12477932;12355456;11734558;11449371;11390394;10961862;10471782;10364178;8661057;7566098;2271120;1972563;1694014;1296815;20628649;19741716;19812560;19812561;19812562;19812563;19886839;19898927;20044164;20095832;20442634;21919959;20442635;20659124;21084992;21209899;21592988;22837109;21816135;22450355;22476153;22484760;22484763;22785612 6349 A8MVB7;K7EKW0;P16619 AA362164;ABBA01148689;AC131056;AMYH01008361;AV739733;BC027888;BC107710;BC146914;D90145;M24110;NG_023369;NM_021006;X52149 AAA35859;AAH27888;AAI07711;AAI46915;BAA14173;CAA36397;NP_066286;P16619 Hs.512683 2217120;5111072;5125530 CCL3_2642;RH68318;SGC35233 464.2;CCL3L3;D17S1718;G0S19-2;LD78;LD78BETA;MGC104178;MGC12815;MGC182017;MIP1AP;SCYA3L;SCYA3L1 C-C motif chemokine 3-like 1;G0/G1 switch regulatory protein 19-2;LD78-beta(1-70);OTTHUMP00000163947;PAT 464.2;small inducible cytokine A3-like 1;small-inducible cytokine A3-like 1;tonsillar lymphocyte LD78 beta protein APPROVED protein-coding ENSG00000205021 10628 03234 601395;609423 REVIEWED 1347484 CCL6 chemokine (C-C motif) ligand 6 6353 AK002697 10633 1349737 CCL28 chemokine (C-C motif) ligand 28 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. [provided by RefSeq, Jul 2008] 5 5 p12 43417357 43448245 - 43381600 43412488 - 1580863;4892193;4892194;4892195;4892132;4892197;2298761;4892196;4890012;4892224;6480464 20161852;17954569;16290206;19829664;15681819;16840655;19847203;19050296;19393265 10781587;19258923;19003934;18426876;17912348;17703412;16785557;16581045;16433680;15489334;12671049;12538707;12477932;11825560;11295038;10975800;19913121;20628086;18240029;19659860;20237496;20503287;17207965;2834384;18577758;21753853;21447959;23509159 56477 A0N0Q3;D6RC73;D7RIE7;Q9NRJ3 ABBA01024257;AC025457;AF110384;AF220210;AF266504;AK307307;AK312120;AMYH01015057;BC062668;BC069532;CH471119;CQ813003;CS642694;EF064761;HM067700;NM_148672 AAF87205;AAG16691;AAG43193;AAH62668;AAH69532;ABK41944;ADH95184;ADQ32935;BAG35056;CAG29882;CAO79483;EAW56057;EAW56058;EAW56059;EAW56060;NP_683513;Q9NRJ3 Hs.656904 CCK1;MEC;MGC71902;SCYA28 C-C motif chemokine 28;CC chemokine CCL28;OTTHUMP00000120046;OTTHUMP00000221629;chemokine (C-C motif) ligand 28 splice variant chi;mucosae-associated epithelial chemokine;small inducible cytokine A28;small inducible cytokine subfamily A (Cys-Cys), member 28;small-inducible cytokine A28 APPROVED protein-coding 17700 05577 605240 REVIEWED 735784 CCL3 chemokine (C-C motif) ligand 3 This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010] 17 17 q12 31439715 31441619 - 34415602 34417506 - 1580863;2307114;2307143;2307145;6480464;5683876;5135051;6484113;6907045;7240710;7175323;7175169;7241797;6906908;7241804;7241810;7241813;7241814;2307059;7241818;7241819;7241820;7241825;7241836 17666800;17052673;16844401;21285114;21268133;21370451;22613545;20688906;20482449;18941245;18941229;18846416;18187931;17898087;17684420;17298994;17220320;15155903;10353879 15001559;10660125;10857861;10734056;10679098;10072545;10841574;10706735;19527514;19494336;19463769;19074730;19055602;19019335;18818748;18802359;18762952;18689282;18678243;18619972;18559339;18346864;18242850;18196935;18164590;18076643;18070228;17914560;17656823;17625600;17572013;17357337;17330138;17270460;17005260;16849642;16712957;16507178;16439481;16427155;16379602;16234357;15728180;15602730;15588341;15585099;15489334;15077296;14733721;14680814;12771199;12651617;12651610;12603824;12560229;12543931;12506012;12477932;12447751;12445801;12413001;12401480;12393716;12393595;12377943;12370381;12218153;12200385;12186702;12070155;11861262;11751963;11700073;11461120;11278300;11086082;10985253;10964543;10843431;10751368;10602409;10490959;10477718;10347159;10202040;10201982;10198043;9973507;9885903;9520456;9405404;9366434;9207199;9175116;9092555;8687429;8613703;8573157;8568261;8541527;8525373;8460127;7695626;7594543;7545673;7537510;3279154;3086300;3058856;2521882;2271120;1972563;1694014;1296815;1004873;16393999;10644351;9653130;10446313;10089882;11023526;16160188;15481145;12089333;11602715;16697675;10820198;9658081;9576751;9420238;9359702;8906795;8898753;15638726;12370346;16354571;15817944;15780175;15142381;12960275;12574335;10470075;8077676;15531890;20725607;12408680;15067078;19587705;19841187;19917679;20041127;20042585;20056178;20124101;20518837;20420712;20702408;20959807;21030011;20650649;21115978;21368236;21082024;23151487;22727097;21403648;21784977;12032188;15764707;19523456;9407497;22307528;22691208;21890375;22042700;21756796;22118025;22156348;23334651;22146622;22085486;22295852;23233369;23711864;23223135;23029252;17765942;18945465;18991615;19234184;19436054;20015995;20368576;20380698;20403075;20817073;21118814;22187158;22407921;23152559;8699119 6348 A0N0R1;P10147 ABBA01011243;AC069363;AF043339;AMYH01008363;BC071834;BC171831;BC171891;BX103455;CH471147;D00044;D63785;D90144;EF064769;M23178;M23452;M25315;NG_027730;NM_002983;S82234;X03754;X04018 AAA35858;AAA36316;AAA57255;AAB47170;AAC03539;AAH71834;AAI71831;AAI71891;ABK41952;BAA00029;BAA09855;BAA14172;CAA27388;CAA27643;EAW80100;NP_002974;P10147 Hs.514107 1733394;1792700;1792702;2217120;5111072 CCL3_2642;D17S1268;PMC156734P1;PMC156734P2;RH68318 G0S19-1;LD78ALPHA;MIP-1-alpha;MIP1A;SCYA3 C-C motif chemokine 3;G0/G1 switch regulatory protein 19-1;LD78 alpha beta;OTTHUMP00000163953;PAT 464.1;SIS-beta;macrophage inflammatory protein 1-alpha;small inducible cytokine A3 (homologous to mouse Mip-1a);small-inducible cytokine A3;tonsillar lymphocyte LD78 alpha protein APPROVED protein-coding ENSG00000006075 10627 01656 182283;609423 REVIEWED 1345553 CCL9 chemokine (C-C motif) ligand 9 337988 AF128195 19149 1604447 CCL4L2 chemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more telomeric gene. [provided by RefSeq, Jul 2008] 17 17 q12 31664147 31665674 + 34640034 34641841 + 6484113;6480464 18464913;16625196;15843566;15489334;15028295;14673550;12477932;12401480;12355456;12070155;10540332;9521068;8661057;8525373;8134838;2809212;2568930;2521882;2521353;2462251;2247088;1972563;1894635;21614014 388372 F8W8W8;P13236;Q50EM6 ABBA01011247;AC131056;AMYH01008361;AY766447;AY766449;AY766450;AY766451;AY766452;AY766453;AY766454;AY766455;AY766456;AY766457;AY766458;AY766460;AY766461;BC070310;BC092445;BC130456;BC130458;BC144393;BC144394;BC146944;BC146958;BC171857;BC171864;M69203;NM_207007 AAB00790;AAH70310;AAH92445;AAI30457;AAI30459;AAI44394;AAI44395;AAI46945;AAI46959;AAI71857;AAI71864;AAX07295;AAX07296;AAX07297;AAX07298;AAX07299;AAX07300;AAX07301;AAX07302;AAX07303;AAX07304;AAX07306;AAX07308;AAX07309;AAX07310;AAX07311;AAX07312;AAX07313;AAX07314;AAX07315;AAX07316;AAX07317;ADR83445;NP_996890 Hs.449862;Hs.515183 5019391;5021014;5091647 PMC152049P1;RH17517;STS-M69203 AT744.2;CCL4L;SCYA4L CC chemokine ligand 4L1;CC chemokine ligand 4L1d2;CC chemokine ligand 4L2;OTTHUMP00000164078;chemokine (C-C motif) ligand 4-like 1, telomeric;chemokine (C-C motif) ligand 4-like 2;lymphocyte activation gene 1;macrophage inflammatory protein-1b2;small inducible cytokine 4-like;small inducible cytokine A4-like APPROVED protein-coding 24066 16689 610757 REVIEWED 1353278 CCL4 chemokine (C-C motif) ligand 4 The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012] 17 17 q12 31455333 31457127 + 34431220 34433014 + 1580863;5130902;68880;5130904;5130907;5130914;5130915;5130905;4143497;4892091;5130900;5130901;5130903;5683913;5683919;5683893;5683906;5683873;5683892;5683876;5683877;5683895;5683894;5683896;5683905;5683911;5683897;5683874;5683898;5683918;2307059;5683875;6480464;6484113;6907045;6480432 19386685;10679105;20957032;20575639;19786211;18774390;20483921;19046553;16988274;17868461;11475557;18230951;21169727;16238536;17258864;21862610;21914058;17393419;21285114;21273392;16924394;16936328;16773571;21991751;21208283;16250882;21906407;15972509;21113841;17898087;21731074;21767135 10929056;9973507;9759849;2521882;9743377;9558100;10841574;19358850;19258923;19103522;19074730;19057841;19047106;18802359;18623207;18368065;18346864;18203956;18076643;17703412;17644519;17330138;17005260;16963564;16625196;16379602;15897346;15843566;15831560;15645140;15588341;15585099;15529362;15489334;14761932;14746807;14718574;14673550;14582706;12679478;12651610;12603824;12477932;12445801;12427015;12411442;12401480;12393716;12393595;12377943;12218153;12200385;12070155;12036855;11751963;11685466;11470920;11278300;11129109;10985253;10900358;10751368;10608777;10540332;10395844;10049593;9521068;9520456;9405404;8663314;8661057;8525373;8134838;8077676;7622448;7594543;7566098;2809212;2568930;2521353;2462251;2247088;1972563;1894635;9256481;16393999;16841089;10938094;10089882;11023526;16160188;15481145;12089333;11602715;16697675;15638726;12574335;10470075;11485305;11313374;10820198;10644351;9658081;9576751;9420238;9359702;8906796;8906795;8898753;16354571;15817944;15780175;15142381;12370346;21464938;15067078;19328808;19565503;19620252;19841187;19846870;19917679;20056178;20200978;20503287;20482449;20952681;20702408;20959807;21030011;21082024;23509148;22085486;21890375;10679098;21978000;22156348;7545673;8699119;17431094;17765942;19234184;20380698;20403075;20504918;20598119;20817073;20855878;21264298;22407921;23152559 6351 P13236;Q7M4M2 AA362169;ABBA01011244;AC069363;AMYH01008363;AY312578;AY766446;AY766448;AY766459;BC027961;BC104226;BC104227;BC107433;CH471147;CR542119;J04130;M23502;M25316;M57503;NG_033066;NM_002984;X16166;X53683 AAA36656;AAA36752;AAA51576;AAA57256;AAI04227;AAI04228;AAI07434;AAR16183;AAX07292;AAX07293;AAX07305;AAX07307;CAA34291;CAA37723;CAG46916;EAW80098;NP_002975;P13236 Hs.75703 1791366;2117721;2144303;2156901;5019391;5021014;5091647;5493613 G28333;PMC108024P1;PMC152049P1;RH11493;RH17517;STS-M69203;STS-X53683;UniSTS:489733 ACT2;AT744.1;G-26;HC21;LAG-1;LAG1;MGC104418;MGC126025;MGC126026;MIP-1-beta;MIP1B;MIP1B1;SCYA2;SCYA4 C-C motif chemokine 4;CC chemokine ligand 4;G-26 T-lymphocyte-secreted protein;HC21;LAG-1;MIP-1-beta(1-69);OTTHUMP00000163963;PAT 744;SIS-gamma;T-cell activation protein 2;lymphocyte activation gene 1 protein;lymphocyte-activation gene 1;macrophage inflammatory protein 1-beta;secreted protein G-26;small inducible cytokine A4 (homologous to mouse Mip-1b);small-inducible cytokine A4 protein-coding 10630 01657 182284 REVIEWED 1354210 CCL4L1 chemokine (C-C motif) ligand 4-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more centromeric gene. [provided by RefSeq, Jul 2008] 17 17 q12 31562581 31564388 + 34538468 34540275 + 6480464;6484113 19279442;19148142;18464913;18368065;17330138;16625196;15843566;15489334;15028295;14673550;12477932;12401480;12355456;12070155;11685466;10540332;9521068;8661057;8525373;8134838;2809212;2568930;2521882;2521353;2462251;2247088;1972563;1894635;19898927;20659124;21614014 9560 F8W8U7;F8WAL9;P13236;Q50EM6 AC131056;AC233699;AMYH01008363;AX400017;AY079147;AY766447;AY766449;AY766450;AY766451;AY766452;AY766453;AY766454;AY766455;AY766456;AY766457;AY766458;AY766460;BC070310;BC092445;BC130456;BC130458;BC144393;BC144394;BC146944;BC146958;BC171857;BC171864;CD366524;CD521054;NM_001001435;X53682 AAH70310;AAH92445;AAI30457;AAI30459;AAI44394;AAI44395;AAI46446;AAI46945;AAI46959;AAI48785;AAI71857;AAI71864;AAL87008;AAX07294;AAX07306;AAX07308;AAX07309;AAX07310;AAX07311;AAX07312;AAX07313;AAX07314;AAX07315;AAX07316;AAX07317;CAA37722;CAD33461;NP_001001435;Q8NHW4 Hs.449862;Hs.515183 5019391;5021014;5091647 PMC152049P1;RH17517;STS-M69203 AT744.2;CCL4L;CCL4L2;LAG-1;LAG1;SCYA4L C-C motif chemokine 4-like;MIP-1-beta;chemokine (c-c motif) ligand 4-like;lymphocyte activation gene 1 protein;macrophage inflammatory protein 1-beta;macrophage inflammatory protein-1b2;monocyte adherence-induced protein 5-alpha;small inducible cytokine 4-like;small inducible cytokine A4-like, chemokine (C-C motif) ligand 4-like;small-inducible cytokine A4-like APPROVED protein-coding ENSG00000205020 10631 16030 603782 REVIEWED 1348981 CCM3 cerebral cavernous malformation 3 7240710 9811928 9226 1575 603285 1352377 CCL7 chemokine (C-C motif) ligand 7 This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008] 17 17 q11.2-q12 29621353 29623369 + 32597240 32599256 + 1580863;5130979;5130980;5130981;5130985;5129686;5130983;4145109;5130982;5130984;5130978;6480464;6483763;5135067;4891421;6483776;6483785;6483834;6483764;4891422;6483784;6483818;6483824;6483772;6483781;6483765;6483766;6483814;6483771 19965981;18490489;16888287;15191918;20045013;21388664;17982926;19828696;18579545;20027288;22215510;19131226;20151806;9800627;18492752;21830856;10433925;12127674;11090473;20646081;16270028;21327296;17719030;9655469;21986287 10770925;7916328;9780207;10201901;19424580;19258923;18660381;18469140;17703412;17364026;17023422;16002730;12098517;11781181;11146155;10947989;10734104;10570327;10525044;10477718;10205198;9789057;9405404;9364936;9346360;9109648;8898111;8642344;8580362;8530354;8461011;8318676;7545673;1613466;16169070;15715950;15489334;15381085;15340161;15194816;14733956;14571188;13679391;12847692;12539042;12477932;12149192;20570966;20628624;15067078;19403065;19423540;19865101;19898927;19937793;20056178;20237496;20406964;20438785;20503287;21072187;21102463;21148795;18533557;19253530;21279498;22614322;10072545;10660125;21536288;22468089;22412388;19322201;19526283 6354 A8MVH1;A8MX17;P80098;Q7Z7Q8 ABBA01011212;AC005549;AF043338;AMYH01008350;BC070240;BC092436;BC112258;BC112260;CD523198;CH471147;NM_006273;X71087;X72309 AAC03538;AAH92436;AAI12259;AAI12261;ADR83446;CAA50405;CAA50406;CAA50407;CAB59723;EAW80210;NP_006264;P80098 Hs.251526 1745475;1791574;2130523;2217122;5492389 CCL7_3334;D17S2013;GDB:607772;PMC115222P3;UniSTS:480900 FIC;MARC;MCP-3;MCP3;MGC138463;MGC138465;NC28;SCYA6;SCYA7 C-C motif chemokine 7;OTTHUMP00000163801;monocyte chemoattractant protein 3;monocyte chemotactic protein 3;small inducible cytokine A7 (monocyte chemotactic protein 3);small-inducible cytokine A7 APPROVED protein-coding ENSG00000108688 10634 01150 158106 REVIEWED 1349694 CCL8 chemokine (C-C motif) ligand 8 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Jul 2013] 17 17 q11.2 29670179 29672534 + 32646066 32648421 + 1580863;4892067;4892091;5131089;5131087;6480464 19571824;16988274;20625511;20970515 12149192;11087354;11083865;10734104;10477718;9730840;9558113;9405404;9115216;9070881;9005985;8898111;9468473;9119400;10734056;19415413;19258923;19224633;19019335;18835932;18818748;18684849;18660381;18636124;18602166;18256320;17703412;17487826;15644410;15607028;15489334;14647058;13679391;12539042;12477932;8661057;8189067;2518726;1613466;20181935;19423540;19527514;19865101;20056178;20406964;20438785;20503287;21220697;21514686;21945122;22412388 6355 P80075 ABBA01011214;AC011193;AMYH01008350;BC126242;CH471147;NM_005623;X99886;Y10802;Y16645;Y18047 AAI26243;ADR83451;CAA68168;CAA71760;CAA76341;EAW80207;EAW80208;NP_005614;P80075 Hs.271387 5492609;5492771 UniSTS:481767;UniSTS:482420 HC14;MCP-2;MCP2;SCYA10;SCYA8 C-C motif chemokine 8;OTTHUMP00000163792;monocyte chemoattractant protein 2;monocyte chemotactic protein 2;small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2);small-inducible cytokine A8 APPROVED protein-coding ENSG00000108700 10635 03791 602283 REVIEWED 1317623 CCM2 cerebral cavernous malformation 2 This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 7 7 p13 45006312 45082594 + 45039345 45116069 + 1600689;1580863;2293891;6480464;6484113;7240710;7240533 17160895;17481747;20626350 16037064;14740320;19318350;19199464;19151728;19088124;19088123;18300272;17657516;17440989;17290187;16769843;16373645;16239636;15498874;15489334;14702039;14624391;12774951;12690205;12477932;9811928;19151727;19913121;20628086;16344560;18469344;19475721;19688696;19755102;20308363;20379614;20419355;21029238;21569831;23000020;21543988;20301470;22378217;21044950;22684070;22415356;22782892;23266514 83605 C9JUH3;E9PEC4;H7C516;Q8TAT4 AACC02000110;ABBA01058244;ABBA01058245;ABBA01058246;ABBA01058247;AC004847;AC013416;AF370392;AI538498;AK025807;AK098005;AK124060;AK298671;AK303534;AL832992;AMYH01017220;AMYH01017221;BC004903;BC008859;BC016832;BC025958;BC063663;BX641167;CH236960;CH471128;DA420491;NG_016295;NM_001029835;NM_001167934;NM_001167935;NM_031443;NR_030770 AAH04903;AAH08859;AAH16832;AAH25958;AAH63663;AAQ15228;ADZ15377;BAG53562;BAH12842;BAH13982;CAH56307;EAL23746;EAW61058;EAW61059;EAW61060;EAW61061;EAW61062;EAW61063;EAW61064;EAW61065;EAW61066;NP_001025006;NP_001161406;NP_001161407;NP_113631;Q9BSQ5 Hs.148272 1662625;1671289;1672271;1680886;1763757;2119062;2121720;2132989;2154676;2176611;5022200 GDB:1317296;GDB:4585131;L18426;RH12217;RH36401;RH36463;RH79068;RH79690;SHGC-147434;STS-T90101;WIAF-2107 C7orf22;MGC4067;MGC4607;MGC74868;OSM;PP10187 OTTHUMP00000159554;OTTHUMP00000214270;OTTHUMP00000214271;OTTHUMP00000214273;cerebral cavernous malformations 2 protein;malcavernin APPROVED protein-coding ENSG00000136280 21708 09719 603284;607929 REVIEWED 3398802 CCNB1IP1P1 cyclin B1 interacting protein 1 pseudogene 1 1 1 1 p34.1 43706806 43708023 + 45196515 45197654 + 45423760 45425248 + 728887 ABBA01050900;AL136380;AMYH01000569;NG_015864;NG_016546 pseudo 37693 INFERRED 1604061 CCL5 chemokine (C-C motif) ligand 5 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 q12 31222608 31231490 - 34198495 34207377 - 1626251;2303121;2307105;2307059;2307184;2307142;2307143;2307146;2306307;2307192;2307195;2307060;2307065;2306302;2307108;2307141;2307164;2307165;2307171;2307176;2307183;2307196;2307107;2307103;2307177;2307110;2307104;2307112;2307038;2307063;2307114;2307061;2307062;2307064;2307102;2317568;2317567;4889904;4891431;4889977;4892041;4889989;4889990;4890036;4891430;4890012;4891397;4891406;4889906;2317272;4891914;4891915;4145112;4891379;4891434;4891452;4891951;4892131;4890027;4890025;4891481;4891911;4889880;4889905;4889978;4145452;4891446;4891476;4891879;4890030;4890034;4890004;4890015;4891479;4891880;4891448;4891436;4891440;4892021;4889940;4891881;4891884;4890016;4891381;4891912;4891917;4892130;4890028;4890013;4892019;4889998;4890014;4891477;4891916;4892112;4889980;6480464;6484113;6907045 15491423;18656466;15668187;17898087;15542513;17164972;17052673;16843865;11438578;15066130;14611812;19276232;17924206;19104678;18595729;17304115;16284884;16259780;16215387;15882261;15710456;12682842;12610055;16306328;15823807;18222984;16249511;18208670;18469848;18326229;17666800;18978347;18385799;17966842;16855620;16614115;19155524;20482400;20089076;19905967;19701463;19535570;19508392;18290317;20092989;19050296;20400704;20182399;20452453;19617880;18717637;18708360;20833968;20459697;16387809;19752857;20720199;16208318;15833367;18440671;19486528;18790652;20940264;20478301;19840961;20656925;19906920;19729668;19335954;14656931;18076762;19152028;12502811;19558673;19124761;19258635;10384061;19996575;9637726;19099677;19005677;18672096;20430255;18768196;20847078;16455992;11091283;18954648;20350425;19232006;18707039;19703829;18513272;15128813;19756023 17504241;16379602;9517988;17711627;19847187;22401175;22412377;18337562;18336625;18306985;18218038;18217191;18195571;18191726;18186796;18162936;18060801;17990036;17989610;17986095;17984846;17922439;17909104;17884183;17728497;17703412;17700210;17678915;17678722;17674321;17653092;17625600;17620002;17599774;17596666;17585540;17565659;17560067;17541284;17540042;17530998;17519498;15001559;10770925;10734056;10910894;9558100;10713092;10640778;10415069;10490959;10583963;19628738;19607806;19493460;19425063;19420105;19382425;19360811;19349390;19347053;19342158;19334035;19333930;19264973;19258923;19247692;19242540;19240255;19201759;19172384;19157676;19156204;19140875;19124744;19122644;19105348;19099590;19073147;19064579;19017985;18986692;18958622;18956302;18936436;18824472;18800033;18716401;18696265;18678243;18676680;18636124;18559339;18461620;18447907;18439751;18426815;18415893;18385174;18361934;17488389;17426779;17417600;17416433;17413295;17328045;17305874;17207890;17202846;17117952;17112859;17101151;17076674;17075265;17074812;17063508;17038526;17027916;17018392;17016617;17015691;17005260;16997300;16995340;16988194;16911685;16897666;16865553;16864989;16864713;16807236;16799229;16791620;16719905;16635746;16564576;16517749;16511411;16507178;16489254;16468043;17494888;16442182;16441357;16437690;15265023;15256089;15239133;15228586;15192276;15140220;15122808;15064621;15021309;15001640;14687706;14687494;14651522;14647058;14637022;12960233;12858455;12847218;12842758;12837926;12819030;12803993;12789231;12763925;12753088;12668159;12663241;12660426;12557141;12509457;12477932;12475226;12462338;12445801;12377943;12359436;12270118;12218153;12204866;12200463;12173306;12165487;12164740;12154092;12139952;16340468;16323127;16314800;16254204;16246299;16239564;16161154;16078996;16046258;16032408;16029496;16024972;15978191;15971427;15923218;15899487;15890969;15863470;15851378;15850807;15848524;15794069;15793370;15781227;15742444;15740484;15715189;15645140;15611878;15602730;15592421;15588341;15537425;15500552;15489334;15488313;15482330;15471370;15468376;15459010;15368437;15319853;15302103;15280531;12114533;12093895;12081195;11976403;11959378;11929421;11920567;11907119;11897701;11844139;11816717;11751963;11750041;11544456;11509627;11500196;11390394;11197694;11125885;11116158;11083865;10985253;10964543;10477718;10213461;10200305;9889151;9516414;9469451;9405404;9289016;9009162;8663314;8642344;8576227;8573157;8525373;7545673;7542919;7537088;2456327;1691736;1380064;9256481;16393999;16343773;16841089;12089333;11878903;10872839;9826729;15481145;12953261;11602715;11313374;16697675;16206161;15630704;10882583;10820198;10775626;10774549;10644351;9576751;9420238;9359702;8976200;8898753;15857508;16354571;15817944;15780175;15142381;11350939;11449371;22506069;22444510;22664104;20626297;20523058;19913121;20628086;21356384;20725607;20729133;20799037;20805685;21189258;15067078;17416748;18240029;19170196;19201454;19423540;19427114;19458908;19524301;19578796;19625176;19646363;19658300;19692168;19699525;19730683;19779041;19830727;19841187;19846984;19874825;19893003;19917679;19953896;20038229;20186291;20203694;20237496;20299965;20331378;20378664;20395963;20406964;20438785;20453000;20503287;20518834;20531015;7524281;20734064;20884746;20978355;21054877;20869067;20432237;20540976;20861350;2834384;19533303;21376715;22637726;22750227;22797700;22473756;22732186;19703339;20685145;19226274;20484300;20732991;20731692;21196302;10488085;11278738;16778803;1699135;21063127;7544376;8558019;8631850;9139699;9417081;21616095;21252118;21336628;21368236;17192395;22300682;18832695;22857950;23029252;20067109;21335555;18953865;21418786;19080516;21454528;21547257;22490648;21827949;21839152;21586622;21610221;22664781;21486440;21617311;10660125;10841574;21738469;21945445;8699119;9407497;21701779;21510799;21658938;10221653;16712791;19416867;23065234;9120310;21707929;21734400;22691208;21921047;22321225;21671175;23207898;21258798;22494696;22576913;21988832;23071760;21890375;21963154;22095608;22162987;22189589;22265023;22541401;21575514;21638128;22085486;22205974;22282655;22355269;22380870;22447977;7517217;23267209;7689610;22374185;23165450;22271279;22738652;22554651;23480650;17431094;17586317;17765942;18663025;18706447;19455469;19661268;20121167;20403075;21918813;23152559;23039889 6352 D0EI67;K7EJM0;P13501 AA443491;AA486131;AB023652;AB023653;AB023654;ABBA01011239;AC015849;AF043341;AF088219;AF266753;AK312212;AMYH01008356;AW769950;BC008600;BG272739;CB111656;CD695497;CH471147;CR980938;DQ017060;DQ230537;GD136908;GN344039;GQ504011;HY265548;M21121;NG_015990;NM_001278736;NM_002985 AAA36725;AAC03541;AAC63331;AAF73070;AAH08600;AAY22177;ABB69929;ABM82416;ABM85607;ACW84342;BAA76937;BAA76938;BAA76939;BAG35145;CAY55955;EAW80120;NP_001265665;NP_002976;P13501 Hs.514821 1745471;1791592;1791594;1791820;1791822;1791824;1791826;1791828;1791830;1791832;1792772;2164511;5014051;5019174;5022200;5022651;5037552;5109281;5113294 D11S2921;D1S1425;D8S2278;D8S2279;G10660;GDB:607766;L18426;PMC116027P1;PMC116027P2;PMC126614P1;PMC126614P2;PMC126614P3;PMC126614P4;PMC126614P5;PMC126614P6;PMC126614P7;PMC16375P1;RH103439;RH39335 D17S136E;MGC17164;RANTES;SCYA5;SIS-delta;SISd;TCP228;eoCP C-C motif chemokine 5;OTTHUMP00000163880;OTTHUMP00000197106;SIS-delta;T-cell specific protein p288;T-cell-specific protein RANTES;beta-chemokine RANTES;eoCP;eosinophil chemotactic cytokine;regulated upon activation, normally T-expressed, and presumably secreted;small inducible cytokine A5 (RANTES);small inducible cytokine subfamily A (Cys-Cys), member 5;small-inducible cytokine A5;t cell-specific protein P228 APPROVED protein-coding ENSG00000161570 10632 01751 187011 REVIEWED 5488936 CCNB1IP1P2 cyclin B1 interacting protein 1 pseudogene 2 20 44196629 44197446 - 100505892 ABBA01052660;AL121778;AMYH01011937;NG_029632 pseudo 37694 INFERRED 1321661 CCNA1 cyclin A1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 q12.3-q13 35904633 35915008 + 37005967 37017019 + 1580863;2316302;2316304;2289152;6480464;6907045 18612129;10068680;15800920 11076863;10373534;15232106;17353931;9843212;9041194;11256614;19056339;18692784;18372919;17530187;17455244;17098733;17047026;16799873;16449996;16381901;16007189;15829981;15489336;15456866;15342377;15159402;12579332;12477932;12121569;11884610;11733001;11381140;11264176;11172814;10926775;10559988;12190313;12383116;21145461;9636170;9663463;20457893;10196209;10068472;10022926;9244350;8565853;8125298;7969176;7478582;15050687;10679238;11584018;12628165;15649124;8463339;21412159;19379570;20013084;1628647;16774918;16777603;18787932;19668232;19738611;19843677;19886767;20219923;15004027;15138268;8756624;11598016;16159883;22763964;21646351;10652300;22712549;15583032;22500553;21563216;23042265;19423708;10790373;22529286;8397206;8397207;10995387;11340163;12800980;12970441;14681231;14701826;15601848;16191191;16519687;22370483;19786724;21764057;17274640;17308064;19270695;19477924;21628590;9860976;12191604;22718346;7799941 8900 P78396 AA553454;ABBA01021358;AF124143;AK225146;AK301897;AK314261;AK316392;AL359767;AMYH01005038;BC035479;BC036346;BG723613;BT019577;CD171793;CH471075;DC395631;DC396283;DC411883;HH771162;HH771214;NM_001111045;NM_001111046;NM_001111047;NM_003914;U66838;U97680 AAB49754;AAB60863;AAD26337;AAH36346;AAV38384;ABM82229;ABM85414;BAG36926;BAH13579;BAH14763;CAL38250;CBX86286;CBX86312;EAX08565;EAX08566;NP_001104515;NP_001104516;NP_001104517;NP_003905;P78396 Hs.417050 1649651;1675555;1793050;2176427 PMC193706P2;RH25577;RH44746;RH71252 OTTHUMP00000018259;cyclin-A1 APPROVED protein-coding ENSG00000133101 1577 04946 604036 REVIEWED 3476342 CCNB1IP1P3 cyclin B1 interacting protein 1 pseudogene 3 X X X q21.33 94556635 94557851 - 93917910 93919224 - 94031549 94032800 - 100128456 ABBA01064803;AL662819;AMYH01022692;NG_016614 pseudo 37695 INFERRED 1352366 CCNB3 cyclin B3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] X X X p11 54071225 54138495 + 50044280 50111653 + 50027540 50094913 + 1580863;6480464;6907045 18029348;15790807;12185076;11878934;11846420;11531413;10958988;9560267;9520381;9094673;8313904;7666531;7494303;7474100;7474080;21404461;21832049;22387997 85417 Q8WTR6;Q8WWL7 ABBA01060122;ABBA01060123;ABBA01060124;ABBA01060125;ABBA01060126;ABBA01060127;ABBA01060128;AC239396;AJ314764;AJ314765;AJ314766;AJ416458;AJ421672;AJ421673;AJ421674;AK292454;AL137550;AL591367;AMYH01022328;AY927611;BX323840;CH471180;NG_012880;NM_033031;NM_033670 AAI72237;AAI72544;BAF85143;CAB70806;CAC40024;CAC40025;CAC40026;CAC94915;CAD18845;CAD18846;CAD18847;EAW89920;EAW89921;EAW89922;EAW89923;NP_149020;NP_391990;Q8WWL7 Hs.130310;Hs.722420;Hs.722421;Hs.740165 1701958 DXS1334 G2/mitotic-specific cyclin-B3;OTTHUMP00000023292;OTTHUMP00000023293 APPROVED protein-coding ENSG00000147082 18709 02350 300456 REVIEWED 1344204 CCM2L cerebral cavernous malformation 2-like 20 20 20 q11.2 27354603 27376342 + 30061914 30083644 + 30598245 30619984 + 6480464 16344560;15489334;14702039;12477932;11780052;20237496 140706 Q5JYR8;Q9NUG4 ABBA01019285;ABBA01019286;ABBA01019287;AK057090;AK125588;AL031658;AMYH01011833;AMYH01011834;BC019892;BC030254;BC032455;CA406781;CH471077;DA936380;DB331650;NM_080625 AAH30254;AAH32455;BAB71363;BAG54219;EAW76395;EAW76396;EAW76397;NP_542192;Q9NUG4 Hs.382151;Hs.638682 1690446;1857526 RH36037;RH80084 C20orf160;FLJ43600;dJ310O13.5 CCM2-like;OTTHUMP00000030570;cerebral cavernous malformations 2 protein-like;hypothetical protein LOC140706;uncharacterized protein C20orf160 APPROVED protein-coding ENSG00000101331 16153 12753 VALIDATED 1348754 CCNA2 cyclin A2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. In contrast to cyclin A1, which is present only in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M transitions. [provided by RefSeq, Jul 2008] 4 4 q27 122957975 122964342 - 122737599 122745088 - 1580863;2293344;2293347;2293346;2293348;6480464;6484113;6907045 16452231;10713672;14696091;16820573 17361108;15890360;17254966;1312467;7969176;16109376;19363140;19056339;18829481;18676680;18668132;18667424;18635963;18572908;18490441;18471975;18391017;18368381;17917837;17698606;17636382;17593077;17495531;17445807;17359356;17316413;17255290;17208191;17013808;17001081;16823179;16774918;16708383;16670718;16540140;16407256;16398674;16344560;15815621;15671017;15649889;15601848;15489334;15199159;15187102;14993212;14749377;14747563;14646596;14645522;14579410;12742823;12673206;12601350;12501191;12477932;12444551;12439743;11980909;11907280;11896577;11884610;11698641;11310559;11238922;10924145;10884347;10871850;10864927;10679238;10673397;10581175;10540350;10525536;10373534;9889196;9858587;9820826;9660973;9632134;9566895;9244350;9199321;9020058;8756328;8684460;8662825;8626584;8502485;8253383;8230483;8202514;8024548;7630397;1967822;1962755;1830372;1675006;1532458;1387877;15050687;17679094;12947099;12853968;15355997;21472690;22158041;8647086;9053846;9380407;9716181;9724724;10559858;11931757;14695896;15649124;16009130;10766737;15469821;8475101;15652749;8423786;15782160;15674323;15558010;15306814;15800651;18246796;19170196;19176011;19483727;19596857;19614764;19615732;19625176;19671680;19684852;19692168;19703905;19738611;19822658;19858290;19864233;19901524;20133761;20193482;20453000;8798463;9054499;16123593;16575904;21078875;20126974;20733051;20800603;20660152;21336306;11237594;11598016;15557281;15647383;20857402;15239650;18184650;16290148;16327805;23160376;8756624;9190208;21464733;21148318;10486249;11259605;12676926;14656438;14985333;15189033;15455144;15828833;23115005;23455922;11377199;12006580;12044161;8626527;9885575;21046779;21858804;12941338;22745723;20360068;21871181;21952639;21813648;17043677;21139048;21903422;21906983;17868400;19826003;20160477;21264543;9311993;22232705;19773423;22465120;11940657;18604603;19631451;21145461;21596315;22711989;11983168;18485873;19098431;21308745;21447625;7553852;21762277;10339564;11113184;12244298;12857729;15800615;21241890;21963094;23065011;8463339;9660939;23028682;22718829 890 P20248 ABBA01044731;AC079341;AF518006;AK291931;AMYH01014492;AW276578;BC104783;BC104787;CH471056;CR407692;DA748568;NM_001237;X51688;X68303 AAI04784;AAI04788;AAM54042;AAY40969;BAF84620;CAA35986;CAA48375;CAG28620;EAX05246;NP_001228;P20248 Hs.58974 1646861;1652185;1655983;1662440;1663932;1793356;1793874;1793924;2172869;2217124;5120055;5492166 CCNA2_2853;D4S3147;GDB:193706;PMC212738P1;PMC303366P2;PMC309637P3;PMC317048P1;SHGC-24740;SHGC-50809;SHGC-59677;STS-N20583;STS-N26050 CCN1;CCNA OTTHUMP00000164087;cyclin-A;cyclin-A2 APPROVED protein-coding ENSG00000145386 1578 00453 123835 VALIDATED 1347204 CCND2P cyclin D2 pseudogene 11 11 11 q13 60334632 60335584 + 62767133 62768085 + 63010557 63011509 + 1386336;1386335 895 ABBA01003253;AMYH01003693;AP001880;M91003;NG_001092 pseudo 1584 INFERRED 736281 CCNC cyclin C The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q21 100096984 100123411 - 99990263 100016690 - 1580863;6480464 7568034;17385550;17089020;16341674;15863722;15175163;15084261;14574404;12600719;12584197;12477932;11416138;10235266;10198638;10024883;9734358;9710619;9443979;9121429;8833152;8700522;8125298;7738192;7698009;1833066;1260071;9150135;18508766;11867769;12392551;19683536;19967789;17207965;19914168;23322298;10353252;20133760;10882111;21890473;21906983;10993082;15328539;23563140;23630251;21729782;21988832;22024040;21806996 892 E5RFK5;E5RFX8;E5RHL8;E5RI39;E5RIH8;G5E954;H0YBQ5;J3KP90;P24863;Q5JV82;Q7Z4L3 AB125137;ABBA01014480;AK130983;AK222768;AK223247;AK291914;AK298558;AL137784;AMYH01016537;BC010135;BC026272;BC030159;BC041123;BC050726;BC056153;BM788717;CH471051;M74091;NM_001013399;NM_005190;U40739 AAC50825;AAH10135;AAH26272;AAH41123;AAH56153;ADQ32557;BAD00144;BAF84603;BAG60753;EAW48465;EAW48466;EAW48467;EAW48468;NP_001013417;NP_005181;P24863 Hs.430646;Hs.633351 1680250;1714849;1726603;2106973;2140153;2158474;2159092;2169672;2179408;5037552 CCNC_7758;D8S2279;G62534;RH120419;RH17736;RH63708;RH77919;RH78338;RH80330;SHGC-34355 CycC OTTHUMP00000016897;OTTHUMP00000225533;OTTHUMP00000225534;OTTHUMP00000225536;OTTHUMP00000225537;OTTHUMP00000225538;OTTHUMP00000225539;OTTHUMP00000225540;OTTHUMP00000225541;SRB11 homolog;cyclin-C;hSRB11 APPROVED protein-coding ENSG00000112237 1581 00456 123838 REVIEWED 733179 CCNB1 cyclin B1 The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. [provided by RefSeq, Jul 2008] 5 5 q12 68498669 68509828 + 68462837 68474072 + 1358139;1580863;2296040;2315934;2315936;2315937;2289230;2315935;2293596;2315938;2315939;2315940;2315046;2315941;2316310;2315990;2315991;2314685;2315994;6480464;6907045 12610511;19957331;19608149;19223507;17483252;19666607;18006855;16614707;11146550;10193948;12670908;16557593;20031167;18278459;17342310;19298605;16242239 8756624;9001210;10373560;11285280;10793135;1717476;10395539;1384126;1828290;7799941;11598127;12791267;16109376;19470724;19369249;19293801;19028417;18820706;18799590;18692784;18671143;18593994;18491248;18414058;18408012;18372919;18353325;18337751;18281511;18195732;18048386;17881737;17668170;17655707;17598982;17533373;17513602;17495533;17495531;17472438;17466630;17445807;17408621;17388661;17386261;17373649;17359356;17359284;17242210;17242184;17167975;22163316;17431037;22158041;22266860;8397206;8397207;9053846;16880739;16784539;16478538;16322753;16273239;16237118;16221667;16142332;16009132;15931389;15790566;15767402;15710382;17098733;15635413;15541388;15489334;15215233;15181148;15016823;14760118;14645578;12865421;12839990;12775724;10799291;11562349;11751633;11836499;15623561;18471975;21145461;21596315;22529100;22532137;12738867;12684677;12612082;12586340;12515609;12483522;12477932;12468530;12447691;12424202;12397081;12379461;12200597;12124778;12115375;12068134;12054478;12009577;11960377;11878934;11809526;11779217;11732576;11691994;11642719;11572993;11531413;11444800;11310559;11260656;11242082;10958988;10864927;10716937;10581175;10421840;9926943;9813064;9679058;9560267;9520381;9499405;9244350;9094673;8662825;8402895;8101826;7876309;7843284;7737117;7666531;7494303;7474100;7474080;2570636;1836978;1387877;1386342;8524869;16751065;15265780;17679094;10973963;9891079;10362260;15989971;15916961;15654331;8475101;9515786;11331587;8070405;8463339;11559705;11278247;16407259;17327911;17389604;19505905;19609944;19614764;19724852;19738611;19763267;19968870;20095356;20097574;20103625;20171170;20360007;20368335;20404109;20412769;20453000;20508983;7769006;9247342;20526282;21276999;19855194;20334896;16479161;16799550;20808790;15256223;16474839;18591933;20937773;20733055;20661218;12097298;16082198;16159883;16226712;20660152;20810654;20927403;21336306;19134343;18059335;20080579;20228808;20367638;21148318;15024056;18652313;22905155;22682366;22939629;20890132;17850284;14993212;20169205;21488187;21569376;21525341;21379580;12524548;19475398;19820702;20360068;21952639;8889548;10995390;22965228;9885575;21174181;21504622;21871181;21925791;16275333;16921029;17586317;18445273;19275580;19275586;19344781;19458171;19825974;20956543;21489275;22552851;21965721;19786724;22137483;7903056;14701726;15749827;20383333;20733051;20965177;21900495;22193957;21139048;21890473;21906983;22157815;22071694;22482362;17274640;17360335;19826003;20160477;21120602;21264543;21628590;22391203;22508987;22726437;22024133;21900748;22286100;22253775;10339564;21241890;21963094;22014574;22024040;23007861;23091007;23239745;23253261;23383273;11113184;11238118;23114644;9315635;22580043 891 D6RHI0;E9PC90;H0Y9U8;H0YA62;P14635;Q5TZP9 ABBA01048284;AC010273;AC022107;AI972071;AK289431;AM851053;AMYH01015145;AY027761;AY027762;AY027763;AY027764;AY027765;AY027767;AY027768;AY027769;AY027770;AY338491;BC006510;BI253686;BM979016;BT020128;CH471137;HH771226;M25753;NM_031966;S74452;U22364 AAD14154;AAD14818;AAH06510;AAK27417;AAK27418;AAK27419;AAK27420;AAK27421;AAK27422;AAK27423;AAK27424;AAK27425;AAP88038;AAV38930;ABM83901;BAF82120;CAO99273;CBX86318;EAW51306;NP_114172;P14635 Hs.23960 1789811;1789813;1789815;1789817;1792168;1794560;1794562;1795482;2182452;5491846 CCNB1;CCNB1_1683;G31135;PMC138289P1;PMC31860P1;PMC31860P2;csnpccnb1-pcr3-1;csnpccnb1-pcr6-1;csnpccnb1-pcr7-1;csnpccnb1-pcr9-1 CCNB G2/mitotic-specific cyclin B1;G2/mitotic-specific cyclin-B1;OTTHUMP00000123478;OTTHUMP00000221981;OTTHUMP00000223023 APPROVED protein-coding ENSG00000134057 1579 00454 123836 REVIEWED 1350463 CCND3P cyclin D3 pseudogene 10 10 p11.23 30457042 30457669 - 30692123 30692750 - 1386336;1386335 897 ABBA01034345;AL161651;AMYH01002217;M90815;NG_001093 1654365 AFMa348zg9 pseudo 1586 INFERRED 1342952 CCNB1IP1 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004] 14 14 14 q11.2 640677 662605 - 19849369 19871297 - 20779527 20801471 - 1580863;6480464 16712791;12612082;16532029;16381901;16344560;16189514;15489336;15489334;14702039;12477932;11230166;11076863;8889549;8125298;16341674;21832049;21906983;21779533;21628590 57820 G3V5E6;G3V5Q4;G3V5S3;H0YJ70;H0YJB2;Q9NPC3 AA101731;ABBA01061223;ABBA01061224;ABBA01061225;AF216381;AI301662;AK026233;AK225253;AK225451;AK226037;AK309183;AL161994;AL355075;AL356019;AMYH01005585;AMYH01005586;BC000369;BC001218;BC004435;BI763317;BI771433;BI917081;BM741413;BX161423;BX161424;BX247978;BX334446;CB113193;CH471078;CS072465;DB029392;NM_021178;NM_182849;NM_182852 AAF36386;AAH00369;AAH01218;AAH04435;BAB15403;CAB82326;CAD61896;CAD61897;CAD62312;CAI93603;CAL37971;CAL38527;EAW66479;NP_067001;NP_878269;NP_878272;Q9NPC3 Hs.107003;Hs.741214 1688574;1764671;2147659;2151852 A002Q36;G36286;RH36757;SHGC-148260 C14orf18;HEI10 E3 ubiquitin-protein ligase CCNB1IP1;OTTHUMP00000163984;OTTHUMP00000163985;OTTHUMP00000163986;OTTHUMP00000244397;cyclin-B1-interacting protein 1;enhancer of invasion 10;human enhancer of invasion 10 APPROVED protein-coding ENSG00000100814 19437 07000 608249 VALIDATED 1317801 CCNB2 cyclin B2 Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008] 15 15 q22.2 57184612 57204536 + 59397284 59417244 + 1580863;6480464;6907045 17388661;10958988;15232106;1717476;11256614;19223528;18692784;17549666;17533373;15489336;15489334;14718574;14702039;12727876;12482752;12477932;11960377;11878934;11531413;11230166;11076863;17289878;16381901;9926943;9560267;9539739;9520381;9094673;8125298;8070405;7737117;7666531;7494303;7474100;7474080;19738611;18591933;19454010;20660152;21161946;19664331;22939629;9356466;20360068;19786724;20972266;21139048;21890473;23282137;22916037 9133 H0YMP3;O95067 AB020981;ABBA01038969;ABBA01038970;AC092757;AF002822;AF087910;AK001404;AK222611;AL080146;AM851054;AMYH01006683;AY864066;BC105086;BC105112;BT019458;BU934242;CH471082;CR533527;HH771252;NM_004701 AAD09309;AAI05087;AAI05113;AAP97207;AAV38265;AAW34361;BAA78387;BAD96331;BAG50905;CAB45739;CAG38558;CAL38454;CAO99274;CBX86331;EAW77563;NP_004692;O95067 Hs.194698 5023459 WI-11753 HsT17299 G2/mitotic-specific cyclin-B2;OTTHUMP00000163570 APPROVED protein-coding ENSG00000157456 1580 04131 602755 REVIEWED 730903 CCND2 cyclin D2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. [provided by RefSeq, Oct 2008] 12 12 p13 4253199 4284777 + 4382902 4414522 + 1581171;1580863;2289152;2289159;2289160;2289180;2289181;2289149;2289150;2289151;2289153;2289156;2289157;2289154;2289155;2289158;2296039;2296041;2296038;6480464;6907045 15755896;15800920;18068478;18055803;15654821;15059925;17549626;17017434;17016690;15797629;14601057;11994539;15747581;15131050;11289162;17167184;11358847;17270028 19252133;19124506;18950845;18930031;18827403;18714005;18635970;18507837;18483325;18431519;18391076;18281541;18174243;17882269;17873913;17486076;17409409;16548914;16189514;15613482;15509806;15489334;15245432;15169570;15065884;14641107;14612939;14581343;12777997;12771922;12477932;12112307;11992406;11839508;11726322;11469683;11301189;11285977;11254678;11209538;11042687;10508165;10398124;9858559;9422379;11896535;8114739;19641124;19577536;19258477;9003781;8945475;8887674;8621559;8455931;8343202;8125298;7739547;1386336;1386335;11360184;11311237;16357142;15735688;15531890;11291051;16182291;16287839;16765349;19107115;19464003;19608671;19618401;19679881;19738611;19890848;20066902;20414251;19508551;18504428;21048031;20628624;20677014;19945765;20473882;20939487;21039844;20418948;21059263;9885575;22848417;23000965;19379567;21504716;20077038;21521747;21790895;21878650;22954617;23266556;23348698;21139048;21906983;22395070;21479697;22323446;22330340;10049762;21745168;22004425;9178893;11900540;18029348;22048254;8756624;23466356;22853316;23255553;23222517;23251661;23263487;23377640;23459443;22534667 894 H0YGD4;P30279 ABBA01048766;ABBA01048767;AC006122;AF518005;AI055922;AK223577;AK291146;AMYH01004196;BC010958;BC014357;BC089384;BT019847;BX476896;BX647508;CH471116;D13639;M88080;M88081;M88082;M88083;M90813;NM_001759;X68452 AAA51926;AAA51928;AAH10958;AAH89384;AAM54041;AAV38650;ABM83771;ABM87090;BAA02802;BAD97297;BAF83835;CAA48493;EAW88851;NP_001750;P30279 Hs.376071 1665759;1795230;2137086;2153979;2190527;5017597 CCND2;CCND2_91;D12S1880;EST16F6;RH68283;RH70876 KIAK0002;MGC102758 G1/S-specific cyclin D2;G1/S-specific cyclin-D2;OTTHUMP00000237990 APPROVED protein-coding ENSG00000118971 1583 00451 123833 VALIDATED 68556 CCND1 cyclin D1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008] 11 11 q13 69165054 69178423 + 69455873 69469242 + 704385;1581171;704405;1358139;1580863;704404;704417;704409;2289126;2289128;2289133;2289283;2289336;2289127;2289129;2289130;2289132;1625408;2289139;2289144;2289145;2289147;2289131;2289134;2289337;2296034;2296032;2293574;2296036;2296033;2296037;6480464;6484113;6907045;7240710 12163013;15755896;12668975;11125071;18194538;17908994;12203362;14968434;12649181;17924468;17695500;15538282;14612904;17137605;17055752;16896691;16718823;16696308;15647071;17996899;12602925;18306533;18548202;18301453;18025280;18355450;17440082 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595 F5H437;P24385;Q6FI00 AB075505;ABBA01010292;AF511593;AK299044;AK313136;AMYH01003772;AP001824;AP001888;AY830112;BC000076;BC001501;BC014078;BC023620;BC025302;BM796500;BT019844;BT019845;CH471076;CR536538;CR542099;L09054;M64349;M73554;M74092;NG_007375;NM_053056;S71637;X59798;Z29078 AAA36481;AAA52136;AAA58392;AAH00076;AAH01501;AAH14078;AAH23620;AAH25302;AAM34300;AAV38647;AAV38648;AAV91344;ABM82774;ABM85964;BAG35955;BAG61118;CAA42470;CAA82318;CAG38775;CAG46896;CAL38071;CAL38308;CAL38470;EAW74746;EAW74747;EAW74748;NP_444284;P24385 Hs.523852 1645639;1674820;1741531;1742587;1791966;1792594;1793092;1793868;1794574;1795116;1795484;2150478;5120692 CCND1;CCND1_504;GDB:181402;GDB:197910;GDB:371378;PMC133966P1;PMC154232P2;PMC196063P1;PMC303366P1;PMC321442P2;PMC98458P1;RH67810;WI-16756 BCL1;D11S287E;PRAD1;U21B31 B-cell CLL/lymphoma 1;B-cell lymphoma 1 protein;BCL-1 oncogene;G1/S-specific cyclin D1;G1/S-specific cyclin-D1;OTTHUMP00000237144;PRAD1 oncogene APPROVED protein-coding ENSG00000110092 1582 01346 114500;168461;193300 REVIEWED 4888880 CCNG1P1 cyclin G1 pseudogene 1 6 6 6 q23.2 133766746 133767629 + 133061754 133062459 + 133019922 133020805 + 100130820 ABBA01025878;AL032821;AMYH01016676;NG_012147;NG_022372 pseudo 39177 INFERRED 1312246 CCNDBP1 cyclin D-type binding-protein 1 This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 q14-q15 41264832 41274688 + 43477466 43489375 + 1580863;6480464 10915743;15887118;12437976;19153449;18983464;18923419;17621266;17532760;16501603;16344560;16303743;16189514;12477932;12434312;10854051;10801854;8125298;16169070;17324930;20460530;16951160;17131381;22990118;11118353;17407970;21906983;22453338 23582 B4DHB5;H3BQA6;H3BR23;H3BT91;H3BUF4;Q9NYH3 ABBA01038351;AC068724;AF082569;AF087852;AF113535;AF132034;AF246144;AI953224;AK075146;AK075296;AK124193;AK128849;AK225143;AK225645;AK290665;AK290707;AK295017;AK308817;AL552334;AMYH01006587;AMYH01006588;BC009689;BI911845;BQ439439;CB104739;CH471125;CR450331;CS131150;DA210890;DA506028;DA734945;DB492361;NM_012142;NR_027513;NR_027514;NR_045998;NR_045999 AAD11777;AAF14872;AAF67182;AAF77613;AAH09689;AAP97163;ABM85050;BAC11433;BAC11530;BAC87645;BAF83354;BAF83396;BAG54020;BAG58076;CAG29327;CAJ21094;EAW92588;EAW92589;EAW92590;NP_036274;O95273 Hs.36794 1770291;1775438;2131040;2145136;2152139;2169453;5118444 A002Q01;D11S3316;D15S1287;RH44772;RH71146;STS-R42458;WI-16359 DIP1;GCIP;HHM D-type cyclin-interacting protein 1;HHM Protein;MAID protein;OTTHUMP00000161296;cyclin-D1-binding protein 1;grap2 and cyclin-D-interacting protein;grap2 cyclin interacting protein;human homolog of Maid APPROVED protein-coding 1587 06156 607089 REVIEWED 1317175 CCNE2 cyclin E2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008] 8 8 q22.1 95961628 95976660 - 95892452 95907482 - 1580863;6480464;6907045 9840943;12477932;15232106;9858585;7799941;11907280;7629134;10454565;19107233;19084516;16740753;16620772;12466974;9840927;8889549;17254966;19564413;19603101;19638577;19738611;21832049;21789246;15717329;21906983;22394640;23324394;23324395;23455922 9134 E5RHN2;E5RK20;H0YBQ2;O96020;Q8WUE3 AA830205;ABBA01037468;AC087752;AF091433;AF102778;AF106690;AF112857;AMYH01018895;AP003692;AY850195;BC007015;BC020729;BG720611;BJ990268;CH471060;DB547256;NG_029611;NM_057749 AAC78145;AAC80528;AAD08816;AAD08819;AAH07015;AAH20729;AAV97813;ABM84420;ABM87365;EAW91727;EAW91728;EAW91729;EAW91730;EAW91731;EAW91732;NP_477097;O96020 Hs.521693 1647646;1675319;1795486 CCNE2_76;RH93674;SHGC-30660 CYCE2 G1/S-specific cyclin E2;G1/S-specific cyclin-E2;OTTHUMP00000227247;OTTHUMP00000227248 APPROVED protein-coding ENSG00000175305 1590 04801 603775 REVIEWED 736176 CCND3 cyclin D3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 6 6 p21 42010649 42017530 - 41902671 42016610 - 1580863;1581171;2316011;2316013;2316015;2316016;2316018;2316020;2316019;2316005;2316007;2316012;2316009;6480464;6907045 15755896;17885491;14751136;12853979;11329139;19276076;16311245;18008145;19142864;18679818;16482499;18317945 11896535;15232106;17274640;17517622;8114739;19258477;19237555;19204726;19124506;18701138;18676680;18660489;18570922;18507837;18391076;18358634;18281541;18174243;18084330;18019405;17882269;17698582;17467662;17413032;17409409;17300668;16920920;16916940;16884382;16815849;16569260;16360641;16344560;16322284;16303160;16300731;16287839;16189514;16105657;15671552;15569667;15489334;15358120;15327989;15326477;15305377;15252116;14747476;14702039;14666699;14645576;14641107;14576819;14574404;12890807;12778072;1386336;1386335;1383201;15050687;11311237;16357142;17972097;16169070;1387066;12647795;12611887;12482873;12477932;12130539;12082095;12036888;12011445;11895902;11864973;11726322;11469683;11375949;11360184;11301189;11042687;10891505;10398124;10342870;10318807;9858559;9713342;8887674;8668211;8621559;8490963;7908906;9716181;22362728;16600870;19170196;19473963;19625176;19639271;19692168;19706544;19738611;19820697;19853236;19862010;20097574;20107311;20113529;20453000;20631637;20465575;20821231;21048031;9106657;21832049;21507922;10597239;20229177;22858673;23376478;9545286;21965782;21841808;22037875;8978686;16985050;23160194;16782892;8756624;21988832;22763761;23240690;23222517;23263863;23319000 896 D6RDF8;D6RDL3;D6RI00;D6RIX2;H0Y8M4;P30281;Q5T8J1 AB209825;ABBA01050738;ABBA01050739;ABBA01050740;ABBA01050741;ABBA01050742;ABBA01050743;ABBA01050744;AF517525;AK055519;AK057206;AK096276;AK097856;AK299187;AK303452;AK315421;AL160163;AL513008;AMYH01016298;AMYH01016299;AMYH01016300;AMYH01016301;BC011616;CH471081;CR542246;DA069566;DB001987;DC360231;M88085;M88086;M88087;M90814;M92287;NM_001136017;NM_001136125;NM_001136126;NM_001760;U47285 AAA51927;AAA51929;AAA52137;AAH11616;AAM51826;ABM82674;ABM86056;BAD93062;BAG37810;BAG51531;BAG51884;BAG53245;BAG61231;BAG64497;CAG47042;EAX04070;EAX04071;EAX04072;EAX04073;EAX04074;EAX04075;EAX04076;NP_001129489;NP_001129597;NP_001129598;NP_001751;P30281 Hs.534307 1341803;1775670;1778273;1795232;2115045;2117699;5121720 CCND3_93;D6S1441;D6S1552;D6S2062;G34997;RH16378;STS-N70302 D3-type cyclin;G1/S-specific cyclin D3;G1/S-specific cyclin-D3;OTTHUMP00000016390;OTTHUMP00000016391;OTTHUMP00000223406;OTTHUMP00000223407;OTTHUMP00000223408;OTTHUMP00000223409;OTTHUMP00000223413;OTTHUMP00000223414;OTTHUMP00000223415 APPROVED protein-coding ENSG00000112576 1585 00452 123834 REVIEWED 736837 CCNF cyclin F This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2693713 2723233 + 2419396 2448860 + 2479395 2508859 + 634645;1580863;6480464 7896286 8706131;16344560;15489334;12477932;12122006;10716937;7813445;7626882;21640084;20596027;21963094;23000965;23182110;23486064;22158041;22632967;21139048;21906983;21987572;17215248 899 H0Y2P7;H3BUD3;P41002;Q59HD0 AB208829;ABBA01030256;ABBA01030257;ABBA01030258;AC106820;AK313371;AMYH01007058;BC012349;CH471112;DA960397;DB523776;NM_001761;U17105;Z36714 AAB60342;AAH12349;ABM81701;BAD92066;BAG36170;CAA85308;EAW85510;NP_001752;P41002 Hs.1973 1677304;1680737;5015881 GDB:335751;RH98649;SHGC-12618 FBX1;FBXO1 F-box only protein 1;G2/mitotic-specific cyclin-F;OTTHUMP00000159081;cyclin-F APPROVED protein-coding ENSG00000162063 1591 02574 600227 REVIEWED 736488 CCNE1 cyclin E1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. [provided by RefSeq, Jul 2008] 19 19 q12 34994741 35007059 + 30302901 30315215 + 1358139;1580863;2289228;2289266;2289273;2289336;2289225;2289229;2289230;2289231;2289255;2289267;2289268;2289277;2289281;2289283;2289287;2289293;2289296;2289337;2289265;2289335;2296041;2296035;2296042;2293574;6480464;6484113;6907045 17726548;16949911;17825795;12649181;18089785;17671189;17483252;17483245;17471573;16739882;16538218;17196522;16759516;14968434;16116079;14614307;12847112;12602925;17308103;12713563;11358847;18047954;17647260;18301453 16124066;8662825;20607601;15572661;9891079;8207080;7799941;11907280;7629134;10454565;19617534;19587092;19470724;19321444;19305161;19258477;19179977;19124506;19107593;19064572;19058005;19010853;18959818;18799789;18799628;18607847;18507837;18381935;18281541;18276582;18208561;18174243;17664332;17409409;17360482;17325036;17218276;16912169;16823179;16799991;16761619;16740753;16627785;16609025;16582606;16538501;16504183;16391523;16344560;16322693;15800668;15709169;15708847;15665273;15660127;15611651;15557791;15489334;15467469;15197178;15191351;15178429;15060836;15007381;14965268;14719078;14645251;14612403;14536078;12824885;12778072;12777997;12729791;12647795;12607005;12601350;12553912;12533700;12477932;12444551;12133429;12114499;12101670;12096344;12096339;11919196;11884622;11877298;11838966;11733001;11565033;11533444;11259605;11237742;11221854;11175348;10995387;10995386;10953010;10908655;10851086;10827081;10751146;10581175;10500095;10499591;9840943;9819444;9731206;9525916;9472014;9223324;9192874;9153308;9012818;8861947;8833152;8756624;8649818;8618861;8617791;8253383;8230483;7739542;7698009;1833068;1833066;1388288;1388095;9453249;16289656;15343382;17646408;15004009;12839982;12529437;17525332;11085541;12628165;15469821;14739463;9632134;14999283;21458381;21472690;10359664;10393546;22158041;8647086;8867812;8891332;9053846;9192873;9218599;9380407;9716181;9840927;11940657;16338364;17298674;18508766;18851830;19631451;22120721;22285861;15800651;16109376;16191374;16223725;17192413;17254966;17434132;18029348;18344087;18651214;19423708;19454496;19505905;19561641;19569046;19574535;19585504;19603101;19670700;19713765;19724860;19738611;19787784;19801544;19860623;19925052;20001501;20107311;20171175;20385564;20453000;20508983;21150326;20453888;17822621;20336784;20102401;20530684;20530685;15004027;20465575;19615252;20837705;16818231;15980150;20972438;21048031;21103391;15024056;15557281;17293600;19621596;21092281;23109421;9190208;21179471;21315112;17254967;20587660;21464733;19236751;21746877;21515670;8769642;10790373;21965652;10202152;16765349;9545286;9885575;23543735;19084516;21792910;21620836;21918011;21148318;21952639;18977205;19111882;20837141;22449977;10499802;11132966;11477082;12800980;14701826;15514162;15555599;15670215;17361108;17431037;17970072;22441703;21597324;13678583;15364936;18559665;19318554;21941773;22388891;22558078;8978686;9311993;21750416;15980415;21372285;10339564;21241890;21988832;22763761;23453757;9660939;22763964;23378270;10486249;10593981;12676926;23383003;23455922;11565034;17661632;18455747;22959436;12857729;14985333;19470470;22460364;23185313;9139732;9886493;22958293;23324395 898 C9J2U0;I3L1Q9;I3L413;P24864 ABBA01039551;ABBA01039552;AC008798;AF518727;AK291549;AMYH01009674;AMYH01009675;AU137789;BC035498;BE645164;L48996;M73812;M74093;NM_001238;X95406 AAH35498;AAM54043;ABM84309;ABM87702;BAF84238;CAA64687;CAA64688;NP_001229;P24864 Hs.244723 1680469;1791940;1794646;2220244;5038522 CCNE1;PMC133799P2;PMC341775P1;RH65121;RH80073 CCNE G1/S-specific cyclin-E1;cyclin Es;cyclin Et;cyclin e APPROVED protein-coding ENSG00000105173 1589 00455 123837 REVIEWED 735830 CCNG1 cyclin G1 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 q32-q34 162797155 162804600 + 162864577 162872022 + 634709;1580863;2316022;2316023;2316025;2316027;6480464;6484113;6907045 8954786;16845792;12634633;12214116;9698156 8626390;18981217;18632610;18408012;17868090;17616664;16322753;15489334;15077171;12684677;12556559;12477932;11956189;10196184;10194136;9013862;8887688;8806701;19698214;19584283;19738611;12642871;21832049;23589924;22271581;22105316;21688120;22649121;21988832;22835824 900 B4DLW7;D6RCC5;D6RD30;D6RGX3;E7ERZ1;P51959 ABBA01044183;AC112205;AK297190;AK312913;AK316234;AMYH01015770;AY791292;BC000196;BC007093;BM479568;BT007134;BX538035;BX644635;CH471062;D78341;D86077;L49504;NM_004060;NM_199246;U47413;U53328;X77794 AAB03903;AAC41977;AAC50688;AAH00196;AAH07093;AAP35798;AAV40836;ABM84691;ABW03627;BAA11353;BAA13007;BAG35759;BAG59679;BAH14605;CAA54821;CAD97979;EAW61528;EAW61529;EAW61530;NP_004051;NP_954854;P51959 Hs.79101 1795488;2172804;2172806;5037552 A006A21;CCNG1_505;D8S2279;G20650 CCNG OTTHUMP00000160918;OTTHUMP00000223690;OTTHUMP00000223691;OTTHUMP00000223692;OTTHUMP00000223693;OTTHUMP00000223697;cyclin-G;cyclin-G1 APPROVED protein-coding ENSG00000113328 1592 03345 601578 REVIEWED 1312769 CCNG2 cyclin G2 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008] 4 4 q21.1 78297551 78306970 + 78078357 78091213 + 1580863;6480464;6907045 8626390;18784254;18754885;18025271;17123511;16608856;16364039;12477932;12452053;11956189;8806701;14702039;19559447;19738611;20677014;21532621;22589537;21688120;22596188 901 B4DF25;D6RHI3;Q16589;Q6FGC6;Q8N5D4 ABBA01063371;AC104771;AF549495;AK054785;AK092638;AK292029;AK293899;AL080193;AMYH01014319;BC032518;BT019503;CA429362;CH471057;CR542181;CR542200;DC344594;L49506;NM_004354;U47414 AAC41978;AAC50689;AAH32518;AAN40704;AAV38310;ABM81762;ABM84917;BAF84718;BAG57286;CAG46978;CAG46997;EAX05812;EAX05813;EAX05814;NP_004345;Q16589 Hs.740456 1643674;1850324;1857604;2138287;2152465;2180040 A002S05;Cda1eb10;D4S1351;D4S2551E;SHGC-50382;SHGC-59681 OTTHUMP00000160591;OTTHUMP00000160592;OTTHUMP00000219366;OTTHUMP00000219367;cyclin-G2 APPROVED protein-coding ENSG00000138764 1593 04438 603203 REVIEWED 1314992 CCNJ cyclin J 10 10 10 q23.33 91544376 91561843 + 97793141 97810612 + 97803159 97820627 + 737633;1580863;6480464 12477932 16341674;14702039;17207965;19322201 54619 Q5T5M9 ABBA01021832;AK001757;AK025932;AK092360;AK297264;AK303018;AL356155;AMYH01002970;BC043175;BM789816;CH471066;NM_001134375;NM_001134376;NM_019084 AAH43175;ADQ32987;BAA91887;BAG52537;BAH12533;BAH13880;EAW49984;NP_001127847;NP_001127848;NP_061957;Q5T5M9 Hs.596479 1778534;1778754 RH66368;T16093 bA690P14.1 OTTHUMP00000020165;OTTHUMP00000035219;cyclin-J protein-coding ENSG00000107443 23434 07710 VALIDATED 3516297 CCNJP2 cyclin J pseudogene 2 1 1 91474965 91476106 + 93221371 93222512 + 100418724 ABBA01045534;AC104332;AMYH01000800;NG_022793 pseudo 37997 INFERRED 2290194 CCNI2 cyclin I family, member 2 5 5 5 q31.1 128213236 128219955 + 132111036 132117755 + 132083137 132089856 + 12477932 645121 Q6ZMN8 ABBA01068802;AC004775;AK131553;AMYH01015616;BC132837;BC136836;BC144416;BC144417;NM_001039780 AAI32838;AAI36837;AAI44417;AAI44418;BAD18687;NP_001034869;Q6ZMN8 Hs.714496 1698462;1785372;1800142;1800692;1801360;1801536;1801626;1802400;1821708;1824306;1839512;2001202;2001204;2001206;2001208;2001210;2001212;2001214;2001216;2001218;2001220;2001222;2001224;2001226;2001228;2001230;2001232;2001234;2001236;2001238;2001240;2001242;2001244;2001246;2001248;2001250;2001252;2001254;2001256;2001258;2001260;2001262;2001264;2001266;2001268;2001270;2001272;2001274;2001276;2001278;2001280;2001282;2096422;2096424;2096426;2096428;5091772 ECD00927;ECD01207;ECD01552;ECD01646;ECD01691;ECD02085;ECD11940;ECD13251;ECD20938;REN71513;REN71514;REN71515;REN71516;REN71517;REN71518;REN71519;REN71520;REN71521;REN71522;REN71523;REN71524;REN71525;REN71526;REN71527;REN71528;REN71529;REN71530;REN71531;REN71532;REN71533;REN71534;REN71535;REN71536;REN71537;REN71538;REN71539;REN71540;REN71541;REN71542;REN71543;REN71544;REN71545;REN71546;REN71547;REN71548;REN71549;REN71550;REN71551;REN71552;REN71553;RH102780;SHGC-132851;SHGC-53463;stSG601492;stSG601493;stSG601494;stSG601496 FLJ16793 OTTHUMP00000066078;cyclin-I2 protein-coding ENSG00000205089 33869 PROVISIONAL 1353870 CCNJP1 cyclin J pseudogene 1 7 7 7 p11.2 67346762 67347913 - 56263818 56264969 - 56296324 56297475 - 100128459 ABBA01061860;AC006970;AMYH01017283;NG_017085 CCNJP APPROVED pseudo 22512 INFERRED 1319424 CCNI cyclin I The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. The function of this cyclin has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 75270553 75298504 - 78188189 78216149 - 77969165 77997125 - 1580863;6480464 9705831;17507299;15489334;12477932;8125298;7493655;19322201;17043677;21890473;21906983 10983 B7Z6X4;D6RDK3;D6REZ3;D6RG12;D6RH01;H0YA27;Q14094 AB209766;ABBA01063370;AC104771;AC111196;AF135162;AK222931;AK301111;AK312632;AMYH01014319;AY207372;BC000420;BC004975;BT020019;CH471057;CR541783;D50310;NM_006835 AAF43786;AAH00420;AAH04975;AAO13492;AAV38822;ABM82786;ABM85975;BAA08849;BAD93003;BAD96651;BAG35517;BAH13410;CAG46582;EAX05808;EAX05809;EAX05810;NP_006826;Q14094 Hs.518827 1673421;1706918;1711194;1754619;1849718;2116625;2127144;2127263;2169076;2178185 D4S3098;D4S494;SHGC-132958;SHGC-58048;SHGC-59775;SHGC-64017;SHGC-67650;SHGC-80948;SHGC-85345;STS-N58372 CYC1;CYI OTTHUMP00000160599;OTTHUMP00000219203;cyclin ITI;cyclin-I APPROVED protein-coding ENSG00000118816 1595 16690 REVIEWED 1352503 CCNM cyclin M 9613 1598 1606241 CCNJL cyclin J-like 5 5 5 q33.3 155711187 155772085 - 159611249 159672151 - 159678671 159739573 - 6480464 14702039;12477932 79616 B4DFA1;B4DZA8;E5RFJ6;E7EN43;Q8IV13 ABBA01044221;ABBA01044222;AC112191;AK024228;AK131381;AK294000;AK302823;AMYH01015760;BC013353;BC035871;CH471062;NM_024565 AAH13353;AAH35871;BAB14856;BAD18532;BAG57362;BAG64020;EAW61562;NP_078841;Q8IV13 Hs.14070 1649122;1680533;1699790 A004D48;RH103502;RH70819 FLJ14166 OTTHUMP00000160842;OTTHUMP00000224225;cyclin-J-like protein protein-coding ENSG00000135083 25876 07853 VALIDATED 69470 CCNH cyclin H The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010] 5 5 q13.3-q14 86725838 86744592 - 86690079 86708850 - 1580863;6480464;6907045 17353931;9405375;10583946;8692841;8946909;8692842;1939271;2449431;7629134;7799941;9512541;9582279;9790902;10214908;11313499;12393749;12646563;16782892;7936635;19116388;18854777;18708406;18676680;18614043;18400256;17728339;17707548;17684142;17628022;17575242;17081983;16935935;16492920;16189514;15695176;15489334;15328539;15220921;14702039;14569024;12527756;12477932;12379213;12140753;12049628;11239393;11113176;11062157;11056214;10993082;10973491;10866664;10734072;10639311;10438593;10082552;10066804;10024882;9840937;9765201;9651670;9570510;9465303;9464540;9334327;9311822;9243502;9184228;9130708;9121429;9118957;9118947;9056480;9054383;8934526;8849451;8836101;8628270;8617234;8521818;8302582;8078587;8069918;8001136;7533895;11062469;10958691;17643375;18508765;18950027;19074885;19170196;19270000;19536092;19625176;19692168;19789190;20522537;8521393;9852112;20598140;15342556;16344560;8889548;11673469;14627702;9840943;22939629;11259578;10393546;8647086;9218599;15282296;15698475;11113184;11713533;15530371;21988832;23377640 902 D6RG18;D6RHI7;P51946 AB209342;ABBA01062123;AC018754;AF477979;AI761780;AK094534;AK291720;AMYH01015469;BC005280;BC016705;BC016823;BC022351;BF510957;BG718714;BP244381;BX537673;CB240639;CH471084;CR407658;DA079651;NM_001199189;NM_001239;U11791;U12685 AAA21361;AAA57006;AAH05280;AAH16705;AAH16823;AAH22351;AAL74271;ABM83476;ABM86687;BAD92579;BAF84409;CAG28586;EAW95934;EAW95935;NP_001186118;NP_001230;P51946 Hs.292524 1669317;1788054;1788056;1850963;2176995;5017162 G67291;G67292;RH17996;RH69527;SGC30189;STS-M23379 CAK;p34;p37 CAK complex subunit;CDK-activating kinase complex subunit;MO15-associated protein;OTTHUMP00000147619;OTTHUMP00000222395;OTTHUMP00000222396;cyclin-H;cyclin-dependent kinase-activating kinase complex subunit APPROVED protein-coding ENSG00000134480 1594 09059 601953 REVIEWED 4889025 CCNT2P1 cyclin T2 pseudogene 1 1 1 109797332 109805158 - 111550315 111558141 - 100418763 ABBA01068395;AL360270;AMYH01000945;NG_026970 pseudo 39178 INFERRED 1322457 CCNT1 cyclin T1 This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 12 12 q13.11 47373019 47397048 - 49082241 49110781 - 1580863;6480464 17700062;20431927;16109376;16980611;16916647;16838299;16764723;16615932;16439541;16362050;16308568;15994294;15940264;15913611;15713661;15563843;15528190;15107825;15049426;14972556;14963154;14627702;14580347;14569024;12944920;12942536;12917420;12894230;12887902;12832472;12753906;12727882;12651893;12588988;12486002;12458222;12368330;12368300;12177005;12115727;12065898;12052871;11809800;11780068;11739744;11739686;11730934;11713533;11713532;11704662;11689688;11689614;11549886;11547919;11545735;11504720;11373315;11282025;11145967;11118314;11112772;11080476;10985245;10983978;10964778;10958691;10944537;10931842;10913173;10903436;10866664;10757782;10671520;10661406;10617616;10574912;10545121;10536359;10467404;10465067;10454543;10438593;10393900;10393184;10384302;11884399;10377393;10364329;10364292;10329126;10329125;10082552;10077579;10066804;10049833;9990016;9872325;9843510;9832504;9811724;9765201;9696809;9651670;9649438;9570510;9557739;9491887;9356449;9334326;9334325;8849451;8676484;17168834;15994812;16146763;16035254;15719065;15638724;15473004;15183343;15139295;14984439;16781761;15498776;15905409;15142377;10656684;12883554;12944466;9499409;7853496;12676794;19297489;19179338;18931076;18780834;18773076;18620576;18566585;18391197;18353948;18205180;18039861;17855633;17724342;17690245;17686863;17540406;17502349;17452463;17352406;17317667;17014716;15546612;22592529;19956800;17148452;17643375;18029348;18200011;19387490;19883659;20210365;16893449;19818711;20714219;16601680;16687403;19454010;20943989;20618343;20854876;11673469;23152527;22094252;20153263;20670891;20081228;20811636;21450947;21555514;21763494;21763496;14702039;22342181;21030982;15169877;15201869;15713662;23455922;23539624;23667531;15328539;22939629;22990118;22205749;20305087;12591939;18781797;21139048;21555454;22483617;12494448;16109377;21729782;22323290;22569018;22591364;22771113;23110726;23251033;23274668;23296566;23471103;23569210;11455589;17267505;17289077;17341462;17461970;17537237;17625008;17661632;17907378;18187620;18281698;18483487;18655042;18976462;18991615;19020832;19139066;19223581;19275586;19275730;19435492;19716452;19812265;20018238;20054825;20064163;20227660;20385237;20385240;20471948;19211771;20471949;20535204;20551309;20562857;20571604;20683478;20724442;20808803;20828615;20976203;21035463;21204735;21360054;21709748;21951552;22100159;22190034;22211660;22229121;22253435;22355797;22421880;22422068;22567366;22692005;22959624;23064645 904 A8K4M5;A9XU13;O60563 ABBA01031482;AC079951;AF045161;AF048730;AF255307;AK002085;AK290990;AL832083;AMYH01004434;AMYH01004435;BX098766;BX537514;BX537516;CH471111;EF688064;HY016640;NM_001240;NM_001277842 AAC39638;AAC39664;AAF72184;AAI56507;AAI72543;ABV58572;BAF83679;EAW57998;NP_001231;NP_001264771;O60563 Hs.92308 1700782;1779542;1792086;1792562;1797356;2116613;2137306;2149412;2163647;2186130;5017603 CCNT1;CCNT1_2415;PMC136632P1;PMC153984P1;RH104016;RH17417;RH44408;RH70421;SHGC-153516;SHGC-33565;STS-H84164 CCNT;CYCT1;DKFZp313A1331;DKFZp313N0919;DKFZp313O1211;FLJ11223;HIVE1 CDK9-associated C-type protein;Human immunodeficiency virus-1 expression;OTTHUMP00000243665;OTTHUMP00000243666;cyclin C-related protein;cyclin T1b;cyclin-T;cyclin-T1;human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1;subunit of positive elongation transcription factor b APPROVED protein-coding ENSG00000129315 1599 03938 143055 REVIEWED 1346890 CCNO cyclin O This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 term is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes.[provided by RefSeq, Nov 2010] 5 5 5 q11.2 51479778 51482306 - 54562737 54565265 - 54526980 54529508 - 1580863;6480464 12161446;15489334;15372022;14702039;12477932;8419333;2001396;12171929;10393198;11081631;20870715;21399697;20360068;21226479;18654987;22292079 10309 P22674 ABBA01015739;AC026704;AC091977;AK026075;AMYH01015089;BC004877;BC017345;BC056254;BC143905;BX096363;CH471123;M87499;NM_021147;X52486 AAB05817;AAH04877;AAI60041;BAB15351;CAA36728;EAW54912;EAW54913;NP_066970;P22674 Hs.3041 1669667;1681654;5493385 RH80859;STS-X52486;UniSTS:485916 CCNU;FLJ22422;UDG2;UNG2 OTTHUMP00000222377;cyclin U;cyclin domain containing;cyclin-O;cyclin-like uracil-DNA glycosylase;uracil-DNA glycosylase 2 APPROVED protein-coding ENSG00000152669 18576 06375 607752 VALIDATED 1319329 CCNL2 cyclin L2 The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p36.33 1246539 1260165 + 1310954 1324553 - 1321091 1334718 - 1580863;6480464 18216018;17494991;17081983;16710414;15489334;14702039;14684736;14623875;12477932;8838426;8125298;16344560;21555454;23455922 81669 C9J148;F2Z3J5;J3KRL1;J3QSH2;Q8N3D5 ABBA01016037;ABBA01016038;AC026283;AF087903;AF251294;AK000685;AK026796;AK027770;AK056120;AK057133;AK074112;AK225758;AK292268;AK293451;AL139287;AL391244;AL834432;AL834441;AMYH01000132;AX880620;AY037150;AY116620;BC016333;BC071622;BM153748;CH471183;CR628411;DA360436;NG_029782;NM_001039577;NM_030937 AAG44594;AAH16333;AAH71622;AAK67631;AAM76789;AAP97201;BAB84938;BAF84957;BAG51376;BAG51870;BAG56949;CAD39092;CAD39101;CAE91020;EAW56211;EAW56212;EAW56213;EAW56214;EAW56215;EAW56216;EAW56217;NP_001034666;NP_112199;Q96S94 Hs.515704 1644989;1795492;1848342;2154269;2167544 CCNL2_1347;G31515;SHGC-74123;SHGC-74124;SHGC-74125 ANIA-6B;CCNM;DKFZp761A1210;DKFZp762O195;HCLA-ISO;HLA-ISO;PCEE;SB138 OTTHUMP00000002948;OTTHUMP00000002949;OTTHUMP00000221204;OTTHUMP00000221205;OTTHUMP00000221207;cyclin M;cyclin-L2;paneth cell-enhanced expression protein APPROVED protein-coding ENSG00000221978 20570 10815 613482 REVIEWED 733406 CCNL1 cyclin L1 3 3 q25.31 158348279 158361176 - 156865585 156878482 - 1580863;6480464 18216018;17494991;16598186;15700036;15489334;15302935;14702039;12975309;12477932;12414649;11980906;11683997;11042152;14623875;16009940;20372150;20721974;21441570;21307140;21586274;21832049;21712988;22073261;22911880;22685556;23202124 57018 C9JPL0;H7C4G1;Q9UK58 ABBA01058836;AC104411;AF180920;AF208843;AF367476;AF367477;AK022974;AK098021;AK122738;AMYH01013601;AY034790;AY358663;BC007081;BC038394;BC067812;BX641146;BX647554;CH471052;HI179062;NM_020307 AAD53184;AAF64257;AAH07081;AAH38394;AAH67812;AAK61551;AAM21204;AAM21205;AAQ89026;ADZ16098;BAG51145;CBX53839;EAW78712;EAW78713;EAW78714;NP_064703;Q9UK58 Hs.4859 1664327;1735114;1788632;1795490;2187353 CCNL1_509;D3S2788E;RH18144;STS-N34441;T03514 ANIA6A;BM-001;PRO1073;ania-6a OTTHUMP00000213318;OTTHUMP00000213319;cyclin L ania-6a;cyclin L gamma;cyclin-L;cyclin-L1 protein-coding 20569 10814 613384 VALIDATED 1346304 CCO central core disease of muscle 7240710 1601 117000;145600;255320 1606616 CCNYL3 cyclin Y-like 3 16 16 16 p11.2 66650397 66703677 + 34115360 34176185 + 34257859 34292628 + 15616553 642326 P0C7X3 AC135776;CH471189;DW009600;XM_003846340 EAW54759;P0C7X3;XP_003846388 Hs.692710 Putative cyclin-Y-like protein 3;cyclin Y-like 3 protein-coding 33206 1317544 CCNK cyclin K The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008] 14 14 14 q32 80002624 80032734 + 99017492 99047605 + 99947739 99977852 + 1580863;6480464 16713569;9632813;17169370;17081983;15489334;15302935;12477932;11988847;11884399;10574912;16189514;20459741;16055720;20930849;22939629;22990118;21555514;22623531;19850743;22988298;21890473;21906983;19322201;21963094;22547058 8812 G3V235;G3V2Q3;G3V5E1;O75909 AB209373;ABBA01048558;ABBA01048559;AF542236;AK311075;AL110504;AMYH01005992;AMYH01005993;BC015935;BG503760;BM505592;BQ432222;BT006950;BX247958;CH471061;NM_001099402 AAH15935;AAN06829;AAP35596;ABM84464;ABW03286;BAD92610;CAD62298;EAW81668;EAW81669;EAW81670;EAW81671;EAW81672;NP_001092872;O75909 Hs.510409 1660974;1661577;1797354;1849208;2141700;5093876 A009Y14;CCNK_1614.3;G32976;G35001;RH1621;RH69937 CPR4;MGC9113 OTTHUMP00000246203;OTTHUMP00000246205;cyclin-K APPROVED protein-coding 1596 603544 REVIEWED 1319417 CCNT2 cyclin T2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 q21.3 135392863 135431057 + 135676392 135716915 + 1580863;6480464 16109376;9499409;18029348;12676794;18391197;17452463;16841087;16331689;15815621;15563843;15302935;12832472;12477932;12037672;11747605;11713533;11282025;10465067;10364329;10329126;10049833;17643375;19883659;20379614;14702039;16344560;20811636;18566585;20854876;19322201 905 B4DH21;C9JUL2;F2Z2C9;F8WDY7;H7BZ27;H7C411;O60583 ABBA01028188;AC016725;AF048731;AF048732;AJ297062;AK023645;AK075041;AK292913;AK294889;AMYH01011117;AMYH01011118;AU157699;AY865621;BC114366;BX648174;CH471058;NG_029189;NM_001241;NM_058241;NR_037649 AAC39665;AAC39666;AAI14367;AAW56073;AAY14998;BAF85602;BAG57982;EAX11644;EAX11645;EAX11646;EAX11647;NP_001232;NP_490595;O60583 Hs.744115 1646842;1650396;1675658;1677428;1688959;1756775;1775430 RH48571;RH65103;RH93172;RH93392;RH99330;SHGC-143906;WI-19949 CYCT2;FLJ13583;FLJ90560;MGC134840 OTTHUMP00000162502;OTTHUMP00000162503;SDS-stable vimentin-bound DNA fragment HEF42VIM22;cycT2;cyclin T2a;cyclin T2b;cyclin-T2;subunit of positive elongation transcription factor b APPROVED protein-coding ENSG00000082258 1600 04839 603862 REVIEWED 1346524 CCNYL2 cyclin Y-like 2 10 10 10 q11.21 38907092 38971132 - 42224950 42290860 - 42905531 42949620 - 12477932 414194 Q5T2Q4;R4GNI7 ABBA01049988;ABBA01049989;AL391099;AMYH01002282;BC039000;NR_103829;XM_003959987;XM_003960469;XM_003960858 Q5T2Q4;XP_003960036;XP_003960518;XP_003960907 Hs.568048 1662472 G17488 C10orf21;bA178A10.2 OTTHUMP00000019474;chromosome 10 open reading frame 21;cyclin Y-like 2;cyclin-Y-like protein 2 pseudo 23495 VALIDATED 1606146 CCNYL1 cyclin Y-like 1 2 2 2 q33.3 202338006 202382779 + 208284509 208327434 + 208576264 208620898 + 6480464 16344560;16341674;15302935;14702039;12477932;16712791;21139048;21890473;21906983;22505724 151195 C9IYB8;H7BZD2;H7C0P7;Q8N7R7 AA731590;ABBA01062688;ABBA01062689;AC096772;AK026922;AK095479;AK097751;AMYH01011449;BC047293;BC067253;BM772734;CB158848;CH471063;CN482952;DA730784;NM_001142300;NM_152523 AAH67253;AAY24056;BAC05160;EAW70420;EAW70421;EAW70422;EAW70423;NP_001135772;NP_689736;Q8N7R7 Hs.471234;Hs.597952 1649470;1851486;2111404;2132864;2163063;2163065 A001T14;D2S1504E;G19622;RH18275;RH45631;RH66675 FLJ40432 OTTHUMP00000163873;OTTHUMP00000206655;OTTHUMP00000206656;cyclin-Y-like protein 1 protein-coding ENSG00000163249 26868 08809 VALIDATED 5130598 CCR12P chemokine (C-C motif) receptor 12, pseudogene 13 13 13 q32.3 80903628 80904892 - 98853731 98862896 - 100060180 100061222 - 100133168 ABBA01027121;AL136961;AMYH01005326;NG_030243 GPR183P1 APPROVED pseudo 39812 INFERRED 1347341 CCNY cyclin Y Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009] 10 10 p11.21 35575959 35899164 + 35535953 35860848 + 6480464 11256614;19422935;19204726;19174780;19068216;18984674;18438405;18060517;17081983;15489334;15324660;15302935;15164054;14702039;12477932;8889548;21102463;20886065;16385451;19524571;20176734;20441050;21273179;21297633;22895054;21139048;22184064;19322201 219771 B7Z8E4;Q8TEX3;R4GN48;R4GNF3 ABBA01033334;ABBA01033335;ABBA01033336;ABBA01033337;ABBA01033338;ABBA01033339;ABBA01033340;ABBA01033341;ABBA01033342;ABBA01033343;AF413522;AF429969;AF465728;AF465729;AK024813;AK057280;AK303283;AK314666;AL117336;AL121749;AL592445;AL603824;AL834355;AMYH01002236;AMYH01002237;AMYH01002238;AMYH01002239;AMYH01002240;AY504868;BC015778;BC050310;BC069224;BC094815;BC104773;BC104801;BC143450;BC143455;BQ014589;BU159499;BU675909;CH471072;NM_145012;NM_181698 AAH69224;AAH94815;AAI04774;AAI04802;AAI43451;AAI43456;AAL07802;AAL78998;AAL78999;AAP97301;AAS79427;BAB71409;BAG37223;BAH13930;CAD39020;EAW85912;EAW85913;EAW85914;NP_659449;NP_859049;Q8ND76 Hs.14745;Hs.651463;Hs.714184 1338838;1644562;1647056;1647276;1648836;1671504;1701344;1724549;1736150;1767449;1767451;1789192;1849418;2113936;2123145;2148450;2155854;2165263;2165265;2168289;2171169;2171171;2178448;5094030 A006D26;A006E35;A010B05;AB071127;D10S1163;D10S1247;D10S1402E;D10S1868;D10S2357;G20724;G20748;G33065;G65595;HSC1TD072;RH104302;RH122534;RH15706;RH47247;RH48798;RH70372;SGC30806;SHGC-32774;STS-H67136;STS-T95622 C10orf9;CBCP1;CCNX;CFP1;FLJ95513 OTTHUMP00000019452;OTTHUMP00000019453;chromosome 10 open reading frame 9;cyc-Y;cyclin box protein 1;cyclin fold protein 1;cyclin-X;cyclin-Y;cyclin-box carrying protein 1 APPROVED protein-coding ENSG00000108100 23354 10700 612786 VALIDATED 1349625 CCR1 chemokine (C-C motif) receptor 1 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008] 3 3 p21 46218204 46224836 - 46243200 46249832 - 1580863;2307162;5688144;5688145;5688141;5688158;5688138;5688146;5688161;5688140;5688143;5688142;5688163;5688164;1582346;5688165;5688166;5688170;5688173;5688152;5688150;5688157;5688167;5688177;5688168;5688154;5688155;5508477;5688178;5688159;5688172;5688151;5688176;5688175;6480464;7241817 16399111;18608173;18396336;20410256;15654816;21332278;18158733;15368307;20500551;19280268;20053385;15254170;15153561;14674010;14655765;14595653;12860725;11687534;17234893;18088392;15716328;14512166;17641205;12874303;16493073;15951834;12742282;17016504;15593301;11875005;17312463;18844696;20870892;22916017 15001559;15474493;7505609;10910894;10734056;7683036;19017998;18972130;18559339;18311140;18178867;17914560;17464174;17389578;17336272;17298994;17192849;17135764;16969502;16837468;16323127;16226254;16182378;15950672;15927850;15548526;15489334;15337751;15265234;15103513;15039444;14637022;14530297;12794150;12763925;12651617;12477932;12270118;12085329;12070001;11920567;11832479;11470772;11449371;11116158;11110672;11085751;10770925;10702689;10660125;10583963;10202040;10094132;9886417;9558365;9346309;9289016;9143512;9115216;8631787;8626727;8530354;8011297;7679328;7594543;7545673;15053339;11804551;20429924;19913121;20628086;20634891;17558413;18240029;19423540;19553544;19603542;19664396;19687291;19693089;20015385;20056178;20086017;20154287;20190752;20406964;20438785;18577758;2834384;20802378;21148810;16621978;23125416;8699119;18587271;10706735;15764707;21942940;22007486;22104149;22829007;23233369;22650026;22727097;20921899;22842622;23291587 1230 P32246;Q5U003 ABBA01024719;AC104439;AI089760;AMYH01013130;BC051306;BC064991;BT019908;BT019909;BX337412;CH471055;CK903574;D10925;L09230;L10918;NM_001295 AAA36543;AAA58408;AAH51306;AAH64991;AAV38711;AAV38712;ACE86468;ACE87149;BAA01723;EAW64756;EAW64757;NP_001286;P32246 Hs.301921 1717043;1791408;1792074;1795494;2113058;2147049;2153985;2176523;5022828;5122239 CCR1_513;CCR1_mf;D3S3069;D3S3937;D3S4499;G15924;PMC109444P1;PMC135988P5;RH124084;STS-D10925 CD191;CKR-1;CKR1;CMKBR1;HM145;MIP1aR;SCYAR1 C-C CKR-1;C-C chemokine receptor type 1;CC-CKR-1;CCR-1;LD78 receptor;MIP-1alpha-R;OTTHUMP00000164655;RANTES receptor;RANTES-R;macrophage inflammatory protein 1-alpha receptor APPROVED protein-coding ENSG00000163823 1602 03101 601159 REVIEWED 1322623 CCPG1 cell cycle progression 1 15 15 15 q21.1 32536010 32589146 - 53434730 53487866 - 55647421 55700708 - 6480464 17092945;14702039;12477932;10574462;9383053;21145461;16344560;21906983 9236 H3BN32;H3BNE2;H3BPP4;H3BQN1;H3BR24;H3BTZ1;H3BV63;Q9HA17 AA740595;AB033080;ABBA01039025;ABBA01039026;ABBA01039027;AC013355;AC018926;AF011794;AF212228;AK022459;AK292795;AL705964;AMYH01006666;BC015203;BC027621;BC029398;BC034914;BC039871;BC042826;CH471082;DA670725;DA720583;DB084778;NM_001204450;NM_001204451;NM_004748;NM_020739 AAB69314;AAH15203;AAH29398;AAH34914;AAH39871;AAK14914;ADZ15580;BAA86568;BAB14042;BAF85484;EAW77481;EAW77482;EAW77483;EAW77484;EAW77485;EAW77486;NP_001191379;NP_001191380;NP_004739;NP_065790;Q9ULG6 Hs.285051 1649118;1666777;1668480;1669913;1736492;1795616;2125874;2127347;2173010;2184087;5037552 CPR8_1467;D15S1310;D15S700E;D8S2279;RH65629;RH78638;SHGC-53386;STS-AA001419;WI-16128;WI-18393;WI-19318 CPR8;FLJ60574;KIAA1254 cell cycle progression 8 protein;cell cycle progression protein 1;cell cycle progression restoration protein 8 protein-coding ENSG00000260916 24227 09895 611326 VALIDATED 1605415 CCP110 centriolar coiled coil protein 110kDa 16 16 p12.3 19442709 19472231 + 19535179 19564730 + 6480464 21620453;21145461;22261722;17719545;16275750;18694559;17765674;16964243;16760425;16368877;16344560;15489334;15342556;14654843;12477932;12361598;10493829;9455477;11076968;12221128;12852856;16244668;16462731;17681131;19460342;19481458;7790358;20596027;21982113;19322201;22684256;21139048;22441691;23486064;22505724 9738 B4DTZ1;H3BMS1;H3BVH3;I3L262;O43303 AB007879;ABBA01028263;ABBA01028264;AC003108;AC012621;AK300426;AK309196;AMYH01007323;BC030223;BC034140;BC036654;BP360952;BY798911;CB066937;CH471186;CR749255;DA370828;DB504255;NM_001199022;NM_014711 AAC05804;AAH36654;ABM82192;ABM85380;BAA24849;BAG62153;CAH18111;EAW50287;EAW50288;NP_001185951;NP_055526;O43303 Hs.279912 2108739;2153224 CP110_8986;SHGC-60794 CP110;Cep110;DKFZp781G1416;KIAA0419 OTTHUMP00000162162;OTTHUMP00000162163;centriolar coiled-coil protein of 110 kDa;centrosomal protein CP110;centrosomal protein of 110 kDa APPROVED protein-coding ENSG00000103540 24342 10848 609544 VALIDATED 1606584 CCR10 chemokine (C-C motif) receptor 10 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008] 17 17 q21.1-q21.3 38084946 38087371 - 40831420 40833845 - 6480464 14667819;7851889;17071491;16785557;16675558;16460738;15700309;15489334;12477932;11821900;11298490;10975800;10781587;10725697;10725696;10706668;9364936;8889548;22526457;17474147;18240029;18782672;20237496;18577758;20947433;21075690;21937703;22350183;22944692 2826 K7EPC9;K7ER70;P46092 ABBA01006414;AC100793;AF208237;AF215981;AMYH01008398;AY429103;BC098132;BC098157;BC098304;BC099840;BM930170;CA423133;CH471152;NM_016602;U13667 AAA64593;AAF63709;AAF72871;AAH98132;AAH98157;AAH98304;AAH99840;AAR07898;ACE87769;ACT64432;EAW60866;NP_057686;P46092 Hs.744542 1792062 PMC135988P12 GPR2 C-C CKR-10;C-C chemokine receptor type 10;CC chemokine receptor 10;CC-CKR-10;CCR-10;G protein-coupled receptor 2;G-protein coupled receptor 2;OTTHUMP00000163143 APPROVED protein-coding 4474 02586 600240 VALIDATED 1603716 CCR2 chemokine (C-C motif) receptor 2 This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009] 3 3 p21.31 46370364 46377432 + 46395235 46402413 + 2313557;2313561;2313563;2313564;2313558;2307043;2313562;4891443;4145124;4145109;4144893;4144896;4144897;734715;4144894;4145065;4144888;4144903;4145002;4145106;4145110;4145126;4144898;4145111;4145068;632391;4144890;4145064;6480464 18096169;16631114;11756347;10400139;17631861;18419759;12770795;20042590;11518728;17982926;16320322;20152938;19733456;11438742;20543668;15743780;18338959;18187693;17222215;19159432;17298432;10438957;18513341;17135764;14615370;9655467;18095591;16095529 17465499;17464174;17428349;17426779;17417600;17413295;17395051;17364026;17361671;17355643;17295203;17240189;17216598;17094383;17091019;17060059;16950632;16908772;16903979;16865553;16858645;16781696;16733654;16641997;16598837;16529059;16524739;16485782;16480760;16478397;16461193;16426243;16415174;16356504;16344560;16323127;16320328;16314800;16305685;16286055;16286054;16261210;16207551;16206074;16196460;16140745;16123688;16055130;16033640;15980693;15976001;15929697;15863470;15793370;15769362;15754978;15750046;15721423;15639953;15611878;15602133;15585333;15995708;9670957;10201901;10623817;9548499;10751368;8995400;8146186;19559392;19535619;19520154;19506371;19479237;19465829;19433914;19420105;19263529;19258923;19225544;19196047;19131662;19124913;19098363;19082218;19064579;19055601;19037908;19032065;19028820;19017998;19002595;18996288;18977759;18974840;18936436;18928397;18855658;18846510;18845960;18829011;18763111;18676680;18633131;18615095;18391751;18332000;18306985;18197127;18186797;18172114;18164016;18093816;18060801;18055544;17989610;17934338;17917677;17845302;17786209;17715128;17704101;17703412;17703277;17688234;17672867;17664883;17653321;17615573;17604544;17596666;17560067;17504503;17499741;17482150;15579296;15575507;15489334;15488313;15472820;15466648;15465089;15458467;15362666;15319853;15257681;15236615;15230854;15192276;15140377;15135805;15086398;15086346;15076247;14981141;14742283;14647058;14644039;14624371;14533983;14533004;13678532;12913933;12889997;12884524;12882757;12853745;12853162;12837756;12719858;12680626;12654703;12651900;12584049;12571520;12557141;12556692;12477932;12469616;12447757;12445801;12436194;12426226;12403355;12399623;12374865;12239249;12215924;12201365;12192431;12149192;12082592;12079277;12078856;12070001;12032878;12010355;12001056;11988632;11964548;11958683;11898620;11873083;11860823;11860793;11856781;11782014;11779135;11752157;11729511;11709782;11696224;11694103;11596075;11590385;11500196;11485615;11477473;11470772;11468722;11385319;11377705;11350939;11264152;11181995;11175286;11120855;11046064;11023492;10985245;10888629;10741397;10529171;10479649;9886417;9789057;9710230;9662369;9501202;9287323;9252328;9225989;9195948;9143512;9115216;9058802;8884276;8530354;8048929;16831471;15992849;15053339;11804551;21396623;21429204;11115360;10877489;10486323;9736741;9653051;22615942;16621978;21148810;20485444;20536507;20603037;20628649;20637631;20673868;20726788;20740585;21097527;20681057;20808917;2834384;18577758;17558413;18240029;19170196;19527467;19578796;19625176;19643177;19669591;19692168;19693089;19720836;19841162;19904283;19942750;19950235;19958843;19965779;20017911;20038229;20066125;20153665;20181074;20182805;20190752;20220260;20231199;20339010;20364004;20411675;20442634;20449800;20452482;20483750;20503287;20531015;20537184;20947712;21054877;21146687;21220372;21264360;21091093;12271471;20605053;20842059;19411748;21097672;22815949;23041556;21348591;22752804;21440726;21322034;21461583;21570337;22197827;22927430;23374597;21602126;21450101;22218121;18587271;21883707;22159219;21527853;21868018;21890375;22183310;21667221;22041342;21682549;22081934;22276574;22479344;22285384;22612293;22026334;23057571;22607625;23325742;22226505;23090289;23185481;23185512;23298254;23408426;23251661;23612252;23007133;19526283;19917610;20380698;22086059;22685564;22842622;22554651 729230 E9PH76;P41597 ABBA01024718;AC098613;AC138069;AF545480;AK292685;AK292920;AMYH01013130;AV715904;AX705062;BC074751;BC095540;BC126452;BC136396;BQ027284;BX101672;CH471055;D29984;DA927445;DC401093;DC418358;NG_021428;NM_001123041;NM_001123396;U03882;U03905;U80924;U95626;X95583 AAA19119;AAA19120;AAB57791;AAB57792;AAC51636;AAC51637;AAH74751;AAH95540;AAI26453;AAI36397;AAN16400;ADR82956;BAA06253;BAF85374;BAF85609;CAA64835;CAD88094;EAW64760;EAW64761;EAW64762;NP_001116513;NP_001116868;P41597 Hs.511794;Hs.705362 1705790;1793518;2113060;2136631;2141859;2156502 D3S4500;PMC228408P2;SHGC-76910;SHGC-76923;SHGC-78976;WI-9314 CC-CKR-2;CCR-2;CCR2A;CCR2B;CD192;CKR2;CKR2A;CKR2B;CMKBR2;FLJ78302;MCP-1-R;MGC103828;MGC111760;MGC168006 C-C CKR-2;C-C chemokine receptor type 2;CCR-2;MCP-1 receptor;OTTHUMP00000209947;OTTHUMP00000209948;OTTHUMP00000209949;monocyte chemoattractant protein 1 receptor;monocyte chemotactic protein 1 receptor APPROVED protein-coding ENSG00000121807 1603 601267 REVIEWED 1345616 CCR3 chemokine (C-C motif) receptor 3 The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009] 3 3 p21.3 46258692 46283166 + 46283872 46308197 + 1580863;4145618;4145620;4145645;4145642;4145622;4145634;4145633;4145623;4145617;4145454;4145395;4145646;4145643;4145619;1601020;4145638;4145111;4145632;6480464;6892918;6892922;6893445;6893393;4890013;6893388;6893454;6892923;6893390;6893394;6893409;6893428;6893387;6893391;6892916;6483834;6892920;6892921;6893427;6893389;6893392;6892917;6892919;6893426 20134116;19842835;17156343;17983872;19762220;11529927;18699933;19657453;20732990;20696593;16314464;16978084;17158890;20022477;17145927;20220260;17135764;19017998;21844117;19922414;20103664;15379987;18954648;19185001;19525930;19887061;1316818;15034073;12716450;21180278;19787232;16449815;22075493;18492752;21077277;20610836;21621198;18658092;15721839;21945903;21427490;11683586 21660963;10201960;10713092;9302298;19258923;19247692;19218218;19131662;19028820;18974840;18805825;18676680;18636124;18379861;18311140;18244953;17845580;17703412;17672867;17146638;16920975;16174786;16081847;15807893;15607028;15580493;15507393;15489334;15476879;15219825;15086398;14733956;14702039;14647058;14581140;12902471;12884299;12794150;12654630;12477932;12397598;12393570;12218106;12149192;12079287;12023397;11994538;11991282;11920572;11832479;11449371;11396683;11307756;11196669;11149986;11120849;11110785;11085751;11001881;10975800;10900353;10666479;10642580;10527858;10514402;10488147;10415069;10094132;9789057;9765440;9712872;9573273;9419219;9346309;9289016;9252350;9182688;9143512;9024664;9005985;8884276;8676064;8674119;8642344;8631926;8631813;8609214;7622448;7594543;16631222;17041228;16904155;9736741;9636210;15053339;9653051;9359702;16712896;16470129;15992849;15194768;11115360;10877489;10590105;15857508;21406396;20505746;20603037;20647273;20726325;20659406;20734064;20923436;18240029;19170196;19414538;19423540;19542083;19553323;19559392;19625176;19692168;19693089;19714638;19731977;20056178;20144207;20190752;20237496;20306659;20364559;20406964;20438785;20503287;21041734;18577758;21280323;23183094;21917937;23636060;22217447;22702503;22829007;23017229;23251661;23291587;19526283;20380698;20921899;21143381;21735070;22086059;22842622;23566847 1232 P51677;Q8TDP4;Q8TDP5 AB023887;ABBA01024719;AC104439;AF026535;AF224495;AF237381;AF247359;AF247360;AF247361;AF262299;AF262300;AF262301;AF262302;AF262303;AF262304;AMYH01013130;AY221092;BC110297;BC130318;BC130320;CH471055;EF064760;FB584191;NM_001164680;NM_001837;NM_178328;NM_178329;U28694;U49727;U51241 AAB09726;AAB16831;AAB82589;AAC50469;AAI10298;AAI30319;AAI30321;AAK49027;AAL85154;AAL85628;AAL85629;AAL85630;AAL85631;AAL85632;AAO65970;ABK41943;ADR82939;BAA86964;CAR96700;EAW64758;EAW64759;NP_001158152;NP_001828;NP_847898;NP_847899;P51677 Hs.506190 1791404;1791410;1791434;1792076;1792610;1797358;2113062;2185906 CCR3_515;D3S4503;PMC109434P2;PMC109444P2;PMC110312P1;PMC135988P6;PMC155019P3;SHGC-76880 CC-CKR-3;CD193;CKR3;CMKBR3;MGC102841 C-C CKR-3;C-C chemokine receptor type 3;CC chemokine receptor 3;CCR-3;OTTHUMP00000164718;OTTHUMP00000209745;OTTHUMP00000209746;OTTHUMP00000209747;OTTHUMP00000209748;b-chemokine receptor;eosinophil CC chemokine receptor 3;eosinophil eotaxin receptor APPROVED protein-coding ENSG00000183625 1604 03167 601268 REVIEWED 1347259 CCR4 chemokine (C-C motif) receptor 4 The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008] 3 3 p24 32968070 32971407 + 32993066 32996403 + 1580863;2306304;2306306;2317610;6480464 15993846;12651599;12761880 7642634;19374191;19244125;19239991;19106589;18782672;18071306;17546636;17117949;17071491;15955100;15621800;15569983;15489334;9933589;9743322;9430724;9169480;8884276;8573157;12429730;15857508;15328188;15202833;15187160;14657875;12778466;12485447;12477932;12456591;12406880;12270118;12070001;11861261;11196669;10754297;10466728;10036181;19913121;20628086;18240029;19261691;19423540;19903885;19942450;20164417;20190752;20237293;20237496;20364559;20406964;20438785;20412707;20148806;20334681;18577758;20963786;21443538;21739422;21525208;22490506;23180648;22842622 1233 A0N0Q1;P51679 AB023888;AB023889;AB023890;AB023891;AB023892;ABBA01024915;AC137560;AK292674;AMYH01013066;AY322539;BC069139;BC071751;BC074935;CD639869;CD640816;CH471055;EF064759;NM_005508 AAH69139;AAH71751;AAH74935;AAP84352;ABK41942;BAA86965;BAA86966;BAA86967;BAA86968;BAA86969;BAF85363;EAW64440;EAW64441;NP_005499;P51679 Hs.184926 1657809;1660539;1682223;1792078;1795496;2113064;5020881;5021369;5037552;5492735 CCR4_517;D3S4501;D8S2279;G29868;L17709;L17796;PMC135988P7;RH91673;SHGC-76800;UniSTS:482160 CC-CKR-4;CD194;CKR4;CMKBR4;ChemR13;HGCN:14099;K5-5;MGC88293 C-C CKR-4;C-C chemokine receptor type 4;CCR-4;OTTHUMP00000161317;chemokine (C-C) receptor 4 APPROVED protein-coding 1605 05324 604836 REVIEWED 1343576 CCRL1P1 chemokine (C-C motif) receptor-like 1 pseudogene 6 6 6 q24.1 139883942 139885798 + 139185471 139187490 + 139143844 139145700 + 285737 ABBA01025805;AL121834;AMYH01016704;NG_005663 CCRL1P;dJ509I19.4 APPROVED pseudo 21142 INFERRED 1312592 CCR8 chemokine (C-C motif) receptor 8 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008] 3 3 p22 39346219 39351077 + 39371197 39375171 + 1580863;2306304;6480464 15993846 9417093;8816377;10910894;9670926;17693327;17641040;17082609;17023422;15814739;15489334;14576057;12967681;12832759;12645948;12551893;12547701;12525579;12477932;12163566;11007922;10888633;10540332;10469138;9521068;9480837;9469461;9211859;9207005;8977299;8886020;16631222;15992849;15053339;11804551;21976223;17558413;18240029;19074885;19423540;20237496;20406964;20438785;18577758;20455898;23043070;22842622;22479563 1237 C9JIP9;P51685;Q3KNR3 ABBA01024806;AC104850;AF005210;AK314957;AMYH01013099;AY016370;BC069067;BC074743;BC107152;BC107159;CH471055;D49919;NM_005201;U45983;U62556;Y08456;Z79782 AAB05542;AAB61962;AAB62547;AAH69067;AAH74743;AAI07153;AAI07160;AAK08628;BAA23387;BAG37461;CAA69712;CAB02142;EAW64577;NP_005192;P51685 Hs.113222 1791406;1792058;1792608;1795500;2113716 CCR8;CCR8_521;PMC109434P3;PMC135988P10;PMC155019P2 CC-CKR-8;CCR-8;CDw198;CKR-L1;CKRL1;CMKBR8;CMKBRL2;CY6;GPR-CY6;GPRCY6;MGC129966;MGC129973;TER1 C-C CKR-8;C-C chemokine receptor type 8;CC chemokine receptor 8;CC chemokine receptor CHEMR1;CC-CKR-8;CC-chemokine receptor chemr1;CCR-8;GPRCY6;OTTHUMP00000161964;chemokine (C-C) receptor 8;chemokine (C-C) receptor-like 2;chemokine receptor-like 1 APPROVED protein-coding ENSG00000179934 1609 03497 601834 REVIEWED 1347245 CCR7 chemokine (C-C motif) receptor 7 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. [provided by RefSeq, Jul 2008] 17 17 q12-q21.2 35963547 35975250 - 38710021 38721736 - 1580863;5130908;5130919;5130918;5130912;6480464 19783686;16394278;20176793;12626344 22334704;8383238;9153236;10741397;19287948;19196101;19136936;19074885;18802075;18696160;18664492;18623114;18544997;18497951;18437055;18319253;18235009;18166500;18065728;17890452;17687340;17587445;17440035;17178876;17032700;17006331;16887149;16857986;16802356;16786131;16690519;16500130;16278415;16278374;16272303;16225771;16223574;16115904;15950936;15867478;15778365;15753377;15743472;15674360;15569314;15489334;15304089;15284247;15265234;15247147;15122702;15073111;15059845;15040017;15034011;14990723;12851649;12799021;12673677;12642342;12486098;12477932;12149218;12070001;12023337;11970971;11929789;11861876;11830455;11507220;11359797;11145663;10861057;10706668;10607681;9743376;9725259;9585422;9507024;8889548;7851893;7488016;15972662;16278001;20439195;21464944;21739671;16344560;18240029;19068542;19423540;19513547;19536265;19536742;19540558;19585516;19731977;19749090;19862774;20029460;20056178;20150960;20237496;20406964;20438785;20651394;21048031;2834384;19615795;20036791;18577758;22821963;20811680;20889506;16494043;22718198;21071608;20889923;17192395;21081040;11242036;12729902;14592837;16249377;16621978;18379575;21165563;21165582;19087620;22251626;22659045;21092675;21624121;21698152;21261017;23449735;21347514;21548969;21731495;22043010;20855251;21735098;21680174;22797918;22990666;22158872;22221265;22619482;21739164;22020953;22634622;21953548;22163030;22350183;22438908;22498742;22533989;23519840;23028633;22923218;17431094;18310327;22842622 1236 A0N0Q0;J3KSS9;J3KTN5;P32248 ABBA01031824;AC004585;AK127810;AK310277;AK312732;AMYH01008384;AY587876;BC035343;BU740631;CH471152;DA814913;EF064758;GN344041;L08176;L31581;L31584;NM_001838;X84702 AAA58615;AAA74230;AAA74231;AAH35343;AAT52232;ABK41941;ABM83040;ABM86234;BAG35603;BAG54575;CAY55956;EAW60669;NP_001829;P32248 Hs.370036 1792082;1794580;2159198;2177619;5095173 CCR7_s4;D17S2011;PMC135988P9;PMC321570P11;RH69039 BLR2;CD197;CDw197;CMKBR7;EBI1 C-C CKR-7;C-C chemokine receptor type 7;CC chemokine receptor 7;CC-CKR-7;CCR-7;EBV-induced G protein-coupled receptor 1;EBV-induced G-protein coupled receptor 1;Epstein-Barr virus induced G-protein coupled receptor;Epstein-Barr virus induced gene 1;MIP-3 beta receptor;OTTHUMP00000164532;chemokine (C-C) receptor 7;epstein-Barr virus-induced G-protein coupled receptor 1;lymphocyte-specific G protein-coupled peptide receptor APPROVED protein-coding ENSG00000126353 1608 02588 600242 REVIEWED 1318406 CCR6 chemokine (C-C motif) receptor 6 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 6 6 q27 167445285 167472619 + 167525295 167552629 + 1580863;6480464 8125298;9186513;10521347;11001880;9223454;19492413;19324905;19305396;19249008;19233848;18703490;18587394;18465142;18218038;18097022;17615381;17562763;17171755;17133360;17075975;16641550;16622267;16344560;16215992;16095490;15701269;15591779;15489334;15483227;14574404;12642342;12514792;12477932;12193700;12149255;12081481;12070001;12067311;11994436;11751947;11714836;11164896;9294138;9294137;9169459;9070937;8886020;15972662;20570966;21300824;20439195;20634891;20511548;20459729;18240029;19423540;19539215;19811428;20022113;20023216;20056178;20068036;20194631;20220766;20379614;20406964;20438785;20453841;20453842;20483750;20526339;20526340;18577758;20872189;20720211;2834384;20334681;19760754;21072187;21228329;16621978;22859539;21398606;21624121;22796894;21984702;21261017;21873313;21912453;21937703;21092675;21763254;21949768;21935436;22490506;23599932;22079021;22269120;21724701;22092173;22732549;21102463;22926920;23128233;22842622 1235 P51684;Q53EZ5 ABBA01033434;AK223494;AK293015;AL121935;AMYH01016853;AY242126;BC037960;CD692892;CD707633;CH471051;DA645096;DN996219;NM_004367;NM_031409;U45984;U60000;U68030;U68031;U68032;Z79784 AAB06949;AAB62714;AAC51124;AAC51125;AAD14874;AAH37960;AAO92293;ABM83388;ABM86600;BAD97214;BAF85704;CAB02144;EAW47506;EAW47507;NP_004358;NP_113597;P51684 Hs.46468 1646712;1783888;1792080;1795498;2142027;2155042;5037552 CCR6_1762;D8S2279;PMC135988P8;RH46835;RH70644;SHGC-105352;STS-U68030 BN-1;C-C CKR-6;CC-CKR-6;CCR-6;CD196;CKR-L3;CKR6;CKRL3;CMKBR6;DCR2;DRY-6;DRY6;GPR-CY4;GPR29;GPRCY4;STRL22 C-C CKR-6;C-C chemokine receptor type 6;CC-CKR-6;CCR-6;DRY6;G protein-coupled receptor 29;G-protein coupled receptor 29;LARC receptor;OTTHUMP00000017618;OTTHUMP00000017619;chemokine (C-C) receptor 6;chemokine receptor-like 3;seven-transmembrane receptor, lymphocyte, 22 APPROVED protein-coding ENSG00000112486 1607 03498 601835 REVIEWED 1351344 CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.31 46386637 46392701 + 46411633 46417697 + 632396;1581175;1581176;1581181;1581182;1580863;1358460;1626290;1626283;1626284;2307064;2307192;2307107;2306302;2317570;2317571;2317567;4889880;4892104;1582346;4890426;4892017;4890425;4890431;4890436;4890446;4892114;4890442;4892066;4892067;4892106;4145106;4892122;4892129;4889986;4892077;4892091;4892099;2325935;4890445;4890447;4890034;1626279;4892065;4145109;4890438;4892108;4892119;4892063;4892070;4892086;4892087;4892088;4892090;4892098;4892103;4892127;4890459;4891446;4144893;4892093;4892101;4145638;4892079;4890448;4892094;4145622;4892085;4892113;4892092;4889989;4890416;6480464;6484113;6907045;7240710 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1234 O14708;Q38L21 AB182984;AB182988;AB182990;ABBA01024718;AC098613;AF009962;AF011500;AF011501;AF011502;AF011503;AF011504;AF011505;AF011506;AF011507;AF011508;AF011509;AF011510;AF011511;AF011512;AF011513;AF011514;AF011515;AF011516;AF011517;AF011518;AF011519;AF011520;AF011521;AF011522;AF011523;AF011524;AF011525;AF011526;AF011527;AF011528;AF011529;AF011530;AF011531;AF011532;AF011533;AF011534;AF011535;AF011536;AF011537;AF031237;AF052244;AF052539;AF056020;AF161909;AF161910;AF161911;AF161912;AF161913;AF161914;AF161915;AF161916;AF161917;AF161918;AF161919;AF161920;AF161921;AK292132;AMYH01013130;AX256200;AX705068;AY221093;AY463213;AY463214;AY463215;AY744141;AY874119;AY874120;AY874121;BC038398;CH471055;DA818906;DQ217934;EF408698;EF408699;EF408700;FB584189;GQ917109;HC295434;JQ291182;JQ291183;JQ291184;JQ291185;JQ291186;JQ291187;JQ291188;JQ291190;JQ291191;JQ291192;JQ291193;JQ291194;JQ291195;JQ291196;JQ291197;JQ291198;JQ291199;JQ291200;JQ291201;JQ291202;JQ291203;JQ291204;JQ291205;JQ291206;JQ291207;JQ291208;JQ291209;JQ291210;JQ291211;JQ291212;JQ291213;JQ291214;JQ291215;JQ291216;JQ291217;JQ291218;JQ291219;JQ291220;JQ291221;JQ291222;JQ291223;JQ291224;NG_012637;NM_000579;NM_001100168;U54994;U57840;U83326;U95626;X91492 AAB17071;AAB57793;AAB65700;AAB65701;AAB65702;AAB65703;AAB65704;AAB65705;AAB65706;AAB65707;AAB65708;AAB65709;AAB65710;AAB65711;AAB65712;AAB65713;AAB65714;AAB65715;AAB65716;AAB65717;AAB65718;AAB65719;AAB65720;AAB65721;AAB65722;AAB65723;AAB65724;AAB65725;AAB65726;AAB65727;AAB65728;AAB65729;AAB65730;AAB65731;AAB65732;AAB65733;AAB65734;AAB65735;AAB65736;AAB65737;AAB94735;AAC23944;AAC50598;AAC51797;AAD18131;AAD47666;AAD47667;AAD47668;AAD47669;AAD47670;AAD47671;AAD47672;AAD47673;AAD47674;AAD47675;AAD47676;AAD47677;AAD47678;AAF65577;AAF65579;AAH38398;AAO65971;AAS19312;AAS19313;AAS19314;AAW62445;AAW82037;AAW82038;AAW82039;ABB01004;ABQ95606;ABQ95607;ABQ95608;ACX50405;AEZ06624;AEZ06625;AEZ06626;AEZ06627;AEZ06628;AEZ06629;AEZ06630;AEZ06632;AEZ06633;AEZ06634;AEZ06635;AEZ06636;AEZ06637;AEZ06638;AEZ06639;AEZ06640;AEZ06641;AEZ06642;AEZ06643;AEZ06644;AEZ06645;AEZ06646;AEZ06647;AEZ06648;AEZ06649;AEZ06650;AEZ06651;AEZ06652;AEZ06653;AEZ06654;AEZ06655;AEZ06656;AEZ06657;AEZ06658;AEZ06659;AEZ06660;AEZ06661;AEZ06662;AEZ06663;AEZ06664;AEZ06665;AEZ06666;BAD83805;BAD83807;BAD83808;BAF84821;CAA62796;CAC94550;CAD88097;CAR96699;CBJ06541;EAW64763;EAW64764;NP_000570;NP_001093638;P51681 Hs.450802 1684280;1795234;2113066;2145264 CCR5_4;D3S4504;RH65248;STS-X91492 CC-CKR-5;CCCKR5;CCR-5;CD195;CKR-5;CKR5;CMKBR5;FLJ78003;IDDM22 C-C CKR-5;C-C chemokine receptor type 5;C-C motif chemokine receptor 5 A159A;CCR-5;HIV-1 fusion coreceptor;OTTHUMP00000209784;chemokine receptor CCR5;chemr13 APPROVED protein-coding ENSG00000160791 1606 03223 601373;609532;610379;612522 REVIEWED 1350851 CCT cataract, congenital, total 7240710 907 1614 225790;302200 1349348 CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae) The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 137269087 137299202 + 140156393 140186543 + 139936943 139967093 + 1580863;6480464 11394964;10521507;18587630;16821125;12477932;19913121;20628086;22547059 25819 Q8WTX0;Q9UK39 ABBA01069940;ABBA01069941;ABBA01069942;ABBA01069943;ABBA01069944;ABBA01069945;AC093602;AF183961;AF199492;AF199493;AF199494;AMYH01014567;AMYH01014568;BC021963;BC023512;BC077723;BC113494;BC113500;CH471056;HY067201;NM_012118 AAD56548;AAG01387;AAG01388;AAG01389;AAH21963;AAH23512;AAH77723;AAI13495;AAI13501;EAX05129;EAX05130;EAX05131;NP_036250;Q9UK39 Hs.639842;Hs.656047 2160497;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;SHGC-67987 CCR4L;MGC142054;MGC142060;MGC4120817;MGC78549;NOC CCR4 protein homolog;CCR4-like (carbon catabolite repression 4, S.cerevisiae);OTTHUMP00000164538;nocturnin APPROVED protein-coding ENSG00000151014 14254 16337 608468 REVIEWED 1352272 CCR9 chemokine (C-C motif) receptor 9 The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 3 3 p21.3 45903023 45919671 + 45927996 45944667 + 1580863;5130925;6480464 16210593 10544196;10640743;10229797;18245522;18245518;17570212;17205512;15717282;15623660;15489334;14559839;12816994;12477932;11046037;10974041;10702689;10602049;10498628;18240029;19423540;19525985;19756884;20036838;20056178;20081876;20190752;20406964;20438785;18577758;20738854;16344560;2834384;20947433;21075690;21511186;21344163;23326330;21637913;21984373 10803 B2R734;C9JWC0;P51686 ABBA01024720;AC099782;AF145207;AF145439;AF145440;AJ132337;AK312824;AK313366;AMYH01013130;AY242127;BC069678;BC095516;CH471055;DB103756;DB132476;NG_029472;NM_001256369;NM_006641;NM_031200;U45982 AAA93319;AAD38539;AAF66699;AAF66700;AAH69678;AAH95516;AAO92294;BAG35681;BAG36166;CAB43477;EAW64751;EAW64752;NP_001243298;NP_006632;NP_112477;P51686 Hs.225946 1778710;1792060;1795502;2152987;5095175 CCR9_300;CCR9_mf;PMC135988P11;RH70643;STS-U45982 CC-CKR-9;CDw199;GPR-9-6;GPR28 C-C CKR-9;C-C chemokine receptor type 9;CC-CKR-9;CCR-9;G protein-coupled receptor 28;G-protein coupled receptor 28;OTTHUMP00000164653;OTTHUMP00000164654 APPROVED protein-coding ENSG00000173585 1610 09200 604738 REVIEWED 1323460 CCRL2 chemokine (C-C motif) receptor-like 2 This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008] 3 3 3 p21 46386028 46388321 + 46423725 46426018 + 46448721 46451014 + 6480464 9473515;18794339;16641997;15489334;15188357;12477932;9143512;20677014;20002784;20056178;20190752;21502085;14530373;22046140;23142225 9034 B2R8C0;C9JP23;O00421 ABBA01024714;ABBA01024715;AC098613;AF015524;AF015525;AJ344142;AK296673;AK313312;AMYH01013130;BC071682;BC096075;BC096076;CH471055;CQ882060;CS115011;CS115013;DC387981;NM_001130910;NM_003965;U95626 AAB57794;AAC34601;AAC34602;AAH71682;AAH96075;AAH96076;ABM83028;ABM86222;BAG36117;BAG59270;CAC82985;CAH60289;CAJ15094;CAJ15095;EAW64765;EAW64766;NP_001124382;NP_003956;O00421 Hs.535713 1795504 CCRL2_302 ACKR5;CKRX;CRAM;CRAM-A;CRAM-B;FLJ55815;HCR;MGC116710;MGC34104 C-C chemokine receptor-like 2;OTTHUMP00000209758;OTTHUMP00000209759;OTTHUMP00000209785;OTTHUMP00000209787;atypical chemokine receptor 5;chemokine receptor CCR11;chemokine receptor X;putative MCP-1 chemokine receptor APPROVED protein-coding ENSG00000121797 1612 16327 608379 REVIEWED 1312172 CCSER2 coiled-coil serine-rich protein 2 10 10 10 q23.1 80084093 80273189 + 86078390 86268256 + 86088410 86278276 + 737633;6480464 12477932 14702039;10574461;8619474;16169070;16385451;20379614;21832049;17043677;20360068;21900206 54462 B4DFY4;Q9H7U1 AB032954;ABBA01003755;AC074321;AF241785;AK024324;AK098675;AK294321;AK298966;AL356115;AMYH01002890;AMYH01002891;AMYH01002892;AMYH01002893;BC020910;BC030528;BU599757;BX640691;CH471142;NM_018999;U90912 AAG44473;AAH30528;BAA86442;BAB14884;BAG57595;BAG61061;CAE45815;EAW80349;EAW80350;EAW80351;EAW80352;NP_061872;Q9H7U1 Hs.461988 1656890;1700270;1736112;1850995;1855584;2162607;5015861;5015961;5022578;5094973;7185938 D10S1384E;D10S16;D10S2175;D15S1477;D1S1423;RH103752;SGC34764;STS-AA010256;TNPO1;WI-20479 FAM190B;FLJ14262;FLJ25809;Gcap14;KIAA1128;bA486O22.1 OTTHUMP00000020001;family with sequence similarity 190, member B;granule cell antiserum positive 14;protein FAM190B;protein GCAP14 homolog;serine-rich coiled-coil domain-containing protein 2 APPROVED protein-coding ENSG00000107771 29197 13832 VALIDATED 3029011 CCT3P1 chaperonin containing TCP1, subunit 3 (gamma) pseudogene 1 8 8 8 p22 15097944 15098544 + 16177578 16178181 + 16133186 16133786 + 20193073 646440 ABBA01021595;AC087360;AMYH01018542;NG_022409 CCT3-1P pseudo 35129 INFERRED 2974874 CCT4P1 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 7 7 7 q34 135419761 135421615 - 140344209 140346063 - 140697740 140699594 - 12853948;20193073 650172 AACC02000020;ABBA01034091;AC006006;AMYH01017993;CH236950;NG_016595 CCT4-2P pseudo 35151 INFERRED 3539547 CCT4P2 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 X X X q11.2 64837617 64839726 + 64400286 64409629 + 64490792 64492901 + 20193073 100131638 ABBA01066996;ABBA01066997;AL445523;AMYH01022498;NG_022664 CCT4-1P pseudo 35141 INFERRED 733606 CCS copper chaperone for superoxide dismutase Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008] 11 11 q13 66117266 66130066 + 66360690 66373490 + 1580863;1300048;6480464;6907045 9726962;9295278;19227972;19007184;18977241;18552350;18393442;17683925;17601350;16531609;16132821;15736924;15489334;15324660;15265083;12832419;12477932;11991808;11115513;11018045;10790544;10773661;10677207;10221913;9886096;22869735;20154138;21354101;21722094;21139048;20693630;21926972;12968035;22508683 9973 E9PK03;E9PP76;J3KNF4;O14618 ABBA01024071;ABBA01024072;AF002210;AMYH01003735;AP001157;AY113179;BC105016;BC112055;CH471076;CR541928;NG_008733;NM_005125 AAC51764;AAI05017;AAI12056;AAM50090;CAG46726;EAW74549;EAW74550;EAW74551;NP_005116;O14618 Hs.502917 1649371;1769821;1791354;1791356;1791358;1791360;1791362;1791364;2109117 CCS_9025;PMC107843P1;PMC107843P2;PMC107843P3;PMC107843P4;PMC107843P5;PMC107843P6;RH41832;WI-19549 MGC138260 OTTHUMP00000235518;OTTHUMP00000235519;OTTHUMP00000235520;copper chaperone for superoxide dismutase;superoxide dismutase copper chaperone APPROVED protein-coding ENSG00000173992 1613 04841 603864 REVIEWED 1602440 CCSAP centriole, cilia and spindle-associated protein 1 1 1 q42.13 202725069 202747007 - 227523382 227545358 - 229456752 229478688 - 6480464 14702039;12477932;22493317 126731 Q6IQ19 ABBA01009820;AK094615;AK123465;AK291437;AL117350;AMYH01001808;BC015419;BC039241;BC060777;BC071609;CH471098;NM_145257 AAH15419;AAH39241;AAH60777;AAH71609;BAC85619;BAF84126;EAW69897;NP_660300;Q6IQ19 Hs.585011 1652625;1668812;1849922;2129866;2158069 A003A05;G31076;RH64648;SHGC-34833;WIAF-1548 C1orf96;CSAP;FLJ37296;FLJ41471;RP4-803J11.3 OTTHUMP00000035777;centriole and spindle-associated protein;centriole, cilia and spindle-associated protein;hypothetical protein LOC126731;uncharacterized protein C1orf96 APPROVED protein-coding ENSG00000154429 29578 14035 VALIDATED 3161437 CCT5P2 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 13 13 13 q31.1 60383402 60385019 + 78381141 78382490 + 79483065 79484682 + 20193073 390415 ABBA01021684;AL359647;AMYH01005226;NG_016574 CCT5-P1;KIAA0098 pseudo 35139 INFERRED 2837779 CCT5P1 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 5 5 5 q22.3 110797065 110798685 + 114833459 114877293 + 114847774 114849394 + 20193073 402226 ABBA01069032;AC008628;AMYH01015563;NG_016575 CCT5-3P pseudo 35135 INFERRED 1602258 CCSER1 coiled-coil serine-rich protein 1 4 4 4 q22.1 88345830 89813662 + 91375205 91922178 + 91048684 92523370 + 6480464 16344560;14702039;12477932;11214970;20379614;20607790;17043677;22952603;23319000 401145 D6RAM2;D6RAM6;D6RB70;E7EUW0;H0Y9F8;H0YA74;H0YAI2;Q9C0I3 AB051467;ABBA01063572;ABBA01063573;ABBA01063574;ABBA01063575;ABBA01063576;ABBA01063577;ABBA01063578;ABBA01063579;ABBA01063580;ABBA01063581;ABBA01063582;ABBA01063583;ABBA01063584;ABBA01063585;AC004054;AC019188;AC074124;AC079301;AC093729;AC093781;AC093793;AC096897;AC097524;AC098593;AC108038;AC110774;AC110796;AC114787;AK097436;AK310825;AMYH01014389;AMYH01014390;AMYH01014391;AMYH01014392;AMYH01014393;AMYH01014394;BC021681;BC051694;BC073917;CH471057;DB027029;NM_001145065;NM_207491 AAH51694;AAY41009;BAB21771;EAX06039;EAX06040;NP_001138537;NP_997374;Q9C0I3 Hs.654735 1335075;1339337;1339629;1341213;1342064;1644830;1645910;1650120;1659656;1662908;1668568;1677190;1678087;1693834;1705734;1716509;1720737;1723349;1727761;1748539;1750029;1750537;1753227;1763759;1764107;1767577;1769114;1775730;1776044;1791131;1847109;1898922;2121449;2129230;2132235;2133686;2134265;2136166;2137468;2140392;2140549;2141372;2141374;2142188;2153113;2153249;2162838;2164031;2166935;2170223;2174388;2178434;2182111;2220478;7185518;7186703;7187587 1150;AFM284yd1;D4S1089;D4S1107;D4S1209;D4S1323;D4S2661;D4S2671;D4S3006;D4S3245;D4S410;D4S414;D4S423;D4S606;D4S840;D4S989;G01804;G01929;G10351;G33499;G34396;G42602;G59342;G63146;REN20257;RH118491;RH121540;RH47751;RH91868;SHGC-110017;SHGC-111720;SHGC-111846;SHGC-14164;SHGC-147437;SHGC-147758;SHGC-24700;SHGC-24735;SHGC-24782;SHGC-25060;SHGC-30515;SHGC-33181;SHGC-36063;SHGC-50235;SHGC-50631;SHGC-51204;SHGC-51723;SHGC-51765;SHGC-59789;SHGC-67737;SHGC-67797;SHGC-83457;SHGC4-1700;UniSTS:483400;px-16e8 FAM190A;KIAA1680;MGC48628 KIAA1680 protein;OTTHUMP00000219397;OTTHUMP00000219519;OTTHUMP00000219520;family with sequence similarity 190, member A;protein FAM190A;serine-rich coiled-coil domain-containing protein 1 APPROVED protein-coding ENSG00000184305 29349 17561 VALIDATED 1601895 CCT6P1 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1 7 7 7 q11.21 58331511 58342159 + 64853527 64866097 + 65216092 65228662 + 6480464 14702039;12477932;9847074;20193073;19156129 643253 ABBA01008491;ABBA01049022;ABBA01049023;ABBA01049024;ABBA01049025;AC073107;AK092180;AMYH01017482;BC052238;BC073761;BC119782;BC122874;NR_003110 Hs.488399 1725771;2118594;2138914;5022651;5113086 D11S2921;G23512;G62070;GDB:1317576;RH11537 CCT6-5P;CCT6AP1;DKFZp779B0634 pseudo 33094 PROVISIONAL 1345648 CCT4 chaperonin containing TCP1, subunit 4 (delta) The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008] 2 2 p15 61948766 61969295 - 62095262 62115806 - 1580863;6480464 8626763;9819444;17081065;16344560;15815621;15489334;14532270;12665801;12477932;11689615;11580270;10604479;9153422;8661059;7953530;21145461;21319273;15967112;16085932;17643375;18715871;18775504;18782753;20193073;18029348;16497536;16055720;23077236;23184937;23383273;16335966;22863883;22939629;16196087;17314511;19135240;19156129;16009940;20473970;21628590;15852347;18781797;21081666;21726808;21900206;21942715;22079093;16341674;8889549;21139048;21890473;21906983;22318606;19380743;21853274;22053931;22505724 10575 B7Z2F4;B7Z9L0;P50991 AA136129;ABBA01075372;ABBA01075373;AC107081;AF026291;AI439570;AK129860;AK290538;AK294665;AK295330;AK303082;AK307856;AK308942;AK312586;AK315975;AL555753;AMYH01010388;AU128145;BC014676;BC106933;BC106934;BM765256;CD369623;CH471053;DB461009;NM_001256721;NM_006430;U38846 AAC50384;AAC96010;AAH14676;AAI06934;AAI06935;AAY24140;ABZ92292;BAF83227;BAG35480;BAH11840;BAH12034;BAH13897;BAH14346;EAW99984;EAW99985;EAW99986;EAW99987;NP_001243650;NP_006421;P50991 Hs.421509 1672703;1731873;1774170;2126213;2128997;2172542;5093932;5095825;7186785 A009Z10;D2S412E;G33008;RH11918;RH66235;RH68840;SHGC-195;WI-16954 CCT-DELTA;Cctd;MGC126164;MGC126165;SRB OTTHUMP00000201357;T-complex protein 1 subunit delta;TCP-1-delta;chaperonin containing t-complex polypeptide 1, delta subunit;stimulator of TAR RNA-binding APPROVED protein-coding ENSG00000115484 1617 05506 605142 VALIDATED 2837780 CCT6P2 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 5 5 5 p15.2 14663527 14665122 - 14692532 14694127 - 14639532 14641127 - 20193073 391739 ABBA01020638;AC010627;AMYH01014921;NG_016581 CCT6-1P pseudo 35150 INFERRED 1342982 CCT3 chaperonin containing TCP1, subunit 3 (gamma) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010] 1 1 q23 154545376 154574819 - 156278752 156308206 - 1580863;6480464 8573069;8001976;18029348;19165527;16710414;15489334;12586295;18654987;22399500;12477932;10635329;8110840;7953530;18782753;16085932;12620389;18715871;16169070;14499622;16189514;20634891;15383276;17643375;18775504;20193073;16497536;20562859;20936779;11865071;14532270;22939629;23383273;20516061;22863883;23022380;16196087;17314511;19135240;19156129;19167051;22586326;22589738;17623298;18781797;19596686;20639865;21081666;21139048;21572988;21890473;21906983;21942715;21987572;22079093;22145905;16009940;19193609;21628590;21145461;21319273;19380743;22268729;22505724 7203 B3KX11;B4DUR8;E9PM09;E9PQ35;E9PRC8;E9PRM9;E9PRN0;P49368;Q59H77;Q5SZW8;Q5SZX6;Q5SZX9 AB208882;ABBA01016662;ABBA01016663;ABBA01016664;AK126400;AK293477;AK300765;AK308023;AK315923;AK316387;AL518070;AL589685;AL833197;AMYH01001437;AY524046;BC006501;BC008019;BG476176;BG746513;CH471121;NM_001008800;NM_005998;NR_036564;NR_036565;U17104;X74801 AAC50068;AAH06501;AAH08019;AAS94255;ABM83940;ABM87258;BAD92119;BAG54323;BAG56968;BAG62430;BAH14294;BAH14758;CAA52808;CAI46192;EAW52967;NP_001008800;NP_005989;P49368 Hs.491494 1657614;1781476;2107917;2167144 CCT3_8687;D1S3443;RH70900;SHGC-132091 CCT-gamma;CCTG;PIG48;TCP-1-gamma;TRIC5 OTTHUMP00000025735;OTTHUMP00000025736;OTTHUMP00000231494;OTTHUMP00000231497;T-complex protein 1 subunit gamma;T-complex protein 1, gamma subunit;TCP1 (t-complex-1) ring complex, polypeptide 5;hTRiC5 APPROVED protein-coding ENSG00000163468 1616 08969 600114 REVIEWED 1352326 CCT2 chaperonin containing TCP1, subunit 2 (beta) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 12 12 q15 68265475 68281624 + 69979208 69995357 + 1580863;6480464 11532003;18029348;19332537;18391951;16236267;15635413;15489334;15324660;14532270;12665801;12477932;11580269;10748209;10404219;9819444;7953530;18782753;21145461;21319273;16085932;18715871;16712791;20573828;17643375;18775504;19851296;20198315;16497536;20562859;16055720;22939629;22863883;16335966;16196087;17314511;19135240;19156129;21110914;16009940;21628590;18781797;20639865;21081666;21572988;21726808;21942715;21987572;22079093;21139048;21890473;21906983;22145905;22354994;22586326;18654987;19738201;21382349;21525035;21963094;22304920;22623428;22810585;23000965;23077236;23184937;23190606;23349634;23383273;23438482;19380743;20697350;22053931;22505724 10576 F5GWF6;F8VQ14;P78371 AA401491;AB451223;AB451346;ABBA01026537;AC018921;AF026166;AF026293;AK290767;AK294307;AK297685;AK302157;AK316397;AK316408;AMYH01004567;BC113514;BC113516;BT019966;CB138063;CH471054;CR457071;NM_001198842;NM_006431;U91327 AAB67249;AAC96012;AAC98906;AAI13515;AAI13517;AAV38769;ADR83037;BAF83456;BAG70037;BAG70160;BAH11729;BAH12649;BAH13640;BAH14768;BAH14779;CAG33352;EAW97228;EAW97229;EAW97230;NP_001185771;NP_006422;P78371 Hs.189772 1674075;1674163;1731869;2122732;2157398;5013962;5127028 D12S384E;MARC_36444-36445:1067884409:1;RH44186;RH48183;RH69725;SHGC-60534;WI-19751 99D8.1;CCT-beta;CCTB;MGC142074;MGC142076;PRO1633;TCP-1-beta OTTHUMP00000240975;OTTHUMP00000240976;OTTHUMP00000240977;OTTHUMP00000240978;T-complex protein 1 subunit beta;T-complex protein 1, beta subunit;chaperonin containing t-complex polypeptide 1, beta subunit;chaperonin containing t-complex polypeptide 1, subunit 2 APPROVED protein-coding ENSG00000166226 1615 06895 605139 REVIEWED 4144711 CCT6P5 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 5 11 11 106662252 106663112 - 109507968 109508828 - 11237011;15496913;16554811;20193073 100463286 ABBA01039846;AMYH01004025;AP003102;NG_023057 CCT6-2P pseudo 38608 INFERRED 3028800 CCT6P4 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 3 3 3 q28 188862687 188865356 + 191915294 192010415 + 190432497 190435166 + 20193073 100130481 ABBA01058324;AC079863;AMYH01013758;CH471052;NG_016479 EAW78098 1784668 SHGC-144039 CCT6-4P pseudo 35148 INFERRED 3322380 CCT7P1 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 6 6 6 q25.1 150935693 150937521 + 150242791 150244401 + 150201030 150202858 + 20193073 442267 ABBA01025669;AL355312;AMYH01016739;NG_013108 5095177 CCT7 CCT7-2P;FLJ13465 pseudo 35149 INFERRED 1312394 CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010] 7 7 p11.2 56086872 56099176 + 56119378 56131682 + 1580863;6480464 8034610;16236267;16211299;15489334;14532270;12853948;12665801;12477932;11532003;10810232;7953530;1602151;1352881;18782753;18715871;16085932;21145461;21319273;16497536;17643375;18775504;20193073;22863883;23022380;17500595;22939629;16196087;17314511;19135240;19156129;17623298;21081666;21572988;21890473;21139048;21906983;21942715;21963094;21987572;22079093;20473970;21628590;17620599;18729074;19380743;21853274;22053931;22505724 908 B4DPJ8;P40227 AB063318;AB209728;ABBA01061849;AC092101;AC092579;AF385084;AK297751;AK298371;AK313819;AK316230;AM295155;AMYH01017277;AW411253;BC106941;BC106942;BI464886;BU540578;CH471140;L27706;M94083;NM_001009186;NM_001762 AAA58676;AAA61061;AAI06943;AAK61354;AAS07451;BAB61032;BAD92965;BAG36555;BAG60101;BAG60610;BAH14601;CAL26601;EAX07972;EAX07973;EAX07974;NP_001009186;NP_001753;P40227 Hs.82916 1725771;2147282;5106920;5113086 G62070;RH11537;SHGC-32082;WI-19011 CCT-zeta;CCT-zeta-1;CCT6;Cctz;HTR3;MGC126214;MGC126215;MoDP-2;TCP-1-zeta;TCP20;TCPZ;TTCP20 OTTHUMP00000159736;OTTHUMP00000209314;T-complex protein 1 subunit zeta;T-complex protein 1, zeta subunit;acute morphine dependence related protein 2;acute morphine dependence-related protein 2;amino acid transport defect-complementing;chaperonin containing T-complex subunit 6;histidine transport regulator 3 APPROVED protein-coding ENSG00000146731 1620 00089 104613 REVIEWED 2301496 CCT7P2 chaperonin containing TCP1, subunit 7 (eta) pseudogene 2 5 5 5 q14.3 88084667 88086213 - 92249157 92252303 - 92225080 92226626 - 11181995;20193073;21273288 100288772 ABBA01069288;AC008517;AMYH01015482;CH471084;NG_008698 EAW96001 CCT7-1P pseudo 35134 INFERRED 1605860 CCT8L1P chaperonin containing TCP1, subunit 8 (theta)-like 1, pseudogene 7 7 7 q36.1 146699468 146701520 + 151773257 151775287 + 152142302 152144354 + 12853948;20193073 155100 A6NM43 ABBA01035132;AC005631;AMYH01018150;CH471173;NG_012242 A6NM43;EAW53969 CCT8L1 APPROVED pseudo 32153 18738 INFERRED 3539802 CCT8P1 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 1 1 1 q21.1 122308284 122310144 + 145141322 145144085 - 146674705 146676565 - 11237011;15496913;16710414;20193073 644131 ABBA01004398;AC242426;AL356378;AMYH01001373;NG_016732 1692430;2124809;2169621 AL009757;AL033864;D5S2639 CCT8-1P pseudo 35144 INFERRED 1345429 CCV cataract, congenital, Volkmann type 7240710 7607651 7792 7183686 D1S243 1624 1345746 CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 17 17 17 q12 30165074 30198725 - 30279051 30312619 - 33254878 33288528 - 1580863;6480464 8812458;16415341;15489334;15342556;12477932;9013858;8125298;16344560;18782753;20193073;22990118;22939629;19156129;21572988;21906983;19380743;22505724 10693 J3KRI6;Q92526 ABBA01011220;ABBA01011221;AC022903;AK225728;AK225729;AK301773;AK302344;AMYH01008353;BC026125;BC027591;BI825786;BI826129;BP368876;CH471147;CR933688;D78333;DB024533;DB032371;NM_001193529;NM_001193530;NM_006584 AAH26125;AAH27591;ADZ15468;BAA11347;BAG63232;BAG63672;CAI45976;EAW80201;NP_001180458;NP_001180459;NP_006575;Q92526 Hs.73072 1734410;1797150;1857857;2124214;5107533 D17S1382E;D17S1561;MGC20398;RH71331;SHGC-56716 CCT-zeta-2;CCTZ-2;Cctz2;TCP-1-zeta-2;TSA303 CCT-zeta-like;T-complex protein 1 subunit zeta-2;T-complex protein 1, zeta-2 subunit;TCP-1-zeta-like;testis-specific Tcp20;testis-specific protein TSA303 APPROVED protein-coding ENSG00000132141 1621 09873 610730 REVIEWED 1354396 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. In addition, three pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2010] 5 5 p15.2 10303282 10319501 + 10250282 10266501 + 1580863;6480464;7240710 18029348;18421076;16821082;16399879;16236267;16189514;16169070;15889144;15489334;15231747;14702039;14532270;12530067;12502735;12477932;11580270;11580269;11532003;11358150;11162507;10747865;10393949;9250675;7953530;7788527;7615668;16085932;18782753;18715871;21145461;21319273;16548883;17643375;18775504;19651702;20193073;20468064;16497536;16159877;22939629;20516061;22863883;16196087;17314511;19135240;19156129;19167051;20000738;18781797;20639865;21081666;21726808;21942715;21987572;21139048;21693764;21890473;21906983;21963094;17339318;20473970;21628590;22232265;22586326;19738201;21525035;22304920;22623428;23000965;23349634;23383273;23438482;22956598;23398456;19376773;19380743;22053931;22505724 22948 B4DYD8;B7ZAR1;D6RIZ7;E7ENZ3;E9PCA1;H0Y914;H0Y958;P48643 ABBA01020593;AC012640;AF275798;AJ012489;AK124354;AK289353;AK290393;AK293341;AK293437;AK301760;AK301985;AK302368;AK302383;AK303086;AK303147;AK316376;AMYH01014902;BC002971;BC006543;BC009454;BC035499;BC040027;BU858349;CH471102;D43950;NG_012160;NM_012073 AAG23814;AAH02971;AAH06543;AAH09454;AAH35499;ABM83669;ABM86942;BAA07894;BAF82042;BAF83082;BAG56857;BAG56941;BAG63220;BAG63393;BAG63690;BAG63700;BAG64197;BAG64251;BAH14747;EAX08072;NP_036205;P48643 Hs.1600 1649742;1681448;2133822;2175641;2176903 A002D32;D5S2412;G19980;RH25325;RH48173 CCT-epsilon;CCTE;KIAA0098;TCP-1-epsilon OTTHUMP00000161671;OTTHUMP00000220727;OTTHUMP00000220728;OTTHUMP00000220953;OTTHUMP00000221653;T-complex protein 1 subunit epsilon;T-complex protein 1, epsilon subunit APPROVED protein-coding ENSG00000150753 1618 06468 256840;610150 REVIEWED 2974960 CCT6P3 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 7 7 7 q11.21 58217665 58250366 + 64162711 64172626 + 64498732 64535091 + 12477932;20193073;9847074 643180 ABBA01027992;ABBA01027993;AC073210;AMYH01017439;AMYH01017440;AMYH01017441;BC071617;BX649060;NR_033416 Hs.510847 1676704;1725771;2118594;2138914;5113086 G23512;G62070;GDB:1317576;RH11537;RH92824 CCT6-3P;DKFZp779B0634 pseudo ENSG00000234585 35137 VALIDATED 1605278 CCT8L2 chaperonin containing TCP1, subunit 8 (theta)-like 2 22 22 22 q11.1 693800 695852 - 15451648 15453700 - 17071648 17073700 - 6480464 15461802;12477932;10585773;20193073 150160 Q96SF2 ABBA01001468;AMYH01012420;AP000365;AP000547;AP003553;BC022006;BC033797;BC100811;BC100812;BC100813;BC139842;CH471193;CR456508;HC006880;NM_014406 AAH33797;AAI00812;AAI00813;AAI00814;AAI39843;AAI39927;ABM83008;ABM86201;ACT64544;ACT64545;BAA84680;BAB43952;CAG30394;CBH19245;EAW57714;NP_055221;Q96SF2 Hs.128342 CESK1;MGC118839;MGC118840 OTTHUMP00000180627;T-complex protein 1;putative T-complex protein 1 subunit theta-like 2 protein-coding ENSG00000198445 15553 16708 VALIDATED 1351383 CCZ1B CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 7 7 7 p22.1 5897907 5900900 + 6805097 6832386 - 6838566 6865926 - 737633;6480464 12477932 15489334;14702039;12853948;10810093;15342556;21832049;23022380;21987572;22505724 221960 F5H553;F8WD66;P86790;P86791 ABBA01016110;ABBA01056508;ABBA01056509;ABBA01056510;AC004983;AC079882;AK000993;AK292326;AK296026;AL050215;AMYH01017054;BC010130;BC108302;BP341272;CA413377;NM_198097 AAH10130;AAQ93370;AAQ96868;ADZ15393;BAF85015;BAG58794;CAB43318;NP_932765;P86790 Hs.567779 1684942;1712086;1712114;2147970;2147972 A005Y46;G20608;G54092;G54106;RH80485 C7orf28B;DKFZp586I1023;FLJ60592;H_NH0577018.2;MGC19819 H_DJ1163J12.2;OTTHUMP00000155187;hypothetical protein LOC221960;vacuolar fusion protein CCZ1 homolog B;vacuolar fusion protein CCZ1 homolog-like APPROVED protein-coding 21717 12916 VALIDATED 1322663 CD109 CD109 molecule This gene encodes a member of the alpha2-macroglobulin/complement superfamily. The encoded GPI-linked glycoprotein is found on the cell surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signaling of transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009] 6 6 q13 74462235 74594761 + 74405508 74538041 + 6480464 21295082;19016750;18519826;17922683;17611685;17493171;16959974;16754747;16344560;16335952;16263699;15826242;15569238;15342556;14980714;14702039;14574404;12799300;11861285;11861284;10972910;8889548;2346781;1984805;20946523;20667040;20035377;19570064;19898481;19948007;20101215;20379614;21539622;21898545;22694813;23251661 135228 Q5XUN1;Q6MZI7 ABBA01040340;AF410459;AF410460;AK095888;AK123960;AK130104;AK313636;AL110152;AL590428;AL591480;AL596449;AL834478;AMYH01016432;AMYH01016433;AY149920;AY374441;AY374442;AY736553;AY736554;AY736555;AY736556;AY736557;AY736558;AY788891;BM722643;BP279681;BP351448;BX107999;BX641095;BX646244;CB529476;CB853216;CH471051;DA720168;DB280225;EF553520;NM_001159587;NM_001159588;NM_133493 AAI48365;AAI52997;AAL84159;AAL84160;AAN78483;AAU94640;AAU94641;AAU94642;AAU94643;AAU94644;AAU94645;AAX14639;ABQ66266;BAC04642;BAG36395;BAG53987;CAD39137;CAE46045;EAW48752;EAW48753;EAW48754;EAW48755;NP_001153059;NP_001153060;NP_598000;Q6YHK3 Hs.399891 1338892;1656180;1687471;1726285;1751435;2109119;5022578;5037552 CD109_2883;D1S1423;D6S406;D8S2279;G62443;RH92600;SHGC-105259;SHGC-3527 CPAMD7;DKFZp762L1111;FLJ38569;FLJ41966;RP11-525G3.1 150 kDa TGF-beta-1-binding protein;C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7;CD109 antigen;Gov platelet alloantigens;OTTHUMP00000016748;activated T-cell marker CD109;p180;platelet-specific Gov antigen;r150 APPROVED protein-coding ENSG00000156535 21685 10590 608859 REVIEWED 1322923 CD101 CD101 molecule 1 1 p13 117345905 117380690 + 117544372 117579167 + 1580863;6480464 9647226;7722300;16344560;15737213;15342556;12477932;11504738;11093127;10692025;9389317;9233604;7722299;16169070;19898481;21159825;21467233 9398 Q93033 ABBA01068497;ABBA01068498;AI791963;AK298237;AK307542;AL445231;AMYH01000972;BC130327;BC136484;BC171768;BP300139;CH471122;DA582363;DA955029;NM_001256106;NM_001256109;NM_001256111;NM_004258;Z33642 AAI30328;AAI36485;AAI71768;BAG60504;CAA83923;EAW56664;EAW56665;NP_001243035;NP_001243038;NP_001243040;NP_004249;Q93033 Hs.654598 1336648;2167320 D1S252;SGC35472 EWI-101;IGSF2;V7 EWI-101;OTTHUMP00000013817;cell surface glycoprotein V7;glu-Trp-Ile EWI motif-containing protein 101;immunoglobulin superfamily member 2;immunoglobulin superfamily, member 2;leukocyte surface protein APPROVED protein-coding ENSG00000134256 5949 05154 604516 VALIDATED 1315027 CCT7 chaperonin containing TCP1, subunit 7 (eta) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009] 2 2 2 p13.2 73312190 73330978 + 73314913 73333655 + 73461364 73480150 + 1580863;6480464 9819444;16236267;16169070;15815621;15489334;15347653;14532270;12477932;11591653;11532003;9250675;8982604;8125298;21145461;21319273;16085932;18029348;18715871;18775504;18782753;19615732;20193073;16497536;20562859;20877624;16055720;21832049;22863883;22939629;16335966;20516061;23184937;23383273;16196087;19156129;18781797;21081666;21572988;21900206;21942715;21987572;17339318;19193609;20473970;21628590;21139048;21890473;21906983;22145905;19380743;21853274;22053931;22505724 10574 B7Z1C9;F5GZK5;F8WAM2;F8WBP8;Q99832 ABBA01075579;AC010913;AF026292;AI571508;AK098549;AK098825;AK222478;AK291961;AK293175;AK293597;AK297846;AK298153;AK302078;AMYH01010436;BC019296;BC088351;BM558355;BM918058;CH471053;CR456719;CR536511;CX781741;DC362157;DC395264;NM_001009570;NM_001166284;NM_001166285;NM_006429;NR_029402;NR_029403;U83843 AAB41437;AAC96011;AAH19296;AAH88351;AAX88902;ABM84390;ABM87333;BAD96198;BAF84650;BAH11465;BAH11543;BAH12675;BAH12733;BAH13620;CAG33000;CAG38749;EAW99738;EAW99739;EAW99740;NP_001009570;NP_001159756;NP_001159757;NP_006420;Q99832 Hs.368149 1682696;5095177 CCT7;RH41801 CCT-ETA;CCTETA;Ccth;MGC110985;Nip7-1;TCP-1-eta;TCP1ETA CCT-eta;HIV-1 Nef interacting protein;HIV-1 Nef-interacting protein;OTTHUMP00000202321;OTTHUMP00000202322;OTTHUMP00000213063;T-complex protein 1 subunit eta;TCP-1-eta;chaperonin containing t-complex polypeptide 1, eta subunit APPROVED protein-coding ENSG00000135624 1622 06896 605140 REVIEWED 1315007 CCZ1 CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) 7 7 7 p22.1 6829407 6835946 - 5904867 5932131 + 5938341 5965605 + 6480464 15146197;14702039;12477932;10810093;9847074;20562859;20305638;20709422;12853948;15489334;17897319;18220336;18669648;19413330;19608861;22505724 51622 F5H553;P86790;P86791 ABBA01011061;ABBA01039484;ABBA01039485;ABBA01039486;AC004983;AF151801;AK090536;AMYH01017010;AMYH01017011;AMYH01017012;AMYH01017013;AMYH01017014;AMYH01017015;BC067810;BC132749;BC132751;BI546694;CN310516;NM_015622 AAD34038;AAI32750;AAI32752;NP_056437;P86791 Hs.530000 1684942;1698298;1712086;1712114;2147970;2147972;5014029 A005Y46;D13S1639;G20608;G54092;G54106;RH102686;RH80485 C7orf28A;CCZ1A;CGI-43;H_DJ1163J12.2 CCZ1 vacuolar protein trafficking and biogenesis associated homolog;H_NH0577018.2;OTTHUMP00000208120;hypothetical protein LOC51622;vacuolar fusion protein CCZ1 homolog APPROVED protein-coding ENSG00000122674 21691 12915 VALIDATED 1313488 CCT8 chaperonin containing TCP1, subunit 8 (theta) 21 21 21 q22.11 15612113 15629468 - 29350518 29367881 - 30428647 30446010 - 1580863;6480464 7890169;16780588;16916647;16021519;15592455;15489334;14532270;12477932;11532003;10830953;10748209;10508479;8590283;8125298;7584028;7584026;18782753;16085932;20585571;21145461;21319273;17643375;18029348;18775504;20193073;16497536;17500595;21832049;22939629;16196087;17314511;19135240;19156129;20305087;21139048;21890473;21906983;21963094;22145905;17370265;20639865;21081666;21942715;22079093;20473970;21628590;22863883;23022380;19380743;22337587;22505724 10694 B4DEM7;B4DQH4;H7C2U0;H7C4C8;P50990 ABBA01057248;ABBA01057249;ABBA01057250;ABBA01057251;AF129075;AK222490;AK293705;AK298801;AK308063;AL163249;AMYH01012188;BC005220;BC012584;BC035472;BC072001;BC095470;BU932439;CH471079;D13627;D42052;NM_006585;Z37163 AAH12584;AAH72001;AAH95470;BAA02792;BAA07652;BAD96210;BAG57138;BAG60936;CAA85520;CAB90433;EAX09924;EAX09925;EAX09926;NP_006576;P50990 Hs.125113 1692430;1730851;2124809;5107853;5126525 AL033864;D21S388;D5S2639;RH25243;SHGC-51868 C21orf112;Cctq;D21S246;KIAA0002;PRED71 CCT-theta;OTTHUMP00000096462;OTTHUMP00000096463;OTTHUMP00000096464;T-complex protein 1 subunit theta;T-complex protein 1, theta subunit;TCP-1-theta;renal carcinoma antigen NY-REN-15 protein-coding ENSG00000156261 1623 10816 VALIDATED 1342532 CD160 CD160 molecule CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008] 1 1 q21.1 144407155 144426922 - 145695798 145715565 - 1580863;6480464 12477932;15494480;9973372;9743336;19109136;18193050;17237375;17218942;15489334;15073036;11978774;8090781;21482699;19626042;20164468;20237496;21191401;21715317;22916009;21982860;21276121;21959263;22172098 11126 O95971;Q5T2V6;Q6FH89 AA463248;ABBA01005738;AC242845;AF060981;AI241015;AK128370;AL390725;AMYH01001373;BC014465;CD638675;CH471244;CR541867;CR541888;EU016100;EU016101;NM_007053;NR_103845 AAC72302;AAH14465;ABM83981;ABM87303;ABV89736;ABV89737;CAG46665;CAG46686;CAI13713;CAI13714;EAW71440;NP_008984;O95971 Hs.488237;Hs.740780 1647513;1660680;1692970;1797362 AL034202;CD160_2137;RH47556;RH78835 BY55;FLJ46513;NK1;NK28 CD160 antigen;CD160 transmembrane isoform;CD160-delta Ig;OTTHUMP00000015585;natural killer cell receptor BY55;natural killer cell receptor, immunoglobulin superfamily member APPROVED protein-coding ENSG00000117281 17013 06833 604463 VALIDATED 1347263 CD14 CD14 molecule The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010] 5 5 q31.1 139991501 139993439 - 140011313 140013286 - 1580252;1580255;1580863;1580257;2314152;2314154;2314155;2314173;2314179;2314175;2314156;724637;4144796;4144197;4144208;4144143;4144784;4144205;4144789;4144210;4144780;4144788;4144795;4144798;4144228;4144810;4144156;4144782;4144813;4144814;4144815;4144794;4144809;6480464;7183752;7184431;6907045;7183676;2312712;4144091;7185660;7193054;7204129;7204499;7204130;7204444;7204443;1342461;7191232;7204441;7247704 10195920;14587643;15310678;18728522;18157711;17436151;14614560;16628253;10831941;16873708;12046090;19466271;16210672;18312481;19201771;17196641;18008256;15731076;17471431;20430603;17185649;20109306;19222419;19096003;16950285;18070011;18235097;16387800;15940135;15741437;20302606;17825924;22511970;21172039;22564590;19162137;19824106;19534684;15117676;22072187;12566518;20555320;10966493;11829837;15145554;17565820;15640605;22119168 2402637;8798531;9548256;9665271;19605672;19595045;19559392;19536153;19527514;19522765;19508433;19500269;19479237;19447482;19433913;19420105;19365146;19361972;19346955;19337058;19318422;19275920;19264973;19263529;19258923;19254290;19247692;16509825;16492974;16473828;16467036;16446545;16444757;16443672;16437636;16433727;16427140;16409569;16386288;16385250;16381901;16368002;16344560;16337421;16335952;16331574;16292464;16290232;16283111;16275943;16273622;16273620;16266379;16246938;16239565;16194368;16174099;16174094;16165702;16159630;16148556;16142747;16137548;16109674;16101942;16085746;16061600;16051275;16046876;16038043;15975149;15966209;15946916;15932345;15879416;15867866;15854776;15842262;15778383;15777548;15764151;15753758;15714129;15686783;15670766;15655821;15647432;15619435;15602630;15599151;15591473;15558232;15520404;19242719;19225544;19210273;19200604;19189651;19148143;19131662;19060757;19046305;19037967;19028820;19027777;19019335;19010986;19006850;18991094;18987746;18974842;18974840;18951711;18938271;18931892;18818748;18810425;18794053;18774388;18767926;18714537;18691306;18676680;18666712;18664531;18634146;18606699;18596635;18580477;18580445;18571004;18565258;18519568;18497880;18496988;18495781;18458151;18426570;18425216;18417506;18415752;18414664;18385826;18354240;18320914;18315435;18288274;18182917;18180796;18180316;18174680;18158110;18067042;18057002;18056918;18040078;17982638;17949800;17943182;17934216;17925604;17919709;17916440;17913858;17900622;17877801;17877764;17869646;17846597;17802898;17703412;17653770;17617027;17607003;17600225;17565650;17515856;17511783;17456337;17448042;17438094;17309585;17304102;17274987;17264400;17259806;17217435;17207357;17205552;17201240;17187267;17126402;17098305;17087609;17086894;17075287;17067484;17062130;17056323;17052752;17046070;17030237;17007028;17003960;16950521;16933467;16916546;16893989;16890863;16879054;16860318;16848791;16815140;16785528;16751411;16749413;16706818;16698680;16625214;16614348;16611358;16552356;16538169;16520888;15516360;15491315;15489336;15489334;15378299;15373760;15369724;15358661;15356557;15292769;15273551;15269840;15257175;15207785;15190267;15175649;15166925;15164100;15143473;15132789;15120158;15116260;15081257;15080833;15069085;15039096;15034063;14996480;14739370;14720421;14706103;14673018;14672339;14648231;14624155;14617510;14517520;14517492;14510720;14508193;14500479;12960274;12942028;12940436;12938192;12911501;12897754;12885845;12853157;12832426;12825176;12757265;12756848;12754215;12731067;12700637;12679473;12663765;12624278;12594207;12580907;12492251;12477932;12450609;12438323;12417309;12410798;12404174;12324469;12207338;12196527;12185442;12174084;12171914;12140663;12126249;12117913;12106839;12103253;12101079;12082592;12075251;12067299;12011764;12006789;11985523;11935032;11932927;11876746;11854210;11843056;11841490;11825494;11810121;11779220;11745332;11732288;11489942;11343243;11282774;11257272;11199329;11145656;11083760;11076863;11062291;10575214;10395652;9655682;9562334;9142045;7583357;3385210;2779588;2472171;2462937;2453848;2448876;12414752;22564189;22703766;21333644;19572148;20618347;21885391;21277522;20587312;20703737;21039068;21048031;21052690;21079949;20660791;21041645;21084593;20219985;20113368;20364047;20430725;20832340;15342556;16512634;16836908;19170196;19360901;19390489;19423540;19468702;19550115;19578796;19584052;19625176;19674346;19692168;19701968;19729601;19733948;19741468;19758335;19761511;19795323;19799036;19809507;19829130;19830784;19845895;19847953;19860589;19892918;19928913;19948975;19997857;20039305;20085599;20092898;20109750;20163933;20207250;20227257;20346360;20363151;20377740;20381257;20384875;20394509;20395963;20398919;20406964;20438785;20452482;20463618;20472613;20503287;20536280;20472010;20532808;19913121;20485444;20536507;20579716;20603037;20608916;20628086;20673868;20677014;20723409;20730440;20636398;20826579;21303362;21361908;21178007;21191073;21209279;20865702;21063024;21253969;21257965;21278688;23162014;22648004;23101184;23121673;21118416;20964518;21062235;21293259;21489615;22737215;21596674;22999728;23589304;21389010;21705839;21799175;21808991;21921097;22056216;22219617;22232682;22265692;21745379;21905503;21498585;21633598;21700881;22014346;21722015;21842127;20717070;21476947;21948372;21740312;22015088;22697010;20179016;22482418;22260507;22363790;22376040;22445606;22384567;23264655;23206327;23000519;23194293;22937756;23046822;23430250;22812245;21988832;22961048;23049772;23079836;22808111;23162132;23107636;23201091;23036097 929 D6RD81;D6RFL4;E7EVL5;P08571 AB446505;ABBA01026424;AC116353;AF097942;AK313277;AMYH01015661;AY044269;BC010507;BP300412;BT007331;CF593452;CH471062;DA269805;DA426297;DA681405;M86511;NG_023178;NM_000591;NM_001040021;NM_001174104;NM_001174105;W74441;X06882;X13334 AAA51930;AAC83816;AAH10507;AAL02401;AAP35995;BAG36085;BAG55282;CAA29999;CAA31711;CAL37570;CAL37702;CAL38264;CAL38573;EAW62037;NP_000582;NP_001035110;NP_001167575;NP_001167576;P08571 Hs.163867 1650171;1658953;1725717;1781086;1791370;1792094;1792342;1795134;1795236;2131419 CD14;CD14_82;G62118;PMC108311P1;PMC136845P1;PMC148872P1;PMC98826P1;RH11569;RH17946;RH67904 OTTHUMP00000159892;OTTHUMP00000223710;OTTHUMP00000223711;OTTHUMP00000224328;cd14 antigen;monocyte differentiation antigen CD14;myeloid cell-specific leucine-rich glycoprotein APPROVED protein-coding ENSG00000170458 1628 01151 158120 REVIEWED 733300 CD151 CD151 molecule (Raph blood group) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.5 822952 828835 + 832952 838835 + 1580863;6480464;7240710 21193415;14676841;9602068;8627808;19330835;19159612;19065669;18997004;18852263;18663148;18508921;18492066;18451146;18328426;18000614;17716972;17632541;17265493;17009258;16798740;16571677;16490193;16297202;16139245;15677332;15591117;15489334;15265795;15226180;12579280;12477932;12456024;11907260;11884516;11809818;11774285;11739647;11337467;11278880;11181065;10811835;10447000;10229664;10036233;9111230;9070943;8125298;7632941;1958484;12775420;18713730;12175627;10734060;10741407;15492270;20578262;22457534;12802069;16200075;16757171;19509057;19531562;19740096;20149781;20581856;20937830;21042756;21237282;21323946;20927591;20715158;20978946;22328509;21320503;21428938;21832275;21139048;21890473;21961047;21987572;22824799;22338088;22294188;23302890;22926763;23251661;21963094;22952421;22843693 977 E9PJC8;E9PJE8;E9PK37;E9PLZ6;E9PMR4;E9PP93;E9PRJ3;E9PSA1;K4DIB7;P48509;Q6ZNZ0 ABBA01015212;AF315942;AK130369;AK223186;AK293073;AL161965;AMYH01003295;AMYH01003296;AP006621;AP006623;AU099249;BC001374;BC013302;BQ957432;BT007397;BT020132;CH471158;CR456826;CR542098;D29963;DQ074789;NG_007478;NM_001039490;NM_004357;NM_139029;NM_139030;U14650 AAA87064;AAH01374;AAH13302;AAK14179;AAP36061;AAV38934;AAY68211;ABM84596;ABM86743;BAA06229;BAC85335;BAD96906;BAF85762;CAG33107;CAG46895;EAX02400;EAX02401;EAX02402;EAX02403;EAX02404;EAX02405;EAX02406;EAX02407;NP_001034579;NP_004348;NP_620598;NP_620599;P48509 Hs.654379 1778699 RH47994 GP27;MER2;PETA-3;RAPH;SFA1;TSPAN24 CD151 antigen (Raph blood group);OTTHUMP00000164434;OTTHUMP00000229166;OTTHUMP00000229168;OTTHUMP00000229169;OTTHUMP00000229170;OTTHUMP00000229174;hemidesmosomal tetraspanin CD151;membrane glycoprotein SFA-1;platelet surface glycoprotein gp27;platelet-endothelial cell tetraspan antigen 3;platelet-endothelial tetraspan antigen 3;tetraspanin-24;tspan-24 APPROVED protein-coding ENSG00000177697 1630 03763 179620;602243;609057 REVIEWED 2299188 CD177P1 CD177 molecule pseudogene 1 19 19 19 q13.31 40676720 40684110 - 48564296 48586093 - 43875887 43883277 - 11846455 653579 H7BYC5 ABBA01040856;AC005392;AMYH01009838;AMYH01009839;NG_005616 CD177P APPROVED pseudo 34508 INFERRED 1603478 CD164L2 CD164 sialomucin-like 2 1 1 1 p36.11 26102892 26107101 - 27578183 27582392 - 27705596 27709805 - 6480464 16710414;16344560;15340161;12975309;12477932;22471352 388611 Q5JXD4;Q6UWJ8 ABBA01034970;AL096774;AMYH01000422;AY358761;BC137466;BM145910;CH471059;DB231017;NM_207397 AAI37467;AAQ89121;CAI19568;CAI19569;CAI19570;EAX07755;NP_997280;Q6UWJ8 Hs.664836 2110021 UNQ6122__5015 UNQ6122 CD164 sialomucin-like 2 protein;EAPG6122;OTTHUMP00000003472;OTTHUMP00000003474 protein-coding ENSG00000174950 32043 15619 VALIDATED 1603525 CD163L1 CD163 molecule-like 1 This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 9082999 9171979 - 7398823 7488016 - 7507556 7596749 - 6480464 16344560;15340161;12975309;12477932;11124526;11086079;20032174;20237496;20379614 283316 F5H7R7;H0YFE6;H0YFR4;H0YGF0;Q9NR16 ABBA01012199;AC131205;AC131206;AC131207;AF264014;AK058038;AK303372;AMYH01004214;BC104962;BC104964;BQ024006;CH471116;DA851620;DB145231;GQ397482;NM_174941 AAF91396;AAI04963;AAI04965;ADB45259;BAG64429;EAW88667;EAW88668;NP_777601;Q9NR16 Hs.631727 CD163B;M160 CD163 antigen B;CD163 antigen-like 1;OTTHUMP00000238590;OTTHUMP00000238591;scavenger receptor cysteine-rich type 1 protein M160 APPROVED protein-coding ENSG00000177675 30375 07301 606079 REVIEWED 1321258 CD163 CD163 molecule The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 p13.3 7514676 7547681 - 7623412 7656414 - 6480464 15479433;8370408;19131549;18849484;18604302;18563533;18542032;18410276;18320015;18316565;18078989;17947394;17629586;17548657;17525367;17460152;17117055;17102136;17095719;16522161;16434690;16335952;16189277;15846794;15624762;15613100;15489334;15478309;15448162;15146432;15075364;14962251;14656926;12477932;12377940;12296867;12208511;12115225;11865982;11854028;11688984;11334962;11298324;11196644;11124526;10648003;10577520;10403791;10066432;8125298;22354894;21120485;20139978;16507898;16517975;18276779;19040468;19473660;19528371;19582880;19885719;19910578;19961729;20237496;20299688;20379614;20472850;20807704;21813065;22937125;22098563;22884782;22948049;22362417;16344560;22682876;22540373;23326413;23589619;21737148;21799753;21692033;21766094;21839737;21933102;22504842;22949100;21962403;22279103;22060747;22044760;22211334;22290142;22309204;22450890;22911680;23224400;22407921;22453843;22807450;22289504 9332 C9JHR8;F5GZZ9;H0YFM0;H0YGZ7;Q86VB7 AA962842;ABBA01012200;AC131206;AI128043;AI129762;AK226017;AMYH01004214;BC051281;CH471116;DA619387;DB291765;DQ058615;NG_029826;NM_004244;NM_203416;Y18388;Z22968;Z22969;Z22970;Z22971 AAH51281;AAY99762;CAA80541;CAA80542;CAA80543;CAA80544;CAB45233;EAW88662;EAW88663;EAW88664;EAW88665;EAW88666;NP_004235;NP_981961;Q86VB7 Hs.504641 2143590;2154438;5014422;5122856 D12S1890;G15942;STS-H93331;STS-T92350 M130;MM130 OTTHUMP00000238617;OTTHUMP00000238618;OTTHUMP00000238619;OTTHUMP00000238620;hemoglobin scavenger receptor;macrophage-associated antigen;scavenger receptor cysteine-rich type 1 protein M130 APPROVED protein-coding ENSG00000177575 1631 05708 605545 REVIEWED 736961 CD164 CD164 molecule, sialomucin Sialomucins are a heterogeneous group of secreted or membrane-associated mucins that appear to play 2 key but opposing roles in vivo: first as cytoprotective or antiadhesive agents, and second as adhesion receptors. CD164 is a type I integral transmembrane sialomucin that functions as an adhesion receptor (Watt et al., 1998 [PubMed 9680353]; Forde et al., 2007 [PubMed 17077324]).[supplied by OMIM, Aug 2008] 6 6 q21 109794414 109810340 - 109687717 109703762 - 1580863;6480464 10491205;9763543;9680353;18391951;18029348;17077324;16924678;16859559;16341674;15916720;14574404;12477932;11862985;11027692;10878358;8889548;1478919;19862010;20872290;23446634;22409183;18624398;21999799;19322201 8763 D6R9B4;Q5JSU3;Q9NR26 ABBA01026127;AF106518;AF263279;AF299340;AF299341;AF299342;AF299343;AK298684;AK301692;AK303525;AK308664;AK310854;AK312357;AK315908;AL359711;AMYH01016582;BC011522;BC037914;BC040317;BM668503;BM817924;BM830140;CH471051;D14043;DC403839;EB388947;NM_001142401;NM_001142402;NM_001142403;NM_001142404;NM_006016 AAC82473;AAF85965;AAG53903;AAG53904;AAG53905;AAG53906;AAG53907;AAG53908;AAH11522;ABM81960;ABM85139;BAA03130;BAG35275;BAG60847;BAG63164;BAG64553;BAH14279;EAW48348;EAW48349;EAW48350;EAW48351;EAW48352;EAW48353;EAW48354;EAW48355;NP_001135873;NP_001135874;NP_001135875;NP_001135876;NP_006007;Q04900 Hs.520313 1657382;1795506;1855000;2125351;2130398;2140633;2146924;2162916;5015881 CD164_1595;GDB:335751;RH17374;RH37462;RH46836;SHGC-12821;STS-N27287;WI-18149;WI-18736 MGC-24;MUC-24;endolyn CD164 antigen, sialomucin;MGC-24v;OTTHUMP00000016954;OTTHUMP00000016955;OTTHUMP00000016956;OTTHUMP00000016957;OTTHUMP00000220522;OTTHUMP00000220523;cd164 antigen;multi-glycosylated core protein 24;sialomucin core protein 24 APPROVED protein-coding ENSG00000135535 1632 04523 603356 VALIDATED 1351549 CD1A CD1a molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156490551 156494683 + 158223927 158228059 + 1580863;6480464 2478463;18287231;18251780;18184269;18178838;17652534;17428545;17197902;17082618;16820217;16670277;16598657;16344560;16272286;16208376;15864273;15756258;15749918;15723809;15556687;15099564;15032598;14991068;14739458;12925210;12833155;12477932;12415264;11580851;10963609;10626896;10488738;8729450;7517559;3097645;3093894;3053166;2784820;2701945;2583117;2447586;19321495;18838176;18624350;18337829;18337560;1301170;17077296;16454711;15262497;19317050;20954848;20592474;19257981;19426597;19605355;19952356;20026739;20237496;20890667;21496400;21696499;21194729;22939629;22318606;22331868;22003931;22007938;22670773;21900947;21988832;23468110;18555888;19234184;20139419;22103833 909 P06126;Q8N5T0 ABBA01016629;AF142665;AK312945;AL121986;AMYH01001443;BC031645;CA432941;CH471121;DB108750;M14663;M22080;M22163;M22164;M22165;M22166;M22167;M27735;M28825;NM_001763;X04450 AAA51931;AAA51932;AAA51933;AAA51934;AAD37578;AAH31645;ABM82272;ABM85452;BAG35786;CAA28049;EAW52843;EAW52844;NP_001754;P06126 Hs.1309 1715371;2142459;2153150 D1S3258;RH11438;RH120517 CD1;FCB6;HTA1;R4;T6 CD1A antigen, a polypeptide;OTTHUMP00000018907;T-cell surface antigen T6/Leu-6;T-cell surface glycoprotein CD1a;cluster of differentiation 1 A;cortical thymocyte antigen CD1A;differentiation antigen CD1-alpha-3;epidermal dendritic cell marker CD1a;hTa1 thymocyte antigen APPROVED protein-coding ENSG00000158477 1634 01776 188370 REVIEWED 1603627 CD177 CD177 molecule NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et al., 1971 [PubMed 5552408]).[supplied by OMIM, Mar 2008] 19 19 q13.2 48549665 48559320 + 43857825 43867480 + 6480464 15985544;12010833;19185066;18854317;18156711;17980909;17976520;17580308;17244676;16682284;16502591;15951300;15572213;15489334;15340161;15043575;14701686;14692971;12975309;12901344;12756017;12623849;12617169;12591276;12477932;12377969;12239154;11846455;11465086;10753836;8301201;8125298;5552408;1382544;16189514;21193407;15862967;19695014;19999391;20194726;22300941;20491791;22266279;22690867 57126 F8W8N6;Q8N6Q3 AB237911;ABBA01040855;AC005392;AF146747;AJ290452;AJ305326;AJ310433;AK225226;AK290965;AM884905;AMYH01009835;AMYH01009836;AMYH01009837;AMYH01009838;AY358932;BC029167;BT020111;NM_020406 AAG00895;AAH29167;AAQ89291;AAV38914;ABM82971;ABM86165;BAE93254;BAF83654;CAC44459;CAC83724;CAC83758;CAP05216;NP_065139;Q8N6Q3 Hs.232165 HNA-2a;HNA2A;NB1;NB1 GP;PRV-1;PRV1 CD177 antigen;HNA-2a;NB1 GP;NB1 glycoprotein;PRV-1;cell surface receptor;human neutrophil alloantigen 2a;polycythemia rubra vera 1;polycythemia rubra vera protein 1 APPROVED protein-coding 30072 01222 162860 VALIDATED 1319228 CD19 CD19 molecule Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008] 16 16 p11.2 28850761 28858164 + 28943260 28950668 + 1580863;6480464;6907045;7240710 7636191;21330302;15187135;15144712;14607925;12477932;12387743;12215898;12002767;11120811;11080163;10933394;10706702;10201980;9804823;9694255;9648915;9178909;9120258;7589101;7568175;7528218;7513297;2459292;1702139;1383329;1375324;1370948;8647200;1373518;1714482;2472450;19421221;19001137;18671252;18495958;18333845;18174230;18051214;17882224;17493148;17327405;16672701;16430962;16430470;16352804;16344560;15593213;15549146;15489334;16289966;21081841;21786452;19454653;19561539;19574428;19828092;19882758;20022378;20164433;20208555;20237408;20237496;22826319;20377416;20726320;21102463;21339041;20445561;22990118;20359104;21693761;21348573;21599592;21961844;17213291;21635204;20301476;20402410;22563781 930 P15391 AA760729;AB052799;ABBA01045683;AC109460;AF045018;AK130657;AK301167;AK301363;AK304456;AK307295;AK313577;AMYH01007479;BC006338;BC052294;CH471267;DA959905;M21097;M62550;M84371;NG_007275;NM_001178098;NM_001770;X13312 AAA35533;AAA69966;AAB60697;AAD02340;AAH06338;ABM83942;ABM87260;BAB60954;BAC85403;BAG62756;BAG62907;BAG65273;EAW52008;EAW52009;EAW52010;EAW52011;EAW52012;EAW52013;NP_001171569;NP_001761;P15391 Hs.652262 1681716;1742097;1792096;1858489 G10610;GDB:191081;PMC136845P2;RH65240 B4;CVID3;MGC12802 B-lymphocyte antigen CD19;B-lymphocyte surface antigen B4;OTTHUMP00000122551;T-cell surface antigen Leu-12;cd19 antigen;differentiation antigen CD19 APPROVED protein-coding ENSG00000177455 1633 00113 107265;613493 REVIEWED 1344711 CD1C CD1c molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156526187 156531188 + 158259563 158264564 + 1580863;6480464 1702817;2447586;2701945;19468063;18624350;18337560;18287231;16710414;16272286;15749918;15611286;15556687;15489334;15032598;14551186;12486100;12477932;12454749;12415264;11580851;11145857;10899914;10890914;10786796;10626896;10488738;8729450;8125298;7517559;3097645;2583117;21436634;19828201;20237496;20888334;21451111;22678905;21900247;23530121;22888216;23347583;23468110 911 H0Y6Y6;P29017 AA824381;ABBA01016629;AF142667;AK226024;AK298234;AK310710;AL121986;AMYH01001443;BC126465;BC126467;CH471121;CR457080;M14667;M18232;M22174;M22175;M22176;M22177;M22178;M28827;NM_001765;X79311 AAA51938;AAA51941;AAA51942;AAD37580;AAI26466;AAI26468;ADR82954;ADR83360;BAG60503;CAG33361;EAW52842;NP_001756;P29017 Hs.132448 2135937 D1S3359 BDCA1;CD1;CD1A;R7 CD1C antigen, c polypeptide;OTTHUMP00000018909;OTTHUMP00000035066;T-cell surface glycoprotein CD1c;cortical thymocyte antigen CD1C;differentiation antigen CD1-alpha-3 APPROVED protein-coding 1636 01772 188340 REVIEWED 1317791 CD180 CD180 molecule CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008] 5 5 q12 66513872 66528368 - 66478103 66492617 - 1580863;6480464 17448566;8975706;15852007;15489334;15342556;15340161;12539042;12477932;9763566;9686597;19423540;20133206;20237496;20331378;20379614;20406964;20438785;20430725;20233331;21048031;21890473;21959264;22219177;22484241;23103284;10880523 4064 Q99467 ABBA01048308;AC026445;AK313177;AL544501;AL570708;AMYH01015139;AW512119;BC109069;BC109070;BP344300;CH471137;D83597;NM_005582 AAI09070;AAI09071;BAA12019;BAG35994;EAW51318;NP_005573;Q99467 Hs.87205 1680142;1688598;2145623;2149436 RH80777;RH93570;SHGC-59933;SHGC-60152 LY64;Ly78;MGC126233;MGC126234;RP105 CD180 antigen;OTTHUMP00000161890;lymphocyte antigen 64;lymphocyte antigen 64 homolog, radioprotective 105kda (mouse);lymphocyte antigen-64, radioprotective, 105kDa;radioprotective 105 kDa protein APPROVED protein-coding ENSG00000134061 6726 03749 602226 VALIDATED 1348815 CD1B CD1b molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156564364 156567945 - 158297740 158301321 - 1580863;6480464 12118248;2447586;2701945;19004781;18624350;18538591;18337560;18287231;16874306;16794581;16710414;16272286;15880118;15864273;15556687;15489334;15032598;14764708;14716313;14551186;12477932;12415264;12049721;11938350;11847129;11580851;11160317;11035089;10899914;10626896;10488738;8729450;7542404;7527500;3097645;2583117;20212510;22087000;19454700;19808251;19948070;20237496;17207965;21807869;22505724;23468110;22782895 910 H7C0I2;P29016 ABBA01016629;AF142666;AI336342;AK303329;AK303330;AK310617;AL121986;AMYH01001443;BC069481;BC074747;BC104216;BC104217;CD687240;CH471121;M14665;M22168;M22169;M22170;M22171;M22172;M22173;M28826;NM_001764 AAA51936;AAA51939;AAA51940;AAD37579;AAH69481;AAH74747;AAI04217;AAI04218;ADQ32930;BAG64394;BAG64395;EAW52841;NP_001755;P29016 Hs.1310 1791348;2125536 PMC105497P1;SHGC-12745 CD1;CD1A;MGC125990;MGC125991;R1 CD1B antigen, b polypeptide;OTTHUMP00000018908;OTTHUMP00000035065;T-cell surface glycoprotein CD1b;cortical thymocyte antigen CD1B;differentiation antigen CD1-alpha-3 APPROVED protein-coding ENSG00000158485 1635 01775 188360 REVIEWED 1353762 CD1D CD1d molecule This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. [provided by RefSeq, Jul 2008] 1 1 q22-q23 156416361 156422841 + 158149737 158156217 + 1580863;6480464;6907045 11315191;19446558;19415116;19124746;19056691;18713998;18684921;18535199;18458073;18433720;18385757;18378792;18337560;18253929;18068183;17726154;17581592;17476670;17475845;17372201;17363727;17071611;17071498;17015708;16820217;16818729;16710414;16675349;16517731;16456021;16178273;16148122;16091469;16007090;15916790;15665086;15654963;15489334;15345586;15265953;15243159;15187105;15128771;15100293;15032598;14500461;10523605;14716312;14551186;14530337;12952923;12730881;12618910;12477932;12454749;12415264;12368486;12239218;12133957;11968185;11927549;11777966;11754812;11580851;11257307;11006091;10488738;10473580;10221650;9601940;9374463;8729450;8125298;7517575;3097645;2583117;2467814;2463622;1717564;15790518;16454711;16385629;21454514;21185200;20530791;19454494;19592659;19637196;19724888;19734232;19757161;19830742;20080535;20237496;19651460;20368272;20520738;20810727;21198755;20861015;22829134;21451111;21632718;21695190;21846915;21095162;21557213;21646050;21653669;22995911;21258883;21853044;21900247;21925141;21980475;22395072;22407918;21987790;21956730;22406267;22419072;23372165;22888216;23171451;23280365;23049754;23109910;21922073;22103833;23265858;23347583;23468111 912 P15813 ABBA01016630;AF142668;AK225996;AK310749;AL138899;AMYH01001443;BC027926;BX106524;CH471121;J04142;L38816;L38817;L38818;L38819;L38820;M14664;NM_001766;X14974 AAA51935;AAA59672;AAA59673;AAD37581;AAH27926;CAA33099;EAW52847;EAW52848;EAW52849;NP_001757;P15813 Hs.1799 1655590;1703550;1792414;1792416;1792418;1792420;1792422;1792424;2115175;2186424 A004X45;D1S3312;PMC150819P1;PMC150819P2;PMC150819P3;PMC150819P4;PMC150819P5;PMC150819P6;RH66323;SHGC-82759 CD1A;MGC34622;R3 CD1D antigen, d polypeptide;HMC class I antigen-like glycoprotein CD1D;OTTHUMP00000024053;R3G1;T-cell surface glycoprotein CD1d;antigen-presenting glycoprotein CD1d;differentiation antigen CD1-alpha-3;thymocyte antigen CD1D APPROVED protein-coding 1637 01780 188410 REVIEWED 1352820 CD1E CD1e molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010] 1 1 q22-q23 156590164 156593967 + 158323486 158327343 + 1580863 2467814;19196239;18838176;18325888;18208508;17428545;16820217;16344560;16311334;15752135;15032598;12671734;12144626;11580851;11019917;10948205;10488738;7566098;3097645;3053166;2583117;20954848;12477932;21496400;22880058;21844346;21696499;21788486;22003931;21481186;22505724;22782895 913 A2RRL5;E7ET31;H0Y345;Q9UMM1 AA283335;AA354546;ABBA01016628;AF142669;AJ251334;AJ251335;AJ289111;AJ289112;AJ289113;AJ289114;AJ289115;AJ289116;AJ289117;AJ289118;AJ289119;AJ289120;AJ289121;AJ289122;AK303088;AK303108;AK303217;AK303542;AK310567;AK311643;AL121986;AMYH01001443;BC131693;CH471121;DA827206;DC406237;M14666;NM_001042583;NM_001042584;NM_001042585;NM_001042586;NM_001042587;NM_001185107;NM_001185108;NM_001185110;NM_001185112;NM_001185113;NM_001185114;NM_001185115;NM_030893;X14975;X79517;X79518;X79519 AAA51937;AAD37582;AAI31694;BAG64199;BAG64215;BAG64304;BAG64568;CAA33100;CAA56053;CAA56054;CAA56055;CAB82829;CAB93150;CAB93151;CAB93152;CAB93153;CAB93154;CAB93155;CAB93156;CAB93157;CAB93158;CAB93159;CAB93160;CAB93161;CAC07175;EAW52828;EAW52829;EAW52830;EAW52831;EAW52832;EAW52833;EAW52834;EAW52835;EAW52836;EAW52837;EAW52838;EAW52839;EAW52840;NP_001036048;NP_001036049;NP_001036050;NP_001036051;NP_001036052;NP_001172036;NP_001172037;NP_001172039;NP_001172041;NP_001172042;NP_001172043;NP_001172044;NP_112155;P15812 Hs.249217 1645043;1662504;2155049 AL009528;RH46983;RH70821 CD1A;FLJ17609;R2 OTTHUMP00000018910;OTTHUMP00000018911;OTTHUMP00000018912;OTTHUMP00000018913;OTTHUMP00000018914;OTTHUMP00000018915;OTTHUMP00000018916;OTTHUMP00000018917;OTTHUMP00000018918;OTTHUMP00000018919;OTTHUMP00000018920;OTTHUMP00000018921;R2G1;T-cell surface glycoprotein CD1e, membrane-associated;differentiation antigen CD1-alpha-3;hCD1e;leukocyte differentiation antigen;thymocyte antigen CD1E APPROVED protein-coding ENSG00000158488 1638 01781 188411 REVIEWED 10305 CD2 CD2 molecule CD2 is a surface antigen of the human T-lymphocyte lineage that is expressed on all peripheral blood T cells (summarized by Sewell et al., 1986 [PubMed 3490670]). It is one of the earliest T-cell markers, being present on more than 95% of thymocytes; it is also found on some natural killer cells but not on B lymphocytes. Monoclonal antibodies directed against CD2 inhibit the formation of rosettes with sheep erythrocytes, indicating that CD2 is the erythrocyte receptor or is closely associated with it.[supplied by OMIM, Jul 2010] 1 1 p13.1 117098609 117113374 + 117297086 117311851 + 1580863;6480464 1970422;7544493;12356317;2471997;10575274;9270771;11376005;11591762;12714509;11544295;19494291;19237575;19109405;18431797;18318997;17168569;17085486;16803907;16710414;15528362;15489334;12731040;12690097;12530983;12477932;12426371;12369898;12032326;11932928;11602341;11575926;11090067;10722370;10642604;10510361;10404223;10380930;9857189;9843987;9743208;9741631;9677430;8977276;8809126;8551220;8125298;7994575;7933095;7915183;7686927;7539755;7517794;3490670;2901953;2894031;2883656;2444890;2437578;2111780;1976695;1385321;1377404;1351089;1346273;1832084;9475352;7589092;11152963;12618476;16000308;16049493;19502238;19586919;19898481;21048031;20813844;21300823;23314748;21982860;22634534;22013130;17020880;22222639;22084431;21987572;21988832;23112830;18051367 914 P06729;Q53F96;Q5JVN7 ABBA01068494;AK127925;AK223393;AK301154;AK303367;AK310676;AK313614;AL135798;AMYH01000972;BC033583;CH471122;CS278858;HH979251;M14362;M16336;M16445;M19806;NM_001767;X07871 AAA35571;AAA51738;AAA51946;AAA53095;AAH33583;ABM81879;ABM85041;BAD97113;BAG36377;BAG62744;BAG64425;CAA30721;CAJ86523;CBX51829;EAW56661;NP_001758;P06729 Hs.523500 1740785;1795512;2134357;2151114;5022200 CD2_1700;D1S3452;D1S3476;L18426;RH69083 FLJ46032;LFA-2;SRBC;T11 CD2 antigen (p50), sheep red blood cell receptor;LFA-2;LFA-3 receptor;OTTHUMP00000024366;T-cell surface antigen CD2;T-cell surface antigen T11/Leu-5;cd2 antigen;erythrocyte receptor;lymphocyte-function antigen-2;rosette receptor APPROVED protein-coding ENSG00000116824 1639 01750 186990 VALIDATED 1602956 CD200R1L CD200 receptor 1-like 3 3 3 q13.2 110942831 110973134 - 114017246 114047487 - 112534556 112564797 - 6480464 16928187;15471863;12960329;12477932;22219177 344807 F8WDF0;Q6Q8B3 ABBA01061658;ABBA01061659;AC074044;AC092892;AMYH01013392;AY284976;AY552790;BC144504;BC144507;NM_001008784;NM_001199215 AAI72292;AAQ19773;AAT00538;NP_001008784;NP_001186144;Q6Q8B3 Hs.531814 1727819 G63175 CD200R2;CD200RLa CD200 cell surface glycoprotein receptor 2;CD200 cell surface glycoprotein receptor-like 2;CD200 cell surface glycoprotein receptor-like a;CD200 receptor 2;CD200 receptor-like 2;OTTHUMP00000214680;OTTHUMP00000214681;cell surface glycoprotein CD200 receptor 1-like;cell surface glycoprotein CD200 receptor 2;cell surface glycoprotein OX2 receptor 2;huCD200R2 protein-coding ENSG00000206531 24665 16691 VALIDATED 1606724 CD200R1 CD200 receptor 1 This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 3 3 q13.2 114124222 114176627 - 112641532 112693937 - 6480464 22491458;19151626;18164423;18040859;17714785;16354172;16177086;15661892;15340161;15220441;15070969;12975309;12960329;12853143;12477932;11133863;10981966;17207965;19786546;19924532;21078907;22575528;22621248;22363701;22566634;22496920;23560298 131450 H9KV32;Q8TD45 ABBA01061657;AC074044;AF283760;AF495380;AF497548;AF497549;AF497550;AK126349;AK293071;AK304426;AMYH01013392;AY284975;AY358910;BC069661;BC069721;BC069743;BC093890;BC143393;CH471052;JA738727;JA738729;JA738731;JA738733;NM_138806;NM_138939;NM_138940;NM_170780 AAH69661;AAH69721;AAH69743;AAH93890;AAI43394;AAM14622;AAM16157;AAM16158;AAM16159;AAN61171;AAQ19772;AAQ89269;ADQ31913;BAF85760;BAG54311;BAG65254;CCF77016;CCF77017;CCF77018;CCF77019;EAW79657;EAW79658;EAW79659;EAW79660;EAW79661;NP_620161;NP_620385;NP_620386;NP_740750;Q8TD46 Hs.309158 CD200R;HCRTR2;MOX2R;OX2R CD200 cell surface glycoprotein receptor;MOX2 receptor;OTTHUMP00000214750;OTTHUMP00000214751;OTTHUMP00000214752;OTTHUMP00000214753;cell surface glycoprotein CD200 receptor 1;cell surface glycoprotein OX2 receptor 1;cell surface glycoprotein receptor CD200 APPROVED protein-coding ENSG00000163606 24235 09609 607546 REVIEWED 1347897 CD207 CD207 molecule, langerin The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010] 2 2 p13 70910855 70916461 - 71057343 71062953 - 1580863;6480464 10661407;18322168;18277880;18259063;18061677;17938236;17334373;16567809;15831940;15816828;15489334;15222130;14991068;14610287;12477932;12352970;9847074;17077296;16547227;19426597;19923446;20026605;20097424;20181944;20237496;20713888;21112338;21187444;21739428;21540232;21998450;23226363;23382691;18083206;22286874;22842622 50489 Q9UJ71 ABBA01075543;AC007395;AJ242859;AK314927;AMYH01010425;BC022278;CH471053;NM_015717 AAH22278;ABM82890;ABM86080;BAG37434;CAB62403;EAW99793;NP_056532;Q9UJ71 Hs.199731 CLEC4K C-type lectin domain family 4 member K;C-type lectin domain family 4, member K;Langerhans cell specific c-type lectin;OTTHUMP00000203299 APPROVED protein-coding ENSG00000116031 17935 07278 604862;613393 REVIEWED 1320216 CD209 CD209 molecule This gene encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] 19 19 p13 7710882 7718406 - 7804879 7812464 - 5131181;5131183;5131184;5131188;5131189;5131185;5131186;5131187;6480464;6907045;7240710 21454357;21381282;20864747;21471959;21191006;20050784;18167547;17107989 20940323;21245921;1518869;11337487;19567623;19386588;19282435;19273246;19264667;19258923;19249311;19237024;19126442;19054934;19046307;18848918;18796707;18775666;18772280;18697825;18510454;18458800;18453604;18424363;18405996;18375037;18354216;18353434;18337829;18337571;18318050;18310320;18292560;18285492;18270264;18255039;18171520;18155766;18082570;18080533;18078989;18076668;12515819;12515809;12502850;12496255;12477932;12433371;12352970;12239306;12223058;12176900;12122001;12083838;12050398;12050176;12021323;11884427;11859097;11825572;11799181;11799126;11739956;11384997;11257134;11017109;10975799;10721995;10721994;1602151;16547227;17010165;17151103;17077296;16817962;16672549;16611055;16365436;15752559;15709021;15572157;15545354;15518824;15215692;15208262;15043214;14603101;12941144;12797442;12438611;12097593;11745695;11711593;11588046;17182696;17083721;16454711;15638726;12836198;11825573;18073208;18070336;17962491;17940955;17913809;17876530;17715238;17703412;17659761;17611589;17530998;17530994;17509452;17496896;17462920;17202372;17145745;17056872;17055489;17055357;17041212;17005819;17001080;16940507;16883544;16865785;16839201;16807379;16797773;16698431;16641270;16501104;16469696;16424204;16420576;16386217;16379498;16274635;16252244;16246332;16177066;16155001;16099912;16092920;16061998;16051608;15880118;15855154;15845642;15838793;15838506;15728245;15564514;15509576;15494514;15452205;15385553;15371595;15319853;15210758;15184372;15111305;14970226;14963164;14709546;14707095;14576049;14519388;12960240;12960229;12949494;12783086;12692233;12645952;12626400;12598322;12594843;12574325;12571844;16439540;12634366;15254204;22653683;22629172;20212510;20713631;20588308;22163292;22396536;20364151;20406303;19785948;20484510;20359516;18827881;19423540;19426593;19502234;19682628;19692463;19718030;19773555;19803376;19818504;19828628;19833723;19851890;19879650;19892432;19942750;20034698;20080962;20170964;20331378;20406964;20438785;20470843;20503287;19958673;20217198;20630938;20362001;20829290;20924289;21067616;21081145;21078343;21239715;23019323;21179465;21596034;21386960;21515679;21540232;22553928;21562123;22911807;23424649;22086389;22013110;21860028;21704100;12456590;21792086;23124109;23388721;23416198;22061615;22090124;22205703;22156524;22338216;22027159;22292921;22384201;22169718;22808239;22902397;22700724;15222882;17151939;17263871;17296787;17312166;17452477;17522223;17632570;18040049;18083206;18371209;18473783;18524826;18597806;18641344;18802490;19020832;19193785;19230080;19406479;19681073;20304457;20404846;20594957;20854332;20932025;21142800;21277928;21562048;21743322;21785785;21922073;21957147;21994702;22045343;22091217;22102941;22103833;22175768;22257062;22433013;22470838;22645128;22664939;22675249;22687513;22842622;23294711;22934658 30835 B2R907;B4E2A8;M0QZG5;M0R0P0;Q96QQ8 ABBA01010887;AC008763;AC008812;AF209479;AF290886;AK293089;AK304190;AK308595;AK313585;AMYH01009412;AY042221;AY042222;AY042223;AY042224;AY042225;AY042226;AY042227;AY042228;AY042229;AY042230;AY042231;AY042232;AY042233;BC110615;CH471139;CQ796864;CS126908;M98457;NG_012167;NM_001144893;NM_001144894;NM_001144895;NM_001144896;NM_001144897;NM_001144899;NM_021155;NR_026692 AAF77072;AAG13814;AAI10616;AAK20997;AAK91846;AAK91847;AAK91848;AAK91849;AAK91850;AAK91851;AAK91852;AAK91853;AAK91854;AAK91855;AAK91856;AAK91857;AAK91858;BAF85778;BAG36354;BAG65070;CAG26528;CAJ18838;EAW68991;EAW68992;EAW68993;EAW68994;EAW68995;EAW68996;EAW68997;EAW68998;EAW68999;EAW69000;EAW69001;NP_001138365;NP_001138366;NP_001138367;NP_001138368;NP_001138369;NP_001138371;NP_066978;Q9NNX6 Hs.278694 1673496;1689933;1765851;1791536;1795508;5022578;5037552 CD209_523;D1S1423;D8S2279;PMC114396P1;RH98479;SHGC-149275;STS-AA028127 CDSIGN;CLEC4L;DC-SIGN;DC-SIGN1;MGC129965 C-type lectin domain family 4 member L;C-type lectin domain family 4, member L;CD209 antigen;HIV gpl20-binding protein;dendritic cell-specific ICAM-3-grabbing non-integrin 1;dendritic cell-specific intracellular adhesion molecules (ICAM)-3 grabbing non-integrin APPROVED protein-coding ENSG00000090659 1641 05241 604672;607948;609423;614371 REVIEWED 1606033 CD200 CD200 molecule The protein encoded by this gene is a type-1 membrane glycoprotein, which contains two immunoglobulin domains, and thus belongs to the immunoglobulin superfamily. Studies of the related genes in mouse and rat suggest that this gene may regulate myeloid cell activity and delivers an inhibitory signal for the macrophage lineage in diverse tissues. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q12-q13 113534606 113564349 + 112051916 112081659 + 6480464 19230971;19151626;19086995;18946351;18838168;18164423;18060862;18060403;18040859;18008004;17964286;16354172;16344560;16303743;16177086;15955564;15699757;15489334;12477932;11726033;11260322;11099416;2902568;12960329;10981966;3032785;19386363;20959655;20050020;20379614;20375636;20442224;21164290;21206086;22575528;23206327;22875025;22621248;23643150;22319630;22363701;22334534;22462561;22496920;21988832;23560298;21982860;22899296;23179394;22064604;22430636 4345 F8W7G1;F8WC99;F8WEX3;P41217 ABBA01061665;AC112487;AF063591;AK074972;AK129797;AK293399;AK297194;AK312563;AL832529;AMYH01013390;AW294653;AY603771;BC022522;BC031103;BI547787;CH471052;CQ783788;DA544134;NM_001004196;NM_005944;X05323;X05324;X05325;X05326 AAG43150;AAH22522;AAH31103;AAT37533;ABM83294;ABM86503;ACE87345;BAG52043;BAG56907;BAG59681;CAA28943;CAF86862;EAW79672;EAW79673;EAW79674;EAW79675;EAW79676;NP_001004196;NP_005935;P41217 Hs.79015 1675116;1679862;1735214;1735270;1741451;2145116;2165578;5106417 D3S2874E;D3S2924E;D3S3951;GDB:181218;RH25443;SHGC-36351;SHGC-77191;WI-20298 MOX1;MOX2;MRC;OX-2 CD200 antigen;MRC OX-2 antigen;OTTHUMP00000214500;OTTHUMP00000214501;OTTHUMP00000214502;OX-2 membrane glycoprotein;antigen identified by monoclonal antibody MRC OX-2 APPROVED protein-coding ENSG00000091972 7203 155970 REVIEWED 1345556 CD24P1 CD24 molecule pseudogene 1 1 1 p36 14419341 14424305 - 15936477 15941441 - 7959762 935 ABBA01004706;AL121992;AMYH01000274;NG_009856 CD24L1 APPROVED pseudo 1646 INFERRED 1347175 CD24P2 CD24 molecule pseudogene 2 15 15 q21.3 33252315 33255067 + 56363537 56366289 + 7959762 936 ABBA01039010;AC084783;AMYH01006674;AMYH01006675;NG_009857 1688196;1743973;1795060;1795510;2152614 CD24_1314;GDB:384235;PMC95860P1;RH66795;RH70313 CD24L2 APPROVED pseudo 1647 INFERRED 1351433 CD24P3 CD24 molecule pseudogene 3 20 q11.21 30098078 30099571 + 7959762;7959762 937 ABBA01019307;AL121751;AMYH01011829;NG_032176 CD24L3 APPROVED pseudo 1648 INFERRED 1323159 CD22 CD22 molecule 19 19 q13.1 40511919 40530104 + 35820072 35838264 + 1580863;6480464;6907045 17585360;9120258;8627166;8647200;7925291;19150402;18174230;17728258;17562860;17493148;17055225;16806233;16344560;15899772;15668918;15588985;15240561;15133509;15057824;12646615;12477932;11994426;11967116;11882357;11826756;11551923;11215824;10748054;10079291;9890995;9774390;9143697;8702538;8496602;8475064;8463235;8125298;7618087;7537381;1985119;1691828;1401903;12853962;10228003;11356834;20841423;19919568;20237496;20172905;19913121;20628086;20726320;8889548;21178016;23083346;21178327;21348573;21961844;22355053;22017452;22986740;21629223 933 E7ERG6;M0QY05;M0QY14;M0QYP4;M0QZ01;M0QZP5;M0QZR7;M0R0R6;M0R1M2;M0R2M0;M0R2R8;M0R3H1;Q0EAF5;Q32M46;Q92872 AB012995;AB012996;AB012997;AB012998;AB012999;AB013000;AB013002;AB013003;AB013004;AB013005;AB013006;AB013007;AB253793;AB253794;AB253795;ABBA01018740;AK026467;AK225625;AK225694;AK301177;AMYH01009727;BC109306;BC109307;BQ054599;CF138699;DA931592;DA989528;DB333800;EF064756;HC042771;NM_001185099;NM_001185100;NM_001185101;NM_001278417;NM_001771;S61375;U62631;X52785;X59350 AAB06448;AAB06449;AAC18956;AAI09307;ABK41939;BAA36564;BAA36565;BAA36566;BAA36567;BAA36568;BAA36569;BAA36571;BAA36572;BAA36573;BAA36574;BAA36575;BAA36576;BAB15489;BAF32756;BAF32757;BAF32758;BAH13422;CAA36988;CAA42006;CBH30554;NP_001172028;NP_001172029;NP_001172030;NP_001265346;NP_001762;P20273 Hs.579691 2106975;2130793;2131217;5024413 CD22_7234;G15883;L17877;RH18118 FLJ22814;MGC130020;SIGLEC-2;SIGLEC2 B-cell receptor CD22;B-lymphocyte cell adhesion molecule;BL-CAM;T-cell surface antigen Leu-14;sialic acid binding Ig-like lectin 2;sialic acid-binding Ig-like lectin 2 protein-coding ENSG00000012124 1643 00114 107266 VALIDATED 1352393 CD24P4 CD24 molecule pseudogene 4 Y Y Y q11.222 6620552 6622554 + 19611899 19614093 - 21152526 21154705 - 6480464 15489334;7959762;1831224;1327504 938 AC009235;AMYH01024913;NG_006012;S75311 Hs.644105 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;5116842;5116844 CD24_1314;DYS415;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3210;sY3211 CD24L4 APPROVED pseudo 1649 INFERRED 1323011 CD226 CD226 molecule This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. [provided by RefSeq, Jul 2008] 18 18 q22.3 65681172 65775139 - 67530192 67624232 - 1580863;6480464 12913096;16831868;8673704;16304049;18987646;18971939;18657862;17875681;17554260;16987076;16887814;16388732;16015041;15693793;15607800;15536144;15489334;15138281;15136589;15039383;14676297;12847109;12477932;10591186;20669283;21521299;21525383;19380793;19536154;19580844;19624611;19690890;19801517;19820697;19865102;19904767;19951419;20072139;20080650;20089178;20219786;20237496;20338887;20379614;20399620;20444755;20498205;20508602;20887380;20613786;21162102;21296979;21406724;22531499;23262348;21286723;21829393;22302395;22512842;22547693;21383766;22427644;23073294;22941566;22301152;22505724;23128233;22139419;23161903 10666 J3QKM7;J3QL19;J3QQW1;J3QR77;J3QRQ4;Q15762 ABBA01056288;ABBA01056289;AC011930;AC090231;AC091137;AJ537553;AK313199;AMYH01009075;AMYH01009076;BC074787;CH471117;GU935335;GU935336;NM_006566;U56102 AAC50560;AAH74787;BAG36015;CAD61184;EAW66515;NP_006557;Q15762 Hs.660130 1653397;1704354;1718021;1756809 AFMB022WE1;RH122627;SHGC-143948;SHGC-78167 DNAM-1;DNAM1;PTA1;TLiSA1 CD226 antigen;DNAX accessory molecule 1;DNAX accessory molecule-1;OTTHUMP00000163693;T lineage-specific activation antigen 1 antigen;adhesion glycoprotein;platelet and T cell activation antigen 1 APPROVED protein-coding ENSG00000150637 16961 09252 605397 REVIEWED 736340 CD24 CD24 molecule This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and in many B cells. The encoded protein is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. [provided by RefSeq, Jul 2008] 6 q21 21152527 21154705 - 1358462;1580863;6480464 14657362 8753773;9129046;15633604;11313396;8213086;11272271;16532032;8223854;16390867;2153173;16930538;12496407;10037815;15174142;15493995;19130400;19072375;19050962;19043399;18752058;18632604;18566397;18559090;18495204;18417991;18413748;18404683;18384848;18381780;17980703;17950993;17944116;17900673;17763438;17700640;17540049;17475624;17411341;16900767;16892043;16890615;16681720;16631259;16621031;16288985;16166435;16164042;16125303;15616015;15489334;14702039;12829373;12610508;12477932;12447971;12368195;12218294;10575223;8928617;7959762;7736776;7553654;1831224;1327504;22335271;21266361;21299347;20628624;19243896;19610054;19706825;19725119;19786366;19787233;19794958;19860845;19896210;19946098;20019840;20230526;20378664;20199686;19998456;20354454;20491779;20336055;20621328;20619441;19906290;21041728;21086907;20177845;20574427;21147107;21308865;21633165;21806966;20567952;22610780;22745528;22760497;22800863;23300877;23314606;23419168;23012401;21536545;21676268;21359202;22529013;22731636;22926560;20405247;21726833;21984372;21813394;21824412;21828044;21849440;21684315;21697762;21666711;21956537;21802218;21961844;21835433;21935375;22014860;22262195;22322379;23318912;21815873;22354323;22500096;21710320;21641619;22369943;22237177;22480875;16885410;19092120;22839505;23087328;23112116;22528516;22135002;23011824;22119938;23028444 100133941 B6EC88;P25063 ABBA01026189;AK026603;AK125531;AL535013;AMYH01024913;BC064619;BG260536;BT007404;D87667;FJ226006;L33930;M58664;NM_013230;X69397 AAA35665;AAB58807;AAH64619;AAP36068;ABM84738;ABM92253;ACI46150;CAA49195;NP_037362;P25063 Hs.644105 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;5116842;5116844 CD24_1314;DYS415;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3210;sY3211 CD24A;FLJ22950;FLJ43543;MGC75043 CD24 antigen (small cell lung carcinoma cluster 4 antigen);cd24 antigen;signal transducer CD24;small cell lung carcinoma cluster 4 antigen APPROVED protein-coding 1645 600074 REVIEWED 736436 CD244 CD244 molecule, natural killer cell receptor 2B4 This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 q23.3 159066574 159099269 - 160799950 160832692 - 1580863;6480464;7240710 9834056;22438812;10358138;19499526;18794858;18523281;18479751;17981603;17609265;17599905;17300754;17171759;17111350;16803907;16621032;16585556;16410313;16177062;16081768;16002700;15713798;15677558;15611233;15489334;15356108;15340161;15195244;15169881;12515815;12477932;12363025;12077228;11986947;11917118;11815622;11774610;11714782;11714776;11689425;11477068;11342640;11163399;11034353;11003394;10934222;10556801;10458320;10359122;9841922;3772297;16049493;16983070;19586919;19638467;19790054;19904767;20164429;20237496;20379614;20437071;20345977;17207965;18296487;21064032;20813844;21270395;21214542;21439641;21586211;21606496;17213291;21625589;22230401;21102463;23225218;23128233 51744 Q96RQ2;Q9BZW8 ABBA01016608;ABBA01016609;ABBA01016610;ABBA01016611;AF105261;AF107761;AF117711;AF145782;AF242540;AF297616;AF363452;AJ245375;AJ245376;AJ245377;AK295950;AK313201;AL354714;AMYH01001453;BC028073;BC041607;BC053985;CH471121;CS173034;NG_015991;NM_001166663;NM_001166664;NM_016382 AAD32538;AAD37838;AAD38951;AAF28833;AAH28073;AAH53985;AAK00233;AAK50015;AAK57926;ADQ32932;BAG36017;BAG58732;CAC00647;CAC00648;CAC00649;CAJ33698;EAW52691;EAW52692;EAW52693;EAW52694;NP_001160135;NP_001160136;NP_057466;Q9BZW8 Hs.157872 1647397;1706254 D1S2348;SHGC-80670 2B4;NAIL;NKR2B4;Nmrk;SLAMF4 NK cell activation inducing ligand NAIL;NK cell activation-inducing ligand;NK cell type I receptor protein 2B4;OTTHUMP00000027884;OTTHUMP00000027885;OTTHUMP00000027886;OTTHUMP00000027887;SLAM family member 4;h2B4;natural killer cell receptor 2B4;non mhc restricted killing associated;signaling lymphocytic activation molecule 4 APPROVED protein-coding ENSG00000122223 18171 16121 180300;605554 REVIEWED 1353954 CD248 CD248 molecule, endosialin 11 11 q13 65838534 65841091 - 66081958 66084515 - 6480464 10947988;18813310;18761022;18723498;18490383;18192970;18187565;17986615;16076089;15862292;15624764;15489334;14702039;12477932;11489895;11084048;1438285;19948061;20484976;21362178;22206249;21537839;21490589;21926972 57124 Q9HCU0 ABBA01024085;AF279142;AJ295846;AK027290;AMYH01003733;AP001107;BC051340;BC104484;BC105633;BQ005949;CH471076;NM_020404 AAG00867;AAH51340;AAI04485;AAI05634;BAB55018;CAC34381;EAW74511;NP_065137;Q9HCU0 Hs.195727 1769056 STS-R55548 CD164L1;MGC119478;MGC119479;TEM1 2610111G01Rik;CD164 sialomucin-like 1;CD248 antigen, endosialin;OTTHUMP00000235028;endosialin;tumor endothelial marker 1 protein-coding ENSG00000174807 18219 06933 606064 VALIDATED 736538 CD247 CD247 molecule The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q24.2 165666505 165754450 - 167399877 167487847 - 1600789;1580863;6480464;6484113;6907045;7240710 16672702 15743765;15659558;15641485;15592455;15489334;15323357;15274412;15144186;14967045;14757743;14715568;14672952;14550268;14526327;14523017;12928398;12902492;12847689;12755691;12731048;12587826;12522270;12477932;12421992;12420108;12356870;12202152;12176041;12165490;12100036;11950832;11920499;11916964;11891219;11851345;11714771;11572860;11349123;10799879;10722370;10449770;10424441;10224289;9880255;9743208;9687533;9677202;9625766;9575182;9510190;9485181;9484780;9448136;9368621;9172452;9047237;9045614;8977276;8809126;8760790;8675217;8656061;8366117;8125298;7842742;7680960;7629168;7589084;12110186;8176201;11390434;11048639;11827988;15489916;17652306;1390434;19536175;19422667;19229850;19201859;19090773;19082633;19064610;18787188;18721908;18714041;18505733;18463433;18215426;18207249;18178846;18174230;17997796;17951997;17464179;17255353;17176095;17134755;17134238;17055436;17054067;16710414;16616055;16393980;16337488;16094384;15922712;15879101;15749888;7528772;7526385;7517794;7514106;3785426;3478717;2974162;2845582;2145165;2138330;2138083;2111780;1717577;1532817;1530920;1454062;1385321;1385158;17001685;16454711;15186530;12734410;11463741;11525746;7737297;22798681;20453842;16049493;16461343;19259799;19664385;19898481;20032419;20118245;20190752;20237496;20383147;21383967;23057733;8409430;8417118;20179761;15084271;11353765;9036949;20723304;21669053;21669059;21474487;22221142;22551306;22004975;22294642;22401598;22536368;21750679;21779181;22292024;20637659;21988832;23228155;8626561;18051367;18438604;19710135;22345473;22505724;22844345;22911005 919 A46461;P20963;Q6KAV0 ABBA01047243;ABBA01047244;AF228312;AI420774;AK128376;AK223325;AK313946;AL031733;AL359962;AL557555;AMYH01001483;AMYH01001484;BC025703;BI819937;CH471067;DQ072717;EF364119;EU117371;EU117372;EU117373;EU118788;EU118789;EU118790;EU118791;EU118792;EU118793;EU597245;J04132;NG_007384;NM_000734;NM_198053;S51397;S94400;S94404;S94414;S94421;X55510;X55511;X55512 A46461;AAA60394;AAB22030;AAB24602;AAF34793;AAH25703;AAY57330;ABM84704;ABQ28690;ABW03642;ABW06577;ABW06578;ABW06579;ABW96174;ABW96175;ABW96176;ABW96177;ABW96178;ABW96179;ACC61185;BAC87407;BAD97045;BAG36664;EAW90790;EAW90791;EAW90792;NP_000725;NP_932170;P20963 Hs.156445 1667129;1675337;1793172;1795516;2110847;2113660;2145031 CD3Z;CD3Z_527;D1S61;PMC197251P5;RH17588;RH93108;STS-M78967 CD3-ZETA;CD3H;CD3Q;CD3Z;T3Z;TCRZ CD247 antigen, zeta subunit;CD3Z antigen, zeta polypeptide (TiT3 complex);CD3zeta chain;OTTHUMP00000032543;OTTHUMP00000032544;T-cell antigen receptor complex, zeta subunit of CD3;T-cell receptor T3 zeta chain;T-cell surface glycoprotein CD3 zeta chain;TCR zeta chain;cd3 antigen, zeta polypeptide APPROVED protein-coding ENSG00000198821 1677 01729 186780;610163 REVIEWED 6482941 CD27-AS1 CD27 antisense RNA 1 12 p13.31 6548167 6560683 - 12477932;14702039 678655 ABBA01017642;AC005840;AK056500;AK128574;AK307123;AMYH01004203;BC033973;BC041960;BC047072;NR_015382 Hs.655224 1656391;2137196;2161282;5015619 D11S3114;RH17725;SHGC-2359;WI-7129 APPROVED miscrna ENSG00000215039 43896 PREDICTED 1353701 CD27 CD27 molecule The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008] 12 12 p13 6424312 6431145 + 6554051 6560884 + 1580863;1581860;6480464 16698589 20974987;22429370;22197273;12324477;14556986;10809378;12624711;19290077;19109206;18774388;18512812;18322179;18216294;18005092;17942751;17785788;17548342;17475894;16951333;16802356;16751420;16272303;15723067;15685542;15489334;15356138;15340161;15301860;15230280;14702039;19322201;12743427;12685844;12477932;12464570;12197885;12009595;11976819;11801693;11062504;9862673;9794406;9767422;9692890;9582383;9177220;8580829;8530100;8186199;8120384;7479974;2837508;2442250;1655907;1334106;9263011;1711157;16683188;19556308;19698733;19773279;19776762;19866343;20201989;20237496;20393787;21182090;20377416;20568250;20800603;21048031;20879061;20800938;21237436;20699361;23002119;22280534;21277898;21952639;23263849;22232214;21607290;22087280;23576505;23456842;22399187 939 P26842 ABBA01017642;AC005840;AK315732;AMYH01004203;AY504961;BC012160;BI225100;CH471116;HI179022;HI574192;JA323323;M63928;NG_031995;NM_001242 AAA58411;AAH12160;AAR84239;ABM83222;ABW03460;BAG38087;CBX47585;CBX53820;CCA78935;EAW88800;NP_001233;P26842 Hs.355307 1656391;2137196;2218100 RH17725;TNFRSF7_2819;WI-7129 MGC20393;S152;S152. LPFS2;T14;TNFRSF7;Tp55 CD27 antigen;CD27L receptor;OTTHUMP00000238557;T cell activation antigen CD27;T cell activation antigen S152;T-cell activation antigen CD27;tumor necrosis factor receptor superfamily member 7;tumor necrosis factor receptor superfamily, member 7 APPROVED protein-coding ENSG00000139193 11922 01723 186711;615122 REVIEWED 1605684 CD274 CD274 molecule 9 9 p24 5440559 5458477 + 5450503 5470567 + 6480464;6893669;6893671 21494618;20876353 21478111;22397822;22271878;21514692;22461641;22503210;22711893;10581077;19535643;19451266;19229109;19116915;19088198;19081139;19056397;19010538;18981087;18941206;18924219;18850006;18830259;18760278;18756622;18684942;18676751;18650129;18608206;18585785;18572307;18566376;18550794;18549878;18490751;18378285;18347814;18322304;18301333;18294387;18203952;18173375;18086898;17942371;17938288;17920123;17603844;17597384;17562772;17475895;17415709;17363736;17360651;17311651;17203303;17186290;17136123;16916652;16876901;16530813;16493058;16482562;16282703;16265694;16221208;16085391;16002716;15973152;15837746;15780196;15489334;15342209;15297412;15164053;15131796;14702039;14686489;14617032;12923066;12893276;12800259;12719480;12704383;12646628;12606489;12538684;12477932;12468426;12244148;12091876;11015443;20445553;20617899;20677014;21268011;21269571;20522597;20636820;17366897;18024277;18476597;18705009;18756934;19264916;19442732;19597183;19604093;19664385;19684086;19688742;19703193;19729380;19739236;19759858;19794071;19811426;19826049;19830728;19850680;19916867;19950173;20066438;20126379;20367936;17963598;20363965;20506224;20145927;20814675;20817864;20349059;20450779;20513078;18578991;19570392;19224168;20473887;20646001;20587542;20682852;21076061;20601920;20628145;17076679;22430646;22462616;21461580;20722638;20661763;21203985;20626886;21791547;18652314;19297851;20386557;21355078;18928614;19698245;21509782;21830424;19958630;21442435;21555531;21659460;21674477;23288508;23660190;21982860;22739151;22895698;23107341;23193072;21540239;21697455;21503939;21730022;20943073;21912640;22408358;21876620;21844574;21949023;20373055;22894700;23275603;21911310;22174448;22133721;22204817;22190470;23403048;21733718;21851845;21645441;11224527;22828443;22067141;22285902;22322668;22441249;22482418;22661084;22851860;22389764;23383287;23398844;21821233;23243206;23430453 29126 Q0GN75;Q2V8D5;Q9NZQ7 ABBA01065413;AF177937;AF233516;AI826502;AK001894;AK300470;AK314567;AL135786;AL162253;AMYH01019203;AY254342;AY291313;AY714881;BC069381;BC074984;BC113734;BC113736;CH471071;DQ286582;DQ836393;JA738699;NM_001267706;NM_014143;NR_052005 AAF25807;AAG18508;AAH69381;AAH74984;AAI13735;AAI13737;AAP13470;AAP42144;AAU09634;ABB90152;ABI16084;ADR82905;BAA91966;BAG37149;BAG62189;CCF77002;EAW58763;NP_001254635;NP_054862;Q9NZQ7 Hs.521989 1645972;1685484;1705354;1797974;1852570 PDCD1LG1_2379;RH45176;RH78877;RH92039;SHGC-83529 B7-H;B7H1;MGC142294;MGC142296;PD-L1;PDCD1L1;PDCD1LG1;PDL1 B7 homolog 1;CD274 antigen;OTTHUMP00000021029;PDCD1 ligand 1;programmed cell death 1 ligand 1;programmed death ligand 1 protein-coding ENSG00000120217 17635 05655 605402 VALIDATED 1604282 CD276 CD276 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 15 15 q23-q24 71763675 71793912 + 73976622 74006859 + 6480464 22187944;11224528;15188059;19454675;18941196;18694993;18690846;18676751;18650384;18292521;17406098;16303743;16274630;16049332;15961727;15682454;15489334;15314238;14764704;14702039;12975309;12906861;12477932;12055244;21738484;17851789;19269710;19544488;20035626;20333377;21344157;20696859;21107115;21127709;21792917;21251161;22910694;22487487;21784485;22729558;21518725;21875946;21597388;21671471;21982044;21987572;21893365;22001757;21906983;21963094;22996270;22863596;22473715 80381 H0YK40;H0YK59;H0YKQ9;H0YL10;H0YLT3;H0YLT8;H0YN29;H0YN85;H3BM68;Q5ZPR3 ABBA01038707;ABBA01038708;AC022188;AC100838;AF302102;AJ583695;AK074849;AK074997;AK075549;AK291721;AK292711;AK296358;AK298522;AK309728;AL360136;AMYH01006777;AY358343;BC011578;BC062581;BQ278722;CA420873;CB529187;CH471082;NM_001024736;NM_025240 AAH62581;AAK15438;AAQ88709;BAC11243;BAC11344;BAC11692;BAF84410;BAF85400;BAG59038;BAG60725;CAE47548;EAW77933;EAW77934;NP_001019907;NP_079516;Q5ZPR3 Hs.77873 1644617;1664255;2129151 RH44372;RH77831;STS-W52184 4Ig-B7-H3;B7-H3;B7H3;B7RP-2 B7 homolog 3;CD276 antigen;OTTHUMP00000174913;OTTHUMP00000174914;costimulatory molecule APPROVED protein-coding ENSG00000103855 19137 05756 605715 VALIDATED 735932 CD28 CD28 molecule The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 2 2 q33 204279443 204310801 + 204571198 204603635 + 1358478;1580863;2307200;2307201;2307197;2307202;2307203;2307204;2307199;2307205;5131622;5131621;5131613;5131614;5131611;5131612;5131616;4892281;5131619;5131620;5131618;6480464;6907045 14975605;11160314;9410902;15504310;18601859;16061730;12864982;11685455;12750179;17989345;18056387;20030671;18801465;21389258;21356099;20713624;20395561;19075187;18057064;19220836 17767555;17703412;17467674;17311991;17284227;17242350;17237383;17197413;17119120;17060905;17015696;16969077;16818765;16801532;16708397;16698688;16638702;16564528;16493040;16339520;16237465;16169852;16136471;16112024;16094384;16005527;15953005;15815621;15592455;15554700;15494485;15489334;9784967;3159820;8717514;3875683;12028592;7492435;11285224;18641304;11390434;19333372;19299722;19284445;19258923;19217084;19211796;19203082;19202444;19109140;18989760;18802089;18684977;18680513;18625635;18617642;18573819;18566447;18566382;18396212;18390701;18389481;18337305;18295596;18211507;18174230;18162511;18097023;17899554;17878391;17878327;17804530;17785788;15353589;15284240;15280538;15214045;15194762;22579879;1355979;1313075;1832084;17023015;9328113;8450224;7541827;8706326;7589092;12836198;10618429;16454711;15078178;16354571;16091223;12734410;15610849;15144186;15079071;15067037;15019278;14984593;14697933;14642527;14550257;12963692;12952926;12928366;12864988;12842899;12626540;12506015;12482386;12477932;12434947;12393716;12377947;12324461;12297341;12207353;12195015;12195013;12167647;12121659;12097397;12077252;12059054;12050373;12036883;11986289;11958588;11932928;11916166;11884439;11877290;11830501;11826754;11826026;11735222;11714771;11713465;11680900;11500828;11123293;11021528;10820259;10754293;10586033;10430626;9694876;9510190;9045614;8992971;8760790;8621607;8576157;8386518;8080844;7737275;7545666;7539755;7523532;7516408;7513726;7509360;2825196;2162892;2157764;2156778;1847722;22230325;22503210;19190244;22732586;21268019;20842443;16344560;21160481;21530327;7566098;12660731;18246813;18751903;18829987;19380781;19573080;19641626;19672595;19735272;19752224;19773279;19824886;19852851;19857736;19898481;19913589;19959217;20113255;20126467;20137575;20190752;20228198;20237496;20331378;20368329;20371478;20433886;20435510;20470888;20503287;9032261;9915850;20814620;20858890;20477885;20140740;20568250;20716621;20846283;20962715;21048031;12777399;20844584;20863851;21291098;21384512;19086656;21277899;21540550;21508506;21324454;21677403;21715687;22385243;23589613;21669243;21931534;22013130;22094905;22783574;19214786;20390280;21841780;21982860;22917707;23470321;23133541;23456842;18438604;18473783;18570590;19149577;19275586;19327048;19449444;19770068;20012528;20380698;20463068;20638642;21068258;21543478;21922073;22013062;22103833;22175768;22505724;22844345;22896637;22911005;21544637 940 B4E0L1;Q70WG0;Q9BYV0 AA311148;ABBA01062617;AC125238;AF222341;AF222342;AF222343;AF411057;AJ295273;AJ517504;AK292986;AK303421;AK313313;AMYH01011418;AW241446;BC093698;BC112085;BF509568;CH471063;DA939711;EF064755;J02988;M37815;NG_029618;NM_001243077;NM_001243078;NM_006139 AAA51944;AAA51945;AAA60581;AAF33792;AAF33793;AAF33794;AAH93698;AAI12086;AAL40931;AAY24123;ABK41938;BAF85675;BAG36118;BAG64473;CAC29237;CAD57003;EAW70347;EAW70348;EAW70349;EAW70350;EAW70351;NP_001230006;NP_001230007;NP_006130;P10747 Hs.443123 1795238;2134281;2183293;5037552 CD28_86;D2S2596;D8S2279;RH68962 MGC138290;Tp44 CD28 antigen;OTTHUMP00000163782;OTTHUMP00000206300;OTTHUMP00000206302;T-cell-specific surface glycoprotein CD28 APPROVED protein-coding 1653 01727 186760 REVIEWED 2290269 CD300LD CD300 molecule-like family member d 17 17 17 q25.1 69168587 69180824 - 70087099 70100011 - 72576111 72588370 - 12975309;19359216;19592130;21982860;23072861;22291008 100131439 Q6UXZ3 ABBA01028836;AC079325;AMYH01008625;AY358148;EF137868;NM_001115152 AAQ88515;ABM30606;NP_001108624;Q6UXZ3 Hs.531099 CD300D;CLM-4;CMRF35-A4;CMRF35A4 CD300 antigen-like family member D;CLM-4;CMRF35-A4;CMRF35-like molecule 4;CMRF35A4;OTTHUMP00000070883;immune receptor CD300d protein-coding 16848 PROVISIONAL 1344130 CD300A CD300a molecule This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 17 17 q25.1 69974117 69992528 + 72462522 72480937 + 6480464 18535206;18424727;17588661;16339535;15489334;12477932;12456026;10746781;10540326;9701027;1349532;20656921;19359216;19592130;20237496;20498708;21482706;22302738;22046970;22173928;22185693;22043923;22537350 11314 J3QKQ4;Q9UGN4 ABBA01028838;AC079325;AF020314;AF161346;AF176991;AJ010101;AJ010102;AJ010103;AJ224864;AJ238323;AK309631;AK309636;AMYH01008623;AMYH01008624;BC020681;BC032352;BF059016;BM923070;CH471099;JA738695;NM_001256841;NM_007261 AAD01646;AAF28906;AAF89957;AAH32352;CAB52291;CAB52292;CAB52293;CAB55347;CAB66145;CCF77000;EAW89166;EAW89167;EAW89168;NP_001243770;NP_009192;Q9UGN4 Hs.9688 1739653;1760265;1853897;2135780;2144020;2176388;5092984 A009D33;D17S1727E;D17S1985;D17S690;G32451;SHGC-132578;SHGC-36245 CLM-8;CMRF-35-H9;CMRF-35H;CMRF35-H;CMRF35-H9;CMRF35H;CMRF35H9;IGSF12;IRC1;IRC1/IRC2;IRC2;IRp60 CD300 antigen-like family member A;CLM-8;CMRF35-H;CMRF35-H9;CMRF35-like molecule 8;CMRF35H leukocyte immunoglobulin-like receptor;IRC1/IRC2;NK inhibitory receptor;OTTHUMP00000070877;OTTHUMP00000070878;OTTHUMP00000070879;immunoglobulin superfamily member 12;inhibitory receptor protein 60;leukocyte membrane antigen APPROVED protein-coding ENSG00000167851 19319 09492 606790 VALIDATED 1605230 CD300E CD300e molecule This gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase-binding protein and is thought to act as an activating receptor. [provided by RefSeq, Nov 2012] 17 17 17 q25.1 69201147 69212237 - 70120307 70131396 - 72606022 72619897 - 6480464 15557162;15549731;12477932;20200953;19359216;19592130;20039296;23072861 342510 B4E0V9;C9JDD2;J3KPN5;J3KR39;Q496F6 ABBA01028836;AC064805;AF395839;AK298031;AK303545;AMYH01008625;BC100888;BC100889;BC100890;BX648376;CH471099;NM_181449 AAI00889;AAI00890;AAI00891;AAP42154;BAG60333;BAG64571;EAW89175;EAW89176;NP_852114;Q496F6 Hs.158954 1719147 RH123291 CD300LE;CLM-2;CLM2;CMRF35-A5;IREM-2;IREM2;PIgR-2;PIgR2 CD300 antigen like family member E;CD300 antigen-like family member E;CD300e antigen;CLM-2;CMRF35-A5;CMRF35-like molecule 2;IREM-2;OTTHUMP00000070871;PIgR-2;PIgR2;immune receptor expressed on myeloid cells 2;poly-Ig receptor 2;polymeric immunoglobulin receptor 2 APPROVED protein-coding ENSG00000186407 28874 17158 609801 VALIDATED 1347906 CD2AP CD2-associated protein This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008] 6 6 p12 47553484 47702958 + 47445525 47594999 + 1581187;1600628;1580863;6480464;7240710 16088078;12764198 11067845;10913159;10339567;18029348;19131354;18791326;18396147;17922258;17853893;17823309;17713465;17606992;17188587;17081983;17020880;16895919;16707503;16678097;16344560;15800069;15659563;15592455;15489334;14679214;12690097;12672817;12559036;12530983;12477932;12029088;11733557;10997929;21460840;9741631;8889548;15128873;21460841;12618476;14736876;17474147;19945749;19956976;20379614;20404345;20515931;20457601;22863883;19380743;21911934;21519904;21655212;21890473;20360068;20654576;18753381;22706086;17428861;21822214;22745667;18654987;19738201;21706016;21963094;21988832;22623428;23279575;22412018;22880102;22939629;17072306;20697350 23607 Q9Y5K6 ABBA01050606;ABBA01050607;ABBA01050608;AF146277;AF164377;AJ420469;AL050105;AL355353;AL356421;AL358178;AMYH01016330;AMYH01016331;AMYH01016332;BC069444;BU679191;CH471081;DA040834;NG_008878;NM_012120 AAD34595;AAF80495;AAH69444;CAB43274;EAX04319;NP_036252;Q9Y5K6 Hs.485518 1336337;1657600;1685225;1704916;1739081;1771078;1857817;2175556 78;D6S1352;D6S1689;RH46766;RH70071;RH91996;SHGC-79935;WI-17603 CMS;DKFZp586H0519 CD2-associated protein;Cas ligand with multiple Src homology 3 (SH3) domains;OTTHUMP00000016562;adapter protein CMS;cas ligand with multiple SH3 domains APPROVED protein-coding ENSG00000198087 14258 05026 604241;607832 REVIEWED 1323355 CD2BP2 CD2 (cytoplasmic tail) binding protein 2 This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008] 16 16 p11.2 30271669 30274128 - 30362087 30366682 - 1580863;6480464 17353931;12226669;9843987;17906334;17467737;17081983;16949628;16941565;16403013;16120600;16000308;15850374;15840814;15489334;15105431;12477932;12426371;10574461;10404223;2527369;1831175;21145461;19615732;16712791;19759913;22990118;8889548;22939629;19389623;17332742;20360068 10421 O95400;Q5QTR6 AB033004;ABBA01042020;AC106782;AF104222;AF109192;AK315708;AMYH01007497;BC000495;BC001947;BC013854;BC106082;BM678260;CB135964;CH471192;NM_001243646;NM_006110 AAC84141;AAH00495;AAH01947;AAQ13502;ABM84500;ABW03431;BAA86492;BAG38069;EAW52260;EAW52261;NP_001230575;NP_006101;O95400 Hs.202677 1682652;1683747;1690428;1698636;1736598;1736620;1778355 Cda1bg06;D16S2595E;D16S2607E;RH102875;RH78448;RH98473;SHGC-60983 FWP010;LIN1;PPP1R59;Snu40;U5-52K CD2 antigen (cytoplasmic tail) binding protein 2;CD2 antigen cytoplasmic tail-binding protein 2;CD2 binding protein 2;CD2 cytoplasmic domain binding protein 2;CD2 cytoplasmic domain-binding protein 2;CD2 tail-binding protein 2;OTTHUMP00000163230;U5 snRNP 52K protein;protein phosphatase 1, regulatory subunit 59 APPROVED protein-coding ENSG00000169217 1656 05127 604470 REVIEWED 1349208 CD300C CD300c molecule The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69129737 69134772 - 70048842 70053877 - 72537247 72542282 - 6480464 1349532;18535206;15489334;12477932;12456026;12415263;11556966;10746781;19359216;19592130;20656921;22046970;15342556 10871 Q08708 ABBA01028836;AC079325;AF373866;AMYH01008624;BC022279;BF508242;BP298972;CH471099;NM_006678;X66171 AAH22279;AAK64272;ABM82926;ABM86116;CAA46948;EAW89171;NP_006669;Q08708 Hs.2605 1797412 CMRF35_1922 CLM-6;CMRF-35;CMRF-35A;CMRF35;CMRF35-A1;CMRF35A;CMRF35A1;IGSF16;LIR CD300 antigen-like family member C;CLM-6;CMRF-35;CMRF35 antigen;CMRF35 leukocyte immunoglobulin-like receptor;CMRF35-A1;CMRF35-like molecule 6;CMRF35A leukocyte immunoglobulin-like receptor;OTTHUMP00000070874;immunoglobulin superfamily member 16 APPROVED protein-coding ENSG00000167850 19320 09491 606786 VALIDATED 1604243 CD300LB CD300 molecule-like family member b CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69109803 69120103 - 70028908 70039208 - 72517313 72527613 - 6480464 17928527;16920917;16344560;12975309;12477932;19359216;19592130;20237496;20379614;21832049;23072861 124599 A8K4G0;B4DQ71 ABBA01028838;AC079325;AF427618;AK290925;AK298665;AMYH01008624;AY359025;AY646929;BC028091;CH471099;DA673717;NM_174892 A8K4G0;AAH28091;AAN86133;AAQ89384;AAV69612;ABM84511;ABM87832;BAF83614;BAG60833;EAW89169;EAW89170;NP_777552 Hs.313343 1765891 SHGC-149307 CD300b;CLM-7;CLM7;CMRF35-A2;IREM-3;IREM3;TREM-5;TREM5 CD300 antigen like family member B;CD300 antigen-like family member B;CD300 molecule like family member b;CMRF35-like molecule 7;OTTHUMP00000070873;immune receptor expressed on myeloid cells 3;leukocyte mono-Ig-like receptor 5;triggering receptor expressed on myeloid cells 5 APPROVED protein-coding ENSG00000178789 30811 18223 610705 VALIDATED 1601720 CD300LG CD300 molecule-like family member g Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008] 17 17 17 q21.31 38632527 38649008 + 39280070 39296521 + 41924516 41940997 + 6480464 17207965;15340161;16876123;12975309;12477932;19359216;19592130;16754720 146894 K7EL06;Q6UXG3 ABBA01028397;AC007993;AC015937;AF427619;AF427620;AK298112;AK309938;AMYH01008409;AY358364;BC025395;CH471178;DC380538;NM_001168322;NM_001168323;NM_001168324;NM_145273 AAH25395;AAN86134;AAN86135;AAQ88730;ADQ31684;BAG60397;EAW51657;EAW51658;EAW51659;EAW51660;NP_001161794;NP_001161795;NP_001161796;NP_660316;Q6UXG3 Hs.147313 1720387;5109795 D17S1504E;RH123945 CLM-9;CLM9;NEPMUCIN;TREM-4;TREM4 CD300 antigen like family member G;CD300 antigen-like family member G;CD300 molecule like family member g;CLM-9;CMRF35-like molecule 9;TREM-4;triggering receptor expressed on myeloid cells 4 APPROVED protein-coding ENSG00000161649 30455 18222 610520 VALIDATED 1603897 CD300LF CD300 molecule-like family member f CD300LF is an inhibitory receptor of the Ig superfamily expressed on myeloid cells. It mediates negative regulatory signals by recruiting SHP1 (PTPN6; MIM 176883) or SHIP (INPP5D; MIM 601582) (Sui et al., 2004 [PubMed 15184070]; Alvarez-Errico et al., 2004 [PubMed 15549731]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 69283430 69302299 - 70202047 70220703 - 72690452 72709108 - 6480464 17202342;15549731;15489334;15340161;15184070;14702039;14662855;12975309;12477932;20031577;19359216;19592130;20646006;21536801;21832049;23072861;21951326;22043923;22288587 146722 J3KS52;Q8N6D0 ABBA01028833;AC016888;AF251706;AF375480;AF375481;AK092757;AK298752;AK315165;AMYH01008626;AY303545;AY358545;BC028199;BI911496;BM147210;BM923728;CH471099;DQ153249;HI565651;NM_139018 AAH28199;AAM19099;AAP42152;AAP42153;AAP57942;AAQ88909;AAZ81566;BAC03966;BAG37609;BAG60894;CBX47386;EAW89184;EAW89185;EAW89186;EAW89187;NP_620587;Q8TDQ1 Hs.567706 CD300f;CLM-1;CLM1;IREM-1;IREM1;IgSF13;NKIR CD300 antigen like family member F;CD300 antigen-like family member F;CD300 molecule like family member f;CLM-1;CMRF35-like molecule 1;IREM-1;NK inhibitory receptor;OTTHUMP00000070875;immune receptor expressed on myeloid cells 1;immunoglobin superfamily member 13;immunoglobulin superfamily member 13;inhibitory receptor IREM1 APPROVED protein-coding ENSG00000186074 29883 17635 609807 VALIDATED 1352822 CD320 CD320 molecule This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 19 19 p13.3-p13.2 8273011 8279239 - 8367011 8373240 - 6480464;7240710 10727470;11256614;19123977;15489334;12975309;12477932;11418631;11318610;11230166;8125298;20524213;20627121;18779389;16712791;20577008;22116453;20972266;21139048;21906983;21987572;22505724 51293 M0R100;M0R1C4;Q9NPF0 ABBA01010852;AC010323;AF161254;AK058014;AK222623;AK315656;AL136652;AL365453;AL365455;AMYH01009439;AY358420;BC000668;BC007083;BC036814;CB141050;CH471139;CR457174;NG_028124;NM_001165895;NM_016579 AAF61850;AAH00668;AAH07083;AAQ88786;ACE87251;BAD96343;BAG38022;CAB66587;CAB97009;CAB97010;CAG33455;EAW68936;EAW68939;NP_001159367;NP_057663;Q9NPF0 Hs.558499 2160910 RH36281 8D6;8D6A;TCBLR 8D6 antigen;CD320 antigen;FDC-SM-8D6;FDC-signaling molecule 8D6;transcobalamin receptor APPROVED protein-coding ENSG00000167775 16692 05929 606475;613646 REVIEWED 1347694 CD33 CD33 molecule 19 19 q13.3 56420147 56435086 + 51728335 51743274 + 1580863;6480464 10611343;3139766;18976728;18794057;18767926;18615103;18331725;18085638;18062779;17662271;16380601;15676214;15489334;15454492;15388576;15342556;12477932;12144127;12063025;11970770;11964282;11943481;11774609;11320212;10556798;10206955;9465907;8702538;8454872;7718872;7505004;1696442;15611322;22382309;21081841;21460841;19572148;19259613;20147975;20237496;20379614;21048031;21460840;21348573;21278227;23623698;21329979;21993666;21906983;21988832;22167654;18051367;19275586 945 B4DF51;P20138;Q546G0 ABBA01068278;AC063977;AJ491319;AK090470;AK293934;AK304810;AK309558;AMYH01009951;AW007749;AY040541;AY162464;BC028152;BP295158;BP303860;CA426969;CA748646;CH471135;JA738577;JA738579;M23197;NM_001082618;NM_001177608;NM_001772 AAA51948;AAH28152;AAK83654;AAO26206;ABM82652;ABM85829;BAC03451;BAG57312;BAG65560;CAD36509;CCF76941;CCF76942;EAW71994;EAW71995;EAW71996;NP_001076087;NP_001171079;NP_001763;P20138 Hs.83731 1797364;2146232;5014051;5021872;5037552;5096560 CD33_2604;D1S3202;D8S2278;D8S2279;RH11526;sY3084 FLJ00391;SIGLEC-3;SIGLEC3;p67 CD33 antigen (gp67);gp67;myeloid cell surface antigen CD33;sialic acid binding Ig-like lectin 3;sialic acid-binding Ig-like lectin 3 protein-coding ENSG00000105383 1659 01165 159590 VALIDATED 1315723 CD34 CD34 molecule The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 q32 206126506 206151306 - 208059883 208084683 - 1580863;6480464 21364636;21527751;15249540;12588680;19437324;19421145;19383239;19323831;19245435;19244164;19194276;19157505;18985821;18922853;18842716;18822690;18818438;18813945;18760838;18757300;18698330;18683236;18604736;18562079;18555590;18511598;18436865;18402976;18317882;18292296;18231114;18223188;18218912;18190781;18187924;18092954;18088553;18085638;18061957;18054528;18048043;18025805;17959862;17923501;17885669;17880611;17786144;17656039;17511030;17505307;17474795;17449014;17429142;17310847;17253947;17229904;17185613;17095623;17090657;17077283;17038503;16830365;16710414;16698689;16698686;16557578;16552335;16415795;16305332;16286998;16278377;16133456;16133360;16051386;15996935;15941859;15752760;15735742;15704650;15569991;15536192;15489334;15277701;15254762;15246162;15242879;15063762;14744088;14718574;14702039;12883699;12865405;16439688;22009965;12827650;12477932;12393741;12393633;12393582;12215337;12161354;12091359;11983914;11798512;11782553;11757722;11389015;10648383;10330415;10233696;9780190;9108388;8889549;8547678;8541536;7678811;2462139;1694174;1693532;1374051;1370171;10373550;21435112;22499302;16398042;21078695;21488087;21808991;21808992;21308741;21440782;20431906;20353905;22395498;20479285;20819778;20181261;20601304;20702587;20653822;20356686;19340613;20724541;18371060;18410526;18798798;19043799;19226222;19372622;19406403;19535348;19640275;19644143;19661015;19746588;19746591;19753521;19762535;19817957;19855080;19952356;20028384;20038636;20067819;20175958;20232575;20378847;20379614;20388788;20639392;20675279;22952296;20403242;20559119;21206086;21318598;21238532;22448926;23473998;22233112;21330473;21670473;21873977;21737787;21333372;21559522;21457155;21762201;21835908;20821344;21330325;22025365;22372906;21710717;21367453;21700895;21054781;21884210;22084125;10337918;12939361;15969628;17261663;17464107;1868864;7525669;9042286;9815891;21651317;22199261;22547906;21276080;21933861;22118372;22249946;21674250;22581926;22574784;22862965;23326517;22163120;23327923;22775584 947 B4DG27;P28906;Q5JTA5 AA022917;AB238231;ABBA01048240;AF202879;AF523361;AF538601;AK091890;AK291529;AK293030;AK294381;AK300835;AL356275;AMYH01001691;BC039146;BX538076;CH471100;CS104354;M81104;M81945;NM_001025109;NM_001773;S53910;S53911 AAA03181;AAA03659;AAB25222;AAB25223;AAF14634;AAH39146;AAM82157;AAN15135;ABM82354;ABM85529;BAE46748;BAF84218;BAF85719;BAG57638;BAG62486;CAD98000;CAJ01226;EAW93458;EAW93459;NP_001020280;NP_001764;P28906 Hs.374990 1722593;1750177;1791440;1791442;1795514;2128275;2178351;2178467 CD34_304;D1S3317;G60378;PMC110554P1;PMC110554P2;RH69685;RH70214;SHGC-112283 CD34 antigen;OTTHUMP00000034733;OTTHUMP00000034734;hematopoietic progenitor cell antigen CD34 APPROVED protein-coding ENSG00000174059 1662 00790 142230 REVIEWED 1350388 CD302 CD302 molecule CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008] 2 2 2 q24.2 154236985 154266601 - 160333610 160362999 - 160625139 160654766 - 6480464 19317456;17947679;15815621;15489334;12824192;12477932;8889548;7584028;7584026;20237496;20861185;16344560;18420585;20921139 9936 Q8IX05 ABBA01004868;AC009961;AF499000;AK125081;AK291279;AK304422;AMYH01011206;AY314007;BC020646;CB240843;CH471058;D14664;DB217404;DB460994;NM_001198763;NM_001198764;NM_014880 AAH20646;AAN77050;AAP79900;AAY14942;BAA03498;BAF83968;BAG65251;EAX11399;NP_001185692;NP_001185693;NP_055695;Q8IX05 Hs.130014;Hs.153563 1335374;1649421;1858014;2119134;2125281;2170991;5037552;7184866;7186547 A007L02;D2S156;D2S2971;D8S2279;RH25260;RH70502;SGC30020 BIMLEC;CLEC13A;DCL-1;DCL1;FLJ43091;KIAA0022;MGC22301 C-type lectin BIMLEC;C-type lectin domain family 13 member A;C-type lectin domain family 13, member A;DEC205-associated C-type lectin 1;OTTHUMP00000205017;type I transmembrane C-type lectin receptor DCL-1 APPROVED protein-coding ENSG00000241399 30843 09906 612246 VALIDATED 1344403 CD3W CD3W antigen, omega polypeptide (TiT3 complex) 918 1676 1346523 CD37 CD37 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.3 54530489 54535675 + 49838677 49843863 + 634638;1580863;6480464 8436422 2466944;17440052;17182550;15489334;15342556;14978098;12477932;11739647;10529602;10405235;10229664;8452817;8119731;3257508;2388030;1879540;19913121;20628086;20709950;22624718 951 B7ZAN3;M0QZ33;M0QZP6;M0R083;M0R1J1;P11049;Q96LM7 AA767248;ABBA01032933;AC010524;AC011450;AK058093;AK301016;AK301328;AL833693;AMYH01009911;BC106752;BC110379;BP309557;BT019851;CH471177;CR541877;HI179050;HI179052;NM_001040031;NM_001774;X14046 AAI06753;AAI10380;AAV38654;BAB71662;BAG62633;BAG62877;CAA32204;CAG46675;CBX53834;CBX53835;EAW52466;EAW52467;EAW52468;NP_001035120;NP_001765;P11049 Hs.166556 1670329;1677558;2144468;5037552 D8S2279;RH93092;STS-AA024912;WI-15345 GP52-40;MGC120234;TSPAN26 cell differentiation antigen 37;leukocyte antigen CD37;leukocyte surface antigen CD37;tetraspanin-26;tspan-26 APPROVED protein-coding ENSG00000104894 1666 01053 151523 REVIEWED 735841 CD38 CD38 molecule CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion,signal transduction and calcium signaling. [provided by RefSeq, Jul 2008] 4 4 p15 15389029 15459806 + 15779931 15850706 + 1580863;1300048;2307239;2307232;2307231;2307228;2307229;2307243;2307230;2307227;2307233;2307236;2307234;6480464;6907045 16343077;12242463;12488956;19300526;16920929;12111041;16459468;19073639;9754820;18719074;7669044 22236458;22251373;23156678;10777496;8253715;19240243;19117080;19052657;19021053;18940667;18759251;18689273;18674817;18581239;18534062;18519815;18519230;18441094;18431797;18424664;18403265;18341691;18326821;18323656;18322442;18319522;18212246;18178673;18162778;18024373;17931624;17852458;17786980;17684154;17591784;17534928;17440035;17327405;17322278;17287849;17287729;17191385;17173996;17107912;17028452;16932341;16909600;16861223;16841181;16839787;16825496;16642047;16601673;16571778;16568475;16544364;16369895;16329108;16293598;16154090;15964076;15941914;15764953;15759031;15613544;15556942;15489334;15219386;15028729;14990397;14983032;14759258;14749705;14596927;14523017;12917263;12854897;12763926;12718937;12529675;12477932;12461619;12386160;12382646;12368155;12063025;11895784;11836173;11683883;10636863;10559984;10477767;10432444;10376802;9551996;9378973;9074508;8172650;7961800;7835083;7539755;2319135;1471258;12551845;10593874;9263011;21182206;23123429;20638362;20640790;21134381;17875758;18616755;19561535;19635790;19644143;19679010;19817952;19866343;19956559;20237496;20435366;20693316;21153349;21156171;21237436;21212793;23718062;22969159;21330473;21051931;18974118;21692849;21463115;22171799;21330325;21387169;21518472;21893160;20002855;21716207;21765022;21055809;21423200;21528155;21876768;22020217;21933861;22278094;21945028;22002134;22142305;22677461;22338471;22027397;23308177;22955446;22909798;23021410;22721814;22773691;20842205;21085635;22556157;22807456;22336563 952 H0Y950;P28907 AA417096;ABBA01032572;ABBA01032573;ABBA01032574;AC005798;AF001985;AK297592;AK303169;AK313268;AMYH01014021;AMYH01014022;AMYH01014023;AMYH01014024;AMYH01014025;BC007964;CD688069;CH471069;D84276;D84277;D84284;DQ091293;M34461;NM_001775 AAA68482;AAH07964;AAY99634;ABM84110;ABW03578;BAA18964;BAA18965;BAA18966;BAG36077;BAG59979;BAG64268;EAW92745;EAW92746;NP_001766;P28907 Hs.479214 1339600;1674071;1674073;1674904;1776628;1797366;1847350;1848604;2146484 AFM212YG7;CD38_2675;D4S2960;G33802;SHGC-16484;SHGC-31590;SHGC-50197;SHGC-59551;SHGC-67228 T10 ADP-ribosyl cyclase 1;ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase;CD38 antigen (p45);NAD(+) nucleosidase;OTTHUMP00000158633;OTTHUMP00000217743;cADPr hydrolase 1;cd38 antigen;cyclic ADP-ribose hydrolase 1 APPROVED protein-coding 1667 00116 107270 VALIDATED 619554 CD36 CD36 molecule (thrombospondin receptor) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 q11.2 80069459 80144262 + 80231504 80308593 + 70461;734720;734721;619666;1625347;1600629;68930;1580863;2307219;2307223;2307208;2307222;2307207;2307217;2307220;2307209;2307211;2307213;2307214;2307218;2300254;2307212;2307215;2307226;6480464;6893560;6893487;6893504;6893508;6893492;6893488;6893490;6893529;6893543;6893528;6893494;6893497;6893500;6893541;6893503;6893559;6893495;6893499;6893506;6893507;6893545;6893496;6893502;6893501;6893505;6893542;5490304;6893544;6484679;6893527;6893557;6893534;6893538;6893498;6893531;6893565;6907045;7240710 11889559;2316511;9040027;9916795;15334463;11950861;11175782;7544802;19147991;18305138;19189074;18723424;15231693;19439069;17551591;17127041;16911630;16838191;15221799;18587397;16952981;15737001;18288886;22128087;22718544;19064796;17572512;21803601;22470565;22327076;16741676;21216282;17003426;21765106;20435456;19788606;22648712;19117124;20037584;21412229;20134099;18322255;18067591;20950462;20855355;19264766;19606481;18483551;22615812;21255096;21195211;21718801;17367535;20056742;16197457;16014033;20360550;16563568;19342682 15242332;15167446;15132977;15064117;15059642;15050739;15048167;14729862;14719070;14702039;14699114;14684613;12971464;12968020;12947091;12801610;12732844;12716848;12716760;12690205;12679131;12664607;12618277;12606036;12598312;12576469;12516552;12506336;12496189;12479587;12477932;12376530;12224819;12169456;12164325;12105195;12031598;12023894;11872368;11867619;11834946;11718687;11714819;11686358;11668637;11602321;11377606;11238109;10890433;10772961;10772928;10487979;10391209;9568716;9555943;9334230;9171348;8798390;8696942;8561798;7693552;7686693;7682812;7533783;7521304;7505064;7503937;2473841;1384492;10772654;2468670;17416590;7518447;18029348;2468669;1715582;7693034;19489681;19413744;19403559;19369259;19185504;19175917;19156623;19144874;19136129;19116451;19088437;19065049;19055786;19016618;18981136;18844973;18827892;18671254;18660489;18582374;18558917;18550349;18514070;18497330;18462250;18458151;18441389;18353783;18299339;18285332;18263877;18053692;18035074;18000176;17924847;17905828;17900273;17888147;17854769;17710630;17673938;17619827;17581812;17573918;17496152;17440173;17412877;17380316;17346709;17311893;17084382;17071479;17067553;16908526;16887969;16880211;16870193;16670819;16670153;16645727;16622019;16556603;16515687;16453284;16344560;16299313;16276419;16263699;16219805;16099393;16037098;16002039;15979077;15978955;15933580;15915335;15897321;15860439;15780035;15735450;15677505;15671915;15489334;15478802;15342556;15339698;15282206;21454644;21462325;22795952;20946164;20408759;21383152;20637247;20935172;20966904;20966915;20629037;20664056;20684828;20113368;20023206;20414830;17716309;19190027;19203752;19350111;19454037;19578796;19640849;19667111;19718657;19740737;19864601;19865095;19876004;19893500;19948975;19996318;20075072;20139232;20157514;20223461;20416077;20459687;8467233;20408954;19913121;20333725;20485444;20628086;20660057;20722468;20701912;20939828;21228269;21270117;22653277;21091228;21203512;21390226;21437286;21346626;21378271;20947105;21250778;21478428;21262584;21808142;21835916;22869067;22909232;23603908;21547502;20015873;21854984;22050542;21727988;21890620;21696539;22240721;23213279;21949655;22247259;22106368;22423221;22430143;22047506;22075538;22113854;22275803;21155254;21832049;23427331;21145461;22588808;22890011;23206327;23233532;21988832;23119050;22763563;23249574;22558273;22687273;22993001 948 A4D1B1;D9IX66;D9IX68;D9IX69;E7ERZ9;E7EU05;E7EVU1;E7EWI4;E7EX47;E9PC45;E9PJX8;E9PLT1;H0YEE7;Q9BZN4 AA846141;AACC02000015;ABBA01058054;ABBA01058055;ABBA01058056;AC073182;AC073850;AC124834;AF300625;AF300626;AF300627;AF300628;AF300629;AF300630;AF300631;AF300632;AF300633;AF300634;AF300635;AF300636;AF300637;AF300638;AF300639;AF300640;AK057690;AK096858;AK129899;AK300101;AK312920;AL596924;AMYH01017645;AY095373;BC008406;BP258762;BP259746;CH236949;CH471091;CR749465;DA566475;DA857400;DC338512;HC025784;HM217020;HM217021;HM217022;HM217023;HM217024;HM217025;HM217026;L06849;L06850;M24795;M98398;M98399;NG_008192;NM_000072;NM_001001547;NM_001001548;NM_001127443;NM_001127444;S60720;S67044;S67532;Z22924;Z32770 AAA16068;AAA35534;AAA58412;AAA58413;AAB28992;AAB46390;AAD13993;AAD14933;AAG60624;AAG60625;AAG60626;AAG60627;AAG60628;AAG60629;AAG60630;AAG60631;AAG60632;AAG60633;AAG60634;AAG60635;AAG60636;AAG60637;AAG60638;AAG60639;AAH08406;AAM14636;ABM83988;ABM87313;ADI80540;ADI80541;ADI80542;ADI80543;ADI80544;ADI80545;ADI80546;BAG35765;BAG53380;BAH13209;CAA80504;CAA83662;CBH19823;EAL24191;EAW76996;EAW76997;EAW76998;EAW76999;EAW77000;EAW77001;EAW77002;EAW77003;EAW77004;EAW77005;NP_000063;NP_001001547;NP_001001548;NP_001120915;NP_001120916;P16671 Hs.120949 1657244;1678015;1684461;1684616;1701608;1726447;1742879;1752515;2136266;2136985;2142754;2149138;2158440;2170412;2176525;2177522;2179521;2182921;5021872;5022578;5109663 CD36;D1S1423;D7S2067E;D7S2791;D7S2891;G62603;GDB:212872;GDB:3755118;RH104443;RH36282;RH48982;RH69590;RH70387;RH93476;RH94289;SHGC-106381;SHGC-58145;STS-T89178;STS-W90039;WI-16804;sY3084 BDPLT10;CHDS7;FAT;GP3B;GP4;GPIV;PASIV;SCARB3 CD36 antigen (collagen type I receptor, thrombospondin receptor);GPIIIB;OTTHUMP00000207872;OTTHUMP00000207874;OTTHUMP00000207879;OTTHUMP00000207881;OTTHUMP00000207938;OTTHUMP00000229733;PAS IV;PAS-4 protein;cluster determinant 36;fatty acid translocase;glycoprotein IIIb;leukocyte differentiation antigen CD36;platelet glycoprotein 4;platelet glycoprotein IV;scavenger receptor class B, member 3 APPROVED protein-coding ENSG00000135218 1663 01430 173510;608404;610938;611162 REVIEWED 1319442 CD3E CD3e molecule, epsilon (CD3-TCR complex) The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008] 11 11 q23 117680662 117692100 + 118175295 118186890 + 1580863;2314179;6480464;6484113;6907045;7240710 16628253 12110186;11186279;9485181;9886373;1370449;8530500;12567487;8490660;11390434;11048639;11827988;15489916;17652306;18667496;18555270;18504423;17668204;17630354;17507663;17176095;17023417;16412509;16308105;16094384;15592455;15546002;15534202;15489334;15342556;15144186;14757743;14523017;12812314;12734335;12626537;12522270;12499387;12477932;12410792;11855827;11689561;11439187;11115514;10722370;10373416;9780176;9743208;9698567;9687533;9582308;9510190;9378960;9312149;9120393;9045614;8920877;8809126;8626450;8366117;7761456;7699329;7541024;7517794;7514106;7500045;7499176;3478717;3267235;3012357;2859526;2138083;2111780;1671006;1387664;1385321;1832084;7774645;8145026;8125527;7506554;1979339;17001685;9263011;7539755;16777597;11349123;16461343;19616027;19724882;20237496;20478055;8176201;19190244;19913121;20628086;23166358;21203507;21669053;21669059;21980389;22401598;15123239;23216707;17632570;17928336;18473783;18541215;18555888;18808677;19726522;19759518;20012528;20179761;20594957;20824090;22505724;22911005;17213291 916 E9PSH8;P07766 ABBA01039714;AK292612;AK301255;AK311641;AMYH01004067;AP001582;BC049847;BI910359;BP366535;CH471065;M23323;NG_007383;NM_000733;X03884 AAA52295;AAH49847;BAF85301;BAG62822;CAA27516;EAW67360;EAW67361;EAW67362;EAW67363;EAW67364;NP_000724;P07766 Hs.3003 1773556;2185099 D11S4380;RH18074 FLJ18683;T3E;TCRE CD3-epsilon;CD3e antigen, epsilon polypeptide (TiT3 complex);OTTHUMP00000234559;OTTHUMP00000234560;T-cell antigen receptor complex, epsilon subunit of T3;T-cell surface antigen T3/Leu-4 epsilon chain;T-cell surface glycoprotein CD3 epsilon chain APPROVED protein-coding ENSG00000198851 1674 08923 186830;608971 REVIEWED 736987 CD3D CD3d molecule, delta (CD3-TCR complex) The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009] 11 11 q23 117714999 117718669 - 118209789 118213459 - 1580863;6480464;6484113;6907045;7240710 9485181;1831653;11048639;11827988;15489916;17652306;19222422;19056690;18803280;17923503;17176095;17023417;16888097;16412509;16094384;15778375;15592455;15546002;15489334;15144186;15028279;14602880;12522270;12477932;12410792;12215456;10722370;9743208;9582308;9510190;9045614;8809126;8621641;8278814;8020575;7719941;7517794;7495730;6095101;3488209;3478717;2939461;2859526;2826124;2540970;2138083;2111780;1826255;1385321;1372642;1832084;7774645;8145026;8125527;7506554;1979339;17001685;9263011;7539755;16777597;15534202;12604782;17502376;2017177;20660709;17872946;19724882;20237496;20478055;8176201;16407162;20511557;15331598;21670311;21984702;16822850;21669053;21669059;21926461;19942855;22401598;23336327;17632570;17928336;18473783;18541215;18808677;19726522;19759518;20012528;20179761;20594957;20824090;22103833;22505724;22911005 915 B0YIY4;E9PMT5;H0YE18;P04234 ABBA01039712;AK311971;AMYH01004068;AP001582;BC039035;BC070321;CD014058;CH471065;EF444964;JN392069;M12727;NG_009891;NM_000732;NM_001040651;X01451;X03934 AAA51792;AAH39035;AAH70321;ACA05962;AEQ93556;BAG34910;CAA25683;CAA27573;EAW67365;EAW67366;NP_000723;NP_001035741;P04234 Hs.504048 1741253;2173268;5124448;7187909 CD3D;GDB:179879;RH93888 CD3-DELTA;T3D CD3 antigen, delta subunit;CD3 delta;CD3d antigen, delta polypeptide (TiT3 complex);OKT3, delta chain;OTTHUMP00000234561;OTTHUMP00000234562;OTTHUMP00000234563;OTTHUMP00000234564;T-cell receptor T3 delta chain;T-cell surface glycoprotein CD3 delta chain;cd3 antigen delta polypeptide APPROVED protein-coding ENSG00000167286 1673 01730 186790;608971 REVIEWED 1317072 CD3G CD3g molecule, gamma (CD3-TCR complex) The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008] 11 11 q23 117720311 117729261 + 118215059 118224497 + 1580863;6480464;6484113;6907045;7240710 11186279;9485181;12794121;12407027;11048639;11827988;15489916;17652306;19056690;18815285;17923503;17822534;17176095;17023417;16916653;16888097;16344560;16094384;15879122;15778375;15489334;15459203;12477932;12410792;12374807;10722370;9743208;9510190;9045614;8809126;8636209;8125298;7533164;7517794;3478717;3112151;2944745;2826124;2547833;2540970;2138083;2111780;1826255;1709425;1635567;1535555;1387664;1385321;1832084;2139676;7774645;8145026;8125527;7506554;1979339;17001685;9263011;7539755;16777597;15638726;11298321;9582308;22731821;20511557;20660709;19536290;19724882;19860678;19898481;20237496;20478055;23336327;21670311;21984702;21669053;21669059;21764047;16888650;22401598;22482414;23348211;17632570;17928336;18051367;18473783;18541215;18808677;19726522;19759518;20012528;20179761;20594957;20824090;22505724;22911005 917 A8MUH3;B0YIY5;J3KNA5;P09693 AB583162;ABBA01039712;AK223314;AK310578;AK310622;AK313966;AK315895;AMYH01004068;AP001582;BC069685;BC113830;CH471065;DB116263;DC378393;EF444965;NG_007566;NM_000073;X04145;X06026 AAI13831;ACA05963;BAD97034;BAF98786;BAG36681;BAJ16153;CAA27764;CAA29428;EAW67368;NP_000064;P09693 Hs.2259 1742557;5016851;5037552;5106272;5109281 D11S4362;D1S1425;D8S2279;GDB:197879;RH80031 CD3-GAMMA;FLJ17620;FLJ17664;FLJ79544;FLJ94613;MGC138597;T3G CD3g antigen, gamma polypeptide (TiT3 complex);CD3g molecule, epsilon (CD3-TCR complex);OTTHUMP00000234565;T-cell antigen receptor complex, gamma subunit of T3;T-cell receptor T3 gamma chain;T-cell surface glycoprotein CD3 gamma chain APPROVED protein-coding 1675 07037 186740 REVIEWED 1606023 CD3EAP CD3e molecule, epsilon associated protein 19 19 q13.3 50601307 50605864 + 45909467 45914024 + 6480464 9426281;10373416;19396015;19257887;18289367;17131345;16964243;16817948;16809778;16806233;16690207;15936590;15489334;15302935;15226435;14743216;12477932;19692168;19734419;19773279;21046104;19214185;23145133;22751105;23624123;22939629;18029348;17620599;22335888;19471022;21693764;21884979 10849 K7EMH2;K7EQC8;O15446 ABBA01040926;AC092309;AF017633;AK292183;AMYH01009851;BC009705;BC028109;BC038992;BC046141;BC054044;BC065251;BC108889;CH471126;NG_015839;NM_012099;U86751 AAB68608;AAD41158;AAH09705;AAH38992;AAH46141;AAH54044;AAI08890;ABZ92467;BAF84872;EAW57346;EAW57347;NP_036231;O15446 Hs.710495 1741675;2180884;5014051;5015861;5022576;5037552;5109281;7185938 D10S16;D1S1361;D1S1425;D8S2278;D8S2279;GDB:181915;STS-R48186 ASE-1;ASE1;CAST;MGC118851;PAF49 A34.5;CD3 epsilon associated protein;CD3-epsilon-associated protein;CD3E-associated protein;CD3e antigen, epsilon polypeptide associated protein;DNA-directed RNA polymerase I subunit RPA34;RNA polymerase I-associated factor PAF49;antisense to ERCC 1;antisense to ERCC-1 protein protein-coding ENSG00000117877 24219 00125 107325 VALIDATED 1349824 CD46P1 CD46 molecule, complement regulatory protein pseudogene 1 1 1 1 q32 181048916 181061150 + 207825892 207826080 + 207818429 207830664 + 1740338 4182 ABBA01048243;AL137789;AMYH01001690;M73721;M73722;M73723;NG_008252 1695780;1770475;2152479 SHGC-53730;SHGC-76279;SHGC-82542 CD46P;MCPL;MCPL1 APPROVED pseudo 6959 INFERRED 735603 CD4 CD4 molecule This gene encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010] 12 12 p13.31 6768912 6800237 + 6898638 6929976 + 1580863;6480464;6484113;6907045;7240710 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920 B0AZV7;B4DT49;F5GYA9;F5H480;P01730 ABBA01017655;ABBA01017656;ABBA01017657;ABBA01017658;ABBA01017659;AC125494;AK300052;AK303968;AK308344;AK310652;AK310677;AK310687;AK310750;AK311495;AK312828;AK315898;AK316461;AK316462;AMYH01004208;BC025782;BT019791;BT019811;BX378810;CA305950;CH471116;DA384217;DA463597;DA619688;DA639898;DB123455;DQ012936;M12807;M35160;NG_027688;NM_000616;NM_001195014;NM_001195015;NM_001195016;NM_001195017;S79267;U40625;U47924;X87579 AAA16069;AAA35572;AAB02789;AAB35273;AAB51309;AAH25782;AAV38594;AAV38614;AAY22175;ABM82978;ABM86172;BAF98789;BAG35684;BAG61861;BAG64892;BAH14832;BAH14833;CAA60883;EAW88738;EAW88739;NP_000607;NP_001181943;NP_001181944;NP_001181945;NP_001181946;P01730 Hs.631659 1334972;1741339;1742287;1742863;1743991;1766911;1792606;1795520;2125009;2176194;5016478;5020274;5022200;5022578;5022651;5109281;5117863;5117865 A007D38;CD4_1639;D11S2921;D12S1623;D1S1423;D1S1425;GDB:180736;GDB:195161;GDB:212646;GDB:384737;GDB:434012;GDB:625824;GDB:625827;L18426;L18441;PMC155019P1;SHGC-12737;SHGC-152382 CD4mut CD4 antigen (p55);CD4 receptor;OTTHUMP00000238897;T-cell surface antigen T4/Leu-3;T-cell surface glycoprotein CD4;cd4 antigen APPROVED protein-coding ENSG00000010610 1678 01740 186940;613949 REVIEWED 1604657 CD40 CD40 molecule, TNF receptor superfamily member 5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be essential in mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 20 20 q12-q13.2 44180313 44191791 + 44746906 44758384 + 4892277;5132271;5132272;5132270;5132273;4144188;5132268;5132274;5132269;5490522;5490530;5490534;5490302;5490303;5490305;5490532;5490975;5490544;5508169;5490974;5490300;5490971;5490590;5508171;5491181;2313422;5490524;5491180;1599479;5490968;5490533;5490972;5490304;5490523;5490541;5490543;5490977;5490301;5490306;6480464;6907045;7240710;7248435;7248441;7248442;7248724;7248754;7248709;7248749;7248723;7248438;7248440;7248710;6893375;7248418;7248721;7248735;7248753;7248436;7248425;7248429;7248419;7248599;7248755 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21866398;22722990;22904686;12223522;8605945;2475341;9468137;12761501;10748139;16893496;19494299;19422822;19421221;19419774;19397878;19336218;19272596;19268365;19258923;19246174;19180477;19171874;19118532;19110536;19099972;19023113;19018001;19002156;18996438;18849075;18835787;18796631;18794853;18755875;18713981;18705404;18694960;18676680;18669876;18636124;18606651;18603231;18593367;18591382;18552209;18548529;18487509;18446002;18445342;18437082;18289643;18287517;18253927;18217399;18159101;18097708;18064390;18037736;17999420;17989345;17967972;17949264;17925605;17904146;17805323;17786592;17721998;17703412;17678876;17599408;17553307;17534894;17459878;17446175;17376892;17344890;17319699;17302995;17255560;17237417;17237414;17202327;17199090;17154264;17077013;17043147;17026470;17012138;16964404;16936191;16901543;16864989;16806233;16756465;16644731;16504636;16429118;16357329;16356539;16356505;16341674;16279844;16260598;16246299;16221206;16213477;16149136;16142355;16127217;16091748;16033859;15994291;15883744;15838273;15817705;15808676;15795333;15753667;15708600;15690148;15670770;15634933;15578091;15489334;15375484;15367912;15340161;15339846;15331443;15307939;15301860;15291139;15290728;15272925;15187129;15153777;15113760;15102691;15078922;15069543;15001471;14991615;14976003;14764664;14747545;14742996;14699489;14695541;14687897;14665433;14651941;14644094;14633128;14617752;14612943;14611700;14568936;14557256;14517219;14515262;12905492;12893749;12874247;12857749;12855571;12829914;12810728;12799532;12778475;12764232;12686591;12676820;12672076;12637493;12626576;12624779;12604404;12593727;12584544;12576441;12576427;12510151;12507785;12488500;12477932;12460235;12437073;12433678;12356871;12324477;12220533;12209092;12209089;12207328;12165546;12149421;12122011;12093796;12089335;12070030;12039918;12011072;12005438;11997318;11981834;11891278;11877469;11876766;11870634;11867568;11830590;11830495;11826760;11817328;11792123;11780052;11751974;11751963;11714804;11714772;11676606;11562359;11268217;11172023;11160013;11129651;11042507;10984535;10764746;10741409;10647992;10601289;10600748;10514012;10411888;10395671;10092834;10075662;9990007;9933087;9718306;9671306;9642260;9624004;9605317;9511754;9432981;9144479;9133417;9050882;9037712;8790348;8562382;8125298;7687385;7544915;7543281;7538666;7533327;7530216;7527023;7522634;7518550;7516669;7516405;3487090;2998589;1701063;15749123;11087201;7541827;15611322;9020361;9384571;8906799;17353931;10847592;10352240;20453842;22532139;22429276;21200133;12140561;17225862;17687557;17884785;18495129;19170196;19183933;19448410;19475450;19479954;19525955;19573080;19592656;19622350;19625176;19644859;19674979;19692168;19735272;19751723;19773279;19834879;19889024;19906293;19911254;19948975;20049410;20058617;20067533;20081875;20118277;20137882;20219786;20233754;20237496;20303602;20368992;20416077;20439292;20444755;20503287;20504251;19435719;20593977;21071692;20371189;20107176;21041727;20127135;19913121;20552594;20577873;20628086;20650312;20682661;20726323;20568250;20716621;20797713;21054240;12885753;20634492;20702779;21138731;19221099;21282461;21383499;19086656;21285457;22863718;23334419;23463508;20842056;21103345;21337550;19593445;22851860;23002440;23092922;21223957;19667091;9168896;21415255;21741080;21832282;22965071;23509150;23824909;21403646;22087016;21567389;21912605;21976957;20467921;22706687;22731751;23000501;23419881;22783574;22219050;22335531;22406982;22010829;21999662;22445357;22552529;22564607;22564647;22077624;11279055;21813202;22058328;22142817;22190364;22295117;22310643;22446961;22446962;22302395;22461623;22547704;17878343;20614026;21833088;7859281;20676093;22814930;23166616;23528588;23528589;23128233;22687258;23257401;17312171;17918746;19275586;19458171;20012522;20449947;21239998;21922073;22558273;22888137;22820189;22952582;15485634;22645426;22505696 958 H0YE23;P25942 AB209660;ABBA01052674;AJ300189;AK222896;AL035662;AMYH01011940;AMYH01011941;AY225405;AY504960;BC012419;BC064518;BM761221;BT019901;CH471077;CS095651;CS095653;CS097318;CS097320;CS097717;CS097719;CS103051;CS103053;CS362569;CS362571;CS415595;CS415597;CS415607;CS415609;CS458150;CS458152;CS458177;CS458179;EF064754;FB293281;FB293283;GM980682;GM980684;HB386506;HB386508;HC324854;HC324856;HC728083;HH930542;HH930544;HI594042;HI594044;HI594054;HI594056;HI651118;HI651120;HI921882;HI921884;JA086558;JA086560;NG_007279;NM_001250;NM_152854 AAH12419;AAH64518;AAO43990;AAR84238;AAV38704;ABK41937;ABM82730;ABM85914;BAD92897;BAD96616;CAC29424;CAJ00027;CAJ00028;CAJ00033;CAJ00034;CAJ00124;CAJ00125;CAJ00728;CAJ00729;CAL31951;CAL31952;CAL47757;CAL47758;CAL47760;CAL47761;CAL99221;CAL99222;CAL99226;CAL99227;CAQ64629;CAQ64630;CAX20923;CAX20924;CAZ64457;CAZ64458;CBJ55369;CBJ55370;CBL93995;CBX32768;CBX32769;CBX55113;CBX55114;CBX55116;CBX55117;CBX89251;CBX89252;CBY65289;CBY65290;CCA63957;CCA63958;EAW75757;EAW75758;EAW75759;EAW75760;EAW75761;EAW75762;EAW75763;NP_001241;NP_690593;P25942 Hs.472860 1299905;1688578;1793690;1794836;1794838;1794840;1794842;1794844;1794846;1794848;1794850;1794852;1794854;2129364;5017977 CD40_s5;D19S247;PMC259134P3;PMC60102P1;PMC60102P10;PMC60102P11;PMC60102P2;PMC60102P3;PMC60102P4;PMC60102P5;PMC60102P6;PMC60102P7;PMC60102P9;RH93708;STS-R49884 Bp50;CDW40;MGC9013;TNFRSF5;p50 B cell surface antigen CD40;B cell-associated molecule;B-cell surface antigen CD40;CD40 antigen (TNF receptor superfamily member 5);CD40 type II isoform;CD40L receptor;OTTHUMP00000031699;OTTHUMP00000031700;OTTHUMP00000031701;nerve growth factor receptor-related B-lymphocyte activation molecule;tumor necrosis factor receptor superfamily member 5;tumor necrosis factor receptor superfamily, member 5 APPROVED protein-coding ENSG00000101017 11919 00178 109535;606843 REVIEWED 1352959 CD40LG CD40 ligand The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008] X X q26 135558002 135570215 + 135730336 135742549 + 1599480;2314209;2314214;2314219;2314220;2314212;2314208;2314211;2314188;2314223;5490978;5491182;5490522;5490531;5490973;5508170;5508171;5490970;5491179;5490592;5490598;5490591;5490596;5490529;5490547;4891397;5490594;5490593;5490597;5490305;5024938;5490298;5490548;5491181;5490595;5490306;2313413;2313422;6480464;6484113;6907045;7240710;7248426;7248421;7248422;7248722;7248439;7248719;7248601;7248714;7248750;7248598;7248438;7248420;7248443;7248720;7248430;7248713;7248436;7248437;7248600;7248428;7248433;7248599;7248423;7248427 7678782;17635572;16423632;15716285;15448088;16505242;18756582;16752185;15817881;14963650;20378141;16611325;21914625;20659085;20490890;15458437;12388354;20660932;19035311;21817098;21177803;20006362;21411717;20705757;20348957;20400704;21485068;21543760;21331754;21240009;20618701;21841160;20170788;17188497;21414847;21211656;19016771;16716410;20726330;21817131;19889873;21303961;15693003;10949194;12969144;11751940;23819214;15016184;15780086;22948742;15102009;7564113;17911451;12244161;16494885;16361570;13130474;18787388;17314326;14569091;19784793;19019166 20981468;22024720;21406105;22984080;17319699;17237447;17237414;17106168;17103120;16987056;16963006;16936191;16888032;16797372;16780932;16777115;16741250;16570157;16545138;16504636;16498500;16464740;16396693;16393964;16380494;16378074;16311023;16221206;16186418;16182391;16149136;16014560;15872081;15868137;15808676;15795254;15753667;15741223;15674425;15489334;15345520;15315967;15307939;15302794;15277394;15249506;15191945;15153777;15128830;15115688;15111558;15069543;15067037;14991615;14976003;14962968;14764664;14760083;14742996;14734771;14687897;14662879;14623801;14617752;14611725;12955358;12952351;12874247;12764232;12742991;12738634;12718765;12707303;12699408;12695287;12676191;12672403;12626576;12605316;12592374;12574344;12563087;12509450;12477932;12460235;12427285;12423681;12379582;12352896;12223522;12209602;12207328;12192302;12140747;12117990;12117904;12042657;12011072;11986259;11981870;11978801;11964311;11922919;11918631;11902332;11902141;11891278;11875495;11865444;11826760;11818376;11817328;11816717;11801691;11801648;11792121;11751888;11714772;11676606;11525169;11493450;11358428;11297035;11270473;11123305;11042507;10647992;10510350;9873085;9746782;9605317;9150729;8907262;8889581;8626375;8589998;8550833;8094231;7999797;7907793;7717401;7688562;7679801;7679206;7586644;7543281;7537298;7532185;7516405;1427881;1385114;1281209;1280226;14764743;12960257;7541827;16429138;18641297;10085035;9468137;8605945;12697681;9922218;7678552;16893496;12646674;19541004;19494299;19470255;19422822;19421221;19318922;19282610;19272596;19258923;19232335;19170966;19120902;19101003;19056482;19023113;18946203;18945879;18849075;18835787;18827186;18812691;18714535;18713981;18661398;18658029;18652769;18641098;18603231;18593367;18554599;18548529;18481160;18373164;18349125;18349065;18339317;18281372;18260168;18217399;18196935;18180380;18156495;18093816;18081708;18054068;18051214;17947713;17917707;17901373;17893433;17879023;17845713;17805323;17716773;17703412;17675236;17619839;17562816;17469136;17459878;17433826;17414714;17403203;17392362;17372166;17360404;22492089;22532139;22750225;21162213;19404646;20471683;20505142;20505144;20980002;20133813;20230421;20811042;20811715;21071692;20153702;19913121;20485444;20577873;20628086;20107176;20881665;20980629;17225862;17884785;18719603;19201484;19520616;19564823;19575287;19590499;19656553;19675172;19707993;19723899;19735272;19755790;19811271;19859091;19889024;19895673;19896127;19906505;19948975;20008286;20026377;20039299;20048211;20071030;20174757;20211016;20459687;20503287;17207965;20456428;20676835;20734064;12885753;20301576;20634492;21138731;19086656;21075431;21285457;20701912;20832064;20846521;21242519;21337550;19221099;20978895;21143381;23325890;22905203;22932804;20457264;21415255;21605114;22608210;22965071;21696538;21898485;21967264;21567389;21151195;22151659;22234746;22295117;22440854;22702645;22731751;23000501;22219050;19184537;22058328;22116092;21491121;22231486;22512415;22552529;21616491;22150414;20629665;22298164;21788945;22139839;22100896;22196954;22193914;22461623;22593611;22802415;23241952;23289765;23479226;23002440;22689014;17312171;17918746;19449444;19859083;20380698;20535218;21239998;21357544;22889643;22820189;23039889 959 P29965;Q3L8U2 ABBA01055928;ABBA01055929;AF529195;AK292637;AL135783;AMYH01023049;AMYH01023050;AY197739;BC071754;BC074950;CH471150;CQ859998;CS398757;CS458154;CS458181;D31797;D50607;DQ119668;EF064753;FN298241;GN344043;HI658768;L07414;NG_007280;NM_000074;X67878;X68550;X96710;Z15017 AAA35662;AAH71754;AAH74950;AAP37943;AAQ09090;AAZ23548;ABK41936;ADQ32018;BAA06599;BAF85326;CAA48077;CAA48554;CAA78737;CAH25976;CAL44882;CAL99223;CAL99228;CAX65629;CAY55957;CBY45341;EAW88462;EAW88463;NP_000065;P29965 Hs.592244 1701736;1702908;1728931;1743497;1743499;1743501;1743503;1743505;1793688;1794948;1796984;2127633;2140476;2159326;5022808;5120490 CD40LG;Camk2g;DXS1256;DXS8200;G10615;GDB:204469;GDB:340965;GDB:340969;GDB:340972;GDB:340979;GDB:340983;GDB:340987;PMC259134P1;PMC86001P3;RH17600;TNFSF5_272 CD154;CD40L;HIGM1;IGM;IMD3;T-BAM;TNFSF5;TRAP;gp39;hCD40L CD40 antigen ligand;CD40 ligand;CD40-L;OTTHUMP00000024130;OTTHUMP00000024131;T-B cell-activating molecule;T-cell antigen Gp39;TNF-related activation protein;tumor necrosis factor (ligand) superfamily member 5 APPROVED protein-coding ENSG00000102245 11935 02311 300386;308230 REVIEWED 1352782 CD48 CD48 molecule This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 q21.3-q22 158915160 158948209 - 160648536 160681641 - 1580863;6480464 12356317;2828034;1693656;11313396;19494291;18617371;17599905;17222190;16866884;16803907;16785501;16710414;16585556;16081768;15760905;15489334;15356144;12496412;12477932;12072193;12007789;11313125;11163399;10359122;9834056;9418191;8650218;8125298;8104794;1999351;1999350;1847502;1827826;16169070;16049493;20164429;20237496;20453000;18296487;19913121;20628086;20833258;11513145;22495247;23225218;23128233 962 P09326;Q8MGR0 ABBA01016611;ABBA01016612;AK225636;AK310624;AK310744;AL121985;AMYH01001453;BC016182;BC030224;BG505217;BT019813;CH471121;CR457012;M37766;M59904;M63911;NM_001256030;NM_001778;X06341 AAA35602;AAA36211;AAA62834;AAH16182;AAH30224;AAV38616;ABM87315;ABW03873;CAA29647;CAG33293;EAW52705;NP_001242959;NP_001769;P09326 Hs.243564 1846795;2106977;2130891 CD48_3159.2;D1S2413;RH45550 BCM1;BLAST;BLAST1;MEM-102;SLAMF2;hCD48;mCD48 B-lymphocyte activation marker BLAST-1;BCM1 surface antigen;CD48 antigen;OTTHUMP00000025680;SLAM family member 2;TCT.1;leukocyte antigen MEM-102;signaling lymphocytic activation molecule 2 APPROVED protein-coding ENSG00000117091 1683 00177 109530 REVIEWED 737350 CD47 CD47 molecule This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 q13.1-q13.2 109244631 109292625 - 107761941 107809935 - 1580863;6480464;6907045 22451913;15383453;15700281;8294396;7998989;16691243;10429193;19632178;19144568;18979398;18954403;18855618;18675774;18657508;18524990;18523271;18497546;18332220;18186923;17572512;17363705;17360380;17098740;16951312;16697668;16581280;16291597;15917238;15880429;15842360;15725479;15498560;15489334;15359629;15292185;14966135;14759258;14747477;14702039;14551146;12902472;12736272;12690108;12646616;12609828;12477932;12393467;12393442;12370491;12351399;12218055;12176912;11980922;11907074;11509594;11454874;11331301;11306274;10549293;10545994;10397731;10037797;9872987;9169439;8563755;8550562;7691831;2277087;19322201;22511785;1394148;22215724;22734047;20033473;10469599;20826801;20364320;20675593;22815286;20923780;19360900;19628875;19661269;19748659;19952055;20705613;20299253;22535707;22641236;22990013;21178137;21211546;21343308;21203512;19794081;23011546;22427202;22014686;21139048;21906983;22079249;19805454;23206327;23275336;22874555;22505724;22870271 961 H0YC40;H7BYS8;Q08722 ABBA01061707;AC012020;AF540016;AI701980;AK096670;AK124152;AK289813;AL832675;AMYH01013380;BC010016;BC012884;BC037306;BC042889;BC045593;BC053959;BI753986;BT006907;BX640889;CB995865;CH471052;NM_001777;NM_198793;X69398;Z25521 AAH10016;AAH12884;AAH37306;AAP35553;AAQ11189;ABM81682;ABM82737;ABM84846;BAF82502;CAA49196;CAA80977;EAW79732;EAW79733;EAW79734;NP_001768;NP_942088;Q08722 Hs.446414 1646572;1658358;1660149;1689508;1724143;1797368;1847659;2114317;2130574;2132545;2135056;2143414;2143416;2170203;5014051;5037552;5126270 CD47_2027;D3S3910;D3S4195;D3S4214;D8S2278;D8S2279;RH121206;RH78419;RH78668;RH94184;SHGC-12537;SHGC-77177;SHGC-77187;SHGC-77188;SHGC-77192;STS-X69398;STS-Z25521 IAP;MER6;OA3 CD47 antigen (Rh-related antigen, integrin-associated signal transducer);CD47 glycoprotein;OTTHUMP00000041152;OTTHUMP00000041153;Rh-related antigen;antigen identified by monoclonal antibody 1D8;antigenic surface determinant protein OA3;integrin associated protein;integrin-associated protein;integrin-associated signal transducer;leukocyte surface antigen CD47 APPROVED protein-coding ENSG00000196776 1682 03017 601028 REVIEWED 1351887 CD57 CD57 antigen 964 1687 1346662 CD46 CD46 molecule, complement regulatory protein The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] 1 1 q32 205992025 206035481 + 207925383 207968861 + 1580863;2293547;2306066;2306067;2293548;2306065;2293549;2293551;2293550;6480464;6483459;6483463;6483465;6483466;1600479;6483457;6483461;6483458;6483460;6483464;6483467;6907045;7240710 15378282;15726105;12183422;10637067;17214367;9358772;7532466;10744069;21445332;19456309;16948860;12869763;16425382;22247341;21852528;21573156;21177319;17594162;12055630 7884872;7708671;7691939;7534417;3260937;2298462;2050389;1953714;1717583;1601037;2521358;23086448;8402913;1711570;19457998;19344414;19198561;18842294;18684945;18677279;18658028;18598642;18573902;18524830;18514989;18287234;17947513;17914026;17715217;17617869;17599974;17560639;17467801;17412968;17261436;17116876;17015676;16888016;16735514;16710414;16690929;16621965;16386793;16344560;16254377;16253969;16087667;15919905;15845515;15845255;15808690;15784724;15592455;15489334;15385816;15336534;15308701;15307194;15307176;15151618;15121049;15078926;15047806;14962294;14962279;14712499;14708531;14615110;14597734;14566335;14566051;12958316;12915534;12724329;12663806;12540904;12477932;12171934;12112588;12082081;12055245;12050388;11983016;11971006;11901164;11858824;11844145;11739493;11714708;11260136;10972291;10843656;10751138;10741407;10657632;10619434;10357804;9759896;9661662;9659228;9551389;9379894;9185079;8764003;8418811;8371352;8125298;8026516;7929741;19396169;19423540;19597833;19737905;19784949;19837375;19845582;19861685;19878546;19957088;20018629;20057080;20059470;20106822;20237496;20406964;20438785;20513133;20925204;19662541;20638094;20800630;20865641;20843232;22171659;21283821;21450813;21545652;21840606;22293503;21858107;21987572;22357652;22544928;20972266;21617523;21890473;21906983;21706448;21934552;22086389;22153652;20301541;23251661;23326517;21963094;22594569;23000965;23049856;23391762;23235567;22761385;23042280;22053931;22505724 4179 Q92494;Q9NNW2;R4GN18 A18585;ABBA01048241;AF209712;AF209713;AF209714;AI589224;AK129560;AK222822;AK291227;AK296819;AL035209;AL365178;AMYH01001691;AU131238;AY916779;BC007046;BC026273;BC030594;BX537451;BX640613;BX649050;CH471100;D84105;DB078198;EF076055;EF076056;EF076057;EF076058;M58050;NG_009296;NM_002389;NM_153826;NM_172350;NM_172351;NM_172352;NM_172353;NM_172359;NM_172361;S51940;S65879;X59405;X59406;X59407;X59408;X59409;X59410;Y00651;Y07713 AAA62833;AAB24802;AAD13968;AAF73844;AAF73845;AAF73846;AAH30594;AAW82433;ABK81635;ABK81636;ABK81637;ABK81638;ABM81827;ABM84980;BAA12224;BAD96542;BAF83916;BAG59392;CAA01400;CAA68675;CAA68985;CAD97694;CAE45719;CAI45983;EAW93463;EAW93464;EAW93465;EAW93466;EAW93467;EAW93468;EAW93469;EAW93470;EAW93471;EAW93472;EAW93473;EAW93474;EAW93475;EAW93476;EAW93477;NP_002380;NP_722548;NP_758860;NP_758861;NP_758862;NP_758863;NP_758869;NP_758871;P15529 Hs.510402 1643954;1655051;1695780;1722271;1770475;1791430;1796314;2119968;2138430;2142635;2152479;2180809;5015869;5120289 D1S2240;D1S3213;D1S3297;G60046;GDB:231980;GDB:313261;MCP_1349;PMC109970P1;RH69587;SHGC-53730;SHGC-76274;SHGC-76279;SHGC-82542;WIAF-2149 AHUS2;MCP;MGC26544;MIC10;TLX;TRA2.10 CD46 antigen, complement regulatory protein;OTTHUMP00000034577;OTTHUMP00000034622;OTTHUMP00000034623;OTTHUMP00000034624;OTTHUMP00000034625;OTTHUMP00000034626;OTTHUMP00000034706;OTTHUMP00000034707;OTTHUMP00000216786;OTTHUMP00000216787;antigen identified by monoclonal antibody TRA-2-10;complement membrane cofactor protein;measles virus receptor;membrane cofactor protein;trophoblast leucocyte common antigen;trophoblast leukocyte common antigen;trophoblast-lymphocyte cross-reactive antigen APPROVED protein-coding ENSG00000117335 6953 00406 120920;612922 REVIEWED 737036 CD44 CD44 molecule (Indian blood group) The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008] 11 11 p13 35116993 35210525 + 35160417 35253949 + 2289349;2289353;2289371;2289388;2289345;2289347;2289350;2289351;2289352;2289356;2289357;2289358;2289361;2289362;2289364;2289369;2289372;2289373;2289346;2289354;2289359;2289360;2289363;2289370;2296043;2296044;4145437;6480464;6907045 17991717;16998464;16837837;8639178;18091389;18026989;17464868;17284111;17059779;16425351;16321281;16308159;12131349;11245336;18196276;16891795;16804311;16612977;18064740;16786159;16124061;12833185;10022688;16850024;15762960;14658589;12750406 20211062;20956971;21257828;19167378;18387829;9058761;22561518;2471973;1991450;1922057;18029348;16809613;19506034;19488035;19434087;19432801;19416960;19415765;19396460;19385591;19360323;19351367;19331807;19277703;19254252;19243022;19176383;21764578;22491449;22499789;19148550;19100415;19097357;19088176;19077409;19073595;19023892;19017937;19017033;19010227;19009655;19004834;18997126;18981124;18980968;18971959;18952835;18852874;18835619;18804988;18804101;18787423;18757307;18753140;18662989;18654930;18651220;18644869;18632604;18614011;18612220;18608209;18577517;18559090;18516325;18513329;18502153;18502033;18495204;18450824;18450428;18441325;18438684;18415803;18414895;21151997;21179550;16713680;16702221;16652145;16636662;16620830;16565092;16565089;16554035;16533775;16530165;16504370;16478744;16419149;16415175;16407205;16390331;16354706;16352650;16335952;16325770;16311123;16234326;16229685;16219515;16208414;16177123;16166750;16085055;16002044;15990174;15962382;15943035;15923644;15867228;15816636;15809746;15783086;15736104;15728517;15652352;15645378;15641486;15638386;15638368;15578568;15558018;15531362;15516973;15509527;15489334;15361838;15313120;15292257;15239258;15123640;15070674;15060082;15051494;15048167;15040016;15023889;15017146;15013310;15009704;14992719;14981907;14702039;14669354;14644158;14623895;14614016;14534719;14534711;14525786;14504094;12949055;12939665;12928429;12911725;12909589;12908752;12901833;12893366;12883358;12842543;12826680;12820426;12801931;12779084;12767055;12748184;12730955;12727228;12714503;12711360;12702150;12650924;12635659;12629514;12574156;12511867;12511569;12508241;12506143;12485845;12479099;18375392;18372518;18350162;18326820;18276068;18265895;18234849;18227732;18214619;18199543;18193058;18162778;18160820;18155656;18094716;18092951;18077444;18048043;18005092;17987038;17975002;17945213;17945212;17940137;17919613;17914409;17911438;17849363;17846873;17726647;17708612;17702746;17679465;17657222;17638891;17627000;17611662;17611661;17599831;17589956;17581168;17579117;17540049;17516109;17482182;17479111;17392272;17383158;17343740;17332338;17265493;17237445;17136494;17135256;17092940;17085435;17081983;16998484;16998483;16969488;16868940;16809345;12477932;12452061;12444143;12439723;12421945;12411303;12407110;12393872;12392323;12377945;12371152;12370738;12356905;12297287;12235127;12226094;12223485;12198147;12183053;12168806;12145287;12145196;12127836;12093135;12090473;12032545;11935029;11840273;11839564;11825898;11825873;11792412;11759056;11740562;11727257;11716065;11606575;11466334;11463356;11402070;11381077;11129651;11095749;11084024;10950950;10933060;10737800;10657301;10652271;10636882;9794764;9580567;9573028;9472040;9334256;8871928;8858161;8649806;8640758;8636151;8599448;8576267;8352881;8343954;8148709;7908632;7699015;8986622;7591309;7557500;7542116;7539755;7532176;7529574;7516819;7508842;7505012;7499241;2474557;2466576;2466575;2454887;2056274;2007624;1840487;1734871;1730778;1717145;1694723;1537855;1496383;1465456;1281868;17891137;15688033;16248506;16494036;20200161;20698358;21454519;21471434;20606732;20663884;11207560;15452148;17045821;18246799;18279620;18396641;19200980;19350388;19563418;19580891;19582779;19598259;19626493;19633292;19635906;19638429;19703720;19724852;19764564;19773544;19787202;19787231;19794958;19794964;19799609;19816074;19826051;19857547;19912362;19914206;19937401;19952968;19955840;19965872;19996285;20019840;20042890;20083228;20093404;20093489;20098615;20127679;20142144;20178130;20193563;20212041;20237496;20306693;20382854;20403620;20530438;20525896;20799279;20361869;19906290;20157733;20357818;20374021;20121756;20588206;20663864;20199686;20228222;20562647;19913121;20454640;20606680;20628086;20628624;20806065;20819778;20851866;20843027;20552237;20605145;20969572;20974992;21055388;15851553;19141242;20670691;20696077;21194677;20856229;20491779;20837694;21087933;21098716;20971508;21376257;21411116;19794081;21471214;21482826;18476625;18476632;19621595;16848180;21258793;21215700;21124918;21393860;21078678;21136024;21257905;20526812;21299347;21356346;19698232;21630198;22068886;22449225;22525501;22673507;21397861;20920234;22610780;22753277;22770970;22836803;15655247;22270319;22863883;23118219;23160198;23002207;22637644;22740326;22939629;22947857;21294926;21473743;21493336;20962267;7821789;19047049;21278261;21279958;21708929;21331451;21570715;21768350;21489997;21374592;21768115;21804359;21813394;21632186;21254647;21701559;21618131;21618132;21633165;22278305;20416163;21105049;21617876;21731740;21829201;21824412;21827751;21849440;21743962;21833756;21912471;22125838;21680714;22389315;22610405;23547049;23589287;23589310;9519902;21424816;21645921;21649540;21694464;21802218;20405247;21953074;22901285;22932199;23039365;11944887;15100360;17170110;21678082;21987572;22213301;22014860;22322379;22072421;22321833;22335271;22386367;22673910;21749678;21819617;21957977;21139048;21685938;21906983;21935404;21993315;21830016;22021370;22069487;22119814;22152097;23263849;23609373;19322201;20809185;22234250;22433859;22456539;22493711;22514625;22552294;22552741;22559040;19577615;21546273;21718681;21835433;21895545;21898409;21935375;22024057;22048598;22076958;22130902;22135720;22205660;22216242;22242150;22266115;22271686;22272243;22293754;22437554;22237177;22307465;22363471;22804494;22969228;23098472;23112116;21933023;23049743;23031255;23089492;22654106;22711991;22843930;23220849;22218639;22429811;22839505;23071680;23326564;21963094;22304920;23000965;23056168;23221384;22740085;23273568;23400010;22895075;23342032;22972620;23419168;23445749;23645762;22621373;22922740;22923171;23182705;23170789;23226410;23252868;22119938;22733437;23435135;17381240;19275586;21668410;22784357;22807608;22847005;22865879;22870202;17324121;22923071;22966907;22967445;23028444;23151220;22726066 960 E7EPC6;E9PKC6;H0Y2P0;H0Y5E4;H0YCL4;H0YCV9;H0YD13;H0YD17;H0YD90;H0YDV8;H0YDW7;H0YDX6;H0YE40;H0YEA1;H0YES0;H0YEU1;H0YEV3;H0YF08;J3KN83;Q86UZ1;Q9UCB0 AB073901;ABBA01060862;AF086543;AF098641;AJ251595;AK123567;AK127622;AK129808;AK290424;AK297776;AK304467;AK307707;AL133330;AL136989;AL356215;AL832642;AMYH01003489;AY101192;AY101193;BC004372;BC052287;BC067348;BF828674;BF872530;BG946113;CD721908;CH471064;D28447;EF581837;FJ216964;HI519530;L05423;L05424;M24915;M25078;M59040;M83324;M83325;M83326;M83327;M83328;NG_008937;NM_000610;NM_001001389;NM_001001390;NM_001001391;NM_001001392;NM_001202555;NM_001202556;NM_001202557;S66400;S72928;S82326;U40373;W47313;X55150;X55938;X56794;X62739;X66733 AAA35674;AAA36138;AAA51950;AAA82949;AAB13622;AAB13623;AAB13624;AAB13625;AAB13626;AAB13627;AAB13628;AAB27917;AAB27918;AAB27919;AAB30429;AAC70782;AAD14389;AAH04372;AAH52287;AAH67348;AAM50040;AAM50041;ABQ59315;ACI46596;BAA05813;BAF83113;BAG60121;BAG65282;CAA38951;CAA39404;CAA40133;CAA44602;CAA47271;CAB61878;CAD89965;CBX54346;EAW68144;EAW68145;EAW68146;EAW68147;EAW68148;EAW68149;EAW68150;EAW68151;EAW68152;EAW68153;EAW68154;EAW68155;NP_000601;NP_001001389;NP_001001390;NP_001001391;NP_001001392;NP_001189484;NP_001189485;NP_001189486;P16070 Hs.502328 1648522;1666080;1670636;1693592;1699158;1725823;1727053;1737265;1741833;1770236;1791460;1793888;1795518;1851396;1856308;2116565;2131340;2143219;2150914;2185524;5014051;5037552;5120105 AFM283wh9;CD44;CD44_1447;D11S3129;D11S4430;D11S4589;D8S2278;D8S2279;G15910;G62000;G62926;GDB:185470;GDB:196637;PMC111028P1;PMC303366P9;RH103158;RH35975;RH36176;RH68898;RH69895;SHGC-58498;STS-H03494;STS-N23307 CDW44;CSPG8;ECMR-III;HCELL;HUTCH-I;IN;LHR;MC56;MDU2;MDU3;MGC10468;MIC4;MUTCH-I;Pgp1 CD44 antigen;GP90 lymphocyte homing/adhesion receptor;Hermes antigen;OTTHUMP00000041555;OTTHUMP00000041556;OTTHUMP00000041557;OTTHUMP00000041558;OTTHUMP00000041559;OTTHUMP00000232487;OTTHUMP00000232488;OTTHUMP00000232489;OTTHUMP00000232491;OTTHUMP00000232492;OTTHUMP00000232493;OTTHUMP00000232494;OTTHUMP00000232495;OTTHUMP00000232522;cell surface glycoprotein CD44;chondroitin sulfate proteoglycan 8;epican;extracellular matrix receptor III;hematopoietic cell E- and L-selectin ligand;heparan sulfate proteoglycan;homing function and Indian blood group system;hyaluronate receptor;phagocytic glycoprotein 1 APPROVED protein-coding ENSG00000026508 1681 00115 107269;609027 REVIEWED 1348187 CD52 CD52 molecule 1 1 p36 26516998 26519601 + 26644411 26647014 + 6480464 21552305;8223854;1711975;18647288;17624925;17428002;17145843;16797237;16796779;16266689;15489334;14662784;12477932;12113063;11860230;11257744;10561018;10524207;9361796;8977262;8418821;8418812;8366859;7890742;7718516;7688956;7685389;1352921;20349607;19794084;22386526;17118455;22491736 1043 P31358;Q9UJ81 A23013;ABBA01034904;AJ132359;AL451139;AMYH01000397;BC000644;BI835519;BT007116;CH471059;CR456874;NG_028986;NM_001803;X62466;X67699 AAH00644;AAP35780;ABM84634;CAA01644;CAA44323;CAA47929;CAB51285;CAG33155;EAX07822;NP_001794;P31358 Hs.276770 1725835;2146598;2166055 D1S3354;G62004;RH70873 CDW52 CAMPATH-1 antigen;CD52 antigen (CAMPATH-1 antigen);CDW52 antigen (CAMPATH-1 antigen);OTTHUMP00000003570;cambridge pathology 1 antigen;epididymal secretory protein E5;he5;human epididymis-specific protein 5 protein-coding ENSG00000169442 1804 00257 114280 VALIDATED 736702 CD5 CD5 molecule 11 11 q13 60626543 60651900 + 60869930 60895324 + 1580863;6480464 17585360;22395507;1711157;3093892;11390434;19573080;19141631;18641338;18572329;18556402;18339402;18006695;17878328;17513730;17325858;16923582;16344560;16107871;15998834;15981803;15843554;15549146;15489334;15187131;15144186;14603444;12707340;12522270;12477932;12473675;12447961;12393419;11869933;11861604;11751967;11298344;11123317;10510361;10082557;9862202;9834084;9692886;9603468;9378960;9079809;8806810;7539755;7513045;7512031;1385158;21833088;21892966;19758163;19773279;19901887;20568250;21048031;21123968;21395509;22732449;21398617;21757751;21539877;21436320;21786452;21926348;22278227;21835435;22406370;23128233;23376399;22333190;18555888;22904299 921 F5GYK3;P06127 ABBA01003190;ABBA01003191;AK292698;AMYH01003669;AP000437;AY541703;BC027901;CH471076;DB143341;EF064752;NM_014207;X04391;X89405 AAH27901;AAS55053;ABK41935;ABM83003;ABM86196;BAF85387;CAA27979;CAA61584;EAW73924;NP_055022;P06127 Hs.58685 1742503;1772695;1853302;1853465;2119946 CD5;D11S4363;GDB:197830;SHGC-58041;STS-X89405 LEU1;T1 CD5 antigen (p56-62);OTTHUMP00000236973;T-cell surface glycoprotein CD5;cd5 antigen;lymphocyte antigen T1/Leu-1 protein-coding ENSG00000110448 1685 01078 153340 VALIDATED 737207 CD53 CD53 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 p13 111215344 111244081 + 111413821 111442558 + 1580863;6480464 1346273;8404042;8436422;17210617;16710414;16506060;15489334;12725440;12631118;12606948;12477932;12392323;11959120;11739647;11443129;11157846;10529602;10229664;9862348;9470900;8816400;8757325;8335905;8319976;8307585;7963560;7621882;7539755;2258620;1879540;1700763;11325968;20237496;20407468;19913121;20628086;21993531;23251661;23313165 963 B4DQB5;P19397 ABBA01068394;AJ243474;AK298723;AK313582;AL354713;AL391064;AMYH01000945;BC035456;BC040693;BG536920;BT019643;CA453414;CH471122;L11670;L11671;M37033;M60871;NM_000560;NM_001040033 AAA35663;AAA51951;AAH40693;AAV38449;BAG36352;BAG60877;EAW56459;NP_000551;NP_001035122;P19397 Hs.443057 1339872;1688158;1697060;1768648;1771264;2108717;2174468;5119478 CD53_92.2;D1S2090;D1S2809;D1S3453;RH102009;RH67893;RH69138;SHGC-12404 MOX44;TSPAN25 CD53 glycoprotein;CD53 tetraspan antigen;OTTHUMP00000013686;antigen MOX44 identified by monoclonal antibody MRC-OX44;cell surface antigen;cell surface glycoprotein CD53;leukocyte surface antigen CD53;tetraspanin-25;transmembrane glycoprotein;tspan-25 APPROVED protein-coding ENSG00000143119 1686 01054 151525 REVIEWED 737499 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) This gene encodes a protein involved in the regulation of the complement cascade. The encoded glycoprotein is also known as the decay-accelerating factor (DAF); binding of DAF to complement proteins accelerates their decay, disrupting the cascade and preventing damage to host cells. Antigens present on the DAF glycoprotein constitute the Cromer blood group system (CROM). Two alternatively spliced transcripts encoding different proteins have been identified. The predominant transcript encodes a membrane-bound protein expressed on cells exposed to plasma component proteins but an alternatively spliced transcript produces a soluble protein present at much lower levels. Additional, alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 q32 205561488 205600470 + 207494817 207534311 + 1580863;2326181;2326170;2326179;2326180;2326167;2326173;2326175;2326168;2293549;2326166;6480464;6907045 10850450;15102687;12427125;10929073;18288643;11506079;20403613;16533428;9358772;18676748 8223854;2433596;11313396;19424617;19344414;19341386;18997004;18954403;18842294;18579524;18524812;18443552;18374870;18305044;18165780;18158579;17893077;17449467;17395591;17368771;17182573;17167176;16980062;16951684;16908271;16818763;16647457;16626483;16602701;16543227;16503113;16367924;16273233;16179371;16079188;15919505;15831949;15808692;15808686;15808683;15808680;15721309;15596863;15536079;15489334;15385816;15356143;15351205;15350460;15284224;15151618;15102803;15007307;15007304;14993659;14962294;14734808;14722298;14530374;14517339;12950987;12920584;12880676;12811528;12731067;12675719;12672958;12664211;12659837;12654791;12645951;12499389;12477932;12445304;12393518;12386146;12186929;12153048;12119400;12117960;11983016;11832343;11745332;11694537;10540231;9541601;9435343;9427725;9238658;9110174;9010927;8619474;7687624;7678074;7673728;7545711;7525274;7519480;7512501;2459267;2438369;2436222;2428813;1824699;1740338;1720702;1712233;1711208;1385527;1377029;1376264;8887350;7535292;15327779;20638094;20673868;16563273;19364072;19423540;19675582;19681921;19710132;19729796;19781296;19878546;20237496;20406964;20438785;20452482;19662541;20221634;20339853;20692039;20689133;20727519;22574734;22939629;23006730;22553215;21420451;21727667;21518786;21802665;21380985;21545652;22293503;22590509;22391577;15907827;22445689;22206234;22547928;22693232;23049856;23152895;21963094;23176121;20727121;22761385;22830021;22961402;23042280;23402020 1604 B1AP13;B1AP15;E9PSH2;H3BLV0;H7BY55;Q14UF3 AB003312;AB240566;AB240567;AB240568;AB240569;AB240570;ABBA01048247;AF052110;AK298549;AK300621;AK312448;AL391597;AL596218;AMYH01001680;AY055757;AY055758;AY055759;AY055760;AY851161;BC001288;BI545505;BT007159;CA432400;CA748776;CH471100;DC386415;HI573864;M15799;M30142;M31516;M64653;NG_007465;NM_000574;NM_001114752;S72858;U88576 AAA52167;AAA52168;AAA52169;AAA52170;AAB48622;AAC60633;AAH01288;AAL25832;AAL25833;AAL25834;AAL25835;AAP35823;AAW29942;ABM81702;ABM84861;BAA22900;BAE97422;BAE97423;BAE97424;BAE97425;BAE97426;BAG35355;BAG60746;BAG62314;CBX47421;EAW93485;EAW93486;EAW93487;EAW93488;EAW93489;EAW93490;EAW93491;EAW93492;EAW93493;EAW93494;EAW93495;EAW93496;EAW93497;EAW93498;EAW93499;NP_000565;NP_001108224;P08174 Hs.126517 1658900;1662556;1673231;1701254;1769851;1774916;1795674;1853964;2124252;2131657 D12S1886;DAF_16;RH104255;RH67915;SHGC-36215;SHGC-64092;SHGC-76268;SHGC-76273;SHGC-76278;WI-20337 CR;CROM;DAF;TC CD55 antigen;OTTHUMP00000034398;OTTHUMP00000034399;OTTHUMP00000034400;OTTHUMP00000034420;OTTHUMP00000228537;OTTHUMP00000228538;complement decay-accelerating factor;decay accelerating factor for complement APPROVED protein-coding ENSG00000196352 2665 00500 125240;613793 REVIEWED 1343400 CD58 CD58 molecule This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 1 1 p13 116858680 116915126 - 117057156 117113715 - 1580863;6480464 7544493;19506219;19497873;19375175;19268704;19237575;19110536;18820826;17168569;17085486;16830383;16602701;15963548;15093607;12798307;12553064;12496412;12477932;11575926;11051456;10380930;10220497;10200255;10099837;9574540;9510189;9350325;8889548;7545392;7515920;3313052;19109405;3309127;1377404;1757107;7589092;12853962;16169070;20570633;18650830;19525953;19525955;19834503;19865102;19879194;19898481;20237496;20368992;20806065;21832049;20450971;21244703;21362770;21982860;21726122;22137796;22190364;21833088 965 B1AMW1;H0YDI1;P19256 ABBA01068487;ABBA01068488;ABBA01068489;AK125710;AK291980;AL355794;AL390066;AMYH01000969;AMYH01000970;BC005930;BT019816;BT019817;CA312671;CD365881;CH471122;CR456939;CS278854;D28586;HH979247;NM_001144822;NM_001779;NR_026665;S79616;X06296;Y00636;Y14780 AAB40000;AAH05930;AAV38619;AAV38620;BAA05922;BAF84669;CAA29622;CAA68668;CAA75083;CAA75084;CAG33220;CAJ86521;CBX51827;EAW56652;EAW56653;EAW56654;EAW56655;EAW56656;NP_001138294;NP_001770;P19256 Hs.34341 1649214;1677879;1692004;1752733;1754575;1791772;2115943;2155680;2161156;5119480 AL010069;AL033745;D1S3262;D1S3454;PMC124986P3;RH78061;SHGC-106572;SHGC-132861;SHGC-53613;SHGC-75374 FLJ23181;FLJ43722;LFA-3;LFA3;ag3 CD58 antigen, (lymphocyte function-associated antigen 3);OTTHUMP00000024363;OTTHUMP00000024364;OTTHUMP00000231922;OTTHUMP00000231923;ag3;lymphocyte function-associated antigen 3;surface glycoprotein LFA-3 APPROVED protein-coding ENSG00000116815 1688 01081 153420 REVIEWED 1351600 CD6 CD6 molecule This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 q13 60495750 60544425 + 60739113 60787849 + 1580863;6480464 21145461;21833088;12493773;1919444;19525953;18707547;17601777;17371992;16914752;16818773;16818742;16344560;16034076;12477932;12473675;9436462;9394826;9013954;7678115;7589069;7543097;3923629;2016320;10899308;20810246;20726988;19865102;19879194;20237496;20430450;21244703;21552549;21849685;21178331;21956609;21988832;23128233;22685579 923 E7ER04;F5H835;F6UFK6;G5E973;H0YGL3;P30203;Q6AZ88;Q8N4Q7 ABBA01021518;ABBA01021519;AI657093;AK126159;AK128419;AK292704;AK312749;AMYH01003668;AMYH01003669;AP003721;BC033755;BC078669;CH471076;DB147406;DB155411;DQ786329;DQ786330;L78838;NM_001254750;NM_001254751;NM_006725;NR_045638;U34623;U34625;U66142;U66143;U66144;U66145;U66146;X60992 AAA86417;AAA86419;AAC51161;AAC51162;AAC51163;AAC51164;AAC51165;AAH33755;AAH78669;AAL40085;AAL40086;AAL40087;AAL40088;AAL40089;ABH04237;ABH04238;BAF85393;CAA43306;EAW73917;EAW73918;EAW73919;EAW73920;EAW73921;EAW73922;EAW73923;NP_001241679;NP_001241680;NP_006716;P30203 Hs.744366 1335673;1659414;1682391;2150814 D11S1765;RH70609;RH79917;STS-X60992 FLJ44171;TP120 CD6 antigen;OTTHUMP00000236965;OTTHUMP00000236967;OTTHUMP00000236969;OTTHUMP00000236970;OTTHUMP00000236971;T-cell differentiation antigen CD6;T12 APPROVED protein-coding ENSG00000013725 1691 01724 186720 VALIDATED 1318347 CD5L CD5 molecule-like 1 1 q21-q23 156067330 156078175 - 157800704 157811634 - 1580863;6480464 9045627;14718574;19204726;19155514;19116453;18660489;16710414;16344560;16030018;15489334;15340161;12975309;12477932;11981870;8034987;20237496;20379614;23236605;21970839;18051367 922 O43866 ABBA01016636;AF011429;AF147312;AK292040;AL139409;AMYH01001443;AY358494;BC033586;CH471121;CS538845;CS615452;DA957550;NM_005894;U82812 AAB91989;AAD01446;AAH33586;AAQ88858;ABM84541;ABM86224;BAF84729;CAM90872;CAO02287;EAW52859;NP_005885;O43866 Hs.134035 1672113;1729218;1778017;1857334;2166566 D1S176;D1S3339;D1S3558;RH12832;SHGC-58141 AIM;API6;PRO229;SP-ALPHA;Spalpha CD5 antigen-like;CT-2;OTTHUMP00000024057;apoptosis inhibitor 6;igM-associated peptide protein-coding ENSG00000073754 1690 03997 602592 VALIDATED 736600 CD59 CD59 molecule, complement regulatory protein This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 p13 33681132 33714600 - 33724556 33758025 - 1600478;1600479;1600482;1600483;1600485;1600486;1600487;1600493;1600494;1600495;1580863;1600500;2326189;2293548;2306066;2326192;6480464;6907045;7240710 16751365;16425382;15843577;14519760;12909127;12483994;12453906;10530491;10450801;9846834;7523753;19254481;10637067;15726105;12898600 21252115;12577067;1381503;7691713;9724629;19424617;19380765;19344414;19297024;19254252;19200600;19168743;19131645;19116988;18954403;18842294;18487376;18445344;18443552;18362151;18158579;17671359;17644516;17635812;17585877;17505110;17412968;16908271;16859540;16844690;16602701;16493049;16344560;16341674;16274631;16179371;16032396;15766396;15543155;15489334;15448097;15389819;15351205;15231748;15151618;15147772;14962294;14702039;14635045;14517339;12880676;12646570;12645951;12553064;12477932;12219031;11477359;11095009;10805801;10708443;10341291;9444417;9358772;9238658;9235986;9054419;9053451;8995588;8969267;8889548;8876826;8798614;8789559;8670172;8650218;8526992;8276756;7686996;7683594;7673728;7553895;7544344;7530684;7523406;7520819;7515200;7512825;7505007;2606909;2476718;2475570;2475111;2302178;1702747;1699124;1692709;1689664;1383553;1383132;1382994;1377690;1377404;1376264;1372592;10786997;8887350;9263011;7539755;16563273;19686460;19737458;19781296;19804910;20212283;20237496;20638094;19662541;22701098;20689133;20727519;20961375;19622297;17500595;23006730;21507937;21727667;21545652;22000275;21720565;21802665;21129240;22293503;22480874;15907827;21932413;23149847;17110338;21963094;23049856;19369333;19955519;21813604 966 E9PI80;E9PNW4;E9PR17;H0YET2;P13987;Q6FHM9 ABBA01060881;ABBA01060882;ABBA01060883;AI147924;AK128571;AK309894;AK311778;AL037045;AL049629;AL049957;AL080087;AL703204;AMYH01003485;AU136899;AU139009;AU139541;AW166662;BC001506;BC033226;BE899630;BG284181;BI752924;BM457931;BM551313;BM680161;BM724931;BM829941;BM911556;BQ230563;BQ440441;BT007104;BU154979;BX475103;CF529941;CH471064;CR407661;CR541722;DA250543;DA578905;DA840870;DA917093;M27909;M34671;M84349;M95708;NG_008057;NM_000611;NM_001127223;NM_001127225;NM_001127226;NM_001127227;NM_203329;NM_203330;NM_203331;X16447;X17198;X84805;Z14113 AAA51952;AAA60543;AAA60957;AAA88793;AAH01506;AAP35768;ABM84744;ABM92257;ABW03275;BAG34721;CAA34467;CAA35059;CAA78486;CAG28589;CAG46523;EAW68192;EAW68193;NP_000602;NP_001120695;NP_001120697;NP_001120698;NP_001120699;NP_976074;NP_976075;NP_976076;P13987 Hs.278573;Hs.709466;Hs.710641 1650673;1655949;1776467;1797370;2116761;2125681;2140294;2160154;2169120;2171725;2184132;2186093;2186373;5037552 A004V27;CD59;CD59_1802;D11S3984;D11S4339;D11S4717;D8S2279;HUM0S15C02;RH18284;RH44913;RH45061;SHGC-32142;STS-M34671;STS-N37061 16.3A5;1F5;EJ16;EJ30;EL32;FLJ38134;FLJ92039;G344;HRF-20;HRF20;MAC-IP;MACIF;MEM43;MGC2354;MIC11;MIN1;MIN2;MIN3;MIRL;MSK21;p18-20 1F5 antigen;20 kDa homologous restriction factor;CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344);CD59 glycoprotein;Ly-6-like protein;MEM43 antigen;OTTHUMP00000232408;OTTHUMP00000232409;OTTHUMP00000232410;OTTHUMP00000232411;OTTHUMP00000232412;OTTHUMP00000232413;OTTHUMP00000232414;OTTHUMP00000232415;OTTHUMP00000232416;OTTHUMP00000232608;OTTHUMP00000232610;T cell-activating protein;cd59 antigen;human leukocyte antigen MIC11;lymphocytic antigen CD59/MEM43;membrane attack complex (MAC) inhibition factor;membrane attack complex inhibition factor;membrane inhibitor of reactive lysis;protectin;surface anitgen recognized by monoclonal antibody 16.3A5 APPROVED protein-coding 1689 00117 107271;612300 REVIEWED 1314316 CD68 CD68 molecule This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p13 7423529 7426153 + 7482805 7485429 + 1580863;6480464 21192298;7680921;19356953;19165649;18316565;17583472;17052752;16888915;16344560;16263699;15638380;15489334;15214825;12676954;12572894;12477932;12429719;12397372;10985244;9790779;8639768;8125298;20333725;19661345;20374310;21266828;21113139;22948049;22968485;21980389;22007938;22829776;22044760;22955918;22163030;22395501;22314623;21988832;23241402;22289504 968 J3KRX0;J3KT24;P34810 ABBA01054873;AC016876;AF060540;AK222492;AK222514;AK290238;AK298055;AK301223;AMYH01008085;AW294871;BC015557;BT009923;BX438711;BX647524;CH471108;DB187273;NG_009204;NM_001040059;NM_001251;S57235 AAB25811;AAC70006;AAH15557;AAP88925;ABM84727;ABM92248;BAD96212;BAD96234;BAF82927;BAG60349;BAG62796;EAW90165;NP_001035148;NP_001242;P34810 Hs.647419 1677160;1683743;1792084;1793826;2106979;2120336;2151291;2187387 CD68_7229;PMC136595P1;PMC296995P1;RH11637;RH83558;SHGC-31951;STS-R55342;WI-22031 DKFZp686M18236;GP110;LAMP4;SCARD1 OTTHUMP00000135285;macrophage antigen CD68;macrosialin;scavenger receptor class D, member 1 APPROVED protein-coding ENSG00000129226 1693 01093 153634 REVIEWED 735587 CD63 CD63 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012] 12 12 q12-q13 54405497 54409177 - 56119227 56123457 - 1580863;2314182;2314188;2314203;6480464 19233449;15817881;10547212 15229288;1993697;8661157;9602068;19458002;19381331;19079288;18669870;18600034;18426873;18321974;18211905;18182005;17827389;17624082;17522207;17390088;17350713;17279322;17275019;16918509;16917503;16908530;16683915;16410552;15711748;15528334;15489334;15375577;15146197;15130945;14660791;12974720;12871315;12826159;12755696;12754519;12610138;12579280;12480921;12477932;12230470;12175627;12036870;11907283;11752456;11739647;11328596;11278880;11204565;11113129;10529602;10436028;10405235;10229664;9822308;9759843;9360996;9360995;9111230;9006891;8871662;8757325;8630057;7682577;7629079;4062294;3365686;2516848;2171551;1879540;1599482;1339263;9271374;19581020;21527913;1435334;20237496;20633031;20693981;20337613;21315401;10708443;16533950;21149578;21103663;19246649;19292867;21803846;21674799;21521534;21660937;21139048;21890473;21906983;15647390;18727065;16712791;11584299;12885763;14722309;15140999;16682056;16683918;16735575;16940516;17381240;17550307;17989173;18006034;18059278;18076669;18305041;18369466;18500329;18714047;18946087;18977142;19284574;19297499;19369333;19403684;19426143;19474101;19602278;19802344;19894777;19912576;20012524;20622010;20727121;21248205;21909273;22808325;22830021;22875976;22980332;9685355 967 C9JV86;F8VNT9;F8VV56;F8VWK8;F8VX62;F8W022;P08962 AA583189;ABBA01008384;AC009779;AF508304;AK311893;AL582859;AMYH01004494;AMYH01004495;AV650763;BC002349;BC013017;BE407235;BG478842;BG766593;BQ434569;BT007073;BT020137;BT020138;BU167765;BU190521;BU960599;CB128206;CD250685;CH471054;CN296813;CN296834;CN484590;CR542096;D00874;DB495090;EB386351;M58485;M59907;NG_008347;NM_001257389;NM_001257390;NM_001257391;NM_001257392;NM_001257400;NM_001257401;NM_001267698;NM_001780;S93788;X07982;X62654 AAA63235;AAB21617;AAH02349;AAH13017;AAM34259;AAP35736;AAV38939;AAV38940;ABM82174;ABM85359;BAG34834;CAA30792;CAA44519;CAG46893;EAW96827;EAW96828;EAW96829;NP_001244318;NP_001244319;NP_001244320;NP_001244321;NP_001244329;NP_001244330;NP_001254627;NP_001771;P08962 Hs.445570 1777687;2180712;5113148 RH93515;RK1421_1422;STS-AA035150 LAMP-3;ME491;MLA1;OMA81H;TSPAN30 CD63 antigen (melanoma 1 antigen);OTTHUMP00000243852;OTTHUMP00000243853;OTTHUMP00000243854;OTTHUMP00000243855;OTTHUMP00000243856;OTTHUMP00000243857;OTTHUMP00000243858;OTTHUMP00000243859;OTTHUMP00000243970;granulophysin;lysosomal-associated membrane protein 3;lysosome-associated membrane glycoprotein 3;melanoma 1 antigen;melanoma-associated antigen ME491;melanoma-associated antigen MLA1;ocular melanoma-associated antigen;tetraspanin-30;tspan-30 APPROVED protein-coding ENSG00000135404 1692 01121 155740 REVIEWED 1320672 CD7 CD7 molecule This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008] 17 17 q25.2-q25.3 77866035 77868769 - 80272746 80275480 - 1580863;6480464 11485208;3501369;1695199;3258561;19207946;18956470;18343790;17959857;17287851;16990185;16837044;16332967;15489334;12594831;12477932;12393702;11423532;10652336;10490978;9852078;9480746;8918688;8871597;8666891;8662072;8125298;2479685;1711009;1703303;19683346;19937140;20046078;20175919;20398252 924 J3QLC7;J3QLM0;J3QRF1;J3QS65;J3QS78;P09564;Q29VG3 ABBA01019675;AC132872;AK223465;AK298096;AK310061;AK310558;AMYH01008731;AY935534;AY935535;AY935536;AY935537;BC009293;BC013297;BI838777;BI906419;BM917451;BT006696;CH471099;D00749;M37271;NM_006137;X06180 AAA51953;AAH09293;AAH13297;AAP35342;AAY15454;AAY15455;AAY15456;AAY15457;ABM81666;ABM83516;ABM84837;ABM86736;BAA00646;BAD97185;BAG60381;CAA29546;EAW89763;EAW89764;EAW89765;NP_006128;P09564 Hs.36972 1699966;1741211;2128933;5015790 G29875;GDB:178581;GDB:180952;RH103593 GP40;LEU-9;TP41;Tp40 T-cell antigen CD7;T-cell leukemia antigen;T-cell surface antigen Leu-9;p41 protein APPROVED protein-coding ENSG00000173762 1695 01732 186820 REVIEWED 1351395 CD69 CD69 molecule This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011] 12 12 p13 9796349 9804764 - 9905082 9913497 - 1580863;6480464 8340758;19383348;18959746;18627570;18593762;17693977;17541278;17237603;16788832;16525420;16396693;15893733;15489334;14728878;12865808;12718936;12626587;12580810;12548561;12540017;12477932;12423306;12398872;12234263;12210415;12077230;11994706;11895929;11101293;11036086;10480634;10441371;8496594;8100776;8026529;7887967;7665567;1612643;8528739;16103171;11438519;9049297;21990950;19430480;19543397;19670272;20054122;20237496;20369839;20378605;15952571;17192395;21427408;21152932;21557772;21993667;22456278;22184722;22678911;19275586;22479639;23507197 969 B4E009;Q07108;Q53ZX0 ABBA01067794;AC007068;AK291869;AK303174;AK303383;AMYH01004275;AY238518;BC007037;CH471094;HI574208;L07555;NM_001781;Z22576;Z30426;Z38109 AAB46359;AAH07037;AAO63584;ABM84101;ABM87473;BAF84558;BAG64271;BAG64439;CAA80298;CAA83017;CAA86225;CBX47593;EAW96122;EAW96123;NP_001772;Q07108 Hs.208854 1644321;1646906;1743983;1795522;2163425 CD69_506;GDB:384725;RH68090;STS-Z22576;WI-9214 AIM;BL-AC/P26;CLEC2C;EA1;GP32/28;MLR-3 AIM;BL-AC/P26;C-type lectin domain family 2 member C;C-type lectin domain family 2, member C;CD69 antigen (p60, early T-cell activation antigen);EA1;GP32/28;MLR-3;OTTHUMP00000238849;OTTHUMP00000238850;activation inducer molecule (AIM/CD69);early T-cell activation antigen p60;early activation antigen CD69;early lymphocyte activation antigen;leukocyte surface antigen Leu-23 APPROVED protein-coding ENSG00000110848 1694 00119 107273 REVIEWED 1351721 CD70 CD70 molecule The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008] 19 19 p13 6536850 6542163 - 6585850 6591163 - 1580863;6480464 8120384;8387892;9177220;11920585;19573080;19452318;19380782;19109206;19029446;19018300;18256142;18216294;17615291;17548342;17132225;16892042;16751420;15723067;15489334;15188362;15153937;15128787;12926832;12477932;12197885;12100033;12031769;12009595;11980654;11728341;10800994;9862673;9767422;9366422;8690463;8580829;8186199;8120385;7706711;7479974;2163351;21490618;20724115;20628624;20568250;12324477;19394279;19556308;19638429;19773279;19955046;20119871;20139096;20201989;21182090;12777399;21550117;17192395;21192791;20699361;21304103;21880979;21541792;21865261;21906983;22306512;23576505;19322201;22377764;22401771;23206232;22399187 970 B4DPR8;M0QZW2;P32970;Q53XX4 ABBA01051465;AC008760;AK298467;AMYH01009377;BC000725;BT007211;CH471139;EF064709;HI179090;HI573892;L08096;NM_001252;S69339 AAA36175;AAB30121;AAH00725;AAP35875;ABK41892;BAG60680;CBX47435;CBX53853;EAW69074;EAW69075;NP_001243;P32970 Hs.501497;Hs.715224 2107691;2153355 STS-L08096;TNFSF7_1930.2 CD27L;CD27LG;TNFSF7 CD27 ligand;CD27-L;CD70 antigen;Ki-24 antigen;surface antigen CD70;tumor necrosis factor (ligand) superfamily, member 7;tumor necrosis factor ligand superfamily member 7 APPROVED protein-coding ENSG00000125726 11937 18515 602840 REVIEWED 1320264 CD72 CD72 molecule 9 9 p13.3 35599976 35608408 - 35609976 35618424 - 1580863;6480464;6907045 1711157;18071878;17121583;16047337;15588985;15489334;15459183;12882840;12477932;11466342;11114375;10820378;9740800;9590210;9110174;8806810;2141045;2044654;17786190;20100931;20237496;19913121;20628086;22606231;22111667;23268649 971 P21854;Q5T4Q7;Q5T4Q8;Q5TLG3 AB180952;AB180953;AB180954;AB180955;AB180956;AB180957;AB180958;AB180959;AB209587;ABBA01064989;AF283777;AK307305;AK309268;AK310093;AK310685;AK311283;AL357874;AMYH01019347;BC011734;BC030227;CH471071;DQ174771;EF064751;M54992;NM_001782 AAA36189;AAH30227;ABA55068;ABK41934;BAD72857;BAD72858;BAD72859;BAD72860;BAD72861;BAD72862;BAD72863;BAD72864;BAD92824;EAW58372;EAW58373;NP_001773;P21854 Hs.116481 1676558;1677318;2106981;2185528 CD72_7759;D11S4618;RH26484;RH98625 CD72b;LYB2 B-cell differentiation antigen CD72;CD72 antigen;OTTHUMP00000021342;lyb-2 protein-coding ENSG00000137101 1696 00118 107272 VALIDATED 1346600 CD79A CD79a molecule, immunoglobulin-associated alpha The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 q13.2 47073030 47077279 + 42381190 42385439 + 1580863;6480464;6907045;7240710 19243813;18160827;17701175;17374736;17350472;16271957;15591116;15492262;12651942;12477932;12403343;12186846;11909947;11907094;11449366;10748115;10540352;10438530;9561918;9531288;9418137;9120258;9110174;8747711;8666916;8656670;8207205;8144961;8125298;8077654;7989333;7927516;7916003;7643857;7592958;7539038;7516335;7514267;7512031;7500027;2463161;1940346;1881434;1591006;1569106;1538135;1534761;1446073;1395095;1292512;12886015;9183005;6196366;14499622;1729378;1639443;15174051;19573080;19883431;20237496;20102401;19913121;20628086;21324920;17878339;21822214;23264226 973 M0QX61;P11912 ABBA01040816;AC010616;AF283770;AK223371;AK315337;AMYH01009820;BC113731;BC113733;CH471126;JA738565;JA738567;L32754;M74721;M80462;M86921;NG_009619;NM_001783;NM_021601;S46706;S75217;S79248;U05259;X13451;X83540 AAA20495;AAA57274;AAA59556;AAA59557;AAA60270;AAB20812;AAB23558;AAC60653;AAG15590;AAI13732;AAI13734;ADR82885;BAD97091;BAG37737;CAA31802;CAA58523;CCF76935;CCF76936;EAW57075;EAW57076;NP_001774;NP_067612;P11912 Hs.631567 1661426;1677194;1743641;2217126;5120640;5120642 CD79A_3009;GDB:363615;GDB:363618;GDB:363621;RH49;STS-U05259 IGA;MB-1 B-cell antigen receptor complex-associated protein alpha chain;CD79a antigen (immunoglobulin-associated alpha);MB-1 membrane glycoprotein;ig-alpha;membrane-bound immunoglobulin-associated protein;surface IgM-associated protein APPROVED protein-coding ENSG00000105369 1698 00203 112205;613501 REVIEWED 1350471 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 5 5 q32 149761393 149772525 - 149781200 149792499 - 1580863;6480464;6907045 20357260;15194762;12970439;10981873;12782713;6324166;19592662;19131591;18941249;18842989;18828016;18719072;18684948;18178838;17959659;17567581;17142775;16678175;16618111;16542748;16428763;16107560;15972644;15845476;15688398;15489334;15475450;12477932;12058053;11927549;11897800;11754812;10748235;10022822;9843486;9752000;8574855;8397411;8343954;8316295;7519244;7477400;6982931;6955026;6586420;6576808;3866610;3459184;3132422;3036998;3001652;2507633;2391366;2121367;1448172;16454711;16365153;16439540;11593029;20646540;16242130;17045821;19423618;19665027;19845895;19849849;20198449;20443131;20820776;22659450;19913121;20628086;20864512;21228923;17192395;21543057;22952837;21832049;22935920;21417823;21423200;21059907;21792010;21890473;21906983;22039051;22216005;22611320;22042694;21748758;22069105;21945129;22178447;22942358;21988832;22689013;22889831;18438604;18524831;18596106;19327048;20012522;20463068;21068258;21922073;22761382 972 E7EQJ3;E7ER71;E7ESL3;H0YBZ2;H0YBZ8;Q8SNA0 ABBA01026281;AC011372;AC011388;AK292076;AK297889;AK300669;AK308929;AMYH01015707;BC018726;BC024272;BF796148;BT019505;CH471062;DC354760;K01144;M13560;M28588;M28589;M28590;NG_029730;NM_001025158;NM_001025159;NM_004355;X00497;X03339;X03340 AAA35996;AAA36033;AAA36304;AAA58655;AAH18726;AAH24272;AAO49820;AAV38312;ABM82931;ABM86120;BAF84765;BAG60210;BAG62354;CAA25192;CAA25193;CAA27046;CAA27047;EAW61727;EAW61728;EAW61729;EAW61730;EAW61731;NP_001020329;NP_001020330;NP_004346;P04233 Hs.436568 1667593;1679904;1794506;2125640;2179010;5127664 D5S2405;PMC316580P4;RH11594;RH11625;RH46360;RH93024 DHLAG;FLJ98970;HLADG;II;Ia-GAMMA HLA class II histocompatibility antigen gamma chain;HLA-DR antigens-associated invariant chain;HLA-DR-gamma;Ia-associated invariant chain;MHC HLA-DR gamma chain;OTTHUMP00000224283;OTTHUMP00000224284;OTTHUMP00000224285;OTTHUMP00000224286;OTTHUMP00000224288;OTTHUMP00000224338;gamma chain of class II antigens;ia antigen-associated invariant chain;ii;p33 APPROVED protein-coding ENSG00000019582 1697 00825 142790 REVIEWED 1352472 CD83P1 CD83 molecule pseudogene 1 6 p22.1 27528605 27529550 - 100128240;387033 ABBA01037999;AL021918;AMYH01016189;NG_022297 CD83P;HB15p;b34I8.3 APPROVED pseudo 13946 INFERRED 1604068 CD82 CD82 molecule This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p11.2 44543717 44597915 + 44587141 44641339 + 2289398;2289401;2289404;2289406;2289422;68869;2289425;2289399;2289403;2289405;2289390;2289391;2289400;2289402;2289407;6480464;6907045;7240710 15958618;14706010;12497033;15277499;10321446;9831222;15642213;12684410;12079303;17393117;17290345;15592684;12806379;11275982 15205336;1842498;7754374;19371633;19148553;19116362;19107873;19082457;19048121;18981120;18712725;18622748;18415123;18305955;18272501;18037895;18028322;17982617;17621632;17560548;17215249;17200188;17166843;16861889;16488391;16325219;15996322;15677461;15557282;15454569;15375577;15259074;15237426;14576349;12955496;12753720;12750295;12747469;12738793;12642901;12579280;12477932;12474542;21454613;11981820;11895916;11839793;11350933;11278880;11162423;10985391;10749879;10602019;10582691;10229664;9804823;9759843;9126478;8816400;8757325;8125298;7636191;2065333;1596907;1401919;16735575;10741407;15492270;15829968;22718295;20075392;16169070;17520389;17672940;19024519;19497983;19549254;19559406;19656997;19666408;19680475;19755988;19951590;20002769;20089858;20144992;20237496;16712791;19489224;16494006;21149584;21168384;21382346;17283532;23102249;21459729;22681921;21875585;21691075;21521534;21965773;21685244;21906983;22152691;21961244;22393164;22443383;22123080;22320990;22320993;22390300;22679510;20581239;22670173;23076981;23055153;23449627;11584299;12885763;17381240;17989173;18034776;18059278;18946087;19284574;20012524;20864363;22505724;9685355 3732 E9PJ45;E9PJ59;E9PJB7;E9PJC7;E9PJK9;E9PM43;E9PP61;H0YD57;P27701 ABBA01060770;AC010768;AK225410;AK225708;AK312677;AMYH01003523;AY303776;BC000726;BC001821;BT019761;BT019762;CB127804;CH471064;CR407650;CR542255;JA738773;JA738775;NG_023234;NM_001024844;NM_002231;S48196;U20770;U67266;U67274 AAB23825;AAC50133;AAC51205;AAH00726;AAH01821;AAP76181;AAV38566;AAV38567;ABM83228;ABM86427;BAG35558;CAG28578;CAG47051;CCF77039;CCF77040;EAW68063;EAW68064;EAW68065;NP_001020015;NP_002222;P27701 Hs.527778 1762839;1771896;2124461;5014051;5015619;5021872;5024039;5037552;7184045 D11S3114;D16S325;D8S2278;D8S2279;G02140;SHGC-146608;STS-X53795;sY3084 4F9;C33;GR15;IA4;KAI1;R2;SAR2;ST6;TSPAN27 C33 antigen;CD82 antigen;OTTHUMP00000232950;OTTHUMP00000232951;inducible membrane protein R2;kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4));metastasis suppressor Kangai-1;tetraspanin-27;tspan-27 APPROVED protein-coding 6210 09004 176807;600623 REVIEWED 730908 CD79B CD79b molecule, immunoglobulin-associated beta The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 q23 59359830 59363436 - 62006098 62009704 - 633033;1580863;6480464;6907045;7240710 9545642 7516335;8486355;18029348;18978465;17709424;17701175;17374736;17315213;16847312;15661909;15489334;12651942;12477932;12453414;12393534;12384401;11907094;11389892;9531288;9521881;9418137;9120258;8747711;8656670;8555489;8419481;8125298;8077654;7913081;7643857;7592958;7541024;7539038;7538118;21355953;7514267;7512031;1591006;1534761;10808179;12482395;12886015;7500027;21324920;19573080;19773279;20237496;19913121;20628086;20568250;22808296;17878339;21906983;19322201;20881960 974 P40259;Q6PIS4 ABBA01035315;AC127029;AK222954;AK223210;AK313583;AMYH01008552;AX775815;AX775817;BC002975;BC030210;BC032651;CH471109;JA738625;JA738627;JA738629;L27587;M80461;M89957;NG_007368;NM_000626;NM_001039933;NM_021602;S52229;S79249;U22954;X83538;X83539 AAA58387;AAA64459;AAA72424;AAA98831;AAB24822;AAC60654;AAH02975;AAH30210;AAH32651;BAD96674;BAD96930;BAG36353;CAA58522;CAE11607;CAE11608;CCF76965;CCF76966;CCF76967;EAW94227;EAW94228;EAW94229;EAW94230;EAW94231;EAW94232;NP_000617;NP_001035022;NP_067613;P40259 Hs.89575 1687738;1794892;2217128 CD79B_3258;PMC83897P1;RH93822 AGM6;B29;IGB B-cell antigen receptor complex-associated protein beta chain;B-cell-specific glycoprotein B29;CD79b antigen (immunoglobulin-associated beta);Ig-beta;immunoglobulin-associated B29 protein APPROVED protein-coding ENSG00000007312 1699 00922 147245;612692 REVIEWED 737082 CD80 CD80 molecule The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011] 3 3 q13.3-q21 120725830 120761171 - 119243140 119278481 - 1580863;2307200;4892562;5132623;5132619;5132620;5132622;5132621;5132624;5132270;4892292;6480464;6902939;6902902;6902906;6902903;6902898;6893671;727266;6893670;6893665;6902936;6893647;6902937;6902938;6893669;6907045 11160314;20949109;10604996;21440530;21352203;21108691;21051864;19658094;19922665;19729666;22068168;9379015;22004797;20653937;20876353;10078962;21310664;22192168;10712436;22917707;10657664;10590132;21494618 22561518;15034022;14978077;14975605;14871408;14692664;14530356;12905492;12878356;12860928;12829919;12829914;12800259;12798307;12606712;12569387;12513711;12477932;12444120;12372936;12355442;12352894;12149421;12100477;12097397;12067755;12015893;11936473;11830501;11826754;11751963;9915850;1370389;19433065;19258923;19240061;19056875;19012493;18929847;18802089;18676680;18585785;18577795;18546634;18026115;18005680;17989345;17977894;17953528;17925605;17703412;17524139;17323353;17309825;17201120;16690948;16621031;16521215;16237760;16237059;16002699;15942292;15628695;15598660;15489334;15377288;15342556;15272203;15254772;15254713;15201958;15163715;15110532;15063762;11741888;11726649;11279502;11222911;11196673;11169444;11168574;11168518;11137584;11123305;11045378;10807504;10661405;9286703;9282998;9250865;8814244;8361751;7545666;7527824;7499425;2794510;1714935;1377173;8086129;7541827;17077296;16454711;16272310;16177101;7589092;15956545;15611322;15610849;20145927;12660731;16818765;17605869;19170196;19550123;19625176;19692168;19811307;19817957;20066438;20118277;20190752;20237496;20331378;20503287;9032261;20601595;21982860;23470321;20716621;20802378;20884055;21048031;20140740;20979791;21399635;21469977;21474713;20034904;22704122;18928583;21288140;21555531;23289444;21697455;22074996;22142817;21414970;23000144;23273568;18945465;19149577;19275586;19458171;19828628;21778700;22103833 941 A0N0P2;P33681;Q5DTA9;Q5DTB0 ABBA01061582;ABBA01061583;AC073352;AK292129;AMYH01013419;AY081815;AY197777;AY197778;BC042665;BP225173;CH471052;EF064750;M27533;M83077;NM_005191;U72535 AAA36045;AAA58390;AAC51754;AAH42665;AAL89819;AAO39208;AAO39209;ABK41933;BAF84818;EAW79564;EAW79565;NP_005182;P33681 Hs.838 1645107;1679790;1754815;2155589;2170824 D3S2834E;D3S4161;RH65151;SHGC-12394;SHGC-141736 B7;B7-1;B7.1;BB1;CD28LG;CD28LG1;LAB7 B-lymphocyte activation antigen B7;CD80 antigen (CD28 antigen ligand 1, B7-1 antigen);CTLA-4 counter-receptor B7.1;OTTHUMP00000215214;OTTHUMP00000215215;T-lymphocyte activation antigen CD80;activation B7-1 antigen;cd80 antigen;costimulatory factor CD80;costimulatory molecule variant IgV-CD80 APPROVED protein-coding ENSG00000121594 1700 00202 112203 REVIEWED 1348494 CD8BP CD8b molecule pseudogene 2 2 q12.1 106470165 106490647 + 107103824 107124137 + 8575821;8436166;8346216;3860845;1541829 927 A6NJW9 ABBA01043974;AC108868;AMYH01010845;NG_002423 A6NJW9 1648194;2145898 D2S2568;RH70958 CD8B2 cd8 antigen, beta polypeptide 2, pseudogene (p37) pseudo 1708 INFERRED 731700 CD81 CD81 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. [provided by RefSeq, Jul 2008] 11 11 p15.5 2355123 2375225 + 2398547 2418649 + 734728;6480464;6907045;7240710 11781363 11273649;11226150;11087758;10459022;10229664;9794763;9403053;9360996;9360995;8816400;8630057;8168850;8039242;7690834;2398277;1860863;1695320;1650385;1383329;16940516;16735575;16682056;16533950;18713730;18851979;12175627;9804823;7636191;10741407;10846074;12604806;11080483;12522210;10729140;15136562;11504738;14676841;18029348;19573080;19476617;19458002;19328198;19284574;19148942;19030166;18981120;18829747;18805782;18799285;18676680;18579606;18566382;18523555;18466772;18382656;18355410;18337570;17942559;17941058;17827389;17784784;17522207;17507469;17457918;17407154;17329343;17194487;17166843;17079294;17079281;17015697;16912317;16735696;16641285;16352525;16339892;16289162;16169070;15956553;15767432;15670777;15500552;15489334;15294858;15280458;15123813;14966136;14728804;14722300;14607925;12970454;12913001;12645944;12597781;12519228;12492902;12483205;12477932;12471100;12437138;12421929;12368358;12210407;12209363;12036870;11781364;11739647;11673522;11278880;21526201;22560863;19170196;19559406;19625176;19626614;19654214;19692168;19755988;19773279;19817957;19828092;19830727;19846809;19901060;20004001;20089661;20237408;20237496;20331378;20588308;20375010;20568250;21048031;21103663;21151997;21241315;21343309;21428934;21428935;21737455;22939629;22855500;21551950;21677313;22074322;23226274;21139048;21890473;21906983;23126643;22355327;21963094;21988832;22897233;23264468;23349980;23463506;11584299;12885763;17381240;17989173;18034776;18059278;18076669;18321974;18369466;18945959;19426143;19602278;19802344;19894777;19912576;20012524;20727121;21060818;21705339;21813604;22808325;22830021;22980332;9685355;22333880;22740401 975 A6NMH8;E9PIF1;E9PJK1;E9PM31;E9PPF5;E9PQV4;E9PRJ8;H0YDJ9;H0YDL9;H0YEE2;P60033 AB209380;ABBA01032092;ABBA01032093;AC124057;AC129929;AMYH01003321;BC002978;BC093047;BG397506;BQ709484;BT019507;BT019508;CB055265;CH471158;EF064749;M33680;NG_023386;NM_004356 AAA36663;AAH02978;AAH93047;AAV38314;AAV38315;ABK41932;ABM82762;ABM82775;ABM85948;BAD92617;EAX02507;EAX02508;NP_004347;P60033 Hs.54457 1769794;2171408;2185147 GDB:678191;SHGC-57855;WI-18911 CVID6;S5.7;TAPA1;TSPAN28 26 kDa cell surface protein TAPA-1;CD81 antigen;CD81 antigen (target of antiproliferative antibody 1);OTTHUMP00000011528;OTTHUMP00000011529;OTTHUMP00000229004;OTTHUMP00000229005;OTTHUMP00000229006;OTTHUMP00000229008;OTTHUMP00000229358;OTTHUMP00000229392;cd 81 antigen;target of antiproliferative antibody 1;target of the antiproliferative antibody 1;tetraspanin-28;tspan-28 APPROVED protein-coding ENSG00000110651 1701 08924 186845;613496 REVIEWED 1349028 CD84 CD84 molecule This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 1 1 q24 158782419 158815889 - 160510884 160549306 - 6480464 11414741;21145461;9310491;7797269;18243321;17563375;16710414;16037392;15489334;15245368;12962726;12928397;12621057;12477932;12115647;11689425;11564780;11477068;11389028;11313386;11238035;10746783;10698700;3008886;17192395;22068234;23555300 8832 Q8WLP1;Q96RX1 ABBA01016612;AF054815;AF054816;AF054817;AF054818;AF081189;AF114490;AJ223324;AK296290;AK313496;AL138930;AMYH01001453;BC020063;CA448708;CH471121;CR541847;CR933666;NM_001184879;NM_001184881;NM_001184882;NM_003874;U82988;U96627;Y12632 AAB84364;AAD04232;AAD13155;AAF21721;AAF21722;AAF21723;AAF21724;AAH20063;AAK68906;ABM82634;ABM85798;BAG36278;BAH12304;CAA11264;CAA73181;CAG46645;CAI45963;EAW52707;EAW52708;EAW52709;EAW52710;EAW52711;EAW52712;NP_001171808;NP_001171810;NP_001171811;NP_003865;Q9UIB8 Hs.398093 1771542;2186483;5016478;5021369;5022651 AL009296;D11S2921;G16260;GDB:434012;L17796 DKFZp781E2378;LY9B;SLAMF5;hCD84;mCD84 CD84 antigen (leukocyte antigen);OTTHUMP00000024394;OTTHUMP00000024395;OTTHUMP00000024396;OTTHUMP00000024397;OTTHUMP00000024398;SLAM family member 5;cell surface antigen MAX.3;hly9-beta;leucocyte differentiation antigen CD84;leukocyte antigen CD84;leukocyte differentiation antigen CD84;signaling lymphocytic activation molecule 5 APPROVED protein-coding ENSG00000066294 1704 05151 604513 VALIDATED 1320150 CD83 CD83 molecule The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 6 6 p23 14225844 14245128 + 14117487 14137149 + 1580863;6480464 18056445;15956545;1378080;8422464;9310491;19321495;19234177;19195701;19130553;18755511;18625638;18292234;17628801;17561858;17535098;17469160;17428858;17197902;17178712;16806233;16484227;16344560;16012714;15905506;15721284;15489334;15454113;15340161;15320871;14962896;14687618;12857898;12594843;12477932;12182451;12072358;11751963;11238630;10567699;9799334;9417921;8125298;7706722;15611322;21469977;20566323;20861805;19317050;21076370;19257981;20118277;20237496;22134374;22065790;23339870;22446963;21963094;21988832;23251661;17360657;19828628 9308 Q01151 ABBA01022139;AK223315;AK290426;AK307059;AK309541;AL022396;AL133259;AMYH01016100;AMYH01016101;BC004351;BC030830;BT019498;CH471087;CQ815388;CQ840966;CR457019;DA532022;DB178710;HI574018;HI574020;NG_030372;NM_001040280;NM_001251901;NM_004233;S53354;Z11697 AAB25085;AAH30830;AAV38305;ABM83282;ABM86489;BAD97035;BAF83115;CAA77755;CAG32923;CAG33300;CAH05711;CBX47498;CBX47499;EAW55351;EAW55352;EAW55353;NP_001035370;NP_001238830;NP_004224;Q01151 Hs.595133 1674361;2115661;2171311 D6S1838;RH46624;WI-21167 BL11;HB15 B-cell activation protein;CD83 antigen;CD83 antigen (activated B lymphocytes, immunoglobulin superfamily);OTTHUMP00000016057;cell surface protein HB15;cell-surface glycoprotein;hCD83 APPROVED protein-coding ENSG00000112149 1703 05170 604534 REVIEWED 736307 CD8B CD8b molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010] 2 2 p12 86895971 86942549 - 87042460 87089047 - 6480464;6484113;6907045 11131152;2493728;9830036;16103193;3145195;18490743;12702212;12477932;12459555;12215456;11937547;10809759;10623829;9550407;8436166;3860845;3264320;3145196;3114136;2536941;2111591;1541829;15980863;21685912;16344560;19768696;20379614;21954283;22013062;19322201;18473783;19149577;21543478;21922073;21936714;22844345 926 E9PD41;Q9UDB5 ABBA01075791;ABBA01075792;ABBA01075793;ABBA01075794;ABBA01075795;AC111200;AC112696;AK303360;AK303595;AMYH01010508;AW296309;AW611750;AY032722;BC100911;BC100912;BC100913;BC100914;BP392114;BQ004743;DB223179;DC405359;JA738613;JA738615;JA738617;JA738619;M17514;M36712;NM_001178100;NM_004931;NM_172101;NM_172102;NM_172213;S55731;S87075;S87083;S87087;S87090;X13444;X13445;X13446;X13452;Y00805 AAA35664;AAA52283;AAB21668;AAB21669;AAB21670;AAB21671;AAB21672;AAD13877;AAI00912;AAI00913;AAI00914;AAI00915;AAK91556;AAK91557;AAY24019;BAG64420;BAG64610;CAA31795;CAA31796;CAA31797;CAA31803;CAA68750;CCF76959;CCF76960;CCF76961;CCF76962;NP_001171571;NP_004922;NP_742099;NP_742100;NP_757362;P10966 Hs.405667 1648194;2145898;2162329;5015861;5017999;5022578;7185938 D10S16;D1S1423;D2S2568;EMBRA118;RH70958;SHGC-11929 CD8B1;LYT3;Leu2;Ly3;MGC119115;P37 CD8 antigen, beta polypeptide 1 (p37);OTTHUMP00000160762;OTTHUMP00000160763;OTTHUMP00000198673;OTTHUMP00000203521;T lymphocyte surface glycoprotein beta chain;T-cell surface glycoprotein CD8 beta chain;cd8 antigen, beta chain APPROVED protein-coding ENSG00000172116 1707 01725 186730 REVIEWED 1604658 CD86 CD86 molecule This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011] 3 3 q21 123256911 123322673 + 121774209 121839990 + 2313906;2313911;2313930;2313917;2313932;2313920;2313939;2307206;2313927;4892202;4892210;2313025;4892207;4892209;4892211;4892199;4892295;4892277;4892293;4892246;4892570;4892227;4892339;4892280;4892554;4892555;4892258;4892281;4892343;4892229;4892291;4892292;4892553;4892237;4891504;4892294;4892329;4892562;4892560;6480464;6902938;6907045 18316361;16232222;8993020;15356107;8816976;12742378;8899799;11266944;10679081;9551945;20113783;19053043;20451260;20233162;19907296;20668438;19197726;20941750;19693657;20171363;19933871;10477557;17713660;17513529;16790753;9449507;17947667;20395561;17088138;18381617;20046053;19729666;16861672;18360875;20732370;19282343;18292558;20949109;16272336;10590132 12015893;11986949;11826754;11823047;11751963;11726649;11714768;11702979;11496240;11279501;11238115;11207262;11196673;11169444;11162656;11123305;11029388;11021528;10886401;10464129;9573027;9250865;7694153;7542604;7541777;7527824;7520767;7495740;7489738;17077296;16272310;16177101;15956545;15611322;9915850;7694363;7513726;19299714;19258923;19012493;18941200;18676680;18580477;18577795;18506362;18322188;18301333;18069758;18005680;17989345;17977894;17925605;17919231;17703412;17622942;17524139;17386046;16712644;16690948;16339520;16223675;16115907;16002699;15942292;15895390;15628695;15623548;15489334;15280476;15163715;15110532;15059478;15045639;15034022;15019278;14978077;14975605;14871408;14727087;14692664;12905492;12878356;12829914;12672403;12606712;12582153;12513711;12486098;12477932;12372936;12213904;12187923;12100033;12097397;12071705;22732586;22371880;21469977;12660731;16818765;17605869;19170196;19257981;19430862;19550123;19625176;19692168;19735272;19852851;20066438;20067533;20100932;20118277;20230296;20237496;20331378;20380573;20433886;20503287;9032261;17963596;20802378;20884055;20971123;21048031;19913121;20601595;20628086;20979791;20212510;22962607;19086656;11756476;16344560;21474713;20019769;20388394;21540807;21525579;21628959;21896490;21563968;21911468;22199280;22074996;22659416;22182632;22246628;21833088;22190364;21870962;22142817;22379101;21988832;22821131;21982860;23175469;23289444;23470321;18945465;19149577;19275586;19828628;20012528;21778700;21922073;22103833;22558273;22808111 942 A8K632;C9JXS1;F8W8W1;H7C4F8;Q6GTS4 ABBA01016472;ABBA01016473;AC068630;AK291497;AK294663;AK301237;AK313103;AK316203;AMYH01013429;BC040261;BX093060;CD705810;CH471052;CR541844;DA619360;EF064748;L25259;NG_029928;NM_001206924;NM_001206925;NM_006889;NM_175862;NM_176892;U04343;U17722 AAA58389;AAA86473;AAB03814;AAH40261;ABK41931;ABM84713;ABM92234;BAF84186;BAG35926;BAH11839;BAH13438;BAH14574;CAG46642;EAW79493;EAW79494;NP_001193853;NP_001193854;NP_008820;NP_787058;NP_795711;P42081 Hs.171182 1649198;1652076;1667695;1697368;1758301;1795524;2127943 CD86_510;D3S2989;G31041;RH102182;RH11462;SGC35242;SHGC-147993 B7-2;B7.2;B70;CD28LG2;LAB72;MGC34413 B-lymphocyte activation antigen B7-2;B-lymphocyte antigen B7-2;B7-2 antigen;BU63;CD28 antigen ligand 2;CD86 antigen (CD28 antigen ligand 2, B7-2 antigen);CTLA-4 counter-receptor B7.2;FUN-1;OTTHUMP00000215511;OTTHUMP00000215512;OTTHUMP00000215513;OTTHUMP00000215514;OTTHUMP00000215515;T-lymphocyte activation antigen CD86;activation B7-2 antigen APPROVED protein-coding ENSG00000114013 1705 03011 601020 REVIEWED 1347739 CD99L1 CD99 antigen-like 1 7833914 4196 7083 735285 CD8A CD8a molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 p12 86865239 86871638 - 87011728 87035519 - 6480464;6484113;6907045;7240710 11131152;2470098;2493728;9830036;2496167;18956469;18833003;18695005;18650384;18625635;18483277;18418773;18398508;18156204;18089323;17950725;17678538;17658607;16821115;16818755;16344560;15975922;15927673;15078895;14702039;14559993;14500983;12899833;12594841;12477932;12215456;12124384;11937547;11914379;11729321;11435463;11140838;11102443;10843658;10809759;10623829;10562325;10490978;10444591;10022843;9804427;9790534;9550407;9366416;9331948;9177355;8127870;6605969;6440142;3936473;3918796;3871356;3145195;2877435;2701945;2536941;2509342;1908512;1834739;22143984;1676132;1547508;1541829;16454711;16354571;11251883;1377690;1831127;21430066;19751272;19752186;19768696;20053942;20237496;20644117;20704820;20682852;21142701;21257970;20850477;21518761;22185976;21645925;21818290;17213291;21813446;21948982;21954283;22045731;23185362;22001684;22013062;22551306;21988832;23400868;23225889;19149577;21543478;21936714;22103833;22175768;22345473;22811543;22844345 925 B4DT80;B8ZZZ4;P01732;Q6ZVS2;Q8TAW8 AA668685;ABBA01075791;AC064848;AC112696;AK097942;AK124156;AK300089;AMYH01010507;AY039664;BC025715;CH471053;DA075688;DB129686;M12824;M12828;M26313;M26314;M26315;M27161;NG_011608;NM_001145873;NM_001768;NM_171827;NR_027353 AAA59674;AAA61133;AAA79217;AAA79218;AAB04637;AAH25715;AAK72403;AAX88864;ABM84249;ABM87637;ABM87638;BAC85789;BAG53555;BAG61892;EAW99438;EAW99439;EAW99440;EAW99441;NP_001139345;NP_001759;NP_741969;P01732 Hs.85258 1741477;1771174;2178221 D2S2642;GDB:181237;SHGC-6997 CD8;Leu2;MAL;p32 CD8 antigen, alpha polypeptide (p32);Leu2 T-lymphocyte antigen;OKT8 T-cell antigen;OTTHUMP00000160760;OTTHUMP00000160764;OTTHUMP00000203527;OTTHUMP00000203528;OTTHUMP00000203721;T cell co-receptor;T-cell antigen Leu2;T-cell surface glycoprotein CD8 alpha chain;T-lymphocyte differentiation antigen T8/Leu-2;T8 T-cell antigen;cd8 antigen, alpha chain APPROVED protein-coding ENSG00000153563 1706 01737 186910;608957 REVIEWED 732702 CD9 CD9 molecule This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011] 12 12 p13.3 6179816 6217688 + 6309482 6347437 + 734730;1580863;2289405;2326197;2289390;2326208;2326206;2326207;2326200;6480464 10634790;12079303;17406028;17393117;11505398;14695144;14534881;16132579 11278880;11504738;7511626;8478605;14575715;2037603;10515286;6198179;19458002;19330835;19254692;18981120;18710926;18544636;18541721;18508921;18483358;18247373;18000614;17668233;17644758;17582603;17522207;17407154;17203208;17018612;17015697;16951553;16900214;16682943;16537545;16491954;16297202;16144798;16128989;16103120;15985154;15941914;15591117;15489334;15476162;15389525;15226408;15196249;15145525;15047125;14556650;12579280;12569360;12477932;12453879;12411441;12175627;12086470;12036870;11959120;11920609;11858824;11846885;11739647;11735113;11325968;11238109;11204565;11087758;10711425;10694273;10518536;10459022;10229664;10227388;10065872;9813091;9812906;9804823;9360996;9295027;9111230;8630057;8486348;2358073;1997380;1939101;1879540;1840589;1720807;1377690;16940516;16735575;10741407;15492270;10429193;17845760;20118909;20547009;20566742;16341674;19777564;19896186;19955810;20227387;20237496;8194524;19559406;20940407;20574531;20727121;20862371;20937409;21036922;21063023;21161334;6792721;8521390;9133457;21244575;17192395;21103663;23142642;21428940;21241315;21549094;20422979;23225418;23291167;21365281;21674799;22613496;21521534;17997888;19692500;22095071;21139048;21906983;22592495;21963094;23223239;19322201;20581239;22139419;17989173;18034776;18321974;18725936;19426143;19602278;19802344;19894777;21813604;22980332 928 A6NNI4;F5GXT1;G8JLH6;P21926 AB079244;ABBA01017634;AC006057;AI003581;AK296332;AK296894;AK298431;AK308700;AK309527;AK311020;AK315219;AMYH01004202;AY422198;AY423720;AY966455;BC011988;BG291377;BM763066;CH471116;HM245393;JA738701;L08119;L08120;L08121;L08122;L08123;L08124;L34068;M38690;NM_001769;S60489;X60111 AAA51954;AAA51955;AAA51956;AAA51957;AAA51958;AAA51959;AAA59982;AAA80320;AAC60586;AAH11988;AAQ87878;AAS00483;AAX78197;ABM82240;ABM85424;BAE71132;BAG59021;BAG59453;BAG60652;CAA42708;CCF77003;EAW88812;EAW88813;NP_001760;P21926 Hs.114286;Hs.712104 1657643;1733626;1775869;1782588;2127694;2139043;2145984;2154826;2178699;2217132;5094038 A010B11;CD9_3002;D12S1005;D12S1887;G10611;G33070;GDB:384746;RH44617;SHGC-132041;SHGC-34900;STS-M38690 5H9;BA2;BTCC-1;DRAP-27;FLJ99568;GIG2;MIC3;MRP-1;P24;TSPAN-29;TSPAN29 5H9 antigen;BA-2/p24 antigen;CD9 antigen;CD9 antigen (p24);OTTHUMP00000041574;OTTHUMP00000041575;OTTHUMP00000041576;OTTHUMP00000238624;antigen defined by monoclonal antibody 602-29;cell growth-inhibiting gene 2 protein;growth-inhibiting gene 2 protein;leukocyte antigen MIC3;motility related protein;motility related protein-1;motility-related protein;p24 antigen;tetraspanin-29;tspan-29 APPROVED protein-coding ENSG00000010278 1709 00880 143030 REVIEWED 1343806 CD96 CD96 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q13.13-q13.2 109660587 109770891 + 112743616 112853896 + 111260926 111371206 + 1580863;6480464;7240710 1313846;15034010;19056733;17847009;17576927;12477932;9845376;20237496;21685187;21729528;22879978;23272144 10225 E9PEJ1;F8WDV3;H7C4F0;P40200;Q8WUE2 ABBA01061670;ABBA01061671;AC055748;AC092916;AK290719;AK315237;AL833681;AMYH01013389;AW341041;BC020749;BC027914;CH471052;NG_012156;NM_005816;NM_198196 AAH20749;BAF83408;BAG37664;CAI46155;EAW79696;EAW79697;EAW79698;NP_005807;NP_937839;P40200 Hs.142023 1336105;1678449;1784852;2134760;2142721;5015619;5022578;5037552 D11S3114;D1S1423;D3S1572;D8S2279;G15945;RH41685;SHGC-155976;STS-M88282 DKFZp667E2122;MGC22596;TACTILE CD96 antigen;OTTHUMP00000214642;OTTHUMP00000214643;OTTHUMP00000214645;T cell activation, increased late expression;T-cell surface protein tactile;cell surface antigen CD96;t cell-activated increased late expression protein APPROVED protein-coding ENSG00000153283 16892 06916 211750;606037 REVIEWED 1351917 CD93 CD93 molecule The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008] 20 20 p11.21 23007993 23014977 - 23059993 23066977 - 1580863;6480464 11781389;15459234;15819698;9047234;11994479;10092817;19372141;19344414;19166692;18834607;18599554;18094537;16381901;15489336;15489334;14702039;12891708;12477932;12213329;12140365;11780052;11256614;11204562;11086025;11076863;10648005;10430665;9777410;9476117;9469455;9136074;8710908;8062452;2212670;1377218;17474147;19423540;19796797;20237496;20406964;20438785;20512406;22206251;21768350;21332844;23268996;23272129;21988832;23251661 22918 Q9NPY3 AB209895;ABBA01016174;AJ295142;AK056764;AK299957;AL118508;AMYH01011775;BC028075;CH471133;NM_012072;U94333 AAB53110;AAH28075;ABM81981;ABM85160;BAD93132;BAG61784;CAC82720;CAL38160;CAL38627;EAX10171;NP_036204;Q9NPY3 Hs.97199 1661514;1665011;1690079;1795454;2128663 C1QR1_1469;D20S1017;RH48371;RH91421;STS-W72082 C1QR1;C1qR(P);C1qRP;CDw93;ECSM3;MXRA4;dJ737E23.1 C1q receptor 1;C1q/MBL/SPA receptor;C1qR;CD93 antigen;OTTHUMP00000030419;complement component 1 q subcomponent receptor 1;complement component 1, q subcomponent, receptor 1;complement component C1q receptor;matrix-remodeling-associated protein 4;matrix-remodelling associated 4 APPROVED protein-coding ENSG00000125810 15855 00396 120577 REVIEWED 1348574 CDAN2 congenital dyserythropoietic anemia, type II 7240710 9345103 980 1714 224100 735542 CD99L2 CD99 molecule-like 2 This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q28 150182357 150315225 - 149685467 149817837 - 149934809 150067289 - 6480464 12477932;11230166;16381901;15489336;14702039;12975309;12706889;11076863;18163232 83692 H0Y4H3;Q8TCZ0 ABBA01037155;ABBA01037156;ABBA01037157;ABBA01037158;ABBA01037159;ABBA01037160;ABBA01037161;ABBA01037162;ABBA01037163;ABBA01037164;ABBA01037165;ABBA01037166;ABBA01037167;ABBA01037168;AF002223;AF274573;AK023776;AK024278;AK098810;AK125020;AK126859;AK290200;AK291375;AK293244;AK295217;AL136580;AMYH01023216;AMYH01023217;AY078165;AY078166;AY078167;AY358837;BC007569;BC013029;BC019857;BC025729;BC030536;CH471169;DC323066;NG_021320;NM_001184808;NM_001242614;NM_031462;NM_134445;NM_134446 AAH07569;AAH13029;AAH25729;AAH30536;AAL86617;AAL86618;AAL86619;AAQ89196;ABM82248;ABM85432;BAF82889;BAF84064;BAG54124;BAG56778;BAG58211;CAB66515;CAL38481;CAL38661;EAW99389;EAW99390;EAW99391;EAW99392;EAW99393;EAW99394;EAW99395;EAW99396;NP_001171737;NP_001229543;NP_113650;NP_604394;NP_604395;Q8TCZ2 Hs.522805 1669084;1702420;1703140;1846996;2141484;2186345;5095086 A007J06;CD99L2;DXS903;DXS911;RH78121;WI-12644;WI-4154 CD99B;DKFZp761H2024;MIC2L1 CD99 antigen-like protein 2;MIC2-like protein 1;OTTHUMP00000026059;OTTHUMP00000026060;OTTHUMP00000214875 APPROVED protein-coding ENSG00000102181 18237 300846 REVIEWED 1350236 CDAN3 congenital dyserythropoietic anemia, type III 7240710 7711721 981 1334614;7186364 D15S114;D15S125 1715 1351187 CDB2 corneal dystrophy of Bowman's layer type II (Thiel-Behnke) 7240710 9403072 982 1337532;2127482 D10S1239;D10S1671 1716 602082 1322377 CDA cytidine deaminase This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008] 1 1 p36.2-p35 20788031 20817988 + 20915444 20945401 + 1580863;2316364;2316365;6480464;6907045 17194903;18347182 7923172;9596658;15689149;16303324;19293806;18775979;18762567;18600531;18538445;18537153;17640070;17479107;17464349;16710414;16507781;16446974;16304576;15713780;15489334;14983087;14744791;14565461;14565460;12844405;12477932;12113294;12107413;10497201;9878810;8422236;8001985;53069;12651944;17207965;20890066;20563566;20608756;20665488;16169070;19035178;19458626;19536092;19889077;19898482;19941076;20028759;20045991;20173083;20196672;20213492;20453000;20637228;20211060;21332653;22592598;21538122;21325291;22939629;21652582;21858090;21987572;22884143;22304580;22052224;21625252;21963094;22546611 978 P32320;Q71UE9 ABBA01059784;ABBA01059785;ABBA01059786;ABBA01059787;AF061655;AF061656;AF061657;AF061658;AF095644;AJ000474;AL391357;AMYH01000322;AY634312;BC048284;BC054036;CD675458;CH471134;L27943;NM_001785;S52873 AAA57254;AAB24946;AAC69599;AAD15828;AAH54036;AAT47715;ADQ33051;CAA04113;EAW94931;EAW94932;EAW94933;NP_001776;P32320 Hs.466910 1660558;1853816;2110309;2184805;5117092 AL009683;CDA__4531;D13S1652;GDB:435475;SHGC-74413 CDD OTTHUMP00000002883;cytidine aminohydrolase;cytidine deaminase;cytosine nucleoside deaminase;small cytidine deaminase APPROVED protein-coding ENSG00000158825 1712 11744 123920 REVIEWED 1344139 CD99 CD99 molecule The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. Cyclophilin A binds to CD99 and may act as a signaling regulator of CD99. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2013] X;Y X;Y p22.32 and Yp11.3 2619228 2669350 + 2559228 2609350 + 1580863;6480464 2479542;2465491;19307784;19289593;18849489;18552083;17652531;17471235;17464179;17213182;17202377;16984917;16825498;16713569;16614706;16421247;16361803;16189514;15716602;15528994;15489334;15469477;15388255;15359120;15184883;14744088;14646598;14623115;12832073;12681511;12526082;12508122;12477932;12216109;12172043;11290771;10941840;9720506;9670951;7506950;7464908;6540985;4065101;4058580;3472717;3460334;3442403;2934738;2877492;2456574;20184665;21196719;19723899;19901887;20197622;20483773;20217126;20453109;22864685;21566515;23145531;21775056;22392539;23333754;21267687;22083306;21139048;21890473;22189791;22020966;21988832;9278313;23152061;22505724 4267 A6NGF6;A6NJT9;A8MQT7;H7C2F2;P14209 ABBA01038608;ABBA01038609;AC006209;AK313617;AMYH01022014;BC002584;BC003147;BC010109;BC021620;BC024310;CH471074;CR450286;DT216927;HI179154;J03841;M16279;NG_009174;NM_001122898;NM_001277710;NM_002414;U82164;X16996 AAA02999;AAA59848;AAB58501;AAH02584;AAH03147;AAH10109;AAH21620;AAH24310;ABM82838;BAG36379;CAA34863;CAG29282;CBX53885;EAW98697;EAW98698;EAW98699;EAW98700;NP_001116370;NP_001264639;NP_002405;P14209 Hs.653349 1338178;1688851;1703138;1732463;1742157;1742923;1743233;2143157;2188091;2188097;2188107;2217130 CD99_2912;DXYS228;DXYS75;G66051;G66054;G66059;GDB:192493;GDB:215809;GDB:309156;MIC2;RH38670;WI-8991 HBA71;MIC2;MIC2X;MIC2Y;MSK5X 12E7;CD99 antigen;E2 antigen;MIC2 (monoclonal antibody 12E7);OTTHUMP00000022840;OTTHUMP00000022842;OTTHUMP00000022843;OTTHUMP00000022844;T-cell surface glycoprotein E2;antigen identified by monoclonal 12E7, Y homolog;antigen identified by monoclonal antibodies 12E7, F21 and O13;surface antigen MIC2 APPROVED protein-coding ENSG00000002586 7082 02434;02465 313470;450000 REVIEWED 1323516 CDADC1 cytidine and dCMP deaminase domain containing 1 13 13 13 q14.2 30877932 30923465 + 48720099 48765619 + 49822047 49867622 + 6480464 16955368;12477932;11752456;16344560 81602 F2Z2H0;F2Z2J8;G8JLM2;H0Y447;Q9BWV3 ABBA01051015;AK297400;AK312835;AL137554;AL138875;AMYH01005107;AV648588;AY027525;BC009562;BC022801;BC032889;BC048092;BC070238;BC092434;BC125202;BC125203;CH471075;DA400049;DA560379;NM_001193478;NM_030911;NR_036439 AAH09562;AAH32889;AAH48092;AAH70238;AAH92434;AAI25203;AAK16745;BAG35689;BAG59840;CAB70808;EAX08815;EAX08816;EAX08817;EAX08818;EAX08819;NP_001180407;NP_112173;Q9BWV3 Hs.388220 1684142;1700298;1847083;1847222;2187022 D5S2649;RH103768;RH98518;STS-AA040034;WI-13561 MGC150615;MGC41774;MGC57136;NYD-SP15;RP11-103J18.2;bA103J18.1 OTTHUMP00000018405;cytidine and dCMP deaminase domain-containing protein 1;protein kinase NYD-SP15;testis development protein NYD-SP15 protein-coding ENSG00000102543 20299 16693 VALIDATED 1313717 CD97 CD97 molecule This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011] 19 19 p13 14353213 14380535 + 14491956 14519537 + 1580863;2317573;6480464 12428789 8955192;11297558;17474147;7636245;19428565;18329191;18267122;17449467;16929497;16818763;16344560;16273233;15576472;15489334;15057824;14702039;14647991;12829604;12477932;12417446;12414513;11380941;11037979;10540231;9764855;9135025;9064337;8786105;8125298;16712791;19737555;20237496;15498814;20428763;19913121;20628086;20339853;20167235;21156175;22210915;21906983;21978933;21963094;22797060;22313360;22547928;22768192 976 K7EKV5;K7ELE5;K7EPE8;K7EPP8;P48960 AB065966;ABBA01029670;ABBA01029671;ABBA01029672;ABBA01029673;ABBA01029674;ABBA01029675;AC008569;AI890331;AK097264;AK225655;AK225677;AK292159;AK300343;AK304553;AK308368;AK314697;AMYH01009529;AMYH01009530;AU117846;AX775807;AX775809;AX775811;AX775813;AY545551;BC026690;BM545710;CB127827;CH471106;DC381605;DC414739;HI574004;HI574006;HI574008;NG_029253;NM_001025160;NM_001784;NM_078481;U76764;X84700;X94630 AAB36682;AAH26690;BAC06178;BAF84848;BAG37246;BAG53442;BAG62088;BAG65348;CAA59173;CAA64333;CAE11603;CAE11604;CAE11605;CAE11606;CBX47491;CBX47492;CBX47493;EAW84412;EAW84413;NP_001020331;NP_001775;NP_510966;P48960 Hs.466039 1661759;1728629;1769790;2106983;2165592;2175756 CD97_3201.2;G29823;G63606;RH12356;RH79172;STS-X84700 TM7LN1 CD97 antigen;leukocyte antigen CD97;seven transmembrane helix receptor;seven-span transmembrane protein;seven-transmembrane, heterodimeric receptor associated with inflammation APPROVED protein-coding ENSG00000123146 1711 03130 601211 REVIEWED 1604976 CDC14C cell division cycle 14C 7 7 7 p12.3 49065688 49068017 + 48934703 48937595 + 48964157 48967049 + 6480464 18547142;16201836;12477932;23400010 168448 A4D256 AACC02000076;ABBA01008187;AC006024;AMYH01017237;BC028690;BC068452;CH236955;DQ120635;NR_003595 A4D256;ABB92421;EAL23905;EAL23906 Hs.567757 CDC14B2;CDC14Bretro;MGC26484 APPROVED pseudo 22427 PROVISIONAL 1322476 CDC14B cell division cycle 14B The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 9 9 q22.3 98302216 98421933 - 99262395 99382112 - 1580863;6480464;6907045 18662541;9367992;18547142;18458157;18418058;16344560;15911625;15899858;15362113;12853468;12697818;12477932;12134069;11901424;10644693;8125298;20479464;21301228;21379580;19686743;18029348;22784093 8555 H0Y577;H7C3U8;O60729;Q5JU07 ABBA01043578;ABBA01043579;ABBA01043580;ABBA01043581;ABBA01043582;ABBA01043583;AF023158;AF064104;AF064105;AK126388;AK225361;AL133477;AL353578;AMYH01021545;AMYH01021546;AY675321;BC050013;CH471174;DA943563;EF611343;NM_001077181;NM_003671;NM_033331 AAB88293;AAC16661;AAC16662;AAI56667;AAT70726;ABR12627;BAG54321;EAW92658;EAW92659;NP_001070649;NP_003662;NP_201588;O60729 Hs.40582 1659741;1700328;1715673;2117964;2121887;2133075;2153782;2173974;5015861;5015881;5020936;5037552;7185938 D10S16;D8S2279;D9S1011E;D9S1145;GDB:335751;RH103784;RH119282;RH65524;SGC35176;SGC38141;STS-H84156;STS-N29550 CDC14B3;Cdc14B1;Cdc14B2;hCDC14B CDC14 cell division cycle 14 homolog B;OTTHUMP00000021729;OTTHUMP00000021730;OTTHUMP00000021732;OTTHUMP00000215877;OTTHUMP00000215878;OTTHUMP00000215879;dual specificity protein phosphatase CDC14B APPROVED protein-coding ENSG00000081377 1719 04615 603505 REVIEWED 1315579 CDAN1 codanin 1 This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009] 15 15 q15.2 40803052 40816709 - 43015760 43029417 - 1600473;6480464;7240710 12434312 17353931;18575862;18464913;18081704;16767397;15489334;12975309;12477932;8634422;16169070;19336738;20301759;22863883;22407294;21364188 146059 H3BM60;H3BPZ6;Q8IWY9 ABBA01038365;AC090510;AF525398;AL133019;AMYH01006585;BC001092;BC008333;BC008334;BC052568;BC066640;BC113821;CH471125;NG_012491;NM_138477 AAH01092;AAH08333;AAH08334;AAH52568;AAH66640;AAO14994;EAW92576;EAW92577;EAW92578;EAW92579;NP_612486;Q8IWY9 Hs.599232 1650657;1665669;2132532;2191345 D15S637E;D15S896;MARC_17743-17744:1031760523:1;SHGC-24154 CDA1;CDAI;DLT;PRO1295 codanin-1;congenital dyserythropoietic anemia, type I;discs lost homolog APPROVED protein-coding ENSG00000140326 1713 08470 224120;607465 REVIEWED 1605274 CDC20P1 cell division cycle 20 pseudogene 1 9 9 9 q21.33 60198117 60199750 + 88816225 88818045 + 89626489 89628125 + 9682218 157956 ABBA01016315;AL513318;AMYH01021477;NG_001560 2120668;2151793 RH67938;STS-U05340 CDC20P APPROVED pseudo 29487 INFERRED 1312211 CDC14A cell division cycle 14A The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 p21 100590611 100758421 + 100818023 100985833 + 6480464;6907045 16221885;9367992;19152073;18235225;17623655;17371873;17172867;16784539;16760464;16344560;15911625;15489334;15263015;12477932;12134069;11901424;11598127;10644693;10409437;14968112;20379614;20477815;20508983;20956543;16712791;18029348;8889548;20479464;21233601;23051732;22020438;22784093 8556 C9JSP6;F5H7B3;Q59EF4;Q8IXX0 AA929031;AB209857;ABBA01045439;AC104457;AF000367;AF064102;AF064103;AF122013;AK302310;AK310292;AK310657;AL589990;AMYH01000825;AMYH01000826;AY623111;BC038979;BC071578;BC093916;BC093918;BU609013;CB156695;CH471097;DA461435;DA885382;DQ530256;NM_003672;NM_033312;NM_033313 AAB88277;AAC16659;AAC16660;AAD49217;AAH38979;AAH93916;AAH93918;AAT38107;ABF74568;BAD93094;BAG63648;EAW72956;EAW72957;EAW72958;EAW72959;EAW72960;NP_003663;NP_201569;NP_201570;Q9UNH5 Hs.127411 1665789;1687365;1715113;1756689;1761135;1795528;2117252;2149486;2167971 A008M41;AFMa109wh5;AL009775;CDC14A_422;RH119509;RH92716;SHGC-143777;SHGC-145140;SHGC-75230 cdc14;hCDC14 CDC10 (cell division cycle 10, S. cerevisiae, homolog);CDC14 cell division cycle 14 homolog A;OTTHUMP00000012653;OTTHUMP00000012654;OTTHUMP00000012655;OTTHUMP00000012656;dual specificity protein phosphatase CDC14A APPROVED protein-coding ENSG00000079335 1718 04614 603504 REVIEWED 1602643 CDC20B cell division cycle 20B 5 5 5 q11.2 51361686 51421844 - 54444580 54504760 - 54408799 54469005 - 6480464 16344560;14702039;12477932 166979 Q8IUZ8 AB077043;AB077044;AB081750;AB086378;ABBA01015736;ABBA01015737;AC091977;AI471861;AK095246;AMYH01015088;BC037547;BC136572;CH471123;DA434860;DB237622;NM_001145734;NM_001170402;NM_152623 AAH37547;AAI36573;BAB97393;BAC04508;BAC67701;BAC67702;BAC67705;EAW54901;EAW54902;EAW54903;EAW54904;EAW54905;EAW54906;EAW54907;NP_001139206;NP_001163873;NP_689836;Q86Y33 Hs.669184 1731369;2125206;2161488;2184026;5019395;5022651;7184802 D11S2921;D18S21;PMC152543P1;SGC34842;STS-N22158;STS-N33071 FLJ37927;G6VTS76519 CDC20 cell division cycle 20 homolog B;CDC20-like protein;OTTHUMP00000161831;OTTHUMP00000222381;OTTHUMP00000222382;OTTHUMP00000222383;cell division cycle 20 homolog B;cell division cycle protein 20 homolog B APPROVED protein-coding ENSG00000164287 24222 13428 VALIDATED 733862 CDC123 cell division cycle 123 10 10 p13 12277971 12332593 + 12237961 12292589 + 632556;6480464 8601400 19020323;15319434;10942595;19502414;19247373;19139842;19020324;18714373;18591388;18567820;18372903;15489334;15342556;15164054;14702039;12477932;9683532;8125298;16385451;19602701;19670153;19720844;19741467;19794065;19833888;19933996;20075150;20161779;20379614;20490451;20712903;20816152;20879858;20889853;20927120;20571754;20862305;22923468;18781797;21987572;21139048;21890473;21906983;21909839;21946350;15231748;21963094;22961080;23000965;23284291;22939629;22053931 8872 H7BZW7;O75794 ABBA01034664;ABBA01034665;ABBA01034666;ABBA01034667;AK023925;AK225634;AK289362;AK308790;AL512770;AMYH01002030;AMYH01002031;AMYH01002032;AW006077;BC001600;BC009598;BP367374;CH471072;CR456966;D14878;NM_006023;U27112 AAC34738;AAH01600;AAH09598;BAA03593;BAF82051;CAG33247;EAW86317;EAW86318;NP_006014;O75794 Hs.412842;Hs.703246 1850631;5022578;5037552 D1S1423;D8S2279;WI-11468 C10orf7;D123;FLJ13863 HT-1080;OTTHUMP00000019106;OTTHUMP00000019108;OTTHUMP00000019110;PZ32;cell division cycle 123 homolog;cell division cycle protein 123 homolog APPROVED protein-coding ENSG00000151465 16827 12586 VALIDATED 1312892 CDC16 cell division cycle 16 This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 13 13 q34 114018464 114056252 + 115000362 115038150 + 6480464;6907045 12956947;11285280;7736578;14593737;15029244;10793135;11256614;11535616;11742988;12070128;10548110;11340163;16964243;16565220;15489334;14702039;14657031;12629511;12477932;12196507;12029633;11691834;11179667;10922056;10500174;10477750;10318877;9628895;9469815;9405394;18997788;10498862;21043528;11076961;17827148;16319895;11739784;12686615;16364912;18485873;20056645;20508983;22990118;23007861;23160376;22939629;21926987;20080579;9356466;20360068;22193957;21139048;21549307;21890473;21906983;17187060;19535905;19826003;20733055;21335556;19531213;16648845;16921029 8881 Q13042;Q5T8C6;Q7Z651 AB209850;ABBA01006266;ABBA01006267;AF164598;AK095082;AK296424;AK315302;AL160396;AL540490;AMYH01005417;AY599074;BC010875;BC017244;BC050575;CH471085;NM_001078645;NM_003903;U18291 AAC50200;AAD45156;AAH10875;AAH17244;AAS94323;BAD93087;BAG37707;BAG59086;EAX09237;EAX09238;EAX09239;EAX09240;EAX09241;EAX09242;EAX09243;EAX09244;EAX09245;NP_001072113;NP_003894;Q13042 Hs.374127 1340507;1662318;1672665;1732023;1738405;1742989;2116870;2131245;2134882;2171001;2171003;2182691;5017769;5019789 A001Y17;A009U45;CDC16;D13S1160;D13S1825;D13S327;D13S667E;G19778;G32861;G35279;GDB:229301;RH1616;RH47113;SHGC-10931 ANAPC6;APC6;CUT9 CDC16Hs;OTTHUMP00000018782;OTTHUMP00000018786;OTTHUMP00000018787;OTTHUMP00000018788;OTTHUMP00000178881;anaphase-promoting complex subunit 6;anaphase-promoting complex, subunit 6;cdc16 cell division cycle 16 homolog (s. cerevisiae);cell division cycle 16 homolog;cell division cycle protein 16 homolog;cyclosome subunit 6 APPROVED protein-coding ENSG00000130177 1720 04587 603461 REVIEWED 731833 CDC20 cell division cycle 20 CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008] 1 1 p34.1 43597213 43601461 + 43824626 43828874 + 632471;1580863;6480464;6907045 7513050 11030144;14743218;17353931;17719540;18022367;11285280;9682218;14593737;12791267;11535616;11742988;12070128;15469984;19197151;19154722;19117984;19098431;18997788;18953566;18591651;18471975;17908926;17873905;17598981;17388661;16795040;16777988;16710414;16572426;16497171;15761153;15701830;15623561;15525512;15489334;15388328;15280373;14657031;12887895;12477932;12198152;12196507;11988738;11976684;11907259;11891222;11804586;11553328;11389834;11274370;10700282;10679238;10377410;10366450;9811605;9736712;9734353;9637688;9628895;9353311;8125298;16751065;14607335;14561775;11707408;11438673;12956947;11459826;15916961;22692537;23091007;22318606;22322943;22566641;15694304;12456649;19282672;10318877;17443180;17443186;17679094;18162579;18592005;19426592;19738611;19826003;20053638;20054826;20624902;20526282;10799291;11562349;11702782;11751633;15923616;18354482;18794143;21145461;21596315;22000412;22280307;20733051;16287863;16319895;16479161;19336002;20739533;20729194;11459825;20200358;20948288;22990118;23007861;23160376;23239745;23318449;21454660;19483727;20512932;21439932;18059335;20064487;21725316;21874044;19820702;20360068;20937767;21926987;19822757;22086178;14701726;20383333;20663873;21139048;21890473;21906983;22193957;22100920;15014502;16455800;17360335;17403670;18372912;19477924;20081372;20733055;21335556;21336306;21743465;21903591;22475564;21937719;17609108;21525009;23288039;21832049;22505724;22426463 991 B4E1H5;Q12834 ABBA01050956;AF099644;AK225504;AK302539;AK303844;AK312780;AL139289;AMYH01000557;BC000624;BC001088;BC006272;BC009425;BC009426;BC010044;BC012803;BC012827;BC013303;BC015998;BC024257;BC031294;BC110321;BT007388;CH471059;DQ473545;NM_001255;U05340 AAA19017;AAD16405;AAH00624;AAH01088;AAH06272;AAH09425;AAH09426;AAH10044;AAH12803;AAH12827;AAH13303;AAH15998;AAH24257;AAH31294;AAI10322;AAP36052;ABE96834;ABM83216;ABM86415;ACE86546;ACE87227;BAG35643;BAG63811;BAG64787;EAX07101;EAX07102;NP_001246;Q12834 Hs.524947 1653959;1683477;2120668;2141046;2151793 A004O43;RH12828;RH67938;RH98782;STS-U05340 CDC20A;MGC102824;bA276H19.3;p55CDC CDC20 cell division cycle 20 homolog;OTTHUMP00000008571;OTTHUMP00000008572;cell cycle protein p55cdc;cell division cycle 20 homolog;cell division cycle protein 20 homolog APPROVED protein-coding ENSG00000117399 1723 04686 603618 REVIEWED 1353454 CDC26P1 cell division cycle 26 pseudogene 1 7 7 7 q32.1 123846436 123847139 - 128836927 128837640 - 129049694 129050397 - 12690205 729948 AACC02000035;ABBA01057635;AC009244;AMYH01017929;CH236950;NG_011774;NG_029180 1676748;1680393;1739195 D9S1647;RH27244;RH66343 CDC26P APPROVED pseudo 22770 INFERRED 3539738 CDC27P1 cell division cycle 27 pseudogene 1 2 2 2 q21.2 126738109 126740015 + 132735207 132737140 + 133018761 133020667 + 647696 ABBA01028221;AC097532;AMYH01011109;NG_021586 1731643 D14S145 APPROVED pseudo 38091 INFERRED 3077626 CDC27P2 cell division cycle 27 pseudogene 2 Y Y Y p11.2 3365820 3367729 - 10635394 10639907 - 10027998 10029907 - 100130277 ABBA01027395;AC010970;NG_021910 APPROVED pseudo 38092 INFERRED 1312484 CDC23 cell division cycle 23 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008] 5 5 q31 137551236 137576931 - 137523337 137549032 - 1580863;6480464;6907045 12629511;11285280;12188893;14657031;14593737;15029244;10793135;9790767;11535616;11742988;12070128;10548110;11340163;17081983;16964243;16565220;16189514;15489334;15345747;15302935;12477932;11256614;10922056;10500174;10318877;9469815;8125298;18162579;18997788;12956947;11076961;16648845;17609108;21043528;22280307;21336306;16364912;18485873;22990118;23022380;23007861;23160376;20080579;17942546;19322201;22792066;20360068;22193957;19531213;21139048;21549307;21906983;21990323;22939629;16921029;22505724 8697 D6RBY8;D6RCF8;H0Y936;Q9UJX2 AB011472;ABBA01068689;ABBA01068690;ABBA01068691;ABBA01068692;AC106752;AF053977;AF191341;AK223250;AK291610;AK304635;AMYH01015641;AY603103;BC005258;BC010944;BC017713;BT009810;CH471062;NM_004661 AAC70920;AAF05755;AAH05258;AAH10944;AAH17713;AAP88812;AAS99353;ABM82612;ABM85796;BAA75628;BAD96970;BAF84299;BAG65414;EAW62154;EAW62155;EAW62156;NP_004652;Q9UJX2 Hs.73625 1669521;1674948;1678153;1735548;2184146;5017392 D5S1673E;RH44568;RH48461;RH48651;RH91186;WI-14323 ANAPC8;APC8;CUT23 OTTHUMP00000159484;anaphase promoting complex subunit 8;anaphase-promoting complex subunit 8;cdc23 (cell division cycle 23, yeast, homolog);cell division cycle 23 homolog;cell division cycle protein 23 homolog;cyclosome subunit 8 APPROVED protein-coding ENSG00000094880 1724 07221 603462 REVIEWED 731492 CDC25A cell division cycle 25A CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21 48173672 48204805 - 48198668 48229801 - 1580863;2743964;2764000;2729590;2734052;2771824;2296067;2754551;2715645;6480464;6907045 18974148;17283130;20500813;19555767;16951165;18299147;17638870;17145867 22160829;17292828;12791985;11139144;18029348;1828290;10454565;12399544;19367581;19305144;19062161;19060337;19013180;18980975;18927589;18794133;18676680;18566993;18480045;18316586;18204780;18167338;18073536;17912454;17671423;17545210;17172867;17018577;17001315;16912045;16720623;16644029;16598773;16189514;15798217;15572030;15489334;14767575;14727060;14681206;14673957;14657354;14603323;14559997;14517313;12963847;12801928;12759351;12738732;12676925;12676583;12477932;12411508;12388094;12234927;12110582;11912208;11805096;11752153;11585757;11584018;11416155;11106571;10926775;10827953;10740819;10454584;10373531;10373478;9989807;9858615;9779991;9707427;9604936;9466490;9230211;8668211;8617791;8276402;7744247;7667636;7644510;1836978;18495657;9278511;9891079;15311285;10766737;21575861;20217459;20956543;20462953;20639859;20614206;11298456;15161933;19170196;19289404;19417033;19615732;19621387;19625176;19692168;19738433;19738611;19833767;20090422;20228808;20348946;20368335;20379614;20453000;20606298;19966869;21670150;23240008;21344162;16191191;22467868;21900206;21906983;21963094;21988832;22843495;22065597;22417828;14752276;19477924;16338364;22705122;21832049;22435685;17676996;18160429;22017875;22505724 993 C9JFR5;C9JH94;P30304 ABBA01024656;AC104190;AC124916;AF112978;AF277722;AF527417;AI917350;AJ242714;AK290554;AMYH01013148;AY137580;BC007401;BC018642;BQ065803;BX392016;CH471055;EU812118;M81933;NM_001789;NM_201567 AAA58415;AAG41884;AAH07401;AAH18642;AAM77917;AAN11305;ABM81679;ABM83845;ABM87167;ACI43572;BAF83243;EAW64849;EAW64850;EAW64851;EAW64852;NP_001780;NP_963861;P30304 Hs.437705 1688062;1743105;1769417;1797372;2120080;2133046 CDC25A_518.2;D3S4167;D3S4246;GDB:252110;RH11459;RH80886 CDC25A2 CDC25A2-CAG isoform;M-phase inducer phosphatase 1;OTTHUMP00000164816;OTTHUMP00000164817;dual specificity phosphatase CDC25A APPROVED protein-coding ENSG00000164045 1725 00305 116947 REVIEWED 1604653 CDC25B cell division cycle 25B CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008] 20 20 p13 3724401 3734762 + 3776401 3786762 + 2739695;4105451;4105454;4105449;2729590;6480464;6907045 19383904;14559803;12569365;15550849;20500813 17353931;9188863;1836978;8276402;15456846;1828290;19308021;18676680;18635965;18559558;18235220;18089784;17651784;17599046;17591782;10713667;10543950;10444066;10403798;9733650;9585407;9278511;9268380;9141461;8468065;8440392;7667636;7644510;1662986;11333986;17336969;17106257;17018577;17003105;16861915;16082213;15908796;15629715;15489334;15311285;15173315;15150265;15128871;15003534;14767575;14702039;12764136;12681290;12527891;12477932;12400006;12107172;11780052;11689696;10822367;10740819;17548358;16191191;17292828;17554300;19170196;19615732;19625176;19638579;19692168;19738611;19801682;20025242;20128929;20176018;20508983;20956543;21091437;20801879;21363925;15024056;21242964;21640712;21558810;21807946;21709669;17332740;20360068;21890473;21906983;21963094;21987572;21254220;22132193;15845771;18060429;18160429;22017875;22631674;22721997;22797925 994 B3KS38;B4DIG0;G8JLH2;Q6MZW8;Q6RSS1 ABBA01053832;AF036233;AK092713;AK124284;AK295573;AK299028;AK299192;AL109804;AMYH01011679;AY494082;BC006395;BC009953;BC051711;BX640836;BX647988;CH471133;FR695900;FR695901;M81934;NG_029040;NM_004358;NM_021872;NM_021873;S78187;X96436;Z68092 AAA58416;AAB21139;AAB94622;AAB94623;AAB94624;AAB94625;AAH06395;AAH09953;AAH51711;AAR26469;BAG52600;BAG58472;BAG61105;BAG61235;CAA65303;CAA92108;CAE45909;CBX26628;CBX26629;EAX10491;EAX10493;EAX10494;EAX10496;EAX10498;EAX10499;NP_004349;NP_068658;NP_068659;P30305 Hs.153752 1668754;2108719;2128827 CDC25B_1671.2;D20S1012;SHGC-30160 M-phase inducer phosphatase 2;OTTHUMP00000030137;OTTHUMP00000030138;OTTHUMP00000030139;cell division cycle 25B;dual specificity phosphatase Cdc25B APPROVED protein-coding ENSG00000101224 1726 00307 116949 REVIEWED 1322746 CDC26 cell division cycle 26 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008] 9 9 9 q32 86676902 86685483 - 115069109 115077690 - 116029288 116037869 - 1580863;6480464;6907045 11285280;14593737;15029244;10793135;10922056;11535616;11742988;12070128;10548110;11340163;15489334;15164053;12477932;8895471;12956947;21043528;17207965;16364912;18485873;22939629;14657031;23007861;20080579;20360068;22318606 246184 Q8NHZ8 ABBA01042690;AF503918;AL449305;AMYH01021669;BC042534;BC066300;BF244254;BQ446788;CA446805;CD685602;CH471090;NM_139286 AAH42534;AAH66300;AAM34207;ADQ32968;EAW87360;EAW87361;NP_644815;Q8NHZ8 Hs.727648 1676748;1680393;1682307;1739195 D9S1647;RH27244;RH46393;RH66343 ANAPC12;APC12;C9orf17 CDC26 subunit of anaphase promoting complex;OTTHUMP00000021952;anaphase promoting complex subunit 12;anaphase-promoting complex subunit 12;anaphase-promoting complex subunit CDC26;cell division cycle 26;cell division cycle 26 homolog;cell division cycle protein 26 homolog APPROVED protein-coding ENSG00000176386 17839 13012 614533 REVIEWED 2303454 CDC37P2 cell division cycle 37 pseudogene 2 16 16 16 p11.2 28093328 28094572 + 28332596 28333840 + 28425095 28426339 + 11413142 647015 ABBA01015958;AC138894;AMYH01007424;NG_009466 1738823 D16S2882 APPROVED pseudo 35453 INFERRED 1323559 CDC25C cell division cycle 25C This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. [provided by RefSeq, Jul 2008] 5 5 q31 137648858 137695415 - 137620959 137667516 - 1580863;2774210;4105450;4105452;4105448;2729590;4105453;2756028;4105455;2776427;6480464;6907045 16140946;15289842;12931023;15567944;20500813;12896904;17460776;12124347;16000564 22021033;16205633;22394631;16191191;8402895;8119945;7494303;7479023;7474100;1836978;1703321;1386342;16751065;15638722;15265780;15142382;11969417;15284440;11604498;15735702;15766665;8432534;10037602;16330544;17110335;17349584;11078813;12791985;11139144;1828290;2195549;10330186;11063929;9278512;11897663;12766774;19074854;18838868;18676680;18604163;18551998;18464119;18384749;18272575;18272572;18161793;18056802;17611691;17591782;17548228;17419986;17382881;17097061;16964243;16807237;16649252;16648550;16582626;16582488;16356754;16344560;15887239;15791647;15708996;15574328;15489334;15150265;14972559;14968113;14702039;12941695;12937170;12857880;12595692;12477932;12386164;12175337;12099692;11933156;11925443;11896603;11842186;11836499;11691994;11551930;11531413;11389730;11337467;11333986;11304565;11202906;10864927;10853038;10744722;10740819;10681541;10557092;9923681;9733650;9585407;9520381;9499405;9482729;9278511;9268380;9141461;8440392;20514472;20668692;14532005;15161933;16753148;19074885;19170196;19473963;19625176;19626602;19692168;20025242;20360007;20453000;20508983;9154803;9543386;21189416;15705874;16705183;17035231;22843362;11438675;21379580;20228808;11559705;12024051;20360068;21139048;21750987;21987572;22360685;8475101;16968750;19503101;22842784;11016625;12402044;19330022;11390642;12660173;12909615;15319445;18160429;18371353;18445273;19275586;19275588;19458171;20012529;21318276 995 D6RD20;D6RJC2;H0Y999;P30307 ABBA01068681;ABBA01068682;ABBA01068683;ABBA01068684;ABBA01068685;ABBA01068686;ABBA01068687;AC104116;AF086323;AF277723;AF277724;AF277725;AF277726;AF312681;AJ304504;AK097710;AK301828;AMYH01015641;AMYH01015642;AU098899;AY497474;BC019089;CH471062;DB040755;M34065;NM_001790;NM_022809;Z29077 AAA35666;AAG41885;AAG41886;AAG41887;AAG41888;AAH19089;AAL26835;AAR32098;ACE87029;ACE87715;BAG63273;CAC19192;EAW62145;EAW62146;EAW62147;EAW62148;EAW62149;EAW62150;NP_001781;NP_073720;P30307 Hs.656 1648787;2151177;2217134 CDC25C_3232;RH69126;STS-T96364 CDC25;PPP1R60 M-phase inducer phosphatase 3;OTTHUMP00000159489;OTTHUMP00000159490;OTTHUMP00000224012;OTTHUMP00000224013;OTTHUMP00000224016;dual specificity phosphatase CDC25C;mitosis inducer CDC25;phosphotyrosine phosphatase;protein phosphatase 1, regulatory subunit 60 APPROVED protein-coding ENSG00000158402 1727 01146 157680 REVIEWED 2303436 CDC37P1 cell division cycle 37 pseudogene 1 16 16 16 p11.2 28093257 28094690 + 28618998 28620433 - 28711497 28712932 - 15616553;12477932;10493829 390688 AC002544;AC145285;NG_009463 AAC27427 1738823 D16S2882 A-761H5.2 APPROVED pseudo 34406 INFERRED 1319564 CDC37L1 cell division cycle 37-like 1 CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008] 9 9 9 p24.1 4602076 4629102 + 4669566 4696594 + 4679566 4706594 + 1580863;6480464 18052042;15850399;19322201;12477932;11413142;8125298;17207965;15840729;22863883 55664 B1AL69;Q7L3B6 ABBA01065420;AK000497;AK000646;AK225510;AL136231;AMYH01019201;BC014133;CH471071;NM_017913 AAH14133;ADQ31696;BAA91206;BAA91304;EAW58782;NP_060383;Q7L3B6 Hs.666439 1644190;1857247;2114048;2116202;2189483 AB050415;MARC_7349-7350:992008364:1;RH15867;RH66324;WI-19289 CDC37B;FLJ20639;HARC;RP11-6J24.5 CDC37 cell division cycle 37 homolog-like 1;Hsp90-associating relative of Cdc37;OTTHUMP00000021001;OTTHUMP00000021002;cell division cycle 37 homolog (S. cerevisiae)-like 1;cell division cycle 37 homolog-like 1;hsp90 co-chaperone Cdc37-like 1 APPROVED protein-coding 17179 07120 610346 VALIDATED 6481123 CDC42-IT1 CDC42 intronic transcript 1 (non-protein coding) 100874292 AL031281 miscrna 41317 1312639 CDC27 cell division cycle 27 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eucaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and thus may be involved in controlling the timing of mitosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.32 42552625 42621664 - 45195310 45266665 - 1580863;6480464;6907045 16648845;17719540;11285280;7736578;14593737;15029244;10793135;11256614;11535616;11742988;12070128;10548110;11340163;17827148;16565220;16344560;15489334;15252450;14657031;15342556;12853486;12797865;12477932;12429948;12196507;11691834;11524682;10939594;10922056;10500174;10477750;10318877;10037602;9736712;9618490;9499405;9469815;9405394;8619132;8234252;7756179;12956947;14561775;15280373;17360335;17403670;17942546;18372912;18573889;19826003;20081372;20733055;21335556;21743465;21986944;22792066;10498862;15923616;18471975;18794143;21043528;21454540;21596315;22280307;9734353;23078409;15082755;15916961;11076961;12686615;16364912;17187060;17474147;17679094;18485873;18662541;18997788;19615732;20508983;9628895;9637688;9811605;18029348;16479161;22939629;21336306;12097298;16510875;21209074;23007861;23160376;23239745;23287467;23383273;19483727;22045814;22990118;23022380;18059335;20080579;21454660;9356466;21926987;19822757;20360068;20663873;20729194;20733051;20937767;21139048;21549307;21890473;21906983;22193957;19531213;21937719;22318606;22139841;11707408;17609108;19098431;20395298;21525009;22100920;16921029;23029392 996 B4DL80;E9PRZ6;F6QPS0;G5EA36;I3L1K3;I3L225;I3L2Z8;I3L328;I3L394;I3L3G1;I3L3H6;I3L3Y5;K7EMA6;P30260 ABBA01041118;AC002558;AK296881;AK299342;AMYH01008446;AU135593;AY518321;BC011656;BI548077;BP234964;CH471231;DQ786193;NM_001114091;NM_001256;S78234;U00001 AAA60471;AAB34378;AAH11656;AAR89911;ABM83706;ABM87026;BAG59442;BAG61343;EAW57686;EAW57687;EAW57688;EAW57689;NP_001107563;NP_001247;P30260 Hs.463295 1654709;1698594;1731643;1745951;1777373;1797374;1850225;1854755;2118278;2130713;2164144;2167197 A007J33;AI452358;CDC27_1878;D14S145;L18241;RH102849;RH46196;RH65445;STS-H82965;STS-S78234;T03706;WI-13636 ANAPC3;APC3;CDC27Hs;D0S1430E;D17S978E;HNUC;NUC2 CDC27 homolog;H-NUC;OTTHUMP00000232872;OTTHUMP00000232873;OTTHUMP00000232875;OTTHUMP00000232877;anaphase promoting complex subunit 3;anaphase-promoting complex subunit 3;anaphase-promoting complex, protein 3;cell division cycle 27;cell division cycle 27 homolog;cell division cycle protein 27 homolog;nuc2 homolog APPROVED protein-coding ENSG00000004897 1728 00304 116946 REVIEWED 1350948 CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) 11 11 11 q13.1 61917813 61938195 - 64348237 64368617 - 64591661 64612041 - 6480464 15194684;9341881;9253601;18029348;21903422;21906983;21768215 55561 Q6DT37 ABBA01024141;AMYH01003714;AP001187;AY648038;BI793270;CH471076;NM_017525;Y12337 AAT67172;CAA73006;EAW74316;NP_059995;Q6DT37 Hs.293590 1803104;1803178;1805088;1805918;1806048;1806498;1806500;1806854;1807334;1808486;1812706;1813778;1816606;1817832;1822146;1822212;1823488;1831144;1833726;1834960;1835344;1839058;1840134;1842956;1971422;1971424;1971426;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971452;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971472;1971474;1971476;1971478;1971480;1971482;1971484;1971486;1971488;1971490;1971492;1971494;1971496;1971498;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;1971548;1971550;1971552;1971554;1971556;1971558;1971560;1971562;1971564;1971566;1971568;1971570;1971572;1971574;1971576;1971578;1971580;1971582;1971584;1971586;1971588;1971590;1971592;1971594;1971596;1971598;1971600;1971602;1971604;1971606;1971608;1971610;1971612;1971614;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984;2214986;2214988;2214990 ECD02443;ECD02480;ECD03486;ECD03912;ECD03977;ECD04206;ECD04207;ECD04392;ECD04638;ECD05225;ECD07364;ECD07912;ECD09345;ECD09970;ECD12159;ECD12192;ECD12835;ECD16708;ECD18008;ECD18631;ECD18827;ECD20708;ECD21251;ECD22686;REN56595;REN56596;REN56597;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56610;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56620;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56627;REN56628;REN56629;REN56630;REN56631;REN56632;REN56633;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;REN56658;REN56659;REN56660;REN56661;REN56662;REN56663;REN56664;REN56665;REN56666;REN56667;REN56668;REN56669;REN56670;REN56671;REN56672;REN56673;REN56674;REN56675;REN56676;REN56677;REN56678;REN56679;REN56680;REN56681;REN56682;REN56683;REN56684;REN56685;REN56686;REN56687;REN56688;REN56689;REN56690;REN56691;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728;stSG635729;stSG635730;stSG635731 DMPK2;HSMDPKIN;KAPPA-200;MRCKG;MRCKgamma CDC42-binding protein kinase gamma;DMPK-like gamma;MRCK gamma;OTTHUMP00000042866;myotonic dystrophy kinase-related CDC42-binding kinase gamma;myotonic dystrophy protein kinase like protein;myotonic dystrophy protein kinase-like alpha;myotonic dystrophy protein kinase-like gamma;serine/threonine-protein kinase MRCK gamma protein-coding ENSG00000171219 29829 13013 613991 VALIDATED 1313428 CDC34 cell division cycle 34 The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008] 19 19 p13.3 482733 493087 + 531733 542087 + 1580863;6480464;6907045 12565873;14690596;15611064;22069333;21296085;17274640;8248134;19240061;19126550;18950845;18458088;17698585;17597759;17461777;16210246;16123592;15652359;15489334;14645576;12477932;12037680;11689688;11675391;11546811;11054541;10918611;10871850;10769200;10713156;10385629;10373550;10329681;9710583;9430629;9367342;8939846;19123975;10531035;10748083;11032804;18029348;19549727;19615732;19875449;19945379;20347421;20353940;20378537;20379614;12060736;14671314;23250430;23261596;23297342;17785450;19256485;22496338;22863883;19471022;22145905;22210895;20639865;20663873;21130766;21139048;21890473;21906983;21963094;22286100;22087249;22318606;14980219;18851830;19112177;22748924;8576261;18239684;23000965;23465077;23478441;23589337;23604317;23624912;11245432;11463388;11566883;12435635;12813041;12840033;14532120;14578910;15327770;16322693;16338364;16472766;16774918;16861890;16874460;17965458;19073596;19084516;19581926;19933270;20081843;20160477;20596027;20638939;20864041;21098119;21220517;21841822;22017877;22053931;22113614;22190037;22334663;22669845;22711876;22959436 997 P49427 ABBA01002568;AC011531;AC011556;AK291554;AMYH01009189;AY650399;BC002332;BC009850;BC018143;BC023979;BT006659;CH471242;L22005;NM_004359 AAC37534;AAH09850;AAH18143;AAH23979;AAP35305;AAT46688;ABM81664;ABM84836;ABM85578;BAF84243;EAW61190;EAW61191;NP_004350;P49427 Hs.514997 1690860;1730295;7184712 D19S236E;RH79792 E2-CDC34;UBC3;UBCH3;UBE2R1 cell division cycle 34;cell division cycle 34 homolog;ubiquitin carrier protein;ubiquitin-conjugating enzyme E2 R1;ubiquitin-conjugating enzyme E2-32 KDA complementing;ubiquitin-conjugating enzyme E2-CDC34;ubiquitin-protein ligase R1 APPROVED protein-coding ENSG00000099804 1734 00306 116948 REVIEWED 732258 CDC37 cell division cycle 37 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008] 19 19 p13.2 10362809 10375271 - 10501809 10514271 - 1580863;5131489;6480464 19934406 8666233;16280321;19091746;19073599;18931700;18922470;18089825;18003639;17728246;17223712;16949366;16611982;16381901;16156789;16132836;15850399;15647277;15592455;15489336;15489334;15082798;15001580;14743216;14718169;14701845;14668798;12930845;12907640;12489981;12477932;12437126;12176997;11916974;11864612;11413142;11256614;11085988;11076863;11036079;10858314;10617616;10022854;9685350;9242486;9150368;8885235;8703009;17353931;15643424;22674575;17054904;21833088;18029348;19615732;19858214;20056645;20159553;20299663;9660753;20562859;15344906;22863883;12471035;19875381;20462248;23383273;17620012;21367866;20811636;23402259;23455922;23569206;22199355;14676191;16196087;16306228;21487019;21871133;21875946;17709345;21675959;21151955;21860411;10409742;18781797;19026643;19786724;20305087;20663926;21139048;21890473;21900206;21903422;21906983;22315411;22727666;17979178;21360678;22810585;22912728;22939624;23000965;23281476;21163940;22939629;23128233;23428871;20642453;11867521;16321986;18359116;18367605;20697350;22451720;22612223;22729780;22952844 11140 K7EIU0;K7EJ06;K7EKQ2;K7EL68;K7EQA9;Q16543 ABBA01029932;AC011548;AC011557;AC134304;AMYH01009473;AY864824;BC000083;BC008793;BC127212;BC127213;BC141928;BC141929;BE796008;BT006796;CH471106;CR542249;NM_007065;U43077;U63131 AAB04798;AAB63979;AAH00083;AAH08793;AAI27213;AAI27214;AAI41929;AAI41930;AAP35442;AAW34362;ABM83100;ABM86295;CAG47045;CAL38163;CAL38227;EAW84101;EAW84102;EAW84103;NP_008996;Q16543 Hs.160958 1686044;2142520;2146513;2157739 D19S1108;RH101844;RH41901;RH80833 P50CDC37 CDC37 (cell division cycle 37, S. cerevisiae, homolog);CDC37 cell division cycle 37 homolog;cell division cycle 37 homolog;hsp90 chaperone protein kinase-targeting subunit;hsp90 co-chaperone Cdc37 APPROVED protein-coding ENSG00000105401 1735 05456 605065 REVIEWED 1351605 CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008] 1 1 q42.11 225244189 225572449 - 227177566 227505826 - 6480464 9092543;11283256;9418861;18263588;17344417;16710414;16412980;15723050;12568720;12477932;12018391;11929873;11340065;10958655;10947843;10737800;10652353;10559936;10198171;9455484;20936779;11399775;15194684;20188707;21457715;18854160;21139048;21906983;22318606;22505724 8476 F5H5N0;H0Y5V1;H0Y6R0;H0Y6V3;H0Y7V8;Q86XX3 AB007920;AB208968;ABBA01009619;ABBA01009620;ABBA01009621;ABBA01009622;AF250871;AJ518975;AJ518976;AK027000;AK130237;AL353689;AL451047;AL627308;AMYH01001779;AMYH01001780;AY166586;BC008677;BC038993;BC050335;BC127831;BC136333;BF765241;BQ232716;BX648219;BX648693;CH471098;CR933723;NM_003607;NM_014826;U59305 AAB37126;AAF66437;AAI36334;AAI56893;AAN86031;BAA32296;BAB15619;BAD92205;CAD57745;CAD57746;CAI45998;CAI46252;EAW69806;EAW69807;EAW69808;EAW69809;NP_003598;NP_055641;Q5VT25 Hs.35433 1645697;1662912;1668376;1684060;1691154;1718049;2134349;2135330;2146769;2148044;2178926;5015861;5015961;5020946;5021872;5022788;5037552;7185938;7187461 A007H16;BCD141;CDC42BPA;D10S16;D15S1477;D1S271E;D8S2279;L17971;RH122642;RH46341;RH91332;RH99156;SHGC-76429;SHGC-76431;SHGC-76450;STS-N23124;sY3084 DKFZp686L1738;DKFZp686P1738;FLJ23347;KIAA0451;MRCK;MRCKA;PK428 CDC42 binidng protein kinase beta;CDC42-binding protein kinase alpha (DMPK-like);DMPK-like alpha;MRCK alpha;OTTHUMP00000035727;OTTHUMP00000035728;OTTHUMP00000035729;OTTHUMP00000035730;myotonic dystrophy kinase-related CDC42-binding kinase alpha;myotonic dystrophy kinase-related CDC42-binding protein kinase alpha;myotonic dystrophy protein kinase-like alpha;ser-thr protein kinase PK428;ser-thr protein kinase related to the myotonic dystrophy protein kinase;serine/threonine-protein kinase MRCK alpha APPROVED protein-coding ENSG00000143776 1737 04562 603412 REVIEWED 1316032 CDC40 cell division cycle 40 Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008] 6 6 6 q21 111248290 111300016 + 110608317 110660116 + 110501624 110553423 + 1580863;6480464;6907045 12226669;19420964;17081983;15761153;15489334;14702039;14574404;12477932;11991638;11102353;9830021;9769104;9303539;8889548;8125298;7568168;9524131;20614026;21628590;20508642;20360068 51362 H0Y7P6;O60508;Q5SRM9;Q5SRN1 AB208903;ABBA01026120;ABBA01026121;AF015044;AF038392;AF061241;AK001426;AK222721;AK295055;AK314601;AL671518;AMYH01016588;BC111061;BC117145;BC126114;CB242479;CH471051;NM_015891 AAC25166;AAC39730;AAD01552;AAI11062;AAI17146;AAI26115;ADR83227;BAD92140;BAD96441;BAG37172;BAG58104;EAW48319;EAW48320;EAW48321;EAW48322;EAW48323;EAW48324;NP_056975;O60508 Hs.428147 1797376 CDC40_2301 EHB3;FLJ10564;MGC102802;PRP17;PRPF17 EH-binding protein 3;OTTHUMP00000016996;OTTHUMP00000016997;OTTHUMP00000040437;PRP17 homolog;cell division cycle 40 homolog;cell division cycle 40 homolog (yeast);hPRP17;pre-mRNA splicing factor 17;pre-mRNA-processing factor 17 APPROVED protein-coding ENSG00000168438 17350 05721 605585 REVIEWED 730976 CDC42 cell division cycle 42 The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013] 1 1 p36.1 22251707 22292023 + 22379120 22419436 + 2311087;2293876;2293879;5688276;2298583;5688277;6480464;5688271;5688273;5688274;5688272;5688275;6484113;6907045;7240533 19295123;8910292;9305638;15736231;17161586;10817927;21266780;19432938;18391128;19700661;17971488;20626350 21221794;11943145;11907271;11889037;11884513;11839748;11822867;11773441;11756552;11696321;11672528;11584276;11583574;11438723;11394904;11287617;11284700;11278572;11257000;11130076;10975523;10967094;10954711;10954424;10934474;10873802;10818149;10799524;10799501;10749885;10747870;10733591;10724160;10713100;10676816;10551883;10490598;10480361;10320322;10211824;10068673;10051605;11035016;10587647;10816584;11260256;11584266;16407834;19596003;19463088;19454477;19416857;19356586;19307303;19273597;19109421;19039103;19001128;18974134;18937283;18922799;18838868;18835169;18728402;18656530;18628988;18586681;18575765;18565850;14505571;18552504;18541705;18541478;18541383;18432521;18403635;18348980;18334926;18325348;18319301;18287089;18245474;18245386;18235104;18057010;18056353;18056264;18045877;17976533;17702745;17693642;17664338;17567985;17538024;17521326;17517067;17513786;17513457;17356711;17346701;17301947;17300218;17115031;17074883;17038317;16930532;16880514;16864657;16849480;16710414;16443932;16322481;16253996;16246732;16228294;16204230;16201754;16189514;16169070;15901767;15833843;15822942;15821030;15803130;15793569;15728253;15723050;15713627;15652341;15649357;15616194;15489334;15472119;15361624;15355962;15304341;15287724;15265891;15194684;15187089;15133042;15123662;15123659;15121898;15102814;15075243;15023524;14970210;14733946;14701795;14699061;14676191;14656933;14563854;12972601;12960248;12960245;12928366;12915445;12901880;12900413;12887923;12887922;12887916;12860998;12824775;12769846;12767056;12612085;12595527;12584113;12547822;12511425;12477932;12453877;12432077;12426222;12376551;12369824;12270144;12235133;12181570;12172552;12115629;12093730;12032833;12006984;11998687;11973651;11948177;9860974;9822598;9799233;9786927;9760238;9748241;9742969;9705280;9642115;9582072;9535835;9427749;9422512;9381982;9268338;9262406;9220962;9210375;9182573;9113980;9079650;8969170;8943016;8889548;8798539;8756646;8755667;8702968;8670801;8625410;8107774;8034624;7744004;7738010;7665558;7629060;7547927;7513047;2496687;2124704;2122236;1956381;1898776;16687395;16356860;10713183;8994833;14597672;10366564;11162552;17353931;10781580;12110184;9535855;8643625;12650940;9490022;9407060;12504591;11432776;11431473;12857875;12819203;12446789;10854437;14749388;15147912;15260990;14530271;12944407;15864311;15735674;12606577;15652748;12538863;22821962;22610502;20849862;21356349;20730103;20936779;21036919;20631255;21302623;20215637;20067638;20545942;20530489;20806065;15923648;10360578;10360579;10802735;11090627;12421766;12456510;12745076;12879077;15451670;15824104;15834156;16293614;16983070;17254974;19435802;19473971;19561083;19622753;19635823;19640983;19641023;19667218;19692568;19709124;19710257;19718053;19726670;19752396;19778949;19787194;19819966;19826000;19933840;19934222;20056178;20130240;20403997;7493928;9032261;9082982;9338791;9418861;9660763;9846874;22393238;14978216;21167153;20945370;21165582;21240187;15485837;21186079;21295525;23142484;22719838;22939629;23029280;23178712;23295348;21685891;15642749;22126964;20086093;21311754;15655247;22863883;21667996;21435037;22385474;18624398;21562048;21900206;21603851;21866627;22023324;21952626;22093623;21613211;21139048;21618528;21906983;23358418;19322201;22770822;22341450;22318733;22362774;22266952;22608513;11331876;23455922;23583380;22683270;10684602;16678097;20696164;11807099;22213037;11157984;15085137;21890473;21963094;21988832;23000965;23197258;15306850;15761153;18363964;21048939;21454543;22053931;22505724;22796473;22844345;22092654;22589722;22891260;23148235 998 E7ETU3;P60953;Q5JYX0 ABBA01059840;ABBA01059841;AF498962;AF498963;AK297465;AK303994;AK311375;AK316449;AL031281;AL121734;AL121735;AL121736;AL121737;AMYH01000345;AMYH01000346;AMYH01000347;AY673602;BC002711;BC003682;BC018266;BC018622;BM684474;BP871988;CH471134;CS026525;M35543;M57298;NM_001039802;NM_001791;NM_044472 AAA52494;AAA52592;AAH02711;AAH03682;AAH18266;AAM21109;AAM21110;AAT70721;ABM82121;ABM85303;BAG59887;BAG64911;BAH14820;CAB57325;CAB57326;CAB57327;CAB57328;CAI61729;EAW95002;EAW95003;EAW95004;EAW95005;EAW95006;EAW95007;EAW95008;EAW95009;NP_001034891;NP_001782;NP_426359;P60953 Hs.467637 1654175;1657167;1657536;1663614;1673147;1788930;1795530;1857514;2125588;2167461;5022651;5093618;5117995;5127213 A009S40;CDC42_1530;D11S2921;G15855;G22163;G32824;G34846;GDB:636131;RH69132;SHGC-12429;SHGC-57553;SHGC-74349;UniSTS:224478;WI-18965 CDC42Hs;G25K G25K GTP-binding protein;GTP binding protein, 25kDa;GTP-binding protein, 25kD;OTTHUMP00000002834;OTTHUMP00000002926;OTTHUMP00000002927;cell division control protein 42 homolog;cell division cycle 42 (GTP binding protein, 25kDa);dJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD));dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD));growth-regulating protein;small GTP binding protein CDC42 APPROVED protein-coding ENSG00000070831 1736 00309 116952 REVIEWED 1343898 CDC42P1 cell division cycle 42 pseudogene 1 20 20 20 q11.22 29739222 29740045 - 32453516 32454263 - 32989755 32990578 - 170503 ABBA01019198;AL356299;AMYH01011862;NG_001032;NG_023206 bK3216D2.3 pseudo 16339 INFERRED 2293180 CDC42P2 cell division cycle 42 pseudogene 2 7 7 7 p11.2 55808760 55809532 - 55673520 55674097 - 55705826 55706598 - 643336 ABBA01011859;AC099681;AMYH01017272;CH471201;NG_007652 EAW50974 2071716 REN107051 pseudo 33952 INFERRED 1351337 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008] 14 14 14 q32.3 83452838 83577854 - 102468469 102593495 - 103398716 103523742 - 6480464 10574461;17353931;9418861;18263588;17081983;15489334;12477932;12168954;10198171;20936779;21471979;14702039;20177145;20379614;21240187;18854160;22266860;21949762;21139048;21890473;21906983 9578 H0YLR5;H0YLY0;Q86XZ8;Q9Y5S2 AB032950;ABBA01048441;ABBA01048442;ABBA01048443;ABBA01048444;ABBA01048445;ABBA01048446;ABBA01048447;ABBA01048448;AF128625;AK094920;AK126684;AL117209;AL133455;AMYH01006039;AMYH01006040;AMYH01006041;BC047871;BC048261;BC155541;BX248752;BX647753;CH471061;DQ355971;NM_006035 AAD37506;AAH47871;AAH48261;AAI55542;AAI56937;ABC67469;BAA86438;CAD66559;EAW81800;EAW81801;NP_006026;Q9Y5S2 Hs.654634 1340418;1658840;1684417;1712284;1722857;1769685;2119742;2128248;2136705;2138743;2141141;2146110;2177253;5014051;5015619;5016478;5020946;5022200;5037552;5117897 D11S3114;D14S293;D8S2278;D8S2279;G24046;G35357;G35358;G35359;G35410;G35487;G35915;G36112;G54051;G60371;GDB:434012;GDB:631813;L17971;L18426;RH99029;SGC30775 DKFZp686H1431;FLJ37601;FLJ44730;KIAA1124;MRCKB CDC42-binding protein kinase beta (DMPK-like);CDC42BP-beta;DMPK-like beta;MRCK beta;myotonic dystrophy kinase-related CDC42-binding kinase beta;myotonic dystrophy protein kinase-like beta;serine/threonine-protein kinase MRCK beta APPROVED protein-coding ENSG00000198752 1738 08516 614062 REVIEWED 6904450 CDC42P3 cell division cycle 42 pseudogene 3 8 q24.3 144077327 144077899 + 16344560 100128627 ABBA01005279;AC105202;AMYH01019097;DA106474;NR_102426 pseudo 44427 VALIDATED 6904280 CDC42P4 cell division cycle 42 pseudogene 4 4 q25 110476326 110476885 + 100131440 ABBA01063777;AC105314;AMYH01014457;NG_022069 pseudo 44428 INFERRED 6904334 CDC42P6 cell division cycle 42 pseudogene 6 4 p15.2 22728045 22729646 - 10480361 643751 ABBA01032667;AC093917;AMYH01014056;CH471069;NG_008215 EAW92804;EAW92805;EAW92806 1335032;1335262;1339230;1644085;1654054;1668583;1673083;1706534;1714331;1716369;1716629;1718137;1719027;1722907;1723113;1728111;1730101;1730940;1763233;1778820;1784086;1785020;1787614;1855326;1857107;1857109;1857789;2110175;2110207;2114800;2121378;2122719;2123788;2132150;2133836;2136204;2147542;2147925;2156119;2167704;2180131;2182168;7183723;7183989 D10S2222;D4S1118;D4S1227;D4S1265;D4S1287;D4S1314;D4S1334;D4S1345;D4S2605;D4S2709;D4S2745;D4S2933;D4S2953;D4S326;D4S336;D4S425;D4S433E;D4S616;D4S812;D4S968;D4S972;G33991;G34202;G60548;G63327;L00811;RH119945;RH121364;RH121571;RH122836;RH123220;RH123742;SHGC-146964;SHGC-149745;SHGC-152689;SHGC-155986;SHGC-24823;SHGC-50645;SHGC-67794;SHGC-81240;stb108G15.p2;stb412P11.p1 APPROVED pseudo 44430 INFERRED 6904430 CDC42P5 cell division cycle 42 pseudogene 5 5 172512720 172513209 - 100507354 ABBA01044031;AC008378;AMYH01015822;NG_030075 pseudo 44429 INFERRED 1321045 CDC42EP2 CDC42 effector protein (Rho GTPase binding) 2 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011] 11 11 11 q13 62408688 62416256 + 64838907 64846476 + 65082289 65089900 + 1580863;6480464 16344560;15489334;14702039;12477932;10490598;9253601;11035016;10430899;11584266;16395716;18541383;20936779;20934684;18029348 10435 O14613 ABBA01024129;AF001436;AF098290;AF163840;AF548903;AK098292;AK315444;AMYH01003718;AP000944;BC022337;BC075834;BT020004;CH471076;DA251345;NM_006779 AAB81206;AAD16185;AAD48784;AAH22337;AAH75834;AAN39381;AAV38807;ABM82914;ABM86104;BAG37832;BAG53607;EAW74374;NP_006770;O14613 Hs.343380;Hs.741371 1775102;2136419 RH11951;STS-Z39767 BORG1;CEP2 CRIB-containing BOGR1 protein;OTTHUMP00000231608;binder of Rho GTPases 1;cdc42 effector protein 2 APPROVED protein-coding ENSG00000149798 16263 09363 606132 REVIEWED 1322427 CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21758351 21767271 + 36286446 36295358 + 37956471 37965412 + 1580863;6480464 11035016;18029348;17081983;16344560;16189514;15574879;15489334;15461802;15345747;12665801;12477932;10591208;10490598;10430899;1629197;20936779;23383273;21139048;21890473 11135 B0QYC6;B0QYC7;B0QYC8;Q00587 ABBA01055473;AK292190;AL022315;AMYH01012753;BC009356;CH471095;CR456524;DA047271;M88338;NM_152243 AAA36606;AAH09356;ABM84385;ABM87281;BAF84879;CAG30410;CAK54555;CAK54854;EAW60164;EAW60165;EAW60166;NP_689449;Q00587 Hs.225356 1671438;2159285 STS-M88338;STS-R52295 BORG5;CEP1;MGC15316;MSE55 55 kDa bone marrow stromal/endothelial cell protein;OTTHUMP00000197884;binder of Rho GTPases 5;cdc42 effector protein 1;serum constituent protein;serum protein MSE55 APPROVED protein-coding ENSG00000128283 17014 07303 606084 REVIEWED 1314141 CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3 This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 2 2 2 p21 37711639 37740219 - 37724247 37752830 - 37869025 37899678 - 6480464 16466844;16908841;17173092;17692555;22451153;22681909;16344560;11035016;11256614;17081983;16381901;16189514;16169070;15815621;15489336;15489334;15345747;14702039;12477932;11584266;11230166;11076863;10490598;9535835;18541383;20936779;21116278;20385374;20881960;21139048 10602 C9J7F7;C9JEZ4;C9JKW5;Q9UKI2 ABBA01074984;AC006369;AF094521;AF104857;AF164118;AK055915;AK128735;AK313483;AL136842;AL538577;AL567387;AMYH01010262;AMYH01010263;BC019270;BQ067953;BQ432066;BT007190;CH471053;DB121680;HY003915;HY017509;NM_001270436;NM_001270437;NM_001270438;NM_006449 AAC71773;AAD16888;AAD48815;AAH19270;AAP35854;AAX93072;BAG36267;BAG54721;CAB66776;CAL38536;EAX00390;NP_001257365;NP_001257366;NP_001257367;NP_006440;Q9UKI2 Hs.369574 1658167;1734250;1771998;1850615;2151669;2175875;2218350 CDC42EP3_4534;D2S1501E;D2S1680E;RH12830;RH16633;RH67826;WI-13652 BORG2;CEP3;FLJ46903;UB1 CRIB-containing BORG2 protein;MSE55-related Cdc42-binding protein;MSE55-related protein;OTTHUMP00000126964;OTTHUMP00000201951;OTTHUMP00000203201;OTTHUMP00000203202;binder of Rho GTPases 2;cdc42 effector protein 3 APPROVED protein-coding ENSG00000163171 16943 09364 606133 REVIEWED 1318117 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5 Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg (binder of Rho GTPases) family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to CDC42 and regulate its function negatively. The encoded protein may inhibit c-Jun N-terminal kinase (JNK) independently of CDC42 binding. The protein may also play a role in septin organization and inducing pseudopodia formation in fibroblasts [provided by RefSeq, Jul 2013] 19 19 19 q13.42 52016789 52024999 - 59668022 59676234 - 54976210 54984422 - 6480464 11035016;15489334;12477932;11584266;10490598;16344560 148170 Q6NZY7 ABBA01068156;ABBA01068157;AC008746;AI379873;AMYH01009976;BC024327;BC065910;CH471135;CU207370;CU467002;DA867588;NM_145057 AAH24327;AAH65910;EAW72252;NP_659494;Q6NZY7 Hs.415791 1815740;1827794;1834306;1846402;2043824;2043826;2043828;2043830;2043832;2043834;2043836;2043838;2043840;2043842;2043844;2043846;2043848;2043850;2043852;2043854;2043856;2043858;2043860;2043862;2043864;2043866;2043868;2043870;2043872;2043874;2043876;2043878;2043880;2043882;2043884;2043886;2043888;2043890;2043892;2043894;2043896;2104000;2104002;2104004;2104006 ECD08908;ECD15019;ECD18301;ECD24421;REN92963;REN92964;REN92965;REN92966;REN92967;REN92968;REN92969;REN92970;REN92971;REN92972;REN92973;REN92974;REN92975;REN92976;REN92977;REN92978;REN92979;REN92980;REN92981;REN92982;REN92983;REN92984;REN92985;REN92986;REN92987;REN92988;REN92989;REN92990;REN92991;REN92992;REN92993;REN92994;REN92995;REN92996;REN92997;REN92998;REN92999;stSG606088;stSG606089;stSG606090;stSG606091 Borg3;CEP5;MGC21945;MGC71153 1700027J19Rik;2010007O02Rik;OTTHUMP00000068391;binder of Rho GTPase 3-like;binder of Rho GTPases 3;cdc42 effector protein 5 APPROVED protein-coding ENSG00000167617 17408 13023 609171 REVIEWED 1323093 CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4 The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008] 17 17 17 q24-q25 67862911 67891275 - 68791358 68819738 - 71279763 71308143 - 1580863;6480464 17207965;11035016;17081983;16189514;15761153;15489334;15226823;14702039;12477932;11185749;10490598;22889411;20936779;17643375;18029348;21832049;21139048;21906983;19322201;23383273 23580 B2R6D8;B3KUS7;J3KRZ9;J3QQS6;J3QR93;Q9H3Q1 AB042237;ABBA01028865;ABBA01028866;ABBA01028867;AC087301;AF099664;AK027385;AK097835;AK312536;AL162074;AMYH01008619;BC002774;BC010451;BE387060;BI560730;CH471099;NM_012121 AAD16299;AAH02774;AAH10451;ADQ32045;BAB17272;BAG35435;BAG51313;BAG53539;EAW89123;EAW89124;NP_036253;Q9H3Q1 Hs.3903 1342376;1694826;1847226;2182024;5016438 A002D24;D17S757;G19982;RH121912;SHGC-11717 BORG4;CEP4;KAIA1777;MGC17125;MGC3740 binder of Rho GTPases 4;cdc42 effector protein 4 APPROVED protein-coding ENSG00000179604 17147 08383 605468 REVIEWED 1346360 CDC42SE1 CDC42 small effector 1 1 1 1 q21.3 124138756 124147427 - 149290071 149298749 - 151023447 151032125 - 1580863;6480464 10816584;15840583;15342556;12477932;18541383;20936779;12421766;18029348;21139048;19322201 56882 Q9NRR8 ABBA01049368;AF187845;AF286041;AF286592;AL590133;AMYH01001386;BC012796;BC041604;BP340339;BX339337;CH471121;NM_001038707;NM_020239 AAF87597;AAF97248;AAG17723;AAH12796;AAH41604;ABM85120;EAW53477;EAW53478;EAW53479;NP_001033796;NP_064624;Q9NRR8 Hs.22065 1647969;1687191;1687928;1689057;1851755;1853444 RH69823;RH79564;RH93368;RH98209;SHGC-37116;WI-17680 SCIP1;SPEC1 1300002M12Rik;CDC42 small effector protein 1;CDC42-binding protein SCIP1;OTTHUMP00000033118;signaling molecule SPEC1 beta;small effector of CDC42 protein 1;small protein effector 1 of Cdc42 protein-coding ENSG00000197622 17719 16694 VALIDATED 1343863 CDC42SE2 CDC42 small effector 2 5 5 5 q31.1 126730097 126860712 + 130627601 130758282 + 130599702 130730383 + 1580863;6480464 10816584;18804346;17030554;16344560;15840583;12477932;9110174;8619474;19322201;16712791;18029348;21906983;21987572 56990 D6REL0;H0Y9W5;Q9NRR3 ABBA01068826;ABBA01068827;ABBA01068828;ABBA01068829;ABBA01068830;ABBA01068831;AC004777;AC008497;AC009016;AC114275;AF131831;AF189692;AI440226;AK025620;AK312406;AMYH01015609;AMYH01015610;BC023555;BC050430;BC058909;BC096703;BC096738;BC098349;BI460220;BI522591;CB135092;CH471062;DA321488;NM_001038702;NM_020240 AAF87598;AAH96703;AAH96738;AAH98349;BAG35319;EAW62372;EAW62373;NP_001033791;NP_064625;Q9NRR3 Hs.508829;Hs.713870 1671925;1673440;1688566;1693730;1739331;2135415;2137051;2146091;2151950;2154417;2178183;2184079;5037552;5093672 A008N05;A009U40;D5S1427;D5S1804E;D8S2279;G32856;RH12501;RH16185;RH46287;RH47655;RH99239;SHGC-34691;SHGC-58802;WI-17021 FLJ21967;SPEC2 CDC42 small effector protein 2;OTTHUMP00000222550;OTTHUMP00000222551;non-kinase Cdc42 effector protein SPEC2;small effector of CDC42 protein 2 protein-coding ENSG00000158985 18547 16695 VALIDATED 1319341 CDC6 cell division cycle 6 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008] 17 17 q21.3 35697672 35712939 + 38444146 38459413 + 6480464;6907045;7240710 15887248;8990175;10995389;15232106;9566895;10339564;10436018;11095689;11125146;11931757;12045100;15226314;15707391;19520769;19343071;19321444;19233139;19189662;19107233;19101572;19074885;18640135;18617514;18458079;18397887;18259842;18048387;18006835;17689530;17567951;16801388;16572177;16439999;16055707;15696126;15590906;15489334;14749377;14672932;14517333;12912926;12614612;12554670;12538639;12477932;12429841;12151338;12006585;11846807;11779870;11346650;11046155;10899308;10629059;10464337;10214964;9925618;9889196;9857179;9778043;9774682;9520412;15050687;18162579;15684404;15861133;10766737;22523071;20606534;20800603;21041660;21048031;12791985;18761675;19154794;19950599;20048340;16428461;19462008;21358632;21088490;22871742;20813683;23011157;21383955;14701726;20360068;22201124;22223646;21906983;21963094;21519187;22262174;23479742;22589552;21988832;22094256;23129444;22974333;22179839 990 J3KTI7;J3QLN7;J3QR52;Q99741 AA210818;AB010492;ABBA01031832;ABBA01031833;AC080112;AF022109;AJ009560;AK313620;AMYH01008384;AY150310;BC025232;BE296640;BE548194;BF203219;CH471152;CQ789346;NG_028240;NM_001254;U77949 AAB38317;AAC52071;AAH25232;AAN10296;ABM83766;ABM87086;BAG36382;CAG24445;EAW60650;EAW60651;NP_001245;Q99741 Hs.405958 1665410;1791398;1795532;2175706 CDC6_1451;PMC109252P1;RH70424;STS-U77949 CDC18L;HsCDC18;HsCDC6 CDC18 (cell division cycle 18, S.pombe, homolog)-like;CDC6 cell division cycle 6 homolog;CDC6-related protein;OTTHUMP00000164449;cdc18-related protein;cdc6 cell division cycle 6 homolog (s. cerevisiae);cell division control protein 6 homolog;cell division cycle 6 homolog;cell division cycle 6 protein;p62(cdc6) APPROVED protein-coding ENSG00000094804 1744 04022 602627;613805 REVIEWED 1352573 CDC45 cell division cycle 45 The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q11.21 17847416 17888135 + 19467414 19508135 + 1580863;6480464;6907045 10518787;12791985;9660782;18029348;15226314;15707391;19074885;19054765;18347181;18239674;17887956;17767920;17608804;17573775;17557111;17046832;16912045;15489334;15461802;15232106;12975309;12614612;12477932;10051334;9914182;9724329;18247557;21145461;16341674;19805216;20065034;20124417;20379614;16902406;21383955;23390603;11850621;20818375;21149733;15753125;22474384;15174051;21963094;21988832;23000965;21139048;21890473;21906983;22147708;22536402;22053931;22505724 8318 C9J911;C9K087;H7BZ91;O75419 ABBA01005411;AC000082;AC000087;AC000088;AF053074;AF062495;AF081535;AJ223728;AK293123;AK293338;AK302590;AK303274;AMYH01012479;AY358971;AY572790;BC006232;BC010022;BM751026;BT006792;CH471176;CT841513;HY016491;JA893796;NM_001178010;NM_001178011;NM_003504 AAC27289;AAC67521;AAD08998;AAH06232;AAH10022;AAP35438;AAQ89330;AAS66985;ABM83577;ABM84716;ABM86816;ABM92238;BAG56675;BAG56854;BAG63843;BAG64354;CAA11530;CAJ86443;CAK54407;CAK54706;CCV01316;EAX03036;NP_001171481;NP_001171482;NP_003495;O75419 Hs.474217;Hs.742418 1712022;2112464;2112468;2112474;2112498;2123825;5093798 A009W46;D22S1618;D22S1619;D22S1622;D22S1664;G32930;RH118685 CDC45L;CDC45L2;PORC-PI-1 CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like;CDC45 cell division cycle 45 homolog;CDC45 cell division cycle 45-like;CDC45-related protein;OTTHUMP00000197247;OTTHUMP00000197248;cell division control protein 45 homolog;cell division cycle 45 homolog;cell division cycle 45-like 2;human CDC45 APPROVED protein-coding ENSG00000093009 1739 09145 603465 REVIEWED 731949 CDC5L cell division cycle 5-like The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008] 6 6 p21 44463280 44522758 + 44355251 44418161 + 6480464;6907045 21628590;22763110;8917598;18722174;18029348;19240061;18583928;18567798;18330920;17353931;17081983;16216881;15489334;15324660;15232106;14729942;14702039;14576297;14574404;14515018;12927788;12477932;12168954;11991638;11544257;11329013;11101529;11082045;10827081;10570151;9731529;9632794;9598309;9468527;9455477;9038199;17332742;20467437;16159877;19454010;20211142;16223718;17276391;21145461;16332694;17148452;19633697;19641227;21036905;21385873;23084401;20176811;21536736;20508642;22990118;12840015;20595234;21081666;16341674;20360068;15660529;22446626;15840729;17043677;19596686;21139048;21693764;21890473;21906983;19471022;21907836;22939629;23022480;22174317;22944692;21988832;22365833;22751105;22941190 988 Q99459 AB007892;ABBA01050639;AK128737;AK299738;AL133262;AL353588;AMYH01016322;AMYH01016323;AMYH01016324;AY518540;BC001568;BG187521;BG497404;BM829346;CH471081;D85423;DC422730;NM_001253;U86753 AAB61210;AAH01568;AAR89913;ABM82549;ABM85740;BAA20885;BAA24862;BAG54722;BAG61633;EAX04270;NP_001244;Q99459 Hs.485471 1854384;2134189;2150816;2150818;2190521;2191153;5109663;5118444 A001V05;D11S3316;D7S2067E;EST15C11;G19678;MARC_15357-15358:1017682310:1;STS-R38882;WI-19876 CDC5;CDC5-LIKE;CEF1;KIAA0432;PCDC5RP;dJ319D22.1;hCDC5 CDC5 (cell division cycle 5, S. pombe, homolog)-like;CDC5 cell division cycle 5-like;Cdc5-related protein;Cell division cycle 5, S. pombe, homolog-like;OTTHUMP00000016529;cell division cycle 5-like (s. pombe);cell division cycle 5-like protein;dJ319D22.1 (CDC5-like protein);pombe cdc5-related protein APPROVED protein-coding ENSG00000096401 1743 04184 602868 REVIEWED 1353399 CDCA6 cell division cycle associated 6 BG354579 14627 1318070 CDC7 cell division cycle 7 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008] 1 1 p22 91739032 91763902 + 91966404 91991321 + 1580863;6480464;6907045 15232106;12791985;9405610;17102137;9250678;10846177;15226314;15707391;19647517;19278428;19111665;19054765;18714392;18625709;18286467;17711849;17062569;17046832;16899510;16864800;16826239;16710414;16446360;16344560;16082200;15668232;15489334;15474462;15466207;12614612;12477932;12065429;11568184;10523313;10373557;9573348;8889549;19318489;19426592;19864417;19896697;20548946;20421204;21098111;20647475;20707412;16912045;20819778;18084324;21307088;21832049;21536671;22318606;21139048;21906983;17927916;22574151;21963094;21988832;22806309;22528513;16954377;23066029 8317 B1AMW7;B2R6V2;J3KQS2;O00311 AB003698;AB209337;ABBA01045565;AC021075;AC098691;AF005209;AF015592;AI672674;AK298963;AK312726;AL355871;AMYH01000790;AY312583;AY585721;BC110526;BC110527;BC111044;CH471097;DA127303;DA791490;N62245;NM_001134419;NM_001134420;NM_003503 AAB97512;AAC52080;AAI10527;AAI10528;AAI11045;AAR16187;AAS79323;BAA19962;BAD92574;BAG35599;BAH12913;EAW73114;EAW73115;NP_001127891;NP_001127892;NP_003494;O00311 Hs.533573 1665487;1692366;2106985 AL034044;CDC7_7915;SHGC-36224 CDC7L1;HsCDC7;Hsk1;MGC117361;MGC126237;MGC126238;huCDC7 CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1;CDC7-related kinase;OTTHUMP00000011788;cdc7 cell division cycle 7 (s. cerevisiae);cell division cycle 7 homolog;cell division cycle 7-like protein 1;cell division cycle 7-related protein kinase APPROVED protein-coding ENSG00000097046 1745 10345 603311 REVIEWED 1345166 CDCA3 cell division cycle associated 3 12 12 12 p13 8575256 8577742 - 6828253 6830686 - 6957972 6960456 - 6480464 16189514;15733861;14702039;12679038;12477932;12188893;9074930;8723724;20416077;22839099;21832049;22939629;21139048;19159283;20581839;21988832;23219899;15070733 83461 B2R749;F5GX58;J3KMY0;Q99618 ABBA01017662;AK092246;AK291421;AK312843;AMYH01004209;BC002551;BC036512;CD106434;CH471116;CS185564;NM_031299;U47924 AAB51327;AAH02551;AAH36512;BAF84110;BAG35696;CAJ42745;EAW88728;EAW88729;NP_112589;Q99618 Hs.524216 FBXO52;GRCC8;MGC2577;TOME-1 OTTHUMP00000239926;OTTHUMP00000239927;OTTHUMP00000239928;OTTHUMP00000239929;cell division cycle-associated protein 3;gene rich cluster, C8;gene-rich cluster protein C8;trigger of mitotic entry 1;trigger of mitotic entry protein 1 protein-coding ENSG00000111665 14624 09670 607749 VALIDATED 1322226 CDCA2 cell division cycle associated 2 8 8 8 p21.2 24278060 24326920 + 25372428 25421342 + 25316513 25365425 + 6480464 16492807;14702039;12477932;12188893;20379614;20188555;16998479;18029348;21514157;21820363;21900206;19471022;21139048;21555454;21890473;22801782 157313 E9PEI0;Q69YH5 ABBA01005564;AC103779;AK092164;AK098670;AK292505;AK299278;AL833396;AL833627;AMYH01018582;BC015691;BC036214;BC063651;BC085609;BC104450;BC104451;BG354575;BG716934;BM802460;BX649008;NM_152562;R95735 AAH36214;AAH63651;AAH85609;AAI04451;AAI04452;BAC05374;BAF85194;BAG52490;BAH12991;CAH10577;CAH10585;NP_689775;Q69YH5 Hs.33366 1688142;1854196;2119822 RH91580;SHGC-36250;WI-11501 FLJ25804;MGC129906;MGC129907;Repo-Man OTTHUMP00000125276;OTTHUMP00000225069;cell division cycle-associated protein 2;protein phosphatase 1 [gamma] (PPP1R3A) binding protein Repo-Man;recruits PP1 onto mitotic chromatin at anaphase protein protein-coding ENSG00000184661 14623 13014 VALIDATED 1323393 CDC73 cell division cycle 73 This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009] 1 1 q25 191357784 191487679 + 193091088 193223945 + 6480464 16630820;17113272;19474519;19351817;19136632;19081034;19058032;19017757;18987311;18755853;18687124;18436011;18338208;18217513;18080135;17923126;17555500;17404568;17314275;17138574;17130827;16989776;16728578;16710414;21240254;16448924;16116486;16061557;15956079;15923622;15635413;15632063;15613436;15580289;15531515;15489334;15070940;15046109;15046107;15046105;15046102;15046098;15046094;15046050;14985403;14985373;14715834;14702039;14585940;12960210;12477932;12434154;11951180;11318611;8125298;7717405;16169070;20304979;20541447;21717873;16307923;17643375;18469135;19169472;19332451;20026646;20480190;22187299;22451921;22532828;20052758;21360064;22863883;22932087;21315421;20541477;21221636;23029479;20178742;21652691;21692036;21732217;21900206;21726809;21139048;21693764;21890473;21906983;21963094;19471022;20305087;22021426;20301744;22589738;22939629;23166327;19805454;23000965;22505724;22987117;23029104 79577 B4DV47;Q6P1J9 ABBA01027636;AF312865;AI638120;AK026969;AK226038;AK300929;AK314772;AL139133;AL390863;AMYH01001593;BC007325;BC013075;BC014351;BC065037;BM471846;BU428536;CH471067;DC298135;NG_012691;NM_024529 AAG45339;AAH07325;AAH14351;AAH65037;ACE86624;ACE87305;BAB15608;BAG37309;BAG62559;EAW91250;NP_078805;Q6P1J9 Hs.378996 1644406;1644987;1652837;1666626;1712835;1739003;1746457;1847671;1847722;2118010;2118012;2174600;2219024;2219816;5017873;5092902 A005A18;A009C03;AL009959;B3GALT2_4411;CDC73;D1S2239;D1S2534;G20261;G32402;G64641;HRPT2__6588;RH120134;SGC32835;SHGC-37629;SHGC-76070;SHGC-76074 C1orf28;FLJ23316;HPTJT;HRPT2;HYX OTTHUMP00000033765;Paf1/RNA polymerase II complex component;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog;cell division cycle protein 73 homolog;hyperparathyroidism 2 protein;parafibromin APPROVED protein-coding ENSG00000134371 16783 09581 607393 REVIEWED 1348557 CDCA4 cell division cycle associated 4 This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulaton of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, Sep 2008] 14 14 14 q32.33 85530125 85541645 - 104547318 104558538 - 105475910 105487425 - 6480464 18572021;18498124;16984923;15489334;15146197;14702039;12477932;12188893;11482882;17141982;19156129;21906983;19322201 55038 Q9BXL8 ABBA01008850;ABBA01008851;AF322239;AK000771;AK303947;AL512356;AL512802;AMYH01006073;BC011736;BC025263;BG354577;BG703331;CH471061;CN427719;NM_017955;NM_145701 AAH11736;AAH25263;AAK31075;ABM84334;ABM87725;BAA91373;BAG64875;EAW81894;EAW81895;EAW81896;EAW81897;NP_060425;NP_663747;Q9BXL8 Hs.34045 2109121 CDCA4_9866 FLJ20764;FLJ52878;HEPP;MGC19517;SEI-3/HEPP OTTHUMP00000244376;OTTHUMP00000244377;cell division cycle-associated protein 4;hematopoietic progenitor protein APPROVED protein-coding ENSG00000170779 14625 13015 612270 REVIEWED 1350338 CDCA5 cell division cycle associated 5 11 11 11 q12.1 62171226 62177913 - 64601503 64608100 - 64844927 64851615 - 1580863;6480464 15837422;17361102;17349791;17081983;16964243;15489334;15146197;14702039;12477932;12188893;16169070;20379614;11111111;18029348;20551060;21115494;22939629;20360068;21987589;21890473;22833568 113130 B5MBX0;H0YCL8;H0YCR8;H0YCT9;H0YCZ9;Q3C1X4;Q96FF9 ABBA01024136;AK093670;AK291490;AL832526;AMYH01003716;AP003068;BC011000;CH471076;CN332525;NM_080668 AAH11000;ABM84177;ABM87579;BAF84179;BAG52747;EAW74342;EAW74343;NP_542399;Q96FF9 Hs.434886 1653407;2158742 A002B21;WI-21617 MGC16386;SORORIN OTTHUMP00000230376;OTTHUMP00000230378;cell division cycle-associated protein 5;p35;sororin protein-coding ENSG00000146670 14626 13016 609374 VALIDATED 1603885 CDCP2 CUB domain containing protein 2 1 1 1 p32.3 52892335 52907106 - 54377256 54392031 - 54604668 54619443 - 17388942;12477932 200008 Q5VXM1 ABBA01074727;AL357673;AMYH01000632;CH471059;CQ725837;NM_201546 AAI41441;EAX06701;NP_963840;Q5VXM1 CUB domain-containing protein 2;OTTHUMP00000009800 protein-coding ENSG00000157211 27297 14122 612320 PROVISIONAL 1319671 CDCA7 cell division cycle associated 7 This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q31 167832966 167847127 + 173927807 173941964 + 174219561 174233718 + 6480464 11598121;16580749;16344560;15994934;15815621;15489334;14702039;12477932;12188893;8125298;17207965;19454010;21832049;22505724;23166294 83879 B4DLP8;B4DV66;F8WBA7;Q9BWT1 ABBA01020752;AC092573;AK027628;AK027642;AK075134;AK223524;AK297097;AK297245;AK300949;AL833728;AL834186;AMYH01011272;AMYH01011273;AY029179;BC015124;BC027966;CH471058;DA531905;NM_031942;NM_145810 AAH15124;AAH27966;AAK31591;AAX82003;ADQ32287;BAB55245;BAB55258;BAC11425;BAD97244;BAG59610;BAG59725;BAG62578;CAH56253;CAH56357;EAX11158;EAX11159;EAX11160;EAX11161;NP_114148;NP_665809;Q9BWT1 Hs.470654 1739017;2145950;2171723;2187235 D2S1876;RH36259;RH36440;WIAF-2093 FLJ14722;FLJ14736;JPO1;MGC34109 OTTHUMP00000163138;OTTHUMP00000163139;OTTHUMP00000205094;OTTHUMP00000205095;c-Myc target JPO1;cell division cycle associated protein 7;cell division cycle-associated protein 7 APPROVED protein-coding ENSG00000144354 14628 09874 609937 REVIEWED 1601855 CDCP1 CUB domain containing protein 1 This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 p21.31 45098773 45162918 - 45123769 45187914 - 6480464 22457534;19077003;18483744;18483259;18467693;18269919;17785447;17335815;16926850;16404722;16007225;15851033;15489334;15153610;14739293;14702039;12975309;12799299;12660814;12477932;11466621;8647901;20372833;20501830;19318475;19671673;19916495;20551327;21220330;21189288;21233420;23300860;21994943;21490433;21559459;21812858;16823897;19349359;21617380;22315226;21706059;21725358;21906983;15174051;23378636 64866 Q9H5V8 ABBA01024733;AC104165;AC105902;AF468010;AK023834;AK026187;AK026329;AK026622;AK314441;AMYH01013126;AY026461;AY167484;AY358779;AY375452;BC021099;BC069254;CD367582;CH471055;NM_022842;NM_178181 AAH21099;AAH69254;AAI48606;AAI53170;AAK02058;AAO33397;AAO34538;AAQ89139;AAR21289;BAB14695;BAB15388;BAB15511;EAW64737;EAW64738;NP_073753;NP_835488;Q9H5V8 Hs.476093 1691074;1756919;5024761 RH36905;RH91971;SHGC-144084 CD318;SIMA135;TRASK CUB domain-containing protein 1;OTTHUMP00000164120;OTTHUMP00000209568;membrane glycoprotein gp140;subtractive immunization M plus HEp3-associated 135 kDa protein;transmembrane and associated with src kinases APPROVED protein-coding ENSG00000163814 24357 16696 611735 REVIEWED 3436175 CDH12P1 cadherin 12 (N-cadherin 2) pseudogene 1 5 5 q13.2 70191865 70192166 - 70156110 70156411 - 7731968 100093625 AC139834;AMYH01015399;NG_007328 pseudo 37698 INFERRED 1344160 CDH12P2 cadherin 12 (N-cadherin 2) pseudogene 2 5 5 q13.1 69316783 69317083 - 69280926 69281427 - 10369862;7731968 1011 AC004999;AC139277;AC146335;AMYH01015399;NG_007326 C41-CAD;CDH12P APPROVED pseudo 1752 INFERRED 3436176 CDH12P3 cadherin 12 (N-cadherin 2) pseudogene 3 5 q13.2 69428502 69428803 + 7731968 100093624 AC139494;AC140134;AMYH01015250;NG_007327 pseudo 37699 INFERRED 3436174 CDH12P4 cadherin 12 (N-cadherin 2) pseudogene 4 5 5 q13.2 70464572 70464873 + 70428816 70429117 + 7731968 100093626 AC145138;AC146335;AMYH01015400;NG_007329 pseudo 37700 INFERRED 1602109 CDCA7L cell division cycle associated 7-like 7 7 7 p15.3 21926218 21971211 - 21907044 21952031 - 21940517 21985542 - 6480464 17669426;17081983;16829576;16735438;16728402;16565220;15994933;15654081;15489334;14702039;12853948;12690205;12477932;7829101;16344560;22318606;17207965;18029348;20189936;19454010;21890473;21906983;19322201;21654740;22505724 55536 A8K8X5;C9IZR6;C9J8L0;C9JFL7;H7C1J6;Q8IXN5 AA922229;AACC02000007;ABBA01056686;ABBA01056687;AC074379;AC099653;AK022955;AK095965;AK292490;AK300781;AL359619;AL576822;AMYH01017105;AY161168;AY161169;BC009352;BC014630;BC025242;BC032576;BC039823;BI493265;BU753973;BX112809;BX422040;CH236948;CH471073;DA041070;DC331792;NM_001127370;NM_001127371;NM_018719 AAH09352;AAH14630;AAH25242;AAH32576;AAH39823;AAO17570;AAO17571;AAS02007;ADQ33006;BAB14330;BAF85179;BAG53177;BAG62445;CAB94887;EAL24271;EAW93740;EAW93741;EAW93742;EAW93743;EAW93744;NP_001120842;NP_001120843;NP_061189;Q96GN5 Hs.520245;Hs.744069 1688809;2137585 RH65966;RH75427 DKFZp762L0311;JPO2;R1;RAM2 OTTHUMP00000158537;OTTHUMP00000201868;OTTHUMP00000225272;cell division cycle-associated 7-like protein;transcription factor RAM2 protein-coding ENSG00000164649 30777 11481 609685 VALIDATED 1346860 CDCA8 cell division cycle associated 8 This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013] 1 1 p34.3 37930746 37947978 + 38158073 38175391 + 6480464 16239925;16291752;18946085;18311593;17956729;17881355;17716930;17483322;17241471;16571674;16565220;16547492;16436504;16427043;15635413;15561729;15489334;15260989;15249581;14702039;12477932;12188893;8125298;18243099;18591255;19530738;19710015;19951914;20739936;18029348;17207965;20803554;20562864;17099693;20360068;21554500;21139048;21906983;19322201;22724069;21988832;23000965;22797924;20929775 55143 Q53HL2 ABBA01023270;AC104336;AK001330;AK022104;AK022606;AK026423;AK222549;AK222568;AK291917;AK302116;AMYH01000502;AY508815;BC000703;BC001651;BC008079;BC016944;CH471059;NM_001256875;NM_018101 AAH00703;AAH01651;AAH08079;AAH16944;AAR91699;ADQ31660;BAA91629;BAB13961;BAB14125;BAD96269;BAD96288;BAF84606;BAG63495;EAX07324;EAX07325;NP_001243804;NP_060571;Q53HL2 Hs.524571 1653375;1678027;2119301;2219052 CDCA8_4535;RH66677;RH93640;SHGC-56435 BOR;BOREALIN;DasraB;FLJ10468;FLJ12042;MESRGP Dasra B;OTTHUMP00000004514;OTTHUMP00000004515;borealin;cell division cycle-associated protein 8;dasra-B;hDasra-B;pluripotent embryonic stem cell-related gene 3 protein APPROVED protein-coding ENSG00000134690 14629 13017 609977 REVIEWED 1350088 CDH10 cadherin 10, type 2 (T2-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. [provided by RefSeq, Jan 2011] 5 5 5 p14.2 24372049 24530965 - 24522967 24680668 - 24487209 24645085 - 1580863;6480464 19404256;12389209;10861224;10386616;2059658;16169070;12477932;16344560;19456320;20379614;7806582;8889549;9219219;22846907;23279374 1008 D6RJG0;Q9Y6N8 AA209467;AB035303;ABBA01066629;ABBA01066630;AC010387;AC091885;AMYH01014974;AMYH01014975;BC144168;BM126883;CH471118;DA229466;NM_006727 AAI52829;AAI56819;BAA87417;EAX10742;NP_006718;Q9Y6N8 Hs.92489 1673338;1682265;1725235;1785502;1788974;1795534;2151041 CDH10_5;G65564;HSC1GA082;RH118910;RH12465;RH79643;SHGC-153792 OTTHUMP00000115830;OTTHUMP00000220799;T2-cadherin;cadherin-10 APPROVED protein-coding ENSG00000040731 1749 05187 604555 REVIEWED 1351773 CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008] 16 16 q21 63538184 63713420 - 64980683 65155919 - 1580863;6480464 22267545;17474147;8163513;19339270;19133007;18821672;18708358;18575746;18359978;18193170;17292535;16651616;15743489;15509545;15383628;14985702;14625392;12477932;11775026;10760957;10550312;10398117;10320525;10029089;9615235;9520111;7982033;2059658;22139084;19274078;19996288;20379614;7806582;9219219;23162011;21798287;21536877;21990376;21722156;22374749 1009 H3BP26;H3BPQ2;H3BQB5;H3BQH2;H3BR78;H3BSM4;H3BUU9;P55287 AB209760;ABBA01025387;ABBA01025388;AC010533;AC137643;AF060369;AF060370;AK291251;AK294872;AK297377;AK308000;AMYH01007731;BC013609;CH471092;D21254;D21255;L34056;NG_029491;NM_001797 AAA35622;AAD27755;AAD27756;AAH13609;ADZ15485;BAA04798;BAA04799;BAD92997;BAF83940;BAG59819;BAH11907;EAW83000;EAW83001;EAW83002;NP_001788;P55287 Hs.116471 1339102;1662222;1673354;1713585;1730155;1738785;1753695;1850001;2152888;2172012;2185066;2217138 CDH11_3314;D16S2861;D16S2936E;D16S3050;D16S3228;D16S3238;D16S438E;RH120288;RH68896;SHGC-10595;SHGC-107626;SHGC-7105 CAD11;CDHOB;OB;OSF-4 OB-cadherin;OTTHUMP00000174770;OTTHUMP00000174771;cadherin-11;osteoblast cadherin APPROVED protein-coding 1750 08960 600023 REVIEWED 737413 CDH1 cadherin 1, type 1, E-cadherin (epithelial) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] 16 16 q22.1 67328696 67426945 + 68771195 68869444 + 1599556;1599548;1599549;1580863;2289479;2289488;2289491;2289492;2289494;2289497;2289447;2289450;2289487;2289489;2289490;2289493;2289498;2289638;2289457;2296046;2296045;2289683;5132892;5132878;5132890;6480464;6484113;6907045;7240710;7242059 16329148;15831593;17167984;18183597;18008331;17760743;17660459;18035404;15785075;18225549;18213475;18056176;17906660;17894941;17656222;17649807;17295234;18210882;18097581;18295959;16837908;20495078;21540309;16924102;15203750 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443;22767590;22770219;23122825;23261830;23322209;23410973;23070965;23244126;23341533;22573479;22752307;23339695;22535324;22576709;22799630;16125672;22330421;22411584;22685614;23047512;23065281;23067217;23093058;23298185;23671930;21781454;22886823;22912891;23029385;23042269;23160376;22792244;22967445;23355201;22158034;22426463;22780949 999 H3BNC6;H3BVI7;J3QKP1;P12830;Q9UII8 AB025105;AB025106;ABBA01025502;ABBA01025503;ABBA01025504;ABBA01025505;AC099314;AI890107;AK290012;AK297913;AK309703;AK311198;AK312551;AMYH01007762;AMYH01007763;BC013851;BC141838;BC144283;BC146662;CH471092;D49685;DQ090940;EU709494;L08599;L34545;L34789;NG_008021;NM_004360;S72492;X12790;X52279;Z13009;Z18923;Z35402 AAA21764;AAA61259;AAD14108;AAI41839;AAI46663;AAY68225;ACD87624;BAA08537;BAA88956;BAA88957;BAF82701;BAG35448;BAG60232;CAA31279;CAA36522;CAA78353;CAA79356;CAA84586;EAW83242;EAW83243;EAW83244;EAW83245;NP_004351;P12830 Hs.461086 1646704;1683090;1685189;1688634;1743611;1765829;1769104;1773113;1792000;1792042;1792044;1792046;1792048;1792050;1794912;1795542;1852424;2114571;5022578;5022651;5120566;5120568;5120570;5120572;5120574;5120576;5120578;5120580;5120582;5120584;5120586;5120588;5492113 A008N17;CDH1_96.2;Cdh1;D11S2921;D1S1423;GDB:361044;GDB:361074;GDB:361084;GDB:361089;GDB:361093;GDB:361098;GDB:361103;GDB:361109;GDB:361113;GDB:361120;GDB:361125;GDB:361128;GDB:361131;PMC134726P1;PMC135805P1;PMC135805P2;PMC135805P3;PMC135805P4;PMC135805P5;PMC84611P1;RH64967;RH64971;RH65826;RH68244;RH91417;SHGC-149254;SHGC-33499;STS-T85105 Arc-1;CD324;CDHE;ECAD;LCAM;UVO CAM 120/80;E-Cadherin;OTTHUMP00000174868;cadherin 1;cadherin 1, E-cadherin (epithelial);cadherin-1;calcium-dependent adhesion protein, epithelial;cell-CAM 120/80;epithelial cadherin;uvomorulin APPROVED protein-coding ENSG00000039068 1748 01885 114480;137215;167000;176807;192090;608089 REVIEWED 1343875 CDH12 cadherin 12, type 2 (N-cadherin 2) This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Jul 2008] 5 5 5 p14.3 21615397 22740089 - 21786911 22889488 - 21750973 22853731 - 1580863;6480464 14702039;12477932;10861224;10191097;9615235;9122206;7982033;7731968;7545953;2059658;1436057;19473719;19557197;19567891;20379614;20453000;7806582;9219219;21573496;23502783 1010 B7Z2U6;P55289 ABBA01066575;ABBA01066576;ABBA01066577;ABBA01066578;ABBA01066579;ABBA01066580;ABBA01066581;ABBA01066582;ABBA01066583;ABBA01066584;ABBA01066585;ABBA01066586;ABBA01066587;ABBA01066588;ABBA01066589;ABBA01066590;ABBA01066591;ABBA01066592;ABBA01066593;ABBA01066594;ABBA01066595;ABBA01066596;ABBA01066597;ABBA01066598;ABBA01066599;ABBA01066600;ABBA01066601;ABBA01066602;ABBA01066603;AC022139;AC026716;AC034239;AC091938;AC093263;AC108089;AC109455;AC138854;AC138940;AC139497;AC140132;AC140171;AK092176;AK295123;AK314800;AMYH01014966;AMYH01014967;AMYH01014968;BC047608;CH471118;L33477;L34057;NM_004061;Z16831 AAA35623;AAB48539;AAH47608;ACE86767;ACE87453;BAG37328;BAG52492;BAH11982;EAX10734;EAX10735;EAX10736;NP_004052;P55289 Hs.113684 1334571;1338782;1677776;1682646;1683493;1684317;1689720;1704616;1713963;1718249;1725095;1748557;1748875;1749653;1750043;1761383;1785714;1785762;1795536;1849063;2162375;2162918;2171540;5119187;5123780;7184436;7185013 AFM225yc5;CDH12_520;D5S2845;D5S411;D6S1498;G10554;G16049;RH118843;RH119411;RH122894;RH26926;RH46723;RH70218;RH70898;RH71451;RH83560;SGC31172;SHGC-110162;SHGC-110541;SHGC-111335;SHGC-111727;SHGC-145400;SHGC-31574;SHGC-77883;SHGC-79735;SHGC-83455 CDHB;FLJ34857 Br-cadherin;N-cadherin 2;OTTHUMP00000115709;OTTHUMP00000220833;OTTHUMP00000225066;brain cadherin;brain-cadherin;cadherin, neural type, 2;cadherin-12;neural type cadherin 2;neuronal cadherin 2 2292817 MAMTS101_H APPROVED protein-coding ENSG00000154162 1751 11081 600562 REVIEWED 1353127 CDH15 cadherin 15, type 1, M-cadherin (myotubule) This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008] 16 16 q24.3 87765664 87789401 + 89238163 89261900 + 1580863;6480464;7240710 9545347;19012874;15489334;12634428;12477932;12052883;11136230;11058098;10861224;9615235;9168809;9030594;8059975;1840697;1427864;19851296;20198315;7806582;9219219;15923648;21906983 1013 P55291 ABBA01014160;ABBA01014161;ABBA01014162;ABBA01014163;AC009113;AK308631;AMYH01007926;AMYH01007927;AW452260;BC008951;CH471184;D83542;NG_012055;NM_004933 AAH08951;ABM84203;ABM87607;BAA12012;EAW66741;EAW66742;NP_004924;P55291 Hs.148090 1679854;1766277 RH80776;SHGC-149631 CDH14;CDH3;CDHM;MCAD;MRD3 OTTHUMP00000175347;cadherin-14;cadherin-15;cadherin-3;muscle cadherin;muscle-cadherin APPROVED protein-coding ENSG00000129910 1754 00225 114019;612580 REVIEWED 1323200 CDH16 cadherin 16, KSP-cadherin This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 16 16 q22.1 65499526 65510267 - 66942025 66952887 - 1580863;6480464 9721215;18343407;17895753;15886705;15670782;15489334;15023525;12975309;12851251;12477932;10828602;10409308;8125298;7615566;22028439 1014 H3BSG2;H3BSV3;I3L418;J3QLA1;O75309 ABBA01025423;AC009084;AF016272;AI733140;AK075243;AK225544;AK225552;AK298255;AK298334;AK313101;AMYH01007744;AY358911;BC027912;BI759247;CH471092;DC361453;NM_001204744;NM_001204745;NM_001204746;NM_004062 AAC34255;AAH27912;AAQ89270;ABM84733;ABW03631;BAG35925;BAG60520;BAG60583;EAW83050;EAW83051;EAW83052;NP_001191673;NP_001191674;NP_001191675;NP_004053;O75309 Hs.513660 KSP-cadherin;OTTHUMP00000174814;OTTHUMP00000174815;cadherin-16;kidney-specific cadherin APPROVED protein-coding ENSG00000166589 1755 11929 603118 REVIEWED 1316200 CDH19 cadherin 19, type 2 This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012] 18 18 18 q22.1 60889278 60989190 - 62322301 62422196 - 64168424 64271375 - 1580863;6480464 12975309;12477932;10995570;10861224;9615235;7566098;12118382;18184143;18364357;20358601 28513 F8VVI9;J3KTP3;J3QS15;Q9H159 AA331759;ABBA01056249;ABBA01056250;AC090393;AC091643;AF047826;AJ007607;AK304000;AK315257;AMYH01009065;AY358654;BC015877;CH471096;NM_001271028;NM_021153;NR_073130 AAC05117;AAH15877;AAQ89017;BAG64917;CAC13126;EAW63178;NP_001257957;NP_066976;Q9H159 Hs.42771 1340491;1661202;1715377;2167019;2172770;2218354 CDH19_4537;D18S857;RH120521;RH65744;SHGC-32555;STS-N26740 CDH7;CDH7L2 OTTHUMP00000163687;cadherin-19 APPROVED protein-coding ENSG00000071991 1758 04311 603016 REVIEWED 733806 CDH17 cadherin 17, LI cadherin (liver-intestine) This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 8 8 q22.1 95208566 95289986 - 95139394 95229531 - 1580863;6480464 8153632;18552820;18353622;18342884;17828401;16951245;16344560;15701831;15302935;15279905;15178443;12824888;12477932;11413113;11337467;11193569;10191097;9615235;603017;15023525;21323956;23053896;20398667;20204409;20568120;19676131;19736353;19956853;20500517;20444732;20580775;22810971;20393816;22286087;22009269;22791949 1015 B2R778;E5RJT3;E7EN24;H0YBL0;Q12864 ABBA01037448;ABBA01037449;ABBA01037450;ABBA01037451;AI566493;AK130441;AK300638;AK301001;AK312873;AMYH01018884;AMYH01018885;AMYH01018886;AP003351;AP003478;AU098586;BC112013;BC113464;BF591263;BX483700;CH471060;CS223371;DB009107;NM_001144663;NM_004063;U07969;X83228 AAA19021;AAI12014;AAI13465;ADR83433;BAG35725;BAG62327;BAG62620;CAA58231;CAJ46925;EAW91708;NP_001138135;NP_004054;Q12864 Hs.591853 1712987;1721157;1795538;2120168;2133112;2177639;2185418;5017433;5094356 CDH17_522;D8S1071;D8S1083;G54631;G59414;RH120584;SGC35251;STS-T76997;STS-X83228 CDH16;FLJ26931;HPT-1;HPT1;MGC138218;MGC142024 HPT-1 cadherin;LI cadherin;LI-cadherin;OTTHUMP00000226595;OTTHUMP00000226596;OTTHUMP00000226597;cadherin 17;cadherin-16;cadherin-17;human intestinal peptide-associated transporter HPT-1;human peptide transporter 1;intestinal peptide-associated transporter HPT-1;liver-intestine cadherin APPROVED protein-coding ENSG00000079112 1756 04312 603017 REVIEWED 1313454 CDH18 cadherin 18, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008] 5 5 5 p14.3 20134951 20650014 - 19508898 20017046 - 19473140 19988353 - 1580863;6480464 12477932;10861224;10207020;10191097;9030594;16344560;20180417;20379614;7806582;9219219;20800221;21906983 1016 D6RER2;D6RIH8;H0YAK3;Q13634 ABBA01054547;ABBA01054548;ABBA01054549;ABBA01054550;ABBA01054551;ABBA01054552;ABBA01054553;AC025173;AC093221;AC108128;AC113397;AC118463;AK289547;AK295087;AK308745;AMYH01014952;AMYH01014953;BC031051;BI549773;CA425592;CH471168;DA368944;NM_001167667;NM_004934;U59325 AAB02933;AAH31051;ABM84477;ABM84862;BAF82236;BAG58128;EAW68851;NP_001161139;NP_004925;Q13634 Hs.317632 1711282;1749533;1750425;1750627;1771603;1779778;1785600;1795540;2125532;2127367;2132033;2173988;5022651 AFM207ya5;CDH18_1706;D11S2921;L28235;RH65419;RH70681;SHGC-111238;SHGC-111736;SHGC-111917;SHGC-153750;SHGC-155303;SHGC-89290;WI-16265 CDH14;CDH14L;CDH24;EY-CADHERIN OTTHUMP00000115690;OTTHUMP00000220998;OTTHUMP00000220999;OTTHUMP00000221000;OTTHUMP00000221001;OTTHUMP00000221002;cadherin-14;cadherin-18;cadherin-like 24;ey-cadherin APPROVED protein-coding ENSG00000145526 1757 04314 603019 REVIEWED 734374 CDH13 cadherin 13, H-cadherin (heart) This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] 16 16 q23.3 81218079 82387702 + 82660399 83830215 + 734735;1580863;734736;2293014;2298985;2293540;2293542;2293546;2298986;2298987;2293544;2293539;2293543;2293545;2293553;2293555;6480464 8673923;9737784;18094410;18519763;18316604;17764565;17971904;17623056;10493953;17029216;18387661;17548682;11389090;12376824;11326751 10601632;16013438;15703273;14729458;15816843;17573778;10737605;15364621;16099944;16873731;9650591;19368692;19336575;19304780;19199263;19165155;19116147;18821565;18729198;18627351;18553387;18550521;18519826;18425332;18411300;18349282;7982033;2059658;18337602;18264096;17967182;17960794;17903302;17873891;17765896;17094449;17077306;16602701;16344560;16335952;16273386;16222700;16133358;15821437;15489334;15292927;15251938;15210937;15146197;14997203;14750164;14718574;14579115;12697869;12489108;12477932;12177241;12067979;12060406;11642747;11027617;9852687;9615235;9468307;21298366;22321935;22065538;17554300;18029348;18656243;18839057;18957941;19463088;19581569;19638398;19726744;19799609;19955471;20039275;20039365;20090771;20121546;20125193;20161066;20189936;20201926;20379614;20446882;7806582;9219219;20732627;20195266;20694014;20800221;20887962;20876611;21071540;15489335;17874043;21331343;21502573;8889548;22695491;20030915;21252481;21710692;21771975;22952603;21672320;21872196;21815997;22235028;21900206;23502783;22479202;21796503;22414547;23369463;23069940;23149075;23358160;23382691;21617638;22592160;22105624 1012 B7Z3H7;B7Z590;B7Z9B1;F5H7W7;H3BQH4;H3BRL7;H3BTF2;H3BV21;P55290 AB001103;ABBA01016933;ABBA01016934;ABBA01016935;ABBA01016936;ABBA01016937;ABBA01016938;ABBA01016939;ABBA01016940;ABBA01016941;ABBA01016942;ABBA01016943;ABBA01016944;ABBA01016945;ABBA01016946;AC009028;AC009063;AC009119;AC009142;AC087189;AC092340;AC092351;AC098804;AC099506;AC106814;AC125793;AI802411;AK294277;AK295886;AK298612;AK304592;AK304733;AK307862;AMYH01007857;AMYH01007858;AMYH01007859;AMYH01007860;AMYH01007861;AMYH01007862;AMYH01007863;AMYH01007864;AU123178;BC012615;BC028624;BC030653;BG911233;BI756586;BU162665;BU627784;CA445317;CB321814;CF618908;CH471114;CK725094;CN263227;CV024366;DA561809;DA685616;DB003683;DC376661;EU190357;EU190358;L34058;NM_001220488;NM_001220489;NM_001220490;NM_001220491;NM_001220492;NM_001257;R41787;U59288 AAA35624;AAB18911;AAH28624;AAH30653;ABM82639;ABM85816;ABW97440;ABW97441;BAA32411;BAH11722;BAH12213;BAH12826;BAH14221;BAH14247;EAW95515;NP_001207417;NP_001207418;NP_001207419;NP_001207420;NP_001207421;NP_001248;P55290 Hs.654386;Hs.661776 1336667;1337228;1339247;1645306;1662748;1666902;1678081;1686756;1700346;1704654;1704684;1705934;1715585;1716651;1723271;1732762;1733510;1738501;1738611;1738671;1738715;1744775;1751115;1755997;1758741;1764341;1766719;1766729;1777005;1779934;1783432;1795240;1849796;1851522;2130048;2142674;2148665;2165670;5021890;7186138 AFMB338ZB1;CDH13_7;D16S2641;D16S2692;D16S2756;D16S2789;D16S2820;D16S2949;D16S3091;D16S402;D16S422;D16S735;D6S961;DXS7657;G17933;GDB:568474;RH103793;RH120935;RH121582;RH122324;RH65167;RH92366;SHGC-105014;SHGC-142813;SHGC-147944;SHGC-149995;SHGC-151059;SHGC-152003;SHGC-154183;SHGC-156033;SHGC-30008;SHGC-37041;SHGC-53490;SHGC-60721;SHGC-61168;SHGC-77957;SHGC-78198;SHGC-78995;ha2207 CDHH;P105 H-cadherin;P105;T-cad;T-cadherin;cadherin 13;cadherin-13;heart cadherin;heart-cadherin;truncated cadherin;truncated-cadherin APPROVED protein-coding ENSG00000140945 1753 03219 601364 REVIEWED 732591 CDH22 cadherin 22, type 2 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008] 20 20 20 q13.1 41513832 41591744 - 44235783 44313741 - 44802376 44880334 - 69804;1580863;6480464 8626716 12477932;11780052;18602983;12630923;9110174;8619474;20650312;19440036;19546606;23314748 64405 A8K0L9;Q49AS4;Q9UJ99 ABBA01052674;ABBA01052675;ABBA01052676;ABBA01052677;AF035300;AK289584;AL031687;AMYH01011941;AMYH01011942;BC031232;BC039056;BC136526;BQ102264;CH471077;NM_021248 AAB88183;AAH31232;AAI36527;BAF82273;EAW75754;EAW75755;NP_067071;Q9UJ99 Hs.472861 1659970;1775835;7187616 SHGC-31223;WI-21844 C20orf25;MGC39564;dJ998H6.1 OTTHUMP00000031774;PB-cadherin;cadherin 22;cadherin-22;cadherin-like 22;ortholog of rat PB-cadherin;pituitary and brain cadherin APPROVED protein-coding ENSG00000149654 13251 13018 609920 REVIEWED 1313468 CDH20 cadherin 20, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008] 18 18 18 q21.33 55875642 55940232 + 57308755 57373345 + 59157775 59222365 + 6480464 14702039;12477932;10995570;19690890;20379614;23251661 28316 K7ESP2;Q9HBT6 ABBA01056186;ABBA01056187;ABBA01056188;AC006203;AC090409;AF217289;AK094366;AK290190;AK313809;AMYH01009045;BC101047;BC101048;BC101049;CH471096;NM_031891 AAG23739;AAI01048;AAI01049;AAI01050;BAC04340;BAF82879;BAG36545;EAW63108;NP_114097;Q9HBT6 Hs.671510 2218356 CDH20_4538 CDH7L3;Cdh7;FLJ37047 OTTHUMP00000163656;cadherin-20 APPROVED protein-coding ENSG00000101542 1760 10429 605807 REVIEWED 1353170 CDH24 cadherin 24, type 2 14 14 14 q11.2 3378962 3389437 - 22586709 22594875 - 23516270 23526747 - 1580863;6480464 12975309;12734196;12477932;16169070;7806582;9219219 64403 Q86UP0 ABBA01061304;AK025342;AK057922;AK289576;AK307746;AL132780;AL137477;AMYH01005602;AY260900;AY260901;AY358199;BC009332;BC019067;BC069190;BC094810;BC110867;BC142724;BX110381;BX248303;BX248750;CH471078;DC310509;NM_022478;NM_144985 AAH94810;AAI10868;AAI72283;AAI72574;AAP20590;AAP20591;AAQ88566;BAB15116;BAB71613;BAF82265;CAB70758;CAD62630;CAD66557;EAW66189;EAW66190;EAW66191;EAW66192;NP_071923;NP_659422;Q86UP0 Hs.155912 1847807 WI-20153 CDH11L;FLJ25193;MGC131880 OTTHUMP00000027927;OTTHUMP00000164553;OTTHUMP00000245977;cadherin-24;cadherin-like 24 APPROVED protein-coding ENSG00000139880 14265 13019 VALIDATED 731820 CDH2 cadherin 2, type 1, N-cadherin (neuronal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein functions during gastrulation and is required for establishment of left-right asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic adhesion is mediated at least in part by this gene product. [provided by RefSeq, Jul 2008] 18 18 q11.2 23784933 24011189 - 25530930 25757445 - 734737;1580863;1582675;6480464;6484113;6907045 7502046;16515795 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1000 A8MWK3;C9J126;C9J8J8;C9JMH2;P19022 AA661623;ABBA01022551;ABBA01022552;AC006249;AC015933;AC110015;AI675151;AI752179;AI752180;AK302831;AMYH01008909;AW016710;BC021695;BC036470;BG197310;BX648579;CH471088;CN263272;DA225616;EF444966;JA438438;JA611023;M34064;NG_011959;NM_001792;S42303;X54315;X57548;Z27420 AAA03236;AAB22854;AAH36470;ACA05964;ACE86888;ACE87575;BAH13814;CAA38213;CAA40773;CAA81799;CCD32808;CCE25962;EAX01239;EAX01240;EAX01241;NP_001783;P19022 Hs.464829;Hs.606106 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16118;REN16119;REN16120;REN16121;REN16122;REN16123;REN16124;REN16125;REN16126;REN16127;REN16128;REN16129;REN16130;REN16131;REN16132;REN16133;REN16134;REN16135;REN16136;REN16137;REN16138;REN16139;REN16140;REN16141;REN16142;REN16143;REN16144;REN16145;REN16146;REN16147;REN16148;REN16149;REN16150;REN16151;REN16152;REN16153;REN16154;REN16155;REN16156;REN16157;REN16158;REN16159;REN16160;REN16161;RH120696;RH121160;RH121194;RH121795;RH123058;RH123269;RH16571;RH27115;SHGC-33512;SHGC-79153;stSG624241;stSG624242;stSG624243;stSG624244;stSG624245;stSG624246;stSG624247;stSG624248;stSG624249;stSG624250;stSG624251;stSG624252;stSG624253;stSG624254;stSG624255;stSG624256;stSG624259;stSG624260;stSG624261;stSG624264;stSG624265;stSG624266;stSG624267;stSG624268;stSG624269;stSG624270;stSG624272;stSG624273;stSG624275;stSG624276;stSG624277;stSG624278;stSG624279;stSG624280;stSG624281;stSG624283;stSG624284;stSG624285;stSG624288;stSG624289;stSG624290;stSG624291;stSG624292;stSG624293;stSG624294;stSG624295;stSG624296;stSG624297;stSG624298;stSG624299;stSG624300;stSG624301;stSG624302;stSG624303;stSG624304;stSG624305;stSG624306;stSG624307;stSG624308;stSG624309;stSG624310;stSG624312;stSG624313;stSG624315;stSG624316;stSG624317;stSG624318;stSG624320;stSG624321;stSG624322;stSG624324;stSG624325;stSG624326;stSG624327;stSG624328;stSG624329;stSG624330;stSG624331;stSG624332;stSG624333;stSG624335;stSG624336;stSG624337;stSG624338;stSG624339;stSG624340;stSG624341;stSG624342;stSG624343;stSG624344;stSG624345;stSG624346;stSG624347;stSG624348;stSG624349;stSG624351;stSG624352;stSG624354;stSG624355;stSG624357;stSG624358;stSG624359;stSG624360;stSG624361;stSG624362;stSG624363;stSG624365;stSG624366;stSG624368;stSG624369;stSG624370;stSG624371;stSG624372;stSG624373;stSG624374;stSG624375;stSG624376;stSG624377;stSG624378;stSG624379;stSG624380;stSG624381;stSG624382;stSG624383;stSG624384;stSG624385;stSG624386;stSG624387;stSG624388;stSG624389;stSG624390;stSG624391;stSG624392;stSG624394;stSG624395;stSG624396;stSG624397;stSG624398;stSG624399;stSG624400;stSG624401;stSG624402;stSG624403;stSG624404;stSG624405;stSG624406;stSG624408;stSG624409;stSG624410;stSG624411;stSG624412;stSG624413;stSG624414;stSG624415;stSG624416;stSG624417;stSG624419;stSG624420;stSG624421;stSG624422;stSG624424 CD325;CDHN;CDw325;NCAD N-cadherin 1;OTTHUMP00000066304;OTTHUMP00000067378;cadherin 2;cadherin 2, N-cadherin (neuronal);cadherin-2;calcium-dependent adhesion protein, neuronal;neural cadherin;neural-cadherin APPROVED protein-coding ENSG00000170558 1759 00226 114020 REVIEWED 1323191 CDH26 cadherin 26 Cadherins are a family of adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization and migration. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This gene encodes a cadherin domain-containing protein whose specific function has not yet been determined. Alternative splicing occurs at this locus and two transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 55274111 55328792 + 57966877 58021563 + 58533471 58588168 + 6480464 14702039;12477932;11780052;10835267;16344560;19824886;20379614 60437 H7BY79;Q8IXH8;Q9NTY2 AA454986;ABBA01005956;AF169690;AK055202;AK074477;AL109928;AMYH01012029;BC062570;BC136306;BC143931;CH471077;DB218314;NM_021810;NM_177980 AAF89687;AAH62570;AAI36307;BAB85093;BAG51485;EAW75417;EAW75418;EAW75419;EAW75420;EAW75421;EAW75422;EAW75423;NP_068582;NP_817089;Q8IXH8 Hs.729046 1670301;1673022;1691246;1720757;2182222;2218358 CDH26_4539;D20S759;G59352;RH94129;SHGC-54233;Z94635 VR20 OTTHUMP00000031432;OTTHUMP00000031433;OTTHUMP00000174474;OTTHUMP00000174475;cadherin-like 26;cadherin-like protein 26;cadherin-like protein VR20 APPROVED protein-coding ENSG00000124215 15902 13020 REVIEWED 733851 CDH23 cadherin-related 23 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013] 10 10 q22.1 72826697 73245710 + 73156691 73575704 + 737781;704405;1580863;704404;6480464;7240710 12910270 12522556;12485990;11138009;16679490;19297620;19268276;18484607;18429043;18368581;18348277;18323324;18273900;17850630;17672918;16598924;16550584;15882574;15829536;15660226;15537665;14702039;12975309;12588794;12477932;12407180;12075507;11857743;11597768;11386759;11347906;11138008;11090341;8894709;8889548;8817348;2706105;16344560;16385451;18957941;19683999;20379614;20801516;20498078;17234811;20844544;22879593;21940737;20301442;20301607;22424883;22413011;20467438;22951725;19756182;23451239;23641064;22581638;22899989 64072 A5D6V9;B1AVV0;G3XCN8;G8JLI8;Q5QGS1;Q5QGS5;Q5QGS6;Q6P152;Q8N5B3;Q9H251;R4GN22;R4GN92 AB053445;AB058715;ABBA01019639;AC012469;AF312024;AK074160;AK093818;AL122081;AL359183;AL731541;AL772287;AMYH01002816;AMYH01002817;AY010111;AY358617;AY563161;AY563162;AY563165;AY563166;BC011570;BC032581;BC065284;BC108254;BC136976;BC136977;BC139903;BM673126;BU728250;CH471083;DB333699;NG_008835;NM_001171930;NM_001171931;NM_001171932;NM_001171933;NM_001171934;NM_001171935;NM_001171936;NM_022124;NM_052836 AAG27034;AAG48303;AAH11570;AAH32581;AAH65284;AAI08255;AAI36977;AAI36978;AAI39904;AAQ88980;AAT72161;AAT72162;AAT72165;AAT72166;ADZ15527;BAB47441;BAB61902;BAB84986;BAC04231;CAB59256;EAW54426;EAW54427;EAW54428;EAW54429;EAW54430;EAW54431;EAW54432;NP_001165401;NP_001165402;NP_001165403;NP_001165404;NP_001165405;NP_001165406;NP_001165407;NP_071407;NP_443068;Q9H251 Hs.656032 1335402;1337296;1342220;1342232;1659716;1706220;1709402;1726707;1730998;1731409;1759431;1767001;1782082;2127052;2132063;2132065;2138594;2144039;2144317;2160811;2164609;5022578;5037552;5094838;5105871;5127925;7188002;7189445;7189447 CDH23;D10S1650;D10S1694;D10S2338;D10S338;D10S412;D10S584;D10S606;D1S1423;D8S2279;G62740;GDB:313461;RH44693;RH45898;RH48031;SGC38181;SHGC-151188;SHGC-151195;SHGC-152305;SHGC-152620;SHGC-154025;SHGC-80642;SHGC-81728;STS-N39237;STS-R80211;STS-W72919 CDHR23;DFNB12;DKFZp434P2350;FLJ00233;FLJ36499;KIAA1774;KIAA1812;MGC102761;USH1D OTTHUMP00000020837;OTTHUMP00000020838;cadherin related 23;cadherin-23;cadherin-like 23;cadherin-related family member 23;otocadherin APPROVED protein-coding ENSG00000107736 13733 05699 601067;601386;605516 REVIEWED 1353368 CDH3 cadherin 3, type 1, P-cadherin (placental) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy. [provided by RefSeq, Jul 2008] 16 16 q22.1 67236277 67290443 + 68678151 68732957 + 1600806;1600801;1580863;6480464;7240710 15771627;15805154 19076794;19043399;18927288;18829530;18811693;18637128;18637117;18330089;18329483;18230143;18199584;18074863;17342797;16115928;16007225;15967043;15817166;15489334;15375751;15146197;12919105;12876286;12800191;12477932;12445216;12417987;12112590;12021924;11909859;11891861;11889072;11544476;11401672;11106563;11066045;10655458;10381631;9815605;9615235;9359492;9250159;8660921;8227214;8125298;8074995;8056851;7538474;7534041;2793940;2702654;1924379;1427864;10910767;20338046;20203473;10460003;19469909;19528483;19846933;19901964;19915572;20118984;20204300;7806582;9219219;20844743;20860798;20385540;20473917;19882246;20621328;20668551;22696062;20852590;23143461;20140736;23334344;21317933;21703417;22348569;19850743;21906983;23180380;22209340;22389315;22531681;21781454 1001 J3KRQ1;J3KTE9;J3QKW6;J3QL41;J3QL75;J3QR34;J3QR60;P22223 ABBA01025495;ABBA01025496;ABBA01025497;ABBA01025498;ABBA01025499;AC099314;AC126773;AI149268;AK225396;AK296968;AK312554;AMYH01007758;AMYH01007759;BC014462;BC041846;BQ945506;BU543746;CA489015;CA489338;CA489357;CH471092;CN365479;CS174724;NG_009096;NM_001793;X63629;X95824 AAH14462;AAH41846;ACE86889;ACE87576;BAG35451;BAG59512;CAA45177;CAA65093;CAJ34555;EAW83237;EAW83238;EAW83239;NP_001784;P22223 Hs.191842 1762687;1771708;2130233;2217140 CDH3_526;D16S3206;SHGC-146481;SHGC-61141 CDHP;HJMD;PCAD OTTHUMP00000174867;cadherin-3;calcium-dependent adhesion protein, placental APPROVED protein-coding ENSG00000062038 1762 00227 114021;225280;601553;612580 REVIEWED 1316530 CDH5 cadherin 5, type 2 (vascular endothelium) This gene is a classical cadherin from the cadherin superfamily and is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classic cadherin by imparting to cells the ability to adhere in a homophilic manner, the protein may play an important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 16 16 q22.1 64958064 64996190 + 66400525 66438689 + 1598391;1580863;6480464;6484113 14695457 12219009;1522121;16027153;15980433;15897346;15861137;15735710;15731052;15601837;15572031;15374707;15220112;14699141;14678493;12740216;12658549;12626512;12595527;12584244;12584200;12477932;12426320;12413882;12393634;12243749;16115630;12234928;12088286;9219219;19420236;19356953;19345098;19212436;19059243;18990449;18979298;18804209;18641366;18639387;18628953;18420943;18402976;18337748;18316602;18287330;18272754;18195090;18180305;18163230;17761936;17638851;17194459;17159998;17060906;17057644;16909109;16893970;16481735;16335952;16322481;12130501;12095140;12010652;12003790;11950930;11950700;11937138;11900554;11855855;11777950;11490021;10861224;10681592;10428027;10063232;9739078;9615235;9378757;7627717;2059658;9434630;15723073;22720111;22213015;19633358;19735546;19760520;19996314;20048167;20123970;20167365;20224040;7806582;19913121;20470859;20628086;20926024;20810734;20732872;19915944;20032304;20693433;20463083;20589320;20386594;21168935;20446815;20711993;21190990;23118492;22865455;21269615;21439626;23079531;23465821;22975327;22623531;22064597;22922959;21190742;22040113;22133903;22391038;22734943;23376478;23074279;23168683;22562824;22398721;22648953;22833667;23159740 1003 B4DTR2;H3BPG1;H3BQ82;H3BR11;H3BR64;I3L1J2;P33151 AB035304;AB209908;ABBA01025403;ABBA01025404;ABBA01025405;AC132186;AK300299;AK300322;AK300461;AMYH01007737;BC096363;BC096364;BC096365;BC117520;CH471092;DC381809;NM_001795;U84722;X59796;X79981 AAB41796;AAH96363;AAH96364;AAH96365;AAI17521;BAA87418;BAD93145;BAG62052;BAG62074;BAG62180;CAA42468;CAA56306;EAW83009;NP_001786;P33151 Hs.76206 1795544;2130590;2150587 CDH5_1;D16S3319;SHGC-60813 7B4;CD144;FLJ17376 7B4 antigen;OTTHUMP00000174777;VE-cadherin;cadherin 5, type 2, VE-cadherin (vascular epithelium);cadherin-5;cd144 antigen;endothelial-specific cadherin;vascular endothelial cadherin APPROVED protein-coding ENSG00000179776 1764 03075 601120 REVIEWED 1315712 CDH7 cadherin 7, type 2 This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures. Alternative splicing in the 5' UTR of this gene yields variant transcripts encoding the same protein. [provided by RefSeq, Jul 2008] 18 18 18 q22.1 60138894 60269263 + 61568468 61699155 + 63417488 63548175 + 1580863;6480464 15273735;12477932;10995570;10861224;9615235;19200257;20379614;7806582;9219219;21378379;21988832;23247143 1005 F5H5X9;Q9ULB5 AB035301;ABBA01056243;ABBA01056244;ABBA01056245;AC023394;AC090358;AJ007611;AMYH01009062;BC036786;CH471096;NM_004361;NM_033646 AAH36786;BAA87415;CAC13127;EAW63173;EAW63174;EAW63175;NP_004352;NP_387450;Q9ULB5 Hs.657522 1707386;1797380;2144325;5022578 CDH7_2588;D1S1423;RH17611;SHGC-84477 CDH7L1 OTTHUMP00000163685;cadherin-7 APPROVED protein-coding ENSG00000081138 1766 12049 605806 REVIEWED 1343938 CDH4 cadherin 4, type 1, R-cadherin (retinal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 20 20 q13.3 59260952 59945694 + 59827482 60515673 + 1580863;6480464 2059658;17903297;16786001;15548679;15489334;15143071;14702039;12477932;11780052;10799302;10760957;10662782;10516427;10191097;7982033;798233;20834067;21658281;18029348;19724895;19851296;20198315;20379614;7806582;9219219;20932310;22820501;21665361;8889548;22219182;20228063;20467438;23251661;23279374 1002 P55283 ABBA01040115;ABBA01040116;ABBA01040117;ABBA01040118;ABBA01040119;ABBA01040120;ABBA01040121;ABBA01040122;ABBA01040123;ABBA01040124;ABBA01040125;ABBA01040126;ABBA01040127;ABBA01040128;ABBA01040129;ABBA01040130;ABBA01040131;ABBA01040132;AI422259;AK025855;AK091496;AK092092;AK124724;AK308345;AK315192;AL079336;AL109911;AL160412;AL162457;AL365229;AL365401;AL391316;AL450463;AL834206;AMYH01012033;AMYH01012034;AMYH01012035;AMYH01012036;AMYH01012037;AMYH01012038;BC101651;BC112150;BM664894;BX640515;CH471077;DC330816;L34059;NM_001252338;NM_001252339;NM_001794 AAA35627;AAI01652;AAI12151;BAB15259;BAC03677;BAG37632;BAG54080;CAD38893;EAW75408;EAW75409;EAW75410;NP_001239267;NP_001239268;NP_001785;P55283 Hs.473231 1340283;1661894;1662177;1662424;1675782;1707994;1743321;1752103;1757933;1758363;1758513;1763727;1765549;1774266;1774819;1848071;2144656;2161395;2171818;2185591 D13S707;D1S513;G13391;GDB:314889;RH65523;RH76588;SHGC-106055;SHGC-146884;SHGC-147401;SHGC-148162;SHGC-148547;SHGC-149017;SHGC-84661;Z94317;Z94350;Z94484;Z94494;Z94541;Z94684;Z94692 CAD4;FLJ22202;FLJ40547;MGC126700;MGC138355;RCAD OTTHUMP00000031444;R-CAD;R-cadherin;cadherin 4, type 1, preproprotein;cadherin-4;retinal cadherin APPROVED protein-coding ENSG00000179242 1763 04304 603006 REVIEWED 735712 CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011] 5 5 p13.3 31229553 31360994 + 31193762 31329253 + 1580863;6480464 7743525;18029348;16344560;16335952;15489334;12477932;10861224;10207020;10191097;9615235;9520111;9506208;9205085;2059658;20634887;20709820;7806582;9219219;10940709;14702039;22001757 1004 D6RF86;P55285 ABBA01066716;AC091898;AC113386;AK024238;AK291290;AL049227;AMYH01014992;AU130185;BC000019;BC013907;CH471118;D31784;DC353791;NM_004932 AAH00019;BAA06562;BAF83979;EAX10763;EAX10764;EAX10765;NP_004923;P55285 Hs.124776;Hs.171054 1337815;1683118;1794306;1795546;2126867;2147944;2157968;2180692 CDH6_424;D5S108;D5S599;PMC311006P2;RH48923;RH98465;SGC35576;SHGC-11631 CAD6;DKFZp564N1116;FLJ14176;KCAD K-cadherin;OTTHUMP00000115839;OTTHUMP00000220908;cadherin 6, K-cadherin (fetal kidney);cadherin, fetal kidney;cadherin-6;kidney cadherin APPROVED protein-coding ENSG00000113361 1765 04305 603007 REVIEWED 735375 CDH8 cadherin 8, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 46191618 46573463 - 60244736 60627537 - 61685915 62070739 - 1580863;6480464 2059658;15489334;14702039;12477932;12209956;10861224;9615235;9521872;7982033;20379614;7806582;9219219;21602797;20972252;21389276;22359512;23144319 1006 J3KRI5;J3KT81;J3KTG8;J3QKW5;J3QLE6;P55286 AB035305;AB074170;ABBA01025353;ABBA01025354;ABBA01025355;AC012174;AC040161;AC092124;AC092125;AC092129;AK124734;AMYH01007725;AMYH01007726;BC113416;CH471092;L34060;NM_001796;R34732;R49605 AAA35628;AAI13417;ADR83258;BAA87419;BAE45735;BAG54083;EAW82994;EAW82995;NP_001787;P55286 Hs.368322 1664075;1708174;1714675;1719277;1731839;1732141;1738763;1738847;1769013;1775060;1849148;1856637;2217142 AFM212XE11;CDH8_1919;D16S2849;D16S2896;D16S2997;D16S3337;D16S389;D16S533;RH120002;RH123361;SHGC-32357;SHGC-60754;SHGC-79337 Nbla04261 OTTHUMP00000174769;cadherin 8;cadherin-8;putative protein product of Nbla04261 APPROVED protein-coding 1767 04306 603008 VALIDATED 1606556 CDHR2 cadherin-related family member 2 This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010] 5 5 5 q35.2 172478089 172531637 - 175908971 175955375 + 175969512 176022769 + 6480464 12117771;19383367;15534908;14702039;12477932;11082270;8889549;22318606;8125298;15342556;22118674 54825 A1L3U4;D6REJ3;Q9BYE9 AA130780;AB047004;ABBA01033489;ABBA01033490;ABBA01033491;ABBA01033492;AC091934;AK000131;AK000390;AK225217;AK315055;AMYH01015862;BC130282;BP271197;BX478954;CH471195;NM_001171976;NM_017675 AAI30283;BAA90962;BAB40777;BAG37531;EAW85066;EAW85067;EAW85068;EAW85069;NP_001165447;NP_060145;Q9BYE9 Hs.4205 1674444;1776086;2168097;2171209;2185877;5014055 D1S3697;RH35970;RH48053;RH77998;SGC33786;SHGC-76867 FLJ20124;FLJ20383;MGC163154;PC-LKC;PCDH24;PCLKC OTTHUMP00000223383;OTTHUMP00000223384;OTTHUMP00000223385;cadherin-related family member 2;protocadherin 24;protocadherin-24 APPROVED protein-coding ENSG00000074276 18231 15103 REVIEWED 1354185 CDH9 cadherin 9, type 2 (T1-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008] 5 5 5 p14 26765945 26923932 - 26916466 27074446 - 26880709 27038689 - 1580863;6480464 19404256;16344560;15489334;12477932;10861224;10835267;2059658;17668045;7806582;9219219;21079607;22846907;19322201;22589738;22872573;23279374 1007 D6RBT9;E7EPN0;Q9ULB4 AB035302;ABBA01066658;ABBA01066659;ABBA01066660;ABBA01066661;ABBA01066662;ABBA01066663;AC010470;AC022450;AK294183;AK307779;AK308697;AMYH01014980;BC107594;BC109384;BC113745;CH471118;DA165253;NM_016279 AAI07595;AAI09385;AAI13746;BAA87416;BAG57501;EAX10746;EAX10747;EAX10748;NP_057363;Q9ULB4 Hs.272212 1724087;1795548;2151842 CDH9_3;RH118785;WI-14975 MGC125386 OTTHUMP00000115836;T1-cadherin;cadherin-9 APPROVED protein-coding ENSG00000113100 1768 13021 609974 REVIEWED 737398 CDHR1 cadherin-related family member 1 This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013] 10 10 10 q23.1 79949917 79974886 + 85944497 85967102 + 85954412 85979377 + 633048;1580863;6480464;7240710 11597768 21697133;16288196;12477932;16344560;16385451;20087419;20805371;20498078;21875946;23233793;18654668;23044944;8889548 92211 B3KWC7;E7EN47;F1T0L2;Q96JP9 AA576346;AB053448;AB593154;AB593155;ABBA01003757;ABBA01003758;AC022389;AK124752;AL080188;AMYH01002890;AW129079;BC038799;BM674749;CH471142;DA373888;DA957169;NG_028034;NM_001171971;NM_033100 AAH38799;BAB61905;BAG54089;BAJ84086;BAJ84087;CAH10732;EAW80361;EAW80362;EAW80363;EAW80364;NP_001165442;NP_149091;Q96JP9 Hs.137556;Hs.660813 1711400;2173622 G42184;RH15739 CORD15;DKFZp434A132;KIAA1775;PCDH21;PRCAD;RP65 MT-protocadherin;OTTHUMP00000019993;OTTHUMP00000019994;cadherin-related family member 1;photoreceptor cadherin;protocadherin-21 APPROVED protein-coding ENSG00000148600 14550 15106 609502;613660 REVIEWED 1603532 CDHR3 cadherin-related family member 3 7 7 7 q22.3 100409194 100482416 + 105390921 105461454 + 105603657 105676877 + 6480464 18029348;14702039;12690205;12477932;20833655;9847074 222256 C9JNJ3;E7EQG5;E9PEI5;F5H0Z2;F8WF00;H7C548;H7C555;Q6ZTQ4 AACC02000004;ABBA01057932;AC004836;AC004964;AC005099;AK074414;AK125261;AK126338;AK131293;AK304118;AK304352;AMYH01017820;AMYH01017821;BC111696;BC111738;CH236947;CH471070;DC416640;NM_152750 AAI11697;AAI11739;BAB85073;BAC86529;BAG54762;BAH14108;BAH14166;EAL24403;EAW83375;EAW83376;EAW83377;EAW83378;NP_689963;Q6ZTQ4 Hs.150120 1336364;1776875;2115808;2137791;2139414;2170194;2181377;5014029;5015861;5020946;5037552;5125670;7185938;7186747 D10S16;D13S1639;D7S2305;D7S2390;D7S2453;D7S2840;D8S2279;GDB:6028542;L17971;RH16394;SHGC-30998;SHGC-35222 CDH28;FLJ23834;FLJ43271;MGC133292;MGC133293 OTTHUMP00000212237;OTTHUMP00000212239;cadherin-like protein 28;cadherin-related family member 3 APPROVED protein-coding ENSG00000128536 26308 08042 VALIDATED 1605676 CDHR5 cadherin-related family member 5 This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010] 11 11 11 p15.5 681712 690214 - 606575 615007 - 616565 625067 - 6480464 16344560;16335952;14702039;12975309;12589428;12477932;12167596;11031102;10817752;10801787;19913121;20628086;21315419;21839066;22202456 53841 B4DV98;E9PKR2;E9PLX6;E9PMY2;E9PPW2;Q58EZ6;Q9NXI9 AA975851;ABBA01015197;AF258674;AF258675;AF258676;AF258677;AF258678;AF258679;AF276242;AF301909;AI640262;AK000226;AK000384;AK025012;AK300991;AK308040;AK309157;AMYH01003289;AP006284;AW137262;AY358368;BC038405;BC107063;CH471158;DA373160;NM_001171968;NM_021924;NM_031264 AAG16730;AAG16731;AAG16732;AAG16733;AAG30821;AAG33495;AAH38405;AAQ88734;BAA91021;BAA91130;BAB15052;BAG62610;EAX02361;EAX02362;EAX02363;EAX02364;EAX02365;EAX02366;EAX02367;NP_001165439;NP_068743;NP_112554;Q9HBB8 Hs.165619 1683759 RH99331 FLJ20219;MU-PCDH;MUCDHL;MUPCDH OTTHUMP00000162884;OTTHUMP00000162885;cadherin-related family member 5;mu-protocadherin;mucin and cadherin-like protein APPROVED protein-coding ENSG00000099834 7521 06021 606839 REVIEWED 1605792 CDHR4 cadherin-related family member 4 3 3 3 p21.31 49793740 49802731 - 49810669 49812272 - 49828165 49837254 - 6480464 15489334;12975309;12477932;20307617 389118 A6H8M9;E9PFE8;H7C4N6;H7C5B2 ABBA01024574;AC139451;AMYH01013162;AY358221;BC132756;BC146674;NM_001007540 A6H8M9;AAI32757;AAI46675;AAQ88588;NP_001007541 Hs.363312 5037552 D8S2279 CDH29;MGC164982;PRO34300 Cadherin-like protein UNQ9392/PRO34300;OTTHUMP00000212679;VLLR9392;cadherin-like 29;cadherin-like protein 29;cadherin-related family member 4 APPROVED protein-coding ENSG00000187492 34527 17378 PROVISIONAL 7244483 CDIPT-AS1 CDIPT antisense RNA 1 (head to head) 12477932 440356 ABBA01013116;AC120114;AI269516;AK131031;AMYH01007495;BC070380;BC119017;BC119809;BM006535;NR_015396;NR_024370 Hs.448823 miscrna ENSG00000214725 48609 VALIDATED 1321732 CDIP1 cell death-inducing p53 target 1 16 16 16 p13.3 4769569 4797708 - 4500677 4528817 - 4560676 4588816 - 6480464 17599062;10570909;16344560;15489334;12477932;11230166;20379614;16751776;21139048;21890473;22549949 29965 H3BRY7;H3BTN7;H3BTX4;K7EK15;K7ELR4;K7EM67;K7ENR4;K7ESA8;Q9H305 ABBA01026777;AC007606;AC023830;AF131218;AF195661;AK292036;AK294257;AK302297;AK307067;AK308532;AK311295;AL136698;AL833853;AMYH01007104;BC002882;BC007604;CH471112;CR533446;DA055704;DQ167023;NM_001199054;NM_001199055;NM_001199056;NM_013399 AAF26619;AAG35583;AAH02882;AAH07604;AAZ94626;ADZ15492;BAF84725;BAG57552;BAG63637;CAB66633;CAD38712;CAG38477;EAW85291;EAW85292;EAW85293;EAW85294;EAW85295;EAW85296;EAW85297;EAW85298;NP_001185983;NP_001185984;NP_001185985;NP_037531;Q9H305 Hs.654653 1647708;1666612;1671637;1731385;1737547;2156994;2167465 D16S2655;D16S2980;D16S453;SHGC-60696;SHGC-60771;SHGC-60849;SHGC-61112 C16orf5;CDIP;I1;LITAFL LITAF-like protein;cell death inducing protein;cell death involved p53-target;cell death-inducing p53-target protein 1;cell death-inducing protein;lipopolysaccharide-induced tumor necrosis factor-alpha-like protein;transmembrane protein I1 APPROVED protein-coding ENSG00000089486 13234 12676 610503 VALIDATED 736670 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 72921652 72926552 + 29777179 29782079 - 29869678 29874578 - 6480464;6907045 9407135;16312203;15489334;14702039;12477932;9370331;8125298;8110188;19913121;20628086;20426864;21832049;21900206;21903422;21139048;21906983 10423 A8K3L7;B3KY94;H3BTJ7;H3BTV1;H3BUR9;O14735 ABBA01013116;AC120114;AF014807;AK094468;AK097691;AK131227;AK131349;AK222676;AK290632;AK300805;AK310988;AK314544;AL050383;AMYH01007495;BC001444;BI490060;BT007301;CH471238;CR542016;NM_006319 AAB94860;AAH01444;AAP35965;BAD18505;BAD96396;BAF83321;BAG52872;BAG53514;BAG54756;BAG62462;CAG46813;EAW79976;EAW79977;EAW79978;NP_006310;O14735 Hs.731127 1666136;1678811;1686444 D16S3310;RH64982;RH98729 MGC1328;PIS;PIS1 CDP-diacylglycerol--inositol 3-phosphatidyltransferase;OTTHUMP00000162985;PI synthase;PtdIns synthase;phosphatidylinositol synthase APPROVED protein-coding ENSG00000103502 1769 12063 605893 VALIDATED 1312526 CDK10 cyclin-dependent kinase 10 The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 16 16 q24 88280577 88290263 + 89753076 89762772 + 1580863;6480464 22315970;8084611;18242510;8208557;17192257;16381901;16344560;15489336;15489334;12477932;11313931;11076863;11006117;10036189;8889548;7882308;7664269;18483556;19578364;19846932;16226712;22326270;21983787;22209942;22158035;21890473;21906983;22632162 8558 B7Z537;D6RA59;D6REZ2;D6RHH3;F8W872;H3BSN8;H3BT74;Q15131;Q9UHL7 AB209829;ABBA01014136;AC010538;AF153430;AJ010341;AK075036;AK131531;AK290485;AK292351;AK295397;AK296631;AK298386;AK312016;AMYH01007938;BC017342;BC025301;BC032704;BC093028;BM677573;BM720563;BQ184950;CH471184;CX867290;DB118903;DC362478;L33264;NM_001098533;NM_001160367;NM_052987;NM_052988;NR_027702;NR_027703;X78342 AAA60092;AAF18371;AAH17342;AAH25301;ACE86898;ACE87585;BAD93066;BAF83174;BAF85040;BAG34954;BAG52055;BAG54773;BAH12055;BAH12406;BAH12773;CAA55137;CAB37619;CAL37781;CAL38055;CAL38082;EAW66700;EAW66701;EAW66702;EAW66703;EAW66704;EAW66705;EAW66706;EAW66707;EAW66708;EAW66709;EAW66710;EAW66711;NP_001092003;NP_001153839;NP_443713;NP_443714;Q15131 Hs.699177 1667703;1698938;1730165;2191641;5014051;5022200;5022578;5037552 D18S77E;D1S1423;D8S2278;D8S2279;L18426;MARC_3459-3460:996679104:1;RH103038;SHGC-61182 PISSLRE CDC2-related protein kinase;OTTHUMP00000175352;OTTHUMP00000217847;cell division protein kinase 10;cyclin-dependent kinase (CDC2-like) 10;cyclin-dependent kinase 10;cyclin-dependent kinase related protein;serine/threonine protein kinase PISSLRE;serine/threonine-protein kinase PISSLRE APPROVED protein-coding ENSG00000185324 1770 603464 REVIEWED 1604655 CDK11A cyclin-dependent kinase 11A This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L1, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L1, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions, which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L1 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Many transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of only two have been determined so far. [provided by RefSeq, Jul 2008] 1 1 p36.33 1560463 1580350 - 1634169 1655791 - 6480464 12501247;15231747;9750192;1639388;10882096;8195233;19245811;19122208;17606997;17177267;17081983;16710414;16462731;16039607;16004605;15963510;15883043;15330758;15302935;14511641;12624090;12477932;11980906;11683997;11506180;11181995;9740677;9632733;9580558;9115219;7920654;7777541;2217177;1774066;14623875;12446680;19520772;19884882;20508983;18029348;16055720;21693764;21906983;18729074;22505724 728642 E7ESP2;E9PFJ2;G8JLH1;J3KS35;Q4VBY6;Q5QPQ9;Q5QPR3;Q5QPR4;Q9UP54 ABBA01016066;AF067518;AF067519;AF067520;AF067521;AF067522;AF067523;AF067524;AF067526;AF067527;AF067528;AF067529;AF080694;AF080695;AF080697;AF092426;AL031282;AL043340;AL691432;AMYH01000150;AMYH01000151;AMYH01000152;AMYH01000153;AMYH01000154;AMYH01000155;AMYH01000156;AMYH01000157;BC014464;BC028187;BC054019;BC062579;BC094827;BC104661;BC110905;CH471183;DC388505;NG_029414;NM_024011;NM_033529;U04819;U07704;U07705 AAA19585;AAA19594;AAA19595;AAC72083;AAC72084;AAC72085;AAC72086;AAC72087;AAC72088;AAC72089;AAC72091;AAC72092;AAC72093;AAC72094;AAC95297;AAC95298;AAC95299;AAC95300;AAC95301;AAC95302;AAC95303;AAC95304;AAH14464;AAH28187;AAH62579;AAH94827;AAI04662;AAI10906;EAW56161;EAW56162;EAW56163;EAW56164;EAW56165;EAW56166;EAW56167;EAW56168;NP_076916;NP_277071;Q9UQ88 Hs.651228;Hs.709182 1658802;1662115;1668766;2164690;5109281 A002R14;AFMB067YH1;D1S1425;SHGC-34744;SHGC-74110 CDC2L2;CDC2L3;CDK11-p110;CDK11-p46;CDK11-p58;MGC131975;PITSLRE;p58GTA OTTHUMP00000000760;OTTHUMP00000000762;OTTHUMP00000000763;OTTHUMP00000000764;OTTHUMP00000000767;OTTHUMP00000000768;PITSLRE B;PITSLRE protein kinase beta;PITSLRE serine/threonine-protein kinase CDC2L2;cell division cycle 2-like 2 (PITSLRE proteins);cell division cycle 2-like protein kinase 2;cell division protein kinase 11A;cyclin-dependent kinase 11A;galactosyltransferase-associated protein kinase p58/GTA APPROVED protein-coding ENSG00000008128 1730 116951 REVIEWED 733880 CDK12 cyclin-dependent kinase 12 17 17 17 q12 34278706 34351410 + 34871265 34944326 + 37617739 37690800 + 6480464 11683387;19124506;17192257;17081983;16964243;16344560;15302935;15231748;12477932;12168954;10048485;18029348;19651820;19884882;20734064;20952539;12841360;16055720;16159877;16226712;22988298;16051665;22012619;22939629;22990118;19596686;21139048;21693764;22623531;19322201;21963094;21988832;22547058 51755 H0YLT2;J3QSD7;Q9NYV4 AB020711;ABBA01031862;ABBA01031863;ABBA01031864;ABBA01031865;ABBA01031866;AC009283;AF227198;AK302645;AMYH01008375;BC140854;BC150265;BM557102;CB049262;CH471152;DA026139;NM_015083;NM_016507 AAF36401;AAI40855;AAI50266;BAA74927;BAG63886;EAW60576;EAW60577;NP_055898;NP_057591;Q9NYV4 Hs.416108 1688068;1693760;1698752;2109193;2162523;2184160;5096057 CRK7_9758;L18221;RH102939;RH45437;RH70045;RH92543;SHGC-58832 CRK7;CRKR;CRKRS;KIAA0904;hCDK12 CDC2-related protein kinase 7;Cdc2-related kinase, arginine/serine-rich;OTTHUMP00000164282;cell division cycle 2-related protein kinase 7;cell division protein kinase 12;cyclin-dependent kinase 12;protein kinase for splicing component APPROVED protein-coding ENSG00000167258 24224 10849 VALIDATED 1604656 CDK11B cyclin-dependent kinase 11B This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. [provided by RefSeq, Jul 2008] 1 1 p36.33 1624180 1645637 - 1571100 1590473 - 6480464 12501247;12624090;17353931;9750192;8195233;1639388;10882096;18651850;17698582;17081983;16964243;15883043;15489334;15345747;15330758;15302935;15175163;14684736;14675149;14623875;14511641;12477932;12082095;11709559;9632733;9580558;19122208;19245811;9115219;7920654;7777541;2217177;1774066;15963510;16169070;16413544;17643375;19538938;19854136;19884882;20508983;18029348;15344906;16055720;21078675;21371428;21297952;21252943;22939629;21461981;21897860;21808150;21987572;22188294;19471022;21139048;21906983;15385968;21890473;21963094;21988832;22791884;22939624;18773076;22505724 984 J3KTL7;J3QKR5;J3QL65;J3QR29;J3QR44;Q9NZS5 ABBA01016061;ABBA01016062;ABBA01016063;AF067512;AF067513;AF067514;AF067515;AF067516;AF067517;AF080683;AF174497;AK000081;AK295607;AK301495;AK303446;AK303451;AK304679;AL691432;AMYH01000146;AMYH01000147;BC009375;BC139777;BC140714;BC171773;CH471183;M88563;NM_033486;NM_033487;NM_033488;NM_033489;NM_033492;NM_033493;U04816;U04817;U04818;U04824 AAA19582;AAA19583;AAA19584;AAA19586;AAB59449;AAC72077;AAC72078;AAC72079;AAC72080;AAC72081;AAC72082;AAC83662;AAC83663;AAC83664;AAC83665;AAC83666;AAF36538;AAH09375;AAI39778;AAI40715;AAI71773;BAG58493;BAG63006;BAG64491;BAG64496;BAG65451;EAW56170;EAW56171;EAW56172;EAW56173;NP_277021;NP_277022;NP_277023;NP_277024;NP_277027;NP_277028;P21127 Hs.709182 1658802;1662115;1668766;2164690 A002R14;AFMB067YH1;SHGC-34744;SHGC-74110 CDC2L1;CDC2L2;CDK11;CDK11-p110;CDK11-p46;CDK11-p58;CLK-1;FLJ59152;PK58;p58;p58CDC2L1;p58CLK-1 CDC-related protein kinase p58;PITSLRE serine/threonine-protein kinase CDC2L1;PITSLREA;cell division cycle 2-like 1 (PITSLRE proteins);cell division cycle 2-like 2 (PITSLRE proteins);cell division cycle 2-like protein kinase 1;cell division protein kinase 11B;cell division protein kinase 11B-like;cyclin-dependent kinase 11B;galactosyltransferase-associated protein kinase p58/GTA;p58 CLK-1 APPROVED protein-coding ENSG00000248333 1729 08909 176873 REVIEWED 731889 CDK1 cyclin-dependent kinase 1 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 10 10 q21.1 62205690 62223930 + 62538089 62554610 + 1358139;2316488;2314685;2316317;2701900;2715645;2683526;2776427;2708463;2711357;2296067;2756028;2722465;6480464;6907045 19672039;19298605;19136513;18245534;17145867;19377877;16000564;17956886;17575168;18299147;17460776;15017593 7969176;11069302;11574543;11285280;10793135;1717476;9001210;10395539;1384126;1828290;7799941;11598127;12791267;16109376;19369249;19303298;19223178;19158392;19066288;19061641;19048596;18950845;18799590;18635963;18593881;18568422;18550795;18490441;18480403;18450493;18434602;18408765;18372919;18356527;18347064;18337751;18272575;18272572;18247328;18230152;18201571;18195732;18056802;18029348;18025303;18003885;17960875;17636382;17525531;17498878;17488622;17474786;17472438;17466630;17419986;17386261;17373700;17359356;17351640;17242184;17192257;17172867;17171635;17159347;17098733;17043241;17013563;17012222;16888198;16880739;16880735;16807237;16784539;16682949;16629900;16565220;16533053;16519687;16478538;16474839;16465393;16458891;16427064;16407259;16381901;16377132;16371510;16258277;16247472;16237118;16198290;16192727;16159883;16142332;16118207;16036217;15951569;15888452;15790566;15767402;15735705;15678101;15662526;15635413;15604258;15592455;15591787;15582998;15541388;15531913;15525677;15489336;15489334;15474478;15345747;15317660;15311285;15215233;15181148;15175024;15145941;15125835;15073847;15030318;15024056;15016823;15014043;14993212;14697231;14654553;14645578;14635192;14551205;12912980;12884029;15368451;12881709;12853968;12839990;12832492;12810701;12775724;12771130;12742823;12676926;12648761;12613668;12612056;12604359;12586835;12569365;12569090;12556484;12551973;12525641;12477932;12468530;12450396;12411508;12407107;12397081;12372621;12200623;12186947;12177195;12151413;12145207;12107172;12077309;12058066;11986303;11953320;11901153;11895447;11878934;11861764;11836499;11782384;11779217;11774038;11687586;11683421;11584018;11559705;11549262;11531413;11504921;11470801;11444800;11331587;11327730;11310559;11278991;11278541;11259605;11135364;11113184;11113134;11076863;10973963;10958988;10938080;10924145;10825186;10769027;7673335;7666531;7635160;7592773;7590285;7578274;7499230;7494303;7474100;7474080;3553962;3289755;2686978;2570636;2541912;2538242;2473839;2344612;2227411;2183353;1939057;1916766;1756735;1748630;1425574;1406653;1400350;1388288;1318195;1310466;914146;17011204;8524869;15050687;16354571;15725353;15578977;15265780;15142377;15817944;15780175;17679094;9891079;18245089;18655026;12124778;7876309;10747892;10362260;8242750;10864927;14499622;11326318;10884347;10502411;15367677;15082718;15989971;15735702;15525513;8475101;7737117;8423786;15782160;8662825;15674323;10766737;8070405;8463339;10767298;10764745;10716937;10656688;10636877;10602502;10564259;10524633;10504341;10497277;10403367;10373560;10077596;9990288;9988268;9926943;9753325;9733650;9725910;9614189;9600099;9585407;9575153;9560267;9525956;9524113;9520381;9515786;9467962;9398320;9315091;9295339;9271440;9268380;9247342;9244350;9242535;9235942;9188632;9141461;9130708;9126608;9109675;9094673;8910336;8806671;8672508;8652557;8631817;8626512;8565853;8548803;8491187;8440392;8428596;8404858;8376365;8325880;8127873;8125092;8119945;8087847;8084605;8051175;8051108;8034666;7983050;7949095;7944411;7925482;7902715;7822264;7724583;7716549;21325631;22071694;22482362;22552942;10359664;18615582;22158041;22266860;22496227;8397206;8397207;9053846;17540176;17681274;18069625;11076968;12221128;12721286;12852856;15800651;1628647;16344560;16385451;16462731;16760428;17274640;17327911;17349584;19664338;21406398;18329369;19375851;19473963;19509060;19615732;19683496;19687009;19723060;19725879;19737929;19786724;19789190;19837665;19884882;19917720;20062077;20068230;20068231;2013279;20171170;20181698;20360007;20368335;20368358;20404109;20412769;20508983;7769006;7790358;20379221;20974803;20395957;16998479;20974812;20935635;21041660;20526282;15276183;20739936;20808790;19454010;20937773;21081492;10712923;11520933;9069267;20169205;20711190;20733055;20439461;20444701;16226712;20810654;21498573;21262764;11395479;19134343;21131960;21454540;22871736;20890132;21522128;16196087;20228808;21712819;21488187;21569376;21525341;19483727;21379580;20367638;21123648;21135039;21148318;21875946;17200138;19364923;10383391;11980914;12361598;22863883;22965228;8626527;9258347;9885575;21504622;21743465;18457437;21900237;21925791;21871177;21871181;18781797;21887332;21900495;21924351;21987572;21998300;20360068;21059642;21081666;21952639;21767532;21878640;21951856;21813648;22024133;22907750;22962268;16205633;17431037;22163316;22689984;19471022;21907836;22137483;7903056;20581839;21120602;22101338;22407595;22726437;22768111;21139048;21693764;21878504;21890473;21906983;11136719;21659531;17725712;21308745;12190313;18471975;18560763;21319273;22814604;10339564;12612082;19738201;21840486;21963094;21988832;22623428;23000965;23264621;23383273;22848730;22939629;23045552;9199321;22718829;22784093;9315635;9668078;9774639;8663071;15070733;15147269;17433108;17586317;17906618;18271526;18445273;18514189;19275580;19275583;19275586;19275588;19344781;19458171;19815027;20956543;21489275;21918813;22053931;22505724;11034995;11516829;16009130;20126263;21987589;23330000;23355470;23543736;23667531;18477460;22580043 983 B7Z3D6;E5RIU6;I6L9I5;P06493 AA459484;ABBA01019464;ABBA01019465;ABBA01019466;AC022390;AF512554;AK291939;AK295741;AMYH01002767;AW976143;BC014563;BC107750;BF685285;BG723076;BT007004;BU633268;CH471083;CR933728;D88357;DA823877;NG_029877;NM_001170406;NM_001170407;NM_001786;NM_033379;X05360;Y00272 AAH14563;AAI07751;AAM34793;AAP35650;BAA26001;BAF84628;BAH12172;CAA28963;CAA68376;CAI46271;CAL37461;CAL37925;CAL38165;CAL38602;EAW54204;EAW54205;EAW54206;EAW54207;EAW54208;EAW54209;EAW54210;NP_001163877;NP_001163878;NP_001777;NP_203698;P06493 Hs.732435 1658098;1674353;2181486;2183072;5021716 RH68267;RH71273;SHGC-57924;SHGC-64950;ksks369 CDC2;CDC28A;DKFZp686L20222;MGC111195;P34CDC2 OTTHUMP00000019659;OTTHUMP00000019660;OTTHUMP00000223862;cell cycle controller CDC2;cell division control protein 2 homolog;cell division cycle 2 homolog a (s. pombe);cell division cycle 2, G1 to S and G2 to M;cell division protein kinase 1;cyclin-dependent kinase 1;p34 protein kinase APPROVED protein-coding ENSG00000170312 1722 00302 116940 REVIEWED 1322573 CDK13 cyclin-dependent kinase 13 The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009] 7 7 7 p13 39978186 40124932 + 39956484 40101679 + 39989959 40136733 + 1580863;6480464 1731328;17081983;16964243;16730941;16721827;15635413;15302935;15231748;15144186;14702039;12853948;12477932;11347906;11162436;9847074;8125298;14968112;19884882;8889548;20811636;22939629;22990118;17620599;21139048;19596686;21963094;22547058;18480452 8621 Q9BVE2;Q9UDR4 AACC02000039;AB058694;ABBA01058149;ABBA01058150;ABBA01058151;ABBA01058152;ABBA01058153;AC006023;AC072061;AJ297709;AJ297710;AK025500;AK092534;AK130653;AK223053;AMYH01017192;AMYH01017193;AMYH01017194;AY679523;BC001274;BC080601;BF707421;BM699295;BM727913;BU686489;BX647326;CH236951;CH471073;CR748837;M80629;NM_003718;NM_031267 AAA58424;AAD54514;AAH01274;AAI68380;AAS07490;AAS07491;AAT74623;BAB47420;BAD96773;CAC10400;CAC10401;EAW94128;EAW94129;EAW94130;EAW94131;EAW94132;EAW94133;NP_003709;NP_112557;Q14004 Hs.233552 1665085;1677454;1678489;1714695;1715645;1788224;1788804;1790581;2125619;2134481;2140406;2156982;2159686;2169062;2217136;5094869 CDC2L5;CDC2L5_3913;D7S3089;G16022;GDB:1318476;GDB:1318631;HSC209_(7Gr397mb);RH119268;RH120012;RH139622;RH36512;RH45694;RH47846;RH66471;RH93376;RH93929 CDC2L;CDC2L5;CHED;FLJ35215;KIAA1791;hCDK13 CDC2-related protein kinase 5;OTTHUMP00000159007;OTTHUMP00000159008;cell division cycle 2-like protein kinase 5;cell division protein kinase 13;cholinesterase-related cell division controller;cyclin-dependent kinase 13 APPROVED protein-coding ENSG00000065883 1733 04496 603309 REVIEWED 1314644 CDK15 cyclin-dependent kinase 15 2 2 2 q33.2 196423311 196510043 + 202379443 202466511 + 202671152 202760273 + 1580863 17353931;16236519;15815621;15489334;14702039;12477932;12471243;11586298;19884882;16344560 65061 F8WDP7;Q6ZMR9 AB053308;ABBA01062546;ABBA01062547;ABBA01062548;ABBA01062549;ABBA01062550;AC007242;AC007358;AK091710;AK131512;AK292434;AK310050;AMYH01011404;AX772791;BC038807;BX647394;CH471063;DA050598;NM_001261435;NM_001261436;NM_139158 AAH38807;AAX88914;AAX93182;ACE86586;ACE86587;ACE87269;ACE87270;BAB69017;BAD18656;BAF85123;CAE06249;EAW70295;EAW70296;EAW70297;NP_001248364;NP_001248365;NP_631897;Q96Q40 Hs.348711 1341409;1689472;1704526;1728791 D2S2214;G54445;RH99261;SHGC-83058 ALS2CR7;PFTAIRE2;PFTK2 OTTHUMP00000163739;OTTHUMP00000206116;OTTHUMP00000206118;OTTHUMP00000209438;PFTAIRE protein kinase 2;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein;cell division protein kinase 15;cyclin-dependent kinase 15;serine/threonine protein kinase;serine/threonine-protein kinase ALS2CR7;serine/threonine-protein kinase PFTAIRE-2 APPROVED protein-coding ENSG00000138395 14434 12449 VALIDATED 1313632 CDK14 cyclin-dependent kinase 14 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008] 7 7 7 q21-q22 85042762 85544656 + 90176648 90677840 + 90338712 90839904 + 1580863;6480464 16775625;17353931;17517622;9202329;19058789;17567994;15761153;12853948;12690205;12098780;11313143;10048485;12477932;18029348;19524571;19884882;20379614;21184254;21577206;22333595 5218 C9IYJ9;C9JWL6;E7EUK8;F8WF96;Q8N764 AA883846;AACC02000015;AB020641;ABBA01045823;ABBA01045824;ABBA01045825;ABBA01045826;ABBA01045827;ABBA01045828;ABBA01045829;ABBA01045830;ABBA01045831;ABBA01045832;AC000057;AC000059;AC002065;AC002458;AC006036;AC017036;AC084381;AF119833;AK289782;AK295086;AK296406;AK297974;AK307484;AK316026;AMYH01017682;AMYH01017683;AMYH01017684;BC136476;BC136477;BC152388;BC152436;BC167152;BC167156;CH236949;CH471091;DQ655962;DQ655963;DQ655965;DQ655966;DQ656060;NM_012395 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;REN110448;REN110449;REN110450;REN110451;REN110452;REN110453;REN110454;REN110455;REN110456;REN110457;REN110458;REN110459;REN110460;REN110461;REN110462;REN110463;REN110464;REN110465;REN110466;REN110467;REN110468;REN110469;REN110470;REN110471;REN110472;REN110473;REN110474;REN110475;REN110476;REN110477;REN110478;REN110479;REN110480;REN110481;REN110482;REN110483;REN110484;REN110485;REN110486;REN110487;REN110488;REN110489;REN110490;REN110491;REN110492;REN110493;RH124009;RH79578;RH79963;SHGC-105171;SHGC-172111;SHGC-53026;SHGC-78196;SHGC-79903;stSG614801;stSG614802;stSG614803;stSG614804;stSG614805;stSG614806;stSG614807;stSG614808;stSG614809;stSG614810;stSG614811;stSG614812;stSG614813;stSG614814;stSG614815;stSG614816;stSG614817;stSG614818;stSG614819;stSG614820;stSG614821;stSG614822;stSG614823;stSG614824;stSG614825;stSG614826;stSG614827;stSG614828;stSG614829;stSG614830;stSG614831;stSG614832;stSG614833;stSG614834;stSG614835;stSG614836;stSG614837;stSG614838;stSG614839;stSG614840;stSG614841;stSG614842;stSG614843;stSG614844;stSG614845;stSG614846;stSG614847;stSG614848;stSG614849;stSG614850;stSG614851;stSG614852;stSG614853;stSG614854;stSG614855;stSG614856;stSG614857;stSG614858;stSG614859;stSG614860;stSG614861;stSG614862;stSG614863;stSG614864;stSG614865;stSG614866;stSG614867;stSG614868;stSG614869;stSG614870;stSG614871;stSG614872;stSG614873;stSG614874;stSG614875;stSG614876;stSG614877;stSG614878;stSG614879;stSG614880;stSG614881;stSG614882;stSG614883;stSG614884;stSG614885;stSG614886;stSG614887;stSG614888;stSG614889;stSG614890;stSG614892;stSG614893;stSG614894;stSG614895;stSG614896;stSG614897;stSG614898;stSG614899;stSG614900;stSG614901;stSG614902;stSG614903;stSG614904;stSG614905;stSG614906;stSG614907;stSG614908;stSG614909;stSG614910;stSG614911;stSG614912;stSG614913;stSG614914;stSG614915;stSG614916;stSG614917;stSG614918;stSG614919;stSG614920;stSG614921;stSG614922;stSG614923;stSG614924;stSG614925;stSG614926;stSG614927;stSG614928;stSG614929;stSG614930;stSG614931;stSG614932;stSG614933;stSG614934;stSG614935;stSG614936;stSG614937;stSG614938;stSG614939;stSG614940;stSG614941;stSG614942;stSG614943;stSG614944;stSG614945;stSG614946;stSG614947;stSG614948;stSG614949;stSG614950;stSG614951;stSG614952;stSG614953;stSG614954;stSG614955;stSG614956;stSG614957;stSG614958;stSG614959;stSG614960;stSG614961;stSG614962;stSG614963;stSG614964;stSG614965;stSG614966;stSG614967;stSG614968;stSG614969;stSG614970;stSG614971;stSG614972;stSG614973;stSG614974;stSG614975;stSG614976;stSG614977;stSG614978;stSG614979;stSG614980;stSG614981;stSG614982;stSG614983;stSG614984;stSG614985;stSG614986;stSG614987;stSG614988;stSG614989;stSG614990;stSG614991;stSG614993;stSG614995;stSG614996;stSG614997;stSG614998;stSG614999;stSG615000;stSG615001;stSG615002;stSG615003;stSG615004;stSG615005;stSG615006;stSG615007;stSG615008;stSG615009;stSG615010;stSG615011;stSG615012;stSG615013;stSG615014;stSG615015;stSG615016;stSG615017;stSG615018;stSG615019;stSG615020;stSG615021;stSG615022;stSG615023;stSG615024;stSG615025;stSG615026;stSG615027;stSG615028;stSG615029;stSG615030;stSG615031;stSG615032;stSG615033;stSG615034;stSG615035;stSG615036;stSG615037;stSG615038;stSG615039;stSG615040;stSG615041;stSG615042;stSG615043;stSG615044;stSG615045;stSG615046;stSG615047;stSG615048;stSG615049;stSG615050;stSG615051;stSG615052;stSG615053;stSG615054;stSG615055;stSG615056;stSG615057;stSG615058;stSG615059;stSG615060;stSG615061;stSG615062;stSG615063;stSG615064;stSG615065;stSG615066;stSG615067;stSG615068;stSG615069;stSG615070;stSG615071;stSG615072;stSG615073;stSG615074;stSG615075;stSG615076;stSG615077;stSG615078;stSG615079;stSG615080;stSG615081;stSG615082;stSG615083;stSG615084;stSG615085;stSG615086;stSG615087;stSG615088;stSG615089;stSG615090;stSG615091;stSG615092;stSG615093;stSG615094;stSG615095;stSG615096;stSG615097;stSG615098;stSG615099;stSG615100;stSG615101;stSG615102;stSG615103;stSG615104;stSG615105;stSG615106;stSG615107;stSG615108;stSG615109;stSG615110;stSG615111;stSG615113;stSG615114;stSG615115;stSG615116;stSG615117;stSG615118;stSG615119;stSG615120;stSG615121;stSG615122;stSG615123;stSG615124;stSG615126;stSG615127;stSG615129;stSG615130;stSG615131;stSG615132;stSG615133;stSG615134;stSG615135;stSG615136;stSG615137;stSG615138;stSG615139;stSG615140;stSG615141;stSG615142;stSG615143;stSG615144;stSG615145;stSG615146;stSG615148;stSG615149;stSG615150;stSG615151;stSG615152;stSG615153;stSG615154;stSG615155;stSG615156;stSG615157;stSG615158;stSG615159;stSG615160;stSG615161;stSG615162;stSG615163;stSG615164;stSG615165 KIAA0834;PFTAIRE1;PFTK1 OTTHUMP00000025267;OTTHUMP00000068098;OTTHUMP00000196961;PFTAIRE protein kinase 1;cell division protein kinase 14;cyclin-dependent kinase 14;hPFTAIRE1;serine/threonine-protein kinase PFTAIRE-1 APPROVED protein-coding ENSG00000058091 8883 15121 610679 VALIDATED 1343762 CDK19 cyclin-dependent kinase 19 This gene encodes a protein that is one of the components of the Mediator coactivator complex. The Mediator complex is a multiprotein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. [provided by RefSeq, Jul 2008] 6 6 6 q21 111677771 111883024 - 111037874 111243105 - 110931181 111136412 - 737633;6480464 12477932 17353931;18029348;18216018;17516030;15489334;15175163;14574404;12168954;10470851;12501247;19884882;20379614;20408451;22939629;20133760;22318606;22668559 23097 B4DUB1;H0YDW9;Q5JQZ9;Q9BWU1 AB028951;ABBA01026107;ABBA01026108;ABBA01026109;ABBA01026110;ABBA01026111;ABBA01026112;ABBA01026113;AJ420571;AK292360;AK300567;AL122055;AL512430;AL603914;AMYH01016589;AMYH01016590;AY028424;BC024247;BC036637;BC037289;BC047513;BX647699;CH471051;JX028238;NM_015076;Z84480 AAH24247;AAH37289;AAK27731;AFN21421;BAA82980;BAF85049;BAG62273;CAB59186;EAW48312;NP_055891;Q9BWU1 Hs.584867 1335021;1659374;1681028;1684626;1689201;1697130;1716455;1846891;1856484;1857312;2120905;2130956;2136263;2142420;2156070;5015861;5016478;5016596;5016781;5017227;5020414;5022578;5037552;5092830;5117897;7185938 A006H26;D10S16;D1S1423;D6S1647;D6S1933;D6S2200;D8S2279;G17046;G32356;G38154;GDB:434012;GDB:631802;GDB:631813;L17688;RH102050;RH121407;RH40971;RH44873;RH45675;RH46604;RH46687;RH80955;RH93857;SHGC-31366;SHGC-67307 CDC2L6;CDK11;KIAA1028;bA346C16.3 CDC2-related protein kinase 6;CDK8-like cyclin-dependent kinase;OTTHUMP00000017005;OTTHUMP00000017006;OTTHUMP00000017007;cell division cycle 2-like 6 (CDK8-like);cell division cycle 2-like protein kinase 6;cell division protein kinase 19;cyclin dependent kinase 19 variant 2;cyclin-dependent kinase (CDC2-like) 11;cyclin-dependent kinase 11;cyclin-dependent kinase 19;death-preventing kinase APPROVED protein-coding ENSG00000155111 19338 07627 614720 REVIEWED 1343326 CDK17 cyclin-dependent kinase 17 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010] 12 12 12 q23.1 96338255 96460459 - 95196171 95318354 - 96672039 96794366 - 1580863;6480464 1639063;17192257;15761153;15489334;15324660;12477932;11527406;10727952;9370357;14603251;15161933;16344560;19884882;21832049;20360068;21890473;21906983;21987572;22359512 5128 F5H6Z0;F8VQZ9;F8VUX2;F8VZY6;F8W1S5;Q00537 ABBA01053312;ABBA01053313;ABBA01053314;AC125612;AF086067;AK290011;AK294698;AK315214;AMYH01004680;BC033005;BF111798;CB990077;CH471054;DA530711;DA735430;DC307775;NM_001170464;NM_002595;X66360 AAH33005;ABM81734;ABM84889;BAF82700;BAG37649;BAG57856;CAA47004;EAW97566;EAW97567;EAW97568;EAW97569;NP_001163935;NP_002586;Q00537 Hs.506415 1659395;1709756;1794128;2163240 PMC310794P3;RH68952;SHGC-84689;STS-H95680 PCTAIRE2;PCTK2 OTTHUMP00000243608;OTTHUMP00000243609;OTTHUMP00000243610;PCTAIRE-motif protein kinase 2;cell division protein kinase 17;cyclin-dependent kinase 17;protein kinase cdc2-related PCTAIRE-2;serine/threonine-protein kinase PCTAIRE-2 APPROVED protein-coding ENSG00000059758 8750 09141 603440 REVIEWED 3563635 CDK2AP2P1 cyclin-dependent kinase 2 associated protein 2 pseudogene 1 9 p11.2 45363481 45363849 + 100289027 AL845472;AMYH01020511;NG_021654 pseudo 38492 INFERRED 3004749 CDK2AP2P3 cyclin-dependent kinase 2 associated protein 2 pseudogene 3 9 9 q13 67860002 67860905 - 68370182 68371085 - 401525 ABBA01008945;AL772155;AMYH01021214;NG_006137 pseudo 38494 INFERRED 734014 CDK16 cyclin-dependent kinase 16 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009] X X p11 46962576 46974340 + 47077528 47089396 + 6480464 1639063;16091426;1437147;18029348;17192257;17081983;16461345;16344560;15772651;15489334;14702039;12477932;12154078;12084709;10099831;9799109;9244435;9197417;8889548;8852665;8088790;7656587;9738006;14530271;16169070;19884882;21335063;21832049;22990118;20360068;21139048;21890473;21906983;22184064;19531213;22798068 5127 E5RGN0;E5RGV7;E5RIU4;E5RIY8;E5RJM2;E5RJQ8;H0YAZ9;H0YBX5;H0YC36;H0YC60;Q00536;Q9BRL4 AB209465;ABBA01052315;ABBA01052316;ABBA01052317;ABBA01052318;AK096881;AK131486;AK290145;AK296880;AK301832;AK303849;AL096791;AL513366;AMYH01022259;BC001048;BC006190;BC009852;BC015607;BG029956;BQ187876;BT006827;CH471164;DA816614;DA900611;NG_012517;NM_001170460;NM_006201;NM_033018;X66363 AAH01048;AAH06190;AAH09852;AAH15607;AAP35473;BAD18631;BAD92702;BAF82834;BAH12447;BAH13564;BAH14066;CAA47006;EAW59294;EAW59295;EAW59296;EAW59297;EAW59298;NP_001163931;NP_006192;NP_148978;Q00536 Hs.496068 2109635;2118663;2150997;5491252 DXS6977E;MARC_6347-6348:992007242:1;PCTK1_8525;RH71290 FLJ16665;PCTAIRE;PCTAIRE1;PCTGAIRE;PCTK1 OTTHUMP00000023208;OTTHUMP00000023209;OTTHUMP00000226801;OTTHUMP00000226803;PCTAIRE-motif protein kinase 1;cell division protein kinase 16;cyclin-dependent kinase 16;serine/threonine-protein kinase PCTAIRE-1 APPROVED protein-coding ENSG00000102225 8749 02409 311550 REVIEWED 1319906 CDK18 cyclin-dependent kinase 18 1 1 1 q31-q32 178608860 178637096 + 203740350 203768541 + 205473684 205501921 + 6480464 16091426;17192257;16766195;16710414;16344560;16189514;15489334;15019984;14702039;12477932;8088790;1639063;1437147;19884882;8889548;16341674;21832049;15161933;21139048;21890473;21906983;17979178;22939624;23382691;23444366 5129 D6R9B0;D6R9X1;D6RA44;D6RGH0;E9PMF2;Q07002;Q59G02 AB209307;ABBA01027415;AK126879;AK293756;AK295272;AK295654;AK296320;AK308913;AL161977;AL357131;AMYH01001671;AU130437;AY353237;AY353238;AY353239;AY353240;BC000281;BC009223;BC011526;BC040529;BM695474;BM772779;BT007299;BU165355;CH471067;DC381358;NM_002596;NM_212502;NM_212503;X66362 AAH00281;AAH11526;AAH40529;AAP35963;AAR13065;AAR13066;ABM84466;ABM84675;BAD92544;BAG54388;BAG57176;BAG58258;BAG58521;BAG59015;CAA47005;EAW91559;EAW91560;EAW91561;EAW91562;NP_002587;NP_997667;NP_997668;Q07002 Hs.445402 1682515;2108345 PCTK3_8526;RH80187 PCTAIRE;PCTAIRE3;PCTK3 OTTHUMP00000035326;OTTHUMP00000035327;OTTHUMP00000035328;PCTAIRE protein kinase 3;PCTAIRE-motif protein kinase 3;cell division protein kinase 18;cyclin-dependent kinase 18;serine/threonine-protein kinase PCTAIRE-3 APPROVED protein-coding ENSG00000117266 8751 01354 169190 VALIDATED 1349434 CDK4PS cyclin-dependent kinase 4 pseudogene 1 1 1 p21.1 104155375 104156202 + 105778139 105778966 + 105976616 105977443 + 23192594 359941 ABBA01028441;AL590631;AMYH01000878;NG_006109 pseudo 19040 INFERRED 1318567 CDK2AP1 cyclin-dependent kinase 2 associated protein 1 The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 12 12 q24.31 122311491 122322640 - 123745517 123756863 - 1580863;6480464 15342556;7566098;9506968;17353931;17689689;17217620;15840587;15489334;14985111;14744761;13679870;12477932;10938106;10877824;9331572;22427660;20555355;20523938;19279387;19513502;19585490;19679565;16159877;20541561;20727496;21187770;21328460;21740085;19322201;21865592;22242598;22379092;22791769 8099 F5GZF0;O14519 AA295789;AA477326;AB006077;ABBA01060429;ABBA01060430;AC068768;AF006484;AI139790;AMYH01004837;BC034717;BP290637;CB964037;CH471054;DR759851;N41298;NM_001270433;NM_001270434;NM_004642;NR_073007;NR_073008 AAC77831;AAH34717;ABM82207;ABM85394;BAA22937;EAW98398;EAW98399;EAW98400;NP_001257362;NP_001257363;NP_004633;O14519 Hs.433201 1725731;2111764;2143948;2169735 D11S4467;G62121;RH15673;SGC31687 DOC1;DORC1;ST19;doc-1;p12DOC-1 CDK2-associated protein 1;Deleted in oral cancer-1;OTTHUMP00000239636;OTTHUMP00000239637;OTTHUMP00000239638;OTTHUMP00000239639;OTTHUMP00000239640;cyclin-dependent kinase 2-associated protein 1;deleted in oral cancer 1;putative oral cancer suppressor APPROVED protein-coding ENSG00000111328 14002 03726 602198 REVIEWED 1347592 CDK5PS cyclin-dependent kinase 5 pseudogene 8 8 q24.13 123850694 123851623 + 123781468 123782557 + 359946;392265 ABBA01037860;AC016405;AMYH01019003;NG_022432 1726323 G62462 pseudo 21261 INFERRED 1313116 CDK20 cyclin-dependent kinase 20 The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009] 9 9 9 q22.1 61147072 61155417 - 89771176 89779487 - 90581356 90589695 - 6480464 12477932;18508765;18391951;16552187;15489334;15164053;14597612;20466538;18029348;19672860;19884882;8889548;22875024;21747169;19471022;21906983;21986944;16954377 23552 Q8IZL9 ABBA01016504;AF035013;AF113130;AF547664;AI479563;AK075325;AK226135;AK291713;AK294193;AK296328;AK298993;AL353572;AMYH01021486;AY904367;BC002655;BF966262;BI757318;BM982394;BX647489;CB992644;CH471089;CQ783936;DB469301;NM_001039803;NM_001170639;NM_001170640;NM_012119;NM_178432 AAC98920;AAF43778;AAH02655;AAN28684;AAW82349;BAF84402;BAG52110;BAG57509;BAG59019;BAG61083;CAF86933;EAW62743;EAW62744;EAW62745;EAW62746;EAW62747;EAW62748;EAW62749;NP_001034892;NP_001164110;NP_001164111;NP_036251;NP_848519;Q8IZL9 Hs.522274 1689610;1768710;2140506;2218748 A005E17;CCRK__4529;RH92616;WIAF-2079 CCRK;CDCH;PNQALRE CAK-kinase p42;CDK-activating kinase p42;OTTHUMP00000021607;OTTHUMP00000123392;OTTHUMP00000123393;cell cycle-related kinase;cell division protein kinase 20;cyclin-dependent kinase 20;cyclin-dependent protein kinase H;cyclin-kinase-activating kinase p42 APPROVED protein-coding ENSG00000156345 21420 13010 610076 REVIEWED 1604051 CDK2AP2 cyclin-dependent kinase 2 associated protein 2 This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 11 11 11 q13 64608370 64610504 - 67030544 67032678 - 67273968 67276102 - 6480464 15489334;14985111;14702039;12477932;10082655;16169070;21832049;21900206 10263 E9PKR4;E9PQJ3;O75956;Q6IAV4 ABBA01024030;AF089814;AK001498;AK308725;AK310197;AMYH01003747;AP001184;BC002850;BC016704;BI763791;BM559572;BQ016039;BT006909;CB988039;CH471076;CR457050;CR542042;DB117561;NM_001271849;NM_005851;NR_073484 AAC61745;AAH02850;AAH16704;AAP35555;BAG50926;CAG33331;CAG46839;EAW74644;NP_001258778;NP_005842;O75956 Hs.523835 2117977 SHGC-34148 DOC-1R;FLJ10636;p14 CDK2-associated protein 2;DOC-1-related protein;OTTHUMP00000236421;OTTHUMP00000236423;cyclin-dependent kinase 2-associated protein 2;tumor suppressor deleted in oral cancer related 1;tumor suppressor deleted in oral cancer-related 1 APPROVED protein-coding ENSG00000167797 30833 13242 REVIEWED 1352010 CDK2 cyclin-dependent kinase 2 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein kinase is highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2. It is a catalytic subunit of the cyclin-dependent protein kinase complex, whose activity is restricted to the G1-S phase, and essential for cell cycle G1/S phase transition. This protein associates with and regulated by the regulatory subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A) and p27Kip1 (CDKN1B). Its activity is also regulated by its protein phosphorylation. Two alternatively spliced variants and multiple transcription initiation sites of this gene have been reported. [provided by RefSeq, Jul 2008] 12 12 q13 54646826 54652835 + 56360556 56366568 + 1580863;2298988;2296067;2293561;2298990;2293557;2289230;2293560;2293563;2298989;2293558;2289284;6480464;6484113;6907045 11585414;18299147;16740772;9673386;18236071;17483252;16648554;17893107;9426687;16924466;16534847 10548110;1653904;8692841;17353931;10767298;9933170;1312467;7799941;9840943;11907280;1396589;7629134;10323868;10339564;10454565;11231585;11340163;11931757;15226314;15707391;16109376;19321444;19258477;19201832;19197163;19124506;19103742;19101503;19091404;19066288;19061641;18941885;18806832;18784074;18667424;18635963;18617527;18507837;18470542;18408738;18400748;18372919;18345036;18281541;18276582;18208561;18202766;18199752;18198356;18174243;18156799;18042686;17713927;17638878;17495531;17409409;17386261;17371838;17361108;17293600;17207508;17192257;17095507;17038621;17013093;17001081;16912201;16912045;16824683;16765349;16762841;16707497;16582606;16575928;16540140;16519687;16517729;16504183;16458891;16407256;16381901;16376875;16343435;16262700;16258277;16174846;16150942;16085226;16082227;16082200;16036217;16027724;15964852;15944161;15922732;15890360;15707957;15695825;15671017;15665273;15660127;15649889;15635413;15632290;15619620;15611625;15611077;15607961;15601848;15572662;15489336;15489334;15456866;15355984;15309028;15302935;15241418;15232106;15226429;15199159;15178429;15159402;15144186;15063782;15030318;15024385;15024056;15004027;14993212;14985333;14701826;14694185;14646596;14645251;14615539;14612403;14597612;14562046;14551212;14550307;14536078;14506259;12972555;12954644;12947099;12915577;12912980;12857729;12853968;12839982;12839962;12810668;12801928;12800980;12745075;12732645;12729791;12676926;12676582;12560341;12531694;12477932;12388094;12361598;12239611;12185076;12149264;12140288;12114499;12096339;12081504;12064478;12049628;12036888;11980914;11953320;11884610;11781834;11781350;11698641;11684017;11532001;11463386;11395479;11310559;11278991;11259605;11238922;11175348;11113184;11102515;11076863;11042687;10995386;10938106;10938080;10934208;10930425;10924145;10908655;10884347;10878006;10846177;10827081;10748174;10747897;10639311;10602502;10593981;10559988;10432313;10386600;10373534;10373465;10348343;10207050;10202152;10095772;10082561;9889196;9885575;9858585;9840932;9710583;9677190;9632813;9545286;9525916;9472014;9464540;9372912;9334743;9315635;9311822;9223324;9199321;9192873;9188854;9178893;9150368;9139732;9041194;9029153;9019396;8917641;8806683;8756624;8756328;8684460;8647814;8626527;8617791;8610110;8601310;8510751;8275715;8259214;8242751;8242750;8230483;8101826;8033213;7969176;7743995;7716549;7630397;7569954;1717994;1714386;1388288;17083724;16289656;15050687;11264176;8565853;15355997;10559858;9858587;9891079;10748114;8127873;12417722;7644510;15004009;12529437;11069302;9566895;9731206;10877824;8764100;11302688;7780738;14530271;15469821;8475101;15652749;9632134;9546435;8662825;8463339;9467962;9244350;22474407;10585280;10499802;10874474;10918595;11132966;14681231;15169570;15514162;15670215;15753125;16191191;16446360;16951407;17224799;17431037;17671428;17927916;16205633;12684681;11477082;12949733;12970441;14612406;22654103;17970072;21325496;22467868;11940657;12190313;12383116;15173007;15998794;16985050;18285702;18471975;18604603;18632610;19556892;21145461;22087225;9636170;20444741;20399812;19225156;20098747;19960406;20079829;20422243;11598016;15557281;15647383;20935635;20844047;10330164;10574912;12791985;15800615;15800651;16326706;16479163;16777603;16826239;17254966;17274640;17409098;19440053;19594747;19596857;19609547;19631451;19703905;19706521;19723060;19724860;19738611;19797611;19822658;19829063;19838212;19838216;19854217;19858290;19885547;19966300;20017906;20062077;20068231;20102411;20147522;20195506;20508983;9054499;20512928;20694007;20711190;16822311;20465575;21099355;21048031;16159883;16226712;21062975;21262353;19166026;21454540;15003538;15282296;15855168;16782892;21447625;7553852;10652300;20587660;21596315;21704044;21565702;21646351;21233845;21658603;19483727;21515670;19423708;19686743;20837141;21148318;8692842;10995390;10995387;19238148;22819841;21319273;11377199;12044161;9258347;9380698;21769424;21871181;21952639;12757710;18781797;20733051;21918011;21965652;22318606;22623531;8393783;8397206;8397207;8647086;8867812;9053846;9218599;9380407;9658399;9716181;9724724;9840927;10198259;10359664;10393546;18615582;22158041;16223725;21139048;21890473;21906983;23643165;23671119;23776205;10447003;11063125;13678583;15772084;16979657;18559665;19270695;19622356;20160477;20871633;21264535;21699904;21941773;22479189;22768111;8978686;9311993;15980415;19773423;19786724;21372285;7903056;22231403;18850315;21088490;21804548;22084169;12963725;22951823;8606778;23065011;23185313;23479742;10022118;12244298;15530371;16009130;19470470;23140174;8641969;9811456;9886493;10486249;15189033;15828833;23390492;23390529;23455922;14656438;15455144;16962592;17053782;22951725;12191604;19805454;21241890;21840486;21963094;21988832;22770219;23000965;9660939;22718829;22927831;12941338;15147269;15811853;17631934;17661632;18455747;19732026;19603446;20956357;21651489;21697511;22505724;22673765;15583032;16290148;16327805;17254967;21092281;23028682;23064645;23082202;23184662;9190208 1017 E7ESI2;G3V317;G3V5T9;P24941 AA810989;AB012305;ABBA01008397;AC025162;AC034102;AF512553;AK291941;AK293246;AMYH01004497;BC003065;BJ991087;BT006821;CH471054;M68520;NM_001798;NM_052827;U50730;X61622;X62071 AAA35667;AAH03065;AAM34794;AAP35467;ABM84693;ABM92215;BAA32794;BAF84630;BAG56780;CAA43807;CAA43985;CAL38014;EAW96856;EAW96857;EAW96858;EAW96859;EAW96860;NP_001789;NP_439892;P24941 Hs.19192;Hs.689624 1668514;1725283;1778245;1789819;1789821;1789823;1794926;1795550;2132882;2191269 CDK2_529;MARC_16937-16938:1017082126:1;PMC85407P1;RH118926;RH45696;RH70858;SHGC-12640;csnpcdk2-pcr1-1;csnpcdk2-pcr5-1;csnpcdk2-pcr7-1 p33(CDK2) OTTHUMP00000244047;OTTHUMP00000244049;OTTHUMP00000244050;OTTHUMP00000244052;cdc2-related protein kinase;cell devision kinase 2;cell division protein kinase 2;cyclin-dependent kinase 2;p33 protein kinase APPROVED protein-coding ENSG00000123374 1771 00310 116953 REVIEWED 1353695 CDK3 cyclin-dependent kinase 3 This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. [provided by RefSeq, Jul 2008] 17 17 q25.1 71509014 71513251 + 73996987 74002080 + 727582;1580863;6480464 1639063 18029348;17192257;17081983;16964243;16344560;15951569;15084261;14702039;12477932;12097586;11955625;11733001;9811456;9150368;8846921;8626584;8626531;8242750;7882308;22654103;21145461;18794154;9840943;21067790;21832049;17620599;19953087;21139048;21903422;21906983;9190208 1018 K7EJ83;K7ELV5;Q00526 ABBA01028762;AC040980;AMYH01008636;AU146328;AY789470;BC128406;BU784937;BX098771;CH471099;DB455174;NM_001258;X66357 AAI60074;AAV40830;CAA47001;EAW89353;EAW89354;EAW89355;NP_001249;Q00526 Hs.706766 1684882;1720389;1739655 D17S1728E;G58997;RH94374 OTTHUMP00000206828;cell division protein kinase 3;cyclin-dependent kinase 3 APPROVED protein-coding ENSG00000250506 1772 00446 123828 VALIDATED 1349470 CDK5R2 cyclin-dependent kinase 5, regulatory subunit 2 (p39) The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008] 2 2 2 q35 213594140 213596619 + 219532642 219535121 + 219824350 219826877 + 1580863;6480464 7592934;15917097;15815621;12761178;12477932;12223541;11784720;11320080;10965112;10923673;10683146;20518484;20936377;23251661 8941 Q13319;Q96G76 ABBA01023853;ABBA01023854;AC097468;AI084857;AMYH01011499;BC009910;BC041771;BG703026;BT007437;CH471063;DQ307839;NM_003936;U34051 AAC50278;AAH41771;AAP36105;AAX88916;ABB96255;EAW70662;NP_003927;Q13319 Hs.158460 1700018 RH103621 NCK5AI;P39;p39nck5ai CDK5 activator 2;OTTHUMP00000164101;cyclin-dependent kinase 5 activator 2;cyclin-dependent kinase 5 activator isoform p39i;cyclin-dependent kinase 5 regulatory subunit 2;neuronal CDK5 activator isoform;p39I APPROVED protein-coding ENSG00000171450 1776 04790 603764 REVIEWED 732061 CDK4 cyclin-dependent kinase 4 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008] 12 12 q14 56428270 56432431 - 58141510 58146230 - 1580863;704404;1358139;704385;625485;2314609;2314610;2314611;2293577;2289663;2293574;2289144;2299055;2289135;2299054;2289284;2289153;2293583;2296041;2299057;2293560;2293576;2293580;2299056;2293579;2293581;2314613;2293582;6480464;6907045;7240710 12163013;12070150;19634152;19695727;18678431;16413469;18082050;18301453;16896691;14648178;17962342;17692085;16534847;15797629;9916925;11358847;11311493;16648554;16440198;15161057;11971182;15991006;14522882;10319860;18310289 19960406;20196171;21336260;12036888;12006580;11982759;11971966;11884610;11828258;11779854;11684017;11668523;11426564;11310559;11254741;11254678;11157749;11120786;10908655;10788489;10748174;10713676;10639311;10602502;10601020;10580009;10499802;10353443;10342870;10022835;9837900;9425228;9396813;9380698;9315635;9311594;9244350;9228064;9192850;9163429;9150368;9139732;9111314;9110174;9003781;8703009;8666233;8626527;8619474;8528263;8449399;8275715;8259215;8221695;8139570;8001816;7739548;7739547;7652577;7606365;7568034;7478582;2948189;15050687;8101826;8805225;11360184;14641107;9482104;8999999;10491434;12857727;8662825;11556834;11291051;12082615;12077343;9106657;11896535;15232106;15558030;16169070;16326706;17274640;17353931;17517622;7603984;17420273;9190208;16782892;16109376;19327170;19320745;19258477;19238106;19237565;19237555;19143767;19141386;19124506;19040567;19011513;18949380;18827403;18823025;18803811;18799615;18776921;18710949;18703151;18676680;18636124;18632627;18628440;18507837;18484097;18413728;18361427;18281541;18202766;18174243;18023021;18006822;17909018;17895748;17892862;17664862;17556661;17530187;17505264;17409409;17304504;17139501;17072968;17047042;17043357;16949366;16913845;16690963;16601140;16582606;16476733;16189514;15880589;15860862;15821902;15761153;15505422;15489334;15480536;15241418;15208653;15169919;15065884;15024701;15004027;14754892;14701845;14694185;14672406;14647432;14646596;12731669;12680219;12601350;12565795;12545164;12531694;12529334;12477932;12357246;12130539;15003538;21099295;21317707;21383967;16758952;17334399;21426400;21455311;11900540;17540176;18291362;18624751;19075005;19170196;19197163;19320462;19430707;19447967;19487459;19625176;19626636;19692168;19737942;19738611;19861461;19890848;19917880;19935879;20100483;20102411;20179208;20354191;20453000;8078588;8114739;8741839;9529249;22733811;15695403;18769160;20819778;20842456;21048031;21085193;8756624;18839518;19913121;20581865;20628086;10585280;11132966;12519773;12684681;12949733;15169570;16205633;21675959;19225156;20951943;11395479;20534551;16449650;20601938;20939487;18537972;21062975;20713460;21042715;21051013;21419342;20837141;21148318;22654103;20618617;21053367;10202152;17015477;22905154;9545286;23383273;21278246;21325289;21715330;20736297;17205132;9372967;22825724;21412176;22052559;21477379;21593195;21559334;21952639;21777578;18781797;19080374;21139048;21890473;21900206;21903422;21906983;19470470;9840932;23324348;23707388;22289176;22301498;22301501;22315411;18850315;10447003;17881001;8978686;9311993;10049762;10198259;10359664;17620599;18615582;22158041;22318606;8647086;8867812;9178893;9632134;9658399;9716181;21988832;22094256;22939624;11940657;12036906;12190313;12383116;15998794;16985050;17374178;18285702;19556892;21145461;12509456;21832049;22357515;22939629;9199321;9464540;10486249;12676926;16962592;17053782;23455922;23543736;23622515;23718855;22394260;23529275;22418736;10719365;11867521;15147269;15922743;22053931;22505724;23292829;17955473 1019 B4DNF9;F8VTV8;F8VWX7;F8VXD2;F8VYH9;F8VYY1;F8VZ13;F8VZ51;F8VZZ0;F8W1L8;P11802;Q96BE9 ABBA01026694;AC025165;AF507942;AK297901;AK310724;AK313701;AMYH01004524;BC003644;BC005864;BC010153;BC015669;BI832658;BQ773564;CH471054;CR407668;CR542247;M14505;NG_007484;NM_000075;S67448;U37022;U79269;U81031;Z48970 AAA35673;AAB50213;AAC39521;AAC50506;AAD13991;AAH03644;AAH05864;AAH10153;AAH15669;AAM23014;ABM84063;ABM87419;BAG36447;BAG60221;CAA88834;CAG28596;CAG47043;EAW97058;EAW97059;EAW97060;EAW97061;EAW97062;NP_000066;P11802 Hs.95577 1646015;1744027;1745025;1793674;2139876;5015961 D12S1972;D15S1477;GDB:384863;GDB:593068;PMC25103P2;STS-M14505 CMM3;MGC14458;PSK-J3 OTTHUMP00000243624;OTTHUMP00000243627;OTTHUMP00000243628;cell division kinase 4;cell division protein kinase 4;cyclin-dependent kinase 4;melanoma cutaneous malignant, 3 APPROVED protein-coding ENSG00000135446 1773 00447 123829;609048 REVIEWED 70825 CDK5 cyclin-dependent kinase 5 7 7 q36 150381832 150385929 - 150750899 150755052 - 727582;734739;734741;734740;1580863;6480464;6484113;6907045 1639063;11268215;11343650;14502288 8090221;19615060;19514268;19514267;19514266;19343042;19050041;19001851;18676680;18598350;18490454;18487454;18480410;18460467;18408012;18350355;18326489;17713927;17611284;17581253;17493033;17491008;17145757;17121855;17060323;17045592;17036052;16519508;16413130;16407256;15917097;15911879;15890360;15790807;15741232;15492003;15489334;15345747;15342556;15178331;15123618;15030318;15013773;14741103;14704270;14521924;12972605;12963086;12855954;12832492;12826674;12824184;12796778;12769842;12765608;12691662;12690205;12491158;12477932;12435421;12387894;12372407;12372285;12226093;12223541;12154070;12084709;12077184;12071639;12064478;12056836;11955625;11882646;11865137;11823425;11784720;11743029;11741927;11733001;11684694;11675505;11604394;11583627;11483158;11311121;11278541;11254741;11181841;11168528;11113134;11104762;10995546;10936190;10896159;10884347;10762698;10721722;10683146;10604473;10544291;10500146;9832145;9771888;9735171;9614189;9596352;9565682;9546672;9478941;9422379;9396813;9353289;9199504;9150368;9013862;8891282;8764598;8702879;8275715;8090222;7949095;7834371;7566346;1330687;1181841;11389014;9244350;10915792;11163260;12832520;9038181;12970441;22654103;19913121;19960242;20516069;20628086;20651683;20345761;20234188;20720012;16712791;20213743;20491486;20013135;11320080;15652488;16862120;17078951;17290217;17327227;17591690;19170196;19625176;19692168;19718565;19764350;19822667;20133653;20379614;20453000;20357208;21044075;21145489;19693690;16356933;20673369;20826806;21209322;21220307;21435449;15489224;22990118;9545286;22874667;21712386;21289309;21335063;21844361;21415596;21163940;21832049;22939629;18042622;21482751;20354813;21600237;21900206;22223639;19363486;20360068;21671254;21741478;21825040;21799006;10049762;15834155;18076569;19953087;21139048;21890473;21465480;21924349;19700222;21701498;22768111;21922195;17419807;17762160;22753194;16327995;19805454;21963094;21987572;22696682;22547140;22899714;23362255;23543736;22778260;17906618;18247371;22505724;22829587;11516829;23455922;22833568 1020 Q00535;Q6IAW3 AACC02000108;ABBA01035167;AC010973;AK026533;AMYH01018142;AY049778;AY927560;BC005115;BP309068;BT006680;BU527089;CA429180;CB114175;CH471173;CR457041;DB487008;DQ411039;L04658;NM_001164410;NM_004935;X66364 AAH05115;AAL15435;AAP35326;ABD66016;CAA47007;CAG33322;EAL24498;EAW54049;EAW54050;EAW54051;NP_001157882;NP_004926;Q00535 Hs.647078 1651224 SGC30025 PSSALRE OTTHUMP00000212917;OTTHUMP00000212939;TPKII catalytic subunit;cell division protein kinase 5;cyclin-dependent kinase 5;protein kinase CDK5 splicing;serine/threonine-protein kinase PSSALRE;tau protein kinase II catalytic subunit protein-coding 1774 00449 123831 VALIDATED 1343382 CDK7PS cyclin-dependent kinase 7 pseudogene 2 2 2 q24.1 151680025 151681214 - 157774993 157776332 - 158066848 158068037 - 9847074 220786 ABBA01004843;AC016732;AMYH01011194;NG_001572 2185662 RH70920 pseudo 18614 INFERRED 733787 CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008] 17 17 q11.2 27838218 27842384 + 30814105 30818271 + 704409;1580863;6480464;6484113;6907045 11125071 15123618;10721722;12223541;7592934;10915792;8090221;19154537;18325333;18247371;18053171;17496813;17493033;17491008;17121855;17060323;17036052;16678793;16425041;16407256;16189514;15917097;15741232;15536496;15492003;15489334;15342635;15175076;14976144;14702039;12859671;12832520;12832492;12826674;12688339;12491158;12477932;12230554;12226093;12084709;12037672;11882646;11784720;11741927;11604394;11583627;11389014;11168528;11113134;10830966;10753743;10604467;9933594;9010203;7556643;9038181;17762160;20354813;14521924;15013773;17591690;18829967;19638632;19874574;19081376;20518484;20097924;17207965;19913121;20628086;15689152;21220307;15489224;23151508;21832049;21625387;21544067;20618441;21772061;22654103;19953087;21130530 8851 J3QRB5;Q15078;Q8N619 ABBA01000719;AC079336;AK095754;AMYH01008337;AY376350;BC020580;BC026347;BC030792;BC032081;BC035448;BT019573;CH471147;NM_003885;X80343 AAH20580;AAH26347;AAH30792;AAQ74776;AAV38380;ADQ33201;CAA56587;EAW80227;EAW80228;NP_003876;Q15078 Hs.500015 1646295;1655873;1679058;1734520;1797382;1852598;2139382;2151896;2161236;2180762 A004P02;CDK5R1_1797;D17S1369E;D17S1458E;D17S1558;RH25988;RH66802;RH70922;SHGC-63466;SHGC-63467 CDK5P35;CDK5R;MGC33831;NCK5A;p23;p25;p35;p35nck5a CDK5 activator 1;OTTHUMP00000163708;TPKII regulatory subunit;cyclin-dependent kinase 5 activator 1;cyclin-dependent kinase 5 regulatory subunit 1;neuronal CDK5 activator;regulatory partner for CDK5 kinase;tau protein kinase II 23kDa subunit APPROVED protein-coding ENSG00000176749 1775 04586 603460 REVIEWED 1349857 CDK8PS cyclin-dependent kinase 8 pseudogene 359940 18995 1347674 CDK5RAP2 CDK5 regulatory subunit associated protein 2 This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 9 9 q33.2 122190968 122382258 - 123151147 123342437 - 632478;1580863;6480464;7240710 10721722 14654843;10915792;19282672;18042621;17959831;17081983;16631324;16565220;15793586;15489334;15164053;14702039;12477932;10997877;10677332;16169070;12421765;20466722;20339536;11076968;11882646;12221128;12852856;15184881;16462731;17764569;19553473;20080800;20139723;20200978;20201926;7790358;21346412;21512315;18029348;21963094;21988832;20360068;21297427;21139048;21890473;21906983;20301772;23455922;23587236;21135143;22505724 55755 B1AMJ5;B3KVI2;B9EG74;C9K0C9;F8WBJ0;F8WCI3;F8WF55;Q5JTU8;Q7Z3M0;Q9NV90 AB046853;ABBA01016249;ABBA01016250;ABBA01016251;AF087969;AF448860;AK001729;AK025867;AK027636;AK122913;AL133161;AL138836;AL353736;AL391870;AL590642;AL833481;AMYH01021687;AMYH01021688;BC004526;BC019577;BC136275;BC143732;BC143734;BC143753;BC143755;BC143760;BC143762;BC143764;BC146782;BK005504;BQ428975;BX471011;BX495012;BX537421;BX537708;BX537759;BX640896;BX953708;BX953750;CH471090;CR936622;CR936717;HI574114;HI574116;NG_008999;NM_001011649;NM_001272039;NM_018249;NR_073554;NR_073555;NR_073556;NR_073557;NR_073558 AAH04526;AAH19577;AAI36276;AAI43763;AAI46783;AAP41926;BAA91865;BAB13459;BAB15263;BAB55253;BAG53794;CAB61487;CAD97663;CAD97819;CAD97828;CAE45944;CAI56765;CBX47546;CBX47547;DAA05504;EAW87457;EAW87458;EAW87459;EAW87460;EAW87461;EAW87462;EAW87463;NP_001011649;NP_001258968;NP_060719;Q96SN8 Hs.269560 1342068;1653333;1701226;1856801;1856803;2128725;2156339;5493930 A005L20;AB056817;D9S1099;D9S290;G20308;RH104241;STS-T23995;WI-15097 C48;Cep215;DKFZp686B1070;DKFZp686D1070;KIAA1633;MCPH3 CDK5 activator-binding protein C48;CDK5 regulatory subunit-associated protein 2;OTTHUMP00000022800;OTTHUMP00000215329;centrosomal protein 215 kDa;centrosome-associated protein 215 APPROVED protein-coding ENSG00000136861 18672 09740 604804;608201 REVIEWED 1602114 CDK5RAP1 CDK5 regulatory subunit associated protein 1 This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] 20 20 20 q11.21 28700397 28743101 - 31410306 31452998 - 31946645 31989337 - 6480464 10721722;15231747;10915792;11882646;15489334;15329498;14702039;12477932;11780052;11042152;10810093;8125298;19913121;20628086;20677014;20585627;21890473;21906983;22422838;22534366;16341674;16344560;21963094;23000965 51654 H0Y721;Q675N4;Q9NZZ9 AA721451;ABBA01019235;AF152097;AF161516;AK023992;AK027449;AK095644;AK222745;AK292075;AK295342;AK309906;AK314532;AL355392;AMYH01011854;AY462283;AY462284;BC001215;BC050706;BM792566;BM834342;BQ072829;CH471077;CX785345;DA028522;DA565688;DC427896;DR156307;NM_001278167;NM_001278168;NM_001278169;NM_016082;NM_016408 AAD34147;AAF29131;AAH01215;AAH50706;AAS18317;AAS18318;ADZ15737;BAB14760;BAB55120;BAD96465;BAF84764;BAG58313;EAW76318;EAW76319;EAW76320;EAW76321;EAW76322;EAW76323;EAW76324;EAW76325;NP_001265096;NP_001265097;NP_001265098;NP_057166;NP_057492;Q96SZ6 Hs.435952 1645095;2127340;2132682;2144892;2180933;5022651 D11S2921;RH66064;RH66068;SHGC-30922;SHGC-30966;STS-AA010391 C20orf34;C42;CDK5RAP1.3;CDK5RAP1.4;CGI-05;HSPC167 CDK5 activator-binding protein C42;CDK5 activator-binding protein C42-like;CDK5 regulatory subunit-associated protein 1;OTTHUMP00000030645;OTTHUMP00000030646;OTTHUMP00000030647 APPROVED protein-coding ENSG00000101391 15880 12189 608200 REVIEWED 731437 CDK5RAP3 CDK5 regulatory subunit associated protein 3 This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013] 17 17 q21.32 43403428 43414146 + 46048429 46059147 + 632478;1580863;6480464 10721722 17043677;17353931;17785205;10915792;19223857;17549666;16173922;16012757;15790566;15489334;15457556;14702039;12737517;12477932;12054757;11882646;8125298;16169070;17207965;19541669;20228063;21283629;22860085;21385901;20164180;21394385;17342744;21465471;21139048;21890473;21906983;18781797;20639865;21971960;22028922;21963094;21988832;23000965;23478299;16344560;22949513;22053931;22505724;23028987 80279 F5H3I5;J3KRI2;J3KRK4;J3KS63;J3KSD0;J3KTA5;J3QL86;J3QL95;J3QQS7;J3QQY1;J3QRM1;J3QRX0;J3QS62;Q96JB5 AA427702;AB062433;ABBA01041150;AC018521;AF110322;AF217982;AF343090;AK000260;AK023722;AK223387;AK225274;AK300643;AK301739;AMYH01008451;BC009957;BC013407;BC072435;BM908175;CH471109;DA410409;DA410477;DB075547;DB515989;NM_001278197;NM_001278198;NM_001278216;NM_001278217;NM_176096 AAG17225;AAG39277;AAH09957;AAH72435;AAK69655;ADQ32625;BAB14657;BAB93496;BAD97107;BAG63203;BAH13320;EAW94772;EAW94773;EAW94774;EAW94775;EAW94776;EAW94777;EAW94778;NP_001265126;NP_001265127;NP_001265145;NP_001265146;NP_788276;Q96JB5 Hs.20157 1675021;1721553;1739641;2114309;2165822 D17S1721E;G59781;IB3577;RH65642;WI-11758 C53;HSF-27;IC53;LZAP;MST016;OK/SW-cl.114;PP1553 CDK5 regulatory subunit associated protein IC53-2;CDK5 regulatory subunit-associated protein 3;LXXLL/leucine-zipper-containing ARFbinding protein;cdk5 activator-binding protein c53;ischemic heart CDK5 activator-binding protein C53 APPROVED protein-coding ENSG00000108465 18673 12190 608202 REVIEWED 1348539 CDK8 cyclin-dependent kinase 8 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the 'Mediator-like' protein complexes and the basal transcription machinery. [provided by RefSeq, Jul 2008] 13 13 q12 25726756 25876569 + 26828756 26978569 + 1580863;6480464 7568034;14638676;16109376;19240132;19047373;18794900;18794899;18418385;17612495;17212659;15546612;15175163;14983011;12584197;12477932;12145330;12007796;11441538;11416138;11278802;10993082;10235266;10198638;10024883;10023686;9734358;9710619;9443979;9121429;8700522;8274451;11867769;9315662;9150135;9305922;14759369;9159119;10353252;20720539;20514474;15989967;19790197;19914168;20083228;20098423;20408451;21344156;18691967;21067790;21179167;21806996;22869755;16204234;11673469;15808511;23322298;20508642;10454562;15328539;23563140;15009212;11834832;14657022;10882111;16799563;22345154;21868449;22318606;22668559;22379099;21729782;23352233;23630251;12549820 1024 F5H6D4;P49336 ABBA01007913;ABBA01007914;AK296084;AK296875;AL159159;AL590108;AMYH01004983;AY702976;BC069634;BC094784;BC104492;BC105950;BC107601;CH471075;L23208;L30109;L30110;NM_001260;X85753 AAH69634;AAI04493;AAI05951;AAI07602;AAU29339;BAG58839;BAG59437;CAA59754;EAX08384;EAX08385;EAX08386;EAX08387;NP_001251;P49336 Hs.382306 1673108;1679003;1744717;2114090;2115299;2162394;2182208;5092918 A009C15;AB052177;D13S1656;G32412;GDB:554857;RH79173;RH80874;SGC32202 K35;MGC126074;MGC126075 CDK8 protein kinase;OTTHUMP00000018158;cell division protein kinase 8;cyclin-dependent kinase 8;mediator complex subunit CDK8;mediator of RNA polymerase II transcription subunit CDK8;protein kinase K35 APPROVED protein-coding 1779 04422 603184 REVIEWED 734279 CDK7 cyclin-dependent kinase 7 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008] 5 5 q12.1 68566471 68609006 + 68530622 68573257 + 1580863;6480464;6907045 16782892;16109376;18676680;17901130;17707548;17628022;17386261;17192257;17012222;16381901;16327805;15695176;15635413;15530371;15489336;15489334;15461668;15328539;15282296;15249124;15220921;14569024;12571245;12477932;12379213;12167161;12140753;12049628;12023960;11445587;11113184;11076863;11062157;11056214;10866664;10734072;10639311;10438593;10428966;10224071;10082552;10066804;10024882;9840937;9832506;9765201;9651670;9570510;9334327;9311822;9184228;9130708;9121429;9056480;9054383;8934526;8849451;8692842;8647641;8628270;15572661;8208544;10801852;9405375;7533895;10583946;8692841;8946909;1939271;2449431;7629134;7799941;9512541;9582279;9790902;10214908;11313499;12393749;12646563;8521393;8208556;8078587;8069918;7944411;7936635;7929589;7885450;10949034;12527756;11062469;16191191;22508988;20622004;10490622;10958691;11584018;12721286;17643375;18029348;18950027;19170196;19487459;19536092;19625176;19667075;19692168;19738611;19941161;20453000;20522537;8666233;9305922;9315662;9372954;9852112;21607529;15009212;21832049;22939629;23064645;15698475;8521818;21315177;11278802;23027873;15876871;11145967;18391197;21157430;22021906;19914168;21139048;21906983;22447844;10393546;17620599;22318606;22379099;8647086;9218599;10993082;23455922;23622515;9315650;19732026;11713533;20467438;21963094;21988832;22902626;22939624;23393140 1022 D6R9G1;D6R9Z2;D6RAD4;D6REC6;D6RF14;D6RFL0;D6RGG9;D6RI01;D6RIG9;P50613 ABBA01048280;AC093223;AC145132;AC145145;AK026509;AK308493;AMYH01015145;AY130859;BC000834;BC005298;BI520184;CA437275;CH471137;L20320;NM_001799;X76171;X77303;X77743;X79193;Y13120 AAA36657;AAH00834;AAH05298;AAM77799;CAA53766;CAA54508;CAA54793;CAA55785;CAA73587;CAL37441;CAL37482;CAL37506;CAL37988;EAW51300;EAW51301;NP_001790;P50613 Hs.184298 1658564;1733362;2108721;2185662 CDK7_2764;D5S1414;RH70920;SHGC-12862 CAK1;CDKN7;HCAK;MO15;STK1;p39MO15 39 KDa protein kinase;CAK;CDK-activating kinase 1;Cdk-activating kinase;OTTHUMP00000125195;OTTHUMP00000222032;OTTHUMP00000222033;TFIIH basal transcription factor complex kinase subunit;cell division protein kinase 7;cyclin-dependent kinase 7;cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase);homolog of Xenopus MO15 Cdk-activating kinase;kinase subunit of CAK;p39 Mo15;protein kinase;serine/threonine kinase stk1;serine/threonine protein kinase 1;serine/threonine protein kinase MO15;serine/threonine-protein kinase 1 APPROVED protein-coding ENSG00000134058 1778 15993 601955 VALIDATED 1312899 CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Alternative splice variants encoding different protein isoforms have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 14 14 14 q21.3 30663847 30729727 - 49866470 49932367 - 50796720 50862617 - 727582;1580863;6480464 1639063 15761153;15499549;12477932;9000130;7595554;22804458;20379614;20125193;22369697 8814 H0YCE5;H0YE65;J3KMW1;Q00532 AA780354;ABBA01018132;ABBA01018133;ABBA01018134;ABBA01018135;AF390028;AK308732;AL359397;AMYH01005723;AY525548;BC104977;CH471078;NM_004196;X66358;X66359;X66361 AAI04978;AAL58838;AAS00095;CAA47002;EAW65714;EAW65715;EAW65716;EAW65717;NP_004187;Q00532 Hs.679430 2154380;2180148;5037552;5109281 D1S1425;D4S2782;D8S2279;RH44521 KKIALRE;P42 CDC2-related kinase 1;OTTHUMP00000178969;OTTHUMP00000228580;cyclin-dependent kinase-like 1;protein kinase p42 KKIALRE;serine/threonine protein kinase KKIALRE;serine/threonine-protein kinase KKIALRE APPROVED protein-coding 1781 10348 603441 REVIEWED 735400 CDK6 cyclin-dependent kinase 6 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009] 7 7 q21-q22 92072171 92301148 - 92234235 92465941 - 727582;1580863;6480464;6907045 1639063 21455311;21738479;8114739;12861051;14985467;15254224;10205165;17420273;12833137;18029348;19453261;19435910;19266077;19145199;19136653;19124506;19110536;19074885;19040567;18823025;18794853;18776921;18607543;18507837;18497076;18438866;18406353;18398432;18391952;18391951;18391950;18361427;18305152;18281541;18174243;18003885;17989712;17909067;17409409;17353931;16713569;16314645;15790678;15761153;15687240;15592455;15504546;15489334;15232106;15221005;14702039;14694185;14627988;12853948;12690205;12592386;12477932;12082615;12006580;11940479;11828325;11804329;11739795;11416152;11374878;11360184;11358847;11124804;10934208;10602502;10514479;10499802;9751051;9751050;9667749;9380698;9164930;9150368;8889548;8001816;7882308;7759865;7566098;18495667;8666233;8805225;10580009;9482104;10339564;10491434;12867429;11971966;11556834;7629134;22654103;21264532;22623979;22683624;21278246;21738478;16548883;17208333;17431401;17517622;17909018;19075005;19343178;19407485;19487459;19584075;19644859;19674979;19738611;19833767;19838216;19863319;20049410;20086245;20100483;20102411;20233754;20331971;20333249;20354191;20439292;20453000;8078588;8741839;19913121;20546612;20628086;18504428;20534551;20630868;20846217;21062975;21042715;20496072;22733811;20618617;21053367;9885575;22476749;23023438;9199321;23178712;20861610;20736297;21555518;21586211;21628465;21172447;22893700;17955473;21952639;22012619;16294322;16767702;21593195;21803798;17623298;21139048;21890473;21906983;22088371;17881001;19322201;22768111;18615582;22318606;9178893;9716181;16985050;20881960;16782892;21840486;22094256;22939624;23000965;23172372;23543736;22053931;22505724;22736304;23178718 1021 A4D1G0;Q00534 AA312213;AACC02000014;AB073601;ABBA01045796;ABBA01045797;ABBA01045798;ABBA01045799;ABBA01045800;ABBA01045801;AC000065;AC004011;AC004128;AC005156;AI023175;AI367890;AI400582;AI738486;AI935072;AK000660;AK055922;AK123134;AK172791;AK313491;AMYH01017691;AV726767;AW665776;AY128534;BC012914;BC027989;BC052264;BC063591;BC065026;BE893003;BG166127;BM542578;BM542629;BM542736;BM905472;BM978533;BQ048881;BQ213893;BQ231384;BQ773638;BU159055;CH236949;CH471091;NG_015888;NM_001145306;NM_001259;X66365 AAH52264;AAM76970;BAG36273;CAA47008;EAL24146;EAW76827;EAW76828;EAW76829;NP_001138778;NP_001250;Q00534 Hs.119882 1651040;1651683;1652454;1654114;1691690;1696824;1696876;1701372;1701408;1711488;1767167;1772375;1772591;1790549;1797384;2123597;2125652;2131623;2138384;2142723;2153429;2154291;2155063;2190473;5022578;5093864 A009Y04;CDK6;CDK6_2114;D1S1423;G32969;G36996;G36998;G36999;G37000;G37001;G42163;G49156;G49183;G49245;HSC197;HSC249;RH104316;RH104334;RH15849;RH17944;RH66680;RH79066;SHGC-33519;SHGC-34899;SHGC-35227;STS-X66365 MGC59692;PLSTIRE OTTHUMP00000162478;OTTHUMP00000208823;cell division protein kinase 6;cyclin-dependent kinase 6;serine/threonine-protein kinase PLSTIRE APPROVED protein-coding ENSG00000105810 1777 04533 603368 REVIEWED 1603844 CDKL4 cyclin-dependent kinase-like 4 2 2 2 p22.1 39246740 39297635 - 39259192 39310177 - 39405688 39456673 - 6480464 12477932;19241098 344387 F8WC88;H7BZI6;Q2NME9;Q5MAI5 ABBA01075028;ABBA01075029;ABBA01075030;AC079615;AC092672;AMYH01010272;AY845084;AY847283;BC144460;CH471053;NM_001009565 AAI72293;AAW30008;AAW31760;EAX00349;NP_001009565;Q5MAI5 Hs.403201 1784240 SHGC-156084 OTTHUMP00000164944;OTTHUMP00000204123;cyclin-dependent kinase-like 4 protein-coding ENSG00000205111 19287 16698 PROVISIONAL 5686927 CDKN1A-AS1 CDKN1A antisense RNA 1 p21.1 19008947 100861512 BX332409 Hs.370771 1653062;1794020 PMC310739P1;RH70551 p21NAT APPROVED miscrna 42399 1321035 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010] 6 6 p22.3 20642667 21339743 + 20534688 21232635 + 2313949;2313941;2313947;2313940;2313946;6480464;7240710 18633108;19401414;18991055;19741467;19002430 19033397;19502414;19422935;19380854;19324937;19279076;19258437;19258404;19247372;19228808;19225753;19174780;19172244;19139842;19082521;19068216;19020324;19020323;19008344;18984664;18923449;18766326;18753662;18719881;18694974;18618095;18597214;18591388;18587394;18544707;18516622;18477659;18469204;18461161;18437351;18426861;18372903;18285412;18264689;18252897;18210030;18162508;17993580;17928989;17804762;17554300;17463249;17463248;17463246;17460697;14702039;12477932;21102463;22437209;20581827;18711366;19056611;19587699;19592620;19602701;19622614;19718565;19720844;19734900;19741166;19794065;19808892;19862325;19892838;19933996;20014019;20043145;20075150;20161779;20203524;20215779;20379614;20384434;20424228;20460429;20490451;20503258;20509872;20847106;20550665;20568056;19913121;20580033;20587610;20616309;20628086;20802253;21139019;19760754;20712903;20816152;20879858;20886065;20889853;20929593;21072187;22487833;21416855;21490949;23048041;22443257;22923468;21368910;21890473;21906983;22096510;22344221;21611789;21908934;22233651;22290723;22344219;21643948;22119613;19322201;22693455;21963094;22504420;23000965;22678362;22961080;23128233;23202124;23251661;23173044;22505724 54901 Q5VV42 ABBA01022259;ABBA01022260;ABBA01022261;ABBA01022262;ABBA01022263;ABBA01022264;ABBA01022265;ABBA01022266;ABBA01022267;ABBA01022268;ABBA01022269;ABBA01022270;ABBA01022271;AK000349;AK024151;AK128546;AK291735;AK309457;AK310219;AL022717;AL033521;AL035090;AL451080;AL512405;AL513015;AL513188;AL513549;AL590129;AMYH01016134;AMYH01016135;BC064145;BC121020;BC121021;CH471087;CS300811;NG_021195;NM_017774 AAH64145;AAI21021;AAI21022;BAA91102;BAC87494;BAF84424;CAK32475;EAW55425;EAW55426;EAW55427;NP_060244;Q5VV42 Hs.657604 1338532;1646341;1647103;1653283;1663265;1704814;1708482;1714863;1714969;1717107;1723575;1748925;1756957;1785864;1788822;1788850;1788860;1788862;1789597;1789599;2126785;2126973;2130781;2177089 AL022495;AL022505;CHLC.GAAT3A06;D6S1665;D6S1950;G17034;G67593;G67594;G67595;G67596;JA01;JA02;RH119731;RH120426;RH120822;RH121472;SHGC-110580;SHGC-112097;SHGC-144125;SHGC-34186;SHGC-79428;SHGC-79876;STS-T97688;STS-W86387 FLJ20342;FLJ46705;MGC75469 CDK5 regulatory subunit-associated protein 1-like 1;OTTHUMP00000016083;tRNA-t(6)A37 methylthiotransferase;threonylcarbamoyladenosine tRNA methylthiotransferase APPROVED protein-coding ENSG00000145996 21050 13022 125853;611259 REVIEWED 1346548 CDK9 cyclin-dependent kinase 9 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008] 9 9 q34.1 129588152 129592184 + 130548305 130553052 + 1580863;6480464 22276149;22483617;16552184;16344560;15965233;15890914;15753651;15713662;15713661;15635413;15564463;15528190;15514168;15489334;15452830;15286705;15201869;15169877;15164053;15049426;15009212;14963154;14701750;14627702;14580347;14569024;12944466;12894230;12887902;12861003;12832472;16109376;10866664;15107825;8170997;18029348;7853496;12676794;19179338;18971272;18829461;18780834;18753202;18566585;18483222;18250157;18218627;18205180;18039861;17998334;17956865;17942552;17502349;17452463;17352406;17251582;17192257;16980611;16841087;16741955;9827693;9811724;9765201;9696809;9651670;9649438;9570510;9557739;9499409;9491887;9356449;9334326;9334325;9258347;8870681;8849451;8676484;7695608;16838299;15994812;16179353;15498776;15905409;16103164;16146763;16035254;15719065;15638724;15473004;15183343;15139295;14984439;11420046;12944920;15546612;12036313;12718890;12651893;12588988;12486002;12477932;12386808;12368330;12368300;12173051;12115727;12065898;12052871;12037672;11884399;11809800;11780068;11739686;11730934;11713533;11713532;11704662;11689688;11689614;11575923;11572868;11549886;11547919;11545735;11504720;11282025;11278802;11266437;11152495;11145967;11118314;11112772;11080476;10983978;10964778;10958691;10944537;10931842;10913173;10912001;10903437;10757782;10671520;10661406;10656684;10617616;10574912;10545121;10536359;10467404;10465067;10454543;10438593;10393900;10393184;10384302;10377393;10364329;10364292;10329126;10329125;10082552;12753906;12727882;10077579;10066804;10064603;10049833;9990016;9872325;9857195;9843510;9832504;22592529;22654103;17700062;20431927;20370601;19818711;19956800;20493174;22895430;12721286;17148452;17255935;17643375;18200011;19387490;19426592;19575011;19741158;19780058;20081228;20190802;20201073;20231357;16601680;16687403;16735508;20805562;20930849;20943989;11673469;20976203;20980437;21127351;20618343;16331689;22863883;22990118;16327805;23064645;23152527;22094252;9184228;17234882;20153263;20603019;20854876;20133760;20811636;21450947;22939629;23027873;23539624;19844166;21555514;21200140;19617712;21030982;21216463;21724609;12591939;18391197;19766566;19914168;21139048;21448926;21555454;21890473;21906983;21987572;16109377;17690245;21729782;21963094;21988832;22939624;23247501;19322201;21699904;22391209;22447844;20305087;22145905;21873227;22379099;23140174;15328539;23455922;23596302;23603988;22959624;11455589;17376917;17537237;17576689;17661632;17907378;18281698;18483487;18655042;18773076;18931076;18976462;18991615;19211771;19275730;19526283;19603446;19716452;19732026;19812265;20012528;20018238;20054825;20227660;20385237;20385240;20471948;20471949;20535204;20551309;20562857;20571604;20683478;20808803;20828615;21149631;21204735;21360054;21709748;21951552;22100159;22190034;22211660;22229121;22253435;22342181;22355797;22377309;22421880;22422068;22505724;22567366;22588304;22771113;22948151 1025 P50750 AB451289;AB451421;ABBA01043844;ABBA01043845;AF255306;AF517840;AK313828;AL162586;AMYH01021734;BC001968;BE549667;BT019903;BX091973;CH471090;DB120461;L25676;NM_001261;X80230 AAA35668;AAF72183;AAH01968;AAM54039;AAV38706;ABM82108;ABM85290;ABM85291;BAG36563;BAG70103;BAG70235;CAA56516;EAW87696;EAW87697;NP_001252;P50750 Hs.150423;Hs.706809 1645490;1645492;1649210;1670962;2106987;2143161;2175486 CDK9_3250.2;D9S2040;RH16566;SHGC-33502;STS-L25676;WI-15190;WI-19919 C-2k;CDC2L4;CTK1;PITALRE;TAK CDC2-related kinase;OTTHUMP00000022198;cell division cycle 2-like protein kinase 4;cell division protein kinase 9;cyclin-dependent kinase 9;serine/threonine protein kinase PITALRE;serine/threonine-protein kinase PITALRE;tat-associated kinase complex catalytic subunit APPROVED protein-coding ENSG00000136807 1780 16016 603251 REVIEWED 731372 CDKL3 cyclin-dependent kinase-like 3 The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 5 q31 129757884 129826544 - 133671591 133730113 - 133634115 133702765 - 1580863;6480464 10463609;18029348;18412109;17945021;15499549;15489334;12927787;12477932;20379614;21832049 51265 B4DGS2;B4DRK6;B4DX41;E5RFT9;E5RGK4;E5RI54;E7ET86;H0YAP8;H0YB17;Q8IVW4 ABBA01068760;ABBA01068761;ABBA01068762;AC104109;AC109454;AF087989;AF130372;AK294559;AK294740;AK297586;AK299305;AK301802;AK310955;AMYH01015623;BC041799;BX104333;CH471062;NM_001113575;NM_016508 AAF36509;AAH41799;BAG57883;BAG59974;BAG61318;BAG63253;BAH11811;EAW62263;EAW62264;EAW62265;EAW62266;NP_001107047;NP_057592;Q8IVW4 Hs.719926 1659366;1699910;2152105;5096607 D5S1947;RH103563;T03714;WI-21654 NKIAMRE OTTHUMP00000226137;OTTHUMP00000226139;OTTHUMP00000226140;OTTHUMP00000226142;cyclin-dependent kinase-like 3;serine-threonine protein kinase NKIAMRE;serine/threonine kinase nkiatre beta;serine/threonine-protein kinase NKIAMRE APPROVED protein-coding ENSG00000006837 15483 608459 REVIEWED 1320063 CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 73797824 73851860 - 76720728 76774745 - 76501704 76555721 - 1580863;6480464 9000130;16631599;15499549;15489334;12477932;9847074;7721825;15502848;21832049;18029348 8999 D6RBJ5;J3KNE8;Q92772 AA813092;ABBA01063344;ABBA01063345;AC096759;AC104828;AC108939;AK294866;AK309127;AK312490;AMYH01014305;BC017417;BC093646;BC093981;CH471057;DB448184;NM_003948;U35146 AAC50918;AAH93646;AAH93981;BAG35392;BAG57969;EAX05740;EAX05741;NP_003939;Q92772 Hs.591698 1740065;2151515 D4S2901;WI-22358 KKIAMRE;P56 CDC2-related kinase;OTTHUMP00000160596;OTTHUMP00000219250;cyclin-dependent kinase-like 2;p56 KKIAMRE protein kinase;protein kinase p56 KKIAMRE;serine/threonine protein kinase KKIAMRE;serine/threonine-protein kinase KKIAMRE APPROVED protein-coding 1782 16021 603442 REVIEWED 1353625 CDKL5 cyclin-dependent kinase-like 5 This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] X X p22 18353646 18581670 + 18443725 18671749 + 1580863;6480464;7240710 16935860;20602487;17474147;19564592;19552836;18809835;18790821;18701457;18266744;18063413;18029348;17993579;17089071;17049193;16611748;16326141;16015284;15917271;15772651;15689447;15635068;15499549;15492925;15489334;12736870;12477932;9721213;8864140;23064044;21309761;20728410;20397747;22678952;20513142;19241098;19428276;19471977;19734009;19740913;19780792;19793311;16226712;21502606;21124335;22921766;22922712;21293276;21318334;22867051;21750574;20493745;21770923;21107515;23151060;22430159;21775177;21765152;20301323;22264704;20467438;21988832;22779007 6792 O76039 ABBA01071641;ABBA01071642;ABBA01071643;ABBA01071644;ABBA01071645;ABBA01071646;ABBA01071647;ABBA01071648;ABBA01071649;ABBA01071650;ABBA01071651;ABBA01071652;ABBA01071653;ABBA01071654;ABBA01071655;ABBA01071656;ABBA01071657;ABBA01071658;ABBA01071659;ABBA01071660;ABBA01071661;ABBA01071662;ABBA01071663;ABBA01071664;ABBA01071665;AI286150;AK307444;AL109798;AL704691;AMYH01022121;AMYH01022122;AY217744;BC010966;BC036091;CH471074;HQ171445;NG_008475;NM_001037343;NM_003159;X89059;Y15057;Z92542 AAI52847;AAO64440;ADN38258;CAA61445;CAA75342;EAW98940;EAW98941;NP_001032420;NP_003150;O76039 Hs.659851 1647290;1651652;1703016;1767943;1775386;1787370;2117966;2118238;2125670;2140532;2141924;2168508;2182674;5019795 A003B18;A009V26;CHLC.GGAT18G07;DXS7038E;DXS8000;DXS8368;G32881;L77279;L77289;RH11240;SGC35640;SHGC-170800;SHGC-32426;STS-H55764 EIEE2;ISSX;STK9 OTTHUMP00000023002;OTTHUMP00000023003;cyclin dependent kinase 5 transcript;cyclin-dependent kinase-like 5;serine/threonine kinase 9;serine/threonine-protein kinase 9 APPROVED protein-coding ENSG00000008086 11411 02190 105830;300203;300672 REVIEWED 5131079 CDKN2AIPNLP1 CDKN2A interacting protein N-terminal like pseudogene 1 1 1 1 q42.12 199871813 199872181 - 224746799 224751679 - 226680181 226681256 - 11181995 391169 ABBA01009639;AL359704;AMYH01001779;CH471098;NG_028305 EAW69786 pseudo 39854 INFERRED 5130800 CDKN2AIPNLP2 CDKN2A interacting protein N-terminal like pseudogene 2 2 2 2 p23.3 26896119 26916815 - 26903541 26904778 - 27049656 27050400 - 100128579 ABBA01045189;AC011740;AMYH01010194;NG_028941 pseudo 39855 INFERRED 6480988 CDKN2AIPNLP3 CDKN2A interacting protein N-terminal like pseudogene 3 13 40391890 40392187 - 100874397 ABBA01021305;AL596306;AMYH01005050;NG_032361 pseudo 39853 INFERRED 1604354 CDKN2AIP CDKN2A interacting protein 4 4 4 q35.1 181698578 181701840 + 184602783 184606043 + 184365789 184369049 + 6480464 19001376;18292944;17460193;16803988;15109303;14702039;12477932;12154087;21145461;8125298;12581788;18555516;22990118;23383273;21052095;22939629;20360068;21903422;19471022;21890473;22145905;22552337 55602 D6RGD2;J3KNE1;Q9NXV6 ABBA01070499;AC112698;AF246705;AK000043;AK096180;AK225848;AMYH01014762;BC022270;BX538162;CH471056;NM_017632 AAF68967;AAH22270;ABZ92045;BAA90902;BAG53225;CAD98042;EAX04691;NP_060102;Q9NXV6 Hs.644077 2113640;5095052 CDKN2AIP;UniSTS:478982 CARF;FLJ20036 CDKN2A-interacting protein;OTTHUMP00000218621;OTTHUMP00000218622;collaborates/cooperates with ARF (alternate reading frame) protein;collaborator of ARF protein-coding ENSG00000168564 24325 16683 PROVISIONAL 1602992 CDKN2AIPNL CDKN2A interacting protein N-terminal like 5 5 5 q31.1 129861552 129871387 - 133765696 133775488 - 133737756 133747598 - 6480464 12477932;21139048 91368 Q96HQ2 ABBA01068760;AC109454;AMYH01015624;BC008293;BC018086;BM997508;CH471062;CS072469;DB480185;NM_080656 AAH08293;AAH18086;ADZ15778;CAI93607;EAW62259;EAW62260;EAW62261;NP_542387;Q96HQ2 Hs.156506 1676029;5022450 D10S275;RH98558 MGC13017 CDKN2A-interacting protein N-terminal-like protein;CDKN2AIP N-terminal-like protein;OTTHUMP00000159388 protein-coding ENSG00000237190 30545 14430 VALIDATED 2302260 CDKN2B-AS1 CDKN2B antisense RNA 1 This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21 locus, which is the strongest genetic susceptibility locus for cardiovascular diseases, and also linked to several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Many disease-associated single-nucleotide polymorphisms in this locus affect the structure and expression of this gene, suggesting that modulation of this gene expression mediates disease susceptibility. This gene interacts with both polycomb repressive complex-1 (PRC1) and -2 (PRC2), and may function as a regulator for epigenetic transcriptional repression. Multiple alternatively spliced transcript variants have been generated from this gene, and all of them are long non-coding RNAs. It has been found that some of splice variants are tissue specific, and different splice variants may have distinct roles in cell physiology. [provided by RefSeq, Jun 2012] 9 9 p21.3 21984790 22111094 + 21994790 22121096 + 19214202;18048406;17478681;17478679;17440112;22578354;22751097;22792221;20541999;21151178;16712791;17463249;18997786;19198609;19578366;19578367;19888323;20395613;20386740;20664976;20574843;20601957;20364137;20453838;20512145;20622881;21531791;21532571;21606135;21378988;21378990;22706276;23091611;23266621;23416462;23561647;22034633;19343170;19592466;20051228;20056914;20619150;20637465;20716961;20858905;20956613;21146954;21151960;21414664;21550161;21828241;21860704;22034006;22122968;22178423;22258902;22382030;22961961;22659877;21971053;22199011;22286173;22428042;22570617;22521085;22886559;23813974;23315372;23142796;23364394;23111177;20548946;22419738 100048912 AB548314;ABBA01065169;ABBA01065170;ABBA01065171;AL354709;AL449423;AMYH01019276;BC038540;BI860238;CB109081;DB451703;DQ485453;DQ485454;EU741058;GQ422823;GQ495918;GQ495919;GQ495920;GQ495921;GQ495922;GQ495923;GQ495924;GQ495925;GQ495926;NR_003529;NR_047532;NR_047533;NR_047534;NR_047535;NR_047536;NR_047537;NR_047538;NR_047539;NR_047540;NR_047541;NR_047542;NR_047543 Hs.493614;Hs.512599 1338997;1340007;1690342;1725615;1733768;1734304;1738453;1738455;1739743;1739835;1745623;1745869;1745871;1759555;1766929;1791382;1794624;1795046;1795050;1795144;2122223;2139960 D9S1083;D9S1604;D9S1605;D9S1748;D9S1752;D9S1814;D9S1870;D9S958;D9S975;G62023;GDB:626109;GDB:679533;GDB:679534;PMC108944P1;PMC33151P2;PMC92514P1;PMC92514P3;PMC99853P1;RH98751;SHGC-151223;SHGC-152418;STS-N34320 ANRIL;CDKN2B-AS;CDKN2BAS;NCRNA00089;RP11-145E5.4;p15AS APPROVED miscrna ENSG00000240498 34341 613149 REVIEWED 1322980 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 11 11 p15.5 2861441 2863551 - 2904448 2906995 - 1580863;2311334;6480464;6907045;7240710 11723059 12239171;12107413;11965547;11891530;11891335;11815601;11301189;10764802;10424811;10323243;9465025;8934543;8889548;8841187;8655143;8640800;8610162;7729683;1786629;15580267;9106657;16943770;18029348;19453261;19340297;19221586;19145201;19141585;19116812;19109226;19064572;18822693;18676680;18647205;18521080;18430730;18325103;17986608;17885492;17572845;17464323;17351341;17112701;17050328;16950772;16936778;16705184;16575194;16357845;16124066;16061564;15985436;15978938;15952111;15936816;15900410;15888726;15821902;15749785;15492797;15489334;15332324;15007390;14671317;14627666;14612924;7729684;14530263;12963725;12947099;12925736;12790805;12586619;12553041;12532471;12514787;12477932;18660753;21048031;20634891;20565244;20626178;19170105;19170196;19386358;19542869;19544095;19544458;19571260;19590511;19616848;19625176;19692168;19734939;20056082;20106982;9840943;20705733;20503313;20301568;20484977;22992698;21205084;22292406;22541097;22079941;21278784;21360479;21575583;19686743;21769918;20360068;21767919;22002319;21963094;22592318;22064387;22569127;22205991;21371741;23153226;21816904;22245958;22233925;22197173;22394561;23008285;23171462;21538272;22126772;23187808;23244105;23197429;22705236;22634751 1028 A6NK88;P49918 ABBA01032079;ABBA01032080;AC013791;AMYH01003323;AMYH01003324;BC039188;BC067842;BM673714;CD676249;CH471158;D64137;NG_008022;NM_000076;NM_001122630;NM_001122631;U22398;U48869 AAA85095;AAB05896;AAH67842;BAA11014;BAA11015;EAX02524;EAX02525;NP_000067;NP_001116102;NP_001116103;P49918 Hs.106070 5491924 MARC_54883-54884:1155673702:1 BWCR;BWS;IMAGE;KIP2;WBS;p57;p57Kip2 OTTHUMP00000011736;OTTHUMP00000011738;OTTHUMP00000229152;cyclin-dependent kinase inhibitor 1C;cyclin-dependent kinase inhibitor p57;p57Kip2 APPROVED protein-coding ENSG00000129757 1786 02913 130650;600856;614732 REVIEWED 1353635 CDL1 Cornelia de Lange syndrome 1 1956066 1792 735341 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental in the execution of apoptosis following caspase activation. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Nov 2010] 6 6 p21.2 36754465 36763087 + 36644237 36655116 + 1580863;2289651;2289652;2289654;2289656;2289659;2289661;2289666;2289672;2289639;2289663;2296047;2289683;6480464;6484113;6907045 18203777;18174243;17090194;16537179;12628841;9006333;17714589;17439406;18237448;18082050;15099969;16837908 20211058;20955243;21443127;21127431;19033664;18243530;15386430;15674334;10323868;8242751;10208428;17553787;9660939;17420273;9106657;9632134;9190208;9840943;11231585;11931757;16782892;19635457;19626602;19538940;19536131;19536092;19513497;19505915;19491257;19487575;19458054;19453261;19435914;19384944;19383287;19367277;19356250;19339270;19332548;19330811;19322021;19305381;19276356;19276188;19275888;19273588;19269967;19262578;19258477;19249676;19237173;19224585;19223555;19221506;19211842;19211566;19177004;19176530;19176223;19161984;19159630;19141585;19129183;19125693;19124506;19122196;19106607;19096232;19091404;19064572;19058005;19041685;19002614;19001415;18981726;18979138;18950845;18949380;18941111;18923142;18852884;18850004;18842998;18829543;18823025;18818310;18806827;18798266;18794348;18794347;18791688;18790797;18788572;18782865;18766473;18765563;18719376;18713757;18703516;18698027;18694622;18655775;18644983;18632985;18619950;18593937;18583941;18563330;18562088;18559599;18546941;18509005;18508827;18507837;18498065;18463164;18459109;18458079;18456456;18451802;18441278;18427550;18413741;18400748;18386236;18385759;18385383;18374497;18361427;18358634;18353898;18348176;18339845;18334933;18316600;18298387;18292944;18281541;18281511;18278446;18251939;21439247;22147197;22160829;22446964;16091736;16082224;16081043;16080520;16078010;16054204;16014176;16012716;15975933;15972853;15965232;15964852;15960923;15944261;15942645;15936816;15905168;15890360;15880942;15880444;15878916;15866118;15840769;15819981;15817070;15807891;15798220;15776189;15767448;15764647;15763542;15756520;15753078;15752352;15750619;15746092;15743834;15743033;15738655;15736438;15735102;15716956;15709169;15708847;15694838;15694358;15690394;15671036;15665816;15665589;15664193;15647383;15645120;15623356;15609309;15606307;15598783;15592362;15582998;15574338;15555546;15528212;15510615;15509808;15497017;15492264;15489336;15489334;15475071;15474507;15456784;15389598;18230337;18226366;18215742;18212054;18205772;18202757;18181833;18174230;18172194;18166158;18162533;18162471;18156402;18097575;18086887;18071305;18067855;18049450;18046503;18035504;18025091;18024214;18004740;17972508;17952758;17941827;17937105;17925548;17920036;17911387;17894409;17885207;17873065;17855660;17804869;17721438;17700068;17692879;17686574;17684142;17682292;17671727;17671689;17671089;17662641;17656367;17641414;17638911;17634558;17627285;17619016;17617120;17616661;17611661;17606716;17595776;17592292;17585201;17560543;17556661;17536310;17517622;17513615;17502456;17498252;17477906;17465503;17460194;17460193;17448597;17443496;17438369;17431791;17409409;17388661;17371838;17351341;17339230;17337084;17325029;17317670;17303651;17300726;17293864;17292858;17286201;17284535;17283049;17239344;17214516;17203174;17188136;17172832;17172426;17158927;17130157;17109628;17108107;17080297;17079872;17079232;17074759;17072949;17062672;17059853;17055654;17054950;17050675;17016640;17014852;17008550;16982699;16964243;16953367;16952553;16951143;16867219;16837471;16835890;16831599;16818630;16804901;16804724;16803887;16777994;16775840;16765349;16735508;16723699;16718778;16712793;16705171;16678112;16616141;16581770;16580634;16551699;16533812;16514663;16507767;16480585;16479163;16464125;16434701;16432835;16394138;16381901;16364249;16344560;16344056;16343435;16289646;16288006;16287849;16283431;16280359;16276353;16262255;16256947;16254341;16248979;16243918;16214366;16199872;16189514;16182613;16150942;16149052;16142340;16142303;16135801;16122475;16111738;9465025;8861969;12417722;9858587;10973963;10912791;12820963;11022036;10581175;16169070;11896572;15856024;10858286;16009130;15989967;11302688;7780738;9178907;8999999;9705499;15893728;8647134;15710329;15780936;15546622;15580267;15765097;15660129;9515786;15321712;9546435;10873631;8560263;15780937;15616584;11733969;11700040;11695244;11684722;11642719;11559705;11498536;11463845;11389691;11350925;11255227;11254741;11179504;11175348;11084299;11076863;10891505;10878006;10848585;10828884;10764767;10753973;10710306;10692450;10679299;10529385;10486249;10455148;10337545;10022926;10022118;9858585;9837900;9822382;9811456;9799125;9798959;9716736;9467962;9396813;9372966;8861913;8807325;8756624;8700517;8662825;8657154;8259214;8242752;8125163;8101826;8084608;7753561;7698009;7655464;7478594;7478582;16554660;15142382;15179054;17679094;12947099;11313979;9545252;11741909;15001356;14981901;14764039;14762439;14761977;14759525;14751560;14744793;14738489;14726710;14719078;14715257;14712207;14702288;14677632;14647439;14642618;14637149;14633995;14628083;14607337;14607331;14597617;14592451;14580260;14574404;14572899;14504476;13678583;12970742;12964161;12963997;12936910;12931225;12930846;12930830;12890637;12885947;12884030;12867429;12855666;15378017;15371446;15371422;15367606;15347670;15342418;15340083;15317660;15309711;15302882;15297421;15291355;15286705;15251435;15240512;15232106;15226418;15201979;15201954;15190207;15184659;15184045;15181148;15173090;15171713;15169570;15161699;15122333;15111320;1510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1026 J3KQV0;P38936;Q6FI05 AA534613;AB209881;AB451290;AB451422;ABBA01038265;ABBA01038266;AF497972;AK298901;AK309512;AMYH01016275;BC000275;BC000312;BC001935;BC013967;BQ941282;BT006719;BU154329;BU193165;CH471081;CR536533;CS284542;CS284544;DA552678;DA582789;DA699672;DA702185;DA838987;HI519528;L25610;L26165;L47232;L47233;NG_009364;NM_000389;NM_001220777;NM_001220778;NM_078467;S67388;U03106;U09579;Z85996 AAA16109;AAA19811;AAA85641;AAB29246;AAB59559;AAB59560;AAC04313;AAH00275;AAH00312;AAH01935;AAH13967;AAM11787;AAP35365;BAD93118;BAG61011;BAG70104;BAG70236;CAG38770;CAJ98559;CAJ98560;CAL37589;CAL37798;CBX54345;EAX03904;EAX03905;EAX03906;EAX03907;NP_000380;NP_001207706;NP_001207707;NP_510867;P38936 Hs.370771;Hs.732576 1653062;1739443;1745411;1791938;1792294;1792398;1793682;1793828;1793830;1794020;1795552;1854443;5014589;5117789 CDKN1A_13;D20S716E;D6S2036;GDB:606724;GDB:607527;PMC133799P1;PMC140670P2;PMC150720P1;PMC25807P2;PMC29718P1;PMC29718P2;PMC310739P1;RH70551;WI-7311 CAP20;CDKN1;CIP1;MDA-6;P21;SDI1;WAF1;p21CIP1 CDK-interacting protein 1;CDK-interaction protein 1;DNA synthesis inhibitor;OTTHUMP00000016297;OTTHUMP00000016298;cyclin-dependent kinase inhibitor 1;cyclin-dependent kinase inhibitor 1a;melanoma differentiation associated protein 6;melanoma differentiation-associated protein 6;p21Cip1/Waf1;wild-type p53-activated fragment 1 APPROVED protein-coding ENSG00000124762 1784 00298 116899 REVIEWED 1344924 CDL2 Cornelia de Lange syndrome 2 1793 69115 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. [provided by RefSeq, Jul 2008] 12 12 p13.1-p12 12761576 12766570 + 12870302 12875305 + 734746;1580863;2299085;2293591;2293608;2293624;2293589;2293594;2293582;2293574;2293610;2293619;2299088;2299091;2293605;2293590;2293616;2293628;2293592;2293615;2293630;2293607;2293623;2293593;2293595;2293627;2299089;2299090;2293596;2289127;2293625;2293626;2289652;6480464;6484113;6907045;7240710 12244302;18691549;18415709;10886076;16557226;18495610;18030569;18310289;18301453;11376116;16805985;17927588;17985331;14760081;18425369;17030811;15698433;18334837;18319192;9321826;12015771;16707124;18174243;18027869;15799773;15701850;15188025;18006855;17924468;16137007;15844214;18174243 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1027 E7ES52;H7C2T1;P46527;Q6I9V6 AB451291;AB451423;ABBA01067848;AC008115;AF213700;AF247551;AF480891;AJ616234;AK298335;AK312461;AMYH01004292;AY004255;BC001971;BG701047;BT019553;BT019554;CH471094;CN311141;CR457399;CS566132;DA948043;HI179180;NG_016341;NM_004064;S76986;S76988;U10906;X84849;Z61220;Z61221 AAA20240;AAD14244;AAF21058;AAF69497;AAF88142;AAH01971;AAL78041;AAV38360;AAV38361;BAG35368;BAG60584;BAG70105;BAG70237;CAA59284;CAE82383;CAG33680;CAL37442;CAL38417;CAL38510;CAL38737;CAN37616;CBX53898;EAW96275;NP_004055;P46527 Hs.238990 1700578;1746721;1754381;1789300;1793918;1794548;1794640;1794968;2143022;2158049;2180002;2180004;2190795 AI843786;CDKN1B;G67939;HUM0C12B05;PMC307617P3;PMC317217P1;PMC337037P1;PMC86551P1;RH103911;RH47126;RH47169;RH69893;SHGC-132395 CDKN4;KIP1;MEN1B;MEN4;P27KIP1 OTTHUMP00000195098;OTTHUMP00000195099;cyclin-dependent kinase inhibitor 1B APPROVED protein-coding ENSG00000111276 1785 02867 600778;610755 REVIEWED 737039 CDKN2A cyclin-dependent kinase inhibitor 2A This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012] 9 9 p21 21957751 21984490 - 21967751 21994490 - 1600814;1600816;1600822;1298567;1600828;1600812;1600820;1358481;1600823;1298747;1358489;2289674;2289675;2289677;2289678;2289680;2289681;2289683;2289686;2289688;2289690;2289698;2289673;2289676;2289679;2289682;2289684;2289685;2289687;2289689;2289699;2296052;2296058;2296049;2296056;2296050;2296051;2296053;2296057;2296066;2296048;2296054;2316081;2316082;6480464;6907045;7240710;7248760;1578522;7248761 17091472;16317707;12359353;11872642;10969811;9168184;12547284;10595918;12189186;11839561;14507338;18060046;17910346;17383681;17369842;17201148;17178860;16837908;16316628;15879498;8686738;9554401;18192968;17415114;17369505;16998595;16799475;16483154;15897688;11037653;15232742;17119258;16406113;18156978;16773633;17493241;17242700;16803529;16415792;12203782;18234280;16778587;18558284;18504326;20065947;16527513;19409458 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1029 G3XAG3;J3QRG6;K7ENC6;K7ES20;K7PML8;P42771;Q8N726 AB060808;ABBA01065171;AF044170;AF115544;AF527803;AI859822;AJ844636;AL449423;AL582909;AMYH01019276;BC015960;BC021998;BI258230;BQ012762;BT007020;BX099567;CH471071;DQ318021;DQ325544;DQ406745;JQ694043;JQ694044;JQ694045;L27211;NG_007485;NM_000077;NM_001195132;NM_058195;NM_058197;S69804;S78535;U12818;U12819;U12820;U26727;U38945;X94154 AAA82236;AAA92554;AAB01737;AAB60645;AAC60649;AAD02319;AAD11437;AAD14048;AAH15960;AAH21998;AAM77919;AAP35666;AAR05391;ABC47036;ABC50001;ABD72255;AFN61598;AFN61599;AFN61600;BAB91133;CAA63870;CAH59950;EAW58598;EAW58599;EAW58600;EAW58601;EAW58602;EAW58603;NP_000068;NP_001182061;NP_478102;NP_478104;P42771;Q8N726 Hs.512599 1698908;1733690;1734302;1739743;1744171;1744211;1744213;1744851;1744855;1745615;1745621;1745623;1745625;1745627;1745873;1745875;1792298;1792300;1793676;1794622;1794624;1795048;1795050;1795052;1795144;2113146;2113204;2120982;2121132;2167157;5117122 D9S1748;D9S2060;D9S2137;D9S2143;D9S942;D9S974;GDB:434761;GDB:437702;GDB:437709;GDB:437717;GDB:572854;GDB:572861;GDB:626084;GDB:626104;GDB:626109;GDB:626123;GDB:626126;GDB:679537;GDB:679538;PMC140684P1;PMC140684P2;PMC25103P3;PMC33151P1;PMC33151P2;PMC92514P2;PMC92514P3;PMC92514P4;PMC99853P1;RH103023;RH67869;STS-S69824 ARF;CDK4I;CDKN2;CMM2;INK4;INK4a;MLM;MTS-1;MTS1;P14;P16;P16-INK4A;P19;TP16;p14ARF;p16INK4;p16INK4a;p19Arf CDK4 inhibitor p16-INK4;MTS-1;OTTHUMP00000021147;OTTHUMP00000215051;OTTHUMP00000215052;OTTHUMP00000215053;cell cycle negative regulator beta;cyclin dependent kinase inhibitor 2a;cyclin-dependent kinase 4 inhibitor A;cyclin-dependent kinase inhibitor 2A;cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4);cyclin-dependent kinase inhibitor 2A, isoform 4;cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3;cyclin-dependent kinase inhibitor p16;multiple tumor suppressor 1;p16-INK4;p16-INK4a APPROVED protein-coding ENSG00000147889 1787 02542 155601;155755;600160;606719 REVIEWED 1317172 CDKN3 cyclin-dependent kinase inhibitor 3 The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 14 14 q22 53933476 53956682 + 54863673 54886936 + 728374;1580863;6480464 7698009 8242750;15671017;12745075;8127873;10669749;17056014;16945326;15147518;12477932;11781350;11684017;11463386;10987270;9989807;8242751;7569954;20677014;19728335;21107309;9840943;21535270;21577200;21890473;22390936;15530371;23000965;23259602;21396835 1033 F5H232;F8WD24;G3V1K6;G3V2J7;H7C0S3;Q9C046 ABBA01018194;ABBA01018195;AF213033;AF213034;AF213035;AF213036;AF213037;AF213038;AF213039;AF213040;AF213041;AF213042;AF213043;AF213044;AF213045;AF213046;AF213047;AF213048;AF213049;AF213050;AF213051;AF213052;AF213053;AK098653;AK293265;AL049778;AL359792;AMYH01005742;AY194117;AY257474;AY257475;AY257476;AY257477;AY257478;BC064965;BC103633;BT019451;CH471061;CR407666;EF560750;L25876;L27711;NG_023235;NM_001130851;NM_005192;U02681 AAA60222;AAA66496;AAC04932;AAH64965;AAI03634;AAK06365;AAK06366;AAK06367;AAK06368;AAK06369;AAK06370;AAK06371;AAK06372;AAK06373;AAK06374;AAK06375;AAK06376;AAK06377;AAK06378;AAK06379;AAK06380;AAK06381;AAK06382;AAK06383;AAK06384;AAN86348;AAP13062;AAP13063;AAP13064;AAP13065;AAP13066;AAV38258;ABQ59060;BAH11478;CAG28594;EAW80632;EAW80633;EAW80634;NP_001124323;NP_005183;Q16667 Hs.84113 2115677;2125816;2165871 D14S1189;G35595;G36196 CDI1;CIP2;FLJ25787;KAP;KAP1;MGC70625 CDK2-associated dual specificity phosphatase;CDK2-associated dual-specificity phosphatase;Cdk-associated protein phosphatase;OTTHUMP00000178991;OTTHUMP00000244841;OTTHUMP00000244842;OTTHUMP00000244843;OTTHUMP00000244844;cyclin-dependent kinase inhibitor 3;cyclin-dependent kinase interacting protein 2;cyclin-dependent kinase interactor 1;cyclin-dependent kinase-interacting protein 2;kinase associated phosphatase;kinase-associated phosphatase APPROVED protein-coding ENSG00000100526 1791 00450 123832 REVIEWED 1350416 CDPD1 corneal dystrophy and perceptive deafness 1 93976 15704 1316888 CDNF cerebral dopamine neurotrophic factor 10 10 10 p13 14789300 14808023 - 14901257 14919989 - 14861251 14879983 - 6480464 19429035;19258449;17611540;15146197;12477932;11752456;11329013;21320571 441549 Q49AH0 ABBA01034606;AC069544;AK131035;AMYH01002054;AV657190;BC037872;BC133042;BC133044;BC144619;BG213461;BQ025443;CH471072;CN311321;NM_001029954 AAH37872;AAI33043;AAI33045;EAW86263;EAW86264;EAW86265;EAW86266;NP_001025125;Q49AH0 Hs.559067 1670052 SHGC-6717 ARMETL1 ARMET-like protein 1;OTTHUMP00000019165;arginine-rich, mutated in early stage tumors-like 1;cerebral dopamine neurotrophic factor;conserved dopamine neurotrophic factor protein-coding 24913 611233 VALIDATED 1348731 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 9 9 p21 21992902 21999312 - 22002902 22009312 - 1580863;2289697;2289695;2289684;2289696;2296066;2296065;2316081;6480464;6907045;1578522;7248760;7248756;7248757;7248758 11720438;17632454;16799475;15590562;12203782;16000597;18558284;16527513;20065947;23361049;16624482;10391689 8078588;19447967;17553787;17597576;16943770;19602701;19594747;19592620;19578367;19578366;19578363;19559344;19536092;19502414;19501493;19424593;19383911;19380854;19324937;19293724;19279076;19272367;19258477;19258437;19258404;19247372;19228808;19225753;19214202;19200577;19166692;19164764;19144660;19141585;19124506;19109226;19082521;19056724;19056611;19033397;19020324;19020323;19008344;19002430;18997786;18991055;18984664;18925945;18719881;18694974;18636124;18633108;18625718;18618095;18599554;18597214;18591388;19139842;18564286;18551412;22248274;18544707;18516622;18507837;18489844;18477659;18469204;18461161;18437351;18426861;18372903;18368387;18332116;18331779;18284544;18281541;18212765;18210030;18174243;18162508;18071362;17928989;17920725;17909067;17900658;17885492;17827400;17804762;17673925;17652530;17554300;17546638;17513607;17478681;17478679;17463249;17463248;17463246;17459456;17409409;17316622;17074388;17008550;16909113;16890288;16872319;16682076;16618910;16381901;16189514;16169070;15978938;15960923;15937071;15917995;15819981;15813917;15755508;15523694;15489336;15489334;15475071;15164053;15112341;15093610;14696398;14623092;14519636;12970781;12684640;12592382;12556369;12477932;12060387;12036898;12007796;11992549;11874489;11859969;11695244;11692873;11668523;11283613;11076863;10892805;10574984;9230210;9163429;9111314;9042862;8153634;8001816;7987828;7882351;7675459;7478582;15580267;22212460;22792221;21069533;10812241;15833197;18384396;19198609;19298278;19368689;19401414;19409979;19443857;19484265;19493449;19665068;19690970;19720844;19727727;19738611;19741166;19741467;19782398;19794065;19808892;19837270;19847924;19862325;19892838;19933996;20043145;20075150;20118908;20161779;20190193;20203524;20215779;20364137;20384434;20395613;20435627;20453000;20462933;20490451;20509872;20512145;20548946;19913121;20386740;20549515;20550665;20571754;20574843;20616309;20628086;20694560;20802253;20453838;20581827;20596618;20663777;20637757;20658957;20231302;20712903;20738937;20816152;20847058;20858905;20862607;20879858;20889853;20971364;21048031;22706276;22840486;21531791;21573907;20716961;21124069;21378990;20637465;21151960;20864173;20978019;21151178;23162013;23199516;19099629;21270820;19586936;21234743;21427129;21638516;21757289;22643932;22086844;21414664;21262917;17803708;22134481;20561406;21889114;21900206;21920947;22560925;22096510;22581228;21971053;22144573;22178423;22199011;22293688;22419738;21988832;23315372;23091611;23418593;22961080;23104006;22772967;23455922;23561647;23718855;23275143;21832049;22761751;22619049 1030 AAB32712;K7PPU3;P42772 ABBA01065171;AF004819;AF058758;AF488409;AF488410;AF488731;AF513858;AJ844637;AL449423;AMYH01019276;BC014469;BC018984;BI560960;CH471071;CR536529;JQ694046;JQ694047;JQ694048;JX391994;L36844;NG_023297;NM_004936;NM_078487;S69805;S75756;U17075 AAA50282;AAB32712;AAB69989;AAC50075;AAD14049;AAD14186;AAF28397;AAH14469;AAM44859;AAO49471;AFN61601;AFN61602;AFN61603;AGC10270;CAG38766;CAH59951;CAL37519;CAL37840;CAL38142;CAL38269;EAW58596;EAW58597;NP_004927;NP_511042;P42772 Hs.72901 1733768;1738455;1739835;1745623;1745869;1745871;1791382;2139960 D9S1605;D9S1752;D9S958;GDB:626109;GDB:679533;GDB:679534;PMC108944P1;STS-N34320 CDK4I;INK4B;MTS2;P15;TP15;p15INK4b CDK inhibitory protein;CDK4B inhibitor;MTS-2;OTTHUMP00000021154;OTTHUMP00000021155;cyclin-dependent kinase 4 inhibitor B;cyclin-dependent kinases 4 and 6 binding protein;multiple tumor suppressor 2;p14-INK4b;p14_CDK inhibitor;p14_INK4B;p15 CDK inhibitor;p15-INK4b;p15_INK4B APPROVED protein-coding ENSG00000147883 1788 02696 600431 REVIEWED 1346352 CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] 19 19 p13 10538138 10540655 - 10677138 10679655 - 1580863;6480464;6907045 8741839;15750620;10208428;16322758;19141585;19124506;19063602;18950845;18507837;18281541;18276842;18174243;17804013;17409409;16189514;15489334;15107822;12698196;12665801;12477932;12203782;12062451;11786024;11301189;10962575;10734227;10557343;10390011;9782052;9751051;9751050;9001419;8575754;7739548;7739547;21901251;19258477;19430707;19738611;17334399;21832049;21765927;21139048;22558186;22476863;22747700 1032 P55273 ABBA01029913;AC011475;AF044171;AF061327;AF518878;AMYH01009477;BC001822;BG719545;BI462387;BI669755;CH471106;CR542158;NM_001800;NM_079421;U20498;U40343;U49399 AAA85436;AAB03772;AAB18139;AAC27450;AAD02320;AAH01822;AAM54045;ABM83798;ABM83877;ABM87119;CAG46955;EAW84122;EAW84123;NP_001791;NP_524145;P55273 Hs.435051 1793886;1797386;2137581;2148559;2152414 CDKN2D_1963;PMC303366P8;RH18055;RH66593;SHGC-35402 INK4D;p19;p19-INK4D CDK inhibitor p19INK4d;cell cycle inhibitor, Nur77 associating protein;cyclin-dependent kinase 4 inhibitor D;cyclin-dependent kinase 4 inhibitor D p19;inhibitor of cyclin-dependent kinase 4d APPROVED protein-coding ENSG00000129355 1790 02957 600927 REVIEWED 1604405 CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008] 1 1 p32 51206955 51212897 + 51434367 51440309 + 6480464;6907045 8001816;17353931;10208428;11800646;19401813;19258477;19141585;19124506;18973139;18942719;18829482;18642058;18507837;18394558;18316595;18281541;18174243;17710155;17409409;16802342;16260494;16169070;15489334;15107819;14702039;14645011;12698196;12477932;12203782;12077144;11668523;10737800;10074345;9973200;9636670;9537438;9437433;8840966;8663131;8647873;8397372;8259215;11124804;9482104;19411068;19509251;19738611;20507346;21076409;20819778;21048031;20833334;21112821;15680327;22080569;21906983;21994415;17803708;11900540;22685290;22896639 1031 P42773;Q6ICV4 ABBA01074817;AF041248;AF041249;AF041250;AF058759;AK021794;AK091170;AL359977;AL590455;AMYH01000610;AY094608;BC000598;BC005041;BC016173;BC017036;BE783451;BE831176;CH471059;CR450289;HI558639;NM_001262;NM_078626;U17074 AAC39782;AAC39783;AAC50074;AAF28398;AAH00598;AAH05041;AAH16173;AAM11873;ABM82442;ABM85633;BAG52297;CAG29285;CBX47327;EAX06833;EAX06834;EAX06835;EAX06836;NP_001253;NP_523240;P42773 Hs.525324 1677536;1795242;5104902 CDKN2C_15;D5Lev19;RH93751 INK4C;p18;p18-INK4C CDK6 inhibitor p18;OTTHUMP00000009730;OTTHUMP00000009731;cyclin-dependent inhibitor;cyclin-dependent kinase 4 inhibitor C;cyclin-dependent kinase 6 inhibitor p18;p18-INK6 APPROVED protein-coding ENSG00000123080 1789 04534 603369 REVIEWED 737394 CDO1 cysteine dioxygenase type 1 5 5 q23.2 115168329 115180304 - 115140430 115152405 - 1300048;1580863;2301363;2301355;6480464;6907045;7242427 6726227;16627576;20162368 12110289;12871209;18033314;17327371;15489334;15302935;12477932;11101006;9497919;8835096;7524679;17353931;17207965;20515469;19199799;22011669;21139048;21988832;23028699 1036 Q16857;Q16878 ABBA01069029;AC026449;AK130357;AK314231;AL534761;AMYH01015563;BC024241;BX336206;CH471086;CR536540;D85777;D85782;NM_001801;U60232;U80055;Z23010;Z31357 AAB58352;AAH24241;ABM82578;ADQ32846;BAA12872;BAA12873;BAG36901;CAA80552;CAA83234;CAG38777;EAW48957;NP_001792;Q16878 Hs.442378 2136627;2178386 SGC31607;STS-Z31357 CDO;CDO-I;OTTHUMP00000159131;cysteine dioxygenase type 1 APPROVED protein-coding ENSG00000129596 1795 06806 603943 VALIDATED 1351000 CDRT10 CMT1A duplicated region transcript 10 94153 14390 1354486 CDRT11 CMT1A duplicated region transcript 11 94154 14391 1349271 CDRT12 CMT1A duplicated region transcript 12 94155 14392 1352764 CDRT13 CMT1A duplicated region transcript 13 94156 14393 1345886 CDON cell adhesion associated, oncogene regulated This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011] 11 11 11 q24.2 122988054 123098575 - 125331923 125438397 - 125826713 125933187 - 1299440;5510025;6480464;6484113;7240533 9214393;20844013;20626350 11782431;15489334;14702039;12720294;12634428;12620190;12477932;22326621;20379614;15923648;20519495;21802063;21849809;22747683;22881374 50937 E9PN78;E9PNF2;E9PPQ7;E9PRD8;H0YCZ4;H0YEX4;Q4KMG0 AB209396;ABBA01031229;ABBA01031230;ABBA01031231;ABBA01031232;ABBA01031233;AF004841;AI190027;AK022986;AK309694;AMYH01004110;AP000821;AP000842;BC098583;BC112362;BC114435;CH471065;NG_029776;NM_001243597;NM_016952 AAC34901;AAH98583;AAI14436;BAD92633;EAW67672;NP_001230526;NP_058648;Q4KMG0 Hs.38034 1336765;1341356;1665251;1700770;1709420;1723239;1738167;1851644;2109123;2118270;2145471;2147763;5022200;5022578;5022588;5118444 CDON_9654;D11S3316;D11S3799;D11S4679;D11S975;D11S990;D1S1423;D5S1597E;L18426;RH104010;RH122306;RH16258;SHGC-34411;SHGC-57796;SHGC-81744;STS-H62229 CDO;CDON1;HPE11;MGC111524;ORCAM Cdon homolog;OTTHUMP00000231331;OTTHUMP00000231332;cell adhesion molecule-related/down-regulated by oncogenes;surface glycoprotein, Ig superfamily member 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000064309 17104 16372 608707;614226 REVIEWED 1347087 CDRT14 CMT1A duplicated region transcript 14 94157 14394 2298814 CDRT15L2 CMT1A duplicated region transcript 15-like 2 17 17 p11.2 20422589 20424816 + 20483037 20484224 + 16625196 256223 A8MXV6 AA446206;ABBA01050442;AC015818;AC087499;AI016778;AMYH01008258;NM_001190790 A8MXV6;NP_001177719 Hs.131916 CMT1A duplicated region transcript 15 protein-like protein;CMT1A duplicated region transcript 15-like 2;OTTHUMP00000065864 protein-coding ENSG00000214819 34075 VALIDATED 1604737 CDPF1 cysteine-rich, DPF motif domain containing 1 22 22 22 q13.31 30547295 30553578 - 45018574 45024857 - 46639910 46646193 - 6480464 15461802;12477932;21832049 150383 F6RAJ7;F6UL18;H9KV78;Q6NVV7 ABBA01010443;AK127072;AL078611;AMYH01012857;AW085176;BC036462;BC045796;BC067871;BX648331;CH471138;CR456415;NM_207327 AAH45796;AAH67871;CAG30301;EAW73406;EAW73407;EAW73408;EAW73409;NP_997210;Q6NVV7 Hs.103110;Hs.592209 1671225;1687814;1853966;1853968;2111964 A005R09;Cda02e06;D22S1586;G20431;SHGC-32144 C22orf40 OTTHUMP00000028822;OTTHUMP00000197571;UPF0595 protein C22orf40;cysteine-rich DPF motif domain-containing protein 1;hypothetical protein LOC150383 APPROVED protein-coding 33710 11241 VALIDATED 1345930 CDR1 cerebellar degeneration-related protein 1, 34kDa Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010] X X X q27.1 140239120 140240418 - 139693091 139694389 - 139865425 139866723 - 6480464 12477932;11846061;3474619;2326268;1708201;20515567;21964070 1038 P51861 ABBA01023121;AL078639;AMYH01023065;BC113472;BC113474;H98878;M16965;M31423;N79390;NG_016361;NM_004065 AAA51962;AAA52472;AAI13473;AAI13475;NP_004056;P51861 Hs.446675 1660612;2139549;5019213;5120898;5493597;5494001 CDR1;SHGC-32493;STS-M16965;UniSTS:480705;UniSTS:488077;WI-18961 CDR;CDR34;CDR62A OTTHUMP00000024168;cerebellar degeneration-related antigen 1 APPROVED protein-coding ENSG00000184258 1798 02361 302650 REVIEWED 1354393 CDRT2 CMT1A duplicated region transcript 2 94144 14381 2301271 CDRT15P2 CMT1A duplicated region transcript 15 pseudogene 2 17 17 p12 15607682 15609910 + 15668017 15669003 + 16625196;15197164 644694 ABBA01035676;AC005324;AC015922;AMYH01008144;CF272591;NR_033865 A8MXV6 Hs.513966 CDRT15L1 APPROVED pseudo 34074 VALIDATED 1345039 CDRT3 CMT1A duplicated region transcript 3 94145 14382 1343934 CDRT5 CMT1A duplicated region transcript 5 94148 14384 1346673 CDRT6 CMT1A duplicated region transcript 6 p12 11381029 94149 AL037161 DKFZp564P0164 protein-coding 14385 1349224 CDRT7 CMT1A duplicated region transcript 7 (non-protein coding) 17 17 p12 14958926 14959908 + 14934292 14935274 + 11381029 94150 ABBA01055037;AC005772;AI218510;AMYH01008128;BX093265;NR_033371 Hs.147654 LINC00025;NCRNA00025 miscrna ENSG00000259944 14386 PREDICTED 1353579 CDRT8 CMT1A duplicated region transcript 8 p12 11381029 94151 AA432141;CR737651;NR_103559 Hs.738881;Hs.98684 1676406 RH98604 miscrna 14387 VALIDATED 1602123 CDR2L cerebellar degeneration-related protein 2-like 17 17 17 q25.1 69576957 69595142 + 70495322 70513490 + 72983727 73001895 + 6480464 12477932;19322201 30850 Q86X02 ABBA01028821;AC087651;AK294006;AMYH01008629;AW239343;BC013105;BC047534;CH471099;L02867;NM_014603 AAA91850;AAH47534;ABZ92326;BAG57368;EAW89223;EAW89224;EAW89225;EAW89226;NP_055418;Q86X02 Hs.78358 1850344 A004N21 HUMPPA OTTHUMP00000197354;cerebellar degeneration-related protein 2-like;paraneoplastic 62 kDa antigen;paraneoplastic antigen protein-coding ENSG00000109089 29999 11041 VALIDATED 1344073 CDRT9 CMT1A duplicated region transcript 9 p12 11381029 94152 AI220152 protein-coding 14389 1321565 CDR2 cerebellar degeneration-related protein 2, 62kDa 16 16 p12.3 22264758 22293439 - 22357257 22385938 - 1580863;6480464 19680650;11988016;16054780;15489334;15081253;12477932;10465786;9809559;9637778;9344654;8889548;2260856;2014264;1763903;1505970;19581925;20379614;21080165;21988832;23531419;20383333;22351748 1039 H3BN65;H3BQS4;H3BTR1;H3BU23;H3BUE0;Q01850 ABBA01003840;AC092338;AK292273;AMYH01007348;BC017503;BG386156;BG750955;BM714067;CB990819;CH471249;D12981;M63256;NM_001802 AAA51961;AAH17503;ABM83129;ABM83130;ABM86325;BAA02360;BAF84962;EAW50609;EAW50610;NP_001793;Q01850 Hs.513430 1663844;2114936;2122999 SHGC-12405;SHGC-30064;SHGC-61181 CDR62;Yo Yo paraneoplastic antigen;cerebellar degeneration-related protein 2;major Yo paraneoplastic antigen;paraneoplastic cerebellar degeneration-associated antigen protein-coding ENSG00000140743 1799 06681 117340 VALIDATED 1602662 CDRT15P1 CMT1A duplicated region transcript 15 pseudogene 1 17 17 p12 13868540 13869640 + 13927815 13928915 + 12477932;11381029 94158 AA453375;ABBA01055030;AC005304;AMYH01008123;BX118788;NR_003261 Hs.633073;Hs.709554 1683018 RH92428 CDRT15P APPROVED pseudo 33168 PROVISIONAL 1603575 CDRT15 CMT1A duplicated region transcript 15 17 17 17 p12 13953669 13954646 + 14079898 14080875 - 14139173 14140150 - 12477932;11381029 146822 F2Z3C1;Q96T59 ABBA01055033;AC005224;AF355097;AMYH01008125;BC071823;BC146859;CH471108;NM_001007530 AAI46860;AAK39098;EAW89958;NP_001007531;Q96T59 Hs.735172 1683018 RH92428 CMT1A duplicated region transcript 15 protein;OTTHUMP00000064700;OTTHUMP00000161019 protein-coding 14395 16700 PROVISIONAL 1350394 CDRT1 CMT1A duplicated region transcript 1 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 p12 14120922 14121515 - 15432702 15463743 - 15491977 15523018 - 6480464 7586531;15520277;14702039;11381029;9787083;9403059;8889548;12477932 374286 I3L073;J3KTF7;J3QLS4;K7ER72;O95170;Q59EB2 ABBA01006379;ABBA01016164;ABBA01035683;ABBA01035684;AC005324;AC005838;AF045592;AF337810;AK057407;AMYH01008131;AMYH01008132;AMYH01008133;AMYH01008134;BC143291;BC171723;BU738380;NM_006382;U43383;U65652 AAC52034;AAC69998;AAD10830;AAI72310;AAK15344;NP_006373;O95170 Hs.548021;Hs.632233 1712346;1720127;2115892 D17S725;G54161;RH123806 C170RF1;C17ORF1;C17ORF1A;DKFZp434O1826;FBXW10B;FBXW10P1;HREP;SM25H2 CMT1A duplicated region transcript 1 protein;Charcot-Marie-Tooth duplicated region transcript 1;F-box and WD repeat domain containing 10 pseudogene 1;F-box and WD-40 domain protein 10 pseudogene 1;OTTHUMP00000166036 APPROVED protein-coding ENSG00000241322 14379 16699 604596 PROVISIONAL 5135108 CDV3P1 CDV3 homolog (mouse) pseudogene 1 3 3 q11.2 97978469 97979293 + 96495779 96496531 + 100129736 ABBA01026945;AC109782;AMYH01013348;NG_022257 pseudo 42387 INFERRED 1351857 CDRT4 CMT1A duplicated region transcript 4 17 17 17 p12 15363875 15395464 - 15280063 15311650 - 15339332 15370925 - 6480464 17903307;14702039;12477932;11381029;16344560;8889548 284040 D3DTT2;G3V5I9;Q8N9R6 ABBA01055043;AC005517;AK093993;AK126240;AK172733;AMYH01008130;BC029542;BM971397;BX379636;CH471108;DB105410;NM_001204477 AAH29542;BAC04263;EAW89938;EAW89941;NP_001191406;Q8N9R6 Hs.731765 1336046;1763275;5022200;5022651 D11S2921;D17S261;L18426;SHGC-147004 FLJ36674;MGC33988;NBLA10383 CMT1A duplicated region transcript 4 protein;putative protein product of Nbla10383 protein-coding ENSG00000239704 14383 08208 VALIDATED 1353195 CDSN corneodesmosin This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p21.3 31190849 31196202 - 31082865 31088252 - 1599783;1580863;6480464;7240710 12754508 15086562;11739386;9395522;8415725;18369457;16965413;16642438;16344560;16297191;15953084;15654960;15466487;15333584;12653732;12477932;12472658;12366786;11279026;11169256;10599883;9712893;7818278;4141628;15140227;16713569;19851445;20041166;20448140;20691404;21191406;21134591;21182673;21221983;21628128;21800051;21139048;22033905;22875505;23263863;23537643 1041 G8JLG2;Q2L6G8;Q9UIN7 AB088114;ABBA01038068;AF030130;AF224747;AF224748;AF224749;AF224750;AF224751;AF224752;AF224753;AF224754;AF224755;AF224756;AF224757;AF224758;AF286165;AF491326;AF491328;AF491330;AI768204;AJ238461;AJ238462;AJ238463;AJ238464;AJ238465;AJ238466;AJ238467;AK292636;AL662844;AL662867;AL773544;AMYH01016209;AU134804;AY328474;AY328475;BC031993;BX927139;CH471081;CR753819;CR759805;L20815;NG_012192;NG_021348;NM_001264 AAA21321;AAC24196;AAF78559;AAF78560;AAF78561;AAF78562;AAF78563;AAF78564;AAF78565;AAF78566;AAF78567;AAF78568;AAF78569;AAF78570;AAG02419;AAH31993;AAN70994;AAN70995;AAN70996;AAP94640;AAP94641;ABM82509;ABM85703;BAC54948;BAF85325;CAB57266;CAB57267;CAB57268;CAB57269;CAB57270;CAB57271;CAB57272;EAX03358;NP_001255;Q15517 Hs.310958;Hs.556031 1338964;2120024;2169589;5125915;7184417;7185440;7188001 D6S1607;D6S1701;D6S1727;D6S276;RH15771;RH17634 D6S586E;HTSS;HTSS1;PSS;S OTTHUMP00000029207;corneodesmosin;differentiated keratinocyte S protein APPROVED protein-coding ENSG00000204539 1802 03998 146520;270300;602593 REVIEWED 734044 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] 4 4 4 q21.23 82794273 82862979 + 85723081 85789379 + 85504057 85572493 + 734756;734754;734755;1580863;6480464;6907045;7240710 12533788;11746983;12610780 9115637;8863531;9806839;16461635;16344560;15489334;12477932;9889000;9407135;8889548;19913121;20628086;10681541;21906983 1040 D6RGC8;Q92903 ABBA01063481;ABBA01063482;ABBA01063483;AC104082;AI673547;AK026697;AK314245;AMYH01014365;AU139278;BC074833;BC074881;BE504303;CA313675;CH471057;DN915398;NM_001263;U60808;U65887 AAC50735;AAC51184;AAH74833;AAH74881;BAG36912;EAX05950;EAX05951;NP_001254;Q92903 Hs.654899;Hs.708641 1646766;1671701;2115109;2159895;2168488;5091355 G16738;SHGC-50798;SHGC-59679;SHGC-59792;SHGC-67258;WI-11924 CDS CDP-DAG synthase 1;CDP-DG synthase 1;CDP-DG synthetase 1;CDP-diacylglycerol synthase 1;CDP-diglyceride pyrophosphorylase 1;CDP-diglyceride synthase 1;CDP-diglyceride synthetase 1;CDS 1;CTP:phosphatidate cytidylyltransferase 1;OTTHUMP00000160984;phosphatidate cytidylyltransferase 1 APPROVED protein-coding ENSG00000163624 1800 11944 114480;176807;259500;603548;609265 REVIEWED 731362 CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 5177503 5242010 + 5055482 5119989 + 5107407 5178533 + 1580863;6480464;6907045 9806839;17081983;15489334;14702039;12477932;12457874;11780052;9889000;9407135;20379614;19913121;20628086;15342556;21890473;21906983 8760 E7EQ83;F6VWC5;Q9NTT2 ABBA01053874;ABBA01053875;AF069532;AK001414;AK022998;AK027695;AK091045;AK095430;AK123831;AK130193;AK303426;AK304763;AK315489;AL121755;AL121924;AMYH01011691;BC015432;BC025346;BC025751;BC044234;BP353230;CH471133;NM_003818;Y16521 AAC78305;AAH25751;ABM82569;ABM85758;BAG37873;BAG50907;BAG51366;BAG64477;BAG65518;CAA76270;EAX10424;EAX10425;EAX10426;NP_003809;O95674 Hs.126857 1679922;1777314;2107919;2141111 CDS2_8852;RH18488;RH28677;Z94657 FLJ12936;FLJ38111;FLJ41837 CDP-DAG synthase 2;CDP-DG synthase 2;CDP-DG synthetase 2;CDP-diacylglycerol synthase 2;CDP-diglyceride diphosphorylase 2;CDP-diglyceride pyrophosphorylase 2;CDP-diglyceride synthase 2;CDP-diglyceride synthetase 2;CDS 2;CTP:phosphatidate cytidylyltransferase 2;OTTHUMP00000030194;OTTHUMP00000030195;phosphatidate cytidylyltransferase 2 APPROVED protein-coding ENSG00000101290 1801 09150 603549 REVIEWED 1604526 CDY10P chromodomain protein, Y-linked 10 pseudogene Y Y q11.223 22207875 22210742 - 23798487 23801354 - 12815422;9847074 140043 AC021107;NG_004832 pseudo 23848 VALIDATED 1604155 CDY11P chromodomain protein, Y-linked 11 pseudogene Y Y q11.223 22267419 22270447 + 23858031 23861059 + 12815422;9847074 378014 AC021107;NG_004832 1667237 DYF77S1 pseudo 23852 VALIDATED 1605210 CDY12P chromodomain protein, Y-linked 12 pseudogene Y Y q11.223 22620132 22621340 + 24210744 24211952 + 12815422;9847074 386734 AC007359;NG_004755 pseudo 23856 VALIDATED 1605209 CDY13P chromodomain protein, Y-linked 13 pseudogene Y Y q11.223 23076123 23077331 - 24666735 24667943 - 12815422;9847074 386735 AC008175;NG_004755 pseudo 23857 VALIDATED 1605208 CDY14P chromodomain protein, Y-linked 14 pseudogene Y Y q11.223 24229813 24231020 + 25820425 25821632 + 12815422;9847074 386736 AC016752;NG_004755 pseudo 23858 VALIDATED 1605207 CDY15P chromodomain protein, Y-linked 15 pseudogene Y Y q11.223 24409806 24413047 - 26000418 26003659 - 12815422 386737 AC073649;NG_004755 pseudo 23859 VALIDATED 1605206 CDY16P chromodomain protein, Y-linked 16 pseudogene Y Y q11.223 24417005 24418335 + 26007617 26008947 - 12815422 386738 AC073649;NG_004755 pseudo 23860 VALIDATED 1605205 CDY17P chromodomain protein, Y-linked 17 pseudogene Y Y q11.223 24605312 24607448 - 26195924 26198060 - 12815422;9847074 386739 ABBA01030396;AC068601;NG_004755 pseudo 23861 VALIDATED 1602107 CDV3 CDV3 homolog (mouse) 3 3 3 q22.1 131719262 131736216 + 134775264 134791795 + 133292434 133309118 + 6480464 10497265;16094384;15144186;14702039;12477932;12359334;15580267;19322201;15146197;15342556;16341674;8889548;22939629;22863883;23568457;18029348;21906983 55573 D6R973;D6R9V8;D6RAV0;D6RDN0;D6RFH2;H0Y8K3;Q9UKY7 ABBA01059166;AC016255;AF103803;AK025647;AK026272;AK096865;AMYH01013510;BC007338;BC034727;BM676291;BM798790;BP336445;CB268158;CH471052;CN342000;CR991255;NM_001134422;NM_001134423;NM_017548 AAF02423;AAH07338;BAG53384;EAW79176;EAW79177;NP_001127894;NP_001127895;NP_060018;Q9UKY7 Hs.518265 1735112;1739803;1772835;2135372 D3S2787E;D3S3480E;RH47115;STS-H62875 H41 OTTHUMP00000216402;OTTHUMP00000216403;OTTHUMP00000216404;OTTHUMP00000216405;OTTHUMP00000216406;OTTHUMP00000216408;OTTHUMP00000216409;carnitine deficiency-associated gene expressed in ventricle 3;protein CDV3 homolog protein-coding ENSG00000091527 26928 13627 VALIDATED 1605204 CDY18P chromodomain protein, Y-linked 18 pseudogene Y Y q11.223 24659321 24662768 + 26249933 26253380 + 12815422 386740 AC023274;NG_004755 5021780;5022979;5116088;5116128;5116130;5116148;5116152 sY1938;sY1962;sY1963;sY1964;sY1965;sY1977;sY1980 pseudo 23862 VALIDATED 1321203 CDX1 caudal type homeobox 1 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008] 5 5 q32 149526537 149544314 + 149546344 149564121 + 1580863;6480464 8530027;19188603;19059241;18953412;18231635;18187048;15894614;15774940;15489334;15215241;15143193;14715525;14704280;12970739;12477932;12124393;11846061;9036867;8563749;19468668;19781065;22016432;23112162;23618814;21532856;21518475;23127929;23185413;23329892;22749770 1044 P47902;Q14DX0 ABBA01026284;AC005895;AF239666;AMYH01015706;BC096249;BC096250;BC096251;BC096252;BC127122;CH471062;NM_001804;U15212;U16360;U51095 AAA80284;AAB40602;AAC50237;AAF61234;AAH96249;AAH96250;AAH96251;AAH96252;AAI27123;EAW61745;NP_001795;P47902 Hs.1545 1797388;2163278 CDX1_2315;RH70663 MGC116915 OTTHUMP00000160524;OTTHUMP00000223968;caudal type homeo box transcription factor 1;caudal type homeobox transcription factor 1;caudal-type homeobox protein 1;caudal-type homeobox protein CDX1;homeobox protein CDX-1 APPROVED protein-coding ENSG00000113722 1805 02849 600746 REVIEWED 1605202 CDY20P chromodomain protein, Y-linked 20 pseudogene Y Y Y q11.223 10362125 10363812 - 26173753 26175889 + 27764365 27766501 + 12815422;9847074 386742 AC007562;NG_004755 pseudo 23864 VALIDATED 1605201 CDY21P chromodomain protein, Y-linked 21 pseudogene Y Y q11.223 26362839 26364169 + 27953451 27954781 + 12815422;9847074 386743 AC017005;NG_004755 pseudo 23865 VALIDATED 1351181 CDX4 caudal type homeobox 4 This gene encodes a member of a small subfamily of homeobox containing transcription factors. The encoded protein may regulate homeobox gene expression during anteroposterior patterning and hematopoiesis. [provided by RefSeq, Aug 2012] X X X q13.2 72950582 72957913 + 72583815 72591146 + 72667090 72674421 + 1580863;6480464 15772651;15684390;14505364;12477932;9321471;7655457;21471217;21518475;15831705;17068127;17881901;18274620;18371423;19371634;19796250;22721648;23038246 1046 O14627 ABBA01059677;ABBA01059678;AF003530;AF029877;AF029878;AF029879;AL450108;AMYH01022611;BC128233;CH471104;NM_005193 AAB66319;AAD01894;AAI28234;EAW98667;NP_005184;O14627 Hs.553488 OTTHUMP00000023566;caudal type homeo box transcription factor 4;caudal type homeobox transcription factor 4;caudal-type homeobox protein 4;homeobox protein CDX-4 APPROVED protein-coding 1808 02065 300025 REVIEWED 1605203 CDY19P chromodomain protein, Y-linked 19 pseudogene Y Y q11.223 26118442 26121889 - 27709054 27712501 - 12815422;9847074 386741 AC007562;NG_004755 pseudo 23863 VALIDATED 1605200 CDY22P chromodomain protein, Y-linked 22 pseudogene Y Y q11.223 26368127 26371368 + 27958739 27961980 + 12815422;9847074 386744 AC017005;NG_004755 pseudo 23866 VALIDATED 1604278 CDT1 chromatin licensing and DNA replication factor 1 The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011] 16 16 q24.3 87397687 87403167 + 88870186 88875666 + 6480464;7240710 11125146;15232106;14672932;10436018;11095689;11931757;12045100;18657502;18650381;18617514;18508524;18288374;18184650;18162579;18006835;17598984;17085480;17029205;16949367;16940174;16861906;16835273;16407252;16407242;16273206;16261166;15855168;15489334;15302935;15284237;15257290;15004027;14993212;12840033;12477932;12429841;12192004;11896191;11555648;10898791;10766248;9110174;8619474;15448697;15260975;19054765;18832067;22560525;22333897;17261582;21099365;16482215;17318181;18029348;19276081;19906994;21224399;20308539;20139978;15138268;16362051;20929861;20980834;21358631;21358632;21115485;21628527;23029527;22939629;21729526;21846465;21937426;21856198;21930785;21981919;14578910;17079684;21139048;21890473;21906983;21963094;22140117;22451935;22581055;23152514;20609246;22505724 81620 H3BSY1;Q9H211 AB053172;ABBA01013586;AC092384;AF070552;AF321125;AMYH01007913;AMYH01007914;BC000137;BC008676;BC008860;BC009410;BC014202;BC021126;BC049205;CH471184;NG_028266;NM_030928 AAG45181;AAH00137;AAH08676;AAH08860;AAH09410;AAH14202;AAH21126;AAH49205;BAB61878;EAW66762;EAW66763;EAW66764;NP_112190;Q9H211 Hs.122908 5014051;5037552 D8S2278;D8S2279 DUP;RIS2 DNA replication factor Cdt1;Double parked, Drosophila, homolog of;double parked homolog APPROVED protein-coding ENSG00000167513 24576 06900 605525;613804 REVIEWED 1605199 CDY23P chromodomain protein, Y-linked 23 pseudogene Y Y q11.23 26550126 26551333 - 28140738 28141945 - 12815422;9847074 386745 AC007965;NG_004755 pseudo 23867 VALIDATED 3051403 CDY24P chromodomain protein, Y-linked 24 pseudogene Y Y q11.221 18533870 18543004 + 20024476 20033610 - 12815422;9847074 387360 AC009976;NG_004636 5021774;5022973;5022975;5116084;5116086;5116092;5116094;5116110;5116112;5116126;5116142;5116164;5116174 sY1934;sY1935;sY1936;sY1937;sY1940;sY1941;sY1942;sY1953;sY1954;sY1961;sY1973;sY1988;sY1994 pseudo 38080 REVIEWED 1346553 CDY3P chromodomain protein, Y-linked 3 pseudogene Y Y Y p11.2 237309 240108 + 9062732 9065736 - 9002837 9005636 - 12815422;9847074 286556 ABBA01031651;AC009952;NG_003131 1667237 DYF77S1 pseudo 23849 INFERRED 1348124 CDY4P chromodomain protein, Y-linked 4 pseudogene Y Y Y q11.2 1906458 1909375 - 13422477 13425406 - 14913274 14916191 - 12815422 386729 ABBA01065607;AC002531;NG_003138;NG_008311 pseudo 23872 VALIDATED 1604160 CDY5P chromodomain protein, Y-linked 5 pseudogene Y Y q11.222 18342471 18344469 + 19833077 19835075 + 12815422;9847074 378008 AC007742;NG_004636 5116232 sY2832 pseudo 23850 VALIDATED 1605213 CDY6P chromodomain protein, Y-linked 6 pseudogene Y Y q11.221 18503272 18505408 - 19993878 19996014 - 12815422;9847074 386730 AC009976;NG_004636 pseudo 23853 VALIDATED 1347031 CDY1 chromodomain protein, Y-linked, 1 This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Y Y q11.23 26177652 26180437 + 27768264 27771049 + 1580863 11263480;18807255;18326516;14569460;12837688;12815422;12477932;12149400;12072557;11163833;10956550;10655032;10192397;9806824;9381176;21474125;20663794;20039973;20301513 9085 Q9Y6F8 AC007562;AF000981;AF080597;AK292375;BC033041;BC132955;NG_004755;NG_011754;NM_004680;NM_170723 AAC52116;AAD22732;AAI32956;BAF85064;NP_004671;NP_733841;Q9Y6F8 Hs.159281 2188867;5104946;5106039;5106041;5107373;5112343;5115904;5121198 G34975;G65845;G65870;RH103714;sY1260;sY1262;sY1263;sY639 CDY;CDY1A;CDY1B;FLJ77185 OTTHUMP00000042673;OTTHUMP00000042674;chromodomain protein, Y chromosome, 1;testis-specific chromodomain protein Y 1;testis-specific chromodomain protein on Y APPROVED protein-coding ENSG00000172288 1809 02457 400016 REVIEWED 730914 CDX2 caudal type homeobox 2 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012] 13 13 q12.3 27434278 27441317 - 28536205 28543505 - 734757;1580863;6480464 9052785 9459001;19421714;19414376;19383647;19371634;19218548;19212618;19158837;19106744;19098678;19047909;18992917;18854960;18843504;18754095;18753946;18752499;18703641;18587323;18581275;18500171;18495206;18353622;18254783;18251778;18187048;18184409;18156982;18038313;17957487;17906616;17876541;17855634;17852856;17614034;17599044;17549351;17534889;17468517;17297462;16996572;16963449;16831200;16794828;16788384;16618413;16509871;16480684;16361536;16331267;16291394;16144916;16027724;15994917;15894926;15782100;15774940;15722794;15645288;15619975;15547744;15517368;15489334;15466189;15362373;15327990;15240568;15217781;15215241;15205684;15190067;15167938;15048136;14615935;14576477;14557879;14525978;22078291;22268990;13679455;12970742;12968672;12947088;12559945;12518221;12477932;12270138;12117877;11871772;11846061;11733373;11729123;11161380;10677375;10506141;9933478;9247466;9036867;8635654;7935448;7698771;22671145;22326557;22364879;22563170;20619754;20602288;20699370;18250063;19117933;19251954;19266212;19415720;19449081;19460469;19468668;19578052;19584150;19617623;19686845;19724852;19761587;19762530;19781065;19782160;19795349;19817898;19820687;20043087;20044613;20075618;20133952;20198783;20298183;20298184;20518411;20127720;20551175;21224344;21074721;19336002;20671195;20367284;20351696;20514449;20696899;20444732;20658368;21364588;21284881;21572312;21221798;22810971;22791809;23568430;23574843;22407102;21221877;21909647;21362237;22580340;22719836;21225631;22895825;23112155;21532856;21739268;21518475;21903586;22016432;23127929;23181722;23439753;22547830;23393221;21816365;22892849;22261707;22202456;22076569;22502678;22523209;22449796;22895272;23317240;22495359;15677472;23011828;23133598;23202735;22783055;22824143;22438068;23105122;18051367 1045 H0YJ33;Q99626 ABBA01035736;AF007886;AJ278431;AL591024;AMYH01004992;BC014461;BI085425;CH471075;NM_001265;U51096;Y13709 AAB40603;AAD05200;AAH14461;ABM84552;ABW03475;CAA74038;CAB94779;EAX08422;NP_001256;Q99626 Hs.174249;Hs.740844 1773199;2158781 RH48331;STS-U51096 CDX-3;CDX3 OTTHUMP00000018176;caudal type homeo box transcription factor 2;caudal type homeobox transcription factor 2;caudal-type homeobox protein 2;homeobox protein CDX-2 APPROVED protein-coding 1806 02622 600297 REVIEWED 1605211 CDY8P chromodomain protein, Y-linked 8 pseudogene Y Y q11.221 18643147 18645283 + 20133753 20135889 + 12815422;9847074 386732 AC009976;NG_004636;NG_032921 pseudo 23855 VALIDATED 1604157 CDY9P chromodomain protein, Y-linked 9 pseudogene Y Y q11.222 18804091 18806089 - 20344703 20346701 - 12815422;9847074 378011 AC024183;NG_004636 5116232 sY2832 pseudo 23851 VALIDATED 1605212 CDY7P chromodomain protein, Y-linked 7 pseudogene Y Y q11.221 18572542 18574838 + 20063148 20065444 + 12815422;9847074 386731 AC009976;NG_004636 1790155;5116096;5116122;5116124 sY1227;sY1943;sY1959;sY1960 pseudo 23854 VALIDATED 1603834 CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012] 19 19 19 q13.32 42006785 42018350 + 49894198 49905826 + 45202421 45213986 + 6480464 16139472;21368133;12477932;22544735;23565137 388551 Q2WEN9 ABBA01040880;AC092066;AF479646;AMYH01009842;BC144608;BF589367;EU021223;NG_032692;NM_001039213 AAI56856;AAI60178;AAQ05841;ABS52739;NP_001034302;Q2WEN9 Hs.456381 1656906;1706640 SHGC-82802;STS-N39427 CEAL2;DFNA4B OTTHUMP00000200153;carcinoembryonic antigen like-2 protein;carcinoembryonic antigen-like 2;carcinoembryonic antigen-related cell adhesion molecule 16 APPROVED protein-coding ENSG00000213892 31948 614591;614614 REVIEWED 1642767 CEACAM18 carcinoembryonic antigen-related cell adhesion molecule 18 19 19 19 q13.41 49030878 49037651 + 56671650 56678423 + 51979838 51986611 + 16139472 729767 A8MTB9;F8VQJ4 ABBA01068274;AC020914;AMYH01009952;NM_001080405;NM_001278392 A8MTB9;NP_001073874;NP_001265321 Hs.653111 OTTHUMP00000200212;carcinoembryonic antigen-related cell adhesion molecule 18 protein-coding ENSG00000213822 31949 INFERRED 1604499 CDY1B chromodomain protein, Y-linked, 1B This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Y Y q11.223 24600764 24603549 - 26191376 26194161 - 15489334;14569460;12837688;12815422;12477932;12149400;12072557;11263480;11163833;10956550;10655032;10192397;9806824;9381176;23314748 253175 Q9Y6F8 ABBA01030396;AC068601;AK292318;BC132929;NG_004755;NM_001003894;NM_001003895 AAI32930;BAF85007;NP_001003894;NP_001003895;Q9Y6F8 Hs.562095 2188867;5104946;5106039;5107373;5112343;5115904;5121198 G34975;G65845;G65870;RH103714;sY1260;sY1262;sY639 CDY;CDY1 OTTHUMP00000042554;OTTHUMP00000042555;chromodomain protein, Y chromosome, 1, centromeric;testis-specific chromodomain protein Y 1;testis-specific chromodomain protein on Y, centromeric APPROVED protein-coding ENSG00000172352 23920 16702 REVIEWED 1604722 CDY2B chromodomain protein, Y-linked, 2B This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008] Y Y q11.222 18499534 18501493 - 19990140 19992099 - 9381176;15489334;12815422;12575791;12477932;12438810;12149400;12072557;10655032;10192397;9806824;21145461 203611 C9JMH9;Q9Y6F7 AC009976;BC069087;BC130426;BC130428;NG_004636;NM_001001722 AAH69087;AAI30427;AAI30429;NP_001001722;Q9Y6F7 Hs.532657 2144755;2188869;5021738;5104946;5106039;5107373;5115904 G38355;G65845;G65871;sY1260;sY1261;sY1262;sY639 CDY;CDY2;CDY2A;MGC163298;MGC163300 OTTHUMP00000038921;Y chromosome chromodomain protein 2B;chromodomain protein, Y chromosome, 2 related;testis-specific chromodomain protein Y 2;testis-specific chromodomain protein Y protein 2 related APPROVED protein-coding ENSG00000129873 23921 16701 REVIEWED 1606325 CDYL chromodomain protein, Y-like Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 6 6 6 p25.1 5934977 6184408 + 4651392 4900777 + 4706393 4955778 + 6480464 10192397;19061646;16565220;12947414;12700765;12477932;12072557;10655032;15101818;19730683;19808672;17967884;21685187;22009739;21139048;21890473;21963094;22053931;18450745 9425 C9JQG7;Q9Y424 ABBA01022000;ABBA01022001;ABBA01022002;ABBA01022003;ABBA01022004;AF081258;AF081259;AK291601;AK296985;AL022725;AL050164;AL356747;AL359643;AMYH01016044;AMYH01016045;AMYH01016046;AMYH01016047;AMYH01016048;BC043397;BC061516;BC108725;BC119682;BE874176;BG766689;BQ930016;BU752976;CH471087;NM_001143970;NM_001143971;NM_004824;NR_026590 AAD22734;AAD22735;AAH61516;AAI08726;AAI19683;BAF84290;BAG59526;CAB43304;EAW55168;NP_001137442;NP_001137443;NP_004815;Q9Y232 Hs.269092 1648948;1685784;1693686;1694970;1762133;1765823;1773717;1850017;1852061;1855858;2107921;2123239;2142625;2162307;2162893;5124419 AL035376;CDYL_8937;D6S2104;D6S2182;G17019;G20517;G30950;RH16984;RH36541;RH46718;RH46857;RH80105;SHGC-146031;SHGC-149249;SHGC-58608;WI-16846 CDYL1;DKFZp586C1622;MGC131936 CDY-like, autosomal;OTTHUMP00000015984;OTTHUMP00000211185;OTTHUMP00000211186;OTTHUMP00000211189;bA620A17.2 (chromodomain protein, Y chromosome-like);chromodomain Y-like protein;chromodomain protein, Y chromosome-like, isoform b;testis-specific chromodomain Y-like protein APPROVED protein-coding ENSG00000153046 1811 04803 603778 REVIEWED 1601830 CEACAM20 carcinoembryonic antigen-related cell adhesion molecule 20 19 19 19 q13.31 41814195 41837529 - 49702051 49725388 - 45010211 45033548 - 6480464 16139472;12975309;20379614 125931 A7LFK7;A7LFK8;A7LFK9;A7LFL0;Q6UY09 ABBA01040878;AC069278;AC138472;AMYH01009842;AY358129;CH471126;EU008600;EU008601;EU008602;EU008603;NM_001102597;NM_001102598;NM_001102599;NM_001102600 AAI72298;AAQ88496;ABS57247;ABS57248;ABS57249;ABS57250;EAW57280;NP_001096067;NP_001096068;NP_001096069;NP_001096070;Q6UY09 Hs.689632 UNQ9366 GPAD9366;carcinoembryonic antigen-related cell adhesion molecule 20 protein-coding 24879 18273 VALIDATED 1319946 CDYL2 chromodomain protein, Y-like 2 16 16 16 q23.2 64936574 65136540 - 79195176 79395676 - 80637675 80838175 - 6480464 14702039;12837688;12477932;17577209;19724895;19844255;19851296;20198315;20379614;17207965 124359 H3BS17;Q8N8U2 ABBA01016989;ABBA01016990;ABBA01016991;AC009070;AC092332;AC099313;AK096185;AMYH01007843;AMYH01007844;AX781670;AX781671;AY273798;BC069440;BC100803;BC100804;BC100805;BC100806;BX390259;CH471114;NM_152342 AAH69440;AAI00804;AAI00805;AAI00806;AAI00807;AAP83842;ADQ31980;BAC04720;CAE11953;CAE11965;EAW95563;NP_689555;Q8N8U2 Hs.373908 1660291;1683729;1724477;1724483;2218360;2220272 AB072781;CDYL2_4545;RH122404;RH122500;RH65219;SHGC-60787 FLJ38866;PCCP1 CDY-like 2;chromodomain Y-like protein 2;prostate cancer candidate protein 1, PCCP1 protein-coding ENSG00000166446 23030 10819 VALIDATED 3564433 CEACAM22P carcinoembryonic antigen-related cell adhesion molecule 2, pseudogene 19 19 19 q13.31 41845042 41864301 - 49732885 49751990 - 45041045 45060150 - 20132533 388550 ABBA01040878;ABBA01040879;ABBA01040880;AC138472;AK123850;AK302997;AMYH01009842;NR_027754 BAG53971;BAG64132 Hs.446909 1335569;5014740;5015619;5016478;5037552 D11S3114;D17S610;D19S903;D8S2279;GDB:434012 FLJ41856 pseudo ENSG00000230666 38029 VALIDATED 1345198 CDY2A chromodomain protein, Y-linked, 2A This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008] Y Y q11.221 18647061 18649020 + 20137667 20139626 + 1580863 15489334;12815422;12575791;12477932;12438810;12149400;12072557;11076863;10655032;10192397;9806824;9381176;22820855;20301513;21145461 9426 C9JMH9;Q9Y6F7 ABBA01017229;AC009976;AF080598;AK292233;NG_004636;NG_032921;NM_004825 AAD22733;AAI11920;BAF84922;NP_004816;Q9Y6F7 Hs.251375 2144755;2188869;5021738;5104946;5106039;5107373;5115904 G38355;G65845;G65871;sY1260;sY1261;sY1262;sY639 CDY;CDY2;CDY2B OTTHUMP00000038922;Y chromosome chromodomain protein 2A;chromodomain protein, Y chromosome, 2;chromodomain protein, y-linked, 2;testis-specific chromodomain protein Y 2;testis-specific chromodomain protein Y protein 2 APPROVED protein-coding ENSG00000182415 1810 02459 400018 REVIEWED 10241 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010] 19 19 q13.2 47703298 47724479 - 43011458 43032661 - 1580863;6480464 17620353;22162753;15687237;2457922;17167768;19461083;19407471;19361387;19243897;19146852;19077207;19020551;18843289;18836450;18794798;18705345;18507857;18497748;18453603;18445773;18424730;18278069;18215438;18081725;17979980;17960155;17764466;17761831;17623671;17612570;17605118;17546042;17471435;17143599;17071610;16953805;16929097;16924126;16724098;16633066;16568082;16335952;16332726;16291724;16282604;16246332;16115956;15956076;15952183;15917161;15905509;15604255;15602572;15568039;15536067;15509546;15467833;15356119;15317738;15184366;15057824;15004155;15004154;14990688;14522961;12571236;12522268;12477932;12370272;12122002;12108545;12011132;11994468;11912215;11884449;11850628;11751883;11501563;11293162;11035932;10955775;10882072;10805733;10553088;9867848;8543346;8423792;8055923;8018919;7628460;7626603;7606710;7592607;7504281;2537311;2025273;1572649;385181;11694516;11850617;16344560;19349857;19454653;19545674;19720754;19948502;20034698;20090913;20305326;20406467;20682994;17207965;19487071;21050451;21106423;19633846;20524097;19442569;22932077;21398516;21298042;23010737;21413011;21569294;23319418;20737948;21487066;21695697;22135912;21671129;22064717;22143889;22088515;23243275;22482415;23219815;22209504;22751559;23038226;21982860;22922158;23499736 634 E7EUB1;M0R109;M0R2K4;Q3KRG8;Q9UQV9 A43165;ABBA01040852;AC004785;AK314211;AL833584;AMYH01009832;AY766113;BC014473;BC024164;BU161659;BX485906;CH471126;D12502;D90311;D90312;D90313;DA432598;DQ989182;J03858;JA738597;JA738599;M69176;M72238;M76742;M76743;M76744;NG_029051;NM_001024912;NM_001184813;NM_001184815;NM_001184816;NM_001205344;NM_001712;S71326;X14831;X16354;X16356;X67277 AAA51825;AAA51826;AAA57142;AAA57143;AAA57144;AAA58393;AAA58394;AAB31183;AAC18433;AAC18434;AAC18435;AAC18436;AAC18437;AAC18438;AAC18439;AAH14473;AAH24164;AAV34600;ABI75349;ADQ31758;BAA02063;BAA14341;BAA14342;BAA14343;CAA02704;CAA32940;CAA34404;CAA34405;CAA47694;CCF76951;CCF76952;EAW57137;EAW57138;EAW57139;EAW57140;EAW57141;EAW57142;EAW57143;NP_001020083;NP_001171742;NP_001171744;NP_001171745;NP_001192273;NP_001703;P13688 Hs.512682 1670060;1854430;2157678;2162685;2163401;2186517 D19S1014;SHGC-35228;SHGC-35229;STS-AA024986;STS-M72238;WI-17429 BGP;BGP1;BGPI BGP-1;CD66a antigen;OTTHUMP00000199069;OTTHUMP00000199189;OTTHUMP00000199190;OTTHUMP00000199193;antigen CD66;biliary glycoprotein 1;biliary glycoprotein adhesion molecule;carcinoembryonic antigen-related cell adhesion molecule 1 APPROVED protein-coding ENSG00000079385 1814 00191 109770 REVIEWED 1347882 CEACAM4 carcinoembryonic antigen-related cell adhesion molecule 4 19 19 19 q13.2 38925178 38933270 - 46817184 46825282 - 42125344 42133442 - 1580863;6480464 10737800;2050678 1089 M0R363;O75871 ABBA01040811;AC005794;AC005955;AK298701;AMYH01009820;BF819374;BX644557;BX644579;CH471126;D90276;NM_001817 AAC62829;AAC72273;AAI72306;BAA14320;BAG60859;EAW57054;EAW57055;EAW57056;NP_001808;O75871 Hs.12 1341774;1651093;1662164;1730746;2136005;2167665 D19S197;D19S257;D19S582;G29786;RH78373;STS-D90276 CGM7;CGM7_HUMAN;NCA Nonspecific cross-reacting antigen (NCA);OTTHUMP00000199043;carcinoembryonic antigen CGM7;carcinoembryonic antigen gene family member 7;carcinoembryonic antigen-related cell adhesion molecule 4;non-specific cross-reacting antigen W236;nonspecific cross-reacting antigen W236 protein-coding ENSG00000105352 1816 07628 VALIDATED 1601983 CEACAM19 carcinoembryonic antigen-related cell adhesion molecule 19 19 19 19 q13.31 41979084 41991991 + 49866834 49879352 + 45174724 45187627 + 6480464 12975309;12801635;12477932;20634891 56971 K7EK61;K7ESK4;Q7Z692 ABBA01040880;AC092066;AF406955;AK027157;AK128234;AK291588;AL390165;AMYH01009842;AY358394;BC083499;CH471126;NM_001127893;NM_020219 AAH83499;AAP70002;AAP70003;AAQ88760;BAF84277;EAW57287;EAW57288;EAW57289;NP_001121365;NP_064604;Q7Z692 Hs.416925 1656906;5020946;5022651;5037552 D11S2921;D8S2279;L17971;STS-N39427 CEAL1;MGC105097 OTTHUMP00000200169;OTTHUMP00000200170;carcinoembryonic antigen-like 1;carcinoembryonic antigen-related cell adhesion molecule 19 protein-coding ENSG00000186567 31951 16229 606691 VALIDATED 1349291 CEACAMP1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 19 19 q13.2 39937533 39938072 - 43124325 43137288 - 1572649;1427854 1090 ABBA01040852;ABBA01040853;AC004558;AMYH01009832;M80575;M96921;NG_001096 CEACAM22P;CGM8 pseudo 1821 INFERRED 1351375 CEACAMP10 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 19 19 19 q13.2 40524670 40525581 - 48415980 48416891 - 43724140 43725051 - 7851896;7851895 1098 ABBA01040855;AC005392;AMYH01009835;NG_001104;U06678 CEACAM31P;CGM17 pseudo 1822 INFERRED 1342833 CEACAMP11 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 19 19 19 q13.2 40588129 40589039 - 48479428 48480338 - 43787588 43788498 - 7851896;7851895 1086 ABBA01040855;AC005392;AMYH01009835;NG_001095;U06679 CEACAM32P;CGM18 pseudo 1823 INFERRED 1352759 CEACAMP2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 19 19 19 q13.2 39865403 39865691 - 47756459 47756747 - 43064619 43064907 - 1427854 1091 ABBA01040852;AC004559;AMYH01009832;M96922;NG_001097 CEACAM23P;CGM9 pseudo 1824 INFERRED 1354278 CEACAMP3 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 19 19 19 q13.2 38907481 38907728 + 46799451 46799698 + 42107611 42107858 + 7851896;7851895;1427854 1092 ABBA01040811;AC005955;AMYH01009820;M96923;NG_001098 CEACAM24P;CGM10 pseudo 1825 INFERRED 1350826 CEACAMP4 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 19 19 19 q13.2 40607903 40608199 - 48499194 48499490 - 43807354 43807650 - 7851896;7851895;1427854 1093 ABBA01040855;AC005392;AMYH01009835;M96924;NG_001099 1340469;1779262;1783214 D19S420;SHGC-151143;SHGC-152201 CEACAM25P;CGM11 pseudo 1826 INFERRED 1605603 CEACAM21 carcinoembryonic antigen-related cell adhesion molecule 21 19 19 19 q13.2 38882402 38893067 + 46774371 46785037 + 42082531 42093197 + 6480464 14702039;12975309;12477932;21682944;23065704 90273 B5MCY7;Q3KPI0 ABBA01040811;AC005626;AI565085;AK023602;AMYH01009820;AY358084;BC012001;BC106727;BI833768;CH471126;NM_001098506;NM_033543 AAC34569;AAH12001;AAI06728;AAQ88451;EAW57048;EAW57049;EAW57050;EAW57051;EAW57052;NP_001091976;NP_291021;Q3KPI0 Hs.655885 1772064;2136005 RH47118;STS-D90276 CEACAM3;FLJ13540;MGC119874;R29124_1 OTTHUMP00000199036;OTTHUMP00000199038;OTTHUMP00000199039;carcinoembryonic antigen-related cell adhesion molecule 21 protein-coding ENSG00000007129 28834 10179 VALIDATED 1347337 CEACAMP5 carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 19 19 19 q13.2 39959088 39967953 + 47850043 47859108 + 43158304 43167169 + 7851896;7851895 1085 ABBA01040854;AC004558;AC005204;AMYH01009833;NG_001094;U06672;U06673 1777433 STS-U06673 CEACAM26P;CGM12 pseudo 1827 INFERRED 1351932 CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 Members of the CEACAM subfamily, including CEACAM5, belong to the CEA gene family. For general information on the CEA gene family, see CEACAM1 (MIM 109770).[supplied by OMIM, Oct 2009] 19 19 q13.1-q13.2 46904370 46926277 + 42212530 42234437 + 1580863;6480464 3814146;19476621;19461083;19386089;19383238;19074466;19032382;18846401;18609108;18375392;18219853;18155162;18083270;17951321;17941001;17936797;17852813;17653079;17589956;17286276;17201906;17016692;16804977;16740002;16574224;15905509;15546874;15130118;14566828;12636102;12477932;12420218;12237895;11964079;10931872;10854848;10816511;10800083;8125298;3670312;3356015;3220478;3033671;2955415;2342461;2309067;2286372;11406629;16189514;20592365;20839810;15052268;16169070;18394347;18646695;19214813;19259690;19322585;19430419;19457896;19561534;19629600;19645077;19661342;19661375;19696622;19863186;20034698;20095885;20100688;20121626;20162425;20306655;20361287;19861580;20529812;21115936;20813953;16324274;21219828;18086185;23090273;20373053;23075886;23301361;22563932;21787404;21538056;21573768;21823122;22681921;22941175;22137981;21618511;22414974;22502684;21725636;23449351;21515679;22426691;21988832;22906597;23322207;21982860;23192365;23297055;22382453 1048 H9KVA7;M0QX98;M0R3J1;P06731 ABBA01040811;AC008999;AK223101;AK310844;AMYH01009820;BC034671;CH471126;CQ800159;CR749337;M15042;M16234;M17191;M17303;M29540;M59255;M59710;M60964;NM_004363;X16455;X62151 AAA51963;AAA51964;AAA51967;AAA51968;AAA51972;AAA62835;AAB59513;AAH34671;ABM81766;ABM87752;BAD96821;CAA34474;CAA44076;CAG27582;CAH18191;EAW57059;EAW57060;NP_004354;P06731 Hs.709196 1650413;1661717;1672474;1741267;2160247;2166668;2181284;5022200;5037552 D8S2279;G10616;GDB:180250;L18426;RH46957;SGC32873;SGC35656;STS-M29540;STS-Z21818 CD66e;CEA;DKFZp781M2392 OTTHUMP00000199032;OTTHUMP00000199033;OTTHUMP00000199034;carcinoembryonic antigen-related cell adhesion molecule 5;meconium antigen 100 APPROVED protein-coding 1817 00274 114890 VALIDATED 1343987 CEACAMP6 carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 19 19 19 q13.2 40090188 40091098 - 47981703 47982613 - 43289863 43290773 - 7851896;7851895 1094 ABBA01040855;AC004610;AMYH01009834;NG_001100;U06674 CEACAM27P;CGM13 pseudo 1828 INFERRED 1349495 CEACAMP8 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 19 19 19 q13.2 40345030 40345930 - 48236366 48237266 - 43544526 43545426 - 7851896;7851895 1096 ABBA01040855;AC004784;AMYH01009834;NG_001102;U06676 CEACAM29P;CGM15 pseudo 1830 INFERRED 737213 CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3 This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] 19 19 q13.2 46992374 47007431 + 42300534 42315591 + 1580863;6480464 19089662;19077207;17878338;17506820;17413979;17211733;17071045;16344560;14707113;12864848;12571236;12477932;12005421;11708798;8699114;8508798;2537643;2050678;1427854;8018919;20047061;20071292;20379614;21216968;22948154;20373053;22064717;22469950 1084 G5E978;M0QXR5;P40198 ABBA01040812;AC022516;AK298694;AMYH01009820;BC106728;CH471126;D90277;D90278;DA674909;DC428993;E03348;E03349;L00692;L00693;M22433;NM_001277163;NM_001815;NR_102333;X16454 AAA51965;AAA51969;AAA51970;AAI06729;BAA14321;BAA14322;BAH12850;CAA34473;EAW57062;EAW57063;EAW57064;EAW57065;NP_001264092;NP_001806;P40198 Hs.11 1764709;2151231;2186267 D19S1099;SHGC-148301;STS-D90277 CD66D;CEA;CGM1;MGC119875;W264;W282 CD66d antigen;OTTHUMP00000196408;OTTHUMP00000196409;carcinoembryonic antigen CGM1;carcinoembryonic antigen gene family member 1;carcinoembryonic antigen-related cell adhesion molecule 3;nonspecific cross-reacting antigen APPROVED protein-coding ENSG00000170956 1815 16450 609142 REVIEWED 1352963 CEACAMP7 carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 19 19 19 q13.2 40254160 40255072 - 48145495 48146407 - 43453655 43454567 - 7851896;7851895 1095 ABBA01040855;AC004679;AMYH01009834;NG_001101;U06675 CEACAM28P;CGM14 pseudo 1829 INFERRED 1346052 CEACAMP9 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 19 19 19 q13.2 40401101 40402012 - 48292441 48293352 - 43600601 43601512 - 7851896;7851895 1097 ABBA01040855;AC005791;AC024077;AMYH01009835;NG_001103;U06677 CEACAM30P;CGM16 pseudo 1831 INFERRED 1348231 CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7 19 19 q13.2 46869073 46883936 - 42177235 42192096 - 1580863 7806520;16627067;15489334;15340161;15057824;12477932;10666389;10436421;9533775;9135022;2537643;1427854;20004437;22195770 1087 Q14002 ABBA01040811;AC005797;AF006622;AF006623;AK292213;AK296634;AK311285;AK313108;AMYH01009820;BC121132;CH471126;L31792;M22434;NM_006890;U04349;X98311 AAA03663;AAA51966;AAA66186;AAB62924;AAB62925;AAC62825;AAC62826;AAI21133;BAF84902;BAG35930;BAG59236;CAA66955;EAW57057;EAW57058;NP_008821;Q14002 Hs.74466 2126446;2218362 CEACAM7_4185;RH47047 CEA;CGM2 OTTHUMP00000199040;OTTHUMP00000199041;carcinoembryonic antigen CGM2;carcinoembryonic antigen gene family member 2;carcinoembryonic antigen-related cell adhesion molecule 7 protein-coding ENSG00000007306 1819 07629 PROVISIONAL 1343324 CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8 19 19 q13.2 47776235 47790890 - 43084395 43099082 - 1580863;6480464 17909799;2208113;2306228;17167768;19077207;18056392;15489334;15057824;12477932;12379336;11994468;11095950;10520185;9427723;2022629;1427854;16740002;16344560;21470677 1088 B4DLI3;M0R1X3;P31997;Q0Z7S6 ABBA01040852;AC004558;AK297012;AK312652;AMYH01009832;BC026263;CH471126;D90064;DA464901;DQ822518;M33326;NM_001816;X52378;Z95119 AAA59914;AAC13659;AAH26263;ABG46943;ABM82897;ABM86087;BAA14108;BAG35535;BAG59545;CAA36604;CAB08298;EAW57144;NP_001807;P31997 Hs.41 1858362;5014051;5015619;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;RH78372 CD66b;CD67;CGM6;NCA-95 CD67 antigen;OTTHUMP00000199199;carcinoembryonic antigen CGM6;carcinoembryonic antigen gene family member 6;carcinoembryonic antigen-related cell adhesion molecule 8;non-specific cross-reacting antigen NCA-95 protein-coding ENSG00000124469 1820 07630 VALIDATED 1350005 CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) Carcinoembryonic antigen (CEA; MIM 114890) is one of the most widely used tumor markers in serum immunoassay determinations of carcinoma. An apparent lack of absolute cancer specificity for CEA probably results in part from the presence in normal and neoplastic tissues of antigens that share antigenic determinants with the 180-kD form of CEA (Barnett et al., 1988 [PubMed 3220478]). For background information on the CEA family of genes, see CEACAM1 (MIM 109770).[supplied by OMIM, Mar 2008] 19 19 q13.2 46951341 46967953 + 42259398 42276113 + 1580863;6480464 19329538;22396546;3220478;17167768;19411761;18331757;18223215;19077207;17960155;17909799;17653079;17525800;17503391;17286276;17201906;16899629;16740002;16344560;16115956;15826304;15489334;15340161;15316565;15208677;15130118;15081416;14724575;12571231;12477932;12005421;11994468;11896570;11095950;10737800;10666389;9266023;8018919;3619891;3527416;3337731;3128509;2830274;2612212;2341397;2332039;2022629;20047061;21559399;14512395;20063526;21618249;22064717;21832049;21470677;22037359;21982860;23603913;21994005;23027178;22975528;23021083 4680 M0QYD3;P40199 ABBA01040811;AC011513;AK312542;AMYH01009820;BC005008;BI015601;BT009774;CH471126;DA442875;M17082;M18216;M18728;M29541;NM_002483 AAA51739;AAA51971;AAA59907;AAA59908;AAA59909;AAA59915;AAH05008;AAP88776;BAG35441;EAW57061;NP_002474;P40199 Hs.466814 1742073;2161226;5125725 D19S1032;GDB:190840;RH67879 CD66c;CEAL;NCA OTTHUMP00000199042;carcinoembryonic antigen-related cell adhesion molecule 6;non-specific crossreacting antigen;normal cross-reacting antigen APPROVED protein-coding ENSG00000086548 1818 01233 163980 VALIDATED 736554 CEBPD CCAAT/enhancer binding protein (C/EBP), delta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010] 8 8 p11.2-p11.1 48812029 48813279 - 48649476 48650726 - 1298752;1580863;625506;6480464;6484113 1884998;11792653 8314590;18753137;18660489;18370833;17910034;17903252;17562792;17373909;17234736;16997058;16914534;16397300;16322893;16195339;15901830;15718495;15674331;15588942;15486993;15389879;15389878;15212823;12937035;12857754;12825852;12554732;12477932;12177065;11851384;11741938;9570146;8946919;7789168;7594592;1840554;1741402;1638120;12524424;20805509;20829351;19800021;19806320;19811452;20385105;20460359;18477566;18619497;20971808;21072181;23028973;22037769;21666710;19471022;21112127;21693764;17098861;21980073;21612582 1052 P49716;Q504X4 ABBA01041637;AC023991;AMYH01018702;BC094715;BC105109;BQ773696;CH471068;M83667;NM_005195;S63168 AAA59927;AAB27293;AAH94715;AAI05110;ACE86489;ACE87170;EAW86679;NP_005186;P49716 Hs.440829 1684347;2113128;2154196;5493113 D8S2307;RH70217;RH79863;UniSTS:484347 C/EBP-delta;CELF;CRP3;NF-IL6-beta CCAAT/enhancer-binding protein delta;OTTHUMP00000221850;c/EBP delta;ccaat/enhancerbinding, protein (c/ebp) delta;nuclear factor NF-IL6-beta APPROVED protein-coding 1835 00297 116898 REVIEWED 1347678 CECR cat eye syndrome chromosome region 7240710 1055 1838 69121 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain promoters and enhancers. It can also form heterodimers with the related proteins CEBP-beta and CEBP-gamma. The encoded protein has been shown to bind to the promoter and modulate the expression of the gene encoding leptin, a protein that plays an important role in body weight homeostasis. Also, the encoded protein can interact with CDK2 and CDK4, thereby inhibiting these kinases and causing growth arrest in cultured cells. [provided by RefSeq, Jul 2008] 19 19 q13.1 38482776 38485160 - 33790840 33793430 - 704404;1625368;1580863;704418;6480464;6484113;6907045;7240710 16172914;12865412 21869759;7575576;15664994;8643605;19453261;19351817;19347879;19304957;19289855;19277035;19228936;19221039;19171880;19126543;19121862;19089912;19059939;19054766;19035457;19020539;18949049;18946494;18809607;18786141;18776924;18768433;18765514;18757096;18729193;18663475;18660489;18616509;18587575;18559874;18524846;18481268;18451139;18450602;18414493;18313667;18308386;18302931;18263877;18182175;18024476;17989362;17894555;17855628;17851556;17671234;17671233;17671232;17637739;17554374;17504763;17475913;17372916;17347301;17203171;17190859;17188819;17082780;16983342;16893891;16873674;16870193;16858416;16788101;16644732;16537832;16455947;16325577;16226872;16076867;16046528;15928042;15919796;15867211;15855281;15777798;15746035;15684384;15674366;15604894;15575056;15572670;15479564;15340105;15150264;15078966;14766209;14737106;14726504;14701740;14656889;14627805;14517214;12970736;12925529;12915572;12873812;12869508;12861022;12855590;12825852;12757710;12730330;12695546;12692518;12661007;12594283;12592334;12554785;12522006;12522000;12511558;12509469;12493739;12477932;12410800;12393450;12351377;12242300;12145325;12091339;12080077;12069855;12036869;12011976;11997389;11978795;11912209;11830484;11818365;11809705;11684017;11242107;10725330;10567568;10470496;9191024;9139739;8758458;8288579;1840554;1638120;1535333;1427819;11302752;14734562;12524424;9817600;15588942;22389883;17098861;22442349;18239623;12668682;19322201;20385772;22212957;22649106;20622021;20510075;21402921;21346772;10082561;11340085;11893744;12857754;1563207;16490787;16582099;17431401;18931025;19059241;19371798;19523687;19536888;19561324;19583951;19623175;19631360;19644139;19651529;19662097;19672300;19731081;19797526;19811452;19865112;19901962;19953636;19965647;20018373;20032083;20038735;20075868;20101026;20306678;20368538;20421268;20439648;20460359;20492756;20495894;20513120;8499951;9372966;20659895;20368469;20625112;20157332;19659458;20456351;20817090;21038412;20628397;20371743;20347819;20422469;20534483;16880509;18817785;20888888;16357103;16452305;20963938;20927134;20884804;20889924;20970189;21177436;15713621;20671051;21134981;21619898;20398657;22249251;23086932;23100311;21389317;21410980;20536385;21345218;21403128;21734268;21362229;22260161;22362118;22474248;20723288;21399661;20137111;22170698;22355045;22456356;21503969;21880716;21109558;21538063;21674360;21737519;22013073;21693764;21890473;22184113;22391813;23233059;23252456;21988832;22981865;19471022;21326902;22349414;22689263;23473759;23598402;23383300;2366175;22398723;22731647;11867521;20336759;22851180;22869521 1050 P49715;Q6P3S4 ABBA01012597;ABBA01012598;AC008738;AMYH01009702;AMYH01009703;BC027902;BC063874;EU048234;NG_012022;NM_004364;U34070;X87248;Y11525 AAC50235;AAH27902;AAH63874;AAI60133;ABS82765;CAA60698;CAA72289;NP_004355;P49715 Hs.76171 1653341;1778477;1795554;2131621;2133256;2148158;2187000;5021953;5492563;5493387 A002S24;CEBPA_537;Cebpa;RH64933;SHGC-35476;STS-T52003;STS-X87248;UniSTS:481683;UniSTS:485918;WI-16546 C/EBP-alpha;CEBP CCAAT/enhancer-binding protein alpha;OTTHUMP00000220269;c/EBP alpha;ccaat/enhancer binding protein, alpha APPROVED protein-coding ENSG00000245848 1833 00296 116897;601626 REVIEWED 2303684 CEBPA-AS1 CEBPA antisense RNA 1 (head to head) 19 19 19 q13.11 30487328 30489528 + 38485567 38487803 + 33793763 33795963 + 14702039;12477932 80054 ABBA01012596;AC008738;AK022417;AL522369;AMYH01009703;BC027959;BC113872;BC114482;NG_012022;NR_026887 BAB14032 Hs.287521 1778477;2131621;5021953;5493627 Cebpa;SHGC-35476;STS-X87248;UniSTS:489947 FLJ12355 APPROVED miscrna ENSG00000267296 25710 07766 VALIDATED 1346490 CECR3 cat eye syndrome chromosome region, candidate 3 (non-protein coding) 22 17737749 17747623 - 11381032 27442 ABBA01001453;ABBA01001454;AC005399;AF277398;AMYH01012431;NR_038398 Hs.517394 APPROVED miscrna ENSG00000241832 1841 VALIDATED 736208 CEBPB CCAAT/enhancer binding protein (C/EBP), beta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related proteins CEBP-alpha, CEBP-delta, and CEBP-gamma. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses and has been shown to bind to the IL-1 response element in the IL-6 gene, as well as to regulatory regions of several acute-phase and cytokine genes. In addition, the encoded protein can bind the promoter and upstream element and stimulate the expression of the collagen type I gene. [provided by RefSeq, Jul 2008] 20 20 q13.1 48240783 48242619 + 48807120 48809227 + 1300293;1300295;1300294;1580863;625506;6480464;6484113;6907045 9727068;11313242;10747954;11792653 2112087;10821850;19248099;19222842;19169276;19126543;19109189;19088256;19064995;19043455;19014341;18809921;18786141;18703796;18682709;18660489;18647749;18512730;18339625;18294142;18198130;18182446;17989362;17928076;17921324;17785586;17705277;17675296;17652082;17620318;17616429;17596295;17583490;17570496;17540774;17513780;17504763;17351148;17335903;17303761;17251582;17203171;16959612;16820889;16785565;16709933;16608438;16563127;16465418;16458921;16453302;16418324;16399783;16318580;16307770;16227626;16026328;16009338;15879117;15878863;15785238;15778453;15777798;15777639;15762841;15710476;15688424;15561713;15498874;15489334;15385533;15381907;15102854;15082764;15044620;14976428;14759369;14729647;14728809;14670999;14645007;14530280;12970736;12947119;12900520;12873812;12857754;12847250;12825852;12821655;12810706;12773552;12748173;12707271;12706815;12692227;12670924;12665574;12631601;12618752;12574125;12524424;12505790;12496392;12493739;12482935;12479114;12477932;12410800;12393563;12367750;12242300;12213825;12202226;12177065;12167619;12161447;12151100;22095691;12095417;12071851;12036869;11997389;11893744;11825899;11801594;11792321;11780052;11756662;11751971;11748221;11741938;11726507;11668178;11596110;11580138;11500490;11466389;11257229;11158330;11018027;10775602;10635333;10619021;10318842;10196196;9885903;9817600;9742105;9712049;9570146;9553145;9506442;9495318;9343424;9169458;9139739;9032301;8972203;8855267;8662954;8622667;8384717;8113688;8040336;7651415;7635140;7594592;1884998;11684016;19322201;21638299;1840554;1741402;1638120;1547942;1535333;1518839;1427819;1314426;17031851;16511829;15775988;12202480;17387179;20225273;21595849;20385540;17724128;18852215;19116245;19133313;19335620;19487031;19489038;19523687;19592659;19632992;19641492;19652226;19690170;19717648;19723873;19733238;19734226;19747512;19811452;19903813;19962993;20004457;20032975;20099975;20351173;20460359;8552662;19453261;20583135;19324970;20562859;20638476;20699097;20653818;20702408;20452968;20605485;20690902;16651265;19029947;20209087;16303757;19806478;20818427;20948428;21098707;21048943;15308669;15870285;18203738;18310298;20797423;21303932;21343335;21447826;18628207;22728165;17257825;17301242;21345218;21389327;22763786;22911498;22921787;22955269;20224108;21283634;21308746;20110283;20111005;20194620;20015877;21883217;21145827;21558273;21804532;21302301;21344389;21471847;21545825;21998664;22013073;22080951;21693764;21963094;21980398;22374303;21612443;21854628;21899882;21917825;22242598;19471022;21689417;21326902;22152057;22379085;22538425;22689263;23097472;22860016;23000965;22818222;23128233;20145198;20336759;20970301;21612582;22422068 1051 P17676;Q9BSC0 ABBA01052774;ABBA01052775;AF289608;AK291536;AL161937;AMYH01011971;AMYH01011972;AW025406;AY193834;BC005132;BC007538;BC021931;BU753628;CH471077;D63161;DB457615;M98056;NG_029019;NM_005194;X52560 AAH05132;AAH07538;AAH21931;AAL55792;AAN86350;ACE87071;ACE87752;BAA09637;BAF84225;CAA36794;EAW75629;NP_005185;P17676 Hs.517106;Hs.719041;Hs.720603 1648802;1668415;5022070 D20S728;RH17476;STS-H26183 C/EBP-beta;CRP2;IL6DBP;LAP;MGC32080;NF-IL6;TCF5 CCAAT/enhancer-binding protein beta;OTTHUMP00000031262;TCF-5;c/EBP beta;interleukin 6-dependent DNA-binding protein;liver activator protein;liver-enriched transcriptional activator protein;nuclear factor NF-IL6;nuclear factor of interleukin 6;transcription factor 5 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431;2316046 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H;GLUCO192_H APPROVED protein-coding ENSG00000172216 1834 01801 189965 REVIEWED 1344655 CECR5-AS1 CECR5 antisense RNA 1 22 22 22 q11.1 1261583 1267636 + 16020283 16026329 + 17640279 17646335 + 11381032 100130717 ABBA01001456;AC006946;AF307448;AMYH01012427;AW293178;BI962745;NR_024482;NR_024483 AAK30048 Hs.660066 1698154 RH102610 CECR4;NCRNA00017 APPROVED miscrna ENSG00000185837 1842 VALIDATED 1350048 CECR2 cat eye syndrome chromosome region, candidate 2 22 22 22 q11.2 1579045 1656270 + 16336630 16413845 + 17956630 18033845 + 1580863;6480464 12762840;11827465;15640247;14702039;11381032;11214970;20379614;22395867;21139048;22154806;22623531;22699752 27443 B7WPH3;E2QRE6;H0Y2Z1;H7BXW8;Q9BXF3 AB051527;ABBA01001445;ABBA01001446;ABBA01001447;ABBA01001448;ABBA01001449;AC004019;AF336133;AF411609;AK091754;AK308330;AL832377;AMYH01012434;AMYH01012435;BX647449;NM_031413 AAI66664;AAK15343;AAL07393;BAB21831;CAH56122;CAH56212;NP_113601;Q9BXF3 Hs.658723 1339581;1644269;1681078;1688046;1713221;1729183;1751171;1751629;2117185;2150173;5024543;7186525 D1S3690;D22S137;D22S420;G18171;RH120398;RH1699;RH65881;RH98562;SHGC-105082;SHGC-105575;SHGC-60699 KIAA1740 OTTHUMP00000196153;OTTHUMP00000196214;cat eye syndrome chromosome region, candidate 2;cat eye syndrome critical region protein 2 protein-coding ENSG00000099954 1840 607576 VALIDATED 1349802 CECR6 cat eye syndrome chromosome region, candidate 6 22 22 22 1219483 1224551 - 15977190 15982143 - 17597189 17602257 - 6480464 15146197;14702039;11381032;20237496;19336002;16344560 27439 Q9BXQ6 ABBA01001458;ABBA01001459;AC006946;AF307451;AK055398;AK095437;AK095609;AMYH01012423;AMYH01012424;BG472529;BQ006940;CH471193;CN365831;DA814825;NM_001163079;NM_031890 AAK30049;EAW57744;NP_001156551;NP_114096;Q9BXQ6 Hs.209577 2109125;2154544 CECR6_9556;RH77980 OTTHUMP00000028726;OTTHUMP00000196141;cat eye syndrome chromosome region, candidate 6;cat eye syndrome critical region protein 6 protein-coding ENSG00000183307 1844 16704 VALIDATED 1349309 CECR9 cat eye syndrome chromosome region, candidate 9 11381032 30847 P0C854 AF307449 Hs.542791 protein-coding 1847 733093 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 14 14 q11.2 22656355 22658314 - 23586515 23588820 - 1580863;1300295;6480464;7240710 11313242 18029348;18832658;18776924;17688422;17562868;17483073;17347301;17255362;17244686;16918696;16788101;15489334;15308577;12947005;12522000;12515729;12477932;12393450;19109189;12202480;12161447;12036869;11861297;11753076;10359588;10233885;9177240;9032264;8661101;1884998;1638120;15588942;12805554;19684604;20042726;20211142;20661648;17042743;23608171;23661758;22137487;21988832;22939624;23016962;23512250 1053 Q15744 ABBA01061308;AL117258;AMYH01005602;BC035797;BG387972;BX346756;BY995857;CH471078;NG_009617;NM_001805;U48865;U48866;U80982 AAC50708;AAC50709;AAC51130;AAH35797;ABZ92382;ACE86633;ACE87315;EAW66183;NP_001796;Q15744 Hs.558308 1334756;1682636 D14S990;RH75880 C/EBP-epsilon;CRP1 CCAAT/enhancer-binding protein epsilon;OTTHUMP00000164547;c/EBP epsilon APPROVED protein-coding ENSG00000092067 1836 02852 245480;600749 REVIEWED 735927 CEBPG CCAAT/enhancer binding protein (C/EBP), gamma The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011] 19 19 q13.11 38556449 38565432 + 33864575 33873592 + 1298752;1580863;6480464;6907045 1884998 7665092;7501458;16255782;17893230;16189514;15489334;12805554;12618752;12477932;12177065;8628277;8089482;1709121;1377818;1371974;18029348;20237496;15146197;19322201;22437320;12757710;21890473;21906983;15588942;23160200;23000965;23128233 1054 K7ELC9;P53567 ABBA01012594;AC008744;AK313634;AMYH01009704;BC007582;BC013128;BT019819;BT019820;CB993585;CN353219;NM_001252296;NM_001806;U20240 AAC50201;AAH07582;AAH13128;AAV38622;AAV38623;ABM87454;ABW03893;BAG36393;NP_001239225;NP_001797;P53567 Hs.429666 1656487;1672551;1688450;1734698;1769273;1779070;1795556;2114843;2129552;2161216;2173694 A008N41;CEBPG_539;D19S1116;D19S658E;D19S695E;D19S722;RH18013;RH79127;RH91734;SHGC-35371;STS-T83376 GPE1BP;IG/EBP-1 CCAAT/enhancer-binding protein gamma;c/EBP gamma APPROVED protein-coding ENSG00000153879 1837 00738 138972 REVIEWED 1312755 CEBPZ CCAAT/enhancer binding protein (C/EBP), zeta 2 2 2 p22.2 37269769 37299695 - 37282276 37312244 - 37428772 37458740 - 1580863;6480464 2247079;17081983;16565220;16331558;15815621;15635413;15489334;12534345;12477932;12446671;11790298;11592063;11306579;8604343;20211142;21106240;20810990;19471022;21139048;21890473;21906983;22139845;21900206;22178446;22586326 10153 C9J9W7;Q03701 ABBA01074978;AC007390;AK312322;AMYH01010259;BC034475;CH471053;M37197;NM_005760 AAA51924;AAH34475;AAY14815;BAG35244;EAX00403;NP_005751;Q03701 Hs.135406 1739237;2119252;2125961;2153218;2176010;2187552;5491503 D2S1925;MARC_16193-16194:1033403679:1;RH70014;RH70208;SHGC-32572;SHGC-35993;SHGC-56390 CBF;CBF2;HSP-CBF;NOC1 CCAAT-binding factor;CCAAT-box-binding transcription factor;CCAAT/enhancer binding protein zeta;CCAAT/enhancer-binding protein zeta;OTTHUMP00000126952 protein-coding ENSG00000115816 24218 09875 612828 VALIDATED 1350853 CECR7 cat eye syndrome chromosome region, candidate 7 (non-protein coding) 22 22 22 q11.1 1139734 1161961 + 15897157 15917634 + 17517460 17539682 + 14702039;12483300;12477932;11381032 100130418 ABBA01001459;ABBA01001460;AC006946;AK098045;AMYH01012423;AY026052;BC043198;NR_015352 Hs.660640 1736784 D22S1037 FLJ40726;SAHL1 miscrna ENSG00000237438 1845 PREDICTED 1353390 CECR1 cat eye syndrome chromosome region, candidate 1 This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 1281480 1312039 - 16040192 16070779 - 17660192 17690779 - 1580863;6480464 10756095;18029348;16303743;15926889;15489334;15461802;14702039;12477932;11381032;11311551;20147294;20379614;16159877;22558798 51816 B4E3Q4;C9IZA8;F5H7J3;Q9NZK5 AB209648;ABBA01001456;AC005300;AF190746;AK027682;AK074702;AK130725;AK292689;AK295174;AK304818;AK314321;AMYH01012429;AMYH01012430;AMYH01012431;BC051755;BX111961;CH471193;CR456417;NM_017424;NM_177405 AAF65941;AAH51755;ABZ92046;BAB55293;BAC11148;BAD92885;BAF85378;BAG36969;BAG58184;BAG65566;CAG30303;CAK54409;CAK54708;EAW57750;EAW57751;NP_059120;NP_803124;Q9NZK5 Hs.170310 1852184;5015861;7185938 D10S16;STS-R50108 ADA2;ADGF;IDGFL OTTHUMP00000028854;OTTHUMP00000196142;OTTHUMP00000196143;OTTHUMP00000196144;adenosine deaminase 2;adenosine deaminase CECR1;cat eye syndrome critical region protein 1 APPROVED protein-coding ENSG00000093072 1839 10462 607575 REVIEWED 1315242 CECR5 cat eye syndrome chromosome region, candidate 5 22 22 22 1240395 1267478 - 15998410 16026177 - 17618410 17646177 - 1580863;6480464 18029348;15862967;15489334;14702039;12477932;11381032;20877624;20186120;21139048;21906983 27440 A8MYZ9;Q9BXW7 ABBA01001456;ABBA01001457;AC006946;AF273270;AF273271;AK000461;AK001034;AK123646;AK315156;AL833450;AMYH01012426;AMYH01012427;BC042540;BF515203;BM558767;CH471193;NM_017829;NM_033070 AAH42540;AAK19151;AAK19152;BAA91180;BAA91475;BAG37602;BAG53930;EAW57747;EAW57748;NP_060299;NP_149061;Q9BXW7 Hs.26890 1643646;1680056;1698154 D22S969E;RH102610;RH80488 OTTHUMP00000196150;OTTHUMP00000196151;cat eye syndrome chromosome region, candidate 5;cat eye syndrome critical region protein 5 protein-coding ENSG00000069998 1843 16703 VALIDATED 737498 CEL carboxyl ester lipase The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008] 9 9 q34.3 134927186 134937069 + 135937365 135947248 + 1300048;1580863;2313965;2313969;2313967;2313964;2313971;6480464;7240710 17259390;9536927;10580419;16369531;8446851 12166660;2318975;7350912;7578248;2265692;7350913;12031288;1854805;18029348;18803939;18544793;18037996;17005819;16266293;15841033;15114370;12853459;12821548;12721789;12477932;12110666;11945176;11733511;11563913;11148205;11045623;10024660;9813053;9774442;9530636;9445398;9404644;9353334;9244386;8601635;8424803;7768954;7691717;7654718;7588748;7514266;3995055;2600091;2066663;1991511;1988041;1698625;1676983;1639390;1627550;19760265;19948975;8639615;19913121;20628086;21346236;21386960;21784842;21865348;23395566;22412885;21988832;22956586 1056 B4DSX9;O75612;P19835;Q86SR3 ABBA01032473;ABBA01032474;AF072711;AF081673;AK299965;AL162417;AMYH01021794;AMYH01021795;BC042510;BE045879;CH471090;CS180412;M85201;M94579;NG_016394;NM_001807;S40178;S70517;S79774;X54457 AAA51973;AAA52014;AAB22537;AAB35488;AAC26514;AAC71012;AAH42510;BAG61791;CAA38325;CAJ40733;EAW88030;EAW88031;EAW88032;EAW88033;NP_001798;P19835 Hs.533258 1680980 RH79630 BAL;BSDL;BSSL;CELL;CEase;FAP;FAPP;LIPA;MODY8 OTTHUMP00000022450;bile salt-activated lipase;bile salt-dependent lipase, oncofetal isoform;bile-salt-activated lipase;bucelipase;carboxyl ester hydrolase;carboxyl ester lipase;carboxyl ester lipase (bile salt-stimulated lipase);cholesterol esterase;fetoacinar pancreatic protein;lysophospholipase, pancreatic;pancreatic lysophospholipase;sterol esterase APPROVED protein-coding ENSG00000170835 1848 07509 114840;609812 REVIEWED 1606295 CELA2B chymotrypsin-like elastase family, member 2B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008] 1 1 1 p36.21 14285468 14300765 + 15675183 15690482 + 15802596 15817895 + 3427074;3646943;16327289;15489334;12477932;17207965;19773279;17192395 51032 P08218;Q5JRU4;Q6ISP9 ABBA01004708;ABBA01004709;ABBA01004710;ABBA01004711;AL512883;AMYH01000270;BC069412;BC069455;BC113540;BC113542;BC171735;BU070386;CH471167;M16653;NM_015849 AAA52381;AAH69412;AAH69455;AAI13541;AAI13543;ADQ32917;ADR82901;EAW51728;NP_056933;P08218 Hs.631871 1790335;1848686;2124737 ELA1;RH67819;SHGC-36104 ELA2B;MGC142100;MGC142102;MGC97052;RP11-265F14.2 OTTHUMP00000002327;chymotrypsin-like elastase family member 2B;elastase 2B;elastase-2B;pancreatic elastase IIB (ELA2B) APPROVED protein-coding ENSG00000215704 29995 06496 609444 REVIEWED 736392 CELA1 chymotrypsin-like elastase family, member 1 Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009] 12 12 q13 50008494 50026730 - 51722227 51740463 - 1580863;6480464 15489334;12477932;10620133;9175736;8575772;3648024;1633328;19913121;20628086;1079736;20346360;20379614;6153632;6191979;8794736;8864963;9111002;23395568;23251661 1990 Q14237;Q9UNI1 ABBA01031611;AC046135;AF120493;AMYH01004464;AY740424;BC069454;BC075091;CH471111;D00159;NM_001971;X05293;X62258 AAD28441;AAH69454;AAH75091;AAV88109;BAA00117;CAA28916;EAW58189;NP_001962;Q9UNI1 Hs.348395 1736868 D12S1273 ELA1 OTTHUMP00000236087;chymotrypsin-like elastase family member 1;elastase 1, pancreatic;elastase-1;pancreatic elastase 1 APPROVED protein-coding ENSG00000139610 3308 00553 130120 REVIEWED 1602468 CELA2A chymotrypsin-like elastase family, member 2A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009] 1 1 1 p36.21 14266097 14281458 + 15655811 15671170 + 15783223 15798586 + 6480464 2834346;16710414;16327289;16247445;15489334;15342556;14702039;12477932;11729383;3646943;3427074;2307232;20932654;19913121;20628086;17207965 63036 P08217 ABBA01004711;AK056678;AK312198;AL512883;AMYH01000270;BC007031;BC069331;BC069432;BP324428;BQ787677;CH471167;CR450291;D00236;M16631;M16652;NM_033440 AAA52374;AAA52380;AAH07031;AAH69331;AAH69432;ADQ32929;BAA00165;BAG35131;BAG51782;CAG29287;EAW51727;NP_254275;P08217 Hs.631866 1848686;2124737;5091040 RH67819;RH71372;SHGC-36104 ELA2A;PE-1 OTTHUMP00000002326;chymotrypsin-like elastase family member 2A;elastase 2A;elastase-2A;pancreatic elastase 2;pancreatic elastase IIA APPROVED protein-coding ENSG00000142615 24609 06495 609443 REVIEWED 1346009 CELA3A chymotrypsin-like elastase family, member 3A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 20651145 20662036 + 22200736 22211622 + 22328149 22339035 + 1580863 2460440;2826474;15489334;12477932;12373299;8125298 10136 B1AQ52;B1AQ54;B1AQ55;P09093 ABBA01059840;AK225620;AK308510;AK308514;AK308518;AL031281;AL590556;AMYH01000343;AMYH01000344;AW583482;BC005918;BC007028;BC008383;BC015103;BI833796;CH471134;D00306;M18700;NM_005747 AAA66350;AAH05918;AAH07028;AAH08383;AAH15103;ABM84108;ABM87489;BAA00212;EAW95000;EAW95001;NP_005738;P09093 Hs.181289;Hs.728752 1672549;1680214;1770881 RH93521;SHGC-74350;SHGC-74352 ELA3;ELA3A OTTHUMP00000002835;chymotrypsin-like elastase family member 3A;elastase 1;elastase 3A, pancreatic;elastase 3a, pancreatic (protease e);elastase IIIA;elastase-3A;protease E APPROVED protein-coding ENSG00000142789 15944 06497 REVIEWED 1317234 CELA3B chymotrypsin-like elastase family, member 3B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009] 1 1 p36.12 22176005 22188434 + 22303418 22315847 + 1580863;6480464 2675835;22094930;2460440;2737288;2826474;19073396;18424365;18362841;17989309;17103488;16710414;15489334;15351720;15277440;14702039;12477932;10686036;7634150;6191979;6153632;3928381;3477287;3178837;2753124;1079736;20428826;22749648 23436 P08861 ABBA01059837;ABBA01059838;ABBA01059839;AK092382;AK315798;AL590556;AMYH01000343;BC005216;BI760781;BX497562;BX499439;CH471134;M16630;M18692;NM_007352 AAA36482;AAA58454;AAH05216;BAG38141;EAW94998;EAW94999;NP_031378;P08861 Hs.728752 1672549;1770881 SHGC-74350;SHGC-74352 CBPP;E1;EL-1;ELA3B OTTHUMP00000002837;cholesterol-binding pancreatic protease;chymotrypsin-like elastase family member 3B;elastase 1;elastase 3B, pancreatic;elastase IIIB;elastase-3B;fecal elastase 1;pancreatic elastase 1;pancreatic endopeptidase E;protease E;proteinase E APPROVED protein-coding ENSG00000219073 15945 06498 REVIEWED 7177065 CELF2-AS2 CELF2 antisense RNA 2 10 p14 11113504 11147451 - 12477932;16344560 439950 ABBA01034697;ABBA01034698;AL138769;AMYH01002025;BC046381;CH471072;DB336852;NR_046108 EAW86354 Hs.568157 miscrna 44703 VALIDATED 1351727 CELIAC2 celiac disease 2 7240710 11415521;11840196 317782 19378 1353568 CELIAC3 celiac disease 3 7240710 10372542;11098935 317783 19376 140300;601388;609755 1351252 CELIAC4 celiac disease 4 7240710 14517787 378773 19377 609753 1348182 CELP carboxyl ester lipase pseudogene 9 9 9 q34.3 106499622 106504174 + 134947747 134952564 + 135957926 135962478 + 6480464 7691717;3909943;1639390;1627550 1057 Q14018 ABBA01032472;ABBA01032473;AF072711;AL162417;AMYH01021794;AMYH01021795;AMYH01021796;AW582943;L14813;M94580;NR_001275 AAA16357 Hs.654361 CELL;FLJ25862;cell1;cell2;cell3 pseudo 1849 VALIDATED 1319873 CELF3 CUGBP, Elav-like family member 3 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 1 1 1 q21 124787166 124803919 - 149941454 149955914 - 151672534 151689290 - 1580863;6480464 11158314;17725984;14702039;12477932;10893231;9225980;16169070;19913121;20628086;16713569;15009664;21900206 11189 B4DQL3;H0Y623;Q59G45;Q9HB30 AB209264;ABBA01049403;AF284423;AF329264;AK123206;AK298852;AL589765;AMYH01001394;AY165003;AY165053;BC004145;BC041088;BC052491;BC068008;BC104758;BC143226;CH471121;DR001924;NM_001172648;NM_001172649;NM_007185;U80746;U80759 AAB91444;AAB91450;AAG14457;AAH04145;AAH52491;AAH68008;AAI04759;AAI43227;AAK07474;AAN73884;AAN73886;BAD92501;BAG60975;EAW53419;EAW53420;EAW53421;EAW53422;NP_001166119;NP_001166120;NP_009116;Q5SZQ8 Hs.26047 1855545;2107697;5112335 RH103590;SHGC-30813;TNRC4__5113 BRUNOL1;CAGH4;ERDA4;MGC57297;TNRC4 CAG repeat domain;CAG repeat protein 4;CELF-3;CUG-BP and ETR-3 like factor 3;CUG-BP- and ETR-3-like factor 3;CUGBP Elav-like family member 3;ELAV-type RNA-binding protein 1;ETR-1;OTTHUMP00000015266;OTTHUMP00000015267;OTTHUMP00000042873;RNA-binding protein BRUNOL-1;bruno-like protein 1;expanded repeat domain protein CAG/CTG 4;expanded repeat domain, CAG/CTG 4;trinucleotide repeat containing 4;trinucleotide repeat-containing gene 4 protein APPROVED protein-coding 11967 18210 612678 REVIEWED 68488 CELF2 CUGBP, Elav-like family member 2 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 p13 11087265 11418680 + 11047259 11378674 + 6480464 9887331;17474147;18325984;18292181;18258790;17383427;16920700;16713569;16344560;15894795;15358864;15342556;15146197;15033780;14973222;12535526;12477932;12110949;11577082;11414768;11158314;10893231;10524244;8889548;7869393;21439371;21444716;21379329;19913121;20628086;20677014;16385451;18951430;20379614;21832049;21822266;21890473;21906983;22505724;19738201;23000965;23251661 10659 B4DIB6;E9PC62;Q5VZZ6;Q9UL67 AA595891;ABBA01034694;ABBA01034695;ABBA01034696;ABBA01034697;ABBA01034698;ABBA01034699;AC026887;AF036956;AF090693;AF090694;AF295068;AF432906;AK293164;AK295511;AK297313;AK297380;AK299548;AK299983;AK299992;AK302681;AK304216;AK310038;AK314087;AK316354;AL136320;AL136369;AL138769;AL157704;AL162408;AMYH01002023;AMYH01002024;AMYH01002025;AMYH01002026;AW965523;BC036391;BC050635;BE275530;BI914655;BM699598;BP229421;BP362205;BQ213648;BU173199;CD556770;CH471072;CN356737;CR936676;CR976278;DA310511;DA819821;DB478862;NM_001025076;NM_001025077;NM_001083591;NM_006561;U69546 AAB09040;AAD02074;AAD13760;AAD13761;AAH36391;AAK72223;AAK72224;AAK92699;AAL27627;BAG36783;BAG56708;BAG58428;BAG59778;BAG59822;BAG61493;BAG61804;BAG61812;BAG63913;BAG65088;BAH14725;EAW86346;EAW86347;EAW86348;EAW86349;EAW86350;NP_001020247;NP_001020248;NP_001077060;NP_006552;O95319 Hs.309288 1336469;1643648;1647115;1652265;1653605;1664202;1664907;1670970;1680134;1684130;1691240;1709074;1709818;1713505;1715023;1720209;1720977;1722735;1736078;1736104;1736106;1736132;1740061;1766299;1773367;1775470;1777377;1795644;1851127;1852983;2111043;2116190;2117542;2118465;2125190;2137553;2141628;2142330;2145102;2151046;2153934;2154355;2159538;2160443;2161048;2162914;2168192;2173226;2186519;2191635;5019627 A002V11;A005P23;A007B27;A008W11;CUGBP2_432;D10S1352E;D10S1362E;D10S1364E;D10S1380E;D10S1381E;D10S1394E;D10S1472;D10S1590;D10S1632;D10S2190;D10S2196;D10S2420;D10S482E;D10S585;D3S3971;G28306;G29152;G30971;G31093;G32254;G59318;G60305;MARC_31617-31618:1045770322:1;RH120236;RH120848;RH124018;RH15716;RH28458;RH44260;RH44350;RH66173;RH68770;RH69457;RH98321;RH99105;SGC30618;SHGC-149650;SHGC-31314;SHGC-32335;SHGC-84726;SHGC-85686;T16060;WI-10702;WI-14789;WI-19359;WIAF-1511 BRUNOL3;CUGBP2;ETR-3;ETR3;NAPOR CELF-2;CUG triplet repeat RNA-binding protein 2;CUG triplet repeat, RNA binding protein 2;CUG-BP- and ETR-3-like factor 2;CUG-BP2;CUGBP Elav-like family member 2;ELAV-type RNA-binding protein 3;OTTHUMP00000019076;OTTHUMP00000019077;OTTHUMP00000019078;RNA-binding protein BRUNOL-3;bruno-like protein 3;cug triplet repeat,rna-binding protein 2;hNAPOR;neuroblastoma apoptosis-related RNA-binding protein APPROVED protein-coding ENSG00000048740 2550 03964 602538 REVIEWED 1345217 CELF5 CUGBP, Elav-like family member 5 This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 19 p13 3161110 3233889 + 3175701 3248074 + 3224701 3297074 + 1580863;6480464 12477932;11158314;10893231;20889312;19757395;21139048 60680 B4DFI3;K7ES14;Q8N6W0 AA448420;AB209067;ABBA01002806;ABBA01002807;ABBA01002808;ABBA01002809;ABBA01002810;AC005331;AC006505;AC010649;AC123911;AF248649;AF329266;AK294109;AL390161;AL832550;AMYH01009302;AMYH01009303;AMYH01009304;AMYH01009305;BC028101;BC047522;CH471139;NM_001172673;NM_021938;NR_033342 AAC27666;AAF86231;AAH28101;AAK07476;ABM82574;ABM85763;BAD92304;BAG57444;EAW69327;EAW69328;NP_001166144;NP_068757;Q8N6W0 Hs.655747 1342277;1759401;1770411;5019749 A009O27;D19S424;G32708;SHGC-2315 BRUNOL-5;BRUNOL5;CELF-5 CELF-5;CUG-BP and ETR-3 like factor 5;CUG-BP- and ETR-3-like factor 5;CUGBP Elav-like family member 5;RNA-binding protein BRUNOL-5;bruno-like 5 RNA binding protein;bruno-like protein 5 APPROVED protein-coding ENSG00000161082 14058 12535 612680 REVIEWED 1317078 CELF1 CUGBP, Elav-like family member 1 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 p11 47446521 47531264 - 47487489 47574792 - 1580863;6480464 10893231;14726956;8948631;19106619;19047369;18570922;18243120;18164289;18039683;17936705;17854664;17531403;16946708;16601207;16169070;15756469;15489334;15099703;15082764;14759258;14702039;12799066;12477932;11686919;11564876;11158314;11124939;10536163;10446244;9371827;8912635;8789448;14657503;15546872;22646166;20547756;16341674;16344560;19553194;19615732;20051426;20227387;20603324;20935630;20947024;22982313;21832049;21637851;21508681;19322201;22117072;19471022;21139048;21906983;21890473;21963094;22355723;22365833;23000965;23155001;22053931;22505724 10658 E9PKA1;E9PKU1;E9PQK4;E9PSH0;F5H0D8;F5H3J7;F5H4Y5;F5H7M7;G5EA30;Q92879 AB210019;ABBA01060703;ABBA01060704;ABBA01060705;ABBA01060706;ABBA01060707;ABBA01060708;ABBA01060709;ABBA01060710;AC090559;AF248648;AF267533;AF267534;AJ007988;AK054655;AK056024;AK057016;AK304430;AK307679;AMYH01003542;AMYH01003543;AMYH01003544;BC031079;BC036782;BM737883;CB960956;CH471064;DA217269;DA320861;DB162286;NM_001025596;NM_001172639;NM_001172640;NM_006560;NM_198700;U63289 AAC50895;AAF78955;AAF78956;AAF86230;AAH31079;ABM84643;BAE06101;BAG65257;CAC20566;EAW67906;EAW67907;EAW67908;EAW67909;EAW67910;EAW67911;EAW67912;NP_001020767;NP_001166110;NP_001166111;NP_006551;NP_941989;Q92879 Hs.595333 1646797;1660921;1664044;1673836;1676478;1677873;1712573;1768924;1797448;1856805;2137575;2147874;2155506;5019669;5491423 A009C12;CUGBP1_2383;G17556;G32410;MARC_11599-11600:1002739035:1;RH25600;RH36605;RH46584;RH66384;RH69518;SHGC-31447;SHGC-56849;STS-H11078;STS-N31747;X61451 BRUNOL2;CUG-BP;CUGBP;CUGBP1;EDEN-BP;NAB50;NAPOR;hNab50 50 kDa nuclear polyadenylated RNA-binding protein;CELF-1;CUG RNA-binding protein;CUG triplet repeat RNA-binding protein 1;CUG triplet repeat, RNA binding protein 1;CUG triplet repeat, RNA-binding protein 1;CUG-BP- and ETR-3-like factor 1;CUG-BP1;CUGBP Elav-like family member 1;EDEN-BP homolog;OTTHUMP00000233203;OTTHUMP00000233204;OTTHUMP00000233205;OTTHUMP00000238034;OTTHUMP00000238035;OTTHUMP00000238036;RNA-binding protein BRUNOL-2;bruno-like 2;bruno-like protein 2;deadenylation factor CUG-BP;embryo deadenylation element binding protein;embryo deadenylation element-binding protein homolog;nuclear polyadenylated RNA-binding protein, 50-kD APPROVED protein-coding ENSG00000149187 2549 03046 601074 REVIEWED 1316936 CELF4 CUGBP, Elav-like family member 4 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q12 31632904 31980932 - 33077828 33399941 - 34823003 35146000 - 1580863;6480464 10893231;11158314;19240061;18521091;17672918;15894795;14973222;14702039;12477932;12107411;11984006;8889548;15009664;19359265;19911421;20379614;21832049;18029348;19720736 56853 B4DHA8;K7EJ26;K7EJD7;K7EJK3;K7EJW4;K7ENR2;K7EPX2;K7EQ97;K7ERH1;M0QY66;M0R137;Q9BZC1 AA669357;AB209774;ABBA01022418;ABBA01022419;ABBA01022420;ABBA01022421;ABBA01022422;ABBA01022423;AC015961;AC090386;AC093332;AC129908;AF141345;AF248650;AF248651;AF329265;AK074596;AK091694;AK126716;AK295009;AMYH01008940;AMYH01008941;BC001946;BC004167;BC045711;BC127795;BF592968;BM671360;BM718619;BQ637723;CH471088;NM_001025087;NM_001025088;NM_001025089;NM_020180 AAF86232;AAF86233;AAG49448;AAH01946;AAH04167;AAH45711;AAI27796;AAK07475;BAC11082;BAD93011;BAG58069;EAX01394;EAX01395;EAX01396;EAX01397;NP_001020258;NP_001020259;NP_001020260;NP_064565;Q9BZC1 Hs.435976;Hs.600908 1334562;1337916;1654717;1668108;1683331;1688879;1705510;1710070;1753907;1762493;1764235;1764497;1779298;2177858 D18S1070;D18S1100;D18S1102;D18S545;RH26837;RH36047;SHGC-108130;SHGC-146311;SHGC-147862;SHGC-148103;SHGC-153294;SHGC-32122;SHGC-82315;SHGC-83850 BRUNOL-4;BRUNOL4 Bruno -like 4, RNA binding protein;CELF-4;CUG-BP and ETR-3 like factor 4;CUG-BP- and ETR-3-like factor 4;CUGBP Elav-like family member 4;LYST-interacting protein LIP9;RNA-binding protein BRUNOL-4;RNA-binding protein BRUNOL4;bruno-like 4, RNA binding protein;bruno-like protein 4 APPROVED protein-coding ENSG00000101489 14015 12534 612679 REVIEWED 5687427 CEND1P1 cell cycle exit and neuronal differentiation 1 pseudogene 1 14 q32 104917143 104918171 + 16181419 122631 ABBA01003001;AMYH01006061;BX927359;NG_005601 pseudo 43674 INFERRED 5687426 CEND1P2 cell cycle exit and neuronal differentiation 1 pseudogene 2 13 q12.12 24897096 24898002 - 16181419 724034 ABBA01007889;AL359736;AMYH01004973;NG_005600 pseudo 43675 INFERRED 733345 CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008] 1 1 p21 109594164 109619901 + 109792641 109818378 + 68762;1580863;6480464 9693030 18179892;10716726;10907856;17474147;19487539;19299407;19198609;19060911;19060910;19060906;18649068;18262040;18193044;18193043;14702039;10380929;9039502;20570916;20571754;20628086;20679960;16169070;19913121;20031591;20167577;20370913;20442857;20691829;20738937;20864672;20971364;21087763;20339536;20686565;21347282;21378988;21875946;21906983;21909109;21943158;22003152;21963094;23118302 1952 Q6ZSX5;Q9HCU4 AB065955;ABBA01068376;ABBA01068377;AF234887;AK124727;AK127086;AK127745;AK309093;AL390252;AMYH01000930;CH471122;D87469;NM_001408 AAG00080;BAA13407;BAC06168;BAC86821;BAC87111;EAW56372;NP_001399;Q9HCU4 Hs.57652 1683745;1760187;2118984;2125275;2148165;2160526;2218366;5491765 CELSR2;CELSR2_4552;G16013;RH78101;RH80782;SHGC-132473;SHGC-32538;SHGC-57403 CDHF10;EGFL2;FLJ34118;FLJ42737;FLJ45143;FLJ45845;Flamingo1;KIAA0279;MEGF3 EGF-like protein 2;EGF-like-domain, multiple 2;OTTHUMP00000013794;cadherin EGF LAG seven-pass G-type receptor 2;cadherin family member 10;cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila);epidermal growth factor-like 2;epidermal growth factor-like protein 2;flamingo homolog 3;multiple EGF-like domains protein 3;multiple epidermal growth factor-like domains 3;multiple epidermal growth factor-like domains protein 3 APPROVED protein-coding ENSG00000143126 3231 05040 604265 REVIEWED 1321359 CELF6 CUGBP, Elav-like family member 6 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 15 15 15 q24 49463203 49498641 - 70364123 70399579 - 72577068 72612525 - 1580863;6480464 14761971;12477932;12107410;10893231;8889548;23407934 60677 B3KWE6;F6UBL3;Q96J87 ABBA01038730;ABBA01038731;ABBA01038732;ABBA01038733;AC009690;AF401233;AF425606;AK124858;AK131098;AK294382;AK296004;AMYH01006761;AMYH01006762;BC030835;BC033838;BM681937;BM930660;BU732838;CA393931;CH471082;DC368992;NM_001172684;NM_001172685;NM_052840 AAH30835;AAH33838;AAK95615;AAL34513;BAC85148;BAG54108;BAG57639;BAG58778;EAW77900;EAW77901;NP_001166155;NP_001166156;NP_443072;Q96J87 Hs.348342 1691070;2134385;2150740 RH48983;RH69326;RH77785 BRUNOL6 Bruno -like 6, RNA binding protein;CELF-6;CUG-BP and ETR-3 like factor 6;CUG-BP- and ETR-3-like factor 6;CUGBP Elav-like family member 6;OTTHUMP00000164646;RNA-binding protein BRUNOL-6;bruno-like 6, RNA binding protein;bruno-like protein 6 APPROVED protein-coding ENSG00000140488 14059 10691 612681 REVIEWED 1354258 CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008] 22 22 22 q13.3 30664148 30840512 - 45135395 45311731 - 46756731 46933067 - 1580863;2293492;6480464 17226800 9339365;10716726;19403135;15489334;12782967;12477932;11807409;11086974;10835267;10591208;10380929;16169070;16009131;19851296;20198315;20379614;20223754;21875946;22371354;21511255;22095531;20467438 9620 C9JDM9;H0Y7R9;Q9NYQ6 ABBA01010445;ABBA01010446;ABBA01010447;ABBA01010448;ABBA01010449;ABBA01010450;ABBA01010451;ABBA01010452;ABBA01010453;ABBA01010454;AF231024;AK302517;AL021392;AL031588;AL031597;AL831846;AMYH01012858;BC000059;BC013631;CH471138;NG_030466;NM_014246 AAF61930;AAH00059;BAH13733;CAD38552;EAW73428;EAW73429;NP_055061;Q9NYQ6 Hs.252387 1677496;1691096;1747487;1772483;2155066;2218364 AL031648;CELSR1_4551;G65456;RH8140;RH93715;SHGC-33921 CDHF9;DKFZp434P0729;FMI2;HFMI2;ME2 OTTHUMP00000197327;cadherin EGF LAG seven-pass G-type receptor 1;cadherin family member 9;cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila);flamingo homolog 2;protocadherin flamingo 2 APPROVED protein-coding ENSG00000075275 1850 05160 604523 REVIEWED 1605138 CEMP1 cementum protein 1 16 16 16 p13.3 2794972 2808983 - 2520037 2521410 - 2580036 2581409 - 17509525;16263347;8889548;12477932;19393626;21465469;22349547;22797925 752014 H3BPU9;Q6PRD7 ABBA01030250;AC093525;AMYH01007059;AY584596;BC146925;BC146926;BM681118;NM_001048212 AAI46926;AAI46927;AAI52784;AAI56603;AAT01221;NP_001041677;Q6PRD7 Hs.737156;Hs.743305 1740955;1854241 GDB:176413;SHGC-61364 CP-23;CP23 cementoblastoma-derived protein 1;cementum protein 23;cementum protein-23 protein-coding ENSG00000205923 32553 611113 VALIDATED 1350876 CENPCP1 centromere protein C pseudogene 1 12 12 12 q21.33 89565358 89568532 + 88417744 88421081 + 89893685 89896859 + 6480464 12490152;8406460;7959789 1061 ABBA01053418;ABBA01053419;AC010201;AMYH01004648;NG_003044 CENPC;CENPC2 centromere protein c2, 140kda APPROVED pseudo 1855 INFERRED 1342685 CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013] 3 3 3 p21.31 48629806 48656257 - 48648900 48675352 - 48673896 48700348 - 68762;1580863;6480464 9693030 15203201;17474147;12477932;12421765;10790539;10716726;10380929;8889548;16169070;21875946;16273260;17618280;20416094 1951 Q9NYQ7 AA411204;AB011536;ABBA01024642;AC005923;AC121252;AF231023;AK299868;AMYH01013152;BC111703;BC111746;BU738328;CH471055;NM_001407 AAF61929;BAA32464;BAG61721;EAW64914;NP_001398;Q9NYQ7 Hs.631926 2218368 CELSR3_4553 CDHF11;EGFL1;FMI1;HFMI1;MEGF2;RESDA1 EGF-like protein 1;EGF-like-domain, multiple 1;OTTHUMP00000164826;anchor protein;cadherin EGF LAG seven-pass G-type receptor 3;cadherin family member 11;cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila);epidermal growth factor-like 1;epidermal growth factor-like protein 1;flamingo homolog 1;multiple EGF-like domains 2;multiple EGF-like domains protein 2;multiple epidermal growth factor-like domains protein 2 APPROVED protein-coding ENSG00000008300 3230 09179 604264 REVIEWED 1605600 CENPBD1 CENPB DNA-binding domains containing 1 16 16 16 q24.3 75101744 75104485 - 88563702 88566443 - 90036183 90039240 - 6480464 15231747;14702039;12477932;14667819;12136098 92806 B2RD01 ABBA01014119;AC092143;AI039958;AJ330130;AJ335427;AK056131;AK074351;AK315352;AMYH01007941;AW136311;BC005105;BC009263;BC040698;CD518450;NM_145039 B2RD01;BAG37748;NP_659476 Hs.513832;Hs.733302 1677086;5015619;5024756 D11S3114;RH80030;RH92795 FLJ23771;FLJ31569;MGC13198;MGC16385 CENPB DNA-binding domain-containing protein 1;CENPB DNA-binding domains containing 1 protein-coding ENSG00000177946 28272 08321 VALIDATED 1602711 CEND1 cell cycle exit and neuronal differentiation 1 The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 853614 856673 - 777110 780126 - 787110 790126 - 6480464 16713569;16344560;16181419;15489334;14702039;12477932;11311134;20029029;18499894 51286 Q8N111 ABBA01015210;AF235030;AK074547;AK312993;AMYH01003295;AP006621;AY304478;BC034732;CH471158;CQ782498;DA066200;NM_016564 AAF60309;AAH34732;AAP57306;BAC11051;BAG35830;CAF85783;EAX02384;NP_057648;Q8N111 Hs.22140 1697074;1768563 RH102018;RH12688 BM88;FLJ90066;MGC34326 BM88 antigen;OTTHUMP00000164431;cell cycle exit and neuronal differentiation protein 1 APPROVED protein-coding ENSG00000184524 24153 16300 608213 REVIEWED 5128968 CENPIP1 centromere protein I pseudogene 1 13 13 762517 767680 + 19700617 19705780 + 100419337 ABBA01068549;AL137001;AL139327;AMYH01004934;NG_024888 1748417 G64219 pseudo 39575 INFERRED 1312443 CENPB centromere protein B, 80kDa This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008] 20 20 p13 3712498 3715337 - 3764498 3767337 - 1580863;6480464 16713569;16565220;16183641;15635413;15634350;15489334;15009096;14612452;14522975;12477932;12217960;12011073;11884609;11812799;11780052;9451007;8406460;8198697;7896278;7862152;2435739;2335558;1740467;1469042;1893793;18072184;17968937;17258208;11084331;11682612;19412974;19615732;19714638;19723035;20222802;21832049;22467948;21252943;21693764;21890473;21900206;19471022;16622419;22505724 1059 P07199;Q96EI4 ABBA01053831;AF002713;AF002714;AL109804;AMYH01011679;BC003649;BC012297;BC021577;BC033658;BC040446;BC053847;CH471133;NM_001810;X05299;X55039 AAB70165;AAB70166;AAH12297;AAH53847;CAA28918;CAA38879;EAX10502;NP_001801;P07199 Hs.516855;Hs.713340 2129758;2146020;2219778 Bdyc4e10;CENPB_4555;RH78109 CENP-B;OTTHUMP00000030132;centromere autoantigen B;major centromere autoantigen B APPROVED protein-coding ENSG00000125817 1852 00314 117140 REVIEWED 1349480 CENPA centromere protein A Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. CENPA encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. CENPA is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 p23.3 26862386 26870961 + 27008882 27017457 + 1580863;6480464 22473132;7962047;19410545;11084331;19543270;19412974;18072184;18007590;17651496;17474147;17388661;17339380;17244537;17199038;17081983;16622420;16622419;15815621;15702419;15489334;15475964;15282608;15085137;15009096;12477932;12217960;12019018;12011073;11884609;11756469;11053442;10759786;9605877;9475158;9024683;2023923;14667408;12839935;20739937;11682612;18195732;19410544;19468067;19625449;19717431;20003272;20080577;20160010;20331851;21059934;17207965;20593489;20630806;20206496;20566683;22467948;21743476;20650959;21478274;21068465;21399697;21423629;22127263;23184928;23657009;21768289;21980305;22406139;21454580;20663916;21956590;21826412;22817894;22559056;21875947;22542705 1058 F8WD88;P49450 ABBA01045188;AC011740;AMYH01010194;BC000881;BC002703;BC011013;BT007246;CH471053;NM_001042426;NM_001809;U14518;U82609 AAA57416;AAB47505;AAH00881;AAH02703;AAP35910;AAX93267;ADQ33220;ADZ15788;EAX00669;EAX00670;EAX00671;EAX00672;NP_001035891;NP_001800;P49450 Hs.1594 1857416 D2S2602 CENP-A;CenH3 OTTHUMP00000122589;OTTHUMP00000214068;centromere autoantigen A;centromere protein A, 17kDa;centromere-specific histone;histone H3-like centromeric protein A APPROVED protein-coding ENSG00000115163 1851 00313 117139 REVIEWED 1316119 CENPE centromere protein E, 312kDa Centrosome-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible for mammalian chromosome movement and/or spindle elongation. [provided by RefSeq, Jul 2008] 4 4 q24-q25 104246412 104339015 - 104026963 104119566 - 1580863;6480464 14684825;9763420;7889940;1406971;2022189;9363944;12925705;19525938;18460473;18374647;17535814;17268814;17081983;16926026;16565220;16144904;15297875;15236970;15181147;15159587;15146197;12686615;11337467;11084331;10852915;10477750;9744883;22637578;22801780;9391217;7851898;11682612;16682006;19465021;19553660;19625775;19723035;19733075;20021663;20332099;20354862;20691903;18342609;22974711;23314748;19779646;20237434;16196087;18029348;22307330;12938929;17370265;20360068;21139048;22110139;21628590;9914370;23236152 1062 D6RBW0;D6RHK2;Q02224 AA210728;AA210858;AB209996;ABBA01063707;ABBA01063708;ABBA01063709;ABBA01063710;AC079919;AK290362;AL596934;AMYH01014434;AU100312;AW499901;AY429526;BQ231878;BQ434767;BQ447425;CD644410;CH471057;CN418651;HI573938;NM_001813;Z15005 AAI56502;BAE06078;BAF83051;CAA78727;CBX47458;EAX06169;EAX06170;EAX06171;NP_001804;Q02224 Hs.75573 1647993;1671699;1720251;1770780;1774095;2134128;2142855;2151039 D4S2810;RH123874;SHGC-10601;SHGC-23104;SHGC-23114;SHGC-50720;STS-H95785;STS-Z15005 CENP-E;KIF10;PPP1R61 CENP-E;Centromere autoantigen E (312kD);OTTHUMP00000219480;centromere-associated protein E;kinesin family member 10;kinesin-related protein CENPE;protein phosphatase 1, regulatory subunit 61 APPROVED protein-coding ENSG00000138778 1856 00316 117143 VALIDATED 1352971 CENPF centromere protein F, 350/400kDa This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008] 1 1 q41 212843155 212904537 + 214776532 214837914 + 1580863;6480464 9891037;12974617;7642639;15677469;7651420;12154071;12507285;15927522;16252009;15870278;10373470;12467231;7542657;7904902;19008095;17600710;17205517;17081983;16964243;16601978;21145461;16565220;16456711;16219694;14720137;11549288;10852915;9950165;9763420;9497340;7851898;7612011;15654331;20015195;11084331;14968112;15494374;16672379;16730941;17363900;19102762;19723035;20053638;20213041;20398247;20828406;20660191;20978035;21659360;17043677;20811636;19850743;20360068;21987812;21613637;17620599;22586326;19471022;20309963;20972266;21139048;21890473;21906983;21628590;22939629;21963094;22912832;23000965;23097494 1063 P49454 ABBA01048143;AK307690;AL445305;AL445666;AMYH01001720;BG680819;BQ774943;BU155312;BU662228;CD654009;CH471100;HI574254;NM_016343;U19769;U25725;U30872 AAA82889;AAA82935;AAA86889;AAI72232;CBX47616;EAW93350;NP_057427;P49454 Hs.497741 1663871;1773844;2052320;2109127;2134389;2135192;2182484 CENPF_8250;D1S3278;REN97317;RH16564;RH47698;SHGC-33480;SHGC-36458 CENF;PRO1779;hcp-1 AH antigen;CENP-F kinetochore protein;OTTHUMP00000035028;cell-cycle-dependent 350K nuclear protein;centromere protein F;centromere protein F, 350/400kDa (mitosin);centromere protein F, 350/400ka (mitosin);kinetochore protein CENPF;mitosin APPROVED protein-coding ENSG00000117724 1857 02582 600236 REVIEWED 1354407 CENPC centromere protein C Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008] 4 4 q13.2 68020584 68093851 - 68337989 68411256 - 1580863;6480464 1339310;19328558;19010793;17651496;17623812;17287400;17081983;16716197;16622419;16565220;15272016;15009096;14612452;12490152;12477932;12006616;11925107;9645950;9261558;8941372;8702533;7959789;14578343;21353556;11682612;17643375;19482874;19503796;22540025;21988832;23000965;15717329;18624398;20360068;21139048;21693764;21890473;18029348 1060 H0Y8J2;H0Y9W1;Q03188;Q6PIR0 ABBA01022898;ABBA01022899;ABBA01022900;AC104806;AC109356;AF151723;AK307928;AK308170;AK308214;AK309437;AMYH01014246;AMYH01014247;BC030695;BC041117;BX648166;CD710556;CH471057;M95724;NM_001812 AAA51974;AAF73191;AAH30695;AAH41117;EAX05545;EAX05546;NP_001803;Q03188 Hs.479867 2130819;2171422 G41979;SHGC-67937 CENP-C;CENPC;MIF2;hcp-4 CENP-C 1;OTTHUMP00000218847;centromere autoantigen C;centromere autoantigen C1;centromere protein C 1;interphase centromere complex protein 7 APPROVED protein-coding ENSG00000145241 1854 00315 117141 REVIEWED 1312617 CENPH centromere protein H Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008] 5 5 p15.2 68521131 68541940 + 68485375 68506184 + 1580863;6480464 11092768;19232519;19170237;18700042;18045986;17651496;17255272;16875666;16716197;16622420;16622419;15930286;15713649;15502821;15489334;15009096;14536089;12477932;17353931;22682030;19500341;19625449;22999412;21139048;21454580;21890473;21906983;19322201;21875947;21880184;22505724;22631655 64946 B3KVZ3;D6RBJ6;H0Y9E6;Q9H3R5 AB035124;ABBA01048282;ABBA01048283;ABBA01048284;AC022107;AC093223;AK123761;AK290746;AMYH01015145;BC012024;BC015355;CH471137;CS300652;NM_022909 AAH12024;AAH15355;ABM85584;BAB18635;BAF83435;BAG53955;CAK32316;EAW51304;EAW51305;NP_075060;Q9H3R5 Hs.631967 NNF1;PMF1 CENP-H;OTTHUMP00000123477;OTTHUMP00000221978;OTTHUMP00000221979;centromere protein H;interphase centromere complex protein 35;kinetochore protein CENP-H APPROVED protein-coding ENSG00000153044 17268 12029 605607 REVIEWED 1605966 CENPK centromere protein K CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008] 5 5 5 q12.3 61812111 61857460 - 64849350 64894751 - 64813593 64858995 - 6480464 8950979;18045986;16716197;16622420;16622419;15489334;15009096;12477932;10996314;20211142;21139048;22505724 64105 D6R984;D6RAX0;D6RBN6;D6RC76;D6RHD3;D6RJF0;H0Y9K8;Q9BS16 ABBA01048329;ABBA01048330;AC008560;AC016620;AF315941;AMYH01015133;AY009151;BC005400;BC008504;BG502832;CH471137;NM_001267038;NM_022145 AAG31004;AAH05400;AAH08504;AAL26880;ABM83467;ABM86678;EAW51353;EAW51354;NP_001253967;NP_071428;Q9BS16 Hs.529778 1688817;1689029;1724441;1727533 G63024;RH122383;RH150;RH93623 AF5alpha;CENP-K;FKSG14;P33;Solt OTTHUMP00000161888;OTTHUMP00000222309;OTTHUMP00000222310;OTTHUMP00000222311;OTTHUMP00000222312;OTTHUMP00000222316;SoxLZ/Sox6-binding protein Solt;centromere protein K;interphase centromere complex protein 37;leucine zipper protein FKSG14;protein AF-5alpha APPROVED protein-coding ENSG00000123219 29479 13323 611502 VALIDATED 733555 CENPI centromere protein I The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. This gene is also a potential candidate for human X-linked disorders of gonadal development and gametogenesis. [provided by RefSeq, Jul 2008] X X X q22.1 100873565 100936744 + 100241454 100304634 + 100354798 100417978 + 1580863;6480464 8921378;18045986;16716197;16622420;16622419;16565220;15772651;15489334;15009096;12640463;12477932;7758824;1538749;21832049;21139048;21888900;21890473;19471022 2491 J3KMW4;Q5JX01;Q5JX02;Q92674 ABBA01044940;ABBA01044941;ABBA01044942;ABBA01044943;ABBA01044944;ABBA01044945;ABBA01044946;ABBA01044947;ABBA01044948;ABBA01044949;ABBA01044950;AK302986;AL109963;AMYH01022725;BC005967;BC012462;BG114761;BQ224168;CH471115;M78295;NG_012510;NM_006733;X97249 AAH12462;BAG64126;CAA65884;EAX02840;EAX02841;EAX02842;EAX02843;NP_006724;Q92674 Hs.348920;Hs.737663 1337154;1701778;5109281;7187269 D1S1425;D6S1615;DXS1257 CENP-I;FSHPRH1;LRPR1;Mis6 FSH primary response 1;FSH primary response protein 1;OTTHUMP00000023668;OTTHUMP00000023671;centromere protein I;follicle-stimulating hormone primary response protein;interphase centromere complex protein 19;leucine-rich primary response protein 1 APPROVED protein-coding 3968 02089 300065 REVIEWED 1316428 CENPM centromere protein M The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPM is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] 22 22 22 q13.2 26140977 26149371 - 40664687 40673094 - 42334741 42343148 - 6480464 16716197;16622420;16622419;16391015;15489334;15461802;15183305;15009096;14702039;12529303;12477932;10591208;19773279;21139048;23202124 79019 B1AHQ6;B1AHQ7;B1AHQ8;Q9NSP4 ABBA01055657;AK123479;AL160131;AMYH01012807;BC000705;BC007495;BE797487;BU556693;CH471095;CR456399;CR457392;EU035297;NM_001002876;NM_001110215;NM_024053;Z99716 AAH00705;AAH07495;ABS84666;BAC85624;CAB77147;CAG30285;CAG33673;EAW60474;EAW60475;EAW60476;NP_001002876;NP_001103685;NP_076958;Q9NSP4 Hs.208912 1686006;2117013;2118749;5024761 GDB:313501;RH36905;RH91321;SHGC-37658 C22orf18;CENP-M;MGC861;PANE1;bK250D10.2 OTTHUMP00000199658;OTTHUMP00000199660;OTTHUMP00000199661;OTTHUMP00000199662;OTTHUMP00000226075;centromere protein M;chromosome 22 open reading frame 18;interphase centromere complex protein 39;proliferation associated nuclear element 1;proliferation-associated nuclear element protein 1 APPROVED protein-coding ENSG00000100162 18352 12798 610152 VALIDATED 1605310 CENPL centromere protein L CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008] 1 1 1 q25.1 146878160 146903249 - 172035628 172060082 - 173768688 173793777 - 6480464 16716197;16710414;16622420;16622419;16344560;15489334;15009096;14702039;12477932;17207965;21139048;21890473;21906983;19322201 91687 Q8N0S6;Q96MW3 ABBA01027900;AK055606;AK056348;AL109921;AMYH01001504;BC007071;BC007923;BC019022;BC033154;BC066658;CH471067;DA173140;DA472686;DB244459;DN995099;NM_001127181;NM_001171182;NM_033319 AAH07071;AAH33154;AAH66658;ADQ32199;BAB70968;BAB71159;EAW90956;EAW90957;EAW90958;EAW90959;NP_001120653;NP_001164653;NP_201576;Q8N0S6 Hs.531856;Hs.720473 1652363;1656587;2158438;5020948;5022588 AL009891;D5S1597E;G35510;RH35920;SHGC-75912 C1orf155;CENP-L;FLJ31044;FLJ31786;RP3-383J4.1;dJ383J4.3 OTTHUMP00000032689;OTTHUMP00000032690;OTTHUMP00000032691;centromere protein L;interphase centromere complex protein 33 APPROVED protein-coding ENSG00000120334 17879 15909 611503 VALIDATED 1321379 CENPJ centromere protein J This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] 13 13 q12.12 24354412 24395085 - 25456412 25497027 - 1580863;6480464;7240710 20936779;11984006;15047868;11003675;19503075;19131341;18586240;18162190;16900296;16713569;16631324;16516142;16344560;16316625;15793586;15687488;15489334;15057823;14702039;12843329;12477932;12198240;11592063;8889548;20522431;11076968;12221128;12852856;16462731;17681131;19481458;19481460;19889632;20080800;7790358;20531387;21059844;22100914;21297427;20301772;22699936;23511974 55835 A8K8P1;H0Y5L8;Q5JPD5;Q9HC77 ABBA01007897;AF139625;AF141337;AF141343;AF217509;AJ303006;AK123551;AK292406;AL354798;AL833182;AMYH01004978;BC024209;BC092467;BC113110;BC113111;BC113662;BC113664;BC143757;BC143758;BU687310;CH471075;DB029167;DB062002;NG_009165;NM_018451;NR_047594;NR_047595 AAF67620;AAG21074;AAG49440;AAG49446;AAH24209;AAH92467;AAI13111;AAI13112;AAI13663;AAI13665;ADR83295;BAF85095;BAG53911;CAC80028;CAI46195;EAX08351;EAX08352;EAX08353;EAX08354;NP_060921;Q9HC77 Hs.513379;Hs.741581 1688492 RH92371 BM032;CENP-J;CPAP;LAP;LIP1;MCPH6;MGC131581;MGC131582;MGC142222;MGC142224;SASS4;SCKL4;Sas-4 CENP-J;LAG-3-associated protein;LYST-interacting protein 1;LYST-interacting protein LIP1;LYST-interacting protein LIP7;OTTHUMP00000018137;centromere protein J;centrosomal P4.1-associated protein APPROVED protein-coding ENSG00000151849 17272 09876 608393;609279;613676 REVIEWED 3302684 CENPVP1 centromere protein V pseudogene 1 X X X p11.22 56276005 56277307 - 51470348 51471967 + 51453925 51455227 + 389857 Q3ZM64 ABBA01059977;AC234030;AL929101;AY730278;NR_033772 AAW56972 Hs.730388 2115690 WI-13835 CENPVL1;PRR6L1 APPROVED pseudo ENSG00000223591 31851 VALIDATED 1603636 CENPN centromere protein N The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 16 16 16 q23.2 65338504 65365102 + 79597604 79624213 + 81040103 81066712 + 6480464 22426531;19543270;17081983;16716197;16622420;16622419;15489334;15009096;14702039;12477932;21139048;21890473;21906983;22100916 55839 E7ETS3;H3BMC7;H3BMD5;H3BRU7 ABBA01016986;AC092718;AF217515;AK023669;AK026313;AK296024;AK298554;AMYH01007847;AW085187;BC007334;BC008972;BC039021;BQ013821;CH471114;HY167728;HY363272;HY374758;NM_001100624;NM_001100625;NM_001270473;NM_001270474;NM_018455 AAF67626;AAH07334;AAH08972;BAG51215;BAG58793;BAG60749;EAW95553;EAW95554;EAW95555;EAW95556;NP_001094094;NP_001094095;NP_001257402;NP_001257403;NP_060925;Q96H22 Hs.726537 1690990;1730505;5020274;5022578;5022623;5037552;7184806 D11S2687;D1S1423;D3S587;D8S2279;L18441;RH99185 BM039;C16orf60;CENP-N;FLJ13607;FLJ22660;ICEN32 OTTHUMP00000174973;OTTHUMP00000174974;OTTHUMP00000174975;centromere protein N;interphase centromere complex protein 32 APPROVED protein-coding ENSG00000166451 30873 12528 611509 REVIEWED 6482617 CENPVP2 centromere protein V pseudogene 2 X p11.22 51424145 51425447 - 441495 AC234030;AL662886;AMYH01023758;BE466872;NR_033773 Hs.187774 2115690 WI-13835 pseudo 43879 VALIDATED 6482621 CENPVP3 centromere protein V pseudogene 3 X p11.22 51360949 51361725 - 347549 ABBA01059985;AC234030;AL390060;AMYH01022336;NG_022598 pseudo 43880 INFERRED 1351678 CENPV centromere protein V 17 17 17 p11.2 16148781 16159756 - 16186573 16197537 - 16245848 16256812 - 737633;1580863;6480464 12477932 18772885;12196509;15489334;19930468;17000644;18029348;21139048;22959728 201161 K7ERN6;Q7Z7K6 ABBA01035655;ABBA01035656;AC005971;AF514992;AMYH01008147;AY382899;BC052604;BC137486;BC137487;BQ052702;BU618545;CH471222;NM_181716 AAH52604;AAI37487;AAI37488;AAM76703;AAR24368;EAX04499;EAX04500;NP_859067;Q7Z7K6 Hs.433422 2148716;2149089;2149091 G20572;RH16154;STS-G20572 3110013H01Rik;CENP-V;PRR6;p30 OTTHUMP00000065642;centromere protein V;nuclear protein p30;proline rich 6;proline-rich protein 6 protein-coding ENSG00000166582 29920 608139 VALIDATED 1603956 CENPO centromere protein O This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 2 2 2 p23.3 24856666 24883102 + 24869841 24896288 + 25016175 25045245 + 6480464 14702039;19286853;16716197;16622420;16622419;16189514;15815621;15489334;15009096;12477932;16932742;18007590;19204145;15342556;16344560;19447967;20379614;17207965;16751776;23028590;22623531;21139048;21980299 79172 Q53SX2;Q9BU64 ABBA01045122;AC012073;AC013459;AK027859;AK315483;AL514456;AMYH01010174;BC002870;BP366489;BX110829;CH471053;DA001951;DQ572275;NM_001199803;NM_024322 AAH02870;AAX93185;AAY14786;ADQ31911;BAB55414;BAG37867;EAX00742;EAX00743;EAX00744;NP_001186732;NP_077298;Q9BU64 Hs.731569 1648033;1651143;1660957;1688118;1795316;1797268;1847858;2145529;5092800 A006F11;ADCY3_1034;ADCY3_2051;D5S2617;G32338;RH36332;RH80427;WI-11275;WI-13582 CENP-O;ICEN-36;MCM21R;MGC11266 OTTHUMP00000155185;OTTHUMP00000200877;centromere protein O;centromeric protein O;interphase centromere complex protein 36 APPROVED protein-coding ENSG00000138092 28152 14414 611504 REVIEWED 1350206 CENPW centromere protein W 6 6 6 q22.32 127403569 127412070 + 126702963 126711441 + 126661253 126669754 + 6480464 18391951;17610844;12477932;22131368;20075984;19070575;19266077;19430480;19533040;20546612;20648695;20180024;21102462;20846217;21695110;22002061;22504418;20881960 387103 Q5EE01 ABBA01025943;AC020559;AL832235;AMYH01016650;AX972753;AY902475;BC017928;BC039556;BC046178;BC062798;CH471051;NM_001012507 AAH17928;AAH39556;AAH46178;AAH62798;AAW82474;CAF17861;EAW48119;EAW48120;EAW48121;EAW48122;EAW48123;NP_001012525;Q5EE01 Hs.486401 C6orf173;CUG2;DKFZp686L1553 CENP-W;OTTHUMP00000017157;OTTHUMP00000017158;OTTHUMP00000017159;cancer-up-regulated gene 2 protein;cancer-upregulated gene 2;centromere protein W APPROVED protein-coding ENSG00000203760 21488 16660 611264 VALIDATED 1603809 CENPP centromere protein P CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008] 9 9 9 q22.31 65524050 65819504 + 94127562 94417267 + 95087741 95377446 + 6480464 16622420;16622419;15489334;15164053;14702039;12477932;19913121;20628086;20379614;17207965;21139048;21454580;21890473;23028590 401541 B3KRA5;Q6IPU0;Q7Z672 ABBA01018584;ABBA01018585;ABBA01018586;ABBA01018587;ABBA01018588;ABBA01018589;ABBA01018590;ABBA01018591;AK091247;AK092603;AK307262;AK307435;AL136097;AL137848;AL157827;AL833701;AMYH01021508;AMYH01021509;AMYH01021510;BC071726;BX537851;CS063592;NM_001012267 AAH71726;ADQ31992;BAG52317;BAG52579;CAD97859;CAI84531;NP_001012267;Q6IPU0 Hs.713775 1646952;1657427;1664140;1670882;1671432;1689025;1723923;1728115;1750187;1752083;1755941;1773086;1849331;1850144;1850601;1854718;2106549;2108327;2109071;2117773;2140046;2159005;2180310;2187282 ASPN_9828;D9S2071;D9S2074;G63329;OGN_8519;OMD__6110;RH119473;RH16376;RH36006;RH36468;RH47432;RH65517;RH68398;RH69754;RH80964;SHGC-106025;SHGC-112287;SHGC-142765;SHGC-34584;SHGC-35056;STS-H75800;STS-N30894;WI-11467;WI-14229 CENP-P;FLJ33928;RP11-19J3.3 OTTHUMP00000021661;centromere protein P APPROVED protein-coding 32933 17989 611505 VALIDATED 1604795 CENPT centromere protein T The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] 16 16 16 q22.1 52370476 52389773 - 66419561 66438862 - 67862060 67881361 - 6480464 19070575;16716197;16622420;16622419;16565220;15489334;15009096;14702039;12477932;8125298;16169070;19412974;21695110;21832049;23334297;21454580;22561346;19533040 80152 B3KPB2;B4DMP9;H3BMP6;H3BN05;H3BQ71;H3BQJ0;H3BQS6;H3BTR4;H3BTS2;H3BUW2;I3L4F8;Q96BT3 ABBA01025460;ABBA01025461;ABBA01025462;AC040162;AK023173;AK055237;AK056097;AK125366;AK225399;AK291527;AK297570;AK300887;AK301621;AMYH01007753;AMYH01007754;BC007642;BC007864;BC015202;BC042204;BX648617;CD242240;CH471092;NM_025082 AAH07642;AAH07864;AAH15202;BAB14445;BAB70884;BAF84216;BAG51624;BAG59961;BAG62529;BAG63106;EAW83178;EAW83179;NP_079358;Q96BT3 Hs.288382 1732309;1847429;1847431;1852041;1854980;2133460;2156834 A006C32;D16S2576E;D16S667E;G11818;G20704;RH78543;SHGC-61118 C16orf56;CENP-T;FLJ13111;FLJ43376 centromere protein T;interphase centromere complex protein 22 APPROVED protein-coding ENSG00000102901 25787 611510 VALIDATED 1344338 CENPQ centromere protein Q CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008] 6 6 6 p12.3 50987302 51017018 + 49539055 49568779 + 49431096 49460820 + 6480464 16622419;16622420;21454580;21832049;15489334;14702039;14574404;12477932;21139048;21890473;19060904;23028590 55166 Q7L2Z9 AA460110;AA811376;ABBA01050591;ABBA01050592;AI039464;AK001407;AK293016;AL590244;AL590668;AMYH01016339;BC016279;BI768787;CH471081;NM_018132 AAH16279;BAA91672;BAF85705;EAX04332;EAX04333;NP_060602;Q7L2Z9 Hs.88663 1711328 SHGC-84918 C6orf139;CENP-Q;FLJ10545 OTTHUMP00000016579;centromere protein Q;chromosome 6 open reading frame 139 APPROVED protein-coding ENSG00000031691 21347 10788 611506 VALIDATED 1605416 CEP104 centrosomal protein 104kDa 1 1 1 p36.32 2982705 3023114 - 3721204 3763657 - 3728645 3773797 - 6480464 16710414;16344560;15489334;12477932;9628581;7488117;21399614 9731 H7C0J5;J3QLL3;O60308;Q5SR26;Q5SR27 AB011134;ABBA01073650;ABBA01073651;AK302190;AK308191;AL365330;AL691523;AMYH01000192;BC001640;BC026020;BC047450;BC050721;BM052650;CH471130;DA081362;DA482423;DA652315;NM_014704 AAH01640;AAH47450;AAH50721;BAA25488;BAH13645;EAW71481;EAW71482;EAW71483;EAW71484;NP_055519;O60308 Hs.133089;Hs.509017 1648262;1674440;5015959;5016478;5016596;5022463;5037552;5113220;5117897 D10S2448;D3S1673;D8S2279;GDB:434012;GDB:631802;GDB:631813;RH65640;SHGC-57243;SHGC-74088 GlyBP;KIAA0562;RP1-286D6.4 OTTHUMP00000003590;centrosomal protein of 104 kDa;glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein APPROVED protein-coding ENSG00000116198 24866 11091 VALIDATED 7205518 CEP164P1 centrosomal protein 164kDa pseudogene 1 10 q11.21 45566212 45566657 - 100289237 ABBA01050024;AL358394;AMYH01002298;NG_032712 pseudo 44988 INFERRED 1350849 CEP135 centrosomal protein 135kDa This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012] 4 4 4 q12 54321484 54405978 + 56509794 56594284 + 56814974 56899529 + 737633;6480464 12477932 17353931;17081983;15231748;14702039;14654843;9734811;8889548;11076968;12221128;12852856;16462731;17681131;18851962;7790358;23511974;22939629;21139048;21906983;20360068;22521416;21282530;20301772 9662 Q66GS9 AB014535;ABBA01003418;AC092627;AC110611;AC118280;AK023683;AK309554;AMYH01014194;BC012003;BC136535;BC136536;BF448516;BK005586;BU734129;CA438857;DA944890;NG_032806;NM_025009 AAH12003;AAI36536;AAI36537;BAA31610;DAA05590;NP_079285;Q66GS9 Hs.518767 2185392;5017266;5022200;5022450;5037552 D10S275;D8S2279;L18426;L18506;SHGC-67792 CEP4;KIAA0635;MCPH8 OTTHUMP00000218886;centrosomal protein 4;centrosomal protein of 135 kDa;centrosome protein cep135 APPROVED protein-coding ENSG00000174799 29086 09954;11097 611423;614673 REVIEWED 1604510 CEP112 centrosomal protein 112kDa This gene encodes a protein with filament, myosin tail and ATPase domains. Orthologs of this gene exist in mouse, rat and chimp. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 17 17 17 q24.1 60201968 60760023 - 61062120 61618435 - 63631658 64188212 - 6480464 15489334;14702039;12477932;11329013;20732626;20417281;19851299;20378664;20379614;21399614;23279374 201134 A2RRR7;B4DR29;F5GYE8;F5H850;J3KSN4;J3QL98;J3QQV3;J3QRD9;J3QSA5;Q8N8E3 AA723963;ABBA01029036;ABBA01029037;ABBA01029038;ABBA01029039;ABBA01029040;ABBA01029041;AC004805;AC006120;AC006440;AC007716;AC087302;AC105028;AF458591;AK096929;AK097612;AK098070;AK299075;AMYH01008572;AMYH01008573;AMYH01008574;AMYH01008575;AMYH01008576;AMYH01008577;BC029524;BC037991;BC131805;BG203878;BG531260;BX097629;CH471099;CX872964;DC327965;NM_001037325;NM_001199165;NM_145036 AAH29524;AAH37991;AAI31806;AAM49719;BAG53575;BAG61141;EAW89007;EAW89008;EAW89009;EAW89010;NP_001032402;NP_001186094;NP_659473;Q8N8E3 Hs.408676 1340065;1686540;1721929;1728107;1778450;2108847;2140414;2171748;2175653;5124039 D17S113;D17S1309;D17S1882;D17S1999;G59997;G63325;NUTF2_9060;RH45124;RH65001;RH94273 CCDC46;FLJ39610;MACOCO;MGC33887 centrosomal protein of 112 kDa;coiled-coil domain containing 46;coiled-coil domain-containing protein 46 APPROVED protein-coding ENSG00000154240 28514 11336 VALIDATED 1601819 CEP120 centrosomal protein 120kDa This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 5 5 5 q23.2 118636070 118714783 - 122708478 122787151 - 122680579 122759286 - 6480464 17920017;16344560;14702039;12477932;17920006;19079260;19584346;20360068;8889548;21139048;21890473;22589738;20881960 153241 B4DLH5;D6R8Z4;D6RC69;D6REX9;E5RJ50;F8VRV0;Q8N960 ABBA01068940;AC010369;AC106792;AK093409;AK095646;AK296999;AL833929;AMYH01015589;BC040527;BC144558;BX648687;CB854619;CH471086;CR627324;DA508726;DB092908;NM_001166226;NM_153223 BAC04155;BAC04596;BAG59537;CAD38785;CAH10371;CAH10561;EAW48873;EAW48874;EAW48875;NP_001159698;NP_694955;Q8N960 Hs.483209 1684864;1688648;1703590;1739059;2133323 D5S1779;RH92910;RH98859;SHGC-64745;STS-H99380 CCDC100;DKFZp686I06246;FLJ36090;FLJ38327 OTTHUMP00000159173;OTTHUMP00000223003;centrosomal protein of 120 kDa;coiled-coil domain containing 100;coiled-coil domain-containing protein 100 APPROVED protein-coding ENSG00000168944 26690 08769 613446 REVIEWED 1344060 CEP128 centrosomal protein 128kDa 14 14 14 q31.1 61002764 61445813 - 80032577 80475637 - 80962821 81405884 - 6480464 18029348;16344560;14702039;12477932;21399614;20966902;20379614;21139048;21890473;21906983;23362303 145508 G3V3F4;G3V3U2;G3V4J9;H0YIZ9;H0YJD7;H0YJE3;H0YJH2;Q6ZU80;Q86TS1;Q9ULA4 ABBA01030613;AC010072;AC018513;AC022404;AI857800;AI937080;AK056756;AK125925;AK309833;AMYH01005899;AMYH01005900;AMYH01005901;BC036939;BC045834;BC150610;BX248746;CD366820;DB320407;HQ215523;NM_152446 AAF09033;AAF86565;AAG17473;AAH36939;AAH45834;AAI50611;ADP09384;BAB71273;CAD66553;NP_689659;Q6ZU80 Hs.162889 1657323;1705512;1718709;1719431;1723171;1748727;1756325;1775116;1776759;2118321;2128814 D14S1238;G10271;G36009;RH11025;RH123433;RH123770;RH124025;RH68242;SHGC-110367;SHGC-143310;SHGC-83852 C14orf145;C14orf61;LEDP/132 OTTHUMP00000246025;centrosomal protein of 128 kDa;hypothetical protein LOC145508;lens epithelium-derived protein APPROVED protein-coding ENSG00000100629 20359 09834 VALIDATED 1605084 CEP164 centrosomal protein 164kDa This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 11 11 11 q23.3 114356228 114441648 + 116703781 116789192 + 117198571 117283982 + 6480464 19197159;18283122;17954613;16052032;14702039;14654843;22863007;12477932;10470851;11076968;12221128;12852856;16462731;7790358;16196087;18029348;21987572;21139048;19322201;22004425;23150559;23253480;23314748 22897 E9PI05;E9PIM2;E9PLS8;E9PR73;Q9UPV0 AB028975;ABBA01039725;ABBA01039726;ABBA01039727;AK001412;AK125995;AK302991;AK303067;AL117632;AL137265;AL833532;AMYH01004062;AP000892;AP001822;BC000602;BC054015;BX647583;BX648682;CH471065;NG_033032;NM_001271933;NM_014956 AAH00602;AAH54015;AAI52749;AAI56877;BAA83004;BAA91677;BAC86384;BAG64184;BAH13870;CAB56023;CAB70664;EAW67318;EAW67319;EAW67320;EAW67321;NP_001258862;NP_055771;Q9UPV0 Hs.504009 1671235;1676073;1737983 D11S3585;G29552;RH80543 FLJ54767;KIAA1052;NPHP15 OTTHUMP00000235011;OTTHUMP00000235015;centrosomal protein of 164 kDa protein-coding ENSG00000110274 29182 10854 614845;614848 REVIEWED 1604825 CEP152 centrosomal protein 152kDa This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 15 15 15 q21.1 25923760 25996973 - 46817640 46890476 - 49030135 49103343 - 6480464;7240710 15489334;14654843;12477932;12421765;10048485;20547088;20852615;21059844;21059850;10409428;15146197;20598275;21131973;18029348;20360068;21903422;21139048;22219177;10521316;20682791;21145461;23251661;23402259;22505724 22995 H0YMG1;H0YN91;O94986;Q3B7A2 AB020719;ABBA01039135;AC012379;AC022084;AC084757;AI038653;AK025247;AK303805;AMYH01006629;BC029603;BC069186;BC107721;BC117182;BG941609;BX648822;CH471082;CN394613;NG_027518;NM_001194998;NM_014985 AAH69186;AAI07722;AAI17183;BAA74935;BAG64759;EAW77355;NP_001181927;NP_055800;O94986 Hs.443005;Hs.597323 1337418;1652710;1675387;1711284;1788442 D15S962;RH91342;SHGC-37705;SHGC-89292;fe05g09.x1 FLJ21594;KIAA0912;MCPH4;MCPH9;SCKL5 asterless;centrosomal protein of 152 kDa;microcephaly, primary autosomal recessive 4 APPROVED protein-coding ENSG00000103995 29298 16778 604321;613529;613823;614852 REVIEWED 1345091 CEP170B centrosomal protein 170B 14 14 14 q32.33 85386210 85417492 + 104402699 104434132 + 105331650 105363107 + 737633;6480464 12477932 15489334;15146197;14702039;12508121;9179496;20562859;16712791;17549794;17370265;20360068;20682791;23382691;23087211 283638 E9PFC1;G3V432;J3KQR7;Q9Y4F5 AA244396;AB006622;ABBA01008848;ABBA01008849;AI828210;AK025023;AK091980;AK300834;AL537476;AL583810;AMYH01006071;BC047913;BC112928;BC127882;BU170784;CB156500;CH471061;CN314060;NM_001112726;NM_015005 AAH47913;AAI12929;BAA22953;BAG52454;BAG62485;EAW81886;NP_001106197;NP_055820;Q9Y4F5 Hs.533721 1655186;2119490 G36149;RH48502 CEP170R;FAM68C;KIAA0284;MGC131679 Cep170-related;OTTHUMP00000244363;OTTHUMP00000244364;centrosomal protein of 170 kDa protein B;hypothetical protein LOC283638;protein KIAA0284 APPROVED protein-coding ENSG00000099814 20362 12388 VALIDATED 1602374 CEP170P1 centrosomal protein 170kDa pseudogene 1 This locus appears to be a transcribed pseudogene similar to centrosomal protein 170kDa (CEP170). An approximately 50 kb region upstream of this locus also is homologous to CEP170, but is not transcribed. [provided by RefSeq, Jul 2008] 4 4 q26 119606245 119696724 + 119437495 119475359 + 12477932;16189514;19447967 645455 Q96L14 ABBA01044678;ABBA01044679;ABBA01044680;ABBA01044681;AC092670;AMYH01014483;AMYH01014484;BC014590;NR_003135 Q96L14 Hs.408293 1652615;1675365;1685085;1687127;1714127;1714415;1723519;1760561;1774034;2137529;2171047;2219846;5094074 D4S1255;D4S1286;G17821;G33981;G34957;KAB__6501;RH118577;RH119671;RH120200;RH65672;RH67046;RH80002;SHGC-143983 CEP170L;FAM68B;KIAA0470;KIAA0470L;MGC26143 APPROVED pseudo ENSG00000154608 28364 PROVISIONAL 1605104 CEP170 centrosomal protein 170kDa The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q44 216649094 216705506 - 241354353 241485331 - 243287730 243418708 - 6480464 18654987;17081983;16710414;16083285;15616186;15489334;15342556;15324660;14702039;14654843;12477932;9455484;22261722;19626040;20379614;22586326;15161933;17043677;20360068;12938929;21139048;22321011;21628590;23087211;22190034 9859 E5RFU8;E5RG47;E5RGW7;E5RIH6;E5RJT5;E7EMW0;E7EWM2;H0Y2V6;H0Y4T4;H0YB66;H0YB92;Q5SW79 AB007939;AB022657;AB022658;AB022659;ABBA01001590;ABBA01005648;ABBA01005649;ABBA01047217;ABBA01047218;AC092782;AK001664;AK296812;AK299552;AK310003;AK313722;AL161964;AL606534;AMYH01001882;AMYH01001883;AMYH01001884;BC050722;BC078155;BC140794;BC146790;BP349206;BP349680;CB410835;CH878356;NG_029663;NM_001042404;NM_001042405;NM_014812 AAH50722;AAH78155;AAI40795;AAI46791;BAA32315;BAA83378;BAA83379;BAA83380;BAG36464;BAG50958;BAG59385;BAG61497;CAB82309;EAW50478;NP_001035863;NP_001035864;NP_055627;Q5SW79 Hs.533635 1652615;1675365;1685085;1686108;1687127;1714127;1714415;1723519;1774034;2137529;2171047;2219846;5094074 D4S1255;D4S1286;G17821;G33981;G34957;KAB__6501;RH118577;RH119671;RH120200;RH65672;RH67046;RH80002;RH92199 FAM68A;KAB;KIAA0470 KARP 1 binding protein;KARP-1-binding protein;KARP1-binding protein;OTTHUMP00000037806;OTTHUMP00000037807;OTTHUMP00000037808;OTTHUMP00000037809;XRCC5 binding protein;centrosomal protein of 170 kDa APPROVED protein-coding ENSG00000143702 28920 17172 613023 REVIEWED 1602846 CEP19 centrosomal protein 19kDa 3 3 q29 197918298 197923491 - 196433148 196439123 - 6480464 16189514;15489334;14702039;12477932;21399614;17207965 84984 A8MX07;Q96LK0 ABBA01033752;AC055725;AK058155;AK314070;AMYH01013796;AY099509;BC007827;NM_032898 AAH07827;AAM47487;ADQ32381;BAB71691;BAG36771;NP_116287;Q96LK0 Hs.282800 1699124;5015605 D11S2977;RH103138 C3orf34;MGC14126 OTTHUMP00000204669;centrosomal protein 19kDa;centrosomal protein of 19 kDa;hypothetical protein LOC84984 APPROVED protein-coding ENSG00000174007 28209 17488 VALIDATED 1604786 CEP290 centrosomal protein 290kDa This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008] 12 12 q21.32 86966921 87060124 - 88442790 88535993 - 6480464;7240710 16682973;12493773;14654843;18950740;18772192;18694559;18327255;18079693;17898177;17724218;17705300;17617513;17564974;17564967;17554762;17409309;17345604;17081983;16909394;16682970;16632484;16541075;15474516;14702039;12477932;11162484;11149944;9205841;8889548;14623284;22261722;11076968;12221128;12852856;16462731;19753312;19764032;19959640;7790358;20130272;20683928;20936779;20801516;21068128;20301537;21245082;20805370;20690115;21685394;22355252;21139048;21890473;19596686;20301475;20301500;22441691;21565611;22863007;23411883;23028714 80184 F8VS29;F8W097;F8W0V9;J3KNF5;O15078;Q05BJ6 AB002371;ABBA01053428;AC091516;AF273044;AF317887;AK023677;AK025632;AMYH01004646;AY590151;BC008641;BC043398;BK005587;BU676074;BX537653;CH471054;DQ109808;NG_008417;NM_025114 AAG34904;AAH08641;AAH43398;AAI56463;AAI72566;AAK01919;AAT01278;AAZ83370;BAA20828;BAB15196;DAA05591;EAW97413;EAW97414;NP_079390;O15078 Hs.150444 1653957;1674616;1686708;1803260;1806400;1816456;1817150;1818872;1819318;1821050;1821188;1821592;1835646;1845140;2033970;2033972;2033974;2033976;2033978;2033980;2033982;2033984;2033986;2033988;2033990;2033992;2033994;2033996;2033998;2034000;2034002;2034004;2034006;2034008;2034010;2034012;2034014;2034016;2034018;2034020;2034022;2034024;2034026;2034028;2034030;2034032;2034034;2034036;2034038;2034040;2034042;2034044;2034046;2034048;2034050;2034052;2034054;2034056;2034058;2102076;2102078;2102080;2102082;2112112 DXS9796;ECD02523;ECD04156;ECD09270;ECD09625;ECD10500;ECD10726;ECD11602;ECD11671;ECD11882;ECD18979;ECD23787;REN87994;REN87995;REN87996;REN87997;REN87998;REN87999;REN88000;REN88001;REN88002;REN88003;REN88004;REN88005;REN88006;REN88007;REN88008;REN88009;REN88010;REN88011;REN88012;REN88013;REN88014;REN88015;REN88016;REN88017;REN88018;REN88019;REN88020;REN88021;REN88022;REN88023;REN88024;REN88025;REN88026;REN88027;REN88028;REN88029;REN88030;REN88031;REN88032;REN88033;REN88034;REN88035;REN88036;REN88037;REN88038;RH15617;RH77993;WI-22205;stSG603662;stSG603664;stSG603665;stSG603668 3H11Ag;BBS14;CT87;FLJ13615;FLJ21979;JBTS5;JBTS6;KIAA0373;LCA10;MKS4;NPHP6;POC3;SLSN6;rd16 Bardet-Biedl syndrome 14 protein;CTCL tumor antigen se2-2;Meckel syndrome, type 4;OTTHUMP00000242341;POC3 centriolar protein homolog;cancer/testis antigen 87;centrosomal protein of 290 kDa;monoclonal antibody 3H11 antigen;nephrocytsin-6;prostate cancer antigen T21;tumor antigen se2-2 APPROVED protein-coding ENSG00000198707 29021 08585;10856 209900;610142;610188;610189;611134;611755 REVIEWED 1318333 CEP44 centrosomal protein 44kDa 4 4 4 q34 172530576 172583267 + 175441435 175478057 + 175204828 175254531 + 737633;6480464 12477932 16344560;14702039;11214970;16189514;21399614;21139048;21906983;22505724 80817 D6RBX1;D6RC25;D6RGX6;Q9C0F1 AB051499;ABBA01070387;ABBA01070388;AC097653;AC116616;AK094961;AK292484;AL699124;AMYH01014723;AMYH01014724;AY426674;BC038667;BC045590;CH471056;DA347369;DB211405;NM_001040157;NM_001145314 AAH38667;AAR88428;BAB21803;BAF85173;BAG52965;EAX04738;EAX04739;EAX04740;NP_001035247;NP_001138786;Q9C0F1 Hs.555989 1666688;1690532;1767792;1776052;1785068;2136220;5015861;5016346;7185938 A007I47;D10S16;RH99078;SHGC-154726;SHGC-59571;SHGC-67365;SHGC-68045;WI-15112 KIAA1712;PS1TP3 HBV PreS1-transactivated protein 3;OTTHUMP00000218896;OTTHUMP00000218897;OTTHUMP00000218898;centrosomal protein of 44 kDa APPROVED protein-coding ENSG00000164118 29356 13885 VALIDATED 1605669 CEP192 centrosomal protein 192kDa 18 18 18 p11.21 12873895 13007438 + 12998499 13115052 + 12991361 13125052 + 6480464 14702039;18207742;17980596;15862967;14654843;11230166;10997877;11076968;12221128;12477932;12852856;16344560;16462731;19615732;20379614;7790358;21097701;22895009;23314748;18029348;19389623;20360068;21139048;21906983 55125 B7ZMF0;C9JT09;E9PF99;H0Y966;H0Y9P3;K7ELX0;K7ENP4;K7EPA2;K7EQZ8;K7ERF9;Q8TEP8;Q9HCK3 AA761229;AB046789;ABBA01074032;ABBA01074033;ABBA01074034;ABBA01074035;AF318363;AK001214;AK074074;AK094448;AK096548;AL136818;AL833494;AMYH01008844;AMYH01008845;AP001357;AP002449;BC144480;BC144481;BX648232;BX649151;DB079620;NM_032142 AAI44481;AAI44482;AAL55870;BAA91559;BAB13395;BAB84900;BAG52866;CAB66752;NP_115518;Q8TEP8 Hs.100914 1337734;1679884;1686472;1778416;2109215;7183427;7183681 Cep192_9877;D16S494;RH16502;RH68416;RH98709;SHGC-30984 PPP1R62 OTTHUMP00000218756;OTTHUMP00000218758;centrosomal protein of 192 kDa;protein phosphatase 1, regulatory subunit 62 protein-coding ENSG00000101639 25515 10855 VALIDATED 1347521 CEP250 centrosomal protein 250kDa This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. [provided by RefSeq, Jun 2009] 20 20 q11.22 33506564 33563217 + 34043223 34099803 + 1580863;6480464 18851962;9647649;12140259;11076968;10880350;18391951;15489334;15324660;15231748;12857871;12477932;11780052;11035016;9506584;20936779;12221128;12852856;16462731;20189936;20508983;7790358;20546612;23070519;21832049;20618440;15604093;21697133;21139048;21890473;17979178;20708153;23000965;23128233;21853274;22505724 11190 A6PVI9;E7ETF9;E9PHT2;H0Y5R2;H7C0D6;H7C0P0;Q5JWS5;Q5JWS6;Q9BV73 AB621828;ABBA01019160;AF022655;AF049105;AK297572;AK307861;AL037087;AL121586;AMYH01011874;BC001433;BC071869;BC144706;BM996444;CH471077;NM_007186 AAC06349;AAC07988;AAH71869;AAI72439;BAG59963;BAK64163;CAB89415;CAI42839;CAI42840;CAO03345;CAO03346;EAW76204;EAW76205;EAW76206;EAW76207;NP_009117;Q9BV73 Hs.443976 1799336;1799640;1801532;1804176;1804228;1805566;1805920;1806856;1807872;1808488;1809212;1809944;1811194;1811770;1812616;1812708;1813284;1814600;1814656;1814750;1814822;1815598;1817836;1818990;1819366;1821702;1824766;1825246;1826300;1830516;1830828;1831146;1832376;1833054;1833236;1835724;1836214;1836894;1837742;1837848;1838242;1838724;1839498;1840930;1841656;1842624;1842696;1843516;1973816;1973818;1973820;1973822;1973824;1973826;1973828;1973830;1973832;1973834;1973836;1973838;1973840;1973842;1973844;1973846;1973848;1973850;1973852;1973854;1973856;1973858;1973860;1973862;1973864;1973866;1973868;1973870;1973872;1973874;1973876;1973878;1973880;1973882;1973884;1973886;1973888;1973890;1973892;1973894;1973896;1973898;1973900;1973902;1973904;1973906;1973908;1973910;1973912;1973914;1973916;1973918;1973920;1973922;1973924;1973926;1973928;1973930;1973932;1973934;1973936;1973938;1973940;1973942;1973944;1973946;1973948;1973950;1973952;1973954;1973956;1973958;1973960;1973962;1973964;1973966;1973968;1973970;1973972;1973974;1973976;1973978;1973980;1973982;1973984;1973986;1973988;1973990;1973992;1973994;1973996;1973998;1974000;1974002;1974004;1974006;1974008;1974010;1974012;1974014;1974016;1974018;1974020;1974022;1974024;1974026;1974028;1974030;1974032;1974034;1974036;1974038;1974040;1974042;1974044;1974046;1974048;1974050;1974052;1974054;1974056;1974058;1974060;1974062;1974064;1974066;1974068;1974070;1974072;1974074;1974076;1974078;1974080;1974082;1974084;1974086;1974088;1974090;1974092;1974094;1974096;1974098;1974100;1974102;1974104;1974106;1974108;1974110;1974112;1974114;1974116;1974118;1974120;1974122;1974124;1974126;1974128;1974130;1974132;1974134;1974136;1974138;1974140;1974142;1974144;1974146;1974148;1974150;1974152;1974154;1974156;1974158;1974160;1974162;1974164;1974166;1974168;1974170;1974172;1974174;1974176;1974178;1974180;1974182;1974184;1974186;1974188;1974190;1974192;1974194;1974196;1974198;1974200;1974202;1974204;1974206;1974208;1974210;1974212;1974214;1974216;1974218;1974220;1974222;1974224;1974226;1974228;1974230;1974232;1974234;1974236;1974238;1974240;1974242;1974244;1974246;1974248;1974250;1974252;1974254;1974256;1974258;1974260;1974262;1974264;1974266;1974268;1974270;1974272;1974274;1974276;1974278;1974280;1974282;1974284;1974286;1974288;1974290;1974292;1974294;1974296;1974298;1974300;1974302;1974304;1974306;1974308;1974310;1974312;1974314;2109129;2175942;2181023;2215292;2215294;2215296;2215298;2215300;2215302;2215304;2215306;2215308;2215310;2215312;2215314;2215316;2215318;2215320;2215322;2215324;2215326;2215328;2215330;2215332;2215334;2215336;2215338;2215340;2215342;2215344;2215346;2215348;2215350;2215352;2215354;2215356;2215358;2215360;2215362;2215364;2215366;2215368;2215370;2215372;2215374;5125775 CEP2_9239;ECD00517;ECD00674;ECD01644;ECD03008;ECD03037;ECD03731;ECD03913;ECD04393;ECD04911;ECD05226;ECD05596;ECD05964;ECD06595;ECD06889;ECD07318;ECD07365;ECD07662;ECD08330;ECD08358;ECD08406;ECD08442;ECD08836;ECD09972;ECD10560;ECD10750;ECD11937;ECD13481;ECD13724;ECD14263;ECD16393;ECD16550;ECD16709;ECD17327;ECD17669;ECD17760;ECD19019;ECD19268;ECD19611;ECD20039;ECD20094;ECD20293;ECD20540;ECD20931;ECD21658;ECD22025;ECD22519;ECD22555;ECD22967;REN57794;REN57795;REN57796;REN57797;REN57798;REN57799;REN57800;REN57801;REN57802;REN57803;REN57804;REN57805;REN57806;REN57807;REN57808;REN57809;REN57810;REN57811;REN57812;REN57813;REN57814;REN57815;REN57816;REN57817;REN57818;REN57819;REN57820;REN57821;REN57822;REN57823;REN57824;REN57825;REN57826;REN57827;REN57828;REN57829;REN57830;REN57831;REN57832;REN57833;REN57834;REN57835;REN57836;REN57837;REN57838;REN57839;REN57840;REN57841;REN57842;REN57843;REN57844;REN57845;REN57846;REN57847;REN57848;REN57849;REN57850;REN57851;REN57852;REN57853;REN57854;REN57855;REN57856;REN57857;REN57858;REN57859;REN57860;REN57861;REN57862;REN57863;REN57864;REN57865;REN57866;REN57867;REN57868;REN57869;REN57870;REN57871;REN57872;REN57873;REN57874;REN57875;REN57876;REN57877;REN57878;REN57879;REN57880;REN57881;REN57882;REN57883;REN57884;REN57885;REN57886;REN57887;REN57888;REN57889;REN57890;REN57891;REN57892;REN57893;REN57894;REN57895;REN57896;REN57897;REN57898;REN57899;REN57900;REN57901;REN57902;REN57903;REN57904;REN57905;REN57906;REN57907;REN57908;REN57909;REN57910;REN57911;REN57912;REN57913;REN57914;REN57915;REN57916;REN57917;REN57918;REN57919;REN57920;REN57921;REN57922;REN57923;REN57924;REN57925;REN57926;REN57927;REN57928;REN57929;REN57930;REN57931;REN57932;REN57933;REN57934;REN57935;REN57936;REN57937;REN57938;REN57939;REN57940;REN57941;REN57942;REN57943;REN57944;REN57945;REN57946;REN57947;REN57948;REN57949;REN57950;REN57951;REN57952;REN57953;REN57954;REN57955;REN57956;REN57957;REN57958;REN57959;REN57960;REN57961;REN57962;REN57963;REN57964;REN57965;REN57966;REN57967;REN57968;REN57969;REN57970;REN57971;REN57972;REN57973;REN57974;REN57975;REN57976;REN57977;REN57978;REN57979;REN57980;REN57981;REN57982;REN57983;REN57984;REN57985;REN57986;REN57987;REN57988;REN57989;REN57990;REN57991;REN57992;REN57993;REN57994;REN57995;REN57996;REN57997;REN57998;REN57999;REN58000;REN58001;REN58002;REN58003;REN58004;REN58005;REN58006;REN58007;REN58008;REN58009;REN58010;REN58011;REN58012;REN58013;REN58014;REN58015;REN58016;REN58017;REN58018;REN58019;REN58020;REN58021;REN58022;REN58023;REN58024;REN58025;REN58026;REN58027;REN58028;REN58029;REN58030;REN58031;REN58032;REN58033;REN58034;REN58035;REN58036;REN58037;REN58038;REN58039;REN58040;REN58041;REN58042;REN58043;RH78165;RH79248;STS-Z40915;stSG636635;stSG636636;stSG636638;stSG636639;stSG636640;stSG636641;stSG636642;stSG636643;stSG636644;stSG636645;stSG636646;stSG636647;stSG636648;stSG636649;stSG636650;stSG636651;stSG636652;stSG636653;stSG636654;stSG636655;stSG636656;stSG636658;stSG636659;stSG636660;stSG636661;stSG636662;stSG636663;stSG636664;stSG636665;stSG636666;stSG636667;stSG636668;stSG636669;stSG636670;stSG636671;stSG636672;stSG636673;stSG636674;stSG636675;stSG636676;stSG636677;stSG636678 C-NAP1;CEP2;CNAP1;MGC88542 250 kDa centrosomal protein;OTTHUMP00000030757;centrosomal Nek2-associated protein 1;centrosomal protein 2;centrosomal protein, 250-KD;centrosome associated protein;centrosome-associated protein CEP250 APPROVED protein-coding ENSG00000126001 1859 09877 609689 REVIEWED 1322775 CEP57L1P1 centrosomal protein 57kDa-like 1 pseudogene 1 10 10 10 q22.1 65429132 65430386 + 71819026 71820495 + 72149122 72150376 + 221017 ABBA01019624;AC022532;AMYH01002812;CH471083;NG_005976 EAW54398 C10orf37;C6orf182P chromosome 10 open reading frame 37 APPROVED pseudo 23521 INFERRED 1605105 CEP350 centrosomal protein 350kDa The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q25.2 153031443 153191583 + 178190531 178350638 + 179923908 180084015 + 6480464 17878239;17081983;16713569;16710414;16565220;16344560;16341674;16314388;15615782;14702039;14654843;12477932;11891061;9455484;9110174;8889548;8619474;20379614;18029348;20936779;21282530;21963094;23568457;22990118;19156129;20360068;21139048;21890473;21906983;22286137;22505724 9857 A2A4F6;E9PIK0;H0Y6Q4;H0Y7F7;H0YD38;Q5T2X4;Q5T2X5;Q5VT06 AB007949;ABBA01027803;ABBA01027804;AF287356;AF387614;AK000704;AK022813;AK026986;AK095601;AK126046;AL353708;AL390718;AL590632;AL645487;AMYH01001534;AMYH01001535;AY007149;BC017847;BC033619;BC048310;BM675467;BM787594;BM905228;CH471067;DA716735;DB072323;NM_014810 AAH17847;AAI72424;AAL55733;AAL91355;BAA32325;EAW91070;EAW91071;EAW91072;EAW91073;NP_055625;Q5VT06 Hs.413045 1341997;1648619;1656134;1693040;1720243;1724183;1752701;1772113;2110297;2137631;2145809 AL009954;AL034248;CAP350__4502;D1S2751;RH121227;RH123870;RH69987;SHGC-106562;SHGC-63646;SHGC-76001;SHGC-76004 CAP350;FLJ38282;FLJ44058;GM133;KIAA0480;RP11-502H18.1 OTTHUMP00000033199;centrosome associated protein 350;centrosome-associated protein 350;centrosome-associated protein of 350 kDa APPROVED protein-coding ENSG00000135837 24238 09870 REVIEWED 1346248 CEP41 centrosomal protein 41kDa This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 7 7 7 q32 124832140 124876628 - 129823611 129868090 - 130033612 130081051 - 1580863;6480464 14654843;15489334;14702039;12690205;12477932;12034494;21438139;22246503;16712791;16344560;22456293;20301500 95681 C9IZ34;C9J6R3;C9J9X8;C9JCX6;C9JXA0;F8WAV3;F8WF85;Q9NPV3 AACC02000033;ABBA01057588;AC007938;AF429308;AF429309;AJ278890;AK026098;AK298618;AK311382;AK314676;AL359617;AMYH01017933;AY186739;BC018789;BC047500;BC056162;CB155730;CH236950;CH471070;DB069500;NG_032164;NM_001257158;NM_001257159;NM_001257160;NM_018718;NR_046443 AAH56162;AAM43959;AAM43960;AAO31692;BAB15359;BAG37230;BAG60797;CAB94886;CAC33567;EAL24088;EAW83764;NP_001244087;NP_001244088;NP_001244089;NP_061188;Q9BYV8 Hs.368315 1656071;1666427;1676190;1676308;1775145;2107721;2123098;2144782;2171960;2173055;2185341;5015619;5015861;5015879;5020740;5022200;5022578;5037552;7185938 D10S16;D11S3114;D1S1423;D7S1861;D7S1958;D7S2107E;D7S2396;D7S2948;D8S2279;GDB:314949;GDB:3755043;L17809;L18426;RH92008;RH93033;SHGC-30423;TSGA14__5148;WI-14634 DKFZp762H1311;JBTS15;TSGA14 OTTHUMP00000212490;OTTHUMP00000212519;OTTHUMP00000212521;centrosomal protein 41 kDa;centrosomal protein of 41 kDa;testis specific protein A14;testis specific, 14;testis-specific gene A14 protein APPROVED protein-coding ENSG00000106477 12370 15574 610523;614464 REVIEWED 1347020 CEP57L1 centrosomal protein 57kDa-like 1 6 6 6 q21 110162263 110231004 + 109523049 109591808 + 109416356 109485115 + 6480464 16344560;16341674;15489334;14702039;12477932;17207965;17043677;21890473;19322201 285753 E5RFY4;E5RG21;E5RG82;E5RGP2;E5RGU5;E5RH23;E5RHF8;E5RI49;E5RIK8;E5RIV2;E5RJG4;E5RJH1;E5RJP9;E5RK85;G3V140;G5E992;H0YB52;Q5T6A0;Q6P2R3;Q8IYX8 AA761530;ABBA01026136;ABBA01026137;AK092723;AK289910;AL355305;AMYH01016581;BC033448;BC064365;BM787514;BQ267680;BX093163;CH471051;DB204503;DB522144;NM_001083535;NM_001271852;NM_001271853;NM_173830 AAH33448;AAH64365;ADQ32441;BAF82599;EAW48361;EAW48362;EAW48363;EAW48364;EAW48365;EAW48366;NP_001077004;NP_001258781;NP_001258782;NP_776191;Q8IYX8 Hs.632616 1723185;1750623;1768803;2182725 RH118418;SHGC-111913;STS-AA027059;STS-N30830 C6orf182;MGC21731;MGC70837;bA487F23.2;cep57R OTTHUMP00000016948;OTTHUMP00000016949;OTTHUMP00000225749;OTTHUMP00000225768;OTTHUMP00000225769;OTTHUMP00000225799;centrosomal protein 57kDa-like protein 1;centrosomal protein CEP57L1;centrosomal protein of 57 kDa-related protein;cep57-related protein;cep57R APPROVED protein-coding ENSG00000183137 21561 10792 VALIDATED 1313311 CEP55 centrosomal protein 55kDa 10 10 q23.33 95246399 95278839 + 95256369 95288849 + 6480464 19525975;18948538;18641129;17853893;17556548;17237822;17081983;16790497;16406728;16344560;16198290;16189514;15489334;15164054;14702039;12477932;8125298;22318606;22591637;16385451;19609239;19855176;17207965;21079244;20400365;21163940;19638580;20360068;21139048;21890473;21906983;22184120;20176808;22771033;18940611;22505724 55165 H0Y432;Q53EZ4 AB091343;ABBA01021866;ABBA01021867;ABBA01021868;AK001402;AK223495;AK315536;AL356214;AMYH01002959;AMYH01002960;AY788918;BC008947;BX640718;CH471066;CS158015;CS588714;CS588722;CS588730;DA545074;NM_001127182;NM_018131 AAH08947;AAX14687;ADQ31821;BAA91670;BAD97215;BAE45243;BAG37915;CAE45837;CAJ29952;CAN87445;CAN87449;CAN87453;EAW50071;EAW50072;NP_001120654;NP_060601;Q53EZ4 Hs.14559 1680956 RH80316 C10orf3;CT111;FLJ10540;URCC6 OTTHUMP00000020117;cancer/testis antigen 111;centrosomal protein of 55 kDa;up-regulated in colon cancer 6 protein-coding ENSG00000138180 1161 12569 610000 VALIDATED 1319252 CEP68 centrosomal protein 68kDa 2 2 2 p14 65129881 65160529 + 65136999 65167646 + 65283495 65314142 + 6480464 18042621;17570516;17194215;15815621;15489334;14702039;14654843;12477932;12168954;12107410;9847074;9628581;21072201;21890473 23177 F5H2Y2;Q5HYA6;Q76N32 AB011154;ABBA01075429;ABBA01075430;ABBA01075431;AC007318;AC007386;AC084278;AK000856;AK093846;AK094069;AK098786;AK299373;AK301173;AK304110;AMYH01010404;BC002982;BC004873;BC030534;BX648774;CA398160;CH471053;NM_015147 AAF03518;AAH02982;AAH04873;AAH30534;AAY14962;BAA25508;BAG61363;BAG62760;BAG65012;CAI46022;EAW99926;EAW99927;EAW99928;EAW99929;NP_055962;Q76N32 Hs.709257 1649003;1658020;1661197;1784266;1855304;2114228;2139282;2146254;2146256;5037552;5096009 A005C28;D8S2279;G20274;RH18462;RH36094;RH66231;RH78511;SHGC-172313;SHGC-32096;WI-13176;WIAF-2140 FLJ25920;FLJ36750;KIAA0582 OTTHUMP00000159934;OTTHUMP00000159935;centrosomal protein of 68 kDa protein-coding ENSG00000011523 29076 13808 VALIDATED 1602096 CEP63 centrosomal protein 63kDa This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 3 3 3 q22.2 132630858 132719766 + 135687265 135776545 + 134204575 134293855 + 6480464 12812986;14654843;18391952;16410684;16344560;16189514;15489334;14702039;12477932;11329013;20546612;17207965;11076968;12221128;12852856;16462731;19266077;7790358;17043677;20846217;21406398;20360068;22555018 80254 D6R9Q4;D6RAY6;H0Y900;H0YAE6;H0YAL1;Q96MT8 AA746981;ABBA01059154;ABBA01059155;AC010207;AC026117;AC109912;AC139764;AF113697;AK023448;AK023738;AK054897;AK056465;AK123837;AMYH01013514;BC014050;BC068997;BG182631;BI561425;BK005503;BX499930;CH471052;CX751767;DB011963;N36992;NG_032870;NM_001042383;NM_001042384;NM_001042400;NM_025180 AAH14050;AAH68997;ADQ31770;BAB14578;BAB14662;BAB71192;DAA05503;EAW79136;EAW79137;EAW79138;EAW79139;EAW79140;EAW79141;EAW79142;NP_001035842;NP_001035843;NP_001035859;NP_079456;Q96MT8 Hs.443301 1679864;1685630;1693642;1695324;1699076;1857825;2123449;5015881 D3S3896;GDB:335751;RH103114;RH91512;RH93637;SHGC-32557;SHGC-58555;SHGC-64746 FLJ13386;MGC78416 OTTHUMP00000216301;OTTHUMP00000216302;OTTHUMP00000216303;OTTHUMP00000216304;centrosomal protein of 63 kDa;centrosome protein CEP63 APPROVED protein-coding ENSG00000182923 25815 07826 614724;614728 REVIEWED 1602500 CEP57 centrosomal protein 57kDa This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 11 q21 92822024 92864242 + 95163290 95205502 + 95523625 95565857 + 6480464 12717444;12954732;10942595;14654843;15489334;14702039;12477932;12421765;7788527;15607035;16344560;19804566;21306487;21552266;19913121;20628086;11076968;12221128;12852856;16462731;18029348;7790358;21832049;22508265;23752268;23569207;19322201;21890473;21906983;20195357;23000965;23243019;22190034;22505724 9702 F5GXS6;F5GYW0;F5GZ93;F5H0C6;F5H1B0;F5H6R3;F5H7J4;H0YFT8;H0YGT4;Q9BVF9 AA730219;ABBA01040009;AK098647;AK125164;AK291245;AK293277;AMYH01003971;AP001877;AY225092;AY239292;BC001233;BC009053;BC029385;BC031048;BC039711;BG699097;CH471065;D42054;DB032301;NG_029829;NM_001243776;NM_001243777;NM_014679 AAH01233;AAH29385;AAH39711;AAO73938;AAP72184;BAA07654;BAF83934;BAG56806;EAW66965;EAW66966;EAW66967;EAW66968;EAW66969;EAW66970;NP_001230705;NP_001230706;NP_055494;Q86XR8 Hs.101014 1662700;1665135;1686804;2117393;2148778;2169116;5109713 D11S2230E;D11S4333;RH25320;RH36085;STS-AA021450;STS-D42054;WI-21801 KIAA0092;MVA2;PIG8;TSP57 FGF2-interacting protein;OTTHUMP00000236690;OTTHUMP00000236691;OTTHUMP00000236698;centrosomal protein of 57 kDa;proliferation-inducing protein 8;testis-specific protein 57;translokin APPROVED protein-coding ENSG00000166037 30794 16261 607951;614114 REVIEWED 1601960 CEP70 centrosomal protein 70kDa 3 3 3 q22.3 136638100 136738061 - 139695876 139795819 - 138213186 138313129 - 6480464 16713569;16189514;15489334;14702039;14654843;12477932;8125298;11076968;12221128;12852856;16462731;19060904;7790358;20734064;18029348;21795687;22427462;21078624;21900206;21906983;22505724 80321 B7Z2D2;C9J0F4;C9J710;C9J966;C9JZ04;H7C4Y6;Q9H940 ABBA01059091;AC020890;AC022497;AC072045;AF202146;AF289495;AK023098;AK225440;AK294587;AK295866;AK299003;AK301913;AK314314;AMYH01013531;BC016050;BC030598;BM908227;BU634409;BX331994;CH471052;NM_024491 AAG35616;AAG35791;AAH16050;AAH30598;BAB14403;BAH11818;BAH12209;BAH12924;BAH13584;EAW79060;EAW79061;EAW79062;EAW79063;NP_077817;Q8NHQ1 Hs.531962 1340146;1697290;1784808;7185164 D2S304;RH102142;SHGC-155251 BITE;FLJ13036 OTTHUMP00000216889;OTTHUMP00000216891;OTTHUMP00000216892;OTTHUMP00000216893;OTTHUMP00000216896;centrosomal protein of 70 kDa;p10-binding protein protein-coding ENSG00000114107 29972 16779 614310 VALIDATED 1346976 CEP78 centrosomal protein 78kDa 9 9 9 q21.2 51428255 51459253 + 80040811 80071803 + 80850991 80881983 + 737633;6480464 12477932 16344560;14702039;14654843;11076968;12221128;12852856;16462731;7790358;20562859;20360068;21139048;21890473;18654987;22505724 84131 A8MST6;Q5JTW2 ABBA01033943;AK022705;AK303457;AL353705;AMYH01021434;BC058931;BC091515;BC128058;CA429071;DA970400;NM_001098802;NM_032171 AAH91515;AAI28059;BAB14190;BAH13965;NP_001092272;NP_115547;Q5JTW2 Hs.374421 1651464;1657891;2141185 A008B24;D9S1980;RH78042 C9orf81;FLJ12643;FLJ52093;IP63;MGC135040 OTTHUMP00000021520;OTTHUMP00000021521;OTTHUMP00000021522;OTTHUMP00000021523;OTTHUMP00000240118;centrosomal protein of 78 kDa protein-coding ENSG00000148019 25740 VALIDATED 1313060 CEP76 centrosomal protein 76kDa This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 18 18 18 p11.21 12555434 12585508 - 12662631 12692703 - 12672631 12702703 - 737633;6480464 12477932 21145461;22261722;19460342;16713569;16189514;15489334;14702039;14654843;11076968;12221128;12852856;16462731;7790358;18071751;20360068;22441691;21139048 79959 B4DP81;K7EII2;K7EIV8;K7EP44;K7EPF5;Q8TAP6 ABBA01074026;ABBA01074027;ABBA01074028;AK022604;AK298223;AK301964;AK303117;AL833727;AMYH01008838;AP005482;BC026307;BC033026;BX505397;CH471113;DA476378;EF445040;NM_001271989;NM_024899;NR_073537 AAH26307;ACA06091;BAB14123;BAG60493;BAG63377;BAG64223;CAH56252;EAX01543;NP_001258918;NP_079175;Q8TAP6 Hs.236940 1647229;1675933;5016478;5020948;5022578;5024756;5109281 D1S1423;D1S1425;G35510;GDB:434012;RH80030;RH80113;SHGC-36933 C18orf9;FLJ12542;HsT1705 OTTHUMP00000162484;centrosomal protein of 76 kDa protein-coding ENSG00000101624 25727 12694 REVIEWED 1352373 CEPA congenital episodic primary apnea 1064 1860 1603993 CEP72 centrosomal protein 72kDa The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008] 5 5 5 p15.33 708943 749747 + 665405 706668 + 612405 653668 + 6480464 17081983;15489334;14702039;14654843;12477932;12168954;10819331;16189514;20228799;11076968;12221128;12852856;16462731;19447967;19536135;20090771;7790358;21078624;21890473;21963094;23251661;22797925 55722 Q9P209 AB040952;ABBA01034252;AC026740;AC106772;AK001427;AK299072;AMYH01014833;BC000132;BC001750;BG718176;CH471235;NM_018140 AAH00132;AAH01750;BAA91685;BAA96043;BAG61138;EAW51011;EAW51012;EAW51013;NP_060610;Q9P209 Hs.591741 2154808 WI-21058 FLJ10565;KIAA1519;MGC5307 OTTHUMP00000220686;centrosomal protein of 72 kDa APPROVED protein-coding ENSG00000112877 25547 07685 REVIEWED 1346539 CEP85L centrosomal protein 85kDa-like The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 6 6 6 q22 119525226 119775770 - 118892932 119079713 - 118781935 119031238 - 6480464 21938754;22558309;12747765;12477932;9110174;8619474;20639392;19584346;19615732;20379614;21890473;19305408;22010048;23166209;23463857 387119 A2A3P3;Q3ZCQ5;Q7Z5K7 ABBA01026026;ABBA01026027;ABBA01026028;AF131811;AF308284;AK302591;AL133101;AL359634;AL390069;AL589993;AMYH01016622;AMYH01016623;AY313778;BC036553;BC045657;BC048977;BC052778;BC064835;BC110835;BC126140;BC126142;CH471051;NG_021248;NM_001042475;NM_001178035;NM_206921;Z99496 AAG48252;AAH48977;AAH52778;AAI10836;AAI26141;AAI26143;AAI48460;AAI53055;AAP81009;BAG63844;EAW48196;EAW48197;NP_001035940;NP_001171506;NP_996804;Q5SZL2 Hs.656959 1684459;1696386;1705912;1714713;1735290;1735598;1753485;1777872;2137859;2164696;2178816 D12S1288;D12S1940;D3S2934E;D6S1145E;D6S1147E;RH120021;RH93170;SHGC-107437;SHGC-35059;SHGC-77838;SHGC-78085 C6orf204;MGC131785;NY-BR-15;RP11-57K17.2;bA57K17.2 OTTHUMP00000017094;OTTHUMP00000194463;OTTHUMP00000194465;centrosomal protein of 85 kDa-like;coiled-coil domain-containing protein C6orf204;hypothetical protein LOC387119;serologically defined breast cancer antigen NY-BR-15 APPROVED protein-coding ENSG00000111860 21638 12874 VALIDATED 1343045 CEP97 centrosomal protein 97kDa 3 3 3 q12.3 99836584 99879276 + 102926184 102968871 + 101443494 101486181 + 737633;6480464 12477932 22261722;17719545;18068367;15489334;14702039;8125298;18029348;19460342;19596235;20360068;21139048;22441691 79598 E9PG22;F8WF91;H7C4Y5;Q8IW35 ABBA01061768;ABBA01061769;AC084198;AK026700;AK093100;AK225573;AK294784;AK309806;AL833269;AMYH01013360;BC041085;CH471052;NM_024548 AAH41085;BAB15531;BAC04055;BAG57909;EAW79777;EAW79778;NP_078824;Q8IW35 Hs.444135 1667205;1787818;2121716;5015404;5022450 D10S275;L17705;SGC33242;SHGC-173283;SHGC-77158 2810403B08Rik;FLJ23047;FLJ26462;LRRIQ2 OTTHUMP00000214225;OTTHUMP00000214249;centrosomal protein of 97 kDa;leucine-rich repeat and IQ domain-containing protein 2 protein-coding 26244 08014 PROVISIONAL 1605924 CEP89 centrosomal protein 89kDa 19 19 19 q13.11 30063528 30156461 - 38061744 38154709 - 33369904 33462869 - 6480464 16395595;14702039;12477932;20383145;21139048;21890473;21906983;18029348 84902 K7EJF0;K7EPU8;K7EQI2;Q96ST8 ABBA01039604;ABBA01039605;ABBA01039606;AC008805;AC011449;AC119048;AK027546;AL832158;AMYH01009698;BC020195;BC029978;BC032307;BC136328;BE208545;BU196203;BU628988;BU630455;NM_032816 AAH20195;AAH32307;AAI36329;BAB55190;NP_116205;Q96ST8 Hs.599703 1335734;1685536;1712058;1712060;1722869;1777248 D19S868;G54009;G54010;G60527;RH93152;SHGC-7102 CCDC123;FLJ14640 centrosomal protein of 89 kDa;coiled-coil domain containing 123;coiled-coil domain-containing protein 123;coiled-coil domain-containing protein 123, mitochondrial APPROVED protein-coding ENSG00000121289 25907 08601 VALIDATED 1604312 CEP85 centrosomal protein 85kDa This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 1 1 1 p36.11 24957025 25001637 + 26433280 26477886 + 26560693 26605299 + 6480464 16710414;15489334;14702039;12477932;16751776;16344560;21044950;21906983;22895009;23251661 64793 F8W7K4;H7BZW2;Q6P2H3 ABBA01034901;ABBA01034902;AK024038;AK025653;AK299312;AL133609;AL137420;AL355877;AL451139;AMYH01000397;BC019902;BC064528;BQ951443;CH471059;DA666742;DB079544;DC403437;NM_001281517;NM_001281518;NM_022778 AAH19902;AAH64528;BAB14794;BAB15203;BAG61323;CAB63740;CAB70730;EAX07833;EAX07834;EAX07835;EAX07836;NP_001268446;NP_001268447;NP_073615;Q6P2H3 Hs.109051;Hs.63795 1682678;1695650;1696042;1697500;1733016;1750337;1756443;1765155 D1S1380;RH102252;RH79742;SHGC-112519;SHGC-143444;SHGC-148673;SHGC-78690;SHGC-83195 CCDC21;DKFZp434L0117;DKFZp434P232;FLJ13976;FLJ22000 OTTHUMP00000003454;OTTHUMP00000003455;OTTHUMP00000003456;centrosomal protein of 85 kDa;coiled-coil domain containing 21;coiled-coil domain-containing protein 21 APPROVED protein-coding ENSG00000130695 25309 07844 REVIEWED 1345389 CEPT1 choline/ethanolamine phosphotransferase 1 Cholinephosphotransferase catalyses the final step in the synthesis of phosphatidylcholine by the transfer of phosphocholine from CDP-choline to diacylglycerol. The synthesis of phosphatidylethanolamine by ethanolaminephosphotransferase occurs using an analogous reaction. This gene codes for a choline/ethanolaminephosphotransferase. The protein can synthesize either choline- or ethanolamine- containing phospholipids. Two alternatively spliced transcripts encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 109929250 109974702 + 111483772 111529247 + 111682249 111727724 + 1580863;6480464;6907045 10191259;14702039;12477932;12216837;20379614;17207965;17314511;19322201;21139048;22001757 10390 B3KN25;Q9Y6K0 ABBA01068396;AF068302;AF138862;AK023381;AL355816;AL832104;AL833102;AMYH01000945;BC032610;BC049196;BX487092;CH471122;NM_001007794;NM_006090 AAD25170;AAF61194;AAH32610;AAH49196;ADQ31816;BAG51187;CAH10403;EAW56469;EAW56470;EAW56471;EAW56472;NP_001007795;NP_006081;Q9Y6K0 Hs.363572;Hs.636850 1660341;1661296;1664449;1675836;1700834;1717189;1760199;2108723;2114430;2149379;2158293;2164327;5015861;5019070;5109525;7185938 A008Y23;CEPT1_9100;D10S16;D1S1745E;D1S2245;G44334;RH104042;RH121517;RH16277;RH92216;SGC33701;SHGC-132479;SHGC-32833;SHGC-75292;SHGC-75316 DKFZp313G0615;MGC45223 OTTHUMP00000014300;choline/ethanolaminephosphotransferase;choline/ethanolaminephosphotransferase 1;hCEPT1 APPROVED protein-coding ENSG00000134255 24289 13024 REVIEWED 1601939 CEP95 centrosomal protein 95kDa 17 17 17 q23.3 56973297 57004350 + 59933620 59964526 + 62503158 62534064 + 6480464 15231747;15489334;14702039;12477932;21399614;20936779;20379614;21890473;21906983;22505724 90799 B4DMD2;B7ZAE2;H0YJW6;J3KRC3;J3KRW3;J3KS50;J3KST6;J3QLG4;K7ENV0;Q96GE4 ABBA01035294;ABBA01035295;ABBA01035296;AC009994;AC138744;AK057326;AK290587;AK297409;AK316257;AL832822;AMYH01008560;BC009518;BC029461;CH471109;NM_138363 AAH09518;BAB71428;BAF83276;BAG59844;BAH14628;CAI46165;EAW94196;EAW94197;EAW94198;EAW94199;EAW94200;NP_612372;Q96GE4 Hs.569713 1658519;1783638;2130303;2130305;2176818 A001T18;G19625;RH12897;SHGC-172969;WI-20077 CCDC45;DKFZp667E1824 centrosomal protein of 95 kDa;coiled-coil domain containing 45;coiled-coil domain-containing protein 45 APPROVED protein-coding ENSG00000258890 25141 11279 PROVISIONAL 1312417 CERCAM cerebral endothelial cell adhesion molecule 9 9 9 q34.11 101833666 101850533 + 130222938 130239447 + 131182759 131199630 + 1580863;6480464 10608765;12477932;10819331;21987572;21890473 51148 B7ZBS8;B7ZBS9;B7ZBT0;Q96EZ5 AB040935;ABBA01043880;ABBA01043881;AF177203;AF218016;AK074519;AK074523;AK297929;AK307753;AK314294;AL359091;AMYH01021744;BC011811;BC098432;BC108698;BC119698;BC119699;BC152421;BX358794;CA447908;CH471090;CQ782450;CQ782458;CX871555;NM_016174 AAD51367;AAG17258;AAH11811;AAH98432;AAI08699;AAI19699;AAI19700;BAA96026;BAC11036;BAC11040;BAG60246;CAF85736;CAF85744;EAW87787;EAW87788;EAW87789;EAW87790;NP_057258;Q5T4B2 Hs.495230 1771490;5491254 MARC_6507-6508:992007256:1;SGC34509 CEECAM1;GLT25D3;MGC149620;MGC149621 OTTHUMP00000022267;OTTHUMP00000022269;cerebral cell adhesion molecule;cerebral endothelial cell adhesion molecule 1;glycosyltransferase 25 domain containing 3;glycosyltransferase 25 family member 3;probable inactive glycosyltransferase 25 family member 3 protein-coding ENSG00000167123 23723 16705 VALIDATED 1347243 CER1 cerberus 1, DAN family BMP antagonist This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008] 9 9 9 p23-p22 14653168 14656152 - 14709731 14712715 - 14719731 14722715 - 1580863;6480464;6484113;6907045 19113921;17029022;19453261;19390575;18452192;15621726;15489334;15340161;15164053;12477932;10049596;9501024;22543871;17207965;19789190;9660951;16798745 9350 O95813;Q3SY34 ABBA01065297;AF090189;AF400435;AL390732;AMYH01019241;BC069371;BC069405;BC069491;BC069503;BC103976;BC103977;BU071333;CD652441;CH471071;NM_005454 AAD19879;AAH69371;AAH69405;AAH69491;AAH69503;AAI03977;AAI03978;AAK92484;ADQ32905;EAW58691;NP_005445;O95813 Hs.248204 DAND4;MGC119894;MGC119895;MGC96951 DAN domain family member 4;OTTHUMP00000022757;cerberus;cerberus 1 homolog, cysteine knot superfamily (xenopus laevis);cerberus 1, cysteine knot superfamily, homolog;cerberus-related 1;cerberus-related protein APPROVED protein-coding ENSG00000147869 1862 04802 603777 REVIEWED 1312799 CERK ceramide kinase CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008] 22 22 q13.31 45458971 45512816 - 47080307 47134152 - 1580863;6480464;6907045 22230689;11956206;10947957;18662741;18156590;17957442;17392267;17274985;16488390;16269826;16170208;16081073;15899891;15489334;15461802;14769792;12855693;12477932;11258795;10591208;9837889;21255156;18029348;19125296;19501188;19778898;20877624;21621503;21832049;21139048;21906983;22579669 64781 F8WFD8;Q6NX59;Q8TCT0 AB051433;AB079066;ABBA01010461;ABBA01010462;ABBA01010463;AJ457828;AK025083;AK026892;AK291476;AL096766;AL118516;AL137600;AL832794;AMYH01012862;BC004278;BC008382;BC067255;BC108712;BC126940;BQ710170;BU187541;CH471138;CR456404;CR457365;NM_022766 AAH04278;AAH67255;AAI08713;AAI26941;BAB15585;BAB33316;BAC01154;BAF84165;CAD29884;CAG30290;CAG33646;CAK54380;CAK54679;EAW73438;EAW73439;EAW73440;EAW73441;EAW73442;NP_073603;Q8TCT0 Hs.200668 1715827;1721229;2153298;5019887 A007D26;G54699;G59458;RH119610 DKFZp434E0211;FLJ21430;FLJ23239;KIAA1646;LK4;MGC131878;dA59H18.2;dA59H18.3;hCERK OTTHUMP00000197262;acylsphingosine kinase;ceramide kinase;lipid kinase 4;lipid kinase LK4 APPROVED protein-coding ENSG00000100422 19256 09878 610307 VALIDATED 1314323 CERS1 ceramide synthase 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2008] 19 19 19 p12 18884162 18911776 - 18842117 18867953 - 18979361 19006953 - 1580863;6480464 22180294;15489334;15317812;15057824;12477932;12105227;9872981;2034669;20569235;19800881;19393694;21890473;21900206 10715 M0R0T2;P27544;Q5XG75 ABBA01051294;ABBA01051295;AC003972;AC005197;AF105005;AF105009;AL120193;AMYH01009602;AMYH01009603;AMYH01009604;AMYH01009605;BC032615;BC084582;BF343384;BM925585;BX453803;CH471106;M62302;NG_012070;NG_033056;NM_021267;NM_198207 AAA58500;AAC24611;AAD16892;AAH84582;EAW84745;EAW84746;NP_067090;NP_937850;P27544 Hs.412355 1656803;1739657;2176109 A006H36;D19S842E;WI-14123 LAG1;LASS1;MGC90349;UOG1 LAG1 homolog, ceramide synthase 1;LAG1 homolog, ceramide synthase 1 (S. cerevisiae);LAG1 longevity assurance homolog 1;ceramide synthase 1;lag1 longevity assurance homolog 1 (s. cerevisiae);longevity assurance (LAG1, S. cerevisiae) homolog 1;longevity assurance gene 1 protein homolog 1;protein UOG-1;upstream of GDF1 APPROVED protein-coding ENSG00000223802 14253 12114 606919 REVIEWED 1346381 CERKL ceramide kinase-like This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010] 2 2 q31.3 182109650 182229996 - 182401399 182521834 - 1600829;6480464;7240710 14681825 19667359;19158957;18978954;18521091;18519826;18515597;18055789;16581028;15708351;14702039;12477932;11956206;9507394;8889548;20801516;19913121;20591486;20628086;20677014;19501188;19578027;20379614;21508105;20301590 375298 Q5DVJ3;Q5DVJ4 ABBA01062288;ABBA01062289;AC013733;AC020595;AJ640141;AJ697855;AJ697856;AJ697858;AK129976;AK293844;AMYH01011314;AMYH01011315;AY357073;AY690329;AY690330;AY690331;AY690332;AY690333;BC137498;BC137499;BM969366;CH471058;HQ426666;HQ426667;HQ426668;HQ426669;HQ426670;HQ426671;HQ426672;HQ426673;HQ426674;HQ426675;HQ426676;HQ426677;HQ426678;HQ426679;JF290420;NG_021178;NM_001030311;NM_001030312;NM_001030313;NM_001160277;NM_201548;NR_027689;NR_027690 AAI37499;AAI37500;AAR13670;AAW47988;AAW47989;AAW47990;AAW47991;AAW47992;AEC33276;AEK85686;AEK85687;AEK85688;AEK85689;AEK85690;AEK85692;AEK85693;AEK85694;AEK85695;AEK85696;AEK85697;AEK85698;AEK85699;AEK85700;BAC85266;BAG57242;CAG26695;CAG26977;CAG26978;CAG26980;EAX10984;NP_001025482;NP_001025483;NP_001025484;NP_001153749;NP_963842;Q49MI3 Hs.732358 1727467;1748349;1848962;2149777 G35017;G62991;G66899;RH69434 RP26 OTTHUMP00000205490;OTTHUMP00000205491;OTTHUMP00000205492;OTTHUMP00000205494;OTTHUMP00000205495;ceramide kinase-like protein APPROVED protein-coding ENSG00000188452 21699 09757 608380;608381 REVIEWED 1323138 CERS5 ceramide synthase 5 This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 12 12 12 q13.12 49319058 49356938 - 48809848 48847364 - 50523581 50561097 - 1580863;6480464 12477932;16951403;18676372;17081983;17030510;16100120;15489334;20406683;16344560;22248339;21890473 91012 B4DQR7;B4DV54;F8VQZ6;F8VSK7;F8VXY1;F8VY42;F8W0U5;F8W1K4;F8W1N7;F8W1Z3;H0YHG4;H0YHK2;H0YI10;H0YIG1;Q49AQ3;Q8N5B7 ABBA01031556;ABBA01031557;ABBA01031558;ABBA01031559;AC074032;AC139016;AK026014;AK027087;AK058033;AK294521;AK298924;AK300937;AMYH01004451;BC014637;BC032565;BC033558;CH471111;CQ834406;DA230084;HY016808;NM_001281731;NM_147190;NR_104035 AAH32565;AAH33558;BAG57732;BAG61029;BAG62566;CAH05418;EAW58131;EAW58132;EAW58133;NP_001268660;NP_671723;Q8N5B7 Hs.270525 1652582;1739945;1742593;1847006;1848960;1852728;2142668;2171133;5491507 A003A47;D12S1200E;D12S1425;D12S1566;GDB:197914;MARC_16364-16365:1017765966:1;NIB1689;RH44718;SHGC-57795 FLJ25304;LASS5;MGC45411;Trh4 LAG1 homolog, ceramide synthase 5;LAG1 longevity assurance homolog 5;OTTHUMP00000242205;OTTHUMP00000242777;OTTHUMP00000242778;ceramide synthase 5;lag1 longevity assurance homolog 5 (s. cerevisiae) APPROVED protein-coding ENSG00000139624 23749 13963 615335 REVIEWED 1319080 CERS3 ceramide synthase 3 15 15 15 q26.3 77357728 77501799 - 98758123 98902448 - 100940600 101084925 - 1580863;6480464 20304771;18029348;15489334;12477932;22318606 204219 H0YK51;H0YMG6;H0YN05;Q8IU89 ABBA01020536;ABBA01020537;ABBA01020538;AC015723;AC027020;AK307191;AMYH01006971;BC027616;BC028703;BC034500;BC034970;CH471101;NM_178842 AAH28703;AAH34500;AAH34970;ABM81825;ABW03297;EAX02267;EAX02268;EAX02269;NP_849164;Q8IU89 Hs.662371 1338391;1678977;1703876;1757501 D13S1236;RH92119;SHGC-144879;SHGC-79062 ARCI9;LASS3;MGC27091 LAG1 homolog, ceramide synthase 3;LAG1 longevity assurance homolog 3;OTTHUMP00000194816;OTTHUMP00000194817;ceramide synthase 3 APPROVED protein-coding ENSG00000154227 23752 13961 615023;615276 VALIDATED 1319578 CERS4 ceramide synthase 4 19 19 19 p13.2 8145624 8198703 + 8180257 8233302 + 8274217 8327305 + 1580863;6480464 16344560;15489334;14702039;12477932;20080650;8125298;21757428 79603 H0YKC9;H0YKR4;H0YKS3;H0YLY3;H0YMY6;H0YN04;H0YNR6;M0QYQ3;Q53HF9;Q9HA82 ABBA01010852;ABBA01010853;AC022146;AK022151;AK055414;AK222621;AK225394;AMYH01009426;AMYH01009427;BC009828;BC063621;CH471139;DA381485;NM_024552 AAH09828;ABM84141;ABM87543;BAB13972;BAD96341;EAW68940;EAW68941;EAW68942;EAW68943;EAW68944;EAW68945;NP_078828;Q9HA82 Hs.515111 1783826;2186329;2219894 D19S1023;LASS4__6374;SHGC-154453 FLJ12089;LASS4;Trh1 LAG1 homolog, ceramide synthase 4;LAG1 longevity assurance homolog 4;ceramide synthase 4;lag1 longevity assurance homolog 4 (s. cerevisiae) APPROVED protein-coding ENSG00000090661 23747 13962 615334 VALIDATED 7247532 CES1P2 carboxylesterase 1 pseudogene 2 390732 ABBA01066526;AC136621;AMYH01007681;DY654505;DY654893;NR_033740 Hs.554599 1738761 D16S2848 pseudo 48928 VALIDATED 1320742 CERS2 ceramide synthase 2 This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 124053344 124063135 - 149204273 149214064 - 150937649 150947479 - 6480464 11543633;17353931;18165233;17081983;16344560;16341674;16263699;15489334;14702039;12477932;19728861;19912991;20383146;20406683;18194600;18029348;22939629;21928351;21139048;21890473;21906983;22169644;22573553;22580606;19805454;20195357;21988832;22178826;23000965;22991218;21755371;22190034;22336162 29956 H0YKH6;H0YLQ6;H0YNU7;Q5SZE1;Q5SZE2;Q5SZE3;Q5SZE4;Q5SZE6;Q96G23 ABBA01049363;ABBA01049364;AF177338;AF189062;AK001105;AK290989;AL590133;AMYH01001385;AMYH01001386;AY091458;BC001357;BC010032;BM069521;BM764143;BQ219926;BU543940;CH471121;DA019883;NM_022075;NM_181746;R94703 AAF01058;AAG17982;AAH01357;AAH10032;AAM12028;ABZ92021;BAA91505;BAF83678;EAW53497;EAW53498;EAW53499;EAW53500;EAW53501;EAW53502;NP_071358;NP_859530;Q96G23 Hs.744017 1673745;1771963;5017580 IB3045;LASS2;RH64627 FLJ10243;L3;LASS2;MGC987;SP260;TMSG1 LAG1 homolog, ceramide synthase 2;LAG1 longevity assurance 2;LAG1 longevity assurance homolog 2;OTTHUMP00000033028;OTTHUMP00000033029;OTTHUMP00000033030;OTTHUMP00000033031;ceramide synthase 2;lag1 longevity assurance homolog 2 (s. cerevisiae);longevity assurance (LAG1, S. cerevisiae) homolog 2;tumor metastasis-suppressor gene 1 protein APPROVED protein-coding ENSG00000143418 14076 06080 606920 REVIEWED 7060440 CERS6-AS1 CERS6 antisense RNA 1 2 q 169628461 169642939 - 12477932;16344560 100861402 ABBA01004958;AC009475;AI150099;AMYH01011242;BC035245;DB072723;DB077980;NR_045786;NR_045787 Hs.506829 1734760;1857270;2119202;2147375;2151388;2171667;2171669;2182255 A005N32;D2S1544E;D2S1648E;D2S2660;G20356;HUM0S12B10;RH16666;WI-15844 miscrna ENSG00000227617 44485 VALIDATED 1344824 CES1P1 carboxylesterase 1 pseudogene 1 This gene is a member of the carboxylesterase (CES) gene family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene does not encode a protein and the sequence is similar to the CES1 gene, so represents a pseudogene of the CES1 gene. [provided by RefSeq, Jun 2010] 16 16 16 q12.2 40308919 40322909 + 54352012 54364924 + 55794511 55808838 + 1580863;6480464 10452915;12477932;20931200;17264798;18794728;20195289;21510813 51716 Q9UKY3 AB187225;ABBA01066526;ABBA01066527;ABBA01066528;AC020766;AC136621;AC147362;AF106005;AMYH01007681;BC131699;CH471092;NR_003276 AAF14185;BAE48736;EAW82836;EAW82837 Hs.721645 2124583;2176828 D16S756;RH70948 CES1A2;CES1A3;CES4;CESR;PCE-3 APPROVED pseudo ENSG00000228695 18546 07009 REVIEWED 4144956 CES5AP1 carboxylesterase 5A pseudogene 1 22 22 22 q11.23 7494382 7536958 - 22009865 22052453 - 23701793 23724313 - 649264 ABBA01055107;AMYH01012641;AP000343;AP000344;BU585270;BX280446;CH471095;NR_037839 EAW59573 Hs.600549 carboxylesterase 5A pseudogene 1 pseudo ENSG00000215478 38516 PROVISIONAL 1352960 CES1 carboxylesterase 1 This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 16 16 q22.2 54394264 54424576 - 55836763 55867075 - 1580863;6480464;6484672;7240710 21621639 8218228;1918003;19343046;19332024;19185566;18983829;18794728;18485328;18328811;18305377;17764701;17537833;16971496;16962139;16419644;16344560;16282638;15931389;15489334;15475733;15475243;15188402;12960109;12773168;12725862;12721789;12679808;12477932;12022871;11950776;11812220;11409902;11015575;10562416;10518925;10452915;9003459;8406473;8049197;2612723;2070086;1997784;1748313;9311626;22525521;16712791;17264798;18599737;19225040;19487248;19508181;19658107;19715681;19733552;19932971;20195289;20422440;20529763;20975297;20649590;20931200;20530478;22943824;23467860;21081832;23111421;22588607;22237548;22700792;23275066 1066 H3BQR4;H3BQV8;H3BSU0;Q9UDG8 AB025026;AB119995;AB119996;AB119997;AB119998;AB187224;AB210087;AB210088;AB210089;AB210090;ABBA01025235;ABBA01025236;AC020766;AC147362;AF177775;AK290623;AK292209;AK301651;AMYH01007687;AMYH01007688;AMYH01007689;AU139632;AY033590;AY268104;BC009706;BC012418;BC110338;CB137639;CH471092;D21088;L07764;L07765;M55509;M65261;M73499;NG_012057;NM_001025194;NM_001025195;NM_001266;S73751;X52973;X96751 AAA16036;AAA35649;AAA35650;AAA35711;AAA83932;AAC60631;AAD53175;AAH12418;AAI10339;AAP20868;ABM82398;ABM85582;BAA04650;BAA84995;BAC87748;BAC87749;BAC87750;BAC87751;BAE48735;BAE48737;BAE48738;BAE48739;BAE48740;BAF83312;BAF84898;BAH13531;CAA37147;CAA65527;EAW82838;EAW82839;EAW82840;NP_001020365;NP_001020366;NP_001257;P23141 Hs.558865 1646698;1729560;2124583;2176828;2217144;5107567;5127486 CES1_2840;D16S2959;D16S306;D16S756;D16S759;RH11630;RH70948 ACAT;CE-1;CEH;CES2;HMSE;HMSE1;MGC117365;PCE-1;REH;SES1;TGH;hCE-1 REH;acyl coenzyme A:cholesterol acyltransferase;acyl-coenzyme A:cholesterol acyltransferase;brain carboxylesterase hBr1;carboxylesterase 1 (monocyte/macrophage serine esterase 1);carboxylesterase 2 (liver);cholesteryl ester hydrolase;cocaine carboxylesterase;egasyn;human monocyte/macrophage serine esterase 1;liver carboxylesterase 1;methylumbelliferyl-acetate deacetylase 1;monocyte/macrophage serine esterase;retinyl ester hydrolase;serine esterase 1;triacylglycerol hydrolase APPROVED protein-coding ENSG00000198848 1863 00268 114835 REVIEWED 1343383 CERS6 ceramide synthase 6 2 2 2 q24.3 162921561 163239455 + 169021081 169339398 + 169312759 169631644 + 6480464 18615156;15489334;14702039;12477932;11329013;20406683;19723703;19912991;20103619;20379614;22013072;8889548;21890473;21906983;22318606;22544924;23519469 253782 Q6ZMG9 ABBA01004956;ABBA01004957;ABBA01004958;AC009475;AC019086;AC097453;AI521447;AK023042;AK024891;AK091391;AK123214;AK172775;AL080192;AMYH01011241;AMYH01011242;BC030800;BC109284;BC109285;BE745491;BG206657;BM968545;BX393696;GN344081;JA738779;NM_001256126;NM_203463;U52135 AAH30800;AAI09285;AAI09286;BAD18757;CAY55976;CCF77042;NP_001243055;NP_982288;Q6ZMG9 Hs.506829;Hs.743222 1659632;1669812;1682175;1717781;1734760;1755075;1775517;1857270;2111324;2119202;2147375;2151388;2159534;2170320;2171667;2171669;2182181;2182255;2184592;2190807 A005N32;D2S1505E;D2S1544E;D2S1648E;D2S1737;D2S2127;D2S2660;G20356;HUM0S12B10;LOC253782;RH121800;RH16666;RH35853;RH68290;RH91148;SHGC-142010;SHGC-61991;WI-13837;WI-15844;WI-3728 CerS5;DKFZp434B102;LASS6;MGC129949;MGC129950 LAG1 homolog, ceramide synthase 6;LAG1 homolog, ceramide synthase 6 (S. cerevisiae);LAG1 longevity assurance homolog 6;OTTHUMP00000163046;OTTHUMP00000163047;ceramide synthase 6;lag1 longevity assurance homolog 6 (s. cerevisiae);longevity assurance homolog 6 APPROVED protein-coding ENSG00000172292 23826 17258 615336 VALIDATED 1602823 CES4A carboxylesterase 4A This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010] 16 16 16 q22.1 51530751 51551914 + 65580134 65601162 + 67022492 67043661 + 6480464 17364878;14702039;12975309;12477932;20161041;20422440;20931200;16751776 283848 F5GZV6;F5H5S4;F8WEE9;I3L191;Q5XG92;Q6P2E5 AA846813;ABBA01025423;ABBA01025424;AC009084;AK094321;AK094783;AK293061;AK295483;AK296064;AK300792;AMYH01007744;BC029039;BC041823;BC064573;BC084555;BI914453;CD369737;CH471092;DC306014;DC339496;DQ574542;NM_001190201;NM_001190202;NM_173815 AAH64573;AAH84555;AAI66638;BAC04422;BAF85750;BAH12085;BAH12248;BAH13349;EAW83065;NP_001177130;NP_001177131;NP_776176;Q5XG92 Hs.346947;Hs.734986 1655989;2124369;5014039;5016478;5020946;5022200;5022576;5022651;5024413;5037552 AFM268YF1;D11S2921;D1S1361;D22S1584;D8S2279;GDB:434012;L17877;L17971;L18426;SHGC-60675 CES6;CES8;FLJ37002;FLJ37464 OTTHUMP00000237118;OTTHUMP00000237120;OTTHUMP00000237122;OTTHUMP00000237123;carboxylesterase 4A;carboxylesterase 6;carboxylesterase 8;carboxylesterase 8 (putative) APPROVED protein-coding ENSG00000172824 26741 07116 REVIEWED 1606422 CES5A carboxylesterase 5A This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 16 16 16 q12.2 40376529 40486410 - 54437629 54466783 - 55880066 55989943 - 6480464 16344560;14702039;12477932;12401131;20931200;19727319;20161041;20379614;20422440 221223 E5RFG9;F5H0J7;I3L4A8;I3NI11;Q6NT32 ABBA01025236;AC007335;AC020766;AC147362;AK056109;AK090997;AK294334;AMYH01007689;AY907669;BC039073;BC069501;BC069548;BC117126;BC143692;CH471092;DA698987;NM_001143685;NM_001190158;NM_145024 AAH69501;AAH69548;AAI17127;AAI43693;AAX86044;BAB71094;BAC03565;BAH11738;EAW82841;EAW82842;EAW82843;EAW82844;NP_001137157;NP_001177087;NP_659461;Q6NT32 Hs.350800 1716885;2166191 RH121735;WI-10706 CAUXIN;CES4C1;CES5;CES7;FLJ31547 OTTHUMP00000164312;OTTHUMP00000164313;OTTHUMP00000228098;OTTHUMP00000228100;OTTHUMP00000228102;carboxylesterase 5;carboxylesterase 5A;carboxylesterase 7;carboxylesterase-like urinary excreted protein homolog APPROVED protein-coding ENSG00000159398 26459 07016 REVIEWED 3302259 CETN4P centrin EF-hand protein 4, pseudogene Centrins are members of the calcium-binding EF-hand protein superfamily and accumulate in centrosomes. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] 4 4 4 q27 121034368 121036635 - 123871151 123874357 - 123651344 123653613 - 6480464 20210993;17089211;18085818 729338 ABBA01044741;AC053545;AMYH01014493;AV733354;NG_021203;NR_024041 Hs.647968 1777102 D4S2648 APPROVED pseudo 35450 VALIDATED 735260 CES3 carboxylesterase 3 This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010] 16 16 16 q22.1 51503391 51517311 + 65552639 65566553 + 66995132 67009052 + 6480464 15188402;18794728;15100172;14702039;14581373;12975309;12477932;11181995;7916639;20529763;20931200;16344560;19508181;20422440;22700792 23491 H3BRE5;H3BUA3;Q6UWW8 ABBA01025423;AC009084;AK000105;AK025158;AK025171;AK025389;AK097538;AMYH01007744;AY358609;BC053670;CH471092;DA924627;EU595874;NM_001185176;NM_001185177;NM_024922 AAH53670;AAQ88972;ACD11491;BAB15123;BAC05093;EAW83060;EAW83062;NP_001172105;NP_001172106;NP_079198;Q6UWW8 Hs.268700 1660619;5109291 A008L06;D1S1459 ES31;FLJ21736 OTTHUMP00000174822;OTTHUMP00000174823;carboxylesterase 3;carboxylesterase 3 (brain);esterase 31;liver carboxylesterase 31 homolog APPROVED protein-coding ENSG00000172828 1865 07014 605279 REVIEWED 1344937 CETN1 centrin, EF-hand protein, 1 The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This encoded protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jul 2008] 18 18 18 p11.32 455077 456233 + 570367 571524 + 580369 581524 + 1580863;6480464 8175926;16760425;16246726;15489334;12477932;11279195;10725219;16101678;19615732;15514162 1068 Q12798 ABBA01049813;AK312047;AMYH01008771;AP001178;BC029515;CH471113;HC006882;HC044503;NM_004066;U03270 AAC27343;AAH29515;ABM81896;ABM85070;BAG34983;CBH19246;CBH30581;EAX01727;NP_004057;Q12798 Hs.122511 1686448;2218374 CETN1_4560;RH35650 CEN1;CETN EF-hand protein;OTTHUMP00000162193;calcium binding protein;caltractin;centrin-1 APPROVED protein-coding 1866 04425 603187 REVIEWED 736535 CES2 carboxylesterase 2 This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] 16 16 q22.1 65525848 65536500 + 66968347 66978999 + 6480464 12417987;9169443;9144407;19349540;19343046;19274604;18983829;18797458;18794728;18473752;18305377;18259949;17764701;17640957;17537833;17483951;16963839;16690525;16381901;16344560;15967118;15618752;15592324;15489336;15489334;15475733;15475243;14702039;12960109;12835618;12721789;12477932;11230166;11076863;10452915;8125298;19225040;19508181;19856659;19956635;20195289;20237496;20379614;20422440;20649590;20931200;19913121;20529763;20628086;22525521 8824 H3BUN5;J3QKN7;J3QLP1;J3QSC0;O00748 ABBA01025423;AC009084;AI601196;AK095522;AK222724;AK290482;AL713761;AMYH01007744;AU137474;AY851164;BC032095;BC071874;BC098417;BX538086;CH471092;D50579;NM_003869;NM_198061;NR_036684;U60553;Y09616 AAB03611;AAH32095;AAH71874;AAH98417;AAW29943;ABM83948;ABM87755;BAA23606;BAD96444;BAF83171;CAA70831;CAD28531;CAD98009;CAL37659;EAW83057;EAW83058;EAW83059;NP_003860;NP_932327;O00748 Hs.282975 1651317;1651891;1663006;1795558 CES2_1222;D16S3339;RH47644;RH71242 CE-2;CES2A1;PCE-2;iCE OTTHUMP00000174813;carboxylesterase 2;carboxylesterase 2 (intestine, liver);cocaine esterase;hCE-2;intestinal carboxylesterase; liver carboxylesterase-2;methylumbelliferyl-acetate deacetylase 2 APPROVED protein-coding ENSG00000172831 1864 07062 605278 REVIEWED 2289769 CFC1B cripto, FRL-1, cryptic family 1B 2 2 q21.1 130995137 131002035 + 131278667 131285565 + 8889548 653275 P0CG36 AC013269;AX277836;BM716751;BQ777283;BU784123;NM_001079530 AAY14955;CAD10661;NP_001072998;P0CG36 Hs.503733 1789258 G65628 OTTHUMP00000162396;cripto, FRL-1, cryptic family 1B;cryptic family protein 1B protein-coding ENSG00000152093 33983 VALIDATED 736112 CETN2 centrin, EF-hand protein, 2 Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008] X X q28 151746527 151749957 - 151995871 151999301 - 1580863;6480464;6907045;7246920 22572993 20980622;8248209;16760425;12176356;11256614;19179680;18177054;18172010;17897675;17603931;17081983;16820684;16627479;16533048;16464125;16411764;16381901;15964821;15489336;15489334;15356003;14504268;12890685;12802058;12578356;12477932;11279143;11076863;10854409;10788612;9665797;8597638;7713520;14767062;16101678;21091437;20360068;21676658;20586543;11076968;12221128;12852856;16462731;19615732;19706679;19857500;20508983;7790358;16956364;22939629;21731694;21139048;21890473;17154534;22809153 1069 P41208 AK311940;AMYH01023250;AY919675;BC005334;BC013873;BT007256;CH471172;NM_004344;U82671;X72964 AAH05334;AAH13873;AAP35920;AAW82436;BAG34881;CAA51467;CAL37917;EAW72900;NP_004335;P41208 Hs.82794 1701708;2122014 DXS52;STS-X72964 CALT;CEN2 OTTHUMP00000026058;caltractin (20kD calcium-binding protein);centrin 2;centrin-2 APPROVED protein-coding 1867 02051 300006 REVIEWED 733085 CETN3 centrin, EF-hand protein, 3 The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. [provided by RefSeq, Jul 2008] 5 5 q14.3 89725284 89741359 - 89689528 89705603 - 1580863;6480464 9256449;16169070;15654740;15489334;14731449;14711432;12477932;11279195;10725219;9843852;9004043;8798410;16101678;19615732;19734900;20508983;20098747;18029348;20360068;21890473;23000965 1070 E5RFM2;E5RH67;E5RJF8;E5RK82;H0YBL5;O15182 ABBA01062152;AC093510;AMYH01015476;BC005383;BC093793;BC112040;BT006688;BU633961;CB988525;CB998764;CH471084;CR450346;NM_004365;Y12473 AAH05383;AAH93793;AAI12041;AAP35334;CAA73077;CAG29342;EAW95977;NP_004356;O15182 Hs.591767 1684732 RH93659 CDC31;CEN3;MGC12502;MGC138245 CDC31 yeast homolog;EF-hand superfamily member;OTTHUMP00000162003;OTTHUMP00000228165;OTTHUMP00000228166;OTTHUMP00000228168;centrin, EF-hand protein, 3 (CDC31 homolog, yeast);centrin-3 APPROVED protein-coding ENSG00000153140 1868 04216 602907 REVIEWED 1344198 CFHL1P complement factor H-related 1 pseudogene 1711047 3079 X56210 4889 1353993 CFC1 cripto, FRL-1, cryptic family 1 This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 2 2 q21.1 131066805 131073552 - 131349738 131357148 - 1580863;6480464;7240710 15096953;18456715;19661783;21640172;11062482;18930707;18162845;17445335;17072672;15815621;15489334;15252450;12477932;11799476;10858660;20634891;19853937;12052855 55997 P0CG37 ABBA01142171;AC140481;AF312769;AF312925;AK290094;AK315326;AMYH01011076;BC069508;BC074825;BC074826;BC110080;BC146897;BG654700;BI793242;BM310214;BM509218;CA777249;CA941621;CA948246;DQ786275;JA283766;NG_008148;NM_001270420;NM_001270421;NM_032545 AAG30294;AAG42475;AAH69508;AAH74825;AAH74826;AAI10081;AAI46898;BAF82783;BAG37727;CCA65395;NP_001257349;NP_001257350;NP_115934;P0CG37 Hs.567542 1789258 G65628 CFC1B;CRYPTIC;DTGA2;FLJ77897;HTX2;MGC133213 OTTHUMP00000204816;cryptic;cryptic family protein 1;cryptic protein APPROVED protein-coding 18292 05548 217095;605194;605376;613853 REVIEWED 1350557 CFB complement factor B This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008] 6 6 p21.3 32021752 32027839 + 31913721 31919861 + 1580863;2311335;2311338;6480464;6907045;7240710;7242700;7242704;7242707;7242734;734771;7242736;7242737;7242753;7242754;7242755;7242756;7242759;7242760;7242763;7242764;7242709 19000152;3907907;22492944;17522263;17182750;12538716;12091909;10623824;8567024;1837062;3118258;21893562;20218820;17385664;2329415;3183062;3272818;16467447 17916747;17767156;17576744;17395591;17359931;17310251;16518403;16335952;16301317;16061287;15648851;15489334;14656967;14574404;12477932;11803045;11367533;11341920;10861231;10637221;10610782;10072631;10072540;8648130;8247029;8181962;8125298;6957884;6546754;6342610;6323161;6308626;11367526;162484;8225386;279011;3052276;15199963;19399715;19344414;19336475;19277984;19259132;19255449;19187590;19169232;19167759;19143814;19015224;19005416;19001225;18987644;18936151;18928972;18806297;18806293;18515590;18502988;18493315;18325906;18096230;18039777;17921140;6149579;3643061;3315100;3140783;2249879;2006911;1545147;1445220;889587;21665990;22869612;20385826;19117936;19279234;19423540;19556007;19574954;19603351;19661236;19696172;19825847;19833879;19834535;19838195;19851445;19899988;20007824;20106822;20108004;20109314;20157618;20193965;20205591;20378180;20385819;20406964;20438785;20466734;20513133;21205667;20523265;20861866;19913121;20587610;20628086;20575108;20801516;20848568;20888482;20837143;15582749;21163532;21541267;23112567;22930722;22273503;21282580;21555552;22705344;15174051;21988832;21816153;21862585;22542119;22232432;20301541;22234447;22694956;22714898;23455636;23750785;23263863;23233260;23235567 629 B0UXW4;B4E1Z4;C9JRT3;F8WBL9;H7C526;H7C5H1;Q9BX92 ABBA01038099;AF019413;AF349679;AF551848;AK130533;AK223400;AK304042;AL645922;AL662849;AL701961;AL844853;AMYH01016223;BC004143;BC007990;BI258352;BX005143;CD689714;CH471081;CR388180;CR388219;CR759782;CR933857;DC368322;J00126;J00185;J00186;K01566;L15702;M15082;NG_008191;NM_001710;S67310;X00284;X72875 AAA16820;AAA36219;AAA36220;AAA36225;AAA36226;AAA59625;AAB67977;AAD13989;AAH04143;AAH07990;AAK30167;AAN71991;ABM83239;ABM86442;BAD97120;BAG64953;CAA25077;CAA51389;EAX03550;NP_001701;P00751 Hs.69771 1657861;1658938;1775756;1797338;2108419;2125057;2137638;2148070 C2_3011;RDBP_8772;RH15801;RH18075;RH46865;SGC32658;SHGC-12705;WI-8686 AHUS4;BF;BFD;CFAB;FB;FBI12;FLJ54899;GBG;H2-Bf;PBF2 B-factor, properdin;C3 proaccelerator;C3 proactivator;C3/C5 convertase;OTTHUMP00000029283;complement factor B;glycine-rich beta glycoprotein;glycine-rich beta-glycoprotein;properdin factor B APPROVED protein-coding ENSG00000243649 1037 00718 138470;603075;612924 REVIEWED 1345977 CETP cholesteryl ester transfer protein, plasma Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters between lipoproteins. CETP may effect susceptibility to atherosclerosis. [provided by RefSeq, Jul 2008] 16 16 q21 55553263 55575257 + 56995835 57017756 + 1580358;1580359;1600654;1580863;6480464;7240710 10861897;10619997;16258026 18560005;18549840;18518852;18513389;18509195;18503096;18494281;18454345;18454146;18393253;18369235;18354102;18289550;18287799;18279878;18275964;18243217;18239576;18221399;18193044;18193043;18187430;18178167;18164013;18064308;18063597;18056760;18036514;18034366;18033754;17991755;17991668;17970962;17949364;17931083;17855807;17852818;17848121;17785925;17767699;17709636;17700364;17666459;17658505;17615573;17588582;17587768;17587762;17568951;17568242;17555738;17531380;17522050;17519358;17512363;17512305;17503098;17495597;17440012;17335774;17318300;17311515;17310124;17293475;17287950;17275808;17272756;17237796;17196207;17190939;17160943;17157861;17108362;17097007;17055779;17053273;16986521;16946130;2833496;2586614;3104518;19428034;19420105;19403283;19364639;19360375;19359809;19341173;19336370;19299407;19285487;19282863;19273719;19263529;19260141;19242900;19217440;19191759;19184337;19168039;19165812;19155782;19148283;19140312;19131662;19131637;19099922;19086575;19060911;19060910;19060906;19056482;19056069;19038848;19038839;19018779;18996102;18957472;18956684;18851690;18849221;18841571;18835593;18823627;18804459;18787507;18728123;18680734;18676680;18669886;18667902;18665040;18660489;18637884;18636124;18622260;18562803;16890925;12669678;12663600;12639975;12601526;12588754;12579494;12544508;12519369;12519368;12518020;12514935;12499392;12482565;12477932;12446192;12409629;12401886;12174215;12164095;12117730;12116231;12104085;12091484;12082592;12070157;12055319;12048136;12037734;12033532;12019635;11996962;11956670;11952809;11915346;11903340;11888533;11888509;11887180;11882335;11872695;11810297;11804197;11730826;11714857;11689220;11575217;11533368;11454014;16855190;16837242;16829344;16822236;16797310;16770077;16763159;16684835;16674961;16623947;16563399;16553359;16544732;16542392;16522905;16430904;16426594;16420563;16384616;16343038;16335952;16332659;16306375;16306202;16248996;16205020;16189514;16159884;16141008;16123327;16098387;16096813;16086925;16049032;16039291;16038892;16030523;16005462;16002074;15996208;15992403;15979432;15955471;15952120;15939053;15896905;15888337;15882786;15864114;15859394;15856070;15840744;15811250;15766738;15696473;15655129;15608561;15589073;15585206;15489334;15450208;15382463;15377415;15339254;15256516;15228446;15138631;15102891;15099350;15098490;15085362;15076187;15053158;15039125;15036597;14998629;14967821;14732872;14687732;14679166;14669156;14660992;14583798;14563342;14559957;14531818;12966036;12951364;12919138;12907677;12871320;12840632;12820950;12818414;12818401;12798569;12791674;12773093;12771549;12771320;12730302;12700892;11398140;11369008;11359462;11341749;11322655;11284423;11096142;11056092;10391209;9712344;9374130;9332354;9305883;8943225;8494888;8408659;8132678;7989465;3818596;3600759;3446583;2390095;2334701;2215607;1999438;20686565;20494359;20691829;20714348;20717043;20822508;20835684;20838585;20855565;21039385;21062971;20536507;20565774;20578904;20581105;20602615;20628086;20634891;20673868;20679960;20694148;20799898;22556171;16169070;16326978;16670775;17463246;18468607;18926541;19147676;19170196;19193611;19200546;19282272;19345354;19417222;19424605;19444232;19463799;19471550;19479237;19489872;19491422;19558216;19558660;19564641;19578796;19625176;19641010;19642912;19679263;19689828;19691831;19692168;19728844;19729601;19733717;19764573;19773416;19784962;19810818;19815603;19822408;19850020;19878569;19913121;19926784;19948972;19948975;19956635;19956911;20006332;20026784;20031538;20031551;20031564;20031591;20059631;20065167;20066028;20068209;20082485;20160193;20167577;20195290;20200605;20228163;20370913;20385819;20385826;20394740;20398902;20400780;20403997;20413122;20413969;20421239;20430392;20452482;20458649;20489166;20511482;7583561;20138746;20937151;20864672;20431066;21376264;21347282;21386085;21146168;21252145;22904275;22729881;22854712;21591583;21665990;21352420;21609439;23083790;21354572;21371711;22952570;21380728;21816162;21767357;21988832;23157875;21185205;21899732;21689002;21822774;21982411;22073289;22056562;22584245;23189141;22623978;22928361;23312786;23505323;22403620;22464213;22474067;21524747;22079329;22122993;22344176;22143414;21765051;21892657;21909109;21943158;22003152;22122979;22265126;22286219;22399527;22339301;22464147;22850130;23455636;23129316;22679067;22916037;23181436;23118302;22414273;23039379 1071 H3BRJ9;P11597 AA999853;ABBA01025257;ABBA01025258;AC012181;AC023825;AF027656;AK291586;AK297699;AMYH01007694;AY008270;AY172980;AY422211;BC025739;BT020064;CH471092;M30185;M32998;M83573;NG_008952;NM_000078;U71187 AAA51977;AAA51978;AAB59388;AAB86604;AAD14876;AAG21822;AAH25739;AAO12735;AAR03500;AAV38867;ABW03330;BAF84275;BAG60057;EAW82896;EAW82897;NP_000069;P11597 Hs.89538 1792120;1792122;1792788;1792790;1792792;1792800;1792802;1792804;1792806;1792808;1792810;1847396;2146699;5126077 D16S3244;PMC137182P4;PMC137182P5;PMC164606P1;PMC164606P10;PMC164606P11;PMC164606P2;PMC164606P3;PMC164606P4;PMC164606P5;PMC164606P7;PMC164606P8;SHGC-6119;STS-M30185 BPIFF;HDLCQ10 BPI fold containing family F;OTTHUMP00000164380;cholesteryl ester transfer protein;lipid transfer protein I APPROVED protein-coding ENSG00000087237 1869 00325 118470;143470 REVIEWED 736531 CFD complement factor D (adipsin) The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. [provided by RefSeq, Jul 2008] 19 19 p13.3 810665 814624 + 859665 863624 + 1624328;1624324;1624327;1624344;1580863;6480464;6907045;7240710 10605043;14564690;2197880;8372111 1374388;162484;6459901;19344414;19336475;12477932;12080056;10971122;9145127;8289289;7592653;6987665;6821372;6776531;6383466;6363133;824769;19913121;20628086;16169070;19699327;2023254;19538214;21205667;21139680;22930722;22003108;21890473;21906983;22362762;21612582 1675 K7ERG9;P00746 ABBA01002605;AC112706;AJ313463;AK300963;AMYH01009205;AMYH01009206;BC034529;BC040146;BC051001;BC057807;BG573629;BI763909;CH471139;CR536575;DQ884409;M84526;NG_007274;NM_001928 AAA35527;AAH34529;AAH40146;AAH51001;AAH57807;ABI63376;BAG62588;CAC48304;CAG38812;EAW69588;NP_001919;P00746 Hs.155597 1651442;1687916;1790333;2129489;2138199 DF;RH11724;RH41791;RH66738;SGC35258 ADIPSIN;ADN;DF;PFD C3 convertase activator;D component of complement (adipsin);complement factor D;complement factor D preproprotein;properdin factor D APPROVED protein-coding ENSG00000197766 2771 00600 134350;613912 REVIEWED 1346060 CFDP1 craniofacial development protein 1 16 16 16 q22.2-q22.3 59621931 59761694 - 73885109 74024888 - 75327608 75467387 - 1580863;6480464 16189514;15489334;15231748;12477932;11992732;11831036;10415329;10350657;9602175;9006920;8125298;19844255;21832049;22939629;23152477;21946350;21139048;21890473;23000965;23284291 10428 H3BQ17;J3KT89;Q9UEE9 AB004907;AB009269;AB009270;AB009285;ABBA01058129;ABBA01058130;ABBA01058131;ABBA01058132;ABBA01058133;ABBA01058134;AC009054;AC009163;AK226031;AK313948;AMYH01007820;AMYH01007821;AW160432;BC000991;BT009819;CH471114;CR542111;D85939;D86549;NM_006324 AAH00991;AAP88821;ABM81924;ABW03375;BAA20069;BAA20070;BAA31860;BAA31864;BAA31865;BAA31867;BAG36666;CAG46908;EAW95647;EAW95648;EAW95649;NP_006315;Q9UEE9 Hs.461361 1681857;1770289;2163782;2177192;5093058 A009E48;D16S3326;G32494;RH47797;SHGC-6782 BCNT;BUCENTAUR;CENP-29;CP27;SWC5;Yeti;p97 OTTHUMP00000174955;centromere protein 29;craniofacial development protein 1;phosphoprotein (Bucentaur) protein-coding ENSG00000153774 1873 16282 608108 VALIDATED 1346225 CFHR1 complement factor H-related 1 This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009] 1 1 q32 195055484 195067942 + 196788861 196801319 + 1580863;6480464;7240710 22136554;19553609;19344414;19308255;18824548;18084039;18039838;18006700;17538892;17438673;17367211;16998489;16710414;16335952;16239506;15557185;15489334;12477932;10781834;10408366;10380701;8663389;8172644;1826708;1825108;1711047;22786770;20581873;19913121;20628086;19435718;19531976;19745068;19861685;20008295;20059470;20237496;20855886;21399633;20865640;20843825;22848687;23071278;21637784;22247456;21677636;21850184;21677662;21856016;21988832;23728178;20301541;22558131;22626820;23028341 3078 B1AKG0;Q03591 ABBA01044657;AI075816;AK290830;AL049741;AMYH01001618;BC016755;BC107771;BG568702;HC920155;M65292;M65293;NG_013060;NM_002113;X56209;X56210 AAA35946;AAA35947;AAH16755;AAI07772;ABM83688;ABM86991;BAF83519;CAA39666;CAA39667;CBN73473;NP_002104;Q03591 Hs.575869 1695018 G44722 CFHL;CFHL1;CFHL1P;CFHR1P;FHR1;H36-1;H36-2;HFL1;HFL2;MGC104329 FHR-1;H factor (complement)-like 1;H factor (complement)-like 2;H-factor-like 1;H36;OTTHUMP00000034408;OTTHUMP00000034409;complement factor H-related 1 pseudogene;complement factor H-related protein 1;h factor-like protein 1 APPROVED protein-coding ENSG00000244414 4888 00602 134371;235400;603075 REVIEWED 1353869 CFH complement factor H This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011] 1 1 q32 194887764 194983257 + 196621008 196716634 + 1599886;1599888;1580863;5684553;5684557;5684551;5684552;5684556;5684555;5684554;6480464;6907045;7240710 10577907;12911541;21871809;19828624;22171659;22019782;20351616;21618592;21637784 22182977;22153652;20301541;21640790;21659506;21881555;22136554;22320225;22355348;22426290;22293892;22259222;22197220;22253316;9312129;19541934;19508377;19428307;19399715;19351878;19344414;19336475;19336370;19308255;19299737;19242507;19204088;19202148;19197355;19187823;19187590;19169232;19169230;19168221;19166692;19162324;19144569;19124749;19112495;19098018;19092117;19091853;19076828;19074778;19050261;19048105;19047406;19019939;19454698;19029036;19005013;19003634;19001225;19000922;18996904;18979363;18976665;18939352;18936151;18855541;18852870;18824548;18787502;18786923;18784628;18766990;18762075;18718667;18704199;18682812;18682806;18676680;18658028;18627285;18604638;18596911;18566420;18541031;18538409;18515590;18502988;18493315;18461138;18452766;18436811;18433936;18423869;18422436;18421087;18413232;18406463;18378209;18362109;18340363;18336910;18325906;18316707;18292785;18292760;18292569;18268093;18263814;18248681;18235085;18235016;18223247;22471560;22694956;18211923;18203751;18183578;18164066;18163432;18162041;18161619;18093091;18067970;18054635;18050121;18039838;18006700;18005991;17999207;17995985;17973958;17962488;17915330;17877809;17869048;17846371;17846368;17767156;17724217;17699195;17697822;17679948;17631852;17599974;17591866;17591627;17591618;17580967;17562771;17558024;17483111;17472578;17464302;17456821;17442969;17438673;17438519;17426452;17399790;17398321;17396242;17362990;17360715;17352366;17339482;17314151;17306880;17293598;17285240;17266113;17241667;17229916;17210858;17210852;17210851;17208302;17198853;17167412;17157600;17151483;17137217;17132743;17079491;17076561;17056561;17022693;17003406;17000705;16954704;16936733;16936732;16936129;16936080;16909242;16889549;16885922;16877387;16865697;16849663;16828512;16816528;16787919;16785547;16774956;16754848;16751403;16730735;16723442;16710702;16710414;16642439;16630992;16621965;16541016;16533809;16528247;16519819;16470555;16431947;16386793;16379025;16341674;16335952;16310045;16300415;16299065;16267773;16263173;16229850;16192651;16174643;15895326;15870199;15784724;15761122;15761121;15761120;15754282;15749837;15634279;15557185;15489334;15342556;15331938;15163532;14974950;14760718;14702039;14638802;14583443;12960213;12630812;12477932;12471127;12424708;12391176;12020532;11921353;11851332;11825898;11644971;11367533;11170896;11170895;11158219;11116141;10803850;10781834;10762557;10490997;10380701;10377245;9988761;9558116;9551389;9291131;8663389;8331663;8125298;6215918;3782802;2977721;2968949;2968404;2963625;2952588;2946589;2937845;2889480;2529127;2527799;2445583;1829116;1828229;1826708;1826264;1533152;1401896;7535292;7893437;7590866;7492444;7576914;17959597;16905558;20843825;20394361;21106043;20504767;20581873;19913121;20574013;20576771;20588308;20595690;20605213;20606025;20622116;20626361;20628086;20664795;20678803;20688737;20694013;20708732;22491393;22875704;20385826;21111031;21158586;21402993;19009024;19015224;19117936;19170196;19259132;19503104;19505474;19505476;19531976;19540598;19549636;19567623;19568762;19625176;19646183;19680263;19680273;19692124;19692168;19703145;19704120;19796758;19797206;19822851;19822855;19823576;19825847;19833879;19835885;19845562;19850343;19850835;19850925;19861685;19878322;19899988;19948975;19951950;20007824;20008295;20038862;20042647;20042653;20059470;20106822;20132989;20157618;20161521;20181037;20237496;20238042;20299368;20304497;20346514;20378178;20378180;20381870;20385819;20513133;20523265;20538655;20660596;20869121;21153520;20855886;20513355;20580090;19306911;20534299;20730046;20823202;21163532;21167605;20736788;20801516;20841369;20861866;20881291;20888482;20301598;20703214;22487577;22669321;22840423;22977134;23017427;23071278;20127520;21882633;21339361;20878164;21146613;21270465;20163251;21399633;20865640;20865641;11367528;11367530;11446651;11446652;16170519;16919753;17548524;18070148;18081690;18081691;18190458;19025119;19388158;20385334;20646335;20658973;20711705;20863311;8172644;21325619;21396937;21435440;22905135;22848687;20734203;21665990;20854881;21743006;21282580;21397333;21503575;21574022;21697597;21232084;21531728;21896867;21793561;21555552;23233260;22302353;22969267;23112567;21642625;21825189;22022419;22140259;21930971;21677636;21868097;18624398;22059990;21717289;21856016;21979047;21649859;22876110;22933840;23195022;23376722;23390291;21558292;21936007;22065918;22065928;23070659;23337555;21816153;22628306;21695352;21790300;21817962;22035603;22104107;22133792;22088229;22705344;22526676;22570352;22514678;22300950;23494043;22486323;22786770;22936692;23098369;23455636;15174051;21988832;23110143;23365078;23497844;23028341;23326517;23381943;18627465;23111182;23235567;23332154;23365660;23423485;23209669;22815489;22922817;22956584;22965593 3075 F8WDX4;Q5TFM2;Q9NU86 ABBA01027599;ABBA01027600;ABBA01027601;ABBA01027602;AI568119;AK225649;AK226113;AK291395;AL049744;AMYH01001618;BC012610;BC037285;BC073982;BC110643;BC142699;BM842566;BP324193;CH471067;DQ233256;M12383;M17517;M65294;NG_007259;NM_000186;NM_001014975;U56979;X04697;X07523;Y00716;Z29665 AAA35948;AAA52013;AAA52016;AAB01987;AAH37285;AAI10644;AAI42700;ABB02180;ADZ15369;BAF84084;CAA30403;CAA68704;CAA82763;CAB41739;EAW91260;EAW91261;NP_000177;NP_001014975;P08603 Hs.363396 1334539;1664903;1694712;1695018;1774761;2166826;5107623;5115277 AL009841;D1S2816;D1S3541;G16258;G43547;G44722;SGC31488;SHGC-76080 AHUS1;AMBP1;ARMD4;ARMS1;CFHL3;FH;FHL1;HF;HF1;HF2;HUS;MGC88246 H factor 1 (complement);H factor 2 (complement);OTTHUMP00000033598;OTTHUMP00000034106;adrenomedullin binding protein;age-related maculopathy susceptibility 1;beta-1-H-globulin;beta-1H;complement factor H;complement factor H, isoform b;factor H;factor H-like 1 APPROVED protein-coding ENSG00000000971 4883 00601 126700;134370;235400;609814;610698 REVIEWED 1606035 CFHR2 complement factor H-related 2 1 1 1 q31.3 170027001 170053828 + 195179557 195194979 + 196912934 196928356 + 6480464 18541031;17438673;16710414;15489334;12477932;10380701;8172644;7672821;1711047;1533657;20059470;20237496;21832049 3080 P36980 ABBA01027597;AL139418;AMYH01001618;BC022283;BG566607;CH471067;HC920157;NM_005666;X64877;X86564;X86565;X86566;X86567 AAH22283;ABM82331;ABM85508;CAA46096;CAA60375;CBN73474;EAW91267;NP_005657;P36980 Hs.632450 1651893;2157522;2217420 HFL3_2992;RH79164;SHGC-76083 CFHL2;FHR2;HFL3 DDESK59;FHR-2;H factor (complement)-like 3;OTTHUMP00000034673;complement factor H-related protein 2;factor H-related gene 2;h factor-like 3;h factor-like protein 2 protein-coding ENSG00000080910 4890 02933 600889 VALIDATED 1351940 CFHR4 complement factor H-related 4 This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011] 1 1 q32 195123835 195154386 + 196857144 196887843 + 1580863 9038172;19084272;18541031;17438673;15562282;15489334;12477932;10622723;10380701;9476126;19861685;20042240;20059470;20181037;20237496;21399633;21637784;22518841;18624398;20301541;23381943 10877 B1ALQ8;Q5DVJ7;Q92496 ABBA01027598;AF190816;AJ640130;AK292752;AL049741;AL139418;AMYH01001618;BC074957;BX248415;CH471067;HC920161;NG_028159;NM_001201550;NM_001201551;NM_006684;X98337 AAF05951;AAH74957;BAF85441;CAA66980;CAG26679;CBN73476;EAW91265;EAW91266;NP_001188479;NP_001188480;NP_006675;Q92496 Hs.710100 1651050;2217330;5106175 FHR-4_2982;SHGC-76076;SHGC-76077 CFHL4;FHR-4;FHR4;RP4-608O15.2 OTTHUMP00000034809;OTTHUMP00000034810;complement factor H related 4;complement factor H-related protein 4;factor H-related gene 4 APPROVED protein-coding ENSG00000134365 16979 05627 605337 REVIEWED 1349136 CFL1P3 cofilin 1 (non-muscle) pseudogene 3 1 1 1 p31.3 62598529 62599345 - 64081450 64081945 - 64308662 64309478 - 100131874 ABBA01074566;AL161742;AMYH01000677;NG_008819;NG_032801 1751889 SHGC-105854 CFLL3;CFLP3 APPROVED pseudo 1879 INFERRED 1342616 CFHR3 complement factor H-related 3 The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 1 1 q32 195010553 195029496 + 196743930 196763203 + 1580863;6480464;7240710 16998489;8428964;19553609;18084039;18006700;17438673;17367211;16710414;15489334;12477932;10781834;10622723;10380701;8172644;20581873;20592223;20694013;19531976;19861685;20059470;20237496;17207965;21399633;20843825;21637784;22626820;21850184;21677662;21856016;21988832;22558131;22058112;20301541;23028341;22848687 10878 Q02985;Q6NSD3 ABBA01044650;ABBA01044651;ABBA01044652;ABBA01044653;AK298459;AL049741;AMYH01001618;BC020680;BC020687;BC058009;BC070259;BG618529;CH471067;HC920159;NG_015993;NM_001166624;NM_021023;X68679 AAH20687;AAH58009;AAH70259;ADQ32035;BAG60672;CAA48639;CBN73475;EAW91262;EAW91263;EAW91264;NP_001160096;NP_066303;Q02985 Hs.709217 1651050;2108097;2217330 FHR-3_7981;FHR-4_2982;SHGC-76077 CFHL3;DOWN16;FHR-3;FHR3;HLF4 H factor-like 4;H factor-like protein 3;OTTHUMP00000034107;OTTHUMP00000230947;complement factor H-related protein 3 APPROVED protein-coding ENSG00000116785 16980 05626 235400;603075;605336 REVIEWED 1344248 CFL1P5 cofilin 1 (non-muscle) pseudogene 5 5 5 q13.2 65611206 65612300 - 68608686 68609780 - 1074 ABBA01048278;AC145132;AC145145;AMYH01015146;NG_008755 CFLL1;CFLP5 APPROVED pseudo 1877 INFERRED 1351791 CFL1P4 cofilin 1 (non-muscle) pseudogene 4 1 1 1 q43 215412250 215412927 + 240189989 240223608 + 242156508 242157185 + 645980 ABBA01033264;AMYH01001875;BX571673;NG_008824 1779926;2130063 G16216;SHGC-154177 CFLL4;CFLP4 APPROVED pseudo 1880 INFERRED 5131386 CFL1P7 cofilin 1 (non-muscle) pseudogene 7 3 3 p24 25301917 25302393 + 25365610 25367268 + 100505919 ABBA01025020;AC098477;AMYH01013035;NG_028939 pseudo 39959 INFERRED 6483487 CFL1P6 cofilin 1 (non-muscle) pseudogene 6 1 p36.22 11045887 11051854 - 22327514 390996 ABBA01003030;ABBA01003031;AL358492;AMYH01000251;NG_032826 CFLP6 pseudo 34545 INFERRED 1349932 CFL1P2 cofilin 1 (non-muscle) pseudogene 2 1 1 1 p32.3 49909845 49910740 - 51396105 51397091 - 51623317 51624212 - 391039 ABBA01074813;AL162430;AMYH01000610;NG_008615 CFLL2;CFLP2 APPROVED pseudo 1878 INFERRED 1349013 CFHR5 complement factor H-related 5 This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010] 1 1 q31.3 195213327 195245429 + 196946667 196978804 + 1580863;6480464 11058592;19365580;19344414;18541031;17438673;17000000;16344560;16299065;15879123;15489334;12477932;12041828;11774097;11414752;20059470;20237496;20513133;20800271;21399633;23402027;21566112;22065842;20301598;23381943;23235567;22622361 81494 Q5VYL6;Q9BXR6 ABBA01027596;ABBA01027597;AF295327;AK314026;AL139418;AL353809;AMYH01001618;BC026282;BC111773;BG568555;CH471067;DA638244;HC920163;NG_016365;NM_030787 AAH26282;AAI11774;AAK15619;BAG36736;CBN73477;EAW91268;NP_110414;Q9BXR6 Hs.282594 CFHL5;CFHR5D;FHR-5;FHR5;FLJ10549;MGC133240 OTTHUMP00000034672;complement factor H-related protein 5;factor H-related protein 5 APPROVED protein-coding ENSG00000134389 24668 06508 608593;614809 REVIEWED 1353551 CFLAR-AS1 CFLAR antisense RNA 1 2 q33 202005012 202022515 - 11586298 65072 AB053312;ABBA01062535;ABBA01062536;AC007283;AMYH01011403;NR_040030 Hs.664613 ALS2CR10 APPROVED miscrna ENSG00000226312 14437 VALIDATED 6481574 CFL1P8 cofilin 1 (non-muscle) pseudogene 8 13 100234962 100235420 + 100873812 ABBA01027117;AL139035;AMYH01005326;NG_032369 pseudo 39960 INFERRED 1344573 CFM1 cystic fibrosis modifier 1 7240710 8589719 10167 1730105 D19S112 1881 603855 1353272 CFM2 cystic fibrosis modifier 2 23727 1882 1348885 CFNS craniofrontonasal syndrome (craniofrontonasal dysplasia) 7240710 9302274 1883 304110 1603578 CFL1P1 cofilin 1 (non-muscle) pseudogene 1 10 10 10 q23.31 83324551 83351850 + 89567950 89594928 + 89578070 89605369 + 12477932 142913 ABBA01021961;AC022016;AMYH01002932;BC031631;NR_028492 ABM82205;ABM85393 Hs.369431 1340411;1787314 D10S1765;SHGC-152843 CFLP1;MGC35136 APPROVED pseudo ENSG00000223820 28560 VALIDATED 1350199 CFTRP1 cystic fibrosis transmembrane conductance regulator pseudogene 1 20 20 20 p11.1 25917112 25917494 - 25848035 25848417 - 25900036 25900418 - 140871 ABBA01004278;AL078587;AMYH01011802;NG_002787 C20orf189;dJ760C5.1 APPROVED pseudo 16182 INFERRED 736809 CFI complement factor I This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. [provided by RefSeq, Jul 2008] 4 4 q25 110881297 110942783 - 110661848 110723335 - 1580863;6480464;6906892;6907045;6906889;7240710 18202746;15173250 22223611;2956252;8604219;19423168;19065647;18825487;18805611;18701018;18685559;18658028;18566438;18544012;18374984;18029348;17599974;17597211;17548110;17482181;17320177;17106690;17067565;17055788;17018561;16920989;16621965;16386793;16335952;15835912;15342556;15210795;14967308;14761935;14760718;14702039;12477932;9605165;9479036;9291131;8613545;7672128;2954545;2563353;1401896;8648130;22258234;22393059;19661236;19693526;19861685;19877009;20016463;20044478;20059470;20087399;20106822;20332099;20379614;20385819;20513133;20888482;20385826;21316765;22710145;21665990;21768352;22705344;22594569;21936007;23455636;22514678;20301541;22678500;22926405;23235567 3426 A8K3L0;D6R9Z8;E7ETH0;G3XAM2;P05156 ABBA01063783;ABBA01063784;ABBA01063785;AC126283;AF005095;AK122686;AK290625;AK299232;AMYH01014458;BC005275;BC020718;BM955734;BP235907;CH471057;DC392360;J02770;N63668;NG_007569;NM_000204;Y00318 AAA52455;AAC08733;AAH20718;BAF83314;BAG61264;CAA68416;CAA68417;CAA68418;EAX06250;EAX06251;EAX06252;NP_000195;P05156 Hs.312485 1646504;1662211;1772871;2127541;2129609;2179996;2217476;5126461 D4S3129;G33805;IF_2671;SHGC-19817;SHGC-19819;SHGC-19821;SHGC-59752;SHGC4-316 AHUS3;C3BINA;C3b-INA;FI;IF;KAF C3B/C4B inactivator;C3b-inactivator;Konglutinogen-activating factor;OTTHUMP00000219728;OTTHUMP00000221928;complement component I;complement control protein factor I;complement factor I;complement factor I heavy chain;light chain of factor I APPROVED protein-coding ENSG00000205403 5394 01955 217030;610984;612923 REVIEWED 1351942 CGB chorionic gonadotropin, beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 q13.32 54217939 54219405 - 49526126 49527632 - 1580863;6480464 6690982;7723844;6194155;10468638;19106261;19003798;19002615;18802946;18782867;18758818;18752498;18606016;18578862;18577995;18339208;18217981;18048458;18022169;17761764;17437322;17143726;17141398;17139196;17097221;17059865;17045394;16924466;16651852;16632463;16543672;16323172;16007123;15718290;15048184;15004409;12594819;12569177;12477932;12419040;12242028;12175153;11861891;11266609;10715549;10563789;9578495;9542977;8202136;7922031;7513655;7251865;6774259;6319099;6204923;6196363;6160572;3098775;2536708;2468994;2452822;2424697;2422163;2254302;1820200;1510839;1442929;1371113;2447154;22148978;20949592;1688430;18240029;19005764;19131508;19290844;19501580;19624411;19846218;20065111;20619452;20421278;20654692;4368999;20872871;22554618;21388678;21707946;22811468;21360554;23424616;21832049;21463216;21719003;21827674;21799854;21592960;21222045;22367671;22365285;23136239;23499152;23011731;23285091;23396945 1082 Q8WXL1 ABBA01032950;AC008687;AK291552;AMYH01009908;BC022796;BC069526;BC106059;BX334905;CH471177;J00117;K03181;K03189;M13504;NM_000737 AAA52005;AAA53288;AAA96690;AAH22796;AAH69526;AAI06060;ABM83058;ABM86252;BAF84241;EAW52434;NP_000728;P01233 Hs.446683;Hs.743279 5022065;5110657;5121175;5493027 D19S1130;RH71426;STS-J00117;UniSTS:483811 CGB3;CGB5;CGB7;CGB8;hCGB CG-beta;choriogonadotropin subunit beta;chorionic gonadotrophin chain beta;chorionic gonadotropin beta 3 subunit;chorionic gonadotropin beta chain;chorionic gonadotropin beta subunit APPROVED protein-coding ENSG00000104827 1886 00343 118860 REVIEWED 1351689 CFP complement factor properdin This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009] X X p11.4 47368569 47374648 - 47483612 47489704 - 1580863;6480464 8530058;162484;15199963;19204726;19005416;18791942;18753294;18579773;18490764;16344560;16337490;16335952;15772651;15489334;14702039;12493642;12477932;12096136;11513971;11090881;10909851;10878002;10861231;9710744;9127010;8871668;7151327;6900901;3421908;3140783;2570030;2009915;1783405;1431505;1417780;8630395;7911492;7893437;7590866;11733037;22851705;19913121;20628086;20530262;19934084;19584655;20122735;22338105;20382442;20337960;21135110;22229731;22368277;19322201;22815489 5199 C9J7V5;E9PAQ1;P27918 ABBA01052388;AF005664;AF005665;AF005666;AF005668;AK122955;AK310695;AL009172;AMYH01022264;AY297813;BC015756;CH471164;DB146591;M83652;NG_009893;NM_001145252;NM_002621;X57748;X70872 AAA36489;AAB62886;AAB63279;AAB63280;AAC51626;AAH15756;AAP43692;ABM84386;ABM87309;BAG53818;CAA40914;CAA50220;EAW59317;EAW59318;EAW59319;EAW59320;NP_001138724;NP_002612;P27918 Hs.53155 1680573 RH93309 BFD;PFC;PFD;PROPERDIN OTTHUMP00000023223;OTTHUMP00000216155;complement factor P;properdin;properdin P factor, complement APPROVED protein-coding ENSG00000126759 8864 02308 300383 REVIEWED 1315906 CFL2 cofilin 2 (muscle) This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 14 14 q12 34249343 34253657 - 35179588 35184029 - 1580863;6480464;7240710 20347121;16189514;18928553;17160903;17081983;16530787;16344560;15951569;15489334;12684437;12477932;12049672;11827452;11809832;11422377;10461190;9655398;8889549;8824278;8800436;16526095;19752190;20801873;22560515;23463506;22939629;21894436;21890473;21906983;22158895;20301465;22450169;23398456;20639865;21139048;21963094;21987572;22053931;23000965;23395798;17572668;18775311;18808680;19683683;20842205;21853274;22505724 1073 F8WDN3;G3V2U0;Q549N0;Q9Y281 ABBA01061483;AF087867;AF134802;AF134803;AF242299;AF283513;AI754134;AK314157;AL117457;AL355885;AL599958;AMYH01005661;BC011444;BC022364;BC022876;BC025683;CB992605;CH471078;DA298739;DA897112;DB378917;NG_012740;NM_001243645;NM_021914;NM_138638;NR_028130;NR_028131 AAD31280;AAD31281;AAF64498;AAF97934;AAH11444;AAH22364;AAH22876;AAM10495;ACE87051;ACE87733;BAG36842;EAW65908;EAW65910;EAW65911;EAW65912;NP_001230574;NP_068733;NP_619579;Q9Y281 Hs.180141 1697704;1736408;1783022;2152343;2187462;2190519;5123523;7185251;7185254 D14S1299;D14S1319;D14S664E;EST14A7;RH102370;RH44744;SHGC-132145 NEM7 OTTHUMP00000178805;OTTHUMP00000178806;OTTHUMP00000244200;OTTHUMP00000244201;cofilin, muscle isoform;cofilin-2;nemaline myopathy type 7 APPROVED protein-coding ENSG00000165410 1875 03262 601443;610687 REVIEWED 1347509 CFLAR CASP8 and FADD-like apoptosis regulator The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011] 2 2 q33-q34 201689135 201737260 + 201980877 202037411 + 1580863;4143170;4143196;4143171;6480464;6484113;6907045 17403612;19239902;19961901 11741985;9217161;9208847;12761501;19433309;19339247;19321593;19282655;19249545;19243385;19223508;19203346;19177145;19161534;19115040;19109151;19090833;18840411;18838202;18823309;18820704;18767116;22072062;22266862;22288650;22322857;22345097;22504646;17272514;17106251;17070520;17056549;17003335;16901543;16740746;16720717;16611896;16472594;16441226;16436054;16403915;16304056;16298825;16247474;16211288;16077198;16052516;16052233;16014121;15956881;15917295;15899875;15886205;15864316;15843523;15832422;15815586;15761846;15760909;15731171;15722350;15701651;15701649;15686714;15653751;15644494;15557152;15540114;15489334;15485835;15459191;15354734;18726983;18603835;18593367;18509086;18414015;18398344;18391984;18339897;18314443;18264131;18257744;18243739;18189268;18084329;18073330;17988665;17982483;17932249;17922291;17912957;17762208;17726263;17697742;17659339;17646662;17638906;17581950;17573774;17559541;17513603;17450141;17440816;17376892;22027693;15334061;15304499;15297424;15273717;15258564;15183989;15096587;15078899;15024054;14759258;14662022;14637155;14578361;14562111;13679070;12820373;12746452;12716387;12592338;12574377;12556488;12552004;12496482;12496481;12496285;12477972;12477932;12432255;12407100;12393527;12215447;12115181;12097160;12060768;12031968;11965497;11940602;11877293;11830587;11193041;11161814;11002417;10837247;10227994;10200473;10069390;9990034;9880531;9575181;9380701;9326610;9325248;9289491;9228018;9219695;9211860;18559494;9560245;10329646;12887920;17353931;12220669;21307400;21324892;19949310;17441421;16712791;20372864;20218968;20568250;20802294;21048031;20876774;8889548;20975036;20224598;19798106;19816511;20335528;16246840;16537561;19913121;20595005;20628086;20628624;20689807;20696707;17110930;17159907;18202225;19343040;19363595;19372246;19398149;19409438;19439735;19476635;19543235;19573080;19604093;19710364;19728335;19734124;19773279;19802016;19890350;19896469;19906927;19956887;20016063;20087343;20227749;20449949;20453000;20508645;21153369;21435442;21856935;21562857;20484045;21454681;20812013;23235765;21071136;22781394;23322903;20882347;21403465;21474069;21525012;21691254;21868755;20561424;21803845;21107885;21480219;23319802;19808964;20876284;21737329;21912376;22948392;22393362;21890473;22190004;22219201;21638304;17047155;21822306;21988832;23255321;19838173;22683265;22884570;23230268;22126763;15280356;23519470;21394196;21483669;23167276;22753273;22864571;23028678;23142077;23256568 8837 B4E361;C9J408;C9J4Q0;C9JK38;C9JSU3;C9JV51;E9PAP3;F8WBH9;M0QY57;M0QYM0;M0R1A8;Q54AF1 AB038972;AB209600;ABBA01062535;ABBA01062536;AC007283;AF005774;AF005775;AF009616;AF009617;AF009618;AF009619;AF010127;AF015450;AF015451;AF015452;AF041458;AF041459;AF041460;AF041461;AF041462;AK124664;AK125394;AK289913;AK296036;AK297387;AK304585;AK308767;AK315208;AK315924;AL365413;AMYH01011402;AMYH01011403;BC001602;BM969271;BT006751;BX457155;CB148618;CD699251;CH471063;DC321068;JA362598;NG_029005;NM_001127183;NM_001127184;NM_001202515;NM_001202516;NM_001202517;NM_001202518;NM_001202519;NM_003879;U85059;U97074;U97075;Y14039;Y14040 AAB64110;AAB70909;AAB70910;AAB70911;AAB70912;AAB82648;AAB99790;AAB99791;AAB99792;AAB99793;AAB99794;AAC15825;AAC15826;AAC16439;AAC16440;AAC16441;AAC51622;AAC51623;AAH01602;AAP35397;AAY24290;ABM84686;ABM92209;BAB32551;BAB32552;BAD92837;BAF82602;BAG37645;BAG58802;BAG59828;BAG65373;BAH14295;CAA74366;CAA74367;CCA94581;EAW70235;EAW70236;EAW70237;EAW70238;EAW70239;EAW70240;EAW70241;EAW70242;EAW70243;EAW70244;EAW70245;NP_001120655;NP_001120656;NP_001189444;NP_001189445;NP_001189446;NP_001189447;NP_001189448;NP_003870;O15519 Hs.390736;Hs.731912 1668316;1676872;1680723;1697558;1709896;1728873;1846981;1849295;1857500;2182226;2190981;2217146;5015615;5016596;5020274;5021872;5024736 A008B37;CFLAR_2686;D11S3076;D2S2141;G54454;GDB:631802;L18441;MARC_12239-12240:1005141928:1;RH102289;RH45502;RH68847;RH79734;RH79972;RH98318;SHGC-84793;WI-12098;sY3084 CASH;CASP8AP1;CLARP;Casper;FLAME;FLAME-1;FLAME1;FLIP;I-FLICE;MRIT;c-FLIP;c-FLIPL;c-FLIPR;c-FLIPS CASP8 and FADD-like apoptosis regulator;FADD-like anti-apoptotic molecule;FADD-like antiapoptotic molecule 1;MACH-related inducer of toxicity;OTTHUMP00000163715;OTTHUMP00000206475;OTTHUMP00000206476;OTTHUMP00000206478;OTTHUMP00000206479;OTTHUMP00000206480;OTTHUMP00000206482;OTTHUMP00000207360;caspase homolog;caspase-eight-related protein;caspase-like apoptosis regulatory protein;caspase-related inducer of apoptosis;cellular FLICE-like inhibitory protein;inhibitor of FLICE;usurpin beta APPROVED protein-coding ENSG00000003402 1876 04671 603599 REVIEWED 619566 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] 7 7 q31.2 116907253 117095955 + 117120017 117308719 + 1599599;734772;1580863;1599596;1599598;2307071;2314614;2317156;2317157;4140482;4140442;4140430;4140422;4140475;4140453;4140473;4140481;4140450;4140431;4140457;4140464;4140465;4140389;4140448;4139905;4139907;4140445;4140484;4140392;4140395;4140428;4140433;4140439;4140440;4140441;4140390;4140401;4140468;4139910;4140387;4140394;4140393;4140397;4140446;4140447;4140436;4140438;4140429;4140435;4140477;6480464;6907045;7240710 14975182;11823443;15905414;15605366;18988797;16804061;16227367;17072959;11243954;1379413;18703788;19620404;15463907;16678503;15781764;11504703;11732487;18652532;12123489;9439669;9429141;20015999;8535440;20722470;20622026;7521937;10767489;17099022;19858235;7560099;18450781;1283149;1380943;1381442;19952026;9254853;9272157;1380723;20298391;2344617;19880712;19843100;7539891;7543317;1370365;1284535;19202204;17902144;11773581 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ABC35;ABCC7;CF;CFTR/MRP;MRP7;TNR-CFTR;dJ760C5.1 ATP-binding cassette sub-family C member 7;ATP-binding cassette transporter sub-family C member 7;OTTHUMP00000024694;OTTHUMP00000196524;cAMP-dependent chloride channel;channel conductance-controlling ATPase;cystic fibrosis transmembrane conductance regulator;cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7) APPROVED protein-coding ENSG00000001626 1884 03883 167800;211400;219700;277180;602421 REVIEWED 732970 CFL1 cofilin 1 (non-muscle) The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004] 11 11 q13 65378858 65382380 - 65622282 65625804 - 1580863;6480464 20471030;8195165;8037689;7552146;2263493;16526095;12963706;16169070;14607843;17196218;17088134;17081983;16964243;16916647;16456544;16396496;16301112;16189514;16061204;15952740;15816841;15719172;15671020;15660133;15647284;15598710;15592455;15489334;15485906;15213453;15159416;14733918;14718574;14702039;14634665;14627701;12904289;12837278;12791392;12684437;12665801;12477932;12359716;12323073;12207032;12049672;11950878;11925442;11832213;11812157;11747431;11707283;11418599;11340065;11294912;11139403;11090694;10613909;10366597;9655398;8892894;8889548;8824278;8806458;8800436;8482351;12361576;16713569;17353931;10436159;16130169;19223396;19110265;19000834;18987670;18952063;18937355;18809681;18775311;18716285;18096821;17583572;17352815;15161933;21894436;21900206;20646534;19997845;20729910;20095995;20564088;20472933;16548883;19339277;19403692;19483084;19546591;19556892;19567672;19654210;19683683;19734890;19802004;20133759;20381070;20558337;20676060;20819441;20713416;20029029;21045147;20838616;20873970;21571222;21237490;22270398;22742733;21179570;21647301;21735353;21723825;17500066;23362981;23402259;23463506;16278681;21163940;22863883;22939629;22990118;20000738;21875597;21800051;18781797;20639865;21923909;21987572;17620599;19471022;22145905;21139048;21890473;21906983;22345165;21469165;15220930;16009940;20473970;21044950;22450169;22212282;16815975;21319273;22623803;23320827;23398456;23227181;17110338;19738201;19805454;21963094;22053931;22304920;22623428;22623727;23000965;23106098;23184937;23338717;23395798;17572668;18808680;20147394;20842205;21853274;22505724;22537596;22952844;22689060 1072 E9PK25;E9PLJ3;E9PP50;E9PQB7;E9PS23;G3V1A4;P23528 ABBA01024098;AK097690;AMYH01003727;AP001266;BC011005;BC012265;BC012318;BC018256;BC024975;BT006846;CB850882;CH471076;D00682;NM_005507;U21909;X95404 AAA64501;AAH11005;AAH12265;AAH12318;AAH18256;AAP35492;ABM82695;ABW03425;BAA00589;BAG53513;CAA64685;EAW74448;EAW74449;EAW74450;EAW74451;EAW74452;NP_005498;P23528 Hs.170622 2146547;5125074;5491593 MARC_23793-23794:1027526010:3;RH48139;RH79826 CFL 18 kDa phosphoprotein;OTTHUMP00000233679;OTTHUMP00000233680;OTTHUMP00000233681;OTTHUMP00000233682;OTTHUMP00000233740;OTTHUMP00000233741;OTTHUMP00000233742;cofilin 1;cofilin, non-muscle isoform;cofilin-1;p18 APPROVED protein-coding ENSG00000172757 1874 03261 601442 REVIEWED 1344268 CGF1 cognitive function 1, social 7240710 9192895 1083 2124254;2136776 DXS538;DXS7 1887 1348590 CGA glycoprotein hormones, alpha polypeptide The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 q12-q21 87851941 87861543 - 87795216 87804865 - 1580863;2293635;2293633;2293636;2293634;2293637;6480464;6907045 11687975;16007123;2473429;12180238;6768680 16311298;15662415;15637148;15489334;15304512;15231748;15004409;14726442;14607569;14585810;12963710;12960071;12920232;12615827;12569177;12477932;12237895;12164786;11900895;11893904;11775891;11266609;11261589;11222739;10821673;10563789;10373373;10342833;9578495;8898911;8202136;8196184;7922031;7679977;7544284;7462224;7410374;6774759;6581542;6286817;6207569;6189397;5065401;5002675;4835135;4745444;3839756;2708337;2611225;2536708;2481154;2449427;1991473;1158880;481597;19344190;18676680;18313839;18206295;18079192;18068163;18063683;18022169;17761764;17690166;17609437;17261286;17143726;17112680;17097221;17045735;16950818;16543672;16461985;1150658;890569;172504;16169070;1191677;1688430;18240029;19054012;19131506;19136570;19170196;19196802;19383238;19574343;19598235;19625176;19667278;19692168;19730683;19846218;19880179;19929279;20379614;20634197;20660299;17207965;20734064;20600586;20826269;4368999;20575467;20352046;20400076;20718770;21114382;21159522;20455884;21149714;21763112;22128326;22278420;23423746;21838882;22446105;22391642;21623995;22061337;21981142;22386126;22354444;23345094;23380184;22811570 1081 P01215;Q6I9S8 AB019569;ABBA01040490;AI200485;AK311972;AL138827;AMYH01016492;BC010957;BC020782;BC055080;BG571584;BG619154;CH471051;CQ873162;CR457427;CS120867;EU081886;FJ624078;FJ624079;HI574172;J00152;NM_000735;NM_001252383;S70585;V00518 AAB30827;AAD13690;AAH10957;AAH20782;AAH55080;ABU96751;ACM91587;ACM91588;ADQ33203;BAG34911;CAA23777;CAG33708;CAH56879;CAJ15133;CBX47575;EAW48612;EAW48613;EAW48614;EAW48615;NP_000726;NP_001239312;P01215 Hs.119689 1664477;5122828 D6S1845;RH78136 CG-ALPHA;FSHA;GPHA1;GPHa;HCG;LHA;TSHA FSH-alpha;LSH-alpha;OTTHUMP00000016825;TSH-alpha;anterior pituitary glycoprotein hormones common subunit alpha;choriogonadotropin alpha chain;chorionic gonadotrophin subunit alpha;chorionic gonadotropin, alpha polypeptide;follicle-stimulating hormone alpha chain;follicle-stimulating hormone alpha subunit;follitropin alpha chain;glycoprotein hormones alpha chain;luteinizing hormone alpha chain;lutropin alpha chain;thyroid-stimulating hormone alpha chain;thyrotropin alpha chain APPROVED protein-coding ENSG00000135346 1885 00342 118850 REVIEWED 1348912 CGN1 conglutinin 1 1099 1904 1349143 CGB1 chorionic gonadotropin, beta polypeptide 1 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46406035 46407400 - 54230638 54232003 - 49538826 49540191 - 17055150;12477932;11368883;11181995;8954017;6690982;6319099;6209613;6204923;6194155;2468994;2422163;1371113 114335 A6NKQ9;J3QT02;M0R2Z1 ABBA01032948;AC008687;AMYH01009908;BC107144;BC126460;CH471177;NM_033377;S80935 A6NKQ9;AAI26461;AAI72367;EAW52436;NP_203695 Hs.659014 5022065;5110657;5121175;5492733;5493389;5493633;5493945 D19S1130;RH71426;STS-J00117;UniSTS:480488;UniSTS:482158;UniSTS:485942;UniSTS:489972 OTTHUMP00000196561;choriogonadotropin subunit beta variant 1 APPROVED protein-coding 16721 12307 608823 REVIEWED 1351098 CGB7 chorionic gonadotropin, beta polypeptide 7 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 q13.32 54249343 54250809 - 49557531 49558997 - 1580863 2422163;15489334;14702039;11861891;10468638;9012484;8202136;7462224;7240231;6774259;6690982;6319099;6209613;6204923;6194155;4795659;2468994;2452822;2424697;1820200;1688430;1371113;1150658;22032922 94027 J3KP00;Q8WXL1 ABBA01032947;AC008687;AF397576;AF397577;AF397578;AF397579;AF397580;AK092722;AK125108;AMYH01009908;CH471177;K00092;K03182;K03183;M13503;M13505;NM_033142 AAA52008;AAA52009;AAA53287;AAI60150;AAL69704;AAL69705;AAL69706;AAL69707;AAL69708;EAW52439;NP_149133 Hs.681647;Hs.744474 5022065;5110657;5121175;5493027 D19S1130;RH71426;STS-J00117;UniSTS:483811 CG-beta-a;CGB6;FLJ35403;FLJ43118 chorionic gonadotropin beta 7 subunit;chorionic gonadotropin, beta polypeptide 7 APPROVED protein-coding ENSG00000196337 16451 12310 608826 REVIEWED 1352505 CGB2 chorionic gonadotropin, beta polypeptide 2 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46402337 46403702 + 54226942 54228307 + 49535130 49536495 + 17055150;12477932;11181995;8954017;6690982;6319099;6204923;6194155;2422163;1371113 114336 H9KV56;M0R0E6;Q6NT52 ABBA01032949;AC008687;AMYH01009908;BC069367;BC107143;CH471177;K03185;NM_033378 AAH69367;EAW52435;NP_203696;Q6NT52 Hs.567650 5022065;5110657;5121175;5492733;5493633;5493945 D19S1130;RH71426;STS-J00117;UniSTS:480488;UniSTS:482158;UniSTS:489972 OTTHUMP00000196560;choriogonadotropin subunit beta variant 2;product of CGB2 APPROVED protein-coding ENSG00000104818 16722 12308 608824 REVIEWED 1347768 CGB5 chorionic gonadotropin, beta polypeptide 5 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 q13.32 54238914 54240380 + 49547102 49548568 + 1580863 19173346;19047151;19002615;17510243;15309632;15299093;15285305;15253136;15217983;14715707;12914533;12511603;12477932;11893904;10373373;9578495;9012484;8202136;7922031;6690982;6319099;6209613;6204923;6194155;2708337;2611225;2536708;2468994;2452822;2424697;2422163;1371113;172504;22769733;20962020;20716560;20734064;21167905;23510993 93659 Q8WXL1 ABBA01032948;AC008687;AMYH01009908;BC006290;BC051378;BC103970;BC103971;BC106723;BC106724;BT006890;CH471177;NM_033043;X00265 AAH06290;AAH51378;AAI03971;AAI03972;AAI06724;AAI06725;AAP35536;CAA25068;EAW52437;NP_149032 Hs.172944 5022065;5110657;5121175;5493027 D19S1130;RH71426;STS-J00117;UniSTS:483811 HCG;MGC119822 chorionic gonadotropin beta 5 subunit;chorionic gonadotropin, beta polypeptide 5 APPROVED protein-coding ENSG00000189052 16452 12309 608825 REVIEWED 1343156 CGB8 chorionic gonadotropin, beta polypeptide 8 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 46418103 46419576 - 54242707 54244180 - 49550895 49552368 - 12477932;9012484;6690982;6319099;6209613;6204923;6194155;2468994;2452822;2424697;2422163;1371113 94115 J3KNZ1;Q8WXL1 ABBA01032948;AC008687;AMYH01009908;BC030994;BC103969;BC128603;BQ011275;BX118262;BX380841;CH471177;NM_033183 AAH30994;AAI03970;AAI28604;EAW52438;NP_149439 Hs.659014;Hs.743279 5022065;5110657;5121175 D19S1130;RH71426;STS-J00117 chorionic gonadotropin beta 8 subunit;chorionic gonadotropin, beta polypeptide 8 APPROVED protein-coding ENSG00000213030 16453 12311 608827 REVIEWED 1323740 CGN cingulin 1 1 1 q21 124599109 124626467 + 149750497 149777792 + 151483862 151511168 + 1580863;6480464 22889411;11042084;12529927;16710414;16083285;15866167;15342556;15324660;15146197;14702039;12665801;12477932;12023291;10877843;10718198;10613913;17353931;15778465;20086175;21139048;21890473;22245583;22318606;22586326 57530 A2A3M4;A6PVU7;H0Y4A8;Q9P2M7 AB037740;ABBA01049398;ABBA01049399;AF263462;AK290007;AL365436;AMYH01001389;BC146657;BC150604;BC152445;BP331021;BX647343;CH471121;CN359389;NM_020770 AAF74498;AAI46658;AAI50605;AAI52446;BAA92557;BAF82696;EAW53434;EAW53435;NP_065821;Q9P2M7 Hs.591464 1684020;1809278;1809594;1809726;1811044;1811108;1811838;1811974;1816422;1816668;1816868;1817444;1818532;1819478;1819946;1820878;1823468;1825398;1827838;1828350;1828496;1829966;1830100;1832278;1835398;1835758;1837320;1838712;1841292;1842230;1927202;1927204;1927206;1927208;1927210;1927212;1927214;1927216;1927218;1927220;1927222;1927224;1927226;1927228;1927230;1927232;1927234;1927236;1927238;1927240;1927242;1927244;1927246;1927248;1927250;1927252;1927254;1927256;1927258;1927260;1927262;1927264;1927266;1927268;1927270;1927272;1927274;1927276;1927278;1927280;1927282;1927284;1927286;1927288;1927290;1927292;1927294;1927296;1927298;1927300;1927302;1927304;1927306;1927308;1927310;1927312;1927314;1927316;1927318;1927320;1927322;1927324;1927326;1927328;1927330;1927332;1927334;1927336;1927338;1927340;1927342;1927344;1927346;1927348;1927350;1927352;1927354;1927356;1927358;1927360;1927362;1927364;1927366;1927368;1927370;1927372;1927374;1927376;1927378;1927380;1927382;1927384;1927386;1927388;1927390;1927392;1927394;1927396;1927398;1927400;1927402;1927404;1927406;1927408;1927410;1927412;1927414;1927416;1927418;1927420;1927422;1927424;1927426;1927428;1927430;1927432;1927434;1927436;1927438;1927440;2123643;2207836;2207838;2207840;2207842;2207844;2207846;2207848;2207850;2207852;2207854;2207856;2207858;2207860;2207862;2207864;2207866;2207868;2207870;2207872;2207874 ECD05629;ECD05789;ECD05855;ECD06520;ECD06552;ECD06923;ECD06992;ECD09253;ECD09377;ECD09480;ECD09772;ECD10328;ECD10806;ECD11044;ECD11515;ECD12825;ECD13806;ECD15042;ECD15300;ECD15375;ECD16116;ECD16183;ECD17277;ECD18854;ECD19040;ECD19827;ECD20533;ECD21842;ECD22318;REN34427;REN34428;REN34429;REN34430;REN34431;REN34432;REN34433;REN34434;REN34435;REN34436;REN34437;REN34438;REN34439;REN34440;REN34441;REN34442;REN34443;REN34444;REN34445;REN34446;REN34447;REN34448;REN34449;REN34450;REN34451;REN34452;REN34453;REN34454;REN34455;REN34456;REN34457;REN34458;REN34459;REN34460;REN34461;REN34462;REN34463;REN34464;REN34465;REN34466;REN34467;REN34468;REN34469;REN34470;REN34471;REN34472;REN34473;REN34474;REN34475;REN34476;REN34477;REN34478;REN34479;REN34480;REN34481;REN34482;REN34483;REN34484;REN34485;REN34486;REN34487;REN34488;REN34489;REN34490;REN34491;REN34492;REN34493;REN34494;REN34495;REN34496;REN34497;REN34498;REN34499;REN34500;REN34501;REN34502;REN34503;REN34504;REN34505;REN34506;REN34507;REN34508;REN34509;REN34510;REN34511;REN34512;REN34513;REN34514;REN34515;REN34516;REN34517;REN34518;REN34519;REN34520;REN34521;REN34522;REN34523;REN34524;REN34525;REN34526;REN34527;REN34528;REN34529;REN34530;REN34531;REN34532;REN34533;REN34534;REN34535;REN34536;REN34537;REN34538;REN34539;REN34540;REN34541;REN34542;REN34543;REN34544;REN34545;REN34546;RH70512;RH79758;stSG627250;stSG627251;stSG627252;stSG627253;stSG627254;stSG627255;stSG627256;stSG627257;stSG627259;stSG627260;stSG627261;stSG627262;stSG627263;stSG627264;stSG627265;stSG627266;stSG627267;stSG627268;stSG627269;stSG627270 DKFZp779N1112;FLJ39281;KIAA1319 OTTHUMP00000014466;cingulin protein-coding ENSG00000143375 17429 10827 609473 VALIDATED 1317722 CGGBP1 CGG triplet repeat binding protein 1 CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM, Mar 2008] 3 3 p12-p11.1 88183790 88190836 - 88101100 88199016 - 6480464 16381901;15489336;15489334;14667814;14519687;12477932;11256614;11230166;11076863;10692448;9201980;8268919;8069307;8626781;16169070;19728537;20141036;21733196;18029348;21139048;19322201 8545 C9JUJ0;Q9UFW8 ABBA01004632;ABBA01004633;ABBA01004634;AC119733;AC128650;AF094481;AJ000258;AL117392;AL357195;AMYH01013325;BC005222;BC042194;BC052980;BE501563;BU537042;CH471110;CR456854;NM_001008390;NM_001195308;NM_003663 AAD04161;AAH52980;CAA03974;CAB55894;CAG33135;CAL38583;EAW68863;EAW68864;NP_001008391;NP_001182237;NP_003654;Q9UFW8 Hs.444818 1697384;1735340;2163665 D3S2962E;G35321;RH102190 CGGBP;p20-CGGBP 20 kDa CGG-binding protein;CGG triplet repeat-binding protein 1;CGG-binding protein 1;OTTHUMP00000213853;OTTHUMP00000213877;OTTHUMP00000213878;OTTHUMP00000213996;OTTHUMP00000213997;p20-CGG binding protein;p20-CGGBP DNA-binding protein APPROVED protein-coding ENSG00000163320 1888 04529 603363 VALIDATED 1353387 CGNL1 cingulin-like 1 This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.3 34620494 34733233 + 55455997 55630213 + 57668703 57842925 + 6480464 15292197;14702039;12736278;12477932;11214970;18653465;20936779;21305692;21454477;17584767;16344560;21693764;21890473 84952 Q0VF96;Q6P5Q2 AA661765;AB051536;ABBA01038991;AC016525;AC025271;AK027025;AK027863;AK056673;AK307410;AL110171;AMYH01006677;AY274808;AY610514;BC021799;BC030995;BC062770;BC093827;BC112049;BC118918;BC118919;BQ023767;CH471082;DA272287;DC415862;NG_030584;NM_001252335;NM_032866 AAH30995;AAH62770;AAH93827;AAI12050;AAI18919;AAP42073;AAT37906;BAB21840;BAB55415;BAB71249;EAW77521;NP_001239264;NP_116255;Q0VF96 Hs.148989;Hs.734541 1648358;1660206;1665138;1704302;2156514;2173646;5020944;5020948;5022322 A007H42;AF044685;D11S2560;D15S1183;D15S738;G35510;RH70361;SHGC-83290;WI-11604 FLJ14957;JACOP;KIAA1749;MGC138254 OTTHUMP00000163190;cingulin-like protein 1;junction-associated coiled-coil protein;paracingulin APPROVED protein-coding ENSG00000128849 25931 09708 607856 REVIEWED 1353373 CGREF1 cell growth regulator with EF-hand domain 1 2 2 2 p23.3 27168567 27188302 - 27176973 27195475 - 27322221 27341995 - 632480;1580863;6480464 8968090 12477932;19913121;20628086;16341674;16344560;8889548 10669 F8WE80;Q99674 ABBA01045193;ABBA01045194;AC013403;AI870942;AK290128;AK302185;AK309147;AMYH01010194;BC034764;BM716977;BM849276;BX419588;CH471053;DB056279;NM_001166239;NM_001166240;NM_001166241;NM_006569;U66468 AAC50896;AAH34764;AAX93168;ABM81751;ABM84905;BAF82817;BAG63550;EAX00635;EAX00636;EAX00637;EAX00638;EAX00639;NP_001159711;NP_001159712;NP_001159713;NP_006560;Q99674 Hs.159525 1651754;1656643;2129573;2132891;2132893;2142126;2142354;2152542;5121687 A001Z30;D2S2614;G19822;RH12103;RH70696;RH70916;SHGC-12022;STS-AA027947;STS-Z41432 CGR11 OTTHUMP00000200952;OTTHUMP00000200954;OTTHUMP00000200955;OTTHUMP00000200956;OTTHUMP00000200957;cell growth regulator with EF hand domain protein 1;cell growth regulatory gene 11 protein;hydrophobestin protein-coding ENSG00000138028 16962 09365 606137 VALIDATED 1321560 CH25H cholesterol 25-hydroxylase This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008] 10 10 10 q23 84712523 84713900 - 90955674 90957051 - 90965694 90967071 - 1580863;6480464;6907045 17373700;9852097;18830724;16909003;16157450;15489334;15465627;15164054;12477932;20445134;20699362;20534741;20535486;20574532;21041692;16385451;20413850 9023 O95992 ABBA01021949;AF059212;AF059214;AK314865;AL513533;AMYH01002934;BC017843;BC072430;CH471066;FB336678;HH768017;NM_003956 AAC97481;AAC97483;AAH17843;AAH72430;ABM82952;ABM86144;BAG37380;CAR81282;CBX84760;EAW50146;NP_003947;O95992 Hs.47357 2114879 RH45896 C25H OTTHUMP00000020057;cholesterol 25-hydroxylase;cholesterol 25-monooxygenase;h25OH APPROVED protein-coding ENSG00000138135 1907 05183 604551 REVIEWED 733810 CGRRF1 cell growth regulator with ring finger domain 1 14 14 14 q22.2 35026117 35054859 + 54046337 54075084 + 54976587 55005334 + 632480;6480464 8968090 18029348;15489334;12477932;12070015;20677014;19690564;17207965;21906983;23259602;22493164 10668 G3V229;G3V2K9;G3V412;M0QZQ7;Q99675 ABBA01018195;ABBA01018196;AK289478;AK315318;AL359792;AMYH01005742;AW664053;BC015063;BG701924;CH471061;NM_006568;U66469 AAC50897;AAH15063;ACE87842;ACT64572;ADQ31704;BAF82167;BAG37721;EAW80640;EAW80641;EAW80642;NP_006559;Q99675 Hs.59106 1676988;1693490;2142908 RH70697;RH98940;SHGC-58227 CGR19;RNF197 OTTHUMP00000179003;RING finger protein 197;cell growth regulator with RING finger domain protein 1;cell growth regulatory gene 19 protein protein-coding ENSG00000100532 15528 09366 606138 VALIDATED 1606619 CHAC2 ChaC, cation transport regulator homolog 2 (E. coli) 2 2 2 p16 53835783 53843141 + 53848433 53855791 + 53994929 54002287 + 6480464 12477932;17207965;21832049;22939629;21139048 494143 Q8WUX2 ABBA01075237;AC007883;AMYH01010355;BC017941;BC019239;BC025376;BC053896;CH471053;NM_001008708 AAH17941;AAH19239;AAH25376;AAH53896;AAY24351;ADQ32202;EAX00172;EAX00173;NP_001008708;Q8WUX2 Hs.585944 1715515 RH120980 ChaC, cation transport regulator-like 2;OTTHUMP00000200605;cation transport regulator-like protein 2 protein-coding ENSG00000143942 32363 17418 PROVISIONAL 1604291 CHAC1 ChaC, cation transport regulator homolog 1 (E. coli) 15 15 15 q15.1 18013509 18016592 + 39032983 39036002 + 41245636 41248717 + 6480464 16189514;16341674;15489334;12477932;8889548;19109178;21890473;21906983;22108517;22589738 79094 H0YK90;Q9BUX1 ABBA01038427;AC020661;AMYH01006567;AY702027;BC001683;BC001847;BC019625;BM665296;BM784841;BQ900544;CB529304;CH471125;NM_001142776;NM_024111 AAH01683;AAH01847;AAH19625;AAW23972;EAW92467;NP_001136248;NP_077016;Q9BUX1 Hs.155569 MGC4504 ChaC, cation transport regulator-like 1;OTTHUMP00000160711;blocks Notch protein;botch;cation transport regulator-like protein 1 protein-coding ENSG00000128965 28680 14634 614587 VALIDATED 2292054 CHADL chondroadherin-like 22 22 22 q13.2 25431894 25443315 - 41625514 41636935 - 41625514 41636935 - 6480464 18029348;12477932 150356 B0QYT2;H0Y4I5;Q6NUI6 ABBA01055626;AL035681;AMYH01012800;BC012882;BC019839;BC040188;BC048421;BC068590;CH471095;NM_138481 AAH12882;AAH19839;AAH40188;AAH48421;AAH68590;EAW60419;NP_612490;Q6NUI6 Hs.344488 1694778;1847627;7186361 D22S1539;G43605 SLRR4B OTTHUMP00000198751;OTTHUMP00000198752;chondroadherin-like protein protein-coding ENSG00000100399 25165 VALIDATED 734435 CHAD chondroadherin Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 45003146 45007520 - 45896852 45901226 - 48541853 48546227 - 1580863;6480464;6907045 15489334;12477932;11445564;9344663;9281592;1939097;23172228;19525844;21127050 1101 H0YA03;O15335 ABBA01041240;AC021491;AF371328;AK292177;AMYH01008472;AMYH01008473;BC036360;BC073974;BQ181527;CH471109;NM_001267;U96767;U96768;U96769 AAC13410;AAH36360;AAH73974;AAK51556;ADZ15372;BAF84866;EAW94613;EAW94614;NP_001258;O15335 Hs.97220 2146995;2218376 CHAD_4562;G13356 SLRR4A OTTHUMP00000221355;OTTHUMP00000221419;cartilage leucine-rich protein;chondroadherin;chondroadherin proteoglycan APPROVED protein-coding ENSG00000136457 1909 03711 602178 REVIEWED 1312173 CHAT choline O-acetyltransferase This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010] 10 10 q11.2 50487147 50543156 + 50817141 50873150 + 1600851;1600831;2301195;5686805;6480464;6907045;7240710;5686690 16834974;11172068;126256;16987871;17328924 10861222;19156168;19086053;18780301;18603262;18562794;18559515;18379437;18322398;18165968;17503482;17503475;17378730;17373692;17144655;16480703;16468020;16424819;16223550;15913843;15690550;15381704;15276243;14514417;22449376;8071310;8057782;7682855;7616604;3480542;3183663;3086876;2004764;1840566;1784419;1400357;1388731;1339386;1337937;12770689;12759818;12637523;12628465;12609506;12486117;12477932;12401548;12393272;11595752;10692442;10594838;10369388;9073174;8515278;8479291;19913121;20602615;20628086;16385451;19711100;19776575;20100532;20227257;20379614;20383528;20468060;20877624;20560540;20147892;21163949;22483691;22683430;23242284;21948486;21507424;21691765;21883924;21602657;21786365;21382474;20301347 1103 D3DX95;F8W8I2;P28329;Q6LEN5;Q6LEN6;R4GN13 ABBA01041070;AC073366;AF305906;AF305907;AF305908;AF305909;AF450452;AMYH01002642;BC130615;BC130617;CH471187;D82339;D82340;D82341;D82342;L33837;M89917;M96015;NG_011797;NM_001142929;NM_001142933;NM_001142934;NM_020549;NM_020984;NM_020985;NM_020986;S45018;S56138;X56585;X56879;X65023 AAA14245;AAB23557;AAC37590;AAI30616;AAI30618;AAK08950;AAK08951;AAK08952;AAK08953;AAK08954;AAK08955;AAL48258;ADR83068;BAA18943;BAA18944;BAA18945;BAA18946;CAA39923;CAA40201;CAA46157;EAW93086;EAW93087;EAW93088;EAW93089;EAW93090;EAW93091;EAW93092;NP_001136401;NP_001136405;NP_001136406;NP_065574;NP_066264;NP_066265;NP_066266;P28329 Hs.302002 2137931;5494175 D10S1607;fc03d10.x1 CHOACTASE;CMS1A;CMS1A2 OTTHUMP00000019583;OTTHUMP00000019584;acetyl CoA:choline O-acetyltransferase;choline O-acetyltransferase;choline acetylase APPROVED protein-coding ENSG00000070748 1912 07510 118490;254210 REVIEWED 6480946 CHCHD2P1 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1 X 122918859 122919301 + 100874506 ABBA01036381;AL023575;AMYH01022936;NG_032323 pseudo 39585 INFERRED 5128925 CHCHD2P10 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 10 8 8 8 q11.23 51094705 51095156 - 55266698 55267149 - 55103845 55104614 - 18997786 392221 ABBA01041741;AC060764;AMYH01018726;NG_028946 pseudo 39593 INFERRED 5129003 CHCHD2P2 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2 5 5 5 q13.2 65632836 65633276 + 68665457 68666210 + 68629693 68630454 + 728324 ABBA01048276;AC145132;AC145145;AMYH01015146;NG_028950 1699034 RH103090 pseudo 39586 INFERRED 5129000 CHCHD2P3 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 3 19 19 19 q13.11 31311472 31311923 + 39309717 39310168 + 34617830 34618621 + 100128110 ABBA01004322;AC016587;AMYH01009711;NG_028973 pseudo 39587 INFERRED 6480941 CHCHD2P4 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 4 6 134714280 134714647 - 100874507 ABBA01025855;AL096815;AMYH01016688;NG_032324 pseudo 39588 INFERRED 1353205 CHAF1A chromatin assembly factor 1, subunit A (p150) Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008] 19 19 p13.3 4353660 4394394 + 4402660 4443394 + 1580863;6480464 7600578;19324875;18559551;18270339;17099699;17081983;16964243;16826239;15882967;15664198;15489334;15456888;15327775;15302935;15231747;15067324;12771185;12697822;12477932;11897662;11250073;10938122;10893180;10648606;10549285;10052459;9614144;8858152;17353931;15143166;17785442;14718166;15805117;17066076;17081972;17452450;17474147;19822659;19919826;11296234;19059499;19498464;20211142;20800603;17173071;19845771;20936779;16341674;21282622;15306854;21209461;16622419;20562864;21570500;20504901;22939629;21445097;19471022;21693764;22195966;22228774;22232658;21888893;21628590;21724829;22190034 10036 K7EJF1;K7EME9;K7ENC7;K7EPA1;Q13111 AA576757;ABBA01056073;ABBA01056074;ABBA01056075;AC011498;AF190465;AMYH01009332;AMYH01009333;BC005813;BC011560;BC041606;BC052620;BC067093;BE796132;BG775588;BM826511;BQ889365;CH471139;H98924;NM_005483;U20979 AAA76736;AAF04291;AAH52620;AAH67093;EAW69224;EAW69225;EAW69226;NP_005474;Q13111 Hs.79018 1773703;2109131;2128706;2164396 CHAF1A_9030;RH17788;RH70581;SHGC-31596 CAF-1;CAF1;CAF1B;CAF1P150;MGC71229;P150 CAF-1 subunit A;CAF-I 150 kDa subunit;CAF-I p150;chromatin assembly factor 1 subunit A;chromatin assembly factor I (150 kDa);chromatin assembly factor I p150 subunit;hp150 APPROVED protein-coding ENSG00000167670 1910 03148 601246 VALIDATED 6480945 CHCHD2P5 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 5 1 94386825 94387225 - 100874508 ABBA01045517;AL117351;AMYH01000805;NG_032325 pseudo 39589 INFERRED 6480948 CHCHD2P7 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 7 4 88707075 88707514 - 100874509 ABBA01063538;AC093768;AMYH01014381;NG_032326 pseudo 39591 INFERRED 1316940 CHAF1B chromatin assembly factor 1, subunit B (p60) Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008] 21 21 q22.13 36679559 36710995 + 37757689 37789125 + 1580863;6480464 7600578;9614144;16780588;19309489;17081983;16980972;15664198;15489334;15302935;15068244;15024074;12771185;12477932;11897662;10938080;10893180;10830953;9813080;8885239;8858152;8792829;8660983;17353931;12697822;14718166;17081972;17452450;18029348;19498464;19759913;20178651;21109952;15882967;19394292;20953179;21083601;15306854;20504901;16622419;20562864;21832049;22939629;19410544;21139048;21890473;21906983;22195966;21628590;21724829 8208 H0YHC8;Q13112 ABBA01057395;AK313152;AL711314;AMYH01012226;AP000694;AP001725;BC001143;BC021218;CH471079;NM_005441;U20980;X98262 AAA76737;AAH21218;ADZ15742;BAA89426;BAA95549;BAG35970;CAA66915;EAX09741;NP_005432;Q13112 Hs.75238 1653250;1666925;1769251;2152643;2175792 D21S1939;G34657;SHGC-51966;SHGC-9552;STS-U20980 CAF-1;CAF-IP60;CAF1;CAF1A;CAF1P60;MPHOSPH7;MPP7 CAF-1 subunit B;CAF-I 60 kDa subunit;CAF-I p60;M-phase phosphoprotein 7;OTTHUMP00000109011;chromatin assembly factor 1 subunit B;chromatin assembly factor I p60 subunit;human chromatin assembly factor-I p60 subunit APPROVED protein-coding ENSG00000159259 1911 03147 601245 REVIEWED 5128915 CHCHD2P6 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6 1 1 1 p36.21 14413268 14414402 + 15802840 15804411 + 15931023 15931813 + 645317 ABBA01004706;AL121992;AMYH01000274;NG_028927 FLJ34180 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6;coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like pseudo 39590 INFERRED 1602600 CHCHD2P9 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9 9 9 9 q21.31 52583546 52584319 + 81196014 81196775 + 82006182 82006955 + 645345 Q5T1J5 ABBA01033955;AL450243;AMYH01021438;NG_009939 1764139 SHGC-147781 C9orf49;CHCHD9 APPROVED pseudo 23676 17395 INFERRED 5128926 CHCHD2P8 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 8 13 13 13 q12.2 9756821 9757102 + 27579732 27580013 + 28681732 28682013 + 11181995;20877624 646630 ABBA01035730;AL356915;AMYH01004993;CH471075;NG_006975 EAX08426;EAX08427 pseudo 39592 INFERRED 7176398 CHCHD3P1 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 1 10 p14 8661896 8662573 + 338591 ABBA01034722;AL139403;AMYH01002016;NG_022161 2145689 A006U30 pseudo 44697 INFERRED 7175989 CHCHD3P2 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2 12 73004458 73005098 + 100422354 ABBA01026501;AC078921;AMYH01004583;NG_024109 1746959 G64826 pseudo 44698 INFERRED 7176059 CHCHD3P3 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 3 1 p36.11 27527327 27527964 - 646572 ABBA01034959;AL590640;AMYH01000422;NG_030193 1773989;2145689;2166467 A003B39;A006U30;D7S2645 pseudo 44699 INFERRED 7174917 CHCHD4P1 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 7 q21.2 92071391 92071808 + 645862 AACC02000014;ABBA01045803;AC007566;AMYH01017691;CH236949;NG_009441 pseudo 44489 INFERRED 7174867 CHCHD4P2 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 2 9 q31.2 110859715 110860131 - 100128657 ABBA01042779;AC068050;AMYH01021616;NG_030088 2176956 D9S1091 pseudo 44490 INFERRED 7174984 CHCHD4P4 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 4 3 p25.3 11275942 11276366 - 728143 ABBA01025226;AC083855;AMYH01012975;NG_030101 pseudo 44492 INFERRED 1316148 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 10 10 10 q22.2 68824977 68826575 + 75211834 75213137 + 75541808 75543406 + 6480464 16341674;15489334;15177562;12477932;20877624;18029348;20186120;21890473;22190034 118487 A6NJX6;Q96BP2 ABBA01020308;AC022400;AK098720;AMYH01002830;BC015387;BC020852;BM787401;CH471083;NM_203298 AAH15387;AAH20852;ACE87840;ACT64570;EAW54520;NP_976043;Q96BP2 Hs.181174 1773687;2172061;5124221 RH48498;RH98929;SGC31354 C10orf34;C2360;FLJ25854 OTTHUMP00000019827;coiled-coil-helix-coiled-coil-helix domain-containing protein 1;nuclear protein C2360 protein-coding ENSG00000172586 23518 12313 608842 VALIDATED 1347670 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 22 22 22 q11.23 7947114 7949233 - 22438021 22440141 - 24108021 24110141 - 6480464 15489334;12477932;19913121;20628086;20888800;18029348;20877624 400916 B5MBW9;E5RGN4;E5RH03;Q8WYQ3 AB050774;ABBA01055120;AK289560;AMYH01012647;AP000349;BC053570;BC065232;CH471095;NM_213720 AAH65232;BAB83036;BAF82249;EAW59602;NP_998885;Q8WYQ3 Hs.66915 5121426 RH46921 C22orf16;MGC70831;N27C7-4 OTTHUMP00000198408;OTTHUMP00000198409;coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial;protein N27C7-4 protein-coding ENSG00000250479 15559 12797 PROVISIONAL 1322656 CHAMP1 chromosome alignment maintaining phosphoprotein 1 13 13 13 q34 95752593 95765430 + 114098117 114110899 + 115079965 115092803 + 6480464 15146197;16344560;8889548;18029348;17081983;16964243;15489334;15302935;15057823;14702039;12477932;11347906;21063390;16055720;19394292;20562864;22939629;22990118;20360068;21252943;19471022;21139048;21890473 283489 Q96JM3 AB058705;ABBA01006264;AK074894;AK096346;AL160396;AL845154;AMYH01005417;BC004820;BC019576;BC065237;BM663717;CH471085;CN365659;DA289328;DB229502;NM_001164144;NM_001164145;NM_032436 AAH04820;AAH65237;ABZ92044;BAB47431;BAC11273;BAG53268;EAX09253;EAX09254;NP_001157616;NP_001157617;NP_115812;Q96JM3 Hs.7542 1754439;2162161;2171893 A006M48;SHGC-132547;SHGC-35748 C13orf8;CAMP;CHAMP;FLJ90413;KIAA1802;ZNF828 OTTHUMP00000018793;chromosome 13 open reading frame 8;chromosome alignment-maintaining phosphoprotein;chromosome alignment-maintaining phosphoprotein 1;zinc finger protein 828 APPROVED protein-coding ENSG00000198824 20311 10707 VALIDATED 1320361 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 7 7 7 p11.2 67222175 67227096 - 56136760 56141681 - 56169266 56174187 - 6480464 15489334;12853948;12477932;17207965;20877624;19680543;17500595;22939629;19343720;19850743;22505724 51142 Q9Y6H1 ABBA01061851;ABBA01061852;AC006970;AF078845;AMYH01017279;AY605046;AY633613;BC003079;BC015639;BC066331;BC071985;BC100275;BF347122;CH471140;NM_016139 AAD44477;AAH03079;AAH15639;AAH66331;AAH71985;AAI00276;AAQ96886;AAT35813;AAV33306;ACE87061;ACE87742;ADQ32967;EAX07990;NP_057223;Q9Y6H1 Hs.389996;Hs.547257 1699034;5097043;5124675 G62103;RH103090;RH79870 C7orf17 16.7kD protein;HCV NS2 trans-regulated protein;NS2TP;OTTHUMP00000159799;aging-associated gene 10 protein;coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial protein-coding ENSG00000106153 21645 09879 VALIDATED 1321831 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008] 3 3 3 p25.1 14091884 14104678 - 14128578 14141372 - 14153577 14166371 - 737633;6480464 12477932 16185709;15489334;14702039;19397338;18779329;17336303;22214851;21383138;20877624;19182799;22939629;20360068;21700214;21988832;23186364;23402259;23455922 131474 F8WDW7;Q8N4Q1 ABBA01025161;AC090004;AK056271;AK290764;AMYH01012996;BC017082;BC033775;CH471055;DB452249;DB501565;NM_001098502;NM_144636 AAH17082;AAH33775;BAB71132;BAF83453;EAW64180;EAW64181;EAW64182;EAW64183;NP_001091972;NP_653237;Q8N4Q1 Hs.517815 FLJ31709;MIA40;TIMM40 OTTHUMP00000208131;OTTHUMP00000208132;coiled-coil-helix-coiled-coil-helix domain-containing protein 4;mitochondrial intermembrane space import and assembly 40 homolog;mitochondrial intermembrane space import and assembly protein 40;translocase of inner mitochondrial membrane 40 homolog APPROVED protein-coding ENSG00000163528 26467 13045 611077 VALIDATED 1312070 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 3 3 3 q21.3 124847408 125103434 + 127905808 128161934 + 126423063 126679263 + 737633;6480464 12477932 19240061;17624330;15489334;20379614;21832049;22939629;16196087;19389623;20360068;22228767 84303 H0Y922;J3QTA6;J3QTB2;Q9BRQ6 ABBA01016383;ABBA01016384;ABBA01016385;AC078867;AC092898;AC117450;AK310910;AK311056;AMYH01013450;AMYH01013451;BC006123;CH471052;DN992600;JF264889;NM_032343 AAH06123;AEA95848;EAW79352;NP_115719;Q9BRQ6 Hs.518119 1709156;1749205;1751329;1767786;1788148;1981130;2157187 AFM203wd10;G67238;REN61461;RH68812;SHGC-105170;SHGC-110882;SHGC-85739 CHCM1;MGC13016;PPP1R23 OTTHUMP00000215951;OTTHUMP00000215952;OTTHUMP00000215955;OTTHUMP00000215956;coiled coil helix cristae morphology 1;coiled coil helix cristae morphology protein 1;coiled-coil-helix cristae morphology 1;coiled-coil-helix-coiled-coil-helix domain-containing protein 6;coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial;protein phosphatase 1, regulatory subunit 23 protein-coding ENSG00000159685 28184 13047 VALIDATED 1347837 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 8 8 8 q12.1 53115008 53121870 + 57286869 57293732 + 57124315 57131178 + 737633;6480464 12477932 20922212;22842048;19266077;18391951;18391950;16736500;15489334;14702039;8125298;20546612;20877624 79145 E5RFN2;E5RHM5;E5RII1;E5RJ08;E5RJ15;J3KPV1;Q9BUK0 ABBA01041764;AC107952;AK095922;AK098285;AK225982;AK290088;AMYH01018735;AY070434;BC002546;BX473986;CH471068;NM_001011667;NM_001011668;NM_001011669;NM_001011670;NM_001011671;NM_024300 AAH02546;AAL65261;BAF82777;EAW86776;EAW86777;EAW86778;EAW86779;NP_001011667;NP_001011668;NP_001011669;NP_001011670;NP_001011671;NP_077276;Q9BUK0 Hs.436913 1663781;5109281;5115372 D1S1425;RH46894;RH48841 COX23;FLJ40966;MGC2217 COX23 cytochrome c oxidase assembly homolog;OTTHUMP00000082719;OTTHUMP00000226425;OTTHUMP00000226428;OTTHUMP00000226429;OTTHUMP00000226430;OTTHUMP00000226431;OTTHUMP00000227766;OTTHUMP00000227767;OTTHUMP00000227768;OTTHUMP00000227769;OTTHUMP00000227770;OTTHUMP00000227771;coiled-coil-helix-coiled-coil-helix domain-containing protein 7 protein-coding ENSG00000170791 28314 13048 611238 VALIDATED 1317218 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 2 2 2 q13 106727581 106732162 + 113058507 113063088 + 113342036 113346617 + 6480464 15489334;14702039;12477932;22842048 84269 F8WC14;Q8N8C4;Q9BSY4 ABBA01074256;ABBA01074257;AC012442;AK096990;AK312219;AMYH01010966;BC004498;CH471217;NM_032309 AAH04498;AAX82000;BAC04922;BAG35152;EAW73594;EAW73595;NP_115685;Q9BSY4 Hs.375707 5125349 RH69700 C2orf9;FLJ39671;MGC11104;MIC14 OTTHUMP00000161987;OTTHUMP00000203636;coiled-coil-helix-coiled-coil-helix domain-containing protein 5;mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog protein-coding ENSG00000125611 17840 13046 PROVISIONAL 1321163 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 7 7 7 q33 127221897 127518382 - 132120163 132417373 - 132469623 132766833 - 1580863;6480464 14702039;16189514;19240061;17624330;16565220;15489334;12690205;12477932;20379614;20877624;17207965;21081504;22939629;22990118;16196087;19389623;18029348;21139048;21890473;21906983;20360068;21900206;22114354;22354994;22252321;23019327 54927 A4D1N4;C9JRZ6;F8WAR4;F8WD73;G3V1K1;Q9NX63 AACC02000027;ABBA01001097;ABBA01001098;ABBA01001099;ABBA01001100;AC008038;AC009365;AC083873;AC093145;AK000427;AK129533;AK294071;AK310236;AMYH01017947;AMYH01017948;AMYH01017949;BC011596;BC014839;CH236950;CH471070;NM_017812 AAH11596;AAH14839;ADQ31869;BAA91157;BAH11665;EAL24074;EAW83800;EAW83801;EAW83802;EAW83803;NP_060282;Q9NX63 Hs.655010 1337273;1649837;1668354;1693610;1744307;1758981;1766785;1773989;1788984;1789152;2140302;2145689;2148014;2166467;2179939;2183158;5021720;5024045;7184447 A003B39;A004S13;A006U30;D7S1566;D7S1771;D7S2645;D7S640;G65571;G65719;GDB:451619;GDB:4585575;IB3127;RH66367;SHGC-151105;SHGC-152102;SHGC-30795;SHGC-58524;ksks40 FLJ20420;MINOS3;PPP1R22 OTTHUMP00000207488;OTTHUMP00000207489;OTTHUMP00000207490;coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial;mitochondrial inner membrane organizing system 3;protein phosphatase 1, regulatory subunit 22 protein-coding ENSG00000106554 21906 13044 613748 PROVISIONAL 1315610 CHD1 chromodomain helicase DNA binding protein 1 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008] 5 5 q15-q21 98218808 98290138 - 98190908 98262238 - 1580863;6480464 9326634;17098252;17081983;16372014;16263726;15146197;14702039;12890497;12522270;12477932;10199952;8889548;8460153;7739555;17353931;16009940;19322201;22779921;16728976;17540172;19441106;19625449;20363151;20379614;18817785;20431927;21979373;19596686;21139048;19471022;22044751;22046413;22586326;22048254;23492366;22139082;22179824 1105 B3KT33;H0Y8V4;H0Y8Z0;O14646 ABBA01069199;ABBA01069200;ABBA01069201;ABBA01069202;AC022121;AF006513;AK094871;AMYH01015493;AMYH01015494;BC054860;BC117134;BM698633;BQ436172;BX648767;CH471084;CN277742;NM_001270 AAB87381;AAH54860;AAI17135;BAG52945;EAW96098;NP_001261;O14646 Hs.643465 1341659;1691100;1700406;1750017;1775661;1789178;1795560;2191173 CHD1_1299;D5S2079;G65588;MARC_15733-15734:1013528717:1;RH103824;RH80994;SHGC-111713;WI-13675 DKFZp686E2337 ATP-dependent helicase CHD1;CHD-1;OTTHUMP00000222625;chromodomain-helicase-DNA-binding protein 1 APPROVED protein-coding ENSG00000153922 1915 03668 602118 REVIEWED 1320737 CHD2 chromodomain helicase DNA binding protein 2 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q26 69855404 69982772 + 91244555 91372241 + 93443551 93571237 + 1580863;6480464 9326634;17606441;16572171;16344560;16204458;15146197;14702039;14684825;12477932;20379614;17000644;19596686;21139048;19471022;22586326;23382691 1106 B7Z3I4;G3V418;G3V4S8;H3BU65;J3KRM9;J3QR73;O14647 AA907775;ABBA01053103;ABBA01053104;AC013394;AF006514;AK095933;AK292850;AK295909;AL831836;AMYH01006936;AY429527;AY429528;BC007347;BC020810;BC047036;BC107885;BT007050;BU630151;BX537626;CH471101;CN277753;CT003638;DB111282;DB121252;DQ088985;DQ088986;NG_012826;NM_001042572;NM_001271 AAB87382;AAH07347;AAH20810;AAI72425;AAP35699;AAZ85980;AAZ85981;ADZ15488;BAF85539;BAH12220;EAX02160;EAX02161;EAX02162;EAX02163;EAX02164;EAX02165;NP_001036037;NP_001262;O14647 Hs.220864 1648898;1674601;1676794;1680395;1683942;1849999;1852109;1857925;2113168;2113180;2116594;2123683;2126226;2135272;2141329;2156624;2159646;2170985;5094847 1876;A003M08;CHD2;D15S1298;D15S1494;D15S1501;HSC2CD122;HSCZYG012;RH11204;RH44328;RH44878;RH46033;RH66633;RH78806;RH80079;RH93743;SHGC-37648;STS-N29696;WI-20731 DKFZp547I1315;DKFZp686E01200;DKFZp781D1727;FLJ38614 ATP-dependent helicase CHD2;CHD-2;OTTHUMP00000194776;OTTHUMP00000246834;OTTHUMP00000246835;OTTHUMP00000246836;chromodomain-helicase-DNA-binding protein 2 APPROVED protein-coding ENSG00000173575 1917 03669 602119 REVIEWED 1323647 CHD1L chromodomain helicase DNA binding protein 1-like This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Several alternatively spliced transcripts variants have been described for this gene. [provided by RefSeq, Jan 2012] 1 1 1 q12 122216559 122269716 - 145180915 145234067 + 146714291 146767447 + 1298632;6480464 9653160 14702039;18464913;18023026;16344560;12477932;11329013;11042152;8125298;8076819;15902274;18029348;19661379;19666485;20335658;20453000;21068133;19471022;15146197;16712791;21824431;21953552;21139048;21890473;21906983;22146311;23045548;21963094;21988832;23020525;23132853 9557 B4DDE1;B4DPN5;B5MDZ7;Q96SP3;Q9H678 ABBA01004398;ABBA01004399;AC242426;AF054177;AF537213;AK001342;AK026183;AK027631;AK223496;AK293157;AK297135;AK298424;AK307400;AL356378;AMYH01001225;BC001171;BC005038;BC008649;BC043501;BC053354;BC077717;BG195857;CB153921;CH471223;CN255647;CN255649;CN255654;DA007597;DA155685;DA745071;EC452903;EF560738;NM_001256336;NM_001256337;NM_001256338;NM_004284;NM_024568;NR_046070;R46126 AAC39911;AAH01171;AAH05038;AAH08649;AAH43501;AAH77717;AAO49505;ABQ59048;BAA91637;BAB15386;BAB55248;BAD97216;BAG56702;BAG59638;BAG60647;CAH72650;EAW50936;EAW50937;EAW50938;NP_001243265;NP_001243266;NP_001243267;NP_004275;NP_078844;Q86WJ1 Hs.191164 1675698;1692618;2107923;2143341;2149069 AL034067;CHD1L_7953;RH25735;WI-11405;WI-11526 ALC1;CHDL;FLJ22530 OTTHUMP00000016308;amplified in liver cancer 1;amplified in liver cancer protein 1;chromodomain-helicase-DNA-binding protein 1-like APPROVED protein-coding ENSG00000131778 1916 09880 613039 VALIDATED 1317694 CHD5 chromodomain helicase DNA binding protein 5 This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012] 1 1 p36.31 6084440 6162770 - 6161847 6240194 - 1580863;6480464 18953434;18698156;18577749;18413720;17289567;17081983;16710414;15489334;14702039;12592387;12168954;10718198;9455484;21555454;19840376;20950435;22186629;22328561;22910690;21250965;21636313;22235338;21860208;22294723;21963094;23000965;23168260;22569290;22505724 26038 F2Z2R5;F6T542;K7EMC0;K7EMY3;K7ESA5;Q5TG85;Q8TDI0 AB007913;ABBA01035435;ABBA01035436;ABBA01035437;ABBA01035438;AF425231;AK091386;AK126012;AK127046;AL031847;AL035406;AL110281;AL117491;AL137693;AMYH01000209;AW005809;BC048142;CH471130;NM_015557 AAI46382;AAI48804;AAL98962;BAA32289;BAC86391;BAC86802;BAG52346;CAB55959;CAH56377;CAH56404;EAW71516;NP_056372;Q8TDI0 Hs.522898 1680288;1760119;2107925;2176665;2187321 CHD5_8020;G29319;RH80639;SHGC-108153;SHGC-74144 CHD-5;DKFZp434N231;KIAA0444 ATP-dependent helicase CHD5;CHD-5;OTTHUMP00000001137;OTTHUMP00000001138;chromodomain-helicase-DNA-binding protein 5 APPROVED protein-coding ENSG00000116254 16816 10828 610771 VALIDATED 1349317 CHD3 chromodomain helicase DNA binding protein 3 This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 p13.1 7728849 7756246 + 7788123 7816075 + 1580863;6480464 9326634;9688266;12505151;15383276;18922793;17626165;17489097;17081983;16169070;15635413;15302935;15020045;14702039;14609633;12705869;12477932;12374985;11230151;10961991;10662545;10471500;10204490;9921901;9804427;8889548;8843877;7575689;7560064;1639417;11784859;10444591;12198550;12493763;15456747;15454082;17922035;17827154;19703393;18082607;11297506;11850410;12431981;12453419;16455055;16574654;16728976;17027977;17344210;20585571;20676135;21196933;23314748;20547755;22939629;21252943;21937684;21642969;21900206;21906983;9885572;18451880;19497860;19471022;22457607;18029348;22140357 1107 B3KWV4;H7C0J3;H7C2H0;H7C3H7;I3L1I4;I3L229;K7EPV1;Q12873;Q2TAZ1 ABBA01054890;AC104581;AF064844;AK096555;AK125928;AK296725;AK296937;AK308362;AMYH01008086;BC110648;BM554923;BX283837;CB851648;CH471108;NM_001005271;NM_001005273;NM_005852;U08379;U91543 AAC39923;AAC50228;AAI10649;AAI56473;BAG54266;BAG59313;BAG59488;EAW90114;EAW90115;EAW90116;NP_001005271;NP_001005273;NP_005843;Q12873 Hs.25601 1340563;1776294;2109133;2117413;2125212;2144424;2186753 CHD3_7231;D17S1796;DXS7495;RH12021;RH47412;WI-18497;WI-22609 Mi-2a;Mi2-ALPHA;ZFH ATP-dependent helicase CHD3;CHD-3;OTTHUMP00000197335;OTTHUMP00000197336;OTTHUMP00000197337;chromodomain-helicase-DNA-binding protein 3;hZFH;mi-2 autoantigen 240 kDa protein;zinc finger helicase;zinc-finger helicase (Snf2-like) APPROVED protein-coding ENSG00000170004 1918 09071 602120 REVIEWED 1322684 CHD4 chromodomain helicase DNA binding protein 4 The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. [provided by RefSeq, Jul 2008] 12 12 p13 6549509 6586812 - 6679248 6716551 - 734775;1580863;6480464 7575689 9326634;7560064;19158090;17694084;17626165;17314511;17081983;16186106;15635413;15489334;15302935;15231747;15189737;14702039;14530259;12842043;12493763;12477932;12124384;12015313;11790298;11102443;10545197;10444591;9804427;9790534;8843877;19322201;21670149;12374985;12920132;10220385;12354758;19321449;15144897;19296121;19615732;19624289;19644445;11003653;15701600;15882967;16091750;16159877;16217013;16574654;18644863;19394292;19454010;19759913;17403666;17620012;21278251;20585571;21219611;23071088;20127688;21182205;22939629;23022380;21252943;16196087;18029348;20693977;20714342;21888893;19471022;22075476;22145905;19497860;19703393;21139048;21532573;21549307;21555454;21693764;21890473;21906983;21963094;9885572;22302795;22219182;22575888;22586326;22531782;15561718;18247557;22749909;19738201;21258344;22113938;22623428;23000965;23049088;22053931;22505724;23011797 1108 B3KY63;F5GWX5;F5H596;F5H6N4;Q05CG6;Q14839 ABBA01017645;ABBA01017646;ABBA01017647;AC006064;AK128741;AMYH01004204;BC014964;BC025962;BC038596;CH471116;CR936680;NM_001273;X86691 AAH14964;AAH25962;AAH38596;ABZ92034;BAG54725;CAA60384;EAW88777;EAW88778;EAW88779;NP_001264;Q14839 Hs.162233 1664555;1666728;1673699;1705298;1733588;2131374;2151260;2158245;2191365;2217148;5096535 CHD4_3948;D12S1958;D12S925;G41277;MARC_17871-17872:1025017089:1;RH125;RH48433;RH48724;RH64827;SHGC-78606;WI-17749 DKFZp686E06161;Mi-2b;Mi2-BETA ATP-dependent helicase CHD4;CHD-4;Mi-2 autoantigen 218 kDa protein;OTTHUMP00000240273;OTTHUMP00000240274;chromodomain-helicase-DNA-binding protein 4 APPROVED protein-coding ENSG00000111642 1919 04472 603277 REVIEWED 1351462 CHE2 cholinesterase (serum) 2 2758686 1110 1922 177500 1344600 CHED1 corneal endothelial dystrophy 1 (autosomal dominant) 7240710 8634716 8197 1335976;2179756;7185117 D20S114;D20S471;D20S48 1923 1353204 CHED2 corneal endothelial dystrophy 2 (autosomal recessive) 7240710 10209448;10512674 9574 1924 217400;217700;613268 1321381 CHD6 chromodomain helicase DNA binding protein 6 This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013] 20 20 20 q12 36741838 36957790 - 39464584 39680547 - 40031170 40247133 - 1580863;6480464 12592387;17525332;17081983;17027977;15489334;15231748;14702039;12477932;12168954;11889561;11780052;10718198;20936779;16314513;20085707;20379614;20631145;23408615;23667531;21899694;21139048;22745009;16713569 84181 C9JFU2;H7C294;Q9H6D4 AB037756;ABBA01052579;ABBA01052580;ABBA01052581;AF525085;AK026022;AK091551;AK098144;AK296955;AL031667;AL031669;AL121674;AMYH01011915;AMYH01011916;AMYH01011917;AY034072;BC012516;BC021907;BC039860;BC040016;BF063641;BM973992;CH471077;CR749575;NM_032221 AAH21907;AAI72397;AAK56405;AAN59903;BAA92573;BAB15325;BAG59500;EAW75974;EAW75975;EAW75976;EAW75977;EAW75978;EAW75979;EAW75980;EAW75981;NP_115597;Q8TD26 Hs.740645 1648070;1666769;1673233;1771544;1784412;2125725;2182519;2183553;5015861;5022200;5037552;7185938 AL023701;D10S16;D20S997;D8S2279;L18426;SHGC-82496;WIAF-1711;Z94307;Z94510;Z94571;Z94700 CHD-6;CHD5;KIAA1335;RIGB ATP-dependent helicase CHD6;CHD-6;OTTHUMP00000031013;chromodomain-helicase-DNA-binding protein 6;helicase C-terminal domain- and SNF2 N-terminal domain-containing protein;radiation-induced gene B protein APPROVED protein-coding ENSG00000124177 19057 13049 REVIEWED 1323630 CHD7 chromodomain helicase DNA binding protein 7 This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008] 8 8 q12.2 61753893 61942019 + 61591324 61780587 + 6480464;6484113;7240710 17684005;9556299;16155193;15300250;17937444;19336370;19159393;19065520;19021638;18834967;18505430;18484313;18472328;18445044;18074359;18073582;17661815;17603073;17436250;17299439;17253929;16763960;16400610;16207732;16169932;16118347;15302935;14702039;12477932;12168954;10737800;10718198;10590394;8125298;22646239;22399515;20634891;18978652;19248844;19279158;20130577;20186815;20800603;20425471;20591827;20507341;20453063;20736290;20301296;20624498;21041284;17952062;20943277;22724017;20811636;23533228;23667531;23134727;19471022;21139048;21532573;21890473;21931733;22302456;23000965;23333604;22424883;20301509;21554267;22586326;23187639;23396134;22461308;22539353 55636 E9PP20;H0YD01;H0YDC1;Q6ZWF9;Q9NXA0 AB037837;ABBA01041815;ABBA01041816;ABBA01041817;ABBA01041818;AC023102;AC113143;AK000364;AK000368;AK123158;AK225354;AK295751;AL833190;AMYH01018755;AMYH01018756;AMYH01018757;AMYH01018758;AW750162;BC014681;BC033116;BC041018;BC051264;BC053890;BC068000;BC080627;BC110818;BI039198;CH471068;CR984604;GU060498;NG_007009;NM_017780;W78145 AAH14681;AAH51264;AAH53890;AAH68000;AAH80627;AAI10819;AAI72443;ACY35999;BAA91113;BAA91116;BAA92654;BAC85544;BAG58582;EAW86830;EAW86831;EAW86832;EAW86833;EAW86834;NP_060250;Q9P2D1 Hs.20395;Hs.733236 1644175;1679179;1706148;1714971;1719221;1725387;1735730;1755791;2125919;2126460;2177884 D8S1349E;D8S1986;D8S2048;RH119011;RH120823;RH123329;RH94208;SHGC-142634;SHGC-57936;SHGC-80117;WI-11635 FLJ20357;FLJ20361;HH5;IS3;KAL5;KIAA1416 ATP-dependent helicase CHD7;CHD-7;OTTHUMP00000229376;chromodomain helicase DNA binding protein 7 isoform CRA_e;chromodomain-helicase-DNA-binding protein 7 APPROVED protein-coding ENSG00000171316 20626 10595 214800;608765;608892;612370 REVIEWED 4106123 CHEK2P1 checkpoint kinase 2 pseudogene 1 Y Y q11.21 12028236 12034548 + 13568223 13574548 + 9847074 100133012 AC134879;NG_029074 CHEK2L1 CHK2 checkpoint homolog (S. pombe)-like 1 APPROVED pseudo 37999 INFERRED 5553011 CHEK2P2 checkpoint kinase 2 pseudogene 2 15 15 q11.1 18748808 18756847 + 20487997 20496811 + 15153943;16478982 646096 ABBA01113727;ABBA01139776;AC126603;AMYH01006136;BX336284;BX336285;NR_038836 Hs.448789 1791468;1791470;1792350 PMC111029P13;PMC111029P14;PMC149355P2 pseudo 43578 VALIDATED 6481553 CHEK2P3 checkpoint kinase 2 pseudogene 3 2 92151549 92151638 + 100873791 ABBA01048753;AC128677;AMYH01010667;NG_032562 pseudo 43579 INFERRED 1315612 CHD9 chromodomain helicase DNA binding protein 9 16 16 16 q12.2 37603818 37876244 + 51646446 51918915 + 53088945 53361414 + 6480464 16554032;17081983;16705189;16523501;16095617;14702039;12477932;10931946;9205841;8889548;20379614;19471022;21139048;21693764 80205 H3BRU9;H3BSP3;H3BTW3;H3BV31;I3L340;J3KRH9;J3KSW5;Q3L8U1;Q461N2 AB002306;ABBA01066486;ABBA01066487;ABBA01066488;ABBA01066489;ABBA01066490;ABBA01066491;ABBA01066492;AC007906;AC079416;AK022240;AK022582;AK092208;AK299045;AL693511;AMYH01007675;AY243500;AY243501;AY243502;AY243504;AY647157;BC022889;BC027491;BC033770;BC140815;BC144622;BM667038;BX390832;CH471092;DQ059482;DQ333316;NM_025134 AAH33770;AAI40816;AAI44623;AAQ24287;AAQ24288;AAQ24289;AAT66509;AAY87153;ABD24032;BAA20767;BAB14112;BAC03829;BAG61119;EAW82793;EAW82794;EAW82795;EAW82796;EAW82797;EAW82798;NP_079410;Q3L8U1 Hs.59159;Hs.622347 1340357;1678453;1684964;1687265;1687720;1736568;1781158;2148194;2159370;2161018;2191229;5021688;5122247 D16S2560E;D16S3034;D16S472E;G10682;G36101;MARC_16469-16470:1019838682:1;RH65296;RH75588;RH98880;RH99233;SHGC-60563;SHGC-61158;ksks178 AD013;CReMM;KISH2;PRIC320 ATP-dependent helicase CHD9;CHD-9;PPAR-alpha-interacting complex protein 320 kDa;PPAR{gamma}-interacting cofactor 320 kDa;chromatin remodeling factor CHROM1;chromatin-related mesenchymal modulator;chromatin-remodeling factor CHROM1;chromodomain-helicase-DNA-binding protein 9;ciprofibrate bound protein p240;kismet homolog 2;peroxisomal proliferator-activated receptor A-interacting complex 320 kDa protein;proteinx0008 protein-coding ENSG00000177200 25701 08570 VALIDATED 1605820 CHDC2 calponin homology domain containing 2 While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009] X X X p21.1 40192665 40290788 + 35974974 36073108 + 36065053 36163187 + 15772651;15489334;14702039;12477932;19377476 286464 Q5JRM7;Q8N9S7 ABBA01073530;ABBA01073531;ABBA01073532;ABBA01073533;ABBA01073534;ABBA01073535;ABBA01073536;ABBA01073537;ABBA01073538;ABBA01073539;AK093920;AL590065;AL603753;AMYH01022206;BC101698;BC101700;CH471074;NG_016381;NM_173695 AAI01699;AAI01701;BAC04251;EAW99076;NP_775966;Q8N9S7 Hs.376425 CXorf59;FLJ36601;MGC126747;MGC126749;RP13-11B7.1 OTTHUMP00000023134;calponin homology domain-containing protein 2;hypothetical protein LOC286464;uncharacterized protein CXorf59 APPROVED protein-coding ENSG00000176034 26708 06561 VALIDATED 1347167 CHDH choline dehydrogenase The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010] 3 3 3 p21.1 53817666 53847699 - 53826679 53855216 - 53850324 53880420 - 1580863;6480464;6907045 18230680;17975144;16816108;15489334;12477932;22387881;21308979;19737740;20031640;20175737;20237496;15146197;20662904;20877624;21900206;19471022;22558321 55349 C9J7D8;C9JYW4;Q8NE62 ABBA01024471;AC012467;AJ272267;AK297575;AMYH01013195;BC034502;BE856786;CH471055;CN285856;NG_028042;NM_018397 AAH34502;ACE86630;ACE87312;BAG59966;CAB75961;EAW65296;EAW65297;NP_060867;Q8NE62 Hs.126688;Hs.729536 1697434;2117719;5016781;5093926 A009Z06;G33005;RH102217;SHGC-67307 CDH;CHD;OTTHUMP00000212738;choline dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000016391 24288 13050 REVIEWED 1342489 CHD8 chromodomain helicase DNA binding protein 8 This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 14 14 q11.2 20923198 20975244 - 21853353 21905457 - 1580863;6480464;6907045 16949368;18378692;17938208;17081983;16964243;15489334;15367660;14702039;12477932;12168954;11744694;11549288;10997877;10921920;7505766;15456888;20215423;20936779;20308527;19454010;20453063;15146197;15960975;16344560;19151705;19255092;20085832;17846119;20811636;17000644;22083958;19471022;21139048;21693764;21906983;22586326;21653943;22495311;18729074;22505724 57680 G3V2T9;G3V303;H0YJA4;H0YJG4;Q8TBR9 AB046784;ABBA01061245;ABBA01061246;AK056639;AK098408;AK122868;AK122910;AK131077;AL135744;AL161747;AL834524;AMYH01005595;AW327785;BC011695;BC025964;BC036920;BC063693;BC073903;BC098452;CH471078;CN290520;CR749315;DA327823;DB344386;NG_021249;NM_001170629;NM_020920;U00930 AAH11695;AAH25964;AAH36920;AAH63693;AAH73903;AAH98452;AAI56440;BAB13390;BAC85127;CAD39180;CAH18170;EAW66385;NP_001164100;NP_065971;Q9HCK8 Hs.530698 1725367;1773999;1774001;2116672;2123649;2138900;2172357;2179329;2219128;5022026 A004V16;A005R45;BE589327;D14S1321;G20455;G36016;HELSNF1__6709;RH119001;WI-14045;WI-20203 AUTS18;DKFZp686N17164;HELSNF1;KIAA1564 ATP-dependent helicase CHD8;CHD-8;OTTHUMP00000244355;OTTHUMP00000244442;axis duplication inhibitor;beta-catenin binding protein-like;chromodomain-helicase-DNA-binding protein 8;duplin;helicase with SNF2 domain 1 APPROVED protein-coding ENSG00000100888 20153 16712 610528;615032 REVIEWED 1313214 CHERP calcium homeostasis endoplasmic reticulum protein 19 19 19 p13.1 16530540 16555103 - 16489700 16514263 - 16628700 16653263 - 1580863;6480464;6907045 8896557;15146197;12477932;10794731;21454501;12234937;16055720;23148228;22939629;12656674;19850743;20360068;17332742;18781797;21139048;21890473;21906983;22586326;20467438;21988832;22365833;22751105;23000965;15576338;22505724 10523 J3QK89;Q8IWX8 AA782418;AB209730;ABBA01051149;AC008764;AF536542;AK296883;AK298408;AMYH01009562;BC001552;BC021294;BC035039;CH471106;CN336425;NG_031959;NM_006387;U94836;Y08265 AAB53327;AAH21294;AAN77183;BAD92967;BAG59444;BAG60636;CAA69591;EAW84549;NP_006378;Q8IWX8 Hs.740364 1655567;1666730;1681901;1722419;1745927;1770250;2109135;2132389;2132914;2132916;2136396 1980;A001Y07;AF021124;CHERP_9130;D19S680E;G19773;G60283;G64277;RH16018;RH47535;RH93501 DAN16;SCAF6;SRA1 ERPROT 213-21;ERPROT213-21;OTTHUMP00000240723;OTTHUMP00000240724;SR-related CTD associated factor 6;SR-related CTD-associated factor 6;calcium homeostasis endoplasmic reticulum protein;protein with polyglutamine repeat protein-coding ENSG00000085872 16930 VALIDATED 732861 CHEK2 checkpoint kinase 2 In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 22 22 q12.1 27413731 27467822 - 29083731 29137822 - 1580863;1599601;2289704;2289706;2289703;2289705;2289707;2289708;2298483;2298484;2298482;2293868;2296067;2316155;2316156;6480464;6484113;6907045;7240710 11967536;17918154;17145815;18085035;17661168;17085682;12702777;11875739;11593395;16828850;17164260;18299147;19450511;16601750 10673500;12548019;12533788;12529183;12493754;12477932;12454775;12447371;12441400;12393693;12386164;12242661;12111733;12094328;12052256;12049741;12049740;12024051;11984555;11901158;11821419;11793476;11751432;11746983;11741546;11719428;11715017;11551930;11461078;11438675;11390408;11333986;11298456;11172707;11073977;10973490;10801407;10744722;10724175;10710310;12402044;9836640;9889122;10617473;19480937;19451272;19401704;19399639;19372713;19338683;19338682;19265784;19177012;19176998;19151762;19124506;19124502;19116388;19064572;19062161;19030985;19021634;19020308;18996005;18971944;18957425;18955500;18950845;18948271;18930998;18834326;18833288;18812180;18802408;18797466;18759107;18725978;18706089;18676774;18667510;18644861;18571837;18566483;18566216;18557994;18538787;18484200;18482988;18415014;18381943;18381420;18321553;18317453;18297428;18281249;18270339;18253122;18178638;18175216;18172190;18167186;18162465;18086786;18086781;18058223;18024013;18004398;17876702;17721994;17715138;17705858;17698850;17694537;17684142;17671118;17663721;17634426;17544403;17517688;17464182;17428325;17428320;17409195;17409144;17380889;17372254;17341484;17333477;17333333;17317627;17250914;17214356;17178848;17169815;17164383;17132695;17132159;17113724;17106448;17101782;17040931;17030982;17026620;16998506;16998498;16943424;16941491;16940182;16936775;16914568;16905549;16883537;16880452;16858628;16835864;16835227;16830057;16816021;16798742;16790090;16758118;16741947;16732333;16705183;16671833;16596250;16574953;16539695;16492927;16481012;16452051;16437383;16414312;16341674;16337852;16317088;16311512;16257342;16239104;16163388;16078115;16043347;15987456;15980987;15964795;15942682;15876876;15862297;15852425;15818573;15810020;15803365;15803363;15700044;15694385;15668230;15659650;15649950;15647386;15618221;15601819;15535844;15492928;15489334;15488637;15472904;15467464;15466005;15461802;15385111;17010071;15361853;15361851;15361830;15342622;15239132;15192702;15095295;15087378;15057041;15048074;15044452;15024084;14997059;14970869;14701743;14681223;14678969;14648717;14624239;14612911;14568168;14514889;14507240;12917215;12909615;12897801;12855706;12810724;12805407;12717439;12711320;12690581;12676583;12654917;12654916;12610780;12607004;12556502;12551934;15784679;22058216;22072393;22201027;14744935;15149599;15380617;16794575;17157788;19289404;19362748;19375317;19453842;19473886;19536092;19548527;19597488;19609724;19656415;10591208;10557092;10435585;10097108;9857181;9450932;9407135;9278512;15122511;16983346;18480045;18804494;17525332;15933716;15790808;15064416;22071692;22946335;19714462;20434834;20644561;20658728;20722467;19615254;21118956;19763819;19768534;19772467;19782031;19789190;19798429;19839522;19840931;19863560;19876921;19881958;19922265;19996108;20023412;20023427;20080130;20200249;20204303;20306497;20417869;20453000;20462940;20472656;20496165;20875877;21070773;21156285;20364141;20442702;17035231;20643596;20731661;12759351;20159774;20599567;20668524;20729852;20548946;20713355;18622427;21034966;20581449;21184685;19855918;14716295;21317874;22862163;22901170;21772273;20360068;21907711;21744992;20126263;23415889;22799331;23107771;23109433;21787115;10673501;21956126;21945852;21807500;21876083;19322201;19556897;21562711;21701879;22158418;22586065;22521562;21765476;21924579;22058428;22211259;22160829;22114986;20301425;21614566;22159226;22294770;22355270;22266820;22318606;22496453;22747683;22419737;21832049;22808196;22994785;23329222;23150219;21988832;23269272;23449389;22960999;10713094;22658458;23109706;23333640;22420423;12438214;14623252;17074762;15001356;17380128;19164952;19275588;21874023;21934670;22811390 11200 B7ZBF2;B7ZBF6;B7ZBF7;B7ZBF8;C9JFD7;E7EPP1;F8WCV2;H0Y4V6;H0Y820;H7BZ30;H7C0V7;Q9HCQ8 AB040105;ABBA01055237;ABBA01055238;ABBA01055239;AF086904;AF096279;AF174135;AF217975;AJ131197;AJ783839;AK289360;AK290754;AL117330;AL121825;AMYH01012691;AW778747;AY551295;AY551296;AY551297;AY551298;AY551299;AY551300;AY551301;AY551302;AY551303;AY551304;AY551305;AY800241;BC004207;BM838597;CH471095;CR456418;NG_008150;NM_001005735;NM_001257387;NM_007194;NM_145862 AAC83693;AAD11784;AAD48504;AAG17218;AAH04207;AAS58456;AAS58457;AAS58458;AAS58459;AAS58460;AAS58461;AAS58462;AAS58463;AAS58464;AAS58465;AAS58466;AAV41895;ABM84059;ABM87412;BAB17231;BAF82049;BAF83443;CAA10319;CAG30304;CAH04270;CAK54410;CAK54709;EAW59754;EAW59755;EAW59756;EAW59757;NP_001005735;NP_001244316;NP_009125;NP_665861;O96017 Hs.291363;Hs.505297 1336715;1791462;1791464;1791466;1791468;1791470;1791472;1791474;1791476;1791478;1791480;1791482;1791484;1791486;1792350 D22S275;PMC111029P1;PMC111029P10;PMC111029P12;PMC111029P13;PMC111029P14;PMC111029P2;PMC111029P3;PMC111029P4;PMC111029P5;PMC111029P6;PMC111029P7;PMC111029P8;PMC111029P9;PMC149355P2 CDS1;CHK2;HuCds1;LFS2;PP1425;RAD53;hCds1 CHK2 checkpoint homolog;OTTHUMP00000198969;OTTHUMP00000198970;OTTHUMP00000199044;OTTHUMP00000199045;OTTHUMP00000199064;OTTHUMP00000199115;OTTHUMP00000199116;cds1 homolog;checkpoint-like protein CHK2;serine/threonine-protein kinase Chk2 2303083 MAMTS47_H APPROVED protein-coding ENSG00000183765 16627 05084 114480;176807;259500;604373;609265 REVIEWED 1314932 CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 12 12 q24.33 131927011 131974257 - 133416938 133464204 - 6480464 16751776;21575600;18504434;10935642;19469003;19182791;18763281;18623126;18592005;18335050;18172500;18079053;17786301;17673375;17596595;17442268;17201143;16554732;15937956;15760919;15674323;15489334;15467728;15342556;15302856;15201973;14702039;14695171;14694445;14654793;14638868;14612512;14562038;12810945;12538348;12477932;12376479;12121644;11948416;11912157;11807090;16169070;15793587;22159584;19549727;20564104;20734064;20473935;20880844;19448676;19584075;19634111;19787237;20082478;20388495;21302620;23131550;23241409;20942233;20300977;21551253;21768102;20109344;21409489;22070084;22337872;21706008;22469813;19321445;22318606;22285184;22493164;23454125 55743 F5GWH4;F5H375;F5H5P5;F5H7R8;F5H829;J3KN56;Q96EP1 ABBA01042541;ABBA01042542;ABBA01042543;ABBA01042544;AC127070;AF170724;AK001658;AK027687;AK054917;AK090948;AK097671;AK302785;AK304333;AL137561;AMYH01004923;BC012072;BP313700;CH471218;DQ599878;NM_001161344;NM_001161345;NM_001161346;NM_001161347;NM_018223 AAF91084;AAH12072;ABM83158;ABM86359;BAA91817;BAB55297;BAG53509;BAG63989;BAG65178;CAB70812;EAW54809;EAW54810;EAW54811;EAW54812;EAW54813;EAW54814;EAW54815;NP_001154816;NP_001154817;NP_001154818;NP_001154819;NP_060693;Q96EP1 Hs.720197 1675750;1688897;1694748;2110313 CHFR__4564;G43576;RH98685;RH98884 FLJ10796;FLJ33629;RNF116;RNF196 E3 ubiquitin-protein ligase CHFR;OTTHUMP00000237376;OTTHUMP00000237377;OTTHUMP00000237440;OTTHUMP00000237441;RING finger protein 196;checkpoint with forkhead and RING finger domains protein APPROVED protein-coding ENSG00000072609 20455 605209 VALIDATED 6904333 CHIAP1 chitinase, acidic pseudogene 1 1 111793634 111799338 + 100420342 ABBA01068396;AL513202;AMYH01000946;NG_027127 1764025 SHGC-147681 pseudo 44462 INFERRED 730836 CHGA chromogranin A (parathyroid secretory protein 1) The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Other peptides, including chromostatin, beta-granin, WE-14 and GE-25, are also derived from the full-length protein. However, biological activities for these molecules have not been shown. [provided by RefSeq, Jul 2008] 14 14 q32 92459198 92471391 + 93389445 93401638 + 1580863;6480464;6906907;6907055;6906902;6906900;6906901;6906903;6906897;6906898;6907050 2189303;10803489;20113265;20729505;20663522;18235090;21061160;20730520;11257446 12165659;9115255;21478104;8406464;19652998;19520754;19366853;19321999;19090560;19058139;19017515;18981630;18832606;18771509;18724010;18721831;18635750;18591442;18549351;18549247;18432188;18374882;18329114;18271679;18262756;18158567;18074379;18061980;18046660;17991725;17985422;17929277;17889508;17718510;17599769;17578828;17510497;17438154;17438153;17438105;17379958;17293489;17126478;17060047;17032650;17003646;16807684;16504480;16450720;16408221;16344560;16330879;16199891;16151967;16007257;15956083;15788643;15648545;15542860;15489334;15462496;15337252;14997482;14968443;14759560;14740315;14734634;12826904;12692477;12687271;12477932;12456801;12442257;12438141;12432071;12397377;12388744;22449227;12091348;11342539;9852066;8910482;8617499;8577930;8125298;8120054;8096340;7768066;3814131;3762065;3718511;3704195;3403545;2830133;2445752;2165909;1577173;21884005;22674297;20213742;20807312;20172008;19337629;19565071;19724850;19747727;19794299;19855234;19943077;20033364;20043075;20087896;20139771;20930149;21115933;20193177;20550951;20833163;21046450;21046454;21046455;21080056;21349414;21357258;21044118;20640434;22343505;23105094;23314748;21325453;22524436;21431800;21483253;22388654;22699394;21508845;20335134;22720672;21825034;21463431;21900206;21362443;21551321;21558123;21945155;23173843;21872447;21980038;21994954;21918574;22035982;23292839;22529895;22487376 1113 G3V2Q7;G5E968;P10645;Q86T07 ABBA01030443;ABBA01030444;AK223381;AK313757;AL117192;AMYH01005963;BC001059;BC006459;BC009384;BC012755;BT006869;BX248263;CH471061;DA201149;J03483;J03915;NM_001275;U03742;U03746;U03747;U03749 AAA52017;AAA52018;AAB53685;AAH01059;AAH06459;AAH09384;AAH12755;AAP35515;ABM82746;ABM85933;BAD97101;BAG36496;CAD62591;EAW81505;EAW81506;NP_001266;P10645 Hs.150793 1772724;1790323;1797086;2121193;2135751;2149174;5023489 CHGA;CHGA-1;RH11257;RH68966;STS-J03915;STS-W32275;hschga1 CGA OTTHUMP00000245492;OTTHUMP00000245494;OTTHUMP00000245495;SP-I;betagranin (N-terminal fragment of chromogranin A);chromogranin-A;parathyroid secretory protein 1;pituitary secretory protein I APPROVED protein-coding ENSG00000100604 1929 07170 118910 REVIEWED 6904273 CHIAP3 chitinase, acidic pseudogene 3 100996315 ABBA01068397;AL356387 pseudo 44464 MODEL 737067 CHGB chromogranin B (secretogranin 1) This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009] 20 20 pter-p12 5840168 5854003 + 5891974 5906007 + 1580863;6480464 3608978;18180394;17143778;16807684;16199891;16169070;15489334;15219467;15138309;14997482;14506248;12826904;12692477;12477932;12438147;12165659;12133905;12091348;11959426;11931350;11854265;11780052;10391491;9588759;9199667;8125298;7891024;3970711;3678488;1882087;1769666;1518561;19913121;20628086;18721831;20007371;20011129;20359597;20431044;8889548;20888525;20932227;21046454;21046455;21832049;21900206;21852239 1114 P05060 AB209712;ABBA01053893;AK225125;AK289386;AK293536;AK312237;AL035461;AMYH01011696;BC000375;BM681923;BP422638;CH471133;CR456726;DC312240;NM_001819;Y00064 AAH00375;ABM82341;ABW03436;ACE86485;ACE87166;BAD92949;BAF82075;BAG35170;BAG57018;CAA68271;CAG33007;EAX10410;NP_001810;P05060 Hs.516874 1722325;1775118;2123504;2217150 CHGB_2985;D20S732;G60229;SGC30394 SCG1 OTTHUMP00000030215;cgB;chromogranin-B;secretogranin B;secretogranin I;secretogranin-1;sgI APPROVED protein-coding ENSG00000089199 1930 07512 118920 REVIEWED 732419 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009] 1 1 q32.1 201414682 201422545 - 203148059 203155922 - 1580863;4892633;4892643;4892603;4892630;4892634;4892621;4892629;4892645;4892662;4892666;4892597;4892637;4892644;4892653;4892665;4892624;4892628;4892641;4892660;4892664;4892626;4892605;4892604;4892651;4893904;4892620;4892640;4892627;4892632;4892638;4892658;4892663;4892642;5024918;6480464;6907045;7240710 18480670;16456816;12889595;19568425;15763444;11161003;19961288;16930142;11986266;16195162;18703386;12124825;16361549;20888745;17627189;12598313;21143859;16372331;20564116;18054022;10515841;10461474;10073974;20558631;18685790;11752453;15541818;18957531;18003958;12883737;20656949;19414556;17023034;10616010 20540736;20047081;22103814;22036069;8245017;19536175;19421404;19264973;19255724;19106306;19089918;19070929;19003601;18802121;18767121;18723551;18708058;18650368;18615353;18570155;18490894;18403759;18281018;18280741;18217402;18190830;18182077;18157633;18092325;17957792;17712177;17631744;17599744;17565739;17545529;17543889;17236752;17160890;17020973;16960935;16955240;16818690;16344560;16234240;15867231;15829322;15788675;15569925;15489334;14702039;14555515;12957359;12933821;12851408;12799184;12775711;12759455;12477932;12435396;12071845;12069012;10772238;9492324;9417865;9244440;8125298;2375755;21258804;22056877;22351690;22480951;22366530;22572101;20012147;20499402;21272568;20674561;19197227;19200605;19308408;19550125;19644363;19666003;19694834;19701838;19765801;19767768;20051317;20099501;20224722;20226308;20237129;20300754;20356987;20424473;20538957;20650887;20640910;20840668;20943784;20056225;20174854;20347092;20800603;20926018;20972697;21257319;21159401;20506295;21029458;23291472;22209156;22809439;21385870;21530869;21478032;21391238;21978279;22642467;21496058;21715039;22146624;20961744;21159721;21934681;21782391;21953450;21714862;23071724;23227243;21831900;22095223;22281830;21820815;21858537;21949714;22986489;21642896;22140133;22209020;22554524;22433444;21968467;22534532;22074331;22211103;22655594;22647735;23190377;23226395;23272150;22989351;23364142;23397672;23525579;23279705;23197259;22583189;22937056;22183936;22628227 1116 H0Y3U8;P36222 AB209459;ABBA01027484;AC105940;AJ251847;AK095458;AK130142;AK130200;AK225266;AK225584;AK312911;AMYH01001654;BC008568;BC034684;BC038354;BC039132;BT007223;BX648308;CH471067;DA167112;M80927;NG_013056;NM_001276;Y08374;Y08378 AAA16074;AAH08568;AAH38354;AAH39132;AAP35887;ABM81703;ABM84863;ACE86529;ACE87208;BAD92696;BAG35757;BAG53058;CAA69661;CAB76472;EAW91467;EAW91468;NP_001267;P36222 Hs.382202;Hs.733359 2123621;2218378 CHI3L1_4566;SHGC-76167 ASRT7;CGP-39;DKFZp686N19119;FLJ38139;GP-39;GP39;HC-gp39;HCGP-3P;YKL-40;YKL40;YYL-40;hCGP-39 39 kDa synovial protein;OTTHUMP00000039087;cartilage glycoprotein 39;chitinase-3-like protein 1 APPROVED protein-coding ENSG00000133048 1932 03314 181500;601525;611960 REVIEWED 732292 CHEK1 checkpoint kinase 1 The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 q24.2 125001547 125030847 + 125495031 125546150 + 1580863;2317235;2316155;2316156;2316109;2317234;6480464;6484113;6907045 15448002;19450511;16601750;11278490;18381943 11836499;15798197;16330544;16963448;17157788;17292828;9278512;9278511;12791985;9382850;12399544;19546241;19487575;19401701;19276361;19270516;19242509;19177015;19124506;19119425;19091954;19064572;19064565;19060337;18983824;18950845;18820127;18723495;18698031;18676680;18671143;18642443;18632613;18566216;18550533;18495871;18480045;18469532;18451105;18448427;18434539;18424430;18346918;18339864;18331829;18317453;18270339;18247328;18243098;18239674;18229454;18159231;18088187;18071310;18029388;17986860;17962807;17912454;17879369;17726372;17716975;17684142;17638866;17611684;17544403;17491592;17468739;17464182;17408908;17296736;17276342;17274954;17106257;17102638;17015476;17003105;16951182;16927022;16912045;16885021;16880517;16873548;16828751;16732333;16652144;16649252;16629900;16619043;16581803;16501606;16414312;16280359;16217032;16163388;16159883;16137618;16123041;15974586;15961392;15870257;15831461;15775976;15761153;15743907;15710331;15707391;15705874;15699047;15688426;15665856;15659650;15655357;15650047;15647386;15601819;15539958;15526025;15489334;15342556;15326376;15324660;15311285;15279790;15225637;15220350;14988723;14759516;14681223;14681206;14657349;14624239;14570880;14559997;14504477;12959929;12955071;12902976;12813133;12791699;12766152;12759351;12756247;12738771;12676962;12676925;12676583;12660173;12588868;12477932;12446774;12244092;12150968;12062056;11912127;11896572;11821419;11709713;11551930;11535615;11390642;11333986;11329013;11252893;10859164;10761933;10717241;10681541;10673501;10557092;9765199;16306615;12963847;15364958;10608806;15735702;11799067;21401699;22505024;22433954;22556425;22585575;19808933;21154811;22044003;22134241;22553144;22692200;20159774;21118956;21440578;20616048;20644561;19714462;20495005;20567916;15149599;17290223;18614046;19170196;19453842;19473886;19477924;19570909;19584159;19625176;19628579;19690177;19692168;19694479;19716789;19743875;19778378;19828454;19837665;19838212;19843865;19861535;19903823;19931269;20029092;20068082;20090422;20146081;20233725;20453000;20496165;20508983;20053681;20123862;20599444;20805465;16705183;16783362;16511572;20562859;19615254;20514472;20639859;17035231;20731661;21034966;21173116;17991895;21212274;20719863;21383502;22855742;21557990;20716119;21171266;21845734;19593445;23068608;23085068;23109433;21179472;21502314;21389083;21615992;21301228;21628425;16344560;20940144;21680529;8889549;20360068;20969866;21051833;21532626;23255133;17686975;20932473;22469983;23383610;23455922;23533280;21832049;22939629;22942255;23383273;21921034;22184239;21752283;21907702;20581453;22080164;17370265;21566061;21858151;21139048;21890473;21906983;21995812;22357623;21988832;22863316;22939624;23000965;23269272;21803008;22106282;22159421;22203733;22318606;22529391;22401965;21145461;22621920;11016625;19330022;22435685;22743332;17210576;17380128;19275579;20609246;22231448;22505724 1111 B4DT73;E7EPP6;E9PJI4;E9PKQ3;E9PM65;E9PPA5;E9PQW7;E9PRU7;J3KN87;O14757 AA224205;AB032387;AB451222;AB451345;ABBA01031239;AF016582;AF032874;AF527555;AI750792;AK292549;AK293143;AK299783;AK300082;AMYH01004108;AP001132;AW149126;AY304548;BC004202;BC017575;BG191840;BG216281;BG218896;BG468734;BM455102;BP203333;BP207812;BX114781;BX419129;BX506561;CA441277;CA868104;CH471065;DA567616;JF289264;NG_030049;NM_001114121;NM_001114122;NM_001244846;NM_001274;NR_045204;NR_045205 AAB88852;AAC51736;AAH04202;AAH17575;AAM78553;AAQ76038;ABM83833;ABM87141;AEB71796;BAA84577;BAF85238;BAG56691;BAG61665;BAG61885;BAG70036;BAG70159;EAW67644;NP_001107593;NP_001107594;NP_001231775;NP_001265;O14757 Hs.24529;Hs.595920 1662302;1675325;1684369;1724463;1849525;2107811;2117514;2128475;2140209;2141028;5037552 A006U05;ACRV1;ACRV1_8189;D11S2092;D8S2279;RH122396;RH17743;RH36540;RH66419;RH92593;WI-7841 CHK1 CHK1 checkpoint homolog;Checkpoint, S. pombe, homolog of, 1;Chk1-S;OTTHUMP00000231300;OTTHUMP00000231301;OTTHUMP00000231306;OTTHUMP00000231307;OTTHUMP00000231309;cell cycle checkpoint kinase;checkpoint kinase-1;serine/threonine-protein kinase Chk1 APPROVED protein-coding ENSG00000149554 1925 04356 603078 REVIEWED 1350449 CHI3L2 chitinase 3-like 2 The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 1 p13.3 110017275 110033061 + 111571804 111587585 + 111770281 111786062 + 1580863;6480464 8702629;18029348;16341674;12477932;12435396;8125298;20379614;22742450;23291184;22211103;22190034;23558346;22505724 1117 E9PII8;E9PIX1;E9PP75;E9PPX4;E9PR52;E9PRL9;H0YD88;H0YE91;H0YEJ1;Q15782 ABBA01068396;AK223316;AK298466;AL513202;AMYH01000946;BC011460;BG698401;BM787868;BQ181849;BT006767;CH471122;NM_001025197;NM_001025199;NM_004000;U49835;U58514;U58515 AAB04533;AAB04534;AAC50597;AAH11460;AAP35413;ABM84631;BAD97036;BAG60679;EAW56480;EAW56481;NP_001020368;NP_001020370;NP_003991;Q15782 Hs.514840 1693070;1778510;1857449 AL034262;SHGC-75289;SHGC-75295 CHIL2;YKL-39;YKL39 OTTHUMP00000014028;OTTHUMP00000233337;OTTHUMP00000233339;OTTHUMP00000233340;OTTHUMP00000233343;chitinase-3-like protein 2;chondrocyte protein 39 APPROVED protein-coding ENSG00000064886 1933 03315 601526 REVIEWED 1606703 CHIAP2 chitinase, acidic pseudogene 2 1 1 1 p13.2 110070129 110075713 + 111624669 111630255 + 111823146 111828730 + 6480464 12477932;17720922;19442228 149620 ABBA01068396;AL513202;AMYH01000946;BC031662;CH471122;NR_003928 EAW56483;EAW56484 Hs.736960 RP11-165H20.1 APPROVED pseudo ENSG00000203878 44463 12595 PROVISIONAL 1604020 CHIA chitinase, acidic The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 p13.2 111635007 111664708 + 111833474 111863188 + 4990463;4996473;4990459;5024919;5037227;5024927;5037226;5024922;5024921;4985150;4893904;6480464;6907045 14734765;16179638;18482441;17450126;19379605;16871939;20226308;19548841;15192232;18685790 11085997;10548734;19342690;19258923;19247692;18824549;18602573;17703412;16584180;15489334;12971947;12477932;20538957;19242357;19085022;19435888;19644363;20422678;20444155;20503287;20800603;21303604;21159721;21511453;21711963;22200767;23129258 27159 A8K3T7;E9PLJ2;H7BXH6;Q1M0P3;Q1M0P4;Q2VT96;Q5VUV5;Q9ULY4 AB025008;AB025009;ABBA01068396;AF290004;AK098814;AK290702;AL356387;AL513202;AMYH01000946;AY789444;AY789445;AY825504;AY911310;AY911311;BC036339;BC047336;BC106910;BC139901;BC139920;CH471122;NM_001040623;NM_001258001;NM_001258002;NM_001258003;NM_001258004;NM_001258005;NM_021797;NM_201653 AAG60019;AAH36339;AAH47336;AAI06911;AAI39902;AAI39921;AAX54833;AAX81431;AAX81432;AAX81433;AAX81434;BAA86980;BAA86981;BAF83391;EAW56485;EAW56486;EAW56487;EAW56488;NP_001035713;NP_001244930;NP_001244931;NP_001244932;NP_001244933;NP_001244934;NP_068569;NP_970615;Q9BZP6 Hs.128814 1775036;2217152 AL009809;CHIA_2695 AMCASE;CHIT2;DKFZp313J1722;TSA1902 OTTHUMP00000012864;OTTHUMP00000012865;OTTHUMP00000012866;OTTHUMP00000233469;OTTHUMP00000233472;acidic mammalian chitinase;lung-specific protein TSA1902 APPROVED protein-coding ENSG00000134216 17432 09355 606080 REVIEWED 1349014 CHIC1 cysteine-rich hydrophobic domain 1 X X X q13.2 73066460 73190414 + 72699709 72823662 + 72782984 72906937 + 6480464 15772651;15489334;12477932;11257495;9321471;21987572;21139048;21890473;21906983;23000965 53344 B7Z4S5;Q5VXU3;R4GN46 ABBA01059653;ABBA01059654;ABBA01059655;ABBA01059656;ABBA01059657;ABBA01059658;ABBA01059659;ABBA01059660;ABBA01059661;ABBA01059662;ABBA01059663;AK057786;AK295903;AK297768;AL356513;AL358796;AL832095;AMYH01022611;BC050300;BC127727;BC127728;BC136691;BC136692;CH471104;CR627010;CR936642;DC382882;NM_001039840;Y11897 AAI27728;AAI27729;AAI36692;AAI36693;BAH12217;BAH12661;CAI56782;EAW98663;NP_001034929;Q5VXU3 Hs.496323 1655499;1694794;1697000;1722375 G43618;G60259;RH101974;RH47603 BRX;DKFZp313P1931;DKFZp686F2342 OTTHUMP00000023567;OTTHUMP00000023568;brain X-linked protein;cystein-rich hydrophobic domain 1;cysteine-rich hydrophobic domain 1 protein protein-coding ENSG00000204116 1934 VALIDATED 1319536 CHIC2 cysteine-rich hydrophobic domain 2 This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008] 4 4 4 q11 52375088 52430482 - 54570713 54625545 - 54875956 54930815 - 1580863;6480464;7240710 19118897;16189514;15489334;12842979;12477932;11257495;10477709;21963094;23000965;19060904;16344560;22558309;21987572;21909110;21139048;21890473;21906983;19322201;20963938;22053931;22505724 26511 D6RDW7;H0Y8H1;Q9UKJ5 ABBA01003396;ABBA01003397;AC110792;AF159423;AK312427;AMYH01014184;BC034691;BI828538;CH471057;DA746525;NG_028924;NM_012110 AAD55981;AAH34691;ABM81637;ABM84819;BAG35336;EAX05453;NP_036242;Q9UKJ5 Hs.335393 2109137 CHIC2_9491 BTL;MGC21173 BRX-like translocated in leukemia;OTTHUMP00000128296;OTTHUMP00000218650;OTTHUMP00000218651;OTTHUMP00000218652;cystein-rich hydrophobic domain 2;cysteine-rich hydrophobic domain 2 protein APPROVED protein-coding ENSG00000109220 1935 10373 601626;604332 REVIEWED 5144382 CHL1-AS2 CHL1 antisense RNA 2 3 3 3 p26.3 182839 184488 - 212441 214090 - 237441 239090 - 21216876 642891 AC066595;AMYH01012927;XM_003960326;XM_931148 XP_003960375;XP_936241 Hs.570612 CHL1 antisense RNA 2;CHL1 antisense RNA 2 (non-protein coding) APPROVED protein-coding 40147 MODEL 1604072 CHKA choline kinase alpha The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q13.2 67576902 67645434 - 67820326 67888858 - 6480464;6907045 18654987;19270695;10363580;19448670;19156696;18296102;18172309;17184542;16820874;15489334;15003397;14702039;12477932;12176020;12082619;12062430;11840339;9113621;9038210;8069533;1618328;208357;36885;19737740;19855431;19915674;20042122;20299452;21048031;20662904;21163940;21832049;21822308;22038995;23416529;21890473;23071593;22515519;22017875 1119 E9PM06;H0YD02;P35790 ABBA01024016;ABBA01024017;ABBA01024018;ABBA01024019;AI809679;AK054792;AK092643;AL834403;AMYH01003755;AMYH01003756;AMYH01003757;AMYH01003758;AP002807;AP002992;BC036471;BE260889;BG703955;BG723115;BI195927;BU617910;CH471076;D10704;NM_001277;NM_212469 AAH36471;BAA01547;EAW74694;EAW74695;EAW74696;NP_001268;NP_997634;P35790 Hs.77221 1298330;1643858;1687778;1738031;1770730;2107927;2122154;2159070;5015619;5015861;5015961;5020881;5021872;5022450;5022651;5024761;5037552;7185938 CHKA_8254;D10S16;D10S275;D11S2921;D11S3114;D11S3651;D11S4327;D11S987;D15S1477;D8S2279;L17709;RH36905;RH47025;RH94200;STS-H94874;WI-17872;sY3084 CHK;CK;CKI;EK CHETK-alpha;OTTHUMP00000235913;OTTHUMP00000235915;choline kinase alpha;ethanolamine kinase APPROVED protein-coding ENSG00000110721 1937 00327 118491 REVIEWED 5132985 CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009] 22 22 22 q13.33 34883323 34897461 - 49354156 49368260 - 51007290 51021428 - 10918069;11258795;12477932;20967262;8889548;10493829;18820697 386593 H3BT56 AB051457;ABBA01042624;AK301477;AMYH01012917;BC131570;CA312186;NG_012643;NR_027928;U62317 AAI31571;BAB33340;BAH13492 Hs.439777 1684156;1747343;2107005;2129706;2144462;2168853;2168855;2178120;2191233;2191657 A005A09;CPT1B_7768;D22S970E;D22S975E;G20256;G65458;MARC_16689-16690:1017862088:1;MARC_4143-4144:996679424:1;SHGC-34107;STS-T55238 CHKL-CPT1B;FLJ56256;KIAA1670;MGC149140 APPROVED miscrna ENSG00000254413 41998 VALIDATED 1604307 CHID1 chitinase domain containing 1 11 11 11 p15.5 934938 982508 - 858396 900823 - 867859 915058 - 6480464 19275751;16357325;16344560;16303743;15489334;14702039;12477932;8125298;20379614;17207965;20724479;21832049;21906983;21963094;23558346 66005 E9PI70;E9PIP0;E9PJ91;E9PJL0;E9PKF1;E9PPA0;E9PPH0;E9PQZ0;E9PRL3;H0YC89;H0YCC4;H0YDL6;H0YEA3;J3KNL3;Q9BWS9 ABBA01015214;ABBA01015215;AF212229;AK027711;AK075413;AK124697;AK225025;AK225398;AK297743;AK301245;AMYH01003296;AP006623;AY037151;BC000001;BC013642;BC095409;BI759317;BI818660;BI821281;BN000479;CH471158;CK904484;CQ893561;CS051217;DA983719;FB746685;NM_001142674;NM_001142675;NM_001142676;NM_001142677;NM_023947 AAH00001;AAH13642;AAH95409;AAK14915;AAK67632;ADQ32365;BAB55316;BAC11603;BAG54072;BAG60093;BAH13441;CAF32458;CAH68702;CAI72104;CAV31088;EAX02413;EAX02414;EAX02415;NP_001136146;NP_001136147;NP_001136148;NP_001136149;NP_076436;Q9BWS9 Hs.144468 1667707;1764577;1772168;2124048;2159421;2176188;5037552 D8S2279;RH12084;RH47630;RH65976;RH69933;SHGC-148169;WI-18565 FLJ42707;GL008;MGC3234;SI-CLP OTTHUMP00000164438;OTTHUMP00000230013;OTTHUMP00000230014;OTTHUMP00000230015;chitinase domain-containing protein 1;stabilin-1 interacting chitinase-like protein;stabilin-1-interacting chitinase-like protein protein-coding ENSG00000177830 28474 14550 VALIDATED 1313797 CHIT1 chitinase 1 (chitotriosidase) Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012] 1 1 q32.1 201452418 201465399 - 203185207 203198860 - 1580863;6480464;6907045;7240710 16107886;22206738;9748235;9402970;19536175;18845328;18609101;18355455;18324378;18190830;18069420;18068392;18054022;17976376;17916351;17765019;17693102;17464953;17460177;17291472;17290100;17136386;17106626;17075695;16848812;16712652;16110781;15702402;15489334;15342556;15218258;14702039;14551607;12893688;12482412;12477932;12221666;11960986;9492324;8125298;7836450;7592832;22200767;19913121;20628086;20538957;19347743;19415692;19644363;19725875;19808030;19881466;19958755;20178893;20226308;20331735;20422678;20580583;19925532;20797781;20800603;19242357;20819891;22826322;22718099;23331560;21159721;21711963;21640089;22192075;22183425;22014002;22132778;21674664;22770630;23706714;23129258;23234739;22878841 1118 D6REY1;G5EA51;Q9UDJ8 ABBA01027484;AC105940;AI697695;AK055165;AK131093;AK225245;AK309341;AK314331;AMYH01001654;BC069614;BC103695;BC105680;BC105681;BC105682;BP297140;BP304256;BQ029424;BX096812;BX099272;CH471067;NG_012867;NM_001256125;NM_001270509;NM_003465;NR_045784;NR_045785;U29615;U62662 AAC50246;AAG10644;AAH69614;AAI03696;AAI05681;AAI05682;AAI05683;BAC85143;BAG51478;EAW91469;EAW91470;EAW91471;NP_001243054;NP_001257438;NP_003456;Q13231 Hs.201688 1645978;1685500;1781704;2159264;2217154;5014053 CHIT1_2836;D1S3693;G29124;RH81001;SHGC-155193;SHGC-76163 CHI3;CHIT;CHITD;FLJ00314;MGC125322 OTTHUMP00000039092;OTTHUMP00000217083;OTTHUMP00000217084;OTTHUMP00000217085;chitinase-1;chitotriosidase-1;plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase APPROVED protein-coding ENSG00000133063 1936 02494 600031 REVIEWED 4892546 CHMP1AP1 charged multivesicular body protein 1A pseudogene 1 1 1 1 p35.3 26408964 26409595 - 27885907 27886538 - 28013320 28013951 - 646597 ABBA01034985;AL445490;AMYH01000423;NG_007362 APPROVED pseudo 39514 VALIDATED 1604071 CHKB choline kinase beta Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009] 22 22 q13.33 49364253 49368260 - 51017387 51021428 - 6480464;6483361;6483443;6483442;6483363;6907045 21665002;18820697;19404393;21750112 18996102;15489334;15461802;15003397;14702039;12477932;11258795;10918069;10706593;22177342;9487136;9370318;19913121;20602615;20628086;16344560;19915674;20299452;20651826;20716336;18029348;20301468;15174051 1120 Q9Y259 AB003286;AB029885;AB029886;ABBA01042624;AK097775;AK314324;AL096780;AL096781;AMYH01012917;BC024286;BC037162;BC050443;BC056404;BC082263;BC101488;BC113521;BE676287;CH471138;CR456419;DB106393;NG_012643;NG_029213;NM_005198;U62317 AAB03342;AAH82263;AAI01489;AAI13522;ADR82980;BAA21491;BAA82511;BAA82512;BAG36972;CAB46629;CAB46630;CAG30305;CAK54411;CAK54710;EAW73573;EAW73574;EAW73575;NP_005189;Q9Y259 Hs.654827 2107005;2144462;2191233;2191657 CPT1B_7768;MARC_16689-16690:1017862088:1;MARC_4143-4144:996679424:1;STS-T55238 CHETK;CHKL;CK;CKB;CKEKB;EK;EKB;MDCMC CK;CKB;EK;OTTHUMP00000196839;choline kinase-like protein;choline/ethanolamine kinase;choline/ethanolamine kinase beta;ethanolamine kinase beta APPROVED protein-coding ENSG00000100288 1938 07631 602541;612395 REVIEWED 1346370 CHL1 cell adhesion molecule L1-like The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011] 3 3 p26.1 213650 426098 + 238279 451100 + 1358505;1580863;6480464;6483040;6483045 11986985;21452236;21337374 9799093;19064572;17592550;16597699;16335952;15704102;15653271;15489334;12477932;10508992;20634891;21658281;19509545;20298200;20379614;21216876;20339536;21332311;21408220;22988240;14702039;22744455;16344560;21860410;22041458;22219177;22581228;22634495;22909203;23251661 10752 C9J905;C9JEY3;C9JH37;C9JW79;F8WEP4;H7C0J0;O00533 AB209329;ABBA01020508;ABBA01020509;ABBA01020510;ABBA01020511;AC011609;AC026187;AC066595;AF002246;AK055236;AK126878;AL359583;AMYH01012927;AMYH01012928;BC104918;BC143496;BC143498;BF056756;CH471055;CR749682;DA778898;NM_001253387;NM_001253388;NM_006614;NR_045572;R40400 AAB60937;AAI04919;AAI43497;BAD92566;BAG54387;EAW63868;EAW63869;NP_001240316;NP_001240317;NP_006605;O00533 Hs.148909;Hs.731409 1337045;1662584;1665376;1672194;1672196;1715745;1733522;1735330;1735344;1739891;2110893;2130675;2163252;2163708;5119106 D3S1343E;D3S2359;D3S2955E;D3S2964E;D3S3190;D3S3491;D3S3938;D3S4559;RH119319;SHGC-76658;SHGC-76660;STS-H05873;WI-13429;WI-18532;WI-5378 CALL;DKFZp547L174;FLJ30674;FLJ44930;L1CAM2;MGC132578 L1 cell adhesion molecule 2;OTTHUMP00000115720;OTTHUMP00000206816;cell adhesion molecule L1-like;cell adhesion molecule with homology to L1CAM (close homologue of L1);close homolog of L1;neural cell adhesion molecule L1-like protein APPROVED protein-coding ENSG00000134121 1939 07598 607416 REVIEWED 732475 CHM choroideremia (Rab escort protein 1) This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] X X q21.2 85002841 85189222 - 85116185 85302566 - 1580863;704404;704419;6480464;7240710 8513495 8477262;8380507;7981670;19597113;19427510;19422966;19376587;18773267;18532927;18487380;18385043;18087237;18029348;17698759;16936131;16087855;15772651;15579993;15465555;15242790;15186776;14702039;14566650;12827496;12620235;12576024;12535645;12477932;11886217;11297488;11141079;10022613;9563513;9437002;8294464;7957092;7951216;2220804;2215697;1904992;1598901;1549574;1373238;1302003;21990357;19764077;20027300;20301511;22355242;21939745;22025891;21905166;22965595 1121 B4DRL9;P24386 ABBA01051724;ABBA01051725;ABBA01051726;ABBA01051727;ABBA01051728;ABBA01051729;ABBA01051730;ABBA01051731;ABBA01051732;ABBA01051733;ABBA01051734;ABBA01051735;ABBA01051736;ABBA01051737;ABBA01051738;ABBA01051739;ABBA01051740;ABBA01051741;ABBA01051742;ABBA01051743;AK095883;AK291160;AK299323;AK312443;AL009175;AL022401;AL035451;AL138748;AMYH01022662;AMYH01022663;AMYH01022664;AY255796;BC032237;BC063522;BC065702;BC073987;BC105969;BC130494;BC130496;CH471104;FB775572;M83773;NG_009874;NM_000390;NM_001145414;S37423;X57637;X78121 AAA61032;AAD13814;AAH65702;AAH73987;AAI05970;AAI30495;AAI30497;AAI56458;AAI72532;AAP15253;BAC04640;BAF83849;BAG61331;CAA40855;CAA55011;CAV30743;EAW98559;NP_000381;NP_001138886;P24386 Hs.496449 1669896;1701918;1702512;1715701;1743143;1743145;1744397;1745775;1745777;1745779;1745781;1745783;1745785;1745787;1770926;1793432;2109139;2120566;2137057;2161439;5016031;5016851;5017170;5117124 CHM;CHM_8255;DXS8326;GDB:271316;GDB:271320;GDB:437724;GDB:452659;GDB:636299;GDB:636308;GDB:636311;GDB:636322;GDB:636328;GDB:636338;GDB:636342;GDB:636348;GDB:636379;L29953;PMC22091P1;RH112;RH119297;RH46170;RH80031;STS-M83773;WI-11849 DXS540;FLJ38564;GGTA;HSD-32;MGC102710;REP-1;TCD OTTHUMP00000023628;OTTHUMP00000023629;Rab geranylgeranyltransferase component A;choroideraemia protein;choroideremia protein;rab escort protein 1;rab proteins geranylgeranyltransferase component A 1 APPROVED protein-coding ENSG00000188419 1940 02312;06563 118200;145900;180800;300390;303100;605253;607677;607736;607791 REVIEWED 1313260 CHML choroideremia-like (Rab escort protein 2) The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008] 1 1 q42-qter 239858789 239865855 - 241792166 241799232 - 1580863;5133238;6480464 18343558 1301160;18344558;16710414;16344560;16341674;15489334;15146197;14702039;12535645;12477932;12242008;11056004;9730828;8294464;8188272;7981670;7592656;19626040;16712791 1122 P26374 ABBA01033253;AF482426;AK000933;AK023423;AK314125;AL133390;AMYH01001875;BC117360;BG108374;BI088411;BM457359;BM470658;BM557064;BM763291;BM806625;BQ775652;BU187416;BU195066;CB160778;CH471098;CN415289;DA612361;NM_001821;X64728 AAI17361;AAO15716;BAG36816;CAA45979;EAW70100;NP_001812;P26374 Hs.654545 1687339;1752805;1772178;2130904;2185614 RH99149;SHGC-106687;SHGC-12642;SHGC-76595;SHGC-76599 FLJ10071;FLJ13361;REP2 OTTHUMP00000037644;REP-2, Rab escort protein 2;choroideraemia-like protein;choroideremia-like protein;rab escort protein 2;rab proteins geranylgeranyltransferase component A 2 APPROVED protein-coding ENSG00000203668 1941 00341 118825 REVIEWED 1603626 CHMP1B charged multivesicular body protein 1B CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 18 18 p11.21 11841426 11842697 + 11851389 11854448 + 6480464;6907045 16094257;17928862;19328558;18997780;17711858;16730941;16174732;21616915;15537668;15489334;14519844;14505570;14505569;12477932;11559748;11559747;11474171;19477918;17207965;16760479;19727025;21674799;20972266;21139048;21890473;21906983;19302785;19322201;20719964;21394083;21494275;21762796;21762798;22505724;22754649;19129480;19129479 57132 Q7LBR1 ABBA01074001;AF281064;AF306520;AK314068;AMYH01008819;AP005137;BC012733;BC065933;BX494191;CH471113;NM_020412 AAG01449;AAH12733;AAH65933;AAL48200;ADQ33194;BAG36769;EAX01575;NP_065145;Q7LBR1 Hs.656244 1701634;5014019;5020948 D5S2354;G35510;RH104461 C10orf2;C18-ORF2;C18orf2;CHMP1.5;Vps46-2;Vps46B;hVps46-2 OTTHUMP00000231067;charged multivesicular body protein 1b;chromatin modifying protein 1B;chromatin-modifying protein 1b;hVps46-2;vacuolar protein sorting 46-2;vacuolar protein sorting-associated protein 46-2 APPROVED protein-coding ENSG00000255112 24287 12106 606486 VALIDATED 1346526 CHMP1A charged multivesicular body protein 1A This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 16 16 q24.3 88238344 88251630 - 89710839 89724129 - 6480464 8863740;17928862;11559747;9837962;11559748;18787405;17711858;15489334;14519844;14505570;14505569;12477932;12445808;7584044;17353931;16730941;19640981;16760479;21674799;22939629;19129479;15604093;21139048;21705858;21890473;8889548;21988832;23000965;23023333;22261332;19302785;23273016;23456168;22053931;22505724 5119 A6NG32;F5H875;F8VUA2;F8VVT7;Q9HD42 ABBA01014138;ABBA01014139;ABBA01014140;AC010538;AF281063;AI356110;AI362697;AK302055;AMYH01007938;BC007527;BC010000;BC132711;BC132713;BG480548;BI826757;BT006841;BX363674;CF131483;CH471184;D38554;HY008690;HY089525;NG_033005;NM_001083314;NM_002768;NR_046418;U58048 AAC50775;AAG01448;AAH10000;AAI32712;AAI32714;AAP35487;ADR82857;BAA07557;BAG63445;EAW66715;EAW66716;EAW66717;NP_001076783;NP_002759;Q9HD42 Hs.589427 1656454;1667327;2181374 RH17441;RH66573;SHGC-61043 CHMP1;KIAA0047;PCH8;PCOLN3;PRSM1;VPS46-1;Vps46A OTTHUMP00000241410;OTTHUMP00000241411;OTTHUMP00000241412;OTTHUMP00000241413;charged multivesicular body protein 1/chromatin modifying protein 1;charged multivesicular body protein 1a;chromatin modifying protein 1A;chromatin-modifying protein 1a;hVps46-1;procollagen (type III) N-endopeptidase;protease, metallo, 1, 33kD;vacuolar protein sorting-associated protein 46-1;vps46-1 APPROVED protein-coding ENSG00000131165 8740 01237 164010;614961 REVIEWED 6480300 CHMP4BP1 charged multivesicular body protein 4B pseudogene 1 14 q22.3 55765320 55766214 + 17974005 100307126 P59074 ABBA01018205;AL158801;AMYH01005745;NG_013059 P59074 pseudo 43616 INFERRED 1603659 CHMP2A charged multivesicular body protein 2A CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 19 19 19 q 56106112 56109665 - 63754745 63758298 - 59062933 59066486 - 6480464;6907045 17928862;18687924;16730941;16565220;15489334;15173323;14702039;14519844;14505570;14505569;12665801;12477932;11559748;17159328;16760479;20708039;11031247;21543490;22939629;20972266;21139048;21890473;21906983;19302785;22505724;23027949;19525971;19129480 27243 M0QXX8;M0R1L7;M0R1T5;O43633 ABBA01020760;AC016630;AF042384;AJ277113;AK092868;AK311974;AMYH01010041;AY364248;BC002502;BC047005;BE856471;BG546479;BI457978;BT007298;BU147101;CH471135;CR457002;NM_014453;NM_198426 AAC00005;AAH02502;AAP35962;AAQ76807;ABM83513;ABM86731;BAG34913;CAC14310;CAG33283;EAW72608;EAW72609;EAW72610;EAW72611;NP_055268;NP_940818;O43633 Hs.12107 1669490;2110787;2161574;2191771;5015404;5015619;5020740;5024413 D11S3114;L17705;L17809;L17877;MARC_7283-7284:996687724:1;SHGC-30173;STS-N23430;UBE2M_7933 BC-2;BC2;CHMP2;VPS2;VPS2A VPS2 homolog A;charged multivesicular body protein 2a;chromatin modifying protein 2A;chromatin-modifying protein 2a;hVps2-1;putative breast adenocarcinoma marker (32kD);putative breast adenocarcinoma marker BC-2;vacuolar protein sorting-associated protein 2-1;vps2-1 APPROVED protein-coding ENSG00000130724 30216 12520 610893 VALIDATED 1603668 CHMP2B charged multivesicular body protein 2B This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008] 3 3 p11.2 87359287 87387339 + 87276413 87304698 + 4892619;5688398;5688716;5688397;5688721;5688711;5688712;6480464;6907045;7240710 19535733;16041373;19202337;22366797;16979267;16807408;20412296 17928862;11256614;19179627;19150442;19091059;18270236;17956895;17353931;16964243;16941655;16730941;16565220;16431024;16344560;16341674;16189514;15489334;15223008;14702039;14519844;14505570;14505569;12477932;11559748;11230166;10810093;10436350;8889548;8541850;8125298;16169070;20420883;19706893;20352044;20472325;18029348;20223751;20625756;20699355;21674799;22786763;11031247;21926173;21222599;21139048;19302785;21044950;22521643;22674379;20301378;22947304;23142962 25978 B2RE76;C9J0A7;Q9UQN3 ABBA01004629;AC123511;AC130885;AF151842;AK002165;AK002180;AK222654;AK296072;AK316585;AL080122;AMYH01013324;BC001553;BI821848;BM828410;BM982148;CH471110;CR533456;DA426159;NG_007885;NM_001244644;NM_014043 AAD34079;AAH01553;ACE86785;ACE87471;ADZ15822;BAD96374;BAG38173;BAG51022;BAG51025;BAG58830;CAB45721;CAG38487;EAW68868;NP_001231573;NP_054762;Q9UQN3 Hs.476930 1335615;1337903;1650649;1784828;2152066 D3S1284;D3S1603;RH66762;SHGC-155470;SHGC-77130 ALS17;CHMP2.5;DKFZp564O123;DMT1;VPS2-2;VPS2B OTTHUMP00000213795;OTTHUMP00000213812;OTTHUMP00000213813;VPS2 homolog B;charged multivesicular body protein 2b;chromatin modifying protein 2B;chromatin-modifying protein 2b;hVps2-2;vacuolar protein sorting-associated protein 2-2;vacuolar protein-sorting-associated protein 2-2 APPROVED protein-coding ENSG00000083937 24537 13174 600795;609512;614696 REVIEWED 1351348 CHMP3 charged multivesicular body protein 3 This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010] 2 2 p11.2 86584064 86644111 - 86730553 86790620 - 1299526;4892619;6480464 12878588;19535733 18687924;17711858;17686835;17331679;17261583;17146056;17081983;16730941;16554368;16302002;15815621;15707591;15489334;15231748;14519844;14505570;14505569;12477932;12194857;11549700;10810093;12775420;15632132;16431367;14702039;18395747;20805225;17159328;19525971;19615732;16344560;16760479;11031247;21543490;21674799;21832049;21827950;21139048;18654987;20427536;22797925;23027949 51652 Q9NZ51 ABBA01075783;ABBA01075784;AC015971;AC068288;AF151907;AF219226;AK025046;AK025260;AK095433;AK129502;AK290725;AK312353;AK315835;AMYH01010499;AMYH01010500;AY364249;BC004419;BG705423;BI562428;BU192410;CH471053;DA046087;DA290886;NM_001005753;NM_001193517;NM_016079;NR_036454 AAD34144;AAF26737;AAH04419;AAQ76808;AAX93078;AAY24211;ABZ92336;BAF83414;BAF98726;BAG35273;EAW99448;EAW99449;EAW99450;EAW99451;EAW99452;NP_001005753;NP_001180446;NP_057163;Q9Y3E7 Hs.591582 1739023;2125981;2139720;2179852 D2S1879;RH69455;RH78340;SGC31339 CGI-149;FLJ38114;NEDF;VPS24 25.1 protein;CHMP family, member 3;OTTHUMP00000203324;OTTHUMP00000203325;OTTHUMP00000203326;charged multivesicular body protein 3;chromatin-modifying protein 3;hVps24;neuroendocrine differentiation factor;vacuolar protein sorting 24 (yeast);vacuolar protein sorting 24 homolog;vacuolar protein sorting-associated protein 24 APPROVED protein-coding ENSG00000115561 29865 15650 610052 REVIEWED 1606751 CHMP4C charged multivesicular body protein 4C CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 8 8 8 q21.13 78649178 78676231 + 82807243 82834305 + 82644688 82671750 + 6480464;6907045 17711858;18511562;16730941;15489334;14678797;14583093;14519844;14505570;14505569;12860994;12477932;11031247;19302785;22422861;21988832;23535730;22724069;21394083;21494275;21762796;21762798 92421 Q96CF2 AB120734;ABBA01004050;AC132219;AK000049;AK314873;AMYH01018830;AY329086;BC014321;BQ778244;BX492886;CH471068;NM_152284 AAH14321;AAQ91195;BAC87888;BAG37388;EAW87107;NP_689497;Q96CF2 Hs.183861 1691256;5022322 D11S2560;RH99324 MGC22825;SNF7-3;Shax3;VPS32C OTTHUMP00000227312;SNF7 homolog associated with Alix 3;Snf7 homologue associated with Alix 3;charged multivesicular body protein 4c;chromatin modifying protein 4C;chromatin-modifying protein 4c;hSnf7-3;hVps32-3;vacuolar protein sorting-associated protein 32-3;vps32-3 APPROVED protein-coding ENSG00000164695 30599 18135 610899 VALIDATED 1342527 CHMP4A charged multivesicular body protein 4A CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 14 14 q12 23748627 23753025 - 24678787 24683036 - 6480464;6907045 17350572;18511562;18209100;17547705;16730941;16189514;15632132;15489334;14678797;14583093;14519844;14505570;14505569;12860994;12477932;11042152;8889548;20888838;11031247;17711858;22863883;22939629;22258254;21191027;21139048;21975012;22547407;18641129;19143627;21762796;21762798;21789505;22754649;22762019 29082 E9PQ80;E9PQI5;H0YI89;H0YIN6;Q14D22;Q9BY43 AB100262;ABBA01061337;AF161483;AF212243;AL096870;AL136295;AMYH01005610;AW732226;AY329084;BC010893;BC107699;BC113533;BC113535;BC143834;BM041056;CB241867;CH471078;NM_014169 AAF29098;AAH10893;AAI07700;AAI13534;AAI13536;AAK14928;AAQ91193;ADR82892;BAC79376;EAW66065;EAW66066;EAW66067;EAW66068;NP_054888;Q9BY43 Hs.279761 1646846;2160956 WI-14151;WI-15002 C14orf123;CHMP4;CHMP4B;FLJ61658;HSPC134;MGC142093;MGC142095;SNF7;SNF7-1;Shax2;VPS32-1;VPS32A OTTHUMP00000164694;OTTHUMP00000235236;OTTHUMP00000241219;SNF7 homolog associated with Alix-2;Snf7 homologue associated with Alix 2;charged multivesicular body protein 4a;chromatin modifying protein 4A;chromatin-modifying protein 4a;chromosome 14 open reading frame 123;hSnf-1;hVps32-1;vacuolar protein sorting-associated protein 32-1;vps32-1 APPROVED protein-coding ENSG00000254505 20274 16597 610051 VALIDATED 1320409 CHMP4B charged multivesicular body protein 4B This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009] 20 20 q11.22 31862780 31905831 + 32399110 32442173 + 6480464;6907045;7240710 18190528;12477932;19016654;18511562;18209100;19403673;22406677;17701905;17428861;16730941;16189514;15511219;15489334;15007060;14678797;14583093;14519844;14505570;14505569;12860994;21264300;11780052;17711858;11031247;21674799;22939629;22258254;20360068;21139048;21890473;21906983;21975012;17174262;20929444;19738201;22623428;23000965;23362303;21394083;21494275;22505724;23027949 128866 Q9H444 AB100261;ABBA01019216;ABBA01019217;AL050349;AMYH01011861;AY329085;AY726594;BC033859;BQ926070;BU150721;CH471077;CT001913;NG_015820;NM_176812 AAH33859;AAQ91194;BAC79375;EAW76293;EAW76294;NP_789782;Q9H444 Hs.472471 1653758;2114834 STS-AA029286;WI-21040 C20orf178;CHMP4A;CTPP3;CTRCT31;SNF7;SNF7-2;Shax1;VPS32B;Vps32-2;dJ553F4.4 OTTHUMP00000030668;SNF7 homolog associated with Alix 1;Snf7 homologue associated with Alix 1;charged multivesicular body protein 4b;chromatin modifying protein 4B;chromatin-modifying protein 4b;chromosome 20 open reading frame 178;hSnf7-2;hVps32-2;vacuolar protein sorting-associated protein 32-2;vacuolar protein-sorting-associated protein 32-2 APPROVED protein-coding ENSG00000101421 16171 16642 605387;610897 REVIEWED 1350634 CHODL-AS1 CHODL antisense RNA 1 21 21 q21.1 4386454 4436389 - 19207989 19257925 - 10830953;7757816 54075 ABBA01057126;AMYH01012150;AP000404;AP000745;NR_024354;T74237 Hs.404306 1727085 G62944 C21orf39;NCRNA00157 APPROVED miscrna 1279 VALIDATED 1314312 CHMP5 charged multivesicular body protein 5 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008] 9 9 p13.3 33255000 33271510 + 33264877 33282067 + 6480464;6907045 17353931;17711858;16730941;16189514;15644320;15489334;15164053;14519844;14505570;14505569;12477932;11559748;11042152;10810093;17855796;17708794;18426649;20932654;11031247;21674799;22863883;22939629;17261583;21543490;20164219;21139048;21890473;21906983;16009940 51510 Q9NZZ3 ABBA01065064;AF132968;AF161525;AF229832;AF275810;AI128062;AK024753;AK295744;AK315455;AL356472;AMYH01019322;BC006974;BC007457;BC016698;BC018603;BC020796;BC021168;CH471071;NM_001195536;NM_016410 AAD27743;AAF29140;AAF42917;AAG23821;AAH06974;AAH07457;AAH16698;AAH20796;AAH21168;ABM84105;ABM87478;ABM87479;BAG37842;BAG58578;EAW58512;EAW58513;NP_001182465;NP_057494;Q9NZZ3 Hs.635313 1687664;1796024 HSPC177__1182;RH47308 C9orf83;CGI-34;HSPC177;PNAS-2;SNF7DC2;Vps60 OTTHUMP00000021197;SNF7 domain containing 2;SNF7 domain-containing protein 2;apoptosis-related protein PNAS-2;charged multivesicular body protein 5;chromatin modifying protein 5;chromatin-modifying protein 5;chromosome 9 open reading frame 83;hVps60;vacuolar protein sorting-associated protein 60 APPROVED protein-coding ENSG00000086065 26942 15408 610900 VALIDATED 1343985 CHORDC2P cysteine and histidine-rich domain (CHORD) containing 2 pseudogene 14 14 14 q32.11 70248299 70252052 - 89271995 89274586 - 90201022 90204786 - 317775 ABBA01030513;AL137230;AMYH01005942;NG_002473 APPROVED pseudo 20050 INFERRED 1606234 CHMP6 charged multivesicular body protein 6 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012] 17 17 17 q25.3 75596098 75601620 + 76580290 76588528 + 78965641 78973933 + 6480464;6907045 16973552;17353931;16730941;15511219;15489334;15342556;14702039;14583093;14519844;14505570;14505569;12477932;11559748;8125298;16371348;17207965;18606141;19270365;19686684;11031247;22231449;18723511;21762798 79643 I3L3E4;I3L4A1;I3L4G8;Q96FZ7 ABBA01032123;AC127496;AK021811;AK223187;AK292105;AMYH01008702;AY329087;BC010108;BP196406;CH471099;CR457284;NM_024591 AAH10108;AAQ91196;ADQ33148;BAB13901;BAD96907;BAF84794;CAG33565;EAW89622;NP_078867;Q96FZ7 Hs.514560 1658115;5019132 GDB:313216;RH102270 FLJ11749;VPS20 charged multivesicular body protein 6;chromatin modifying protein 6;chromatin-modifying protein 6;hVps20;vacuolar protein sorting-associated protein 20 APPROVED protein-coding ENSG00000176108 25675 08564 610901 VALIDATED 1606515 CHP2 calcineurin-like EF-hand protein 2 This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013] 16 16 16 p12.2 22544109 22548418 + 23673449 23677757 + 23765948 23770256 + 6480464;6907045 17708351;16710297;12576672;12226101;12097419;10493829;8901634;18718049;21507922;21392185;22189947;18815128 63928 A8K2I8;O43745 ABBA01017075;AC012317;AC130454;AF146019;AK290253;AK313062;AMYH01007385;BF197519;CH471145;NM_022097 AAG14945;AAI52867;BAF82942;BAG35891;EAW55800;EAW55801;NP_071380;O43745 Hs.178589 1684341 RH98447 OTTHUMP00000162371;calcineurin B homologous protein 2;calcineurin-like EF hand protein 2;hepatocellular carcinoma antigen gene 520;hepatocellular carcinoma-associated antigen 520 APPROVED protein-coding ENSG00000166869 24927 14259 REVIEWED 1602310 CHMP7 charged multivesicular body protein 7 8 8 8 p21.3 22063710 22082082 + 23157114 23175452 + 23101150 23119512 + 6480464 16856878;17711858;16964243;16344560;16189514;15489334;14702039;12477932;19773279;11031247;18029348;21139048 91782 B3KUH0;B4DKJ6;E5RFR8;E5RIU9;E5RJI3;Q8WUX9 ABBA01005539;AC100861;AK021776;AK092500;AK097202;AK296592;AK315664;AL832313;AL833843;AMYH01018573;BC004344;BC019110;BC042050;CH471080;DB140277;NM_152272 AAH04344;AAH19110;AAH42050;BAG38030;BAG51048;BAG52561;BAG53432;BAG59208;CAD38703;EAW63631;EAW63632;EAW63633;EAW63634;NP_689485;Q8WUX9 Hs.5019 1648734;1750307;2191077 MARC_14383-14384:1007138470:1;SHGC-112620;STS-W49732 MGC29816 CHMP family, member 7;OTTHUMP00000162592;charged multivesicular body protein 7;chromatin-modifying protein 7 APPROVED protein-coding ENSG00000147457 28439 14534 611130 VALIDATED 732086 CHN1 chimerin 1 This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011] 2 2 q31.1 175372338 175578361 - 175664042 175870107 - 1580863;6480464;7240710 8336731;18826946;18653847;18249095;17197533;17197532;16344560;15815621;15761153;15489334;15013773;14702039;12477932;11438594;10577917;8496137;7867622;2299665;2268301;1445199;16169070;20535495;19541263;20034095;20379614;20468071;23284715;21555619;21715684;21715346;16221859;16273093;21900206;20301369 1123 B8ZZ96;C9J1N1;C9J3G1;C9J3V9;C9JR98;F8W6K2;F8WAY4;F8WCQ9;P15882 AB209788;ABBA01062199;ABBA01062200;ABBA01062201;ABBA01062202;AC007435;AC018890;AC020596;AK055060;AK289941;AK300890;AMYH01011284;BC011393;BQ893027;CH471058;CR456864;DA307367;DA516095;DB453430;DB548770;NG_012642;NM_001025201;NM_001206602;NM_001822;NR_038133;S75654;X51408;Z22641 AAB33506;AAH11393;AAY14688;AAY14940;ABM84710;ABM92230;BAD93025;BAF82630;BAG51458;BAG62531;CAA35769;CAA80354;CAG33145;EAX11117;EAX11118;EAX11119;EAX11120;EAX11121;NP_001020372;NP_001193531;NP_001813;P15882 Hs.380138 1298319;1649376;1663542;1681326;1751237;2116138;2117112;2120804;2153797;2170014 AFMA304WB1;D2S2314;D2S2876;RH12769;RH65493;RH70825;SHGC-105055;SHGC-12689;WI-15872;WI-19142 ARHGAP2;CHN;DURS2;NC;RHOGAP2 A-chimaerin;N-chimaerin;NC;OTTHUMP00000205333;OTTHUMP00000205334;OTTHUMP00000205335;OTTHUMP00000205339;OTTHUMP00000205340;OTTHUMP00000205342;Rho GTPase-activating protein 2;a2-chimaerin;alpha-chimerin;chimaerin 1;chimerin (chimaerin) 1;n-chimerin APPROVED protein-coding ENSG00000128656 1943 00319 118423;604356 REVIEWED 1320469 CHODL chondrolectin This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 21 21 21 q11.2 4792870 4815407 + 18539021 18561558 + 19400190 19639687 + 1580863;6480464 12079284;17606388;15489334;14702039;12975309;12621022;12477932;11707072;10830953;23568457;22016508;22318606 140578 Q9H9P2 ABBA01057129;ABBA01057130;ABBA01057131;ABBA01057132;ABBA01057133;ABBA01057134;AF130417;AF165175;AF257472;AF523313;AF523314;AF523315;AK022689;AK296009;AK313725;AL078474;AMYH01012151;AMYH01012152;AP000656;AP000998;AY358608;BC009418;CH471079;GM879243;HC466499;HC466501;HC466503;HC466505;HC466507;NG_029478;NM_001204174;NM_001204175;NM_001204176;NM_001204177;NM_001204178;NM_024944 AAH09418;AAL05981;AAP43902;AAP43903;AAP43904;AAQ88971;ABM84183;ABM87585;BAB14181;BAG36467;BAG58780;CAV13390;CBL54341;CBL54342;CBL54343;CBL54344;CBL54345;EAX10018;NP_001191103;NP_001191104;NP_001191105;NP_001191106;NP_001191107;NP_079220;Q9H9P2 Hs.283725 C21orf68;FLJ12627;MT75;PRED12 OTTHUMP00000083249;OTTHUMP00000083250;OTTHUMP00000083251;OTTHUMP00000083252;OTTHUMP00000083253;chondrolectin;transmembrane protein MT75 APPROVED protein-coding ENSG00000154645 17807 06261 607247 REVIEWED 1354352 CHR chromate resistance; sulfate transport 7177110;9732752 1125 1945 1350256 CHN2 chimerin 2 This gene is a member of the chimerin family and encodes a protein with a phorbol-ester/DAG-type zinc finger, a Rho-GAP domain and an SH2 domain. This protein has GTPase-activating protein activity that is regulated by phospholipid binding and binding of diacylglycerol (DAG) induces translocation of the protein from the cytosol to the Golgi apparatus membrane. The protein plays a role in the proliferation and migration of smooth muscle cells. Decreased expression of this gene is associated with high-grade gliomas and breast tumors, and increased expression of this gene is associated with lymphomas. Mutations in this gene have been associated with schizophrenia in men. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 p15.3 29200646 29520469 + 29234121 29553944 + 1580863;6480464 7614486;8175705;19306875;19201754;18519826;18249095;17803461;17560670;16525710;16428439;16352660;16344560;15863513;15761153;15653288;15507211;15489334;14702039;12877655;12853948;12716467;12690205;12477932;11689559;11278894;10518540;9334226;16169070;20602751;16628218;19720790;19911011;20335173;20379614;20460425;20818722;21911749;16273093;23251661 1124 A4D1A2;B3VCF7;B3VCG1;B7Z1V0;B7Z1W9;B8ZZU1;C9JQ94;F5GWP4;F5H003;H0YG02;H7C0V3;H7C138;J3KSU2;P52757 AA521339;AACC02000007;ABBA01056795;ABBA01056796;ABBA01056797;ABBA01056798;AC004417;AC004593;AC007255;AF147327;AK026415;AK123927;AK124021;AK126784;AK293959;AK294032;AK294216;AK294271;AK301235;AK313021;AK316030;AMYH01017140;AMYH01017141;AMYH01017142;BC112155;BQ446523;CH236948;CH471073;DA096970;DA105459;EU732750;EU732751;EU732752;EU732753;EU732754;EU732755;EU732756;EU732757;EU732758;EU732759;EU732760;EU732761;EU732762;EU732763;EU732764;EU732765;EU732766;GQ924106;NG_029365;NM_001039936;NM_004067;U28926 AAA86528;AAC06177;AAI12156;AAS02045;AAS07498;ACF04987;ACF04988;ACF04989;ACF04990;ACF04991;ACF04992;ACF04993;ACF04994;ACF04995;ACF04996;ACF04997;ACF04998;ACF04999;ACF05000;ACF05001;ACF05002;ACF05003;ADK47390;BAG35856;BAH11636;BAH11655;BAH11701;BAH11718;BAH13437;BAH14401;EAL24205;EAW93919;NP_001035025;NP_004058;P52757 Hs.654611;Hs.654753;Hs.663145;Hs.710429 1298142;1335719;1338415;1338444;1649190;1657618;1661445;1667241;1691692;1693672;1695704;1696418;1710540;1735694;1772687;1857181;2141796;2144404;2159328;2166503;2173264;2187771;5022200;5037552;5092816;7186751 A006G33;D7S1406;D7S1806;D7S1869;D7S1981;D7S2007;D7S2148E;D7S2403;D7S435;D7S617;D8S2279;G32348;G42164;G69451;GDB:1317316;GDB:1317330;L18426;RH12474;RH18025;RH70289;SHGC-32133;SHGC-58598;SHGC-78749;SHGC-83344;SHGC-86315 ARHGAP3;BCH;CHN2-3;MGC138360;RHOGAP3 OTTHUMP00000122624;OTTHUMP00000202260;beta chimerin;beta-chimaerin;beta-chimerin;beta3-chimaerin;chimaerin 2;chimerin (chimaerin) 2;rho GTPase-activating protein 3;rho-GTPase-activating protein 3 APPROVED protein-coding ENSG00000106069 1944 04173 602857 REVIEWED 1603198 CHPF chondroitin polymerizing factor 2 2 2 q35 214173632 214178450 - 220111922 220116682 - 220403669 220408487 - 6480464;6907045 22082830;15231747;15489334;15231748;14702039;12975309;12761225;12716890;12477932;11230166;16169070;20729547;22461910;21468578;21139048;21906983 79586 B4DXU0;F5H233;F8W6H2;Q8IZ52 AB086063;AB095813;ABBA01023840;AC009955;AK026331;AK302124;AL136814;AMYH01011509;AY358403;BC008878;BC021223;BC023531;CH471063;DC341343;NM_001195731;NM_024536 AAH08878;AAH21223;AAH23531;AAQ88769;BAB15449;BAC78393;BAC81536;BAG63502;CAB66748;EAW70764;EAW70765;EAW70766;EAW70767;EAW70768;EAW70769;EAW70770;NP_001182660;NP_078812;Q8IZ52 Hs.516711 1798760;1799050;1803172;1814974;1814976;1821248;1843444;1964794;1964796;1964798;1964800;1964802;1964804;1964806;1964808;1964810;1964812;1964814;1964816;1964818;1964820;1964822;1964824;1964826;1964828;1964830;1964832;1964834;1964836;1964838;1964840;1964842;1964844;1964846;1964848;1964850;1964852;1964854;1964856;2127754;2214044;2214046;2214048;2214050 ECD00220;ECD00370;ECD02477;ECD08518;ECD08519;ECD11701;ECD22931;REN53271;REN53272;REN53273;REN53274;REN53275;REN53276;REN53277;REN53278;REN53279;REN53280;REN53281;REN53282;REN53283;REN53284;REN53285;REN53286;REN53287;REN53288;REN53289;REN53290;REN53291;REN53292;REN53293;REN53294;REN53295;REN53296;REN53297;REN53298;REN53299;REN53300;REN53301;REN53302;RH48039;stSG633075;stSG633076;stSG633077;stSG633080 CHSY2;CSS2;FLJ22678 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II;N-acetylgalactosaminyltransferase 2;OTTHUMP00000064873;chondroitin glucuronyltransferase 2;chondroitin sulfate synthase 2;chondroitin-polymerizing factor;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II protein-coding ENSG00000123989 24291 10829 610405 VALIDATED 736499 CHP1 calcineurin-like EF-hand protein 1 This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008] 15 15 q13.3 39310729 39361377 + 41523437 41574085 + 6480464 8901634;18029348;19165527;18815128;18628988;17050540;16511206;15489334;15312048;15035633;14702039;12576672;12477932;12226101;12204119;11481038;11350981;10593895;8626580;7829101;16169070;21085126;16341674;19322201;15987692;20720019;21139048;21906983;22190034;23000965;23128233 11261 F5GX29;H0YKE7;H0YLX1;H0YLY7;H0YNG9;Q99653 ABBA01038418;ABBA01038419;AC012652;AK000095;AK094363;AK299660;AK307060;AK312582;AMYH01006568;AV761136;BC008373;BC031293;BE250654;BG398684;BI491312;BM828547;BQ213482;BX391712;CH471125;CR536539;CR542085;NM_007236;U61538 AAB37770;AAH31293;BAG35476;BAG61577;CAG38776;CAG46882;EAW92474;EAW92475;EAW92476;EAW92477;NP_009167;Q99653 Hs.406234;Hs.745372 1666063;2109141;5015404;5016596;5020946;5020948;5114480;5117897 CHP_9248;G35510;GDB:631802;GDB:631813;L17705;L17971;RH71243;WI-17591 CHP;FLJ20350;SLC9A1BP;Sid470p;p22;p24 EF-hand calcium-binding domain-containing protein p22;OTTHUMP00000160722;SLC9A1 binding protein;calcineurin B homolog;calcineurin B homologous protein 1;calcineurin B-like protein;calcineurin homologous protein;calcineurin-like EF hand protein 1;calcium binding protein P22;calcium-binding protein CHP;calcium-binding protein p22 APPROVED protein-coding ENSG00000187446 17433 06101 606988 REVIEWED 1312263 CHORDC1 cysteine and histidine-rich domain (CHORD) containing 1 11 11 11 q14.3 87234115 87257056 - 89574265 89595854 - 89933597 89956532 - 6480464 12477932;10571178;8125298;20800603;12965203;14702039;15642353;16083881;16344560;19875381;8889548;17207965;23184943;19910486;22863883;20360068;21139048;21890473;21906983;21963094;22318606;22190034 26973 E9PHZ2;E9PIF7;E9PIZ4;E9PL00;E9PPQ5;E9PSD5;Q9UHD1 ABBA01040072;AF123249;AF192466;AF217505;AK094608;AK225365;AK225565;AK226099;AK290231;AK312663;AMYH01003936;AP000648;AP002364;BC002339;BC017789;BC072461;BX537692;CB852298;CF146721;CH471065;CK300454;DA417105;NM_001144073;NM_012124 AAF18437;AAF67616;AAG43237;AAH17789;AAH72461;ADQ32065;BAF82920;BAG35545;EAW66867;EAW66868;EAW66869;EAW66870;EAW66871;NP_001137545;NP_036256;Q9UHD1 Hs.22857 1718115;1771135;2131328;5015861;7185938 D10S16;RH122818;SHGC-53779;SHGC-56951 CHP1;FLJ37289 CHORD-containing protein 1;CHP-1;OTTHUMP00000235676;OTTHUMP00000235678;chord domain-containing protein 1;cysteine and histidine-rich domain (CHORD)-containing 1;cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1;cysteine and histidine-rich domain-containing protein 1;protein morgana APPROVED protein-coding 14525 05072 604353 VALIDATED 1349185 CHPT1 choline phosphotransferase 1 12 12 12 q 101756108 101786875 + 100615548 100646977 + 102091417 102122846 + 1580863;6480464;6907045 10893425;16303743;15936720;14702039;12477932;12359261;19322201 56994 F8W1B3;H0YHV7;H0YI24;H0YI84;Q9NRQ6 ABBA01053237;ABBA01053238;AC010205;AC063950;AF047431;AF111803;AF195623;AF195624;AK075211;AK093067;AK226127;AMYH01004703;AY166717;AY166718;AY280609;AY280610;AY294627;BC020819;BC050429;CD300296;CH471054;CQ784008;NM_020244 AAD44019;AAF87947;AAF87948;AAH20819;AAH50429;AAL39005;AAN86122;AAN86123;AAP34412;AAP34413;AAP37157;BAG52084;BAG52647;CAF86967;EAW97673;EAW97674;EAW97675;EAW97676;EAW97677;NP_064629;Q8WUD6 Hs.293077 1648636;1698698;1714273;1767107;1782748;2109917;2150270;2152725;5015619;5015961;5022578;5114791;5123317 D11S3114;D15S1477;D1S1423;G31467;RH102909;RH119915;RH44831;RH77822;SHGC-172036;STS-R44048;SYCP3_9645;WI-14986;WI-20671 CPT;CPT1 AAPT1-like protein;OTTHUMP00000243813;OTTHUMP00000243814;OTTHUMP00000243815;cholinephosphotransferase 1;cholinephosphotransferase 1 alpha;diacylglycerol cholinephosphotransferase 1;hCPT1;phosphatidylcholine synthesizing enzyme protein-coding ENSG00000111666 17852 13052 VALIDATED 2902850 CHRFAM7AP1 CHRFAM7A pseudogene 1 Y Y q11.2 26019604 26020209 + 27610216 27610821 + 12815422;9847074 359999 AC006328;NG_004755 pseudo 37766 VALIDATED 2902897 CHRFAM7AP2 CHRFAM7A pseudogene 2 Y Y q11.2 24760999 24761604 - 26351611 26352216 - 12815422 359998 AC012005;NG_004755 pseudo 23937 VALIDATED 1604004 CHPF2 chondroitin polymerizing factor 2 7 7 7 q36.1 145486944 145493264 + 150560518 150566838 + 150929585 150935905 + 6480464;6907045 18316376;15489334;14702039;12975309;12477932;12145278;10718198;21468578 54480 C9JZF7;G5E9W2;H7C5L5;Q9P2E5 AACC02000108;AB037823;AB095812;ABBA01035160;AC021097;AK025885;AK025897;AK056331;AMYH01018144;AY358407;BC052944;BC064509;CH471173;NM_019015 AAH64509;AAQ88773;BAA92640;BAG30817;BAG51678;EAL24509;EAW54010;EAW54011;EAW54012;NP_061888;Q9P2E5 Hs.647084 1688328;2107009;2149938;2181139 CSGlcA-T__4645.2;G33154;RH91733;STS-R51978 CSGLCA-T;CSGlcAT;ChSy-3;KIAA1402 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase;OTTHUMP00000212063;OTTHUMP00000212170;OTTHUMP00000212304;chPF-2;chondroitin glucuronyltransferase;chondroitin sulfate glucuronyltransferase;chondroitin synthase 3;chondroitin synthase-3 protein-coding ENSG00000033100 29270 10474 608037 PROVISIONAL 1314650 CHRDL2 chordin-like 2 11 11 11 q14 71714346 71749059 - 74085122 74119834 - 74407474 74442186 - 6480464 19453261;15340161;15094188;14660436;12975309;12853144;12477932;18029348 25884 A8MQ10;H0YCU0;H0YDT1;Q6WN33;Q6WN34;Q9BZ90 ABBA01017480;AF332891;AK304519;AL047873;AL110168;AMYH01003813;AP001324;AY163868;AY279090;AY279091;AY279092;AY279093;AY279094;AY358522;BC142623;CH471076;JN579714;NM_001278473;NM_015424 AAG50288;AAI41565;AAI42624;AAI53101;AAO31809;AAQ19179;AAQ19180;AAQ19181;AAQ19182;AAQ19183;AAQ88886;AEV56635;BAG65323;CAB53666;EAW74944;EAW74945;NP_001265402;NP_056239;Q6WN34 Hs.432379 1659747;1737941;2111282 D11S1892;D11S3545;L18031 BNF1;CHL2;DKFZp586N2124;FKSG37 BNF-1;OTTHUMP00000230490;OTTHUMP00000230491;OTTHUMP00000230494;breast tumor novel factor 1;chordin-like protein 2;chordin-related protein 2 protein-coding ENSG00000054938 24168 09881 613127 VALIDATED 1348275 CHRD chordin This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] 3 3 q27 185580555 185590311 + 184097861 184107617 + 1580863;6480464;6484113;6907045 16449796;11472837;11790302;9782094;19453261;19058174;19023570;18533030;16713569;15489334;14759258;12975309;12477932;11992721;11260715;10648240;10480362;10479448;9110174;8619474;15775969;19913121;20628086;15064755;17474147;21988832 8646 B7Z6F4;E7ESX1;Q9P0Z3 AB208947;ABBA01058444;ABBA01058445;ABBA01058446;AC078797;AF038198;AF076612;AF136632;AF136633;AF136634;AF136635;AF209928;AF209929;AF209930;AF283325;AK074147;AK293456;AK295632;AK296316;AK300213;AK300476;AMYH01013719;AY358926;BC029879;BC112345;CH471052;NG_029559;NM_003741 AAC69835;AAF70236;AAF70237;AAF70238;AAF70239;AAG35767;AAG35768;AAG35769;AAG35784;AAH29879;AAI12346;AAQ89285;BAB84973;BAD92184;BAH11513;BAH12133;BAH12312;BAH13240;BAH13292;EAW78239;EAW78240;EAW78241;EAW78242;NP_003732;Q9H2X0 Hs.166186 1339634;1339805;1659907;1679658;1682531;1722403;1740259;1773047;1796940;2109143;5491523 CHRD_8840;D22S1175;D3S1682;D3S3578;D3S4165;G60274;MARC_16893-16894:1020710585:1;RH80423;RH91810;SHGC-35471;THPO_1099 MGC133038 OTTHUMP00000180571;OTTHUMP00000210476;OTTHUMP00000210477;chordin APPROVED protein-coding ENSG00000090539 1949 04592 603475 REVIEWED 6480853 CHRM3-AS1 CHRM3 antisense RNA 1 100873984 AI672277;AL356361;BX116264 Hs.199475 APPROVED miscrna 40150 5687892 CHRM3-AS2 CHRM3 antisense RNA 2 1 q43 239870426 239882419 - 100506915 ABBA01033223;AL513543;AL832284;AMYH01001872;CT002712;NR_103776;XR_110855;XR_133225;XR_171257 Hs.667175 1673304;1721331;1756267;2163376;2175116;2184489 D1S1817E;D1S2381;G59665;SHGC-143172;SHGC-76588;WIAF-1659 DKFZp667K2218 APPROVED miscrna ENSG00000233355 43725 VALIDATED 1349204 CHRDL1 chordin-like 1 This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009] X X X q23 110396687 110518880 - 109805129 109925649 - 109917084 110039286 - 1580863;6480464;6484113 15621726;17029022;18587495;15772651;15489334;15342556;14702039;12477932;11441185;11118896;17881565;19357253;20130390;21378988;22284829 91851 D3YTA8;Q9BU40 AA057564;AB209548;ABBA01043371;ABBA01043372;ABBA01043373;ABBA01043374;ABBA01043375;ABBA01043376;ABBA01043377;ABBA01043378;ABBA01043379;ABBA01043380;ABBA01043381;ABBA01043382;ABBA01043383;ABBA01043384;ABBA01043385;AK092245;AK293106;AK297563;AK312270;AL049176;AL591489;AMYH01022840;AY608913;AY608914;BC002909;BP377491;CH471120;DC404314;NG_012816;NM_001143981;NM_001143982;NM_001143983;NM_145234 AAH02909;AAU25841;BAD92785;BAF85795;BAG52508;BAG59955;EAX02655;EAX02656;EAX02657;NP_001137453;NP_001137454;NP_001137455;NP_660277;Q9BU40 Hs.496587 1670780;1691624;1774920;2137210;2160889;2168961;2169968;2203854;5023733 116YB8;AL022454;AL031572;AL032584;AU048745;DXS7506;DXS7756;STS-AA018704;stSG622307 CHL;NRLN1;VOPT;dA141H5.1 OTTHUMP00000023853;OTTHUMP00000023854;OTTHUMP00000216337;OTTHUMP00000216338;OTTHUMP00000226627;chordin-like protein 1;neuralin 1;neuralin-1;neurogenesin-1;ventroptin APPROVED protein-coding ENSG00000101938 29861 02285 300350 REVIEWED 1319606 CHRAC1 chromatin accessibility complex 1 CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] 8 8 8 q24.3 137690513 137696362 + 141590586 141596434 + 141521397 141527252 + 1580863;6480464 10880450;16344560;15489334;14702039;12477932;12434153;11000277;22242598;19505873;14759371;21832049;22863883;22939629;21172662;19471022;21139048;19322201;21628590 54108 E5RGS9;H0YBP8;H0YBX4;Q9NRG0 ABBA01013672;AC107375;AF226076;AK023537;AK308709;AL543044;AMYH01019067;BC015891;BU160855;CH471060;DA647606;DA887467;NM_017444;NR_023360;NR_040712 AAF72416;AAH15891;ABM86546;ABW03665;BAB14601;EAW92206;NP_059140;Q9NRG0 Hs.279704 1646487;2107929;2185895;5024039 CHRAC1__4568;D16S325;RH68212;SGC31771 CHARC1;CHARC15;CHRAC-1;CHRAC-15;CHRAC15;YCL1 CHRAC-1;CHRAC-15;DNA polymerase epsilon subunit p15;OTTHUMP00000226200;chromatin accessibility complex 15 kDa protein;chromatin accessibility complex protein 1;histone-fold protein CHRAC15;huCHRAC15 APPROVED protein-coding ENSG00000104472 13544 06275 607268 VALIDATED 1351978 CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008] 15 15 q13.1 28440735 28473156 - 30653443 30685864 - 19462340;19149910;19082523;17192894;17012698;16823804;16572171;16417613;15885267;15489334;14729617;12477932;11829490;11424985;9782083;22300029;19631623;19641318;20351714;20926142 89832 H3BPP0;P36544;Q494W8 ABBA01143601;AC019322;AF029838;AF029839;AF036903;AF037646;AF332759;AK292984;AMYH01006504;BC101345;BC101346;BC101347;BC101348;BQ720423;NM_139320;NM_148911 AAI01346;AAI01347;AAI01348;AAI01349;BAF85673;NP_647536;NP_683709;Q494W8 Hs.510853 1645403;1674139;1684648;1739479;1774054;2113848;2113858;2123911;2161475;2170635;2178849;5017979 CHRFAM7A_s9;CHRNA7;D15S610E;D15S937;RH11309;RH26807;RH78395;SHGC-12902;SHGC-36068;STS-X70297;UniSTS:479961;WI-19149 CHRNA7;CHRNA7-DR1;D-10;MGC120482;MGC120483 CHRNA7-FAM7A fusion protein;alpha 7 neuronal nicotinic acetylcholine receptor-FAM7A hybrid;alpha-7 nicotinic cholinergic receptor subunit APPROVED protein-coding ENSG00000166664 15781 18704 609756 REVIEWED 731068 CHRM1 cholinergic receptor, muscarinic 1 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008] 11 11 q13 62432727 62445588 - 62676151 62689012 - 734777;1580863;5133415;5133416;6480464 12483218;17764462;16931638 21605442;18322150;18282687;18272392;18249005;18073210;17655760;17540859;17462859;17373692;17272726;16902941;16877267;16874522;16439611;16406470;16368694;16336219;16328454;15489334;15383745;15280370;15086532;14504414;12851722;12810581;12707929;12694403;12477932;12476323;12049494;11855742;11306684;10336173;10333492;9518684;9303164;8938448;8248499;8190105;8063729;3697105;3037705;2674717;2336407;1905013;1445347;9614217;8139539;9603968;2739737;1411529;3443095;8508928;7925360;19183167;19156168;19086053;18723515;18454168;18385290;19913121;20602615;20628086;16754659;15452121;16318751;18240029;18317461;18790604;19404243;19451648;19753311;19863190;19874574;19927300;20133736;20201926;20237496;17415969;18577758;20146726;21203415;22865467;21685390;22146060;22990911;14657398;22450048;22571431;22391213;20467438;23147108 1128 F5GZF8;P11229;Q53XZ3;Q96RH1 ABBA01003250;AF385587;AF498915;AJ006520;AK312374;AMYH01003691;AP000438;BC007740;BC022984;BT007166;CH471076;NM_000738;X15263;X52068;Y00508 AAH07740;AAH22984;AAK68112;AAM18938;AAP35830;ABM81651;ABM83646;ABM86895;BAG35292;CAA07081;CAA33334;CAA36291;CAA68560;EAW74124;EAW74125;EAW74126;NP_000729;P11229 Hs.632119 1658241;1742559;1794888;2107931 CHRM1;CHRM1_8256;GDB:197880;PMC65026P1 HM1;M1;M1R;MGC30125 OTTHUMP00000236792;acetylcholine receptor, muscarinic 1;muscarinic acetylcholine receptor M1 APPROVED protein-coding ENSG00000168539 1950 00338 118510 REVIEWED 1350007 CHRM5 cholinergic receptor, muscarinic 5 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. [provided by RefSeq, Jul 2008] 15 15 q26 32097720 32144579 + 34261089 34357287 + 1580863;6480464 3272174;1905013;8063729;8663391;19156168;19086053;19058789;17951979;17608938;17373692;16877267;15292665;14702039;12675126;12477932;11855742;11306684;10336173;9733718;8576254;8248499;2540186;19913121;20628086;15452121;18240029;19874574;19944766;20379614;16754659 1133 H0YKC0;P08912;Q8IVW0 AB084282;ABBA01038546;ABBA01038547;AC009268;AC069045;AF026263;AF385591;AF498919;AK095198;AMYH01006509;BC041805;BC068528;CH471125;M80333;NM_012125 AAA51569;AAB95158;AAH41805;AAH68528;AAK68116;AAM18942;ACE87817;ACT64560;ADZ15989;BAB91222;EAW92282;EAW92283;NP_036257;P08912 Hs.584747 1698216;1777191;2140555;2154212;5095179 CHRM5_s11;D15S1263;RH102644;RH69182;WI-15231 HM5;MGC41838 OTTHUMP00000159731;acetylcholine receptor, muscarinic 5;muscarinic acetylcholine receptor M5 APPROVED protein-coding ENSG00000184984 1954 00331 118496 VALIDATED 68976 CHRM4 cholinergic receptor, muscarinic 4 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008] 11 11 p12-p11.2 46363216 46364683 - 46406640 46408107 - 1580863;1642301;6480464 16497176 12476323;12048193;11855742;11306684;10737800;10336173;9843378;8576254;8248499;7916637;3272174;2674717;2570410;1577490;12505680;12477932;9603968;2739737;3443095;3037705;19156168;18337477;18282687;17373692;15489334;15263021;20406819;2834384;18577758;15452121;18240029;19874574;21295605 1132 P08173;Q96RG8 ABBA01060748;AC116021;AF385590;AF498918;AMYH01003534;BC095546;BC119775;BC119817;BC137535;BQ322895;CH471064;M16405;NM_000741;X15265 AAA51571;AAH95546;AAI19776;AAI19818;AAI37536;AAK68115;AAM18941;CAA33336;EAW68004;NP_000732;P08173 Hs.248100 1683467;1742505;1768483;2186400;2218750;5492439 CHRM4__4571;GDB:197831;RH27302;RH78928;STS-M16405;UniSTS:481077 HM4;M4R OTTHUMP00000205575;acetylcholine receptor, muscarinic 4;muscarinic acetylcholine receptor M4 APPROVED protein-coding ENSG00000180720 1953 00330 118495 REVIEWED 733234 CHRM2 cholinergic receptor, muscarinic 2 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 q31-q35 136203939 136352311 + 136553399 136701771 + 1358507;1580863;5509584;5509587;5509585;5509574;5509586;5509581;5509583;5509579;6480464 12116189;19103464;20830301;9148906;20691427;19308904;19958780;19500151;20351719 21441226;17996044;17890226;17851256;17601350;17567401;17552496;17468496;17373692;17335853;17160701;17123299;17081262;16855219;16823639;16818863;16501017;16381901;16368694;16336219;16181410;16000316;15489336;15489334;15379890;15255931;15210286;15086532;14751843;14512373;12825791;12810581;12774299;12694864;12690205;12477932;12381439;12093817;11855742;11600475;11552008;11306684;11230166;11076863;10952973;10929429;10895079;10336173;9579781;9063897;8576254;8288567;8248499;7797501;7579899;2674717;2249995;9603968;8139539;2739737;10544184;3037705;3443095;19418213;19183167;19181679;19156168;19086053;18979273;18977241;18618671;18563417;18524769;18451336;18348264;18316677;18282687;17999088;21176104;19913121;20602615;20628086;11256614;16548883;18240029;19374848;19626040;19644963;19874574;20051519;20125193;20201926;20304928;20351714;20379614;18577758;22610841;17065150;20146726;21494862;22948826;22575825;22965232;21457223;21883161;22278061;21816540;19322201 1129 A4D1Q0;P08172;Q6SL56;Q6SL59;Q86SJ1 AACC02000025;AB041391;ABBA01001138;ABBA01001139;AC009264;AC020581;AF385588;AF498916;AK125233;AK290236;AL832585;AMYH01017963;AY034603;AY034604;AY034605;AY219703;AY219704;AY219705;AY456125;AY456126;AY456127;AY456128;AY456129;BC095547;BC106741;BC106742;CH236950;CH471070;HC295424;M16404;NG_011846;NM_000739;NM_001006626;NM_001006627;NM_001006628;NM_001006629;NM_001006630;NM_001006631;NM_001006632;X15264 AAA51570;AAH95547;AAI06742;AAI06743;AAK68113;AAM18939;AAO23567;AAO23568;AAO23569;AAO65595;AAO65596;AAO65597;AAR14890;AAR14891;AAR14892;AAR14893;AAR14894;BAA94476;BAF82925;CAA33335;CAL38394;CBJ06536;EAL24054;EAW83865;EAW83866;NP_000730;NP_001006627;NP_001006628;NP_001006629;NP_001006630;NP_001006631;NP_001006632;NP_001006633;P08172 Hs.743546 1698638;1751839;1778390;1790325;2117755;2129218;2154066;2160530;2183131;2187259;5492571 AFMA129WE9;CHRM2;GDB:1317550;GDB:1317998;GDB:1318056;RH102876;RH48062;SHGC-105841;SHGC-35608;STS-AA015944;UniSTS:481709 FLJ43243;HM2;MGC120006;MGC120007 7TM receptor;OTTHUMP00000208393;OTTHUMP00000208394;OTTHUMP00000208395;OTTHUMP00000208396;acetylcholine receptor, muscarinic 2;cholinergic receptor, muscarinic 2, isoform a;muscarinic M2 receptor;muscarinic acetylcholine receptor M2 APPROVED protein-coding ENSG00000181072 1951 00328 118493 REVIEWED 735581 CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal) 11 11 11 p15.5 3691897 3697694 - 3643393 3649190 - 3686817 3692614 - 1580863;6480464 11350119;19259974;19156168;17559419;17373692;15531379;12477932;11752216;20584212;18420419;20231857;20379614;19760673;20734064;22774872 57053 E9PNT7;E9PNX2;Q9GZZ6 ABBA01032051;AC060812;AF199235;AF327367;AJ278118;AJ295237;AMYH01003347;BC136250;BC143303;CH471158;NM_020402 AAG00795;AAI36251;AAI52765;AAK14333;CAC16144;CAC20435;EAX02560;NP_065135;Q9GZZ6 Hs.732806 1797390 CHRNA10_67.2 NACHR alpha-10;OTTHUMP00000013620;acetylcholine receptor, nicotinic, alpha 10 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 10;neuronal acetylcholine receptor subunit alpha-10;nicotinic acetylcholine receptor subunit alpha-10 APPROVED protein-coding ENSG00000129749 13800 09395 606372 PROVISIONAL 732599 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012] 2 2 q31.1 175320566 175337427 - 175612320 175629200 - 704386;1580863;6480464;7240710 10606626 7619526;6688857;9221765;8872460;9546329;18252226;12928480;19307444;19259974;19086053;19010884;18806275;18625075;18179903;17687331;17373692;17082486;17028140;16435141;15079006;15028279;12588888;12477932;12015305;10958399;10910772;10195214;9158151;8910344;8441631;8334706;7902325;7863154;7725386;7695910;7254233;3651795;3338555;2449458;2221824;1712080;1694127;1397297;19913121;20628086;19760673;20201926;20379614;20661225;20734064;19059502;22728938;20301347 1134 B8ZZD3;E7ENE5;F8WDS3;G5E9G9;P02708;Q53SH4 ABBA01062197;ABBA01062198;AC018890;AK291338;AK299445;AK315312;AMYH01011284;BC006314;BC043196;BG828551;CD013889;CH471058;DQ323657;DQ323658;NG_008172;NM_000079;NM_001039523;S77094;X02502;X17104;X70108;Y00762 AAD14247;AAY14687;ABD27888;ABD27889;BAF84027;BAG37716;BAG61418;CAA26344;CAA34960;CAA49705;CAA68731;EAX11124;EAX11125;EAX11126;EAX11127;EAX11128;NP_000070;NP_001034612;P02708 Hs.434479 1672318;2117224;5095181 CHRNA1;D2S1411;D2S2716 ACHRA;ACHRD;CHRNA;CMS2A;FCCMS;SCCMS OTTHUMP00000163187;OTTHUMP00000205172;OTTHUMP00000205173;OTTHUMP00000205174;OTTHUMP00000205175;acetylcholine receptor subunit alpha;acetylcholine receptor, nicotinic, alpha 1 (muscle);cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle);muscle nicotinic acetylcholine receptor;nicotinic acetylcholine receptor alpha subunit;nicotinic cholinergic receptor alpha 1 APPROVED protein-coding ENSG00000138435 1955 00007 100690;253290;601462;608930 REVIEWED 734195 CHRM3 cholinergic receptor, muscarinic 3 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. [provided by RefSeq, Jul 2008] 1 1 q43 237858996 238139343 + 239792373 240072720 + 1580863;734983;5133439;5133438;5133441;5133437;5133440;5133442;6480464 11242080;20150622;18348887;19281093;20394512;18480105;17922784 9547368;1905013;10940357;9603968;8063729;2739737;10051746;3443095;19247692;19240061;19183167;19156168;19086053;19033440;18996102;18563417;18524769;18422974;18385290;18348264;18272392;18249005;18070938;17951979;17890325;17851256;17637176;17554300;17513382;17373692;17335853;17192665;17130513;17005862;16710414;16368694;16303743;16113538;15870063;15769745;15725576;15489334;15383626;15280370;15263021;14977875;14702039;14573754;12799371;12694864;12649280;12642833;12477932;12381439;12194018;12126481;11877431;11867338;11856737;11665980;11306684;11238933;10777483;10336173;9740233;8576254;8248499;8016895;7629074;3272174;3037705;2674717;20602615;15452121;18240029;19182865;19460789;19575010;19626040;19648965;19668880;19669628;19751772;19874574;19927300;20332620;21224444;20519144;17065150;21041608;20489201;20146726;20613776;16754659;19951374;20395537;21507922;21118716;22610841;22466417;22511543;21245133;22893470;22899762;21450750;23509962;21685385;21873996;21940308;22077972;22192964;22137887;22178951;21877253;21798865;22410194;22500107;22510450;22564786;22949513;23400010;23142559;22691178;23227858;23521066 1131 B1AN12;P20309 AB041395;ABBA01033221;ABBA01033222;ABBA01033223;ABBA01033224;ABBA01033225;AC104460;AF279779;AF385589;AF498917;AK056349;AK074575;AL356361;AL357499;AL513543;AMYH01001872;AMYH01001873;BC096844;BC121026;BC121027;BX099030;CH471098;CQ782536;NG_032046;NM_000740;U29589;X15266 AAA70337;AAG30036;AAH96844;AAI21027;AAK68114;AAM18940;ACE86798;ACE87485;BAA94480;CAA33337;CAF85818;EAW70076;EAW70077;EAW70078;NP_000731;P20309 Hs.7138 1673304;1692260;1705966;1710732;1721331;1726731;1755411;1756267;1760765;1777784;1790327;1849912;1852710;1853644;2116041;2162078;2163376;2166227;2175116;2179917;2184489;2186657;2219780 AFMA072XA5;AL009307;AL009400;AL009465;AL009667;AL034024;CHRM3;CHRM3_4570;D1S1817E;D1S2381;G16250;G59665;G62753;SHGC-142291;SHGC-143172;SHGC-144279;SHGC-76586;SHGC-76588;SHGC-76591;SHGC-79693;SHGC-83993;WI-10464;WIAF-1659 EGBRS;HM3 OTTHUMP00000037632;OTTHUMP00000037633;acetylcholine receptor, muscarinic 3;m3 muscarinic receptor;muscarinic acetylcholine receptor M3 APPROVED protein-coding 1952 00329 100100;118494 REVIEWED 735907 CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009] 8 8 p21 27373195 27392730 - 27317278 27336813 - 1580863;6480464;7240710 8906617;19383498;19307444;19259974;19156168;19086053;19058950;18991851;18588430;18384978;18226955;18165968;17602836;17559419;17373692;16826524;16421571;16344560;15996750;15028279;12783266;12121305;10336173;9193799;8996215;7708749;7570187;1505988;20584212;19059502;12477932;20201926;20231857;20734064;20736995;21287502;20301348 1135 E5RGP6;E5RGT4;E5RHQ4;E5RJ54;E5RK67;J3KMY9;Q15822 ABBA01005588;AF311103;AK296348;AK308465;AK314787;AMYH01018598;AW292180;BC153866;CD013901;CH471080;DA096824;DA407151;NG_015827;NM_000742;U62431;Y16281 AAB40109;AAI53867;BAG59031;CAA76154;EAW63552;NP_000733;Q15822 Hs.57718 1298260;1797392;7189463 CHRNA2_2606;D8S131 OTTHUMP00000128276;OTTHUMP00000225234;OTTHUMP00000225235;OTTHUMP00000225236;acetylcholine receptor, nicotinic, alpha 2 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal);neuronal acetylcholine receptor subunit alpha-2 APPROVED protein-coding ENSG00000120903 1956 00332 118502;610353 REVIEWED 736847 CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 15 15 q14 30110018 30248541 + 32322686 32462384 + 1300376;1358509;1600992;1580863;6480464 9012828;15465084;15801858 19462340;19367581;19307444;19259974;19181484;19156168;19136953;19086053;19058789;19040571;19038445;18800618;18696274;18691158;18667281;18545269;18471073;18450646;18393235;18385739;18307030;18302933;18198266;18078695;18073210;18072279;18071042;18057084;17981562;17978319;17920082;17884806;17709503;17573436;17559419;8906617;10681545;8145738;12508119;10771023;16280133;16754836;12189247;17498763;19630919;19587288;17504249;17012261;16837119;16822928;16563701;16461803;16417613;16314871;16307758;15927954;15896732;15857954;15807899;15531077;15504725;15494367;15292665;15226316;15219869;15100704;15046869;14729237;14582144;14569275;12783266;12781587;12748066;12663058;12626641;12549904;12509811;12477932;12470124;12454998;12431773;12399955;12391028;12214130;12193385;12049804;12020960;11905992;11891309;11891308;11840567;11840317;11829490;11803513;11803512;11771745;11532536;11455129;11424985;11278378;11150893;10336173;10206240;10206225;9782083;9193799;9009220;8996215;8889549;8188270;7571003;17493709;17373692;17335853;17291692;17286584;17241116;17192651;17192639;17113175;17015027;17012698;21510634;22300029;22300033;22556416;22577141;22052086;22336089;22359659;20506139;20720594;19080531;20584212;20602615;15252450;18387948;19351547;19433665;19506073;19549780;19623583;19631623;19666073;19736351;19808646;19944766;20006992;20231857;20463630;20518839;20309583;20691427;20734064;20736995;20927308;21073885;21047781;20660165;19059502;19896235;21051662;20708605;21062106;21550667;20728875;21390272;20864676;22483691;21969082;21718690;21630219;22040696;22423106;21610071;21861625;22420046;22420048;16344560;21979958;22009746;22270376;22588665;22441542;21790533;21840925;22253823;22553201;22342972;23324234;23275563;23325242;22614008;23431157;23022323;22084248 1139 H3BM15;P36544 ABBA01038340;ABBA01038341;AC058803;AC068448;AC079969;AF029837;AF332758;AF385585;AJ586911;AK292069;AK294229;AMYH01006502;AMYH01006503;AY909581;BC037571;BI789267;BM451308;CK903361;DA583811;DQ786262;EF405802;EF405803;EF405804;EF405806;EF405807;EF405808;EF405809;EF405810;EF405811;EF405812;EF405813;EF405814;EF405815;EF405816;EF405817;EF405818;EF405819;EF405820;EF405821;L25827;N54079;NG_009216;NM_000746;NM_001190455;NR_046324;U40583;U62436;X70297;XM_003960575;XM_003960576;XM_003960577;XM_003960578;Y08420;Z23141 AAA83561;AAB40114;AAH37571;AAK19515;AAK68111;ABR09427;ABR09428;ABR09429;ABR09430;ABR09431;ABR09432;ABR09433;ABR09434;ABR09435;ABR09436;ABR09437;ABR09438;BAF84758;BAG57531;CAA49778;CAA69697;CAA80672;CAE52911;NP_000737;NP_001177384;P36544;XP_003960624;XP_003960625;XP_003960626;XP_003960627 Hs.511772;Hs.713151 1645403;1674139;1684648;1696584;1709212;1724223;1739479;1762109;1774054;2112114;2113848;2113858;2123911;2161475;2170635;2178849;5017979 CHRFAM7A_s9;CHRNA7;D15S1360;D15S610E;D15S937;RH11309;RH121251;RH26807;RH78395;SHGC-12902;SHGC-146010;SHGC-36068;SHGC-78782;SHGC-85789;STS-X70297;UniSTS:479961;WI-19149 CHRNA7-2;NACHRA7 OTTHUMP00000159615;a7 nicotinic acetylcholine receptor;acetylcholine receptor, nicotinic, alpha 7 (neuronal);alpha 7 neuronal nicotinic acetylcholine receptor;alpha-7 nicotinic cholinergic receptor subunit;cholinergic receptor, nicotinic, alpha polypeptide 7;neuronal acetylcholine receptor protein, alpha-7 chain;neuronal acetylcholine receptor subunit alpha-7 APPROVED protein-coding 1960 00339 118511 REVIEWED 10356 CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal) This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 20 20 q13.2-q13.3 61445109 61463192 - 61974662 61992748 - 704405;704387;1580863;1642301;6480464;7240710 11904236;16497176 15902904;15790597;15717291;15154117;15046869;12887446;12887442;12782394;12781587;12681012;12663058;12565129;12556914;12477932;12214130;12202488;12185808;12121305;11780052;11771745;11409698;11352901;11261808;10563623;9009220;8889548;8833159;7806245;7721089;7647781;7550350;8906617;16332175;17955458;14623738;12189247;19429020;19352218;19336370;19290018;19259974;19156168;19101612;19063970;19058950;19058789;19016604;18991851;18937294;18821565;18762859;18691652;18534558;18298895;18226955;18043764;18042647;17981562;17977823;17948872;17768273;17613539;17590520;17559419;17504247;17488453;17385675;17373692;17226798;16869227;16825297;16636791;16608406;16456787;16407231;16344560;16205844;16183856;16174636;16091357;16023355;15944128;2351675;1505988;1492743;22008229;22373960;21130611;20189461;20584212;20634891;20736995;19059502;16238698;19020039;19300482;19482438;19484724;19498063;19506906;19577488;19620239;19628475;19693267;19698703;19874574;20201926;20231857;20331911;20493238;19896235;20649589;8987816;20881005;20943775;20734064;19803686;21451042;21252231;22873564;21203548;21343288;21432576;21396349;21500914;21740768;21757735;21445957;21753767;21683344;21900206;21321393;21593077;23349463;22103306;21821135;22119468;22359659;22253823;20301348;22118295;22553201;22947540;22722381;23000369;22760121 1137 B4DK78;H0YBH1;P43681;Q4VAQ3;Q4VAQ5;Q59FV0 ABBA01021394;AK296430;AK314907;AL121827;AMYH01012077;AMYH01012078;AY816234;AY878243;AY878244;BC096290;BC096291;BC096292;BC096293;BM710937;CH471077;DA530118;DQ093071;L35901;NG_011931;NM_000744;NM_001256573;NR_046317;U62433;X87629;X89741;X89742;X89743;X89744;X89745;X89746;Y08421 AAA64743;AAB40111;AAH96290;AAH96291;AAH96292;AAH96293;AAV66461;AAW81038;AAW81039;AAY88737;BAG59090;CAA60959;CAA61893;CAA69698;EAW75269;EAW75270;NP_000735;NP_001243502;P43681 Hs.10734 1666466;1677993;1678487;1681259;1686859;1688704;1797394 CHRNA4_1625;D20S127E;RH12050;RH64135;RH70691;RH75305;RH78607 BFNC;EBN;EBN1;FLJ95812;NACHR;NACHRA4;NACRA4 OTTHUMP00000031784;acetylcholine receptor, nicotinic, alpha 4 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 4;neuronal acetylcholine receptor subunit alpha-4;neuronal nicotinic acetylcholine receptor alpha-4 subunit APPROVED protein-coding ENSG00000101204 1958 00333 118504;188890;600513 REVIEWED 733287 CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal) This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012] 4 4 p14 40032226 40051730 + 40337346 40357234 + 1580863;6480464 19156168;17706194;17559419;17373692;16314871;15815621;15531379;15489334;12860975;12697997;12477932;11752216;11076863;11021840;21370452;18420419;19259974;20733118;19059502;20734064;20229177;22280835;22125646;11329013;17567985;20953833;21841780;22774872 55584 Q9UGM1 ABBA01014243;ABBA01014244;AC118275;AF227732;AJ243342;AMYH01014126;AY123244;BC113549;BC113575;BG218331;BP870578;CH471069;NM_017581 AAF61920;AAI11596;AAI13550;AAI13576;AAM74523;AAY40986;ADR83026;CAB65091;EAW92963;NP_060051;Q9UGM1 Hs.272278 1335228;1667014;1670904;1767043;1792484;7186432 D4S405;G33900;PMC151834P1;SHGC-152685;SHGC-7571 HSA243342;MGC142109;MGC142135;NACHRA9 NACHR alpha 9;NACHR alpha-9;OTTHUMP00000125215;acetylcholine receptor alpha 9 subunit (nachr);acetylcholine receptor, neuronal nicotinic, alpha-9 subunit;cholinergic receptor, nicotinic, alpha polypeptide 9;neuronal acetylcholine receptor protein, alpha-9 subunit;neuronal acetylcholine receptor subunit alpha-9;nicotinic acetylcholine receptor subunit alpha 9;nicotinic acetylcholine receptor subunit alpha-9 APPROVED protein-coding ENSG00000174343 14079 16092 605116 REVIEWED 733511 CHRNA6 cholinergic receptor, nicotinic, alpha 6 (neuronal) This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010] 8 8 p11.21 42726920 42742776 - 42607763 42623929 - 1580863;6480464 19086053;8906617;19500157;19259974;19156168;18940582;18704094;18055561;17373692;17081983;15489334;12537063;12477932;12406580;12150770;8950106;18940593;19698703;20029407;20231857;20418888;12195439;17207965;17324557;18198416;19204725;19564872;20734064;20736995;20854418;20923852;20584212;19059502;21831805;21832048;21873428;21917987;22315221;23227187 8973 E9PP97;Q15825 AB079251;ABBA01021167;AC087533;AK298798;AK313521;AMYH01018688;BC014456;CH471080;DC307404;NM_001199279;NM_004198;U62435;Y16282 AAB40113;AAH14456;ADQ32811;BAC06855;BAG36301;BAG60933;CAA76155;EAW63207;NP_001186208;NP_004189;Q15825 Hs.103128 1670382;1677442;1788706;1797398;2138979 CHRNA6_1902;G17210;RH135820;RH71244;SHGC-5780 CHNRA6 OTTHUMP00000229188;OTTHUMP00000229189;acetylcholine receptor, nicotinic, alpha 6 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 6;neuronal acetylcholine receptor subunit alpha-6 APPROVED protein-coding ENSG00000147434 15963 06056 606888 REVIEWED 734445 CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010] 15 15 q24 76644961 76673515 + 78857862 78887611 + 1580863;6480464;7240710 9193799;18780872;18759969;18618000;18559515;18519524;18519132;18450646;18414406;18385739;18385738;18385676;18165968;18163978;17559419;17373692;17135278;15716100;15489334;12783266;12477932;11606319;10679230;9655874;1542648;18227835;9009220;19641473;19628476;19482438;19429911;19390575;19300482;19259974;19247474;19223495;19156168;19132693;19086053;19029397;19010884;19005185;18996504;18978134;18957677;18783506;8906617;2004777;1572664;1505988;22382757;22241830;22382680;22837378;21168125;19913121;20584212;20587604;20624154;20628086;20631687;20643934;20656943;20677014;20725741;20733116;20736995;20808433;16341674;19436041;19443489;19671882;19696770;19706762;19733931;19776245;19836008;19859904;19955392;20124469;20173748;20201926;20395203;20418889;20438829;20485328;20548021;20554942;20564069;20581870;19577767;20381163;19059502;20691427;20734064;20840187;20854418;20886544;21248747;20881005;20700147;20685379;22024278;22406075;22461431;21440309;21646606;21747048;22336398;22884254;21228559;21955800;23029550;21436384;21765098;21586512;21559498;21873428;21748402;21385908;22459873;22832964;21963094;23000965;23011884;21764527;21890473;21906983;21418140;21858091;23430818;22012472;21321393;21593077;22042234;21946350;22080838;22017462;22223462;22008662;23143843;23221128;22665477;22868939;23308091;23061658;22956269;23022100;23249876;22820273;21448929;9642271;22101982 1138 H0YK34;H0YM98;H7BYM0;P30532;Q6EWN4 ABBA01060588;AC027228;AF385586;AJ306481;AJ306485;AJ584705;AJ584706;AMYH01006835;BC033639;BC050469;BM839817;CH471136;M83712;NG_023328;NM_000745;U62434;Y08419 AAA58357;AAB40112;AAH33639;ABM84281;ABM87673;ABW03599;CAA69696;CAC34820;CAE48367;CAE48368;EAW99160;EAW99161;EAW99162;NP_000736;P30532 Hs.1614;Hs.719767 1674960;1797396;2163412;5015619;5015961;5022322;5024756;5037552 CHRNA5_1914;D11S2560;D11S3114;D15S1477;D8S2279;RH80030;SHGC-36097;STS-M83712 LNCR2 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5;OTTHUMP00000185019;acetylcholine receptor, nicotinic, alpha 5 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 5;neuronal acetylcholine receptor subunit alpha-5;neuronal nicotinic acetylcholine receptor, alpha5 subunit APPROVED protein-coding ENSG00000169684 1959 00334 118505;612052 REVIEWED 734106 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009] 17 17 p13.2 4741840 4747148 - 4801064 4806369 - 704404;1580863;6480464;7240710 15322984;8755487;8872460;7531341;19086053;19064877;18657869;17363247;17304221;17272341;16527851;16198106;16087917;15652413;15367858;14981744;14592868;14532324;12562900;12087176;11030414;10962020;10719961;10534268;10514102;10211467;9158150;8957026;8232384;7958418;7902325;7688301;7538206;1712080;19259974;19544078;19059502;20864527;20734064;21470676;21150643;21715663;21175599;22178625;20301347 1145 Q04844;Q8N731 AB070507;ABBA01054780;ABBA01054781;AC109333;AC233723;AF105999;AI041890;AMYH01008043;CH471108;NG_008029;NM_000080;X66403 AAD24503;AAI56078;AAI57044;BAB97270;CAA47030;EAW90394;EAW90395;EAW90396;NP_000071;Q04844 Hs.654535 1675505;2122387;2167048;5095183 CHRNE;RH76075;SHGC-11989;WI-19144 ACHRE;CMS1D;CMS1E;CMS2A;FCCMS;SCCMS AchR epsilon subunit;OTTHUMP00000216307;acetylcholine receptor subunit epsilon;acetylcholine receptor, nicotinic, epsilon (muscle);cholinergic receptor, nicotinic, epsilon polypeptide APPROVED protein-coding ENSG00000108556 1966 00008 100725;601462;608930;608931 REVIEWED 732613 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 15 15 q24 76674706 76700377 - 78885394 78913637 - 1599607;1599610;1580863;6480464;7240710 15469883;12542858 1689727;22461431;17373692;16091357;17344216;15716100;15681842;15494367;15489334;12912995;12663058;12477932;12214130;11771745;11606319;11118490;10771001;10336173;10095081;9921897;9804613;9624109;9387186;9009220;8889548;8878111;7850023;7490471;2336208;2004777;1989896;1725184;8906617;18227835;11450844;19641473;19628476;19628475;19506133;19429911;19300482;19259974;19247474;19156168;19132693;19029397;19010884;19005185;18996504;18957677;18780872;18759969;18647633;18618000;18519524;18414406;18385739;18385738;18385676;18163978;17504758;1572664;22241830;21168125;20554942;20564069;20584212;20587604;20631687;20643934;20656943;20712524;20725741;20808433;18978787;18978790;19654303;19671882;19696770;19706762;19733931;19834535;19836008;19859904;19955392;20007924;20043866;20068085;20173748;20201926;20234319;20393456;20395203;20418889;20418890;20485328;19059502;8987816;22382757;20418888;20426799;20734064;20736995;20840187;20886544;21081471;20685379;21646606;21248747;21312287;21747048;22336398;21559498;21486776;22280835;23029550;22024278;21436384;21536845;21623257;21690317;21765098;21748402;21858091;21511889;22837378;22042234;21593077;22017462;22223462;21385908;22459873;21228559;21946350;22080838;22356581;22722785;23061658;23056235;22441734;22956269;23255854;23143843;23022100;23251661;23284291;22274960;22101982;22701590 1136 H0YNF9;P32297 ABBA01060588;ABBA01060589;AC027228;AC067863;AF385584;AI833126;AJ007783;AJ007784;AJ007785;AJ007786;AJ007787;AJ584707;AJ584708;AJ584709;AK298195;AMYH01006835;BC000513;BC001642;BC002996;BC006114;BC098443;BM666615;BT006646;BT006897;CH471136;M37981;NG_016143;NM_000743;NM_001166694;NR_046313;U62432;X53559;Y08418 AAA59942;AAB40110;AAH00513;AAH01642;AAH02996;AAH06114;AAH98443;AAK68110;AAP35292;AAP35543;BAG60465;CAA07682;CAA37625;CAA69695;CAE48369;CAE48370;CAE48371;EAW99156;EAW99157;EAW99158;EAW99159;NP_000734;NP_001160166;P32297 Hs.89605 1674960;1683449;1716437;1795562;1797396;2163412;2220334 CHRNA3;CHRNA3_541;CHRNA5_1914;RH121399;RH98633;SHGC-36097;STS-M83712 LNCR2;MGC104879;NACHRA3;PAOD2 OTTHUMP00000185024;OTTHUMP00000185025;acetylcholine receptor, nicotinic, alpha 3 (neuronal);cholinergic receptor, nicotinic, alpha polypeptide 3;neuronal acetylcholine receptor subunit alpha-3;neuronal nicotinic acetylcholine receptor, alpha3 subunit APPROVED protein-coding ENSG00000080644 1957 07511 118503;612052 REVIEWED 733898 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008] 17 17 p13.1 7289130 7301656 + 7348406 7360932 + 704404;1580863;6480464;7240710 8651643;8872460;16874522;11104662;19307444;19279256;19259974;19086053;18179903;17373692;17015027;16280586;15489334;12477932;10662545;10562302;2740233;2221824;887246;1397297;20584212;16169070;20734064;20736995;22406075;20301347;23000965 1140 B7Z5H1;I3L1T7;I3L3Q9;I3L4N5;I3L535;P11230;Q8IZ46 ABBA01054866;ABBA01054867;ABBA01054868;AC113189;AK294880;AK298938;AK308106;AMYH01008082;BC011371;BC023553;CH471108;NG_008026;NM_000747;X14830 AAH11371;AAH23553;ABM85567;BAH11912;BAH12907;CAA32939;EAW90186;NP_000738;P11230 Hs.330386 1647967;1666308;1677983;1741913;1741915;1797528;2120022;2166029;2181755;5020242;5037552 AFM238WF2;D11S2612;D8S2279;FGF11_2203;G30483;GDB:186812;GDB:186817;IB1796;RH78385;STS-W57641;STS-X14830 ACHRB;CHRNB;CMS1D;CMS2A;FLJ57107;SCCMS OTTHUMP00000135278;acetylcholine receptor subunit beta;acetylcholine receptor, nicotinic, beta 1 (muscle);cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) APPROVED protein-coding ENSG00000170175 1961 01156 100710;601462;608931 REVIEWED 733218 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008] 1 1 q21.3 152806881 152818978 + 154540257 154552354 + 704404;737782;1580863;737811;6480464;7240710 11104662;10064590 8906617;17559419;15964197;12189247;19279256;19259974;19156168;19101612;19086053;19063970;19058950;18991851;18830724;18762859;18593715;18534914;18534558;18226955;18043764;17900292;17385675;17373692;17226798;17192785;16928859;16636791;16407231;16314871;16183856;16174636;16023355;15944128;15681842;15489334;15154117;15046869;15033200;15026168;12681012;12663058;12477932;12214130;12202488;12185808;11952766;11906688;11771745;11261808;11062464;11054772;10771020;10441742;9921897;9009220;2377478;1505988;1397297;20534741;20574532;20677014;20736995;16238698;18242781;19482438;19620239;19755656;19874574;20231857;20413850;19059502;20649589;20371741;8987816;20734064;20854418;20880607;20881005;20923852;20943775;20441771;21451042;21287502;21252231;21396349;21606948;21757735;21536845;22359659;20603624;23000369;20301348;22553201 1141 P17787;Q5SXY3 ABBA01049490;AF077186;AF174495;AJ001935;AJ001936;AJ001937;AJ001938;AJ001939;AK313470;AL592078;AMYH01001419;BC075040;BC075041;CH471121;NG_008027;NM_000748;R40506;U62437;X53179;Y08415 AAB40115;AAD45422;AAH75040;AAH75041;BAG36255;CAA05108;CAA37320;CAA69692;EAW53192;NP_000739;P17787 Hs.2306 1771242;1795244;2145004;2147446;2158928;2183223 CHRNB2_23;RH46993;RH70833;STS-R37134;STS-U62437;WI-19921 EFNL3;nAChRB2 OTTHUMP00000035374;acetylcholine receptor, nicotinic, beta 2 (neuronal);cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal);neuronal acetylcholine receptor subunit beta-2;neuronal nicotinic acetylcholine receptor beta 2 APPROVED protein-coding ENSG00000160716 1962 00335 118507;605375 REVIEWED 732764 CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal) 15 15 q24 76703691 76720642 - 78916636 78933587 - 1580863;6480464 15489334;8906617;11742001;11450844;1330682;19628476;19628475;19429911;19259974;19156168;19086053;19029397;18996504;18780872;18759969;18618000;18519524;18414406;18385739;18385738;18163978;17373692;16826524;16091357;15742216;12912995;12783266;12663058;12477932;12150770;11606319;11118490;10336173;9693793;9655874;9203638;9193799;9009220;8996215;7571003;2004777;1725184;1689727;1572664;1505988;22241830;22382680;8987816;20554942;20584212;20587604;20631687;20808433;19059502;11181995;19671882;19696770;19706762;19859904;20201926;20418889;20485328;22382757;20734064;20736995;20886544;20426799;20685379;21107856;21168125;21343288;21658281;21248747;21486776;21646606;22336398;21747048;22024278;21436384;21228559;21917987;22042234;22042774;22543065;22438940;22459873;23061658;22956269;23349463;23143843;22101982;23029550 1143 H0YM29;H3BU02;P30926 ABBA01060589;ABBA01060590;AC067863;AF306329;AF453877;AJ306454;AK310443;AMYH01006835;BC096080;BC096081;BC096082;BC096083;CH471136;NM_000750;NM_001256567;U48861;U62439;X68275;Y08416 AAA92123;AAB40117;AAH96080;AAH96081;AAH96082;AAH96083;AAL02062;AAL57840;CAA48336;CAA69693;CAC34819;EAW99153;EAW99154;NP_000741;NP_001243496;P30926 Hs.624178 1673538;2136296;2161813 RH47011;RH70650;STS-U48861 OTTHUMP00000185021;acetylcholine receptor, nicotinic, beta 4 (neuronal);cholinergic receptor, nicotinic, beta polypeptide 4;neuronal acetylcholine receptor subunit beta-4;neuronal nicotinic receptor beta 4 subunit APPROVED protein-coding ENSG00000117971 1964 00337 118509 VALIDATED 1347400 CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal) The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010] 8 8 p11.2 42671719 42711366 + 42552562 42592209 + 1580863;6480464 19500157;7690916;8906617;18704094;18055561;17559419;17373692;17158188;17135278;16314871;15489334;12912995;12783266;12477932;11118490;10336173;9624109;9193799;9009220;8088849;7571003;1505988;19086053;19482438;19259974;19156168;20584212;19760673;20231857;20418888;19059502;17207965;20923852;20734064;20736995;20840187;20854418;21831805;21606657;21191315;22524403;22315221 1142 Q05901 ABBA01021163;ABBA01021164;ABBA01021165;ABBA01021166;ABBA01021167;AC087533;AC090739;AC103843;AF140765;AMYH01018688;BC069681;BC069703;BC069788;CH471080;NM_000749;U62438;X67513;Y08417 AAB40116;AAD33063;AAH69681;AAH69703;AAH69788;ADQ31924;CAA47851;CAA69694;EAW63208;NP_000740;Q05901 Hs.654576 1734110;1797400;1854051 CHRNB3_2327;D8S1209;D8S1981 OTTHUMP00000229136;acetylcholine receptor, neuronal nicotinic, beta-3 subunit;acetylcholine receptor, nicotinic, beta 3 (neuronal);cholinergic receptor, nicotinic, beta polypeptide 3;neuronal acetylcholine receptor subunit beta-3 APPROVED protein-coding ENSG00000147432 1963 00336 118508 VALIDATED 732695 CHRNG cholinergic receptor, nicotinic, gamma (muscle) The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009] 2 2 q37.1 233112681 233119282 + 233404437 233411038 + 704404;1580863;6480464;7240710 3967651;8040310;19086053;18625075;18502212;16826531;16826520;16435141;15815621;14702039;12477932;7695910;7688301;2630182;1981051;20584212;18988640;19259974;19059502;20734064;22167768;23396134 1146 H7BYH0;P07510 ABBA01002018;AC092165;AK125362;AK309340;AMYH01011571;BC111802;CH471063;NG_012954;NM_005199;X01715;X01716;X01717;X01718;X01719;X01720;X01721;X04759 AAI11803;AAY24103;BAG54190;CAA25861;EAW71004;EAW71005;NP_005190;P07510 Hs.248101 1682231 RH80272 ACHRG;MGC133376 OTTHUMP00000203703;OTTHUMP00000203704;acetylcholine receptor subunit gamma;acetylcholine receptor, muscle, gamma subunit;acetylcholine receptor, nicotinic, gamma (muscle);cholinergic receptor, nicotinic, gamma polypeptide APPROVED protein-coding ENSG00000196811 1967 00009 100730;253290;265000 REVIEWED 733359 CHRND cholinergic receptor, nicotinic, delta (muscle) The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012] 2 2 q37.1 233099166 233108449 + 233390870 233401375 + 704404;1580863;6480464;7240710 8872460;18252226;19086053;19010793;18625075;18398509;18179903;15815621;15489334;14735155;12499478;12477932;11782989;11435464;9668219;8910344;8103404;7695910;2564429;2221824;20584212;19259974;20201926;19059502;8987816;20734064;20840187;15028279;20301347 1144 B4DKT6;B4E3W4;C9JJV8;F8WB46;F8WBS0;Q07001 ABBA01002018;AC092165;AK291526;AK296704;AK300109;AK304890;AK315297;AMYH01011571;BC093923;BC093925;CD013895;CH471063;NG_008028;NM_000751;NM_001256657;NR_046333;NR_046334;X55019 AAH93923;AAH93925;AAY24102;BAF84215;BAG37703;BAG59298;BAG61904;BAG65626;CAA38759;EAW71003;NP_000742;NP_001243586;Q07001 Hs.156289 1744253;2157698 D2S2727;GDB:439020 ACHRD;CMS2A;FCCMS;SCCMS OTTHUMP00000164360;acetylcholine receptor subunit delta;acetylcholine receptor, nicotinic, delta (muscle);cholinergic receptor, nicotinic, delta polypeptide APPROVED protein-coding 1965 01516 100720;253290;601462;608930 REVIEWED 1353236 CHST10 carbohydrate sulfotransferase 10 This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011] 2 2 2 q11.2 95212945 95238710 - 100374754 100400523 - 101008322 101034130 - 1580863;6480464;6907045 9478973;19470764;16344560;15489334;12477932;12080076;10464296;9110174;8619474;8419650;1433500;20950796;22990118;22020094;21828042;21988832;22801424 9486 B8ZZ48;C9J5X0;C9JCK7;C9JI33;C9JUE4;C9JWY0;F5H3J3;O43529 ABBA01073933;AC012493;AF003827;AF033827;AF070594;AK297267;AK313241;AMYH01010809;AU124707;BC010441;BU849869;CH471127;CS255950;DA522916;DA732392;HI968225;NG_028153;NM_004854 AAC04707;AAC28651;AAH10441;AAX93044;ABM81990;ABM85171;BAG36052;BAH12534;CAJ75915;CBY88424;EAX01841;EAX01842;EAX01843;EAX01844;NP_004845;O43529 Hs.516370;Hs.731724 1664708;1734960;1855864;2136434;2166344;2166346;2182981 A004V45;A005U12;D2S1711E;G20503;STS-W80636;WI-19927;WI-21792 HNK-1ST;HNK1ST;MGC17148 HNK-1 sulfotransferase;OTTHUMP00000161254;OTTHUMP00000203188;carbohydrate sulfotransferase 10;huHNK-1ST APPROVED protein-coding ENSG00000115526 19650 07332 606376 REVIEWED 1317743 CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011] 11 11 p11.2 45627003 45643748 - 45669239 45687206 - 1580863;6480464;6907045 9405439;10330415;19343046;18698629;17690104;16495484;16189514;15489334;15324304;12477932;11310842;10642612;10528213;10049591;9639683;9117134;8419650;1433500;21041608;16344560;21880669;22260995;21988832 8534 O43916 AB003791;ABBA01060761;AC087442;AF090137;AI793094;AK311168;AMYH01003528;AY339617;BC022567;BC028235;BI917296;CH471064;DA193787;DB493321;NG_029811;NM_003654;U65637 AAC28776;AAD19878;AAH22567;AAH28235;AAP88041;BAA24840;EAW68034;EAW68035;EAW68036;EAW68037;EAW68038;EAW68039;NP_003645;O43916 Hs.104576 1698494;2134543;2144898;5037552 D8S2279;RH102797;RH12401;RH12643 C6ST;GST-1;KS6ST;KSGal6ST;KSST GST-1;KSST;OTTHUMP00000233116;carbohydrate (chondroitin 6/keratan) sulfotransferase 1;carbohydrate sulfotransferase 1;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1;keratan sulfate Gal-6 sulfotransferase APPROVED protein-coding 1969 07051 603797 REVIEWED 1347829 CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011] 3 3 3 q21.3 124668006 124686803 + 127725866 127744824 + 126243131 126262134 + 1580863;6480464;6907045 12080076;12477932;10781601;20580388 166012 Q3SYA3;Q8NET6 ABBA01016388;ABBA01016389;AC024558;AMYH01013450;AY120869;BC039390;BC045257;BC047236;BC103895;BC103896;BC103897;CH471052;DR006930;NG_029855;NM_152889 AAH39390;AAH47236;AAI03896;AAI03897;AAI03898;AAM55481;EAW79359;NP_690849;Q8NET6 Hs.292375 1685465 RH99101 C4ST3;MGC119278;MGC119279;MGC119281 C4ST-3;OTTHUMP00000222583;carbohydrate sulfotransferase 13;chondroitin 4-O-sulfotransferase 3;chondroitin 4-sulfotransferase 3 APPROVED protein-coding ENSG00000180767 21755 13057 610124 REVIEWED 1348543 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010] 15 15 q15.1 38550505 38552646 + 40763160 40765357 + 737633;6480464;6907045;7240710 12477932 11470797;16303743;15489334;14702039;12975309;22581468;12847091;20533528;21309034;19661164;20004762;17207965;20842734;22797925 113189 H0YN65;Q8NCH0 AB066595;ABBA01038449;AC013356;AF282905;AF401222;AK074739;AMYH01006561;AMYH01006562;AY358446;BC009883;BC023653;BC049214;BC053633;CH471125;CR997569;NG_017074;NM_130468 AAH23653;AAH49214;AAH53633;AAK69530;AAK92532;AAQ88811;ADQ32628;BAB84097;BAC11172;EAW92419;NP_569735;Q8NCH0 Hs.442449 1675650 RH91091 ATCS;D4ST-1;D4ST1;HD4ST;HNK1ST OTTHUMP00000160446;carbohydrate sulfotransferase 14;dermatan 4 sulfotransferase 1 APPROVED protein-coding ENSG00000169105 24464 16780 601776;608429 REVIEWED 1317861 CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011] 7 7 7 p22 2412652 2443589 + 2409785 2440766 + 2443195 2474242 + 1580863;6480464;6907045 10781601;17353931;15489334;12975309;12847091;12690205;12477932;8125298;21833088;16344560;20580388;22505724 55501 C9J991;Q9NRB3 AACC02000053;ABBA01039373;AC004840;AF239822;AJ289131;AK223191;AK223211;AK313484;AMYH01016970;AY358574;BC002918;BC015954;BC095492;CH236953;CH471144;DA078292;DA704587;NG_029854;NM_001243794;NM_001243795;NM_018641 AAF81692;AAH02918;AAH95492;AAQ88937;ABM83895;ABM87216;BAD96911;BAD96931;BAG36268;CAB92133;EAL23955;EAW87243;EAW87244;EAW87245;NP_001230723;NP_001230724;NP_061111;Q9NRB3 Hs.744987 1697884;1770575;2132014;2218380 CHST12_4572;GDB:1317144;RH102470;WI-15817 C4S-2;C4ST-2;C4ST2 OTTHUMP00000025467;OTTHUMP00000201074;carbohydrate sulfotransferase 12;chondroitin 4-O-sulfotransferase 2;chondroitin 4-sulfotransferase 2;sulfotransferase Hlo APPROVED protein-coding ENSG00000136213 17423 13056 610129 REVIEWED 1318147 CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 q 103370614 103676013 + 104850692 105155792 + 1580863;6480464;6907045 11056388;19240061;15628971;15489334;15324304;15273723;12847091;12477932;10781601;10737800;10722746;14702039;16344560;19937589;20080650;20379614;8619474;9110174;17207965;20580388;21123170;21658254;21668797;23251661;22317973 50515 F8VRG6;F8VXK3;F8VXK7;Q9NPF2 AB042326;ABBA01053191;ABBA01053192;ABBA01053193;AC010191;AC073917;AC079316;AC126473;AF131762;AF239820;AJ269537;AJ289134;AK123676;AK290923;AK313217;AL833176;AMYH01004715;AMYH01004716;AMYH01004717;AMYH01004718;AY533204;AY533205;BC013315;BC030271;BC061524;CH471054;DA853534;NG_029810;NM_001173982;NM_018413 AAF81691;AAH13315;AAU87522;AAU87523;ADQ31678;BAA95485;BAF83612;CAB87380;CAB92134;EAW97748;EAW97749;EAW97750;NP_001167453;NP_060883;Q9NPF2 Hs.17569 1335704;1697008;1703586;1704908;1711926;1746359;1746809;1751585;1752347;1782654;1782716;1782718;2124220;2126228;2147421;2173167;2173570;5090999;5115268 D12S1075;D12S1647;G49574;G64600;G64840;RH101978;RH15762;RH70385;SHGC-105583;SHGC-106247;SHGC-149540;SHGC-155530;SHGC-155531;SHGC-17242;SHGC-64736;SHGC-79931;WI-15690;WI-16091;WI-18674 C4ST;C4ST-1;C4ST1;DKFZp667A035;FLJ41682;HSA269537 C4S-1;IgH/CHST11 fusion;OTTHUMP00000242139;OTTHUMP00000242140;carbohydrate sulfotransferase 11;chondroitin 4-O-sulfotransferase 1;chondroitin 4-sulfotransferase 1 APPROVED protein-coding ENSG00000171310 17422 13055 610128 REVIEWED 1315916 CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011] 3 3 q24 144321358 144324502 + 142838618 142842856 + 1580863;6480464;6907045 19343046;9722682;11042394;10049591;12855678;16897186;15632306;15489334;15220337;14702039;12501187;12477932;11726653;11310842;11056388;10528213;9712885;8419650;1433500;20677014;19898482;19571171;21041608 9435 Q9Y4C5 AB014679;AB014680;AB021124;AB021125;ABBA01059015;AC018450;AF083066;AK023268;AMYH01013551;BC017499;BC036930;BC042160;BC068604;BC105010;BC105012;BX387933;CA431595;CH471052;NG_029828;NM_004267 AAD20981;AAI05011;AAI05013;ACE86823;ACE87509;BAA34265;BAA34266;BAB16886;BAB16887;BAG51179;EAW78952;EAW78953;NP_004258;Q9Y4C5 Hs.529249;Hs.8786 1792770;2107935;2136007;2172884;2183241;5493111 1706;CHST2_8939;D3S4181;PMC16366P2;STS-AA035651;UniSTS:484341 C6ST;GST-2;GST2;Gn6ST-1;glcNAc6ST-1 N-acetylglucosamine 6-O-sulfotransferase 1;OTTHUMP00000215002;carbohydrate (chondroitin 6/keratan) sulfotransferase 2;carbohydrate sulfotransferase 2;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2;glcNAc6ST-1 APPROVED protein-coding 1970 04814 603798 REVIEWED 1602484 CHST15 carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 10 10 q26 125757174 125796231 - 125767182 125853123 - 6480464;6907045 11572857;16024005;15489334;15164054;12874280;12477932;11073942;11032940;10749872;9754571;9628581;3082866;16385451;8889548;21906983;23349846 51363 B4DH74;Q7LFX5 AB011170;AB025341;AB062423;ABBA01016370;ABBA01016371;ABBA01016372;AF026477;AK294961;AK299546;AL683842;AMYH01003153;BC027908;BC050540;BC075813;BM193389;BM977716;CH471066;CR749804;NG_032891;NM_001270764;NM_001270765;NM_014863;NM_015892 AAC71691;AAH27908;AAH50540;AAH75813;BAA25524;BAA83686;BAB72145;BAG58035;BAG61492;CAH18664;EAW49273;EAW49274;EAW49275;EAW49276;NP_001257693;NP_001257694;NP_055678;NP_056976;Q7LFX5 Hs.287537;Hs.745222 1673819;1703232;1770077;1772486;2109337;2116712;2132697;2139904;2177738;7185084 A002S44;D10S1370E;D10S244E;GALNAC4S-_6ST_9710;RH11172;RH78536;SGC32446;SHGC-31812;STS-M78348 BRAG;DKFZp781H1369;GALNAC4S-6ST;KIAA0598;MGC34346;RP11-47G11.1 B cell RAG associated protein (GALNAC4S-6ST);B-cell RAG-associated gene protein;N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase;OTTHUMP00000020689;carbohydrate sulfotransferase 15;hBRAG APPROVED protein-coding ENSG00000182022 18137 12203 608277 REVIEWED 1352183 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009] 10 10 q22.1 73394126 73443318 + 73724120 73773322 + 1600853;6480464;6907045;7240710 15215498 9883891;19343046;19320654;18697746;18513679;18398821;16344560;15489334;12477932;11696535;11056388;9714738;8419650;1433500;16385451;20830804;21963094;19322201;22246436;20301725;21882400;20301308 9469 Q7LGC8 AB012192;AB017915;ABBA01020367;AC022392;AC073370;AI041015;AK025251;AMYH01002818;AMYH01002819;BC033183;BC093690;BC104856;BG325090;CH471083;DA223095;DB289525;NG_012635;NM_004273 AAH93690;AAI04857;BAA32576;BAA36348;EAW54440;NP_004264;Q7LGC8 Hs.158304 1334637;2158800;7185034 D10S218;RH65787 C6ST;C6ST1;HSD C6ST-1;GST-0;OTTHUMP00000019779;carbohydrate sulfotransferase 3;chondroitin 6-O-sulfotransferase 1;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0 APPROVED protein-coding ENSG00000122863 1971 07052 143095;603799 REVIEWED 1603314 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011] 16 16 16 q22.3 59856732 59863372 - 74119929 74126569 - 75562428 75569068 - 6480464 10491328;12218059;12855678;19343046;17690104;14702039;12975309;12626414;12477932;12107080;11352640;11017086;8419650;1433500;17207965;19844255;20453000 23563 H3BMG8;Q9GZS9 ABBA01017057;AC009163;AC025287;AF176839;AF219991;AF246718;AMYH01007821;BC147002;BC147007;BX282540;CH471114;NG_029853;NM_024533 AAD56001;AAG26326;AAG28023;AAI47003;AAI47008;ADQ32550;EAW95635;NP_078809;Q9GZS9 Hs.745424 2110315;5022578;5022651;5037552 CHST5_9373;D11S2921;D1S1423;D8S2279 FLJ22167;I-GlcNAc-6-ST;I-GlcNAc6ST;MGC74625;glcNAc6ST-3;gn6st-3;hIGn6ST GST4-alpha;I-GlcNAc6ST;N-acetylglucosamine 6-O-sulfotransferase 3;OTTHUMP00000174950;carbohydrate sulfotransferase 5;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha;glcNAc6ST-3;gn6st-3;hIGn6ST;intestinal GlcNAc-6-sulfotransferase;intestinal N-acetylglucosamine-6-O-sulfotransferase APPROVED protein-coding ENSG00000135702 1973 07059 604817 REVIEWED 1321907 CHST4 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] 16 16 q22.2 70117560 70129917 + 71560023 71572493 + 1580863;6480464;6907045 10330415;12855678;19343046;16386360;16303743;15489334;15220337;14702039;12477932;12218059;12107080;11726653;11439191;11310842;11181564;8419650;1433500;15752429;16344560;17049924;19156517;21988832 10164 Q8NCG5 ABBA01016777;ABBA01016778;AC010547;AF131235;AF149783;AF280088;AK026635;AK074746;AL709927;AMYH01007788;BC035282;CH471166;DA045171;DA496702;NG_029801;NM_001166395;NM_005769 AAD33015;AAG48246;AAH35282;AAK48417;ABM83036;ABM86230;BAC11177;EAW59235;NP_001159867;NP_005760;Q8NCG5 Hs.251383 1795564 CHST4_9 GST3;GlcNAc6ST2;HECGLCNAC6ST;LSST GST-3;HEC-GlcNAc6ST;L-selectin ligand sulfotransferase;N-acetylglucosamine 6-O-sulfotransferase 2;OTTHUMP00000174926;carbohydrate sulfotransferase 4;galactose/N-acetylglucosamine/N-acetylgalactosamine 6-O-sulfotransferase 3;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3;glcNAc6ST-2;gn6st-2;high endothelial cells N-acetylglucosamine 6-O-sulfotransferase APPROVED protein-coding ENSG00000140835 1972 07477 REVIEWED 1342606 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010] 16 16 q22 74064523 74086427 - 75507022 75528926 - 1580863;6480464;6907045;7240710 22261655;11278593;11352640;11181564;19365571;19223992;19204788;18849568;18500531;17962390;17896316;17846354;17093400;16568029;16207214;15953452;15652851;15489334;15220337;15013869;14984470;14735064;14609920;12883341;12882775;12882769;12824236;12477932;12218059;11818380;11139648;11087716;11017086;10913333;8644739;8419650;1433500;21242781;19844255;20539220;21887843 4166 Q9GZX3 ABBA01058135;AC009163;AF219991;AF280086;AMYH01007821;BC036640;BC041645;BC074834;BC074883;CH471114;NG_016442;NM_021615 AAG26327;AAG48244;AAH74834;AAH74883;EAW95640;EAW95641;NP_067628;Q9GZX3 Hs.655622 1760901;2110317;5014019;5015861;5015869;5016596;5020414;5020946;5022425;5022578;5024413;5024761;5037552;7185938 CHST6_8463;D10S16;D1S1423;D22S296;D5S2354;D8S2279;GDB:313261;GDB:631802;L17688;L17877;L17971;RH36905;SHGC-144645 MCDC1 C-GlcNAc6ST;GST4-beta;N-acetylglucosamine 6-O-sulfotransferase 5;OTTHUMP00000174952;carbohydrate sulfotransferase 6;corneal N-acetylglucosamine 6-sulfotransferase;corneal N-acetylglucosamine-6-O-sulfotransferase;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta;glcNAc6ST-5;gn6st-5;hCGn6ST APPROVED protein-coding 6938 05597 217800;605294 REVIEWED 1319067 CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 19 19 19 q13.1 30806474 30958041 + 38867274 38956254 + 34112861 34264414 + 1580863;6480464 10988300;11001942;11445554;19079260;16079414;15632154;15489334;12477932;8419650;1433500;22289416;20816195;21107309;20379614;23377640 64377 K7ENM3;Q9H2A9 AB047801;ABBA01004313;ABBA01004314;ABBA01004315;ABBA01004316;AC005615;AC007205;AC008994;AC010510;AC011519;AF300612;AF305781;AMYH01009705;AMYH01009706;BC011380;BC014250;BC018723;BI917117;BX354555;DB500322;NG_029857;NM_001127895;NM_001127896;NM_022467 AAG39444;AAH11380;AAH14250;AAH18723;AAL09373;ABM82364;ABM85540;BAB19806;NP_001121367;NP_001121368;NP_071912;Q9H2A9 Hs.165724 1338189;1719375;1758849;1783212 D19S213;RH123415;SHGC-151083;SHGC-152049 GALNAC4ST1;GalNAc4ST GALNAC-4-ST1;GalNAc-4-O-sulfotransferase 1;N-acetylgalactosamine-4-O-sulfotransferase 1;carbohydrate sulfotransferase 8;galNAc4ST-1 APPROVED protein-coding ENSG00000124302 15993 07632 610190 REVIEWED 2303675 CHTF8P1 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) pseudogene 1 X X X p11.3 48629369 48632104 + 44377420 44380356 + 44492576 44495311 + 677883 AL136137;AMYH01022241;NG_005539 1653462;1737595;2148497;2163923;5092832 A006H34;D16S2678;G32357;SHGC-60590;SHGC-60824 CHTF8P;CTF8P APPROVED pseudo 35443 INFERRED 1603860 CHSY3 chondroitin sulfate synthase 3 CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008] 5 5 5 q23.3 125370892 125652732 + 129268422 129550226 + 129240523 129522327 + 6480464;6907045 17253960;17081983;12907687;12477932;21468578 337876 Q3MTV6;Q70JA7 AB086062;AB175496;ABBA01068845;ABBA01068846;ABBA01068847;ABBA01068848;AC004219;AC005373;AC008426;AC011360;AJ504664;AJ578034;AJ632296;AJ862728;AMYH01015607;AMYH01015608;AY726604;BC137325;CH471062;NM_175856 AAI37326;BAC98832;BAF47165;CAD43233;CAE17326;CAG17593;CAH89316;EAW62379;NP_787052;Q70JA7 Hs.213137 1664839;1681845;1690950;1700246;1704550;1740385;1751687;1753017;2143422;2149277;2178191;5022735 CSS3;D5S2208E;D5S2534;D5S2844;G16898;L29979;RH103740;RH94280;RH98414;SHGC-105699;SHGC-78110;SHGC-83081 CHSY2;CSS3 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3;N-acetylgalactosaminyltransferase 3;OTTHUMP00000223083;carbohydrate synthase 2;chSy-2;chondroitin glucuronyltransferase 3;chondroitin sulfate synthase 3;chondroitin synthase 2;chondroitin synthase-2;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II APPROVED protein-coding ENSG00000198108 24293 16766 609963 VALIDATED 1344494 CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin. [provided by RefSeq, Aug 2013] X X X p11.23 50625034 50649680 + 46318136 46342782 + 46433192 46457838 + 6480464;6907045 10913333;10781596;16335952;15772651;15489334;12477932;11944989;10956661;8419650;1433500;15342556;16344560;21890473 56548 Q9NS84 AB037187;AB040711;ABBA01052227;ABBA01052228;ABBA01052229;ABBA01052230;ABBA01052231;AL022165;AMYH01022250;BC023971;BC045537;BP250418;BQ940898;CH471164;DA155923;DA277492;NG_029799;NM_019886 AAH45537;ACT64520;ACT64521;BAB03217;BAB13770;EAW59267;EAW59268;NP_063939;Q9NS84 Hs.129955 1700476 RH103859 C6ST-2;GST-5 GST-5;N-acetylglucosamine 6-O-sulfotransferase 4;OTTHUMP00000023185;carbohydrate sulfotransferase 7;chondroitin 6-sulfotransferase 2;chondroitin 6-sulfotransferase-2;galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5;glcNAc6ST-4;gn6st-4 APPROVED protein-coding ENSG00000147119 13817 02302 300375 REVIEWED 1323606 CHSY1 chondroitin sulfate synthase 1 This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011] 15 15 15 q26.3 78129035 78204977 - 99533455 99609649 - 101715928 101792137 - 1580863;6480464;6907045 16303743;15489334;12975309;12907687;12716890;12477932;11514575;10231032;21468578;21129727;21129728;19322201;23291589;23322567 22856 Q86X52 AB023207;AB071402;ABBA01020525;ABBA01020526;ABBA01020527;AC019254;AC023024;AK075096;AK296943;AL137409;AMYH01006975;AY358529;BC046247;BQ007796;CH471101;NG_031908;NM_014918 AAH46247;AAQ88893;BAA76834;BAB64936;BAG59492;EAX02292;NP_055733;Q86X52 Hs.110488 1679117;1716937;1764321;2159612 D11S2252E;RH121848;RH189;SHGC-147931 CHSY;CSS1;ChSy-1;DKFZp434M032;FLJ58581;KIAA0990;TPBS N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1;N-acetylgalactosaminyltransferase 1;N-acetylgalactosaminyltransferase II;OTTHUMP00000194839;carbohydrate synthase 1;chondroitin glucuronyltransferase 1;chondroitin glucuronyltransferase II;chondroitin sulfate synthase 1;chondroitin synthase 1;glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1 APPROVED protein-coding ENSG00000131873 17198 10493 605282;608183 REVIEWED 1316417 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011] 18 18 18 q11.2 21305768 21575711 - 22749612 23019279 - 24495595 24765302 - 6480464 11139592;11445554;15489334;14702039;12975309;12477932;8419650;1433500;21156230;23259602 83539 Q7L1S5 ABBA01022565;ABBA01022566;ABBA01022567;ABBA01022568;AC010854;AC023575;AC116017;AF239821;AF332472;AF332473;AJ707539;AK093349;AK124319;AMYH01008906;AY358488;BC025764;BI710997;BM919514;BX119554;CH471088;DB444451;NG_029856;NM_001256316;NM_031422 AAH25764;AAK01862;AAK30369;AAK30370;AAQ88852;BAC04141;EAX01232;EAX01233;EAX01234;NP_001243245;NP_113610;Q7L1S5 Hs.44584;Hs.706552 1649427;1681090;1706356;1706660;1730455;1744373;1760689;2114280;2135543;2136170;5022588;5491721 D4S295;D4S466;D5S1597E;G31028;GDB:452617;L00832;RH125773;RH92179;SHGC-144226;SHGC-80745;SHGC-82815;STS-N34417 FLJ42328;GALNAC4ST-2 GALNAC-4-ST2;GalNAc-4-sulfotransferase 2;N-acetylgalactosamine 4-O-sulfotransferase 2;N-acetylgalactosamine-4-O-sulfotransferase 2;carbohydrate sulfotransferase 9;galNAc-4-O-sulfotransferase 2 APPROVED protein-coding ENSG00000154080 19898 610191 REVIEWED 1321395 CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) CHTF18, CHTF8 (MIM 613202), and DCC1 (DSCC1; MIM 613203) are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009] 16 16 16 p13.3 1038508 1047960 + 778623 788075 + 838622 848074 + 1580863;6480464 18499658;17545166;15302935;14702039;12930902;12766176;21252943;12477932;12171929;11486023;11157797;18245774;20826785;22939629;17314511;21139048;21906983;22505724 63922 E7EXA6;F8WCC1;H0Y7D3;H3BN43;H3BT35;Q8WVB6 ABBA01030343;ABBA01030344;AE006465;AI650845;AK024476;AK128869;AK293846;AK309804;AL031033;AMYH01007008;AMYH01007009;BC006278;BC006437;BC018184;CH471112;DC410609;NM_022092 AAH06278;AAH06437;AAH18184;AAK61256;BAB15766;BAG57244;EAW85704;EAW85705;EAW85706;EAW85707;EAW85708;EAW85709;EAW85710;EAW85711;NP_071375;Q8WVB6 Hs.153850 C16orf41;C321D2.2;C321D2.3;C321D2.4;CHL12;Ctf18;RUVBL C321D2.3 (novel protein);C321D2.4 (novel protein);OTTHUMP00000045506;OTTHUMP00000208409;chromosome transmission fidelity protein 18 homolog;hCTF18;homolog of yeast CHL12;some homology with holliday junction DNA helicase RUVB like APPROVED protein-coding ENSG00000127586 18435 13059 613201 VALIDATED 5507996 CHURC1-FNTB CHURC1-FNTB readthrough This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 14 q23 65381079 65529373 + 19862010;20967262;21890473;21906983;23000965;23222517 100529261 B3KSC2;B4DL54;B4E1A0;H0YHI0;H0YIM3;H0YIM9;H0YJ25 ABBA01018373;ABBA01018374;ABBA01018375;ABBA01018376;ABBA01018377;ABBA01018378;AK296850;AK303739;AL135745;AL139022;AMYH01005801;AMYH01005802;AMYH01005803;NM_001202558;NM_001202559 BAG59416;BAG64712;NP_001189487;NP_001189488 Hs.325531 2126618;2154883;2176004 A003A45;WI-18777;WI-9215 FLJ58825;FLJ59570 CHURC1-FNTB protein;OTTHUMP00000243297 protein-coding 42960 VALIDATED 2301776 CIAPIN1P cytokine induced apoptosis inhibitor 1 pseudogene 18 18 18 q11.2 20989924 20991932 + 22433272 22435311 + 24179283 24181291 + 728599 ABBA01022571;AC090206;AMYH01008903;NG_008808 1336261;1655342;2118066;2191743 A007G23;D18S819;IB525;MARC_6359-6360:997299586:3 HsT2384 pseudo 31087 INFERRED 1606282 CHTF8 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jan 2010] 16 16 16 q22.1 53661235 53675816 - 67709414 67723985 - 69151912 69166493 - 6480464 15342556;16344560;15146197;12930902;12766176;12477976;12477932;11389843;16189514;16341674;20826785;14702039;15489334;15616553;17545166;8889548;16712791;16055720;21139048 54921 E5RGL1;E5RGY5;E5RHL4;H0YAV5;H3BPP1;H3BQB7;J3KSJ7;P0CG12;P0CG13 ABBA01025514;AC009027;AF525164;AK000407;AL833902;AMYH01007764;AMYH01007765;BC018700;BC069059;BM820172;BP195395;BP222147;BU631276;BU739855;CB135653;CB147424;CH471092;CN388626;DA076128;DA378951;DB188088;NM_001039690;NM_001040146;NR_033227 AAH18700;AAQ08897;BAA91144;CAD38758;EAW83250;NP_001034779;NP_001035236;P0CG12;P0CG13 Hs.85962 1653462;1737595;1846922;2148497;2163923;5092832 A006H34;D16S2678;D16S3301;G32357;SHGC-60590;SHGC-60824 CTF8;DERPC;FLJ20400 OTTHUMP00000225367;OTTHUMP00000225506;chromosome transmission fidelity factor 8 homolog;chromosome transmission fidelity protein 8 homolog;decreased expression in renal and prostate cancer protein;hCTF8 APPROVED protein-coding ENSG00000168802 24353 16797 613202 REVIEWED 1315401 CHUK conserved helix-loop-helix ubiquitous kinase This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008] 10 10 q24-q25 101938114 101979334 - 101948124 101989344 - 1580863;2292150;2292172;2291908;2298657;5133702;5133703;5133701;6480464;6484113;6907045;7240710 12655295;18267068;18317887;17377533;20472709;21496385;18643924 20378831;9252186;9520446;10747982;9346484;9744859;10485710;10723127;19258923;19223558;19104039;19088076;19085841;19074436;19050262;18990758;18952893;18940312;18829575;18818691;18704119;18688039;18633439;18604171;18600435;18593939;18571841;18560356;18550535;18512729;18490760;18443205;18224289;18163512;18071880;17962807;17897950;17823124;17785555;17703412;17684021;17616684;17597077;17537731;17507655;17452475;17452332;17439942;17434128;17363973;17363905;17319651;17317777;17272824;17237443;17237434;17237423;17145747;17138672;17102620;17079494;16902410;16733051;16407216;16405428;16280329;16258173;16177806;16034126;15808510;15677466;15489227;15469934;15456791;15226448;15164054;15153339;15140882;15071597;14963024;14743216;14585846;12789342;12771929;12589056;12547194;12477932;12411322;12133833;12048203;11971985;11864612;11815618;11805286;11594795;11527961;11359906;11113112;11002417;10968790;10962033;10779355;10755617;10713178;10521409;10469655;10195894;10187861;10072079;9891086;9819420;9813230;22660635;16840786;17630505;19875381;21575199;23041317;23115237;23322406;17620599;22384180;22605335;9751060;9751059;9632806;9409737;9346241;9244310;8777433;8246997;7558004;17182689;11959143;19150425;11585904;11278268;10887201;10094049;11877453;11057907;9346485;12210728;10485711;11853669;10848580;12093792;12351658;11096118;14499622;14585990;14585847;15856023;15782119;15845455;15802604;15494311;15084260;20501937;19913121;20628086;20634891;20684021;20711193;10648614;10848576;11042193;11095741;11136824;11809792;11976329;12070292;12459277;12637324;12707358;12842894;15125834;15389589;15601829;15761153;16046471;16286467;16319058;16365431;16385451;17047224;17289033;17540171;17891179;17914462;18029348;18180283;18207244;18579519;18782346;19270264;19421711;19453261;19488402;19573080;19728335;19773279;19786094;19838210;19851296;19854138;19909783;19948975;20043910;20051109;20056178;20164171;20198315;20331378;20379146;20448286;20503287;20508983;9689078;20356841;20149620;20671123;16303288;16424386;20098747;20817876;15800029;20568250;21048031;15276183;16382138;20351780;21056038;12482991;20961246;20855622;12054687;18362886;20940109;17643371;21248029;21081648;21170261;22776252;21451574;10022904;20005846;9742107;21191633;18626576;17939994;18003900;18949366;23563314;23636414;23708292;23732909;23776175;16356855;16893890;18268325;22863883;22939629;22990857;21571356;10066434;19656241;20026656;21795344;21784860;16051665;18079694;19815509;20932476;21474709;21887257;21903422;15836773;22196886;22474019;15383283;21139048;21703539;21906983;22156202;11485410;12244103;15218148;15590691;16497931;17563756;17977820;20028970;20145131;20200282;20348096;22547678;9914500;21862596;17568778;18266467;20434986;21988832;23035900;18501560;21131783;22891964;22262057;10980203;11080499;11830587;12504025;12709429;14597638;15084608;15184390;15208311;16126728;16354686;17244613;17379600;17384642;17693255;19287455;20133937;21482671;21724995;9721103;10733566;12138192;12190313;12612076;16393995;16611882;17053167;17728323;20368414;20614026;22149351;22848609;23032264;12486103;23027537;12943667;15670770;15749833;16583354;17000764;18074035;18625728;18760861;20100315;20449947;22407921;22480519;22505724;23007157;22740410 1147 O15111;Q59GT1 AB209028;ABBA01063229;AF009225;AF012890;AF080157;AL133012;AL138921;AL521750;AMYH01002997;AY652653;BC034796;BC092514;BM800404;CH471066;NG_028023;NM_001278;U22512 AAC50713;AAC51662;AAC51671;AAD08996;AAH92514;AAT49098;BAD92265;EAW49845;NP_001269;O15111 Hs.198998 1668087;1695364;1704102;1797402;5015881;5017170;5022651 CHUK_1668;D11S2921;GDB:335751;L29953;RH15687;SHGC-68297;SHGC-83371 IKBKA;IKK-alpha;IKK1;IKKA;NFKBIKA;TCF16 I-kappa-B kinase 1;I-kappa-B kinase alpha;I-kappa-B kinase-alpha;IKK-a kinase;IkB kinase alpha subunit;Nuclear factor NFkappaB inhibitor kinase alpha;OTTHUMP00000020273;TCF-16;conserved helix-loop ubiquitous kinase;ikappaB kinase;inhibitor of nuclear factor kappa-B kinase subunit alpha;nuclear factor NF-kappa-B inhibitor kinase alpha;transcription factor 16 APPROVED protein-coding ENSG00000213341 1974 02811 600664;613630 REVIEWED 1312958 CHURC1 churchill domain containing 1 14 14 14 q23.3 45435725 45456498 + 64450893 64471666 + 65381079 65402086 + 1580863;6480464 17610897;15489334;14702039;14651851;12477932;15342556;20211142;21832049;21360829 91612 H0YHA3;H0YHB4;H0YID9;Q8WUH1 ABBA01018373;AF060510;AK057626;AK296141;AK315905;AL135745;AL139022;AMYH01005801;AV734503;BC010517;BC020550;BM453839;BP305870;CH471061;NM_001204063;NM_001204064;NM_145165 AAG43128;AAH20550;BAG51943;BAH12268;BAH14276;EAW80883;EAW80884;EAW80885;EAW80886;EAW80887;NP_001190992;NP_001190993;NP_660148;Q8WUH1 Hs.731537 1647706;1665779;1724801;1736454;1772969;1772971;1853059;2154595;2166320;2167449;5092826;5118444 A002U27;A006H20;Cda1ka10;D11S3316;D14S712E;G32354;RH123549;RH44676;RH68912;SGC33171;SHGC-33304;WI-11285 C14orf52;FLJ33064;FLJ51978;FLJ78804;My015;chch OTTHUMP00000243290;OTTHUMP00000243291;OTTHUMP00000243293;OTTHUMP00000243294;protein Churchill protein-coding ENSG00000258289 20099 12262 608577 VALIDATED 1607051 CHTOP chromatin target of PRMT1 This gene encodes a small nuclear protein that is characterized by a arginine and glycine rich region. The encoded protein may be involved in cell cycle progression. This protein interacts with protein arginine methyltransferases and plays a role in the activation of estradiol-dependent transcription. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 1 q21.3 126677559 126689013 + 151873149 151884603 + 153606458 153618782 + 6480464 14667819;19254951;17081983;16710414;15498874;15489334;14702039;12477932;18029348;19858291;20688955;21832049;15342556;16196087;21139048;21890473;21906983;20360068;17361185;19322201;21628590;21963094;23000965;23084401;23299939 26097 Q5T7Y7;Q6PB28 ABBA01049441;AF261137;AF318362;AI929184;AK095230;AK097870;AK308713;AK309844;AL050260;AL162258;AL512704;AMYH01001405;BC002733;BC059949;BC070027;BC108721;BC120961;BC120962;BP375397;CH471121;DC387712;NG_030030;NM_001206612;NM_001244664;NM_015607 AAG44673;AAH02733;AAH59949;AAH70027;AAI08722;AAI20962;AAI20963;AAL55869;CAB43362;CAC21650;EAW53290;EAW53291;EAW53292;EAW53293;EAW53294;EAW53295;NP_001193541;NP_001231593;NP_056422;Q9Y3Y2 Hs.728799 1655151;1655917;1659492;1689606;2152159;5022450 D10S275;RH35847;RH78045;SHGC-2950;STS-N47007;WI-21724 C1orf77;DKFZp547E1010;FL-SRAG;FLJ40551;FOP;MGC131924;MGC86949;RP1-178F15.2;SRAG;SRAG-3;SRAG-5;pp7704 Friend of PRMT1 protein;OTTHUMP00000035121;OTTHUMP00000035122;OTTHUMP00000035123;chromatin target of PRMT1 protein;small arginine- and glycine-rich protein;small protein rich in arginine and glycine APPROVED protein-coding ENSG00000160679 24511 13163 614206 REVIEWED 1318655 CIB2 calcium and integrin binding family member 2 The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that the encoded protein may be a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 15 15 15 q24 55333003 55359888 - 76184046 76210933 - 78396991 78423878 - 737633;1580863;6480464;7240710 12477932 9931475;15489334;10764802;9630066;23023331;15711797;15146197;22779914 10518 H0YKC8;H0YKX8;H0YLL7;H0YLX3;H0YM71;H0YML3;H0YND4;O75838;Q05BT6 AA731290;AB012955;ABBA01060579;AC090260;AK293167;AMYH01006831;BC020443;BC033108;BC047381;BC057292;BE042882;BE907622;BI523557;BQ681471;BT019962;CH471136;CN371150;NG_033006;NM_001271888;NM_001271889;NM_006383 AAH33108;AAH47381;AAV38765;ADQ32461;BAA33584;BAG56711;EAW99183;EAW99184;EAW99185;EAW99186;NP_001258817;NP_001258818;NP_006374;O75838 Hs.129867 1651495;1725637;2138452 G62031;STS-D60668;WI-17359 DFNB48;KIP2;USH1J 2810434I23Rik;DNA-dependent protein kinase catalytic subunit-interacting protein 2;KIP 2;OTTHUMP00000184905;Usher syndrome 1J (autosomal recessive);calcium and integrin-binding family member 2;kinase-interacting protein 2 APPROVED protein-coding ENSG00000136425 24579 05713 605564;609439;614869 REVIEWED 2881602 CICP1 capicua transcriptional repressor pseudogene 1 Y Y q11.223 25944864 25948357 + 27535476 27538969 + 12815422;9847074 360017 AC006328;NG_004755 2188783 G66477 APPROVED pseudo 23936 VALIDATED 3077585 CICP10 capicua transcriptional repressor pseudogene 10 2 243062028 243062293 - 100462787 AC145627;AMYH01011642;NG_021554 APPROVED pseudo 37901 INFERRED 2801954 CICP11 capicua transcriptional repressor pseudogene 11 7 p11.2 55804472 55808193 + 100288904 AC091812;AMYH01017273;NG_022989 APPROVED pseudo 37903 INFERRED 3207429 CICP12 capicua transcriptional repressor pseudogene 12 7 7 66918756 66919598 + 55865727 55866569 + 100420224 ABBA01061828;AC092647;AMYH01017274;NG_022557 APPROVED pseudo 37905 INFERRED 732228 CIB1 calcium and integrin binding 1 (calmyrin) This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 15 15 q25.3-q26 88574481 88578168 - 90773477 90777279 - 1580863;6480464 15475008;15231747;10366599;9030514;9372844;12011095;19388079;18989529;18627437;17516631;16825200;16723353;16418530;16061695;15933764;15885068;15685448;15574431;15489334;15203218;15190070;14992593;12881299;12714504;12651910;12477932;12023286;11997098;11856312;11756406;11039900;10826701;10822252;10523297;9852683;21215777;19913121;20628086;16582881;19854831;20473878;19923078;20951827;21748785;21388953;15604093;21857112;20959453;21890473;21906983;21963094;21988832;22547769;22779914;22964641;23503467;19805025;22505724 10519 H6WJF3;Q99828 AA769426;AB021866;AB451276;AB451406;ABBA01053049;AC091167;AMYH01006921;BC000846;BG231771;BG759961;BI520476;CD622547;CH471101;CR456955;HY070030;JQ246073;NM_001277764;NM_006384;NR_102427;NR_102428;U82226;U83236;U85611 AAB39758;AAB53387;AAC51106;AAH00846;ABM82122;ABM85305;AEZ06077;BAA36281;BAG70090;BAG70220;CAG33236;EAX02087;EAX02088;EAX02089;EAX02090;NP_001264693;NP_006375;Q99828 Hs.715556 5017487 CIB1 CIB;CIBP;KIP;KIP1;PRKDCIP;SIP2-28 CIBP;DNA-PK interaction protein;DNA-PKcs-interacting protein;DNA-dependent protein kinase interacting protein;OTTHUMP00000194684;SNK-interacting protein 2-28;Snk interacting protein 2-28;calcium and integrin binding protein;calcium and integrin binding protein 1;calcium and integrin binding, protein kinase interacting protein;calcium and integrin-binding protein 1;calcium- and integrin-binding protein;calmyrin;kinase-interacting protein APPROVED protein-coding 16920 03800 602293 REVIEWED 1346049 CIAPIN1 cytokine induced apoptosis inhibitor 1 CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008] 16 16 q21 56019587 56038870 - 57462086 57481369 - 6480464 14970183;19081179;18625724;18389626;18299278;18293492;18203020;18059532;17935775;16957168;16410721;16381901;15489336;15489334;12477932;11230166;11076863;10493829;16189514;20815902;19194512;21700214;22863883;22939629;20411424;18029348;21729524;21900206;22677939;21139048;21890473;21906983;23596212;23151078;20802492;21963094;22713669;23000965 57019 H3BPG7;H3BQ23;H3BT65;H3BTT4;H3BTZ8;H3BUG4;H3BV90;Q6FI81 ABBA01025272;AC004382;AC009052;AF116609;AF248964;AK074263;AK292281;AK295024;AL136613;AMYH01007701;BC002568;BC024196;BC067303;BC071740;CH471092;CR533545;NM_020313 AAC24311;AAC24312;AAF71034;AAG44562;AAH02568;AAH24196;AAH67303;AAH71740;ACE86905;ACE87592;BAF84970;BAG58080;CAB66548;CAG38576;CAL38726;EAW82922;EAW82923;EAW82924;NP_064709;Q6FI81 Hs.4900 1655342;1854998;2118066;5124102 A007G23;IB525;RH11736;SHGC-61194 2810413N20Rik;Anamorsin;DRE2;PRO0915 OTTHUMP00000164661;anamorsin;cytokine-induced apoptosis inhibitor 1;fe-S cluster assembly protein DRE2 homolog;predicted protein of HQ0915 APPROVED protein-coding ENSG00000005194 28050 12338 608943 VALIDATED 1354495 CIAO1 cytosolic iron-sulfur protein assembly 1 2 2 2 q11.2 91373072 91381105 + 96295611 96303644 + 96931884 96939917 + 1580863;6480464 17353931;17937914;9556563;17041588;16189514;15489334;14702039;12477932;10493829;8125298;16169070;16751776;21832049;22939629;22379092;21139048;21890473;22190034;22505724 9391 O76071 ABBA01036593;AC004020;AC021188;AF086118;AI094333;AK056423;AK092687;AK124703;AK223257;AK299503;AK315568;AMYH01010722;BC001395;BC032812;BE220199;BG108391;BI460314;CH471207;CR456802;EF011618;NM_004804;U63810 AAC23493;AAC24948;AAH01395;AAH32812;ABK41108;ABW03511;ABW03824;BAD96977;BAG37943;BAG61458;CAG33083;EAW71374;EAW71375;NP_004795;O76071 Hs.12109 1665556;1676192;2138612;2189377;5015961;5020740;5022450;5022651;5024413;5037552 D10S275;D11S2921;D15S1477;D8S2279;G29219;L17809;L17877;MARC_3297-3298:991936980:1;RH75344;SHGC-33807 CIA1;WDR39 OTTHUMP00000161009;WD repeat-containing protein 39;WD40 protein Ciao1;cytosolic iron-sulfur protein assembly 1 homolog;probable cytosolic iron-sulfur protein assembly protein CIAO1 APPROVED protein-coding 14280 16057 604333 VALIDATED 5128566 CICP15 capicua transcriptional repressor pseudogene 15 5 180755977 180756380 - 100507648 AC138035;NG_028182 APPROVED pseudo 38549 INFERRED 3436434 CICP13 capicua transcriptional repressor pseudogene 13 1 1 1 q41 195861313 195863242 + 220708059 220710316 + 222641463 222643393 + 728615 ABBA01048056;AL513314;AMYH01001745;NG_022827 APPROVED pseudo 37907 INFERRED 7247045 CICP17 capicua transcriptional repressor pseudogene 17 642663 AACC02000075;ABBA01011811;AC012441;AMYH01017249;CH236955;NG_028679 pseudo 48827 INFERRED 7247092 CICP18 capicua transcriptional repressor pseudogene 18 646070 AL353654;AMYH01016012;NG_022338 pseudo 48828 INFERRED 7247202 CICP19 capicua transcriptional repressor pseudogene 19 100506706 AC092299;NG_028701 pseudo 48829 INFERRED 7247093 CICP20 capicua transcriptional repressor pseudogene 20 100129050 ABBA01058252;AC096582;AMYH01017224;NG_022532 pseudo 48830 INFERRED 2881604 CICP2 capicua transcriptional repressor pseudogene 2 Y Y q11.223 24832861 24836353 - 26423473 26426965 - 12815422 360016 AC012005;NG_004755 2188783 G66477 APPROVED pseudo 23935 VALIDATED 7246955 CICP21 capicua transcriptional repressor pseudogene 21 100420263 AL606534;AMYH01001882;NG_027229 pseudo 48836 INFERRED 7247194 CICP23 capicua transcriptional repressor pseudogene 23 100505953 AC069287;NG_027976 pseudo 48833 INFERRED 7246991 CICP22 capicua transcriptional repressor pseudogene 22 100288083 AACC02000038;ABBA01058145;AC004987;AMYH01017190;CH236951;NG_028664 pseudo 48838 INFERRED 1321769 CIC capicua transcriptional repressor 19 19 19 q13.2 39589613 39600745 + 47480657 47491789 + 42788817 42799949 + 1580863;6480464 16713569;17081983;15981098;15345747;15302935;15057824;12393275;9205841;22588899;19913121;20628086;17190598;19837261;20936779;21087211;21173145;21817013;21900206;22072542;22869205 23152 I3L135;I3L190;I3L1Q4;I3L2I4;I3L2J0;I3L373;Q96RK0 AB002304;ABBA01040846;AC006486;AF363689;AK025939;AMYH01009830;CH471126;NM_015125 AAD11988;AAI40444;AAK73515;BAA20765;EAW57119;EAW57120;EAW57121;NP_055940;Q96RK0 Hs.388236 1662720;1734612 D19S619E;WI-12417 KIAA0306 capicua homolog;protein capicua homolog APPROVED protein-coding ENSG00000079432 14214 10831 612082 VALIDATED 7247047 CICP24 capicua transcriptional repressor pseudogene 24 100996387 AC079355;AMYH01017425 pseudo 48831 MODEL 2974704 CICP14 capicua transcriptional repressor pseudogene 14 7 7 7 q32.1 123090937 123094605 - 128077311 128086414 - 128295178 128298845 - 100130600 ABBA01057660;AC018638;AC093183;AMYH01017921;CH471070;NG_023445 EAW83664 APPROVED pseudo 38542 VALIDATED 7247193 CICP26 capicua transcriptional repressor pseudogene 26 648262 ABBA01005824;AL360269;AMYH01001787;NG_022756 pseudo 48834 INFERRED 7247201 CICP25 capicua transcriptional repressor pseudogene 25 100289383 AC097645;AC133919;NG_027975 pseudo 48837 INFERRED 7247094 CICP28 capicua transcriptional repressor pseudogene 28 100287136 AC118758;AMYH01017289;NG_022558 pseudo 48832 INFERRED 3207430 CICP16 capicua transcriptional repressor pseudogene 16 4 119557825 119559941 - 100420203 ABBA01044687;AC110079;AMYH01014484;NG_022032 APPROVED pseudo 38550 INFERRED 7247019 CICP27 capicua transcriptional repressor pseudogene 27 100420257 AL627309;NG_027060 pseudo 48835 INFERRED 5128567 CICP6 capicua transcriptional repressor pseudogene 6 3 197949512 197953164 - 100507251 AC073135;NG_028737 APPROVED pseudo 37755 INFERRED 5128569 CICP7 capicua transcriptional repressor pseudogene 7 1 p36.33 327463 332225 - 100288667 AL732372;NG_028822 APPROVED pseudo 37756 INFERRED 2902497 CICP5 capicua transcriptional repressor pseudogene 5 1 1 q42.11 222127744 222204119 + 224133977 224137163 + 730978 AC138393;AMYH01001763;NG_016560 2117011 G09791 APPROVED pseudo 37754 INFERRED 4110359 CICP8 capicua transcriptional repressor pseudogene 8 7 7 7 p11.2 67466072 67483827 + 56383573 56401335 + 56416079 56433841 + 442676 AC093392;AMYH01017283;CH471140;NG_027793 EAX07997 APPROVED pseudo 37757 INFERRED 3277505 CICP4 capicua transcriptional repressor pseudogene 4 20 20 q13.33 62392558 62401010 - 62922193 62930566 - 100132920 AL137028;NG_016559 APPROVED pseudo 37753 INFERRED 1312677 CIB3 calcium and integrin binding family member 3 This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 16174144 16186244 - 16133179 16145286 - 16272179 16284286 - 1580863;6480464 15574431;12477932;22779914 117286 E7EUX1;M0QZ29;Q96Q77 AB050868;ABBA01051132;AC020911;AMYH01009558;AW295492;BC069320;BC069428;BC069524;BC112200;BC113591;CH471106;NM_054113 AAH69320;AAH69428;AAH69524;AAI12201;AAI13592;ADR82855;BAB71789;EAW84533;EAW84534;EAW84535;NP_473454;Q96Q77 Hs.255432 KIP3;MGC138405;MGC142151;MGC96922 DNA-dependent protein kinase catalytic subunit-interacting protein 3;KIP 3;calcium and integrin-binding family member 3;kinase-interacting protein 3 APPROVED protein-coding ENSG00000141977 24580 16713 610645 REVIEWED 3340242 CICP3 capicua transcriptional repressor pseudogene 3 1 1 p36.33 619380 649574 + 657426 661202 + 100132630 AL669831;NG_016558 APPROVED pseudo 37742 INFERRED 1347347 CIDX combined immunodeficiency, X-linked 1150 1978 3547159 CICP9 capicua transcriptional repressor pseudogene 9 10 10 38781840 38784398 + 38742216 38744725 - 100420293 ABBA01001512;AL133216;AMYH01002263;NG_025428 bA291L22.4 APPROVED pseudo 37758 INFERRED 1353261 CILD2 ciliary dyskinesia, primary 2 7240710 10745040 56162 1336552;1340650 D19S218;D19S572 1979 606763 1606728 CIB4 calcium and integrin binding family member 4 2 2 2 p23.3 26647704 26707827 - 26657577 26717715 - 26804073 26864211 - 6480464 15574431;12477932;20379614;22779914;22699663 130106 A0PJX0 ABBA01045184;ABBA01045185;ABBA01045186;AC015977;AMYH01010192;BC127684;BC127685;BC140923;CH471053;NM_001029881 A0PJX0;AAI27685;AAI27686;AAI40924;EAX00680;NP_001025052 Hs.591579 1338525;1647032;1759047;2120145;7187455 D2S174;G17673;RH65646;SHGC-151037 KIP4 OTTHUMP00000200899;calcium and integrin-binding family member 4 protein-coding ENSG00000157884 33703 18726 610646 VALIDATED 1354006 CIDEC cell death-inducing DFFA-like effector c This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 p25.3 9883398 9895740 - 9908394 9921938 - 737633;1580863;6480464 12477932 12429024;18702959;18334488;15489334;14702039;20957525;19661960;20049731;20089860;20154362;18029348;17207965;16507259;18171433;18500987;18509062;19276890;19843876;20440297;20945533;20967381;21636835;21865223;23383273 63924 Q96AQ7 ABBA01020397;ABBA01020398;AC018809;AF303893;AK024524;AK024530;AL598630;AL598731;AMYH01012964;AY364638;AY364640;BC016851;CD518729;CD519587;CH471055;NM_001199551;NM_001199552;NM_001199623;NM_022094 AAH16851;AAN32612;AAQ65242;AAR23106;ADQ31589;BAB14920;BAB14922;EAW64011;EAW64012;EAW64013;EAW64014;NP_001186480;NP_001186481;NP_001186552;NP_071377;Q96AQ7 Hs.567562 1855559;2110319 CIDE-3_8081;SHGC-76695 CIDE-3;CIDE3;FLJ20871;FPLD5;Fsp27 OTTHUMP00000158645;OTTHUMP00000207602;cell death activator CIDE-3;cell death-inducing DFFA-like effector protein C;fat specific protein 27;fat-specific protein FSP27 homolog APPROVED protein-coding ENSG00000187288 24229 13060 612120;615238 REVIEWED 1626563 CIDECP cell death-inducing DFFA-like effector c pseudogene 3 3 3 p25.3 9994690 10003273 - 10034237 10042820 - 10059237 10067820 - 12477932 152302 ABBA01020396;AC022007;AC034193;AF279614;AMYH01012966;BC006266;BC043599;BC069255;BC090925;NR_002786 AAH43599 Hs.635072 1653095;1735314;1775076;1855559;2125481;2132740;5014023;5015879;5017266 A004X28;D13S1553;D3S2947E;GDB:314949;L18506;SHGC-76695;SHGC-76700;SHGC-76726;WI-11598 CICE pseudo ENSG00000186162 24230 VALIDATED 1322465 CILP2 cartilage intermediate layer protein 2 19 19 19 p13.11 19553136 19561530 + 19510074 19518468 + 19649074 19657468 + 737633;1580863;6480464 12477932 12746903;19060906;18987386;18193044;18193043;16344560;15489334;20570916;20679960;19656773;20864672;21691831;22208664;20686565;21880736 148113 K7EPJ4;Q8IUL8 ABBA01051335;AC011448;AF542080;AK127735;AK314213;AMYH01009609;BC018939;BC034926;BC068256;CH471106;DA328640;NM_153221 AAH18939;AAH34926;AAN17826;BAG36887;EAW84832;EAW84833;NP_694953;Q8IUL8 Hs.279574 2191219 MARC_16334-16335:1017683498:1 CLIP-2;MGC45771 CILP-2;cartilage intermediate layer protein 2;cartilage intermediate layer protein-like protein 2 protein-coding ENSG00000160161 24213 16714 612419 VALIDATED 1312942 CIDEA cell death-inducing DFFA-like effector a This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010] 18 18 p11.21 12244318 12267594 + 12254318 12277594 + 1580863;1625390;6480464 16186410 10837461;16169070;9564035;15919794;18509062;18328351;18033804;17895319;17080483;14702039;12910269;12477932;20154362;21315073;18645223;19010897;20211485;20945533;20810722;21106268;21636835 1149 E5RJ03;O60543;Q8N5P9 AA683375;ABBA01074011;ABBA01074012;ABBA01074013;AF041378;AK122762;AMYH01008831;AMYH01008832;AP005264;AY364639;BC031896;BQ718688;CH471113;EF444967;HQ384162;NM_001279;NR_036468;R73455 AAC34987;AAH31896;AAQ65241;ACA05965;ACA05966;ADU05471;BAG53714;EAX01555;NP_001270;O60543 Hs.249129 1740267 D18S1085 CIDE-A OTTHUMP00000162472;cell death activator CIDE-A APPROVED protein-coding 1976 08380 604440 REVIEWED 1348941 CIITA class II, major histocompatibility complex, transactivator This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. [provided by RefSeq, Jul 2008] 16 16 p13 10878556 10926341 + 10971055 11018840 + 1600188;1580863;1358146;5491200;5491188;5491175;5491201;5491199;5491205;5491204;5491187;5491190;5491176;5491189;5491203;5491177;6480464;6907045;7242892;7242893;7242896;7242901 9099848;15821736;11466404;17043423;21653641;17183695;15808836;12828554;17693604;17661914;15897313;19221398;16426246;17711409;18593762;20478458;18292553;14569092;9422398 18437201;15771576;8402893;16600381;7749984;14528304;107465;19523152;19358337;19317741;19201831;19104823;19081173;19041327;18982019;18630461;18349319;18245089;18398440;18226342;18209080;17956914;17919972;17875550;17678724;17623662;17620097;17611194;17300840;17133579;17075826;17012290;16996793;16920747;16849401;16776848;16254053;15964851;15950283;15876426;15788405;15682480;15528357;15467734;15326139;15247301;15247294;15242870;15210796;15162420;15100295;14973505;14563641;14525769;12933903;12919287;12884309;12883198;12859996;12748124;12517958;12477932;12391224;12391222;12374747;12355430;12218128;12077331;12072194;12052885;11981818;11978778;11953317;11862382;11857059;11792431;11777970;11774613;11514574;11463838;11416140;11118314;11046145;11003667;10661406;10644363;10501838;10464099;9551976;9184229;9177217;9177216;9039770;8717517;8537130;1008718;1007865;15502823;20228799;22563434;17493635;19229048;19567623;19578796;19605748;19659749;19660582;19814686;19897249;20190752;20211854;20230522;20378664;20379614;9171108;19853614;23009575;20634887;20538595;19913121;20628086;21041720;20942939;12697811;21368758;17991736;21216962;21458073;21813598;18215421;22532676;23007646;23511026;21614020;21248776;20351748;21664896;21736733;21940994;22461888;21989738;21670739;23052709;23133532;20078946;22513452;17222823;20585587;23021357;21215072 4261 E9PFE0;I3L2E5;I3L2P7;P33076;Q66X48 ABBA01006803;ABBA01006804;AC133065;AF000003;AF410154;AMYH01007152;AY084054;AY084055;AY699071;BE247223;BM193016;CH471112;NG_009628;NM_000246;U18259;U18288;U31931;U94773;X74301 AAA88861;AAA88862;AAA92364;AAB92363;AAC39714;AAI72348;AAL04118;AAM15723;AAM15724;AAU06586;CAA52354;EAW85168;EAW85169;EAW85170;EAW85171;EAW85172;EAW85173;EAW85174;NP_000237;P33076 Hs.701991 1690216;1778392;1791798;1791944;1791946;1791948;1791950;1791956;1794514;1794894;2123969;2134994;5016478;5016781;5022578 D1S1423;GDB:434012;PMC125964P1;PMC133907P1;PMC133907P2;PMC133907P3;PMC133907P4;PMC133916P2;PMC316580P8;PMC83901P1;RH65129;RH79123;SHGC-60649;SHGC-67307;STS-U18288 C2TA;CIITAIV;MHC2TA;NLRA MHC class II transactivator;MHC class II transactivator type III;NLR family, acid domain containing;OTTHUMP00000160172;nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing APPROVED protein-coding 7067 02475 600005 REVIEWED 6484031 CIR1P2 corepressor interacting with RBPJ, 1 pseudogene 2 4 q26 115634595 115636107 - 100131828 ABBA01063846;AC122938;AMYH01014476;NG_022027 pseudo 44012 INFERRED 6484029 CIR1P1 corepressor interacting with RBPJ, 1 pseudogene 1 5 q33.2 153938864 153940000 - 100131740 ABBA01026234;AC112175;AMYH01015730;NG_021866 pseudo 44011 INFERRED 1320650 CIDEB cell death-inducing DFFA-like effector b 14 14 14 q12 4639022 4645205 - 23844233 23850416 - 24774393 24780576 - 1580863;6480464 10619428;12429024;16248853;15489334;14702039;12477932;10837461;9564035;12595532;19064571;16712791;17207965;20551328 27141 G3V4E2;Q9UHD4 ABBA01061340;AF190901;AF218586;AF544398;AI242048;AK000387;AK122828;AL096870;AMYH01005611;BC000982;BC035970;BX418750;CB162472;CH471078;DN997151;NM_014430 AAF23324;AAF27658;AAH35970;AAN37907;ADQ32263;BAA91132;BAG53748;EAW66031;EAW66032;EAW66033;NP_055245;Q9UHD4 Hs.642693;Hs.708040 1666759;1674113;1676852;1685165;1687101;1778752;2106991 CIDEB_7222;D14S1220;RH91413;RH93439;RH94061;STS-AA009760;STS-Z41293 OTTHUMP00000246430;OTTHUMP00000246431;OTTHUMP00000246432;cell death activator CIDE-B protein-coding ENSG00000136305 1977 11981 604441 VALIDATED 1352831 CIRBP-AS1 CIRBP antisense RNA 1 19 19 19 p13.3 1201703 1204491 - 1218470 1221259 - 1267470 1270259 - 737633;6480464 12477932 15489334;17207965 148046 Q8TBR5 ABBA01002636;AC004221;AC004258;AMYH01009239;BC026041;CH471139;NR_027271 ADQ32242;EAW69526;Q8TBR5 Hs.438829 C19orf23;MGC39338 APPROVED miscrna 28588 16626 VALIDATED 1312971 CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010] 15 15 q22 63275397 63290864 - 65488337 65503840 - 1625347;1580863;6480464;7240710 15334463 12746903;9722583;9722584;17220213;16453284;16413503;16344560;15864306;15489334;15378262;14962958;12975309;12483726;12477932;11315923;10601732;10319588;8889548;8125298;19569011;20724643;22107760 8483 O75339 AB022430;ABBA01038859;AC068213;AF035408;AF035455;AK225652;AK225926;AK313352;AL602624;AMYH01006717;AY358904;BC035776;CA503413;CH471082;DB071945;NG_012214;NM_003613 AAC33838;AAF14689;AAH35776;AAQ89263;ABM82198;ABM85386;BAA76692;BAG36154;EAW77717;NP_003604;O75339 Hs.442180 2109145 CILP_8815 CILP-1;HsT18872 OTTHUMP00000164180;cartilage intermediate layer protein 1;cartilage intermediate layer protein 1 C1;cartilage intermediate layer protein 1 C2;cartilage intermediate-layer protein APPROVED protein-coding ENSG00000138615 1980 11942 603489;603932 REVIEWED 1602222 CINP cyclin-dependent kinase 2 interacting protein The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. [provided by RefSeq, Jul 2013] 14 14 14 q32.31 82869127 82883762 - 101884372 101899006 - 102814619 102829253 - 6480464 16189514;16082200;14702039;12477932;16344560;19889979;21832049;21628470;17273735;19647519 51550 H0YKY0;H0YN33;Q9BW66 ABBA01048479;ABBA01048480;AF228148;AF228149;AK056112;AL137229;AMYH01006031;BC000600;BU174070;BX248279;CH471061;CR457178;DA167716;DA351468;DA699021;EL951117;NM_001177611;NM_001177612;NM_032630 AAF44747;AAF44748;AAH00600;BAB71095;CAD62607;CAG33459;EAW81785;EAW81786;NP_001171082;NP_001171083;NP_116019;Q9BW66 Hs.129634 1662131;1769872;2109147;2187284;5015619;5016478;5021396;5022651;5037552 CINP_9737;D11S2921;D11S3114;D8S2279;G36300;GDB:313783;GDB:434012;RH44578;SGC34870 MGC849 CDK2-interacting protein;OTTHUMP00000246827;cyclin-dependent kinase 2-interacting protein APPROVED protein-coding ENSG00000100865 23789 16715 613362 REVIEWED 1605581 CISD1P1 CDGSH iron sulfur domain 1 pseudogene 1 2 2 2 p24.1 19888349 19889044 + 19889354 19890250 + 20025973 20026668 + 130500 ABBA01018487;AC013400;AMYH01010148;NG_005172 CISD1B;ZCD1B APPROVED pseudo 29611 INFERRED 1602899 CIR1 corepressor interacting with RBPJ, 1 2 2 2 q31.1 168826371 168873879 - 174921124 174968689 - 175212878 175260443 - 6480464;6907045 15652350;17081983;15815621;15489334;12477932;9874765;11591653;11509665;11222720;10644367;3031469;11000236;18029348;19409814;18663143 9541 H3BLY3;Q86X95 ABBA01062187;AC018470;AF098297;AK292389;AMYH01011281;AMYH01011282;BC015040;BC021175;BC031018;BC038987;BC046098;BU596189;CH471058;NM_004882;U03644 AAA17853;AAD05243;AAH21175;AAH31018;AAH38987;AAH46098;AAY24216;BAF85078;EAX11144;EAX11145;EAX11146;NP_004873;Q86X95 Hs.632531 1856977;2109149;2127295;2133349 CIR_8954;RH65948;RH69954;RH71192 CIR CBF1 interacting corepressor;CBF1-interacting corepressor;OTTHUMP00000163177;OTTHUMP00000205180;corepressor interacting with RBPJ 1;recepin protein-coding ENSG00000138433 24217 05568 605228 VALIDATED 1319915 CISD1 CDGSH iron sulfur domain 1 This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012] 10 10 q21.1 59698921 59717868 + 60028862 60049019 + 737633;6480464 12477932 19388667;18047834;17905743;17766440;17766439;17584744;17376863;16344560;15489334;20932062;16385451;19574633;20099820;17207965;20877624;21402934;21531159;21591687;22939629;23068103;21636891;21788481;18781797;22351774;23128233;23271805;19214198 55847 Q9NZ45 ABBA01019436;AC016396;AF220049;AI025360;AK312017;AMYH01002766;AY960578;BC005962;BC007043;BC008474;BC059168;CH471083;DA417986;NM_018464 AAF67642;AAH05962;AAH07043;AAH08474;AAH59168;AAY32336;ADQ33168;BAG34955;EAW54162;EAW54163;EAW54164;EAW54165;EAW54166;NP_060934;Q9NZ45 Hs.370102 1668360;2148661 SHGC-58373;WI-11408 C10orf70;MDS029;MGC14684;ZCD1;mitoNEET CDGSH iron sulfur domain-containing protein 1;CDGSH iron-sulfur domain-containing protein 1;OTTHUMP00000019629;zinc finger CDGSH-type domain 1;zinc finger, CDGSH-type domain 1 APPROVED protein-coding ENSG00000122873 30880 12587 611932 VALIDATED 1626692 CISD3 CDGSH iron sulfur domain 3 CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008] 17 17 17 q12 33547468 33552818 + 34138986 34145383 + 36886510 36891858 + 6480464 17584744;17376863;14702039;12477932 284106 P0C7P0 ABBA01031903;AC006449;AK097047;AK098433;AMYH01008367;BC062294;CH471152;NM_001136498 EAW60525;NP_001129970;P0C7P0 Hs.713595 1676688;1690226;1729474;1770360;1778508;1852458;1857646;2154058;2156319 A007D13;D17S518;RH12584;RH17373;RH41914;RH45610;RH78331;RH91164;RH91451 Miner2 CDGSH iron sulfur domain-containing protein 3, mitochondrial;CDGSH iron-sulfur domain-containing protein 3, mitochondrial;mitoNEET related 2;mitoNEET-related protein 2 APPROVED protein-coding 27578 611933 VALIDATED 1343841 CIRBP cold inducible RNA binding protein 19 19 p13.3 1220345 1224169 + 1269267 1274809 + 1580863;6480464 9151692;17353931;19277990;19158277;16713569;16189514;15489334;15342556;15075239;15057824;14702039;12819390;12477932;11850402;9434172;9422546;9334257;11574538;16513844;18482256;22990118;21832049;22939629;17332742;19322201;21628590;21139048;21906983;21145461;19738201;21988832;22113938;22365833;23151878;23184937;23437386 1153 B3KT17;B4E2X2;D6W5Y5;K7EIF7;K7EJV5;K7ELL4;K7ELT6;K7ELV6;K7EMY9;K7ENN6;K7ENX8;K7EPM4;K7EQL0;K7EQR7;K7EQX4;K7ER40;Q14011;Q53XX5 AB451225;AB451348;ABBA01002636;AC004258;AF021336;AK094781;AK095781;AK128423;AK304185;AK304470;AK311601;AL133636;AMYH01009239;BC000403;BC000901;BI819825;BP195090;BT007210;CH471139;CX785176;D78134;HB645625;NM_001280;NR_023312;NR_023313 AAC04895;AAC51787;AAH00403;AAH00901;AAP35874;ABW03323;ABW03670;BAA11212;BAC87434;BAG52929;BAG65065;BAG65284;BAG70039;BAG70162;CBB98487;EAW69520;EAW69521;EAW69522;EAW69523;EAW69524;EAW69525;NP_001271;Q14011 Hs.618145;Hs.634522 1666250;1857496;2115171 D19S683E;IB1264;RH11815 CIRP A18 hnRNP;cold inducible RNA-binding protein;cold-inducible RNA-binding protein;glycine-rich RNA binding protein;glycine-rich RNA-binding protein CIRP protein-coding ENSG00000099622 1982 08375 602649 VALIDATED 1603794 CISD2 CDGSH iron sulfur domain 2 The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011] 4 4 q24 104009649 104029164 + 103790135 103813964 + 6480464;7240710 11076863;11256614;17846994;17584744;17376863;16381901;16344560;15489336;14724730;12477932;11317648;11230166;18029348;19580816;10739754;20649540;21832049;21139048;21890473;21963094;19322201;20010695;22779921 493856 D6RCF4;I3L1N9;Q8N5K1 AA424361;ABBA01063703;AC018797;AC083826;AF213884;AI277147;AK292134;AMYH01014432;BC020831;BC032300;BX537971;CH471057;DB351048;DB565768;DN993861;NG_008636;NM_001008388 AAH32300;BAF84823;CAD97935;CAL37687;CAL38263;EAX06148;EAX06149;NP_001008389;Q8N5K1 Hs.444955;Hs.745013 1339601;1340166;1729744;1784958;1848399;5094670;5113833;7185718 D4S1531;D4S1564;D4S246;PMC310890P8;RH16020;SHGC-111455;WI-22115 ERIS;Miner1;NAF-1;WFS2;ZCD2 CDGSH iron sulfur domain-containing protein 2;CDGSH iron-sulfur domain-containing protein 2;NAF-1;OTTHUMP00000219576;endoplasmic reticulum intermembrane small protein;mitoNEET related 1;mitoNEET-related 1 protein;nutrient-deprivation autophagy factor-1;zinc finger, CDGSH-type domain 2 APPROVED protein-coding 24212 17413 604928;611507 REVIEWED 1322745 CIRH1A cirrhosis, autosomal recessive 1A (cirhin) This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008] 16 16 q22.1 67724048 67760424 + 69166499 69202937 + 1600653;6480464;6907045;7240710 12417987 16225863;16344560;15768832;15635413;15489334;14702039;12477932;12429849;11853319;11045837;10820129;8703127;20385600;18482256;19732766;21832049;22939629;16009940;23000965;18781797;21139048;21890473;21906983;21963094;22586326;22797925 84916 H3BPD7;H3BRM8;H3BSH7;I3L4T9;J3KSE6;J3KSI1;J3KTR0;Q969X6 AB075868;ABBA01025514;ABBA01025515;ABBA01025516;AC009027;AC009131;AC208009;AK027419;AK027445;AK027584;AK027634;AK027675;AK074795;AK310104;AMYH01007765;BC000167;BC009348;BX647265;CA430627;CH471092;DA277545;NG_008278;NM_032830 AAH00167;AAH09348;BAB55100;BAB55116;BAB55212;BAB55251;BAB55287;BAB85574;BAC11214;EAW83251;EAW83252;EAW83253;EAW83254;EAW83255;EAW83256;EAW83257;NP_116219;Q969X6 Hs.461113 1671151;1701270;1789168;2141591;2142469;2144520 D16S2538E;G65582;RH104264;RH65345;SHGC-60702;SHGC-61081 CIRHIN;FLJ14728;FLJ17146;KIAA1988;NAIC;TEX292;UTP4 OTTHUMP00000174891;UTP4, small subunit (SSU) processome component, homolog;cirhin;testis expressed gene 292 APPROVED protein-coding ENSG00000141076 1983 08468 604901;607456 REVIEWED 735426 CISH cytokine inducible SH2-containing protein The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 3 3 p21.3 50618924 50624207 - 50643885 50649262 - 1580863;6480464;6484113;6907045;7240710 10902923;9465889;18820827;18647318;18508766;18420585;17666591;16684815;16344560;15489334;15470047;15231748;14707129;14630083;12648219;12618484;12586763;12477932;12077274;12076535;11713228;11032736;10969179;10517496;10514520;9774439;7796808;10585430;19913121;20628086;15644415;19592657;19595407;19807022;20484391;16961462;21383382;22033525;19622774;23426819;22213096;21234523;22817871;16273093;19805454;21988832 1154 Q9NSE2 ABBA01024543;AC096920;AF035946;AF035947;AF132297;AK313850;AMYH01013175;BC031590;BC064354;BF511692;CA435538;CH471055;D83532;DA957793;NG_023194;NM_013324;NM_145071;Z77852 AAD28471;AAF97410;AAH31590;AAH64354;AAQ13420;BAA92328;BAG36578;EAW65127;EAW65128;EAW65129;EAW65130;NP_037456;NP_659508;Q9NSE2 Hs.655334 1685504;1795566 CISH_308;RH94332 BACTS2;CIS;CIS-1;G18;SOCS OTTHUMP00000210810;OTTHUMP00000210811;cytokine-inducible SH2-containing protein;cytokine-inducible inhibitor of signaling type 1B;suppressor of cytokine signaling APPROVED protein-coding ENSG00000114737 1984 03897 602441;607948;611162;614383 REVIEWED 731048 CIT citron (rho-interacting, serine/threonine kinase 21) This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 12 12 q24 118607981 118799475 - 120123595 120315095 - 1580863;734780;6480464 11086988 9792683;19328558;17534152;17081983;16565220;16541075;16431929;15983625;15122253;14702039;12506198;12477932;12411428;10862698;10231032;9870942;8543060;12773565;22761715;19913121;20628086;20369383;20084519;20379614;16236794;22293177;22939629;21748597;19322201;19596686;21849473;21139048;21906983;17118119 11113 F5H4K4;H0YGG8;H7BYJ3;O14578 AB023166;ABBA01020076;ABBA01020077;ABBA01020078;ABBA01020079;ABBA01020080;ABBA01020081;ABBA01020082;AC002563;AC004813;AC079317;AK123136;AMYH01004792;AY209000;AY257469;AY681966;BC008127;BC047647;CH471054;NG_029792;NM_001206999;NM_007174 AAB71327;AAI56530;AAI72522;AAP13528;AAP43922;AAV87216;BAA76793;EAW98155;EAW98156;EAW98157;EAW98158;NP_001193928;NP_009105;O14578 Hs.119594 1334755;1338129;1341328;1652918;1694986;1696868;1792136;1792138;1792140;1854666;2106457;2140971;2149329;2150947;2152897;2158122;7185063 CIT_4577;D12S1666;D12S1993;D12S321;D12S395;G15656;G17631;G29083;G44706;G49179;PMC137543P1;PMC137543P2;PMC137543P3;RH15678;RH45006;RH48058 CRIK;KIAA0949;STK21 OTTHUMP00000166060;OTTHUMP00000166061;OTTHUMP00000239872;OTTHUMP00000239873;citron Rho-interacting kinase;rho-interacting, serine/threonine kinase 21;serine/threonine-protein kinase 21 APPROVED protein-coding ENSG00000122966 1985 09289 605629 REVIEWED 1344879 CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] X X q13.1 71438225 71443515 - 71521488 71527037 - 1580863;6480464 17336183;9707553;8901575;9434189;17938205;17710162;16864582;15489334;15342556;12477932;11744733;11581164;11310794;10722728;10644012;9721210;9683535;15843474;22703800;22889411;21172805;21449767 4435 C9J1P6;C9J300;C9J7P8;C9JRD8;H7C2S6;Q99966 AB451286;AB451418;ABBA01046213;ABBA01046214;AI217516;AL135749;AMYH01022553;BC004240;BP247232;CH471213;N27803;NG_015847;NM_001144885;NM_001144886;NM_001144887;NM_004143;U65092 AAC51113;AAH04240;ABM83910;ABM87231;BAG70100;BAG70232;EAW71818;EAW71819;EAW71820;NP_001138357;NP_001138358;NP_001138359;NP_004134;Q99966 Hs.40403 1656094;2134923;2217156 CITED1_3083;RH35925;SGC35157 MSG1 OTTHUMP00000023529;OTTHUMP00000023530;OTTHUMP00000023531;OTTHUMP00000023532;OTTHUMP00000023533;OTTHUMP00000023534;OTTHUMP00000023535;cbp/p300-interacting transactivator 1;melanocyte-specific gene 1;melanocyte-specific protein 1 APPROVED protein-coding ENSG00000125931 1986 02146 300149 REVIEWED 1354399 CITED4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011] 1 1 1 p34.2 39609002 39610292 - 41099315 41100605 - 41326728 41328018 - 634742;1580863;6480464 11744733 17311001;15572674;15489334;15342390;12477932;20734064;18722883;21755341 163732 Q96RK1 ABBA01023159;ABBA01023160;AC119677;AF362074;AF466291;AMYH01000540;BC035496;BC052559;CH471059;CS589327;CS589365;CS684677;CS684715;NM_133467 AAH35496;AAH52559;AAK64235;AAL73989;CAN89457;CAN89458;CAP11404;CAP11405;EAX07195;NP_597724;Q96RK1 Hs.355820 MRG-2;MSG1-related protein 2;OTTHUMP00000009206;cbp/p300-interacting transactivator 4;transcriptional co-activator 4 APPROVED protein-coding ENSG00000179862 18696 06011 606815 VALIDATED 734120 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 6 6 q23.3 139735089 139737478 - 139693392 139695787 - 634741;1581188;734781;1580863;5147850;5147852;6480464;6484113;7240710 10552932;16434029;11823447;19825367;19607804 21660965;12586840;17906695;16287139;18054336;12960175;19319572;18984668;17932483;16675452;16341674;15489334;15051727;14633989;12477932;11744733;10593900;9887100;9811838;9434189;8901575;20654020;11597177;12762840;12778114;19642106;19862010;19904269;20392269;20932315;16619037;21098220;15154850;11581164;11694877;21165656;19322201;20686565;8889548;22814619;22735262;23082118;23212831;23222517;23251661;23263863;22709740 10370 D9ZGF1;Q99967 AA400897;AA767624;ABBA01025794;AF109161;AF129290;AI087283;AL592429;AMYH01016708;BC004377;BG900380;BI763038;BM763150;BM851650;CF126189;CH471051;HM015589;NG_016169;NM_001168388;NM_001168389;NM_006079;U65093 AAC51114;AAD10055;AAF01263;AAF01264;AAH04377;ABM84222;ABM87730;ADL14510;EAW47891;EAW47892;EAW47893;EAW47894;EAW47895;NP_001161860;NP_001161861;NP_006070;Q99967 Hs.82071 1774895;1797404;2141335;5492367 CITED2_2297;D6S2114;Meis2;RH12860 ASD8;MRG-1;MRG1;P35SRJ;VSD2 MRG-1;MSG-related protein 1;MSG1-related gene 1;OTTHUMP00000017315;cbp/p300-interacting transactivator 2;melanocyte-specific gene 1-related gene 1 APPROVED protein-coding ENSG00000164442 1987 04245 602937;614431;614433 REVIEWED 1345512 CKBE creatine kinase, ectopic expression 1156 1992 1604069 CKBP1 creatine kinase B pseudogene 1 16 16 16 q11.2 31384543 31386704 - 45433772 45436133 - 46876370 46878531 - 2883200;1676982 1157 ABBA01013766;AC007225;AMYH01007642;M60806;NG_001535 pseudo 1993 INFERRED 1313304 CIZ1 CDKN1A interacting zinc finger protein 1 The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 q34.1 129968165 130006483 - 130928344 130966662 - 1580863;6480464 22447717;10529385;18583151;18081865;17508423;17108141;17081983;16341674;15585571;14702039;12824700;12477932;10369878;18654987;20831784;23074256;23145069;21890473;20360068;19531213 25792 B4E0A3;B7Z3U7;F5H2X7;F6VD24;F6WSM2;H0Y5D5;Q5SYW2;Q96KB7;Q9BTG3;Q9NYM8 AB030835;ABBA01043870;ABBA01043871;ABBA01043872;AF159025;AF234161;AK023978;AK027287;AK292713;AK296363;AK303288;AK303636;AK316393;AL590708;AMYH01021743;BC004119;BC021163;BM742088;BM743935;BM757318;CH471090;EF441870;EF467915;NG_032983;NM_001131015;NM_001131016;NM_001131017;NM_001131018;NM_001257975;NM_001257976;NM_012127;Y17452;Y17453;Y17454 AAF23231;AAF37882;AAH04119;AAH21163;ABO43037;ABR23005;BAA85783;BAB14750;BAB55017;BAF85402;BAG64365;BAG64643;BAH12333;BAH14764;CAB44345;CAB44346;CAB44347;EAW87752;EAW87753;EAW87754;EAW87755;EAW87756;EAW87757;EAW87758;NP_001124487;NP_001124488;NP_001124489;NP_001124490;NP_001244904;NP_001244905;NP_036259;Q9ULV3 Hs.212395 1644167;1770877 G09849;SHGC-6051 LSFR1;NP94;ZNF356 CDKN1A-interacting zinc finger protein 1;OTTHUMP00000022241;OTTHUMP00000022242;OTTHUMP00000022243;OTTHUMP00000022245;OTTHUMP00000022246;cip1-interacting zinc finger protein;nuclear protein NP94;zinc finger protein 356 APPROVED protein-coding ENSG00000148337 16744 13061 611420 REVIEWED 1602064 CKAP2L cytoskeleton associated protein 2-like 2 2 2 q13 106880980 106907789 - 113211915 113238657 - 113495444 113522254 - 6480464 20468071;12477932;18723088;16344560;14702039;10737800;21139048 150468 F5H0M5;F8WBE0;Q8IYA6 ABBA01074249;AC079922;AC112235;AK097948;AK292530;AK302875;AK316241;AL832036;AMYH01010966;BC036217;BF742811;CH471217;DA506407;NM_152515 AAH36217;AAX93053;AAY14923;BAC05202;BAF85219;BAG64055;BAH14612;EAW73602;EAW73603;NP_689728;Q8IYA6 Hs.434250 1855831;2155916;2171442;5015619;5020948 D11S3114;D2S1820;D2S2625;G35510;SHGC-58083 FLJ40629;MGC39683 OTTHUMP00000161988;cytoskeleton-associated protein 2-like protein-coding 26877 08285 VALIDATED 5131385 CKLF-CMTM1 CKLF-CMTM1 readthrough This locus represents naturally occurring read-through transcription between the neighboring CKLF (chemokine-like factor) and CMTM1 (CKLF-like MARVEL transmembrane domain containing 1) genes on chromosome 16. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 16 q21 66586466 66613038 + 20967262;8889548 100529251 E9PLU7;E9PSG2;H0YDF2 ABBA01025408;AC010542;AMYH01007739;BM929895;FY211334;FY212695;NM_001202509;NM_001204098;NM_001204099 NP_001189438;NP_001191027;NP_001191028 Hs.698621 CKLF-CMTM1 protein;OTTHUMP00000235185;OTTHUMP00000235186 APPROVED protein-coding ENSG00000254788 39977 VALIDATED 1323189 CKAP2 cytoskeleton associated protein 2 CKAP2 is a cytoskeleton-associated protein involved in mitotic progression (Seki and Fang, 2007 [PubMed 17376772]).[supplied by OMIM, Mar 2008] 13 13 q14 51927496 51948764 + 53029495 53050763 + 6480464 18029348;19369249;17376772;17339342;16876122;16565220;15489334;15324660;15057823;14702039;12942315;12500535;12477932;11234418;11230166;11149944;9771967;20458174;19641375;16061649;21139048;21890473;21906983;22465120 26586 C9J649;C9J7Y4;E9PD90;Q9H012 AB064212;ABBA01006537;AF177227;AJ429398;AK001611;AK022982;AK027103;AK096227;AK299083;AL136848;AL359513;AMYH01005122;AY062261;AY062262;BC010901;BC066920;BC105806;BC130296;BC136332;BM541375;CH471274;DB512858;EF560732;NM_001098525;NM_018204;Y15758 AAG33675;AAH10901;AAI05807;AAI30297;AAI36333;AAL47212;AAL47213;ABQ59042;ACE87819;ACT64373;ADR83110;BAA91788;BAB14345;BAC01840;BAG61147;CAB66782;CAC17466;CAD22295;EAW55889;EAW55890;NP_001091995;NP_060674;Q8WWK9 Hs.444028;Hs.521482;Hs.625768 1667729;1745127;1768640;1788684;1857214;2125381;2137776;5021359;5021490;5111506 A008Q05;D22S1040;GDB:594944;RH106549;RH47265;RH71287;RH71387;STS-X75342;WI-12628;WI-19223 DKFZp686L1238;FLJ10749;LB1;TMAP;se20-10 CTCL tumor antigen se20-10;OTTHUMP00000018455;OTTHUMP00000018457;OTTHUMP00000215090;OTTHUMP00000215091;cytoskeleton-associated protein 2;tumor- and microtubule-associated protein;tumor-associated microtubule-associated protein APPROVED protein-coding ENSG00000136108 1990 10832 611569 VALIDATED 1323735 CKAP4 cytoskeleton-associated protein 4 12 12 q23.3 105155910 105165843 - 106631659 106641713 - 1580863;6480464;6907045 8314870;19144824;18708633;18333895;18296695;17975794;17030514;16546853;16398404;15703217;15623521;15489334;15476176;12913003;12477932;11402071;8566419;8125298;7673362;1730740;21145461;16169070;19615732;19861536;20184665;20562859;21143984;20156774;20870746;20808887;22990118;18816836;20706999;21150319;21988832;23000965;23108156;23455922;21111237;21820419;22966120;21655359;14741744;22406481;19322201;22438586;18781797;21139048;21890473;21906983;21907836;22056955;17620599;19531213;22329826;22190034;23047949 10970 F8VVU0;Q07065 ABBA01053170;ABBA01053171;AC079174;AK123693;AK223563;AMYH01004722;BC015436;BC025341;BC037578;BC067357;BC082972;BC094824;CH471054;NM_006825;X69910 AAH25341;AAH67357;AAH82972;AAH94824;BAD97283;BAG53938;CAA49535;EAW97770;EAW97771;EAW97772;EAW97773;NP_006816;Q07065 Hs.74368 1663676;2136314;2145073;2168839;2173034;2173036;2217158 A006F36;CKAP4_3780;D12S1903;G20771;RH17418;STS-X69910;WI-20313 CLIMP-63;ERGIC-63;MGC99554;p63 63 kDa membrane protein;63-kDa cytoskeleton-linking membrane protein;OTTHUMP00000242784;cytoskeleton-associated protein 4;transmembrane protein (63kD), endoplasmic reticulum/Golgi intermediate compartment;type-II transmembrane protein p63 protein-coding ENSG00000136026 16991 16717 VALIDATED 1605408 CKAP5 cytoskeleton associated protein 5 This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 p11.2 46721660 46824419 - 46765084 46867859 - 6480464 14603251;17474147;15703215;14718566;18809577;18663358;17376965;15302935;14702039;12569123;12477932;11903063;8889548;8536682;7788527;12421765;19505873;22298430;11076968;12221128;12852856;16462731;17643375;19079262;19373773;19996280;20200978;20508983;7790358;20566684;20694011;20838383;15342556;22318606;22586326;21139048;21890473;21906983;20360068;21078624;18468998;19738201;23000965;23251535;23500468;22891263;12549820;22952844 9793 E9PQH5;H0YCF6;H0YDX5;H0YEK7;Q14008 ABBA01060728;ABBA01060729;ABBA01060730;ABBA01060731;AC021573;AC115088;AMYH01003536;AW504660;BC017856;BC035554;BC070136;BC111043;BC120869;BC120870;BM980015;BP282525;BU661430;CB052595;CH471064;D43948;NG_029924;NM_001008938;NM_014756;X92474 AAH17856;AAH35554;AAH70136;AAI11044;AAI20870;AAI20871;BAA07892;CAA63212;EAW67976;NP_001008938;NP_055571;Q14008 Hs.201253;Hs.737795 2129741;2174050;2174101;2185129;5016907 D11S1219;D11S4335;D11S4375;RH25324;STS-D43948 CHTOG;FLJ35359;KIAA0097;MSPS;TOG;TOGp;ch-TOG OTTHUMP00000233662;OTTHUMP00000233663;colonic and hepatic tumor over-expressed gene protein;colonic and hepatic tumor overexpressed gene protein;cytoskeleton-associated protein 5 APPROVED protein-coding ENSG00000175216 28959 10830 611142 REVIEWED 7248167 CKMT2-AS1 CKMT2 antisense RNA 1 14702039;16344560 100131067 ABBA01062054;AC008411;AC020901;AC026436;AK092460;AK096014;AK096680;AMYH01015445;DB051602;NR_034121;NR_034122;NR_034123 Hs.655855 miscrna ENSG00000247572 48997 VALIDATED 737472 CKM creatine kinase, muscle The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008] 19 19 q13.32 50501511 50517974 - 45809671 45826235 - 1598441;1300048;1580863;1359082;6480464;6907045 12039490;12069495 3778496;10893433;16981706;19422651;19125286;19039220;18833644;18810980;18801770;18055044;17885020;17478608;17303563;17000714;16810680;16373479;16289162;16120572;16092153;16087811;16079652;16037885;15504039;15489334;15057824;12972258;12477932;12432079;11922612;10089465;9748661;8524781;7808454;7805577;7057800;3031982;2914937;2903158;2331374;2309701;1690725;18222470;15161933;21768101;21426302;16344560;19523464;19670037;20536908;20588136;15967462;20952631;20157874;20558199;19337554;19913121;20588308;20628086;20634891;20669347;21456469;12601813;21448949;21873942;23122801;20591515;21139048;21555454;21931810;20525694;21516340;21706313;21565611;23274523 1158 B2R892;P06732 ABBA01040920;ABBA01040921;AC005781;AJ572902;AK129878;AK300730;AK313281;AMYH01009850;AY585238;BC007462;BT006793;CH471126;DA896166;DC385783;M14780;M16440;M21487;M21494;NM_001824 AAA52025;AAA52026;AAA96609;AAC62841;AAH07462;AAP35439;AAS79321;ABM84627;ABM92156;BAG36089;BAG62403;EAW57337;NP_001815;P06732 Hs.334347 1684405;1734640;2106993;2124230;5016336 CKM_7763;D19S639E;RH69074;RH80908;STS-M14780 CKMM;M-CK creatine kinase M chain;creatine kinase M-type;creatine kinase-M APPROVED protein-coding ENSG00000104879 1994 00426 123310 REVIEWED 1606001 CKLF chemokine-like factor The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011] 16 16 q21 65143967 65157655 + 66586466 66600190 + 6480464 11415443;18294340;18069042;16344560;15489334;14672709;12975309;12477932;12411060;12183067;11042152;20392439;20237496;20137403;21890473;22505724 51192 E9PIV8;E9PLU7;Q5BJH6;Q9UBR5 AA234074;ABBA01025408;AC010542;AF057306;AF096895;AF135380;AF135381;AF145216;AF151058;AK290307;AK301240;AMYH01007739;AY358999;AY665769;BC004380;BC091478;BU189908;CH471092;DA113473;DA804889;FB746680;NM_001040138;NM_016326;NM_016951;NM_181640;NM_181641 AAF06722;AAF19350;AAF19599;AAF19600;AAF21255;AAF36144;AAH04380;AAH91478;AAQ89358;AAT70694;ABM84314;ABM87707;BAF82996;BAG62809;CAT04648;EAW83019;EAW83020;EAW83021;EAW83022;NP_001035228;NP_057410;NP_058647;NP_857591;NP_857592;Q9UBR5 Hs.15159;Hs.698621 1738827;1771759 D16S2884;SHGC-36487 C32;CKLF1;CKLF2;CKLF3;CKLF4;HSPC224;UCK-1 OTTHUMP00000174791;OTTHUMP00000174792;OTTHUMP00000174793;OTTHUMP00000174794;OTTHUMP00000235182;OTTHUMP00000235183;chemokine-like factor;chemokine-like factor 1;chemokine-like factor 2;chemokine-like factor 3;chemokine-like factor 4;transmembrane proteolipid APPROVED protein-coding ENSG00000217555 13253 16718 REVIEWED 1350804 CKS1BP1 CDC28 protein kinase regulatory subunit 1B pseudogene 1 14 14 14 q32.2 76745096 76745889 + 95759089 95760006 + 96689374 96690167 + 317780 ABBA01048595;AL355102;AMYH01005977;NG_002475 CKS1BP APPROVED pseudo 20004 INFERRED 1348595 CKS1BP2 CDC28 protein kinase regulatory subunit 1B pseudogene 2 10 10 10 q11.1 29751853 29752571 + 30026770 30027678 + 29986864 29987582 + 246714 ABBA01034363;AL159170;AMYH01002215;NG_001578 bA192N10.2 pseudo 24232 INFERRED 1352719 CKS1BP3 CDC28 protein kinase regulatory subunit 1B pseudogene 3 5 5 q12.2 61843258 61844166 - 61807588 61808309 - 246715 ABBA01048362;AC008917;AC114982;AMYH01015118;NG_001579 pseudo 24233 INFERRED 4109589 CKS1BP4 CDC28 protein kinase regulatory subunit 1B pseudogene 4 11 11 q14.1 80230020 80230826 + 82920355 82921161 + 100499259 ABBA01017362;AP000873;NG_023440 pseudo 17395 INFERRED 1603442 CKMT1A creatine kinase, mitochondrial 1A Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] 15 15 q15 41772376 41778712 + 43985084 43991420 + 6907045;6480464 2914937;10893433;19415690;17028143;15489334;12477932;12401781;11874479;11768757;11602586;10748055;10737943;9746319;8923416;8125298;7896282;7808456;7525559;6584077;3400641;2324105;21145461;20302626;8692275;20877624;21628590;22190034 548596 C9J8F6;C9JT96;F8WDP9;P12532 ABBA01049634;AC011330;AK223365;AK295776;AK316052;AK316124;AK316319;AMYH01006604;BC001926;BC006467;BM923431;BT006628;NM_001015001 AAH01926;AAH06467;AAP35274;BAD97085;BAG58600;BAH14423;BAH14495;BAH14690;NP_001015001;P12532 Hs.654988;Hs.741420 1801296;1803792;1803908;1806094;1806726;1807396;1807472;1812900;1828932;1829346;1829504;1833608;1932940;1932950;1933182;1933184;1933186;1933188;1933190;1933192;1933194;1933196;2113854;2140353;2157942;2208882;2208884;2208886;2208888;2208890;2208892;2208894;2208988;2208990;2208992;5491238 AB060241;ECD01520;ECD02804;ECD02867;ECD04000;ECD04320;ECD04669;ECD04708;ECD07463;ECD15593;ECD15804;ECD15883;ECD17948;MARC_3102-3103:991936731:1;REN37302;REN37307;REN37424;REN37425;REN37426;REN37427;REN37428;REN37429;REN37430;REN37431;RH44541;WI-15193;stSG627798;stSG627799;stSG627800;stSG627801;stSG627802;stSG627803;stSG627804;stSG627879;stSG627880;stSG627881 CKMT1;CKMT1B;FLJ50967;UMTCK OTTHUMP00000066270;OTTHUMP00000066271;U-MtCK;acidic-type mitochondrial creatine kinase;creatine kinase U-type, mitochondrial;creatine kinase, mitochondrial 1 (ubiquitous);mia-CK;ubiquitous mitochondrial creatine kinase APPROVED protein-coding ENSG00000223572 31736 18683 613415 REVIEWED 4888741 CKS1BP5 CDC28 protein kinase regulatory subunit 1B pseudogene 5 5 143818811 143819510 + 100526793 ABBA01026357;AC109441;AMYH01015673;NG_027929 pseudo 17640 INFERRED 3160709 CKS1BP6 CDC28 protein kinase regulatory subunit 1B pseudogene 6 X X X p21.2 34757051 34757858 + 30545492 30545731 + 30635485 30636292 + 652904 ABBA01072964;AC005913;AMYH01022192;NG_012762 pseudo 24608 INFERRED 1352289 CLA1 cerebellar ataxia 1 (autosomal recessive) 7240710 4838888;10528257 1165 2002 610762 1348442 CKS1BP7 CDC28 protein kinase regulatory subunit 1B pseudogene 7 8 8 8 q21.13 77561654 77562418 - 81719154 81720070 - 81556687 81557451 - 18625720;18498131;17499794;15014502;8697818;15452136;19360356;19786724;19483727;19686743;15772084 137529 ABBA01004061;AC022598;AMYH01018828;NG_001577 CKS1;CKS1A CDC28 protein kinase regulatory subunit 1A APPROVED pseudo 1999 INFERRED 1350268 CLA3 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) 7240710 1167 1299965;1335976 D20S119;D20S471 2004 1346967 CLAM cerebellar atrophy with progressive microcephaly 7240710 12771259 373073 7186484 D7S669 20394 1349113 CLA2 cerebellar ataxia 2 (X-linked) 7240710 1166 2003 302500 730974 CKB creatine kinase, brain The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008] 14 14 q32 103055749 103058923 - 103985995 103989196 - 1598441;1300048;1580863;6480464;6907045 12039490 3034271;10893433;16981706;19405953;19165527;18977227;18793185;18682038;18566107;18552983;18309274;17036164;16424007;16384981;16189514;15996648;15489334;12477932;12160938;9748661;9365161;8889548;8186255;7808454;7057800;6998544;6846432;3899413;3692484;3514665;2914937;2883200;2828370;2792236;2771648;1840537;1602151;1117316;466791;20520825;18029348;19615732;19337554;20588136;20460152;21145461;21319273;22088263;20721618;20923681;22863883;22623148;21308735;19135240;22939629;21980054;16196087;15342556;21081666;18781797;20302626;21139048;21890473;21900206;21906983;21931810;21963094;21987572;22079093;17148442;17683050;21044950;21628590;19471022;22321011;22418839;22586326;20706999;21565611;23049898;20391533;16027165;22053931;19060904 1152 G3V2I1;G3V461;G3V4N7;H0YJG0;H0YJJ7;H0YJK0;P12277 ABBA01048422;ABBA01048423;AK290101;AK298198;AK312282;AL133367;AMYH01006048;BC001190;BC004914;BC008323;BC010002;BC019259;BC019281;BG720434;BM684665;BP213119;CH471061;CR542268;DQ333313;L47647;M16364;M16451;M21236;M21243;M22354;M22356;NM_001823;X15334 AAA52024;AAA76850;AAA76851;AAA76852;AAC31758;AAH01190;AAH04914;AAH08323;AAH10002;AAH19259;AAH19281;ABC67465;ADZ15755;BAF82790;BAG35211;BAG60468;CAA33389;CAG47064;EAW81820;EAW81821;EAW81822;NP_001814;P12277 Hs.173724 1728987;2113878;2145412;2181513;5106361 Egfr-rs;RH17667;RH77930;UniSTS:479983;WI-8982 B-CK;CKBB OTTHUMP00000246847;creatine kinase B chain;creatine kinase B-type;creatine kinase-B APPROVED protein-coding ENSG00000166165 1991 00423 123280 REVIEWED 1345536 CKMT1B creatine kinase, mitochondrial 1B Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008] 15 15 q15 41672544 41678896 + 43885252 43891604 + 1580863;6480464;6907045 16952984;16166745;15489334;14702039;12477932;12401781;11874479;11768757;11602586;10748055;10737943;9746319;8923416;8889548;8692275;8125298;7896282;7808456;7525559;6584077;3400641;2914937;2324105;20877624;21145461;22939629;22982673;15840729;20302626;21081666;21628590;22190034 1159 C9J6W7;C9J995;C9JFS8;C9JJX8;C9JSQ1;E9PCP8;F8WCN3;F8WFC7;J3KQ93;P12532 ABBA01017275;AC011330;AK094322;AK293685;AK293790;AK293939;AK293961;AK294002;AK294063;AK294735;AK294908;AK296271;AK296472;AK308770;AMYH01006600;BC108652;BC121001;BC121002;BI118196;BU674851;J04469;NM_020990;XM_003960586;XM_003960587 AAA98744;AAI08653;AAI21002;AAI21003;ABM84311;ABM87704;BAG57125;BAG57203;BAG57316;BAG57333;BAG57364;BAG57409;BAG57880;BAG57995;BAG58981;BAG59114;NP_066270;P12532;XP_003960635;XP_003960636 Hs.741420 1801296;1803792;1803908;1806094;1806726;1807396;1807472;1812900;1828932;1829412;1833608;1932934;1932936;1932938;1932940;1932942;1932944;1932946;1932948;1932950;1933186;1933190;1933192;1933194;2113854;2140353;2157942;2208886;2208894;2208992;5491238 AB060241;ECD01520;ECD02804;ECD02867;ECD04000;ECD04320;ECD04669;ECD04708;ECD07463;ECD15593;ECD15837;ECD17948;MARC_3102-3103:991936731:1;REN37299;REN37300;REN37301;REN37302;REN37303;REN37304;REN37305;REN37306;REN37307;REN37426;REN37428;REN37429;REN37430;RH44541;WI-15193;stSG627800;stSG627804;stSG627881 CKMT;CKMT1;CKMT1A;UMTCK OTTHUMP00000066275;OTTHUMP00000200125;U-MtCK;acidic-type mitochondrial creatine kinase;creatine kinase U-type, mitochondrial;creatine kinase, mitochondrial 1 (ubiquitous);mia-CK;ubiquitous mitochondrial creatine kinase APPROVED protein-coding ENSG00000237289 1995 00424 123290 REVIEWED 1343148 CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q13.3 80564895 80597973 + 80529139 80562217 + 1580863;6480464;6907045 2324105;10893433;17289898;16344560;16169070;16020522;15489334;15044463;14702039;12477932;12401781;11874479;11768757;10748055;10674997;10462222;9746319;9312135;8276398;7808456;2914937;1917943;20877624;12601813 1160 D6R998;D6RHV3;P17540 ABBA01062054;AC020901;AC026436;AK122769;AK313293;AMYH01015445;AW300490;BC029140;CH471084;CR450315;DA826840;DB479765;DC308656;J05401;NM_001099735;NM_001099736;NM_001825 AAA60561;AAH29140;ABM81707;ABW03302;BAG36100;BAG53719;CAG29311;EAW95865;EAW95866;EAW95867;NP_001093205;NP_001093206;NP_001816;P17540 Hs.80691 1645771;1647736;1657716;1700680;1712264;1735482;2112210;2156258 D5S1603E;D5S2780;G54040;RH103963;RH69170;SHGC-36959;SHGC-57332;WI-17791 SMTCK OTTHUMP00000147542;OTTHUMP00000222351;S-MtCK;basic-type mitochondrial creatine kinase;creatine kinase S-type, mitochondrial;mib-CK;sarcomeric mitochondrial creatine kinase APPROVED protein-coding ENSG00000131730 1996 00425 123295 REVIEWED 1314775 CLCA1 chloride channel accessory 1 This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008] 1 1 p22.3 86707114 86738565 + 86934526 86965977 + 1580863;4145653;4145655;4145656;4145657;1331524;4145661;6480464 17898169;17637221;15318163;15218996;14985398;11296262 17698377;17621552;17426222;16470849;16465045;16344560;16148052;16023076;15919655;15490240;14702039;14512419;12568493;12408984;12110680;11994272;11842292;11071307;10737800;10617765;10437792;9828122;10758170;20464982;19307298;19423540;19530997;19834535;20179644;20406964;20438785;19913121;20628086;20542744;23112050;21762802 1179 A8K7I4 AA508854;ABBA01045619;AF039400;AF039401;AF127036;AK024970;AK097057;AK291999;AK300858;AK314375;AL122002;AMYH01000764;AW361520;AW750670;CH471097;DA428844;NM_001285 A8K7I4;AAC95428;AAC95429;AAD25487;AAI41452;AAI56806;BAF84688;BAG37002;BAG53415;BAG62508;EAW73186;NP_001276 Hs.194659 CACC;CACC1;CLCRG1;CaCC-1;FLJ95147;GOB5;hCLCA1;hCaCC-1 CLCA family member 1, chloride channel regulator;OTTHUMP00000011907;calcium-activated chloride channel family member 1;calcium-activated chloride channel protein 1;calcium-activated chloride channel regulator 1;calcium-dependent chloride channel-1;chloride channel regulator 1;chloride channel, calcium activated, family member 1 APPROVED protein-coding ENSG00000016490 2015 04880 603906 REVIEWED 1344929 CKS1B CDC28 protein kinase regulatory subunit 1B CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008] 1 1 q21.2 153213838 153218346 + 154947118 154951725 + 6480464;6907045 9276444;12813041;2227411;8601310;11231585;19161979;18922157;18471975;17464290;17377499;17303695;16979657;16924241;16209941;16188652;16168119;15772084;15579456;15489334;15146197;15014502;12529174;12477932;12473461;12140288;8697818;7791211;18519678;11907280;20688354;17409098;19615732;19786724;19845855;19866239;20379614;16712791;20465575;20737481;20733055;16338391;21145461;21117028;20930946;22939629;19483727;19584057;20360068;21917729;20733051;21890473;22047644;15980415;21697511;14622140;20682791;22302047;11463388;18239684;23000965;22505724;20421271 1163 P61024;Q5T178;Q5T179;Q9BZU3 ABBA01016724;AF274941;AF274943;AF279897;AK307066;AK311769;AL451085;AMYH01001420;BC007751;BC015629;BC070319;BC070320;BQ883992;BT007196;CB161621;CH471121;CN347951;NG_029028;NM_001826;NR_024163;X54941 AAH07751;AAH15629;AAH70319;AAH70320;AAK07518;AAK07520;AAK07553;AAP35860;ABM81626;ABM83898;ABM84810;ABM86884;ABW03287;ABW03288;BAG34712;CAA38702;EAW53160;EAW53161;EAW53162;EAW53163;EAW53164;EAW53165;EAW53166;NP_001817;P61024 Hs.374378 5015961;5020911;5022576;5037552 D15S1477;D17S1978;D1S1361;D8S2279 CKS1;PNAS-16;PNAS-18;ckshs1 CDC2-associated protein CKS1;CDC28 protein kinase 1;CDC28 protein kinase 1B;CKS-1;NB4 apoptosis/differentiation related protein;OTTHUMP00000035541;PNAS-143;cell division control protein CKS1;cyclin-dependent kinases regulatory subunit 1 APPROVED protein-coding ENSG00000173207 19083 00299 116900 REVIEWED 1348782 CKS2 CDC28 protein kinase regulatory subunit 2 CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008] 9 9 q22 91115933 91121438 + 91926113 91931618 + 1580863;6480464 15504738;8211159;2227411;19034516;18625720;18498131;17388661;17336302;16189514;16169070;15900300;15489334;12477932;8697818;15989971;18471975;19845855;20920335;19483727;21617860;21672358;20360068;21139048;21906983;21948653;21988832;23000965;23121546;14622140;19786724;21697511;22505724 1164 P33552 ABBA01004612;AF506708;AL160054;AMYH01021494;BC006458;BC020345;BT006630;CH471089;CR407630;CR542118;CS185526;HI519560;NM_001827;X54942 AAH06458;AAM22232;AAP35276;CAA38703;CAG28558;CAG46915;CAJ42707;CBX54361;EAW62762;NP_001818;P33552 Hs.83758 1663329;2183374;5491318 MARC_9703-9704:996688537:1;SGC31294;SHGC-11955 CKSHS2 CDC28 protein kinase 2;CKS-2;CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2;OTTHUMP00000021616;cyclin-dependent kinases regulatory subunit 2 APPROVED protein-coding ENSG00000123975 2000 00300 116901 REVIEWED 1347770 CLASRP CLK4-associating serine/arginine rich protein 19 19 19 q13.3 42346597 42378501 + 50234138 50266054 + 45542298 45574214 + 6480464 17081983;16713569;16189514;15761153;15489334;15302935;14702039;12975309;12477932;12169693;14623875;19773279;22990118;20811636;21832049;15604093;22094256 11129 F5H0Q6;F8WAG9;K7EKC9;K7EKR8;K7EM61;K7EP11;Q8N2M8 ABBA01040907;ABBA01040908;ABBA01040909;AC011489;AF042800;AF042810;AK074590;AK094681;AK293333;AL080189;AMYH01009847;AY358944;BC013178;BC080554;BC131496;CH471126;NM_001278439;NM_007056;NR_103529 AAC82339;AAC82340;AAH80554;AAQ89303;BAG52910;BAG56849;EAW57317;EAW57318;EAW57319;NP_001265368;NP_008987;Q8N2M8 Hs.466917 2110701;5024039 D16S325;RELB_8590 CLASP;FLJ90109;SFRS16;SWAP2 CLK4-associating serine/arginine rich protein;Clk4 associating SR-related protein;OTTHUMP00000196564;splicing factor, arginine/serine-rich 16;suppressor of white apricot homolog 2;suppressor of white-apricot homolog 2 APPROVED protein-coding ENSG00000104859 17731 11552 VALIDATED 1345540 CLC Charcot-Leyden crystal galectin Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] 19 19 q13.1 44913735 44920508 - 40221893 40228669 - 1580863;6480464;7240710 8400237;17502455;17166282;16457599;16015083;15489334;15057824;12714580;12477932;12031912;10529229;9119387;8747464;8419478;6511787;2709814;2160563;2160562;1577491;1373430;942977;19497882;19650845;19758173;20237496;20858065;22880030;23894747;21716316;11834744 1178 C5HZ13;Q05315 ABBA01040734;AC005393;AC006133;AMYH01009794;AV715261;AV762486;AW292557;BC119711;BC119712;CH471126;FJ613334;FJ613335;L01664;L01665;NM_001828;U68398 AAA36190;AAC28912;AAC37530;AAC51157;AAI19712;AAI19713;ACR09636;ACR09637;EAW56914;NP_001819;Q05315 Hs.889 1683062;1756783;2130757 RH71350;RH80211;SHGC-143915 GAL10;Gal-10;LGALS10;LGALS10A;LPPL_HUMAN;MGC149659 Charcot-Leyden crystal protein;eosinophil lysophospholipase;gal-10;galectin 10;galectin-10;lectin, galactoside-binding, soluble, 10;lysolecithin acylhydrolase APPROVED protein-coding ENSG00000105205 2014 08351 153310;610313 REVIEWED 1322173 CLASP1 cytoplasmic linker associated protein 1 CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008] 2 2 q14.2-q14.3 121811825 122123522 - 122095352 122407052 - 1580863;6480464 12837247;15631994;17342765;15928712;16866869;17113391;16914514;11290329;16824950;16145243;16000324;15815621;15489334;15324660;15302935;14702039;14504462;12477932;10899121;9734811;17353931;19913121;20628086;17543864;20852589;11076968;12221128;12852856;16462731;19561070;19701196;20508983;7790358;23383273;22939629;20360068;21822276;22307330;21139048;21890473;21906983;19322201;17979178;23000965 23332 A2RU21;B7ZLX3;C9J151;C9JP76;F5GWM7;F5GWS0;F5H2E2;F8WA11;H0Y5T1;H0YHV8;Q7Z460 AB014522;ABBA01032240;ABBA01032241;ABBA01032242;ABBA01032243;ABBA01032244;ABBA01032245;ABBA01032246;AC012447;AC013399;AC018737;AC079449;AF347693;AJ288057;AK074338;AK091140;AK123216;AK294922;AK297259;AK297420;AK299331;AK301814;AK302393;AMYH01010995;AMYH01010996;AMYH01010997;AMYH01010998;AY425956;BC032563;BC112940;BC132723;BC144107;BE328429;BX648523;BX648933;CH471103;CR749627;CR933722;NM_001142273;NM_001142274;NM_001207051;NM_015282 AAH32563;AAI12941;AAI32724;AAI44108;AAQ15051;AAR07949;AAX88872;BAA31597;BAH11926;BAH12531;BAH12576;BAH13003;BAH13560;BAH13694;CAC35156;CAH18421;CAI46251;EAW95252;EAW95253;EAW95254;EAW95255;NP_001135745;NP_001135746;NP_001193980;NP_056097;Q7Z460 Hs.469840;Hs.708183 1651117;1654497;1664344;1685922;1696926;1700060;1853034;2125799;2161486;2173564;2184815;5017771;5023733 AU048745;CLASP1;D2S2023;D2S2769;RH101932;RH103643;RH41982;RH47590;RH80927;SHGC-33842;STS-AA004622;WI-14100;WIAF-1467 DKFZp686D1968;DKFZp686H2039;FLJ33821;FLJ41222;KIAA0622;MAST1;MGC131895 CLIP-associating protein 1;OTTHUMP00000203754;OTTHUMP00000207290;cytoplasmic linker-associated protein 1;hOrbit1;multiple asters 1;multiple asters homolog 1;protein Orbit homolog 1 APPROVED protein-coding ENSG00000074054 17088 09322 605852 VALIDATED 1352211 CLCA3P chloride channel accessory 3, pseudogene This gene is a transcribed pseudogene belonging to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. This gene contains several nonsense codons compared to other family members that render the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this gene is unlikely to be protein-coding. [provided by RefSeq, Jan 2009] 1 1 1 p31-p22 85343591 85364697 + 86872547 86893647 + 87099959 87121059 + 1580863 10095065;12477932;11071307;10584316 9629 Q9Y6N3 ABBA01045613;AF043976;AL356270;AMYH01000764;NR_024604 AAD23734;Q9Y6N3 Hs.673847 1709208 SHGC-85784 CLCA3 APPROVED pseudo ENSG00000153923 2017 05065 604337 REVIEWED 1312594 CLCA2 chloride channel accessory 2 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Since this protein is expressed predominantly in trachea and lung, it is suggested to play a role in the complex pathogenesis of cystic fibrosis. It may also serve as adhesion molecule for lung metastatic cancer cells, mediating vascular arrest and colonization, and furthermore, it has been implicated to act as a tumor suppressor gene for breast cancer. [provided by RefSeq, Jul 2008] 1 1 p22.3 86662413 86694829 + 86889769 86922241 + 6480464 18950845;16873362;16158324;15707651;14512419;12612194;12477932;12110680;11320086;11262615;11149902;11071307;10737800;10584316;10554024;10437792;10362588;10758170;19423540;19654313;20406964;20438785;22431922;21909135;15174051;22990203 9635 Q9UQC9 AB026833;ABBA01045619;ABBA01045620;AC119749;AF043977;AF114429;AF127980;AK290348;AK307937;AMYH01000764;BC041096;BE062109;CH471097;CS223381;HH935296;HI939026;HI939139;HI939252;HI987322;HI988477;HI988590;JA032845;JA033052;JA033653;JA142875;JA188626;JA188739;JA282313;JA288778;JA421412;NM_006536 AAD40367;AAD48397;AAF21968;AAH41096;BAA77810;BAF83037;CAJ46930;CBX36868;CBY79740;CBY79759;CBY79778;CBY88734;CBY88762;CBY88781;CCA61670;CCA61689;CCA61708;CCA64035;CCA64156;CCA64175;CCA65385;CCA65416;CCD32745;EAW73187;NP_006527;Q9UQC9 Hs.241551 1657429;1721183;1724031;1781812;2109153;5094350 CLCA2_8968;G54627;G59429;RH119026;SHGC-156130;SHGC-75095 CACC;CACC3;CLCRG2;CaCC-3;FLJ97885 CLCA family member 2, chloride channel regulator;OTTHUMP00000011911;calcium-activated chloride channel family member 2;calcium-activated chloride channel protein 3;calcium-activated chloride channel regulator 2;calcium-activated chloride channel-2;chloride channel regulator 2;chloride channel, calcium activated, family member 2;hCLCA2;hCaCC-3 APPROVED protein-coding ENSG00000137975 2016 04923 604003 REVIEWED 733933 CLASP2 cytoplasmic linker associated protein 2 3 3 p22.3 33512741 33734852 - 33537737 33759705 - 1580863;6480464 11290329;15928712;17113391;12837247;19289791;16914514;16866869;16824950;15955847;15631994;15489334;15207236;14702039;12477932;10899121;9734811;17353931;17543864;16484223;19615732;19632184;19701196;20219685;20379614;19924516;22990118;23045552;23035100;22467876;22307330;16344560;20360068;21782439;21139048;21890473;22145905;23184937 23122 B2RTR1;B3KR06;C9J668;D6RBU8;E3W994;E7ENG2;E7ERI8;E7EW49;E9PBA6;F5H3X0;F5H604;H7C4I5;H7C4M5;H7C4X8;H7C5M8;J3KR49;O75122 AB014527;ABBA01024900;ABBA01024901;ABBA01024902;ABBA01024903;ABBA01024904;AC093114;AC113170;AC132515;AJ288059;AK024770;AK090716;AK091451;AK293963;AK294345;AK297322;AL137636;AMYH01013069;BC011530;BC029035;BC140778;BX640725;CH471055;DA321422;DQ200868;DQ200869;NM_001207044;NM_015097 AAH11530;AAH29035;AAI40779;ABB13628;ABB13629;BAA31602;BAB14995;BAC03667;BAG52218;BAG57335;BAG57614;BAG59785;CAB70852;CAC35158;CAE45842;EAW64459;EAW64460;EAW64461;EAW64462;EAW64463;EAW64464;EAW64465;EAW64466;EAW64467;NP_001193973;NP_055912;O75122 Hs.108614 1340316;1644141;1657616;1662994;1677306;1722773;1857468;1857470;2141216;2168147;2171914 A001Y47;D3S3370;D3S3518;D3S3987;G16571;G19803;G60325;NIB555;RH12892;RH92587;WI-14630 OTTHUMP00000209953;OTTHUMP00000215958;OTTHUMP00000215959;OTTHUMP00000216018;cytoplasmic linker-associated protein 2;hOrbit2;multiple asters (Mast)-like homolog 2;protein Orbit homolog 2 protein-coding ENSG00000163539 17078 12054 605853 VALIDATED 1351138 CLCA4 chloride channel accessory 4 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq, Dec 2008] 1 1 1 p31-p22 85256746 85290417 + 86785347 86819025 + 87012759 87046437 + 1580863;6480464 16344560;15490240;12975309;12477932;11071307;10437792;8889548;10758170 22802 A8MQC9;Q14CN2 ABBA01045614;ABBA01045615;ABBA01045616;ABBA01045617;ABBA01045618;AF127035;AK000072;AK000138;AK293766;AK307785;AK307898;AK314430;AL122002;AMYH01000764;AY358470;BC113687;BC113689;CB851641;CH471097;DA668017;DA761219;NM_012128;NR_024602 AAD48398;AAI13688;AAI13690;AAQ88834;ADR83285;BAA90969;BAH11591;EAW73184;EAW73185;NP_036260;Q14CN2 Hs.567422 CaCC;CaCC2;MGC142247;MGC142249 OTTHUMP00000011915;caCC-2;calcium-activated chloride channel family member 4;calcium-activated chloride channel protein 2;calcium-activated chloride channel regulator 4;chloride channel regulator 4;chloride channel, calcium activated, family member 4;hCLCA4;hCaCC-2 APPROVED protein-coding ENSG00000016602 2018 16719 REVIEWED 1604384 CLCC1 chloride channel CLIC-like 1 1 1 1 p13.3 107741688 107775523 - 109273653 109307634 - 109472130 109506111 - 6480464 21145461;16344560;15342556;14702039;12477932;11279057;9872452;18029348;20416077;21987572;21890473;21963094;11826282;22053931 23155 Q5T1P5;Q96S66 AB018304;AB052915;AB052916;AB052917;AB052918;ABBA01068357;AK090563;AL449266;AL550290;AMYH01000928;BC002939;BP282246;BQ685798;CH471122;CS265768;DA247339;NM_001048210;NM_001278202;NM_001278203;NM_015127 AAH02939;ABM83625;ABM86867;BAA34481;BAB59018;BAB79261;BAB79262;BAB79263;BAG52186;CAJ78403;EAW56345;EAW56346;EAW56347;EAW56348;EAW56349;NP_001041675;NP_001265131;NP_001265132;NP_055942;Q96S66 Hs.658489 1663594;1681470;1683910;1722273;1768979;1774998;1775685;1846897;2109367;2152566;2154684;2170165;2177687;5015404;5016478;5020946;5024413;5037552;5109281 A004S40;D1S1425;D8S2279;G60047;GDB:434012;GPSM2_9599;L17705;L17877;L17971;NIB1477;RH71239;RH98217;SHGC-37685;SHGC-58248;SHGC-75269;SHGC-75285;SHGC-75294;SHGC-75299;WI-18680 KIAA0761;MCLC;RP11-475E11.6 Mid-1-related chloride channel 1;Mid1-related chloride channel;OTTHUMP00000013438;OTTHUMP00000013440;OTTHUMP00000013442;chloride channel CLIC-like protein 1;mid-1-related chloride channel protein 1 protein-coding ENSG00000121940 29675 17471 VALIDATED 734112 CLCN1 chloride channel, voltage-sensitive 1 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 7 7 q35 142723341 142759219 + 143013219 143049097 + 704389;1580863;6480464;7240710 7951242 22187529;9122265;1379744;19211598;18816629;18807109;18624224;18337730;18321245;18263754;18227271;18220014;18035046;17998485;17990293;17826470;17693413;17664348;17107341;17097617;16854622;16567465;16321142;16027167;15786415;15623702;15311340;15241802;14718533;14564431;12853948;12691663;12661046;12477932;12150906;12150905;11933197;11840191;11113225;11076863;10720929;10690989;10215406;10198195;9736777;9566422;8845168;8741388;8571958;8533761;8301644;8112288;7981750;7981681;7874130;7735894;7581380;3983641;14657503;20399394;22521272;21413926;19913121;20628086;18337100;19220292;19697366;19773279;19949657;20047568;20120005;20379614;20398785;21385601;21045501;23424641;23097607;23113340;23152584;21204798;22106717;22246887;23408874;22094069;22649220;20301529;22790975;22689570;22407275;22641783 1180 H7C0N6;H7C1F4;P35523 AACC02000107;ABBA01034134;ABBA01034135;AC073342;AC093673;AMYH01018007;AY103154;AY103155;AY103156;BC112156;BC113495;BC143796;CH236959;CH471198;L08263;M97820;NG_009815;NM_000083;NR_046453;Z25587;Z25752;Z25753;Z25757;Z25760;Z25762;Z25768;Z25872;Z25884 AAI11587;AAI12157;AAI13496;AAS07500;CAA80996;CAA81103;CAB56792;CAB56814;EAL23786;EAW51858;EAW51859;NP_000074;P35523 Hs.121483 1743785;1743851;1743853;1743855;1743857;1743859;1743861;1743863;1743865;1743867;1743869;1743871;1743873;1743875;1743877;1743879;1743881;1743883;1743885;1743887;1743889;1743891;1743893;1745821;1745823;1745825;1745827;1745829;1745831;1745833;1745835;1745837;1745839;1745841;1745843;1745845;1745847;1745849;1745851;1745853;1745855;1745857;2108727;2120640;2135018;2146877 CLCN1;CLCN1_7765;GDB:1317254;GDB:373603;GDB:374988;GDB:375007;GDB:375010;GDB:375013;GDB:375016;GDB:375019;GDB:375022;GDB:375025;GDB:375028;GDB:375031;GDB:375034;GDB:375037;GDB:375040;GDB:375043;GDB:375046;GDB:375049;GDB:375052;GDB:375055;GDB:375058;GDB:375061;GDB:375064;GDB:375067;GDB:677002;GDB:677007;GDB:677010;GDB:677013;GDB:677018;GDB:677053;GDB:677067;GDB:677070;GDB:677073;GDB:677079;GDB:677082;GDB:677085;GDB:677099;GDB:677102;GDB:677105;GDB:677108;GDB:677111;GDB:677114;GDB:677117;RH71311 CLC1;MGC138361;MGC142055 OTTHUMP00000202223;chloride channel 1, skeletal muscle;chloride channel protein 1;chloride channel protein, skeletal muscle;clC-1 APPROVED protein-coding ENSG00000188037 2019 00320 118425;160800;255700 REVIEWED 730986 CLCN3 chloride channel, voltage-sensitive 3 This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 4 4 q33 170778297 170878732 + 170541672 170644338 + 734783;1580863;6480464 12059962 16344560;12471024;7665160;18077605;17977943;17976378;17908687;17882904;17869465;17360969;16522634;16381901;15489336;15073168;12843258;12842831;12477932;12183454;11967229;11306429;11274166;11230166;11076863;10198195;9843494;9678416;9521585;16033995;15596438;22371056;18986326;20139089;21115901;20945353;21792908;15342556;21071705;21378974;21445064;22108225;22049206;22496242;23006728;23345219 1182 B3KXK0;B9EGJ9;D6RDZ6;D6RIX3;E9PE15;H0Y8Z8;P51790 AA780395;AB019542;ABBA01070342;AC084724;AC106878;AF029346;AF086418;AF172729;AK127483;AK304362;AL117599;AMYH01014703;AMYH01014704;BC026256;BC054877;BC058818;BC136510;BP284718;BX647119;CH471056;DA102505;NG_029731;NM_001243372;NM_001243374;NM_001829;NM_173872;X78520 AAB95161;AAD51034;AAH54877;AAI36511;AAI46698;BAC54560;BAG54512;BAH14168;CAA55280;CAA55281;CAL37829;EAX04782;EAX04783;EAX04784;EAX04785;EAX04786;NP_001230301;NP_001230303;NP_001820;NP_776297;P51790 Hs.481186;Hs.736017 1649761;1675035;1675826;1678577;1771796;1846998;1851689;2121195;2147069;2156943;2171015;2175550;2176292;2177502;2182669;2183067;2187116;2187118;2187120 A002B34;D4S2506E;D4S2510E;D4S2563E;D4S2677;G19897;RH91155;SHGC-50268;SHGC-50487;SHGC-51266;SHGC-51377;SHGC-59347;SHGC-59505;SHGC-59606;SHGC-59636;SHGC-59697;SHGC-67333;SHGC4-1562;STS-R65780 CLC3;ClC-3;DKFZp564I0463 H(+)/Cl(-) exchange transporter 3;OTTHUMP00000219460;OTTHUMP00000219503;OTTHUMP00000219505;OTTHUMP00000219506;chloride channel 3;chloride channel protein 3;chloride transporter ClC-3 APPROVED protein-coding ENSG00000109572 2021 02785 600580 REVIEWED 1342594 CLCN4 chloride channel, voltage-sensitive 4 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012] X X p22.3 10084985 10165700 + 10124985 10205700 + 1580863;6480464 8619474;8069296;10564087;19364886;17023393;16176272;16129671;16034421;15342556;15057754;12477932;10198195;9110174;8661129;8125298;7759088;19546591;20087350;21354396 1183 B7Z5Z4;E9PFB5;G3XAG5;P51793 AB019432;ABBA01070799;ABBA01070800;ABBA01070801;ABBA01070802;ABBA01070803;ABBA01070804;ABBA01070805;ABBA01070806;ABBA01070807;ABBA01070808;ABBA01070809;ABBA01070810;ABBA01070811;AC002364;AC003666;AC121345;AF052117;AF170492;AK225287;AK289564;AK299611;AMYH01022074;BC036068;BC130278;BP310547;CH471074;NG_012496;NM_001256944;NM_001830;X77197 AAC83175;AAD50981;AAH36068;AAI30279;ADR83252;BAA77327;BAF82253;BAH13080;CAA54417;EAW98777;EAW98778;NP_001243873;NP_001821;P51793 Hs.495674 1340030;1658686;1664071;1704992;1722481;1767891;1849860;1849862;2155112;2164582;2217160;5095060 A004U24;A005P03;A008T30;CLCN4;CLCN4_3951;DXS6975E;DXS7108;G20389;G60164;SHGC-78004;STS-AA018252;STS-X77197 CLC4;ClC-4;ClC-4A;MGC163150 H(+)/Cl(-) exchange transporter 4;OTTHUMP00000022893;OTTHUMP00000022895;chloride channel 4;chloride channel protein 4;chloride transporter ClC-4 APPROVED protein-coding ENSG00000073464 2022 02362 302910 REVIEWED 1606817 CLCF1 cardiotrophin-like cytokine factor 1 This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] 11 11 q13.3 66888215 66897782 - 67131639 67141648 - 6480464;6907045;7240710 17436251;10966616;10500198;14632778;10448081;18728012;16782820;15489334;12639901;12477932;11294841;11285233;15272019;16341674;21097510;21370513;23455922 23529 Q9UBD9 ABBA01024038;ABBA01024039;AF172854;AF176911;AF176912;AK298052;AMYH01003744;AMYH01003745;AP003419;AY049779;BC012939;BC066229;BC066230;BC066231;BM846622;CH471076;DC393345;GM662943;NG_013377;NM_001166212;NM_013246 AAD54284;AAF00991;AAF00992;AAH12939;AAH66229;AAH66230;AAH66231;AAL15436;ABM82451;ABM85641;BAG60346;CAV33841;EAW74601;EAW74602;NP_001159684;NP_037378;Q9UBD9 Hs.502977 1795568;2135540 CLC_34;RH68115 BSF-3;BSF3;CISS2;CLC;NNT-1;NNT1;NR6 B-cell stimulating factor 3;B-cell stimulatory factor 3;B-cell-stimulating factor 3;CRLF1 associated cytokine-like factor 1;OTTHUMP00000236394;OTTHUMP00000236395;cardiotrophin-like cytokine factor 1;neurotrophin-1/B-cell stimulating factor-3;novel neurotrophin-1 APPROVED protein-coding ENSG00000175505 17412 09643 607672;610313 REVIEWED 1350902 CLCP1 Charcot-Leyden crystal protein pseudogene 1 22 22 22 q11.2 1525701 1526308 - 16283192 16283999 - 17903292 17903899 - 266626 ABBA01001448;AC004019;AMYH01012434;NG_002369 pseudo 19257 INFERRED 733366 CLCN2 chloride channel, voltage-sensitive 2 This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 3 3 q27-q28 185547034 185562085 - 184063973 184079439 - 704390;704404;1580863;6480464;7240710 8811102 7795595;19232516;19191339;18801843;17882904;17762171;17580110;16932951;16469788;16049054;15508929;15507145;15505175;15489334;15464978;15388342;15272009;15252188;15010473;12843258;12601004;12477932;11976342;11880269;11306429;10888596;10198195;16344560;19574231;19710712;19711355;20187760;22405205;23275563;21956164;21906983;22321011;22613974 1181 H7C0Q8;P51788 AA524434;ABBA01058446;AC078797;AF026004;AK298952;AK302389;AK302759;AMYH01013718;AU132760;BC021578;BC072004;BX089717;CH471052;DB533341;DC403930;NG_016422;NM_001171087;NM_001171088;NM_001171089;NM_004366;S77770 AAB34722;AAB88807;AAH21578;AAH72004;BAG61051;BAG63705;BAG63970;EAW78248;EAW78249;EAW78250;NP_001164558;NP_001164559;NP_001164560;NP_004357;P51788 Hs.436847 1342408;1671404;1740259;2122661;2173309 D3S1682;D3S3725;HSC2IC072;SHGC-77635;WI-11757 CIC-2;CLC2;ECA2;ECA3;EGI11;EGI3;EGMA;EJM6;EJM8;clC-2 OTTHUMP00000210513;OTTHUMP00000210514;OTTHUMP00000210515;OTTHUMP00000210516;chloride channel 2;chloride channel protein 2;clC-2 APPROVED protein-coding ENSG00000114859 2020 02782 600570;607628 REVIEWED 5485766 CLCP2 Charcot-Leyden crystal protein pseudogene 2 13 13 q34 114090225 114090641 + 115072065 115072671 + 19497882 100128145 ABBA01006264;AL160396;AMYH01005417;BK006815;NG_011415;NG_029528 1782876 SHGC-153561 KIAA1802;LGALS10P1 pseudo 42536 INFERRED 733029 CLCN5 chloride channel, voltage-sensitive 5 This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] X X p11.23-p11.22 49718955 49750632 + 49687225 49863892 + 1302221;704404;628538;1580863;6480464;7240710 7874126;12475763 12631345;8559248;14675051;19131966;19019917;18540256;18322545;18184518;18029348;18025833;18019214;17262170;17195847;16822791;16807762;16686597;16034421;15772651;15719255;15702377;15692680;15571186;15489223;15086899;14702039;14569459;13679301;12904289;12886045;12637640;12631358;12477932;10198195;9931332;9653142;9602200;9259268;9187673;9169421;9062355;8575751;8111383;8099916;7753256;22824269;20049483;20513761;21305656;19546586;19546591;19657328;19673950;19713962;19806368;19940036;20421284;20501796;20680351;16344560;22695891;22735364;23029130;23047739;23211344;23226131;23566014;23824909;22267722;21139048;21890473;21906983;8530041;22876375;23572577 1184 A8K4H5;B3KRR2;P51795 AA743724;ABBA01063298;ABBA01063299;ABBA01063300;ABBA01063301;ABBA01063302;ABBA01063303;ABBA01063304;ABBA01063305;ABBA01063306;ABBA01063307;ABBA01063308;ABBA01063309;ABBA01063310;ABBA01063311;ABBA01063312;ABBA01063313;ABBA01063314;ABBA01063315;ABBA01063316;ABBA01063317;ABBA01063318;ABBA01063319;AC231645;AC236430;AF222686;AK021494;AK025562;AK056560;AK092049;AK290940;AK308089;AL663118;AMYH01022321;AMYH01022322;AMYH01022323;AMYH01022324;AMYH01022325;AMYH01022326;BC051691;BC130429;BC130431;BF513571;BK000969;BX950885;CH471180;DA652242;FO393402;NG_007159;NM_000084;NM_001127898;NM_001127899;NM_001272102;NR_073607;X81836;X91906 AAI30430;AAI30432;ADR83400;BAF83629;BAG51748;BAG52474;CAA57430;CAA63000;DAA01544;EAW89929;NP_000075;NP_001121370;NP_001121371;NP_001259031;P51795 Hs.166486;Hs.745501 1648491;1648828;1781138;1849406;2112520;2112524;2113220;2130799;2167138;2170940 A007D27;A007H45;DXS7647;DXS8222;DXS9838;DXS9840;DXS9882;STS-X81836;WI-21198;stdJ519N18SP6 CLC5;CLCK2;DENTS;NPHL1;NPHL2;XLRH;XRN;clC-5;hCIC-K2;hClC-K2 H(+)/Cl(-) exchange transporter 5;OTTHUMP00000023279;OTTHUMP00000023280;OTTHUMP00000023281;OTTHUMP00000023282;chloride channel 5;chloride channel protein 5;chloride transporter ClC-5;clC-5;nephrolithiasis 1 (X-linked);voltage-gated chloride ion channel CLCN5 APPROVED protein-coding ENSG00000171365 2023 02053 300008;300009;300554;308990;310468 REVIEWED 6481149 CLDN10-AS1 CLDN10 antisense RNA 1 13 96131698 96186164 - 100874194 ABBA01027187;ABBA01027188;AL139376;AL357061;AL627382;AMYH01005305;BC024972;NR_046533 Hs.569229 APPROVED miscrna ENSG00000223392 39907 PREDICTED 736095 CLCNKB chloride channel, voltage-sensitive Kb The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 1 1 p36 16242834 16256390 + 16370231 16383821 + 1600683;1600684;1300379;1580863;6480464;7240710 16003175;15148291;11102542 8041726;9326936;19226700;19058262;18648499;18094726;17997379;17652939;17622951;17510212;17143181;17137217;16902263;16849430;16391491;16344560;15671602;15531551;15044642;14702039;14675050;14502078;12477932;12472765;11865110;11734858;10906158;8812470;8544406;19913121;20628086;19096086;19807735;20805576;21631963;21644212;21865213;21479528;20467438;23345488;22578033 1188 A8K8H0;P51801;Q5T5Q6 ABBA01004683;ABBA01004684;AK098217;AK292335;AL355994;AMYH01000277;AMYH01000278;BC020873;BC033806;CH471167;DA369686;DA424588;DA623867;DA624942;DA627682;DA628551;DA633177;NG_013079;NM_000085;NM_001165945;S80315;U93879;XM_003960900;Z30644 AAB35898;AAB65149;AAH20873;BAF85024;BAG53595;CAA83121;EAW51764;EAW51765;EAW51766;NP_000076;NP_001159417;P51801;XP_003960949 Hs.352243 1698900 RH103019 CLCKB;ClC-K2;ClC-Kb;MGC24087;hClC-Kb OTTHUMP00000011120;OTTHUMP00000011121;chloride channel Kb;chloride channel protein ClC-Kb;chloride channel, kidney, B APPROVED protein-coding ENSG00000184908 2027 03607 602023;607364;613090 REVIEWED 1343629 CLDN11CL claudin 11 C-terminal like 404198 29648 1313372 CLCN6 chloride channel, voltage-sensitive 6 This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012] 1 1 p36 11788794 11825788 + 11866153 11903201 + 6480464 8543009;9224655;16710414;16344560;15489334;12477932;12370778;12168954;11306429;10500249;10198195;9565675;7584044;19913121;20628086;17534424;19430483;19729601;19898482;20379614;20416077;20466723;21060006;21273288;16751776;21890473 1185 Q5SNW4;Q99427 ABBA01003060;AF009257;AF398930;AK289999;AK294764;AK307098;AL021155;AL953897;AMYH01000258;BC050457;BC117420;BC117424;BC143844;CH471130;D28475;DA229615;DA935587;NG_008766;NM_001256959;NM_001286;NR_046428;R20538;X83378;X96391;X99472;X99473;X99474;X99475 AAB69287;AAI17421;AAI17425;AAN40862;ADR83387;BAA05836;BAF82688;BAG57898;CAA58292;CAA65255;CAA67835;CAA67836;CAA67837;CAA67838;EAW71710;EAW71711;EAW71712;EAW71713;EAW71714;EAW71715;EAW71716;NP_001243888;NP_001277;P51797 Hs.193043 1671979;1681201;1691828;1854249;2160400;2168524;2180107;2181895;2217162;5491487 AL033967;CLCN6_3953;G30984;G34853;MARC_15621-15622:1017176151:1;RH25282;RH44595;RH70928;SHGC-35004;SHGC-74236 CLC-6;KIAA0046 OTTHUMP00000002410;OTTHUMP00000002411;OTTHUMP00000002412;OTTHUMP00000002413;OTTHUMP00000002414;OTTHUMP00000042609;OTTHUMP00000042610;OTTHUMP00000042611;chloride channel 6;chloride channel protein 6;chloride transport protein 6 APPROVED protein-coding ENSG00000011021 2024 04102 602726 REVIEWED 731480 CLCN7 chloride channel, voltage-sensitive 7 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] 16 16 p13 1435345 1465013 - 1494934 1525085 - 1600865;737783;704404;1580863;6480464;7240710 11846422;11207362 19371798;19070589;18755304;18449189;17164308;17081983;16368748;16234969;15692563;15489334;15111300;14702039;14584882;12929941;12522560;12477932;12082624;11741829;21947783;11157797;10084593;9565675;8617505;8573024;8543009;16525474;19288050;19453261;19507210;19543743;19953639;21527911;20424301;19904698;20499337;20830208;16344560;21139048;21890473;20301306;21963094 1186 H0Y2M6;H3BNG8;I3L470;P51798 AA741117;ABBA01030306;AE006467;AF224741;AI684019;AJ001910;AK056551;AK096963;AK122944;AK128285;AK130196;AK291404;AK292136;AK304796;AK315978;AL031600;AL031705;AMYH01007035;BC004946;BC006158;BC012737;BC015235;BC109196;CH471112;DB061109;NG_007567;NM_001114331;NM_001287;U88844;Z67743 AAB48530;AAF34711;AAH04946;AAH06158;AAH12737;AAI09197;AAK61282;ABM87432;ABW03889;BAF84093;BAF84825;BAG51745;BAG53401;BAG53810;BAG54655;BAG65546;BAH14349;CAA05083;CAA91556;EAW85653;EAW85654;EAW85655;NP_001107803;NP_001278;P51798 Hs.459649 1340944;1342026;1698850;2134982;2146001;2146003;7183776 A005U10;D1S2792;D1S486;RH102989;RH12098;RH77853 CLC-7;CLC7;FLJ26686;FLJ39644;FLJ46423;OPTA2;OPTB4;PPP1R63 H(+)/Cl(-) exchange transporter 7;OTTHUMP00000041762;chloride channel 7;chloride channel 7 alpha subunit;chloride channel protein 7;protein phosphatase 1, regulatory subunit 63 APPROVED protein-coding ENSG00000103249 2025 04103 166600;602727;611490 REVIEWED 68651 CLCNKA chloride channel, voltage-sensitive Ka This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36 16221073 16233132 + 16348486 16360545 + 1300296;1300378;1580863;6480464;7240710 9916798;15044642 8041726;18648499;18094726;17652939;17562318;17510212;17081983;16849430;15489334;12477932;11734858;9046241;8812470;8544406;8125298;19913121;20628086;20805576;21248228 1187 P51800 ABBA01004686;ABBA01004687;AI821546;AK225550;AK290814;AK293476;AK293586;AK298285;AL355994;AMYH01000276;BC035373;BC048282;BC053869;CH471167;NG_009359;NM_001042704;NM_001257139;NM_004070;U93878;XM_003960902;Z30643 AAB65148;AAH48282;AAH53869;BAF83503;BAG56967;BAG60545;BAH11540;CAA83120;EAW51763;NP_001036169;NP_001244068;NP_004061;P51800;XP_003960951 Hs.591533 1698900;2106997 CLCNKA_7767;RH103019 CLCK1;ClC-K1;MGC61490;hClC-Ka OTTHUMP00000011118;OTTHUMP00000011119;chloride channel Ka;chloride channel protein ClC-Ka;chloride channel, kidney, A APPROVED protein-coding ENSG00000186510 2026 03608 602024;613090 REVIEWED 68626 CLDN1 claudin 1 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008] 3 3 q28-q29 191506187 191522909 - 190023490 190040235 - 634856;1580863;6480464;6907045;7240710 9892664 15260435;11382769;22588068;9647647;19184060;19077439;19073886;19052094;18949385;18817843;18756604;18711353;18550469;18480547;18337570;18234789;18227718;18211898;18204077;18095941;17970035;17941058;17784784;17644758;17611630;17585317;17440968;17418912;17359339;17325668;17283368;17047970;16253248;16232121;15965503;15820559;15743508;15547692;15521008;15489334;15070779;14515355;12975309;12909588;12736707;12477932;12475568;12231346;12164927;12067061;12021270;11939410;11889141;11689568;11283726;11247307;11071387;10828592;10690502;10601346;10562289;9931503;16697675;22889411;21428935;20490282;18036336;20685314;20871038;21107309;16169070;16344560;18802961;19297469;19414319;19540561;19578981;19661441;19674288;19706201;19706291;19739116;19776133;19881542;19897486;19903817;19924644;19962368;20379614;20478039;20546350;21356207;21233676;20937153;21536752;22719836;21489616;21551950;21624620;23792687;21493012;22941059;21620107;21873169;21480761;21757541;21720707;17091452;21997594;22030598;21909685;22641667;22531683;23449973;23523916;21988832;22897233;22671588;18538010 9076 A5JSJ9;O95832 AA484795;ABBA01058328;AC009520;AF086514;AF101051;AF114837;AF115546;AF134160;AF260403;AF260406;AK296934;AK312866;AMYH01013757;AY358652;BC012471;CH471052;CR457138;DA907275;EF564137;NG_021418;NM_021101 AAD16433;AAD22962;AAF61393;AAH12471;AAK20945;AAP97236;AAQ89015;ABM82383;ABM87822;ABQ42705;BAG35718;BAG59485;CAG33419;EAW78107;EAW78108;NP_066924;O95832 Hs.439060 1340874;1667306;1711948;1795572;2147318;2168093;2168095;7186530 A001W08;CLDN1_530;D3S1601;G19705;G30141;G49585;WI-19957 CLD1;ILVASC;SEMP1 OTTHUMP00000209498;claudin-1;senescence-associated epithelial membrane protein 1 APPROVED protein-coding ENSG00000163347 2032 04760 603718;607626 REVIEWED 1317558 CLDN10 claudin 10 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010] 13 13 13 q31-q34 76933662 77079797 + 94883859 95029907 + 96085853 96232010 + 1580863;6480464;6907045 12067061;11991713;11283726;11247307;10690502;10508613;19383724;18025272;16344560;15701840;15489334;14702039;12477932;12475568;12231346;18036336;19706201;19924644;20379614;21370593;21103663;23284715;21647678;22076167 9071 P78369;Q5W075;Q6IBF9 ABBA01027186;ABBA01027187;ABBA01027188;ABBA01027189;AF339794;AK055855;AK315737;AL139376;AL357061;AL627382;AMYH01005304;AMYH01005305;BC010920;BG697724;BU930613;CH471085;CR456845;DA133712;DA636757;DB544708;NM_001160100;NM_006984;NM_182848;U89916 AAC79506;AAH10920;ABM83757;ABM87076;BAB71030;BAG38092;CAG33126;EAX08955;NP_001153572;NP_008915;NP_878268;P78369 Hs.534377 1335122;1336033;1340597;1700448;1736342;1772471;1779660;1782846;2150142;2152459;2173208;2217164;5022753;5094322 CLDN10;CLDN10_2929;D13S1156;D13S1278;D13S627;D13S846E;D9S1832;G54710;RH103845;RH13730;RH71267;SHGC-142196;SHGC-153634;SHGC-4019 CPETRL3;OSP-L OSP-like protein;OTTHUMP00000018561;OTTHUMP00000018562;claudin-10 APPROVED protein-coding ENSG00000134873 2033 13063 REVIEWED 1319353 CLDN14 claudin 14 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010] 21 21 q22.3 36754789 36774258 - 37832919 37948867 - 1600866;1600867;1580863;6480464;6907045;7240710 17383680 7644498;16780588;19254696;15880785;15769849;15489334;12975309;12791041;12477932;12475568;12231346;11283726;11247307;11163249;10830953;10690502;18036336;19561606;19706201;20379614;22246673;20811388;20494980;23590985;23166209;23235333;23322640 23562 O95500 ABBA01057397;ABBA01057398;ABBA01057399;ABBA01057400;AF314090;AI655909;AJ132445;AJ566765;AJ566766;AMYH01012226;AMYH01012227;AP000695;AP000696;AP001726;AY355348;AY355349;AY358533;BC012126;CH471079;NG_011777;NM_001146077;NM_001146078;NM_001146079;NM_012130;NM_144492 AAG60052;AAH12126;AAQ88897;AAR05858;AAR05859;ABM83144;ABM83172;ABM86340;BAA95509;CAA10669;CAD97762;CAD97763;EAX09740;NP_001139549;NP_001139550;NP_001139551;NP_036262;NP_652763;O95500 Hs.660278;Hs.741857 1655803;1664668;1708558;1715441;1731389;1774659;1777396;2117333;2181133 AFM205WB4;D21S1222;G34613;G34616;RH120859;SHGC-51934;SHGC-51960;SHGC-85062;SHGC-9548 DFNB29 OTTHUMP00000109045;OTTHUMP00000109046;OTTHUMP00000109047;OTTHUMP00000109048;OTTHUMP00000109049;claudin-14 APPROVED protein-coding ENSG00000159261 2035 05727 605608;614035 REVIEWED 732844 CLDN11 claudin 11 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010] 3 3 q26.2-q26.3 171619359 171634581 + 170136653 170152479 + 1580863;6480464;6907045 18412169;15489334;12730962;12477932;12475568;12231346;11591653;11309411;11283726;11247307;10797530;10700007;10690502;10612400;10582615;8797478;8661061;20546350;16344560;19241088;19622796;19706201;19956721;18036336;20850723;22951003;21468549;21743467;22736761 5010 B4DFI2;O75508 ABBA01058678;ABBA01058679;AC008041;AF085871;AJ245901;AJ245902;AK294087;AK312923;AMYH01013644;BC013577;BT019402;BT019403;CH471052;DA258090;DC328248;NM_001185056;NM_005602 AAH13577;AAV38209;AAV38210;ABM81906;ABM85079;BAG35768;BAG57428;CAB55487;EAW78505;EAW78506;EAW78508;EAW78509;NP_001171985;NP_005593;O75508 Hs.31595 1675792;1856043 RH93414;SHGC-77525 OSP;OTM OTTHUMP00000213590;claudin-11;oligodendrocyte transmembrane protein;oligodendrocyte-specific protein APPROVED protein-coding 8514 03207 601326 REVIEWED 1314174 CLDN12 claudin 12 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in the inner ear and bladder epithelium, and it is over-expressed in colorectal carcinomas. This protein and claudin 2 are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, Sep 2011] 7 7 7 q21 84736780 84749336 + 89870732 89883204 + 90032648 90045268 + 1580863;6480464 18287530;17047970;16381901;15489336;15489334;15068973;14698084;12853948;12690205;12477932;12475568;12231346;12067061;11912246;11585919;11283726;11247307;11230166;11076863;10690502;16169070;18036336;16344560;17567994;19706201;19924644;21139048;21906983;19322201 9069 A8MX62;B2R687;C9J4P0;C9J841;P56749 AACC02000015;ABBA01045838;AC006153;AJ250713;AK312480;AL136770;AMYH01017681;BC036754;BC068532;CH236949;CH471091;CR533470;DA121583;DA230901;DA330572;DB062973;DB224591;NM_001185072;NM_001185073;NM_012129 AAH36754;AAH68532;AAP22363;BAG35384;CAB60617;CAB66704;CAG38501;CAL37593;EAL24163;EAW76876;EAW76877;NP_001172001;NP_001172002;NP_036261;P56749 Hs.731917 1799148;1799402;1799592;1801938;1802306;1811156;1812386;1833202;1834634;1835368;1836478;1837706;1838366;1840726;1843978;1845156;1845500;2071758;2071760;2071762;2071764;2071766;2071768;2071770;2071772;2071774;2071776;2071778;2071780;2071782;2071784;2071786;2071788;2071790;2071792;2071794;2071796;2071798;2071800;2071802;2071804;2071806;2071808;2071810;2071812;2071814;2071816;2071818;2071820;2071822;2071824;2071826;2071828;2071830;2071832;2071834;2071836;2071838;2071840;2071842;2071844;2071846;2071848;2071850;2071852;2071854;2071856;2071858;2071860;2071862;2071864;2071866;2071868;2071870;2071872;2071874;2071876;2071878;2071880;2071882;2071884;2071886;2071888;2071890;2071892;2135568;2144595;2194254;2194256;2194258;2194260;2194262;2194264;2194266;2194268;2194270;2194272;2194274 ECD00420;ECD00552;ECD00648;ECD01850;ECD02037;ECD06576;ECD07200;ECD17743;ECD18465;ECD18839;ECD19402;ECD20021;ECD20357;ECD21554;ECD23201;ECD23795;ECD23968;REN107072;REN107073;REN107074;REN107075;REN107076;REN107077;REN107078;REN107079;REN107080;REN107081;REN107082;REN107083;REN107084;REN107085;REN107086;REN107087;REN107088;REN107089;REN107090;REN107091;REN107092;REN107093;REN107094;REN107095;REN107096;REN107097;REN107098;REN107099;REN107100;REN107101;REN107102;REN107103;REN107104;REN107105;REN107106;REN107107;REN107108;REN107109;REN107110;REN107111;REN107112;REN107113;REN107114;REN107115;REN107116;REN107117;REN107118;REN107119;REN107120;REN107121;REN107122;REN107123;REN107124;REN107125;REN107126;REN107127;REN107128;REN107129;REN107130;REN107131;REN107132;REN107133;REN107134;REN107135;REN107136;REN107137;REN107138;REN107139;RH47948;RH65832;stSG614593;stSG614595;stSG614596;stSG614597;stSG614598;stSG614599;stSG614600;stSG614601;stSG614602;stSG614603;stSG614604 OTTHUMP00000024518;OTTHUMP00000067944;OTTHUMP00000067945;OTTHUMP00000082755;OTTHUMP00000196958;OTTHUMP00000196959;OTTHUMP00000212898;claudin-12 APPROVED protein-coding ENSG00000157224 2034 13064 611232 REVIEWED 1321720 CLDN15 claudin 15 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010] 7 7 7 q11.22 95884531 95891259 - 100662094 100667836 - 100875373 100882101 - 1580863;6480464;6907045 14702039;13129853;12477932;12475568;12231346;12055082;11912246;11283726;11247307;11095601;10690502;16344560;16798613;19420749;19673046;19706201;18036336;21988832;23166209 24146 C9J3Z2;C9JHQ4;H7C2D7;P56746 AA514265;ABBA01011340;AC006329;AJ245738;AK056103;AK124705;AMYH01017751;BC010160;CH471197;DB158141;DN999248;NM_001185080;NM_014343 AAH10160;ADZ15669;BAG51627;CAB52587;EAW50210;EAW50211;NP_001172009;NP_055158;P56746 Hs.38738 1697442;2124032 RH102222;WI-11506 FLJ42715;MGC19536 OTTHUMP00000197704;OTTHUMP00000197705;OTTHUMP00000211472;OTTHUMP00000211473;claudin-15 APPROVED protein-coding ENSG00000106404 2036 13065 REVIEWED 1351425 CLDN18 claudin 18 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010] 3 3 q22.3 139200348 139235184 + 137717658 137752494 + 1580863;6480464;6907045 19047087;18831034;18580680;18223320;18032479;17932229;17459057;16341674;12975309;12477932;12475568;12231346;11585919;11283726;11247307;10690502;18036336;20846265;19706201;21206985;21381080;21607649;21832145;22076167 51208 F8WEY4;P56856 ABBA01059097;AC016252;AF221069;AF349452;AK098474;AK298103;AMYH01013531;AY102073;AY358479;BC063845;BC142708;BC146668;BM785703;CH471052;NM_001002026;NM_016369 AAF26448;AAI42709;AAI46669;AAL15637;AAQ88843;BAG60388;EAW79092;EAW79093;EAW79094;NP_001002026;NP_057453;P56856 Hs.655324 1648449;2107937 CLDN18_8037;RH18207 DKFZp564B2062;SFTA5;SFTPJ OTTHUMP00000216399;OTTHUMP00000216400;claudin-18;surfactant associated 5;surfactant associated protein J;surfactant, pulmonary associated protein J APPROVED protein-coding ENSG00000066405 2039 13066 609210 VALIDATED 1316669 CLDN17 claudin 17 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and is clustered with CLDN8 on chromosome 21q22.11. [provided by RefSeq, Jun 2010] 21 21 21 q22.11 16721375 16722105 - 30460132 30460806 - 31538241 31538971 - 1580863;6480464;6907045 22889411;16780588;15489334;12975309;12736707;12477932;12475568;12231346;12067061;11283726;11247307;10830953;10690502;19706201;20339536;18036336 26285 P56750 ABBA01057268;AJ250712;AMYH01012188;AP000884;AP001707;AY358094;BC101503;BC101505;CH471079;NM_012131 AAI01504;AAI01506;AAQ88461;BAA95566;CAB60616;EAX09904;NP_036263;P56750 Hs.258589 1795570;5493501 CLDN17_1504;UniSTS:486937 MGC126552;MGC126554 OTTHUMP00000101916;claudin-17;human CLDN17 gene for claudin-17 APPROVED protein-coding ENSG00000156282 2038 10833 REVIEWED 1351544 CLDN16 claudin 16 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010] 3 3 q28 191588535 191611027 + 190105661 190129932 + 1599615;1599616;1580863;6480464;6907045;7240710 10390358;16959063 19082451;18816383;18442037;18003771;17551748;16924549;16528408;16234325;15489334;14628289;12477932;12475568;12231346;11518780;11283726;11247307;10878661;10690502;668721;20664984;12736707;19165416;19695239;19706201;8889548;17207965;18036336;20511716;21186073;21832049;21848011;21717372;21669885;22422540 10686 A0SDD8;Q9Y5I7 ABBA01058328;AC009520;AF152101;AK314955;AMYH01013757;BC069662;BC069682;BC069759;BC069777;BF034334;CB241927;CH471052;DQ305102;NG_008149;NM_006580 AAD43096;AAH69662;AAH69682;AAH69759;AAH69777;ABC47832;ADQ32906;EAW78106;NP_006571;Q9Y5I7 Hs.251391 1797406;2117904;5037552 CLDN16_1935;D8S2279;SHGC-33716 HOMG3;PCLN1 OTTHUMP00000209499;PCLN-1;claudin-16;hypomagnesemia 3, with hypercalciuria and nephrocalcinosis;paracellin-1 APPROVED protein-coding ENSG00000113946 2037 04906 248250;603959 REVIEWED 1349320 CLDN22 claudin 22 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. [provided by RefSeq, Aug 2010] 4 4 4 q35.1 181573166 181575874 - 184473564 184478921 - 184239220 184241927 - 1580863;6480464;6907045 15815621;14702039;12736707;12475568;12231346;11283726;11247307;10690502;19706201;18036336 53842 Q8N7P3 ABBA01070498;AC093844;AK098064;AK303864;AMYH01014761;CH471056;NM_001111319 BAG64803;EAX04693;NP_001104789;Q8N7P3 Hs.333179;Hs.712634 2129932;2136327 RH36596;SHGC-59360 CLDN21;FLJ51450 OTTHUMP00000218623;claudin-22 APPROVED protein-coding ENSG00000177300 2044 REVIEWED 3378218 CLDN24 claudin 24 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[provided by RefSeq, Aug 2010] 4 4 4 q35.1 181576864 181577526 - 184479911 184480573 - 184242917 184243579 - 12736707;15815621;19706201;18036336;10690502;11247307;11283726;12231346;12475568 100132463 A6NM45;D6RBY1 ABBA01070498;AC093844;AMYH01014761;NM_001185149 A6NM45;NP_001172078 Hs.727475 CLDN21 OTTHUMP00000218625;claudin 21;claudin-24-like;putative claudin-24 APPROVED protein-coding ENSG00000185758 37200 VALIDATED 3436494 CLDN25 claudin 25 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010] 11 11 11 q23.2 110803400 110804089 + 113155728 113156417 + 113650518 113651207 + 6480464 18036336;11181995;12736707;19706201 644672 C9JDP6 ABBA01039782;AMYH01004039;AP003170;CH471065;NM_001101389 C9JDP6;EAW67230;NP_001094859 Hs.705360 OTTHUMP00000238251;claudin 25;claudin-like;hCG1646420;putative claudin-25 APPROVED protein-coding ENSG00000228607 37218 PROVISIONAL 1312766 CLDN19 claudin 19 The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] 1 1 1 p34.2 41480694 41487855 - 42971351 42978512 - 43198764 43205925 - 1580863;6480464;6907045;7240710 16427635;17033971;15489334;14702039;12477932;12475568;12231346;11283726;11247307;10690502;8889548;18036336;19706201;21030577;22734304;22422540;23538362 149461 Q8N6F1 ABBA01050974;AC098484;AF497644;AK056118;AK096063;AK291197;AK298992;AMYH01000553;BC030524;BM681600;CH471059;CS223385;NG_008993;NM_001123395;NM_001185117;NM_148960 AAH30524;AAQ07256;BAC04691;BAF83886;BAH12918;CAJ46932;EAX07146;EAX07147;NP_001116867;NP_001172046;NP_683763;Q8N6F1 Hs.496270 HOMG5 OTTHUMP00000008733;OTTHUMP00000008734;claudin-19 APPROVED protein-coding ENSG00000164007 2040 10834 248190;610036 REVIEWED 1352349 CLDN2 claudin 2 This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010] X X q22.3-q23 106050290 106060747 + 106143394 106174091 + 634856;1580863;6480464;6907045 9892664 16189514;12475568;19120888;19082451;18942115;18711353;18602630;18509255;18500171;18366005;18287530;18198187;17970035;17640674;17418912;17314274;17283368;17103306;16328347;16303743;15772651;15498874;15489334;15389642;15070779;14751232;12975309;12700140;12477932;22889411;12231346;11934881;11283726;11247307;10690502;10601346;9647647;18036336;20700059;16344560;19214581;20133805;20143085;20204275;21076473;23143602;22927233;21383692;21688348;22731716;22946653;22546605;18538010 9075 P57739 AA973123;ABBA01035833;ABBA01035834;ABBA01035835;ABBA01035836;ABBA01035837;ABBA01035838;AF177340;AF250558;AK075371;AK075405;AK312515;AL158821;AL591849;AMYH01022826;AY358474;BC014424;BC071747;CH471120;CS051165;DA743944;FB746672;NG_016445;NM_001171092;NM_001171095;NM_020384 AAF98151;AAG17984;AAH14424;AAH71747;AAQ88838;ABM83142;ABM86338;BAC11575;BAG35416;BAG52130;CAI72078;CAT04641;EAX02730;EAX02731;EAX02732;NP_001164563;NP_001164566;NP_065117;P57739 Hs.522746 1797408;2172079;5024908 CLDN2;CLDN2_2269;SGC38161 SP82 OTTHUMP00000023793;SP82;claudin-2 APPROVED protein-coding ENSG00000165376 2041 06471 300520 REVIEWED 1343820 CLDN20 claudin 20 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. [provided by RefSeq, Jun 2010] 6 6 6 q25 156319443 156331976 + 155626839 155639374 + 155585147 155597682 + 1580863;6480464;6907045 16836752;15489334;14574404;12477932;12475568;12231346;11283726;11247307;10690502;1124737;17207965;19706201;17679949;18036336;18480174;21832049 49861 P56880 ABBA01025583;ABBA01025584;AL139101;AMYH01016765;BC020838;CH471051;NG_027528;NM_001001346 AAH20838;ADQ32197;EAW47691;NP_001001346;P56880 Hs.567491 1769574 RH65775 OTTHUMP00000017474;claudin-20 APPROVED protein-coding ENSG00000171217 2042 13067 REVIEWED 68632 CLDN3 claudin 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008] 7 7 q11.23 72821263 72822512 - 73183327 73184600 - 634856;1580863;6480464;6907045 9892664 9334247;15174142;19231096;19208807;19184060;19137073;19082451;18817843;18774778;18550469;18477216;18439941;18384777;18313739;18251778;17986852;17647191;17545541;17459057;17418912;17326053;17103306;16627685;16341674;16287068;16253248;15905176;15743508;15489334;15240533;15070779;12909588;12853948;12736707;12477932;12475568;12231346;11691807;11382769;11283726;11247307;10690502;10601346;10562289;9441748;16169070;19429681;19525861;19706201;19924644;20053926;20143085;20204275;20478039;18036336;20466674;22087225;20655293;21184237;21832049;21519794;21139048;22128179;22290341;23053666;23097631;18329007;18538010 1365 O15551;Q75L79 AB000714;ABBA01063939;AC093168;AF007189;AK313276;AMYH01017538;BC009083;BC016056;BM764277;CH471200;CQ947188;NG_012023;NM_001306 AAC78277;AAH16056;AAS07555;ABM83137;ABW03471;BAA22986;BAG36084;CAI29151;EAW69641;NP_001297;O15551 Hs.647023 1676460;1790445;1795574;5492066 CLDN3_194;Cldn3;D7S3297;RH93920 C7orf1;CPE-R2;CPETR2;HRVP1;RVP1 CPE-R 2;CPE-receptor 2;Clostridium perfringens enterotoxin receptor 2;OTTHUMP00000160506;claudin-3;ventral prostate.1 protein homolog;ventral prostate.1-like protein APPROVED protein-coding ENSG00000165215 2045 04219 602910 REVIEWED 1317413 CLDN4 claudin 4 This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Jul 2008] 7 7 q11.23 72883129 72884951 + 73245193 73247015 + 634856;1580863;2317580;2317600;2317583;2317592;2317602;6480464;6907045 9892664;19793693;17375208;19555390;15693851;16143882 16714763;9334247;19447895;19390931;19374770;19231096;19184060;19142967;19120888;19082451;18954444;18786529;18752049;18648369;18550469;18477216;18384777;18313739;18283635;18251778;17962811;17709988;17678893;17651017;17545541;17459057;17418912;17359339;17326053;16969486;16949040;16439986;16287068;16253248;16236711;15862967;15743508;15643498;15489334;15366421;15070779;14702039;14559813;12853948;12736707;12700140;12477932;12475568;12231346;11283726;11247307;10690502;10601346;9878248;9087440;19035134;21102412;21508375;18036336;16341674;20175704;20466674;20070312;19180924;19619303;19657234;19661441;19706201;19884339;19903817;19924644;20053926;20086175;20163034;20204275;20478039;21206985;20839069;21339813;21493012;22128179;22668877;21683675;21968969;22286027;23095775;22883527;22898551;23053666;23097631;23596113;23668053;23521713;18538010 1364 O14493;Q75L80 AB000712;ABBA01063937;AC093168;AK026651;AK124076;AK126315;AK126462;AMYH01017538;BC000671;BM768799;BT006989;CH471200;CQ947190;NG_012868;NM_001305 AAH00671;AAP35635;AAS07556;ACE86446;ACE87122;BAA22984;BAG54000;BAG54307;BAG54330;CAI29152;EAW69639;NP_001296;O14493 Hs.647036;Hs.729359 1725585;1790443;1795576;1854079;5017266;5037552 A007I02;CLDN4_196;D7S3296;D8S2279;G62015;L18506 CPE-R;CPER;CPETR;CPETR1;WBSCR8;hCPE-R CPE-receptor;Clostridium perfringens enterotoxin receptor 1;OTTHUMP00000160507;OTTHUMP00000211778;Williams-Beuren syndrome chromosomal region 8 protein;claudin-4 APPROVED protein-coding ENSG00000189143 2046 04218 602909 REVIEWED 1319100 CLDN23 claudin 23 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010] 8 8 8 p23.1 7687957 7689908 + 8597076 8599027 + 8559666 8561617 + 1580863;6480464;6907045 18154640;15489334;12736707;12477932;11181995;8895530;16273224;18036336;19673046;19706201;23251661 137075 Q6ZW63;Q96B33 ABBA01026917;AC087269;AK123547;AMYH01018464;BC016047;BC125148;BC125149;CH471157;NM_194284;Z36835 AAI25149;AAI25150;BAC85642;EAW65564;NP_919260;Q96B33 Hs.183617 2179202;2180643;5492871 RH12660;RH67977;UniSTS:483094 CLDNL;hCG1646163 2310014B08Rik;OTTHUMP00000224518;claudin-23 APPROVED protein-coding ENSG00000253958 17591 13069 609203 REVIEWED 68644 CLDN5 claudin 5 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2008] 22 22 q11.21 17890550 17892860 - 19510547 19512860 - 1358511;1580863;6480464;6907045 15363474 22333621;9192844;19538285;19231096;19194274;19168871;18817843;18797402;18604199;18513742;18065521;17765294;17761522;17585317;17103306;16959372;16514648;16344560;16181776;16158492;15820333;15617864;15489334;15461802;15260435;14702039;14515355;12909588;12743111;12734665;12477932;12475568;12403818;12231346;11944085;11283726;11247307;10690502;10601346;9892664;9441748;8889548;8125298;16697675;19706201;19924644;20044634;20452046;20478039;18036336;20525806;21168935;22559840;21772312;21959309;22002662;21857898;22235125;22389112;22038628;23288152;23115643;23465821;18003888;18329007;18941231;21641584;21717370;22448134;22591361;22700861;23000880 7122 D3DX19;O00501 ABBA01005411;AC000082;AF000959;AK092561;AK124019;AK222466;AMYH01012479;BC002404;BC019290;BC032363;BT007254;BU688528;CB993999;CH471176;CR456420;DB023636;NM_001130861;NM_003277 AAC51364;AAH02404;AAH19290;AAH32363;AAP35918;BAD96186;BAG52573;CAG30306;CAK54412;CAK54711;EAX03034;EAX03035;NP_001124333;NP_003268;O00501 Hs.505337 1795578;2112504;2132653;2171211 A006E34;CLDN5_64;D22S1668;D22S983E AWAL;BEC1;CPETRL1;TMVCF OTTHUMP00000197373;OTTHUMP00000197819;TMDVCF;androgen withdrawal and apoptosis induced protein RVP1-like;claudin 5;claudin-5;transmembrane protein deleted in VCFS;transmembrane protein deleted in velocardiofacial syndrome APPROVED protein-coding ENSG00000184113 2047 03654 602101 REVIEWED 1318839 CLDN6 claudin 6 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. This gene encodes a component of tight junction strands, which is a member of the claudin family. The protein is an integral membrane protein and is one of the entry cofactors for hepatitis C virus. The gene methylation may be involved in esophageal tumorigenesis. This gene is adjacent to another family member CLDN9 on chromosome 16.[provided by RefSeq, Aug 2010] 16 16 p13.3 3004714 3008189 - 3064713 3068188 - 634856;1580863;6480464;6907045 9892664 10690502;19288010;18234789;17804490;16303743;15541721;15489334;15454572;15366020;15146197;12975309;12896909;12749857;12736707;12477932;12475568;12231346;12110008;12060405;11923212;11912246;11668606;11283726;11247307;10601346;10508865;19220299;18036336;20874001;19706201;19773279;19960275;20118769;20215972;20367941;20388399;21989342;22455563;22925655 9074 I3L1E7;P56747 ABBA01026725;AC108134;AF125306;AJ249735;AK075329;AMYH01007088;AY358480;BC008934;BT007399;BX444798;CH471112;CN420342;CS051119;NM_021195 AAH08934;AAK02013;AAP36063;AAQ88844;BAG52111;CAB56533;CAI72055;EAW85431;EAW85432;NP_067018;P56747 Hs.533779 1795580 CLDN6_1604 OTTHUMP00000159248;claudin-6;skullin APPROVED protein-coding ENSG00000184697 2048 13070 REVIEWED 68646 CLDN7 claudin 7 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] 17 17 7103946 7106519 - 7163222 7166512 - 634856;1580863;6480464;6907045 9892664 19231096;19194274;19120888;18981000;18802961;18799195;18667601;18560860;18550469;18519685;18439941;18357381;18349130;18298564;17962811;17922590;17611659;17579117;17418912;17103306;17060315;16341674;16189514;16054130;16049341;15790437;15489334;15475928;14502431;12742348;12673207;12477932;12475568;12231346;11283726;11247307;10690502;10601346;9441748;8125298;16368003;18036336;20926780;20874001;19661441;19706201;19924644;19960275;20204275;20478039;21184237;21310043;22087225;21083599;21193919;21645451;21641901;22941467;21789222;21480761;21906983;21956537;22318606;21988832;23146509 1366 F5H496;I3L3L6;I3L3X1;K7EL87;K7EP40;O95471 ABBA01054856;AC003688;AF093823;AJ011497;AK225418;AK313958;AMYH01008075;BC001055;BC071844;BM818537;BT006829;CH471108;CV575841;NM_001185022;NM_001185023;NM_001307 AAH01055;AAH71844;AAP35475;AAP97219;BAG36674;CAA09626;EAW90228;EAW90229;NP_001171951;NP_001171952;NP_001298;O95471 Hs.513915 1649617;1712296;1768073;1768075;2165439 D17S2159;G54057;RH12882;RH47392;WIAF-2127 CEPTRL2;CLDN-7;CPETRL2;Hs.84359;claudin-1 OTTHUMP00000128374;claudin-7;clostridium perfringens enterotoxin receptor-like 2 APPROVED protein-coding ENSG00000181885 2049 07633 609131 REVIEWED 1319096 CLDN9 claudin 9 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010] 16 16 16 p13.3 3268017 3270066 + 3002207 3004507 + 3062457 3064506 + 1580863;6480464;6907045 18234789;17804490;15489334;14702039;14698084;12742348;12736707;12477932;12475568;12231346;11912246;11283726;11247307;11095601;10690502;9441748;18036336;20874001;19696885;19706201;19773279;19960275 9080 O95484;Q6TPI7 ABBA01026725;AC004643;AC108134;AI791760;AJ130941;AK091002;AMYH01007088;AY390431;BC051870;BC065830;CD105948;CH471112;CQ947192;NM_020982 AAH51870;AAH65830;AAQ97597;CAA10254;CAI29153;EAW85433;NP_066192;O95484 Hs.296949 2108729 CLDN9_3192.2 OTTHUMP00000159249;claudin-9 APPROVED protein-coding ENSG00000213937 2051 13071 REVIEWED 1318427 CLDN8 claudin 8 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein plays important roles in the paracellular cation barrier of the distal renal tubule, and in the paracellular barrier to prevent sodium back-leakage in distal colon. Differential expression of this gene has been observed in colorectal carcinoma and renal cell tumors, and along with claudin-7, is an immunohistochemical marker for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma.[provided by RefSeq, May 2010] 21 21 q22.11 30508201 30510189 - 31586324 31588469 - 634856;1580863;6480464;6907045 9892664 16780588;19302533;19000657;18799195;17047970;15489334;14702039;12975309;12736707;12477932;12475568;12231346;12067061;11283726;11247307;10830953;10690502;10601346;8125298;18036336;20339536;16344560;19706201;19924644;23322640 9073 P56748 ABBA01057268;AJ250711;AK022269;AK223512;AL049977;AMYH01012189;AP000884;AP001707;AW235670;AY358707;BC020866;BC058004;CH471079;CS072416;DA629490;NM_199328 AAH20866;AAH58004;AAQ89070;ABM82928;ABM86118;BAA95567;BAD97232;BAG51070;CAB60615;CAI93554;EAX09901;EAX09902;NP_955360;P56748 Hs.162209 1795582 CLDN8_532 OTTHUMP00000101915;claudin-8 APPROVED protein-coding ENSG00000156284 2050 10835 611231 REVIEWED 1604242 CLDND2 claudin domain containing 2 19 19 19 q13.41 48921434 48923339 - 56562164 56564069 - 51870352 51872257 - 6480464 15489334;12477932 125875 M0R1J6;Q8NHS1 ABBA01068274;AC008750;AMYH01009952;BC029518;CH471135;NM_152353 AAH29518;ABM81894;ABM85068;EAW72005;NP_689566;Q8NHS1 Hs.720536 MGC33839 claudin domain-containing protein 2 protein-coding ENSG00000160318 28511 14574 VALIDATED 1349033 CLDND1 claudin domain containing 1 3 3 3 q12.1 96625975 96633568 - 99717007 99724600 - 98234317 98241910 - 6480464 17316888;16303743;15489334;12975309;12477932;12036590;11042152;10022985;17207965;21139048;21890473;21906983 56650 D6R9K1;D6R9S8;D6RA76;D6RAZ7;D6RB31;D6RC11;D6RCE6;D6RCP3;D6RCR8;D6RD48;D6RDI6;D6RDP6;D6RDY1;D6RFX6;D6RHU6;D6RIU2;H0Y8T9;H0YA53;J3KQ67;Q9Y4S9 AA811441;ABBA01026929;AC021660;AF161522;AJ270952;AK075367;AL080097;AMYH01013351;AW449183;AY359121;BC001757;BC013610;BC022551;BC095441;BF967477;BI552824;BU784186;CD520771;CH471052;DB461184;DB465920;EB386420;NM_001040181;NM_001040182;NM_001040183;NM_001040199;NM_001040200;NM_019895 AAF29137;AAH01757;AAH13610;AAH22551;AAH95441;AAQ89479;ADQ31645;BAG52123;CAB45709;CAB89684;EAW79856;EAW79857;EAW79858;EAW79859;EAW79860;NP_001035271;NP_001035272;NP_001035273;NP_001035289;NP_001035290;NP_063948;Q9NY35 Hs.531371;Hs.720106 1671195;1735286;2178458 D3S2932E;D3S3109;STS-AA040168 C3orf4;GENX-3745;MGC111162;MGC3316;MGC9861 OTTHUMP00000217406;OTTHUMP00000217407;OTTHUMP00000217408;OTTHUMP00000217422;OTTHUMP00000217423;OTTHUMP00000217424;OTTHUMP00000217562;OTTHUMP00000217563;OTTHUMP00000217584;OTTHUMP00000217585;OTTHUMP00000217586;OTTHUMP00000217587;OTTHUMP00000217588;OTTHUMP00000217609;OTTHUMP00000217610;OTTHUMP00000217611;OTTHUMP00000217622;OTTHUMP00000217623;OTTHUMP00000217625;OTTHUMP00000217626;OTTHUMP00000217627;OTTHUMP00000217628;OTTHUMP00000217638;chromosome 3 open reading frame 4;claudin domain containing 1 protein;claudin domain-containing protein 1;membrane protein GENX-3745 protein-coding ENSG00000080822 1322 12822 VALIDATED 1605851 CLEC12A C-type lectin domain family 12, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011] 12 12 p13.2 10015281 10029461 + 10103915 10138194 + 6480464 14739280;10508765;19494282;18350551;17609428;16838277;16239426;15548716;15238421;12945048;12477932;22341585;21677141 160364 A8MVL9;Q5QGZ9 ABBA01067795;ABBA01067796;AC091814;AF247788;AK314001;AMYH01004275;AMYH01004276;AY426759;AY498550;AY498551;AY498552;AY547296;BC027967;BC063424;BC126289;BC126291;BE242761;BQ017053;CD642076;CH471094;CQ976593;HI565710;NG_029426;NM_001207010;NM_138337;NM_201623 AAH63424;AAI26290;AAI26292;AAL95693;AAR84594;AAS00605;AAS00606;AAS00607;AAT11783;BAG36713;CAI45358;CBX47387;EAW96132;EAW96133;NP_001193939;NP_612210;NP_963917;Q5QGZ9 Hs.190519 1710304 SHGC-85259 CLL-1;CLL1;DCAL-2;MGC70602;MICL C-type lectin domain family 12 member A;C-type lectin protein CLL-1;C-type lectin superfamily;C-type lectin-like molecule 1;C-type lectin-like molecule-1;OTTHUMP00000238683;OTTHUMP00000238684;OTTHUMP00000238686;OTTHUMP00000238691;dendritic cell associated lectin 2;dendritic cell-associated lectin 2;myeloid inhibitory C-type lectin-like receptor APPROVED protein-coding ENSG00000172322 31713 14719 612088 REVIEWED 1605796 CLEC12B C-type lectin domain family 12, member B 12 12 12 p13.2 15324608 15332776 + 10054498 10061814 + 10163231 10171399 + 6480464 17562706;12975309;12477932 387837 F5H4H7;Q2HXU8 ABBA01067796;AC024224;AI655492;AK128243;AK131027;AMYH01004276;AY358810;BC036036;BC136805;BC136806;CH471094;DQ368812;NM_001129998;NM_205852 AAI36806;AAI36807;AAQ89170;ABC96323;ADR82900;BAC87350;EAW96135;EAW96136;EAW96137;EAW96138;NP_001123470;NP_995324;Q2HXU8 Hs.127937 UNQ5782 C-type lectin domain family 12 member B;OTTHUMP00000238692;OTTHUMP00000238693;OTTHUMP00000238701;macrophage antigen h protein-coding ENSG00000256660 31966 18266 VALIDATED 1603407 CLEC10A C-type lectin domain family 10, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7003370 7009114 - 6918580 6924324 - 6977856 6983600 - 6480464 8598452;15489334;12477932;8889548;19776380;19834553;20237496;22531918;23275449 10462 I3NI09;J3KR22;Q8IUN9 ABBA01054847;ABBA01054848;AC120057;AK291975;AK292363;AL546075;AMYH01008067;BC027858;BC039011;BI910082;BM974488;BU687211;CH471108;D50532;NG_029878;NM_006344;NM_182906 AAH27858;AAH39011;BAA09101;BAF84664;BAF85052;EAW90265;EAW90266;EAW90267;NP_006335;NP_878910;Q8IUN9 Hs.54403 1797410 CLECSF14_2594 CD301;CLECSF13;CLECSF14;HML;HML2;MGL C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13 (macrophage-derived);C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived);C-type lectin domain family 10 member A;C-type lectin superfamily member 14;macrophage C-type lectin;macrophage lectin 2 (calcium dependent) APPROVED protein-coding ENSG00000132514 16916 12076 605999 REVIEWED 1604062 CLEC11A C-type lectin domain family 11, member A This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.3 55918417 55920793 + 51226605 51228981 + 6480464 11920266;9705843;9442024;19416273;15489334;15234225;14746805;12900775;12477932;11803813;10807776;10198175;9207134;3304620;19528216;19884328;17207965;21943129;18029348;21890473 6320 M0R081;Q9Y240 AB009244;ABBA01068304;AC010325;AF020044;AF087658;AK314141;AMYH01009944;AY870345;BC005810;BQ014793;BT019673;BU615665;CH471135;D86586;FB659836;NM_002975 AAC39569;AAD26533;AAH05810;AAV38479;AAX62798;ADQ32647;BAA21499;BAA32404;BAG36831;CAS01773;EAW71895;EAW71896;EAW71897;NP_002966;Q9Y240 Hs.512680 1687582 RH79959 CLECSF3;LSLCL;P47;SCGF C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 3;C-type lectin domain family 11 member A;C-type lectin superfamily member 3;lymphocyte secreted C-type lectin;lymphocyte secreted long form of C-type lectin;stem cell growth factor;stem cell growth factor; lymphocyte secreted C-type lectin APPROVED protein-coding ENSG00000105472 10576 05277 604713 REVIEWED 1603556 CLEC14A C-type lectin domain family 14, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012] 14 14 14 q21.1 18587840 18590095 - 37793070 37795325 - 38723205 38725575 - 6480464 15489334;15340161;12975309;12508121;12477932;21095181;21706054;22103489;23319000 161198 Q86T13 ABBA01061539;AF161403;AL161751;AMYH01005682;AY358395;AY573061;AY606132;BC031567;BX248017;BX423057;CH471078;NM_175060 AAF28963;AAH31567;AAQ88761;AAS77882;AAT92280;CAD62342;EAW65835;NP_778230;Q86T13 Hs.525307 2160778 WI-11132 C14orf27;CEG1;EGFR-5 C-type lectin domain family 14 member A;ClECT and EGF-like domain containing protein;EGFR-5;OTTHUMP00000178873;epidermal growth factor receptor 5 APPROVED protein-coding ENSG00000176435 19832 10711 REVIEWED 1605475 CLEC18B C-type lectin domain family 18, member B 16 16 q22.3 73000030 73012791 - 74442529 74455368 - 6480464 16344560;12975309;8889548;16336259 497190 Q6UXF7 ABBA01058098;AC009053;AK293982;AMYH01007810;AY358373;BM695392;DA375446;DC309733;NM_001011880 AAQ88739;BAG57351;NP_001011880;Q6UXF7 Hs.454670;Hs.556045;Hs.592064 5112203 RH102328 MRCL2 C-type lectin domain family 18 member B;mannose receptor-like 2;mannose receptor-like protein 1;secretory protein LOC497190 protein-coding ENSG00000140839 33849 17419 VALIDATED 1601795 CLEC17A C-type lectin domain family 17, member A 19 19 19 p13.12 14585844 14615105 + 14554896 14582951 + 14693896 14721956 + 19419970;12477932;21822214;23453885 388512 F8W1T8;H9KVA4;Q6ZS10 ABBA01029658;ABBA01029659;ABBA01051072;ABBA01051073;AC010527;AC135052;AC140008;AMYH01009537;BC140848;BC144664;BC144665;CH471106;NM_001204118;NM_207390 AAI40849;AAI44666;EAW84437;NP_001191047;NP_997273;Q6ZS10 Hs.567933 1339345;1729536 D19S179;D19S385 FLJ45910 C-type lectin domain family 17, member A;OTTHUMP00000240734;OTTHUMP00000240735;OTTHUMP00000240736;OTTHUMP00000240737;prolectin protein-coding ENSG00000187912 34520 16993 VALIDATED 1348681 CLEC2A C-type lectin domain family 2, member A CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM, May 2008] 12 12 12 p13.31 15227207 15246360 - 9942539 9976213 - 10065826 10084980 - 6480464 18550855;18046548;12975309;19630798;20194751 387836 Q6UVW9 ABBA01067795;AC091814;AMYH01004275;AY359126;CH471094;EF127467;EU095393;EU095394;NM_001130711 AAQ89483;ABO33172;ABW79912;ABW79913;EAW96129;EAW96130;NP_001124183;Q6UVW9 Hs.527665 KACL;PILAR;UNQ5792 C-type lectin domain family 2 member A;INPE5792;OTTHUMP00000179165;OTTHUMP00000238863;keratinocyte-associated C-type lectin;proliferation-induced lymphocyte-associated receptor APPROVED protein-coding ENSG00000188393 24191 16720 612087 PROVISIONAL 1601919 CLEC18A C-type lectin domain family 18, member A This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] 16 16 q22.1 68542311 68555390 + 69984608 69998250 + 16303743;14702039;12975309;12477932;17207965;16336259 348174 A5D8T8;F8W692;H3BNR9 ABBA01135730;AC026468;AF428259;AF521893;AK074773;AK096051;AK289884;AK298310;AMYH01007772;AMYH01007773;BC008616;BC078143;BC141808;CQ782710;DC362064;NM_001136214;NM_001271197;NM_182619 A5D8T8;AAH08616;AAH78143;AAI41809;AAP80866;AAP97299;ACE86613;ACE87294;ADQ31998;BAC11199;BAF82573;BAG60564;CAF85945;NP_001129686;NP_001258126;NP_872425 Hs.592064 5037552;5112203 D8S2279;RH102328 CLEC18C;FLJ77955;MGC164804;MRCL;MRCL1;MRLP2 C-type lectin domain family 18 member A;C-type lectin domain family 18 member C;OTTHUMP00000174896;mannose receptor-like 1;mannose receptor-like protein 2;mannose receptor-like protein 3;secretory protein LOC348174 APPROVED protein-coding ENSG00000157322 30388 17360 REVIEWED 1605549 CLEC18C C-type lectin domain family 18, member C 16 16 16 q22.1 54500318 54513191 + 68765429 68778299 + 70207928 70220798 + 12477932;16336259 283971 F5H550;H3BSF2;H3BUD1;Q8NCF0 AC009060;AF448856;AL833339;AMYH01007780;AMYH01007781;AMYH01007782;BC039068;BC062573;NM_173619 AAH39068;AAP41924;NP_775890;Q8NCF0 Hs.556045 5112203 RH102328 MGC34761;MRCL;MRCL3 C-type lectin domain family 18 member C;mannose receptor-like 3;mannose receptor-like protein 3 protein-coding ENSG00000157335 28538 14587 VALIDATED 1351189 CLEC2L C-type lectin domain family 2, member L 7 7 7 q34 133946855 133967908 + 138872371 138879628 + 139208674 139229731 + 6480464 14702039;11181995;17353931 154790 H0YB20;P0C7M8 AACC02000024;ABBA01001194;AC005531;AK057548;AMYH01017977;CH236950;CH471070;NM_001080511 EAW83922;EAW83923;NP_001073980;P0C7M8 Hs.57806 1777796 RH47579 FLJ32986 C-type lectin domain family 2 member L;OTTHUMP00000227878;OTTHUMP00000227879 protein-coding ENSG00000236279 21969 INFERRED 1604037 CLEC16A C-type lectin domain family 16, member A This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 16 16 p13.13 10945943 11183539 + 11038345 11276046 + 2313978;5491175;5491176;5491177;6480464 18946483;21653641;19221398;18593762 19073967;19525955;19506219;19375175;19337309;19317741;19264985;19178520;21833088;22257840;18987646;18978792;18940880;17660530;17632545;17554300;17554260;16344560;15489334;14702039;12477932;12168954;9205841;20694011;20805369;18650830;19305408;19430480;19525953;19734133;19834503;19838195;19851296;19865102;19879194;19951419;20043139;20095854;20190752;20198315;20203524;20220768;20368992;20372818;20379614;20036365;20849399;20962850;21399635;20450971;21179112;21139048;21890473;21906983;21829393;22036096;23042114;23251661;23273568;21963094;23000965;23133532;23151489;22534877 23274 H7BXG1;H7BZI2;H7BZJ9;Q2KHT3 AB002348;ABBA01006805;ABBA01006806;ABBA01006807;AC007014;AC007220;AC133065;AK125825;AK126771;AMYH01007152;AW072095;BC009721;BC112897;BX374760;CH471112;DB062118;DB069341;NG_016757;NM_001243403;NM_015226 AAI12898;BAA20807;EAW85164;EAW85165;NP_001230332;NP_056041;Q2KHT3 Hs.35490 1335004;1340826;1342288;1663259;1672920;1672922;1690123;1695790;1767033;1777278;2126889;2139836;2152305;2166994;2175112;2177399;7183412;7183771 D16S3122;D16S3285;D16S3335;D16S414;D16S497;RH47514;RH70169;RH8139;SHGC-152679;SHGC-2756;SHGC-32917;SHGC-60572;SHGC-60718;SHGC-60777;SHGC-61091;SHGC-82550 Gop-1;KIAA0350;MGC111457 OTTHUMP00000202696;OTTHUMP00000202698;protein CLEC16A APPROVED protein-coding ENSG00000038532 29013 17185 611303 REVIEWED 5484502 CLEC19A C-type lectin domain family 19, member A 16 16 p12.3 19204675 19256472 + 19297105 19322269 + 6480464 12477932;12975309;15489334 728276 H3BQW0;H3BQX8;Q6UXS0 ABBA01028256;AC003003;AC130456;AMYH01007318;BC118600;BC119018;BX640722;NM_001256720 NP_001243649;Q6UXS0 Hs.632180 1336583;1712350;1738759;1758859;1766753;2133782;2142242;2157299;2176078 D16S2630;D16S2635;D16S2847;D16S3041;G17927;G54163;SGC34095;SHGC-151087;SHGC-152054 DKFZp686A05212 C-type lectin domain family 19 member A;C-type lectin domain family 19, member A protein-coding 34522 INFERRED 1349023 CLEC2D C-type lectin domain family 2, member D This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010] 12 12 p13 9713576 9743306 + 9822304 9852151 + 6480464 10541800;18593762;18465072;18453569;16339513;16339512;15123656;15104121;14990792;14753741;12858173;12477932;17554300;20415786;16344560;20843815;21572041;21930700;22664939 29121 F5H0P0;F5H5U4;F5H7V6;F8WF99;H0YGG6;H0YH49;Q9UHP7 ABBA01067793;AC007068;AC010186;AF133299;AF285087;AF285088;AF285089;AK310150;AK310554;AK313554;AMYH01004275;AY144606;BC019883;BC063128;BC094859;BU929933;CB958277;CH471094;DA814760;DB111977;DB124897;FN813349;FN813350;FN813351;NM_001004419;NM_001197317;NM_001197318;NM_001197319;NM_013269;NR_036693 AAF22159;AAG00514;AAG00515;AAG00516;AAH19883;AAH94859;AAN59996;CBL81070;CBL81071;CBL81072;EAW96114;EAW96118;EAW96119;NP_001004419;NP_001184246;NP_001184247;NP_001184248;NP_037401;Q9UHP7 Hs.268326 1644621;1663216;1664873;1698334;1770552;1771295;2161081;2171548;2185692;5019168;5093442;5111923 A006O20;A009O48;G32720;G42957;GDB:314027;RH102708;RH103152;RH66559;RH68046;SHGC-60208;STS-R00578;WI-20643 CLAX;LLT1;OCIL C-type lectin domain family 2 member D;C-type lectin related f;LLT-1;OTTHUMP00000205778;OTTHUMP00000205781;OTTHUMP00000238802;OTTHUMP00000238803;OTTHUMP00000239055;OTTHUMP00000239056;OTTHUMP00000239057;OTTHUMP00000239058;OTTHUMP00000239091;OTTHUMP00000239092;lectin-like NK cell receptor;lectin-like transcript 1;osteoclast inhibitory lectin APPROVED protein-coding 14351 16134 605659 REVIEWED 1346944 CLEC1B C-type lectin domain family 1, member B Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011] 12 12 p13.2 10036927 10043166 - 10145660 10151899 - 6480464 10671229;18955485;18707544;18583525;18215137;17616532;17132623;16940507;16541075;16511244;16174766;15489334;12975309;12477932;11745369;16189514;22556408;20549515;20482880;19483399;19785988;19824697;20154214;20154219;20237496;21714702;22736279;22740230;23053573;22682130 51266 H7BYT7;Q9P126 ABBA01067796;AC091814;AF124841;AMYH01004276;AY358599;BC029554;BX647321;CH471094;NM_001099431;NM_016509 AAF36777;AAH29554;AAQ88962;ADZ15967;EAW96134;NP_001092901;NP_057593;Q9P126 Hs.409794 1659690;1729165;1760235;1778410;2136228;5093862 A009Y03;G32968;G63919;RH44593;SHGC-132532;SHGC-34934 1810061I13Rik;CLEC2;CLEC2B;PRO1384;QDED721 C-type lectin domain family 1 member B;C-type lectin-like receptor 2;C-type lectin-like receptor-2;CLEC-2;OTTHUMP00000238865;OTTHUMP00000238866 APPROVED protein-coding ENSG00000165682 24356 09490 606783 VALIDATED 1343742 CLEC1A C-type lectin domain family 1, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. Alternative splice variants have been described but their biological nature has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13.2 15384462 15412281 - 10114347 10142872 - 10223080 10251605 - 6480464 10671229;16303743;15489334;14702039;12975309;12945048;12477932;11745369;10508765;22117783;22318606 51267 E7ESV9;E9PFB4;F5H038;F8WCT4;Q8NC01 ABBA01067796;AC024224;AF200949;AK075114;AK091989;AK291584;AK300979;AK313589;AMYH01004276;AY358587;BC039072;BC067746;BM920364;BQ722745;CH471094;NM_016511 AAF36830;AAH39072;AAH67746;AAQ88950;ABM83366;ABM86577;BAC11410;BAF84273;BAG52458;BAG62601;EAW96140;EAW96141;EAW96142;EAW96143;NP_057595;Q8NC01 Hs.29549 1674561;5093670 A009U38;G32855 CLEC1;MGC34328 C-type lectin domain family 1 member A;C-type lectin-like receptor 1;C-type lectin-like receptor-1;CLEC-1;OTTHUMP00000238867;OTTHUMP00000238868;OTTHUMP00000238869 APPROVED protein-coding ENSG00000150048 24355 09489 606782 REVIEWED 1604835 CLEC2B C-type lectin domain family 2, member B This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13-p12 15166341 15183831 - 9896235 9913725 - 10004968 10022458 - 6480464 9038101;18029348;18922855;15489334;12945048;12477932;10783260;10508765;10072769;8889548;16712791;20663776;20237496;21832049 9976 F5H631;Q92478 AB015628;ABBA01067794;ABBA01067795;AC007068;AC091814;AK307334;AK311232;AK313916;AL550908;AMYH01004275;AY142147;BC005254;BG503026;BG540007;BG779377;BM973072;CA447397;CB160326;CH471094;JA738787;NM_005127;X96719 AAH05254;AAN46677;ABM83435;ABM86649;BAA76495;BAG36638;CAA65480;CCF77046;EAW96127;EAW96128;NP_005118;Q92478 Hs.85201 1710232;1713937;2133480 RH119397;SHGC-84624;WI-14884 AICL;CLECSF2;HP10085;IFNRG1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced);C-type lectin domain family 2 member B;C-type lectin superfamily member 2;IFN-alpha-2b-inducing-related protein 1;IFN-alpha2b-inducing related protein 1;OTTHUMP00000238852;activation-induced C-type lectin APPROVED protein-coding 2053 09129 603242 REVIEWED 1602501 CLEC3B C-type lectin domain family 3, member B 3 3 p22-p21.3 45042763 45052567 + 45067759 45077563 + 1625347;6480464 15334463 17353931;7798325;14718574;16453284;15848710;15489334;12694198;12477932;11962752;10964919;10727405;10614823;9757090;9256258;9154122;8418471;3427041;3009181;2533389;2298916;1511740;1354271;21832049;7589422;9786936;21900206;15901484 7123 E9PHK0;P05452 ABBA01024733;AC104165;AK312093;AMYH01013126;BC011024;BI837909;CH471055;CR541981;CR542009;CR749292;NM_003278;X64559;X70910;X70911;X70912;X98121 AAH11024;BAG35029;CAA45860;CAA50265;CAA66803;CAG46778;CAG46806;CAH18147;EAW64735;EAW64736;NP_003269;P05452 Hs.476092 2108585;2121211;2146653 RH70861;SHGC-32929;TNA_8680 DKFZp686H17246;TN;TNA OTTHUMP00000164117;plasminogen kringle 4-binding protein;tetranectin;tetranectin (plasminogen binding protein);tetranectin (plasminogen-binding protein) protein-coding ENSG00000163815 11891 01759 187520 VALIDATED 1604398 CLEC3A C-type lectin domain family 3, member A 16 16 16 q23 62354541 62364097 + 76613944 76623499 + 78056443 78066003 + 6480464 10524194;19173304;16344560;15489334;12975309;12477932;19844255 10143 H3BTK1;J3KNC9;O75596 AA399390;ABBA01017028;AC079414;AF077345;AI927004;AK313316;AMYH01007825;AY358376;BC104414;BC104415;BQ181694;CH471114;CN480352;DA998903;NM_001244755;NM_005752 AAD12542;AAI04415;AAI04416;AAQ88742;BAG36121;EAW95592;EAW95593;NP_001231684;NP_005743;O75596 Hs.177936 1683711;2217168 CLECSF1_3519;RH91983 CLECSF1;MGC129558;MGC129559 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived);C-type lectin domain family 3 member A;C-type lectin superfamily member 1;C-type lectin, superfamily member 1;OTTHUMP00000174964;cartilage-derived C-type lectin protein-coding ENSG00000166509 2052 13072 613588 VALIDATED 1347298 CLEC4D C-type lectin domain family 4, member D This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 10202132 10210958 + 8557403 8566229 + 8666136 8674962 + 6480464 18029348;15368084;14971047;12945048;12477932;10508765;22689578 338339 A6NHA5;Q8WXI8 ABBA01012242;AC092746;AF411850;AK314071;AMYH01004238;AY115592;AY297446;AY486482;AY486483;BC032313;BI909298;CH471116;NM_080387 AAH32313;AAL37713;AAM75389;AAQ63173;AAS59161;AAS59162;ABM85355;EAW88619;NP_525126;Q8WXI8 Hs.351811 2189397;2191643 MARC_3557-3558:966881413:1;MARC_4325-4326:991938466:1 CLEC-6;CLEC6;CLECSF8;MCL;MGC40078;MPCL C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8;C-type lectin domain family 4 member D;C-type lectin receptor;C-type lectin superfamily member 8;C-type lectin-like receptor 6;OTTHUMP00000239173;OTTHUMP00000239174;macrophage C-type lectin APPROVED protein-coding ENSG00000166527 14554 13074 609964 REVIEWED 1352867 CLEC4A C-type lectin domain family 4, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 p13 8167495 8182470 + 8276228 8291203 + 6480464 10438934;18029348;19028959;18541725;18480830;18258799;17665455;16360206;15489334;14550269;12945048;12477932;11994513;11178971;10508765;20530286;21536857;22664939;22829930 50856 H0YGF9;Q9UMR7 AA418441;ABBA01012236;ABBA01012237;AC006511;AC092111;AF067800;AF109146;AF200738;AF328684;AI400631;AJ133532;AMYH01004224;AMYH01004225;BC074822;BC074874;BC117439;BC117441;CH471116;NM_016184;NM_194447;NM_194448;NM_194450 AAF14348;AAF75560;AAG35593;AAH74822;AAH74874;AAI17440;AAI17442;AAL56016;ADR83505;CAB54001;EAW88632;EAW88633;EAW88634;EAW88635;NP_057268;NP_919429;NP_919430;NP_919432;Q9UMR7 Hs.504657 1850799;2109157 CLECSF6_3585;G41279 CLECSF6;DCIR;DDB27;HDCGC13P;LLIR C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6;C-type lectin DDB27;C-type lectin domain family 4 member A;C-type lectin superfamily member 6;OTTHUMP00000239052;OTTHUMP00000239053;OTTHUMP00000239070;OTTHUMP00000239071;dendritic cell immunoreceptor;lectin-like immunoreceptor APPROVED protein-coding ENSG00000111729 13257 05604 605306 REVIEWED 1349387 CLEC4C C-type lectin domain family 4, member C This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 p13.2-p12.3 7773278 7793336 - 7882011 7902069 - 6480464 20888334;18684674;18022864;17850179;15489334;12975309;12477932;11748283;11536172;11086035;11031109;21436634;20588308;12386167;19577819;19829303;21880719;23053572 170482 H0YFH6;H0YGB2;Q8WTT0 ABBA01012208;ABBA01012209;AC006517;AF293615;AF325459;AF325460;AK122596;AMYH01004218;AY358223;BC074967;BC074968;BC102015;BC102016;BC102017;BC114338;CH471116;NM_130441;NM_203503 AAH74967;AAH74968;AAI02016;AAI02017;AAI02018;AAI14339;AAL37036;AAL37358;AAL37359;AAQ88590;BAG53616;EAW88654;EAW88655;EAW88656;NP_569708;NP_987099;Q8WTT0 Hs.351812 5022578;5022651 D11S2921;D1S1423 BDCA2;CD303;CLECSF11;CLECSF7;DLEC;HECL;MGC125789;MGC125791;MGC125792;MGC125793;PRO34150 BDCA-2;C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11;C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7;C-type lectin domain family 4 member C;C-type lectin domain family 4, member C, isoform 1;C-type lectin superfamily member 7;OTTHUMP00000238795;OTTHUMP00000238796;OTTHUMP00000238797;OTTHUMP00000238799;blood dendritic cell antigen 2 protein;dendritic cell lectin b;dendritic lectin APPROVED protein-coding ENSG00000198178 13258 09453 606677 REVIEWED 1354444 CLEC4F C-type lectin domain family 4, member F 2 2 2 p13.3 70886456 70898414 - 70889283 70901240 - 71035775 71047732 - 69939;633037;6480464 8889548;1846367 16713569;14702039;12477932 165530 A4QPA5;B7Z704;B7ZMM1;Q8N1N0 ABBA01075541;ABBA01075542;AC007395;AK096429;AK301242;AMYH01010425;BC139723;BC144652;BU740367;CD701685;CH471053;NM_001258027;NM_173535 AAI39724;AAI44653;BAC04786;BAH13440;EAW99794;NP_001244956;NP_775806;Q8N1N0 Hs.681239 2217166 CLECSF13_3642 CLECSF13;FLJ39110;KCLR C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13;C-type lectin 13;C-type lectin domain family 4 member F;C-type lectin superfamily member 13;OTTHUMP00000160127;OTTHUMP00000203412 protein-coding ENSG00000152672 25357 13073 VALIDATED 1344050 CLEC4E C-type lectin domain family 4, member E This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 10221897 10229555 - 8577168 8584825 - 8685901 8693558 - 6480464;6907045 21282371;10528209;18509109;16344560;15489334;12975309;12945048;12477932;10508765;17207965;19120481;20237496;20608913;22698596;22641025;22479529 26253 F5H5X7;F8WFA1;H0YGH9;Q9ULY5 AB024718;ABBA01012242;AC092746;AK312671;AMYH01004238;AY358499;BC000715;CH471116;DA669951;DA678013;NM_014358 AAH00715;AAQ88863;ADQ33211;BAA83755;BAG35553;EAW88617;EAW88618;NP_055173;Q9ULY5 Hs.236516 1795584 CLECSF9_40 CLECSF9;MINCLE C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9;C-type lectin domain family 4 member E;C-type lectin superfamily member 9;OTTHUMP00000239175;OTTHUMP00000239177;macrophage-inducible C-type lectin APPROVED protein-coding ENSG00000166523 14555 13075 609962 REVIEWED 1343177 CLEC9A C-type lectin domain family 9, member A CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008] 12 12 12 p13.2 15344658 15379948 + 10074543 10109832 + 10183276 10218565 + 6480464 19219027;18669894;18497879;18408006;12975309;20479117;21677141;22234694;22442345;22483800;22483802 283420 Q6UXN8 ABBA01067796;AC024224;AK307335;AMYH01004276;AY358265;EU339276;NM_207345 AAQ88632;ABZ04557;NP_997228;Q6UXN8 Hs.531189 1339892;1729137;1858153;2118757;2160705;2218858 D12S1674;D12S1823;G63920;RH70065;SGC34321;UNQ9341__5023 DNGR1;UNQ9341 C-type lectin domain family 9 member A;HEEE9341;OTTHUMP00000238703 APPROVED protein-coding ENSG00000197992 26705 16723 612252 PROVISIONAL 1625847 CLEC4GP1 C-type lectin domain family 4, member G pseudogene 1 19 19 19 p13.2 7723645 7727152 + 7758370 7761897 + 7852370 7855898 + 14702039;12477932 440508 ABBA01010886;AC008812;AK090689;AK090734;AK123140;AMYH01009412;BC047593;NR_002931 Hs.568222 2119226;5020948;5109281 D1S1425;G35510;RH66629 FLJ33370;FLJ33415;FLJ41145;MGC48640 pseudo 33502 VALIDATED 1354383 CLEC4G C-type lectin domain family 4, member G This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 p13.2 7664968 7668182 - 7699850 7703005 - 7793843 7797057 - 6480464 18624398;19111020;18697825;18083206;17339424;15489334;14711836;12975309;12477932;19632227;20127679;20237496;22711492;21257728;22156524;22842622 339390 B7ZKQ2;M0R277;Q08G24;Q6UXB4;Q6XYD1 ABBA01010887;AC008763;AMYH01009412;AY203939;AY358431;AY423706;BC039679;BC093691;BC093693;BC143309;CH471139;NG_030321;NM_001244856;NM_198492 AAH93691;AAH93693;AAI43310;AAP34462;AAQ88797;AAR84185;EAW69003;NP_001231785;NP_940894;Q6UXB4 Hs.220649 DTTR431;LP2698;LSECtin;UNQ431 C-type lectin domain family 4 member G;C-type lectin superfamily 4, member G;DTTR431;liver and lymph node sinusoidal endothelial cell C-type lectin APPROVED protein-coding ENSG00000182566 24591 16721 REVIEWED 1351045 CLEC6A C-type lectin domain family 6, member A Like dectin-1 (CLEC7A; MIM 606264), CLEC6A, or dectin-2, is a type II membrane receptor with an extracellular C-type lectin-like domain fold. However, unlike dectin-1, dectin-2 lacks an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain (Kanazawa et al., 2004 [PubMed 15175046]).[supplied by OMIM, Nov 2010] 12 12 12 p13 10144899 10166924 + 8499858 8522193 + 8608591 8630926 + 6480464 15810886;15368084;15175046;12477932;21283787 93978 Q6EIG7 ABBA01012242;AC092746;AC092865;AK308011;AMYH01004238;AY321309;AY365135;BC132933;BC132935;CH471116;NM_001007033 AAI32934;AAI32936;AAQ83725;AAR13071;EAW88620;NP_001007034;Q6EIG7 Hs.591147 CLEC4N;CLECSF10;dectin-2 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10;C-type lectin domain family 6 member A;C-type lectin superfamily member 10;DC-associated C-type lectin 2;DC-associated C-type lectin-2;OTTHUMP00000239172;dectin 2;dectin-2;dendritic cell-associated C-type lectin 2 APPROVED protein-coding ENSG00000205846 14556 16722 613579 PROVISIONAL 1602831 CLECL1 C-type lectin-like 1 This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 12 12 12 p13.31 15036506 15047277 - 9766358 9777127 - 9868456 9885895 - 6480464 19027044;12477932;12421943;20237496;19648166;16344560;21833088 160365 H0YFK3;H0YGV3;Q8IZS7 ABBA01067794;AC007068;AF518873;AMYH01004275;AW237307;BC042176;BC093857;BC093859;BX103210;CH471094;DA619574;JA738661;NM_001253750;NM_001267701;NM_172004 AAH93857;AAH93859;AAN64752;CCF76983;EAW96120;EAW96121;NP_001240679;NP_001254630;NP_742001;Q8IZS7 Hs.560087;Hs.734740 DCAL-1;DCAL1 C-type lectin-like domain family 1;DC-associated lectin-1;DCAL-1;OTTHUMP00000238837;dendritic cell associated lectin 1;dendritic cell-associated lectin 1;dendritic cell-associated lectin-1;type II transmembrane protein DCAL1 APPROVED protein-coding ENSG00000184293 24462 16247 607467 REVIEWED 5508856 CLIC1P1 chloride intracellular channel 1 pseudogene 1 12 12 q24.31 119826639 119837312 + 121352207 121352926 + 390363 ABBA01020142;AC069214;AC078875;AMYH01004806;NG_021736 pseudo 32691 INFERRED 1343085 CLEC5A C-type lectin domain family 5, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q33 136348653 136368271 - 141273626 141293252 - 141627157 141646783 - 6480464 10449773;18496526;15489334;12945048;12853948;12690205;12477932;10508765;20057064;20237496;21094529;21566123;23568457;23152543;22536019 23601 A4D1U7;C9JCE4;C9JPR7;F8WCL0;Q14DL9;Q9NY25 AACC02000019;ABBA01034113;ABBA01034114;AC073647;AF139768;AI418484;AJ271684;AK292766;AK295200;AK307095;AK313703;AMYH01018004;BC093714;BC112099;BC113098;BC113099;BC143392;BQ005467;BQ446122;CH236950;CH471070;NM_013252 AAF02491;AAH93714;AAI12100;AAI13099;AAI13100;AAS07444;BAF85455;BAG36449;BAG58199;CAB71334;EAL24012;EAW83991;EAW83992;NP_037384;Q9NY25 Hs.446235 2109155 CLECSF5_3562 CLECSF5;MDL-1;MDL1;MGC138304 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5;C-type lectin domain family 5 member A;C-type lectin superfamily member 5;OTTHUMP00000211626;OTTHUMP00000211628;OTTHUMP00000211630;myeloid DAP12-associating lectin 1;myeloid DAP12-associating lectin-1 APPROVED protein-coding ENSG00000258227 2054 09229 604987 REVIEWED 1603701 CLEC4M C-type lectin domain family 4, member M This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009] 19 19 p13 7734081 7740491 + 7828035 7834491 + 6480464;6907045 22279577;11257134;11337487;10072769;19249311;19141225;19046307;18841568;18775666;18697825;18458800;18375037;18171520;18083206;17876530;17715238;17530994;17509452;17037540;17006978;16894195;16883544;16453266;16434485;16386217;16369534;16364081;16344560;16061998;15812562;15784257;15509576;15496474;15489334;15371595;15195147;15184372;15111305;14702039;12502850;12477932;12403912;12223058;12152166;12050398;11739956;11384997;11226297;10975799;16365436;15795245;15215692;1736938;1518869;12621057;12634366;20799037;16246332;18708672;19617348;19809496;19833723;19835887;20003397;20108443;20152818;20217198;20331378;21029358;21191006;22957026;17342744;21650186;22338216;22090124;21899704;23312596;22902397;17632570;19514109;21277928;22842622 10332 B4E2Z5;E7ENS9;H7BXE2;H7BXU4;M0QYX2;M0QZ42;Q96QP6 AA431250;AB015629;ABBA01010887;AC008812;AF209481;AF245219;AF290887;AK023750;AK292278;AK298084;AK304499;AK314704;AMYH01009412;AY042234;AY042235;AY042236;AY042237;AY042238;AY042239;AY042240;AY343913;BC038851;BC110614;BQ008265;BX102225;CH471139;DB030283;DB048428;NG_029190;NM_001144904;NM_001144905;NM_001144906;NM_001144907;NM_001144908;NM_001144909;NM_001144910;NM_001144911;NM_014257;NR_026707;NR_026708;NR_026709 AAG13815;AAG13848;AAH38851;AAI10615;AAK20998;AAK91859;AAK91860;AAK91861;AAK91862;AAK91863;AAK91864;AAK91865;AAR04559;ABM84705;BAA76496;BAB14667;BAF84967;BAG60371;BAG65307;EAW68983;EAW68984;EAW68985;EAW68986;EAW68987;EAW68988;EAW68989;EAW68990;NP_001138376;NP_001138377;NP_001138378;NP_001138379;NP_001138380;NP_001138381;NP_001138382;NP_001138383;NP_055072;Q9H2X3 Hs.421437 1678307;1792282;1792284;5022578;5022651 D11S2921;D1S1423;PMC140574P1;PMC140574P2;RH65100 CD209L;CD299;DC-SIGN2;DC-SIGNR;DCSIGNR;HP10347;L-SIGN;LSIGN;MGC129964;MGC47866 C-type lectin domain family 4 member M;CD209 antigen-like protein 1;CD299 antigen;DC-SIGN-related protein;dendritic cell-specific ICAM-3-grabbing non-integrin 2;dendritic cell-specific ICAM-3-grabbing nonintegrin 2;liver/lymph node-specific ICAM-3 grabbing non-integrin;liver/lymph node-specific ICAM-3-grabbing non-integrin;mannose binding C-type lectin DC-SIGNR APPROVED protein-coding ENSG00000104938 13523 12060 605872 REVIEWED 1350458 CLEC7A C-type lectin domain family 7, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008] 12 12 p13.2 10160643 10174135 - 10269376 10282868 - 6480464;6907045;7240710 15130945;11567029;19134118;19122653;18549457;17698636;17182550;16870151;16344560;16341139;15956283;15944324;15816015;15728245;15489334;14707091;12975309;12945048;12689921;12477932;12423684;11745369;11544516;11491532;11470510;10779524;10508765;7566098;23475217;21242599;21283787;20299682;20577092;20807886;20360401;19223162;19358895;19614557;19633936;19773555;19811837;19864674;19888805;19915667;20237496;20421639;20452827;20158887;17207965;20631729;21296999;20608913;22562430;23374272;20700596;21876553;23097038;21531876;22384201;21881131;21985303;22199280;21426724;21906983;22267217;21899704;22674328;23239982;21988832;21515468;22952831 64581 Q68D78;Q96LD3 AA361063;ABBA01067796;AC024224;AF313468;AF313469;AF400595;AF400596;AF400597;AF400598;AF400599;AF400600;AF400601;AF400602;AJ312372;AJ312373;AK294111;AK295108;AK297028;AK298679;AK298724;AK313247;AMYH01004276;AY009090;AY026769;AY026770;AY026771;AY358685;AY359002;BC013385;BC071746;BC093829;BC093831;CH471094;CQ779237;CQ779239;CR749536;DA193873;NG_016291;NM_022570;NM_197947;NM_197948;NM_197949;NM_197950;NM_197954 AAG33923;AAH13385;AAH71746;AAH93829;AAH93831;AAK20114;AAK20115;AAK20116;AAK37473;AAK37474;AAL11711;AAL11712;AAL11713;AAL11714;AAL11715;AAL11716;AAL11717;AAL11718;AAQ89048;AAQ89361;ADQ32026;BAG36058;BAH11674;BAH11976;BAH12480;BAH12845;BAH12855;CAC43846;CAC43847;CAF63003;CAF63006;CAH18342;EAW96144;EAW96145;EAW96146;EAW96147;EAW96148;EAW96149;EAW96150;EAW96151;EAW96152;EAW96153;EAW96154;EAW96155;NP_072092;NP_922938;NP_922939;NP_922940;NP_922941;NP_922945;Q9BXN2 Hs.143929 1341163;5014019;5016478;5022322 D11S2560;D12S1690;D5S2354;GDB:434012 BGR;CANDF4;CLECSF12;DECTIN1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12;C-type lectin domain family 7 member A;C-type lectin superfamily member 12;DC-associated C-type lectin 1;OTTHUMP00000164964;OTTHUMP00000164965;OTTHUMP00000164966;OTTHUMP00000233744;OTTHUMP00000233745;OTTHUMP00000233746;OTTHUMP00000233748;OTTHUMP00000233749;beta-glucan receptor;dectin-1;dendritic cell-associated C-type lectin 1;dendritic cell-associated C-type lectin-1;lectin-like receptor 1 APPROVED protein-coding ENSG00000172243 14558 08396 606264;613108;614079 REVIEWED 1606727 CLHC1 clathrin heavy chain linker domain containing 1 2 2 2 p16.1 55240204 55300225 - 55256289 55312953 - 55399683 55459699 - 6480464 12477932;8889548;16344560;14702039;20379614 130162 B5MC48;C9J143;D6W5C8;E7EQP3;E7EVC5;H7C1D8;Q8NHS4 ABBA01075262;ABBA01075263;ABBA01075264;AC012358;AC093165;AK056000;AK315683;AMYH01010362;BC029502;BC036908;BM046729;BM968338;CH471053;DA249479;DA713663;NG_033063;NM_001135598;NM_152385 AAH29502;AAH36908;AAY24030;BAB71069;BAG38048;EAX00111;EAX00112;EAX00113;EAX00114;NP_001129070;NP_689598;Q8NHS4 Hs.347014 1643630;1655792;1673963;1703322;2163182 RH16264;RH45629;RH47411;SHGC-34889;SHGC-68562 C2orf63;FLJ31438 OTTHUMP00000200781;OTTHUMP00000200782;OTTHUMP00000200784;OTTHUMP00000201798;OTTHUMP00000201799;clathrin heavy chain linker domain-containing protein 1;hypothetical protein LOC130162;uncharacterized protein C2orf63 APPROVED protein-coding 26453 08100 VALIDATED 1343269 CLGN calmegin Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. [provided by RefSeq, Jul 2008] 4 4 4 q28.3-q31.1 138639605 138678818 - 141529057 141568232 - 141309607 141348815 - 1580863;6480464 9177349;17903293;17081983;16264275;15489334;14702039;12477932;11784061;10495883;9434179;8126001;20379614;21139048;21903422;22190034 1047 D6RAZ4;O14967 ABBA01069980;ABBA01069981;AC093671;AK093096;AK290819;AK299243;AK302149;AL045602;AMYH01014571;BC028357;CH471056;D86322;DC396076;NM_001130675;NM_004362 AAH28357;ABM83026;ABM86221;BAA22590;BAF83508;BAG52652;BAG61274;BAG63520;EAX05099;EAX05100;EAX05101;NP_001124147;NP_004353;O14967 Hs.86368 1653676;2109159 CLGN_8249;SHGC-67906 OTTHUMP00000164610;calmegin APPROVED protein-coding ENSG00000153132 2060 03513 601858 REVIEWED 1353337 CLIC1 chloride intracellular channel 1 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008] 6 6 p21.3 31806337 31812320 - 31698358 31704341 - 1580863;6480464 14667819;9139710;16130169;10793131;19143821;18850721;18710659;18028448;17347778;17326840;16289162;16236267;15827065;15489334;15190104;14656967;14613939;14574404;12681486;12477932;12163479;11978800;11551966;11195932;10834939;10384126;10191309;9841507;9339381;8125298;7938007;7711732;1345164;16009940;22426742;22173998;19913121;20587610;20628086;19143814;19299076;19659809;19703605;19845400;19851445;20507120;21319273;20461716;22578365;21858536;22082111;17620599;21139048;21890473;21906983;22242893;19738201;19805454;21963094;21988832;22304920;22623428;23000965;22505724;22791942;22952844 1192 O00299;Q5SRT3 ABBA01038084;AF034607;AF109197;AF129756;AJ012008;AK129773;AK223379;AK314014;AL662899;AL670886;AL844216;AMYH01016217;BA000025;BC064527;BC095469;BM562536;BX248244;CH471081;CR354443;CR542071;CR759787;CR936239;NM_001288;U93205;X87689 AAC25675;AAD18073;AAD20437;AAD26137;AAH64527;AAH95469;BAB63376;BAD97099;BAG36725;CAA61020;CAB46078;CAG46868;EAX03503;EAX03504;EAX03505;NP_001279;O00299 Hs.414565 1686540;1694552;2106203;2106205;2141001;2189743;5117008 9N-1;CLIC1;D6S2782;G43219;N3_2_2;RH65001;STS-W60956 G6;NCC27 OTTHUMP00000029131;OTTHUMP00000029133;OTTHUMP00000029137;OTTHUMP00000174486;RNCC protein;chloride channel ABP;chloride intracellular channel protein 1;hRNCC;nuclear chloride ion channel 27;nuclear chloride ion channel protein;p64CLCP;regulatory nuclear chloride ion channel protein APPROVED protein-coding ENSG00000213719 2062 04188 602872 REVIEWED 1316330 CLIC3 chloride intracellular channel 3 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110401370 110403334 - 139008881 139010845 - 139889060 139891024 - 1580863;6480464 9880541;17027078;15489334;12477932;11563969;9139710;17207965;18029348;20146363;21832049;22795578;21044950 9022 O95833;Q5SQ17 ABBA01022734;AF102166;AI741256;AL807752;AMYH01021882;BC007012;BF439361;BM043659;CH471090;CR542066;NM_004669 AAD16450;AAH07012;ADQ32467;CAG46863;EAW88329;EAW88330;NP_004660;O95833 Hs.64746 1654876 RH47857 OTTHUMP00000022630;OTTHUMP00000022631;OTTHUMP00000022632;chloride intracellular channel protein 3 APPROVED protein-coding 2064 05941 606533 REVIEWED 1315278 CLIC2 chloride intracellular channel 2 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 2 is a member of the p64 family; the protein is detected in fetal liver and adult skeletal muscle tissue. This gene maps to the candidate region on chromosome X for incontinentia pigmenti. [provided by RefSeq, Jul 2008] X X q28 154158694 154217180 - 154505500 154563986 - 1580863;6480464 15489336;16130169;11256614;18186468;18007051;17945253;16381901;15772651;15489334;15147738;12681486;12601004;12477932;11076863;9339381;8908511;1311421;19953087;21906983;15916532;19738201;22814392;23000965 1193 A6PVS0;O15247 ABBA01029136;ABBA01029137;ABBA01029138;ABBA01029139;ABBA01029140;ABBA01029141;ABBA01029142;ABBA01029143;ABBA01029144;ABBA01029145;ABBA01029146;AC234781;AJ000217;AJ000218;AJ000219;AK292785;AL356738;AMYH01023323;AW961768;AY191592;BC005367;BC022305;BQ004708;BX482109;CD691162;CH471172;NG_012497;NM_001289;Y12696 AAH22305;AAO38670;ABM82940;ABM86130;BAF85474;CAA03948;CAA73228;CAI41464;CAL37933;CAO77905;EAW72624;EAW72625;NP_001280;O15247 Hs.655445 1682666;1698880 RH103007;RH79860 CLIC2b;MRXS32;XAP121 OTTHUMP00000024248;OTTHUMP00000196471;chloride intracellular channel protein 2 APPROVED protein-coding ENSG00000155962 2063 02139 300138;300886 REVIEWED 737114 CLIC4 chloride intracellular channel 4 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008] 1 1 p36.11 24944435 25043346 + 25071760 25170815 + 1580863;6480464 10793131;12163372;11256614;18028448;17636002;17200346;16842122;16381901;16344560;16316993;16239224;15489336;15489334;14702039;14569596;12477932;11563969;11230166;11076863;10191309;10070163;9880541;9295337;9139710;8175911;21319273;22387366;18029348;19247789;19639201;19713532;19776349;20379614;10026142;20374090;20877624;22939629;12163479;21139048;21890473;20881960;22505724;23042605;22761775 25932 Q6FIC5;Q9Y696 ABBA01059916;ABBA01059917;ABBA01059918;ABBA01059919;ABBA01059920;ABBA01059921;AF097330;AF109196;AK001624;AK095959;AK301466;AK307142;AK315051;AL080061;AL117424;AL162008;AL445648;AL662924;AMYH01000374;AMYH01000375;AMYH01000376;AMYH01000377;BC012444;BQ574968;BQ929781;CH471134;CR533501;DA904028;DB091421;NM_013943;Z24740;Z24749 AAD26136;AAD38446;AAH12444;BAA91794;BAG37528;BAG53175;BAG62986;CAB55916;CAG38532;CAL38520;EAW95142;EAW95143;EAW95144;EAW95145;EAW95146;NP_039234;Q9Y696 Hs.440544;Hs.595507 1340143;1672275;1689308;1744325;1754657;1755421;1769845;1770093;1791942;2142574;5118095 D1S234;G64279;GDB:451688;PMC133822P1;RH12109;SHGC-133015;SHGC-142298;SHGC-60179;SHGC-74379;SHGC-74412;SHGC-74417 CLIC4L;DKFZp566G223;FLJ38640;H1;MTCLIC;huH1;p64H1 OTTHUMP00000003380;OTTHUMP00000003381;chloride intracellular channel 4 like;chloride intracellular channel protein 4;intracellular chloride ion channel protein p64H1 APPROVED protein-coding ENSG00000169504 13518 05943 606536 REVIEWED 1351761 CLIC5 chloride intracellular channel 5 This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 6 6 6 p12.3 47419073 47600603 - 45974171 46091553 - 45866188 46048085 - 1580863;6480464 10793131;18676988;18028448;17492382;16303743;15489334;15184393;14702039;14574404;12477932;12200217;12163479;8889548;8125298;20335315;20379614;15342556;16344560;17021174;20055760;20946665;19738201;22699663;23326517 53405 Q49AE1;Q53G01;Q9NZA1 ABBA01050622;ABBA01050623;ABBA01050624;ABBA01050625;ABBA01050626;AF086005;AF176920;AF216941;AJ420547;AK025350;AK075144;AK075163;AK097048;AK222544;AK223130;AK314416;AL049313;AL050336;AL357057;AL591211;AMYH01016325;AMYH01016326;AY032602;BC020923;BC035968;BC039380;BI559571;BP369816;BQ184144;CH471081;CQ783210;CQ783238;DA843541;DQ679794;NG_031965;NM_001114086;NM_001256023;NM_016929;NR_045672;NR_045673;NR_045674 AAF66928;AAH20923;AAH35968;AAH39380;AAK52083;AAQ13664;ABG46342;ABM83569;ABM86807;BAC11432;BAC11444;BAD96264;BAD96850;BAG37037;BAG53413;CAF86413;CAF86432;EAX04285;EAX04286;EAX04287;NP_001107558;NP_001242952;NP_058625;Q9NZA1 Hs.485489;Hs.734348 1658418;1679786;1708662;1714167;1721689;1755703;2109161;2116261;2147026;2158761;2164541;2171137;2183031;5092946 A009C40;CLIC5_9767;D6S1920;G32428;G59707;RH119692;RH98972;SHGC-142542;SHGC-53210;SHGC-60239;SHGC-85135;STS-H13265;WI-21120;WI-21687 CLIC5B;FLJ90663;MST130;MSTP130;dJ447E21.4 OTTHUMP00000016537;OTTHUMP00000016538;chloride intracellular channel 5A;chloride intracellular channel protein 5 APPROVED protein-coding ENSG00000112782 13517 06292 607293 REVIEWED 735803 CLIC6 chloride intracellular channel 6 This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 21 21 21 q22.12 21241258 21290092 + 34963558 35012389 + 36041688 36090519 + 1580863;6480464 15489334;14702039;14597386;12747765;12477932;12226712;10830953;8889549;14499480;19834535 54102 Q96NY7 ABBA01057368;ABBA01057369;AF308293;AF426169;AF448438;AF448439;AK092733;AK289663;AMYH01012216;AP000330;BC040196;CH471079;NM_053277 AAH40196;AAL24813;AAN76729;AAN76730;BAC03959;BAF82352;EAX09775;EAX09776;NP_444507;Q96NY7 Hs.473695 1759883;1790597;2128036;2218384 CLIC6_4585;D21S65;SHGC-170123;STS_CEB234 CLIC1L OTTHUMP00000108627;OTTHUMP00000108628;chloride channel form A;chloride intracellular channel protein 6;parchorin APPROVED protein-coding ENSG00000159212 2065 615321 REVIEWED 734383 CLIP2 CAP-GLY domain containing linker protein 2 The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 69183344 69299516 + 73341741 73458209 + 73703805 73820273 + 734863;6480464 12195424 21606360;9799601;17081983;15790807;15122254;14760703;12853948;12477932;12168954;11290329;9847074;9179496;8812460;20379614;20936779;22608712;22558309 7461 A7E2F7;H7C4L6;H7C5H8;Q9UDT6 AB006629;ABBA01063894;ABBA01063895;ABBA01063896;ABBA01063897;ABBA01063898;ABBA01063899;ABBA01063900;AC005015;AF041055;AF041056;AF041057;AF041058;AF041059;AI204077;AL157546;AMYH01017548;AMYH01017549;AMYH01017550;AMYH01017551;AY295764;AY927468;AY927469;BC006259;BC150332;CH471200;NG_011830;NM_003388;NM_032421 AAB96784;AAF03524;AAI40370;AAI48703;AAI50333;AAP91873;BAA22960;EAW69603;EAW69604;NP_003379;NP_115797;Q9UDT6 Hs.647018 1669419;1712168;1790421;2129542;2146101;2149727;5037592 D7S3020E;D7S3282;G54134;GDB:1317584;GDB:1317824;GDB:1318204;GDB:4584934 CLIP;CLIP-115;CYLN2;KIAA0291;MGC11333;WBSCR3;WBSCR4;WSCR3;WSCR4 CAP-Gly domain-containing linker protein 2;OTTHUMP00000160723;OTTHUMP00000160724;Williams-Beuren syndrome chromosome region 3;Williams-Beuren syndrome chromosome region 4;cytoplasmic linker 2;cytoplasmic linker protein 115;cytoplasmic linker protein 2;williams-Beuren syndrome chromosomal region 3 protein;williams-Beuren syndrome chromosomal region 4 protein APPROVED protein-coding ENSG00000106665 2586 09140 603432 REVIEWED 69221 CLIP1 CAP-GLY domain containing linker protein 1 The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 q24.3 121321934 121473069 - 122755981 122907116 - 1580863;6480464;6484113 15928712;10052454;11940666;1356075;1600942;19126680;19020519;19004523;18622020;18237546;17889670;17828277;17563362;17081983;16964243;16772339;16574066;16565220;16362039;16120651;16083285;15862147;15345747;15302935;14702039;12833147;12789661;12477932;12433698;12231510;12110184;11966772;11290329;9784600;8222754;7983157;15572129;20664522;16455083;19687009;15262990;22863883;22119847;8889548;18029348;22424550;15840729;17828275;20360068;21139048;21989536;12885786;22543185 6249 B3KXA5;F5H0N7;F5H1T5;F5H270;F5H367;F5H6A0;F5H6H4;F6VGP8;J3KP58;P30622 AB209115;ABBA01060470;ABBA01060471;ABBA01060472;ABBA01060473;AC048338;AC079406;AC093016;AC127002;AF045652;AF045653;AK123769;AK126990;AMYH01004825;AY563000;BC039081;BC047895;BC062543;BC114213;BC117209;BC126305;BM998166;CB305431;CH471054;M97501;NG_030352;NM_001247997;NM_002956;NM_198240;X64838 AAA35693;AAC03549;AAC03550;AAH47895;AAH62543;AAI14214;AAI17210;AAI26306;AAS75590;BAD92352;BAG54417;CAA46050;EAW98320;EAW98321;EAW98322;EAW98323;NP_001234926;NP_002947;NP_937883;P30622 Hs.524809 1674790;1704072;1720781;1736212;1736224;1736234;1746433;1854908;2106757;2106759;2106761;2118383;2124065;2149950;2187641 D12S1158E;D12S1167E;D12S1172E;D12S1321;D12S1902;G29081;G59364;G64573;GC04S12;GC04S14;GC04S1920;RH45231;SHGC-83339;STS-X64838;WI-14983 CLIP;CLIP-170;CLIP170;CYLN1;MGC131604;RSN CAP-Gly domain-containing linker protein 1;OTTHUMP00000239757;OTTHUMP00000239758;OTTHUMP00000239759;OTTHUMP00000239761;Reed-Steinberg cell-expressed intermediate filament-associated protein;cytoplasmic linker 1;cytoplasmic linker protein 1;cytoplasmic linker protein 170 alpha-2;cytoplasmic linker protein CLIP-170;reed-Sternberg intermediate filament-associated protein;restin;restin (Reed-Steinberg cell-expressed intermediate filament-associated protein) APPROVED protein-coding ENSG00000130779 10461 01568 179838 REVIEWED 1602726 CLINT1 clathrin interactor 1 This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 5 5 q33.3 157145875 157218746 - 157212751 157286183 - 6480464 14675752;10942595;18929466;18696005;18033301;17081983;16402136;15793701;15489334;15371541;15324660;15068792;14702039;17506864;21145461;12538641;12477932;12429846;12213833;8724849;12589059;15342556;11031247;11252894;17116749;19615732;20379614;20398908;20562859;22863883;22939629;21987572;22118674;16196087;15840729;20360068;21116212;12858162;19322201;21628590;21139048;21890473;21906983;21963094;19380743;22505724 9685 H0YCL3;H0YD52;H0YDU9;Q14677 ABBA01044263;AC011394;AC026407;AF434813;AK092765;AK128594;AK300257;AL529948;AL833548;AMYH01015748;BC004467;BC013091;BC030264;BI461076;BK000414;BP246338;CH471062;D79993;NG_027820;NM_001195555;NM_001195556;NM_014666 AAH04467;AAH13091;AAL30768;BAA11488;BAC03971;BAH13244;DAA00062;EAW61585;EAW61586;EAW61587;EAW61588;NP_001182484;NP_001182485;NP_055481;Q14677 Hs.644000 1644224;1672267;1690864;1691306;1735540;1791278;1791280;2148345;2190583;5017701;5022578;5109663 CLINT1;D1S1423;D5S1669E;D5S1853;D7S2067E;EST8G9;MARC_9843-9844:996688654:1;MARC_9845-9846:996688657:1;RH25388;RH65700;RH98311;WI-11894 CLINT;ENTH;EPN4;EPNR;EPSINR;FLJ46753;KIAA0171 OTTHUMP00000224197;OTTHUMP00000224198;OTTHUMP00000224199;OTTHUMP00000229827;clathrin interacting protein localized in the trans-Golgi region;clathrin interactor 1;clathrin-interacting protein localized in the trans-Golgi region;enthoprotin;epsin 4;epsin-4;epsin-related protein;epsinR APPROVED protein-coding ENSG00000113282 23186 06273 607265 REVIEWED 1603664 CLIP3 CAP-GLY domain containing linker protein 3 This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 19 19 19 q13.12 33219743 33237958 - 41197403 41215615 - 36505562 36523797 - 6480464 15489334;15262990;14702039;12477932;11854307;16344560;19139280;20052288;22297296;21139048;22318606;22505724 25999 K7ELD3;K7ESF3;Q96DZ5 ABBA01018777;AC002116;AJ427922;AK056445;AK090732;AK092354;AK094738;AK289509;AK294748;AL117468;AMYH01009737;AMYH01009738;BC013116;BC014486;BC128090;DA398172;DA406432;HI574094;NM_001199570;NM_015526 AAH13116;AAH14486;BAF82198;BAG52221;BAG52536;BAG52921;BAG57888;CAB55943;CAD20873;CBX47536;NP_001186499;NP_056341;Q96DZ5 Hs.466539 2110321;2153649;2161210;2169509 CLIPR-59__4586;D19S673E;RH12731;WI-15016 CLIPR-59;CLIPR59;DKFZp586N1922;FLJ33413;RSNL1 CAP-Gly domain-containing linker protein 3;CLIP-170-related 59 kDa protein;CLIP-170-related protein;cytoplasmic linker protein 170-related 59 kDa protein;restin-like 1 APPROVED protein-coding ENSG00000105270 24314 09572 607382 REVIEWED 1602256 CLLU1 chronic lymphocytic leukemia up-regulated 1 12 12 12 q22 92486543 92496012 + 91341866 91348861 + 92815307 92824778 + 19212335;17786715;17284524;16529606;16339396;18457263;19726446;21323738;22738889 574028 Q5K131 ABBA01053394;AC063949;AJ845162;AJ845163;AJ845164;AJ845165;AJ845166;AJ845167;AMYH01004656;GM041586;NM_001025233;NR_027932;NR_027933 AAI40253;AAI46526;CAH61080;CAH61081;CAS97697;NP_001020404;Q5K131 Hs.730377 5022578;5022651;5118444 D11S2921;D11S3316;D1S1423 OTTHUMP00000220954;chronic lymphocytic leukemia up-regulated protein 1 protein-coding ENSG00000257127 29841 PROVISIONAL 1604877 CLLU1OS chronic lymphocytic leukemia up-regulated 1 opposite strand 12 12 12 q22 92485106 92493158 - 91338001 91346055 - 92813870 92821924 - 16339396 574016 Q5K130 ABBA01053394;AC063949;AJ845168;AMYH01004656;NM_001025232 AAI48494;AAI53087;CAH61082;NP_001020403;Q5K130 Hs.551199 OTTHUMP00000220955;chronic lymphocytic leukemia up-regulated 1 overlapping strand;putative chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein protein-coding ENSG00000205057 24070 PROVISIONAL 1322944 CLK1 CDC-like kinase 1 This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 2 2 q33 201425978 201437667 - 201717732 201729467 - 1580863;6480464 16009940;1825055;1704889;19168442;18978788;18814951;17081983;16344560;16223727;15010457;14759258;12773558;12705895;12565863;12549978;12477932;11461155;11418604;10954422;10480872;9856501;8798720;8617202;7990150;12890497;8973360;11579209;15324660;15383276;16169070;21682887;21139048 1195 B8ZZR0;F8WBF5;P49759 ABBA01062522;AC005037;AI251890;AK025306;AK289365;AK294295;AK307301;AK316127;AMYH01011400;BC028149;BC028573;BC031549;BE241788;CH471063;DA225472;DB164846;FB775550;L29219;L29222;M59287;NM_001162407;NM_004071;NR_027855;NR_027856 AAA61480;AAB59459;AAH28149;AAH31549;AAY14722;BAF82054;BAG57578;BAH14498;CAV30732;EAW70215;EAW70216;EAW70217;EAW70218;EAW70219;NP_001155879;NP_004062;P49759 Hs.433732 1683922;1688211;5022578 D1S1423;RH80114;RH80225 CLK;CLK/STY;STY CDC28/CDC2-like kinase;OTTHUMP00000163673;OTTHUMP00000206164;OTTHUMP00000206165;OTTHUMP00000206166;dual specificity protein kinase CLK1;protein tyrosine kinase STY APPROVED protein-coding ENSG00000013441 2068 09058 265050;601951 REVIEWED 1345997 CLK2P CDC-like kinase 2, pseudogene 7 7 7 p15.3 23613110 23614921 - 23591037 23592688 - 23624335 23626146 - 12690205;12477932;9856501;7990150 1197 AACC02000007;ABBA01056713;AC006026;AMYH01017116;BC022025;CH236948;NR_002711 EAL24254;EAL24255 Hs.632635 1678651;2175184 D7S2838;RH69036 pseudo 2070 VALIDATED 1350291 CLM cutis laxa with marfanoid phenotype 2704655 1199 2072 1350068 CLIP4 CAP-GLY domain containing linker protein family, member 4 2 2 2 p23.2 29182715 29251081 + 29191822 29260180 + 29338308 29406679 + 6480464 15489334;14702039;12477932;21832049;21139048 79745 A8K6D0;B5MCH3;C9IYE4;E7EW06;E9PBB1;G3XAK3;Q8N3C7 AB209042;ABBA01045244;AC093593;AC105398;AF433661;AI433385;AK023505;AK024722;AK057267;AK225074;AK291595;AK302325;AK304384;AL601363;AL834443;AMYH01010209;BC013862;BC015310;BC107760;BC126167;BC136331;BQ025066;CH471053;NM_024692 AAH15310;AAI26168;AAI36332;AAP97312;AAX88898;AAY24165;ADR83093;BAB14974;BAB71403;BAD92279;BAF84284;BAH13674;BAH14172;CAD39103;EAX00509;EAX00510;EAX00511;EAX00512;EAX00513;EAX00514;EAX00515;NP_078968;Q8N3C7 Hs.122927 1683753;1709096;1728471;1856330;2162697 D2S2934;G63673;RH92262;SHGC-85703;WI-11551 FLJ21069;FLJ32705;RSNL2 CAP-Gly domain-containing linker protein 4;OTTHUMP00000123516;OTTHUMP00000201012;OTTHUMP00000201013;OTTHUMP00000201014;OTTHUMP00000201016;restin-like 2;restin-like protein 2 protein-coding ENSG00000115295 26108 08634 VALIDATED 1347877 CLN4 ceroid-lipofuscinosis, neuronal 4 (Kufs disease) 1202 2075 1343354 CLK2 CDC-like kinase 2 This gene encodes a member of the CLK family of dual specificity protein kinases. CLK family members have been shown to interact with, and phosphorylate, serine- and arginine-rich (SR) proteins of the spliceosomal complex, which is a part of the regulatory mechanism that enables the SR proteins to control RNA splicing. Note that this gene is distinct from TELO2 gene (GeneID:9894), which shares CLK2 and hCLK2 symbol aliases in common with this gene, but encodes a protein that is involved in telomere length regulation. [provided by RefSeq, Jul 2008] 1 1 q21 153499283 153509905 - 155232659 155243281 - 1580863;6480464 7990150;19168442;19097996;18978788;16344560;16189514;15489334;15324660;14759258;14702039;12477932;11579209;11285245;10480872;9856501;9852100;9758629;9637771;9331372;8910305;12705895;20064461;20682768;18995830;19282290;17384638;21682887;22797300 1196 B1AVT0;P49760;Q9BRG8 ABBA01016711;AF023268;AK091036;AK291995;AK303696;AL713999;AMYH01001427;AU136826;BC006274;BC014067;BC053603;BI562223;CH471121;L29216;L29218;NM_003993 AAA61481;AAA61482;AAC51817;AAH06274;AAH14067;AAH53603;BAF84684;BAG52265;BAH14022;EAW53087;EAW53088;EAW53089;NP_003984;P49760 Hs.73986 1678651;2107939;2175184 CLK2_8263;D7S2838;RH69036 MGC61500;hCLK2 CLK kinase;OTTHUMP00000034063;OTTHUMP00000034064;OTTHUMP00000034065;dual specificity protein kinase CLK2 APPROVED protein-coding ENSG00000176444 2069 04289 602989 REVIEWED 1315879 CLN5 ceroid-lipofuscinosis, neuronal 5 This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008] 13 13 q21.1-q32 76462796 76474653 + 77566059 77576652 + 1580863;6480464;7240710 12134079;10992246;11722572;10740217;9662406;19201763;19174516;17607606;16814585;15728307;14997939;12125809;11971870;10477428;8661106;7942847;193610;17353931;20052765;19309691;19941651;20157158;16399764;21890473;21906983;20467438;23160995;20301601;22431521;23464991 1203 B4E1V6;O75503 ABBA01021659;AC001226;AF068227;AK075109;AK304001;AMYH01005222;CH471093;NG_009064;NM_006493 AAC27614;AAI46275;AAI53155;AAI72583;BAG52069;BAG64918;EAW80561;EAW80562;NP_006484;O75503 Hs.30213 1776881;1782968;2128458;2152818;2180758;5093176;5094987 A009I22;CLN5;G32564;RH44829;RH46145;SHGC-56376;STS-H96517 FLJ90628;NCL OTTHUMP00000018521;ceroid-lipofuscinosis neuronal protein 5 APPROVED protein-coding 2076 07619 256731;608102 REVIEWED 1343617 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant 7240710 1206 2078 610951 1321078 CLK4 CDC-like kinase 4 The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008] 5 5 5 q35 173657123 173681183 - 177962271 177986660 - 178029665 178054054 - 1580863;6480464 19168442;17081983;12824502;12705895;12477932;12169693;11170754;16712791;21555454 57396 E7ES88;E7EWJ6;Q68D95;Q6P090;Q9HAZ1 ABBA01010003;AC022096;AF294429;AK304614;AK308674;AK308879;AK310427;AK311485;AMYH01015945;BC015942;BC034633;BC046211;BC063116;BC065732;BC136261;BC143538;BC143547;BC151233;BX647323;CB127989;CH471165;CR749504;NM_020666 AAG10074;AAH34633;AAH65732;AAI36262;AAI43548;BAH14226;CAH18325;EAW53831;EAW53832;NP_065717;Q9HAZ1 Hs.406557 1645462 WI-18382 DKFZp686A20267 OTTHUMP00000161494;dual specificity protein kinase CLK4;protein serine threonine kinase Clk4 APPROVED protein-coding ENSG00000113240 13659 12140 607969 REVIEWED 1315532 CLMN calmin (calponin-like, transmembrane) 14 14 14 q32.13 75704392 75842388 - 94727618 94855955 - 95648276 95786245 - 1580863;6480464 14702039;12508121;12477932;11386753;10574461;16712791;20339536;9455484;20195266;23080069;22747683;23535033 79789 G3V3D8;G3V4C0;G3V5E0;G3V5U3;Q6NUQ2;Q96JQ2 AB007969;AB033014;AB047979;ABBA01030403;AK022279;AK023828;AK025226;AK125038;AK314315;AL117187;AL117526;AL356017;AMYH01005973;BC014554;BC025251;BC032699;BC040108;BC049365;BC068482;CB155696;CH471061;NM_024734 AAH14554;AAH25251;AAH32699;AAH68482;BAA86502;BAB13999;BAB15087;BAB59010;BAG36964;BAG51227;CAB55978;EAW81597;EAW81598;NP_079010;Q96JQ2 Hs.301478 1336123;1674242;1677674;1682219;1693668;7184455 D14S265;RH46343;RH92858;SHGC-58595;WI-11595 FLJ12383;FLJ43048;KIAA0500;KIAA1188 OTTHUMP00000246617;calmin;calponin like transmembrane domain protein;calponin-like transmembrane domain protein protein-coding 19972 13076 611121 VALIDATED 1602686 CLMP CXADR-like membrane protein The CTX (see VSIG2, MIM 606011) family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion (Raschperger et al., 2004 [PubMed 14573622]).[supplied by OMIM, Mar 2008] 11 11 11 q24.1 120102350 120225315 - 122448230 122571217 - 122943020 123066007 - 6480464 17538635;18029348;15563274;14573622;12975309;12851705;12477932;12107410;20379614;17207965;22992863;22155368;21982860;22718816 79827 Q9H6B4 ABBA01031275;ABBA01031276;AK026068;AK304843;AMYH01004098;AMYH01004099;AMYH01004100;AP000926;AP001970;AY326422;AY358340;BC009371;BE272517;BG723094;BK001245;CA395814;CH471065;CQ802458;NM_024769 AAH09371;AAP88386;AAQ88706;ADQ32343;BAB15347;BAG65585;CAG28887;DAA01139;EAW67543;EAW67544;EAW67545;NP_079045;Q9H6B4 Hs.591949 1645326;1737099 D11S1210;D11S2864 ACAM;ASAM;CSBM;CSBS;FLJ22415 CAR-like membrane protein;CXADR-like membrane protein;OTTHUMP00000231761;adipocyte adhesion molecule;adipocyte-specific adhesion molecule;coxsackie- and adenovirus receptor-like membrane protein 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000166250 24039 16513 611693;615237 VALIDATED 1351774 CLNS1AP1 chloride channel, nucleotide-sensitive, 1A pseudogene 1 6 6 6 p12-q13 56011502 56012855 - 54457177 54458695 - 54349297 54350651 - 9524223;8975725 1204 ABBA01050516;AL031885;AMYH01016361;NG_002905 CLNS1B;ICln APPROVED pseudo 2081 INFERRED 733625 CLK3 CDC-like kinase 3 This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008] 15 15 15 q24 51850648 51872477 + 72687766 72709511 + 74900713 74922542 + 1580863;6480464 7990150;19168442;17192257;17081983;16189514;15489334;15324660;14759258;14702039;12477932;9856501;9637771;8889548;8125298;19426592;20811636;17000644;21832049;22318606;19953087;21906983;21044950;18029348 1198 B3KRI8;G5E959;H3BNC8;H3BNQ5;H3BQG1;H3BQR7;H3BRE4;H3BRK0;H3BRT8;H3BRW2;H3BTW9;H3BUL5;H3BV35;H3BVF8;P49761 AB209535;ABBA01060496;AC100835;AK026511;AK091692;AK096115;AK097982;AK122860;AK225680;AK291983;AK293769;AK301689;AL833165;AMYH01006794;BC002555;BC006103;BC009857;BC019881;BI459843;BM678884;BQ183959;BT006993;CH471136;CR933693;L29217;L29220;NM_001130028;NM_003992 AAA61483;AAA61484;AAH02555;AAH06103;AAH19881;AAP35639;ADZ15416;BAD92772;BAF84672;BAG52400;BAG53214;BAG53559;BAG53765;BAG57185;BAG63161;EAW99320;EAW99321;EAW99322;EAW99323;EAW99324;EAW99325;NP_001123500;NP_003983;P49761 Hs.584748 1681418;1689855;1707356;2109163 CLK3_8264;RH80794;RH93055;SHGC-79300 FLJ22858;PHCLK3;PHCLK3/152 OTTHUMP00000180678;OTTHUMP00000233457;dual specificity protein kinase CLK3 APPROVED protein-coding ENSG00000179335 2071 04290 602990 REVIEWED 1605010 CLNK cytokine-dependent hematopoietic cell linker MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008] 4 4 4 p16.1 10956589 11151166 - 10100934 10295587 - 10491838 10686386 - 6480464 10744659;18987618;14702039;12477932;11463797;10562326;22561518;20379614 116449 D6RJB9;Q7Z7G1 AB032369;AB110420;ABBA01032521;ABBA01032522;ABBA01032523;AC005599;AC084048;AK093001;AMYH01013998;BC029887;BC137553;BC137556;CH471069;NM_052964 AAH29887;AAI37554;AAI37557;BAA96241;BAC76765;BAG52635;EAW92693;NP_443196;Q7Z7G1 Hs.678910 1337177;1695186;1719133;1776397;1847544;2181306;2182362;2189177;5022322;5109281 AFMA184ZA9;D11S2560;D1S1425;D4S1214;D4S2928;D4S558;G48234;G65115;RH123284;SHGC-50469 MGC35197;MIST OTTHUMP00000217414;cytokine-dependent hematopoietic cell linker;mast cell immunoreceptor signal transducer APPROVED protein-coding 17438 14720 611434 VALIDATED 1320201 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008] 15 15 q23 66286384 66309079 - 68499330 68522080 - 1358512;1580863;6480464;7240710 11791207 15010453;21549341;16857350;11722572;10740217;15265688;11727201;19520283;19201763;19135028;18811591;17453415;17081983;16303743;15996215;15489334;15146197;14702039;12815591;12673792;12477932;9097964;20020536;21359198;22883287;23455922;21987572;19235893;21139048;20301601;23377640;22190034 54982 B4DDH6;E7ESV1;H3BNF1;H3BTY4;H3BUT1;H3BUV4;Q9NWW5 ABBA01038785;AC107871;AK000568;AK027604;AK074753;AK124013;AK291175;AK293155;AK293197;AMYH01006736;BC010849;BC013130;BM149330;CA446197;CH471082;CN427564;CR457244;NG_008764;NM_017882 AAH10849;AAH13130;ABM82406;ABW03399;BAA91260;BAB55226;BAC11181;BAF83864;BAG56700;BAG56737;CAG33525;EAW77811;EAW77812;EAW77813;EAW77814;EAW77815;EAW77816;NP_060352;Q9NWW5 Hs.584921 2109165;2152602;2161399;5022200;5022578 CLN6_9860;D1S1423;L18426;STS-W81097;WI-11786 CLN4A;FLJ20561;HsT18960;nclf OTTHUMP00000164387;ceroid-lipofuscinosis neuronal protein 6 APPROVED protein-coding ENSG00000128973 2077 05991 204300;601780;606725 REVIEWED 1345435 CLN3 ceroid-lipofuscinosis, neuronal 3 This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p12.1 28396101 28411124 - 28488600 28503623 - 1598669;1580863;6480464;7240710 15240864 15471887;10191111;10191116;12706816;10191112;12134079;10332042;11590129;19028667;18817525;18678598;18552385;18317235;18265413;17947292;17896996;17868323;17482562;17286803;17081983;16714284;16515873;16344560;16291725;16087292;15657902;15598649;15489334;15469932;15302935;15240430;15032383;14759258;14702039;14699076;14660799;14622109;12477932;12440525;12189165;12125809;11699874;11375929;10509355;10493829;10191115;9490299;9450775;10740217;9384607;9311735;8980123;10924275;16251196;11722572;9949212;9119403;9004140;7887420;7553855;2271648;19299465;19489875;19915574;20015955;20187884;20562859;21102463;20933060;21359198;17189291;23464991;20875858;20972266;21139048;21890473;21906983;21963094;21987636;22261744;19322201;20301601;22053931 1201 B4DFF3;B4DMY6;B4DXL3;H3BMN4;H3BNK7;H3BPL0;H3BPM8;H3BQ08;H3BQ48;H3BR84;H3BRU8;H3BUF8;O95090;Q2TA70;Q9UBD8;Q9UBH5;Q9UP13 ABBA01043652;ABBA01043653;AC002425;AC002544;AC138894;AF015593;AF015594;AF015595;AF015596;AF015597;AF015598;AF015599;AF015600;AF015601;AF015602;AF077956;AF077957;AF077958;AF077959;AF077960;AF077961;AF077962;AF077963;AF077964;AF077965;AF077966;AF077967;AF077968;AF077969;AF077970;AF077971;AF077972;AF077973;AF078168;AF078169;AI138575;AK090709;AK294070;AK294250;AK295500;AK297690;AK302027;AK302138;AK313002;AMYH01007433;AU105965;BC002394;BC004433;BC111068;BK001540;CH471279;CQ834698;DA552461;DA869025;DB101039;EF587244;EF587245;NG_008654;NM_000086;NM_001042432;U32680;X99832 AAB51075;AAC05337;AAC27430;AAD01555;AAD01556;AAD01557;AAD01558;AAD01559;AAD01560;AAD01561;AAD01562;AAD01563;AAD01564;AAD48542;AAD48543;AAD51478;AAD51479;AAD51480;AAD51481;AAD51482;AAD51483;AAD51484;AAD51485;AAD51486;AAD51487;AAD51488;AAD51489;AAD51490;AAD51491;AAD51492;AAD51493;AAD51494;AAD51495;AAH02394;AAH04433;AAI11069;ABW04812;ABW04813;BAG35838;BAG57414;BAG57546;BAG58420;BAG60048;BAG63425;BAG63512;CAA68148;CAH05564;DAA02067;EAW52281;EAW52282;EAW52283;EAW52284;EAW52285;EAW52286;EAW52287;EAW52288;EAW52289;EAW52290;EAW52291;EAW52292;EAW52293;EAW52294;EAW52295;EAW52296;EAW52297;EAW52298;EAW52299;NP_000077;NP_001035897;Q13286 Hs.534667 1340798;1667490;1687748;1737579;2136846;2191665;5022578;5022830;7185264 CLN3_s13;D16S2668;D16S298;D16S3081;D16S3212;D1S1423;MARC_4175-4176:996679465:3;RH70509 BATTENIN;BTS;JNCL;MGC102840 OTTHUMP00000122517;batten disease protein;battenin APPROVED protein-coding ENSG00000188603 2074 08450 204200;607042 REVIEWED 1346223 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008] 8 8 p23 1699277 1722143 + 1711870 1734736 + 1580863;6480464;7240710 14702039;12151215;16086686;10508524;10861296;19201763;17129765;16344560;15489334;15024724;12477932;10740217;8743986;11073227;14508709;19431184;19807737;23142642;23160995;22388998;20301601;22964447 2055 Q9UBY8 ABBA01016744;ABBA01016745;AC100810;AF123757;AF123758;AF123759;AF123760;AF123761;AK096736;AK312486;AMYH01018278;AW296697;BC007725;BC136825;BT007049;CH471181;CS072298;DA193710;NG_008656;NM_018941 AAF13115;AAF13116;AAF13117;AAF13118;AAF13119;AAH07725;AAI36826;AAP35698;BAC04854;CAI93436;EAW51477;EAW51478;EAW51479;NP_061764;Q9UBY8 Hs.127675 1648037;1655970;1764989;5016851;5120437 AFM265wb5;GDB:315881;RH47694;RH80031;SHGC-148543 C8orf61;EPMR;FLJ39417 OTTHUMP00000115401;protein CLN8;putative uncharacterized protein C8orf61 APPROVED protein-coding ENSG00000182372 2079 06383 600143;607837;610003 REVIEWED 732210 CLNS1A chloride channel, nucleotide-sensitive, 1A This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. [provided by RefSeq, Feb 2009] 11 11 q13.5-q14 77004847 77026495 - 77327196 77348851 - 1580863;6480464 9359436;15130578;7887970;8579598;17081983;16734741;16368544;16344560;16087681;16033995;15905169;15489334;15075326;14960305;12477932;11756452;11747828;11713266;10825435;10330151;9694734;9556550;9533029;8975725;16169070;19615732;20379614;19520849;21081503;18984161;22863883;20462248;23084401;23184937;22939629;19167051;21917931;17620599;21139048;21890473;21906983;22053931;22797925 1207 E9PJF4;E9PMI6;E9PQ83;H0YEN9;J3KN38;P54105 AA757599;ABBA01017425;ABBA01017426;AF005422;AF026003;AF232224;AF232225;AF232708;AK315259;AMYH01003825;AP000609;BC119634;BC119635;BT019907;CH471076;DA004269;NM_001293;U17899;U53454;X91788 AAB03316;AAB61444;AAB88806;AAC50111;AAF76858;AAF76859;AAF76861;AAI19635;AAI19636;AAV38710;BAG37676;CAA62902;EAW75032;NP_001284;P54105 Hs.430733 1681614;1778790;1849640;2111356;2136268;2155262;2167092;2218386;5121312 A006P03;CLNS1A_4589;D11S2225E;RH12124;RH15619;SHGC-31540;SHGC-3577;WI-20222;WI-22335 CLCI;CLNS1B;ICln OTTHUMP00000228612;OTTHUMP00000228613;OTTHUMP00000228614;OTTHUMP00000228843;OTTHUMP00000228845;chloride channel regulatory protein;chloride channel, nucleotide sensitive 1A;chloride conductance regulatory protein ICln;chloride ion current inducer protein;i(Cln);methylosome subunit pICln;reticulocyte pICln;reticulocyte protein ICln APPROVED protein-coding ENSG00000074201 2080 03694 602158 REVIEWED 1348034 CLOCK clock circadian regulator This gene product regulates circadian rhythm and metabolism. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and a DNA binding histone acetyltransferase. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 4 4 q12 55993417 56107754 - 56294068 56413076 - 1580863;6480464 10198158;9576906;18029348;19470168;19347611;19328558;19296127;19224106;18974966;18957941;18587630;18541547;18458078;18430226;18419323;18411297;18379422;18314271;18283403;18228528;18071340;17994337;17948273;17848551;17701674;17696255;17551301;17516548;17469042;17428266;17364575;17264841;17239050;17221848;17116390;17106427;16528748;16474406;16232160;16125818;16024980;15952199;15917222;15905809;15578592;15572273;15489334;15475734;15331141;14750904;14701732;14582141;12898572;12897057;12841365;12477932;12464098;11927173;11927136;11511917;11337377;11018023;10973243;10864977;9989497;9779516;9205841;8125298;14701734;11439184;14645221;19505873;22318606;22537959;21479263;22905804;23221812;21050724;19913121;20554694;20560707;20600471;20628086;20653450;20704703;19605937;19693801;19714310;19839995;19846548;19874574;19888304;19934327;19946213;20065968;20072116;20081528;20124474;20149345;20174623;20180986;20364331;20368993;20370469;20396431;20551151;19967263;18662547;20861012;21123577;20886252;20961464;20978934;20876123;21734043;21164265;23129285;22709985;23003921;21386998;21463335;22806005;23033538;21628555;22193177;21980503;19922678;21773969;22284746;22578325;21714069;22003994;22232930;21906983;22080789;14702039;16344560;16678094;23242607;23131019;23584858;23546644;23667531;21898035;22999556;22823872;23357097 9575 C9JK03;O15516;Q3ZCT4;Q53EU0 AB002332;AB005535;AB059556;AB061682;ABBA01003412;ABBA01003413;ABBA01003414;AC024243;AC069200;AC110372;AF011568;AF260318;AK096319;AK124437;AK223549;AK291708;AMYH01014190;AMYH01014191;BC040570;BC041878;BC126157;BC126159;BX537616;BX538337;CH471057;DA658950;EF015897;NM_001267843;NM_004898 AAB83969;AAF70307;AAH41878;AAI26158;AAI26160;ABM64208;ABZ92219;ADR83421;BAA20792;BAA21774;BAB88852;BAB92020;BAD97269;BAF84397;EAX05468;NP_001254772;NP_004889;O15516 Hs.436975;Hs.689578 1643666;1662234;1662442;1712200;1716243;1752123;2118289;2154480;5023545 G16718;G54151;PMC55343P8;RH121148;SHGC-106039;SHGC-50712;SHGC-59220;SHGC-67841;STS-R80639 KAT13D;KIAA0334;bHLHe8 OTTHUMP00000128334;OTTHUMP00000196798;OTTHUMP00000218844;circadian locomoter output cycles kaput protein;circadian locomoter output cycles protein kaput;class E basic helix-loop-helix protein 8;clock homolog APPROVED protein-coding ENSG00000134852 2082 03508 601851 REVIEWED 1605196 CLPSL2 colipase-like 2 6 6 6 p21.31 37298966 37301904 + 35852370 35855307 + 35744392 35747329 + 6480464 15340161;12975309 389383 Q6UWE3 ABBA01038242;AL157823;AMYH01016268;AW665167;AY358823;CD513822;CH471081;NM_207409 AAI72344;AAQ89182;EAX03847;EAX03848;NP_997292;Q6UWE3 Hs.259563 C6orf126;UNQ3045;dJ510O8.5 AAAL3045;OTTHUMP00000016272;OTTHUMP00000198205;colipase-like protein 2;colipase-like protein C6orf126;hypothetical protein LOC389383 APPROVED protein-coding ENSG00000196748 21250 15616 VALIDATED 1602724 CLP1 cleavage and polyadenylation factor I subunit 1 11 11 11 q12 54781701 54785822 + 57181206 57185913 + 57425216 57429337 + 6480464;6907045 17495927;8896421;12226669;18648070;16344560;15489334;15109492;12477932;11060040;21832049;20360068;19471022;21139048;21906983;21963094;11384994 10978 E9PJM4;E9PKV5;E9PL17;Q92989 ABBA01021475;AK300232;AK313007;AMYH01003652;AP000662;BC000446;CH471076;DA922553;FB570265;FB718183;NM_001142597;NM_006831;U73524 AAC50780;AAH00446;BAG35843;BAG62000;CAR94986;CAS91776;EAW73770;NP_001136069;NP_006822;Q92989 Hs.523687 1683138;2148140 RH70702;RH80129 HEAB;hClp1 ATP/GTP-binding protein;CLP1, cleavage and polyadenylation factor I subunit, homolog;OTTHUMP00000235349;OTTHUMP00000235351;OTTHUMP00000235352;homolog of yeast CFIA subunit Clp1p;polyadenylation factor Clp1;polynucleotide kinase Clp1;polyribonucleotide 5'-hydroxyl-kinase Clp1;pre-mRNA cleavage complex II protein Clp1 APPROVED protein-coding ENSG00000172409 16999 16382 608757 VALIDATED 731315 CLPB ClpB caseinolytic peptidase B homolog (E. coli) 11 11 11 q13.4 69304879 69446914 - 71681117 71823216 - 72003469 72145724 - 6480464 21145461;2745427;18488042;15489334;15231748;14702039;12927788;12477932;11230166;7835694;19615732;19698713;20877624;20811636 81570 B4DXW4;F5GX99;F5H392;F5H7A5;H0YFF5;H0YG50;H0YGM0;Q7Z777;Q9H078 ABBA01017537;ABBA01017538;AK023214;AK302006;AK302069;AK302158;AL136909;AL834484;AMYH01003794;AP000593;AP002892;AP003785;BC006257;BC006404;BU848809;CH471076;DC396265;NM_001258392;NM_001258393;NM_001258394;NM_030813 AAH06257;AAH06404;ABW03573;ABW03886;BAB14467;BAG63409;BAG63459;BAG63526;CAB66843;CAD39142;EAW74858;EAW74859;EAW74860;NP_001245321;NP_001245322;NP_001245323;NP_110440;Q9H078 Hs.523877 1701478;1706192;1738199;1761245;1782260;1787812;2123652;2135374;2168214;2191753;5105383;7186071 A008U48;D11S3830;D11S490;MARC_6997-6998:996689895:1;RH104371;SHGC-111311;SHGC-112018;SHGC-145253;SHGC-173269;SHGC-57720;SHGC-80623;STS-Z40910 FLJ13152;HSP78;SKD3 OTTHUMP00000237215;OTTHUMP00000237216;OTTHUMP00000237217;OTTHUMP00000237218;OTTHUMP00000237219;OTTHUMP00000237221;caseinolytic peptidase B protein homolog;suppressor of potassium transport defect 3 protein-coding ENSG00000162129 30664 11560 VALIDATED 1604478 CLPSL1 colipase-like 1 6 6 6 p21.31 37303406 37310419 + 35856809 35863819 + 35748831 35755841 + 18390568;16344560;12477932 340204 A2RUU4;F6TG72;Q5T9G0 ABBA01038242;AI018488;AL157823;AMYH01016268;BC133046;BC137392;BC150543;BC150544;BX106742;CH471081;DQ823638;NM_001010886 A2RUU4;AAI33047;AAI37393;AAI50544;AAI50545;ABK41022;EAX03849;NP_001010886 Hs.131296 C6orf127;ESP32;dJ510O8.6 OTTHUMP00000016273;colipase B-like;colipase-like protein 1;colipase-like protein C6orf127;hypothetical protein LOC340204 APPROVED protein-coding ENSG00000204140 21251 17356 PROVISIONAL 1603592 CLRN1-AS1 CLRN1 antisense RNA 1 3 3 3 q25.1 149103342 149210433 + 150690465 150797617 + 150690465 150797617 + 14702039;11524702;20717163;23382691 116933 ABBA01058914;ABBA01058915;ABBA01058916;ABBA01058917;AC020636;AC108726;AF388367;AK126442;AMYH01013579;NR_024066 Hs.570680 1339775;1665452;1729367;1729411;5015619;5037552;7186204 D11S3114;D3S1315;D8S2279;G54345;G54372;WI-17533 CLRN1OS;UCRP APPROVED pseudo ENSG00000239265 30895 PROVISIONAL 731525 CLPS colipase, pancreatic The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 p21.31 35870738 35873080 - 35762759 35765121 - 1580863;2314627;2314624;2314626;6480464 16189801;19577003;18726866 8479519;6691986;2337598;2045105;1643046;1522902;17715423;15489334;15287741;12598038;12477932;11278590;11099794;10570245;9240923;23204298;20054203;10769148;15583024;15342556;18051367 1208 P04118 ABBA01038242;AL157823;AMYH01016268;AY780648;AY780649;BC007061;BC017897;BC025693;BC043489;BI439786;BP321569;BP322637;BP324927;BQ271978;BT006812;CH471081;J02883;M95529;NM_001252597;NM_001252598;NM_001832 AAA52054;AAB05818;AAH07061;AAH17897;AAP35458;AAV35728;AAV35729;ADZ15980;EAX03850;EAX03851;NP_001239526;NP_001239527;NP_001823;P04118 Hs.1340 1768955;2137912;2141519 D6S2063;D6S2128;RH46790 OTTHUMP00000016271;colipase;pancreatic colipase preproprotein APPROVED protein-coding ENSG00000137392 2085 00356 120105 REVIEWED 1343928 CLPP ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6300249 6307702 + 6312463 6319915 + 6361463 6368915 + 1580863;6480464;7240710 8543061;11923310;16115876;18378094;15522782;15489334;12477932;10525407;9512494;18029348;20877624;21906983;21963094;23541340;23360988 8192 M0QXE9;M0QYV5;M0R208;Q16740 ABBA01055961;ABBA01055962;ABBA01055963;AC011491;AK311973;AMYH01009372;BC002956;BF339807;CH471139;EF036491;NM_006012;Z50853 AAH02956;ABM86749;ABO65077;ABW03819;BAG34912;CAA90705;EAW69103;NP_006003;Q16740 Hs.515092 1773792 SHGC-31644 PRLTS3 ATP-dependent protease ClpAP, proteolytic subunit, human;ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit;ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog;clpp caseinolytic protease, atp-dependent, proteolytic subunit homolog (e. coli);endopeptidase Clp;putative ATP-dependent Clp protease proteolytic subunit, mitochondrial APPROVED protein-coding ENSG00000125656 2084 03074 601119;614129 REVIEWED 1351955 CLS Coffin-Lowry syndrome 1210 2089 1312578 CLPX ClpX caseinolytic peptidase X homolog (E. coli) 15 15 15 q22.31 42320894 42355668 - 63229837 63264616 - 65442784 65477563 - 1580863;6480464 16115876;11923310;18063578;11003706;18313382;17353931;11230166;10347188;21145461;12477932;19615732;20877624;22710082;18029348;20186120;18457437;20360068;19380743;22841477 10845 H0YK07;H0YM48;O76031 ABBA01038860;ABBA01038861;AC013553;AC068213;AJ006267;AJ276980;AK292316;AK308133;AK310614;AL136922;AMYH01006716;AMYH01006717;BC130373;BC136487;BC144166;CH471082;NM_006660 AAI30374;AAI36488;BAF85005;CAA06933;CAB66856;CAC01291;EAW77715;EAW77716;NP_006651;O76031 Hs.113823 1856597;2110323;2122653;2126612;2127115;2151467;5093490 A004Z39;A009P37;CLPX__4590;G32749;RH77817;RH78776;STS-H79322 ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial;ClpX caseinolytic protease X homolog;OTTHUMP00000164179;clpx caseinolytic protease x homolog (e. coli);energy-dependent regulator of proteolysis protein-coding 2088 07478 PROVISIONAL 1605932 CLPTM1L CLPTM1-like 5 5 p15.33 1370999 1398002 - 1317999 1345002 - 6480464 19369581;19204726;19151717;18978790;18978787;14702039;12477932;11162647;22213090;20802237;20562859;19578363;19654303;19836008;19955392;20101243;20543847;20548021;21160077;20570912;20700438;21081471;20972438;23300716;21332924;21617256;23368278;22939629;21622582;21987572;21993562;21771723;21903422;22037553;22134622;21963094;21988832;23000965;23226346;21983787;22370939;21139048;21890473;21906983;22675468;22893025;23137523 81037 G5E9Z2;Q96KA5 AB045223;ABBA01034205;AC026748;AC114291;AK027306;AK057095;AK128462;AL137440;AL832953;AMYH01014857;BC016399;BC025305;BC040705;CH471102;CQ834660;NM_030782 AAH16399;AAH25305;ABM83073;ABM86269;BAB20083;BAB55030;BAG54680;CAH05545;CAH56333;EAX08161;EAX08162;EAX08163;EAX08164;NP_110409;Q96KA5 Hs.444673 1339692;1650786;1687644;5020726 D5S2005;RH16364;RH44324;STS-AA037508 CRR9;DKFZp666M1010;DKFZp761M2324;FLJ14400;FLJ32533 CLPTM1-like protein;CRR9p;OTTHUMP00000161634;OTTHUMP00000220655;cisplatin resistance related protein CRR9p;cisplatin resistance-related protein 9;cleft lip and palate transmembrane protein 1-like protein protein-coding ENSG00000049656 24308 07480 612585 PROVISIONAL 2291757 CLRN2 clarin 2 This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008] 4 4 4 p15.32 17981782 17993722 + 17125886 17137825 + 17516788 17528727 + 15489334;12477932;12080385 645104 A0PK11 ABBA01032608;AC093600;AMYH01014034;BC127863;NM_001079827 A0PK11;AAI27864;NP_001073296 Hs.631526 OTTHUMP00000225137;Usher syndrome 3A-like;clarin-2 APPROVED protein-coding ENSG00000249581 33939 REVIEWED 737108 CLRN1 clarin 1 This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 3 3 q25 152126640 152173476 - 150643950 150690786 - 634439;1580863;6480464;7240710 12145752 15521980;15650299;18484607;18281613;15489334;14569126;12477932;12080385;11524702;10704288;10364543;8975700;7711740;22787034;19423712;19683999;19753315;20717163;21310491;21675857;23304067;8889548;20301590;22964989 7401 C9JWF3;C9JYI2;P58418 ABBA01058917;ABBA01058918;AC020636;AF388366;AF388368;AF482697;AF495717;AMYH01013578;AMYH01013579;BC074970;BC074971;BM666773;CH471052;HM626132;HM626133;HM626134;HM626135;HM626136;NG_009168;NM_001195794;NM_001256819;NM_052995;NM_174878;NR_046380 AAH74970;AAH74971;AAL09581;AAL09582;AAM88774;AAN07148;ADM63096;ADM63097;ADM63098;ADM63099;ADM63100;EAW78814;EAW78815;EAW78816;NP_001182723;NP_001243748;NP_443721;NP_777367;P58418 Hs.745448 1794612;1794614;1794616;1794618;1794620;2107755 PMC328092P3;PMC328092P4;PMC328092P5;PMC328092P6;PMC328092P7;USH3A__5035 RP61;USH3;USH3A OTTHUMP00000179117;OTTHUMP00000214792;OTTHUMP00000216724;Usher syndrome type-3 protein;clarin-1;usher syndrome type iii a APPROVED protein-coding ENSG00000163646 12605 05905 276902;606397;614180 REVIEWED 1603923 CLRN3 clarin 3 10 10 10 q26.2 123347587 123362681 - 129566104 129581201 - 129676114 129691211 - 6480464 22658654;16341674;15489334;15164054;12477932;12145752;12080385;16385451;20379614;17207965 119467 Q8NCR9 ABBA01009091;AL158166;AMYH01003173;BC029478;BM830163;BX640823;CH471066;NM_152311 AAH29478;ADQ32266;CAE45899;EAW49191;EAW49192;NP_689524;Q8NCR9 Hs.242014 1697186;1703486;1704540 RH102083;SHGC-82601;SHGC-83074 DKFZp686F11218;MGC32871;TMEM12;USH3AL1 OTTHUMP00000020734;clarin-3;transmembrane protein 12;usher syndrome type-3A-like protein 1 protein-coding ENSG00000180745 20795 14553 VALIDATED 1322154 CLPTM1 cleft lip and palate associated transmembrane protein 1 19 19 19 q13.3 42262951 42300913 + 50150478 50188439 + 45457842 45496604 + 6480464 9218588;9828125;16303743;16263699;16247549;16122939;16102578;15489334;12477932;8125298;19913121;20572854;20628086;20634891;20672350;19773279;19937600;16344560;8889548;22939629;21139048;21890473;21903422;21906983 1209 B3KQH2;B4DDS3;F5H8J3;K7EJ16;K7EKQ7;K7EQQ1;K7ERL5;O96005 ABBA01040899;AC011481;AF037338;AF037339;AK074935;AK075262;AK223553;AK293314;AK304480;AK310826;AK316094;AMYH01009847;BC004865;BC012359;BI916245;BM676309;BQ574654;BT007262;CH471126;CQ834666;CQ834668;DB033341;DC313765;DC383798;NM_001294;NR_040006;NR_040007 AAC97420;AAC98151;AAH04865;AAH12359;AAP35926;ABM83162;ABM86362;BAD97273;BAG52034;BAG56834;BAG65291;BAH14465;CAH05548;CAH05549;EAW57314;EAW57315;NP_001285;O96005 Hs.444441 1647587;1678337;1711264;2129344 G18054;RH47704;RH91487;SHGC-89260 cleft lip and palate transmembrane protein 1 protein-coding ENSG00000104853 2087 604783 VALIDATED 1319224 CLSPN claspin The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 p34.2 35974405 36008138 - 36197713 36235551 - 1580863;6480464 11090622;12791985;15226314;15707391;18451105;18353973;18331829;18077083;17431426;17274954;17102137;17081983;16963448;16951182;16934469;16885022;16885021;16880517;16828751;16710414;16501606;16123041;15489334;15279790;15190204;15096610;12766152;12477932;22863316;20029092;16901786;18662541;19124652;19270516;19477924;19737971;19828454;20081369;20233725;20657549;16885023;18084324;18922873;21502314;21775519;23109433;21478680;21945441;19471022;21139048;21693764;21906983;20930849;20424596;23383325;22017875;22732499;22731782 63967 E7ESG2;Q9HAW4 ABBA01023334;AF297866;AK308193;AL354864;AMYH01000491;BC018670;BC038991;BC062215;BC113116;BC115023;BC115024;BC115025;BC115026;BC115027;BC137279;BC140789;BG109920;CH471059;NM_001190481;NM_022111 AAG24515;AAH18670;AAH38991;AAH62215;AAI13117;AAI15026;AAI15027;AAI37280;AAI40790;EAX07401;EAX07402;NP_001177410;NP_071394;Q9HAW4 Hs.175613 1341396;1683587;2127923;5017227;5019070;5020885;5020946;5021228;5022578;5024761;5037552 D11S1910;D1S1423;D8S2279;G38154;G44334;GDB:312794;L17791;L17971;RH36905;RH91339;SHGC-37119 CLASPIN;MGC131612;MGC131613;MGC131615 OTTHUMP00000004343;OTTHUMP00000226108;OTTHUMP00000226109;OTTHUMP00000226220;claspin;claspin homolog;hClaspin APPROVED protein-coding 19715 09257 605434 REVIEWED 5133104 CLTC-IT1 CLTC intronic transcript 1 (non-protein coding) 17 57707431 57709346 + 100506863 AC091271;CH471109;XM_003118745;XM_003403689 EAW94401;XP_003118793;XP_003403737 Hs.676463 CLTC intronic transcript 1 (non-protein coding) protein-coding 41321 MODEL 1315087 CLSTN1 calsyntenin 1 1 1 1 p36.22 8900350 8996174 - 9711666 9807137 - 9789079 9884550 - 1580863;6480464 16712791;16760430;16710414;15146195;15037614;14702039;12972431;12477932;12421765;11161476;10048485;8125298;21385839;17332754;22434822;21555518;21906983;22571980 22883 B3KMD3;B4E3Q1;O94985;Q5SR54 AB020718;ABBA01035567;ABBA01035568;ABBA01035569;ABBA01035570;AF438482;AK000605;AK001591;AK056820;AK225500;AK289798;AK304813;AL357140;AL691449;AMYH01000241;AY545556;AY753301;BC033902;CB132727;CH471130;NM_001009566;NM_014944 AAH33902;AAQ04552;AAV30551;ABM82189;ABM85376;BAA74934;BAF82487;BAG50945;BAG51814;BAG65563;EAW71629;EAW71630;NP_001009566;NP_055759;O94985 Hs.29665 1664765;1667890;1672123;1672125;1733148;1733480;1767855;2113206;2120973;2142598;2147876;2170324;2178392;5091962 A006Z42;D17S1247;D1S1458;D1S3706;IB3691;NIB2114;RH11792;RH15907;RH50479;RH63840;SHGC-16182;SHGC-74173;WI-16255;WI-16324 ALC-ALPHA;CDHR12;CSTN1;FLJ32258;KIAA0911;PIK3CD;XB31alpha;alcalpha1;alcalpha2 OTTHUMP00000001597;OTTHUMP00000001598;OTTHUMP00000001599;alcadein alpha 1;alcadein-alpha;alzheimer-related cadherin-like protein;cadherin-related family member 12;calsyntenin-1;non-classical cadherin XB31alpha;non-classical cadherin XB31alpha1 protein-coding ENSG00000171603 17447 10837 611321 VALIDATED 1350123 CLSTN2 calsyntenin 2 3 3 3 q23 138076932 138710571 + 141136897 141769328 + 139654027 140286919 + 1580863;6480464 19606085;19422935;19174780;19058786;18519826;15489334;15037614;14702039;12972431;12498782;12477932;21658281;19804789;20379614;20691427;22589738;21643791;23049088;23472185 64084 Q9H4D0 ABBA01059056;ABBA01059057;ABBA01059058;ABBA01059059;ABBA01059060;ABBA01059061;AC010181;AC048346;AC092988;AC108744;AC117390;AC117396;AC117449;AJ278018;AK056411;AK096432;AK096818;AK315308;AMYH01013538;AMYH01013539;AY753303;BC004871;BC007943;BC103496;BC103506;BC104485;CH471052;NM_022131 AAH04871;AAH07943;AAI03497;AAI03507;AAI04486;AAV30553;BAG37712;BAG51700;BAG53289;BAG53367;CAC14924;EAW79016;EAW79017;EAW79018;NP_071414;Q9H4D0 Hs.158529 1654243;1655207;1687067;1705170;1708852;1717817;1717907;1725417;1747777;1764013;1780148;2117284;2122094;2142559;2174708;5123921 A008B10;D3S3366;D3S3394;G66792;RH119104;RH121819;RH122827;RH25530;RH47922;RH47981;SHGC-147671;SHGC-154475;SHGC-24365;SHGC-80030;SHGC-83921;WI-14298 ALC-GAMMA;CDHR13;CS2;CSTN2;FLJ39113;FLJ39499;MGC119560;alcagamma OTTHUMP00000217652;alcadein gamma;alcadein-gamma;cadherin-related family member 13;calsyntenin-2 protein-coding ENSG00000158258 17448 13077 611323 VALIDATED 732033 CLSTN3 calsyntenin 3 12 12 12 p13.31 8859131 8887704 + 7174234 7202808 + 7282967 7311541 + 1580863;6480464 16344560;15489334;15037614;12972431;12498782;12477932;9872452 9746 F5H172;F5H5C6;F5H5D7;F5H746;F5H7C7;Q9BQT9 AA864252;AB018269;ABBA01012197;AC018653;AJ277460;AK299177;AK299246;AK316059;AMYH01004213;AY753302;BC039075;BC104767;BC111491;BC112283;BC148258;CH471116;DA092023;NM_014718 AAH39075;AAI04768;AAI11492;AAI12284;AAI48259;AAV30552;BAA34446;BAG61223;BAG61277;BAH14430;CAC33084;EAW88676;EAW88677;EAW88678;EAW88679;EAW88680;NP_055533;Q9BQT9 Hs.535378 1700390;1733602 D12S931;RH103815 CDHR14;CSTN3;KIAA0726;MGC131797;MGC138488;alcbeta OTTHUMP00000238166;OTTHUMP00000238167;alc-beta;alcadein beta;alcadein-beta;cadherin-related family member 14;calsyntenin-3 protein-coding ENSG00000139182 18371 16725 611324 VALIDATED 3516302 CLUHP1 clustered mitochondria (cluA/CLU1) homolog pseudogene 1 Y 19735743 19736304 - 100418708 AC007742;NG_004636 KIAA0664P1 APPROVED pseudo 38416 VALIDATED 733774 CLTA clathrin, light chain A Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010] 9 9 p13 36180892 36202056 + 36190853 36212059 + 1580863;1300048;6480464;6484113;6907045 10567358;11157096;18165318;16138905;15489334;15164053;12692238;12589051;12477932;12426379;11889126;8125298;7713494;3267234;2406259;2211724;2204686;1975516;19913121;20628086;11031247;11252894;15533940;16799092;17213182;19615732;20562859;9651214;21145461;21152103;17110338;18548008;19738201;21988832;22623428;23000965;23398456;23460120;21203429;21611203;19144635;17620599;21139048;21890473;21900206;21628590;12057195;17140399;17581864;18602423;18977142;20012528;21289110;21704113;21738476;22505724;8413590;9314527 1211 C9J8P9;F8WF69;P09496 ABBA01050433;ABBA01050434;AK225153;AK291078;AK295692;AL158830;AMYH01019348;BC009201;BC019287;BI090227;BM423666;BT007170;CA306784;CH471071;DQ270158;DT220470;M20471;M20472;NM_001076677;NM_001184760;NM_001184761;NM_001184762;NM_001833;NM_007096 AAA51817;AAA59505;AAH09201;AAH19287;AAP35834;ABB76683;BAF83767;BAG58543;EAW58310;EAW58311;EAW58312;NP_001070145;NP_001171689;NP_001171690;NP_001171691;NP_001824;NP_009027;P09496 Hs.522114 1676906;1680605;1694692;1747097;2143116;2169008 AV026556;G43533;RH67858;RH74929;RH79677;STS-M20471 LCA OTTHUMP00000021365;OTTHUMP00000021366;OTTHUMP00000215626;OTTHUMP00000215627;OTTHUMP00000215628;clathrin light chain A;clathrin, light polypeptide (Lca) APPROVED protein-coding ENSG00000122705 2090 00351 118960 REVIEWED 1350184 CLTCL1 clathrin, heavy chain-like 1 This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 22 22 q11.21 17546986 17659239 - 19166986 19279239 - 1580863;6480464;6907045 21145461;8844170;8733128;17081983;15998911;15790807;15146197;15133132;14702039;12477932;10737800;10436022;8776594;8733129;15342556;16799092;19478182;19509056;20065094;20379614;21182205;22360420;21906983;21963094;21628590;22891263;22505724;22916037 8218 F5H5N6;H0Y529;H0YGJ9;J3KR87;P53675 ABBA01005420;ABBA01005421;AC000072;AC000081;AC000085;AC000094;AC004463;AK125929;AK294147;AK295264;AK302506;AMYH01012476;AMYH01012477;AY927418;BC113030;BC143977;BC143979;BF893495;BP281338;CH471176;CN428107;L77568;L77569;NM_001835;NM_007098;U41763;U60802;X95486;X95487 AAB40908;AAC50494;AAI13031;AAI66681;BAH11683;BAH12020;BAH13731;CAA64752;CAA64753;EAX03046;EAX03047;NP_001826;NP_009029;P53675 Hs.368266 1684006;1788436;1789296;2112176;2112190;2112444;2112506;5037542;5037620;5037622 D22S1567;D22S1574;D22S1576;D22S1610;D22S1612;D22S1646;D22S1669;D22S976E;G67876;fc90a05.y1 CHC22;CLH22;CLTCL;CLTD;FLJ36032 CLH-22;Clathrin, heavy polypeptide D;OTTHUMP00000238085;OTTHUMP00000238087;OTTHUMP00000238088;clathrin heavy chain 2;clathrin heavy chain on chromosome 22;clathrin, heavy polypeptide-like 1 APPROVED protein-coding ENSG00000070371 2093 03172 601273 REVIEWED 4109590 CLUHP2 clustered mitochondria (cluA/CLU1) homolog pseudogene 2 Y 20443470 20444031 + 9847074 100418709 AC007241;NG_004636 KIAA0664P2 APPROVED pseudo 38453 VALIDATED 3516301 CLUHP4 clustered mitochondria (cluA/CLU1) homolog pseudogene 4 4 190982234 190984151 - 100418711 NG_022045;U85056 1731379;7189441;7189449 D4F104S1 KIAA0664P4 APPROVED pseudo 38470 INFERRED 733395 CLTB clathrin, light chain B Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 5 5 q35 175752062 175776146 - 175819456 175843570 - 1580863;6480464;6484113;6907045 16138905;15489334;12589051;12477932;12426379;11889126;10360576;7836475;7713494;3267234;3128543;2874131;2211724;1189126;2204686;19913121;20628086;15533940;16169070;19034380;16341674;17620599;15146197;21139048;19738201;22505724;23000965;23251661;23398456;17140399;17581864;18602423;18977142;20012528;21289110;21704113;21738476;9314527 1212 B4DTF9;D6RJD1;H0Y9Q6;P09497 ABBA01033499;ABBA01033500;AC138956;AK300200;AMYH01015859;BC006332;BC006457;BM761740;BT007028;CH471195;CN409237;CR536577;M20469;M20470;NM_001834;NM_007097;NR_045724 AAA51818;AAA59506;AAH06332;AAH06457;AAP35675;BAG61971;CAG38814;EAW85077;EAW85078;EAW85079;EAW85080;NP_001825;NP_009028;P09497 Hs.484241 1676208;1712210;2167098;2167361;2218388 CLTB_4592;G54012;RH69093;RH98811;WI-7674 LCB OTTHUMP00000161245;OTTHUMP00000161246;clathrin light chain B;clathrin, light chain (Lcb);clathrin, light polypeptide (Lcb) APPROVED protein-coding ENSG00000175416 2091 00352 118970 REVIEWED 3516295 CLUHP5 clustered mitochondria (cluA/CLU1) homolog pseudogene 5 10 135473783 135475703 - 100418745 AL845259;AMYH01003243;NG_022159 1731379;7189441;7189449 D4F104S1 KIAA0664P5 APPROVED pseudo 38471 INFERRED 732795 CLTC clathrin, heavy chain (Hc) Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008] 17 17 q11-qter 55051832 55129099 + 57697050 57774317 + 1580863;1300048;6480464;6484113;6907045 22496312;22558309;11799118;17220478;17353931;1765375;10567358;11157096;19289168;18656476;18363968;18042253;17952123;17550971;17307723;17081065;16903783;16618797;16138905;15917292;15489334;15383276;15324660;15302935;15067034;14702039;14563850;12960147;12952949;12952941;12732633;12665801;12589051;12477932;12429846;12426379;12237126;12221107;12105200;11964161;11889126;11877451;11532990;11451993;11387476;11301005;11278436;10862698;10692452;10477727;10436022;10360576;10336464;10330411;10097102;9827808;9603201;9545220;9280305;9195986;9169477;11532964;11470803;8733129;8276759;7584028;7584026;6147350;2406259;2154445;1587861;9314527;11604514;11423532;16169070;15133132;11517213;19913121;20498856;20628086;11031247;11252894;14985334;15533940;15858577;1589293;17666399;19478182;19509056;19529763;19654208;19766654;19793827;19859085;20639872;16716190;18614564;20562859;20936779;20566684;15657082;17506864;21145461;21319273;9233772;21297582;21289110;21362119;21364927;17500595;21182205;22939629;22980331;22990118;16196087;19135240;15161933;17461779;19765186;20360068;21081666;21917865;10748223;14596919;16868077;17620599;19722700;22335553;22586326;21139048;21890473;21906983;21965600;18457437;18781797;19596686;21956701;21987572;22010197;22108332;22178446;22321011;21252943;22536838;16009940;16412388;16431367;17052248;17344219;21291504;21628590;12057195;12538641;17400507;16314522;19738201;19805454;20448150;21963094;21988832;22053931;22323290;22623428;22935703;22963397;23000965;23077236;23080069;23106098;23184937;23222715;23228632;23236378;23246001;11447109;16027165;17140399;17267500;17581864;17785434;18602423;18977142;19380743;19798056;21382013;21704113;21738476;21853274;22505724;22891263 1213 J3KRF5;J3KS13;J3KSQ2;J3KTN1;J3QL20;K7EJJ5;Q00610 AB073891;ABBA01003169;ABBA01003170;ABBA01003171;AC091271;AK127134;AMYH01008526;BC015854;BC036430;BC051800;BC054489;BX473803;BX640615;CH471109;D21260;NM_004859;X55878 AAH36430;AAH51800;AAH54489;BAA04801;CAA39363;CAE45761;EAW94395;EAW94396;EAW94397;EAW94398;EAW94399;NP_004850;Q00610 Hs.491351 1650588;1658247;1688656;1691774;1693436;1693846;1706730;1738973;1771278;1848787;1849529;2171554;2175576;2179252;5491561 D17S1600;D17S2052;G42242;G42377;G42611;MARC_20665-20666:1025269998:3;RH11769;RH25272;RH46414;RH81083;SGC30655;SHGC-36454;SHGC-80819;WI-18090;WI-19130 CHC;CHC17;CLH-17;CLTCL2;Hc;KIAA0034 OTTHUMP00000165784;OTTHUMP00000165785;clathrin heavy chain 1;clathrin heavy chain on chromosome 17;clathrin, heavy polypeptide (Hc);clathrin, heavy polypeptide-like 2 APPROVED protein-coding ENSG00000141367 2092 00350 118955 REVIEWED 68978 CLU clusterin The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011] 8 8 p21-p12 27510368 27528244 - 27454434 27472328 - 1581194;727237;1581195;734787;1580863;1626306;6480464 15139011;12782389;15925890;8314591;15912881 21224044;17043677;2387851;16113678;16682745;14718574;19542874;19446882;19413638;19391138;19353783;19344414;19289586;19264665;19220628;19182256;19177010;19166932;19165232;19137541;19118032;18842294;18813793;18806885;18786636;18714397;18712185;18709641;18649357;18612545;18542050;18514801;18458059;18378577;18097679;18082619;18079682;17974975;17872975;17855704;17689225;17535098;17534116;17512083;17451556;17420006;17412999;17322305;17260971;17224269;17203891;17148459;17080454;17056579;17048076;16955214;16806233;16775601;16740002;16709934;16709604;16675913;16490286;16464517;16421571;16335952;16331665;16263699;16179938;15955107;15929184;15883054;15809754;15791650;21397462;21953030;22545109;22506010;15689620;15649646;15591223;15538973;15499376;15492264;15489334;15480429;15389725;15304052;15252304;15247015;15158456;15146195;15133840;15033782;14760718;14702039;14618611;12882985;12867999;12860995;12824284;12754519;12679903;12551933;12477932;12470829;12429802;12427144;12393179;12200037;12176985;12172907;12082621;11906815;11892985;11813210;11795992;11714447;11570883;11186422;10329371;10219089;9537999;9336835;9228033;8889548;8843912;8759347;8752142;8634259;8555189;8387101;8345200;8328966;8292612;8181474;7768901;7626703;7615015;3167096;3154963;2780570;2780565;2721499;2601725;2454950;2185274;1974459;1924317;1903064;1585460;1551440;1491011;1424805;21467285;20570404;20599866;20697030;20738160;20739100;20842452;21460841;21627779;14630798;15342556;16548883;18239862;19357365;19535339;19651157;19664600;19734902;19734903;19757199;19793084;19814590;19878569;19878770;19879420;19879421;19879422;19879423;19903339;19935703;19940549;19996109;20007348;20009887;20019877;20028970;20057494;20068069;20096688;20209083;20410100;20460622;20534741;10066740;10694874;11123922;11904161;17407782;19878774;20930273;21135756;21505792;20603455;20353268;23209684;20847305;20058210;20614220;20554627;20497247;20873220;19903745;20850846;20855565;21059989;20360068;21508640;21900379;21912625;21980627;21240462;21242307;20674675;21042904;21043527;21633299;22539578;21300948;21163940;22863883;22990118;21892414;21379329;21527247;21543606;21280673;21573492;21447104;21422520;20000738;21761117;22896337;23650005;21460853;21467232;22013110;21630085;21824521;21998749;22016805;22068036;22236192;22296908;18624398;21953454;22266332;22179788;22234156;22082661;22159129;21567405;15174051;17170699;20195357;22832520;21988832;22795969;22975582;21347408;21732348;21899841;22012253;22122982;22145905;21525168;22166956;22232000;22569264;22015308;22130675;21987172;22248099;22465014;22532874;22258514;22402018;23201481;23455922;22391565;23099883;23174100;22906254;22981431;23276503;22889670;23416242;22617144;23010347;23279642;22902018;22268729;22274961;22647452;22689054;23051594;22613415;22701550;22952074 1191 AAB25217;E5RG36;E5RGB0;E5RH61;E5RJD6;E5RJZ5;E7ERK6;E7ETB4;H0YAS8;H0YC35;H0YLK8;P10909 A21577;ABBA01005588;ABBA01005589;AF311103;AK093399;AK301324;AK313870;AMYH01018598;AY172563;AY184486;AY341244;AY513288;BC010514;BC013221;BC019588;BC029972;BF528374;BG819541;BG914262;BM682289;BM723283;BP193735;BQ181025;BQ181739;BX418836;BX459023;BX648414;DN990822;EB385800;HI179162;HI179164;J02908;L00974;M25915;M26639;M63379;M64722;M74816;NG_027845;NM_001831;NR_038335;NR_045494;X14723 AAA35692;AAA36609;AAA51765;AAA60321;AAA60567;AAB06507;AAB06508;AAB25217;AAH10514;AAH19588;AAN78322;AAN87347;AAP88927;AAT08041;ABM82371;ABM85549;BAG36598;BAG52708;BAG62873;CAA01560;CAA32847;CAI45990;CBX53889;CBX53890;NP_001822;P10909 Hs.436657 1690524;1794064;2140872;2159986 PMC310777P3;RH11712;RH27907;STS-J02908 AAG4;APO-J;APOJ;CLI;CLU1;CLU2;KUB1;MGC24903;NA1/NA2;SGP-2;SGP2;SP-40;TRPM-2;TRPM2 NA1/NA2;OTTHUMP00000128311;OTTHUMP00000225247;OTTHUMP00000225248;OTTHUMP00000225249;aging-associated protein 4;apo-J;apolipoprotein J;clusterin;complement cytolysis inhibitor;complement lysis inhibitor;complement-associated protein SP-40,40;ku70-binding protein 1;sulfated glycoprotein 2;testosterone-repressed prostate message 2 APPROVED protein-coding ENSG00000120885 2095 01706 185430 REVIEWED 1354421 CLUAP1 clusterin associated protein 1 The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 16 16 16 p13.3 3757743 3794429 + 3490964 3527670 + 3550945 3589048 + 1580863;6480464 16189514;17203229;15489334;15480429;14702039;12477932;9734811;19253336;21832049;16344560;8889549;19322201;21906983;22118674 23059 B4DFY1;I3L0L1;I3L121;I3L1J4;I3L257;I3L2E1;I3L3S9;I3L455;I3L487;J3KNW5;Q96AJ1 AB014543;AB089691;ABBA01026740;AC004224;AC004494;AK023319;AK023359;AK294318;AMYH01007094;BC017070;BQ446386;CH471112;DA502615;NM_015041;NM_024793;T49451 AAH17070;BAA31618;BAB14523;BAB14542;BAD44779;BAG57592;EAW85352;EAW85353;EAW85354;NP_055856;NP_079069;Q96AJ1 Hs.155995 1778981;1852800;5020740;5024413;5118576 D11S3430;L17809;L17877;SHGC-60726;SHGC-61133 FAP22;FLJ13297;KIAA0643 clusterin-associated protein 1;flagellar associated protein 22, qilin-like protein, homolog;qilin APPROVED protein-coding ENSG00000103351 19009 10013 REVIEWED 6481266 CLYBL-AS1 CLYBL antisense RNA 1 100874062 AL445184 APPROVED miscrna 39893 6481268 CLYBL-AS2 CLYBL antisense RNA 2 100874063 AL445184 APPROVED miscrna 39894 1602646 CLVS1 clavesin 1 8 8 8 q12.3 58190369 58404047 + 62363104 62576758 + 62200525 62414204 + 6480464 18271718;16802092;16344560;14702039;12477932;19651769;20379614;21116278;17207965 157807 E5RI68;E5RJ00;E5RK22;G3V122;Q8IUQ0 ABBA01041824;ABBA01041825;AC013543;AC023866;AC025133;AC090094;AF445194;AK091641;AK094567;AK125153;AK313040;AMYH01018760;AY094971;BC042617;BC048992;BK006899;CH471068;DA217517;NM_173519 AAH42617;AAM15733;AAP97323;ADQ33027;BAG35872;DAA06536;EAW86838;EAW86839;NP_775790;Q8IUQ0 Hs.591874 1334835;1336241;1646087;1646089;1679075;1680371;1696608;1697572;1705396;1713951;1734160;1773822;1786610;1849926;1851045;2126038;2130639;2145480;2175361;2184693;2185470;7186196 A006X24;D8S1228;D8S1596;D8S1843;D8S1898;D8S1956;D8S2108;D8S510;NIB322;RH102296;RH119404;RH66163;RH78220;RH91181;RH91768;SHGC-144187;SHGC-32770;SHGC-82908;SHGC-83561;WI-15471;WI-18548 CRALBPL;FLJ37248;MGC34646;RLBP1L1 OTTHUMP00000226481;OTTHUMP00000226484;cellular retinaldehyde-binding protein-like;clavesin-1;retinaldehyde binding protein 1-like 1;retinaldehyde-binding protein 1-like 1 APPROVED protein-coding ENSG00000177182 23139 14581 611292 VALIDATED 2298812 CLUHP3 clustered mitochondria (cluA/CLU1) homolog pseudogene 3 16 16 16 p11.2 28590049 28596873 - 31619403 31627991 + 31711934 31718758 + 6480464 15489334;14702039;12477932;11181995 100132341 Q96NS8 ABBA01042102;AC074050;AK054698;AMYH01007510;BC000552;BC021555;CH471192;NR_024034 BAB70796;EAW52111;EAW52112;EAW52113;EAW52114;EAW52115;Q96NS8 Hs.715792 2110565 MGC3020__7702 C16orf67;FLJ30136;KIAA0664;KIAA0664L3;KIAA0664P3;MGC3020;MGC31812 APPROVED miscrna ENSG00000131797 28447 PREDICTED 1349283 CMAR cell matrix adhesion regulator 7240710 1560826 2099 607259 1315705 CLUL1 clusterin-like 1 (retinal) 18 18 18 p11.32 471678 524959 + 586998 640298 + 596998 650298 + 1580863 17286855;15489334;14507903;12477932;10675623;19913121;20628086;20379614 27098 F5GWQ8;J3QKW8;Q15846;R4GN76;R4GN95 ABBA01049813;ABBA01049814;ABBA01049815;AF395889;AK299319;AL712819;AL713125;AMYH01008771;AMYH01008772;AP001178;BC025381;BX108184;CH471113;D63813;DQ980621;NM_014410;NM_199167 AAH25381;AAM73723;ABJ97142;ABM81845;ABM84996;BAA09882;BAH13000;EAX01724;EAX01725;EAX01726;NP_055225;NP_954636;Q15846 Hs.732341 1335076;1340121;1728049;2109167;2138368;2142990;7186286 CLUL1_9521;D18S1140;D18S59;G63295;SHGC-31651;WI-22706 RA337M clusterin-like protein 1;retinal-specific clusterin-like protein protein-coding ENSG00000079101 2096 16726 VALIDATED 1601881 CLUH clustered mitochondria (cluA/CLU1) homolog 17 17 17 p13.3 2609348 2631592 - 2539430 2561677 - 2592680 2614927 - 6480464 22586326;15489334;15302935;14702039;12477932;9734811;19913121;20628086;12421765;22863883;21139048;21890473;21906983;22053931 23277 I3L0P4;I3L2B0;I3L318;I3L350;I3L3A3;I3L4B5;K7EIG1;O75153 AB014564;ABBA01054719;AC005696;AK023003;AK074252;AK125717;AK308854;AMYH01008017;AW291521;BC004266;BC033614;BC063786;BX648864;CH471108;CR627449;NM_015229 AAH04266;AAH33614;AAH63786;AAI56058;AAI56941;BAA31639;CAH10532;EAW90532;EAW90533;EAW90534;NP_056044;O75153 Hs.22616 5015961 D15S1477 CLU1;DKFZp686L05242;DKFZp686M09233;FLJ23672;KIAA0664 clustered mitochondria protein homolog;hypothetical protein LOC23277;protein KIAA0664 APPROVED protein-coding ENSG00000132361 29094 10014 VALIDATED 1604529 CLVS2 clavesin 2 This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013] 6 6 6 q22.31 124062048 124129515 + 123359281 123426762 + 123317582 123385063 + 6480464 14702039;12477932;19651769;22219177 134829 Q5SYC1 ABBA01025979;AK095527;AK295158;AL591428;AMYH01016637;BC101376;BC101377;BK006900;BM684470;CH471051;NM_001010852 AAI01377;AAI01378;BAG53077;BAG58172;DAA06537;EAW48160;EAW48161;EAW48162;NP_001010852;Q5SYC1 Hs.486361 1774443;2143331;2155335 AFM342xc1;G19602;SHGC-1299 C6orf212;C6orf213;MGC120572;RLBP1L2;bA160A10.4 OTTHUMP00000017121;OTTHUMP00000017122;clavesin-2;retinaldehyde binding protein 1-like 2;retinaldehyde-binding protein 1-like 2 APPROVED protein-coding 23046 16666 REVIEWED 1312156 CLYBL citrate lyase beta like 13 13 13 q32 81103446 81393885 + 99056937 99342825 + 100258919 100549388 + 1580863;6480464 14702039;12477932;11741334;11894096;11368773;12577067;16344560;18821565;20800603;20877624;20304029;22367966;23251661 171425 B4DU60;Q5JVB9;Q5JVC0;Q5JVC1;Q5JVC2;Q8N0X4 ABBA01027112;ABBA01027113;ABBA01027114;ABBA01027115;ABBA01027116;ABBA01027117;AF428253;AK095506;AK300510;AL137139;AL139035;AL359748;AL445184;AMYH01005327;AMYH01005328;AMYH01005329;AMYH01005330;AW247892;BC034360;CH471085;DA621336;NM_206808 AAH34360;AAL84703;BAC04561;BAG62222;EAX09024;EAX09025;NP_996531;Q8N0X4 Hs.655642 1336306;1677416;1730433;1737411;1737413;1752813;1757117;1857572;2111682;2143859;2175736;5015125;5037552 AI256068;D13S1232;D13S1601;D13S191;D13S986;D13S988;D8S2279;RH48969;RH98521;SHGC-106721;SHGC-144557;SHGC-17234;STS-AA007365 CLB;bA134O15.1 OTTHUMP00000018626;OTTHUMP00000018627;OTTHUMP00000018628;citrate lyase beta-like;citrate lyase subunit beta-like protein, mitochondrial protein-coding ENSG00000125246 18355 10838 609686 VALIDATED 1352628 CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008] 6 6 p21.32 25189274 25246030 - 25081295 25138620 - 6480464 9751737;7608218;18085818;16344560;16272417;14574404;12477932;12192086;11562455;11522390;11181995;9786333;9675135;9624188;8889548;19890979;20800603 8418 I3L0H2;Q9Y471 ABBA01066542;AF074480;AK000716;AK303297;AL133268;AMYH01016158;BC022302;BC032500;BC059791;BG536615;CA312822;CH471087;CR749466;D86324;DA976765;FJ794466;NR_002174;NR_027626 AAC68881;ACN93797;BAH13934;CAH18297;EAW55476;EAW55477;EAW55478;Q9Y471 Hs.484918 1678935;1705378;1755133;1792862;1794808;2154505 PMC166143P3;PMC58741P1;RH78420;RH93101;SHGC-142060;SHGC-83548 CMAH;CSAH APPROVED pseudo 2098 603209 VALIDATED 1606460 CMBL carboxymethylenebutenolidase homolog (Pseudomonas) CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010] 5 5 5 p15.2 10315760 10346293 - 10330707 10361168 - 10277707 10308168 - 6480464 3804974;12477932;17353931;16344560;20177059;17207965;16328025;20000738;21628590 134147 Q96DG6 ABBA01020593;ABBA01020594;ABBA01020595;ABBA01020596;AC012640;AJ278125;AK074197;AK315390;AMYH01014902;BC001573;BX647141;CH471102;DA628493;NM_138809 AAH01573;ADQ31870;BAB85014;BAG37783;CAC81950;EAX08070;EAX08071;NP_620164;Q96DG6 Hs.192586 1643696;1665046;1857203;2154433;2160100;2161142;2163186;2164281;2182157;5022578;5022651 A004G20;A008C19;D11S2921;D1S1423;D5S1657E;RH41783;RH65280;RH69846;SGC34096;STS-N93586;T03685 FLJ23617;JS-1 OTTHUMP00000161672;carboxymethylenebutenolidase homolog;carboxymethylenebutenolidase-like (Pseudomonas) APPROVED protein-coding 25090 14055 613379 VALIDATED 1606956 CMC1 COX assembly mitochondrial protein 1 homolog (S. cerevisiae) 3 3 3 p24.1 28219569 28297727 + 28258128 28336268 + 28283124 28361264 + 6480464;7240710 18443040;12477932;17207965;20877624 152100 C9JES7;F8WAC1;H7C3D8;Q7Z7K0 ABBA01024980;AC092503;AC098616;AF086095;AMYH01013047;BC052644;BX648671;CH471055;CR749370;NM_182523 AAH52644;ADQ33062;CAH18223;EAW64390;EAW64391;NP_872329;Q7Z7K0 Hs.444724 1681076;1700884;1717417;1751451;1846805;2133748;5019791 A009V06;G32867;RH104069;RH122199;RH91098;SHGC-105227;STS-H03343 C3orf68;DKFZp779D0833;MGC61571 COX assembly mitochondrial protein homolog;CX9C mitochondrial protein required for full expression of COX 1;OTTHUMP00000208427;OTTHUMP00000208428;OTTHUMP00000208430;cmc1p;mitochondrial metallochaperone-like protein APPROVED protein-coding 28783 14698 163000;185300;615166 PROVISIONAL 1349369 CMD1A cardiomyopathy, dilated 1A (autosomal dominant) 7240710 7951328 1217 2101 115200;151660;159001;176670;181350;212112;248370;275210;605588;610140;613205 735367 CMA1 chymase 1, mast cell This gene product is a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Angiotensin II has been implicated in blood pressure control and in the pathogenesis of hypertension, cardiac hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular disease therapies. This gene maps to 14q11.2 in a cluster of genes encoding other proteases. [provided by RefSeq, Jul 2008] 14 14 q11.2 24044552 24047311 - 24974712 24977471 - 1581742;1625397;1625396;1625394;1580863;5128799;5128499;5128820;5128600;5128839;1581745;5128816;5128660;5128552;5128572;5128561;5128804;5128508;5128509;5128867;6480464;6907045 15638741;15248847;15924217;16134991;15337505;15723097;17081716;14620933;11549546;15869764;17334631;10508822;18783610;8759823;16446531;20813890;11828013;14578624;10624773 21786536;18079408;17851694;17460374;17035401;16962475;16786130;16520412;16400609;16317101;16020275;15919053;15914614;15788353;15638376;15555355;15489334;15449728;15227657;15106801;14757520;14701812;14592513;12815038;12614156;12531890;12499576;12484503;12477932;12446192;18641516;12359984;12165749;12097409;1894611;1919436;19332265;18973102;18958543;18856058;18845543;12047032;11852067;11751973;11696688;11303326;11208365;11096141;10899625;10224464;10208809;9931257;9675146;9400368;9257865;8695029;8495723;8468056;8226889;8144971;8027075;7682566;2071582;2049082;20628086;20659024;20736038;19913121;20800603;17199219;19380825;19520069;19697770;19853701;19899640;20423454;20424473;20670150;21150220;21274549;21796807;22102069;22180785;22363824;22194960;22653218 1215 P23946;Q3SY37;Q4FEB3 AB451464;ABBA01061345;AL132800;AMYH01005614;BC069110;BC069370;BC069490;BC103974;BC103975;CH471078;DQ082727;DQ082729;M64269;M69136;M69137;NM_001836;S61334;X59072 AAA52019;AAA52020;AAA52021;AAB26828;AAH69110;AAH69370;AAH69490;AAI03975;AAI03976;AAZ06432;AAZ06434;BAG70278;CAA41796;EAW66007;NP_001827;P23946 Hs.135626 1848067;2218706;5119861;5491948 (TG)_(GA)_R1;CMA1-1;GDB:185180;RH69168 CYH;MCT1;MGC119890;MGC119891;chymase OTTHUMP00000178751;alpha-chymase;chymase;chymase 1 preproprotein transcript E;chymase 1 preproprotein transcript I;chymase, heart;chymase, mast cell;mast cell protease I APPROVED protein-coding ENSG00000092009 2097 00346 118938 REVIEWED 1348558 CMD1C cardiomyopathy, dilated 1C (autosomal dominant) 7240710 8823300 1219 2103 601493;609452 1346621 CMD1B cardiomyopathy, dilated 1B (autosomal dominant) 7240710 7573045 1218 2102 1343233 CMD1E cardiomyopathy, dilated 1E (autosomal dominant) 7240710 8567977 1221 2105 113900;272120;601144;601154;603829;603830;608567;614022 1345968 CMD1D cardiomyopathy, dilated 1D (autosomal dominant) 7240710 8521556 1220 2104 115195;601494;612422 1349190 CMD1J cardiomyopathy, dilated 1J (autosomal dominant) 7240710 10769282 56002 2109 601316;605362 1347211 CMD1H cardiomyopathy, dilated 1H (autosomal dominant) 7240710 23459 1341159 D2S2339 2108 1353978 CMD1F cardiomyopathy, dilated 1F (autosomal dominant) 9382102 1222 2106 1344958 CMH2 cardiomyopathy, hypertrophic 2 7240710 7981753 1227 2114 115195;601494;612422 1352561 CMD1K cardiomyopathy, dilated 1K (autosomal dominant) 7240710 11085912 65014 1334678;1338117 D6S1644;D6S1694 14541 1348233 CMH3 cardiomyopathy, hypertrophic 3 7240710 1228 2115 115196;611878 1343665 CMD2A cardiomyopathy, dilated 2A (autosomal recessive) 7240710 1224 2110 115210;611880;613286;613690 1348222 CMDJ craniometaphyseal dysplasia, Jackson type (dominant) 7240710 1225 2112 118600;123000 1349386 CMM cutaneous malignant melanoma/dysplastic nevus 7240710 1531137 1243 2124 155600 1345522 CMR1A cardiomyopathy, restrictive 1A (autosomal dominant) 1245 2126 1601986 CMC2 COX assembly mitochondrial protein 2 homolog (S. cerevisiae) 16 16 16 q23.2 65308104 65338903 - 79567200 79597991 - 81009699 81040502 - 6480464 15489334;12477932;19844255;20379614;21424380;20220131;21942715;21139048 56942 H3BN28;H3BNN8;H3BP68;H3BPP2;H3BPT0;H3BQQ1;H3BRC3;H3BTB6;Q9NRP2 ABBA01016986;AC009079;AC092718;AF201935;AK123193;AMYH01007847;BC032631;CH471114;NM_020188 AAF86871;AAH32631;ABM81706;ABM84865;EAW95557;EAW95558;EAW95559;EAW95560;EAW95561;NP_064573;Q9NRP2 Hs.55028 1685550;1736566;2134372;2141191 D16S2559E;RH64945;RH67804;RH68439 2310061C15Rik;C16orf61;DC13 COX assembly mitochondrial protein 2 homolog;OTTHUMP00000174970;hypothetical protein LOC56942;uncharacterized protein C16orf61 APPROVED protein-coding 24447 16783 VALIDATED 1322088 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development and N-glycosylation is a common post-translational modification during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase. [provided by RefSeq, Jul 2012] 12 12 12 p12.1 27353627 27373064 + 22090426 22109869 + 22199110 22218608 + 1580863;6480464;6907045 16344560;15489334;14702039;12477932;12136098;11893746;11602804;11546777;9689047;8889549;8889548;8125298;7566098;19666032;21116278;21832049;21139048;21890473 55907 F5GYM0;F5H296;Q8NFW8 ABBA01067978;ABBA01067979;AC007671;AC092862;AF271388;AF397212;AJ326388;AK022927;AK222981;AL832975;AMYH01004321;BC016609;BM671960;CH471094;DA344740;DB527942;NM_018686 AAF76203;AAH16609;AAM90580;ADZ16094;BAB14311;BAD96701;CAH56346;EAW96464;EAW96465;EAW96466;NP_061156;Q8NFW8 Hs.311346 1726027;2109169;2151936 CMAS_4595;G62289;STS-W85899 CSS CMP-N-acetylneuraminic acid synthase;CMP-N-acetylneuraminic acid synthetase;CMP-Neu5Ac synthetase;CMP-NeuNAc synthase;CMP-NeuNAc synthetase;CMP-sialic acid synthetase;N-acylneuraminate cytidylyltransferase;OTTHUMP00000240081;OTTHUMP00000240082;cytidine 5'-monophosphate N-acetylneuraminic acid synthetase APPROVED protein-coding ENSG00000111726 18290 04501 603316 REVIEWED 1352657 CMR2A cardiomyopathy, restrictive 2A (autosomal recessive) 1246 2127 1344628 CMR3A cardiomyopathy, restrictive 3A (X-linked) 1247 2128 1345833 CMT1A Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) 7240710 1677316 1248 2129 118220;118300;139393;145900;162500;180800 1352144 CMT2B Charcot-Marie-Tooth neuropathy 2B 7240710 1250 2132 600882 1348357 CMT4A Charcot-Marie-Tooth neuropathy 4A 7240710 1251 2133 214400;607706;607831;608340 2308876 CMC4 C-x(9)-C motif containing 4 homolog (S. cerevisiae) This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009] X X q28 154448614 154458264 - 154289897 154299547 - 8361760;16381901;15489336;15489334;12477932;11181995;11076863;9405159;7970717;7784073;1303175;18029348;20922212 100272147 P56277 ABBA01029112;ABBA01029113;ABBA01029114;ABBA01029115;AMYH01023322;BC002600;BG707795;BT006749;BX470111;CH471172;NM_001018024;X64644;Z24459 AAH02600;AAP35395;CAA80829;CAL38333;EAW72639;NP_001018024;P56277 Hs.6917 1646269;1802912;1813316;1813462;1815618;1817474;1820278;1820344;1820478;1824090;1824486;1826778;1826882;1828672;1831506;1843464;2103162;2103164;2103166;2103168;2103170;2103172;2103174;2103176;2103178;2170335;2189485;2217648;5014475 D7S2905;ECD02345;ECD07679;ECD07752;ECD08846;ECD09787;ECD11213;ECD11247;ECD11314;ECD13141;ECD13341;ECD14504;ECD14556;ECD15463;ECD16890;ECD22941;MARC_7353-7354:992008374:4;MTCP1_2941;SHGC-2526;STS-AA029308;stSG604427;stSG604428;stSG604429;stSG604430;stSG604431;stSG604432;stSG604433;stSG604434;stSG604435 C6.1B;MGC2069;MTCP1;MTCP1B;MTCP1NB;p8;p8MTCP1 MTCP-1 type A;OTTHUMP00000015489;cx9C motif-containing protein 4;mature T-cell proliferation 1 neighbor protein;mature T-cell proliferation 1, isoform p8;mature T-cell proliferation-1 type A;protein p8 MTCP-1 APPROVED protein-coding ENSG00000182712 35428 REVIEWED 1603294 CMIP c-Maf inducing protein This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 16 16 16 q23 65776243 66042401 + 80036395 80302866 + 81478775 81745367 + 6480464 19019440;16341674;15128042;14702039;12939343;12477932;11214970;20484117;19646677;20018188;20200355;20379614;21493956;21457949;20972266;21139048;21890473;21906983;21987572;22507836;20686565;22158537;22479202;22505724 80790 Q8IY22 AB051481;ABBA01016957;ABBA01016958;ABBA01016959;ABBA01016960;ABBA01016961;ABBA01016962;ABBA01016963;AC092135;AC092139;AC099480;AC099524;AK096598;AK304418;AMYH01007852;AMYH01007853;AMYH01007854;AY172689;BC038113;BM789770;CH471114;CV570964;NG_029839;NM_030629;NM_198390 AAH38113;AAO17720;BAB21785;BAH14178;EAW95527;EAW95528;EAW95529;NP_085132;NP_938204;Q8IY22 Hs.721240 1335598;1340422;1643782;1677262;1690620;1690622;1728575;1750713;1760107;1764247;1764365;1766433;1766811;1773369;1784712;1792814;2117201;2162233 D16S505;D16S511;G63579;GAAT-P8500;PMC164657P3;RH91115;RH94128;RH98800;SHGC-107750;SHGC-112199;SHGC-147869;SHGC-147963;SHGC-149767;SHGC-152162;SHGC-152182;SHGC-30303;SHGC-60674;WI-10802 KIAA1694;TCMIP C-Maf-inducing protein;c-Mip;tc-Mip;truncated c-Maf-inducing protein APPROVED protein-coding ENSG00000153815 24319 10839 610112 REVIEWED 1602074 CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 2 2 2 p25.2 6901418 6918887 - 6905902 6923387 - 6980684 7006766 - 5133256;5133255;6480464;6907045 192455;20136355 17999954;16344560;12477932;18498354;20379614;18029348;22505724 129607 Q5EBM0 ABBA01023895;ABBA01023896;AC017076;AK127983;AK308509;AMYH01010087;BC016969;BC089425;BC132821;BC141802;BC144202;BX463706;CH471053;DA501203;NM_001256477;NM_001256478;NM_207315;NR_046236 AAH16969;AAH89425;AAI32822;AAI41803;AAI44203;BAC87217;EAX01036;EAX01037;NP_001243406;NP_001243407;NP_997198;Q5EBM0 Hs.7155 1645205;1646458;1647186 SHGC-31892;WI-12597;WI-19914 TMPK2;TYKi;UMP-CMPK2 OTTHUMP00000200304;OTTHUMP00000200305;UMP-CMP kinase 2, mitochondrial;cytidylate kinase 2;hypothetical protein loc129607;mitochondrial UMP-CMP kinase;thymidine monophosphate kinase 2;thymidylate kinase family LPS-inducible member APPROVED protein-coding ENSG00000134326 27015 11233 611787 VALIDATED 1348723 CMKLR1 chemokine-like receptor 1 12 12 q24.1 107209477 107257212 - 108681821 108733094 - 1580863;6480464 9603476;9425281;9144535;19168032;18564921;16904155;16344560;15753205;15489334;15342556;14759258;12477932;8976386;14702039;17558413;19906641;20044979;20237496;20379614;20932654;19443732;21192818;14530373;21483023;21959042;21346723;21715684;22688191;23495698;22610747;20921899;22768214;22842622 1240 F8VSC8;F8VYN7;Q99788 AB065871;AB112777;ABBA01053139;ABBA01053140;AC009729;AC063957;AK126405;AK291800;AMYH01004728;AY497547;BC106927;BC106928;BP328503;BT019556;BT019557;CH471054;DA466082;DA939526;L12406;NM_001142343;NM_001142344;NM_001142345;NM_004072;U79526;U79527;Y14838 AAC51258;AAC51259;AAI06928;AAI06929;AAQ62778;AAR90850;AAV38363;AAV38364;BAC06089;BAF34667;BAF84489;CAA75112;EAW97810;EAW97811;NP_001135815;NP_001135816;NP_001135817;NP_004063;Q99788 Hs.197143 1337955;1712496;1712500;1721535;1767918;1782052;2186865 D12S1605;G54197;G54199;G59772;RH47923;SHGC-152880;STS-U79526 CHEMERINR;ChemR23;DEZ;MGC126105;MGC126106;RVER1 G-protein coupled receptor ChemR23;G-protein coupled receptor DEZ;OTTHUMP00000241576;OTTHUMP00000241577;OTTHUMP00000241578;OTTHUMP00000241579;chemerin receptor;chemokine receptor-like 1;chemokine-like receptor 1;orphan G-protein coupled receptor, Dez;resolvin E1 receptor protein-coding ENSG00000174600 2121 03829 602351 VALIDATED 1316732 CMTM1 CKLF-like MARVEL transmembrane domain containing 1 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011] 16 16 16 q21 51106868 51119612 + 65157795 65170539 + 66600294 66613038 + 1580863;6480464 15778092;15147728;12782130;12477932;20237496 113540 E9PAX0;E9PIL3;H0YEC2;Q96JC2 ABBA01025408;AC010542;AF278576;AF278577;AMYH01007739;AY174118;AY174119;AY174120;AY174121;AY174122;AY174123;AY174124;AY174125;AY174126;AY174127;AY174128;AY174129;AY174130;AY174131;AY174132;AY174133;AY174134;AY174135;AY174136;AY174137;AY174138;BC018586;BC028676;BC057852;CH471092;DN992496;DQ309766;DQ355985;NM_052999;NM_181268;NM_181269;NM_181270;NM_181271;NM_181272;NM_181283;NM_181296 AAH57852;AAK73015;AAK73016;AAN73227;AAN73228;AAN73229;AAN73230;AAN73231;AAN73232;AAN73233;AAN73234;AAN73235;AAN73236;AAN73237;AAN73238;AAN73239;AAN73240;AAN73241;AAN73242;AAN73243;AAN73244;AAN73245;AAN73246;AAN73247;ABC33727;ABC86984;EAW83023;EAW83024;EAW83025;EAW83026;EAW83027;EAW83028;EAW83029;NP_443725;NP_851785;NP_851786;NP_851787;NP_851788;NP_851789;NP_851800;NP_851813;Q8IZ96 Hs.15159;Hs.698621;Hs.722591 1771759;5020635;5022578;5022651;5037552 D11S2921;D1S1423;D7S3207;D8S2279;SHGC-36487 CKLFH;CKLFH1;CKLFSF1;MGC71870 CKLF-like MARVEL transmembrane domain-containing protein 1;OTTHUMP00000174787;OTTHUMP00000174788;OTTHUMP00000174789;OTTHUMP00000233277;OTTHUMP00000233280;OTTHUMP00000233285;OTTHUMP00000233286;OTTHUMP00000233287;OTTHUMP00000235187;chemokine-like factor super family 1;chemokine-like factor superfamily 1;chemokine-like factor superfamily member 1;chemokine-like factor-like protein CKLFH1 APPROVED protein-coding ENSG00000089505 19172 07433 607884 REVIEWED 1604360 CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012] 1 1 p32 47572175 47617098 + 47799469 47844511 + 5133252;5133250;5133414;634248;6480464;6907045 21642870;16400681;12678497;10581173 10462544;17608725;16710414;15606899;15550676;15489334;15163660;12694191;12477932;11912132;11681623;10931946;8313870;8125298;1286669;11453085;172293;19568409;220950;21559290;19322201;21139048;21890473;21906983;22838950;23000965;22505724 51727 B2R6S5;E9PJD2;P30085;Q5T0D2 ABBA01050819;ABBA01050820;ABBA01050821;ABBA01050822;ABBA01050823;ABBA01050824;AF070416;AF087865;AF110643;AF112216;AF259961;AK025258;AK223014;AK293238;AK294294;AK298502;AK312693;AL513322;AL607122;AMYH01000594;BC014961;BC017806;CH471059;DB494965;NM_001136140;NM_016308;NR_046394;NR_046395 AAD48583;AAF17204;AAF17709;AAG22609;AAH14961;AAP97174;ABM83139;ABM86334;ABM86335;BAD96734;BAG35572;BAG56775;BAG57577;BAG60709;EAX06869;EAX06870;EAX06871;NP_001129612;NP_057392;P30085 Hs.731647 1687528;1691818;1736626;1787850;2177597 AL033960;D1S2073E;RH69525;SHGC-132626;SHGC-36697 CMK;CMPK;RP11-511I2.1;UMK;UMP-CMPK;UMPK OTTHUMP00000009565;OTTHUMP00000039186;OTTHUMP00000231599;UMP-CMP kinase;UMP/CMP kinase;UMP/CMPK;cytidylate kinase;deoxycytidylate kinase;uridine monophosphate kinase;uridine monophosphate/cytidine monophosphate kinase APPROVED protein-coding ENSG00000162368 18170 18258 191710 REVIEWED 1601841 CMSS1 cms1 ribosomal small subunit homolog (yeast) 3 3 3 q12.1 97925790 98288081 + 101019371 101380137 + 99536678 99897476 + 6480464 15489334;14702039;12477932;19160420;19615732;20379614;17207965;21139048;21145461;22863734 84319 C9IY68;C9J384;F8WC72;H7C515;Q9BQ75 ABBA01061795;ABBA01061796;ABBA01061797;ABBA01061798;ABBA01061799;ABBA01061800;ABBA01061801;AC024938;AC069222;AC117419;AC129803;AC130887;AK124387;AK291392;AK300704;AK312483;AMYH01013357;BC006475;BC006512;NM_001167924;NM_032359 AAH06475;AAH06512;ADQ31877;BAF84081;BAG35386;BAG54034;BAG62383;NP_001161396;NP_115735;Q9BQ75 Hs.581320 1337933;1658071;1674834;1682840;1718683;1719297;1735120;1754775;1784880;1784882;1784902;1851290;2109245;2114256;2114350;2114932;2116934;2130218;2145674;5095004;5124786 D3S2419;D3S2791E;D3S4054;DOC1_9246;FILIP1L;RH123032;RH123371;RH16583;RH41998;RH48251;RH92520;RH98893;SHGC-33580;SHGC-70123;SHGC-70124;SHGC-77152;SHGC-77163;SHGC-82232;STS-H73572;STS-N32498;WI-8558 C3orf26;MGC4308 OTTHUMP00000213941;OTTHUMP00000213942;OTTHUMP00000213945;hypothetical protein LOC84319;protein CMSS1;uncharacterized protein C3orf26 APPROVED protein-coding ENSG00000184220 28666 11351 VALIDATED 1320683 CMTM4 CKLF-like MARVEL transmembrane domain containing 4 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 16 q21-q22.1 51155146 51176975 - 65206154 65288111 - 66648653 66730610 - 1302596;1580863;6480464 12782130 14702039;12477932;20213316 146223 J3QRP2;Q8IZR5 ABBA01025409;ABBA01025410;ABBA01025411;ABBA01025412;AC018557;AF479814;AF521889;AF521890;AK000855;AK126493;AL157468;AMYH01007740;AMYH01007741;AW207043;BC093679;CH471092;CR933620;NM_178818;NM_181521 AAH93679;AAN73436;AAN73845;AAN73846;EAW83036;EAW83037;NP_848933;NP_852662;Q8IZR5 Hs.643961 1668436;1678421;1740145;1755993;1855623;2128818;2141705;2153928;2156593;2218382;5093516 1626;A009Q07;CKLFSF4_4578;D16S2656;D16S3013;G32764;RH70359;RH78139;SHGC-142811;SHGC-60722;STS-T77891 CKLFSF4 CKLF-like MARVEL transmembrane domain-containing protein 4;OTTHUMP00000174785;chemokine-like factor super family 4;chemokine-like factor superfamily member 4 APPROVED protein-coding ENSG00000183723 19175 07435 607887 REVIEWED 1342693 CMTM2 CKLF-like MARVEL transmembrane domain containing 2 This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008] 16 16 16 q21 51119925 51128752 + 65170852 65179679 + 66613351 66622178 + 6480464 17334588;15896670;15778092;15489334;14702039;12782130;12477932;21034562;21832049;22901147;18029348 146225 H3BMC0;Q8TAZ6 ABBA01025408;AC010542;AF479260;AK098598;AMYH01007739;AY862139;BC025354;BI830241;CH471092;NM_001199317;NM_144673 AAH25354;AAN73038;AAW51946;ABM83762;ABW03536;BAC05345;EAW83030;NP_001186246;NP_653274;Q8TAZ6 Hs.195685 CKLFSF2;MGC39436 CKLF-like MARVEL transmembrane domain-containing protein 2;OTTHUMP00000174786;OTTHUMP00000235188;chemokine-like factor super family 2;chemokine-like factor superfamily 2;chemokine-like factor superfamily member 2 APPROVED protein-coding ENSG00000140932 19173 07434 607885 REVIEWED 1318724 CMTM3 CKLF-like MARVEL transmembrane domain containing 3 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 16 16 16 q21 51144695 51154288 + 65195703 65205296 + 66637935 66647795 + 6480464 18402773;17002874;15489334;15087455;14702039;12782130;12477932;19509237;21832049;22779921;21900206 123920 B3KQJ8;H3BN06;H3BU39;H3BUD5;I3L3C2;J3KSM1;J3KSR6;Q96MX0 ABBA01025408;ABBA01025409;AC018557;AF479813;AK056324;AK075075;AMYH01007739;AMYH01007740;AY166714;BC023509;BC023591;BC036042;BC040227;BC047701;BI457147;CH471092;CT001840;NM_144601;NM_181553;NR_037613;NR_037619 AAH23509;AAH23591;AAH36042;AAH40227;AAH47701;AAN73435;AAN75573;BAB71150;BAG52060;EAW83031;EAW83032;EAW83033;EAW83034;EAW83035;NP_653202;NP_853531;Q96MX0 Hs.298198 1647007;1666103;1738855;1849236;1849238 A001Z40;D16S2901;D16S3311;G19828;SHGC-60820 BNAS2;CKLFSF3;FLJ31762;MGC51956 CKLF-like MARVEL transmembrane domain-containing protein 3;OTTHUMP00000174790;chemokine-like factor super family 3;chemokine-like factor superfamily member 3 APPROVED protein-coding ENSG00000140931 19174 16259 607886 REVIEWED 1343738 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 7240710 2245309 1254 2138 1353077 CMTX2 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) 7240710 1253 2137 1316008 CMTM5 CKLF-like MARVEL transmembrane domain containing 5 This gene belongs to the chemokine-like factor gene superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3708728 3711692 + 22915857 22918821 + 23846017 23848981 + 1580863;6480464 19124004;17908965;15489334;14702039;12782130;12477932;19577543;20356458;17207965;20721248;20416169;21168207;21841490 116173 C9JAI6;Q96DZ9 ABBA01061320;AF479262;AF527413;AF527414;AF527948;AF527949;AK094840;AK289886;AL049829;AMYH01005604;AY820135;BC013109;BC029729;CH471078;CQ893587;NM_001037288;NM_138460 AAH13109;AAN73040;AAQ08985;AAQ08986;AAQ09008;AAQ09009;AAV69870;ADQ31802;BAC04432;BAF82575;CAH68715;EAW66156;EAW66157;EAW66158;EAW66159;EAW66160;NP_001032365;NP_612469;Q96DZ9 Hs.99272 1679956;1796084 IL17E_757;RH92419 CKLFSF5;FLJ37521 CKLF-like MARVEL transmembrane domain-containing protein 5;OTTHUMP00000066724;OTTHUMP00000164597;OTTHUMP00000246239;OTTHUMP00000246240;OTTHUMP00000246241;chemokine-like factor super family 5;chemokine-like factor superfamily member 5 APPROVED protein-coding ENSG00000166091 19176 06986 607888 REVIEWED 1352367 CNA1 cornea plana 1 (autosomal dominant) 7240710 1255 2139 1351246 CMTM8 CKLF-like MARVEL transmembrane domain containing 8 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 32217566 32349242 + 32255175 32386817 + 32280171 32411813 + 1580863;6480464 22337876;19308021;17681841;17149703;16806010;16263120;15489334;12782130;12477932;17207965;18711365;20379614;21254220;22174851 152189 Q8IZV2 ABBA01024941;ABBA01024942;ABBA01024943;ABBA01024944;ABBA01024945;AC097639;AC103558;AF474370;AMYH01013058;AY598783;BC041390;CH471055;NM_178868 AAH41390;AAN73034;AAT11020;ADQ32514;EAW64423;NP_849199;Q8IZV2 Hs.154986 1768967;1847868;2137889 AFM087XD3;D3S4186;D3S4209 CKLFSF8;CKLFSF8-V2 CKLF-like MARVEL transmembrane domain-containing protein 8;OTTHUMP00000161318;OTTHUMP00000208827;chemokine-like factor super family 8;chemokine-like factor superfamily 8;chemokine-like factor superfamily member 8 APPROVED protein-coding ENSG00000170293 19179 06989 607891 REVIEWED 1317145 CMTM6 CKLF-like MARVEL transmembrane domain containing 6 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 32459890 32481492 - 32497808 32519407 - 32522804 32544403 - 1580863;6480464 15489334;14702039;12782130;12477932;21900206;21139048;19322201;22053931 54918 Q9NX76;Q9P1E2 ABBA01024939;AC104306;AF116694;AF479261;AK000403;AK172793;AMYH01013059;AMYH01013060;BC002797;BC009187;BC027472;BC042995;CH471055;CR457231;NM_017801 AAF71114;AAH02797;AAN73039;BAA91141;CAG33512;EAW64429;EAW64430;NP_060271;Q9NX76 Hs.380627;Hs.731820 1653120;1717537;1735338;1770353;2109151;2144883;2150284;5022322;5093460 A009P12;CKLFSF6_9845;D11S2560;D3S2961E;G32730;RH122073;SHGC-76789;SHGC-76792;SHGC-76811 CKLFSF6;FLJ20396;PRO2219 CKLF-like MARVEL transmembrane domain-containing protein 6;OTTHUMP00000161312;chemokine-like factor super family 6;chemokine-like factor superfamily 6;chemokine-like factor superfamily member 6 APPROVED protein-coding ENSG00000091317 19177 06987 607889 REVIEWED 1313855 CMTM7 CKLF-like MARVEL transmembrane domain containing 7 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. The protein encoded by this gene is highly expressed in leukocytes, but its exact function is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p22.3 32370594 32433419 + 32408167 32471337 + 32433163 32496333 + 6480464 22363743;15489334;14702039;12782130;12477932;20400778;21139048 112616 F8WDZ3;H0YFU6;H0YGW1;Q96FZ5 ABBA01024941;AC098475;AF479263;AK055554;AK308878;AL832450;AMYH01013058;AMYH01013059;AY174113;BC010116;CH471055;DQ132881;NM_138410;NM_181472 AAH10116;AAN73041;AAO44955;AAZ57435;CAD38626;EAW64424;EAW64425;EAW64426;EAW64427;EAW64428;NP_612419;NP_852137;Q96FZ5 Hs.440494 1665693;1787946;2161756;2187582 SHGC-173738;SHGC-76805;STS-R72760;WI-17396 CKLFSF7;FLJ30992 CKLF-like MARVEL transmembrane domain-containing protein 7;OTTHUMP00000208833;OTTHUMP00000208834;OTTHUMP00000238463;chemokine-like factor super family 7;chemokine-like factor super family member 7 variant 2;chemokine-like factor superfamily 7;chemokine-like factor superfamily member 7 APPROVED protein-coding ENSG00000153551 19178 06988 607890 REVIEWED 1354443 CNC Carney complex, multiple neoplasia and lentiginosis 7240710 8609225 1257 1337841;7186151;7186490 D2S391;D2S393 2141 1601859 CMTR2 cap methyltransferase 2 16 16 16 q22.2 55626986 55634292 - 69873704 69881010 - 71316203 71323509 - 6480464 16344560;14702039;12477932;21310715;21139048;21890473;21906983;23000965 55783 H3BNZ8;H3BR19;H3BS00;H3BTZ7;H3BUK2;Q8IYT2 AA968997;ABBA01032108;AC106736;AF458590;AK000289;AK002033;AK023183;AK226169;AK315056;AMYH01007787;BC034468;BC035005;BX648660;CH471166;DB227997;DB240113;NM_001099642;NM_018348 AAH34468;AAH35005;AAM49718;BAA91058;BAA92047;BAB14452;BAG37532;EAW59246;EAW59247;NP_001093112;NP_060818;Q8IYT2 Hs.72782 1754707;2131781;2149793 RH48685;SHGC-133070;SHGC-63647 AFT;FLJ11171;MTr2 OTTHUMP00000174919;adrift homolog;ftsJ methyltransferase domain-containing protein 1;protein adrift homolog APPROVED protein-coding ENSG00000180917 25635 08560 VALIDATED 1603547 CNBD1 cyclic nucleotide binding domain containing 1 8 8 8 q21.3 84072949 84589687 + 87947792 88464071 + 87878676 88394955 + 18825932;14702039;12477932;20379614;23568457 168975 H0YAN5;H0YC59;Q8NA66 ABBA01037366;ABBA01037367;ABBA01037368;ABBA01037369;ABBA01037370;ABBA01037371;AC011146;AC025089;AC025522;AC090572;AC093333;AC100799;AK093121;AMYH01018862;AMYH01018863;AMYH01018864;BC117326;BC117328;CH471060;NM_173538 AAI17327;AAI17329;BAC04062;EAW91648;NP_775809;Q8NA66 Hs.246284 1334907;1728031;1750899;1753749;1761335;1786524;1852606;2129713;2155577 A008Q47;D8S1499;D8S1707;G32173;G63286;SHGC-104681;SHGC-106863;SHGC-145343;SHGC-89124 FLJ35802 OTTHUMP00000224710;cyclic nucleotide-binding domain-containing protein 1 protein-coding ENSG00000176571 26663 08192 PROVISIONAL 1317204 CMTR1 cap methyltransferase 1 6 6 6 p21.2 38955882 39004268 + 37508991 37557262 + 37400907 37449284 + 1580863;6480464 18533109;17081983;16344560;15489334;14574404;12477932;7788527;21145461;20713356;18029348;21139048;21890473;23000965;22505724 23070 H0Y4T0;H0YCQ1;Q5T7F5;Q5T7F8;Q8N1G2 ABBA01038285;AK000348;AK025809;AK292564;AL353597;AMYH01016282;BC010731;BC031890;CH471081;D43949;DA508836;NM_015050 AAH10731;AAH31890;BAA07893;BAF85253;EAX03946;NP_055865;Q8N1G2 Hs.520102 1339603;1689540;2150971;2154707;2179300;2181372 D6S1114E;D6S1602;D6S2055;RH25310;RH66134;WI-15296 FLJ22156;KIAA0082;MTr1;hMTr1 ISG95;OTTHUMP00000016324;S-adenosyl-L-methionine-dependent methyltransferase FTSJD2;cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1;cap1 2'O-ribose methyltransferase 1;ftsJ methyltransferase domain-containing protein 2;interferon-stimulated gene 95 kDa protein APPROVED protein-coding ENSG00000137200 21077 08305 VALIDATED 1321357 CMYA5 cardiomyopathy associated 5 5 5 5 q14.1 74885440 74997067 + 79021415 79131805 + 78985659 79096049 + 6480464 18344630;17872945;17353931;16407236;14702039;14688250;12477932;20634290;19140017;22863883;21295948;19343720;20838396 202333 Q6P5U3 ABBA01062026;ABBA01062027;ABBA01062028;AC008482;AC008496;AC026779;AC109488;AF177292;AF533705;AK092699;AK096453;AK123466;AL359338;AL831966;AL831968;AL831986;AL832021;AL832347;AL832368;AL832376;AL834252;AMYH01015440;AMYH01015441;AMYH01015442;AMYH01015443;BC020856;BC022422;BC022430;BC029434;BC046215;BC062664;BC063134;BC111529;BC111530;BX647452;BX647628;BX647646;CH471084;NM_153610 AAD55265;AAH20856;AAH22422;AAH62664;AAH63134;AAI11530;AAI11531;AAQ09018;CAD38607;CAD38609;CAD38928;CAD91143;CAD91158;CAH10402;CAH10406;EAW95839;NP_705838;Q8N3K9 Hs.482625 1654459;1664922;1695304;1735432;1735454;1768575;1772379;1785332;1853976;2116828;2117864;2137458;2163395;2169040;2183588;2186667;5022586 D5S1566E;D5S1567E;D5S1581E;D5S1588E;G31148;RH16201;RH17877;RH48699;RH65363;RH65727;RH65763;SHGC-112005;SHGC-35966;SHGC-57442;SHGC-63480;SHGC-63481;SHGC-63483 C5orf10;DKFZp451G182;DKFZp451G223;SPRYD2;TRIM76 2310076E16Rik;OTTHUMP00000222299;SPRY domain-containing protein 2;cardiomyopathy-associated protein 5;dystrobrevin-binding protein 2;genethonin-3;myospryn;tripartite motif-containing 76;tripartite motif-containing protein 76 protein-coding ENSG00000164309 14305 16728 612193 VALIDATED 730948 CNGA1 cyclic nucleotide gated channel alpha 1 The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 4 4 p12 47632751 47649483 - 47937994 48014961 - 1300380;1580863;6480464;6893549;6907045;7240710;7204690 7479749;12087135;22435804 16382102;15713832;15570217;12693957;12467592;12432397;12388767;12362048;8889549;7683629;7532814;1379636;1372959;1372902;20801516;23032687;20301590 1259 D6R978;D6RCF1;P29973 ABBA01014339;AC096749;AC107068;AK292021;AMYH01014159;CH471069;M84741;NG_009193;NM_000087;NM_001142564;S42457;S76062;W89170;W93472;X64802 AAA52010;AAB22778;AAD14206;AAI40400;AAY40919;BAF84710;CAA46027;EAW93048;EAW93049;NP_000078;NP_001136036;P29973 Hs.1323 1654416;1659670;1791892;1791894;2125539;2137855;2141606;2184636;2218392 CNGA1_4598;D4S3172;D4S915;G34058;PMC129976P1;PMC129976P2;SHGC-59576;SHGC4-1079;WI-18943 CNCG;CNCG1;CNG-1;CNG1;RCNC1;RCNCa;RCNCalpha;RP49 CNG channel alpha-1;CNG-1;OTTHUMP00000218675;OTTHUMP00000223313;OTTHUMP00000223314;cGMP-gated cation channel alpha-1;cyclic nucleotide-gated cation channel 1;cyclic nucleotide-gated channel alpha-1;cyclic nucleotide-gated channel, photoreceptor;interleukin-1 homologue;rod photoreceptor cGMP-gated channel subunit alpha APPROVED protein-coding ENSG00000198515 2148 00445 123825;613756 REVIEWED 1323261 CNBD2 cyclic nucleotide binding domain containing 2 20 20 20 q11.23 31304814 31366608 + 34019943 34082036 + 34556529 34618622 + 6480464 14702039;12477932;11780052;16344560 140894 Q4G141;Q96M20 ABBA01019130;ABBA01019131;ABBA01019132;ABBA01019133;AI191598;AK057454;AL109965;AL359828;AMYH01011877;BC030782;BC057288;BC114634;BC114945;CH471077;DB023698;NM_001207076;NM_080834 AAH30782;AAI14946;BAB71494;EAW76148;EAW76149;NP_001194005;NP_543024;Q96M20 Hs.732697 5014051;5015619;5022200;5022649;5037552 D11S2875;D11S3114;D8S2278;D8S2279;L18426 C20orf152;CNMPD1;MGC138880;dJ954P9.1 OTTHUMP00000030815;OTTHUMP00000030816;cyclic nucleotide (cNMP) binding domain containing 1;cyclic nucleotide-binding domain-containing protein 2;hypothetical protein LOC140894;uncharacterized protein C20orf152 APPROVED protein-coding ENSG00000149646 16145 09838 VALIDATED 1344598 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008] 18 18 q22.3 70352672 70403241 + 72201692 72252261 + 737633;1580863;6480464;6907045;7207213;7207223 12477932;21393041;20851293 7116644;6616870;19373489;18753673;17601992;17601991;17205963;17121880;16965804;16335952;16046297;15489334;14560319;12975309;12473676;11329013;8889548;19577318;19929986;20299368;20332346;20379614;20460427;20711718;20865290;20971102;20979941;23342076;23029420;21832049;21573905;22706107 84735 J3KRP0;J3QQM7;Q96KN2 ABBA01056327;AC009704;AC116904;AJ417564;AK098369;AK131263;AK289916;AK303708;AK308716;AK314572;AMYH01009096;AX139747;AY358756;BC004271;BC110295;BC113512;BC117122;BG202268;BI597577;BM662490;CH471117;H41544;NG_033025;NM_032649 AAI10296;AAI13513;AAI17123;AAQ89116;ADR83013;BAF82605;BAG64692;CAC40015;CAD10388;EAW66559;EAW66560;EAW66561;EAW66562;NP_116038;Q96KN2 Hs.400613 1335010;1777137;1777907 D18S1161;D18S880;WI-15225 CN1;CPGL2;HsT2308;MGC102737;MGC10825;MGC142072 CNDP dipeptidase 1;OTTHUMP00000163751;beta-Ala-His dipeptidase;carnosinase 1;glutamate carboxypeptidase-like protein 2;serum carnosinase APPROVED protein-coding ENSG00000150656 20675 09883;09894 609064 REVIEWED 1314094 CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008] 18 18 18 q22.3 69030559 69057800 + 70314577 70339336 + 72163500 72190689 + 737633;1580863;6480464 12477932 19373489;18753673;15489334;14702039;12473676;17220478;20199107;8889548;22863883;22939629;18781797;21573905;21139048;21890473;21906983;22128300;19805454;23000965;23396134;22410244 55748 J3KRD5;J3KRJ8;J3KSS4;J3KSV5;J3QKQ0;J3QKT2;J3QL02;J3QLU1;J3QQN6;J3QR27;J3QRA8;J3QRD0;J3QRH4;J3QRP4;Q96KP4 ABBA01056327;AC009704;AF258592;AJ347717;AK001262;AK001692;AK001983;AK024471;AK092863;AK097155;AK298309;AK300904;AMYH01009096;AX523938;BC001375;BC003176;BM675304;BQ183399;CH471117;DC313148;DC392026;NM_001168499;NM_018235 AAG23795;AAH01375;AAH03176;BAA91587;BAA91840;BAA92018;BAB15761;BAG53426;BAG60563;BAG62540;CAC69883;CAD56843;EAW66550;EAW66551;EAW66552;EAW66553;EAW66554;EAW66555;EAW66556;EAW66557;EAW66558;NP_001161971;NP_060705;Q96KP4 Hs.149185 1855790;2120199;2125283;2158326;2173402;2175993;5014051;5017170;5022200;5094904 A002Y20;CNDP2;D18S928E;D8S2278;L18426;L29953;RH11622;RH18253;RH18324;SHGC-32075 CN2;CPGL;FLJ10830;FLJ35544;HsT2298;PEPA OTTHUMP00000163752;cytosolic non-specific dipeptidase;cytosolic nonspecific dipeptidase;glutamate carboxypeptidase-like protein 1;peptidase A APPROVED protein-coding 24437 09893 169800 VALIDATED 1603875 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 16 16 16 q12.1 34572289 34584088 + 48616690 48628500 + 50059189 50070999 + 6480464 14702039;12477932;15342556;22134922;19322201 255919 H3BLY8;H3BMF1;H3BN40;H3BUT5;Q8N9A8 ABBA01000883;ABBA01000884;ABBA01000885;AC007610;AF086322;AK095420;AK301610;AK307132;AK307309;AMYH01007657;BC022550;BC036683;BP259769;CH471092;CR933600;FJ516381;HY011229;NM_001281789;NM_153261;NR_104042;NR_104043 AAH22550;AAH36683;ACL36922;BAC04545;BAG63096;CAI45924;EAW82738;EAW82739;EAW82740;EAW82741;NP_001268718;NP_694993;Q8N9A8 Hs.59134 1689115;2155031;2181484 RH99225;SHGC-58241;SHGC-60593 C16orf69;DKFZp313D2416;FLJ38101;NEP1-R1;TMEM188;TMP125 nuclear envelope phosphatase 1-regulatory subunit 1;nuclear envelope phosphatase-regulatory subunit 1;transmembrane protein 188 APPROVED protein-coding ENSG00000205423 26759 08784 REVIEWED 733498 CNBP CCHC-type zinc finger, nucleic acid binding protein This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q21 130371122 130385392 - 128886658 128902810 - 6480464 17353931;2562787;18975316;18804219;17672918;17327219;17068784;16624843;16376058;16344560;16341674;15652222;15489334;15476170;15342556;15261229;14702039;12857921;12477932;11486088;9921867;7896269;7590281;2249857;20360068;21277287;20971734;20102514;20174632;20616365;20301639;21232131;22863883;21224892;19738201;22623428;23000965;21204798;22332444;17725712;23285195;22505724;22407275;23398456 7555 B4DP17;D6RAT4;Q4JGY0;Q4JGY1 ABBA01020929;ABBA01020930;AC108673;AC135587;AF388525;AF388526;AK021693;AK054592;AK292119;AK298154;AK314380;AMYH01013472;AMYH01013473;AY329622;AY436367;BC000288;BC014911;BC093058;BM786378;BP267181;BT019613;BU616793;CH471052;DA606481;DB027227;DQ091187;DQ092366;DQ092367;M28372;NG_011902;NM_001127192;NM_001127193;NM_001127194;NM_001127195;NM_001127196;NM_003418;U19765 AAA61975;AAA91782;AAH00288;AAH14911;AAH93058;AAR11855;AAR89462;AAV38419;AAY89856;AAY96754;AAY96755;BAB70769;BAF84808;BAG37006;BAG60429;EAW79271;EAW79272;EAW79273;EAW79274;EAW79275;EAW79276;EAW79277;NP_001120664;NP_001120665;NP_001120666;NP_001120667;NP_001120668;NP_003409;P62633 Hs.518249 1338641;1341329;1681949;1728935;1735138;1792722;2118203;2134471;2148516;2163009;5015861;5037552;7185938 A008K17;Cnbp;D10S16;D3S1541;D3S1589;D3S2800E;D8S2279;PMC15869P1;RH47204;RH98983;SHGC-32794;SHGC-77307 CNBP1;DM2;FLJ11631;PROMM;RNF163;ZCCHC22;ZNF9 OTTHUMP00000217105;OTTHUMP00000217106;OTTHUMP00000217107;OTTHUMP00000217108;OTTHUMP00000217109;OTTHUMP00000233223;OTTHUMP00000233224;OTTHUMP00000233225;cellular nucleic acid binding protein;cellular nucleic acid-binding protein;erythroid differentiation-related;sterol regulatory element-binding protein;zinc finger protein 273;zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) APPROVED protein-coding 13164 00311 116955 REVIEWED 1350274 CNFN cornifelin 19 19 19 q13.2 39691960 39695233 - 47583011 47586279 - 42891171 42894444 - 1580863;6480464 15147942;15489334;12477932;9115270 84518 Q9BYD5 AB049591;ABBA01040847;AC011497;AK312080;AMYH01009832;BC101197;BC101198;CH471126;NM_032488 AAI01198;AAI01199;BAB40656;BAG35016;EAW57134;NP_115877;Q9BYD5 Hs.148590 PLAC8L2 cornefied envelope protein cornefilin;cornifelin protein-coding ENSG00000105427 30183 16729 611764 VALIDATED 732601 CNGB1 cyclic nucleotide gated channel beta 1 In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 16 16 q13 56475206 56562513 - 57916244 58005020 - 734793;6480464;6893549;6907045;7240710;7204690 11379879;12087135;22435804 8889548;19299621;16382102;15557452;12107411;12048242;11641407;11074001;10466724;9535905;8766832;7682292;7590744;7526403;1821816;20591486;16169070;20126465;20201926;20801516;16159877;21123569;20301590;20467438 1258 AAB32607;H3BN09;H3BQC3;H3BQW3;Q14028 ABBA01025285;ABBA01025286;ABBA01025287;AC010543;AF042498;AMYH01007705;BM672421;BM678849;BQ638084;CH471092;EL945866;L15296;L15297;NG_016351;NM_001135639;NM_001297;U18945;U58837 AAA65619;AAA65620;AAA91633;AAB32607;AAB63387;AAC04830;AAI40365;AAI56723;EAW82957;EAW82958;NP_001129111;NP_001288;Q14028 Hs.147062 1727309;1777444;1853092;2190879 G63062;L17694;MARC_10217-10218:998404657:1;SHGC-32528 CNCG2;CNCG3L;CNCG4;CNG4;CNGB1B;GAR1;GARP;RCNC2;RCNCb;RCNCbeta;RP45 CNG channel beta-1;CNG-4;OTTHUMP00000206726;cyclic nucleotide gated channel (photoreceptor), cGMP gated 3 (gamma)-like;cyclic nucleotide-gated cation channel 4;cyclic nucleotide-gated cation channel beta-1;cyclic nucleotide-gated cation channel gamma;cyclic nucleotide-gated cation channel modulatory subunit;cyclic nucleotide-gated channel beta-1;glutamic acid-rich protein;glutamic-acid-rich protein APPROVED protein-coding ENSG00000070729 2151 07204 600724;613767 REVIEWED 736824 CNGA2 cyclic nucleotide gated channel alpha 2 The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010] X X X q27 151151573 151162391 + 150653874 150664692 + 150903218 150914036 + 1580863;6480464;6893549;7204690 12087135;22435804 12626507;16533895;16382102;15489334;14618336;14604981;12477932;9539801;9512030;7532814 1260 B3KXY3;Q16280 ABBA01037254;ABBA01037255;ABBA01037256;ABBA01037257;AF002992;AK128186;AMYH01023225;BC126302;BC126304;CH471169;NG_016352;NM_005140;S76067 AAD14207;AAI26303;AAI26305;BAG54645;EAW99409;NP_005131;Q16280 Hs.447360 1703896;2218394 CNGA2_4599;SHGC-83601 CNCA;CNCA1;CNG2;FLJ46312;OCNC1;OCNCALPHA;OCNCa CNG channel alpha-2;CNG-2;OTTHUMP00000025880;cyclic nucleotide-gated cation channel 2;cyclic nucleotide-gated channel alpha-2;cyclic nucleotide-gated olfactory channel;cyclic-nucleotide-gated cation channel 2;cyclic-nucleotide-gated olfactory channel APPROVED protein-coding ENSG00000183862 2149 08946 300338 REVIEWED 733295 CNGA3 cyclic nucleotide gated channel alpha 3 This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 q11.2 98329050 98381496 + 98962618 99015064 + 734792;1580863;6480464;6893549;7240710;7204690 11536077;12087135;22435804 9517456;9662398;18636117;18521937;18445228;17693388;17286855;17018579;16961972;16382102;16319819;15815621;15743887;15712225;15489334;15134637;15024024;14757870;12477932;12432397;10888875;9721202;9158143;7532814;21268679;20454696;20549516;19592100;20079539;20506298;20801516;21267001;21911670;21901789;21912902;20301591;17620599;22493484 1261 E9PF93;Q16281 ABBA01073966;ABBA01073967;AC092675;AF065314;AK131300;AK308149;AMYH01010797;BC096298;BC096299;BC096300;CH471127;DQ067459;DQ067460;DQ067461;DQ426863;DR002103;NG_009097;NM_001079878;NM_001298;S76069 AAC17440;AAD14208;AAH96298;AAH96299;AAH96300;AAY24181;BAD18468;EAX01911;NP_001073347;NP_001289;Q16281 Hs.234785 2109171 CNGA3_8266 ACHM2;CCNC1;CCNCa;CCNCalpha;CNCG3;CNG3 CNG channel alpha-3;CNG-3;OTTHUMP00000161120;OTTHUMP00000203132;OTTHUMP00000203133;cone photoreceptor cGMP-gated channel alpha subunit;cone photoreceptor cGMP-gated channel subunit alpha;cyclic nucleotide-gated cation channel alpha-3;cyclic nucleotide-gated channel alpha-3 APPROVED protein-coding ENSG00000144191 2150 02504 216900;600053 REVIEWED 1603715 CNGA4 cyclic nucleotide gated channel alpha 4 CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008] 11 11 11 p15.4 6379405 6384782 + 6216910 6222235 + 6260322 6265707 + 6480464;6893549;7204690 12087135;22435804 16382102;14702039;12649326;12477932;11764791;11739959;16344560 1262 B4DYQ8;Q8IV77 ABBA01028663;AC022762;AK122736;AK302551;AMYH01003366;BC040277;BC106935;BC106936;CH471064;DB238337;NM_001037329 AAH40277;AAI60170;BAG63820;EAW68736;NP_001032406;Q8IV77 Hs.434618 2218396 CNGA4_4600 CNCA2;CNG-4;CNG4;CNG5;CNGB2;MGC126168;MGC126169;OCNC2;OCNCBETA;OCNCb CNG channel alpha-4;CNG-4;CNG4;OTTHUMP00000229567;cyclic nucleotide gated channel beta 2;cyclic nucleotide-gated cation channel alpha-4;cyclic nucleotide-gated channel alpha-4 APPROVED protein-coding ENSG00000132259 2152 18724 609472 VALIDATED 1352659 CNIH2 cornichon homolog 2 (Drosophila) The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 11 11 11 q13.2 63367976 63371496 + 65802272 65808259 + 66045672 66051685 + 737633;1580863;6480464 12477932 17229890;15489334;17207965;21926972;21172611;21343286;21543622;22211840;22815494;23103966 254263 E9PIT8;E9PJQ8;E9PS15;Q6PI25 ABBA01024086;ABBA01024087;ABBA01024088;AI928591;AMYH01003730;AMYH01003731;AMYH01003732;AP001107;AY726585;BC047953;BM547951;CH471076;DR760677;NM_182553;NR_073078;NR_073079 AAH47953;AAI60083;ADQ32996;EAW74508;NP_872359;Q6PI25 Hs.437072 1850369 WI-14316 CNIH-2;Cnil;MGC50896 OTTHUMP00000234423;OTTHUMP00000234424;cornichon-like protein;protein cornichon homolog 2 APPROVED protein-coding ENSG00000174871 28744 13078 611288 REVIEWED 1352344 CNGB3 cyclic nucleotide gated channel beta 3 This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010] 8 8 q21.3 87655277 87825017 - 87586163 87755903 - 1600870;1580863;6480464;6893549;7240710;7204690 10958649;12087135;22435804 15657609;10888875;17652762;17651254;17265047;17018579;16382102;16379026;16319819;15712225;15223812;15161866;15134637;14757870;12815043;12730238;10330355;1347967;20454696;20378608;12477932;19592100;19767295;20079539;20379614;20801516;21267001;20301591 54714 H0YAZ4;Q9NQW8 ABBA01037364;ABBA01037365;AC013751;AC090572;AF228520;AF272900;AL713036;AMYH01018860;AMYH01018861;BC150601;BX118844;CH471060;NG_016980;NM_019098 AAF80179;AAF86274;AAI50602;EAW91644;EAW91645;EAW91646;NP_061971;Q9NQW8 Hs.154433 1341275;1664383;1855014;1856422 D8S167;G17220;RH66511;RH66512 ACHM1;ACHM3;RMCH;RMCH1 CNG channel beta-3;OTTHUMP00000224709;cone photoreceptor cGMP-gated cation channel beta-subunit;cyclic nucleotide-gated cation channel beta-3;cyclic nucleotide-gated cation channel modulatory subunit APPROVED protein-coding ENSG00000170289 2153 05468 248200;262300;605080 REVIEWED 1323800 CNIH cornichon homolog (Drosophila) 14 14 14 q22.2 34943177 34957678 - 53963397 53977898 - 54893647 54908148 - 1580863;6480464 22211840;10209299;17607000;16303743;15489334;12975309;12477932;11042152;23103966;23259602 10175 A8MVW4;B2R4P1;G3V3B2;G3V474;G3V4K0;G3V5P8;G3V5Q6;O95406 ABBA01018195;AF070654;AF104398;AK074781;AK307074;AK311897;AL359792;AMYH01005742;AY358635;BC103741;BG503618;BQ233425;BQ937490;BX248284;CH471061;CQ782718;NM_005776 AAC98388;AAD20960;AAI03742;AAQ88998;BAG34838;BAG52000;CAD62612;CAF85952;EAW80635;EAW80636;EAW80637;NP_005767;O95406 Hs.294603 1659668;1689177;1690506;1797414 CNIH_2196;RH81043;RH93774;SHGC-64338 CNIH1;CNIL;MGC117156;TGAM77 OTTHUMP00000178994;OTTHUMP00000244846;OTTHUMP00000244848;OTTHUMP00000244849;OTTHUMP00000244851;T-cell growth-associated molecule 77;cornichon-like;protein cornichon homolog protein-coding ENSG00000100528 19431 16730 611287 VALIDATED 1316799 CNKSR3 CNKSR family member 3 6 6 6 q25.2 155460772 155566082 - 154768125 154873445 - 154726433 154831753 - 6480464 14702039;12477932;22797727;15509766;19567370;20379614;23357503;22457146;21890473;22085542;22451204;22851176 154043 C9IZX4;C9JN62;Q5T4Y7;Q5T4Y8;Q6P9H4 ABBA01025594;AK055911;AK309680;AL357075;AMYH01016756;AY328891;AY328892;AY328893;AY328894;BC060761;CH471051;NM_173515 AAH60761;AAQ92306;AAQ92307;AAQ92308;AAQ92309;BAB71044;EAW47699;NP_775786;Q6P9H4 Hs.16064 1757727;1758071;1857757;2184594;5114378 RH35924;RH79081;SHGC-146366;SHGC-147273;SHGC-33591 FLJ31349;MAGI1;RP11-486M3.1 CNK homolog protein 3;CNK3;OTTHUMP00000017466;OTTHUMP00000212053;OTTHUMP00000212054;connector enhancer of KSR 3;connector enhancer of kinase suppressor of ras 3;maguin-like protein;membrane associated guanylate kinase interacting protein-like 1;membrane associated guanylate kinase, WW and PDZ domain containing 1;membrane-associated guanylate kinase-interacting protein-like 1 protein-coding ENSG00000153721 23034 14349 VALIDATED 5013928 CNN2P1 calponin 2 pseudogene 1 22 22 22 q12.2 14241991 14242908 - 28772432 28773347 - 30442265 30443182 - 646467 ABBA01055289;AC003071;AMYH01012705;NG_022869 pseudo 39526 INFERRED 5013929 CNN2P10 calponin 2 pseudogene 10 1 1 1 q24.1 139870652 139871561 + 165032127 165033165 + 166765503 166766412 + 646693 ABBA01047258;AL008639;AMYH01001479;NG_022816 1696534 SHGC-78131 pseudo 39535 INFERRED 1343893 CNIH3 cornichon homolog 3 (Drosophila) 1 1 1 q42.12 197994781 198118853 + 222870802 222994872 + 224804179 224928249 + 1580863;6480464 16710414;15489334;14702039;12477932;9110174;8619474;17207965;20379614;23103966 149111 Q8TBE1 ABBA01009683;ABBA01009684;AC096537;AF070524;AK096312;AL596330;AMYH01001769;BC022780;CH471098;NM_152495 AAH22780;ADQ31813;BAC04760;EAW69732;NP_689708;Q8TBE1 Hs.731723 1658842;1710388;1712775;1715041;1726705;2130114;2157361;2157574;2157733;5128096 A004U18;AL009588;AL010031;B361YB5;G62739;RH119474;RH120100;SHGC-155979;SHGC-76414;SHGC-82466 CNIH-3;FLJ38993 OTTHUMP00000035751;protein cornichon homolog 3 protein-coding ENSG00000143786 26802 08799 PROVISIONAL 1606011 CNIH4 cornichon homolog 4 (Drosophila) 1 1 1 q42.11 197735537 197754630 + 222611218 222630318 + 224544595 224563691 + 6480464 17353931;11256614;16381901;15489336;15489334;12477932;11230166;11076863;11042152;8125298;21042317;16196087;21139048;16344560 29097 A6NJ96;A6NLH6;Q9P003 ABBA01009696;ABBA01009697;ABBA01009698;AC099790;AF161512;AK024569;AK222634;AK289973;AK312064;AL136930;AMYH01001767;BC000573;BC039037;BI752106;BQ051754;BQ575976;BX649076;CH471098;CS072304;DA185135;HY018269;HY145928;JA738801;NM_001277197;NM_001277198;NM_001277199;NM_001277200;NM_014184;NR_102347 AAF29127;AAH00573;ABM82827;ABM86013;BAD96354;BAF82662;BAG35000;CAB66864;CAI93442;CAL37844;CAL38029;CAL38379;CCF77053;EAW69717;EAW69718;EAW69719;NP_001264126;NP_001264127;NP_001264128;NP_001264129;NP_054903;Q9P003 Hs.445890 1668238;1769219;2145655;2174186;2179079;5037552 D8S2279;RH69714;SHGC-36449;SHGC-76415;SHGC-76420;STS-N98780 HSPC163 OTTHUMP00000035752;OTTHUMP00000035753;OTTHUMP00000035755;protein cornichon homolog 4 protein-coding 25013 13709 VALIDATED 5130643 CNN2P12 calponin 2 pseudogene 12 13 13 q11 18197878 18200053 + 19300854 19301582 + 100131550 ABBA01068529;AL391382;AMYH01004930;NG_021966 1748423 G64223 pseudo 39834 INFERRED 5013932 CNN2P2 calponin 2 pseudogene 2 9 9 p12 42481251 42482276 - 42491165 42492067 - 642888 ABBA01033788;AL591471;NG_021614 pseudo 39527 INFERRED 5013934 CNN2P3 calponin 2 pseudogene 3 9 9 q21.11 68788402 68791040 - 69498585 69499487 - 392343 AL773524;AMYH01021248;NG_021622 pseudo 39528 INFERRED 5490908 CNN2P11 calponin 2 pseudogene 11 2 95391419 95391680 - 100689296 ABBA01003588;AC073464;AL845331;AMYH01010682;NG_029997 pseudo 39536 INFERRED 5013926 CNN2P4 calponin 2 pseudogene 4 9 9 9 p11.2 40693115 40694015 + 43937611 43938729 + 43997830 43998730 + 647507 AMYH01020292;CR788268;CR848007;NG_021653 pseudo 39529 INFERRED 5013921 CNN2P5 calponin 2 pseudogene 5 9 9 9 q13 40693115 40694015 + 66083530 66085988 + 66345261 66346165 + 100133295 AL591441;AMYH01021055;NG_021657 pseudo 39530 INFERRED 5013933 CNN2P6 calponin 2 pseudogene 6 3 3 3 p23 31160133 31161028 - 31197976 31210366 - 31223246 31224141 - 339897 ABBA01024959;AC098647;AC115283;AMYH01013055;NG_022198 pseudo 39531 INFERRED 5013935 CNN2P7 calponin 2 pseudogene 7 21 21 21 q11.2 415292 416219 - 14119926 14121819 + 15199018 15199945 + 391266 ABBA01057063;AL109748;AMYH01012135;NG_021996 pseudo 39532 INFERRED 1323565 CNKSR1 connector enhancer of kinase suppressor of Ras 1 This gene is a necessary element in receptor tyrosine kinase pathways, possibly as a tyrosine phosphorylation target. It is involved in regulation of RAF in the MAPK pathway and may also play a role in a MAPK-independent pathway. [provided by RefSeq, Jul 2008] 1 1 p36.11 26376590 26388962 + 26503981 26516375 + 1580863;6480464;6484113 14749388;9814705;15075335;16964243;16344560;16289034;15845549;15753034;15489334;14702039;12477932;10557308;8125298;16189514;14724641;20383191;15231748;15670823;16825666;19718030;9427625;20634316;20197385;21320536 10256 B4DXN4;E9PIE0;E9PS82;G3V160;H0YDP5;Q53GM7;Q969H4 AB209335;ABBA01034899;AF100153;AK001900;AK222817;AK222904;AK292646;AK296814;AK302056;AL355877;AL391650;AMYH01000396;BC011604;BC012797;BT006900;CH471059;DA445069;DA868484;DR159101;NM_006314;NR_023345 AAC80558;AAH11604;AAH12797;AAP35546;ABM83167;ABM86367;BAD92572;BAD96537;BAD96624;BAF85335;BAG59387;BAG63446;EAX07840;EAX07841;EAX07842;NP_006305;Q969H4 Hs.16232 1672198;1732890;2107941;2163704;5019647 A006D29;CNKSR1_9077;D1S1309;G32327;STS-R48282 CNK;CNK1;KSR CNK homolog protein 1;OTTHUMP00000008767;OTTHUMP00000035105;OTTHUMP00000229205;connector enhancer of KSR 1;connector enhancer of KSR-like;connector enhancer of kinase suppressor of ras 1;hCNK1 APPROVED protein-coding ENSG00000142675 19700 603272 REVIEWED 4107117 CNN3P1 calponin 3, acidic pseudogene 1 6 6 6 p25.1 7764696 7765627 + 6479929 6480863 + 6534930 6535861 + 643875 ABBA01022019;AL137181;AMYH01016058;NG_022343 pseudo 38666 INFERRED 5013930 CNN2P9 calponin 2 pseudogene 9 6 6 6 q21 111926050 111926955 + 111286135 111302596 + 111179442 111180347 + 441166 ABBA01026104;AL365206;AMYH01016591;CH471051;NG_022902;Z84480 EAW48310 1702412 GDB:192496 pseudo 39534 INFERRED 5013937 CNN2P8 calponin 2 pseudogene 8 2 2 2 q11.1 89753483 89754384 + 94766614 94767690 + 95403083 95403984 + 205272 ABBA01003588;AC073464;AL845331;AMYH01010682;NG_021570 pseudo 39533 INFERRED 1350323 CNKSR2 connector enhancer of kinase suppressor of Ras 2 This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X p22.12 21302901 21580700 + 21392536 21672813 + 1580863;6480464 17353931;18029348;18287031;15772651;15489334;14702039;14597674;12477932;10048485;12390249;10207009;15028221;15342556;16344560;16637659;18790760;19260141;19563921;19615732;7757816;8889548;17043677 22866 B3KPN2;Q8WXI1 AB020709;ABBA01071955;ABBA01071956;ABBA01071957;ABBA01071958;ABBA01071959;ABBA01071960;ABBA01071961;ABBA01071962;ABBA01071963;ABBA01071964;ABBA01071965;ABBA01071966;ABBA01071967;ABBA01071968;ABBA01071969;ABBA01071970;ABBA01071971;ABBA01071972;ABBA01071973;ABBA01071974;ABBA01071975;ABBA01071976;ABBA01071977;ABBA01071978;ABBA01071979;ABBA01071980;ABBA01071981;ABBA01071982;ABBA01071983;ABBA01071984;ABBA01071985;AF418269;AF418270;AI817268;AK056549;AK124258;AK294728;AL772392;AL807781;AL928874;AMYH01022139;BC092447;BC126121;BC136289;BC143839;BM692904;BP200041;CH471074;DA067208;DA123093;F09543;NG_016266;NM_001168647;NM_001168648;NM_001168649;NM_014927;T65396;Z40257 AAI26122;AAI36290;AAI43840;AAL60502;AAL60503;BAA74925;BAG51744;BAG57875;EAW98976;EAW98977;EAW98978;NP_001162118;NP_001162119;NP_001162120;NP_055742;Q8WXI2 Hs.555917 1687289;1723685;1788928;1791195;1791203;1791207;2128414;2159585;2218398;5106104 20C20_SP6;264P13_T7;360G13_SP6;CNK2;CNKSR2_4601;RH123085;RH15676;RH45991;RH46327;UniSTS:224320 CNK2;KIAA0902;KSR2;MAGUIN CNK homolog protein 2;OTTHUMP00000023041;OTTHUMP00000023042;connector enhancer of KSR 2;connector enhancer of KSR2;connector enhancer of kinase suppressor of ras 2;membrane-associated guanylate kinase-interacting protein APPROVED protein-coding ENSG00000149970 19701 06473 300724 REVIEWED 731921 CNN1 calponin 1, basic, smooth muscle 19 19 p13.2-p13.1 11510579 11522138 + 11649579 11661138 + 1580863;6480464 14550641;17707120;17556051;17550897;15489334;15206927;12606518;12480535;12477932;12033495;11920541;9645345;9332369;9312127;9049805;9001224;8864837;8526917;8125298;2455687;2161834;19913121;20628086;19391217;8616889;17207965;20530411;21326813;21051832;21817093;20584679;10220577;21139048;23382691 1264 B4DUX6;B7Z7E1;K7ENC5;K7EQ72;K7ER02;K7ERK4;K7ERM8;K7ESJ2;P51911 ABBA01029840;AC008481;AK223234;AK300837;AK301888;AK313255;AK316406;AMYH01009487;BC022015;BC036307;CH471106;D17408;D85611;D86058;NM_001299;S80560;U37019 AAB35751;AAC51780;AAH22015;AAH36307;ADQ32707;BAA04231;BAA12983;BAA19538;BAD96954;BAG36065;BAG62488;BAH13577;BAH14777;EAW84228;EAW84229;NP_001290;P51911 Hs.465929 1671552;1852492;2108731;5021946;5492015 CNN1_8267;Cnn1;RH78572;STS-N93364;ksks67 SMCC;Sm-Calp basic calponin;calponin H1, smooth muscle;calponin-1;calponins, basic protein-coding ENSG00000130176 2155 02884 600806 VALIDATED 1350375 CNN2 calponin 2 The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 958638 969897 + 977298 990064 + 1026298 1039064 + 1580863;6480464 8889829;14702039;12665801;12388067;10830953;9049805;9001224;8889548;8125298;16236705;22863883;22939629;12477932;21139048;21890473;21906983;19322201;19738201;21963094;23000965;23398456;23463506;22505724 1265 B4DDF4;B4DUT8;H3BQH0;H3BQR6;H3BTZ5;H3BVI6;K7ES69;Q99439 ABBA01002617;ABBA01002618;AC004528;AC011558;AK024835;AK057960;AK093630;AK126391;AK222924;AK293171;AK295271;AK297774;AK300788;AMYH01009219;AMYH01009220;AMYH01009221;AMYH01009222;AY927514;BC141818;BC141833;BC148264;BM976651;BQ876824;BQ919304;BU844400;CH471139;CR541810;CR541831;D83735;D86059;NM_004368;NM_201277 AAI41819;AAI41834;AAI48265;BAA12090;BAA20887;BAD96644;BAG54322;BAG56715;BAG58257;BAG60119;BAG62450;CAG46609;CAG46630;EAW69565;EAW69566;EAW69567;EAW69568;EAW69569;EAW69570;NP_004359;NP_958434;Q99439 Hs.651512 1771802;1791121;2107945;5015619;5015881;5016478;5022578;5022651;5037552;5109281 CNN2_8268;D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;GDB:335751;GDB:434012;REU1927;RH70510 calponin H2, smooth muscle;calponin-2;neutral calponin APPROVED protein-coding ENSG00000064666 2156 03847 602373 REVIEWED 1318672 CNNM1 cyclin M1 10 10 10 q24.2 94825687 94890914 + 101078846 101144077 + 101088856 101154087 + 6480464 16344560;14723793;14702039;12657465;12477932;16385451;20379614;22412388 26507 F5H5J0;H7BY74;J3KQQ6;Q9NRU3 ABBA01063250;AF169226;AK056194;AK296545;AK299346;AK308326;AK308618;AK310486;AL137536;AL391684;AMYH01002989;BC098103;BC098134;BC098279;BC098307;BI868774;CH471066;DA326933;DA758649;DB067736;JF267782;NM_020348 AAF86357;AAH98103;AAH98134;AAH98279;AAH98307;ADZ54348;BAG51644;BAG59169;BAH13009;CAB70798;EAW49870;EAW49871;NP_065081;Q9NRU3 Hs.274579 1646888;1743297;2167619;5022578 D1S1423;GDB:314697;STS-H20551;WI-21848 ACDP1;CLP-1;FLJ31632 OTTHUMP00000020253;ancient conserved domain protein 1;ancient conserved domain-containing protein 1;cyclin-M1;metal transporter CNNM1 protein-coding ENSG00000119946 102 07417 607802 VALIDATED 1317777 CNNM2 cyclin M2 This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 10 10 10 q24.32 98418329 98578461 + 104668104 104828231 + 104678075 104838344 + 6480464 14702039;12657465;12477932;22688191;21397062;20364137;16385451;19430483;19915575;20379614;20479155;22399287;21378988;21378990;21572416;23027747;20519162;21875946;23000965;23894747;21139048;21890473;21926974;23453885 54805 Q9H8M5 ABBA01063121;ABBA01063122;ABBA01063123;ABBA01063124;ABBA01063125;ABBA01063126;ABBA01063127;ABBA01063128;ABBA01063129;ABBA01063130;AF216962;AK000071;AK023066;AK023479;AK090785;AL139817;AL356608;AMYH01003022;BC021222;BU621540;BX113753;CH471066;NG_031932;NM_017649;NM_199076;NM_199077 AAF86374;AAH21222;BAA90926;BAB14386;BAB14585;EAW49659;EAW49660;EAW49661;EAW49662;EAW49663;EAW49664;NP_060119;NP_951058;NP_951059;Q9H8M5 Hs.643509 1335599;1652774;1660992;1731070;1731076;1731106;1857730;2109173;5014063;5015881 A006S48;CNNM2_9820;D10S1738;D10S284;D10S287;D10S304;D15S1390;FB7B11;GDB:335751;RH77757 ACDP2 OTTHUMP00000020387;OTTHUMP00000020388;OTTHUMP00000020389;ancient conserved domain protein 2;ancient conserved domain-containing protein 2;cyclin-M2;metal transporter CNNM2 APPROVED protein-coding ENSG00000148842 103 07418 607803;613882 REVIEWED 6481313 CNOT10-AS1 CNOT10 antisense RNA 1 100874109 AC138972 APPROVED miscrna 41031 1317403 CNNM3 cyclin M3 2 2 2 p12-p11.2 91921772 91941256 + 96845718 96864848 + 97481991 97501121 + 6480464 17353931;16189514;14702039;12657465;12477932;20932654;19060904;21875946;21139048;21890473;21906983;21903422;21987572;19322201;21963094;21988832;22053931;23000965 26505 Q68CV4;Q8NE01 ABBA01036575;AC092636;AF216965;AK000025;AK126847;AK128698;AMYH01010726;BC007199;BC018604;BC022944;BC037272;BE465992;BE676454;CH471207;CR749702;NM_017623;NM_199078 AAF86377;AAH07199;AAH22944;AAH37272;AAY14964;BAA90891;BAG54379;CAH18480;EAW71334;EAW71335;EAW71336;EAW71337;NP_060093;NP_951060;Q8NE01 Hs.711617 1678995;1734750;2110325;2149356;5022588 CNNM3_9489;D2S1539E;D5S1597E;RH70717;RH92358 ACDP3;DKFZp434I1016;FLJ20018 OTTHUMP00000161090;OTTHUMP00000161091;ancient conserved domain protein 3;ancient conserved domain-containing protein 3;cyclin-M3;metal transporter CNNM3 protein-coding 104 07419 607804 VALIDATED 1313679 CNNM4 cyclin M4 This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010] 2 2 q11 96790366 96841355 + 97426639 97477628 + 6480464;7240710 21145461;19200527;19200525;14702039;12657465;12477932;12461695;10997877;17353931;15173235;15840172;18711365;3236352;21393841;21139048;21728811;21926972 26504 B7Z1U0;Q6P4Q7 AB046812;ABBA01036576;ABBA01036577;ABBA01036578;ABBA01036579;ABBA01036580;ABBA01036581;ABBA01036582;AC092636;AF202777;AK022833;AK095065;AK293915;AL833905;AMYH01010726;BC063295;CH471207;NG_016608;NM_020184 AAF86370;AAH63295;AAY14963;BAB13418;BAB14266;BAH11626;CAD38761;EAW71340;NP_064569;Q6P4Q7 Hs.175043 1338287;1688746;2122734;2176403;2190469 AA859983;D2S2187;RH65684;RH92382;WI-20948 ACDP4;FLJ37746;FLJ42791;KIAA1592 OTTHUMP00000161092;ancient conserved domain protein 4;ancient conserved domain-containing protein 4;cyclin-M4;metal transporter CNNM4 APPROVED protein-coding ENSG00000158158 105 07420 217080;607805 REVIEWED 731963 CNN3 calponin 3, acidic This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008] 1 1 1 p22-p21 93616973 93647200 - 95135095 95165289 - 95362507 95392735 - 1580863;6480464 18927281;17825283;17081983;16710414;15489334;15206927;15146197;12477932;12033495;11591653;10457177;8889548;8526917;20379614;20861310;17620012;21139048;21890473;21906983;22119193;21103663;23000965;23362303;23398456 1266 B4DFK6;E9PDU6;F8WA86;Q15417 ABBA01045502;ABBA01045503;AC093429;AC105942;AK294141;AK298145;AK312370;AK316398;AL359554;AMYH01000810;BC025372;BM669529;BU149686;BU608403;CA944820;CH471097;CN418286;CR541848;DC422152;DR157009;NM_001839;S80562 AAB35752;AAH25372;ABM83939;ABM87257;BAG35288;BAG57467;BAG60421;BAH14769;CAC36092;CAC36093;CAG46646;EAW73029;NP_001830;Q15417 Hs.483454 1770554;1849248;2171709 SHGC-75183;SHGC-75189;SHGC-75190 OTTHUMP00000012470;OTTHUMP00000012471;calponin, acidic isoform;calponin-3;dJ639P13.2.2 (acidic calponin 3) APPROVED protein-coding ENSG00000117519 2157 03848 602374 VALIDATED 6480981 CNOT4P1 CCR4-NOT transcription complex, subunit 4 pseudogene 1 13 21495803 21497372 - 100874389 ABBA01068594;AL356285;AMYH01004951;NG_032240 pseudo 39272 INFERRED 1351119 CNOT5 CCR4-NOT transcription complex, subunit 5 10880468 60403 14100 1602129 CNOT1 CCR4-NOT transcription complex, subunit 1 16 16 16 q21 43052843 43163048 - 57111356 57221251 - 58553850 58663790 - 6480464 16712791;17353931;16778766;14702039;12477932;11972353;11733989;10637334;18377426;11823428;10231032;8889548;17643375;19305408;19305409;19558367;19615732;20062063;22939629;22977175;22863883;23022380;20360068;21976065;16196087;22118674;21139048;21890473;21906983;22367759;22586326;22726844;19380743 23019 B5MDN3;H3BMH0;H3BMZ2;H3BNB1;H3BPF1;H3BR89;H3BT18;H3BTH2;H3BU44;H3BUY8;H3BVC9;Q9Y2L0 AB023224;ABBA01025307;ABBA01025308;ABBA01025309;ABBA01025310;AC009118;AC010287;AF110778;AJ346264;AK056927;AK075125;AK092885;AK300281;AK301092;AK302495;AL117492;AL832769;AL833549;AMYH01007713;AMYH01007714;AMYH01007715;AMYH01007716;BC000779;BC011861;BC024317;BC027969;BC040523;BM023419;BM968443;BX537840;BX647815;CB162525;CR749237;DB456343;EF553522;NM_001265612;NM_016284;NM_206999;NR_049763 A5YKK6;AAF14861;AAH00779;AAH24317;AAH40523;ABQ66268;BAA76851;BAG51828;BAG52622;BAG62040;BAG63779;BAH13408;CAB55960;CAD97851;CAH18093;NP_001252541;NP_057368;NP_996882 Hs.460923;Hs.731691 1655264;1660299;1684128;1718885;1847081;1848952;1850276;2115407;2120462;2147595;2151479;2184689;2191265 A002K05;A004F31;D16S2562E;D16S2941;D16S3186;MARC_16903-16904:1022861972:1;RH123148;RH35951;RH41889;RH69078;RH70432;RH98939;SHGC-61172 AD-005;CDC39;DKFZp686E0722;DKFZp686O168;FLJ36492;FLJ90644;KIAA1007;NOT1;NOT1H CCR4-NOT transcription complex subunit 1;CCR4-associated factor 1;NOT1 (negative regulator of transcription 1, yeast) homolog;OTTHUMP00000164723;adrenal gland protein AD-005;hNOT1;negative regulator of transcription subunit 1 homolog protein-coding ENSG00000125107 7877 11999 604917 VALIDATED 1319296 CNOT6L CCR4-NOT transcription complex, subunit 6-like 4 4 4 q13.3 75935929 76042004 - 78853565 78959568 - 78634541 78740544 - 6480464 17353931;17452450;18377426;16344560;14702039;21233283;20628353;20379614;20211142;20818722;20360068;19558367 246175 D6RGK9;D6RIW9;H0Y9C1;H0Y9Z5;H0YA76;Q96LI5 ABBA01063374;ABBA01063375;AC104701;AK027214;AK058188;AK124855;AK303417;AK304397;AL133112;AMYH01014321;AMYH01014322;CH471057;DA043791;DB454180;NM_144571 AAI52817;BAB71707;BAG64470;BAG65232;CAB61415;EAX05818;EAX05819;NP_653172;Q96LI5 Hs.592519 1661369;1686891;1749565;1783936;1850203;1853428;2110327;2110925;2120561;2166596;2179459;2189543;5022022 A006V35;CNOT6L;CNOT6L_8159;D4S623E;D4S895;G33447;G34328;SHGC-111263;SHGC-111937;SHGC-24218;SHGC-36234;SHGC4-1546;UniSTS:235228 CCR4b CCR4-NOT transcription complex subunit 6-like;OTTHUMP00000219081;OTTHUMP00000219082;OTTHUMP00000219083;carbon catabolite repressor protein 4 homolog B protein-coding ENSG00000138767 18042 10841 VALIDATED 2303314 CNOT6LP1 CCR4-NOT transcription complex, subunit 6-like pseudogene 1 15 15 15 q21.3 33184020 33188155 - 54082791 54086783 - 56295503 56299377 - 729530 ABBA01039012;AC039057;AMYH01006674;NG_009481 1761067;2185861;2189543;5022022 CNOT6L;SHGC-145013;SHGC-5880;UniSTS:235228 pseudo 32355 INFERRED 1343563 CNOT10 CCR4-NOT transcription complex, subunit 10 3 3 3 p22.3 32665983 32752706 + 32701702 32790358 + 32726637 32815367 + 1580863;6480464 17353931;17452450;18377426;16730941;14702039;12477932;1348029;19615732;20360068;16344560;8889548;21139048;21890473;21906983;19558367;21963094;23275444;23383273;22505724 25904 B7Z5B3;E9PCN5;H7BZZ7;H7C0K1;H7C1X9;Q9UFJ2 ABBA01024924;ABBA01024925;ABBA01024926;ABBA01024927;ABBA01024928;AC138972;AC139452;AK021695;AK022576;AK022952;AK023227;AK027026;AK297085;AK298693;AK302196;AK309670;AL117639;AMYH01013063;AMYH01013064;BC002928;BC002931;BC006382;BM979742;CH471055;DB107280;DC394847;NM_001256741;NM_001256742;NM_015442;NR_046352;Z14236 AAH02928;AAH02931;ABM83821;ABM87142;ACE86500;ACE87181;BAB13876;BAB14108;BAB14327;BAB14478;BAB15629;BAH12492;BAH12849;BAH13647;CAA78605;CAB56027;EAW64434;EAW64435;EAW64436;NP_001243670;NP_001243671;NP_056257;Q9H9A5 Hs.444851 2151566;2173453 SHGC-37518;STS-N62475 DKFZp434K115;FLJ12890;FLJ13165 CCR4-NOT transcription complex subunit 10;OTTHUMP00000161313;OTTHUMP00000208868;OTTHUMP00000208869 protein-coding ENSG00000182973 23817 16731 VALIDATED 6777190 CNOT7P1 CCR4-NOT transcription complex, subunit 7 pseudogene 1 X 69157013 69157867 - 100421338 ABBA01067516;AL450449;AMYH01022521;NG_026715 pseudo 44248 INFERRED 6777903 CNOT7P2 CCR4-NOT transcription complex, subunit 7 pseudogene 2 1 p13.1 116107222 116108050 + 100132332 ABBA01068474;AL592436;AMYH01000969;NG_030209 pseudo 44249 INFERRED 1348103 CNOT11 CCR4-NOT transcription complex, subunit 11 2 2 2 q11.2 96073332 96090764 + 101235810 101253208 + 101869345 101886778 + 6480464 10497265;15815621;15489334;14702039;12477932;19322201;23232451;23303381;20360068;21139048;21890473;21906983;19558367;21963094;22505724 55571 H7C0C7;Q9UKZ1 ABBA01073912;AC013722;AF103798;AK024221;AMYH01010814;BC018664;BC064421;BM923954;BX394182;CH471127;NM_017546 AAF02418;AAH18664;AAH64421;AAY15088;BAG51272;EAX01821;NP_060016;Q9UKZ1 Hs.744080 1646724;2168252 RH16649;RH66468 C2orf29;C40 CCR4-NOT transcription complex subunit 11;OTTHUMP00000161273;UPF0760 protein C2orf29;hypothetical protein LOC55571 APPROVED protein-coding ENSG00000158435 25217 12812 VALIDATED 1323253 CNOT2 CCR4-NOT transcription complex, subunit 2 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 12 12 12 q15 70300448 70412447 + 68923044 69035040 + 70636774 70748773 + 1580863;6480464 10637334;17452450;18377426;16712523;16344560;16189514;16039607;15489334;14707134;14702039;12477932;11042152;12882519;19558367;20211142;16778766;20379614;21299754;22367759;20360068;21906983;21963094;22959728;23383273 4848 B2RDX7;B3KTL6;F8VP97;F8VPX5;F8VQD8;F8VQF4;F8VRJ3;F8VRS2;F8VRS8;F8VS14;F8VSK9;F8VUB4;F8VV05;F8VV52;F8VVD4;F8VVY1;F8VWH8;F8VX63;F8W145;H0YH84;H0YHT6;H0YHT8;H0YI11;H0YI80;Q9NZN8 AA234384;ABBA01026524;ABBA01026525;AC025569;AC092881;AF044215;AF113226;AF161480;AF180473;AK000662;AK095789;AK129966;AK307479;AK315715;AL137674;AMYH01004576;AY395696;BC002597;BC011826;BX641116;CH471054;DA445519;DB038192;NM_001199302;NM_001199303;NM_014515;NR_037615 AAF29095;AAF29827;AAG39297;AAH02597;AAH11826;AAQ13426;AAR32245;ABZ92477;BAA91313;BAC85263;BAG38074;BAG53128;CAB70869;CAE46054;EAW97245;EAW97246;EAW97247;EAW97248;EAW97249;NP_001186231;NP_001186232;NP_055330;Q9NZN8 Hs.133350;Hs.730666 1645799;1673834;1733542;1739701;2134688;2182393 A004I43;D12S1492;D12S1861;D12S882;RH68354;STS-T90463 CDC36;FLJ26456;HSPC131;NOT2;NOT2H CCR4-NOT transcription complex subunit 2;CCR4-associated factor 2;NOT2 (negative regulator of transcription 2, yeast) homolog;OTTHUMP00000241224;OTTHUMP00000241234;OTTHUMP00000241236;negative regulator of transcription 2 APPROVED protein-coding ENSG00000111596 7878 05367 604909 REVIEWED 1347023 CNOT6 CCR4-NOT transcription complex, subunit 6 The protein encoded by this gene is a subunit of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substates. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175544212 175628139 + 179854023 179937959 + 179921417 180005353 + 6480464 17452450;18818012;18180299;16341674;15314026;14702039;12771185;12477932;11889047;11747467;10637334;10574462;8586417;17785442;21233283;19558367;19716330;19875381;19322201;20360068;21139048;21906983;22505724 57472 D6R9H6;Q9ULM6 AB033020;ABBA01010070;AC034213;AC122714;AJ426335;AK023599;AK314752;AL110144;AMYH01015968;AMYH01015969;BC015331;BC027476;BC073142;BC090918;BC114958;BC152469;BF940524;BM769589;BQ232180;CH471165;D20789;NM_015455 AAH27476;AAI52470;AAI60174;BAA86508;BAG37291;CAD32417;EAW53752;EAW53753;EAW53754;NP_056270;Q9ULM6 Hs.608380 1337571;1651193;1668689;1697252;1705176;1759951;1780804;7185327 D5S408;RH100;RH102120;SHGC-32852;SHGC-80037;WI-22407;bac52134T CCR4;KIAA1194 CCR4 carbon catabolite repression 4-like;CCR4-NOT transcription complex subunit 6;OTTHUMP00000161544;carbon catabolite repression 4 protein;carbon catabolite repressor protein 4 homolog;cytoplasmic deadenylase APPROVED protein-coding ENSG00000113300 14099 12341 608951 REVIEWED 1312407 CNOT3 CCR4-NOT transcription complex, subunit 3 19 19 19 q13.4 51682719 51700732 + 59333261 59351239 + 54641436 54659446 + 1580863;6480464 23263491;12207886;16189514;15752756;15489334;15302935;12477932;10941842;10637334;9734811;16341674;16344560;16778766;17452450;18029348;18377426;20970119;22939629;16159877;18255255;22367759;20360068;21139048;21890473;22294640;22342980;22053931;19558367 4849 H0Y5X7;H7C148;H7C3F5;H7C5J4;O75175 AB014591;ABBA01068172;ABBA01068173;AC012314;AF180474;AF211967;AI660119;AK160386;AK300434;AL133647;AMYH01009976;BC016474;BM781759;BP390470;BQ439042;BU859614;CH471135;CU151838;CU457734;DB076207;NM_014516 AAF29828;AAH16474;BAA31666;BAD18729;BAH13283;CAB63766;EAW72192;EAW72193;EAW72194;NP_055331;O75175 Hs.343571 1789272;1798908;1800046;1800694;1800794;1806006;1806336;1807960;1808098;1808244;1808656;1809312;1809628;1810116;1810414;1810482;1810992;1819320;1824640;1824798;1826884;1835942;1837814;1837874;1842510;2041258;2041260;2041262;2041264;2041266;2041268;2041270;2041272;2041274;2041276;2041278;2041280;2041282;2041284;2041286;2041288;2041290;2041292;2041294;2041296;2041298;2041300;2041302;2041304;2041306;2041308;2041310;2041312;2041314;2041316;2041318;2041320;2041322;2041324;2041326;2041328;2041330;2041332;2041334;2041336;2041338;2041340;2041342;2041344;2041346;2041348;2041350;2041352;2041354;2041356;2041358;2041360;2041362;2041364;2041366;2041368;2041370;2041372;2041374;2041376;2041378;2041380;2041382;2041384;2041386;2041388;2041390;2041392;2041394;2041396;2041398;2041400;2041402;2041404;2041406;2041408;2041410;2041412;2041414;2041416;2041418;2041420;2041422;2041424;2041426;2041428;2041430;2041432;2041434;2041436;2103612;2103614;2103616;2103618;2103620;2103622;2103624;2103626;2103628;2106999 CNOT3_7840;ECD00295;ECD00878;ECD01208;ECD01259;ECD03956;ECD04123;ECD04958;ECD05030;ECD05103;ECD05310;ECD05646;ECD05806;ECD06050;ECD06200;ECD06234;ECD06494;ECD10727;ECD13418;ECD13498;ECD14557;ECD19132;ECD20077;ECD20107;ECD22462;G67807;REN91664;REN91665;REN91666;REN91667;REN91668;REN91669;REN91670;REN91671;REN91672;REN91673;REN91674;REN91675;REN91676;REN91677;REN91678;REN91679;REN91680;REN91681;REN91682;REN91683;REN91684;REN91685;REN91686;REN91687;REN91688;REN91689;REN91690;REN91691;REN91692;REN91693;REN91694;REN91695;REN91696;REN91697;REN91698;REN91699;REN91700;REN91701;REN91702;REN91703;REN91704;REN91705;REN91706;REN91707;REN91708;REN91709;REN91710;REN91711;REN91712;REN91713;REN91714;REN91715;REN91716;REN91717;REN91718;REN91719;REN91720;REN91721;REN91722;REN91723;REN91724;REN91725;REN91726;REN91727;REN91728;REN91729;REN91730;REN91731;REN91732;REN91733;REN91734;REN91735;REN91736;REN91737;REN91738;REN91739;REN91740;REN91741;REN91742;REN91743;REN91744;REN91745;REN91746;REN91747;REN91748;REN91749;REN91750;REN91751;REN91752;REN91753;stSG605816;stSG605818;stSG605824;stSG605825;stSG605826;stSG605827;stSG605829;stSG605830;stSG605831 KIAA0691;LENG2;NOT3;NOT3H CCR4-NOT transcription complex subunit 3;CCR4-associated factor 3;NOT3 (negative regulator of transcription 3, yeast) homolog;OTTHUMP00000069287;OTTHUMP00000197713;leukocyte receptor cluster member 2 protein-coding ENSG00000088038 7879 05368 604910 VALIDATED 1321153 CNOT4 CCR4-NOT transcription complex, subunit 4 The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] 7 7 7 q22-qter 129783984 129932315 - 134697089 134845391 - 135046547 135194875 - 6480464 15489334;15001359;14702039;12477932;11823428;11087754;10637334;19690564;12107410;16344560;18029348;19346402;19558367;20379614;22159038;21139048;15062086;19322201 4850 Q9NPQ1 AACC02000025;ABBA01001118;ABBA01001119;AC009331;AC083871;AF091094;AF180475;AK074493;AK074671;AK300365;AK314540;AL389980;AL519669;AMYH01017955;AMYH01017956;AMYH01017957;BC035590;CA396599;CH236950;CH471070;DA247976;NM_001008225;NM_001190847;NM_001190848;NM_001190849;NM_001190850;NM_013316;U71267;U71268 AAC72963;AAD00179;AAD00180;AAF29829;AAH35590;BAC11125;BAG51961;BAH13270;CAB97536;EAW83849;EAW83850;EAW83851;EAW83852;EAW83853;EAW83854;NP_001008226;NP_001177776;NP_001177777;NP_001177778;NP_001177779;NP_037448;O95628 Hs.490224 1339579;1651251;1663958;1698364;1727947;1777946;1846608;2169935;2191047;2217170;5037552;5115854;7184017;7185459 CNOT4_3404;D7S500;D8S2279;G36443;G63393;GDB:1317696;MARC_13799-13800:1006870121:1;RH102723;RH69333;SHGC-36328;SHGC-36724;ksks430 CLONE243;NOT4;NOT4H CCR4-NOT transcription complex subunit 4;CCR4-associated factor 4;E3 ubiquitin-protein ligase CNOT4;NOT4 (negative regulator of transcription 4, yeast) homolog;OTTHUMP00000208245;OTTHUMP00000208246;OTTHUMP00000208247;OTTHUMP00000208248;OTTHUMP00000208540;potential transcriptional repressor NOT4Hp APPROVED protein-coding ENSG00000080802 7880 05369 604911 REVIEWED 1603862 CNPY1 canopy FGF signaling regulator 1 Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008] 7 7 7 q36.3 149717533 149750115 - 154986714 155019300 - 155293953 155326539 - 16488878;14702039;12690205;12477932 285888 Q3B7I2 AACC02000068;ABBA01032394;AC008060;AC009403;AK094445;AMYH01018182;BC105732;BC105733;BC105734;BC107598;CH236954;NM_001103176 AAI05733;AAI05734;AAI05735;AAI07599;EAL23910;NP_001096646;Q3B7I2 Hs.146751 1650334;1790521;7184095 D7S3035;RH48682 MGC125606 OTTHUMP00000199893;OTTHUMP00000199894;canopy 1 homolog;protein canopy homolog 1 APPROVED protein-coding ENSG00000146910 27786 612493 VALIDATED 1319430 CNPY3 canopy FGF signaling regulator 3 PRAT4A is associated with the immature form of TLR4 (MIM 603030) and regulates its cell surface expression (Wakabayashi et al., 2006 [PubMed 16849487]).[supplied by OMIM, Mar 2008] 6 6 6 pter-p12.1 44449122 44459272 + 43004838 43014986 + 42896860 42907008 + 6480464 22447933;16849487;14702039;12975309;12754519;12477932;9225980 10695 Q9BT09 ABBA01050706;AF161347;AK090425;AK124196;AL035587;AMYH01016309;AY358960;BC004423;BC008133;BC008898;BC008961;BC011767;BC022093;CH471081;NM_006586;U80744 AAB91442;AAF28907;AAH04423;AAH08898;AAH08961;AAH22093;AAQ89319;ABZ92293;BAC03406;EAX04111;EAX04112;EAX04113;EAX04114;EAX04115;EAX04116;EAX04117;EAX04118;EAX04119;EAX04120;EAX04121;EAX04122;NP_006577;Q9BT09 Hs.414099 1338953;1688028;1730251;1739223;1745917;1788642;2155519;2163951;5014019;5016478;5020948;5109281;7185360 D12S814;D1S1425;D5S2354;D6S1374;D6S322E;G35510;G64272;GDB:434012;RH18149;RH18283;RH93325;SHGC-57523 CAG4A;ERDA5;PRAT4A;TNRC5 CAG repeat containing;CTG repeat protein 4a;OTTHUMP00000016408;canopy 3 homolog;expanded repeat domain, CAG/CTG 5;expanded repeat-domain protein CAG/CTG 5;protein associated with TLR4;protein associated with Toll-like receptor 4A;protein canopy homolog 3;trinucleotide repeat containing 5;trinucleotide repeat-containing gene 5 protein APPROVED protein-coding ENSG00000137161 11968 06745 610774 VALIDATED 1343498 CNPPD1 cyclin Pas1/PHO80 domain containing 1 2 2 2 q35 213806335 213811418 - 219744863 219749931 - 220036619 220041702 - 6480464 15489334;12477932;10810093;9110174;8619474;17207965;21987572;22505724 27013 C9J597;C9JF31;Q9BV87 ABBA01023851;AC068946;AF070638;AF151815;AK075274;AK314975;AMYH01011503;AY007160;BC001393;BC012821;BI912613;CH471063;CR457401;DB477110;NM_015680 AAC25393;AAD34052;AAG02008;AAH01393;AAH12821;ADQ32736;BAG37474;BAG52100;CAG33682;EAW70684;EAW70685;EAW70686;EAW70687;EAW70688;NP_056495;Q9BV87 Hs.4973 1699050 RH103100 C2orf24;CGI-57 OTTHUMP00000164172;OTTHUMP00000206205;OTTHUMP00000206206;OTTHUMP00000206207;cyclin Pas1/PHO80 domain-containing protein 1;hypothetical protein LOC27013;protein CNPPD1 APPROVED protein-coding ENSG00000115649 25220 10780 VALIDATED 1314995 CNOT8 CCR4-NOT transcription complex, subunit 8 5 5 q31-q33 154218391 154236545 + 154238198 154256352 + 1580863;6480464 11256614;17353931;10036195;9820826;17178784;16381901;15489336;15489334;14702039;12771185;12477932;11230166;11136725;11076863;10637334;16189514;20595389;20595394;16778766;19558367;19605561;20065043;17264152;21336257;22977175;22683897;23383273;20360068;21900206;21987572;21139048;21890473;21906983;15769875;21963094;19322201;23236473;22505724 9337 B0AZS3;B7Z8R1;B7Z9U0;E5RFJ4;E5RGE4;E5RHD6;E5RHG0;E5RHL9;E5RHP3;E5RIL2;E5RIU0;E5RJC5;E5RK92;Q9UFF9 ABBA01026219;ABBA01026220;AC112169;AF053318;AF087844;AF180476;AK025358;AK297381;AK299589;AK303775;AK309359;AK314317;AK315864;AK316055;AK316221;AK316269;AL122045;AMYH01015730;BC017366;BC093025;BT006857;BX647124;CH471062;NM_004779 AAD02685;AAF29830;AAH17366;AAP35503;AAP97157;BAB15119;BAF98755;BAG36965;BAH12567;BAH13076;BAH14047;BAH14426;BAH14592;BAH14640;CAB59181;CAL38522;EAW61625;EAW61626;EAW61627;EAW61628;NP_004770;Q9UFF9 Hs.26703 2148135;2149669;2172530;2217172 A004P22;CNOT8_3504;RH65257;SGC32815 CAF1;CALIF;Caf1b;POP2;hCAF1 CAF1-like protein;CAF2;CALIFp;CCR4-NOT transcription complex subunit 8;CCR4-associated factor 8;OTTHUMP00000160695;OTTHUMP00000225991;OTTHUMP00000225997;OTTHUMP00000226001;OTTHUMP00000226002;OTTHUMP00000226004;OTTHUMP00000226007;PGK promoter directed over production protein-coding ENSG00000155508 9207 07225 603731 PROVISIONAL 1350709 CNPY2 canopy FGF signaling regulator 2 12 12 12 q15 56357026 56362916 - 54990484 54996387 - 56704212 56710128 - 1580863;6480464 12826659;10072769;19240061;15905959;15489334;12975309;12477932;16344560;17207965;21832049;21139048;21906983;22378787 10330 F8VXJ7;F8W1K5;H0YI18;H0YIH9;Q9Y2B0 AA515271;AB015631;ABBA01008419;ABBA01008420;AC073896;AF186113;AK312921;AMYH01004504;AY032624;AY359102;BC001027;BC065015;CH471054;DA833421;FB746690;FB775566;NM_001190991;NM_014255 AAF01431;AAH01027;AAH65015;AAK38148;AAQ89460;ADQ32561;BAA76498;BAG35766;CAT04657;CAV30740;EAW96925;EAW96926;EAW96927;NP_001177920;NP_055070;Q9Y2B0 Hs.8752 1643727;1657489;1773084;1777448;2110027 RH47494;RH69835;STS-T97362;STS-W80474;USP52_9019 HP10390;MSAP;TMEM4;ZSIG9 MIR-interacting saposin-like protein;OTTHUMP00000243513;OTTHUMP00000243514;canopy 2 homolog;protein canopy homolog 2;putative secreted protein Zsig9;transmembrane protein 4 APPROVED protein-coding ENSG00000257727 13529 12056 605861 VALIDATED 1313268 CNOT7 CCR4-NOT transcription complex, subunit 7 The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The protein has both mouse and yeast orthologs. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 p22-p21.3 17131111 17148758 - 17086740 17104387 - 633241;1580863;6480464 1538749 9820826;18084094;17264152;16344560;15489334;14702039;12845644;12477932;10637334;8889549;8125298;7791755;18056425;10602502;11136725;9712883;11429045;18377426;19558367;19605561;20098747;20211142;21832049;20360068;21900206;21139048;21906983;19322201;15769875;19276069;19716330;21963094;23275444;23236473 29883 E5RGA8;E5RGH2;E5RHV9;E5RJE0;H0YAV9;H0YBT3;Q9UIV1 AA134869;AA165288;ABBA01021585;AC091050;AF086915;AK001209;AK021808;AK023466;AK225893;AL833642;AMYH01018545;AW448990;BC007315;BC060852;BC070187;BM468592;BT006685;CH471080;DA752620;L46722;NM_013354;NM_054026 AAF01500;AAH07315;AAH60852;AAH70187;AAP35331;AAP97145;BAG50869;BAG51053;BAG51197;EAW63820;EAW63821;EAW63822;EAW63823;NP_037486;NP_473367;Q9UIV1 Hs.645009;Hs.729775 1794218;1795586;2166553;5022335;5091064;5124073 CNOT7;CNOT7_1517;D8S1343E;D8S2081;PMC310830P26;RH80037 CAF1;Caf1a;hCAF-1 BTG1 binding factor 1;BTG1-binding factor 1;CAF-1;CCR4-NOT transcription complex subunit 7;CCR4-associated factor 1;OTTHUMP00000122444;OTTHUMP00000225203;OTTHUMP00000225205;carbon catabolite repressor protein (CCR4)-associative factor 1 APPROVED protein-coding ENSG00000198791 14101 604913 REVIEWED 736298 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 17 17 q21 37372285 37383280 + 40118759 40129754 + 1580863;6480464;6483340;6483336;6483347;6483334;6483345;6483357;6483335;6483337;6483351;6483338;6483346;6483343;6483344;6483331;6483339;6483333;6483353 17306456;20215974;18466224;21570342;16205370;17936728;21107918;19747899;10650887;19592007;18676363;16891421;16389193;22473874;19473295;21918687;7541143 8392017;1322358;12379507;19348671;19165527;19034380;18496213;18289148;17964117;17150526;17081065;17010574;16343930;16103231;15713463;15502338;15489334;14702039;12947117;12643545;12477932;12452325;11842207;11156964;10646504;9268698;8921398;6328143;2995854;2835044;2164018;2161933;1385234;1360194;1315529;11993850;19913121;20628086;17215244;18482256;19508346;7821789;21139048;21890473;21906983;22321011;22589395;21525035;22678362;22954668;23000965;23032943;23084924;22053931;22505724 1267 B4DFN6;C9K0L8;K7EN66;K7EQ27;K7ERC4;K7ERZ0;P09543 ABBA01006442;AC125257;AK026876;AK097833;AK098048;AK098384;AK124861;AK294179;AK295351;AMYH01008389;BC001362;BC006392;BC011046;BC028040;BC045561;CB988051;CH471152;D13146;D28445;M19650;NM_033133;S46843;S46849;S50013;S50017 AAA35704;AAB23928;AAB24298;AAH01362;AAH06392;AAH11046;AAH28040;ABM83501;ABM86717;BAA02435;BAA05811;BAA39694;BAG57497;BAG58318;EAW60785;EAW60786;EAW60787;NP_149124;P09543 Hs.273621 1661552;1672488;1699868;1729159;1730135;1778643;2127472;2138122;2218752;5120183 CNP_534.2;D17S824E;G10619;G63900;GDB:201802;RH1;RH103542;SGC35787;WI-15279;WI-15314 CNP1 2', 3' cyclic nucleotide 3' phosphohydrolase;2',3'-cyclic-nucleotide 3'-phosphodiesterase;CNPase;OTTHUMP00000164760;OTTHUMP00000164761 protein-coding 2158 00448 123830 VALIDATED 1606674 CNPY4 canopy FGF signaling regulator 4 7 7 7 q22.1 94452426 94458394 + 99555201 99561067 + 99717265 99723131 + 6480464 22447933;16338228;16303743;12975309;12690205;12477932;16169070 245812 Q8N129 AACC02000084;ABBA01013235;ABBA01013236;ABBA01013237;AC073842;AK075537;AMYH01017726;AMYH01017727;AY359100;BC019903;BC032339;CH236956;CS051459;NM_152755 AAH19903;AAH32339;AAQ89458;ABM82519;ABW03384;BAC11680;CAI72221;EAL23850;NP_689968;Q8N129 Hs.632293 1682628;2180267 RH99005;SHGC-57793 MGC40499;PRAT4B OTTHUMP00000206759;PRotein Associated with Tlr4;canopy 4 homolog;protein canopy homolog 4 APPROVED protein-coding ENSG00000166997 28631 14611 610047 VALIDATED 1602462 CNTD2 cyclin N-terminal domain containing 2 19 19 19 q13.2 37527663 37532144 - 45419962 45424404 - 40728115 40732597 - 14702039;8889548 79935 D6RCS3;M0QZM5;Q9H8S5 ABBA01040746;AC118344;AI924992;AK023327;AK301833;AMYH01009799;BM709160;BU732215;CH471126;NM_024877 BAB14529;BAG63277;EAW56939;EAW56940;NP_079153;Q9H8S5 Hs.631603 FLJ13265 OTTHUMP00000218301;OTTHUMP00000218303;cyclin N-terminal domain-containing protein 2 protein-coding ENSG00000105219 25805 08581 VALIDATED 732246 CNR2 cannabinoid receptor 2 (macrophage) The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008] 1 1 p36.11 24073047 24112404 - 24200460 24239817 - 1580863;2316193;2316196;2316224;2316223;2316199;2316197;6480464 19409856;19115380;17950273;18075852;18930143;19070664 8679694;7556170;19565271;19496827;19480992;19442614;19397896;19071106;19058789;19053233;19027245;18991891;18799087;18636169;18614816;18599552;18483286;18419603;18334483;18286196;18221003;18092149;18068305;17923791;17678969;17660390;17613768;17390085;17334644;17327359;17223358;17189959;17074588;17068343;17015679;16624285;16563625;16547349;16513651;16503355;16406364;16204352;16139274;15927811;15845647;15765409;15728830;15472222;15456404;15266552;15039279;14966196;14764676;14657172;12799277;12711605;12663043;12511587;12477932;12417328;12153574;21472688;12095632;11727770;10051546;7689702;19913121;20628086;20369362;20307616;18240029;19328464;19477951;19505450;19547718;19596672;19730968;19768813;19858202;19931854;20041802;20090845;20124950;20133454;20468064;20854251;19757078;20607655;18577758;19931541;20494466;20602678;20621164;21450051;21457344;21640764;22814029;22826533;22927922;20335147;21539938;23537664;21251115;21658778;21861534;21467997;21537344;21626285;22130134;22256945;22763024;22578958;22465144;22532560;21649637;21828121;22134924;22534181;23361273;23296125;23463725;20089805;21670103;21735070 1269 C6ES44;P34972 ABBA01059888;ABBA01059889;ABBA01059890;AJ430063;AJ430064;AL590609;AM156854;AM156855;AM156856;AMYH01000365;AMYH01000366;AMYH01000367;AY242132;BC069722;BC074767;BC095545;CH471134;CS613268;EU517121;GM007150;GM835801;HB435988;NM_001841;X74328 AAH69722;AAH74767;AAH95545;AAO92299;ACD31539;CAA52376;CAD22548;CAD22549;CAJ42137;CAJ42138;CAJ42139;CAO02243;CAS97371;CAV28600;CAZ76867;EAW95099;EAW95100;NP_001832;P34972 Hs.73037 1720949;1744177;2119920;2158356;2173980;5015959;5020948;5022200;5022450;5022578;5022651;5024510;5024761;5037552;5120437;5492645 D10S2448;D10S275;D11S2921;D13S1552;D1S1423;D8S2279;G35510;GDB:315881;GDB:435196;L18426;RH121875;RH36905;SGC31908;SHGC-74384;UniSTS:481892;WIAF-1577 CB-2;CB2;CX5 CB-2;OTTHUMP00000015772;cannabinoid receptor 2;hCB2;testis-dominant CNR2 isoform CB2 APPROVED protein-coding 2160 05444 605051 REVIEWED 1318105 CNRIP1 cannabinoid receptor interacting protein 1 This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] 2 2 2 p14 68360897 68396770 - 68373646 68400347 - 68511303 68547183 - 737633;6480464 12477932 16696853;17895407;16344560;15815621;15489334;20379614;22990118 25927 B8ZZB8;Q96F85 ABBA01075483;AC015969;AK311784;AL110235;AMYH01010416;AY144596;BC011535;BC035125;CH471053;DA523617;NM_001111101;NM_015463 AAH11535;AAN41658;AAX93120;BAG34727;CAB53688;EAW99877;NP_001104571;NP_056278;Q96F85 Hs.212885 1652621;1734948;1858518;2116160;2165701;5015861;5037552;5109281;7185938 D10S16;D1S1425;D2S1627E;D2S1705E;D8S2279;RH18495;SHGC-13116;WI-17115 C2orf32;CRIP1;DKFZp566K1924 CB1 cannabinoid receptor-interacting protein 1;CRIP-1;OTTHUMP00000159965;OTTHUMP00000201977;cannabinoid receptor CB1-interacting protein 1 APPROVED protein-coding ENSG00000119865 24546 12813 REVIEWED 1603365 CNTD1 cyclin N-terminal domain containing 1 17 17 17 q21.31 37606841 37619590 + 38204464 38216179 + 40950854 40963605 + 6480464 14702039;12477932;17207965 124817 B4DXR6;K7ELB6;K7EQE2;K7ERX8;Q8N815 ABBA01006407;AC016889;AK097456;AK302094;AL833052;AMYH01008398;BC026187;CH471152;NM_173478 AAH26187;ADQ31735;BAC05060;BAG63478;CAH56287;EAW60886;EAW60887;NP_775749;Q8N815 Hs.12272 1654805;1732253;1733798;1777423;2120322;2122816;2122818;2145305;2147379;2162511 A005R43;D17S1146;D17S1321;G20453;RH17649;RH47257;STS-U17909;STS-U18006;WI-11793;WI-17766 CNTD;FLJ40137 cyclin N-terminal domain-containing protein 1 protein-coding 26847 08271 VALIDATED 1606946 CNST consortin, connexin sorting protein Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010] 1 1 1 q44 220016987 220121650 + 244796429 244897049 + 246729639 246831884 + 6480464 11256614;16381901;16344560;16189514;15489336;14702039;12477932;11230166;11076863;19864490;19389623;22321011;21044950 163882 B1AQM9;Q6PJW8 ABBA01031764;ABBA01031765;ABBA01047148;ABBA01047149;ABBA01047150;ABBA01047151;ABBA01047152;AK056563;AK074142;AK091739;AL356583;AL591623;AL591848;AL646019;AL834246;AMYH01001902;AMYH01001903;BC010228;BC036200;BX647629;CH471148;DA461531;DA994539;NM_001139459;NM_152609 AAH10228;AAH36200;BAB71218;BAB84968;BAC03735;CAD38922;CAL37458;CAL38207;EAW77154;EAW77155;EAW77156;EAW77157;EAW77158;EAW77159;NP_001132931;NP_689822;Q6PJW8 Hs.368353 1674675;1763403;1778466;1858247;2156772;2156774;2178027 A001Y44;AL009315;G19800;RH64548;SHGC-147118;SHGC-36595;SHGC-76637 C1orf71;FLJ32001;MGC18089;PPP1R64;RP11-452J6.1 OTTHUMP00000038011;OTTHUMP00000038012;consortin;protein phosphatase 1, regulatory subunit 64 APPROVED protein-coding ENSG00000162852 26486 08718 613439 VALIDATED 1317678 CNTLN centlein, centrosomal protein 9 9 9 p22.2 17063810 17432405 + 17125038 17493917 + 17135038 17503917 + 6480464 18086554;16344560;15164053;14702039;22266860;19913121;20628086;19648919;20379614;22990118;18029348;19850743;22424883;21963094;22952603;22940680 54875 C9J1F9;J3KN33;Q9NXG0 AA492222;AA828123;ABBA01065237;ABBA01065238;ABBA01065239;ABBA01065240;ABBA01065241;ABBA01065242;ABBA01065243;ABBA01065244;ABBA01065245;ABBA01065246;ABBA01065247;AK000283;AK021596;AK098502;AK303973;AK308837;AL133214;AL162725;AL354711;AL354738;AL590377;AMYH01019258;AW136479;AW590957;BG575335;BU075047;BU162362;BX647069;CH471071;DB280003;NM_001114395;NM_017738 AAI56252;BAA91052;BAB13850;BAC05319;BAG64894;EAW58664;NP_001107867;NP_060208;Q9NXG0 Hs.435381 1738257;1760729;2155462;5094823 AGAT142;D9S1218;D9S1709;SHGC-144253 C9orf101;C9orf39;FLJ20276;FLJ25636;RP11-340N12.1;bA340N12.1 OTTHUMP00000021082;OTTHUMP00000021083;centlein;centrosomal protein;chromosome 9 open reading frame 39 protein-coding ENSG00000044459 23432 10800 611870 VALIDATED 735525 CNR1 cannabinoid receptor 1 (brain) This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009] 6 6 q14-q15 88906302 88911775 - 88849583 88875767 - 1358448;1358449;1580863;1626329;1626325;1626328;1626326;2314629;2314630;2314631;2314632;2314633;2314640;2314658;2314664;2314675;2314678;2314680;2314672;2314674;2314676;2314634;2314649;2314645;2316199;2316217;6480464;6484113 9106242;11803524;11841893;17405839;15613777;17292652;19530697;19325539;18810243;18678611;18401837;19827302;19595742;19493421;19368833;19208344;19133994;19414037;19372445;19295473;17850365;19661434;19681872;18930143;18771032 22033526;1718258;19598235;19539700;19485422;19420965;19366584;19366059;19274719;19242408;19217452;19165169;19103987;19093002;19089403;19086053;19077438;19058789;19052543;19046818;19018721;19016476;19014633;19008645;18830626;18815063;18799087;18776593;18761332;18705688;18676872;18618671;18606956;18606954;18606950;18599552;18579347;18519829;18483286;18477688;18375449;18354002;18336811;18331587;18319252;18287809;18285348;18267983;18213623;18186055;18179391;18174385;18165231;18156315;18092149;18064064;17978319;17942526;17923791;17881126;17873324;17712725;17684478;17683024;17678969;17669634;17655760;17595161;17533584;17509535;17508995;17449448;17384224;17370106;17284627;17270342;17160086;17074588;17068343;17065342;17041005;17015679;16962033;16917946;16818376;16788767;16741937;16715087;16712507;16634642;16623851;16365309;16344560;16314880;16263116;16204352;15952782;15927811;15728830;15668727;15657045;15620723;15562018;15489334;15472222;15289816;15108190;14966476;14966196;14755457;14749627;14714115;14628192;14580383;14574404;12970790;12920192;12767117;12752773;12690115;12511587;12497582;12477932;12435806;12237474;12153574;12095632;12082570;12060783;11894096;11860478;11727770;11353438;11324942;11214319;11168387;11140838;10762343;10454705;8889548;7876112;2263478;2165569;1931832;15688035;21472688;21266946;21459482;22567136;22678129;20494466;19913121;20015515;20587580;20628086;20631561;20621164;20307616;18577758;20506110;20607655;20854251;20406692;20852034;19730968;19766594;19801960;19837905;19839995;19854014;19858202;19874574;19919870;19938110;19942623;19944766;19956878;20007426;20010552;20010914;20041802;20049372;20080186;20090845;20107430;20124735;20192949;20195480;20197196;20204253;20391958;20415562;20468064;20505532;18240029;19419760;19443135;19477951;19481011;19547718;19596672;19652957;19659925;19725030;20929960;2834384;21062041;17356572;20369362;20720046;20808855;20555313;20606244;20691427;20734064;20838400;20851297;20885390;21041608;20602678;20862263;21373835;21666969;21251115;21908614;21129839;21346174;21044623;21234731;21244428;21306178;21050275;21148019;21450051;22029183;20680268;23161546;21808284;23142606;23449980;22669173;21203460;21209828;22789143;22846992;20705472;21396980;21472841;20863671;21420833;21513772;21471673;21693703;22826533;22995906;21034788;21795705;22976112;21477106;22035053;21442624;21931835;22037868;22087025;22542985;22763024;22926037;22948261;21603976;22370152;22393204;22532560;15657046;21901119;22244745;21443454;21590281;21633404;21892520;22085192;21471953;21480765;21543209;22362764;21863215;22256945;22431736;22534181;22701012;21156413;22850347;22940268;22944513;23306084;23167744;23277241;22138970;21695734;22827915;23057570;22334331;18941231;23010766 1268 F8W187;F8W908;Q5UB37 ABBA01040515;ABBA01040516;AF107262;AK313908;AL121835;AL136096;AMYH01016497;AY011601;AY225225;AY766182;AY995204;BC074811;BC074812;BC095513;BC100968;BC100969;BC100970;BC100971;BM682178;BX538191;CH471051;DA128033;DA239984;DA768458;DA793373;DA799263;DQ067455;NM_001160226;NM_001160258;NM_001160259;NM_016083;NM_033181;U73304;X54937;X81120;X81121 AAB18200;AAD34320;AAG37765;AAH74811;AAH74812;AAH95513;AAI00969;AAI00970;AAI00971;AAI00972;AAO67710;AAV35030;AAY21179;AAY68486;BAG36631;CAA38699;CAA57018;CAA57019;EAW48574;EAW48575;EAW48576;NP_001153698;NP_001153730;NP_001153731;NP_057167;NP_149421;P21554 Hs.75110 1676075;1735628;1793044;2113828;2116384;2140598;2166415;2180679;2187170;5492693;5492789 CNR1;D6S1243E;D6S1909;PMC193595P1;RH70837;RH79168;RH80958;SHGC-35377;UniSTS:482039;UniSTS:482606;WI-19695 CANN6;CB-R;CB1;CB1A;CB1K5;CB1R;CNR OTTHUMP00000016838;OTTHUMP00000016839;OTTHUMP00000214579;OTTHUMP00000241185;cannabinoid receptor 1;central cannabinoid receptor APPROVED protein-coding ENSG00000118432 2159 00259 114610 REVIEWED 7246707 CNTFR-AS1 CNTFR antisense RNA 1 12477932 415056 ABBA01065011;AL160270;AMYH01019338;BC033987;BC038740;BC042806;NR_024369 Hs.734229 miscrna 48712 VALIDATED 6481438 CNTN4-AS1 CNTN4 antisense RNA 1 100873975 AC022002 APPROVED miscrna 39985 6481328 CNTN4-AS2 CNTN4 antisense RNA 2 3 2152093 2185925 - 100873976 ABBA01020493;AC087427;AMYH01012937;AMYH01012938;BE041831;NR_046555 Hs.611138 APPROVED miscrna 39986 VALIDATED 734034 CNTF ciliary neurotrophic factor The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010] 11 11 q12.2 58146721 58149778 + 58390146 58393206 + 734795;734797;734796;1358522;1580863;1626112;1626113;1626114;1626122;6480464;1626115;6907045 9121555;11259650;11951178;8834105;11890844;12404108;14747836;16675997;14725620 9236223;8627290;8449041;8075647;7852996;7810882;7796798;7753485;7597043;2294592;1915374;1883844;1861138;1281789;1714745;12643274;17353931;1840538;19086053;19082510;18728012;18669911;18603262;18524890;18303965;18293418;18282590;18203754;17651970;17563726;17272411;17192435;16969278;16797081;16696750;16344560;16210701;16181490;15843428;15489334;15474906;15180291;15047605;14715713;12890930;12477932;12470191;11857064;11849142;11464862;10812968;10391209;19913121;20584990;20628086;16051226;18583979;19008309;19453261;19525893;19573019;19628720;19751193;19833146;20219210;20378664;18029348;20428961;10966616;21912637;20952820;22337942;23128233;23194670 1270 P26441 ABBA01021491;AK314118;AMYH01003661;AP001350;AP003557;BC068030;BC069167;BC074963;BC074964;CH471076;DB241497;DB341875;NG_008776;NM_000614;S72921;X55889;X55890;X60477;X60478;X60542 AAB31818;AAH68030;AAH69167;AAH74963;AAH74964;BAG36809;CAA39374;CAA43009;CAA43032;EAW73819;NP_000605;P26441 Hs.524920 1668662;1742269;1743609;1768697;1797416;2110061;2113960;5037744 CNTF;CNTF_1913;D11S4596;D1S3694;GDB:194646;GDB:360980;WI-12111;ZFP91__4947 HCNTF OTTHUMP00000174731;ciliary neurotrophic factor APPROVED protein-coding ENSG00000242689 2169 00347 118945 REVIEWED 1344115 CNTFR ciliary neurotrophic factor receptor This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] 9 9 p13 34541431 34579722 - 34551430 34590138 - 1580863;6480464;6907045 22343487;7585948;12707266;12643274;1648265;19086053;18307269;18203754;17436251;17272411;16782820;16189514;15489334;15272019;12807897;12477932;11943154;11464862;11294841;11285233;10966616;10812968;8627290;8244400;7810882;7774913;17474147;19204726;19386761;19453261;20219210;20237496;20379614;20340160;16344560;8889548;23061382;21900206 1271 P26992;Q5T8H6 ABBA01065009;ABBA01065010;ABBA01065011;AK127444;AL160270;AL537375;AMYH01019338;BC001492;BI545014;BI829871;BM714356;BT019824;BX364434;CH471071;DB311865;L38020;L38021;L38022;L38023;L38024;L38025;M73238;NM_001207011;NM_001842;NM_147164 AAA35707;AAA91337;AAH01492;AAV38627;ABM86381;ABW03790;BAG54504;EAW58445;EAW58446;EAW58447;EAW58448;NP_001193940;NP_001833;NP_671693;P26992 Hs.129966 1683507;1697506;1720535;1735852;1765947;5017839 CNTFR;D9S985E;G59221;RH102255;RH80199;SHGC-149348 MGC1774 CNTF receptor subunit alpha;CNTFR alpha;CNTFR-alpha;OTTHUMP00000021270;OTTHUMP00000021271;OTTHUMP00000021272;ciliary neurotrophic factor receptor alpha;ciliary neurotrophic factor receptor subunit alpha APPROVED protein-coding ENSG00000122756 2170 00348 118946 REVIEWED 732842 CNTN3 contactin 3 (plasmacytoma associated) 3 3 3 p12.3 74247090 74505253 - 74394412 74653033 - 74311722 74570343 - 631992;1580863;6480464 8586965 18272596;19497516;19086053;16641997;16335952;14702039;11013081;10819331;8661054;8108413;12477932;20379614;20360857 5067 Q9P232 AB040929;ABBA01030975;ABBA01030976;ABBA01030977;AC016950;AC024222;AC128653;AC128656;AK001157;AL512746;AMYH01013285;BC150608;BX951442;CH471055;DR002512;NM_020872 AAI50609;BAA96020;CAC21671;EAW65535;NP_065923;Q9P232 Hs.12723 1657926;1668504;1675287;1696982;1700322;1852462;2111586;2120687;2150158;2152767;2169030;2173339 A003M43;D13S1535;D3S2991;G15803;G16560;RH101963;RH103781;RH12055;SHGC-14155;SHGC-30572;STS-D62792;WI-14253 BIG-1;KIAA1496;PANG;PCS OTTHUMP00000213533;brain-derived immunoglobulin superfamily protein 1;contactin-3;plasmacytoma-associated neuronal glycoprotein protein-coding ENSG00000113805 2173 601325 VALIDATED 734311 CNTN2 contactin 2 (axonal) The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. [provided by RefSeq, Jul 2008] 1 1 q32.1 203278963 203313761 + 205012340 205047171 + 631992;734799;1580863;6480464 8586965;11280781 9403076;8425542;19451620;19416878;19086053;17822827;17766378;16710414;16335952;15340161;14991578;14702039;12975355;12477932;12139915;10830169;9032250;8663515;8586412;8344273;8307567;8242070;3272160;1838307;1720120;11264182;14697242;9837910;16611882;12963709;16767081;17891179;17942533;17986383;19776380;16424386;20029029;15146197;16865259;10567539;12370815;16409643;16822311;21696500;22058115;19064727;19609363;21054678;21532619;22003931;10766811;11279015;22462668;15806143;23518707 6900 A1L3A3;Q02246 AB074271;ABBA01027433;ABBA01027434;AK095531;AK124736;AK289985;AK309108;AL583832;AMYH01001667;BC036477;BC129986;CH471067;CN289415;CR749495;NM_005076;X67734;X68274;X84419;X84420;X92681 AAI29987;BAF82674;BAG54084;CAA47963;CAA48335;CAA59137;CAA63365;CAH18318;EAW91533;EAW91534;NP_005067;Q02246 Hs.519220 1341007;1645248;1659368;1721811;1754311;1768713;1787538;1846639;2107001;5094392 CNTN2_7885;D1S2773;G54651;G59928;RH70875;SHGC-132335;SHGC-155664;SHGC-76210;SHGC-76214;WI-15551 AXT;DKFZp781D102;FLJ37193;FLJ42746;MGC157722;TAG-1;TAX;TAX1 OTTHUMP00000035179;TAX-1;axonal glycoprotein TAG-1;axonin-1 cell adhesion molecule;contactin 2;contactin 2 (transiently expressed);contactin-2;transient axonal glycoprotein 1;transiently-expressed axonal glycoprotein APPROVED protein-coding ENSG00000184144 2172 01826 190197 REVIEWED 734326 CNTN5 contactin 5 The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q22.1 96061589 97396830 + 98397081 99732683 + 98891706 100229616 + 6480464 22610502;20889312;20558387;18272596;19086053;17903304;17903297;12477932;11069942;11013081;1838307;20379614;20398908;20800603;19913121;20628086;8889548;18029348;23049088;23251661 53942 E9PKF9;O94779 AB013802;AB013803;ABBA01039969;ABBA01039970;ABBA01039971;ABBA01039972;ABBA01039973;ABBA01039974;ABBA01039975;ABBA01039976;ABBA01039977;ABBA01039978;ABBA01039979;ABBA01039980;ABBA01039981;ABBA01039982;ABBA01039983;ABBA01039984;ABBA01039985;AK294692;AK308788;AMYH01003980;AMYH01003981;AMYH01003982;AMYH01003983;AMYH01003984;AMYH01003985;AMYH01003986;AP000760;AP000798;AP000923;AP001892;AP001988;AP002378;AP002428;AP002987;AP003126;AP003441;AP003558;AP004249;BC039255;BC130619;BC144185;BC144186;BM697855;BU737133;BX090703;CH471065;NM_001243270;NM_001243271;NM_014361;NM_175566;R26700 AAH39255;AAI30620;AAI44186;AAI44187;BAA36579;BAA36580;BAG57851;EAW66992;EAW66993;NP_001230199;NP_001230200;NP_055176;NP_780775;O94779 Hs.656783 1338170;1341530;1653543;1659672;1671711;1685289;1705332;1708720;1708732;1710184;1710522;1716865;1732379;1737951;1737959;1738061;1738145;1750905;1782312;1782340;1782362;1782378;2116422;2138511;2170454;2186355 A004Z04;D11S1212;D11S1756;D11S1857;D11S1891;D11S2104;D11S3560;D11S3567;D11S3677;D11S3764;RH11653;RH121726;RH12521;RH70150;SHGC-104685;SHGC-13158;SHGC-142495;SHGC-145020;SHGC-149567;SHGC-153428;SHGC-81571;SHGC-81582;SHGC-82361;SHGC-83515;SHGC-86288;WI-14840 HNB-2s;MGC163491;NB-2 OTTHUMP00000236212;OTTHUMP00000236213;OTTHUMP00000236214;OTTHUMP00000236286;contactin-5;neural adhesion molecule;neural recognition molecule NB-2 APPROVED protein-coding ENSG00000149972 2175 06241 607219 REVIEWED 732231 CNTN1 contactin 1 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 12 12 q11-q12 39372625 39750361 + 41086244 41466214 + 631992;734798;1580863;6480464;6484113;7240710 8586965;10595523 7959734;19086053;19026398;18464913;16510572;16335952;16078236;15489334;15146195;14761957;14676309;14592966;14567914;12700241;12477932;12139915;11567041;11556889;10103110;9651216;9584610;9335257;9081628;9049255;8164510;7628014;7595520;1838307;20379614;21482472;17500595;21805024;16344560;16368877;16865674;21969550;8889548;21900206;22581910;22321011;22580838;22360968;22925353;23382691 1272 F8VQW3;F8VUI8;F8VUI9;F8VX96;H0YIJ1;Q12860 ABBA01031374;ABBA01031375;ABBA01031376;ABBA01031377;ABBA01031378;AC015540;AC016144;AC024900;AC074030;AC129108;AI473107;AK289544;AK289698;AMYH01004395;AMYH01004396;AMYH01004397;AMYH01004398;BC036569;BM717031;BX648591;BY799936;CH471111;DA215712;DQ442053;DQ442054;NG_012058;NM_001256063;NM_001256064;NM_001843;NM_175038;U07819;U07820;Z21488 AAA67920;AAA67921;AAH36569;BAF82233;BAF82387;CAA79696;EAW57822;EAW57823;EAW57824;NP_001242992;NP_001242993;NP_001834;NP_778203;Q12860 Hs.143434;Hs.739161;Hs.741112 1335393;1668145;1671931;1676087;1683221;1717599;1724185;1730177;1733518;1739755;1744033;1746191;1746285;1746317;1746371;1746797;1746799;1751407;1768161;1857241;2114855;2148438;2150522;2159560;2164055;2169263;2169265 AFMa106vd5;D12S1065;D12S114E;D12S1526E;D12S1668;D12S860;G10362;G31049;G64355;G64356;G64645;G64646;G64794;G64795;GDB:384884;RH121228;RH122104;RH15725;RH66339;RH80961;RH93881;SHGC-105239;STS-H29473;WI-15428;WI-19166;WI-21903;WI-7876 F3;GP135 OTTHUMP00000240894;OTTHUMP00000240899;contactin-1;glycoprotein gP135;neural cell surface protein F3 APPROVED protein-coding ENSG00000018236 2171 07189 600016;612540 REVIEWED 1604153 CNTNAP3B contactin associated protein-like 3B 9 9 p11.2 43624821 43864049 + 43684885 43922476 + 6480464 15820314;14702039;15164053;21906983 728577 F2Z2X5;Q9H7W3 ABBA01011690;ABBA01147977;AC025861;AMYH01020268;AMYH01020269;AMYH01020270;AMYH01020271;AMYH01020272;AMYH01020273;AMYH01020274;AMYH01020275;AMYH01020276;AMYH01020277;AMYH01020278;AMYH01020279;AMYH01020280;AMYH01020281;AMYH01020282;BX538190;BX649569;BX664735;CR788268;NM_001201380 CAD98060;CAI16324;CAI16325;CAI16326;CAI95321;NP_001188309;Q96NU0 Hs.521495 5038488;5125053 RH66553;SHGC-34564 DKFZp686I15204 OTTHUMP00000064574;OTTHUMP00000064576;cell recognition molecule Caspr3b;contactin associated protein-like 3B;contactin-associated protein-like 3B protein-coding ENSG00000154529 32035 VALIDATED 1349263 CNTN4 contactin 4 This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 3 3 p26.3 2117247 3074645 + 2140550 3099645 + 631992;1580863;6480464 8586965 18272596;15106122;14571131;18349135;17915252;17903302;17030759;16335952;15489334;14702039;12477932;12202991;9221934;19913121;20628086;15198677;19451621;19509545;19578179;19736351;20201926;16344560;17036314;18837054;20101686;21116278;21079607;18551756;19262165;19404257;20233874;21308999;21445711;21457564;22990118;22318345;22449649;21145461;22750301;23471985 152330 C9JGK9;C9JIY1;C9JMQ2;F8WD58;G3XAD4;H0Y8U1;Q8IWV2 ABBA01020486;ABBA01020487;ABBA01020488;ABBA01020489;ABBA01020490;ABBA01020491;ABBA01020492;ABBA01020493;AC018842;AC022002;AC022008;AC024057;AC026882;AC066608;AC087094;AC087427;AF464063;AF549455;AI022097;AK057278;AK095729;AK097633;AK125460;AK314396;AMYH01012937;AMYH01012938;AMYH01012939;AMYH01012940;AMYH01012941;AMYH01012942;AMYH01012943;AMYH01012944;AMYH01012945;AY090737;BC013797;BC026119;CH471055;DA063654;DA796385;DB457029;NG_012827;NM_001206955;NM_001206956;NM_175607;NM_175613;R42166 AAH26119;AAM00025;AAN86141;AAP05786;BAG37020;BAG51896;BAG53116;BAG53498;EAW63873;EAW63874;EAW63875;EAW63876;EAW63877;EAW63878;NP_001193884;NP_001193885;NP_783200;NP_783302;Q8IWV2 Hs.298705;Hs.626418 1336912;1337046;1337917;1645661;1645840;1652078;1653527;1655719;1691132;1705130;1712711;1717857;1720297;1721753;1723441;1755007;1756085;1757287;1763217;1763871;1765695;1775610;2150436;5037552;5094774 D3S2358;D3S3525;D3S3630;D3S3972;D3S4051;D5S1982;D8S2279;G19165;G59744;MFD433-AGA;RH118539;RH11898;RH121052;RH122760;RH123897;RH68658;RH92569;SHGC-141955;SHGC-142879;SHGC-144696;SHGC-146949;SHGC-147539;SHGC-149135;SHGC-56908;SHGC-79997 AXCAM;BIG-2;CNTN4A;MGC33615 OTTHUMP00000147566;OTTHUMP00000147567;OTTHUMP00000209582;axonal-associated cell adhesion molecule;brain-derived immunoglobulin superfamily protein 2;contactin-4;neural cell adhesion protein BIG-2 APPROVED protein-coding ENSG00000144619 2174 16239 607280 REVIEWED 1313519 CNTNAP5 contactin associated protein-like 5 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 118108942 118998311 + 124499334 125389334 + 124782864 125672864 + 1580863;6480464 17903302;16845472;14702039;19721433;20346443;20379614;20451256;20339536;23382691;22885689 129684 Q8WYK1 AB077881;ABBA01032273;ABBA01032274;ABBA01032275;ABBA01032276;ABBA01032277;ABBA01032278;ABBA01032279;ABBA01032280;ABBA01032281;ABBA01032282;ABBA01032283;AC010901;AC019105;AC019159;AC074362;AC079154;AC092158;AC097715;AC104648;AC105762;AI199572;AK056528;AMYH01011007;AMYH01011008;AMYH01011009;AMYH01011010;AMYH01011011;CH471103;NM_130773 AAI48398;AAX81997;AAX88894;AAX88904;AAY14716;AAY15042;AAY24250;BAB71205;BAB83897;EAW95266;EAW95267;EAW95268;EAW95269;NP_570129;Q8WYK1 Hs.660653 1341839;1669820;1714767;1716725;1720383;1749027;1764699;1770333;1784336;1787628;1787690;1787744;1854567;2156547;2157674;2172982;2175975;2179354 D2S1974;D2S2055;D2S257;G15818;G16356;G16477;RH11889;RH120049;RH121654;RH123943;RH16682;SHGC-110666;SHGC-148288;SHGC-155997;SHGC-156166;SHGC-173343;SHGC-33202;SHGC-89274 FLJ31966;caspr5 OTTHUMP00000203755;cell recognition molecule Caspr5;contactin-associated protein-like 5 APPROVED protein-coding ENSG00000155052 18748 16732 610519 REVIEWED 734159 CNTNAP1 contactin associated protein 1 The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009] 17 17 17 q21 37490091 37507480 + 38088158 38105358 + 40834632 40852011 + 70689;1580863;6480464 9118959 19372141;19086053;14592966;12477932;11839274;11496158;9407060;22315232;8889548;9535855;17474147;19423540;20406964;20438785;22360420;23192594;22190034;22268729 8506 K7EMM9;P78357 ABBA01006414;AC100793;AMYH01008398;BC171797;BU729460;CH471152;NM_003632;U87223 AAB48481;AAI60132;EAW60867;EAW60868;EAW60869;NP_003623;P78357 Hs.408730 1649949;2135755;2169183;2169247 D17S2094;STS-U17905;STS-Z40888;WI-16114 CASPR;CNTNAP;NRXN4;P190 caspr1;contactin-associated protein 1;neurexin 4;neurexin IV;neurexin-4 APPROVED protein-coding ENSG00000108797 8011 03825 602346 REVIEWED 733383 CNTN6 contactin 6 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. [provided by RefSeq, Jul 2008] 3 3 3 p26-p25 1075093 1385666 + 1109629 1420278 + 1134629 1445278 + 1580863;6480464;6484113 20339536;9486763;19086053;15489334;14592966;12477932;1838307;21079607;19509545;20379614;20398908;22219177;22589738 27255 F5H752;F8VWS7;F8WDQ0;Q9UQ52 AB003592;ABBA01020501;ABBA01020502;ABBA01020503;AC027123;AC034192;AK294786;AK307814;AK314220;AMYH01012932;AMYH01012933;AMYH01012934;BC036338;BC113118;CH471055;NM_014461 AAI13119;BAA82612;BAG57911;EAW63871;EAW63872;NP_055276;Q9UQ52 Hs.387300 1334709;1705044;1705692;1707494;1714591;1728119;1749571;1750527;1753313;2169136;2183251;5095851;7187784 D3S1307;G16593;G63331;RH119809;RH44311;SHGC-111269;SHGC-111832;SHGC-78040;SHGC-82415;SHGC-83427;SHGC-84547;STS-N30615 MGC133256;NB3 OTTHUMP00000147565;OTTHUMP00000206867;contactin-6;hNB-3;neural adhesion molecule;neural recognition molecule NB-3 APPROVED protein-coding ENSG00000134115 2176 06242 607220 REVIEWED 1348176 CNTNAP3 contactin associated protein-like 3 The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 9 9 p13.1 39062764 39278300 - 39072764 39288300 - 1580863;6480464 12093160;16344560;14702039;12477932;11214970;21906983 79937 A6NC89;B1AM99;B1AMA1;B1AMA2;E2QRH2;F2Z2X6;Q9BZ76 AB051501;ABBA01040076;ABBA01040077;ABBA01040078;ABBA01040079;ABBA01040080;AF333769;AK056833;AK294281;AL162501;AL353729;AMYH01019405;AMYH01019406;AMYH01019407;AMYH01019408;AMYH01019409;AMYH01019410;AMYH01019411;AMYH01019412;AMYH01019413;AMYH01019414;AMYH01019415;AMYH01019416;AMYH01019417;AMYH01019418;AMYH01019419;AMYH01019420;AMYH01019421;AMYH01019422;AMYH01019423;AMYH01019424;AMYH01019425;AMYH01019426;AMYH01019427;AMYH01019428;AMYH01019429;AMYH01019430;AMYH01019431;AMYH01019432;AMYH01019433;AMYH01019434;AMYH01019435;AMYH01019436;AMYH01019437;AMYH01019438;AU130948;AW242597;BC132737;BC144130;CH878599;NM_033655 AAG52889;AAI32738;BAB21805;BAB71293;BAG57566;EAW50585;NP_387504;Q9BZ76 Hs.128474;Hs.521495;Hs.604441 1672636;5038488;5125053 D1S538;RH66553;SHGC-34564 CASPR3;CNTNAP3A;RP11-138L21.1;RP11-290L7.1 OTTHUMP00000021403;OTTHUMP00000021405;cell recognition molecule Caspr3;contactin-associated protein-like 3 APPROVED protein-coding ENSG00000106714 13834 10842 610517 REVIEWED 1315089 CNTNAP4 contactin associated protein-like 4 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q23.1 60613616 60890640 + 74868677 75150636 + 76311176 76593135 + 6480464 18398821;17213182;16344560;14702039;12477932;12421765;12093160;11214970;7757816;22569225;22661486;19844255;20379614;22359512;22952603 85445 E9PDN6;F5H107;Q9C0A0 AB051550;AB100092;AB100093;AB100094;ABBA01017044;ABBA01017045;ABBA01017046;ABBA01017047;ABBA01017048;ABBA01017049;AC010528;AC106741;AF463518;AI352097;AK054786;AK057327;AMYH01007821;AMYH01007822;BC017266;BM544789;CH471114;DA319383;DB050637;DT217898;NM_033401;NM_138994;Z44514 AAI41551;AAL68839;BAB21854;BAB71429;BAC55270;BAC55271;BAC55272;EAW95610;EAW95611;NP_207837;NP_620481;Q9C0A0 Hs.461389 1336397;1337002;1341872;1696602;1711988;1724747;1738837;1783422;2171904;7183999 D16S2890;D16S3083;D16S3118;D16S515;D16S742;RH118447;RH122580;SHGC-155721;SHGC-82903 CASPR4;KIAA1763 OTTHUMP00000211851;OTTHUMP00000211853;cell recognition molecule Caspr4;cell recognition protein CASPR4;contactin-associated protein-like 4 APPROVED protein-coding ENSG00000152910 18747 13079 610518 REVIEWED 1352756 CNTNAP2 contactin associated protein-like 2 This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010] 7 7 q35 145444386 147749019 + 145813453 148118090 + 1580863;6480464;7240710 21193173;10624965;11352571;19166515;19086053;18987363;18512134;18496130;18179894;18179893;17903296;17646849;17392702;16571880;15489334;15203218;14702039;12975355;12853948;12809671;12690205;12542678;12477932;12421765;12093160;10048485;12963709;18179895;18957941;19546859;19582487;19706678;19889080;19896112;20157312;20176116;20200978;20379614;20414140;20446882;20502679;19913121;20421335;20628086;20808326;20889312;20711234;21048216;22744455;21387375;23074245;22948383;21448237;21310003;22500773;21827697;21906983;21987501;22159054;22589738;22365836;23407760;23192594;23251661;23382691;23459443;21565611;22872700;23115634;22429864;22728895;22690117 26047 B2RCH4;B7Z1Y6;H0Y4J0;Q9UHC6 AACC02000041;AB020675;AB073883;ABBA01033566;ABBA01033567;ABBA01033568;ABBA01033569;ABBA01033570;ABBA01033571;ABBA01033572;ABBA01033573;ABBA01033574;ABBA01033575;ABBA01033576;ABBA01033577;ABBA01033578;ABBA01033579;ABBA01033580;ABBA01033581;ABBA01033582;ABBA01033583;ABBA01033584;ABBA01033585;ABBA01033586;ABBA01033587;ABBA01033588;ABBA01033589;ABBA01033590;ABBA01033591;ABBA01033592;AC004856;AC004891;AC004896;AC005378;AC005518;AC005997;AC006004;AC006016;AC006315;AC006456;AC006992;AC007027;AC073112;AC073273;AC073276;AC073308;AC073418;AC073428;AC073644;AC074115;AC079405;AC083849;AC084872;AC092676;AC093172;AF318292;AF318293;AF318297;AF318298;AF319045;AK000960;AK294098;AK296532;AK315113;AMYH01018100;AMYH01018101;AMYH01018102;AMYH01018103;AMYH01018104;AMYH01018105;AMYH01018106;AMYH01018107;AMYH01018108;AMYH01018109;AMYH01018110;AMYH01018111;AMYH01018112;BC093780;BC113373;CD625182;CD625192;CH471146;CR933671;CS321220;NG_007092;NM_014141 AAC36298;AAC71656;AAD50520;AAH93780;AAI13374;AAK34932;AAK49901;AAK49902;AAK49903;AAK49904;AAP21885;AAP21888;AAP21890;AAP22353;AAP22358;AAS00355;AAS02006;AAS07427;AAS07479;AAS07480;AAS07543;AAS07562;BAA74891;BAG37571;BAH11672;BAH12379;CAI45967;CAK96045;EAL24417;EAW80082;EAW80083;EAW80084;NP_054860;Q9UHC6 Hs.655684 1337148;1340720;1644155;1644347;1648682;1650952;1657404;1657768;1657807;1658061;1662196;1667497;1672603;1673216;1674149;1676148;1676470;1687121;1695114;1695494;1696638;1707976;1708706;1714905;1723077;1724071;1727515;1735652;1747899;1752715;1761017;1762761;1763055;1765899;1771350;1778963;1779532;1786240;1786442;1786492;1787634;1847848;1854327;1854571;1855754;1857155;2126907;2130000;2132435;2133569;2139871;2142111;2143613;2143615;2152590;2154263;2156955;2160388;2166678;2167430;2169397;2170386;2171986;2172949;2174338;2176595;2176924;2180028;2186828;2187112;5109281;5494098;7183710;7186550 A006A14;AFM177xd6;AFMa082xc9;D1S1425;D7S1443;D7S1883;D7S2086E;D7S2247;D7S2352;D7S2511;D7S2692;D7S615;D7S739;G10405;G17196;G20646;G48196;G63015;G66883;GDB:1234254;GDB:1317468;GDB:1317490;GDB:1317500;GDB:1317522;GDB:1317592;GDB:1317638;GDB:1318058;GDB:1318092;GDB:1318130;GDB:1318136;GDB:1318162;GDB:1318218;GDB:1318378;GDB:1318643;GDB:1318708;GDB:1318716;GDB:3754357;GDB:3755029;GDB:3755031;RH11687;RH119047;RH120447;RH121890;RH18453;RH18454;RH46536;RH64839;RH78475;RH93051;RH93425;SHGC-106566;SHGC-132899;SHGC-144982;SHGC-146544;SHGC-146796;SHGC-149313;SHGC-153501;SHGC-156000;SHGC-172105;SHGC-24343;SHGC-31280;SHGC-5619;SHGC-68650;SHGC-80946;SHGC-81498;SHGC-82952;SHGC-84652;WI-10718;WI-13838;WI-15593;WI-21561;fc79b09.x1 AUTS15;CASPR2;CDFE;DKFZp781D1846;NRXN4;PTHSL1 OTTHUMP00000202306;cell recognition molecule Caspr2;contactin-associated protein 2;contactin-associated protein-like 2;homolog of Drosophila neurexin IV APPROVED protein-coding ENSG00000174469 13830 05197 604569;610042;612100 REVIEWED 1602710 COA4 cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae) 11 11 11 q13.4 70890633 70894811 - 73261360 73265538 - 73583712 73587890 - 6480464 16381901;15489336;12477932;11230166;11085516;11076863 51287 Q9NYJ1 ABBA01017503;AF242180;AK000434;AL359618;AMYH01003811;AP002770;BC106036;CH471076;NM_016565 AAF60345;AAI06037;CAH10681;CAL37680;EAW74914;EAW74915;EAW74916;NP_057649;Q9NYJ1 Hs.475387 2109269;2129954;2165740;5092762 A006A30;E2IG2_9698;G32313;STS-T99047 CHCHD8;CMC3;DKFZp762H1711;E2IG2;MGC117206 E2-induced gene 2 protein;OTTHUMP00000237774;coiled-coil-helix-coiled-coil-helix domain containing 8;coiled-coil-helix-coiled-coil-helix domain-containing protein 8;cytochrome c oxidase assembly factor 4 homolog, mitochondrial APPROVED protein-coding ENSG00000181924 24604 06421 608016 VALIDATED 1313275 CNTRL centriolin This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] 9 9 q33.2 122890395 122979707 + 123850574 123939886 + 6480464 16213214;16112646;15337773;14702039;12732615;12477932;11956314;10965126;10688839;10359848;10187805;8889548;11076968;12221128;12852856;16462731;20379614;20508983;7790358;20936779;22610502;17140400;19850743;21139048;21890473 11064 Q5JVD1;Q5JVD2;Q5JVD3;Q5JVD5;Q5JVD6;Q8TEP3;Q8WX70 AA287401;ABBA01016234;ABBA01016235;AF083322;AF513978;AK074079;AK090600;AK093457;AK097636;AK128098;AK297330;AK307387;AL080231;AL137068;AMYH01021692;AY651261;BC002932;BC009287;BC089415;BC137284;BC137286;BX640927;CF142611;NM_007018 AAC32373;AAH02932;AAH89415;AAI37285;AAI37287;AAP43846;AAX35689;BAB84905;BAC87273;BAG59789;CAE45965;NP_008949;Q7Z7A1 Hs.653263 1663936;1714787;1764809;1865826;2143168 REN3576;RH120059;RH79002;SHGC-148376;WI-11957 CEP1;CEP110;FAN;bA165P4.1 110 kDa centrosomal protein;OTTHUMP00000022002;OTTHUMP00000158535;bA165P4.1 (ortholog of mouse Ma2a8);bA165P4.2 (centrosomal protein 1);centriole associated protein;centriolin;centrosomal protein 1;centrosomal protein 110kDa;centrosomal protein of 110 kDa APPROVED protein-coding ENSG00000119397 1858 05691 605496 REVIEWED 1601863 COA1 cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) 7 7 7 p13 43668728 43758937 - 43645384 43735608 - 43670751 43769140 - 6480464 14702039;12477932;17207965;21906983;22356826;21145461;21504906 55744 C9J6J1;C9JA07;F2Z2D1;F2Z2J3;F8WBS2;Q9GZY4 AACC02000040;ABBA01058188;ABBA01058189;ABBA01058190;ABBA01058191;ABBA01058192;AC005189;AK001665;AK021905;AK023007;AK023053;AK097203;AK127933;AK129690;AK293043;AK309315;AMYH01017206;BC056884;CH236951;CH471073;NM_018224;NR_047701 AAH56884;ADQ33122;BAA91821;BAB13932;BAB14356;BAB14379;BAF85732;BAG53433;EAW94165;EAW94166;EAW94167;EAW94168;EAW94169;EAW94170;NP_060694;Q9GZY4 Hs.655165 1646913;1654220;1654891;1665844;1676482;1686983;2145562;2152384;2153765;2155560;2155799;2175827 A001X28;D7S1397;D7S2799;D7S743;G17155;G17198;GDB:4585463;RH16240;RH26508;RH91776;STS-T51004;WI-11641 C7orf44;FLJ10803;MITRAC15 OTTHUMP00000194892;OTTHUMP00000194893;OTTHUMP00000207458;OTTHUMP00000207459;OTTHUMP00000207461;OTTHUMP00000207464;OTTHUMP00000207465;OTTHUMP00000207466;cytochrome c oxidase assembly protein 1 homolog;cytochrome oxidase assembly 1;cytochrome oxidase assembly protein 1 homolog;hypothetical protein LOC55744;mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa;uncharacterized protein C7orf44 APPROVED protein-coding ENSG00000106603 21868 07700 614769 VALIDATED 1606307 COA3 cytochrome c oxidase assembly factor 3 This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012] 17 17 17 q21 37605639 37606691 - 38203178 38204230 - 40949652 40950704 - 6480464 15489334;12477932;11042152;23260140;22610097;21890473;22356826;8125298;16344560;7490091 28958 K7EPV0;Q9Y2R0 ABBA01006407;AC016889;AF070665;AK225611;AK290863;AK295023;AL524532;AMYH01008398;AU122748;BC002698;CH471152;L38939;NG_016227;NM_001040431 AAD20971;AAH02698;ABM84374;ABW03549;BAF83552;BAH11952;EAW60884;EAW60885;NP_001035521;Q9Y2R0 Hs.16059 1777423;2120322;2169565 RH45445;STS-U18006;WI-17766 CCDC56;FLJ50764;HSPC009;MITRAC12 coiled-coil domain containing 56;coiled-coil domain-containing protein 56;cytochrome C oxidase assembly factor 3 homolog, mitochondrial;cytochrome c oxidase assembly protein 3 homolog, mitochondrial;cytochrome oxidase assembly;mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa APPROVED protein-coding ENSG00000183978 24990 614775 REVIEWED 1603924 CNTROB centrobin, centrosomal BRCA2 interacting protein This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p13.1 7863187 7880713 + 7776198 7793621 + 7835442 7853237 + 6480464 11984006;16275750;17535851;16713569;15498874;15489334;14702039;12477932;21576394;18029348;20085806;20190801;20508983;20511645;15146197;21963094;23001753;21987572;21139048;21906983;22505724 116840 I3L0P9;I3L1A6;I3L1B0;I3L1E9;I3L1Z8;I3L3N2;I3L465;Q8N137 ABBA01054890;ABBA01054891;AC104581;AF141344;AF331638;AI494457;AK074847;AK293076;AK303093;AL833907;AMYH01008086;AMYH01008087;AY160226;AY160227;BC014055;BC021134;CH471108;CN390730;NG_029754;NM_001037144;NM_053051 AAG49447;AAH14055;AAH21134;AAL56068;AAO22135;AAO22136;ABM82964;ABM86155;BAC11241;BAF85765;BAG64203;CAD38763;EAW90104;EAW90105;EAW90106;EAW90107;EAW90108;NP_001032221;NP_444279;Q8N137 Hs.348012 1856326;2161385;2189419;2189447;5021706 MARC_5489-5490:991939649:1;MARC_6307-6308:992007230:1;RH78633;WI-18598;ksks299 LIP8;PP1221 LYST-interacting protein 8;LYST-interacting protein LIP8;centrobin;centrosomal BRCA2 interacting protein;centrosomal BRCA2-interacting protein APPROVED protein-coding ENSG00000170037 29616 13991 611425 REVIEWED 1352630 COD2 cone dystrophy 2 (X-linked) 7240710 9199568 1275 2182 614576;615328 1604134 COA5 cytochrome c oxidase assembly factor 5 This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011] 2 2 2 q11.2 93419589 93428679 - 98582297 98591387 - 99215786 99224981 - 6480464;7240710 12477932;21457908;21832049;16344560;22356826 493753 B9A057;Q86WW8 ABBA01073966;AC010134;AI002968;AK131034;AMYH01010797;BC047722;CH471127;DA214157;NG_031918;NM_001008215 AAH47722;AAX93231;ADR82642;EAX01903;NP_001008216;Q86WW8 Hs.596537 1677534;1734994;2175606;2175661 D2S1730E;RH45728;RH70762;STS-N89909 6330578E17Rik;C2orf64;MGC52110;Pet191 OTTHUMP00000203122;Pet191 protein;cytochrome c oxidase assembly factor 5;hypothetical protein LOC493753;protein C2orf64 APPROVED protein-coding ENSG00000183513 33848 17563 220110;613920 REVIEWED 1352912 COA6 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) 1 1 1 q42.2 207780333 207790700 + 232576052 232586414 + 234509214 234519795 + 6480464 22984289;16710414;16381901;15489336;15489334;12477932;11076863;11329013;16712791;20877624;22939629;22356826;21890473;22277967 388753 Q5JTJ3 ABBA01033094;AL355472;AMYH01001831;AMYH01001832;BC025793;BC035925;BC052810;BC064905;BC116455;BG195363;CB136291;CH471098;NM_001012985;NM_001206641 AAH25793;AAI16456;CAL38197;CAL38653;EAW69992;NP_001013003;NP_001193570;Q5JTJ3 Hs.23198 1667908;1699236;1771502 RH103199;SHGC-76538;SHGC-76585 C1orf31 OTTHUMP00000036046;cytochrome c oxidase assembly factor 6 homolog;hypothetical protein LOC388753;uncharacterized protein C1orf31 APPROVED protein-coding ENSG00000168275 18025 18535 614772 VALIDATED 1318365 COCH cochlin The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008] 14 14 q11.2-q13 30413516 30429573 + 31343741 31359822 + 1600878;1580863;6480464;7240710 9806553 19161137;19098315;19013156;18312449;17926100;17561763;17368553;17264471;17138532;16951386;16835921;15579465;14718574;14512963;14501450;12975309;12928864;12843317;12477932;11709536;11574466;11568667;11295836;10400989;9931344;9441737;8817345;8417734;7829101;1910721;20447147;19657184;19933177;20228067;20237496;20105107;21046548;21774451;22610276;17944208;21886777;20301607;22139968 1690 E7EN67;G3V4C4;G3V5G6;G3V5V4;G3V5X3;H0YJJ0;H0YJW4;O43405;Q96IU6 ABBA01061405;AF006740;AK123362;AK130273;AK292724;AL049830;AMYH01005638;AW629100;AY358900;AY916789;BC000640;BC007230;BC018827;CH471078;NG_008211;NM_001135058;NM_004086;U09203 AAC39545;AAH07230;AAQ89259;AAW82432;BAC85316;BAF85413;BAG53895;EAW65963;EAW65964;EAW65965;NP_001128530;NP_004077;O43405 Hs.21016 1768191;2107003;2177905 COCH__4606;D14S670E;WI-12411 COCH-5B2;COCH5B2;DFNA9 OTTHUMP00000178782;OTTHUMP00000244070;OTTHUMP00000244072;OTTHUMP00000244075;coagulation factor C homolog, cochlin (Limulus polyphemus);cochlin APPROVED protein-coding ENSG00000100473 2180 04431 601369;603196 REVIEWED 1323755 COBL cordon-bleu WH2 repeat protein 7 7 7 p12.1 51148737 51449348 - 51051404 51351990 - 51083909 51384515 - 6480464 19240061;19058789;16344560;15489334;15345747;14512015;12477932;9734811;7586755;19430480;20379614;20936779;22939629;21816349 23242 C9J9X1;H7C1N2;H7C2C4;J3KR05;Q8N304 AACC02000075;AB014533;ABBA01011808;ABBA01011809;ABBA01011810;AC004414;AC005535;AC012372;AK293883;AK308718;AK309254;AL713786;AMYH01017247;AMYH01017248;BC029275;BC045771;BC094695;BC111496;BC136441;BC144099;BC150263;CH236955;CH471128;CR936689;DA245843;NM_015198 AAH29275;AAH45771;AAH94695;AAI11497;AAI36442;AAI44100;AAI50264;BAA31608;BAG57272;CAD28543;EAL23896;EAW60962;EAW60963;NP_056013;O75128 Hs.99141 1342374;1650264;1672394;1672442;1684433;1780276;2128366;2162253;2165721;2179854;2218400;5022672;7184444 COBL;COBL_4605;D7S1430;D7S1970;D7S2422;D7S724;GDB:1317222;RH66457;RH69755;RH92383;SHGC-150799;SHGC-35886 DKFZp686G13227;KIAA0633;MGC131893 OTTHUMP00000209048;OTTHUMP00000209049;OTTHUMP00000209050;cordon-bleu homolog;protein cordon-bleu APPROVED protein-coding ENSG00000106078 22199 10843 610317 VALIDATED 1319028 COBLL1 cordon-bleu WH2 repeat protein-like 1 2 2 2 q24.3 159151901 159308589 - 165249502 165406174 - 165541256 165697928 - 6480464 16964243;15815621;15489334;14702039;14512015;12477932;10231032;8125298;20936779;20339536;19401544;20379614;20468071;21569526;20686565;22294699;22581228 22837 C9J5Y6;C9J8C4;C9JAU3;C9JK90;C9JWZ0;F8WEK0;G8JL86;H7C1G2;Q53SF7 AB023194;ABBA01004911;AC019181;AI261693;AK001813;AK002054;AK002057;AK075181;AK225849;AK294937;AL049939;AL832824;AMYH01011224;AMYH01011225;AMYH01011226;BC006264;BC071588;BX537877;BX648994;BX649112;CB989062;CH471058;NM_001278458;NM_001278460;NM_001278461;NM_014900 AAH06264;AAH71588;AAX93068;BAA76821;BAG50979;BAG51007;BAH11931;CAB43215;CAD97877;EAX11338;EAX11339;EAX11340;EAX11341;NP_001265387;NP_001265389;NP_001265390;NP_055715;Q53SF7 Hs.470457;Hs.744314 1652623;1655994;1716877;1726521;1852033;1853139;5015961;5022200;5093850 A009X40;D15S1477;G32961;G62641;L18426;RH121732;RH17485;RH68843;SGC34110 COBLR1;KIAA0977 COBL-like 1;OTTHUMP00000082583;OTTHUMP00000082584;OTTHUMP00000204691;cordon-bleu protein-like 1 APPROVED protein-coding ENSG00000082438 23571 10844 610318 VALIDATED 1354088 COASY CoA synthase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. COASY is a bifunctional enzyme that catalyzes the 2 last steps in CoA synthesis. These activities are performed by 2 separate enzymes, phosphopantetheine adenylyltransferase (PPAT; EC 2.7.7.3) and dephospho-CoA kinase (DPCK; EC 2.7.1.24), in prokaryotes (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008] 17 17 q12-q21 37967618 37971821 + 40714092 40718299 + 1580863;1642057;6480464;6907045 11153910 11994049;19482007;18820009;16460672;16344560;16341674;16189514;15589845;15489334;15302935;14702039;14514684;12477932;11980892;11923312;8529999;8125298;19692168;21832049;22863883;22982864;18029348;18781797;21139048;21890473;22318606 80347 K7EN91;K7EP09;K7EPC2;K7EPT0;K7EQ60;K7ES73;K7ESK6;Q13057 ABBA01006420;AC067852;AF208536;AF453478;AK075415;AK092498;AK225485;AK297153;AK303766;AK314076;AL360167;AL360168;AL583142;AL833588;AMYH01008395;AY094602;BC006354;BC020985;BC067254;BM473635;BM781531;BT007168;CH471152;DA131866;DA786254;NG_029442;NM_001042529;NM_001042532;NM_025233;U18919 AAA69699;AAF87955;AAH06354;AAH20985;AAH67254;AAL50813;AAM19996;AAP35832;ADZ15824;BAG36775;BAG59652;BAG64732;EAW60838;EAW60839;EAW60840;NP_001035994;NP_001035997;NP_079509;Q13057 Hs.296422;Hs.742262 1652404;1767439;1767441;2155392 RH67830;RH71206;SHGC-13493;WI-20188 DPCK;FLJ35179;NBP;PPAT;UKR1;pOV-2 Coenzyme A synthase;bifunctional coenzyme A synthase;bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase;nucleotide binding protein;phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase APPROVED protein-coding ENSG00000068120 29932 13080 609855 VALIDATED 1312123 COG1 component of oligomeric golgi complex 1 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 67772261 67787792 + 68700768 68716241 + 71189173 71204646 + 1580863;6480464;7240710 15047703;11980916;19008299;16857184;16020545;15489334;14702039;12477932;11929878;10718198;9927668;15561718;22939629;21139048;21906983;21963094;20301507;22505724 9382 E9PBL8;J3KRP4;J3KSY3;J3QKY9;J3QLT5;Q8WTW3 AB037802;ABBA01028870;ABBA01028871;ABBA01028872;AC097641;AK025633;AK098224;AL359611;AMYH01008618;BC021985;BC047465;BI667005;CH471099;NG_008971;NM_018714 AAH21985;AAH47465;ABM87028;BAA92619;BAG53597;CAB94881;EAW89113;EAW89114;NP_061184;Q8WTW3 Hs.103555 1666808;1788664;2159354;2173733 A004R48;RH18160;RH66230;SHGC-52397 CDG2G;DKFZp762L1710;KIAA1381;LDLB COG complex subunit 1;conserved oligomeric Golgi complex protein 1;conserved oligomeric Golgi complex subunit 1;low density lipoprotein receptor defect B complementing APPROVED protein-coding ENSG00000166685 6545 07371 606973;611209 REVIEWED 1312615 COG2 component of oligomeric golgi complex 2 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] 1 1 1 q42.2 204044170 204095755 + 228844881 228896351 + 230778202 230829731 + 1580863;6480464 15047703;7962052;19105203;19023099;17975119;17274799;16406524;15489334;12477932;11980916;11929878;7750094;22939629;21987572;21139048;21890473;21906983;22318606 22796 B1ALW7;B7Z2Y2;B7Z7N2;F5H1E5;Q14746 ABBA01033026;AK295251;AK302288;AK302791;AK312678;AL158214;AL832190;AMYH01001814;BC014960;BC051906;CD366946;CH471098;DB449302;DC349417;NM_001145036;NM_007357;S77362;Z34975 AAH14960;AAH51906;ABM83170;ABM86371;ABW03786;BAG35559;BAH12018;BAH13668;BAH13805;CAA84427;EAW69915;EAW69916;NP_001138508;NP_031383;Q14746 Hs.211800 1650964;1677248;1680445;1691866;1694882;1772745;1789028;1851778;2127338;2129569;2167265;2219056;5019046 AL033986;COG2__4608;G43535;G44322;G65647;RH36600;RH69588;RH70983;RH80403;RH94014;SHGC-35435;SHGC-76075;WI-18298 LDLC COG complex subunit 2;OTTHUMP00000035875;OTTHUMP00000035876;brefeldin A-sensitive, peripheral Golgi protein;conserved oligomeric Golgi complex protein 2;conserved oligomeric Golgi complex subunit 2;low density lipoprotein receptor defect C complementing;low density lipoprotein receptor defect C-complementing protein APPROVED protein-coding ENSG00000135775 6546 07372 606974 REVIEWED 1312059 COG3 component of oligomeric golgi complex 3 This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011] 13 13 13 q14.13 27093707 27165437 + 44937072 45008761 + 46039030 46110833 + 1580863;6480464 15057823;11929878;16420527;11980916;11292827;15047703;15489334;12665801;12477932;10562277;10512869;9110174;8619474;8125298;19536132;22863883;22939629;18029348 83548 Q8TE06;Q96JB2 ABBA01050976;ABBA01050977;AF111707;AF131829;AF332595;AF349676;AK026305;AK026994;AK074374;AK225466;AK225952;AK294959;AK304248;AK314387;AL139326;AL606514;AMYH01005091;AMYH01005092;BC038953;BP396616;BX648211;CH471075;DC307455;NM_031431 AAH38953;AAK06848;AAK66974;AAM12423;BAG37012;BAG58033;BAG65115;EAX08741;EAX08742;EAX08743;NP_113619;Q96JB2 Hs.507948 1738375;1757855;1847503;1847505;2175542 A005X38;D13S507E;G20579;HSC2DD082;SHGC-146697 SEC34 COG complex subunit 3;OTTHUMP00000018352;conserved oligomeric Golgi complex subunit 3;p94;tethering factor SEC34;vesicle-docking protein SEC34 homolog APPROVED protein-coding ENSG00000136152 18619 08443 606975 REVIEWED 1344926 COILP1 coilin pseudogene 1 14 14 14 q21.1 19718117 19720725 - 38923386 38926180 - 39853724 39856332 - 317784 ABBA01061553;AL157791;AMYH01005685;NG_002476 1744513 GDB:511566 COILP coilin pseudogene pseudo 19927 INFERRED 1605760 COILP2 coilin pseudogene 2 4 4 4 q27-q28 121327428 121329783 + 124164245 124166795 + 123944889 123947245 + 494447 ABBA01044746;AC109357;AMYH01014496;NG_004786 COILP-2 pseudo 25389 INFERRED 1346233 COG6 component of oligomeric golgi complex 6 This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] 13 13 13 q14.11 21282474 21418517 + 39127814 39224633 + 40229764 40365802 + 1580863;6480464 15047703;18369459;17331980;17220172;16051600;16020545;12477932;11980916;11929878;11703943;10574461;8889548;22939629;21807881;19651599;21078624;22883088;23057818;22797925 57511 F5GX38;F5GX76;F5H8M2;H0YGX8;Q9Y2V7 AB032960;ABBA01021305;ABBA01021306;ABBA01021307;ABBA01021308;ABBA01021309;ABBA01021310;AF116827;AK026638;AK294443;AK310953;AL512505;AL596306;AMYH01005050;BC027469;BC051723;BU675177;CH471075;CR627406;DC317375;NG_028352;NM_001145079;NM_020751;NR_026745 AAD29633;AAH51723;BAA86448;BAG57684;CAH10495;EAX08618;EAX08619;EAX08620;NP_001138551;NP_065802;Q9Y2V7 Hs.507805 1689598;1697388;1730722;1736370;1771917;1782820;1782824;1851986;1856110;2132006;5094979;7189371;7189375 COG6;D13S29;D13S872E;RH102193;RH44817;RH45178;RH92694;SHGC-111500;SHGC-112073;STS-N20848;STS-N25970 CDG2L;COD2;DKFZp313D191;KIAA1134;SHNS COG complex subunit 6;OTTHUMP00000018297;OTTHUMP00000018298;OTTHUMP00000018299;complexed with Dor1p 2;conserved oligomeric Golgi complex protein 6;conserved oligomeric Golgi complex subunit 6 APPROVED protein-coding ENSG00000133103 18621 08445 606977;614576;615328 REVIEWED 1321515 COG4 component of oligomeric golgi complex 4 The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] 16 16 16 q22.1 54970686 55013821 + 69071973 69114958 - 70514472 70557457 - 1580863;6480464;7240710 15047703;16344560;15489334;15342556;14759258;14702039;12477932;11980916;11929878;11703943;21145461;20936779;19494034;19536132;19651599;22939629;21963094;23383273;21900206;21890473;21906983;21628590;20301507 25839 E9PRT5;H3BMV9;H3BQB2;H3BSD2;J3KNI1;J3KRB5;J3QLW1;Q8N8L9;Q9H9E3 AB088369;ABBA01010657;ABBA01010658;ABBA01010659;ABBA01010660;ABBA01010661;AC106804;AK022874;AK026435;AK096557;AK293235;AK297557;AL050101;AMYH01007784;AU125729;BC000796;BC006306;BC013347;BC027726;BC072438;BC128144;BC128145;BP282697;BX648010;CH471241;NG_027529;NM_001195139;NM_015386 AAH00796;AAH06306;AAH13347;AAH27726;AAH72438;AAI28145;AAI28146;BAB14286;BAB15483;BAC04816;BAC05682;BAG56773;BAG59950;CAB43272;EAW51806;EAW51807;EAW51808;EAW51809;EAW51810;EAW51811;EAW51812;EAW51813;NP_001182068;NP_056201;Q9H9E3 Hs.208680 1667964;1667966;1676614;1686596;1736588;1764219;1778491;2136450;2218402 COG4_4609;D16S2583E;D16S2587E;RH64922;RH64977;SHGC-147852;SHGC-33776;STS-T86956;STS-T95317 CDG2J;COD1;DKFZp586E1519 COG complex subunit 4;OTTHUMP00000158637;complexed with Dor1p;conserved oligomeric Golgi complex protein 4;conserved oligomeric Golgi complex subunit 4 APPROVED protein-coding ENSG00000103051 18620 08444 606976;613489 REVIEWED 1319696 COG5 component of oligomeric golgi complex 5 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011] 7 7 q31 106630227 106991721 - 106842189 107204959 - 1580863;6480464;7240710 20112360;22615457;15047703;9792665;11980916;18353293;17356545;16344560;16051600;16020545;14702039;12853948;12477932;11929878;10782044;20804914;18029348;21068099;20936779;19690088;22863883;22939629;23383273;20360068;21903422;20301507;21139048;21890473;21906983;22318606 10466 Q9UP83 AACC02000004;ABBA01057907;ABBA01057908;ABBA01057909;ABBA01057910;ABBA01057911;ABBA01057912;AC002381;AC004492;AC004855;AF058718;AK022835;AK123726;AK126275;AK314270;AMYH01017830;AU117533;BC068540;BF979561;BI545441;BI597200;CH236947;CH471070;DB165152;NG_028095;NM_001161520;NM_006348;NM_181733 AAB63816;AAC69276;AAC83406;AAH68540;ADR82754;BAG51122;EAL24392;EAL24393;EAW83395;EAW83396;EAW83397;NP_001154992;NP_006339;NP_859422;Q9UP83 Hs.239631 1335383;1339082;1655213;1660240;1660944;1760003;1771215;1775026;1789290;1797620;1851334;1855666;1858427;2115816;2116592;2120692;2128489;2132223;2136721;2136999;2142198;2156176;2185448;2189511;7186067 D7S1409;D7S1556;D7S1919;D7S2420;D7S2693;D7S496;G36374;G36375;G36376;G36377;G36379;G67880;G73140;GDB:1317192;GDB:1317530;GDB:1318342;GPR22_2242;RH12237;RH16458;SGC34252;SHGC-105100;STS-N63962;WI-16200;WI-17975 CDG2I;FLJ41732;FLJ44289;GOLTC1;GTC90 13S Golgi transport complex 90 kDa subunit;13S golgi transport complex 1 90 kDa subunit;COG complex subunit 5;GTC-90;OTTHUMP00000025513;OTTHUMP00000212361;OTTHUMP00000212362;conserved oligomeric Golgi complex protein 5;conserved oligomeric Golgi complex subunit 5;golgi transport complex 1 APPROVED protein-coding ENSG00000164597 14857 08436 606821;613612 REVIEWED 1343549 COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 6 6 p21.32 34625938 34629189 - 33071470 33074921 - 394214 ABBA01038137;AL645931;AL662824;AL845446;AMYH01016240;BX120009;CR759795;CR759904;CR847849;CT009497;NG_007926 1756461 SHGC-143467 COL11A2P;cD0826Q1.1 APPROVED pseudo 13947 INFERRED 1316049 COG8 component of oligomeric golgi complex 8 This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 53877064 53888066 - 67920025 67931014 - 69362524 69373526 - 1580863;6480464;7240710 15047703;11703943;18353293;17331980;17220172;15489334;14702039;12477932;11980916;11929878;11181995;11149922;8125298;22939629;21963094;21805148;21906983;20301507;20685960;22505724 84342 H3BQV3;H3BSH5;J3QRV3;Q96MW5 ABBA01025526;ABBA01025527;AC026464;AK025968;AK056344;AK225391;AK302605;AMYH01007767;BC017492;BC063831;BC121022;BC121023;CH471092;DC374379;NG_009013;NM_032382 AAH17492;AAI21023;AAI21024;BAB15301;BAB71157;BAG63854;EAW83266;EAW83267;EAW83269;NP_115758;Q96MW5 Hs.130849 1662087;1689793;1757525 RH48796;SHGC-144957;SHGC-34961 CDG2H;DOR1;FLJ22315 COG complex subunit 8;OTTHUMP00000174890;conserved oligomeric Golgi complex subunit 8;conserved oligomeric golgi complex component 8;dependent on RIC1 APPROVED protein-coding 18623 07374 606979;611182 REVIEWED 1349178 COG7 component of oligomeric golgi complex 7 The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010] 16 16 p12.2 23307449 23372000 - 23399814 23464512 - 1600879;1580863;6480464;7240710 15107842 21319273;15047703;16420527;16510524;11980916;17356545;16051600;15489334;15342556;14702039;12975309;12477932;11929878;9110174;8619474;19536132;19577670;22863883;22939629;20360068;21903422;21139048;21906983;20301507 91949 I3L2R8;I3L337;P83436 ABBA01017817;ABBA01017818;AC008915;AF070568;AK093989;AK130714;AMYH01007381;AMYH01007382;AY358632;BC000549;BC037563;BP308365;CH471145;DB444997;NG_021287;NM_153603;R54036 AAH00549;AAH37563;AAQ88995;BAC85411;BAG52793;EAW55830;EAW55831;EAW55832;NP_705831;P83436 Hs.185807 1684080;1686594;1765037;2178818;2218404 COG7_4611;RH66656;RH70312;RH94293;SHGC-148582 CDG2E COG complex subunit 7;OTTHUMP00000120040;conserved oligomeric Golgi complex subunit 7 APPROVED protein-coding ENSG00000168434 18622 07373 606978;608779 REVIEWED 735281 COL10A1 collagen, type X, alpha 1 This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008] 6 6 q21-q22 116546778 116553989 - 116440085 116447296 - 1600880;1580863;6480464;6484113;7240710 8004099 21360259;21447328;8554571;19180518;19116917;18553549;17335825;17072841;17009260;16806867;16598786;15880705;15695517;15464363;14574404;12554676;12477932;11839302;11805116;11115494;10991694;10436013;9852679;9837818;9525992;9101290;9067753;9049979;8986632;8782043;8304336;8220429;8012364;7876225;7749409;7607655;2037056;1764025;1743401;1587271;1397333;1397263;20073986;18759285;20872587;20225218;20569194;21665990;22894674;22015197;23455636 1300 Q03692;Q5QPC7;Q5QPC8 ABBA01026047;AL121963;AMYH01016616;BC130621;BC130623;BI521533;CA447328;CH471051;M74050;NG_008032;NG_021351;NM_000493;S68531;S73619;X58879;X60382;X65120;X72578;X72579;X72580;X98568 AAA61221;AAB31113;AAC60615;AAI30622;AAI30624;CAA41686;CAA42933;CAA46236;CAA51170;CAA67178;EAW48240;NP_000484;Q03692 Hs.520339 1644253;1662185;1743933;1743935;1791754;1794718;1795588;2186234;7185137 COL10A1__1174;GDB:376245;GDB:376260;PMC123659P1;PMC351321P2;RH46866;SHGC-35770;STS-X60382 OTTHUMP00000017049;OTTHUMP00000017050;OTTHUMP00000017051;Schmid metaphyseal chondrodysplasia;collagen X, alpha-1 polypeptide;collagen alpha-1(X) chain;collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia);procollagen, type x, alpha 1 APPROVED protein-coding ENSG00000123500 2185 00357 120110;156500 REVIEWED 735624 COIL coilin The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008] 17 17 q22 52370559 52393410 - 55015560 55038411 - 1580863;6480464 12757932;7971277;18677100;18391951;18322647;17461797;17088425;17081983;16964243;16713569;16565220;16219678;16079131;15862129;15635413;15489334;15302935;12679382;12482916;12477932;12361597;11792806;11790298;11641277;11302690;11102515;10751146;9679133;9644758;9513048;9013710;7860074;7829101;22878415;7679389;7490287;2033369;20546612;16687569;17577209;18439907;19435804;19997741;22586326;20449600;20875822;21832049;22939629;20360068;21289084;21991343;19471022;21070772;21139048;21693764;21890473;21906983;22178446;22558428;21963094;23274112;23064547;23383273;22053931;22797925;22986342 8161 I3L369;P38432 ABBA01041309;ABBA01041310;AC004584;AK313616;AMYH01008498;AW021880;BC010385;CH471109;M58411;NM_004645;U06632 AAA36412;AAB81550;AAH10385;ABM83853;ABM87175;BAG36378;EAW94522;NP_004636;P38432 Hs.532795 1744509;1775780;2119501;5115188;5126094;5128199 D17S1672;GDB:511422;RH16172;RH17979;SGC30276;SHGC-132087 CLN80;p80-coilin coilin;coilin p80;p80 APPROVED protein-coding ENSG00000121058 2184 02605 600272 REVIEWED 735396 COL11A1 collagen, type XI, alpha 1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] 1 1 p21 103114611 103346640 - 103342023 103574052 - 1600881;1580863;6480464;6484113;6907045;7240710 9529347 3182841;10486316;10889003;8872475;10573014;19337631;19180518;18280717;18203646;18040076;17999364;17236192;17016581;16344560;15922184;15286167;12805369;12673280;12477932;11780999;11709013;11707154;9659900;8388073;7814404;1690726;7721876;7560887;3220479;2591970;19913121;20628086;20634891;20672350;18464913;19306436;19351187;19723327;19949890;20083228;20301479;20416094;20433912;20513134;21035103;21527992;22499343;22660580;22189268;22322826;23505305;22922875;23497244;22504420;22510797;21668896 1301 C9JMN2;H7C381;Q59HB5;Q9UIT6 AB208844;ABBA01045414;ABBA01045415;ABBA01045416;ABBA01045417;ABBA01045418;AC093150;AC099567;AF017809;AF101112;AK299025;AL627203;AMYH01000833;AMYH01000834;AMYH01000835;AU118365;AY705366;AY705367;AY705368;AY705369;AY705370;AY744914;AY870934;AY870935;AY870936;AY870937;AY870938;AY870939;AY870940;AY870941;AY870942;BC117697;BU159588;BX476821;CA448616;CH471097;DQ097164;J04177;L38956;NG_008033;NM_001190709;NM_001854;NM_080629;NM_080630;U12139 AAA51891;AAA79171;AAF04724;AAF04725;AAF04726;AAI17698;AAN86608;AAU88421;AAW47652;AAW47653;AAW47654;AAW47655;AAW47656;AAW65382;AAW65383;AAW65384;AAW65385;AAW65386;AAW65387;AAW65388;AAW65389;AAW65390;AAZ06348;BAD92081;BAG61102;EAW72908;EAW72909;EAW72910;EAW72911;EAW72912;EAW72913;NP_001177638;NP_001845;NP_542196;NP_542197;P12107 Hs.523446 1687660;1691816;1693012;2118393;2119494;2139553;2150562;2153080;2164273 AL033959;AL034233;Cda1db02;D1S3215;RH98519;SHGC-35204;SHGC-75227;SHGC-75242;WI-15584 CO11A1;COLL6;STL2 OTTHUMP00000012567;OTTHUMP00000218241;collagen XI, alpha-1 polypeptide;collagen alpha-1(XI) chain;procollagen, type xi, alpha 1 APPROVED protein-coding ENSG00000060718 2186 00375 120280;154780;228520;603932;604841 REVIEWED 1321941 COL15A1 collagen, type XV, alpha 1 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] 9 9 q21-q22 100745959 100872889 + 101706138 101833068 + 1580863;6480464;6484113 9651385;19365806;18203317;18171981;17355226;15164053;14702039;11937714;11068203;10891348;10791950;10049780;9176399;8929352;8307960;8106446;1427836;1279671;22034088;19834535;20932905;19322201;15698950;18549324;20040604;21963094;22531369;23621901 1306 P39059 ABBA01042904;ABBA01042905;AF261108;AK095885;AK308438;AL136084;AL354923;AMYH01021565;BX337171;CH471105;D21230;DB452324;HY016428;L01697;L25280;L25281;L25282;L25283;L25284;L25285;L25286;NM_001855 AAA58429;AAC78500;AAI57095;BAA04762;BAG53159;EAW58899;EAW58900;EAW58901;EAW58902;EAW58903;EAW58904;NP_001846;P39059 Hs.409034 1334604;1716141;1725295;1753901;1765439;1772743;1855736;2121102;2126749;2218406;7187437 A003P31;COL15A1_538;D9S1092;D9S2019;D9S272;RH118965;RH121036;RH79095;SHGC-108127;SHGC-148925 FLJ38566 OTTHUMP00000021782;collagen XV, alpha-1 polypeptide;collagen alpha-1(XV) chain;collagen type XV proteoglycan;endostatin-XV;restin APPROVED protein-coding ENSG00000204291 2192 00380 120325 REVIEWED 1350403 COL11A2 collagen, type XI, alpha 2 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009] 6 6 p21.3 33238447 33268223 - 33130469 33160245 - 1600883;1580863;6480464;6484113;6907045;7240710 10677296 7859284;8838804;9188673;16033917;19204726;19180518;18830248;18469698;18381781;18309376;18040076;17471097;16734381;16609882;16133074;15922184;15558753;14574404;12673280;12554743;12477932;11780999;11341341;11289713;10581026;9805126;9585596;9506662;9106521;9101290;8663204;8325374;7836472;7721876;7560887;7559422;2760050;2591970;18193043;19615732;19851445;19913121;20618517;20628086;20634891;20672350;21204229;21293383;22112025;21900206;22808956;22246659;20301479;20301607;22796475 1302 A2AAS7;A2APY2;B0UXE9;B0UXF0;B0UXF1;H0Y3B3;H0Y3B5;H0Y3M9;H0YHM5;H0YHM9;H0YIS1;Q4VXY6;Q5SUI8;Q6ZNN4 ABBA01038137;AK130938;AL031228;AL645940;AL662824;AL844527;AL845446;AMYH01016241;BC053886;BX248309;CH471081;CR354565;CR759733;CR936877;J04974;L18987;NG_011589;NM_001163771;NM_080679;NM_080680;NM_080681;U32169;U41065;U41067;U41068;U41069 AAA35498;AAA52034;AAC17464;AAC17465;AAC50213;AAC50214;AAC50215;AAH53886;BAC85467;CAA20240;CAI95623;CAI95624;EAX03676;EAX03677;EAX03678;NP_001157243;NP_542410;NP_542411;NP_542412;P13942 Hs.390171 1774365;1798114;1851301;2127833;2146148;2149697;2217174 COL11A2_536.2;G10518;RH46226;RH69971;RXRB_2036;SHGC-35646;SHGC-56505 DFNA13;DFNB53;FBCG2;HKE5;PARP;STL3 OTTHUMP00000029040;OTTHUMP00000178607;collagen alpha-2(XI) chain;pro-a2 chain of collagen type XI APPROVED protein-coding ENSG00000204248 2187 00376;09049 120290;184840;215150;277610;601868;609706;614524 REVIEWED 1607090 COL13A1 collagen, type XIII, alpha 1 This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] 10 10 q22 71231650 71388909 + 71561644 71718904 + 6480464;6484113 11956183;10865988;2459707;9624150;16368877;15146197;12832406;10713152;10429945;8246446;3547403;2767682;1894651;1698771;1447210;1447209;20708005;12477932;16341674;16385451;19851296;20198315 1305 E7ES46;E7ES47;E7ES49;E7ES50;E7ES51;E7ES55;E7ES56;E7EX21;E9PEG9;G5E987;H7BYT9;H7BZB6;Q13996 ABBA01019610;ABBA01019611;ABBA01019612;AC024601;AC025426;AF071009;AI741175;AJ293624;AK124476;AL138925;AMYH01002809;BC136385;BC139913;BM744248;BY796799;CH471083;CN297094;M15524;M20795;M20796;M20797;M20798;M20799;M20800;M20801;M20802;M20803;M20804;M20805;M33653;M59217;M69008;NM_001130103;NM_080798;NM_080800;NM_080801;NM_080802;NM_080805 AAA51685;AAA51987;AAA51988;AAA51989;AAA51990;AAA51991;AAA52047;AAA52048;AAA52754;AAD48082;AAI36386;CAC00688;EAW54333;EAW54334;EAW54335;EAW54336;EAW54337;EAW54338;EAW54339;EAW54340;EAW54341;EAW54342;EAW54343;EAW54344;EAW54345;EAW54346;EAW54347;EAW54348;EAW54349;EAW54350;EAW54351;EAW54352;EAW54353;EAW54354;EAW54355;EAW54356;EAW54357;EAW54358;EAW54359;EAW54360;EAW54361;EAW54362;EAW54363;EAW54364;EAW54365;EAW54366;EAW54367;EAW54368;EAW54369;EAW54370;NP_001123575;NP_542988;NP_542990;NP_542991;NP_542992;NP_542995;Q5TAT6 Hs.695934 1341122;1674347;1730996;1731022;1731032;1742225;1757183;1797418;2153989;5126088 COL13A1_2653;D10S1648;D10S2293;D10S264;D10S336;D10S451;GDB:193858;RH78936;SHGC-144605;SHGC-35303 COLXIIIA1;FLJ42485 OTTHUMP00000019731;OTTHUMP00000019732;OTTHUMP00000019733;OTTHUMP00000227633;OTTHUMP00000227634;OTTHUMP00000227635;OTTHUMP00000227636;OTTHUMP00000227637;collagen alpha-1(XIII) chain APPROVED protein-coding ENSG00000197467 2190 00383 120350 REVIEWED 6766705 COL18A1-AS2 COL18A1 antisense RNA 2 21 46827301 46829980 - 100874236 ABBA01074197;AMYH01012312;BX322562;BX322563;NR_052004 Hs.589901 APPROVED miscrna ENSG00000224574 40155 VALIDATED 1322191 COL16A1 collagen, type XVI, alpha 1 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008] 1 1 p35-p34 31890435 31942355 - 32117848 32169768 - 1580863;6480464;6484113 19931388;16754661;15165854;1284248;16710414;12782140;12477932;9022684;7882999;7836360;1631157;22716248;19913121;20628086;18804107;17549794;21251976 1307 A6NCT7;A6NDR9;H7BY97;H7BZL8;H7C3F0;Q07092 AB209571;ABBA01023454;AC114488;AF370368;AMYH01000460;BC064839;CH471059;M92642;NM_001856;R54778;S57132;X14963;X15038 AAA58427;AAB25797;AAI67814;AAQ15204;BAD92808;CAA33085;CAA33142;EAX07595;EAX07596;EAX07597;NP_001847;Q07092 Hs.368921 1658788;1658959;1781756;1795592;2118250;2148651;5020300 COL16A1_1437;G15937;RH69199;SHGC-155471;SHGC-35321;STS-M92642;STS-W96115 447AA;FP1572 OTTHUMP00000003955;alpha 1 type XVI collagen;collagen XVI, alpha-1 polypeptide;collagen alpha-1(XVI) chain APPROVED protein-coding ENSG00000084636 2193 00381 120326 REVIEWED 735743 COL12A1 collagen, type XII, alpha 1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 q12-q13 75850762 75972343 - 75794042 75915623 - 1580863;6480464;6484113 1427837;3476925;16344560;16284948;15609093;15342556;14702039;12890494;12477932;12045897;11697796;10066359;9826181;9344363;9143499;9129225;8207089;2668306;17960519;19648885;20453000;19443461;21139048;22573329;23013106;22969073 1303 D6RGG3;H0Y4P7;H0Y5N9;H0Y991;Q99715 ABBA01040354;ABBA01040355;ABBA01040356;AF061871;AI752603;AJ420501;AK057081;AK307558;AL080250;AL096771;AL354664;AMYH01016437;BC034715;BC050587;BC146868;BP286308;CH471051;DA661773;NM_004370;NM_080645;U68139;U73778;U73779 AAC01506;AAC51244;AAC83578;AAD40483;AAH50587;AAI46869;EAW48748;EAW48749;EAW48750;NP_004361;NP_542376;Q99715 Hs.101302 1653335;1674260;1707982;1750219;1777944;1795590;2123963;2159532;2184521 COL12A1_1592;D6S1478;RH47329;RH48075;SHGC-112458;SHGC-33702;SHGC-84655;STS-U73778;STS-W72891 BA209D8.1;COL12A1L;DJ234P15.1 OTTHUMP00000016752;OTTHUMP00000016753;OTTHUMP00000219428;OTTHUMP00000219466;collagen alpha-1(XII) chain;collagen type XII proteoglycan;collagen, type XII, alpha 1-like;procollagen, type xii, alpha 1 APPROVED protein-coding ENSG00000111799 2188 00377;00378 120320 REVIEWED 1322425 COL17A1 collagen, type XVII, alpha 1 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] 10 10 q24.3 105781036 105835628 - 105791046 105845638 - 1600884;6480464;6484113;7240710 7550320 9012408;19422829;19158842;18992722;18571472;18055190;17920818;17657247;17555727;17545155;17443672;16899459;16580182;16487966;16417243;16387484;16354180;16117787;15734283;15609083;15489334;15164054;15161638;15081423;15047704;15009107;14987253;14962097;14962091;14562173;12482924;12477932;12421765;12356719;11912005;11739652;11514543;10951237;10756096;10671979;10652291;10637308;10577906;10321838;10022517;9740252;9665393;9660880;9521878;9500991;9457913;9204958;9199555;9087447;9038345;8669466;8662839;7916703;2045679;1748679;1324962;21305504;19340010;19812601;19834535;19945617;20089696;20379614;10811835;12802069;14668477;16385451;16757171;22775995;20471095;21348951;22688676;21034821;21357940;23337823;21906983;21801871;20301304;20301481;22457199 1308 A2A2Y8;H0Y420;Q9UMD9 ABBA01063087;AF136185;AF136186;AK309940;AL138761;AMYH01003033;AU076442;BC004478;CH471066;D63465;M63730;M91669;NG_007069;NM_000494;U76564;U76565;U76566;U76567;U76568;U76569;U76570;U76571;U76572;U76573;U76574;U76575;U76576;U76577;U76578;U76579;U76580;U76581;U76582;U76583;U76584;U76585;U76586;U76587;U76588;U76589;U76590;U76591;U76592;U76593;U76604 AAA35605;AAA51839;AAB51499;AAH04478;AAI68368;EAW49612;EAW49613;EAW49614;NP_000485;Q9UMD9 Hs.117938;Hs.732773 1654353;1660726;1797420 COL17A1_2511;RH71257;STS-AA034033 BA16H23.2;BP180;BPA-2;BPAG2;FLJ60881;KIAA0204;LAD-1 180 kDa bullous pemphigoid antigen 2;OTTHUMP00000020422;OTTHUMP00000020424;alpha 1 type XVII collagen;bA16H23.2 (collagen, type XVII, alpha 1 (BP180));bullous pemphigoid antigen 2 (180kD);collagen XVII, alpha-1 polypeptide;collagen alpha-1(XVII) chain APPROVED protein-coding ENSG00000065618 2194 00223 113811;226650 REVIEWED 1314064 COL14A1 collagen, type XIV, alpha 1 This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013] 8 8 q23 121206533 121453454 + 121137352 121384273 + 1580863;6480464;6484113 1716629;2187872;9427527;17960519;16421571;16129687;15609093;15489334;15146197;15065570;14702039;12477932;10646805;10393435;9252349;9092299;8986622;8756762;8135774;7842743;20379614;19136672;21139048;22573329;21832049;22972947 7373 H0YBB2;J3QT75;J3QT83;Q4G0W3;Q9UDF6 ABBA01037833;ABBA01037834;ABBA01037835;ABBA01037836;AC020603;AC090736;AC107877;AK021997;AK293080;AK307716;AK311498;AMYH01018991;AMYH01018992;AMYH01018993;AMYH01018994;BC014640;BC036192;BC083495;BC140893;BQ717750;BX472674;CH471060;CN261527;M64108;M64109;NG_033107;NM_021110;Y11709;Y11710;Y11711 AAA36794;AAA36795;AAH14640;AAH36192;AAH83495;AAI40894;BAF85769;CAA72401;CAA72402;CAA72403;EAW91998;EAW91999;EAW92000;EAW92001;EAW92002;NP_066933;Q05707 Hs.409662 1336341;1654740;2116351;2217176 COL14A1_3311;D8S586;RH66839;WI-18017 UND OTTHUMP00000194886;OTTHUMP00000194889;collagen alpha-1(XIV) chain;collagen, type xiv, alpha 1 (undulin);undulin (fibronectin-tenascin-related) APPROVED protein-coding ENSG00000187955 2191 00379 120324 REVIEWED 1346873 COL1AR collagen, type I, alpha, receptor 2840666 1279 2199 120340 736032 COL18A1 collagen, type XVIII, alpha 1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 21 21 q22.3 45649525 45758062 + 46825097 46933634 + 1600910;1600887;1600901;1600885;1600906;632362;70690;1580863;6480464;6484113;7240710 11353854;17011522;16437622;12415512;15739185;11592600;10766159 22431315;9008168;10942434;19622587;19431146;19390655;19127216;19084038;19074676;18818971;18676680;18478248;18382662;18381814;18360823;18345385;18054814;18029348;18006826;17653045;17587451;17546652;17544408;17526870;17482599;17067672;17011029;16998835;16866623;16807676;16793908;16466644;16358965;16320826;16025479;15985216;15950618;15735323;15694132;15662127;15605080;15540202;15489334;15464359;15374730;15334690;15328173;15296943;15148373;15146197;15014038;14973128;14760864;14732364;14702039;14695535;14614989;14519482;14514474;12857600;12839947;12693719;12682293;12581742;12486154;12479859;12477932;12458056;12408231;12237301;12231538;12209593;12174873;12029087;12023034;11937714;11911017;11815623;11781696;11700031;11606364;11517600;11336704;11158588;10830953;10716919;10544250;9724722;9503365;8776601;8188291;8183893;21963851;19615205;16008891;19160445;19170196;19223770;19542224;19585274;19625176;19631658;19692168;19877579;19961619;20027339;20063989;20156196;20346360;20361288;20396759;20819778;20562859;20616167;22819906;21085708;21193414;21233699;21486700;21527992;19298526;21896479;21457400;21815140;22303445;21771176;21968021;22009965;22461898;22745009;22733742;16269408;17615292 80781 D3DSM4;D3DSM5;H7BXV5;H7C457;Q96T70 ABBA01074197;ABBA01074198;ABBA01074199;ABBA01074200;ABBA01074201;ABBA01074202;AF018081;AF018082;AF184060;AF333246;AF333247;AF416592;AK098216;AK130835;AL163302;AMYH01012312;AMYH01012313;AMYH01012314;AMYH01012315;AMYH01012316;AMYH01012317;AY484971;BC033715;BC063833;BX322561;BX322562;BX322563;CH471079;CN389577;L22548;NG_011903;NM_030582;NM_130445 AAA51864;AAC39658;AAC39659;AAF01310;AAH33715;AAH63833;AAK50626;AAL37720;AAR83296;AAR83297;AAR83298;CAB90482;EAX09338;EAX09339;EAX09340;EAX09341;EAX09342;EAX09343;EAX09344;NP_085059;NP_569712;P39060 Hs.517356 1656073;1672188;1675317;1701690;1790617;1790661;1790663;1797422;5014053 COL18A1_540.2;D1S3693;RH98711;SHGC-12530;SHGC-8080;SHGC-87711;STS_CEB248;STS_CEB286;STS_CEB287 FLJ27325;FLJ34914;KNO;KNO1;KS;MGC74745 OTTHUMP00000115472;OTTHUMP00000115473;antiangiogenic agent;collagen alpha-1(XVIII) chain;endostatin;multi-functional protein MFP APPROVED protein-coding ENSG00000182871 2195 00382 120328;267750 REVIEWED 1350562 COL18A1-AS1 COL18A1 antisense RNA 1 21 21 21 q22.3 31950394 31955748 - 45664059 45669413 - 46839631 46844985 - 15489334;14702039;12477932;20494980;22745009 378832 ABBA01074197;AK096071;AMYH01012313;BC111539;BC111540;BX322563;CH471079;NG_011903;NR_027498;NR_028082 AAI11540;AAI11541;BAC04694;EAX09345 Hs.517353 C21orf123;MGC129884;MGC129885;NCRNA00175;PRED80 APPROVED miscrna ENSG00000183535 23132 10736 VALIDATED 1318965 COL19A1 collagen, type XIX, alpha 1 This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] 6 6 q12-q13 70633169 70978878 + 70576448 70922157 + 1580863;6480464 1639419;7775380;9143499;18845531;15489334;15383545;14574404;12788917;12477932;9344653;9202028;8889548;8034603;7916703;20379614;20339536;21145461;23382691 1310 Q5JVU1;Q9H572 AB004629;ABBA01008892;ABBA01008893;ABBA01008894;ABBA01040263;ABBA01040264;ABBA01040265;ABBA01040266;ABBA01040267;AK310621;AL118519;AL133388;AL136445;AL160262;AL359539;AMYH01016412;AMYH01016413;AMYH01016414;AMYH01016415;BC070177;BC113362;BC113364;CF144008;CH471051;D38163;D38466;L12347;M63597;NM_001858;U09279 AAA21146;AAA36358;AAA58468;AAI13363;AAI13365;BAA07368;BAA07488;BAA07489;BAA23309;EAW48828;EAW48829;EAW48830;NP_001849;Q14993 Hs.444842 1334694;1337798;1646053;1675634;1687726;1704176;1722219;1723973;1724661;1751377;1755165;1797424;2118927;2134564;2187300 COL19A1_1952;D6S1718;D6S1844;D6S254;G60014;RH118936;RH121331;RH46622;RH46832;RH46933;RH80759;SHGC-105233;SHGC-12963;SHGC-142087;SHGC-79803 COL9A1L;D6S228E OTTHUMP00000016695;OTTHUMP00000016696;a1 chain of type XIX collagen;collagen XIX, alpha-1 polypeptide;collagen alpha 1 (Y) chain;collagen alpha-1(XIX) chain;collagen alpha-1(Y) chain 1643257 BW136_H APPROVED protein-coding 2196 00364 120165 REVIEWED 734049 COL1A1 collagen, type I, alpha 1 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] 17 17 q21.33 45616456 45633999 - 48261457 48279000 - 734802;734801;734803;1580863;1601595;2292195;5131854;5688302;5688298;6480464;5688331;5688333;5688339;5688293;5688297;5688305;5688341;5688300;5688295;5688336;5688332;5688296;5688304;5688335;5688330;5688301;5688299;5688306;5688337;6484113;6907045;7240710 9448299;8432871;9295084;16009107;12641779;15469929;20456365;15727634;10743824;7700025;20818932;19180518;15994869;17187661;20660018;22153773;18694864;1697606;7723234;17309652;17939044;1670041;9811048;21354048;15081423;15880349;21769867 21462477;15781005;15728585;15638371;15592793;15581348;15570400;15552843;15514891;15514164;15489334;15466008;15365990;15256976;15241796;15241219;15227656;15211650;15133851;15106082;15085313;15049048;14734826;14722584;14672895;14643521;14633859;14613485;14595528;14562991;14528100;14506618;12879219;12868700;12810179;12803121;12787275;12753258;12735930;12660034;12590186;12584032;12575457;12491092;12477932;12393937;12358155;12232678;12211646;12200454;12185380;12180907;12164934;12149247;12138160;12127408;12107666;12101112;12099690;12096841;12073153;12072442;12069607;12034705;12034531;12016466;12016463;11973338;17211858;8900172;15095409;14976317;18375391;18553566;17489845;17118335;17557158;17576241;1715582;1939645;3872140;9295288;10778855;9028946;9280292;19527514;19506792;19465003;19453261;19429913;19387081;19358256;19341834;19306436;19299182;19260140;19259350;19255718;19206162;19193665;19193663;19172220;19145934;19143970;19110771;19082910;19071236;19019335;19016596;18996919;18925325;18836165;18818748;18787532;18704262;18703872;11907712;11874231;11867580;11856343;11847210;11792589;11731270;11716195;11685422;11683425;11668615;11566920;11547832;11547828;11508783;11432962;11420783;11383910;11368514;11359786;11316004;11311202;11303720;11283002;11230734;11204438;11173011;11143996;11136533;11122085;11090261;11085801;10772928;10739762;10627137;10446987;10408781;9878537;9733643;9675033;9659899;9639571;9600458;9443882;9239397;9169408;9143923;9101304;9101290;9016532;8988177;8841196;8786074;8723681;8669434;8552450;8468356;8456809;8456808;8364588;8349698;8349697;8339541;8223589;8100209;8097422;8094076;8019571;7982948;7961597;7945553;7881420;7852349;7691343;7679635;7520724;7499207;7034958;6689127;6462220;6320112;6292910;6183642;5529814;4319110;3857621;3857213;3722186;3667599;3571333;3490481;3480516;3403550;3340531;3264153;3244312;3178743;18681778;18670065;18669982;18669583;18644377;18634290;18619040;18580957;18551240;18550494;18536987;18412368;18401458;18379465;18361931;18353721;18323784;18311573;18306915;18298657;18226133;18089612;18069662;18028452;18024269;17991736;17950782;17903305;17889845;17876648;17875077;17766609;17698844;17554369;17551768;17392686;17332715;17331078;17303000;17276428;17273809;17252541;17201588;17187960;17179726;17140440;17135298;17100549;17028262;17021946;17019952;16988190;16934803;16911569;16869454;16864092;16835341;16831952;16815299;16804049;16723701;16713399;16705691;16622736;16580273;16540720;16521042;16498072;16475872;16458627;16410344;16407265;16278217;16272059;16263577;16173077;16171977;16159929;16102727;16009674;16001263;15966503;15965952;15952128;15950180;15805113;15794927;15788405;3170557;3108247;3082886;3016737;2981843;2913053;2857713;2843432;2822714;2794057;2777764;2767050;2745420;2511192;2470760;2468670;2374517;2339700;2318855;2295701;2211725;2169412;2156854;2116413;2037280;2036375;2035536;2010058;1995349;1988452;1953667;1939261;1895312;1874719;1870989;1787829;1770532;1737847;1730778;1718984;1693626;1634225;1613761;1511982;1468447;1460047;1409674;22190259;1377218;1339453;1303238;2745554;2446864;11752017;20543003;19913121;20087402;20435445;20571774;20628086;20673868;20721936;20730440;20736093;20798928;20133221;20140262;20181574;20489157;20961463;21033393;20651840;20704113;14749390;15101818;17460886;18682895;18709850;19418583;19491628;19558215;19635106;19655227;19675556;19714363;19718407;19734317;19751715;19789904;19813243;19890351;19893454;19913496;19929435;19932771;20015871;20061935;20063990;20146006;20146870;20237151;20301472;20369485;20379614;20444423;20452482;20509788;20532479;20191437;21095332;20406730;19595020;20045402;20463013;22249249;21111450;21113976;21215393;21647970;21134900;18380967;19031824;21042785;21085489;20724381;21341209;22130917;22990118;21713451;22694915;20235194;20359090;21178584;22987783;20693403;21602843;21702901;21746880;21336691;22576977;21777208;21344539;22057139;21302452;21405976;21558934;22054507;19861282;21029365;21343850;12524166;21139048;21970315;23341452;21834035;22210296;19322201;21935919;22337942;22855962;20301422;21311138;21535073;21667357;22139845;22219633;22297492;22379029;22565191;21564311;22679784;22489040;21764694;23068445;23199263;22422640;22367096;22434650;23207290;21963094;22829018;23159876;23006423;22939629;23040566;21163673;22479424;22645275;23344861;23013730;23079818;23137636;23314748 1277 I3L3H7;Q9UML6 AB209597;ABBA01041231;ABBA01041232;AC015909;AF017178;AK297731;AMYH01008471;BC036531;CH471109;J00110;J00111;J00112;J00113;J02829;J03559;JQ236861;K01228;K03179;M10627;M11162;M20789;M23213;M32798;M36546;M55998;NG_007400;NM_000088;S58915;S64596;X00299;X00820;X06269;X07884;Z74615 AAA51847;AAA51992;AAA51993;AAA51995;AAA52036;AAA52049;AAA52052;AAA52289;AAA52290;AAA52291;AAA60150;AAA75386;AAB26324;AAB27856;AAB59363;AAB59373;AAB94054;AAH36531;AAN86574;ABM84497;ABW03370;AFD28984;BAD92834;BAH12658;CAA25082;CAA25394;CAA29605;CAA30731;CAA98968;EAW94630;EAW94631;NP_000079;P02452 Hs.172928;Hs.681002 1660169;1728937;1741099;1741289;1741393;1788452;1794696;1795594;2125820;2167488;2182979;2189425;2191695;5015760 COL1A1_1682;Col1a1;GDB:177260;GDB:177792;GDB:180347;GDB:180975;MARC_5219-5220:996690145:1;MARC_5785-5786:991939715:3;PMC34669P1;RH45119;RH77855;SGC32927;WI-18942;fj67h06.x1 OI4 OTTHUMP00000192905;alpha-1 type I collagen;collagen alpha 1 chain type I;collagen alpha-1(I) chain;collagen alpha-1(I) chain preproprotein;collagen of skin, tendon and bone, alpha-1 chain;pro-alpha-1 collagen type 1 APPROVED protein-coding ENSG00000108821 2197 00362 114000;120150;130000;130060;166200;166210;166220;166710;259420 REVIEWED 1602872 COL20A1 collagen, type XX, alpha 1 20 20 20 q13.33 58602014 58639754 + 61394983 61432729 + 61924538 61962285 + 6480464 16189514;15489334;12477932;11780052;10819331 57642 B7ZBI4;B7ZBI5;Q9P218 AB040943;ABBA01021393;ABBA01021394;AK098702;AL121827;AL390141;AMYH01012076;AMYH01012077;BC013658;BC019637;BC041767;BC043183;CH471077;NM_020882 AAH13658;AAH19637;AAH43183;BAA96034;BAC05387;EAW75285;EAW75286;EAW75287;EAW75288;EAW75289;NP_065933;Q9P218 Hs.271285 1681070;5014053;5093244 D1S3693;G32605;RH67296 KIAA1510;bA261N11.4 OTTHUMP00000031549;OTTHUMP00000070554;collagen alpha-1(XX) chain;collagen-like protein protein-coding ENSG00000101203 14670 17215 VALIDATED 1347782 COL21A1 collagen, type XXI, alpha 1 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XXI collagen is localized to tissues containing type I collagen so, like other members of this collagen family, it may serve to maintain the integrity of the extracellular matrix. An alternatively spliced transcript variant has been described, but its full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 6 6 6 p12.3-p11.2 57582585 57774549 - 56029347 56220337 - 55921388 56112378 - 1580863;6480464 14702039;15342556;12477932;11863369;11827793;11566190;11230166;20379614 81578 A6PVD9;F5GZK2;H0Y4C9;H0YDH6;Q96P44 ABBA01050498;ABBA01050499;ABBA01050500;ABBA01050501;ABBA01050502;AF330693;AF370383;AF414088;AF438327;AK096444;AK126586;AK313398;AL031782;AL034452;AL136624;AL513530;AMYH01016366;AMYH01016367;BC045597;BC126108;BC143862;BC143863;BC143864;BC143865;BP231679;CH471081;NM_030820 AAH45597;AAI26109;AAI43866;AAL02227;AAL50033;AAL86699;AAQ15219;ACJ66843;BAG36196;BAG53292;CAB66559;EAX04448;EAX04449;EAX04450;EAX04451;EAX04452;NP_110447;Q96P44 Hs.47629 1693544;1725225;1773975;1849030;1852500;1856615;2108733;2121289;2180349;2184608 Bdy88c05;COL21A1_1435;D6S1870;D6S2015;RH118905;RH45942;RH46582;SHGC-53575;SHGC-58459;SHGC-6162 COLA1L;DKFZp564B052;FLJ39125;FLJ44623;FP633;MGC26619;dJ682J15.1;dJ708F5.1 OTTHUMP00000016651;OTTHUMP00000016652;alpha 1 chain-like collagen;alpha 1 type XXI collagen;collagen alpha-1(XXI) chain APPROVED protein-coding ENSG00000124749 17025 09884 610002 REVIEWED 730984 COL1A2 collagen, type I, alpha 2 This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] 7 7 q22.1 93861809 93898480 + 94023873 94060544 + 1581196;1581197;1581198;1581199;704404;734805;734804;1580863;704405;6480464;6484113;6907045;7240710 16816023;16705691;15077201;14739420;2993307;2567784 21443102;8982144;17211858;18375391;17217948;1740554;17334644;8841196;17955022;6267597;1715582;1939645;3872140;9295288;10778855;9028946;9280292;19559927;19527514;19426706;19424577;19282863;19208385;19180518;19035720;19015742;18996919;18818748;18791848;18664619;18644377;18570923;18434090;18323784;18298657;18284430;18093617;17903307;17884818;17875077;17653508;17620151;17407139;17146610;17142024;17072841;16864092;16849317;16702209;16564026;16316921;16285730;16278217;16192463;16091368;16036621;15983038;15982862;15917161;15818662;15788405;15741186;15609325;15599596;15581348;15516691;15514164;15489334;15389632;15365990;15345715;15241796;15211650;15149860;15085313;14555266;12968017;12879219;12813128;12759229;12702564;12477932;12424255;12393755;12200454;12160476;12101112;12034705;11986307;11867580;11836364;11668615;11359786;11311202;11143996;10772928;10734230;10722718;10627137;10408781;10329688;9878537;9675033;9443882;21665180;7852349;7749416;7720740;7693712;7688497;7520724;7346227;7034958;6687691;6501291;6321602;6309769;6092353;6087329;5529814;4412529;4011429;3857213;3680255;3490481;3421913;3403536;3372533;7881420;7860070;2914942;2897363;2839839;2824475;2777764;2454224;2394758;2375748;2364107;2156854;2129528;2064612;2052622;9239397;9101290;9016532;8889548;8829655;8829649;8800927;8723681;8552450;8468356;8456808;8456807;8444468;8401517;8182080;8125298;8094076;8081394;7959683;7945553;7906591;7891382;2010058;1284475;1990009;1895312;1874719;1730778;1711048;1693626;1642148;1577745;1468447;1409674;1385413;1377218;1362870;1358799;1339453;1303238;20301472;22379029;21341209;20087402;20628086;20673868;20721936;20736093;19913121;15862967;16289162;16463783;19289304;19395477;19491193;19565505;19578796;19679847;19705750;19714363;19790048;19929435;19932771;20102701;20452482;20466318;8900172;17459242;19594296;20837772;20463013;20140262;20961463;21044367;22130917;22990118;21530898;21602843;21746880;23079621;21344539;21405976;22028813;22049076;21139048;23227268;22773346;22131293;21667357;22449649;22610502;22674299;23036172;23398456;22815632;21163673;22796342 1278 Q9UML5 AA457209;AACC02000014;AB004317;ABBA01045783;ABBA01045784;AC002074;AC002528;AF004877;AK223175;AK226074;AK297786;AK300194;AK309504;AL833478;AMYH01017695;BC042586;BC054498;CF125721;CH236949;CH471091;J00114;J03464;K01078;K02568;L47668;M21353;M21671;M22816;M22817;M28985;M35391;M64229;NG_007405;NM_000089;S41099;S96821;S98904;V00503;X02488;X55525;Y00724;Z74616 AAA51844;AAA51846;AAA51850;AAA51887;AAA51996;AAA52050;AAA52053;AAA59994;AAA60041;AAA60356;AAB22020;AAB22126;AAB22761;AAB59374;AAB59577;AAB69977;AAB93981;AAH42586;AAH54498;AAS02025;BAA25383;BAG60128;BAG61967;CAA23761;CAA26320;CAA39142;CAA68709;CAA98969;EAW76794;EAW76795;EAW76796;NP_000080;P08123 Hs.489142 1338803;1654389;1695052;1721681;1735696;1741291;1741293;1742317;1743665;1779138;1795596;1849483;2121283;2121285;2122876;2135874;2179438;2185719;5015760;5015895;5022651;5112005;5112007;5117134;5117148;7186343 A005A20;COL1A2;COL1A2_1224;COL1A2mfd;D11S2921;D7S2150E;D7S2763;G15893;G20262;G44337;G44345;G44756;G59702;GDB:1318591;GDB:177260;GDB:180348;GDB:180350;GDB:196334;GDB:365711;GDB:366514;GDB:438113;GDB:439267;SHGC-56147;SHGC-56152;WI-11486 OI4 OTTHUMP00000192906;alpha 2(I)-collagen;alpha-2 type I collagen;collagen I, alpha-2 polypeptide;collagen alpha-2(I) chain;collagen of skin, tendon and bone, alpha-2 chain;type I procollagen APPROVED protein-coding ENSG00000164692 2198 00363 120160;130060;166210;166220;166710;225320;259420 REVIEWED 1319222 COL22A1 collagen, type XXII, alpha 1 COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 135769113 136093411 - 139669660 139995418 - 139600478 139926236 - 1580863;6480464 15016833;12477932;20222955;20379614;23508266 169044 H0YAX7;Q8NFW1 AA781676;ABBA01012667;ABBA01012668;ABBA01012669;ABBA01013644;ABBA01013645;ABBA01013646;ABBA01013647;AC068476;AC105130;AC115720;AF406780;AMYH01019056;AMYH01019057;AP006262;BC042075;BC144535;BX094632;CH471060;NM_152888 AAH42075;AAI44536;AAI72420;AAN03620;EAW92193;EAW92194;EAW92195;NP_690848;Q8NFW1 Hs.117169 1656706;1697628;1698074;1732735;1757977;1758703;1760281;1762479;1765477;1786648;1786656;1786676;1786732;1786786;2146224;2163138 D15S185;D8S1050;D8S346;L18002;RH102326;RH102569;SHGC-132810;SHGC-146301;SHGC-147020;SHGC-148961;SHGC-149203;SHGC-149386;SHGC-149623;SHGC-153336;SHGC-155040;SHGC-155762 OTTHUMP00000196069;collagen alpha-1(XXII) chain;collagen alpha-1(XXII) chain-like;collagen, type XXII, alpha 1 APPROVED protein-coding ENSG00000169436 22989 09885 610026 VALIDATED 1349074 COL24A1 collagen, type XXIV, alpha 1 1 1 1 p22.3 84439115 84866628 - 85967504 86394709 - 86194916 86622121 - 6480464 16373341;12874293;12477932;20379614;19913121;20628086 255631 E9PNK8;F8WDM8;H0YCZ7;Q17RW2 AB209686;ABBA01045623;ABBA01045624;ABBA01045625;ABBA01045626;ABBA01045627;ABBA01045628;ABBA01045629;ABBA01045630;ABBA01045631;ABBA01045632;AC099561;AC104455;AK308953;AL356059;AL359971;AL445427;AMYH01000755;AMYH01000756;AMYH01000757;AMYH01000758;AMYH01000759;AMYH01000760;AMYH01000761;AMYH01000762;AY244357;BC113654;BC116180;BC117170;BC143715;BC143717;BC143718;CH471097;NM_152890 AAI13655;AAI17171;AAP80185;BAD92923;EAW73193;NP_690850;Q17RW2 Hs.659516 1686704;1726573;1727831;1765161;1768353;1781814;1797426;1846816;2131802;2170561;2179364 AL009422;AL009471;AL010103;COL24A1_2246;D14S120;G62518;G63181;RH92641;SHGC-148676;SHGC-156139;SHGC-75097 MGC142214 OTTHUMP00000012370;collagen alpha-1(XXIV) chain protein-coding ENSG00000171502 20821 10846 610025 VALIDATED 1353219 COL23A1 collagen, type XXIII, alpha 1 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008] 5 5 5 q35.3 173291605 173645012 - 177597225 177950162 - 177664617 178017556 - 1299589;1580863;6480464 12644459 15231747;17627939;16728390;15489334;12477932;19724895;19851296;20198315;20379614;20447926;23568457;21652699;23251661 91522 Q86Y22 ABBA01009991;ABBA01009992;ABBA01009993;ABBA01009994;ABBA01009995;ABBA01009996;ABBA01009997;ABBA01009998;ABBA01009999;ABBA01010000;ABBA01010001;AC008659;AC022096;AC093290;AC136601;AL137461;AMYH01015940;AMYH01015941;AMYH01015942;AMYH01015943;AMYH01015944;AMYH01015945;AW014891;AY158895;AY898961;BC042428;CH471165;NM_173465 AAH42428;AAO18361;AAX84028;CAB70749;EAW53833;EAW53834;NP_775736;Q86Y22 Hs.660026 1341981;1698518;1713063;1750643;1764457;1764679;1778089;2111932;2129340;2169100;7186127 D5S2030;D5S2511;D5S2690;D5S2708;RH102810;RH120319;SHGC-111954;SHGC-148058;SHGC-148269;SHGC-57110 DKFZp434K0621 OTTHUMP00000161490;collagen alpha-1(XXIII) chain;procollagen, type XXIII, alpha 1 APPROVED protein-coding ENSG00000050767 22990 16733 610043 VALIDATED 1345849 COL26A1 collagen, type XXVI, alpha 1 7 7 7 q22.1 96014234 96210348 + 100792842 100989024 + 101006122 101202304 + 1580863;6480464 16713569;12477932;12221002;12145293;22760553;21086123;22217332;9847074 136227 C9JPW4;Q96A83 ABBA01011320;ABBA01011321;ABBA01011322;ABBA01011323;ABBA01011324;ABBA01011325;ABBA01011326;ABBA01011327;ABBA01011328;ABBA01011329;ABBA01011330;ABBA01011331;AC004953;AC004965;AC006329;AJ416091;AMYH01017751;AMYH01017752;BC040052;BC109254;BC110393;BI549609;BM676006;CH471197;CX163123;NM_001278563;NM_133457 AAI09255;AAI10394;CAC94778;EAW50221;EAW50222;NP_001265492;NP_597714;Q96A83 Hs.654854 1334516;1653176;1733284;1763369;2157548;2157550;2162559;2168929;2173978;7185076;7186978 D2S1301;D7S1682;D7S2085E;D7S2245;D7S2932;D7S662;GDB:1317956;GDB:1318440;SHGC-147091 EMI6;EMID2;EMU2;MGC129848;SH2B;hEmu2 EMI domain containing 2;EMI domain-containing protein 2;Emu2;OTTHUMP00000196064;OTTHUMP00000196065;alpha-1 type XXVI collagen;collagen alpha-1(XXVI) chain;collagen, type XXVI, alpha 1;emilin and multimerin domain-containing protein 2;emilin and multimerin-domain containing protein 2;putative emu2 APPROVED protein-coding ENSG00000160963 18038 16405 608927 VALIDATED 1604476 COL28A1 collagen, type XXVIII, alpha 1 COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010] 7 7 7 p21.3 7367965 7545230 - 7364769 7541985 - 7398244 7575460 - 6480464 16330543;12690205;12477932;22610502;20379614;19913121;20628086;20889312 340267 H7BZU0;H7C3P2;Q2UY09 AACC02000012;ABBA01056515;ABBA01056516;ABBA01056517;ABBA01056518;ABBA01056519;AC004982;AC006356;AC009402;AJ890451;AJ890452;AJ890453;AMYH01017056;AMYH01017057;BC063866;BC136892;BC144431;CH236948;NM_001037763 AAI36893;CAI67595;CAI67596;CAI67597;EAL24305;EAL24307;NP_001032852;Q2UY09 Hs.491104 1342287;1707764;1718449;1742191;1856742;2146679;2159359;2159440;2163197;7186697 D7S1984;D7S2553;GDB:1317600;GDB:1317716;GDB:193196;GDB:3778193;RH122425;RH36519;SHGC-82101 COL28 OTTHUMP00000196066;alpha 2 type VI collagen-like;collagen alpha-1(XXVIII) chain APPROVED protein-coding ENSG00000215018 22442 609996 VALIDATED 1603375 COL25A1 collagen, type XXV, alpha 1 This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 4 4 q25 109954421 110443248 - 109731877 110223799 - 6480464 11927537;15215182;15522881;15615705;18501477;16300410;15853808;14656069;12477932;19548013;20332099;20379614;21408207;21688384;14702039;22297151;23018867 84570 A8MWQ5;D6R8Y2;E9PNV9;H0YAE1;Q9BXS0 ABBA01063771;ABBA01063772;AC004051;AC004701;AC073427;AC095066;AC097473;AF293340;AF293341;AK095098;AMYH01014455;AMYH01014456;BC030649;BC036669;CH471057;NM_001256074;NM_032518;NM_198721;NR_045756 AAH36669;AAK35008;AAK35009;AAY40947;EAX06238;EAX06239;EAX06240;NP_001243003;NP_115907;NP_942014;Q9BXS0 Hs.658842 1339274;1340265;1644510;1647595;1652024;1653546;1668071;1681859;1686300;1695806;1700994;1712869;1753801;1774192;1850857;2109175;2115425;2120694;2130156;2147401;2156452;2162683;2169078;2173048;2175819;2175821;2180497;2181956;7185702 COL25A1_2958;D4S1178;D4S1306;D4S1571;D4S3240;D4S953;G19541;L18131;RH104124;RH120151;RH91312;RH92515;SHGC-23021;SHGC-23025;SHGC-23030;SHGC-23034;SHGC-23036;SHGC-23037;SHGC-23039;SHGC-23040;SHGC-23060;SHGC-23172;SHGC-23220;SHGC-23223;SHGC-37631;SHGC-50465;SHGC-82565;SHGC-89200 AMY;CLAC;CLAC-P;CLACP AMY;CLAC-P;OTTHUMP00000196081;OTTHUMP00000196082;OTTHUMP00000196083;OTTHUMP00000233698;alzheimer disease amyloid-associated protein;collagen alpha-1(XXV) chain;collagen-like Alzheimer amyloid plaque component;collagenous Alzheimer amyloid plaque component APPROVED protein-coding ENSG00000188517 18603 09886 610004 REVIEWED 1350673 COL27A1 collagen, type XXVII, alpha 1 Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They form major structural elements in extracellular matrices of cartilage, skin, and tendon (Boot-Handford et al., 2003 [PubMed 12766169]).[supplied by OMIM, Mar 2008] 9 9 9 q32 87566107 87720603 + 115958052 116112796 + 116918231 117072975 + 6480464 18978678;18391951;15922909;14702039;12766169;12714037;12477932;11347906;20379614;22889924;20467438;23192621 85301 H0YD40;Q5T1U7;Q8IZC6 AB058773;ABBA01042673;ABBA01042674;ABBA01042675;ABBA01042676;ABBA01042677;AK021957;AL356796;AL445543;AMYH01021672;AMYH01021673;AY149237;BC007696;BC035728;CH471090;NM_032888 AAN41263;BAB13947;BAB47499;EAW87411;EAW87412;EAW87413;EAW87414;NP_116277;Q8IZC6 Hs.494892 1706426;1757033;1760871;1761695;1761727;1764391;1775088;1779800;1787684;2167346;5022576 D1S1361;SHGC-144392;SHGC-144544;SHGC-145671;SHGC-145701;SHGC-147982;SHGC-153772;SHGC-156158;SHGC-80791;SHGC-8827;WI-22523 FLJ11895;KIAA1870;MGC11337;RP11-82I1.1 OTTHUMP00000021970;collagen alpha-1(XXVII) chain APPROVED protein-coding 22986 09767 608461 VALIDATED 6481159 COL4A2-AS1 COL4A2 antisense RNA 1 13 111154923 111160526 - 100874203 ABBA01026994;ABBA01026995;AL139385;AMYH01005376;BX482237;NR_046583 Hs.508716 APPROVED miscrna ENSG00000232814 40156 VALIDATED 5132556 COL4A2-AS2 COL4A2 antisense RNA 2 (non-protein coding) 13 13 13 q34 91955176 91961617 - 109906587 109913635 - 111109000 111115441 - 100129836 A2A353 AK130129;AL159153;XR_078658;XR_078799 BAC85294;CAM15931 Hs.640035 uncharacterized protein LOC100129836 protein-coding 39849 734037 COL2A1 collagen, type II, alpha 1 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] 12 12 q13.11 46653015 46684552 - 48366748 48398285 - 704404;704421;6480464;6484113;6907045;7240710 10853827 8660302;2587267;8900172;7550321;1429602;16752401;10486316;19430638;19387081;19180518;19019890;18978274;18799084;18655132;18636947;18553548;18523590;18512791;18383211;18288556;18276201;18177466;18065760;18040638;18023161;17994563;17721977;17683641;17653045;17580305;17568421;17509551;17437277;17394019;17335825;17195216;17163530;17009260;16978902;16877351;16650379;16395149;16329077;16192646;16133074;16088915;16076844;16001263;15930420;15922184;15895462;15731776;15671297;15643621;15522781;15489334;15466413;15316962;15179599;15102076;15082485;15054848;14729840;14644246;14299791;12939326;12935820;12732631;12713737;12637574;12544472;12511349;12477932;12429250;12429249;12393877;12360016;12223098;12205109;12200454;12186868;12096843;12011698;11973338;11847210;11812423;11746045;11724554;11716775;11708863;11705992;11447232;11445564;11406351;11368302;11292829;11007540;10982970;10797431;10772239;10745044;10729292;10706362;10678662;10406661;10382266;10196235;10085302;9811967;9800905;9711874;9685393;9659900;9468540;9409248;9354468;9334230;9101290;9066888;9061001;8948452;8863156;8778019;8737653;8723098;8723097;8723096;8609233;8529631;8507190;8486375;8423604;8406454;8325895;8317498;8244341;8024616;8019561;7981752;7977371;7874117;7847372;7829510;7757086;7757081;7699294;7520045;7487609;6320112;3997552;3857598;3840017;3800925;3571333;3021582;3011107;3004202;3002437;2987845;2825137;2803268;2753125;2745554;2714801;2572591;2543071;2446864;2355003;2339128;2300123;2229073;2081599;2059554;2010058;1999183;1985108;1975693;1971141;1905723;1677770;1637314;1621990;1556676;1544908;1444917;1439770;1397263;1374906;12847218;11121411;19913121;20628086;20634891;20672350;21442341;20179744;17217840;22574936;15101818;15713743;19433093;19473573;19756630;19764028;19790048;19814628;20131279;20529846;20592578;21088911;20569194;20204389;21204228;22791362;21044884;22495950;21924244;22241609;22689318;22750747;22863613;21655647;21777803;22711552;22049074;21843649;21853276;21940677;20301479;22068351;21993774;21221577;22319617;22189268;21853455;22496037;12485997;21988832;23331625;22965811;21332586 1280 Q96IT5 ABBA01031473;AC004801;AL834148;AMYH01004428;BC007252;BC116449;BT007205;CH471111;CS025620;J00116;L10347;M23759;M25698;M25728;M25730;M27468;M37126;M60299;M63281;NG_008072;NM_001844;NM_033150;S76829;U15195;X00339;X02371;X02375;X02376;X02377;X02378;X03320;X06268;X13783;X16158;X16468;X16711;X57010;X58709 AAA51997;AAA52037;AAA52038;AAA52039;AAA52051;AAA58428;AAA73873;AAB60370;AAC41772;AAD14239;AAD15286;AAD15287;AAH07252;AAI16450;AAP35869;CAA25092;CAA26223;CAA26224;CAA26225;CAA26226;CAA26227;CAA27041;CAA29604;CAA32030;CAA34278;CAA34279;CAA34280;CAA34281;CAA34282;CAA34283;CAA34284;CAA34488;CAA34683;CAA40330;CAI46208;CAI61687;EAW57966;EAW57967;EAW57968;EAW57969;EAW57970;NP_001835;NP_149162;P02458 Hs.408182 1336551;1341346;1644906;1704120;1741089;1741091;1741093;1741295;1741347;1744525;1745633;1791143;2143557;2191499;5015760;5016508;5117542;5117544;5117546;5117548;5117550;5117552;5117554;5117556;5491495 COL2A1;D12S1663;D12S2021;D12S85;GDB:177260;GDB:177726;GDB:177727;GDB:177728;GDB:180356;GDB:180743;GDB:512193;GDB:577655;GDB:577659;GDB:577662;GDB:577664;GDB:577666;GDB:578728;GDB:578731;GDB:578732;GDB:578733;GDB:626695;MARC_15881-15882:1015249633:1;MARC_24087-24088:1040064543:1;RH68551;SHGC-79734 ANFH;AOM;COL11A3;MGC131516;SEDC OTTHUMP00000195063;OTTHUMP00000195071;alpha-1 type II collagen;cartilage collagen;chondrocalcin;collagen II, alpha-1 polypeptide;collagen alpha-1(II) chain APPROVED protein-coding ENSG00000139219 2200 00361 108300;120140;132450;150600;151210;156550;183900;184250;200610;215150;271700;604864;608805;609162;609508 REVIEWED 1317652 COL4A2 collagen, type IV, alpha 2 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] 13 13 q34 109757632 109963375 + 110959631 111165374 + 1580863;6480464;6907045 8317999;10625665;2846280;3345760;18706356;18050191;17557121;17554254;17216253;16368877;15743801;15522229;15489334;15231748;15146197;15057823;12477932;12180907;12021518;12011424;11867580;11711546;11683410;11259413;10926178;10416788;10382266;9878537;9673377;9506531;9409248;9334230;9136074;8995276;8006028;7827955;7500359;6988303;6811420;6389236;3997552;3692475;3582677;3198637;3182844;3089234;3025878;2844531;2439508;2426947;2211625;1724753;1377218;7495302;19913121;20628086;20673868;12878203;19481338;20067797;20080650;20201926;20452482;20889312;20805453;16712791;21378990;21527998;21900206;21942715;22209246;22209247;17339318;22144573;22333902 1284 A2A352;P08572 ABBA01026994;ABBA01026995;ABBA01026996;ABBA01026997;ABBA01026998;AF258350;AF400430;AK025912;AK294920;AL139385;AL159153;AL161773;AMYH01005376;AY450357;AY455978;BC016166;BC035559;BC080644;BX648393;BY795218;CB045156;CB148713;CH471085;CK000715;CN397790;CN397808;CN397819;J02760;J04217;M24766;M36963;NG_032137;NM_001846;X05562;X05610;X12784 AAA52043;AAA53097;AAA53099;AAA58422;AAF72631;AAH80644;AAK92479;AAR18250;AAR20245;BAG58004;CAA29076;CAA29098;CAA31275;EAX09111;EAX09112;NP_001837;P08572 Hs.508716 1705132;1762127;1797428;2135357;2154699;2155218;2164201;2167580;2169880;2169882 A005X39;COL4A2_2599;G19261;G20580;RH1614;RH46595;RH78290;SHGC-146027;SHGC-79998;STS-W87433 DKFZp686I14213;FLJ22259;ICH;POREN2 OTTHUMP00000018700;canstatin;collagen alpha-2(IV) chain APPROVED protein-coding ENSG00000134871 2203 00355 120090;614483;614519 REVIEWED 737225 COL3A1 collagen, type III, alpha 1 This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] 2 2 q31 189547344 189585717 + 189839099 189877472 + 1300381;1300382;1580863;6480464;6484113;6907045;7240710 10706896;2349939 7487954;9036918;9573018;14970208;8900172;2839553;16754721;16912226;2981879;7546986;6295694;1672129;9076960;16360482;14736764;1466622;17576241;19398442;19180518;19152942;19056482;19019335;19000145;18818748;18805790;18722615;18642782;18521510;18401458;18389341;18089612;17396208;17146610;16838047;16681691;16521042;16356540;16289162;16259598;16088212;16043429;15944607;15894390;15838180;15815621;15514164;15489334;15365990;15342556;15227656;15193836;14702039;14633859;12880417;12786757;12694234;12631068;12477932;12358155;12149201;12140670;12105202;11973338;11827452;11577371;11566270;11311202;11168790;10923041;10819545;10051163;9659900;9659899;9284930;9147870;9101290;9050868;8990011;8884076;8680408;8664902;8514866;8411057;8320698;8317500;8255472;8098182;8019562;7912131;7833919;7749417;7016180;6246925;6096827;3858826;3754462;3571333;3405773;3357782;3211760;2834369;2808425;2780304;2777083;2764886;2745554;2579949;2492273;2446864;2365710;2235526;2145268;1979060;1939638;1895316;1757960;1496983;1409674;1370809;1357232;1352273;687591;557335;19913121;20628086;20673868;15101818;19389097;19398000;19424605;19444361;19527514;19578796;19639654;19764567;19790048;19858036;19893454;19932771;20063990;20452482;20631730;20704113;21145461;20140262;20301667;20699621;20720362;20648054;20039537;21044884;21086191;22836729;21558934;20227120;21822266;21637106;21343850;22266860;21858035;21946467;22019127;23013106;22001912;22238662;22019950;21941774;22241462;22573319;20301456;22851868;23040566;23344861 1281 E7ENY8;H7C435;Q6LDJ2 ABBA01062370;ABBA01062371;AC066694;AI755052;AK091853;AK308010;AMYH01011343;AY016295;AY054301;BC028178;BP374999;CH471058;M10795;M10797;M10798;M10799;M11134;M13146;M26939;M59227;M59312;NG_007404;NM_000090;S62925;S79877;X01655;X01742;X06700;X07240;X14420;X15332 AAA51999;AAA52000;AAA52001;AAA52002;AAA52003;AAA52004;AAA52040;AAA52041;AAB35615;AAB59383;AAD13937;AAH28178;AAL13167;AAY24164;CAA25821;CAA25878;CAA25879;CAA29886;CAA30229;CAA32583;CAA33387;EAX10909;EAX10910;EAX10911;NP_000081;P02461 Hs.443625 1680833;1712571;1741135;1741175;1741399;1741479;1788780;1795598;2113912;2183453;2191473;5022008;5106694;5119669;5119677;5122733;5492043 COL3A1;COL3A1-379;COL3A1-95;COL3A1_428;D2S2587;GDB:178182;GDB:178183;GDB:178411;GDB:178412;GDB:180981;GDB:181238;MARC_23660-23661:1029504961:1;RH134399;RH69964;RH99230;WI-16343;X57983 EDS4A;FLJ34534 Ehlers-Danlos syndrome type IV, autosomal dominant;OTTHUMP00000163485;alpha1 (III) collagen;collagen alpha-1(III) chain;collagen, fetal APPROVED protein-coding ENSG00000168542 2201 00365 120180;130020;130050 REVIEWED 1313332 COL4A4 collagen, type IV, alpha 4 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] 2 2 q35-q37 227575671 227737519 - 227867427 228029275 - 1580863;6480464;6484113;6907045;7242047;7240710;7242048 19357112;19129241 8253711;2211832;7523402;19109975;18930919;18661361;17942953;17396119;17216251;16970251;16953426;16895672;16338941;16235097;15954103;15880327;15280517;14507670;12768082;12631110;12325029;12225806;12180907;12028435;11867580;11711546;11683410;10416788;10382266;9878537;9792860;9673377;9537506;9506531;9409248;9195222;9136074;8995276;8787673;8365481;8006028;7987396;7962065;7827955;7500359;6988303;6811420;6389236;3997552;3089234;2426947;2318822;1724753;1639407;1429714;7495302;20664914;20673868;12477932;12878203;19675380;20029656;20237496;20379614;20452482;22723992;20972266;20301386;22610502 1286 J3KNM7;P53420 AA831056;AB008496;ABBA01050186;ABBA01050187;AC073149;AC079235;AF218541;AMYH01011539;BC065843;BX094848;CH471063;D17391;L01475;L01476;NG_011592;NM_000092;X81053;Y17397 AAY14670;AAY24061;BAA04214;BAA25065;CAA56943;CAA76763;EAW70845;EAW70846;EAW70847;NP_000083;P53420 Hs.591645 1664361;1724565;1726631;2108735;2114550;2168540;2171972 COL4A4_544.2;G62550;RH122542;RH70415;SHGC-33680;WI-18252;WI-7328 CA44 Collagen IV, alpha-4 polypeptide;OTTHUMP00000195046;collagen alpha-4(IV) chain;collagen of basement membrane, alpha-4 chain APPROVED protein-coding ENSG00000081052 2206 00360 120131;203780 REVIEWED 1343126 COL5A1-AS1 COL5A1 antisense RNA 1 q34.3 414316 Q5SY13 AI798815;AL591890;CR748640 Q5SY13 Hs.571561 C9orf104;bA54A22.4 COL5A1 antisense RNA 1;COL5A1 antisense RNA 1 (non-protein coding);chromosome 9 open reading frame 104 APPROVED miscrna 31368 1351504 COL4A5 collagen, type IV, alpha 5 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] X X q22 107569810 107827431 + 107683074 107940775 + 1600687;1580863;6480464;6484113;6907045;7240710 2349482 12021518;21143337;19281745;19065523;18930919;18706356;18616531;18083113;17554254;17396119;17294221;17277342;16941480;16940319;16613845;16507901;16284948;15954103;15780079;15583824;15365990;15211113;15149316;14993485;14592452;14531812;14514738;12796257;12732331;12478350;12477932;12218303;12180907;12105244;11462238;11223851;11961405;11711546;11198602;11051113;11004279;10862091;10684360;10563487;10561141;10416788;10382266;10094548;9878537;9673377;9506531;9452056;9195222;9150741;9136074;8940267;8829632;8651296;8651292;8406498;8356449;8301933;8120014;8081393;8006028;7853788;7599631;7500359;6988303;6811420;6389236;6386565;3997552;2426947;2380186;2339699;2004755;1724753;1689491;1672282;1377218;1376965;1363780;1352287;7495302;21380622;19913121;20628086;20673868;12878203;16169070;19610672;19728970;19919694;19965530;20378821;20452482;20574986;20881942;21187648;21848006;20951201;22919268;23085274;16344560;21942715;8889548;21900206;19322201;20301386;21332469;22335431 1287 A7MBN3;H0Y998;H0Y9H0;H0Y9R8;P29400;Q49AM6 ABBA01036008;ABBA01036009;ABBA01036010;ABBA01036011;ABBA01036012;ABBA01036013;ABBA01036014;ABBA01036015;ABBA01036016;ABBA01036017;ABBA01036018;ABBA01036019;ABBA01036020;ABBA01036021;ABBA01036022;ABBA01036023;ABBA01036024;ABBA01036025;ABBA01036026;ABBA01036027;ABBA01036028;ABBA01036029;ABBA01036030;ABBA01036031;ABBA01036032;ABBA01036033;ABBA01036034;ABBA01036035;ABBA01036036;ABBA01036037;ABBA01036038;ABBA01036039;ABBA01036040;ABBA01036041;ABBA01036042;AF199451;AF199452;AK294066;AK307900;AL031622;AL034369;AL035425;AL136364;AMYH01022835;BC035387;BC151846;BU688037;BX641049;CH471120;DA461056;M31115;M58526;M63473;M90464;NG_011977;NM_000495;NM_033380;S59334;S69168;S71779;S75903;U04470;U04520;Z37153 AAA51558;AAA52045;AAA52046;AAA99480;AAB31853;AAB33374;AAC27816;AAC60612;AAD13909;AAF66217;AAH35387;AAI51847;BAG57411;CAA85512;EAX02683;EAX02684;EAX02685;EAX02686;NP_000486;NP_203699;P29400 Hs.369089 1701692;1701876;1701882;1701910;1702114;1702364;1702448;1702668;1742383;1744227;1791037;1791039;1791043;1791045;1791047;1795602;2137655;2138610;2143981;2145335;2175925;2178252 AF020129;BKT38;BKT39;BKT40;BKT41;BKT42;COL4A5;COL4A5_1596;COL4A6;DXS137;DXS6802;DXS7815;DXS7886;DXS7887;G10713;GDB:192502;GDB:196581;GDB:438123;GDB:600958;RH45245;SHGC-36895;WI-7137 ASLN;ATS;CA54;DKFZp686G1497;MGC167109;MGC42377 OTTHUMP00000023838;OTTHUMP00000217926;OTTHUMP00000217927;collagen IV, alpha-5 polypeptide;collagen alpha-5(IV) chain;collagen of basement membrane, alpha-5 chain;dA149D17.3;dA24A23.1 APPROVED protein-coding ENSG00000188153 2207 02363 301050;303630 REVIEWED 736518 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] 2 2 q36-q37 227737525 227887751 + 228029281 228179508 + 1600924;1600928;1580863;6480464;6484113;7240710;7242047 7987301;11158397;19357112 21143337;12682293;10766752;10212244;10837460;7987396;18941198;18930919;18772132;18661361;18499662;18439107;18436078;18385178;17942953;17726307;17426256;17396119;17294221;17216251;16953426;16940319;16895672;16877525;16235097;15954103;15880327;15815621;15492988;15280517;15199166;14871398;14633133;14507670;12768082;12225806;12193605;12180907;12028435;11961012;11867580;11711546;11683410;11134255;10416788;10382266;9878537;9673377;9537506;9506531;9409248;9278443;9136074;8995276;8505332;8294492;8083201;8016138;8006044;8006028;7827955;7758473;7500359;6988303;6811420;6389236;3997552;3089234;3025878;2426947;1882840;1737849;1724753;1400291;1377218;7495302;14676276;22939955;23108892;20664914;20673868;11337467;12107413;12878203;19786737;20029656;20201926;20237496;20452482;8889548;20177710;19688274;23297803;23620401;22473740;17370265;21942715;22118674;17339318;20301386;21854504;22461538;23085731;23291589;23319000 1285 H7BXM4;Q9UDL0 AB008496;ABBA01050185;ABBA01050186;AC079235;AC097662;AC107069;AF218541;AF258351;AJ288487;AJ288534;AJ288535;AJ288536;AJ288537;AJ288538;AMYH01011539;AMYH01011540;AU099354;BM670570;BM712932;CD675393;CH471063;EU268882;L08650;M81379;M92993;NG_011591;NM_000091;S55790;U02519;U02520;X80031 AAA18942;AAA18943;AAA21610;AAA51556;AAA52044;AAB19637;AAF63713;AAF72632;AAI56139;AAX93111;AAY14671;AAY24251;ABX71213;BAA25064;CAA56335;CAC36101;EAW70848;EAW70849;EAW70850;EAW70851;EAW70852;EAW70853;EAW70854;EAW70855;EAW70856;EAW70857;NP_000082;Q01955 Hs.570065 1336351;1651189;1684652;1784146;1852851;1857065;2145124;5022143;5120343;5493925 COL4A3;D2S2158;D2S2555;G10620;G18012;GDB:304589;RH79227;RH92131;SHGC-154740;SHGC-9488 OTTHUMP00000203997;collagen IV, alpha-3 polypeptide;collagen alpha-3(IV) chain;tumstatin APPROVED protein-coding ENSG00000169031 2204 00354 104200;120070;141200;203780 REVIEWED 736080 COL5A3 collagen, type V, alpha 3 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] 19 19 p13.2 9931237 9982147 - 10070237 10121147 - 6480464;6907045 10722718;1571108;15316020;15136578;11423559;9443080;8535602;7346227;7115902;6501291;1916105;19012342 50509 P25940;Q59GD4 AB209175;ABBA01029956;ABBA01029957;AC008742;AF177941;AMYH01009465;AMYH01009466;BQ006883;CH471106;NM_015719 AAF59902;BAD92412;EAW84061;NP_056534;P25940 Hs.235368 1747795;1761601;1795608;2170581 COL5A3_310;G66875;SHGC-145596;STS-W80440 OTTHUMP00000195993;collagen alpha-3(V) chain;pro-(alpha)3(V) collagen APPROVED protein-coding ENSG00000080573 14864 00369 120216 REVIEWED 1316170 COL4A1 collagen, type IV, alpha 1 This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] 13 13 q34 109599311 109757497 - 110801310 110959496 - 1581204;1581205;1580863;2311342;2311340;2311341;6480464;6484113;6907045;7240710 16598045;16374828;17582205;19466391;18077766 16481288;16151532;16107487;15905400;15583824;15489334;15467744;15146197;15081423;15057823;12574156;12524166;12477932;12180907;12011424;11994000;11970952;11867580;11776869;11711546;10811134;10416788;10382266;9878537;9673377;9506531;9409248;9334230;9169408;9136074;8995276;8889548;8662978;8317999;8006028;7827955;7500359;6988303;6811420;6434307;6389236;6386565;4043082;3997552;3714485;3691802;3311751;3182844;2987919;2891465;2846280;2844531;2701944;2582422;2581969;2506015;2426947;2211625;2186699;1724753;1377218;14718574;19194877;18775695;18669583;18560403;18160688;18061419;18050191;17938367;17696175;17216253;16631378;7495302;3571333;2446864;9733643;12847218;12812986;19913121;20506163;20628086;20673868;15203218;20166936;20558831;12878203;14732718;19422682;19477666;19506372;19840616;19851296;19893454;19948975;19949034;20031579;20067797;20083228;20198315;20379614;20385946;20452482;8900172;20818663;21378990;21357838;21157337;22932948;23225343;22784784;21527998;21625620;21500141;21794054;21942715;22209247;23227231;22253229;21139048;22395516;22574627;22134833;22522439;22144573;17339318;22876576;20301768;22573493;22931710;23065703;23394911;22868088;22919069;23251661 1282 F5H5K0;P02462 AB209646;ABBA01026998;ABBA01026999;ABBA01027000;AF258349;AF363672;AF400431;AF536207;AL161773;AL390755;AMYH01005375;AMYH01005376;AY285780;BC047305;BC142626;BC151220;BU677787;CD613007;CH471085;CN256264;DQ464183;EU260121;J04217;M10940;M10941;M11315;M26576;M36963;NG_011544;NM_001845;X03963;X05561;X12784;Y00706 AAA52006;AAA52042;AAA53098;AAF72630;AAH47305;AAI42627;AAI51221;AAK53382;AAK92480;AAM97359;AAP43112;ABE73157;ABX47006;BAD92883;CAA29075;CAA31276;CAA68698;EAX09108;EAX09109;NP_001836;P02462 Hs.17441 1657078;1673918;1763643;1771404;1774103;1776994;1795600;1856502;2145122;2166223;2177418;5092732 073WE5;A005V07;COL4A1__1176;D12S2121;D13S1440;D13S1449;D13S148;G32294;SHGC-147331;SHGC-52407;WI-14843;WI-16856 HANAC;ICH;POREN1;arresten COL4A1 NC1 domain;OTTHUMP00000018698;OTTHUMP00000194462;collagen IV, alpha-1 polypeptide;collagen alpha-1(IV) chain;collagen of basement membrane, alpha-1 chain;collagen type IV alpha 1 APPROVED protein-coding ENSG00000187498 2202 00359 120130;175780;607595;611773;614519 REVIEWED 1319300 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q13.3 74710821 74843196 - 74666928 74807806 - 1580863;6480464 22396542;10212244;11007769;18772132;18411267;18216317;18184806;18165232;17916599;17591919;17442665;17081983;16970251;16895911;16571669;16338941;16218959;16189514;15976441;15917228;15596449;15489334;14702039;14685229;12477932;10027952;22226883;22472120;19005213;19197348;19494524;19615732;20036255;20177069;21285358;20875392;22863883;22869376;18029348;21832087;21909260;21731489;21707482;21906983;22129459 10087 H0Y9J1;Q9H2S8 AB036934;AB036936;ABBA01061944;ABBA01061945;AC008897;AC112183;AC116341;AF136450;AF232930;AF232935;AK000604;AK091851;AK096854;AK292087;AMYH01015409;AY453385;AY453386;BC000102;CH471084;CQ855842;CQ855844;NG_029492;NM_001130105;NM_005713;NM_031361 AAD30288;AAG42046;AAG42051;AAH00102;AAR26717;AAR26718;BAB58974;BAB58977;BAC03762;BAF84776;BAG53379;CAH23431;CAH23432;EAW95757;EAW95758;EAW95759;EAW95760;EAW95761;NP_001123577;NP_005704;NP_112729;Q9Y5P4 Hs.270437 1674091;1690348;2169988 D5S2440;RH80548;SHGC-36269 CERT;CERTL;FLJ20597;GPBP;STARD11 Goodpasture antigen-binding protein;OTTHUMP00000128247;OTTHUMP00000128248;OTTHUMP00000128249;OTTHUMP00000222113;START domain containing 11;START domain-containing protein 11;StAR-related lipid transfer (START) domain containing 11;ceramide transfer protein;ceramide transporter;collagen type IV alpha-3-binding protein;hCERT;lipid-transfer protein CERTL;stAR-related lipid transfer protein 11 APPROVED protein-coding ENSG00000113163 2205 05246 604677 REVIEWED 1343037 COL4A6 collagen, type IV, alpha 6 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] X X q22 107285493 107569360 - 107398837 107682704 - 1580863;6480464;6484113;6907045;7240710 12180907;8125972;18474427;18074349;17955302;16507901;15772651;15679046;15211113;15146197;14592452;12477932;10737800;10416788;10382266;9878537;9673377;9506531;9136074;8661006;8356449;8175748;8006028;7972123;7592929;7500359;6988303;6811420;6389236;6386565;3997552;2426947;1724753;1377218;11711546;19913121;20628086;20673868;12878203;18782525;19422682;20452482;21380622;21832049;20359090;20951201;21942715 1288 A8MXH5;B4DZ39;F5H3Q5;F5H851;Q9BS57;Q9UMG6 ABBA01035980;ABBA01035981;ABBA01035982;ABBA01035983;ABBA01035984;ABBA01035985;ABBA01035986;ABBA01035987;ABBA01035988;ABBA01035989;ABBA01035990;ABBA01035991;ABBA01035992;ABBA01035993;ABBA01035994;ABBA01035995;ABBA01035996;ABBA01035997;ABBA01035998;ABBA01035999;ABBA01036000;ABBA01036001;ABBA01036002;ABBA01036003;ABBA01036004;ABBA01036005;ABBA01036006;ABBA01036007;ABBA01036008;AK300502;AL031177;AL034369;AL109943;AL136080;AMYH01022835;BC000874;BC005305;BC070203;BC140855;BC144669;BF726518;BQ331638;BT007228;CB050016;CH471120;CN313347;D21337;D28116;D63562;EU182215;L22763;NG_012059;NM_001847;NM_033641;U04845;U47004 AAA16338;AAA19569;AAB19038;AAB19039;AAH05305;AAH70203;AAI40856;AAI44670;AAP35892;ABW24668;BAA04809;BAA09791;BAG62216;EAX02687;EAX02688;NP_001838;NP_378667;Q14031 Hs.145586 1339721;1649966;1659614;1663383;1694108;1701846;1701882;1702632;1702646;1702668;1702764;1702802;1702922;1703000;1745807;1745809;1772111;1791041;1795604;2129228;7184808 AL022444;AL035141;BKT4;COL4A6;COL4A6_546;DXS571;DXS6797;DXS7494;DXS7789;DXS7820;DXS7883;DXS7884;DXS7885;DXS8216;DXS8343;GDB:600958;GDB:642198;GDB:642212;UniSTS:99664;WI-18796 CXDELq22.3;DELXq22.3;MGC88184 OTTHUMP00000023834;OTTHUMP00000023835;collagen IV, alpha-6 polypeptide;collagen alpha 6 type IV;collagen alpha-6(IV) chain;collagen of basement membrane, alpha-6;dJ889N15.4 (Collagen Alpha 6(IV)) APPROVED protein-coding ENSG00000197565 2208 02364 303631;308940 REVIEWED 3051197 COL6A4P2 collagen, type VI, alpha 4 pseudogene 2 This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq, Jun 2009] 3 3 3 q22.1 128360006 128420288 + 131445831 131468974 + 129931663 129992649 + 19486942;15146197;18400749;22952603 646300 ABBA01059204;ABBA01059205;ABBA01059206;ABBA01059207;AC093004;AC112646;AC130888;AMYH01013487;BF593933;CN285077;DR731426;DV080502;EG328528;NR_027898 Hs.170475 1679932;1708164;1756531;1784888;5023075 RH92350;SHGC-143562;SHGC-70163;SHGC-79329;ha2998 COL6A4 APPROVED pseudo 38501 PROVISIONAL 1601707 COL6A5 collagen, type VI, alpha 5 This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 3 3 3 q22.1 128491730 128631031 + 131633446 131686380 + 130064359 130203688 + 6480464 18400749;18276594;17850181;14702039;20649719;21353297;18839421;19961619;20379614;20882040;22118674;22226732 256076 B5MEA7;E9PAL5;F8W8G8;H0Y393;H0Y935;H0Y9T2 ABBA01059203;ABBA01059204;AC093004;AC117398;AI743837;AK093199;AK123718;AM906078;AM906079;AM906080;AM906081;AM906082;AM906083;AM906084;AMYH01013488;CH471052;EU085556;NG_021424;NM_001278298;NM_153264;NR_022012 A8TX70;ABW81241;BAC04092;BAC85681;CAP19997;CAP19998;CAP19999;CAP20000;CAP20001;CAP20002;CAP20003;EAW79224;NP_001265227;NP_694996 Hs.205403 COL29A1;FLJ35880;VWA4 OTTHUMP00000216291;collagen alpha-5(VI) chain;collagen, type XXIX, alpha 1;von Willebrand factor A domain-containing protein 4 APPROVED protein-coding ENSG00000172752 26674 08196 611916 REVIEWED 3052729 COL6A6 collagen, type VI, alpha 6 3 3 3 q22.1 128706262 128821161 + 131761868 131878578 + 130279178 130395888 + 6907045 16641997;18276594;18400749;20882040;21406227;22226732 131873 A6NMZ7;F8W6Y7;H0Y940;H0YA33 ABBA01059200;ABBA01059201;ABBA01059202;ABBA01059203;AC093006;AC117398;AC128683;AL713792;AM774225;AM774226;AM774227;AMYH01013488;AMYH01013489;AMYH01013490;AMYH01013491;NM_001102608 A6NMZ7;CAH10639;CAO81739;CAO81740;CAO81741;NP_001096078 Hs.591282 1704164;2114928 SHGC-79789;STS-N22964 OTTHUMP00000216111;collagen alpha-6(VI) chain protein-coding ENSG00000206384 27023 PROVISIONAL 733435 COL5A1 collagen, type V, alpha 1 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 9 9 q34.2-q34.3 136673473 136876510 + 137533652 137736689 + 1581210;1581211;1581212;734808;1580863;6480464;6484113;6907045;7240710 12145749;11278977;10777716;8752669 2203476;14970208;9099729;18305566;15095409;9683580;16430677;16431952;19422640;19180518;19019335;18972565;18818748;18487259;18443036;18353721;17965778;17407447;15164053;15136578;14702039;14504037;12477932;11741999;10796876;10722718;10602121;9840442;9582436;9501082;9042913;8575750;8181482;7646438;7346227;6693501;6501291;2496661;2071595;1722213;1572660;1571108;3571333;2446864;2745554;12847218;19042922;19913121;20628086;20673868;20719862;20798666;20834067;20625483;20140262;11751872;19426620;19527514;19654427;20359947;20452482;8440685;8900172;20635400;21215393;20847697;21362053;23493294;21697718;22132895;21609763;22586326;22814818;22437311;21139048;21906983;22208904;21934170;20301422;23060441;23513063;15146197;16712791;1937076;19632402;19696512;19956930;20456365;20543949;20979576;21098505;21328072;21467034;21541907;21611149;22149965;22762739;23291589 1289 H7BY82;P20908;Q59EE7 AB209864;AB371583;ABBA01030006;ABBA01030007;ABBA01030008;ABBA01030009;ABBA01030010;ABBA01030011;ABBA01030012;ABBA01030013;ABBA01030014;ABBA01030015;AI190929;AK057231;AK122763;AK127662;AL591890;AL603650;AL645768;AMYH01021827;AMYH01021828;BC008760;BC032405;BM051019;CA446007;CB152831;CH471090;CN399198;CN399221;CN399265;CN484933;D90279;ES314363;L38808;NG_008030;NM_000093;NM_001278074 AAA79853;AAH08760;BAA14323;BAD93101;BAG48312;EAW88128;EAW88129;EAW88130;EAW88131;EAW88132;NP_000084;NP_001265003;P20908 Hs.210283 1673645;1677945;1687301;1689562;1697034;1758291;1760535;1767514;1854672;2219060;5014023;5037552;5094258 COL5A1_2419;D13S1553;D8S2279;G54670;RH101994;RH45344;RH70027;RH70759;RH75751;RH76754;RH93484;SHGC-143900;SHGC-147947 OTTHUMP00000022513;alpha 1 type V collagen;collagen alpha-1(V) chain APPROVED protein-coding ENSG00000130635 2209 00368 120215;130000;130010 REVIEWED 736788 COL5A2 collagen, type V, alpha 2 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] 2 2 q14-q32 189604886 189752850 - 189896641 190044605 - 734809;1600694;1580863;6480464;6484113;6907045;7240710 9425231;16431952 2584236;9783710;19180518;19019335;18818748;15815621;15489334;15136578;14557872;12477932;12145749;11940702;11741999;11566270;10777716;9659900;9550630;8660106;8181482;3858826;3224983;3029669;2985598;2914927;2411731;1820205;1571108;20625483;19913121;20628086;20673868;17666000;19527514;20379614;20452482;20140262;20648054;20847697;22132895;22208904;20301422 1290 Q96QB0 AB209045;ABBA01062373;ABBA01062374;ABBA01062375;ABBA01062376;ABBA01062377;AC064833;AC133106;AK297936;AK300146;AL552427;AMYH01011343;AY016288;AY016295;BC015705;BC043613;BC086874;CH471058;J03051;J04478;M10956;M11135;M11718;M31365;M58529;NG_011799;NM_000393;X04758;Y14690 AAA51857;AAA51858;AAA51859;AAA52007;AAA52058;AAC41699;AAH43613;AAH86874;AAL13165;AAL13166;AAY24185;BAD92282;BAG60252;BAG61932;CAA28454;CAA75002;EAX10906;EAX10907;EAX10908;NP_000384;P05997 Hs.445827 1649384;1651279;1670810;1690820;1717631;1741481;1768036;1773493;1784180;1795606;2120316 COL5A2_1241;D2S2062;D2S2590;GDB:181239;RH122120;RH66811;RH67772;RH81066;SHGC-155221;SHGC-36511;WI-19973 MGC105115 AB collagen;OTTHUMP00000194772;collagen alpha-2(V) chain;collagen, fetal membrane, A polypeptide;type V preprocollagen alpha 2 chain APPROVED protein-coding ENSG00000204262 2210 00366 120190;130000 REVIEWED 2311268 COL6A4P1 collagen, type VI, alpha 4 pseudogene 1 This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009] 3 3 3 p25.1 15145131 15185728 - 15158241 15197472 - 15206869 15247466 - 19507504;19181678;18622395;18400749;12477932;18276594;19054821;19486942;20238217;20848793;20939878;21057832 344875 AB299979;ABBA01025144;AC087590;AC090954;AMYH01013001;FN394065;NR_027927 BAF94136;CAY86115 Hs.722756 1772298 D3S3100 COL6A4;COL6A4P;DIVA;DVWA;VWA6 APPROVED pseudo ENSG00000230524 33484 612397 PROVISIONAL 1322869 COL7A1 collagen, type VII, alpha 1 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] 3 3 p21.1 48576510 48607597 - 48601506 48632593 - 1600946;1580863;6480464;6484113;7240710 8275094 19269366;8170945;9375848;19367581;19250433;19197535;18558993;18496702;18450758;18440202;18429782;18374850;18331784;17916216;17900868;17525268;17495952;17425959;17336503;17229600;17106611;16971478;16923137;16500083;16470588;15888141;15816848;15810887;15774758;15365990;15113589;14727126;12787118;12485454;12353709;12060403;11986329;11874498;11843659;11168577;11167698;11142768;10836608;10821839;10737800;10652000;10620140;10583163;10504458;10469344;10383749;10233777;10232408;10232407;10232406;10084325;9989793;9892921;9881948;9856844;9856843;9840442;9804332;9740253;9668111;9444387;9326325;9245798;9215684;9169408;8757758;8644730;8644729;8618021;8618018;8592061;8541842;8513326;8499916;8422754;8088784;8051117;7963647;7883979;7861014;7513737;5910871;2653224;2537292;1871109;1567409;1469284;1307247;21196708;22266148;16169070;19422682;19435799;19665875;19681861;19945621;20184583;20555349;20920254;19486043;20598510;21113014;21448560;21482078;23624125;22757647;23397949;22939629;21658117;21574979;22070715;23226319;21879237;22209565;20301481 1294 C9JBL3;Q02388;Q59F16 AB209645;ABBA01024643;ABBA01024644;AC121252;AMYH01013151;BQ300155;CH471055;D13694;L02870;L06862;L23982;M65158;M96984;NG_007065;NM_000094;S51236 AAA36357;AAA58965;AAA75438;AAA89196;AAA96439;AAB24637;BAA02853;BAD92882;EAW64893;EAW64894;EAW64895;EAW64896;EAW64897;NP_000085;Q02388 Hs.476218 1675381;1742173;1742175;1743707;1743913;1743915;1743917;1743919;1743921;1743923;1744053;1744055;1744057;1744059;2180100 GDB:192955;GDB:192956;GDB:371386;GDB:375638;GDB:375655;GDB:375661;GDB:375665;GDB:375668;GDB:375674;GDB:384983;GDB:384984;GDB:384985;GDB:384986;RH48881;RH80100 EBD1;EBDCT;EBR1 LC collagen;OTTHUMP00000164822;collagen VII, alpha-1 polypeptide;collagen alpha-1(VII) chain;long chain collagen;long-chain collagen APPROVED protein-coding ENSG00000114270 2214 00358 120120;131705;131750;131850;132000;226600;604129;607523 REVIEWED 1318630 COL6A3 collagen, type VI, alpha 3 This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] 2 2 q37 237897401 237987559 - 238232655 238322850 - 1600940;1580863;6480464;6484113;6907045;7240710 9536084 16335952;8782832;19401702;18366090;17918257;16613849;15965965;15563506;15146197;14702039;12477932;12077460;12011280;11992252;11785962;9516440;9265624;8889548;8862926;8805527;8387021;7533217;3665927;3348212;3198591;1689238;1339440;16141002;19834535;19837927;19851296;20198315;20379614;18400749;21782286;20301468;20301676 1293 B7ZW00;C9JNG9;D9ZGF2;E7ENL6;E9PCV6;I3L392;Q53QF6;Q63HQ4;Q8N4Z1 AB209636;ABBA01042583;ABBA01042584;AC112715;AC112721;AK092021;AK303290;AK304870;AK308451;AL698472;AL706147;AL710464;AMYH01011597;AMYH01011598;BC033174;BC144595;BC150625;BC171790;BQ446249;BU687672;BX641155;BX647361;BX647500;CH471063;CN281809;DC411101;HM015590;M20778;M27449;NG_008676;NM_004369;NM_057164;NM_057165;NM_057166;NM_057167;S49432;X06196;X52022 AAA52057;AAB24261;AAH33174;AAI44596;AAI50626;AAI71790;AAI72233;AAY14906;AAY24135;ADL14511;BAD92873;BAG52467;BAG64366;BAG65607;CAA29557;CAA36267;CAE46068;CAH56139;EAW71103;EAW71104;EAW71105;EAW71106;EAW71107;EAW71108;EAW71109;EAW71110;NP_004360;NP_476505;NP_476506;NP_476507;NP_476508;P12111 Hs.233240 1650556;1797430;2183770;5015861;5017227;5019070;7185938 COL6A3_1840;D10S16;G38154;G44334;RH18099;WI-19458 DKFZp686D23123;DKFZp686K04147;DKFZp686N0262;FLJ34702;FLJ98399 OTTHUMP00000195994;OTTHUMP00000195995;OTTHUMP00000195996;OTTHUMP00000202895;OTTHUMP00000213923;collagen VI, alpha-3 polypeptide;collagen alpha-3(VI) chain APPROVED protein-coding ENSG00000163359 2213 00371 120250;158810;254090 REVIEWED 1313701 COL6A2 collagen, type VI, alpha 2 This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.3 46342461 46377191 + 47518033 47552763 + 1600934;1600938;1580863;6480464;6484113;6907045;7240710 8782832;7791542 19309692;19204726;18852439;18366090;18029348;17602442;16141002;16075202;15563506;15489334;15146197;14981181;12840783;12477932;12374585;12297580;12218063;12176987;12011280;11865138;11381124;10830953;9334230;9099729;8305732;8168508;6852033;3665927;3348212;3198591;2551668;1765372;1690728;1602151;1556127;1544908;23138527;12812986;19698785;20106987;20302629;18400749;21988832;23000965;21906983;20301468;20301676;23452080 1292 C9JH44;H7C0M5;Q6P0Q1 ABBA01021750;ABBA01021751;ABBA01021752;AF218010;AI275476;AK128695;AL044156;AL096746;AL360197;AMYH01012331;AP001101;AP001467;AP001471;AY029208;BC002484;BC065509;BM989656;BT006913;CH471079;CN352095;CN352155;CR536573;M34570;M34571;M34572;M34573;M81834;M81835;M81836;NG_008675;NM_001849;NM_058174;NM_058175;S75462;X06195;X15977 AAA35618;AAA35619;AAA35620;AAA35621;AAA52056;AAB20836;AAG17252;AAH02484;AAH65509;AAP35559;ACE86777;ACE87463;CAA29556;CAA34099;CAB46421;CAG38810;EAX09316;EAX09317;EAX09318;NP_001840;NP_478054;NP_478055;P12110 Hs.420269 1686148;1741761;1742133;1794700;1794702;1794704;2106461 COL6A2_4061;GDB:185152;GDB:192315;PMC34700P1;PMC34700P2;PMC34700P3;RH80325 DKFZp586E1322;FLJ46862;PP3610 OTTHUMP00000115568;OTTHUMP00000115569;OTTHUMP00000115570;collagen VI, alpha-2 polypeptide;collagen alpha-2(VI) chain;human mRNA for collagen VI alpha-2 C-terminal globular domain APPROVED protein-coding ENSG00000142173 2212 02110 120240;158810;254090;255600 REVIEWED 1352880 COL6A1 collagen, type VI, alpha 1 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] 21 21 q22.3 46226091 46249391 + 47401663 47424963 + 1600934;1580863;6480464;6484113;6907045;7240710 8782832 12374585;12011280;11973338;11932968;11865138;11337467;10830953;10407855;9580662;9501082;9334230;9107679;8889548;8618682;8536701;8168508;6852033;3665927;3348212;3198591;1765372;1544908;2446864;12477932;2551668;19309692;19204726;18825676;18634150;18551403;18378883;18366090;18246005;17602442;17537636;17334655;16434404;16227896;16141002;16130093;15563506;15489334;15146197;14981181;12958705;12840783;12736748;20721706;20976770;8900172;21037586;22583932;18400749;21900206;21942715;22012643;17170699;21139048;21906983;20301468;20301676;22268729;23013106 1291 P12109;Q05BT9 ABBA01074220;AJ011932;AK298968;AK299396;AK307989;AMYH01012330;AP001479;AU100220;BC005159;BC022236;BC032821;BC052575;BI769554;BM686857;BM707144;CH471079;CN369002;CN369026;CN369041;M20776;M27447;NG_008674;NM_001848;S75420;X06194;X15879;X15880;X92430;X99109;X99135 AAA52055;AAB20835;AAH05159;AAH22236;AAH32821;AAH52575;BAG61063;BAG61380;CAA29555;CAA33888;CAA33889;CAA67559;CAA67576;EAX09320;EAX09321;EAX09322;NP_001839;P12109 Hs.474053 1684172;1790621;2217178 COL6A1_3124;RH75955;STS_CEB250 OPLL OTTHUMP00000115501;alpha 1 (VI) chain (61 AA);collagen VI, alpha-1 polypeptide;collagen alpha-1(VI) chain APPROVED protein-coding ENSG00000142156 2211 00370 120220;158810;254090;602475 REVIEWED 1313058 COL8A2 collagen, type VIII, alpha 2 This gene encodes the alpha 2 chain of type VIII collagen. The protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. [provided by RefSeq, Dec 2009] 1 1 p34.2 36333433 36338437 - 36560842 36565850 - 1580863;6480464;6484113;7240710 9438378;2019595;18502986;18024822;17721297;17471329;16936088;16908762;15914606;15851557;15175909;14990571;14702039;12782141;12477932;11689488;10686422;9705353;2029894;20144242;18464802;21139683;22020132;23110055;22814818;23291589 1296 E9PP49;P25067 ABBA01023316;ABBA01023317;AK074129;AK090924;AL138787;AMYH01000492;BC096295;BC096296;BC096297;BC099645;CH471059;M60832;NG_016245;NM_005202 AAA62822;AAH96295;AAH96296;AAH96297;AAH99645;BAB84955;EAX07388;NP_005193;P25067 Hs.353001 1795610 COL8A2_1661 FECD;FECD1;FLJ00201;MGC116970;MGC116972;PPCD;PPCD2 OTTHUMP00000009029;OTTHUMP00000194904;collagen VIII, alpha-2 polypeptide;collagen alpha-2(VIII) chain;dJ665N4.1 (collagen type VIII alpha 2);endothelial collagen APPROVED protein-coding ENSG00000171812 2216 08347 120252;136800;609140 REVIEWED 1316172 COLEC10 collectin sub-family member 10 (C-type lectin) This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008] 8 8 8 q23-q24.1 116268405 116308560 + 120148627 120188388 + 120079424 120119207 + 1580863;6480464 12450124;10224141;12975309;12477932;20237496 10584 Q9Y6Z7 AB002631;ABBA01037811;ABBA01037812;AC080033;AC107953;AK291791;AMYH01018986;AY359038;BC103815;BC103816;CH471060;NM_006438;R97432 AAI03816;AAI03817;AAQ89397;BAA81747;BAF84480;EAW91979;EAW91980;NP_006429;Q9Y6Z7 Hs.176615 2161558;2218408 COLEC10_4614;STS-R97432 CLL1;MGC118794;MGC118795 CL-34;OTTHUMP00000228058;collectin 34;collectin liver 1;collectin liver protein 1;collectin-10;collectin-34 APPROVED protein-coding 2220 07403 607620 REVIEWED 1350668 COLEC13 collectin sub-family member 13 408219 15745 1342828 COLEC14 collectin sub-family member 14 408220 30970 1315981 COL9A2 collagen, type IX, alpha 2 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] 1 1 p33-p32 40538750 40555526 - 40766163 40782939 - 1600952;1580863;6480464;6484113;7240710 8528240 16586133;8660302;10364514;19180518;18469698;18246003;18080148;17471097;17024315;16710414;16371896;16249825;16133074;15922184;15625128;15523498;15167667;12782139;12477932;12244547;11805640;11724554;11565064;11308397;10411504;9707347;8454052;8244386;7942845;7829066;3473493;2446864;1429648;16169070;16440132;19913121;20628086;21159828;20358595;21671392;23132862;21228751;20301302;20301479;21311409;19725029 1298 B1AKJ1;B1AKJ3;H0Y409;Q14055 ABBA01023179;AF019406;AL050341;AMYH01000534;BC041479;BC065715;BC136326;BC136327;CH471059;M95610;NG_008031;NM_001852 AAA80977;AAC33512;AAI36327;AAI36328;EAX07224;EAX07225;EAX07226;EAX07227;EAX07228;EAX07229;EAX07230;EAX07231;EAX07232;NP_001843;Q14055 Hs.418012 1698934;1745039;1770970;1777394;2165606;5093622;5127716 A009S44;G32827;GDB:593218;RH103036;RH69207;SHGC-30746;SHGC-35672 DJ39G22.4;EDM2;MED;STL5 OTTHUMP00000006393;alpha 2 type IX collagen;collagen IX, alpha-2 polypeptide;collagen alpha-2(IX) chain APPROVED protein-coding ENSG00000049089 2218 00373 120260;600204;603932;614284 REVIEWED 1350468 COLEC8 collectin sub-family member 8 (conglutinin) 50638 2222 1347762 COLEC9 collectin sub-family member 9 (collectin 43) 50637 2223 1319668 COL8A1 collagen, type VIII, alpha 1 This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011] 3 3 q12.3 100840144 100997848 + 99357440 99515577 + 1580863;6480464;6484113 10731515;10666376;9705353;9438378;2029894;17721297;16936088;16713569;16189514;15489334;12782141;12482545;12477932;12107410;11689488;10823842;19913121;20628086;20385826;20379614;21139683;16344560;19060904;23455636 1295 C9JTN9;P27658 ABBA01061802;ABBA01061803;AC055723;AC069222;AF170702;AK311449;AMYH01013356;AMYH01013357;AY550974;BC013581;BG938623;BQ774361;BT009917;CA393523;CB269463;CH471052;CN484310;DA663372;NM_001850;NM_020351;X57527 AAF89665;AAH13581;AAP88919;AAT52220;ABM84799;CAA40748;EAW79837;EAW79838;EAW79840;NP_001841;NP_065084;P27658 Hs.654548;Hs.740617 1651545;1712949;1717589;1797432;1847252;1851807 COL8A1_2507;D3S3071;D3S4108;RH120564;RH122099;SHGC-2730 C3orf7;MGC9568 OTTHUMP00000192896;OTTHUMP00000192897;cell proliferation-inducing protein 41;collagen VIII, alpha-1 polypeptide;collagen alpha-1(VIII) chain;endothelial collagen;smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64 APPROVED protein-coding ENSG00000144810 2215 00372 120251 REVIEWED 1352305 COLOT1 collagen (type VI, alpha 1), overlapping transcript 1 q22.3 10830953 10596 AF076431 AAD51089 KGC1 protein-coding 2225 1344980 COLGALT1 collagen beta(1-O)galactosyltransferase 1 19 19 19 p13.11 17568107 17595621 + 17527511 17554965 + 17666511 17693965 + 737633;1580863;6480464;6907045 12477932 2341393;19075007;16303743;14702039;8125298;8218172;2649653;2283726;20470363;22939629;21139048;21942715;21252943;22216269;19322201;21628590;22268729;23097496 79709 M0QX72;M0QYH0;Q8NBJ5 ABBA01051211;ABBA01051212;ABBA01051213;AC010618;AK025982;AK057140;AK074941;AK075541;AK225397;AL831905;AMYH01009575;BC020492;BC071684;BC081531;BC108308;CH471106;CS051385;NM_024656 AAH20492;AAH71684;AAI08309;BAB15308;BAC11307;BAC11684;BAG51872;CAI72187;EAW84621;EAW84622;EAW84623;EAW84624;NP_078932;Q8NBJ5 Hs.418795 1653288;1734662;2128558;2175037;5015619;5022576 D11S3114;D19S1017;D19S622E;D19S667E;D1S1361;STS-AA028143 FLJ22329;GLT25D1;MGC117270 glycosyltransferase 25 domain containing 1;glycosyltransferase 25 family member 1;hydroxylysine galactosyltransferase 1;procollagen galactosyltransferase 1 APPROVED protein-coding ENSG00000130309 26182 07986 PROVISIONAL 1320152 COLEC11 collectin sub-family member 11 This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p25.3 3651684 3701058 + 3620512 3669923 + 3642422 3692234 + 6480464 21258343;17179669;12975309;12477932;19724895;19851296;20198315;20237496;20956340;17207965;21664996;21893516 78989 B2R9M5;C9JWT5;F8WB29 AB119525;AB119650;AB119651;AB119652;AB119684;AB119685;AB119686;AB119687;ABBA01006102;ABBA01006103;AC010907;AK303824;AK313840;AMYH01010071;AMYH01010072;AMYH01010073;AY358439;BC000078;BC009951;BE259985;BF316908;BF740034;BM547424;CH471053;CR936641;FB676850;FB676852;FB676854;FB676856;FB676858;FB676885;FB676887;FB676889;NG_031954;NM_001255982;NM_001255983;NM_001255984;NM_001255985;NM_001255986;NM_001255987;NM_001255988;NM_001255989;NM_024027;NM_199235;NR_045659 AAH00078;AAH09951;AAQ88805;AAY24235;ADQ31683;BAF43301;BAF43302;BAF43303;BAF43304;BAF79604;BAF79605;BAF79606;BAF79607;BAG36572;BAG64772;CAI56781;CAS03503;CAS03504;CAS03505;CAS03506;CAS03507;CAS03509;CAS03510;CAS03511;EAX01052;EAX01053;EAX01054;EAX01055;NP_001242911;NP_001242912;NP_001242913;NP_001242914;NP_001242915;NP_001242916;NP_001242917;NP_001242918;NP_076932;NP_954705;Q9BWP8 Hs.32603;Hs.735715 2156074;2220478;2220672 UniSTS:483400;UniSTS:490061;WI-17765 3MC2;CL-K1-I;CL-K1-II;CL-K1-IIa;CL-K1-IIb;CLK1;DKFZp686N1868;MGC3279 CL-K1;OTTHUMP00000115352;OTTHUMP00000115353;OTTHUMP00000200061;collectin kidney I;collectin kidney protein 1;collectin-11 APPROVED protein-coding ENSG00000118004 17213 10847 265050;612502 REVIEWED 1298223 COL9A1 collagen, type IX, alpha 1 This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 q13 70982529 71069494 - 70925743 71012786 - 738111;1600949;1580863;6480464;6484113;7240710 10788539;11565064 8660302;3473493;9707347;19180518;17881354;17553797;17548304;16909383;16718610;16344560;15922184;15880806;15802199;15694129;15523498;15489334;15047691;14702039;14574404;12477932;12399468;12107410;11308397;8244386;7829101;3542919;3294062;2465149;2446864;2209617;1690886;1429648;11724554;21672422;19913121;20507993;20628086;20379614;20358595;21421862;23132862;21768108;20301479 1297 A6NEQ6;Q9H152 ABBA01040267;AF036110;AF036111;AF036112;AF036113;AF036114;AF036115;AF036116;AF036117;AF036118;AF036119;AF036120;AF036121;AF036122;AF036123;AF036124;AF036125;AF036126;AF036127;AF036128;AF036129;AF036130;AK097582;AK125738;AL080275;AL160262;AMYH01016415;AU118474;AW021120;AW022764;BC008620;BC015409;BC063646;BF196880;BI494750;BI495179;CA392556;CH471051;M32133;M32135;M32137;M34534;NG_011654;NM_001851;NM_078485;X54412;X54413 AAA53474;AAA53475;AAC33527;AAC33528;AAF67394;AAH15409;AAH63646;BAG54240;CAA38276;CAA38277;EAW48822;EAW48823;EAW48824;EAW48825;EAW48826;EAW48827;NP_001842;NP_511040;P20849 Hs.590892 1336248;1340900;1663979;1743015;1857821;2124615;5015861;5015881;5020948;7185938 D10S16;D6S1557;D6S313;G35510;GDB:249306;GDB:335751;RH46227;SHGC-852;STS-X54412 DJ149L1.1.2;EDM6;FLJ40263;MED;STL4 OTTHUMP00000016698;OTTHUMP00000016699;alpha-1(IX) collagen chain;cartilage-specific short collagen;collagen IX, alpha-1 polypeptide;collagen alpha-1(IX) chain APPROVED protein-coding ENSG00000112280 2217 00367 120210;614134;614135 REVIEWED 1321049 COL9A3 collagen, type IX, alpha 3 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] 20 20 q13.3 60918859 60942956 + 61448414 61472511 + 1600695;1580863;6480464;6484113;7240710 10090888 10428822;3542919;20029029;8660302;8586434;19180518;18469698;17701042;17471097;16586133;16133074;15922184;15917166;15523498;15489334;15167667;12782139;12601188;12477932;12461395;12096843;11780052;11724554;11565064;11308397;10678658;10655510;9164858;3473493;2446864;1429648;20358595;23132862;21042783;21311409;20301302 1299 Q14050;Q4VXW1 ABBA01021372;ABBA01021373;AF026801;AF026802;AK075240;AL035669;AMYH01012062;AMYH01012063;AMYH01012064;BC004412;BC007574;BC011705;CH471077;L41162;NG_016353;NM_001853;X91013 AAC41947;AAD47357;AAH04412;AAH07574;AAH11705;ABM83872;ABM87193;CAA62495;EAW75333;EAW75334;NP_001844;Q14050 Hs.716639 1675231;1676228;1682427;1792626;1792628;1792630;1795612 COL9A3_1612;PMC15572P1;PMC15572P2;PMC15572P3;RH16374;RH36237;SHGC-35186 DJ885L7.4.1;EDM3;FLJ90759;IDD;MED OTTHUMP00000031507;collagen IX, alpha-3 polypeptide;collagen alpha-3(IX) chain;collagen type IX proteoglycan APPROVED protein-coding ENSG00000092758 2219 00374 120270;600969;603932 REVIEWED 1347237 COLEC12 collectin sub-family member 12 This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011] 18 18 pter-p11.3 309356 490685 - 319355 500729 - 1580863;6480464 11564734;19073604;18423602;15845541;12761161;12601552;12477932;11162630;20351715;20034698;20237496;20379614;21832049;21561871;17043677;23251661 81035 Q5KU26 AA903451;AB005145;AB034251;AB038518;AB052103;ABBA01049810;AL713657;AMYH01008769;AMYH01008770;AP000915;AP005240;BC060789;CH471113;DB473908;NG_030342;NM_130386 AAH60789;ADZ15648;BAB39147;BAB39148;BAB72147;BAD83592;CAD28466;EAX01728;EAX01729;NP_569057;Q5KU26 Hs.464422 1653118;1703940;1726329;1731963;1740347;1774595;2218410;5016781;5022651 COLEC12_4615;D11S2921;D18S170;D18S546;D5S1951;G62465;RH47551;SHGC-67307;SHGC-83651 CLP1;NSR2;SCARA4;SRCL collectin placenta 1;collectin placenta protein 1;collectin-12;hCL-P1;nurse cell scavenger receptor 2;scavenger receptor class A member 4;scavenger receptor class A, member 4;scavenger receptor with C-type lectin APPROVED protein-coding ENSG00000158270 16016 06358 607621 REVIEWED 7243668 COMMD3-BMI1 COMMD3-BMI1 readthrough This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011] 20967262;21890473;21963094 100532731 P35226;R4GMX3 ABBA01034480;ABBA01034481;ABBA01034482;AK313235;AL158211;AMYH01002179;AMYH01002180;AMYH01002181;AMYH01002182;NM_001204062 BAG36046;NP_001190991 Hs.380403 1645614;1736000;2111065;2181296 D10S1289E;D10S2352;D2S238E;WI-11394 COMMD3-BMI1 read-through protein protein-coding 48326 VALIDATED 1602008 COLGALT2 collagen beta(1-O)galactosyltransferase 2 1 1 1 q25 157015884 157117798 - 182171589 182273486 - 183904966 184006863 - 6480464;6907045 19075007;18951430;18391951;14702039;12477932;11318611;9628581;8218172;2649653;2341393;2283726;20546612;20189936;20379614 23127 F5H3T5;Q5SXQ3;Q5SXQ5;Q8IYK4 AB011156;ABBA01027742;AF288389;AK095090;AK095192;AK127287;AK293973;AL157943;AL592299;AMYH01001554;AMYH01001555;BC019709;BC035672;CH471067;DR761966;NM_015101 AAG60609;AAH19709;AAH35672;ADZ15460;BAA25510;BAG52983;BAG53004;BAG54474;BAG57345;EAW91170;EAW91171;EAW91172;NP_055916;Q8IYK4 Hs.387995 1645718;1666341;1711052;1715933;1735054;1755097;1765323;1776770;1781808;1846934 D1S1769E;D1S1821E;D1S3425;RH122702;SHGC-142028;SHGC-148815;SHGC-156106;SHGC-76030;SHGC-76043;SHGC-86155 C1orf17;FLJ37771;FLJ37873;GLT25D2;KIAA0584 OTTHUMP00000033513;glycosyltransferase 25 domain containing 2;glycosyltransferase 25 family member 2;hydroxylysine galactosyltransferase 2;procollagen galactosyltransferase 2 APPROVED protein-coding ENSG00000198756 16790 13583 VALIDATED 736660 COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p25 15466644 15538262 - 15491640 15563258 - 704404;1300297;1580863;6480464;7240710 10087275 9689136;18180250;17300939;16256971;15526038;15489334;14759258;12609505;12477932;11865139;10679527;10529218;10441569;9758617;22088788;22490774;15159418;20370815;20972266 8292 C9JBB2;F8WA67;Q9NP19 ABBA01025140;ABBA01025141;AC027125;AC027129;AF057036;AF229118;AF229122;AF229124;AF229126;AI246303;AI554171;AJ225895;AK128401;AK289688;AMYH01013002;AY150334;AY150335;AY150336;AY150337;AY150338;AY150339;BC074828;BC074829;BC126363;BC144004;BX500613;CH471055;NG_009032;NM_005677;NM_080538;NM_080539 AAC39927;AAF43195;AAF43196;AAF43197;AAF43198;AAF43199;AAF43200;AAF43201;AAF43202;AAH74828;AAH74829;AAO06814;AAO06815;AAO06816;AAO06817;AAO06818;AAO06819;BAF82377;BAG54671;CAA12648;EAW64235;EAW64236;EAW64237;EAW64238;EAW64239;EAW64240;EAW64241;EAW64242;EAW64243;EAW64244;EAW64245;EAW64246;EAW64247;EAW64248;EAW64249;EAW64250;NP_005668;NP_536799;NP_536800;Q9Y215 Hs.146735 1794412;2107947;2113720;2126747 COLQ;COLQ_548;PMC311069P6;WI-17996 EAD;FLJ55041 AChE Q subunit;OTTHUMP00000209564;OTTHUMP00000209565;OTTHUMP00000209566;OTTHUMP00000209567;OTTHUMP00000210839;acetylcholinesterase collagenic tail peptide;acetylcholinesterase-associated collagen;collagenic tail of endplate acetylcholinesterase;single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase APPROVED protein-coding ENSG00000206561 2226 04328 603033;603034 REVIEWED 1346630 COMMD10 COMM domain containing 10 5 5 5 q23.1 111369127 111578514 + 115448626 115656880 + 115420727 115628978 + 6480464 15799966;15489334;14702039;12477932;11042152;17207965;19913121;20628086;22939629;21139048;22688191;22228203 51397 D6RC04;D6RJ90;H0Y9N4;Q9Y6G5 ABBA01069024;ABBA01069025;ABBA01069026;ABBA01069027;ABBA01069028;AC018752;AC034236;AC109456;AF078857;AF161423;AK002147;AMYH01015563;AMYH01015564;AY542165;BC005179;CH471086;NM_016144 AAD44489;AAF28983;AAH05179;AAS22247;ADQ31639;BAA92108;EAW48941;EAW48942;EAW48943;NP_057228;Q9Y6G5 Hs.483136 1668368;1700978;1705290;1709386;1723711;1724791;1755393;1780858;1788998;1789124;2130995;2152916;2179220;2210948 G65578;G65698;RH104116;RH121423;RH122602;RH66590;SHGC-142273;SHGC-30887;SHGC-78602;SHGC-81710;STS-H82747;STS-H92882;bac53028T;stSG629961 FLJ11285;PTD002 COMM domain-containing protein 10;OTTHUMP00000222922;OTTHUMP00000222923 protein-coding ENSG00000145781 30201 16734 PROVISIONAL 1349755 COMMD3 COMM domain containing 3 10 10 10 p12.2 22293008 22296946 + 22645305 22649243 + 22605312 22609246 + 1580863;6480464 16169070;15799966;15489334;12477932;11042152;22939629;21900206;21139048;21890473;21906983 23412 H0Y4E5;H0Y4W0;H0Y6Z9;Q9UBI1;R4GN06;R4GNF2 ABBA01034482;AF078848;AF201948;AK128789;AL158211;AMYH01002179;AW169042;AY542159;BC022898;BF695081;BG496810;BQ930333;BX647275;CH471072;NM_012071 AAD44480;AAF17240;AAH22898;AAS22241;BAG54735;EAW86149;EAW86155;NP_036203;Q9UBI1 Hs.534398 1648732;1667778;2168241;2174855;2178215 D10S2413;RH44345;RH64946;SGC34623;SGC35060 BUP;C10orf8;DKFZp686K0399;FLJ45471 COMM domain-containing protein 3;OTTHUMP00000019286;OTTHUMP00000019287;OTTHUMP00000019288;OTTHUMP00000019289;protein Bup protein-coding 23332 13082 VALIDATED 1323402 COMMD1 copper metabolism (Murr1) domain containing 1 COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009] 2 2 p15 61986307 62216709 + 62132803 62363205 + 6480464 12477932;15799966;19240061;18974300;18940794;18795889;18305112;17919502;17309234;17183367;17097678;16649058;16573520;16305817;16283886;15489334;15205742;14685266;14685242;14645214;14568250;12968035;12547404;22677543;11809725;11329013;9001233;8125298;20550661;20595380;16267171;19433587;19802386;20048074;20068069;20379614;18029348;17207965;21275100;23383273;21483833;22990118;21741370;19270718;21778237;18624398;19339690;20237237;21139048;22130675;22779921 150684 B4DFQ4;E9PE85;H0Y7J4;H7C169;H7C377;Q8N668 AB178811;ABBA01075374;ABBA01075375;ABBA01075376;ABBA01075377;ABBA01075378;ABBA01075379;ABBA01075380;AC018462;AC107081;AC116652;AK223607;AK294203;AMYH01010389;AMYH01010390;BC009266;BC022046;BG182961;BG183486;BG215225;CH471053;D85433;NM_152516 AAH09266;AAH22046;AAX93080;AAY24054;AAY24141;ADQ32226;BAD18972;BAD97327;BAG57515;EAW99981;NP_689729;Q8N668 Hs.468702 1338272;1679031;1746041;1772192;2120064;2137421;5017730 AFMB057ZC1;COMMD1;D2S2165;RH125633;RH70369;RH79649;WI-16949 C2orf5;MGC27155;MURR1 COMM domain-containing protein 1;OTTHUMP00000159817;copper metabolism gene MURR1;protein Murr1 APPROVED protein-coding 23024 06253 607238 VALIDATED 1319139 COMMD2 COMM domain containing 2 3 3 3 q25.1 147869609 147883636 - 150941221 150952968 - 149456257 149470286 - 6480464 15799966;15489334;12477932;11042152;8889548;17207965;14702039;16344560;21832049 51122 F8WBW1;F8WC41;Q86X83 ABBA01058939;AC069216;AF059618;AF125096;AK055223;AMYH01013572;AY542158;BC001228;BC022206;BC046131;BC093077;BG700015;BI792102;BM981499;BQ216242;BU633168;CH471052;DA811158;NM_016094 AAD39913;AAG43117;AAH46131;AAH93077;AAS22240;ADQ33102;EAW78866;EAW78867;NP_057178;Q86X83 Hs.432729 1707326;2109177;2130213;2165073;2174665;5491308 COMMD2_9668;RH12720;RH135840;SHGC-36841;SHGC-77440;SHGC-79272 HSPC042;MGC57611 COMM domain-containing protein 2;OTTHUMP00000216006;OTTHUMP00000216008;OTTHUMP00000216009 protein-coding ENSG00000114744 24993 13081 VALIDATED 1348607 COMMD5 COMM domain containing 5 8 8 8 q24.3 142252099 142255480 - 146046355 146049736 - 146075551 146078932 - 1580863;6480464 15799966;18949406;15489334;14702039;12477932;11871861;10931946;10918053;19795399;21921141 28991 E9PJE4;H0YEQ6;Q9GZQ3 ABBA01005194;AF113540;AF235103;AF290195;AK001477;AK023070;AMYH01019163;AW137480;BC002672;BC003055;BC065729;BG705627;BM924244;BU508224;CH471162;NM_001081003;NM_001081004;NM_014066 AAF14877;AAG09915;AAH02672;AAH03055;AAH65729;BAA91714;BAB14389;EAW82033;EAW82034;EAW82035;EAW82036;EAW82037;NP_001074472;NP_001074473;NP_054785;Q9GZQ3 Hs.631856 1778768 RH71436 FLJ13008;HCARG;HT002;MGC72046 COMM domain-containing protein 5;OTTHUMP00000229074;OTTHUMP00000229075;OTTHUMP00000229076;OTTHUMP00000229078;hypertension-related calcium-regulated gene protein protein-coding ENSG00000170619 17902 16301 608216 VALIDATED 1314525 COMMD4 COMM domain containing 4 15 15 15 q24.2 52554815 52559052 + 73415427 73419667 + 75628374 75632614 + 6480464 15799966;11256614;15489334;14702039;12477932;11230166;8125298;22939629;21139048;21890473;21906983;22053931 54939 H3BM91;H3BPG2;H3BQF2;H3BRX0;H3BTV9;H3BUL2;Q9H0A8 ABBA01060521;AC068338;AK000459;AK057145;AK225716;AK293708;AK314740;AL136872;AMYH01006814;AY542160;BC000837;BC033744;BC040944;BC068998;BC069195;BI829484;CH471136;CR533452;NM_017828 AAH00837;AAH68998;AAS22242;BAA91178;BAG37281;BAG57141;CAB66806;CAG38483;EAW99261;EAW99262;EAW99263;NP_060298;Q9H0A8 Hs.741298 1736482;2162970;2169525;5117897 A005A02;D15S694E;G10209;GDB:631813 FLJ20452 COMM domain-containing protein 4;OTTHUMP00000183484;OTTHUMP00000233101 protein-coding ENSG00000140365 26027 13083 VALIDATED 1315279 COMTD1 catechol-O-methyltransferase domain containing 1 10 10 10 q22.2 70281988 70284029 - 76663735 76665776 - 76993729 76995770 - 737633;1580863;6480464 12477932 15489334;15164054;14702039;12975309;16385451;20877624;22990118;22747683 118881 Q86VU5;R4GNF4 ABBA01020260;AK074421;AK290452;AK302283;AL390034;AMYH01002837;AY358476;BC023663;BC047774;CH471083;NM_144589 AAH23663;AAH47774;AAQ88840;BAB85077;BAF83141;BAG63626;EAW54575;EAW54576;NP_653190;Q86VU5 Hs.355333 2118541 RH48100 FLJ23841 OTTHUMP00000019881;catechol O-methyltransferase domain-containing protein 1 protein-coding ENSG00000165644 26309 08678 PROVISIONAL 1344337 COP clathrin-ordered protein 1313 2229 1317181 COMMD7 COMM domain containing 7 20 20 20 q11.21 28045955 28085739 - 30754154 30795475 - 31290493 31331814 - 6480464 15799966;15489334;14702039;12477932;11780052;10393949;20379614;22939629;20979692;21890473;23049798 149951 Q86VX2 ABBA01019254;ABBA01019255;ABBA01019256;ABBA01019257;AJ012490;AK027893;AK096307;AK097059;AL035071;AMYH01011850;AMYH01011851;AMYH01011852;AY542162;BC000628;BC022073;BC047440;BG715846;BQ006261;BX640505;CH471077;CR383702;DN993528;NM_001099339;NM_053041 AAH00628;AAH47440;AAS22244;BAB55436;BAG53254;EAW76357;EAW76358;EAW76359;EAW76360;EAW76361;EAW76362;EAW76363;EAW76364;NP_001092809;NP_444269;Q86VX2 Hs.408427 1677634;2131005;2163467 D20S1117;RH25024;WI-20368 C20orf92;FLJ14987;MGC33315;dJ1085F17.3 COMM domain-containing protein 7;OTTHUMP00000030609 protein-coding ENSG00000149600 16223 13085 VALIDATED 1317050 COMMD9 COMM domain containing 9 11 11 11 p13 36441880 36459455 - 36250418 36267575 - 36293842 36310999 - 6480464 15799966;15489334;14702039;12477932;11230166;11042152;8125298;22939629;21139048 29099 E9PJ95;Q53FR9;Q9P000 ABBA01060850;AC087277;AF161515;AI090006;AK055668;AK223213;AK290065;AK295590;AK298978;AK314477;AL136688;AMYH01003493;AY542164;BC010892;BC092458;BC108685;BG702189;BM172201;CH471064;NM_001101653;NM_014186 AAF29130;AAH10892;AAS22246;ABM83598;ABM86840;BAD96933;BAF82754;BAG37082;BAG51551;BAG58482;BAG61072;CAB66623;EAW68128;EAW68129;EAW68130;NP_001095123;NP_054905;Q9P000 Hs.279836 2109181;2139408;2160214;5014051;5022578;5037552;5115844 COMMD9_9578;D11S2307E;D1S1423;D8S2278;D8S2279;RH64870;ksks33 FLJ31106;HSPC166 COMM domain-containing protein 9;OTTHUMP00000232633;OTTHUMP00000232634;OTTHUMP00000232635 protein-coding 25014 13087 612299 VALIDATED 736605 COMP cartilage oligomeric matrix protein The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2008] 19 19 p13.1 18754583 18763114 - 18893583 18902114 - 1600702;1600705;1580863;6480464;6907045;7240710 7670471;7670472 7713493;19447929;19276170;19125286;19035482;18855621;18193163;17993464;17894003;17588949;17579668;17570134;17195216;17033713;16802351;16542502;16520029;16344560;16340129;16214313;16051604;15880723;15749701;15694129;15523498;15489334;15472220;15266613;15057824;12819015;12792737;12768438;12483304;12477932;12225811;11891674;11782471;11746045;11746044;11565064;11501943;11084047;10405447;9921895;9887340;9749943;9685393;9463320;9184241;9021009;8307576;8279467;8125298;7533784;19913121;20628086;19087608;20819661;20033473;10852928;15047691;15075323;19605679;19762713;19877068;20301660;20544356;21042783;22264230;22764748;21834907;21644213;21599986;21616158;21843649;21029365;21872564;21922596;22068351;21221577;21965141;22163547;21940632;20301302;22253028;22241609;22573329;23133613;22660798 1311 B4DKJ3;G3XAP6;P49747 AB086984;ABBA01051290;AC003107;AK074508;AK223216;AK290595;AK296586;AK297798;AK297814;AMYH01009601;AU120397;BC033676;BC110847;BC125092;CH471106;L32137;NG_007070;NM_000095;S79499;S79500 AAA57253;AAB35269;AAB35270;AAB86501;AAI10848;AAI25093;ABM84218;ABM87644;BAC11031;BAC53888;BAD96936;BAF83284;BAG59205;BAG60137;BAG60152;EAW84735;EAW84736;EAW84737;NP_000086;P49747 Hs.1584 1745897;1745899;1858202;2135692;5491852 COMP;GDB:681601;GDB:681607;STS-L32137;STS-N94385 EDM1;EPD1;MED;MGC131819;MGC149768;PSACH;THBS5 OTTHUMP00000240772;OTTHUMP00000240773;OTTHUMP00000240774;TSP5;cartilage oligomeric matrix protein;cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple);cartilage oligomeric matrix protein(pseudoachondroplasia, epiphyseal dysplasia 1, multiple);pseudoachondroplasia (epiphyseal dysplasia 1, multiple);thrombospondin-5 APPROVED protein-coding ENSG00000105664 2227 02632 132400;177170;600310 REVIEWED 1606132 COMMD6 COMM domain containing 6 COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009] 13 13 13 q22 56997220 57009856 - 74997351 75009992 - 76099350 76111991 - 6480464 15799966;16573520;15489334;15057823;12477932;11829485;23383273;22939629;21139048;21890473;22505724 170622 B0QZ40;H7C607;Q7Z4G1 ABBA01021643;AF086081;AF169971;AK000009;AL137244;AMYH01005213;AW516002;AY542161;BC110837;BC117391;BC143912;BC171758;BM476717;BX538116;CD175553;CH471093;DB487154;NM_203495;NM_203497;W94914 AAI17392;AAI43913;AAI71758;AAQ13599;AAS22243;ADR83450;EAW80539;EAW80540;EAW80541;NP_987091;NP_987093;Q7Z4G1 Hs.508266 1685433;1700430;2111630 D13S1565;RH103836;RH99040 Acrg Acrg embryonic lethality minimal region ortholog;COMM domain-containing protein 6;OTTHUMP00000018507;OTTHUMP00000200355 APPROVED protein-coding ENSG00000188243 24015 13084 612377 VALIDATED 1313413 COMMD8 COMM domain containing 8 4 4 4 p12 47901361 47914236 - 47147567 47160433 - 47452815 47465676 - 6480464 15799966;15489334;14702039;12477932;16169070;20379614;17207965;22939629;21900206;21139048;21890473 54951 Q9NX08 ABBA01014335;ABBA01014336;AC107398;AF182421;AK000509;AMYH01014159;AY542163;BC008371;BC015145;BC019826;CH471069;NM_017845 AAG14957;AAH08371;AAH15145;AAH19826;AAS22245;ADQ32450;BAA91216;EAW93033;EAW93034;NP_060315;Q9NX08 Hs.23956 2109179;2158320;2158322 A005Z20;COMMD8_9853;G20623 FLJ20502 COMM domain-containing protein 8;OTTHUMP00000125283 protein-coding ENSG00000169019 26036 13086 PROVISIONAL 1321477 COPA coatomer protein complex, subunit alpha In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 q23.2 158525001 158579978 - 160258377 160313354 - 1580863;6480464;6484113 21300694;21319273;16956762;11031247;1429581;9115636;8533093;8599108;17081983;16964243;15592455;15302935;14527956;12586295;12477932;12388752;12379802;11323436;9751720;9533652;9365789;9207175;9186507;8940050;8858162;8703076;8647451;8537409;8355790;16169070;10921873;9482852;14729954;17215244;19509059;19615732;20562859;22863883;22939629;16196087;19765186;20360068;22335553;22586326;21252943;18781797;19596686;21139048;21890473;21906983;21987572;20473970;21853274;22053931;22268729;22337587;22505724;22797925 1314 P53621 ABBA01016612;ABBA01016613;AK129830;AK307953;AL445230;AL513282;AMYH01001452;BC037941;BC038447;CH471121;CQ871262;DC308331;NM_001098398;NM_004371;U24105 AAB70879;AAH38447;CAH56812;EAW52723;EAW52724;EAW52725;NP_001091868;NP_004362;P53621 Hs.162121;Hs.685025 1673385;1735982;1736204;1846757;2119818;2137080;2160668;2168046;2181063 A002P23;D1S2004E;D1S2032E;D4S3307;RH36199;RH36433;RH47886;SHGC-31631;STS-T81091 FLJ26320;HEP-COP HEPCOP;OTTHUMP00000031846;OTTHUMP00000031847;alpha coat protein;alpha-COP;alpha-coat protein;coatomer subunit alpha;proxenin;xenin APPROVED protein-coding ENSG00000122218 2230 03564 601924 REVIEWED 737102 COMT catechol-O-methyltransferase Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008] 22 22 q11.21 18309309 18336530 + 19929263 19957498 + 1300384;1300383;1359089;1580863;1300298;2289709;2289710;2289711;2289713;2289714;2289716;2289717;2289719;2289720;2289721;2289722;2289723;2289724;2289726;2289729;2289734;2289780;2289781;2289788;2289789;1300048;2289712;2289715;2289718;2289725;2289740;2289742;2289747;2289785;2289787;6480464;6907045;7240710 12402217;11840516;12584150;9707588;18064318;17562079;17535988;17497175;17442187;17220335;16730007;17507624;16126332;15285606;15010821;12810635;12036914;15596044;17978496;6337293;16443508;16437585;12711835;12010186;17507616;17429315;16492910;11142424;17240060;17143180;17084978;15698633;14714585 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1312 E7EMS6;E7EUU8;F8WBW9;H7BZ45;P21964 ABBA01005400;AC000080;AC000090;AC005663;AK130031;AK290440;AMYH01012482;AY341246;BC000419;BC005867;BC011935;BC100018;BE386545;BE728779;BT007125;BX461394;CH471176;CR456422;CR456997;EF103918;EF103922;EF217321;EF217322;FJ410131;FJ410132;M58525;M65212;M65213;NG_011526;NM_000754;NM_001135161;NM_001135162;NM_007310;Z26491 AAA68927;AAA68928;AAA68929;AAH00419;AAH05867;AAH11935;AAI00019;AAP35789;AAP88929;ABM84337;ABM87731;ABN14344;ABN14345;ACJ38231;ACJ38232;BAF83129;CAA81263;CAG30308;CAG33278;CAK54414;CAK54713;EAX03010;EAX03011;NP_000745;NP_001128633;NP_001128634;NP_009294;P21964 Hs.370408;Hs.713616 1645894;1683313;1683387;1748239;1748241;1791175;1791898;1793310;2112438;2112486;2112492;2114366 D22S1609;D22S1662;D22S1663;D22S873;G66727;G66728;PMC130047P3;PMC20764P1;RH17808;RH27791;RH93076;WI-22519 OTTHUMP00000197748;OTTHUMP00000197749;OTTHUMP00000197750;OTTHUMP00000197751;OTTHUMP00000197846;OTTHUMP00000198331;catechol O-methyltransferase APPROVED protein-coding ENSG00000093010 2228 00284 116790;167870;181500 REVIEWED 1351075 COPG2IT1 COPG2 imprinted transcript 1 (non-protein coding) 7 q32 124969310 124978774 + 14702039;10995575;9110174;8619474;19844787 53844 AACC02000030;AACC02000031;ABBA01057584;AF038190;AK123640;AMYH01025235;CH236950;NR_024086 Hs.715567 1647664;2127795;2184864 D7S2945;RH66577;T16134 CIT1;COPG2AS;DKFZP761N09121;FLJ41646;NCRNA00170 miscrna 2238 610581 VALIDATED 732794 COPB2 coatomer protein complex, subunit beta 2 (beta prime) The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002] 3 3 q23 140559123 140591151 - 139076433 139108522 - 1580863;6480464 17220478;17353931;16956762;8335000;11031247;11030615;8533093;8599108;18434597;17081983;15489334;14743216;14527956;12665801;12477932;12388752;11323436;10982407;10921873;9858824;9360998;8940050;8537409;8334999;11897493;20562859;14729954;20362547;22863883;22939629;16196087;18029348;18781797;20360068;21081666;21139048;21890473;21906983;22446961;22586326;9482852;9751720;22337587;22505724 9276 B4DZI8;D6R997;D6RBG7;D6RBT6;D6RBZ7;D6RCL6;H0Y938;H0YAC7;P35606 ABBA01059064;AC024933;AK302943;AK304219;AMYH01013538;BC000326;CH471052;CS185545;DC347783;DC385126;NM_004766;NR_023350;X70476 AAH00326;ADZ15522;BAG64100;BAG65091;CAA49900;CAJ42726;EAW79039;EAW79040;NP_004757;P35606 Hs.681616 1684698;2159059;2180000;5094977;5107726 COPB2;D3S2902E;D3S3336;RH48045;RH93913 beta'-COP OTTHUMP00000217144;OTTHUMP00000217145;beta'-coat protein;betaprime-COP;coatomer binding complex, beta prime subunit;coatomer subunit beta';p102 APPROVED protein-coding ENSG00000184432 2232 06103 606990 VALIDATED 731922 COPB1 coatomer protein complex, subunit beta 1 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 11 11 p15.2 14435629 14477974 - 14479049 14521441 - 1580863;5131491;6480464 18491053 10199403;18556652;16956762;11031247;1840503;8533093;8599108;17140284;16713569;16381901;16344560;16189514;15489336;15489334;14702039;12582157;12486083;12477932;12463424;12437930;12388752;12134073;11897493;11884415;11703931;11409905;11230166;11076863;10982407;10921873;10720466;10318838;9207175;8940050;8601610;8355790;7982906;1898986;11463741;11264386;9017839;15202998;11056392;8858162;9482852;21319273;17148452;23182705;21832049;22863883;22939629;16196087;22586326;20360068;21081666;21139048;21693764;21890473;21906983;21987572;14527956;9751720;14729954;18725938;19149577;20622010;21543478;22337587;22797925 1315 E9PKQ1;E9PP63;E9PP73;P53618 AA443270;ABBA01061105;ABBA01061106;ABBA01061107;AC018523;AF084457;AF111807;AK001203;AK128844;AL136593;AMYH01003401;AMYH01003402;BC012572;BC037280;CH471064;DA725605;DB455108;NM_001144061;NM_001144062;NM_016451;X82103 AAD41240;AAH37280;AAL39009;ABM83405;ABM86616;CAA57622;CAB66528;CAL38259;EAW68481;EAW68482;EAW68483;EAW68484;EAW68485;NP_001137533;NP_001137534;NP_057535;P53618 Hs.339278 1648176;1731521;2136118;2183669 A002G21;D11S1245;D11S861;HSC1BE082 COPB;DKFZp761K102;FLJ10341;FLJ46444;FLJ57957 OTTHUMP00000231098;OTTHUMP00000231099;beta coat protein;beta-coat protein;beta-cop;coatomer subunit beta APPROVED protein-coding ENSG00000129083 2231 02981 600959 REVIEWED 1315598 COPE coatomer protein complex, subunit epsilon The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 19 19 p13.11 18871323 18891199 - 19010323 19030199 - 1580863;6480464 12388752;16956762;11031247;8533093;8599108;17721809;17140284;16381901;15489336;15489334;15057824;14702039;12665801;12477932;11323436;11256614;11230166;11076863;10921873;10531302;10469566;8858162;8355790;8125298;8940050;16169070;9482852;19632984;20237496;22863883;22939629;22990118;16196087;18781797;20360068;20639865;21139048;21890473;21906983;23383273;14527956;9751720;22337587 11316 M0QXB4;M0R061;O14579 ABBA01051296;ABBA01051297;ABBA01051298;AC002985;AC005197;AF092438;AI680336;AJ131182;AJ249366;AK023303;AK222584;AK315281;AL136928;AMYH01009605;BC003155;BC007250;BC017285;BC052619;BI520280;CH471106;CR456886;HH768353;HH768391;NM_007263;NM_199442;NM_199444 AAB81543;AAC24612;AAH03155;AAH07250;AAH17285;AAP97213;ABM84343;ABM87734;BAD96304;BAG37690;CAA10316;CAB55628;CAB66862;CAG33167;CAL38636;CBX84922;CBX84941;EAW84748;EAW84749;EAW84750;EAW84751;EAW84752;EAW84753;EAW84754;EAW84755;EAW84756;EAW84757;NP_009194;NP_955474;NP_955476;O14579 Hs.10326 2119561 RH48244 FLJ13241;epsilon-COP coatomer epsilon subunit;coatomer subunit epsilon;epsilon coat protein;epsilon-coat protein APPROVED protein-coding ENSG00000105669 2234 06089 606942 REVIEWED 1345265 COPG1 coatomer protein complex, subunit gamma 1 3 3 q21.3 130451143 130479306 + 128968453 128996616 + 1580863;6480464 17353931;16956762;11031247;8533093;8599108;15489334;14702039;14690497;14527956;12477932;12388752;12134073;11893085;11884415;11056392;11018518;10982407;10931946;10921873;10720466;8940050;9482852;20562859;17148452;19039328;19615732;20468064;8858162;22863883;22939629;17314511;18029348;18781797;20360068;21900206;19471022;21139048;21890473;21906983;22586326;9751720;14729954 22820 D6RG17;H0Y8G2;H0Y8X7;Q9Y678 AB047846;ABBA01020933;ABBA01020934;AC137695;AF100756;AK001724;AK024721;AK025147;AK123939;AK291693;AK309821;AMYH01013474;AMYH01013475;BC020498;BC066650;BU521557;CH471052;NM_016128 AAD43020;AAH20498;AAH66650;BAB17657;BAF84382;BAG50968;BAG53983;EAW79267;EAW79268;EAW79269;EAW79270;NP_057212;Q9Y678 Hs.518250 1678533;1854077;2149065;2160648 D3S3816;DBEST27818;HSC2JD062;RH98834 COPG;FLJ21068 OTTHUMP00000215377;coat protein gamma-cop;coatomer protein complex, subunit gamma 1;coatomer subunit gamma;coatomer subunit gamma-1;gamma-1-COP;gamma-1-coat protein;gamma-COP;gamma-coat protein APPROVED protein-coding ENSG00000181789 2236 09887 VALIDATED 1347391 COPG2 coatomer protein complex, subunit gamma 2 7 7 q32 129933316 130004138 - 130146079 130353598 - 1580863;6480464 11893085;11884415;17353931;11056392;11030615;14702039;12747765;12690205;12477932;11920156;1472999;17148452;11409905;10995575;10921873;10556286;10318838;9751720;8940050;1898986;22939629;22990118;17314511;21139048;21890473;21906983;22456293;22586326;19322201;14729954 26958 F6X838;H7C1T7;Q9UBF2 AACC02000027;AACC02000028;AACC02000029;AACC02000030;AACC02000031;AACC02000032;AACC02000033;AB047847;ABBA01057583;ABBA01057584;ABBA01057585;ABBA01057586;ABBA01057587;AC007938;AC009274;AC090520;AC144863;AC145213;AC145656;AC234644;AF157833;AF207598;AF308295;AF324497;AI566718;AK002086;AK022934;AK024414;AK291409;AL162012;AMYH01017933;AMYH01017934;AMYH01017935;AMYH01017936;AMYH01017937;AMYH01017938;AMYH01025235;BC017443;BC110796;BG470623;BG704011;BX089636;BX353590;CH236950;CH471070;NM_012133 AAF14271;AAF19433;AAG48262;AAH17443;AAI10797;AAL17778;BAA92078;BAB14315;BAB17658;BAF84098;BAG51296;CAB82364;EAL24085;EAW83769;NP_036265;Q9UBF2 Hs.6421 1647664;1666061;1695426;1711334;1847069;2127795;2128889;2184864;2186448;2218754;5093254 A009K17;COPG2_4062;D7S2945;G32611;RH12524;RH48848;RH66577;SHGC-68793;SHGC-84921;T16134;WI-18390 2-COP;DKFZp761N09121;FLJ11781 coat protein, nonclathrin, gamma-2-cop;coatomer subunit gamma-2;gamma-2-COP;gamma-2-coat protein protein-coding 2237 05074 604355 VALIDATED 1626577 COPS5P1 COP9 signalosome subunit 5 pseudogene 1 6 6 6 q16.1 94222284 94223442 - 93858166 93859407 - 93801543 93802701 - 135270 ABBA01040579;AL138731;AMYH01016515;NG_003102 COPS5P APPROVED pseudo 24332 INFERRED 1602321 COPRS coordinator of PRMT5, differentiation stimulator 17 17 17 q11.2 27098524 27105966 - 27203009 27210369 - 30178884 30186326 - 6480464 18404153;17632510;12477932;10843809;19615732;23184937;22193545;17620599 55352 H9KV77;J3QRX4;J3QRX6;J3QRX9;Q9NQ92 ABBA01014949;AC004253;AF407672;AJ272196;AK024772;AMYH01008325;BC012386;BC035483;BQ671018;CH471147;DB472863;NM_018405 AAH12386;AAK97661;CAB77267;EAW80260;EAW80261;EAW80262;EAW80263;NP_060875;Q9NQ92 Hs.462729 1671517;1676836;1771528 A008Y08;D17S1666;RH91727 C17orf79;COPR5;FLJ21119;HSA272196;TTP1 OTTHUMP00000163705;OTTHUMP00000163706;cooperator of PRMT5;coordinator of PRMT5 and differentiation stimulator APPROVED protein-coding ENSG00000172301 28848 13675 VALIDATED 1320520 COPS6 COP9 signalosome subunit 6 The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008] 7 7 q22.1 99524519 99527759 + 99686583 99689823 + 737633;6480464 12477932 17337451;18060501;16169070;15757663;15489334;15383276;14667819;14647295;12732143;12690205;12628923;12615944;12446680;12237292;12220626;11531413;11337588;11285227;11244567;10903862;17403899;18606781;21145461;22474075;16036220;10958988;9707402;9535219;9520381;9341143;9094673;8195203;7666531;7494303;7474100;7474080;1222062;15832179;16949367;16964240;19615732;21317535;18850735;19141280;23086934;23275442;21555518;22863883;22939629;20399188;16045761;21139048;21890473;21906983;21963094;20360068;21900206;21903422;16503656;17079684;22767593;22414063;18029348;21625211;21988832;23187808;16260596;22032989;19295130;22053931;22190034;22505724 10980 C9JQK5;E7EM64;H7C3T0;Q7L5N1 AACC02000084;ABBA01013238;AC073842;AK295237;AK312024;AMYH01017726;BC002520;BI113801;CB990467;CD367717;CH236956;CH471091;HB886687;HC944096;NM_006833;U70735 AAD03469;AAH02520;ABM82869;ABM85853;BAG34961;BAG58230;CBF67503;CBU92376;EAL23857;EAW76601;EAW76602;NP_006824;Q7L5N1 Hs.15591 1653297 WI-11428 CSN6;MOV34-34KD COP9 constitutive photomorphogenic homolog subunit 6;COP9 signalosome complex subunit 6;COP9 subunit 6 (MOV34 homolog, 34 kD);H_NH0506M12.12;JAB1-containing signalosome subunit 6;MOV34 homolog, 34 kD;OTTHUMP00000206324;OTTHUMP00000206384;SGN6;hVIP;signalosome subunit 6;vpr-interacting protein APPROVED protein-coding ENSG00000168090 21749 16735 614729 REVIEWED 1350505 COPS3 COP9 signalosome subunit 3 The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 p11.2 17090864 17125316 - 17149938 17184617 - 1580863;6480464 15861129;9535219;15489334;15325100;14647295;12917637;12732143;12665801;12628923;12620389;12508107;12477932;12220626;11997338;11418127;11337588;11285227;11114242;10766246;10191102;9707402;17353931;12615944;10903862;15588942;17609381;18606781;21145461;16949367;16964240;17429597;19615732;18029348;15342556;17207965;16036220;11967155;18850735;19141280;22863883;22939629;23213463;23275442;23383273;16196087;19656241;20399188;21436869;16045761;18781797;19596686;20360068;20639865;21987572;22414063;19576224;21139048;21890473;21906983;21963094;16503656;17079684;17452440;22767593;22237956;16260596;22032989;16624822;19295130;22053931;22190034;22505724 8533 C9JLV5;H7C3P9;J3KTQ1;J3QKR0;J3QL22;J3QS85;K7EJF9;K7ELN6;K7ES36;Q9UNS2 ABBA01009764;ABBA01009765;ABBA01009766;AC055811;AF031647;AF098109;AK297706;AK302304;AK312476;AK316400;AMYH01008155;BC001891;BP260214;BQ018146;BU952436;CH471196;NM_001199125;NM_003653 AAC14197;AAD41247;AAH01891;ADQ31729;BAG35380;BAG60063;BAG63643;BAH14771;EAW55711;EAW55712;EAW55713;NP_001186054;NP_003644;Q9UNS2 Hs.6076 1673360;1729962;1734530;2136568;2217182;7184642;7184718 COPS3_2756;D17S1462E;D17S1925;D17S71;STS-W80395 CSN3;SGN3 COP9 complex subunit 3;COP9 constitutive photomorphogenic homolog subunit 3;COP9 signalosome complex subunit 3;JAB1-containing signalosome subunit 3;OTTHUMP00000065517;signalosome subunit 3 APPROVED protein-coding ENSG00000141030 2239 07262 604665 REVIEWED 1345570 COPS4 COP9 signalosome subunit 4 This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 4 4 q21.22 84175263 84215995 + 83956239 83996971 + 1304475;1580863;6480464 9707402 10903862;11114242;17403899;18606781;21145461;22414063;16189514;17353931;15489334;14702039;14647295;12732143;12628923;12615944;12477932;12220626;11824616;11567875;11337588;11285227;10991940;10585392;9847074;9535219;8125298;16949367;16964240;19615732;16036220;21102408;18850735;19141280;23086934;23275442;22863883;22939629;16196087;18029348;19656241;20399188;15161933;20360068;21903422;21139048;21890473;16503656;17079684;22767593;16045761;16260596;22032989;16624822;19295130;22190034;22948661;22952844 51138 B3KM48;D6RAX7;D6RD63;D6REK7;D6RFN0;Q9BT78 ABBA01063454;ABBA01063455;ABBA01063456;AC021105;AC073840;AC108473;AF100757;AK001148;AK001210;AK024005;AK094238;AK223178;AMYH01014357;BC004302;BC009292;BC093007;CD690475;CH471057;NM_001258006;NM_016129 AAD43021;AAH04302;AAH09292;AAH93007;ADZ15915;BAA91555;BAD96898;BAG50860;BAG51250;BAG52847;EAX05921;EAX05922;NP_001244935;NP_057213;Q9BT78 Hs.190384 1713985;1720273;2112750;2143497;2143499;2146007;2176357;2217184;5015619 COPS4_2679;D11S3114;D3S4442;D4S3102;G34993;RH119422;RH123885;SHGC-50483;STS-Z40742 CSN4;MGC10899;MGC15160 COP9 constitutive photomorphogenic homolog subunit 4;COP9 signalosome complex subunit 4;JAB1-containing signalosome subunit 4;OTTHUMP00000160811;OTTHUMP00000219385;OTTHUMP00000219386;OTTHUMP00000219387;OTTHUMP00000219389;SGN4;signalosome subunit 4 APPROVED protein-coding ENSG00000138663 16702 09888 REVIEWED 1320761 COPS7A COP9 signalosome subunit 7A 12 12 12 p13.31 8450370 8458265 + 6703482 6711292 + 6833150 6841041 + 6480464 16169070;15502821;15489334;14702039;14647295;12732143;12628923;12477932;12220626;12020345;11337588;11285227;9707402;9535219;12615944;22863883;10903862;17403899;18606781;21145461;16344560;16949367;16964240;17350042;17429597;19596235;19615732;16036220;18029348;18850735;19141280;22939629;19656241;20360068;21139048;21906983;21963094;16503656;17079684;16260596;23086934;23213463;23383273;19295130;22797925;22952844 50813 F5GXT7;F5GYF7;F5H248;F5H3M6;F5H4U8;F5H4Z0;F5H7C6;G3XAP1;Q9UBW8 AB014764;AB033603;ABBA01017652;ABBA01017653;AC125494;AF193844;AF210052;AK001318;AK021721;AK022488;AK128792;AK292621;AMYH01004206;BC011789;BC093015;BQ008460;CH471116;DA043679;DA365275;DC355036;NM_001164093;NM_001164094;NM_001164095;NM_016319 AAF04307;AAF19205;AAH11789;AAH93015;ABM83820;ABM87140;BAA85390;BAA91620;BAB14052;BAB87805;BAF85310;BAG51042;BAG54737;EAW88745;EAW88746;EAW88747;EAW88748;EAW88749;NP_001157565;NP_001157566;NP_001157567;NP_057403;Q9UBW8 Hs.530823 1849424;2149545 RH11165;WI-8013 CSN7A;MGC110877 COP9 complex subunit 7a;COP9 constitutive photomorphogenic homolog subunit 7A;COP9 signalosome complex subunit 7a;JAB1-containing signalosome subunit 7a;OTTHUMP00000240328;OTTHUMP00000240329;OTTHUMP00000240332;OTTHUMP00000240333;OTTHUMP00000240335;OTTHUMP00000240342;OTTHUMP00000240344;OTTHUMP00000240345;SGN7a;dermal papilla-derived protein 10;signalosome subunit 7a APPROVED protein-coding ENSG00000111652 16758 16736 VALIDATED 1321125 COPS5 COP9 signalosome subunit 5 The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008] 8 8 q13.1 68117868 68137116 - 67955314 67974562 - 6480464;6484113 19214193;12032852;12082530;15480426;15887118;8837781;9341143;18029348;19400951;19246649;19139918;18667426;18593980;18534028;18346358;18285702;18246048;18199546;18006276;17914096;17879958;17583730;17133595;17052710;17027978;16936264;16882664;16713569;16624822;16483597;16410250;16300740;16187115;16122907;16000397;15994944;15899841;15688030;15671554;15489334;15353483;15304329;15234121;15231748;15154004;15126503;14993265;14737182;14732868;14719054;14707456;14702039;14666612;14647295;14500717;12860294;12732143;12702588;12628923;12477932;12220626;12183637;12119282;11818334;11812799;11709497;11707426;11704659;11337588;11285227;11089976;10766246;10722692;10362352;10086358;9707402;9535219;18173839;12615944;10903862;15757663;17403899;18606781;21145461;22013077;22474075;20698225;14500725;15604093;16949367;16951171;16964240;17350042;17429597;18246793;18476592;19349901;19461157;19615732;20034471;20093369;16036220;20936779;16045761;22668871;20890423;20589433;18850735;19141280;22675932;22863883;22990118;19826004;22867945;19268428;20360068;21510940;21832049;22939629;20978819;19656241;20399188;21935931;21499297;17951406;22414063;22609399;17623298;18624398;19444310;21249194;21903422;22797071;23658844;23776465;15082527;16503656;16861300;17050680;17079684;21254166;21466889;21903097;22103747;22767593;22779921;19576224;21139048;21890473;21906983;21689417;22350412;21837501;21382349;21625211;21963094;21988832;23408908;23555860;23636414;23080069;23086934;23275442;23288897;23357576;16260596;19295130;22190034;22505724;22959436;22311264;22911848 10987 E5RFS1;E5RG35;E5RHF2;E5RHH5;E5RK55;Q92905 AA203444;AB209134;ABBA01041887;ABBA01041888;AC109335;AC110998;AK056967;AK128519;AK310434;AK311071;AMYH01018776;AMYH01018777;BC001187;BC001859;BC007272;BI752436;BX648542;CH471068;CR541678;HC062374;NM_006837;U65928;U70734 AAB16847;AAD03468;AAH01187;AAH01859;AAH07272;ADZ15656;BAD92371;CAG46479;CAH10375;CBH51784;EAW86928;EAW86929;EAW86930;EAW86931;NP_006828;Q92905 Hs.491912 2160870;5015621;5020948;5022578;5109281 D11S3732;D1S1423;D1S1425;G35510;GDB:314409 CSN5;JAB1;MGC3149;MOV-34;SGN5 38 kDa Mov34 homolog;COP9 constitutive photomorphogenic homolog subunit 5;COP9 signalosome complex subunit 5;OTTHUMP00000226972;jun activation domain-binding protein 1;signalosome subunit 5 APPROVED protein-coding ENSG00000121022 2240 06888 604850 REVIEWED 1353959 COPS2 COP9 signalosome subunit 2 15 15 q21.2 47206834 47235077 - 49417471 49447854 - 6480464 17438371;9535219;7776974;18029348;19535905;18174916;17968325;17929852;17570542;17339334;16344560;15489334;15304329;15173382;15146197;15062575;14647295;12732143;12628923;12615944;12522100;12477932;12220626;11337588;11285227;11114242;10991940;10931946;10713076;10585392;10207062;10087198;9707402;8889548;8125298;18173839;17353931;10903862;18606781;21145461;22013077;16949367;16964240;19615732;16036220;18850735;19141280;10877839;11967155;12466024;22939629;22863883;19268428;20360068;20399188;22414063;17318178;21903422;21987572;21139048;21890473;21906983;16045761;16503656;17356171;22767593;21963094;23000965;23408908;23441852;23275442;16260596;16624822;19295130;22190034;22268729;22505724;22952844 9318 B4DIH5;H0YKU5;H0YM03;H0YMC2;P61201;Q59EL2 AB209799;ABBA01039130;AC013452;AF084260;AF100762;AF120268;AF212227;AK222590;AK295598;AK312643;AMYH01006630;BC012629;BM667648;BX648602;CH471082;CN281648;CN287009;CR542063;DB059510;L40388;NM_001143887;NM_004236 AAC34122;AAC41734;AAD30269;AAD43026;AAH12629;AAK26250;ABZ92273;ACE86472;ACE87153;BAD93036;BAD96310;BAG35527;BAG58487;CAG46860;EAW77364;EAW77365;EAW77366;NP_001137359;NP_004227;P61201 Hs.369614 1738955;2121249;2155120;2160644;5094562 Bdac5a05;D15S856;RH48647;TRIP15_3929;WI-15995 ALIEN;CSN2;SGN2;TRIP15 COP9 constitutive photomorphogenic homolog subunit 2;COP9 signalosome complex subunit 2;JAB1-containing signalosome subunit 2;TR-interacting protein 15;TRIP-15;alien homolog;signalosome subunit 2;thyroid receptor interacting protein 15;thyroid receptor-interacting protein 15 APPROVED protein-coding ENSG00000166200 30747 05146 604508 VALIDATED 7204939 COQ10BP1 coenzyme Q10 homolog B pseudogene 1 10 24949332 24949920 - 100421150 ABBA01034447;AL392104;AMYH01002195;NG_025419 pseudo 44912 INFERRED 7204941 COQ10BP2 coenzyme Q10 homolog B pseudogene 2 5 82575739 82576462 - 100421072 ABBA01062084;AC034211;AMYH01015452;NG_024606 pseudo 44913 INFERRED 1322849 COPS8 COP9 signalosome subunit 8 The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 2 2 q37.3 237658823 237672228 + 237994084 238007489 + 6480464 8689678;18424433;17318178;15489334;15304329;14647295;12732143;12628923;12615944;12477932;12324474;12220626;11567875;11337588;11285227;11032325;10991940;10585392;9707402;9535219;8889549;7634324;18850735;19141280;16964240;17350042;18173839;19615732;20399188;17207965;16036220;11967155;12466024;22863883;22414063;22388932;22939629;18029348;17079684;22767593;19576224;21139048;21890473;21906983;16045761;22318606;10903862;17403899;17609381;18606781;21145461;23086934;23213463;23275442;16260596;19295130;22190034;22505724;22959436;22992343 10920 B8ZZP3;E9PGT6;F8WEF2;H7C3S9;Q99627 AA004869;ABBA01042581;AC105760;AI077560;AI690743;AK289891;AK294078;AK308962;AK313437;AL038738;AMYH01011597;BC003090;BC036499;BC080617;BF979628;BG721393;BQ716842;CH471063;CR456994;NM_006710;NM_198189;U51205 AAB38529;AAH03090;AAH36499;AAH80617;AAY14978;ADQ33162;BAF82580;BAG36228;BAG57420;CAG33275;EAW71097;EAW71098;EAW71099;EAW71100;NP_006701;NP_937832;Q99627 Hs.531713 1652700;1666468;1684772;1704136;1852448;2142009 D2S1655E;RH11779;RH65216;SGC31839;SHGC-79756;STS-W37517 COP9;CSN8;MGC1297;MGC43256;SGN8 COP9 constitutive photomorphogenic homolog subunit 8;COP9 homolog;COP9 signalosome complex subunit 8;JAB1-containing signalosome subunit 8;OTTHUMP00000164415;OTTHUMP00000202909;OTTHUMP00000202910;OTTHUMP00000202913;hCOP9;signalosome subunit 8 APPROVED protein-coding 24335 16737 REVIEWED 1315851 COPZ2 coatomer protein complex, subunit zeta 2 This gene encodes a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. This gene is similar to a related family member, and the two encoded proteins form distinct isotypes of the coatomer protein complex. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42556353 42567971 - 43458532 43470151 - 46103533 46115152 - 1580863;6480464 11056392;19167404;15489334;14729954;12477932;10982407;8940050;10921873;21746916;22949513 51226 J3KRJ9;J3QL73;J3QLS7;J3QQQ5;J3QS21;Q9P299 AB037938;AB047849;ABBA01041151;AC004477;AMYH01008451;BC015924;BQ576336;CH471109;NM_016429 AAH15924;ABM83979;ABM87300;BAA90670;BAB17660;EAW94769;NP_057513;Q9P299 Hs.408434 1677756;2110329 COPZ2_9687;RH93052 MGC23008 coatomer subunit zeta-2;nonclathrin coat protein zeta-COP;zeta-2 COP;zeta-2 coat protein;zeta-2-coat protein;zeta2-COP APPROVED protein-coding ENSG00000005243 19356 16739 REVIEWED 1315805 COPS7B COP9 signalosome subunit 7B 2 2 2 q37.1 226427678 226449946 + 232359406 232381678 + 232651162 232673434 + 1580863;6480464 18391951;15489334;14702039;12732143;12628923;12477932;12220626;12020345;11337588;11285227;9707402;8125298;18606781;21145461;22414063;16949367;16964240;19615732;18850735;19141280;22863883;23275442;21832049;22939629;17079684;19322201;18029348;20399188;20360068;21139048;21890473;21906983;21963094;16624822;19295130;22053931;22505724 64708 J3KQ34;J3KQ41;J3KQV6;J3QT43;J3QT50;J3QT65;J3QT66;J3QT67;J3QT69;J3QT73;J3QT95;Q9H9Q2 ABBA01002038;AC073476;AK022674;AK024273;AK098334;AK124133;AK126326;AK222879;AK307486;AMYH01011561;BC010739;BC091493;CH471063;NM_022730 AAH10739;AAH91493;AAY24152;BAB14170;BAB14868;BAC86526;BAD96599;BAG53614;BAG54013;EAW70979;EAW70980;EAW70981;EAW70982;NP_073567;Q9H9Q2 Hs.335061 1749405;1795614;2113926;2143046;2161397;5014051;5015619;5037552 AB060239;COPS7B_1453;D11S3114;D8S2278;D8S2279;RH45929;RH47930;SHGC-111146 CSN7B;FLJ12612;MGC111077 COP9 constitutive photomorphogenic homolog subunit 7B;COP9 signalosome complex subunit 7b;JAB1-containing signalosome subunit 7b;OTTHUMP00000164300;OTTHUMP00000164301;OTTHUMP00000204226;OTTHUMP00000204231;OTTHUMP00000204232;OTTHUMP00000204237;SGN7b;signalosome subunit 7b APPROVED protein-coding ENSG00000144524 16760 09889 PROVISIONAL 1602309 COQ10A coenzyme Q10 homolog A (S. cerevisiae) 12 12 12 q13.3 56313423 56317531 + 54946909 54951017 + 56660642 56664750 + 6480464 16344560;15489334;14702039;12975309;12477932;20877624;19891963;21458815;21640350;22318606;22645453 93058 H0YHF1;H0YHW3;Q96MF6 ABBA01008416;AC073896;AK057003;AK057014;AMYH01004503;AY358861;BC002435;BC026922;BC047444;BC073923;CH471054;CS300593;DB271789;NM_001099337;NM_144576 AAH02435;AAH26922;AAH47444;AAH73923;AAQ89220;BAB71339;BAB71344;CAK32257;EAW96920;EAW96921;EAW96922;NP_001092807;NP_653177;Q96MF6 Hs.4096 1655070;1662181;1668732;2136690 RH44687;RH44719;SHGC-33516;SHGC-33682 FLJ32452 OTTHUMP00000243417;OTTHUMP00000243418;OTTHUMP00000243419;OTTHUMP00000244001;coenzyme Q-binding protein COQ10 homolog A, mitochondrial protein-coding ENSG00000135469 26515 08726 VALIDATED 1603662 COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009] 4 4 q21.23 84404001 84424988 - 84184977 84206067 - 6480464;6907045;7240710 15153069;17855635;17376224;17374725;17332895;16873928;16643834;16400613;15905035;15489334;12477932;10737800;22490322;14702039;17510911;18230681;19096106;20507940;20877624;21890473;21906983;23758206 27235 E2QRG7;E7EPM7;H0YAI0;Q96H96 ABBA01063462;ABBA01063463;AC114781;AF091086;AJ621061;AK023076;AK129583;AK300972;AMYH01014359;BC008804;BC020728;BC116454;BG699931;BM126596;BQ363759;CH471057;CR456860;NG_015825;NM_015697 AAC72955;AAH08804;AAH20728;AAI16455;ABM86854;ABW03831;BAG62595;CAF18241;CAG33141;EAX05927;EAX05928;EAX05929;EAX05930;NP_056512;Q96H96 Hs.144304;Hs.729069 2144865 STS-N34312 CL640;COQ10D1;FLJ13014;FLJ26072;MSA1 4-hydroxybenzoate polyprenyltransferase;4-hydroxybenzoate polyprenyltransferase, mitochondrial;COQ2 homolog;OTTHUMP00000219346;OTTHUMP00000219805;OTTHUMP00000219806;OTTHUMP00000219807;PHB:polyprenyltransferase;coenzyme Q2 homolog, prenyltransferase;hCOQ2;para-hydroxybenzoate--polyprenyltransferase;para-hydroxybenzoate--polyprenyltransferase, mitochondrial;para-hydroxybenzoate-polyprenyltransferase, mitochondrial APPROVED protein-coding ENSG00000173085 25223 13062 146500;607426;609825 REVIEWED 1314607 COPZ1 coatomer protein complex, subunit zeta 1 This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 12 12 12 q13.2-q13.3 54370906 54397483 + 53005178 53031900 + 54718911 54745633 + 6480464 16956762;11056392;11031247;11030615;8533093;8599108;15489334;12477932;11042152;10810093;8125298;9482852;14729954;8858162;17207965;21832049;22939629;22863883;21746916;18781797;20360068;21139048;21890473;21906983;21963094;23000965;23263863;9472029;12893528;17360540;18356299;19167404;8276893;9751720;22053931;22505724;16344560;16712791;22139419 22818 B4DDX8;B4DHZ0;F8VS17;F8VUC5;F8VVA7;F8VWL5;F8VXB1;F8VXR1;F8VYE0;F8VYK5;F8VYZ4;F8W156;F8W651;P61923 AB047848;ABBA01008370;ABBA01008371;AC078778;AF086911;AF151878;AF161529;AK025956;AK026190;AK223188;AK293377;AK295325;AK311027;AMYH01004488;BC002849;CA431603;CB127540;CH471054;DA562746;NM_001271734;NM_001271735;NM_001271736;NM_016057;NR_073424 AAD34115;AAF29144;AAH02849;AAP97141;ADQ32844;BAB17659;BAD96908;BAG56889;BAG58302;EAW96774;EAW96775;NP_001258663;NP_001258664;NP_001258665;NP_057141;P61923 Hs.505652 1662603;1684858;1774401;2145636;2147512;2170589;2179975;2218412 A002C47;Bdya3g12;COPZ1_4616;D12S1927;G19978;NIB1371;RH78595;WI-12593 CGI-120;COPZ;HSPC181;zeta-COP;zeta1-COP OTTHUMP00000242018;OTTHUMP00000242019;OTTHUMP00000242021;OTTHUMP00000242022;OTTHUMP00000242023;OTTHUMP00000242025;OTTHUMP00000242026;OTTHUMP00000242244;coatomer subunit zeta-1;zeta-1 COP;zeta-1-coat protein protein-coding ENSG00000111481 2243 16738 REVIEWED 1604595 COQ10B coenzyme Q10 homolog B (S. cerevisiae) 2 2 2 q33.1 192074111 192095724 + 198026476 198048096 + 198318231 198339851 + 6480464 15489334;14702039;12477932;17207965;20877624;19322201;21890473 80219 B7Z1Y4;B8ZZV9;B8ZZX2;Q9H8M1 ABBA01062477;ABBA01062478;ABBA01062479;AC010746;AK023510;AK294093;AK308977;AMYH01011388;BC022453;CH471063;NM_025147 AAH22453;ADQ32649;BAB14593;BAH11670;EAW70147;NP_079423;Q9H8M1 Hs.606592 FLJ13448 OTTHUMP00000163623;OTTHUMP00000205703;OTTHUMP00000205704;coenzyme Q-binding protein COQ10 homolog B, mitochondrial protein-coding ENSG00000115520 25819 08582 PROVISIONAL 1347529 CORD1 cone rod dystrophy 1 (autosomal dominant) 7240710 1867279 1319 2245 1342626 CORD4 cone rod dystrophy 4 8508343 1321 2247 1345844 CORD5 cone rod dystrophy 5 7240710 8586428 1322 2248 600977 1352709 CORD7 cone rod dystrophy 7 7240710 9634506 1324 2250 603649 1347512 CORD8 cone rod dystrophy 8 7240710 54109 1340905 D1S2635 2251 1350915 CORD9 cone rod dystrophy 9 7240710 60424 15969 612775 732708 COQ3 coenzyme Q3 homolog, methyltransferase (S. cerevisiae) Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008] 6 6 6 q16.2 100461523 100486230 - 99924069 99948803 - 99817348 99842082 - 1580863;6480464;6907045 10777520;19161160;15489334;14702039;12477932;11230166;17207965;20877624;16712791 51805 Q5T063;Q9NZJ6 ABBA01014483;AF193016;AF351615;AK056955;AL136726;AL513550;AMYH01016537;BC001534;BC015634;BC063463;CB128192;CH471051;NM_017421 AAF66826;AAH15634;AAH63463;AAN76515;ADQ32547;BAG51832;CAB66660;EAW48482;NP_059117;Q9NZJ6 Hs.713623 1690354 RH92984 DHHBMT;DHHBMTASE;UG0215E05;bA9819.1 2-polyprenyl-6-hydroxyphenyl methylase;3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase;3-demethylubiquinone-10 3-methyltransferase;DHHB methyltransferase;DHHB-MT;DHHB-MTase;OTTHUMP00000016892;dihydroxyhexaprenylbenzoate methyltransferase;hexaprenyldihydroxybenzoate methyltransferase, mitochondrial;methyltransferase COQ3;polyprenyldihydroxybenzoate methyltransferase APPROVED protein-coding ENSG00000132423 18175 07283 605196 VALIDATED 1604266 COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 12 12 12 q24.31 120575175 120601278 - 119425465 119451347 - 120941082 120966964 - 6480464;6907045 15489334;15342556;14702039;12477932;8125298;20877624;21890473;23028342 84274 B4DP72;F8VP53;F8VVD5;F8VVW7;F8VVX6;Q5HYK3 ABBA01020124;ABBA01020125;ABBA01020126;ABBA01020127;ABBA01020128;AC063943;AK057777;AK222610;AK225242;AK293656;AK298214;AK315681;AMYH01004802;AMYH01004803;BC004916;BC107874;BP307378;BX647562;CH471054;EU700459;NM_032314 AAH04916;AAI07875;ACD75052;BAB71567;BAD96330;BAG38046;BAG57105;BAG60484;CAI46073;EAW98198;EAW98199;NP_115690;Q5HYK3 Hs.17250 1725685;1739805;2132407;2180495 D12S1527;G62046;RH44487;SHGC-64326 MGC104303;MGC4767 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase;2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial;OTTHUMP00000240946;OTTHUMP00000240947;OTTHUMP00000240964;ubiquinone biosynthesis methyltransferase COQ5;ubiquinone biosynthesis methyltransferase COQ5, mitochondrial protein-coding ENSG00000110871 28722 17560 VALIDATED 1312192 COQ4 coenzyme Q4 homolog (S. cerevisiae) Coenzyme Q (CoQ) is a small lipophilic molecule that transports electrons between mitochondrial respiratory chain complexes and functions as a cofactor for mitochondrial enzymes. COQ4 is an enzyme involved in CoQ biosynthesis (Casarin et al., 2008 [PubMed 18474229]).[supplied by OMIM, Aug 2009] 9 9 9 q34.11 101735695 101747255 + 130124636 130136172 + 131084791 131096351 + 1580863;6480464 18474229;16381901;15489336;15489334;12477932;11469793;11256614;11076863;10810093;20877624;22368301;21906983;23251661 51117 Q5T4B9;Q9Y3A0 ABBA01043876;ABBA01043877;AF151850;AK025376;AK126646;AK301333;AK313650;AL359091;AMYH01021743;BC011895;BC036603;CH471090;CX787359;EU216419;EU216420;EU216421;EU216422;EU216423;HC894907;NM_016035 AAD34087;AAH11895;ABW91141;ABW91142;ABW91143;ABW91144;ABW91145;BAG36405;BAG62881;CAL37535;CBN61894;EAW87774;EAW87775;EAW87776;EAW87777;EAW87778;NP_057119;Q9Y3A0 Hs.98541 1697972;2161251;5014563;5015879;5020948;5022463;5022578;5022588;5022651;5037552 D11S2921;D1S1423;D3S1673;D5S1597E;D8S2279;G35510;GDB:314949;L17676;RH102515;WI-11577 CGI-92 OTTHUMP00000022262;coenzyme Q biosynthesis protein 4 homolog;coenzyme q4 homolog (yeast);ubiquinone biosynthesis protein COQ4 homolog, mitochondrial APPROVED protein-coding ENSG00000167113 19693 16741 612898 VALIDATED 737189 COQ7 coenzyme Q7 homolog, ubiquinone (yeast) The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 16 16 p12.3 18986428 18998855 + 19078917 19091417 + 1580863;2313649;6480464;6907045 17130255 10501970;11256614;18927074;16381901;15489336;14702039;12477932;11749961;11511092;11435415;11230166;11076863;10373327;10373325;9452453;9020081;8125298;20800603;20877624;19135146;21890473 10229 H3BP28;H3BS11;H3BSZ3;H3BTN8;I3L1T0;Q99807 ABBA01028256;AC099518;AF032900;AF098948;AF374413;AI279093;AI424412;AK024291;AK225115;AK315470;AL136647;AMYH01007316;BC003185;BC043272;CH471186;NM_001190983;NM_016138;U81276 AAC51120;AAC69451;AAD43648;AAH03185;AAH43272;AAM21346;BAB14876;BAG37856;CAB66582;CAL37929;CAL38398;EAW50268;EAW50269;EAW50270;EAW50271;NP_001177912;NP_057222;Q99807 Hs.157113 1669383;1685459;1776653;1857666;1857668;2218414;5015861;5016352;5037552;5491786;7185938 COQ7;COQ7_4618;D10S16;D16S3009;D8S2279;L30021;RH92994;SHGC-60852;SHGC-61129;SHGC-61450 CAT5;CLK-1;CLK1 COQ7 coenzyme Q, 7 homolog ubiquinone;OTTHUMP00000162157;coenzyme Q biosynthesis protein 7 homolog;placental protein KG-20;timing protein clk-1 homolog;ubiquinone biosynthesis protein COQ7 homolog APPROVED protein-coding ENSG00000167186 2244 03401 601683 REVIEWED 1322454 COQ6 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012] 14 14 14 q24.3 54453591 54466758 + 73486396 73499568 + 74416637 74429815 + 1580863;6480464;6907045 21110914;11256614;15489334;12477932;10810093;8125298;16169070;20877624;21540551;21832049;21890473;21319273 51004 G3V2L5;G3V2W8;G3V3A1;G3V3L0;G3V434;G3V4A6;G3XA86;Q9Y2Z9 ABBA01030739;ABBA01030740;AC005480;AF132944;AK130167;AK222965;AK294370;AK295517;AK296040;AK296386;AK303304;AK303350;AK307306;AK316356;AL521052;AL557147;AMYH01005849;AMYH01005850;BC014181;BC014483;BX248000;BX342249;BX648434;CH471061;HC890003;NG_032805;NM_182476;NM_182480 AAD27719;AAH14181;AAH14483;ABM83561;ABM86799;BAD96685;BAH11748;BAH12093;BAH12244;BAH12338;BAH13935;BAH13947;BAH14727;CAD62332;CBN59492;EAW81146;EAW81147;EAW81148;NP_872282;NP_872286;Q9Y2Z9 Hs.131555 1655211;1690890;2127744;2182893;2187010;5014019 D5S2354;RH70168;RH91551;SGC34610;SHGC-30190;STS-W86375 CGI-10;CGI10;COQ10D6;FLJ51173;FLJ53037;FLJ58904;FLJ79255 OTTHUMP00000245618;OTTHUMP00000245620;coenzyme Q10 monooxygenase 6;coenzyme q6 homolog (yeast);ubiquinone biosynthesis monooxygenase COQ6 APPROVED protein-coding ENSG00000119723 20233 16742 614647;614650 REVIEWED 1603980 COQ9 coenzyme Q9 homolog (S. cerevisiae) This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010] 16 16 16 q21 41982201 41996039 + 56038903 56052680 + 57481337 57495187 + 6480464 10493829;19375058;16303743;15489334;12477932;11230166;11042152;8889548;16169070;17207965;20877624 57017 H3BNT2;H3BPC6;H3BPW3;H3BPY0;H3BRC0;H3BSJ5;H3BVA5;O75208 ABBA01025272;AC004382;AC009052;AF161444;AK075438;AK290627;AK293585;AK295793;AK303527;AL136884;AMYH01007701;BC001478;BC029341;BC054340;BC064946;BM680448;BM712215;BM717991;CH471092;DB513313;DB562540;NG_027696;NM_020312 AAC24313;AAF29004;AAH01478;AAH54340;AAH64946;ACE86989;ACE87678;ADQ32578;BAC11621;BAF83316;BAG57054;BAG58614;BAG64555;CAB66818;EAW82928;EAW82931;NP_064708;O75208 Hs.513632 1683657;2121557;2134463;2158892 Bdac5g11;RH69662;RH78523;SHGC-61053 C16orf49;COQ10D5;DKFZp434K046 ubiquinone biosynthesis protein COQ9, mitochondrial APPROVED protein-coding ENSG00000088682 25302 13157 612837;614654 REVIEWED 1343750 CORIN corin, serine peptidase This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 4 4 p13-p12 47290775 47534816 - 47596018 47840059 - 1581217;1581218;1581219;1580863;1626338;6480464 15191894;15155264;16216958;17485366 10880574;10329693;19326473;18669922;17890485;17660514;17296875;15489334;15192093;14559895;12477932;12154094;11884416;11082206;19913121;20628086;19919978;20802129;20613715;21288900;21216831;20670840;21518754;23372161;22987923;22093942;22318606;22437503;23327554 10699 E7EQE7;J3KR83;J3KR88;J3KR90;Q9Y5Q5 ABBA01014337;AC092597;AC104646;AC107068;AF113248;AF133845;AF521006;AI338960;AI378383;AI872582;AK297675;AK302816;AK304038;AK304466;AMYH01014159;BC110451;BX648285;CH471069;EU326305;NG_032679;NM_001278585;NM_001278586;NM_006587 AAD31850;AAF21966;AAI10452;AAN40016;AAY40917;AAY40991;ACA05911;BAG64015;BAG64949;BAG65281;BAH12647;EAW93038;EAW93039;NP_001265514;NP_001265515;NP_006578;Q9Y5Q5 Hs.518618 1693746;1695886;1696080;1696170;1715475;2117260;5037552 D4S2706;D8S2279;RH120903;SHGC-58819;SHGC-78843;SHGC-79109;SHGC-79160 ATC2;CRN;Lrp4;MGC119742;PEE5;TMPRSS10 OTTHUMP00000125293;OTTHUMP00000218702;OTTHUMP00000218703;OTTHUMP00000218704;OTTHUMP00000218705;OTTHUMP00000218706;atrial natriuretic peptide-converting enzyme;atrial natriuteric peptide-converting enzyme;corin, serine protease;heart specific serine proteinase;heart-specific serine proteinase ATC2;pro-ANP-convertase;pro-ANP-converting enzyme;transmembrane protease serine 10 APPROVED protein-coding ENSG00000145244 19012 05573 605236;614595 REVIEWED 732928 CORO1A coronin, actin binding protein, 1A This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010] 16 16 p11.2 30102427 30107898 + 30194731 30200397 + 1580863;6480464;6907045 7758584;15601263;11094157;9365277;17341475;17442961;12132654;15800061;18836449;18693254;17353931;16467882;16040207;15489334;15203218;14702039;12673016;12477932;10749676;10338208;9778037;1286667;19454722;16344560;21339362;23100250;23522482;16196087;21873980;21139048;21890473;21906983;23182705;21988832;23252456;22505724 11151 H3BNA2;H3BRJ0;H3BRY3;H3BSL1;H3BTU6;H3BU76;P31146 AB209221;ABBA01013099;AC012645;AF495470;AK096332;AK097964;AK123401;AK296207;AK314714;AMYH01007497;BC110374;BC126385;BC126387;CD623635;CH471238;D44497;DA256300;DC408372;GQ214031;NG_023415;NM_001193333;NM_007074;U34690;X89109 AAA77058;AAI10375;AAI26386;AAI26388;AAM18516;ABZ92302;ADR83161;BAA07940;BAC85606;BAD92458;BAG37258;BAG58933;CAA61482;EAW79906;EAW79907;EAW79908;EAW79909;EAW79910;NP_001180262;NP_009005;P31146 Hs.415067 5016698 RH47208 CLABP;CLIPINA;FLJ41407;HCORO1;MGC117380;TACO;p57 OTTHUMP00000163017;clipin-A;coronin, actin binding protein 1a;coronin, actin-binding protein, 1A;coronin, actin-binding, 1A;coronin-1;coronin-1A;coronin-like protein A;coronin-like protein p57;tryptophan aspartate-containing coat protein APPROVED protein-coding ENSG00000102879 2252 05414 605000 REVIEWED 1320210 CORO2A coronin, actin binding protein, 2A This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 71397550 71469269 - 99926294 99994743 - 100883257 100954956 - 1580863;6480464 8985118;16341674;15489334;14527417;12628926;12477932;10231032;8889548;19654210;20526340;21331046;23490283 7464 A8K9S3;Q92828 AB209809;ABBA01042918;ABBA01042919;AK292788;AL137073;AMYH01021560;BC000010;BC011690;BM822208;BM976925;BX648086;CH471105;DB459852;NM_003389;NM_052820;U57057;U57058 AAB47807;AAB47808;AAH00010;AAH11690;ABM82671;ABW03440;BAD93046;BAF85477;EAW58879;EAW58880;EAW58881;NP_003380;NP_438171;Q92828 Hs.113094 1644299;1758701;1786958;1847300;2144346;2169613;2169615;5015961;5020948;5037552 1620;A001T44;D15S1477;D8S2279;G19641;G35510;RH66408;SHGC-144244;SHGC-149194;SHGC-32963 CLIPINB;DKFZp686G19226;IR10;WDR2 OTTHUMP00000021767;OTTHUMP00000021768;WD protein IR10;WD repeat-containing protein 2;WD-repeat protein 2;coronin 2A;coronin, actin-binding protein, 2A;coronin-2A;coronin-like protein B APPROVED protein-coding ENSG00000106789 2255 03695 602159 REVIEWED 1350081 CORS2 cerebello-oculo-renal syndrome 2 7240710 12917796;12908130 373067 20888 603194;608091 736068 CORO1B coronin, actin binding protein, 1B Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008] 11 11 11 q13.2 64538716 64544461 - 66962094 66967839 - 67205518 67211292 - 1580863;6480464 17350576;16027158;15489334;12477932;9915840;9778037;22563075;16344560;22863883;22939629;21139048;21890473;21906983;21044950;22797925 57175 E7EW44;F5H0D2;F5H390;Q9BR76 ABBA01024033;AK000860;AK295782;AK309267;AK315399;AL162072;AMYH01003747;AP003419;BC006449;BI767141;CH471076;DA061767;NM_001018070;NM_020441 AAH06449;ABM84323;ABM87717;BAG37792;BAG58604;CAB82408;EAW74623;EAW74624;EAW74625;EAW74626;NP_001018080;NP_065174;Q9BR76 Hs.6191 5014587 RH35948 CORONIN-2;DKFZp762I166 OTTHUMP00000236823;coronin, actin-binding protein, 1B;coronin-1B APPROVED protein-coding ENSG00000172725 2253 16743 609849 VALIDATED 1352370 CORO2B coronin, actin binding protein, 2B 15 15 15 q23 45798327 45909300 + 66658627 66807199 + 68871308 69020145 + 1580863;6480464 10224093;16344560;15489334;12477932;10231032;16169070;19734545;20379614 10391 Q9UQ03 AB010098;AB023142;ABBA01038775;ABBA01038776;ABBA01038777;ABBA01038778;ABBA01038779;AC090734;AC105014;AI871484;AK124711;AK289678;AMYH01006740;BC026335;BX461395;CH471082;DA128408;DA182763;DA219458;DA291058;NM_001190456;NM_001190457;NM_006091 AAH26335;ABM83020;ABM83285;ABM86492;BAA36341;BAA76769;BAF82367;BAG54076;EAW77822;EAW77823;NP_001177385;NP_001177386;NP_006082;Q9UQ03 Hs.551213 1665263;1687810;1849092;2108737;2119746;2176008 A007L06;CORO2B_9101;D15S1243;RH28501;RH48611;WI-13883 CLIPINC;KIAA0925 OTTHUMP00000164389;clipin C;clipin-C;coronin, actin-binding protein, 2B;coronin, actin-binding, 2B;coronin-2B;coronin-like protein C protein-coding ENSG00000103647 2256 05416 605002 VALIDATED 1352897 COTL1P1 coactosin-like 1 (Dictyostelium) pseudogene 1 17 17 17 p11.2 17696764 17699018 + 16697801 16700276 + 16757176 16759430 + 10615134;10051563 27170 ABBA01009769;AC022596;AMYH01008153;NG_001537 CLPSMCR coactosin-like 1 (Dictyostelium) pseudogene 1 APPROVED pseudo 2086 INFERRED 1345793 COTL1P2 coactosin-like 1 (Dictyostelium) pseudogene 2 17 17 17 p11.1 22071530 22073747 - 20408287 20410665 + 20467777 20469994 + 11997339 347720 ABBA01050440;AC015818;AMYH01008258;NG_002773 CLPSMCR pseudo 24322 INFERRED 1354094 CORO6 coronin 6 17 17 17 q11.2 24802643 24809310 - 24965900 24972620 - 27941774 27948441 - 6480464 16625196;15498874;15489334;14702039;12665801;12477932;10737800 84940 B3KRY9;J3KSS5;J3QLV6;J3QRV4;J3QSC1;K7ERF4;Q6QEF8 ABBA01015012;AC104564;AF193039;AF447884;AF447885;AK027777;AK092430;AK094683;AK096431;AL833952;AMYH01008293;AY545070;BC028205;BC048209;BC064514;BF368858;BI758263;CH471159;NM_032854 AAG22467;AAH64514;AAQ04659;AAQ04660;AAS48630;BAB55360;BAG52551;BAG52911;BAG53288;EAW51204;EAW51205;EAW51206;EAW51207;EAW51208;NP_116243;Q6QEF8 Hs.143046 1680427;1734412;1736694;2174115 D17S1385E;D17S1512E;RH39421;RH46400 FLJ14871 OTTHUMP00000163609;clipin-E;coronin, actin binding protein 6;coronin-6;coronin-like protein E protein-coding ENSG00000167549 21356 08607 VALIDATED 6904359 CORO7-PAM16 CORO7-PAM16 readthrough This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011] 16 p 4390252 4466962 - 12477932;20967262 100529144 I3L167;P57737 ABBA01026770;ABBA01026771;ABBA01026772;ABBA01026773;ABBA01026774;AC012676;AL833954;AMYH01007103;AMYH01007104;BC032732;NM_001201479 NP_001188408 Hs.437957 1334581;2150834 D6S1566;WI-11319 CORO7-PAM16 protein protein-coding ENSG00000103426 44424 VALIDATED 1314425 CORO1C coronin, actin binding protein, 1C This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 12 12 q24.1 107563014 107649424 - 109038885 109125295 - 1580863;6480464 9778037;17274980;15592455;15489334;14702039;12477932;12377779;10828594;10461187;8175911;8125298;20690162;17207965;20678442;19423540;19615732;19651142;19913511;20406964;20438785;22863883;22939629;8889548;23182705;20360068;21139048;21890473;21906983;19322201;21628590;19380743;22505724;22797925;22974233 23603 A7MAP0;A7MAP1;B4E3S0;F8VRE9;F8VSA4;F8VTT6;F8VUX3;F8VV53;F8VVB7;F8W1H8;H0YHL7;Q9ULV4 AB030656;AB209909;ABBA01053127;ABBA01053128;ABBA01053129;ABBA01053130;AC007569;AK023205;AK096363;AK223073;AK297463;AK304839;AK311315;AK316065;AK316504;AL162070;AM849477;AM849478;AMYH01004732;BC002342;BM677390;CH471054;DB450956;NM_001105237;NM_001276471;NM_014325;Z24726 AAH02342;ADQ32418;BAA83077;BAD93146;BAD96793;BAG51168;BAG53274;BAG59885;BAG65582;BAH14436;BAH14875;CAB82406;CAO94662;CAO94663;EAW97826;EAW97827;EAW97828;EAW97829;NP_001098707;NP_001263400;NP_055140;Q9ULV4 Hs.330384 1340483;1674932;1718783;1753143;1774887;2143024 D9S1794;RH123095;SGC32397;SHGC-109998;STS-N68222;WI-20941 HCRNN4 OTTHUMP00000240966;OTTHUMP00000240967;OTTHUMP00000240968;OTTHUMP00000240970;coronin 1C;coronin, actin-binding protein, 1C;coronin-1C;coronin-3 APPROVED protein-coding ENSG00000110880 2254 09244 605269 REVIEWED 1344168 COX11P1 COX11 cytochrome c oxidase assembly homolog (yeast) pseudogene 1 6 6 6 p23-p22 30021124 30021834 + 28522729 28523563 + 28414697 28415407 + 9878253 140468 ABBA01038019;AF044322;AMYH01016190;NG_007347;Z98745 2134381 A004C21 COX11;COX11P APPROVED pseudo 2262 INFERRED 1351326 CORO7 coronin 7 Coronins, such as CORO7, constitute an evolutionarily conserved family of WD-repeat actin-binding proteins. CORO7 plays a role in Golgi complex morphology and function (Rybakin et al., 2004, 2006 [PubMed 15327992] [PubMed 16905771]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 4613451 4675545 - 4344546 4406572 - 4404543 4466962 - 1580863;6480464 18581049;16905771;16344560;15327992;14702039;12477932;8889548;20379614;21130766;22939629;21139048;21890473;21906983;22505724 79585 B3KSY4;E7EP81;I3L0X8;I3L0Z7;I3L1G9;I3L1M1;I3L1T5;I3L1Z1;I3L212;I3L258;I3L2S7;I3L2Y6;I3L351;I3L359;I3L423;I3L426;I3L442;I3L482;I3NI06;P57737 ABBA01026770;ABBA01026771;ABBA01026772;ABBA01026773;ABBA01026774;AC012676;AK025674;AK094596;AK097238;AK126176;AK294045;AK296723;AK296807;AK303353;AK309327;AK309763;AMYH01007103;AMYH01007104;BC117289;BC117291;BM671637;CH471112;DA094935;DR155527;NM_001201472;NM_001201473;NM_024535 AAI17290;AAI17292;ADR83427;BAB15211;BAG52896;BAG53439;BAG57397;BAG59311;BAG59380;BAG64414;EAW85307;EAW85308;EAW85310;NP_001188401;NP_001188402;NP_078811;P57737 Hs.437957;Hs.739021 1334581;1662220;2180176;2186914;5024543;5037552;5491637 Cda1eg08;D1S3690;D6S1566;D8S2279;MARC_3453-3454:996679102:1;RH69410;SHGC-56815 0610011B16Rik;CRN7;FLJ22021;FLJ44188;POD1 70 kDa WD repeat tumor rejection antigen homolog;OTTHUMP00000159839;coronin-7 APPROVED protein-coding ENSG00000262246 26161 07975 611668 VALIDATED 6481261 COX10-AS1 COX10 antisense RNA 1 17 13932609 13972775 - 14702039 100874058 ABBA01055031;ABBA01055032;AC005304;AC005389;AK123100;AMYH01008123;BI760398;NR_049718 Hs.720411 COX10-AS;COX10AS;FLJ41105 APPROVED miscrna ENSG00000236088 38873 VALIDATED 736209 CORT cortistatin This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010] 1 1 p36.22 10432558 10434546 + 10509776 10512060 + 1580863;6480464 12915402;9125122;19086053;18709137;18450367;16043736;14669820;12975309;12684217;12519865;12477932;12161511;11329013;11227737;11011067;10894940;10461921;9205124;8889548;20164562;20398908;23595952 1325 O00230;Q8IUV6 AB000263;ABBA01035603;AF013252;AF086433;AL354956;AMYH01000246;AV750349;AW205880;AY358561;BC040034;BC119724;BC119725;BF590359;CH471130;NM_001302 AAB66895;AAH40034;AAI19725;AAI19726;AAQ89950;BAA19770;EAW71650;NP_001293;O00230 Hs.412311 2218416 CORT_4621 CST-14;CST-17;CST-29 OTTHUMP00000001901;cortistatin;cortistatin-14;cortistatin-17;cortistatin-29;prepro-cortistatin;preprocortistatin APPROVED protein-coding ENSG00000241563 2257 04150 602784 REVIEWED 1313560 COTL1 coactosin-like 1 (Dictyostelium) This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008] 16 16 q24.1 83156703 83209170 - 84599202 84651669 - 1580863;6480464 11583571;11297527;19307756;17070122;16924104;16097034;15583396;15489334;15459340;15333945;15213466;14702039;12665801;12477932;11870627;10051563;9326934;7690594;19807693;19322201;21044950;21047053;22939629;21139048;21853274 23406 H3BT58;Q14019 ABBA01016905;ABBA01016906;ABBA01016907;ABBA01016908;ABBA01016909;ABBA01016910;ABBA01016911;AC022165;AC092145;AK026033;AK093712;AK125645;AK127352;AK315675;AMYH01007869;BC010039;BC010884;BC016702;BC020445;BC042970;BC053682;BT006968;CH471114;L08436;L54057;NM_021149 AAA88022;AAH10039;AAH10884;AAH16702;AAH42970;AAH53682;AAP35614;ACE87075;ADZ15769;BAG38040;EAW95475;EAW95476;EAW95477;NP_066972;Q14019 Hs.289092 1651357;1724067;1731817;1737301;1856119;5015961;5016478;5024756 D15S1477;D16S2644;D16S392;GDB:434012;RH119045;RH48210;RH80030;SHGC-60788 CLP;FLJ43657;MGC19733 OTTHUMP00000174986;coactosin-like protein APPROVED protein-coding ENSG00000103187 18304 09482 606748 REVIEWED 1626594 COX17P1 COX17 cytochrome c oxidase copper chaperone pseudogene 1 13 13 13 q14.13 28120809 28121211 + 45963066 45963257 + 47064992 47065394 + 17672825;10982038 81993 ABBA01050990;AF272832;AL138686;NG_001293 1672530;2118317;2179420 RH67876;STS-W67166;UniSTS:81716 COX17P APPROVED pseudo 24341 INFERRED 1321106 COX10 cytochrome c oxidase assembly homolog 10 (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] 17 17 p12 13913444 14052719 + 13972719 14111996 + 1580863;6480464;6907045 12928484;14607829;17192483;16344560;15489334;15455402;12477932;11959398;10767350;9787083;9403059;9285799;9177788;8889548;8078902;19826901;20049701;20877624;20498629;22832960 1352 B4DFR1;B4DJ50;H7C101;J3KRW4;J3KSJ3;Q12887 ABBA01055032;ABBA01055033;AC005224;AC005389;AK294213;AK295925;AK312718;AMYH01008123;AMYH01008124;AMYH01008125;BC000060;BC006394;BQ184586;BT006985;CH471108;DA200545;NG_008034;NM_001303;U09466;U82004;U82010 AAA21148;AAC51330;AAH00060;AAH06394;AAP35631;ABM84530;ABM85999;BAG35592;BAG57522;BAG58712;EAW89956;EAW89957;NP_001294;Q12887 Hs.462278 1337757;1658470;1712346;1718569;1848946;2107949;2175933;7186700 COX10_8270;D17S922;G31031;G54161;L29898;RH122489;WI-20772 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase;OTTHUMP00000064705;cytochrome c oxidase assembly protein;cytochrome c oxidase subunit X;heme A: farnesyltransferase;heme O synthase;protoheme IX farnesyltransferase, mitochondrial APPROVED protein-coding ENSG00000006695 2260 03673 602125 REVIEWED 1320366 COX11 cytochrome c oxidase assembly homolog 11 (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009] 17 17 17 q22 49491515 49508317 - 50384262 50401053 - 53029259 53046064 - 1580863;1300048;6480464;6907045 9878253;19330027;15489334;12477932;10617659;9110174;8889548;8619474;20601676;20877624;21906983;21988832;22863968 1353 B4DEY8;B4DI26;I3L4E7;Q9Y6N1 ABBA01041284;AC007485;AC090824;AF044321;AI500638;AI828544;AK124809;AK293851;AK295381;AMYH01008487;BC005895;BI598312;BM975167;CH471109;CR541837;NM_001162861;NM_001162862;NM_004375;NR_027941;NR_027942;U79270;W33157 AAB50214;AAD08645;AAH05895;ABM84062;ABM87417;BAG57249;BAG58338;CAG46636;EAW94547;EAW94548;EAW94549;EAW94550;NP_001156333;NP_001156334;NP_004366;Q9Y6N1 Hs.591171 1683199;1684784;2134381;2169245;2218842;5015435;5022578;5121809 A004C21;D1S1423;G33523;RH26130;RH39342;RH78591;TOM1L1__5116;WI-16135 COX11P COX11 cytochrome c oxidase assembly homolog;COX11 homolog, cytochrome c oxidase assembly protein;cytochrome c oxidase assembly protein COX11, mitochondrial;cytochrome c oxidase subunit 11 APPROVED protein-coding ENSG00000166260 2261 04709 603648 REVIEWED 1602844 COX14 cytochrome c oxidase assembly homolog 14 (S. cerevisiae) This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 12 12 12 q13.12 49301386 49309712 + 48792167 48800501 + 50505764 50514240 + 6480464;7240710 15489334;12477932;17207965;20877624;22243966;22356826;15342556;21906983 84987 Q96I36 ABBA01031555;ABBA01031556;AC025154;AC074032;AI208662;AK312180;AMYH01004451;BC007849;BG829783;BP369305;CH471111;DW418935;NG_032155;NM_001257133;NM_001257134;NM_032901 AAH07849;ADQ32419;BAG35113;EAW58130;NP_001244062;NP_001244063;NP_116290;Q96I36 Hs.388645 2177223;2177373 D12S2138;RH47067 C12orf62;MGC14288 COX14 cytochrome c oxidase assembly homolog;OTTHUMP00000242176;OTTHUMP00000242683;cytochrome c oxidase assembly protein C12orf62;cytochrome c oxidase assembly protein COX14;hypothetical protein LOC84987;uncharacterized protein C12orf62 APPROVED protein-coding ENSG00000178449 28216 17495 220110;614478 REVIEWED 1346278 COX20P1 COX20 cytochrome C oxidase assembly factor pseudogene 1 10 q21.3 70392094 70392593 + 100507102;414247 ABBA01019581;AL513534;AMYH01002802;NG_029198 1666558;1721433 G59568;RH48131 FAM36B;bA119F7.2 APPROVED pseudo 31435 INFERRED 6484098 COX20P2 COX20 cytochrome C oxidase assembly factor pseudogene 2 2 q37.1 231822255 231822788 + 100289170 ABBA01050108;AC092534;AMYH01011554;NG_032776 APPROVED pseudo 43772 INFERRED 1323821 COX15 cytochrome c oxidase assembly homolog 15 (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008] 10 10 10 q24 95205889 95229808 - 101461591 101481890 - 101468505 101492423 - 1598467;1598468;1300048;6480464;6907045;7240710 15235026;12474143 9878253;17945021;16344560;15489334;12477932;11248251;2175025;19826901;20049701;20562859;20877624;21906983;22412388;20301352;20301382;20301403;23251661;22939629 1355 Q7KZN9 ABBA01063243;ABBA01063244;AF026850;AF044323;AK291654;AK298864;AL133353;AMYH01002990;BC002382;BC013403;BC078161;BT007129;BX413913;BX537557;CH471066;DB094258;NG_008986;NM_004376;NM_078470 AAD08639;AAD08646;AAH02382;AAH13403;AAH78161;AAP35793;ABM81636;ABM84818;BAF84343;BAG60984;CAD97781;EAW49857;EAW49858;NP_004367;NP_510870;Q7KZN9 Hs.28326 1660215;1675297;1740095;1849297;2167906;5037552 A008T04;D10S1633;D8S2279;RH44559;RH65628;WI-13735 CEMCOX2 COX15 homolog, cytochrome c oxidase assembly protein;OTTHUMP00000020263;OTTHUMP00000020264;cytochrome c oxidase assembly protein COX15 homolog;cytochrome c oxidase subunit 15 APPROVED protein-coding 2263 04707 256000;603646;615119 REVIEWED 1321882 COX16 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) 14 14 14 q24.2 50855976 50890545 - 69862534 69896147 - 70791798 70826448 - 6480464 16341674;15596615;15489334;12477932;11042152;17207965;20877624;16712791 51241 B8XYC5;G3V2U5;Q9P0S2 ABBA01030815;ABBA01030816;AF151037;AF226729;AK290743;AL356804;AMYH01005828;AW088547;BC001702;BM799209;CB156527;CH471061;CR457199;FJ460510;FJ460511;NM_001204090;NM_016468 AAF36123;AAG09730;AAH01702;ACJ76681;ACJ76682;ADQ33208;BAF83432;CAG33480;EAW81031;NP_001191019;NP_057552;Q9P0S2 Hs.709581 1704276;1708014;1753471;1855723;2123464;2150706;5014051 D8S2278;RH69583;SHGC-107433;SHGC-32255;SHGC-81353;SHGC-83277;WI-14865 C14orf112;HSPC203 OTTHUMP00000245524;cytochrome c oxidase assembly factor;cytochrome c oxidase assembly protein COX16 homolog, mitochondrial protein-coding ENSG00000133983 20213 16591 VALIDATED 1344638 COX4I1P1 cytochrome c oxidase subunit IV isoform 1 pseudogene 1 14 14 14 q23.2 42348914 42349597 - 61368332 61368840 - 62298457 62299140 - 122867 ABBA01018304;AL137918;AMYH01005778;NG_017086 COX4L1;COX4P1 pseudo 2266 INFERRED 3340338 COX4I1P2 cytochrome c oxidase subunit IV isoform 1 pseudogene 2 13 13 13 q14.13 27300644 27301190 + 45142805 45144531 + 46245980 46246526 + 652170 ABBA01050980;AL139320;AMYH01005092;NG_011339 pseudo 38036 INFERRED 733581 COX17 COX17 cytochrome c oxidase copper chaperone Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008] 3 3 q13.33 120871062 120878933 - 119388372 119396243 - 1580863;1300048;6480464;6907045 9050918;18458339;17672825;17208454;16806233;16520371;16189514;16169070;15893662;15504366;15489334;14702039;14612491;12477932;11170391;11054125;11027508;10982038;21816817;19393246;17207965;20877624;22356826;21988832 10063 C9J8T6;H7C4E5;H7C5P5;Q14061 ABBA01061580;AC023494;AF269243;AF269244;AF269245;AK054900;AK095366;AK312143;AMYH01013419;BC010933;BC105280;BC108317;CH471052;L77701;NM_005694 AAA98114;AAF82569;AAH10933;AAI05281;AAI08318;ADQ32807;BAG35079;EAW79545;EAW79547;EAW79548;EAW79550;EAW79551;NP_005685;Q14061 Hs.534383 1672530;2118317;2179420 RH67876;STS-W67166;UniSTS:81716 MGC104397;MGC117386 COX17 cytochrome c oxidase assembly homolog;OTTHUMP00000215283;OTTHUMP00000215284;OTTHUMP00000215285;cytochrome c oxidase 17 copper chaperone;cytochrome c oxidase assembly homolog 17;cytochrome c oxidase copper chaperone;cytochrome c oxidase, subunit xvii assembly protein homolog (yeast);human homolog of yeast mitochondrial copper recruitment APPROVED protein-coding 2264 05314 604813 REVIEWED 1353592 COX5AP1 cytochrome c oxidase subunit Va pseudogene 1 14 14 14 q22 35756642 35757360 - 54777093 54777541 - 55707157 55707875 - 10072584 9385 ABBA01018204;AF042162;AL158801;AMYH01005744;NG_001220 1767993;2170373 SHGC-35356;STS-AA040864 pseudo 2268 INFERRED 1319259 COX20 COX20 cytochrome C oxidase assembly factor 1 1 1 q44 218288590 218298310 + 243065262 243074982 + 244998639 245008359 + 737633;6480464 12477932 16710414;15489334;14702039;8889548;20877624;18029348;22356826;21139048;21890473;23000965;23125284;22678713 116228 B3KM21;Q5RI15 ABBA01047189;AF086182;AK000866;AK125259;AK130498;AK300760;AL122072;AMYH01001897;BC018519;BC062419;BC064399;BC095486;BG708903;BU732247;BX323046;CH471148;NM_198076 AAH18519;AAH62419;AAH95486;BAG50833;BAG54176;BAG62426;EAW77120;EAW77121;EAW77122;EAW77123;EAW77124;NP_932342;Q5RI15 Hs.411490 1649893;1666558;1675561;1687085;1721433 G59568;RH48131;RH91550;RH93746;SHGC-76622 FAM36A;FLJ43269 COX20 Cox2 chaperone homolog;OTTHUMP00000038200;OTTHUMP00000038201;cytochrome c oxidase protein 20 homolog;family with sequence similarity 36, member A;hypothetical protein LOC116228;protein FAM36A APPROVED protein-coding ENSG00000203667 26970 13307 614698 VALIDATED 1604709 COX18 COX18 cytochrome C oxidase assembly factor COX18 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox18 protein catalyzes the insertion of the Cox2 (MTCO2; MIM 516040) C-terminal tail into the mitochondrial inner membrane, an intermediate step in the assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008] 4 4 4 q13.3 71276493 71291542 - 74139280 74154336 - 73920416 73935472 - 6480464 16911509;16212937;15489334;14702039;12477932;21546767;20819778;20877624;19373256;20200953;20379614 285521 B7ZL88;Q8N8Q8 ABBA01022984;AC095053;AK092641;AK096310;AM055750;AM055751;AM055752;AMYH01014296;AY957564;AY957565;BC071812;BC101684;BC143642;CH471057;NM_173827 AAH71812;AAI01685;AAI43643;AAY35060;AAY35061;BAC04758;CAJ20055;CAJ20056;CAJ20057;EAX05653;NP_776188;Q8N8Q8 Hs.356697 2129444;2170934;2178144;5016596;5020635;5020740;5020946;5022651;5037552;5109281 D11S2921;D1S1425;D7S3207;D8S2279;G16832;GDB:631802;L17809;L17971;SHGC-50750;STS-R43034 COX18HS;FLJ38991;MGC126733 COX18 cytochrome c oxidase assembly homolog;Cox18Hs1 protein;Cox18Hs2 protein;Cox18Hs3 protein;OTTHUMP00000160366;OTTHUMP00000219030;cytochrome c oxidase assembly homolog 18;cytochrome c oxidase assembly protein 18;mitochondrial COX18;mitochondrial inner membrane protein COX18 APPROVED protein-coding 26801 08249 610428 VALIDATED 1350345 COX5AP2 cytochrome c oxidase subunit Va pseudogene 2 14 14 14 q22.1 32451471 32452047 + 51653969 51654739 + 52584319 52584895 + 319087 ABBA01018162;AL118557;AMYH01005729;NG_002477 pseudo 20005 INFERRED 1347957 COX5BP1 cytochrome c oxidase subunit Vb pseudogene 1 4 4 4 q21.3 80134096 80134596 - 83059999 83060664 - 82841075 82841553 - 9847074;1646156 1330 ABBA01063421;AC021863;AMYH01014351;NG_003010 COX5BL1 APPROVED pseudo 2270 INFERRED 1344627 COX5BP2 cytochrome c oxidase subunit Vb pseudogene 2 6 q23.3 136355653 136356024 - 1331 ABBA01025833;AL512290;AMYH01016696;NG_028814 COX5BL2 APPROVED pseudo 2271 INFERRED 1353209 COX5BP3 cytochrome c oxidase subunit Vb pseudogene 3 7 q33 133412033 133412521 - 1332 AACC02000027;ABBA01001102;AC007790;AMYH01017951;CH236950;NG_028677 COX5BL3 APPROVED pseudo 2272 INFERRED 1349774 COX5BP4 cytochrome c oxidase subunit Vb pseudogene 4 11 q 82817530 82818025 - 1333 ABBA01017367;AMYH01003839;AP001767;NG_028804 COX5BL4 APPROVED pseudo 2273 INFERRED 1346297 COX5BP5 cytochrome c oxidase subunit Vb pseudogene 5 12 12 q13.12 48898464 48898844 + 50102785 50103247 + 100288440 ABBA01031530;AC020612;AMYH01004445;NG_028197 COX5BL5 APPROVED pseudo 2274 INFERRED 1342750 COX5BP6 cytochrome c oxidase subunit Vb pseudogene 6 13 q32.3 101275916 101276275 + 101234262 AL359085;NG_033121 COX5BL6;FLJ22153 APPROVED pseudo ENSG00000237082 2275 INFERRED 1351554 COX5BP7 cytochrome c oxidase subunit Vb pseudogene 7 22 22 22 q13.1 23318226 23318613 - 37846137 37846524 - 39516091 39516678 - 1336 ABBA01055551;AL031846;AMYH01012773;NG_002633 COX5BL7 APPROVED pseudo 2276 INFERRED 5684569 COX5BP8 cytochrome c oxidase subunit Vb pseudogene 8 1 q25.2 179224868 179225216 + 100859925 ABBA01027817;AL512326;AMYH01001530;NG_031947 pseudo 39083 INFERRED 1346319 COX6A1P1 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1 1 1 1 p31.1 79200704 79201239 + 80734245 80734506 + 80961574 80962107 + 10773445;9284905;9177785 1338 ABBA01074364;AL596276;AMYH01000733;NG_001105;U82486 2144902;2175991 D1S3336;STS-X15341 COX6A1P APPROVED pseudo 2278 INFERRED 2306589 COX6A1P2 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2 6 6 6 p21.2 38567661 38568208 + 37120488 37121235 + 37012607 37013158 + 9284905;9202413 285849 Q5T8I0 ABBA01038270;AL160264;AMYH01016278;NG_004806 2144902;2175991 D1S3336;STS-X15341 pseudo 35239 INFERRED 3077623 COX6A1P3 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3 6 6 q22.31 121847045 121847493 + 121102334 121102782 + 100287768 ABBA01026006;AL357513;AMYH01016628;NG_016160 pseudo 37633 INFERRED 735839 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008] 20 20 q11.21 29689352 29696461 + 30225691 30232800 + 68709;1580863;1300048;2301376;6480464;6907045;7240710 11311561;18725894 11911854;19268275;17937768;17418790;15489334;12477932;11780052;11737208;10683230;8765469;6246917;6088481;2986725;2153405;1309738;19064571;20877624;21832049;23303788 84701 H6SG14;Q96KJ9 ABBA01019301;ABBA01019302;AF257180;AL117381;AMYH01011830;AY219183;BC057779;CH471077;HE647859;NG_012180;NM_032609 AAH57779;AAK49333;CCF23107;EAW76431;NP_115998;Q96KJ9 Hs.277101 COX4;COX4-2;COX4B;COX4L2;COXIV-2;dJ857M17.2 COX IV-2;OTTHUMP00000030533;cytochrome c oxidase subunit 4 isoform 2, mitochondrial;cytochrome c oxidase subunit IV-like 2 APPROVED protein-coding ENSG00000131055 16232 12143 607976;612714 REVIEWED 1604553 COX19 cytochrome c oxidase assembly homolog 19 (S. cerevisiae) COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008] 7 7 7 p22.3 972231 982979 - 971012 981761 - 1004486 1015235 - 6480464 16344560;16212937;15596615;15489334;14702039;12477932;18029348 90639 F8WEL9;Q49B96 AA437231;AACC02000129;ABBA01039313;ABBA01039314;AC073957;AK023185;AMYH01016946;AY957566;BC042434;BC053372;BC058158;BC070383;BC103632;BC110420;CH236965;CH471144;DB077585;NM_001031617 AAH70383;AAI03633;AAI10421;AAY35062;EAW87185;NP_001026788;Q49B96 Hs.121593 1656799;2166334 RH78402;SHGC-30563 MGC104475 COX19 cytochrome c oxidase assembly homolog;OTTHUMP00000200080;cytochrome c oxidase assembly protein COX19;hCOX19 APPROVED protein-coding 28074 610429 VALIDATED 732301 COX5A cytochrome c oxidase subunit Va Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 52162990 52180882 - 72999672 73017425 - 75212616 75230495 - 1580863;6480464;6907045 2853101;18197981;14607829;12477932;10072584;8313870;7498159;16169070;17353931;21490707;19834492;20307258;15101818;20877624;22748147;17500595;22939629;21139048;21890473;22190034;22419111 9377 H3BNX8;H3BRI0;H3BRM5;H3BV69;P20674 ABBA01060508;ABBA01060509;ABBA01060510;AC125435;AF067635;AI815421;AK026615;AK026623;AMYH01006796;AMYH01006797;BC024240;CH471136;CR407649;DQ987236;DQ987237;M22760;NM_004255 AAA99220;AAC73060;AAH24240;ABK92283;ABK92284;ABM84510;ABM87831;CAG28577;EAW99287;EAW99288;NP_004246;P20674 Hs.401903 1767993;2170373;5124097;5127476 RH68089;RH78933;SHGC-35356;STS-AA040864 COX;COX-VA;VA OTTHUMP00000183486;cytochrome c oxidase polypeptide Va;cytochrome c oxidase polypeptide, mitochondrial;cytochrome c oxidase subunit 5A, mitochondrial;cytochrome c oxidase, subunit va;mitochondrial cytochrome c oxidase subunit Va APPROVED protein-coding 2267 04799 603773 REVIEWED 1352312 COX6B1P2 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2 17 17 17 q21.32 43245156 43245377 + 44146085 44146229 + 46791009 46791230 + 1651884;1651883 1342 ABBA01041174;AC091179;AMYH01008456;M38260;NG_005205 COX6BP-2;COX6BP2 APPROVED pseudo 2282 INFERRED 1351404 COX6B1P1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 1 7 7 7 q36.1 143420761 143421201 + 148381651 148382366 + 148750959 148751399 + 1651884;1651883 140603 AACC02000041;ABBA01033612;AC093743;AMYH01018116;M38259;NG_007348 1678447 RH91816 COX6BP-1;COX6BP1 APPROVED pseudo 2281 INFERRED 1346692 COX6B1P4 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 4 8 8 p21.2 25656453 25656718 - 26693500 26693765 - 1651883;1651884;1651883;1651884 100462850 ABBA01005578;AC091675;AMYH01018593;NG_026013;NG_029395 COX6BP4 APPROVED pseudo 2284 INFERRED 3436160 COX6B1P5 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5 4 4 p16.3 2148326 2155984 + 2235978 2243636 + 100289662 ABBA01029517;AL158068;AMYH01013874;NG_016561 1699668;1850015;2130651;2141370;7184652 D4S43;RH103438;SHGC-24794;SHGC-50550;SHGC-59813 pseudo 37675 INFERRED 1344500 COX6B1P3 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3 22 22 22 q13.2 24768865 24769357 + 39295139 39295631 + 40965193 40965685 + 1651884 1343 ABBA01055606;AL031594;AMYH01012791;M38261;NG_005206 1338228 D22S534 COX6BP-3;COX6BP3 APPROVED pseudo 2283 INFERRED 3051012 COX6B1P6 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6 8 8 87030587 87030875 - 90835770 90836058 - 100462851 ABBA01037400;AF117829;AMYH01018872;NG_022396 pseudo 37676 INFERRED 68539 COX4I1 cytochrome c oxidase subunit IV isoform 1 Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. [provided by RefSeq, Jul 2008] 16 16 q24.1 84390697 84398109 + 85833173 85840608 + 1580863;1300048;2301376;6480464;6907045 18725894 2157630;17353931;18029348;17418790;15489334;14607829;12477932;11311561;10878243;10337626;8619474;8223633;2444497;2162812;1319058;1311608;20307258;19843159;20877624;16344560;21771582;21802404;21939634;21978537;22079200;21832049;20186120;21841246;20972266;21139048;21890473;21906983;23400010;23285255;19726511;22190034;22419111 1327 H3BN72;H3BNI5;H3BNV9;H3BPG0;H3BPR4;P13073;Q86WV2 ABBA01034279;AC018695;AF005889;AF017115;AK027136;AK311847;AMYH01007889;BC008704;BC021236;BC039013;BC047869;BC062437;BT019825;BU599266;CH471114;DA623889;M21575;M34600;NM_001861;U90915;X54802 AAA52059;AAA99312;AAB51058;AAB94819;AAC99578;AAH08704;AAH21236;AAH47869;AAH62437;AAV38628;ABM84088;ABM87458;BAG34789;CAA38573;EAW95436;EAW95437;EAW95438;NP_001852;P13073 Hs.433419 1685526;1792816;5014023;5015619;5016378;5037552 D11S3114;D13S1553;D8S2279;PMC164701P1;RH41774;RH66835 COX4;COX4-1;COXIV;FLJ23483;MGC72016 COX IV-1;OTTHUMP00000175004;cytochrome c oxidase polypeptide IV;cytochrome c oxidase subunit 4 isoform 1, mitochondrial;cytochrome c oxidase, subunit 4a APPROVED protein-coding ENSG00000131143 2265 00466 123864 REVIEWED 3207451 COX6B1P7 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7 1 1 1 p31.3 67038668 67038920 + 68520639 68520894 + 68748051 68748303 + 100133210 ABBA01074508;AMYH01000692;BX284678;NG_022782 pseudo 37677 INFERRED 1343648 COX6CP1 cytochrome c oxidase subunit VIc pseudogene 1 16 16 16 p12 12171984 12172376 - 11905281 11905495 - 11997658 11998050 - 10072584 9384 ABBA01006836;AC007216;AF042163;AMYH01007162;NG_001219 pseudo 2286 INFERRED 1352296 COX6CP2 cytochrome c oxidase subunit VIc pseudogene 2 20 20 20 q13.13 45800519 45800908 + 48529611 48530035 + 49096253 49096642 + 170504 ABBA01052781;AL034429;AMYH01011973;NG_001033 dJ894K16.1 pseudo 16600 INFERRED 5130647 COX6CP3 cytochrome c oxidase subunit VIc pseudogene 3 18 18 18 p11.32 1051265 1051687 - 1166786 1167013 - 1176651 1177073 - 100130247 ABBA01049825;AMYH01008775;AP000829;NG_012734 pseudo 31721 INFERRED 2312707 COX6CP4 cytochrome c oxidase subunit VIc pseudogene 4 15 15 15 q14 13624232 13624611 + 36864186 36864413 + 36864131 36864510 + 100288892 ABBA01038497;AC103988;AMYH01006547;NG_012732 pseudo 32374 INFERRED 6480188 COX6CP5 cytochrome c oxidase subunit VIc pseudogene 5 11 p15.4 7999043 7999252 + 100862855 ABBA01028684;AC116456;AMYH01003373;NG_032147 pseudo 42791 INFERRED 1349779 COX6B2 cytochrome c oxidase subunit VIb polypeptide 2 (testis) 19 19 19 q13.42 52902036 52907148 - 60552882 60557994 - 55861070 55866182 - 737633;6480464;6907045 12477932 12874793;15489334;14702039;2172092;17207965 125965 Q6YFQ2 ABBA01068105;AC020922;AK057427;AMYH01009992;AY152398;BC026123;BC064548;BC100899;BC100900;BC100901;BC100902;BG717038;CH471135;NM_144613 AAH26123;AAI00900;AAI00901;AAI00902;AAI00903;AAN46751;ADQ33087;BAB71481;EAW72367;EAW72368;NP_653214;Q6YFQ2 Hs.550544 5015619;5015861;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279 COXVIB2;CT59;FLJ46422;MGC119094 COX VIb-2;cancer/testis antigen 59;cytochrome c oxidase subunit 6B2;cytochrome c oxidase subunit VIb, testes specific;cytochrome c oxidase subunit VIb, testes-specific;cytochrome c oxidase subunit VIb, testis-specific isoform protein-coding ENSG00000160471 24380 13088 VALIDATED 734145 COX5B cytochrome c oxidase subunit Vb Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008] 2 2 q11.2 97628953 97631089 + 98262521 98264657 + 1580863;1300048;2301377;6480464;6907045 16132109 1646156;15489334;12477932;11719263;10915781;9030264;8806766;8313870;2840351;2162812;17353931;19851296;20198315;19834492;20877624;17500595;22939629;16196087;18029348;21139048;21890473;22419111 1329 P10606 ABBA01073975;AC017099;AMYH01010794;BC006229;BT006742;CH471127;CR541727;CR541753;M19961;M59250;NM_001862;U41284 AAA52060;AAA52061;AAB19185;AAH06229;AAP35388;AAY24279;ABM92189;ABW03281;CAG46528;CAG46553;EAX01930;NP_001853;P10606 Hs.1342 1655390;1744031;5122860 GDB:384878;RH11516;RH66826 COXVB OTTHUMP00000161109;cytochrome c oxidase polypeptide VB, mitochondrial;cytochrome c oxidase subunit 5B, mitochondrial APPROVED protein-coding 2269 00467 123866 REVIEWED 735899 COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008] 12 12 q24.2 119360287 119362915 + 120875893 120878545 + 1580863;6480464;6907045 2549515;18549809;16541075;15489334;12477932;10773445;9284905;9202413;9190060;1327966;1286669;19843159;8241294;20307258;20877624;17500595;15342556;18624398;21890473;22419111 1337 H6SG15;P12074 ABBA01020120;AF020589;AK312009;AL021546;AMYH01004800;BC007723;BC070186;BC107861;BP378295;CH471054;HE647860;NM_004373;U83702;X15341 AAC98895;AAD00554;AAH07723;AAH70186;AAI07862;ABM84025;ABM87370;BAG34947;CAA33392;CCF23108;EAW98190;EAW98191;NP_004364;P12074 Hs.369624 2144902;2175991;5107501 D1S3336;G29082;STS-X15341 COX6A;COX6AL;MGC104500 COX VIa-L;OTTHUMP00000045456;cytochrome C oxidase subunit VIa homolog;cytochrome c oxidase polypeptide VIa-liver;cytochrome c oxidase subunit 6A1, mitochondrial;cytochrome c oxidase subunit VIA-liver;cytochrome c oxidase, subunit via, polypeptide 1 APPROVED protein-coding ENSG00000111775 2277 03644 602072 REVIEWED 736247 COX6A2 cytochrome c oxidase subunit VIa polypeptide 2 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008] 16 16 16 p11.12 28868661 28869331 + 31346556 31347222 - 31439052 31439749 - 1580863;1300048;6480464;6907045 9284905;15489334;12477932;9177785;8681137;1327966;8241294;15342556;21832049;22419111 1339 Q02221 ABBA01042093;ABBA01042094;AC026471;AMYH01007508;AMYH01007509;BC029818;BP319904;CH471192;F27891;HE647858;M83308;NM_005205;U66875 AAA52062;AAC51328;AAH29818;ABM84649;ABM92178;CCF23106;EAW52137;EAW52138;NP_005196;Q02221 Hs.250760 2165742 STS-M83308 COX6AH;COXVIAH COX VIa-M;OTTHUMP00000163297;cytochrome c oxidase polypeptide VIa-heart;cytochrome c oxidase subunit 6A2, mitochondrial;cytochrome c oxidase subunit VIA-muscle APPROVED protein-coding ENSG00000156885 2279 03598 602009 REVIEWED 1352739 COX7A2P1 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1 14 14 14 q24.1 48178007 48178407 - 67188599 67189199 - 68118946 68119346 - 9202412;1327965 319098 ABBA01023707;AL049779;AMYH01005816;NG_002479;NG_011964 2174071 A008X14 COX7A3P;COX7AP1 APPROVED pseudo 20006 INFERRED 1347060 COX7A2P2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2 4 4 4 q22.3 95119526 95119948 + 98042975 98043295 + 97823918 97824340 + 15815621;1327965 1348 O60397 ABBA01063645;AC004544;AMYH01014410;NG_004712 AAC12952;O60397 1668562;1678851;2220538;2220666 D4S3276;RH41034;UniSTS:484221;UniSTS:489009 COX7A3;COX7AL;COX7AL2;COX7AP2 APPROVED pseudo 2290 00483 123997 INFERRED 1343507 COX7BP1 cytochrome c oxidase subunit VIIb pseudogene 1 22 22 22 q13 19393090 19393722 - 33920692 33920935 - 35590395 35591025 - 6480464 114657 ABBA01055412;AF042164;AMYH01012740;NG_001300;Z99755 1678077 RH93329 bK714B7.1 pseudo 16529 INFERRED 1343660 COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010] 19 19 q13.1 40830995 40841524 + 36139125 36149686 + 1580863;6480464;6907045;7240710 2172092;18499082;17516841;15489334;15057824;12477932;11943455;7821789;2537962;1651883;1650756;1647217;17353931;18029348;19843159;20877624;17500595;22939629;21963094;23000965;21139048;21890473;21906983;22190034;22419111;22505724 1340 K7EQD3;P14854 ABBA01018751;AC002115;AK312140;AMYH01009728;BC001015;BC002478;BT006945;CR456789;CR542137;D28426;DB443544;NG_012193;NM_001863;X13923;X54473;X58139 AAB57628;AAH01015;AAH02478;AAP35591;ABM84535;ABM86004;BAA05792;BAG35076;CAA32114;CAA38352;CAA41147;CAG33070;CAG46934;NP_001854;P14854 Hs.431668 1678447;2151386;5020298 RH18087;RH91816;SHGC-30021 COX6B;COXG;COXVIb1 COX VIb-1;OTTHUMP00000045788;cytochrome c oxidase subunit 6B1 APPROVED protein-coding ENSG00000126267 2280 00493 124089;220110 REVIEWED 1344114 COX7BP2 cytochrome c oxidase subunit VIIb pseudogene 2 20 20 20 q11.1-q11.23 31186707 31187163 - 33901737 33902394 - 34438423 34438880 - 140692 ABBA01019140;AL078461;AMYH01011876;NG_005370 dJ901O8.2 pseudo 16601 INFERRED 736850 COX6C cytochrome c oxidase subunit VIc Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010] 8 8 8 q22.2 97076023 97092041 - 100959548 100975071 - 100890223 100906242 - 1580863;1300048;6480464;6907045 2849755;17516841;15489334;12477932;10072584;9930743;9752724;8705997;16169070;17353931;19064571;19843159;20877624;17500595;21139048;21906983;21988832;22860893;22419111 1345 P09669 ABBA01037558;AC105328;AF067636;AF067637;AK311791;AMYH01018923;BC000187;BT007007;CH471060;NM_004374;S82616;X13238 AAC73061;AAH00187;AAP35653;ABM87796;ABM92159;ACE87217;BAG34734;CAA31624;EAW91791;EAW91792;EAW91793;NP_004365;P09669 Hs.351875 2123625;2152814 RH79007;STS-N66159 OTTHUMP00000227259;OTTHUMP00000227260;OTTHUMP00000227261;OTTHUMP00000227262;OTTHUMP00000227263;OTTHUMP00000227264;OTTHUMP00000227265;OTTHUMP00000227266;OTTHUMP00000227267;OTTHUMP00000227268;cytochrome c oxidase polypeptide VIc;cytochrome c oxidase subunit 6C;cytochrome c oxidase subunit VIc preprotein APPROVED protein-coding ENSG00000164919 2285 00494 124090 REVIEWED 1348243 COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008] 19 19 q13.1 41333664 41335611 - 36641824 36643771 - 1580863;6480464;6907045 1327965;9344674;18488190;15489334;15057824;12477932;11997101;10335655;9752724;2550906;1309697;19913121;20628086;19843159;20877624;22419111 1346 K7ER11;P24310;Q6FGI7 ABBA01018779;AC002984;AD001527;AF037372;AF127789;AK312091;AMYH01009739;BC002757;BT006924;CR542120;HE647857;M83186;NM_001864;U81524 AAA52166;AAB51184;AAB81547;AAB82735;AAB92616;AAF72747;AAH02757;AAP35570;ABM84472;ABM84736;ABM92252;ABW03614;ABW03615;ABW03616;BAG35027;CAG46917;CCF23105;NP_001855;P24310 Hs.421621 5024636 RH93348 COX7A;COX7AH;COX7AM OTTHUMP00000045828;OTTHUMP00000045829;cytochrome c oxidase subunit 7A1, mitochondrial;cytochrome c oxidase subunit VIIa heart/muscle isoform;cytochrome c oxidase subunit VIIa-H;cytochrome c oxidase subunit VIIa-M;cytochrome c oxidase subunit VIIa-heart;cytochrome c oxidase subunit VIIa-muscle APPROVED protein-coding ENSG00000161281 2287 00481 123995 REVIEWED 1351845 COX7CP1 cytochrome c oxidase subunit VIIc pseudogene 1 13 13 13 q14-q21 30817372 30817762 - 48659616 48659805 - 49761495 49761885 - 10072584 9386 ABBA01051015;AF042165;AL137000;AMYH01005107;NG_001221 1681732 RH69432 pseudo 2293 INFERRED 1354273 COX8BP cytochrome c oxidase subunit VIIIB, pseudogene Cytochrome c oxidase is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 302213 305754 + 243316 247071 - 253417 256972 - 724423;1599987;2301397;6480464 12909344;14618266;16027000 12716970;18085818 404544 ABBA01011167;AC136475;AMYH01003275;NG_003253 2111990;2111992;2173870 D11S4894;D11S4895;STS-T99644 COX8-1;COX8B;COX8H APPROVED pseudo 31395 INFERRED 1342607 COX7A2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009] 6 6 6 q12 76341126 76347377 - 76004223 76010245 - 75947391 75953644 - 1580863;6480464;6907045 15489334;14574404;12477932;11004498;9752724;9202413;9202412;2550906;1327965;1309697;19064571;2159420;16712791;20877624;22354994;22356826;21890473;21906983;21963094;21987572;22365974;22419111 1347 D6R9C3;D6RA35;D6RGV5;D6RIE3;H0UI06;H0Y8S6;P14406 AA978033;ABBA01040356;AF134406;AK312154;AL080250;AMYH01016437;BC100852;BC100853;BC100854;BC101826;BC101828;BC133654;CB139775;CH471051;CK821341;CR407646;CR542125;HE647861;NM_001865;NR_029466;X15822 AAF61396;AAI00853;AAI00854;AAI00855;AAI01827;AAI01829;AAI33655;BAG35088;CAA33820;CAG28574;CAG46922;CCF23109;EAW48746;EAW48747;NP_001856;P14406 Hs.70312 1668562;1678851;2220538;2220666;5126406 D4S3276;RH41034;UniSTS:484221;UniSTS:489009;WI-20346 COX7AL;COX7AL1;COXVIIAL;COXVIIa-L;MGC118950;MGC118951;MGC118952;MGC126875;MGC126877;VIIAL OTTHUMP00000016749;OTTHUMP00000016750;OTTHUMP00000220651;OTTHUMP00000220652;OTTHUMP00000220653;OTTHUMP00000220654;cytochrome c oxidase polypeptide 7A2, mitochondrial;cytochrome c oxidase polypeptide VIIa-liver/heart;cytochrome c oxidase subunit 7A2, mitochondrial;cytochrome c oxidase subunit VIIa-L;cytochrome c oxidase subunit VIIa-liver/heart;cytochrome c oxidase subunit VIIaL;hepatic cytochrome-c oxidase chain VIIa APPROVED protein-coding ENSG00000112695 2288 00482 123996 REVIEWED 1353874 COX7B2 cytochrome c oxidase subunit VIIb2 4 4 4 p12 47185698 47295989 - 46431601 46606009 - 46736844 46911252 - 1580863;6480464;6907045 15623157;15489334;12477932;17207965;19064571;22419111 170712 D6R9N1;Q8TF08 ABBA01014328;ABBA01014329;ABBA01014330;AC107383;AC108931;AF125109;AMYH01014157;AMYH01014158;AMYH01014159;BC035923;BC107855;CH471069;DB447854;NM_130902 AAH35923;AAI07856;AAL75946;ADQ32957;EAW93028;NP_570972;Q8TF08 Hs.479656 1718473;2155607;2218418 COX7B2_4623;D4S346;RH122438 MGC102754 OTTHUMP00000125272;OTTHUMP00000195111;OTTHUMP00000218444;cytochrome c oxidase polypeptide VIIb2;cytochrome c oxidase subunit 7B2, mitochondrial protein-coding ENSG00000170516 24381 13089 609811 VALIDATED 1344241 COX7B cytochrome c oxidase subunit VIIb Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011] X X X q21.1 77395826 77401746 + 77041617 77047537 + 77154961 77160881 + 1580863;6480464;6907045 8382530;15772651;15489334;12477932;9752724;9660196;8781533;3007143;1309697;20307258;21890473;22860893;23455922;23122588;22419111 1349 P24311 ABBA01029590;ABBA01029591;ABBA01029592;AK311879;AL356235;AMYH01022630;BC018386;BT009767;CH471104;CR450332;CR542124;NG_033027;NM_001866;Z14244 AAH18386;AAP88769;ABM92161;ABW03273;BAG34820;CAA78613;CAG29328;CAG46921;EAW98607;NP_001857;P24311 Hs.522699 1678077 RH93329 APLCC OTTHUMP00000024326;cytochrome c oxidase polypeptide VIIb;cytochrome c oxidase subunit 7B, mitochondrial;cytochrome-c oxidase chain VIIb APPROVED protein-coding 2291 04812 300885;300887 REVIEWED 1353652 COX7C cytochrome c oxidase subunit VIIc Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008] 5 5 5 q14 81805741 81808540 + 85949540 85952339 + 85913784 85916583 + 1580863;6480464;6907045 2155413;17516841;15489334;12477932;10072584;9752724;7926688;1309697;21890473;22419111 1350 D6R9Z7;P15954 ABBA01062114;AC108110;AF067638;AF067639;AK026505;AMYH01015468;BC001005;BC007498;BT007098;CH471084;NM_001867;X16560 AAC73062;AAH01005;AAH07498;AAP35762;ABM82281;ABM85462;CAA34559;EAW95922;EAW95923;EAW95924;NP_001858;P15954 Hs.430075 OTTHUMP00000147590;OTTHUMP00000222397;cytochrome c oxidase polypeptide VIIc;cytochrome c oxidase subunit 7C, mitochondrial;cytochrome-c oxidase chain VIIc APPROVED protein-coding 2292 04800 603774 REVIEWED 1314534 COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. [provided by RefSeq, Jul 2008] 2 2 2 p21 42417924 42428640 - 42431146 42441860 - 42577642 42588356 - 1580863;1300048;6480464;6907045 14702039;9418891;16189514;15489334;14562965;12477932;11156535;10335655;8647836;20307258;19064571;19834535;20877624;22939629;21139048;21890473;19322201 9167 E5RFH8;E5RJZ1;H0YBD2;O14548;Q6FGA0 AB007618;AB007620;ABBA01075060;AC006038;AF127788;AK092911;AK130281;AMYH01010286;AY007643;BC005251;BC007095;BT007371;CH471053;CR542208;NM_004718 AAF72746;AAG32129;AAH05251;AAH07095;AAP36035;AAY15087;ABM84655;ABM92183;BAA22571;BAG52628;CAG47004;EAX00320;EAX00321;EAX00322;EAX00323;NP_004709;O14548 Hs.339639;Hs.744101 2158648;2178909 RH35811;WIAF-1562 COX7AR;COX7RP;EB1;SIG81 COX7a-related protein;OTTHUMP00000158765;cytochrome c oxidase subunit 7A-related protein, mitochondrial;cytochrome c oxidase subunit VII-related protein;cytochrome c oxidase subunit VIIa-related protein;estrogen receptor binding CpG island APPROVED protein-coding ENSG00000115944 2289 05774 605771 REVIEWED 1348555 COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008] 11 11 11 q12-q13 61068864 61070800 + 63498655 63500591 + 63742079 63744015 + 1580863;6480464;6907045 2543673;15489334;12909344;12477932;10637443;2847943;20877624;21139048;22419111 1351 P10176;Q53XN1 ABBA01003282;AK311934;AMYH01003699;AP000721;BC000501;BC063025;BT009803;CH471076;CR407687;J04823;NM_004074 AAA99313;AAH63025;AAP88805;BAG34875;CAG28615;EAW74186;NP_004065;P10176 Hs.743989 1665765;1742485;2109183;2168446;2180467 COX8;COX8A_8269;D11S4326;GDB:197529;RH11612 COX;COX8;COX8-2;COX8L;VIII;VIII-L OTTHUMP00000236856;cytochrome c oxidase polypeptide VIII-liver/heart;cytochrome c oxidase subunit 8-2;cytochrome c oxidase subunit 8A (ubiquitous);cytochrome c oxidase subunit 8A, mitochondrial;cytochrome c oxidase subunit VIII APPROVED protein-coding ENSG00000176340 2294 00468 123870 REVIEWED 1344927 COX8C cytochrome c oxidase subunit VIIIC 14 14 14 q32.12 73867551 73868714 + 92883290 92884453 + 93813537 93814700 + 724423;1580863;6480464;6907045 12909344 12762575;15489334;12477932;20877624;22419111 341947 Q7Z4L0 ABBA01030432;AL122023;AMYH01005965;AY161004;BC101125;BC101126;CH471061;NM_182971 AAI01126;AAI01127;AAO26193;EAW81530;NP_892016;Q7Z4L0 Hs.666459 5493097 UniSTS:484220 COX8-3;MGC119774;MGC119775 COX VIII-3;OTTHUMP00000245724;cytochrome c oxidase polypeptide 8;cytochrome c oxidase polypeptide VIII;cytochrome c oxidase subunit 8-3;cytochrome c oxidase subunit 8C, mitochondrial;cytochrome c oxidase subunit VIII APPROVED protein-coding ENSG00000187581 24382 13090 VALIDATED 736782 CP ceruloplasmin (ferroxidase) The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012] 3 3 q23-q25 150373220 150422519 - 148880197 148939832 - 1599626;1599198;1599627;1358523;1580863;2314684;2314686;2314687;2314688;2314689;2314681;2314682;2314685;6480464;6484113;6907045;7240710 7539672;16947119;16671455;7914452;19526092;19205849;19188839;18273071;18210749;19834873;17603912;19298605 7708681;9445478;14718574;19471883;19382692;19228837;19164917;19095659;19031316;19019832;18977241;18952589;18679377;18388036;18311828;18307039;18293024;18200628;18187043;18060472;18022819;17991445;17965133;17688883;17661447;17637479;17601350;17597152;17404760;17032174;17013908;16831606;16775387;16756764;16373913;16335952;16150804;15752613;15741220;15668644;15648851;15557511;15111541;15103512;15084671;14760718;14702039;12952974;12724641;12708132;12575997;12477932;12351628;12177070;12175089;12132593;12107410;12055353;12029093;11908641;11783942;11689010;11681312;11095930;11040994;10666301;10660599;10490627;9788274;9727700;9500710;9360306;9097926;8968753;8789443;8679709;7702601;6987230;6987229;6940148;6582496;6571985;6479854;6337857;3755405;3486416;3474786;2873574;2355023;2332446;463490;146197;15479637;2105310;1463466;20587610;20655381;19821764;21109502;19681912;2154449;20658982;19159062;19585161;19648144;19670106;19916937;19996109;20301666;21314617;20801540;21185807;19850743;21706376;22589738;22923205;22708402;21474797;8889548;22145905;21315066;21901748;23306200;15174051;21988832;22075249;23012398 1356 A5PL27;D6RE86;E9PFZ2;H7C5N5;H7C5R1;P00450 ABBA01058947;AC093001;AC131209;AF132978;AK095290;AK291219;AK299272;AK309279;AMYH01013570;BC039239;BC061702;BC070304;BC094709;BC142714;BC146663;BC146801;BX647327;CA391602;CB321657;CH471052;D00025;D45045;DC334592;DQ314867;EU567149;M13536;M13699;NG_011800;NM_000096;NR_046371;X04135;X04136;X04137;X04138;X69706 AAA51975;AAA51976;AAF02483;AAH70304;AAI42715;AAI46664;ABC40726;ACB21047;BAA00019;BAA08084;BAA08085;BAF83908;BAG53020;BAH12988;CAA27752;CAA27753;CAA27754;CAA27755;EAW78882;EAW78883;EAW78884;NP_000087;P00450 Hs.558314 1741427;1745539;1745541;1745543;1745545;1745547;1745549;1745551;1745553;1745555;1745557;1745559;1745561;1745563;1745565;1745567;1745569;1784908;1849047;2160274;2176521;2219810;5016582;5117831;5491336 CP-000F;D3S3906;GDB:181199;GDB:624419;GDB:624422;GDB:624426;GDB:624429;GDB:624432;GDB:624435;GDB:624438;GDB:624441;GDB:624444;GDB:624447;GDB:624449;GDB:624453;GDB:624457;GDB:624460;GDB:624463;GDB:624466;GDB:624469;GDB:624472;HPS3__6583;SHGC-77441;SHGC-77445;SHGC-84171 CP-2 OTTHUMP00000197026;OTTHUMP00000215840;OTTHUMP00000215841;ceruloplasmin APPROVED protein-coding ENSG00000047457 2295 00317 117700;604290 REVIEWED 733563 CPA1 carboxypeptidase A1 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a monomeric pancreatic exopeptidase involved in zymogen inhibition. [provided by RefSeq, Jan 2009] 7 7 q32 129807591 129815185 + 130020290 130027949 + 1580863;6480464 1417781;2920728;18566513;15489334;12690205;12477932;11920156;8806703;7570003;3455919;2307232;1969228;21098023;17620599;21502183 1357 C9JQ63;C9JUF9;C9JUZ4;P15085 AACC02000033;ABBA01057589;AC007938;AK124421;AK131054;AK291493;AK293366;AMYH01017933;BC005279;BT007313;CH236950;CH471070;NM_001868;X67318 AAH05279;AAP35977;ABM84654;ABM92182;BAF84182;BAG56880;CAA47732;EAL24089;EAW83762;EAW83763;NP_001859;P15085 Hs.2879 2148152;2157758;2159167 CPA1;RH47473;RH47474 CPA OTTHUMP00000212514;OTTHUMP00000212515;OTTHUMP00000212518;pancreatic carboxypeptidase A APPROVED protein-coding ENSG00000091704 2296 00269 114850 REVIEWED 1354386 CPAT1 cerebral palsy, ataxic 1 7240710 10854109 60502 1335654;1337281 D9S167;D9S50 30998 1313664 CPA2 carboxypeptidase A2 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008] 7 7 q32 129693960 129716871 + 129906703 129929638 + 1580863;6480464 2920728;19401682;17196978;15489334;15203218;12948494;12538893;12477932;11743734;10860668;10742178;9450539;9384570;8806703;7896805;19817500;20379614;21098023 1358 J3QT58;P48052 AACC02000033;ABBA01057592;AC024085;AK293378;AMYH01017933;BC007009;BC014571;BC015140;BT007403;BX106544;CD613167;CH236950;CH471070;NM_001869;U19977 AAA74425;AAH07009;AAH14571;AAH15140;AAP36067;ABM84737;BAG56890;EAL24092;EAW83751;NP_001860;P48052 Hs.490038 1336786;5125710;7185189 D7S2544;STS-U19977 OTTHUMP00000211315;carboxypeptidase A2 APPROVED protein-coding ENSG00000158516 2297 02821 600688 REVIEWED 733833 CPA3 carboxypeptidase A3 (mast cell) Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a form which is obtained as a binary complex of a procarboxypeptidase A with proproteinase E and functions as a secretory granule metalloexopeptidase. [provided by RefSeq, Jan 2009] 3 3 q24 150065774 150097552 + 148583043 148614874 + 734812;1580863;6480464;6907045 12552318 2594780;1629626;2708524;18029348;15489334;14760754;12477932;10383164;7929294;2920728;2443571;1729276;19643669 1359 P15088 ABBA01058950;AC092979;AK313628;AMYH01013568;BC012613;BF508919;BG501260;CH471052;DR005288;M27717;M73720;NM_001870;S40234 AAA35652;AAA59568;AAB22578;AAH12613;ABM83731;ABM87051;BAG36388;EAW78902;NP_001861;P15088 Hs.646 1645581;1665335;1743085 G28614;GDB:251824;SHGC-77447 MC-CPA OTTHUMP00000215693;carboxypeptidase a3;mast cell carboxypeptidase A;tissue carboxypeptidase A APPROVED protein-coding ENSG00000163751 2298 00270 114851 REVIEWED 5130804 CPB2-AS1 CPB2 antisense RNA 1 13 13 27730246 27755686 + 46626983 46675482 + 14702039 100509894 ABBA01050982;ABBA01050983;AK095119;AK124928;AL137141;AL157758;AMYH01005093;NG_032893;NR_046226;NR_046227 Hs.626139 1664226;1665153;1719489;1721919;1777842;1788210;1849725;2124089;2177401;5014865;5020948;5022322 D11S2560;D12S1332;D13S1161;G35510;G59992;G67452;RH123464;RH44944;RH78160;SHGC-30919;SHGC-56642;WIAF-1544 APPROVED miscrna 39898 VALIDATED 1345742 CPA4 carboxypeptidase A4 This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008] 7 7 7 q32 124728740 124759787 + 129720230 129751250 + 129932974 129964020 + 1580863;6480464 10383164;19245716;16091843;15489334;12975309;12690205;12676894;12552318;12477932;10860668;15738388;17207965;20385563;22294694;21139048 51200 A4D1M3;B7Z5J4;C9J3P4;C9J6N7;C9J7D6;F8WF19;Q9UI42 AACC02000033;ABBA01057592;AC024085;AF095719;AK290993;AK298550;AK298553;AK299023;AK310933;AMYH01017933;AY358699;BC052289;BI335735;CH236950;CH471070;DC368360;NG_011788;NM_001163446;NM_016352 AAF23230;AAH52289;AAQ89062;ADQ32909;BAF83682;BAH12812;BAH12813;BAH12930;EAL24091;EAW83752;EAW83753;NP_001156918;NP_057436;Q9UI42 Hs.93764 1339753;1698588;1723257;1766157;2110331;5022322;7185483 CPA4_7257;D11S2560;D7S2519;RH102846;RH122316;SHGC-149533 CPA3 OTTHUMP00000212508;OTTHUMP00000212509;carboxypeptidase A3;carboxypeptidase A4 APPROVED protein-coding ENSG00000128510 15740 07405 607635 REVIEWED 1323390 CPA6 carboxypeptidase A6 The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6;8)(q26;q13) involving this gene, have been associated with Duane retraction syndrome.[provided by RefSeq, Sep 2010] 8 8 8 q13.2 64327814 64651850 - 68496962 68821134 - 68334405 68658620 - 1580863;6480464 11836249;18178555;15489334;12477932;12454025;20628086;19913121;19790060;20379614;20855895;23105115;21922598 57094 F8WAH2;Q8N4T0 ABBA01041900;ABBA01041901;ABBA01041902;ABBA01041903;ABBA01041904;ABBA01041905;AC011037;AC022861;AC022874;AC027006;AF221594;AF466284;AMYH01018777;AMYH01018778;AY044833;BC033684;BI756197;BK000188;BP421438;CH471068;NG_027682;NM_020361 AAF91231;AAH33684;AAK84941;AAM19307;ABM82969;ABM86163;DAA00037;EAW86937;EAW86938;EAW86939;NP_065094;Q8N4T0 Hs.658850 1339238;1751971;1760869;2123798;2179262;2217186 CPA6_3041;D8S1840;L17726;SHGC-105958;SHGC-144539;SHGC-31209 CPAH;ETL5;FEB11 OTTHUMP00000226992;OTTHUMP00000227057;carboxypeptidase A6;carboxypeptidase B APPROVED protein-coding ENSG00000165078 17245 09891 609562;614417;614418 REVIEWED 1347044 CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM, Mar 2008] 19 19 19 p13.11 16905293 17039135 - 16864762 16998625 - 17003762 17137625 - 1580863;6480464 19010793;15342556;15177561;14702039;12477932;11696365;10574462;1335692;19913121;20628086;22412388;21139048 27151 F8W7D1;M0QXH3;M0R0Z5;M0R3G7;Q6NVW5;Q8IZJ3 AB033109;ABBA01051174;ABBA01051175;ABBA01051176;ABBA01051177;AC008737;AC020908;AI670110;AK075099;AK092632;AK124052;AMYH01009566;AMYH01009567;AY101765;BC067854;BF726092;BP302427;CA421477;CH471106;NM_015692 AAH67854;AAM50084;BAA86597;BAC11400;EAW84567;EAW84568;EAW84569;NP_056507;Q8IZJ3 Hs.631644;Hs.743609 2110389;2120820;2131199;5109281 D1S1425;D7S2816;F2RL3_2451;G29028 FLJ42058;FLJ90618;K-CAP;KIAA1283;VIP C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8;OTTHUMP00000164832;alpha-2 macroglobulin family protein VIP APPROVED protein-coding ENSG00000160111 23228 09892 608841 VALIDATED 1345322 CPA5 carboxypeptidase A5 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008] 7 7 7 q32 124780394 124804336 + 129771921 129795807 + 129984630 130008571 + 1580863;6480464 16344560;15489334;14702039;12853948;12676894;12477932;11920156;11836249;9546821;17207965 93979 A4D1M2;C9JRV5;C9JZE9;H7C4Q6;Q8WXQ8 AACC02000033;ABBA01057590;AC007938;AF384667;AK093288;AK131191;AK315256;AMYH01017933;AY155228;AY155229;AY155230;BC039362;BC042996;BC053681;BK000187;CH236950;CH471070;DB059130;NM_001127441;NM_001127442;NM_080385 AAH39362;AAH42996;AAL37611;AAO17155;AAO17156;ADQ33032;BAC04122;BAD18389;BAG37675;DAA00035;EAL24090;EAW83754;EAW83755;EAW83756;EAW83757;EAW83758;EAW83759;EAW83760;NP_001120913;NP_001120914;NP_525124;Q8WXQ8 Hs.567642 FLJ35969 OTTHUMP00000212497;OTTHUMP00000212498;OTTHUMP00000212499;OTTHUMP00000212500;OTTHUMP00000212501;OTTHUMP00000212502;carboxypeptidase A5 APPROVED protein-coding ENSG00000158525 15722 07097 609561 VALIDATED 737246 CPB1 carboxypeptidase B1 (tissue) Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008] 3 3 q24 150028278 150060664 + 148545588 148577974 + 1580863;6480464 18558717;17673703;15489334;12477932;12162965;9524066;8322019;7505580;3222247;2920728;2307232;1370825;17398;20379614 1360 C9J5C4;C9JUX7;C9JXS3;P15086 ABBA01058950;ABBA01058951;AC024897;AC092979;AJ224866;AK313940;AMYH01013568;BC015338;BI770145;BT009910;CH471052;CR749369;M81057;NM_001871 AAA66973;AAH15338;AAP88912;ABM84632;ABM92164;CAA12163;CAH18222;EAW78903;EAW78904;NP_001862;P15086 Hs.477891 1659976;2107951;2148446 A002J07;CPB1_8164;STS-M81057 CPB;DKFZp779K1333;PASP;PCPB OTTHUMP00000215657;OTTHUMP00000215669;carboxypeptidase B;carboxypeptidase b1;pancreas-specific protein;pancreatic carboxypeptidase B;procarboxypeptidase B;protaminase;tissue carboxypeptidase B APPROVED protein-coding ENSG00000153002 2299 00271 114852 REVIEWED 731734 CPB2 carboxypeptidase B2 (plasma) Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 13 13 q14.11 45525323 45577212 - 46627322 46679211 - 1598473;1598476;1598478;1598479;1598474;2313646;2313648;2313645;2313641;2313643;6480464;6907045;7243111;7243112;7243118;7243119;7243121;7243123;7243117;7243116;7243124 16244771;14739223;14717966;12624641;15668188;17911187;15497025;11836301;16123492;14983223;22768796;19386599;17988229;19056482;17327284;12574207;18612543;22932273;12439147 15224354;15128744;15057823;15025077;15004439;14715654;14525995;14517491;12958613;12941043;12876631;15489334;15333035;12871455;12830006;12799375;12645517;12643276;12595308;12477932;12368162;12362237;12165290;12087030;12006404;11903334;11786552;11776333;11686324;11686322;11686321;11410415;10777524;10350473;9869166;8975730;8663147;8662763;2920728;1427879;17398;11939578;1939207;10651877;19526059;19377074;19335449;19298343;19253106;19074424;19061349;19038242;19017260;19010784;18986391;18974842;18958767;18836720;18774564;18722183;18683146;18674955;18669641;18612536;18563448;18559974;18513211;18480982;18455758;18406001;18396157;18350479;18341631;18252711;18160566;18075282;18063813;18048863;18021301;17855631;17723126;17690487;17673703;17666015;17644733;17636471;17473579;17388801;17272741;17264944;17138567;17107352;16894472;16540154;16504676;16445295;16441664;16335952;15978108;15719893;15692247;15550029;15543330;15521922;19913121;20627371;20628086;20729722;19195685;19416536;19578796;19699511;19718465;19874466;19895374;19967152;20128871;20216989;20379614;20381197;20447686;20375563;20961395;20237223;20542541;20880845;19368913;20088944;20594598;21041299;20385790;20490730;19859836;21195459;20723026;22985614;22740053;21467042;21297448;21622187;21894805;22353215;22498006;21804193;19850743;21708401;21629966;22260642;22452791;23174621;21988832;22931662;23140098;23750785;22032800;11337467;11565542;22938027 1361 Q96IY4 AA700377;AB011969;ABBA01050982;ABBA01050983;AF080222;AF080223;AK290829;AL137141;AL157758;AMYH01005093;AU100156;AV719308;AY714780;BC007057;BT006936;CH471075;M75106;NG_032893;NM_001278541;NM_001872 AAA60042;AAH07057;AAP35582;AAT97987;ABM92184;ABW03279;BAA90475;BAF83518;EAX08754;EAX08755;NP_001265470;NP_001863;Q96IY4 Hs.512937 1664226;1665153;1719489;1721919;1777842;1788210;1849725;2177401;2217188 CPB2_3955;D13S1161;G59992;G67452;RH123464;RH78160;SHGC-30919;SHGC-56642;WIAF-1544 CPU;PCPB;TAFI OTTHUMP00000018364;OTTHUMP00000018365;carboxypeptidase B-like protein;carboxypeptidase B2;carboxypeptidase B2 (plasma, carboxypeptidase U);carboxypeptidase R;carboxypeptidase U;plasma carboxypeptidase B;thrombin-activable fibrinolysis inhibitor;thrombin-activatable fibrinolysis inhibitor APPROVED protein-coding ENSG00000080618 2300 04374 603101 REVIEWED 731463 CPD carboxypeptidase D The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2 25730110 25819825 + 28705942 28796675 + 1580863;6480464 9064476;17641957;15918796;15489334;12754519;12643288;12477932;12417617;11306718;9815277;9714835;9628828;9490632;9355738;8619474;22902628;18535109;21628999;22354994;19322201;20682791;21139048;21906983;22505724 1362 J3QQJ4;J3QRJ9;K7ELF0;O75976 ABBA01015001;AC006050;AC090685;AK302497;AK302878;AK316409;AL049339;AMYH01008300;AMYH01008301;AMYH01008302;AMYH01008303;BC020457;BC045549;BC045624;BC051702;BC054116;CA436219;CH471159;D85390;NM_001199775;NM_001304;U65090;U90914 AAC51775;AAH45549;AAH45624;AAH51702;BAA33370;BAH13725;BAH13829;BAH14780;EAW51227;EAW51228;NP_001186704;NP_001295;O75976 Hs.446079 1659624;1675720;1680681;1701238;1777415;1797434;1848808;2111178;2141780;5021349 A001U18;CPD_1887;D17S2004;D17S2009;D17S962E;MARC_23481-23482:1027350718:1;RH104247;RH11489;RH47227;STS-H01467 GP180 OTTHUMP00000163684;carboxypeptidase D;metallocarboxypeptidase D APPROVED protein-coding ENSG00000108582 2301 04375 603102 REVIEWED 1347113 CPHL1P ceruloplasmin and hephaestin-like 1 pseudogene 3 3 3 q25.1 147369659 147403901 - 150429908 150477141 - 148959149 148993394 - 16543943;11329013;22589738 389160 ABBA01058946;AC093001;AMYH01013570;NG_022938 1784798 SHGC-155148 CPHL1 APPROVED pseudo 31714 INFERRED 1344427 CPL1 ceruloplasmin-like 1 3436225 1367 2308 1348549 CPEB3 cytoplasmic polyadenylation element binding protein 3 10 10 10 q23.32 87552931 87795403 - 93798379 94040824 - 93808397 94050875 - 6480464 16990549;15489334;12672660;12477932;10231032;15164054;22711986;16344560;16385451;19503753;20379614;20524672;21336257 22849 B3KXC1;Q5QP71;Q8NE35 AB023157;ABBA01021914;ABBA01021915;ABBA01021916;ABBA01021917;ABBA01021918;ABBA01021919;AK127060;AK302576;AL158040;AL365398;AMYH01002946;AMYH01002947;BC036444;BU785463;CH471066;DA697430;DB029361;NM_001178137;NM_014912 AAH36444;ABM87628;ABW03915;BAA76784;BAG54433;BAH13751;EAW50097;EAW50098;NP_001171608;NP_055727;Q8NE35 Hs.131683;Hs.701732 1678743;1699880;1718533;1724347;1781882;1792946;1794970;2143903;2155899;2157287 G17554;PMC170964P2;PMC86556P1;RH103548;RH119096;RH122468;RH12541;RH44287;SHGC-106170;SHGC-30793 CPE-BP3;CPE-binding protein 3;OTTHUMP00000020094;OTTHUMP00000020095;cytoplasmic polyadenylation element-binding protein 3;hCPEB-3 protein-coding ENSG00000107864 21746 16745 610606 VALIDATED 1316707 CPEB2 cytoplasmic polyadenylation element binding protein 2 The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 4 4 4 p15.33 15469162 15536022 + 14614620 14680872 + 15004298 15071777 + 6480464 15489334;14702039;12672660;12477932 132864 E7EPM3;F5H160;F5H659;H0Y9D9;J3KN18;Q7Z5Q1 ABBA01032565;ABBA01032566;AC098829;AC105289;AC114749;AK094566;AMYH01014020;AMYH01014021;AY247744;AY255519;BC103939;BC103940;BC103941;BC103942;BC105925;BI857384;BU854092;BX640753;CH471069;NM_001177381;NM_001177382;NM_001177383;NM_001177384;NM_182485;NM_182646 AAI03940;AAI03941;AAI03942;AAI03943;AAI05926;AAP37585;AAP41553;CAE45860;EAW92727;EAW92728;EAW92729;EAW92730;NP_001170852;NP_001170853;NP_001170854;NP_001170855;NP_872291;NP_872587;Q7Z5Q1 Hs.656937 1645093;1720847;2106463;2124562;2129675;2149406;2153610;2190955 CPEB2_4624;G34337;G59401;MARC_12073-12074:1004623170:1;SHGC-67263;SHGC-67785;SHGC-67966;WI-14109 CPE-BP2;CPEB-2;MGC119575;MGC119576;MGC119577;hCPEB-2 CPE-BP2;CPE-binding protein 2;OTTHUMP00000115833;OTTHUMP00000115834;OTTHUMP00000217612;OTTHUMP00000217613;OTTHUMP00000217614;cytoplasmic polyadenylation element-binding protein 2;hCPEB-2 APPROVED protein-coding ENSG00000137449 21745 16744 610605 REVIEWED 1323642 CPEB4 cytoplasmic polyadenylation element binding protein 4 5 5 5 q21 169347869 169419849 + 173248795 173319917 + 173315331 173387313 + 1580863;6480464 15489334;12672660;12477932;11214970;20935629;21102463;19913121;20601676;20628086;22939629;22210626;22138752;23145039;23128233;23251661 80315 B7ZLQ8;E5RFP2;E5RJM0;H0YBG1;Q17RY0 AB051460;ABBA01044016;AC093275;AK310905;AMYH01015831;BC036899;BC117150;BC143958;BC143959;BX538213;CH471062;NM_030627 AAH36899;AAI17151;AAI43959;AAI43960;ADR83112;BAB21764;CAD98072;EAW61389;EAW61390;EAW61391;EAW61392;EAW61393;NP_085130;Q17RY0 Hs.127126 1670555;1674466;1686320;1749603;1780558;2136347;2158152;2165482;2178695;5094800 AAT013;G16920;G16921;RH45640;RH93220;SHGC-111286;STS-H71226;STS-H95340;WI-14103;bac51093T KIAA1673 CPE-BP4;CPE-binding protein 4;OTTHUMP00000161102;OTTHUMP00000223638;OTTHUMP00000223639;OTTHUMP00000223640;OTTHUMP00000223641;OTTHUMP00000223642;cytoplasmic polyadenylation element-binding protein 4;hCPEB-4 protein-coding ENSG00000113742 21747 16746 610607 VALIDATED 732381 CPE carboxypeptidase E This gene encodes a carboxypeptidase that cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. It is a peripheral membrane protein. The protein specifically binds regulated secretory pathway proteins, including prohormones, but not constitutively secreted proteins. Mutations in this gene are implicated in type II diabetes. [provided by RefSeq, Jul 2008] 4 4 q32.3 166519538 166638926 + 166300097 166419482 + 728242;704405;1580863;1626182;1357926;1626183;1626184;1626181;6480464;6483325;6907045 2334405;12530526;11874690;11462236;9662053;7663508;18570185 9019408;19166515;19120309;19077438;18550819;18501121;18080843;17957445;16169070;15664176;15492986;15489334;14702039;14690244;12479974;12477932;12417617;12270926;11375130;11373325;10966857;9815277;9369230;9275097;9197538;8864828;8770919;8674818;8449522;7790890;7477119;6808517;19913121;20628086;19491387;19593212;20201924;20379614;20468064;21061162;21285511;20368287;22824791;21628999;21906983 1363 C9JE88;D6R930;D6RF88;H0YAM0;P16870 AB006898;ABBA01070291;ABBA01070292;ABBA01070293;ABBA01070294;ABBA01070295;AC012504;AI340177;AK090962;AK127165;AK290996;AK294175;AMYH01014673;BC033866;BC053612;BM271829;CH471056;NM_001873;X51405 AAH33866;AAH53612;ABM84248;ABM87636;BAA86053;BAF83685;BAG52254;BAG54445;BAG57495;CAA35767;EAX04817;EAX04818;EAX04819;NP_001864;P16870 Hs.75360 1645826;1666168;1678703;1681863;1690740;1794068;2123069;2138777;2141137;2165624;2166533;5022584;5093288 A009K44;D4S2566E;G32630;PMC310777P5;RH17550;RH71193;RH71421;SHGC-12636;SHGC-34066;SHGC-50820;SHGC-59750;SHGC4-1788;STS-H56546 CPH;OTTHUMP00000196776;carboxypeptidase E;carboxypeptidase H;cobalt-stimulated chromaffin granule carboxypeptidase;enkephalin convertase;insulin granule-associated carboxypeptidase;prohormone-processing carboxypeptidase 1643249;2289317;2289563 BW135_H;BW379_H;BW441_H APPROVED protein-coding ENSG00000109472 2303 00272 114855 REVIEWED 1321314 CPEB1 cytoplasmic polyadenylation element binding protein 1 This gene encodes a member of the cytoplasmic polyadenylation element (CPE) binding protein family. This highly conserved protein binds to a specific RNA sequence called the CPE found in the 3' UTR of some mRNAs. Similar proteins in Xenopus and mouse function to induce cytoplasmic polyadenylation of dormant mRNAs with short polyA tails, resulting in their translation. Members of this protein family regulate translation of cyclin B1 during embryonic cell divisions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q25.2 81009006 81113783 - 83211951 83316728 - 1580863;6480464 19161537;19141477;18923137;16344560;15966895;15731006;15489334;14702039;12477932;11433366;11223249;9847074;12629046;22334078;22456264;21478871;20062064;20144904;17207965;20339377;21832049;21988832;23500490;22253608;22052064;22727665;23434754 64506 G8JLI7;H3BNJ3;H3BNX1;H3BPD6;H3BTE4;H3BUA9;J3KN28;Q9BZB8 ABBA01029417;ABBA01029418;AC010724;AC105339;AC110291;AF329402;AF329403;AK023265;AK294280;AK300105;AK301728;AL832156;AMYH01006854;BC035348;BC050629;BX649159;CH471188;DA340952;DA705313;NM_001079533;NM_001079534;NM_001079535;NM_030594 AAH35348;AAH50629;AAK01239;AAK01240;ADQ32841;BAB14496;BAG63194;BAH11723;BAH13212;EAW62448;EAW62449;EAW62450;EAW62451;EAW62452;NP_001073001;NP_001073002;NP_001073003;NP_085097;Q9BZB8 Hs.547988 1703350;1751719 SHGC-105754;SHGC-68593 CEBP;CPE-BP1;CPEB;FLJ13203;MGC34136;MGC60106 CPE-binding protein 1;cytoplasmic polyadenylation element-binding protein 1;h-CEBP;hCPEB-1 APPROVED protein-coding ENSG00000214575 21744 09553 607342 REVIEWED 1605333 CPED1 cadherin-like and PC-esterase domain containing 1 7 7 7 q31.31 115438272 115746685 + 120415987 120724734 + 120628751 120937498 + 6480464 11256614;16381901;16341674;15489336;14702039;12975309;12853948;12477932;11230166;11076863;8125298;7829101;20031566;20379614;20056006;20082467;22792070;21906983;22504420 79974 A4D0V7;E7ENG7;E9PCC8;G5E9U2;H0YB19;Q5MJQ4;Q9H6Q5 AACC02000001;ABBA01057761;ABBA01057762;ABBA01057763;ABBA01057764;AC004537;AC006364;AC006976;AC073145;AK025639;AK055624;AK130323;AK225313;AK289978;AL832619;AL832638;AMYH01017894;AMYH01017895;AMYH01017896;AMYH01017897;AY358220;AY780785;BC017764;BC018685;BC030538;BC046360;BI496654;BQ082412;CH236947;CH471070;NM_001105533;NM_024913 A4D0V7;AAH30538;AAH46360;AAQ88587;AAS02027;AAV98355;BAB15198;BAB70974;BAF82667;CAD89953;CAD89961;CAL37422;EAL24348;EAW83550;EAW83551;EAW83552;EAW83553;EAW83554;EAW83555;NP_001099003;NP_079189 Hs.189652 1340302;1686732;1707488;1710944;1752773;1764681;1851032;2141155;2148734;2172095;2182149;7187638 D7S1470;D7S1649;D7S1668;D7S643;GDB:1317304;RH78359;RH79960;SHGC-106523;SHGC-148273;SHGC-84445;SHGC-84541 C7orf58;FLJ21986;FLJ26813 OTTHUMP00000211230;OTTHUMP00000211231;OTTHUMP00000211233;OTTHUMP00000225669;cadherin-like and PC-esterase domain-containing protein 1;hypothetical protein LOC79974;uncharacterized protein C7orf58 APPROVED protein-coding ENSG00000106034 26159 08647 VALIDATED 1604870 CPLX3 complexin 3 15 15 15 q24.1 52068980 52074165 + 72906004 72911189 + 75118951 75124136 + 6480464 15911881;14702039;12934113;12477932;21490707;19430483;21785413;21876539 594855 Q8WVH0 AB072900;ABBA01060505;AC091230;AK024055;AMYH01006795;AU253913;AY286501;BC018026;CH471136;NM_001030005 AAH18026;AAP41127;BAB14805;BAE45711;EAW99306;EAW99307;NP_001025176;Q8WVH0 Hs.187694 1689588;1698780;1711418;1757957;1789082 G42193;G65676;RH102953;RH92882;SHGC-146938 CPX-III;CPXIII;DKFZp434E1719;FLJ00167;FLJ00250;FLJ13993;Nbla11589 CPX III;OTTHUMP00000183475;complexin III;complexin-3 protein-coding ENSG00000213578 27652 609585 VALIDATED 735999 CPLX1 complexin 1 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008] 4 4 p16.3 768745 809945 - 778745 819945 - 70701;1580863;6480464 7553862 18240322;16794037;16442780;15526345;15489334;12477932;12082566;12058476;11832227;11483314;10051208;9853440;7654227;12200427;10449403;16722236;20201926;21697133;22939629;22705946;21785412;21785414 10815 D6RAG3;D6RI11;F1T0G1;O14810 AB593095;ABBA01019341;ABBA01019342;AC139887;AF022383;AK126578;AK311921;AMYH01013840;BC002471;BT007029;CH471131;NM_006651 AAB72108;AAH02471;AAP35676;BAG34862;BAJ84035;EAW82647;EAW82648;EAW82649;NP_006642;O14810 Hs.478930 2109185;2141682;2182076;2182425 CPLX1_9185;D4S1270;RH18288;RH78792 CPX-I;CPX1 CPX I;OTTHUMP00000217327;OTTHUMP00000217328;OTTHUMP00000217329;complexin I;complexin-1;synaphin 2;synaphin-2 APPROVED protein-coding ENSG00000168993 2309 09233 605032 REVIEWED 732283 CPLX2 complexin 2 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q35.2 175156216 175243629 + 175223610 175311023 + 70701;734813;6480464 7553862;11163241 16442780;18240322;16162394;16131404;15906159;15653259;15489334;14702039;12807877;12477932;12200427;12082566;12058476;11751907;11576753;11483314;10777504;10430466;10051208;9853440;8824312;605033;10449403;20819981;19851296;20198315;20379614;21832049;23251661 10814 D6R960;D6RBA5;D6RDN3;D6RGY3;D6RI05;Q6PUV4 ABBA01043986;ABBA01043987;ABBA01043988;ABBA01043989;AC010241;AC018760;AC138965;AK055043;AK094266;AK124837;AK126590;AK293819;AK314177;AL512758;AL707430;AMYH01015839;AY576870;BC039560;BC052974;BC065485;BC093706;BC112287;BI197868;BN000499;BN000500;CH471062;NM_001008220;NM_006650;U35100;Y15167 AAC50229;AAH93706;AAI12288;AAS93622;BAG36859;BAG57224;CAG26663;CAG26664;EAW61366;EAW61367;NP_001008221;NP_006641;Q6PUV4 Hs.193235 1703616;1730149;1740485;1787772;2109187;2117084;2162953;2166348;2181129;5493115 CPLX2_9184;D5S1615E;D5S2279E;D5S446E;RH18041;SGC30041;SGC31663;SHGC-173139;SHGC-78708;UniSTS:484355 921-L;CPX-2;CPX2;Hfb1;MGC138492 CPX II;OTTHUMP00000161249;OTTHUMP00000223286;OTTHUMP00000223289;OTTHUMP00000223290;OTTHUMP00000223291;OTTHUMP00000223293;complexin II;complexin-2;synaphin 1;synaphin-1 APPROVED protein-coding ENSG00000145920 2310 09234 605033 REVIEWED 734334 CPN1 carboxypeptidase N, polypeptide 1 Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008] 10 10 q24.2 101792055 101831632 - 101802065 101841642 - 1580863;6480464;7240710 2912725;19010784;18940312;18039526;15718415;15489334;14687935;12725295;12560874;12477932;11939578;10878383;9628828;8267877;3408501;2610070;20648472;16385451;20200978;21052031;18624398;22001757;20881960;22504420;23000409 1369 B1AP58;B1AP59;P15169 ABBA01063233;ABBA01063234;ABBA01063235;ABBA01063236;AK313972;AL441886;AMYH01002996;AW950687;BC027897;CH471066;NG_012060;NM_001308;X14329 AAH27897;ABM82977;ABM86170;ABM86171;BAG36687;CAA32507;EAW49848;NP_001299;P15169 Hs.2246 1846791 RH71275 CPN;FLJ40792;SCPN OTTHUMP00000020269;anaphylatoxin inactivator;arginine carboxypeptidase;carboxypeptidase K;carboxypeptidase N catalytic chain;carboxypeptidase N catalytic subunit;carboxypeptidase N polypeptide 1 50 kD;carboxypeptidase N small subunit;carboxypeptidase n, polypeptide 1, 50kd;kininase I;kininase-1;lysine carboxypeptidase;plasma carboxypeptidase B;serum carboxypeptidase N APPROVED protein-coding ENSG00000120054 2312 09120 212070;603103 REVIEWED 1316951 CPLX4 complexin 4 This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [provided by RefSeq, Jan 2009] 18 18 18 q21.32 53680459 53703698 - 55113634 55136861 - 56962634 56985881 - 1580863;6480464 15911881;15489334;14702039;12477932;8889548;21697133 339302 F1T0L6;K7EM04;Q7Z7G2 AB593158;ABBA01056167;AC067859;AK123184;AMYH01009034;AY286502;BC065562;BC106886;BC106887;BC106888;BM661846;BX640655;BX648518;CH471096;NM_181654 AAI06888;AAI06889;AAP41128;ACE86605;ACE87286;BAC85549;BAJ84090;CAE45797;EAW63094;EAW63095;NP_857637;Q7Z7G2 Hs.449884 CPX-IV;CPXIV;DKFZp686A0185;DKFZp686O0683;FLJ41190;MGC125769;MGC125783;MGC125784 CPX IV;OTTHUMP00000163642;complexin IV;complexin-4 APPROVED protein-coding ENSG00000166569 24330 13091 609586 REVIEWED 1321490 CPM carboxypeptidase M The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 12 12 q14.3 67531222 67643287 - 69244955 69357020 - 1580863;6480464 2753907;7797563;18292211;18187413;16602701;16344560;15489334;15066430;14517339;12477932;12457462;11934264;11891060;11444929;11375929;11147789;10849748;10426564;10222261;9701794;8889548;8796265;8635221;8586455;8338689;7620164;7615511;2914904;1431901;21454694;20673876;19820690;18029348;22157720;19322201;20360068;23172796 1368 F8VR29;F8VU13;F8VVI6;F8W111;H0YHG6;H0YHN7;P14384 ABBA01026549;ABBA01026550;AC025423;AC133749;AF262947;AF368463;AI524542;AK127859;AK130146;AK313180;AMYH01004563;AU106031;BC016943;BC022276;BG677445;BM049082;BQ181238;BQ431065;BQ706414;BQ773666;CB241489;CB959900;CB989009;CB993834;CD109360;DA205368;DA831499;DA833423;DB006895;J04970;NM_001005502;NM_001874;NM_198320 AAA35651;AAG47641;AAH22276;AAK69717;ABM84045;ABM87391;BAG35997;NP_001005502;NP_001865;NP_938079;P14384 Hs.654387 1337159;1661991;1681296;1739715;1746477;1777718;2184651;5015959;5015961;5016596;5022200;5022322;5037552;5037554;5109281 D10S2448;D11S2560;D12S1501;D15S1477;D1S1425;D8S2279;D8S2282;DXS8011;G64384;GDB:631802;L18426;RH44527;RH44674;RH98659;STS-J04970 OTTHUMP00000240713;OTTHUMP00000240714;OTTHUMP00000240715;carboxypeptidase M;renal carboxypeptidase;urinary carboxypeptidase B APPROVED protein-coding ENSG00000135678 2311 00273 114860 REVIEWED 1346122 CPN2 carboxypeptidase N, polypeptide 2 3 3 3 q29 192475891 192487060 - 195542189 195553350 - 194060494 194072057 - 1580863;6480464 2378615;18029348;16335952;15489334;14760718;12477932;9628828;3408501;21052031;21145461;14687935 1370 P22792 ABBA01001629;AC125362;AC174158;AMYH01013779;BC031569;BC042334;BC137398;BC137403;BX951477;CS300516;J05158;NM_001080513 AAA51921;AAH31569;AAH42334;AAI37399;AAI37404;CAK32180;NP_001073982;P22792 Hs.528368 1767860;2125878;5014599 D3S4184;SHGC-12402;STS-J05158 ACBP OTTHUMP00000209122;OTTHUMP00000209123;arginine carboxypeptidase (carboxypeptidase N);carboxypeptidase N 83 kDa chain;carboxypeptidase N large subunit;carboxypeptidase N regulatory subunit;carboxypeptidase N subunit 2 protein-coding ENSG00000178772 2313 11928 603104 VALIDATED 1317548 CPNE5 copine V Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 38263598 38362252 - 36816533 36915198 - 36708555 36807220 - 6480464 14574404;12477932;10997877;9647638;9430674;20379614;21906983 57699 Q7Z6C8;Q9HCH3 AB046819;ABBA01038267;AL833002;AMYH01016275;BC012765;BC036840;BC053872;CH471081;NM_020939;Z85996 AAH53872;BAB13425;CAH56298;EAX03911;EAX03912;EAX03913;EAX03914;EAX03915;NP_065990;Q9HCH3 Hs.657869 2173092;2178493 RH46641;SGC30669 COPN5;CPN5;DKFZp666C234;KIAA1599 OTTHUMP00000016296;copine-5 APPROVED protein-coding ENSG00000124772 2318 05018 604209 REVIEWED 1322452 CPNE1 copine I Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008] 20 20 20 q11.22 30962261 31001142 - 33677380 33716262 - 34213953 34252878 - 1580863;6480464 9430674;18831769;18523666;16806233;15489334;14674885;12949241;12522145;12477932;11780052;10534407;17643375;19615732;16341674;16344560;22939629;22990118;17620599;21987572;21139048;21890473;21906983;21252943;18029348;22505724 8904 A6PVH9;B0QZ18;E7ENH5;E7EV27;F2Z2V0;H0Y524;Q5JX44;Q5JX45;Q5JX52;Q5JX53;Q5JX54;Q5JX55;Q5JX56;Q5JX57;Q5JX58;Q5JX59;Q5JX60;Q5JX61;Q99829 AB209827;ABBA01019152;AF314092;AI075146;AK308795;AL109827;AMYH01011875;AW964878;BC001142;BC021010;BG231745;BG701713;BI825962;BI917584;BM755522;BQ433414;CH471077;CR456790;DA983782;DB091531;NM_001198863;NM_003915;NM_152925;NM_152926;NM_152927;NM_152928;NR_037188;U83246 AAC15920;AAG49297;AAH01142;BAD93064;CAG33071;CAI20120;CAI20122;CAI20123;CAI20124;CAI20125;CAI20126;CAI20127;CAI20128;CAI20129;CAI20130;CAI20131;CAI20132;CAI20133;EAW76173;EAW76174;EAW76175;EAW76176;EAW76177;EAW76178;EAW76179;EAW76183;EAW76185;EAW76186;EAW76187;EAW76189;EAW76190;NP_001185792;NP_003906;NP_690902;NP_690903;NP_690904;NP_690905;Q99829 Hs.246413;Hs.700188 1653389;1666376;1754105;1760243;1772220;1801110;1801228;1801304;1801690;1801806;1802280;1802940;1803586;1803864;1804670;1805762;1806228;1806738;1807260;1807726;1807874;1808078;1810310;1810660;1813442;1813860;1817536;1817640;1819552;1822772;1827778;1828206;1828740;1830730;1831912;1832550;1833616;1836380;1836506;1836800;1836896;1839134;1840934;1841596;1842376;1845134;1849846;1975200;1975202;1975204;1975206;1975208;1975210;1975212;1975214;1975216;1975218;1975220;1975222;1975224;1975226;1975228;1975230;1975232;1975234;1975236;1975238;1975240;1975242;1975244;1975246;1975248;1975250;1975252;1975254;1975256;1975258;1975260;1975262;1975264;1975266;1975268;1975270;1975272;1975274;1975276;1975278;1975280;1975282;1975284;1975286;1975288;1975290;1975292;1975294;1975296;1975298;1975300;1975302;1975304;1975306;1975308;1975310;1975312;1975314;1975316;1975318;1975320;1975322;1975324;1975326;1975328;1975330;1975332;1975334;1975336;1975338;1975340;1975342;1975344;1975346;1975348;1975350;1975352;1975354;1975356;1975358;1975360;1975362;1975364;1975366;1975368;1975370;1975372;1975374;1975376;1975378;1975380;1975382;1975384;1975386;1975388;1975390;1975392;1975394;1975396;1975398;1975400;1975402;1975404;1975406;1975408;1975410;1975412;1975414;1975416;1975418;1975420;1975422;1975424;1975426;1975428;1975430;1975432;1975434;1975436;1975438;1975440;1975442;1975444;1975446;1975448;1975450;1975452;1975454;1975456;1975458;1975460;1975462;1975464;1975466;1975468;1975470;1975472;1975474;1975476;1975478;1975480;1975482;1975484;1975486;1975488;1975490;1975492;1975494;1975496;1975498;1975500;1975502;1975504;1975506;1975508;1975510;1975512;1975514;1975516;1975518;1975520;1975522;1975524;1975526;1975528;1975530;1975532;1975534;1975536;1975538;1975540;1975542;1975544;1975546;1975548;2109189;2124933;2147153;2158452;2161821;2172311;2215504;2215506;2215508;2215510;2215512;2215514;2215516;2215518;2215520;2215522;2215524;2215526;2215528;2215530;2215532;2215534;2215536;2215538;2215540;2215542;2215552;2215554;2215556;2215558;2215560;2215562;2215564;2215566;2215568;2215570;2215572 A001V32;A002R21;A007E38;AL030971;CPNE1_8873;D20S1111;ECD01424;ECD01486;ECD01524;ECD01724;ECD01784;ECD02024;ECD02360;ECD02695;ECD02844;ECD03267;ECD03832;ECD04069;ECD04327;ECD04598;ECD04836;ECD04912;ECD05017;ECD06147;ECD06324;ECD07742;ECD07956;ECD09818;ECD09872;ECD10843;ECD12474;ECD15011;ECD15228;ECD15497;ECD16501;ECD17094;ECD17415;ECD17953;ECD19352;ECD19416;ECD19564;ECD19612;ECD20746;ECD21660;ECD21995;ECD22391;ECD23784;REN58486;REN58487;REN58488;REN58489;REN58490;REN58491;REN58492;REN58493;REN58494;REN58495;REN58496;REN58497;REN58498;REN58499;REN58500;REN58501;REN58502;REN58503;REN58504;REN58505;REN58506;REN58507;REN58508;REN58509;REN58510;REN58511;REN58512;REN58513;REN58514;REN58515;REN58516;REN58517;REN58518;REN58519;REN58520;REN58521;REN58522;REN58523;REN58524;REN58525;REN58526;REN58527;REN58528;REN58529;REN58530;REN58531;REN58532;REN58533;REN58534;REN58535;REN58536;REN58537;REN58538;REN58539;REN58540;REN58541;REN58542;REN58543;REN58544;REN58545;REN58546;REN58547;REN58548;REN58549;REN58550;REN58551;REN58552;REN58553;REN58554;REN58555;REN58556;REN58557;REN58558;REN58559;REN58560;REN58561;REN58562;REN58563;REN58564;REN58565;REN58566;REN58567;REN58568;REN58569;REN58570;REN58571;REN58572;REN58573;REN58574;REN58575;REN58576;REN58577;REN58578;REN58579;REN58580;REN58581;REN58582;REN58583;REN58584;REN58585;REN58586;REN58587;REN58588;REN58589;REN58590;REN58591;REN58592;REN58593;REN58594;REN58595;REN58596;REN58597;REN58598;REN58599;REN58600;REN58601;REN58602;REN58603;REN58604;REN58605;REN58606;REN58607;REN58608;REN58609;REN58610;REN58611;REN58612;REN58613;REN58614;REN58615;REN58616;REN58617;REN58618;REN58619;REN58620;REN58621;REN58622;REN58623;REN58624;REN58625;REN58626;REN58627;REN58628;REN58629;REN58630;REN58631;REN58632;REN58633;REN58634;REN58635;REN58636;REN58637;REN58638;REN58639;REN58640;REN58641;REN58642;REN58643;REN58644;REN58645;REN58646;REN58647;REN58648;REN58649;REN58650;REN58651;REN58652;REN58653;REN58654;REN58655;REN58656;REN58657;REN58658;REN58659;REN58660;RH66098;SGC31802;SHGC-132138;SHGC-132544;SHGC-35711;WI-14831;stSG636747;stSG636748;stSG636749;stSG636750;stSG636751;stSG636752;stSG636753;stSG636754;stSG636755;stSG636756;stSG636757;stSG636758;stSG636759;stSG636760;stSG636761;stSG636762;stSG636763;stSG636764;stSG636765;stSG636766;stSG636771;stSG636772;stSG636773;stSG636774;stSG636775;stSG636776;stSG636777;stSG636778;stSG636779;stSG636780;stSG636781 COPN1;CPN1;MGC1142 OTTHUMP00000030775;OTTHUMP00000030776;OTTHUMP00000030778;OTTHUMP00000030784;OTTHUMP00000196688;OTTHUMP00000199602;OTTHUMP00000204169;copine-1 APPROVED protein-coding ENSG00000214078 2314 05014 604205 REVIEWED 1318850 CPNE4 copine IV Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 129679587 130180523 - 132736262 133236534 - 131253572 131753844 - 6480464 15489334;14702039;12670487;12522145;12477932;9430674;20379614;21507922;22959728 131034 D6RCT2;D6RFY4;D6RI99;Q96A23 ABBA01059191;ABBA01059192;ABBA01059193;ABBA01059194;AC021659;AC055754;AC076961;AC107027;AC135002;AC136276;AF465770;AF465771;AK056175;AK128117;AK295557;AMYH01013497;AMYH01013498;AMYH01013499;AMYH01013500;AMYH01013501;BC014396;BC028613;BC075046;CH471052;NM_130808 AAH14396;AAH28613;AAH75046;AAL74190;AAL74191;ABM84415;ABM87414;BAB71111;BAH12106;EAW79206;EAW79207;NP_570720;Q96A23 Hs.199877 1338641;1340665;1342364;1652383;1682349;1691088;1707926;1719937;1733514;1749083;1752055;1760203;1762907;1763883;1784682;2133573;2161741;2165451;2218422;5092746;5105989;7184419 A005X07;CPNE4_4626;D3S1292;D3S1541;D3S2351;D3S3108;D3S3331;D3S3514;D3S4116;G32303;RH123946;RH28515;RH92270;SHGC-106010;SHGC-110742;SHGC-132484;SHGC-144886;SHGC-145751;SHGC-146663;SHGC-147551;SHGC-82216 COPN4;CPN4;MGC15604 OTTHUMP00000216033;OTTHUMP00000216178;OTTHUMP00000216179;OTTHUMP00000216180;copine 8;copine-4;copine-8 APPROVED protein-coding ENSG00000196353 2317 05017 604208 REVIEWED 1319355 CPNE2 copine II Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008] 16 16 16 q13 41626325 41681691 + 55684011 55739377 + 57126455 57181878 + 6480464 15489334;14702039;12949241;12522145;12477932;9430674;21145461;20381070;15146197;8889548;20098747;22939629;21044950;21900206;21139048;21890473 221184 H3BPR8;H3BQQ3;H3BUC8;Q719H8;Q96FN4 ABBA01025262;AC009090;AF492484;AK094867;AK126138;AK292269;AK315394;AMYH01007694;BC053658;BG830959;BG831872;CB306539;CH471092;CN283840;CR749617;DB504175;NM_152727 AAH53658;AAO85483;BAF84958;BAG37787;CAH18411;EAW82903;NP_689940;Q96FN4 Hs.339809;Hs.736510 1649468;1675315;2129778;2218420 CPNE2_4625;RH64876;SHGC-61122;STS-F03992 COPN2;CPN2;DKFZp686E06199;MGC16924 OTTHUMP00000164676;copine-2 APPROVED protein-coding ENSG00000140848 2315 05015 604206 REVIEWED 1313396 CPNE6 copine VI (neuronal) This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013] 14 14 14 q11.2 4405233 4411773 + 23610596 23617136 + 24540756 24547296 + 1580863;6480464 9645480;15489334;14702039;12477932;11041869;10403379;9886090;8125298;16169070;20800603;21900206;12440769;9430674 9362 F5GXN1;H0YK44;H0YKJ0;H0YKP1;H0YLM2;H0YLS9;H0YLV2;H0YM67;H0YNM7;H0YNP2;H0YNV2;H0YNV6;H0YNX4;O95741 AB009288;ABBA01061330;AK125195;AK222675;AK293655;AK294460;AK314182;AL050397;AL136295;AL137688;AMYH01005609;AW157471;BC018046;BX118572;CH471078;DB481985;NM_001280558;NM_006032 AAH18046;ABM84568;ABM86508;BAA75899;BAD96395;BAG36863;BAG54163;BAH11559;BAH11775;EAW66117;EAW66118;EAW66119;EAW66120;NP_001267487;NP_006023;O95741 Hs.6132 1777989;2144432;2174641 RH66347;SHGC-32365;STS-F02322 N-COPINE N-copine;OTTHUMP00000027965;copine-6;neuronal copine;neuronal-copine APPROVED protein-coding ENSG00000100884 2319 05748 605688 REVIEWED 1351949 CPP ceruloplasmin (ferroxidase) pseudogene 8 8 8 q21.3 88363820 88366464 + 92238687 92241126 + 92169506 92172150 + 15752613;3427102 340451 ABBA01037416;AC104966;AMYH01018876;M18058;NG_001106 1745555;1745557;1745561;1745563;1745565;1745567;1745569;1849047 D3S3906;GDB:624444;GDB:624447;GDB:624453;GDB:624457;GDB:624463;GDB:624469;GDB:624472 pseudo 2322 INFERRED 1320926 CPNE3 copine III Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008] 8 8 8 q21.3 83721201 83768282 + 87595788 87642842 + 87526656 87573726 + 1580863;6480464 11041869;9430674;12949241;18264096;16344560;15489334;14702039;12477932;9734811;16169070;19615732;20010870;22939629;21139048;21890473;21906983;21963094;19322201;21044950;23000965;23062752 8895 E5RFT7;E5RG68;E5RG97;E5RHZ0;E5RJ85;H0YB26;O75131;Q05DL8 AB014536;ABBA01037363;ABBA01037364;AC013751;AC103817;AF077226;AF116654;AI031907;AK025275;AK124311;AK292912;AMYH01018859;AMYH01018860;BC007017;BC008385;BC015734;BC036242;BC066597;BM014699;BX647342;CH471060;DA780310;FB775564;NM_003909 AAD46074;AAF71074;AAH07017;AAH36242;AAH66597;BAA31611;BAF85601;CAV30739;EAW91641;EAW91642;EAW91643;NP_003900;O75131 Hs.191219 1665098;1680884;1699470;1735728;1767618;2139030;2139032;2161299;5016851 A001W47;D8S1345E;G19731;RH103327;RH12225;RH70186;RH80031;SHGC-2354;SHGC-24287 CPN3;KIAA0636;PRO1071 OTTHUMP00000224659;copine-3 APPROVED protein-coding ENSG00000085719 2316 05016 604207 REVIEWED 1316677 CPNE7 copine VII This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 16 16 16 q24.3 74705518 74726398 + 88169677 88191155 + 89642176 89663654 + 1580863;6480464 10534407;16189514;15489334;12477932;8889548;21145461;19615732;21900206;21906983 27132 E9PJ31;H0YE30;H0YEH8;H3BP03;Q9UBL6 ABBA01014144;AC010538;AC092123;AJ133798;AJ133799;AL539371;AMYH01007931;AMYH01007932;AMYH01007933;AMYH01007934;BC035334;BC064577;BU739859;CH471184;NM_014427;NM_153636 AAH35334;AAH64577;ADZ15445;CAB61431;CAB61446;EAW66721;EAW66722;NP_055242;NP_705900;Q9UBL6 Hs.461775 1664619;1715907 RH12020;RH122688 MGC34192 OTTHUMP00000175354;OTTHUMP00000175355;copine 7;copine-7 APPROVED protein-coding ENSG00000178773 2320 05749 605689 REVIEWED 1604226 CPNE9 copine family member IX 3 3 3 p25.3 9680220 9706296 + 9720510 9746592 + 9745510 9771592 + 6480464 16335952;15489334;15028280;12477932;11123945;9430674;19913121;20628086;21906983 151835 H7BXI0;Q8IYJ1 AA758411;ABBA01020400;ABBA01020401;AC022382;AMYH01012964;BC035735;BC130375;BM545574;BU101942;BX453546;CA307982;NM_153635 AAH35735;AAI30376;NP_705899;Q8IYJ1 Hs.121335 1651713;1662436;2123035 RH12026;SHGC-14322;SHGC-59742 KIAA4217 OTTHUMP00000158526;OTTHUMP00000158831;copine IX;copine-9;copine-like protein protein-coding ENSG00000144550 24336 17307 VALIDATED 1342793 CPO carboxypeptidase O This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011] 2 2 2 q33.3 201565751 201595665 + 207512569 207542405 + 207804278 207834198 + 6480464 15815621;15489334;12477932;11836249;21921028;22589738 130749 Q8IVL8 ABBA01062669;ABBA01062670;AC019052;AJ422118;AMYH01011444;BC112076;BC112078;BK000189;CH471063;NG_028078;NM_173077 AAI12077;AAI12079;AAX93277;CAD19478;DAA00036;EAW70399;NP_775100;Q8IVL8 Hs.684103 MGC138281;MGC138283 OTTHUMP00000112790;carboxypeptidase O;metallocarboxypeptidase C;metallocarboxypeptidase O APPROVED protein-coding ENSG00000144410 21011 07098 609563 REVIEWED 1317425 CPNE8 copine VIII Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008] 12 12 12 q12 37850417 38103873 - 37332269 37585687 - 39046002 39299420 - 6480464 16381901;15489336;15489334;14702039;12886257;12670487;12477932;11230166;11123945;11076863;9430674;22939629;17620599;21139048;21890473;21906983;21987572;19322201;21963094;23000965;23382691 144402 E7ENV7;F8VZB5;Q86VY2;Q86YQ8 ABBA01049527;ABBA01049528;ABBA01049529;AC023795;AC067735;AC069442;AK074223;AK094998;AK098593;AK307908;AMYH01004386;AMYH01004387;AMYH01004388;AY177785;BC046366;BC048260;BC068040;BC110577;BC110578;BI669075;BX538055;CH471111;NM_153634;R51494 AAH46366;AAI10578;AAI10579;AAO21123;BAC05344;BAG52968;CAL37791;EAW57798;EAW57799;NP_705898;Q86YQ8 Hs.40910 1340335;1655976;1675704;1709344;1746225;1746227;1746265;1746267;1749369;1751763;1767465;2126827;2145934;2170175;2177371;2178003 D12S1820;D12S2001;D12S331;G10701;G17654;G64687;G64688;G64689;G64690;RH48252;RH78833;RH94045;SHGC-105720;SHGC-111123;SHGC-31202;SHGC-81670 MGC129645;MGC129646 OTTHUMP00000240987;OTTHUMP00000240989;copine-8 APPROVED protein-coding ENSG00000139117 23498 16747 REVIEWED 1343883 CPSF1P1 cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1 22 22 22 q12.3 16467587 16471400 + 30995268 30999268 + 32665368 32669181 + 129099 ABBA01055369;AL008723;AMYH01012728;NG_005204 1799306;1799520;1800964;1801628;1819380;1836456;2012596;2012598;2012600;2012602;2012604;2012606;2012608;2012610;2012612;2012614;2012616;2012618;2012620;2012622;2012624;2012626;2012628;2012630;2012632;2012634;2012636;2012638;2012640;2012642;2012644;2012646;2012648;2098526;2098528;2098530;2098532;2098534;2168081;2185717 D22S716;ECD00501;ECD00612;ECD01347;ECD01692;ECD10757;ECD19390;REN77227;REN77228;REN77229;REN77230;REN77231;REN77232;REN77233;REN77234;REN77235;REN77236;REN77237;REN77238;REN77239;REN77240;REN77241;REN77242;REN77243;REN77244;REN77245;REN77246;REN77247;REN77248;REN77249;REN77250;REN77251;REN77252;REN77253;STS-R82814;stSG602652;stSG602653;stSG602654;stSG602655;stSG602656 dJ90G24.5 pseudo 19251 INFERRED 736012 CPQ carboxypeptidase Q This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013] 8 8 8 q22.2 93843723 94341990 + 97726675 98224900 + 97657499 98155722 + 6480464 10206990;16303743;12591738;12477932;20802479;20201926;20379614;12675526;22318606;16344560;17214548 10404 E5RH35;E5RJA8;E5RJP8;E5RJZ7;H0YBB7;Q9Y646 AA492294;ABBA01037496;ABBA01037497;ABBA01037498;AC010859;AF107833;AF107834;AF119386;AK075132;AK296013;AK304008;AK315447;AMYH01018908;AMYH01018909;AMYH01018910;AP003111;AP003112;AP003117;AP003477;BC012019;BC020689;BF445505;CH471060;DA699663;NM_016134 AAD31418;AAD43213;AAD43214;AAH20689;ABM84103;ABM87758;BAC11423;BAG37835;BAG58784;BAG64924;EAW91757;EAW91758;NP_057218;Q9Y646 Hs.156178 1651095;1680112;1717505;1721237;1753895;1756159;1786564;1786592;2115215;2116903;2125998;2147207;2184204;5094330 AFM198ZF10;D7S2217;D8S1377E;D8S1512;G54714;G59464;RH122258;RH92662;SHGC-108118;SHGC-112347;SHGC-142280;SHGC-143008;WI-15529;WI-22073 LDP;PGCP OTTHUMP00000227229;Ser-Met dipeptidase;aminopeptidase;blood plasma glutamate carboxypeptidase;carboxypeptidase Q;lysosomal dipeptidase;plasma glutamate carboxypeptidase APPROVED protein-coding ENSG00000104324 16910 07140 REVIEWED 1602325 CPPED1 calcineurin-like phosphoesterase domain containing 1 16 16 16 p13.12 12928685 13072599 - 12661157 12805245 - 12753656 12897744 - 6480464 8125298;16344560;14702039;12477932;17207965;20379614;21139048;21906983;21044950 55313 B4DQ68;Q9BRF8 ABBA01006852;ABBA01006853;ABBA01006854;ABBA01006855;ABBA01006856;AC010333;AC092324;AC109597;AK002013;AK022710;AK093854;AK225359;AK225617;AK298662;AMYH01007169;AY553877;BC006289;BX092044;BX640805;CH471112;DA387854;DB468489;NM_001099455;NM_018340 AAH06289;AAS64575;ADQ32302;BAA92034;BAB14194;BAG52775;BAG60830;CAE45887;EAW85121;EAW85122;NP_001092925;NP_060810;Q9BRF8 Hs.460002 1648746;1680527;1681528;1687544;1695290;1695390;1737313;1765987;1770664;2148126;2159572;5022576;5022578;5024605;5037552 D16S2653;D1S1361;D1S1423;D8S2279;G09525;RH47159;RH47201;RH64955;RH75489;SHGC-10868;SHGC-149384;SHGC-32705;SHGC-60589;SHGC-63005;SHGC-68496 CSTP1;FLJ11151 OTTHUMP00000236588;OTTHUMP00000236589;OTTHUMP00000236590;calcineurin-like phosphoesterase domain-containing protein 1;complete S transactivated protein 1;complete S-transactivated protein 1 protein-coding 25632 07735 VALIDATED 4107272 CPS1-IT1 CPS1 intronic transcript 1 (non-protein coding) This gene does not encode a protein, and it is located within an intron of the gene encoding carbamoyl-phosphate synthetase 1. [provided by RefSeq, Jul 2008] 2 2 2 q34 205250180 205252483 + 211190540 211192675 + 211482295 211484600 + 6480464 12477932 29034 ABBA01062740;AC008172;AF090897;AMYH01011464;BC020670;NG_008285;NR_002763 AAF24021;AAY14961 Hs.658398 1851141 RH78779 CPS1-IT;CPS1IT;CPS1IT1;PRO0132 APPROVED miscrna 30102 VALIDATED 1323470 CPOX coproporphyrinogen oxidase The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009] 3 3 q12 99780980 99795131 - 98298290 98312455 - 1600955;1600958;1580863;1578396;4144824;4144542;6480464;6907045;7240710 7849704;9173682;19482825;16839620 16176984;7757079;9888388;8159699;18029348;8407975;19267996;18557518;17179900;16343843;16258391;16159891;15896662;15489334;14669009;12862310;12477932;12227458;12208494;12181641;12059041;11309681;11248690;9843038;9454777;9298818;9048920;8990017;8286403;8125298;8012360;7987309;7959694;19322201;20877624;21145461;19339664;21277781;22939629;23236641;21824890;22288185;21988832;21139048;21906983;21231929;22765978 1371 D6RER6;H0YA22;P36551 ABBA01026929;AC021660;AK223481;AK290140;AK299692;AMYH01013351;BC017210;BC023551;BC023554;BX648974;CH471052;D16611;NG_015994;NM_000097;Z28409;Z34531 AAH17210;AAH23551;AAH23554;BAA04033;BAD97201;BAF82829;BAG61597;CAA82250;CAA84292;EAW79854;NP_000088;P36551 Hs.476982 1666077;1770179;1784850;2107953;2136364;2141255;5093388;5118013;5118015;5491842 A009N37;CPOX;CPOX_8271;G32689;GDB:636633;GDB:636637;RH67966;SHGC-155965;SHGC-77142;STS-Z28409 CPO;CPX;HCP COX;OTTHUMP00000217368;coprogen oxidase;coproporphyrinogen-III oxidase, mitochondrial;coproporphyrinogenase APPROVED protein-coding ENSG00000080819 2321 00417 121300;612732 REVIEWED 70833 CPS1 carbamoyl-phosphate synthase 1, mitochondrial The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] 2 2 q35 211129583 211252076 + 211342406 211543831 + 1582379;1600715;1600716;1600717;704404;1300048;1580863;2300098;2303515;2303405;2303517;2303532;2303406;2303519;4144071;4144089;70249;4144110;4140432;6480464;6907045;7240710 3680220;8486760;11407344;14718356;4062872;17539997;19135993;15481768;3973436;3387993;8821709;9472964;20347174;11779202;2882780;8836904 12620389;7416778;9711878;15897806;18063578;17597649;17188582;15715943;15617192;15342556;15164414;15146197;12955727;12853138;12655559;12477932;11474210;7590739;2517620;1840546;19913121;20628086;20659789;20877624;20578160;19410549;19754428;19793055;19926579;20031577;20031578;20154341;20379614;20383146;20456087;20520828;6249820;16344560;21281797;20800523;21120950;22939629;21252943;20000738;20618440;22521883;22623531;21963094;22692827;19322201;12938929;17461779;18781797;20360068;21139048;21987572;22145905;21837743;22173106;21886157;22536838;23144319;23378610 1373 B7ZAW0;C9JTA4;E7EWJ3;P31327;Q6PEK7 AB180933;AB180934;AB180935;AB180936;AB180937;AB180938;AB208800;ABBA01062737;ABBA01062738;ABBA01062739;ABBA01062740;ABBA01062741;ABBA01062742;AC007970;AC008172;AF154830;AF536523;AK289749;AK302778;AK316425;AL704546;AMYH01011464;AY167007;AY317138;BC020695;BC058010;BC140943;BJ995129;BP244862;BX537776;BX640601;CH471063;CN367875;CS380713;D90282;DA804480;DC402554;JA361688;JA412925;JA444092;NG_008285;NM_001122633;NM_001122634;NM_001875;Y15793 AAD38072;AAH20695;AAH58010;AAI40944;AAN77181;AAO31763;AAP84318;AAY14960;BAA14328;BAD74204;BAD74205;BAD74206;BAD74207;BAD74208;BAD74209;BAD92037;BAF82438;BAH13804;BAH14796;CAA75785;CAE45707;CAL39127;CCA94564;CCD32697;CCD32852;EAW70492;EAW70493;EAW70494;NP_001116105;NP_001116106;NP_001866;P31327 Hs.149252 1644551;1654414;1654545;1705968;1713275;1720357;1762283;1778271;1784274;1848034;1851141;1851524;5015961;5022322;5022623;5024761;5037552;5092642;5093804 A009X04;D11S2560;D11S2687;D15S1477;D2S2818;D8S2279;G32234;G32934;RH120629;RH12253;RH123929;RH36905;RH68320;RH78779;SHGC-12818;SHGC-146134;SHGC-172945;SHGC-33072;SHGC-79694 CPSASE1 OTTHUMP00000163944;OTTHUMP00000206561;OTTHUMP00000232820;carbamoyl-phosphate synthase [ammonia], mitochondrial;carbamoylphosphate synthetase I APPROVED protein-coding ENSG00000021826 2323 01995 237300;265380;608307 REVIEWED 2290025 CPSF4L cleavage and polyadenylation specific factor 4-like 17 17 17 q25.1 67827709 67841141 - 68761636 68769552 - 71244588 71258019 - 6480464 16625196;12477932;20379614 642843 A6NMK7;H9KVA5 ABBA01028869;AC087301;AMYH01008618;BC157870;CH471099;NM_001129885 A6NMK7;AAI57871;EAW89121;NP_001123357 Hs.534707 1739645 D17S1722E putative cleavage and polyadenylation specificity factor subunit 4-like protein protein-coding ENSG00000187959 33632 PROVISIONAL 1315001 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008] 8 8 q24.23 145589254 145605541 - 145618446 145634733 - 1580863;6480464;6907045 7590244;14667819;12226669;15489334;15302935;14749727;12477932;12392551;11992410;11739730;11124521;11060040;10669729;9311784;9002523;8654386;21145461;8302877;7651824;1756731;18173839;16055720;22939629;19136632;17289029;21139048;21549307;21890473;21906983;21628590;22586326;22505724;23151878 29894 E9PIM1;Q10570 AB046744;ABBA01005205;ABBA01005206;ABBA01005207;AC233992;AF205589;AK293601;AMYH01019151;AMYH01019152;AMYH01019153;BC009954;BC017232;BC028197;CD299980;CH471162;NM_013291;U37012 AAC50293;AAH17232;ABM84405;ABM87355;BAB21613;BAG57065;EAW82106;EAW82107;EAW82108;EAW82109;EAW82110;NP_037423;Q10570 Hs.493202 1701588;1799306;2185717 ECD00501;RH104428;STS-R82814 CPSF160;HSU37012;P/cl.18 CPSF 160 kDa subunit;OTTHUMP00000228753;cleavage and polyadenylation specificity factor 160 kDa subunit;cleavage and polyadenylation specificity factor subunit 1;polyadenylation specificity factor APPROVED protein-coding ENSG00000071894 2324 05823 606027 VALIDATED 1313998 CPSF3 cleavage and polyadenylation specific factor 3, 73kDa This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012] 2 2 p25.1 9481319 9530678 + 9563666 9613239 + 1580863;6480464;6907045 8929409;12226669;7969155;19136632;18955505;18806823;18688255;17669424;17128255;15489334;15324660;15194760;14749727;12477932;11060040;10669729;9002523;8302877;8125298;7590244;18305108;21102410;16055720;22939629;22990118;18288197;16196087;9311784;21139048;21549307;21890473;21906983;21963094;22586326;21822216;23000965;23071092;22505724;22797925 51692 C9JZH6;G5E9W3;Q9UKF6 AA635764;ABBA01015584;ABBA01015585;ABBA01015586;ABBA01015587;ABBA01015588;ABBA01015589;AC080162;AF017269;AF171877;AK025440;AK223487;AK298918;AMYH01010093;BC011654;BC014106;BC020211;BC030988;BC043432;CH471053;DC420903;EF036508;NM_016207 AAB70268;AAF00224;AAH11654;AAH20211;AAH30988;AAY14858;ABO65094;ABW03853;BAD97207;BAG61024;EAX00989;EAX00990;NP_057291;Q9UKF6 Hs.515972 1336260;1773126;2141861;7183428 D2S287;RH78234;WI-11400 CPSF;CPSF-73;CPSF73;YSH1 CPSF 73 kDa subunit;OTTHUMP00000115483;OTTHUMP00000214089;cleavage and polyadenylation specificity factor 3;cleavage and polyadenylation specificity factor 73 kDa subunit;cleavage and polyadenylation specificity factor subunit 3;mRNA 3'-end-processing endonuclease CPSF-73 APPROVED protein-coding ENSG00000119203 2326 05825 606029 REVIEWED 736724 CPSF4 cleavage and polyadenylation specific factor 4, 30kDa Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93770764 93789197 + 98874499 98892932 + 99036563 99054996 + 727752;1580863;6480464;6907045 9651582 17522219;16341674;16189514;15489334;14749727;12690205;12477932;11060040;9224719;9002523;8889549;8302877;7969155;19913121;20628086;16169070;17207965;22990118;19136632;21139048;18029348 10898 B7Z7B0;C9JEV9;C9K0K2;F8WEL7;H7C016;H7C419;O95639 AA040394;AACC02000084;ABBA01013262;AC073063;AI076832;AK301745;AMYH01017721;BC003101;BC050738;BM757197;BM787372;BQ052009;BQ641871;CH236956;CH471091;CR542161;CX754488;EF191081;NM_001081559;NM_006693;U79569 AAD00321;AAH03101;AAH50738;ABN05292;ADQ33100;BAH13546;CAG46958;EAL23878;EAW76662;EAW76663;EAW76664;EAW76665;EAW76666;EAW76667;EAW76668;NP_001075028;NP_006684;O95639 Hs.489287 1775189;1847555;2117707;2161723;2169848 A007H02;GDB:4584931;GDB:4585367;RH12827;UniSTS:16335 CPSF30;NAR;NEB1 CPSF 30 kDa subunit;NS1 effector domain-binding protein 1;OTTHUMP00000206234;OTTHUMP00000206235;OTTHUMP00000206236;OTTHUMP00000206237;OTTHUMP00000206239;cleavage and polyadenylation specific factor 4, 30kd subunit;cleavage and polyadenylation specificity factor 30 kDa subunit;cleavage and polyadenylation specificity factor subunit 4;cleavage-polyadenylation specificity factor, 30kD;neb-1;no arches homolog;no arches-like zinc finger protein APPROVED protein-coding ENSG00000160917 2327 04338 603052 VALIDATED 1320166 CPSF2 cleavage and polyadenylation specific factor 2, 100kDa 14 14 q31.1 91658082 91700296 + 92588298 92630543 + 1580863;6480464;6907045 17353931;12226669;18029348;18688255;18391951;17081983;16344560;15489334;15302935;14749727;14702039;12477932;11526086;11124543;11060040;10983978;10718198;10669729;9002523;8654386;8440247;8302877;7969155;7590244;21145461;20546612;21546767;18305108;16055720;22939629;22990118;19136632;22079093;9311784;19471022;21139048;21549307;21890473;21906983;19322201;22446626;21822216;21963094;23251661;22053931;22174317;22505724 53981 G3V3T7;G3V5T3;H0YJF4;Q9P2I0 AB037788;ABBA01030455;ABBA01030456;ABBA01030457;AK001627;AK001912;AK023583;AL121773;AL442079;AMYH01005958;AU132572;BC060854;BC070095;BU071571;CH471061;DB081880;NM_017437 AAH70095;BAA92605;BAG50953;BAG50992;BAG51207;CAC09445;EAW81480;EAW81481;EAW81482;EAW81483;NP_059133;Q9P2I0 Hs.657632;Hs.736541 1683140;1696956;2144158;5015619;5016478;5020287;5022322;5037552 D11S2560;D11S3114;D8S2279;G36104;GDB:434012;RH101950;RH71185;RH91320 CPSF100;KIAA1367 CPSF 100 kDa subunit;CPSF 100kDa subunit;OTTHUMP00000245343;cleavage and polyadenylation specificity factor 100 kDa subunit;cleavage and polyadenylation specificity factor subunit 2 protein-coding ENSG00000165934 2325 05824 606028 VALIDATED 1603031 CPSF3L cleavage and polyadenylation specific factor 3-like The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 1 1 1 p36.33 1321096 1334176 + 1236828 1249909 - 1246965 1260067 - 6480464 16710414;16381901;16239144;16189514;15684398;15489336;15489334;14702039;12477932;11230166;11076863;18029348;19913121;20628086;20133760;21900206;21139048;21890473;21906983;22252320;23667531;21963094;21988832;23128233;22505724 54973 C9IYS7;C9J979;E9PI75;E9PIG1;E9PIL7;E9PIS0;E9PIX9;E9PJG0;E9PKA4;E9PMA2;E9PNH9;E9PNS4;E9PQF0;H0YCE0;H0YDB1;H0YE15;H0YEQ9;H7C247;J3QRY6;Q9NWX9 AA687684;ABBA01016030;ABBA01016031;ABBA01016032;AK000549;AK021939;AK022675;AK023356;AK027767;AK056652;AK058018;AK092190;AK123641;AK291387;AK297350;AL136813;AL139287;AMYH01000127;AMYH01000128;AMYH01000129;AMYH01000130;BC000675;BC007978;BC008041;BC013904;BC020199;BC042444;BC047576;BK005673;BK005728;CH471183;CR533557;DC295791;DC299237;DC299993;NM_001256456;NM_001256460;NM_001256462;NM_001256463;NM_017871 AAH00675;AAH07978;AAH08041;AAH13904;AAH20199;BAA91246;BAB13943;BAB14541;BAF84076;BAG51775;BAG59799;CAB66747;CAG38588;CAL38096;DAA05669;DAA05728;EAW56232;EAW56233;EAW56234;EAW56235;EAW56236;EAW56237;EAW56238;EAW56239;EAW56240;EAW56241;EAW56242;EAW56243;EAW56244;NP_001243385;NP_001243389;NP_001243391;NP_001243392;NP_060341;Q5TA45 Hs.6449 1682405;1688951;1739935;5014740;5015961;5016478;5020414;5020881;5020946;5024761;5037552;5109281 D15S1477;D17S610;D1S1425;D1S2520;D8S2279;GDB:434012;L17688;L17709;L17971;RH36905;RH76790;RH91825 CPSF73L;FLJ13294;FLJ20542;INT11;INTS11;RC-68;RC68 CPSF3-like protein;OTTHUMP00000003390;OTTHUMP00000003391;OTTHUMP00000003393;OTTHUMP00000003397;cleavage and polyadenylation-specific factor 3-like protein;integrator complex subunit 11;protein related to CPSF subunits of 68 kDa;related to CPSF subunits 68 kDa APPROVED protein-coding ENSG00000127054 26052 13377 611354 VALIDATED 619557 CPT1B carnitine palmitoyltransferase 1B (muscle) The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009] 22 22 q13.33 49354156 49363862 - 51007290 51017096 - 1300048;1580863;2317584;6480464;6484113 19430727 10408760;11257506;16054041;19404393;19074885;18996102;18823527;18820697;18660489;17987377;17089095;15647998;15579906;15356291;12565845;12477932;12015320;11258795;11001805;10918069;10591208;10493829;9344464;9224698;9199240;9070950;8679700;8125298;11095714;19913121;20628086;19553926;19937377;9693124;9830040;20877624;21048031;22538307;22177342;22809552 1375 A5PLL0;C9J7C3;H7C0S1;K7N7A7;Q53FV7;Q92523 AB003286;ABBA01042624;AI142100;AK223174;AK291316;AK297866;AK299395;AMYH01012917;AW297964;BC142954;BG426428;BI560870;BU615917;CB961274;CH471138;D87812;DC373481;HH961808;NG_012643;NM_001145134;NM_001145135;NM_001145136;NM_001145137;NM_004377;NM_152245;NM_152246;U62317;U62733;U66828;Y08682;Y08683 AAB03343;AAB40651;AAC51122;AAI42955;AAI43072;AAI50319;BAA13461;BAA21492;BAD96894;BAF84005;BAH12680;BAH13024;CAA69938;CAA69939;CBX51377;EAW73568;EAW73569;EAW73570;EAW73571;EAW73572;NP_001138606;NP_001138607;NP_001138608;NP_001138609;NP_004368;NP_689451;NP_689452;Q92523 Hs.439777;Hs.609867 1684156;1747343;2107005;2129706;2168853;2168855;2178120;2191233;2191657 A005A09;CPT1B_7768;D22S970E;D22S975E;G20256;G65458;MARC_16689-16690:1017862088:1;MARC_4143-4144:996679424:1;SHGC-34107 CPT1-M;CPT1M;CPTI;CPTI-M;FLJ55729;FLJ58750;KIAA1670;M-CPT1;MCCPT1;MCPT1 CPT I;CPTI-M;OTTHUMP00000196838;OTTHUMP00000196978;OTTHUMP00000196979;carnitine O-palmitoyltransferase 1, muscle isoform;carnitine O-palmitoyltransferase I, mitochondrial muscle isoform;carnitine O-palmitoyltransferase I, muscle isoform;carnitine palmitoyltransferase I-like protein APPROVED protein-coding ENSG00000205560 2329 09065 601987 REVIEWED 1343310 CPX cleft palate and/or ankyloglossia 7240710 1377 2331 302905;302960;303400 1312196 CPSF6 cleavage and polyadenylation specific factor 6, 68kDa The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008] 12 12 q15 67919667 67951290 + 69633317 69668138 + 6480464;6907045 14561889;15169763;14690600;9659921;18809582;18391951;17267687;17024186;16344560;16189514;15937220;15489334;12477932;8626397;8125298;17353931;21145461;17172643;14702039;16055720;16713569;19447967;19864460;20227665;20695905;21295486;22558309;17342744;21483454;22939629;22990118;22301135;18029348;11060040;21139048;21890473;21906983;22446626;22813749;19738201;20085233;21822216;21963094;22113938;22323290;23184937;21994675;22174317;22301145;22505724;22956906 11052 F8VNP8;F8W084;F8WJN3;Q16630 ABBA01026542;AC020656;AK021534;AK021833;AK098338;AK223568;AK292024;AK299928;AMYH01004563;AMYH01004564;AW189370;BC000714;BC005000;CH471054;DA365448;NM_007007;X67336;X67337 AAH00714;AAH05000;ABM83085;ABW03489;BAD97288;BAF84713;BAG61761;CAA47751;CAA47752;EAW97215;EAW97216;EAW97217;EAW97218;EAW97219;NP_008938;Q16630 Hs.369606 1667796;1688277;1736216;1739707;1782560;2129658;2218424 CPSF6_4630;D12S1161E;D12S1495;RH47194;RH70871;SHGC-111490;WI-19247 CFIM;CFIM68;HPBRII-4;HPBRII-7 CPSF 68 kDa subunit;OTTHUMP00000240851;OTTHUMP00000240853;OTTHUMP00000240854;cleavage and polyadenylation specificity factor 68 kDa subunit;cleavage and polyadenylation specificity factor subunit 6;cleavage factor Im complex 68 kDa subunit;pre-mRNA cleavage factor I, 68kD subunit;pre-mRNA cleavage factor Im (68kD);pre-mRNA cleavage factor Im 68 kDa subunit;protein HPBRII-4/7 APPROVED protein-coding ENSG00000111605 13871 604979 VALIDATED 1602680 CPSF7 cleavage and polyadenylation specific factor 7, 59kDa 11 11 11 q12.2 58505642 58532986 - 60926777 60953849 - 61170120 61197464 - 6480464;6907045 16713569;12226669;17081983;16344560;16189514;15489334;15144186;14702039;12477932;8626397;16055720;20695905;17024186;22939629;19542561;21139048;21890473;21628590;11060040;18781797;19596686;21987572;19738201;20467438;22113938;22323290;22623428;18729074;22174317 79869 B4DGF8;C9J286;C9J323;C9JM38;F5GXA3;F5H047;F5H1W4;F5H2K8;F5H5B7;F5H669;F5H6A8;F5H6M0;F5H6P5;J3QT54;Q8N684 ABBA01003199;AJ275970;AK022591;AK092037;AK096343;AK294578;AK307190;AL512759;AL832546;AL832667;AL833332;AMYH01003678;AP003108;BC018135;BX537888;CH471076;DA194038;DA804579;NM_001136040;NM_001142565;NM_024811 AAH18135;ACE86669;ACE87353;BAB14118;BAG53266;BAG57769;CAC21678;CAC81661;CAD97884;EAW73945;NP_001129512;NP_001136037;NP_079087;Q8N684 Hs.718984 1646381;1651899;1857153;2145546;2187487 Bda87b01;RH12455;RH48364;WI-16090;WI-17061 CFIm59;FLJ12529;FLJ39024;MGC9315 CPSF 59 kDa subunit;OTTHUMP00000211664;OTTHUMP00000211667;OTTHUMP00000211668;OTTHUMP00000211669;OTTHUMP00000238218;cleavage and polyadenylation specificity factor 59 kDa subunit;cleavage and polyadenylation specificity factor subunit 7;cleavage factor Im complex 59 kDa subunit;pre mRNA cleavage factor I, 59 kDa subunit;pre-mRNA cleavage factor I, 59 kDa subunit;pre-mRNA cleavage factor Im 59 kDa subunit protein-coding ENSG00000149532 30098 16906 VALIDATED 1313382 CPT1C carnitine palmitoyltransferase 1C This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 19 19 q13.33 54886219 54908800 + 50194365 50216988 + 1580863;6480464;6484113 18385088;18192268;15489334;14702039;12477932;12376098;11001805;11095714;15342556;15363638;15613406;16778180;17018521;17478525;19694967;20864405;19913121;20628086;20877624;21576264;21961029 126129 M0QZ13;M0R0D3;M0R115;M0R1F9;M0R2B9;M0R2H6;M0R2V3;M0R399;Q8TCG5 AB208884;ABBA01032913;AC011495;AF331918;AF357970;AK074389;AK096516;AK289713;AK290092;AK299866;AK309087;AL831876;AMYH01009917;AMYH01009918;BC029104;BP194020;CH471177;NM_001136052;NM_001199752;NM_001199753;NM_152359 AAH29104;AAL99615;AAQ14875;ABM82478;ABM85665;BAB85068;BAD92121;BAF82402;BAF82781;BAG53311;BAG61720;CAD38561;EAW52523;EAW52524;EAW52525;EAW52526;EAW52527;EAW52528;EAW52529;EAW52530;EAW52531;EAW52532;EAW52533;NP_001129524;NP_001186681;NP_001186682;NP_689572;Q8TCG5 Hs.112195 1685514;2161998;5015619;5037552;5096611;5117897 D11S3114;D8S2279;GDB:631813;RH78656;RH91103;SHGC-30929 CATL1;CPT1-B;CPT1P;CPTI-B;CPTIC;FLJ23809 CPT IC;CPT1-B;CPT1-like pseudogene;CPTI-B;carnitine O-palmitoyltransferase 1, brain isoform;carnitine O-palmitoyltransferase I, brain isoform;carnitine acyltransferase-like protein 1;carnitine palmitoyltransferase I related C APPROVED protein-coding ENSG00000169169 18540 12315 608846 REVIEWED 735945 CPT1A carnitine palmitoyltransferase 1A (liver) The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q13.2 68278664 68365881 - 68522088 68609399 - 1600732;1300048;1580863;2311345;2311344;2317584;5683635;6480464;6484113;7240710 9691089;16751799;19553925;19430727;15685545 7892212;19217814;19181627;18996102;18385088;18253084;17452323;17445541;17089095;16806233;16697732;16344560;16271724;16246309;15846373;15669684;15647998;15489334;14711372;14517221;12477932;12464674;12189492;12111367;11441142;11350182;11001805;10408760;9070950;9070836;11095714;22871568;19913121;20602615;20628086;20696606;18029348;20843525;20877624;20638986;20937660;20124555;20562859;11257506;16054041;20301700;20691246;22533991;21348853;21484929;22278432;21988832;21987572;21990363;21726808;21252943;21139048;21763168;21890473;21906983;21963094;22045927;22286219;21962599;22939629;23090344;23251661 1374 B2RAQ8;H3BMD2;H3BP22;H3BUJ0;H3BUV7;P50416;Q8WZ48 AA632225;ABBA01023981;ABBA01023982;ABBA01023983;ABBA01023984;ABBA01023985;AJ420378;AJ420747;AJ420748;AK025307;AK172798;AK309464;AK314301;AMYH01003766;AP000808;AP003732;BC000185;BT009791;CH471076;DB063502;L39211;NG_011801;NM_001031847;NM_001876;X83113 AAC41748;AAH00185;AAP88793;BAG36955;CAD12576;CAD12625;CAD59673;EAW74721;EAW74722;NP_001027017;NP_001867;P50416 Hs.503043 1650210;1737759;1773389;1775329;2148186;5014051;5015619;5016700;5021872;5022200;5022651;5037552;5117897 D11S1033;D11S1183;D11S2921;D11S3114;D11S3357;D8S2278;D8S2279;GDB:631813;L18426;RH79802;SHGC-32786;WI-11974;sY3084 CPT1;CPT1-L;L-CPT1 CPT I;CPTI-L;OTTHUMP00000237196;OTTHUMP00000237197;OTTHUMP00000237552;carnitine O-palmitoyltransferase 1, liver isoform;carnitine O-palmitoyltransferase I, liver isoform;carnitine palmitoyltransferase 1, liver;carnitine palmitoyltransferase I, liver APPROVED protein-coding ENSG00000110090 2328 02755 255120;600528 REVIEWED 1345373 CPXCR1 CPX chromosome region, candidate 1 This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q21.3 88237233 88244795 + 87888882 87896442 + 88002226 88009786 + 1580863;6480464 11499681;12477932;22808956 53336 Q8N123 ABBA01052013;ABBA01052014;AF284767;AK098646;AK313768;AL031116;AMYH01022676;BC027614;BU570042;CH471104;NG_021312;NM_001184771;NM_033048 AAH27614;AAK69720;ABM82606;ABM85791;BAC05363;BAG36506;EAW98549;EAW98550;EAW98551;NP_001171700;NP_149037;Q8N123 Hs.458292 1771847;2109191 CPXCR1_9763;DXS7669 CT77 CPX chromosomal region candidate gene 1 protein;OTTHUMP00000023634;OTTHUMP00000023635;cancer/testis antigen 77 APPROVED protein-coding ENSG00000147183 2332 06474 REVIEWED 736835 CPT2 carnitine palmitoyltransferase 2 The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008] 1 1 p32 53434689 53452455 + 53662101 53679869 + 1600742;734814;1300048;1580863;2317584;6480464;7240710 1528846;10873395;19430727 18363739;18306170;18024217;17936304;17709715;17651973;17179390;16996287;16710414;16671104;16670153;16168441;15754283;15647998;15642848;15622536;15489334;14615409;14605500;12971426;12707442;12477932;12410208;12408750;11994355;11855939;11477613;11001805;10607472;10090476;9758712;9600456;8651281;8499929;8358442;8125298;8086471;7896283;7892212;2174799;1961767;11095714;7711730;1988962;11257506;16054041;19362304;18996102;18645163;18550408;19913121;20602615;20628086;20810031;18029348;20877624;20934285;20538056;19762733;20370797;20952238;20186120;21697855;21641254;21277129;20301431;22493507;21913903;23322164 1376 P23786;Q53G79 ABBA01074743;AK223052;AK312687;AL606760;AMYH01000626;BC002445;BC005172;BU629852;CH471059;CQ789417;HC892329;HC898236;HC901564;M58581;NG_008035;NM_000098;U09646;U09648;X78707 AAB59462;AAB60382;AAB60383;AAH02445;AAH05172;BAD96772;BAG35567;CAA55360;CAG24446;CBN60633;CBN63525;CBN65242;EAX06753;NP_000089;P23786 Hs.713535 1676886;1694936;1742413;1766375;1779322;2120086;2143308;2159817;2164721;2218426 CPT2_4186;D1S1890E;G44359;GDB:196859;RH64517;RH99332;SHGC-149721;SHGC-153324;SHGC-17418;SHGC-74836 CPT1;CPTASE;IIAE4 CPT II;OTTHUMP00000010493;carnitine O-palmitoyltransferase 2, mitochondrial;carnitine palmitoyltransferase 2;carnitine palmitoyltransferase II APPROVED protein-coding ENSG00000157184 2330 02802 255110;600649;600650;608836;614212 REVIEWED 1345488 CPXM2 carboxypeptidase X (M14 family), member 2 10 10 10 q26.13 119210810 119357101 - 125495142 125641490 - 125505152 125651500 - 737633;1580863;6480464 12477932 15489334;15231748;12975309;9809751;16385451;20379614 119587 Q49AT5;Q8N436 ABBA01015459;AC009987;AC068058;AK296365;AK300506;AK304023;AK304814;AL833732;AMYH01003150;AMYH01003151;AY358565;BC027623;BC036789;BC137492;BC146862;CH471066;NM_198148 AAH27623;AAH36789;AAI37493;AAI46863;AAQ88928;BAG59040;BAG62219;BAG64938;BAG65564;CAH56260;EAW49279;NP_937791;Q8N436 Hs.656887 1335720;1709026;1788440;1936198;2113108;2123217;2145838;7184432 D10S216;D10S2463;G17478;REN38936;RH46887;SHGC-79582;fd49g09.y1 CPX2;UNQ676 4632435C11Rik;OTTHUMP00000020688;carboxypeptidase Hlo;carboxypeptidase-like protein X2;cytosolic carboxypeptidase;inactive carboxypeptidase-like protein X2 protein-coding ENSG00000121898 26977 08517 VALIDATED 1345667 CPVL carboxypeptidase, vitellogenic-like The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. [provided by RefSeq, Jul 2008] 7 7 7 p15.1 29024825 29175706 - 29001772 29152678 - 29035247 29186153 - 1580863;6480464 17353931;17903298;16303743;15489334;14702039;12975309;12853948;12690205;12477932;11401439;11042152;10610771;10527689;9780222;8125298;19734545;20379614;20460425;20562859;17207965;21911749;21139048;21555454;21890473;22505724 54504 C9J6L4;C9JI22;C9JLV0;C9JVI2;C9JZ94;H7C0X5;H7C218;Q9H3G5 AACC02000007;ABBA01056793;ABBA01056794;ABBA01056795;AC005162;AC005232;AC007096;AF106704;AF217508;AF282617;AK075433;AK124472;AK225545;AMYH01017140;AY358549;BC016838;CH236948;CH471073;NM_019029;NM_031311 AAC23787;AAF67619;AAG14348;AAG37991;AAH16838;AAQ88913;AAS07545;ABM82380;ADQ32627;BAC11618;BAG54041;EAL24207;EAW93914;EAW93915;EAW93916;EAW93917;EAW93918;NP_061902;NP_112601;Q9H3G5 Hs.233389 1650710;1674266;1711846;2115696;2145404;2153194;5092874 A009B25;G31127;G32385;G49454;GDB:1317322;RH11673;SGC31707 HVLP;MGC10029 CP-Mac carboxypeptidase;OTTHUMP00000122610;OTTHUMP00000122611;OTTHUMP00000202520;OTTHUMP00000202581;VCP-like protein;carboxypeptidase WUG;probable serine carboxypeptidase CPVL;vitellogenic carboxypeptidase-like protein APPROVED protein-coding ENSG00000106066 14399 07479 609780 REVIEWED 1603411 CR1 complement component (3b/4b) receptor 1 (Knops blood group) This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008] 1 1 q32 205736096 205881733 + 207669473 207815110 + 6480464;6907045;7240710 2972794;19344414;19131551;19048480;18954403;18954261;18937792;18929826;18842294;18713965;18709693;18684861;18434253;18182380;18075277;18028942;17999656;17709521;17467802;17207243;16433910;16426237;16360013;16289666;16277654;16133175;15864913;15733500;15728520;15660833;15578041;15529364;15526369;15388259;15381817;15176657;15163541;15072851;15069174;14694201;14635039;14556965;12869997;12773320;12490287;12486610;12477932;12091241;12083416;11981823;11955431;11896343;11884446;11694537;11313284;11120776;10737800;10698335;10528211;10528197;10382758;9988761;9614933;9230440;9089986;8422437;8245463;6978375;6572933;6230413;6223944;6222138;6126949;6115248;4019777;3782802;3736743;3305706;3157763;3156931;3155774;3031685;3014040;2989379;2977721;2971757;2959289;2951479;2933745;2877046;2564414;2551147;2531419;2478758;2411809;2295627;22343410;1827486;1708809;1708808;1670949;7690834;21460840;20534741;20558149;20558387;20670356;20697030;20739100;19480840;19578791;19734903;19874218;19906204;19959855;20237496;20379614;20459687;20538029;20889874;20646210;20795311;20951238;20554627;20702729;20855594;20674675;21460841;21663961;21251929;21391232;21300948;22237765;21700265;21459435;21727667;21839519;21985366;23650005;21912625;21784344;21659422;21726919;21347408;10531307;21593778;6910481;23390291;23440418;22015308;22262751;22539578;22291609;21358043;21403675;22402018;23202439;23152904;22333472;22962438;22374251;22960360;22819390;22888138;22952074;23022416 1378 E9PDY4;E9PQN4;H0YE06;P17927;Q5SR44 ABBA01048243;ABBA01048244;ABBA01048245;ABBA01048246;ABBA01183006;AF169969;AF169970;AF264715;AF264716;AK298486;AK309342;AL137789;AL691452;AMYH01001681;AMYH01001682;AMYH01001683;AMYH01001684;AMYH01001685;AMYH01001686;AMYH01001687;AMYH01001688;AMYH01001689;AMYH01001690;AY701493;AY701494;AY701495;AY701496;AY701497;AY701498;AY701499;AY701500;AY701501;AY701502;AY701503;AY701504;BC032550;BF900429;BX113709;BX643705;CH471100;L17390;L17418;M11569;M11617;M11618;M31241;NG_007481;NM_000573;NM_000651;X05309;X14358;X14361;X14362;Y00816 AAA52297;AAA52298;AAA52299;AAB60694;AAB60695;AAD15289;AAG09139;AAG09140;AAG14442;AAG14443;AAV65566;AAV65567;AAV65568;AAV65569;AAV65570;AAV65571;AAV65572;AAV65573;AAV65574;AAV65575;AAV65576;AAV65577;BAG60695;CAA28933;CAA32538;CAA32540;CAA32541;CAA68755;CAE82047;EAW93480;NP_000564;NP_000642;P17927 Hs.334019 1334880;1340227;1649526;1693002;2124591;2141951;5020946;5037552;5121239;5125130 AL034227;D1S2538;D1S2782;D1S2796;D8S2279;L17971;RH11128;SHGC-33387;SHGC-35372;SHGC-35375 C3BR;C4BR;CD35;KN C3-binding protein;C3b/C4b receptor;CD35 antigen;Knops blood group antigen;OTTHUMP00000034454;OTTHUMP00000034544;OTTHUMP00000034545;OTTHUMP00000228813;OTTHUMP00000228815;complement component receptor 1;complement receptor type 1 APPROVED protein-coding ENSG00000203710 2334 00398 120620;607486;611162 REVIEWED 1347111 CRAC1 colorectal adenoma and carcinoma 1 7240710 10092300;12117880 338377 1334929;1336480;7187979 D15S118;D15S968 20574 1315836 CPXM1 carboxypeptidase X (M14 family), member 1 This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010] 20 20 20 p13 2839233 2845810 - 2722715 2729282 - 2774715 2781292 - 1580863;6480464 15489334;15146197;14759258;14702039;12975309;12477932;11780052;10073577;16344560;18624398 56265 Q8N2F1;Q96SM3 ABBA01053798;AI470029;AK027661;AK075508;AK075527;AK303142;AK315027;AL035460;AL541188;AMYH01011669;AMYH01011670;AW874578;AY358956;BC032692;BC063430;BX366559;CH471133;CN308423;CS208031;DB252546;HB867216;NM_001184699;NM_019609 AAH63430;AAQ89315;BAB55275;BAC11661;BAC11672;BAG64246;CAJ44941;CBF57594;EAX10575;NP_001171628;NP_062555;Q96SM3 Hs.659346 CPX1;CPXM OTTHUMP00000030039;carboxypeptidase x (m14 family);carboxypeptidase-like protein X1;metallocarboxypeptidase CPX-1;probable carboxypeptidase X1 APPROVED protein-coding ENSG00000088882 15771 07099 609555 REVIEWED 1348835 CR1L complement component (3b/4b) receptor 1-like 1 1 1 q32.1 181048945 181127502 + 205885081 205963659 + 207818458 207897036 + 6480464 19060910;16344560;14687939;12477932;10737800;2295627;21700265 1379 Q2VPA4 ABBA01048242;ABBA01048243;AL137789;AL365178;AMYH01001690;AMYH01001691;AY114160;BC109190;BC109191;BE842163;BE842176;BX094042;CS300531;DB337938;M31230;M31231;M31232;M31233;M31234;M31235;M31236;M31237;NM_175710 AAI09191;AAI09192;AAI60171;AAM47024;CAK32195;NP_783641;Q2VPA4 Hs.628568;Hs.655194 1658833;1695780;1770475;2124591;2152479;2160877 SHGC-33387;SHGC-53730;SHGC-76233;SHGC-76277;SHGC-76279;SHGC-82542 MGC129536 OTTHUMP00000034550;OTTHUMP00000233275;complement C4b-binding protein CR-1-like protein;complement component receptor 1-like protein protein-coding ENSG00000197721 2335 605886 VALIDATED 1320753 CR2 complement component (3d/Epstein Barr virus) receptor 2 This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 1 1 q32 205694293 205729863 + 207627645 207663240 + 1580863;6480464;6907045;7240710 2827171;11728339;2563370;19387458;19344414;19164292;19017934;18842294;18804116;18713965;18568448;18500464;18174230;17881405;17360460;17301948;17118449;16987062;16920989;16785534;16740600;16375923;16344560;16289966;15905540;15795251;15713468;15713467;15603708;15187133;14635039;14607925;12813023;12713795;12546713;12477932;12444129;12149502;12122212;11981823;11813981;11739509;11698449;11684127;11466369;11387479;10068037;9796912;8996252;8766552;8390533;8125298;7780154;7753047;7690834;7515913;3782802;3016712;2832506;2528587;2161885;1849076;1831222;1830068;1708808;1702139;1424280;1383329;1323059;181330;8474169;16806233;16803874;2565927;9804823;22673213;20558730;20951140;21106852;15138285;19187965;19193442;19359041;19360456;19487031;19524299;19666505;19740327;20083651;20091675;20237496;21269698;21490949;21527715;22899340;21889131;23002439;23279883;22084433;22137275;22678901;21052675;20301476;21161615;21328056;22885687 1380 C9J0D9;P20023;Q5SR47 ABBA01048246;AI765035;AK223627;AK301496;AL391597;AL691452;AMYH01001681;AU133057;AW303499;BC032548;BC090937;BC136394;BQ004295;CH471100;J03565;M26004;M26016;M26317;NG_013006;NM_001006658;NM_001877;S62696;Y00649 AAA35784;AAA35786;AAB04638;AAB27186;AAH90937;AAI36395;BAD97347;BAG63007;CAA68674;EAW93481;EAW93482;EAW93483;NP_001006659;NP_001868;P20023 Hs.445757 1661817;1795618 CR2_6;SHGC-76269 C3DR;CD21;CR;CVID7;SLEB9 EBV receptor;OTTHUMP00000034421;OTTHUMP00000034447;OTTHUMP00000034449;complement C3d receptor;complement receptor type 2;epstein-Barr virus receptor APPROVED protein-coding ENSG00000117322 2336 00399 120650;610927;614699 REVIEWED 731300 CPZ carboxypeptidase Z This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 8487239 8514366 + 8645335 8672388 + 8594387 8621488 + 1580863;6480464 9099699;15489334;14702039;12477932;12417617;11766880;10671522;10080937;20379614;10737800;15489335;16344560 8532 D6RBI5;E7EQK1;Q66K79 ABBA01008701;AC105345;AI270606;AK056317;AK127844;AMYH01013930;AW139378;BC006393;BC018913;BC080539;BF993977;BX338482;CH471131;CV026874;DA050438;DA698835;DA704214;NM_001014447;NM_001014448;NM_003652;U83411 AAB58911;AAH80539;BAB71147;BAG54585;EAW82332;EAW82333;EAW82334;EAW82335;NP_001014447;NP_001014448;NP_003643;Q66K79 Hs.61995 1655999;1756081;2110193;2110195;2189087 G65151;SHGC-142877;SHGC-59629;stb301J.ca1b;stb301J10.p2 MGC99682 OTTHUMP00000115596;OTTHUMP00000217515;carboxypeptidase Z;metallocarboxypeptidase Z APPROVED protein-coding ENSG00000109625 2333 04376 603105 REVIEWED 1345653 CRABP1 cellular retinoic acid binding protein 1 This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008] 15 15 q24 76419750 76427622 + 78632666 78640572 + 1580863;6480464;6484672 21621639 1309505;19087254;18000064;17727842;17623056;17438526;17167179;16344560;16254461;15515157;15489334;15281009;14713576;14605320;12640681;12477932;9704013;9154115;9005841;2825608;1654334;15607035;8999826;20571834;20634891;21319273;16169070;20571827;21697133;21270509;21900206 1381 B5MCB5;F1T0F7;P29762 AB593091;ABBA01060584;AC011270;AI863257;AL110113;AMYH01006832;AU132726;BC022069;CH471136;CR457017;FB571429;NM_004378;S74445 AAB20773;AAH22069;ABM87829;ABW03735;BAJ84031;CAG33298;CAR95132;EAW99172;NP_004369;P29762 Hs.346950 1728941;2118755;2145418;2145420 Crabp1;D15S1227;STS-W95693;WI-20012 CRABP;CRABP-I;CRABPI;RBP5 OTTHUMP00000185023;cellular retinoic acid-binding protein 1;cellular retinoic acid-binding protein I APPROVED protein-coding ENSG00000166426 2338 07520 180230 REVIEWED 1347869 CRB2 crumbs homolog 2 (Drosophila) 9 9 9 q33.3 96766676 96789262 + 125158269 125180853 + 126118448 126141032 + 6480464 17988153;17190600;15851977;15164053;14767562;14702039;11439336;20299451;20583170 286204 Q5IJ48;Q8N930 ABBA01043724;ABBA01043725;ABBA01043726;ABBA01043727;AK095783;AK123000;AK124819;AK126775;AL365504;AL445489;AMYH01021699;AY720432;CH471090;NM_173689 AAU14134;BAC04626;BAC86684;EAW87567;EAW87568;NP_775960;Q5IJ48 Hs.710092 1680805;1682972 RH79586;RH94250 FLJ16786;FLJ38464;RP11-230L22.2 OTTHUMP00000022087;OTTHUMP00000162340;crumbs homolog 2;crumbs-like protein 2;protein crumbs homolog 2 protein-coding ENSG00000148204 18688 13093 609720 VALIDATED 1320564 CRB1 crumbs homolog 1 (Drosophila) This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012] 1 1 q31-q32.1 195504031 195714208 + 197170592 197447585 + 1600967;1600966;1580863;6480464;7240710 12632326;10508521 19407021;18682814;18334942;17988153;17724218;16936081;16767206;16710414;16543197;16505055;16272259;15914641;15623792;15459956;15024725;12843338;12700176;12573663;12567265;11927608;11850624;11734541;11559858;11389483;11231775;10373321;8646891;8001962;17353931;20956273;20591486;20805571;12477932;19753312;20032318;22863181;22876132;20801516;20816195;21757580;23077403;22219627;22065545;23001562;23449718;20301590;23379534;15174051 23418 A8K118;B7Z824;B7Z826;F5H0L2;F5H1K8;Q8WWY0 AB208923;ABBA01027591;ABBA01027592;ABBA01027593;ABBA01027594;ABBA01027595;ABBA01027596;AF154671;AJ748821;AK289733;AK299367;AK299368;AK302818;AK302826;AK307844;AL136322;AL139136;AL356315;AL513325;AMYH01001618;AMYH01001619;AMYH01001620;AMYH01001621;AY043322;AY043323;AY043324;AY043325;BC136271;BC143726;BX640729;CH471067;DC370545;DC370777;NG_008483;NM_001193640;NM_001257965;NM_001257966;NM_201253;NR_047563;NR_047564 AAF01361;AAI36272;AAL10680;AAL10681;AAL10682;BAD92160;BAF82422;BAH13017;BAH13018;BAH13810;BAH13812;CAE45845;CAG38658;EAW91277;NP_001180569;NP_001244894;NP_001244895;NP_957705;P82279 Hs.126135 1674746;1683689;1692682;1699142;1705706;1719903;1724145;1765195;1789222;2113668;2145164;2158561 AB072758;AFM329vc1;AL034109;G65609;RH103147;RH121207;RH123645;RH91397;SHGC-148695;SHGC-76093;SHGC-83435;STS-N59646 LCA8;RP12 OTTHUMP00000033687;OTTHUMP00000033690;OTTHUMP00000180665;crumbs homolog 1;protein crumbs homolog 1 APPROVED protein-coding ENSG00000134376 2343 05019 172870;600105;604210;613835 REVIEWED 1323669 CRAMP1L Crm, cramped-like (Drosophila) 16 16 16 p13.3 1876914 1940183 + 1604902 1667910 + 1664641 1727909 + 6480464 14702039;12477932;11157797;10718198 57585 A7MD53;B2RNX8;H7C194;J3KR07;Q96RY5 AB037847;ABBA01030299;ABBA01030300;AK056087;AK095591;AL031009;AL031708;AMYH01007039;BC137172;BC137173;BC152477;BE048705;BM451163;CH471112;NM_020825;Z97652 AAI37173;AAI37174;AAI52478;BAA92664;EAW85640;EAW85641;NP_065876;Q96RY5 Hs.603676 1777812 RH45262 HN1L;MGC176736;TCE4 Crm (Cramped Drosophila)-like;OTTHUMP00000082731;OTTHUMP00000211854;T-complex expressed gene 4;hematological and neurological expressed 1-like protein;protein cramped-like protein-coding ENSG00000007545 14122 13092 VALIDATED 1322237 CRADD CASP2 and RIPK1 domain containing adaptor with death domain The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. [provided by RefSeq, Jul 2008] 12 12 q21.33-q23.1 92595282 92768663 + 94071151 94244532 + 1580863;6480464;6484113 22279524;15073321;16652156;9044836;18391951;17329820;16434054;15489334;12477932;11832478;11156409;11002417;10713730;9806843;9695946;8985253;8889549;8617505;16169070;19125251;20208132;20237496;20406701;16360037;20546612;20677014;19593445;21832049;21415862;22623531;20881960;21988832;23535033 8738 B7Z2Q5;F5H7C2;F8VV49;F8VVY5;P78560;Q53XL1 AA150833;AB451280;AB451412;ABBA01053371;ABBA01053372;AC012085;AC012464;AC025261;AI791547;AK296225;AK314861;AMYH01004660;BC017042;BC037905;BT009837;CD696130;CH471054;CR407643;NG_032159;NM_003805;U79115;U84388 AAB42217;AAC50952;AAH17042;AAH37905;AAP88839;ABM82706;ABM85890;BAG37377;BAG58948;BAG70094;BAG70226;CAG28571;EAW97497;NP_003796;P78560 Hs.38533;Hs.591016 1337242;1668232;1674753;1696924;1722565;1746485;1746593;1746639;1749943;1846753;2137821;2142885;2149652;2182372;2186450;2217190;5105218 CRADD_3916;D12S1037;D12S1044;D12S1346;D12S394;G60211;G64465;G64466;G64524;G64526;RH101930;RH11222;RH46265;RH68127;SHGC-111655;SHGC-36307;SHGC-54268 MGC9163;MRT34;RAIDD OTTHUMP00000243498;RIP-associated ICH1/CED3-homologous protein with death domain;RIP-associated protein with a death domain;caspase and RIP adapter with death domain;caspase and RIP adaptor with death domain;death adaptor molecule RAIDD;death domain containing protein CRADD;death domain-containing protein CRADD APPROVED protein-coding ENSG00000169372 2340 04584 603454;614499 REVIEWED 1350289 CRAT carnitine O-acetyltransferase This gene encodes carnitine acetyltransferase (CRAT), which is a key enzyme in the metabolic pathway in mitochondria, peroxisomes and endoplasmic reticulum. CRAT catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acylCoA/CoA in the subcellular compartments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 q34.1 130896894 130912904 - 131857073 131873070 - 1580863;6480464 7829107;15489334;15099582;12562770;12526798;12477932;12077440;11001805;7945262;1456745;19913121;20628086;20677014;20877624;16756494;19553674;20178365;22002062;23485643;2351134 1384 A6PVN3;B7ZBP5;F2Z2C5;H0Y4Z7;H7C0E1;P43155 ABBA01043916;AK313931;AL158151;AL523652;AMYH01021754;BC000723;BI460020;BI752361;BQ068230;BT006801;CH471090;NM_000755;NM_001257363;X78706;X79825 AAH00723;AAP35447;CAA55359;EAW87873;EAW87874;EAW87875;NP_000746;NP_001244292;P43155 Hs.12068 1786984;1800772;1806662;1809516;1813756;1814094;1814388;1815770;1816426;1817028;1817516;1820880;1821418;1822936;1824678;1826368;1829802;1834378;1836112;1840754;1930790;1930792;1930794;1930796;1930798;1930800;1930802;1930804;1930806;1930808;1930810;1930812;1930814;1930816;1930818;1930820;1930822;1930824;1930826;1930828;1930830;1930832;1930834;1930836;1930838;1930840;1930842;1930844;1930846;1930848;1930850;1930852;1930854;1930856;1930858;1930860;1930862;1930864;1930866;1930868;1930870;1930872;1930874;1930876;1930878;1930880;1930882;1930884;1930886;1930888;1930890;1930892;1930894;1930896;1930898;1930900;1930902;1930904;1930906;1930908;1930910;1930912;1930914;1930916;1930918;1930920;2171564;2208268;2208270;2208272;2208274;2208276;2208278;2208280;2208282;2208284;2208286;2208288;2208290;2218756 Bda93f06;CRAT_4187;ECD01248;ECD04288;ECD05750;ECD07901;ECD08076;ECD08223;ECD08923;ECD09255;ECD09563;ECD09808;ECD11516;ECD11793;ECD12556;ECD13437;ECD14297;ECD16034;ECD18337;ECD19217;ECD21568;REN36224;REN36225;REN36226;REN36227;REN36228;REN36229;REN36230;REN36231;REN36232;REN36233;REN36234;REN36235;REN36236;REN36237;REN36238;REN36239;REN36240;REN36241;REN36242;REN36243;REN36244;REN36245;REN36246;REN36247;REN36248;REN36249;REN36250;REN36251;REN36252;REN36253;REN36254;REN36255;REN36256;REN36257;REN36258;REN36259;REN36260;REN36261;REN36262;REN36263;REN36264;REN36265;REN36266;REN36267;REN36268;REN36269;REN36270;REN36271;REN36272;REN36273;REN36274;REN36275;REN36276;REN36277;REN36278;REN36279;REN36280;REN36281;REN36282;REN36283;REN36284;REN36285;REN36286;REN36287;REN36288;REN36289;SHGC-145966;stSG628190;stSG628191;stSG628192;stSG628193;stSG628194;stSG628195;stSG628196;stSG628197;stSG628198;stSG628199;stSG628200;stSG628201 CAT1 CAT;OTTHUMP00000161683;carnitine O-acetyltransferase;carnitine acetylase;carnitine acetyltransferase APPROVED protein-coding ENSG00000095321 2342 08971 600184 REVIEWED 731412 CRABP2 cellular retinoic acid binding protein 2 This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010] 1 1 q21.3 154936027 154941999 - 156669398 156675608 - 1580863;6480464;6771322;6484672 15950969;21621639 1654334;1334086;19173001;18955045;18343808;17484622;17187826;16979656;16912187;16710414;16215318;15870697;15866176;15489334;15225641;14766225;12844477;12482873;12477932;11909957;10531482;9737883;9737849;9600845;9238678;9154115;8381448;8048948;7704533;7563063;1321791;1309505;8999826;22153617;18029348;20019841;20308937;20413122;21319273;22275178;15342556;16211222;16237707;16344560;17553814;17893666;19173612;19648781;20622962;21414315;21605859;21697133;21998312;21139048;21693764;21890473;21906983;22010213 1382 P29373;Q5SYZ4 AB593017;ABBA01016650;AK312007;AL590666;AMYH01001438;AU126559;BC001109;BP231157;BT019827;CH471121;CR450357;M68867;M97815;NM_001199723;NM_001878 AAA52068;AAA58430;AAH01109;AAV38630;ABM83191;ABM87850;BAG34945;BAJ83972;CAG29353;EAW52921;EAW52922;NP_001186652;NP_001869;P29373 Hs.405662 1685309;2151379;2218428;5022016;5120862 CRABP2;CRABP2_2897;GDB:376729;RH69209;RH80810 CRABP-II;RBP6 OTTHUMP00000038730;OTTHUMP00000038732;cellular retinoic acid-binding protein 2;cellular retinoic acid-binding protein II APPROVED protein-coding ENSG00000143320 2339 08353 180231 REVIEWED 1321492 CRBN cereblon This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 p26.2 3130511 3160615 - 3166695 3196390 - 3191317 3221401 - 737633;1580863;6480464;7240710 12477932 22542470;17380424;15557513;15489334;14702039;10932263;10931946;21145461;16964240;18414909;19615732;20131966;17207965;21232561;20223979;20360068;21860026;22698399;21139048;21890473;18029348;23000965;23218918;19295130;23026050;23233657 51185 J3QT51;J3QT87;Q96SW2 AA991754;ABBA01020485;AC024060;AF117230;AK027507;AK058191;AK123077;AK301423;AK312577;AL711072;AMYH01012945;BC017419;BC059171;BC067811;BX647351;CH471055;CR627060;DB456585;NG_016864;NM_001173482;NM_016302 AAF17211;AAH17419;AAH67811;ADQ31943;ADZ15415;BAB55162;BAG35471;BAG62951;CAH10361;EAW63890;EAW63891;EAW63892;EAW63893;EAW63894;EAW63895;EAW63896;EAW63897;NP_001166953;NP_057386;Q96SW2 Hs.18925 1337046;1341781;1689947;2123258;2126731;2142165;2160362 D3S1560;D3S2777E;D3S3525;RH93809;SHGC-34652;SHGC-76662;WI-20982 DKFZp781K0715;MGC27358;MRT2;MRT2A OTTHUMP00000115288;OTTHUMP00000209554;OTTHUMP00000209555;protein cereblon;protein x 0001 APPROVED protein-coding ENSG00000113851 30185 16750 607417;609262 REVIEWED 1348954 CRB3 crumbs homolog 3 (Drosophila) This gene encodes a member of the Crumbs family of proteins. This protein may play a role in epithelial cell polarity and is associated with tight junctions at the apical surface of epithelial cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6404086 6407058 + 6415260 6418232 + 6464260 6467232 + 1580863;6480464 17988153;17646395;15976445;15489334;15146197;14718572;12975309;12771187;12527193;12477932;11964389;17332497;23439680 92359 Q9BUF7 ABBA01051456;AC010503;AF503290;AK000653;AK292956;AMYH01009373;AY103469;AY358684;BC002652;BC018409;BM129809;CH471139;CN403242;NG_029879;NM_139161;NM_174881 AAH02652;AAH18409;AAM23013;AAM44074;AAQ89047;BAF85645;EAW69083;EAW69084;EAW69085;EAW69086;NP_631900;NP_777377;Q9BUF7 Hs.150319 2218432 CRB3_4634 crumbs 3;crumbs protein homolog 3;protein crumbs homolog 3 APPROVED protein-coding ENSG00000130545 20237 16749 609737 REVIEWED 1601760 CRCP CGRP receptor component This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 q11.21 65217240 65256990 + 65579805 65619555 + 6480464 12482973;8622957;10067875;19053766;18636754;17853344;16406141;16344560;15636430;15592455;15489334;14702039;12490608;12477932;12391170;12128288;11937264;11804624;11754963;10903324;19913063;20099900;20379614;21223598;22939629;21906983;18654987;22074408 27297 C9J2T4;H7BY40;O75575 AACC02000112;ABBA01048995;ABBA01048996;ABBA01048997;ABBA01048998;AC068533;AF073792;AK023295;AK290553;AK303737;AK311829;AMYH01017484;AMYH01017485;BC040107;BC052570;BC105808;BI600330;BX647867;CH236961;CH471140;DA821665;DA955978;DB472426;NM_001040647;NM_001040648;NM_001142414;NM_014478;NR_024548;U51134 AAC25992;AAD05036;AAH40107;AAI05809;BAF83242;BAG34771;BAG64710;CAI46069;EAX07941;EAX07942;EAX07943;NP_001035737;NP_001035738;NP_001135886;NP_055293;O75575 Hs.300684 1697864;1772649;2106585;2120959;2140733;2171129;5014003;5016478;5020948;5022578 D17S1136;D1S1423;D7S2002;D7S706;G35510;GDB:1317206;GDB:434012;GDB:4585105;RCP9__5664;RH102459 CGRP-RCP;CGRPRCP;MGC111194;RCP;RCP9 CGRP-receptor component protein;CGRPRCP;DNA-directed RNA polymerase III subunit RPC9;OTTHUMP00000159905;OTTHUMP00000210319;OTTHUMP00000210320;OTTHUMP00000210321;RNA polymerase III subunit C9;calcitonin gene-related peptide-receptor component protein;hsC17 APPROVED protein-coding ENSG00000241258 17888 12089 606121 REVIEWED 1318829 CREB3 cAMP responsive element binding protein 3 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009] 9 9 p13.3 35722317 35727005 + 35732317 35737005 + 1580863;6480464;6907045 12805554;19779205;18391022;18189280;17296613;17192849;16940180;15705566;15489334;15001559;12477932;12271126;12138176;10984507;10675342;10629049;10623756;9389645;9271389;17054986;9658067;16189514;12235138;20546900;20473547;20195357;21988832;23023215;15845366;22004728;21906983;22009750;11384994 10488 O43889 ABBA01064987;AF009368;AF029674;AF211847;AF211848;AK299781;AK313635;AL133410;AMYH01019347;BC009402;BC010158;BG701230;BQ014045;CH471071;FJ263669;NM_006368;U59629;U88528 AAB69652;AAB84166;AAC04325;AAD09210;AAG43527;AAG43528;AAH09402;AAH10158;ABZ92397;ACN32251;BAG36394;BAG61663;EAW58350;EAW58351;NP_006359;O43889 Hs.522110 1670551;1768836;2134503;5018941 RH11800;RH79942;WI-19282;WI-20292 LUMAN;LZIP;MGC15333;MGC19782 CREB-3;OTTHUMP00000021348;basic leucine zipper protein;cAMP-responsive element-binding protein 3;cyclic AMP response element (CRE)-binding protein/activating transcription factor 1;cyclic AMP-responsive element-binding protein 3;leucin zipper proitein;leucine zipper protein;transcription factor LZIP-alpha APPROVED protein-coding ENSG00000107175 2347 606443 REVIEWED 1353300 CRCT1 cysteine-rich C-terminal 1 1 1 1 q21 125597793 125599296 + 150753602 150755105 + 152486978 152488481 + 6480464 16710414;16169070;12477932;11230159;21804549;23251661 54544 Q9UGL9 ABBA01049418;AJ243662;AL135842;AMYH01001399;BC119710;CH471121;CR457218;JB025804;NM_019060 AAI19711;CAB65093;CAG33499;CCV20020;EAW53379;NP_061933;Q9UGL9 Hs.110196 1696906;2187460 RH101920;SHGC-57801 C1orf42;NICE-1 OTTHUMP00000014328;cysteine-rich C-terminal protein 1;protein NICE-1 protein-coding ENSG00000169509 29875 16635 VALIDATED 1342471 CREB3L1 cAMP responsive element binding protein 3-like 1 The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013] 11 11 11 p11.2 46447593 46490563 + 46255804 46299548 + 46299228 46342972 + 1580863;6480464;6907045 17721195;21767813;16344560;12805554;12477932;12054625;9110174;8619474;23588368;21041443;21536545;21987447;22705851;8889548;23383089;2366175;23335989 90993 E9PK33;H0YEU7;Q96BA8 AB063321;ABBA01060749;AC116021;AF055009;AK075538;AK314072;AMYH01003533;BC014097;BC015781;BQ953032;CF131922;CH471064;DA693632;NG_033264;NM_052854 AAH14097;AAH15781;ABM86735;ABW03816;BAC01278;BAC11681;BAG36772;EAW68010;NP_443086;Q96BA8 Hs.405961 2150311 G29176 OASIS BBF-2 homolog;OTTHUMP00000232855;cAMP-responsive element-binding protein 3-like protein 1;cyclic AMP-responsive element-binding protein 3-like protein 1;old astrocyte specifically induced substance;old astrocyte specifically-induced substance protein-coding ENSG00000157613 18856 16751 REVIEWED 1317760 CREB3L3 cAMP responsive element binding protein 3-like 3 This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 19 19 19 p13.3 4093112 4112507 + 4104629 4124050 + 4153629 4173048 + 6480464;6907045 19679815;17875199;16713569;15221005;12805554;12477932;12039695;11353085;16469704;22262056;21994947;21693703;18029348 84699 B7ZL69;M0QYW7;Q68CJ9;Q9Y4A3 AB050902;AB073612;ABBA01056084;ABBA01056085;ABBA01056086;AC005620;AC016586;AK172839;AK313099;AMYH01009328;BC101504;BC101508;BC143609;BC143610;CH471139;DA210258;NM_001271995;NM_001271996;NM_001271997;NM_032607 AAC34469;AAI01505;AAI01509;AAI43610;ABZ92411;BAB47242;BAD18804;BAD38649;BAG35923;EAW69260;EAW69261;NP_001258924;NP_001258925;NP_001258926;NP_115996;Q68CJ9 Hs.247744 1783778;1783860 SHGC-108116;SHGC-86359 CREB-H;CREBH;HYST1481;MGC126553;MGC126557 CREB/ATF family transcription factor;cAMP-responsive element-binding protein 3-like protein 3;cyclic AMP-responsive element-binding protein 3-like protein 3;transcription factor CREB-H APPROVED protein-coding ENSG00000060566 18855 16752 611998 REVIEWED 1314429 CREB3L2 cAMP responsive element binding protein 3-like 2 This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 q34 137210265 137337386 - 137559725 137686847 - 6480464;6907045 19212619;18757431;17721195;17178827;17117415;12915480;12690205;12477932;20379614;20471519;21041443;20878102;21536545;20360068;18255255;19322201;15146197;19471022;21693764;21890473;21906983;22495181 64764 C9JPH0;H7C1W8;Q68D60;Q70SY1 AACC02000025;ABBA01001151;ABBA01001152;ABBA01001153;ABBA01001154;AC009263;AC022173;AJ549092;AJ549387;AK131517;AK293048;AL080209;AMYH01017966;AMYH01017967;BC015585;BC046181;BC063666;BC110813;BC131723;BQ711676;BX648300;BX649143;CH236950;CH471070;CN394705;CR749563;NM_001253775;NM_194071 AAH46181;AAH63666;AAI10814;AAI31724;ABZ92049;BAD18659;BAF85737;CAD79342;CAD79347;CAH18360;EAL24050;EAW83878;EAW83879;EAW83880;NP_001240704;NP_919047;Q70SY1 Hs.490273 1645941;1654674;1664474;1767581;1770277;1770279;1786238;2123080;2133291;2140166;2169012;2173904 A006D34;D7S1898;D7S2910;D7S737;G20729;GDB:1318288;GDB:4585629;SHGC-132011;SHGC-32616;SHGC-37420;SHGC-52613;STS-N24079 BBF2H7;MGC131709;MGC71006 B-ZIB transcription factor;BBF2 human homolog on chromosome 7;FUS/BBF2H7 protein;OTTHUMP00000208572;OTTHUMP00000208573;TCAG_1951439;basic transcription factor 2;cAMP-responsive element-binding protein 3-like protein 2;cyclic AMP-responsive element-binding protein 3-like protein 2 APPROVED protein-coding ENSG00000182158 23720 16391 608834 VALIDATED 1347233 CREB3L4 cAMP responsive element binding protein 3-like 4 This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 q21.3 127012147 127018583 + 152207021 152213456 + 153940315 153946840 + 6480464;6907045 17712038;16236796;12477932;12111373;11956138;11830526;12732631;16595651;17933519;18068530;16344560;21906983;22903471;22505724 148327 B4DMZ9;Q5T4K9;Q5T4L1;Q5T4L2;Q8TEY5 AA652478;AB052778;AB052781;ABBA01049459;ABBA01049460;AF394167;AF468007;AK297703;AK304259;AK304665;AL358472;AMYH01001409;AY049977;BC038962;BF681098;BX647716;CH471121;DB012316;NM_001255978;NM_001255979;NM_001255980;NM_001255981;NM_130898;NR_045658 AAH38962;AAL13157;AAL76113;AAO33070;ABZ92414;ACE87807;ACE87849;ACT64368;ACT64475;BAC45035;BAC45224;BAG60061;BAG65125;BAG65440;EAW53251;EAW53252;EAW53253;EAW53254;EAW53255;EAW53256;EAW53257;EAW53258;NP_001242907;NP_001242908;NP_001242909;NP_001242910;NP_570968;Q8TEY5 Hs.372924;Hs.744219 1688306;1778500;2117210;2141947;2164402;2218434 CREB3L4_4636;D1S2463;RH11825;RH63845;RH67852;WI-22571 AIBZIP;ATCE1;CREB3;CREB4;JAL;hJAL CREB-4;OTTHUMP00000035264;OTTHUMP00000035265;OTTHUMP00000035266;OTTHUMP00000035267;androgen-induced basic leucine zipper protein;attaching to CRE-like 1;cAMP responsive element binding protein 1;cAMP-responsive element-binding protein 3-like protein 4;cAMP-responsive element-binding protein 4;cyclic AMP-responsive element-binding protein 3-like protein 4;cyclic AMP-responsive element-binding protein 4;tisp40;transcript induced in spermiogenesis protein 40 APPROVED protein-coding ENSG00000143578 18854 06323 607138 VALIDATED 730886 CREB1 cAMP responsive element binding protein 1 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 q34 208102931 208171818 + 208394616 208470284 + 734815;734818;734817;734816;1580863;1625706;6480464;6484113;6907045;7240710 9616213;14614508;11967539;11557984;16891311 21172805;22293360;22267179;12091337;11988318;11909979;11698596;11377386;11313407;11175347;11160957;11156964;11046156;11018520;10909971;10886376;10720489;10650954;10567391;10074179;9792677;9558095;9413984;9388250;8887554;8688081;8628277;8449898;8384217;8381074;7809053;7621901;7619208;7608156;7554179;7551568;7505393;2142528;2142119;1966745;1831258;1655749;1461747;1386673;16339753;15691881;15073328;12196545;11259575;10866654;10848610;9786917;8663317;11500364;9671480;10506141;10945975;7565761;15897899;16007092;15961999;15806162;7769693;15454081;15688015;15879136;15837624;15753290;15694837;15691874;15615708;15588513;15579595;15500908;15489334;15340044;15153340;15082775;15077295;14962944;14764597;14761884;14754893;14742439;14702039;14646589;14597636;14597631;14580193;14523007;14506290;12851637;12829027;12805224;12773552;12743114;12720543;12690113;12676584;12622660;12567184;12552083;12519783;12477932;12437352;12391222;12391146;12368293;12235136;12220644;12200150;12198160;12183445;12162494;12145339;8552098;8798441;2974179;9687510;9770464;9829964;19351775;19340314;19289467;19251839;19244110;19223597;19211892;19201889;19199539;19196967;19194961;19164291;19156168;19138976;19136032;19070599;18988190;18930904;18922788;18801732;18792986;18775326;18717645;18713830;18678793;18676828;18660489;18626018;18606955;18599546;18554190;18511806;18485898;18483184;18457359;18396147;18375384;18287226;18189280;18160048;18070920;18034423;18024382;18022816;17975014;17909078;17889508;17827388;17822787;17805329;17786359;17727817;17724745;17712720;17661722;17646388;17592483;17573727;17565603;17565599;17565598;17565597;17548750;17507637;17476304;17460549;17455223;17449469;17426037;17389598;17310988;17300755;17289023;17276404;17202341;17169345;17082618;16978443;16963449;16920714;16896160;16822311;16820098;16598418;16483570;16449647;16306050;16227528;16207795;16207717;16169070;16158061;16134057;15999345;15917247;15901830;20473547;21325281;19913121;20033853;20628086;20643483;20682687;21483768;10781615;11013247;15733869;15964553;16223362;16282323;16293623;16325578;16675956;16799563;18029348;19001277;19113914;19298866;19416972;19426590;19473990;19517574;19531482;19548263;19553322;19561568;19578717;19614745;19632326;19632997;19718656;19762740;19797430;19815709;19822084;19822898;19844206;19874574;19875824;19956847;20018896;20037212;20089855;20097716;20100571;20101207;20160059;20198332;20198339;20219685;20237496;20402410;20468064;20533262;21268077;21295542;16980615;20211142;20685939;20943350;20498639;20541704;19279000;20536573;20805990;20881124;20936779;20032081;20693566;20599715;20136501;20407090;15276183;16330542;20624818;21084670;12665587;12776737;20407870;22127929;22939629;19842072;20573984;20945072;15585582;15703171;21034562;21705328;21784978;21075212;21079758;20447464;20398657;23020846;23086924;22349818;23213254;20403362;21398611;21215389;21706049;21734652;2138276;21598377;21997693;22726539;22469229;22570239;21497119;21644508;23038261;23127979;21212407;22198373;19861239;20974683;20979795;21998402;22072831;22219277;9873047;21832046;21988832;23000965;23195957;21139048;21890473;23185366;22185778;22505473;22609331;22627767;22669896;11572863;22294156;22383952;22510762;22922957;23055509;22027994;22180334;22253425;22285928;22271686;22325466;19786833;22318606;22561749;14635195;22574704;23049845;23168992;23462962;23032945;23382074;19100722;21315782;21816823;21956116;22743041;23019365;22539488;22386572 1385 B7Z7P1;C9J276;C9J4L5;C9J896;C9JBT4;C9JCI4;E7EWP8;F5H0V3;H7C1R5;H7C3I0;P16220;Q53X93;Q5U0J5 ABBA01062679;ABBA01062680;AC009298;AC079767;AK091534;AK095116;AK123952;AK126342;AK298740;AK302333;AK312747;AK315226;AMYH01011446;AMYH01011447;AW205606;AY347527;BC010636;BC095407;BT019509;CH471063;CR407617;CS542417;DC366797;M27691;M34356;NG_023299;NM_004379;NM_134442;S53722;S53724;S72459;S78693;S78695;X55545;X60003 AAA35715;AAA35716;AAA35717;AAB20597;AAB34949;AAB34950;AAD13869;AAH10636;AAH95407;AAQ24858;AAV38316;AAX88961;AAX93174;ABM82083;ABM85262;BAG35615;BAG37655;BAH12862;BAH13677;CAA39151;CAA42620;CAG28545;CAM91158;EAW70405;EAW70406;EAW70407;EAW70408;EAW70409;EAW70410;NP_004370;NP_604391;P16220 Hs.516646 1645173;1795620;2121818;2172435 CREB1_1411;D2S2634;RH67919;SGC35219 CREB;MGC9284 CREB-1;OTTHUMP00000163864;OTTHUMP00000163865;OTTHUMP00000206660;OTTHUMP00000206661;OTTHUMP00000206662;OTTHUMP00000206667;active transcription factor CREB;cAMP-response element-binding protein-1;cAMP-responsive element-binding protein 1;cyclic AMP-responsive element-binding protein 1;transactivator protein APPROVED protein-coding 2345 00442 123810;612160 REVIEWED 1319876 CREBL2 cAMP responsive element binding protein-like 2 cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008] 12 12 12 p13 17908970 17942189 + 12656098 12689308 + 12764831 12798041 + 1580863;6480464 9693048;14702039;12477932;9171997;8653712;23077088;19322201;23273568 1389 O60519;Q2PQI3 AB451461;ABBA01067844;ABBA01067845;AC008115;AF039081;AK002189;AK307202;AMYH01004291;BC104873;BC106052;BC112157;CH471094;CR542250;DQ307498;NM_001310 AAC32314;AAI04874;AAI06053;AAI12158;ABC24665;BAG70275;CAG47046;EAW96268;EAW96269;EAW96270;NP_001301;O60519 Hs.591156 1662121;1678607;1690984;1712146;1726041;1854263;2138126;2218438 CREBL2_4189;G41782;G54123;G62353;RH44732;RH80304;RH91260;STS-R64144 MGC117311;MGC138362 MHBs-binding protein 1;OTTHUMP00000239221;cAMP-responsive element-binding protein-like 2 APPROVED protein-coding ENSG00000111269 2350 07541 603476 REVIEWED 1603892 CREBRF CREB3 regulatory factor 5 5 5 q35.1 168516821 168599691 + 172415976 172496576 + 172483355 172566291 + 6480464 14702039;17353931;18391022;12477932;23071095 153222 E5RI19;I6L8F1;Q8IZG1 ABBA01044028;ABBA01044029;ABBA01044030;ABBA01044031;AC008378;AK122675;AK124117;AK291677;AK297424;AK300043;AMYH01015821;AMYH01015822;AMYH01015823;AY139008;AY174896;AY635785;BC041709;BC043185;BX647573;BX647768;CH471062;NM_001168393;NM_001168394;NM_153607 AAH41709;AAN28956;AAO18732;AAV34175;BAF84366;BAG53659;BAG54011;BAG61854;BAH12579;CAI46039;CAI46104;EAW61414;EAW61415;EAW61416;NP_001161865;NP_001161866;NP_705835;Q8IUR6 Hs.484195 1647182;1653263;1668218;1685648;1711906;1780552;1780744;2161175;2177015;5015961 D15S1477;D5S2648;G49564;RH36114;RH45822;RH91831;SGC44431;WI-11500;bac51086T;bac51877T C5orf41;DKFZp313F2319;DKFZp686G2059;LRF CREB3 regulatory factor;OTTHUMP00000223581;OTTHUMP00000223582;OTTHUMP00000223583;UPF0474 protein C5orf41;adult retina protein;luman recruitment factor;luman-recruiting factor;luman/CREB3 recruitment factor APPROVED protein-coding ENSG00000164463 24050 17308 VALIDATED 619552 CREBBP CREB binding protein This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009] 16 16 p13.3 3715056 3870122 - 3775055 3930121 - 1298794;1581226;1581227;734820;734819;1300048;1580863;2302032;2302137;2316155;2326123;5128512;5147892;6480464;6483358;6483503;6484113;6907045;7240710;5143919 12477714;16021471;10573006;10673499;12461753;16793760;16322555;19450511;17163421;16394250;11306337;19364912;20396958;18061509 8621548;11742995;9194565;7913207;8028671;12435739;12586840;8684459;15261140;12169688;19270680;19191321;19183483;19156168;19124506;19041714;19011377;18696186;18688873;18678383;18676374;18660489;18552833;18480431;18443043;18400184;18362468;18272581;18243132;18160400;18070920;17962194;17932106;17908689;17855048;17825790;17724614;17721610;17707401;17704997;17702016;17641689;17579344;17548929;17468767;17460549;17434128;17410209;17332504;17321669;17296583;17272271;17253932;17126870;17073437;17052327;16969114;16926151;16916647;16858508;16786139;16709925;16707484;16672767;16651533;16613851;16611888;16598755;16528103;16476742;16417649;16359492;16293623;16287980;16254053;16219772;16219677;16207717;16195339;16166624;16122695;16061203;16055710;16051665;16050810;16012757;16001085;15987788;15961999;15957955;15937088;15929978;15910736;15882811;15834423;15833741;15752756;15750622;15703171;15701835;15695802;15687488;15649887;15641773;15623506;15616580;15572674;15555599;15522869;15509593;15507449;15467747;15333839;15304484;15299023;15735682;15706485;15231748;15171256;15161102;15126506;15075319;15024056;14974086;14960326;14767476;14759370;14744133;14734447;18485870;12426395;18426857;11163245;10558993;9443979;15691881;15073328;12198160;12700228;11782371;9926942;11076796;17525332;10848596;9295363;12509444;9488450;12810069;9822653;15140884;11931769;9001254;11080476;11003650;11106745;10973497;10944526;10918613;10894151;10893273;10887155;10866662;10866654;10862050;10852958;10848610;10848577;10823891;10811635;10801418;10801129;10783242;10777539;10748110;10722728;10673036;10666450;10655477;10644760;10610177;10607594;10521456;10497212;10490106;10464260;10454579;10454341;10435624;10428834;10406465;10358095;10347196;10327051;10215616;10202154;10085149;10085123;10077561;10075717;10075656;10050886;9990060;9887100;9858599;9811832;9809062;9806899;9786917;10708567;9751061;14720327;14716005;14691252;14660657;14657027;14645221;14612417;14597638;13678586;12964026;12947046;12929931;12857754;12789342;12788643;12776737;12748286;12736710;12732631;12730195;12696060;12682370;12665568;12665567;12646247;12642036;12634356;12622724;12604599;9742083;9733868;9710619;9685505;9679056;9659901;9651391;9649342;9625762;9548485;9528808;9528793;9482849;9445475;9434765;9430642;9413984;9388250;9267036;9238849;9238046;9210395;9177780;9096323;9006899;8986769;8941362;8932363;8918891;8917528;8848048;8782817;8756728;8663317;8616895;8413673;7630403;7606928;2138276;1519642;16146763;16046164;16035254;15638724;15473004;15183343;15139295;16339753;15725353;15142377;12569367;12566391;12549909;12540838;12527917;12498683;12496368;12477932;12473110;12459554;12456660;12437352;12433930;12391146;12374746;12242694;12234245;12215533;12208951;12205094;12196545;12189208;12183445;12168567;12165799;12154097;12142048;12114483;12101239;12084707;12050117;11973335;11971985;11970865;11959977;11943779;11940655;11940575;11935299;11931765;11923478;11912212;11897665;11884585;11864910;11864601;11823864;11799127;11782467;11748222;11744733;11740489;11739381;11713256;11691934;11689696;11683914;11585930;11581372;11574547;11568182;11564893;11564891;11559821;11547919;11514544;11481323;11463834;11463815;11463380;11429405;11423988;11349124;11331617;11279015;11278547;11266503;11264541;11259575;11252719;11239394;11160671;11157802;11154691;11115394;11113179;12015309;11259590;12748276;11158331;10567404;15782138;2176177;16007092;15710329;15380363;15653507;15454081;15502848;15383283;15619633;15607964;15829968;15808510;9346901;15225550;10764767;15225551;20125191;20588308;17362989;20388487;20403362;21632823;20684013;11607033;11701890;12490527;15572696;15585582;15598887;15632413;15657427;15731352;15743834;15849193;15894584;15987677;15990875;15994095;18241676;18321663;21080944;16055500;16319895;16579968;17172643;17226766;19166313;19948376;20936779;11196199;19416967;22364282;20413592;20207472;20452968;20833730;12297501;16150697;16154098;16204234;16303757;16434701;16456924;16537920;16651408;16734381;16787918;16809786;18458062;18552123;18599546;18721470;20689175;16860316;16878156;17000779;17043108;17075044;18765668;20932315;10428837;15488321;16043483;16098148;16291753;16543236;16931570;17382325;17923090;17970752;18316612;18347063;19117933;19350377;19555349;19578754;19589780;19805293;19833603;19852432;20096957;9037008;9194564;9687573;20301699;20859991;17257825;21079758;10097092;10224118;10235267;10542243;10628748;10882110;10958685;11073948;14761981;14766010;15005629;15021911;15023334;15025563;15154850;15220471;15269212;18003620;18087039;20717166;9584200;9590696;9659924;9765204;9809067;14722092;17400812;17475621;17697320;17885668;17891136;21158719;9192892;9192902;9288775;21390126;21390130;10497242;23275444;19660582;20018896;20072153;20107328;20508149;20811636;10648616;11001584;16751102;16799563;19273602;20855292;21079652;21752352;10082512;15107417;17138826;17296604;17761676;19060202;22990118;21743959;20874444;21149449;20962278;21903422;22083956;8995708;9488451;19932681;19995607;20935208;21288140;21454660;21789216;10551785;11313407;16227615;11314014;15806143;16154084;23352794;23434580;9660935;21139048;21539536;21890473;22198284;22303793;15013777;17283070;19915063;21914189;21967847;21984751;22174411;22177454;22198373;22241478;22253417;22265015;17015689;17060459;19322201;19357310;19826003;20962272;22349818;17962807;18662994;22084066;22266860;22318606;22474372;22544934;22615488;7774816;9566918;15331439;15582653;20581830;21670263;23455922;9792714;23285190;23063576;23251661;23319000;23459443;16481475;18660751;20541704;22207202;22387215;22810585;23000965;9829964;14668346;20541699;20347598;21739721;22073215;22388726;22807441;22386572 1387 I3L0Q1;I3L293;I3L3I5;I3L466;Q92793 AB210043;ABBA01026749;ABBA01026750;ABBA01026751;AC004509;AC004651;AC004760;AC006111;AC007151;AK124320;AK304771;AMYH01007095;AMYH01007096;AMYH01007097;BC036486;CH471112;CS330044;HI574324;HI574326;NG_009873;NM_001079846;NM_004380;U47741;U85962;U89354;U89355 AAC08447;AAC17736;AAC51331;AAC51339;AAC51340;AAC51770;AAH36486;BAE06125;BAG65526;CAL00150;CBX47651;CBX47652;EAW85334;EAW85335;EAW85336;EAW85337;NP_001073315;NP_004371;Q92793 Hs.459759 1335865;1676728;1679493;1738865;1745913;1794642;1795622;1848865;1852454;1857943;2112914;2112918;2115964;2124807;2128104;2160027;2176653;2186244;2187823;2191027;5017693;5037552;5093394;7188393;7188395 A009N45;CREBBP;CREBBP_555;D16S2622-D16S3027;D16S2906;D16S3065;D16S3385;D16S3386;D8S2279;G32692;G64268;MARC_13559-13560:1000751712:1;PMC337043P1;RH65024;RH65203;RH66115;RH66116;RH68748;RH78556;SHGC-60562;STS-U89355;WI-22537;b10501s CBP;KAT3A;RSTS CREB-binding protein;OTTHUMP00000159801 APPROVED protein-coding ENSG00000005339 2348 02534 180849;600140 REVIEWED 1603614 CREBZF CREB/ATF bZIP transcription factor 11 11 11 q14 82677923 82685497 - 85046518 85053821 - 85368608 85376182 - 6480464 10871379;15705566;19016376;18719857;18657049;16344560;16343488;16282471;15489334;15146197;12477932;12235138;22134986;19690166;22983008;21603654;21994947;21906983;19322201;15231748;22798206;22707059 58487 E9PIM0;E9PRP7;H0YDC7;J3KN20;Q9NS37 ABBA01017336;AF039942;AK313471;AL045702;AL110236;AMYH01003847;AP000642;BC060807;BC093796;BC093798;BF063403;BM461709;BQ720558;CA843387;CH471076;CN275782;DB212122;DB546868;DQ128105;NM_001039618;NR_028024;NR_028025;NR_028026;NR_028027 AAD28325;AAH60807;AAH93796;AAH93798;AAZ42189;ABZ92408;BAG36256;EAW75103;NP_001034707;Q9NS37 Hs.535319;Hs.714910 1677144;1679648;1771254;1858057;2135196;2138165;5094701;5493121 MARC_10277-10278:998924460:1;RH46178;RH79791;RH99164;SGC30362;UniSTS:484378;WI-18180;WIAF-2104 FLJ94018;SMILE;ZF CREB/ATF bZIP transcription factor;HCF-binding transcription factor Zhangfei;OTTHUMP00000233207;SHP-interacting leucine zipper protein;Zhangfei;host cell factor-binding transcription factor Zhangfei protein-coding 24905 07340 606444 VALIDATED 1343993 CRG CHARGE association 1391 2354 1606026 CREB5 cAMP responsive element binding protein 5 The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 7 p15.1 28328521 28855112 + 28305465 28832036 + 28338940 28865511 + 6480464;6907045 21666788;22837378;8378084;19240061;18519826;15489334;14702039;12853948;12477932;11329013;9847074;8440710;18839057;20080650;20379614;21441570;21890473;23000965;23128233;15576338 9586 C9JN33;H0YFV2;H9KVC5;Q86UJ9 AACC02000007;AB209262;AB451409;ABBA01056781;ABBA01056782;ABBA01056783;ABBA01056784;ABBA01056785;ABBA01056786;ABBA01056787;ABBA01056788;ABBA01056789;ABBA01056790;AC003074;AC005013;AC005105;AC006331;AC006367;AC006980;AK057151;AK292916;AK300455;AK316187;AMYH01017138;BC059400;BG199550;BX282747;CH236948;CH471073;L05515;L05911;L05912;L05913;NM_001011666;NM_004904;NM_182898;NM_182899 AAA52072;AAC37525;AAC37526;AAC37527;AAH59400;AAP22329;AAS00387;BAD92499;BAF85605;BAG62175;BAG70223;BAH14558;EAW93908;EAW93909;EAW93910;NP_001011666;NP_004895;NP_878901;NP_878902;Q02930 Hs.437075 1337999;1660627;1685680;1695768;1706110;1706962;1711836;1711838;1711840;1711842;1728693;1756521;1778863;1779111;1786460;2139573;2157784;2174980;2181254;2182011;2184747;5022677 AFMA245YE5;CREB5;D7S2213;D7S2515;D7S2772;D7S2831;D7S773;G49449;G49450;G49451;G49452;G63718;GDB:1317536;RH69228;RH92718;SHGC-143554;SHGC-172599;SHGC-56017;SHGC-56018;SHGC-80093;SHGC-80979;SHGC-82531 CRE-BPA CREB-5;H_GS165L15.1;OTTHUMP00000122602;OTTHUMP00000122603;OTTHUMP00000202430;OTTHUMP00000202431;OTTHUMP00000202432;cAMP response element binding protein CRE-Bpa;cAMP response element-binding protein CRE-BPa;cAMP responsive element binding protein 5 isoform alpha;cAMP-responsive element-binding protein 5;cyclic AMP-responsive element-binding protein 5 APPROVED protein-coding ENSG00000146592 16844 09896 REVIEWED 1348156 CREG1 cellular repressor of E1A-stimulated genes 1 The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008] 1 1 q24 165776874 165789680 - 167510250 167523056 - 1580863;6480464 12477932;9710587;19536175;19064610;18472385;18267954;16710414;16344469;16303743;15489334;15340161;14702039;12975309;12934103;12358155;10815803;19413895;19769965;20951690;20060003;21195083;21263217;21939655;21872252;23518389;23040447 8804 O75629 ABBA01047243;AF084523;AK075375;AK095456;AK130006;AK315497;AL031733;AMYH01001484;AY359071;BC006786;BC008628;BI552369;CH471067;NM_003851 AAC34861;AAH06786;AAH08628;AAQ89430;ABM82057;ABM85236;BAC04550;BAG37881;BAG52125;EAW90794;EAW90795;NP_003842;O75629 Hs.5710 1772507;2154567 D1S3033;SHGC-75873 CREG OTTHUMP00000032606;protein CREG1 APPROVED protein-coding ENSG00000143162 2351 09897 REVIEWED 1350803 CREG2 cellular repressor of E1A-stimulated genes 2 2 2 2 q11.2 96168703 96207615 - 101331655 101370489 - 101964816 102003965 - 6480464 15489334;14702039;12477932;12408961 200407 Q580X0;Q8IUH2 AB046109;ABBA01073912;AC092570;AC099797;AK094970;AMYH01010814;BC032949;BC047514;CH471127;NM_153836 AAH32949;AAH47514;AAX82005;AAX88886;BAC04464;BAC22189;EAX01814;EAX01815;EAX01816;NP_722578;Q8IUH2 Hs.732289 1666429;1787528 SHGC-155589;WI-14835 OTTHUMP00000161280;protein CREG2 protein-coding ENSG00000175874 14272 16753 VALIDATED 1603954 CRELD2 cysteine-rich with EGF-like domains 2 22 22 22 q13.33 34233563 34242609 + 48698348 48707180 + 50312283 50321186 + 6480464 15489334;15340161;16919896;16238698;12975309;12477932;12137942;8125298;21900206;21963094;21988832 79174 A6PWM2;Q9BU47 ABBA01031320;AJ968414;AK225930;AK308535;AL671710;AL713788;AMYH01012887;AMYH01012888;AY358355;BC002894;BC050675;CH471138;DQ470676;DQ470677;DQ470678;DQ470679;DQ470680;NM_001135101;NM_024324 AAH02894;AAH50675;AAQ88721;ABF06668;ABF06669;ABF06670;ABF06671;ABF06672;CAH56485;CAI91316;EAW73483;EAW73484;NP_001128573;NP_077300;Q6UXH1 Hs.211282 1771133;2186035;5014051;5021872 D8S2278;RH45712;STS-H99879;sY3084 DKFZp667O055;MGC11256 OTTHUMP00000196972;OTTHUMP00000196973;OTTHUMP00000196974;OTTHUMP00000196975;OTTHUMP00000196976;cysteine-rich with EGF-like domain protein 2 protein-coding ENSG00000184164 28150 08455 607171 VALIDATED 1319745 CRELD1 cysteine-rich with EGF-like domains 1 This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 3 3 p25.3 9950506 9962090 + 9975524 9987097 + 1600967;1580863;6480464;7240710 12632326 10922384;18076106;16381901;16344560;16169070;15857420;15489336;15489334;12975309;12477932;12137942;11230166;11076863;20634891;16278904;17036335;19521671;8889548;21080147;21413875;22987595;22740159 78987 F8WBY3;H7C2L3;Q96HD1 ABBA01020396;ABBA01020397;AC018809;AF452623;AK314113;AL050275;AMYH01012965;AMYH01012966;AY358363;BC008720;BF182978;BM674728;BX358821;CD368927;CH471055;CR457380;DA145918;DN996843;NG_017069;NM_001031717;NM_001077415;NM_015513 AAH08720;AAM75206;AAQ88729;BAG36806;CAB43376;CAG33661;CAL38223;CAL38687;EAW64034;EAW64035;EAW64036;EAW64037;EAW64038;EAW64039;EAW64040;EAW64041;EAW64042;EAW64043;NP_001026887;NP_001070883;NP_056328;Q96HD1 Hs.9383 1337857;1341208;1740213;2140187;2140796;2146126;2146128;5017734 CRELD1;D3S1263;D3S1652;D3S3594;D3S3924;D3S4201;SHGC-31307;WI-11041 AVSD2;CIRRIN;DKFZp566D213 OTTHUMP00000158826;OTTHUMP00000207638;OTTHUMP00000207639;OTTHUMP00000207640;cysteine-rich with EGF-like domain protein 1 APPROVED protein-coding ENSG00000163703 14630 06206 606217;607170 REVIEWED 734061 CRHR1 corticotropin releasing hormone receptor 1 This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants, one of which represents a read-through transcript with the neighboring gene MGC57346. [provided by RefSeq, Jan 2012] 17 17 q12-q22 41217449 41268973 + 43697710 43913194 + 734822;734821;1580863;1358326;1626226;1581302;5147490;1626231;5147472;5147488;5147387;5147473;5130940;5130948;5147485;5491006;5507823;5508315;5508175;6480464;6907045 11988580;12973355;12942143;14724656;11036160;20860876;17550594;21774994;16113459;16484629;20096320;19663668;19409200;20472052;19572944;12576179 22194899;22467522;10598591;8243652;7692441;7585095;19336370;19247692;19220485;19210659;19131402;19124613;19098121;19086053;19081678;19022385;19019335;19006179;18996102;18981346;18838498;18818748;18801728;18622266;18565889;18539200;18496130;18452185;18384079;18325997;18250257;18239030;17959885;17913459;17667919;17597588;17532191;17463062;17376150;17330132;17318384;17258395;17170072;17047935;17015825;17010515;16959871;16906164;16815632;16734917;16721033;16550213;16415175;16412099;16297195;15992556;15784708;15670850;15498832;15450949;15365580;15293277;15252011;15206947;15203442;15192151;15142984;15128701;15100165;14764822;14684825;14657255;12784189;12519878;12504877;12477932;11861501;11606483;11425856;11416224;9757017;9661640;9423932;9253360;9178757;8889548;8612563;7916328;7811272;7590738;19913121;20010888;20602615;20628086;20673868;21789663;17294739;18240029;18772229;19409922;19432998;19433256;19453261;19527514;19548263;19590686;19596121;19607758;19697526;19723618;19736354;19750552;19801982;19844206;19874574;19878140;20029939;20161813;20233629;20351714;20368512;20374216;20403506;20452482;20468064;23131710;23177644;23239826;20843795;21123435;18577758;20594969;20702571;12036966;20630588;20967262;20734064;20699326;20957648;22957021;21508513;21438878;21976504;21976528;18292205;23576434;21917807;22247544;22258127;21810631;21605337;21843515;21752573;21998007;22018085;22360979;23644483;21487655;22234467;22378896;22322595;22350180;22504418;22504419;22573456;19915575;21292315;22948128;22341483 1394 B4DMR5;G3CIS4;H0YFR5;J3KSM0;J3QKP8;J3QQR1;J9JIC6;P34998 AB065967;AB451466;ABBA01031187;ABBA01031188;ABBA01031189;ABBA01031190;AC003662;AC106030;AC126544;AC217770;AC217771;AC217774;AC225613;AF039523;AF180301;AF369651;AF369652;AF369653;AF374231;AF488558;AMYH01008444;AY429529;AY457172;BC037967;BC096836;CH471233;CK299669;EU176016;HM852949;L23332;L23333;NG_009902;NM_001145146;NM_001145147;NM_001145148;NM_001256299;NM_004382;U16273;X72304 AAA35718;AAA35719;AAC50073;AAC69993;AAD52688;AAH96836;AAL39014;AAL46631;AAL46632;AAL46633;AAM55213;AAR19768;ABV80233;AEI52959;BAC06179;BAG70280;CAA51052;EAW93556;EAW93557;EAW93558;EAW93559;EAW93560;NP_001138618;NP_001138619;NP_001138620;NP_001243228;NP_004373;P34998 Hs.417628 1665056;1797438;5016500;5117504 CRHR1_2002;GDB:572879;GDB:572888;SHGC-12889 CRF-R;CRF-R-1;CRF-R1;CRF1;CRFR-1;CRFR1;CRH-R-1;CRH-R1;CRH-R1h;CRHR;CRHR1L;CRHR1f CRF-R-1;CRF-R1;CRFR-1;CRH-R-1;CRH-R1;corticotropin releasing hormone receptor variant 1e;corticotropin releasing hormone receptor variant 1g;corticotropin-releasing factor receptor 1;corticotropin-releasing factor type 1 receptor;corticotropin-releasing hormone receptor 1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000120088 2357 08830 122561 REVIEWED 735941 CREM cAMP responsive element modulator This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008] 10 10 p11.21 35455807 35541892 + 35415769 35501886 + 1581291;632385;1580863;6480464 15569686;12437578 21325296;8206879;7916662;19299714;18984674;18922788;18784739;18700132;18202121;18029348;17712720;17340624;17332439;17211988;17056544;16899810;16894555;16893891;16687568;16344560;16143638;16103121;16048633;15841182;15691874;15474076;15456763;15225122;15048659;14754893;14511788;12805554;12626549;12555239;12554693;12477932;12397208;12370343;12198160;11988318;11701720;11094064;11044457;10853989;10660577;10409662;10373550;10086359;9737722;9510963;9006899;8994192;8622971;8600391;8600390;8549766;8404858;7809053;7730336;1461747;11046156;21507395;20488182;20413592;11053263;16385451;19434522;19531482;20237496;20378615;16595651;21097497;23124208;21757709;15146197;15342556;21767532;22379092;11466319;22198373;22019623;22184122;21547497;21998402;21953500;22281835;22510021;21976679;22025620;17213182;8889548;21102463;23019580;22386572;21890473;21988832;23000965;23128233;23275563 1390 C9IYM9;C9J2J0;C9J5A7;C9JK96;C9K092;E9PAR2;E9PB41;E9PBM5;F8WB03;F8WDF2;G5E998;H7C4X0;J3KQC0;J3KR46;Q5W1B0;R4GN75 AA453346;AB209533;ABBA01033344;ABBA01033345;AF069065;AF212158;AF213899;AF217318;AF417233;AF417234;AK289379;AK290612;AK291566;AK301906;AL117336;AL157783;AMYH01002235;AMYH01002236;AU140010;AV707433;AW439476;AY292864;BC017117;BC041810;BC066342;BC090051;BE439480;BG573680;BG719264;BG720999;BI459432;BI561543;BP370901;BU193626;BU570307;BX379412;CB996061;CD358637;CD639591;CD640465;CD640977;CD686814;CH471072;CK300763;CN367927;D14825;D14826;DA756152;DR760671;DT220562;NG_029065;NM_001267562;NM_001267563;NM_001267564;NM_001267565;NM_001267566;NM_001267567;NM_001267568;NM_001267569;NM_001267570;NM_001881;NM_181571;NM_182717;NM_182718;NM_182719;NM_182720;NM_182721;NM_182723;NM_182724;NM_182769;NM_182770;NM_182771;NM_182772;NM_183011;NM_183012;NM_183013;NM_183060;NR_051971;NR_051972;NR_051973;NR_051974;NR_051975;S68134;S68271;U44836;Y08959;Z15159 AAB03751;AAC19383;AAC60616;AAC60617;AAF66158;AAF68266;AAF68682;AAH17117;AAH66342;AAH90051;AAN32655;AAN32656;AAP44115;BAA03562;BAA03564;BAA03565;BAA03566;BAA03567;BAD92770;BAF82068;BAF83301;BAF84255;BAG63333;CAA78858;EAW85916;EAW85917;EAW85918;EAW85919;EAW85920;NP_001254491;NP_001254492;NP_001254493;NP_001254494;NP_001254495;NP_001254496;NP_001254497;NP_001254498;NP_001254499;NP_001872;NP_853549;NP_874386;NP_874387;NP_874388;NP_874389;NP_874390;NP_874392;NP_874393;NP_877570;NP_877571;NP_877572;NP_877573;NP_898829;NP_898830;NP_898831;NP_898883;Q03060 Hs.200250 1653718;1661243;1683950;1797436;2113934;2149260;2151054;2168781;5015881;5015961 A005C47;CREM;CREM_2014;D15S1477;G07255;GDB:335751;RH46931;RH79198;RH80748;STS-N30098 CREM-2;ICER;MGC111110;MGC17881;MGC41893;hCREM-2 CREM 2alpha-b protein;CREM 2beta-a protein;OTTHUMP00000019442;OTTHUMP00000019443;OTTHUMP00000019444;OTTHUMP00000019445;OTTHUMP00000019446;OTTHUMP00000019447;OTTHUMP00000019448;OTTHUMP00000216727;OTTHUMP00000216745;OTTHUMP00000216746;OTTHUMP00000216747;OTTHUMP00000216748;OTTHUMP00000216749;OTTHUMP00000216750;OTTHUMP00000216785;OTTHUMP00000216791;OTTHUMP00000216792;OTTHUMP00000216822;OTTHUMP00000216835;OTTHUMP00000216838;OTTHUMP00000216839;OTTHUMP00000216840;OTTHUMP00000216842;OTTHUMP00000216843;OTTHUMP00000216844;OTTHUMP00000216845;OTTHUMP00000216859;OTTHUMP00000216860;OTTHUMP00000216861;OTTHUMP00000216917;OTTHUMP00000246777;OTTHUMP00000246778;cAMP response element modulator;cAMP-responsive element modulator;hCREM 2alpha-b protein;hCREM 2beta-a protein;inducible cAMP early repressor ICER APPROVED protein-coding ENSG00000095794 2352 00444 123812 REVIEWED 730946 CRH corticotropin releasing hormone Corticotropin-releasing hormone is secreted by the paraventricular nucleus (PVN) of the hypothalamus in response to stress. Marked reduction in this protein has been observed in association with Alzheimer disease and autosomal recessive hypothalamic corticotropin deficiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, this protein is also synthesized in peripheral tissues, such as T lymphocytes and is highly expressed in the placenta. In the placenta it is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of the hormone occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, this protein may act as a trigger for parturition. [provided by RefSeq, Apr 2010] 8 8 q13 67251173 67253252 - 67088612 67090846 - 1581300;1581301;704397;704394;704392;704396;704393;1358525;625745;1358326;704423;704425;704424;1580863;5147387;5147490;5490542;5508831;5508835;5490558;5508177;5508166;5508830;5508173;5508845;5490556;5490964;5490980;5491006;5490538;6480464;6907045 8541482;12051390;12606499;12429558;12565134;12559107;12644270;14675801;12361983;12942143;11908464;12663088;12450317;16484629;20860876;21684787;7477348;3502064;21549066;12782395;9652969;11564446;20060104;9037416;21589865;20458328;8387536;19409200;21741032 22535604;22703673;7867564;7585095;18329818;19527514;19453261;19404232;19258402;19246974;19190112;19177170;19131402;19127063;19086053;19031275;19019335;18996102;18844820;18838498;18818748;18803662;18662259;18597742;18456686;18404132;18384079;18295412;18234674;18212352;18182033;17959886;17766644;17693031;17676473;17667919;17568667;17554801;17068474;16984517;16740657;16734917;16675846;16639867;16523405;16446741;16309788;16303743;16245303;16222669;15883387;15816833;15591024;15489334;15468147;15126558;15077295;15072543;14706771;14698679;14675201;14667971;14576187;14573312;12853091;12784189;12734882;12679466;12583606;12477932;12154211;12114295;12062896;12011471;11936276;11932939;11854458;11555839;11511529;11406119;11341487;11182747;11168450;11140838;10822340;9783915;9620773;9178757;8386360;8243338;8161822;7589495;7489943;6605851;3262120;3259914;2783917;2365075;10598591;9423932;20602615;12036966;20472145;20140262;20626567;20943787;17294739;18240029;19409922;19450691;19460861;19628576;19723618;19874574;19889985;20043013;20047160;20368512;20403506;20468064;21289256;21765902;20727865;21106714;22763913;23076876;22734038;22869609;18801728;21261589;19379831;21525005;22533365;21360527;12895416;18559919;22045495;22360979;22666496;22073145;22234467;22201770;23477585;22608025;23644483;22768175 1392 P06850 ABBA01041870;AC090195;AK075431;AMYH01018772;BC002599;BC011031;BT007453;CH471068;NG_016127;NM_000756;V00571;X55962;X67661 AAH02599;AAH11031;AAP36121;BAG52136;CAA23834;EAW86897;NP_000747;P06850 Hs.75294 1645129;1645435;1648736;1847077 RH69917;STS-T54293;STS-V00571;UniSTS:16032 CRF OTTHUMP00000226787;corticoliberin;corticotropin-releasing factor APPROVED protein-coding ENSG00000147571 2355 07172 122560 REVIEWED 7174911 CRIP1P2 cysteine-rich protein 1 (intestinal) pseudogene 2 3 p24 25728326 25728752 + 9126610 641456 ABBA01025018;AC092798;AC093416;AMYH01013037;NG_005345 pseudo 44517 INFERRED 1603265 CRHR1-IT1 CRHR1 intronic transcript 1 (non-protein coding) 17 17 17 q21.31 40363242 40370496 + 41073731 41075613 + 43716341 43723595 + 6480464 14702039;12477932;8889548;19915575;21292315 147081 Q96LR1 ABBA01031189;AC126544;AC225613;AK057897;AK090656;AMYH01008444;BC069230;BU684887;NR_026905;NR_026906 BAB71609;Q96LR1 Hs.128813 1694590;1699890;2143537;5022651;5493755 D11S2921;G43288;RH103553;RH78010;UniSTS:494663 C17orf69;FLJ25168 APPROVED miscrna ENSG00000204650 26327 08052 PREDICTED 7174912 CRIP1P4 cysteine-rich protein 1 (intestinal) pseudogene 4 22 q11.2 25108198 25108625 + 9126610 641457 ABBA01055151;AMYH01012670;AP000358;NG_005346 pseudo 44519 INFERRED 730851 CRHBP corticotropin releasing hormone binding protein Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008] 5 5 q11.2-q13.3 76284436 76301055 + 76248680 76265299 + 1358530;1580863;5147387;5508840;5508845;5508785;6480464 14573312;16484629;10600923;9037416;19631474 7477348;1846945;19578876;19527514;19453261;19131402;19086053;19019335;18974851;18838498;18818748;18234674;17728670;17599466;16734917;16482088;16368564;15489334;15072543;12784189;12477932;9253360;8612563;8557170;8307998;8198617;8125298;7774945;2549150;17207965;20140262;21039637;19723618;19874574;20351714;20368512;20379614;20403506;13150566;15345745;18559919;21810631;22286724;21978546;23131710;22984453 1393 D6RHH7;P24387 ABBA01061975;AC027342;AK223457;AK307729;AK311052;AMYH01015423;AW451896;BC018038;CB959505;CH471084;CR541666;NM_001882;S60697;X58022 AAD13916;AAH18038;ADQ32339;BAD97177;CAA41086;CAG46467;EAW95785;EAW95786;NP_001873;P24387 Hs.115617 1681014;1857075;2107007;2144144;2178938;2180529;5017981 CRHBP;CRHBP_7770;D5S2443;RH75968;SHGC-36451;STS-N27552;STS-X58022 CRF-BP;CRFBP CRF-binding protein;CRH-BP;OTTHUMP00000128328;OTTHUMP00000222031;corticotropin releasing hormone-binding protein;corticotropin-releasing factor-binding protein;corticotropin-releasing hormone-binding protein APPROVED protein-coding ENSG00000145708 2356 08348 122559 REVIEWED 1343897 CRIP3 cysteine-rich protein 3 6 6 6 p21.1 44824971 44828289 - 43381189 43384508 - 43273211 43276530 - 6480464 15380775;15146197;14574404 401262 H0Y7Q9;Q5T045;Q6Q6R5 ABBA01050688;AI042209;AL583834;AMYH01016312;AY555741;AY555742;AY555743;AY555744;CH471081;CN282994;NM_206922 AAI46405;AAI48847;AAS66887;AAS66888;AAS66889;AAS66890;EAX04177;EAX04178;NP_996805;Q6Q6R5 Hs.653165 1778724 D6S1790 TLP;TLP-A;bA480N24.2 CRP-3;OTTHUMP00000016433;OTTHUMP00000195154;chromosome 6 LIM domain only protein;cysteine-rich protein 3;h6LIMo;thymus LIM protein TLP-A protein-coding ENSG00000146215 17751 16755 VALIDATED 733138 CRHR2 corticotropin releasing hormone receptor 2 The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] 7 7 p14.3 30659388 30688665 - 30691559 30739719 - 734823;1580863;1581302;1358326;734987;5130938;5130953;5131259;5130956;5147490;5131271;5147472;5130951;5131264;5130933;5130948;5147387;5130936;5130940;1642796;5491006;5490987;6480464 10742109;11036160;12942143;10742107;18408560;19429103;17586086;19211730;20860876;15911134;21774994;19439178;17050037;16855006;20096320;16484629;21235761;11087261;19409200;21330446 14724656;14592950;12853948;12784189;12690205;12477932;11857585;11416224;11226328;10822340;9423932;9199241;9070940;8612563;8243338;9717834;11329063;8536644;19527514;19453261;19433256;19351656;19131402;19098121;19086053;19058138;19019335;18996102;18838498;18818748;18443956;18384079;18325997;17959885;17532191;17463062;17170072;16972272;16884458;16734917;16721033;16691126;16326828;16175604;15652653;15489334;15331578;15146197;14764822;21338628;20602615;20673868;18577758;20594969;11117536;12036966;16344560;20140262;20734064;20630588;20966082;15924674;18240029;19813023;19874574;20164545;20351714;20368512;20452482;20468064;20487506;19417223;21832049;19437022;22234467;22467522;21487655;23177644;23168683 1395 B2R967;B3SXS6;B3SXT0;C9JZM9;F2Z2M6;F8WA81;Q13324 AACC02000087;AB065699;ABBA01056813;AC004976;AF011406;AF019381;AF361106;AF361107;AF361108;AK313661;AMYH01017151;AY449734;BC096830;CH471073;CN367943;CN367944;CS717260;CS717264;DA808296;DB308619;EU012439;EU012440;EU012441;EU012442;EU012443;NG_029169;NM_001202475;NM_001202481;NM_001202482;NM_001202483;NM_001883;U34587;Y10151;Y10152;Y10153 AAA91320;AAB94503;AAB94562;AAC71653;AAC71654;AAH96830;AAR18078;ABV59313;ABV59314;ABV59315;ABV59316;ABV59317;BAC05922;BAG36414;CAA71235;CAA71236;CAP40149;CAP40151;EAL24448;EAW93962;EAW93963;EAW93964;EAW93965;NP_001189404;NP_001189410;NP_001189411;NP_001189412;NP_001874;Q13324 Hs.546246;Hs.729970 1644420;1649573;1653774;1661053;2115029;2120971;2168307;2169733;2179820;2218758;5491950 AFMB050YD1;ATC-P10592;CRHR2;CRHR2__4637;D7S1538;GDB:1317464;GDB:4584951;GDB:4585173;GDB:4585185;GDB:4585461;RH18040 CRF-RB;CRF2;CRFR2;HM-CRF CRF-R-2;CRF-R2;CRF2 receptor, beta isoform;CRFR-2;CRH-R-2;CRH-R2;OTTHUMP00000158747;OTTHUMP00000202349;OTTHUMP00000202350;corticotrophin releasing hormone receptor 2;corticotropin-releasing factor receptor 2;corticotropin-releasing hormone receptor 2 APPROVED protein-coding 2358 03614 602034 REVIEWED 736668 CRIPT cysteine-rich PDZ-binding protein 2 2 2 p21 46683006 46691562 + 46697812 46705690 + 46844325 46852881 + 6480464 19086053;16713569;16637659;16091592;12477932;12070168;11937501;11744724;11042152;10570482;9581762;20398908;20966902;19322201 9419 Q9P021 ABBA01075139;AC018682;AF161488;AK291298;AMYH01010317;BC006979;BC006980;BC018653;BI857531;CH471053;NM_014171 AAF29103;AAH06980;AAH18653;AAY14836;ADZ15652;BAF83987;EAX00239;NP_054890;Q9P021 Hs.133998 2158242;2175997;5016793 Bdaa4f11;RH93353;SHGC-35061 HSPC139 OTTHUMP00000159029;cysteine-rich PDZ-binding protein;cysteine-rich interactor of PDZ three;cysteine-rich interactor of PDZ3;postsynaptic protein CRIPT protein-coding ENSG00000119878 14312 05208 604594 VALIDATED 1603324 CRISP1 cysteine-rich secretory protein 1 Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 6 6 p21.3 49909929 49942177 - 49801970 49844809 - 6480464 8838800;8543280;14574404;12477932;12206465;11750738;11566719;9685187;8665901;20378925 167 P54107 AB451334;AB451479;ABBA01050585;AK292497;AL359458;AMYH01016340;BC028577;BC131707;CH471081;D38451;NM_001131;NM_001205220;NM_170609;S80310;X95237;X95238 AAB35899;AAI60072;BAA07483;BAF85186;BAG70148;BAG70293;CAA64524;CAA64525;EAX04350;NP_001122;NP_001192149;NP_733758;P54107 Hs.109620 1686762;1703422;2113836;2133762 AEGL1;RH80559;SHGC-68799;STS-X95237 AEGL1;ARP;CRISP-1;HSCRISP1D;HSCRISP1G;HUMARP AEG-like protein;AEG-related protein;OTTHUMP00000016592;OTTHUMP00000217766;OTTHUMP00000217767;acidic epididymal glycoprotein homolog;acidic epididymal glycoprotein-like 1;cysteine-rich secretory protein 1;cysteine-rich secretory protein-1 delta;protein DE-like APPROVED protein-coding ENSG00000124812 304 03118 601193 REVIEWED 1602278 CRIPAK cysteine-rich PAK1 inhibitor CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008] 4 4 4 p16.3 1320611 1324377 + 1375340 1379782 + 1385340 1389782 + 6480464 16278681;14702039;12477932;22990118 285464 B3KX85;Q8N1N5 AA160784;ABBA01019363;AC118281;AK091762;AK096209;AK126919;AK128809;AMYH01013859;AMYH01013860;BC131709;CH471131;NM_175918 BAC03741;BAC04725;BAC87616;BAG54397;EAW82583;NP_787114;Q8N1N5 Hs.26410 1688060;2177211;5493753 Cda1ad08;STS-R98032;UniSTS:494655 FLJ34443;MGC150528 OTTHUMP00000149933;cysteine-rich PAK1 inhibitor;cysteine-rich inhibitor of PAK1 APPROVED protein-coding ENSG00000179979 26619 08753 610203 VALIDATED 1318641 CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like) This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010] 2 2 p21 36436901 36631782 + 36583370 36778278 + 1580863;6480464 10642437;19260139;15489334;15340161;12975309;12805376;12477932;12464430;11084657;21036735;21042576;21067317;21076409;20379614;21220699;21963094;23000965;21078624;21987572;21139048;21890473 51232 H7C1Z0;H7C2T6;H7C458;Q9NZV1 AB209139;ABBA01074958;ABBA01074959;ABBA01074960;ABBA01074961;ABBA01074962;ABBA01074963;ABBA01074964;ABBA01074965;AC007378;AC007401;AC009414;AF167706;AF168681;AK026159;AK300817;AMYH01010254;AY358371;BC026227;BC111989;BC113371;BX648755;CH471053;NM_016441 AAF34409;AAG37011;AAI11990;AAI13372;AAQ88737;AAX88862;AAY14649;AAY14679;BAD92376;BAG62472;EAX00426;NP_057525;Q9NZV1 Hs.699247 1336185;1655270;1728037;1752843;1755109;1757917;1764153;1764155;1850272;1852484;2145550;2147823;2158492;2178378 D2S2230;G63289;RH18547;RH69990;RH70058;RH70280;SGC33875;SHGC-106706;SHGC-142038;SHGC-146851;SHGC-147795;SHGC-147796;STS-AA035725;WI-10812 CRIM-1;MGC138194;S52 CRIM-1;OTTHUMP00000125267;cysteine-rich motor neuron 1;cysteine-rich motor neuron 1 protein;cysteine-rich repeat-containing protein S52 APPROVED protein-coding ENSG00000150938 2359 08392 606189 REVIEWED 1348993 CRIP1 cysteine-rich protein 1 (intestinal) Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008] 14 14 14 q32.33 86004651 86006568 + 105024594 105026171 + 105953257 105955126 + 1580863;6480464 9126610;15489334;14702039;12477932;9480758;8172605;7999070;1946385;16169070;17486081;18670594;9507743;22202598;22505724 1396 P50238 ABBA01008881;AK092741;AK098290;AL928654;AMYH01006084;BC002738;BQ128075;BT007181;BU500642;NM_001311;U09770;U58630 AAA64537;AAB61158;AAH02738;AAP35845;ABM83884;ABM87204;NP_001302;P50238 Hs.70327 2144202;5125785 RH65096;STS-U09770 CRHP;CRIP;CRP-1;CRP1;FLJ40971 CRP-1;OTTHUMP00000163906;OTTHUMP00000205799;OTTHUMP00000205800;cysteine-rich heart protein;cysteine-rich intestinal protein;cysteine-rich protein 1;hCRHP APPROVED protein-coding ENSG00000213145 2360 00469 123875 VALIDATED 1351980 CRIP2 cysteine-rich protein 2 This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 14 14 14 q32.3 85990016 85997894 + 105012176 105017545 + 105939275 105946507 + 1580863;6480464 8824798;16713569;15489334;14702039;12839623;12530967;12477932;10681529;8843343;8125298;20460109;21540330;21832049;21900206;22154084;10924333;12539241;15146197;20667089 1397 H0YFA4;H0YHD8;P52943 ABBA01008878;ABBA01008879;ABBA01008880;ABBA01008881;AK057837;AK091845;AK223251;AK300092;AK311402;AK315757;AL928654;AMYH01006082;AMYH01006083;AW173606;BC000434;BC001931;BC034151;BC034386;BC128101;BE271979;BQ684851;BT019911;CH471061;CN367966;D42123;HY078632;HY161884;NM_001270837;NM_001270841;NM_001312;NR_073081;NR_073082;NR_073083;NR_073084;NR_073085;U36190 AAB03194;AAH00434;AAH01931;AAH34151;AAI28102;AAV38714;ABM82308;ABM85485;BAA07703;BAD96971;BAG38110;BAH13206;EAW81924;NP_001257766;NP_001257770;NP_001303;P52943 Hs.534309 1668921;1690842;2107955;2137327 CRIP2_8273;RH15700;RH44854;SHGC-1100 CRIP;CRP2;ESP1 CRP-2;Cystein-rich intestinal protein;Cysteine-rich intestinal protein;LIM domain protein ESP1/CRP2;OTTHUMP00000028464;OTTHUMP00000218028;OTTHUMP00000243768;cysteine-rich protein 2 APPROVED protein-coding ENSG00000182809 2361 03113 601183 REVIEWED 1352578 CRISP3 cysteine-rich secretory protein 3 6 6 p12.3 49803048 49820015 - 49695089 49712168 - 1580863;6480464 15461460;21240253;12223513;8601434;12009203;12433721;19282327;19026612;17665393;17634540;16388501;15950934;15867000;15489334;14574404;12647793;12477932;11729383;10614782;8665901;8125298;17207965;20116414;20237496;16344560;20625511;20676114;20680031;22993349;21814574;23375721 10321 I3L0A1;J3KPA1;J3KQX0;P54108 ABBA01050586;AK223380;AK292786;AK303966;AK313387;AL121950;AL121974;AMYH01016340;BC069580;BC069602;BC101539;CH471081;DB206136;DB210604;NM_001190986;NM_006061;X94323;X95240 AAH69580;AAH69602;AAI01540;ADQ32928;BAD97100;BAF85475;BAG36185;BAG64890;CAA63984;CAA64527;EAX04348;NP_001177915;NP_006052;P54108 Hs.404466 1645299;1852352;2110333 CRISP3_9090;D6S1504;STS-X95240 Aeg2;CRISP-3;CRS3;MGC126588;SGP28;dJ442L6.3 OTTHUMP00000016590;OTTHUMP00000236204;OTTHUMP00000236205;cysteine-rich secretory protein 3;cysteine-rich secretory protein-3;specific granule protein (28 kDa);specific granule protein of 28 kDa protein-coding ENSG00000096006 16904 11788 VALIDATED 1605927 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 8 8 8 q21.11 71891960 71942045 + 76059531 76109348 + 75896708 75946793 + 6480464 15489334;12975309;12477932;21254358;15342556 83690 B7Z8V9;B7Z929;E5RJS4;Q9H336 ABBA01041992;AC100782;AC102801;AF142573;AF329197;AK304034;AK304350;AK314048;AL834301;AMYH01018800;AY358564;BC020514;BP357192;BU790187;CH471068;NM_031461 AAG43287;AAH20514;AAK16495;AAQ88927;ADZ15906;BAG36757;BAH14095;BAH14165;CAH56361;EAW87038;NP_113649;Q9H336 Hs.436542 1671484;1689638;1697752;1853504;2174810;2174812 G20223;RH102399;RH36903;RH48530;SHGC-32056;STS-G20223 CRISP10;DKFZp762F133;LCRISP1 CRISP-10;CocoaCrisp;LCCL domain containing cysteine-rich secretory protein 1;LCCL domain-containing cysteine-rich secretory protein 1;OTTHUMP00000226902;OTTHUMP00000226905;OTTHUMP00000226906;cysteine-rich secretory protein 10;cysteine-rich secretory protein LCCL domain-containing 1;trypsin inhibitor Hl protein-coding ENSG00000121005 18206 16756 VALIDATED 736380 CRK v-crk avian sarcoma virus CT10 oncogene homolog This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008] 17 17 p13.3 1272190 1306294 - 1324647 1359561 - 1580863;6480464;6484113;6907045 9461587;9395447;9366405;9092574;8879209;8875975;8810325;8662998;8662907;8657152;8621590;8621483;8378094;8194526;8035825;7855886;7797522;7657647;7529876;7512734;7509449;7509446;1690891;1630456;1379745;11279207;15492270;12615911;10085298;9920935;9581808;8940134;9178909;11827972;11431473;1545818;12819203;9393871;10644995;16729043;10559471;10022833;15696159;15735735;15719014;12807879;12738793;12730241;12628187;12621583;12477932;12475948;12454018;12446789;12384576;12370821;12198159;12154000;12138161;12054111;11956190;11911970;11870224;11839808;11466354;11432831;11380621;11369773;11316748;11314030;11287316;11146654;11097834;11071869;10970810;10964504;10899172;10854253;10753828;10733900;10720694;10648385;10571044;10464310;10419455;10362357;10329689;10208419;10092678;10092207;9891069;9845531;9837978;9722576;9674711;9642287;9614078;9546424;9497377;9480911;12878163;9472046;9788432;9819391;11278465;14657239;15886098;16713569;17474147;10748058;9069267;16284401;7806500;19351132;19004829;19001122;18725541;18660489;18602365;18165234;17848169;17825249;17764157;17428306;17399949;17308335;17081983;16849525;16628223;16440329;16413489;16344560;16339550;16275761;16189514;16158059;15831672;15700267;15592455;15522217;15345747;15326184;15263018;15062102;15051508;12970743;22012249;2173144;20088952;10595738;16289966;8524328;8683103;9295052;9416834;9988765;16267043;15834156;19522292;19737974;19760510;19807924;20237902;7537265;7926767;8978305;20729917;21339045;22974441;21319228;14702039;21602891;22321011;10747099;10962563;11418612;12393469;17038317;21044950;22383989;8626404;8943292;9129019;15673687;21139048;22144090;22464172;7531694;8626543;8647432;9233773;22848689;22939629;16273093;19447967;21988832;22412018;23275563;22569336;11278916;11839772;18835194;19380743;21664574;9617486 1398 I3L297;L7RT18;P46108 ABBA01054662;ABBA01054663;ABBA01054664;AC032044;AC100748;AK095449;AK291060;AMYH01007997;AU125411;BC001718;BC008506;BC009837;BT007277;CH471108;D10656;EU332838;JX512441;NG_029008;NM_005206;NM_016823;S65701 AAB28213;AAH01718;AAH08506;AAH09837;AAP35941;ABM82073;ABM85253;ABY87527;AGC09588;BAA01505;BAF83749;EAW90621;EAW90622;EAW90623;EAW90624;EAW90625;EAW90626;NP_005197;NP_058431;P46108 Hs.461896 2130096;2142834;2190837;5022200 CRK;L18426;RH17363;WIAF-1540 CRKII;FLJ38130;p38 OTTHUMP00000115366;OTTHUMP00000198330;adapter molecule crk;p38;proto-oncogene c-Crk;v-crk avian sarcoma virus CT10 oncogene homolog APPROVED protein-coding ENSG00000167193 2362 01267 164762 REVIEWED 1315322 CRISP2 cysteine-rich secretory protein 2 6 6 6 p12.3 51216185 51237390 - 49768031 49789233 - 49660071 49681303 - 1580863;6480464 8665901;18550510;16759931;15734896;15489334;14574404;12477932;8125298;2613236;20625511;17207965;21485539;23027975;15342556;16344560 7180 A8K8M0;P16562;Q5U8Z9 ABBA01050586;ABBA01050587;AK223337;AK292385;AL121950;AMYH01016340;AY289796;AY292862;AY292863;AY773479;BC022011;BC107707;BG718726;BI562149;BI831679;BM552843;BP369378;BP369727;CH471081;DB082240;DB445739;DB459032;DB524518;M25532;NM_001142407;NM_001142408;NM_001142417;NM_001142435;NM_001261822;NM_003296;X95239 AAA61220;AAH22011;AAI07708;AAP41200;AAP44113;AAP44114;AAV48552;ADQ31643;BAD97057;BAF85074;CAA64526;EAX04340;EAX04341;EAX04342;EAX04343;EAX04344;EAX04345;EAX04346;EAX04347;NP_001135879;NP_001135880;NP_001135889;NP_001135907;NP_001248751;NP_003287;P16562 Hs.2042 1847550;2107957 CRISP2_8686;D6S1839 CRISP-2;CT36;GAPDL5;MGC111136;TPX1;TSP1 OTTHUMP00000016589;cancer/testis antigen 36;cysteine-rich secretory protein 2;glyceraldehyde-3-phosphate dehydrogenase-like 5;testis specific protein 1 (probe H4-1 p3-1);testis-specific protein TPX-1 protein-coding ENSG00000124490 12024 01758 187430 VALIDATED 1352132 CRLF2 cytokine receptor-like factor 2 The protein encoded by this gene is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] X;Y X;Y p22.3; Yp11.3 1274894 1291529 - 1314869 1331529 - 1580863;6480464;6907045 17513717;14702039;11891057;11474172;11418668;11237741;10872831;8125298;22168549;20663412;21169835;19641190;19838194;19907440;19965641;20018760;20096461;20109752;20128689;20236697;20466416;20483734;20139093;20378752;20847213;20807819;21106984;23091296;22441210;22484421;22915648;21978707;22368272;22150304;21457190;22297722;22382891;23145900;22851563 64109 D0E2W4;J3QKD1;Q4V300;Q5G7M1;Q9HC73 AB052639;ABBA01055747;ABBA01055748;ABBA01055749;ABBA01055750;ABBA01055751;ABBA01055752;ABBA01055753;ABBA01055754;AF142570;AF338733;AK026800;AK223303;AMYH01021985;AMYH01021986;AY775789;BX323853;BX908382;CH471074;CS390622;CS403716;GM829053;GN090297;GQ280263;HB441732;HD117897;HH762800;NM_001012288;NM_022148 AAG27923;AAI60055;AAK60618;AAW66851;ACX31081;BAB15557;BAB60717;BAD97023;CAL40435;CAL44819;CAV28560;CAX87028;CAZ78684;CBX74362;CBX78819;EAW98672;NP_001012288;NP_071431;Q9HC73 Hs.287729 5015961 D15S1477 CRL2;CRLF2Y;TSLPR IL-XR;OTTHUMP00000070430;P2RY8/CRLF2 fusion;TSLP receptor;cytokine receptor CRL2 precusor;cytokine receptor-like 2;cytokine receptor-like factor 2;thymic stromal lymphopoietin protein receptor;thymic stromal lymphopoietin receptor;thymic stromal-derived lymphopoietin receptor APPROVED protein-coding ENSG00000205755 14281 02288 300357;400023 PROVISIONAL 1605611 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 16 16 q24.1 83411113 83500615 + 84853587 84943116 + 6480464 11256614;18391951;17616516;16381901;16344560;15489336;15489334;14702039;12975309;12477932;11230166;11076863;21254358;19864597;19937600;19913121;20628086;20662919;20815724;21244519;21800413 83716 H3BS62;H3BSZ9;H3BTI0;H3BTP0;J3QKP2;Q9H0B8 ABBA01016897;ABBA01016898;ABBA01016899;AC025280;AK027395;AK056839;AK303887;AK308396;AL136861;AMYH01007872;AY358790;BC007689;BC018643;BC063012;BQ010162;BQ015624;CH471114;CS000922;DA325436;DB095807;DB260709;NM_031476 AAH07689;AAH63012;AAQ89150;BAB55081;BAG64823;CAB66795;CAI48002;CAL38015;EAW95468;EAW95469;NP_113664;Q9H0B8 Hs.513779;Hs.617091 1336936;1721837;1738571;1749187;1750533;1783324;1848928;2114285;2177046;5094394 A005R20;D16S2735;D16S3061;G54652;G59943;SHGC-110872;SHGC-111376;SHGC-111836;SHGC-33289;SHGC-60748 CRISP11;DKFZp434B044;LCRISP2;MGC74865 CRISP-11;LCCL domain containing cysteine-rich secretory protein 2;LCCL domain-containing cysteine-rich secretory protein 2;OTTHUMP00000174996;cysteine-rich secretory protein 11;cysteine-rich secretory protein LCCL domain-containing 2 protein-coding ENSG00000103196 25248 13186 612434 VALIDATED 1318357 CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009] 22 22 q11.21 19601714 19637890 + 21271714 21308037 + 1580863;1642762;6480464;6484113;6907045 14685170 11389015;11334882;11313252;11279207;11167825;11097834;11071635;10945997;10763825;10753869;10753828;10720694;10648385;10608804;10477741;10092207;10022120;9891069;9872990;9858471;9845531;9837784;9820532;9660791;9614078;9590251;9546424;9498705;9461587;9405482;9374471;9344843;9178909;9162067;9092574;9067577;9053848;9020138;8943292;8621483;7493940;8978305;7926767;8810278;11133830;10907644;10204582;15143164;10194128;9747873;10419455;15696170;8798523;9788432;16284401;8361759;18029348;19307307;19004829;18809728;18403635;18165234;18059481;17764157;17161365;16955467;16305332;16289966;15592455;15522217;15489334;15461802;15345747;15167895;15062102;12697763;12665586;12522101;12504004;12477932;12446789;12393632;12244174;11489945;11466412;11466354;11463817;11443118;18654987;10657627;11263968;16135792;22591714;8524328;9988765;19913121;20628086;10871282;19168626;19454690;19615732;19966867;15107835;21319228;8626543;22233112;12671687;22974441;15717329;21628423;21896986;21700719;21139048;21890473;16273093;21988832;22412018;8662998;22244889;11418612;16503409;19322201;19823681;7545163;9129019;9311917;9851874;22253690;11157475;11399323;15556646;9195915;9657743;9710592;22569336;14604282;15358160;18271526;18835194;19380743;22169288;22586683 1399 P46109 AA844269;ABBA01015435;ABBA01015436;ABBA01015437;ABBA01015438;AC002470;AK000311;AK292909;AL049941;AMYH01012538;BC026248;BC033281;BC043500;BC044621;BC053958;CH471176;CR456423;NG_016354;NM_005207;X59656 AAH43500;BAF85598;CAA42199;CAG30309;CAK54415;CAK54714;EAX02932;EAX02933;EAX02934;NP_005198;P46109 Hs.5613 1665430;1683639;1683827;1685756;1858220;1858222;2155420;2173984;5037552;5115524 A004M48;D22S1018E;D22S1020E;D22S1687;D8S2279;GDB:452608;RH27792;RH46189;RH77782;STS-X59656 OTTHUMP00000198538;OTTHUMP00000198539;crk-like protein APPROVED protein-coding ENSG00000099942 2363 03596 602007 REVIEWED 4107742 CRNDE colorectal neoplasia differentially expressed (non-protein coding) 16 16 16 q12.2 39467460 39477829 - 53510277 53516628 - 54952775 54963101 - 11181995;8889548;23226159;22393467 643911 ABBA01066516;ABBA01066517;AC106738;AC108084;AF275804;AMYH01007679;AMYH01007680;BF692451;BM974647;BU180741;CH471092;DB455235;FJ466685;FJ466686;NR_034105;NR_034106 ACJ76642;EAW82818 Hs.237396 5019130 RH102242 LINC00180;NCRNA00180 miscrna 37078 VALIDATED 1322794 CRLF1 cytokine receptor-like factor 1 This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009] 19 19 19 p12 18606237 18619858 - 18565047 18578660 - 18704035 18717660 - 1600970;1580863;6480464;7240710 12509788 15340161;15034937;9686600;17436252;17436251;15489334;12975309;12477932;10966616;22429962;19921088;21326283;18029348;21370513;22632162 9244 M0QZL6;O75462 ABBA01051272;ABBA01051273;ABBA01051274;ABBA01051275;ABBA01051276;ABBA01051277;AC003112;AF059293;AF073515;AF178684;AMYH01009595;AMYH01009596;AY358291;BC044634;CH471106;NG_013370;NM_004750 AAC28335;AAD39681;AAD54385;AAH44634;AAQ88658;ACE86925;ACE87612;EAW84725;NP_004741;O75462 Hs.114948 1665235;2121845;2140663;2217192 A002Y03;CRLF1_2978;D19S650E;STS-R40163 CISS;CISS1;CLF;CLF-1;NR6;zcytor5 class I cytokine receptor;cytokine receptor-like factor 1;cytokine type 1 receptor CRLP-1;cytokine-like factor 1 APPROVED protein-coding ENSG00000006016 2364 09177 272430;604237 REVIEWED 1641966 CROCCP1 ciliary rootlet coiled-coil, rootletin pseudogene 1 X X X q26.3 134950553 134956790 + 134394335 134400303 + 134566600 134572837 + 392547 ABBA01050069;ABBA01050070;AL450472;AMYH01023015;NG_009690 CROCCP APPROVED pseudo 33602 INFERRED 1342810 CRLF3 cytokine receptor-like factor 3 This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012] 17 17 17 q11.2 26031854 26073912 - 26133828 26175904 - 29109702 29151778 - 6480464 18029348;19291764;18391951;17632510;12665801;12477932;11468690;12696059;16331330;16865251;19322201;228748;22874834;17207965;20628624;20546612;19427400 51379 B4DJU5;J3KST8;J3QLS9;Q8IUI8 AA993312;ABBA01014986;ABBA01014987;ABBA01014988;AC127024;AF046059;AF120151;AK296238;AK313315;AMYH01008316;BC023567;BU902521;CH471147;DQ298450;NG_032911;NM_015986;NR_073118 AAD02422;AAD31758;AAH23567;ABC55264;ABM83202;ADQ32200;BAG36120;BAG58957;EAW80297;NP_057070;Q8IUI8 Hs.649372 1647050;1665468;1682880;1795624;1857071;2187373;5037552;5093522 A009Q11;CRLF3_557;D8S2279;G32767;RH79956;SHGC-37343;SHGC-64286;STS-N67026 CREME-9;CREME9;CRLM9;CYTOR4;FRWS;MGC20661;p48.2 CREME-9;cytokine receptor related protein 4;cytokine receptor-like factor 3;cytokine receptor-like molecule 9;cytokine receptor-related protein 4;type I cytokine receptor like factor;type I cytokine receptor-like factor p48 APPROVED protein-coding ENSG00000176390 17177 16757 614853 REVIEWED 1322279 CRLS1 cardiolipin synthase 1 20 20 p13-p12.3 5934879 5966039 + 5986739 6020699 + 6480464;6907045 19089657;19089659;22584571;16547353;16341674;15342556;12771218;12477932;11780052;19052923;19048416;19048414;16888643;16716149;16678169;20877624;20652826;21890473 54675 Q6NTG3;Q9UJA2 ABBA01053897;AF241784;AK310368;AL035461;AL832419;AMYH01011696;BC069010;BM763234;BP368984;CH471133;DQ386730;NM_001127458;NM_019095 AAG44472;AAH69010;ABD46888;CAH10649;EAX10399;EAX10400;EAX10401;EAX10402;NP_001120930;NP_061968;Q9UJA2 Hs.743956 1655684;1658076;1663775;1671732;1730365;2161171 D20S1018;D20S121E;D20S595E;RH18242;SGC30258;STS-T96330 C20orf155;CLS;CLS1;GCD10;dJ967N21.6 OTTHUMP00000030219;cardiolipin synthase protein-coding ENSG00000088766 16148 12187 608188 VALIDATED 6482608 CROCCP4 ciliary rootlet coiled-coil, rootletin pseudogene 4 1 17076722 17077459 + 100421113 AL021920;AMYH01000282;NG_027067 pseudo 43864 INFERRED 6482607 CROCCP5 ciliary rootlet coiled-coil, rootletin pseudogene 5 1 21760804 21763314 + 100421114 ABBA01059814;AL592309;AMYH01000334;NG_027071 pseudo 43865 INFERRED 1323410 CRNN cornulin This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009] 1 1 q21 150648343 150653352 - 152381719 152386750 - 6480464 11056050;2631556;11606197;14967811;2980212;19133922;18465210;17925851;16344560;15854041;12477932;20412117;19558548;23568457;21555454;22560086 49860 B4DQ53;Q9UBG3 ABBA01049416;AF077831;AF185276;AK291301;AK298640;AK316568;AL135842;AMYH01001398;BC030807;CH471121;DA420219;NM_016190 AAD55747;AAF00514;AAH30807;BAF83990;BAG38157;BAG60815;EAW53381;NP_057274;Q9UBG3 Hs.242057 C1orf10;DRC1;PDRC1;SEP53 53 kDa putative calcium-binding protein;53 kDa squamous epithelial-induced stress protein;58 kDa heat shock protein;OTTHUMP00000014323;cornulin;squamous epithelial heat shock protein 53;tumor-related protein APPROVED protein-coding ENSG00000143536 1230 12720 611312 REVIEWED 1641962 CROCCP3 ciliary rootlet coiled-coil, rootletin pseudogene 3 1 1 1 p36.13 15273873 15299141 - 16658374 16698726 - 16793931 16819196 - 6480464 12477932;11572484 114819 Q8IVE0 AB067509;ABBA01004666;ABBA01004667;ABBA01004668;AL137802;AMYH01000281;BC033082;CH471167;NR_023386 BAB67815;EAW51787 Hs.597881 1644073;1678837;2123873;2130999;2180214;5124652 A004P30;AL009794;D1S3581;RH69268;RH69968;SHGC-74276 CROCCL2;KIAA0445;KIAA1922;dJ798A10.2 APPROVED pseudo ENSG00000080947 29405 VALIDATED 2303468 CROCCP2 ciliary rootlet coiled-coil, rootletin pseudogene 2 1 1 p36.13 16828752 16843794 - 16944751 16957401 - 6480464 14702039;12477932 84809 Q86T23 AA584096;AK054737;AK090414;AK123337;AK128484;AL137798;AMYH01000282;BC006312;BC010508;BC015342;BC047736;BC051002;NR_026752 BAC03395;BAC85584;BAG54684 Hs.631865;Hs.733729 2165225;5015619;5015961;5016478;5021872;5022450;5022578;5024761;5037552;5113124;5113587;5117897 D10S275;D11S3114;D15S1477;D1S1423;D8S2279;GDB:434012;GDB:631813;RH25727;RH36905;RH64845;SHGC-31788;sY3084 CROCCL1;MGC12760 APPROVED pseudo ENSG00000215908 28170 VALIDATED 1352950 CRPP1 C-reactive protein pseudogene 1 1 1 1 q23.2 132743106 132744130 - 157941284 157942308 - 159674740 159675386 - 3034876;21647738;22492993 171422 ABBA01016618;AF442818;AL445528;AMYH01001446;M16109;NG_001016 pseudo 2368 INFERRED 1347855 CRS craniosynostosis 7240710 1403 2369 123100 1347619 CRSP5 cofactor required for Sp1 transcriptional activation, subunit 5, 85kDa 10688 2374 733946 CRNKL1 crooked neck pre-mRNA splicing factor-like 1 (Drosophila) The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013] 20 20 20 p11.2 20089029 20110711 - 19963012 19984690 - 20015012 20036690 - 1580863;6480464;6907045 12084575;11991638;17296875;14759258;14702039;11780052;11342225;12477932;15189447;22939629;16344560;22365833;23000965;23084401;20360068;21900206;21139048;16396496;22586326 51340 Q5JY65;Q9H8F8 AA255987;AB016840;ABBA01054080;AF111802;AF255443;AF318302;AF318303;AF318304;AF318305;AK022908;AK023246;AK023728;AK026342;AK292799;AL035454;AL832435;AMYH01011760;BC144222;BI550198;CH471133;DB040881;NM_001278625;NM_001278626;NM_001278627;NM_001278628;NM_016652 AAF65571;AAI56790;AAK01924;AAK01925;AAK01926;AAK01927;AAL39004;BAB14303;BAB14485;BAB14659;BAC53587;BAF85488;CAH10656;EAX10206;EAX10207;EAX10208;EAX10209;EAX10210;EAX10211;EAX10212;NP_001265554;NP_001265555;NP_001265556;NP_001265557;NP_057736;Q9BZJ0 Hs.171342 1341348;1660190;2116686;2145702;2165908;5491300;7184425 AU022874;D13S156;D13S158;D20S578E;RH48424;RH66095;SHGC-36866 CLF;CRN;Clf1;HCRN;MSTP021;SYF3 Crn, crooked neck-like 1;OTTHUMP00000030376;OTTHUMP00000063214;OTTHUMP00000226341;crooked neck homolog;crooked neck protein;crooked neck-like 1;crooked neck-like protein 1 APPROVED protein-coding ENSG00000101343 15762 09898 610952 REVIEWED 1313346 CROCC ciliary rootlet coiled-coil, rootletin 1 1 1 p36.13 15570790 15621812 + 17121032 17172061 + 17248445 17299474 + 6480464 18086858;16203858;17971504;16767081;16710414;14654843;12800201;12477932;12427867;9455484;18029348;23070519;22863883;22036096;21988832;23455922;23752268 9696 B1AKD8;Q5TZA2 AB007914;ABBA01000257;ABBA01000258;ABBA01000259;ABBA01000260;ABBA01000261;AF527734;AK026910;AL049569;AL834169;AMYH01000294;BC126911;BC126912;BK005505;BX284668;CH471134;DQ139275;NM_014675 AAI26912;AAI26913;AAP85633;ABA43896;BAA32290;DAA05505;EAW94814;EAW94815;EAW94816;EAW94817;NP_055490;Q5TZA2 Hs.309403 1729736;1733124;2165225;5015961;5017433;5022578;5037552;5113124;5113587 D15S1477;D1S1423;D1S1443;D1S170;D8S2279;RH25727;RH64845;SHGC-31788;STS-T76997 KIAA0445;ROLT OTTHUMP00000002222;OTTHUMP00000002223;Tax1-binding protein 2;ciliary rootlet coiled-coil protein;rootletin;rootletin, ciliary rootlet protein protein-coding ENSG00000058453 21299 16758 VALIDATED 1351263 CRSP4 cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa 10689 2373 731741 CRMP1 collapsin response mediator protein 1 This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 4 4 p16.1 5873392 5945686 - 5822491 5894785 - 1580863;6480464 8973361;15383276;16169070;19492085;19409380;18782567;18524846;17118363;16611631;15492864;15489334;15345747;14996858;14702039;12650609;12482610;12477932;11562390;10048489;19019082;19362386;19903856;20087401;20379614;20506281;20467441;22863883;12134159;21747164;18029348;21078624;21139048;21900206;22363707;22798627 1400 B3KT07;E9PD68;Q14194;Q96I11 ABBA01008265;ABBA01008266;ABBA01008267;AC105915;AK091696;AK094725;AK122754;AK127754;AK309379;AMYH01013908;AMYH01013909;AMYH01013910;BC000252;BC007613;BC007898;BC009987;BG701124;BT006806;CH471131;D78012;DQ206871;FB582071;FB582073;FB723030;FB723032;NM_001014809;NM_001313;U17278 AAA93201;AAH00252;AAH07613;AAH07898;AAP35452;AAY40959;ABB22046;ABM83454;ABM86666;BAA11190;BAG52919;BAG53708;BAG54567;CAR95648;CAR95649;CAT03387;CAT03388;EAW82403;EAW82404;EAW82405;EAW82406;EAW82407;NP_001014809;NP_001304;Q14194 Hs.135270 1652875;1663580;1663582;1673209;1761177;1768227;2107959;2117286;2142858;2149642;2161321 CRMP1_8275;Cda0ad03;D4S3099;RH47291;SHGC-145187;SHGC-59173;SHGC-59627;SHGC-67720;SHGC-67752;STS-R50561;WI-15614 CRMP-1;DPYSL1;DRP-1;DRP1;ULIP-3 OTTHUMP00000155142;OTTHUMP00000217352;OTTHUMP00000217353;dihydropyrimidinase related protein-1;dihydropyrimidinase-like 1;dihydropyrimidinase-related protein 1;unc-33-like phosphoprotein 3 APPROVED protein-coding ENSG00000072832 2365 03913 602462 REVIEWED 732197 CROT carnitine O-octanoyltransferase This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009] 7 7 7 q21.1 81679821 81733990 + 86812947 86867045 + 86974951 87029112 + 1580863;1300048;1599987;6480464 14618266 10486279;19054068;16344560;15489334;12690205;12477932;11790793;11001805;9110174;8889549;8619474;20379614;16756494;20877624;20178365;21619872;22939629;18029348 54677 C9J3D7;Q9UKG9 AA062685;AACC02000015;ABBA01045868;ABBA01045869;AC005045;AF052187;AF073770;AF168793;AK127901;AK300114;AK313487;AMYH01017669;BC006015;BC012483;BC019226;BC039004;BC051874;CH236949;CH471091;DA518578;DA865171;NM_001143935;NM_001243745;NM_021151 AAD41654;AAF03234;AAH39004;AAH51874;BAG61909;EAL24177;EAW76954;NP_001137407;NP_001230674;NP_066974;Q9UKG9 Hs.125039 1653035;2125339;2128375;2132971;2178634;2217194 A004N35;CROT_3598;D7S1646;D8S2089;RH36091;SHGC-17232 COT OTTHUMP00000161500;OTTHUMP00000205461;OTTHUMP00000205463;peroxisomal carnitine O-octanoyltransferase;peroxisomal carnitine acyltransferase;peroxisomal carnitine octanoyltransferase APPROVED protein-coding ENSG00000005469 2366 12081 606090 REVIEWED 1606263 CRTAM cytotoxic and regulatory T cell molecule The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009] 11 11 11 q24.1 119868568 119902622 + 122214465 122248557 + 122709255 122743347 + 6480464 15811952;18329370;16300832;15781451;12477932;10811014;19695707;17207965;20556794;23530148;22051697 56253 O95727 AB209830;ABBA01031278;AF001622;AK293470;AK313578;AMYH01004094;AMYH01004095;AP004318;BC070266;BX118379;CA309993;CH471065;CK004240;JA738785;NM_019604 AAC80267;AAH70266;ADQ32073;BAD93067;BAG36349;BAG56963;CCF77045;EAW67532;NP_062550;O95727 Hs.159523 1674981;1848754;2218440 CRTAM_4640;D11S4402;L77857 CD355 OTTHUMP00000231739;class I MHC restricted T cell associated molecule;class-I MHC-restricted T cell associated molecule;class-I MHC-restricted T-cell-associated molecule;cytotoxic and regulatory T-cell molecule APPROVED protein-coding ENSG00000109943 24313 16760 612597 VALIDATED 1345664 CRTL2 cartilage linking protein 2 1405 2381 1603540 CRTC2 CREB regulated transcription coactivator 2 This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010] 1 1 q21.3 152186775 152197667 - 153920148 153931132 - 6480464 16306228;19164291;18626018;17950019;17548807;17476304;17043309;16980408;16809310;15454081;15324660;14702039;14536081;14506290;12477932;8125298;17353931;17805301;19509226;20101207;22173835;20675384;18029348;19369332;19372545;19564345;20300828;20504934;20541704;20693566;20864035;19279000;20501647;21145500;21170086;21326806;21415389;21321111;21339740;21757730;22084251;23671120;19850743;21890473;22045983;22053105;21804606;22504275;22473959;22457328;22457331;23362262;23444366;23459592;22145100;22462548;23213254 200186 H0YDQ8;J3KNE6;Q53ET0;Q5T4K5 ABBA01049459;AF289574;AK096382;AK223559;AL358472;AMYH01001409;AY360172;AY726597;BC028886;BC033304;BC053562;BI550818;BM987537;NM_181715 AAH28886;AAH53562;AAL55758;AAQ98857;BAD97279;BAG53277;NP_859066;Q53ET0 Hs.406392 1643712;1670311;1678815;1683243;1849705;1856332;2180479 D1S1830E;G19748;RH10553;RH12271;RH16039;RH186;RH64708 RP11-422P24.6;TORC-2;TORC2 CREB-regulated transcription coactivator 2;OTTHUMP00000035255;OTTHUMP00000235093;TORC-2;transducer of CREB protein 2;transducer of regulated cAMP response element-binding protein (CREB) 2;transducer of regulated cAMP response element-binding protein 2 APPROVED protein-coding ENSG00000160741 27301 12347 608972 REVIEWED 736633 CRP C-reactive protein, pentraxin-related The protein encoded by this gene belongs to the pentaxin family. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. [provided by RefSeq, Sep 2009] 1 1 q23.2 157948703 157951003 - 159682079 159684379 - 1580259;1580260;1580273;1580863;2313344;5131460;5131283;5131285;5131287;5131291;5131464;5131284;5131277;5131279;5128547;5131456;5131463;5131278;5131292;5131457;5131461;5131289;5131288;5131290;5131293;5131282;5490970;6480464;6482303;6482313;6482305;6482307;6482310;6482316;6903321;6482309;6903282;6482304;6482301;6482312;6482317;6482311;6903278;6484113;6482308;6482315;6482318;6906966;6906967;6904209;6907405;6909145;6906887;6906888;6907431;6907432;6909147;6906884;6909144;6904208;6904211;6907433;6907398;6907400;6907401;6909142;6909146;6906886;6906965;6904212;6907422;6909166;6907402;6907435;6907441 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1401 C9JRE9;P02741;Q5VVP7 ABBA01016618;AF442818;AF449713;AI609949;AK289443;AK313624;AL445528;AMYH01001446;BC020766;BC070257;BC125135;BG533281;BG618967;CH471121;JA514417;K00518;M11725;M11880;M35163;NG_013007;NM_000567;X56214;X56692 AAA52074;AAA52075;AAA52076;AAB59526;AAH20766;AAH70257;AAI25136;AAL40835;AAL48218;BAF82132;CAA39671;CAA40020;CCD62032;EAW52777;EAW52778;EAW52779;EAW52780;NP_000558;P02741 Hs.709456;Hs.76452 1645077;1655196;1712260;1794416;1795104;1795106;1795626;2148463;2148563;2150224;2151737;2161733 CRP_559;D1S2384;D1S3335;G54038;GDB:190880;PMC311069P8;PMC98081P1;PMC98081P3;RH11065;RH11610;RH18109;WIAF-2117 MGC149895;MGC88244;PTX1 C-reactive protein;OTTHUMP00000033307;c-reactive protein, petaxin related;pentraxin 1 2314798;2314801;2315765;2315816;2316338 GLUCO117_H;GLUCO120_H;GLUCO149_H;GLUCO177_H;GLUCO223_H APPROVED protein-coding ENSG00000132693 2367 00422 123260 REVIEWED 737274 CRTAC1 cartilage acidic protein 1 This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 10 10 q22 99614748 99780575 - 99624757 99790585 - 6480464 17602227;17074475;15489334;14702039;12477932;11139377;20694148;16385451;20379614;8889548;12054597;17013738;17460260;19738042;19952464;20171266;20382749;20803292 55118 H0Y6C6;Q5T4F6;Q9NQ79 AA485276;ABBA01021782;ABBA01021783;ABBA01021784;ABBA01021785;ABBA01021786;AJ276171;AJ279016;AJ421515;AK001182;AK057190;AK292084;AL139239;AL358938;AMYH01002980;AMYH01002981;BC034245;BG820409;BU687942;CH471066;NG_029831;NM_001206528;NM_018058;R60584 AAH34245;BAA91540;BAF84773;CAB98267;CAB98268;CAB98269;CAC08451;CAD13394;EAW49890;EAW49891;EAW49892;NP_001193457;NP_060528;Q9NQ79 Hs.500736 1646156;1706040;1706056;1736080;1736130;2109195;5127451 CRTAC1_9876;D10S1353E;D10S1393E;D10S2197;SHGC-32394;SHGC-78664;SHGC-80063 ASPIC;ASPIC1;CEP-68;FLJ10320 68 kDa chondrocyte-expressed protein;ASPIC;OTTHUMP00000020233;OTTHUMP00000020234;OTTHUMP00000020235;acidic secreted protein in cartilage;cartilage acidic protein 1;chondrocyte expressed protein 68 kDa CEP-68;w307 protein APPROVED protein-coding ENSG00000095713 14882 10447 606276 REVIEWED 1320245 CRTAP cartilage associated protein The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008] 3 3 p22.3 33130483 33164269 + 33155450 33189265 + 1580863;6480464;7240710 19550437;19615732;19727905;19846465;19862557;18996919;18566967;17055431;16344560;15489334;14702039;12477932;10702664;10429950;9217321;19895918;20425614;22863883;20360068;21942715;21987572;21963094;21890473;21906983;22268729;22505724 10491 C9JP16;O75718 ABBA01024911;AC112211;AC123900;AJ006470;AK001634;AK027235;AK075401;AK091772;AK092990;AK097650;AK126433;AK298250;AK314719;AL110145;AMYH01013067;BC008745;BC073904;BC094866;BX648233;CH471055;DA335701;NG_008122;NM_006371 AAH08745;ABM84147;ABM87549;BAC03743;BAG37263;BAG50954;BAG52129;BAG52633;BAG53502;BAG54328;BAG60515;CAA07054;EAW64448;EAW64449;EAW64450;NP_006362;O75718 Hs.517888 1645948;1673612;1684252;2115529;2148554;2171101;2176922;5016596 G16533;GDB:631802;RH41985;RH47267;RH68922;RH77950;RH91347;SHGC-33264 CASP;LEPREL3;OI7 OTTHUMP00000161311;OTTHUMP00000208757;cartilage-associated protein;leprecan-like 3 APPROVED protein-coding 2379 16110 605497;610682 REVIEWED 1604314 CRTC3 CREB regulated transcription coactivator 3 This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 15 15 15 q26.1 67477941 67594096 + 88874202 88989581 + 91073118 91188577 + 6480464 18050304;17644518;16980408;15466468;15324660;14536081;14506290;12477932;8125298;15146197;15342556;16344560;19749740;20379614;21130836;20936779;21164481;22863883;21536665;21668476;18029348;19471022;23128233 64784 H0YK33;H0YK64;Q6UUV7;Q8TEF4 ABBA01053058;ABBA01053059;ABBA01053060;ABBA01053061;ABBA01053062;ABBA01053063;ABBA01053064;AC021422;AC103739;AI969212;AK025521;AK074170;AK090443;AK225300;AL360259;AMYH01006921;AY360173;BC019060;BC074730;BC074731;BP238198;BP365179;BQ945777;CN298837;DB288138;HY057135;HY109267;HY180993;NM_001042574;NM_022769 AAH74730;AAH74731;AAQ98858;BAB15160;BAB84996;BAC03424;NP_001036039;NP_073606;Q6UUV7 Hs.567572 1688718;1740615;1740625;1794354;2113048;2131093;2134896 D15S1153;D15S1159;D15S1476E;PMC311040P16;RH91249;SHGC-32525;SHGC-37377 FLJ21868;TORC-3;TORC3 CREB-regulated transcription coactivator 3;TORC-3;transducer of CREB protein 3;transducer of regulated CREB protein 3;transducer of regulated cAMP response element-binding protein (CREB) 3;transducer of regulated cAMP response element-binding protein 3 APPROVED protein-coding ENSG00000140577 26148 13384 608986 REVIEWED 1320323 CRTC1 CREB regulated transcription coactivator 1 19 19 p13.11 18655425 18754143 + 18794425 18893143 + 6480464 14536081;14506290;19531414;19269006;19164581;18784253;18717645;18206539;18181164;17565599;17437281;17334997;16980408;16818685;16817901;16809310;16652146;16344560;15729701;15589160;15489334;15324660;15057824;14720503;14702039;12539049;12477932;9734811;8889548;15454081;22627671;19913121;20628086;18029348;20936779;20588178;20625861;19438452;19521953;20010869;21102462;21074686;23699513;21798997;21668476;17979178;20541704;22805177;23362262;21706049;21890473;22236576;22457329;22749528;23074285 23373 M0QX46;M0QXN6;Q8N6W3 AB014516;ABBA01051288;ABBA01051289;ABBA01051290;AC003107;AC004400;AC004476;AC006123;AK024089;AMYH01009599;AMYH01009600;AMYH01009601;AU118537;AY040323;AY186998;AY360171;BC017075;BC023614;BC028050;BM680095;CH471106;DB355148;NM_001098482;NM_015321 AAC97072;AAH17075;AAH23614;AAH28050;AAK93832;AAP12463;AAQ98856;ABM84236;ABM85154;BAA31591;BAB14822;EAW84730;EAW84731;EAW84732;EAW84733;NP_001091952;NP_056136;Q6UUV9 Hs.371096 1699604;1769344;1783852;2147360;5095020 A001X32;CRTC1;NIB504;RH103403;SHGC-79410 FLJ14027;KIAA0616;MECT1;TORC-1;TORC1;WAMTP1 CREB-regulated transcription coactivator 1;TORC-1;mucoepidermoid carcinoma translocated 1;mucoepidermoid carcinoma translocated protein 1;transducer of CREB protein 1;transducer of regulated cAMP response element-binding protein (CREB) 1;transducer of regulated cAMP response element-binding protein 1 protein-coding ENSG00000105662 16062 06339 607536 VALIDATED 733182 CRX cone-rod homeobox The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.3 53016911 53038393 + 48325099 48346587 + 734827;1600973;1580863;6480464;7240710 9537410;16799048 9390563;18653602;17347810;17320181;17286855;16189514;15689355;15531334;15489334;15143176;15001570;12477932;12408971;12359607;12208271;11971869;11910559;11748859;11580893;11468275;10887186;10866677;10708567;10192380;9931337;9792858;9427255;8889548;8162077;9390516;20591486;12215455;15028672;19686387;19753312;19823680;19936203;20801516;15781457;15932940;22960069;21966431;22790857;22558175;20301590 1406 F5GXB4;H3BUU7;O43186 ABBA01041061;AC008745;AF024711;AF335246;AF335247;AF335249;AF335593;AF335594;AF335595;AF442496;AL711350;AMYH01009889;BC009045;BC016664;BC053672;BT007364;BU736672;CH471126;DQ340179;DQ426867;DQ426868;EF432655;NG_008605;NM_000554 AAB88418;AAH16664;AAH53672;AAP36028;ABC69290;ABD90533;ABM84490;ABM85165;ABO31091;EAW57515;NP_000545;O43186 Hs.617342;Hs.633434;Hs.639114 1337083;1711404;1768506;2107961;5014051;5015619;5037552;5096673;5117897 CRX_8276;D11S3114;D19S902;D8S2278;D8S2279;G27385;G42186;GDB:631813;RH78183 CORD2;CRD;LCA7;OTX3 OTTHUMP00000244137;OTTHUMP00000244138;OTTHUMP00000244139;cone-rod homeobox protein;orthodenticle homeobox 3 APPROVED protein-coding ENSG00000105392 2383 03748 120970;602225;613829 REVIEWED 1353919 CRY1 cryptochrome 1 (photolyase-like) This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Aug 2012] 12 12 q23-q24.1 105909272 106011455 - 107385142 107487635 - 1580863;6480464 19181792;18430226;18228528;18195715;17376600;16628007;16189514;15722957;15489334;14507900;12846824;12782655;12477932;11875063;11533252;10531061;10428031;8921389;8600518;17073458;9801304;8909283;10217146;20560679;19500131;19693801;19934327;20072116;20174623;20379614;20222832;17463251;20877624;20978934;23317246;23455922;23546644;14672706;20360068;15147242;15123698;17852344;21628572;21690409;22170608;22318606;22470559;22081238;22669941;12397359;21906983;21846818;22427812;22692217;21963094;21988832;23133559;23242607;23584858;22505724;9383998;22538398 1407 A2I2P0;H0YHT0;Q16526 ABBA01053160;AC007541;AC078929;AK098615;AK125915;AK290552;AMYH01004726;BC017466;BC030519;BJ993835;CH471054;D83702;D84657;DB454192;EF015898;NM_004075 AAH30519;ABM64209;ADZ15916;BAA12068;BAA12710;BAC05354;BAF83241;EAW97795;EAW97796;EAW97797;NP_004066;Q16526 Hs.151573 1678793;1682569;1712384;1795628 CRY1_1267;G54218;RH79737;RH93858 PHLL1 OTTHUMP00000242601;cryptochrome-1;photolyase-like cryptochrome 1 APPROVED protein-coding ENSG00000008405 2384 09050 601933 REVIEWED 735272 CRYAA crystallin, alpha A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jul 2008] 21 21 q22.3 43462210 43465982 + 44589141 44592913 + 1600984;1600993;1600994;1580863;2303613;6480464;6907045;7240710 1424724;1707863;18626730 18521724;18477484;18344542;18343237;18302245;18199971;18095658;18056999;18004741;17973972;17937925;17909943;17900621;17724170;17662998;17296897;17258947;17149363;16760894;16751613;16735993;16584192;16531622;16453125;16012168;15817465;15701626;15489334;15388868;15382236;15284238;15004872;14532291;12501218;12477932;12369832;12095619;12060738;11756414;11700327;11672428;11377425;22169612;18407550;8943244;14752512;16303126;9467006;14512969;18587492;19595763;19390652;19071118;19020808;18949065;18779867;18754677;18700785;18692065;18639655;11123904;11024455;11006246;10930324;10830953;10217480;9655350;9618718;9543632;9346914;8999933;8910261;8759518;8587135;8175657;7835394;3758227;3610158;2918909;1730617;1525182;817940;22655036;19464326;20606865;15322286;17724207;19401464;19463898;19503744;19558454;19651604;19862354;20079887;17207965;20434541;20465443;21092858;20813964;21245144;21364639;21061147;21552534;21300147;21612679;21686328;22085609;21866213;21617844;22140512;22970163;23288997;22210387;22272318;22120592;22045060;22359280;22065922;22052021;22347398;22347476;22216983;16142923;22889833;23188086;23508955;23410823;22982407;12601044;17260942;18401461;22427585 1409 AAB33370;E7EWH7;E9PHE4;P02489 ABBA01004512;ABBA01004513;AF026952;AMYH01012275;AP001631;AP001748;BC069528;BC113598;CH471079;CR407691;L25781;M35628;M35629;NG_009823;NM_000394;U05569;U66584;X14789 AAA52105;AAA52106;AAA97523;AAB33370;AAB99912;AAC37570;AAC50900;AAH69528;AAI13599;ADQ32914;ADR82821;BAA95535;CAA32891;CAG28619;EAX09497;EAX09498;NP_000385;P02489 Hs.184085 2218442 CRYAA_4641 CRYA1;CTRCT9;HSPB4 OTTHUMP00000109430;alpha-crystallin A chain;crystallin, alpha-1;heat shock protein beta-4;human alphaA-crystallin (CRYA1) APPROVED protein-coding ENSG00000160202 2388 00427 123580;604219 REVIEWED 737518 CRYAB crystallin, alpha B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. [provided by RefSeq, Jul 2008] 11 11 q22.3-q23.1 111284560 111287683 - 111779350 111782473 - 1580863;2303639;6480464;6907045;7240710 17293487 16893188;16877416;16817325;16764341;16760894;16751613;16581320;16505043;16483541;16480679;16395408;16381901;16368544;16274233;16225851;16142923;16053447;15952936;15817465;15653686;15639800;15511225;15489336;15489334;15388868;15382236;15339919;15308659;15284238;15236975;16303126;14752512;9731540;15609325;19461931;19451620;19282282;19272359;19238749;19140694;19116904;19041879;18992912;18977241;18974385;18941542;18810322;18712293;18692065;18685083;18669646;18639655;18604737;18543331;18401461;18343407;18343237;18334940;18230612;18164413;18162431;18095658;18063749;18061943;18005258;18004741;17968656;17940610;17916631;17909943;17723105;17693254;17662998;17655279;17601350;17590381;17568699;17487982;17387692;17260942;17258947;17105203;17081987;17075130;17056255;17046756;17022999;17010329;15188402;15168732;15117944;15004872;14743435;14681890;14676215;14610128;14532291;14523008;12965253;12940843;12837281;12646227;12601044;12600716;12501218;12477932;12468532;12140279;12095619;12060738;11926998;11771659;11700327;11577372;11377425;11369851;11341940;11256614;11158243;11076863;11024455;10995559;10930324;10751411;10508479;10217480;9110174;8999933;8639509;8619474;8431633;8175657;8142454;7498159;2591958;2539261;23188086;22655036;2387586;2294148;1560006;1525182;1407707;838078;10625651;20587334;21224997;19464326;12601813;21087083;20841355;20804537;20535031;19777343;20668689;20067552;20802487;17551579;19205872;19401464;19498098;19558454;19597569;19646995;19651604;19680556;19799611;20104255;20141356;20378664;20381070;18552382;20863832;21152271;21173272;21357544;21423869;21464278;22972503;20197038;23005341;23055712;21423662;22877753;20301672;23508955;23532854;21920752;16049941;21768101;21866213;22210387;22272318;21884203;21915251;21980040;22463677;23194663;21139048;22090033;22143763;23077034;19343786;22096479;21984182;19616115;12812987;22158051;22537749;22815750;23225306;23159935;23049853;23340341;21988832;23000965;23074197;23231769;22982407;15247152;21905118;21961594;22427585 1410 E9PJL7;E9PNH7;E9PR44;E9PRA8;E9PRS4;E9PS12;H0YCW8;P02511 ABBA01039811;AF007162;AK295498;AK314029;AMYH01004032;AP000907;BC007008;BT006770;CH471065;EF444955;FJ876064;M24906;M28638;NG_009824;NG_033080;NM_001885;S45630 AAA52104;AAA60267;AAB23453;AAC19161;AAH07008;AAP35416;ABM83443;ABM86655;ACA05949;ACP18852;BAG36739;BAG58418;CAL37427;CAL37905;EAW67162;EAW67163;EAW67164;EAW67165;EAW67166;EAW67167;NP_001876;P02511 Hs.53454 1737801;1742511;1774359;1791744;1851592;2127623;2144450 CRYA2;D11S2244E;D11S3407;GDB:197835;PMC123035P1;RH17897;SHGC-31520 CMD1II;CRYA2;CTPP2;CTRCT16;HSPB5;MFM2 OTTHUMP00000234278;OTTHUMP00000234282;OTTHUMP00000234283;OTTHUMP00000234284;OTTHUMP00000234287;OTTHUMP00000234289;alpha B crystallin;alpha crystallin B chain;alpha(B)-crystallin;alpha-crystallin B chain;heat shock protein beta-5;heat-shock 20 kD like-protein;renal carcinoma antigen NY-REN-27;rosenthal fiber component APPROVED protein-coding ENSG00000109846 2389 00428 123590;608810;613763;613869;615184 REVIEWED 1343426 CRYBA2 crystallin, beta A2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008] 2 2 2 q35 213624625 213627840 - 219563156 219566371 - 219854912 219858127 - 634551;1580863;6480464 7490092 18391951;16189514;15489334;12907171;12477932;6835373;20546612;19060904;23496965 1412 C9JDH2;P53672 ABBA01023853;AC097468;AF166331;AMYH01011500;BC006285;BF726935;BT007447;CH471063;NG_029384;NM_057093;NM_057094;X86395;X86396 AAD45388;AAH06285;AAP36115;AAX88918;CAA60147;CAA60148;EAW70665;EAW70666;EAW70667;NP_476434;NP_476435;P53672 Hs.415790 1655974;2191015 MARC_12911-12912:999888716:3;RH70935 OTTHUMP00000164102;OTTHUMP00000206333;OTTHUMP00000206334;beta-A2 crystallin;beta-crystallin A2;eye lens structural protein APPROVED protein-coding ENSG00000163499 2395 02905 600836 REVIEWED 732507 CRY2 cryptochrome 2 (photolyase-like) 11 11 p11.2 45825605 45861372 + 45868669 45904799 + 1580863;734990;6480464 10217146 15798197;19318546;18990770;18444243;18430226;18228528;17984998;17440215;16628007;16528748;15751956;15489334;14750904;14702039;14701732;14507900;12782655;12627958;12477932;10531061;10428031;9801304;9734811;9383998;8909283;17073458;9753616;19913121;20532202;20554694;20571754;20628086;17463251;19470168;19693801;19839995;19934327;20072116;20081858;20174623;20195522;20233903;20334671;20379614;20419449;20856823;20978934;21411511;21747906;22538398;21694704;15147242;18029348;14672706;20360068;22318606;22581228;22589738;12397359;21890473;21906983;23275563;23317246;23455922;23546644;22505724 1408 B4DZD6;Q49AN0 AB014558;ABBA01060758;AC068385;AK001194;AK291260;AK294904;AK295627;AK302865;AMYH01003530;BC035161;BC041814;BG260501;CH471064;DC306642;DC330290;EF015899;EU219622;NM_001127457;NM_021117 AAH35161;AAH41814;ABM64210;ACA14134;ADZ15591;BAA31633;BAF83949;BAG57993;BAG58504;BAG64048;EAW68029;EAW68030;NP_001120929;NP_066940;Q49AN0 Hs.532491 1657344;1852012;2119084;5021992 BCD2335;D10Chm27;D11S1127;RH12593 FLJ10332;HCRY2;KIAA0658;PHLL2 OTTHUMP00000203439;OTTHUMP00000203440;cryptochrome-2;growth-inhibiting protein 37 protein-coding ENSG00000121671 2385 07226 603732 VALIDATED 736650 CRYBA1 crystallin, beta A1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008] 17 17 q11.2 24598001 24605638 + 27573875 27581512 + 1601004;1601011;1580863;6480464;7240710 17102796;9158139 18587492;8999933;19190732;18949065;18823128;18567786;18401461;18162101;17653060;17616172;15576560;15489334;15111599;15016766;14598164;12477932;12060738;11424921;10585769;10525151;9788845;8961355;8889548;8623885;3770741;3745196;2055112;22032798;17207965;19401464;19548648;20142846;20300566;21139689;21139983;22665976;22919269;21686330;21850182 1411 J3QRT1;P05813 ABBA01015029;AC005412;AMYH01008287;BC069537;BC113693;BU735083;CH471159;M14301;M14302;M14303;M14306;NG_008037;NM_005208;U59058 AAA52107;AAC50971;AAH69537;AAI13694;ADQ32939;ADR82864;EAW51185;NP_005199;P05813 Hs.46275 1678121;1741381 GDB:180957;RH79897 CRYB1;CTRCT10 OTTHUMP00000163604;beta-crystallin A3;crystallin, beta A3;eye lens structural protein APPROVED protein-coding ENSG00000108255 2394 00429 123610;600881 REVIEWED 733543 CRYBA4 crystallin, beta A4 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008] 22 22 q12.1 25347928 25356636 + 27017928 27026636 + 1580863;2303653;6480464;7240710 10726880 16960806;8999933;15489334;15461802;12477932;12360425;12060738;10591208;8889548;8420967;7504514;1424806;960806;20577656;20057906;22792142 1413 P53673 ABBA01055203;AMYH01012684;BC069404;BC096171;BC096172;BC096173;BC096174;BF726612;BM667295;CH471095;CR456424;NG_009825;NM_001886;S67583;U59057;Z95115 AAC50970;AAD13994;AAH69404;AAH96171;AAH96172;AAH96173;AAH96174;CAG30310;CAK54416;CAK54715;EAW59731;NP_001877;P53673 Hs.57690 1686544;1711474;2107963;2132191 CRYBA4_8277;G49194;RH27794;STS-U59057 CTRCT23;MCOPCT4 OTTHUMP00000198864;beta-A4 crystallin;beta-crystallin A4;crystallin, beta polypeptide A4;eye lens structural protein APPROVED protein-coding ENSG00000196431 2396 00432 123631;610425 REVIEWED 731502 CRYBB1 crystallin, beta B1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008] 22 22 q12.1 25325362 25343991 - 26995362 27013991 - 728217;1580863;6480464;7240710 12360425 8626774;19190732;19071118;18432316;18162101;17531125;17460281;17448466;17327390;16331646;16110300;15667225;15489334;15461802;14978307;14573871;12941953;12506076;12477932;12060738;10591208;9702176;20889312;8575764;21447408;22032798;21402992;20565250;20616077;19461930;19463898;19548648;21044950;21972112;22267527;23159606 1414 P53674 ABBA01055203;AMYH01012684;BC036790;CH471095;CR456425;NG_009826;NM_001887;U35340;X86398;Z95115 AAC50383;AAH36790;CAA60150;CAG30311;CAK54417;CAK54716;EAW59730;NP_001878;P53674 Hs.37135 2133242 RH71225 CATCN3;CTRCT17 OTTHUMP00000198858;beta-B1 crystallin;beta-crystallin B1;eye lens structural protein APPROVED protein-coding ENSG00000100122 2397 09021 600929;611544 REVIEWED 1345141 CRYBB2P1 crystallin, beta B2 pseudogene 1 22 22 22 q11.2-q12.1 9648170 9661756 + 24173963 24187744 + 25844054 25857645 + 12477932;8812489;3436525;2055112;23092984 1416 ABBA01055175;AL008721;AMYH01012680;BC037884;BC047380;M18441;NR_033733;NR_033734 Hs.571835 1341696;1655226;1730744;1774990;5014027 D13S1621;D22S1035;D22S1557;D22S533;D22S557 CRYB2B;MGC51252 pseudo ENSG00000100058 2399 VALIDATED 734352 CRYBB2 crystallin, beta B2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008] 22 22 q11.23 23945612 23957836 + 25615612 25627836 + 734832;1601011;1580863;6480464;7240710 11424921;9158139 19321936;19190732;18449377;18162101;17937660;17653036;17234267;16519509;16319073;16179907;15489334;15461802;15452067;12535638;12477932;12457849;12060738;11700327;10930324;10737800;10634616;10591208;8999933;8889548;8812489;8443605;8224918;8175657;3436525;2055112;1521468;21402992;21245961;19649175;20565250;18617901;21031021;21877723;22312185;23236454;12601044;16274233;18004741 1415 P43320 ABBA01055167;AMYH01012676;BC069535;BF847403;BM667912;CH471095;CR456426;KC683809;L10035;NG_009827;NM_000496;U72400;U72404;Z99916 AAA16864;AAB39700;AAH69535;AGM34047;CAG30312;CAK54418;CAK54717;EAW59688;NP_000487;P43320 Hs.373074 1730744;1774990;2125733 D22S1035;D22S557;SHGC-7693 CCA2;CRYB2;CRYB2A;CTRCT3;D22S665 OTTHUMP00000198622;beta-B2 crystallin;beta-crystallin B2;beta-crystallin Bp;eye lens structural protein APPROVED protein-coding ENSG00000244752 2398 00430 123620;601547;604307 REVIEWED 1346335 CRYGEP crystallin, gamma E, pseudogene 2 2 2 q33.3 202741172 202745720 - 208680975 208685911 - 208972888 208977441 - 9847074;8004095;4033658;3670288 200575 ABBA01062699;ABBA01062700;AC093698;AMYH01011452;K03007;K03008;NG_002762;S72943 2159674 RH71346 CCL;CRYG5;CRYGEP1;D2S1472;G2 APPROVED pseudo 2412 INFERRED 1351411 CRYGA crystallin, gamma A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 2 q34 202793683 202796534 - 208733709 208736542 - 209025464 209028297 - 1580863;6480464 3670288;12507494;19384013;12477932;12011157;10627816;9426193;8889548;3011643;2991114;2258929;19463898;3476929 1418 P11844;Q24JT5 ABBA01062701;AC016697;AMYH01011452;BC114456;BM698524;CH471063;EF426311;M17315;M17316;NG_028157;NM_014617 AAA52108;AAI14457;AAX93220;ABO14696;EAW70435;NP_055432;P11844 Hs.122566 1741483;2136591 GDB:181240;RH71373 CRY-g-A;CRYG1;CRYG5 OTTHUMP00000206677;crystallin, gamma 1;gamma crystallin 5;gamma-A-crystallin;gamma-crystallin 5;gamma-crystallin A;gammaA-crystallin APPROVED protein-coding ENSG00000168582 2408 00433 123660 REVIEWED 1344047 CRYGFP crystallin, gamma F pseudogene 2 2 2 q34 203777668 203780346 + 209717996 209720874 + 210009852 210012530 + 18085818;9847074;4033658 1423 ABBA01062719;AC013409;AMYH01011456;K03009;K03010;NG_001107 2159674 RH71346 CRYG6;CRYGFP1;p1 pseudo 2413 INFERRED 2301266 CRYBG3 beta-gamma crystallin domain containing 3 3 3 3 q11.2 95930143 96053398 + 99078509 99146500 + 97540884 97663830 + 6480464 14702039;12477932;20379614;8889548 131544 B4DLE8;C9J5N2;C9J659;Q68DQ2 ABBA01026939;ABBA01026940;AC110491;AF451988;AK091199;AK098569;AK130907;AK296966;AL831927;AMYH01013351;BC036247;BC050394;BM974654;BX647079;BX648353;CR749313;NM_153605 AAH36247;AAH50394;AAI48427;AAP97687;BAC03608;BAC05338;BAG59510;CAD38587;CAH18168;NP_705833;Q68DQ2 Hs.733378 1716645;1747633;2112758;2129871;2132441;2134607 D3S2782E;D3S4446;G11924;G65533;RH121579;SHGC-77136 DKFZp667G2110;DKFZp686L13211;FLJ60082 OTTHUMP00000214306;beta-gamma crystallin domain containing 3;beta/gamma crystallin domain-containing protein 3 protein-coding 34427 VALIDATED 1351190 CRYGGP crystallin, gamma G, pseudogene 2 2 2 p16.3 51842909 51843625 - 51855874 51856158 - 52002136 52002852 - 2258929 1424 ABBA01075223;AC064868;AMYH01010350;NG_001108;X52628 1828258;1840822;1841988;1865832;1865834;1865836;1865838;1865840;1865842;1865844;1865846;1865848;1865850;1865852;1865854;1865856;2198030 ECD15254;ECD21603;ECD22197;REN3579;REN3580;REN3581;REN3582;REN3583;REN3584;REN3585;REN3586;REN3587;REN3588;REN3589;REN3590;REN3591;stSG617101 CRYGGP1 APPROVED pseudo 2414 INFERRED 733594 CRYBB3 crystallin, beta B3 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013] 22 22 22 q11.23 9400151 9407652 + 23925825 23933324 + 25595825 25603324 + 1580863;6480464;7240710 17474147;8999933;18162101;15914629;15489334;15461802;12477932;12060738;10591208;9183670;8812489;2499686;16159877;8889548 1417 B1AHR5;P26998 ABBA01055166;AMYH01012676;BC069479;BC102021;BC102022;BC107482;BF726163;BM711382;CH471095;CR456427;NG_009828;NM_004076;U71216;X15144;X15145;X15146;Z99916 AAC50972;AAH69479;AAI02022;AAI02023;AAI07483;CAA33242;CAG30313;CAK54419;CAK54718;EAW59686;EAW59687;NP_004067;P26998 Hs.533022 2109197 CRYBB3_8278 CATCN2;CRYB3;CTRCT22;MGC125772;MGC125773;MGC125774 OTTHUMP00000198623;OTTHUMP00000198624;beta-B3 crystallin;beta-crystallin B3;eye lens structural protein APPROVED protein-coding ENSG00000100053 2400 00431 123630;609741 REVIEWED 1347974 CRYGB crystallin, gamma B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 q34 208715542 208719122 - 209007297 209010877 - 1580863;6480464 12507494;19384013;16368877;15815621;15489334;14517968;12876325;12676897;12477932;12060738;12011157;10627816;10521291;9426193;8889548;4065573;3670288;3011643;2777080;2258929;1923840;20800603;20621668;21941057;23288985 1419 P07316 ABBA01062701;AC016697;AMYH01011452;BC074944;BC074945;BC117384;BC117388;BM666147;BY794984;CH471063;M11970;M11971;M19364;NG_028158;NM_005210 AAA52109;AAA52113;AAH74944;AAH74945;AAI17385;AAI17389;AAX93219;ADR82860;EAW70434;NP_005201;P07316 Hs.248102 1741337;1741527;2107965 CRYGB_8280;GDB:180726;GDB:181342 CRYG2;CTRCT39 OTTHUMP00000163868;crystallin, gamma 1-2;gamma-B-crystallin;gamma-crystallin 1-2;gamma-crystallin B APPROVED protein-coding ENSG00000182187 2409 00434 123670 REVIEWED 1318382 CRYGN crystallin, gamma N The beta and gamma crystallins are evolutionarily related families of proteins that are localized to the refractive structure of the eye lens. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 145684532 145694575 - 150757989 150768032 - 151127056 151137099 - 6480464 15853812;12690205;12477932 155051 Q8WXF5 AACC02000108;ABBA01035154;AC005996;AF445455;AMYH01018145;BC043605;BC100878;BC100879;BC100880;BC100881;CH471173;NM_144727 AAI00879;AAI00880;AAI00881;AAI00882;AAL40968;EAL24514;EAW53992;EAW53993;NP_653328;Q8WXF5 Hs.647104 MGC119042;MGC119043;MGC119044;MGC119045 OTTHUMP00000212013;gamma-N-crystallin;gamma-crystallin N;gammaN-crystallin APPROVED protein-coding ENSG00000127377 20458 16761 609603 REVIEWED 735833 CRYGD crystallin, gamma D Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 q33.3 208694577 208697458 - 208986331 208989313 - 1601016;1580863;6480464;7240710 12676897 8943244;12507494;9927684;12011157;8983941;19390652;19382745;19358562;19275895;18795792;18334953;18253099;18079686;17923670;17905830;17724170;17564961;17217786;16981715;16891314;16288201;16046626;16030500;15815621;15722442;15709761;15489334;15451671;15064679;15041957;12876325;12729747;12477932;12107413;12060738;11371638;10915766;10688888;10627816;10521291;9426193;8999933;8733140;4033658;3670288;3025877;3011643;2258929;22655036;20621668;20508808;20553008;20616077;19216553;19633732;19668596;19758984;19937657;21173272;21197114;21184609;21423869;23124202;21432932;21866213;21866214;21527994;21552497;21655238;21827768;21031598;22219628;22289178;18041179;22394327;22328156;23082813;12601044;16274233;22669729 1421 P07320 ABBA01062701;AC093698;AMYH01011452;BC117338;BC117340;CD674533;CH471063;EL946552;K03005;K03006;NG_008039;NM_006891;U66583 AAA52112;AAB38686;AAI17339;AAI17341;AAY24041;ADR82848;EAW70432;NP_008822;P07320 Hs.546247 1856777;2109199 CRYGD_8282;RH71454 CACA;CCA3;CCP;CRYG4;CTRCT4;PCC;cry-g-D OTTHUMP00000163871;gamma crystallin 4;gamma-D-crystallin;gamma-crystallin 4;gamma-crystallin D APPROVED protein-coding ENSG00000118231 2411 00436 115700;123690 REVIEWED 736578 CRYGC crystallin, gamma C Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 2 2 q33.3 208701108 208702872 - 208992861 208994554 - 1601015;1580863;6480464;7240710 10521291 16303126;12507494;12011157;18618005;19390652;19204787;17679936;17327821;15489334;15322286;12876325;12477932;12457849;12060738;11904153;11700327;10914683;10627816;9426193;8999933;8943244;8889548;4065573;4033658;3670288;3025877;3011643;2777080;2258929;1923840;20621668;18839057;21423869;22876111;21436266;22052681;12601044;18004741 1420 P07315 ABBA01062701;AC093698;AMYH01011452;BC074954;BC074955;BU737104;CH471063;K03003;K03004;M11972;M11973;M19364;NG_008038;NM_020989;U66582 AAA52110;AAA52111;AAA52114;AAC50899;AAH74954;AAH74955;AAY24042;EAW70433;NP_066269;P07315 Hs.72910 1741485;1744583;2181980;5492713 GDB:181241;GDB:542901;RH69065;UniSTS:482113 CCL;CRYG3 OTTHUMP00000163869;crystallin, gamma-3;gamma-C-crystallin;gamma-crystallin 2-1;gamma-crystallin 3;gamma-crystallin C APPROVED protein-coding ENSG00000163254 2410 00435 123680;604307 REVIEWED 1345953 CRYZP1 crystallin, zeta (quinone reductase) pseudogene 1 7 7 7 q22 97536047 97538121 - 102728148 102730222 - 102728148 102730222 - 12853948;8088825;7835889 1430 ABBA01057995;AC007683;AC108167;AMYH01017810;L31527;NG_001109;NG_030014 pseudo 2421 INFERRED 735568 CRYL1 crystallin, lambda 1 The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008] 13 13 13 q12.11 2039633 2161963 - 19875806 19998012 - 20977806 21100012 - 1580863;6480464;6907045 15809331;15057823;14702039;12527201;12477932;3170592;19322201;21906983;21988832;23251661 51084 Q9Y2S2 ABBA01068582;ABBA01068583;AF077049;AF087898;AF160216;AK024041;AK301605;AL161715;AL590096;AL606822;AMYH01004947;BC008562;BC071810;BC119660;BC119661;BQ006686;CH471075;NM_015974 AAD27782;AAF67017;AAH08562;AAH71810;AAI19661;AAI19662;AAP97197;BAG51254;BAG63091;EAX08259;EAX08260;EAX08261;EAX08262;EAX08263;EAX08264;EAX08265;NP_057058;Q9Y2S2 Hs.370703 1671486;1719219;1737331;1737473;1748425;1753395;1779177 D13S1023;D13S931;G23580;G64213;RH123328;SHGC-107200;WI-11739 GDH;MGC149525;MGC149526;lambda-CRY L-gulonate 3-dehydrogenase;OTTHUMP00000018097;OTTHUMP00000018098;crystallin, lamda 1;gul3DH;lambda-crystallin homolog APPROVED protein-coding ENSG00000165475 18246 16762 609877 REVIEWED 1320030 CRYGS crystallin, gamma S Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008] 3 3 q27.3 187738926 187744861 - 186256232 186262167 - 1580863;6480464;7240710 19262743;17905830;16141006;15489334;14763903;12529503;12477932;12475213;12093281;12060738;11706012;10837510;10627816;9426193;8999933;7849599;7733876;3670288;2258929;1445197;21447408;17207965;20621668;19358562;19558189;21244846;22995907;21866213;21044950;22593035;23284690;22858140 1427 P22914;Q9UFA7 ABBA01058389;AC068631;AF161703;AF242197;AF242198;AK314172;AL133079;AMYH01013734;BC069478;BC070241;CH471052;L36869;NG_009829;NM_017541 AAA92870;AAD45901;AAF72490;AAH69478;AAH70241;ADQ32938;BAG36855;CAB61399;EAW78194;EAW78195;EAW78196;NP_060011;P22914 Hs.376209 1645207;2107967;2154390;5015619 CRYGS_8283;D11S3114;RH68614;STS-L36869 CRYG8;CTRCT20 OTTHUMP00000210173;OTTHUMP00000210174;beta-crystallin S;crystallin, gamma 8;gamma-S-crystallin;gamma-crystallin S APPROVED protein-coding 2417 00439 116100;123730 REVIEWED 734218 CRYM crystallin, mu Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] 16 16 p12.2 21177343 21221918 - 21269839 21314404 - 734836;1580863;6480464 12471561 17242435;9328354;16740909;11897713;12590647;19165527;19110265;17451686;15489334;12477932;10493829;9285773;8895318;1478656;1384048;20471030;19353593;20018174;18029348;21332720;21900206;21044950 1428 H9KVC2;I3L2W5;I3L325;I3L3J9;I3L3Y1;I3NI53;Q14894 ABBA01028294;AF001550;AF039397;AK290852;AK310424;AMYH01007348;BC008398;BC018061;BG033512;BI860684;BX648477;CH471228;L02950;NG_011610;NM_001014444;NM_001888;U85772 AAB67600;AAB81564;AAB94938;AAC16914;AAH18061;ABM83303;ABM86517;BAF83541;CAI46030;EAW66862;EAW66863;NP_001014444;NP_001879;Q14894 Hs.924 1646935;1658980;1853647;2191551 D16S3201;MARC_26186-26187:1030719768:1;SHGC-60809;SHGC-60878 DFNA40;THBP NADP-regulated thyroid-hormone binding protein;OTTHUMP00000115878;ketimine reductase;mu-crystallin homolog;thiomorpholine-carboxylate dehydrogenase APPROVED protein-coding ENSG00000103316 2418 08831 123740 REVIEWED 2303315 CRYM-AS1 CRYM antisense RNA 1 16 16 16 p12.2 20626473 20644219 + 21219671 21237413 + 21312170 21329912 + 16344560;15616553;15489334;14702039;12477932 400508 A6NIL9 ABBA01028294;AC008740;AF001550;AK123760;AMYH01007348;BC056679;CH471228;DB278209;NR_026675 BAG53954;EAW66864 Hs.578949 FLJ41766;NCRNA00169 APPROVED miscrna 34405 VALIDATED 1349892 CSAG2 CSAG family, member 2 X X q28 151678543 151679391 + 151927734 151928738 + 1580863;6480464 10095106;17342728;16888034;16685391;15120907;12477932;12039054;11205240;11181995;11098082;12367802;12445756;12738743;12925976;15580499;15733385;17216190;18395366;20483736;20734393 728461 Q9Y5P2 ABBA01043702;AC244102;AF002997;AF080246;AF136715;AF268420;AF268421;BC007228;BC119734;BC119735;NM_001080848;NM_004909 AAC29487;AAD37859;AAH07228;AAI19735;AAI19736;NP_001074317;NP_004900;Q9Y5P2 Hs.721609;Hs.735281;Hs.741932 CSAG3;CSAG3B;CT24.2;MGC149851;MGC149852;TRAG-3;TRAG3 CSAG family, member 3B;cancer/testis antigen 24.2;cancer/testis antigen family 24, member 2;chondrosarcoma-associated gene 2/3 protein;taxol resistance associated gene 3;taxol-resistant-associated gene 3 protein APPROVED protein-coding 16847 VALIDATED 1353338 CSAG1 chondrosarcoma associated gene 1 This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] X X X q28 152148038 152154290 + 151653884 151660174 + 151903228 151909518 + 12477932;12039054;17207965;21832049 158511 H9KV60;Q6PB30 ABBA01043700;ABBA01043701;AF002997;AF195880;AF268418;AF268419;AMYH01023240;BC059947;BM810082;CH471169;NG_013228;NM_001102576;NM_153478 AAH59947;ADQ32538;EAW99433;EAW99434;EAW99435;EAW99436;NP_001096046;NP_705611;Q6PB30 Hs.423718 CSAGE;CT24.1 OTTHUMP00000024228;OTTHUMP00000198252;cancer/testis antigen 24.1;cancer/testis antigen CSAGE;cancer/testis antigen family 24, member 1;putative chondrosarcoma-associated gene 1 protein APPROVED protein-coding ENSG00000198930 24294 06475 REVIEWED 1323202 CRYZ crystallin, zeta (quinone reductase) Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008] 1 1 p31.1 74943772 74971315 - 75171170 75199092 - 1580863;6480464 22843503;7835889;16344560;15489334;15146197;14702039;12714703;12477932;11672428;11295131;9698072;8466529;8125298;8088825;20835842;20103721;18029348;17497241;17192395;22863883;21276778;21139048;21890473;21906983;22505724 1429 A6NP24;C9JH92;Q08257 AB209714;ABBA01074425;AC091611;AC135803;AK123469;AK128794;AK223150;AK223201;AK314813;AMYH01000712;BC039578;BC070058;BX647883;BX649061;CH471059;CN368109;DA256305;L13278;L31521;NG_029880;NM_001130042;NM_001130043;NM_001134759;NM_001889 AAA36536;AAH39578;AAH70058;AAK40311;BAD92951;BAD96870;BAD96921;CAI46072;EAX06409;EAX06410;EAX06411;EAX06412;NP_001123514;NP_001123515;NP_001128231;NP_001880;Q08257 Hs.83114 1667321;1775616;1853182;2218444 CRYZ_4643;D1S3201;RH68052;RH69010 DKFZp779E0834;FLJ41475 NADPH:quinone reductase;OTTHUMP00000011194;OTTHUMP00000011210;OTTHUMP00000011211;OTTHUMP00000011212;OTTHUMP00000011213;quinone oxidoreductase;zeta-crystallin APPROVED protein-coding ENSG00000116791 2419 00437 123691 REVIEWED 732204 CSAD cysteine sulfinic acid decarboxylase This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 12 12 12 q13.11-q14.3 53200050 53223033 - 51837714 51860647 - 53551447 53574693 - 1580863;1300048;6480464;6907045;7242427 20162368 16344560;15489334;14702039;12477932;11997111;11752456;21900206;23251661;22718265 51380 B4DL84;C9JTU8;E9PFW9;F8VV11;F8WCW3;H3BQ59;H3BTP4;J3KPG9;Q86V02;Q96JQ3;Q9Y600;Q9Y602 AB044561;ABBA01008317;AC073573;AF116545;AF116546;AF116547;AF116548;AK122681;AK126934;AK128796;AK289659;AK296885;AK315265;AMYH01004477;AV655618;BC018042;BC047466;BC052249;BC098278;BC098342;BC099717;BC105918;BQ028782;CH471054;DA687716;NG_030036;NM_001244705;NM_001244706;NM_015989 AAD32543;AAD32544;AAD32545;AAD32546;AAH52249;AAH98278;AAH98342;AAH99717;AAI05919;BAB60953;BAF82348;BAG37682;BAG53664;BAG59446;EAW96666;EAW96667;EAW96668;EAW96669;EAW96670;EAW96671;EAW96672;NP_001231634;NP_001231635;NP_057073;Q9Y600 Hs.279815 1647991;1679225;5015404;5015619;5020946;5022200;5022651;5024413;5037552;5109281;5118444 BCD2019;D11S2921;D11S3114;D11S3316;D1S1425;D8S2279;L17705;L17877;L17971;L18426;RH93221 CSD;FLJ44987;FLJ45500;MGC119354;MGC119355;MGC119357;PCAP OTTHUMP00000045733;OTTHUMP00000045734;OTTHUMP00000045735;OTTHUMP00000209623;OTTHUMP00000242628;P-selectin cytoplasmic tail-associated protein;cysteine sulfinic acid decarboxylase;cysteine sulfinic acid decarboxylase-related protein;cysteine-sulfinate decarboxylase;sulfinoalanine decarboxylase APPROVED protein-coding ENSG00000139631 18966 16763 REVIEWED 1320993 CRYZL1 crystallin, zeta (quinone reductase)-like 1 This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008] 21 21 21 q21.3 20161267 20213781 - 33883517 33936030 - 34961647 35014160 - 1580863;6480464 10191096;16780588;17497241;16344560;15489334;14702039;12477932;10986039;10830953;22939629;22990118;21139048 9946 A6NHJ8;A6NMA8;A6NND8;A8MZ10;B3KQ77;C9JAL0;C9JNR9;C9JQD0;C9JZK8;C9K0F7;F8WF64;H7C0X3;H7C2K1;H7C338;H7C3I5;H7C3S0;O95825 ABBA01057351;ABBA01057352;ABBA01057353;ABBA01057354;AF029689;AF086550;AF098798;AK001293;AK057604;AK058071;AK315707;AMYH01012211;AP000304;AP000305;AP000306;AP000307;AP000308;BC013155;BC022827;BC032816;BC033023;BC039589;BI599245;BX647276;BX648547;CA426424;DB037192;NM_145858 AAD20219;AAD22381;AAH13155;AAH22827;AAH33023;ABM81935;ABM85116;BAA91605;BAG38068;BAG51939;NP_665857;O95825 Hs.352671 1674305;1690626;1730648;1810110;1812868;1814476;1815800;1816028;1816030;1818648;1818870;1819712;1819714;1820404;1820778;1823326;1823860;1828666;1830434;1832164;1832516;1832800;1833034;1833036;1834396;1834820;1835478;1836226;1836860;1837452;1838526;1840710;1840784;1841004;1841432;1841690;1842048;1842576;1843094;1843144;1844634;1845844;1846078;1846370;2029714;2029716;2029718;2029720;2029722;2029724;2029726;2029728;2029730;2029732;2029734;2029736;2029738;2029740;2029742;2029744;2029746;2029748;2029750;2029752;2029754;2029756;2029758;2029760;2029762;2029764;2029766;2029768;2029770;2029772;2029774;2029776;2029778;2029780;2029782;2029784;2029786;2029788;2029790;2029792;2029794;2029796;2029798;2029800;2029802;2029804;2029806;2029808;2029810;2029812;2029814;2029816;2029818;2029820;2029822;2029824;2029826;2029828;2029830;2029832;2029834;2029836;2029838;2029840;2029842;2029844;2029846;2029848;2029850;2029852;2029854;2029856;2029858;2029860;2029862;2029864;2029866;2029868;2029870;2029872;2029874;2029876;2029878;2029880;2029882;2029884;2029886;2029888;2029890;2029892;2029894;2029896;2029898;2029900;2029902;2029904;2029906;2029908;2029910;2029912;2029914;2029916;2029918;2029920;2029922;2029924;2029926;2029928;2029930;2029932;2029934;2029936;2029938;2029940;2029942;2029944;2029946;2029948;2029950;2029952;2029954;2029956;2029958;2029960;2029962;2029964;2029966;2029968;2029970;2029972;2029974;2029976;2029978;2029980;2029982;2029984;2029986;2029988;2029990;2029992;2029994;2029996;2029998;2030000;2030002;2030004;2030006;2030008;2030010;2030012;2030014;2030016;2030018;2030020;2030022;2030024;2030026;2030028;2030030;2030032;2030034;2030036;2030038;2030040;2030042;2030044;2030046;2030048;2030050;2030052;2030054;2030056;2030058;2030060;2030062;2030064;2030066;2030068;2030070;2030072;2030074;2030076;2030078;2030080;2030082;2030084;2030086;2030088;2030090;2030092;2030094;2030096;2030098;2030100;2030102;2030104;2030106;2030108;2030110;2101436;2101438;2101440;2101442;2101444;2101446;2101448;2101450;2101452;2101454;2101456;2101458;2101460;2101462;2101464;2101466;2101468;2101470;2101472;2101474;2101476;2101478;2101480;2101482;2101484;2101486;2101488;2101490;2101492;2101494;5015861;5015961;5022450;5037552;7185938 D10S16;D10S275;D15S1477;D21S320;D8S2279;ECD06047;ECD07447;ECD08268;ECD08939;ECD09054;ECD09055;ECD10388;ECD10499;ECD10923;ECD10924;ECD11277;ECD11464;ECD12752;ECD13022;ECD15460;ECD16351;ECD17220;ECD17397;ECD17541;ECD17658;ECD17659;ECD18346;ECD18558;ECD18895;ECD19274;ECD19594;ECD19893;ECD20437;ECD21546;ECD21583;ECD21695;ECD21912;ECD22042;ECD22227;ECD22495;ECD22755;ECD22780;ECD23531;ECD24141;ECD24259;ECD24405;REN85863;REN85864;REN85865;REN85866;REN85867;REN85868;REN85869;REN85870;REN85871;REN85872;REN85873;REN85874;REN85875;REN85876;REN85877;REN85878;REN85879;REN85880;REN85881;REN85882;REN85883;REN85884;REN85885;REN85886;REN85887;REN85888;REN85889;REN85890;REN85891;REN85892;REN85893;REN85894;REN85895;REN85896;REN85897;REN85898;REN85899;REN85900;REN85901;REN85902;REN85903;REN85904;REN85905;REN85906;REN85907;REN85908;REN85909;REN85910;REN85911;REN85912;REN85913;REN85914;REN85915;REN85916;REN85917;REN85918;REN85919;REN85920;REN85921;REN85922;REN85923;REN85924;REN85925;REN85926;REN85927;REN85928;REN85929;REN85930;REN85931;REN85932;REN85933;REN85934;REN85935;REN85936;REN85937;REN85938;REN85939;REN85940;REN85941;REN85942;REN85943;REN85944;REN85945;REN85946;REN85947;REN85948;REN85949;REN85950;REN85951;REN85952;REN85953;REN85954;REN85955;REN85956;REN85957;REN85958;REN85959;REN85960;REN85961;REN85962;REN85963;REN85964;REN85965;REN85966;REN85967;REN85968;REN85969;REN85970;REN85971;REN85972;REN85973;REN85974;REN85975;REN85976;REN85977;REN85978;REN85979;REN85980;REN85981;REN85982;REN85983;REN85984;REN85985;REN85986;REN85987;REN85988;REN85989;REN85990;REN85991;REN85992;REN85993;REN85994;REN85995;REN85996;REN85997;REN85998;REN85999;REN86000;REN86001;REN86002;REN86003;REN86004;REN86005;REN86006;REN86007;REN86008;REN86009;REN86010;REN86011;REN86012;REN86013;REN86014;REN86015;REN86016;REN86017;REN86018;REN86019;REN86020;REN86021;REN86022;REN86023;REN86024;REN86025;REN86026;REN86027;REN86028;REN86029;REN86030;REN86031;REN86032;REN86033;REN86034;REN86035;REN86036;REN86037;REN86038;REN86039;REN86040;REN86041;REN86042;REN86043;REN86044;REN86045;REN86046;REN86047;REN86048;REN86049;REN86050;REN86051;REN86052;REN86053;REN86054;REN86055;REN86056;REN86057;REN86058;REN86059;REN86060;REN86061;RH94054;STS-Z41061;stSG607293;stSG607294;stSG607295;stSG607298;stSG607300;stSG607301;stSG607302;stSG607303;stSG607304;stSG607305;stSG607306;stSG607307;stSG607308;stSG607309;stSG607310;stSG607312;stSG607314;stSG607315;stSG607317;stSG607318;stSG607320;stSG607321;stSG607322;stSG607325;stSG607326;stSG607327;stSG607330;stSG607331;stSG607332;stSG607333 4P11;DKFZp434M035;QOH-1 OTTHUMP00000068718;OTTHUMP00000068719;OTTHUMP00000068787;OTTHUMP00000196007;protein 4P11;quinone oxidoreductase homolog 1;quinone oxidoreductase-like protein 1;quinone reductase-like 1;zeta-crystallin homolog APPROVED protein-coding ENSG00000205758 2420 06797 603920 REVIEWED 1353910 CSE choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) 7240710 8808284 1433 2430 601042 1606843 CS citrate synthase The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008] 12 12 q13.2 54951750 54980442 - 56665483 56694175 - 2306877;2306828;6480464;6907045 9712727;938457 9809442;9543345;17298551;16751257;16303743;15714131;15711981;15489334;15242332;14760703;14743216;14702039;12549038;12531911;12477932;12198136;11377425;9792662;7285903;318158;19479947;19615732;20877624;22863883;22318606;22485150;20639865;20972266;21081666;21139048;21890473;18029348;10383393;23456168;22304920;23000965;23139858;23246001;16274233;22797925 1431 B4DJV2;F8VPA1;F8VPF9;F8VR34;F8VRI6;F8VRP1;F8VTT8;F8VU34;F8VVY4;F8VWQ5;F8VX07;F8VX68;F8VZK9;F8W0J2;F8W1S4;F8W4S1;F8W642;H0YH82;H0YIC4;O75390 ABBA01008416;ABBA01008417;ABBA01008418;ABBA01008419;AC073896;AF047042;AF053631;AF147410;AK074956;AK095856;AK098177;AK293263;AK296249;AK307625;AL713477;AMYH01004503;AMYH01004504;BC000105;BC010106;BC072016;BI258893;BI553413;BT007414;BX640838;CB990178;CH471054;CQ782923;DQ403132;NM_004077 AAC25560;AAH00105;AAH10106;AAH72016;AAP36082;AAQ13428;ABD77265;BAC11314;BAG53146;BAG58964;BAH11477;CAE45911;CAF86150;EAW96923;EAW96924;NP_004068;O75390 Hs.743252 1700908;1746887;1788746;1849281;1852103;2121727;2145568;5015619 A002P24;D11S3114;D12S1187E;D6S1936;G64799;RH104081;RH128613;WI-12459 OTTHUMP00000243530;OTTHUMP00000243531;OTTHUMP00000243532;citrate synthase, mitochondrial APPROVED protein-coding ENSG00000062485 2422 00349 118950 REVIEWED 1603470 CSAG3 CSAG family, member 3 X X q28 151627399 151633694 - 151876743 151877747 - 12477932;12039054;11181995;10095106;11098082;11205240;12367802;12445756;12738743;12925976;15120907;15580499;15733385;16685391;16888034;17216190;18395366;20483736 389903 Q9Y5P2 ABBA01043700;AC244102;AF002997;AF080246;AF136715;AF268420;AF268421;BC007228;BC119734;BC119735;CH471169;NM_001129826;NM_001129828 AAC29487;AAD37859;AAH07228;AAI19735;AAI19736;EAW99427;EAW99428;NP_001123298;NP_001123300;Q9Y5P2 Hs.721609;Hs.735281;Hs.741932 CSAG2;CSAG3A;CT24.2;MGC17065;TRAG-3 CSAG family, member 3A;CT24.2;TRAG-3;cancer/testis antigen 24.2;chondrosarcoma-associated gene 2/3 protein;taxol-resistant-associated gene 3 protein protein-coding 26237 14214 PROVISIONAL 7174894 CSAG4 CSAG family, member 4 (pseudogene) X q28 151895973 151896975 - 12477932 100130935 ABBA01043702;AC244102;AF002997;AMYH01023240;BC013171;NR_073432 pseudo 20923 VALIDATED 1603657 CSDC2 cold shock domain containing C2, RNA binding 22 22 22 q13.2 25763426 25779097 + 40286960 40302616 + 41957014 41972670 + 6480464 12801884;18029348;16344560;15489334;15461802;12767259;12477932;10923677;10591208;10446180;9110174;8619474;8573167;17474147 27254 H7C4E7;Q9Y534 AB027011;ABBA01055645;AK313407;AL023553;AL834417;AMYH01012803;BC067113;CH471095;CR456457;CR615903;DB168570;NM_014460;U79280 AAB50218;AAH67113;ACE86662;ACE87346;BAA84704;BAG36202;CAD39079;CAG30343;CAK54438;CAK54737;EAW60442;NP_055275;Q9Y534 Hs.310893 1660157;2151334;2165206 A005T18;RH47292;STS-F10883 PIPPIN;dJ347H13.2 OTTHUMP00000198828;RNA-binding protein pippin;cold shock domain-containing protein C2 protein-coding ENSG00000172346 30359 15140 VALIDATED 737004 CSF1R colony stimulating factor 1 receptor The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. [provided by RefSeq, Jul 2008] 5 5 q32 149413051 149473128 - 149432854 149492935 - 1580863;2299119;2293712;2299092;2293711;2293638;6480464;6907045;7240710 18565574;12381783;18592004;14734466;18510570 8981357;2421165;19453261;19377443;19351817;19321746;19151756;19017797;18997822;18971950;18814279;18788612;18676680;18593464;18294963;17981568;17960171;17893228;17880962;17675037;17420255;17360941;17292918;16823860;16708222;16648572;16631474;16341674;16335952;16170366;16034075;15626739;15297464;15144560;15117969;14738146;14654075;12773394;12529666;12485477;12477932;12372416;12133942;12130514;12031912;11891846;11852791;11847211;11297560;10499626;10022833;9624537;9616179;9380408;9191055;9178909;9027509;8947469;8922060;8786123;8355686;8262059;8001978;7681396;7636265;4028159;3974576;3532121;3525854;3484837;3022923;2986142;2978516;2846185;2524648;2524025;2408759;2406720;2172781;1833648;1829836;1611909;1334406;9857184;10597251;15735664;20574656;21880693;20974809;20181277;20504948;19170196;19375163;19585521;19625176;19692168;19762488;20098615;20379614;7520523;21049007;21041311;16600665;17512498;11850825;7782294;19132917;7683918;22052465;21466808;21890473;10025673;21063905;22955918;22939624;23392676;22375015;22084313;22096574;22153499;22197934;22186992;22365076;22934315;23038421;23408870;23398456;23418320;10648820;21567396;22407921 1436 B5A955;D6RGW1;E9PEK4;H0YAL5;P07333 AB208819;ABBA01026285;ABBA01026286;ABBA01026287;AC011382;AK294467;AK304491;AMYH01015706;BC047521;BC129939;BM825705;BQ028933;BX648599;CH471062;CS166288;EU826593;FB505362;HI638416;JA312081;K03012;M11067;M14002;M14193;M25786;NG_012303;NM_005211;U63963;U78096;X03663 AAA35834;AAA35848;AAA35849;AAA58421;AAA88039;AAB51235;AAB51696;AAH47521;AAI29940;ACF47629;BAD92056;BAG57697;BAG65300;CAA27300;CAJ32237;CAV32774;CBX55881;CCA65436;EAW61749;EAW61750;NP_005202;P07333 Hs.586219 1654774;1668579;1672728;1741665;1742167;1742169;1742865;1792704;1792706;1792708;1795630;1796498;1851272;2115613;2146771;2150928;2161230;2164001;5021962;5491437 CSF1R_1770;D16S674;D5S1469;D5S1865;D5S2602;D5S2619;GDB:181638;GDB:192951;GDB:192952;GDB:212649;MARC_12115-12116:1004707389:1;PDGFRB_1343;PMC156747P2;PMC156747P3;PMC156747P4;RH15986;RH69916;Rpl7;WI-18300;WI-18889 C-FMS;CD115;CSF-1R;CSFR;FIM2;FMS;HDLS;M-CSF-R CD115 antigen;CSF-1 receptor;CSF-1-R;FMS proto-oncogene;McDonough feline sarcoma viral (v-fms) oncogene homolog;OTTHUMP00000160525;OTTHUMP00000224093;macrophage colony stimulating factor I receptor;macrophage colony-stimulating factor 1 receptor;proto-oncogene c-Fms APPROVED protein-coding ENSG00000182578 2433 01269 164770;221820 REVIEWED 1349987 CSF2RBP1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1 22 22 22 q13.1 21147893 21151087 - 35676417 35679810 - 37346572 37349765 - 10591208;9361008 23772 ABBA01055453;ABBA01055454;AL133392;AMYH01012753;NG_002638 CSF2RB2;fF45C1.2 APPROVED pseudo 2437 INFERRED 1351351 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008] X;Y X;Y p22.32 and Yp11.3 1347701 1388827 + 1337693 1378828 + 1580863;6480464;6484113;6907045;7240710 17474147;1358805;2555171;19281803;18955570;18955567;18692472;18678938;18547720;18236400;17681666;17522711;16760463;15489334;14614142;14504109;12759409;12670335;12637324;12604332;12538575;12504125;12477932;12421947;12393492;12384414;11238105;11169747;10734053;10584986;10572088;9723668;9625584;9446667;9211889;9028317;8943427;8910448;8547489;8144676;8086503;7994031;7945472;2828352;2148207;1972780;1832774;1715577;1702217;7957082;10477722;20078425;9685210;21056082;22935703;19099633;21557945;22430742 1438 F2Z3C9;J3JS73;J3JS74;Q14430 ABBA01055739;ABBA01055740;ABBA01055741;ABBA01055742;AK293086;AK301395;AK309630;AL833597;AMYH01021990;BC002635;BC071835;BI868829;BM149332;BX649553;CH471074;D26628;DQ841258;L29348;L29349;M64445;M73832;NG_012280;NM_001161529;NM_001161530;NM_001161531;NM_001161532;NM_006140;NM_172245;NM_172246;NM_172247;NM_172249;NR_027760;S48475;S48539;U93096;X17648;X54935 AAA35908;AAA35909;AAA60961;AAA60962;AAB23942;AAB51535;AAH02635;AAH71835;ABI32309;ABM84030;ABM87375;BAA05656;BAF85775;BAG62930;CAA35638;CAA38697;EAW98673;EAW98674;EAW98675;EAW98676;EAW98677;EAW98678;NP_001155001;NP_001155002;NP_001155003;NP_001155004;NP_006131;NP_758448;NP_758449;NP_758450;NP_758452;P15509 Hs.520937 1731048;2157515;5019246;5020948;5119807 D10S276;DYS430;G35510;GDB:177399;GDB:182005 CD116;CDw116;CSF2R;CSF2RAX;CSF2RAY;CSF2RX;CSF2RY;GM-CSF-R-alpha;GMCSFR;GMR;MGC3848;MGC4838;SMDP4 CD116 antigen;GM-CSF receptor alpha subunit;GMCSFR-alpha;GMR-alpha;OTTHUMP00000014504;OTTHUMP00000014505;OTTHUMP00000014506;OTTHUMP00000014507;OTTHUMP00000014508;OTTHUMP00000014917;OTTHUMP00000014918;OTTHUMP00000014919;OTTHUMP00000014920;colony stimulating factor 2 receptor alpha subunit;granulocyte-macrophage colony-stimulating factor receptor alpha chain;granulocyte-macrophage colony-stimulating factor receptor subunit alpha APPROVED protein-coding ENSG00000198223 2435 02381 300770;306250;425000 REVIEWED 731066 CSF1 colony stimulating factor 1 (macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 p13.3 110254980 110273878 + 110453233 110473616 + 628338;734837;2293710;2293638;2293640;2293641;2293639;5131509;6480464;6907045 12379742;9637704;15205327;18510570;16618760;15728459;18172291;20831658 20455868;10652277;2460758;3264878;1791839;18566389;1739124;17244792;10666185;19017797;19453261;19443701;19432671;19008293;19004987;18852899;18724005;18718581;18708368;18676750;18668547;18632616;18619508;18467591;18435789;18322228;18219369;17967422;17922812;17918257;17916748;17589498;17532041;17516513;17443671;17431224;17420255;17368603;17355643;17243911;17192722;17108334;16951369;16859503;16844084;16673212;16407111;16344560;16320327;16318581;16267391;16204228;15944252;15919699;15866728;15820145;15728521;15640942;15624698;15576295;15494511;15489334;15358207;15261158;15256272;15116247;15001836;14654075;14634568;14605992;12929928;12928417;12894871;12890905;12865350;12790839;12749918;12684699;12548211;12501178;12477932;12456016;12411027;12393446;12372416;12032835;11843897;11792569;11739737;11387343;11369790;11297560;11248655;10857771;9632647;9147389;9131001;8981357;8804363;8422357;8355686;8336080;8262907;8086034;7696959;3500041;3498652;3493529;3264877;3259875;3039346;2996129;2660794;2408759;2145044;1733926;1571567;1540160;1531650;1455231;1334406;15780937;21623375;20485444;19913121;20628086;20628624;20673868;17353186;18751872;18996518;19196448;19561083;19641137;19711348;19926892;19950360;20237496;20436471;20452482;18606301;20504948;20925194;20839921;20839008;21239715;21938481;21481374;22678116;21854753;21791433;15304486;22082370;21945122;22028782;22052465;21895511;22186992;22365076;23233531;21717212;23061794;23251661;23285029;23260168;17907802;20869948 1435 E9PJA2;E9PKP4;E9PQ08;H7BY18;P09603 AB208952;ABBA01068382;ABBA01068383;AI758702;AK291660;AK300401;AK311440;AL450468;AMYH01000940;BC021117;CH471122;CS166282;CS166284;CS166286;DA414355;DB287787;HI519552;HI638410;HI638412;HI638414;JA312075;JA312077;JA312079;JF803735;M11038;M11295;M11296;M27087;M37435;M64592;M76453;NG_030008;NM_000757;NM_172210;NM_172211;NM_172212;U22386;X05825;X06106 AAA52117;AAA52120;AAA59572;AAA59573;AAA64849;AAB59527;AAH21117;AEF12310;BAD92189;BAF84349;BAG62132;CAA29265;CAA29479;CAJ32234;CAJ32235;CAJ32236;CBX54357;CBX55878;CBX55879;CBX55880;CCA65433;CCA65434;CCA65435;EAW56416;EAW56417;EAW56418;EAW56419;EAW56420;EAW56421;NP_000748;NP_757349;NP_757350;NP_757351;P09603 Hs.173894 1644369;1768096;5117849;5117851 D1S3360;GDB:624800;GDB:624803;SHGC-75281 CSF-1;MCSF;MGC31930 CSF-1;OTTHUMP00000013362;OTTHUMP00000013363;OTTHUMP00000013364;OTTHUMP00000013365;lanimostim;macrophage colony stimulating factor;macrophage colony-stimulating factor 1 APPROVED protein-coding ENSG00000184371 2432 00388 120420 REVIEWED 1354508 CSF2 colony stimulating factor 2 (granulocyte-macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008] 5 5 q31.1 131437384 131439758 + 131409485 131411863 + 1580863;5131507;5131475;5131467;5131473;4142837;5131470;5131471;5131508;2317286;5131476;4143440;2317284;5131472;5686795;5686773;6480464;6484113;6907045 21326109;19487471;21478218;20405019;19633061;21474645;21442011;21291297;18557728;19213775;20088864;18848347;20427198;21515263;21537082 2999978;18692472;10666185;9722506;19032770;19494510;19479237;19453261;19379606;19282464;19263529;19258923;19247692;19230854;19225544;19222422;19158269;19141860;19131662;19131452;19050289;19028820;18974840;18974369;18971287;18926300;18830265;18804273;18755511;18701168;18676680;18523302;18441098;18439101;18434187;18353856;18219369;18089573;18027871;17938902;17934321;17914409;17894541;17713553;17703412;17681858;17619839;17533050;17512774;17362254;17355643;17342342;17311927;17273755;17205286;17142110;16949316;16912178;16896315;16783532;16716376;16491014;16487109;16380083;16305336;16211258;16167889;16027123;15927668;15621725;15576295;15541716;15528381;15489334;15479432;15475489;15388264;15388258;15372022;15358207;15340054;15308671;15269821;15245433;15218949;15201279;15129224;15123671;15078892;15009203;14730225;14726527;14662891;14630612;14628073;14567558;14564341;14530365;14512323;14503968;13679820;12954601;12935848;12928384;12926133;12855588;12759409;12744771;12743567;12695562;12663443;12646185;12637324;12629028;12615367;12568301;12562384;15136573;12548211;12538575;12496443;12488507;12477932;12444058;12421569;12397015;12356582;12356579;12171249;12162871;12144536;12050184;12031914;12022701;11963838;11956032;11883735;11880043;11855781;11847009;11763346;11522597;11289721;10734053;10572088;9211889;8910448;8516290;8278375;7957082;7818827;7727786;7695626;3925454;3923623;3898082;3876930;3486413;3083507;2645577;1837174;1737041;1702217;1675789;1569568;15481145;1918997;8018916;7642615;21123547;19913121;20485444;20536507;20603037;20628086;20673868;19164476;19170196;19324950;19559392;19560459;19578876;19625176;19692168;19699526;19730683;19773451;19807655;20015396;20056792;20078425;20452482;20503287;20527084;20382843;20811626;20959405;21052690;21071541;20802406;10477722;20956574;9162089;20233331;20483917;15220135;21262803;21324206;22837488;21724805;18254319;21506110;20829438;18928604;21486701;21705618;22031867;21873076;21931646;22911897;22698406;22698407;22200506;22446963;23585475;23600834;22430742;12565831;23128233;18945465;22655069;23548906 1437 P04141;Q647J8 ABBA01068814;AC004511;AC034228;AF373868;AF510855;AMYH01015612;AY720441;BC108724;BC113924;BC113999;CH471062;CS401638;HC025839;HI574012;M10663;M11220;M11734;M13207;NG_033024;NM_000758;X03021 AAA52121;AAA52122;AAA52578;AAA98768;AAC08707;AAI08725;AAI13925;AAI14000;AAK51563;AAM44054;AAU21240;CAA26822;CAL40350;CBH19850;CBX47495;EAW62353;NP_000749;P04141 Hs.1349 1657793;1770644;1791326;1799850;1800788;1801062;1801426;1847281;1995686;1995688;1995690;1995692;1995694;1995696;1995698;1995700;1995702;1995704;1995706;1995708;1995710;1995712;1995714;1995716;1995718;1995720;1995722;1995724;1995726;2095596;2095598;2095600;2112212;2141918;5015911;5117853;5117855 D5S2591;D5S2781;ECD00779;ECD01256;ECD01399;ECD01587;G15899;GDB:374166;GDB:624806;GDB:624816;PMC102624P2;REN68751;REN68752;REN68753;REN68754;REN68755;REN68756;REN68757;REN68758;REN68759;REN68760;REN68761;REN68762;REN68763;REN68764;REN68765;REN68766;REN68767;REN68768;REN68769;REN68770;REN68771;STS-M11220;STS-M13207;stSG601036;stSG601037;stSG601038 GMCSF;MGC131935;MGC138897 CSF;OTTHUMP00000065962;colony-stimulating factor;granulocyte-macrophage colony stimulating factor;granulocyte-macrophage colony-stimulating factor;molgramostin;sargramostim APPROVED protein-coding ENSG00000164400 2434 00734 138960 REVIEWED 1316788 CSE1L CSE1 chromosome segregation 1-like (yeast) Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 20 20 q13 47096245 47146893 + 47662783 47713497 + 6480464;6484113 22939629;9323134;17719542;7479798;18439902;18425415;18377724;16786158;15489334;15324660;14718574;12972425;12510150;12477932;12061792;11927559;11780052;11724300;11703094;11295109;10523667;10331944;9786944;8963895;8639641;8125298;16169070;20936779;19224336;19615732;20150437;20734115;21290345;21319273;22476051;22863883;9428644;22711543;16196087;17314511;15161933;18457437;21081666;21343306;22318606;22586326;21252943;20473970;8943292;18781797;21139048;21693764;21890473;21906983;21963094;21987572;23189846;19471022;22110766;17110338;19738201;19805454;21983832;22623428;22678362;22952058;23000965;23181366;22967991;18051367;20016921;22053931 1434 B4DUC5;Q9NTS0 ABBA01052731;ABBA01052732;AF053640;AF053641;AF053642;AF053645;AF053651;AI018123;AI973168;AK098618;AK225610;AK297270;AK297314;AK298477;AK299549;AK300589;AK307965;AK312306;AL121903;AL133174;AMYH01011962;BC108309;BC109313;BC109314;BG392946;CH471077;DC402014;EF426455;NM_001256135;NM_001316;NR_045796;U33286 AAC35007;AAC35008;AAC35009;AAC35297;AAC50367;AAI08310;AAI09314;AAI09315;ABO15009;ACE87791;ACT64453;BAG35231;BAG59743;BAG59779;BAG60688;BAG61494;BAG62287;EAW75676;EAW75677;NP_001243064;NP_001307;P55060 Hs.90073 1338093;1645512;1655262;1664148;1725811;1777779;2121363;2150430;2190759 A003P30;D20S1125;D20S575E;D20S887;G61992;RH18314;STS-H67122;YWHAB;Z94673 CAS;CSE1;MGC117283;MGC130036;MGC130037;XPO2 OTTHUMP00000043373;cellular apoptosis susceptibility protein;chromosome segregation 1-like protein;exp2;exportin-2;importin-alpha re-exporter APPROVED protein-coding ENSG00000124207 2431 03217 601342 REVIEWED 1348418 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008] 22 22 q13.1 35648168 35664764 + 37309675 37336481 + 632531;1601020;1580863;6480464;6484113;6907045 7643220;17145927 9410898;17828305;1702217;19065143;18804346;18692472;18547720;18374598;18326494;18322230;18294864;17667962;17362254;9389692;9278420;9257712;9254654;9211889;9195918;9162089;8752899;8666948;8666899;8649415;8631962;8278375;8246974;8213838;8180376;7896837;7796808;7775438;7682176;7636265;7556069;2645577;2157779;2151610;1833065;1833064;1638019;1424804;7527392;1495999;16767694;16754968;16007196;15461802;15308671;15060062;12488507;12477932;12393492;12384414;12202242;11557047;11551900;11207369;11122381;11101310;10772872;10753826;10736232;10704825;10490850;10477722;10362354;9973406;9677359;9516124;21247258;21205713;19913121;20628086;20654748;19453261;20078425;21207215;20472554;20516062;20802515;21071541;22935703;23108143;20705940;21176354;23572530;21965659;22138694;12637324 1439 B0QY07;B4DZL8;P32927;Q6NSJ8 ABBA01055451;ABBA01055452;ABBA01055453;AK302993;AL008637;AL133392;AMYH01012753;BC070085;CH471095;CR456428;M59941;NG_008040;NM_000395 AAA18171;AAH70085;BAG64130;CAG30314;CAK54420;CAK54719;EAW60125;EAW60126;NP_000386;P32927 Hs.592192 1684248;1722259;1722261;1722297;1732187;1775878;1854777;2122051;2128246 D22S102;D22S527;G15967;G60036;G60037;G60062;RH17707;RH47094;WIAF-1672 CD131;CDw131;IL3RB;IL5RB;SMDP5 GM-CSF/IL-3/IL-5 receptor common beta subunit;GM-CSF/IL-3/IL-5 receptor common beta-chain;OTTHUMP00000197801;OTTHUMP00000197802;colony-stimulating factor-2 receptor, beta, low-affinity;cytokine receptor common subunit beta;interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity) APPROVED protein-coding ENSG00000100368 2436 00739 138981;614370 REVIEWED 1607084 CSDE1 cold shock domain containing E1, RNA-binding 1 1 p22 115061060 115102147 - 115259534 115300671 - 6480464 21145461;2204029;17947529;17159903;17081983;16710414;16381901;16356927;16344560;15928332;15489336;15489334;15314026;14702039;12667457;12477932;11076863;11051545;10049359;10048485;9110174;8619474;8439573;2052355;16169070;17474147;20379614;16751776;20936779;21048031;19913121;20628086;22863883;15342556;8889548;19322201;21628590;18781797;20360068;20972266;21139048;21890473;21906983;21963094;22586326;22053931;22190034;22505724 7812 E9PJK7;E9PKN4;E9PLD4;E9PLT0;E9PNG3;G5E9Q2;Q9Y2S4 AB020692;ABBA01068467;AF070542;AF077054;AK022516;AK022528;AK130392;AK290146;AL050150;AL096773;AL110192;AMYH01000967;AY049788;BC017662;BC021692;BC032446;BP202324;BU681634;BX479150;BX648561;BX648780;CH471122;CR749378;CR749431;DB076150;NM_001007553;NM_001130523;NM_001242891;NM_001242892;NM_001242893;NM_007158 AAC28634;AAD27787;AAH21692;AAH32446;AAL15445;BAA74908;BAB14073;BAB14080;BAF82835;CAB43294;CAB53670;CAH18231;CAH18269;CAL37736;CAL38044;CAL38356;CAL38492;CAL38500;EAW56612;EAW56613;EAW56614;EAW56615;EAW56616;EAW56617;EAW56618;EAW56619;NP_001007554;NP_001123995;NP_001229820;NP_001229821;NP_001229822;NP_009089;O75534 Hs.69855;Hs.731496 2174814;2181601;5109731;5123903 D1S2038E;RH64700;SHGC-32741;WI-11939 D1S155E;DKFZp779B0247;DKFZp779J1455;FLJ26882;RP5-1000E10.3;UNR N-ras upstream gene protein;NRAS-related;OTTHUMP00000013880;OTTHUMP00000013881;OTTHUMP00000013882;OTTHUMP00000013883;OTTHUMP00000234861;OTTHUMP00000234862;OTTHUMP00000234863;cold shock domain-containing protein E1;upstream of NRAS protein-coding ENSG00000009307 29905 15949 191510 VALIDATED 1350955 CSF3 colony stimulating factor 3 (granulocyte) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes. The active protein is found extracellularly. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010] 17 17 q11.2-q12 35425214 35427592 + 38171614 38174066 + 1580863;2317284;2311241;5133738;5131473;5133737;5134350;5133733;5133731;5133732;6480464;6907045 18848347;18832793;20405019;9374735;17656664;21373266;21396376;21155037 14587040;12954601;12946100;12717025;12676791;12636092;12627849;12568301;12562880;12548211;12477932;12456601;12397015;12393561;12152985;12034575;12027409;12009905;11920209;11877288;11861308;11795665;11436203;10617744;10584986;10473051;10364174;8794774;8708536;8554326;7685117;7524894;7522243;7518249;3501046;3499671;3494801;3484805;15664994;12393522;2420009;19453261;19258923;19172109;3034599;2456256;2453015;2448221;2423327;1692828;1281794;1281454;19151252;19141860;18952897;18806347;18785976;18676680;18675273;18633131;18597629;18537187;18515229;18484240;18358673;18353856;18297540;18219369;18196568;18095095;18029348;17894541;17879956;17852446;17703412;17572226;17342342;17176065;17115186;17047971;16980970;16912178;16822885;16735597;16498082;16492764;16230423;16211258;16051386;16037394;15616013;15576295;15218949;15214947;15019810;14769149;14751388;21999467;22528488;19913121;20435882;20485444;20628086;20673868;20179985;20237318;20557950;20957751;16712791;20523065;20021260;20012635;20959405;19526310;15028279;15622763;19170196;19539215;19625176;19640182;19692168;19789190;20172861;20237496;20361316;20452482;20503287;20680910;21079612;21092001;21262770;22465760;21039040;22120987;21224471;21334074;21738478;20810026;21524920;21539498;21844566;21645282;22171570;21335665;22440005;22045733;22443081;21273924;22313638;21981141;22944463;23244154;22751169;23087180;23319418;23530240;23548906;21935680;22829643;23063381;22336152 1440 J3KTH8;J3QRD4;J3QRX2;P09919;Q6FH65;Q8N4W3 AB102881;ABBA01031851;AC090844;AF388025;AK290247;AK298116;AK313509;AMYH01008378;BC033245;CB127794;CD013926;CH471152;CR541891;FB704344;HM132049;M13008;M17706;M20922;NM_000759;NM_001178147;NM_172219;NM_172220;NR_033662;X03438;X03655;X03656 AAA03056;AAA35882;AAA66353;AAH33245;AAK62469;ADI49832;BAD89410;BAF82936;BAG36289;BAG60399;CAA27168;CAA27290;CAA27291;CAG46689;CAS03439;EAW60626;EAW60627;EAW60628;NP_000750;NP_001171618;NP_757373;NP_757374;P09919 Hs.2233 1722243;1741199;1794518;1797440;1855889;2162567 CSF3_10.2;D17S2007;G60027;GDB:178573;PMC316641P2;RH18072 C17orf33;CSF3OS;G-CSF;GCSF;MGC45931 OTTHUMP00000164325;OTTHUMP00000164326;OTTHUMP00000164327;OTTHUMP00000164328;filgrastim;granulocyte colony-stimulating factor;lenograstim;pluripoietin APPROVED protein-coding ENSG00000108342 2438 00736 138970 REVIEWED 1319271 CSF3R colony stimulating factor 3 receptor (granulocyte) The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010] 1 1 p35-p34.3 36704231 36721096 - 36931644 36948915 - 5133739;5133738;6480464;6907045;7240710 17185469 20237318;7775438;7682568;7514305;7512720;2480598;2147944;1833306;1717255;1701053;1530796;7542747;1371413;19258923;18923646;18536571;17703412;17572226;17494858;17187068;17047971;17024119;16985178;16493051;16492764;16033816;15644419;15489334;15470047;15370243;15123426;14992583;14751388;14737106;14587040;14557262;12660437;12586631;12477932;12422946;12133942;12100165;12012328;11920194;11911419;11714811;11468284;10837195;10729720;10364174;9864141;9824671;9790917;9368043;9187659;8889548;8855939;8708536;8664280;8554326;8197119;20471446;20654748;20696205;16344560;20557950;19794089;20819538;19453261;19453968;19620628;19833857;20503287;19099633;21155715;22796466;17001306;21129254;21641233;23656643;23159284;22146088 1441 E1B6W6;E9PK56;H0YE86;Q99062 AB209656;ABBA01023295;AC119675;AK307242;AMYH01000497;AY148100;BC040954;BC053585;BI912247;BU681211;BX370109;CH471059;DA858302;DQ424902;M59818;M59819;M59820;NG_016270;NM_000760;NM_156039;NM_172313;S71484;X55720;X55721 AAA63176;AAA63177;AAA63178;AAB20660;AAH53585;AAN05790;ABD83667;BAD92893;CAA39252;CAA39253;EAX07354;EAX07355;EAX07356;EAX07357;EAX07358;NP_000751;NP_724781;NP_758519;Q99062 Hs.524517 1647500;1795632;2151760;5117807;5117809 CSF3R_1336;GDB:607675;GDB:607682;RH78993;SHGC-74604 CD114;GCSFR CD114 antigen;G-CSF receptor;G-CSF-R;OTTHUMP00000009703;OTTHUMP00000009704;OTTHUMP00000009705;granulocyte colony-stimulating factor receptor APPROVED protein-coding ENSG00000119535 2439 00737 138971;162830 REVIEWED 1604805 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Dec 2012] 10 10 10 q11.21 39637088 39685330 + 42953940 43000756 + 43633934 43680750 + 6480464;6907045 11788602;15489334;14702039;12477932;12446672;12433924;16385451;19196962;19298595;22590693 55454 Q8N6G5 AA721408;AB079252;AB090811;ABBA01049996;AC010864;AF086458;AF116646;AK074474;AK125300;AMYH01002284;AMYH01002285;AMYH01002286;BC030268;BX102005;BX640967;BX641073;CH471160;DA674683;DB291068;NM_018590 AAF71068;AAH30268;ABM82395;ABM85579;BAB85092;BAC55935;BAC55936;BAG54179;CAE45982;CAE46036;EAW86586;EAW86587;NP_061060;Q8N6G5 Hs.657569;Hs.744559 2123141;2156236 A008J24;UniSTS:51004 CHGN2;DKFZp686H13226;FLJ43310;GALNACT-2;GALNACT2;MGC40204;PRO0082 OTTHUMP00000019478;beta 4 GalNAcT-2;beta4GalNAcT-2;chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2;chondroitin beta1,4 N-acetylgalactosaminyltransferase 2;chondroitin sulfate GalNAcT-2;chondroitin sulfate N-acetylgalactosaminyltransferase 2 protein-coding ENSG00000169826 24292 11348 REVIEWED 1351257 CSH2 chorionic somatomammotropin hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008] 17 17 q24.2 59303104 59304821 - 61949372 61951089 - 1580863;6480464 15531513;15489334;15231748;12703979;12477932;10944529;9312053;8674830;7169009;7072716;6300056;6209277;6208192;5286363;4712450;3030680;2744760;1980158;1378436;593368;438159;22387044;21737519 1443 A6NIT4;B1A4H9;H0YM39;P01243 ABBA01035315;AC015651;AMYH01008549;AMYH01008550;BC022044;BC035965;BC119748;CR615915;EU421716;J00289;J03071;M15894;NM_020991;NM_022644;NM_022645;V00573 AAA52116;AAA52553;AAA98747;AAH22044;AAH35965;AAI19749;ABM83752;ABM87071;ABZ88723;ABZ88724;ABZ88725;CAA23836;NP_066271;NP_072170;NP_072171 Hs.654515 1777385;2110851;5014941 D17S254;RH66837;STS-J03756 CS-2;CSB;hCS-B chorionic somatomammotropin B;chorionic somatomammotropin hormone 2;placental lactogen APPROVED protein-coding ENSG00000213218 2441 06688 118820 REVIEWED 1342785 CSHL1 chorionic somatomammotropin hormone-like 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q24.2 56375014 56376667 - 59340697 59342350 - 61986965 61988618 - 1580863;6480464 2744760;12477932;8083227;3030680;1980158;1378436;12370315;19913121;20628086 1444 H0YKQ4;H7C3R7;I6L999;J3QT06;Q14406 ABBA01035315;AC127029;AMYH01008552;BC029365;BC119747;CH471109;EU421713;HC006888;J03071;M15895;NM_001318;NM_022579;NM_022580;NM_022581 AAA52550;AAH29365;AAI19748;CBH19249;EAW94245;EAW94246;EAW94250;EAW94253;EAW94262;EAW94264;NP_001309;NP_072101;NP_072102;NP_072103;Q14406 Hs.655225 1339379;1680024;1791996;1797442;2217206;5014941 CSH1_2237;CSHL1_2704;D17S701;PMC134699P2;RH93308;STS-J03756 CS-5;CSHP1;CSL;MGC149868;hCS-L chorionic somatomammotropin CS-5;chorionic somatomammotropin hormone-like 1;chorionic somatomammotropin-like;growth hormone cluster;lactogen-like APPROVED protein-coding ENSG00000204414 2442 04623 603515 REVIEWED 1601858 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 8 8 8 p21.3 18225010 18503692 - 19305952 19584374 - 19261672 19540261 - 6480464;6907045 12163485;11514575;11788602;17145758;16344560;15489334;14702039;12975309;12477932;12446672;19701759;19730683;20379614;21160489;22939629;22156920 55790 E5RGB2;E5RGK2;E5RJB6;E5RK93;Q8TDX6 AB071403;AB081516;ABBA01021554;ABBA01021555;ABBA01021556;ABBA01021557;ABBA01021558;AC090541;AC090786;AC116376;AK002124;AK002126;AK023822;AK055154;AK314625;AL157483;AMYH01018554;AMYH01018555;AMYH01018556;AY358441;BC060772;BQ016671;BX104931;BX649103;CH471080;CR998055;DA244956;DA404904;DA981630;NM_001130518;NM_018371;NR_024040 AAH60772;AAQ88806;BAA92093;BAB85992;BAC16217;BAG37191;BAG51476;CAB75673;EAW63770;EAW63771;EAW63772;NP_001123990;NP_060841;Q8TDX6 Hs.613729;Hs.721954 1649176;1667960;1698888;1703644;1778113;1853305;2126440;5015861;5022322;5024039;5109281;7185938 AFMA125YC5;D10S16;D11S2560;D16S325;D1S1425;D8S1643;G32206;RH103012;RH68573;SHGC-78756;WI-21956 CSGalNAcT-1;ChGn;FLJ11264;FLJ13760;beta4GalNAcT OTTHUMP00000161400;OTTHUMP00000224750;OTTHUMP00000224752;beta4GalNAcT-1;chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1;chondroitin beta1,4 N-acetylgalactosaminyltransferase;chondroitin sulfate N-acetylgalactosaminyltransferase 1 protein-coding ENSG00000147408 24290 13114 VALIDATED 1352564 CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008] 17 17 q24.2 59326005 59327719 - 61972268 61974021 - 1580863;6480464;6907045 22387044;1378436;593368;19047151;18292525;17400796;17125497;16950818;16807684;16546209;16410683;15713716;15531513;15489334;15231748;15001589;14997482;14702039;14673137;14642004;12682290;12655557;12644709;12477932;11897833;11502836;10966654;10931946;10391209;9329365;9276733;9152628;8943276;8674830;8552145;7984244;7462247;7356479;7169009;7028740;6300056;6269091;6209277;6208192;5810834;5286363;5279528;5279046;5144027;4712450;4675454;3912261;3447173;3030680;2744760;1980158;1549776;611657;438159;386281;377496;71212;16344560;20427283;19290844;20233782;20237496;9312053;20881960;17207965;21765243;21737519 1442 A6NFB4;A8K6C2;B1A4H2;P01243 ABBA01035315;AC040958;AC127029;AK291587;AU134786;BC002717;BC005921;BC020756;BC057768;BC062775;BG436049;BQ004002;BT006926;CH471109;EU421714;HC006886;J00118;J03071;K02401;M25118;M90545;NG_028354;NM_001317;V00593 AAA35721;AAA52115;AAA52551;AAA98621;AAH02717;AAH05921;AAH20756;AAH57768;AAH62775;AAP35572;ABZ88716;ABZ88717;ABZ88718;ADQ31682;BAF84276;CAA23840;CBH19248;EAW94235;EAW94236;EAW94237;EAW94241;EAW94243;EAW94254;EAW94257;EAW94259;NP_001308;P01243 Hs.654390 1797442;2110851;2217206;5014941 CSH1_2237;CSHL1_2704;D17S254;STS-J03756 CS-1;CSA;CSH2;CSMT;FLJ75407;PL;hCS-A CS-1;choriomammotropin;chorionic somatomammotropin A;chorionic somatomammotropin hormone;hCS-A;lactogen;placental lactogen APPROVED protein-coding ENSG00000136488 2440 08350 150200 REVIEWED 1352220 CSN1S2BP casein alpha s2-like B, pseudogene This locus is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Feb 2010] 4 4 4 q13.3 68357288 68370381 + 71033910 71061062 - 70999321 71012421 + 6480464 13679022;12751895 100337616 ABBA01022925;AC104811;AMYH01014273;AW104440;NR_033311 Hs.729824 CSN1S2B APPROVED pseudo 20227 VALIDATED 1343658 CSN1S2AP casein alpha s2-like A, pseudogene This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 68286599 68304477 + 70967692 70985579 + 70933103 70950990 + 1580863;6480464 13679022;12477932;12751895 286828 Q8IUJ1 ABBA01022923;ABBA01022924;AC063956;AMYH01014272;AMYH01014273;AY154892;BC128170;BC128173;BC141914;BC150502;CH471057;NR_003720 AAN85580;EAX05608 Hs.631945 CSN1S2A APPROVED pseudo ENSG00000234124 20230 VALIDATED 1606842 CSN1S1 casein alpha s1 4 4 q21.1 70831388 70846877 + 70796799 70812288 + 6480464 16683014;12633878;11329013;10971580;9820977;9050925;8192860;7698025;7556643;7665586;7619062;20936779;21135174;12477932;12878203;18173839;21361910;17403899;22474075;7790358;18850735;11827172;20304780 1446 D6RF34;E9PDQ1;H0Y8K1;P47710 ABBA01022922;AC108941;AMYH01014271;BC128227;BC128228;BG217918;CH471057;DQ064604;NM_001025104;NM_001890;U23157;X78416;X98084 AAA69477;AAI28228;AAI28229;AAY68392;CAA55185;CAA66708;EAX05598;EAX05599;EAX05600;NP_001020275;NP_001881;P47710 Hs.3155 1675790;1690298;2183786 RH91651;SHGC-68166;STS-X78416 CASA;CSN1;MGC149368 OTTHUMP00000219139;OTTHUMP00000219140;OTTHUMP00000219141;OTTHUMP00000219143;alpha-S1-casein;casein, alpha protein-coding ENSG00000126545 2445 00280 115450 VALIDATED 1312937 CSMD1 CUB and Sushi multiple domains 1 8 8 p23.2 2780282 4839736 - 2792875 4852328 - 6480464 19383911;19240061;19132087;19010793;18614856;18519826;16547280;16421571;16221525;16203795;16153303;15342556;15138198;14702039;14671302;14506705;12975309;12906867;12874026;12696061;11572484;11472063;22542470;20610895;20944657;20953187;15203218;19276661;19960030;20125193;20200978;20379614;20709820;21347282;19669408;23535033;23320435;23568457;16147992;21439553;22688191;21901158;21926974;22424883;23472165;23453885;23382691;19389623;22993228;23251661 64478 E5RIG2;F5GWX4;F5GZ18;F5H2I8;F8W9C3;H7BXU2;Q59FF8;Q96PZ7 AA889055;AB067477;AB209502;ABBA01007075;ABBA01007076;ABBA01007077;ABBA01007078;ABBA01007079;ABBA01007080;ABBA01007081;ABBA01007082;ABBA01007083;ABBA01007084;ABBA01007085;ABBA01007086;ABBA01007087;ABBA01007088;ABBA01007089;ABBA01007090;ABBA01007091;AC009428;AC009707;AC010941;AC012543;AC021523;AC022068;AC022846;AC022910;AC023296;AC026991;AC027251;AC087367;AC087692;AC090875;AC103782;AC103826;AC105998;AC107945;AC113147;AC135324;AF333704;AK126857;AK126936;AK127129;AMYH01018283;AMYH01018284;AMYH01018285;AMYH01018286;AMYH01018287;AMYH01018288;AW293447;AY017307;AY358174;AY407073;BP229721;BX107340;CD634856;CH471153;D51420;FJ695212;NM_033225 AAG52948;AAI56305;AAK73475;AAQ88541;BAB67783;BAD92739;EAW80463;EAW80464;NP_150094;Q96PZ7 Hs.571466 1331550;1336083;1336448;1337398;1338377;1338734;1338751;1339604;1340736;1649013;1656021;1656667;1659652;1663836;1695226;1695438;1697212;1702038;1703294;1709628;1710798;1713077;1714177;1715249;1721209;1721913;1722601;1722797;1723141;1723789;1724859;1725459;1726553;1730227;1730403;1749917;1750785;1751061;1755113;1757135;1758763;1759721;1770939;1774650;1779906;1849256;1850651;1852722;1853978;2128115;2138507;2159600;2176086;2183358;2186990;5021894;5024903;5094811;5106625;7185009;7186252;7187864 39039612;A005D01;AFMB322ZH9;ATT023;B348YA5;D13S1284;D8S1086;D8S1458;D8S1781;D8S1788;D8S1806;D8S1824;D8S1963;D8S201;D8S2032;D8S2045;D8S2103;D8S262;D8S289E;D8S290E;D8S518;DXS1294;G59445;G59989;G60340;G60384;G62657;M94662;RH102098;RH118632;RH119125;RH119192;RH119698;RH119875;RH120326;RH123754;RH12823;RH17882;RH18105;RH18367;RH47868;SHGC-103014;SHGC-105022;SHGC-111636;SHGC-142041;SHGC-144569;SHGC-150802;SHGC-150803;SHGC-154113;SHGC-33623;SHGC-62932;SHGC-68408;SHGC-68813;SHGC-84140;SHGC-85176;WI-13532;WI-13936;WI-15704;ha2356 KIAA1890;PPP1R24;PPP1R65 CUB and sushi domain-containing protein 1;CUB and sushi multiple domains protein 1;OTTHUMP00000224439;OTTHUMP00000224497;OTTHUMP00000224498;protein phosphatase 1, regulatory subunit 24;protein phosphatase 1, regulatory subunit 65 protein-coding ENSG00000183117 14026 10523 608397 VALIDATED 1318780 CSK c-src tyrosine kinase 15 15 q24.1 72861768 72882558 + 75074425 75095539 + 1580863;5134371;5134365;5134363;5134372;6480464;6484113;6907045 10411542;15961079;14975240;9918913 8890164;1945408;15574420;10790433;19288857;19198071;19018258;18482983;18445593;18332219;18268019;18258597;18039857;17951261;17936985;17936276;17692281;17691821;17525734;17491594;17329398;17325034;17223712;17192257;17143285;9553134;9221755;9208935;9172452;9148770;9110174;8619474;8612628;8262983;8125298;7683131;7678701;7544435;7529872;7515063;7513429;7511113;1985196;1720539;1377109;1371489;11872746;11834728;12048194;12402152;9858471;11724572;15175272;17137590;17132222;17125257;17060931;17056000;17018524;17012367;16964398;16859511;16858407;16636672;16532030;16439366;16135530;16002086;15890649;15861137;15749833;15743820;15623523;15489334;15474475;15144186;14993273;14707140;14702039;14657361;14610046;14561750;12871315;12794155;12782282;12707358;12697812;12686554;12665526;12645577;12588871;12547828;12485116;12477932;12473651;12468645;12400005;12387813;12052863;11976726;11971983;11805080;11724538;11695992;11685249;11602604;11433379;11278940;11181701;11158295;11149930;11084024;11035005;10918051;10801129;10753943;10733577;10210201;10037694;10026153;9794236;9624175;9621077;9582365;19757166;16729043;20434462;19913121;20542020;20628086;21490707;16740711;11875070;16005629;16380958;18614016;19147678;19167335;19430479;19430483;19464057;19520085;19561643;19887846;19888460;19960030;20010872;20056178;20414254;20453000;20479155;19565264;21156787;18029348;21045733;8631894;18255255;23383273;21367918;21245141;20360068;21538482;21513978;21139048;21890473;21782877;19322201;19818398;22038627;21909110;21909115;22407130;19262695;22959498;21706016;23042117;23383002;23455922;19380743;21562048;22505724;22521508;23108098 1445 A8K3B6;B2R6Q4;H3BN15;H3BU69;H3BUM9;P41240 AB451288;AB451420;ABBA01060502;AC091230;AK127672;AK223626;AK290531;AK297694;AK298245;AK309344;AK310136;AK312669;AMYH01006794;AW575209;AY007162;BC104847;BC104875;BC106073;CH471136;CR541960;DQ075211;NM_001127190;NM_004383;X59932;X60114;X74765 AAI04848;AAI04876;AAI06074;AAY57329;BAD97346;BAF83220;BAG35551;BAG54548;BAG60052;BAG60511;BAG70102;BAG70234;CAA42556;CAA42713;CAB58562;CAG46758;EAW99311;EAW99312;NP_001120662;NP_004374;P41240 Hs.77793 1666109;1793062;2118639;2181591;2189407;2217208 CSK_3956;MARC_5011-5012:991939428:1;PMC193924P3;RH69961;RH70899;RH77839 MGC117393 C-Src kinase;OTTHUMP00000183471;protein-tyrosine kinase CYL;tyrosine-protein kinase CSK protein-coding ENSG00000103653 2444 00496 124095 VALIDATED 1316806 CSMD3 CUB and Sushi multiple domains 3 8 8 8 q23.3 109421737 110635827 - 113304333 114518418 - 113235157 114449242 - 6480464 18270536;15523607;14702039;12943675;12906867;12477932;11572484;22832960;19528667;20379614;21351276;21139048;19850743;22699663 114788 H7BXX0;Q7Z407 AB067481;AB114604;AB114605;ABBA01037738;ABBA01037739;ABBA01037740;ABBA01037741;ABBA01037742;ABBA01037743;ABBA01037744;ABBA01037745;ABBA01037746;ABBA01037747;ABBA01037748;ABBA01037749;ABBA01037750;ABBA01037751;ABBA01037752;ABBA01037753;ABBA01037754;AC007719;AC009424;AC021264;AC024996;AC027189;AC055788;AC067903;AC087710;AC104380;AC107890;AK095111;AK126252;AMYH01018968;AMYH01018969;AY210419;BC140003;BX648252;CH471060;NM_052900;NM_198123;NM_198124 AAI40004;AAO34702;BAB67787;BAC82443;BAC82444;EAW91944;EAW91945;EAW91946;EAW91947;EAW91948;NP_443132;NP_937756;NP_937757;Q7Z407 Hs.91381 1334768;1334906;1334980;1335686;1336147;1338082;1339506;1340455;1340808;1342012;1645637;1646863;1668469;1679221;1695582;1708142;1713887;1716187;1726513;1731901;1734096;1734102;1746929;1746931;1777049;1851139;2143682;2162210;5014051;5022200;5037552;7185381 AFMB331YA9;D8S1008;D8S1022;D8S1139;D8S1202;D8S1204;D8S1465;D8S1471;D8S1698;D8S1779;D8S1787;D8S2043;D8S2083;D8S2278;D8S2279;D8S49;D8S539;D8S555;D8S588;G10411;G15824;G32131;G62637;G64770;G64771;L18426;RH119374;RH121116;SHGC-1966;SHGC-68831;SHGC-79311 KIAA1894 CUB and sushi domain-containing protein 3;CUB and sushi multiple domains protein 3;OTTHUMP00000211322;OTTHUMP00000211323;OTTHUMP00000211324;OTTHUMP00000211325 protein-coding ENSG00000164796 19291 16329 608399 VALIDATED 1352883 CSN2 casein beta 4 4 q21.1 70855564 70861315 - 70820974 70826726 - 1580863;6480464 15618286;2387396;19400951;16973758;16947075;15489334;12860119;12788072;12477932;12146463;10971580;9795185;9187653;8565637;8112603;7698025;6715339;2717418;1577486;1382974;11864968;19463972;20936779;17403899;21145461;7790358;11551964;21454580;21903097;17620599;11583623;15201285;15147269 1447 P05814 A24287;A30262;ABBA01022922;AC063956;AC108941;AF027807;AMYH01014271;BC069554;BC096194;BC096195;BC096196;BC096197;CH471057;NM_001891;X13766;X17070;X55739 AAC82978;AAH69554;AAH96194;AAH96195;AAH96196;AAH96197;CAA01728;CAA02017;CAA32017;CAA34916;CAA39270;EAX05601;EAX05602;NP_001882;P05814 Hs.2242 1742205;2110337;2153600 CSN2_8285;GDB:193679;SHGC-59528 CASB OTTHUMP00000159775;beta-casein protein-coding ENSG00000135222 2447 00281 115460 VALIDATED 1347365 CSMD2 CUB and Sushi multiple domains 2 1 1 1 p34.3 32251406 32903645 - 33752196 34404030 - 33979609 34631443 - 1580863;6480464 19240061;17474147;16710414;16429158;15489334;14702039;12906867;12477932;11572484;19913121;20628086;18839057;20171287;20360844;20379614;21439553;20467438;22952603;23319000 114784 E7EUA6;Q53TY4;Q5T6B5;Q5TAH7;Q9H4W0 AB067471;AB212622;ABBA01023369;ABBA01023370;ABBA01023371;ABBA01023372;ABBA01023373;ABBA01023374;ABBA01023375;AC115285;AC115286;AC116993;AK022620;AK095627;AK122603;AK127722;AK291019;AL121980;AL139140;AL161643;AL355178;AL596224;AL607106;AMYH01000482;AMYH01000483;AY210418;BC031871;CH471059;NM_001281956;NM_052896 AAH31871;AAO34701;BAB67777;BAC04593;BAC87101;BAD97692;BAF83708;EAX07447;EAX07448;EAX07449;EAX07450;EAX07451;NP_001268885;NP_443128;Q7Z408 Hs.656915 1335854;1337330;1338012;1338435;1643803;1659514;1666036;1681103;1691850;1691894;1692342;1693238;1695834;1706612;1712024;1718517;1720551;1720671;1723951;1724931;1732918;1732930;1733044;1733136;1733142;1759067;1760379;1761479;1766089;1766193;1773570;1776670;1851060;1855523;1856722;2110335;2118872;2139420;2140883;2143097;2145342;2167459;2167879;2170369;2190801;5022663;5037552;7186243 AFM286zb1;AHT035;AL009777;AL010095;AL033572;AL033588;AL033828;AL033981;ATA79C10;CSMD2__4646;D1S1325;D1S1331;D1S1397;D1S1449;D1S1455;D1S1560;D1S1708;D1S201;D1S2147;D1S2182;D1S2783;D1S2830;D1S296E;D1S3152;D1S3386;D8S2279;G09485;G16231;G59149;G59229;LOC127540;RH118686;RH118708;RH119232;RH122460;RH64490;RH98973;SHGC-142122;SHGC-145485;SHGC-149472;SHGC-149559;SHGC-150964;SHGC-74558;SHGC-74559;SHGC-74571;SHGC-78766;SHGC-82706 KIAA1884;dJ1007G16.1;dJ1007G16.2;dJ947L8.1 CUB and Sushi (SCR repeat) domain;CUB and sushi domain-containing protein 2;CUB and sushi multiple domains protein 2;OTTHUMP00000012838 protein-coding ENSG00000121904 19290 13094 608398 VALIDATED 4888740 CSNK1A1P3 casein kinase 1, alpha 1 pseudogene 3 5 98169086 98169412 + 100526776 ABBA01069203;AC022121;AMYH01015493;NG_027923 pseudo 38669 INFERRED 4108843 CSNK1A1P2 casein kinase 1, alpha 1 pseudogene 2 11 11 11 q22.2 99839339 99840716 - 102182877 102189753 - 102677680 102679057 - 20031604 120321 ABBA01039931;AMYH01003992;AP000619;NG_001532;U78045 pseudo 30445 INFERRED 1349233 CSN3 casein kappa 4 4 q21.1 71142922 71151734 + 71108333 71117145 + 1580863;6480464 11827172;1296818;17846126;15866733;15489334;12477932;12146463;11329013;10191473;9050925;8863730;7460900;4018271;12220626;17207965;17350042;18482256;18505157;17403899;22536414 1448 P07498 ABBA01022925;AC105347;AMYH01014273;BC010935;BG191674;CH471057;M73628;NM_005212;U51899;X66417 AAA59456;AAC50772;AAH10935;ADQ32820;CAA47048;EAX05614;NP_005203;P07498 Hs.54415 CSN10;CSNK;KCA OTTHUMP00000159765;kappa-casein protein-coding ENSG00000171209 2446 03411 601695 VALIDATED 2306146 CSNK1A1P1 casein kinase 1, alpha 1 pseudogene 1 15 15 15 q14 13851349 13870756 - 37091301 37110707 - 37091301 37110707 - 12477932 161635 ABBA01038496;AC019016;AMYH01006548;BC028192;BC066972;BG723784;NR_027320 Hs.659822 1751897;1772473;1776389;2142912;2219132 A002I44;HH114__6715;RH44394;SGC38378;SHGC-105791 CSNK1A1P APPROVED pseudo 30446 VALIDATED 1345479 CSNK1G2-AS1 CSNK1G2 antisense RNA 1 19 19 19 p13.3 1886757 1888780 - 1903526 1905548 - 1952526 1954548 - 737633 12477932 16344560;15489334;15342556;10737800 255193 Q8NCQ2 ABBA01002696;AC012615;AMYH01009270;BC029585;BP368884;CH471139;CV378841;DB337348;NR_033400 AAH29585;EAW69432;Q8NCQ2 Hs.374717 C19orf34;MGC39696 APPROVED miscrna ENSG00000180846 28604 16630 VALIDATED 1352235 CSNK1A1L casein kinase 1, alpha 1-like 13 13 13 q13.3 18744648 18747052 - 36575397 36577803 - 37677397 37679801 - 1580863;6480464;6907045 15489334;12477932;11708798;20360068;21890473;21906983;17620599;21988832;23362303 122011 Q8N752 ABBA01021341;AL391383;AMYH01005041;BC028723;CH471075;NM_145203 AAH28723;ABM82157;ABM85341;EAX08587;NP_660204;Q8N752 Hs.512897 2107969 CSNK1A1L_8134 CK1;MGC33182;RP11-532O21.2 CKI-alpha-like;OTTHUMP00000018267;casein kinase I alpha S-like;casein kinase I isoform alpha-like protein-coding ENSG00000180138 20289 13095 VALIDATED 736167 CSNK1A1 casein kinase 1, alpha 1 5 5 q32 148855038 148911200 - 148874845 148931007 - 1580863;2293188;6480464;6484113;6907045 18432252 18067272;10777483;11955436;12000790;12820959;15327769;16753179;19185594;19118383;19050041;18669630;18590726;18411282;18246126;17626781;17192257;16943283;16880514;16565220;15761153;15687492;15635413;15489334;15131121;15003508;14574644;14558941;12477932;12210746;12062430;11884395;11875057;11779193;11583622;11500362;11278595;10961987;10930456;10413673;9765199;9630228;9391750;9360956;9045708;8972483;8404858;8253806;8050587;7797465;7622570;7559483;1409656;19913121;20628086;20696773;18305108;16024788;16061179;16511560;16616143;17318175;19244247;19426738;19759023;19797085;19805514;20348946;21179498;22824801;22916255;21642993;10617630;15557340;16959772;22939629;23028042;20551178;20360068;22017877;19576224;21139048;21890473;21906983;21925390;21963094;22350414;21985131;19322201;20647544;19531213;16371461;9771888;22505724;16344560;19875381;23148689 1452 B4DER9;D6REM4;D6RGE5;E5RG27;E7ETM0;H0Y9X2;Q6PJ06;Q71TU5;Q9UDK3 ABBA01026303;ABBA01026304;AC021078;AF119911;AF218004;AF447582;AK293761;AK294099;AK294942;AK303794;AL701526;AMYH01015700;AMYH01015701;BC007246;BC008717;BC009186;BC020446;BC021971;BC025371;BC040473;BC105984;BT019829;BT019830;BU618830;CH471062;CR542206;DA144898;DQ082865;HY119498;L37042;NM_001025105;NM_001271741;NM_001271742;NM_001892;X80693 AAC41760;AAF69665;AAG17246;AAH07246;AAH08717;AAH21971;AAH25371;AAL60204;AAV38632;AAV38633;AAY84562;BAG57180;BAG57435;BAG58018;BAG64751;CAA56710;CAG47002;EAW61767;EAW61768;EAW61769;EAW61770;EAW61771;EAW61772;EAW61773;EAW61774;EAW61775;EAW61776;NP_001020276;NP_001258670;NP_001258671;NP_001883;P48729 Hs.529862;Hs.712555 1657579;1670291;1684981;1685660;1700550;1703252;1707468;1712575;1776389;1851081;2142912;2147071;2174184;2184939;5108022 A002I44;G16922;RH103896;RH18493;RH44394;RH66574;RH79736;RH91934;SGC32360;SHGC-56742;SHGC-84529;STS-N33567;WI-11865;WI-17561;X90945 CK1;CK1a;CK1alpha;CKIa;CKIalpha;HLCDGP1;PRO2975 CKI-alpha;OTTHUMP00000224000;OTTHUMP00000224001;OTTHUMP00000224002;OTTHUMP00000224003;casein kinase I isoform alpha;clock regulator kinase;down-regulated in lung cancer protein-coding ENSG00000113712 2451 02739 600505 VALIDATED 734368 CSNK1G2 casein kinase 1, gamma 2 19 19 p13.3 1892161 1932337 + 1941161 1981337 + 1580863;1300048;6480464;6484113;6907045 9403068;19005213;18794808;16189514;15917222;15489334;15342122;15300631;15077195;15057824;15003508;12477932;12062430;9110174;9006905;8619474;16618118;21832049;18029348;21139048;21900206 1455 K7EJC0;K7EP38;K7ESB6;P78368 AB451278;AB451410;ABBA01002695;ABBA01002696;ABBA01002697;ABBA01002698;AC005306;AC012615;AF001177;AMYH01009271;AMYH01009272;AY007134;BC018693;BC018699;BC020972;BT009922;CA423327;CH471139;CR994929;NM_001319;U89896 AAB88627;AAC00212;AAC26983;AAG01997;AAH18693;AAH18699;AAH20972;AAP88924;ABM81621;ABM84806;BAG70092;BAG70224;EAW69426;EAW69427;EAW69428;EAW69429;EAW69430;EAW69431;NP_001310;P78368 Hs.651905 1676282;2136290;2191671 MARC_4365-4366:996679577:1;RH48266;STS-U89896 CK1g2 CKI-gamma 2;casein kinase 1 gamma 2 isoform;casein kinase 1 isoform gamma-2;casein kinase I isoform gamma-2 protein-coding ENSG00000133275 2455 03738 602214 VALIDATED 733311 CSNK1D casein kinase 1, delta This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q25 77795527 77824862 - 80200537 80231594 - 1580863;6480464;6484113;6907045;7240710 17353931;8786104;18977241;18708403;18228528;17962809;17601350;17562708;17192257;17131344;17081983;16189514;16027726;15800623;15489334;15070676;15003508;14761950;12477932;12270943;12270714;12181329;12000790;11955436;11865049;11818547;11278841;11218372;11165242;11161704;10852916;10826492;10617630;10606744;10500146;9990034;9761932;9632646;9558331;9349507;8972483;7797465;7665585;20708156;21900206;22123863;11076968;12221128;12852856;16462731;16618118;17101137;19805222;19839995;20048001;20149345;20508983;7790358;20637175;21422228;19139564;23455922;21832049;22939629;21890473;22981886;23000965;21139048;21906983;22052997;22384121;22405594;22318606;22711876;16870621;18246126;18729074;22948661;22976441 1453 B4DLF1;H0Y2N6;H7BYT1;J3KRM8;J3KRS6;J3QQI9;J3QQU8;J3QS70;P48730 AA825280;AB091044;AB209463;ABBA01019673;AC132872;AK128863;AK291758;AK295638;AK296969;AK303365;AK311248;AMYH01008731;BC003558;BC015775;BC047000;CH471099;DC334821;EF015900;NG_012828;NM_001893;NM_139062;U29171;U31285 AAC50807;AAC50808;AAH03558;AAH15775;ABM64211;ACE86920;ACE87607;BAC10903;BAD92700;BAF84447;BAG58511;BAG59513;BAG64423;EAW89758;EAW89759;EAW89760;EAW89761;EAW89762;NP_001884;NP_620693;P48730 Hs.631725 1671536;1730375;1849325;2110339;2124341;2145595;2153837;2160039;5094048 A005O08;CSNK1D_7771;D17S827E;G34940;RH11500;RH45324;RH70599;SHGC-31593;SHGC-64292 ASPS;CKIdelta;FASPS2;HCKID CKI-delta;CKId;casein kinase 1 delta;casein kinase I isoform delta;tau-protein kinase CSNK1D APPROVED protein-coding ENSG00000141551 2452 02920 600864;604348;615224 REVIEWED 733469 CSNK1G1 casein kinase 1, gamma 1 This gene encodes a member of the casein kinase I gene family. The encoded protein is a serine/threonine kinase that phosphorylates acidic proteins, and participates in pathways for cell growth. [provided by RefSeq, Nov 2011] 15 15 15 q22.1-q22.31 41336661 41526451 - 62244769 62435495 - 64457716 64648442 - 1580863;1300048;2293188;6480464;6484113;6907045 18432252 16344560;15489334;14759258;14702039;12477932;12119564;11124537;8125298;15003508;11980723;18029348;21832049;21680713;21900206;21139048;21906983;18773076 53944 B7Z7D1;Q9HCP0 AB042562;AB042563;ABBA01038892;ABBA01038893;ABBA01038894;ABBA01038895;ABBA01038896;ABBA01038897;ABBA01038898;AC087632;AC100840;AC110054;AF223357;AK023779;AK025179;AK026957;AK126968;AK225960;AL832551;AMYH01006707;AMYH01006708;AMYH01006709;BC017236;BC062995;BC077731;BC130613;BC136504;CF593592;CH471082;DB094870;NM_022048 AAH17236;AAI30614;AAI36505;AAO12758;ADR83004;BAB15601;BAB17838;BAB17839;CAI46142;EAW77670;EAW77671;EAW77673;EAW77676;EAW77677;EAW77678;NP_071331;Q9HCP0 Hs.646508 1673972;1699700;2107971;2120683;2170270;2179915;2180999;5022578;5037552 CSNK1G1_8053;D15S1316;D1S1423;D8S2279;RH103455;RH77796;RH79030;SHGC-64305;WI-16082 CK1gamma1 CKI-gamma 1;OTTHUMP00000163976;casein kinase 1 gamma 1;casein kinase I isoform gamma-1 APPROVED protein-coding ENSG00000169118 2454 606274 VALIDATED 1346188 CSNK2A3 casein kinase 2, alpha 3 polypeptide This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012] 11 11 11 p15.3 11499457 11501040 - 11329897 11331480 - 11373489 11374904 - 20625391;2752008;2174700;1766873;1610905;1577469;15684395;15489334;14646071;12860116;12393879;12102635;11239457;11181995;11092945;8420794;7942276;10094393;14522971 283106 Q8NEV1 ABBA01061148;AC023946;AMYH01003392;AY112721;CH471064;NM_001256686;X64692;X70251 CAA49758;EAW68546;NP_001243615 Hs.654675;Hs.741126 1663120;1712569;1742507;1790301;2121009 CSNK2A1;GDB:197832;STS-M78020;U51866;WI-16945 CSNK2A1P casein kinase 2, alpha 1 polypeptide pseudogene;casein kinase 2, alpha 1 polypeptide-like APPROVED protein-coding ENSG00000254598 2458 VALIDATED 732829 CSNK1E casein kinase 1, epsilon The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.1 37016643 37044035 - 38686697 38714089 - 1580863;2306813;6480464;6484113;6907045 14871824 14702039;12556519;12477932;12270714;12183362;12000790;11875063;11865049;11818547;11583622;11487578;11232563;10899319;10848614;10790862;10591208;10542239;10535959;9674431;9632646;9430669;9349507;8125298;14701732;11884395;16009131;17218255;17353931;7797465;19058789;19043076;18991847;18990770;18708403;18571740;18518968;18518925;18400165;18262492;18258753;18228528;17984998;17962809;17192257;17081983;16818876;16616143;16557393;16528748;16513652;16274701;16237383;16189514;15917222;15767683;15747065;15489334;15461802;15302935;15187983;15133026;15070676;15003508;14722104;19913121;20628086;11076968;12221128;12852856;15327768;16462731;16618118;19693801;19805222;19839995;19874574;19934327;20048001;20072116;20174623;20508983;7790358;20940130;20126544;20507565;21832049;22707389;22939629;21252624;21577200;20360068;22318606;22623531;22609948;21139048;21890473;21900206;21906983;17318175;21988832;22981886;23413191;19322201;20858893;22384121;21670201;22113361;22367616;22797925 1454 B0QY34;B0QY35;B0QY36;H0Y5S9;H0Y645;H0Y682;H7C0Y5;H7C3J2;P49674;Q5U045 AB024597;AB091043;ABBA01055510;ABBA01055511;ABBA01055512;AK223498;AL020993;AMYH01012761;AMYH01012762;BC006490;BC013088;BQ434269;BQ642398;BT019831;BU517079;CF594072;CH471095;CR456429;L37043;NG_016707;NM_001894;NM_152221 AAC41761;AAH06490;AAV38634;ABM83538;ABM86778;BAA92345;BAC10902;BAD97218;CAG30315;CAK54421;CAK54720;EAW60228;EAW60230;EAW60232;EAW60233;EAW60234;NP_001885;NP_689407;P49674 Hs.474833 1670143;1797444;1856428;2118198;2123476 CSNK1E_2280;D22S1252;D22S1551;RH78405;STS-R89850 CKIepsilon;HCKIE;MGC10398 CKI-epsilon;CKIe;OTTHUMP00000199211;OTTHUMP00000199212;OTTHUMP00000199213;OTTHUMP00000199217;casein kinase I isoform epsilon APPROVED protein-coding ENSG00000213923 2453 02919 600863 REVIEWED 7243276 CSPG4P11 chondroitin sulfate proteoglycan 4 pseudogene 11 100631254 AC136698;NG_029302 pseudo 48363 INFERRED 1351467 CSPG4P1Y chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y q11.23 26038443 26042240 + 27629055 27632852 + 12815422 114758 Q96RM9 AC006328;AF332228;NG_004755;NR_001554 Hs.514045 2188799;2188803;2188815;2188817;5107359;5107385 G65863;G66497;G66499;G66500;G66507;G66509 CSPG4LY;CSPG4LYP1;CSPG4P1;CSPG4PY1 chondroitin sulfate proteoglycan 4-like, y-linked APPROVED pseudo ENSG00000172294;ENSG00000240450 16478 400034 VALIDATED 1606764 CSPG4P2Y chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. This gene is identical to the transcribed locus CSPG4P1Y, GeneID 114758, but is represented as non-transcribed because there is no representative transcript available in a public sequence database. [provided by RefSeq, Feb 2011] Y Y Y q11.23 10499937 10503734 - 24738969 24742766 - 26329580 26333377 - 12815422 84664 AC023274;NG_004755 2188799;2188803;2188815;2188817 G66497;G66499;G66507;G66509 CSPG4LYP2;CSPG4P2;CSPG4PY2 APPROVED pseudo 32424 REVIEWED 3129515 CSPG4P4Y chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked Y Y q11.23 10504035 10505346 - 27627443 27628754 + 100287502 AC006328;NG_022953 2188799;2188807;2188815;2188857 G65864;G66497;G66503;G66507 CSPG4P4;CSPG4P7Y pseudo 38535 INFERRED 3207432 CSPG4P3Y chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked Y Y q11.23 10504035 10505346 - 26333679 26334990 - 100287261 ABBA01030397;AC023274;NG_022958 2188799;2188807;2188815;2188857 G65864;G66497;G66503;G66507 CSPG4P3;CSPG4P6Y pseudo 38111 INFERRED 1605891 CSPG4P5 chondroitin sulfate proteoglycan 4 pseudogene 5 15 15 q25.2 82744017 82757402 - 84953013 84966398 - 11572484 114817 Q96PW8 AB067507;ABBA01029456;AC136704;AMYH01006869;NG_006511 BAB67813;Q96PW8 Hs.513096 5107357;5107361;5120415 G66495;G66502;GDB:315469 KIAA1920 APPROVED pseudo 29403 17231 INFERRED 4105740 CSPG4P7Y chondroitin sulfate proteoglycan 4 pseudogene 7, Y-linked Y q11.23 27624457 27626985 + 100287819 AC006328;XM_002344204 XP_002344245 2188793 G66492 chondroitin sulfate proteoglycan 4 pseudogene 7, Y-linked protein-coding 38612 MODEL 4105744 CSPG4P6Y chondroitin sulfate proteoglycan 4 pseudogene 6, Y-linked Y q11.23 26335448 26337976 - 100287758 AC023274;XM_002344203 XP_002344244 2188793 G66492 chondroitin sulfate proteoglycan 4 pseudogene 6, Y-linked protein-coding 38611 MODEL 7243510 CSPG4P8 chondroitin sulfate proteoglycan 4 pseudogene 8 14702039;16751776 440297 Q6ZUQ5 AC135995;AK125436;NR_033579 BAC86164;Q6ZUQ5 Hs.498322 pseudo 48359 VALIDATED 731819 CSNK1G3 casein kinase 1, gamma 3 This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 5 5 5 q23 118803181 118907853 + 122875692 122980364 + 122847793 122952739 + 1580863;1300048;6480464;6484113;6907045 9925945;15489334;15146197;15003508;12477932;7759525;20562859;19451621;16618118;21139048;21890473;21906983;11437445;16186692;16247451;16344560;18239272;19322201;21963094;23000965 1456 H0YBN6;Q9Y6M4 AA989359;ABBA01068936;ABBA01068937;ABBA01068938;ABBA01068939;ABBA01068940;AC008541;AC026422;AF049089;AF049090;AK289405;AK299739;AK316019;AMYH01015591;AMYH01015592;BC047567;BX116822;CH471086;CN286763;DA409424;NM_001031812;NM_001044723;NM_001270572;NM_001270573;NM_001270574;NM_004384 AAD26525;AAD26526;AAH47567;BAF82094;BAG61634;BAH14390;EAW48867;EAW48868;EAW48869;EAW48870;EAW48871;EAW48872;NP_001026982;NP_001038188;NP_001257501;NP_001257502;NP_001257503;NP_004375;Q9Y6M4 Hs.129206;Hs.741716 1665699;1689514;1752291;1785552;1852991;2110341;2114783;2143517;5491802 CSNK1G3;CSNK1G3_3957;D5S2575;D5S452E;RH36174;RH91986;SHGC-106208;SHGC-154893;STS-M78279 CKI-gamma 3;CSNK1G3L CKI-gamma 3;OTTHUMP00000159174;OTTHUMP00000159175;OTTHUMP00000223000;OTTHUMP00000223001;OTTHUMP00000223002;OTTHUMP00000227071;casein kinase 1 gamma 3 isoform;casein kinase I isoform gamma-3 APPROVED protein-coding ENSG00000151292 2456 05034 604253 REVIEWED 733098 CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 3 3 3 p21.3 47545497 47562148 - 47578732 47595363 - 47603728 47621730 - 1580863;6480464 12885772;9950058;19367581;16901907;16299773;15358134;12477932;11076863;8889548 10675 B7Z2E0;O95196 ABBA01024686;AC099778;AC112512;AF059274;AF461087;AF461088;AF461089;AI368601;AI989800;AK294621;AMYH01013144;AMYH01013145;AW003890;BC041406;BM674119;BU732090;CH471055;DB636494;NG_029493;NM_001206942;NM_001206943;NM_001206944;NM_001206945;NM_006574 AAC69612;AAI11584;AAQ04774;AAQ04775;AAQ04776;BAH11826;EAW64829;EAW64830;NP_001193871;NP_001193872;NP_001193873;NP_001193874;NP_006565;O95196 Hs.45127 2108741;2112624;2161701 CSPG5_9165;D3S4374;WI-18411 MGC44034;NGC OTTHUMP00000164796;OTTHUMP00000164797;OTTHUMP00000210429;acidic leucine-rich EGF-like domain-containing brain protein;chondroitin sulfate proteoglycan 5;neuroglycan C APPROVED protein-coding 2467 606775 REVIEWED 730838 CSPG4 chondroitin sulfate proteoglycan 4 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008] 15 15 q24.2 73753718 73792244 - 75966663 76005189 - 734840;5686858;5686859;5686860;5686849;5686852;5686863;5686869;6480464;5686844;5686855;5686862;5686865;5686845;5686848;5686850 8562939;19739253;19604403;19473238;21951366;21679768;20162860;17565360;22243800;20151287;21575186;10976643;22078261;22042562;21864831 10587647;8790396;19204726;18829565;18767415;18634019;18519770;18469852;18292781;17851550;17592550;17591920;17268261;16625365;16455987;16407841;16365873;16335952;16253523;16169245;15504744;15342556;15231748;15210734;15181153;15009727;14573520;12477932;12220645;11278606;10967549;9488735;9013976;12458226;22939629;22999866;20805128;20455858;20448346;19462316;19776755;20379614;21070915;21092857;21123584;21963094;23000965;23359523;21798846;21139048;21987572;22021902;21658254;22004131;22699001 1464 Q6UVK1 ABBA01060538;AC105020;AMYH01006819;AY359468;BC033194;BC128110;BP363063;BQ679485;CA428796;CA438367;CB044012;CH471136;NM_001897;X96753 AAI28111;AAI72270;AAI72576;AAQ62842;CAA65529;EAW99239;EAW99240;NP_001888;Q6UVK1 Hs.513044 1689488 RH80434 HMW-MAA;MCSP;MCSPG;MEL-CSPG;MSK16;NG2 OTTHUMP00000183520;chondroitin sulfate proteoglycan 4;chondroitin sulfate proteoglycan 4 (melanoma-associated);chondroitin sulfate proteoglycan NG2;melanoma chondroitin sulfate proteoglycan;melanoma-associated chondroitin sulfate proteoglycan APPROVED protein-coding ENSG00000173546 2466 03105 601172 REVIEWED 733323 CSNK2A1 casein kinase 2, alpha 1 polypeptide Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 p13 411338 472482 - 463338 524482 - 6480464;6484113;6907045 22317921;8376365;8349691;8288648;8270625;8253806;8247525;8206911;8188256;8139011;8107101;8089108;8058322;8024572;8002936;7983041;7961967;7896000;7876254;7846527;7809103;7794926;7794916;7768894;7689229;7678037;7657714;7651819;7646439;7598724;7592773;7565749;7491787;3128543;2998765;2900140;2874131;2806554;2752008;2663470;2557337;11972058;2174700;10799509;19486891;19282287;19165527;19035320;19027835;18824508;18790693;18682247;18662771;18649047;18614797;18607692;18574673;18566754;18566753;18563533;18560764;18553059;18553055;18548200;18363813;18347021;18242640;18089732;18026141;17935135;17923166;17894550;17699575;17670747;17636126;17629615;17545155;17524418;17113388;17106255;17009010;16880508;16874460;16873060;16837460;16806200;16751801;16651637;16581776;16540521;16428860;16426576;16344560;16342410;16308564;16227438;16225457;16193064;16169070;16157582;16133877;16107342;15955816;15818404;15805470;15740749;15684395;15659405;15637053;15557471;15489334;15469824;15385968;15345747;15342635;15324660;15302935;15287743;15218032;15108354;15082798;15066279;15060571;14993654;14985113;14962846;14756785;14729942;14675149;10491318;10471512;10491172;10448092;10403822;10398585;10381337;10350657;10348343;10094407;10066810;10023679;9990034;9930733;9886053;9858576;9834084;9806882;9804834;9733784;9722526;9685505;9677319;9654140;9647734;9600099;9571630;9558331;9525959;9503018;9461343;9446557;22186626;14667819;14646071;14645218;14634006;14633983;14614449;14608369;14559993;14527438;14527415;12930845;12876286;12860119;12860116;12769847;12748192;12700239;12659875;12628923;12591939;12588975;12568341;12564933;12558502;12527891;12511551;12477932;12450396;12432063;12393879;12297295;12220519;12191471;12176973;12175859;12145206;12107178;12102635;12082111;12037680;11997511;11956194;11940573;11883897;11877451;11861906;11827178;11827177;11827176;11827174;11827172;11827171;11827170;9407077;9213219;9188720;9185604;9153193;9151826;9139659;9115440;9092824;9074495;9045708;9038206;9030586;8972483;8954982;8939955;8806671;8663403;8663267;8663258;8662759;8659106;8639568;8632909;8622969;8622692;8619999;8592152;8548340;8547318;8491187;8420794;8404858;2492519;2271631;2192260;2117608;2046671;1985907;1894695;1766873;1740119;1577469;1541298;1520270;1516134;1425701;1400350;10944435;10641798;10549869;9881639;10964683;11710515;10094392;18418079;16895915;8943850;11988074;17353931;15778465;15225637;12902976;12149649;15893730;11574463;12901717;11827168;11827167;11827166;11827164;11780052;11756447;11742978;11713579;11711551;11709713;11602581;11583622;11557039;11551505;11535139;11535131;11500362;11439109;11378439;11342557;11313925;11290787;11278496;11255227;11239457;11146653;11115400;11092945;11075956;11062072;11038365;11034995;11004567;10994779;10993892;10984616;10970045;10961987;10951572;10942766;10938077;10884347;10852916;10844023;10806407;10806215;10772927;10764593;10760275;10753899;10747897;10737800;10671552;10667577;10650937;10618498;10617630;10580090;10559254;10523317;17391060;21165564;21383183;21419342;19913121;20610541;20628086;20388487;21162802;20356928;20864032;11327722;15896722;21093442;20671611;20719947;18710613;20526659;20664522;16434389;20718998;20625391;12361709;12972610;16085715;16129408;16322471;16325853;16331323;16977309;17088250;17309103;17382325;17827154;1828073;19011756;19361447;19398558;19542537;19556345;19596613;19615732;19616514;19723109;19726289;19839995;19855935;19904978;19923321;19933278;19941816;20026644;20157113;20508983;8635594;9405642;20545769;20711232;20807566;17261582;18062282;20431927;20439735;21182307;20021963;22814265;21576649;21735091;21518957;21702981;20524034;21359197;21527517;3472906;21730285;21486957;10636877;11123317;15033366;15367657;15882073;17476305;20598904;21832049;22863883;22939629;22990118;21270425;22027148;20639865;16196087;21697493;21871133;15717329;16051665;21081666;21559372;21559479;21777522;11704824;15852347;19387550;21711111;21968188;16045761;17620599;22017874;22318606;22325352;22548824;22586326;22267120;22404984;22190719;21110914;22184066;19953087;21139048;21549307;21735095;21739153;21739154;21750986;21750987;21750988;21890473;21906983;21936567;22209233;10857748;12060753;12783858;15824109;16009940;17437719;18981174;19322201;21254166;21624135;21652635;22351691;22406621;9914500;12470599;18560763;19217413;22718630;22824801;7790358;10512750;15282296;18583988;23007634;22506723;23153582;23185622;19738201;20368287;21282530;21963094;21988832;22113938;22675025;22767590;22810585;22869522;23000965;23137536;8887627;16186248;19294699;23349870;23455922;23463506;23752268;21075308;22562247;23317504;22868753;23287549;17586316;17936701;18186541;20078884;21651489;22174317;22768056;22810236;22904299;19039329;20065034;23523798 1457 E7EU96;P68400 AB451279;AB451411;ABBA01053751;ABBA01053752;ABBA01053753;AF011920;AK302583;AK312535;AL049761;AMYH01011655;AU130091;AU131227;AU132198;AU133318;AW876962;AY735339;BC002615;BC011668;BC050036;BC053532;BC071167;BT019792;CH471133;DQ354583;J02853;M55265;NG_011970;NM_001895;NM_177559;NM_177560;S53149;X69951 AAA35503;AAA56821;AAH11668;AAH50036;AAH53532;AAH71167;AAV38595;ABB72474;ABC86794;ABM84028;ABM87373;BAG35434;BAG63838;BAG70093;BAG70225;EAX10665;EAX10666;EAX10667;EAX10668;EAX10669;NP_001886;NP_808227;NP_808228;P68400;Q8NEV1 Hs.644056 1663120;1696172;1712569;1742507;1790301;2121009;2138316;2180218;5016045 16.MMHAP54FLF1.seq;CSNK2A1;GDB:197832;RH70221;SHGC-79161;STS-M78020;STS-T29481;U51866;WI-16945 CK2A1;CKII;CSNK2A3 CK II alpha;CK II alpha 3;CK2 catalytic subunit alpha;OTTHUMP00000029925;OTTHUMP00000029926;casein kinase II alpha 1 polypeptide pseudogene;casein kinase II alpha 1 subunit;casein kinase II subunit alpha;casein kinase ii, alpha 1 polypeptide;protein kinase CK2 APPROVED protein-coding ENSG00000101266 2457 00277 115440 REVIEWED 1315751 CSNK2A2 casein kinase 2, alpha prime polypeptide 16 16 q21 56749312 56789283 - 58191811 58231782 - 1580863;6480464;6484113;6907045 11972058;19130553;19011756;17903308;16335532;15761153;15635413;15489334;15345747;15302935;11827177;11827172;11827170;11827166;11742978;11713579;11711551;11602581;11583622;11557039;11535139;11500362;11378439;11278496;11239457;11146653;11062072;11034995;11004567;10994779;10993892;10984616;10982400;10970045;10961987;10938077;10852916;10844023;10806215;10772927;10764593;10760275;10747897;10671552;10618498;10617630;10559254;10471512;10066810;9930733;9858576;9806882;9722526;9685505;9654140;9600099;9571630;9525959;9461343;9407077;9185604;9151826;9092824;9074495;9045708;8954982;8806671;8663403;8663267;8663258;8659106;8639568;8622969;8592152;8548340;8547318;8491187;8404858;8288648;8253806;8206911;8188223;8139011;8107101;8089108;8058322;7983041;7896000;7794926;7794916;7735329;7689229;7678037;7651819;7491787;3128543;2998765;2900140;2874131;14729942;14702039;14685260;14667819;12930845;12860119;12769847;12591939;12588975;12568341;12564933;12558502;12511551;12477932;12466282;12450396;12432063;12393879;12297295;12145206;12107178;12082111;12037680;11940573;11877451;15218032;2663470;2557337;2806554;2174700;1985907;1766873;1740119;1541298;1520270;1516134;1425701;10964683;10667577;11997511;10799509;9188720;17353931;7768894;19913121;20628086;15367657;17643375;19615732;20379614;21093442;16196087;21730285;21383183;21142136;20811636;22939629;10094392;21486957;11704824;16051665;21139048;21739153;21750982;21906983;22325352;22586326;22863883;10549869;10641798;10944435;18186541;22174317;9881639 1459 H3BNI9;H3BSA1;H3BV19;P19784 ABBA01025296;ABBA01025297;ABBA01025298;AC009107;AI150700;AK090752;AK125922;AMYH01007708;BC008812;CH471092;M55268;NM_001896 AAA51548;AAH08812;ABM83951;ABM87268;EAW82969;NP_001887;P19784 Hs.82201 1643750;1675664;1677072;2124262;2128951;2180702 D16S3204;D16S3208;D16S3223;RH36293;RH98766;SHGC-60810 CK2A2;CSNK2A1;FLJ43934 CK II alpha';OTTHUMP00000164724;casein kinase II subunit alpha' protein-coding ENSG00000070770 2459 00279 115442 VALIDATED 1605630 CSPP1 centrosome and spindle pole associated protein 1 CSPP1 interacts with centrosomes and microtubules and plays a role in cell-cycle progression and spindle organization (Patzke et al., 2005 [PubMed 15580290]; Patzke et al., 2006 [PubMed 16826565]).[supplied by OMIM, Mar 2008] 8 8 8 q13.2 63969919 64102249 + 68139157 68271052 + 67976603 68108849 + 6480464 19129481;16826565;16344560;15580290;14702039;12477932;20519441;21906983 79848 E5RGA5;E5RI67;F2Z2M5;Q1MSJ5 ABBA01041888;ABBA01041889;ABBA01041890;ABBA01041891;ABBA01041892;ABBA01041893;ABBA01041894;AC087359;AC109335;AJ583433;AK026143;AK096205;AK127108;AK308372;AM156947;AMYH01018777;BC022867;BC029445;BX649147;CA447290;CH471068;DA245734;NM_024790 AAH22867;AAI48418;AAI52994;BAB15375;CAE47426;CAJ42307;EAW86932;EAW86933;EAW86934;NP_079066;Q1MSJ5 Hs.370147 1653827;1735798;1772985;2148790;2163846 D8S1409E;RH11702;RH46944;SHGC-36348;SHGC-37325 CSPP;FLJ22490;FLJ38886 OTTHUMP00000226978;OTTHUMP00000226981;centrosome and spindle pole-associated protein 1;centrosome spindle pole associated protein APPROVED protein-coding ENSG00000104218 26193 07991 611654 VALIDATED 1347139 CSNK2B casein kinase 2, beta polypeptide This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. [provided by RefSeq, Jul 2008] 6 6 p21.3 31741636 31745822 + 31633657 31637843 + 6480464;6484113;6907045 10094392;11984006;2666134;1856204;2513884;19091862;19056846;18835879;18824508;18587631;18583988;18560763;18553059;18469858;18451726;17912454;17681943;17092945;17081983;17038328;16895915;16806200;16713569;16225457;15940255;15489334;15485924;15225637;15218032;14667819;14656967;14645218;14634006;14574404;12954211;12902976;12901717;12804768;12748192;12591939;12527891;12511551;12477932;12470599;12432063;12393879;12220519;12145206;12102635;12037680;11972058;11940573;11883897;11861906;11827178;11827177;11827176;11827174;11827171;11827168;11827167;11827166;11713579;11710515;11709713;11583622;11546811;11535139;11485312;11396975;11378439;11298324;11239457;11092945;11062072;10984616;10951572;10931861;10764587;10747897;10679299;10549165;10491318;10403822;10327653;10214938;10094400;9738462;9654140;9571630;9503014;9478999;9299532;9188720;9185604;9151826;9092824;9042965;9013635;8943850;8812450;8806671;8806611;8659106;19851886;8548340;8349691;8139011;8107101;8089108;7942276;7838153;7794916;7689229;7578274;7491787;2300566;2276748;1939094;1694965;1541298;10944435;10641798;10549869;9881639;10964683;10799509;9685505;10381337;17353931;15893730;11574463;7768894;10506147;19913121;20628086;21068236;20719947;17643375;18276110;18508765;19011756;19233263;19324893;19542537;19592636;19615732;19759161;19851445;20044958;20372791;20576813;22939629;17391060;18062282;16159877;21142136;22863883;22990118;21514207;20811636;21507959;20797629;21078624;21900206;21944249;21730285;21486957;21968188;14559993;21139048;21750988;21755461;21890473;21963094;21675959;11827172;12628923;18839019;17709345;19616115;22325352;10512750;10398585;19039329;19294699;19738201;21282530;21988832;22562247;22623428;22810585;23000965;23076192;23383273;23402259;23455922;23752268;9677319;18186541;19808671;22174317;22505724;21515457 1460 N0E4C7;P67870;Q5SRQ3;Q5SRQ6 ABBA01038084;AF129756;AK300671;AK308742;AK310551;AK311860;AL662899;AL670886;AL805934;AMYH01016217;AY113186;BA000025;BC112017;BC112019;BX511262;CH471081;CR354443;CR541699;CR753842;CR759761;DQ314868;NM_001320;X16312;X16937;X57152 AAD18081;AAI12018;AAI12020;AAM50092;ABC40727;BAB63386;BAG34801;BAG62356;CAA34379;CAA34811;CAA40442;CAG46500;EAX03472;EAX03473;EAX03474;EAX03475;NP_001311;P67870 Hs.73527 1712122;1712306;1790303;2123770;2189381 CSNK2B;G54062;G54110;MARC_3347-3348:991937077:1;RH16232 CK2B;CK2N;CSK2B;G5A;MGC138222;MGC138224 CK II beta;Casein kinase II beta subunit;OTTHUMP00000029060;OTTHUMP00000029063;OTTHUMP00000029064;OTTHUMP00000029065;OTTHUMP00000060100;alternative name: G5a, phosvitin;casein kinase II subunit beta;phosvitin;protein G5a APPROVED protein-coding ENSG00000204435 2460 00278 115441 REVIEWED 1342895 CSRP2P cysteine and glycine-rich protein 2 pseudogene 3 3 3 q13.33 117658233 117658931 - 120732269 120733222 - 119249679 119250458 - 9286703;8361751;7499425 1467 ABBA01061582;AC073352;AMYH01013419;NG_000852;U72535 1645107 D3S4161 pseudo 2471 INFERRED 1605039 CSRNP3 cysteine-serine-rich nuclear protein 3 2 2 2 q24.3 159936725 160155865 + 166137136 166245458 + 166326157 166545917 + 6480464 17726538;19401682;15815621;14702039;16344560;18029348;20468071;19389623 80034 B8ZZD9;E7EN18;J3KQ49;Q8WYN3 AB063300;ABBA01004918;ABBA01004919;ABBA01004920;ABBA01004921;AC019140;AC108031;AK021765;AK055302;AK056655;AK096497;AK126129;AL049256;AMYH01011227;AMYH01011228;CH471058;DA500249;NM_001172173;NM_024969 AAY24139;BAB13890;BAB79449;BAC86454;BAG51776;EAX11326;NP_001165644;NP_079245;Q8WYN3 Hs.470479 1660556;1671293;1704712;1719733;1734932;1766009;2107653;2145025;2172367 A008B46;D2S1696E;RH123556;RH46251;SHGC-149401;SHGC-31840;SHGC-36838;SHGC-79015;TAIP-2__5189 FAM130A2;FLJ11703;FLJ32093;FLJ44141;PPP1R73;TAIP-2;TAIP2 CSRNP-3;OTTHUMP00000163014;OTTHUMP00000204920;OTTHUMP00000204921;OTTHUMP00000204922;TGF beta induced apotosis protein 2;TGF-beta induced apoptosis protein 2;TGF-beta-induced apoptosis protein 2;cysteine/serine-rich nuclear protein 3;family with sequence similarity 130, member A2;protein phosphatase 1, regulatory subunit 73 protein-coding ENSG00000178662 30729 18144 VALIDATED 1352205 CST10 cystatin 10 (chondrocytes) 79553 AB036743 14858 1314362 CSRNP1 cysteine-serine-rich nuclear protein 1 This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. [provided by RefSeq, Jul 2008] 3 3 3 p22 39123855 39135613 - 39158350 39170105 - 39183342 39195102 - 1580863;6480464 17726538;11526492;15489334;12477932;23080069;19322201;18029348;22321011 64651 Q96S65 AB053121;AB063301;ABBA01024812;AC092053;AL117565;AMYH01013097;BC028213;BC038949;BG536908;CH471055;NM_033027 AAH28213;AAH38949;BAB61065;BAB79450;CAH10719;EAW64565;EAW64566;EAW64567;EAW64568;EAW64569;EAW64570;NP_149016;Q96S65 Hs.370950 1334991;1664910;1680030;1855244;2107873;2111412 AXUD1_8084;D3S3517;D3S3605;D3S3824;RH80080;SHGC-76832 AXUD1;CSRNP-1;DKFZp566F164;FAM130B;TAIP-3;URAX1 AXIN1 up-regulated 1;OTTHUMP00000161967;OTTHUMP00000208991;TGF-beta induced apoptosis protein 3;TGF-beta-induced apoptosis protein 3;axin-1 up-regulated gene 1 protein;cysteine/serine-rich nuclear protein 1 APPROVED protein-coding ENSG00000144655 14300 07347 606458 REVIEWED 1318958 CSRNP2 cysteine-serine-rich nuclear protein 2 The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 12 q13.11-q13.12 50256977 50278325 - 49741257 49763600 - 51454988 51477454 - 6480464 17726538;15489334;15231748;12477932;9110174;8619474;20800603;16344560;8889548;19389623 81566 F8VTU0;F8VVN1;F8VZY2;F8W1G8;Q9H175 AB063302;ABBA01031595;ABBA01031596;ABBA01031597;AC087884;AF052105;AJ298133;AK098442;AK313080;AMYH01004459;AMYH01004460;AMYH01004461;BC017221;BM975428;CH471111;DB059091;DB460042;NM_030809;NR_045072 AAH17221;BAB79451;BAG35906;CAC22252;EAW58173;NP_110436;Q9H175 Hs.524425 1739983;2118435;2136013;2168899;5092856 A004B24;A009B06;D12S1401;D12S1568;G32373 C12orf2;C12orf22;FAM130A1;FLJ25576;PPP1R72;TAIP-12 CSRNP-2;OTTHUMP00000241593;TGF-beta-induced apoptosis protein 12;chromosome 12 open reading frame 22;cysteine/serine-rich nuclear protein 2;family with sequence similarity 130, member A1;protein phosphatase 1, regulatory subunit 72 APPROVED protein-coding ENSG00000110925 16006 12608 REVIEWED 1352848 CSRP2 cysteine and glycine-rich protein 2 CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. [provided by RefSeq, Jul 2008] 12 12 12 q21.1 76918012 76938313 - 75776627 75796930 - 77252496 77272799 - 1580863;6480464 15489334;12861049;12496489;12477932;11672422;10924333;9286703;8824798;8626582;7499425;22939629;21139048;21890473;22318606;22990118 1466 F8VQR7;F8VW96;Q16527 ABBA01053537;AC124784;AMYH01004602;AY349166;BC000992;BT019913;CH471054;NM_001321;U46006;U57646;U95018 AAC27344;AAC51753;AAC51755;AAH00992;AAV38716;ABM81901;ABM85075;EAW97336;EAW97337;NP_001312;Q16527 Hs.530904 1338208;1645107;2128754;5113846 D12S1684;D12S2101;D3S4161;RH70679 CRP2;LMO5;SmLIM LIM domain only 5, smooth muscle;LIM domain only protein 5;LMO-5;OTTHUMP00000242476;OTTHUMP00000242477;OTTHUMP00000242478;OTTHUMP00000242479;cysteine and glycine-rich protein 2;cysteine-rich protein 2;smooth muscle cell LIM protein APPROVED protein-coding ENSG00000175183 2470 03523 601871 REVIEWED 7243135 CST2P1 cystatin SA pseudogene 1 101410546 AL591074;NG_033231 pseudo ENSG00000232595 45042 INFERRED 1352376 CST1 cystatin SN The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008] 20 20 p11.21 23676190 23679574 - 23728190 23731574 - 1580863;6480464 3446578;19343046;15829315;15489334;15340161;12477932;11879580;11788998;11780052;9007972;8708950;8179826;7896273;7690606;3514272;3202964;2837486;1898352;1778989;1471486;19463800;19513549;19587831;21636832 1469 P01037 ABBA01017987;AL591074;AMYH01011783;BC021225;CH471133;J03870;M19169;NM_001898 AAA36115;AAA60299;AAH21225;EAX10134;NP_001889;P01037 Hs.123114 1694482 G42975 OTTHUMP00000030444;OTTHUMP00000164184;cystain-SA-I;cystatin 1;cystatin SA-I;cystatin-1;cystatin-SN;cysteine proteinase inhibitor, type 2 family;salivary cystatin-SA-1 APPROVED protein-coding ENSG00000170373 2473 00460 123855 REVIEWED 1319928 CSRP2BP CSRP2 binding protein CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] 20 20 20 p11.23 18197589 18243750 + 18066527 18117016 + 18122868 18169031 + 1580863;6480464 14702039;12975309;12477932;11780052;10924333;19060904;16189514;15489334;21145461;19103755;18838386;21079607;16344560;21531708;21693764 57325 D6RAU4;Q9H8E8 ABBA01054043;ABBA01054044;AF086492;AF252257;AI199208;AK023634;AK023759;AK297597;AL050321;AMYH01011742;AU140233;BC007537;BC009174;BM552422;BQ691686;CA443252;CH471133;NM_020536;NR_028402 AAG10249;AAH07537;AAH09174;ABM84436;ABM87506;BAB14669;BAG59982;EAX10254;EAX10255;EAX10256;NP_065397;Q9H8E8 Hs.488051;Hs.728790 1647498;1653487;1666274;1670553;1847749;1875996;2122870;2129581 D20S1050;D20S955;REN8680;RH16042;RH46181;SHGC-53793;STS-N40959;Z94381 ATAC2;CRP2BP;KAT14;MGC15388;PRO1194;dJ717M23.1 ADA2A-containing complex subunit 2;ATAC component 2 homolog;ATAC2;CRP2 binding partner;CRP2 binding protein;CRP2-binding partner;CSRP2-binding protein;OTTHUMP00000030351;OTTHUMP00000162798;OTTHUMP00000221577;cysteine rich protein 2 binding protein;cysteine-rich protein 2-binding protein APPROVED protein-coding ENSG00000149474 15904 16765 REVIEWED 737489 CSRP1 cysteine and glycine-rich protein 1 This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] 1 1 q32 199719283 199742873 - 201452658 201476387 - 1580863;6480464 1374386;17486081;17341888;17081983;16964243;16344560;15489334;14702039;12539241;12477932;11790298;10926853;9925910;9507743;7938009;2115670;1385304;20415737;20029029;20379614;21832049;22863883;21139048;21906983;22360420;21882188 1465 A8K268;B4DY28;E9PND2;E9PP21;E9PS42;P21291;Q5U0J2 AB209756;ABBA01027532;AC096677;AK057876;AK122812;AK126445;AK126507;AK131508;AK290133;AK293053;AK302237;AK304415;AMYH01001643;AW163500;BC004265;BC007492;BC018806;BC032493;BT019520;BX537488;BX641046;CA411857;CF453919;CH471067;CR627407;DA163062;DA930181;DB019080;M33146;M76378;NM_001193570;NM_001193571;NM_001193572;NM_004078 AAA35720;AAA58431;AAH04265;AAH32493;AAV38327;BAD18652;BAD92993;BAF82822;BAF85742;BAG53741;BAG63590;BAG65246;CAH10496;CAH10559;EAW91370;EAW91371;NP_001180499;NP_001180500;NP_001180501;NP_004069;P21291 Hs.108080 1656931;1765545;2125906;2156092;5024413 D1S3212;L17877;RH69122;SHGC-149015;SHGC-30236 CRP;CRP1;CSRP;CYRP;D1S181E;DKFZp686M148 LIM-domain protein;OTTHUMP00000033921;OTTHUMP00000228678;OTTHUMP00000228679;OTTHUMP00000228680;OTTHUMP00000228681;cysteine and glycine-rich protein 1;cysteine-rich protein 1 APPROVED protein-coding ENSG00000159176 2469 00470 123876 REVIEWED 733068 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.1 19160154 19180177 - 19203577 19232118 - 1598499;734841;1598503;704404;1580863;6480464;7240710 12642359;12507422;11113014 12127981;7954791;19412328;19293840;19230835;19035361;18513529;18505755;18393774;18331358;17519359;15489334;12878195;12477932;10751147;9234731;8782062;7499425;7490106;22584587;19913121;20628086;19351738;19636821;19752190;19875404;20201937;20474083;18250163;20044516;20301486;15582318 8048 A2TDB8;P50461 AA192614;ABBA01061038;AC009652;AF121260;AI184002;AJ711422;AK313289;AMYH01003431;BC005900;BC024010;BC057221;BF671742;CH471064;EF179182;NG_011932;NM_003476;U20324;U49837;U72894;U72895;U72896;U72897;U72898;U72899 AAA91104;AAA92571;AAD00183;AAD00189;AAF28868;AAH05900;AAH24010;AAH57221;ABM84051;ABM87401;ABN05285;BAG36097;EAW68355;EAW68356;NP_003467;P50461 Hs.83577 1689751;2107975;2133542;2138828;2140822 CSRP3_8775;D11S4012;RH41836;RH70653;RH91852 CLP;CMD1M;CMH12;CRP3;LMO4;MGC14488;MGC61993;MLP LIM domain only 4;LIM domain protein, cardiac;OTTHUMP00000235874;cardiac LIM domain protein;cysteine and glycine-rich protein 3;cysteine-rich protein 3;muscle LIM protein APPROVED protein-coding ENSG00000129170 2472 07525 600824;607482;612124 REVIEWED 6893108 CST13P cystatin 13, pseudogene 20 p11.21 23499783 23522655 + 12477932;20565543 164380 ABBA01016177;AL109954;AL121894;AMYH01011780;BC024006;BC028368;BC033934;BC041171;BC053680;CH471133;FJ895881;NR_001279 EAX10141 Hs.400007 CSTT;CTES6 pseudo ENSG00000204663 44335 VALIDATED 735574 CST11 cystatin 11 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein whose specific function has not been determined. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23504421 23506862 - 23379041 23381482 - 23431041 23433482 - 1580863;6480464 15489334;12477932;12072414;11780052;9007972;8179826;7896273;7690606;3202964;19081178;20565543 140880 Q9H112 ABBA01016177;AF335480;AF335481;AL096677;AMYH01011779;BC121079;BC121080;CH471133;NM_080830;NM_130794 AAI21080;AAI21081;AAL71991;AAL71992;EAX10146;EAX10147;NP_543020;NP_570612;Q9H112 Hs.128100 1699804 RH103509 CST8L;CTES2;SC13;dJ322G13.6 OTTHUMP00000030421;OTTHUMP00000030422;SC13delta;cystatin-11;cystatin-related epididymal-specific protein APPROVED protein-coding ENSG00000125831 15959 16767 609731 REVIEWED 1354411 CST2 cystatin SA The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008] 20 20 p11.21 23752404 23755312 - 23804404 23807312 - 1580863;6480464 3446578;15829315;15489334;15340161;15274116;12477932;12413693;12013824;11879580;11780052;11276250;9007972;8179826;7896273;7690606;6662498;6365094;6283552;3495457;3436950;3202964;2764935;2541223;2363674;1898352;1778989;1471486;1352269;19851296;20198315;17207965;21832049;21846728 1470 P09228 ABBA01012359;AF319564;AL591074;AMYH01011783;BC062679;CH471133;M19671;M19672;M19673;NM_001322 AAA36116;AAH62679;AAK11570;ADQ32080;EAX10133;NP_001313;P09228 Hs.669305 2116611 RH71431 MGC71924 OTTHUMP00000030445;cystatin 2;cystatin S5;cystatin-2;cystatin-S5;cystatin-SA;cysteine-proteinase inhibitor;salivary cysteine (thiol) protease inhibitor APPROVED protein-coding ENSG00000170369 2474 00461 123856 REVIEWED 1322184 CST5 cystatin D The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008] 20 20 p11.21 23804572 23808380 - 23856572 23860380 - 1580863;6480464 8083219;19662683;18615156;15728581;15489334;12477932;11879580;11780052;9007972;8444475;8422752;8340398;8179826;7896273;7690606;3202964;1939105;20379614;20223287;17207965 1473 P28325 ABBA01012360;AL591074;AMYH01011783;BC062678;BC069514;CB985957;CH471133;NM_001900;X59964;X70377 AAH62678;AAH69514;ADQ31945;CAA42590;CAA49838;EAX10132;NP_001891;P28325 Hs.121489 1742371;1768729;5096011 GDB:196500;RH66796;SHGC-11944 MGC71922 OTTHUMP00000030448;cystatin 5;cystatin-5;cystatin-D;cysteine-proteinase inhibitor APPROVED protein-coding ENSG00000170367 2477 00463 123858 REVIEWED 1345836 CST4 cystatin S The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008] 20 20 p11.21 23614277 23617662 - 23666277 23669662 - 1580863;6480464 15489334;12477932;11879580;11780052;10483070;9007972;8636877;8179826;7896273;7690606;6501254;6394600;3496880;3202964;1939105;1898352;1898055;1801729;1778989;1747107;1741693;1471486;1334620;17207965;20383146;21139048;21628590 1472 P01036 ABBA01018717;AF319565;AL359433;AMYH01011783;BC065714;BC074952;BC074953;CH471133;NM_001899;S51222;X54667 AAB24493;AAH65714;AAH74952;AAH74953;AAK11571;ADQ32068;CAA38478;EAX10135;NP_001890;P01036 Hs.654549 1694482;2107011;2116611 CST4_7775;G42975;RH71431 MGC71923 OTTHUMP00000030443;cystatin 4;cystatin-4;cystatin-S;cystatin-SA-III;salivary acidic protein 1 APPROVED protein-coding ENSG00000101441 2476 00462 123857 REVIEWED 1352727 CST6 cystatin E/M The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008] 11 11 q13 65536038 65537552 + 65779462 65780976 + 1580863;6480464 8995380;9099741;19074894;19005484;18754876;18676742;18607344;18506750;17540367;17099723;17043665;16912163;16565075;16356477;15489334;15466187;14676833;12839564;12477932;11348457;9154125;9007972;8179826;3202964;2029847;20074384;19262604;19503093;19551853;23006792;23537643;21092257;21900206;22688893;23088560;22902879 1474 Q15828;Q6IBD2 AA778147;ABBA01024093;ABBA01024094;AI127639;AMYH01003727;AMYH01003728;AP006287;AY145051;BC031334;CH471076;CR456872;CS501266;NM_001323;U62800;U81233 AAB06566;AAB61305;AAH31334;AAN52757;CAG33153;CAM83949;EAW74487;NP_001314;Q15828 Hs.139389 2129534 RH71245 OTTHUMP00000234150;cystatin 6;cystatin M;cystatin M/E;cystatin-6;cystatin-E;cystatin-M;cysteine proteinase inhibitor APPROVED protein-coding ENSG00000175315 2478 03535 601891 REVIEWED 5013874 CST9LP1 cystatin 9-like pseudogene 1 20 20 20 p11.21 23601761 23604652 - 23476401 23479289 - 23528401 23531289 - 11780052;20565543 128820 Q5W188 ABBA01016177;AL121894;AMYH01011780;NG_029361 Q5W188 CTES7C pseudo 39552 INFERRED 736914 CST3 cystatin C The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. [provided by RefSeq, Jul 2008] 20 20 p11.21 23562294 23566574 - 23614294 23618574 - 1580863;2314295;2314304;2314305;2314309;2314320;2314328;2314332;2314333;2314352;2301196;2314350;2314311;2314346;2314308;2314349;2314354;2314297;5686394;5686395;6480464;5686392;2306495;7240710 19887833;19761940;19765773;19596469;19291539;19132849;18940290;18824671;17983622;18723004;18197549;19539088;18374694;19741512;18261165;3517880;18946178;12589965;11134381;17086443;18635848 18418694;18408364;18376131;18373213;18356552;18319326;18317874;18314113;18307033;18280806;18216060;18187137;18089366;18044340;18026100;17998865;17963746;17947596;17903292;17901710;17852801;17852800;17826782;17822797;17728092;17718592;17668246;17660266;17636214;17552057;17537416;17470433;17394021;17353786;17310123;17210589;17192785;17130480;16979980;16838182;16713569;16640527;16612983;16612982;16608402;16481598;16446102;16443201;16437581;16386559;16213753;16188386;16170782;16131730;16049933;16005452;15882666;15860739;15832773;15829557;15728313;15719405;15603510;15489334;15479453;15350470;15340161;15336605;15223845;15212828;15122877;15086483;15037657;15034766;15013312;14726415;14714581;14672279;12938144;12787072;12758063;12738401;12670666;12663624;12483523;12479412;12477932;12101112;12038606;11865157;11815350;11780052;11750287;11711204;11681790;11468325;11276250;11115496;11074789;10993992;10428479;8486384;8179826;6662498;6365094;6283552;3495457;2900981;2764935;2689007;2567273;2541223;2363674;2304899;2013314;1996959;1731767;1352269;14503883;18026102;6203523;7890620;10545518;18613859;19597297;19394726;19359536;19357259;19293566;19252175;19151417;19119287;18953178;18949742;18830724;18815241;18804033;18713542;18703370;18674527;18667743;18594189;18566660;18511756;18508448;18496846;18461289;18454664;20502295;21928225;22426688;20923994;21617716;20574650;20882990;19137579;19403428;19419268;19436062;19446036;19517296;19523634;19585181;19597298;19601795;19636441;19674067;19774637;19808324;19816197;19819453;19861863;19915865;19929276;19938052;20052346;20132026;20157249;20175878;20353367;20413850;20468060;20534741;8083219;20980977;21286018;20806899;20809110;20482807;20802417;20447660;20538834;20692472;20699092;20576828;20849835;20880607;20921817;20399428;20489688;20926009;22287159;20450259;20383146;20885369;21784814;15127951;20858959;21051748;21115625;21415918;21094842;21112096;20879967;21187262;21700821;21757984;22674847;22809763;22947524;23306163;22515481;21069389;21151566;21198422;21315176;21494031;21697790;21388623;23008697;22547045;21470355;22474211;23179198;21518160;22057131;22267378;21710343;21577020;21619490;21274315;21795086;22467317;22663994;21852668;22315498;22207347;22228436;21143385;21782177;21861242;21927796;22008011;22209964;22117908;22139178;22072023;22057374;22307441;22322818;22705926;22278599;22315970;22818840;15174051;22898924;23111743;23026591;23026592;23070277;23142864;23383156;21740322;22669102;22844527;22899766;22349874;23194995;22710694;22978689;23089714 1471 P01034 AB587083;ABBA01016179;ABBA01016180;AK312213;AL121894;AMYH01011782;BC013083;BC110305;BT006839;BX647523;CH471133;CR541988;CR542018;CS208043;HB867228;M27891;NG_012887;NM_000099;X05607;X52255;X61681;X61682 AAA52164;AAH13083;AAI10306;AAP35485;ABM82365;ABW03385;BAG35146;BAJ83816;CAA29096;CAA36497;CAA43856;CAG46785;CAG46815;CAJ44947;CBF57600;EAX10137;EAX10138;NP_000090;P01034 Hs.304682 1657205;1742323;1768729;2114014;2117064 CST3;GDB:196339;SHGC-11944;SHGC-5971;STS-AA037016 ARMD11;MGC117328 OTTHUMP00000030440;OTTHUMP00000164181;OTTHUMP00000164182;bA218C14.4 (cystatin C);cystatin 3;cystatin C (amyloid angiopathy and cerebral hemorrhage);cystatin c;cystatin-3;cystatin-C;gamma-trace;neuroendocrine basic polypeptide;post-gamma-globulin APPROVED protein-coding ENSG00000101439 2475 05056 105150;604312;611953 REVIEWED 1342542 CST7 cystatin F (leukocystatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008] 20 20 p11.21 24877866 24888562 + 24929866 24940564 + 1580863;6480464 9733783;9632704;19192250;18256700;16601115;15752368;15489334;15212960;12477932;12423348;11780052;11079561;10945474;9892200;9007972;8179826;3202964;17207965;21344476;22365146 8530 O76096 AB015225;AB029636;ABBA01048732;AF031824;AF036342;AJ510167;AL035661;AMYH01011787;AMYH01011788;BC015507;BG547285;BT009825;CA449286;CH471133;CR541860;CR541878;NM_003650 AAC35747;AAC39788;AAH15507;AAP88827;ADQ32788;BAA34941;BAB11886;CAD52872;CAG46658;CAG46676;EAX10116;NP_003641;O76096 Hs.143212 1686726 RH46008 CMAP OTTHUMP00000030465;cystatin-7;cystatin-F;cystatin-like metastasis-associated protein;leukocystatin APPROVED protein-coding ENSG00000077984 2479 04458 603253 REVIEWED 736077 CST8 cystatin 8 (cystatin-related epididymal specific) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 20 20 20 p11.21 23545174 23550066 + 23419766 23424660 + 23471766 23476655 + 1580863;6480464 16740002;15489334;12477932;12193387;11780052;10229662;9007972;8179826;7896273;7690606;3202964;19204726;17207965;20565543 10047 A2A2N0;O60676 AA436982;ABBA01016177;AF059244;AL109954;AMYH01011780;AW665128;BC069496;BC069536;BC105113;BC105119;BX096109;CH471133;HC006890;HC044551;NM_001281730;NM_005492 AAC14707;AAH69496;AAI05114;AAI05120;ADQ32901;CBH19250;CBH30605;EAX10144;NP_001268659;NP_005483;O60676 Hs.121602 CRES;CTES5 OTTHUMP00000030434;OTTHUMP00000164183;cystatin 8;cystatin-8;cystatin-related epididymal spermatogenic protein;cystatin-related epididymal-specific APPROVED protein-coding ENSG00000125815 2480 16366 608683 REVIEWED 1606729 CST9 cystatin 9 (testatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23656313 23659876 - 23531047 23534513 - 23583047 23586610 - 6480464 17903292;15060002;12535658;12477932;20383146;20565543 128822 Q5W186 ABBA01016179;AF494536;AL121894;AMYH01011782;BC137302;BC137303;CH471133;NM_001008693 AAI37303;AAI37304;AAM18055;EAX10139;NP_001008693;Q5W186 Hs.698020 CLM;CTES7A OTTHUMP00000030437;cystatin-9;cystatin-like molecule APPROVED protein-coding ENSG00000173335 13261 16768 REVIEWED 1322270 CST9L cystatin 9-like The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23618635 23622652 - 23493369 23497329 - 23545369 23549386 - 6480464 17903292;15489334;15340161;12975309;12644294;12477932;11780052;11756564;9007972;8179826;7896273;7690606;3202964;20565543 128821 Q9H4G1 ABBA01016177;AK312112;AL121894;AMYH01011780;AY358615;BC029656;CH471133;HC006892;HC044795;NM_080610 AAH29656;AAQ88978;ABM84612;ABM87516;ABM87517;BAG35048;CBH19251;CBH30727;EAX10140;NP_542177;Q9H4G1 Hs.121554 CTES7B;FLJ92394;bA218C14.1 OTTHUMP00000030435;cystatin-9-like;testatin APPROVED protein-coding ENSG00000101435 16233 16769 REVIEWED 1320029 CSTA cystatin A (stefin A) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008] 3 3 q21 123526701 123543506 + 122044011 122060816 + 1580863;6480464;7240710 6203523;10908733;18029348;18364739;17985332;17441792;17412564;16969475;16342276;15489334;15175029;15048832;14747998;14503883;12921779;12682854;12581647;12477932;11532941;11451947;11329013;10353845;9769367;9651321;9585570;9522124;9219725;9007972;8999895;7869384;7578072;7541394;6689312;6429090;3122506;3067731;2768224;2424340;2004763;1940442;1286667;107703;107702;21145461;21319273;16169070;19615732;19933866;20461718;21038029;20558539;20705733;21325429;21412248;21800051;22354994;21944047;12890214;22145905;21628590;22615763;21139048;21890473;22118674;22787201 1475 C9J0E4;P01040;Q6IB90 AB007774;ABBA01016470;ABBA01016471;AC083798;AK291308;AMYH01013430;AV716538;AV717631;BC010379;BG213814;CH471052;CR456914;CS185576;D88422;NG_027995;NM_005213;X05978 AAA72785;AAH10379;BAA13609;BAA87858;BAF83997;CAA29398;CAG33195;CAJ42757;EAW79489;NP_005204;P01040 Hs.518198 1337853;1709744;1743097;1753819;2160485 D12S390;GDB:252095;L17926;SHGC-108022;SHGC-84683 AREI;STF1;STFA OTTHUMP00000215569;cystatin AS;cystatin-A;cystatin-AS;stefin A;stefin-A APPROVED protein-coding ENSG00000121552 2481 01697 184600;607936 REVIEWED 1319516 CSTF1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.2 54400834 54412989 + 54967427 54979582 + 1580863;6480464;6907045 1741396;10477523;1358884;12226669;19124506;18842000;18676680;15878232;15592455;15489334;12477932;11790298;11780052;11459828;11257228;10669729;8626397;7984242;7590244;21070969;11278247;19170196;19615732;19625176;19692168;20379614;22446626;21139048;21903422;21906983;9002523 1477 A3KFI9;Q05048 AA037145;ABBA01052891;AK293182;AK312774;AL121914;AMYH01012005;BC001011;BC007425;BE958524;BI547689;BT007138;BU189431;BU189971;BU934383;CF272312;CH471077;L02547;NM_001033521;NM_001033522;NM_001324 AAA35691;AAH01011;AAH07425;AAP35802;ABM83633;ABM83643;ABM86885;BAG35638;BAG56724;EAW75548;EAW75549;NP_001028693;NP_001028694;NP_001315;Q05048 Hs.172865 1645330;1767809;2164015 D20S1008;STS-L02547;WI-14647 CstF-50;CstFp50 CF-1 50 kDa subunit;CSTF 50 kDa subunit;OTTHUMP00000031332;OTTHUMP00000031333;OTTHUMP00000031334;cleavage stimulation factor 50 kDa subunit;cleavage stimulation factor subunit 1 APPROVED protein-coding ENSG00000101138 2483 02653 600369 REVIEWED 735434 CSTB cystatin B (stefin B) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). [provided by RefSeq, Jul 2008] 21 21 q22.3 44018259 44020687 - 45193546 45196256 - 704404;1580863;6480464;7240710 6203523;17353931;18951626;18636508;18397316;18281540;17920138;17701471;17003839;16969475;16939620;16342276;16321512;16205844;15955063;15832773;15489334;15483648;15048832;12573263;12477932;12452481;12215838;11697735;11697734;11571333;11514663;11139332;10830953;10721698;9769367;9342192;9090386;9054946;9012407;9007972;8938434;8596935;8104628;8014475;3902020;3261170;3122506;3053245;2347312;1855589;21145461;22287159;14503883;1996959;19913121;20628086;18029348;19342095;19955183;20075068;20078424;20301321;22939629;23205931;22033403;21900206;21757863;12938929;21139048;21890473;17110338;23000965;21628590;22057043;22145905;22863883;22990118;23010349 1476 P04080;Q76LA1 AB083085;ABBA01074137;AF208234;AK312133;AMYH01012282;AP001053;AP001752;BC003370;BC010532;BT007040;BX419549;CD364415;CH471079;CR542148;L03558;NG_011545;NM_000100;U46692 AAA35727;AAA99014;AAF44059;AAH03370;AAH10532;AAP35689;ABM81849;ABM84999;BAA95541;BAC20304;BAG35069;CAG46945;EAX09473;EAX09474;NP_000091;P04080 Hs.695 1693818;1700474;1712360;1712362;1712364;1712366;1712368;1712370;1712372;1728943;2177457 Cstb;G54168;G54169;G54170;G54171;G54172;G54173;G54174;RH103858;SHGC-56470;SHGC-87678 CST6;EPM1;EPM1A;PME;STFB;ULD CPI-B;OTTHUMP00000109464;cystatin b;cystatin-B;liver thiol proteinase inhibitor;stefin B;stefin-B APPROVED protein-coding 2482 03091 254800;601145 REVIEWED 1345230 CSTP1 cystatin pseudogene 1 20 20 20 p11 23972789 23976181 - 23847308 23850906 - 23899408 23902806 - 11879580;1334620;3446578;7896273;8179826;12499242 1480 ABBA01048740;AL121831;AMYH01011783;NG_001020 dJ850N15.1 pseudo ENSG00000228476 2486 INFERRED 1353811 CSTP2 cystatin pseudogene 2 20 20 20 p11.21 23826771 23830081 - 23701496 23704806 - 23753496 23756806 - 8179826;11879580;1334620;7896273 1481 ABBA01017987;AF319563;AL591074;AMYH01011783;NG_029332 pseudo 2487 INFERRED 1351144 CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008] X X q22.1 99962004 99982580 + 100075348 100095924 + 1580863;6480464;6907045 17135252;1741396;10477523;11389848;12226669;18029348;19284619;18272196;16713569;16189514;16169070;15772651;15769465;15489334;14749727;14707147;14702039;12773396;12477932;11598190;11113135;10669729;9885564;9736695;9199325;8945520;8654386;8626397;7984242;7590244;1358884;11257228;21119002;16207706;18688255;19887456;18305108;21832049;22939629;16159877;23112178;22863883;19136632;21813631;20972266;21890473;21906983;9002523;22053931;22174317;22505724 1478 E7EWR4;E9PID8;P33240 ABBA01064125;AK095684;AK300600;AMYH01022723;AW016125;BC017712;BC033135;BT009778;CH471115;EU616679;M85085;NG_015848;NM_001325;Z83819;Z95327 AAA35724;AAH17712;AAH33135;AAP88780;ABM82458;ABM85647;ACF05699;BAG62297;EAX02818;EAX02819;NP_001316;P33240 Hs.132370 2129821;2162873;2169886 DXS8278;G31136;RH1708 CstF-64 CF-1 64 kDa subunit;CSTF 64 kDa subunit;OTTHUMP00000024310;OTTHUMP00000234163;betaCstF-64 variant 2;cleavage stimulation factor 64 kDa subunit;cleavage stimulation factor subunit 2 APPROVED protein-coding ENSG00000101811 2484 02652 600368 REVIEWED 1314208 CSTF3 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 p13 33252825 33329726 - 33062706 33139613 - 33106130 33183037 - 1580863;6480464;6907045 1741396;17353931;7984242;12226669;17081983;16554811;15489334;14749727;12477932;12149458;10669729;7590244;1358884;15782160;11172707;21145461;21119002;19887456;17207965;22939629;18029348;19136632;22446626;21139048;21890473;21906983;9002523;22174317 1479 E9PJ06;E9PLP8;E9PNK2;H0YE74;Q12996 ABBA01060898;AC131263;AK290836;AK294204;AK297371;AL121926;AMYH01003482;BC009792;BC010533;BC059948;BC108319;BG435786;CH471064;NM_001033505;NM_001033506;NM_001326;U15782 AAA61417;AAH09792;AAH10533;AAH59948;AAI08320;ADQ32369;BAF83525;BAG57516;BAG59816;CAC48252;EAW68200;EAW68201;EAW68202;EAW68203;NP_001028677;NP_001028678;NP_001317;Q12996 Hs.44402 1648775;1673041;1737799;1851244;2110343 CSTF3__4648;D11S3403;HSCZRG082;RH48382;STS-N32907 CSTF-77;MGC117398;MGC43001;MGC75122 CF-1 77 kDa subunit;CSTF 77 kDa subunit;OTTHUMP00000232402;OTTHUMP00000232404;OTTHUMP00000232405;OTTHUMP00000232407;cleavage stimulation factor 77 kDa subunit;cleavage stimulation factor subunit 3;cleavage stimulation factor subunit 3, isoform 1 APPROVED protein-coding ENSG00000176102 2485 02651 600367 REVIEWED 1604674 CT45A4 cancer/testis antigen family 45, member A4 X X q26.3 134756363 134764401 - 134928697 134936735 - 15905330 441520 Q8N7B7 AC240441;AK098689;AL590618;AY743712;NM_001017436 AAI48517;AAI53114;AAW66467;BAC05380;CAI41549;NP_001017436;Q8N7B7 Hs.568346;Hs.632281 5111671 AL032555 CT45-4;CT45.4;CT45A6 OTTHUMP00000024079;OTTHUMP00000219438;OTTHUMP00000219439;cancer/testis antigen 45-4/6;cancer/testis antigen 45A4/45A6;cancer/testis antigen CT45-4;cancer/testis antigen family 45 member A4/A6 protein-coding ENSG00000228836 33269 18654 300795 PROVISIONAL 7207308 CSTF3-AS1 CSTF3 antisense RNA 1 (head to head) 11 p13 33183203 33213144 + 12477932;16344560 338739 ABBA01060898;AC131263;AMYH01003482;AMYH01003483;BC043375;DA256284;NR_034027 Hs.423476 miscrna ENSG00000247151 27882 VALIDATED 1320690 CSTF2T cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 10 10 10 q11 46718008 46722117 - 53125252 53129361 - 53455246 53459355 - 6480464;6907045 12408968;16189514;11256614;16713569;15767428;15489334;15302935;12773396;12477932;11230166;11113135;9734811;8889548;8125298;16385451;19779565;22939629;14749727;7590244;21139048;21890473;21906983;22053931;23000965;22505724 23283 Q9H0L4 AB014589;ABBA01052503;AC068062;AK222574;AK314318;AL136747;AMYH01002740;AY130299;BC017185;BC028239;BI962669;BU743103;BX455090;CH471083;NG_029982;NM_015235 AAH28239;AAN05429;ADZ15426;BAA31664;BAD96294;BAG36966;CAB66681;EAW54142;NP_056050;Q9H0L4 Hs.591358 1665921;1708126;2110905 D10S248E;SHGC-81463;WI-15606 CstF-64T;DKFZp434C1013;KIAA0689 CF-1 64 kDa subunit tau;CSTF 64 kDa subunit tau;OTTHUMP00000019616;cleavage stimulation factor 64 kDa subunit tau;cleavage stimulation factor subunit 2 tau;cleavage stimulation factor subunit 2 tau variant;tauCstF-64 protein-coding ENSG00000177613 17086 09900 611968 VALIDATED 2859131 CT45B1P cancer/testis antigen family 45, member B1 pseudogene 5 5 q21 105115855 105116603 - 109175650 109176398 - 15905330 100337646 ABBA01069083;AC008417;AMYH01015545;NG_016473 pseudo 33580 INFERRED 2306137 CT47A1 cancer/testis antigen family 47, member A1 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. This locus is the most telomeric of the cluster.[provided by RefSeq, Sep 2010] X X q24 119944001 119947319 - 120116320 120119638 - 16382448 728096 Q5JQC4 AL670379;NG_027742;NG_027743;NM_001080146 NP_001073615;Q5JQC4 Hs.729566 5113933 RH98429 CT47.1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023957;cancer/testis CT47 family, member 1;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000236371 33282 300780 VALIDATED 1605158 CT45A6 cancer/testis antigen family 45, member A6 X X q26.3 134790881 134798910 - 134963215 134971244 - 15905330;14702039;15772651 541465 Q8N7B7 ABBA01055839;AC240441;AL590618;AY743714;NM_001017438 AAI56862;AAW66469;CAI41551;NP_001017438;Q8N7B7 Hs.676560 CT45-6;CT45.6;CT45A4 OTTHUMP00000024087;OTTHUMP00000221764;OTTHUMP00000221765;cancer/testis antigen 45-4/6;cancer/testis antigen 45A4/45A6;cancer/testis antigen CT45-6;cancer/testis antigen family 45 member A4/A6;cancer/testis antigen family 45, member A6 protein-coding ENSG00000226907 33271 18672 300797 PROVISIONAL 2306145 CT47A10 cancer/testis antigen family 47, member A10 X X q24 119900218 119903562 - 120072555 120075873 - 16382448 728036 Q5JQC4 AL670379;NG_027735;NM_001080137 NP_001073606;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.10;CT47A1;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023955;cancer/testis CT47 family, member 10;cancer/testis antigen 47;cancer/testis antigen 47A protein-coding ENSG00000224089 33291 300789 VALIDATED 5508524 CT47A12 cancer/testis antigen family 47, member A12 X q24 120011344 120066151 - 16382448 100507170 Q5JQC4 AC008162;AL670379;NM_001242922 NP_001229851;Q5JQC4 Hs.729566 5113933 RH98429 CT47;CT47.12;CT47A1;CT47A10;CT47A11;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 cancer/testis CT47 family, member 12;cancer/testis antigen 47;cancer/testis antigen 47A;cancer/testis antigen 47A family member;cancer/testis antigen family 47, member A12 protein-coding ENSG00000226685 33292 PROVISIONAL 2306138 CT47A2 cancer/testis antigen family 47, member A2 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119939141 119942459 - 120111460 120114778 - 16382448 728090 Q5JQC4 AL670379;NG_027741;NG_027742;NM_001080145 NP_001073614;Q5JQC4 Hs.729566 5113933 RH98429 CT47.2;CT47A1;CT47A10;CT47A11;CT47A12;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023958;cancer/testis CT47 family, member 2;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000242362 33283 300781 VALIDATED 1625091 CT45A2 cancer/testis antigen family 45, member A2 This gene represents one of a cluster of six similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. [provided by RefSeq, May 2010] X X q26.3 134693880 134701914 + 134866214 134874268 + 15905330;12477932;20920256 728911 Q5DJT8 AC240441;AL590618;AMYH01023041;AMYH01023042;AMYH01023043;AMYH01023044;AMYH01023045;AY743710;BQ020473;NG_021269;NM_152582 AAW66465;CAI41545;NP_689795;Q5DJT8 Hs.535081;Hs.632281 5111671 AL032555 CT45-2;CT45.2 OTTHUMP00000024081;OTTHUMP00000221762;OTTHUMP00000221763;cancer/testis antigen 45-2;cancer/testis antigen 45A2;cancer/testis antigen CT45;cancer/testis antigen family 45 member A2 APPROVED protein-coding ENSG00000242185 28400 06644 300793 REVIEWED 1605157 CT45A1 cancer/testis antigen family 45, member A1 X X q26.3 134674851 134684654 + 134847185 134856988 + 6480464 19296537;15905330;12477932;20133697 541466 Q5HYN5 ABBA01050106;AC240442;AMYH01023017;AMYH01023018;AMYH01023019;AMYH01023020;AMYH01023021;AMYH01023022;AY743709;BC140913;BX537333;NM_001017417 AAI40914;AAW66464;NP_001017417;Q5HYN5 Hs.460937 CT45;CT45-1;CT45.1 OTTHUMP00000024076;OTTHUMP00000024077;XX-FW88277B6.1;cancer/testis antigen 45-1;cancer/testis antigen 45A1;cancer/testis antigen CT45-1;cancer/testis antigen family 45 member A1 protein-coding ENSG00000232478 33267 18673 300648 PROVISIONAL 2306139 CT47A3 cancer/testis antigen family 47, member A3 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119934263 119937607 - 120106600 120109918 - 16382448 728082 Q5JQC4 AL670379;NG_027740;NG_027741;NM_001080144 NP_001073613;Q5JQC4 Hs.729566 5113933 RH98429 CT47.3;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023959;cancer/testis CT47 family, member 3;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000236126 33284 300782 VALIDATED 2306148 CT47A7 cancer/testis antigen family 47, member A7 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119914817 119918135 - 120087136 120090454 - 16382448 653282 Q5JQC4 AL670379;NG_027736;NG_027738;NM_001080140 NP_001073609;Q5JQC4 Hs.712504 5113933 RH98429 CT47.7;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A8;CT47A9 CT47;OTTHUMP00000023963;cancer/testis CT47 family, member 7;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000228517 33288 300786 VALIDATED 1604675 CT45A3 cancer/testis antigen family 45, member A3 X X X q26.3 135232179 135241955 + 134711154 134719185 + 134883488 134891519 + 15905330;12477932;17207965;16341674 441519 Q8NHU0 AC240441;AL590618;AY743711;BC028711;BC140735;BC140926;BC144437;CH471107;NM_001017435 AAH28711;AAI40736;AAI40927;AAI44438;AAW66466;ADQ32802;CAI41546;EAX11718;EAX11719;NP_001017435;Q8NHU0 Hs.535080 CT45-3;CT45.3;RP13-36C9.1;RP13-36C9.3 OTTHUMP00000024083;OTTHUMP00000221760;OTTHUMP00000221761;cancer/testis antigen 45-3;cancer/testis antigen 45A3;cancer/testis antigen CT45-3;cancer/testis antigen family 45 member A3 protein-coding ENSG00000232417 33268 18653 300794 PROVISIONAL 1316602 CSTL1 cystatin-like 1 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 23493702 23498947 + 23368322 23373567 + 23420322 23425567 + 1580863;6480464 15489334;12477932;11780052;9007972;8179826;7896273;7690606;3202964;20565543 128817 Q9H114 ABBA01016177;AL096677;AMYH01011779;AY707749;BC117396;BC144010;BC144013;BI560738;CH471133;FJ895879;FJ895880;NM_138283 AAI17397;AAU20813;ADR82827;EAX10148;EAX10149;NP_612140;Q9H114 Hs.352134 CTES1;RCET11;dJ322G13.4 OTTHUMP00000030428;cystatin-like 1 APPROVED protein-coding ENSG00000125823 15958 16770 REVIEWED 2306140 CT47A4 cancer/testis antigen family 47, member A4 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119929403 119932747 - 120101740 120105058 - 16382448 728075 Q5JQC4 AL670379;NG_027740;NM_001080143 NP_001073612;Q5JQC4 Hs.729566 5113933 RH98429 CT47.4;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023960;cancer/testis CT47 family, member 4;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000230594 33285 300783 VALIDATED 2306143 CT47A8 cancer/testis antigen family 47, member A8 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119909939 119913283 - 120082276 120085594 - 16382448 728049 Q5JQC4 AL670379;NG_027737;NG_027738;NM_001080139 NP_001073608;Q5JQC4 Hs.729566 5113933 RH98429 CT47.8;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A9 CT47;OTTHUMP00000023964;cancer/testis CT47 family, member 8;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000230347 33289 300787 VALIDATED 2306141 CT47A5 cancer/testis antigen family 47, member A5 X X q24 119924543 119927887 - 120096880 120100198 - 16382448 728072 Q5JQC4 AL670379;NG_027739;NM_001080142 NP_001073611;Q5JQC4 Hs.729566 5113933 RH98429 CT47.5;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023961;cancer/testis CT47 family, member 5;cancer/testis antigen 47;cancer/testis antigen 47A protein-coding ENSG00000237957 33286 300784 VALIDATED 2306142 CT47A6 cancer/testis antigen family 47, member A6 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119919700 119923018 - 120092019 120095337 - 16382448 728062 Q5JQC4 AL670379;NG_027736;NG_027739;NM_001080141 NP_001073610;Q5JQC4 Hs.723061 5113933 RH98429 CT47.6;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023962;cancer/testis CT47 family, member 6;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000226023 33287 300785 VALIDATED 2306144 CT47A9 cancer/testis antigen family 47, member A9 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119905078 119908422 - 120077415 120080733 - 16382448 728042 Q5JQC4 AL670379;NG_027737;NM_001080138 NP_001073607;Q5JQC4 Hs.729566 5113933 RH98429 CT47.9;CT47A1;CT47A10;CT47A11;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8 CT47;OTTHUMP00000023965;cancer/testis CT47 family, member 9;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000226600 33290 300788 VALIDATED 1346058 CTAA1 cataract, anterior polar 1 7240710 1497515 1483 2489 2306151 CT47B1 cancer/testis antigen family 47, member B1 X X q24 119891778 119893807 - 120006451 120009779 - 16382448 643311 P0C2W7 ABBA01036074;ABBA01036075;AC008162;AMYH01022919;NM_001145718 NP_001139190;P0C2W7 Hs.729566 5113933 RH98429 CT47.13;CT47A13 OTTHUMP00000023954;cancer/testis CT47 family, member 13;cancer/testis antigen 47.13;cancer/testis antigen 47B;cancer/testis antigen family 147, member B1 APPROVED protein-coding ENSG00000236446 33293 300790 VALIDATED 7175387 CT49 cancer/testis antigen 49 (non-protein coding) 5 12798873 12805295 + 14612521;14871852;18157007;18791715 404663 ABBA01020623;AC106771;AC106790;AC106794;AC119151;AMYH01014911;AY328030;AY328031;AY328032;AY328033;AY330599;NR_033383 Hs.552273 TAG miscrna 37171 VALIDATED 1604673 CT45A5 cancer/testis antigen family 45, member A5 This gene represents one of a cluster of six similar genes located on the q arm of chromosome X. The genes in this cluster encode members of the cancer/testis (CT) family of antigens, and are distinct from other CT antigens. These antigens are thought to be novel therapeutic targets for human cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, May 2010] X X q26.3 134773630 134781660 - 134945651 134953994 - 15905330;12477932;17207965 441521 Q6NSH3 AC240441;AK292207;AL590618;AY743713;BC070138;BC144429;BC144430;BC144527;BC144528;CH471150;NG_016551;NM_001007551;NM_001172288 AAH70138;AAI44430;AAI44431;AAI44528;AAI44529;AAW66468;ADQ32006;BAF84896;CAI41550;EAW88487;NP_001007552;NP_001165759;Q6NSH3 Hs.535081 5111671 AL032555 CT45-5;CT45.5;CT455;RP13-36C9.6 OTTHUMP00000024085;OTTHUMP00000219440;OTTHUMP00000219441;cancer/testis antigen 45-5;cancer/testis antigen 45A5;cancer/testis antigen CT45-5;cancer/testis antigen family 45 member A5 APPROVED protein-coding 33270 17573 300796 REVIEWED 1343436 CTAA2 cataract, anterior polar 2 7240710 885266 1484 1338613;1339405;7185312 D17S796;D17S849 2490 1605557 CT47A11 cancer/testis antigen family 47, member A11 This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010] X X q24 119895357 119898701 - 120067694 120071012 - 6480464 16382448;12477932 255313 Q5JQC4 AI024600;AL670379;BC029540;DB471077;NG_027735;NM_173571 AAH29540;NP_775842;Q5JQC4 Hs.522775;Hs.715076 5113933 RH98429 CT47.11;CT47A1;CT47A10;CT47A12;CT47A2;CT47A3;CT47A4;CT47A5;CT47A6;CT47A7;CT47A8;CT47A9 CT47;OTTHUMP00000023956;cancer/testis CT47 family, member 11;cancer/testis antigen 47;cancer/testis antigen 47A APPROVED protein-coding ENSG00000226929 27397 06619 300592 VALIDATED 2312706 CT62 cancer/testis antigen 62 15 15 15 q23 48293438 48298694 - 69189637 69194893 - 71402583 71407839 - 12477932;15905330;23400010 196993 H3BQ22;H3BR62;P0C5K7 AA453520;ABBA01038749;ABBA01038750;AC068181;AL080151;AMYH01006749;BC039359;BC048128;DB443655;NM_001102658 NP_001096128;P0C5K7 Hs.646533 1679531 RH92560 cancer/testis antigen 62 protein-coding ENSG00000225362 27286 VALIDATED 7175372 CT60 cancer/testis antigen 60 (non-protein coding) 15 q11.2 21145767 21198633 + 12477932;15905330 348120 ABBA01118703;ABBA01214039;AC037471;AMYH01006254;AMYH01006255;AMYH01006256;AMYH01006257;AMYH01006258;BC047459;NR_040094 Hs.116287 1719739 RH123560 miscrna ENSG00000258710 28003 VALIDATED 7175347 CT64 cancer/testis antigen 64 (non-protein coding) 3 q26.1 162895031 163021089 - 12477932;15905330;7566098 647107 AA382967;ABBA01058773;ABBA01058774;AC112644;AMYH01013617;AMYH01013618;AMYH01013619;BC027488;NR_033945 AAH27488 Hs.408584 2142081 D3S4160 miscrna ENSG00000241369 37197 VALIDATED 5128568 CTAGE13P CTAGE family, member 13, pseudogene 6 6 169405581 169407805 - 168687677 168689901 - 100421638 ABBA01000403;AL606970;AMYH01016868;NG_025892 pseudo 37298 INFERRED 4144906 CTAGE12P CTAGE family, member 12, pseudogene 9 9 9 p21.2 27536490 27538853 - 27598380 27646774 - 27607986 27610965 - 21116278 392298 ABBA01065127;AL355585;AMYH01019297;NG_028957 1334851;1340098;1722191;1728603;1733786;1752865;1854641;2133516;2167941;5094230;7183429;7184931 1158;D9S1130;D9S161;D9S263;D9S964;G54653;G60148;G63593;RH47656;SHGC-106828 pseudo 37297 INFERRED 4144922 CTAGE11P CTAGE family, member 11, pseudogene 13 13 13 q22.2 56709780 56712408 - 74709890 74712555 - 75811889 75814517 - 647288 ABBA01021640;AL133018;AL162571;AMYH01005213;NR_027466 Hs.567920 1727111;1854569 G27651;G62959 DKFZp434F0327;KIAA0603 pseudo ENSG00000214249 37293 VALIDATED 4144921 CTAGE14P CTAGE family, member 14, pseudogene 2 2 2 q24.3 162178899 162181418 - 168278496 168295023 - 168570056 168572575 - 23251661 401018 ABBA01004947;AC017070;AMYH01011237;NG_021536 pseudo 37299 INFERRED 5132828 CTAGE16P CTAGE family, member 16, pseudogene 13 13 13 q21.1 40060653 40063183 + 57919823 58003094 + 59102749 59105279 + 341689 ABBA01037007;AL161423;AL162716;AMYH01005150;CH471124;NG_022898 EAW52063 pseudo 41967 INFERRED 1343019 CTAGE3P CTAGE family, member 3, pseudogene 13 13 13 q14.3 33530595 33533334 - 51379953 51382816 - 52481956 52484889 - 1580863;6480464 12839582;11149944 220112 Q8IX95 ABBA01051051;AF338231;AL162377;AMYH01005116;NG_006514 AAN77608;Q8IX95 Hs.623891 CTAGE-3;CTAGE3 APPROVED pseudo 24348 608857 INFERRED 1353571 CTAG1B cancer/testis antigen 1B The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012] X X q28 153499059 153500714 - 153845865 153847522 - 6480464 17023585;16951317;16751374;16596224;16140944;16114059;15772651;15671442;15521719;15475443;15252201;15240519;15069548;15026363;14583496;14559844;14522938;14503968;12889868;12853579;12477932;12452034;12445278;12209997;12138174;12065688;11782380;11709543;11397121;11351307;11256614;11120859;10901371;10523621;9759882;19212631;19155470;19030781;18982744;18923710;18396787;17640060;17625806;17488334;17208940;17137291;9626360;9605863;9050879;19380770;19531622;19728336;19795170;20044626;20053942;20368442;21131422;20591578;20733200;21247062;23645764;21906983;21556122;21900253;21933959;22529253;22936067;22323448;22388761 1485 O95146;P78358 ABBA01029065;AC244107;AF038567;AF277315;AJ003149;AJ275977;AJ275978;AMYH01023318;BC130362;BC130364;CH471172;NM_001327;U87459 AAB49693;AAD05202;AAD05203;AAI30363;AAI30365;AAL27014;CAA05908;CAB76943;CAB76944;CAB76945;EAW72674;NP_001318;P78358 Hs.534310;Hs.745351 1340490;1804764;1805270;1807692;1815802;1816748;1817924;1818426;1819842;1820910;1824182;1824716;1825126;1825834;1826158;1831558;1836822;1837952;1839304;1839346;1841494;1841760;1845142;1846472;2038038;2038040;2038042;2038044;2038046;2038048;2038050;2038052;2038054;2038056;2038058;2038060;2038062;2038064;2038066;2038068;2038070;2038072;2038074;2038076;2038078;2038080;2038082;2038084;2038086;2038088;2038090;2038092;2038094;2038096;2038098;2038100;2038102;2038104;2038106;2038108;2038110;2038112;2038114;2038116;2038118;2038120;2038122;2038124;2038126;2038128;2038130;2038132;2038134;2038136;2038138;2038140;2038142;2038144;2038146;2038148;2038150;2038152;2038154;2038156;2038158;2038160;2038162;2038164;2038166;2038168;2038170;2038172;2038174;2038176;2038178;2038180;2038182;2038184;2038186;2038188;2038190;2038192;2038194;2038196;2038198;2038200;2038202;2038204;2038206;2038208;2038210;2038212;2102704;2102706;2102708;2102710;2102712;2102714;2102716;2102718;2102720;2102722;2102724;2102726;2102728;2102730;2102732;2102734;2102736 DXS1073;ECD03314;ECD03580;ECD04818;ECD08940;ECD09418;ECD10017;ECD10271;ECD10991;ECD11531;ECD13187;ECD13456;ECD13664;ECD14025;ECD14189;ECD16916;ECD19575;ECD20147;ECD20832;ECD20854;ECD21943;ECD22079;ECD23788;ECD24456;REN90033;REN90034;REN90035;REN90036;REN90037;REN90038;REN90039;REN90040;REN90041;REN90042;REN90043;REN90044;REN90045;REN90046;REN90047;REN90048;REN90049;REN90050;REN90051;REN90052;REN90053;REN90054;REN90055;REN90056;REN90057;REN90058;REN90059;REN90060;REN90061;REN90062;REN90063;REN90064;REN90065;REN90066;REN90067;REN90068;REN90069;REN90070;REN90071;REN90072;REN90073;REN90074;REN90075;REN90076;REN90077;REN90078;REN90079;REN90080;REN90081;REN90082;REN90083;REN90084;REN90085;REN90086;REN90087;REN90088;REN90089;REN90090;REN90091;REN90092;REN90093;REN90094;REN90095;REN90096;REN90097;REN90098;REN90099;REN90100;REN90101;REN90102;REN90103;REN90104;REN90105;REN90106;REN90107;REN90108;REN90109;REN90110;REN90111;REN90113;REN90115;REN90116;REN90118;REN90119;REN90120;REN90122;REN90123;REN90124;stSG604162;stSG604166;stSG604167;stSG604168;stSG604169;stSG604170;stSG604171;stSG604172;stSG604173;stSG604174;stSG604175;stSG604176;stSG604177;stSG604178;stSG604180;stSG604181;stSG604182 CT6.1;CTAG;CTAG1;CTAG1A;ESO1;LAGE-2;LAGE2B;NY-ESO-1 New York esophageal squamous cell carcinoma 1;OTTHUMP00000026025;autoimmunogenic cancer/testis antigen NY-ESO-1;cancer antigen 3;cancer/testis antigen 1;cancer/testis antigen 6.1;l antigen family member 2 APPROVED protein-coding ENSG00000184033 2491 02151 300156 REVIEWED 1344197 CTAG1A cancer/testis antigen 1A CTAG1A is an identical copy of the CTAG1B gene (MIM 300156) (Aradhya et al., 2001 [PubMed 11709543]).[supplied by OMIM, Mar 2008] X X q28 153466610 153468269 + 153813418 153815075 + 6480464 17137291;16596224;15772651;15489334;12477932;12445278;12065688;11709543;11397121;11351307;10523621;9759882;9626360;9605863;9050879;11256614 246100 P78358 ABBA01029064;AC244090;AF038567;AF277315;AJ003149;AJ275978;AMYH01023318;AX024691;AX024693;BC130362;BC130364;NM_139250;U87459 AAB49693;AAD05202;AAD05203;AAI30363;AAI30365;AAI60040;AAL27013;CAA05908;CAB76945;CAC08999;CAC09000;NP_640343;P78358 Hs.534310;Hs.741688 1340490;1804764;1805270;1807692;1815802;1816748;1817924;1818426;1819842;1820910;1824182;1824716;1825126;1825834;1826158;1831558;1836822;1837952;1839304;1839346;1841494;1841760;1845142;1846472;2038038;2038040;2038042;2038044;2038046;2038048;2038050;2038052;2038054;2038056;2038058;2038060;2038062;2038064;2038066;2038068;2038070;2038072;2038074;2038076;2038078;2038080;2038082;2038084;2038086;2038088;2038090;2038092;2038094;2038096;2038098;2038100;2038102;2038104;2038106;2038108;2038110;2038112;2038114;2038116;2038118;2038120;2038122;2038124;2038126;2038128;2038130;2038132;2038134;2038136;2038138;2038140;2038142;2038144;2038146;2038148;2038150;2038152;2038154;2038156;2038158;2038160;2038162;2038164;2038166;2038168;2038170;2038172;2038174;2038176;2038178;2038180;2038182;2038184;2038186;2038188;2038190;2038192;2038194;2038196;2038198;2038200;2038202;2038204;2038206;2038208;2038210;2038212;2102704;2102706;2102708;2102710;2102712;2102714;2102716;2102718;2102720;2102722;2102724;2102726;2102728;2102730;2102732;2102734;2102736 DXS1073;ECD03314;ECD03580;ECD04818;ECD08940;ECD09418;ECD10017;ECD10271;ECD10991;ECD11531;ECD13187;ECD13456;ECD13664;ECD14025;ECD14189;ECD16916;ECD19575;ECD20147;ECD20832;ECD20854;ECD21943;ECD22079;ECD23788;ECD24456;REN90033;REN90034;REN90035;REN90036;REN90037;REN90038;REN90039;REN90040;REN90041;REN90042;REN90043;REN90044;REN90045;REN90046;REN90047;REN90048;REN90049;REN90050;REN90051;REN90052;REN90053;REN90054;REN90055;REN90056;REN90057;REN90058;REN90059;REN90060;REN90061;REN90062;REN90063;REN90064;REN90065;REN90066;REN90067;REN90068;REN90069;REN90070;REN90071;REN90072;REN90073;REN90074;REN90075;REN90076;REN90077;REN90078;REN90079;REN90080;REN90081;REN90082;REN90083;REN90084;REN90085;REN90086;REN90087;REN90088;REN90089;REN90090;REN90091;REN90092;REN90093;REN90094;REN90095;REN90096;REN90097;REN90098;REN90099;REN90100;REN90101;REN90102;REN90103;REN90104;REN90105;REN90106;REN90107;REN90108;REN90109;REN90110;REN90111;REN90113;REN90115;REN90116;REN90118;REN90119;REN90120;REN90122;REN90123;REN90124;stSG604162;stSG604166;stSG604167;stSG604168;stSG604169;stSG604170;stSG604171;stSG604172;stSG604173;stSG604174;stSG604175;stSG604176;stSG604177;stSG604178;stSG604180;stSG604181;stSG604182 CTAG1B;ESO1;LAGE2A CT6.1;LAGE-2;OTTHUMP00000026042;autoimmunogenic cancer/testis antigen NY-ESO-1;cancer/testis antigen 1;cancer/testis antigen 1-A;cancer/testis antigen 6.1;l antigen family member 2 APPROVED protein-coding ENSG00000183678 24198 06607 300657 PROVISIONAL 1349885 CTAGE1 cutaneous T-cell lymphoma-associated antigen 1 18 18 18 p11.2 16800729 16805043 - 18247562 18251876 - 19993564 19997878 - 1580863;6480464 12839582;12477932;11181995;11149944;20694014;22318606;20467438;21890473;22752306 64693 Q8NEG8;Q96RT6;Q9HC47 ABBA01022660;AC099849;AF177229;AF273058;AMYH01008881;BC031065;BC070128;BC132871;CH471088;EF444969;NM_172241 AAG23843;AAH31065;AAI32872;AAK63198;ACA05971;ADR83256;EAX01138;NP_758441;Q96RT6 Hs.406709 1679698 RH92040 CT21.1;CT21.2;CTAGE;CTAGE-1;CTAGE-2 OTTHUMP00000231346;cTAGE family member 2;cancer/testis antigen 21.2;cancer/testis antigen family 21, member 1;cancer/testis antigen family 21, member 2;cutaneous T-cell lymphoma-associated antigen 2;protein cTAGE-2 protein-coding ENSG00000212710 24346 16395 608856 VALIDATED 1344677 CTAGE7 CTAGE family, member 7 414233 25111 1344888 CTAG2 cancer/testis antigen 2 This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID 10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X q28 153533445 153535036 - 153880246 153881853 - 1580863;6480464 18237105;21131422;11256614;19212631;17899192;16446548;16381901;15540228;15489336;15489334;15067093;15061963;14559844;14522938;12538712;12477932;12445278;11709543;11120859;11076863;10399963;9626360;9618514;15765097;21247062;21906983;22384167;21963094;23446634 30848 O75638 ABBA01029065;ABBA01029066;AC244107;AF277315;AJ012833;AJ012834;AJ012835;AJ223040;AJ223041;AJ223093;AMYH01023318;AX024685;AX024687;AX024689;AY679088;AY679089;BC002833;BC113998;BC114933;BC128045;CH471172;FB510852;FB510854;NG_021275;NM_020994;NM_172377 AAH02833;AAI13999;AAI14934;AAI28046;AAL27015;AAV98584;AAV98585;CAA10193;CAA10194;CAA10195;CAA10196;CAA10197;CAA11043;CAA11044;CAA11116;CAA11117;CAC08996;CAC08997;CAC08998;CAL37904;CAL38372;CAL38572;CAL38714;CAV32975;CAV32977;EAW72668;EAW72669;NP_066274;NP_758965;O75638 Hs.713312;Hs.87225 1813014;1814762;1819572;2038234;2038236;2038238;2038240;2038242;2038244;2038246;2038248;2038250;2038252;2038254;2102776 ECD07524;ECD08412;ECD10853;REN90136;REN90137;REN90138;REN90139;REN90140;REN90141;REN90142;REN90143;REN90144;REN90145;REN90146;stSG604213 CAMEL;CT2;CT6.2;CT6.2a;CT6.2b;ESO2;LAGE-1;LAGE-2b;LAGE2B;MGC138724;MGC3803 CTL-recognized antigen on melanoma;LAGE-1a protein;OTTHUMP00000026043;OTTHUMP00000026044;autoimmunogenic cancer/testis antigen NY-ESO-2;cancer/testis antigen 2;cancer/testis antigen 6.2;cancer/testis antigen family 6, member 2a;cancer/testis antigen family 6, member 2b;l antigen family member 1 APPROVED protein-coding ENSG00000126890 2492 02318 300396 REVIEWED 7246797 CTAGE8 CTAGE family, member 8 7 q35 143963767 143966392 - 12853948;15146197;9847074 100142659 P0CG41 AC004889;AI274481;AK292236;CB529778;CN429509;NM_001278507 BAF84925;NP_001265436;P0CG41 Hs.661442;Hs.720693 1854569 G27651 CTAGE family member;CTAGE family, member 4 pseudogene;Cutaneous T-cell lymphoma-associated antigen 8;Protein cTAGE-8;cTAGE family member 8 protein-coding 37294 VALIDATED 1342835 CTAGEP CTAGE family pseudogene 10 10 10 q26.3 125577274 125580343 + 131794263 131797092 + 131904029 131907098 + 737633 12477932 119437 AL139123;BC036527;NG_006973 Hs.620802 MGC33437 pseudo 29651 4144904 CTAGE10P CTAGE family, member 10, pseudogene 13 13 13 q14.2 31519272 31522243 + 49362650 49363335 + 50464545 50467516 + 10737800;12477932;21890473 220429 ABBA01051027;AL136123;AMYH01005111;BC030655;BI463404;NR_003268 Hs.448219 pseudo ENSG00000181358 37288 VALIDATED 1605478 CTAGE15 CTAGE family, member 15 7 7 q35 142979012 142981366 + 143268890 143271244 + 12477932;21139048 441294 A4D2H0 AACC02000107;ABBA01133671;AC073264;AMYH01018025;AMYH01018026;AMYH01018027;AMYH01018028;AMYH01018029;AMYH01018030;BC146818;CH236959;NM_001008747 A4D2H0;AAI46819;AAI50315;EAL23792;NP_001008747 Hs.450233 1854569 G27651 CTAGE15P;MGC167090 CTAGE family, member 15, pseudogene;CTAGE6-like;cTAGE family member 15;cutaneous T-cell lymphoma-associated antigen 9;hypothetical protein LOC441294;protein cTAGE-15;protein cTAGE-9 APPROVED protein-coding ENSG00000271079 37295 17404 VALIDATED 1347858 CTAGE6 CTAGE family, member 6 7 7 7 q35 138576640 138578081 + 143083115 143085776 - 143452182 143454843 - 737633;1580863 12477932 15489334 340307 Q86UF2 AACC02000107;ABBA01000150;AC106862;AMYH01018051;BC043153;BC101323;BC101324;BC110410;CH236959;NM_178561 AAI01324;AAI01325;NP_848656;Q86UF2 Hs.676333 CTAGE6P;MGC41943 CTAGE family, member 6, pseudogene;cTAGE family member 6;cutaneous T-cell lymphoma-associated antigen 6;protein cTAGE-6;putative protein cTAGE-6 APPROVED protein-coding ENSG00000271321 28644 VALIDATED 2902962 CTBP2P1 C-terminal binding protein 2 pseudogene 1 Y Y q12 57410678 57411805 + 59001390 59002317 + 12815422;9847074 352905 AC025226;NG_002808 pseudo 23940 INFERRED 7241773 CTBP2P3 C-terminal binding protein 2 pseudogene 3 220147 ABBA01056178;AC010928;AMYH01009042;NG_022494 pseudo 45195 INFERRED 7241776 CTBP2P4 C-terminal binding protein 2 pseudogene 4 642909 ABBA01069209;AC022142;AMYH01015493;NG_021892 pseudo 45196 INFERRED 7241611 CTBP2P5 C-terminal binding protein 2 pseudogene 5 646936 ABBA01075199;AC007189;AMYH01010339;NG_021499 1725373 RH119004 pseudo 45197 INFERRED 1342761 CTAGE4 CTAGE family, member 4 7 7 7 q35 138513864 138516489 + 143509861 143515705 + 143880548 143883173 + 6480464 17207965;12853948;12839582;12477932;11149944;9847074 100128553 Q8IX94 AC004889;AF338232;AMYH01018074;BE272325;DB515636;DB727739;EL733901;NM_198495 AAN77609;NP_940897;Q8IX94 Hs.645204;Hs.720693 1854569 G27651 cTAGE-4 OTTHUMP00000212564;cTAGE family member 4;cutaneous T-cell lymphoma-associated antigen 4;cutaneous-T-cell-lymphoma-specific tumor antigen 4;protein cTAGE-4 protein-coding ENSG00000225932 24772 608910 VALIDATED 7241614 CTBP2P6 C-terminal binding protein 2 pseudogene 6 120449 ABBA01060780;AC023085;AMYH01003518;NG_021815 pseudo 45198 INFERRED 7241731 CTBP2P7 C-terminal binding protein 2 pseudogene 7 401914 ABBA01016205;AC092295;AMYH01009750;NG_021748 pseudo 45199 INFERRED 2816814 CTAGE9 CTAGE family, member 9 6 6 6 q23.2 132776224 132778800 - 132070491 132074384 - 132029581 132032157 - 11181995;12477932;9847074;12839582;12853948 643854 A4FU28 ABBA01025889;AC005587;AL135904;AMYH01016674;BC101322;CH471051;NM_001145659 A4FU28;AAD05194;AAI01323;CAB99213;EAW48047;NP_001139131 Hs.632613 CTAGE family, member 4-like;CTAGE family, member 9;OTTHUMP00000045615;cTAGE family member 9;cutaneous T-cell lymphoma-associated antigen 9;protein cTAGE-9 protein-coding ENSG00000236761 37275 PROVISIONAL 1351227 CTBS chitobiase, di-N-acetyl- Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010] 1 1 p22 84792810 84812686 - 85018804 85040163 - 728411;1580863;6480464 1549114 16794344;12477932;11907625;10336991;7606925;2751306;1527079;15252009;2531691;19322201 1486 F6X5H7;Q01459;Q8TC97 ABBA01045653;AF085706;AI339601;AK075423;AK298703;AK314640;AL359762;AMYH01000752;BC024007;BC065191;BC096752;BC126333;BC126335;CH471097;M95767;NM_004388 AAA35684;AAC35852;AAH24007;AAH96752;AAI26334;AAI26336;BAG37202;BAG52135;BAG60860;EAW73230;EAW73231;EAW73232;EAW73233;NP_004379;Q01459 Hs.513557 1661556;1767885;2118156;2164951;2169361;2175015;2219062 CTBS__4649;RH17760;RH70725;SHGC-12406;SHGC-75066;SHGC-75075;WI-11830 CTB OTTHUMP00000011569;OTTHUMP00000011570;di-N-acetylchitobiase APPROVED protein-coding ENSG00000117151 2496 02927 600873 VALIDATED 1604255 CTBP1-AS2 CTBP1 antisense RNA 2 (head to head) 4 4 4 p16.3 1176244 1179811 + 1234177 1236616 + 1243228 1246795 + 6480464 16189514;14702039;12477932;22456796 92070 Q96CW7 ABBA01019361;AC092535;AI523678;AK056133;AK125775;AL390154;AMYH01013854;BC013775;BC111466;BC120947;BC120948;CB070110;NR_033339 AAH13775;AAI11467;AAI20948;AAI20949;AAY40990;BAC86283 Hs.561314 1644319;1649309;1847978 G41961;SHGC-59167;WI-22145 C4orf42;MGC149426;MGC149427;MGC21675 APPROVED miscrna 28307 14480 VALIDATED 1352600 CTD Coats disease 7240710 1283 2497 1351524 CTAGE5 CTAGE family, member 5 The protein encoded by this gene is a tumor-associated antigen found in cutaneous T-cell lymphoma and several other cancers. Autoantibodies against the encoded protein have been found in some cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 14 q13.3 19599121 19684807 + 38804227 38890148 + 39734476 39820397 + 1580863;6480464 9356211;17474147;18029348;17081983;16344560;15489334;14702039;12839582;12477932;11803467;11472066;11149944;8889548;20838928;21525241;23054591;15174051;20467438;21890473;21988832 4253 G3V3C4;G3V5K6;Q4G155;Q59FD2;Q86TF6 AA731729;AB209528;ABBA01061552;ABBA01061553;AF338233;AF338234;AI521895;AK055791;AK091252;AK298935;AK315254;AL132639;AL832233;AL833415;AMYH01005683;AMYH01005684;AMYH01005685;AW451965;BC029513;BC039017;BC051363;BC064355;BM929588;BQ424957;BX367676;BX640994;BX648014;CD102996;CD512382;CH471078;CV809109;DA072098;NG_030349;NM_001247988;NM_001247989;NM_001247990;NM_005930;NM_203354;NM_203355;NM_203356;U73682;U94780 AAB86589;AAB86593;AAH29513;AAH39017;AAH51363;AAH64355;AAN77610;AAN77611;ADR82743;BAD92765;BAG52318;BAG61038;CAE45997;EAW65804;EAW65805;EAW65806;EAW65807;EAW65808;EAW65809;EAW65810;EAW65811;EAW65812;EAW65813;EAW65814;EAW65815;EAW65816;NP_001234917;NP_001234918;NP_001234919;NP_005921;NP_976229;NP_976230;NP_976231;O15320 Hs.509200;Hs.540038;Hs.741763 1687546;1854569;2135278;2183516;5125049 G27651;G36136;RH80731;RH93939;STS-T59353 MEA6;MGEA;MGEA11;MGEA6 OTTHUMP00000178900;OTTHUMP00000178901;OTTHUMP00000178902;OTTHUMP00000178903;OTTHUMP00000244235;OTTHUMP00000244236;OTTHUMP00000244237;OTTHUMP00000244313;cTAGE family member 5;cutaneous T-cell lymphoma-associated antigen 5;meningioma expressed antigen 6 (coiled-coil proline-rich);meningioma-expressed antigen 6/11;protein cTAGE-5 APPROVED protein-coding ENSG00000150527;ENSG00000258941 7057 03680 602132 REVIEWED 1604790 CTC1 CTS telomere maintenance complex component 1 This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] 17 17 17 p13.1 8156583 8180276 - 8070918 8092138 - 8128139 8151413 - 6480464 19119139;16344560;14702039;22658654;12477932;10737800;8125298;22532422;22763445;19854130;19854131;22863775;20360068;22267198;22387016;21906983;21963094;23001564 80169 J3KSR1;J3KSZ1;J3QKT7;Q2NKJ3 ABBA01054904;ABBA01054905;ABBA01054906;AC135178;AK025823;AK091077;AK225375;AK310636;AL831955;AMYH01008088;BC026057;BC110373;BC111783;BF798182;BU631459;BX406692;CH471108;DA313518;DB126489;DQ451688;FJ790670;NG_032148;NM_025099;NR_046431 AAH26057;AAI10374;AAI11784;ABE02809;ACY71127;BAB15247;BAG52278;CAD38600;EAW90070;EAW90071;NP_079375;Q2NKJ3 Hs.156055 1690087;2118689;2123766;2145580 D17S1556;D17S1773;G18003;RH18359 AAF-132;AAF132;C17orf68;CRMCC;FLJ22170;MGC133331;tmp494178 CST complex subunit CTC1;HBV DNAPTP1-transactivated protein B;alpha accessory factor 132;conserved telomere capping protein 1;conserved telomere maintenance component 1;tmp494178 APPROVED protein-coding 26169 07980 612199;613129 REVIEWED 732729 CTBP1 C-terminal binding protein 1 This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 4 4 p16 1195228 1232908 - 1205228 1242908 - 1580863;6480464;6484113;6907045 15708980;15705784;15592428;15542832;15525529;15489334;15188402;15060175;14701752;14645520;14567915;12829790;12769861;12711682;12700765;12679040;12565893;12477932;12444977;12419229;12372828;12052894;11864595;11739372;11590170;11583618;11509661;11373277;11328817;11313276;11022042;10995736;10766745;10764811;10567582;10438528;10369679;10359772;10196224;9858600;9650586;9535825;9479502;8440238;16609867;7479821;19450512;19216735;19188451;19162039;19136938;19103759;18765668;18524818;18354494;18323776;18212045;18184656;18086895;17967884;17662696;17538025;17431394;17157814;17028196;16840720;16804902;16762039;16740659;16547505;16481748;16292346;16287852;16122695;16061479;16036112;15834423;15831101;18374649;11568182;9824164;12714599;11959865;12867035;11462050;15897867;18029348;19505873;19506021;19690890;19744932;19851296;20198315;20237496;20361981;20800578;17213307;19242095;20835243;16510875;16702210;16787403;17130829;18625718;19486893;19754958;20211142;20818429;12082639;12535528;12878208;16079794;16140033;20964627;21665989;21900206;21903422;17379597;17546044;20547759;22990118;21139048;21532573;21890473;21906983;23291169;23824909;21681822;21044950;19322201;22301782;16713569;19751731;21963094;21988832;23000965;23097625;23385593;17972916;23303449;23752268;22505724 1487 D6RAX2;E7EPF8;E7ESU7;E7EUB3;E9PGB1;H0Y8U5;H0Y8W7;H0Y913;H0Y9M9;Q13363 ABBA01019360;AC092535;AF091555;AL137653;AMYH01013853;BC011655;BC053320;BC064333;BC072021;BC098400;BM989059;BU553431;CH471131;NM_001012614;NM_001328;U37408 AAC62822;AAD14597;AAH11655;AAH53320;AAH72021;AAH98400;AAY40989;ABM82844;ABM86028;CAB70861;EAW82599;EAW82600;EAW82601;EAW82602;NP_001012632;NP_001319;Q13363 Hs.208597 1645295;1730966;1764835;1769862;1785162;5110712;7184758 D4S115;RH18046;RH41962;SHGC-148396;SHGC-156143;SHGC-35677 BARS;MGC104684 C-terminal-binding protein 1;OTTHUMP00000113364;OTTHUMP00000217684;OTTHUMP00000217687;brefeldin A-ribosylated substrate APPROVED protein-coding ENSG00000159692 2494 04015 602618 REVIEWED 68535 CTBP2 C-terminal binding protein 2 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. [provided by RefSeq, Jul 2008] 10 10 q26.13 126666408 126839614 - 126676418 126849624 - 1580863;6480464;6907045 9479502;19423541;19366831;19318432;19240061;18794092;18264096;18184656;17546044;17023432;16356938;16189514;15542832;15146197;15060175;12711682;12556451;12477932;11864595;11504872;11163272;10764811;10756197;10567582;10438528;9858600;9724649;7479821;10359772;12867035;15489334;16508011;20564319;20690139;19798104;20363750;20523059;12714599;16385451;19486893;19506021;19549807;19668232;19754958;19866473;19900942;19902474;20379614;20450899;20460480;20717903;20878950;21071540;12535528;16702210;16787403;17967884;21057548;20964627;17635584;21832049;22863883;22990118;21315774;20547755;20547759;12700765;21665989;21903422;21139048;21532573;21906983;16713569;16762039;11940669;15231748;21890473;21963094;21988832;23000965;23393140;23410750;10801815;22505724;22797925;21334379 1488 P56545;Q5SQP8 ABBA01034161;AF016507;AF222711;AK290390;AL157888;AL596261;AL731571;AL833398;AMYH01003159;AMYH01003160;AMYH01003161;BC002486;BC037900;BC047018;BC052276;BC072020;BQ933925;BT007012;CH471066;CN353451;DQ250324;NM_001083914;NM_001329;NM_022802 AAC39603;AAG45951;AAH02486;AAH37900;AAH47018;AAH52276;AAH72020;AAP35658;ABB82238;BAF83079;CAH10590;EAW49247;EAW49249;EAW49250;NP_001077383;NP_001320;NP_073713;P56545 Hs.501345 1651060;1686690;1724611;2113104;2113106;2119183;2132095;5113787 D10S2461;D10S2462;D20S789;RH121303;RH36796;RH79776;SGC34798;STS-W86518 C-terminal-binding protein 2;OTTHUMP00000020699;OTTHUMP00000020700;OTTHUMP00000020701;OTTHUMP00000235908;OTTHUMP00000235909;OTTHUMP00000235910;ribeye APPROVED protein-coding ENSG00000175029 2495 04016 602619 REVIEWED 1320917 CTDNEP1 CTD nuclear envelope phosphatase 1 17 17 17 p13 7171550 7179904 - 7087882 7095983 - 7146906 7155259 - 1580863;6480464 12477932;17420445;17141153;12083771;17157258;21413788;22134922;21139048 23399 I3L0X6;I3L1D9;I3L2R5;I3L3K5;I3L4B2;I3L4W0;O95476 ABBA01054856;AC003688;AC120057;AJ011916;AMYH01008075;AY364239;BC009295;CH471108;NM_001143775;NM_015343 AAH09295;AAQ76798;ABM84056;ABM87408;CAA09865;EAW90233;EAW90235;EAW90236;NP_001137247;NP_056158;O95476 Hs.741244 1678137 RH79691 DULLARD;HSA011916;NET56 C-terminal domain nuclear envelope phosphatase 1;CTD nuclear envelope phosphatase 1;OTTHUMP00000128375;dullard homolog;serine/threonine-protein phosphatase dullard APPROVED protein-coding ENSG00000175826 19085 16845 610684 VALIDATED 1345284 CTDSPL CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like 3 3 p21.3 37878673 38000964 + 37903669 38025960 + 1580863;6480464;6484113 19478941;19140316;19047128;19016758;17903305;17085434;15051889;12721286;12543795;9179494;19004823;15009212;12052871;11884399;11572868;11278802;11145967;10617616;20412120;20193080;19885927;20379614;14645848;21643017;21139048;19322201 10217 F8WED2;H7C2B9;H7C2S4;H7C353;O15194 ABBA01024840;ABBA01024841;AC093415;AC105752;AI143812;AI192993;AJ575644;AJ575645;AMYH01013088;AY279532;AY364238;CH471055;D88153;NM_001008392;NM_005808 AAI66643;AAP34400;AAQ76797;BAA21667;CAE11804;CAE11805;EAW64502;EAW64503;EAW64504;EAW64505;NP_001008393;NP_005799;O15194 Hs.475963 1645272;1661327;1663061;1664241;1674636;1707652;1760267;1778877;2112648;2112666;2128870;2132876;2137284;2140268;2162367;2178636;2217212;5019817;5093810 A009X11;A009X46;CTDSPL_3523;D3S3077;D3S4237;D3S4385;D3S4393;G29265;G32937;G32964;RH12233;RH16286;RH36200;RH44586;SHGC-132579;SHGC-33953;SHGC-34330;SHGC-36278;SHGC-81988 C3orf8;HYA22;PSR1;RBSP3;SCP3 CTD small phosphatase-like protein;CTDSP-like;NIF-like protein;NLI-interacting factor 1;OTTHUMP00000208947;OTTHUMP00000208948;RB protein serine phosphatase from chromosome 3;carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3;nuclear LIM interactor-interacting factor 1;small C-terminal domain phosphatase 3;small CTD phosphatase 3 protein-coding ENSG00000144677 16890 608592 VALIDATED 733105 CTCF CCCTC-binding factor (zinc finger protein) This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 16 16 q21-q22.3 66153965 66230589 + 67596310 67673088 + 1580863;6480464 8649389;10734189;16949368;9591631;9407128;19369356;19322193;19247430;19158269;19074263;19060911;19056695;19008940;18923423;18654629;18604514;18550811;18347100;18237772;18235444;18207574;18021171;17827499;17583694;17382889;17267480;17081983;16989720;16731911;16230345;16140944;16107875;15958555;21880767;22354964;21550623;19505873;15941718;15731119;15670593;15489334;15471867;15454938;15361875;15304340;15096508;15084242;14759373;14716017;14702039;14645543;14645507;14503807;12960026;12878173;12787766;12524457;12477932;12461525;12417987;12203779;12191639;12099698;12075007;12054881;11997516;11971967;11827452;11782357;11748221;11743158;11525835;21884934;22487828;10906122;10839547;10839546;10625678;10458613;15669143;21145461;22422629;20584980;20733034;20196073;15229244;16595548;16815976;17603073;18413740;18662993;19450526;19513555;19568426;19584098;19644448;19737964;19818655;19956589;20038529;20051228;20101205;20110362;20133600;20478995;20966046;16344560;20610384;17210645;17218270;19922652;20877461;20404925;20427289;21663659;18219272;22615834;22879976;22939629;21536749;21444719;21325284;22286186;21296871;22247490;21970734;21964334;22072770;20360068;21912613;19471022;21139048;21693764;21890473;22142239;22538856;22347474;22586326;23192870;22952237;22791747;23000965;22944692;23204437 10664 P49711 AA814313;AB209793;ABBA01025441;ABBA01025442;ABBA01025443;ABBA01025444;ABBA01025445;ABBA01025446;ABBA01025447;ABBA01025448;AC009095;AC027682;AF145477;AI753629;AK093395;AK314804;AMYH01007748;AMYH01007749;AMYH01007750;BC014267;BT009915;CH471092;CQ834784;DB229066;NM_001191022;NM_006565;U25435 AAB07788;AAF31318;AAH14267;AAP88917;ABM86760;ABW03820;BAD93030;BAG52706;CAH05607;EAW83142;EAW83143;EAW83144;EAW83145;EAW83146;NP_001177951;NP_006556;P49711 Hs.368367 1335231;1341713;1646684;1657321;1667265;1682738;1728945;1783530;2125221;2217210;5105887 CTCF_3772;Ctcf;D16S3085;D16S3107;RH68791;RH80821;SHGC-151259;SHGC-152529;SHGC-3332;SHGC-60657;WI-21064 11 zinc finger transcriptional repressor;11-zinc finger protein;CTCFL paralog;OTTHUMP00000174843;OTTHUMP00000197610;transcriptional repressor CTCF APPROVED protein-coding ENSG00000102974 13723 05005 604167 REVIEWED 1313529 CTCFL CCCTC-binding factor (zinc finger protein)-like CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 20 20 q13.31 55505630 55533560 - 56071021 56100708 - 1580863;6480464 18765639;18632606;18467432;18413740;18195709;18095639;17962299;17957795;17428394;17363524;17062669;16854382;16140944;12477932;12191639;12011441;11780052;14578343;20339536;17260018;15489334;18029348;19675668;20438700;20305816;17048991;21034534;20649179;21079786;22724006;21325284;22168535;21296871;21558405;21874228;21495859;21811597;22223638;22792300;23237599;22676270;23251661;23300278 140690 A6XGM0;A6XGM3;A6XGM9;A6XGN2;A6XGN3;A6XGN4;F5H2V8 ABBA01052928;AF336042;AK128070;AK313990;AL035541;AL160176;AMYH01012012;AW243377;AY071919;BC060763;BC130486;BC137482;BC137483;CH471077;DQ294738;DQ778108;DQ778109;DQ778110;DQ778111;DQ778112;DQ778113;DQ778114;DQ778115;DQ778116;DQ778117;DQ778118;DQ778119;DQ778120;DQ778121;DQ778122;DQ778123;DQ778124;DQ778125;DQ778126;DQ778127;DQ778128;DQ778129;DQ778130;DQ778131;NM_001269040;NM_001269041;NM_001269042;NM_001269043;NM_001269044;NM_001269045;NM_001269046;NM_001269047;NM_001269048;NM_001269049;NM_001269050;NM_001269051;NM_001269052;NM_001269054;NM_001269055;NM_080618;NR_072975 AAI30487;AAI37483;AAI37484;AAL61541;AAM28645;ABB92839;ABH10090;ABH10091;ABH10092;ABH10093;ABH10094;ABH10095;ABH10096;ABH10097;ABH10098;ABH10099;ABH10100;ABH10101;ABH10102;ABH10103;ABH10104;ABH10105;ABH10106;ABH10107;ABH10108;ABH10109;ABH10110;ABH10111;ABH10112;ABH10113;BAG36702;BAG54626;EAW75516;EAW75517;EAW75518;NP_001255969;NP_001255970;NP_001255971;NP_001255972;NP_001255973;NP_001255974;NP_001255975;NP_001255976;NP_001255977;NP_001255978;NP_001255979;NP_001255980;NP_001255981;NP_001255983;NP_001255984;NP_542185;Q8NI51 Hs.131543 1699778;1728695;5020635 D7S3207;G63719;RH103496 BORIS;CT27;CTCF-T;HMGB1L1;MGC163358;MGC169105;MGC169106;dJ579F20.2 BORIS-like protein;CTCF paralog;CTCF-like protein;HMG-1L1;OTTHUMP00000031376;OTTHUMP00000174287;brother of the regulator of imprinted sites;cancer/testis antigen 27;putative high mobility group protein 1-like 1;putative high mobility group protein B1-like 1;transcriptional repressor CTCFL;zinc finger protein CTCF-T APPROVED protein-coding ENSG00000124092 16234 09512 607022 REVIEWED 1602017 CTF2P cardiotrophin 2, pseudogene The cytokine neuropoietin belongs to the IL-6 superfamily. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Mar 2013] 16 16 16 p11.2 29291152 29297148 + 30823069 30840812 - 31000308 31006168 - 18085818;15051883;20210993 100289419 ABBA01042069;AC135048;AMYH01007500;AY518206;NG_033188 1684042 RH48534 NP APPROVED pseudo ENSG00000230447 33173 INFERRED 1348672 CTGLF10P centaurin, gamma-like family, member 10 pseudogene 10 10 10 q11.22 42172069 42193908 + 45494046 45516086 + 46174141 46195981 + 653234 AL445201;AMYH01002302;NG_005805 bA358L16.1 pseudo 23659 INFERRED 1348096 CTGLF11P centaurin, gamma-like family, member 11 pseudogene 10 10 q11.22 47178233 47200341 + 47708328 47730236 + 15164054 653259 A8MT82 AL603965;AMYH01002426;NG_005806 A8MT82 bA145E20.1 pseudo 23660 INFERRED 1323374 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 18 18 q23 75540789 75615495 + 77439801 77514510 + 1580863;6480464;7240710 9765293;12676794;19215094;18294453;17081983;16964243;15723517;15670829;15489334;15302935;14702039;14576433;14517542;12732728;12591941;12591939;12578358;12560496;12477932;12370301;12185079;12036313;11273209;10938286;10439962;10385623;9822634;9405607;9159119;15893730;11818576;22692537;12721286;17643375;19255092;19888685;20301787;21672523;18029348;16109377;18562274;21252943;15282305;16239144;19914168;21450944;21906983;23212062;18187620;22952844 9150 K7EJD2;K7EPW4;Q9Y5B0 AA282312;ABBA01013895;AC021594;AC068473;AF081287;AF154115;AK123180;AMYH01009134;BC015010;BC032515;BC047999;BC052576;BC063447;BM512113;BX103692;CF593225;CH471117;DB451780;DB517021;DR001939;NG_007988;NM_001202504;NM_004715;NM_048368 AAC64549;AAD42088;AAH15010;AAH52576;AAH63447;EAW66628;EAW66629;EAW66630;EAW66631;EAW66632;NP_001189433;NP_004706;NP_430255;Q9Y5B0 Hs.465490;Hs.734021 1341670;1685814;1739217;1776084;1783684 D18S1015;D18S1141;D18S1268;RH98831;SHGC-145820 CCFDN;FCP1 CTD of POLR2A, phosphatase of, subunit 1;OTTHUMP00000163841;OTTHUMP00000163842;RNA polymerase II subunit A C-terminal domain phosphatase;TFIIF-associating CTD phosphatase 1;serine phosphatase FCP1a;transcription factor IIF-associating CTD phosphatase 1 APPROVED protein-coding ENSG00000060069 2498 05377 604168;604927 REVIEWED 1313770 CTDSP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q35 213031099 213037286 + 218972722 218978908 + 219263061 219270664 + 1580863;6480464;6484113 10967134;17085434;16189514;15681389;15489334;14743429;12721286;12477932;11950066;20222012;19913121;20628086;19004823;21239611;21348431;21906983;23128233 58190 H7C1Z7;H7C270;H7C3E0;Q9GZU7 ABBA01023870;ABBA01023871;AC021016;AF217969;AF229162;AF229163;AF258582;AK075090;AMYH01011494;AMYH01011495;AMYH01011496;AX017844;AX017988;AY279529;AY279530;BC012977;BX424971;BX446444;CH471063;NG_030418;NM_001206878;NM_021198;NM_182642 AAG15402;AAG15404;AAG17212;AAG23785;AAH12977;AAP34397;AAP34398;ABZ92407;EAW70615;EAW70616;EAW70617;EAW70618;NP_001193807;NP_067021;NP_872580;Q9GZU7 Hs.444468 2143201;2161527 RH12082;WI-12463 NIF3;NLI-IF;NLIIF;SCP1 NLI-IF;NLI-interacting factor 3;OTTHUMP00000164141;OTTHUMP00000207171;OTTHUMP00000207173;OTTHUMP00000207174;carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1;nuclear LIM interactor-interacting factor 3;small C-terminal domain phosphatase 1;small CTD phosphatase 1 APPROVED protein-coding ENSG00000144579 21614 05615 605323 REVIEWED 1345513 CTGLF9P centaurin, gamma-like family, member 9 pseudogene 10 10 10 q11.22 42172260 42191491 + 48523443 48542886 - 48903537 48922780 - 728005 AL731733;NG_005807 bA548K23.1 pseudo 23499 INFERRED 1342553 CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 12 12 12 q14.1 57871630 57898666 - 56499977 56527014 - 58213710 58240747 - 1580863;6480464;6484113 9315096;17085434;16724108;16344560;15489334;15146197;12721286;12477932;8673473;8090779;19004823;16751776;17207965 10106 F8VYL0;F8W184;F8W1I1;H0YI12;H0YI29;O14595 ABBA01026693;AC083805;AC121759;AF000152;AF022231;AK226076;AK291289;AK294930;AK310183;AK310873;AK312413;AMYH01004526;AY279531;BC018922;BC065920;CH471054;CN313995;DB001093;NM_005730;U81556 AAB39318;AAB71816;AAD09331;AAH65920;AAP34399;ADQ32530;BAF83978;BAG58009;EAW97081;EAW97082;EAW97083;EAW97084;EAW97085;EAW97086;EAW97087;EAW97088;EAW97089;NP_005721;O14595 Hs.524530 2118958;5124546 RH45075;RH67816 OS4;PSR2;SCP2 NLI-interacting factor 2;OTTHUMP00000243916;OTTHUMP00000243921;carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2;conserved gene amplified in osteosarcoma;nuclear LIM interactor-interacting factor 2;protein OS-4;small C-terminal domain phosphatase 2;small CTD phosphatase 2 protein-coding ENSG00000175215 17077 12281 608711 VALIDATED 1354028 CTHM cono-truncal heart malformation 7240710 1492 2502 187500;192430;217095 1350898 CTF1 cardiotrophin 1 The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 16 16 p11.2 30815429 30822382 + 30907928 30914881 + 1580863;1626411;1626410;6480464;6907045 15716706;11058912 8833032;7862649;7738033;19273604;19155793;18609050;17979974;17940213;17483238;15489334;15339920;15219667;12707269;12477932;12234945;11834704;8755479;19913121;20628086;20683337;20053569;20224758;20474083;11030335;22418690;21572008;21771897;20686565;21832049 1489 Q16619 ABBA01042067;ABBA01042068;ABBA01042069;AC135048;AMYH01007499;AMYH01007500;BC036787;BC049822;BC064416;CH471192;NG_009171;NM_001142544;NM_001330;U43030;U43033 AAA85229;AAD12173;AAH36787;AAH64416;EAW52192;NP_001136016;NP_001321;Q16619 Hs.483811 1681662;1689089;2124748 D16S3338;RH69935;RH70630 CT-1;CT1 OTTHUMP00000163250;cardiophin 1;cardiotrophin-1 APPROVED protein-coding ENSG00000150281 2499 02699 600435 REVIEWED 1605073 CTDSPL2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 15 15 15 q15.3-q21.1 21609344 21709186 + 42506871 42606722 + 44719579 44819430 + 6480464 16344560;14702039;12477932;11042152;20932329;21139048;21890473;19322201 51496 H0YMB4;H0YMH7;H0YNU2;H0YNW9;Q05D32 ABBA01039206;ABBA01039207;ABBA01039208;AC009996;AC025043;AC025430;AF161478;AF161543;AK001385;AK226094;AK291230;AMYH01006610;AMYH01006611;AY364237;BC018623;BC035744;CH471082;CR627421;DA995235;DQ128104;NM_016396 AAF29030;AAF29093;AAH18623;AAH35744;AAQ76796;AAZ42188;ABM85014;ABW03674;BAA91664;BAF83919;CAH10508;EAW77265;EAW77266;NP_057480;Q05D32 Hs.497967 1338931;1339036;1689145;1708418;1748403;2109411;2163441 C87309;D15S182;D15S537;D15S798;HSPC129_9725;RH80528;SHGC-83497 FLJ10523;HSPC058;HSPC129 CTD small phosphatase-like protein 2;CTDSP-like 2;OTTHUMP00000161810 protein-coding ENSG00000137770 26936 13697 VALIDATED 1351108 CTM cataract, Marner 7240710 2508 116800 1353769 CTGLF8P centaurin, gamma-like family, member 8 pseudogene 10 10 10 q11.22 42172068 42188156 + 46137033 46153305 - 46717127 46733199 - 12477932 728608 AL450334;NG_005864 KIAA0187;bA556L1.5 pseudo 23461 INFERRED 1350681 CTGLF12P centaurin, gamma-like family, member 12 pseudogene 10 10 q11.22 48887804 48909849 - 49217898 49239743 - 12477932;14702039 414224 ABBA01020313;ABBA01020314;AC245041;AL603966;AMYH01002429;BC127745;NR_029396 Hs.645213 bA164N7.2 pseudo 23661 VALIDATED 1345796 CTNNA1P1 catenin (cadherin-associated protein), alpha 1 pseudogene 1 5 5 5 q22 110673208 110676625 - 114752518 114756137 - 114724721 114728138 - 8404069;7601473 1498 ABBA01069033;AC091981;AMYH01015559;NG_001110;Z37994 1745749;2123250 GDB:633557;RH11437 CTNNAP1 APPROVED pseudo 2513 INFERRED 731013 CTGF connective tissue growth factor The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009] 6 6 q23.1 132311009 132314211 - 132269316 132272518 - 1580863;734846;2314476;2314483;2314489;2314507;2314511;2314512;2314513;2314517;2314529;2314535;2314537;2314539;2314603;2314604;2314607;2314612;1601118;2314473;2314488;2314516;632527;2314021;2314490;2314505;2314525;2314366;2314367;2314623;2314357;2314475;2315507;6480464;6484113 11237711;19707545;19659652;19582783;19450451;19395590;19382180;19381071;19371232;19293040;19234054;19154443;19112094;19080126;18987110;18790236;15172885;19743505;19602618;19369054;10679821;19820199;19570811;19463894;19366727;19895808;19856102;18167060;19902320;19730126;19670084 11897682;18481257;18451226;18400984;18395916;18358427;18344285;18319604;18292194;18287089;18266973;18264937;18245529;18212329;18172013;18080105;17996907;17951996;17951630;17944991;17922682;17915216;17908800;17881752;17876891;17786299;17765657;17681742;17673559;17671176;17657819;17622321;17602195;17580150;17550972;17498677;17437852;17399955;17399683;17393107;17375628;17239853;17239539;17224075;17215322;17192487;17170128;17119035;17116388;17093396;16899928;16889607;16877704;16858645;16820572;16813525;16790529;16731742;16684954;16571622;16543635;16528248;16501850;16482098;16457822;16373901;16344560;16291159;16270194;16247469;16204411;16186174;16044512;15956925;15950619;15941869;15940639;15857887;15820145;15761249;15761189;15703175;15598883;15536170;15526358;15459777;15377500;15345671;15298857;15247510;15135656;15113833;15111539;15090860;15053922;15045137;15041728;15039132;15003992;14996858;14988298;14758550;14702039;14684735;14633859;14585398;14574404;14512169;12951326;12941731;12888575;12831056;12811819;12787426;12760970;12668285;12595495;12571253;12553878;12535930;12496395;12477932;12470643;12398938;12297288;12239232;12218048;12217862;12150969;12114504;12036876;12016149;11967989;9371786;10809757;19494553;19453261;19429239;19378419;19301259;19298220;19277979;19247157;19243500;19233176;19210343;19208517;19179545;19153601;19096030;19054818;19054816;19016368;18936953;18922980;18922143;18835464;18805993;18787533;18783549;18676875;18648180;18639630;18628999;18622762;18596209;22205539;22340243;11855859;11818516;11751417;11744618;11697887;11532378;11502477;11101692;10614647;10457363;10350062;10204117;9927660;9242708;9054739;1925598;1654338;1334251;1293144;22134873;22684333;22532143;21245987;21166920;21236242;21245951;20628624;16255854;17579708;19218111;19253834;19409809;19549692;19565505;19589256;19625611;19641518;19657322;19670427;19673024;19724859;19762080;19764552;19764567;19789190;19822645;19863391;19890996;19895313;19922639;19955828;20004937;20015945;20018872;20032097;20032117;20050020;20056838;20117462;20180416;20237496;20305691;20453000;20522428;20237235;17441427;19893244;19333718;20685720;18846327;20053285;20966418;18683703;20522536;21071938;19730442;20162579;20697347;20576680;20660557;20840672;20222112;19485899;20613589;20971063;20201953;21424084;21081514;20814177;21098624;20731800;21455569;21569762;18836231;21349946;20689330;21609573;22918238;23055574;22454511;22516997;23284892;23029004;23175185;21209863;22533709;22576977;22814105;21054221;20238043;21503841;21611193;21673687;21907704;18029348;21484860;21760921;19850743;21629692;21771732;23368866;23564449;22328559;21548990;21352962;21501375;22045431;21558398;21747166;21784839;19861250;21654839;21265091;21609598;21946149;21576830;23061738;23227240;23307318;22416876;22611323;21927029;21659659;21800344;21864521;21955589;21928342;22395513;22363806;19069651;19322201;22350758;22422617;22438586;22539964;22318606;22466886;22964303;23044205;23383241;23390502;23593935;23056332;22795353;23073116;23274856;22335903;22699679;22906474;23142580;22099397;22586581;22846210;23108098;23530034 1490 P29279;Q5M8T4 ABBA01025885;AF127918;AF316366;AF316367;AF316368;AK092280;AK125220;AK290884;AK315207;AL354866;AMYH01016676;AY395801;AY550024;BC087839;BT019794;BT019795;CH471051;CR541734;CR541759;DA552292;DQ097843;FB668169;HH976319;HM015591;M92934;NG_016131;NM_001901;U14750;X78947;X92511 AAA75378;AAA91279;AAH87839;AAK60505;AAK60506;AAK60507;AAQ95223;AAS55639;AAV38597;AAV38598;AAZ29611;ADL14512;BAF83573;BAG37644;BAG52518;BAG54167;CAA55544;CAA63267;CAG46534;CAG46559;CAS92743;CBX51740;EAW48038;EAW48039;NP_001892;P29279 Hs.410037 1654585;1657708;1803672;1804218;1805344;1806600;1819754;1831236;1842488;1917120;1917122;1917124;1917126;1917128;1917130;1917132;1917134;1917136;1917138;1917140;1917142;1917144;1917146;1917148;1917150;1917152;1917154;1917156;1917158;1917160;1917162;1917164;2140451;2146947;2178092;2206242;2206244 D6S2424;ECD02742;ECD03031;ECD03619;ECD04257;ECD10947;ECD16754;ECD22450;REN29375;REN29376;REN29377;REN29378;REN29379;REN29380;REN29381;REN29382;REN29383;REN29384;REN29385;REN29386;REN29387;REN29388;REN29389;REN29390;REN29391;REN29392;REN29393;REN29394;REN29395;REN29396;REN29397;RH18002;RH35874;SHGC-12753;STS-X78947;stSG626375;stSG626376 CCN2;HCS24;IGFBP8;MGC102839;NOV2 CCN family member 2;IBP-8;IGF-binding protein 8;IGFBP-8;OTTHUMP00000017213;connective tissue growth factor;hypertrophic chondrocyte-specific protein 24;insulin-like growth factor-binding protein 8 APPROVED protein-coding ENSG00000118523 2500 00412 121009 REVIEWED 1352911 CTHRC1 collagen triple helix repeat containing 1 This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 8 8 8 q22.3 100570330 100581762 + 104452962 104464393 + 104383743 104395233 + 1580863;6480464;6484113 18467647;16778098;15618538;15489334;15340161;12975309;12477932;19730683;21791690;23274062;23359115;23222813;22590977 115908 E5RK99;E7EVQ5;Q96CG8 ABBA01037635;AC012213;AC069351;AF395488;AI743774;AK130063;AK300273;AMYH01018944;AY136825;AY358914;BC014245;BC021025;BI763295;CH471060;NG_031985;NM_001256099;NM_138455 AAH14245;AAN15749;AAO17919;AAQ89273;ADZ15686;BAG62033;EAW91874;EAW91875;EAW91876;NP_001243028;NP_612464;Q96CG8 Hs.405614 1697998 RH102528 OTTHUMP00000227821;OTTHUMP00000227823;collagen triple helix repeat-containing protein 1 APPROVED protein-coding ENSG00000164932 18831 16772 610635;614266 REVIEWED 732084 CTH cystathionase (cystathionine gamma-lyase) This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] 1 1 p31.1 70649543 70677841 + 70876901 70905534 + 1600763;1600761;1300048;1359024;6480464;6907045;7240710;7242427 15683713;12574942;9359866;20162368 19324355;19161160;19048631;19019829;18988749;18849566;18701025;18676680;18476726;17311259;16710414;16189514;15489334;15347670;15151507;12477932;8125298;1339280;21507721;19913121;20628086;20634891;20849728;18029348;10212249;19170196;19261609;19418582;19428278;19531479;19625176;19692168;19948975;20175737;20584029;22863883;20446008;21659522;22310774;21963094;21988832;23393010;22034194;22360859;21139048;21890473;21906983;19850743;21886822;19322201 1491 P32929 ABBA01074478;ABBA01074479;ABBA01074480;ABBA01074481;AK223376;AK303946;AK310269;AL354872;AMYH01000700;BC015807;BT006882;CH471059;DB466459;NG_008041;NM_001190463;NM_001902;NM_153742;S52028;S52784 AAB24699;AAB24700;AAH15807;AAP35528;ACE86883;ACE87570;BAD97096;BAG64874;EAX06450;EAX06451;NP_001177392;NP_001893;NP_714964;P32929 Hs.19904 1338628;1688628;2109203;2180663;7187898 CTH_8288;D1S501;RH65074;RH66843 MGC9471 OTTHUMP00000010945;OTTHUMP00000010946;cystathionine gamma-lyase;cysteine desulfhydrase;cysteine-protein sulfhydrase;gamma-cystathionase;homoserine deaminase;homoserine dehydratase APPROVED protein-coding ENSG00000116761 2501 09633 219500;607657 REVIEWED 737465 CTLA4 cytotoxic T-lymphocyte-associated protein 4 This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008] 2 2 q33 204440754 204446928 + 204732511 204738683 + 1300386;1300385;1358538;1300388;1300387;1580863;1300299;2302003;2301958;2302001;2301974;2301976;2301995;2301975;2301997;2301998;2302000;4891517;4891507;4891528;4891519;4891524;4891518;4891500;4891510;4891512;4891520;4891522;4891523;4891526;4891515;4891516;4891521;4891504;4891527;4891499;4891529;4891514;4891509;6480464;6907045;7204512;7204516;7204518;7204687;7240710;7204675;7204514;7204724;7204500;7204515;7204519;7204671;7204674;7204678;7204725;7204726;7204691;7204722;7204723;7204727;2312302;6902936;6902906;7204684 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21829393;21841780;21866398;22245568;22262842;22493691;22179750;20650297;16769128;16767670;16756466;16750991;16712655;16708397;16670525;16641053;16640877;16638702;16629714;16620985;16614815;16611252;16604497;16571085;16567828;16564528;16527605;16512757;16509873;16504663;16489681;16476059;16445777;16417239;18328194;18296657;18292987;18292106;18282809;18256061;18223493;18200060;18174230;18162511;18095376;18093182;18088253;18081831;18078835;18076363;18059468;18056853;18056379;18049163;18047932;18041714;18031393;18021981;18000051;17970785;17970696;17960657;17949264;17941906;17938902;17937736;17920697;17919231;17846597;17825114;17785820;17785798;17767555;17712998;17712006;17703412;17666451;17659059;17558709;17526951;17524498;17521325;17504905;17482523;17465502;17459075;17456215;17439880;17427759;17426089;17384200;17341658;17341301;17334650;17287608;17284227;17280620;17269936;17257313;17225925;17209142;17197413;17192819;17154080;17150279;17138053;17130562;17130532;17082597;17079164;17048303;17020648;17015751;17005693;17004266;17000707;16980072;16972006;16931720;16916658;16893393;16891094;16872485;16869018;16868438;16849765;16831326;16818761;16797372;16792673;16788246;16775619;3220103;18641304;15814706;19622768;19621172;19609446;19602000;19595177;19592124;19563524;19559744;19559392;19543113;19530270;19527514;19524188;19505258;19503088;19490216;19479237;19473815;19404967;19380781;19376178;19345707;19333938;19332045;19332044;19284445;19284444;19269255;19264973;19263877;19263529;19258923;19254250;19247692;19230824;19225544;19222422;19202444;19188433;19180256;19175525;19173720;19147248;19143820;19141582;19136037;19131662;19129082;19103559;19092854;19089435;19073967;19036923;19028820;19026137;19020530;19019335;19014504;19012493;18978792;18974840;18940880;18930330;18929517;18925838;18848621;18818748;18817831;18783892;18782261;18780601;18778710;18757416;18752454;18705023;18691768;18691306;18687223;18680513;18676680;18665147;18636124;18633131;18595775;18580850;18576317;18563180;18556337;18545145;18528295;18523152;18498289;18493148;18466531;18466513;18462498;18449568;18448390;18396212;18378005;18371160;18361934;18341485;18337305;21661409;22249287;22414241;22753931;21744007;22094905;22136395;16405845;15507878;15494488;15489334;15486062;15485777;15476165;15452244;15378793;15356063;15334480;15305888;15301861;15248219;15240634;15237707;15218356;15208156;15199380;15182328;15180809;15140570;15138458;15132716;15128776;15114591;15061706;15059373;15055474;15022315;15019292;15019278;15018649;14986169;14975605;14751028;14730632;14720259;14715845;14709415;14705224;14678452;14675397;14629291;14616291;14567561;14566095;14522090;14505215;12942714;12914522;12911663;12894875;12873588;12864988;12858454;12838528;12826605;12794109;12791095;12780750;12732844;12724780;12717632;12696006;12618861;12610047;12606712;12582153;12574361;12559633;12555221;12540792;12534352;12515273;12508774;12507781;12477932;12465728;12458055;12458054;12455815;12444128;12393538;12384790;12355442;12297345;12244107;12225905;12225635;12202150;12195015;12185534;12173468;12135671;12121283;12097196;12071705;12060749;12058260;12050220;12047362;12047357;12032199;12030917;12021313;12007590;12003670;11994459;11978629;11936461;11916172;11900275;11886967;11857062;11842815;11788096;11776689;11771526;11752507;11751964;11735222;11726229;11685455;11681491;11678454;11678447;11606170;11583755;11583591;11580858;11555351;11522687;11477480;11426024;11327371;11288988;11286636;11279501;11239948;11167807;11162656;11158025;11128657;11098935;11092697;11086105;11081251;11021528;10924276;10903931;10842319;10831323;10799854;10556814;10493833;10475192;10372542;9973379;9813138;9812899;9724847;9712716;9256472;9228944;9200449;8638161;7807015;7694153;7559643;7545666;7513726;1714933;1713603;17023015;10618429;11279502;15610849;11826754;11826026;16393254;16390390;16380915;16378074;16373368;16362660;16325273;16313305;16299026;16279844;16276008;16259622;16248997;16237465;16229750;16227604;16206510;16189655;16178018;16137550;16136471;16133179;16112024;16101935;16081581;16046318;16045690;16040335;16034471;16025348;16025255;16015687;16005527;16002699;15994283;15973119;15961581;15953005;15943829;15940668;15928253;15904974;15888380;15888281;15881277;15860238;15841095;15818712;15815621;15812539;15790344;15785242;15784471;15711022;15708585;15688186;15657618;15652423;15649153;15640608;15629882;15621571;15617700;15610363;15579786;15549146;15546339;15540511;15517637;21474713;19913121;20141578;20536507;20557968;20565774;20586801;20587610;20588168;20596022;20603037;20610662;20615526;20628086;20716038;20805278;20813679;21356099;21316924;19438904;20608155;20869265;21160481;20331384;20578265;20868585;20704820;20716621;20825955;20848568;20881011;20920330;20962850;21034161;21040781;21044351;21049406;21054240;21081144;21082224;21084022;21085187;20138855;17875758;20482250;20453842;18246813;19037649;19170196;19173804;19403062;19430480;19547759;19570209;19570770;19578600;19625176;19625381;19638588;19658300;19669200;19672595;19688278;19692168;19731979;19734241;19735272;19735686;19737153;19737369;19740340;19758313;19766059;19776380;19778566;19780033;19787358;19811307;19815302;19817985;19824886;19857736;19884265;19894308;19895409;19896092;19913589;19922464;19949652;19950182;19951233;19951419;19956097;19959217;20012554;20015215;20016193;20016783;20017310;20020126;20030788;20037585;20066438;20072139;20082854;20087947;20113255;20134044;20145677;20190752;20214754;20219786;20224272;20233754;20237496;20300120;20331378;20345871;20352109;20358027;20371478;20378605;20378664;20388336;20394753;20395963;20408864;20416077;20418973;20433886;20435510;20439292;20444755;20445568;20453000;20470888;20477885;20491567;20498205;20503287;20537165;20538028;20123855;20306312;22318401;22968483;21513760;21091900;21154316;22027421;20578982;21168689;21291098;21422625;21165767;20633650;21414236;23010350;23010434;22922453;23372431;23641913;21161390;21594562;21612409;21346773;22711308;22718509;22722994;22723841;21453059;21251066;21677403;21537684;21599853;22951729;21131701;21784728;23261825;23252863;23323522;23432692;23254121;23289635;22727980;21644231;21915163;22376040;22153879;21387262;21620894;21669243;22053592;21519805;21722820;21807564;22547705;21503616;21723783;21797987;21934066;22699762;22011251;22342451;22783574;21170090;21615267;21832820;21847627;22218756;21553055;22028176;22118691;19322201;22271879;22354566;22574131;22579879;23049754;22905924;21982860;22917707;22178694;22307437;23009570;23300559;22989439;22932817;23232526;23400950;23597029;23018253;19275586;21909273;22340049;22359319;22497911;22811616;22836632;22844542;22902304;22707194;22964358;22700162;23039885;22155204 1493 Q8WXJ1 ABBA01062619;AC010138;AF142144;AF316875;AF411058;AF414120;AF486806;AK313732;AMYH01011418;AY209009;AY792514;AY999702;BC069566;BC070162;BC074842;BC074893;BG058720;CD639535;CH471063;DQ357942;DQ534200;DQ785106;GN344047;L15006;M74363;NG_011502;NM_001037631;NM_005214;U90273 AAA52127;AAB59385;AAD00698;AAF02499;AAH69566;AAH70162;AAH74842;AAH74893;AAK13084;AAL07473;AAL40932;AAL96664;AAO17066;AAV66331;AAX93176;AAY00166;ABC67470;ABG79000;ABG85285;BAG36473;CAY55959;EAW70354;NP_001032720;NP_005205;P16410 Hs.247824 1855598;2152618 GDB:180415;STS-M37245 CD;CD152;CELIAC3;CTLA-4;GRD4;GSE;ICOS;IDDM12 CD152 isoform;OTTHUMP00000163781;OTTHUMP00000216623;OTTHUMP00000216624;cd152 antigen;celiac disease 3;cytotoxic T lymphocyte associated antigen 4 short spliced form;cytotoxic T-lymphocyte antigen 4;cytotoxic T-lymphocyte protein 4;cytotoxic T-lymphocyte-associated antigen 4;cytotoxic T-lymphocyte-associated serine esterase-4;ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 APPROVED protein-coding ENSG00000163599 2505 00474 123890;140300;601388;609755 REVIEWED 1350648 CTIF CBP80/20-dependent translation initiation factor CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009] 18 18 18 q21.1 42914746 43243180 + 44319425 44643582 + 46065427 46389588 + 1580863;6480464 15489334;14702039;12477932;9455477;8889548;18029348;19648179;20379614;21840310;19322201;23382691 9811 K7EK08;K7EPK6;K7EQS5;K7EQS9;O43310 AB007887;ABBA01018637;ABBA01018638;ABBA01018639;AC022919;AC048380;AC093567;AK095970;AMYH01008982;AMYH01008983;AMYH01008984;BC042146;BU688371;CH471096;NM_001142397;NM_014772 AAH42146;BAA24857;BAG53180;EAW62925;EAW62926;EAW62927;EAW62928;NP_001135869;NP_055587;O43310 Hs.145230 1726629;1769916;1783672;1783730;2116705;2129096;2130545 G62549;RH36489;RH78693;SHGC-144764;SHGC-155204;SHGC-34708;WI-21880 Gm672;KIAA0427 CBP80/20-dependent translation initiation factor;OTTHUMP00000163491 APPROVED protein-coding ENSG00000134030 23925 11083 613178 VALIDATED 1320341 CTNNA3 catenin (cadherin-associated protein), alpha 3 10 10 q22.2 67349937 69125933 - 67679725 69455949 - 1580863;6480464;6907045 11590244;19187332;19105203;18163421;17761686;17535849;17366617;17209133;17158188;17081983;16199552;15533819;15489334;15342556;15302915;15164054;15075440;14559775;12596047;12477932;21562850;16385451;20306291;20379614;20546594;20400461;19913121;20628086;21254927;21598020;22948383;21988832;22977168;23064961;23251661;23358160;23136403;22190034;22398721;23718855 29119 A6NKP0;A8K141;F2Z2R0;Q5SW23;Q9UI47 ABBA01019532;ABBA01019533;ABBA01019534;ABBA01019535;ABBA01019536;ABBA01019537;ABBA01019538;ABBA01019539;ABBA01019540;ABBA01019541;ABBA01019542;ABBA01019543;ABBA01019544;ABBA01019545;ABBA01019546;AC016819;AC018979;AC020642;AC022017;AC022029;AC022401;AC022534;AC026394;AC069536;AF091606;AF282692;AK289756;AK308726;AK313882;AL139240;AL592075;AL607022;AL607023;AL713957;AL731538;AL731549;AMYH01002785;AMYH01002786;AMYH01002787;AMYH01002788;AMYH01002789;AMYH01002790;AMYH01002791;AMYH01002792;AMYH01002793;AY198183;BC022004;BC030646;BC065819;BP362015;CH471083;NM_001127384;NM_013266 AAF21801;AAH22004;AAH30646;AAH65819;AAO43101;AAQ14328;BAF82445;BAG36608;EAW54249;EAW54250;EAW54251;NP_001120856;NP_037398;Q9UI47 Hs.660362 1298123;1335257;1337516;1341064;1667189;1673504;1676768;1685954;1693716;1700384;1706740;1706840;1707460;1713667;1716119;1720259;1723157;1726925;1727009;1727517;1728523;1730289;1753669;1756613;1764027;1766611;1775958;1781978;2106805;2121073;2122912;2132248;2134996;2150040;2156724;2163322;2167794;2178592;2186125;2218446;5019901;7184702 074XE1;CGR166;CTNNA3_4652;Cda0og07;D10S1192;D10S1422;D10S1646;D10S1670;D10S2294;D10S233E;D10S2340;D10S2445;D10S502;D10S522;D14S1278;G17504;G54754;G62706;G62902;G63016;G63699;GAAT-P8562;HSC1UA032;RH103812;RH120716;RH121024;RH123763;RH123878;RH92057;SHGC-107614;SHGC-143653;SHGC-144180;SHGC-147682;SHGC-149915;SHGC-58636;SHGC-80827;SHGC-80902;SHGC-84525;STS-AA009437;STS-Z39591;WI-22233 MGC26194;MGC75041;VR22 OTTHUMP00000019684;alpha T-catenin;alpha-T-catenin;alpha-catenin-like protein;cadherin-associated protein;catenin alpha-3 protein-coding ENSG00000183230 2511 09639 607667 VALIDATED 1312865 CTNNA2 catenin (cadherin-associated protein), alpha 2 2 2 2 p12-p11.1 79568796 80704725 + 79593634 80729416 + 79740060 80875993 + 1580863;6480464;6907045 8432524;19240061;18519826;18464913;18163523;15815621;15489334;12477932;1638632;19913121;20628086;12808048;16182284;16325583;16344560;18839057;19416921;20379614;15923648;23398456;23535033;21708131;18781797;21139048;21906983;21890473;21963094;22833195;23000965;22797925 1496 B8ZZE7;B9A010;C9IZ88;C9J144;Q49AD3;Q53T67 ABBA01075675;ABBA01075676;ABBA01075677;ABBA01075678;ABBA01075679;ABBA01075680;AC008067;AC010975;AC011741;AC011746;AC016670;AC016716;AC093322;AC096573;AC096753;AC104780;AK127226;AK294362;AK295181;AK295493;AK303035;AL708938;AMYH01010473;AMYH01010474;AMYH01010475;AMYH01010476;AMYH01010477;AMYH01010478;BC040458;BC052996;BX537769;BX648368;CH471053;DA313393;DC341423;FJ695201;HQ589336;M94151;NM_001164883;NM_004389 AAA58407;AAH40458;AAH52996;AAX88946;AAX93241;AAY14758;AAY14763;AAY15008;AAY15073;AEF32484;BAG54457;BAH11745;BAH12003;BAH12088;BAH13884;CAD97832;EAW99563;EAW99564;EAW99565;NP_001158355;NP_004380;P26232 Hs.167368 1335244;1340993;1341472;1342053;1651042;1663940;1671005;1685247;1693548;1696082;1697496;1704290;1704732;1714399;1719287;1719993;1721533;1727663;1734954;1739287;1743343;1751471;1753383;1755171;1764251;1775292;1779524;1784284;2107289;2109205;2114785;2149058;2154117;2157837;2158208;2163614;2173793;2176390;2184035;2218620;7186253 1886;CTNNA2_567;Cda0zh07;D2S139;D2S1708E;D2S1942E;D2S195E;D2S2082;D2S2180;D2S2191;D2S2508;D2S253;G10614;G59621;G63245;GDB:315061;LRRTM1__7335;RH102250;RH120192;RH123366;RH123973;RH47921;RH48071;RH66010;SHGC-105309;SHGC-107219;SHGC-142093;SHGC-147872;SHGC-153496;SHGC-172957;SHGC-17687;SHGC-31140;SHGC-58461;SHGC-79114;SHGC-79646;SHGC-83284;STS-M78331;TOP3A__3878;WI-18395;WI-7682 CAP-R;CAPR;CT114;CTNR;DKFZp686H02198 OTTHUMP00000216460;OTTHUMP00000216461;OTTHUMP00000216462;alpha N-catenin;alpha-N-catenin;alpha-catenin-related protein;cadherin-associated protein, related;cancer/testis antigen 114;catenin alpha-2 protein-coding ENSG00000066032 2510 00228 114025 VALIDATED 1348842 CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 5 5 q31.2 138117006 138298622 + 138089107 138270723 + 1580863;2289491;2289791;2289792;2289795;2289798;2289799;2289804;2289811;2289793;2289796;2289797;2298485;2298486;6480464;6484113;6907045 17760743;17639504;17223851;12047765;9522220;9355975;15195114;9863006;16334164;11431364;11161853;16803534;16426728 21145461;21708131;12734196;12477722;9700171;8323564;19124205;18566211;18418437;18078809;17979184;17668349;17576040;17081983;16807684;16798615;16344560;16322481;16273278;15948257;15916880;15695815;15561718;15541354;15489334;15302935;15297182;14755240;14702039;14599963;12532469;12477932;12003790;11907041;11179419;11069925;10635315;10508479;10026224;9512503;9266853;9110993;8404069;8188230;7945318;7790378;7706414;7650039;1924379;1904011;11883950;10420987;9762469;12640114;7954478;9434630;10910767;10381631;11960376;9233779;8227214;7542250;11080149;14625392;12604612;12808048;14567991;7651399;8259519;12417594;15294866;19913121;20529814;20529828;20628086;19763817;10460003;10868478;11226248;11274246;19458087;19656157;19726720;19745064;19773761;19826047;19918298;19941816;7806582;7890674;9168809;9214391;20936779;20032304;20371743;15923648;21030692;16927799;21832049;22939629;22774602;22863883;21875946;22381337;18781797;20360068;21139048;21693764;21890473;21900206;21906983;21963094;21937720;18215130;22080244;17620599;22493458;22586326;15492215;16212417;20933443;22469663;23000965;23383273;23208944;17072306;22797925 1495 E5RFG3;E5RFK9;E5RFM3;E5RFM5;E5RG03;E5RGD2;E5RGG4;E5RGS1;E5RGU3;E5RGY6;E5RGY7;E5RHJ5;E5RHR7;E5RHV7;E5RHY5;E5RIB1;E5RIC3;E5RIE0;E5RIT8;E5RJ41;E5RJ43;E5RJC9;E5RJL0;E5RJP7;E5RJZ2;F8W845;G3XAM7;H0YB54;H0YBB8;P35221;Q8N1C0 ABBA01068653;ABBA01068654;ABBA01068655;ABBA01068656;ABBA01068657;ABBA01068658;AC011405;AC034243;AF102803;AK055751;AK094151;AK296708;AK297332;AK300439;AK304267;AMYH01015644;AMYH01015645;AMYH01015646;AU141929;AY884207;BC000385;BC031262;BU624488;CH471062;D13866;D14705;HQ589335;L22080;L23805;NM_001903;U03100 AAA18949;AAA35502;AAA86430;AAC99459;AAH00385;AAH31262;AAW56940;ABM82176;ABM85361;AEF32483;BAA02979;BAA03530;BAG52830;BAG59301;BAG62162;BAG65130;BAH12550;EAW62122;EAW62123;EAW62124;NP_001894;P35221 Hs.445981;Hs.656653 1654738;1658427;1688221;1758727;1778180;1780840;1780848;1785438;2115968;2123250;2126537;2147993;2148861;2159620;2163552;2167484;2174861;2191049;5037328;5114686;5117602;5121627;5493881 A002T30;D5S1856;D5S2430;D5S517E;G17002;G29950;GDB:591091;Lrrtm2;MARC_13807-13808:1006870442:1;RH11437;RH16367;RH36132;RH70257;RH91185;SHGC-13050;SHGC-145669;SHGC-149332;SHGC-2340;SHGC-36193;STS-AA026630;WI-17966;bac5237S;bac5253S CAP102;FLJ36832;FLJ52416 OTTHUMP00000224141;OTTHUMP00000224147;alpha E-catenin;alpha-E-catenin;alpha-catenin;alphaE-catenin;cadherin-associated protein,102kDa;catenin alpha-1;renal carcinoma antigen NY-REN-13 2293448 PRSTS211_H protein-coding ENSG00000044115 2509 00285 116805 VALIDATED 1322895 CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 9 9 q31.2 110744672 110815585 - 111704851 111775764 - 6480464 21278790;18374411;17952117;17647259;15489334;15164053;14993280;14702039;14690447;12694354;12477932;12270917;11768226;10542337;9806841;8125298;21115837;20696764;20677014;22733455;22359570;21139048;21906983;23047866;21988832;22648798;23000965 8727 Q5JTQ6;Q5JTQ9;Q9UBT7 AB451283;AB451415;ABBA01042774;ABBA01042775;ABBA01042776;ABBA01042777;AF006070;AF030233;AF080071;AF134871;AF134872;AF134873;AF134874;AF134875;AF134876;AF134877;AF134878;AF134879;AF134880;AF134881;AF134882;AF134883;AF134884;AF134885;AF134886;AF134887;AF134888;AF135021;AK022539;AK022834;AK022926;AK223230;AK314677;AL050016;AL354797;AMYH01021618;AY523969;BC117208;BC117234;CH471105;NM_003798;U97067 AAC26011;AAC27693;AAC69576;AAC83460;AAF07819;AAF07820;AAF07821;AAI17209;AAI17235;AAR92479;ADR83406;BAD96950;BAG37231;BAG51138;BAG70097;BAG70229;CAB43238;EAW59035;EAW59036;EAW59037;NP_003789;Q9UBT7 Hs.58488 1697108;1728355;1772757;1777003;1848496;2138781 A004G45;G29131;G63459;RH102038;SGC38315;STS-W44423 CLLP;FLJ08121;alpha-CATU ACRP;OTTHUMP00000021872;OTTHUMP00000021873;alpha-catenin-related protein;alpha-catulin;alpha2-catulin;catenin alpha-like protein 1 protein-coding ENSG00000119326 2512 09210 604785 PROVISIONAL 1350422 CTNNBIP1 catenin, beta interacting protein 1 The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.22 9830921 9892903 - 9908334 9970316 - 1580863;6480464;6907045 21574102;10898789;19089909;19038973;18992165;18854359;18852287;18844223;18806748;18715618;18705344;18500270;18433021;18183411;18070361;17638851;17418091;17255093;16575872;16189514;15489334;15063782;14613891;12477932;12417602;12408825;12408824;12182422;12124804;12068170;17353931;20182836;19433865;19898961;20811694;20830236;20878057;16293619;16325583;16858403;17072306;19550115;19569129;16188939;20219600;18287330;18977368;21049553;20970365;22749188;22815884;20809334;21532622;21478268;21336584;23027379;21636708;20300972;20034989;21885566;22075503;21791486;19322201;22081448;21890473;23339455;22053931 56998 Q9NSA3 AB021262;ABBA01035571;ABBA01035572;ABBA01035573;AL357140;AMYH01000241;AMYH01000242;BC014300;BC146892;BC146896;BI226022;CB995652;CH471130;NG_029165;NM_001012329;NM_020248 AAH14300;AAI46893;AAI46897;AAI72294;ABZ92405;BAB03458;EAW71631;EAW71632;NP_001012329;NP_064633;Q9NSA3 Hs.463759 1660728;1692442;1855338;2109207;2128767;2175355;2184755 AL033871;CTNNBIP1_7272;HSC13F032;SHGC-30730;SHGC-74192;SHGC-74197;SHGC-74198 ICAT;MGC15093 OTTHUMP00000001722;OTTHUMP00000001723;OTTHUMP00000001724;OTTHUMP00000001725;beta-catenin-interacting protein 1;beta-catenin-interacting protein ICAT;catenin, beta-interacting protein 1;inhibitor of beta-catenin and Tcf-4 APPROVED protein-coding ENSG00000178585 16913 09677 607758 REVIEWED 1351145 CTPL1 cataract, pulverulent (autosomal recessive, early-onset) 7240710 11179024 81863 1337850;1338296;1340386 D9S1123;D9S257;D9S768 30997 1353744 CTNND2 catenin (cadherin-associated protein), delta 2 This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome.[provided by RefSeq, Aug 2010] 5 5 p15.2 11024952 11957110 - 10971952 11904110 - 1580863;6480464;7240710 9223106;9342840;19240061;19165527;18978817;18940311;18421076;18302937;17687028;16226102;15372022;15345747;12835311;12477932;11891774;11821434;11729199;11076863;10896674;10673328;10413599;10208590;10080919;10037471;9971746;9721216;9110174;9049630;8619474;10332026;20108168;20889312;22889411;15193146;19706687;20074565;20379614;21095009;20859058;21106062;21070476;21900206;21906983;21911587;22424883;21811021;22759899;21890473;22053931;22213037;23000965;22984439 1501 B4DRK2;D6R9A8;D6RBA8;D6RC65;D6RF55;D6RHE9;E7EPC8;E9PHB5;Q9UPM3 AB013805;ABBA01020607;ABBA01020608;ABBA01020609;ABBA01020610;ABBA01020611;ABBA01020612;ABBA01020613;ABBA01020614;AC003089;AC003954;AC004633;AC004648;AC005367;AC005610;AC010433;AC010626;AC113390;AC127460;AF035302;AK127257;AK226124;AK294420;AK296232;AK299300;AMYH01014905;AMYH01014906;AMYH01014907;AMYH01014908;AMYH01014909;BF512945;CH471102;EU328348;EU350953;NG_023544;NM_001332;U52351;U52828;U72665;U81004;U96136 AAB68599;AAB83940;AAB88185;AAB96357;AAB97957;AAC63103;AAD00453;AAI11838;ABY59658;ACA13456;BAA36163;BAG54466;BAG57669;BAG58953;BAG61314;EAX08053;EAX08054;EAX08055;NP_001323;Q9UQB3 Hs.314543 1298186;1336879;1339103;1340008;1341827;1644418;1658736;1671648;1671788;1705864;1709054;1713785;1715865;1716847;1717075;1718589;1718829;1725071;1727291;1748519;1774026;1776938;1785292;1785672;1795634;1849699;2111107;2112170;2114618;2138362;2138364;2139400;2150899;2152523;2157962;2158223;2168052;2170862;2185561;7187046;7187576 1732;A002D18;CTNND2_1446;D5S117;D5S1987;D5S2317;D5S2586;D5S2769;D5S2865;D5S2867;D5S2881;D5S2882;D5S2883;D5S2887;D5S2897;D5S478;D5S569E;D5S667;D5S817;G19954;G63052;L28201;RH11828;RH118831;RH119627;RH120779;RH121454;RH121717;RH122980;RH123118;RH46037;SGC38317;SHGC-107760;SHGC-31327;SHGC-53360;SHGC-70151;SHGC-79635;SHGC-81193;WI-13430 GT24;NPRAP OTTHUMP00000115594;OTTHUMP00000220687;OTTHUMP00000220689;OTTHUMP00000220690;T-cell delta-catenin;catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein);catenin delta-2;delta-catenin;neural plakophilin-related ARM-repeat protein;neurojungin APPROVED protein-coding ENSG00000169862 2516 09181 123450;604275 REVIEWED 1318250 CTNS cystinosin, lysosomal cystine transporter This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 17 17 p13 3486511 3513146 + 3539762 3566397 + 1342442;1601022;1580863;6480464;7240710 15179208;9537412 15128704;16439594;7112129;17471495;15956064;11150305;18752449;22450360;17643777;17137217;16344560;15885099;15365816;12477932;12442267;12401840;12204010;12110740;11708862;11565547;11505338;11121245;10673275;10625078;10571941;10556299;10482956;10444339;10068513;9792862;20079424;20352457;20413906;11855931;12138135;19580442;19852576;19863563;21508882;22649030;21786142;22232659;20301574;18337546 1497 A8MXW3;C9JMM9;F5H4I4;F8W6Z1;I3L0Z6;I3L1K8;I3L484;I3L4A9;O60931 ABBA01054742;AC027796;AC132942;AF168787;AJ222967;AK292019;AK296178;AK297525;AK309044;AK309651;AMYH01008031;AMYH01008032;BC032850;BX369529;CA454595;CH471108;CR542058;DB026195;NG_012489;NM_001031681;NM_004937;Y15924 AAF43102;AAH32850;ADZ16096;BAF84708;BAG58913;BAG59928;CAA11021;CAA75882;CAG46855;EAW90494;EAW90495;EAW90496;NP_001026851;NP_004928;O60931 Hs.187667 1339254;1678563;1687866;2118456;2143969;2218448;5022450;5024761 A008L05;CTNS_4653;D10S275;D15S1258;D17S829;RH36905;RH80740;RH92559 CTNS-LSB;PQLC4 OTTHUMP00000115861;OTTHUMP00000197111;cystinosin;cystinosis, nephropathic APPROVED protein-coding 2518 05885 219750;219800;219900;606272 REVIEWED 1346196 CTNNBL1 catenin, beta like 1 The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] 20 20 q11.23-q12 35755848 35933934 + 36322434 36500520 + 1580863;6480464;6907045 18722174;12659813;18029348;19245693;19228371;18325910;17903296;16730941;16189514;15635413;15498874;15489334;15175653;14702039;12477932;11780052;8125298;16712791;16344550;20200978;20379614;17332742;20712903;20816195;21385873;21055033;21215100;20360068;22365833;23277564;23383273;21139048;19471022;22318606;20176811;22505724 56259 A2A2P1;B4DE16;Q8NCL2 AA469176;ABBA01006628;ABBA01006629;ABBA01006630;AF086002;AF239607;AF367471;AF370431;AK024761;AK074663;AK091216;AK130301;AK222592;AK293420;AL023804;AL109964;AL118499;AMYH01011899;AMYH01011900;BC022802;BC036739;BC121005;BC121006;CB137946;CH471077;DC358260;NM_001281495;NM_030877 AAH22802;AAI21006;AAI21007;AAK53407;AAL69567;AAQ15267;BAB14992;BAC11121;BAD96312;BAG56927;EAW76054;EAW76055;NP_001268424;NP_110517;Q8WYA6 Hs.472667 1335950;1670672;1674844;1691360;1693404;1777001;1777505;1784350;2129717;2136805;2139315;2180661;7186291 AL031797;AL034516;D20S750;D20S859;G09824;RH48105;RH65434;RH67827;SHGC-106585;WI-18282;Z94357;Z94669 C20orf33;FLJ21108;NAP;NYD-SP19;P14L;PP8304;dJ633O20.1 OTTHUMP00000030939;OTTHUMP00000030940;beta-catenin-like protein 1;nuclear associated protein;nuclear-associated protein;testis development protein NYD-SP19 APPROVED protein-coding ENSG00000132792 15879 10850 611537 REVIEWED 1313793 CTNND1 catenin (cadherin-associated protein), delta 1 This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010] 11 11 q11 57285810 57343228 + 57529234 57586652 + 1580863;6480464;6484113 12734196;19293150;19284555;19162367;19154401;19150613;19116988;19008223;18979298;18950621;18837082;18653469;18641366;18632982;18595142;18550473;18490349;18407999;18343367;18032823;17719574;17668445;17576929;17509776;17383052;17344476;17334396;17264675;17242406;17081983;16982802;16935280;16786001;16534869;16344560;16226102;16212419;16120645;16083285;15951569;15857834;15833838;15817151;15592455;15588985;15561585;15522875;15342556;15324660;15240885;15161659;15146197;14996911;14699141;14660598;14610056;14610055;12885254;12835311;12740216;12671892;12640114;12492499;12477932;12427869;12370829;12151522;12115574;11969288;11855855;11821434;11389551;11382764;11181067;10931041;10835420;10753936;10629228;10409703;10393933;10321838;10225956;10207085;9774455;9653641;9378757;9205841;8808291;8660921;7876318;7651399;12707304;9535896;7542250;10208590;14625392;12604612;11712088;20510078;21098636;21937720;21385933;21145461;22777005;20382170;20564219;20108168;20599710;19394292;21070476;18541383;20460685;20562859;20668551;20151151;11226248;15548582;17215244;18029348;19604117;19615732;19615783;19706605;19711372;20118984;20172018;20232357;20371349;7806582;15166316;20940130;20971762;19763914;19332538;21481789;21336985;17047063;22833523;20193553;19894558;21468542;23220088;23383273;22833212;21832049;22615871;23071156;21317933;21747168;22022388;21775625;21670201;21554891;21903422;17620599;19471022;21732359;22031287;22513089;22590627;23499891;23667531;12938929;21139048;21693764;21890473;21906983;22583808;22715382;22120634;17115030;22276175;15564377;21150319;21963094;22304920;23000965;23139153;23212915;22648953;22053931;22846708 1500 C9JZR2;E9PKL1;E9PKY0;E9PRE2;H0YC95;Q6RBX8 ABBA01021479;ABBA01021480;ABBA01021481;AF062317;AF062318;AF062319;AF062320;AF062321;AF062322;AF062323;AF062324;AF062325;AF062326;AF062327;AF062328;AF062329;AF062330;AF062331;AF062332;AF062333;AF062334;AF062335;AF062336;AF062337;AF062338;AF062339;AF062340;AF062341;AF062342;AF062343;AF062344;AI079200;AI088791;AK292554;AL698868;AMYH01003654;AMYH01003655;AP001931;AY505564;BC010501;BC075795;BP217375;BT007333;CH471076;CN431494;CR749275;DB090596;NG_029078;NM_001085458;NM_001085459;NM_001085460;NM_001085461;NM_001085462;NM_001085463;NM_001085464;NM_001085465;NM_001085466;NM_001085467;NM_001085468;NM_001085469;NM_001206883;NM_001206884;NM_001206885;NM_001206886;NM_001206887;NM_001206888;NM_001206889;NM_001206890;NM_001206891;NM_001331 AAC39802;AAC39803;AAC39804;AAC39805;AAC39806;AAC39807;AAC39808;AAC39809;AAC39810;AAC39811;AAC39812;AAC39813;AAC39814;AAC39815;AAC39816;AAC39817;AAC39818;AAC39819;AAC39820;AAC39821;AAC39822;AAC39823;AAC39824;AAC39825;AAC39826;AAC39827;AAC39828;AAC39829;AAH10501;AAH75795;AAP35997;AAR84236;BAF85243;CAH18130;EAW73785;EAW73786;EAW73787;EAW73788;EAW73789;EAW73790;EAW73791;EAW73792;NP_001078927;NP_001078928;NP_001078929;NP_001078930;NP_001078931;NP_001078932;NP_001078933;NP_001078934;NP_001078935;NP_001078936;NP_001078937;NP_001078938;NP_001193812;NP_001193813;NP_001193814;NP_001193815;NP_001193816;NP_001193817;NP_001193818;NP_001193819;NP_001193820;NP_001322;O60716 Hs.166011 1744367;1851887;2156883;2175199 D11S4004;GDB:451855;RH47458;STS-H97485 CAS;CTNND;KIAA0384;P120CAS;P120CTN;p120;p120(CAS);p120(CTN) OTTHUMP00000235572;OTTHUMP00000235573;OTTHUMP00000235574;OTTHUMP00000235576;OTTHUMP00000235577;OTTHUMP00000235578;OTTHUMP00000235579;OTTHUMP00000235580;OTTHUMP00000235581;OTTHUMP00000235582;OTTHUMP00000235583;OTTHUMP00000235584;OTTHUMP00000235585;OTTHUMP00000235586;OTTHUMP00000235587;OTTHUMP00000235588;OTTHUMP00000235589;OTTHUMP00000235590;OTTHUMP00000235591;OTTHUMP00000235592;OTTHUMP00000235593;OTTHUMP00000235594;OTTHUMP00000235595;OTTHUMP00000235648;OTTHUMP00000235649;OTTHUMP00000235650;OTTHUMP00000235651;OTTHUMP00000235652;OTTHUMP00000235809;cadherin-associated Src substrate;catenin delta-1;p120 catenin;p120(cas);p120(ctn) APPROVED protein-coding ENSG00000198561 2515 03026 601045 REVIEWED 733705 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009] 3 3 p21 41215946 41256943 + 41240942 41281939 + 734850;1599632;1599637;1580863;2289674;2289488;2289813;2289814;2289815;2289817;2289818;2289828;2289792;2289829;2289830;2289831;1643593;2289794;2289832;2289833;2289834;2289836;2289837;2289816;2289835;2289840;2289843;1581696;2293188;2298488;2298485;2298800;2298487;2298486;2317517;4143515;6480464;6484113;6907045;7240710 10435629;17259108;16886601;18060046;18008331;17908479;17721269;17638904;17418409;17363521;17349568;17223851;17175927;17072826;16707478;16488995;15330191;12898599;12890743;12239584;9496256;18241848;17510243;11831984;17893236;17639448;16478782;18432252;15863126;16803534;16822086;15381903;16426728;16952352;19078924 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1499 B4DGU4;C9IZ65;C9JV16;E7EMJ5;E7EV28;E9PDF9;P35222 AB062292;AB451264;AB451392;ABBA01024789;AC104307;AK095242;AK289932;AK294778;AK296790;AK299954;AK314776;AMYH01013103;AY081165;AY463360;BC058926;BX648430;CH471055;DA216720;JA780904;JN314422;NG_013302;NM_001098209;NM_001098210;NM_001904;X87838;Z19054 AAH58926;AAL89457;AAR18817;ABZ92383;AEW16366;BAB93475;BAF82621;BAG57905;BAG59368;BAG61781;BAG70078;BAG70206;CAA61107;CAA79497;CCH22596;EAW64625;EAW64626;EAW64627;EAW64628;NP_001091679;NP_001091680;NP_001895;P35222 Hs.476018 1666701;1694476;1719271;1791748;1791904;1791906;1792712;1792714;2190507;5017949;5117094;5492162 Ctnnb1;EST12H1;G42968;GDB:435507;PMC123056P1;PMC130963P1;PMC130963P2;PMC15782P1;PMC15782P2;PMC21165P1;RH123357;SHGC-30856 CTNNB;DKFZp686D02253;FLJ25606;FLJ37923;MRD19;armadillo OTTHUMP00000162082;OTTHUMP00000165222;OTTHUMP00000165223;OTTHUMP00000209288;OTTHUMP00000209289;beta-catenin;catenin beta-1 APPROVED protein-coding ENSG00000168036 2514 00286 114500;114550;116806;132600;167000;615075 REVIEWED 1347928 CTRB2 chymotrypsinogen B2 16 16 16 q23.1 59531248 59537102 - 73795495 73798573 - 75237994 75241072 - 6480464 15342556;12477932;8186414;8125298;2917002 440387 H3BMY1;H3BP92;H3BTQ4;Q6GPI1 ABBA01058125;AC009078;AK131056;AK225933;AK291822;AMYH01007818;BC073145;BP324399;CH471114;NM_001025200 AAH73145;BAF84511;EAW95661;NP_001020371;Q6GPI1 Hs.632211 1683926;1797088;5095873 CTRB1;RH65282;RH66396 OTTHUMP00000214637;chymotrypsin B2;chymotrypsinogen B2 protein-coding ENSG00000168928 2522 VALIDATED 1349342 CTS1 carpal tunnel syndrome 1 1507 2526 1602693 CTPS2 CTP synthase 2 The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X X p22 20724510 20849457 - 16516043 16640980 - 16606122 16731059 - 5133419;5132879;6480464;6907045 20739275;21378502 15772651;10899599;17081983;16189514;16179339;15489334;14702039;12477932;19615732;22863883;21252287;21139048;21693764;21890473;21988832 56474 H0Y5S6;Q9NRF8 ABBA01071437;ABBA01071438;ABBA01071439;ABBA01071440;ABBA01071441;ABBA01071442;ABBA01071443;ABBA01071444;ABBA01071445;ABBA01071446;ABBA01071447;ABBA01071448;ABBA01071449;ABBA01071450;ABBA01071451;AC073909;AF086422;AF226667;AK023549;AK024070;AK025654;AK125332;AK125348;AK309508;AL445467;AMYH01022111;BC006256;BC034986;BX647712;CH471074;DA741994;DA759070;NG_013229;NM_001144002;NM_019857;NM_175859 AAF91241;AAH06256;AAH34986;ADZ15913;BAB14607;BAB14814;BAB15204;BAG54184;BAG54188;EAW98912;EAW98913;EAW98914;EAW98915;NP_001137474;NP_062831;NP_787055;Q9NRF8 Hs.227049 1652489;1653666;1662668;1701730;1737565;1744349;1745109;2163734;5491874 CTPS2;DXS7173;GDB:1318442;GDB:451774;GDB:594585;GDB:604580;RH1707;RH66008;WIAF-2131 DKFZp686C17207;FLJ43358;MGC32997 CTP synthase 2;CTP synthase II;CTP synthetase 2;CTP synthetase isoform;CTP synthetase type 2;OTTHUMP00000022985;OTTHUMP00000022986;UTP--ammonia ligase 2;UTP-ammonia ligase;UTP-ammonia ligase 2;cytidine 5'-triphosphate synthetase 2 APPROVED protein-coding ENSG00000047230 2520 02305 300380 REVIEWED 1322315 CTPS1 CTP synthase 1 The catalytic conversion of UTP to CTP is accomplished by the enzyme cytidine-5-prime-triphosphate synthetase. The enzyme is important in the biosynthesis of phospholipids and nucleic acids, and plays a key role in cell growth, development, and tumorigenesis. The region to which the CTPS gene has been mapped is the location of breakpoints involved in several tumor types [provided by RefSeq, Jul 2008] 1 1 p34.1 41217594 41250822 + 41445007 41478235 + 1580863;5132859;5133414;2317903;6480464 19302751;12678497;12819026 16179339;17353931;2113467;7981751;17681942;17463002;17081983;16710414;16097034;15489334;15324660;15302935;12477932;10064135;8125298;3355843;1959918;1783378;21145461;21319273;18600551;20739275;22939629;21252943;22863883;16196087;17620599;22623531;15161933;18781797;21139048;21890473;21906983;21987572;22079093;21628590;22145905;22268729;22505724;22730407 1503 B4DR64;B7Z9C4;P17812 ABBA01023155;AK130549;AK225899;AK297386;AK299122;AK303797;AK304817;AL391730;AMYH01000540;BC009408;BQ642049;CH471059;NM_001905;X52142 AAH09408;BAG59827;BAG61176;BAG64752;BAH14260;CAA36386;EAX07192;EAX07193;NP_001896;P17812 Hs.473087 1664367;1670139;1766689;2142474;2219064 AL009750;CTPS__4654;D1S3355;SHGC-149972;SHGC-74644 CTPS CTP synthase 1;CTP synthetase 1;OTTHUMP00000006322;OTTHUMP00000006323;UTP--ammonia ligase 1;cytidine 5'-triphosphate synthetase;cytidine 5-prime triphosphate synthetase APPROVED protein-coding ENSG00000171793 2519 00465 123860 VALIDATED 731605 CTRB1 chymotrypsinogen B1 The protein encoded by this gene is one of a family of serine proteases that is secreted into the gastrointestinal tract as an inactive precursor, which is activated by proteolytic cleavage with trypsin. [provided by RefSeq, Oct 2011] 16 16 q23.1 73810385 73816323 + 75252884 75258822 + 1580863;2303363;6480464 1716058 2917002;15489334;14702039;12477932;10713514;8186414;6983488;2789125;2456616;2435303;2071140;511932;15012588;19844255 1504 J3QKZ2;P17538 ABBA01058126;AC009078;AK124403;AMYH01007818;AMYH01007819;AW338596;BC005385;BT007356;BX497259;CA946996;CH471114;M24400;NM_001906 AAA52128;AAH05385;AAP36020;EAW95660;NP_001897;P17538 Hs.610926 1650995;1743235;1797088;2168710;5095873 CTRB1;GDB:310448;RH66396;RH71378;STS-W60277 CTRB;FLJ42412;MGC88037 OTTHUMP00000214638 APPROVED protein-coding ENSG00000168925 2521 00345 118890 VALIDATED 1322372 CTR9 CTR9, Paf1/RNA polymerase II complex component CTR9, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and PAF1 (MIM 610506) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008] 11 11 11 p15.3 10894387 10922894 + 10729387 10757866 + 10772811 10801290 + 6480464 18551993;17911113;17081983;16964243;15632063;15489334;15302935;15231748;12477932;12421765;8636124;8590280;16307923;18469135;20541477;22863883;22939629;16024656;19345177;19136632;20178742;21726809;20305087;21139048;21890473;21906983;15923622;22451921;22532828;22053931;23000965;23667531;22797925 9646 H0YCE8;Q6PD62 ABBA01061154;ABBA01061155;AC116535;AK291794;AMYH01003391;BC014335;BC058914;CH471064;D63875;NM_014633 AAH58914;BAA09925;BAF84483;EAW68557;EAW68558;NP_055448;Q6PD62 Hs.725151 1725709;1850461;2108911;2177518;5017623;5096654 CTR9;G62052;RH25374;RH93322;SH2BP1_8969;SHGC-31621 KIAA0155;SH2BP1;TSBP;p150;p150TSP Ctr9, Paf1/RNA polymerase II complex component, homolog;OTTHUMP00000230974;RNA polymerase-associated protein CTR9 homolog;SH2 domain binding protein 1 (tetratricopeptide repeat containing);SH2 domain-binding protein 1;TPR-containing, SH2-binding phosphoprotein APPROVED protein-coding ENSG00000198730 16850 06717 609366 PROVISIONAL 1318112 CTRC chymotrypsin C (caldecrin) This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 p36.21 15637525 15645740 + 15764938 15773153 + 1580863;6480464;7240710 8635596;19404200;15489334;19407484;22539344;19096130;18172691;18059268;17592142;16710414;12477932;9538241;2365696;2093478;8718849;9635374;20625975;21098023;21323990;21460362;21631589;22427236;23135764;16979187;22379635;23430245 11330 Q68DR9;Q99895 ABBA01004711;ABBA01004712;AK289447;AL031283;AMYH01000269;BC015118;BC059779;CH471167;CR749296;NG_009253;NM_007272;S82198;Y13697 AAB47104;AAH15118;BAF82136;CAA74031;CAH18151;EAW51725;EAW51726;NP_009203;Q99895 Hs.631869 1335237;5014051;5015861;5022651;5037552;7185938 D10S16;D11S2921;D8S1735;D8S2278;D8S2279 CLCR;ELA4 OTTHUMP00000002321;caldecrin;chymotrypsin-C;elastase 4;elastase IV;serum calcium decreasing factor APPROVED protein-coding ENSG00000162438 2523 03242 167800;601405 REVIEWED 1346038 CTRL chymotrypsin-like 16 16 16 q22.1 52471930 52474222 - 66520974 66523266 - 67963473 67965778 - 1580863;6480464 9065485;19126871;15489334;12477932;12231569;8812482;8268911;8267879;8125298;19494363;17207965 1506 I3L162;I3NI28;P40313 ABBA01025467;AC040162;AK223172;AMYH01007754;BC039716;BC063475;CH471092;NM_001907;X71874;X71877 AAH39716;AAH63475;ADQ32564;BAD96892;CAA50710;CAA50711;EAW83188;EAW83189;NP_001898;P40313 Hs.654546 2110345;2131189;2170436 CTRL_8289;D16S2961;SHGC-63628 CTRL1;MGC70821 OTTHUMP00000174857;chymotrypsin-like protease CTRL-1 protein-coding 2524 00344 118888 VALIDATED 736291 CTSC cathepsin C The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q14.2 87666408 87710586 - 88026760 88070941 - 1599638;1599639;1599640;1599645;1599651;1599652;1599653;1580863;6480464;7240710 10593994;16127739;12843783;3705543;657443;148980;843913 9092576;7665576;18841559;18809751;18307834;18294227;17976006;17943190;17652201;17535802;17020538;16381901;15991336;15985311;15585850;15489336;15146197;15111626;15108292;14974080;12857359;12809647;12477932;12358155;12139965;12137938;12112662;12083812;12080079;11914041;11886537;11726493;11327826;11230166;11180601;11180012;11158173;11106356;11076863;11015218;10756096;10662808;10662807;10581027;9507095;9272739;8125298;7649281;1586157;20236208;20797317;19816003;16712791;20359428;22532132;22863883;21742978;21139048;21393975;8811434;22939629;23311634;22928782;23108224 1075 H0YCY8;H0YDA2;Q7Z3G7 AA011305;ABBA01011536;AC011088;AF234263;AF234264;AF254757;AF525032;AF525033;AI821972;AK223038;AK292117;AK296190;AK311923;AMYH01003863;AU076460;BC023559;BC054028;BC100891;BC100892;BC100893;BC100894;BC107770;BC109386;BC110071;BC113850;BC113897;BM997817;BX459226;BX537913;CB114425;CH471185;CN368896;NG_007952;NM_001114173;NM_001814;NM_148170;U79415;X87212 AAC51341;AAH54028;AAI00892;AAI00893;AAI00894;AAI00895;AAI09387;AAI10072;AAI13851;AAI13898;AAI46693;AAL48191;AAL48192;AAL48195;AAQ08887;AAQ08888;BAD96758;BAF84806;BAG34864;BAG58920;CAA60671;CAD97897;CAL38498;EAW59363;EAW59364;NP_001107645;NP_001805;NP_680475;P53634 Hs.128065 1648995;1668996;1681119;1795638;1858376;2161687;5094040 A001U42;CTSC_21;G33071;RH92667;SHGC-56741;STS-X87212;WI-17078 CPPI;DPP-I;DPP1;DPPI;HMS;JP;JPD;PALS;PDON1;PLS DPP-I;OTTHUMP00000235623;OTTHUMP00000235624;OTTHUMP00000235625;OTTHUMP00000235627;cathepsin J;dipeptidyl peptidase 1;dipeptidyl peptidase I;dipeptidyl transferase;dipeptidyl-peptidase I APPROVED protein-coding ENSG00000109861 2528 03841 170650;245000;245010;602365 REVIEWED 736046 CTSE cathepsin E The protein encoded by this gene is a gastric aspartyl protease that functions as a disulfide-linked homodimer. This protease, which is a member of the peptidase C1 family, has a specificity similar to that of pepsin A and cathepsin D. It is an intracellular proteinase that does not appear to be involved in the digestion of dietary protein and is found in highest concentration in the surface of epithelial mucus-producing cells of the stomach. It is the first aspartic proteinase expressed in the fetal stomach and is found in more than half of gastric cancers. It appears, therefore, to be an oncofetal antigen. Transcript variants utilizing alternative polyadenylation signals and two transcript variants encoding different isoforms exist for this gene. [provided by RefSeq, Jul 2008] 1 1 q31 204484082 204498727 + 206317459 206332104 + 6480464 7789521;8765029;2674141;7983070;19172291;18996084;18006832;17947645;17888866;15845357;15699105;15489334;15342244;14769879;12843568;12631277;12531480;12477932;11337467;11322887;9502222;8759606;8491674;8346912;2369841;2334440;2226872;1959628;1794985;1370478;195962;8457383;16169070;20600629;21664991;22718633;22068166 1510 B4DNU8;J3KP48;P14091 ABBA01001848;AJ250716;AJ250717;AK292057;AK298069;AMYH01025388;AU100136;BC042537;BX571818;CH471067;J05036;M84424;NG_029664;NM_001910;NM_148964 AAA52130;AAA52300;AAH42537;ADZ15636;BAF84746;BAG60360;CAB82849;CAB82850;EAW91592;EAW91593;NP_001901;NP_683865;P14091 Hs.644082 1657380;1692788;1701652;1705872;1773491;2107977;2150581 AL033753;CTSE_571;D1S3200;G15897;RH104483;SHGC-76246;SHGC-81197 CATE OTTHUMP00000034345;OTTHUMP00000034346;cathepsin E;erythrocyte membrane aspartic proteinase;slow-moving proteinase APPROVED protein-coding ENSG00000196188 2530 00294 116890 REVIEWED 1342646 CTSJ cathepsin J 337936 AF136272 13263 1317809 CTSF cathepsin F Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008] 11 11 q13 66087511 66092623 - 66330935 66336047 - 1580863;6480464 16751776;9822672;16963053;15989693;15489334;15184381;12477932;10876093;10748235;10661872;10362521;10318784;10198209;19416921;19913121;20628086;21926972 8722 E9PSC2;H0YD65;H0YE42;Q9UBX1 ABBA01024074;AF071748;AF071749;AF088886;AF132894;AF136279;AJ007331;AK313657;AL137742;AMYH01003735;AP002748;BC011682;BC013359;BC036451;CH471076;CR541680;DQ579017;NG_032973;NM_003793 AAC78838;AAC78839;AAD26616;AAD41790;AAF13146;AAH11682;AAH36451;ABM84171;BAG36411;CAB42883;CAB70900;CAG46481;EAW74547;EAW74548;NP_003784;Q9UBX1 Hs.11590 1712324;1742493;1769819;2161911;2171229;2172980;2189453;2217214 ACTN3;CTSF_3100;G54071;GDB:197568;MARC_6499-6500:992007251:1;RH47283;STS-M86407;STS-W72567 CATSF;CLN13 OTTHUMP00000235116;OTTHUMP00000235118;cathepsin F APPROVED protein-coding ENSG00000174080 2531 04643 603539 REVIEWED 1319205 CTSA cathepsin A This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.1 43952998 43960866 + 44519591 44527459 + 1599169;1580863;6480464;6907045;7240710 8514852 3136930;16538002;16344560;16263699;15785934;15489334;14718574;14702039;12665801;12649068;12505983;12477932;11780052;10944848;10207930;9636645;9603439;9501080;9105659;8968752;8910459;1387645;8591035;3107551;17353931;8198123;8068159;8053688;6796775;6418007;3922758;3149149;3102233;3084261;2244901;2148053;2071143;1907800;1907282;1756715;1694176;1605251;22532132;19666471;19954752;18029348;22939629;22863883;21139048;21890473 5476 B4E324;P10619;Q5JZG9;Q5JZH0 AB209705;ABBA01052670;AF086236;AF491871;AK055177;AK097786;AK172808;AK304536;AK307701;AK312898;AL008726;AMYH01011939;BC000597;BC093009;CH471077;DA029446;M22960;NG_008291;NM_000308;NM_001127695;NM_001167594 AAA36476;AAH00597;AAH93009;AAM09560;ABM82861;ABM86048;BAD92942;BAG35745;BAG65336;EAW75788;EAW75789;NP_000299;NP_001121167;NP_001161066;P10619 Hs.609336 1669052;1682095;1745931;1775941;2139751;2140703;5015859;5022200;5022578;5022588;5022651;5118444 Cda16d10;D11S2921;D11S3316;D1S1423;D20S1030;D5S1597E;G64282;GDB:193197;L18426;RH66081;RH93427;STS-M22960 GLB2;GSL;NGBE;PPCA;PPGB OTTHUMP00000031778;OTTHUMP00000031780;OTTHUMP00000031781;beta-galactosidase 2;beta-galactosidase protective protein;carboxypeptidase C;carboxypeptidase L;carboxypeptidase Y-like kininase;carboxypeptidase-L;deamidase;lysosomal carboxypeptidase A;lysosomal protective protein;protective protein cathepsin A;protective protein for beta-galactosidase (galactosialidosis);urinary kininase APPROVED protein-coding ENSG00000064601 9251 02020 256540;613111 REVIEWED 734437 CTSB cathepsin B The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer disease, the most common cause of dementia. Overexpression of the encoded protein, which is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma and other tumors. At least five transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 p22 11737442 11763055 - 11700033 11725646 - 734853;734852;1580863;2315501;2315508;2315510;2315521;2315524;2315571;2315615;2315504;2315515;2315534;2315605;2306495;2315520;2315527;2315528;2315726;2315502;2315513;2315516;2315523;2315531;2315517;2315506;1342442;5687152;6480464;5686870;5686392;5686395;5686877;5686873;5686394;6907045 9770500;1645961;19958779;18775855;18638529;17195213;19664906;18404379;15183956;19696938;17898873;7873730;15641152;18635848;17287256;19367387;18706099;19023196;19941836;18452148;17850215;9508185;10393385;17723883;18938146;15179208;12213722;22213084;17086443;11134381;19640986;21802389;12589965 21323990;3463996;16130169;19414800;19331819;19040356;19004543;18949742;18760860;18714186;18598236;18566436;18566385;18543249;18314113;18296264;18163891;17991740;17990360;17982689;17726009;17724614;17519890;17507477;17504810;17081065;17064696;16914553;16913838;16894574;16733801;16709808;16534247;16492714;16381007;16364318;16315320;16303743;16077201;16051222;16034129;15832773;15831716;15816632;15807897;15799821;15710602;15679122;15512772;15489334;15274632;15262981;15255544;15122332;15100281;15016552;14984956;14730346;18472965;14729603;14702039;18515357;14503883;8112600;8014475;7890620;7718586;7622042;7509303;6351842;3972105;3542996;3010323;2476070;2061332;1996959;1984484;1900515;1868826;1637335;1597471;1577456;1326552;417724;11162551;16169070;12893746;12887051;12726991;12677446;12643545;12581740;12477932;12437120;12437117;12201820;12186841;12185082;12102727;12086583;12072442;12057992;11932257;11815600;11746262;11514663;11513559;11435427;11241311;11228542;11139332;11134363;11115496;11016923;10876156;10849756;10777578;10512713;10395917;10353845;9928950;9776083;9733783;9632704;9585570;9582368;9539769;9412840;9360997;9299326;12926111;9295331;9076588;8635854;8617355;22745374;20180636;20302512;19913121;20628086;18616803;18718938;19434518;19454696;19615732;19661440;19692168;19700239;19915865;19930869;20008285;20042316;6203523;8083219;20563251;20567828;22287159;20536394;20699092;20424577;20661471;20833970;21060833;20880494;21112096;21199580;20930303;21835790;20627011;21092200;22695494;19774387;21508263;21541353;21250859;21562164;23024364;21585286;21832049;22732093;22851129;22939629;21742978;15614436;1837142;21948970;8811434;21945151;22262857;19811804;21600167;21880013;21850018;21900206;20584670;22278224;22464443;21139048;21890473;22118674;22467319;22384200;21925292;22127599;22266111;21967108;22222211;21840777;22209964;22693552;23063511;23222509;18029348;22949512;23219593;23222817;11536009;20706999;22190034;22571763;23195957;23349634;23189279;12189154;23667900;22322590;22138708;22782900 1508 E9PCB3;E9PHZ5;E9PID0;E9PIS1;E9PJ67;E9PKQ7;E9PKX0;E9PL32;E9PLY3;E9PNL5;E9PQM1;E9PR00;E9PR54;E9PS78;E9PSG5;P07858;R4GMQ5 ABBA01026877;AC025857;AC069185;AK075393;AK092070;AK097384;AK130184;AK290239;AK296845;AK297687;AL543654;AMYH01018482;AMYH01018483;AY082426;AY082427;BC010240;BC095408;BG770805;BM008741;BX647765;BX647952;BX648239;CB997355;CH471157;L16510;L38712;M13230;M14221;NG_009217;NM_001908;NM_147780;NM_147781;NM_147782;NM_147783;Y18460 AAA52125;AAA52129;AAC37547;AAH10240;AAH95408;AAL99368;AAL99369;BAF82928;BAG52127;BAG52477;BAG53460;BAG59411;BAG60046;CAA77178;CAI46053;EAW65630;EAW65631;EAW65632;EAW65633;EAW65634;EAW65635;EAW65636;NP_001899;NP_680090;NP_680091;NP_680092;NP_680093;P07858 Hs.520898 1686204;1698304;1699808;1712070;1725817;1728949;1795636;1848366;2132950;2150411;2157708;2162643;5015861;5016478;5022450;5022463;5022578;5022651;5024039;5037552;5109281;7185938 CTSB_430;D10Bir17;D10S16;D10S275;D11S2921;D16S325;D1S1423;D1S1425;D3S1673;D8S1946;D8S2052;D8S2279;G54083;G61996;GDB:434012;RH102692;RH103511;RH11588;RH75619;SHGC-58122;STS-M14221 APPS;CPSB APP secretase;OTTHUMP00000116009;OTTHUMP00000229510;OTTHUMP00000229511;OTTHUMP00000229512;OTTHUMP00000229514;OTTHUMP00000229515;OTTHUMP00000229516;amyloid precursor protein secretase;cathepsin B;cathepsin B1;cysteine protease APPROVED protein-coding ENSG00000164733 2527 00287 116810 REVIEWED 1343958 CTSLP1 cathepsin L pseudogene 1 10 10 10 q23.2 75620584 75624441 - 89133045 89141033 - 89146118 89149969 - 7713509 118945 AL355334;AMYH01002924;L07772;NG_009858 CTSLL;CTSLL1 APPROVED pseudo 2539 INFERRED 1351014 CTSD cathepsin D This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008] 11 11 p15.5 1730561 1741798 - 1773982 1785222 - 1358532;1358533;1580863;1643198;5687152;6480464;6484113;6907045;7240710 11304834;15907478;17665967;12213722 19221643;19115690;19109932;19061927;18977241;18830724;18702517;18566385;18566016;18559512;18494001;18431031;18426579;18396902;18387691;18367545;18307033;18296260;18248894;18202773;18177262;17875703;17601350;17532541;17395004;17340625;17289576;17284061;17188016;17176069;17112520;17081065;17032648;16850161;16784755;16709808;16685649;16652347;16608402;16543533;16417614;16396496;16354654;16335952;16331270;16263712;16263699;16127101;16081416;16046058;15896324;15862967;15843343;15739123;15668295;15489334;15318816;15258139;15211070;15211064;15192082;15168727;15158911;15081423;15003956;14767531;14702039;12970159;12826741;12811635;12782632;12782337;12754519;12651610;12643545;12556904;12477932;12185597;12151789;12147324;12140763;12083803;12011767;11906282;11840502;11786931;11780226;11779865;11687971;11581410;11436125;11341921;11264868;11258665;11095076;10986284;10931940;10876156;10849758;10748089;10716266;10605825;10508159;10504270;9731700;9275067;9076588;8943232;8930981;8671230;8467789;8419924;8393577;8262386;8106429;7935485;7657720;7547509;7523115;6236213;3988746;3665421;3588310;3261170;2736531;2180427;2069717;2013314;1939080;1883350;1734961;1522590;938470;10623764;15989967;3927292;14718574;19487283;19383337;22081071;22528489;22542809;21145461;22302483;20430722;19913121;20597865;20628086;19494521;19571726;19802014;19828951;19854241;19919557;19926167;19950226;20071328;20083556;20125193;19203374;21298030;16341674;20666745;11198280;20385381;20855565;20926008;20666480;21148553;20826454;8889548;23250759;21674799;22939629;22964611;22990118;22476353;20399529;21315176;21470957;21800051;21311773;21632707;19723497;20000738;21709160;21789704;22627201;22824147;21948970;22244896;22399610;1837142;21533003;23065739;18624398;21139048;21890473;21906983;22118674;20301601;22816225;22439866;22623531;23107604;23455922;19805454;22898924;22949512;23219593;22996917;23499937;22388353;23042275;17670831;19939935;21909273;22190034 1509 C9JH19;F8W787;F8WD96;H7C1V0;P07339 ABBA01012158;AC068580;AK130178;AMYH01003315;BC001574;BC016320;BM762986;BM976200;BT006910;BT020155;CH471158;CR456947;L12980;M11233;M63138;NG_008655;NM_001909;S52557;S74689;X05344 AAA16314;AAA51922;AAB59529;AAD13868;AAD14156;AAH16320;AAP35556;AAV38957;ABM84473;ABM84804;CAA28955;CAG33228;EAX02461;EAX02462;EAX02463;NP_001900;P07339 Hs.654447 1798912;1799002;1799496;1800096;1800194;1800556;1800920;1800974;1810490;1812522;1813104;1843470;1980544;1980546;1980548;1980550;1980552;1980554;1980556;1980558;1980560;1980562;1980564;1980566;1980568;1980570;1980572;1980574;1980576;1980578;1980580;1980582;1980584;1980586;1980588;1980590;1980592;1980594;1980596;1980598;1980600;1980602;1980604;1980606;1980608;1980610;1980612;1980614;1980616;1980618;1980620;1980622;1980624;1980626;1980628;1980630;1980632;1980634;2118647;2167078;2190877;2216362;2216364;2216366;2216368 CTSD;ECD00297;ECD00346;ECD00599;ECD00904;ECD00954;ECD01139;ECD01325;ECD01352;ECD06238;ECD07271;ECD07571;ECD22944;MARC_10183-10184:1004371792:5;REN61163;REN61164;REN61165;REN61166;REN61167;REN61168;REN61169;REN61170;REN61171;REN61172;REN61173;REN61174;REN61175;REN61176;REN61177;REN61178;REN61179;REN61180;REN61181;REN61182;REN61183;REN61184;REN61185;REN61186;REN61187;REN61188;REN61189;REN61190;REN61191;REN61192;REN61193;REN61194;REN61195;REN61196;REN61197;REN61198;REN61199;REN61200;REN61203;REN61204;REN61205;REN61206;REN61207;REN61208;REN61209;REN61210;STS-M63138;stSG548467;stSG548468;stSG548469;stSG548470 CLN10;CPSD;MGC2311 OTTHUMP00000042282;OTTHUMP00000196039;OTTHUMP00000198692;cathepsin D;cathepsin d (lysosomal aspartyl protease);ceroid-lipofuscinosis, neuronal 10;lysosomal aspartyl peptidase;lysosomal aspartyl protease APPROVED protein-coding ENSG00000117984 2529 00291 116840;610127 REVIEWED 1317010 CTSG cathepsin G The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008] 14 14 q11.2 24112564 24115306 - 25042724 25045466 - 1580863;6480464;6907045;7242055 17322378 11961105;8194606;2569462;19528350;19250736;19056482;19036358;18835135;18586676;18217133;17653609;17418861;16977463;16444434;16317101;16034099;15967795;15650747;15489334;15385470;15140022;15131125;15100291;14737102;14688365;12784398;12531874;12524437;12504904;12477932;11986950;11945165;11928814;11920276;11747312;11557685;11536009;11520793;11520773;11389039;11307827;11259672;11241273;10978167;10899625;10512690;9718313;9698370;9565572;9536127;9412840;9337538;8896442;8849841;8454293;8408036;8400294;8125298;8090757;7936190;7593196;7517206;6294088;3911778;3799965;3304423;2681419;2616953;11502364;2318847;2501794;2164060;1873479;1861080;1452887;1387511;20331476;19913121;20628086;22588119;11907569;19578796;19620298;19910052;20056178;20589323;20800603;21193413;21543057;21488974;21850236;22915586;22145905;15123239;22641217;23147993 1511 P08311 ABBA01061345;AI272833;AK225914;AL136018;AMYH01005614;BC014460;CH471078;CR456807;CR541704;J04990;M16117;NM_001911 AAA51919;AAA52126;AAH14460;ABM83993;ABM87319;CAG33088;CAG46505;EAW66006;NP_001902;P08311 Hs.421724 1685299;1741109;1791752;1793666;1853992;2128548 GDB:177812;PMC123164P2;PMC24673P1;RH68974;RH69752;RH71371 CATG;CG;MGC23078 OTTHUMP00000178752;cathepsin G APPROVED protein-coding ENSG00000100448 2532 00289 116830 REVIEWED 1349396 CTSLP4 cathepsin L pseudogene 4 10 10 10 q11.23 75617531 75624432 - 52131770 52139770 - 52464418 52468675 - 19663681 644496 AL589794;AMYH01002733;NG_021158 CTSLL4;bA564C4.3 APPROVED pseudo 23645 INFERRED 3563914 CTSLP3 cathepsin L pseudogene 3 10 10 q11.22 48600505 48601279 - 48980297 48981273 - 7713509 644021 AL731733;AMYH01002577;NG_016830 CTSLL3 APPROVED pseudo 2541 INFERRED 1346453 CTSLP2 cathepsin L pseudogene 2 10 10 q11.22 47772068 47779668 + 48155943 48158691 + 7713509 1517 AK309109;AMYH01002428;BX547991;L25628;NR_033407 Hs.568350 CTSLL2;FLJ99150 APPROVED pseudo 2540 VALIDATED 1346149 CTSLP5 cathepsin L pseudogene 5 10 10 q11.22 46195423 46211518 - 46775417 46791512 - 643587 AL603982;NG_006122 CTSLL5;bA342C24.4 APPROVED pseudo 23580 INFERRED 1342791 CTSLP6 cathepsin L pseudogene 6 10 10 10 q22.3 75620628 75624432 - 81619829 81624732 - 81629807 81633668 - 6480464 15164054 642413 AL512662;AMYH01002879;NG_021157 CTSLL6;bA479O17.1 APPROVED pseudo 23611 INFERRED 1349560 CTSM cathepsin M 337937 AY014777 13264 1354146 CTSLP7 cathepsin L pseudogene 7 10 10 q11.22 46676224 46693493 - 47270681 47273487 - 100133189 AL391137;AMYH01002489;NG_021156 CTSLL7;bA144G6.6 APPROVED pseudo 23635 INFERRED 1353735 CTSQ cathepsin Q 632504 10673370 337942 AF187323 13783 1345891 CTSR cathepsin R 337990 AK005429 19202 1352873 CTSLP8 cathepsin L pseudogene 8 9 9 9 q22.1 61029938 61032613 + 89648888 89652055 + 90459660 90462339 + 6480464 7713509;15164054;16344560 1518 ABBA01016329;AL772337;AMYH01021479;DA786334;L25629;NR_033405 Hs.726015;Hs.737712 APPROVED pseudo 39084 VALIDATED 1604146 CTSL3P cathepsin L family member 3, pseudogene 9 9 9 q21.33 60958324 60972282 + 89577650 89591619 + 90387830 90401799 + 12477932;19663681 392360 Q5NE16 ABBA01016328;AJ851862;AL160279;AMYH01021479;CH471089;NR_027917 AAI60188;CAH65460;EAW62737;Q5NE16 Hs.690450 CTSL3;HCTSL-s APPROVED pseudo ENSG00000188029 33132 18619 VALIDATED 735454 CTSH cathepsin H The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. [provided by RefSeq, Mar 2010] 15 15 q25.1 77001147 77024475 - 79214092 79237420 - 2315615;5686392;6480464;5686391;5686393;1549417;5686394 15183956;17086443;17583678;7561949;8640738;12589965 2849458;6203523;19073967;18978792;18977241;18949742;18676680;18216060;17601350;15646835;15489334;14766755;14662023;14515996;12615673;12581647;12477932;12203716;12034564;11796715;11514663;11136537;11134363;10395917;9076588;7821789;6184075;3342889;2588347;2587265;2486008;19913121;20628086;20647273;17500053;18029348;19170196;19404922;19430480;19625176;19692168;20203524;20881085;21217776;22704610;15127951;15196205;16822283;21890473;8811434;9050938;21771265;23204516;1837142 1512 E9PKT6;E9PN60;E9PN84;P09668 ABBA01060598;AC011944;AF426247;AF426248;AI057198;AK026152;AK130158;AK309491;AK314698;AL110099;AMYH01006842;AMYH01006843;AMYH01006844;BC002479;BC018821;BG775606;CH471136;CR456881;CR749582;D28436;NG_009614;NM_004390;X07549;X16832;Y18461 AAH02479;AAL23961;AAL23962;ABM81609;ABM84698;BAA05802;BAG37247;CAA30428;CAA30429;CAA34734;CAA77179;CAG33162;CAH18374;EAW99143;NP_004381;P09668 Hs.148641 1649647;1668236;1699870;1712092;2159414;2217216;5095185 CTSH,_C.1-1T>G;CTSH_2814;D15S1349;D2S2841;G54095;RH103543;STS-X16832 ACC-4;ACC-5;CPSB;DKFZp686B24257;MGC1519;minichain N-benzoylarginine-beta-naphthylamide hydrolase;OTTHUMP00000185564;aleurain;cathepsin B3;cathepsin BA;cathepsin H;pro-cathepsin H APPROVED protein-coding 2535 00288 116820 REVIEWED 734172 CTSK cathepsin K The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013] 1 1 q21 149035311 149047436 - 150768684 150780917 - 1342442;734856;1601025;1580863;6480464;2306495;5686911;6907045;7240710 15179208;10469835;15353610;18635848;17551020 18053985;17991740;17882010;17728092;17683065;17397052;17230547;17227755;16946716;16912123;16831915;16774752;16354158;16344560;16337236;15929988;15878337;15837295;15826870;15797245;15737607;15489334;15304486;15161653;14753734;14684825;14645229;12887056;12652657;12568399;12504904;12492488;12477932;9143502;17889653;7818555;19453261;19433310;19428782;19371798;19338743;19194656;19060845;18979635;18949742;18765527;18692071;18664521;18664495;18511517;18368130;18163891;12125807;12081494;12039963;11733367;10878663;10849755;10719280;10491211;10048321;9893980;9548757;9529353;9405598;9276160;9143491;9033587;9028530;8938428;8703060;8647860;8585423;7929457;7805878;7576232;7492318;16169070;22562303;22569910;19913121;20628086;20628624;19396149;19446361;19469903;19674475;19700761;19750481;19800993;19886543;20430722;20450492;20727023;20305575;21086906;17207965;20837372;21715684;21756348;21099701;21602817;21983785;22569264;21880134;21874011;22990118;23326535;23152410;23529168;22614014;22974233;23355199;20494937;22730330;20869948 1513 P43235;Q5QP40 ABBA01049354;AK130134;AK308229;AK312880;AL355860;AL356292;AMYH01001383;AU118043;AU119985;AW631268;AY429530;BC016058;CH471121;CR541675;CR541719;DA251123;NG_011848;NM_000396;S79895;U13665;U20280 AAA65233;AAA95998;AAB35521;AAH16058;ADQ31724;CAG46476;CAG46520;EAW53515;EAW53516;NP_000387;P43235 Hs.632466 1666356;1795640;1852554;2113680;2152688;2168915;5123700 CTSK;CTSK_1244;D1S3284;RH18001;WI-12245;WI-16757;WI-9390 CTS02;CTSO;CTSO1;CTSO2;MGC23107;PKND;PYCD OTTHUMP00000032938;cathepsin K;cathepsin O;cathepsin O1;cathepsin O2;cathepsin X APPROVED protein-coding ENSG00000143387 2536 03064 265800;601105 REVIEWED 736036 CTSL cathepsin L The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 q21.33 89530794 89536204 + 90340974 90346384 + 1580863;2315546;2315571;2315576;2315597;2315622;2315625;2315605;1304337;1641826;2315595;2315726;2315588;2315547;2315555;2315524;1342442;5686392;6480464;5686877;5687152;5686873;5686870;6907045 19805911;18404379;16928772;15694131;19074676;12941783;15641152;15197181;14718385;15758467;19023196;16365386;19777444;19096818;19664906;15179208;17086443;19640986;12213722;21802389;22213084 8419312;17889653;14718574;19550400;19291794;18971274;18658137;18619973;18616803;18495127;18450756;18366346;18221013;18163891;17928356;17643114;17574778;17561110;17519890;17227755;16918298;16913838;16740135;16565075;16433682;16354158;16335952;16303743;15982660;15832773;15816632;15665831;15512772;15498563;15489334;15454886;15318816;15255544;15100281;15099520;14702039;12926111;12921779;12818188;19005484;12809493;12754519;12748383;12504904;12492488;12477932;12437119;12437117;12137950;11978977;11801256;11777924;11517935;11514663;11435427;11327826;11278902;10849756;10716919;10428479;10395917;10218831;10022822;9918848;9837884;9733783;9632704;9585570;9548757;9468501;9141479;9076588;8896443;8889548;8666891;7340337;3550705;3545185;11771045;11767948;3490478;3421948;3342889;2835398;2275556;1939080;1551416;116880;21775114;23337117;19663777;20302512;19915865;19924101;19958782;19959474;20075068;21134415;20926012;20881085;20567828;20497254;19270352;20837372;20347002;21226994;17192395;20524145;22695494;22871890;23106098;21700710;21555518;21308479;21395501;21501115;21880013;21750527;21585286;21715684;21742978;21029616;21562164;14511383;21484410;15196205;18624398;21769426;21896479;21900206;8811434;22031933;21496199;21756348;21965756;21906983;23536651;21925292;22281037;22674323;22451661;21967108;22222211;21898833;22365146;22963824;23063511;15174051;21382349;21988832;22571763;1837142;23009386;19939935 1514 P07711;Q5T8F0;Q9HBQ7 ABBA01016328;AF217997;AF304301;AF467444;AK055599;AK075100;AL160279;AL832167;AMYH01021479;AW270438;BC012612;BC142983;BI824449;BI829385;BM680778;BX537395;BX647101;BX647102;BX647413;BX647434;BX647435;BX648848;BX648849;BX649140;CB963086;CH471089;CR457053;DN993009;GN344049;GN344051;M20496;NM_001257971;NM_001257972;NM_001257973;NM_001912;NM_145918;X05256;X12451;Y18462 AAA66974;AAG17239;AAH12612;AAI42984;AAM89516;AAQ05021;ABM83856;ABM87178;BAG52066;CAA28877;CAA30981;CAA77180;CAD97637;CAG33334;CAY55960;CAY55961;EAW62731;EAW62732;EAW62733;EAW62734;EAW62735;EAW62736;NP_001244900;NP_001244901;NP_001244902;NP_001903;NP_666023;P07711 Hs.731507 1744365;1745107;1792952;2186371 D9S1706;GDB:451830;GDB:594510;PMC171390P2 CATL;CTSL;CTSL1;FLJ31037;MEP OTTHUMP00000021601;OTTHUMP00000021602;cathepsin L1;major excreted protein APPROVED protein-coding ENSG00000135047 2537 00293 116880 REVIEWED 1343138 CTSO cathepsin O The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008] 4 4 4 q32.1 154176850 154206621 - 157064720 157094498 - 156845270 156875048 - 1580863;6480464 7929457;18029348;15489334;12477932;9790772;7805878;19786962;17207965;22889411;23009386 1519 P43234 ABBA01070178;ABBA01070179;AC093830;AC216823;AK300112;AK308323;AK312354;AMYH01014637;BC049206;BG617165;BI834113;BQ006443;CH471056;NM_001334;X77383 AAH49206;ADQ33131;BAG61907;CAA54562;EAX04883;NP_001325;P43234 Hs.75262 1660812;1661661;1720487;1725765;1748467;1772720;1854167;2178037;2217220 CTSO_3199;D4S3104;G59197;G62128;SHGC-23475;SHGC-54139;SHGC-67696;SHGC-67842;STS-X77383 CTSO1 OTTHUMP00000220879;cathepsin O APPROVED protein-coding ENSG00000256043 2542 02772 600550 REVIEWED 1350928 CTSS cathepsin S The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may participate in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The encoded protein can function as an elastase over a broad pH range in alveolar macrophages. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 q21 148969175 149004929 - 150702672 150738433 - 1580863;5686910;5686913;5686916;2306495;2303423;5686914;5687152;5686877;5686870;5686873;5687151;5687149;5686878;5686912;5686911;5686915;5687146;6480464;6907045 17997037;12368333;21228734;18635848;16344894;7717452;12213722;19640986;22213084;21802389;9691094;16631730;18700000;17539023;17551020;21439785;21143385 1373132;8157683;18029348;14718574;19487544;19336475;19104823;19101991;18977241;18957408;18565099;18410260;17878156;17622942;17601350;17227755;17075137;16839849;16825321;16710414;16550604;16410454;16394095;16354158;16338279;16140306;15489334;14966190;12819022;12748383;12742663;12643447;12477932;12437117;12164923;11884425;11856830;11710834;11435427;11241311;11134363;11115496;10852705;10721671;10395917;9876921;9548757;9545324;9524075;9164868;9143502;9099979;9076588;8706894;8083219;7890620;7575468;2044774;1377692;21223957;20180636;21094118;19913121;20356901;20628086;19404922;19553543;19593952;19700239;20164293;21315176;19849712;20881085;20045715;21038029;22796222;20880494;21112096;21250859;21585286;21878432;15196205;21896479;21989182;21756348;22101325;21967108;22365146;22424724;22923671;22571763;22730330;22952693;19939935;22761382;22844403;22844527 1520 P25774 ABBA01049354;AK024855;AK226095;AK301472;AK314482;AL356292;AMYH01001382;BC002642;BQ006623;CH471121;CR541676;M86553;M90696;NM_001199739;NM_004079;S93414;U07369;U07370;U07371;U07372;U07373;U07374 AAA35655;AAB22005;AAB60643;AAC37592;AAH02642;BAG37086;BAG62991;CAG46477;EAW53517;EAW53518;EAW53519;NP_001186668;NP_004070;P25774 Hs.181301 1650475;1674881;1676232;1692572;1714363;1795642;1849957;2170725 AL034054;CTSS_573;RH119963;RH44919;RH68555;RH80467;SHGC-35262;WI-18164 FLJ50259;MGC3886 OTTHUMP00000032942;cathepsin S APPROVED protein-coding ENSG00000163131 2545 00292 116845 REVIEWED 1344069 CTSV cathepsin V The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011] 9 9 q22.2 98834758 98841360 - 99791959 99801925 - 1580863;6480464 9563472;17889653;18163891;17869649;17516850;16565075;15679121;15489334;15192101;15164053;12925692;12648222;12477932;11027133;10382972;10029531;9727401;20536394;20347002;22967898;21139048;22452389;22393040;22562303;23287360;19939935 1515 B2R717;O60911 AB001928;AB019534;ABBA01042939;AF070448;AK310645;AK310740;AK312806;AL445670;AMYH01021550;AW444458;AY358641;BC023504;BC110512;CH471105;CS265690;NM_001201575;NM_001333;Y14734 AAC23598;AAH23504;AAI10513;AAQ89004;BAA25909;BAA34365;BAG35664;CAA75029;CAJ78377;EAW58831;EAW58832;NP_001188504;NP_001324;O60911 Hs.610096 1679868;1792778;1792950;2217218 CTSL2_2905;PMC164504P1;PMC171390P1;RH98349 CATL2;CTSU;CTSV;MGC125957 OTTHUMP00000021738;cathepsin L2;cathepsin L2, preproprotein;cathepsin U;cathepsin V APPROVED protein-coding 2538 04495 603308 REVIEWED 1319657 CTSW cathepsin W The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008] 11 11 q13.1 65403860 65407788 + 65647284 65651212 + 1580863;6480464 22050231;9823953;19100676;15489334;15358123;15340161;12477932;12437118;11490002;10849754;10716634;10362521;9675123;9108299;20639865;23128233 1521 E9PI30;H0YDT2;P56202 ABBA01024098;AF013611;AF015954;AF055903;AMYH01003727;AP001201;BC035637;BC048255;BI833187;BM996548;CH471076;NM_001335 AAB82449;AAB82457;AAC32181;AAH48255;EAW74463;EAW74464;NP_001326;P56202 Hs.416848 LYPN OTTHUMP00000233962;OTTHUMP00000233963;cathepsin W;lymphopain APPROVED protein-coding ENSG00000172543 2546 03840 602364 REVIEWED 1351200 CTXN2 cortexin 2 15 q21.1 48483867 48495951 + 6480464 16572171 399697 P0C2S0 ABBA01039141;AC066612;AMYH01006628;BK004876;BX537772;NM_001145668 NP_001139140;P0C2S0 Hs.721408 cortexin-2 protein-coding ENSG00000233932 31109 VALIDATED 1352898 CTSZ cathepsin Z The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008] 20 20 q13.32 57003635 57015697 - 57570242 57582309 - 1580863;5686878;6480464 18700000 21354459;9642240;11256614;18977241;18420963;17601350;17065156;16381901;15680921;15489336;15489334;12477932;11780052;11076863;11030415;10760573;10745011;10656802;10653163;10653162;9738465;21454358;21616554;21310951;21368909;22451661;21139048;21966391;21963094;23128233;22139419;22632162 1522 Q5U000;Q9UBR2 ABBA01005967;AF009923;AF073890;AF136273;AF136274;AF136275;AF136276;AK310046;AK314931;AL109840;AMYH01012024;BC025419;BC042168;BT019915;CH471077;NG_023300;NM_001336 AAC61477;AAC63141;AAF13145;AAF13148;AAH42168;AAV38718;BAG37437;CAL37546;EAW75448;EAW75449;EAW75450;NP_001327;Q9UBR2 Hs.252549 1725649;1797446;2117088;2140488;2150856 A004R34;CTSZ_1953;G62034;RH48060;SHGC-31778 CTSX;FLJ17088 OTTHUMP00000031409;carboxypeptidase LB;cathepsin B2;cathepsin IV;cathepsin P;cathepsin X;cathepsin Y;cathepsin Z;cathepsin Z1;cysteine-type carboxypeptidase;lysosomal carboxypeptidase B;preprocathepsin P APPROVED protein-coding ENSG00000101160 2547 04410 603169 REVIEWED 1604165 CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe) 16 16 16 q24.3 73276731 73278805 - 87300392 87309295 + 88772891 88781794 + 6480464 19017811;12477932;21906983;20881960;18029348 348180 H3BNM3;H3BNU5;H3BPG4;H3BSW6;Q2VPK5 ABBA01015843;ABBA01015844;ABBA01015845;AC138028;AK299521;AMYH01007912;BC021056;BC021829;BC044951;BC063512;BC080540;BC108659;BC121805;BC125269;BC157881;BM554780;BQ430809;CH471184;NM_001012759;NM_001012762 AAH80540;AAI08660;AAI21806;AAI25270;AAI57882;BAG61472;EAW66775;EAW66776;EAW66777;EAW66778;EAW66779;EAW66780;NP_001012777;NP_001012780;Q2VPK5 Hs.592074 1676480;1736594;2138088 D16S2592E;RH94123;SHGC-61047 C16orf84;MGC131681;MGC148063;MGC148064;NCS2;UPF0432 cytoplasmic tRNA 2-thiolation protein 2 protein-coding ENSG00000174177 28005 18372 VALIDATED 1602450 CTU1 cytosolic thiouridylase subunit 1 19 19 19 q13.41 48652948 48663731 - 56293587 56299659 - 51600863 51611647 - 6480464 19017811;16964243;15489334;12477932;20877624;22678362 90353 Q7Z7A3 ABBA01068279;AC011473;AK291173;AMYH01009950;AMYH01009951;AY279382;BC009037;BX440723;CH471135;NM_145232 AAH09037;AAP42277;BAF83862;EAW71984;NP_660275;Q7Z7A3 Hs.148425 ATPBD3;MGC17332;NCS6 ATP binding domain 3;ATP-binding domain-containing protein 3;cancer-associated gene protein;cancer-associated protein;cytoplasmic tRNA 2-thiolation protein 1;cytoplasmic tRNA adenylyltransferase 1;cytosolic thiouridylase subunit 1 homolog APPROVED protein-coding ENSG00000142544 29590 14270 612694 VALIDATED 1352162 CTTN cortactin This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010] 11 11 q13 69922292 69960338 + 70244612 70282690 + 1580863;6480464;6484113;6907045 17081983;16169070;22378044;9054437;19242064;18991334;18931703;18776588;18678675;18607838;18521921;18406052;18403644;18387954;18342393;18039661;17959782;17702746;17643370;17627624;17576929;17562703;17510372;17483334;17451412;17449030;17292556;17178864;17056576;17005439;16964243;16937268;16905744;16825658;16825425;16815198;16652145;16636290;16611226;16527272;16489553;16442522;16416022;16385081;16344560;16280034;16261345;16212419;16076899;16051170;15951569;15710041;15618548;15592455;15579908;15574754;15464244;15302935;15263018;15242766;15169891;15159385;15144186;15123640;15064355;15056655;14702039;13129922;12952985;12913069;12835311;12672817;12620186;12522270;12477932;12453877;12419186;12408982;12176742;12176354;12151401;12060669;11988077;11830518;11689006;11607842;11439336;11389697;11018051;10921917;10537323;9823470;9813110;9792678;9748248;9742101;9722593;9553134;8636079;8474448;8125298;7685625;7680654;1532244;11431473;19322201;21044950;21628590;21847094;22252131;15719014;21145461;17620599;17893324;22089141;20805359;18850005;19146815;20363754;15842855;17318189;18334127;19207554;19219613;19457864;19589785;19684620;19885549;19885550;19898426;7566098;20053363;10760273;20069395;20213079;21257711;21079800;19947248;21373848;21503569;19666237;22944623;21258212;21474972;21562571;22863883;22939629;22991200;21395182;21669400;21418910;21419472;22105349;21646305;22117553;12938929;21139048;21890473;21906983;21858086;22078467;22219181;21856159;22050448;22282019;22007770;22145905;22514278;22297550;23144454;23161539;18067320;19805454;22304920;23000965;23030700;19380743;22768099;22797925;22952966;22377015 2017 AAB26248;B4E358;E9PKG3;E9PP90;H0YCD9;H0YEV2;H7BYK6;H7C314;Q14247;Q53HG7 AA325227;AB036705;ABBA01010311;AJ288897;AK023333;AK091778;AK222613;AK291097;AK304582;AMYH01003779;AP000487;AU124856;BC008799;BC033889;CH471076;DA716772;M98343;NG_029881;NM_001184740;NM_005231;NM_138565 AAA58455;AAB26248;AAH08799;AAH33889;ACE87023;ACE87710;BAD06416;BAD96333;BAF83786;BAG52416;BAG65370;EAW74766;EAW74767;EAW74768;EAW74769;EAW74770;NP_001171669;NP_005222;NP_612632;Q14247 Hs.596164 1682642;1717109;2114133;2120578;2131411;2159155;2179040;5037552;5109281 A008X45;D11S2382;D1S1425;D8S2279;EMS1;RH121473;RH17764;RH46594;RH65644 EMS1;FLJ34459 1110020L01Rik;OTTHUMP00000165961;OTTHUMP00000165962;OTTHUMP00000235667;amplaxin;ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate);oncogene EMS1;src substrate cortactin APPROVED protein-coding ENSG00000085733 3338 01268 164765 REVIEWED 7205525 CUBNP2 cubilin (intrinsic factor-cobalamin receptor) pseudogene 2 10 q11.21 45727466 45744344 - 100289280 ABBA01050025;AL512324;AMYH01002298 pseudo 44984 MODEL 7205586 CUBNP3 cubilin (intrinsic factor-cobalamin receptor) pseudogene 3 10 45622762 45644363 + 100421634 ABBA01050025;AL358394;AMYH01002298;NG_025491 1709020;1757515 SHGC-144890;SHGC-79578 pseudo 44985 INFERRED 68502 CUBN cubilin (intrinsic factor-cobalamin receptor) Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008] 10 10 p12.31 16905971 17211822 - 16865965 17171816 - 62401;61796;1599655;1580863;6480464;7240710 9478979;10080186;17037740 11717447;10552972;11994745;19161160;18791690;18448595;17979745;17487979;17124247;16303743;15736970;15616221;15342556;15164054;14576052;12687456;11856751;11788601;11595644;11278724;10887099;10811843;10371504;10037728;9691015;9572993;9334227;8510165;11606717;22437417;21116278;19913121;20615890;20628086;15583024;15951480;20852008;20855565;16385451;19197348;19303062;19366958;19710015;19878569;20237569;20379614;20398757;21355061;21595846;22337902;22929189;22990118;21781439;21903995;21750092;22574174;22761678 8029 B0YIZ6;H7C480;O60494;Q5JQ33 AB209880;ABBA01034561;ABBA01034562;ABBA01034563;AC067747;AF034611;AF086456;AF243082;AK074536;AK075228;AK308290;AK309623;AK310404;AL365215;AL596445;AL731551;AMYH01002065;BP270790;BP271329;CH471072;EF444970;NG_008967;NM_001081 AAC82612;AAK61829;ACA05973;ACA05974;BAD93117;BAG51968;BAG52089;EAW86221;NP_001072;O60494 Hs.166206 1706768;1717327;1753463;1757515;1781242;2111408;5022425;5024547 D10S1475;D1S3698;D22S296;RH122154;SHGC-107387;SHGC-144890;SHGC-80852;stSG69827 FLJ90055;FLJ90747;IFCR;MGA1;gp280 460 kDa receptor;OTTHUMP00000019220;cubilin;cubilin precursor variant 1;cubilin precursor variant 2;intestinal intrinsic factor receptor;intrinsic factor B12-receptor;intrinsic factor-cobalamin receptor;intrinsic factor-vitamin B12 receptor APPROVED protein-coding ENSG00000107611 2548 04296 261100;602997 REVIEWED 7205526 CUBNP1 cubilin (intrinsic factor-cobalamin receptor) pseudogene 1 10 q11.21 43189819 43210024 - 14702039 728064 ABBA01049992;AL022344;AMYH01002282;NG_023216 1740873;2111280 D10S1132;D10S2319 pseudo 44983 INFERRED 1604412 CTXN3 cortexin 3 5 5 5 q23.2 123115466 123125075 + 127012635 127022221 + 126984713 126994322 + 6480464 19023125;17786280;16344560;12477932;22643131 613212 Q4LDR2 AB219764;AB219832;ABBA01068876;AC022118;AMYH01015604;BC071790;BC147012;DA131605;DA623980;NM_001048252;NM_001127385 AAI47013;BAE06183;BAE06184;NP_001041717;NP_001120857;Q4LDR2 Hs.66194 1697204;1851559 RH102093;WI-13514 KABE OTTHUMP00000223480;OTTHUMP00000223481;cortexin-3;kidney and brain-expressed protein protein-coding ENSG00000205279 31110 VALIDATED 1353355 CTTNBP2 cortactin binding protein 2 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008] 7 7 7 q31 112158873 112321703 - 117137941 117300797 - 117350705 117513561 - 6480464 15489334;15364959;14702039;12853948;12690205;12477932;11707066;11214970;9813110;18782753;19615732;20379614;19156129;22145905 83992 C9J720;C9JFC9;C9JVQ6;F8WB16;H0Y448;H7BZH0;H7C0N3;H7C2I0;Q20BG9;Q8WZ74 AACC02000001;AB051545;ABBA01057795;ABBA01057796;ABBA01057797;ABBA01057798;AC004240;AC007568;AF377960;AK091548;AK096565;AK308081;AL137685;AMYH01017888;AMYH01017889;BC019644;BC106000;CH236947;CH471070;DQ354388;DQ354389;DQ354390;DQ354391;DQ356257;DQ356258;DQ356259;DQ356260;DQ356261;DQ356262;DQ356263;DQ356264;DQ388128;DQ388129;DQ388130;DQ388131;DQ388132;DQ388133;DQ388134;DQ388135;DQ388136;DQ388137;DQ388138;DQ388139;DQ388140;DQ388141;DQ388142;DQ388143;DQ388144;DQ388145;NM_033427 AAC04501;AAI06001;AAL32176;ABC79049;ABC79051;ABC79053;ABC79055;ABC87052;ABC87054;ABC87056;ABC87058;ABC87060;ABC87062;ABC87064;ABC87066;ABD72182;ABD72184;ABD72186;ABD72188;ABD72190;ABD72192;ABD72194;ABD72196;ABD72198;ABD72200;ABD72202;ABD72204;ABD72206;ABD72208;ABD72210;ABD72212;ABD72214;ABD72216;BAB21849;BAC04818;EAL24352;EAW83532;EAW83533;NP_219499;Q8WZ74 Hs.592285 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C7orf8;CORTBP2;FLJ34229;KIAA1758;MGC104579;Orf4 OTTHUMP00000024498;OTTHUMP00000196639;cortactin-binding protein 2 APPROVED protein-coding ENSG00000077063 15679 09890 609772 REVIEWED 1353903 CTXN1 cortexin 1 19 19 19 p13.2 7860583 7862253 - 7895384 7897029 - 7989381 7991051 - 6480464 15489334;12477932;8336151;21890473 404217 P60606 ABBA01010876;AC010336;AK098834;AMYH01009418;AMYH01009419;BC024148;BC062702;CH471139;NM_206833 AAH62702;EAW68956;NP_996664;P60606 Hs.657978 2109955 TIMM44_9116 CTXN;FLJ25968 cortexin-1 protein-coding ENSG00000178531 31108 13097 600135 VALIDATED 1607020 CTTNBP2NL CTTNBP2 N-terminal like 1 1 1 p13.2 111169369 111234318 + 112740383 112803739 + 112938800 113003786 + 6480464 11256614;18029348;16964243;16710414;16381901;16344560;15489336;15489334;15345747;15302935;14702039;12477932;11076863;10718198;18782753;19615732;22863883;19156129;20360068;21139048 55917 B1AMN7;Q9P2B4 ABBA01068406;AK022544;AK023340;AK055261;AL354760;AL359565;AL450407;AL598321;AMYH01000949;BC016029;BE645464;CH471122;DA238082;DB236769;NM_018704 AAH16029;BAG51087;CAB94870;CAL38429;CAL38646;EAW56515;EAW56516;EAW56517;NP_061174;Q9P2B4 Hs.744100 1648401;1650944;1771026;2136993;2178021 D1S2594;RH69499;SHGC-53201;SHGC-75328;SHGC-75334 DKFZp547A023;FLJ13278 CTTNBP2 N-terminal-like protein;OTTHUMP00000012854;OTTHUMP00000012855 protein-coding ENSG00000143079 25330 10906 615100 VALIDATED 6484026 CUL4AP1 cullin 4A pseudogene 1 4 q26 117347813 117351602 - 100129008 ABBA01063860;AC024248;AC106892;AMYH01014478;NG_022031 1337691;1696494;1719417;1847075 D4S1522;RH123490;SHGC-50310;SHGC-83131 pseudo 44027 INFERRED 1317669 CUEDC2 CUE domain containing 2 10 10 10 q24.32 97923900 97933326 - 104172992 104182413 - 104183002 104192423 - 737633;6480464 12477932 17347654;19285159;16341674;16189514;15489334;15164054;21572428;16385451;18362886;21743465;18029348;21987572;21139048;21890473;21906983;22084247;22505724 79004 Q9H467 AB025425;AB232358;ABBA01063157;ABBA01063158;ABBA01063159;AF086406;AL121928;AMYH01003017;BC000262;BF002772;BM756951;CH471066;CS072312;CX165866;NM_024040 AAH00262;BAB87809;BAE19942;CAI93450;EAW49696;EAW49697;EAW49698;NP_076945;Q9H467 Hs.500874 1671679;1769799;1855821;2131105;2191759;5100601 D10S2152;G73121;MARC_7165-7166:996687578:1;RH47391;SGC33233;SHGC-34547 C10orf66;MGC2491;bA18I14.5 CUE domain-containing protein 2;OTTHUMP00000020368 protein-coding ENSG00000107874 28352 13099 614142 VALIDATED 1349850 CUEDC1 CUE domain containing 1 17 17 17 q23.2 52402105 52442530 - 53295336 53335749 - 55940337 55980750 - 6480464 15489334;15231748;14702039;12477932;20098747;20802204;19953087;21139048;21890473;21906983;8889548 404093 J3KRK6;J3KRV3;J3KT42;J3QLQ8;Q6AHX0;Q9NWM3 ABBA01041319;AC015845;AK000746;AK000977;AMYH01008509;AMYH01008510;BC056882;BG475111;BU732837;CH471109;CR627470;NM_001271875;NM_017949;NR_073495 AAH56882;BAA91357;BAA91452;CAH10672;EAW94498;EAW94499;EAW94500;EAW94501;NP_001258804;NP_060419;Q9NWM3 Hs.46679 1644483;1770932;2142083 A004X25;G17969;RH12609 DKFZp547L163;FLJ20739 CUE domain-containing protein 1 protein-coding ENSG00000180891 31350 13098 VALIDATED 1321670 CUL2 cullin 2 10 10 p11.21 35338804 35419300 - 35297479 35379570 - 1580863;1559275;6480464;6483358;6907045 11818338;19364912 12609982;17304241;17353931;17609115;8681378;18984674;10585493;22284679;9751722;10318914;11779168;12730221;17609381;17698809;18247557;18420585;21145461;22013077;22466964;22474075;22912744;18372249;17609271;17069461;16620772;16503656;15489334;15280393;15164054;14702039;12477932;12149480;12004076;11384984;11337588;10973499;10597293;10535940;10449727;10230407;10092517;9447969;9122164;7660130;10587522;12481031;10823831;16385451;17183367;17439941;17636018;18173839;18826954;19030229;19615732;20078552;12048197;12604794;16036220;16611863;20562859;15448697;20086098;15572695;15966899;19760754;11861641;11865071;11967155;15601820;10421634;15060148;17132228;19270718;19327355;20049704;20847044;21778237;21822215;22863883;12504026;18775313;19339690;19584355;19940151;20639865;21119685;21249194;21572988;21942715;21987572;19037258;21139048;21890473;21906983;22405651;22537386;17786314;11024059;15611064;16261165;17339318;18187417;19622774;19695223;21685897;22234250;22286099;22318606;22674379;18323857;22939624;23000965;23201271;23401859;23455478;23460923;16856496;19295130;22053931;22086907;22190034;22190037;22948661;22956996 8453 Q13617;Q5T2B4;Q5T2B5;Q5T2B7;R4GNH8 ABBA01033347;AF126404;AI089201;AK095217;AK294080;AK300491;AK310225;AL392046;AL832733;AMYH01002233;AMYH01002234;BC009591;BC095405;BC110901;CH471072;DC401811;DC401936;NM_001198777;NM_001198778;NM_001198779;NM_003591;U58088;U83410 AAC50545;AAC51190;AAD23581;AAH09591;AAI10902;ADZ15514;BAG53007;BAH11667;BAH13294;EAW85924;EAW85925;EAW85926;EAW85927;EAW85928;NP_001185706;NP_001185707;NP_001185708;NP_003582;Q13617 Hs.82919 1690536;2114771;2217224 CUL2_3202;D10S2194;RH11247 MGC131970 CUL-2;OTTHUMP00000019436;OTTHUMP00000019437;OTTHUMP00000019439;OTTHUMP00000019440;OTTHUMP00000019441;cullin-2 protein-coding ENSG00000108094 2552 06786 603135 VALIDATED 1317824 CUL3 cullin 3 This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 2 2 q36.2 225043113 225158358 - 225334867 225450114 - 1580863;1559280;1559279;6480464;6484113;6907045 12781129;15601839 12609982;8681378;10500095;9733711;19427028;18757741;18303015;18251510;18221766;18218622;18075312;17543862;17254749;17192413;16620772;16524876;15897978;15897469;15592455;19256485;21357422;18247557;18414007;18835386;21145461;22013077;22245129;22466964;22474075;22558124;22573887;22632832;22911784;15489334;15302935;15282312;12477932;11337588;11311237;10597293;10230407;9734811;9663463;9110174;8619474;19261606;18417180;18573101;18429817;18826954;11384984;12481031;15983046;16036220;20562859;20452971;15572695;20800603;15772280;17046835;17148452;17439941;17822677;19489739;19615732;19768582;19782033;19818708;19995937;20081843;20389280;20463177;11861641;15367669;15448697;16547521;23142077;23213463;23349464;23387299;16790436;21670212;21832049;22863883;23040068;23135275;19818716;20027226;20080956;20847044;20865015;21237243;21577200;21778237;21828050;19037258;21139048;21840486;21890473;21906983;22219362;22266938;18274552;18775313;20360068;20421418;20599909;20864537;21549840;22085717;22147914;20534351;21249194;21987572;22118674;22215675;23454126;19805454;21988832;22448038;22939624;23000965;23201271;23453970;12684064;15107402;16045761;17699672;22405651;22578813;18397884;22542517;16503656;22245496;22748208;22810651;23365135;23563313;23573258;23576762;23308193;19295130;21247897;22505724 8452 B7Z600;H7C1J0;H7C1L6;H7C399;Q13618 AB014517;ABBA01023767;ABBA01023768;ABBA01023769;AC073052;AC092679;AF052147;AF062537;AF064087;AK098531;AK291151;AK299644;AK308496;AMYH01011526;AY007151;AY337761;BC031844;BC039598;BC092409;BQ688156;CH471063;NG_032169;NM_001257197;NM_001257198;NM_003590;U58089 AAC28621;AAC36304;AAC36682;AAC50546;AAH31844;AAH39598;AAH92409;AAQ01660;AAX93287;AAY24157;BAA31592;BAF83840;BAH13086;EAW70828;EAW70829;EAW70830;NP_001244126;NP_001244127;NP_003581;Q13618 Hs.372286 1672895;1685886;1706786;1714187;1734870;1771044;1795646;2155194;2178563;5093590;5491954 A009S22;CUL3-1;CUL3_313;D2S1630E;D2S1988;D2S2605;G32809;RH119703;RH47436;RH91730;SHGC-80864 CUL-3;FLJ25665;PHA2E CUL-3;OTTHUMP00000164219;OTTHUMP00000203839;OTTHUMP00000203840;cullin-3 APPROVED protein-coding ENSG00000036257 2553 09123 603136;614496 REVIEWED 1342683 CUL4B cullin 4B This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q23 119542472 119593712 - 119658444 119709684 - 1580863;6480464;6907045;7240710 22032989;21145461;21319273;22466964;21832049;22939629;12504026;12609982;8681378;19295130;19056892;18593899;18235224;17392787;17273978;17236139;17041588;16678110;16620772;16407252;16344560;16322693;15772651;15489334;15302935;14578910;12477932;12168954;10978356;10597293;10230407;10092517;9734811;12481031;15572695;16036220;20932471;20951943;16949367;16964240;18794347;19615732;19801544;19818632;20002452;20005570;20064923;21778237;21816345;22863883;21795677;18775313;20360068;21352845;22586326;19651607;21228219;21987572;22902626;22939624;23000965;23201271;21139048;21890473;21906983;21963094;16503656;16861890;18029348;23297343;23314748;23357576;23479742;23348097;23555860;19339032;21853274;22952844;22992378 8450 A6NE76;K4DI93;Q9UEB7 AB014595;ABBA01049575;ABBA01049576;ABBA01049577;ABBA01049578;ABBA01049579;AC002476;AF212995;AK123688;AK299081;AK315037;AL451005;AMYH01022918;AY365125;BC036216;BX537641;BX537787;BX647096;CH471107;CR936722;CV573599;DB092748;NG_009388;NM_001079872;NM_003588;U58091 AAB67315;AAC50548;AAH36216;AAK16812;AAR13073;ABM85676;BAA31670;BAG37520;BAG53936;BAH12944;CAD97843;EAX11876;EAX11877;EAX11878;EAX11879;EAX11880;NP_001073341;NP_003579;Q13620 Hs.102914 1340699;1681316;1700606;1769918;1795650;2135725;2139445;2170341;2179250;5122963 AL008931;AL021607;CUL4B_575;DXS1212;DXS425;DXS7272;DXS7904;G16011;RH103925;SHGC-56967 DKFZp686F1470;KIAA0695;MRXHF2;MRXS15;MRXSC;SFM2 CUL-4B;OTTHUMP00000023946;OTTHUMP00000023947;OTTHUMP00000023948;cullin-4B APPROVED protein-coding ENSG00000158290 2555 02251 300304;300354 REVIEWED 1351332 CUL4A cullin 4A CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009] 13 13 q34 112911087 112967393 + 113863086 113919392 + 1580863;6480464;6907045 12504025;8681378;19208841;19056892;18703516;18606781;18524771;18381890;18332868;17620334;17452440;17041588;16964240;16951172;16949367;16861906;16861890;16678110;16537899;16527807;16473935;16407252;16407242;16341674;16137618;15811626;15548678;15489334;15057823;15009096;14739464;14578910;12732143;12609982;12477932;12029633;11673459;11337588;10597293;10230407;9721878;21098278;16260596;19256485;22032989;22342275;10585395;16103149;16322693;17360488;17609381;18247557;18464893;21145461;22466964;22474075;22910413;9694792;12481031;15448697;17429597;18173839;18593899;18794347;19295130;19481525;19557001;19615732;19818632;20064923;19995430;20395298;11564859;21205828;12504026;16036220;16620772;20932471;20951943;15572695;19759913;20800603;11861641;22422151;19276361;20089662;22822215;22939629;22863883;23109433;14609952;20847044;21778237;18274552;18775313;19287380;20360068;20551172;20870715;21550341;17630831;19929949;21139048;21693764;21890473;21906983;21963094;22145905;18781797;20223979;20368362;21228219;21249194;21987572;21987584;22118460;22120631;22157821;17699672;22405651;22414063;22570418;16467204;16503656;17079684;17626091;17954973;19808933;20178741;22134138;22692198;16344560;22902626;22939624;23000965;23201271;23478441;23555860;17314515;17855541;18514189;18541215;19275585;19275588;19458171;19667756;19798433;20008788;20012529;20069611;20190741;20347598;20380700;21957298;22174317;22190034;22438978;22935713;22952844;22956996;23063525;23297343;23357576 8451 Q13619 AB012193;AB178950;ABBA01019863;ABBA01019864;AF077188;AK296700;AK314835;AL136221;AL833355;AMYH01005397;AMYH01005398;AMYH01005399;AY365124;BC008308;BC015166;BM835927;BX439434;CA445237;CH471085;DA478924;DA574202;DB455959;NM_001008895;NM_001278513;NM_001278514;NM_003589;U58090 AAC50547;AAD45191;AAH08308;AAR13072;ABW03594;BAA33146;BAD93235;BAG37354;BAG59294;EAX09201;NP_001008895;NP_001265442;NP_001265443;NP_003580;Q13619 Hs.339735 1736326;1748937;1782826;1795648;2121614;2123386;2159138;2179366 CUL4A_1335;D13S828E;SHGC-110591;SHGC-112141;STS-W68080;STS-W80462;WI-16281;WI-21043 CUL-4A;OTTHUMP00000018753;OTTHUMP00000018754;cullin-4A APPROVED protein-coding ENSG00000139842 2554 07218 603137 VALIDATED 1317768 CUL1 cullin 1 7 7 q36.1 148026866 148129135 + 148395933 148498202 + 1559274;1580863;6480464;6484113;6907045 10772955 12759363;12690205;12679038;12609982;12504026;12481031;12477932;12417738;12140560;11967155;11961546;11956208;11717410;11445862;11359933;11337588;11230166;11076863;11027288;10851089;10713156;10597293;10559858;14508008;12853948;12504025;8681378;12791267;12820959;15469984;11231585;18826954;18784078;18723677;17569795;17254749;17028207;16861300;16381901;16123585;16036220;15759013;15489336;15489334;14702039;10230407;10230406;9990852;9827542;9663463;9430629;8889548;17914462;18173839;18495667;10531035;12840033;18378770;12628165;18627766;18765672;11384984;17353931;10644755;11585921;12925736;14743216;12861003;14603323;14685242;11689688;19066453;19150432;19256485;22851693;18203720;20832730;15118074;15145941;15448697;15452136;15572695;15640526;15798217;15966899;16410731;20878082;16009132;16177058;16357137;16759355;15103331;15604093;16123592;16137618;16278047;16620772;16774918;16880511;17098746;17148452;17274640;17290223;17389604;17429597;17439941;18805092;19596235;19615732;19679553;19738611;19945379;20379614;19349673;14681206;20518860;11850407;11861641;21190721;12717421;12769844;21130766;12706828;10066435;10321728;10648623;19779646;10748083;11032804;11245432;11483504;17205132;18071316;19581926;22863883;22939629;23109433;18094045;18274552;18775313;19245792;19270694;19509332;19762596;19933270;21738080;16196087;17081987;18056411;19656241;19935701;20068069;20847044;21778237;21813641;10023660;16045761;19966869;22318606;22674379;22711876;22730322;17318178;20708156;21119685;21249194;21572988;21946088;21987572;22113614;22118674;17704768;22399757;22590978;22405651;12565873;12628923;12684064;12904573;14752276;15361859;16503656;16797541;16874460;17015689;17079684;17215248;17452440;17494702;19141280;19193609;19398581;19762597;19808933;20160477;20473970;20638939;21135578;21169563;21205095;21903097;22388891;22767593;22822056;15456869;18818696;19037258;19786724;21139048;21890473;21906983;21963094;22464731;10790373;22479149;17370265;18239684;19713960;21572392;21988832;22939624;23000965;23108047;23201271;23213463;23267066;23297342;23322298;23324393;23408908;23453757;23469015;9736735;10318914;10559916;11506706;16103149;16275325;16322693;16714087;17206147;17438373;18247557;18606781;18650423;18660753;18809579;18851830;21145461;21640084;21757720;22013077;22310285;22466964;22474075;22748924;9636170;21765416;23429288;23554956;23563313;23589227;11565034;19295130;20181953;20190741;21247897;22017875;22190034;22190037;22268729;22505724;22956996;22959436;22972877;22975506;23019411;23027877 8454 B3KTW0;Q13616 AACC02000041;ABBA01033596;AC005229;AC006323;AF062536;AK096163;AK096505;AK296909;AK315023;AMYH01018114;AMYH01018115;BC034318;BC125119;BC125120;BG391038;BX537409;CA945052;CH471146;NM_003592;U58087 AAC36681;AAC50544;AAI25120;AAI25121;AAM49153;AAS02034;BAG53222;BAG53307;BAG59465;CAD97651;CAL38322;CAL38443;EAL24422;EAW80072;EAW80073;EAW80074;NP_003583;Q13616 Hs.146806 1341318;1657483;1683547;1708936;1712388;1759375;1766873;1775300;1852330;1853674;2217222;7186745 BCD3347;CUL1_3035;D7S2419;G54220;RH44316;RH45747;SHGC-151181;SHGC-152293;SHGC-30511;SHGC-79521;STS-AA028139 MGC149834;MGC149835 CUL-1;OTTHUMP00000202347;cullin-1 protein-coding ENSG00000055130 2551 04389 603134 VALIDATED 733947 CUL5 cullin 5 11 11 q22.3 107384618 107483698 + 107879408 107978488 + 1580863;1559277;1299331;2301432;2301433;6480464;6907045 15021886;12821186;17010517;12635525 9581826;12504025;8681378;18029348;14564014;15781449;18216112;17974915;17449237;17351129;17257057;17186378;17069461;16636053;16530799;15574592;15489334;15184056;14702039;12917106;12477932;12186903;11409851;11384984;10898738;10597293;10230407;10092517;9950950;9119394;9037604;8889549;16303161;15574593;17353931;17135358;18247557;18508766;18835386;21145461;22379088;16325183;21635549;21988832;23000965;23201271;23217182;23438482;11337588;15231748;15761153;17636018;18826954;19118439;19588889;19615732;19933325;18805092;11861641;15965468;16961462;17898068;17620599;15601820;23300442;23383273;22863883;20847044;21778237;18274552;21199876;21571098;21980433;18326044;19037258;20972266;21139048;21890473;21906983;21963094;22405651;17869271;20302626;20463065;20532212;20603330;21030588;21119685;21249194;21987572;17148442;18187417;18499212;18562529;19109396;19300455;22145963;22479405;23098073;17828303;18541215;18596088;18789977;19008196;19038776;19295130;19884766;20096141;20147392;20174454;20220118;20450485;20592083;21149631;22190034;22190036;22190037;22505724 8065 E9PP19;H0YCA0;Q93034 AA099369;AA403092;AA471067;ABBA01039871;ABBA01039872;ABBA01039873;AF017061;AF327710;AK125294;AK292575;AMYH01004020;AP002433;AP003307;BC017838;BC037203;BC063306;CH471065;H01402;NM_003478;X81882 AAB70253;AAH63306;AAK07472;BAF85264;CAA57465;EAW67101;EAW67102;NP_003469;Q93034 Hs.440320 1697886;1697920;1710122;1751321;1797450;1857314;2119804;2158638 CUL5_2069;RH102471;RH102489;RH68294;SHGC-105141;SHGC-81539;STS-AA037842;STS-X81882 VACM-1;VACM1 CUL-5;Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1);OTTHUMP00000232740;OTTHUMP00000232742;Vasopressin-activated calcium-mobilizing receptor-1;cullin-5;vasopressin-activated calcium-mobilizing receptor 1;vasopressin-activated calcium-mobilizing receptor protein protein-coding ENSG00000166266 2556 03444 601741 VALIDATED 5131594 CUX2P1 cut-like homeobox 2 pseudogene 1 10 p14 10299174 10299339 - 100126596 ABBA01034707;AL354916;AMYH01002021;NG_028748 pseudo 33694 INFERRED 1346513 CUTA cutA divalent cation tolerance homolog (E. coli) 6 6 6 p21.32 34938742 34940488 - 33492297 33494043 - 33384319 33386065 - 6480464 10800960;17924204;15489334;15146197;14574404;12477932;10954708;22351782;16712791;19851445;22863883;22939629;18624398;18781797;21139048;20195357;21963094 51596 C9IZG4;C9IZQ5;F2Z2Q5;H0YDR4;O60888 ABBA01038148;AF106943;AF230924;AL021366;AL050332;AL533788;AL662799;AMYH01016245;BC005890;BC107751;BG472577;BU540844;BX088650;CB106834;CH471081;CN363642;NG_016137;NM_001014433;NM_001014837;NM_001014838;NM_001014840;NM_015921 AAD21026;AAF61220;AAH05890;AAI07752;CAA16160;CAB63779;EAX03731;EAX03732;EAX03733;EAX03734;NP_001014433;NP_001014837;NP_001014838;NP_001014840;NP_057005;O60888 Hs.520070 1695020;1851236;2123248;2126620;2178560;5037738 D1S3689;G44723;RH1523;RH15807;STS-Z40841;STS-Z41506 ACHAP;C6orf82;MGC111154 OTTHUMP00000029371;OTTHUMP00000029375;OTTHUMP00000215493;OTTHUMP00000215496;OTTHUMP00000215497;acetylcholinesterase-associated protein;brain acetylcholinesterase putative membrane anchor;chromosome 6 open reading frame 82;divalent cation tolerant protein CUTA;protein CutA protein-coding ENSG00000112514 21101 12902 VALIDATED 1314380 CUL7 cullin 7 The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] 6 6 p21.1 43113333 43129632 - 43005355 43021683 - 1580863;1559287;1559277;1559286;6480464;6907045;7240710 16142236;15021886;12481031 19225462;17942889;17675530;17586686;17332328;17298945;16875676;16547496;15489334;14574404;12904573;12477932;12421765;10531037;7584044;15964813;16344560;17474147;20005570;18029348;20301654;22939629;21396581;17205132;21737058;21778237;19850743;21119685;21946088;22524683;21572988;17229476;21135578;21139048;21890473;21906983;22156540;22318606;22586326;22942238;23455922;23667531;23000965;23018678;23383273;17998335;22032989;23045529;23029530 9820 Q14999 ABBA01050696;ABBA01050697;AK292806;AK302668;AK307936;AK309902;AL136304;AL355385;AMYH01016311;BC033647;BG424177;CH471081;D38548;DA496861;NG_016205;NM_001168370;NM_014780 AAH33647;BAA07551;BAF85495;BAG63902;EAX04144;EAX04145;NP_001161842;NP_055595;Q14999 Hs.520136 1667040;1673739;1776371;2110347;2217628;5125336;5491471;5491519 CUL7_8997;MARC_14751-14752:1010684373:1;MARC_16785-16786:1033500245:3;MRPL2_2872;RH25305;RH46646;WI-16092;WI-19676 KIAA0076;dJ20C7.5 CUL-7;OTTHUMP00000016418;cullin-7 APPROVED protein-coding ENSG00000044090 21024 09901 273750;609577 REVIEWED 1314310 CUX2 cut-like homeobox 2 This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013] 12 12 12 q24.12 111098413 111414529 + 109956212 110272739 + 111471828 111788358 + 1580863;6480464 19401682;19328558;15656993;12477932;12168954;11353453;9446557;9179496;8798433;20634891;22293688;23364394 23316 F5GWR6;O14529 AB006631;ABBA01019882;ABBA01019883;ABBA01019884;ABBA01019885;ABBA01019886;AC002352;AC002978;AC002979;AC005805;AF234996;AF271236;AMYH01004750;AMYH01004751;AMYH01004752;BC151245;NG_023039;NM_015267 AAG59617;AAG59620;AAI40441;AAI51246;BAA22962;NP_056082;O14529 Hs.124953 1649626;1662135;1782636;1847206;2107979;2115307;2171842;2183497 A004C03;CUTL2__4657;D12S1817;RH15677;RH48630;RH65418;SGC32083;SHGC-145997 CDP2;CUTL2 OTTHUMP00000241512;homeobox protein cut-like 2;homeobox protein cux-2 APPROVED protein-coding ENSG00000111249 19347 10851 610648 REVIEWED 1353922 CUZD1 CUB and zona pellucida-like domains 1 10 10 10 q26.13 118298121 118312137 - 124581664 124595681 - 124591671 124605691 - 633090;6480464 10542259 15184879;16862170;15588985;15164054;12975309;12361947;11416020;12477932 50624 Q9HAR7 ABBA01062840;AC073585;AF305835;AK289445;AL359747;AMYH01003143;AY260047;AY260048;AY260049;AY260050;BC136755;BC144398;BX538283;BX538284;BX648572;CH471066;NM_022034;NR_037912 AAG23215;AAI36756;AAP15458;AAP15459;AAP15460;AAP15461;BAF82134;CAD98079;CAD98080;EAW49303;NP_071317;Q86UP6 Hs.647182 5123857 SHGC-57260 ERG-1;UO-44 CUB and ZP domain-containing protein 1;CUB and zona pellucida-like domain-containing protein 1;OTTHUMP00000020674;estrogen regulated gene 1;transmembrane protein UO-44 protein-coding ENSG00000138161 17937 06476 VALIDATED 1604392 CUL9 cullin 9 6 6 6 p21.1 44702143 44744534 + 43257900 43300303 + 43149922 43192325 + 6480464 15964813;17474147;18230339;17332328;17298945;16672220;15489334;14702039;12526791;12477932;12421765;10521492;9734811;15558054;17380154;19851296;20198315;23287719;19850743;21139048;21890473;21906983;22117079;17229476;21487039;22586326;23000965;23251661;16875676 23113 E9PEZ1;H0Y8H9;H0YA00;Q8IWT3 AB014608;ABBA01050693;AJ318215;AK125228;AK128364;AK129649;AL133375;AMYH01016311;AY145132;BC002879;BC017747;BC028159;CH471081;CR749511;CR749841;NM_015089 AAH02879;AAH28159;AAI48598;AAN61516;BAA31683;BAC85207;BAC86090;CAC85756;CAH18328;CAH18696;EAX04163;EAX04164;NP_055904;Q8IWT3 Hs.485434 1672038;1680266;1717569;1760269;2111954;2176458;2179492;2179494;2188127;5491471 D6S2165;D6S2213;G66069;MARC_14751-14752:1010684373:1;RH122089;RH46608;RH93922;SHGC-132585;SHGC-36318;WI-22259 DKFZp686G1042;DKFZp686P2024;H7AP1;PARC;RP3-330M21.2 CUL-9;OTTHUMP00000016423;OTTHUMP00000217056;UbcH7-associated protein 1;cullin-9;p53-associated parkin-like cytoplasmic protein;parkin-like cytoplasmic p53 binding protein protein-coding ENSG00000112659 15982 06317 607489 VALIDATED 1312713 CUTC cutC copper transporter Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008] 10 10 10 q24.2 95229343 95253279 + 101481948 101505884 + 101491958 101515894 + 1580863;6480464 16341674;16189514;16182249;15635413;15489334;14702039;12477932;10810093;7635807;16169070;19878721;22863883;18029348;22412388;21139048;21963094;23251661;22505724 51076 Q5TCZ7;Q9NTM9 ABBA01063243;AF132966;AK001142;AK302507;AK314687;AL133353;AMYH01002990;BC011016;BC015059;BC021105;BC028948;BM738181;CD107559;CH471066;NM_015960 AAD27741;AAH21105;AAH28948;BAG37239;BAG63784;EAW49854;EAW49855;EAW49856;NP_057044;Q9NTM9 Hs.16606 1849400;5095562 D10S2401;RH122013 CGI-32;RP11-483F11.3 OTTHUMP00000020260;OTTHUMP00000020261;OTTHUMP00000020262;copper homeostasis protein cutC homolog;cutC copper transporter homolog;cutc copper transporter homolog (e.coli) APPROVED protein-coding ENSG00000119929 24271 13100 610101 VALIDATED 1312323 CWF19L1 CWF19-like 1, cell cycle control (S. pombe) 10 10 10 q24.31 95730012 95765394 - 101982045 102017427 - 101992055 102027437 - 737633;6480464 12477932 14702039;16169070;16385451;19773279;8125298;23182705;21139048;21890473;21906983 55280 Q69YN2 ABBA01063229;AK000876;AK001860;AK023984;AK055313;AK097895;AK225590;AK295303;AL138921;AL832515;AMYH01002997;BC008746;CH471066;NM_018294 AAH08746;ADZ16031;BAA91947;BAB14754;BAG58283;CAH10625;EAW49838;EAW49839;EAW49840;EAW49841;EAW49842;EAW49843;EAW49844;NP_060764;Q69YN2 Hs.215502 1706060;1857576;2186054;2191669;5022450;5024039;5024413;5037552 D10S275;D16S325;D8S2279;L17877;MARC_4339-4340:996679552:1;RH66207;SHGC-30533;SHGC-80065 FLJ10998;RP11-316M21.3 CWF19-like protein 1;OTTHUMP00000020277 protein-coding ENSG00000095485 25613 13101 VALIDATED 1320784 CWF19L2 CWF19-like 2, cell cycle control (S. pombe) 11 11 11 q22.3 104362890 104483437 - 106702293 106830406 - 107197071 107328572 - 737633;6480464 12477932 18398821;16344560;14702039;20677014;20379614;21832049 143884 H0YE03;H7C3G7;Q2TBE0 ABBA01039881;ABBA01039882;ABBA01039883;ABBA01039884;AI148333;AK056905;AK126881;AK293001;AMYH01004012;AMYH01004013;AMYH01004014;AP000766;AP001823;BC016611;BC028043;BC056241;BC070142;BC107418;BC110439;BC110440;BC110441;BC110442;BC118669;BX647832;BX648704;BX649022;CH471065;DA291472;NM_152434 AAH28043;AAH56241;AAI10440;AAI10441;AAI10442;AAI10443;AAI18670;BAB71307;BAF85690;EAW67085;EAW67086;NP_689647;Q2TBE0 Hs.212140 1689215;1769028;1782342;2161214;2171802 D11S2228E;D11S4021;RH36538;RH92467;SHGC-145207 FLJ32343 CWF19-like protein 2;OTTHUMP00000202828 protein-coding ENSG00000152404 26508 13102 VALIDATED 1319831 CUX1 cut-like homeobox 1 The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011] 7 7 q22.1 101246012 101713970 + 101459184 101927250 + 6480464 22584459;1301999;19361498;19015243;18614194;18403643;18347061;17957475;17682059;17681953;17496784;17369846;17227781;17140660;16574653;16529788;15950902;15718469;15489334;15269344;15099520;15004235;14702039;12891711;12853948;12766905;12743282;12665598;12522000;12477932;12438259;12429822;12193717;12115525;12052827;11953010;11748221;11584018;11509674;11403998;11371564;10852958;10803519;10607901;10373541;9799793;9792700;9332351;8662884;8468066;8125298;2481658;16169070;20842632;19332113;20936779;19590514;19635798;20237496;20379614;18029348;20689760;19394292;20848487;20442202;21245318;22990118;21330321;21674579;21471005;22306263;21139048;21532573;21693764;21890473;19471022;22438831;22965931;23085261;23667531;17725712;23000965;23212519;23255599;22180456 1523 H0YL76;H0YMA9;H0YMK9;Q13948;Q3LIA3;Q9UEV5 AB075522;ABBA01011295;ABBA01011296;ABBA01011297;ABBA01011298;ABBA01011299;ABBA01011300;ABBA01011301;ABBA01011302;ABBA01011303;ABBA01011304;ABBA01011305;ABBA01011306;ABBA01011307;AC005072;AC005086;AC005088;AC005096;AC005103;AC091390;AC092788;AF047825;AK056307;AK122726;AK125097;AK222832;AK297548;AK303151;AMYH01017765;AMYH01017766;BC007204;BC012323;BC025422;BC040199;BC045562;BC066592;CH471197;DC410774;L12579;M74099;NG_029476;NM_001202543;NM_001202544;NM_001202545;NM_001202546;NM_001913;NM_181500;NM_181552 AAA35654;AAC78778;AAH25422;AAH66592;AAP22331;AAS07388;AAS07406;AAS07410;AAS07523;BAD96552;BAE45765;BAG53691;BAG54140;BAG59942;BAG64254;EAW50227;EAW50228;NP_001189472;NP_001189473;NP_001189474;NP_001189475;NP_001904;NP_852477;NP_853530;P39880;Q13948 Hs.191482 1336861;1337238;1340994;1341901;1656164;1662635;1668038;1668156;1700838;1711236;1720231;1720257;1725111;1764955;1771004;1776031;1776100;1777038;1786458;1791962;1849094;1856738;2114588;2115547;2116477;2120360;2120496;2131119;2141224;2154141;2155102;2156349;2159815;2160740;2163469;2163792;2164309;2182678;2183421;2189401;5109735;7183729;7183754;7184346;7184348;7185448 AF007375;CUTL1;D12S1228E;D7S1616;D7S2433;D7S2686;D7S515;D7S518;D7S543E;D7S546E;D7S666;D7S740;GDB:1317346;GDB:1317368;GDB:1318673;GDB:4584979;GDB:4585337;GDB:4585345;GDB:4585377;GDB:4585601;MARC_4357-4358:991938494:5;PMC133930P1;RH104044;RH118854;RH123864;RH123877;RH12633;RH16539;RH36434;RH44454;RH48012;RH48359;RH69797;SHGC-148514;SHGC-172596;SHGC-84975;STS-N22942;WI-13779;WI-17166;WI-21075;WI-21899 CASP;CDP;CDP/Cut;CDP1;COY1;CUTL1;CUX;Clox;Cux/CDP;FLJ31745;GOLIM6;Nbla10317;p100;p110;p200;p75 CCAAT displacement protein;OTTHUMP00000211510;OTTHUMP00000211511;OTTHUMP00000211512;OTTHUMP00000211513;OTTHUMP00000211514;OTTHUMP00000211515;OTTHUMP00000211516;OTTHUMP00000211517;OTTHUMP00000211518;cut homeobox;cut homolog;cut-like 1, CCAAT displacement protein;golgi integral membrane protein 6;homeobox protein cut-like 1;homeobox protein cux-1;protein CASP;putative protein product of Nbla10317 APPROVED protein-coding ENSG00000257923 2557 00295 116896 REVIEWED 1603211 CWC25 CWC25 spliceosome-associated protein homolog (S. cerevisiae) This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012] 17 17 17 q12 33618412 33642555 - 34210972 34235115 - 36957446 36981589 - 6480464 16189514;12477932;21145461;19941820;8125298 54883 B4DJK2;B4DZL1;J3QLP6;K7EJ93;Q9NXE8 ABBA01031897;ABBA01031898;AC006449;AK000298;AK225373;AK296115;AK302983;AK316077;AMYH01008368;AW612704;BC003085;BC008833;CH471152;CR749362;HY021361;NM_017748;NR_073428 AAH03085;AAH08833;BAA91065;BAG58864;BAG64123;BAH14448;CAH18215;EAW60537;NP_060218;Q9NXE8 Hs.406223 1677276;1678221;2176723;5014051 D8S2278;RH45659;RH76647;RH94016 CCDC49;DKFZp779M0968;FLJ20291 coiled-coil domain containing 49;coiled-coil domain-containing protein 49;pre-mRNA-splicing factor CWC25 homolog;spliceosome-associated protein homolog CWC25 APPROVED protein-coding ENSG00000108296 25989 07892 REVIEWED 1321752 CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae) 5 5 5 q12.3 61061675 61311486 + 64100511 64350346 + 64064755 64314590 + 6480464 12975309;12477932;11329013;9610721;8125298;19941820;20379614;11991638;22939629;21139048;22365833;23251661 10283 D6REK3;Q6UX04 ABBA01048337;AC008898;AC092354;AC109465;AF039692;AF039693;AK225105;AK225161;AK308223;AK312954;AMYH01015132;AY358569;BC012117;BG193598;BX647971;CH471137;NM_005869 AAC18041;AAC18042;AAH12117;AAQ88932;EAW51364;EAW51365;NP_005860;Q6UX04 Hs.371372 1710308;1717177;1751705;1771218;2108447 BCD1519;RH121511;SDCCAG10_9082;SHGC-105747;SHGC-85262 NY-CO-10;SDCCAG10 OTTHUMP00000082703;OTTHUMP00000221956;PPIase CWC27;PPIase SDCCAG10;antigen NY-CO-10;peptidyl-prolyl cis-trans isomerase CWC27 homolog;peptidyl-prolyl cis-trans isomerase SDCCAG10;serologically defined colon cancer antigen 10 APPROVED protein-coding ENSG00000153015 10664 11541 VALIDATED 1605651 CWC22 CWC22 spliceosome-associated protein homolog (S. cerevisiae) 2 2 2 q31.3 174403852 174466024 - 180517849 180580025 - 180809604 180871780 - 6480464 11991638;15231747;14702039;12477932;10997877;9136012;20379614;22961380;22365833;18029348;20360068;21906983;21252943;22219177;22318606;22952844;23236153;22959432 57703 B7WP27;B7WP74;Q9HCG8 AB046824;ABBA01062263;AC068194;AC096587;AK025635;AK026978;AK123647;AMYH01011309;BC016651;BC031216;BC041662;BC053573;BC057826;BC093952;BC093954;BC143433;BF699499;CH471058;NM_020943 AAH16651;AAH31216;AAH53573;AAH57826;AAH93952;AAH93954;BAB13430;BAB15197;BAB15612;EAX10996;EAX10997;EAX10998;NP_065994;Q9HCG8 Hs.311363 1697878;1717115;5113265 RH102467;RH121476;RH65718 EIF4GL;KIAA1604;NCM;fSAPb OTTHUMP00000205374;OTTHUMP00000205375;functional spliceosome-associated protein b;nucampholin homolog;pre-mRNA-splicing factor CWC22 homolog protein-coding ENSG00000163510 29322 17220 615186 VALIDATED 2291815 CXADRP2 coxsackie virus and adenovirus receptor pseudogene 2 15 15 q11.2 19268721 19280268 - 22014403 22016878 - 646243 AC068446;AMYH01006214;BX095347;NR_024387 Hs.720910 pseudo 33973 VALIDATED 2291817 CXADRP1 coxsackie virus and adenovirus receptor pseudogene 1 21 21 21 q11.2 14541826 14544277 + 13970191 13973238 + 15048262 15050713 + 6480464 10543405 653108 AL050303;AMYH01012134;NG_008739 CAR;CXADRP pseudo 23770 INFERRED 1604821 CWC15 CWC15 spliceosome-associated protein homolog (S. cerevisiae) 11 11 11 q21 91983570 91994563 - 94335435 94346424 - 94695787 94706776 - 6480464;6907045 10873569;18951430;15342556;12477932;11884590;11042152;8889548;8125298;11101529;17332742;18482256;11991638;23084401;21832049;22939629;20360068;20176811;21988832;22365833 51503 Q9P013 ABBA01040022;AF110775;AF161497;AJ250393;AK225956;AK309042;AK314900;AMYH01003965;AP002383;BC006975;BC032629;BC040946;BM971024;BP231785;BU676427;CA413488;CH471065;FP884233;NM_016403 AAF14858;AAF29112;AAH06975;AAH32629;AAH40946;ADR82696;BAG37414;CAB96541;EAW66946;EAW66947;EAW66948;EAW66949;EAW66950;EAW66951;NP_057487;Q9P013 Hs.503597 1338094;1857901;2111402;2175950;2191183;5024198 D11S1757;D11S2222E;MARC_16003-16004:1017065174:4;WI-11443;WI-13811;WI-18020 C11orf5;Cwf15;HSPC148;ORF5 CWC15 homolog;protein CWC15 homolog;spliceosome-associated protein CWC15 homolog protein-coding 26939 13703 VALIDATED 1345190 CXB3S coxsackie virus B3 sensitivity 7240710 1526 2560 1602204 CWH43 cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 4 4 4 p11 49436682 49512564 + 48683022 48758853 + 48988265 49064096 + 6480464 16344560;12477932;17714445;17761529;22095909 80157 D6RDZ8;E7EQL2;Q9H720 ABBA01014355;AC020593;AI377551;AK025164;AK300495;AK316307;AMYH01014163;AMYH01014164;BC137387;BC137388;CH471069;DA426878;NM_025087 AAI37388;AAI37389;BAB15080;BAG62209;BAH14678;EAW93078;NP_079363;Q9H720 Hs.479703 1664571;1689087;1706702;1850582;2168534;2177423;2177425;7184892 D4S253;D4S525;G34100;L00893;RH91856;SHGC-51677;SHGC-82855 CWH43-C;FLJ21511 OTTHUMP00000158791;OTTHUMP00000220631;PGAP2-interacting protein;cell wall biogenesis protein 43 C-terminal homolog APPROVED protein-coding ENSG00000109182 26133 08638 VALIDATED 2299986 CXADRP3 coxsackie virus and adenovirus receptor pseudogene 3 18 18 18 p11.21 14541777 14543217 + 14466863 14488705 - 14477951 14498705 - 12477932 440224 ABBA01074060;ABBA01074061;AMYH01008856;AP006261;BC089388;NR_024076 Hs.721675 pseudo ENSG00000265766 33974 PROVISIONAL 735910 CX3CL1 chemokine (C-X3-C motif) ligand 1 16 16 q13 55963915 55976457 + 57406414 57418956 + 1580863;4140458;4891887;4891945;4891956;4891990;4891998;4891906;4891907;4891973;4892001;4892002;4891883;4891886;4891898;4891946;4891964;4891965;4891994;4891995;4891888;2304251;4892022;4891897;4143386;4891889;4891972;4891992;4891968;4891892;6480464 20696083;19948918;19648777;19563789;16018993;12053272;14657873;21224760;16053521;11870871;11465708;20869263;20053825;15608300;19590241;19368990;19282612;15153618;14605272;18772344;19249394;18006432;16113250;20669672;18630689;16651033;15153757;18448252;17302066 9826729;21527754;12714508;11777952;19372452;19369458;19351602;19327232;19324423;19214751;19155311;19153557;19132243;19047106;19030200;18938112;18800027;18799722;18799080;18778890;18725411;18606701;18523306;18436581;18367676;18296082;18230685;17907166;17895402;17885215;17611763;17505143;17487393;17471309;17415055;17241867;17132725;17082482;17075825;17062081;17002687;16877565;16767549;16645504;16224053;15774461;15726664;15621116;15579768;15529011;15489334;15361546;15223613;15131578;15111313;15013759;14747189;14688370;14665693;14581400;14580149;14533779;14514721;12969992;12969973;12824004;12810688;12727021;12667665;12639246;12616493;12569179;12551893;12477932;12126650;12125082;12100035;12076860;12055230;12042278;12016106;11909868;11495925;11238035;10940926;10770945;10731151;10640747;10493829;10458770;9931005;9726990;9691168;9390561;9177350;9024663;8125298;10869418;22422195;22641052;20922190;19913121;20485444;20628086;20158572;20664972;19432809;19605482;19723636;19729601;19840952;19850645;19851523;19923448;20019415;20034466;20041188;20231691;20237149;20237496;20512991;20559678;20482449;20668227;20880200;22739755;23117657;21398580;21525510;22572859;22916279;23002075;22664781;21768350;21750716;21168500;21463954;21546901;22321225;22394569;23014777;23168573;21638128;22123179;20511186;22322207;22709495;22897138;22652599;22692452;23086480;23229614;23029290;22177089;22798324;23303826;23125415;17151939;22093090;22639377;23584220 6376 A0N0N7;H3BSR6;H3BV86;J3QRA1;P78423 AB209037;ABBA01025270;AC004382;AC009052;AK222692;AK223351;AK313806;AMYH01007699;BC001163;BC016164;CH471092;CR457426;EF064745;GU047346;NM_002996;U84487;U91835 AAB49679;AAB50014;AAC24307;AAH01163;AAH16164;ABK41928;ABM81630;ABM82797;ABM84814;ABM85985;BAD92274;BAD96412;BAD97071;BAG36542;CAG33707;EAW82919;NP_002987;P78423 Hs.531668 1680084;1686346;2110349;2157601;2165855;5015619;5022578;5037552 CX3CL1__7873;D11S3114;D16S2589E;D1S1423;D8S2279;RH67976;RH79608;RH86440 ABCD-3;C3Xkine;CXC3;CXC3C;NTN;NTT;SCYD1;fractalkine;neurotactin C-X3-C motif chemokine 1;CX3C membrane-anchored chemokine;OTTHUMP00000164674;fractalkine;small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin);small inducible cytokine subfamily D (Cys-X3-Cys), member-1;small-inducible cytokine D1 protein-coding ENSG00000006210 10647 03529 601880 PROVISIONAL 1346916 CXADR coxsackie virus and adenovirus receptor The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011] 21 21 q21.1 17807201 17861147 + 18885224 18965897 + 1580863;6480464;6907045 9036860;18029348;9096397;15800062;16780588;19506548;19502044;19467232;19142187;19132065;19131551;19119424;19115936;19100061;19007771;18959124;18558015;18552123;18081225;17538635;17506949;17494992;17278108;17210569;17118917;17031523;16956941;16951199;16937527;16923808;16831563;16284735;16189514;16101391;15958612;15956603;15831949;15778494;15596863;15533241;15489334;15456946;15364909;15304526;15302935;15173092;14978041;14967025;12920584;12477932;12468544;12297051;12021372;11752156;11734628;11573093;11549277;11479928;11457744;11316797;11080637;10666333;10567268;10543405;10490761;9420240;9144533;15110532;20622880;17896511;18618240;19495568;19527712;19590529;19773761;19925382;19933937;19957088;20379614;20361046;19615283;20862245;20949078;22889411;21468049;22914544;22939629;21389059;21103663;23307165;17675666;21420451;21431326;22809504;22708837;21712047;21791114;21139048;21843868;21850251;21906983;19322201;22190856;21641134 1525 D3YHP0;P78310 ABBA01057120;ABBA01057121;ABBA01057122;AF124598;AF169366;AF200465;AF242865;AI498294;AK313526;AMYH01012149;AMYH01012150;AP000963;AP000967;AY072910;AY072911;AY072912;BC003684;BC010536;BM547121;BT019876;CH471079;CV570985;GU474812;NG_029458;NM_001207063;NM_001207064;NM_001207065;NM_001207066;NM_001338;U90716;Y07593 AAC51234;AAD31772;AAF05908;AAF24344;AAG01088;AAH03684;AAH10536;AAL68878;AAL68879;AAL68880;AAV38679;ABM82107;ABM85289;ADC84500;BAG36305;CAA68868;EAX10030;EAX10031;EAX10032;EAX10033;NP_001193992;NP_001193993;NP_001193994;NP_001193995;NP_001329;P78310 Hs.627078 1679930;1688128;1689360;1756215;1794870;1794872;2132624;2177441;2183857;5014051;5022200 D8S2278;G19855;L18426;PMC64780P1;PMC64780P2;RH10657;RH15618;RH79230;SHGC-143084;SHGC-37161;SHGC-51804 CAR;CAR4/6;HCAR 46 kD coxsackievirus and adenovirus receptor (CAR) protein;CVB3 binding protein;CVB3-binding protein;HCVADR;OTTHUMP00000083232;OTTHUMP00000083233;OTTHUMP00000083234;OTTHUMP00000083235;OTTHUMP00000208017;coxsackie virus B receptor;coxsackievirus B-adenovirus receptor;coxsackievirus and adenovirus receptor APPROVED protein-coding ENSG00000154639 2559 11804 602621 REVIEWED 1352124 CX3CR1 chemokine (C-X3-C motif) receptor 1 Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 3 3 p21.3 39279989 39296531 - 39304985 39323226 - 1580863;4891901;4891905;4891907;4891972;4891885;4891893;4891898;4891903;4891900;4891904;4891945;4892002;4144897;4892014;4892018;4891895;4891946;4891998;4892001;4892015;4892020;4891882;4891942;4892027;4891995;4891891;4891896;4891968;4891992;4891969;4892016;4891964;4891973;6480464;7240710 11532900;16645504;21224760;16651033;20609517;17182651;15608300;20523302;12600915;17505143;19648777;11465708;19733456;17264819;12941892;17082760;19590241;12053272;11870871;16627550;20736819;21037587;19959384;10432400;14605272;16584113;18448252;15153757;17123734;16424189;19368990;16053521 21492740;21527754;10754298;9931005;9390561;19433914;19420105;19372452;19264973;19155311;19064579;19056482;19032065;19015224;19001328;18996288;18974152;18938112;18845960;18772344;18676680;18636124;18633131;18617779;18615095;18609106;18519809;18424766;18391751;18296082;18194290;18078680;18060687;18006432;17938902;17900259;17895402;17885215;17884099;17804530;17725420;17672867;17653321;17611763;17579663;17471309;17456471;17241867;17057786;17002687;16979977;16908772;16865553;16799040;16675737;16524739;16480760;16478397;16411402;16317113;16314800;16284527;16224053;16144955;16026776;15886814;15871132;15809764;15726664;15681302;15644279;15579768;15489334;15361546;15347678;15256432;15208270;15131578;15118174;14990582;14747189;14657873;14607932;14581400;12975017;12889997;12646802;12626895;12551893;12545080;12535747;12477932;12459434;12234253;12125082;12110009;12076860;12055230;12032878;11909868;11856781;11818437;11781291;11766992;11535497;11391174;11264153;10940926;10731151;10702689;9726990;8125298;7646814;7590284;22383701;10869418;11804551;19913121;20628086;20538655;16344560;17476338;19170196;19369458;19439304;19563789;19571253;19578796;19587779;19625176;19628406;19692168;19755791;19923448;20019415;20038229;20041188;20047517;20102414;20142115;20184883;20237496;20305648;20442634;20453000;20506646;20531015;23086480;20524966;19915801;20974991;20439195;20667981;21038415;20146987;21157378;21278339;21320123;21091093;22572859;22614623;22747084;22916279;23206327;21132346;21525510;23125415;22952674;23414540;21621535;21546901;21636249;21771791;21930959;22313962;22816662;21820915;22233287;22183310;21744265;22064656;20511186;22123179;22261545;22748631;23229614;23584220;22897138;22916723;23388733;23303826;22941344;17151939;18051367;21933397;22086059;22093090;22639377;22731642;22842622 1524 C9JLM2;C9JN40;P49238 ABBA01024808;AC092053;AI400350;AK225764;AK307911;AK312373;AMYH01013099;AY016370;BC017855;BC028078;BG541473;CH471055;DA396634;DA406242;DB274136;EF064744;EU006531;NG_016362;NM_001171171;NM_001171172;NM_001171174;NM_001337;U20350;U28934 AAA87032;AAA91783;AAH28078;AAK08627;ABK41927;ABM81989;ABM85169;ABS29268;BAG35291;EAW64575;EAW64576;NP_001164642;NP_001164643;NP_001164645;NP_001328;P49238 Hs.78913 1660080;1679335;1735232;1792066;1795652;2114192;2156921;2168141;5037552 CX3CR1_554;D3S2853E;D3S2899E;D8S2279;PMC135988P14;RH18026;RH91803;SGC44481;SHGC-44481 CCRL1;CMKBRL1;CMKDR1;GPR13;GPRV28;V28 C-X3-C CKR-1;CMK-BRL-1;CMK-BRL1;CX3C chemokine receptor 1;G protein-coupled receptor 13;G-protein coupled receptor 13;OTTHUMP00000209587;OTTHUMP00000209588;OTTHUMP00000209589;beta chemokine receptor-like 1;chemokine (C-C) receptor-like 1;chemokine (C-X3-C) receptor 1;fractalkine receptor APPROVED protein-coding ENSG00000168329 2558 03277 601470;607339;609423;613784 REVIEWED 1343594 CXCL15 chemokine (C-X-C motif) ligand 15 337989 AF082859 19150 1343759 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) This gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signal through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Jan 2012] 4 4 q21 74953973 74955817 + 74735109 74737019 + 1580863;5134972;5134994;5135240;5134957;4890939;5135449;5135001;5135231;5134979;5131471;4143520;5135245;5135254;5135269;5134978;4145366;5134995;5134996;5135234;5135253;5135456;5134975;5128673;4889415;5134954;5134956;5134983;5135274;5134961;5134970;4891456;5134986;5134960;4889403;5134959;4145368;5135034;5135060;5135270;5135004;5135011;5135252;2307010;4891479;5134993;5134992;5134958;5135062;5134997;5135007;5135271;5134982;5135009;5135249;4145452;4145446;6480464;6484113;6907045;7175314 19951473;21124781;8833037;20958976;20858153;14527170;20117814;18391855;19056659;21442011;19741068;17023518;9766630;11342480;19590302;17348295;21092002;20868517;11052817;10069420;19597126;19671179;21168948;19096963;21356370;21048090;20371397;9698165;20709317;20160675;19515386;19178793;20724665;19497959;20728373;20731855;20818377;21743025;10655268;19818401;19148791;11254553;18642776;19558673;21254154;21535896;20843364;21723409;20232121;19620882;10498645;21109308;19471279;11950713;20656925;20395558;21677145 22129625;12012624;11816717;11524231;11470861;11349045;11023497;10437780;10095777;9152234;8942852;8940121;8702798;8597869;8550564;8397104;8380167;8089846;7806518;7592830;7561066;3264403;2970963;2909392;2890161;2670560;2655583;2217207;2182761;2129556;1906501;1379593;16934308;12089333;12388718;11390582;13679391;15133028;10820279;9079638;9725262;9551928;9058825;10881932;19258923;19176759;19103522;18451219;18283335;18276907;18211687;18065201;18056965;17999991;17703412;17703315;17581194;17466952;17456471;17096385;17062666;17060621;17022986;16617094;16567391;16098041;16086366;15994316;15843053;15492419;15489334;15340161;15218300;14530367;12744776;12734381;12591113;12477932;22975476;20628624;20621720;20731665;18240029;19258312;19430878;19435811;19549892;19780053;19838218;19906815;20042592;20237496;20503287;20195728;18577758;20495539;16712791;20685145;20702723;21042742;16941962;21220697;21075844;23225384;21396766;22615136;21257927;21343381;21531038;22030312;10343098;15896780;21820916;21994122;22770218;22173151;22902060;23505918;22069268;22125641;22183310;21928244;22251138;23479735;23043537;23128233;23334998;23519936;23207068;23269549;23027620;22732298 2919 P09341;Q6LD34 ABBA01022993;AC092438;AMYH01014303;BC011976;BG121608;BM554448;BM996663;BQ000742;BT006880;CB112830;CH471057;HI519534;J03561;JA514411;NM_001511;NR_046035;U03018;X12510;X54489 AAA03452;AAA35933;AAH11976;AAP35526;ABM84517;ABM85867;CAA31027;CAA38361;CBX54348;CCD62019;EAX05693;NP_001502;P09341 Hs.708652;Hs.789 1663969;1690224;1714135;1773715;2124528;2152461 D4S2819;G33800;RH119675;RH17698;SHGC-67281;SHGC4-1010 FSP;GRO1;GROa;MGSA;MGSA-a;NAP-3;SCYB1 C-X-C motif chemokine 1;GRO-alpha(1-73);GRO1 oncogene (melanoma growth stimulating activity, alpha);GRO1 oncogene (melanoma growth-stimulating activity);MGSA alpha;OTTHUMP00000219186;fibroblast secretory protein;growth-regulated alpha protein;melanoma growth stimulatory activity alpha;neutrophil-activating protein 3 APPROVED protein-coding ENSG00000163739 4602 01119 155730 REVIEWED 1352024 CXCL10 chemokine (C-X-C motif) ligand 10 This gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. [provided by RefSeq, Jul 2008] 4 4 q21 77161295 77163674 - 76942269 76944689 - 1580863;2311384;2311358;2311376;1598502;2311365;2311357;2311381;2311356;2311359;2311360;2311361;2311362;2311363;2311364;2311383;1598500;2311388;2311389;2311386;2311355;4892104;5135491;5135443;5135438;5135459;5135283;5135450;5135451;5135435;5135436;5135284;5135441;5135457;5135458;5135490;5135448;5135307;5135489;5135306;5135439;5135440;1598501;5135493;5135305;5135483;5135437;5135445;5135492;5135449;5135452;5135279;5135442;6480464;6907045;5683877 16505038;19046227;18589091;15322218;19170890;19073786;17549754;19187771;17425653;17372021;17194635;16339582;16148094;19232748;17062848;14578618;12909590;9288136;16382022;19509015;15526056;14979941;15956791;17550373;15618188;21124994;14507644;12097412;19218194;17925429;21049277;16709871;16602032;16299319;15725351;14991597;19433855;15764644;19565490;17302903;17052299;15843529;20561238;19816001;18624292;17655904;15265940;9834133;14527170;11994485;21303517;16014397;21273392 21106778;21219680;22136974;10903763;8798675;3925348;19523460;19479051;19472212;19410617;19342664;19327225;19281798;19274094;19203362;19195322;19181310;19155980;19088500;19070948;19065267;19031697;18986693;18985732;18973545;18855195;18798334;18729739;18702954;18684849;18682747;18647352;18645041;18538864;18424889;18415893;18379127;18325387;18282714;18281042;18275857;18259970;18234638;18085351;18046562;18037659;17996064;17963704;17957030;17943641;17912012;17875534;17766680;17763328;17763275;17668902;17652371;17628646;17541284;17505511;17467667;17364892;17255201;17250724;17244787;17211148;17085967;17052298;17018607;16969644;16934957;16931519;16920957;16864907;16825597;16733654;16645011;16581825;16507178;16490936;16243485;16210647;16200621;16195357;16181055;15988033;15944327;15919935;15885315;15880073;15879427;15814716;15745922;15644410;15489334;15307834;15150261;15081261;15081247;15063730;14739277;14630801;14600836;14550288;12946268;12930373;12884299;12856973;12847282;12847218;12819903;12819030;12794718;12737818;12718750;12698106;12668159;12667820;12663757;12603854;12584353;12571234;12539042;12477932;12445801;12441140;12393716;12384933;12356205;12270371;12189440;12173928;12162873;12126650;12117926;12117914;12016104;11897701;11867072;11818520;11559369;11467655;11418676;11401991;11390394;11110785;11083865;21303425;10982368;10233762;10201901;10201891;9705166;22401175;22491449;22652417;21270681;22117591;22621182;9060447;9022006;8423327;8145049;2437586;12089333;11878903;16697675;15518810;9462486;12782716;15315758;23458521;20485444;21099280;20302596;20943047;20648615;18240029;19105984;19175890;19223260;19258635;19342252;19441886;19447045;19459809;19506876;19558503;19590927;19639049;19641142;19694638;19756997;19800124;19817957;19827943;19887486;19901067;19918044;19939453;19969087;20056178;20059481;20137269;20144041;20164184;20186843;20187787;20404089;20485145;16867276;20948191;19880820;20592450;20980518;20137825;20186422;20523065;20041963;20299237;21183794;19821051;20153790;20473322;20525556;20833730;7566098;20680966;20856926;23312578;21475065;21489350;19508602;20626297;21062959;21254158;20929277;21045270;21054674;22160826;22634718;22738089;22746298;22905138;23024806;23011799;21811993;23012327;23272100;23600831;22367045;23150742;21508508;21497908;21390311;21849907;21906079;21454254;21645215;19134328;22800603;22178859;22022583;22058116;22192885;21601475;21725974;21802343;21897004;22053613;21191639;21457060;21531038;21613464;21167783;21649525;21812928;23333920;21966356;22675025;22996399;23056251;23291247;23437705;23505918;21962843;22038159;22008312;22393386;22471703;22697070;21708014;21912394;22037980;22168752;22004287;22496888;22562465;22564606;22989785;23034049;23118858;22809599;22892369;22975476;23352833;23288171;23213058;23542734;23118425;23265968;22896023;17360657;18569454;19941336;20942936;21274647;22472061;22814248;23144331 3627 P02778 AA321649;AA505379;ABBA01063355;AC112719;AMYH01014310;BC010954;BF056337;CH471057;NM_001565;X02530 AAH10954;ABM83712;ABM87032;CAA26370;EAX05772;EAX05773;NP_001556;P02778 Hs.632586 1645677;1650993;1772226;1797452;2137415;2155208 CXCL10__1179;D4S3268;G33388;G33799;SHGC4-1008;STS-X02530 C7;IFI10;INP10;IP-10;SCYB10;crg-2;gIP-10;mob-1 10 kDa interferon gamma-induced protein;C-X-C motif chemokine 10;OTTHUMP00000219215;gamma IP10;gamma-IP10;interferon-inducible cytokine IP-10;protein 10 from interferon (gamma)-induced cell line;small inducible cytokine subfamily B (Cys-X-Cys), member 10;small-inducible cytokine B10 APPROVED protein-coding ENSG00000169245 10637 00930 147310 REVIEWED 1353345 CXCL1P chemokine (C-X-C motif) ligand 1 pseudogene 4 4 q13.3 72169867 72170365 - 74809712 74810210 - 9524820 50612 ABBA01022994;AC097709;AMYH01014303;NG_001275;U88432 GRO1P;GROP;MGSAP;SCYB1P pseudo 10641 INFERRED 1316122 CXCL11 chemokine (C-X-C motif) ligand 11 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. [provided by RefSeq, Jul 2008] 4 4 q21.2 77173859 77176257 - 76954835 76957350 - 1580863;5135435;5135451;5135438;5135436;5135283;5135448;5135459;6480464;6907045 19218194;12097412;17550373;17925429;21124994;14991597;15618188 10233762;18669615;18645041;18515987;18411283;18316607;18275857;18258269;18209084;17363734;17255201;17142784;16368892;16358960;16210647;16200621;16081539;15885315;15814716;15653416;15489334;15308116;15273303;15150261;15122750;12884299;12847282;12787142;12695288;12477932;12169689;12162873;12126650;12055261;11559369;11390394;11110785;10395932;10386863;10065899;9730616;9625760;9370294;8798467;12782716;23012327;22008312;18240029;19175890;19274094;19800124;19875106;19939453;20036838;20056178;15342556;20529825;20810571;20848514;18577758;22160826;23225384;22367045;21438871;21470996;21645215;21442287;22691213;21962843;22168752;21724697;23158864;23600831 6373 O14625;Q96KF0 A82120;ABBA01063355;AC112719;AF002985;AF030514;AF053972;AF077867;AF352781;AMYH01014310;BC005292;BC012532;BC110986;BP289021;BT006787;CH471057;NM_005409;U59286;U66096;Y15220;Y15221 AAB17374;AAC39775;AAC51845;AAD10206;AAD38327;AAD38867;AAH05292;AAH12532;AAI10987;AAK52900;AAP35433;ABM86629;ABW03806;CAA75510;CAB51859;CAB69205;EAX05774;NP_005400;O14625 Hs.632592 H174;I-TAC;IP-9;IP9;MGC102770;SCYB11;SCYB9B;b-R1 C-X-C motif chemokine 11;OTTHUMP00000160594;OTTHUMP00000219213;OTTHUMP00000219214;beta-R1;interferon gamma-inducible protein 9;interferon-inducible T-cell alpha chemoattractant;small inducible cytokine B11;small inducible cytokine subfamily B (Cys-X-Cys), member 11;small inducible cytokine subfamily B (Cys-X-Cys), member 9B;small-inducible cytokine B11 APPROVED protein-coding ENSG00000169248 10638 05329 604852 REVIEWED 1342514 CXCL13 chemokine (C-X-C motif) ligand 13 B lymphocyte chemoattractant, independently cloned and named Angie, is a CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Jul 2008] 4 4 q21 78651931 78752010 + 78432907 78532988 + 1580863;6480464 18566383;9486651;19375853;19258923;19095563;19031272;18792075;18781150;18780835;18773213;18757429;18668547;18354239;18550853;18292286;18528326;18172003;17949547;17709502;17703412;17652619;17592274;17495955;17474076;17082648;17082584;16678487;16543475;16318584;15965952;15934082;15929033;15780119;15546958;15489334;15284119;14763921;12732660;12477932;12406091;12393412;11877260;11708770;11554781;10706668;9463416;16169070;21320077;22607768;22000402;18577758;20400187;20412587;21211990;19671684;19773382;19774453;19805441;19807029;19816883;19955043;19996075;20011704;20042073;20056178;20109310;20223524;20237496;20503287;20495539;17207965;19575892;21084753;22840692;16531331;17562761;21135023;21372118;21645150;22330139;22044682;21305530;21576203;21078761;23570798;21642390;21191639;22008312;22036953;22718279;22335599;22913878;22591862;23189125;23247143;23250934 10563 O43927;Q53X90 ABBA01063371;ABBA01063372;ABBA01063373;AC092674;AC093758;AF029894;AF044197;AJ002211;AMYH01014319;AMYH01014320;BC012589;BI836728;CA418514;CH471057;CR407624;EF064743;NM_006419 AAC14402;AAC17980;AAH12589;AAY40955;ABK41926;ADQ33180;CAA05250;CAG28552;EAX05816;EAX05817;NP_006410;O43927 Hs.100431 1645608;2180519 D4S3265;SHGC-59613 ANGIE;ANGIE2;BCA-1;BCA1;BLC;BLR1L;SCYB13 B-cell chemoattractant;B-cell-attracting chemokine 1;B-cell-homing chemokine (ligand for Burkitt's lymphoma receptor-1);B-lymphocyte chemoattractant;C-X-C motif chemokine 13;CXC chemokine BLC;OTTHUMP00000160704;b cell-attracting chemokine 1;b lymphocyte chemoattractant;chemokine (C-X-C motif) ligand 13 (B-cell chemoattractant);small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant);small-inducible cytokine B13 APPROVED protein-coding ENSG00000156234 10639 05513 605149 VALIDATED 1602051 CXCL17 chemokine (C-X-C motif) ligand 17 19 19 19 q13.2 39733484 39747927 - 47624535 47638976 - 42932695 42947136 - 6480464 17201934;16989774;16455961;15340161;12975309;12477932;19657564;20955708;21586597;22425983;22611239 284340 Q6UXB2 ABBA01040847;AC011497;AK292985;AMYH01009832;AY358433;AY598464;BC093946;BC112095;NM_198477 AAH93946;AAI12096;AAQ88799;AAU04875;BAF85674;NP_940879;Q6UXB2 Hs.445586 1683757 RH98494 DMC;Dcip1;MGC138300;UNQ473;VCC-1;VCC1 C-X-C motif chemokine 17;VEGF co-regulated chemokine 1;dendritic cell and monocyte chemokine-like protein protein-coding 19232 18264 611387 PROVISIONAL 737223 CXCL12 chemokine (C-X-C motif) ligand 12 This gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] 10 10 q11.1 44185611 44200548 - 44865605 44880545 - 2306577;2301942;2306559;2306554;2306564;2306567;632503;2306307;2306556;2306557;2306560;2306561;2306563;2306562;2306555;2306558;2306579;2306553;2306568;2306575;2306570;2317610;2317609;2317608;6480464;6480655;6484113;6907045;7240710 18206136;18793419;15630447;18384776;19327017;19187644;11820456;11438578;17950070;17878289;14522095;14679085;11334429;12383202;18201529;16723689;17557270;18451752;19054393;18454663;18709383;12761880;15978329;19013212;21382035 20609598;21257825;19198609;10550315;10772939;10491003;10802710;8752280;10198043;10620615;10570282;19646633;19605814;19559392;19523923;19521120;19501493;19497995;19496172;19472013;19438749;19409379;19394082;19381432;19373784;19342158;19339694;19336886;19327121;19307591;19302975;19295169;19289100;19285061;19282275;19263529;19252530;19247692;19215683;19199057;12001056;11994484;11988632;11964548;11953881;11950063;11929756;11912162;11898620;11884424;11877260;11870628;11867624;11865429;11860823;11860793;11830456;11729511;11709782;11694103;11693435;11591806;11571304;11504955;11390394;11389173;11328308;11242036;11241273;11027346;11023498;11023492;10954912;10644702;10600606;10583963;19196101;19139298;19131662;19124913;19115008;19082444;19074885;19064579;19059114;19035451;19032065;19028820;19019853;19017978;18974840;18954561;18954402;18949410;18936436;18930992;18928845;18928397;18924211;18855658;18845960;18829537;18814143;18802065;18799424;18781098;18775666;18774952;18774388;18763111;18760838;18757300;18698020;18692524;18687671;18670789;18653785;18648536;18634924;18633131;18632989;18599607;18577527;18575756;18563594;18558091;18556651;18521742;18512766;18502034;18487224;18469140;18448868;18448428;18443596;18391751;18386165;18383856;18365549;18357387;18354239;18351386;18339898;18337451;18323525;18317966;18316470;18310089;18292939;18292502;18292211;18281050;18276777;18275857;18227351;18223219;18206727;18205260;18191726;18097955;18086932;18060801;18040858;17982648;17964973;17950696;17949547;17923814;17916907;17914737;17898317;17894415;17878755;17846797;17805324;17785557;17784832;17768666;17724466;17706641;17687643;17681365;17653799;17653321;17650669;17634449;17634424;17631494;17604544;17572689;17560067;17559806;17550983;17532557;17530998;17530707;17510563;17507482;17461449;17413295;17409218;17393416;17379424;17357154;17340464;17264079;17245764;17240189;17237407;17197116;17174272;17148615;17143542;17119115;17099730;17082613;17075134;17056591;17046575;17038674;17038526;17034033;17015707;16990599;16977794;16964435;16960937;16948905;16948134;16943240;16929176;16923552;16905744;16875673;16865553;16857992;16823956;16823836;16818471;16782208;16779827;16756955;16703398;16648972;16626895;16611258;16529059;16507142;16503409;16494621;16489019;16485782;16480760;16306115;16286055;16286054;16284526;16261210;16249700;16227796;16206074;16177829;16159864;16148115;16123688;16114056;16112086;16107333;16033774;15998835;15987445;15980693;15972632;15965952;15955592;15921680;15917309;15888687;15882617;15872091;15844659;15843590;15840658;15831676;15819887;15809737;15808852;15805285;15793201;15754978;15753365;15728464;15718416;15718415;15707999;15701832;15699497;15681827;15677562;15641073;15639953;15630457;15611059;15608062;15588513;15585097;15575507;15548717;15536181;15533859;15504551;15489334;15475370;15467730;15454484;15381727;15358596;15345598;15328206;15319853;15302103;15292258;15286810;15240098;15236615;15235108;15223017;15192272;15166527;15164054;15146553;15140377;15076247;15048928;15033938;15026312;15021309;14995074;14973260;14871974;14764445;14757413;14688392;14684377;14630801;14624371;14623290;14600836;14555820;14525775;13130466;12960279;12953097;12907452;12907449;12882655;12865405;12860456;12834106;12817019;12783869;12783211;12775566;12769333;12766157;12750733;12730110;12705474;12702590;12692604;12605695;12591904;12571520;12557141;12511407;12485835;12482395;12477932;12444109;12436194;12393663;12393569;12370187;12239174;12239139;12215924;12201365;12176869;12149427;12135674;12088413;12068293;12044982;12036857;12036856;12034737;12032878;12004084;10438529;10358157;10233851;10196252;9743377;9710254;9618518;9558100;9384579;8752281;7490086;16343773;11287575;11162626;10820198;10486323;10430052;9653130;9601645;9744279;10872839;9826729;15972662;12787886;16188969;15748209;15710459;15113900;10582593;8976200;15857508;12354773;11083865;15183061;21781514;22088972;22664794;22688512;21298365;21312072;21968974;22127289;22469823;22526457;22549778;21440782;21444670;15059845;21147466;20646340;19615279;20177148;20362069;20484957;20501749;20622011;19913121;20133349;20497701;20536507;20563451;20585037;20603037;20622326;20628086;20694560;20695076;20725607;22736769;16344560;16385451;17355795;18240029;18549608;19260802;19280118;19335218;19372622;19443661;19460858;19476565;19500134;19508998;19520808;19550128;19551455;19568410;19601773;19639049;19654580;19660434;19669591;19672298;19692460;19695308;19700239;19717493;19718053;19745163;19765831;19773382;19788587;19794961;19808652;19816012;19821058;19825996;19826039;19826912;19834823;19837984;19851296;19878731;19885584;19917679;19921580;19923906;19927352;19942750;19958843;20018929;20025867;20028644;20036838;20038229;20067991;20072657;20077567;20084476;20102637;20104779;20109227;20109310;20118565;20134207;20163833;20181695;20182908;20198315;20206813;20237496;20299965;20348095;20388788;20406099;20411675;20442634;20518834;20530467;20531015;20865359;20629629;20869048;20585996;20631377;20728717;20887389;20923761;21041659;21082982;20141446;20540706;21349176;21361865;21396623;21463876;20088916;20196627;20392929;18851783;19615218;17456315;19774645;18836306;19513623;19563077;21435112;21667221;22025313;22074556;22173290;22492017;22581230;22044645;22333149;22336440;22553346;20020198;20305788;20637871;21059341;20331475;20414828;20558135;20738937;20802378;20851290;20970672;20971364;18577758;20177796;20634887;20661426;20877573;21148034;21607655;21695171;21802105;21868522;18788547;21182836;21378990;21071025;21132258;20563655;21158728;21091093;20383584;20889568;21087507;21410972;22842611;22975476;22738089;23042661;23078136;22386691;22916293;22962615;22535492;22683307;22784557;22905867;22952422;23148226;21179442;21357602;21487523;19379578;21296802;21592819;20854168;21186999;21470957;21506920;21618080;21442287;21459858;21304904;21705626;21853930;21705836;21774929;21856938;20015878;20145264;21584490;21624427;22846168;21818756;21633638;23599431;22762525;22995914;21349998;21372218;21909361;21484857;21292343;21757744;20462600;21518481;21906588;21906874;21921288;21853036;21878648;21910857;22496601;21465475;21840752;22075627;22095608;22270883;23039915;23070788;23207101;23259294;21527066;21953583;21964561;22311941;22427929;22450749;21623830;21802140;21856785;21878545;22025564;22008312;22430135;21994039;22228277;21080209;21521526;21567400;21607621;21643956;21740294;21753787;21948620;21951424;21960286;22015231;22071114;22077991;22092872;22114110;22128293;22142194;22166550;22200847;22220212;22220905;22232208;22253872;22301555;22370717;22415233;22490648;22613469;22245379;22670173;22675496;22125123;23143873;23149815;22704519;21988832;22727731;22767589;22848341;23053994;23098564;23023114;19287206;22932666;23133664;23454481;23468253;23473997;23495012;23502337;23526079;23538388;23543442;23563306;23571274;23588307;23591873;23602049;23619587;23637121;9828130;22978759;23129313;23212062;23434321;21602126;22362916;18267010;18707241;18709948;18760839;19526283;19641037;19661268;20015995;20817073;20835359;20929726;20967243;22101518;22169298;22169299;22473778;22690919;22779681;22844345;22939870;22954308;20494937;22495096;22554649;22568557;22710983;22513751;22529914;23325742;23531450;22954782;22987307 6387 H7BYN8;Q9H554 ABBA01050018;AI092156;AJ227905;AK090482;AK124641;AK292628;AK311814;AL137026;AL713778;AMYH01002295;AU120056;AW014388;AY644456;AY802782;AY874118;BC031072;BC039893;BX647204;CD172464;CH471160;CR450283;CS131913;CS131917;DA266752;DQ345517;DQ345518;DQ345519;DQ345520;L36033;L36034;NG_016861;NM_000609;NM_001033886;NM_001178134;NM_001277990;NM_199168;U16752 AAA97434;AAB39332;AAB39333;AAH39893;AAT76437;AAV49999;AAW82036;ABC69270;ABC69271;ABC69272;ABC69273;BAC03463;BAF85317;BAG34757;CAD28539;CAG29279;CAJ21099;CAJ21100;EAW86618;EAW86619;EAW86620;EAW86621;NP_000600;NP_001029058;NP_001171605;NP_001264919;NP_954637;P48061 Hs.522891 1648302;1665995;1671436;1736076;2118713;2137857;2161500;2174422;2218452 CXCL12__1181;D10S1350E;D10S2188;G17474;G30000;RH44662;RH44690;SGC33589;SGC33789 IRH;PBSF;SCYB12;SDF-1a;SDF-1b;SDF1;SDF1A;SDF1B;TLSF;TLSF-a;TLSF-b;TPAR1 OTTHUMP00000019491;OTTHUMP00000019492;OTTHUMP00000216979;OTTHUMP00000216980;intercrine reduced in hepatomas;pre-B cell growth-stimulating factor;stromal cell-derived factor 1 APPROVED protein-coding ENSG00000107562 10672 02904 600835;609423 REVIEWED 1354459 CXCL16 chemokine (C-X-C motif) ligand 16 17 17 p13 4583577 4589972 - 4636828 4643223 - 1580863;5135279;6480464 21303517 11060282;11290797;11017100;18373975;19575365;19528340;19494317;19435795;19415545;19258923;19070478;18760678;18636150;18565283;18514099;18480749;18344492;18339644;18293410;18279707;18250446;18248772;18195710;18194461;17855433;17803654;17703412;17363916;17300746;16849465;16431903;16200580;16142401;15934948;15883016;15836657;15634930;15555552;15489334;15128827;14988089;22454615;14702039;14699018;14634054;14625285;12975309;12902461;12477932;19674076;18577758;20960183;17207965;18240029;19578796;19605674;19690611;19729872;19919988;19954776;20334513;20503287;19913121;20621591;20628086;20646641;20848509;21233446;21832049;21845497;22863086;21468586;21467783;21505717;21492481;21471570;21612780;21773780;19426159;21638128;22055341;22113484;22378888;19322201;21527066;22278019;22627199;23229614 58191 I3L333;Q9H2A7 ABBA01054772;AC091153;AF275260;AF301016;AF337812;AK027389;AK292114;AK315017;AMYH01008042;AY358909;BC017588;BC044930;CA307348;CH471108;DC373874;EF064742;NM_001100812;NM_022059 AAG31750;AAG34365;AAH17588;AAH44930;AAK38275;AAQ89268;ABK41925;ADQ32484;BAB55078;BAF84803;BAG37507;EAW90416;NP_001094282;NP_071342;Q9H2A7 Hs.745037 1697918;1699510;2162217;5015961;5022651 D11S2921;D15S1477;RH102488;RH103349;STS-W86753 CXCLG16;SR-PSOX;SRPSOX C-X-C motif chemokine 16;CXC chemokine ligand 16;OTTHUMP00000115953;scavenger receptor for phosphatidylserine and oxidized low density lipoprotein;small-inducible cytokine B16;transmembrane chemokine CXCL16 protein-coding ENSG00000161921 16642 16103 605398 VALIDATED 735621 CXCL2 chemokine (C-X-C motif) ligand 2 4 4 q21 75181616 75183861 - 74962752 74964997 - 1580863;5134975;5135233;5135236;5135269;5134960;5134961;5135002;5135064;5134974;5135026;5135056;2306999;5135068;5135449;5135271;5134984;5129686;5135252;5135254;5135255;4891479;5135234;5135023;4145114;5135025;5135253;5135034;5135062;2307010;5135247;5135251;5135235;5134959;5134970;4891456;4891425;5135037;5135230;5135231;5135024;5135065;5135036;5135270;5135060;5147925;6480464;6907045 19671179;18364083;17804032;11342480;20724665;20709317;20096665;21549112;19691980;21251691;19794970;19210118;18830379;14527170;10498645;20065113;20045013;11254553;9766630;9284162;19558673;11052817;21618001;20220550;21277990;10069420;20818377;21723409;18642776;15557650;11580116;18367723;20728373;20160675;19515386;20967263;20454613;18434445;18391855;21301926;19239431;20472255;10655268;21743025;19106808 9873037;2643119;19435811;19369450;19258923;18835392;18322244;18191274;17999991;17944017;17703412;17466952;16697212;16421598;15614130;15489334;12892904;12556377;12508094;12477932;12419803;11559650;11134351;10928473;10725737;10600366;9843467;9277410;9260277;8702798;7864661;2341726;2217207;2201751;2129556;2078213;1906501;21738479;22770218;2834384;18240029;20056178;20162422;20185584;20237496;21145461;18577758;19912257;21220697;23225384;22615136;21738478;21677836;18624398;22056994;21988832;23372021;12456657;23021568;21630055;23128233;22771802 2920 P19875;Q6LD33 ABBA01022994;AC093677;AF043340;AMYH01014303;BC015753;BC053653;BX334969;CH471057;CR542171;M36820;M57731;NM_002089;U03019;X53799 AAA03453;AAA63182;AAA63183;AAC03540;AAH15753;CAA37808;CAG46968;EAX05700;EAX05701;NP_002080;P19875 Hs.75765 1797456;2124528;2132555;2137128;2152461;2154488 CXCL2_1876;D4S2819;D4S3343;RH17698;RH69945;SHGC-67843 CINC-2a;GRO2;GROb;MGSA-b;MIP-2a;MIP2;MIP2A;SCYB2 C-X-C motif chemokine 2;GRO2 oncogene;MGSA beta;MIP2-alpha;OTTHUMP00000219185;gro-beta;growth-regulated protein beta;macrophage inflammatory protein 2-alpha;melanoma growth stimulatory activity beta protein-coding ENSG00000081041 4603 00741 139110 VALIDATED 1348459 CXCL3 chemokine (C-X-C motif) ligand 3 4 4 q21 75121170 75123354 - 74902306 74904490 - 1580863;5135245;5135236;5135231;5135234;5135240;6480464 17023518;17804032;18391855;11052817;8833037 10095777;19448742;19369450;19258923;17703412;17466952;17389786;16356540;16341674;15489334;15340161;12734364;12477932;9873037;9322516;9277410;8702798;8344798;8166297;2217207;2201751;2129556;1906501;20628624;2834384;18577758;18240029;19741597;20056178;20162422;20237496;20503287;23225384;23023221;23589610;23128233 2921 P19876;Q6LD32 ABBA01022994;AC097709;AK307064;AK311367;AMYH01014303;AW079760;BC016308;BC065743;BM828712;CH471057;HI519536;M36821;NM_002090;U03020;X53800 AAA03454;AAA63184;AAH16308;AAH65743;AAY41006;ABW03903;ACE86488;ACE87169;CAA37809;CBX54349;EAX05697;EAX05698;NP_002081;P19876 Hs.89690 1714135;1795654;1850690;2163076;2185846 CXCL3_1819;RH119675;SHGC-35359;SHGC-67271;STS-M36821 CINC-2b;GRO3;GROg;MIP-2b;MIP2B;SCYB3 C-X-C motif chemokine 3;GRO-gamma;GRO-gamma(1-73);GRO3 oncogene;MGSA gamma;MIP2-beta;OTTHUMP00000219183;growth-regulated protein gamma;macrophage inflammatory protein 2-beta;melanoma growth stimulatory activity gamma protein-coding ENSG00000163734 4604 00742 139111 VALIDATED 1316586 CXCL14 chemokine (C-X-C motif) ligand 14 This gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Jul 2008] 5 5 q31 134934274 134942868 - 134906369 134914969 - 1580863;6480464 19172796;20460740;10049774;11256614;19276362;19258923;19218429;19109182;18809336;18765527;18762809;18676742;18054154;17703412;16987528;16884687;16381901;16303743;16175604;15843547;15651028;15548693;15489336;15489334;14702039;12975309;12477932;11561000;11076863;10946286;10854217;8889548;20628624;19339694;19833716;19834535;19903701;20056178;20212097;20237496;20379614;20424473;20460540;20503287;20067447;20562917;20478268;20815772;21832049;23294544;20737948;21556757;22382027;21988832;22910931 9547 O95715 AB543622;ABBA01068725;AC034206;AF073957;AF086340;AF106911;AF144103;AI743431;AK056613;AK075514;AMYH01015629;AW614568;AY358906;BC003513;BM670989;BT007080;BU729234;BX106404;CS051437;NM_004887 AAD03839;AAD38944;AAF78449;AAH03513;AAP35743;AAQ89265;BAG52160;BAI78370;CAI72212;CAL37718;NP_004878;O95715 Hs.483444 1721709;1797454;1850057;2136043;2165906 A002I14;A005K28;CXCL14__2459;G59717;WI-13424 BMAC;BRAK;KS1;Kec;MGC10687;MIP-2g;MIP2G;NJAC;SCYB14;bolekine C-X-C motif chemokine 14;CXC chemokine in breast and kidney;MIP-2 gamma;OTTHUMP00000159410;bolekine;breast and kidney;chemokine BRAK;small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK);small-inducible cytokine B14;tumor-suppressing chemokine APPROVED protein-coding ENSG00000145824 10640 16049 604186 REVIEWED 1348297 CXCL5 chemokine (C-X-C motif) ligand 5 This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013] 4 4 q13.3 75080223 75083280 - 74861359 74864416 - 1580863;5135243;5135247;5135252;4143520;5135272;5135241;4145490;5135250;5135257;5135269;5135275;5135260;5135270;5135267;5135264;5135245;5135254;5135255;5135259;5135265;4143190;5135251;5135256;5135268;5135248;5135249;5135242;5135244;5135271;5135258;6480464;6907045 17234659;15557650;11254553;19741068;10358204;20137269;19846873;11751193;19153309;11342480;7749835;16085216;10655268;21031438;12751040;17023518;9766630;9284162;18410262;9620668;8810593;11580116;7814607;18413816;12857718;11950713;18417511;17052298;10498645;18432520 10820279;7929219;10463948;19258923;19035625;18769620;18570917;18320069;17878384;17761179;17703412;17549409;17479287;17428364;17022986;16635746;16574090;22197219;22274300;15714497;15489334;15021975;14967364;14711052;14644041;13679391;13679321;12950257;12680872;12665801;12477932;11468158;11106948;10095777;10068592;9692902;9365115;9252512;8702798;8580362;8083342;7999089;7828901;1744577;16567110;20501684;19567485;18240029;18413205;19047312;19258635;19356715;19506876;19646363;19724852;19838218;20503287;21034724;20630876;18577758;21229889;20945384;21332547;22711685;21734176;21609350;21779896;22125641;23245743;10343098;16618752;22943113;23045282;23439434;23469080;9164944;22916037;23128233 6374 P42830;Q6I9S7 ABBA01022994;AC097709;AF349466;AJ315732;AK026546;AK312128;AMYH01014303;BC008376;BT006807;BU169770;BU626570;CB529782;CH471057;CR457428;DN992282;FB342965;FB711088;L37036;NM_002994;U12709;X78686 AAA62475;AAA86426;AAH08376;AAK29641;AAP35453;AAY41005;ABM86473;ABW03807;BAG35064;CAA55355;CAC42884;CAG33709;CAR81483;CAS91499;EAX05696;NP_002985;P42830 Hs.89714 1659079;1793188;2123782;2136767;2154051;2174019;5114072 D4S873;PMC201041P1;SHGC-59754;SHGC-67260;SHGC-67680;SHGC-67727;STS-X78686 ENA-78;SCYB5 C-X-C motif chemokine 5;ENA-78(1-78);OTTHUMP00000219197;epithelial-derived neutrophil activating protein 78;epithelial-derived neutrophil-activating peptide 78;epithelial-derived neutrophil-activating protein 78;neutrophil-activating peptide ENA-78;neutrophil-activating protein 78;small inducible cytokine B5;small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78);small-inducible cytokine B5 APPROVED protein-coding ENSG00000163735 10642 08976 600324 REVIEWED 1345336 CXCL6 chemokine (C-X-C motif) ligand 6 4 4 q13.3 74921277 74923341 + 74702273 74704477 + 1580863;4892029;4892030;4892031;6480464;6907045 20650015;20659080;15988615 8399143;9164944;19369450;19258923;19240061;18782286;18563170;18443119;17827342;17703412;17022986;15815621;15652347;15489334;15342556;15214047;12882792;12628493;12591113;12533683;12524079;12477932;10593335;10343098;9692902;9465307;9057843;8423327;12950257;20507572;20628624;18240029;18842116;20503287;18577758;21236563;22886775;23128233 6372 D6RF92;P80162 ABBA01022993;AC108029;AK311981;AMYH01014302;BC013744;BP204144;CH471057;NM_002993;U81234;U83303;Y08770 AAC51338;AAD00506;AAH13744;AAY40939;ABM82426;ABM85618;BAG34920;CAA70023;EAX05690;NP_002984;P80162 Hs.164021 1656671;1793190 PMC201041P2;RH70711 CKA-3;GCP-2;GCP2;SCYB6 C-X-C motif chemokine 6;OTTHUMP00000160479;OTTHUMP00000218985;Small inducible cytokine subfamily B (Cys-X-Cys), member b;chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2);chemokine alpha 3;granulocyte chemotactic protein 2;small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2);small-inducible cytokine B6 APPROVED protein-coding ENSG00000124875 10643 00735 138965 VALIDATED 1349760 CXCR2P1 chemokine (C-X-C motif) receptor 2 pseudogene 1 2 2 2 q35 212691766 212693901 - 218632123 218634258 - 218923878 218926013 - 12477932;8486366;1427896;1303245 3580 ABBA01006024;AC010136;AMYH01011494;BC033255;M98335;NR_002712;X65859 Hs.647858 1768115;1778518;1792636;2135246 PMC155779P2;RH69171;SHGC-35278;STS-L19593 CXCR2P;IL8RBP APPROVED pseudo 6028 PROVISIONAL 1348195 CXCL9 chemokine (C-X-C motif) ligand 9 The function of this gene has not been specifically defined; however, it is thought to be involved in T cell trafficking. This gene has been localized to 4q21 with INP10, which is also a member of the chemokine family of cytokines. [provided by RefSeq, Jul 2008] 4 4 q21 77141647 77147665 - 76922623 76928641 - 1580863;5135449;5135450;4892104;5135435;5135440;5135459;5135443;5135441;5135445;5135456;5135283;5135451;5135436;5135307;5135447;5135490;4891446;4892070;5135285;5135306;5135308;5135305;5135438;5135448;5135437;5135444;1598501;5135279;4891406;5135442;6480464;6484113;6907045;5683877 14527170;14507644;15526056;19218194;17052299;15618188;15956791;16709871;15265940;19597126;21124994;12097412;17925429;19433855;15210824;15725351;19906920;19229703;20381636;19565490;19281538;19816001;17550373;14991597;17655904;15916706;15843529;21303517;20182399;16014397;21273392 11449350;11423172;11422029;11390394;11208713;11157474;11110785;10233762;9730616;9660793;8976378;7595201;2115167;11523044;10903763;8476424;10570316;10201891;10201901;19410617;19344719;19340290;19274094;19258923;19157479;18415893;18338951;18292502;17975089;17892861;17875534;17703412;17703315;17490641;17262710;17255201;16583210;16243485;16210647;16200621;15489334;15150261;15113590;15081261;14550288;12946268;12884299;12856973;12847282;12782716;12539042;12477932;12384933;12270371;12185171;12162873;12107104;18240029;18413205;18930766;19258635;19459809;19639049;19800124;19898927;20038462;20237496;20503287;19087608;2834384;20137825;19929857;20456109;17207965;20299237;20485444;20628624;20810571;20838432;23012327;21475065;21179030;20626297;22889476;23150742;22367045;22333315;22905138;21470996;19134328;21167783;21645215;21601475;21812928;22580676;22586042;22401175;21962843;22037980;22467521;22689822;21988832;23352833;23600831;22766105;20942936;23179902 4283 Q07325 ABBA01063355;AC112719;AK311852;AMYH01014310;BC025745;BC042178;BC063122;BC095396;CH471057;NM_002416;X72755 AAH63122;AAH95396;ADQ32101;BAG34794;CAA51284;EAX05763;EAX05764;NP_002407;Q07325 Hs.77367 1795656;1855250;1858466;1858468;2145556;2145558;2157780;2157782 CXCL9_560.2;D4S3297;D4S3315;G33390;SHGC-12003;SHGC-50181;SHGC-60006;STS-X72755 CMK;Humig;MIG;SCYB9;crg-10 C-X-C motif chemokine 9;OTTHUMP00000219216;gamma-interferon-induced monokine;monokine induced by gamma interferon;monokine induced by interferon-gamma;small-inducible cytokine B9 APPROVED protein-coding ENSG00000138755 7098 03416 601704 REVIEWED 1346238 CXorf10 chromosome X open reading frame 10 q26 14702039 93949 AK021694 Hs.504534 FLJ11632 protein-coding 15976 1350447 CXCR3 chemokine (C-X-C motif) receptor 3 This gene encodes a G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig (monokine induced by interferon-g), CXCL10/IP10 (interferon-g-inducible 10 kDa protein) and CXCL11/I-TAC (interferon-inducible T cell a-chemoattractant). Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the isoforms (CXCR3-B) shows high affinity binding to chemokine, CXCL4/PF4 (PMID:12782716). [provided by RefSeq, Jun 2011] X X q13 70752491 70755092 - 70835766 70838367 - 633970;1598500;1580863;1598501;1598502;2311364;2311376;2311381;2311383;5135492;5143937;4145620;5143934;5135435;5135486;5135506;5135279;5135451;5135441;5135509;5135446;5135487;5135491;5135459;5143932;4892088;4892119;5135501;4145632;4892104;5135445;5135484;5135448;5135483;5135442;5135493;6480657;6480464 8666380;14578618;15843529;15322218;19232748;18589091;17549754;17062848;9834133;15884054;19842835;16043121;19218194;17086735;21038468;21303517;12097412;16709871;16434036;15254596;16885372;14979941;15618188;16548899;18094012;19039768;17298426;19017998;15526056;15265940;17641057;14991597;18624292;16014397;20561238;21087446 21303425;10942362;10741397;10903763;10903743;9064356;19344719;19258923;19106589;18962861;18832436;18798334;18761554;18729739;18689270;18616679;18497951;18485912;18453591;18375741;18291705;18280341;18174362;18037659;17947699;17912012;17703412;17615381;17560677;17457216;17363734;17339184;17251291;17142784;17142783;17018607;16934957;16930533;16861617;16847335;16806233;16787707;16733654;16679918;16456020;16455991;16368892;16339779;16243485;16127166;16034118;16033640;15885315;15879427;15856455;15808644;15725351;15713799;15687242;15578697;15528361;15501397;15489334;15328188;15273303;15265234;15181567;15155273;15150261;15126579;14742268;14657006;14630801;14618028;12960302;12960247;12953097;12919091;12884299;12819030;12782716;12750173;12688353;12571234;12517959;12477932;12445801;12444109;12425561;12356205;12270371;12070001;12055238;12016104;11990865;11966764;11739530;11714650;11559369;11554781;11196695;11160352;11134180;10900358;10666479;10627472;10393705;10233762;9660793;9625760;9466968;9419219;15518810;11083865;20429924;17666357;18240029;19380511;19539215;19641142;19703720;19734217;19735481;19758167;19767105;19800124;20047517;20059481;20079227;20096889;20164417;20237496;20503287;2834384;20379873;20041963;20185576;20203286;20228225;20377416;20485444;20529825;20733031;20848514;20856926;20980681;21051441;21091908;20855888;21255008;21148743;22689289;21739422;21811993;22936405;21357438;19134328;21426802;22079021;21538345;21645215;22236567;21962843;22111598;22392992;22401929;22369302;22262158;22675496;22796894;23158864;23298254;23600831;22798340;21274647;22792160;23179902 2833 P49682 AB032735;AB032736;ABBA01067767;ABBA01067768;AF469635;AK313679;AL590763;AMYH01022537;AY242128;BC034403;CH471132;CQ834242;HI574346;NG_029076;NM_001142797;NM_001504;U32674;X95876;Z79783 AAC50505;AAH34403;AAO92295;AAP55851;ABM83386;ABM86599;BAA92297;BAA92298;BAG36429;CAA65126;CAB02143;CAH05336;CBX47662;EAX05283;NP_001136269;NP_001495;P49682 Hs.198252 1657191;1792070;1793178;2131399 PMC135988P3;PMC198541P1;RH47042;STS-X95876 CD182;CD183;CKR-L2;CMKAR3;GPR9;IP10-R;Mig-R;MigR C-X-C chemokine receptor type 3;CXC-R3;CXCR-3;G protein-coupled receptor 9;IP-10 receptor;IP10 receptor;Mig receptor;OTTHUMP00000032170;OTTHUMP00000070257;chemokine (C-X-C) receptor 3;interferon-inducible protein 10 receptor APPROVED protein-coding ENSG00000186810 4540 02936 300574 REVIEWED 1353194 CXCR1 chemokine (C-X-C motif) receptor 1 The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008] 2 2 q35 218735813 218739961 - 219027568 219031716 - 1580863;6480464;6907045;7207862;7240710;7207863;7207860;7207859;7207864 21151974;20649681;22325052;23336303;17786197 1840701;8381837;10734056;10725748;19401689;19151925;19118103;19019335;19012493;18818748;18676870;18676680;18667484;18059279;18025257;17996233;17876799;17672867;17604950;17596666;17361014;17360650;17296422;17295203;17207897;17204468;17169533;17026468;16987681;16950632;16897191;16679868;16500343;16411061;16406804;16205979;16098254;15946947;15902300;15815621;15793866;15772681;15764156;15641067;15618253;15598788;15579377;15556942;15545821;15489334;15454487;15292066;15265017;15133028;15028716;14713106;14688334;12870115;12651900;12628493;12576754;12535747;12477932;12442335;12239185;12077146;12055238;12002274;11397869;11196695;11007922;10843722;10593335;10570306;10368283;9843397;9692902;9260277;8903513;8702798;8662698;8500355;8486366;8384312;8316840;8195702;8077663;7929358;7868904;7829970;7650389;7527448;1427896;1379593;1303245;21452410;19913121;20628086;11564821;18240029;19423540;19505916;19527514;19573080;19585580;19625176;19681642;19692168;19735481;19773279;19773451;19890050;20016196;20016852;20044480;20089160;20237496;20406964;20438785;20452482;20453000;20811626;21042230;2834384;18577758;20630874;21048114;21036625;21297633;16621978;21323370;23086146;23525041;22076427;22152684;22489883;22763101;21915051;19634663;21555225;22019593;22171941;22482416;22024025;21749879;22174157;22262769;21989491;22242662;22051099;21988832;22936990;22088968;22626766;23349885;23128233;22563025;23470693;22904195 3577 B4DQ59;Q6IN95 AB032728;AB032729;AB032730;AB032731;AB032732;ABBA01023877;AC097483;AK298647;AK309632;AK312668;AMYH01011494;AY651785;AY916762;AY916763;AY916764;AY916765;AY916766;AY916769;AY916772;AY916773;BC028221;BC072397;CA425329;CH471063;CR541994;CR542029;L19591;L19592;M68932;NG_011814;NM_000634;U11870;U11871;X65858 AAA59159;AAA59160;AAA64378;AAA64379;AAB59436;AAH28221;AAH72397;AAT46689;AAX93212;AAY21512;AAY21513;AAY21514;AAY21515;AAY21516;AAY21519;AAY21522;AAY21523;ABM82644;ABM85821;BAA92290;BAA92291;BAA92292;BAA92293;BAA92294;BAG35550;BAG60821;CAA46688;CAG46791;CAG46826;EAW70590;NP_000625;P25024 Hs.194778 1792056;1792634;1792636;1793968;2130931;2156682 D2S2592;PMC135988P1;PMC155779P1;PMC155779P2;PMC310709P2;RH70867 C-C;C-C-CKR-1;CD128;CD181;CDw128a;CKR-1;CMKAR1;IL8R1;IL8RA;IL8RBA C-X-C chemokine receptor type 1;CXC-R1;CXCR-1;IL-8 receptor type 1;IL-8R A;OTTHUMP00000164140;high affinity interleukin-8 receptor A;interleukin 8 receptor, alpha;interleukin-8 receptor type 1;interleukin-8 receptor type A APPROVED protein-coding ENSG00000163464 6026 00908 146929;609423 REVIEWED 735299 CXCR2 chemokine (C-X-C motif) receptor 2 The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009] 2 2 q35 218698991 218710220 + 218990013 219001976 + 1580863;5131210;5134954;5135252;5135034;5134955;5134989;5134975;5135248;6480464;6907045 19864593;21356370;11254553;20818377;21330942;18836137;19671179;12857718 10438939;10725748;9725262;10878382;19573080;19435811;19401689;19258923;19155217;19151925;19147552;19118103;19067586;19057948;19035451;19026125;19012493;19010874;18852457;18780829;18755694;18676870;18633131;18555777;18307412;18292390;18244953;18208820;18199703;18025257;17996233;17949231;17939034;17709521;17703412;17672867;17630697;17604950;17435771;17360650;17295203;17272812;17204468;17142783;17003486;16990258;16987681;16897191;16793206;16702372;16679868;16411061;16406804;16272353;16260092;16098254;16086366;15946947;15793866;15772681;15630732;15626158;15618253;15598788;15545821;15489334;15479720;15454487;15364949;15358660;15265017;15063762;15028716;15004234;14967163;14713106;12975484;12888558;10820279;12870115;21441140;12633567;12628493;12620646;12606476;12496258;12477932;12453441;12442335;12239185;12176324;12164325;11818437;11751889;11524231;11435493;11397869;11278485;11196695;11170396;11138777;11023990;11007922;10943863;10881932;10734056;10688807;10593335;9843397;9692902;9651375;9464567;9260277;9079638;9058825;8940121;8702798;8662698;8626516;8550564;8384312;8316840;8294449;8195702;8194768;8036519;7929358;7829970;7512557;1891716;1840701;1427896;1379593;1303245;22617157;21670971;19913121;20485444;20628086;20673868;20429924;15452121;16344560;18240029;18462836;19170196;19423540;19435808;19549892;19585580;19750480;19773279;19887480;19890050;19904283;20005738;20016196;20016852;20044480;20056178;20070156;20089160;20237496;20406964;20438785;20452482;20453000;20468071;20503287;20540789;20140262;20568250;20802378;21042230;20519647;2834384;18577758;20580690;20635912;20630874;20505188;21106938;16621978;21036625;21297633;20419088;20018298;22076427;22152684;22763101;23479735;21343381;21555225;21876773;22117410;19634663;21915051;21948388;22171941;21989491;22242662;22231733;22389383;22482416;22850671;21749879;22203670;22088968;22626766;23204236;22885102;23023221;23128233;22893608;22904195;23470693;22763041;22274915;23403077;23029099;22325052 3579 AAA15417;AAB24742;C9J1J7;C9J2F9;C9JG19;C9JW47;P25025;Q53PC4;Q6LCZ7 AB032733;AB032734;ABBA01023877;AC124768;AJ710879;AK290906;AK312664;AMYH01011494;AY714242;BC037961;CH471063;DA670033;DA674925;HI519532;L19593;M73969;M94582;M99412;NM_001168298;NM_001557;U11866;U11869;U11872;U11873;U11874;U11875;U11876;U11877;U11878 AAA15417;AAA36108;AAA64380;AAA64381;AAA64382;AAA64383;AAA64384;AAA64385;AAA64386;AAA83148;AAB24742;AAB59437;AAB60656;AAC14460;AAH37961;AAT97985;AAY24026;ABM84587;ABM86597;BAA92295;BAA92296;BAF83595;BAG35546;CBX54347;EAW70589;NP_001161770;NP_001548;P25025 Hs.846 1768115;1778518;1790233;1792068;1792634;1792636;1792638;1793968;1796114;2131919;2135246 IL8R-1;IL8RB_163;PMC135988P2;PMC155779P1;PMC155779P2;PMC155779P3;PMC310709P2;RH69171;RH78907;SHGC-35278;STS-L19593 CD182;CDw128b;CMKAR2;IL8R2;IL8RA;IL8RB C-X-C chemokine receptor type 2;CXC-R2;CXCR-2;CXCR2 gene for IL8 receptor type B;GRO/MGSA receptor;IL-8 receptor type 2;IL-8R B;OTTHUMP00000164139;OTTHUMP00000207450;OTTHUMP00000207451;OTTHUMP00000207452;OTTHUMP00000207453;OTTHUMP00000207454;OTTHUMP00000207455;chemokine (CXC) receptor 2;high affinity interleukin-8 receptor B;interleukin 8 receptor B;interleukin 8 receptor type 2;interleukin 8 receptor, beta;interleukin-8 receptor type B APPROVED protein-coding ENSG00000180871 6027 00907 146928 REVIEWED 1350751 CXorf24 chromosome X open reading frame 24 X p11.3 47225194 47228232 + 737633;6480464 12477932 203414 Q8TB33 BC025179;XM_926772;XM_937342;Z84466 AAH25179;CAI42471;Q8TB33;XP_931865;XP_942435 Hs.597617 protein-coding 27333 1345690 CXCR5 chemokine (C-X-C motif) receptor 5 This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 11 11 q23.3 118259777 118272181 + 118754475 118766980 + 1580863;6480464 1425907;19375853;19228923;19074885;18780835;18528326;17786442;17652619;17018614;17015714;16888899;16344560;16318584;16225771;15780119;15713799;14763921;14618028;12620646;12578791;12477932;12447991;12324654;12171958;12070001;11714765;11688722;9486651;9463416;7639692;22607768;19536742;19610059;19955043;20412587;19913121;20628086;18577758;21399635;22840692;21471443;22707196;23739915;21785430;21642390;21750724;23250934;20809769;21833088;22913878;22951725;23128233;23189125 643 A0N0R2;A8K647;P32302;Q2YD84 ABBA01039689;AK291512;AMYH01004077;AP004609;AW575330;BC110352;CH471065;CO958128;DA815880;EF064770;EF444957;NM_001716;NM_032966;X68149;X68829 AAI10353;ABK41953;ACA05956;BAF84201;CAA48252;CAA48723;EAW67415;EAW67416;NP_001707;NP_116743;P32302 Hs.113916 1659827;1792510 D11S4342;PMC152543P3 BLR1;CD185;MDR15;MGC117347 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5);Burkitt lymphoma receptor 1, GTP-binding protein;C-X-C chemokine receptor type 5;CXC-R5;CXCR-5;MDR-15;OTTHUMP00000232687;monocyte-derived receptor 15 APPROVED protein-coding 1060 03367 601613 REVIEWED 5133612 CXorf28 chromosome X open reading frame 28 X X X p22.33 7470034 7482862 + 3134542 3212694 + 3189861 3202694 + 100129464 A6NGU7 AA662138;ABBA01038671;ABBA01038672;ABBA01038673;ABBA01038674;ABBA01038675;AC004616;AC079172;AI417893;AMYH01022017;AW974771;AW974776;BX101503;CH471074;NG_029783;NR_038428 A6NGU7;EAW98723 Hs.187816 1662460;1678353;1732619;1733558;2179461 DXS2497;DXS6773;DXS7099;RH98669;Z94290 miscrna ENSG00000228459 27336 VALIDATED 1602943 CXorf30 chromosome X open reading frame 30 X X X p21.1 40381649 40531032 + 36238869 36313099 + 36246896 36403434 + 6480464 11329013 645090 A6PW81;A6PW82;B1ARL5 ABBA01073548;ABBA01073549;ABBA01073550;ABBA01073551;ABBA01073552;ABBA01073553;ABBA01073554;ABBA01073555;ABBA01073556;ABBA01073557;ABBA01073558;ABBA01073559;ABBA01073560;ABBA01073561;ABBA01073562;ABBA01073563;ABBA01073564;ABBA01073565;ABBA01073566;ABBA01073567;ABBA01073568;AC233304;AI648401;AI822140;AL606467;AL606516;AMYH01022206;AMYH01022207;BG186336;BG197183;BX111076;CD106515;DV080142;DV080305;DV080613;DY655297;NM_001098843 A6PW82;NP_001092313 Hs.632791;Hs.742452 1700554;1748685;1787234 RH103898;SHGC-110344;SHGC-112117 RP11-87M18.1 OTTHUMP00000023137;putative uncharacterized protein CXorf30 protein-coding ENSG00000205081 27298 PREDICTED 1347440 CXorf21 chromosome X open reading frame 21 X X X p21.2 34698462 34717597 - 30486862 30505835 - 30576941 30596033 - 737633;6480464 12477932 18029348;15489334;14702039;17207965;16344560 80231 Q9HAI6 ABBA01072956;ABBA01072957;ABBA01072958;AC005913;AK021639;AMYH01022191;BC020611;BX281759;CH471074;DA921873;NG_016375;NM_025159 AAH20611;ADQ32111;BAB13860;EAW99052;NP_079435;Q9HAI6 Hs.665009 1338423;1714395;2146363;5037552;7186883 D8S2279;DXS985;RH120190;STS-T83845 FLJ11577 5430427O19Rik;OTTHUMP00000023104;hypothetical protein LOC80231;uncharacterized protein CXorf21 protein-coding ENSG00000120280 25667 06518 VALIDATED 1347092 CXorf35 chromosome X open reading frame 35 389878 XM_374333 26030 1352090 CXCR6 chemokine (C-X-C motif) receptor 6 3 3 p21 45959977 45964849 + 45984973 45989845 + 1580863;5135279;6480464 21303517 9166430;9230441;19231068;19074906;18760678;18656707;18452560;18293410;18250446;18194461;17725420;17640964;17615381;16200580;15817921;15736401;15650194;15489334;14634054;12914753;12761559;12477932;12070001;12044980;11290797;11017100;10975845;10933620;9285716;16470129;15992849;15053339;10877489;11711593;10590105;9736741;16870145;20628624;20646641;20704485;18577758;18240029;19690611;20056178;21233446;21203549;21468586;21773780;21527066;22079021;22113484;22678828;23229614;20854195;20921899;22086059;22842622 10663 A0N0N3;O00574 ABBA01024719;AC099782;AF007545;AF029759;AK313754;AMYH01013130;AY322543;BC033584;CH471055;EF064741;EU076974;NG_031955;NM_006564;U73529;U73531;Y13248 AAB61456;AAB61457;AAB64221;AAG21918;AAH33584;AAP84356;ABK41924;ABM83027;ABM86220;ABV02579;BAG36493;CAA73698;EAW64754;NP_006555;O00574 Hs.34526 1792072;1795660;2120818 CXCR6_566;PMC135988P4;RH45259 BONZO;CD186;STRL33;TYMSTR C-X-C chemokine receptor type 6;CDw186;CXC-R6;CXCR-6;G protein-coupled receptor;G-protein coupled receptor STRL33;G-protein coupled receptor bonzo;OTTHUMP00000164651;OTTHUMP00000209998 protein-coding ENSG00000172215 16647 05520 605163 VALIDATED 1352989 CXorf22 chromosome X open reading frame 22 X X X p21.1 40065465 40135882 + 35847779 35918190 + 35937851 36008269 + 737633;6480464 12477932 16344560;15772651;15489334;14702039 170063 Q6ZTR5 ABBA01073519;ABBA01073520;ABBA01073521;ABBA01073522;ABBA01073523;ABBA01073524;ABBA01073525;ABBA01073526;ABBA01073527;AK126295;AL590065;AMYH01022206;BC027936;CD686506;CH471074;DA315191;DV080631;NG_021289;NM_152632 AAH27936;BAC86517;EAW99074;EAW99075;NP_689845;Q6ZTR5 Hs.742234 1749365 SHGC-111119 MGC34831 OTTHUMP00000023133;OTTHUMP00000233739;hypothetical protein LOC170063;uncharacterized protein CXorf22 protein-coding ENSG00000165164 28546 06649 VALIDATED 732176 CXCR4 chemokine (C-X-C motif) receptor 4 This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q21 136588389 136592195 - 136871919 136875725 - 734860;6480654;6480657;6480464;6480655;6484113;6907045;7240710 12692554;21890643;21087446;21382035 20603605;21138752;17947541;17763975;21887463;18949410;18948617;18923649;18834145;18829537;18820725;18812968;18799424;18798091;18781098;18775311;18769446;18765807;18760839;18760838;18707241;18701133;18698020;18696160;18692524;18653785;18636124;18634924;18632580;18624931;18599607;18593989;18570923;18568019;18562079;18556411;18524826;18519809;18511598;18502034;18487224;18461161;18448868;18443596;18431597;18416455;18373506;18365549;18357387;18339870;18339860;18337451;18334485;18292939;18288973;18286257;18281050;18274673;18239145;18235009;18234887;18219852;18210030;18206727;18201276;18200497;18182005;18175225;18155192;18097955;18089812;18087217;18083706;18081034;18040858;18037996;18036244;17991743;17964871;22496601;9468539;8276799;12421915;10754293;10644702;10570282;10942389;10802710;10228019;12091904;15174142;10583963;10415069;10393923;19523923;19521120;19513547;19497995;19496172;19494283;19473177;19472013;19438749;19433312;19373784;19352387;19351212;19340288;19336886;19336475;19327121;19305148;19302975;19297481;19272813;19252530;19240061;19228923;19212630;19200444;19199057;19196101;19178925;19148483;19147814;19139298;19136936;19116316;19115008;19107931;19082444;19074885;19066282;19064997;19053768;19042019;19035451;19025611;19020745;19020538;19017998;19008040;19002187;18957686;18954561;16494043;21178277;21454012;17947233;17925864;17916907;17895991;17894415;17893878;17889832;17888880;17881971;17875700;17846797;17768666;17765649;22644306;21435112;22074556;22359577;22471472;22472349;22496149;22688512;22802411;22023092;22366438;22526457;22532631;22547906;22596258;22333149;22541097;17715399;17715128;17706641;17687643;17676665;17650669;17641542;17634424;17620369;17606439;17596666;17594938;17574038;17562613;17559806;17521613;17510563;17507486;17504381;17488655;17461449;17459055;17435771;17379424;17350297;17346946;17328838;17327270;17262717;17253948;17251291;17202224;17198877;17188679;17176471;17136117;17130833;17119115;17082613;17075975;17070589;17056591;17038674;17032700;17023512;16990599;16987062;16969502;16948905;16948134;16946301;16943240;16929176;16929169;16928758;16919488;16888620;16886061;16877302;16863915;16823836;16802356;16756955;16756721;16740704;16679918;16675573;16638848;16618732;16585856;16528367;16494621;16489019;16467205;16368946;16365278;16327980;16322285;16284526;16230077;16204649;16179731;16172123;16114056;16084492;16047221;16044003;15998835;15995960;15880586;15867478;15844659;15843590;15831676;15819887;15814634;15806155;15805285;15802268;15794931;15787642;15784966;15781337;15753377;15737629;15705741;15701832;15687242;15681827;15670831;15662133;15660419;15650174;15632118;15618472;15615703;15608062;15598422;15588345;15585836;15585097;15549771;15548717;15548713;15542430;15540205;15536192;15492752;15489334;15486895;15467730;15454484;15377464;15363550;15358596;15328206;15328152;15251986;15235108;15225616;15201990;15184910;15180966;15169555;15128813;15123627;15117454;15054042;15048928;15033938;15033669;15026622;15019705;14995074;14990729;14988150;14982745;14973260;14764445;14715575;14688392;14684377;14672331;14630801;14602072;14597738;14595012;14576059;14567988;14555820;13679920;12960231;12927045;12894851;12882661;12882655;12853157;12832058;12791666;12783211;12775414;12766157;12761880;12730102;12726730;12705474;12690099;12651900;12634405;12609846;12605695;12586555;12555204;12555203;12531874;12519884;12519755;12499259;12488503;12485835;12477932;12477874;12433920;12429730;12393663;12393569;12388552;12370187;12368322;12368305;12356205;12355376;12351385;12239174;12239139;12218052;12208881;12193696;12171912;12163560;12093918;12034737;12004084;11994538;11994484;11983855;11953881;11937572;11929756;11920324;11912162;11880384;11878912;11876757;11867624;11693435;11668182;11559423;11278278;11175286;11157475;10756055;10506573;10480633;10452968;10233851;10089882;10074122;9973525;9933168;9879064;9765440;9634238;9634237;9599023;9461627;9379028;8929542;8849450;8752281;8752280;8674119;8629022;8329116;8325644;8234909;7592830;7505609;15183061;15509740;16005638;15258189;15161081;14694113;14640682;14505910;12871111;9710449;8640552;16375941;16631222;16978607;16524887;17010165;17011204;16841089;17121788;16784459;11551942;11414813;11413305;11333905;10651866;10446313;10393974;9658081;9653130;9601645;9696823;9780207;16966601;16702010;11356952;10801487;9721247;9614108;9744279;15479838;15308751;15047829;10864687;10559349;10438870;10339592;10229873;11342415;10438703;10358157;15719026;15327899;11602639;11462036;11141237;10704341;10623764;16188969;15710459;12857973;11698270;10758170;11533159;11162839;11069996;10941932;11711593;11468147;11390582;12873764;11591141;11119612;16227248;11711617;11709091;11689632;11679153;11529558;11390601;11278567;11877445;11799176;11931835;12551992;15972662;12843275;11591370;16697675;11027346;10772939;9362541;16378977;15890935;12490404;11153675;11118068;10544150;10357469;10329539;9653051;9600268;9261451;9184207;12502809;10860877;10825158;9151868;16306611;15992849;15748209;15351504;15279544;15113900;1499070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7852 P61073;Q5MIL4 AB065584;ABBA01028153;AC068492;AF005058;AF025375;AF052572;AF147204;AF348491;AJ224869;AK129916;AK296674;AK312244;AMYH01011124;AY242129;AY728138;AY826773;BC020968;BT006660;CH471058;D10924;HB976927;HC295432;L01639;L06797;M99293;NG_011587;NM_001008540;NM_003467;X71635;Y14739 AAA03209;AAA16594;AAA16617;AAB81970;AAB93982;AAC34581;AAF00130;AAH20968;AAK29630;AAO92296;AAP35306;AAU05775;AAV97584;AAY24044;ACE86647;ACE87329;ADZ15866;BAA01722;BAC05813;BAG35177;BAG59271;CAA12166;CAA50641;CAA75034;CBG22675;CBJ06540;EAX11616;NP_001008540;NP_003458;P61073 Hs.593413 1670541;1770109;1791402;1791412;1791424;1791444;1791510;1792372;1795658;2113896;2132209 CXCR4;CXCR4_564;PMC109434P1;PMC109444P3;PMC109895P1;PMC110622P1;PMC112647P1;PMC149544P1;RH17365;RH78321;SHGC-31461 CD184;D2S201E;FB22;HM89;HSY3RR;LAP3;LCR1;LESTR;NPY3R;NPYR;NPYRL;NPYY3R;WHIM C-X-C chemokine receptor type 4;CD184 antigen;CXC-R4;CXCR-4;OTTHUMP00000204154;OTTHUMP00000204155;SDF-1 receptor;chemokine receptor (lcr1);fusin;leukocyte-derived seven transmembrane domain receptor;leukocyte-derived seven-transmembrane-domain receptor;lipopolysaccharide-associated protein 3;neuropeptide Y receptor Y3;seven transmembrane helix receptor;seven-transmembrane-segment receptor, spleen;stromal cell-derived factor 1 receptor APPROVED protein-coding ENSG00000121966 2561 01217 162643;193670 REVIEWED 1353521 CXorf27 chromosome X open reading frame 27 This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011] X X X p21.1 41987730 41988230 + 37735014 37735514 + 37850070 37850570 + 18029348;12477932;9700202 25763 O75409 ABBA01047070;AF049615;AL121578;AMYH01022211;AW291697;BC104428;BC104429;BC113024;BC113025;CH471141;NG_021354;NM_012274 AAC26851;AAI04429;AAI04430;AAI13025;AAI13026;EAW59451;NP_036406;O75409 Hs.122959 2107221;2220652 HYPM__6433;UniSTS:487058 1700054O13Rik;HIP17;HYPM OTTHUMP00000031919;huntingtin yeast partner M;huntingtin-interacting protein M APPROVED protein-coding ENSG00000187516 18417 VALIDATED 5686938 CXorf31 chromosome X open reading frame 31 X p11.3 46746852 46759139 - 12477932;15772651 724087 Q5VT33 ABBA01052273;ABBA01052274;ABBA01052275;AL627143;AMYH01022253;BC038573;NR_046101 Q5VT33 Hs.679235 1702628 DXS1146 miscrna ENSG00000204904 17986 VALIDATED 1602011 CXorf46 chromosome X open reading frame 46 q21.31 727694 AW161363 Hs.571694 protein-coding 31845 1348660 CXorf23 chromosome X open reading frame 23 X X X p22.12 24055008 24111271 - 19844039 19898303 - 19930978 19988382 - 6480464 14702039;12477932;20360068 256643 A2AJT9;F2Z385;H7BXX2 ABBA01071819;ABBA01071820;ABBA01071821;ABBA01071822;AK094661;AK127709;AL772197;AL833278;AMYH01022131;AMYH01022132;BC093092;BC126172;BC143906;CH471074;NG_021326;NM_198279 A2AJT9;AAI26173;AAI43907;BAC04399;BAC87094;EAW98968;EAW98969;EAW98970;NP_938020 Hs.28896 1701956;1733428;2114791;5020740;5022641;5024413;5037552 D11S2843;D8S2279;DXS1459;DXS6761;L17809;L17877;STS-R68627 OTTHUMP00000023019;OTTHUMP00000195117;hypothetical protein LOC256643;uncharacterized protein CXorf23 protein-coding ENSG00000173681 27413 06620 VALIDATED 1603232 CXorf47 chromosome X open reading frame 47 q21.31 751581 BE732529;BE901994 protein-coding 31846 2303429 CXorf49 chromosome X open reading frame 49 X X X q13.1 71286613 71290524 - 70851080 70855033 - 70934224 70938135 - 100130361 A8MYA2 ABBA01046155;BX276092;NM_001145140 A8MYA2;NP_001138612 Hs.632817 2134811 DXS7122 CXorf49B hypothetical protein LOC100130361;putative uncharacterized protein CXorf49;uncharacterized protein CXorf49 protein-coding 30891 VALIDATED 2303482 CXorf49B chromosome X open reading frame 49B X X q13.1 70899692 70903645 + 70983140 70987051 + 100132994 A8MYA2 BX276092;NM_001145139 NP_001138611 Hs.719592 2134811 DXS7122 hypothetical protein LOC100132994;uncharacterized protein LOC100132994 protein-coding 34229 VALIDATED 2293161 CXorf51A chromosome X open reading frame 51A X X q27.3 145703314 145703940 - 145895622 145896249 - 100129239 AA417208;ABBA01054262;AI954759;AL109836;NM_001144064 NP_001137536 Hs.592233 1702992;1787198 DXS8306;SHGC-100327 CXorf51 hypothetical protein LOC100129239;uncharacterized protein LOC100129239 APPROVED protein-coding 30533 VALIDATED 5508282 CXorf51B chromosome X open reading frame 51B X X q27.3 145698995 145699621 + 145891302 145891929 + 100133053 AL109836;AMYH01023166;AMYH01023167;NM_001244892 NP_001231821 Hs.98197 1702992;1787198 DXS8306;SHGC-100327 hypothetical protein LOC100133053;uncharacterized protein LOC100133053 protein-coding 42787 VALIDATED 1343794 CXorf36 chromosome X open reading frame 36 X X X p11.3 49199429 49252310 - 44906511 44945090 - 45007618 45060146 - 1304513 11944989 11181995;18029348;16344560;15342556;14702039;12975309;12477932;19377476;21283809;21264219 79742 Q8WZ11;Q9H7Y0 ABBA01052067;ABBA01052068;ABBA01052069;ABBA01052070;ABBA01052071;ABBA01052072;ABBA01052073;AC136488;AC136489;AF289581;AK024165;AK055190;AK056730;AK094014;AK094877;AK294472;AMYH01022244;AY358764;BC035375;BC137528;BC137529;BP231945;CH471164;CR627166;DA378381;DC332862;NG_027895;NM_024689;NM_176819 AAI37529;AAI37530;AAL55765;AAQ89124;BAB14843;BAC04447;BAH11781;EAW59250;EAW59251;EAW59252;EAW59253;NP_078965;NP_789789;Q9H7Y0 Hs.98321 1337797;1849626;1849628;2114236;2114238;2146293 A005L13;A005O03;G10578;G20306;G20368;HSCZQH052 4930578C19Rik;DIA1R;DKFZp313K0825;EPQL1862;FLJ14103;FLJ55198;FLJ55198,;PRO3743;bA435K1.1 OTTHUMP00000023180;OTTHUMP00000023182;UPF0672 protein CXorf36;deleted in autism-1 related protein;deleted in autism-related protein 1;hCG1981635;hypothetical protein LOC79742 protein-coding ENSG00000147113 25866 06524 VALIDATED 1353544 CXorf48 chromosome X open reading frame 48 X X X q26.3 134675809 134689429 - 134118127 134133417 - 134290461 134305751 - 737633 12477932 15772651;15489334;14702039;18307534;17207965 54967 Q8WUE5 ABBA01050050;ABBA01050051;ABBA01050052;ABBA01050053;AC234771;AF520814;AK000534;AL670455;AMYH01023003;AMYH01023004;AMYH01023005;AY352211;BC020662;CH471107;NM_001031705;NM_017863 AAH20662;AAP47205;AAQ90022;ADQ32264;BAA91237;CAI41607;CAI41608;EAX11734;NP_001026875;NP_060333;Q8WUE5 Hs.272804 1702222;2133997 DXS1355;WI-11212 BJHCC20A;CT55;FLJ20527;RP13-565O16.1 BRCA2-interacting protein;OTTHUMP00000024069;OTTHUMP00000024070;cancer/testis antigen 55;tumor antigen BJ-HCC-20;uncharacterized protein CXorf48 protein-coding ENSG00000169551 26047 06534 VALIDATED 1604879 CXorf40B chromosome X open reading frame 40B X X X q28 149351614 149351919 - 148851073 148857374 - 149100415 149106716 - 16341674;15772651;15489334;12477932;9147653;8717057 541578 Q5HY62;Q96DE9 ABBA01037068;ABBA01049646;ABBA01049647;ABBA01049648;AC244099;AMYH01023210;BC009523;BM847839;BX927209;L43575;L43578;NM_001013845;U66042;XM_003960968;XM_003960969;XM_003960970;XM_003960971;XM_003960972;XM_003960973;XM_003960974;XM_003960975;XM_003960976;XM_003960977;XM_003960978 AAH09523;NP_001013867;Q96DE9;XP_003961017;XP_003961018;XP_003961019;XP_003961020;XP_003961021;XP_003961022;XP_003961023;XP_003961024;XP_003961025;XP_003961026;XP_003961027 Hs.545950 1657386;1670533;1699896;2114359;2132703;2132705;2144732 A006J30;G20875;NIB220;RH103556;RH16561;WI-11260;WI-15826 OTTHUMP00000032255;OTTHUMP00000032257;OTTHUMP00000032258;protein CXorf40B protein-coding ENSG00000197021 17402 18676 VALIDATED 1344025 CXorf40A chromosome X open reading frame 40A X X X q28 148971238 148980804 + 148430463 148436760 + 148622519 148632086 + 6480464 15541360;16383041;16215939;15772651;15489334;14702039;12477932;10848801;9147653;8717057;17557240;16712791;21223654 91966 D6RA30;D6RH26;Q8TE69 AC233288;AC244197;AF011889;AJ712320;AK055235;AK291899;AK294153;AK300334;AMYH01023193;AW517432;AY074889;BC065539;BC104930;BC104932;BC143660;BC143661;BC143662;BE265359;BG831626;CB156531;CH471171;L43576;NM_001171907;NM_001171908;NM_001171909;NM_178124;U66049;U66050 AAH65539;AAI04931;AAI04933;AAI43661;AAI43662;AAI43663;AAL71889;BAF84588;BAH11684;BAH13262;EAW61276;EAW61277;EAW61279;NP_001165378;NP_001165379;NP_001165380;NP_835225;Q8TE69 Hs.534641 1657386;1670533;1697642;1699896;2114359;2132703;2132705;2144732 A006J30;G20875;NIB220;RH102336;RH103556;RH16561;WI-11260;WI-15826 CXorf40;EOLA1;FLJ52212 OTTHUMP00000217641;OTTHUMP00000217644;OTTHUMP00000217645;OTTHUMP00000217646;OTTHUMP00000217647;OTTHUMP00000217648;OTTHUMP00000217649;OTTHUMP00000217650;endothelial-overexpressed lipopolysaccharide-associated factor 1;protein CXorf40A protein-coding 28089 06625 VALIDATED 2299192 CXorf64 chromosome X open reading frame 64 X X X q25 126335893 126337916 + 125781432 125783450 + 125953747 125955769 + 15772651;11329013 100130613 B1ATL7 ABBA01047506;AL662896;AMYH01022956;BG200532;CA433109;NG_021226;NM_001122716;R10182 B1ATL7;NP_001116188 Hs.130370 OTTHUMP00000023980;hypothetical protein LOC100130613;uncharacterized protein CXorf64 protein-coding ENSG00000183631 34498 VALIDATED 1351399 CXorf45 chromosome X open reading frame 45 X q23 110811091 110890528 + 6480464 9373149;15772651;15489334;14702039;12477932;8125298;7505766 79868 B7ZAJ1 AK026671;AK223154;AL049563;AL096764;BC117377;BC117379;XM_001713667;XM_001713668 AAI17378;AAI17380;BAB15521;BAD96874;Q9H5U8;XP_001713719;XP_001713720 Hs.443061 FLJ23018 protein-coding 26240 06542 300776 1352581 CXorf38 chromosome X open reading frame 38 X X X p11.4 44626483 44646806 - 40373984 40391721 - 40486173 40506819 - 6480464 15489334;14702039;12477932;16344560;8889548;21890473 159013 E7EN46;Q8TB03 ABBA01046794;ABBA01046795;ABBA01046796;AC092473;AC093029;AK021629;AK095710;AK123989;AK304539;AK315384;AL832829;AMYH01022224;BC025334;BM969708;CH471141;CV572553;DB207233;NG_016376;NM_144970 AAH25334;ABM83078;ABM86274;BAC04615;BAG37777;BAG53990;BAG65338;CAI46149;EAW59421;EAW59422;EAW59423;NP_659407;Q8TB03 Hs.495961 1658963;1697782;1718635;1787336;2140079;2178297;2217196;5015961;5020881;5022450;5022578 AF020138;CRSP2_3501;D10S275;D15S1477;D1S1423;L17709;RH102415;RH123003;RH169;SHGC-154528;SHGC-31934 MGC39350 OTTHUMP00000025775;OTTHUMP00000025776;OTTHUMP00000025777;hypothetical protein LOC159013;uncharacterized protein CXorf38 protein-coding 28589 06651 VALIDATED 1603201 CXorf56 chromosome X open reading frame 56 While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q23 119126840 119154108 - 118557529 118583392 - 118672112 118699397 - 6480464 17353931;14702039;12477932;16344560;19377476;17207965;21832049;22939629;21139048;21890473 63932 Q9H5V9 ABBA01036659;ABBA01036660;ABBA01036661;ABBA01036662;ABBA01036663;AC004000;AC004913;AC005190;AK096297;AK298877;AMYH01022884;BC023506;BQ223940;CH471161;DA590933;DA921725;DB033119;NG_016378;NM_001170569;NM_001170570;NM_022101 AAB96348;ADQ32208;BAG53251;BAG60994;EAW89864;EAW89865;EAW89866;EAW89867;NP_001164040;NP_001164041;NP_071384;Q9H5V9 Hs.248572 2168458;2191423;5015861;5037552;7185938 D10S16;D8S2279;MARC_21759-21760:1023907404:5;RH65346 FLJ22965 OTTHUMP00000023905;OTTHUMP00000215632;OTTHUMP00000215639;UPF0428 protein CXorf56;hypothetical protein LOC63932 APPROVED protein-coding ENSG00000018610 26239 06541 VALIDATED 1606098 CXorf66 chromosome X open reading frame 66 The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 2009] X X X q27.1 139405526 139415319 - 138865550 138875345 - 139037884 139047677 - 12477932 347487 Q5JRM2 AA758774;ABBA01066093;AL590077;AMYH01023060;BC137148;BC137149;NG_021221;NM_001013403 AAI37149;AAI37150;NP_001013421;Q5JRM2 Hs.121384 1680381 RH93692 OTTHUMP00000024165;RP11-35F15.2;hypothetical protein LOC347487;uncharacterized protein CXorf66 APPROVED protein-coding ENSG00000203933 33743 18139 VALIDATED 1606442 CXorf65 chromosome X open reading frame 65 X X X q13.1 70677642 70680541 - 70240562 70243145 - 70323739 70326638 - 15772651;8889549;12477932 158830 A6NEN9;C9J8K0 AA889552;ABBA01067665;ABBA01067666;AL590764;AMYH01022534;BC144434;CH471132;DB457782;DB523273;NG_021141;NM_001025265;NR_033212;W95038 A6NEN9;EAX05320;NP_001020436 Hs.443936 1648433;1701852;2162605 IL2RG;RH17366;SGC35235 OTTHUMP00000023484;OTTHUMP00000023485;hypothetical protein LOC158830;uncharacterized protein CXorf65;uncharacterized protein LOC158830 protein-coding 33713 18741 VALIDATED 1603340 CXorf67 chromosome X open reading frame 67 X p11.22 51166507 51168430 + 18264098;12477932 340602 Q86X51 AL158055;BC046248;CH471180;NM_203407 AAH46248;EAW89908;NP_981952;Q86X51 Hs.97053 1685223 RH98673 MGC47837 protein-coding 33738 14176 1605263 CXorf61 chromosome X open reading frame 61 X X X q23 115544636 115545921 + 115506877 115508163 - 115592852 115594137 - 16651449;12477932;21139048;23000965 203413 Q5H943 ABBA01049248;AC241580;AK000618;AK026566;AMYH01022870;AX061661;BC062223;CH471234;HC044605;HY170569;NG_021305;NM_001017978;Z96810 AAH62223;CAC25021;CAI42798;CBH30632;EAW51499;NP_001017978;Q5H943 Hs.97892 1689865 RH93168 CT83;FLJ20611;FLJ22913;KK-LC-1;KKLC1;RP3-452H17.2 OTTHUMP00000023879;cancer/testis antigen 83;kita-kyushu lung cancer antigen 1 protein-coding ENSG00000204019 33494 18577 300625 VALIDATED 1605257 CXorf58 chromosome X open reading frame 58 X X X p22.11 28043612 28078231 + 23836044 23867545 + 23926123 23957624 + 15772651;15489334;14702039;12477932 254158 B7ZLS7;H7C2Q7;Q96LI9 ABBA01072258;ABBA01072259;ABBA01072260;ABBA01072261;ABBA01072262;ABBA01072263;ABBA01072264;ABBA01072265;AC079376;AK058173;AMYH01022156;BC117344;BC117346;BC144007;CH471074;NG_016380;NM_001169574;NM_152761 AAI17345;AAI17347;AAI44008;ADR83134;BAB71702;EAW99005;EAW99006;NP_001163045;NP_689974;Q96LI9 Hs.351265 FLJ25444 OTTHUMP00000023070;putative uncharacterized protein CXorf58 protein-coding ENSG00000165182 26356 06544 VALIDATED 1605981 CXorf57 chromosome X open reading frame 57 X X X q22.3 106326505 106394019 + 105741909 105809328 + 105855160 105922673 + 6480464 15772651;16344560;15489334;14702039;12477932;22990118;22118674;21139048;21890473;21906983;22797925 55086 B1AQ74;Q9H7W5 ABBA01035799;ABBA01035800;ABBA01035801;ABBA01035802;ABBA01035803;ABBA01035804;ABBA01035805;AK001040;AK024253;AK291730;AL590808;AL606833;AMYH01022826;BC011483;BC033709;BC047503;BC054032;BC070110;CH471120;DB065928;NG_021317;NM_001184782;NM_018015 AAH11483;AAH33709;AAH54032;AAH70110;BAB14859;BAF84419;EAX02738;EAX02739;EAX02740;EAX02741;NP_001171711;NP_060485;Q6NSI4 Hs.274267 2185239;5022200 L18426;SHGC-53457 FLJ10178;FLJ14191;RP11-647M7.1 OTTHUMP00000023784;OTTHUMP00000023785;hypothetical protein LOC55086;uncharacterized protein CXorf57 protein-coding ENSG00000147231 25486 06513 VALIDATED 1348142 CXXC1P1 CXXC finger protein 1 pseudogene 1 X X X p11.23 51761853 51791293 + 47445733 47488228 + 47566590 47596027 + 14702039 392459 ABBA01052399;ABBA01052400;ABBA01052401;ABBA01052402;ABBA01052403;AK094108;AL009172;AMYH01022264;NG_028296;NR_033924 Hs.562045 1702648;2121754 AL022451;DXS1333 CXorf25;FLJ36789;NCRNA00236 APPROVED pseudo ENSG00000187893 27864 VALIDATED 1345048 CXXC5 CXXC finger protein 5 5 5 5 q31.2 135103300 135138126 + 139008485 139042864 + 139028301 139062680 + 737633;1580863;6480464 12477932 19557330;19182210;19001364;15231748;14702039;12761501;11042152;9110174;8619474;19865112;20220130;21325450;21988832;23190153 51523 D6R966;D6R9V1;D6RBE0;D6RCN9;D6RDY2;D6RHC6;D6RHG9;D6RIR8;D6RJC1;E7EV55;E7EVI8;Q7LFL8 AB097005;AB097032;ABBA01026447;AC113361;AF151029;AK001782;AK024338;AK314420;AMYH01015653;AY007103;BC002490;BC006428;BC017439;BC024040;BC041013;BC050046;CH471062;GQ379202;NM_016463 AAF36115;AAG01986;AAH02490;AAH06428;AAH17439;AAH24040;AAH41013;ABM83515;ABM86733;ACU80469;BAA91907;BAC77358;BAC77385;BAG51292;EAW62090;EAW62091;EAW62092;EAW62093;NP_057547;Q7LFL8 Hs.189119 1772655;1850171 RH12598;RH68028 CF5;HSPC195;RINF;WID CXXC finger 5 protein;CXXC-type zinc finger protein 5;OTTHUMP00000223618;OTTHUMP00000223619;WT1-induced Inhibitor of Dishevelled;putative MAPK-activating protein PM08;putative NF-kappa-B-activating protein 102;retinoid-inducible nuclear factor APPROVED protein-coding 26943 13105 612752 PROVISIONAL 1606110 CXXC11 CXXC finger protein 11 2 2 2 q37.3 236471678 236475274 + 242460559 242464155 + 242811886 242815482 + 14702039;12477932 285093 F8WB75;Q14D33 ABBA01018784;AC131097;AK090909;AMYH01011636;BC113517;BC113519;CH471063;NM_173821 AAI13518;AAI13520;BAC03544;EAW71299;EAW71300;EAW71301;EAW71302;NP_776182;Q14D33 Hs.376307 C2orf85;FLJ33590;MGC142077;MGC142079 CXXC-type zinc finger protein 11;OTTHUMP00000199881;hypothetical protein LOC285093;uncharacterized protein C2orf85 APPROVED protein-coding 26585 08159 VALIDATED 1354389 CXXC4 CXXC finger protein 4 4 4 4 q22-q24 102691446 102710586 - 105612779 105631916 - 105389463 105416058 - 68802;1580863;6480464;6907045 11113207 18931698;12477932;20332099;23563267;21832049;20473970;21890473;14702039 80319 J9JIF5;Q9H2H0 ABBA01063724;ABBA01063725;ABBA01063726;AC093628;AF272159;AK093871;AK125395;AK127778;AMYH01014436;BC119751;BC119752;CH471057;NM_025212 AAG42072;AAI19752;AAI19753;AAY40933;EAX06175;NP_079488;Q9H2H0 Hs.12248 1698324;2118006;2171852 D4S2678;RH102703;RH35803 IDAX;MGC149872 CXXC finger 4;CXXC-type zinc finger protein 4;Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex);OTTHUMP00000161763;inhibition of the Dvl and axin complex protein APPROVED protein-coding ENSG00000168772 24593 16773 611645 VALIDATED 1321844 CXXC1 CXXC finger protein 1 Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate gene expression (Carlone and Skalnik, 2001 [PubMed 11604496]).[supplied by OMIM, Mar 2008] 18 18 q12 46062711 46068690 - 47808713 47814692 - 1580863;6480464 10688657;19433449;18680430;18082152;17328666;16713569;16253997;15761153;15489334;12477932;12200428;11604496;11572867;11256614;11230166;10799292;17998332;17355966;20062064;19951360;19454010;20211142;21407193;20516061;21252943;22939629;20305087;22321011;22318606;22623531;18838538 30827 K7EJR0;K7EKZ6;K7EQ21;K7EQZ1;Q9P0U4 AA236925;AB031069;AB209883;ABBA01018670;AC090246;AF149758;AK294645;AK314886;AL136862;AMYH01008995;BC002504;BC009188;BC014940;BC015733;BC029922;BX647189;CH471096;NM_001101654;NM_014593 AAF37799;AAH14940;AAH15733;AAH29922;ABM84724;ABM92247;BAA96307;BAD93120;BAG37400;BAG57822;CAB66796;EAW62968;EAW62969;EAW62970;NP_001095124;NP_055408;Q9P0U4 Hs.180933 1644849;1676302;1797220;2107981;5491687 CGBP;CXXC1_8030;D18S1024;MARC_7961-7962:996688184:1;RH91758 2410002I16Rik;5830420C16Rik;CFP1;CGBP;HsT2645;PCCX1;PHF18;SPP1;ZCGPC1;hCGBP CXXC finger 1 (PHD domain);CXXC-type zinc finger protein 1;CpG binding protein;DNA-binding protein with PHD finger and CXXC domain;OTTHUMP00000163508;PHD finger and CXXC domain-containing protein 1;cpG-binding protein;zinc finger, CpG binding-type containing 1 APPROVED protein-coding ENSG00000154832 24343 10852 609150 VALIDATED 1349765 CYB5AP2 cytochrome b5 type A (microsomal) pseudogene 2 2 2 2 q31.1 164262935 164263253 + 170354849 170355641 + 170646567 170646885 + 1712589;1712589 100128621 ABBA01014899;AC009967;AMYH01011252;NG_016583 CYB5P2 APPROVED pseudo 2573 INFERRED 1352843 CYB5AP3 cytochrome b5 type A (microsomal) pseudogene 3 14 14 14 q32.12 73658475 73659264 + 92674102 92674690 + 93604300 93605122 + 8262522;2775258 1531 ABBA01030438;AL110118;AMYH01005964;M25765;NG_002437 CYB5P3;Psgb-5-1 APPROVED pseudo 2574 INFERRED 1347150 CYB5AP5 cytochrome b5 type A (microsomal) pseudogene 5 14 q12 26677168 26677934 + 100289051;1533 ABBA01061360;AL049831;AMYH01005618;NG_029049 CYB5P5 APPROVED pseudo 2576 INFERRED 1344592 CYB5AP4 cytochrome b5 type A (microsomal) pseudogene 4 20 20 20 p11.2 22939489 22940037 - 22814208 22814806 - 22866128 22866676 - 8262522;2775258 1532 ABBA01016172;AL353132;AMYH01011774;M24781;NG_001021 1681022 RH69101 CYB5P4;Psgb-5-2;bA189G24.1 APPROVED pseudo 2575 INFERRED 1322199 CYB561 cytochrome b561 17 17 q23.3 58863397 58877454 - 61509665 61523722 - 1580863;6480464 7980462;14499595;18180394;15489334;14702039;12837283;12768339;12477932;7959749;7559396;7096323;20680310;18029348;21906983;21987572;23249217 1534 B3KTA1;B7Z775;F5H757;J3KSL5;J3QKN3;J3QLS0;J3QR25;J3QRF9;J3QRH5;J3QS09;J3QS47;P49447 ABBA01035332;AC005828;AK095244;AK294403;AK294630;AK301541;AK303177;AK316606;AMYH01008548;BC000021;BC002976;BC091485;BF206825;BM552101;BT007096;CH471109;NM_001017916;NM_001017917;NM_001915 AAH00021;AAH02976;AAH91485;AAP35760;BAG38193;BAG53013;BAH11756;BAH11829;BAH13511;BAH13913;EAW94322;EAW94323;EAW94324;EAW94325;EAW94326;NP_001017916;NP_001017917;NP_001906;P49447 Hs.355264 1672571;1687353;2117150;2120160;2184507;5014051;5037552;5123190 D8S2278;D8S2279;G30452;RH70593;RH79080;RH79732;STS-W04622;WI-18928 CYB561A1;FRRS2 cytochrome b-561;cytochrome b561;cytochrome b561 family, member A1;ferric-chelate reductase 2 APPROVED protein-coding ENSG00000008283 2571 02485 600019 VALIDATED 1350964 CYB561A3 cytochrome b561 family, member A3 11 11 11 q12.2 58451601 58465136 - 60872853 60886305 - 61116220 61129755 - 6480464 16344560;16303743;15342556;14702039;12477932;8889549;8889548;23249217;8125298 220002 F5GWH8;F5GX87;F5H0P5;F5H121;F5H1Q2;F5H240;F5H466;F5H5L0;F5H5Y9;F5H684;F5H832;Q8NBI2 AA085565;ABBA01003198;ABBA01003199;AK024953;AK025870;AK056751;AK075559;AK097043;AK225754;AK297063;AK297084;AK310167;AK310976;AL833374;AMYH01003677;AP003108;BC004391;BC014045;BC047710;BM692535;BP296553;BP366144;BP396674;CF125719;CF541093;CH471076;DA948287;DC378209;DC389589;NM_001161452;NM_001161454;NM_153611 AAH04391;AAH14045;AAH47710;BAC11698;BAG51804;BAG59584;BAG59601;EAW73941;EAW73942;NP_001154924;NP_001154926;NP_705839;Q8NBI2 Hs.22546 2115758;2144434;2173721;2175966;5020740 A005B24;D11S1188;L17809;RH12319;WI-21475 CYBASC3;FLJ39724;LCYTB;MGC20446 OTTHUMP00000238255;OTTHUMP00000238256;OTTHUMP00000238259;OTTHUMP00000238261;cytochrome b ascorbate-dependent protein 3;cytochrome b, ascorbate dependent 3;cytochrome b561 family member A3;lysosomal cytochrome b APPROVED protein-coding ENSG00000162144 23014 11316 VALIDATED 1345596 CYB5P1 cytochrome b-5 pseudogene 1 1840560 1529 2572 1353992 CYB561D2 cytochrome b561 family, member D2 3 3 3 p21.3 50361128 50364331 + 50363301 50366504 + 50388297 50391500 + 1580863;6480464 16641997;15489334;12477932;11085536;9122200;16169070;19734123;17207965;21832049;23249217 11068 O14569 ABBA01024549;AC002481;AF040704;AK291167;AMYH01013171;BC047691;BX641103;CH471055;NM_007022 AAB67309;AAC70911;AAH47691;ADQ33030;BAF83856;EAW65113;EAW65114;NP_008953;O14569 Hs.149443 1772352;1780408;2108743;2145572;5022588;5022651;5037552 AW049681;CYB561D2_7989;D11S2921;D5S1597E;D8S2279;RH66312;WI-19554 101F6;TSP10 OTTHUMP00000210674;OTTHUMP00000210675;OTTHUMP00000210676;OTTHUMP00000210677;cytochrome b-561 domain containing 2;cytochrome b561 domain-containing protein 2;putative tumor suppressor 101F6;putative tumor suppressor protein 101F6 APPROVED protein-coding ENSG00000114395 30253 06143 607068 PROVISIONAL 1321956 CYB561D1 cytochrome b561 family, member D1 1 1 1 p13.3 108306008 108312412 + 109838245 109843000 + 110036658 110043063 + 1580863;6480464 16710414;16344560;15489334;14702039;12477932;20125088;20383146;23251661;23249217 284613 E9PIJ2;E9PIK3;E9PM70;E9PQU0;Q6ZQS1;Q8N8Q1 ABBA01068378;AI375149;AK092717;AK096354;AK126707;AK128798;AK294992;AK299086;AK303546;AL355145;AMYH01000933;BC093683;BC111999;BC143308;BX647509;CH471122;DA054191;DC376706;NM_001134400;NM_001134402;NM_001134403;NM_001134404;NM_182580 AAH93683;AAI12000;BAC04767;BAC86652;BAC87612;BAG58058;BAG61150;BAG64572;EAW56388;NP_001127872;NP_001127874;NP_001127875;NP_001127876;NP_872386;Q8N8Q1 Hs.514682 1852814;2217228;5022200;5022578;5022649;5022651;5037552 CYB561D1_3735;D11S2875;D11S2921;D1S1423;D8S2279;L18426;SHGC-75197 FLJ39035;FLJ44753;MGC138204;RP5-831G13.3 OTTHUMP00000012726;OTTHUMP00000012727;OTTHUMP00000012728;OTTHUMP00000233120;OTTHUMP00000233121;OTTHUMP00000233122;OTTHUMP00000233123;OTTHUMP00000233124;OTTHUMP00000233125;cytochrome b-561 domain containing 1;cytochrome b561 domain-containing protein 1 APPROVED protein-coding ENSG00000174151 26804 09902 VALIDATED 1603917 CYB5D1 cytochrome b5 domain containing 1 17 17 17 p13.1 7788885 7793421 + 7702038 7706325 + 7761064 7765600 + 6480464 14702039;12477932;21145461 124637 I3L321;I3NI34;Q6P9G0 ABBA01054889;AC104581;AK022811;AK057061;AK125598;AK289520;AMYH01008086;BC060779;CH471108;NM_144607 AAH60779;BAB71357;BAF82209;EAW90119;EAW90120;EAW90121;EAW90122;NP_653208;Q6P9G0 Hs.27475 1854944;2126984;2132294;2146160;2162947;2191317 A008B35;HSC1HE012;MARC_17348-17349:1021492261:7;RH18472;RH36044;WI-11540 FLJ32499 cytochrome b5 domain-containing protein 1 protein-coding ENSG00000182224 26516 13408 VALIDATED 736806 CYB5A cytochrome b5 type A (microsomal) The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 18 18 q23 70071507 70110201 - 71920527 71959251 - 1599659;1599663;1580863;6480464;7240710 2107882;9848217 22170710;7668255;1712589;18299324;17691855;17622936;17446262;17320757;16679316;15831526;15687493;15489334;14985252;14739275;14733950;12477932;11867265;11329013;9813010;9760250;9601054;9398194;8262522;7733981;7649306;6102994;5062820;4993957;4770377;4373719;4030743;3951505;3178851;2752049;2123873;1840560;1396600;221468;199233;20511233;15680923;19997042;20080843;16712791;21185375;21800051;21139048;21890473 1528 J3KNC7;P00167 AB209617;ABBA01056324;AC090398;AK026310;AMYH01009096;BC015182;BG196223;CA771478;CB112646;CH471117;CR456990;L39945;M22865;M22976;M60174;NG_023211;NM_001190807;NM_001914;NM_148923;S76422 AAA35729;AAA52133;AAA52165;AAA63169;AAH15182;ABM82209;ABM85269;BAD92854;CAG33271;EAW66544;EAW66545;NP_001177736;NP_001905;NP_683725;P00167 Hs.465413 1340555;1675776;1681022;1687017;1700214;1731755;2107985;2153333;2180430;5022450;5024035;5024761;5037552 CYB5_7777;D10S275;D13S116;D18S486;D18S527;D8S2279;RH103723;RH36905;RH69101;RH69305;RH80972;SHGC-2297;SHGC-58056 CYB5;MCB5 OTTHUMP00000163744;OTTHUMP00000163745;cytochrome b5;type 1 cyt-b5 APPROVED protein-coding ENSG00000166347 2570 08941 250790;613218 REVIEWED 1606739 CYB5D2 cytochrome b5 domain containing 2 17 17 17 p13.2 4058042 4072567 + 3993299 4007740 + 4046462 4060995 + 6480464 16344560;12477932;16712791;8889548 124936 I3L497;Q8WUJ1 AA479992;ABBA01054755;AC087292;AK172844;AK313088;AMYH01008035;BC020263;BC051697;BM681125;BX327481;CB112805;CB129650;CH471108;CK821986;DA346215;EB386356;H57026;NM_001254755;NM_001254756;NM_144611 AAH20263;AAH51697;ABM82622;ABM85803;BAD18808;BAG35913;EAW90452;EAW90453;EAW90454;NP_001241684;NP_001241685;NP_653212;Q8WUJ1 Hs.513871 1698896;2133981;5015961;5092446;5092450;5109281 D15S1477;D17S2158;D1S1425;G54288;G54290;RH103016 MGC32124 cytochrome b5 domain-containing protein 2;neuferricin protein-coding ENSG00000167740 28471 14549 VALIDATED 1602002 CYB5R2 cytochrome b5 reductase 2 11 11 11 p15.4 7802280 7810775 - 7642902 7651397 - 7686326 7694821 - 6480464;6907045 10611283;15858218;12477932;8889548;16189514;16712791;16713569;20877624 51700 E9PIV9;E9PMI2;E9PQW2;E9PRM4;Q6BCY4 AA814725;AB209000;ABBA01028681;AC104237;AF169802;AI342011;AK290102;AK308543;AL133582;AMYH01003370;AY665398;BC001346;BG723242;BG772396;BM968347;CB149369;CH471064;NM_016229 AAF04811;AAT75296;BAD92237;BAF82791;CAB63726;EAW68648;EAW68649;EAW68650;EAW68651;NP_057313;Q6BCY4 Hs.414362 1669224;1740039;2107983;2186925;5093204;5123727 A009J20;CYB5R2_8048;D11S4068;G32581;RH15972;STS-N90805 B5R.2 NADH-cytochrome b5 reductase 2;OTTHUMP00000230670;OTTHUMP00000230671;OTTHUMP00000230672;OTTHUMP00000230673;cytochrome b5 reductase b5R.2 protein-coding ENSG00000166394 24376 06435 608342 VALIDATED 1314495 CYB5R1 cytochrome b5 reductase 1 1 1 1 q32.1 176060247 176065650 - 201197624 201203027 - 202931001 202936404 - 6480464;6907045 18029348;16303743;12477932;10611283;9760250;8125298;19913121;20628086;17207965;16713569;20379614;20877624;22939629;16196087;21139048;21890473;21906983 51706 H7C0R7;Q9UHQ9 ABBA01027488;ABBA01027489;AC096632;AF087912;AF091084;AF093822;AF125533;AF169481;AK074654;AK075304;AK123705;AK223416;AK295902;AK313333;AMYH01001652;AY359026;BC000034;BC018732;BC127945;CH471067;CQ783902;CS072296;NM_016243 AAC72953;AAF06147;AAF17227;AAH18732;AAI27946;AAP97209;AAP97218;AAQ89385;ADQ31663;BAC11115;BAD97136;BAG36137;BAG58694;CAF86916;CAI93434;EAW91451;EAW91452;EAW91453;EAW91454;NP_057327;Q9UHQ9 Hs.334832 1734390;2151917;2217230;5109647 CYB5R1_3828;D1S1755E;D1S1820E;D1S1872E B5R.1;B5R1;B5R2;NQO3A2;humb5R2 NAD(P)H:quinone oxidoreductase type 3 polypeptide A2;NAD(P)H:quinone oxidoreductase type 3, polypeptide A2;NADH-cytochrome b5 reductase 1;OTTHUMP00000038802;OTTHUMP00000038998 protein-coding ENSG00000159348 13397 06434 608341 VALIDATED 735287 CYB5B cytochrome b5 type B (outer mitochondrial membrane) 16 16 16 q22.1 53973073 54014760 + 68015999 68057668 + 69458498 69500167 + 6480464 15489334;14733950;14702039;12477932;12417987;11867265;14739275;20100355;20877624;21574570;21832049;22939629;21800051;19322201;21139048;21890473;21906983;22505724 80777 D6RFH4;H3BUX2;J3KNF8;J3QR91;O43169 AB009282;ABBA01025528;AC009032;AC026464;AK098148;AK125218;AK291576;AMYH01007767;BC004373;BC014431;BX647922;CH471092;NM_030579 AAH04373;AAH14431;ADZ15952;BAA23735;BAF84265;CAI46070;EAW83275;EAW83276;NP_085056;O43169 Hs.461131 1674993;1675798;1676001;1686420;1856480;2114830;2131631;2173937;2181714;5093598 A009S26;G09709;G32813;RH65268;RH69654;RH69883;RH70407;RH79817;RH99236;SGC33587 CYB5-M;CYPB5M;DKFZp686M0619;OMB5 OTTHUMP00000163977;cytochrome b5 outer mitochondrial membrane isoform;cytochrome b5 type B;cytochrome b5, outer mitochondrial membrane isoform;outer mitochondrial membrane cytochrome b5;type 2 cyt-b5 protein-coding ENSG00000103018 24374 13106 611964 VALIDATED 733318 CYB5R4 cytochrome b5 reductase 4 NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010] 6 6 6 pter-q22.33 85002725 85103498 + 84626089 84726865 + 84569370 84670146 + 1580863;2315647;2315644;6480464 15504981;15247412 10611283;15131110;16381901;16344560;15489336;12477932;11230166;11076863;20630863;19913121;20628086;22990118;22627575 51167 B2R7W7;Q7L1T6 ABBA01040459;ABBA01040460;AF169803;AK313146;AL034347;AL139232;AL832113;AMYH01016471;BC025380;BC029339;DA274558;EU448291;NM_016230 AAF04812;AAH25380;ABM82993;ABM86186;ACA06109;BAG35964;CAL37911;NP_057314;Q7L1T6 Hs.5741 1341090;2109545;2119012;2120526 A006A45;D6S1634;NCB5OR_9678;RH37476 NCB5OR;RP4-676J13.1;cb5/cb5R;dJ676J13.1 N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein;OTTHUMP00000016802;cytochrome b-type NAD(P)H oxidoreductase;cytochrome b5 reductase 4;flavohemoprotein b5+b5R;flavohemoprotein b5/b5R APPROVED protein-coding ENSG00000065615 20147 12218 608343 VALIDATED 2302325 CYB5RL cytochrome b5 reductase-like 1 1 1 p32.3 52925647 52953373 - 54410597 54438334 - 54638009 54665746 - 6480464 16344560;12477932 606495 E9PL89;E9PMD3;F8VW03;F8WDU4;H0YDY7;Q6IPT4 ABBA01074726;ABBA01074727;AK090456;AL357673;AMYH01000632;BC012781;BC038388;BC049198;BC064419;BC071735;CD515193;DA793739;NM_001031672 BAC03437;NP_001026842;Q6IPT4 Hs.591426 1692280;2174040;5022578;5037552;5111307 AL033800;D1S1423;D8S2279;GDB:312766;SHGC-74850 FLJ16295 NADH-cytochrome b5 reductase-like;OTTHUMP00000207717;OTTHUMP00000232139 protein-coding ENSG00000215883 32220 PROVISIONAL 731731 CYB5R3 cytochrome b5 reductase 3 This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010] 22 22 q13.2 41344763 41375349 - 43013846 43045405 - 1580863;734886;1599771;1300048;6480464;6907045;7240710 10874300;11295830 3700359;1400360;9207238;18343696;17620407;16344560;15944396;15921385;15813912;15622768;15502298;15489334;15488472;15461802;15297856;15039026;12884529;12477932;12393396;10807796;10591208;9886302;9695975;9639531;9266404;9136051;9048929;8978818;8427971;8221686;8119939;7718898;7668255;6389526;4403130;3268037;3035541;2498303;2479590;2123873;2107882;2019583;1898726;1707593;1352356;1324793;221468;16009131;16712791;18029348;19811411;19997042;21266463;23297489;22939629;21328435;21447608;21349748;16196087;14741744;23000965;21139048;21890473;21906983;22779921;21319273 1727 B1AHF3;Q9UL55 ABBA01017932;ABBA01017933;AF061830;AF061831;AF361370;AJ010116;AJ010117;AJ010118;AJ310899;AJ310900;AK124528;AK302204;AMYH01012821;AY341030;AY421733;AY421734;BC004821;BM564146;BP425383;BT009821;BX334220;BX366240;CB118906;CH471138;CR456435;DA268749;DA548643;DA966919;DB029897;M16461;M16462;M28705;M28706;M28707;M28708;M28709;M28710;M28711;M28712;M28713;NG_012194;NM_000398;NM_001129819;NM_001171660;NM_001171661;NM_007326;Y09501;Z93241 AAA52306;AAA52307;AAA59900;AAF06818;AAF06819;AAH04821;AAL87744;AAP88823;AAP88936;AAR38507;AAR38508;BAC85875;BAH13649;CAA09006;CAA09007;CAA09008;CAA70696;CAC84523;CAC84524;CAG30321;CAK54426;CAK54725;EAW73268;EAW73269;EAW73270;EAW73271;EAW73272;EAW73273;NP_000389;NP_001123291;NP_001165131;NP_001165132;NP_015565;P00387 Hs.561064 1339305;1657132;1675497;1775492;2129611;2161329;2181842;2220506;5014051;5015619;5022122;5022200;5024756;5037552 AL008666;D11S3114;D16S521;D22S1545;D8S2278;D8S2279;L18426;RH27822;RH70318;RH80030;SHGC-7735;STS-D29393;STS-M16462;UniSTS:483707 B5R;DIA1 NADH-cytochrome b5 reductase 3;NADH-cytochrome b5 reductase 3 membrane-bound form;NADH-cytochrome b5 reductase 3 soluble form;OTTHUMP00000198435;OTTHUMP00000198574;OTTHUMP00000198662;OTTHUMP00000198665;diaphorase 1;diaphorase-1 APPROVED protein-coding ENSG00000100243 2873 08942 250800;613213 REVIEWED 1349144 CYCSP1 cytochrome c, somatic pseudogene 1 14 14 14 q24.3 57138739 57139053 + 76169810 76170124 + 77100057 77100371 + 12909341;2849112 122950 ABBA01030675;AC008050;AF533197;AMYH01005867;M22886;NG_002985 HC5;HCP36 pseudo 20095 INFERRED 1606901 CYCSP10 cytochrome c, somatic pseudogene 10 3 3 3 p25.3 9977774 9978081 - 10017324 10017631 - 10042324 10042631 - 12909341 360166 ABBA01020396;AC022007;AF533171;AMYH01012966;NG_002961 2136811 D3S3451 HCP10 pseudo 24384 INFERRED 1606900 CYCSP11 cytochrome c, somatic pseudogene 11 3 3 3 p25.3 10034699 10035593 - 10074657 10074971 - 10099246 10100140 - 12909341 360167 ABBA01020394;AC034193;AF533172;AMYH01012967;NG_002962;NG_007311 HCP11 pseudo 24385 VALIDATED 1606899 CYCSP12 cytochrome c, somatic pseudogene 12 3 3 3 p25.2 11857485 11857788 - 11895291 11895594 - 11920291 11920594 - 12909341 360168 ABBA01025211;AC090958;AC226154;AF533173;AF533174;AMYH01012980;NG_002963 CYCSP13;HCP12;HCP13 pseudo 24386 INFERRED 1313951 CYBRD1 cytochrome b reductase 1 This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008] 2 2 q31.1 172087229 172122885 + 172378757 172414643 + 6480464 19664597;14499595;18492824;18194661;18092813;17975119;17068337;16344560;15338274;12949720;12477932;11230685;11230166;8125298;20587610;19023099;19673882;23012398 79901 C9JML1;Q9H5G5 ABBA01020726;AC007969;AK026654;AK027115;AK128495;AK225459;AK291731;AK301485;AK316588;AL136693;AL834483;AMYH01011262;BC016900;BC065290;BP418883;CB266594;CB266845;CH471058;CX866825;DA211209;DB000953;DB235339;DQ496101;NM_001127383;NM_001256909;NM_024843 AAH65290;AAY14730;ABF47090;ADR82645;BAB15661;BAC87466;BAF84420;BAG38176;BAG62999;CAB66628;EAX11210;NP_001120855;NP_001243838;NP_079119;Q53TN4 Hs.221941 1339266;1687473;1734926;1764803;1769672;1774338;1774340;1853288;1856235;2117709;2121932;2141444;2171458;2173224;2174832;2175269;5094132 A005Z27;D2S1693E;D2S333;G20626;G54564;RH36126;RH36319;RH45915;RH46529;RH47665;RH67773;RH68494;RH77929;RH80920;SHGC-148368;SHGC-32577;WI-18302 CYB561A2;DCYTB;FLJ23462;FRRS3 OTTHUMP00000163092;OTTHUMP00000205024;OTTHUMP00000205025;OTTHUMP00000205026;cytochrome b reductase 1;cytochrome b561 family, member A2;duodenal cytochrome b;ferric-chelate reductase 3 APPROVED protein-coding ENSG00000071967 20797 05764 605745 VALIDATED 1606898 CYCSP13 cytochrome c, somatic pseudogene 13 p25.2 12909341 360169 AF533174;NG_002964 HCP13 pseudo 24387 1606896 CYCSP16 cytochrome c, somatic pseudogene 16 6 6 6 q15 90130328 90130498 - 89769168 89769338 - 89712449 89712619 - 12909341 360171 ABBA01040523;AF533177;AL079342;AMYH01016498;NG_002966 HCP16 pseudo 24389 INFERRED 1606895 CYCSP17 cytochrome c, somatic pseudogene 17 6 6 6 q16.1 96593395 96593709 + 96058779 96059093 + 95952058 95952372 + 12909341 360172 ABBA01014533;AF533178;AL731777;AMYH01016523;NG_002967 HCP17 pseudo 24390 INFERRED 1606897 CYCSP14 cytochrome c, somatic pseudogene 14 4 4 4 q28.2 128324863 128325159 - 131163192 131163488 - 130943742 130944038 - 12909341 360170 ABBA01044837;AC097481;AF533175;AMYH01014522;NG_002965 HCP14 pseudo 24388 INFERRED 1606894 CYCSP18 cytochrome c, somatic pseudogene 18 7 7 7 q21.3 90456997 90457232 - 95595075 95595310 - 95757139 95757374 - 12909341 360173 AACC02000013;ABBA01045774;AC002540;AF533179;AMYH01017701;CH236949;NG_002968;NG_012247 1336536 D7S1812 HCP18 pseudo 24391 INFERRED 1351760 CYCSP2 cytochrome c, somatic pseudogene 2 15 15 15 q15.1 18168958 18169270 + 39188355 39188667 + 41401063 41401375 + 12909341 360183 ABBA01038425;AC021753;AF533198;AMYH01006568;NG_002986;NG_017163 HCP37 pseudo 24410 INFERRED 1606893 CYCSP19 cytochrome c, somatic pseudogene 19 7 7 7 q31.32 115847699 115848015 + 120825744 120826060 + 121038508 121038824 + 12909341 360174 AACC02000001;ABBA01057760;AC074085;AF533180;AMYH01017897;CH236947;NG_002969 1695512;1846989 D7S1648;SHGC-68665 HCP19 pseudo 24392 INFERRED 1606892 CYCSP22 cytochrome c, somatic pseudogene 22 8 8 8 q11.22 47662888 47663200 - 51837599 51837911 - 51675046 51675358 - 12909341 360175 ABBA01041685;AC087173;AF533183;AMYH01018708;NG_002972 HCP22 pseudo 24396 INFERRED 1606890 CYCSP24 cytochrome c, somatic pseudogene 24 9 9 9 q22.32 67241867 67242182 + 95840133 95840448 + 96800312 96800627 + 12909341;2849112 360177 ABBA01017680;AF533185;AF533192;AL360020;AMYH01021520;M22880;NG_002974 HC3;HCP24;HCP31 pseudo 24398 INFERRED 1606891 CYCSP23 cytochrome c, somatic pseudogene 23 8 8 8 q24.12 116819407 116819725 - 120699577 120699895 - 120630396 120630714 - 12909341 360176 ABBA01037817;AC099818;AF533184;AMYH01018986;NG_002973;NG_029498 HCP23 pseudo 24397 INFERRED 1604546 CYCSP25 cytochrome c, somatic pseudogene 25 11 11 11 p13 31449644 31449963 - 31258791 31259110 - 31302215 31302534 - 12909341;2849112 120528 ABBA01060930;AF533186;AL162614;AMYH01003471;M22892;NG_002975 1664032;1670630 SHGC-32530;STS-AA017167 HC10;HCP25 pseudo 24399 INFERRED 1606889 CYCSP26 cytochrome c, somatic pseudogene 26 11 11 11 q12.1 55129924 55130248 + 57529434 57529758 + 57772858 57773182 + 12909341 360178 ABBA01021483;AF533187;AMYH01003655;AP003484;NG_002976 HCP26 pseudo 24400 INFERRED 1605537 CYCSP27 cytochrome c, somatic pseudogene 27 11 11 11 q13.4 71500059 71500356 + 73870943 73871240 + 74193295 74193592 + 12909341 341148 ABBA01017486;AF533188;AMYH01003813;AP001372;NG_002977 HCP27 pseudo 24401 INFERRED 1604945 CYCSP20 cytochrome c, somatic pseudogene 20 7 7 7 q32.1 123554073 123554387 - 128544803 128545117 - 128757567 128757881 - 12909341 349158 AACC02000035;ABBA01057643;AC011005;AF533181;AMYH01017927;CH236950;NG_002970 HCP20 pseudo 24394 INFERRED 1606888 CYCSP28 cytochrome c, somatic pseudogene 28 11 11 11 q14.1 80349582 80349907 + 82717617 82717942 + 83039969 83040294 + 12909341 360179 ABBA01017362;AF533189;AMYH01003840;AP002500;NG_002978 HCP28 pseudo 24402 INFERRED 1606887 CYCSP29 cytochrome c, somatic pseudogene 29 11 11 11 q22.3 105847925 105848242 - 108198270 108198587 - 108693060 108693377 - 12909341 360180 ABBA01039860;AF533190;AMYH01004023;AP003387;NG_002979 HCP29 pseudo 24403 INFERRED 1606886 CYCSP32 cytochrome c, somatic pseudogene 32 13 13 13 q12.11 1094415 1094732 - 18930541 18930858 - 20032541 20032858 - 12909341 360181 ABBA01068555;AF533193;AL590076;AMYH01004938;NG_002981 HCP32 pseudo 24406 INFERRED 1606745 CYCSP30 cytochrome c, somatic pseudogene 30 12 12 q21.32 86664455 86668222 + 88140324 88144091 + 12909341 121026 ABBA01053430;AC079598;AF533191;AMYH01004645;AMYH01004646;NG_002980 HCP30 pseudo 24405 INFERRED 734174 CYBA cytochrome b-245, alpha polypeptide Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008] 16 16 q24 87237198 87244958 - 88709697 88717492 - 734861;1580275;1580276;1578443;1331525;1600791;1580863;4773907;4780358;4779762;4762683;2317853;4304108;4311041;2317854;1599510;4266589;4772770;1599683;2317864;4775206;2317860;2317852;2306994;4293707;6480464;6907045;7240710 2243141;10488959;12729892;14709372;15118671;1415254;18424632;16608528;18422995;18952568;20018820;19567155;19459419;19685553;16345062;20367952;18716406;15148062;16741160;17109653;18762777;20226688;19420110;20080081 16923427;15824103;11854221;7938008;16326715;12042318;1763037;3305576;12005167;19574552;19564823;19531958;19516159;19448608;19423521;19420105;19401454;19388116;19336475;19260521;19251588;19222940;19203534;19198108;19151692;19126404;19102345;19089790;19043982;19012493;18927546;18849343;18801380;18799874;18720901;18672803;18429753;18413200;18398337;18390927;18327409;18324526;18309110;18239158;18158642;18077487;18004884;17996248;17880563;17703412;17684477;17684442;17627182;17620958;17617024;17565201;17563559;17445342;17383305;17337886;17336700;17314996;17307262;17227953;17200123;17151330;17149600;17140397;17015440;16998253;16922713;16899095;16895900;16794479;16788250;16754784;16738684;16546843;16543247;16460309;16358232;16330681;16308493;16293794;16215641;16115038;16110781;16076760;16002772;15994299;15936011;15927447;15865106;15838728;15683718;15671602;15561711;15538122;15530459;15489334;15461271;15322091;15322037;15256399;15255799;15219943;15210651;15193812;15186954;15172469;15167446;15135268;15102859;15078863;14968555;14747204;14702039;14679084;14652666;14578247;12927691;12772776;12716910;12697486;12679469;12639216;12547880;12514663;12482831;12477932;12446192;12230880;12226552;12147803;12121978;12073015;12056906;11940577;11917128;11910303;11893732;11258927;11133215;11023926;10759707;10486263;9083043;8920944;8798532;7964505;3368442;2469497;2286377;11733522;11530961;22496489;22613645;22807997;20392440;19913121;20454568;20565774;20581851;20598694;20628086;11248021;19292887;19423540;19466604;19578796;19689263;19853876;19949658;19965945;20031716;20100625;20215507;20367096;20375611;20378006;20406964;20438785;20503287;20505675;20512451;9121467;20407811;20495074;20603655;20167518;18546332;21045268;21048031;21082491;21086617;20304964;20523355;20708598;21118808;21282351;21237524;21136016;22919264;21624462;21622150;21777168;21973220;21884584;21962117;18781797;21640156;21906983;23409188;22396743;22747689;19060904;21963094;21988832;22932942;21699462;22410402;23755540;20301301;22268370;22808130;22995606;22357521;22884975;22997914 1535 B4DT46;H3BNP7;H3BPX1;H3BPZ7;H3BR52;H3BT77;P13498 ABBA01015843;AC116552;AK097127;AK125578;AK300049;AK309030;AMYH01007912;BC006465;BC011565;BC028224;BC033739;BT006861;BX109994;CH471184;M21186;NG_007291;NM_000101 AAA90925;AAH06465;AAP35507;ABM84161;ABM87564;BAG61858;EAW66793;EAW66794;EAW66795;EAW66796;NP_000092;P13498 Hs.513803 1725663;2109537;2119060;2119209;2137167;2167330;5015619;5022651;5024756;5037552 D11S2921;D11S3114;D8S2279;G62102;MVD_8513;RH68091;RH80030;SHGC-60150;SHGC-60170;STS-U49260 FLJ43590;FLJ99071;p22-PHOX cytochrome b light chain;cytochrome b(558) alpha chain;cytochrome b(558) alpha-subunit;cytochrome b, alpha polypeptide;cytochrome b-245 light chain;cytochrome b558 alpha-subunit;cytochrome b558 subunit alpha;flavocytochrome b-558 alpha polypeptide;neutrophil cytochrome b 22 kDa polypeptide;p22 phagocyte B-cytochrome;p22phox;superoxide-generating NADPH oxidase light chain subunit APPROVED protein-coding ENSG00000051523 2577 01989 233690;608508 VALIDATED 1352181 CYCSP3 cytochrome c, somatic pseudogene 3 8 8 8 p12 32776857 32777174 - 33946621 33946938 - 33827079 33827396 - 12909341;2849112 349198 ABBA01023600;AF279873;AF533182;AMYH01018635;M22893;NG_002971 HCP21;HS7 pseudo 24395 INFERRED 1606885 CYCSP34 cytochrome c, somatic pseudogene 34 13 13 q14.11 40335730 40336042 - 41437730 41438042 - 12909341 360182 ABBA01021287;AF533195;AL590064;AMYH01005059;NG_002983 HCP34 pseudo 24408 INFERRED 1606675 CYCSP33 cytochrome c, somatic pseudogene 33 13 13 13 q12.12 6038152 6038469 + 23872850 23873167 + 24974850 24975167 + 12909341 221180 ABBA01007889;AF533194;AL359763;AMYH01004973;NG_002982 HCP33 pseudo 24407 INFERRED 1606884 CYCSP38 cytochrome c, somatic pseudogene 38 15 15 15 q21.3 37738772 37739045 + 58637571 58637844 + 60850279 60850552 + 12909341;2849112 360184 ABBA01038944;AC107241;AF533199;AMYH01006692;M22879;NG_002987;NG_029246 HC2;HCP38 pseudo 24411 INFERRED 1606906 CYCSP4 cytochrome c, somatic pseudogene 4 1 1 1 q32.1 175462559 175462835 - 200605277 200605553 - 202338654 202338930 - 12909341 360157 ABBA01027501;AF533165;AL589762;AMYH01001648;NG_002955 HCP4 pseudo 24413 INFERRED 1605807 CYCSP39 cytochrome c, somatic pseudogene 39 16 16 16 p12.1 24244027 24244335 - 25373161 25373469 - 25465660 25465968 - 12909341;2849112 342358 ABBA01017125;AC130451;AF533200;AMYH01007400;M22878;NG_002988 HC1;HCP39 pseudo 24412 INFERRED 1604248 CYCSP35 cytochrome c, somatic pseudogene 35 13 13 13 q32.2 80125950 80126262 - 98079939 98080251 - 99281938 99282250 - 12909341;2849112 121916 ABBA01027136;AF533196;AL356423;AMYH01005323;M22891;NG_002984 HC8;HCP35 pseudo 24409 INFERRED 1606883 CYCSP40 cytochrome c, somatic pseudogene 40 17 17 17 q25.3 71790969 71791211 - 72706978 72707220 - 75195383 75195625 - 12909341;2849112 360185 ABBA01028714;AC068594;AF533201;AMYH01008654;M22890;NG_002989 HC7;HCP40 pseudo 24414 INFERRED 1345481 CYCSP41 cytochrome c, somatic pseudogene 41 21 21 p11 9957846 9958038 - 10935975 10936167 - 12909341;10830953 360186 ABBA01150625;AF533202;AL078471;AMYH01012129;NG_002990 1794184 PMC310823P6 CYC1LP4;HCP41 cytochrome c-1-like pseudogene 4 pseudo 2580 INFERRED 1606882 CYCSP43 cytochrome c, somatic pseudogene 43 X X X q13.1 69058521 69058832 - 68621909 68622220 - 68705184 68705495 - 12909341 360187 ABBA01067466;AF533204;AL139110;AMYH01022521;NG_002992 HCP43 pseudo 24417 INFERRED 1348868 CYCSP42 cytochrome c, somatic pseudogene 42 21 21 21 q21.1 2033087 2033345 - 15784714 15784972 - 16862843 16863101 - 12909341;10830953 343727 ABBA01057086;AF533203;AJ009632;AMYH01012142;NG_002991 CYC1LP5;HCP42 cytochrome c-1-like pseudogene 5 pseudo 2581 INFERRED 1605528 CYCSP45 cytochrome c, somatic pseudogene 45 X X X q28 153340388 153340705 + 152759900 152760217 + 153106706 153107023 + 12909341 352852 ABBA01045348;AF533206;AMYH01023302;NG_002994;U52111 1694398 G42894 HCP45 pseudo 24419 INFERRED 1605542 CYCSP46 cytochrome c, somatic pseudogene 46 Y Y Y q11.221 4038512 4039572 - 15561863 15563123 - 17052569 17053629 - 12909341;12815422;9847074 286550 ABBA01056997;AC006989;AF533207;AF533208;NG_002926 HCP46;HCP47 pseudo 23941 INFERRED 1606880 CYCSP49 cytochrome c, somatic pseudogene 49 q11.223 12909341;12815422 360189 AC019099;AF533210;NG_002999 HCP49 pseudo 23943 1606881 CYCSP48 cytochrome c, somatic pseudogene 48 Y Y Y q11.223 9479090 9479366 + 26956489 26956765 + 28547101 28547377 + 12909341;12815422 360188 ABBA01015506;AC013734;AF533209;NG_002995 HCP48 pseudo 23942 INFERRED 1604468 CYCSP44 cytochrome c, somatic pseudogene 44 X X X q27.3 144570534 144570853 + 144065794 144066113 + 144258102 144258421 + 12909341;20889312 349391 ABBA01054431;AF533205;AL139112;AMYH01023155;NG_002993 HCP44 pseudo 24418 INFERRED 1606905 CYCSP5 cytochrome c, somatic pseudogene 5 1 1 1 q44 218051591 218051888 - 242828315 242828612 - 244761692 244761989 - 12909341;12815422 360158 ABBA01047195;AC099757;AF533166;AMYH01001895;NG_002956;NG_029082 HCP5 pseudo 24416 INFERRED 1350492 CYBB cytochrome b-245, beta polypeptide Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008] X X p21.1 37524264 37557658 + 37639270 37672714 + 1599691;1580863;1599682;1599677;1599680;1599681;1599685;1599690;1599683;1599664;4762683;6480464;7240710 11157681;15550752;16766636;16671452;16373592;12472782;11243862;15148062;8083361;18952568 22690528;18402299;18402298;18321306;18278805;18202172;18089853;17940286;17363703;17089090;17060362;17015440;16987004;16895900;16839887;16608528;16516412;16354686;16344560;16260066;16179592;15883163;15777347;15706079;15684431;15681849;15569826;15489334;15479231;15454837;15377283;15322037;15308575;15256399;15249506;15233623;15181570;15102091;14605447;12772776;12768347;12589359;12482831;12477932;12139950;11997083;11926990;11917128;11893732;11511930;11462241;11258927;9774399;3305576;12042318;12716910;7719350;19536508;19410294;19401454;19390057;19337723;19307214;19265148;19118104;19116138;18774749;18682599;18676680;18523147;18473264;18467643;18453612;10974555;10914676;10578014;9888386;9856476;9790760;9667376;9585602;9111587;9083071;9083043;8634708;8182143;8101486;7938008;7927345;7694872;3600769;3600768;2556453;2425263;2243141;1905983;1710153;20407811;11248021;17848987;18397177;18783311;19170196;19217269;19625176;19692168;19708127;19717732;19801678;19805647;19839755;19843513;19895673;19965781;19995913;20036216;20056178;20346360;20375611;20495074;20630999;20729109;20043988;19929442;20219570;18546332;20724480;20861446;21029719;21042717;20708598;20832062;21124855;20813210;21278736;20080418;21071703;20803017;21278346;22382877;22727869;22933115;23095975;21683690;22562447;21636808;23349115;22865553;21444627;21956105;22277655;21524749;21742780;22272860;22125116;22354003;22493499;21604087;21906983;22399808;21796650;21901141;21659519;22287576;22191478;22383943;22550344;23237808;23118986;23333803;23288160;20849923;21172429;22528837;23476056;22808130;20301301 1536 F5GWD2;F5GWU5;P04839 AB013904;ABBA01047084;ABBA01047085;ABBA01047086;ABBA01047087;ABBA01047088;ABBA01047089;AC233292;AF469769;AK289753;AK301476;AK301491;AK304033;AK312929;AL627245;AMYH01022211;BC032720;CH471141;DA995835;DQ314869;NG_009065;NM_000397;S67289;X04011;X05895 AAB29151;AAH32720;AAL76082;ABC40728;ABM81804;ABM84958;BAA34183;BAF82442;BAG62993;BAG63002;BAG64947;CAA27635;CAA29327;EAW59453;NP_000388;P04839 Hs.292356 1702446;1702474;1765043;1787236;2130562;2143857;2150995;2182711 AF020154;DXS1394;DXS7487;G10525;GDB:211078;RH35737;SHGC-132083;SHGC-148585 AMCBX2;CGD;GP91-1;GP91-PHOX;GP91PHOX;NOX2;p91-PHOX CGD91-phox;NADPH oxidase 2;OTTHUMP00000031915;cytochrome b(558) subunit beta;cytochrome b-245 heavy chain;cytochrome b558 subunit beta;heme-binding membrane glycoprotein gp91phox;neutrophil cytochrome b 91 kDa polypeptide;p22 phagocyte B-cytochrome;superoxide-generating NADPH oxidase heavy chain subunit APPROVED protein-coding ENSG00000165168 2578 02382 300481;300645;306400 REVIEWED 1603339 CYCSP52 cytochrome c, somatic pseudogene 52 1 1 1 q22 130169345 130169654 + 155364778 155365087 + 157098154 157098463 + 12909341;2849112 360155 ABBA01016640;AF533163;AL157713;AMYH01001441;M22889;NR_001560;R91166;R91214 Hs.491808 HC6;HCP2 pseudo ENSG00000235700 24393 PROVISIONAL 1603851 CYCSP51 cytochrome c, somatic pseudogene 51 1 1 1 q21.3 123992066 123992383 + 149142996 149143313 + 150876372 150876689 + 12909341 343045 ABBA01049360;AF533162;AL355860;AMYH01001385;NG_002953 HCP1 pseudo 24383 INFERRED 2881605 CYCSP54 cytochrome c, somatic pseudogene 54 Y Y Y q11.223 9627367 9628299 + 27104950 27105882 + 28695562 28696494 + 12815422;9847074 360009 AC019099;NG_002927 pseudo 23944 1606903 CYCSP8 cytochrome c, somatic pseudogene 8 2 2 2 q21.1 125039151 125039462 - 131250689 131251000 + 131534219 131534530 + 12909341 360160 ABBA01019374;AC140481;AF533169;AMYH01011081;NG_002959 HCP8 pseudo 24423 INFERRED 1606907 CYCSP53 cytochrome c, somatic pseudogene 53 1 1 1 q23.3 144523236 144523515 - 169680447 169680726 - 171413823 171414102 - 12909341 360156 ABBA01027930;AF533164;AL049762;AMYH01001495;NG_002954 HCP3 pseudo 24404 INFERRED 1351407 CYCSP55 cytochrome c, somatic pseudogene 55 6 6 6 p21.31 35741510 35743076 + 34295196 34295828 + 34187149 34188714 + 12909341;2849112 157317 ABBA01038177;AF533176;AL354740;AMYH01016253;M22900;NG_007352 CYCSL1;HCP15;HS11;bA513I15.3 APPROVED pseudo 21252 VALIDATED 2859621 CYCTP cytochrome c, testis, pseudogene 2 2 2 q31.2 172560128 172572098 - 178665473 178677443 - 178957227 178969197 - 6480464 12909341;20210993 360163 ABBA01062241;AC011998;AF533170;AMYH01011304;NG_002960;NG_012168 HCP9 pseudo 24424 INFERRED 1604219 CYCSP7 cytochrome c, somatic pseudogene 7 2 2 2 q11.2 95190807 95191529 - 100353136 100353439 - 100986291 100987013 - 12909341 164837 ABBA01073933;AC012493;AF533168;AMYH01010809;NG_002958 HCP7 pseudo 24422 INFERRED 1315303 CYC1 cytochrome c-1 8 8 q24.3 145221948 145224416 + 145149960 145152428 + 1580863;1300048;6480464;6907045 2536365;16699948;15544925;15489334;14966123;12788227;12750404;12750393;12477932;12096338;12095993;11790791;11181702;10453733;8188279;8125298;6262312;3036122;2999105;2844747;2836796;16511342;20628624;18029348;20562859;20877624;20440543;21577235;17500595;22939629;22990118;20360068;21139048;21890473;21906983;22505724 1537 P08574;Q8TBT6 ABBA01005225;AC104592;AK026633;AK225796;AMYH01019127;BC001006;BC015616;BC020566;BC024650;BE336714;BT019798;CH471162;CR541674;CR735564;DQ300360;J04444;M16597;NM_001916;X06994 AAA35730;AAA52135;AAH01006;AAH15616;AAH20566;AAH24650;AAV38601;ABB96244;ABM82412;ABM85597;CAA30052;CAG46475;EAW82160;NP_001907;P08574 Hs.289271 2142930 RH11674 UQCR4 OTTHUMP00000229040;complex III subunit 4;complex III subunit IV;cytochrome b-c1 complex subunit 4;cytochrome c1, heme protein, mitochondrial;ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit protein-coding ENSG00000179091 2579 00480 123980 VALIDATED 1606904 CYCSP6 cytochrome c, somatic pseudogene 6 2 2 2 p12 78468716 78469026 - 78493418 78493728 - 78639910 78640220 - 6480464 12909341;12477932;18951430 360159 ABBA01075652;AC064872;AF533167;AMYH01010468;NG_002957 HCP6;MGC33502 pseudo 24421 INFERRED 1604618 CYCS cytochrome c, somatic This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010] 7 7 p15.3 25124800 25131480 - 25158270 25164980 - 2313963;2313998;2317615;2317614;6480464;6484113;6907045;7240710 18817839;18931364;19788692;11920648 8689682;9515723;9267021;8206937;10383829;9390557;9922454;11256614;19404857;19172527;19029908;18825408;18417609;18345000;16934433;16713569;16381901;15489336;15489334;14702039;14063298;13933734;12909341;12853948;12690205;12555167;12477932;12416732;12243190;12147322;12101247;11839755;11790791;11784858;11737208;11230166;11076863;10980706;10818086;10801801;10683230;10625700;10622714;10506125;10082581;9847074;9760250;9615439;9192670;9027314;8663341;6270113;6262312;6251869;6088481;6087732;4403130;2849112;2844747;2580882;2153405;1309738;199233;15033690;11462036;11193032;12019321;11739707;16520893;12404116;15698476;15691386;17353931;21319273;20227384;21751259;10206961;19640329;19851871;19875445;19895853;20237496;19770576;20877624;21712378;21192676;16196087;22939629;21448217;21869827;22102269;22184220;22192356;21139048;21693764;20972266;21706253;21890473;21906983;22157762;22320973;22363611;22623428;23000965;23150584;23207240;23070294;15254227;17409234;18973553;19458171;19812265;22216281;22505724;22552851;22632162;23535033 54205 C9JFR7;G4XXL9;P99999 AACC02000007;ABBA01056732;AC004129;AC007487;AI365318;AK056360;AK311836;AL713681;AMYH01017122;BC005299;BC008475;BC008477;BC009578;BC009579;BC009582;BC009587;BC009602;BC009607;BC014359;BC014361;BC015130;BC016006;BC021994;BC022330;BC024216;BC067222;BC068464;BC070156;BC070346;BC071761;BF446772;BG677560;BT006946;BU597562;CH236948;CH471073;CR542175;D00265;DB447825;M22877;NG_023438;NM_018947 AAA35732;AAH05299;AAH08475;AAH08477;AAH09578;AAH09579;AAH09582;AAH09587;AAH09602;AAH09607;AAH14359;AAH14361;AAH15130;AAH16006;AAH21994;AAH22330;AAH67222;AAH68464;AAH70156;AAH70346;AAH71761;AAP35592;AAQ96844;ABM83964;ABM87278;BAA00187;BAG34778;CAD28485;CAG46972;CAL38091;CAL38301;EAL24239;EAW93822;EAW93823;EAW93824;NP_061820;P99999 Hs.437060;Hs.617193 1655798;2122196;5015879;5016478;5016700;5020881;5117897;5123731 D1S3438;GDB:314949;GDB:434012;GDB:631813;L17709;RH78202;RH79802;SHGC-60475 CYC;HCS;THC4 OTTHUMP00000158609;OTTHUMP00000202043;OTTHUMP00000202044;OTTHUMP00000202045;cytochrome c APPROVED protein-coding 19986 00479 123970;612004 REVIEWED 1345183 CYGB cytoglobin This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012] 17 17 q25 72035035 72045377 - 74523430 74533987 - 1580863;6480464 22025306;11919282;11320098;19568272;19147491;19001220;18794132;18353768;17936249;16797742;16699195;16698880;16510494;16449996;16201751;15819897;15489334;15299006;15165856;15095869;15052627;14702039;14660570;14530264;12796507;12718557;12477932;12359339;11893755;15090612;22344671;22359545;20511233;20553503;21171964;22896706;21631290;21674044;22577939;23308092;22645275;22750003 114757 K7EIM9;K7EMC7;Q8WWM9 AB057769;ABBA01028739;AC015802;AI470692;AJ315162;AK098057;AMYH01008644;AMYH01008645;BC029798;BQ881744;BX647425;CH471099;NG_016702;NM_134268 AAH29798;BAB87840;BAC05223;CAC86186;EAW89405;EAW89406;NP_599030;Q8WWM9 Hs.95120 1335368;1688289;1709176 D15S1009;RH94299;SHGC-85751 HGB;STAP cytoglobin;histoglobin;stellate cell activation-associated protein APPROVED protein-coding ENSG00000161544 16505 06479 608759 VALIDATED 1347835 CYMD cystoid macular dystrophy 7240710 8004098 1541 2587 1344193 CYHR1 cysteine/histidine-rich 1 8 8 8 q24.3 141849696 141865276 - 145660016 145661657 - 145675315 145691031 - 6480464 14702039;12477932;10745073;9455484;8889548;22863883;22118674;21890473;21906983;21963094;21988832 50626 E9PJD7;E9PN77;E9PPA8;E9PQ42;Q6ZMK1 AB007965;ABBA01005204;ABBA01005205;AC084125;AK094514;AK160381;AMYH01019153;AMYH01019154;BC004544;BC005073;BC056412;BC065484;BM671891;CH471162;NM_001129888;NM_032687;NM_138496 AAH04544;AAH05073;AAH65484;BAD18724;BAG52882;EAW82088;EAW82089;EAW82090;EAW82091;NP_001123360;NP_116076;NP_612505;Q6ZMK1 Hs.459379 1682151;2147113;5037552 D8S2279;RH65026;RH65304 CHRP;KIAA0496;MGC13010 OTTHUMP00000228763;OTTHUMP00000228765;OTTHUMP00000228770;OTTHUMP00000228771;OTTHUMP00000228772;OTTHUMP00000228773;cysteine and histidine rich 1;cysteine and histidine rich protein;cysteine and histidine-rich protein 1 protein-coding ENSG00000187954 17806 13107 VALIDATED 1344324 CYMP chymosin pseudogene 1 1 1 p13.3 109270577 109281081 + 110824911 110835414 + 111023388 111033891 + 6480464 22610502;16344560;2210384;2071156;1812698 643160 ABBA01068393;AK310315;AL358215;AMYH01000945;NR_003599 Hs.532720 1689278;1692148 AL033707;RH92129 pseudo ENSG00000240194 2588 118943 VALIDATED 1348149 CYLC1 cylicin, basic protein of sperm head cytoskeleton 1 This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] X X X q21.1 83353564 83379026 + 83002826 83028282 + 83116170 83141626 + 1580863;6480464 8354692;15772651;15489334;12509440;12477932;7737358;19679225 1538 P35663;Q6PEK4 ABBA01041621;ABBA01041622;ABBA01041623;ABBA01041624;AL354653;AL627233;AMYH01022657;AMYH01022658;BC021669;BC038787;BC058019;BC070355;BC126461;BX110674;DB028115;DB049397;HC006894;HC044615;NM_001271680;NM_021118;Z22780 AAH38787;AAH58019;AAH70355;AAI26462;ADR83231;CAA80457;CBH19252;CBH30637;NP_001258609;NP_066941;P35663 Hs.444230 1701780;7183963 DXS6946E CYCL1 OTTHUMP00000023617;cylicin 1;cylicin I;cylicin-1;multiple-band polypeptide I protein-coding ENSG00000183035 2582 300768 REVIEWED 5129241 CYorf17 chromosome Y open reading frame 17 Y q11.223 23545072 23548149 - 14702039 100533178 Q9H606 ABBA01057541;AC010086;CH471208;XM_003846320;XM_003846787 EAX11709;Q9H606;XP_003846368;XP_003846835 Putative uncharacterized protein CYorf17;chromosome Y open reading frame 17 protein-coding 38732 MODEL 1312845 CYFIP2 cytoplasmic FMR1 interacting protein 2 5 5 q33.3 156625669 156755184 + 156693091 156822606 + 6480464;6484113 22430187;15048733;10449408;11438699;19247692;17245118;16381901;15731336;15489336;15489334;15324660;15048123;14676191;14506234;12477932;12181570;11230166;11076863;10574461;9463375;8605018;8125298;12837692;15294869;16055720;16862120;17101133;19041431;19910030;19951440;20228810;21252116;21139048;21890473;21906983;22268788;21706016;21988832;23382691;22505724;18387192 26999 E5RFQ0;E5RJW3;E5RKA3;E7EVF4;E7EVJ5;E7EW33;E7EWA4;F5H583;H7C229;Q96F07 AB032994;ABBA01044271;ABBA01044272;AC008676;AC009185;AC016571;AF132197;AF160973;AK172724;AK223604;AK294220;AK295865;AK297401;AK303702;AK312157;AL136549;AL161999;AL559919;AMYH01015744;AMYH01015745;BC011762;BC021008;BC026892;BC066933;BG257432;CH471062;L47738;NM_001037332;NM_001037333;NM_014376 AAA79022;AAD45723;AAG35543;AAH11762;ABM84454;ABM87614;BAA86482;BAD97324;BAG35091;BAH11703;BAH12208;BAH12569;BAH14023;CAB66484;CAB82329;CAL38237;CAL38299;EAW61603;EAW61604;EAW61605;EAW61606;NP_001032409;NP_001032410;NP_055191;Q96F07 Hs.519702 1701532;1715943;1718863;1719019;1742769;1765399;1766543;1772417;1776897;1785634;1855533;2134549;2161402;2162669;2180123;5094938 A006W02;CYFIP2;GDB:204180;L31454;RH104399;RH122707;RH123135;RH123216;RH15890;RH18378;RH45525;SHGC-148883;SHGC-149861;SHGC-156113;STS-M62008;WIAF-2159 PIR121 OTTHUMP00000224059;OTTHUMP00000224063;cytoplasmic FMR1-interacting protein 2;p53 inducible protein;p53-inducible protein 121 protein-coding ENSG00000055163 13760 07556 606323 VALIDATED 1321175 CYFIP1 cytoplasmic FMR1 interacting protein 1 15 15 15 q11 1376209 1487232 - 20444125 20555044 + 22892684 23003603 + 6480464 16260607;19524508;16982806;15489334;15048123;14702039;14676191;14508708;12477932;11438699;9463375;9417078;7584044;16055720;16751776;15294869;18805096;20228810;20298200;20811636;22863883;21875946;21139048;21890473;21906983;22505724;22797925 23191 H0YL39;H0YL50;H0YLJ5;H0YN93;H0YNK3;H0YNP0;Q7L576 ABBA01040251;ABBA01040252;ABBA01040253;ABBA01040254;AC011767;AC090764;AK024816;AK125784;AK125936;AK127094;AK291604;AL357618;AMYH01006380;AY763577;AY763578;AY763579;AY763580;BC001306;BC005097;BC063869;BF979687;CH471258;D38549;NM_001033028;NM_014608 AAH01306;AAH05097;AAW51476;AAW51477;AAW51478;AAW51479;ABM87438;ABW03890;BAA07552;BAC86825;BAF84293;BAG54247;BAG54268;EAW65555;NP_001028200;NP_055423;Q7L576 Hs.26704 1335385;1649132;1659040;1668306;1682143;1685319;1685668;1694760;1707480;1708608;1709450;1730495;1732790;1736506;2176035;2181976;2217232 CYFIP1_3298;D15S1035;D15S1260;D15S18;D15S542;D15S714E;G10722;G43583;HSC15C102;NIB1540;RH1641;RH64908;RH91787;RH94274;SHGC-81768;SHGC-84535;SHGC-85095 FLJ45151;P140SRA-1;SHYC;SRA1 OTTHUMP00000159353;cytoplasmic FMR1-interacting protein 1;cytoplasmic FMRP interacting protein 1;selective hybridizing clone;specifically Rac1-associated protein 1;sra-1 protein-coding ENSG00000068793 13759 05890 606322 VALIDATED 1344761 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 76262286 76285463 + 104797484 104820591 + 105757593 105780770 + 1580863;6480464 7737358;18978678;15489334;15164053;12747772;12477932;20677014;20811636;23251661 1539 Q14093;Q6PEJ5 ABBA01042847;ABBA01042848;AK313349;AL359679;AL449304;AMYH01021585;AMYH01021586;AMYH01021587;AMYH01021588;BC058038;BC114547;BX097520;CH471105;HC044541;NM_001340;Z46788 AAH58038;AAI14548;BAG36151;CAA86752;CBH30600;EAW58966;EAW58967;EAW58968;NP_001331;Q14093 Hs.3232 1339131;1722731;2130566 D9S277;G60303;SGC35501 MGC129591 OTTHUMP00000215903;OTTHUMP00000215904;cylicin II;cylicin-2;multiple-band polypeptide II APPROVED protein-coding ENSG00000155833 2583 04945 604035 REVIEWED 1346128 CYP17A1-AS1 CYP17A1 antisense RNA 1 10 q24.32 104590493 104594273 + 19430479;19915575 414269 ABBA01063132;AL358790;AMYH01003020;XR_132782;XR_132947;XR_171867 Hs.728936 CYP17A1OS;bA753C18.3 cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand APPROVED miscrna 31671 MODEL 1350080 CYorf15B chromosome Y open reading frame 15B Y Y Y q11.222 6005844 6015100 - 20213724 20225769 + 21758442 21767698 + 6480464 17213182;16344560;12815422;12477932 84663 Q8N4A2;Q9BZA4 AC009977;AC010889;AF332225;AL832583;BC035312;CH471202;DB132733;DT220167;NM_032576 AAH35312;AAK13477;CAD89940;EAW54665;NP_115965;Q8N4A2;Q9BZA4 Hs.592254 2188849;2189055;2189065;5095191;5095193;5095195;5095197 CYorf15B-1;CYorf15B-2;CYorf15B-3;CYorf15B-4;G65858;G65914;G65919 OTTHUMP00000034663;lipopolysaccaride-specific response 5-like protein protein-coding 18577 15961 VALIDATED 736494 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008] 8 8 q21-q22 143988977 143996261 - 143991975 143999259 - 1576426;1576427;1576428;1576429;727991;1300048;1580863;1600824;2307288;2307309;2307295;2307306;2307308;2307297;2307307;2307289;2307294;2307303;2307304;4891151;4891156;4891162;4891377;4891170;4891147;4891150;4891416;4889549;4891152;4891155;6480464;6907045;7240710 12031704;11113012;15569322;15522937;11832364;1594605;18771471;15364804;16672053;18154949;15894891;11687612;15939810;18582458;17261471;18689429;18495825;11275936;19837774;19571523;16938653;12457455;19923365;9494027;16495212;15583024;10024332;1731223 17334644;17334527;17318792;17296872;17273158;17190732;17143166;17075029;17003099;16984984;16979018;16893516;16796847;16780672;16767667;16765146;16759311;16714246;16638864;16615274;16580565;16485730;16468060;16396990;16303227;16208140;16207322;16126185;16110193;16080805;16080804;16078594;15914614;15894890;15882548;15824464;15699546;15662219;15643128;15614025;15611122;15600184;15583997;15573760;15545843;15532370;15507509;15505931;15479186;15378162;15361760;15272911;15238568;15230231;15223724;15135254;15128046;15102677;15097233;15062555;15055249;14736447;14704730;14643573;14530292;14508191;12832734;12817181;12788848;12788845;12783697;12746403;12627873;12624609;12611423;12544508;12544440;12477932;12446468;12446192;12444540;12391843;12376254;12213905;12205735;12195120;12193581;12172317;12161536;12137808;12133420;12107246;12065207;12022239;11967817;11932209;11923700;11910301;11903322;11856349;11841224;11728946;11728005;11725161;11711524;11711521;11696688;11696658;11587161;11518842;11447495;11422735;11422106;11325068;11288810;11245725;11238478;11116113;11076863;10902803;10411633;10391210;10391209;10371693;9931115;9814506;9625333;9506770;9360501;9177280;8954040;8439335;8372604;2256920;1741400;9703385;9838244;14614232;19407459;19343046;19332265;19262476;19254215;19253715;19243623;19166692;19151144;19117407;19116236;19112833;19093739;19026620;18974272;18856058;18855530;18773126;18660489;18638595;18636124;18446309;18413308;18397978;18260994;18260840;18202594;18192839;17987391;17984617;17980006;17851694;17762647;17698557;17664852;17633457;17631084;17546276;17531119;17519002;17407071;17383306;22311496;21127960;7792802;3872685;2592361;1775135;1518866;1346492;1303253;22652909;21163122;21228735;19913121;20560800;20598712;20628086;20659024;20662731;20708777;18710464;19158234;19418629;19609286;19729965;19776632;19779464;19786005;19820005;19853701;19948975;19956635;20094057;20097716;20176774;20182453;20193236;20193392;20214802;20224556;20300066;20339375;20381197;20416077;20486282;20535141;20537417;20494601;20123934;20808686;20413672;20831027;20877624;20878543;20966514;21125974;19342457;21239432;21164264;23135028;21269059;21106862;21476902;21625068;20634641;17651452;21092623;21357309;21777344;23209837;22083159;21846681;22217843;21682760;22156739;22134143;22331364;22508051;22801770;23150505;23443813;23133610;23023242;22885098 1585 P19099;Q16316 ABBA01005284;AC073385;AMYH01019094;CH471162;D10170;D13752;EU326306;M32881;NG_008374;NM_000498;S77397;S77409;X54741 AAA35741;AAB34642;AAB34643;AAI11459;ACA05912;BAA01040;BAA02899;CAA38539;EAW82292;NP_000489;P19099 Hs.632054 1694508;1745753;1794862;1797458;1797460;2137853;2154712;2176832 CYP11B1_2340;CYP11B2_1990;GDB:635986;PMC60851P1;RH121974;RH18106;RH79160;STS-M32879 ALDOS;CPN2;CYP11B;CYP11BL;CYPXIB2;P-450C18;P450C18;P450aldo CYPXIB2;OTTHUMP00000217871;aldosterone synthase;aldosterone-synthesizing enzyme;cytochrome P-450Aldo;cytochrome P-450C18;cytochrome P450 11B2, mitochondrial;cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2;cytochrome p450, subfamily 11b, polypeptide 2;mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2;steroid 11-beta-monooxygenase;steroid 11-beta/18-hydroxylase;steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo APPROVED protein-coding ENSG00000179142 2592 00492 124080;203400;610600 REVIEWED 70835 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 8 8 q21 143950775 143958238 - 143953773 143961236 - 1300048;1580863;1600799;69709;734864;4145630;4891156;4889549;4891147;4891170;4891155;6480464;6907045;7240710 8964882;7981756;1430088;19349910;19837774;15583024;19923365;12457455;1731223 2256920;8506298;2022736;16114325;12452430;15026188;19336370;19082699;18974272;18663314;18661760;18636124;18397978;18294861;18215163;17980006;17556864;17296872;17121536;17075029;16984984;16396990;16110193;16030166;15793791;15755848;15751602;15699546;15522937;15507509;15324322;15128046;15062555;14702039;14682466;12477932;11932209;11903322;11675945;11549691;11549669;11095433;10599751;10411633;10391210;10391209;9302260;8372604;7903314;3499608;2592361;2401360;1741400;1518866;1303253;19913121;20529578;20628086;20708777;19453261;19567537;19598235;19820005;19844114;20089618;20214802;20339375;20486282;20808686;20877624;20523022;21164264;20331679;20947076;19342457;23150505;20634641;17651452;21625068;21848792;23146819;22083159;22217843;22921894;22964742 1584 H0YBR4;P15538;Q4VAR0;Q8TDD0 ABBA01005284;AC083841;AF478474;AJ431380;AJ431381;AJ431382;AK094090;AMYH01019094;BC096285;BC096286;BC096287;BX647738;CH471162;D10169;D16153;D16155;EU332839;M24667;M32863;M32879;NG_007954;NM_000497;NM_001026213;X55764 AAA52148;AAA52149;AAH96285;AAH96286;AAH96287;AAL84813;ABY87528;BAA01039;BAA03717;BAB71992;BAC04283;CAA39290;CAD24088;CAD24089;CAD24090;EAW82293;EAW82294;EAW82295;NP_000488;NP_001021384;P15538 Hs.184927 1677130;1794862;1797458;2176832 CYP11B1_2340;PMC60851P1;RH80276;STS-M32879 CPN1;CYP11B;DKFZp686B05283;FHI;FLJ36771;P450C11 CYPXIB1;OTTHUMP00000227075;OTTHUMP00000227076;OTTHUMP00000227176;cytochrome P-450c11;cytochrome P450 11B1, mitochondrial;cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1;cytochrome P450C11;cytochrome p450 XIB1;steroid 11-beta-hydroxylase;steroid 11-beta-monooxygenase APPROVED protein-coding 2591 01943 103900;202010;610613 REVIEWED 1319183 CYLD cylindromatosis (turban tumor syndrome) This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 q12.1 49333462 49393347 + 50775961 50835846 + 1601033;6480464;6484113;6907045;7240710 10835629 17148452;17981138;19462465;19481526;19615732;19800320;21420166;22017589;17851586;17662085;17609426;17608805;17606441;17495026;17925880;17081983;17875891;16774947;16713561;16627981;16501569;16500080;16350444;16344560;16230348;16135788;15870263;15496400;15489334;15341735;15289313;15226292;15086550;14702039;14676304;14632188;12917691;12917690;12917689;12477932;12168954;11042152;10792569;19076795;18636086;18497946;18363762;18332137;18313383;18245814;18242958;18234730;18222923;10480375;10048485;8649842;8125298;7493027;22491319;19373254;22157808;22318606;20151946;20414373;20593489;19913121;20628086;19807742;19893491;19911186;19917957;19951577;20227366;20832754;20607853;20838385;20854080;20347313;20502185;20797623;21389835;20972631;23002441;21408173;21718647;22895009;19201866;21552290;21900959;22057290;21478324;21605102;22077640;21498625;21577203;22037414;22689134;23300340;20622874;21139048;21931648;22019778;22412388;22469839;22362744;22297296;22848449;18977328;21988832;22832488;23000965;23405219;23453969;23171463;22504420;22505724;22049921;22990857 1540 F5H2R7;H3BPZ5;H3BS09;H3BSW9;H3BTB8;I3L117;J3KRR7;J3QKR2;Q9NQC7 ABBA01000864;ABBA01000865;ABBA01000866;AC007728;AF161542;AJ250014;AK000187;AK024212;AK024348;AK056226;AK225202;AK292975;AK310832;AL050166;AMYH01007663;BC012342;BI458962;BX642061;CH471092;CQ834224;DA157717;DA785459;DA940312;DB119480;FN823255;NG_012061;NM_001042355;NM_001042412;NM_015247 AAF29029;AAH12342;BAF85664;BAG51271;BAG51293;CAB93533;CAH05327;CBL94217;EAW82768;EAW82769;EAW82770;EAW82771;EAW82772;EAW82773;NP_001035814;NP_001035877;NP_056062;Q9NQC7 Hs.578973 1336553;1339194;1675599;1683345;1688316;1695764;1738479;1789432;1789438;2110351;2118515;2122880;2178786;2182261;5014023;7186523 CYLD__4662;D13S1553;D16S2680;D16S308;D16S503;D16S514;G67953;G67954;RH48312;RH64884;RH92056;RH94254;SGC32374;SHGC-60837;SHGC-78760 BRSS;CDMT;CYLD1;CYLDI;EAC;FLJ20180;FLJ31664;FLJ78684;HSPC057;KIAA0849;MFT;MFT1;SBS;TEM;USPL2 deubiquitinating enzyme CYLD;probable ubiquitin carboxyl-terminal hydrolase CYLD;ubiquitin carboxyl-terminal hydrolase CYLD;ubiquitin specific peptidase like 2;ubiquitin thioesterase CYLD;ubiquitin thiolesterase CYLD;ubiquitin-specific-processing protease CYLD APPROVED protein-coding ENSG00000083799 2584 05427 132700;601606;605018;605041 REVIEWED 735631 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008] 15 15 q23-q24 72417156 72447134 - 74630103 74660081 - 1580863;1599699;1599701;1599693;1599696;1599698;4785271;4832477;4833436;4889107;4889134;2325883;4145630;4892309;6480464;4145530;6907045;7240710 16329132;16116051;12161514;16780839;16574160;18353182;17881205;17880366;18481435;16632873;18821018;19349910;17926129;20826654 21520051;11502818;18182448;19336370;19300392;19240061;19197249;19116240;18992638;18725155;18665078;18505908;18499961;18490834;18483327;18437511;18368131;18307388;18191841;18004979;17615053;17594537;17575134;17507624;17178901;17110639;17065579;16798289;16764871;16409859;16391898;16344560;16195240;16172228;16116976;16103457;15927889;15793791;15613430;15471945;15489334;15231748;15159300;15128046;15126571;15054879;14702039;14644808;12530676;12530663;12517592;12477932;12385014;12242026;12145340;12137805;12101186;11997174;11864972;11701663;11535251;11238527;11137199;11062177;11008920;10856721;10644752;10416690;10411633;10391209;9685215;9498238;9147642;9029710;8372604;8125298;3038854;3024157;2419119;1917982;1863359;1849407;22877869;1429635;20634197;15323426;15583024;19064571;19342447;19453261;19543524;19574343;19598235;19846611;20199803;20200332;20214802;20381444;20450755;23337730;20734064;20877624;20066577;21164259;21391350;21195129;21159840;23330251;21771722;21557918;21636783;21880796;23158025;22585829;22673022;22199361;22227097;22699877 1583 C9JPU9;C9JUP1;C9JXV4;E7EPP8;F5H102;H3BS93;H3BSZ1;P05108 ABBA01060486;ABBA01060487;ABBA01060488;AC090826;AI149078;AK056794;AK225715;AK292300;AK292301;AK293204;AK293211;AK300178;AK310362;AMYH01006792;AY603498;BC032329;BX398579;CH471136;DA010417;DQ358147;M14565;M28253;NG_007973;NM_000781;NM_001099773;X05367;X14257 AAA36404;AAA52162;AAH32329;ABC86898;ABM82504;ABM85697;BAF84989;BAF84990;BAG51810;BAG56744;BAG56751;BAG61957;CAA28965;CAA32471;EAW99341;EAW99342;NP_000772;NP_001093243;P05108 Hs.303980 1732461;1790331;1794606;2148835;2160881;2164343;2177587;2177816;2217234 CYP11A1_2780;CYP1A1;D15S1235;D15S1319;D15S520;PMC327197P2;SHGC-56724;STS-M14565;STS-R66092 CYP11A;CYPXIA1;P450SCC CYPXIA1;OTTHUMP00000198332;OTTHUMP00000198333;OTTHUMP00000198335;cholesterol 20-22 desmolase;cholesterol desmolase;cholesterol monooxygenase (side-chain cleaving);cholesterol monooxygenase (side-chain-cleaving);cholesterol side-chain cleavage enzyme, mitochondrial;cytochrome P450 11A1;cytochrome P450(scc);cytochrome P450, subfamily XIA (cholesterol side chain cleavage);cytochrome P450C11A1;cytochrome p450, subfamily 11a;steroid 20-22-lyase APPROVED protein-coding ENSG00000140459 2590 00326 118485 REVIEWED 1606587 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis, three successive hydroxylations of the A ring of androgens. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. The gene expresses two transcript variants. [provided by RefSeq, Jul 2008] 15 15 q21.1 49288961 49418086 - 51500254 51630795 - 1625350;2301045;2301046;4889108;2325883;4890368;1600860;4890041;4761326;4890381;4890359;4889549;4890445;5130880;6480464;6907045;7240710 17002564;18497059;16875543;18180323;18821018;20149258;17118999;21114983;19228890;20018485;20428845;15583024;20662593;18695261 7690033;3964273;3653507;3390233;3018730;2973313;2808431;2691883;2541021;2171939;2040633;1825497;1724289;1371509;15319333;15688015;2848247;11256614;19639193;19630952;19604497;19598235;19591804;19574343;19555469;19551860;19549443;19527514;19514368;19505920;19500729;19491387;19478482;19470632;19469636;19453261;19445691;19419293;19415745;19366906;19340622;19324338;19299445;19282383;19240151;19194457;19185610;19174490;19172223;19159688;19158807;19152063;19137777;19129847;19124506;19124504;19116238;19107851;19093296;19064581;19064572;19064562;19022561;19019335;19015200;18980759;18962445;18941913;18822378;18820009;18818748;18817841;12517592;12489562;12477932;12466340;12462077;12462076;12451990;12428207;12385014;12370109;12351690;12213901;12204674;12164325;12161505;12161013;12160997;12154211;12053085;12036913;11997208;11935306;11927588;11925378;11904449;11903314;11897504;11850235;11850233;11850230;11850225;11850224;11850222;11850221;11850220;11850219;11850210;11850209;11850208;11850206;11850205;11850203;11826265;11756225;11595700;11571725;11469726;11344237;11232039;11216915;11181459;11140838;11076863;10837748;10566648;9696881;9211678;9177373;8530621;8477708;8265607;8117272;8090165;16793950;16782804;16767510;16741831;16739881;16733710;16730930;16723309;16691199;16684355;16648498;16641167;16634644;16621515;16608396;16604491;16595205;16566930;16556483;16541304;16498364;16498363;16498361;16498360;16473000;16467490;16426763;16424004;16418790;16406421;16402077;16395678;16392624;16381901;16344016;16322405;16306085;16303757;16302261;16287071;16269961;16260521;16251760;16251630;16244490;16232327;16213843;16202920;16199862;16146740;16128984;16103457;16086586;16045239;16039845;16024248;16020944;16019206;15955695;15862962;15862961;15862960;15802318;18767927;18676680;18667686;18636124;18629629;18622258;18617186;18614591;18614276;18601603;18595017;18593984;18568448;18559914;18512790;18510611;18505907;18501301;18491956;18483761;18483177;18467089;18445666;18437511;18426832;18305346;18299793;18281655;18274619;18245543;18201819;18199708;18182446;18181018;18163429;18159088;18157729;18086758;18083712;18049890;18048499;18030614;17989068;17989043;17979523;17975727;17962916;17953943;17893373;17827443;17766065;17704407;17687621;17682677;17681675;17678915;17662285;17661084;17657731;17646720;17615053;17595315;17589376;17588204;17584767;17574328;17562079;17517397;17507624;17507620;17482958;17415442;17405842;17404019;17400043;17391072;17372263;17359589;17336977;17331471;17325027;17219197;17216495;17187946;17176215;17167982;17158756;17119036;17066438;17065579;17004113;16997132;16977255;16964243;16949391;16949385;16930994;16896040;16895991;16894362;16882736;16850246;16798289;15800924;15794932;15788666;15774541;15748828;15695318;15677755;15668497;15640252;15613678;15582747;15489336;15449726;15364411;15358790;15330195;15298966;15241822;15229337;15207764;15199113;15183689;15181061;15177662;15132727;15128046;15126575;15083381;15083380;15083377;15083376;15079018;15074077;15072828;15072827;15046111;14990865;14981949;14973387;14747179;14744739;14715870;14714492;14634838;14631363;14602139;14593077;14580722;14517714;14508827;12944421;12917334;12914527;12864794;12846271;12843146;12839940;12788892;12768436;12759877;12736278;12734209;12720534;12705475;12690088;12639945;12620480;12618873;12606587;12602902;12592380;21170323;21188138;22315456;22300440;22384274;22448795;22578533;22731640;22426781;22160249;22492871;19913121;20586553;20588246;20588308;20628086;20628746;20634197;20688833;20797716;20819792;20351196;15840311;18930188;18941892;19083124;19170196;19389254;19438456;19493871;19556341;19558171;19573564;19589174;19625176;19692168;19776291;19782135;19789370;19800002;19800101;19805543;19808095;19815003;19818337;19879925;19883757;19896534;19906814;19921206;19933466;19952760;19956635;19969081;20004389;20015405;20026603;20030115;20048079;20052540;20053928;20072949;20133979;20144226;20148360;20164038;20164294;20173016;20184498;20189936;20193327;20200332;20214802;20231365;20305046;20346360;20381444;20385561;20417295;20432167;20453000;20505544;20546829;20655525;20064870;18847535;18955734;19906189;20060879;20668023;20430378;20186154;20211687;20140262;20300828;20716560;20729390;20734064;20881004;20932310;20937744;20960227;21319995;21125383;21154336;20539301;21356374;21296134;20526739;22982181;16344560;21217768;21282199;21414724;21269619;21479914;21622727;21771722;21320735;21377485;21392518;21392519;21392520;23122578;23700878;22217837;19570444;21198743;21300759;21676395;21757507;22511967;21319151;21807013;22079757;22089263;22407818;22508516;23001776;21511357;21939764;22106445;22633539;22634420;23116507;21948762;21972004;22185650;22130322;22335023;22675492;21952832;22057025;22104650;22119029;22237979;22331461;22320986;23110082;20881960;22843875;22848710;23342035;22915343;22638611;23129173;23229009;23438603;22902617;23400010;23456168;23085504;23253631;23350368;22773874;23239821;22759564;22889864;23029457 1588 A8K6W3;E7EPL6;E7EQ08;E9PGZ6;H0YK57;H0YKN1;H0YLP1;H0YLS2;H0YNJ7;P11511;Q05CU4;Q8IYG4;Q8IYJ7;Q8TCA4 ABBA01039085;ABBA01039086;ABBA01039087;AC012169;AC020891;AK291778;AMYH01006641;AMYH01006642;AY957953;BC020767;BC022896;BC035714;BC035959;BC056258;BC107785;BG621764;BQ024157;CH471082;D14473;DA853862;DQ118405;J04127;M18856;M22246;M28420;M30804;NG_007982;NM_000103;NM_031226;S85356;X13589;Y07508 AAA35556;AAA35557;AAA35728;AAA52132;AAA52141;AAB21520;AAH20767;AAH22896;AAH35714;AAH35959;AAH56258;AAI07786;AAX44046;AAZ23558;BAF84467;CAA31929;CAA68807;CAL37411;CAL38062;EAW77413;EAW77414;EAW77415;EAW77416;NP_000094;NP_112503;P11511 Hs.260074 1646305;1652501;1657853;1661634;1668478;1676578;1677090;1684218;1688961;1712248;1716227;1726591;1742871;1754033;1757101;1761287;1767311;1771737;1778412;1780346;1780348;1780350;1780352;1780354;1780356;1780358;1780360;1780362;1780364;1780366;1780368;1780370;1787960;1853145;1857218;1857923;2119213;2119215;2123527;2127688;2132378;2139348;2151533;2156862;2185121;5492117;7185345 A004G01;CYP19-3;D15S1206;D15S1265;D18S1229;G54032;G62528;G67126;G67127;G67128;G67129;G67130;G67131;G67132;G67133;G67134;G67135;G67136;G67137;G67138;G67172;GDB:212661;L77297;RH121140;RH15683;RH17833;RH17900;RH44625;RH48681;RH68609;RH69825;RH77814;RH77832;RH92302;RH93865;RH98549;SGC35215;SHGC-132074;SHGC-144488;SHGC-145291;SHGC-34077;SHGC-34187;STS-T49215;STS-T97650;WI-11891;WI-2834 ARO;ARO1;CPV1;CYAR;CYP19;CYPXIX;MGC104309;P-450AROM CYPXIX;OTTHUMP00000162543;OTTHUMP00000198350;aromatase;cytochrome P-450AROM;cytochrome P450 19A1;cytochrome P450, subfamily XIX (aromatization of androgens);estrogen synthase;estrogen synthetase;flavoprotein-linked monooxygenase;microsomal monooxygenase 2289561 BW440_H APPROVED protein-coding ENSG00000137869 2594 00488 107910;139300;613546 REVIEWED 5144332 CYP1D1P cytochrome P450, family 1, subfamily D, polypeptide 1, pseudogene 9 9 9 q21.13 46230429 46244122 + 74847373 74861264 + 75657553 75671513 + 20495808 100133307 ABBA01033867;AL359997;AMYH01021409;NG_023158 1706838;1764265 SHGC-147885;SHGC-80901 CYP1A8P;CYP1D1 pseudo 39968 INFERRED 1347734 CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene 6 6 p21.3 32080697 32084739 + 31973413 31976686 + 19201236;18039588;17666484;17275379;15941926;15793784;15036125;14502362;12121677;3487786;3486422;3038528;2845408;12107411;14574404;15028279;19135723;19505723;19624807;20970527;21324303 1590 AL645922;AL929593;AMYH01016225;BQ637676;BX679671;CD014134;CR753845;M12793;M13935;M26857;NR_040090;XR_171119 Hs.654479 1678425;1797462;2106223;2137309;2157927 CYP21A2_2362;G29213;N3_3_2;RH11436;WI-7720 CYP21A;CYP21P;P450c21A pseudo ENSG00000204338 2599 VALIDATED 1350540 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008] 10 10 q24.3 104580278 104587280 - 104590288 104597290 - 1580863;1625350;2317618;2317619;4888511;4889112;4889142;4889141;2325883;4846627;4892309;6480464;6907045;7240710 17002564;19642097;16381022;11739466;17720801;12631398;2026124;18821018;18645193;17926129 2808364;10406467;1347802;9326943;19627379;19598235;19574343;19505920;19469636;19453261;19443382;19430483;19430479;19415745;19387820;19379515;19336370;19330259;19267349;19174490;19127255;19064581;19064572;19023099;19015200;19013303;18980759;18957719;18930188;18820009;18781485;18767927;18725155;18722876;18707589;18682255;18676680;18645709;18636181;18636124;18629629;18619494;18618215;18601603;18593984;18560445;18510611;18505908;18503826;18501301;18499961;18496127;18495332;18491956;18483327;18437511;18422032;18415690;18411914;18318428;18305346;18299473;18281250;18262808;18187541;18184656;18172694;18163429;18006912;18000308;17986287;17975119;17961073;17895316;17875358;17826473;17786540;17785571;17765230;17760252;17704407;17669147;17664281;17615053;17606708;17589376;17588204;17507624;17484509;17386955;17359589;17328668;17307805;17235448;17218734;17167982;17119038;17110639;17108148;17077994;16977255;16971197;16969494;16909599;16896040;16890174;16887917;16885156;16875543;16859836;16850246;16783967;16782804;16739881;16730930;16720291;16716118;16707883;16702327;16638864;16616104;16608396;16604478;16603433;16595705;16595228;16527884;16519145;16515644;16424004;16411751;16354159;16344560;16319265;16306078;16280037;16260521;16244490;16232327;16214922;16202920;16045239;15999490;15987458;15987450;15953542;15941966;15927351;15916684;15886251;15878919;15865082;15824149;15823822;15799583;15774541;15761247;15749482;15711606;15706422;15687493;15686129;15663233;15654505;15609124;15604994;15598676;15591802;15555906;15539439;15538743;15536258;15489334;15482786;15477877;15466495;15382051;15372520;15364798;15341023;15241822;15235815;15199113;15195127;15164054;15129369;15128046;15072828;14995917;14985252;14744739;14715870;14714492;12584742;12582021;12574216;12530676;12530662;12530647;12530262;12517592;12506119;12477932;12466376;12464252;12446594;12444089;12385014;12370109;12368392;12164325;12036914;12036913;11956159;11925378;11911969;11897684;11895872;11888844;11880540;11867265;11847524;11839369;11836339;11834432;11749050;11668516;11571725;11549685;11535545;11470993;11440959;11379008;11358812;11341336;11303586;11248649;11232039;11221867;11212283;11145739;11142420;11094312;11059764;11036113;10720067;9888582;9601054;9435441;9360545;9177409;8855840;8675607;14702039;14693733;14684846;14671162;14665706;14644808;14634838;14575568;14561815;14552333;14552332;14512432;14504283;12971967;12954495;12949806;12719950;12718576;12692107;12652520;12645864;12644832;12631293;12602902;22103881;22456087;8550762;8396144;8345056;8245018;8027220;7629254;6976525;3500022;3488328;3274893;3025870;2843762;2786493;2466376;2335573;1964490;1740503;1714904;1665206;1621662;1577471;1515452;1478654;22238371;21338212;21511288;20207836;20534731;20628086;20628746;19913121;20634197;20650774;20677014;20728566;20729792;20798986;15583024;16385451;19170196;19454579;19625176;19636199;19672705;19692168;19789190;19805543;19850690;19863350;19915575;19954068;19956635;20013047;20033766;20043206;20043997;20069306;20072949;20086173;20099974;20113968;20133979;20171624;20173016;20184498;20193327;20197673;20200332;20214802;20379614;20381444;20414254;20432167;20453000;20479155;20503394;19508587;20595043;20886547;20716560;20729390;20734064;20852445;20884100;21045733;20720262;21378990;20539301;21656827;21572416;20619364;23036723;22309630;23129512;22954317;23229009;21307141;22653668;21420394;22066265;23133444;21300759;21644229;21848792;21193363;21676446;21868758;21896988;22048715;21094112;21966534;22001566;22419734;21948762;22072737;22266943;21909110;21909115;21919858;21963141;22057025;22071413;22174412;22217842;22237020;22331461;22434081;23015357;22959498;21988832;23291414;22951291;23350368;22873692;22528335 1586 P05093;Q1HB44 ABBA01063132;AI492406;AK094106;AK289898;AK308466;AK312235;AL358790;AMYH01003020;BC032843;BC062997;BC063388;BT020000;CH471066;DA013587;DA016804;DQ530598;EU332845;M14564;M19489;M31153;M63871;NG_007955;NM_000102 AAA36405;AAA52140;AAA52151;AAA59984;AAH62997;AAH63388;AAV38803;ABF50972;ABY87534;BAF82587;BAG35168;EAW49672;NP_000093;P05093 Hs.438016 1688332;1742227;1776279;2190823;2217236 CYP17;CYP17A1_2934;GDB:193859;RH17665;RH80310 CPT7;CYP17;P450C17;S17AH 17-alpha-hydroxyprogesterone aldolase;CYPXVII;OTTHUMP00000020382;cytochrome P450 17A1;cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia;cytochrome P450-C17;cytochrome P450c17;cytochrome p450 XVIIA1;steroid 17-alpha-hydroxylase/17,20 lyase;steroid 17-alpha-monooxygenase APPROVED protein-coding ENSG00000148795 2593 01944 202110;609300 REVIEWED 1602821 CYP1B1-AS1 CYP1B1 antisense RNA 1 2 2 2 p22.2 38199069 38249826 + 38261193 38261621 + 38358247 38408997 + 12477932 285154 ABBA01074990;AC009229;AMYH01010264;BC031410;CH471053;NR_027252 AAY15040;EAX00378;EAX00379;EAX00380 Hs.353894 2184472 D2S2726 C2orf58;MGC34824 hypothetical protein mgc34824 APPROVED miscrna ENSG00000232973 28543 14592 PREDICTED 731375 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 10 10 q23-q24 94823222 94827631 + 94833232 94837641 + 737785;1580863;6480464;6484694;6484672;6907045 11953746;19700416;21621639 9228017;10823918;14532297;18992717;18059332;17460545;17218384;17059167;16933217;16778795;16463413;16194896;16053444;15281009;15128046;14702039;12727970;10976925;10874126;10583049;9826557;9716180;9521883;9228041;8601734;20693622;20682464;19519282;19553612;19703508;20167577;20375987;20513361;21521770;21850183;22020119;22179182;20686565;21975512;23396134 1592 O43174 ABBA01021882;AF005418;AK027560;AK075374;AL358613;AMYH01002955;CH471066;NG_008067;NM_000783;NM_057157 AAB88881;AAI56284;AAI57064;BAG51346;EAW50078;EAW50079;NP_000774;NP_476498;O43174 Hs.150595 1797464;2119472 CYP26A1_2009;RH44983 CP26;CYP26;P450RAI;P450RAI1 OTTHUMP00000020102;OTTHUMP00000020103;P450, retinoic acid-inactivating, 1;cytochrome P450 26A1;cytochrome P450 retinoic acid-inactivating 1;cytochrome P450, subfamily XXVIA, polypeptide 1;cytochrome P450RAI;cytochrome p450, 26, retinoic acid;hP450RAI;retinoic acid 4-hydroxylase;retinoic acid-metabolizing cytochrome APPROVED protein-coding ENSG00000095596 2603 03759 602239 REVIEWED 730870 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. [provided by RefSeq, Jul 2008] 15 15 q24.1 72798943 72804930 - 75011883 75017877 - 1581251;1581252;727674;1300048;1580863;2301040;2301045;2306675;2307073;2307074;2307076;2317212;2317211;2317210;4892071;4293707;4892073;4889126;4892074;4142512;4892075;4892072;4145530;4892045;5147678;5135235;5129544;2314952;5147674;5147675;5147744;5147746;5135288;5147681;5147745;4892242;5147671;5147677;5147680;5147672;5147676;5147679;5147747;5147670;6480464;6907045 14687717;12880680;12464257;18318428;18497059;12621079;11996959;10711628;8267628;18287863;18990008;19168589;18389617;20080081;15123765;14593914;12415424;15928955;16696009;15958656;20826654;19507017;11793160;18367723;12971802;19595018;18849443;18374908;16882535;15124938;19733976;8872868;15665729;20595028;19903800;12713578;10599336;19561157;16006567;11484167;12590982;21374063 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1543 A0N0X8;A4F3V8;A4F3V9;A4F3W0;E7EMT5;P04798 ABBA01060499;AC091230;AF040259;AF253322;AK223108;AK223113;AK310810;AK313880;AM233517;AM233518;AM233519;AM233520;AM236046;AM236047;AMYH01006794;AY310359;AY871801;BC023019;CH471136;D10855;EF094025;K03191;M12079;NG_008431;NM_000499;X02612;X04300 AAA52139;AAA52152;AAD10199;AAH23019;AAK25727;AAQ76692;AAX62803;ABK41999;ABM82441;ABM85632;BAD96828;BAD96833;BAG36606;CAA26458;CAA27843;CAJ80720;CAJ80721;CAJ80722;CAJ80723;CAJ84703;CAJ84704;EAW99314;EAW99315;NP_000490;P04798 Hs.72912 1795662;2135898;2143438;2216950 CYP1A1_14;SHGC-6128;STS-K03191;UniSTS:461912 AHH;AHRR;CP11;CYP1;P1-450;P450-C;P450DX CYPIA1;OTTHUMP00000183469;aryl hydrocarbon hydroxylase;cytochrome P1-450, dioxin-inducible;cytochrome P450 1A1;cytochrome P450 form 6;cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1;cytochrome P450-C;cytochrome P450-P1;flavoprotein-linked monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000140465 2595 00148 108330 REVIEWED 735711 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008] 15 15 q24.1 72828237 72835994 + 75041184 75048941 + 1358545;727649;1300048;1580863;2301045;2303375;2303376;4293707;5129544;5147745;6480464;4892242;6907361;6907045;7240710 10889552;2985574;18497059;18442205;18360687;20080081;12971802;15665729;20595028;22170007 2813353;8553685;19643819;19605743;19593168;19593158;19583676;19576320;19575027;19574343;19507017;19479063;19453261;19430483;19424794;19415745;19414633;19356113;19343046;19339270;19338043;19336370;19332078;19307236;19290787;19285097;19276377;19274061;19273964;19229255;19106084;19095219;19026171;19000940;18996102;18992148;18990750;18941913;18936436;18850169;18840375;18825963;18813311;18801337;18798002;18784359;18759349;18751408;18703023;18690546;18632753;18628519;18619574;18569587;18551037;18544563;18510611;18499698;18496682;18493746;18490497;18466106;18455494;18398030;18389617;18318428;18268115;18231117;18223460;18200441;18187423;18180754;18159984;18077912;18075470;18052847;17900275;17852022;17823234;17823232;17695473;17688403;17635176;17627011;17616786;17615053;17611010;17603900;17603224;17564586;17509724;17507624;17507615;17503978;17498780;17477782;17429315;17418993;17372239;17370067;17363580;17345072;17295924;17259654;17191090;17178267;17164366;17065585;16985250;16985026;16969362;16933202;16882880;16864595;16800822;16782969;16775389;16772608;16740387;16636061;16609368;16538176;16538170;16522833;16505155;16495781;16471212;16426572;16406813;16402549;16402077;16385402;16307269;16204462;16188490;16172230;16157215;16153396;16130011;16103451;16048566;16006997;15996939;15987714;15949157;15941966;15901993;15890241;15849225;15774926;15770072;15763632;15734958;15643613;15564895;15519301;15505641;15489334;15469410;15466009;15387446;15382051;15363478;15349722;15299091;15241822;15128046;15110095;14976127;14723376;14714565;14695651;14648207;14640293;14563787;12943470;12925300;12920202;12900870;12851801;12790158;12732846;12692107;12663508;12630986;12618594;12569554;12566081;12534642;12484238;12477932;12445029;12419832;12181774;12147246;12067576;11943609;11817502;11791895;11782366;11763009;11749050;11507974;11501059;11496364;11470995;11393588;11275366;11207026;11186132;11153915;10791558;10493258;10463577;9890157;9884316;9797707;9598815;8694864;8573198;8287062;3755823;3681487;3517618;3462722;3000715;2575218;9398194;8095225;15319333;15039299;12445035;20583967;21148426;21357676;21490707;20529763;20559687;20602612;19913121;20602615;20628086;20634197;20634891;20641098;20652353;20797314;16324277;19961320;11511187;15327587;15680923;16401082;17311915;18356043;19029318;19219744;19450128;19451835;19452301;19534587;19569730;19571439;19636338;19651758;19666078;19682433;19692168;19751749;19776291;19789190;19806921;19822571;19823875;19843669;19860743;19926050;19956635;20029944;20047124;20054636;20118554;20131310;20136364;20147896;20163457;20173083;20175915;20213484;20214802;20218903;20304699;20375710;20381444;20389299;20390257;20403997;20437850;20453000;20505544;20125119;20043572;20853468;20691427;20701904;20734064;20930417;20957336;20970553;21071160;21072184;21081473;21086794;20806393;20663043;20829355;20881513;20933493;21262253;19442564;20656072;22492992;21598960;21210738;22949628;23628800;21329464;21825116;22246422;22466345;21505853;22072123;21480221;23138776;22086975;22141270;22258279;22426036;22648710;22749033;22855999;21929532;21977969;22448362;21281405;21876539;22336631;23133610;22854411;22628494;23292087;23603339;23353840;22228482;22948892 1544 P05177;Q6NWU3 ABBA01060501;AC091230;AF182274;AF253322;AMYH01006794;BC067424;BC067425;BC067426;BC067427;BC067428;BC067429;CH471136;DQ022432;L00389;M12078;M31664;M31667;M55053;NG_008431;NM_000761;Z00036 AAA35738;AAA52146;AAA52154;AAA52163;AAF13599;AAH67424;AAH67425;AAH67426;AAH67427;AAH67428;AAH67429;AAK25728;AAY26399;CAA77335;EAW99313;NP_000752;P05177 Hs.1361 1777400;1850873;2115873;5016596;5024756;5037552 D8S2279;G10504;GDB:631802;RH80030;SGC35304;STS-M31667 CP12;P3-450;P450(PA) CYPIA2;P450 form 4;aryl hydrocarbon hydroxylase;cytochrome P(3)450;cytochrome P450 1A2;cytochrome P450 4;cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2;cytochrome P450-P3;cytochrome p450, 1a2;dioxin-inducible P3-450;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000140505 2596 00489 124060 REVIEWED 1606532 CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008] 2 2 2 q33.2 197856120 197924954 + 203811409 203878808 + 204103164 204170563 + 6480464 15191668;15128046;14702039;12975309;12477932;11178272;9890157;20966902;19898482;21832049 57404 C9J8K7;E9PHG5;F2Z3K6;F8WBE2;Q6UW02 ABBA01062602;ABBA01062603;ABBA01062604;ABBA01062605;ABBA01062606;ABBA01062607;ABBA01062608;ABBA01062609;AC011737;AC080075;AF183412;AF289579;AK021770;AK297082;AK307931;AL832998;AMYH01011416;AY359068;BC020616;BC033752;BC093022;BM141805;BM142090;BM998900;CH471063;NG_007956;NM_177538 AAG09681;AAH20616;AAH33752;AAH93022;AAL55763;AAQ89427;AAX88915;AAY14934;ABM81844;ABM84994;ABM84995;BAG59599;CAH56305;EAW70332;EAW70333;EAW70334;NP_803882;Q6UW02 Hs.446065;Hs.707756 1728841;1728849;1767066;1776690;2107987;2159784;5015404;5015619;5015861;5015959;5016352;5016478;5016596;5020494;5020740;5020881;5021396;5021431;5022200;5022322;5022450;5022578;5022651;5024039;5037552;5109281;5118576;7185938 CYP20A1_2976;D10S16;D10S2448;D10S275;D11S2560;D11S2921;D11S3114;D11S3430;D16S325;D1S1423;D1S1425;D8S2279;G54497;G54498;GDB:313783;GDB:434012;GDB:631802;L17702;L17705;L17709;L17809;L18062;L18426;L30021;RH65777;RH69647;STS-AA004596 CYP-M;MGC22229 OTTHUMP00000163753;OTTHUMP00000206148;OTTHUMP00000206151;cytochrome P450 20A1;cytochrome P450 monooxygenase APPROVED protein-coding 20576 07100 REVIEWED 1318849 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008] 10 10 10 q23.33 88562228 88569661 + 94811011 94818444 + 94821021 94828454 + 6480464;6484672;6907045 21621639 16933217;14532297;15164054;15128046;16385451;19703508;21850183;21139048;23161670 340665 Q6V0L0;Q6ZNJ6 ABBA01021882;AK127234;AK131099;AL358613;AMYH01002955;AY356349;CH471066;NG_007958;NM_183374 AAQ55485;BAC85149;EAW50080;EAW50081;NP_899230;Q6V0L0 Hs.369993 2218454;5022578 CYP26C1_4664;D1S1423 FFDD4;FLJ45301 OTTHUMP00000020104;cytochrome P450 26C1 APPROVED protein-coding ENSG00000187553 20577 12230 608428;614974 REVIEWED 1353365 CYP2A cytochrome P450, family 2, subfamily A 6480464;7240710 15128046 1546 NG_000008 1299912;1338341;1660631;1669248;1684770;1688302;1739527;1754461;1787476;2118954;2125826;2130247;2136595;2144540;2151245;2153014;2153366;2162485 D14S935;D19S1055;D19S1089;D19S1167;D19S223;D19S400;D19S815;D19S986;D19S993;D2S2863;DXS7515;RH11435;RH11626;RH80275;RH80817;SHGC-132734;SHGC-172860;SHGC-32170 2607 122700;188890;211980 1346271 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 p21.3 32114061 32117398 + 32006093 32009447 + 1580863;4889127;4889549;6480464;6907045;7240710 12930931;15583024 15493145;15342556;15128046;15126570;15110320;15027205;15004406;14733808;14715874;14702039;14676461;14676460;14671153;14514162;14502362;12966197;12915679;12887291;12876419;12855227;12788889;12788880;12788866;12746407;12477932;12464252;12384784;12370110;12222711;12220458;12213891;12213672;12121677;12050257;12050231;12038604;12028996;11836313;11746135;11739456;11692155;15572419;19624807;19598235;19531083;19505723;19501079;19453261;19449670;19272182;19226270;19208730;19201236;19158234;19137635;19135723;19116923;19085698;19062540;19058224;19039234;18973462;18825878;18787377;18702679;18636124;18589890;18505908;18478071;18445671;18397975;18392095;18381579;18319307;18204270;18179706;18042312;18039588;18028896;17878254;17803691;17666484;17551464;17526939;17505149;17466088;17119906;17047018;17033937;16984992;16788163;16728546;16712666;16648810;16541276;16500637;16487445;16427797;16344560;16238926;16046588;15988383;15858147;15830218;15818055;15793784;15775714;15761541;15751603;15705377;15627780;15608154;15598692;17275379;11600539;11598371;11581476;11457572;11287026;11232002;11093272;11073721;10720040;10496074;10443693;10408786;10408778;10391209;10364682;10343159;10229037;10207042;10198222;10094562;10072631;10051010;9661649;9580109;9497336;9215318;9187661;9099896;9067760;8989258;8968761;8731325;8675607;8518786;8485582;8478006;8372604;8175971;8081391;7749410;7635470;7629224;7096533;5804199;3871526;3500473;3487786;3486422;3260033;3260007;3257825;3137812;3038528;21198393;2827462;2788081;2325662;2303461;2249999;2072928;1985465;1937474;1864962;1644925;1496017;1406709;1406699;1351548;2845408;20132843;21117955;20587039;20587610;20661889;20685352;19347184;19420818;19423540;19773403;19799922;19844122;19890026;19925038;19930153;20029944;20059433;20070950;20080860;20110635;20201644;20233785;20406964;20438785;20423741;20617557;19856253;20818501;15028279;1605859;3267225;3497399;21175091;21134444;20838032;20926536;21164261;21164262;23342490;23155693;20970527;21264314;21446712;17573904;21646284;23142378;21534945;22020670;22308849;21570420;21274396;21912141;22001566;21609351;22217838;21169732;21521936;22014889;20671415;22127631;20301350;22017335;22497080;23211577;23359706;22561756;23044877;23073904;22886582;21750395;22802425;22873692;22313422;22841790;22885098;23329749 1589 A2BHY7;E7EN87;E7ERT7;E7EVC0;F8WBR4;Q08AG9;Q16874;Q96NU8 ABBA01038102;AF019413;AF077974;AK054616;AK314651;AL049547;AL645922;AL662828;AL662849;AM086564;AM086565;AM183945;AM183946;AM183947;AM183948;AM183949;AM183950;AM183951;AMYH01016230;AV708092;BC125181;BC125182;BC128535;BP198315;BX679671;CD013985;CD013987;CH471081;CR753845;CR936924;DA008890;DA014348;DB295152;GQ222275;GQ222276;GQ222277;GQ222278;GQ222279;GQ222280;GQ222281;GQ222282;GQ222283;GQ222285;GQ222287;GQ222289;GQ222290;GQ222291;GQ222292;GQ222293;GQ222295;GQ222297;GQ222298;GQ222299;GQ222300;GQ222302;GQ222303;GQ222304;GQ222305;K02771;M12792;M13936;M17252;M19711;M21550;M26856;M28548;NG_007941;NM_000500;NM_001128590;S60612;X58898;X58899;X58900;X58902;X58904;X58906;X58907 AAA52063;AAA52064;AAA52065;AAA59695;AAA59706;AAA59985;AAA83248;AAB59440;AAB67982;AAD13914;AAD45405;AAI25182;AAI25183;AAI28536;ACT35401;ACT35402;ACT35403;ACT35404;ACT35405;ACT35406;ACT35407;ACT35408;ACT35409;ACT35411;ACT35413;ACT35415;ACT35416;ACT35417;ACT35418;ACT35419;ACT35421;ACT35423;ACT35424;ACT35425;ACT35426;ACT35428;ACT35429;ACT35430;ACT35431;BAB70774;BAG37212;CAA41702;CAA41703;CAA41704;CAA41706;CAA41707;CAA41709;CAA41710;CAB89301;CAJ31103;CAJ31104;CAJ75799;CAJ75800;CAJ75801;CAJ75802;CAJ75803;CAJ75804;CAJ75805;EAX03570;EAX03571;NP_000491;NP_001122062;P08686 Hs.654479 1678425;1797462;2106223;2137309 CYP21A2_2362;N3_3_2;RH11436;WI-7720 CA21H;CAH1;CPS1;CYP21;CYP21B;MGC150536;MGC150537;P450c21B 21-OHase;21-hydroxylase;OTTHUMP00000029083;OTTHUMP00000174778;cytochrome P-450c21;cytochrome P450 21;cytochrome P450 XXI;cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2;cytochrome P450-C21;cytochrome P450-C21B;steroid 21-hydroxylase;steroid 21-monooxygenase APPROVED protein-coding ENSG00000231852 2600 01942 201910;613815 REVIEWED 1606586 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13 52203395 52223931 - 52769988 52790516 - 6480464 8506296;17023519;7632726;16720713;19505920;19453261;19393625;19343046;19255064;19237542;19097033;18843020;18824104;18676680;18467787;17932346;17875655;17646648;17606874;17585873;17475215;17368180;17254772;17244366;17223345;17079137;16708384;16691293;16617161;16600026;16516540;16457885;15919092;15788398;21169243;21675912;15630458;15358094;15146197;15128046;15078099;22511602;22648713;14760115;14665637;12855575;12641633;12485911;12477932;11780052;11149490;10218951;8440135;8266831;7938037;7829101;7595086;21441443;19913121;20460683;20628086;20654748;20687218;20587525;17426122;19170196;19454612;19625176;19667160;19692168;19706847;19852851;19891555;19901270;19922790;20007432;20394945;20453000;20541252;20809279;20847308;20877624;20591973;20304053;20304056;20304059;20398751;20831823;15583024;15951480;20450955;21697097;21385079;22285938;21906983;22213328;21725204;21828234;21440908;21833088;22612324;23169318;22649517;20467438;23393347;22984610;23155244;22690899;22871965;23435876;23042114;23423976 1591 Q07973;Q5I2W7 ABBA01052870;AI400154;AL138805;AMYH01011996;AW022349;AY858838;BC109083;BC109084;BI491491;BM928702;BU662901;CH471077;CN311231;L13286;N29030;NG_008334;NM_000782;NM_001128915;S67623;U60669 AAA62379;AAB03776;AAB29308;AAI09084;AAI09085;AAW50795;EAW75573;NP_000773;NP_001122387;Q07973 Hs.89663 1660050;2109209;2133325;5014742 CYP24A1_4663;G10652;STS-N34457;WI-9227 CP24;CYP24;HCAI;MGC126273;MGC126274;P450-CC24 1,25-@dihydroxyvitamin D3 24-hydroxylase;1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial;24-OHase;OTTHUMP00000031314;OTTHUMP00000165939;OTTHUMP00000165940;cytochrome P450 24A1;cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase);cytochrome P450-CC24;exo-mitochondrial protein;vitamin D 24-hydroxylase;vitamin D(3) 24-hydroxylase APPROVED protein-coding ENSG00000019186 2602 00522 126065;143880 REVIEWED 736765 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008] 2 2 p22.2 38148250 38156796 - 38294746 38303323 - 1599716;728267;1300048;1580863;6480464;6907045;7240710 9097971;7744798 17353931;19643970;19630952;19598235;19582785;19575027;19574343;19536304;19528825;19514368;19505920;19479063;19453261;19443378;19424794;19424633;19415745;19414505;18227148;18187806;18070520;18067928;18059014;18055790;17980933;17925548;17922187;17919675;17914928;17893647;17718864;17704407;17687619;17642299;17627011;17615053;17603900;17591938;17589376;17588204;17575219;17563717;17562158;17548691;17507624;17507616;17498780;17496311;17458695;17449559;17449539;17429315;17403528;17372243;17372239;17363580;17321191;17311112;17301257;17224914;17224759;17220347;17200336;17187946;19383894;19357154;19349377;19343046;19338043;19331196;19324859;19293312;19290787;19287966;19274671;19247456;19234632;19229255;19214745;19208203;19199255;19195637;19179758;19174490;19138996;19138946;19127255;19126602;19116217;19096718;19094228;19074885;19064581;19031960;19015200;18992148;18990750;18989382;18980759;18977467;18936436;18922394;18852424;18841557;18829176;18820009;18794456;18784359;18779756;18763031;18676680;18632753;18628428;18622259;18616618;18575334;18573508;18569591;18569579;18544568;18537981;18510611;18497059;18486761;18483560;18470941;18425393;18415014;18414103;18385784;18347981;18318428;18268125;18258609;17164573;17157584;17077994;17063266;17053044;17035385;16985250;16985026;16978616;16977255;16963504;16949388;16896040;16864595;16862072;16850246;16847423;16808847;16766147;16735994;16735991;16730930;16716118;16688110;16638984;16598069;16569655;16490498;16384942;16344560;16319821;16319265;16284375;16260521;16207128;16202920;16172230;16172228;16115918;16103451;16051642;16006997;15987428;15958554;15941966;15905203;15896461;15861043;15808404;15777990;15774541;15734958;15734954;15733270;15723004;15654505;15636228;15596250;15489334;15475877;15386537;15382051;15342693;15342556;15342454;15333708;15299091;15297370;15285606;15255550;15255109;15199113;15177664;15128046;15122594;15102677;15075793;15072827;15041720;14961553;14744739;14734460;14729846;14656940;14634838;14562027;14520706;17174438;14507861;12873984;12844487;12837283;12807732;12770747;12718576;12692107;12618873;12602902;12598442;12567107;12525557;12520071;12477932;12419832;12415427;12385014;12372064;12200121;12183407;12010864;11955671;11854439;11774072;11749050;11558822;11452143;11403040;11389067;11303589;11221602;10614688;10227395;9890157;9823305;9497261;9463332;8910454;8175734;22509109;22190224;1925598;22296381;22594779;21683070;22374940;21596299;19913121;20529763;20559649;20568895;20628086;20632082;20634197;20634891;20660114;20678202;20683028;11555828;19083124;19170196;19597567;19622003;19625176;19666078;19668563;19668597;19690133;19692168;19730035;19736056;19744731;19751749;19754948;19776291;19789190;19789301;19793111;19820397;19822571;19857456;19860743;19895167;19898482;19956635;19963139;19995559;20027111;20029944;20033481;20037207;20054638;20057908;20088394;20131310;20151268;20198857;20198978;20212917;20214802;20357201;20375710;20391138;20395011;20403997;20453000;20461808;20492382;20505544;20184498;21191305;20664688;20462226;20734064;20830506;20845989;20878130;20884258;21072184;21081473;20051892;10871058;20701755;20137445;21139974;21168818;21081970;21147782;20887769;21303932;20875115;23350153;22878448;23028769;21614911;22504876;21600657;21306220;21438753;21655360;21742528;22114726;22128238;21850185;21409489;22466345;21707071;21890473;21987572;22177211;23218183;21854771;22232929;21674184;22011756;21963094;23218701;21458313;22004014;20301314;22138065;22272893;22942166;23353840;23350368;22327650;22459615;23087145;22840970;22859684 1545 Q16678;Q53TK1 ABBA01074989;AC009229;AF171066;AF450132;AK303862;AK312686;AMYH01010264;AY393998;BC012049;BP326939;BT019979;BT020001;CH471053;DA662236;DQ016495;DQ359216;NG_008386;NM_000104;U03688;U56438 AAA19567;AAC50809;AAG43404;AAH12049;AAM50512;AAQ87875;AAV38782;AAV38804;AAY34975;ABC95161;ADZ16030;BAG35566;BAG64801;EAX00382;EAX00383;NP_000095;Q16678 Hs.154654 1674666;1685073;1689656;1795664;1854350;2121337;2139150 CYP1B1_568;RH68906;RH69650;RH70529;RH91400;RH92415;SHGC-12924 CP1B;CYPIB1;GLC3A;P4501B1 CYPIB1;OTTHUMP00000126963;OTTHUMP00000201401;aryl hydrocarbon hydroxylase;cytochrome P450 1B1;cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile);cytochrome p450, subfamily 1b, polypeptide 1;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000138061 2597 03464 137750;137760;231300;601771;604229 REVIEWED 1352512 CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 q13.2 46286208 46293939 + 41594356 41602100 + 1580863;6480464;6907045 19414505;19343046;19303722;19290787;17428784;16835796;16316926;15618722;15333516;15222883;15128046;15115698;15063809;14633739;12920161;12721789;12130698;11016631;10353262;9890157;8587134;22315333;7668294;7581481;20431511;20568895;15196988;18669584;19789190;19812523;20534012;20798279;20846153;22696418;22798551;21473878;8889548;22890016;22397853;22700965 1553 Q16696 ABBA01040797;AC008962;AF209774;AMYH01009815;AY513604;AY513605;AY513606;AY513607;AY513608;AY513609;BM975825;CH471126;NG_007928;NM_000766;U22028 AAB40519;AAG35775;AAI48423;AAI53001;AAR90935;AAR90936;AAR90937;AAR90938;AAR90939;AAR90940;EAW57016;NP_000757;Q16696 Hs.567252 1684770 RH80817 CPAD;CYP2A;CYPIIA13 CYPIIA13;cytochrome P450 2A13;cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13 APPROVED protein-coding ENSG00000197838 2608 07454 608055 REVIEWED 1354364 CYP2A7P1 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 19 19 19 q13.2 38214259 38334163 - 46105976 46225830 - 41530169 41533989 - 6480464 11692077;8587134;7668294;15128046 1550 ABBA01040796;AC008537;AC011541;AC023172;AC092071;AMYH01009815;NG_029327;U22030;U22044 Hs.733030 1299912;1669248;1684770;1688302;1739527;2136595;2153366;2188919 D19S1089;D19S1167;D19S400;D19S815;G65975;RH11435;RH80275;RH80817 CYP2A18PC;CYP2A18PN;CYP2A7P2;CYP2A7PT pseudo 2612 INFERRED 5144728 CYP2AB1P cytochrome P450, family 2, subfamily AB, polypeptide 1, pseudogene 3 3 3 q27.1 182057029 182072064 - 185096382 185111418 - 183613688 183628724 - 647265 ABBA01058468;AC068644;AMYH01013709 pseudo 39975 MODEL 1350022 CYP2B cytochrome P450, family 2, subfamily B 1554 2614 614546 736189 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 2 2 p13.2 72209875 72228471 - 72356367 72374963 - 1580863;6480464;6771354;6484694;6484672;6907045 21138835;19700416;21621639 10823918;14532297;16933217;16574820;15815621;15489334;15128046;12477932;12101034;11744378;10545224;22666329;19703508;19884280;20375987;20606468;21482329;21641851;22020119;21945024;22019272;19953087;19322201;22899867;22965740;22985482;23298258;23303528;23409080;23554885;23587162;22415012 56603 E5RHM2;E5RHN4;E7ER08;Q9NP41 AA484668;ABBA01075562;AC007002;AF252297;AK294814;AK294933;AK295683;AK313433;AMYH01010432;AW873673;BC069443;BC109205;CH471053;CR749631;DC308258;FJ467289;NG_007957;NM_001277742;NM_019885 AAF76003;AAH69443;AAI09206;AAY14690;ACR19332;BAG36224;BAH11892;BAH11930;BAH12154;CAH18425;EAW99761;NP_001264671;NP_063938;Q9NR63 Hs.91546 2114824 SGC32318 CYP26A2;DKFZp686G0638;MGC129613;P450RAI-2;P450RAI2;RHFCA OTTHUMP00000160175;cytochrome P450 26A2;cytochrome P450 26B1;cytochrome P450 CYP26B1 variant 2;cytochrome P450 retinoic acid-inactivating 2;cytochrome P450 retinoid metabolizing protein;cytochrome P450, subfamily XXVIB, polypeptide 1;cytochrome P450RAI-2;retinoic acid-metabolizing cytochrome APPROVED protein-coding ENSG00000003137 20581 05550 605207;614416 REVIEWED 1605811 CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 121253198 121275097 - 127657882 127679813 - 127941412 127963343 - 15128046;12477932;20707712;21890473 339761 Q4G0S4 ABBA01040213;ABBA01040214;ABBA01040215;AC110926;AK131190;AMYH01011018;BC039307;CH471103;NG_007986;NM_001001665 AAH39307;BAD18388;EAW95308;EAW95309;EAW95310;NP_001001665;Q4G0S4 Hs.407639 5015404;5015881;5020946;5024413 GDB:335751;L17705;L17877;L17971 FLJ16008 OTTHUMP00000203833;OTTHUMP00000203834;cytochrome P450 27C1;cytochrome P450, family 27, subfamily C, polypeptide 13 APPROVED protein-coding ENSG00000186684 33480 13360 REVIEWED 6480952 CYP2C115P cytochrome P450, family 2, subfamily C, polypeptide 115, pseudogene 10 96665655 96665890 + 100874513 ABBA01021845;AL133513;AMYH01002966;NG_032714 CYP2C9-de1b pseudo 42405 INFERRED 69201 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008] 12 12 q13.1-q13.3 56442384 56447243 - 58156117 58160976 - 1600874;734871;1580863;2307312;2307310;2307313;2307311;2307322;2307324;2307321;6480464;6907045;7240710 9486994;11416220;17223345;18476984;3295473;17606874;3348368;6282936;1328752 9344864;9333115;19343046;19255064;19219539;19154546;19064572;18843020;18768522;18767934;18767073;18689381;18676680;18495603;17932346;17878529;17488797;17426122;17395703;17395559;17368179;17287116;17267208;17254772;17250953;17236759;17207994;17207990;17079137;17023519;16720713;16549446;16061850;15956353;15947108;15934135;15795327;15589699;15342556;15331405;15296474;15243130;15225751;14671156;12855575;12746631;12520522;12496369;12477932;12386916;12161526;12137802;12107095;12050281;12050193;12039697;10566658;10359826;10320521;9837822;9428799;9415400;9295274;9282826;1971995;21145801;21542014;1690216;1662663;12457456;11799066;22511602;22516854;22547098;19913121;20628086;20648053;20654748;20687218;15583024;15951480;19170196;19453261;19454612;19505920;19524013;19525955;19625176;19667158;19706847;19783860;19852851;19891555;19951419;19966181;19998245;20007432;20082271;20453000;20518841;20701904;20809279;20847308;20877624;20831823;20152900;20304056;20534770;22443290;22963605;21107545;20619365;23045480;21441443;22588163;21440908;21869486;23149444;22190362;23063903;22326730;22446158;22612324;21833088;22995334;23423976;23444327;23483640;23286944;23334593 1594 F8VWR7;O15528;Q548T3 AB005038;AB005989;AB005990;AB006987;ABBA01026694;AC025165;AF020192;AF027152;AF072470;AF246895;AF256213;AF500480;AK314953;AMYH01004525;AW449645;AY288916;BC001776;BC020267;BC136386;BP296031;CH471054;DQ925362;DQ925363;DQ925367;DQ925368;DQ925369;DQ925370;NG_007076;NM_000785 AAC51853;AAC51854;AAD38325;AAF64299;AAG00416;AAI36387;AAM21669;AAP31972;BAA22656;BAA22657;BAA23416;BAA23418;BAG37458;EAW97067;NP_000776;O15528 Hs.524528 1848538;2141843 A007H24;RH48116 CP2B;CYP1;CYP1alpha;CYP27B;P450c1;PDDR;VDD1;VDDR;VDDRI;VDR 1alpha(OH)ase;25 hydroxyvitamin D3-1-alpha hydroxylase;25-OHD-1 alpha-hydroxylase;25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial;OTTHUMP00000243864;VD3 1A hydroxylase;calcidiol 1-monooxygenase;cytochrome P450 subfamily XXVIIB polypeptide 1;cytochrome P450C1 alpha;cytochrome P450VD1-alpha;cytochrome p450 27B1 APPROVED protein-coding ENSG00000111012 2606 02031 264700;609506 REVIEWED 1346613 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008] 2 2 q33-qter 219354949 219388259 + 219646472 219680016 + 1600654;1600872;1600874;1580863;6480464;6907045;7240710 16258026;2019602;9486994 1708392;9790667;19343046;19255064;18791760;18227423;17875655;17697869;17482558;17292862;17088262;16930540;16584175;16372260;16157755;15708352;15533057;15489334;15340076;15128046;14741198;14672608;12777473;12477932;12242561;12119285;12117727;12011083;12000359;11903362;11604260;11167933;10519880;9215552;9186905;8514861;8125298;7915755;7690968;19913121;20628086;20654748;19671838;19852851;20450308;20809279;20855565;20877624;20301583;20558929;20149624;21134350;21049985;20402754;21498512;21411718;22018287;21988832;22227097;21958693;21258856;22509407;22185844 1593 C9J1K5;F8WD90;Q02318 ABBA01023857;AC009974;AK226039;AK290418;AK310782;AMYH01011497;AY178622;BC017044;BC040430;BC051851;CH471063;M62401;NG_007959;NM_000784;S62709;X59812 AAA52142;AAB27199;AAH40430;AAH51851;AAO21126;BAF83107;CAA42481;EAW70653;EAW70654;EAW70655;NP_000775;Q02318 Hs.516700 1661820;1683427;2217238 CYP27A1_2778;RH69156;RH79678 CP27;CTX;CYP27 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase;5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase;5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase;OTTHUMP00000045925;cholestanetriol 26-monooxygenase;cytochrome P-450C27/25;cytochrome P450 27;cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1;sterol 26-hydroxylase, mitochondrial;sterol 27-hydroxylase;vitamin D(3) 25-hydroxylase APPROVED protein-coding ENSG00000135929 2605 05939 213700;606530 REVIEWED 1353273 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 38181466 38188779 - 46073184 46080497 - 41381344 41388657 - 1580863;6480464;6907045 22890016;7864805;16636685;15128046;12477932;12325023;11960914;10493259;10353262;9890157;8587134;8043031;7668294;2322567 1549 F8W816;M0R020;P20853 ABBA01040793;AC008537;AMYH01009812;AMYH01009813;BC117165;BC143325;CH471126;M33317;NG_007960;NM_000764;NM_030589;U22029 AAA52138;AAB40520;AAI17166;AAI43326;EAW57013;EAW57014;NP_000755;NP_085079;P20853 Hs.719890 2109211;2130247;2144540 CYP2A7_3119;DXS7515;RH11626 CPA7;CPAD;CYP2A;CYPIIA7;P450-IIA4 cytochrome P450 2A7;cytochrome P450 IIA4;cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7;cytochrome P450IIA4 APPROVED protein-coding ENSG00000198077 2611 07453 608054 REVIEWED 6480940 CYP2C59P cytochrome P450, family 2, subfamily C, polypeptide 59, pseudogene 10 96767155 96767322 - 100874505 ABBA01021844;AL359672;AMYH01002967;NG_032713 pseudo 42406 INFERRED 1347013 CYP2B7P1 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 19 19 19 q13.2 38230298 38256691 + 46122012 46148403 + 41430170 41456565 + 6480464 17885627;15128046;12477932;7668294;2573390 1556 Q14097 ABBA01040794;AC008537;AC092071;AK307933;AK310944;AMYH01009813;BC041174;DQ198366;DQ198367;M29873;NR_001278 ABB05542;ABB05543 Hs.529117 1669248;1739527;2153366;5016478;5020948;5037552;5118250 D11S3159;D19S1089;D19S815;D8S2279;G35510;GDB:434012;RH11435 CYP2B;CYP2B7;CYP2B7P pseudo ENSG00000256612 2616 PROVISIONAL 1343424 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008] 19 19 q13.2 46041284 46048180 - 41349443 41356352 - 1580863;6480464;6907045;7240710 11278503;11259349;11241319;11237731;11207029;11054771;10781881;10544257;9890157;9409631;8587134;7668294;7581481;4011450;3856261;2748347;2726448;1944238;1889415;15039299;15665333;7864805;9827545;2322567;19415821;19406142;18360915;18216723;18212800;18188752;18004205;17979512;17934923;17927692;17916905;17683511;17646279;17549345;17540336;17522595;17454707;17267622;17259654;17220563;17207267;17156750;17130279;17112802;17036930;17015050;16952495;16891249;16857725;16758265;16720336;16636685;16470306;16452582;16402128;16402086;16378601;16377082;16372023;16344560;16272956;16207711;16176798;16126166;16086027;16048566;16041240;16006997;15993850;15940289;15900015;15861044;15861035;15671201;15660270;15618701;15592323;15564629;15534625;15489334;15475735;15469410;15454735;15370155;15327835;15308589;15225612;15203795;15128046;14981342;14583682;14568264;12883749;12844137;12749606;12721789;12708602;12477932;12445030;12419832;12406643;12325023;12223434;12172220;12164325;12162851;12115524;11960914;11960911;11927840;11927498;11805739;11725533;11684323;11434509;19371316;19365400;19361454;19343046;19339270;19303722;19300303;19290787;19279561;19225447;19104915;19082995;19040121;19012698;18979093;18976031;18941913;18936436;18715882;18698229;18666753;18510611;18425152;18380793;20139165;20596643;20647221;20717551;21521021;15680923;18356043;19029318;19251454;19387893;19454817;19479063;19533856;19537956;19604090;19643819;19651758;19659438;19703308;19751749;19779319;19789190;19845430;19921195;19956635;20061389;20089352;20136358;20155256;20173083;20177288;20336063;20418888;20437850;20438369;20506136;20012030;21326246;20887713;20418890;20701904;20734048;20734064;20860463;19702528;20719908;21685187;20656072;21205058;21473878;22696418;22497566;22547082;21747048;22498344;21418183;21765098;21964962;22073590;22342802;21265876;22160797;21410749;21791872;22271297;21745589;22322240;22080838;22465937;22854688;22614024;22847926;22217675;23178447;22706231;23292114;23203414;23049750;22890016 1548 M0R2Z4;Q4VAU1 ABBA01040792;AC008537;AF182275;AF326721;AK307740;AK309594;AK312964;AMYH01009811;AMYH01009812;BC096253;BC096254;BC096255;BC096256;CH471126;DA641580;EU135979;FJ440681;M33318;NG_008377;NM_000762;U22027;X06401;X13897;X13929 AAA52067;AAB40518;AAF13600;AAG45229;AAH96253;AAH96254;AAH96255;AAH96256;ABV02584;ACK44068;ADR83022;BAG35803;CAA32097;CAA32117;EAW57012;NP_000753;P11509 Hs.250615 1660631;2130247;2144540;5126674 D19S993;DXS7515;RH11626;RH11716 CPA6;CYP2A;CYP2A3;CYPIIA6;P450C2A;P450PB 1,4-cineole 2-exo-monooxygenase;CYPIIA6;coumarin 7-hydroxylase;cytochrome P450 2A6;cytochrome P450 IIA3;cytochrome P450(I);cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6;flavoprotein-linked monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000255974 2610 00420 122700;122720;188890;211980 REVIEWED 1352043 CYP2D7BP cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 7b (pseudogene) q13.2 1358797 1566 NG_000853;X58468 1682289;1770869 RH27796;STS-M33189 CYP2D7AP APPROVED pseudo INFERRED 1346751 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 q13.2 46189044 46216141 + 41497204 41524301 + 1580863;5129544;6480472;6480464;6907045 12971802;19144407 19486190;19474786;19474465;19467232;19464434;19433561;19425200;19414633;19376514;19371316;19343046;19290787;19282874;19239339;19228205;19225447;19218571;19124658;19106084;19076156;19074885;19005482;18989234;18979093;18978480;18854779;18839779;18784455;18728241;18621926;18496131;18332083;18303024;18287571;18281305;18223457;18171905;18090046;18057928;18024866;18004205;17918089;17900275;17885627;17682072;17654295;17638512;17559344;17502835;17465455;17455229;17407229;17391322;17356468;17352764;17329992;17235330;17223085;17178267;17054410;17047492;17015050;16951995;16912957;16815693;16772608;16623664;16538176;16506047;16495778;16433869;16392089;16338275;16267764;16183265;16125881;16116487;15864119;15825040;15622315;15572372;15563456;21486104;15284537;15248218;15194512;15190123;15178651;15128046;15057824;14977870;14515060;12814665;12738724;12721789;12642465;12629583;12571232;12490624;12477932;12439223;12242601;12207635;11991950;11602525;11470993;11353758;11298076;11243870;10768437;10471061;10037683;15469410;15383491;9890157;9179987;8587134;8432525;7668294;2899870;2813061;2573390;2308828;15319333;15039299;16331994;20583967;21169260;20529763;20602615;20610889;20625352;20639527;20662624;20668445;20677014;20696882;20720517;20723261;18356043;19029318;19531981;19593168;19651758;19659438;19682083;19693007;19696793;19704172;19779319;19797611;19812066;19833192;19916993;19926050;19944064;20017669;20079471;20089352;20096935;20136364;20173083;20179710;20307138;20338069;20350955;20361990;20418888;20459744;20622021;20624854;20517174;20642445;20734064;20841522;20860463;20861742;20876786;20878158;20881953;20952418;20970553;21108329;19702527;22685215;21158011;20952238;21156812;20966044;22462748;22936314;22942317;21715435;21821736;21886015;23254426;22232427;21741706;21746968;22281205;20137387;21694616;22471906;22519658;23344581;22680342;22909231;23298916;22950382;23249875;23288240;22815312;23238783;22397853 1555 B4DWP3;M0QZJ2;P20813 ABBA01040795;ABBA01040796;AC011541;AC023172;AF081569;AF182277;AK301620;AMYH01009815;BC067430;BC067431;CH471126;DQ298753;M29874;NG_007929;NM_000767;X06399;X06400;X13494 AAA52144;AAD25924;AAF13602;AAF32444;AAH67430;AAH67431;ABB84469;BAG63105;EAW57015;NP_000758;P20813 Hs.1360 1688302;1739527;5015881;5016478;5020948;5022200;5037552;5118250 D11S3159;D19S815;D8S2279;G35510;GDB:335751;GDB:434012;L18426;RH80275 CPB6;CYP2B;CYP2B7;CYP2B7P;CYPIIB6;EFVM;IIB1;P450 1,4-cineole 2-exo-monooxygenase;cytochrome P450 2B6;cytochrome P450 IIB1;cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6 APPROVED protein-coding ENSG00000197408 2615 00477 123930;614546 REVIEWED 1352907 CYP2D7P2 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2 1358797 1567 NG_005574;X58467 CYP2D7AP;CYP2D7BP pseudo 2627 1606588 CYP2D8P1 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 22 22 22 q13.2 26351987 26357294 - 40875723 40881044 - 42545874 42551097 - 2574001;15128046 1568 ABBA01055665;AL021878;AMYH01012811;BX247885;M33387;NG_000854 1729201;1745717 GDB:190916;GDB:632773 CYP2D8P;CYP2DP1 pseudo 2628 INFERRED 737416 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008] 10 10 q24 96512453 96602661 + 96522463 96612671 + 1580863;1357962;1300048;5129544;6480464;6907361;6907045;7240710 10879814;12971802;22170007 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826689;21972404;21507170;21831410;21977947;21971440;22589111;21689142;21692828;21777277;21794898;21795468;21862109;21913914;22007612;22030270;22070512;22071359;22088240;22118006;22123356;22281205;22304323;22318618;22324425;22425806;22612904;22377481;21913948;21916910;22875498;22875511;23016454;23179471;23556336;23257377;22374717;22585284;22971905;23193974;22984423;23074110;22747643;22122271;22591668;22929815;23175667;23412869;21861665;22154242;23118231 1557 P33261;Q767A3 AB113829;ABBA01021845;AL133513;AL583836;AMYH01002966;AY796203;L39098;L39102;M61854;NG_008384;NM_000769;X65962 AAB59426;AAI11847;AAL31347;AAL31348;AAV41877;BAD02827;CAA46778;NP_000760;P33261 Hs.282409 1656220;1682712;1742215;1743661;1774883;2126313;5120668 D10S2360;GDB:193845;GDB:364113;GDB:364118;RH70868;RH80282;STS-L07093 CPCJ;CYP2C;P450C2C;P450IIC19 (R)-limonene 6-monooxygenase;(S)-limonene 6-monooxygenase;(S)-limonene 7-monooxygenase;CYPIIC17;CYPIIC19;OTTHUMP00000020132;S-mephenytoin 4-hydroxylase;cytochrome P-450 II C;cytochrome P450 2C19;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19;cytochrome P450-11A;cytochrome P450-254C;cytochrome p450, subfamily iic (mephenytoin 4-hydroxylase);flavoprotein-linked monooxygenase;mephenytoin 4'-hydroxylase;mephenytoin 4-hydroxylase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding 2621 00486 124020;609535 REVIEWED 1606589 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 q23.33 96786519 96819244 - 96796529 96829254 - 2316509;2316977;5129544;6480464;6907045;7240710;7243146;7243143 17253883;17353665;12971802;18769365;20495177 22542470;21214863;19415824;19381162;19343046;19339270;19290787;19143748;19129086;19074885;19064572;19023099;18992346;18779360;18694831;18594024;18574320;18548238;18496133;18413310;18303964;18216720;17975119;17925548;17923851;17913794;17701008;17670841;17635176;17627038;17558302;17429317;17373732;17241877;17224914;17178266;17175891;17048007;16957870;16856883;16646575;16538176;16475901;16390351;16372821;16359408;16299241;16253141;16202848;16164496;16141797;16025294;15961978;15933212;15901749;15864120;15785959;15716363;15606441;15469873;15469410;15289789;15128046;15074466;14676196;14646690;14534525;12936704;12920163;12756196;12477932;12435384;12429347;11668219;10874126;10768437;10704292;10487415;9890157;9797707;9586955;8530044;7841444;7704034;7574697;3697070;3500169;3196692;2729895;2216732;2009263;1707679;12756206;15319333;8870687;20857895;19913121;20529763;20602612;20602615;20628086;20665013;20808793;15039299;16385451;18619574;19470925;19480553;19504558;19651758;19706858;19761371;19773535;19833260;19935798;19954515;20013305;20031551;20136364;20173083;20190184;20212519;20214592;20368717;20375710;20379614;20389299;20436375;20437850;20523106;9842986;15028279;20970553;21047199;21054465;21059750;20890775;21163940;22723340;20848147;23118231;21375401;22625877;21245287;21798861;21697548;21270106;21697463;22028915;22028317;21977947;21685474;21838784;21173785;21791871;21778352;22027337;23307233;21081644;23171856;23336573;22339777;22313047;22527101;22242967 1558 B7Z1F5;E9PIW6;E9PLI9;F5H7Q9;G3V188;P10632 ABBA01021841;AK292753;AK293327;AK293328;AK298401;AK303813;AK315823;AL359672;AMYH01002967;AY514490;BC020596;CD014119;CH471066;M17397;M17398;M21941;M21942;NG_007972;NM_000770;NM_001198853;NM_001198854;NM_001198855;X51535;X54807;Y00498 AAA35739;AAA35740;AAA52160;AAA52161;AAH20596;AAR89907;ABM82326;ABM85505;BAF85442;BAF98714;BAH11491;BAH11492;BAH12777;BAH14057;CAA35915;CAA38578;CAA68550;EAW50016;EAW50017;EAW50018;NP_000761;NP_001185782;NP_001185783;NP_001185784;P10632 Hs.709188 1678899;2180560 RH69099;RH79997 CPC8;CYPIIC8;MP-12/MP-20 CYPIIC8;OTTHUMP00000020134;OTTHUMP00000233373;P450 form 1;cytochrome P450 2C8;cytochrome P450 IIC2;cytochrome P450 MP-12;cytochrome P450 MP-20;cytochrome P450 form 1;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8;flavoprotein-linked monooxygenase;microsomal monooxygenase;s-mephenytoin 4-hydroxylase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000138115 2622 03083 601129 REVIEWED 1350226 CYP2F1P cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene 19 19 19 q13.2 38124989 38133102 - 46016420 46024516 - 41324580 41332676 - 1300428 11827709 11692077;15128046 171427 ABBA01040792;AC008537;AF372495;AF372496;AF372497;AMYH01009809;NG_029339 1657986;1754461;2125826;2153014;2217244 CYP2F1_2820;D19S1055;D19S986;D20S755;SHGC-132734 pseudo 18851 INFERRED 1322740 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q24 96433368 96485514 + 96443251 96495947 + 1580863;6480464;6484113;6907045 8110777;19290787;19204726;19074885;19038035;17048007;15489334;15302935;15164054;15128046;12694732;12477932;12378636;11093772;10768437;10704292;10487415;9890157;9797707;9154796;9028867;8333835;8125298;8095407;7704034;2009263;1896026;1306110;15319333;20529763;16359177;16385451;19578179;19706858;19751749;19958090;20045989;20453000;17207965;21163940;21798861;21988832 1562 P33260;Q7Z348 ABBA01021846;AK223510;AK308558;AK313403;AL157835;AL583836;AMYH01002966;BC069666;BC096257;BC096258;BC096259;BC096260;BJ993698;BX538127;CH471066;L16876;M61853;M61856;NG_008373;NM_000772;NM_001128925;X56452 AAA02630;AAB59356;AAH69666;AAH96257;AAH96258;AAH96260;ADQ31959;BAD97230;BAG36199;CAA39833;CAD98029;EAW50024;NP_000763;NP_001122397;P33260 Hs.511872 2135451;2167213 D4S1512;RH2 CPCI;CYP2C;CYP2C17;DKFZp686I24235;P450-6B/29C;P450IIC17 (S)-mephenytoin hydroxylase associated cytochrome P450;CYPIIC18;OTTHUMP00000020131;cytochrome P450 2C18;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17;cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18;cytochrome P450-6B/29C;flavoprotein-linked monooxygenase;microsomal monooxygenase;unspecific monooxygenase APPROVED protein-coding ENSG00000108242 2620 03085 601131 REVIEWED 1317784 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008] 10 10 q24 96688430 96739137 + 96698415 96749148 + 1580863;2307148;2307150;2307149;2307152;2307153;2307154;2307151;2316977;2316509;5129544;6480464;6903918;6903909;6903940;6903915;6903939;6907045;7240710 17963417;17305793;17597710;16325295;16303885;15963101;16788382;17353665;17253883;12971802;16985032;19669737;8531418;18829737;11158222 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430047;20434758;20436375;20437850;20442691;20445534;20453000;20458343;20459419;20459744;20488169;20504253;20815369;19942260;20102361;20569971;20831047;20831536;20833655;20833683;20833980;20842355;20852447;20854800;20857895;20884456;20885015;20930419;20937634;20941486;20946155;20962433;20970553;21044367;21047199;21057703;21063236;21068649;21071160;20499136;20167002;19925388;20845310;21691805;22808915;21160360;21248432;21108610;21334530;21533175;22528326;21537551;21638223;23118231;20656072;22533669;22952875;21163940;22941809;21110192;21167292;21544933;22294058;21213107;21292004;21451434;21786578;21493749;21639946;21375401;21597400;21768671;23171336;22547083;21371265;21725053;21148049;21766908;21798861;22198820;22452429;23145098;22842957;22855348;21985811;19881396;21173785;22289258;22571356;21651319;22075505;23159639;22188360;22589111;22272893;17827526;23081681;22534826;23089473;21988832;22854539;23065265;23113310;22735459;23099353;22918969;23556337;21861665;22288731;21215088 1559 P11712 ABBA01021844;ABBA01021845;AK289420;AK298458;AL359672;AMYH01002966;AY341248;AY702706;AY904366;BC020754;BC070317;BC125054;BJ993098;CH471066;D00173;L16880;L16883;M15331;M21939;M21940;M61855;M61857;NG_008385;NM_000771;S46963 AAA52157;AAA52158;AAA52159;AAB23864;AAD13466;AAD13467;AAH20754;AAH70317;AAI25055;AAP88931;AAT94065;AAW83816;BAA00123;BAF82109;BAG60671;EAW50019;EAW50020;NP_000762;P11712 Hs.282624 1648139;1660036;1742215;1853272;2126313;2217240 CYP2C9_3248;D10S2360;GDB:193845;RH45236;SGC35305;SHGC-33162 CPC9;CYP2C;CYP2C10;CYPIIC9;MGC149605;MGC88320;P450IIC9 OTTHUMP00000020135;cytochrome P-450 S-mephenytoin 4-hydroxylase;cytochrome P-450MP;cytochrome P450 2C9;cytochrome P450 PB-1;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000138109 2623 03084 122700;601130 REVIEWED 1347954 CYP2G1P cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene 19 19 19 q13.2 38197246 38206180 + 46088964 46097897 + 41396731 41406413 + 6480464 18085818;14702039;11186129;8561797;15128046 22952 Q6ZSU1 ABBA01040794;AC008537;AF274763;AF274764;AF274765;AF274766;AF274767;AK127151;AMYH01009813;NR_040249;S80997 AAB35962;BAC86855;Q6ZSU1 Hs.738699 1338341 D19S223 CYP2G1;CYP2G2P;CYP2GP1 pseudo ENSG00000130612 2633 601133 VALIDATED 1342578 CYP2G2P cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene 19 19 19 q13.2 38356501 38368505 - 46248197 46260189 - 41556357 41568349 - 15128046;11692077;11186129 83757 ABBA01040796;ABBA01040797;AC008962;AF274755;AF274756;AF274758;AF274759;AF274760;AF274761;AF274762;AMYH01009815;NG_029337 CYP2G2;CYP2GP2 pseudo 15653 INFERRED 1346997 CYP2D7P1 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 This pseudogene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. It is possible that, in rare cases, a combination of two SNPs in this gene may result in an open reading frame encoding a functional enzyme which metabolizes codeine to morphine. This locus is part of a cluster of cytochrome P450 genes on chromosome 22q13.1. [provided by RefSeq, Jul 2008] 22 22 22 q13 26342407 26346769 - 40866158 40870519 - 42536214 42540575 - 17494644;16400609;16169517;15051713;12477932;12171760;2574001;1358797;15128046 1564 F5H6E7 ABBA01055664;ABBA01055665;AK308043;AL021878;AMYH01012811;AY220845;BC108679;BX247885;M33387;NR_002570;X58467 AAO49806 Hs.333497 1682289;1770869 RH27796;STS-M33189 CYP2D;CYP2D7;CYP2D7AP;CYP2D@;P450C2D;P450DB1 APPROVED pseudo ENSG00000205702 2624 13108 VALIDATED 1342679 CYP2T2P cytochrome P450, family 2, subfamily T, polypeptide 2, pseudogene 19 19 19 q13.2 38114808 38117705 - 46006240 46009137 - 41314400 41317297 - 11692077;20210993;15128046 171523 ABBA01040792;AC008537;AMYH01009809;NG_029340 2118954 D2S2863 APPROVED pseudo 18852 INFERRED 1351125 CYP2T3P cytochrome P450, family 2, subfamily T, polypeptide 3 pseudogene 19 19 19 q13.2 38440784 38443418 + 46332464 46335098 + 41640624 41643258 + 11692077;15128046 163007 ABBA01040797;ABBA01040798;AC008962;AMYH01009815;NG_029338 pseudo 18853 INFERRED 1345007 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008] 10 10 q26.3 135190857 135202610 + 135340867 135352620 + 1580863;1626305;1626302;2313683;2313687;2313688;2313685;2313684;2313686;1626307;4892219;4892222;4892076;4892220;4889126;4142512;4892223;4892217;4892216;4892218;4892242;4892244;4892235;5147745;6480464;6907045 12883487;14606109;19406192;10679205;10049703;12700423;12743671;12534643;17049493;17442289;8667236;20514434;17081494;14593914;15928955;14698565;19352025;20392357;17950035;20595028;19404342;21094789;15665729 10731522;10741631;11701230;3233219;19219744;19643819;19575027;19537956;19528831;19521675;19506726;19492240;19489076;19481674;19428381;19390575;19382518;19381774;19357030;19351467;19343046;19339548;19336370;19334053;19290787;19288740;19267064;19250143;19230487;19190172;19157724;19157621;19131562;19124503;19115622;19096130;19074885;19064572;19058336;19012698;18992148;18990750;18936436;18801337;18798003;18798002;18773092;18769766;18726416;18715838;18713495;18698632;18676680;18663376;18645668;18642288;18636124;18628434;18569591;18569587;18569579;18550589;18544910;18510611;18507060;18497573;18473182;18472009;18466102;18460770;18423013;18420361;18418580;11776598;11774269;11766168;11751440;11748356;11746208;11719088;11700262;11697456;11696658;11675150;11641039;11535253;11535247;11520401;11503278;11422615;11410713;11406608;11389775;11377232;11331106;11305777;11275366;11263781;11259352;11236836;11207032;11198676;11191882;11104220;11051375;10620320;9918138;9890157;9834965;9398194;9129165;9058590;8809087;8307581;8031147;7773503;7733943;7529759;3782137;3675576;18369917;18327668;18322963;18304215;18261353;18258609;18231117;18218609;18211048;18056994;18034693;18028774;18025800;17996038;17963298;17935737;17916905;17885617;17695473;17659824;17627011;17617119;17611777;17603900;17584020;17577619;17564586;17559142;17498780;17486761;17440116;17427487;17384900;17380320;17373732;17367411;17361553;17331164;17292341;17284772;17264406;17219769;17178637;17176083;17156750;17146594;17134659;17119944;17119198;17118447;17078101;17059334;17034788;17022435;17016589;17007050;16985032;16985026;16962935;16841220;16837478;16834659;16770646;16758119;16721740;16720291;16679316;16634857;16600530;16551616;16535827;16497268;16488179;16484137;16471212;16470306;16459354;16440362;16425414;16424825;16393248;16380384;16372174;16365683;16337880;16324524;16311924;16253141;16235992;16235983;16172237;16142352;16137184;16126235;16125881;16052683;16043197;16039674;16019049;16006997;15991278;15968714;15961886;15952134;15938845;15914277;15914211;15902904;15899651;15849806;15793883;15780023;15774926;15769360;15763499;15753073;15734972;15714076;15712341;15660387;15646021;15640066;15633127;15632182;15536330;15532721;15519646;15491310;15469410;15370874;15355699;15349722;15327835;15318112;15289170;15226677;15220553;15215328;15182482;15177663;15162526;15138035;15128046;15125228;15112335;15066574;15064998;15061915;15036355;14991750;14757192;14751678;14696128;14695664;14695651;14691069;14681495;14669323;14661969;14646291;14634838;14578150;14535982;14527082;14510941;14500779;12960506;12940444;12939804;12915519;12883749;12860273;12851035;12824892;12824748;12813050;12777965;12777962;12777398;12774019;12771559;12767509;12760253;12759747;12739102;12738724;12732844;12721789;12718671;12718576;12710951;12707490;12705718;12668988;12601351;12579334;12569554;12563175;12561466;12554615;12552594;12548461;12540498;12490624;12477932;12469218;12460800;12454736;12452057;12403788;12397416;12376511;12376502;12365037;12355548;12351530;12211622;12198369;12172927;12115524;12080432;12063626;12055050;12047484;12010862;11966948;11964928;11960914;11911601;11907164;11895912;11869835;11854903;11815398;11802217;11798822;11782477;21265876;2587619;1778977;1719479;14499622;22506592;21261721;19913121;20529763;20554493;20556843;20598484;20602615;20628086;20634891;20637790;20661821;20663217;20675267;20819434;15039299;15680923;16385451;16401082;18356043;18446064;18818195;19170196;19484729;19625176;19651758;19655364;19686770;19692168;19706845;19751749;19761367;19786980;19789190;19805575;19822571;19826048;19860798;19874574;19887496;19891553;19927646;19948975;19956635;19958676;19963114;19963139;20026093;20029944;20093049;20095411;20100563;20100738;20101753;20102722;20117323;20131310;20169287;20171022;20173083;20180013;20195803;20364586;20394984;20401433;20404016;20426969;20437058;20453000;20511665;20031389;20463018;19796841;21228414;20576306;20932821;20939108;20941486;20957336;20958328;20969746;21072184;21076874;22156006;20715111;20406102;19442564;20692331;21209460;23007992;22807108;22957075;22761909;22788240;21295098;21385088;11756225;21557999;21856753;21705789;21729529;22589738;23454624;21281483;22088806;16331994;22228187;22436864;22109568;22126492;22442693;21553050;21590276;21745589;21869556;22077825;22155602;22238121;22251540;22384697;22342293;21360299;21895718;22012226;22222162;22230367;22392284;22485222;22613106;23131254;23355335;22249978;22606226;22614694;22997752;23124075;23244081;23139769;21988832;22335459;23077626;22591346;23251661;23104821;23418369;23471973;23186213;22815852;23066397;23335995;23193974 1571 F5H694;H0Y593;H0Y7H4;H0YGV5;P05181 ABBA01006221;ABBA01006222;AF084225;AF182276;AJ853939;AJ853940;AJ877238;AK290822;AL161645;AMYH01003243;BC067433;BC067435;BX951478;CH471211;D10014;D50111;DQ149222;DQ515958;J02625;J02843;NG_008383;NM_000773;S77873 AAA35743;AAA52155;AAD13753;AAD14267;AAF13601;AAH67433;AAH67435;AAZ77710;ABF47105;BAA00902;BAA08796;BAF83511;CAH69381;CAH69382;CAI47002;EAW61357;EAW61358;NP_000764;P05181 Hs.12907 1697818;1741545;1742367;1743155;1775501;1851795;2145078;2157762;2217242;5117570 CYP2E1_2771;D10S2350;D10S2410;GDB:181494;GDB:196492;GDB:277133;GDB:580696;RH102433;RH1572;WI-14945 CPE1;CYP2E;P450-J;P450C2E 4-nitrophenol 2-hydroxylase;CYPIIE1;OTTHUMP00000020813;OTTHUMP00000238612;OTTHUMP00000238613;cytochrome P450 2E1;cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1;cytochrome P450-J;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000130649 2631 11813 124040 REVIEWED 1351527 CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] 19 19 q13.2 46312193 46326121 + 41620353 41634281 + 1580863;6480464 1974816;19343046;17943660;17327131;16883522;15128046;12598524;12477932;11827709;10383923;9539103;8619884;8587134;8432525;2045106;20198857;22397853;22232929 1572 H0YGI9;P24903;Q32MN5 ABBA01040797;AC008962;AF372573;AK298082;AK316498;AMYH01009815;BC109056;BC109057;CH471126;J02906;NG_007930;NM_000774 AAA52156;AAI09057;AAL69652;BAG60369;BAH14869;EAW57017;EAW57018;NP_000765;P24903 Hs.558318 1754461;2125826;2217244 CYP2F1_2820;D19S986;SHGC-132734 C2F1;CYP2F;MGC126121 CYPIIF1;OTTHUMP00000235890;OTTHUMP00000235904;cytochrome P450 2F1;cytochrome P450, subfamily IIF, polypeptide 1;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000197446 2632 00490 124070 REVIEWED 736217 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.1 40852445 40856827 - 42522501 42526883 - 1358549;1300401;1580863;2316977;5129544;5135288;5143944;5143945;6480464;7240710;7207226 12629505;14523622;17353665;12971802;19733976;19575027;20088379;3186722 21248727;19387424;9890157;19219744;19652678;19636337;19604091;19604081;19597703;19596663;19593802;19593168;19593158;19537956;19527514;19523031;19521114;19512959;19474452;19470220;19429471;19421167;19405050;19395173;19387994;22141351;18061941;18048313;18034624;18024866;17992535;17971818;17966194;17965522;17965519;17957765;17947222;17921051;17909762;17908053;17882159;17828532;17803873;17764479;17761971;17725248;17715206;17714084;17713466;17701031;17700359;17697394;17667959;17667795;17635183;17635181;17624022;17610534;17609736;17581325;17573783;17570739;17568504;17554527;17547692;17541883;17536768;17530572;17517247;17503978;17479406;17470523;17460029;17454842;17450472;17449559;17442289;17431033;17418993;17392730;17374963;17361124;17329852;17325735;17324244;17311358;17304721;17301689;17297618;17289397;17270484;17259947;17250723;17244352;17242628;17241532;17234366;17225875;17224713;17194620;17186005;17178267;17115111;17113562;17102541;17089107;17038884;16960721;16924387;16880622;16864175;16858124;16855473;16849011;16845507;16833023;16819548;16815318;16812949;16778723;16775389;16771603;16716118;16679388;16642541;16638864;16638736;16633141;16633140;16611538;16595916;16584388;16551910;16550211;16544144;16537246;16534507;16493615;16490169;16478753;16476126;16466686;16459354;16423440;16415111;16361630;16352597;16337409;16315032;16294366;16283274;16272752;16249913;16239355;16236141;16220080;16205777;16198657;16189709;16162505;19374513;19365402;19364831;19357842;19356055;19350405;19343046;19336370;19330589;19320528;19308365;19303860;19296901;19290787;19284319;19242697;19225771;19219857;19194367;19192051;19189212;19189210;19169185;19164093;19162321;19156902;19153830;19151603;19142106;19095219;19094446;19082882;19071885;19047159;19037197;19033450;19032724;19025845;18553077;18547414;18551040;18545991;18543297;18520597;18520596;18480698;18474679;18474629;18445827;18433425;18429752;18425996;18425152;18423013;18414197;18407954;18401578;18384443;18382661;18372530;18346782;18346175;18327668;18317231;18304900;18300942;18294285;18287869;18280655;18261353;18258609;18240905;18231117;18223460;18214849;18214456;18211048;18204346;18202841;18197300;18183034;18167502;18165569;18086475;18075468;18070221;16835697;16141609;16130179;16079496;16048566;16037945;16025294;16024198;16006997;15987423;15970126;15952058;15932952;15914211;15861039;15855722;15843230;15820320;15817819;15813658;15774926;15770075;15769360;15768052;15764408;15731591;15729081;15726636;15708542;15691505;15690482;15669884;15651900;15648054;15646732;15632378;15625333;15618665;15592325;15590749;15588859;15584944;15538128;15499201;15489334;15484318;15470329;15469888;15469410;15461802;15382273;15349706;15349705;15330195;15313161;15289790;15260906;15256524;15237854;15205367;15177309;15149890;15128046;15118351;15116051;15115913;16160620;15108188;15090156;15068562;15061826;15051713;15048614;15039299;15005635;14991823;14985156;14748763;14726986;14726620;14716707;14658041;14653957;14652703;14640293;14639062;14635107;14624403;14602525;14571354;14557687;14520122;14515061;14514498;14499440;14499311;13680033;12963435;12960748;12950145;12942225;12919180;12915955;12911679;12900872;12900870;12893130;12883230;12879776;12879168;12861292;12784098;12782969;12766554;12748560;12743673;12734765;12728976;12691769;12657030;12651805;12622923;12616663;12610741;12589966;12579870;12569554;12548461;12536989;12503836;12490310;12486288;12477932;12468438;12459840;12446689;12439227;12438554;12426523;12422998;12421483;12419832;12404686;12392820;12386646;12386645;12360109;12210290;12207635;12206675;12191703;12187002;12177686;12175908;12172336;12172215;12171978;12171760;12152006;12142727;12107620;12106691;12089164;12077255;12065557;12063626;11940091;11927839;11901361;11895912;11829201;11816009;11809184;11791895;11778144;11763000;11753272;11753271;11751440;11750286;11741249;11735606;11702057;11682257;11668217;11560558;11549206;11520401;11505219;11477317;11470994;11442888;11422615;11422605;11376189;11372584;11303596;11295783;11294012;11291049;11266079;11214775;11207032;11207030;11204351;11147929;11097352;11097351;11055624;11037802;11037800;10675100;10493260;10233205;10064570;19019335;19001559;19000940;19000552;18996102;18979093;18978520;18958918;18927241;18840375;18834373;18827765;18818748;18797858;18794105;18794098;18784654;18784265;18754843;18728242;18719619;18713907;18708991;18698000;18690546;18681789;18676680;18666237;18663559;18648788;18641553;18632250;18625943;19024387;18618215;18597648;9241659;8971426;8655150;8634695;8530011;8449513;8287064;7951238;7927337;7903454;7868129;7845481;3410476;3123997;2574001;2466049;2211621;1978565;1978251;1844820;1673290;11505218;12756206;12006905;15319333;9264312;12756210;21135868;21173786;22180068;22303032;22308038;22623212;21543662;22092298;22159753;21485696;20563569;20574415;20588073;20590587;20590588;20597905;20599499;20602615;20634891;20656020;20679960;20684753;20686235;20700584;20727252;20731819;20799519;20809362;20814331;21456632;21518482;15327587;16401082;18356043;18583979;18725510;19170196;19437119;19438707;19444434;19448135;19593180;19604084;19625176;19651758;19656108;19660006;19692168;19694742;19702490;19710640;19710642;19715474;19719813;19738170;19761369;19781968;19797609;19809024;19823875;19833260;19840783;19866496;19887477;19891553;19892789;19902987;19910717;19937844;19940985;19946748;19947517;19953095;19954080;19954746;19956635;19995332;19997080;20007670;20009880;20031551;20041956;20075642;20081063;20118554;20124171;20136364;20147896;20173083;20174590;20185366;20195825;20201714;20205348;20206139;20297661;20309015;20332423;20335142;20350136;20364044;20368706;20373852;20375710;20385997;20430047;20432045;20435235;20454926;20456744;20459744;20461808;20467479;20473659;20489028;20492431;20515869;20530222;20531370;20547595;20225176;20846929;20421845;20305604;20881950;20643254;16712791;11285084;19907421;20565970;20701904;20827267;20828547;20849243;20851451;20857895;20859244;20863179;20877299;20877302;20878561;20925579;20970553;21063774;21071160;21072184;20133509;22688624;22497725;22775532;22913530;20520586;20628863;21140323;21108610;20656072;21430657;21433154;21956465;21486104;21596874;21677335;22399238;23394389;21589866;23280482;22623266;21527579;21880792;21918425;21391885;21821735;21823108;22180372;22398969;21840870;21321564;21599570;21241245;21743374;21860550;21835244;21797939;22929407;23212934;21787170;21826689;21989258;21749835;21907728;23207012;21449914;21605066;21631295;21728792;21437611;22281720;22459173;22531512;22109568;20137387;21971440;21803659;22198443;22216145;22301406;22324840;22355045;22428763;22986607;23258538;22777153;23289191;21913948;15680923;22245658;22905959;22277677;22994728;23700791;23167378;23277250;23213055;23292115;23357843;23350374;21861665;22700965;22803153;21958961;22661184;22735900;22948856;22039821 1565 C1ID52;E7ENE7;H7BY38;P10635;Q5Y7H2 AB209492;ABBA01055663;AK308211;AK309600;AMYH01012810;AY545216;AY663390;BC066877;BC067432;BC075023;BC075024;BC106757;BC106758;BC126858;BX096000;BX247885;BX422592;CB124853;CH471095;CK032845;CR456430;DQ211353;DQ211354;DQ211355;DQ282144;DQ282145;DQ282146;DQ282147;DQ282151;DQ282152;DQ282153;DQ282154;DQ282155;DQ282156;DQ282157;DQ282158;DQ282159;DQ282160;DQ282162;M20403;M24499;M33189;M33388;NG_008376;NM_000106;NM_001025161;X07618;X08006;X16865;X16866 AAA35737;AAA36403;AAA52153;AAA53500;AAH66877;AAH67432;AAH75023;AAH75024;AAI06758;AAI06759;AAI26859;AAS55001;AAU87043;ABB01370;ABB01371;ABB01372;ABB01373;ABB77895;ABB77896;ABB77897;ABB77898;ABB77899;ABB77900;ABB77901;ABB77902;ABB77903;ABB77904;ABB77905;ABB77906;ABB77907;ABB77908;ABB77909;BAD92729;CAA30807;CAG30316;CAK54644;CAK54943;EAW60492;EAW60493;NP_000097;NP_001020332;P10635 Hs.333497;Hs.648256 1682289;1741993;1741995;1742973;1743129;1745717;1745719;1745721;1745723;1745725;1770869;5117969 GDB:187815;GDB:187817;GDB:222783;GDB:270292;GDB:632773;GDB:632777;GDB:632780;GDB:632785;GDB:632790;GDB:632800;RH27796;STS-M33189 CPD6;CYP2D;CYP2D7AP;CYP2D7BP;CYP2D7P2;CYP2D8P2;CYP2D@;CYP2DL1;CYPIID6;MGC120389;MGC120390;P450-DB1;P450C2D;P450DB1 CYPIID6;OTTHUMP00000198705;OTTHUMP00000198706;cytochrome P450 2D6;cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2;cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2;cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2;cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2;cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6;cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1;cytochrome P450-DB1;cytochrome p450 2d18;debrisoquine 4-hydroxylase;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000100197 2625 00487 124030;608902 REVIEWED 68958 CYP3A cytochrome P450, subfamily IIA (niphedipine oxidase) 7 99083753 99302109 - 6480464 1574 AF280107 1646413;1646859;1649345;1667177;1667428;1673475;1719171;1769182;1797466;1797468;2119951;2120055;2134102;2148288;2150104;2161343;5094036;7186369 A010B10;CYP3A43_1909;CYP3A4_2210;CYPNOA;D7S2832;D7S2874;D7S647;G33069;RH123304;RH45981;RH68186;RH71343;SHGC-16521;SHGC-1891;SHGC-33905;SHGC-35234;SHGC-36965;SHGC-8697 2635 1319774 CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008] 4 4 4 q25 106147507 106169403 + 109072166 109094062 + 108852717 108874613 + 1580863;6480464;6907045 15588491;15128046;14975754;14660610;12477932;12107412;20630735;20332099;21707071 113612 E9PGH5;Q7Z449 ABBA01063755;AC096564;AC114733;AK026498;AK290002;AK298989;AK303284;AK304724;AMYH01014451;AY343323;BC012027;BC132767;BC136483;BC144148;BU838483;BX354124;BX437421;CD672608;CH471057;NG_007961;NM_183075 AAH12027;AAI32768;AAI36484;AAQ21380;ADR83373;BAF82691;BAG61081;BAG64362;BAG65487;EAX06215;EAX06216;EAX06217;NP_898898;Q7Z449 Hs.109087 1644530;1664980;1848179;2147723;2170813;2182597 A006Y35;D4S3152;SHGC-18776;SHGC-50164;SHGC-59281;SHGC-59620 P450TEC;SPG49;SPG56 OTTHUMP00000219686;OTTHUMP00000219687;cytochrome P450 2U1;spastic paraplegia 49 APPROVED protein-coding ENSG00000155016 20582 13109 610670;615030 REVIEWED 1348432 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008] 11 11 p15.2 14856131 14870327 - 14899555 14913751 - 1580863;2315692;6480464;7240710 17607662 18511070;22576297;22801813;18476984;17223345;16600026;15489334;15465040;15128933;15128046;14702039;12867411;12477932;12464240;21270327;20654748;19783860;19852851;20007432;20418485;20541252;15583024;15951480;20809279;20619365;23190755;22855339;21441443;23063903 120227 E9PJT9;E9PS56;K7EMQ4;Q6VVX0 ABBA01061099;AC090835;AK092584;AMYH01003406;AW138676;AY323817;AY800276;BC052580;BC104907;BC104909;BC111070;CH471064;NG_007936;NM_024514 AAI04908;AAI04910;AAQ23114;AAV65814;EAW68470;EAW68471;EAW68472;EAW68473;NP_078790;Q6VVX0 Hs.371427 1699168;1713499 RH103163;RH120233 MGC4663 OTTHUMP00000231476;cytochrome P450 2R1;cytochrome P450, family 2, R1;vitamin D 25-hydroxylase APPROVED protein-coding ENSG00000186104 20580 10569 600081;608713 REVIEWED 1354467 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. [provided by RefSeq, Jul 2008] 1 1 p31.3-p31.2 60131568 60165011 - 60358980 60392423 - 1625384;1625377;1625385;1625379;1580863;1625380;1625381;6480464;6907045;7243130;7243136;7243127;7243153;7243137;7243143 15190971;17429317;14766666;17286575;17126841;10779386;22260463;20501636;23155181;21742052;20118222;20495177 17162467;16957870;16842392;16202848;16182271;16008525;15864120;15861034;15489334;15466638;15361551;15256482;15128046;14702039;14575523;12737630;12477932;12386130;11901223;10828211;10681399;10405341;10065373;9570962;9187259;9048644;8913342;8631948;19420105;19290787;19105833;18769365;18729130;18675280;18496133;18303964;18219097;18216721;18004755;17979511;17705402;17638876;17475630;17470359;17327508;19913121;20140850;20628086;19448409;19550113;19576320;19578796;19615687;19823578;19851119;19923256;20173083;20379614;20480811;20597138;21059750;22731644;21030485;22761738;21642892;22028915;22232929 1573 P51589;Q9UN91 AB080265;ABBA01074645;ABBA01074646;AC113175;AF039089;AF144566;AF272142;AK055088;AK315387;AMYH01000659;AY426985;BC032594;CH471059;NG_007931;NM_000775;U37143 AAC50370;AAD30164;AAH32594;AAK63192;AAM44456;AAQ93356;ABM81788;ABM84943;BAB85489;BAG37780;EAX06611;EAX06612;EAX06613;EAX06614;NP_000766;P51589 Hs.152096 2171947 SHGC-74906 CPJ2 CYPIIJ2;OTTHUMP00000010550;arachidonic acid epoxygenase;cytochrome P450 2J2;cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2;flavoprotein-linked monooxygenase;microsomal monooxygenase APPROVED protein-coding ENSG00000134716 2634 03159 601258 REVIEWED 6480935 CYP3A51P cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene 100874496 AC005020 pseudo 42418 1314487 CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.1 46390955 46405284 + 41699115 41713444 + 1580863;6480464 19343046;17529885;17495422;17280660;17277313;15489334;15450424;15128046;21319273;14702039;12975309;12721789;12711469;12477932;11181079;7566098;19368491;19713358;21430234;23224081;22039172;22232929;21139048;22863683 29785 B4DJI0;M0QY51;M0QYI2;M0R057;M0R152;M0R2G8;Q96SQ9 AA316622;ABBA01040801;AC011510;AF335278;AK027605;AK296087;AMYH01009819;AY358603;BC033691;BX422464;CH471126;NG_007933;NM_030622 AAH33691;AAK13498;AAQ88966;ABM84289;ABM87680;BAB55227;BAG58842;EAW57019;EAW57020;EAW57021;NP_085125;Q96SQ9 Hs.98370 1683485;2110353 CYP2S1_2466;RH92207 CYPIIS1;cytochrome P450 2S1;cytochrome P450 family member predicted from ESTs;cytochrome P450, subfamily IIS, polypeptide 1;cytochrome P540, subfamily IIS, polypeptide 1 APPROVED protein-coding ENSG00000167600 15654 07481 611529 REVIEWED 1344932 CYP3AP1 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1 This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A7 and CYP3A5 family members. It contains duplicates of exons 1, 2 and 13 that are found in the functional genes. Readthrough transcription exists between the CYP3A7 gene and this pseudogene, where the readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of this pseudogene, as represented in GeneID:100861540. This pseudogene is not known to be independently transcribed. [provided by RefSeq, Feb 2012] 7 7 7 q22.1 94016887 94031987 - 99120583 99135679 - 99282647 99297743 - 6480464 19384171;17450472;16314882;15937338;12060534;11137287;8569713;7893755;7811260;20679960;20519697 1578 Q6KGV3 AACC02000084;ABBA01013251;AC005020;AC069294;AF280107;AF315320;AF315321;AF315322;AMYH01017722;CH236956;L35912;NG_000856 AAG48617 1769182 SHGC-35234 CYP3A5P1 APPROVED pseudo INFERRED 1342602 CYP3AP2 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2 This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A4 and CYP3A7 family members. It contains duplicates of exons 1 and 2 that are found in the functional genes. This pseudogene does not appear to be transcribed. [provided by RefSeq, Feb 2012] 7 7 7 q21.3-q22.1 94080117 94084359 - 99183808 99188050 - 99345872 99350114 - 16314882;11266076;11137287 79424 AACC02000084;ABBA01013250;AC069294;AF280107;AMYH01017722;CH236956;NG_029328 CYP3A5P2 APPROVED pseudo INFERRED 1350489 CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 7 7 q21.1 99263572 99302109 + 99425636 99464173 + 1580863;6480464;6907045 19343046;18566991;16848237;16314882;15894682;15548719;15128046;14759258;14695544;12853948;12477932;11726664;11266076;11243885;11160876;11137287;9890157;20529763;21533175;19789190;21081028;20715157 64816 C9JA26;E7EMH4;E9PDL8;E9PG90;F8W6L8;Q495Y1;Q75MK3;Q9HB50;Q9HB55 AA417369;AACC02000084;ABBA01013245;ABBA01013246;ABBA01013247;AC011904;AF280107;AF280108;AF280109;AF280110;AF280111;AF280112;AF280113;AF319634;AF337813;AJ563376;AJ563378;AJ563379;AMYH01017726;AY390423;AY390424;AY390425;AY390426;BC100981;BC100982;CH236956;CH471091;NG_007935;NM_001278921;NM_022820;NM_057095;NM_057096;NR_103868;NR_103869 AAG32291;AAG33009;AAG33010;AAG33011;AAG33012;AAG33013;AAG33014;AAI00982;AAI00983;AAK00325;AAK38841;AAQ92351;AAQ92352;AAQ92353;AAQ92354;AAS07394;AAS07395;CAD91644;CAD91646;CAD91648;EAW76630;EAW76631;EAW76632;EAW76633;EAW76634;NP_001265850;NP_073731;NP_476436;NP_476437;Q9HB55 Hs.306220;Hs.571258;Hs.728751 1797466 CYP3A43_1909 MGC119315;MGC119316 OTTHUMP00000209987;OTTHUMP00000209989;OTTHUMP00000209994;OTTHUMP00000210037;cytochrome P450 3A43;cytochrome P450 polypeptide 43;cytochrome P450, subfamily IIIA, polypeptide 43 APPROVED protein-coding 17450 05942 606534 REVIEWED 1313076 CYP2W1 cytochrome P450, family 2, subfamily W, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008] 7 7 7 p22.3 990578 996997 + 989361 995802 + 1022835 1029276 + 1580863;6480464 17998294;17979506;16426568;15489334;15128046;12477932;22591743;16677611;20805301;20602611;22993331;21988832;22631658 54905 A6NJ10;H7C015;Q8TAV3 AACC02000129;ABBA01039315;AC073957;AK000366;AMYH01016946;BC025761;CH236965;CH471144;NG_007934;NM_017781 AAH25761;BAA91114;EAW87186;EAW87187;NP_060251;Q8TAV3 Hs.272795 MGC34287 CYPIIW1;OTTHUMP00000024500;OTTHUMP00000082705;cytochrome P450 2W1 APPROVED protein-coding ENSG00000073067 20243 07901 REVIEWED 1316685 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 p21.1-p11.2 48069986 48173038 - 46625404 46728482 - 46517445 46620523 - 1580863;6480464;6907045 10748047;15489334;15128046;12477932;11329013;19553612;20453000;21988832 51302 Q9NYL5 ABBA01050615;ABBA01050616;ABBA01050617;ABBA01050618;ABBA01050619;ABBA01050620;AF237982;AK292263;AK301604;AK307986;AL035670;AL591242;AMYH01016328;BC010358;BC012548;BC034323;BG199773;CH471081;DC336695;NG_007962;NM_001278738;NM_001278739;NM_016593 AAF63329;AAH10358;ABM83815;ABW03520;BAF84952;BAH13522;EAX04297;NP_001265667;NP_001265668;NP_057677;Q9NYL5 Hs.387367 1669671;1683683;1686410;1700184;2117845;2177960;5109663 D6S1333;D7S2067E;RH103707;RH46727;RH65181;RH99104;SGC31026 24-hydroxycholesterol 7-alpha-hydroxylase;OTTHUMP00000016547;cytochrome P450 39A1;cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1;hCYP39A1;oxysterol 7-alpha-hydroxylase;oxysterol 7alpha-hydroxylase APPROVED protein-coding ENSG00000146233 17449 07067 605994 REVIEWED 6480933 CYP46A4P cytochrome P450, family 46, subfamily A, polypeptide 4, pseudogene 1 48555025 48555306 + 100874494 ABBA01050808;AL356289;AMYH01000596;NG_032510 pseudo 42349 INFERRED 6480934 CYP4A43P cytochrome P450, family 4, subfamily A, polypeptide 43, pseudogene 100874495 AL731892 pseudo 42417 1352962 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2011] 7 7 q21.1 99192540 99219744 - 99354583 99381811 - 1580863;2316977;2316509;5129544;5135288;5685415;5685598;5685600;6480464;6907361;6907045 17353665;17253883;12971802;19733976;18566305;17576808;15180491;22170007 19727863;2492107;3460094;15256616;3259858;15546903;19219744;12493773;18446064;19506580;19505920;19474452;19470925;19453261;19433561;19424794;19420105;19414505;19395426;19376514;19356113;19350405;19349540;19343327;19343062;19343046;19339270;19337788;19332043;19282874;19258929;19242060;19239339;19232333;19228751;19228205;19225447;19214745;19206087;19143748;19127255;19103148;19077426;19076156;19074750;16109480;16103451;16079101;16059671;16006997;16004554;15981231;15932952;15931768;15901749;15900284;15900215;15896485;15882469;15820320;15817670;15801936;15778453;15770075;15770073;15731117;15713537;15708542;15708356;15707415;15698606;15684873;16130011;15650881;15634941;15622315;15618745;15611481;15592326;15548719;15540736;15523087;15496639;15496535;15475069;15469410;15462611;15459178;15454728;15379787;15370963;15334674;15307840;15277015;15260917;15258162;15128046;15114431;14742674;14697480;14693733;17007050;16985250;16981844;16954191;16924387;16909599;16906020;16890579;16890574;16862439;16842392;16771603;16765145;16758258;16711396;16684709;16645157;16633141;16608838;16580902;16538176;16507515;16467307;16434211;16414488;16338276;16321621;16314882;16306861;16299241;16267764;16243813;16207150;16172230;16146556;19070657;19064572;19027952;19020497;19005401;18996102;18989234;18981011;18981009;18979093;18978522;18957504;18936436;18854779;18825162;18794335;18784074;18781853;18768784;18704002;18688081;18636247;18632753;18619574;18569587;18566991;18551040;18528690;18518855;18509327;18496131;18433425;18431572;18408564;18394438;18385010;18382661;18356043;18348473;18332045;18309947;18294936;18294295;18268015;18258609;18240903;18231117;18223457;18217151;18211048;18192894;18163429;18097620;18092806;18058330;18052847;18028890;18021343;18004210;18004209;17992531;17985934;17974099;17965521;17952011;17925548;17925385;17922881;17919884;17919092;17918187;17912464;17900275;17880367;17854673;17827444;17827338;17766366;17764444;17724065;17704997;17701008;17697139;17691855;17635182;17634410;17624028;17622974;17615053;17609736;17605821;17601520;17582393;17555301;17548691;17548528;17545536;17526937;17526062;17502835;17498886;17495880;17495878;17495874;17465708;17460547;17460031;17434921;17433262;17429319;17418993;17409981;17392393;17373732;17372239;17367411;17364054;17363580;17357589;17352764;17296590;17279585;17270371;17224914;17220347;17200113;17178267;17162468;17119944;17118447;17083953;17065585;17047492;17042920;17015051;17014074;14681232;14660173;14643022;14640293;14580164;14515059;14515058;14504207;12975335;12969965;12966368;12960109;12900872;12900870;12867495;12809821;12747609;12738724;12732844;12695546;12692107;12690205;12644831;12623762;12569554;12532467;12485945;12477932;12464248;12446983;12439220;12419838;12202670;12151999;12147248;12142725;12130689;12107441;12072427;11991950;11956645;11940601;11907494;11890939;11876753;11875366;11809184;11782366;11749050;11745731;11726664;11714865;11549683;11470997;11266076;11181494;11161840;11137287;11067821;11051261;10933049;10668853;10322772;10222036;9890157;9456308;9088578;8269949;3898085;3464943;3267210;3243766;2463251;1391968;12756206;15319333;15039299;9394023;12756210;14690448;22369694;22108774;22510778;20583967;20615193;21169260;19801957;19913121;20529763;20530282;20578904;20588308;20602612;20602615;20621111;20625352;20628086;20630055;20634197;20654748;20679960;20682687;20685352;20715157;16324277;20118548;21402692;21471209;15327587;15365656;15680923;16401082;18669585;19406954;19451401;19460945;19480557;19538885;19546880;19560436;19571438;19574343;19575027;19576320;19626470;19636001;19651758;19659438;19667110;19692168;19696793;19712670;19752211;19761365;19762492;19773538;19784640;19797609;19802823;19812066;19823875;19833260;19842932;19846565;19865079;19907160;19921206;19926050;19934400;19934793;19937844;19956635;19963139;20007670;20012430;20017669;20027111;20031551;20038391;20068078;20088394;20136364;20147837;20147896;20171174;20173083;20212519;20213484;20214802;20218903;20235787;20338069;20350136;20354687;20361990;20386561;20389299;20395213;20403997;20437850;20453000;20459744;20490798;20505544;20523106;20526235;19591893;20863320;20697309;20847137;20538721;20849814;20879989;20642445;20812728;18364084;20538049;20617557;20350051;16344560;20734064;20809279;20833683;20861742;20884258;20931330;20959500;20970553;21047202;21063236;21071160;21072155;21072184;21081028;22517972;22617232;22621802;22645092;22696420;21342487;21380731;21199372;21402137;21177853;20951982;21207936;21223952;21292004;20841961;20656072;21412247;21798277;21114969;23290512;21863748;22076448;23107770;23264496;23295386;23557865;21767526;21493872;21433154;21566342;21902501;21902502;21952236;21992114;21186373;21209460;21903774;21940338;22101235;21916909;21964586;22990330;21998292;21925256;22699155;21963990;21996064;22050110;22096084;22157006;22194603;21886157;22292071;22472546;21605066;21692828;21750466;21835977;21838784;22562045;22094027;22106171;22388796;22728071;23143891;23223499;22277676;22333269;21081644;21988832;22971138;23361102;23090875;23334403;23179402;23146479;23277250;20604570;23129512;22677141;22741198;22763214;22885098;22773874;21513075;22945461;23320986;22906825 1576 C9JBD2;E7EVM8;P08684;Q6GRK0 AACC02000084;ABBA01013250;AC069294;AF182273;AF209389;AF280107;AF307089;AJ563375;AJ563376;AJ563377;AK298451;AK298462;AK312967;AMYH01017722;AY606313;BC069352;BC069418;BC101631;CH236956;CH471091;D00003;D11131;DA639071;DQ005611;DQ924960;J04449;M13785;M14096;M18907;NG_008421;NM_001202855;NM_017460;X12387 AAA35742;AAA35744;AAA35745;AAA35747;AAF13598;AAF21034;AAG32290;AAG53948;AAH69418;AAI01632;AAY16980;ABI96208;BAA00001;BAG35806;BAG60667;BAG60675;CAA30944;CAD91343;CAD91345;CAD91645;EAL23866;EAW76635;EAW76636;NP_001189784;NP_059488;P08684 Hs.728751 1646413;1646859;1649345;1667428;1797468;2119951;2134102 CYP3A4_2210;CYPNOA;D7S2832;D7S2874;RH68186;SHGC-16521;SHGC-36965 CP33;CP34;CYP3A;CYP3A3;CYPIIIA3;CYPIIIA4;HLP;MGC126680;NF-25;P450C3;P450PCN1 1,8-cineole 2-exo-monooxygenase;CYPIIIA3;CYPIIIA4;OTTHUMP00000210308;P450-III, steroid inducible;albendazole monooxygenase;albendazole sulfoxidase;cytochrome P450 3A3;cytochrome P450 3A4;cytochrome P450 HLp;cytochrome P450 NF-25;cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 3;cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4;cytochrome P450-PCN1;glucocorticoid-inducible P450;nifedipine oxidase;quinine 3-monooxygenase;taurochenodeoxycholate 6-alpha-hydroxylase APPROVED protein-coding 2637 00484 124010 REVIEWED 6480320 CYP4F10P cytochrome P450, family 4, subfamily F, polypeptide 10, pseudogene 19 p13.12 15774923 15778050 + 20379614 646575 ABBA01051121;AC122702;AD000685;AMYH01009555;NG_032152 pseudo 39943 INFERRED 1346597 CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. The enzyme also metabolizes some drugs such as aflatoxin B1. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Transcript variants have been described, but it is not known whether these transcripts are normally produced. This gene undergoes readthrough transcription with the downstream CYP3AP1 pseudogene, resulting in an isoform with a novel C-terminus, as represented in GeneID:100861540. [provided by RefSeq, Feb 2012] 7 7 q21-q22.1 99140596 99170757 - 99302660 99332819 - 1580863;6480464;6907045 19170196;19585271;19593168;19625176;19692168;19842932;20147896;20345875;9644715;2722762;19424794;19343046;19064572;18978522;18676680;18445661;17885626;17604264;17582393;17559345;17334880;16314882;16041241;15985487;15937338;15489334;15128046;12865317;12690205;12485945;12477932;11940601;11266076;11137287;11093772;10950848;9890157;8694864;7894497;2786707;2492179;1562592;15319333;19801957;20529763;20621111;20634891;20118548;20615193;20637317;12406645;14569421;15698577;16430309;16635807;17936930;18406467;18537580;19275551;22253426;22277676;23143891 1551 P24462 AACC02000084;ABBA01013250;ABBA01013251;AC069294;AF280107;AMYH01017722;BC067436;BC069780;BX643367;BX647143;CH236956;CH471091;D00408;NG_007983;NM_000765 AAG32289;AAH67436;BAA00310;EAL23867;EAW76637;NP_000756;P24462 Hs.111944 1646413;1667177;1769182 SHGC-16521;SHGC-33905;SHGC-35234 CP37;CYPIIIA7;P450-HFLA CYPIIIA7;OTTHUMP00000210472;OTTHUMP00000210473;aryl hydrocarbon hydroxylase;cytochrome P450 3A7;cytochrome P450, subfamily IIIA, polypeptide 7;cytochrome P450-HFLA;flavoprotein-linked monooxygenase;microsomal monooxygenase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000160870 2640 05630 605340 REVIEWED 730831 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. [provided by RefSeq, Jul 2008] 1 1 p33 47167433 47180004 - 47394846 47407156 - 1625451;1625567;1580863;6480464;6907045 12857783;16144986 7679927;8914854;8274222;19615687;19366684;19343046;18936345;18660489;18574070;18484194;18391101;18385420;18300855;18227405;16957555;15611369;15128046;15028279;12477932;12464262;12464261;11821421;11736898;11139583;10860550;10660572;10024026;9618440;8363569;1739747;15319333;7798189;18433732;19898482;20130494;21326303;23085321;18624398;21873888;21820496;9799565;21886157;21617944;22804341;22327816 1579 E7EU77;E7EVL8;Q02928 ABBA01050834;AF525488;AK298267;AK298413;AL731892;AMYH01000591;AY369778;BC022851;BC041158;CD014132;D13705;D26481;L04751;NG_007932;NM_000778;S67580;S67581;X71480 AAA58436;AAB29502;AAB29503;AAH41158;AAO16078;AAQ56847;BAA02864;BAA05491;BAG60530;BAG60640;CAA50586;NP_000769;Q02928 Hs.1645;Hs.726474 1668714;1674438;1724397;1742975;1761149 GDB:226298;RH122360;SHGC-145153;SHGC-74786;SHGC-74787 CP4Y;CYP4A2;CYP4AII 20-HETE synthase;20-hydroxyeicosatetraenoic acid synthase;CYPIVA11;OTTHUMP00000009714;OTTHUMP00000009715;P450HL-omega;alkane-1 monooxygenase;cytochrome P-450HK-omega;cytochrome P450 4A11;cytochrome P450, subfamily IVA, polypeptide 11;cytochrome P450HL-omega;fatty acid omega-hydroxylase;lauric acid omega-hydroxylase APPROVED protein-coding ENSG00000187048 2642 03201 601310 REVIEWED 1603864 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] 1 1 p33 47375694 47387113 + 47603107 47614526 + 6480464;6907045 15611369;15128046;12477932;12464262;20079672;10860550;21820496 284541 Q5TCH4;Q5TCH5 ABBA01050830;AF208532;AL135960;AMYH01000593;AY280371;AY280372;BC142607;BC142690;BC148248;NG_007937;NM_001010969 AAF76722;AAI42608;AAI42691;AAI48249;AAQ21367;AAQ21368;CAI19736;CAI19737;CAI19738;NP_001010969;Q5TCH4 Hs.726474 1674438;1742975 GDB:226298;SHGC-74787 CYPIVA22;OTTHUMP00000009560;OTTHUMP00000009561;OTTHUMP00000009562;cytochrome P450 4A22;cytochrome P450 4A22K;fatty acid omega-hydroxylase;lauric acid omega-hydroxylase APPROVED protein-coding 20575 16776 615341 REVIEWED 1348646 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 This gene,CYP3A5, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. The enzyme metabolizes drugs such as nifedipine and cyclosporine as well as the steroid hormones testosterone, progesterone and androstenedione. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. This cluster includes a pseudogene, CYP3A5P1, which is very similar to CYP3A5. This similarity has caused some difficulty in determining whether cloned sequences represent the gene or the pseudogene. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2010] 7 7 q21.1 99083753 99115557 - 99245813 99277621 - 1580863;5129544;5135288;5685603;5685614;6480464;6907045;6907361;7240710 12971802;19733976;20931330;16917230;22170007 2732228;19523815;19516253;19506580;19474452;19470925;19424794;19414633;19414505;19384264;19384171;19376514;19376366;19350405;19349540;19343327;19343046;19337788;19332043;19290795;19290787;19289993;19258929;19239339;19229255;19228751;19228205;19225447;19205682;19141860;19139162;19125240;19114346;19106084;19106083;19076156;19074750;19067682;19064572;19040121;19034006;19033450;19010156;19005461;19005401;18996102;18989234;18981009;18979093;18978522;18936931;18930278;18752284;18727922;18708991;18704002;18688081;18650247;18641551;18636247;18628519;18603015;18597650;18589174;18587567;18582803;18566991;18551040;18518855;18509645;18509328;18509327;18502461;18496131;18496128;18490434;18443548;18429967;18414696;18408564;18394438;18385991;18385010;18382661;18334918;18322448;18319058;18315894;18315786;18309947;18306354;18300941;18294295;18248681;18240903;18223457;18221820;18214455;18212618;18211618;18192894;18058330;18028890;18024866;18021343;17992026;17979523;17979504;17941052;17925548;17922881;17914095;17900275;17885626;17875118;17851225;17827141;17761709;17701008;17700595;17691921;17635182;17635181;17635176;17615053;17605821;17582393;17568575;17554244;17545536;17517050;17510208;17502835;17495881;17495880;17460031;17450472;17443134;17430486;17425754;17395652;17391324;17377957;17373732;17372036;17363580;17358097;17352764;17339868;17329995;17296590;17286792;17264302;17244352;17224914;17198275;17192769;17192506;17178267;17178265;17162466;17049128;17049058;17048977;17047492;17042920;17032130;17015051;16906020;16906018;16847425;16842392;16827636;16822233;16815317;16791115;16772608;16771603;16769602;16765147;16765145;16684709;16638864;16628701;16614106;16612333;16612255;16595916;16584389;16513443;16442753;16424824;16421475;16361630;16338276;16321621;16314882;16306861;16299241;16272955;16272171;16267764;16253141;16249748;16243813;16207150;16188140;16172230;16168193;16160620;16141800;16116487;16086282;16024008;16004554;15981231;15978331;15961978;15952872;15931768;15919447;15900284;15900215;15882469;15876487;15833928;15814280;15808586;15801936;15729180;15708542;15707415;15698606;15634941;15632378;15622315;15596575;15596297;15592326;15548719;15502717;15489334;15469410;15454734;15385835;15289787;15284534;15252010;15248218;15226679;15167702;15128046;15116055;15114431;14961555;14747421;14676821;14647405;14515059;14515058;14504207;12975492;12969965;12966368;12960109;12893984;12853948;12822676;12814460;12756511;12754175;12694732;12692107;12690205;12477932;12439220;12433824;12324482;12242601;12202670;12042671;21265876;22369694;22022918;11809184;11740341;11726664;11502729;11279519;11266076;11137287;10403825;10069460;9890157;9797707;9364212;9070608;8946469;8877031;8869826;8694864;8619884;8619878;11836601;8569713;8125298;8004129;7895614;7894497;7883227;7811260;7750548;2802615;15319333;21237140;21544031;21389905;20615193;19801957;19913121;20529763;20530282;20588203;20596503;20602615;20621111;20625352;20628086;20630055;20662624;20679960;20685352;20696882;20716514;20720558;20818295;20118548;14702039;15039299;19538885;19545678;19546880;19576320;19584153;19591893;19593168;19636001;19644155;19650988;19659438;19663817;19667110;19693007;19696793;19710077;19730841;19744012;19761365;19762492;19812606;19817997;19823770;19842932;19855314;19865079;19881258;19904021;19907160;19916993;19925383;19934793;19946748;20010459;20017669;20030680;20031551;20038391;20040338;20041908;20136364;20147896;20160155;20172323;20173083;20179710;20207952;20212519;20214802;20218903;20231858;20235787;20332423;20345875;20354687;20357698;20368718;20383212;20389299;20393454;20395213;20403997;20415563;20430047;20453000;20459744;20479955;20490798;20514078;20526235;8889549;20846929;20617557;20133509;20565970;20833683;20860463;20873239;20881953;20959405;20959500;20970553;20970601;20970628;20970643;21039054;21047202;21072155;21072184;21076384;21081028;21698374;22511346;22645092;22696420;23073208;21094796;21094797;21206424;21094057;21148251;21434577;21225912;22819265;23107770;23700791;22889968;23131698;23149441;23354298;23364483;23385102;21418106;21436775;21165655;21519338;22923690;21493872;21743379;21839244;21153923;21380731;21770725;21806386;21711429;21677300;21851254;21916909;21950641;21173786;21513075;21644845;22007612;21209234;21814220;22096084;22210422;22292071;21896346;22214815;21988832;23143606;22304537;22277678;23146466;23146479;23557865;22704849;22610055;23320986;23143891;23223499 1577 F5H4S0;P20815;Q7Z3N0 AA076026;AACC02000084;ABBA01013251;ABBA01013252;AC005020;AF280107;AF355801;AF355802;AF355803;AF355804;AJ563378;AJ563379;AK055879;AK223008;AK296205;AK299002;AK309166;AK313813;AMYH01017722;BC022298;BC025176;BC026255;BC033862;BX537676;BX648856;CH236956;CH471091;DQ680079;J04813;L26985;L35912;NG_007938;NM_000777;NM_001190484;NR_033807;NR_033808;NR_033809;NR_033810;NR_033811;NR_033812;X90579 AAA02993;AAB00083;AAG32288;AAH33862;AAK73689;AAK73690;AAK73691;AAS02016;ABG25922;ABM81669;ABM84839;ABM87801;ABW03289;BAD96728;BAG36549;BAH12282;BAH12923;CAD91347;CAD91647;CAD91649;CAD97807;EAL23868;EAW76638;EAW76639;EAW76640;EAW76641;EAW76642;NP_000768;NP_001177413;P20815 Hs.571258 1337499;1673475;1719171;2119951;2120055;2148288;2161343;5015613;7186369 D11S3059;D7S2874;D7S647;RH123304;RH45981;RH71343;SHGC-1891;SHGC-8697 CP35;CYPIIIA5;DKFZp686L16231;FLJ31317;P450PCN3;P450PCN3.;PCN3 CYPIIIA5;OTTHUMP00000210469;OTTHUMP00000210470;aryl hydrocarbon hydroxylase;cytochrome P-450;cytochrome P450 3A5;cytochrome P450 HLp2;cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5;cytochrome P450-PCN3;flavoprotein-linked monooxygenase;microsomal monooxygenase;niphedipine oxidase;xenobiotic monooxygenase APPROVED protein-coding ENSG00000106258 2638 05617 145500;605325 REVIEWED 5144711 CYP4F23P cytochrome P450, family 4, subfamily F, polypeptide 23, pseudogene 19 19 15571720 15592381 + 15674884 15695532 + 22491018;15128046 100422238 ABBA01051120;AC011492;AMYH01009555;NG_024224 1331582;5109114 D19S432;D19S551 pseudo 39944 INFERRED 1315314 CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008] 14 14 q32.1 99220508 99263391 + 100150755 100193638 + 1358575;1580863;6480464;6907045 12232784 10377398;19363267;19286353;19212968;19161969;19059217;18842294;18621681;18511756;17854420;17550732;17335784;16960449;16734927;16258842;16157450;16055229;16013913;15975088;15936520;15489334;15450677;15331159;15286456;15172102;15165699;15128046;15106838;15034781;14702039;14640697;12533085;12533083;22185844;12477932;12123847;11698143;11111082;9717719;21386929;20535486;20682755;19553612;19647891;20193040;20667828;21049985;22977134;20693622;21729100;22528464;23288837 10858 B4DHP8;G3V366;H0Y3G0;H0YJI0;H0YJU5;Q8N2B0;Q9Y6A2 AB209749;ABBA01048551;AF094480;AK090886;AK295216;AL136000;AL160313;AMYH01005998;AMYH01005999;BC022539;CH471061;NG_007963;NM_006668 AAD41244;AAH22539;BAC03539;BAD92986;BAG58210;EAW81678;NP_006659;Q9Y6A2 Hs.25121 1652767;1708740;1793430;5021872;5037552 D8S2279;PMC22064P1;RH78065;SHGC-81587;sY3084 CP46;CYP46 CH24H;OTTHUMP00000246265;OTTHUMP00000246266;OTTHUMP00000246267;cholesterol 24-hydroxylase;cytochrome P450 46A1;cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) APPROVED protein-coding ENSG00000036530 2641 04970 604087 REVIEWED 5144721 CYP4F25P cytochrome P450, family 4, subfamily F, polypeptide 25, pseudogene 9 q21.11 69477894 69478176 + 100288827 AMYH01021248;CR769776;NG_030091 pseudo 39949 INFERRED 1354190 CYP4F29P cytochrome P450, family 4, subfamily F, polypeptide 29, pseudogene 21 21 21 q11 395072 396269 + 14140850 14142047 - 15218979 15220176 - 10830953 54055 ABBA01057063;AL109748;AL163204;AMYH01012135;NG_000927 C21orf15;CYP4F3LP APPROVED pseudo 2647 INFERRED 736540 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Two transcript variants encoding slightly different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p34-p12 47037257 47057608 + 47264670 47285021 + 1300048;1580863;1626420;6480464 9310344 2574990;19343046;19074885;19040121;18713828;18660489;16344560;15499177;15128046;12837283;12477932;12142726;11767004;11737226;11669629;11062028;10768437;9498238;9493761;9364212;9202751;8889548;8694864;8313365;8125298;7894498;2298205;19913121;20628086;15006160;19898482;20379614;22675492 1580 E7EME6;E9PL36;E9PML0;F5H1Q8;F5H5Q6;F5H6F1;P13584;Q8IZB0 ABBA01050835;AF491285;AK225576;AK225578;AK300921;AK300941;AK307715;AK313170;AL356793;AL593856;AMYH01000588;AY064484;AY064485;AY064486;AY151048;AY151049;BC017758;BM977596;CH471059;DA380788;DQ518907;J02871;NG_007939;NM_000779;NM_001099772;X16699 AAA35712;AAH17758;AAL57719;AAL57720;AAL57721;AAM09532;AAN72311;AAN72312;ABF47106;ABM82936;ABM86125;BAG62553;BAG62570;CAA34672;EAX06888;EAX06889;EAX06890;EAX06891;NP_000770;NP_001093242;P13584 Hs.436317 1795666;5024545;5111076 CYP4B1_1569;D1S3259;D1S3695 CYPIVB1;P-450HP OTTHUMP00000009678;OTTHUMP00000009679;OTTHUMP00000009680;OTTHUMP00000237949;cytochrome P450 4B1;cytochrome P450, subfamily IVB, polypeptide 1;cytochrome P450-HP;cytochrome p450, subfamily 4b, polypeptide 1;microsomal monooxygenase APPROVED protein-coding ENSG00000142973 2644 00491 124075 REVIEWED 5144334 CYP4F24P cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene 19 19 19 p13.12 15768052 15788710 - 15732053 15751721 - 15870144 15890798 - 12477932;15128046 388514 ABBA01051122;ABBA01051123;AC004597;AC011537;AK297837;AK308750;AMYH01009555;BC092420;NR_033864 BAG60171 Hs.438274 pseudo ENSG00000267594 39945 VALIDATED 5144707 CYP4F34P cytochrome P450, family 4, subfamily F, polypeptide 34, pseudogene 13 13 386927 387716 - 19316052 19316841 - 100422247 ABBA01068530;AL391382;AMYH01004930;NG_024825 pseudo 39953 INFERRED 1606166 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15516166 15559962 + 15480336 15524128 + 15619336 15663128 + 6480464;7240710 18245815;16436457;16344560;15128046;12477932;10712205;21540472;21906983;22209317;10712223 126410 Q6NT55 ABBA01051116;ABBA01051117;ABBA01051118;ABBA01051119;AC011492;AI341068;AK096820;AMYH01009555;BC069351;BC093894;BC093896;CH471106;DA874258;NG_007987;NM_173483 AAH69351;AAH93894;AAH93896;BAC04868;EAW84484;NP_775754;Q6NT55 Hs.156452 1336040;1337320;1650357;2163724;2187288 D19S252;D19S566;G30939;RH11549;RH12471 ARCI5;FLJ39501;INLNE;LI3 cytochrome P450 4F22;cytochrome P450, family 2, subfamily E, polypeptide 2 homolog APPROVED protein-coding ENSG00000171954 26820 08256 604777;611495 REVIEWED 5490952 CYP4F35P cytochrome P450, family 4, subfamily F, polypeptide 35, pseudogene 18 p11.21 14337422 14342523 + 15128046 284233 ABBA01074053;AJ003450;AMYH01008856;AP005212;BC037172;NR_026756 Hs.607579 5112333 RH103540 pseudo ENSG00000265787 39954 INFERRED 5144710 CYP4F36P cytochrome P450, family 4, subfamily F, polypeptide 36, pseudogene 19 19 15885959 15902579 - 15988016 16004719 - 100422235 ABBA01051126;AC004791;AMYH01009558;NG_024156 2114410;7183829 SHGC-12532 pseudo 42407 INFERRED 1349925 CYP4F11 cytochrome P450, family 4, subfamily F, polypeptide 11 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15921026 15945078 - 15884181 15906326 - 16023180 16045676 - 1580863;6480464;6907045 10964514;18065749;15489334;15128046;15057824;14702039;12477932;9068972;19812349;20379614;8889548;20689807;21906983;21988832 57834 F8W978;Q9HBI6 ABBA01051126;AC005336;AC011517;AC020950;AF236085;AK125714;AK289424;AK309292;AL833940;AMYH01009558;BC016853;BM727421;BU180723;CH471106;DC345817;NG_008335;NM_001128932;NM_021187 AAC27731;AAG15889;AAH16853;ABM82393;ABM85576;BAF82113;CAD38795;EAW84511;EAW84512;EAW84513;EAW84514;EAW84515;NP_001122404;NP_067010;Q9HBI6 Hs.187393 1719805;2170048;5015810 G15996;GDB:182516;RH123595 CYPIVF11 cytochrome P450 4F11;cytochrome P450, subfamily IVF, polypeptide 11 APPROVED protein-coding ENSG00000171903 13265 07101 611517 REVIEWED 5144727 CYP4F59P cytochrome P450, family 4, subfamily F, polypeptide 59, pseudogene 9 9 p12 43017225 43023640 - 43031155 43031437 - 100132340 AL669942;NG_031982 pseudo 39947 INFERRED 5144622 CYP4F9P cytochrome P450, family 4, subfamily F, polypeptide 9, pseudogene 19 p13.12 16090615 16109825 - 11181995 100506916 ABBA01051126;ABBA01051127 1647523 D19S1162 pseudo 39940 MODEL 1351749 CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid; however, its physiological function has not been determined. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15680803 15704255 + 15644886 15668984 + 15783828 15807984 + 1580863;6480464 18065749;16344560;16303743;16112640;15128046;14702039;12975309;12477932;11162645;11162607;9068972;1116264;15548388;21906983 66002 E7ET51;F8VR75;F8VU50;F8VZP1;H0YIJ8;Q9HCS2 AB035130;AB035131;ABBA01051121;AC004523;AC122702;AK074412;AK075435;AK304138;AK304389;AL832171;AMYH01009555;AY008841;AY358977;BC034916;BC035350;CH471106;DB221158;DC418592;DR422336;NG_008336;NM_023944 AAC11543;AAG33247;AAH35350;AAQ89336;ABM81736;ABM84891;BAB18269;BAB18270;BAG52137;BAG65032;BAG65224;CAI46131;EAW84492;EAW84493;EAW84494;EAW84495;EAW84496;EAW84497;EAW84498;EAW84499;EAW84500;EAW84501;NP_076433;Q9HCS2 Hs.131459 F22329_1 CYPIVF12;OTTHUMP00000226793;OTTHUMP00000240810;cytochrome P450 4F12;cytochrome P450, subfamily IVF, polypeptide 12 APPROVED protein-coding ENSG00000186204 18857 07102 611485 REVIEWED 1347352 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008] 19 19 p13.12 15849834 15869884 - 15988834 16008884 - 70707;1580863;6480464;6907045 8424651 8026587;17474147;19578179;19545555;19343046;19300499;19297519;19279555;19270263;19207028;19097922;18971550;18787519;18662666;18574070;18391101;18250228;18235092;18065749;17341693;17284776;17142457;16733892;15489334;15128046;15057824;12736711;12477932;11715494;11162441;10860554;10660572;10492403;9618440;9068972;22534826;22528326;18433732;19741565;19794411;19957603;19958090;20072124;20130494;20149073;20182420;20227456;20421126;20442691;20499136;20504253;9799565;20861217;19913121;20553802;20555338;20628086;20653676;20833655;21063236;21084764;23013706;23132553;21127708;21150635;21475774;23215885;22855348;21883387;22437554;21562135;21906983;19297518;22188360;22393834;21729881;22484021;21625857;21887457;22198820;22452429;23018470;22854539;23281178;22549502 8529 B4DV75;K7EJ29;K7EK90;K7EPM0;K7EQI8;P78329 AB015306;ABBA01051126;AC004791;AC005336;AF221943;AF467894;AK290790;AK296200;AK300961;AK313705;AMYH01009558;BC067437;BC067438;BC067439;BC067440;CH471106;D26480;NG_007971;NM_001082;U02388 AAC27730;AAC50052;AAF86378;AAH67437;AAH67439;AAH67440;AAL67578;BAA05490;BAA75823;BAF83479;BAG58928;BAG62587;EAW84508;EAW84509;EAW84510;NP_001073;P78329 Hs.558423 2114410;7183829 SHGC-12532 CPF2 CYPIVF2;cytochrome P450 4F2;cytochrome P450, subfamily IVF, polypeptide 2;cytochrome P450-LTB-omega;leukotriene B4 omega-hydroxylase;leukotriene-B(4) 20-monooxygenase 1;leukotriene-B(4) omega-hydroxylase 1;leukotriene-B4 20-monooxygenase APPROVED protein-coding ENSG00000186115 2645 05112 604426 REVIEWED 5144441 CYP4F43P cytochrome P450, family 4, subfamily F, polypeptide 43, pseudogene 2 2 q21.1 130914811 130915504 - 131193235 131199254 - 15815621;15203218 646802 A6NCX1 AC132479;AMYH01011054;AMYH01011055;CD633730;NR_103761;XR_158978;XR_171332 A6NCX1 Hs.640308 CYP4F-se11[6:7:8];Uncharacterized protein C2orf14-like 1;cytochrome P450, family 4, subfamily F, polypeptide 43, pseudogene pseudo 39956 VALIDATED 1354200 CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] 1 1 1 p33 45820302 45871835 + 47305747 47356579 + 47533160 47583992 + 1580863;6480464 19090726;15797250;15128046;15059886;12975309;22841774;9068972;19473719 199974 Q86W10 ABBA01050830;ABBA01050831;ABBA01050832;AK292175;AL135960;AL450996;AMYH01000592;AMYH01000593;AY262056;AY358631;CH471059;NG_007967;NM_178134 AAI40383;AAI46467;AAO89257;AAQ88994;BAF84864;CAI19734;EAX06880;EAX06881;NP_835235;Q86W10 Hs.176588 1649058;1781694;1848137;2154835;5093224 A009J39;G32593;SHGC-155105;SHGC-74767;STS-T92928 CYP4A20 CYPIVZ1;OTTHUMP00000009713;cytochrome P450 4Z1 APPROVED protein-coding ENSG00000186160 20583 13111 REVIEWED 2293116 CYP4Z2P cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene 1 1 1 p33 45611282 45653449 - 47096493 47138734 - 47308767 47366147 - 6480464 15059886;14702039;15128046;16344560 163720 Q8N1L4 ABBA01050834;ABBA01050835;AK097373;AL356793;AL731892;AMYH01000588;AMYH01000589;AMYH01000590;AMYH01000591;AY262057;AY696295;DA998990;NR_002788 AAU10524;BAC05026;Q8N1L4 Hs.591431 1781694;2154835 SHGC-155105;STS-T92928 FLJ40054 pseudo ENSG00000154198 24426 VALIDATED 2302452 CYP51P2 cytochrome P450, family 51, pseudogene 2 13 13 13 q12.3 10370777 10374074 - 28195506 28195639 - 29295001 29298296 - 6480464 10978293;8809088 83530 ABBA01035723;AF196988;AF196989;AL359454;AMYH01004994;NG_002766;U40053 1680892;2119003;2218704 RH70626;RH71229;UniSTS:463011 pseudo 20251 INFERRED 1353889 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15622900 15637357 + 15587029 15601448 + 15726029 15740448 + 1580863;6480464 10405341;17353931;19343046;16344560;16112640;15789615;15128046;14702039;12464258;11448449;10791960;9068972;21281786;22228203 11283 P98187 ABBA01051120;AC093072;AD000685;AF133298;AI401776;AK096809;AK300478;AK300530;AK300539;AK314685;AMYH01009555;CH471106;DA871128;DA877298;DB329701;NG_008068;NM_007253 AAD49566;AAI46323;AAI56577;BAG37237;BAG62194;BAG62241;BAG62247;EAW84486;EAW84487;NP_009184;P98187 Hs.268554 1336040;1342299;1730735 D19S252;D19S253;D19S588 CPF8;CYPIVF8 cytochrome P450 4F8;cytochrome P450, subfamily IVF, polypeptide 8;flavoprotein-linked monooxygenase;microsomal monooxygenase APPROVED protein-coding 2648 08518 611545 REVIEWED 2302453 CYP51P1 cytochrome P450, family 51, pseudogene 1 3 3 3 p12.2 83598897 83602042 - 82937922 82939860 - 82854162 82857307 - 8809088 83528 ABBA01031063;AC107307;AMYH01013308;NG_001294;U36926 pseudo 20245 INFERRED 5144709 CYP51P3 cytochrome P450, family 51, pseudogene 3 6 6 149541388 149542795 + 148800489 148801896 + 100422264 ABBA01025699;AL033378;AMYH01016731;NG_025983 pseudo 41991 INFERRED 1345730 CYP4F30P cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene 2 2 q21.1 131154107 131154800 + 131437623 131443436 + 14702039;12477932;11230166 100132708 Q9H0H9 ABBA01012770;AC140481;AK093281;AL136789;AMYH01011078;AMYH01011079;BC069727;BC069809;NR_023391 CAB66723;Q9H0H9 Hs.734862 C2orf14;DKFZp434F1719;FLJ35962 APPROVED pseudo ENSG00000214081 25270 VALIDATED 1349362 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 19 19 p13.2 15612707 15632570 + 15751707 15771570 + 1580863;6480464;6907045 8486631;19343046;19138970;18577768;18065749;17980168;16380383;15128046;14715252;12709424;11461919;10409674;9539102;9068972;8026587;12477932;18566475;20047521;20237496;16344560;21666788;21906983;22706230 4051 K7EJZ8;Q08477 AB002454;AB002461;ABBA01051121;AD000685;AF054821;AK296761;AK296802;AK298675;AK303477;AK304200;AK316136;AMYH01009555;AY792513;BC136299;CH471106;D12620;D12621;DB184202;NG_007964;NM_000896;NM_001199208;NM_001199209 AAC08589;AAI36300;AAV40834;BAA02144;BAA02145;BAA25990;BAA25991;BAH12428;BAH12435;BAH12844;BAH13972;BAH14129;BAH14507;EAW84488;EAW84489;EAW84490;EAW84491;NP_000887;NP_001186137;NP_001186138;Q08477 Hs.106242 1341928;5022651;7183829 D11S2921;D19S244;SHGC-12532 CPF3;CYP4F;LTB4H CYPIVF3;cytochrome P-450;cytochrome P450 4F3;cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase);cytochrome P450-LTB-omega;leukotriene B4 omega hydroxylase;leukotriene-B(4) 20-monooxygenase 2;leukotriene-B(4) omega-hydroxylase 2;leukotriene-B4 20-monooxygenase APPROVED protein-coding ENSG00000186529 2646 03169 601270 REVIEWED 731278 CYP4X1 cytochrome P450, family 4, subfamily X, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. [provided by RefSeq, Jul 2008] 1 1 1 p33 45776425 45803552 + 47261827 47289010 + 47489240 47516423 + 625536;1580863;6480464 12176035 15797250;15489334;15128046;14702039;12975309;12477932;21890473 260293 Q8N118 ABBA01050832;ABBA01050833;ABBA01050834;AK091806;AK098065;AK131355;AL450996;AM040940;AMYH01000591;AY358537;BC028102;CH471059;NG_007966;NM_178033 AAH28102;AAQ88901;ABM82581;ABM82582;ABM85769;ABW03738;BAC03751;BAC05226;BAD18508;CAJ13826;EAX06882;EAX06883;EAX06884;NP_828847;Q8N118 Hs.439760 1676398;1795668 CYP4X1_1355;RH99198 CYPIVX1;MGC40051 CYPIVX1;OTTHUMP00000009712 APPROVED protein-coding ENSG00000186377 20244 13110 614999 REVIEWED 735270 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. [provided by RefSeq, Jul 2008] 8 8 q21.3 65671246 65873902 - 65508529 65711348 - 1580863;6480464;6907045;7240710 10588945;9802883;19439420;19343046;19187859;18790053;18676680;18331353;18252231;18055760;17680536;17467270;16630558;15751070;15698543;15181079;15128046;15007371;15003524;14521990;12721789;12477932;9559267;7987300;19913121;20628086;18855023;19170196;19363635;19625176;19687010;19692168;19732851;21214876;21452256;21567895;21890473;21541746;22174851;23180418;23393555;23400010 9420 O75881;Q05C57 ABBA01041852;ABBA01041853;ABBA01041854;AC090136;AC104232;AC104939;AF029403;AF127089;AF127090;AF176805;AMYH01018764;AMYH01018765;AMYH01018766;BC029155;BC136574;CH471068;NG_008338;NM_004820 AAC95426;AAD20021;AAH29155;AAI36575;AAK11850;EAW86877;NP_004811;O75881 Hs.667720 1337894;1722733;1755019;1755991;1768170;1773848;1797470 CYP7B1_2190;D8S1173;D8S544;G60304;SHGC-141962;SHGC-142808;SHGC-58037 CBAS3;CP7B;SPG5A 25-hydroxycholesterol 7-alpha-hydroxylase;OTTHUMP00000226589;cytochrome P450 7B1;cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1;cytochrome p450, subfamily 7b, polypeptide 1;oxysterol 7-alpha-hydroxylase;oxysterol 7alpha-hydroxylase APPROVED protein-coding ENSG00000172817 2652 04753 270800;603711;613812 REVIEWED 1312886 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008] 4 4 q35.2 187349668 187371606 + 187112674 187134617 + 6480464;7240710 19278955;18349091;17962476;17249554;17013694;16186368;16179904;16088246;15860296;15489334;15128046;15042513;14702039;12975309;12477932;11001583;19583818;19661213;20205591;20379614;19508456;16030350;21540472;21565171;22605929;21385027;21850171;21988832;21892605;22693542;22497028;23221965;22916037 285440 Q6UWV9;Q6ZWL3 AA918796;ABBA01070554;AC110771;AK022114;AK122600;AK126473;AK311390;AMYH01014782;AY358619;AY422002;BC035933;BC038095;BC041839;BC048253;BC060857;BX648537;BX648730;CH471056;FJ440682;NG_007965;NM_207352 AAH41839;AAH60857;AAQ88982;AAR31180;ACK44069;ADZ15572;BAC85487;BAC86562;EAX04624;NP_997235;Q6ZWL3 Hs.587231 1335451;1689045;1689873;1770151;2143085;2145106;2176196;5022588;5022649;5037552 D11S2875;D4S2299;D5S1597E;D8S2279;G33554;RH92409;RH98214;SHGC-37162;SHGC-59696;SHGC-59712 BCD;CYP4AH1;FLJ18432;MGC43534 OTTHUMP00000218110;cytochrome P450 4V2 APPROVED protein-coding 23198 16777 210370;608614 REVIEWED 736649 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008] 3 3 3 p22.1 42851598 42855548 - 42888688 42892637 - 42913684 42917633 - 1300048;1580863;6480464;6907045 10051404;18660489;17585019;16937432;15891895;15489334;15249218;15128046;12477932;11535594;19898482;22093981 1582 C9JFR9;Q9UNU6 ABBA01024762;AC099329;AF090318;AF090320;AK310784;AMYH01013115;BC067434;BC067441;BC067442;BC067443;BC067444;CH471055;NG_007970;NM_004391 AAC63037;AAD19877;AAH67434;AAH67441;AAH67442;AAH67444;EAW64682;NP_004382;Q9UNU6 Hs.447793;Hs.722743 1787782;1797472;2174075;5037552 CYP8B1_1900;D8S2279;SHGC-173157;SHGC-76869 CP8B;CYP12;FLJ17826 7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase;7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase;7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase;CYPVIIIB1;OTTHUMP00000164042;cytochrome P450 8B1;cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1;sterol 12-alpha-hydroxylase APPROVED protein-coding ENSG00000180432 2653 03705 602172 REVIEWED 1606435 CYS1 cystin 1 2 2 2 p25.1 10113148 10122388 - 10116317 10137989 - 10196926 10220538 - 6480464;7175541 11854326 14702039;12733055 192668 Q717R9 ABBA01015601;ABBA01015602;AC104794;AF544983;AK091299;AMYH01010099;AW298291;BE907159;CH471053;DB559824;NM_001037160 AAI48589;AAI56922;AAQ11748;EAX00971;NP_001032237;Q717R9 Hs.27092;Hs.720471 1766595;2121305;2124160;2143205;2185196 G19152;RH47577;RH48834;SHGC-149902;SHGC-24187 FLJ33980 OTTHUMP00000200386;cilia-associated protein;cystin-1 protein-coding ENSG00000205795 18525 18744 VALIDATED 69210 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010] 8 8 q11-q12 59565292 59575275 - 59402737 59412720 - 1580863;1300048;6480464;6907045 2384150;19343046;19185005;19018779;18996102;18728290;18728123;18665040;18660489;18385139;18307386;18270374;18178499;18078817;17920062;17680536;16937432;16917677;16892178;16763159;16709249;16630139;16115473;15910869;15805302;15796896;15752749;15736936;15707388;15640003;15489334;15333704;15262185;15241483;15205472;15133863;15128046;14762172;14592954;14522988;14515446;12865425;12815072;12810154;12721789;12554795;12477932;12213890;12202481;12116231;12093894;12093884;12011083;11907135;11257258;10882719;10359768;9559267;8504159;8439551;8020987;7288293;1610352;1358792;1312351;19537927;20578904;20602615;20686565;19448895;19463968;19558216;19598235;19850125;19956635;19965590;20005541;20031551;20235787;20403997;20351063;20872969;20717043;21039385;20857261;21147774;23038264;22607622;20884100;23458092;21346769;21902813;22058145;21813643;22235657;22713451 1581 P22680 ABBA01041788;ABBA01041789;AC009927;AMYH01018743;BC101777;BC112184;CH471068;L04634;L13460;M89647;M89803;M93133;NG_007969;NM_000780;X56088 AAA58423;AAA58435;AAA61350;AAI01778;AAI12185;CAA39568;EAW86811;NP_000771;P22680 Hs.1644 1645470;1673585;1792110;1794750;1795672;5120231 CYP7A1_433;GDB:213610;PMC137182P1;PMC357015P1;RH17754;SHGC-35322 CP7A;CYP7;CYPVII;MGC126826;MGC138389 OTTHUMP00000226411;cholesterol 7-alpha-hydroxylase;cholesterol 7-alpha-monooxygenase;cytochrome P450 7A1;cytochrome P450, subfamily VIIA polypeptide 1 APPROVED protein-coding ENSG00000167910 2651 00324 118455 REVIEWED 1345262 CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 7 7 q21.2 91579402 91601946 - 91741463 91764059 - 1580863;2316868;2316857;2316902;6480464 12668600;16876788;7581240 8619637;18676367;18660489;16344560;15611056;15489334;15128046;14702039;12853948;12690205;12477932;12145339;11678326;8975714;19322201;8845856;8809088;8797093;8024575;12824470;20149798;20547249;21139048;21890473;21906983;21987572;22180046;21963094;21988832;22053931;23000965 1595 C9IYR8;H7C0D0;Q99868 AACC02000014;ABBA01045811;AC000120;AK295932;AK314205;AMYH01017689;BC018429;BC032322;CH236949;CH471091;D55653;DA349400;DC376300;NG_007968;NM_000786;NM_001146152;U23942;U51684;U51685;U51686;U51687;U51688;U51689;U51690;U51691;U51692 AAB39951;AAB46356;AAC50951;AAH18429;AAH32322;ABM82237;ABM85421;BAA09512;BAG36881;BAG58717;EAL24154;EAW76858;EAW76859;NP_000777;NP_001139624;Q16850 Hs.417077 1711476;1795670;5015619;5016781;5020635;5113111;5113754 CYP51A1_1811;D11S3114;D7S3207;G49195;RH68507;RH79131;SHGC-67307 CP51;CYP51;CYPL1;LDM;P450-14DM;P450L1 CYPLI;OTTHUMP00000161775;OTTHUMP00000208817;cytochrome P450 51A1;cytochrome P450, 51 (lanosterol 14-alpha-demethylase);cytochrome P450-14DM;cytochrome P45014DM;cytochrome P450LI;lanosterol 14-alpha demethylase;lanosterol 14-alpha-demethylase;sterol 14-alpha demethylase APPROVED protein-coding ENSG00000001630 2649 03381 601637 REVIEWED 731720 CYR61 cysteine-rich, angiogenic inducer, 61 The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011] 1 1 p22.3 85819048 85821978 + 86046444 86049650 + 1580863;734995;6480464 12446788 20237132;22025384;22401280;9135077;19288017;19244129;19180570;19147534;19007976;18950845;18941464;18936953;18819928;18800188;18687805;18599605;18575751;18381294;18212329;18202125;18089610;18058471;18025257;18004727;17765657;17718860;17699553;17673559;17626014;17601910;17437852;17429007;17234971;17056474;16877350;16804865;16675545;16581771;16344560;16243794;15961723;15878827;15782120;15592521;15564459;15526358;15489334;15471875;15389821;15077166;15053922;15044605;15044484;15041728;14988385;14702039;12939282;12899698;12831056;12826661;12736251;12477932;12444554;12374462;12364323;12217894;12036876;11840342;11810026;11751417;11600415;11584015;11287419;11120741;10852911;10821835;10446209;9600969;9536281;9528960;9488038;9446626;22527715;22532143;22056874;22253074;22551568;8635876;8125298;17579708;19364818;19542562;19584265;19632997;19950293;20010302;20043874;20056838;20097175;20233866;20237496;21232118;20641097;20195466;20531301;20628624;21159247;21081514;21153366;21249313;21312266;21138874;21212405;21349946;21393426;21397653;21447598;21628462;22752926;23045290;21995436;20360068;21711965;17314511;21618249;23027863;22023263;21601497;21488975;22547695;21139048;17361185;22540002;22160564;22363611;23141184;23316072;21505992;21963094;23259998;22692860;23504324;21976359;23667531;22566095;22694338;22797925;23196056 3491 O00622;Q6FI18 ABBA01045637;AC092807;AF003114;AF003594;AF031385;AF307860;AK096420;AK223385;AK295430;AK314571;AL832891;AMYH01000754;AY443495;BC001271;BC009199;BC016952;BP387218;CH471097;CR536519;DA764894;NM_001554;U62015;Y11307;Y12084;Z50168;Z97068;Z98053 AAB58319;AAB61240;AAB84227;AAF21597;AAG59863;AAH01271;AAH09199;AAH16952;AAR05446;ABM82188;ABM85375;BAD97105;BAG37152;BAG58373;CAA72167;CAA72802;CAB09804;CAB10848;CAG38757;EAW73196;EAW73197;EAW73198;NP_001545;O00622 Hs.8867 2164934 D1S3544 CCN1;GIG1;IGFBP10 CCN family member 1;IBP-10;IGF-binding protein 10;IGFBP-10;OTTHUMP00000012303;cysteine rich protein 61;cysteine-rich heparin-binding protein 61;cysteine-rich, anigogenic inducer, 61;insulin-like growth factor-binding protein 10;protein CYR61 APPROVED protein-coding ENSG00000142871 2654 09089 602369 REVIEWED 1603605 CYSTM1 cysteine-rich transmembrane module containing 1 5 5 5 q31.3 135630466 135700049 + 139534837 139603558 + 139554653 139623374 + 6480464 12477932;8889548;17207965;8125298;22939629;19933165;21139048 84418 Q9H1C7 ABBA01026436;ABBA01026437;ABBA01026438;ABBA01026439;AC011379;AC011380;AJ245877;AK225992;AK312045;AMYH01015655;BC013643;BC023982;BM919999;CA310907;CH471062;NM_032412 AAH13643;AAH23982;ADQ32230;CAC21572;EAW62073;EAW62074;NP_115788;Q9H1C7 Hs.529798 1665686;1772749;2159706 D5S1867;RH41916;SGC33030 C5orf32;ORF1-FL49 OTTHUMP00000159548;UPF0467 protein C5orf32;cysteine-rich and transmembrane domain-containing protein 1;hypothetical protein LOC84418;putative nuclear protein ORF1-FL49 APPROVED protein-coding 30239 15091 VALIDATED 1352313 CYSLTR2 cysteinyl leukotriene receptor 2 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008] 13 13 q14.2 48178952 48181499 + 49280951 49283498 + 1580863;4781445;4783198;5144003;5143997;5144004;4888517;5144000;5144002;6480464;6484113 20497024;16689996;15454733;15328359;21664436;18490405;15970796;15475736 15545522;10913337;19450127;19264973;19247692;19131661;18946233;18779380;18366797;18048362;17991613;17941281;17460547;17404310;16771777;16606835;15696087;15489334;15057823;14515063;13679572;12816881;12477932;12100046;12044878;11696047;11093801;10851239;1085123;19913121;20628086;19840403;20966037;16754659;20433311;21203429;21352274;21753081;22194989;22634478 57105 Q5KU17;Q9NS75 AB038269;AB041644;AB041947;AB083603;ABBA01051009;AF254664;AF279611;AK291739;AL137118;AMYH01005104;AY389504;AY853711;BC069160;BC096832;CH471075;CS251127;EF141523;EF141524;EF141525;EF141526;EF141527;EF141528;EF141529;EF141530;NM_020377 AAG17281;AAH69160;AAH96832;AAK69485;AAQ91330;AAW47925;ABO61874;ABO61875;ABO61876;ABO61877;ABO61878;ABO61879;ABO61880;ABO61881;BAB03601;BAB16379;BAB89316;BAD83598;BAF84428;CAJ58194;EAX08802;NP_065110;Q9NS75 Hs.253706;Hs.614318 2218456;5494011 CYSLTR2_4569;UniSTS:480719 CYSLT2;CYSLT2R;GPCR;HG57;HPN321;KPG_011;PSEC0146;hGPCR21 G protein-coupled receptor;G-protein coupled receptor GPCR21;G-protein coupled receptor HG57;OTTHUMP00000018401;cysteinyl leukotriene CysLT2 receptor;cysteinyl leukotriene receptor 2 APPROVED protein-coding ENSG00000152207 18274 09293 605666 REVIEWED 732524 CYSLTR1 cysteinyl leukotriene receptor 1 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR2. This encoded receptor is a member of the superfamily of G protein-coupled receptors. Activation of this receptor by LTD4 results in contraction and proliferation of smooth muscle, oedema, eosinophil migration and damage to the mucus layer in the lung. [provided by RefSeq, Jul 2008] X X q13.2-q21.1 77414786 77469743 - 77528130 77583087 - 1580863;734996;4784257;4847792;4843543;4848936;4781441;4781446;4889116;4843953;4847129;4888517;4781449;4846883;4847512;4848616;4888514;4888515;4781453;4781742;4782072;4888516;4889117;4781451;4848274;4783198;4888512;6480464;6484113 11932261;16630147;14970333;16387808;11591188;20959046;18790177;16771777;16337014;16123393;18490405;17689528;16238585;15379985;12487226;8087328;2825489;17499745;17153879;16776674;18946234;16739673;17627772;12910720;16689996;11325876 22527886;10391245;19524426;19454674;19450127;19258923;19214143;19131661;19080797;19064572;18829683;18651869;18571838;18379861;18366797;18323532;18305014;18028998;17941281;17924829;17909024;17883728;17703412;17641958;17558309;17549353;17460547;17406065;17392478;16846449;16809637;16293801;16210619;15772651;15705869;15696087;15590629;15489334;15064240;14749922;14702039;12859443;12751768;12751740;12743568;12682264;12512030;12477932;12373000;12100046;11696047;11438743;11322876;11141472;10462554;19913121;20462748;20628086;16754659;19733299;20003473;20503287;20433311;21203429;21596548;21936770;23181793;22871757;22634478 10800 Q38Q91;Q9Y271 ABBA01030082;ABBA01030083;ABBA01030084;ABBA01030085;ABBA01030086;ABBA01030087;ABBA01030088;ABBA01030089;ABBA01030090;ABBA01030091;ABBA01030092;AF119711;AF133266;AK023929;AK313643;AL445202;AMYH01022635;AY242130;BC035750;CH471104;DQ131799;DQ131800;DQ131801;DQ131802;DQ131803;JA738689;NG_012809;NM_006639 AAD42285;AAD42778;AAH35750;AAO92297;ABA01563;ABA01564;ABA01565;ABA01566;ABA01567;ABM81873;ABW03343;BAG36401;CCF76997;EAW98598;EAW98599;NP_006630;Q9Y271 Hs.733809 2109213;2135817;5020242;5020423;5115198;5118412;5118618 AFM328YE9;CYSLTR1_9181;D11S1053;D11S2442;D11S2612;D11S3270;D11S3485 CYSLT1;CYSLT1R;CYSLTR;HG55;HMTMF81;MGC46139 G-protein coupled receptor HG55;LTD4 receptor;OTTHUMP00000023596;cysteinyl leukotriene D4 receptor;cysteinyl leukotriene receptor 1 APPROVED protein-coding 17451 02188 300201 REVIEWED 736054 CYTH1 cytohesin 1 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. The encoded protein is 83% homologous to that of CYTH2. [provided by RefSeq, Aug 2008] 17 17 q25 74181725 74289971 - 76670130 76778376 - 1580863;6480464;6484113 9614087;9050849;11867758;12606567;1511013;15778383;15489334;14702039;12477932;12052827;11438522;10835351;10772823;10748148;10652308;10341214;10212218;10092663;9756891;9693361;9653114;9110174;8706128;8619474;8449036;9765275;12920129;17398095;17321526;19346499;20018626;21511340;22815959;21628335;22558309;21139048 9267 B7Z1T4;K7EJN5;K7EKA2;K7EL72;K7ENH6;K7ENQ8;K7ERV8;Q15438 ABBA01002915;ABBA01002916;ABBA01002917;AC022966;AC099804;AF054997;AF125362;AK091369;AK123894;AK293894;AK296914;AK307917;AK316075;AK316277;AMYH01008674;BC038385;BC050452;CH471099;M85169;NM_004762;NM_017456 AAA36602;AAF37737;AAF37738;AAH38385;AAH50452;ACE86875;ACE87563;BAG59469;BAH11620;BAH14446;BAH14648;EAW89530;EAW89531;EAW89532;NP_004753;NP_059430;Q15438 Hs.191215 1645280;1678781;1778822;2125705;2128646;2180312 G15943;G33144;RH64854;RH79076;SHGC-33563;SHGC-64299 B2-1;CYTOHESIN-1;D17S811E;FLJ34050;FLJ41900;PSCD1;SEC7 OTTHUMP00000196778;OTTHUMP00000196779;PH, SEC7 and coiled-coil domain-containing protein 1;SEC7 homolog B2-1;cytoadhesin 1;cytohesin-1;homolog of secretory protein SEC7;pleckstrin homology, Sec7 and coiled-coil domains 1;pleckstrin homology, Sec7 and coiled-coil domains 1(cytohesin 1);pleckstrin homology, sec7 and coiled/coil domains 1 APPROVED protein-coding ENSG00000108669 9501 01630 182115 REVIEWED 1351161 CYTL1 cytokine-like 1 C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008] 4 4 4 p16-p15 4913525 4918414 - 5067214 5072098 - 5016313 5021197 - 737633;6480464 12477932 10857752;15489334;15340161;12975309;22011669;21503106;22613542;21322034;21799806 54360 H0Y8Q4;H0Y9X7;Q9NRR1 ABBA01008254;AC108139;AF193766;AF274956;AMYH01013904;AY359101;BC031391;CH471131;HA640597;NM_018659;T83161 AAF73372;AAH31391;AAK07531;AAQ89459;ABM81716;ABM81718;ABM84872;CAZ39552;EAW82418;NP_061129;Q9NRR1 Hs.13872 2149396 SHGC-33462 C17;C4orf4 OTTHUMP00000155130;OTTHUMP00000217283;cytokine-like protein 1;cytokine-like protein C17 APPROVED protein-coding ENSG00000170891 24435 16260 607930 VALIDATED 1354363 CZP2 cataract, zonular pulverulent 2 1598 2659 1348510 CYTH3 cytohesin 3 This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008] 7 7 p22.1 6167935 6278767 - 6201410 6312242 - 1580863;6480464;6484113 9707577;9742223;18084281;16189514;15878955;15489334;14702039;12853948;12690205;12477932;10828067;10652308;9072969;12920129;11445584;12606567;17398095;22454518;21932773;21139048 9265 B7Z2V9;O43739 AACC02000121;ABBA01029359;AC004895;AC009412;AC092439;AJ005197;AJ223957;AK023609;AK295163;AK313728;AMYH01017032;AMYH01017033;AMYH01017034;BC008191;BC028717;BG620295;CB988199;CH236963;CH878731;NG_029882;NM_004227 AAH08191;AAH28717;AAS07510;ABM82662;ABM85838;ABW03411;BAG36470;BAH11995;CAA06434;CAA11686;EAL23717;EAW55046;NP_004218;O43739 Hs.487479 1649347;1663197;1699584;1750993;1786374;1788276;2108405;2139340;2187450;5019705 A009H19;Cda0ia03;D7S3123;G32542;GDB:1317150;PSCD3_8919;RH103393;SHGC-104885;SHGC-171945;STS-W02789 ARNO3;GRP1;PSCD3 ARF nucleotide-binding site opener 3;OTTHUMP00000115876;PH, SEC7 and coiled-coil domain-containing protein 3;cytohesin-3;general receptor of phosphoinositides 1;pleckstrin homology, Sec7 and coiled-coil domains 3;pleckstrin homology, Sec7 and coiled/coil domains 3 APPROVED protein-coding ENSG00000008256 9504 05469 605081 REVIEWED 737071 CYTH2 cytohesin 2 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 19 19 q13.33 53664424 53674457 + 48972465 48985571 + 1580863;6480464;6484113 17786213;9417041;14654833;16415858;17474147;17623778;17398095;16484220;16189514;16027149;15489334;15277685;14702039;12920129;12641750;12477932;12438709;12052827;11850456;11533043;10806099;10801341;10748148;10708517;10652308;10531036;9925920;9550703;9510256;9476900;9050849;8945478;8706128;10198630;22341462;15778465;20153292;20936779;12606567;20016009;20525696;21118813;21307348;22454518;21139048;18094045;21900206;22002459;23095975;23255605;23000965;23288846 9266 F8W8E2;G5E9B7;J3KQA6;M0R2J0;Q99418 AB209573;ABBA01032990;AC008403;AF318380;AK091443;AK292405;AK299590;AMYH01009902;BC004361;BC012771;BC035646;BC036615;BC038713;BC042153;BC047631;CH471177;DC344850;NM_004228;NM_017457;U59752;U70728;X99753 AAB09591;AAB17532;AAH04361;AAH38713;AAL55887;ABM83491;ABM87855;BAD92810;BAF85094;BAG61522;CAA68084;EAW52349;EAW52350;EAW52351;NP_004219;NP_059431;Q99418 Hs.144011 2127067;2168161;5015619;5092722 A005S30;D11S3114;G32287;STS-U59752 ARNO;CTS18;CTS18.1;PSCD2;PSCD2L;SEC7L;Sec7p-L;Sec7p-like ARF exchange factor;ARF nucleotide-binding site opener;OTTHUMP00000196753;OTTHUMP00000196754;PH, SEC7 and coiled-coil domain-containing protein 2;cytohesin-2;pleckstrin homology, Sec7 and coiled-coil domains 2;pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2);pleckstrin homology, Sec7 and coiled-coil domains 2-like;pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2);pleckstrin homology, sec7 and coiled/coil domains 2 APPROVED protein-coding ENSG00000105443 9502 03925 602488 REVIEWED 1345777 CYTH4 cytohesin 4 The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with both ARF1 and ARF5 but is inactive with ARF6. The structures of this gene and CYTH1 are very similar. [provided by RefSeq, Aug 2008] 22 22 22 q12.3-q13.1 21479377 21512272 + 36008370 36041328 + 37678495 37711389 + 1580863;6480464 10652308;18084281;15489334;15461802;15342556;15302935;14702039;12477932;10591208;8593609;12920129;20379614;17398095 27128 B1AHH4;B1AHH5;B1AHH6;H0Y724;Q9UIA0 ABBA01055464;AF075458;AF125349;AK002145;AK024428;AK304453;AK315052;AMYH01012753;BC017780;BC033693;BC041161;BP306826;CH471095;CR456551;NM_013385;Z94160 AAF15389;AAF28896;AAH17780;AAH41161;BAA92107;BAB15718;BAG37529;BAG65270;CAG30437;CAK54582;CAK54881;EAW60154;EAW60155;EAW60156;NP_037517;Q9UIA0 Hs.170944 1675459;1678245;2124042;2175764;5015619 AL021672;D11S3114;HSCZSD102;RH11303;RH15766 CYT4;DJ63G5.1;PSCD4 OTTHUMP00000197834;PH, SEC7 and coiled-coil domain-containing protein 4;cytohesin-4;pleckstrin homology, Sec7 and coiled-coil domains 4;pleckstrin homology, Sec7 and coiled/coil domains 4 APPROVED protein-coding ENSG00000100055 9505 07354 606514 REVIEWED 1314563 DAAM2 dishevelled associated activator of morphogenesis 2 6 6 6 p21.2 41314047 41425869 + 39868771 39980619 + 39760159 39872653 + 1580863;6480464;6907045 14574404;12632087;12477932;11779461;9205841;1538749;19562778;20010834 23500 F2Z2Q2;Q86T65 AB002379;ABBA01050773;AK310941;AL136089;AL161439;AL357412;AL590999;AL592158;AL596701;AL833083;AMYH01016289;AW273797;BC014275;BC047555;BC047575;BC078153;BC128388;BX647839;CH471081;FO393411;M78573;NM_001201427;NM_015345 AAH78153;ACE86663;ACE87347;BAA20835;CAD89973;CAI20010;EAX03995;EAX03996;NP_001188356;NP_056160;Q86T65 Hs.357128 1340539;1717135;1739543;1753689;1779206;1786736;1847151;2217246;7183774 D6S1516;D6S1641;DAAM2_3802;RH121488;RH78586;SHGC-107622;SHGC-152785;SHGC-155114 KIAA0381;MGC90515;RP1-278E11.1;dJ90A20A.1 OTTHUMP00000016351;OTTHUMP00000180661;disheveled-associated activator of morphogenesis 2;dishevelled-associated activator of morphogenesis 2 protein-coding ENSG00000146122 18143 09434 606627 VALIDATED 1317500 CYTIP cytohesin 1 interacting protein The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008] 2 2 q11.2 157979377 158008850 - 158271131 158300604 - 1580863;6480464 12477932;11867758;12606567;17577583;16702224;16344560;15815621;15489334;12052827;10343115;8241278;18029348;20379614;18926288;20530790;17207965;21562043;23223005 9595 B4DWH9;C9JNN8;C9JRF8;C9JSM2;F8WF61;O60759 ABBA01004846;ABBA01004847;AC019201;AF068836;AK301544;AK312753;AMYH01011196;BC036449;CD642163;CH471058;DB219691;L06633;NM_004288 AAA16575;AAC19129;AAH36449;AAY14898;ADQ32297;BAG35620;BAG63041;EAX11447;NP_004279;O60759 Hs.270 1337466;2118476;2142868 D2S2564;D2S418;RH68990 B3-1;CASP;CYBR;CYTHIP;HE;PSCDBP OTTHUMP00000162805;cbp HE;cytohesin binder and regulator;cytohesin binding protein HE;cytohesin-1 interacting protein;cytohesin-associated scaffolding protein;cytohesin-binding protein HE;cytohesin-interacting protein;pleckstrin homology Sec7 and coiled-coil domains-binding protein;pleckstrin homology, Sec7 and coiled-coil domains, binding protein;pleckstrin homology, Sec7 and coiled/coil domains, binding protein APPROVED protein-coding ENSG00000115165 9506 09192 604448 REVIEWED 1354035 CYYR1 cysteine/tyrosine-rich 1 21 21 21 q21.2 13021968 13129017 - 26760399 26867452 - 27838528 27945581 - 1580863;6480464 17442112;15489334;14702039;12477932;12062809;12036297;10830953;8125298;22837378 116159 A8MTU9;B7Z8X4;Q96J86 ABBA01057221;AF401639;AK054581;AK223576;AK304124;AK313231;AL833200;AMYH01012178;AP001596;AP001597;AY061853;BC036761;CH471079;NM_052954 AAH36761;AAK84158;AAL35737;BAB70764;BAD97296;BAG36042;BAH14110;CAI46188;EAX09953;EAX09954;NP_443186;Q96J86 Hs.743438 1684453;1696318;1717223;1854582;2122001;2126028;2127621;2141356;2146234;2175871;2177730;5093748 A009W01;D21S1435;D8S2318;G32900;RH122026;RH94295;SHGC-34382;SHGC-34785;SHGC-53254;SHGC-77741;SHGC-87513;STS-H57961 C21orf95 OTTHUMP00000096356;OTTHUMP00000096357;cysteine and tyrosine-rich 1;cysteine and tyrosine-rich protein 1;proline-rich domain-containing protein protein-coding ENSG00000166265 16274 VALIDATED 1353804 DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 p32-p31 57236167 58488799 - 57463579 58716211 - 1358468;1580863;2317783;2317973;6480464;6484113;7240710 12764038;17314278;15820235 19116273;18519826;18089558;18008369;17974915;17548821;17062576;16951405;16481437;15883038;15718228;15175076;15062102;14961563;14702039;14578885;12834112;12646221;22394407;12606711;12581169;12477932;12446734;12077184;11812785;11716507;11279201;11137154;10959835;10827173;10460257;10380922;10373567;9837937;9790777;9716537;11967127;12508107;18076569;19913121;20600896;20628086;19853035;20041166;20379614;20568118;21221998;21315259;21832049;23568457;21453247;22419519;22163036;22610502;16273093;22815893;23449627 1600 Q5T837;Q8NFD0 AB210012;ABBA01074662;ABBA01074663;ABBA01074664;ABBA01074665;ABBA01074666;ABBA01074667;ABBA01074668;ABBA01074669;ABBA01074670;ABBA01074671;ABBA01074672;ABBA01074673;ABBA01074674;ABBA01074675;AF071062;AF525763;AK095513;AK313144;AL080278;AL109944;AL137855;AL139219;AL161740;AL354883;AL355004;AL357373;AL359739;AL365367;AL390243;AL391826;AL442223;AL445193;AL627090;AL663085;AMYH01000645;AMYH01000646;AMYH01000647;AMYH01000648;AMYH01000649;AMYH01000650;AMYH01000651;AY174217;BC067445;BC067446;BC067447;BC112938;CH471059;CR933698;NM_021080 AAC70068;AAH67445;AAH67446;AAH67447;AAI12939;AAM83107;BAE06094;BAG53075;EAX06637;EAX06638;NP_066566;O75553 Hs.477370 1299923;1336083;1336994;1337417;1338715;1339615;1340893;1646144;1673546;1690406;1690998;1692508;1692568;1692590;1692640;1693106;1693116;1693136;1693164;1693190;1705728;1705994;1706484;1713109;1716045;1724509;1728503;1732215;1739893;1755199;1755949;1757153;1759333;1766861;1768864;1777929;1781602;1848627;1849357;1852919;1855390;2114266;2117363;2117365;2118842;2123045;2132057;2132246;2133776;2133911;2134052;2137899;2147296;2155638;2158678;2165645;2169966;2170383;2183099;5015619;5015861;5022322;5037552;5128243;7184292;7184294;7185938 A005B44;AFMa230vh5;AL009501;AL009547;AL009666;AL009699;AL009709;AL009865;AL009894;AL033906;AL033931;AL033947;AL034063;AL034280;AL034286;AL034293;AL034309;AL034326;B335YE1;D10S16;D11S2560;D11S3114;D13S1284;D1S1150;D1S2160;D1S2234;D1S2356;D1S2447;D1S2457;D1S2513;D1S2650;D1S2665;D1S2867;D1S2890;D1S3021;D1S3042;D1S476;D1S85;D8S2279;G16323;G20250;G34831;G63689;RH120342;RH120961;RH122513;RH78213;RH79717;RH98681;SHGC-142109;SHGC-142769;SHGC-144583;SHGC-149740;SHGC-151172;SHGC-152268;SHGC-152967;SHGC-30038;SHGC-35085;SHGC-58121;SHGC-74884;SHGC-78630;SHGC-81128;SHGC-83452;WI-14549 OTTHUMP00000010045;OTTHUMP00000011753;OTTHUMP00000011801;disabled homolog 1 APPROVED protein-coding ENSG00000173406 2661 04582 603448;606763 REVIEWED 1346826 DAAM1 dishevelled associated activator of morphogenesis 1 Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012] 14 14 q23.1 58725152 58906224 + 59655381 59838123 + 1580863;2293492;6480464;6484113;6907045 17226800 18218625;18162551;17986009;17482208;17021034;16630611;15489334;14702039;12508121;12477932;11779461;10631086;9734811;22655072;22857009;18029348;20223827;20351293;20379614;20927366;22869791;15342556;21903422;22118674;21139048 23002 G3V275;Q9Y4D1 AB014566;ABBA01018269;ABBA01018270;AK021890;AK093813;AK123651;AK291790;AL133502;AL159140;AL359219;AMYH01005765;BC024781;BC038428;BC064999;BP199650;BQ050640;BX247986;CH471061;NM_001270520;NM_014992 AAH24781;AAH38428;AAH64999;BAA31641;BAC04230;BAF84479;BAG51056;CAD62320;EAW80747;EAW80748;EAW80749;NP_001257449;NP_055807;Q9Y4D1 Hs.19156 1679674;1680158;1687093;1752377;1776639;1855958;2126199;2132589;2132717;2136874;2157690;2159590;2162613;2176681;2180580;2184438;5024545;5093712 A008I37;D14S764;D1S3695;G17802;G32879;G35672;RH44697;RH44879;RH46585;RH69737;RH70494;RH80413;RH94331;SHGC-106332;SHGC-33661;SHGC-34719;STS-AA024987;T03425 FLJ41657;KIAA0666 OTTHUMP00000179033;OTTHUMP00000244971;disheveled-associated activator of morphogenesis 1;dishevelled-associated activator of morphogenesis 1 APPROVED protein-coding ENSG00000100592 18142 09433 606626 REVIEWED 1348421 DACT1 dishevelled-binding antagonist of beta-catenin 1 The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 14 14 14 q23.1 39154745 39165027 + 58174510 58184792 + 59100786 59115039 + 1580863;6480464 18936100;16446366;15580286;15146197;12632086;12508121;11970895;8889548;17197390;21718540;21262972;18029348;19073771;19733838;20232357;20844743;21525190;21176356;21900206;22470507;21282530;21382349;23073659;22610794 51339 B7Z673;C9JGV7;Q9NYF0 ABBA01018264;AF251079;AI803159;AK299879;AK316164;AK316169;AK316237;AK316423;AL133312;AMYH01005762;AMYH01005763;AY603415;BK000256;BU742074;BX161433;CH471061;CN304224;DR001289;DR157190;NG_032025;NM_001079520;NM_016651;NR_046093;NR_046095 AAF65569;AAI72261;AAI72563;AAT99436;BAH13159;BAH14535;BAH14540;BAH14608;BAH14794;CAD61905;DAA00310;EAW80742;NP_001072988;NP_057735;Q9NYF0 Hs.48950;Hs.714204 1788730;2107993;5113196 DACT1_8041;RH135896;RH98203 DAPPER;DAPPER1;DPR1;FRODO;HDPR1;THYEX3 OTTHUMP00000179031;OTTHUMP00000201338;dapper antagonist of catenin 1;dapper homolog 1;dapper homolog 1, antagonist of beta-catenin;dapper homolog 1, antagonist of beta-catenin (xenopus);dapper, antagonist of beta-catenin, homolog 1;hepatocellular carcinoma novel gene 3 protein;heptacellular carcinoma novel gene 3 APPROVED protein-coding ENSG00000165617 17748 09709 607861 REVIEWED 1606344 D2HGDH D-2-hydroxyglutarate dehydrogenase This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] 2 2 q37.3 242322703 242356904 + 242674030 242708231 + 6480464;7240710 15070399;17353931;19283509;16442322;16344560;16081310;16037974;15815621;15609246;15489334;14702039;12477932;11181995;8889548;7609436;20727073;21625441;21890473 728294 B4E3L6;B5MCV2;F6XUM0;F8WCF9;G5E9E8;H7BZ32;H7C021;H7C0N1;H7C290;H7C3L2;Q8N465 ABBA01006065;AC114730;AC133781;AF318334;AK027102;AK055846;AK091725;AK094149;AK096060;AK124189;AK304764;AK304773;AK315188;AMYH01011634;BC031817;BC036604;BC071598;BC073980;CB997999;CH471063;CK300805;DA927909;NG_012012;NM_152783 AAH36604;AAH71598;AAL55841;AAX82020;BAC85798;BAG37628;BAG51584;BAG52404;BAG52828;BAG53205;BAG65519;BAG65528;EAW71290;EAW71291;EAW71292;NP_689996;Q8N465 Hs.516813 1849514;5015861;7185938 D10S16;G16336 D2HGD;FLJ42195;MGC25181 D-2-hydroxyglutarate dehydrogenase, mitochondrial;OTTHUMP00000200072;OTTHUMP00000200073;OTTHUMP00000200075 APPROVED protein-coding ENSG00000180902 28358 14502 600721;609186 REVIEWED 732352 DAB2IP DAB2 interacting protein DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010] 9 9 q33.1-q33.3 123369220 123587630 + 124329399 124547809 + 632628;1580863;6480464 11812785 15386433;15310755;15164053;19423541;18794092;18073375;16964243;16328005;15817459;22743059;22168621;15041729;14978793;14702039;12813029;12477932;12446720;12168954;11944990;11214970;20622881;20308539;17389591;18281285;21071540;19549807;19866473;19900942;19903888;20080667;20154697;20450899;22696229;23534349;21444365;18292600;22046421;22699663;23400010;23308052;19948740;19033661;23246699 153090 F6R503;F8WA47;H0Y3A3;Q5VWQ8 AB051530;ABBA01016222;ABBA01016223;ABBA01016224;ABBA01016225;ABBA01016226;AF367051;AK054851;AK096391;AK124609;AK124610;AL357936;AL365274;AMYH01021692;AMYH01021693;AY032952;BC011496;BC037314;BC040911;BC146762;BM546615;CH471090;NM_032552;NM_138709 AAI46763;AAK50336;AAM00371;BAB21834;BAG54058;EAW87501;EAW87502;EAW87503;EAW87504;NP_115941;NP_619723;Q5VWQ8 Hs.522378 1335667;1656176;1661290;1729902;1735896;1766607;1787128;1787144;2128321;2155793;2174460;2179406;2190865 D9S1019E;D9S1034E;D9S123;D9S1685;D9S1927;MARC_10012-10013:996678884:1;RH16163;RH16168;RH48968;SHGC-149913;SHGC-155351;SHGC-155769;SHGC-34367 AF9Q34;AIP-1;AIP1;DIP1/2;FLJ39072;KIAA1743 ASK-interacting protein 1;ASK1-interacting protein 1;DAB2 interaction protein;DAB2-interacting protein;DOC-2/DAB-2 interactive protein;DOC-2/DAB2 interactive protein;OTTHUMP00000022028;OTTHUMP00000197225;OTTHUMP00000197226;disabled homolog 2 (drosophila) interacting protein;disabled homolog 2-interacting protein;nGAP-like protein APPROVED protein-coding ENSG00000136848 17294 09903 609205 VALIDATED 731451 DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 p13 39407537 39461092 - 39371776 39425335 - 1580863;6480464;6484113;6907045;7243156;7243155;7243158;7243246;7243154;7243841 21762377;21890121;20666606;17317100;22357915;15774263 22399289;15837803;9620555;12857860;19204726;18582465;18354201;18070591;17671122;17115114;17081983;17009406;16984970;16964243;16870701;16267015;16061224;15894542;15489334;15302935;15280374;15231748;15134832;14669280;14596919;12881709;12853125;12805222;12606711;12477932;12473651;11967127;11927540;11906161;11812785;11387212;11371563;11247302;11161789;11039902;10769163;10542228;10340382;9569023;8889548;8660969;8314147;20936779;15247260;17474147;19423540;19581412;19767570;19855435;19956625;20379614;20383146;20406964;20438785;20628624;21063401;20525238;20592473;21573318;21097498;22898784;22977233;23005040;21496867;21987572;21995445;19531213;21725366;21139048;21963094;22323290;22558309;22158540;22265793;22218591;15734730;16713569;17110338;19738201;20448150;21988832;22648170;23263486;17187061;18429820;22705885 1601 B2RAW0;D6REB1;D6RFF7;D6RGZ1;D6RIA5;P98082 ABBA01024210;ABBA01024211;AC008846;AC008916;AF188298;AF205890;AI739507;AK024965;AK130136;AK297984;AK314381;AMYH01015043;BC003064;BU742719;CB989218;CH471119;L16886;NG_030312;NM_001244871;NM_001343;U39050;U53446 AAA93195;AAA98975;AAC50824;AAF05540;AAF23161;AAH03064;ABM82798;ABW03444;BAG37007;BAG60293;EAW55989;EAW55990;EAW55991;EAW55992;EAW55993;EAW55994;NP_001231800;NP_001334;P98082 Hs.696631 1660350;1698976;1712212;1723227;1753439;2118602;2168757;2169185;2176131;5095030 DAB2;G54013;RH103057;RH122297;RH67769;SGC34152;SGC34180;SHGC-107361;SHGC-52617;WI-18094 DOC-2;DOC2;FLJ26626 OTTHUMP00000221141;OTTHUMP00000221142;OTTHUMP00000221143;differentially-expressed protein 2;disabled homolog 2;disabled homolog 2, mitogen-responsive phosphoprotein;mitogen-responsive phosphoprotein APPROVED protein-coding ENSG00000153071 2662 03139 601236 REVIEWED 1626568 DAD1P1 defender against cell death 1 pseudogene 1 12 12 p12.1 30217532 30218162 - 25070636 25071318 - 12752258;11912161;10812081 56286 ABBA01068010;AC026310;AMYH01004337;NG_027931 DAD-R;DAD1L;DADR APPROVED pseudo 18295 609860 VALIDATED 1354112 DACH2 dachshund homolog 2 (Drosophila) This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] X X X q21.3 85643005 86327361 + 85290281 85974246 + 85403455 86087605 + 1580863;6480464 16344560;15885503;15459172;14702039;12477932;12438735;11287190;19913121;20628086;16917507;18029348;20211142 117154 A8K3I1;D6REJ4;D6RFG7;H0Y912;Q96NX9 ABBA01051752;ABBA01051753;ABBA01051754;ABBA01051755;ABBA01051756;ABBA01051757;ABBA01051758;ABBA01051759;ABBA01051760;ABBA01051761;ABBA01051762;ABBA01051763;ABBA01051764;ABBA01051765;ABBA01051766;ABBA01051767;ABBA01051768;ABBA01051769;ABBA01051770;ABBA01051771;ABBA01051772;ABBA01051773;ABBA01051774;ABBA01051775;ABBA01051776;ABBA01051777;ABBA01051778;ABBA01051779;ABBA01051780;ABBA01051781;ABBA01051782;ABBA01051783;ABBA01051784;ABBA01051785;ABBA01051786;ABBA01051787;ABBA01051788;ABBA01051789;ABBA01051790;ABBA01051791;ABBA01051792;ABBA01051793;ABBA01051794;ABBA01051795;ABBA01051796;ABBA01051797;ABBA01051798;ABBA01051799;ABBA01051800;ABBA01051801;ABBA01051802;ABBA01051803;ABBA01051804;ABBA01051805;ABBA01051806;ABBA01051807;ABBA01051808;ABBA01051809;ABBA01051810;ABBA01051811;ABBA01051812;ABBA01051813;ABBA01051814;ABBA01051815;ABBA01051816;ABBA01051817;ABBA01051818;ABBA01051819;ABBA01051820;AF428101;AK055953;AK091842;AK290596;AK294498;AK295648;AK298787;AL023095;AL034406;AL109752;AL138747;AL157381;AL390058;AL591465;AL834456;AMYH01022665;AMYH01022666;AMYH01022667;AMYH01022668;AMYH01022669;AMYH01022670;AMYH01022671;BC040213;BC048423;BC114950;CH471104;NG_012817;NM_001139514;NM_001139515;NM_053281;Z95124;Z95325 AAI14951;AAL26561;BAB71054;BAC03761;BAF83285;BAG57717;BAG58518;BAG60925;CAD39116;EAW98554;EAW98555;EAW98556;NP_001132986;NP_001132987;NP_444511;Q96NX9 Hs.86603 1335731;1341542;1341543;1668210;1675339;1700892;1703120;1703502;1737797;1758805;2127056;2131229;2142631;2182263;2218458;2220294;7186012 AB055268;AL022464;AL022471;D11S3398;DACH2_4666;DXS1002;DXS1168;DXS6829;DXS7129;DXS7785;DXS8109;DXS8114;RH104073;RH93234;SHGC-150959;SHGC-82623 FLJ31391;MGC138545 OTTHUMP00000023630;OTTHUMP00000023631;OTTHUMP00000217545;OTTHUMP00000217546;dachshund homolog 2 APPROVED protein-coding ENSG00000126733 16814 06481 300608 REVIEWED 6766448 DACT3-AS1 DACT3 antisense RNA 1 19 47163621 47180713 + 12477932 100506068 ABBA01040984;AC093503;AMYH01009869;AW269981;AW292135;BC043434;BX116982;NR_040041;NR_040042 Hs.434327 APPROVED miscrna ENSG00000245598 44120 VALIDATED 1321823 DACT2 dishevelled-binding antagonist of beta-catenin 2 6 6 6 q27 169426389 169438204 - 168450433 168463251 - 168707584 168720402 - 6480464;6484113 18370954;12632086;12477932;10737800;20379614;20877624;21718540;23244112;22806826 168002 Q5SW24 ABBA01000403;AF318336;AL606970;AMYH01016868;BC092498;BC111764;BC111790;BX329974;BX377941;CH471051;CV427932;DR004351;NM_214462 AAH92498;AAI11765;AAI11791;AAL55843;EAW47467;NP_999627;Q5SW24 Hs.673059 2110355 DACT2_3728 C6orf116;DAPPER2;DPR2;FLJ31232;MGC133141;MGC133142;RP11-503C24.7;bA503C24.7 OTTHUMP00000017658;dapper antagonist of catenin 2;dapper homolog 2;dapper homolog 2, antagonist of beta-catenin;dapper homolog 2, antagonist of beta-catenin (xenopus);dapper, antagonist of beta-catenin, homolog 2 APPROVED protein-coding ENSG00000164488 21231 12345 608966 VALIDATED 1606339 DACH1 dachshund homolog 1 (Drosophila) This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 13 13 q22 70910099 71339331 - 72012098 72441330 - 6480464 20834067;14525983;18957060;18639284;18467491;17891780;16980615;16189514;15818552;15489334;15057823;14702039;14628042;14563999;12477932;12215533;12057194;11950062;11543628;11025202;10502110;10395809;9933575;9651501;22367319;19913121;20628086;18029348;19351840;19502783;19605405;19901965;20351289;20379614;20383146;17182846;20956529;21558809;21750150;21890473;22379998;22405764;20301552;22781112;22902925;22889921;23263486 1602 Q96SG4 AA007235;ABBA01050326;ABBA01050327;ABBA01050328;AF069509;AF102546;AF356492;AJ005670;AK001000;AL079278;AL138698;AL139186;AL163542;AL354995;AMYH01005197;BC021219;BM476209;BQ440916;BQ938052;BQ951567;CH471093;NG_011849;NM_004392;NM_080759;NM_080760 AAC33466;AAF01351;AAH21219;AAI66617;AAL08487;CAA06666;CAB45153;EAW80508;EAW80509;EAW80510;EAW80511;EAW80512;NP_004383;NP_542937;NP_542938;Q9UI36 Hs.129452 1334679;1337310;1646508;1708932;1716585;1727143;1738423;1849250;1851051;2107991;2114080;5022751 AB062990;D13S1087E;D13S1291;D13S1324;DACH1;DACH1_8290;G62825;RH121637;RH69841;SHGC-79519;STS-T48058;WI-18453 DACH;FLJ10138 OTTHUMP00000018493;OTTHUMP00000018494;dachshund homolog 1 2303085 MAMTS48_H APPROVED protein-coding ENSG00000165659 2663 16031 603803 REVIEWED 1601931 DACT3 dishevelled-binding antagonist of beta-catenin 3 19 19 19 q13.32 43954390 43967921 - 51842709 51849754 - 47150869 47164395 - 6480464 18538736;16881060;15489334;12477932;21718540 147906 G5E9H6;Q96B18 ABBA01040981;ABBA01040982;ABBA01040983;ABBA01040984;AC093503;AMYH01009868;AMYH01009869;BC016161;BC034052;CH471126;NM_145056 AAH16161;EAW57438;EAW57439;EAW57440;NP_659493;Q96B18 Hs.515490 1678397;5014039;5015404;5015619;5015861;5015959;5015961;5016478;5019070;5020740;5020946;5020948;5021872;5022200;5022322;5022578;5024413;5037552;5112017;7185938 D10S16;D10S2448;D11S2560;D11S3114;D15S1477;D1S1423;D22S1584;D8S2279;G35510;G44334;G44365;GDB:434012;L17705;L17809;L17877;L17971;L18426;RH99095;sY3084 DAPPER3;MGC15476;RRR1 OTTHUMP00000203030;OTTHUMP00000205159;antagonist of beta-catenin Dapper homolog 3;arginine rich region 1;arginine-rich region 1 protein;dapper antagonist of catenin 3;dapper homolog 3;dapper, antagonist of beta-catenin, homolog 3;thymus expressed gene 3-like APPROVED protein-coding ENSG00000197380 30745 17505 611112 VALIDATED 1352602 DALRD3 DALR anticodon binding domain containing 3 The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013] 3 3 3 p21.31 48996918 49015190 - 49027439 49033471 - 49052435 49058467 - 737633;6480464 12477932 15146197;14702039;22990118;21900206;21987572;21906983;21963094;19906709;16344560 55152 C9JA38;C9JJG6;H7C0T8;Q5D0E6 AA553582;ABBA01024618;AC137630;AK001358;AK093054;AK093204;AK093294;AK301352;AK308273;AMYH01013155;BC014099;BC032440;BC047683;BC054493;BX648719;CF455269;CN365208;DB045082;HY047953;NG_016282;NG_033126;NM_001009996;NM_001276405;NM_018114 AAH32440;AAH47683;AAH54493;ACT64557;ACT64558;BAA91647;BAC04095;BAC04123;BAH13463;NP_001009996;NP_001263334;NP_060584;Q5D0E6 Hs.654815;Hs.708076 1679730;2110041;2176084;5112373 RH104439;RH80256;SHGC-76942;WDR6_9235 FLJ10496 DALR anticodon-binding domain-containing protein 3;OTTHUMP00000210518;OTTHUMP00000210519;OTTHUMP00000210520;OTTHUMP00000210521 protein-coding 25536 08549 VALIDATED 1343376 DAGLA diacylglycerol lipase, alpha This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010] 11 11 11 q12.2 58783359 58849887 + 61204486 61271049 + 61447905 61514474 + 6480464;6484113 16051747;14610053;12168954;9734811;22610502;12477932;18801880;22827915;21829377 747 F5GY58;Q9Y4D2 AB014559;ABBA01003205;AI702626;AMYH01003681;AMYH01003682;AP002380;AY275377;BC150176;BC150195;BC152453;BI963857;CH471076;NM_006133 AAI50177;AAI50196;AAI52454;AAQ17119;BAA31634;EAW73959;EAW73960;EAW73961;EAW73962;NP_006124;Q9Y4D2 Hs.241564 C11orf11;DAGL(ALPHA);DAGLALPHA;NSDDR DGL-alpha;OTTHUMP00000238143;chromosome 11 open reading frame 11;neural stem cell-derived dendrite regulator;sn1-specific diacylglycerol lipase alpha APPROVED protein-coding ENSG00000134780 1165 07092 614015 REVIEWED 1344302 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. Alternative splicing results in multiple transcript variants all encoding the same protein.[provided by RefSeq, Apr 2010] 3 3 p21 49482569 49548052 + 49506136 49573051 + 1580863;2314895;6480464;6907045 12177244 7619516;16344560;16254364;15175275;12920582;12795607;12598319;12592373;12477932;12386278;12140558;11798066;11724572;11717465;11502221;11430802;11423118;11342559;10988290;10932245;10903901;10769203;10767429;10355629;10207021;9851928;9851927;9169421;9153251;8996823;8268918;8205617;7925941;7774920;7744812;9417121;1406935;1741056;8798547;19587235;19367581;19244252;18983465;18939472;18764929;18456664;18087214;17640712;17516554;17196572;17012237;17005282;16709410;16575202;16466646;15210115;19913121;20628086;21255062;20736308;20507882;20512930;10684260;17474147;17993586;18201566;18341635;18691338;19109891;19348877;19946898;20044576;20307617;20350218;20625412;20626751;21203384;21741360;22939629;21987822;15146197;15342556;17628813;20338590;19531213;22964035;21890473;21906983;21139048;21931648;21987572;7592992;19322201;22138543;21347376;22307776;22405130;22996647;21963094;23000965;23223448;22801424;8017170 1605 C9J196;C9J6Z6;C9JEH2;C9JEN1;C9JLH6;C9JQL4;C9JY76;C9JYS1;Q14118 ABBA01024583;ABBA01024584;ABBA01024585;ABBA01024586;AC104452;AK291692;AK297802;AMYH01013159;AU140753;AW204012;BC012740;BC014616;BF476692;BM990874;BP200440;BX384229;BX402174;CH471055;CN282379;CX871468;DA223570;DA338757;DA451012;DA698126;DA843040;DA851197;DB065493;DB087722;DB089586;DB214431;DB214875;L19711;NG_013230;NM_001165928;NM_001177634;NM_001177635;NM_001177636;NM_001177637;NM_001177638;NM_001177639;NM_001177640;NM_001177641;NM_001177642;NM_001177643;NM_001177644;NM_004393 AAA81779;AAH12740;AAH14616;ABM84417;ABM87434;BAF84381;BAG60140;EAW64989;EAW64990;NP_001159400;NP_001171105;NP_001171106;NP_001171107;NP_001171108;NP_001171109;NP_001171110;NP_001171111;NP_001171112;NP_001171113;NP_001171114;NP_001171115;NP_004384;Q14118 Hs.76111 1653246;1712150;1737557;1742927;1793772;2134517;5015619 Bdy62f05;D11S3114;D3S3146;D3S3337;G54125;GDB:215839;PMC28400P1 156DAG;A3a;AGRNR;DAG;FLJ51254;MDDGC7;MDDGC9 OTTHUMP00000210844;OTTHUMP00000210857;OTTHUMP00000210858;dystroglycan APPROVED protein-coding ENSG00000173402 2666 00546 128239;613818 REVIEWED 1350029 DAD1 defender against cell death 1 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008] 14 14 q11.2 22103647 22127969 - 23033807 23058143 - 6480464;6907045 15835887;8413235;18383209;15489334;15342556;12665801;12477932;10965038;10384128;9167970;9144178;8125298;7737422;7601483;21509594;20379614;20453000;20677014;21319273;21606320;20639865;21139048;21890473;21906983 1603 F5GXX5;F5H895;P61803;Q53G02 ABBA01061279;ABBA01061280;AK223129;AL160314;AMYH01005597;AY259117;BC007403;BC009798;BC038575;BP198316;CH471078;CR407682;CR542204;D15057;NM_001344;U84213 AAB58540;AAH07403;AAH09798;AAO74827;ABM83794;ABM87116;BAA03650;BAD96849;CAG28610;CAG47001;EAW66252;EAW66253;NP_001335;P61803 Hs.82890 1702106;1745081;1789302;2114398;2137607;5015861;5020274;5037552;5120993;7185938 D10S16;D8S2279;G35480;G67928;GDB:593795;HUM000S317;L18441;SGC35549;UniSTS:99121 OST2 DAD-1;OTTHUMP00000164488;OTTHUMP00000239715;OTTHUMP00000239717;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1;oligosaccharyl transferase subunit DAD1;oligosaccharyltransferase 2 homolog;oligosaccharyltransferase subunit 2 (non-catalytic) APPROVED protein-coding ENSG00000129562 2664 02589 600243 REVIEWED 4107151 DAOA-AS1 DAOA antisense RNA 1 13 q33.2 106111404 106158030 - 12364586;12647258;15194506;15271585;15477870;15546984;15653269;15738936;16402132;16791105;17179078;17179866;17651942;18165970;18775646;19189879;19937977 282706 Q8IU97 ABBA01027057;AL359751;AMYH01005353;AY138548;NR_040247 AAN08434 Hs.558713 DAOA-AS;DAOAAS;G30 APPROVED miscrna ENSG00000232307 30243 07597 607415 VALIDATED 1604501 DAGLB diacylglycerol lipase, beta 7 7 7 p22.1 6247497 6286391 + 6415285 6454110 - 6448747 6487643 - 6480464;6484113 16806233;16303743;15489334;14702039;14610053;12690205;12477932;8681137;16169070;21139048;21890473;22190034 221955 B4DVJ1;C9JA85;E7ET49;E7EVQ4;F8WBN0;Q8WXE6 AACC02000121;ABBA01056485;ABBA01056486;ABBA01056487;ABBA01056488;AC009412;AC072052;AF450090;AK074210;AK074584;AK074744;AK075128;AK090943;AK091228;AK093958;AK122748;AK298910;AK298955;AK301087;AK301104;AMYH01017036;AMYH01017037;BC027603;CB528359;CH236963;CH878731;CQ783180;CQ834678;DC303993;DC304654;F17444;NM_001142936;NM_139179 AAH27603;AAL47020;BAB85017;BAC04258;BAC11073;BAC11175;BAC11420;BAG52250;BAG52312;BAG53702;BAG61018;BAG61052;BAG62690;BAG62703;CAF86385;CAH05554;EAL23721;EAW55033;EAW55034;EAW55035;EAW55036;EAW55037;NP_001136408;NP_631918;Q8NCG7 Hs.487498 1849669;1854388;2132672;5093048;5109281 A009E42;D1S1425;G32489;GDB:4585605;GDB:4585739 DAGLBETA;FLJ33624;FLJ33909;FLJ45532;KCCR13L DGL-beta;OTTHUMP00000155168;OTTHUMP00000208768;OTTHUMP00000208770;sn1-specific diacylglycerol lipase beta protein-coding ENSG00000164535 28923 17324 614016 VALIDATED 1342724 DAND5 DAN domain family member 5, BMP antagonist This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12970172 12975308 + 12941432 12946567 + 13080432 13085567 + 6480464 15466485;15254711;14702039;14525956;12477932;22901808 199699 K7EQF6;Q8N907 AB070695;ABBA01029763;AC092069;AK095926;AMYH01009497;BC025333;BC101800;BC113476;CH471106;NM_152654 AAI01801;AAI13477;ADR82845;BAC04651;BAC82440;EAW84336;EAW84337;NP_689867;Q8N907 Hs.331981 5022651;5037552 D11S2921;D8S2279 CER2;CERL2;CKTSF1B3;COCO;CRL2;DANTE;GREM3;MGC126849;SP1 DAN domain family member 5;DAN domain family, member 5;cerberus 2;cerberus-like 2;cerberus-like protein 2;cerl-2;cysteine knot superfamily 1, BMP antagonist 3;gremlin-3 APPROVED protein-coding ENSG00000179284 26780 08788 609068 REVIEWED 6483483 DAP3P1 death associated protein 3 pseudogene 1 1 q21.3 155568604 155571988 + 12706105;16545939 359804 ABBA01016690;AL353807;AMYH01001431;AY135326;NG_002904 DAP3P;MRPS29P1 pseudo 17624 INFERRED 1603384 DANCR differentiation antagonizing non-protein coding RNA 4 4 4 q12 51075187 51076871 + 53578621 53580305 + 53578621 53580305 + 6480464 15489334;12477932;11752456;7788527;22302877;19531736 57291 P0C864 ABBA01003380;AC104066;AMYH01014179;BC015222;BC045566;D28589;NR_024031 P0C864 Hs.744077 1676366 RH26448 AGU2;ANCR;KIAA00167;KIAA0114;SNHG13 APPROVED miscrna ENSG00000226950 28964 614625 VALIDATED 4144446 DAP3P2 death associated protein 3 pseudogene 2 2 2 2 q31.2 165964515 165965029 + 172056173 172056687 + 172347927 172348441 + 12706105 359774 ABBA01020726;AC007969;AMYH01011262;AY135327;NG_002890 MRPS29P2 APPROVED pseudo 29762 INFERRED 5686986 DAPK1-IT1 DAPK1 intronic transcript 1 (non-protein coding) 9 q21.33 90168369 90169374 + 22078386 100506897 ABBA01016326;AL161787;AMYH01021479;BQ025444;XR_171053;XR_171790;XR_172487 Hs.656160;Hs.744071 1669718 STS-N34470 miscrna 43591 MODEL 1607064 DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been identified, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 58436381 58451612 + 60857230 60872807 + 61100654 61116231 + 6480464;6907045 17600090;16344560;16289032;15771780;15489334;14702039;12477932;8125298;22863883;22939629;21139048;21890473;21906983;22505724 26007 E9PJG8;E9PQR1;H0YCY6;I3L252;Q3LXA3 ABBA01003198;AK023915;AK094516;AK223580;AK308553;AL110260;AMYH01003677;AP003108;BC001341;BC120929;BF197629;CH471076;DA932478;DB056724;DQ138290;DQ344550;HB877020;HC934429;NM_015533 AAH01341;AAI20930;ABA10576;ABC70184;BAB14722;BAD97300;CAB53701;CBF62860;CBU87736;EAW73938;EAW73939;EAW73940;NP_056348;Q3LXA3 Hs.6278 1339814;1657406;2173721;2175966;2184485 A005B24;D2S2154;RH66357;STS-H20543;WI-21475 DKFZp586B1621;MGC5621;NET45 ATP-dependent dihydroxyacetone kinase;DHA kinase;Dha kinase/FMN cyclase;FAD-AMP lyase cyclic FMN forming;FAD-AMP lyase cyclizing;OTTHUMP00000235855;OTTHUMP00000235860;bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing);glycerone kinase APPROVED protein-coding ENSG00000149476 24552 13180 REVIEWED 1349838 DAOA D-amino acid oxidase activator This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011] 13 13 q33.2 104916365 104941384 + 106118216 106143383 + 1358627;6480464;7240710 14966479 19367581;19339914;19237267;19194963;19189879;19167508;19089835;19077230;18775646;18584117;18544534;18541412;18516516;18466879;18423426;18346999;18198266;18165970;18023149;17880399;17767147;17728673;17684499;17651942;17629951;17627036;17492767;17410640;17408693;17250995;17179866;17179078;17152404;17143075;17055463;17029202;17006672;16842973;16791105;16603472;16585465;16581030;16554747;16402132;16263850;16183301;16082701;16009449;15738936;15546984;15489334;15477870;15271585;15248869;15194506;15121480;15057823;14759258;12647258;12477932;12364586;17336946;17293043;11181995;21443574;22239582;20889312;20667145;18583979;19439994;19482054;19548263;19560517;19689504;19763662;19778423;19937977;20005295;20009237;20145586;20230869;20336655;20471098;20483474;20712760;20957330;21041608;19760675;22851402;21215384;22454242;22884423;22429365;21679769;21508934;21716263;22122005;22589738;23286827;23497497;23251661 267012 A2T115;M0R0L0;M0R2M6;M0R2W9;P59103;Q8IWM3 ABBA01027057;AL359751;AMYH01005353;AY138546;AY138547;AY170469;AY170470;AY170471;AY223901;BC121090;BC121091;CH471085;DQ343761;DQ357223;DQ386869;DQ386870;NG_012694;NM_001161812;NM_001161814;NM_172370 AAI21092;AAN08432;AAN08433;AAO12727;AAO12728;AAO12729;AAO73604;ABC59904;ABC86111;ABD52720;ABD52721;EAX09077;EAX09078;EAX09079;EAX09080;EAX09081;NP_001155284;NP_001155286;NP_758958;P59103 Hs.381382 1339623;1685584;2131135;2163589;2189887;2189929;2189935 8-130;99-15870;99-16038;AFM282wa5;D13S1809;D13S277;D13S797 G72;LG72;SG72 D-amino acid oxidase activator;G72 transcript;OTTHUMP00000038758;OTTHUMP00000230730;schizophrenia- and bipolar disorder-associated protein G72 APPROVED protein-coding ENSG00000182346 21191 07591 181500;607408 REVIEWED 1350103 DAO D-amino-acid oxidase This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008] 12 12 q24 107797986 107818839 + 109273857 109294710 + 1298635;1298636;1580863;6480464;6907045;7240710 1356107;8182053 2901986;19367581;19309736;19240061;19223009;19156168;18715757;18560437;18544534;18165970;17890006;17728673;17629951;17627036;17492767;17408693;17250995;17179078;17088322;17055463;16828464;16616139;16380905;16344560;15489334;15464270;14966479;12477932;12364586;12053066;11452983;8889548;8195119;2885296;17336946;20602615;20712760;20855273;15956068;18583979;19439994;19586533;19670078;19685198;19693267;19729970;19823762;20178891;20368421;20483168;20521334;23497497;20178365;22802136;21421061;21700703;22865246;21679769;21471957;17303072;22239582;21988832;23152756;23219954 1610 F8VV35;F8VVT2;F8W152;P14920 ABBA01053122;AC087893;AK312995;AMYH01004733;AX741655;AX741656;AX741658;AX741659;AX776478;AX776479;AX776480;AX786386;BC029057;BC074770;BM932083;BX538210;CH471054;D11370;DA085245;NG_023236;NM_001917 AAH29057;AAH74770;ABM81765;ABM84921;BAA20974;BAG35832;CAD90933;CAD90934;CAD90936;CAD90937;CAD98069;CAE11742;CAE11743;CAE11744;CAE11959;EAW97834;EAW97835;EAW97836;EAW97837;EAW97838;NP_001908;P14920 Hs.113227 1336508;1744011;2118474;2127210;2189835;2189837;7186758 27-2;27-29;D12S105;GDB:384833;SGC35423;STS-X13227 DAAO;DAMOX;MGC35381;OXDA D-amino acid oxidase;D-amino-acid oxidase;OTTHUMP00000240887;OTTHUMP00000240889 APPROVED protein-coding ENSG00000110887 2671 15917 124050;181500 REVIEWED 737267 DAP death-associated protein This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. [provided by RefSeq, Jul 2008] 5 5 5 p15.2 10716485 10798530 - 10732342 10814387 - 10679342 10761387 - 1300389;1302217;1580863;6480464 8530096;7828849 17081983;16602700;15489334;15342556;12477932;9916995;16169070;20237496;20379614;1087798;21297633;21906983;23128233 1611 B4DQ75;P51397 ABBA01020607;AC012629;AK298670;AK311783;AMYH01014905;AY266680;BC002726;BP265421;BT006925;CH471102;CR542184;DC395850;NG_011546;NM_004394;X76105 AAH02726;AAO89078;AAP35571;BAG34726;BAG60837;CAA53713;CAG46981;EAX08056;NP_004385;P51397 Hs.75189 1341237;1656360;1740355;1740365;1749911;1795246;2112198;2127525;2172794;7186374 D5S2187E;D5S2193E;D5S2480;D5S2726;D5S2772;D5S432;DAP_18;RH45554;SHGC-111632 MGC99796 DAP-1;OTTHUMP00000161670;OTTHUMP00000221331;death-associated protein 1 APPROVED protein-coding ENSG00000112977 2672 02977 600954 REVIEWED 1323186 DAPK1 death-associated protein kinase 1 Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. [provided by RefSeq, Jul 2008] 9 9 q21.33 89302576 89513369 + 90112756 90323549 + 1300389;1580863;6480464;6484113;6907045 8530096 19018866;10629061;7828849;19521987;19259700;19237746;19212339;19180116;19148529;19094228;15634757;15492995;15048887;15018706;14767518;14612952;14530257;14504087;12911633;12820391;12792765;12730201;12708480;12477932;12370243;12351649;12082610;12031912;11809677;11579085;11485996;15729359;15616583;18995835;18974095;18830724;18813964;18583991;18519826;18425396;18422656;18349282;18336955;18292548;18195017;18026971;17953697;17895359;17868341;17703233;17690039;17683884;17592394;17540169;17523078;17477876;17324930;17324927;17319784;17244621;17209433;17056602;16951219;16858683;16847012;16344560;16213824;16142356;16085644;15809761;21918973;22096027;22318606;22610502;19196380;20534741;20574532;20677014;21749573;19272801;19957692;20655775;20811724;16132846;17339337;19267229;19395874;19506903;19627511;19628771;19695681;19795445;19878310;19917631;20005690;20018188;20103772;20220139;20379614;20413850;20471512;20098747;21115918;18799028;20682398;20630662;21172653;20704749;20514412;19778817;22490852;22490855;20360646;21353277;21287504;21497122;21152427;21152877;21302620;22087225;21159370;22988864;20389280;21212658;21134130;21797120;23438478;21725354;21922274;16756490;21176336;21311567;21965790;22420243;22095288;21516484;22465880;22549447;21979297;22136354;21139048;21167819;21690574;22827846;22116316;22552543;22160140;22230750;22293537;22371043;23478405;23545262;23275143;23383130;15001356;19712061;22785394 1612 B7ZLE7;F8WCQ3;P53355;Q59H88;Q5T8F1 AA846231;AB208871;ABBA01016326;ABBA01016327;ABBA01016328;AK127855;AK295119;AK296839;AL160279;AL161787;AL591852;AMYH01021479;BC113660;BC143730;BC143733;BC143759;BT006935;CH471089;CR749834;DA887235;DQ436495;EF090258;NG_029883;NM_004938;X76104 AAI13661;AAI43734;AAI43760;AAP35581;ABD96827;ABK78671;ADR83287;BAC87163;BAD92108;BAG58146;BAH12440;CAA53712;CAH18690;EAW62725;EAW62726;EAW62727;EAW62728;NP_004929;P53355 Hs.380277;Hs.693441 1338296;1653182;1669718;1710920;1721529;1738281;1763037;1765351;1766075;1775703;1855727;2108745;2120018;2150016;2156260;2161543;2181595;5017833 D9S2045;D9S257;D9S316;DAPK1;DAPK1_7778;G59619;RH18220;RH45604;RH69306;SHGC-146783;SHGC-148843;SHGC-149458;SHGC-2351;SHGC-33610;SHGC-84082;STS-N34470;STS-X76104;WI-17027 DAPK;DKFZp781I035 DAP kinase 1;OTTHUMP00000021604;OTTHUMP00000216191;OTTHUMP00000216192;OTTHUMP00000216193;death-associated protein kinase 1 APPROVED protein-coding ENSG00000196730 2674 02902 600831 REVIEWED 1313309 DAP3 death associated protein 3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010] 1 1 q22 153925498 153974944 + 155658882 155708801 + 6480464;6484113 17353931;7499268;19536094;19103604;18227431;17613536;16710414;15679048;15302871;15179560;15175341;12706105;12477932;12359235;12099703;11753396;11543634;10903152;9284927;8125298;11248257;11162496;11402041;11376335;11279123;19064571;19644511;20563667;18029348;20877624;19454010;14702039;22939629;16196087;20186120;21628590;19287380;21139048;21906983;22287761 7818 P51398 AB061210;ABBA01016688;AK022879;AK225869;AK293117;AK298201;AK302281;AL162734;AMYH01001432;BC002358;BC107487;BC107488;BQ183744;BT019494;CH471121;CR749790;NM_001199849;NM_001199850;NM_001199851;NM_004632;NM_033657;U18321;X83544 AAA57443;AAI07488;AAI07489;AAV38301;BAB54960;BAF85806;BAG60471;BAG63624;CAA58535;CAH18651;EAW53043;EAW53044;EAW53045;EAW53046;EAW53047;EAW53048;EAW53049;EAW53050;EAW53051;NP_001186778;NP_001186779;NP_001186780;NP_004623;NP_387506;P51398 Hs.516746 1339714;1771460;1855287;2154893;2219066;5015619;5016478;5037552 D11S3114;D1S1595;D1S1847E;D1S2140;D8S2279;DAP3_2922;GDB:434012;RH50308 DAP-3;DKFZp686G12159;FLJ12817;MGC126058;MGC126059;MRP-S29;MRPS29;bMRP-10 28S ribosomal protein S29, mitochondrial;OTTHUMP00000033480;OTTHUMP00000033481;S29mt;death-associated protein 3;ionizing radiation resistance conferring protein;mitochondrial 28S ribosomal protein S29 APPROVED protein-coding ENSG00000132676 2673 03646 602074 REVIEWED 1603932 DAPL1 death associated protein-like 1 2 2 2 q24.1 153268619 153289288 + 159360087 159380743 + 159651829 159672497 + 6480464 12477932;12107413;20800603;23251661 92196 A0PJW8;B8ZZC6;H0Y3U5;M1E9T5 ABBA01004853;AC079877;AF086541;AMYH01011203;AY324399;BC127682;BC127683;BC140719;CD675155;CH471058;HQ179934;NM_001017920 A0PJW8;AAI27683;AAI27684;AAI40720;AAQ93012;AEM53914;EAX11424;NP_001017920 Hs.59761 OTTHUMP00000204750;death-associated protein-like 1;early epithelial differentiation-associated protein protein-coding ENSG00000163331 21490 18709 VALIDATED 1312311 DAPK2 death-associated protein kinase 2 This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008] 15 15 q22.31 61986288 62125574 - 64199235 64338521 - 6480464;6907045 11230133;10376525;10629061;18957423;18521079;17347302;17081983;15761153;15489334;12477932;12087472;11980920;11839665;11839660;19221469;21408167;21832049;16756490;22160140 23604 H0YKW8;H0YL86;H0YLP5;H0YMK1;Q9UIK4 AB018001;ABBA01038903;ABBA01038904;AC015914;AC021541;AF052941;AK026801;AK310967;AMYH01006705;BC114506;BC114951;CH471082;GU056176;NM_014326 AAC35001;AAI14507;AAI14952;ADD83109;BAA88063;EAW77657;EAW77658;EAW77659;NP_055141;Q9UIK4 Hs.237886 1334653;1335031;1720675;1759575;2130342;2158030;2187625;5015961;5016478;5022322 D11S2560;D15S1018;D15S1229;D15S1477;D15S644;D15S993;G09463;G59152;GDB:434012;SHGC-150910 DRP-1;DRP1;MGC119312 DAP kinase 2;DAP-kinase-related protein 1;DAP-kinase-related protein 1 beta isoform;OTTHUMP00000163874;death-associated protein kinase 2 APPROVED protein-coding ENSG00000035664 2675 09905 REVIEWED 731385 DAPK3 death-associated protein kinase 3 Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008] 19 19 p13.3 3909452 3920826 - 3958452 3969826 - 1580863;734875;6480464;6907045 12124340 10356987;12917339;19117059;18515077;18084323;17126281;15910542;15546961;15489334;15292222;15001356;14702039;12560483;12477932;12242277;10602480;10580117;9747039;9488481;20085750;18995835;20854903;21454679;21487036;18239682;16756490;19953087;21139048;21906983;22145905;21963094;21988832;22939624;23454120;23326517 1613 M0QYW5;M0QYY8;M0R0D0;O43293 AB007144;AB022341;AB265224;ABBA01002860;AC011488;AK027590;AK074799;AK093792;AK097643;AMYH01009319;BC126430;BC126432;CH471139;CQ782734;NM_001348 AAI26431;AAI26433;ADR83007;BAA24955;BAA81746;BAF34614;BAG51355;BAG52004;BAG52765;CAF85967;EAW69276;NP_001339;O43293 Hs.631844 1847810 RH47447 FLJ36473;ZIP;ZIPK DAP kinase 3;DAP-like kinase;MYPT1 kinase;ZIP kinase isoform;ZIP-kinase;death-associated like kinase;death-associated protein kinase 3;dlk;zipper-interacting protein kinase APPROVED protein-coding ENSG00000167657 2676 04478 603289 REVIEWED 1320943 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 4 4 q25-q27 100957013 101010334 + 100737981 100791347 + 6480464;6484113;6907045 10432293;15494510;15489334;15247305;14563325;12477932;12101241;11781373;11524430;11042152;10983984;10880360;10770799;8889548;11001876;17823121;21930970 27071 J3KNB3;Q9UN19 ABBA01063674;AF161551;AF163254;AF178987;AF186022;AK301355;AL713793;AMYH01014423;AP001962;BC012924;BM968883;CA428013;CH471057;DN995752;NM_014395 AAD49697;AAF14578;AAF29038;AAF44351;AAH12924;ABM84502;ABM85591;BAG62900;CAD28547;EAX06108;EAX06109;EAX06110;EAX06111;NP_055210;Q9UN19 Hs.436271;Hs.708484 1677328;1723723;1724489;1754717;1757551;2176889;2218460;5024761 DAPP1_4668;RH121432;RH122503;RH36905;SHGC-133078;SHGC-145018;SHGC-64080;SHGC-67302 BAM32;DKFZp667E0716 B-cell adapter molecule of 32 kDa;OTTHUMP00000219463;OTTHUMP00000219464;b lymphocyte adapter protein Bam32;dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide;hDAPP1 protein-coding ENSG00000070190 16500 05773 605768 VALIDATED 1347611 DARC Duffy blood group, atypical chemokine receptor The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q21-q22 157441134 157442914 + 159173803 159176290 + 1580863;6480464;6907045;7240710 21156192;10570183;7689250;19454342;19454341;19454340;19454339;19336370;19206111;19180233;19064726;19060902;19048480;18827265;18804827;18710383;18621010;18608113;18510579;18460195;18248572;18230715;18093292;18067501;17955335;17880612;17416748;17382291;17207965;17073738;16710414;16372020;15847654;15783300;15754970;15569072;15489334;15358176;15327416;15214968;13679391;12956774;12739041;12734373;12697152;22744181;12477932;12160521;12081195;11813069;11753822;11730271;11446431;9921412;9886340;9746760;9731074;9195930;9058825;8542025;8248172;7833467;7705836;7663520;7592830;2892777;21151196;19913121;20560530;20588308;20628086;20664684;20199879;23017229;23259672;20040767;20347396;8889548;17903293;19290478;19620399;19822078;19927622;20162434;20231434;20431033;20655787;20655790;16148;7517217;21507922;20596779;21088296;23347639;23224555;22097233;22082243;23028857;22037903;21784153;23168236;22123959;22075330;22291609;22207676;22939635;23251661;23263863 2532 Q5JY94;Q5Y7A1;Q5Y7A2;Q9UQE1 ABBA01016620;AF030521;AF055992;AF100634;AK291593;AL035403;AMYH01001444;AY167991;AY663416;AY663417;AY663418;AY663419;AY663420;AY663421;AY663422;AY663423;AY663424;AY663425;AY663426;AY663427;AY663428;AY663429;AY663430;AY663431;AY663432;AY663433;AY747695;BC017817;BC095496;BM671230;BX537430;CA435450;CD701182;DQ181553;DQ181554;DQ181555;DQ181556;DQ181557;DQ181558;DQ181559;DQ181560;DQ181561;DQ181562;DQ181563;DQ181564;DQ181565;DQ181566;DQ181567;EL735542;JN251907;JN251908;JN251909;JN251910;JN251911;JN251912;JN251913;JN251914;JN251915;JN251916;JN251917;NG_011626;NM_001122951;NM_002036;S76830;U01839;X85785 AAB33239;AAC50055;AAC72301;AAD20435;AAF02415;AAF02416;AAH17817;AAH95496;AAO11657;AAU47275;AAU47276;AAU47278;AAU47279;AAU47281;AAU47282;AAU47284;AAU47285;AAU47287;AAU47288;AAU47290;AAU47291;AAU47293;AAU47294;AAU47296;AAU47297;AAU47299;AAU47300;AAU47302;AAU47303;AAU47305;AAU47306;AAU47308;AAU47309;AAU47311;AAU47312;AAU47314;AAU47315;AAU47317;AAU47318;AAU47320;AAU47321;AAU47323;AAU47324;AAU47326;AAU47327;AAW71991;ABA10403;ABA10404;ABA10406;ABA10407;ABA10409;ABA10410;ABA10412;ABA10413;ABA10415;ABA10416;ABA10418;ABA10419;ABA10421;ABA10422;ABA10424;ABA10425;ABA10427;ABA10428;ABA10430;ABA10431;ABA10433;ABA10434;ABA10436;ABA10437;ABA10439;ABA10440;ABA10442;ABA10443;ABA10445;ABA10446;ABM82892;ABM86081;AET81017;AET81018;AET81019;AET81020;AET81021;AET81022;AET81023;AET81024;AET81025;AET81026;AET81027;AET81028;AET81029;AET81030;AET81031;AET81032;AET81033;AET81034;AET81035;AET81036;AET81037;AET81038;BAF84282;CAA59770;CAD97672;NP_001116423;NP_002027;Q16570 Hs.153381 1793642;2147181;2171832 IB2132;PMC24175P1;RH70526 ACKR1;CCBP1;CD234;Dfy;FY;GPD;GpFy;WBCQ1 Duffy antigen/chemokine receptor;Duffy blood group antigen;Duffy blood group, chemokine receptor;Fy glycoprotein;OTTHUMP00000035293;OTTHUMP00000035294;OTTHUMP00000035295;atypical chemokine receptor 1;glycoprotein D;plasmodium vivax receptor APPROVED protein-coding ENSG00000213088 4035 00192 110700;611162;611862;613665 REVIEWED 1349512 DAZ1 deleted in azoospermia 1 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008] Y Y q11.223 23684896 23754545 - 25275502 25345239 - 6480464 15476166;15081113;16001084;19223287;19030103;18440997;18385127;18326516;17881721;17609244;17453684;17416365;17412880;16963411;16848763;16805138;16777954;16674553;16580401;16491269;16275261;16085382;16078663;16021857;15571102;15253135;15066460;15066457;12815422;12801575;12752250;12511597;12477932;12039700;11883873;11870237;11869379;11694340;11688365;11390979;11095434;11058556;10936047;10903443;10857750;9700189;9321470;8981970;8968756;8896558;8845845;8661148;7670487;20663794;16946704;19865085;20039973;20170395;21906983;20301513 1617 Q1RMF9;Q9NQZ3 ABBA01117667;AC010088;AC053490;AF271087;AF271088;AF414183;AK310133;AY466627;AY466628;AY466629;AY466630;AY547293;AY571147;BC114927;DB461291;NG_004755;NG_008286;NM_004081;U66077 AAF91405;AAF91406;AAI14928;AAL24501;AAR31726;AAR31727;AAR31728;AAR31729;AAS55959;AAS78586;NP_004072;Q9NQZ3 Hs.522868;Hs.70936 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 DAZ;FLJ17175;SPGY OTTHUMP00000040904;deleted in azoospermia protein 1 APPROVED protein-coding ENSG00000188120 2682 15958 400003 REVIEWED 1602062 DAW1 dynein assembly factor with WDR repeat domains 1 2 2 2 q36.3 222505710 222558395 + 228444571 228497270 + 228736327 228789026 + 6480464 16093345;15815621;15489334;14702039;12477932;20568242;17549794;19287380;21953912 164781 C9JBF9;C9JP90;F8WCV0;G5EA46;Q8N136 ABBA01050167;ABBA01050168;ABBA01050169;AC073065;AK097409;AK098821;AK127882;AK301861;AMYH01011543;BC036377;CH471063;NM_178821 AAH36377;AAX93215;BAC05039;BAC05425;BAC87175;BAG63301;EAW70880;EAW70881;EAW70882;EAW70883;EAW70884;NP_849143;Q8N136 Hs.424594 1688861 RH99279 FLJ25955;ODA16;WDR69 OTTHUMP00000164246;OTTHUMP00000204161;WD repeat domain 69;WD repeat-containing protein 69;outer row dynein assembly 16 homolog;outer row dynein assembly protein 16 homolog APPROVED protein-coding ENSG00000123977 26383 08079 PROVISIONAL 1605663 DARS2 aspartyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009] 1 1 q25.1 172060581 172094305 + 173793797 173827682 + 6480464;7240710 19209188;17384640;16710414;15779907;15489334;14702039;12477932;9878398;19592391;18029348;20877624;20506600;20878420;20811636;21815884;21792730;21139048;21749991;21890473;22023289;23275545;21988832;23000965;23216004;22797925 55157 Q6PI48;Q9H9J7;Q9H9M6 ABBA01027897;ABBA01027898;ABBA01027899;ABBA01027900;AK001376;AK022754;AK290873;AL109921;AL519850;AL833633;AMYH01001504;AMYH01001505;BC045173;CH471067;NG_016138;NM_018122 AAH45173;BAA91658;BAB14228;BAF83562;EAW90960;EAW90961;EAW90962;NP_060592;Q6PI48 Hs.647707 1710188;2162271;2175669 RH70100;SHGC-52636;SHGC-82365 ASPRS;FLJ10514;LBSL;MT-ASPRS;RP3-383J4.2 OTTHUMP00000032692;aspartate tRNA ligase 2, mitochondrial;aspartate--tRNA ligase, mitochondrial;aspartyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000117593 25538 07677 610956;611105 REVIEWED 732389 DARS aspartyl-tRNA synthetase Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during protein biosynthesis. [provided by RefSeq, Jul 2008] 2 2 q21.3 136380724 136459692 - 136664254 136743222 - 1580863;6480464 8449960;17220478;16189514;15779907;15489334;12824064;12477932;11829477;10913161;10200289;9878398;8125298;7806521;2674137;1651330;21145461;18029348;11714285;16055448;17474147;8052601;8078941;8188258;9278442;21121901;19380743;23106098;22863883;22939629;16196087;18457437;21081666;21900206;21110914;18781797;21139048;21890473;21906983;20473970;19738201;22623428;23000965;23455922;23643384;22190034 1615 C9J7S3;C9JLC1;C9JQM9;H7BZ35;H7C278;P14868;Q68CR9 ABBA01028154;ABBA01028155;ABBA01028156;ABBA01028157;AC011999;AC093391;AK129521;AK222476;AK290607;AMYH01011124;AY762100;BC000629;BC107749;BI753718;BT006710;BU615302;CH471058;CR749809;J05032;NM_001349 AAA35567;AAH00629;AAI07750;AAP35356;AAX07827;AAY15029;AAY24055;ABM81667;ABM84838;BAD96196;BAF83296;CAH18669;EAX11617;EAX11618;EAX11619;EAX11620;NP_001340;P14868 Hs.503787 1669385;1851596;2125483;2156055 D2S2723;RH17849;SHGC-3975;STS-AA018181 DKFZp781B11202;HBSL;MGC111579 OTTHUMP00000162534;aspRS;aspartate tRNA ligase 1, cytoplasmic;aspartate--tRNA ligase;aspartate--tRNA ligase, cytoplasmic;aspartyl-tRNA synthetase, cytoplasmic;cell proliferation-inducing gene 40 protein;cell proliferation-inducing protein 40 APPROVED protein-coding ENSG00000115866 2678 04361 603084;615281 VALIDATED 6482177 DAZAP2P1 DAZ associated protein 2 pseudogene 1 2 q33.1 203064186 203066744 - 645805 ABBA01062554;AC079354;AMYH01011406;NG_008858 1680813 RH80756 pseudo 43869 INFERRED 1347546 DAZ2 deleted in azoospermia 2 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Y Y q11.223 23775010 23846885 + 25365604 25437503 + 6480464 8968756;7670487;8896558;19223287;17416365;16963411;16674553;16580401;16491269;15066460;15066457;12815422;12801575;12752250;12511597;12477932;11883873;11870237;11869379;11694340;11688365;11390979;11095434;11058556;10936047;10903443;10857750;9700189;9557839;9321470;21906983;20301513 57055 B4DZ07;E7EN82;E7ENA6;E7EU39;E9PBY2;I3L0B6;Q13117 AC006983;AC007039;AC053490;AF248480;AF414184;AK302398;AK302690;BC113006;NG_004755;NG_028267;NM_001005785;NM_001005786;NM_020363;U21663 AAB02393;AAF91329;AAI13007;AAL24502;BAG63919;BAH13695;NP_001005785;NP_001005786;NP_065096;Q13117 Hs.592257 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 DAZ3;MGC126442;pDP1678 OTTHUMP00000040905;OTTHUMP00000040906;OTTHUMP00000040907;deleted in azoospermia protein 2;deleted in azoospermia protein 3 APPROVED protein-coding ENSG00000205944 15964 11848 400026 REVIEWED 1345950 DAXX death-domain associated protein This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 6 6 p21.3 33394367 33398682 - 33286335 33290793 - 1580863;6480464;6484113;6907045 22578841;23038753;23135716;23239745;23348568;15572661;10698492;9215629;19369322;19106612;18932217;18566590;18558084;18508722;18480747;18480450;18200667;18031230;18003619;17947514;17942542;17938171;17707345;17661348;17596307;17471023;17404597;17389020;17362989;17289031;17081983;17035242;16818774;16810318;16731959;16679534;16569639;16524876;16475184;16455055;16406523;16331268;16088932;15919932;15861194;15795247;15637079;15489334;15339933;15302935;15258908;15240113;15128734;15033475;14990586;14978102;14678985;14637155;14574404;14557665;14517282;12968034;12954772;12953102;12917339;12595526;12529400;12482984;12482920;12477932;12150977;12140263;12097584;12033769;11948183;11842083;11799127;11773067;11716541;11495919;17081986;20504901;11483955;11244500;11193028;11112409;11034606;11003656;10684855;10669754;10525530;10444590;10393185;9743501;9645950;9545376;9521053;9407001;8125298;18583933;18691969;14499622;11907324;15016915;15247905;15350595;15364927;15604093;15878163;15983381;16845383;18029348;19372739;19563778;19690170;19837266;19851445;19944121;20097304;20147399;20153724;20185822;20444888;20484509;20014998;17210684;19308989;19862764;20936779;19821084;23075851;21474068;21643015;21816224;16287980;16861237;16982744;19394292;20211142;15613319;21252315;15252119;21134643;23142979;20651253;21383010;21482821;21719641;19465479;21526495;23455924;23539629;19789334;21832009;21900206;19471022;22199361;20972456;21693764;21779164;21890473;21906983;22614022;23408605;22185778;22664104;21252943;21573799;22170762;22102817;17360386;20697732;20927612;21724829;17419608;18218622;21572393;21963094;21988832;22609355;23000965;23295648;23391111;23405218;23660862;22976303;21556766;22505724;22572957;22952844;23536002;23548901;22575867;23221555;23221561 1616 A2AB94;B4E1C1;Q4VX54;Q53F85;Q5STR5;Q9UER7 AA533586;AB209493;ABBA01038141;ABBA01038142;AF006041;AF015956;AF039136;AF050179;AF097742;AK223404;AK292187;AK303767;AK303854;AK309612;AK313034;AL662820;AL662827;AMYH01016244;BC000220;BC073776;BC109073;BC109074;BM997178;BX248088;CH471081;CR457085;CR759786;CR759817;DC345308;DC359186;HQ436528;HQ436529;NM_001141969;NM_001141970;NM_001254717;NM_001350;Z97183;Z97184 AAB63043;AAB66585;AAB92671;AAC39853;AAC72843;AAH00220;AAI09074;AAI09075;ABZ92478;AEC33235;AEC33236;BAD92730;BAD97124;BAF84876;BAG35867;BAG64733;BAG64795;CAB09986;CAB09989;CAG33366;EAX03722;EAX03723;EAX03724;NP_001135441;NP_001135442;NP_001241646;NP_001341;Q9UER7 Hs.336916 1793548 PMC230316P1 BING2;DAP6;EAP1;MGC126245;MGC126246 CENP-C binding protein;ETS1-associated protein 1;Fas-binding protein;OTTHUMP00000029289;OTTHUMP00000029290;death domain-associated protein 6;death-associated protein 6;fas death domain-associated protein;hDaxx APPROVED protein-coding ENSG00000204209 2681 04424 603186 REVIEWED 1344002 DAZ3 deleted in azoospermia 3 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008] Y Y q11.223 25318610 25368908 - 26909216 26959639 - 1580863;6480464 19223287;17416365;16963411;15066460;15066457;14639527;12815422;12801575;12752250;12511597;12477932;11883873;11869379;11694340;11688365;11390979;11095434;11058556;10936047;10903443;10857750;9700189;9321470;8968756;8896558;8845845;8661148;7670487;21906983;20301513 57054 E7ERQ6;E7ETR3;E7EU98;E7EUF4;Q9NR90 ABBA01001351;AC010089;AF248481;BC036648;BC113005;NG_004755;NG_028145;NM_020364 AAF91330;AAI13006;NP_065097;Q9NR90 Hs.592257;Hs.70936 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 MGC126441;pDP1679 OTTHUMP00000042590;deleted in azoospermia 3;deleted in azoospermia protein 3 APPROVED protein-coding ENSG00000187191 15965 15959 400027 REVIEWED 7240988 DBF4P1 DBF4 homolog pseudogene 1 10 q21.3 65928714 65929451 - 11181995 645084 ABBA01019514;AC018977;AMYH01002781;CH471083;NG_006968 EAW54248 1774543;1857956 SHGC-53468;SHGC-64833 pseudo 45059 INFERRED 7240980 DBF4P2 DBF4 homolog pseudogene 2 2 112315977 112317514 - 100420180 ABBA01012911;AC017002;AMYH01010941;NG_023599 pseudo 45060 INFERRED 1354496 DAZ4 deleted in azoospermia 4 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011] Y Y q11.223 25389452 25462571 + 26979967 27053187 + 6480464 12752250;11870237;19223287;17416365;16963411;15489334;15066460;15066457;14639527;12815422;12801575;12511597;12477932;11883873;11688365;11390979;11095434;11058556;10936047;10903443;10857750;9847074;9700189;9321470;8968756;8896558;7670487;11869379;11694340;21906983 57135 E7ENA5;E7EU38;F6S8J2;Q658T2;Q86SG3 AA608617;ABBA01001351;AC006338;AC006982;AC010089;AF248482;AF248483;AL833003;BC047480;BC047617;HC006898;HC044617;NG_004755;NM_001005375;NM_020420 AAF91331;AAF91332;AAH47480;AAH47617;CAH56318;CBH19254;CBH30638;NP_001005375;NP_065153;Q86SG3 Hs.522868;Hs.70936 5017302;5104936;5105313;5107369;5113109;5113120;5113990;5115001;5123504 DAZ-SNV_II;G38349;G38350;G65827;G65834;RH38677;RH47942;RH65618;SHGC-35663 pDP1680;pDP1681 OTTHUMP00000042591;OTTHUMP00000042592;OTTHUMP00000042593;deleted in azoospermia 1;deleted in azoospermia protein 4 APPROVED protein-coding ENSG00000205916 15966 13117 REVIEWED 1352695 DAZL deleted in azoospermia-like The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 3 3 p24.3 16603303 16622010 - 16628299 16647006 - 1580863;6480464 8968755;16001084;9288969;19342699;18178196;18088417;18062861;18023443;17918711;16884537;16730721;16573709;16328470;16123080;15879466;15607425;15595957;15520024;15489334;15220464;15066460;12511597;12477932;12414900;12200456;12029071;11956819;11872225;11675467;11499325;11390979;11058556;10903443;10857750;10819768;10819456;10775651;10689024;10527983;10393944;10340994;9700189;9294855;9143498;8968756;8896558;20462796;16344560;19327014;19865085;19881148;20008336;20685756;16751776;21906983;22329245;22162380;22752612 1618 E7EV40;Q92904 ABBA01025129;AC010139;AK303026;AK310341;AMYH01013003;BC027595;BX648638;CH471055;DB080081;HC006900;NG_023329;NM_001190811;NM_001351;U65918;U66078;U66726;U77467;U77476 AAB39935;AAB63596;AAB84361;AAC50813;AAH27595;ABW03677;BAG64152;CAI45996;CBH19255;EAW64278;EAW64279;NP_001177740;NP_001342;Q92904 Hs.131179 1795676;5113109 DAZL__1187;RH65618 DAZH;DAZL1;DAZLA;MGC26406;SPGYLA DAZ homolog;DAZ-like autosomal;OTTHUMP00000211385;OTTHUMP00000211386;SPGY-like-autosomal;deleted in azoospermia-like;deleted in azoospermia-like 1;deleted in azoospermia-like autosomal;germline specific RNA binding protein;spermatogenesis gene on the Y-like autosomal APPROVED protein-coding ENSG00000092345 2685 09029 601486 REVIEWED 1605697 DBF4 DBF4 homolog (S. cerevisiae) 7 7 q21.3 87343480 87376792 + 87505544 87538856 + 6480464;6907045 10373557;15231747;12791985;10846177;15226314;15707391;19111665;18714392;18536724;18503552;18286467;17768177;17276990;16899510;16826239;15374998;15302935;14702039;12853948;12614612;12535533;12477932;12420215;12015319;10523313;15489334;10517317;12441400;19744312;19864417;16912045;21036905;22990118;21536671;22123827;12968034 10926 B4DXK0;F8WF77;Q9UBU7 AACC02000015;AB028069;AB028070;ABBA01045863;AC003083;AC005164;AF160249;AF160876;AK022969;AK292569;AK302010;AK303175;AMYH01017670;BC014909;BC022811;BC035632;BC036045;BC047693;CH236949;CH471091;NM_006716 AAD41911;AAD45357;AAH36045;AAH47693;AAS07418;AAS07442;BAA78326;BAA78327;BAF85258;BAG51144;BAG63412;BAH13912;EAL24170;EAW76930;EAW76931;EAW76932;NP_006707;Q9UBU7 Hs.485380 1756923;1774543;1857956;2108701;2154340 ASK_7983;GDB:1318404;SHGC-144089;SHGC-53468;SHGC-64833 ASK;CHIF;DBF4A;ZDBF1 DBF4-type zinc finger-containing protein 1;OTTHUMP00000161661;OTTHUMP00000207082;activator of S phase kinase;chiffon homolog A;protein DBF4 homolog A;zinc finger, DBF-type containing 1 protein-coding ENSG00000006634 17364 10371 604281 VALIDATED 1344043 DBIL3 diazepam binding inhibitor-like 3 1625 2693 1353371 DBIL4 diazepam binding inhibitor-like 4 2185430 1626 2694 1604789 DBF4B DBF4 homolog B (S. cerevisiae) This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 17 17 17 q21.31 39496480 39540137 + 40141502 40185158 + 42785976 42829637 + 6480464 16189514;15668232;14702039;12477932;12065429;15782160;12975309;16344560;19111665;15717329;18029348 80174 B4E099;Q8NFT6 ABBA01028351;ABBA01028352;ABBA01028353;ABBA01028354;ABBA01028355;AC005180;AC091152;AF448801;AF465820;AK023149;AK125771;AK295296;AK303282;AMYH01008426;AMYH01008427;AW290902;AY358101;BC016158;BC026999;BC033660;BM476186;CH471178;DA475446;NM_025104;NM_145663;NR_036623 AAH16158;AAL75985;AAM73808;AAQ88468;BAB14431;BAG54245;BAG58278;BAG64361;EAW51581;EAW51582;EAW51583;EAW51584;EAW51585;EAW51586;EAW51587;NP_079380;NP_663696;Q8NFT6 Hs.369998 1298232;1335848;2157311;2180872;5015619;5015861;5015961;5016851;5109281;7185938 D10S16;D11S3114;D15S1477;D17S1188;D17S1217;D17S1861;D17S579;D1S1425;RH80031 ASKL1;DRF1;FLJ13087;MGC15009;ZDBF1B ASK-like protein 1;Dbf4-related factor 1;OTTHUMP00000230815;OTTHUMP00000230817;OTTHUMP00000230819;activator of S phase kinase-like protein 1;activator of S-phase kinase-like protein 1;chiffon homolog B;protein DBF4 homolog B;zinc finger, DBF-type containing 1B APPROVED protein-coding ENSG00000161692 17883 16840 611661 REVIEWED 1313216 DAZAP1 DAZ associated protein 1 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1341862 1369681 + 1358584 1386683 + 1407584 1435683 + 1580863;6480464;6907045 10857750;18029348;19285026;18391021;16848763;16209998;15744350;15489334;14702039;12477932;12185095;11604102;21145461;16055720;21576381;21139048;21693764;21890473;21906983;21858080;19322201;23111326;19338310;19738201;21963094;22623428;23658607;22053931;22174317;22505724 26528 K7EJ88;K7EK33;K7EQ02;K7EQ55;K7ERD2;Q96EP5 ABBA01002641;ABBA01002642;ABBA01002643;ABBA01002644;ABBA01002645;AC005329;AC027307;AF181719;AK056850;AK092894;AK124583;AK125032;AL360261;AMYH01009247;AMYH01009248;AMYH01009249;AY681494;BC012062;BI909277;CH471139;HB886995;HC944404;NG_029884;NM_018959;NM_170711 AAF78364;AAH12062;AAW01463;ABZ92479;BAB71295;BAG52625;CBF67654;CBU92528;EAW69501;EAW69502;EAW69503;EAW69504;NP_061832;NP_733829;Q96EP5 Hs.222510 1336257;1652899;1659724;1680331;1684509;1699626;1703202;1736496;1759549;1766921;1856702;2107137;2169211;2219068 A008W37;D15S702E;D19S826;D19S883;DAZAP1_4669;GAMT__6784;RH103416;RH79693;SGC31985;SHGC-152408;SHGC-153221;SHGC-24159;STS-F03983;WI-22459 MGC19907 DAZ-associated protein 1;deleted in azoospermia associated protein 1;deleted in azoospermia-associated protein 1 APPROVED protein-coding ENSG00000071626 2683 08462 607430 REVIEWED 4889622 DBIL5P2 diazepam binding inhibitor-like 5 pseudogene 2 2 2 p15 63189534 63191225 - 63344986 63346677 - 11024294;12174196 100169989 Q9NRE5 ABBA01075398;AC009501;AF229803;AMYH01010396;NR_036635 AAF79121 Hs.606147 ELP1P pseudo ENSG00000242412 38518 VALIDATED 1347265 DBIP1 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1 6 6 6 q14.1 80561469 80562012 - 80203016 80203762 - 80146402 80146945 - 7789980;2185430 1624 ABBA01040409;ABBA01040410;AL078601;L27274;NG_001112 1741487 GDB:181242 DBIL2 APPROVED pseudo 2692 INFERRED 1350044 DBIP2 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2 5 5 5 q14.1 75801973 75802442 - 79934638 79935307 - 79898981 79899450 - 1623 ABBA01062044;AC008434;AMYH01015445;NG_003024 DBIL1 APPROVED pseudo 2691 INFERRED 2301570 DBH-AS1 DBH antisense RNA 1 9 9 9 q34.2 107066595 107069497 - 135509529 135512429 - 136519220 136522435 - 6480464 10686491;12477932 138948 ABBA01021975;AF129263;AF129264;AL365494;AMYH01021809;BC067277;BQ445882;NR_102735;XR_132816;XR_133535;XR_171817 Hs.223858 1298115;1741189 DBH;GDB:178536 NCRNA00118 APPROVED miscrna ENSG00000225756 24155 VALIDATED 4145469 DBIP3 diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 3 16 16 16 p13.3 4387303 4387706 + 4120493 4121096 + 4180593 4180996 + 791082 ABBA01026757;AC009171;AMYH01007100;NG_005846 pseudo 38517 INFERRED 736659 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008] 9 9 q34 135491306 135514287 + 136501485 136524466 + 1625572;1625569;1625571;1358584;1358583;1580863;4139904;5129480;5129693;5130724;5129527;5129235;2311578;5129213;5129515;5129691;5129211;5129532;5129234;5129683;6480464;6907045;7240710 16133787;17095019;16252068;12707943;14991826;19342614;19968782;12969876;16396986;19120095;20554938;18823370;20673300;19276553;18356740;20814407;18987458;20596792;18457899 21126477;3443096;14718574;19415821;19360691;19352218;19219470;19156168;19152006;19107190;19086053;19058789;19016604;18982239;18973765;18821566;18821565;18722802;18486967;18404133;18338249;18330705;18275850;18270970;18207134;18173840;18172755;18081028;18032384;18030083;17853400;17728669;17625104;17503507;17503472;17457369;17200925;17187001;17171650;17157269;17131588;16876143;16831359;16741944;16616989;16616730;16389711;16335952;16272956;16152569;16097364;16032443;15767706;15505174;15489334;15205702;15167700;15164053;15102340;15077009;15028279;12960750;12833405;12778453;12730829;12660802;12624717;12555232;12488060;12477932;12360111;11943777;11904130;11904129;11857564;11170900;11140838;10887204;10686491;10490716;10391210;10391209;10075201;9763470;9688506;8546710;7918370;7759508;3972830;3180847;2922261;19913121;20602615;20628086;15498570;15796803;19506906;19560519;19604093;19673036;19757024;19772578;19851296;19874574;19944766;20006992;20009769;20035263;20127808;20198315;20350135;20418890;20430042;20464528;20468064;20498626;20505554;20129829;20691427;20732903;20734064;20931244;21070631;20301647;21209083;22871345;22760354;22765285;22906516;21685187;20621148;21538940;21668745;21509519;21761554;22028891;23384717;22761865;21471955;21688126;22408582;2880016;22445279;23054588;23464991;23261162;22513716;22895683 1621 P09172;Q5T382 ABBA01021975;AC000404;AC001227;AC002101;AL365494;AMYH01021809;BC017174;CD014125;CH471090;NG_008645;NM_000787;X13255;X13256;X13257;X13258;X13259;X13260;X13261;X13262;X13263;X13264;X13266;X13267;X13268;X14357;Y00096 AAH17174;ABM84556;ABW03484;CAA31631;CAA31632;CAA68285;EAW88099;NP_000778;P09172 Hs.591890 1298115;1741189;1744689;1744711;1744713;1795678 DBH;DBH_579;GDB:178536;GDB:551079;GDB:554666;GDB:554668 DBM OTTHUMP00000022501;dopamine beta hydroxylase;dopamine beta-hydroxylase APPROVED protein-coding ENSG00000123454 2689 01963 223360;609312 REVIEWED 4889641 DBIL5P diazepam binding inhibitor-like 5, pseudogene 17 17 17 p13.3 667992 670668 + 602213 603475 + 655573 658576 + 6480464 11024294;16344560 100131454 ABBA01054619;AC087392;AF229804;AMYH01007979;CH471108;DA393494;NR_024120 AAF79122;EAW90652 Hs.662289 1697540;1736923 D17S1569;RH102276 ELP2P pseudo ENSG00000231784 38519 VALIDATED 1316588 DAZAP2 DAZ associated protein 2 This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 12 12 12 q12 50433966 50441964 + 49918893 49923834 + 51632508 51640501 + 1580863;6480464 16713569;17935665;16189514;15629043;15489334;15231748;14702039;14530442;12477932;11342538;10857750;7584044;16169070;16344560;17984221;19060904;8889548;19304756;17207965;20211142;22070932;21274613;21906983;21900206;21963094;21988832;22792345;19322201;22318606;18762249;22505724 9802 E9PB45;E9PE89;F8VUW5;Q15038 ABBA01031607;AC046135;AC139768;AK095963;AK125855;AK290119;AK293330;AK303828;AMYH01004463;AY430097;BC002334;BC007900;BM982980;BU662353;BX647278;CD697667;CH471111;D31767;DA900264;DC303613;DC341917;NM_001136264;NM_001136266;NM_001136267;NM_001136268;NM_001136269;NM_014764 AAH02334;AAH07900;AAR11454;ADQ31699;BAA06545;BAF82808;BAG56846;BAG64775;EAW58181;EAW58182;NP_001129736;NP_001129738;NP_001129739;NP_001129740;NP_001129741;NP_055579;Q15038 Hs.369761 1655057;1657465;1680813;1685766;1760775;1770115;2165635;2171187;2171189;2189347;5015961 A006B21;D12S1777;D12S1951;D15S1477;G07246;G15861;G20676;MARC_2333-2334:991932698:1;RH80756;RH94292;SHGC-144292 KIAA0058;MGC14319;MGC766;PRTB DAZ-associated protein 2;OTTHUMP00000241783;OTTHUMP00000241785;OTTHUMP00000241786;OTTHUMP00000241787;OTTHUMP00000241788;OTTHUMP00000246201;deleted in azoospermia associated protein 2;deleted in azoospermia-associated protein 2;proline-rich transcript in brain;proline-rich transcript, brain-expressed protein APPROVED protein-coding ENSG00000183283 2684 08463 607431 REVIEWED 1351191 DBPHT1 DNA binding protein with his-thr domain 1 387125 23361 1353877 DBPHT2 DNA binding protein with his-thr domain 2 387124 23359 1604304 DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 16 16 16 q24.3 75136096 75150124 - 88598780 88613438 - 90071279 90085937 - 6480464 19077176;16341674;14702039;12477932;19340012;19349376 79007 H3BLZ2;H3BS76;Q9H9R9 ABBA01014117;AC092143;AC133919;AK022644;AK090696;AK090965;AK096507;AK298932;AK308737;AL713678;AMYH01007941;BC000700;BM747302;CH471184;NM_001042610;NM_024043 AAH00700;BAB14152;BAG61035;CAH10640;EAW66663;EAW66664;EAW66665;EAW66666;NP_001036075;NP_076948;Q9H9R9 Hs.301394 1683351;2119992;2139272;2178349 RH41854;RH64905;RH69962;SHGC-61113 FLJ12582;MGC3101 OTTHUMP00000176844;OTTHUMP00000176845;dysbindin domain-containing protein 1 protein-coding ENSG00000003249 28455 08327 VALIDATED 733159 DBP D site of albumin promoter (albumin D-box) binding protein The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythym genes. [provided by RefSeq, Jan 2012] 19 19 q13.3 53825754 53832400 - 49133817 49140639 - 1625350;1580863;6480464 17002564 8786133;19302999;19109932;18721734;18228528;18038108;18035050;17342072;17213182;16868893;16637263;16528748;15820770;15489334;12968673;12805554;12477932;12062854;12044990;11230793;10708517;10650888;10508692;10364202;10073576;9110174;8903733;8619474;8499951;8482542;7958972;7835883;1535333;21411511;19488670;19543766;19642159;19693801;19839995;20007432;20072116;20174623;21926972;21988832;23128233 1628 M0QXP1;M0QXW3;Q10586 AB208807;ABBA01032978;ABBA01032979;ABBA01032980;AC008888;AC022154;AK310025;AMYH01009904;BC011965;BT006836;CA425431;CH471177;D28468;DT217864;EF015902;NM_001352;U06936;U48213;U79283 AAA81374;AAB18668;AAB50219;AAH11965;AAP35482;ABM64213;BAA05833;BAD92044;EAW52372;EAW52373;EAW52374;EAW52375;NP_001343;Q10586 Hs.414480;Hs.528006 1688444;2158876;5020635;5024761;5037552;5112293 D7S3207;D8S2279;RH103095;RH36905;RH47213;RH75877 DABP D site-binding protein;albumin D box-binding protein;albumin D-element-binding protein;d site albumin promoter binding protein;tax-responsive enhancer element-binding protein 302;taxREB302 APPROVED protein-coding 2697 00497 124097 REVIEWED 1605302 DBX1 developing brain homeobox 1 11 11 11 p15.1 20310390 20314496 - 20134336 20138446 - 20177760 20181870 - 6480464 11239429;21048147 120237 A6NMT0;F8W811 ABBA01061034;AC068860;AMYH01003434;CH471064;NM_001029865 A6NMT0;AAI56155;AAI72465;EAW68342;NP_001025036 Hs.558604 OTTHUMP00000231784;developing brain homeobox protein 1;homeobox protein DBX1 protein-coding ENSG00000109851 33185 18721 VALIDATED 736302 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 2 2 q12-q21 119840974 119846592 + 120124504 120130122 + 1580863;6480464 3020548;19088433;19086053;18240651;17266179;17262885;17044054;16908521;16904689;16344560;16055366;16042405;15815621;15489334;15342556;14755437;14602800;12665801;12477932;12396232;12015306;10737800;9657356;9477145;9022045;8964506;8634149;8396705;8245508;8043504;7794798;7789980;7626442;7534063;7527352;3525533;3413112;2881742;1469708;1440058;16169070;19815704;19874574;20511713;17207965;20345851;21448843;21139048;21890473;21900206;21906983;23000965;23251661;22053931 1622 B8ZWD1;Q9UCI8 AA096224;ABBA01045926;AC016736;AM000001;AMYH01010987;BC006466;BC062996;BF801230;BP294452;BP318721;BU599304;CH471103;CR456956;DA226476;FM213122;FM213123;FM213124;FM213125;FM213126;FM213127;FM213128;FM213129;FM213130;FM213131;L76366;M14200;M15887;NM_001079862;NM_001079863;NM_001178017;NM_001178041;NM_001178042;NM_001178043;NM_020548 AAA35788;AAA52171;AAH62996;AAY14873;ADQ33132;CAG33237;CAJ00736;CAR82404;CAR82405;CAR82406;CAR82407;CAR82408;CAR82409;CAR82410;CAR82411;CAR82412;CAR82414;EAW95214;EAW95215;EAW95216;NP_001073331;NP_001073332;NP_001171488;NP_001171512;NP_001171513;NP_001171514;NP_065438;P07108 Hs.78888 1741487;1775790;2145860;2167424 D2S1604E;D2S2591;GDB:181242;WI-18848 ACBD1;ACBP;CCK-RP;EP;MGC70414 GABA receptor modulator;OTTHUMP00000203626;OTTHUMP00000203627;OTTHUMP00000203628;OTTHUMP00000203629;acyl coenzyme A binding protein;acyl-CoA-binding protein;acyl-Coenzyme A binding domain containing 1;cholecystokinin-releasing peptide, trypsin-sensitive;diazepam binding inhibitor;diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein);diazepam-binding inhibitor;endozepine APPROVED protein-coding ENSG00000155368 2690 08832 125950 REVIEWED 1605171 DBX2 developing brain homeobox 2 12 12 12 q12 44211912 44248577 - 43694806 43731149 - 45408539 45444882 - 11239429;20379614 440097 Q6ZNG2 ABBA01031438;ABBA01031439;AC008127;AC079033;AC089986;AK131230;AMYH01004420;CH471111;NM_001004329 AAI48396;BAD18413;EAW57876;EAW57877;NP_001004329;Q6ZNG2 Hs.302764 2120258 G31040 FLJ16139 OTTHUMP00000241547;developing brain homeobox protein 2;homeobox protein DBX2 protein-coding ENSG00000185610 33186 16910 VALIDATED 1313063 DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2 20 20 20 q13.12 40743180 40747756 + 43468085 43472661 + 44034633 44039250 + 6480464 16618118;16381901;16341674;16305340;16303743;16189514;15489336;15489334;15342556;14702039;12477932;11780052;11076863;10931946;17213182;15146197;16712791 55861 H0Y7N7;Q9NY07 ABBA01052660;AF220191;AJ276469;AK000531;AL021578;AL591565;AMYH01011937;AW516035;AY113697;BC001105;BC012818;BG703352;BI666711;BM767886;BP308674;BP330715;BQ787725;BX335176;CB155210;CH471077;CN347771;DT216122;NM_001048221;NM_001048222;NM_001048223;NM_001048224;NM_001048225;NM_001048226;NM_001197139;NM_001197140;NM_018478 AAF67656;AAH01105;AAH12818;AAM77463;BAA91235;CAB83042;CAC39141;CAL38004;CAL38274;CAL38557;EAW75848;EAW75849;EAW75850;EAW75852;EAW75853;EAW75854;NP_001041686;NP_001041687;NP_001041688;NP_001041689;NP_001041690;NP_001041691;NP_001184068;NP_001184069;NP_060948;Q9BQY9 Hs.730643 2140419;2140421;2172654 A002A22;G19851;STS-Z40239 C20orf35;CK1BP;HSMNP1 OTTHUMP00000031114;OTTHUMP00000031115;OTTHUMP00000031116;OTTHUMP00000031117;OTTHUMP00000031118;OTTHUMP00000031119;OTTHUMP00000031120;OTTHUMP00000031121;OTTHUMP00000031122;SCF apoptosis response protein 1;casein kinase-1 binding protein;dysbindin domain-containing protein 2 protein-coding ENSG00000244274 15881 12763 611453 VALIDATED 1606301 DBNL drebrin-like 7 7 p13 44050830 44067840 + 44084239 44101315 + 6480464 10567356;17353931;18829961;17306257;17081983;16964243;16189514;16094384;16055701;15637062;15592455;15498874;15489334;15144186;14729663;14702039;14557276;12913069;12690205;12565838;12477932;11689006;11595038;10087302;9891087;9858486;21145461;19336002;19060904;17207965;22863883;22450813;21139048;21890473;21906983;21044950 28988 B4DDD6;B4DDP6;B4DEM2;C9J7P1;F2Z2V3;F2Z3E3;F8WB73;F8WBB2;F8WBG8;F8WC20;F8WCK3;F8WFE1;H0Y5J4;H7C111;Q9UJU6 AACC02000110;AB209486;ABBA01058213;AC017116;AF077353;AF151364;AF197060;AF218020;AF250287;AK027367;AK126142;AK293151;AK293279;AK293340;AK293698;AK296778;AK298102;AK300630;AK302037;AMYH01017208;BC011677;BC023589;BC031687;CH236960;CH471128;CR457167;DC404852;NM_001014436;NM_001122956;NM_014063 AAF13701;AAF80228;AAF81273;AAG13120;AAG17262;AAH11677;AAH31687;ADQ32376;ADZ15360;BAB55065;BAD92723;BAG56697;BAG56807;BAG56856;BAG57133;BAG59356;BAG60387;BAG62321;BAG63431;CAG33448;EAL23770;EAW61129;EAW61130;EAW61131;EAW61132;NP_001014436;NP_001116428;NP_054782;Q9UJU6 Hs.436500 1767349;1852615;2128737;5014051;5016478;5017433;5020740;5022651;5037552 ABP1;D11S2921;D7S2745;D8S2278;D8S2279;GDB:434012;L17809;RH71199;STS-T76997 ABP1;HIP-55;SH3P7 HPK1-interacting protein of 55 kDa;OTTHUMP00000207761;OTTHUMP00000207763;OTTHUMP00000207764;OTTHUMP00000207765;OTTHUMP00000207768;OTTHUMP00000214095;OTTHUMP00000214096;OTTHUMP00000214097;SH3 domain-containing protein 7;cervical SH3P7;cervical mucin-associated protein;drebrin-F;drebrin-like protein;src homology 3 domain-containing protein HIP-55 protein-coding ENSG00000136279 2696 06588 610106 VALIDATED 1323625 DBR1 debranching enzyme homolog 1 (S. cerevisiae) The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011] 3 3 3 q22.3 136304598 136318559 - 139362542 139376463 - 137879830 137893791 - 1580863;6480464 21145461;10982890;17081983;16232320;15489334;14702039;12477932;11886864;2435736;1850323;10737800;12766061;21139048;21906983 51163 F5GWV2;F8WAY1;Q9UK59 ABBA01059094;AC023049;AC068777;AF180919;AK000116;AK094147;AL702928;AMYH01013531;BC009472;BF987317;BM150284;CD677175;CH471052;NM_016216 AAD53327;AAH09472;ABM86346;ABW03783;BAA90954;BAG52827;EAW79083;NP_057300;Q9UK59 Hs.477700 2110357 DBR1_9677 OTTHUMP00000216654;RNA lariat debranching enzyme;lariat debranching enzyme APPROVED protein-coding ENSG00000138231 15594 07384 607024 REVIEWED 1347831 DCAF12L1 DDB1 and CUL4 associated factor 12-like 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] X X X q25 126067577 126071053 - 125511050 125514515 - 125683366 125686842 - 737633;6480464 12477932 16949367 139170 Q5VU92 ABBA01047466;ABBA01047467;AI139786;AL590425;AMYH01022954;BC035674;BM563914;CH471107;DN999337;NG_012689;NM_178470 AAH35674;EAX11841;NP_848565;Q5VU92 Hs.120403 1683541 RH98936 KIAA1892L;WDR40B DDB1- and CUL4-associated factor 12-like protein 1;KIAA1892-like;OTTHUMP00000023979;WD repeat domain 40B;WD repeat-containing protein 40B APPROVED protein-coding ENSG00000198889 29395 06604 REVIEWED 732725 DBN1 drebrin 1 The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 q35.3 176816220 176833271 - 176883614 176900694 - 1580863;6480464 12761245;12009525;18338803;17081983;16780834;16381901;16344560;16094384;15489336;15489334;15345747;15302935;14702039;14506234;12676529;12665801;12477932;11578820;11256614;11230166;11076863;10604653;10585290;9473484;8838578;8216329;8125298;7608104;16169070;15084279;18806788;20183806;21124928;21182205;22939629;21497902;17620599;22266860;22703881;21139048;21900206;21906983;16300736;20473970;21044950;22310934;19738201;21080425;22275434;23000965;20876399;22505724;23084401;23201135 1627 A8MV58;D6R9Q9;D6R9W4;D6RCR4;D6RFI1;F8W9Z3;Q16643 ABBA01033455;ABBA01033456;AC145098;AI683844;AK094125;AK225523;AK295295;AK314645;AL110225;AMYH01015874;AMYH01015875;AMYH01015876;AW950551;BC000283;BC007281;BC007567;BC114553;BF205663;CH471195;D17530;DA245346;DR158741;NM_004395;NM_080881;U00802 AAA16256;AAH00283;AAH07281;AAH07567;BAA04480;BAG37207;BAG52819;BAH12026;CAB53683;CAL38314;EAW84989;EAW84990;EAW84991;EAW84992;EAW84993;NP_004386;NP_543157;Q16643 Hs.130316 1794652;2165622;2189329;2218762;5021700 A002E15;DBN1__4671;MARC_1067-1068:991929590:7;PMC343817P1;ksks27 D0S117E;DKFZp434D064 OTTHUMP00000161448;OTTHUMP00000161449;OTTHUMP00000165798;OTTHUMP00000223806;developmentally-regulated brain protein;drebrin;drebrin E;drebrin E2;drebrin-1 APPROVED protein-coding ENSG00000113758 2695 00545 126660 REVIEWED 6482594 DCAF13P1 DDB1 and CUL4 associated factor 13 pseudogene 1 7 q22.3 105765777 105768341 + 9847074 100129009 AACC02000004;ABBA01057931;AC005095;AMYH01017821;CH236947;NG_012000 1655507 RH65390 pseudo 43866 INFERRED 6482610 DCAF13P2 DDB1 and CUL4 associated factor 13 pseudogene 2 5 p15.1 17202347 17203254 + 100288979 ABBA01020690;AC091878;AMYH01014934;NG_021876 pseudo 43867 INFERRED 6482595 DCAF13P3 DDB1 and CUL4 associated factor 13 pseudogene 3 15 q21.2 51236326 51238770 + 16344560 100132724 ABBA01039090;AC022407;AMYH01006641;DB137411;DB355622;NG_031875;NR_027642 Hs.730493 pseudo 43868 VALIDATED 68592 DBT dihydrolipoamide branched chain transacylase E2 The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 p31 100425066 100487997 - 100652478 100715409 - 734877;1580863;6480464;6907045;7240710 10915611 1429740;18063578;18533943;18378174;17922217;16861235;16344560;15489334;14768949;12477932;11839747;11509994;11448970;9621512;8430702;7918575;7672509;6895847;3245861;3189339;2932110;2837277;2742576;2708389;2010537;2001734;1990841;1943690;1889817;1847055;1420314;17353931;19480318;19615732;20570198;18029348;20877624;16159877;20301495;22939629;19167051;21642987;23313820 1629 P11182;Q5VVL7 ABBA01045442;ABBA01045443;ABBA01045444;ABBA01045445;AK024946;AK303941;AK313191;AL445928;AMYH01000825;BC016675;BC030002;BT007372;CH471097;DA274670;J03208;M19301;M27093;NG_011852;NM_001918;X57676;X57677;X66785;X68104 AAA35589;AAA59200;AAA64512;AAH16675;AAP36036;BAG36008;BAG64869;CAA47285;CAA48225;EAW72963;NP_001909;P11182 Hs.709187 1663296;1680869;1689348;1703246;2133343;2136140;5016478;5020274;5020881;5020946;5022576;5022578;5022651 D11S2921;D1S1361;D1S1423;D1S3592;GDB:434012;L17709;L17971;L18441;RH39750;RH39768;SGC31939;SHGC-35260;SHGC-75206 BCATE2;BCKAD-E2;BCKADE2;E2;E2B;MGC9061 BCKAD E2 subunit;BCKAD-E2;BCKADE2;E2 component of branched chain alpha-keto acid dehydrogenase complex;OTTHUMP00000012596;branched chain acyltransferase, E2 component;branched-chain alpha-keto acid dehydrogenase complex component E2;dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex;dihydrolipoyl transacylase;dihydrolipoyllysine-residue (2-methylpropanoyl)transferase;lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial;lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex;mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) APPROVED protein-coding 2698 02010 248600;248610 REVIEWED 1352348 DCAF10 DDB1 and CUL4 associated factor 10 9 9 9 p13.2 37733985 37800841 + 37790790 37857666 + 37800790 37867666 + 1580863;6480464 21145461;14702039;12477932;16169070;16949367;16964240;19596235;21139048;21890473;20360068;19295130;22505724 79269 Q5QP82 ABBA01050385;ABBA01050386;ABBA01050387;AK023620;AK026854;AK074532;AK309712;AK315756;AL138752;AL533994;AMYH01019361;BC003520;BC011959;BC108686;BC139834;CB045943;CD299973;CH471071;NM_024345 AAH03520;AAH11959;AAI08687;AAI39835;BAB15574;BAC11043;EAW58261;EAW58262;EAW58263;NP_077321;Q5QP82 Hs.118394 1674311;1676878;1679728;1686696;1689079;1697622;2107355;2115972;2140711;2170089;2184862;5015861;5016478;5022200;5022383;5037552;7185938 D10S16;D8S2279;ECD04345;GDB:434012;L18426;MGC10765__7658;RH102323;RH18370;RH44792;RH65217;RH69970;RH91564;SGC30269;SHGC-36380;WI-10169;WI-20545 FLJ23201;MGC10765;MGC131781;WDR32 DDB1- and CUL4-associated factor 10;OTTHUMP00000021395;WD repeat domain 32;WD repeat-containing protein 32 protein-coding ENSG00000122741 23686 08319 VALIDATED 1346609 DCAF12 DDB1 and CUL4 associated factor 12 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009] 9 9 9 p13.3 34018151 34058841 - 34076386 34116736 - 34086381 34126771 - 6480464 18957058;19295130;16949367;16341674;15761153;12477932;11572484;9110174;8619474;21145461;16964240;18096478;19343178;20360068;21139048;21906983;19322201 25853 Q9NXA9 AB067479;ABBA01065021;ABBA01065022;ABBA01065023;ABBA01065024;AF085907;AF131771;AI140359;AK000354;AK292935;AL117646;AL354989;AMYH01019332;AMYH01019333;BC008893;BC063823;BC127177;BG718613;BM144957;BM194397;BM747928;CH471071;DQ518909;NM_015397 AAH08893;AAH63823;ABG24246;BAA91106;BAB67785;BAF85624;CAB56028;EAW58472;EAW58473;EAW58474;NP_056212;Q5T6F0 Hs.493750;Hs.741270 1721359;2130572;2187127 G59679;RH45345;STS-W90655 CT102;DKFZp434O125;KIAA1892;MGC1058;TCC52;WDR40A DDB1- and CUL4-associated factor 12;OTTHUMP00000021241;WD repeat domain 40A;WD repeat-containing protein 40A;cancer/testis antigen 102;centrosome-related protein TCC52;testis cancer centrosome-related protein APPROVED protein-coding ENSG00000198876 19911 10031 REVIEWED 1603495 DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010] X X X q25 125683150 125685748 - 125126195 125127615 - 125297482 125300080 - 6480464 21145461;12477932;16949367 340578 Q5VW00 ABBA01047430;AL445072;AMYH01022952;AY726580;BC136673;BC136674;CH471107;NG_021265;NM_001013628 AAI36674;AAI36675;EAX11842;NP_001013650;Q5VW00 Hs.181867 1671660 WI-11117 WDR40C DDB1- and CUL4-associated factor 12-like protein 2;KIAA1892-like;OTTHUMP00000023977;WD repeat domain 40B-like;WD repeat-containing protein 40C APPROVED protein-coding 32950 15323 REVIEWED 1322665 DCAF11 DDB1 and CUL4 associated factor 11 This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] 14 14 14 q11.2 4448376 4458921 + 23653861 23664291 + 24583906 24594451 + 6480464 18247557;21145461;19109893;19295130;19273594;16344560;15489334;15342556;14702039;12508121;12477932;16949367;16964240;19615732;20562859;22863883;21139048;17079684;20360068;22118674;22190034;22190037 80344 B3KSW2;H0YKR8;H0YL29;H0YL64;H0YL98;H0YLB2;H0YLF1;H0YLH4;H0YLQ1;H0YLX7;H0YM56;H0YM86;H0YMF7;H0YMN6;H0YMZ4;H0YN03;H0YN15;H0YN21;H0YN92;H0YNK2;H0YNS2;H0YNT0;Q59GN6;Q9H3A3 AB209073;ABBA01061331;AF130070;AF267858;AK027223;AK057636;AK074296;AK091857;AK094478;AK292797;AK296742;AK307849;AL136295;AL833831;AMYH01005610;BC008858;BC067132;BP245093;BX161405;BX247970;BX406971;BX648224;CD644652;CH471078;DB003266;DB212727;NM_001163484;NM_025230;NM_181357;NR_028099;NR_028100 AAG35498;AAG44727;AAH08858;AAH67132;BAB15698;BAB85041;BAD92310;BAF85486;BAG51945;BAG52874;BAG59326;CAD38691;CAD61885;CAD62308;EAW66108;EAW66109;EAW66110;EAW66111;EAW66112;EAW66113;EAW66114;NP_001156956;NP_079506;NP_852002;Q8TEB1 Hs.525251 1736452;2132159;2140449 D14S711E;RH11282;RH1634 DKFZp779A1629;GL014;PRO2389;WDR23 DDB1- and CUL4-associated factor 11;OTTHUMP00000164696;OTTHUMP00000164697;OTTHUMP00000164698;WD repeat domain 23;WD repeat-containing protein 23 APPROVED protein-coding ENSG00000100897 20258 18297 613317 REVIEWED 1604028 DCAF13 DDB1 and CUL4 associated factor 13 8 8 8 q22.3 100613481 100642207 + 104496118 104524376 + 104426942 104455681 + 6480464 14702039;12477932;11790298;11042152;16949367;20601284;22990118;21900206;21139048;21890473;21906983;22318606;22586326;22505724;22797925 25879 E5RHM4;E5RJ28;E7EVM5;Q9NV06 ABBA01037636;AC012213;AF161549;AK001693;AK001874;AK027799;AK074725;AL117609;AMYH01018944;BC026067;BC035190;BC101810;BC107790;BC112042;CA429438;CH471060;NM_015420 AAF29036;AAH26067;AAI01811;AAI12043;BAA91955;BAB55377;BAC11163;BAG50961;EAW91879;EAW91880;EAW91881;EAW91882;EAW91883;NP_056235;Q9NV06 Hs.532265 1655507;5037552;5118800 D11S3663;D8S2279;RH65390 DKFZp564O0463;GM83;HSPC064;MGC126859;MGC138247;WDSOF1 DDB1- and CUL4-associated factor 13;OTTHUMP00000227826;WD repeat and SOF domain-containing protein 1;WD repeats and SOF1 domain containing protein-coding ENSG00000164934 24535 08528 VALIDATED 2306328 DCAF15 DDB1 and CUL4 associated factor 15 19 19 19 p13.12 13956945 13965882 + 13924319 13933256 + 14063319 14072256 + 6480464 14702039;12477932;16949367;20360068;19295130 90379 K7ELE9;K7ENG0;K7ERN0;Q66K64 ABBA01029704;AC020916;AK093072;AMYH01009517;BC002926;BC013280;BC018894;BC018895;BC068994;BC080575;CH471106;NM_138353 AAH02926;AAH13280;AAH80575;BAG52648;EAW84386;NP_612362;Q66K64 Hs.443636 1696984;1699048;2165713 RH101964;RH103099;RH36280 C19orf72;MGC99481 DDB1- and CUL4-associated factor 15 protein-coding ENSG00000132017 25095 PROVISIONAL 1605035 DCAF17 DDB1 and CUL4 associated factor 17 This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 165907349 165958150 + 171999105 172049808 + 172290761 172341562 + 6480464;7240710 19026396;14702039;12477932;8889548;20507343;20562859;16949367;17588513;21044051;21304230;21964978;21963443;21906983;23447832;19295130 80067 F5H7W1;H0Y2X0;H7C1H3;H7C244;Q5H9S7 ABBA01020725;ABBA01020726;AC007969;AK021599;AK023158;AK126198;AK307877;AMYH01011262;BC120957;BC120958;BC140843;BC144653;BM676973;CA314004;CH471058;CR933646;NG_013038;NM_001164821;NM_025000;NR_028482 AAI20958;AAI20959;AAI40844;AAY14729;BAB14436;CAI45947;EAX11212;EAX11213;NP_001158293;NP_079276;Q5H9S7 Hs.659439 1728609;1776895;5491278 G63596;MARC_7293-7294:992008316:3;RH69409 C2orf37;DKFZp781C2086;FLJ13096;FLJ44210 DDB1- and CUL4-associated factor 17;OTTHUMP00000163091 APPROVED protein-coding ENSG00000115827 25784 08579 241080;612515 REVIEWED 1603212 DCAF16 DDB1 and CUL4 associated factor 16 4 4 4 p15.31 18267259 18277362 - 17411376 17421479 - 17802278 17812381 - 6480464 14702039;12477932;21145461;16949367;22990118;20360068;21139048;21890473;21906983;19295130;22190034;22505724 54876 Q9NXF7 ABBA01032617;AC005768;AK000287;AK056116;AMYH01014035;BC014536;BC050697;BC068025;BC101716;BC101718;CH471069;NM_017741 AAH50697;AAH68025;AAI01717;AAI01719;BAA91056;BAG51629;EAW92784;NP_060211;Q9NXF7 Hs.614787 1697854;1769468;5015959;5020740;5022578;5024413;5037554;5112161;5493311 D10S2448;D1S1423;D8S2282;L17809;L17877;RH102048;RH102454;SHGC-16179;UniSTS:485673 C4orf30;FLJ20280;MGC126765;MGC126767 DDB1- and CUL4-associated factor 16;OTTHUMP00000158670 protein-coding ENSG00000163257 25987 07891 PROVISIONAL 1604959 DCAF4L1 DDB1 and CUL4 associated factor 4-like 1 4 4 4 p13 42427549 42432322 + 41678470 41683241 + 41983713 41988484 + 6480464 16344560;14702039;12477932;21145461 285429 Q3SXM0 ABBA01014278;AC106052;AK122914;AMYH01014133;BC035027;BC052943;BC104224;BC104225;CH471069;DB100231;HC007382;NM_001029955 AAH35027;AAH52943;AAI04225;AAI04226;BAG53795;CBH19496;EAW92995;NP_001025126;Q3SXM0 Hs.213307 5493473 UniSTS:486626 MGC126021;MGC126022;WDR21B DDB1- and CUL4-associated factor 4-like protein 1;OTTHUMP00000218394;WD repeat domain 21B;WD repeat-containing protein 21B protein-coding ENSG00000182308 27723 18775 VALIDATED 1350946 DCAF6 DDB1 and CUL4 associated factor 6 1 1 1 q24.2 141015162 141154064 + 166172532 166311705 + 167905797 168045081 + 737633;6480464 12477932 15784617;19064610;18673574;17984071;16341674;15761153;14702039;21145461;16169070;16949367;16964240;19536175;16344560;22863883;20360068;22177699;22037555;21139048;21890473;21906983;19295130 55827 F2Z305;Q58WW2 ABBA01047235;ABBA01047236;ABBA01047237;ABBA01047238;ABBA01047239;AF116725;AF124434;AF150734;AK000984;AK093970;AK226181;AK297847;AL031287;AL033531;AL033532;AL136738;AMYH01001484;AY766164;BC025262;BM822167;BQ028917;CA310484;CH471067;DA128283;DQ768089;NM_001017977;NM_001198956;NM_001198957;NM_018442;Z97876 AAF67474;AAH25262;AAO15301;AAX09330;ABG76793;ABM83069;ABM86263;BAG60180;CAB66672;EAW90808;EAW90809;EAW90810;EAW90811;EAW90812;NP_001017977;NP_001185885;NP_001185886;NP_060912;Q58WW2 Hs.435741 1342270;1672929;1690682;1692138;1737311;1759011;1789128;2126756;2136272;7186660 AL034023;D16S2649;D1S2526;D1S445;G65700;RH45687;RH45968;RH64705;SHGC-150578 1200006M05Rik;ARCAP;FLJ23798;IQWD1;MSTP055;NRIP;PC326;RP4-745I14.1 DDB1- and CUL4-associated factor 6;IQ motif and WD repeat-containing protein 1;IQ motif and WD repeats 1;OTTHUMP00000032522;OTTHUMP00000032524;OTTHUMP00000082621;androgen receptor complex-associated protein;nuclear receptor interaction protein protein-coding ENSG00000143164 30002 17156 610494 VALIDATED 1346743 DCAF8L1 DDB1 and CUL4 associated factor 8-like 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010] X X X p21.3 32124378 32127834 - 27906031 27909487 - 27996110 27999566 - 16949367;20932654 139425 A6NGE4 ABBA01072694;ABBA01072695;AC004553;AK128123;AMYH01022177;CH471074;NG_021357;NM_001017930 A6NGE4;BAG54633;EAW99044;EAW99045;NP_001017930 Hs.447365 5094884 WDR42A FLJ46244;WDR42B DDB1- and CUL4-associated factor 8-like protein 1;OTTHUMP00000023096;WD repeat domain 42B;WD repeat-containing protein 42B APPROVED protein-coding ENSG00000226372 31810 18551 REVIEWED 1314746 DCAF4 DDB1 and CUL4 associated factor 4 This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] 14 14 14 q24.3 53456192 53489495 + 72462838 72496110 + 73393040 73426357 + 6480464 16949367;15489334;14702039;12477932;21145461;17207965;16964240;19615732;20360068;21139048;21890473;21906983;22366774;22505724 26094 B2RDD6;B4DN30;D6RCB5;G3V3D6;Q86SY2;Q8WV16 ABBA01030777;AC007160;AK027745;AK297571;AK297742;AK300786;AK315499;AL080157;AL442663;AMYH01005841;BC018979;BC035901;BX161489;BX247962;CH471061;DC314513;NM_001163508;NM_001163509;NM_015604;NM_181340;NM_181341 AAH18979;AAH35901;ADQ32852;ADR82688;BAB55337;BAG37883;BAG59962;BAG60092;BAG62448;CAB45748;CAD61938;CAD62301;EAW81081;EAW81082;EAW81083;NP_001156980;NP_001156981;NP_056419;NP_851937;NP_851938;Q8WV16 Hs.331491 1653411;1658494;1670650;1674282;1721027;1762997;1775309;2124986;2138906;2148296;2163929;2165518;2181450;5021872 G35972;G38086;G38165;G38183;G38186;G38190;G38199;G38243;G38281;G38285;G59495;SHGC-146741;WI-13373;sY3084 DKFZp434K114;MGC20547;MGC46524;WDR21;WDR21A DDB1- and CUL4-associated factor 4;OTTHUMP00000218437;OTTHUMP00000218708;OTTHUMP00000218709;OTTHUMP00000218710;OTTHUMP00000245913;OTTHUMP00000245914;WD repeat domain 21A;WD repeat-containing protein 21A APPROVED protein-coding ENSG00000119599 20229 15664 REVIEWED 1606458 DCAF4L2 DDB1 and CUL4 associated factor 4-like 2 8 8 8 q21.3 85077604 85080929 - 88952095 88955412 - 88882971 88886296 - 6480464 15489334;14702039;12477932 138009 Q8N7W3;Q8NA75 ABBA01037378;AC005066;AK093094;AK097600;AL833507;AMYH01018866;BC035011;BC111778;CH471060;NM_152418 AAI11779;BAC04051;BAC05113;EAW91650;NP_689631;Q8NA75 Hs.371738 5493637 UniSTS:490009 FLJ35775;MGC133227;WDR21C DDB1- and CUL4-associated factor 4-like protein 2;OTTHUMP00000224790;WD repeat domain 21C;WD repeat-containing protein 21C protein-coding ENSG00000176566 26657 08187 VALIDATED 1315207 DCAF5 DDB1 and CUL4 associated factor 5 14 14 14 q23-q24.1 49581760 49684074 - 68587395 68689502 - 69517637 69619914 - 6480464 16344560;14702039;12477932;11347906;9740667;9521877;21145461;20562859;20877624;16949367;16964240;20379614;16196087;21987572;21139048;21906983;21963094;19295130;22952844 8816 G3V3S1;G3V4J7;G3V4Z1;Q8TBB7;Q96JK2 AB058727;ABBA01023680;ABBA01023681;AF044774;AK054692;AL391262;AL831823;AL831932;AL834533;AMYH01005823;AMYH01005824;BC013239;BC022967;BC136632;BX648006;CH471061;DA058347;NM_003861;R41943 AAC08965;AAH22967;AAI36633;BAB47453;CAD38537;CAD38589;CAD39189;EAW80979;EAW80980;EAW80981;EAW80982;EAW80983;NP_003852;Q96JK2 Hs.509780 1339421;1649262;1678741;1682910;1718425;1731575;1856432;1857990;2116604;2123847;2123849;2145156;5125307 D10S2387;D14S1011;D14S244;D14S848;G35482;G36216;RH122414;RH79197;RH91357;RH99180;SHGC-36869;SHGC-37528;WI-14076 BCRG2;BCRP2;D14S1461E;DKFZp434A035;KIAA1824;WDR22 Breakpoint cluster region protein, uterine leiomyoma, 2;DDB1- and CUL4-associated factor 5;OTTHUMP00000246717;OTTHUMP00000246718;OTTHUMP00000246719;OTTHUMP00000246720;OTTHUMP00000246722;WD repeat domain 22;WD repeat-containing protein 22;breakpoint cluster region protein 2 protein-coding ENSG00000139990 20224 16032 603812 VALIDATED 1349472 DCAF8 DDB1 and CUL4 associated factor 8 This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] 1 1 1 q22-q23 133254265 133301114 - 158452129 158498603 - 160185505 160232350 - 737633;6480464 12477932 16949367;16344560;16189514;15342556;14702039;11401431;8125298;22500989;21145461;16964240;19060904;21424732;22863883;20360068;21987572;21139048;21890473;21906983;21963094;19295130;22190034;22797925 50717 B7Z8C9;G3V3G9;Q5TAQ5;Q5TAQ6;Q5TAQ7;Q5TAQ8;Q5TAQ9 ABBA01016613;AI352273;AK022091;AK026213;AK026481;AK093176;AK223475;AK303188;AK312690;AL139011;AMYH01001451;AMYH01001452;BC013107;BC080597;BC098245;BC098271;BC099709;BC099846;BC111063;BP359560;BU629460;CH471121;CR749801;DA622120;DC296401;NM_015726;NR_028103;NR_028104;NR_028105;NR_028106;U06631 AAA16607;AAH13107;AAH80597;AAH98271;AAH99709;AAH99846;AAI11064;BAD97195;BAH13915;CAH18661;EAW52730;EAW52731;EAW52732;NP_056541;Q5TAQ9 Hs.632447 1651568;1692492;1725383;1755823;1854198;2124971;2135963;2160893;5094884 AL033897;D1S2401;RH119009;RH69736;RH70540;SHGC-142667;WDR42A;WI-13746;WI-13987 DKFZp781G1096;FLJ35857;H326;MGC117276;MGC118891;MGC99640;WDR42A DDB1- and CUL4-associated factor 8;OTTHUMP00000029883;OTTHUMP00000029884;OTTHUMP00000029885;OTTHUMP00000246882;WD repeat domain 42A;WD repeat-containing protein 42A APPROVED protein-coding ENSG00000132716 24891 18300 REVIEWED 1342776 DCAF8L2 DDB1 and CUL4 associated factor 8-like 2 X X X p21.3 31893400 31895412 + 27662480 27677442 + 27764926 27766938 + 6480464 12477932;21139048 347442 J3QRI4;P0C7V8 ABBA01072668;ABBA01072669;AC107613;AMYH01022176;BC157859;NM_001136533 AAI57860;NP_001130005;P0C7V8 Hs.720885 1697192 RH102087 WDR42C DDB1- and CUL4-associated factor 8-like protein 2;WD repeat domain 42C;WD repeat-containing protein 42C protein-coding 31811 PROVISIONAL 1351849 DCDC1 doublecortin domain containing 1 This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010] 11 11 11 p13 31431602 31538744 - 31240747 31347897 - 31284171 31391357 - 1580863 12820024;16869982;20236041;19801982;16344560;21321669 341019 P59894 AA846321;AA954541;ABBA01060929;ABBA01060930;ABBA01060931;AL137804;AL162614;AMYH01003471;AMYH01003472;AMYH01003473;AMYH01003474;AY247970;BX097338;CH471064;DB090201;NM_181807 AAI60093;AAP75563;EAW68248;NP_861523;P59894 Hs.127405;Hs.592000 1336412;1339122;1664032;1670630;2184759;5494086;7186453 AU046597;D11S2001;D11S2369;D11S914;SHGC-32530;STS-AA017167 FLJ44078 OTTHUMP00000196427;OTTHUMP00000196428;doublecortin domain-containing protein 1 APPROVED protein-coding ENSG00000170959 20625 12158 608062 REVIEWED 1346250 DCBLD2 discoidin, CUB and LCCL domain containing 2 3 3 q12.1 99997504 100103223 - 98514814 98620533 - 632753;737633;6480464 11447234;12477932 18314483;17697260;17570516;15951569;15489334;14702039;11973641;10673047;17213806;19696027;20379614;21183991;22468095;21139048;21890473;21906983;22261696;19322201 131566 C9JIW6;Q96PD2 AB073146;ABBA01061811;ABBA01061812;ABBA01061813;ABBA01061814;AC026303;AC106728;AF104313;AF387547;AK001362;AK056350;AK302649;AMYH01013353;AMYH01013354;BC007117;BC016815;BC029658;BX647140;CH471052;D29810;NM_080927 AAH07117;AAH29658;AAL30178;ABM85923;BAA18909;BAB91138;BAH13769;EAW79845;EAW79846;EAW79847;NP_563615;Q96PD2 Hs.203691 1653662;1659405;1675519;1686194;1687409;1768959;1793538;1847449;2151608;2158708;2168143;5015881;5090953 D3S3963;GDB:335751;PMC229255P3;RH47632;RH66607;RH78772;RH80269;RH91597;RH98345;SHGC-36679;SHGC-37287;STS-D29024;STS-N69212 CLCP1;ESDN 1700055P21Rik;CUB, LCCL and coagulation factor V/VIII-homology domains protein 1;OTTHUMP00000200890;OTTHUMP00000200891;coagulation factor V/VIII-homology domains protein 1;discoidin, CUB and LCCL domain-containing protein 2;endothelial and smooth muscle cell-derived neuropilin-like protein protein-coding ENSG00000057019 24627 10567 608698 VALIDATED 1602678 DCAKD dephospho-CoA kinase domain containing 17 17 17 q21.31 39810010 39847596 - 40456238 40493912 - 43100706 43138473 - 6480464 12477932;20379614;20877624;16196087;19322201;21139048;21890473;21906983;22053931;22505724 79877 K7ESP4;Q8WVC6 ABBA01028331;ABBA01028332;ABBA01028333;ABBA01028334;ABBA01028335;AC015936;AC116493;AI497945;AK026608;AK290755;AMYH01008437;BC006472;BC006546;BC018132;BC033299;BX487139;CH471178;NM_001128631;NM_024819 AAH06472;AAH06546;AAH18132;AAH33299;ADZ15839;BAB15508;BAF83444;EAW51558;EAW51559;EAW51560;EAW51561;EAW51562;NP_001122103;NP_079095;Q8WVC6 Hs.463148 1767399;2133335;2141936;2144691;5114939 AFMa123xd1;D17S686;L29684;RH69257;STS-W87582 FLJ22955 dephospho-CoA kinase domain-containing protein protein-coding ENSG00000172992 26238 08012 VALIDATED 731288 DCC deleted in colorectal carcinoma This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009] 18 18 q21.3 48120569 49311780 + 49866542 51062273 + 734879;734878;1580863;2314372;2314373;2314374;6480464;6907045;7240710 8187090;8188295;17574219;16998900;16337279 16971669;8861902;12011067;9796814;19543899;19329758;19242752;19240061;19023099;18922894;18628988;18616430;18302152;18054557;17975119;17553164;17018594;16762451;16715837;16537496;16122883;15811950;15722793;15646429;15574733;15573119;15523694;15491747;14631365;14571268;12901294;12901278;12810718;12787729;12509857;12477932;12432238;12149262;12060632;11986622;11817894;11527412;11518545;11248093;11048721;10719364;9950216;9858595;9334332;8834768;8109990;8044801;7926722;7674088;7587124;2294591;1991322;15494733;12864730;15494732;20602751;20677014;15494734;16244667;18585357;19690890;19826074;20083228;20150623;20200978;20379614;20431009;20800603;21085126;21529783;19616629;20609112;21242494;22990118;20054719;21642953;20434207;19224863;22588384;22418395;22318345;15174051;23353777;22829558;23192594;23251661;23310950 1630 E7EQM8;H0Y2Q5;J3QKL2;J3QLB0;J3QLT8;J3QQJ6;J3QRL3;J3QRM6;J3QS93;P43146;Q49AK4 ABBA01018697;ABBA01018698;ABBA01018699;ABBA01018700;ABBA01018701;ABBA01018702;ABBA01018703;ABBA01018704;ABBA01018705;ABBA01018706;ABBA01018707;ABBA01018708;AC011155;AC016383;AC019239;AC021486;AC027248;AC078999;AC090660;AC100777;AC103949;AC110591;AC116002;AK302643;AK310385;AMYH01009004;AMYH01009005;AMYH01009006;AMYH01009007;AMYH01009008;AW949550;BC036524;CH471096;M32286;M32288;M32290;M32292;M63696;M63698;M63700;M63702;M63718;NG_013341;NM_005215;S73204;X76132 AAA35751;AAA52174;AAA52175;AAA52176;AAA52177;AAA52178;AAA52179;AAA52180;AAA52181;AAB31484;AAH36524;AAI52809;BAG63884;CAA53735;EAW62991;EAW62992;EAW62993;EAW62994;NP_005206;P43146 Hs.162025 1331553;1334999;1336976;1338167;1341443;1655089;1663787;1687552;1708750;1710056;1713015;1714433;1716313;1719031;1719849;1727903;1729722;1730537;1730753;1742707;1742709;1742711;1742713;1742715;1742717;1742719;1742721;1742723;1742725;1742727;1742729;1742731;1742733;1742735;1742737;1742739;1742741;1742743;1742745;1742747;1742749;1742751;1742753;1742755;1742757;1742759;1742761;1742763;1749789;1754503;1755081;1760461;1761363;1776131;1783668;1787552;2107013;2115038;2122966;2146645;2173662;5019897;7187412;7189149 AFM318xd5;D18S101;D18S1048;D18S1056;D18S1156;D18S1289;D18S484;D18S539;D18S8;D18S846;D18S851;D18S867;D18S90;DCC_7283;G19290;G54638;G63369;GDB:201888;GDB:201890;GDB:201891;GDB:201893;GDB:201894;GDB:201895;GDB:201896;GDB:201897;GDB:201898;GDB:201899;GDB:201900;GDB:201901;GDB:201902;GDB:201903;GDB:201904;GDB:201905;GDB:201906;GDB:201907;GDB:201909;GDB:201910;GDB:201912;GDB:201913;GDB:201914;GDB:201915;GDB:201916;GDB:201917;GDB:201918;GDB:201919;GDB:201920;RH120209;RH120598;RH121186;RH123222;RH123619;RH91830;SHGC-111533;SHGC-132778;SHGC-142014;SHGC-143101;SHGC-144200;SHGC-145384;SHGC-155675;SHGC-81593;SHGC-82304;WI-16306 CRC18;CRCR1;IGDCC1;MRMV1 OTTHUMP00000163551;colorectal cancer suppressor;colorectal tumor suppressor;deleted in colorectal cancer protein;immunoglobulin superfamily DCC subclass member 1;immunoglobulin superfamily, DCC subclass, member 1;netrin receptor DCC;tumor suppressor protein DCC APPROVED protein-coding 2701 00391 114500;120470;157600 REVIEWED 4144303 DCDC2C doublecortin domain containing 2C 2 2 p25.3 3728191 3796318 + 3751188 3895001 + 6480464 15815621;16869982;20236041;23251661;21490949 728597 A8MYV0;H7C242 ABBA01006098;ABBA01006099;ABBA01006100;AC010907;AC019172;AMYH01010074;AMYH01010075;DW010024;DY654549;XM_001127882;XM_003403748;XM_003960283 A8MYV0;XP_001127882;XP_003403796;XP_003960332 Hs.304233;Hs.631689 1678415;1706504 RH98402;SHGC-81147 OTTHUMP00000200096;doublecortin domain containing 2C;doublecortin domain containing 2C pseudogene;doublecortin domain-containing protein 2C;doublecortin domain-containing protein ENSP00000382097-like;putative doublecortin domain-containing protein ENSP00000382097 protein-coding 32696 MODEL 1352461 DCE desmosterol-to-cholesterol enzyme 1631 2702 1353460 DCBLD1 discoidin, CUB and LCCL domain containing 1 6 6 6 q22.1 118546716 118633918 + 117910513 117997714 + 117803820 117891021 + 6480464 15489334;14702039;14574404;12477932;20379614;22318606;22566634;21139048;21906983;17170699;23143601;23266556;23478653 285761 H0Y4G4;Q5H993;Q8N8Z6 ABBA01026038;ABBA01026039;AJ420528;AJ420597;AK055462;AK095973;AK098194;AL132671;AMYH01016620;BC035671;CH471051;CR749448;NM_173674;Z85999 AAH35671;BAC04663;BAC05258;CAH18285;EAW48206;EAW48207;NP_775945;Q8N8Z6 Hs.658304 1650085;1653442;1721401;1776219;1849051;1849053;2115875;2124467;2129782;2186357;5037552 A005S47;AL024477;D6S1073;D8S2279;G20471;G59552;HSC1FH112;RH46698;RH47666;RH78348;STS-D59313 DKFZp686L21135;MGC46341;dJ94G16.1 OTTHUMP00000017083;OTTHUMP00000017084;discoidin, CUB and LCCL domain-containing protein 1 protein-coding ENSG00000164465 21479 16784 PROVISIONAL 1604053 DCAF7 DDB1 and CUL4 associated factor 7 This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signalling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 17 17 17 q23.3 56015912 56059721 + 58981554 59025373 + 61627822 61671641 + 6480464 14593110;9192870;18391951;16887337;16344560;15489334;14743216;14702039;12477932;8889548;15778465;18247557;21145461;16712791;15324660;15761153;16949367;18029348;20940704;22990118;16759393;21832049;16196087;21777625;14676191;18775313;20360068;21139048;21890473;21906983;21987572;22118674;18729074;22053931;22505724;22645275 10238 B4E039;E9PCY4;P61962 AA206721;AA634196;ABBA01035328;ABBA01035329;ABBA01035330;AC113554;AI580937;AK022145;AK025925;AK026008;AK130672;AK294925;AK303212;AL832440;AMYH01008548;BC001264;BC024682;BC027489;BE889428;BF058090;BF507629;BG684075;BG819062;BM272287;BM559804;BM673647;BQ221019;BQ435051;BX648608;CB162675;CD245570;CH471109;DA230140;HY023965;NG_033092;NM_005828;NR_073585;U94747 AAC18913;AAH01264;ABM82159;ABM85343;BAG58007;BAG64301;EAW94305;EAW94306;NP_005819;P61962 Hs.410596 1651670;1654133;1665003;1693768;1713287;1734514;1772362;2129149;2131354;2132583;2165651;2173441;2174253;2175245;2180330;5014051;5024756;5037552;5115471 A002L25;Bdy96f01;D13S1454;D17S1455E;D8S2278;D8S2279;RH120635;RH12320;RH35855;RH48027;RH66412;RH80030;SHGC-2405;SHGC-33981;SHGC-34715;SHGC-58841;STS-M78988;WI-13939;WI-16977 AN11;HAN11;SWAN-1;WDR68 DDB1- and CUL4-associated factor 7;WD repeat domain 68;WD repeat-containing protein 68;WD repeat-containing protein An11 homolog;WD-repeat protein;human anthocyanin;seven-WD-repeat protein of the AN11 family-1 protein-coding ENSG00000136485 30915 09340 605973 REVIEWED 1349389 DCD dermcidin This gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. [provided by RefSeq, Jul 2008] 12 12 q13.1 53324642 53328416 - 55038375 55042149 - 1580863;6480464 17353931;17373842;9736629;19020323;18714373;18599487;18594538;18403914;18372903;18058718;17626247;17448443;16685272;16354654;16142329;15944307;15670776;15489334;15355918;15342556;15340161;12953101;12477932;12429208;11694882;10833321;9139670;8602222;21145461;21319273;22588119;20510021;20571754;19670153;19703016;19720844;19833888;20889853;17207965;19394292;20837461;20809104;16196087;21397687;19471022;21139048;15174051;21565611;21642987;21988832;23426625;18781797;22262861;21628590;17620599;19380743;22797925 117159 P81605 ABBA01008377;AC079310;AF144011;AF418981;AMYH01004489;AY044239;AY590150;BC062682;BC069108;BP313072;CH471054;EF503687;EF503688;EF503689;NM_053283 AAH62682;AAH69108;AAK94785;AAL18349;AAL25801;AAS99907;ABQ53649;ABQ53650;ABQ53651;ADQ32090;EAW96794;NP_444513;P81605 Hs.350570 AIDD;DCD-1;DSEP;HCAP;MGC71930;PIF OTTHUMP00000242495;OTTHUMP00000242497;dermcidin;diffusible survival/evasion peptide;preproteolysin;proteolysis inducing factor;survival promoting peptide APPROVED protein-coding ENSG00000161634 14669 07363 606634 REVIEWED 1349063 DCHS1 dachsous 1 (Drosophila) This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6761623 6801774 - 6599134 6633656 - 6642558 6677080 - 1580863;6480464 9199196;14702039;11597768;20379614;21875946;21139048 8642 Q96JQ0;Q9HAD6 AB000895;AB053446;ABBA01028670;AC091564;AK021852;AL831828;AMYH01003367;BC038382;CH471064;NM_003737 BAA21133;BAB13913;BAB61903;CAD38541;EAW68683;NP_003728;Q96JQ0 Hs.199850 1683695;1782298;1797952 PCDH16_1801;RH94204;SHGC-141500 CDH25;CDHR6;FIB1;FLJ11790;KIAA1773;PCDH16 OTTHUMP00000164585;cadherin-19;cadherin-25;cadherin-related family member 6;fibroblast cadherin 1;fibroblast cadherin FIB1;fibroblast cadherin-1;protein dachsous homolog 1;protocadherin 16;protocadherin-16 APPROVED protein-coding ENSG00000166341 13681 04341 603057 REVIEWED 1604739 DCDC2B doublecortin domain containing 2B This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010] 1 1 1 p35.1 30944597 30951699 + 32447282 32454384 + 32674695 32681797 + 12477932;16869982;20236041;8889548 149069 A2VCK2 ABBA01023436;ABBA01023437;AL049795;AMYH01000465;BC041458;BC128073;BM980133;NM_001099434 A2VCK2;AAI28074;NP_001092904 Hs.424588 1680539;2161383 RH98271;SHGC-74503 OTTHUMP00000202572;doublecortin domain-containing protein 2B APPROVED protein-coding ENSG00000222046 32576 REVIEWED 1321007 DCDC2 doublecortin domain containing 2 This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013] 6 6 p22.1 24279962 24466259 - 24171983 24383520 - 1580863;6480464 22837378;21881542;22490485;10601354;16278297;19362708;19238550;19096528;19018237;18810304;17450541;17033633;16385449;15489334;14574404;12477932;12168954;10574461;16869982;19302769;19616627;20068590;20236041;19588467;19944766;21130836;20691427;20846247;21046216;21042874;21104116;21203818;21507613;21698230;21832049;22683091;22733135;22750057;23229871;21457949;22558177 51473 H0Y784;Q9UHG0 AB032980;ABBA01066532;ABBA01066533;AF181720;AF181721;AI858903;AK027036;AL133043;AL359389;AL359713;AL591344;AMYH01016148;AMYH01016149;AMYH01016150;AMYH01016151;BC050704;BF109922;BM923267;NG_012829;NM_001195610;NM_016356 AAF23610;AAF23612;AAH50704;BAA86468;CAB61371;NP_001182539;NP_057440;Q9UHG0 Hs.61345 1336116;1657140;1723043;1752727;1788830;1792856;2113520;2120478;2180328;5014051;5021872;5022578;5022651;5037552;7185396;7188001 D1007L;D11S2921;D1S1423;D6S276;D8S2278;D8S2279;G60472;G67618;PMC166143P13;SHGC-106573;STS-AA004717;STS-AA026398;WI-11494;sY3084 DCDC2A;RU2;RU2S OTTHUMP00000017887;doublecortin domain-containing protein 2 APPROVED protein-coding ENSG00000146038 18141 09308 605755 REVIEWED 1603545 DCDC5 doublecortin domain containing 5 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found, but the full-length nature of some variants is not determined. [provided by RefSeq, Feb 2011] 11 11 11 p14.1 31032842 31101224 - 30808501 31105788 - 30885150 31014233 - 22797727;16869982;10819331;11181995;20236041;20379614;19801982;20700443;12477932;14702039;16554811;22159412;22504420 100506627 B6ZDN3;B7WNX6;H0Y2Q8;H7C298;M0R2J8;Q6ZRR9 AB040926;ABBA01060932;ABBA01060933;ABBA01060934;AL133349;AL133376;AL135932;AL137160;AMYH01003469;AMYH01003470;AW340116;BX116244;BX117620;BX647348;CH471064;CV569749;CV574283;DB528022;NM_020869 AAI56060;AAI56943;BAA96017;EAW68252;EAW68253;NP_065920;Q6ZRR9 Hs.530438;Hs.729691;Hs.730375 1646415;1693664;5015861;5015959;5037552;5037554;7185938 D10S16;D10S2448;D8S2279;D8S2282;SGC33110;SHGC-58593 DKFZp779D068;FLJ44078;FLJ46154;KIAA1493;MGC190499;MGC190811 OTTHUMP00000196430;doublecortin domain-containing protein 5 APPROVED protein-coding 24799 612321 VALIDATED 1348460 DCLK2 doublecortin-like kinase 2 This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010] 4 4 4 q31.3 148317796 148498175 + 151219530 151398059 + 150999426 151178609 + 737633;6480464 12477932 16344560;15611072;15489334;16869982;18075264;18618084;19342486;20236041;22589738 166614 G5E9L9;Q8N568 AB209181;ABBA01070083;ABBA01070084;ABBA01070085;ABBA01070086;ABBA01070087;AC093748;AC105343;AC108934;AC118064;AI419589;AL834498;AMYH01014609;AMYH01014610;AMYH01014611;BC019831;BC032726;CH471056;DA122884;DA201927;NM_001040260;NM_001040261;NR_036614 AAI72430;AAY40983;ABM81818;ABM84270;ABM87664;BAD92418;CAD39156;EAX05001;EAX05002;EAX05003;NP_001035350;NP_001035351;Q8N568 Hs.591683 1705978;1739319;1775981;2119622;2162116 D4S2763E;D4S921;RH47330;SHGC-79669;STS-N40200 CL2;CLICK-II;CLICK2;CLIK2;DCAMKL2;DCDC3;DCDC3B;DCK2;DKFZp761I032;MGC45428 OTTHUMP00000220237;OTTHUMP00000220238;OTTHUMP00000220239;OTTHUMP00000220240;caMK-like CREB regulatory kinase 2;doublecortin domain-containing protein 3B;doublecortin-like and CAM kinase-like 2;serine/threonine-protein kinase DCLK2 APPROVED protein-coding ENSG00000170390 19002 13122 613166 REVIEWED 1352758 DCLK3 doublecortin-like kinase 3 3 3 3 p22.2 36696656 36724088 - 36728917 36756356 - 36753913 36781352 - 1580863;6480464 16869982;16344560;14702039;11214970;16684769;17914117;20236041;11181995;20379614 85443 B3KVM3;Q9C098 AB051552;ABBA01024869;AC105749;AK122988;AMYH01013083;CH471055;DB075681;DR000236;NM_033403 BAB21856;BAG53835;EAW64476;NP_208382;Q9C098 Hs.631907 2157815;2171848;2182507;2185625 A008Q15;DXYS5Y;SHGC-32285;STS-F04958 CLR;DCAMKL3;DCDC3C;DCK3;KIAA1765 CLICK-I,II-related;OTTHUMP00000208673;doublecortin domain-containing protein 3C;doublecortin-like and CAM kinase-like 3;serine/threonine-protein kinase DCLK3 protein-coding ENSG00000163673 19005 613167 VALIDATED 7204445 DCLRE1CP1 DNA cross-link repair 1C pseudogene 1 10 p13 15057357 15077424 - 100289151 B7Z2W2 ABBA01034601;AL157391;AMYH01002055;XM_002342972;XM_003119462;XM_003960465 XP_002343013;XP_003119510;XP_003960514 Hs.723069 DNA cross-link repair 1C pseudogene 1 protein-coding 44877 MODEL 1603301 DCHS2 dachsous 2 (Drosophila) 4 4 4 q31.3 152487107 152744394 - 155375138 155531899 - 155155527 155412930 - 21145461;16344560;15003449;14702039;12477932;8125298;21757653;22005931;22610502;23251661;22960237 54798 B2RU14;E9PG03;Q6V1P8;Q6V1P9 ABBA01070154;ABBA01070155;ABBA01070156;AC079298;AC110608;AC110775;AF169691;AK000054;AK095103;AK127704;AK225200;AMYH01014633;AY354497;AY354498;BC140919;BX647835;CH471056;DA240588;DB288709;NM_001142552;NM_001142553;NM_017639 AAF89688;AAI40920;AAR10443;AAR10444;AAY41019;BAA90911;BAC87093;BAG52985;EAX04942;EAX04943;EAX04944;EAX04945;EAX04946;EAX04947;NP_001136024;NP_001136025;NP_060109;Q6V1P9 Hs.655664 1655294;1655296;1665919;1716087;1763611;1770465;1770894;1770896;2119690;2123055;2130435;2146659;2166202;2169793;2172540;2173676;2219776 A005N30;CDHJ_4540;D4S1046;D4S1303;D4S2555E;D4S904;D4S991;G20355;G34254;G41953;G41955;G41974;RH121008;SHGC-14453;SHGC-147301;SHGC-50784;SHGC-59326 CDH27;CDHJ;CDHR7;FLJ20047;PCDH23;PCDHJ OTTHUMP00000220364;OTTHUMP00000220365;OTTHUMP00000220366;cadherin-27;cadherin-like 27;cadherin-like protein CDHJ;cadherin-like protein VR8;cadherin-related family member 7;dachsous-like;protein dachsous homolog 2;protocadherin 23;protocadherin PCDHJ;protocadherin protein CDHJ;protocadherin protein PCDHJ;protocadherin-23 protein-coding ENSG00000197410 23111 10858 612486 VALIDATED 1344747 DCK deoxycytidine kinase Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008] 4 4 q13.3-q21.1 72078256 72115477 + 71859265 71896631 + 1580863;6480464;6907045 1996353;2542307;19428333;19287976;19159229;18974616;18775979;18600545;18600530;18361501;18258203;17855478;17602053;17065091;17065085;17065080;17065079;17065053;16969512;16799820;16401075;16361699;15978330;15571259;15571258;15571257;15571255;15564883;15561147;15028279;14514691;12628850;12535661;12477932;11952160;11830489;11687801;9804782;9342341;8421671;8406512;7718326;7494863;6317685;6315069;2013338;12808445;16169070;20544527;20544528;20608756;20614893;20665488;19568409;20028759;20043109;20890066;21030078;20637175;21245102;18931345;21225236;21351740;21832002;22863883;21988832;23000965;23230131;21336182;20137114;21858090;21900206;21139048;21906983;22884143;22490663;19322201;22505724;23035362;22705007 1633 D6R9C6;D6RCP9;D6RFG8;D6RG38;F5CTF3;P27707 ABBA01022955;ABBA01022956;ABBA01022957;ABBA01022958;AC093851;AK303292;AK313523;AMYH01014283;BC103764;BC114617;BI601939;BT019941;BT019942;CD014016;CH471057;CR536527;CR541876;JA361664;JA455051;JF806429;L07485;M60527;NG_023303;NM_000788 AAA35752;AAI03765;AAI14618;AAV38744;AAV38745;AED02503;BAG36303;BAG64367;CAG38764;CAG46674;CCA94561;CCD32997;EAX05637;NP_000779;P27707 Hs.709 2158335;2174752;5117104 D4S834;GDB:437189;SHGC-59555 MGC117410;MGC138632 OTTHUMP00000160356;OTTHUMP00000219118;OTTHUMP00000219119;deoxycytidine kinase;deoxynucleoside kinase APPROVED protein-coding ENSG00000156136 2704 00507 125450 REVIEWED 68655 DCLK1 doublecortin-like kinase 1 This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010] 13 13 q13 35243478 35603443 - 36342789 36705514 - 1580863;6480464 14613930;10036192;10051403;9747029;17903306;15345747;15203218;12692530;12595708;12477932;11884394;11124993;9205841;9110174;8619474;21285251;11473121;14741399;17313568;17975023;18052980;20236041;8515813;8889548;20548946;20228126;16869982;16548883;19844571;20379614;22749579;23535911;21832049;21493956;21937640;21998595;22539971;22560479;22747683;21916995;17110338;23251661;23202126 9201 B7Z5K4;O15075;Q5VZY9 AB002367;ABBA01010171;ABBA01010172;ABBA01010173;ABBA01021363;AF052152;AF070534;AK295102;AK295777;AK299059;AK299829;AK308925;AK311183;AK311195;AK311434;AK311438;AK311459;AL139083;AL157694;AL157760;AL160392;AL390029;AMYH01005036;AMYH01005037;BC152456;BE672499;BI824620;BM682165;BQ711413;CD619255;CH471075;CR627093;HI584573;NM_001195415;NM_001195416;NM_001195430;NM_004734 AAI52457;AAI60043;BAA20824;BAH11973;BAH12185;BAH12940;BAH13141;CBX55086;EAX08550;EAX08551;NP_001182344;NP_001182345;NP_001182359;NP_004725;O15075 Hs.507755;Hs.728619 1645813;1672740;1706864;1714635;1717131;1720101;1750809;1751221;1789066;1852996;1854890;2111758;2116454;2121189;2121994;2128446;2138975;2146867;2151078;2162557;2165153;2169581;2170282;2183610;2184373;2218462 A008Z44;AFMB316WB5;D13S1159;D13S1164;D13S1174;D13S1646;D13S240;D13S849E;DCAMKL1_4674;G17692;G65669;RH11210;RH119982;RH121485;RH123792;RH44747;RH44822;RH46169;RH78794;SHGC-103675;SHGC-105091;SHGC-56401;SHGC-80915;STS-Z40654;WI-14261;WI-21179 CL1;CLICK1;DCAMKL1;DCDC3A;DCLK;KIAA0369 OTTHUMP00000018250;OTTHUMP00000018251;OTTHUMP00000018252;double cortin and calcium/calmodulin-dependent protein kinase-like 1;doublecortin and CaM kinase-like 1;doublecortin domain-containing protein 3A;doublecortin-like and CAM kinase-like 1;serine/threonine-protein kinase DCLK1 APPROVED protein-coding 2700 09202 604742 REVIEWED 1314610 DCLRE1A DNA cross-link repair 1A This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 10 10 q25.1 115584474 115603597 - 115594484 115613859 - 6480464 18848520;18180189;18006388;17804464;15572677;15542852;15489334;15164054;12509242;12477932;12446782;10848582;9806498;7788527;16385451;20385554;18029348;21896658;22318606;21139048;22692201;16344560;20528238 9937 Q09LL8;Q6PJP8 ABBA01062988;AK307187;AL592546;AMYH01003082;AY607842;BC013124;BC062582;CH471066;D42045;DA456679;DB224073;H98725;NM_001271816;NM_014881 AAH13124;AAH62582;AAT09762;BAA07646;EAW49489;EAW49490;NP_001258745;NP_055696;Q6PJP8 Hs.1560;Hs.703616 1669236;2142400;5090934;5491956 D10S2349;D10S592;DCLRE1A;RH25314 KIAA0086;PSO2;SNM1;SNM1A DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae);DNA cross-link repair 1A protein;DNA-crosslink repair gene SNM1;OTTHUMP00000020516;OTTHUMP00000020517;PSO2 homolog;SNM1 homolog A;hSNM1A APPROVED protein-coding ENSG00000198924 17660 08519 609682 REVIEWED 1321192 DCLRE1B DNA cross-link repair 1B DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008] 1 1 p13.2 114249561 114258217 + 114447915 114456708 + 1580863;6480464 19197158;18593705;18469862;18468965;16730176;16730175;16710414;16606622;15572677;15489334;15467758;14702039;12477932;10848582;20655466;19411856;21217703;22907656;21478198;21906983;22318606;22692201;23128233;23189151 64858 Q9H816 ABBA01068458;AF306690;AF306691;AF306692;AF306693;AI669133;AK022872;AK024060;AL137856;AMYH01000964;AY849379;BC011950;BC029687;CH471122;CR936679;DR005221;NM_022836 AAH29687;AAV97812;ADZ15683;BAB14284;BAB14807;EAW56582;EAW56583;NP_073747;Q9H816 Hs.591412 APOLLO;DKFZp686C24187;FLJ12810;FLJ13998;SNM1B;SNMIB 5' exonuclease Apollo;DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae);DNA cross-link repair 1B protein;OTTHUMP00000013722;PSO2 homolog;SNM1 homolog B APPROVED protein-coding ENSG00000118655 17641 16785 609683 VALIDATED 1348428 DCLRE1C DNA cross-link repair 1C This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA). [provided by RefSeq, Jul 2008] 10 10 p13 14988876 15036100 - 14948870 14996094 - 1580863;1601049;6480464;6907045;7240710 11336668 18270339;22134138;23044421;19398950;19075392;19075292;19074885;19022407;18034425;17932067;17242184;17169382;17121861;16874298;16857680;16600297;16093244;15936993;15811628;15731174;15723659;15574327;15574326;15489334;15468306;15456891;15164054;15071507;14744996;14726805;14702039;14628082;12921762;12592555;12569164;12477932;12406895;12177301;12055248;11955432;11181991;9443881;7566098;20610542;19423708;19692705;19779458;19859091;19953608;20003485;20496165;20522537;22529269;22527898;20975951;21531702;22730303;21596788;21785230;21390052;21641068;23219551;23465063 64421 B3KMX5;B3KSJ7;Q5JSS0 ABBA01034603;ABBA01034604;AF088055;AF395747;AF395748;AF395749;AF395750;AF395751;AF395752;AJ296101;AK021422;AK022922;AK093757;AK290598;AK307912;AL360083;AMYH01002054;AW954867;BC000863;BC009185;BC022254;BC108276;BE799340;BX648858;CH471072;DQ504427;NG_007276;NM_001033855;NM_001033857;NM_001033858;NM_022487 AAH00863;AAH09185;AAH22254;AAM53255;AAM53256;AAM53257;AAM53258;AAM53259;AAM53260;ABF47101;BAB13820;BAF83287;BAG51137;BAG52759;CAC37570;EAW86248;EAW86249;EAW86250;EAW86251;EAW86252;NP_001029027;NP_001029029;NP_001029030;NP_071932;Q96SD1 Hs.656065 1670557;2125965;2145366;2171378;2219070;5015881 A007G45;DCLRE1C__4679;GDB:335751;RH66273;STS-R68462;WI-15434 A-SCID;DCLREC1C;FLJ11360;FLJ36438;RS-SCID;SCIDA;SNM1C;hSNM1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae);DNA cross-link repair 1C protein;OTTHUMP00000019166;OTTHUMP00000019167;OTTHUMP00000019168;OTTHUMP00000019169;OTTHUMP00000019170;OTTHUMP00000019171;OTTHUMP00000019172;OTTHUMP00000019173;OTTHUMP00000019174;PSO2 homolog;SNM1 homolog C;SNM1-like protein;protein artemis;severe combined immunodeficiency, type a (Athabascan) APPROVED protein-coding ENSG00000152457 17642 05817 602450;603554;605988 REVIEWED 1350850 DCR Down syndrome chromosome region 7240710 1829580 1637 2708 190685 1346102 DCN decorin The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to biglycan protein. The encoded protein and biglycan are thought to be the result of a gene duplication. This protein is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly. It contains one attached glycosaminoglycan chain. This protein is capable of suppressing the growth of various tumor cell lines. There are multiple alternatively spliced transcript variants known for this gene. This gene is a candidate gene for Marfan syndrome. [provided by RefSeq, Jul 2008] 12 12 q21.33 90063166 90100937 - 91539035 91576806 - 1580863;2298922;2311424;2311425;1598727;2311418;2311417;2311410;2311411;2311412;2311413;2311414;2311415;2311416;1600551;2311423;1598497;6480464;6907045;7240710 12809600;16005714;15475879;14654066;18688028;19393425;18414424;17884968;16868749;16630654;15713786;12187087;11259366;17244723;16387756;16311904 16583246;16467781;16434404;16258169;15994311;15949467;15923192;15811857;15785240;15671264;15652541;15489334;15336555;15291816;15209389;15147741;15147736;15016829;15016081;14660661;14633702;12853035;12730206;12601001;12482864;12477932;12387878;12372409;12176891;12106908;12105206;12071714;11979972;11879191;11723132;11598131;11185075;10793130;10747008;10382266;9988678;9895299;9675033;9435313;9328841;9252349;9148753;8889548;8440685;8432527;8432526;7798269;7638106;3597437;3484330;3194009;2647739;2590169;2375748;2374594;2211661;2059554;1968422;1611907;1550960;1468447;16835231;7961765;18029348;19212830;19036156;18830193;18638554;18620607;18514055;18505923;18436739;18413650;18413316;18373940;17952560;17651433;17558846;17516017;17396208;17335953;17286067;17146610;17097211;17067743;17046817;16989735;16938379;16935612;16902402;16844696;22479366;1431141;8093006;1544908;20357198;21658281;18621549;19433454;19453261;19589127;19590249;19590686;19616852;19678923;19684189;19737460;19834535;19864245;20026052;20360993;19913121;20591329;20628086;20628624;20546727;20484579;20398359;20707770;20644730;20301741;21205989;20974860;22870031;23106098;22990118;22888166;21360479;21702857;21723264;21993463;21840990;22104218;21185747;22159220;21791066;21958730;21791437;21809347;22363530;22992875;22880013;23193185;22329809;22490077;22512703;23007289;23431957;22678721;23029096 1634 F8VNV6;F8VNW0;F8VSI3;F8VU58;F8VUF6;F8VWU0;F8VX58;F8VXZ8;H0YI87;H0YIH3;P07585;Q6FH10 ABBA01053408;ABBA01053409;AC007115;AF138300;AF138301;AF138302;AF138303;AF138304;AF491944;AK291309;AL355731;AMYH01004652;BC005322;BG536640;BG538290;BM672011;BT019800;BX571756;CD689331;CH471054;CR407676;CR541946;L01131;NG_011672;NM_001920;NM_133503;NM_133504;NM_133505;NM_133506;NM_133507 AAA52301;AAD44713;AAD44714;AAD44715;AAF61437;AAF61438;AAH05322;AAL92176;AAV38603;ABM83482;ABM86695;BAF83998;CAE11881;CAG28604;CAG46744;EAW97450;EAW97451;EAW97452;EAW97453;EAW97454;EAW97455;EAW97456;EAW97457;EAW97458;EAW97459;EAW97460;NP_001911;NP_598010;NP_598011;NP_598012;NP_598013;NP_598014;P07585 Hs.156316 1665795;1699968;1742599;1744043;1777695;1852025;2150305;2176629;2186608;5491447 GDB:197931;GDB:384910;MARC_12473-12474:997213223:1;RH103594;RH41859;RH68984;SHGC-17552;SHGC-53083;WI-17110;WI-20146 CSCD;DSPG2;PG40;PGII;PGS2;SLRR1B OTTHUMP00000242890;OTTHUMP00000242892;OTTHUMP00000242893;OTTHUMP00000242894;OTTHUMP00000242895;OTTHUMP00000246199;OTTHUMP00000246200;PG-S2;bone proteoglycan II;decorin;decorin proteoglycan;dermatan sulphate proteoglycans II;proteoglycan core protein;small leucine-rich protein 1B APPROVED protein-coding ENSG00000011465 2705 00501 125255;610048 REVIEWED 1350050 DCP1A DCP1 decapping enzyme homolog A (S. cerevisiae) Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 53284637 53348841 - 53292489 53356677 - 53317443 53381654 - 1580863;6480464 19150429;18513389;17081983;16364915;15489334;15302935;15231747;14702039;12927788;12515382;12477932;12417715;12023040;11836524;15937477;12766061;15146197;15231748;15324660;16344560;18029348;19615732;19812249;19910486;22990118;21859862;15604093;21139048;21948796 55802 Q3LIB4;Q9NPI6 AB075507;ABBA01024475;ABBA01024476;ABBA01024477;ABBA01024478;AC097015;AC112218;AJ275986;AK001969;AK025344;AK094470;AK295205;AMYH01013191;AY146651;BC007439;BC016729;BM016520;BX481349;CA407150;CD676826;CH471055;CN289842;DA568874;DA786683;DC371232;NM_018403 AAH07439;AAN62763;ABM84186;ABM87588;BAA92008;BAE45754;BAG58201;CAB77023;EAW65283;EAW65284;NP_060873;Q9NPI6 Hs.476353 1652400;1661061;1685508;1687165;1780060;1852780;2179885;5024761;5037552 D8S2279;RH36905;RH69821;RH78393;RH91253;SGC34070;SHGC-154309;STS-N91450;STS-R01176 FLJ21691;HSA275986;Nbla00360;SMAD4IP1;SMIF OTTHUMP00000212673;OTTHUMP00000212674;OTTHUMP00000212675;Smad4-interacting transcriptional co-activator;decapping enzyme hDcp1a;mRNA-decapping enzyme 1A;putative protein product of Nbla00360;transcription factor SMIF APPROVED protein-coding 18714 06113 607010 REVIEWED 1349747 DCP2 decapping mRNA 2 The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5' end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] 5 5 q22.2 112340332 112384566 + 112312407 112357892 + 1580863;6480464 9490301;12417715;15231747;16364915;18361920;18039849;17081983;16756390;16699599;15937477;15489334;15273322;15067023;14702039;14527413;12923261;12768200;12515382;12486012;12477932;12218187;16344560;18172165;22678362;23085078;23115303;17207965;21070968;20360068;21672539;21139048;19322201;22851315 167227 B7Z3U5;D6RCL0;H0Y9T5;Q8IU60 AA837315;AB002445;ABBA01069048;ABBA01069049;AC008536;AK025019;AK090564;AK296361;AK311298;AL135390;AMYH01015549;AY135173;AY146650;BC017965;BC045596;BC064593;BC068042;BG720562;BX537716;BX648838;CF994730;CH471086;DB146225;NG_029929;NM_001242377;NM_152624;NR_038352 AAH45596;AAH64593;AAN08884;AAN62762;ADQ32568;BAC03479;BAH12331;EAW48988;EAW48989;EAW48990;EAW48991;EAW48992;NP_001229306;NP_689837;Q8IU60 Hs.443875 1644836;1679445;1712162;2118478;2181105;5022576;5022578;5093872 A004W46;A009Y12;D1S1361;D1S1423;G32974;G54131;RH78455;RH93998 FLJ33245;NUDT20 DCP2 decapping enzyme homolog;OTTHUMP00000222834;OTTHUMP00000222835;OTTHUMP00000222836;hDpc;m7GpppN-mRNA hydrolase;mRNA-decapping enzyme 2;nucleoside diphosphate-linked moiety X motif 20;nudix (nucleoside diphosphate linked moiety X)-type motif 20;nudix motif 20 APPROVED protein-coding ENSG00000172795 24452 13125 609844 REVIEWED 1348381 DCP1B decapping mRNA 1B DCP1B is a core component of the mRNA decapping complex, a key factor in the regulation of mRNA decay (Lykke-Andersen, 2002 [PubMed 12417715]).[supplied by OMIM, Mar 2008] 12 12 12 p13.33 3662917 3721370 - 1925475 1983938 - 2055214 2113677 - 1580863;6480464 15231747;16964243;15592455;15489334;15067023;14702039;12477932;12417715;15231748;19615732;16364915;18029348;21139048;21906983;21672539;22142827;23000965;23251661;23453885;21948796;22505724 196513 B4DRD1;B4DVJ6;F5GZK9;F5H3J1;F5H4R4;Q8IZD4 ABBA01048813;AC005342;AK056200;AK299203;AK301109;AK310475;AMYH01004176;AW204088;AY146652;BC015368;BC043437;CH471116;NM_152640 AAH15368;AAH43437;AAN62764;BAB71118;BAG61243;BAG62708;EAW88915;EAW88916;NP_689853;Q8IZD4 Hs.130934 1693862;1693948;1745915;2146671 G42620;G42668;G64296;RH66111 DCP1;hDcp1b DCP1 decapping enzyme homolog B;OTTHUMP00000237966;decapping enzyme hDcp1b;mRNA-decapping enzyme 1B APPROVED protein-coding ENSG00000151065 24451 609843 VALIDATED 1602181 DCST1 DC-STAMP domain containing 1 This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 1 1 1 q22 128077323 128094429 + 153272924 153290030 + 155006282 155023406 + 6480464 14702039;12477932;21145461;11169400 149095 B4DXB8;B4DXE3;E9PJX3;Q5T197 ABBA01016720;AF314227;AK057347;AK301876;AK301902;AK301935;AL451085;AMYH01001423;BC064844;CH471121;NG_027536;NM_001143687;NM_152494 AAH64844;AAS46286;BAB71440;BAG63312;BAG63330;BAG63355;EAW53143;NP_001137159;NP_689707;Q5T197 Hs.567717 2143068 RH78401 FLJ32785;RP11-307C12.10 DC-STAMP domain-containing protein 1;OTTHUMP00000038746;OTTHUMP00000038747;OTTHUMP00000231879;OTTHUMP00000231880 APPROVED protein-coding ENSG00000163357 26539 08733 REVIEWED 1344529 DCPS decapping enzyme, scavenger 11 11 q24.2 125678857 125720854 + 126173647 126215644 + 727225;1580863;6480464 12198172 16140270;18725266;18441014;18426921;15769464;15489334;15273322;15068804;14702039;14523240;12871939;12477932;11747811;11042152;8125298;17207965;17549794;22863883;18029348;21139048;21890473;21906983;21963094;15161933;18839960;21988832;23000965;22053931;22505724;15383679 28960 Q53G42;Q96C86 ABBA01031221;AF077201;AF532613;AK026554;AK090828;AK223089;AK307403;AMYH01004111;AMYH01004112;AP001318;AY040771;AY077684;BC014532;CH471065;NM_014026 AAD26996;AAH14532;AAK91765;AAL77216;AAM90310;ADQ31697;BAD96809;EAW67691;NP_054745;Q96C86 Hs.504249 1652044;1855354;2131480;2131482;2135814;2165177 A005D35;A005N41;A008S31;G20363;HSC1IE112;SHGC-34118 DCS1;HINT-5;HINT5;HSL1;HSPC015 DCS-1;OTTHUMP00000231113;decapping scavenger enzyme;heat shock-like protein 1;hint-related 7meGMP-directed hydrolase;histidine triad nucleotide-binding protein 5;histidine triad protein member 5;homolog of C. elegans 7meGMP-directed hydrolase dcs-1;m7GpppX diphosphatase;mRNA decapping enzyme;scavenger mRNA-decapping enzyme DcpS protein-coding ENSG00000110063 29812 16787 610534 VALIDATED 1606730 DCST2 DC-STAMP domain containing 2 1 1 1 q22 128062026 128077280 - 153257627 153272881 - 154991003 155006257 - 6480464 18952287;16710414;16344560;15489334;14702039;12477932 127579 H0YF62;Q5T1A1 AA401747;ABBA01016720;AK057496;AK097468;AK097993;AL451085;AMYH01001423;BC111794;CH471121;DB025590;NM_144622 AAI11795;AAI66652;BAB71511;BAC05065;BAC05211;EAW53146;EAW53147;EAW53148;NP_653223;Q5T1A1 Hs.591491 FLJ32934;RP11-307C12.4 DC-STAMP domain-containing protein 2;OTTHUMP00000035490;OTTHUMP00000035491;OTTHUMP00000035492 protein-coding ENSG00000163354 26562 08739 VALIDATED 1321334 DCSTAMP dendrocyte expressed seven transmembrane protein This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 8 8 8 q23 101538720 101555582 + 105421230 105438092 + 105352024 105368917 + 1580863;6480464 11169400;19259350;15601667;15489334;14702039;12477932;11345591;11345586;21623375;20546900;20797317;20839008;21987375;16344560;22058328 81501 Q9H295 ABBA01037648;AF277290;AF305068;AK095417;AMYH01018944;AP003471;BC069349;BC112018;BC112020;BC171732;CH471060;DA154308;NM_001257317;NM_030788 AAG39167;AAH69349;AAI12019;AAI12021;AAI71732;AAL02152;BAG53050;EAW91892;NP_001244246;NP_110415;Q9H295 Hs.652230;Hs.741954 2110359 DCSTAMP__4680 FIND;MGC138223;MGC138225;MGC177336;TM7SF4;hDC-STAMP DC-specific transmembrane protein;Dendritic cells (DC)-specific transmembrane protein;IL-4-induced protein;IL-Four (IL-4) induced;IL-Four INDuced;IL-four-induced protein;OTTHUMP00000227835;dendritic cell-specific transmembrane protein;dendrocyte-expressed seven transmembrane protein;transmembrane 7 superfamily member 4 APPROVED protein-coding ENSG00000164935 18549 07295 605933 REVIEWED 6770566 DCTN1-AS1 DCTN1 antisense RNA 1 2 p13 74612845 74621008 + 12477932 100189589 ABBA01075600;AC005041;AMYH01010454;BC042946;NR_024463 Hs.585961 APPROVED miscrna ENSG00000237737 44151 VALIDATED 1342702 DCT dopachrome tautomerase 13 13 q32 93889836 93929924 - 95091835 95131936 - 1580863;6480464;6907045 8206391;19284502;18674612;18312627;18206123;17766092;17200659;17081065;16857183;15856458;15489334;15342556;15057823;12843792;12643545;12559959;12477932;11851878;11777994;11549113;10886507;10079069;9743519;9540976;9480844;9356298;9176405;8976176;8950502;8898931;8530077;8306979;8267597;8148378;8126111;8088811;8040609;7929451;7858411;7855064;1537334;18337837;19855129;20221248;20356546;20520707;22988252;22898827 1638 H0YCA9;P40126 ABBA01027211;AJ000503;AJ132932;AK293115;AL139318;AMYH01005300;BC028311;BP221841;CH471085;D17547;D28767;DQ821585;DQ821586;DQ821587;DQ821588;DQ821589;DQ821590;DQ821591;DQ821592;DQ821593;DQ821594;DQ821595;DQ821596;DQ821597;DQ821598;DQ821599;DQ821600;DQ821601;DQ821602;DQ821603;DQ821604;DQ821605;DQ821606;DQ821607;DQ821608;DQ821609;DQ821610;DQ821611;DQ821612;DQ821613;DQ821614;DQ821615;DQ821616;DQ821617;DQ821618;DQ821619;DQ821620;DQ821621;DQ821622;DQ821623;DQ821624;DQ821625;DQ821626;DQ821627;DQ821628;DQ821629;DQ821630;DQ821631;DQ821632;DQ821633;DQ821634;DQ821635;DQ821636;DQ821637;DQ821638;DQ821639;DQ821640;DQ821641;DQ821642;DQ821643;DQ821644;DQ821645;DQ821646;DQ821647;DQ821648;DQ821649;DQ821650;DQ821651;DQ821652;DQ821653;DQ821654;DQ821655;DQ821656;DQ821657;DQ821658;DQ821659;DQ821660;DQ821661;DQ821662;DQ821663;DQ821664;DQ821665;DQ821666;DQ821667;DQ821668;DQ821669;DQ821670;DQ821671;DQ821672;DQ821673;DQ821674;DQ821675;DQ821676;DQ821677;DQ821678;DQ821679;DQ821680;DQ821681;DQ821682;DQ821683;DQ821684;DQ821685;DQ821686;DQ821687;DQ821688;DQ821689;DQ821690;DQ821691;DQ821692;DQ821693;DQ821694;DQ821695;DQ821696;DQ821697;DQ821698;DQ821699;DQ821700;DQ902581;L18967;L38953;NM_001129889;NM_001922;S69231 AAA20870;AAC41925;AAC60627;AAH28311;ABG82045;ABG82046;ABG82047;ABG82048;ABG82049;ABG82050;ABG82051;ABG82052;ABG82053;ABG82054;ABG82055;ABG82056;ABG82057;ABG82058;ABG82059;ABG82060;ABG82061;ABG82062;ABG82063;ABG82064;ABG82065;ABG82066;ABG82067;ABG82068;ABG82069;ABG82070;ABG82071;ABG82072;ABG82073;ABG82074;ABG82075;ABG82076;ABG82077;ABG82078;ABG82079;ABG82080;ABG82081;ABG82082;ABG82083;ABG82084;ABG82085;ABG82086;ABG82087;ABG82088;ABG82089;ABG82090;ABG82091;ABG82092;ABG82093;ABG82094;ABG82095;ABG82096;ABG82097;ABG82098;ABG82099;ABG82100;ABG82101;ABG82102;ABG82103;ABG82104;ABG82105;ABG82106;ABG82107;ABG82108;ABG82109;ABG82110;ABG82111;ABG82112;ABG82113;ABG82114;ABG82115;ABG82116;ABG82117;ABG82118;ABG82119;ABG82120;ABG82121;ABG82122;ABG82123;ABG82124;ABG82125;ABG82126;ABG82127;ABG82128;ABG82129;ABG82130;ABG82131;ABG82132;ABG82133;ABG82134;ABG82135;ABG82136;ABG82137;ABG82138;ABG82139;ABG82140;ABG82141;ABG82142;ABG82143;ABG82144;ABG82145;ABG82146;ABG82147;ABG82148;ABG82149;ABG82150;ABG82151;ABG82152;ABG82153;ABG82154;ABG82155;ABG82156;ABG82157;ABG82158;ABG82159;ABG82160;ABI73976;ABM82392;ABM85575;BAA04484;BAA05956;BAF85804;CAA04137;CAB93530;EAX08937;EAX08938;EAX08939;NP_001123361;NP_001913;P40126 Hs.301865 1648832;1666413;1683661;1686778;1791374;1847162;2219072 D13S1166;DCT__4681;PMC108780P1;RH39628;RH80082;SHGC-36410;SHGC-54546 TRP-2;TYRP2 DT;L-dopachrome Delta-isomerase;L-dopachrome tautomerase;OTTHUMP00000018553;TRP2;dopachrome delta-isomerase;dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2);tyrosinase-related protein 2;tyrosine-related protein 2 APPROVED protein-coding ENSG00000080166 2709 01864 191275 VALIDATED 1349899 DCTD dCMP deaminase The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q35.1 181145398 181172940 - 184048238 184075624 - 183811244 183838630 - 1580863;6480464;6907045 7685356;17602053;15592455;15489334;12477932;8448179;7642519;3627112;16189514;20665488;20028759;21139048;19322201;21988832;23251661 1635 D6R9P0;D6R9S0;D6RAD7;D6RAR9;D6RBJ9;D6RBN2;D6RC36;D6RD72;D6RIG3;D6RJA9;P32321 ABBA01070495;ABBA01070496;AC079766;AK293135;AK310788;AK313221;AMYH01014759;BC001286;BC088357;BI544680;BQ228061;BU188090;CH471056;L12136;L39874;NM_001012732;NM_001921 AAA35755;AAC37579;AAH01286;AAH88357;BAG36033;BAG56683;EAX04697;EAX04698;EAX04699;EAX04700;EAX04701;NP_001012750;NP_001912;P32321 Hs.183850 1784944;2127393;2160402 SHGC-106469;SHGC-12416;SHGC-59529 MGC111062 OTTHUMP00000218732;OTTHUMP00000218733;OTTHUMP00000218780;OTTHUMP00000218783;OTTHUMP00000218789;deoxycytidylate deaminase APPROVED protein-coding ENSG00000129187 2710 09623 607638 REVIEWED 1601967 DCTPP1 dCTP pyrophosphatase 1 16 16 16 p11.2 29857548 29863885 + 30342520 30348874 - 30435019 30441373 - 6480464 21145461;16169070;18029348;16189514;15740738;12477932;19596235;21832049;22863883;22939629;21890473;21906983 79077 H3BPN2;H3BSA6;Q9H773 ABBA01042026;AC116348;AF210430;AF212242;AK024843;AMYH01007497;AY453409;BC001344;CH471192;CR457335;NM_024096 AAH01344;AAK14927;AAK48422;AAR26724;BAB15025;CAG33616;EAW52247;NP_077001;Q9H773 Hs.632191 1686915;1737585 D16S2672;SHGC-61066 CDA03;MGC5627;RS21C6;XTP3TPA OTTHUMP00000163253;XTP3-transactivated gene A protein;XTP3-transactivated protein A;dCTP pyrophosphatase 1;dCTPase 1;deoxycytidine-triphosphatase 1 protein-coding ENSG00000179958 28777 18310 PROVISIONAL 1316808 DCTN6 dynactin 6 The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008] 8 8 8 p12-p11 28973101 29000347 + 30133355 30160602 + 30013813 30041155 + 1580863;6480464;6907045 15489334;12477932;10525537;10318868;9168138;17207965;15043994;21832049;21577200;21988832;23455152;20360068;21139048;21906983;22505724 10671 E5RFU3;E5RGW9;E5RIK5;E5RK00;O00399 ABBA01023671;AC026979;AK314128;AMYH01018618;BC013175;BI562535;CH471080;CR456851;D79389;D84145;NM_006571 AAH13175;ADQ32806;BAA19984;BAG36818;CAG33132;EAW63466;NP_006562;O00399 Hs.158427;Hs.721134 1724863;2112264;2121518 D8S2254;RH119195;WI-18347 WS-3;WS3;p27 OTTHUMP00000225071;OTTHUMP00000225091;dynactin subunit 6;dynactin subunit p27;novel RGD-containing protein;protein WS-3 APPROVED protein-coding ENSG00000104671 16964 09907 612963 REVIEWED 736897 DCTN4 dynactin 4 (p62) 5 5 5 q31-q32 146169659 146220011 - 150068502 150118769 - 150088309 150138657 - 6480464;6907045 16554302;10671518;15489334;14702039;12477932;10843801;10074429;19109891;22939629;21139048;21693764;21890473;21906983;20360068;22863883;22772370 51164 E5RGG1;E5RI97;E5RK21;H9KVE0;Q9NSJ5;Q9UJW0 ABBA01026272;ABBA01026273;AC008450;AC008453;AF156165;AF195120;AK000299;AK125973;AK296787;AK299517;AK307757;AK311693;AL162085;AMYH01015710;BC026323;CH471062;DC321382;NM_001135643;NM_001135644;NM_016221 AAF03896;AAH26323;ABM83265;ABM86470;BAA91066;BAG54272;BAG59365;BAG61469;CAB82417;EAW61706;EAW61707;EAW61708;EAW61709;NP_001129115;NP_001129116;NP_057305;Q9UJW0 Hs.675564 1846763;1856320 A002Q42;RH71171 DYN4;P62 OTTHUMP00000160558;OTTHUMP00000224464;OTTHUMP00000224465;dynactin 4;dynactin p62 subunit;dynactin subunit 4;dynactin subunit p62 protein-coding ENSG00000132912 15518 13126 614758 VALIDATED 1603060 DCTN1 dynactin 1 This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008] 2 2 p13 74441790 74461472 - 74588281 74619214 - 5535748;5534575;5539209;6480464;6484113;6907045;7240710 19136952;20702129;18364389 9722614;15107855;1828535;17360970;14718566;19564404;19506225;19279216;18922795;18812314;18325928;18305234;18094236;18081319;17932487;17828277;17824900;17532294;17344930;16772339;16505168;16473624;16344560;16240349;16043481;15489334;15375157;15326253;15067220;14702039;14600259;14584027;14581450;14514668;12857853;12789661;12665801;12627231;12477932;12447383;12401177;12391026;12388762;12111331;12063394;11889140;11483508;11461920;11425872;11153697;11056532;21145461;10525537;10196146;10074429;9805007;9799602;9454836;9361024;9342383;9244444;9235942;8955163;8856662;8838327;8522607;8325901;7878030;10189366;8991093;12852857;17353931;15580264;10671518;20518521;11076968;12221128;12852856;16169070;16462731;17139249;18000879;19468067;19778315;19935774;20508983;7790358;20719959;20437543;20679239;20936779;20945553;10978526;22357949;22939629;16600870;15604093;17043677;20360068;21900206;21915335;21987572;21139048;21906983;23547029;20682791;22279557;22542187;22321011;20301623;22119847;22373868;23386061;15231748;20360680;21525035;21963094;22956769;23000965;22777741;23184937;22505724;22987636 1639 C9J1B7;C9JJD0;C9JJN7;C9JKG6;C9JTE5;C9JUI8;C9JZA4;E7EX90;E9PCY0;Q6AWB1;Q6MZZ3;Q9BRM9 AB209625;ABBA01075600;AC005041;AF064203;AF064204;AF064205;AF086947;AJ709213;AK055298;AK297286;AK314352;AK315014;AMYH01010454;BC006163;BC013978;BC071583;BT006758;BX640799;BX647925;BX647972;CA448857;CH471053;DA111497;DA315227;DA417935;DC309469;NG_008735;NM_001135040;NM_001135041;NM_001190836;NM_001190837;NM_004082;NM_023019;NR_033935;U73799;U90445;X98801 AAB52575;AAD00701;AAD03694;AAD55811;AAD55812;AAH71583;AAP35404;ACE86518;ACE87197;BAD92862;BAG59757;CAA67333;CAE45882;CAH10572;CAH10575;EAW99684;EAW99685;EAW99686;EAW99687;NP_001128512;NP_001128513;NP_001177765;NP_001177766;NP_004073;NP_075408;Q14203 Hs.516111 1654056;1705094;2107995;2177632;2177634;2189343;2189449;2191179 DCTN1_8291;IB662;MARC_15767-15768:1017940424:1;MARC_1819-1820:991931443:3;MARC_6321-6322:992007238:1;RH11966;SHGC-4184;SHGC-79964 DAP-150;DP-150;HMN7B;P135 150 kDa dynein-associated polypeptide;OTTHUMP00000160423;OTTHUMP00000202448;OTTHUMP00000202490;OTTHUMP00000202491;OTTHUMP00000202530;OTTHUMP00000202531;OTTHUMP00000202532;dynactin 1 (p150, glued homolog, Drosophila);dynactin subunit 1;p150, Glued homolog;p150-glued APPROVED protein-coding ENSG00000204843 2711 07206 105400;168605;601143;607641 REVIEWED 6481185 DCUN1D2-AS DCUN1D2 antisense RNA q34 100874229 AI203167;AI698600;AL442125 Hs.604091 DCUN1D2-AS2 APPROVED miscrna 39889 6481178 DCUN1D2-AS1 DCUN1D2 antisense RNA 1 100874228 AL160251 APPROVED miscrna 39888 1319944 DCTN3 dynactin 3 (p22) This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 p13 34545051 34552000 - 34603548 34610496 - 34613548 34620496 - 1580863;6480464 9722614;16713569;15489334;15164053;14702039;14667819;12477932;11306820;10671518;11076968;12221128;12852856;7790358;22863883;22939629;20360068;21900206;21139048;21890473;21906983;22505724;15146197;16344560;21963094 11258 F8W786;O75935;Q8NB28 ABBA01065009;AF082513;AK055199;AK091661;AK314730;AL160270;AL450283;AMYH01019338;AW953496;BC000319;BC003004;BC107697;BG715167;BI596981;BI837796;CH471071;CN257020;CR541889;DA212054;NM_001281425;NM_001281426;NM_001281427;NM_007234;NM_024348 AAC61280;AAH00319;AAH03004;AAI07698;ABM82906;ABW03466;BAC03716;BAG37272;CAG46687;EAW58439;EAW58440;EAW58441;EAW58442;NP_001268354;NP_001268355;NP_001268356;NP_009165;NP_077324;O75935 Hs.511768 1848948;2177562 Bdac7f05;WI-14194 DCTN-22;DCTN22;MGC111190 OTTHUMP00000021289;OTTHUMP00000021292;OTTHUMP00000021293;dynactin 3, isoform 1;dynactin complex subunit 22 kDa subunit;dynactin light chain;dynactin subunit 3;p22 APPROVED protein-coding ENSG00000137100 2713 06303 607387 REVIEWED 1603378 DCTN5 dynactin 5 (p25) This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 16 16 16 p12.2 22430985 22459355 + 23560308 23588683 + 23652687 23685068 + 6480464;6907045 17554300;16189514;15489334;15043994;14702039;12477932;10525537;16344560;20508983;21139048;21890473;21906983;20360068;22505724 84516 H3BR94;H3BS05;H3BUD2;I3L0U8;Q9BTE1 ABBA01017072;AC008870;AK027387;AK126469;AK292843;AK299631;AMYH01007383;AMYH01007384;BC004191;CD388246;CH471145;CR745557;DA310703;DB087566;NM_001199011;NM_001199743;NM_032486;NR_037573 AAH04191;ADZ15660;BAB55077;BAF85532;BAG61559;EAW55808;EAW55809;EAW55810;NP_001185940;NP_001186672;NP_115875;Q9BTE1 Hs.435941 1688223;1772893;2119484;2138569;2152127;2186196;5021872;5037552 D8S2279;G17934;RH68099;RH79716;SHGC-14427;SHGC-60478;SHGC-60850;sY3084 MGC3248;p25 OTTHUMP00000162370;dynactin 4;dynactin subunit 5;dynactin subunit p25 APPROVED protein-coding 24594 14551 612962 REVIEWED 1352908 DCTN2 dynactin 2 (p50) This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 q13.3 56210361 56227245 - 57923833 57941114 - 1331348;1580863;6480464;6907045 8647893 10226031;18782227;18182012;17043677;16369996;16189514;16043481;15813749;15580264;15570572;15489334;15345747;15144186;14983524;14702039;12665801;12477932;12401177;11483508;11153697;10827182;10811826;10671518;10525537;9700164;8125298;11889140;16169070;21145461;20463029;17207965;11076968;12221128;12852856;16462731;17139249;19019082;7790358;20029029;20936779;23184937;22863883;22939629;16196087;18029348;21139048;21890473;21906983;21628590;20360068;21900206;16344560;14970193;16051887;17609108;19286658 10540 F5H223;F5H2S7;F8VRV7;F8VW18;F8VX93;F8W0U6;F8W1I6;H0YHL1;H0YI98;Q13561 ABBA01026698;AC022366;AC022506;AK055682;AK096242;AK098794;AK222693;AK292364;AK314705;AMYH01004522;AY189155;BC000718;BC009468;BC014083;CH471054;DB027733;DB569305;NM_001261412;NM_001261413;NM_006400;U50733 AAC50423;AAH00718;AAH09468;AAH14083;AAO34395;ADQ31688;BAD96413;BAF85053;BAG37252;BAG51555;BAG53236;EAW97027;EAW97028;EAW97029;NP_001248341;NP_001248342;NP_006391;Q13561 Hs.289123 1746861;1850637;2160173;5094898 DCTN2;G64804;RH70660;STS-U50733 DCTN50;DYNAMITIN;RBP50 50 kD dynein-associated polypeptide;50 kDa dynein-associated polypeptide;OTTHUMP00000242915;OTTHUMP00000242917;OTTHUMP00000242918;OTTHUMP00000243045;OTTHUMP00000243046;dynactin complex 50 kD subunit;dynactin complex 50 kDa subunit;dynactin subunit 2;p50 dynamitin APPROVED protein-coding ENSG00000175203 2712 09568 607376 REVIEWED 1602987 DCUN1D3 DCN1, defective in cullin neddylation 1, domain containing 3 16 16 16 p12.3 20179279 20221442 - 20776897 20819161 - 20869396 20911561 - 6480464 15988528;12477932;10493829;18823379;19322201;22318606;23201271 123879 Q8IWE4 ABBA01028287;ABBA01028288;AC002394;AK123719;AMYH01007345;AY364247;BC040442;BX648998;CH471228;NM_173475 AAH40442;AAQ76806;BAG53946;EAW66842;NP_775746;Q8IWE4 Hs.101007 1334775;1681304;1682808;1710454;1723155;1754323;2135821;2189547 D16S3046;RH123762;RH67998;RH68228;RH70440;SHGC-132353;SHGC-86238;UniSTS:235764 44M2.4;DKFZp686G23203;DKFZp686O0290;FLJ41725;MGC48972 DCN1-like protein 3;DCUN1 domain-containing protein 3;OTTHUMP00000162291;defective in cullin neddylation protein 1-like protein 3 APPROVED protein-coding ENSG00000188215 28734 14660 VALIDATED 1323358 DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 13 13 13 q34 94938125 94973014 - 113158135 113193024 - 114110134 114145023 - 6480464 21145461;16341674;15988528;15489334;15057823;14702039;12477932;17207965;21832049;23201271 55208 C9J2J1;C9J2J3;C9JAV2;C9JRE2;H7C216;Q6PH85 ABBA01019869;AK000099;AK001566;AL160251;AL442125;AMYH01005402;BC056669;BM836766;CH471085;NM_001014283 AAH56669;ADQ32128;BAA90944;BAA91760;EAX09210;EAX09211;NP_001014305;Q6PH85 Hs.682987 1662418;1667976;1737443;5015861;5037552;7185938 A008R23;D10S16;D13S1005;D8S2279;RH45055 C13orf17;FLJ10704;FLJ20092 DCN1-like protein 2;DCUN1 domain-containing protein 2;OTTHUMP00000018776;chromosome 13 open reading frame 17;defective in cullin neddylation protein 1-like protein 2 APPROVED protein-coding 20328 12614 VALIDATED 1604387 DCUN1D4 DCN1, defective in cullin neddylation 1, domain containing 4 4 4 4 q12 50204352 50278086 + 52404033 52477760 + 52709276 52783003 + 6480464 11256614;16381901;16344560;15988528;15489336;15489334;12477932;11230166;11076863;9039502;19322201;21940857;18654987;23201271 23142 B4DH25;B4DH26;D6RAL8;D6RB33;D6RCB7;D6RDV8;D6RGX7;D6RIY3;H0Y907;H0Y9C5;H0YA35;Q92564 ABBA01003372;ABBA01003373;AC027271;AK027051;AK124346;AK294894;AK294896;AMYH01014173;BC015240;BC041702;BC053897;BX537944;CH471057;D87466;DA770685;DB199153;NM_001040402;NM_015115 AAH53897;BAA13405;BAG57986;BAG57987;CAD97912;CAL37432;CAL37515;CAL37607;CAL38118;EAX05424;EAX05425;EAX05426;EAX05427;EAX05428;NP_001035492;NP_055930;Q92564 Hs.605388 1688006;1709022;2121951;5022578 D1S1423;SHGC-31041;SHGC-67360;SHGC-79579 FLJ42355;KIAA0276 DCN1-like protein 4;DCUN1 domain-containing protein 4;OTTHUMP00000158883;OTTHUMP00000158884;OTTHUMP00000218610;defective in cullin neddylation protein 1-like protein 4 APPROVED protein-coding ENSG00000109184 28998 13791 612977 VALIDATED 1602219 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 3 3 q26.3 184143253 184181020 - 182660559 182698326 - 6480464 18980971;18826954;17018598;16189514;15988528;15657565;15623817;15511464;15489334;15231748;15123463;14702039;12796399;21145461;12477932;10777668;17207965;19473369;22863883;21813641;15840729;18781797;21987572;21139048;21890473;21906983;21963094;22318606;23000965;23201271;23401859;21247897;22505724 54165 C9J0B2;C9J8R4;C9JRU6;C9JUW4;C9JVE2;F8WC32;Q96GG9 ABBA01058488;ABBA01058489;ABBA01058490;AC092953;AF292100;AF456425;AF456426;AK025764;AK056335;AK297328;AK314480;AMYH01013702;BC009478;BC013163;CD687300;CH471052;CS104944;CS185538;HI999504;NM_020640 AAG00606;AAH09478;AAH13163;AAL78672;AAL78673;ADQ32496;BAB15235;BAG37084;BAG51680;BAG59788;CAJ01275;CAJ42719;CCA61624;EAW78341;EAW78342;EAW78343;NP_065691;Q96GG9 Hs.744153 1647125;1684305;1739521;1851234;5015861;5113527 D10S16;D3S3423;RH16196;RH27225;RH79873;STS-H25432 DCNL1;DCUN1L1;RP42;SCCRO;SCRO;Tes3 DCN1-like protein 1;DCUN1 domain-containing protein 1;OTTHUMP00000212783;OTTHUMP00000212784;RP42 homolog;defective in cullin neddylation protein 1-like protein 1;squamous cell carcinoma related oncogene;squamous cell carcinoma-related oncogene APPROVED protein-coding 18184 12067 605905 VALIDATED 1601973 DDA1 DET1 and DDB1 associated 1 19 19 19 p13.11 17322066 17335837 + 17281352 17292099 + 17420337 17434107 + 6480464 17609381;18464893;21145461;19295130;17557237;17452440;12477932;16949367;16964240;19615732;20562859;20360068;20551172;21139048;19322201;23273568;22072767;22190034;22505724 79016 Q9BW61 ABBA01051192;AC010463;AL832922;AMYH01009570;AY563006;BC000615;CH471106;DQ090952;NM_024050 AAH00615;AAS66629;AAZ41375;EAW84593;EAW84594;NP_076955;Q9BW61 Hs.466154 1673784;1679311;1683022;1689245;1773265;1857654;5015861;5024756;7185938 D10S16;RH70087;RH75817;RH79874;RH80030;RH93609;STS-W45157;WI-18581 C19orf58;MGC2594;PCIA1 DET1- and DDB1-associated protein 1;PCIA-1;cross-immune reaction antigen PCIA1;placenta cross-immune reaction antigen 1 protein-coding ENSG00000130311 28360 15107 VALIDATED 1348637 DCX doublecortin This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] X X q22.3-q23 110423663 110542062 - 110537007 110655460 - 1580863;6480464;7240710 11001923;19221293;18685874;18415660;17897623;17283321;17178868;17111359;17081983;16835924;16520969;16344560;16195916;15772651;15714065;15663475;15607950;15489334;15345747;15057976;15045646;14999500;14741103;14702039;14550532;12838518;12692530;12552055;12477932;12427674;12390976;12223548;12027577;11857568;11601509;11591131;11468322;11175293;10807542;10441340;10399933;10369164;9989615;9817918;9668176;9618162;9489700;9489699;9132485;17482550;19050731;19094064;19713529;19844571;16869982;20726879;20974813;20236041;17207965;21832049;14741102;21477071;21846577;21966452;20301364;21044950;22779921;12885786;22727374;22833188 1641 A8K340;E7EU50;H3BLV5;O43602 ABBA01043303;ABBA01043304;ABBA01043305;ABBA01043306;ABBA01043307;ABBA01043308;ABBA01043309;ABBA01043310;ABBA01043311;ABBA01043312;ABBA01043313;ABBA01043314;ABBA01043315;ABBA01043316;ABBA01043317;AF034634;AF040254;AF040255;AJ003112;AJ005591;AJ005592;AK002120;AK290455;AK297297;AK299822;AL031117;AL450490;AMYH01022840;AMYH01022841;AU120758;AW163329;BC027925;CH471120;DA497601;DC375659;NG_011750;NM_000555;NM_001195553;NM_178151;NM_178152;NM_178153 AAC31696;AAC31797;AAC52037;AAH27925;ADQ32309;BAF83144;BAG59765;BAG61691;CAA05867;CAA06617;EAX02642;EAX02643;EAX02644;EAX02645;EAX02646;EAX02647;EAX02648;EAX02649;NP_000546;NP_001182482;NP_835364;NP_835365;NP_835366;O43602 Hs.34780 1652739;1674735;1772000;1775574;1855029;1898770;2122716;2143802;2161462;2177898 AFM340za9;AL008939;DXS1188;DXS7357;REN20181;RH15935;RH47363;SHGC-34529;SHGC-58209;UniSTS:11003 DBCN;DC;FLJ51296;LISX;SCLH;XLIS OTTHUMP00000023859;OTTHUMP00000023860;OTTHUMP00000216315;OTTHUMP00000216316;doublecortex;doublin;lis-X;lissencephalin-X;neuronal migration protein doublecortin APPROVED protein-coding ENSG00000077279 2714 02127 300067;300121 REVIEWED 1601949 DCUN1D5 DCN1, defective in cullin neddylation 1, domain containing 5 11 11 11 q22.3 100082951 100124478 - 102438031 102468079 - 102921413 102962944 - 6480464 15988528;15489334;14702039;12477932;16344560;16196087;19471022;21139048;21890473;21906983;21988832;23098533;23201271;22505724 84259 E9PLH8;E9PLS2;E9PM04;E9PM78;E9PQU4;E9PQV9;H0YCN4;H0YD80;J3QQL8;Q9BTE7 ABBA01039928;AK056993;AK094744;AK298227;AMYH01003995;AP001486;AY364246;BC004169;BC021074;CH471065;DB039638;NM_032299 AAH04169;AAQ76805;BAB71336;BAG60496;EAW67036;EAW67037;EAW67038;NP_115675;Q9BTE7 Hs.503716 1651729;1732780;1767510;2130378;2139680;2139956;2160613;2174710;2174712;2185545 A002B09;D11S1942E;D11S4578;D11S4624;G19877;RH12087;RH12902;SHGC-2678;SHGC-30884;STS-AA021186 FLJ32431;FLJ37425;MGC2714 DCN1-like protein 5;DCUN1 domain-containing protein 5;OTTHUMP00000231072;OTTHUMP00000231074;defective in cullin neddylation protein 1-like protein 5 APPROVED protein-coding 28409 14520 VALIDATED 733826 DCXR dicarbonyl/L-xylulose reductase The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010] 17 17 q25.3 77587046 77588862 - 79993757 79995573 - 632676;1580863;6480464;6907045;7240710 11882650 19337691;19027726;18086765;18079483;17576332;17434498;16847567;16616743;15906319;15489334;15103634;12680326;12665801;12477932;12136162;10385429;8125298;11752456;19615732;21832049;19442656;22042873;21139048;21890473;21906983;22505724 51181 J3KRZ4;J3KS22;J3KSZ5;J3QL34;J3QRQ2;J3QS36;J3QS45;Q7Z4W1 AA446582;AB013846;ABBA01019661;AC137723;AF113123;AF139841;AF515623;AF515624;AF515625;AK226040;AMYH01008727;AV653537;BC001470;BC003018;BG434209;BT006881;CB959852;CH471099;NG_027681;NM_001195218;NM_016286 AAF14864;AAH01470;AAH03018;AAM54026;AAN59786;AAO15991;AAP35527;AAP97273;BAB64299;EAW89732;EAW89733;NP_001182147;NP_057370;Q7Z4W1 Hs.9857 1659202;5091932 RH11648;SHGC-31983 DCR;HCR2;HCRII;KIDCR;P34H;SDR20C1;XR L-xylulose reductase;XR;carbonyl reductase 2;carbonyl reductase II;diacetyl/l-xylulose reductase;human carbonyl reductase 2;kidney dicarbonyl reductase;short chain dehydrogenase/reductase family 20C, member 1;sperm surface protein P34H APPROVED protein-coding ENSG00000169738 18985 16320 260800;608347 REVIEWED 1346413 DDAH2 dimethylarginine dimethylaminohydrolase 2 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008] 6 6 p21.3 31802796 31806018 - 31694817 31698039 - 1304476;1580863;6480464 10493931 16928504;16130169;19250061;19143821;18342305;18251679;17002794;16920729;16189514;16021519;15489334;14656967;14574404;14550280;12477932;12370443;11042152;10950934;10691782;10384126;19913121;20628086;19060904;19666123;19822957;19851445;20010544;20209122;20936901;21677405;19570459;21900206;21898353;22428028;22558392;19738201;22579530;23000965;23171931;23430976;22505724;22923027 23564 A3KGN5;H0Y7N1;O95865;Q5SRR8;Q5SSV3 ABBA01038084;AF070667;AF087894;AF129756;AJ012008;AK026191;AK098671;AL662899;AL670886;AL844216;AMYH01016217;BA000025;BC001435;BX248244;CH471081;CR354443;CR759787;CR936239;NM_013974 AAD18074;AAD20973;AAH01435;AAP97193;BAB63377;CAB46079;EAX03500;EAX03501;EAX03502;NP_039268;O95865 Hs.247362 1660371;1694552;1778191;2141001 D6S2132;G43219;RH41827;STS-W60956 DDAH;DDAHII;G6a;NG30 DDAH-2;N(G),N(G)-dimethylarginine dimethylaminohydrolase 2;NG-dimethylarginine dimethylamino hydrolase homolog;OTTHUMP00000029307;OTTHUMP00000029308;OTTHUMP00000029310;OTTHUMP00000174406;OTTHUMP00000174488;OTTHUMP00000174489;S-phase protein;alternative name: NG30, G6a;dimethylargininase-2;dimethylarginine dimethylaminohydrolase II;protein G6a APPROVED protein-coding ENSG00000213722 2716 09204 604744 REVIEWED 1343347 DDAH1 dimethylarginine dimethylaminohydrolase 1 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008] 1 1 p22 85556756 85703411 - 85784168 86044046 - 1625582;1580863;6480464 16444868 15489334;12441345;21493890;9874257;18292189;18251679;17895252;17881609;17273169;17075694;16920729;15781754;15501905;14702039;12477932;14638548;7608105;11811522;11546769;10950934;10691782;10493931;8982498;19913121;20628086;19663506;19666120;19682581;20877624;20010544;20019334;20167924;20209122;20379614;20381070;21212404;21303562;21264497;21677199;21722652;15840729;21833088;21174581;21975354;19322201;22492959;21565611;22982060;22521321;21420186;22700861 23576 B1AKK2;B4DGT0;B4DYP1;B4E3V1;O94760 ABBA01045637;ABBA01045638;ABBA01045639;AC092807;AK024917;AK026093;AK055626;AK098405;AK294752;AK302531;AK304876;AK309225;AK312432;AL078459;AL360219;AMYH01000754;AW051386;BC033680;BC036432;BC043235;BX648145;CH471097;DC324361;NM_001134445;NM_012137 AAH33680;AAH43235;BAG35341;BAG57891;BAG63803;BAG65613;CAI45988;EAW73199;EAW73200;EAW73201;EAW73202;NP_001127917;NP_036269;O94760 Hs.713411 1648666;1650887;1662623;1674286;1682165;1685081;1712951;1713465;1717013;1720401;1726445;1727559;1727685;1739929;1754413;1781526;1781634;1857967;2118992;2140759;2153651;2154247;2158942;2175437;2180473;2187233;5019675 A009C44;AL009580;D1S1172;D1S2449;D1S2519;D1S3471;D1S401;G32430;G59003;G62602;G63037;G63256;RH119591;RH120565;RH124035;RH25273;RH66527;RH93034;RH93291;SHGC-132432;SHGC-142641;SHGC-154514;SHGC-2550;SHGC-31693;SHGC-31729;SHGC-33805;SHGC-75085 DDAH;FLJ21264;FLJ25539 DDAH-1;DDAHI;N(G),N(G)-dimethylarginine dimethylaminohydrolase 1;NG, NG-dimethylarginine dimethylaminohydrolase;OTTHUMP00000012304;dimethylargininase-1 APPROVED protein-coding ENSG00000153904 2715 09203 604743 REVIEWED 1318138 DDHD2 DDHD domain containing 2 8 8 8 p11.23 37041566 37073339 + 38208264 38238143 + 38089009 38120287 + 6480464 19330026;14702039;12477932;11788596;9872452;21832049;18029348;16344560;20932832;23176823;21139048;21890473;22922100;19632984 23259 B3KPM6;B3KXB5;E9PIF5;E9PK57;E9PKE6;E9PL51;E9PM60;E9PP45;E9PPH8;E9PPN2;E9PQY9;H0YE64;H0YF17;H0YF30;O94830 AB018268;ABBA01023539;ABBA01023540;ABBA01023541;ABBA01023542;AC084024;AC087362;AK023218;AK026961;AK056525;AK094951;AK125904;AK127040;AK299875;AMYH01018653;BC010504;BI789108;BM510691;CH471080;DA333302;DA412370;NM_001164232;NM_001164234;NM_015214 AAH10504;BAA34445;BAB14470;BAG51738;BAG54264;BAG54427;BAG61725;EAW63323;EAW63324;NP_001157704;NP_001157706;NP_056029;O94830 Hs.434966 1340556;1652783;1677909;5015619;5015861;5020414;5022578;5022651;5037552;5096290;5109281;7185938 AFM265zf9;D10S16;D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;D8S536;L17688;RH15846;WI-15923 KIAA0725;SAMWD1;SPG54 DDHD domain-containing protein 2;OTTHUMP00000225879;OTTHUMP00000225880;OTTHUMP00000228499;PA-PLA1 like;SAM, WWE and DDHD domain containing 1;SAM, WWE and DDHD domain-containing protein 1;phospholipase DDHD2;sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1 protein-coding ENSG00000085788 29106 16788 615003;615033 VALIDATED 734177 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011] 7 7 p12.2 50493628 50600648 - 50526134 50633154 - 1358586;1600876;1580863;1300048;4139904;5128860;5129121;5128849;5129231;4139893;5128880;5129140;5129145;5129683;5129083;6480464;6907045;7240710 12555230;19342614;20232137;9853519;20505134;15935614;12703659;19167406;16403819;16204272;18457899;18937310 16338639;12864730;19455600;19336370;19221445;19184136;19156168;19086053;19058789;19041269;18821565;18814238;18586020;18567514;18270970;18163388;17967881;17948905;17938636;17533144;17200166;17184203;16740595;15879433;15532536;15489334;15322424;15318031;15079002;14991824;12718431;12690205;12477932;12200739;12116187;11992572;11750071;10391209;8889548;8510497;7567987;2590185;1612608;1540578;1395716;1357595;20535562;19913121;20602615;20628086;20092830;19465909;19589383;19684603;19703902;19800137;19874574;19944766;20379614;20424616;20468064;15028279;22571720;20691427;20732903;20734064;21083670;20832343;21982764;21988832;21479916;22143761;21797889;21541720;23064786;23512250;23321058;23083099 1644 C9JMP0;F8WER1;H7BZF7;P20711;Q53Y41 AACC02000075;ABBA01011801;AC018705;AJ310724;AK298321;AK298392;AMYH01017245;AU310260;AW772056;AY526322;BC000485;BC008366;BM713211;BT007009;CD013934;CD013935;CD013936;CD013937;CD013938;CH236955;CH471128;CR456724;DC362073;M76180;M84592;M88700;NG_008742;NM_000790;NM_001082971;NM_001242886;NM_001242887;NM_001242888;NM_001242889;NM_001242890;S46516 AAA20894;AAA58437;AAB23675;AAD40482;AAH00485;AAH08366;AAP35655;AAS00092;AAS01995;ABW03755;BAG60574;BAG60627;CAC84071;CAG33005;EAL23898;EAW60970;EAW60971;EAW60972;NP_000781;NP_001076440;NP_001229815;NP_001229816;NP_001229817;NP_001229818;NP_001229819;P20711 Hs.359698 1645966;1692040;1757663;1775843;2120893;2161083;5121556;5126529 AL033750;D7S1856;DDC;G07130;GDB:1317900;RH17737;SGC31303;SHGC-146175 AADC OTTHUMP00000159585;OTTHUMP00000209020;OTTHUMP00000209022;OTTHUMP00000209025;OTTHUMP00000209026;OTTHUMP00000220214;aromatic-L-amino-acid decarboxylase;dopa decarboxylase APPROVED protein-coding ENSG00000132437 2719 00145 107930;608643 REVIEWED 1318429 DDHD1 DDHD domain containing 1 14 14 14 q21 33553197 33669789 - 52582491 52689750 - 53503458 53620046 - 1580863;6480464;7240710 16806233;16368877;16344560;15489334;14702039;12477932;11214970;9488669;20359546;21906983;15786464 80821 G3V2P6;Q8NEL9 AB051492;ABBA01018180;ABBA01018181;ABBA01018182;AI871726;AK058137;AK091528;AK124546;AK125372;AK125556;AL352979;AL356020;AMYH01005739;AY173947;BC018014;BC030703;BY796571;CH471061;DA212814;DQ315474;GU376468;NM_001160147;NM_001160148;NM_030637 AAH18014;AAH30703;AAO49717;ABC43196;ADB80245;BAB21796;BAB71679;EAW80621;EAW80622;EAW80623;EAW80624;NP_001153619;NP_001153620;NP_085140;Q8NEL9 Hs.125525 1670618;1674025;1677204;1736424;1751439;1847018;2145533;2163907;2166576;2179238;2181920;5015404;5022200;5022383 A002S11;D14S1255;D14S1295;D14S685E;ECD04345;G35573;G36181;L17705;L18426;RH66693;RH91754;SGC30420;SHGC-105255;SHGC-34023 FLJ34209;FLJ42555;PA-PLA1;PAPLA1;SPG28 DDHD domain-containing protein 1;OTTHUMP00000178997;OTTHUMP00000178998;OTTHUMP00000178999;phosphatidic acid-preferring phospholipase A1 homolog;phosphatidic acid-preferring phospholipase A1-like protein;phospholipase DDHD1;spastic paraplegia 28 (autosomal recessive) protein-coding 19714 07482 609340;614603 VALIDATED 734016 DDB1 damage-specific DNA binding protein 1, 127kDa The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012] 11 11 q12-q13 60823495 60857242 - 61066919 61100684 - 1580863;6480464;6907045;7246920;7246919 22572993;22824526 21205828;8407967;12732143;17088560;10583946;11673459;18593899;10214908;19276361;19208841;19109893;18936169;18703516;18606781;18524825;18524771;18381890;18332868;18289873;18235224;17626091;17620334;17609381;17360488;17079684;17041588;16964240;16951172;16949367;16940174;16861906;16861890;16678110;16537899;16473935;16413485;16407252;16407242;16227264;16223728;15767425;15489334;15009096;14739464;12743284;12477932;12388698;12151405;12050362;12034848;10777491;10574459;8798680;8538642;8530102;8171034;7815490;3175673;11564863;18794347;15882621;15448697;23455922;23478441;23612978;23677995;17559673;18274552;18775313;19287380;20360068;20551172;20870715;21081666;21550341;12107171;15231748;16169070;17148452;17392787;17643375;19557001;19723642;19818632;9418871;16036220;20562859;20395298;20347598;15811626;16055720;19759913;20211142;21237244;20089662;20508642;20811636;22863883;23109433;21320693;12840015;16196087;20541997;20932471;20855601;20972266;21988832;22053931;22863007;22902626;23000965;15174051;18247557;19805454;17630831;18781797;19651607;20223979;20368362;20639865;21139048;21228219;21415862;21890473;21906983;21963094;21987572;21987584;22118460;22118674;22157821;22145905;22342275;22232169;22570418;22705827;11425514;16503656;16916636;17452440;20178741;22767593;21098278;22362772;22586326;17500595;22822215;22939629;23085759;12812979;14751237;16260596;17725712;22032989;10585395;17314515;18464893;21145461;22134138;22438978;22451935;22474075;22902628;22910413;17855541;18514189;18541215;19056823;19275579;19275585;19275588;19295130;19380743;19458171;19667756;19674438;19798433;20008788;20012529;20069611;20380700;21957298;22072767;22174317;22190034;22190037;22292079;22505724;22935713;22948661;22952844;23063525;23137809;23297343;23362280 1642 B4DG00;F5GWI0;F5GY55;F5GYG8;F5GZ34;F5GZY8;F5H0Y5;F5H198;F5H238;F5H2L3;F5H4N9;F5H581;F5H6C5;F5H775;F5H7A0;F8WF81;Q16531 AA665872;ABBA01003198;AJ002955;AK294341;AK294493;AK299650;AK302924;AK303032;AK311476;AK312436;AL831958;AMYH01003677;AP003037;AP003108;AY960579;BC011686;BC021044;BC032080;BC050530;BC051764;CD242268;CH471076;DC334780;L40326;NG_032697;NM_001923;U18299;U32986 AAA62838;AAA88883;AAC50349;AAH11686;AAH50530;AAH51764;AAX44048;BAG35345;BAG57611;BAG61570;BAG64157;BAH11787;BAH13845;CAA05770;EAW73933;EAW73934;EAW73935;EAW73936;EAW73937;NP_001914;Q16531 Hs.290758 1665791;1673387;1673389;1708050;1770616;1848502;2110361;2115982;2152374;2184002;2191175;2191385;7186807 A002C24;D11S4371;D11S952E;DDB1;DDB1_3154.2;G19976;MARC_15735-15736:1013528885:1;MARC_21157-21158:1025280537:1;RH11844;RH78281;SHGC-81421;T03687 DDBA;UV-DDB1;XAP1;XPCE;XPE;XPE-BF DDB p127 subunit;DNA damage-binding protein 1;DNA damage-binding protein a;HBV X-associated protein 1;OTTHUMP00000238316;OTTHUMP00000238318;UV-DDB 1;UV-damaged DNA-binding factor;UV-damaged DNA-binding protein 1;XAP-1;XPE-binding factor;damage-specific DNA-binding protein 1;damage-specific dna binding protein 1;xeroderma pigmentosum group E-complementing protein APPROVED protein-coding ENSG00000167986 2717 10952 600045 REVIEWED 1320906 DDB2 damage-specific DNA binding protein 2, 48kDa This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. [provided by RefSeq, Jul 2008] 11 11 p12-p11 47193089 47217339 + 47236493 47260769 + 1601050;1580863;6480464;6907045;7240710;7246920 8798680;22572993 8407967;12732143;10583946;10214908;19428372;19339246;19237606;19109893;19064572;18936169;18806262;18593899;18431487;18089819;17967871;17660462;17630510;17357082;17081983;17041588;16678110;16527807;16522664;16473935;16344560;16260596;16223728;15882621;15644494;15489334;14751237;14702039;14560002;12944386;12812979;12553360;12496474;12477932;12151405;12050362;12034848;11971958;11852074;11673459;11564863;9418871;8602529;8530102;8350924;15856024;16951172;20013802;20360068;21550341;12107171;16949367;16964240;17392787;19056823;19541625;19615732;20368362;20522537;19714462;15811626;17207965;19759913;20819778;20398405;10585395;17360488;17609381;21145461;22134138;22846800;16713579;20562859;15448697;21107348;22863883;23159851;11564859;17803295;21388382;10777491;21963094;23000965;23319653;21987572;22039351;22118460;11425514;16009940;17079684;17626091;22334663;21139048;21890473;21906983;20301571;22492724;22623531;17000644;22822215;23045548;23605047;12549820;17855541;19295130;22952844 1643 Q92466 AA278953;AB107037;AB107038;AB107039;AB107040;ABBA01060721;AC018410;AC090589;AK091640;AK313262;AMYH01003541;AY220533;BC000093;BC050455;BT007139;CH471064;DB053816;NG_009365;NM_000107;U18300 AAB07897;AAH00093;AAO25655;AAP35803;ABM81645;ADQ32398;BAD12557;BAD12558;BAD12559;BAD12560;BAG36072;EAW67952;EAW67953;EAW67954;EAW67955;EAW67956;EAW67957;EAW67958;EAW67959;NP_000098;Q92466 Hs.700338 1686110;1688590;1703978;1712116;1847258;1847360;2156001;2161956;5113517;5118486 D11S3355;D11S4389;G54107;RH12304;RH18008;RH18246;RH27353;RH27445;RH79156;SHGC-77757 DDBB;FLJ34321;UV-DDB2 DDB p48 subunit;DNA damage-binding protein 2;UV-DDB 2;UV-damaged DNA-binding protein 2;damage-specific DNA-binding protein 2;xeroderma pigmentosum group E protein APPROVED protein-coding ENSG00000134574 2718 02886 278740;600811 REVIEWED 1342784 DDIT4L DNA-damage-inducible transcript 4-like 4 4 4 q24 98405052 98409638 - 101326050 101330636 - 101107027 101111655 - 737633;6480464 12477932 16189514;15632201;15308555;14702039;12453409;19268525;19491193;16344560;17207965;19616115 115265 D6RD49;D6RJ99;Q96D03 ABBA01063677;ABBA01063678;AK094236;AK312926;AL832277;AMYH01014426;AP001961;BC013592;CH471057;DB208869;NM_145244 AAH13592;ADQ32412;BAC04315;BAG35770;CAI46176;EAX06119;NP_660287;Q96D03 Hs.480378 1664557;1684292;1856464;1856797;5024910 D4S2493E;Ddit4l;SHGC-24757;SHGC-50253;SHGC-8633 REDD2;Rtp801L DNA damage-inducible transcript 4-like protein;HIF-1 responsive protein RTP801-like;OTTHUMP00000219578;OTTHUMP00000219579;OTTHUMP00000219580;REDD-2;homolog of mouse SMHS1;protein regulated in development and DNA damage response 2;regulated in development and DNA damage response 2 protein-coding ENSG00000145358 30555 09663 607730 VALIDATED 1604424 DDI1 DNA-damage inducible 1 homolog 1 (S. cerevisiae) 11 11 11 q22.3 101068396 101071010 + 103412518 103415132 + 103907308 103909922 + 6480464 16189514;15060002;14702039;12477932;19913121;20628086;17207965 414301 Q8WTU0 ABBA01039921;AF429971;AK093336;AMYH01003997;AP003043;BC021172;BC021710;BC022017;BC022018;CH471065;DB449163;DB513526;HC006902;NM_001001711 AAH21172;AAH21710;AAH22017;AAH22018;AAP97303;ADQ31669;BAC04135;CBH19256;EAW67047;NP_001001711;Q8WTU0 Hs.591941 1677502 RH92113 FLJ36017 DDI1, DNA-damage inducible 1, homolog 1;DNA-damage inducible protein 1;OTTHUMP00000231644;protein DDI1 homolog 1 APPROVED protein-coding ENSG00000170967 18961 13128 VALIDATED 1346554 DDIT4 DNA-damage-inducible transcript 4 10 10 q22.1 73703683 73705803 + 74033677 74035797 + 633979;737633;6480464;6484113;6907045 11884613;12477932 12453409;11256614;19221489;19114033;18953439;18796435;17307335;17005863;16713569;16381901;16341674;16258273;15988001;15632201;15592522;15489336;15180327;15146197;14646594;11230166;11076863;16169070;20374513;18029348;20473305;19210572;19127203;19557001;19996311;20166753;20354178;21123297;21266827;21414293;21258409;21540236;16196087;21460850;21798997;21900206;21909097;18781797;20639865;21987572;20972266;21139048;21890473;21906983;21963094;22053931;23000965;23193052;22505724 54541 Q9NX09 ABBA01020356;AF335324;AK000507;AL136668;AL683820;AMYH01002823;AY090097;BC000708;BC007714;BC015236;BE882343;BM843387;CH471083;CN428398;NM_019058 AAH00708;AAH07714;AAH15236;AAL38424;AAM10442;ABM81910;ABM85085;BAA91214;CAB66603;CAL37485;EAW54452;EAW54453;NP_061931;Q9NX09 Hs.523012 2109221;2139254;2139256;2148930;2155221;2163420 A001Z38;DDIT4_9797;G19827;RH44306;RH78653;SHGC-31334 Dig2;FLJ20500;REDD-1;REDD1;RP11-442H21.1;RTP801 DNA damage-inducible transcript 4 protein;HIF-1 responsive RTP801 (RTP801);HIF-1 responsive protein RTP801;OTTHUMP00000019785;protein regulated in development and DNA damage response 1 protein-coding ENSG00000168209 24944 09662 607729 VALIDATED 1603951 DDI2 DNA-damage inducible 1 homolog 2 (S. cerevisiae) 1 1 1 p36.21 14426817 14470431 + 15816657 15859335 + 15943953 15987552 + 6480464 15146197;14702039;12838346;12477932;20379614;22863883;20972266;21139048;21890473;21906983;20639865;21987572;19193609;22053931;22505724 84301 H0YI90;H0YII4;Q5TDH0 ABBA01004702;ABBA01004703;ABBA01004704;ABBA01004705;ABBA01004706;AK057374;AK293006;AL121992;AL598343;AMYH01000274;BC006011;BN000122;CH471167;CN261722;NM_032341 AAH06011;BAF85695;CAD67552;EAW51740;EAW51741;EAW51742;EAW51743;NP_115717;Q5TDH0 Hs.718857 MGC14844;RP4-680D5.5 DDI1, DNA-damage inducible 1, homolog 2;DNA-damage inducible protein 2 (DDI2);OTTHUMP00000002491;protein DDI1 homolog 2 APPROVED protein-coding 24578 18702 VALIDATED 1345220 DDN dendrin 12 12 12 q13.12 48183719 48187874 - 47675200 47679355 - 49388933 49393088 - 6480464 18356187;12559952;12477932;9872452;8915891;19913121;20628086;16751601;21606645;16464232 23109 O94850 AB018292;ABBA01031498;AC011603;AMYH01004436;BC039264;BC136398;BC136399;CH471111;NM_015086 AAI36399;AAI36400;BAA34469;EAW58031;NP_055901;O94850 Hs.591044 1646160;2218468 A008J41;DDN_4685 KIAA0749 OTTHUMP00000209341;dendrin protein-coding ENSG00000181418 24458 10294 610588 VALIDATED 69165 DDIT3 DNA-damage-inducible transcript 3 This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010] 12 12 q13.1-q13.2 56196638 56200567 - 57910371 57914300 - 1599729;1599731;1599736;1599726;1599728;1599745;1580863;6480464;6907045;7240710 16400006;15921666;15476864;1283316;16936110;8051100 7503811;8510758;14667815;1339368;19470730;19116245;19107326;19037087;18977241;18850010;18772138;18680108;18679584;18593935;18541659;15917187;15870698;15775988;15688424;15659384;15588942;15489334;15327748;15316935;15308577;15286712;15277326;15271854;15053923;15001576;14685163;14669326;14635187;14630918;12939601;12876286;12805554;12706815;12618752;12477932;12297725;12168790;12138118;12097650;12082616;12069855;12006103;11948400;11805088;10713066;10523647;8662954;8650547;8637704;8622660;2372777;1990262;1547942;18534616;18396163;18394432;18278507;17968315;17872950;17709599;17686866;17652152;17647282;17620318;17616685;17601350;17513780;17468515;17276738;17273769;17171638;16942595;16651630;16463383;16189514;16098044;16005964;16511829;22146569;16434966;20430872;20424162;16958678;18940792;19061639;19558691;19672300;19722195;19723703;19733664;19744850;19816510;19855386;20017906;20032083;20116099;20554776;20122151;8889549;20492726;20562859;20889551;20876114;20211142;20829347;21044953;22570737;21189163;21697995;21402790;21179554;21741997;20398657;22669460;21479362;21697087;21471847;21700680;21732477;22157935;21365646;21693764;22242125;22261448;22096849;22246806;22496840;21966512;15322075;21988832;22094256;22753273;22995304;23065795;23213463;23412101;21801305;22815481;22289049;22800509;22691366;23339468 1649 F8W133;P35638;Q53YD1 AA054097;AA476561;ABBA01026699;AC022506;AI658803;AK316581;AMYH01004521;AV729744;AY461580;AY880949;BC003637;BC064556;BC107859;BM464290;BT006691;BU664077;CH471054;CN482428;NG_027674;NM_001195053;NM_001195054;NM_001195055;NM_001195056;NM_001195057;NM_004083;S40706 AAB22646;AAH03637;AAP35337;AAW56077;ACE86494;ACE87175;BAG38169;EAW97021;EAW97022;EAW97023;NP_001181982;NP_001181983;NP_001181984;NP_001181985;NP_001181986;NP_004074;P35638 Hs.505777 1655432;1744241;1769907;1792408;2183069;5016478;5020948;5022578;5109281 D12S1943;D1S1423;D1S1425;G35510;GDB:434012;GDB:438520;PMC150726P8;RH17412;RH17902 CEBPZ;CHOP;CHOP-10;CHOP10;GADD153;MGC4154 C/EBP homologous protein;C/EBP zeta;CCAAT/enhancer-binding protein homologous protein;DDIT-3;DNA damage-inducible transcript 3 protein;OTTHUMP00000242752;OTTHUMP00000242753;OTTHUMP00000242754;OTTHUMP00000242755;OTTHUMP00000242756;c/EBP-homologous protein 10;dna-damage inducible transcript 3;growth arrest and DNA damage-inducible protein GADD153;growth arrest- and DNA damage-inducible APPROVED protein-coding ENSG00000175197 2726 00529 126337;613488 REVIEWED 7174742 DDTP1 D-dopachrome tautomerase pseudogene 1 3 38556936 38557321 - 101060160 ABBA01024819;AMYH01013093;AP006241;XM_003959970;XM_003960322;XM_003960923 XP_003960019;XP_003960371;XP_003960972 D-dopachrome decarboxylase-like;D-dopachrome tautomerase pseudogene 1 protein-coding 44546 MODEL 1314668 DDO D-aspartate oxidase The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q21 110820076 110843446 - 110713383 110736753 - 1580863;6480464;6907045 9163533;19125110;15489334;14574404;12477932;12209855;9820813;9148742;8187937;1991137;21608;20201926;20564561;20603179;21906983 8528 F2Z2E0;Q99489 AB496420;ABBA01026119;AK293029;AL050350;AMYH01016588;AX786391;AX786392;BC032786;CH471051;D89858;NM_003649;NM_004032 AAH32786;BAA14031;BAF85718;BAI44653;CAE11960;CAE11961;EAW48316;EAW48317;EAW48318;NP_003640;NP_004023;Q99489 Hs.591348 1645258;1769379;2107997;2133607 A006U18;DDO_8822;RH12570;RH37573 DASOX;DDO-1;DDO-2;FLJ45203 D-aspartate oxidase;D-aspartate oxidase, DDO;OTTHUMP00000017001;OTTHUMP00000017002;OTTHUMP00000017003;aspartic oxidase APPROVED protein-coding ENSG00000203797 2727 00498 124450 REVIEWED 1625820 DDTL D-dopachrome tautomerase-like 22 22 22 q11.23 8104926 8115326 + 22639026 22644748 + 24309026 24314748 + 16344560;14702039;10591208;9729470;19913121;20628086;22939629;21139048;22001757 100037417 A6NHG4 ABBA01055124;AI686044;AK296110;AMYH01012649;AMYH01012650;AMYH01012651;AMYH01012652;AP000350;AP000351;DB157727;NM_001084393 A6NHG4;BAG58859;NP_001077862 Hs.1581 1665532;1680669;1759939;2175253 D22S1558;RH69708;SHGC-170343;STS-U49785 D-dopachrome decarboxylase-like protein;D-dopachrome tautomerase-like protein;OTTHUMP00000198530 protein-coding ENSG00000099974 33446 VALIDATED 1351249 DDU dermo-distortive urticaria 7240710 6945804;7294069 29764 2733 1312254 DDR2 discoidin domain receptor tyrosine kinase 2 Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 q23.3 160868852 161016879 + 162602228 162750255 + 1580863;6480464;7240710 8247548;8125298;7774938;1567394;1486804;9659899;19110212;18201965;17968949;17786355;17703188;17299390;16967187;16806867;16186108;16186104;15544808;15111304;14702039;12935821;12477932;11884411;11133186;8889549;20223752;20628624;19415460;19536175;20379614;20564243;21335558;16626936;21701781;21477649;21963094;22832484;22939624;23131558;23233663;23401445;21139048;19322201;23307244;22328973 4921 H0Y570;Q16832;Q5T241;Q5T244;Q5T245 AA148473;ABBA01047303;AK095975;AK225063;AK225196;AK314388;AL445197;AL596325;AMYH01001465;AY423733;AY871271;BC052998;BX640899;CF994640;CH471067;NG_016290;NM_001014796;NM_006182;X74764 AAH52998;AAS00496;AAX11427;ACE86808;ACE87495;BAG37013;BAG53183;CAA52777;CAE45946;EAW90713;EAW90714;NP_001014796;NP_006173;Q16832 Hs.275757;Hs.593833 1665331;1667555;1677700;1682445;1791506;2134239;5094046 D1S2420;D1S2434;G34973;L18077;PMC112259P1;RH65150;RH66899 MIG20a;NTRKR3;TKT;TYRO10 CD167 antigen-like family member B;OTTHUMP00000032332;OTTHUMP00000038368;cell migration-inducing protein 20;discoidin domain receptor 2;discoidin domain receptor family, member 2;discoidin domain-containing receptor 2;discoidin domain-containing receptor tyrosine kinase 2;hydroxyaryl-protein kinase;migration-inducing gene 16 protein;neurotrophic tyrosine kinase receptor related 3;neurotrophic tyrosine kinase, receptor-related 3;receptor protein-tyrosine kinase TKT;tyrosine-protein kinase TYRO10;tyrosylprotein kinase APPROVED protein-coding ENSG00000162733 2731 01868 191311;271665 REVIEWED 7204936 DDX10P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 1 10 31207937 31210059 - 100421371 ABBA01033409;AL359532;AMYH01002218;NG_025423 pseudo 44960 INFERRED 7204988 DDX10P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 2 9 q21.32 84700869 84703745 - 401533 ABBA01033990;AL158047;AMYH01021452;NG_021626 pseudo 44961 INFERRED 735912 DDR1 discoidin domain receptor tyrosine kinase 1 Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 6 6 p21.3 30959840 30975912 + 30851861 30867933 + 1580863;1642301;6480464 16497176 9659899;8302582;8390675;19401332;19262089;18836851;18593464;18362184;18270328;18190796;18065762;18023033;17982627;17970783;17704737;17440927;17440435;17299390;17101694;17027969;17001518;16912190;16774916;16702430;16440311;16337946;16169070;15489334;15240533;15213330;15146197;15136580;15111304;14764702;14574404;12935821;12477932;11606478;11472367;11133186;11126911;10783152;9659900;9492013;17721511;9396043;8977099;8796349;8682498;8622863;8226977;8139570;7848919;7834423;7789998;7774938;10681566;21398698;22507556;20093046;21356365;19752756;19837266;19851445;20007060;20041166;20182441;20353877;20372823;20487506;20380825;20219323;20920467;20596615;20799954;11344127;20587610;21170030;21461859;21044884;21335558;20884741;21551363;21139048;21906983;12065315;21900206;22077590;22223527;22374871;22380734;22421314;23284937;23335507;23519472;21963094;22939624;23382212;22752569;23307244;23455636;22057045 780 A2ABL0;A2ABL2;A2ABM8;B7Z3A2;B8JJ50;B8JJ51;D6R9C4;D6RAJ3;D6RB35;D6RB82;D6RBU7;D6RGW5;E7EN94;E7ENJ2;E7EPH4;E7EPN2;E7EQ23;E7EQ30;E7ERI6;E7ERN0;E7ES06;E7ESR9;E7ETI3;E7ETX3;E7EUD5;E7EUP7;E7EVT1;E7EVW6;E7EX99;E7EXB0;H0Y717;H0Y9F4;H0YAH6;Q5ST11;Q6ZNR9;Q96T61;Q96T62 AB088102;AB103608;AB202100;AB210021;ABBA01038067;AF353182;AF353183;AK130776;AK291621;AK294793;AK295643;AL662854;AL662870;AL773541;AL773589;AL805917;AMYH01016207;BA000025;BC008716;BC013400;BC070070;BI193181;BM875592;BX927194;CH471081;CN362335;CR753093;CR759747;CR936875;CR936908;CR942271;DC369107;EU826613;EU826614;L11315;L20817;L57508;NG_029066;NM_001202521;NM_001202522;NM_001202523;NM_001954;NM_013993;NM_013994;U48705;X74979;X98208;X99031;Z29093 AAA02866;AAA18019;AAB05208;AAC50917;AAH08716;AAH13400;AAH70070;AAK48842;AAK48843;ACF47649;ACF47650;BAB63318;BAC54935;BAC85426;BAE06103;BAE78621;BAF31270;BAF84310;BAH11886;BAH12138;CAA52915;CAA66871;CAA82335;EAX03335;EAX03336;EAX03337;EAX03338;EAX03339;EAX03340;EAX03341;EAX03342;EAX03343;EAX03344;EAX03345;EAX03346;NP_001189450;NP_001189451;NP_001189452;NP_001945;NP_054699;NP_054700;Q08345 Hs.631988 1653921;1660076;1745103;1790827;2116470;2127915;2161297;2180341;2180343;2189609;2220212 C4_2_7;D6S1851;D6S2203;D6S2699;D6S2825;GDB:594103;RH11020;RH18132;RH46779;RH70253;WI-18751 CAK;CD167;DDR;EDDR1;HGK2;MCK10;NEP;NTRK4;PTK3;PTK3A;RTK6;TRKE CD167 antigen-like family member A;OTTHUMP00000029343;OTTHUMP00000029344;OTTHUMP00000029345;OTTHUMP00000029346;OTTHUMP00000029347;OTTHUMP00000164863;OTTHUMP00000164867;OTTHUMP00000222080;PTK3A protein tyrosine kinase 3A;cell adhesion kinase;epithelial discoidin domain-containing receptor 1;mammary carcinoma kinase 10;neuroepithelial tyrosine kinase;neurotrophic tyrosine kinase, receptor, type 4;protein-tyrosine kinase RTK-6;tyrosine kinase DDR;tyrosine-protein kinase CAK APPROVED protein-coding ENSG00000204580 2730 02678 600408 REVIEWED 6770605 DDX11-AS1 DDX11 antisense RNA 1 12 31173697 31226781 - 14702039 100506660 ABBA01068091;AC008013;AI927673;AK096360;AMYH01004362;AMYH01004363;NR_038927 Hs.586774 1338078;1667061;1733614;1754299;1759617 D12S1432;D12S1648;D12S921;SHGC-132314;SHGC-150876 APPROVED miscrna ENSG00000245614 44176 VALIDATED 1319052 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008] 1 1 1 p36.1 19304032 19313806 - 20850847 20860624 - 20978260 20988037 - 727247;1580863;6480464;6907045 9367678 9642163;17353931;15835887;19343046;15489334;15342556;15289604;12477932;10080935;7788527;7625827;16712791;20562859;19615732;19955485;20490454;17314412;22939629;23464991;16196087;19167051;20301507;21857022;21139048;21890473;21906983;21081666;21900206;21903422;22305527;19738201;19805454;21988832;22053931;22304920;23000965;22266900;22268729;22797925 1650 E7EWT1;P39656 AB062391;ABBA01059790;AK296041;AK297009;AK315633;AL391357;AMYH01000322;BC002594;BP233191;CB137813;CB988524;CH471134;D29643;D89060;NG_032064;NM_005216 AAH02594;ABM82853;ABM86040;BAA06126;BAA23670;BAB93478;BAG38001;BAG58805;BAG59544;EAW94936;EAW94937;EAW94938;EAW94939;EAW94940;NP_005207;P39656 Hs.523145 1685582;2150154;2179622;2189475;5022578 D1S1423;D1S3535;MARC_7133-7134:992008247:1;RH25339;RH68262 AGE-R1;AGER1;CDG1R;KIAA0115;MGC2191;OK/SW-cl.45;OKSWcl45;OST;OST48;WBP1 DDOST 48 kDa subunit;OTTHUMP00000002882;advanced glycation endproduct receptor 1;dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit;dolichyl-diphosphooligosaccharide-protein glycosyltransferase;dolichyl-diphosphooligosaccharide-protein glycotransferase;oligosaccharyl transferase 48 kDa subunit;oligosaccharyltransferase 48 kDa subunit;oligosaccharyltransferase subunit 48 APPROVED protein-coding ENSG00000244038 2728 03728 602202;614507 REVIEWED 1320614 DDRGK1 DDRGK domain containing 1 20 20 20 p13 3232967 3247257 - 3119012 3133295 - 3171012 3185295 - 6480464 20036718;17353931;15489334;12477932;11780052;21494687;17207965;20018847;20228063;20637204;21659334;21832049;22939629;21139048 65992 Q96HY6 ABBA01053815;AF086090;AK310809;AL109976;AL121891;AMYH01011673;BC000643;BC007957;BC011851;CH471133;NM_023935 AAH00643;AAH07957;AAH11851;ADQ32742;EAX10543;EAX10544;NP_076424;Q96HY6 Hs.471975 1336810;1759033;2127554;2159445;7187429 D20S181;RH41819;SHGC-151032;STS-W72684 C20orf116;MGC2592;UFBP1;dJ1187M17.3 DDRGK domain-containing protein 1;Dashurin;OTTHUMP00000030087;OTTHUMP00000030088;UFM1-binding protein 1 containing a PCI domain protein-coding ENSG00000198171 16110 12741 PROVISIONAL 1353019 DDX11L10 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10 16 p13.3 61555 64090 + 19476624 100287029 AM992876;AMYH01006980;NR_045117;Z84812 CAQ52938 Hs.592089 2046578;2046582;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;REN94411;REN94414 DDX11L1;DDX11P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 pseudogene;DEAD/H box polypeptide 11 like 10 APPROVED pseudo 14125 PROVISIONAL 1353002 DDT D-dopachrome tautomerase D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008] 22 22 22 q11.23 8114132 8122585 - 22643554 22652019 - 24313554 24322019 - 1580863;6480464 9480844;17353931;18684922;15489334;15461802;12823441;12665801;12477932;11997397;10591208;10079069;9729470;9716662;8267597;1286669;19913121;20628086;21071513;21817065;22428043;21890473;22001757 1652 B5MC82;B7Z522;H7C342;J3KQ18;P30046;Q53Y51 ABBA01055124;AF012434;AF058293;AK292044;AMYH01012652;AMYH01012653;AMYH01012654;AMYH01012655;AMYH01012656;AP000351;BC005971;BC015508;BT006970;CA414359;CH471095;CR456431;NM_001084392;NM_001355;U49785;U84143;Y11151 AAB41503;AAB48546;AAC13717;AAC77468;AAH05971;AAH15508;AAP35616;ABM82497;ABM85691;BAF84733;CAA72037;CAG30317;CAK54422;CAK54721;EAW59622;EAW59623;NP_001077861;NP_001346;P30046 Hs.656723 1665532;1680669;1759939;2175253 D22S1558;RH69708;SHGC-170343;STS-U49785 DDCT;FLJ78842 D-dopachrome decarboxylase;OTTHUMP00000198527;OTTHUMP00000198528;OTTHUMP00000198529;phenylpyruvate tautomerase II APPROVED protein-coding ENSG00000099977 2732 04126 602750 REVIEWED 2859132 DDX11L3 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 3 15 q29 102516761 102519296 - 19476624 100302657 AM992865;AM992872 CAQ52928;CAQ52934 Hs.714157 5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 3;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 3;DEAD/H box polypeptide 11 like 3 APPROVED pseudo 37104 2859130 DDX11L4 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 4 6 p25.3 12613 14361 + 19476624 100337622 AM992866;AM992873 CAQ52929;CAQ52935 Hs.714157 1712126;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03742;G54113 APPROVED pseudo 37105 3129492 DDX11L5 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5 9 p24.3 11987 14525 + 19476624 100287596 AL928970;AM992874;AMYH01019166;NR_051986 CAQ52936 Hs.719844 1687457;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;RH26395 APPROVED pseudo 37106 VALIDATED 2902408 DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8 12 p13.33 91213 94659 + 19476624;16541075 100288406 A8MPP1 AC215219;NG_017127 A8MPP1 5024318;5105062 stSG608800;stSG608801 pseudo 37101 INFERRED 3003937 DDX11L8 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8 12 92146 93419 - 19476624 100302090 AC215219;NG_029416 5109822 DXS7062 APPROVED pseudo 37110 INFERRED 3231842 DDX11L1 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1 1 p36.33 11874 14409 + 12477932;19476624 100287102 AL627309;AM992871;AMYH01000002;BC032353;NR_046018 CAQ52933 Hs.714157 1712126;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;G54113 APPROVED pseudo 37102 VALIDATED 2816623 DDX11L16 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16 X;Y X;Y q28; Yq12 154908520 154911042 - 155255326 155257848 - 10655549;12477932;19476624 727856 AJ271736;AM992882;AMYH01023351;NG_006978 CAQ52944 Hs.740212 5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742 MGC75272 APPROVED pseudo 37115 INFERRED 2902394 DDX11L9 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 15 q26.3 102516761 102519296 - 19476624;12477932 100288486 AC140725;AM992875;AM992880;AMYH01006977;NR_034090;NR_051985 CAQ52937;CAQ52942 Hs.644359 1712126;2046580;5096865;5096883;5109822;5126616;7183835 D2S2623;DXS7062;ECD03348;ECD03742;G54113;REN94412 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 9;DEAD/H box polypeptide 11 like 9 APPROVED pseudo ENSG00000248472 37109 VALIDATED 1319083 DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008] 11 11 q22-q23 108041026 108316860 + 108535816 108811650 + 1580863;6480464 8660968;18029348;17081983;15635413;15489334;12477932;11790298;10830185;10655059;10222653;9199348;9166830;15380516;19332556;19615732;21145461;21832049;22360420;22586326;21139048;21890473;21906983 1662 E9PIF2;Q13206 AB001343;AB040537;AB209884;ABBA01039859;ABBA01039860;ABBA01039861;ABBA01039862;ABBA01039863;AK296752;AK315216;AMYH01004022;AMYH01004023;AP002453;AP003027;AP003387;BC049217;BC064921;BC091521;BC093654;BC093656;CH471065;NM_004398;U28042 AAC50823;AAH49217;AAH91521;AAH93654;AAH93656;BAA20386;BAB18536;BAD93121;BAG37650;BAG59335;EAW67122;EAW67123;EAW67124;NP_004389;Q13206 Hs.591931 1679752;1686616;1732227;1734064;1738109;1782320;1790253;2107999;5014051;5016478;5022200;5022463;5022578;5037552 D11S1818;D11S2180;D11S3735;D1S1423;D3S1673;D8S2278;D8S2279;DDX10_8293;GDB:434012;KS610;L18426;RH40438;RH80824;SHGC-142619 HRH-J8 DDX10-NUP98 fusion protein type 2;DEAD box protein 10;DEAD box-10;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase);OTTHUMP00000233389;OTTHUMP00000233390;probable ATP-dependent RNA helicase DDX10 APPROVED protein-coding ENSG00000178105 2735 03138 601235 REVIEWED 3423179 DDX11L2 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2 2 q13 114356605 114361294 - 12477932;14702039;16344560;19476624 84771 AI468499;AK057285;AK093685;AK123946;AL078621;AM992870;AMYH01010967;BC005070;NR_024004;NR_024005 CAQ52932 Hs.712940 5014301;5020533;5038242;5096865;5096883;5108834;5108836;5109822;5126616;7183835 D0S2577;D0S2578;D2S2623;DXS7062;ECD03348;ECD03742;REN94415;REN94416;stSG608802 FLJ41952;FLJ44010;MGC13005 APPROVED pseudo ENSG00000236397 37103 VALIDATED 737232 DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008] 2 2 p24 15649221 15688676 + 15731745 15771235 + 1580863;6480464 22544364;7689221;17220478;18809582;19240061;18710941;17611020;17380054;17380053;17028906;15635413;15588285;15567440;15489334;12477932;12183465;11790298;11598190;10834319;10319407;8135819;1552844;15892970;16354571;21145461;21319273;18335541;19058135;19398953;20573827;16159877;21832049;22863883;22939629;20499159;21763499;21697133;16335966;21252943;22051512;17314511;18029348;19135240;17620599;22446626;15161933;21081666;22079093;21628590;21139048;21890473;21963094;21946350;22479191;21907836;16230076;19738201;21988832;22623428;22751105;23000965;23284291;17661632;18508616;19149558;21358275;22053931;22174317 1653 A3RJH1;C9JLP0;Q92499 AB593031;AB593032;AB593033;AB593034;ABBA01015680;AC008278;AK297432;AK298212;AK298426;AK313933;AMYH01010132;AMYH01010133;BC012132;BC012739;BC053673;CH471053;DC360930;EF418570;EF418571;NM_004939;X70649 AAH12132;AAH53673;ABN70940;ABN70941;BAG36652;BAG59860;BAG60482;BAG60648;BAJ83985;BAJ83986;BAJ83987;BAJ83988;CAA49992;EAX00894;EAX00895;EAX00896;EAX00897;EAX00898;NP_004930;Q92499 Hs.440599 1645101;1854623;1854625;2108003 A006F40;DDX1_8292;G20773;WI-7414 DBP-RB;UKVH5d ATP-dependent RNA helicase DDX1;DEAD (Asp-Glu-Ala-Asp) box polypeptide 1;DEAD box polypeptide 1;DEAD box protein 1;DEAD box protein retinoblastoma;DEAD box-1;OTTHUMP00000115711 APPROVED protein-coding ENSG00000079785 2734 03158 601257 REVIEWED 1351654 DDX18P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1 14 14 14 q24.1 49614176 49616537 + 68619712 68622284 + 69550062 69552423 + 319099 ABBA01023681;AL391262;AMYH01005823;NG_002480 pseudo 20007 INFERRED 2289767 DDX18P3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 3 6 6 6 p22.3 19601218 19603583 - 18471627 18473633 - 18363327 18365692 - 442164 ABBA01022236;AL138725;AMYH01016124;NG_008706 KIAA0161 pseudo 33966 INFERRED 2293115 DDX18P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2 15 15 15 q22.2 37051522 37053732 - 57951000 57952986 - 60163542 60165752 - 651053 ABBA01038956;AC092079;AMYH01006688;NG_007648 1340187 D15S527 651053 pseudo 21432 INFERRED 2289753 DDX18P4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4 5 5 5 q15 93899121 93901691 + 98043006 98044971 + 98015006 98017575 + 402222 ABBA01069207;AC008522;AMYH01015493;NG_008705 pseudo 33967 INFERRED 2301490 DDX18P6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 6 10 10 10 q23.31 86559202 86563218 + 92802788 92804816 + 92812766 92816782 + 100131370 ABBA01021930;AL365434;AMYH01002938;NG_008704 1685834;1877916;1877924 REN9645;REN9649;RH26170 pseudo 31126 INFERRED 2289764 DDX18P5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5 11 11 11 q24.3 127332774 127335157 + 129670358 129672161 + 130164896 130167279 + 9847074 646378 ABBA01023035;AC019227;AMYH01004128;NG_008712 1737035 D11S2784 pseudo 33968 INFERRED 1315426 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 12 12 p11 31118046 31148992 + 31226779 31257725 + 6480464;7240710 9013641;18499658;17189189;17105772;15520935;15489334;14702039;12477932;10648783;8833153;8798685;8530100;16169070;20124417;21489590;21854770;21139048;21906983;22102414;21890473;21963094;21987572;23033317;19884766;22505724;22678773;23116066 1663 B4DMS8;C9K0E8;F5GXJ8;F5GXL6;F5GYY1;F5H235;F5H2V9;F6WZM0;H0YFY8;H0YGL4;H0YGX9;Q2NKM7;Q96FC9;R4GNE1 ABBA01068091;ABBA01068092;AC008013;AK021703;AK297607;AK303139;AMYH01004363;AMYH01004364;BC001591;BC011264;BC012834;BC047317;BC050069;BC050522;BC111733;BC148224;CH471116;NG_023352;NM_001257144;NM_001257145;NM_004399;NM_030653;NM_152438;U33833;U35241;U75967;U75968;U75969;X99583 AAA99060;AAB06962;AAB18749;AAB18750;AAB18751;AAH50069;AAH50522;AAI11734;BAG59990;BAG64243;CAA67895;EAW88576;EAW88577;EAW88578;EAW88579;EAW88580;EAW88581;EAW88582;EAW88583;NP_001244073;NP_001244074;NP_004390;NP_085911;NP_689651;Q96FC9 Hs.443960 5096865;5124928;5124962 ECD03348;RH65252;RH80562 CHL1;CHLR1;KRG2;MGC133249;MGC9335;WABS CHL1-like helicase homolog;CHL1-related helicase gene-1;CHL1-related protein 1;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae);DEAD/H box protein 11;KRG-2;OTTHUMP00000238778;OTTHUMP00000238780;OTTHUMP00000238784;OTTHUMP00000238785;hCHLR1;keratinocyte growth factor-regulated gene 2 protein;probable ATP-dependent RNA helicase DDX11 APPROVED protein-coding ENSG00000013573 2736 03095 601150;613398 REVIEWED 7175934 DDX20P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 pseudogene 1 10 193770 194736 - 100421369 ABBA01035278;AL713922;AMYH01001961;NG_025412;NG_029960 pseudo 44673 INFERRED 1352632 DDX12P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene 12 12 12 p13.31 10974081 11004481 + 9461554 9492092 - 9570287 9600768 - 1580863 15252450;12477932;9013641;8833153;21890473;21906983;21987572 440081 Q92771 ABBA01012265;AC092821;AC141557;AMYH01004250;AMYH01004251;AMYH01004252;BC035635;BC065494;DQ786301;NR_033399;U33834 AAB06963;Q92771 Hs.447869;Hs.504688 5096865;5124928;5124962 ECD03348;RH65252;RH80562 CHLR2;DDX12 APPROVED pseudo ENSG00000214826 2737 601151 VALIDATED 1349788 DDX19A DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A 16 16 16 q22.1 55120903 55147361 - 68938325 68964785 + 70380824 70407284 + 737633;1580863;6480464 12477932 16189514;15489334;14702039;22863883;22990118;22939629;21139048;21549307;21906983 55308 B4DRZ7;H3BP36;H3BP50;H3BSL8;H3BTB3;I3L0H8;I3L352;J3QRH0;Q9NUU7 AB209401;ABBA01010668;ABBA01010669;AC012184;AK001988;AK094061;AK125701;AK223262;AK299504;AK299539;AK310604;AK310804;AK310808;AL832901;AL832970;AMYH01007784;BC005162;BC006544;BC025771;BC137496;BC137497;CH471241;CR749227;NM_018332 AAH05162;AAH06544;AAI37497;AAI37498;ADZ15486;BAA92022;BAD92638;BAD96982;BAG61459;BAG61486;CAH10622;CAH10629;CAH18083;EAW51826;NP_060802;Q9NUU7 Hs.656037 1644089;1683114;2173723;2174255;5015879;5015961;5020740;5022322;5022651;5037552 A004G36;D11S2560;D11S2921;D15S1477;D8S2279;GDB:314949;L17809;RH64883;SHGC-60774;STS-H42142 DDX19-DDX19L;DDX19L;DKFZp686C21137;FLJ11126 ATP-dependent RNA helicase DDX19A;DDX19-like protein;DEAD (Asp-Glu-Ala-As) box polypeptide 19A;DEAD box protein 19A;OTTHUMP00000174903;RNA helicase APPROVED protein-coding ENSG00000168872 25628 07732;18679 PROVISIONAL 1312679 DDX17 DEAD (Asp-Glu-Ala-Asp) box helicase 17 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011] 22 22 q13.1 37209389 37232291 - 38879443 38902345 - 1580863;6480464 8871553;18005418;17699760;17226766;16964243;16344560;16189514;17332742;15489334;15461802;15635413;15342556;15324660;15298701;14559993;12477932;12193588;12138182;11675387;11250900;10591208;9747670;9110174;8619474;12738788;12171929;12595555;19995069;21145461;21319273;20663877;10837141;17643375;18334637;19059367;19718048;19902070;20085707;16055720;19394292;21832049;22266867;22939629;23022728;21182205;22863883;23022380;20508642;16196087;17765891;19928837;20080577;21907836;20639865;21942715;21987572;16009940;19322201;21628590;21679440;21252943;15848144;17011493;18457437;19596686;20360068;21081666;21139048;21549307;21890473;21906983;19531213;22354994;22446626;21900255;23084401;22174317;22505724;22944692 10521 C9JMU5;G5E9L5;H3BLZ8;Q59F66;Q92841 AA765457;AB209595;ABBA01055520;AF131750;AK024985;AK074224;AK303049;AL080113;AL713763;AMYH01012764;AU130891;BC000595;BC029553;BC045747;BI545691;BP353248;CB215934;CH471095;CR456432;NG_029642;NM_001098504;NM_006386;U59321;Z97056 AAC50787;AAD20033;AAH00595;BAD92832;BAG64169;CAG30318;CAH10627;CAK54423;CAK54722;EAW60241;EAW60242;EAW60243;EAW60244;EAW60245;EAW60246;EAW60247;EAW60248;NP_001091974;NP_006377;Q92841 Hs.705517;Hs.706116 1648103;1655266;1658183;1677654;1684321;1787858;2120896;2128524;2137241;2148806;2151501;2158389;2170828;2177765;2184974;2186727;2186729;5017861;7190091;7190095 1574;A004C33;A005Q45;A007C15;D22S1199;D22S1255;D22S292E;D22S314E;D22S996E;DDX17;G20426;G29202;RH28487;RH76347;SHGC-132664;SHGC-37043;STS-N22684;STS-W80852 DKFZp761H2016;P72;RH70 DEAD (Asp-Glu-Ala-Asp) box polypeptide 17;DEAD box protein 17;DEAD box protein p72;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD);DEAD/H box 17;OTTHUMP00000199223;OTTHUMP00000199224;OTTHUMP00000199226;RNA-dependent helicase p72;probable ATP-dependent RNA helicase DDX17 APPROVED protein-coding ENSG00000100201 2740 10532 608469 REVIEWED 1346558 DDX19B DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55160454 55195108 - 68890573 68925232 + 70323670 70367735 + 1580863;6480464 12477932;8125298;10428971;17353931;19244245;19219046;15489334;14702039;11256614;12219940;11230166;21145461;16169070;1424986;19615732;17207965;20098747;19454010;21832049;22064466;22863883;21044950;21139048;21890473;21906983 11269 B4DL69;H3BMQ5;H3BMV7;H3BPV3;H3BQK0;H3BTX1;H3BUH0;Q9UMR2 ABBA01010670;ABBA01010671;AC012184;AF353720;AJ237946;AK027378;AK223115;AK296868;AK301938;AK302107;AK316346;AL136639;AMYH01007784;BC003626;BC010008;BC110805;BI756088;CH471241;CR457215;CR533509;DC385044;NM_001014449;NM_001014451;NM_001257172;NM_001257173;NM_001257174;NM_001257175;NM_007242 AAH03626;AAH10008;AAI10806;AAK40102;ACE86563;ACE87245;ADQ32729;BAD96835;BAG51311;BAG59431;BAG63358;BAG63488;BAH14717;CAB52189;CAB66574;CAG33496;CAG38540;EAW51827;EAW51831;EAW51832;EAW51833;EAW51834;EAW51837;NP_001014449;NP_001014451;NP_001244101;NP_001244102;NP_001244103;NP_001244104;NP_009173;Q9UMR2 Hs.221761 1644089;1645502;1847263;2108001;2132999 DDX19_9251;G22257;RH48691;SHGC-53094;SHGC-60774 DBP5;DDX19;RNAh ATP-dependent RNA helicase DDX19;ATP-dependent RNA helicase DDX19B;DEAD (Asp-Glu-Ala-As) box polypeptide 19B;DEAD box RNA helicase DEAD5;DEAD box protein 19B;DEAD-box RNA helicase DEAD5;DEAD-box protein 5;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog);OTTHUMP00000174901;dead (asp-glu-ala-as) box polypeptide 19;yeast Dbp5 homolog APPROVED protein-coding ENSG00000157349 2742 05781 605812 REVIEWED 1348568 DDX18 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008] 2 2 2 q14.1 111899413 111917115 + 118288725 118306423 + 118572255 118589953 + 1580863;6480464 14702039;21145461;8861962;18351129;15489334;12665801;12477932;20689807;16169070;19454010;16963496;21182205;21832049;22939629;22990118;16196087;21653321;22586326;22178446;19471022;21139048;21693764;21890473;21906983;21252943;19322201;21628590;22505724;22797925;22944692 8886 H7C452;Q8N254;Q9NVP1 AB209392;ABBA01045947;AC009312;AC009404;AK001467;AK091227;AMYH01010984;BC001238;BC003360;BC024739;BU599536;BX538334;CH471103;CR457060;NM_006773;X98743 AAH01238;AAH03360;AAH24739;AAX88947;AAY14819;BAA91709;BAC03616;BAD92629;CAA67295;CAG33341;EAW95192;EAW95193;EAW95194;NP_006764;Q9NVP1 Hs.363492 1647759;1652263;1676121;1680719;1685834;1719339;1736520;1803018;1805800;1805960;1807634;1807838;1808052;1808340;1811550;1814218;1814934;1814936;1818388;1818506;1819266;1821080;1823542;1825614;1829852;1833326;1836720;1839318;1840214;1845278;1877760;1877762;1877764;1877766;1877768;1877770;1877772;1877774;1877776;1877778;1877780;1877782;1877784;1877786;1877788;1877790;1877792;1877794;1877796;1877798;1877800;1877802;1877804;1877806;1877808;1877810;1877812;1877814;1877816;1877818;1877820;1877822;1877824;1877826;1877828;1877830;1877832;1877834;1877836;1877838;1877840;1877842;1877844;1877846;1877848;1877850;1877852;1877854;1877856;1877858;1877860;1877862;1877864;1877866;1877868;1877870;1877872;1877874;1877876;1877878;1877880;1877882;1877884;1877886;1877888;1877890;1877892;1877894;1877896;1877898;1877900;1877902;1877904;1877906;1877908;1877910;1877912;1877914;1877916;1877918;1877920;1877922;1877924;1877926;1877928;1877930;1877932;1877934;1877936;1877938;1877940;1877986;1877988;2199610;2199612;2199614;2199616;2199618;2199620;2199622;2199624;2199626;2199628;2199630;2199632;2199634;2199636;2199638;5014203;5015607;5022637 D11S2766;D11S3014;D15S727E;D2S2916;ECD02400;ECD03851;ECD03933;ECD04789;ECD04894;ECD05004;ECD05151;ECD06778;ECD08138;ECD08498;ECD08499;ECD10252;ECD10315;ECD10700;ECD11617;ECD12862;ECD13915;ECD16059;ECD17806;ECD19524;ECD20840;ECD21291;ECD23856;HSC0WF082;REN9566;REN9567;REN9568;REN9569;REN9570;REN9571;REN9572;REN9573;REN9574;REN9575;REN9576;REN9577;REN9578;REN9579;REN9580;REN9581;REN9582;REN9583;REN9584;REN9585;REN9586;REN9587;REN9588;REN9589;REN9590;REN9591;REN9592;REN9593;REN9594;REN9595;REN9596;REN9597;REN9598;REN9599;REN9600;REN9601;REN9602;REN9603;REN9604;REN9605;REN9606;REN9607;REN9608;REN9609;REN9610;REN9611;REN9612;REN9613;REN9614;REN9615;REN9616;REN9617;REN9618;REN9619;REN9620;REN9621;REN9622;REN9623;REN9624;REN9625;REN9626;REN9627;REN9628;REN9629;REN9630;REN9631;REN9632;REN9633;REN9634;REN9635;REN9636;REN9637;REN9638;REN9639;REN9640;REN9641;REN9642;REN9643;REN9644;REN9645;REN9646;REN9647;REN9648;REN9649;REN9650;REN9651;REN9652;REN9653;REN9654;REN9655;REN9656;REN9657;REN9680;REN9681;RH123396;RH26170;RH45043;RH66524;stSG618868;stSG618869;stSG618870;stSG618871;stSG618872;stSG618873;stSG618874;stSG618875;stSG618877;stSG618878;stSG618879;stSG618880;stSG618881;stSG618882;stSG618883 FLJ33908;MrDb ATP-dependent RNA helicase DDX18;DEAD box protein 18;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated);Myc-regulated DEAD box protein;OTTHUMP00000064465 APPROVED protein-coding ENSG00000088205 2741 05894 606355 REVIEWED 1312763 DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008] 10 10 q21 70385898 70414285 + 70715879 70744825 + 1580863;6480464 21319273;21145461;8614622;17353931;18180292;17081983;16565220;16045751;15635413;15489334;15302935;15164054;14559904;12477932;11891046;11823437;11790298;11237763;10860663;9177271;20431927;20873769;16385451;19710015;20800221;16159877;19394292;19454010;21385873;20462248;23145133;23184937;15367657;21182205;22939629;18029348;21252943;12777385;15840729;15848144;18781797;19596686;20360068;21726808;22108332;22178446;21907836;21044950;21628590;21139048;21890473;22446626;22586326;22952844 9188 Q3SWU7;Q9NR30 AA446317;AB062394;ABBA01019594;ABBA01019595;AF261902;AF261903;AF261904;AF261905;AF261906;AF261907;AF261908;AF261909;AF261910;AF261911;AF261912;AF261913;AF261914;AF261915;AF261916;AF261917;AK025629;AK315585;AL359844;AMYH01002805;BC004182;BC008071;BC009432;BC017228;BC104671;BU963561;BX648405;CH471083;CR749598;DW408689;NM_001256910;NM_004728;U41387 AAB02546;AAF78930;AAH08071;AAI04672;ABM84557;ABM87851;BAB93481;BAG37957;CAH18395;EAW54305;EAW54306;EAW54307;NP_001243839;NP_004719;Q9NR30 Hs.223141 1646714;1682589;1689334;1712142;2118381;2219074;5126861 DDX21__4686;G54121;RH11523;RH44177;RH44765;RH70628;RH93328 DKFZp686F21172;GUA;GURDB;RH-II/GU;RH-II/GuA DEAD (Asp-Glu-Ala-Asp) box polypeptide 21;DEAD box protein 21;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21;Gu protein;OTTHUMP00000019713;RH II/Gu;RNA helicase II/Gu alpha;gu-alpha;nucleolar RNA helicase 2;nucleolar RNA helicase Gu;nucleolar RNA helicase II APPROVED protein-coding ENSG00000165732 2744 05895 606357 REVIEWED 6481206 DDX26B-AS1 DDX26B antisense RNA 1 100874118 AL357834 APPROVED miscrna 41180 1318600 DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q13.12 48019665 48042067 - 47509806 47532224 - 49223539 49245957 - 6480464;6907045 9409622;11971955;9774689;17353931;9539711;12226669;18425142;17081983;15635413;15489334;12477932;12090300;11991638;18954305;20308539;17643375;19615732;16055720;22939629;22990118;12840015;18029348;22446626;22586326;17332742;15848144;19596686;20360068;19471022;21139048;21890473;21252943;21926972;21044950 9416 B3KY11;B4DH15;F8VVA2;F8W1J5;H0YI52;H0YIL9;Q9BUQ8 ABBA01031488;ABBA01031489;ABBA01031490;AC117498;AF026402;AK128428;AK292921;AK294877;AK312379;AMYH01004435;BC002366;CD709611;CH471111;NM_004818 AAB87902;AAH02366;ABM82351;ABM85525;BAF85610;BAG35297;BAG54673;BAG57976;EAW58010;EAW58011;EAW58012;EAW58013;EAW58014;EAW58015;EAW58016;EAW58017;NP_004809;Q9BUQ8 Hs.130098 2150383;5121301 D12S1952;RH68064 MGC8416;PRPF28;SNRNP100;U5-100K;U5-100KD;prp28 100 kDa U5 snRNP-specific protein;DEAD box protein 23;OTTHUMP00000243686;PRP28 homolog, yeast;PRP28p homolog;U5 snRNP 100 kD protein;probable ATP-dependent RNA helicase DDX23 APPROVED protein-coding ENSG00000174243 17347 09908 612172 REVIEWED 1320818 DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008] 1 1 p21.1-p13.2 112099777 112111722 + 112298190 112310199 + 1580863;6480464 10383418;10601333;10531003;19138993;18381463;16964243;16710414;16344560;16301532;15489334;15302935;14970384;14702039;14667819;12668731;12477932;12095920;12065586;12007404;11914277;11748230;11713266;11149922;10942426;10725331;9110174;8619474;11509230;17353931;11714716;21145461;20585341;20620147;14963109;15130578;18029348;19596235;20211803;20732906;20819778;20562859;20696395;20157854;21832049;22939629;22990118;23221635;17314511;19928837;19471022;22174681;21081666;21800163;22118674;21139048;21693764;21890473;21963094;22445758;22354994;22586326;22898998;21300694;16153597;23246001;23455922;23752268;22190034;22335944;22505724;22797925 11218 B4DWV7;E9PJ60;Q9H4N4;Q9UHI6 ABBA01068399;AF106019;AF155803;AF171063;AK001506;AK301697;AK314312;AL049557;AL133598;AMYH01000947;AY007146;BC011556;BC031062;BC034953;CH471122;DB072947;NM_007204 AAD42744;AAF14544;AAG02003;AAH11556;AAH31062;AAH34953;AAK56799;ABM83175;ABM86375;BAA91727;BAG63169;CAB63734;EAW56507;EAW56508;NP_009135;Q9UHI6 Hs.591405 2126328;2144863 SHGC-31883;WI-19890 DKFZp434H052;DP103;GEMIN3 DEAD box protein 20;DEAD box protein DP 103;DEAD-box protein DP103;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD;OTTHUMP00000013738;SMN-interacting protein;component of gems 3;gemin-3;probable ATP-dependent RNA helicase DDX20 APPROVED protein-coding ENSG00000064703 2743 05859 606168 REVIEWED 1353633 DDX25 DEAD (Asp-Glu-Ala-Asp) box helicase 25 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008] 11 11 11 q24 122934293 122953028 + 125279613 125298215 + 125774261 125793005 + 68232;1580863;6480464 10608860 17889551;17848414;16293649;15489334;15094194;12477932;19536092;19875492;20378615;15096601 29118 E9PR46;H0YD26;J3QL17;J3QRJ6;Q9UHL0 ABBA01031233;AF155140;AK295121;AK312772;AMYH01004109;AP000842;AY735312;BC031098;BC035388;BC050360;CD359894;CD657404;CH471065;DC395868;NM_013264 AAF21371;AAH35388;AAH50360;AAU84667;BAG35637;BAG58148;EAW67668;EAW67669;NP_037396;Q9UHL0 Hs.420263 GRTH ATP-dependent RNA helicase DDX25;DEAD (Asp-Glu-Ala-Asp) box polypeptide 25;DEAD box protein 25;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25;OTTHUMP00000231322;OTTHUMP00000231323;gonadotropin-regulated testicular RNA helicase APPROVED protein-coding ENSG00000109832 18698 06367 607663 REVIEWED 5129005 DDX39AP1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A pseudogene 1 13 13 13 q12.11 4339209 4342674 - 22174879 22178344 - 23276879 23280344 - 646164 ABBA01068625;AL354828;AMYH01004965;NG_011331 pseudo 39664 INFERRED 4892545 DDX39BP1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 1 6 p21.3 29874324 29875226 + 100048904 ABBA01038039;AL645935;AL845454;AL928614;AMYH01016204;BX284699;BX927141;CR388220;CR759913;CT009517;NG_028140 BAT1P1 pseudo 33450 INFERRED 1343446 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B X X X q26.3 135038518 135100404 + 134482250 134544100 + 134654555 134716460 + 6480464 16344560;15772651;15146197;14702039;12477932;20936779;20133760;17043677;21890473 203522 Q5JSJ4;Q8N8M2 ABBA01050077;ABBA01050078;ABBA01050079;ABBA01050080;ABBA01050081;ABBA01050082;ABBA01050083;ABBA01050084;ABBA01050085;ABBA01050086;ABBA01050087;AI187071;AK096544;AK123209;AK126202;AK308423;AL357834;AL391380;AL833319;AMYH01023015;BC140715;BM455073;BQ044923;BX648113;CH471107;CN343659;CR936620;DB231166;NM_182540 AAI40716;BAC04813;BAC85559;CAI56763;EAX11725;EAX11726;EAX11727;NP_872346;Q5JSJ4 Hs.496829 1679149;1702844;1738999 DXS7426;DXS912;RH81012 DKFZp686G0470;FLJ41215;MGC88298 OTTHUMP00000024075;protein DDX26B protein-coding ENSG00000165359 27334 06618 VALIDATED 1353174 DDX24 DEAD (Asp-Glu-Ala-Asp) box helicase 24 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008] 14 14 14 q32 74571013 74601331 - 93587021 93617311 - 94517268 94547558 - 1580863;6480464 10936056;18029348;11256614;18289627;17081983;16964243;16381901;16169070;16051665;15635413;15489336;15489334;15302935;15014966;14702039;12477932;11230166;11076863;18954305;17353931;21252943;21044950;15561718;21145461;19615732;20237496;16226712;19454010;22990118;22939629;21139048;21890473;21906983;19596686;22586326;21988832;22113938;22751105;23455922;22174317;22505724 57062 F5GYL3;G3V529;Q9GZR7 AB209382;ABBA01030421;ABBA01030422;ABBA01030423;AF134475;AF145022;AF161446;AF214731;AK025162;AK294613;AK296726;AK297232;AK304504;AL079302;AL136886;AMYH01005968;BC000778;BC008847;BC009406;BC096826;BX537533;CH471061;NM_020414 AAF29006;AAG02169;AAH08847;AAH09406;AAH96826;AAP97252;AAP97274;ABM84449;ABM87509;BAB15079;BAD92619;BAG57797;BAG59314;BAG59715;BAG65312;CAB66820;CAL38415;EAW81550;EAW81551;EAW81552;NP_065147;Q9GZR7 Hs.510328 1652304;1736382;1736392;1736446;1739145;1851893;1857179;2114496;2146018;2149352;2153259 A002F39;D14S638E;D14S652E;D14S667E;D14S708E;D14S798;D14S832;D14S900;RH1626;RH46093;SGC34995 ATP-dependent RNA helicase DDX24;DEAD box protein 24;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24;OTTHUMP00000245764;OTTHUMP00000245765;OTTHUMP00000245766;S. cerevisiae CHL1-like helicase APPROVED protein-coding ENSG00000089737 13266 05860 606181 REVIEWED 4892544 DDX39BP2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 2 6 p21.33 29960986 29961910 + 100048923 ABBA01038041;AL645935;AL671277;AL845454;AMYH01016204;BX005091;BX927229;CR388205;CR759763;CR759943;NG_028139 BAT1P2;BPG309N1.15 pseudo 33461 INFERRED 1312596 DDX31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 9 9 9 q34.13 106011427 106087527 - 134459497 134535609 - 135469676 135545788 - 6480464 21145461;15635413;15489334;15164053;14702039;12782131;12477932;12429849;8125298;22939629;22586326;21139048;23019224 64794 B4E3G7;F8WAJ0;Q96SX5 ABBA01032483;ABBA01032484;AF335567;AF335568;AF335569;AF427339;AK023695;AK027002;AK027484;AK225121;AK225350;AK302670;AK304715;AL160165;AL354735;AMYH01021792;BC012726;CH471090;HH961794;NM_022779;NM_138620 AAH12726;AAI56833;AAL26549;AAQ14888;AAQ14889;AAQ14890;BAB14644;BAB15620;BAB55146;BAG63903;BAG65479;CBX51370;EAW88006;EAW88007;EAW88008;EAW88009;NP_073616;NP_619526;Q9H8H2 Hs.660767 1653331;1674926;1721057;1767912;1854403;2112012;2218470 A009E13;D9S2127;DDX31_4688;G59510;RH48740;WI-16882;WI-20657 FLJ13633;FLJ14578;FLJ23349;PPP1R25 DEAD box protein 31;DEAD/DEXH helicase DDX31;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31;G2 helicase;OTTHUMP00000022436;OTTHUMP00000022437;OTTHUMP00000022438;helicain;probable ATP-dependent RNA helicase DDX31;protein phosphatase 1, regulatory subunit 25 APPROVED protein-coding ENSG00000125485 16715 10860 REVIEWED 5133406 DDX3YP1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 1 X X X q13.2 73624319 73635232 + 73257421 73268503 + 73340847 73351760 + 100133180 AL359740;AMYH01022611;NG_022674 pseudo 42171 INFERRED 6480925 DDX3YP2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 2 X 73352839 73352949 - 100874489 AL359740;AMYH01022611;NG_032456 pseudo 42172 INFERRED 1313779 DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, the function of which has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 44540460 44565227 + 47269291 47294021 + 47835832 47860614 + 1580863;6480464 17353931;15635413;15498874;15489334;14702039;12477932;11790298;11780052;8889548;8125298;16169070;21628590;20936779;21182205;22939629;22178446;21139048;22586326 55661 Q3MI07;Q9BWY9 ABBA01052741;AF193054;AF336851;AK000603;AK022979;AK025891;AK127128;AK223116;AK300135;AL049766;AL357560;AL512707;AL832131;AMYH01011965;AY044431;BC009304;BC011927;BC016060;BC104480;BC126287;BC130275;BC144125;BF026095;BM970582;CH471077;DB442175;EU718675;NM_017895 AAG22482;AAH09304;AAH11927;AAH16060;AAI04481;AAI26288;AAI30276;AAI44126;AAK21271;AAK95821;ACD91989;ADR83262;ADR83300;BAA91284;BAB14343;BAD96836;BAH13221;EAW75665;EAW75666;EAW75667;EAW75668;NP_060365;Q96GQ7 Hs.65234 2174340;2188777;5014051;5015619;5016478;5037552 D11S3114;D8S2278;D8S2279;G66598;GDB:434012;WI-13369 DKFZp667N057;DRS1;Drs1p;FLJ12917;FLJ20596;FLJ22238;HSPC259;MGC1018;MGC163147;PP3241;RHLP;Rrp3p;dJ686N3.1 DEAD box protein 27;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27;Deficiency of ribosomal subunits protein 1 homolog;OTTHUMP00000031771;RNA helicase-like protein;probable ATP-dependent RNA helicase DDX27 APPROVED protein-coding ENSG00000124228 15837 10859 REVIEWED 5133408 DDX3YP3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 3 4 4 4 q24 101791322 101793751 + 104712275 104714704 + 104493246 104495231 + 650560 ABBA01063716;AC105460;AMYH01014435;NG_028846 pseudo 42173 INFERRED 1323712 DDX28 DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52563630 52566223 - 66612675 66615460 - 68055177 68057770 - 1580863;6480464 12663657;18063578;16344560;15489334;14702039;12477932;11350955;10493829;8889548;21145461;11256614;20877624;22939629;18029348;20186120;20360068;19531213;22446626 55794 Q9NUL7 ABBA01025471;AC130462;AF329821;AK002144;AMYH01007754;BC014517;BC024273;BM671594;CF993871;CH471092;DA159162;NM_018380 AAG59833;AAH24273;BAA92106;EAW83206;NP_060850;Q9NUL7 Hs.458313 1657189;2153778 Bdy91f03;SHGC-57903 FLJ11282;MDDX28 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28;OTTHUMP00000174854;mitochondrial DEAD box protein 28;mitochondrial DEAD-box polypeptide 28;probable ATP-dependent RNA helicase DDX28 APPROVED protein-coding ENSG00000182810 17330 06357 607618 REVIEWED 1350107 DDX39A DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Feb 2011] 19 19 19 p13.12 14413761 14424296 - 14380631 14391171 - 14519610 14530195 - 727748;1580863;6480464 7601445 15047853;17548965;17196963;16949217;15635413;15489334;15338056;14702039;14667819;12477932;11979277;11790298;16189514;20562859;19615732;20610707;16341674;16344560;20573985;22863883;20360068;21799930;21859714;19471022;21139048;21890473;21906983;19115949;23667531;18781797;21388492;21900206;21110914;21252943;22119546;21044950;22197932;21963094;22494014;23000965;22268729;22505724;22797925 10212 B1Q2N1;K7EIL8;K7EL56;K7EN25;K7EN69;K7ENP6;K7EPJ3;K7EQN7;O00148 AB254849;ABBA01029669;ABBA01029670;AC008569;AK293911;AK301847;AL512698;AMYH01009530;BC001009;BC010455;BC032128;BM792110;CH471106;DA432925;DB032777;NG_029055;NM_005804;NR_038336;NR_046366;U90426 AAB50231;AAH01009;AAH32128;ABM82313;ABM85489;BAG16272;BAG57295;BAG63290;CAH10601;EAW84414;EAW84415;EAW84416;EAW84417;EAW84418;NP_005795;O00148 Hs.311609 1661759;1769790;2175756 RH12356;RH79172;STS-X84700 BAT1;BAT1L;DDX39;DDXL;MGC18203;MGC8417;URH49 ATP-dependent RNA helicase DDX39;ATP-dependent RNA helicase DDX39A;DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 transcript;DEAD box protein 39;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39;UAP56-related helicase, 49 kDa;nuclear RNA helicase URH49;nuclear RNA helicase, DECD variant of DEAD box family APPROVED protein-coding ENSG00000123136 17821 10861 REVIEWED 1348882 DDX3Y DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it has a homolog on the X chromosome. The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting that this gene plays a key role in the spermatogenic process. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Y Y q11 13526171 13541784 + 15016019 15032390 + 1580863;6480464;6907045 18029348;18299450;17881721;15862967;15592455;15570572;15489334;15383328;15294876;15144186;15096539;12815422;12477932;11929796;11710523;11591417;10861003;9381176;10767340;22466863;17643375;16449650;21182205;20811636;21709606;20561090;21890473;21963094;23000965;21942715;21987572;22178446;20301513;21906983;23463506;18729074;22505724;22797925 8653 B4DXX7;B4E132;C9J081;C9J8G5;O15523 ABBA01065595;ABBA01065596;AC004474;AF000984;AF000985;AK296366;AK302172;AK303176;AK303638;AK307884;AK310382;BC011022;BC034942;CH471155;NG_012831;NM_001122665;NM_004660 AAC51831;AAC51832;AAH34942;BAG59041;BAG63539;BAG64272;BAG64644;EAW91610;EAW91611;NP_001116137;NP_004651;O15523 Hs.99120 1711870;1711872;1732469;1747135;1747137;1747139;1747141;1747143;1747145;1747147;1747149;1747151;1747153;1747155;1791151;1797222;1848303;2108005;2113590;2122518;2190423;2190425;2190427;2190429;2190431;2190433;2190435;2190437;2190439;2190441;2190443;2190445;2190447;2190451;2190467;5017991;5017993;5022837;5022839;5092364;5095217;5095219;5095221;5095223;5095225;5095227;5095229;5095231;5095233;5095235;5095237;5095239 DDX3Y;DDX3Y-1;DDX3Y-10;DDX3Y-11;DDX3Y-12;DDX3Y-13;DDX3Y-14;DDX3Y-15;DDX3Y-16;DDX3Y-17;DDX3Y-2;DDX3Y-3;DDX3Y-4;DDX3Y-5;DDX3Y-6;DDX3Y-7;DDX3Y-8;DDX3Y_8842;DYS66;G34990;G38346;G49468;G49469;G49470;G65234;G65235;G65236;G65237;G65238;G65239;G65240;G65242;G65243;G65244;G65245;M240;M241_M242;M243_M244;M245_M246;M247_M248;M249;M250;M251_M252;M253_M254;M255_M256_M257;M258;M259;M260;M261;M264;Y_M242;sY1234 DBY ATP-dependent RNA helicase DDX3Y;DEAD box protein 3, Y-chromosomal;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome;OTTHUMP00000034504;OTTHUMP00000034505 APPROVED protein-coding ENSG00000067048 2699 02452 400010 REVIEWED 737407 DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011] 6 6 p21.3 31605975 31618204 - 31497996 31510252 - 727748;1580863;6480464;6907045 7601445 14667819;15047853;19403039;19264631;19115949;18987644;18834321;18715507;18593880;18411249;18381799;18240960;17562711;17517687;16949217;16478985;16169070;16101831;15998806;15969671;15843211;15635413;15585580;15489334;15338056;15324660;15296731;15028669;14574404;14559993;12944400;12477932;11979277;11790298;11675789;11380625;11170743;10343160;9242493;8125298;8012384;2911734;2813433;14499622;19505873;21319273;19913121;20628086;15833825;15870275;17190602;18974867;19836239;19851445;20116367;20379614;20453000;20610707;20854863;20933106;16344560;19733147;20573985;20828777;20844015;20981025;21147923;22863883;22990118;17620012;21507964;16196087;21680511;22939629;20360068;21081666;21799930;21859714;22071774;22178446;21912425;22197932;22446327;21139048;21890473;21906983;21110914;19322201;21628590;15576338;19738201;21963094;22304920;22623428;23000965;23151878;22505724 7919 B4DIJ6;B4DP52;E7EMX2;F6QWI5;F6QYI9;F6R6M7;F6S2B7;F6S4E6;F6SXL5;F6TRA5;F6U6E2;F6UJC5;F6UN21;F6WLT2;F8VQ10;H0Y400;H0YCC6;Q5STU3;Q5STU8 AB088115;AB103621;AB202112;AB209217;ABBA01038080;ABBA01038081;AF029061;AF029062;AK127767;AK222912;AK294939;AK295634;AK295854;AK298194;AK316469;AL662801;AL662847;AMYH01016217;BA000025;BC000361;BC013006;BM993499;BT009909;BU628632;BX001040;BX248516;BX927320;CH471081;CR753820;CR753864;CT009531;DA048099;DA272922;NM_004640;NM_080598;NR_037852;Y14768;Z37166;Z60417 AAB94615;AAC63046;AAH00361;AAH13006;AAP88911;ABM82807;ABM85993;BAB63306;BAC54953;BAD92454;BAD96632;BAE78637;BAF31287;BAG58016;BAG58508;BAG58660;BAG60464;BAH14840;CAA75074;CAA85523;EAX03404;EAX03406;EAX03407;EAX03408;EAX03409;EAX03410;EAX03411;EAX03413;NP_004631;NP_542165;Q13838 Hs.254042;Hs.730849 1689300;1728965;1786110;5017795 CH241-100F12_SP6;D17H6S81E-1;RH1521;SHGC-172533 BAT1;D6S81E;UAP56 56 kDa U2AF65-associated protein;ATP-dependent RNA helicase p47;DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B;DEAD box protein UAP56;DEAD-box protein UAP56;HLA-B-associated transcript 1 protein;OTTHUMP00000029229;OTTHUMP00000029231;OTTHUMP00000165889;OTTHUMP00000165890;U2AF65-associated protein 56;hla-b-associated transcript 1a;nuclear RNA helicase (DEAD family);spliceosome RNA helicase BAT1;spliceosome RNA helicase DDX39B APPROVED protein-coding ENSG00000198563 13917 00805 142560 REVIEWED 1352934 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which interacts specifically with hepatitis C virus core protein resulting a change in intracellular location. This gene has a homolog located in the nonrecombining region of the Y chromosome. The protein sequence is 91% identical between this gene and the Y-linked homolog. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] X X p11.3-p11.23 41077595 41094471 + 41192651 41209527 + 1580863;6480464;6907045 9381176;18377426;10329544;18029348;18845156;18636090;18628297;18596238;18583960;18264132;17855521;17667941;17631897;17357160;16818630;16341674;16301996;16097034;16094384;15592455;15588285;15507209;15489334;14743216;14729942;12477932;11710523;10859333;9730595;16354571;15516266;17353931;14559993;10336476;20657822;16712791;20308691;11256614;19782656;19793905;20127681;20837705;16055720;16159877;19394292;19454010;20862261;21237216;23084401;21428961;21170385;21448281;20508642;20811636;21589879;21182205;22863883;21252943;15047060;19135240;21730191;15161933;21081666;21726808;21883093;21942715;21987572;22178446;17620599;20080577;22145905;21139048;21549307;21890473;21906983;22210892;22492871;15231748;19738201;19805454;21080425;21963094;22113938;22623428;22810585;23000965;23151878;23413191;23438482;21360055;17361185;17696464;18632687;18846110;19322201;21575865;15998806;21145461;21319273;22270009;22939629;17661632;18187620;18259889;18508616;18729074;19149558;19380743;21358275;21853274;22053931;22174317;22268729;22505724;22797925;22872150;23478265;22412018;23330003;23402259;23455922;23463506 1654 B4DLA0;B4E3C4;O00571 AB208983;AB451220;AB451343;ABBA01046690;ABBA01046691;ABBA01046692;ABBA01046693;AC073076;AF000982;AF000983;AF061337;AF086430;AI698207;AK127902;AK291153;AK296906;AK297159;AK304661;AK304689;AK310891;AL391647;AMYH01022230;AMYH01022231;AY776161;BC007668;BC011819;BC055083;BM454841;BM833870;CB107740;CH471141;NG_012830;NM_001193416;NM_001193417;NM_001356;U50553 AAB95637;AAC34298;AAC51829;AAC51830;AAH11819;AAV52794;BAD92220;BAF83842;BAG59462;BAG59657;BAG65436;BAG65460;BAG70034;BAG70157;EAW59402;EAW59403;EAW59404;EAW59405;NP_001180345;NP_001180346;NP_001347;O00571 Hs.743263 1712567;1748485;1797090;2131500;2132965;2155396;2157402;2190857;5017322;5022345;5092368 DBX;DDX3;DDX3X;DXS7525;G34988;G41926;G49473;RH78345;SHGC-33274;U42386;UniSTS:51773 DBX;DDX14;DDX3;HLP2 ATP-dependent RNA helicase DDX3X;CAP-Rf;DEAD box protein 3, X-chromosomal;DEAD box, X isoform;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3;DEAD/H box-3;OTTHUMP00000023143;helicase like protein 2;helicase-like protein 2 APPROVED protein-coding ENSG00000215301 2745 02154 300160 REVIEWED 1323380 DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171557772 171563161 + 176871184 176876573 - 176938578 176943967 - 1580863;6480464 21145461;17353931;10607561;17081983;16565220;15690390;15635413;15489334;15302935;14702039;12477932;11991638;8125298;17474147;18029348;19615732;23142775;21209461;21892174;21628590;20360068;21139048;21890473;21252943;22797925 51428 D6RD33;D6RGI7;H0Y8L8;H0YA06;J3KNN5;Q9UJV9 ABBA01033452;AC145098;AF195417;AK001255;AK026117;AK027768;AK091545;AK091774;AK092585;AK222598;AK310525;AK315491;AL137455;AMYH01015876;BC015476;BC067902;BX641072;CH471195;CQ859814;NM_016222 AAF04150;AAH15476;ADZ15529;BAA91585;BAB55355;BAD96318;BAG37875;BAG52414;CAB70746;CAE46035;CAH25957;EAW84977;EAW84978;EAW84979;EAW84980;EAW84981;NP_057306;Q9UJV9 Hs.484288 1645087;1853021;2119595;2191521 A002K19;G16059;MARC_24355-24356:1030120548:1;RH47489 ABS;MGC8828 2900024F02Rik;DEAD box protein 41;DEAD box protein abstrakt homolog;DEAD-box protein abstrakt;OTTHUMP00000161451;OTTHUMP00000223824;probable ATP-dependent RNA helicase DDX41;putative RNA helicase APPROVED protein-coding ENSG00000183258 18674 10490 608170 REVIEWED 1318770 DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 5 5 p15.2-p13.1 55070533 55148362 + 55033845 55112974 + 1580863;6480464 21145461;18805576;18534994;17486274;15489334;14736746;14702039;12477932;11850529;10920202;14648869;16344560;19629140;19937754;22162380;21987572;22288104;20561531;21628590;18729074 54514 D6RAF5;D6RAT7;D6RBL3;D6RCM4;D6RIB2;H0Y960;H0YBW0;Q9NYB1 ABBA01015750;ABBA01015751;AC016632;AC016639;AF262962;AK093439;AK292417;AK308300;AL137462;AMYH01015092;AY004154;BC030638;BC047455;BC088362;BI559479;CH471123;DB022413;DB051674;DB457419;DB508256;HC006904;NM_001142549;NM_001166533;NM_001166534;NM_024415 AAF72705;AAF86585;AAH47455;AAH88362;BAF85106;BAG52716;CAB70750;CBH19257;EAW54929;NP_001136021;NP_001160005;NP_001160006;NP_077726;Q9NQI0 Hs.223581 1688432;5022775 DDX4;RH92050 MGC111074;VASA DEAD box protein 4;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4;OTTHUMP00000122546;OTTHUMP00000221766;OTTHUMP00000221767;OTTHUMP00000221796;probable ATP-dependent RNA helicase DDX4;vasa homolog APPROVED protein-coding ENSG00000152670 18700 05593 605281 VALIDATED 1345973 DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008] 6 6 6 q12-q13 74498837 74521848 + 74161192 74183791 + 74104285 74127289 + 1580863;6480464 22563673;10919659;11256614;17487488;17296563;16381901;16344560;15489336;15489334;12890744;12477932;11230166;11076863;22393060;20058853;21832049;22040965 55510 B4E0C8;Q9NXZ2 ABBA01040316;AC019205;AJ278110;AK303324;AK313686;AL136751;AMYH01016425;BC056879;BC066938;BQ020439;BX646425;CH471051;DA453913;NM_018665 AAH66938;BAG36435;BAG64390;CAB66685;CAB92442;CAL38376;EAW48770;NP_061135;Q9NXZ2 Hs.125507 1752339;1801844;1804160;1809044;1810154;1812132;1815718;1816162;1817342;1821992;1826020;1827538;1833498;1834508;1835230;1836372;1836602;1837370;1837728;1839180;1840560;1842072;1844178;1845760;1923640;1923642;1923644;1923646;1923648;1923650;1923652;1923654;1923656;1923658;1923660;1923662;1923664;1923666;1923668;1923670;1923672;1923674;1923676;1923678;1923680;1923682;1923684;1923686;1923688;1923690;1923692;1923694;1923696;1923698;1923700;1923702;1923704;1923706;1923708;1923710;1923712;1923714;1923716;1923718;1923720;1923722;1923724;1923726;1923728;1923730;1923732;1923734;1923736;1923738;1923740;1923742;1923744;1923746;1923748;1923750;1923752;1923754;1923756;1923758;1923760;1923762;1923764;1923766;1923768;1923770;1923772;1923774;1923776;1923778;1923780;1923782;1923784;1923786;1923788;1923790;1923792;1923794;1923796;1923798;1923800;1923802;1923804;1923806;1923808;1923810;1923812;1923814;1923816;1923818;1923820;1923822;1923824;1923826;1923828;1923830;1923832;1923834;1923836;1923838;1923840;1923842;1923844;1923846;1923848;2207270;2207272;2207274;2207276;2207278;2207280;2207282;2207284;2207286;2207288;2207290;2207292;2207294;2207296;2207298;2207300;2207302;2207304;2207306;2207308 ECD01803;ECD03000;ECD05509;ECD06069;ECD07071;ECD08897;ECD09121;ECD09721;ECD12082;ECD14119;ECD14885;ECD17892;ECD18402;ECD18770;ECD19348;ECD19465;ECD19852;ECD20032;ECD20770;ECD21467;ECD22239;ECD23302;ECD24099;REN32644;REN32645;REN32646;REN32647;REN32648;REN32649;REN32650;REN32651;REN32652;REN32653;REN32654;REN32655;REN32656;REN32657;REN32658;REN32659;REN32660;REN32661;REN32662;REN32663;REN32664;REN32665;REN32666;REN32667;REN32668;REN32669;REN32670;REN32671;REN32672;REN32673;REN32674;REN32675;REN32676;REN32677;REN32678;REN32679;REN32680;REN32681;REN32682;REN32683;REN32684;REN32685;REN32686;REN32687;REN32688;REN32689;REN32690;REN32691;REN32692;REN32693;REN32694;REN32695;REN32696;REN32697;REN32698;REN32699;REN32700;REN32701;REN32702;REN32703;REN32704;REN32705;REN32706;REN32707;REN32708;REN32709;REN32710;REN32711;REN32712;REN32713;REN32714;REN32715;REN32716;REN32717;REN32718;REN32719;REN32720;REN32721;REN32722;REN32723;REN32724;REN32725;REN32726;REN32727;REN32728;REN32729;REN32730;REN32731;REN32732;REN32733;REN32734;REN32735;REN32736;REN32737;REN32738;REN32739;REN32740;REN32741;REN32742;REN32743;REN32744;REN32745;REN32746;REN32747;REN32748;SHGC-106295;stSG625863;stSG625864;stSG625865;stSG625866;stSG625867;stSG625868;stSG625869;stSG625870;stSG625871;stSG625872;stSG625873;stSG625874;stSG625875;stSG625876;stSG625877;stSG625878;stSG625879;stSG625880;stSG625881;stSG625882 CT13;DKFZp434H2114;HAGE DEAD box protein 43;DEAD box protein HAGE;DEAD-box protein 43;OTTHUMP00000016742;cancer/testis antigen 13;helical antigen;probable ATP-dependent RNA helicase DDX43 APPROVED protein-coding ENSG00000080007 18677 10448 606286 REVIEWED 1312619 DDX42 DEAD (Asp-Glu-Ala-Asp) box helicase 42 This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56239688 56284798 + 59205299 59250409 + 61851567 61896677 + 6480464;6907045 12477932;18588927;17081983;16397294;15489334;15345747;14702039;12234937;10727850;16169070;17643375;19377511;18029348;22586326;17332742;21832049;22939629;16344560;22412018;16009940;18781797;19850743;20360068;21139048;22365833;22623428;15576338 11325 J3KRE3;J3KRV0;J3KTK9;J3QRI2;Q86XP3 AB036090;ABBA01035319;ABBA01035320;ABBA01035321;AC015651;AF083255;AF147429;AK001964;AK095772;AK096751;AK122737;AK126480;AK292908;AL050096;AL527653;AL545851;AMYH01008549;BC008208;BC015505;BC078667;BC093081;BK000566;CH471109;DA440475;NM_007372;NM_203499 AAC32396;AAH08208;AAH15505;AAH78667;AAH93081;BAC66466;BAF85597;BAG50996;BAG53126;BAG53696;BAG54335;CAB43268;DAA00077;EAW94276;EAW94277;EAW94278;NP_031398;NP_987095;Q86XP3 Hs.702010 1683645;1686304;1736658;2163682 A007J39;D17S1492E;RH75315;RH80617 DDX42P;FLJ43179;RHELP;RNAHP;SF3b125 ATP-dependent RNA helicase DDX42;DEAD (Asp-Glu-Ala-Asp) box polypeptide 42;DEAD box protein 42;RNA helicase-like protein;RNA helicase-related protein;SF3b DEAD box protein;SF3b125 DEAD-box protein;splicing factor 3B-associated 125 kDa protein APPROVED protein-coding ENSG00000198231 18676 09909 613369 REVIEWED 2289773 DDX50P1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1 2 2 2 p22.3 32271408 32274128 + 32280092 32282801 + 32426567 32429287 + 11891046 192146 ABBA01074880;AL121653;AMYH01010229;NG_001065 RH-II/GuBp1 pseudo 18974 INFERRED 2289771 DDX50P2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 2 3 3 3 152311380 152320064 - 155376473 155382187 - 154069728 154072033 - 11891046 100421328 ABBA01058870;AC092946;AMYH01013590;NG_025643 RH_II/GuBp2 pseudo ENSG00000240048 18975 INFERRED 734266 DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 130220831 130294505 + 134122360 134194710 + 134094461 134166811 + 1580863;6480464;6907045 21145461;18391951;17081983;15489334;15302935;14713954;12477932;12234937;9872452;8889548;17643375;19902070;16055720;22939629;18029348;22586326;17332742;20360068;19471022;21139048;21890473;21906983;21252943;19322201;19454010 9879 D6RJA6;H0Y9U3;H0YAD5;Q7L014 AB018344;ABBA01068738;ABBA01068739;ABBA01068740;ABBA01068741;ABBA01068742;ABBA01068743;ABBA01068744;ABBA01068745;AC010301;AF106680;AI003503;AK058058;AK126011;AK291788;AMYH01015626;BC012304;BC030755;BC105598;BF244218;BK000565;BX647426;CA314463;CB052404;CH471062;NM_014829 AAD43033;AAH12304;AAI05599;BAA34521;BAF84477;DAA00076;EAW62238;EAW62239;EAW62240;EAW62241;EAW62242;NP_055644;Q7L014 Hs.406549 1336242;2155398;2178901;5491796 D5S1766;DDX46;RH16381;RH65840 FLJ25329;KIAA0801;MGC9936;PRPF5;Prp5 DEAD box protein 46;OTTHUMP00000223132;OTTHUMP00000223133;PRP5 homolog;Prp5-like DEAD-box protein;probable ATP-dependent RNA helicase DDX46 APPROVED protein-coding ENSG00000145833 18681 10862 REVIEWED 1322415 DDX49 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 19 19 19 p12 18935308 18944265 + 18891494 18900436 + 19030484 19039442 + 1580863;6480464 15489334;15057824;14702039;12477932;11790298;8125298;16169070;15342556;16344560;17207965;22939629;20360068;21139048;22242598;22190034 54555 M0QXD4;M0QZC0;M0R0K1;M0R1S3;Q9BVQ8;Q9Y6V7 ABBA01051298;AC002985;AK001294;AK223294;AK291916;AL110272;AL137702;AMYH01009605;AU148229;BC000979;BC002674;BP252678;BX647408;CH471106;DA136213;HB905800;HB919032;HB926276;HB943136;HB954386;HC963209;HC976441;HC983685;HD000546;HD011796;HH961784;NM_019070;NR_033677 AAB81544;AAH00979;AAH02674;ADQ32774;BAA91606;BAD97014;BAF84605;CAH10707;CAH10729;CBF85090;CBF94524;CBF98080;CBG06329;CBG11847;CBV01569;CBV08044;CBV11600;CBV19851;CBV25361;CBX51365;EAW84758;EAW84759;EAW84760;EAW84761;NP_061943;Q9Y6V7 Hs.143187 1670343;1774950;5491661 MARC_6357-6358:997299583:1;RH11747;SHGC-37004 FLJ10432;R27090_2 DEAD box protein 49;probable ATP-dependent RNA helicase DDX49 protein-coding ENSG00000105671 18684 10864 VALIDATED 1321338 DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 18115010 18131645 + 12857547 12874182 + 12966280 12982915 + 6480464 17932509;16381901;15977068;15635413;15489336;15489334;15102925;14702039;12477932;12429849;11230166;11076863;8125298;11024137;11256614;21145461;21110914;18029348;18482256;19615732;19710015;21832049;22939629;16963496;19471022;21139048;21693764;21890473;21906983;21907836;21963094;21081666;22174317;22505724 51202 F5H1N9;Q9H0S4 ABBA01067853;AC007215;AF078843;AF190165;AJ276704;AK054574;AK222940;AK225144;AK302536;AK310501;AL136666;AL833469;AMYH01004292;BC009379;BC068009;CH471094;EF036507;NM_016355;NM_201224 AAF23354;AAH09379;AAH68009;AAQ13709;ABO65093;BAB70762;BAD96660;BAG63808;CAB66601;CAC14786;CAL38198;CAL38590;EAW96277;EAW96281;EAW96283;NP_057439;NP_957518;Q9H0S4 Hs.719938 1706350;1733598;1736282;2139968 A002Q26;D12S1235E;D12S929;SHGC-80741 DKFZp564O176;E4-DBP;FLJ30012;HQ0256;MSTP162;RRP3 DEAD box polypeptide 47;DEAD box protein 47;E4-DEAD box protein;OTTHUMP00000239226;OTTHUMP00000239227;OTTHUMP00000239228;probable ATP-dependent RNA helicase DDX47 APPROVED protein-coding ENSG00000213782 18682 10863 REVIEWED 1322118 DDX50 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 63936917 63982475 + 70331040 70376609 + 70661034 70706603 + 1580863;6480464 11790298;21145461;18615715;17081983;15635413;15489334;12477932;12429849;11891046;8125298;16159877;21182205;22990118;18029348;15303970;22178446;21139048;21907836;21628590 79009 Q9BQ39 AB051075;ABBA01019592;ABBA01019593;ABBA01019594;AF334103;AK223297;AK293577;AK301431;AL137423;AL359844;AMYH01002805;BC000210;BC000272;BC014263;BC018637;CH471083;NM_024045 AAH00210;AAH00272;AAH18637;AAK29402;ABM83473;ABM86684;BAD97017;BAG57047;BAG62959;BAM48570;CAB70733;EAW54304;NP_076950;Q9BQ39 Hs.522984 1335933;1653798;1722903;1768391;5018927 D10S1678;G29242;G60546;RH47526;RH80698 GU2;GUB;MGC3199;RH-II/GuB;mcdrh ATP-dependent RNA helicase DDX50;DEAD box protein 50;OTTHUMP00000019711;RNA helicase II/Gu beta;gu-beta;malignant cell derived RNA helicase;nucleolar protein GU2 APPROVED protein-coding ENSG00000107625 17906 09910 610373 REVIEWED 1349454 DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 17 17 17 q21.1 32795453 32826538 - 33046526 33077600 - 35972363 36003493 - 1580863;6480464 16344560;15635413;15489334;14702039;12477932;12429849;11790298;11124703;21145461;22990118;21988832;22678362;23535730;17314511;19471022;21139048;22586326 11056 A8MTP9;F5H0R7;F5H5G9;K7ELL1;K7EMK0;Q59H21;Q9Y2R4 AB208938;ABBA01001361;ABBA01001362;AC091199;AF077033;AJ010840;AK001245;AK001652;AK025721;AK027425;AK093661;AMYH01008361;AU132775;BC006489;BC012557;BC041785;BG777332;BX492013;CH471199;DA356164;NM_007010 AAD27766;AAH41785;BAA91812;BAD92175;BAG50877;BAG51319;CAA09374;EAW57599;EAW57600;EAW57601;NP_008941;Q9Y2R4 Hs.590937 1659166;1699698;1767146;2124004;2218472 DDX52_4690;RH103454;RH47071;SHGC-57650;STS-AA011050 HUSSY19;ROK1 ATP-dependent RNA helicase ROK1-like;DEAD box protein 52;OTTHUMP00000164157;probable ATP-dependent RNA helicase DDX52 protein-coding ENSG00000141141 20038 09911 612500 VALIDATED 1319993 DDX51 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 12 12 12 q24.33 132239406 132247147 - 131187092 131194833 - 132621139 132628880 - 6480464 17081983;15489334;15302935;14702039;12477932;11790298;21697133;21906983;22586326;22505724 317781 Q8N8A6 AB593157;ABBA01032794;AC138466;AK097078;AL079273;AMYH01004902;BC012461;BC029279;BC040185;BC063603;CH471054;CR936870;NM_175066 AAH12461;AAH40185;BAC04942;BAJ84089;CAI59782;EAW98543;NP_778236;Q8N8A6 Hs.445168 1662105;1667741;1788978;2147915;2166696;2181889;5014051;5015619;5016478;5037552 D11S3114;D8S2278;D8S2279;FB9F8;G65566;GDB:434012;RH48853;RH78651;SGC30786;STS-AA001424 DKFZp686N2081;MGC42193 ATP-dependent RNA helicase DDX51;DEAD box protein 51;Dead box protein 73D-like;OTTHUMP00000238403 protein-coding ENSG00000185163 20082 10865 VALIDATED 1345493 DDX5 DEAD (Asp-Glu-Ala-Asp) box helicase 5 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. This gene consists of 13 exons, and alternatively spliced transcripts containing several intron sequences have been detected, but no isoforms encoded by these transcripts have been identified. [provided by RefSeq, Jul 2008] 17 17 q21 59926200 59932869 - 62494374 62502484 - 1580863;5128512;6480464;6907045 16394250 1996094;17220478;17353931;18377426;2451786;19224332;19171422;18829551;18794152;18239468;18005418;17724023;17699760;17540040;17384675;17369852;17018282;16697732;16344560;15950181;15927448;15782174;15660129;15635413;15592455;15489334;15464984;15304501;15298701;14702039;12738788;12665590;12527917;12477932;12101238;11991638;11790298;11279182;11250900;10837141;10648785;7774924;7525583;2762324;2349099;18954305;10409727;15113910;12595555;17011493;18029348;20966046;17643375;18809582;19718048;20022962;20085707;20124720;20663877;19454010;20818423;17267499;19995069;21145461;22640416;21343338;16055720;16159877;16226712;21182205;22863883;22266867;22810421;22939629;23022728;20308691;20676135;20508642;22750847;15047060;17765891;19928837;15840729;18457437;18624398;19596686;20360068;21900206;22079093;21252943;18698352;18781797;20639865;21942715;21987572;22118674;22156369;22178446;23349811;23455922;23463506;17332742;22086602;20080577;21139048;21549307;21890473;21906983;21907836;22210892;21900255;17361185;17696464;21575865;17620599;22446626;15596820;17932509;19738201;21963094;22365833;22623428;22751105;22963397;23000965;23077236;23151878;23184937;19380743;20856200;21853274;22053931;22174317;22476084;22505724;22944692;16230076;23322042 1655 B4DLW8;J3KRX8;J3KRZ1;J3KTA4;J3KTQ4;J3QKN9;J3QLG9;J3QR02;J3QR62;J3QRN5;J3QRQ7;J3QS79;J3QS97;J3QSF1;K7EKV0;P17844 AB209919;AB451257;AB451382;ABBA01035296;AC009994;AC138744;AC234063;AF015812;AJ010931;AK055995;AK297192;AK297753;AK297905;AK310318;AL133585;AMYH01008560;BC016027;BT006943;BX571764;CH471109;DA191631;NM_004396;X15729;X52104 AAB84094;AAH16027;AAP35589;ABM81613;ABM84700;BAD93156;BAG59680;BAG60103;BAG60224;BAG70071;BAG70196;CAA09408;CAA33751;CAA36324;CAE11890;EAW94202;EAW94203;NP_004387;P17844 Hs.279806 1647142;1656885;1665121;1699176;1700896;1791322;2189359;2190843 D17S1990;DDX5;MARC_2724-2725:991933343:1;PMC102575P1;RH103168;RH104075;RH11006;WI-22548 DKFZp434E109;DKFZp686J01190;G17P1;HLR1;HUMP68;p68 ATP-dependent RNA helicase DDX5;DEAD (Asp-Glu-Ala-Asp) box polypeptide 5;DEAD box protein 5;DEAD box-5;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD);RNA helicase p68;probable ATP-dependent RNA helicase DDX5 APPROVED protein-coding 2746 01615 180630 VALIDATED 1604977 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding. [provided by RefSeq, Sep 2011] X X X p22.11 27139644 27141763 + 22928008 22930127 + 23018078 23020206 + 18388483;17341616;17028776;15489334;12849980;12477932;11922625;20531469;20534591;20932654;20941364;21906983 168400 Q86TM3 ABBA01072132;AC117517;AMYH01022144;AY039237;BC051703;BC067878;CH471074;HC044667;NG_021439;NM_182699 AAH51703;AAH67878;AAK72102;CBH30663;EAW98990;NP_874358;Q86TM3 Hs.434416 CAGE;CT26 DEAD box protein 53;DEAD-box protein CAGE;OTTHUMP00000023054;cancer-associated gene protein;cancer/testis antigen 26;probable ATP-dependent RNA helicase DDX53 APPROVED protein-coding ENSG00000184735 20083 06466 REVIEWED 1354287 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.13 113221967 113250107 - 112079361 112107667 - 113594978 113623284 - 1580863;6480464 15635413;12466272;17081983;16260042;15489334;12477932;12429849;11790298;18954305;21182205;21832049;22910411;19953087;22586326;21988832;22113938;22751105;23000965;23149075 79039 F8VRX4;H0YHH7;H0YHZ9;Q8TDD1 ABBA01019949;AC089999;AF478457;AMYH01004757;AMYH01004758;AY148094;BC001132;BC001848;BC005848;CH471054;NM_001111322;NM_024072 AAH05848;AAI56670;AAL85336;AAN59978;EAW98039;EAW98040;NP_001104792;NP_076977;Q8TDD1 Hs.506861 1736220 D12S1164E DP97;MGC2835 ATP-dependent RNA helicase DDX54;ATP-dependent RNA helicase DP97;DEAD box RNA helicase 97 kDa;DEAD box helicase 97 KDa;DEAD box protein 54;OTTHUMP00000241842;OTTHUMP00000241869 APPROVED protein-coding ENSG00000123064 20084 13129 611665 REVIEWED 1323439 DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been confirmed. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 123683109 123701918 + 122652625 122671435 + 124086672 124105482 + 1580863;6480464 15635413;15489334;12477932;10997877;1552844;21145461;21832049;21139048;21906983;23449627 57696 E7EX41;F5H2I2;F5H5U2;F5H735;Q8IYH0;Q8NHQ9;Q8TEC9 AB046815;ABBA01060397;AC055713;AC117503;AK074219;AK131442;AK301043;AK307384;AL833756;AMYH01004841;BC030020;BC035911;BU619784;CH471054;NM_020936 AAH30020;AAH35911;BAB13421;BAB85021;BAG62656;CAH56233;EAW98419;EAW98420;EAW98421;EAW98422;EAW98423;NP_065987;Q8NHQ9 Hs.286173 1673118;1682369;1746405;1766263;1851555;1851557;2106781;2106783;2106785;2118907;5017227 A006F32;G20768;G38154;G64577;GC29S0405;GC29S06;GC29S08;RH98764;SHGC-149620;STS-N26791;WI-12310 FLJ16577;KIAA1595;MGC33209 ATP-dependent RNA helicase DDX55;DEAD box protein 55;OTTHUMP00000239195;OTTHUMP00000239198 APPROVED protein-coding ENSG00000111364 20085 13130 REVIEWED 1350251 DDX6P1 DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 1 6 6 6 p22.1 30903584 30905016 - 29405382 29406817 - 29297406 29298838 - 442192 ABBA01038032;AL662781;AL662857;AMYH01016195;BX005133;BX927232;CR753509;CR759808;NG_021115 DDX6-Lp;DDX6P;bA150A6.3 APPROVED pseudo 13948 INFERRED 3102883 DDX6P2 DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 2 13 13 13 q31.1 67768589 67770416 + 85725756 85727583 + 86927755 86929582 + 100130117 ABBA01027293;AMYH01005263;BX088568;NG_022972 1742539;2159690 DDX6;GDB:197860 APPROVED pseudo 37806 INFERRED 1352368 DDX7 DEAD (Asp-Glu-Ala-Asp) box polypeptide 7 8135819 338453 Q15320 D26528 2748 2289775 DDX60L DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 4 4 4 q32.3 166607719 166731435 - 169514461 169638213 - 169277886 169401638 - 6480464 16344560;14702039;20708005;21139048;21906983;23000965;23251661 91351 D6RB62;D6RBA2;D6RIU1;H0Y8H0;H0Y939;Q5H9U9 ABBA01070330;ABBA01070331;AC079926;AC093888;AK023530;AK023743;AK055595;AK092461;AK096369;AL832950;AMYH01014696;AMYH01014697;CR933601;DA553350;EB710202;NM_001012967 BAB70966;CAI45925;NP_001012985;Q5H9U9 Hs.535011 1655445;1672398;1720903;1779826;1785074;1850238;1856090;2121144;5022450 D10S275;D4S2447;D4S269;D4S923;G59280;SHGC-153798;SHGC-154783;SHGC-17368;SHGC-34361 DKFZp781D1175;FLJ13468;FLJ31033;FLJ39050 DEAD box protein 60-like;OTTHUMP00000220185;OTTHUMP00000220186;probable ATP-dependent RNA helicase DDX60-like protein-coding ENSG00000181381 26429 VALIDATED 1606490 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 1 1 1 q32.1 173735739 173761697 - 198859647 198905749 - 200613165 200639126 - 6480464 15489336;11256614;16710414;16381901;15489334;12477932;11230166;11076863 83479 B7Z5N6;B7ZBU3;B7ZBU4;E7EQG4;H0Y6Y1;H0Y7Z8;Q5T1V5;Q5T1V6;Q5T1W1 ABBA01027549;ABBA01027550;ABBA01027551;AK299219;AK307569;AL136611;AL445483;AMYH01001637;BC014183;BC020201;BC041801;BU754283;CH471067;DB483119;NM_001031725 AAH14183;AAH41801;BAH12972;CAB66546;CAL38329;CAL38423;EAW91318;EAW91319;NP_001026895;Q5T1V6 Hs.497332 2160259;2164253;2185820 A007K33;SHGC-76142;SHGC-76144 DKFZp564B1023;RP11-92G12.2;ZNHIT5 DEAD box protein 59;OTTHUMP00000033840;OTTHUMP00000033841;probable ATP-dependent RNA helicase DDX59;zinc finger HIT domain-containing protein 5 protein-coding ENSG00000118197 25360 10893 VALIDATED 1349129 DDX56 DEAD (Asp-Glu-Ala-Asp) box helicase 56 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 7 7 7 p13 44704249 44712982 - 44571928 44580662 - 44605016 44614137 - 1580863;6480464 21145461;10749921;17353931;15635413;15489334;15231747;14702039;12690205;12477932;12429849;11891046;11790298;11593297;11230166;8125298;16169070;21411523;16341674;11256614;21139048;21906983;21987572;22925334;22586326 54606 F8WDT8;F8WEI3;G3V0G3;H7BZN7;H7C3E9;Q9NY93 AACC02000110;ABBA01058223;AC004938;AF247666;AJ131712;AK022774;AK125595;AK222662;AK309276;AK315363;AL136700;AMYH01017211;BC001235;BM787430;CA423604;CH236960;CH471128;CR457213;NM_001257189;NM_019082 AAG36876;AAH01235;ABM82141;ABM85324;BAB14238;BAD96382;CAB66635;CAB87992;CAG33494;EAL23752;EAW61093;EAW61094;EAW61095;NP_001244118;NP_061955;Q9NY93 Hs.654762 1680761;1735722;1854810;2161339 D7S2082E;D7S2173E;D7S2312;RH80564 DDX21;DDX26;NOH61 61-kd nucleolar helicase;ATP-dependent 61 kDa nucleolar RNA helicase;DEAD (Asp-Glu-Ala-Asp) box polypeptide 56;DEAD box protein 21;DEAD box protein 56;DEAD-box RNA helicase;OTTHUMP00000159499;OTTHUMP00000207711;OTTHUMP00000207714;nucleolar helicase of 61 kDa;probable ATP-dependent RNA helicase DDX56;putative nucleolar RNA helicase APPROVED protein-coding ENSG00000136271 18193 12154 608023 REVIEWED 1604355 DDX60 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 4 4 4 q32.3 166467307 166569805 - 169374020 169476478 - 169137442 169239958 - 6480464 14702039;12477932;21791617;8125298;18271526;22505724 55601 D6R944;H0Y8Z7;H0Y9B2;Q6B0F7;Q8IY21;Q9H616;Q9NXV7 ABBA01070327;ABBA01070328;ABBA01070329;ABBA01070330;AC068989;AC093888;AK000042;AK001649;AK026333;AK223184;AK225191;AK307404;AL137464;AMYH01014696;BC007820;BC020601;BC038115;BC074781;BX648655;CH471056;CQ888129;NM_017631 AAH07820;AAH20601;AAH38115;AAH74781;BAA90901;BAA91809;BAB15451;BAD96904;CAB70751;CAE46197;CAH61673;EAX04806;EAX04807;EAX04808;EAX04809;NP_060101;Q8IY21 Hs.591710 5021228 GDB:312794 FLJ10787;FLJ20035 DEAD box protein 60;OTTHUMP00000220084;probable ATP-dependent RNA helicase DDX60 protein-coding ENSG00000137628 25942 07877 613974 VALIDATED 1319812 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008] 9 9 p12 32445300 32516322 - 32455300 32526322 - 1580863;6480464;6907045 18428149;16177806;19620789;19591957;19576794;19478455;19454678;19454348;19374189;19374188;19234166;19201382;19193793;19164550;19044019;19017631;18948594;18617992;18446221;18258269;18250407;18242112;18214119;18021446;17911629;17878351;17600090;17541283;17307033;17190814;17182220;17079289;17038590;17038589;16946700;16797201;16707574;16585524;16306043;16188996;16182584;16153868;16127453;16125763;16116171;16009940;15767399;15737993;15708988;15612946;15370293;15297736;15219805;15208624;15181474;15164053;14702039;12477932;11890704;18636086;22908223;20406818;20167631;20492658;20595247;17053203;17093192;17403696;17516545;18268020;18550535;18632970;18635538;18650396;18684960;18849341;18977754;18981155;19122199;19154402;19324880;19615405;20400512;20403326;20581823;23262976;21203974;21288362;20511549;20639488;20519382;21068236;20410276;16281057;17392790;17719635;18243112;18724357;19419966;19484123;19574455;19609254;19628239;19628240;19631370;19846522;19859543;19890046;19893624;19902255;19922606;19948350;20001730;20007272;20034464;20042593;20130065;20144762;20331378;20484300;19881509;22912574;20805493;11002417;21292167;21084468;21187441;21245912;21248047;21336305;21233210;19996094;21835791;20926691;21224412;22862800;23209422;23264040;23388719;21501829;21695051;21690088;23284052;23118418;21113677;21632559;21659521;21903422;21978001;22020100;22022264;19675569;20071582;21811588;21910972;22000018;22000019;19211564;22301134;22301138;21906983;21971670;22328336;21899695;21979817;22067459;21947008;22114345;21890623;22235281;22402283;22504413;21691053;22430200;22607805;22629479;22705106;22745133;23055530;22776165;22992810;23063562;23185463;23325848;23499489;20434986;20818395;23000965;23056170;23399697;22915805;22911572;22787226 23586 A2A376;B3KWW1;F5H5W6;O95786 AA862613;ABBA01065083;ABBA01065084;ABBA01065085;AF038963;AK023661;AK125989;AK301678;AK315040;AL137608;AL161783;AL353671;AMYH01019319;AMYH01019320;BC070029;BC107731;BC132786;BC136610;BX647917;CH471071;DN998145;NM_014314 AAD19826;AAI07732;AAI32787;AAI36611;BAG51213;BAG54273;BAG63151;CAB70840;CAI46068;EAW58547;EAW58548;NP_055129;O95786 Hs.190622 1657785;1659263;1684708;1694666;1721071;1763469;2128357;2161635;2162611 G43514;G59518;RH47960;RH69451;RH78416;SHGC-147173;SHGC-56591;SHGC-57118;SHGC-57421 DKFZp434J1111;DKFZp686N19181;FLJ13599;RIG-I;RIGI;RLR-1 DEAD box protein 58;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide;OTTHUMP00000021185;OTTHUMP00000115910;RIG-1;RIG-I-like receptor 1;RNA helicase RIG-I;probable ATP-dependent RNA helicase DDX58;retinoic acid inducible gene I;retinoic acid-inducible gene 1 protein;retinoic acid-inducible gene I protein APPROVED protein-coding ENSG00000107201 19102 13131 609631 REVIEWED 1349712 DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012] 11 11 q23.3 118125623 118167082 - 118618472 118661972 - 1580863;6480464 1579499;21110914;20392846;17392519;19297524;19285948;18769115;17353931;16756390;16699599;16611246;16364915;16344560;15489334;14702039;14684915;12823589;12477932;11839790;10360675;10319407;8816452;7614484;1394235;21383967;18378046;20158304;17207965;20884783;17898068;19560422;22939629;16147992;21957497;21139048;21906983;20360068;21030982;22022269;10737800;22203041;19542561;21145461;22851315;22965301;23455922;22951725;19738201;23293030;19380743;22190034;22505724;22797925;22836354 1656 B2R858;P26196 ABBA01039696;ABBA01039697;AI265778;AK021715;AK093657;AK313244;AMYH01004073;AP002954;AP004609;BC026228;BC039826;BC065007;BF810127;CH471065;D17532;DA993470;HC879394;HD033103;NM_001257191;NM_004397;Z11685 AAH39826;AAH65007;ADQ32638;BAA04482;BAG36055;CBM42913;CBV35646;EAW67412;EAW67413;NP_001244120;NP_004388;P26196 Hs.408461 1342070;1680443;1731821;1731827;1733312;1742539;2116343;2132259;2138159;2142007;2159690;2162044;2218474;5015619;5122418 D11S1371;D11S1375;D11S1930;D11S3114;D11S4104;D11S4963;DDX6;DDX6_4692;GDB:197860;RH65211;SGC30501;SGC31470;SHGC-37225;SHGC-53933;STS-N71584 FLJ36338;HLR2;P54;RCK ATP-dependent RNA helicase p54;DEAD (Asp-Glu-Ala-Asp) box polypeptide 6;DEAD box protein 6;DEAD box-6;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD);OTTHUMP00000232837;OTTHUMP00000232838;oncogene RCK;probable ATP-dependent RNA helicase DDX6 APPROVED protein-coding 2747 02638 600326 REVIEWED 1344007 DEC1 deleted in esophageal cancer 1 The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008] 9 9 q32 116943918 117204744 + 117904097 118164923 + 1580863;7240710 21779800;10612805;19339270;17943723;15580306;15164053;14702039;12477932;8603412;22728071;21317427;19624270;20379614;20975315;20935061;20821348;21829689;23423709;22723347;22644784;23180869;22844531 50514 Q8N2T2;Q9P2X7 AB022761;ABBA01042652;ABBA01042653;ABBA01042654;ABBA01042655;ABBA01042656;ABBA01042657;AK056153;AL355601;AL714001;AL731824;AMYH01021675;AMYH01021676;BC030567;BC107103;CH471090;NG_027530;NM_017418 AAH30567;AAI48553;AAI53140;BAA96242;EAW87436;EAW87437;NP_059114;Q9P2X7 Hs.148841 1337150;1339891;1709138;1711064;1759787;1759789;1761911;1764797;1849037;2161492 D9S1776;D9S926;SHGC-145845;SHGC-148364;SHGC-170031;SHGC-170033;SHGC-85730;SHGC-86168;WI-10548;WI-15546 CTS9 OTTHUMP00000021982;candidate tumor suppressor CTS9;deleted in esophageal cancer 1 APPROVED protein-coding ENSG00000173077 23658 16068 133239;604767 VALIDATED 735964 DECR2 2,4-dienoyl CoA reductase 2, peroxisomal 16 16 16 p13.3 652405 662884 + 391859 402488 + 451858 462487 + 1580863;6480464 19027726;17081983;15616553;15489334;14702039;12477932;11514237;11157797;8125298;17207965;20178365;23314748;21832049;10811639;19953087 26063 G3V0I9;H7C078;Q4VXZ8;Q9NUI1 ABBA01030374;AE006463;AJ293009;AK055839;AK094340;AK128012;AK225961;AL023881;AL442076;AMYH01006992;BC010740;BC011968;BC030226;CH471112;NM_020664 AAH10740;AAH11968;AAK61231;ADQ31635;BAC87232;CAC05664;CAC09442;EAW85811;EAW85812;EAW85813;EAW85814;EAW85815;EAW85816;NP_065715;Q9NUI1 Hs.628831 1659835;1712072;1804340;1807356;1807562;1807694;1807898;1816550;1825354;1837030;1842202;1843596;2049388;2049390;2049392;2049394;2049396;2049398;2049400;2049402;2049404;2049406;2049408;2049410;2049412;2049414;2049416;2049418;2049420;2049422;2049424;2049426;2049428;2049430;2049432;2049434;2049436;2049438;2049440;2049442;2049444;2049446;2049448;2049450;2049452;2049454;2049456;2049458;2049460;2049462;2049464;2049466;2049468;2104748;2104750;2104752;2104754;2104756;2104758;2109227;2151594;2167736;5115107 Cda1cf03;DECR2_9453;ECD03094;ECD04649;ECD04753;ECD04820;ECD04924;ECD09317;ECD13783;ECD19679;ECD22304;ECD23008;G06857;G54084;REN95838;REN95839;REN95840;REN95841;REN95842;REN95843;REN95844;REN95845;REN95846;REN95847;REN95848;REN95849;REN95850;REN95851;REN95852;REN95853;REN95854;REN95855;REN95856;REN95857;REN95858;REN95859;REN95860;REN95861;REN95863;REN95864;REN95865;REN95866;REN95867;REN95868;REN95869;REN95870;REN95872;REN95873;REN95874;REN95875;REN95876;REN95877;REN95878;REN95879;REN95880;RH11550;RH70775;stSG609100;stSG609102;stSG609103;stSG609104;stSG609105;stSG609107 PDCR;SDR17C1 2,4-dienoyl-CoA reductase 2;2-4-dienoyl-coenzyme a reductase 2, peroxisomal;OTTHUMP00000045513;OTTHUMP00000067571;peroxisomal 2,4-dienoyl-CoA reductase;short chain dehydrogenase/reductase family 17C, member 1 protein-coding ENSG00000242612 2754 16789 VALIDATED 731970 DEAF1 DEAF1 transcription factor 11 11 p15.5 634225 685740 - 644225 695740 - 728204;1580863;6480464 9773984 18826651;16467535;15489334;15302935;15161925;12477932;11705868;11427895;10521432;9417089;8889548;16169070;11751867;18561871;19565498;19668219;20226168;20368287;22328058;22442688;21900206;22321011;23080069 10522 H0YCH1;H0YCY2;O75512 AB209831;ABBA01015199;ABBA01015200;ABBA01015201;AC131934;AF007165;AF049459;AF049460;AF068892;AF068893;AF068894;AF068895;AF068896;AF068897;AK289873;AK291383;AMYH01003291;AP006284;BC042135;BC053322;BI463261;BM696110;BQ267366;CH471158;FJ985253;NM_021008 AAB62704;AAC25714;AAC25715;AAC25716;AAC25717;AAC25718;AAC25719;AAC79676;AAC79677;AAH53322;ACE86447;ACE87123;ACU88060;BAD93068;BAF82562;BAF84072;EAX02370;EAX02371;NP_066288;O75398 Hs.243994;Hs.448664 1725799;1857420;2109225;2117128;2164910;2175808 D11S2273E;DEAF1_9129;G62137;RH12540;SHGC-31847;STS-D51166 NUDR;SPN;ZMYND5 OTTHUMP00000229456;OTTHUMP00000229617;deaf-1 related transcriptional regulator (nudr);deformed epidermal autoregulatory factor 1 homolog;nuclear DEAF-1-related transcriptional regulator;suppressin;zinc finger MYND domain-containing protein 5 APPROVED protein-coding ENSG00000177030 14677 04027 602635 VALIDATED 733605 DECR1 2,4-dienoyl CoA reductase 1, mitochondrial This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008] 8 8 q21.3 91082756 91133403 + 91013580 91064227 + 1580863;6480464;7240710 7818482;19049547;19027726;18568448;18472006;18193341;16421571;15629123;15531764;15489334;12477932;12397064;11591162;10497069;10318788;9403065;8993540;8300563;7263650;1859445;1495956;19019082;19773279;20379614;18029348;20877624;21182205;21832049;19738201;22623428;20360068;21139048;22360420;23446634 1666 B7Z6B8;E5RFV2;E5RGS6;E5RHR1;E5RID6;E5RJD2;E5RJG7;H0YAW3;Q16698 ABBA01037402;AC004612;AF049895;AF069291;AK300069;AMYH01018873;BC105080;BC105082;BC143669;CH471060;L26050;NG_008042;NM_001359;U49352;U78302 AAA67551;AAB09423;AAB88724;AAC14671;AAC62233;AAI05081;AAI05083;BAH13204;EAW91662;EAW91663;EAW91664;NP_001350;Q16698 Hs.492212 1684570;1717677;1768247;1856114;5127129 RH122269;RH17524;RH18400;RH78738;RH99111 DECR;NADPH;SDR18C1 2,4-dienoyl-CoA reductase, mitochondrial;4-enoyl-CoA reductase;OTTHUMP00000225076;OTTHUMP00000225081;short chain dehydrogenase/reductase family 18C, member 1 APPROVED protein-coding ENSG00000104325 2753 01959 222745 REVIEWED 1353632 DEDD2 death effector domain containing 2 This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 19 19 19 q13.2 39503547 39522608 - 47394592 47413653 - 42702745 42724304 - 6480464 11741985;16303743;15489334;12527898;12477932;12235123;11965497;20211142;14634625;15146197;16344560;18989622;18029348 162989 M0QXK7;M0QYK9;Q8WXF8 AA635978;ABBA01040841;AC006486;AC010247;AC098778;AF443591;AF457575;AK075328;AK130203;AK307895;AMYH01009827;AY125488;BC013372;BC027930;BM908148;BX374729;BX458265;CH471126;CN373297;CR984238;CT000394;DA821401;DC337066;HY033141;HY033487;NM_001270614;NM_001270615;NM_133328;NR_073046;NR_073047;NR_073048;NR_073049;NR_073050;NR_073051;NR_073052 AAH13372;AAH27930;AAL48220;AAM10835;AAM95240;BAC11551;EAW57110;EAW57111;EAW57112;NP_001257543;NP_001257544;NP_579874;Q8WXF8 Hs.515432;Hs.741580 2122940;2180619 A005M44;G31114 FLAME-3 DED-containing protein FLAME-3;DNA-binding death effector domain-containing protein 2;FADD-like anti-apoptotic molecule 3;death effector domain-containing DNA binding protein 2 APPROVED protein-coding ENSG00000160570 24450 10868 REVIEWED 1347707 DEFA10P defensin, alpha 10 pseudogene 8 8 p23.1 6802446 6803418 - 6825663 6826635 - 15494476 449493 ABBA01007049;AF233439;AMYH01018300;AY746435;NR_029386 Hs.552564 defensin, alpha 10, pseudogene pseudo 31801 VALIDATED 1603418 DEFA11P defensin, alpha 11 pseudogene 8 8 8 p23.1 6854014 6854127 - 6874150 6874463 - 6886841 6886954 - 15588320;15494476 724068 ABBA01007049;AF238378;AMYH01018310;AY746436;NR_073421 Hs.690600 DEFAP3 pseudo 33354 VALIDATED 731723 DEDD death effector domain containing This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134157929 134169640 - 159357391 159369102 - 161090767 161102478 - 734998;6480464 9774341 11965497;15688372;9832420;16710414;15489334;14702039;12527898;12477932;12235123;11753564;11741985;17353931;19615732;20070122;21832049;20211142;21890473;22318606;22719072 9191 B1AQP5;B4DKM1;O75618 ABBA01016598;ABBA01016599;AF043733;AF064605;AF083236;AF100341;AJ010973;AK001497;AK022531;AK296629;AL591806;AMYH01001457;BC013910;BC016724;BG565440;CH471121;CR536556;NM_001039711;NM_001039712;NM_032998 AAC17110;AAC33105;AAC80280;AAD16414;AAH13910;AAH16724;ADZ15864;BAG51086;BAG59233;CAA09445;CAG38793;EAW52648;EAW52649;EAW52650;EAW52651;EAW52652;EAW52653;NP_001034800;NP_001034801;NP_127491;O75618 Hs.744092 1793346;2139804;2174889;2218476;5022687 D1S3564;DEDD;DEDD_4693;PMC21147P1;WI-12338 CASP8IP1;DEDD1;DEFT;FLDED1;KE05 DEDPro1;FLDED-1;OTTHUMP00000031821;OTTHUMP00000031822;death effector domain-containing protein;death effector domain-containing testicular molecule APPROVED protein-coding ENSG00000158796 2755 06022 606841 REVIEWED 1317434 DEF6 differentially expressed in FDCP 6 homolog (mouse) DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008] 6 6 p21.33-p21.1 35373573 35397526 + 35265595 35289548 + 6480464 19251698;18391951;17121847;16189514;15023524;14702039;12923183;12651066;12648457;12477932;20546612;19393345;19423540;19679060;20406964;20438785;21832049;18029348;23088770;22829599 50619 F5H853;H0Y7V7;Q9H4E7 ABBA01038224;ABBA01038225;ABBA01038226;AJ276095;AK093613;AK314756;AL110182;AMYH01016265;AY241694;BC007702;BC017504;CH471081;NM_022047;Z97832 AAI68373;AAO91767;BAG37294;BAG52743;CAC08450;EAX03821;EAX03822;EAX03823;EAX03824;NP_071330;Q9H4E7 Hs.15476 1690296;1694186;2191287;5491234 AL035190;MARC_17107-17108:1020871549:3;MARC_2875-2876:991933604:3;RH91902 IBP;SLAT;SWAP70L DEF-6;IRF4-binding protein;OTTHUMP00000016251;SWAP-70-like adaptor protein of T cells;differentially expressed in FDCP 6 homolog APPROVED protein-coding ENSG00000023892 2760 10869 610094 VALIDATED 1603215 DEF8 differentially expressed in FDCP 8 homolog (mouse) 16 16 16 q24.3 75080190 75100010 + 88542652 88561968 + 90015139 90034468 + 6480464 14702039;12477932;8889548;21906983 54849 H3BMP4;H3BMT5;H3BNN0;H3BQ81;H3BQH5;H3BQX9;H3BRA7;H3BSH6;H3BT01;H3BT87;H3BTS7;Q6ZN54 ABBA01014119;AC092143;AF289561;AK000193;AK055099;AK095051;AK096485;AK131370;AK225539;AK295880;AK296410;AK303510;AL157465;AMYH01007941;BC015482;BC105592;BC130482;BC144038;BM546034;BM712309;BX474773;CH471184;DC332872;NM_001242816;NM_001242817;NM_001242818;NM_001242819;NM_001242820;NM_001242821;NM_001242822;NM_017702;NM_207514 AAH15482;AAI05593;AAL55745;ADR82741;BAA91000;BAC04802;BAD18521;BAG52977;BAG59074;BAG64541;BAH12212;EAW66667;EAW66668;NP_001229745;NP_001229746;NP_001229747;NP_001229748;NP_001229749;NP_001229750;NP_001229751;NP_060172;NP_997397;Q6ZN54 Hs.62771 1684696;1693738 RH65234;SHGC-58808 FLJ20186;MGC104349 DEF-8;OTTHUMP00000176849;OTTHUMP00000245291;differentially expressed in FDCP 8 homolog protein-coding ENSG00000140995 25969 07882 VALIDATED 1352494 DEFA7P defensin, alpha 7 pseudogene 8 8 p23.1 6896789 6896961 - 6896003 6896961 - 19194307;15588320;15494476 724067 ABBA01007049;AF238378;AMYH01018310;AY746432;NG_005908 AAT68882 Hs.690601 DEFA7 pseudo 31798 INFERRED 1353794 DEFA4 defensin, alpha 4, corticostatin Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Jul 2008] 8 8 p23 6780755 6783196 - 6793345 6795786 - 1580863;6480464 19363140;19194307;19135873;17088326;12477932;8469233;2843187;2501794;2500436;17132727;15620707;19423540;20016407;20056178;20237496;20406964;20438785;20727496;21734341;23050799 1669 P12838;Q6EZF8 ABBA01007049;AF200455;AF233439;AMYH01018300;BC093959;BC106747;BC112091;CH471153;CS541829;NM_001925;U18745;X65977 AAA64488;AAH93959;AAI06748;AAI12092;AAT68877;CAA46792;CAM91151;EAW80486;NP_001916;P12838 Hs.591391 1760141;2143881 D8S1918;SHGC-132038 DEF4;HNP-4;HP-4;HP4;MGC120099;MGC138296 OTTHUMP00000115440;corticostatin;defensin, alpha 4, preproprotein;neutrophil defensin 4 APPROVED protein-coding ENSG00000164821 2763 03099 601157 REVIEWED 1347789 DEFA9P defensin, alpha 9 pseudogene 8 8 p23.1 6793594 6794467 - 6816711 6817783 - 15588320;15494476 449492 ABBA01007049;AF233439;AMYH01018300;AY746434;NR_073408 Hs.552565 DEFAP2 defensin, alpha 9, pseudogene pseudo 31800 VALIDATED 1349881 DEFA8P defensin, alpha 8 pseudogene 8 8 8 p23.1 6784553 6789132 - 6795176 6799755 - 6807766 6812345 - 15588320;15494476 449491 ABBA01007049;AF195487;AF233439;AMYH01018300;AY746433;NR_073407 Hs.627154 DEFAP1 defensin, alpha 8, pseudogene pseudo 31799 VALIDATED 1350464 DEFA1 defensin, alpha 1 Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, May 2010] 8 8 p23.1 6822574 6838481 - 6835171 6837614 - 1580863;6480464 10914484;18957723;18782756;18757648;18616948;18566229;18474654;18472248;18435932;18347011;18191790;18003664;17703413;17635867;17606342;17531545;17448537;16837860;16817779;16709851;16700921;16246847;15944200;15772169;15719067;15489334;15340161;15208269;12913926;12871849;12823617;12767998;12710851;12492457;12488509;12477932;12378798;12060767;9444979;9402371;9030614;8915011;22297599;8530462;8477861;8476558;8325384;8080882;7873202;4056036;3370315;3174637;2997278;2918759;2917986;2793180;2045096;2019582;2006422;1445873;1445872;1339298;17132727;15620707;20880148;20424487;17207965;20715983;16169070;19263072;19477909;19640840;19861439;19864642;19897717;19963419;20097206;20151808;20214904;20502117;20305815;20195543;21187770;21165432;21333105;21831449;20360068;21849484;22270360;22737966;23050799;22219625;21139048;22496447;21861873;21900206;23011762;22733823 1667 P59665 AF200455;AF233439;AF238378;AL036554;AMYH01018300;AMYH01018301;AW291977;BC069423;BC093791;BC112188;L12690;M21130;M26602;NM_004084;X52053 AAA36382;AAA52302;AAA52303;AAH69423;AAH93791;AAI12189;AAT68878;AAT68879;AAT68880;AAT68883;ABM87797;ABM92162;ABM92163;ADQ32866;CAA36280;NP_004075;P59665 Hs.380781 5106501;5120871;5126845 PMC152639P3;RH71432;STS-N54165 DEF1;DEFA1B;DEFA2;HNP-1;HP-1;HP1;MGC138393;MRS OTTHUMP00000196017;defensin, alpha 1, myeloid-related sequence;defensin, alpha 2;myeloid-related sequence;neutrophil defensin 1 APPROVED protein-coding ENSG00000206047 2761 00499 125220 REVIEWED 1354414 DEFB103B defensin, beta 103B 8 8 p23 7776136 7777596 + 7738726 7740105 + 6480464 11085990;11223260;11714836;11741980 414325 P81534 AB037972;AC130365;AF217245;AF252830;AF285443;AF295370;AF301470;AF516673;AJ237673;AY785153;NM_001081551 AAF73853;AAG02237;AAG22030;AAI48675;AAM62424;AAV41025;BAB40572;CAC03097;NP_001075020;P81534 Hs.283082;Hs.637221 5492943 UniSTS:483325 DEFB103A BD-3;DEFB-3;HBD3;beta-defensin 103;beta-defensin 103B;beta-defensin 3;defensin, beta 103;defensin-like protein;hBD-3 protein-coding 31702 606611 1345125 DEFA3 defensin, alpha 3, neutrophil-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, May 2010] 8 8 p23.1 6860805 6863226 - 6873391 6875816 - 1580863;6480464 19363140;19194307;18957723;18757648;18474654;18472248;18435932;18154640;18003664;17845323;17531545;17214878;16837860;16700921;15944200;15489334;15208269;15004048;12913926;12871849;12710851;12477932;12375270;10914484;8530462;8477861;8476558;8325384;8080882;4056036;3174637;2997278;2918759;2917986;2006422;1339298;17132727;15620707;20880148;19263072;19423540;19758174;19864642;20151808;20406964;20438785;20502117;20424487;20195543;21187770;21333105;21831449;22297599;22737966;23050799;21861873;23011762 1668 P59666;Q6EZE9 ABBA01007049;AF200455;AF238378;AMYH01018310;BC027917;BC119706;CS541827;L12691;M21131;M23281;NM_005217;X13621 AAA35753;AAA52304;AAB57722;AAH27917;AAI19707;AAT68881;AAT68885;ABW03625;CAA31952;CAM91150;NP_005208;P59666 Hs.654448 5106501;5120871;5126845 PMC152639P3;RH71432;STS-N54165 DEF3;HNP-3;HNP3;HP-3;HP3 OTTHUMP00000115439;defensin 3, neutrophil-specific;neutrophil defensin 3;neutrophil peptide 3 APPROVED protein-coding ENSG00000239839 2762 05159 604522 REVIEWED 3497520 DEFA1B defensin, alpha 1B 8 8 p23.1 6841698 6844134 - 6854288 6856724 - 12477932;15944200;19169650;10914484;1339298;1445872;1445873;15340161;15489334;15616305;17452329;18083107;2019582;2917986;2918759;3174637;3370315;4056036;8325384;8477861;8530462 728358 P59665 AF200455;AF238378;AX405718;NM_001042500 AAT68875;AAT68884;CAD34825;NP_001035965;P59665 Hs.380781 5106501;5120871;5126845 PMC152639P3;RH71432;STS-N54165 DEFA1;HNP-1;HP-1;HP1 OTTHUMP00000194783;alpha-defensin 1;defensin, alpha 1;neutrophil defensin 1 protein-coding ENSG00000240247 33596 PROVISIONAL 1605472 DEFB104B defensin, beta 104B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7315240 7320014 - 7327830 7332604 - 11481241;16033865;15727258;15588320;12916016;12734011;12193721;11854508;21879330;21385545 503618 Q8WTQ1 AC130360;AJ314834;AMYH01018319;BC100848;BC100849;BC100850;BC100851;NM_001040702 AAI00849;AAI00850;AAI00851;AAI00852;CAC85511;NP_001035792;Q8WTQ1 Hs.559507 BD-4;DEFB-4;DEFB104A;hBD-4 OTTHUMP00000195799;beta-defensin 104;beta-defensin 4;defensin, beta 104;defensin, beta 104B APPROVED protein-coding ENSG00000177023 26165 REVIEWED 1345754 DEFA5 defensin, alpha 5, Paneth cell-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Jul 2008] 8 8 p23.1 6900239 6901669 - 6912829 6914259 - 1580863;6480464 19589339;19542459;19250512;19194307;19135873;18782756;18635180;18499668;18435932;18394979;18258845;18191790;17250830;17088326;15489334;12660734;12477932;12021776;9588893;9169779;8808285;8626737;1429669;22354633;20375624;20673868;17207965;20819643;19423540;19640840;19855381;20130047;20237496;20406964;20438785;20452482;20629326;21125297;19080508;21873175;21672195;22573326;21988832;23269786;17132727;21734566 1670 Q01523 ABBA01007049;AF238378;AMYH01018310;BC069690;BC107079;CH471153;M97925;NM_021010 AAA35754;AAH69690;AAI07080;AAT68886;ADQ32910;EAW80489;NP_066290;Q01523 Hs.655233 2137239;5493043 RH17763;UniSTS:484029 DEF5;HD-5;MGC129728 HD5(20-94);OTTHUMP00000115441;defensin 5;defensin, alpha 5, preproprotein;defensin-5 APPROVED protein-coding ENSG00000164816 2764 02720 600472 REVIEWED 1343817 DEFA6 defensin, alpha 6, Paneth cell-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 6759313 6760691 - 6769629 6771008 - 6782216 6783598 - 1580863;6480464 19250512;19194307;19135873;17088326;15613481;15489334;12477932;8808285;8626737;8417977;22722251;16341674;17207965;19423540;20237496;20406964;20438785;20979654;23028900;21832049;21873175;21672195;17132727;21734566 1671 Q01524;Q6EZF9 ABBA01007049;AF200455;AF205406;AF233439;AF314060;AMYH01018300;BC069667;BC069710;BC069728;BC069769;BC093951;BC093953;BM855691;CH471153;M98331;NM_001926;U33317 AAB59357;AAC50382;AAH69667;AAH69710;AAH69728;AAH69769;AAH93951;AAH93953;AAT68876;ADQ32934;EAW80484;NP_001917;Q01524 Hs.711 2159618;5493351 STS-M98331;UniSTS:485810 DEF6;HD-6 OTTHUMP00000115425;defensin 6;defensin-6 APPROVED protein-coding ENSG00000164822 2765 02719 600471 REVIEWED 1604881 DEFB106B defensin, beta 106B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7327436 7331319 - 7340026 7343909 - 6480464 16033865;15727258;15588320;12916016;12734011;12193721;11854508 503841 Q8N104 AB089181;AC130360;AC134684;AF529417;AF540978;AMYH01018319;AY122466;BC100844;BC100845;BC100846;BC100847;BC110062;BC111688;NM_001040704 AAI00845;AAI00846;AAI00847;AAI00848;AAI10063;AAI11689;AAM93908;AAN33114;AAQ09526;BAC10631;NP_001035794;Q8N104 Hs.511958 DEFB106A BD-6;DEFB-6;OTTHUMP00000159649;beta-defensin 106;beta-defensin 6;defensin, beta 106 APPROVED protein-coding ENSG00000187082 28879 REVIEWED 1344949 DEFB103A defensin, beta 103A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103B, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense. [provided by RefSeq] 8 8 p23 7273901 7275280 - 7286410 7287682 - 1580863;6480464 19194307;19108000;18925411;18711400;18627502;18538383;18452706;18385759;18345485;18345484;18180295;18167348;18006661;17460726;17415576;17015038;17007044;16954397;16818731;16778986;16741514;16634647;16034119;15934078;15829297;15820309;14981906;14714554;14703118;12892899;12840147;12825122;12727027;12477932;12375270;12013554;11741980;11714836;11702237;11523142;11223260;11085990;11076863;19554343;19219676;19480463;19580334;19675119;19702947;19734018;19741426;19995893;20104491;20128731;20385753;20483368;20483750 55894 P81534;Q5U7J2 AB037972;AC130360;AF217245;AF295370;AF301470;AF516673;AJ237673;AY785153;NM_018661 AAF73853;AAG02237;AAG22030;AAI11597;AAM62424;AAV41025;BAB40572;CAC03097;NP_061131;P81534;Q5U7J2 Hs.283082;Hs.637221 5492943 UniSTS:483325 DEFB103;DEFB103B;DEFB3;HBD-3;HBD3;HBP-3;HBP3 BD-3;beta-defensin 103;beta-defensin 3;defensin, beta 103;defensin, beta 3;defensin-like protein protein-coding 15967 05968 606611 1602611 DEFB107B defensin, beta 107B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7340778 7354243 + 7353368 7366833 + 6480464 19194307;16033865;15727258;15588320;12916016;12734011;12193721;11854508 503614 Q8IZN7 ABBA01124138;ABBA01184135;AC134684;AF540979;AMYH01018319;AY122467;BC137510;BC137513;DQ119826;NM_001040705 AAI37511;AAI37514;AAI48566;AAI56677;AAM93909;AAN33115;AAZ81951;NP_001035795;Q8IZN7 Hs.520874;Hs.713490 DEFB107A;HsT21816 BD-7;DEFB-7;OTTHUMP00000195800;beta-defensin 107;beta-defensin 7;defensin, beta 107 APPROVED protein-coding ENSG00000198129 31918 REVIEWED 1606420 DEFB108B defensin, beta 108B 11 11 q13.4 71221894 71226256 + 71544246 71548608 + 19194307;12734011;12600824;11854508 245911 Q8NET1 ABBA01017544;ABBA01017545;AF529416;AMYH01003790;AP002495;AY122468;BX095678;NM_001002035 AAI40260;AAI41634;AAM93910;AAQ09525;NP_001002035;Q8NET1 Hs.555032 BD-8;DEFB-8;OTTHUMP00000236120;beta-defensin 108B;beta-defensin 8;defensin, beta 108, pseudogene 1;defensin, beta 8;hBD-8 protein-coding ENSG00000184276 29966 16790 PROVISIONAL 1605453 DEFB108P1 defensin, beta 108, pseudogene 1 8 8 p23.1 7829096 7832288 - 7791934 7796292 - 12734011;11854508 503694 A8MXU0 AC130365;AC131269;AF540980;NG_005426 A8MXU0;AAN33116 Hs.583890 DEFB-8;DEFB108;DEFB108A pseudo 18089 INFERRED 1344017 DEFB105A defensin, beta 105A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7716940 7718770 - 7679530 7681360 - 1580863;6480464 16033865;15727258;15588320;12916016;12734011;12477932;12193721;11854508;19194307;21861459 245908 Q8NG35 AB089180;AC084121;AF540977;AMYH01018370;AMYH01018371;BC128437;BC128438;BC140937;NM_152250 AAI28438;AAI28439;AAI40938;AAI60153;AAN33113;BAC10630;NP_689463;Q8NG35 Hs.381378 BD-5;DEFB-5;DEFB105;DEFB105B OTTHUMP00000195976;beta defensin 5;beta-defensin 105;beta-defensin 5;defensin, beta 105;defensin, beta 5 APPROVED protein-coding 18087 10871 REVIEWED 2289882 DEFB108P3 defensin, beta 108, pseudogene 3 8 p23.1 11952685 11957044 - 12734011;11854508 504185 AC130366;AMYH01018483;NG_007390 pseudo 26227 INFERRED 2289876 DEFB108P2 defensin, beta 108, pseudogene 2 8 8 p23.1 7230666 7235022 + 7230666 7235022 + 12734011;11854508;16421571 503837 A8MXU0 AC130360;AF540980;AMYH01018319;NG_007389 AAN33116 Hs.583890 pseudo 30847 INFERRED 1604132 DEFB105B defensin, beta 105B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7332653 7334483 + 7345243 7347073 + 6480464 16033865;15727258;15588320;12916016;12734011;12477932;12193721;11854508 504180 Q8NG35 AB089180;ABBA01124138;AC134684;AF540977;AMYH01018319;BC128437;BC128438;BC140937;NM_001040703 AAI28438;AAI28439;AAI40938;AAN33113;BAC10630;NP_001035793;Q8NG35 Hs.381378 DEFB105A BD-5;DEFB-5;OTTHUMP00000159652;beta-defensin 105;beta-defensin 5;defensin, beta 105 APPROVED protein-coding 29930 REVIEWED 2289875 DEFB108P4 defensin, beta 108, pseudogene 4 8 8 p23.1 12198933 12203287 - 12198933 12203287 - 12734011;11854508 503840 ABBA01026873;AC087203;AMYH01018523;NG_007391 pseudo 30174 INFERRED 4108509 DEFB109P2 defensin, beta 109, pseudogene 2 8 p23.1 12295164 12302246 - 15496913 503839 AC087203;AMYH01018523;NG_023401 pseudo 30592 INFERRED 4892150 DEFB109P3 defensin, beta 109, pseudogene 3 8 p23.1 12008472 12015543 - 15496913 503838 AC130366;AMYH01018523;NG_028121 pseudo 30838 INFERRED 1350254 DEFB111 defensin, beta 111 6 p21 50094515 50097653 - 11854508;16033865 245914 AL138879;DQ012015;NM_001037497 AAI48542;AAI56745;AAY59751;NP_001032586;Q30KQ9 Hs.571093 DEFB-11 protein-coding 18092 18756 1351347 DEFB109P1 defensin, beta 109, pseudogene 1 8 p23.1 12250793 12257874 - 12600824;11854508;12734011 245912 Q30KR1 AC087203;AF540981;NR_024044 Hs.721640 DEFB-9;DEFB109;DEFB109A pseudo 18090 PROVISIONAL 737379 DEFB1 defensin, beta 1 Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008] 8 8 p23.1 6715507 6722939 - 6728097 6735529 - 4892265;4892263;4892269;4892271;4892247;4892248;4892251;4892256;4892259;4892260;1331523;4892249;4892254;2312491;4892250;4892257;4892262;6480464 11934727;15696078;17076783;14521940;21077791;20193032;16700921;15820309;15463886;11340353;11829455;18699806;16435024;16740310;17960157;15569478;17000097 10521347;12517831;19516112;19390326;19336370;19194307;19135873;19118900;18991164;18938660;18840281;18817538;18717821;18627502;18614876;18566581;18511430;18452706;18433872;18397186;18346877;18059266;17921115;17760820;17508030;17415576;17361499;17108702;17071614;16984277;16741514;16572527;16512757;15829297;15489334;15383276;15382127;15322010;15317821;15242954;14707135;14703118;12728165;12727027;12695553;12537649;12477932;12381917;12153515;12149255;12054642;12010514;11741980;11714914;11486002;11453504;11442756;11148522;11023262;10879797;10456939;10338476;10223729;10213993;9875146;9541493;9268634;9070620;9038346;8889548;7667395;7628632;17187760;20618470;20618959;20673868;20720450;17207965;21087323;19423540;19460328;19477909;19590686;19702947;19706017;19741426;19789190;19811257;19829306;19954367;20016407;20056178;20060856;20128731;20237496;20371866;20406964;20438785;20452482;20305815;20526610;21248850;20858604;19141978;21280982;21122132;23150110;23204181;23028900;19080508;22522766;21900206;22059360;21818276;21551252;21843332;21631237;21520074;21983064;22102811;22323338;22384213;22159483;22269973;22444247;23046822;23185513;22386945;20650771;22391815;22050386 1672 P60022;Q86SQ8 AB102694;ABBA01007051;AF205406;AF233439;AMYH01018300;BC033298;BC047677;BM673094;CH471153;NM_005218;U50930;U50931;U73945;X92744;Z50788 AAB49758;AAC51728;AAH33298;AAH47677;ADQ33019;BAC56888;CAA63405;CAA90650;EAW80482;NP_005209;P60022 Hs.32949 1649109 RH71318 BD1;DEFB-1;DEFB101;HBD1;MGC51822 BD-1;OTTHUMP00000159500;beta-defensin 1;beta-defensin-1;defensin beta 1 APPROVED protein-coding ENSG00000164825 2766 03634 602056 REVIEWED 1346729 DEFB113 defensin, beta 113 6 6 6 p12.3 51492462 51493410 - 50044349 50045297 - 49936390 49937338 - 6480464 16033865;11854508 245927 Q30KQ7 ABBA01050582;AL138879;AMYH01016340;DQ012017;NM_001037729 AAI41481;AAI53176;AAY59753;NP_001032818;Q30KQ7 Hs.582789 DEFB-13 OTTHUMP00000217778;beta-defensin 113;beta-defensin 13;defensin, beta 13 protein-coding ENSG00000214642 18094 PROVISIONAL 1353566 DEFB112 defensin, beta 112 6 6 6 p12.3 51567362 51572442 - 50119247 50124323 - 50011288 50016364 - 16033865;11854508 245915 Q30KQ8 ABBA01050581;AL138879;AMYH01016340;AY122469;CH471081;DQ012016;NM_001037498 AAI41480;AAI48765;AAM93911;AAY59752;EAX04351;NP_001032587;Q30KQ8 Hs.571092 DEFB-12 OTTHUMP00000217780;beta-defensin 112;beta-defensin 12;defensin, beta 12 protein-coding ENSG00000180872 18093 18757 PROVISIONAL 1351953 DEFB115 defensin, beta 115 20 20 20 q11.1 26601734 26603702 + 29309128 29311096 + 29845467 29847435 + 6480464 16033865;11854508;11780052 245929 Q30KQ5 ABBA01019310;AL121723;AMYH01011828;DQ012019;NM_001037730 AAI52827;AAY59755;NP_001032819;Q30KQ5 Hs.580793 DEFB-15 OTTHUMP00000214703;beta-defensin 115;beta-defensin 15;defensin, beta 15 protein-coding ENSG00000215547 18096 PROVISIONAL 1344787 DEFB116 defensin, beta 116 20 20 20 q11.21 26647281 26652654 - 29354676 29360049 - 29891015 29896388 - 6480464 11780052;16033865;11854508 245930 Q30KQ4 ABBA01019310;AL031650;AMYH01011828;DQ012020;NM_001037731 AAI48546;AAI53135;AAY59756;NP_001032820;Q30KQ4 Hs.580703 DEFB-16 OTTHUMP00000214704;beta-defensin 116;beta-defensin 16;defensin, beta 16 protein-coding ENSG00000215545 18097 PROVISIONAL 1348589 DEFB114 defensin, beta 114 6 6 6 p12.3 51484077 51487890 - 50035964 50039777 - 49928005 49931818 - 16033865;11854508;20379614;23482568 245928 Q30KQ6 ABBA01050582;AL138879;AMYH01016340;AY122470;DQ012018;NM_001037499 AAI56852;AAM93912;AAY59754;NP_001032588;Q30KQ6 Hs.381372 DEFB-14;DEFB14 OTTHUMP00000217777;beta-defensin 114;beta-defensin 14;defensin, beta 14 protein-coding ENSG00000177684 18095 18758 615243 PROVISIONAL 1343991 DEFB107A defensin, beta 107A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7706652 7710648 - 7669242 7673238 - 1580863 16033865;15727258;15588320;12916016;12734011;12477932;12193721;11854508 245910 Q8IZN7 AC084121;AF540979;AMYH01018368;AY122467;BC137510;BC137513;DQ119826;NM_001037668 AAI37511;AAI37514;AAM93909;AAN33115;AAZ81951;NP_001032757;Q8IZN7 Hs.520874;Hs.713490 BD-7;DEFB-7;DEFB107;DEFB107B OTTHUMP00000195978;beta-defensin 107;beta-defensin 7;defensin, beta 7 APPROVED protein-coding ENSG00000186572 18086 REVIEWED 1347359 DEFB106A defensin, beta 106A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7720104 7723985 + 7682694 7686575 + 1580863 11854508;16033865;15727258;15588320;15489334;12916016;12734011;12600824;12477932;12193721;19194307 245909 Q8N104 AB089181;AC084121;AF529417;AF540978;AMYH01018375;AY122466;BC100844;BC100845;BC100846;BC100847;BC110062;BC111688;NM_152251 AAI00845;AAI00846;AAI00847;AAI00848;AAI10063;AAI11689;AAI41478;AAM93908;AAN33114;AAQ09526;BAC10631;NP_689464;Q8N104 Hs.511958;Hs.535925 BD-6;DEFB-6;DEFB106;DEFB106B;MGC118938;MGC118939;MGC118940;MGC118941;MGC133011;MGC133012 OTTHUMP00000195977;beta-defensin 106;beta-defensin 6;defensin, beta 106;defensin, beta 6 APPROVED protein-coding ENSG00000186579 18088 10872 REVIEWED 1352229 DEFB117 defensin, beta 117 20 20 q11.21 26695439 26704953 + 29939174 29948706 + 16033865;11854508 245931 Q30KQ3 AL031650;DQ012021;NG_032981;XM_002343728;XM_002345410 AAY59757;XP_002343769;XP_002345451 Hs.580702 DEFB-17 defensin, beta 117;defensin, beta 17 pseudo 18098 INFERRED 1354400 DEFB122 defensin, beta 122 (pseudogene) 20 20 20 q11.21 26759295 26773216 + 29466712 29480644 + 30009242 30016983 - 15772680;11854508 245935 ABBA01019310;AL121751;AMYH01011828;AMYH01011829;AY122474;NR_045677 Hs.526624 1651319 Z94518 DEFB-22;DEFB122P pseudo ENSG00000204547 18102 VALIDATED 1352811 DEFB104A defensin, beta 104A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Jul 2008] 8 8 p23.1 7731403 7736174 + 7693993 7698764 + 1580863 18515986;16033865;15820309;15727258;15588320;15489334;12916016;12734011;12477932;12193721;11854508;11481241;20526896;19194307;19809410;20128731;20483368;20039881;20720450;20445567;21385545;21879330 140596 Q8WTQ1 ABBA01152677;AC084121;AC130365;AJ314834;AJ314835;AMYH01018379;AMYH01018380;BC100848;BC100849;BC100850;BC100851;NG_033023;NM_080389 AAI00849;AAI00850;AAI00851;AAI00852;AAI60154;CAC85511;CAC85520;NP_525128;Q8WTQ1 Hs.559507;Hs.742246 BD-4;DEFB-4;DEFB104;DEFB104B;DEFB4;MGC118942;MGC118944;MGC118945;hBD-4 OTTHUMP00000195979;beta-defensin 104;beta-defensin 4;defensin, beta 104;defensin, beta 4 APPROVED protein-coding ENSG00000176782 18115 10870 REVIEWED 1347867 DEFB124 defensin, beta 124 20 20 20 q11.1 26809503 26817010 - 29516970 29524477 - 30053309 30060816 - 1580863;6480464 16033865;11854508;11780052 245937 Q8NES8 ABBA01019310;AL121751;AMYH01011829;AY122476;DQ119827;NM_001037500 AAI56854;AAM93917;AAZ81952;NP_001032589;Q8NES8 Hs.381373 DEFB-24 OTTHUMP00000214717;beta-defensin 124;beta-defensin 24;defensin, beta 24 protein-coding ENSG00000180383 18104 18759 PROVISIONAL 2311618 DEFB109P1B defensin, beta 109, pseudogene 1B 8 8 p23.1 7157777 7164882 + 7170368 7177473 + 16033865;12477932 641517 Q30KR1 AF228730;DQ012013;NR_003668 AAI41502;AAI48782;AAY59749 Hs.616079 DEF109P1B;DEFB109 pseudo ENSG00000206034 33469 PROVISIONAL 1348391 DEFB110 defensin, beta 110 locus 6 6 6 p12.3 51532925 51545769 - 50084810 50097607 - 49976851 49989694 - 16033865;11854508;12477932 245913 Q30KQ9 ABBA01050581;AL138879;AMYH01016340;DQ012014;DQ012015;NM_001037497;NM_001037728 AAI41479;AAI48542;AAI48764;AAI56745;AAY59750;AAY59751;NP_001032586;NP_001032817;Q30KQ9 Hs.571093 DEFB-10;DEFB-11;DEFB111;MGC183056;MGC190230 OTTHUMP00000217775;OTTHUMP00000217776;beta-defensin 10;beta-defensin 11;beta-defensin 110;beta-defensin 111;defensin, beta 10 APPROVED protein-coding ENSG00000203970 18091 VALIDATED 1344288 DEFB121 defensin, beta 121 20 20 20 q11.1 26748893 26756886 - 29456361 29457651 - 29992648 30000641 - 15772680;11854508;11780052;12477932 245934 Q5GRF9;Q5J5C9 ABBA01019310;AF479700;AI476463;AL121751;AMYH01011828;AY501000;BC130607;BC130609;NM_001011878;NM_001171832 AAI30608;AAI30610;AAQ05839;AAS87294;ADR82785;NP_001011878;NP_001165303;Q5J5C9 Hs.272294 DEFB-21;ESC42-RELC;ESC42RELC OTTHUMP00000214706;beta-defensin 121;beta-defensin 21;defensin, beta 21 protein-coding ENSG00000204548 18101 16791 VALIDATED 1351372 DEFB123 defensin, beta 123 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. [provided by RefSeq, Jul 2008] 20 20 20 q11.1 26784635 26794282 + 29492072 29501721 + 30028411 30038060 + 1580863 12975309;12477932;11854508;11780052 245936 Q5GRF8;Q8N688 ABBA01019310;AF479701;AL121751;AMYH01011829;AY122475;AY358859;BC126365;BC126391;CH471077;NM_153324 AAI26366;AAI26392;AAM93916;AAQ05840;AAQ89218;EAW76445;EAW76446;NP_697019;Q8N688 Hs.122509 1697092 RH102028 DEFB-23;ESC42-RELD OTTHUMP00000030522;beta defensin 23;beta-defensin 123;beta-defensin 23;specific to testis and epididymis APPROVED protein-coding ENSG00000180424 18103 10874 REVIEWED 1342634 DEFB125 defensin, beta 125 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 163193 172141 + 16351 25296 + 68351 77296 + 1580863;6480464 12620395;11854508;11780052;12477932 245938 Q8N687 AA935636;ABBA01053738;AF525927;AK311802;AL360078;AMYH01011649;AY122477;BC128195;BC128196;CH471133;CS072337;NM_153325 AAI28196;AAI28197;AAM93918;AAP47220;BAG34745;CAI93475;EAX10689;NP_697020;Q8N687 Hs.380220 DEFB-25;MGC57449 OTTHUMP00000029897;beta defensin 25;beta-defensin 125;beta-defensin 25 APPROVED protein-coding 18105 REVIEWED 1350712 DEFB130 defensin, beta 130 8 8 8 p23.1 11058158 11065484 - 12212843 12220196 - 12168471 12175825 - 16033865;11854508 245940 Q30KQ2 ABBA01026873;AC144830;AC232308;AMYH01018523;DQ012022;NM_001037804 AAI48524;AAI53119;AAY59758;NP_001032893;Q30KQ2 Hs.581979 DEFB-30;DEFB130L OTTHUMP00000213367;beta-defensin 130;beta-defensin 30;defensin, beta 30 protein-coding ENSG00000232948 18107 PROVISIONAL 1606419 DEFB119 defensin, beta 119 This gene encodes a member of a family of small secreted proteins. These proteins participate in immune defense against microbial infection. This gene is located in a cluster of similar genes on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 20 20 20 q11.21 26721214 26734651 - 29428628 29442067 - 29964966 29978452 - 6480464 15489334;12975309;12477932;12128228;11854508;11790538;11786250;11780052;19423540;20406964;20438785;16710608 245932 Q5GRG0;Q8N690 ABBA01019310;AF479698;AF479699;AL031650;AL121751;AL732301;AMYH01011828;AY122472;AY122473;AY358860;AY501001;BC062212;BI460707;BU561156;CH471077;HY035342;NM_001271209;NM_153289;NM_153323;NR_073151;NR_073152;NR_073153 AAH62212;AAM93914;AAM93915;AAQ05837;AAQ05838;AAQ89219;AAS87295;EAW76448;EAW76449;EAW76450;EAW76451;NP_001258138;NP_695021;NP_697018;Q8N690 Hs.516998;Hs.743655 1685285;2167340 RH66091;SHGC-31330 DEFB-19;DEFB-20;DEFB120;ESC42-RELA;ESC42-RELB;MGC71893 OTTHUMP00000030520;OTTHUMP00000030523;OTTHUMP00000030524;beta-defensin 119;beta-defensin 120;beta-defensin 19;beta-defensin 20;defensin, beta 120;defensin, beta 19;defensin, beta 20 APPROVED protein-coding ENSG00000180483 18099 10873 REVIEWED 1343807 DEFB132P defensin, beta 132, pseudogene 245942 18109 1344518 DEFB118 defensin, beta 118 This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Dec 2010] 20 20 20 q11.21 26712675 26717411 + 29420089 29424825 + 29956421 29961726 + 1580863 11564719;10588992;15489334;15033915;12600824;12477932;11854508;11780052;19423540;20237496;20406964;20438785;15755028 117285 Q96PH6 ABBA01019310;AF347073;AF529415;AL031650;AMYH01011828;AY122471;BC035677;BC117378;CH471077;NM_054112 AAI17379;AAL27987;AAM93913;AAQ09524;ADR83460;EAW76452;EAW76453;NP_473453;Q96PH6 Hs.274124 C20orf63;DEFB-18;ESC42;ESP13.6;dJ1018D12.3 ESP13.6;OTTHUMP00000030515;beta-defensin 118;beta-defensin 18;defensin, beta 18;epididymal secretory protein 13.6;epididymus specific clone 42 APPROVED protein-coding ENSG00000131068 16196 09629 607650 REVIEWED 1343551 DEFB131 defensin, beta 131 4 4 4 p16.1 9950821 9956935 + 9055358 9061338 + 9446260 9452240 + 6480464 12600824;16033865;11854508 644414 P59861 ABBA01032500;AC116655;AF529414;AMYH01013985;NM_001040448 AAI60155;AAQ09523;NP_001035538;P59861 Hs.590200 DEFB-31 OTTHUMP00000217752;beta-defensin 131;beta-defensin 31;defensin, beta 31 protein-coding ENSG00000186146 18108 VALIDATED 1348474 DEFB133 defensin, beta 133 6 6 p12.3 51469884 51473228 - 49913814 49917157 - 6480464 16033865 403339 Q30KQ1 ABBA01050583;AL356586;AMYH01016340;AY621330;DQ012023;NM_001166478 AAT51869;AAY59759;NP_001159950;Q30KQ1 Hs.558270 1785984;2125476 RH37397;SHGC-154126 beta-defensin 133 protein-coding ENSG00000214643 31331 VALIDATED 2307454 DEFB135 defensin, beta 135 8 8 8 p23.1 10969157 10971459 + 11877239 11879508 + 11839830 11842099 + 16033865;11854508 613209 Q30KP9 ABBA01026875;AC107918;AMYH01018483;AY621332;DQ012025;NM_001033017 AAI40267;AAI46564;AAT51871;AAY59761;NP_001028189;Q30KP9 Hs.558284 2151175 D8S2061 DEFB136 OTTHUMP00000213326;beta-defensin 135;beta-defensin 136 protein-coding ENSG00000205883 32400 PROVISIONAL 2307453 DEFB136 defensin, beta 136 8 8 8 p23.1 10960843 10961505 - 11868855 11869517 - 11831446 11832108 - 6480464 16033865;11854508 613210 Q30KP8 ABBA01026875;AC107918;AMYH01018483;AY621333;DQ012026;NM_001033018 AAI48538;AAI53130;AAT51872;AAY59762;NP_001028190;Q30KP8 Hs.558285 1336611 D8S1130 DEFB137 OTTHUMP00000213327;beta-defensin 136;beta-defensin 137 protein-coding ENSG00000205884 34433 PROVISIONAL 1352295 DEFB128 defensin, beta 128 20 20 20 p13 263359 265096 - 116527 118264 - 168527 170264 - 16033865;11854508;12477932;23251661 245939 Q7Z7B8 ABBA01053742;AF525930;AL360078;AMYH01011650;BC140936;NM_001037732 AAI40937;AAP47223;NP_001032821;Q7Z7B8 Hs.516818 DEFB-28;DEFB28;hBD-28 OTTHUMP00000040040;beta-defensin 128;beta-defensin 28;defensin, beta 28 protein-coding 18106 PROVISIONAL 1352735 DEFB126 defensin, beta 126 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Jul 2013] 20 20 20 p13 218098 221236 + 71252 74392 + 123252 126392 + 1580863;6480464 15489334;12620395;12477932;11854508;11780052;10491631;8125298;19423540;20406964;20438785;21775668;22710670 81623 Q9BYW3 AA400429;ABBA01053739;AF525928;AJ236910;AK225987;AL360078;AMYH01011650;AY122478;BX108307;CH471133;HC006906;HC044553;NM_030931 AAM93919;AAP47221;CAC27121;CBH19258;CBH30606;EAX10688;NP_112193;Q9BYW3 Hs.124211 1698526 RH102814 C20orf8;DEFB-26;DEFB26;ESP13.2;bA530N10.1;hBD-26 OTTHUMP00000029899;beta defensin 26;beta-defensin 126;beta-defensin 26;epididymal secretory protein 13.2;epididymal secretory protein ESP13.2 APPROVED protein-coding 15900 10876 REVIEWED 1342800 DEFB50 defensin beta 50 14659016 492317 AY387658 23165 1345729 DEFQ2P defensin, theta 2, pseudogene 449487 30474 1625102 DEFB4B defensin, beta 4B 8 8 p23.1 7259788 7261795 - 7272385 7274354 - 6480464 10737800 100289462 O15263 AC130360;AMYH01018319;BE714502;BE714509;NM_001205266 NP_001192195 Hs.740237 DEFB4P OTTHUMP00000223096;beta-defensin 4B;defensin, beta 4, pseudogene;defensin, beta 4B APPROVED protein-coding ENSG00000177257 30193 VALIDATED 1353061 DEFQ3P defensin, theta 3, pseudogene 449480 17250 1346985 DEFQ4P defensin, theta 4, pseudogene 449485 26298 1350843 DEFQ5P defensin, theta 5, pseudogene 449479 17248 1348526 DEFQ6P defensin, theta 6, pseudogene 449486 26603 1343760 DEFB127 defensin, beta 127 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 233022 234638 + 86186 87804 + 138186 139804 + 1580863 15340161;10588992;15489334;12975309;12620395;12477932;11854508;11780052;21145461;17207965;19423540;20237496;20406964;20438785 140850 Q14DW6;Q9H1M4 AA454191;ABBA01053739;AF525929;AL360078;AMYH01011650;AY122479;AY358796;BC069486;BC109395;BC110085;CH471133;NM_139074 AAH69486;AAI09396;AAI10086;AAM93920;AAP47222;AAQ89156;ADQ32947;EAX10687;NP_620713;Q9H1M4 Hs.99362 5492457 UniSTS:481120 C20orf73;DEF-27;DEFB-27;DEFB27;bA530N10.2;hBD-27 OTTHUMP00000029900;beta defensin 27;beta-defensin 127;beta-defensin 27 APPROVED protein-coding ENSG00000088782 16206 10877 REVIEWED 2302256 DEFB134 defensin, beta 134 8 8 8 p23.1 10980841 10983113 - 11888898 11891169 - 11851489 11853760 - 16033865;12477932 613211 Q4QY38 ABBA01026875;AC107918;AMYH01018483;AY621331;BC130461;BC130463;CH471157;DQ012024;NM_001033019 AAI30462;AAI30464;AAT51870;AAY59760;ADR82792;EAW65639;NP_001028191;Q4QY38 Hs.631852 MGC163333;MGC163335 OTTHUMP00000213325;OTTHUMP00000229351;beta-defensin 134;beta-defensin 135 protein-coding 32399 PROVISIONAL 1605783 DEFB132 defensin, beta 132 20 20 20 p13 333214 336578 + 186377 189735 + 238377 241737 + 6480464 18416833;18390568;18343807;12975309;12620395;12477932;11780052 400830 Q7Z7B7 ABBA01053744;AF525932;AL034548;AMYH01011650;AY358708;AY621329;BC137292;BC137293;BE044548;EF426755;NM_207469 AAI37293;AAI37294;AAP47225;AAQ89071;AAT51868;ABR09864;NP_997352;Q7Z7B7 Hs.516819 2106739 UNQ827__5020 DEFB32;UNQ827 BD-32;DEFB-32;KFLL827;OTTHUMP00000040044;RP5-1103G7.6;beta-defensin 132;beta-defensin 32;defensin HEL-75;defensin, beta 32 protein-coding ENSG00000186458 33806 16792 VALIDATED 1347595 DEFB129 defensin, beta 129 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Jul 2008] 20 20 20 p13 302755 305357 + 155925 158527 + 207899 210527 + 1580863;6480464 15489334;12975309;12620395;12600824;12477932;11854508;11780052;17207965 140881 Q9H1M3 ABBA01053743;AF525931;AF529413;AI217663;AL360078;AMYH01011650;AY122480;AY358186;BC070359;CH471133;HC006908;HC044701;NM_080831 AAH70359;AAM93921;AAP47224;AAQ09522;AAQ88553;ADQ32085;CBH19259;CBH30680;EAX10686;NP_543021;Q9H1M3 Hs.112087 1698774;2217248 DEFB129_3641;RH102950 C20orf87;DEFB-29;DEFB29;bA530N10.3;hBD-29 OTTHUMP00000029901;beta defensin 29;beta-defensin 129;beta-defensin 29 APPROVED protein-coding 16218 10878 REVIEWED 2312704 DEFT1P2 defensin, theta 1 pseudogene 2 8 8 p23.1 6864031 6867111 - 6863803 6866346 - 17214878;15944200;11854483;12477932 100287083 AF238378;AF355799;BC069283;NR_036687 AAL82194 Hs.681792;Hs.690009 pseudo ENSG00000232039 33599 VALIDATED 1347186 DEFT1P defensin, theta 1 pseudogene 8 p23.1 6844700 6847243 - 15588320;15019196;12477932;11854483;11790538;11786250;10521339;20305815;21734341 170949 Q8TEZ3 ABBA01012421;AF233439;AF355799;BC069283;NR_036686;U10267 AAL82194 Hs.681792;Hs.690009 DEFQ1;DEFT1 defensin, theta 1 pseudo ENSG00000215378 18339 VALIDATED 1352357 DEGS2 delta(4)-desaturase, sphingolipid 2 This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008] 14 14 14 q32.2 80667585 80680837 - 99682509 99695712 - 100612753 100626012 - 6480464;6907045 16341674;15063729;12477932;21658281;20677014;21914808 123099 G3V2F9;Q6QHC5 ABBA01048540;AI380009;AL133523;AMYH01006003;AY541700;BC063598;BM789564;CH471061;NM_206918 AAH63598;AAS68362;EAW81688;NP_996801;Q6QHC5 Hs.159643 1336903;1769206 D14S1426;RH47801 C14orf66;DES2;FADS8 OTTHUMP00000246363;degenerative spermatocyte homolog 2, lipid desaturase;sphingolipid C4-hydroxylase/delta 4-desaturase;sphingolipid delta 4 desaturase/C-4 hydroxylase;sphingolipid delta(4)-desaturase 2;sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 APPROVED protein-coding 20113 13134 610862 REVIEWED 1348794 DEFB4A defensin, beta 4A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008] 8 8 p23.1 7789609 7791647 + 7752199 7754237 + 1580863;4892265;4892267;4892264;4892266;4892261;4892262;6480464 11934727;9843998;15034083;10213993;11296379;17000097 15004048;10404637;19554343;10521347;19412702;19266104;19233848;19212651;19212650;19194307;19172136;19121950;19063971;19056110;18641349;18635180;18627502;18603327;18578886;18566581;18556347;18452706;18449938;18371140;18362142;18059266;17986621;17928537;17922409;17760820;17415576;17403538;17392834;17298411;17283097;17254301;17000004;16909382;16762333;16741514;16433908;16417227;16319062;16269090;16242370;16219107;16201312;16201065;16097044;16034119;15985221;15829297;15820309;15727258;15661923;15547668;15529375;15502724;15489334;15385474;15382127;15240151;15161058;15013761;14963722;14760942;14714554;14703118;14688115;12958190;12892899;12832046;12821122;12710950;12612195;12537649;12522054;12519391;12489997;12488564;12477932;12421237;12411706;12395153;12389997;12381917;12183584;12174890;12063167;12010514;11934878;11751976;11741980;11728477;11714914;11714836;11453504;11442756;11005092;10906336;10837369;10603376;10456937;14981906;20154223;22450687;10338476;9831658;9825219;9727055;9202117;20618959;20720450;20229195;18601854;19249126;19617917;19702947;19735472;19760202;19809410;19819163;19948723;20006664;20023216;20032992;20068036;20128731;20231411;20378733;20483750;22444247;22902431;23548528;21105373;20724351;20634980;21062008;20653851;20980773;21178014;21394999;21270758;21328884;22209221;19141978;21280982;21383053;20819126;21122132;20629326;19080508;22739795;21529380;21834467;22500651;20848773;21520074;21132301;21248725;20095493;21385545;21843332;20647256;21956461;21631237;22093109;22137028;22302058;21913811;22384213;22296408;22438960;22386945;22860513;22837109;20650771;22761444;22050386;22537555;22391815;22742591 1673 O15263 ABBA01156881;AC130365;AF040153;AF071216;AJ000152;AMYH01018392;BC069285;BC093983;BC093985;NG_023301;NM_004942;Z71389 AAC33549;AAC69554;AAH69285;AAH93983;AAH93985;CAA95992;CAB65126;NP_004933;O15263 Hs.105924 BD-2;DEFB-2;DEFB102;DEFB2;DEFB4;DEFB4B;HBD-2;SAP1 BD-2;OTTHUMP00000159651;beta-defensin 2;beta-defensin 4A;defensin, beta 2;defensin, beta 4;skin-antimicrobial peptide 1 APPROVED protein-coding ENSG00000171711 2767 03739 602215 REVIEWED 1317405 DENND1A DENN/MADD domain containing 1A Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] 9 9 9 q33.3 96790158 97339675 - 125181754 125732238 - 126141933 126692417 - 737633;6480464 12477932 22504079;22547425;17081983;15489334;15164053;14702039;10997877;8125298;19913121;20583170;20628086;20691247;17182770;20154091;21151128;22902918;22180642;22885925;23208300;23049088 57706 Q6PJZ5;Q9HCG4 AB046828;ABBA01043727;ABBA01043728;ABBA01043729;ABBA01043730;ABBA01043731;ABBA01043732;ABBA01043733;ABBA01043734;ABBA01043735;ABBA01043736;ABBA01043737;AC006450;AK024782;AK074151;AK225104;AK295710;AK299867;AL158208;AL161790;AL390774;AL445489;AMYH01021699;AMYH01021700;BC009616;BC028061;BC039703;BK006958;CH471090;NM_020946;NM_024820 AAH09616;AAH28061;AAH39703;ADZ16024;BAB13434;BAB15002;BAB84977;BAH12164;BAH13155;DAA12500;EAW87569;EAW87570;EAW87571;EAW87572;EAW87573;EAW87574;EAW87575;NP_065997;NP_079096;Q8TEH3 Hs.744995 1662853;1677985;1680455;1680805;1695560;1701362;1704222;1721379;1770810;1772875;1786902;1787800;2126265;2144477;2147787;2187489;2187651 AFMb277xd5;D9S2029;G59691;RH104311;RH36501;RH45219;RH45992;RH76528;RH78231;RH94094;RH94250;SHGC-106899;SHGC-173239;SHGC-33874;SHGC-52447;SHGC-68745;SHGC-83135 FAM31A;FLJ38464;KIAA1608;RP11-230L22.3 DENN domain-containing protein 1A;OTTHUMP00000022089;OTTHUMP00000022090;OTTHUMP00000022091;connecdenn;connecdenn 1 APPROVED protein-coding ENSG00000119522 29324 17221 613633 VALIDATED 1345609 DENND1C DENN/MADD domain containing 1C Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] 19 19 19 p13.3 6407044 6421624 - 6418218 6432798 - 6467218 6481798 - 737633;6480464 12477932 14702039;20154091;8125298;21832049;19322201;22072793 79958 K7EKL5;K7EM30;K7EM80;K7EMN9;K7ENM0;Q8IV53 AA521476;ABBA01051456;AC010503;AK026410;AK055820;AK225623;AK303226;AK303509;AL713770;AL834293;AMYH01009373;BC033437;BK006959;BX647304;CH471139;NM_024898 AAH33437;BAB15475;BAG51578;BAG64313;BAH13977;CAD38966;DAA12501;EAW69080;EAW69081;EAW69082;NP_079174;Q8IV53 Hs.236449 2160977;2167472;2218432 CRB3_4634;L18003;STS-N23258 FAM31C;FLJ22757 DENN domain-containing protein 1C;connecdenn 3;family with sequence similarity 31, member C APPROVED protein-coding ENSG00000205744 26225 13304 613634 VALIDATED 1318210 DENND1B DENN/MADD domain containing 1B Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010] 1 1 1 q31.3 170644089 170867541 - 195788008 196010947 - 197473878 197744623 - 737633;6480464 12477932 16344560;14702039;11181995;20032318;20154091;21102463;15342556;20816195;21399635;22977732;22065758;23128233 163486 B3KR95;B7ZBL5;Q8NDT1 ABBA01027587;ABBA01027588;ABBA01027589;ABBA01027590;AI692985;AK000061;AK024832;AK091207;AK093982;AL139136;AL365258;AL831839;AMYH01001622;AMYH01001623;AMYH01001624;AMYH01001625;BC016588;BC022561;BC063456;BC063877;BC074735;BK006960;BP220095;CH471067;DA495773;H19092;NM_001195215;NM_001195216;NM_144977 AAH16588;AAH22561;AAH63877;AAH74735;ABM83324;ABM86539;BAA90918;BAB15024;BAG52307;CAD38548;DAA12502;EAW91278;EAW91279;EAW91280;EAW91281;EAW91282;EAW91283;EAW91284;EAW91285;NP_001182144;NP_001182145;NP_659414;Q6P3S1 Hs.125056;Hs.745032 1656166;1661488;1662001;1691890;1692404;1693468;1696366;1705074;1706848;1709580;1710160;1716305;1752435;1764369;1848932;2130251;2152882;2155075;2156307;2173880;2180053;2182360 AL009933;AL033850;AL033999;D1S1580;D1S2374;G22405;G34825;RH121182;SHGC-106387;SHGC-147965;SHGC-31318;SHGC-57388;SHGC-64057;SHGC-76078;SHGC-76089;SHGC-76091;SHGC-76092;SHGC-77813;SHGC-78059;SHGC-80906;SHGC-82341;SHGC-85144 C1ORF18;C1orf218;DKFZp547O0715;FAM31B;FLJ20054;FLJ21179;FLJ33888;MGC103810;MGC27044;RP11-53I24.2 DENN domain-containing protein 1B;OTTHUMP00000033671;OTTHUMP00000033672;OTTHUMP00000203406;OTTHUMP00000203407;connecdenn 2;family with sequence similarity 31, member B APPROVED protein-coding ENSG00000213047 28404 13303 613292 VALIDATED 1605117 DEGS1 delta(4)-desaturase, sphingolipid 1 This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010] 1 1 1 q42.11 197561861 197572073 + 222437551 222447766 + 224370910 224381143 + 6480464;6907045 9188692;17353931;17283068;12477932;11937514;20105137;17207965;21914808;16344560;21987572;21890473;21906983;22377532;21963094;21988832;23267130;22628619;22505724;22797925 8560 E7EMA0;O15121 ABBA01009709;AC092809;AF002668;AF466375;AK308232;AMYH01001766;AU126996;AY423730;BC000961;CH471098;NM_003676 AAB62238;AAH00961;AAM12531;AAS00493;ADQ32348;EAW69711;EAW69712;NP_003667;O15121 Hs.299878 1699652;2109229;2149309;2163982 DEGS_8831;RH103430;RH67833;SHGC-76416 DEGS;DEGS-1;DES1;Des-1;FADS7;MGC5079;MIG15;MLD OTTHUMP00000035598;cell migration-inducing gene 15 protein;degenerative spermatocyte homolog 1, lipid desaturase;degenerative spermatocyte homolog, lipid desaturase;dihydroceramide desaturase;membrane fatty acid (lipid) desaturase;membrane lipid desaturase;migration-inducing gene 15 protein;sphingolipid delta 4 desaturase;sphingolipid delta(4)-desaturase 1;sphingolipid delta(4)-desaturase DES1 APPROVED protein-coding ENSG00000143753 13709 13133 VALIDATED 1344276 DENND4B DENN/MADD domain containing 4B 1 1 1 q21 126973728 126990904 - 152168601 152185778 - 153901977 153919154 - 6480464 14702039;12906859;11181995;9455484;8325628;22903471 9909 E9PAK5;H0YEF0;O75064 AB007945;ABBA01049459;AK124049;AK129713;AK226053;AL358472;AL512734;AMYH01001409;CH471121;L10375;NM_014856 AAI67792;BAA32321;EAW53268;EAW53269;NP_055671;O75064 Hs.632480 1643712;1732305;1788660;1850896;5014019;5015404;5017433;5020946;5020948;5022578;5024413;5118087 D1S1423;D1S961E;D5S2354;G35510;G64270;L17705;L17877;L17971;RH12271;RH12462;RH18158;STS-T76997 DKFZp762N174;FLJ26202;KIAA0476 DENN domain-containing protein 4B;OTTHUMP00000035257;OTTHUMP00000231789 protein-coding ENSG00000198837 29044 VALIDATED 1349075 DEK DEK oncogene This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 p22.3 18332379 18372778 - 18224400 18264799 - 1580863;6480464 12140263;9050861;19229864;19223548;19036808;18477217;18332104;18227428;17685435;17524367;17081983;17030615;16894028;16829531;16809543;16721057;16696975;16461319;16344560;16254365;16180235;16007192;15987677;15908448;15766865;15722484;15692740;15593216;15563827;15489334;15238633;15199154;15199153;15146197;14738146;14627833;14574404;12595566;12483538;12477932;12388720;12031912;11997399;11333257;11118221;11058868;10908574;10837023;9952027;9704652;9684994;9058666;8910362;1549122;1308167;21145461;21319273;22242598;22474248;11546874;20501624;20543864;17158748;17643375;19563407;19679545;20040570;20215548;20669926;16603771;21280010;21460035;21182205;22863883;22990118;22113938;23000965;23052131;23071688;23569252;21316078;21663673;21317931;22939629;21653549;22360505;21110914;22390170;19471022;21139048;21693764;21890473;21906983;21907836;22145905;17361185;19322201;21943234;22765016 7913 B4DFG0;D6R9L5;D6RDA2;H0Y8X0;H0Y993;P35659 ABBA01022234;ABBA01022235;AJ270688;AJ420539;AK294079;AK297749;AK298089;AK312616;AL031774;AMYH01016122;AU131262;BC012442;BC035259;BQ574048;BX641063;CH471087;CN388433;NM_001134709;NM_003472;X64229 AAH35259;ABZ92195;BAG35503;BAG57421;BAG60099;BAG60375;CAA45536;CAE46031;EAW55402;EAW55403;NP_001128181;NP_003463;P35659 Hs.484813 1674510;1849128;2114892;2120184;2176573;2176649 D6S2051;RH46609;SHGC-35904;SHGC-36399;STS-X64229;WI-19135 D6S231E DEK oncogene (DNA binding);OTTHUMP00000016078;OTTHUMP00000221544;OTTHUMP00000221545;protein DEK APPROVED protein-coding ENSG00000124795 2768 00503 125264 REVIEWED 1349929 DENND4A DENN/MADD domain containing 4A 15 15 15 q22.31 42830783 42962381 - 63741169 63871516 - 65952954 66084631 - 737633;1580863;6480464 12477932 8056341;17353931;15489334;15324660;14702039;12906859;12080043;20211142;12938929;21139048;21906983;17979178;23222517 10260 H3BSA0;H3BTW5;Q05C90;Q7Z401 ABBA01038840;ABBA01038841;ABBA01038842;ABBA01038843;ABBA01038844;ABBA01038845;AC011939;AF534403;AK091268;AK091368;AK290292;AK299570;AK307411;AL832602;AL833317;AL833384;AMYH01006719;BC028057;BC041706;CH471082;NM_001144823;NM_005848;X63417 AAH28057;AAH41706;AAQ10514;ABZ92395;BAC03648;BAF82981;BAH13069;CAA45013;CAD89960;EAW77745;NP_001138295;NP_005839;Q7Z401 Hs.654567 1341891;1730333;1759699;1782046;1855788;2107231;2130898;2158101;2191207 A003P32;A007D12;D15S1020;D15S141E;IRLB__7454;MARC_16169-16170:1018630743:1;RH44519;SHGC-151256;SHGC-152522 FLJ33949;IRLB;KIAA0476;MYCPBP C-myc promoter-binding protein;DENN domain-containing protein 4A;c-myc promoter binding protein protein-coding ENSG00000174485 24321 02662 600382 VALIDATED 1314588 DENND2A DENN/MADD domain containing 2A 7 7 7 q34 134940274 135024392 - 139864689 139948811 - 140218220 140302342 - 6480464 16344560;15489334;12477932;10574462;20379614;20395239 27147 C9IY76;C9IYZ8;C9JAA0;C9JD15;F8WAT8;H7C5K8;Q9ULE3 AACC02000020;AB033103;ABBA01034076;ABBA01034077;ABBA01034078;ABBA01034079;AC006452;AC069335;AK290056;AK297959;AMYH01017989;AMYH01017990;AMYH01017991;BC049193;BC115004;BC132875;BC144190;CH236950;CH471070;DA401015;NM_015689 AAH49193;AAI15005;AAI32876;BAA86591;BAF82745;BAG60271;EAW83954;NP_056504;Q9ULE3 Hs.6385 1655039;5015861;5022450;5022651;5024761;5037552;5109281;5115350;7185938 D10S16;D10S275;D11S2921;D1S1425;D8S2279;IB3120;RH36905;STS-W87388 FAM31D;KIAA1277 DENN domain-containing protein 2A;OTTHUMP00000212108;OTTHUMP00000212109;OTTHUMP00000212110;OTTHUMP00000212111 protein-coding ENSG00000146966 22212 17210 VALIDATED 1604979 DENND2C DENN/MADD domain containing 2C 1 1 1 p13.2 113356432 113441993 - 114928719 115014255 - 115127196 115212732 - 6480464 16710414;16344560;15489334;14702039;12477932 163259 C9JPG4;Q68D51 ABBA01068464;ABBA01068465;ABBA01068466;ABBA01068467;AK094418;AK124287;AK308302;AL096773;AL133382;AL390241;AMYH01000966;BX647950;BX649075;CH471122;CR749576;DB071246;NM_001256404;NM_198459 ACE86694;ACE86695;ACE87378;ACE87379;CAH18369;EAW56605;NP_001243333;NP_940861;Q68D51 Hs.654928 1335786;1691912;1767041;2127462;2190561;5016596;5022651;5024761;7183198;7183200 AL033618;D11S2921;D1S250;EST28B4;GDB:631802;RH36905;SHGC-152684;SHGC-75354 DKFZp686G0351;DKFZp686N1631;DKFZp779P1149;FLJ37099;RP5-1156J9.1;dJ1156J9.1 DENN domain-containing protein 2C;OTTHUMP00000013667;OTTHUMP00000195671 protein-coding 24748 13425 VALIDATED 1605083 DENND3 DENN/MADD domain containing 3 8 8 8 q24.3 138306916 138374104 + 142207902 142275083 + 142138720 142205901 + 6480464 14702039;12477932;10737800;10048485;11278422;21502966;20379614;21890473;21906983;23251661 22898 A2RUS2;B3KRG7;E5RH95;E5RHH2;E5RI43;E5RIR7;E5RJ42;E9PF32;H0YAW2;H0YAY3;H0YBH5;H0YBK9 AB020677;ABBA01013683;AC040970;AK057136;AK058001;AK091556;AK123283;AK125506;AK131505;AL110264;AL544320;AMYH01019071;AW500126;BC110827;BC133023;BC144226;BF898211;CB989310;CH471060;NM_014957 A2RUS2;AAI33024;AAI44227;BAA74893;BAB71630;BAD18649;BAG52379;EAW92216;EAW92217;EAW92218;EAW92219;EAW92220;NP_055772 Hs.18166 1645229;1776196;1852004;1854265;2141513;2141845;2144430;5015961;5019070;5037552 D15S1477;D8S2279;G09322;G29698;G44334;RH16164;RH16253;RH35806;RH48089;SGC33849 KIAA0870 DENN domain-containing protein 3;OTTHUMP00000227447;OTTHUMP00000227448 protein-coding ENSG00000105339 29134 11114 VALIDATED 6481086 DENND5B-AS1 DENND5B antisense RNA 1 12 31742857 31768285 + 16344560 100874249 ABBA01031746;ABBA01031747;AC022080;AMYH01004366;AMYH01004367;DA250246;NR_046909 Hs.627628 APPROVED miscrna ENSG00000255867 42517 VALIDATED 1602459 DENND2D DENN/MADD domain containing 2D 1 1 1 p13.3 109976779 109990260 - 111531324 111544804 - 111729801 111743281 - 6480464 16710414;15489334;14702039;12477932;18677770;17207965;22939629;22001757;15342556;20937701;23182661 79961 B4DWL2;Q9H6A0 ABBA01068396;AK026110;AK057181;AK301583;AL355816;AL713773;AMYH01000945;BC004557;BP270686;CH471122;DA916618;NM_001271833;NM_024901 AAH04557;ADQ32836;BAB15363;BAG63074;CAD28535;EAW56473;EAW56474;EAW56475;EAW56476;EAW56477;EAW56478;EAW56479;NP_001258762;NP_079177;Q9H6A0 Hs.557850 1667633;1692526;2163018;2175760;2179969;2184266 AL009389;AL009761;AL033915;RH16359;SHGC-35146;SHGC-75297 FLJ22457;RP5-1180E21.2 DENN domain-containing protein 2D;OTTHUMP00000014298;OTTHUMP00000014299;RP5-1180E21.2 protein-coding ENSG00000162777 26192 08655 615111 VALIDATED 1318285 DENND4C DENN/MADD domain containing 4C 9 9 9 p22.1 19216854 19300236 + 19280749 19364139 + 19230763 19374137 + 6480464 17081983;16964243;15164053;15146197;14702039;12906859;12477932;21454697;21139048;21890473;21906983;21963094 55667 B7Z660;Q9H6N4;R4GMN2;R4GN35;R4GNB2 ABBA01065196;ABBA01065197;ABBA01065198;ABBA01065199;ABBA01065200;ABBA01065201;ABBA01065202;ABBA01065203;AK000627;AK000693;AK001046;AK002020;AK025705;AK125842;AK127734;AK299842;AK302901;AL161909;AL391834;AL834521;AMYH01019269;BC144484;BC144485;CH471071;CN427691;CR627367;DV080471;HY106197;NM_017925;NR_073201 BAA91294;BAA91324;BAA91478;BAA92039;BAB15221;BAC86313;BAG54561;BAH13146;BAH13836;CAD39177;CAH10466;EAW58644;EAW58645;EAW58646;EAW58647;NP_060395;Q5VZ89 Hs.249591 1686578;1720683;1775887;2126050;5015961 D15S1477;G59157;RH47101;RH80524;WI-12519 C9orf55;C9orf55B;DKFZp686I09113;FLJ20686;bA513M16.3 DENN domain-containing protein 4C;DENN/MADD domain containing 4A pseudogene;OTTHUMP00000038918;chromosome 9 open reading frame 55 protein-coding ENSG00000137145 26079 12927 VALIDATED 1314052 DEPDC1B DEP domain containing 1B 5 5 5 q12.1 56833846 56936903 - 59928496 60031713 - 59892739 59995993 - 737633;1580863;6480464 12477932 14702039;20923822;22990118;21139048 55789 D6RDV9;D6RIB0;F5H072;Q8WUY9 AA830503;ABBA01015802;ABBA01015803;AC016591;AC109133;AF303178;AF488828;AF490257;AK001166;AK002114;AK290684;AK299242;AK300782;AMYH01015108;BC010904;BC019075;CH471123;DC299445;NM_001145208;NM_018369 AAH10904;AAH19075;AAN31126;AAO49477;AAO85465;BAA91529;BAA92089;BAF83373;BAG61273;BAG62446;EAW54998;NP_001138680;NP_060839;Q8WUY9 Hs.744118 1705466;1716975;1740401;1751727;1846991;1846993;2174320;5017811 A005U21;D5S2219E;DEPDC1B;G20508;RH121868;RH65040;SHGC-105711;SHGC-83818 BRCC3;FLJ11252;XTP1 DEP domain-containing protein 1B;HBV X-transactivated gene 8 protein;HBV XAg-transactivated protein 8;HBxAg transactivated protein 1;OTTHUMP00000122605;OTTHUMP00000221973;breast cancer cell 3 protein-coding ENSG00000035499 24902 16794 VALIDATED 1605273 DENND5B DENN/MADD domain containing 5B 12 12 12 p11.21 11356369 11566294 - 31426424 31635219 - 31535157 31743952 - 6480464 14702039;12477932;8889548;22939629;21906983 160518 F5H4A0;G3V1S3;H0YGE5;Q6ZUT9 AB209341;ABBA01031747;ABBA01031748;ABBA01031749;ABBA01031750;ABBA01031751;AC022080;AC068792;AF086301;AI762929;AI858532;AK021465;AK095598;AK123642;AK125323;AL137364;AL157581;AMYH01004364;AMYH01004365;AMYH01004366;BC020855;BC068580;BF513808;BM676905;BX537924;CH471116;CR749639;NM_144973 AAH20855;AAH68580;BAC04583;BAC86129;BAD92578;BAG53929;CAD97905;CAH18433;EAW88552;EAW88553;EAW88554;EAW88555;EAW88556;EAW88557;NP_659410;Q6ZUT9 Hs.118166 1338619;1648063;1654129;1684754;1689777;1698552;1724923;1726053;1726061;1726069;1726921;1739557;1769581;1771823;1779952;1857069;2120474;2136937;2139190;2140568;2169347;5014051;5024761;5037552 D12S1477;D12S1584;D12S1932;D5S2659;D8S2278;D8S2279;G62334;G62351;G62352;G62704;RH102828;RH119228;RH17963;RH36905;RH48070;RH65928;RH66496;RH92710;RH94231;SHGC-154199;SHGC-33611;SHGC-58057;STS-R37651;WI-21216 DKFZp686P1174;FLJ41648;FLJ43333;MGC24039 DENN domain-containing protein 5B;OTTHUMP00000239979;OTTHUMP00000239980;rab6IP1-like protein protein-coding ENSG00000170456 28338 11321 VALIDATED 2289757 DEPDC1P1 DEP domain containing 1 pseudogene 1 15 15 15 q13.3 8554009 8558228 + 29843630 29847775 - 32056304 32060522 - 730888 ABBA01038339;AC026951;AMYH01006503;NG_007041 pseudo 31125 INFERRED 2289760 DEPDC1P2 DEP domain containing 1 pseudogene 2 9 9 9 q31.2 79025468 79029125 + 107560188 107563807 + 108520329 108523986 + 100126446 ABBA01042813;AL592437;AMYH01021602;NG_007042;NG_032971 FLJ20483 pseudo 33975 INFERRED 1606682 DENND6A DENN/MADD domain containing 6A 3 3 3 p14.3 57624256 57692688 - 57586224 57653844 - 57611181 57678816 - 6480464 16344560;14702039;12477932;22595670;21906983;21330364 201627 H7C598;H7C5D0;Q8IWF6 AA605125;ABBA01024407;ABBA01024408;ABBA01024409;ABBA01024410;ABBA01024411;AC114480;AK074156;AK092288;AMYH01013223;BC040291;BC054343;CH471055;DB163127;NM_152678 AAH40291;AAH54343;ADZ16072;BAB84982;BAC03852;EAW65345;EAW65346;NP_689891;Q8IWF6 Hs.91085 1680603;1686628;1858331;2133096;5016596;5020242;5024039 D11S2612;D16S325;D3S4043;GDB:631802;RH92703;RH98190;SGC38198 AFI1A;FAM116A;FLJ34969 DENN domain-containing protein 6A;OTTHUMP00000213205;family with sequence similarity 116, member A;hypothetical protein LOC201627;protein DENND6A;protein FAM116A APPROVED protein-coding ENSG00000174839 26635 08756 VALIDATED 1315914 DEPDC1 DEP domain containing 1 1 1 1 p31.2 67230053 67253019 - 68713526 68735295 - 68939835 68962799 - 6480464 17452976;16344560;14702039;12477932;8125298;20379614;20587513;21139048;21906983;19322201;22318606 55635 E9PL61;H0YES2;Q5TB30 AB281187;AB281274;ABBA01074505;ABBA01074506;AJ278112;AK000361;AK000490;AK022792;AK225735;AK299324;AL138789;AL139413;AL834208;AMYH01000693;BC003511;BC011743;BC035506;BC041580;BC065304;CH471059;CS403022;CS403024;DB147703;GM983784;GM983786;NM_001114120;NM_017779 AAH03511;AAH65304;BAA91111;BAA91201;BAB14246;BAF91373;BAF91374;BAH13001;CAB92444;CAH10663;CAL40387;CAL40388;CAX21632;CAX21633;EAX06471;EAX06472;EAX06473;EAX06474;EAX06475;EAX06476;EAX06477;NP_001107592;NP_060249;Q5TB30 Hs.445098 DEP.8;DEPDC1-V2;DEPDC1A;FLJ20354;SDP35 5830484J08Rik;DEP domain-containing protein 1A;OTTHUMP00000010789;OTTHUMP00000010790;cell cycle control protein SDP35 protein-coding ENSG00000024526 22949 10879 612002 VALIDATED 1315561 DENND5A DENN/MADD domain containing 5A 11 11 11 p15.4 9282225 9408081 - 9116948 9243447 - 9160372 9286873 - 6480464 15489334;19141279;14702039;12477932;10470851;7782346;19762545;22939629;21900206;21906983;19322201;22558185 23258 B3KWN5;B4DFB6;E9PIS3;H0YCW5;H0YDE6;H0YDS8;H0YDV6;H0YE63;H0YEA8;Q6IQ26 AB029014;ABBA01061197;ABBA01061198;ABBA01061199;ABBA01061200;ABBA01061201;AC055845;AC079296;AK025499;AK026007;AK091148;AK125444;AK294016;AK295881;AK302478;AL117448;AMYH01003379;AMYH01003380;AP006259;BC005100;BC009354;BC018797;BC071596;BX401101;CH471064;DN999250;GN344099;NM_001243254;NM_015213 AAH09354;AAH71596;BAA83043;BAB15155;BAG54197;BAG57377;BAG58677;BAG63766;CAB55932;CAY55985;EAW68600;EAW68601;NP_001230183;NP_056028;Q6IQ26 Hs.501857 1645569;1666896;1721645;1762297;1764879;2111027;2146152;2146971;2171476;2186720 D11S1272E;D11S2377;D11S4413;D11S4422;D11S4704;G59833;RH18241;SHGC-146144;SHGC-148440;WI-14657 FLJ22354;FLJ33829;FLJ43455;KIAA1091;RAB6IP1 DENN domain-containing protein 5A;OTTHUMP00000230804;OTTHUMP00000230805;OTTHUMP00000230807;RAB6 interacting protein 1;rab6-interacting protein 1 protein-coding ENSG00000184014 19344 11475 VALIDATED 1606364 DENND6B DENN/MADD domain containing 6B 22 22 22 q13.33 34626857 34634095 - 49092964 49100010 - 50750392 50765489 - 6480464 12477932;8889548;15489334;14702039;21832049;21330364 414918 H0Y7N0;Q8NEG7 AA864612;ABBA01011386;AK054743;AMYH01012904;AMYH01012905;BC031069;BI758775;BM981037;BX363595;CH471138;CR559946;CR759740;CR861497;CR861498;CR932343;CR932344;CT009622;NM_001001794 AAH31069;CAO03304;CAO03484;CAO03524;CAO03525;CAO03578;CAO03579;CAO03620;CAO03621;EAW73528;EAW73529;NP_001001794;Q8NEG7 Hs.530380 AFI1B;FAM116B;MGC33692 DENN domain-containing protein 6B;OTTHUMP00000196617;family with sequence similarity 116, member B;protein DENND6B;protein FAM116B APPROVED protein-coding ENSG00000205593 32690 17526 VALIDATED 1351149 DENR density-regulated protein This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 122830180 122848763 + 121803324 121821906 + 123237371 123255953 + 1580863;6480464 17878526;15489334;12477932;10497265;9628587;16169070;16874301;17207965;22863883;22939629;19322201;21139048;21890473 8562 F8VVL1;O43583 AB014731;ABBA01060452;AC026331;AC027290;AF038554;AF103800;AI093093;AK299463;AMYH01004831;BC000925;BC007860;BG705827;BI871385;CH471054;NM_003677 AAC02985;AAF02420;AAH07860;ADQ31604;BAB20268;BAG61429;EAW98338;EAW98339;EAW98340;EAW98341;EAW98342;EAW98343;NP_003668;O43583 Hs.22393 1654998;2149457;5022450;5037552;5109281 D10S275;D12S1311;D1S1425;D8S2279;WI-20552 DRP;DRP1;SMAP-3 OTTHUMP00000239609;OTTHUMP00000239610;density-regulated protein;smooth muscle cell associated protein-3;smooth muscle cell-associated protein 3 APPROVED protein-coding ENSG00000139726 2769 05182 604550 REVIEWED 1602447 DEPDC7 DEP domain containing 7 11 11 11 p13 33184149 33201855 + 32993986 33011704 + 33037410 33055128 + 6480464 12477932;10568747;21987572;16009940 91614 Q96QD5 ABBA01060898;AC107939;AC131263;AF447588;AJ245600;AK294934;AK295960;AL121926;AMYH01003482;BC011446;BC030970;CH471064;NM_001077242;NM_139160 AAH30970;AAM22871;ABZ92082;BAG58012;BAG58740;CAB53247;CAC48255;EAW68212;EAW68213;NP_001070710;NP_631899;Q96QD5 Hs.280990 1336144;1676019;2113966;2129748 AB070065;CHLC.GATA82B04;D11S2370;RH99094 TR2;dJ85M6.4 DEP domain-containing protein 7;OTTHUMP00000232313;OTTHUMP00000232314;dJ85M6.4 (novel 58.3 KDA protein);novel 58.3 KDA protein protein-coding ENSG00000121690 29899 11280 612294 VALIDATED 1349120 DEPDC4 DEP domain containing 4 12 12 12 q23.1 100311307 100326123 - 99170172 99184988 - 100646041 100660857 - 1580863;6480464 14702039;12477932 120863 E9PGM3;H0YI71;H0YIL0;Q3ZCN8;Q8N2C3 ABBA01053259;ABBA01053260;ABBA01053261;AC026110;AK090824;AMYH01004696;BC015117;BC039480;BC100927;BC100928;BC100929;BC100930;CH471054;NM_152317 AAH15117;AAI00929;AAI00930;AAI00931;BAC03525;EAW97628;EAW97629;NP_689530;Q8N2C3 Hs.653118 1650044;2150690 D12S2127;D12S2146 DEP.4;FLJ33505 DEP domain-containing protein 4;OTTHUMP00000243479;OTTHUMP00000243481;OTTHUMP00000243485 protein-coding ENSG00000166153 22952 13136 PROVISIONAL 1344261 DEPTOR DEP domain containing MTOR-interacting protein 8 8 8 q24.12 117075022 117252280 + 120955146 121131939 + 120885900 121063157 + 1580863;6480464;6484113 19446321;11256614;16381901;16344560;15489336;14702039;12477932;11230166;11076863;8125298;22087225;22454292;20379614;20858096;21643629;23563706;21832049;22017875;22017876;22017877;22160218;21992080;20169205 64798 E7EV87;Q8TB45 ABBA01037826;ABBA01037827;ABBA01037828;ABBA01037829;ABBA01037830;ABBA01037831;ABBA01037832;AC091563;AK022403;AK022490;AK023916;AK225168;AK225675;AK297822;AK315175;AL136678;AMYH01018987;AMYH01018988;AMYH01018989;AMYH01018990;AP005717;BC012040;BC024746;CH471060;DA622978;NM_022783 AAH12040;AAH24746;BAB14054;BAB14723;BAG37616;BAG60159;CAB66613;CAL37454;CAL38211;EAW91997;NP_073620;Q8TB45 Hs.112981 1688821;1779890;2115885;2156894;2186927 D8S323;RH45620;RH48017;RH91937;SHGC-154090 DEP.6;DEPDC6;DKFZp564B1778;FLJ12341;FLJ12428;FLJ13854 DEP domain containing 6;DEP domain containing mTOR interacting protein;DEP domain-containing mTOR-interacting protein;DEP domain-containing protein 6;OTTHUMP00000228295;OTTHUMP00000228296 APPROVED protein-coding ENSG00000155792 22953 13137 612974 VALIDATED 1352250 DERA deoxyribose-phosphate aldolase (putative) 12 12 12 p12.3 21209100 21335267 + 15955453 16081582 + 16064186 16190315 + 1580863;6480464;6907045 9226884;17353931;12546782;12477932;10810093;8889548;8125298;20379614;22863883;22939629;21139048;21906983 51071 E9PJ44;E9PJB9;E9PMH9;E9PML7;E9PPK3;E9PPM8;G3V158;Q9Y315 ABBA01067895;ABBA01067896;ABBA01067897;AC022073;AF132960;AK024614;AK222541;AK296697;AK309182;AMYH01004304;BC041328;BC056234;CB851336;CH471094;NM_015954 AAD27735;AAH56234;AAI52914;BAD96261;BAG59291;EAW96357;EAW96358;EAW96359;NP_057038;Q9Y315 Hs.39429 1694474;1725955;1726073;1733600;1778069;1850942;1851400;2178895 D12S930;G42967;G62226;G62312;RH44596;RH44647;SGC34106;WI-17989 CGI-26;DEOC 2-deoxy-D-ribose 5-phosphate aldolase;2-deoxyribose-5-phosphate aldolase homolog;OTTHUMP00000230114;OTTHUMP00000230117;OTTHUMP00000230119;OTTHUMP00000230121;deoxyriboaldolase;deoxyribose-phosphate aldolase-like;phosphodeoxyriboaldolase;putative deoxyribose-phosphate aldolase APPROVED protein-coding ENSG00000023697 24269 13138 VALIDATED 1353725 DERL3 derlin 3 The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 22 22 22 q11.23 8015749 8020256 - 22506690 22511201 - 24176690 24181199 - 737633;1580863;6480464;6907045 12477932 16449189;16449193;16449191;15489334;15461802;15215855;14702039;10591208;8889548;18216283;16341674;20435896;19135427;23382691 91319 E7EVA4;Q96Q80 AA985493;AB049213;ABBA01055124;AK092582;AK096976;AK125830;AL389876;AMYH01012647;AP000350;AW135031;BC057830;BM792257;CA313370;CH471095;CR456372;NM_001002862;NM_001135751;NM_198440;T79532 AAH57830;BAB68409;BAC04919;BAC86311;CAG30258;CAK54508;CAK54807;EAW59609;EAW59610;EAW59611;EAW59612;NP_001002862;NP_001129223;NP_940842;Q96Q80 Hs.593679 1680593;1747905;1753533;2138155;2185030;2185032;5491316 A006E25;G20745;G66776;MARC_9679-9680:996688523:1;RH80678;SGC32593;SHGC-107450 C22orf14;IZP6;LLN2;MGC71803;derlin-3 DERtrin 3;DERtrin-3;Der1-like domain family, member 3;OTTHUMP00000198428;OTTHUMP00000198429;OTTHUMP00000198430;degradation in endoplasmic reticulum protein 3;der1-like protein 3;derlin 3;derlin-3 APPROVED protein-coding ENSG00000099958 14236 13139 610305 REVIEWED 1323042 DEPDC5 DEP domain containing 5 22 22 22 q12.3 15950512 16103452 + 30480069 30633001 + 32149937 32303020 + 1580863;6480464;7240710 15342556;16344560;15770670;15489334;12477932;10591208;9734811;21725309;22449649;21890473;23542697;23542701 9681 B4DGG3;C9JGS4;C9JIN9;F5GYZ8;F8WAX3;H0Y770;H7C1T0;H7C3I3;Q5THZ1 AB014545;ABBA01055348;ABBA01055349;ABBA01055350;ABBA01055351;ABBA01055352;ABBA01055353;ABBA01055354;ABBA01055355;ABBA01055356;AC005004;AJ698950;AJ698951;AJ704764;AK294583;AK294987;AK299886;AK300737;AK309008;AK316364;AL022331;AMYH01012722;AMYH01012723;AMYH01012724;BC057797;BC136612;BC144291;BC146766;BM145115;BP354669;BX640828;CA310381;CH471095;CR749304;DA339804;DB381506;NM_001007188;NM_001136029;NM_001242896;NM_001242897;NM_014662;Z82190;Z83856 AAD08635;AAH57797;AAI36613;AAI46767;BAA31620;BAG57774;BAG58054;BAG61733;BAH13337;BAH14735;CAE45904;CAG27889;CAG27890;CAG28924;CAH18159;EAW59996;EAW59997;EAW59998;EAW59999;NP_001007189;NP_001129501;NP_001229825;NP_001229826;NP_055477;O75140 Hs.435022 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DEP.5;DKFZp779P2027;FFEVF DEP domain-containing protein 5;OTTHUMP00000028946;OTTHUMP00000064061;OTTHUMP00000064062;OTTHUMP00000064064 protein-coding ENSG00000100150 18423 16795 604364;614191 VALIDATED 1344289 DERL2 derlin 2 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008] 17 17 17 p13.2 5393985 5405873 - 5318337 5330221 - 5377613 5389497 - 1580863;6480464;6907045 15215855;16912321;16449194;16449192;16186509;15489334;12477932;10810093;16449189;11500051;21145461;17207965;18216283;21832065;19864457;21906983;21909096;22174835;20435896;17360537;22505724 51009 I3L0R8;I3L1S8;I3L1T3;I3L1W3;I3L3R8;I3L4W7;K7EQE8;Q9GZP9 ABBA01054815;ABBA01054816;AC004148;AF132289;AF151859;AF208065;AF242523;AK024574;AMYH01008051;BC009549;BC010890;CH471108;CR457202;NM_016041 AAD34096;AAF99603;AAG43049;AAH10890;AAL14869;ADQ32689;CAG33483;EAW90329;NP_057125;Q9GZP9 Hs.286131 2164333 RH18361 CGI-101;F-LAN-1;F-LANa;FLANa DERtrin-2;Der1-like domain family, member 2;OTTHUMP00000128204;carcinoma related;degradation in endoplasmic reticulum protein 2;der1-like protein 2;derlin-2 APPROVED protein-coding 17943 16796 610304 PROVISIONAL 1346784 DERL1 derlin 1 The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 8 8 q24.13 124094769 124123722 - 124025404 124054663 - 1580863;6480464;6907045 19121997;19164805;19275885;15215855;15215856;16449189;19114714;18927294;18227067;18205950;18094046;18048502;17872946;17453418;16954204;16449195;16344560;16289116;16186510;16186509;16055502;15489334;14702039;12975309;12477932;11827452;9110174;8619474;18199748;18216283;18675248;16901789;18029348;18555783;19818707;17207965;21184741;23306155;23665563;21832049;15174051;21832065;20435896;19864457;21186355;21245296;17502376;22238364;21139048;16968747;18811591;19135427;21062743;21185345;21909096;22627700;22311976;17360537;21594788 79139 B4E1G1;E5RGY0;Q9BUN8 AA976062;ABBA01037863;AC104316;AF116708;AF131854;AI755206;AK023846;AK124086;AK303826;AK313675;AMYH01019003;AY358818;BC002457;BC037174;BC050691;CH471060;CQ859802;DA800358;DA906855;HC289752;NM_001134671;NM_024295 AAF71128;AAH02457;AAQ89177;ADQ31720;BAG36426;BAG54003;BAG64773;CAH25951;CBJ06471;EAW92013;EAW92014;EAW92015;EAW92016;EAW92017;NP_001128143;NP_077271;Q9BUN8 Hs.241576 1648131;1671127;1675640;1735810;2107377;2186258;5021872;5022651 D11S2921;D8S1422E;MGC3067__7703;RH68084;RH81010;SHGC-64153;STS-F13780;sY3084 DER-1;DER1;FLJ13784;FLJ42092;MGC3067;PRO2577 DERtrin-1;Der1-like domain family, member 1;OTTHUMP00000228362;OTTHUMP00000228364;OTTHUMP00000228366;OTTHUMP00000228367;degradation in endoplasmic reticulum protein 1;der1-like protein 1;derlin-1 APPROVED protein-coding ENSG00000136986 28454 12302 608813 REVIEWED 1607044 DESI1 desumoylating isopeptidase 1 22 22 22 q13.2 25803363 25823345 - 40326882 40346862 - 41994032 42017061 - 6480464 15461802;12477932;9110174;8619474;19913121;20628086;14702039;21139048;21890473;22370726 27351 Q6ICB0 ABBA01055647;ABBA01055648;AF038183;AK090725;AL023553;AMYH01012803;BC039554;BC093956;BC112179;BC171724;BX403547;BX478162;CH471095;CR456458;NM_015704;Z83840 AAH93956;AAI12180;CAG30344;EAW60445;NP_056519;Q6ICB0 Hs.570455 1341952;1664738;1767021;2126760;2148845;2151590;2151592;2157340;5015619;5015861;5037552;5117897;7185938 A005Z41;D10S16;D11S3114;D22S276;D22S677;D8S2279;G20634;GDB:631813;HUM0S11D04;SHGC-152669;SHGC-813;WI-15475 D15Wsu75e;DESI2;DJ347H13.4;DeSI-1;FAM152B;MGC138384;PPPDE2 OTTHUMP00000042148;PPPDE peptidase domain containing 2;PPPDE peptidase domain-containing protein 2;desumoylating isopeptidase 1;desumoylating isopeptidase 2;family with sequence similarity 152, member B APPROVED protein-coding ENSG00000100418 24577 18590 614637 VALIDATED 1350243 DFN2 deafness, X-linked 2, perceptive, congenital 7240710 8968763 1679 2775 300661;301835;304500;311070 1345979 DFN4 deafness, X-linked 4, congenital sensorineural 7240710 7942846 1680 2777 1349218 DFN5 deafness, X-linked 5 1681 2778 1343685 DFN8 deafness, X-linked 8 1684 2781 1352682 DFN6 deafness, X-linked 6, sensorineural 7240710 8872482 1682 2779 300066 1603047 DESI2 desumoylating isopeptidase 2 1 1 1 q44 218106243 218162211 + 242882975 242938958 + 244816352 244872335 + 6480464 19133312;18538138;15489334;12477932;10810093;21556770;22370726;19322201 51029 B1APK7;Q9BSY9 ABBA01047195;AC099757;AF151904;AF229834;AK314664;AL049397;AL451007;AMYH01001897;BC004485;BC020640;BC040608;BG290656;BI459676;CH471148;DB454981;NM_016076 AAD34141;AAF42919;AAH04485;AAH20640;EAW77114;EAW77115;EAW77116;EAW77117;NP_057160;Q9BSY9 Hs.498317 1645013;1666202;1706420;1714879;1849440;2128135;2152494;2163487;5015861;5092662 A005O07;D10S16;G32247;RH120434;RH45739;RP_L37_1;SHGC-64272;SHGC-76616;SHGC-80788;STS-AA011662 C1orf121;CGI-146;DESI;DESI1;DeSI-2;FAM152A;FLJ21998;PNAS-4;PPPDE1 OTTHUMP00000038197;OTTHUMP00000038198;PPPDE peptidase domain containing 1;PPPDE peptidase domain-containing protein 1;chromosome 1 open reading frame 121;desumoylating isopeptidase 1;desumoylating isopeptidase 2;family with sequence similarity 152, member A APPROVED protein-coding ENSG00000121644 24264 15153 614638 VALIDATED 1351071 DFNA16 deafness, autosomal dominant 16 7240710 10364526 1694 1340415 D2S2380 2789 1345143 DFNA18 deafness, autosomal dominant 18 7240710 11313754 85507 1338641 D3S1541 13268 1343757 DFNA19 deafness, autosomal dominant 19 1696 2791 1353995 DFNA21 deafness, autosomal dominant 21 7240710 10764236;10890148 192644 2794 1348048 DFNA23 deafness, autosomal dominant 23 7240710 10777717 23724 2795 605192;608389 1351423 DFNA24 deafness, autosomal dominant 24 7240710 10739769 23723 1337196 D4S1652 2796 1347485 DFNA25 deafness, autosomal dominant 25 7240710 11115382 64944 13270 605583 1347887 DES desmin This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008] 2 2 q35 219991343 219999705 + 220283099 220291461 + 1580290;1580863;6480464;6907045;7240710 11298680 22153487;11353857;9736733;9697706;9415431;19473514;19252475;19165527;19005210;18691435;18061454;17924085;17872945;17720647;17626518;17436150;17418574;17325244;17188893;16761416;16545539;16439510;16009553;15759133;15731013;15489334;15468102;14702039;14648196;12686604;12620971;12609507;12477932;12477713;12064939;11694502;11668632;11073539;11061256;10574968;10545598;10510252;9261168;8792816;8641565;8624579;8186663;7672786;2939097;2673923;2670738;8997639;8424456;2201025;11309420;12358155;19913121;20628086;20718792;21262226;20423733;11581269;11916970;15862967;19460759;19763525;19879535;20031618;20133133;20171226;20448486;20474083;20936779;21135508;20829228;20696008;22558309;22395512;21083940;10970245;22939629;20654101;20618440;21842594;22386993;22349865;23075894;21784990;21982405;22395865;21768101;22266860;22403400;12938929;20639865;21139048;21906983;22178446;22085644;22096479;20301486;20301582;20301672;23051780;20706999;21890473;21963094;22053931;23000965;23036309;17590381;22505724;22775584;22797925;23168288 1674 Q53SB5;Q8NEU6 ABBA01023841;AC053503;AF055081;AF055082;AF055083;AF137053;AF167579;AF189280;AF189281;AF486807;AF487828;AF521879;AF527578;AJ132926;AK022087;AK097038;AK098332;AK123787;AK300654;AL541778;AMYH01011508;AY083345;AY114212;AY125465;AY816189;AY816190;AY816191;BC010072;BC032116;BQ941246;CH471063;DQ104335;DQ104336;DQ104337;DQ301782;EF617312;M63391;NG_008043;NM_001927;U59167 AAA99221;AAC39938;AAC39939;AAC39940;AAC50680;AAF15400;AAG41217;AAG43459;AAG43460;AAH32116;AAL93205;AAL99078;AAL99215;AAM47026;AAM95238;AAN15036;AAN37810;AAV64888;AAV64889;AAV64890;AAY15051;AAZ17411;AAZ17412;AAZ17413;ABC33803;ABM83208;ABM86408;ABR08708;BAG62342;CAB62389;EAW70739;EAW70740;EAW70741;NP_001918;P17661 Hs.594952 1734846;1741489;1788014;1793318;1798834;1800128;1816002;1816430;1818712;1824538;1826042;1826044;1826386;1826840;1828578;1828636;1846190;1963744;1963746;1963748;1963750;1963752;1963754;1963756;1963758;1963760;1963762;1963764;1963766;1963768;1963770;1963772;1963774;1963776;1963778;1963780;1963782;1963784;1963786;1963788;1963790;1963792;1963794;1963796;1963798;1963800;1963802;1963804;1963806;1963808;1963810;1963812;1963814;1963816;1963818;1963820;1963822;1963824;1963826;1963828;1963830;1963832;2118281;2119431;2183967;2213872;2213874;2213876;2213878;2213880;2213882;2213884;7185400;7185534 D10S215;D10S605;D2S1596E;ECD00257;ECD00920;ECD09041;ECD09257;ECD10420;ECD13367;ECD14130;ECD14131;ECD14307;ECD14535;ECD15416;ECD15445;ECD24315;G15847;G67372;GDB:181243;PMC209322P1;REN52746;REN52747;REN52748;REN52749;REN52750;REN52751;REN52752;REN52753;REN52754;REN52755;REN52756;REN52757;REN52758;REN52759;REN52760;REN52761;REN52762;REN52763;REN52764;REN52765;REN52766;REN52767;REN52768;REN52769;REN52770;REN52771;REN52772;REN52773;REN52774;REN52775;REN52776;REN52777;REN52778;REN52779;REN52780;REN52781;REN52782;REN52783;REN52784;REN52785;REN52786;REN52787;REN52788;REN52789;REN52790;RH67933;STS-W67447;stSG632973;stSG632975;stSG632976;stSG632977;stSG632978;stSG632979;stSG632980 ARVC7;ARVD7;CMD1I;CSM1;CSM2;FLJ12025;FLJ39719;FLJ41013;FLJ41793;LGMD2R;MFM1;SCPNK OTTHUMP00000064865;desmin;intermediate filament protein APPROVED protein-coding ENSG00000175084 2770 00514 125660;181400;601419;604765;615325 REVIEWED 1352666 DFNA27 deafness, autosomal dominant 27 7240710 23722 2798 1345470 DFNA29 deafness, autosomal dominant 29 23720 2800 1353444 DFNA30 deafness, autosomal dominant 30 7240710 11571554 23719 1335591;1341965;7185028;7186551 D15S1004;D15S130;D15S151 2802 1351776 DFNA31 deafness, autosomal dominant 31 7240710 14729819 347737 2803 1343687 DFNA32 deafness, autosomal dominant 32 94138 2804 1347641 DFNA33 deafness, autosomal dominant 33 7240710 29779 2805 1348936 DFNA34 deafness, autosomal dominant 34 94139 2806 1353026 DFNA37 deafness, autosomal dominant 37 317718 18545 1347804 DFNA35 deafness, autosomal dominant 35 94140 2807 1345466 DFNA40 deafness, autosomal dominant 40 63945 14070 1346533 DFNA4 deafness, autosomal dominant 4 7655461 1686 2809 1347859 DFNA41 deafness, autosomal dominant 41 7240710 94142 1335349 D12S343 15575 1349035 DFNA42 deafness, autosomal dominant 42 7240710 170507 1338899;1339827;1340256 D5S2017;D5S2056;D5S638 15821 1351555 DFNA43 deafness, autosomal dominant 43 7240710 12676899 192676 1298201;1299910;7186253 D2S139;D2S2114;D2S2333 17243 1343670 DFNA44 deafness, autosomal dominant 44 7240710 12483295 338335 18663 607453 1352889 DFNA45 deafness, autosomal dominant 45 246287 18691 1342813 DFNA46 deafness, autosomal dominant 46 246288 18692 1350732 DFNA47 deafness, autosomal dominant 47 7240710 12634859 246289 18693 1603056 DEXI Dexi homolog (mouse) 16 16 16 p13.13 11192340 11205700 - 10930249 10943758 - 11022748 11036257 - 6480464 15489334;12477932;11306815;10332034;11472984;16169070;21901246;21989056;23151489 28955 O95424 ABBA01006804;AC007014;AC007220;AC133065;AF108145;AF129929;AK314111;AMYH01007152;BC001083;BC037569;BC052989;BC071683;CH471112;NM_014015 AAC83382;AAH01083;AAH37569;AAH52989;AAH71683;ABM81712;ABM84868;BAG36804;EAW85166;EAW85167;NP_054734;O95424 Hs.592051;Hs.659355 1650540;1670037;1764749;2152935;5094068;5113069 D15S1259;G34954;RH65464;RH67014;SHGC-148328;SHGC-60178 MYLE OTTHUMP00000160213;dexamethasone-induced protein;dexamethasone-induced transcript APPROVED protein-coding ENSG00000182108 13267 16798 VALIDATED 1344081 DFNA49 deafness, autosomal dominant 49 7240710 14627674 317664 18820 1354187 DFNA48 deafness, autosomal dominant 48 7240710 12596055 246290 18694 607841 1343994 DFNA52 deafness, autosomal dominant 52 7240710 12522684 347713 20791 1349658 DFNA50 deafness, autosomal dominant 50 7240710 14757864 317665 18819 613074 1342877 DFNA53 deafness, autosomal dominant 53 7240710 353347 21402 1347217 DFNA51 deafness, autosomal dominant 51 286750 19984 1351469 DFNA54 deafness, autosomal dominant 54 15490091 448962 23566 1344040 DFNA7 deafness, autosomal dominant 7 7240710 8842739 1689 1338728 D1S196 2812 1348716 DFNB13 deafness, autosomal recessive 13 7240710 9781028 1705 2819 1351998 DFNB14 deafness, autosomal recessive 14 7240710 9887371 1706 2820 1346199 DFNB15 deafness, autosomal recessive 15 7240710 9286457 1707 2821 601869 1350590 DFNB17 deafness, autosomal recessive 17 7240710 9674898 1709 2823 1353432 DFNB19 deafness, autosomal recessive 19 1712 2825 1352532 DFNB20 deafness, autosomal recessive 20 7240710 10196710 1713 2827 1345504 DFNB24 deafness, autosomal recessive 24 7240710 23716 2830 611022 1349702 DFNB25 deafness, autosomal recessive 25 23715 2831 1352391 DFNB26 deafness, autosomal recessive 26 7240710 11101839 23714 1339655 D4S1610 2832 1347115 DFNB27 deafness, autosomal recessive 27 7240710 11175289 23713 1338016;1338369;1342208 D2S2157;D2S2257;D2S2273 2833 1349874 DFNB28 deafness, autosomal recessive 28 23712 2834 1352253 DFNB32 deafness, autosomal recessive 32 7240710 12634867 113877 1336230;1855588 AFMb014zb9;D1S2868 16360 1348990 DET1 de-etiolated homolog 1 (Arabidopsis) 15 15 15 q25.3 65456264 65490480 - 86856718 86890888 - 89055714 89089912 - 6480464;6907045 17452440;16344560;15489334;14739464;14702039;12477932;16949367;16964240;21572435;19295130 55070 H0YK09;H0YN79;Q7L5Y6 AB073887;ABBA01052996;ABBA01052997;AC013489;AK000965;AK054603;AMYH01006907;AMYH01006908;BC001242;BC064591;BC073867;BC109060;BC109061;CH471101;DA655836;NM_001144074;NM_017996;NR_026645 AAH01242;AAI09061;AAI09062;BAA91447;BAG51398;EAX02003;EAX02004;EAX02005;EAX02006;NP_001137546;NP_060466;Q7L5Y6 Hs.690871 1682752;1686700;1721443;2158297;2218480 DET1_4697;G59573;RH48505;RH93545;STS-H96165 FLJ10103;MGC126156;MGC126157 DET1 homolog;de-etiolated 1;de-etiolated-1 homolog protein-coding ENSG00000140543 25477 13140 608727 VALIDATED 1345587 DFNB34 deafness, autosomal recessive 34 245821 17143 1343011 DFNB33 deafness, autosomal recessive 33 7240710 170508 1336264;1336577;1339570 D9S1826;D9S1838;D9S905 16359 1352572 DFNB38 deafness, autosomal recessive 38 7240710 12890929 337991 1334598;1336738 D6S1599;D6S1719 19210 1344391 DFNB36 deafness, autosomal recessive 36 18686 1353832 DFNB35 deafness, autosomal recessive 35 7240710 12529709 246148 18366 608565 1352587 DFNB39 deafness, autosomal recessive 39 7240710 14512973 317720 19211 608265 1342725 DFNB43 deafness, autosomal recessive 43 449481 17480 1344004 DFNB40 deafness, autosomal recessive 40 7240710 14512974 379003 1335420;1335956;1341864 D22S1144;D22S1174;D22S427 20408 1349449 DFNB42 deafness, autosomal recessive 42 7240710 449482 20181 609646 1346013 DFNB44 deafness, autosomal recessive 44 7240710 15583425 449484 23223 1350846 DFNB46 deafness, autosomal recessive 46 7240710 449488 31085 1352987 DFNB48 deafness, autosomal recessive 48 7240710 404086 31348 609439 1349488 DFNB47 deafness, autosomal recessive 47 7240710 449489 31086 1344042 DFNB5 deafness, autosomal recessive 5 7240710 8541854 1697 2837 1342672 DFNB49 deafness, autosomal recessive 49 7240710 15538632 404087 31349 610153 1347427 DFNB45 deafness, autosomal recessive 45 7240710 449483 22400 1349714 DFNB53 deafness, autosomal recessive 53 7240710 494120 28877 184840;215150;277610;601868;609706;614524 1345852 DFNB55 deafness, autosomal recessive 55 7240710 494148 28876 1349300 DFNB50 deafness, autosomal recessive 50 404542 31380 1353785 DFNB56 deafness, autosomal recessive 56 494149 31877 1343003 DFNM1 deafness (recessive, nonsyndromic) modifier 1 7240710 54362 1339088 D1S2815 2842 1354344 DFNM2 deafness (mitochondrial) modifier 2 11388757;10788333 494142 31866 1344215 DFNB51 deafness, autosomal recessive 51 7240710 448963 24367 1606338 DFFA DNA fragmentation factor, 45kDa, alpha polypeptide Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.3-p36.2 10443175 10455200 - 10520588 10532613 - 6480464;6907045 9108473;17353931;15572351;9564035;19240061;18805449;18500556;18292826;17945178;17938174;17645689;16964243;16950395;16619042;16432220;16344560;10318789;9422506;9605855;8125298;12404116;16189514;15489334;15324660;14675622;12748178;12477932;12467059;12181128;12144788;11929840;11870543;11752060;11406587;11371636;11004695;10976014;10932250;10619428;10527861;10527860;10497265;10409614;16169070;19535198;19882353;18029348;20687965;20562859;22454513;22939629;22863883;21139048;21890473;21906983;22378161 1676 K7ERT1;O00273 ABBA01035604;ABBA01035605;ABBA01035606;AF087573;AF103799;AK222546;AK313317;AL354956;AMYH01000246;AU121791;BC000037;BC007112;BC007721;BE207821;BT006980;BU956486;CH471130;NG_029098;NM_004401;NM_213566;U91985 AAC51249;AAD32953;AAF02419;AAH00037;AAH07112;AAH07721;AAP35626;BAD96266;BAG36122;EAW71655;EAW71656;EAW71657;EAW71658;NP_004392;NP_998731;O00273 Hs.484782 1647297;2217250;5014051;5015404;5015621;5016478;5020740;5020946;5022322;5022463;5022578;5022651;5024413;5037552 D11S2560;D11S2921;D11S3732;D1S1423;D3S1673;D8S2278;D8S2279;DFFA_3964;GDB:434012;L17705;L17809;L17877;L17971;SHGC-74201 DFF-45;DFF1;ICAD DFF45;DNA fragmentation factor 45 kDa subunit;DNA fragmentation factor subunit alpha;OTTHUMP00000001903;OTTHUMP00000001904;inhibitor of CAD APPROVED protein-coding 2772 03531 601882 REVIEWED 731033 DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 p36.3 3763705 3791853 + 3773845 3801993 + 1580863;6480464;6907045;628524 11425895 9671700;10959840;15572351;9108473;18283539;18239742;17938174;17492772;17239993;16699957;16529748;16428311;16204257;16156899;16121124;16049016;16007181;15910001;15703174;15569712;15489334;15149602;15147901;22023725;14759258;12748178;12738667;12610505;12477932;11371636;10830907;10619428;10527861;10527860;10409614;9689044;9560346;9422506;12404116;17353931;10932250;19882353;20855536;23430749;21832049;22939629;21820410;21139048;21890473;21906983;22253444;22011247;21145461;22609799;22505724;23229555 1677 G3XAD0;J3KT26;O76075;Q96P72;Q96P73 AB013918;AB028911;AB028912;AB028913;ABBA01073650;AF039210;AF064019;AF409060;AF409061;AF409062;AK290877;AK303065;AK309316;AL691523;AMYH01000192;AY438267;AY438268;BC032827;BC048797;CH471130;NM_004402 AAC39709;AAC39920;AAH32827;AAH48797;AAL02005;AAL02006;AAL02007;AAR05821;AAR05822;BAA32250;BAB40447;BAB40448;BAB40449;BAF83566;BAG64182;EAW71485;EAW71486;EAW71487;EAW71488;EAW71489;EAW71490;EAW71491;NP_004393;O76075 Hs.133089 5014019;5014740;5015404;5015619;5015879;5022578;5037552 D11S3114;D17S610;D1S1423;D5S2354;D8S2279;GDB:314949;L17705 CAD;CPAN;DFF-40;DFF2;DFF40 DNA fragmentation factor 40 kDa subunit;DNA fragmentation factor subunit beta;OTTHUMP00000003633;OTTHUMP00000003634;OTTHUMP00000003649;OTTHUMP00000003673;caspase-activated DNase;caspase-activated deoxyribonuclease;caspase-activated nuclease APPROVED protein-coding ENSG00000169598 2773 03532 601883 REVIEWED 6899057 DGAT2L7P diacylglycerol O-acyltransferase 2-like 7, pseudogene 7 q22.1 100845043 100846804 - 14970677 646409 Q6IED9 ABBA01011343;AC004876;AMYH01017751;BN000168;NG_033274;XM_003118595;XM_003119051;XM_003120053;XM_003960410 CAD91637;Q6IED9;XP_003118643;XP_003119099;XP_003120101;XP_003960459 2165896 A002S06 DGAT2L7 diacylglycerol O-acyltransferase 2 like protein 7;diacylglycerol O-acyltransferase 2-like 7 pseudogene;putative diacylglycerol O-acyltransferase 2-like protein 7;putative diacylglycerol O-acyltransferase 2-like protein DGAT2L7P pseudo 44367 INFERRED 1354149 DGCR DiGeorge syndrome chromosome region 7240710 1714 2844 187500;188400;192430;217095 1602812 DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 X X X q13.1 69750703 69778926 + 69314061 69342278 + 69397336 69425553 + 15772651;15671038;14970677;14702039 347516 Q6ZPD8 ABBA01067538;ABBA01067539;ABBA01067540;ABBA01067541;AK129500;AL139111;AL357752;AMYH01022525;BN000157;CH471132;HB886749;HB911599;HC944158;HC969008;NM_198512 AAI72336;BAC85167;CAD89268;CBF67533;CBF90892;CBU92406;CBV04412;EAX05354;NP_940914;Q6ZPD8 Hs.454355 1853929;2137761;2171621 DXS6831;DXS7678;DXS9718 DC3;FLJ25989 OTTHUMP00000023472;diacylglycerol O-acyltransferase 2 like 6;diacylglycerol O-acyltransferase 2-like protein 6;diacylglycerol O-acyltransferase candidate 3;hDC3 protein-coding ENSG00000184210 23250 13141 PROVISIONAL 1351059 DGCR11 DiGeorge syndrome critical region gene 11 (non-protein coding) 22 22 22 q11.21 2885701 2887914 - 19033675 19035888 - 19033675 19035888 - 6480464 8776594 25786 ABBA01005426;AC004461;AK098432;AMYH01012474;L77561;NG_021333;NR_024157 Hs.720269 1657660;1668304;1760255;2112408;5015619;5024035;5037552;5037636 D11S3114;D13S116;D22S1633;D22S1661;D8S2279;RH78708;SHGC-132562;SHGC-35943 DGS-D APPROVED miscrna 17226 VALIDATED 1349814 DGCR12 DiGeorge syndrome critical region gene 12 q11.21 8776594 25784 L77562 Hs.517357 2112194 D22S1578 DGS-E protein-coding 17225 1344083 DGCR13 DiGeorge syndrome critical region gene 13 8776594 26221 L77565 17863 1353708 DGCR10 DiGeorge syndrome critical region gene 10 (non-protein coding) 22 22 22 q11 2862160 2863086 + 19010137 19011063 + 19010137 19011063 + 8889548;8776594 26222 ABBA01005427;AC000095;AMYH01012473;BM681417;BU584104;L77559;NR_026651 Hs.681383 2112188 D22S1575 DGS-B APPROVED miscrna 17864 PREDICTED 1349509 DFNB31 deafness, autosomal recessive 31 This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010] 9 9 q32 116204181 116307551 - 117164360 117267736 - 1580603;6480464;7240710 12833159 17171570;16434480;19308021;16344560;14702039;12641734;12477932;12421765;11973626;10819331;20583170;15590698;17584769;19724906;20352026;20414141;21738389;21254220;20301515;20301607;22147658;23251661 25861 B9EGE6;Q9H9F4 AB040959;ABBA01042666;ABBA01042667;AK022854;AK056190;AL110228;AL138895;AL557526;AMYH01021674;BC011918;BC014524;BC136416;BC142614;BC142684;BF969269;BX329269;CH471090;DA502065;NG_016700;NM_001083885;NM_001173425;NM_015404 AAI36417;AAI42615;AAI42685;BAA96050;BAB14275;CAB53685;EAW87420;EAW87421;EAW87422;EAW87423;NP_001077354;NP_001166896;NP_056219;Q9P202 Hs.93836 1335741;1337150;1342121;1687652;1738277;1761075;1762039;1787066;1787162;2171538;2218482 D9S1682;D9S1776;D9S1824;D9S2024;D9S314;DFNB31_4698;RH99310;SHGC-145040;SHGC-145954;SHGC-154470;SHGC-156144 CIP98;DKFZp434N014;KIAA1526;PDZD7B;RP11-9M16.1;USH2D;WHRN;WI CASK-interacting protein CIP98;OTTHUMP00000021976;OTTHUMP00000021977;OTTHUMP00000021978;autosomal recessive deafness type 31 protein;whirlin APPROVED protein-coding ENSG00000095397 16361 09718 607084;607928;611383 REVIEWED 1352291 DFNB59 deafness, autosomal recessive 59 The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008] 2 2 2 q31.2 172919049 172928999 + 179026351 179034310 + 179316163 179326113 + 6480464;7240710 17718865;17373699;17301963;16804542;15489334;12477932;19913121;20628086;20739942;19160860;21696384;22617256;21935370;20301607 494513 H7C1C3;H7C3A9;Q0ZLH3 ABBA01062244;AC009948;AMYH01011305;AW006294;BC020859;BC127902;BC127903;BC146938;DQ365827;NG_012186;NM_001042702 AAI27903;AAI27904;AAI46939;ABC94894;NP_001036167;Q0ZLH3 Hs.87734 1685005 RH91939 PJVK OTTHUMP00000205645;OTTHUMP00000205647;OTTHUMP00000205649;autosomal recessive deafness type 59 protein;pejvakin APPROVED protein-coding ENSG00000204311 29502 610219;610220 REVIEWED 1349553 DFNA5 deafness, autosomal dominant 5 Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 p15 24704499 24764164 - 24737974 24797639 - 1599770;1580863;6480464;7240710 9771715 18346456;18223688;17868390;17616391;17427029;16897187;16344560;15489334;14702039;14676472;14559215;12853948;12853124;12477932;12461698;11058868;9523727;9450185;9110174;8619474;8589696;16169070;19911014;20379614;20403915;21522185;21805831;18781797;21906983;21963094;23000965;22493364;20301607;18029348 1687 A4FVA8;C9JSR4;H7BZJ0;H7C0L2;H7C147;H7C3W1;O60443 AACC02000007;ABBA01056725;ABBA01056726;AC003093;AF007790;AF073308;AF075171;AF131765;AJ270686;AK094714;AK290775;AK314402;AMYH01017118;BC019689;BC099911;BC125065;BC125066;BX647389;CH236948;CH471073;DA197867;DA820184;DA908548;NG_011593;NM_001127453;NM_001127454;NM_004403 AAB83938;AAC39635;AAC69324;AAC69326;AAD20039;AAH99911;AAI25066;AAI25067;BAF83464;BAG37026;BAG52917;EAL24246;EAW93812;EAW93813;EAW93814;NP_001120925;NP_001120926;NP_004394;O60443 Hs.520708 1336288;1684664;2108007;2123593;2126458;2165208;7186733 A004M17;D7S493;D7S632;DFNA5_8296;RH78503;RH92452;SHGC-36617 ICERE-1 OTTHUMP00000122464;OTTHUMP00000202025;OTTHUMP00000202026;inversely correlated with estrogen receptor expression 1;non-syndromic hearing impairment protein 5;nonsyndromic hearing impairment protein APPROVED protein-coding ENSG00000105928 2810 02996 600994;608798 REVIEWED 1346216 DGCR7 DiGeorge syndrome critical region gene 7 q11 11434309 266621 AF130850;X99536 Hs.657950 protein-coding 19249 1352737 DGAT2 diacylglycerol O-acyltransferase 2 This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 q13.5 75157456 75190225 + 75479778 75512581 + 1580863;6480464 11481335;19049983;18980578;18757836;17940217;17504763;17477860;16870193;15489334;15258194;15221005;14970677;22315393;14702039;14521909;12975309;12477932;20379614;8944226;17207965;19913121;20628086;20679960;20739640;21933415;22748069 84649 Q96PD7 AB048286;AB073384;ABBA01017460;ABBA01017461;AF384161;AI126704;AK074203;AK091870;AL834287;AMYH01003819;AP001922;AP003031;AY358532;AY780647;BC015234;CH471076;CR749377;DB462004;HB886769;HB911619;HC944178;HC969028;NM_001253891;NM_032564 AAH15234;AAK84176;AAQ88896;AAV35727;ADQ32768;BAB40641;BAD38635;CAD38961;CAH18230;CBF67543;CBF90902;CBU92416;CBV04422;EAW74984;EAW74985;NP_001240820;NP_115953;Q96PD7 Hs.129798 1694494;1699016;1771333;5015861;5022651;5127733;7185938 D10S16;D11S1008;D11S2921;G42985;RH103080;RH17957 ARAT;DKFZp686A15125;GS1999FULL;HMFN1045 OTTHUMP00000229397;OTTHUMP00000229398;acyl-CoA retinol O-fatty-acyltransferase;diacylglycerol O-acyltransferase 2;diacylglycerol O-acyltransferase homolog 2;diacylglycerol O-acyltransferase-like protein 2;diglyceride acyltransferase 2;retinol O-fatty-acyltransferase APPROVED protein-coding ENSG00000062282 16940 07376 606983 VALIDATED 731052 DGAT1 diacylglycerol O-acyltransferase 1 This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013] 8 8 q24.3 145510762 145521375 - 145538247 145550567 - 1625599;734536;1625597;1300048;1580863;6480464;6907045 12123490;10802663;14569040 11672446;9789033;18238778;15308631;19197254;18768481;18757836;16894240;16870193;16306352;15489334;15258194;14557275;12477932;12401709;11181995;8889548;9756920;20935628;8944226;20167659;21369919;21846726;21990351;21988832;23114594;23420847;3104518;11959864;15380446;16214399;17510710;18183944;22748069 8694 E9PNR5;O75907 AB057815;ABBA01005215;ABBA01005216;AC142402;AC233992;AF059202;AF205589;AMYH01019147;BC006263;BC015762;BC023565;BC106084;BC150649;BI907285;CH471162;CK300256;HY016503;NM_012079 AAC63997;AAH06263;AAH15762;AAH23565;AAI50650;ABM83212;ABM86412;BAC66170;EAW82127;EAW82128;EAW82129;EAW82130;NP_036211;O75907 Hs.521954 1679033;1739365;2108009;2151105 D8S1577E;DGAT1_8848;RH79683;STS-M64673 ARAT;ARGP1;DGAT ACAT related gene product 1;ACAT-related gene product 1;OTTHUMP00000228556;acyl coenzyme A:cholesterol acyltransferase related gene 1;acyl-CoA retinol O-fatty-acyltransferase;acyl-CoA:diacylglycerol acyltransferase;diacylglycerol O-acyltransferase 1;diacylglycerol O-acyltransferase homolog 1;diglyceride acyltransferase;retinol O-fatty-acyltransferase APPROVED protein-coding 2843 05360 604900 REVIEWED 1353254 DGCR5 DiGeorge syndrome critical region gene 5 (non-protein coding) 22 22 22 q11 2810158 2834163 + 17338027 17362141 + 18958011 18982142 + 6480464 11258795;8659529;12477932;19050060;21886157 26220 AB051434;ABBA01005429;AC007326;AI566862;AMYH01012471;AMYH01012472;BF313645;BG699848;NR_002733;NR_045121 Hs.646438 1721037;2112430;2112434;2112436;2112450;2112496;2176226;5037552 D22S1630;D22S1640;D22S1642;D22S1649;D22S1659;D8S2279;G59500;WI-14976 KIAA1647;LINC00037;MGC45713;NCRNA00037 miscrna 16757 VALIDATED 1343276 DGCR9 DiGeorge syndrome critical region gene 9 22 22 22 q11.21 2857370 2859784 + 19005347 19007761 + 19005347 19007761 + 8776594 25787 ABBA01005428;AC000095;AMYH01012472;BC036821;L77571;NR_024159 Hs.106311 1662662;2112484;2112490;2112494;2135293;5111411 D22S1652;D22S1656;D22S1657;D22S987E;RH77813;SHGC-57259 DGS-A miscrna 17227 VALIDATED 1321547 DGCR2 DiGeorge syndrome critical region gene 2 Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 22 22 q11.21 17403795 17489967 - 19023795 19109967 - 1580863;6480464 7655455;18797402;17081983;16783572;16344560;15489334;15461802;15231748;12477932;8776594;8724849;8630060;7633403;19668116;19906316;3770751;21822266;20301696;22465717;21988832 9993 B7Z3C4;B7Z3T5;P98153;Q5CZ70;Q8IWC8 ABBA01005425;ABBA01005426;AC000095;AC004461;AC004462;AC004471;AK291670;AK295697;AK296337;AK303130;AK304382;AMYH01012474;AMYH01012475;AW502246;BC020339;BC032430;BC035425;BC040500;CH471176;CR456433;CR936871;D79985;DA494775;FJ032369;L46352;L77560;NG_021333;NM_001173533;NM_001173534;NM_001184781;NM_005137;NR_033674;X83545;X84076 AAB59561;AAH32430;AAH40500;ABM85086;ACI00235;BAA11480;BAF84359;BAH12160;BAH12321;BAH13903;BAH14171;CAA58536;CAA58883;CAG30319;CAI59783;CAK54424;CAK54723;EAX03061;EAX03062;EAX03063;NP_001167004;NP_001167005;NP_001171710;NP_005128;P98153 Hs.517357 1657660;1667832;1667834;1668304;1683523;1734300;1739511;1760255;1767133;1767135;2112180;2112186;2112410;2112412;2112414;2112456;2112460;2112480;2150643;2178834;2218764 A001T42;A002D20;D22S1117;D22S1569;D22S1573;D22S1600;D22S1611;D22S1626;D22S1635;D22S1650;D22S1653;D22S947;DGCR2__4701;G19640;G19956;RH25381;RH78708;SGC31562;SHGC-132562;SHGC-35943;STS-L46584 DGS-C;DKFZp686I1730;IDD;KIAA0163;LAN;SEZ-12 DiGeorge syndrome critical region protein 2;OTTHUMP00000196406;integral membrane protein DGCR2/IDD;integral membrane protein deleted in DiGeorge syndrome APPROVED protein-coding ENSG00000070413 2845 08999 600594 REVIEWED 1317866 DGCR14 DiGeorge syndrome critical region gene 14 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 2969816 2984136 - 17497792 17512190 - 19117792 19132190 - 1580863;6480464 8703114;18029348;17081983;16432632;15489334;15461802;14702039;12477932;11991638;11984006;11751918;9499415;9405660;9383280;9063747;8786095;8776594;19913121;21890473;21900206;20301696;21988832;22365833 8220 F8WEF8;Q96DF8 ABBA01005424;AC004471;AK095932;AMYH01012475;BC003015;BC006542;BC037829;BC069275;BM545545;CH471176;CR456344;L42353;L77565;L77566;L78010;NG_008320;NM_022719;U84518 AAH03015;AAH06542;AAL40039;ABM81588;ABM84768;BAG53170;CAG30230;CAK54486;CAK54785;EAX03053;EAX03054;EAX03055;EAX03056;NP_073210;Q96DF8 Hs.517407;Hs.741535 1681785;1682942;1775812;2109895;2112178;2112184;2112192;2112502;2112508;5123917 A008Y39;D22S1008E;D22S1568;D22S1572;D22S1577;D22S1667;D22S1670;RH77816;RH91163;STK22B_9383 DGCR13;DGS-H;DGS-I;DGSH;DGSI;ES2;Es2el DiGeorge syndrome critical region gene 13;DiGeorge syndrome critical region gene DGSI;DiGeorge syndrome gene H;DiGeorge syndrome gene I;OTTHUMP00000196363;Protein DGCR13;diGeorge syndrome critical region 13;diGeorge syndrome critical region 14;diGeorge syndrome protein H;protein DGCR14 APPROVED protein-coding ENSG00000100056 16817 03452;18586 601755 REVIEWED 1319711 DGCR6 DiGeorge syndrome critical region gene 6 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008] 22 22 22 q11.21 2745929 2751791 + 17273779 17279601 + 18893736 18899601 + 1580863;6480464 8733130;15821931;15489334;15461802;12477932;12107411;11959925;11891283;11157784;20036641;20398908;21832049;20301696;22832905 8214 G5E9J8;K7ELY4;K7EPQ2;Q14129;Q6FGH4 ABBA01005433;AC007326;AF228707;AK098780;AK315115;AMYH01012468;BC033306;BC047039;BQ639188;CD368547;CH471176;CR456434;CR542133;DW432909;NG_009052;NM_005675;X96484 AAH47039;AAK15584;BAG37572;CAA65339;CAG30320;CAG46930;CAK54425;CAK54724;EAX03075;EAX03076;EAX03077;EAX03078;NP_005666;Q14129 Hs.474185 1771014;2189353 G21267;MARC_2646-2647:991932963:1 DiGeorge syndrome critical region protein 6;OTTHUMP00000196491;protein DGCR6 APPROVED protein-coding ENSG00000183628 2846 03177 601279 REVIEWED 1343811 DGCR6L DiGeorge syndrome critical region gene 6-like This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4153410 4159277 - 18681799 18687608 - 20301761 20307628 - 1580863;6480464 16189514;15821931;15489334;15461802;14702039;12477932;11157784;19778628;22832905 85359 B5MCQ4;F8WCX1;Q9BY27 ABBA01005390;AC007663;AF228708;AK001528;AK289952;AK307210;AK310899;AMYH01012488;BC000682;CH471176;CR456361;NM_033257 AAH00682;AAK15585;BAF82641;BAG50932;CAG30247;CAK54502;CAK54801;EAX02972;EAX02973;EAX02974;NP_150282;Q9BY27 Hs.410965 1771014;2189353 G21267;MARC_2646-2647:991932963:1 FLJ10666 DiGeorge syndrome critical region gene 6 like;OTTHUMP00000197870;OTTHUMP00000197880;diGeorge syndrome critical region 6-like protein;protein DGCR6L APPROVED protein-coding ENSG00000128185 18551 16800 609459 REVIEWED 732760 DGKA diacylglycerol kinase, alpha 80kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 12 12 q13.3 54611213 54634074 + 56324946 56347807 + 1580863;6480464;6907045 7959783;8180475;2175712;18424699;18004883;17911109;17276726;15928040;15870081;15489334;15122338;15117825;14734770;14702039;14559993;12626538;12477932;11285286;10358029;10206945;8626603;19751727;16341674;10970854;17700527;17898083;20160093;21493725;22939629;21252909;22048771;22318606;22573804;21906983;22271650;22951725;18729074;22505724;22425622 1606 C9JM35;F8VNZ9;F8VWX8;F8W1H7;F8W1M3;G3V312;G3V327;G3V4E1;G3V4I3;H0YJE7;H0YJH4;P23743;Q3ZE25 ABBA01008394;ABBA01008395;AC025162;AF064767;AF064768;AF064769;AF064770;AF064771;AI815678;AK122973;AK127093;AK226134;AK303320;AK307685;AK309939;AK310600;AMYH01004497;AY930112;BC023523;BC031870;BF448612;BM836118;BM910598;BQ943057;CH471054;NM_001345;NM_201444;NM_201445;NM_201554;X62535 AAC34802;AAC34803;AAC34804;AAC34805;AAC34806;AAH23523;AAH31870;AAY20994;ABM82643;ABM85820;BAG64388;CAA44396;EAW96849;EAW96850;EAW96851;NP_001336;NP_958852;NP_958853;NP_963848;P23743 Hs.524488 1734012;2121414;2126877;2140056;2157357;2168254;2190579;2217252;5015385 D12S53E;DGKA_2719;EST8E12;G06345;RH68207;SHGC-5310;STS-D29052;STS-N23118;STS-X62535 DAGK;DAGK1;DGK-alpha;MGC12821;MGC42356 80 kDa diacylglycerol kinase;DAG kinase alpha;OTTHUMP00000242836;OTTHUMP00000242955;OTTHUMP00000244046;diacylglycerol kinase alpha;diacylglycerol kinase, alpha (80 kda);diglyceride kinase alpha APPROVED protein-coding ENSG00000065357 2849 00517 125855 REVIEWED 1314941 DGCR8 DGCR8 microprocessor complex subunit This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 22 22 q11.2 18447834 18479400 + 20067755 20099400 + 1580863;4144851;6480464 20661255 12477932;15574589;15531877;11256614;19138993;19135890;19047128;17765891;17704815;17159994;16751099;16381901;15589161;15489336;15489334;15461802;14702039;12705904;11076863;8125298;19721432;20585341;20721975;16344560;19759829;19851984;19902333;18029348;20732906;20819778;20506313;21454614;21832049;22025453;22939629;22393237;22222205;20301696;22308374;22434730;21145461;22796965 54487 C9JSD5;Q9H6T7 AA737782;AB050770;ABBA01005394;ABBA01005395;AC006547;AF165527;AK025427;AK025539;AK025780;AK094381;AK222796;AK313357;AMYH01012483;AY189282;BC009323;BC009984;BC037564;BC071568;BC078147;BQ001948;BQ227899;BX649187;CH471176;CR456356;DA433651;HC879390;HD033099;NG_022931;NM_001190326;NM_022720 AAF82263;AAH09323;AAH09984;AAH78147;AAO86726;BAB15165;BAB15238;BAB83032;BAD96516;BAG36158;CAE46205;CAG30242;CAK54497;CAK54796;CAL37531;CBM42911;CBV35644;EAX02998;EAX02999;EAX03000;NP_001177255;NP_073557;Q8WYQ5 Hs.643452;Hs.713579 1677240;1694808;1699728;1713761 G43633;RH103470;RH120767;RH76352 C22orf12;DGCRK6;Gy1;pasha DiGeorge syndrome critical region 8;OTTHUMP00000197673;OTTHUMP00000197674;microprocessor complex subunit DGCR8 APPROVED protein-coding ENSG00000128191 2847 09913 609030 REVIEWED 1323099 DGKD diacylglycerol kinase, delta 130kDa This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 q37.1 233927892 234045482 + 234263153 234380743 + 1580863;6480464;6907045 20705733;12200442;8626538;18334213;18267070;17357084;15489334;15228384;12810723;12477932;12084710;11809841;11309392;8590280;16169070;10082674;20064931;20379614;20857926;22406787;21900206;14559993;22412388;23184957 8527 C9JY42;H7BZR7;H7C0L1;Q16760 AB078966;ABBA01001948;AC013726;AC019221;AK130440;AK307426;AK308846;AK311044;AMYH01011578;BC006561;BC032102;CH471063;D63479;D73409;NG_029495;NM_003648;NM_152879 AAH06561;AAY14862;AAY24321;BAA09766;BAA11134;BAC11809;BAC85352;EAW71047;EAW71048;EAW71049;EAW71050;NP_003639;NP_690618;Q16760 Hs.471675 1722251;1795682;2139412;2142986;2160664;2172087;2186369 DGKD__1189;G60032;RH25367;SGC31815;SGC34781;WI-13370;WIAF-1700 DGKdelta;FLJ26930;KIAA0145;dgkd-2 130 kDa diacylglycerol kinase;DAG kinase delta;DGK-delta;OTTHUMP00000164394;OTTHUMP00000203355;diacylglycerol kinase delta;diglyceride kinase delta APPROVED protein-coding ENSG00000077044 2851 03492 601826 REVIEWED 731815 DGKB diacylglycerol kinase, beta 90kDa Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p21.2 14163789 14859377 - 14153770 14847413 - 14184674 14881075 - 1300048;6480464;6907045 17353931;18062770;16344560;15489334;14702039;12853948;12690205;12477932;11719522;9872452;7689223;19913121;20571754;20628086;20677014;19176441;20081858;20185807;20379614;20419449;20490451;20889853;21493725;22581228;22399527 1607 B5MBY2;B5MCD5;C9JA18;C9JTC0;F8WD28;Q86UI5 AACC02000009;AB018261;ABBA01056599;ABBA01056600;ABBA01056601;ABBA01056602;ABBA01056603;ABBA01056604;ABBA01056605;ABBA01056606;ABBA01056607;ABBA01056608;ABBA01056609;AC005039;AC005248;AC006150;AC011229;AC073258;AC105459;AK124856;AK295668;AK304719;AMYH01017080;AMYH01017081;AMYH01017082;AX032742;AX032745;BC105005;BC143632;BC143633;CH236948;CH471073;DA321150;NG_029494;NM_004080;NM_145695 AAC25525;AAI05006;AAI43633;AAP21868;AAP22362;AAS07495;AAS07533;BAA34438;BAH12149;BAH14245;CAC09945;CAC09946;EAL24292;EAL24293;EAW93663;EAW93664;NP_004071;NP_663733;Q9Y6T7 Hs.567255 1644408;1654815;1666470;1673004;1703824;1704846;1704896;1713559;1714377;1714789;1717377;1795680;1854275;1856793;2141086;2157272;2169577;2171075;2179081;5037552;5491358 116XH6;AFMB347YE1;D7S1533;D7S2033;D8S2279;DGKB_583;EST-CFZ97756;G17150;G17164;G17177;GDB:1317276;GDB:1317914;GDB:1318446;RH120060;RH120179;RH120266;RH122179;RH48035;SHGC-78962;SHGC-79897;SHGC-79923 DAGK2;DGK;DGK-BETA;KIAA0718 90 kDa diacylglycerol kinase;DAG kinase beta;OTTHUMP00000201739;OTTHUMP00000201740;OTTHUMP00000201743;OTTHUMP00000201744;OTTHUMP00000201745;diacylglycerol kinase beta;diacylglycerol kinase, beta;diglyceride kinase beta APPROVED protein-coding ENSG00000136267 2850 06819 604070 REVIEWED 1343674 DGKI diacylglycerol kinase, iota This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008] 7 7 7 q32.3-q33 131813301 132270574 - 136724925 137182149 - 137074385 137531609 - 1302755;1580863;6480464;6907045 9830018 17986458;19065143;14702039;12690205;10706894;20379614;21502085;21203819;15894621 9162 E7EM72;E7EWQ4;E9PFX6;O75912 AACC02000025;AB209167;ABBA01001143;ABBA01001144;ABBA01001145;ABBA01001146;ABBA01001147;ABBA01001148;ABBA01001149;ABBA01001150;ABBA01001151;AC009179;AC009245;AC022173;AC078842;AC090498;AK091081;AMYH01017964;AMYH01017965;CH236950;CH471070;NM_004717 BAD92404;BAG52281;EAL24051;EAW83873;EAW83874;EAW83875;EAW83876;NP_004708;O75912 Hs.242947 1647772;1649226;1657485;1713779;1715413;1715769;1723925;1727453;1727911;1753277;1754583;1795686;2117268;2125423;2131948;2140860;2142364;2181869;7185265;7187078;7187436 D7S1593;D7S2341;D7S509;D7S766;DGKI_589;G18096;G62984;G63373;GDB:1318597;GDB:3754597;RH118693;RH119333;RH120539;RH120776;RH46201;RH66737;SHGC-132869;SHGC-34310;SHGC-80700 DGK-IOTA DAG kinase iota;OTTHUMP00000208492;OTTHUMP00000208493;OTTHUMP00000208494;OTTHUMP00000208597;diacylglycerol kinase iota;diglyceride kinase iota APPROVED protein-coding ENSG00000157680 2855 07238 604072 REVIEWED 4889297 DGKZP1 diacylglycerol kinase, zeta pseudogene 1 13 13 13 q14.11 25598618 25602005 + 43440382 43443943 + 44542459 44545846 + 400126 ABBA01021238;AL512506;AMYH01005080;AMYH01005081;NG_005323 1791274;1793312 MARC_9821-9822:996688622:1;PMC20810P1 pseudo 39263 INFERRED 1347499 DGKE diacylglycerol kinase, epsilon 64kDa Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008] 17 17 q22 52266552 52295922 + 54911460 54946036 + 1580863;6480464;6907045 8626589;17353931;19329342;18391951;18004883;17455907;16344560;14702039;12477932;10571048;10051413;8889548;17620599;21833457;19744926;20546612;21194521;21725595;22266092;22108654;22511757;21890473;21988832;23274426;23261795;23542698 8526 A1L4Q0;I3L112;I3L2V2;P52429;Q8TBM4 AB209365;ABBA01041306;ABBA01041307;AC015912;AC106858;AF136745;AK057591;AK129803;AK293039;AK310668;AL555194;AMYH01008497;BC022297;BC130629;BC130631;BM682264;CH471109;DB221284;NM_003647;U49379 AAC50497;AAD45666;AAH22297;AAI30630;AAI30632;ADR83069;BAD92602;BAF85728;EAW94526;NP_003638;P52429 Hs.239514 1664065;2106465;2117489;2123877;5014051;5016478;5017266;5037552;5118444 A004M35;D11S3316;D8S2278;D8S2279;DGKE_4069;GDB:434012;L18506;RH47631;SHGC-31117 DAGK5;DAGK6;DGK;NPHS7 DAG kinase epsilon;DGK-epsilon;diacylglycerol kinase epsilon;diglyceride kinase epsilon APPROVED protein-coding ENSG00000153933 2852 03259 601440;615008 REVIEWED 733742 DGKG diacylglycerol kinase, gamma 90kDa This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q27.2-q27.3 187347684 187562717 - 185864990 186080023 - 1300048;1580863;6480464;6907045 8034597;19079260;17803461;16905533;16407189;16288460;15578578;15212759;15194113;15150663;15102830;12941073;12732202;12477932;10071200;9003401;8889548;20816195;20200978;20215397;20379614;18029348;17620599 1608 F5GX27;H7C0L0;P49619 AB209033;ABBA01058391;ABBA01058392;AC007917;AC112649;AC117414;AF020945;AK304440;AK309682;AK314192;AMYH01013732;AMYH01013733;AY737485;BC089411;BC112363;BM669549;D26135;NM_001080744;NM_001080745;NM_001346 AAC04686;AAH89411;AAI12364;AAW63408;BAA05132;BAD92270;BAG36871;BAH14187;NP_001074213;NP_001074214;NP_001337;P49619 Hs.683449 1337822;1339999;1645464;1650106;1686885;1713301;1714821;1722597;1795684;1848587;2126111;2134797;2138789;2139499;2145128;2149537;2167027;2167590;2171349;2180690;7183817 D3S1602;D3S1617;DGKG_587;G09397;G10718;G30123;G60382;NIB1365;RH120077;RH120642;SHGC-30409;SHGC-3840;SHGC-77607;SHGC-77615;SHGC-77620;SHGC-77629;SHGC-77630;SHGC-77631;WI-15878;WI-7381 DAGK3;DGK-GAMMA;MGC104993;MGC133330 DAG kinase gamma;OTTHUMP00000210178;OTTHUMP00000210179;OTTHUMP00000210200;diacylglycerol kinase gamma;diacylglycerol kinase, gamma;diacylglyerol kinase gamma;diglyceride kinase gamma APPROVED protein-coding ENSG00000058866 2853 03510 601854 REVIEWED 6481325 DGUOK-AS1 DGUOK antisense RNA 1 2 74185094 74208418 - 23273568 100874048 AA625191;AC073046;AI027152;AJ714278;AMYH01010448;AMYH01010449;CD701508;NR_104029;NR_104030;XR_158985;XR_171304 Hs.661709 APPROVED miscrna 43441 VALIDATED 1352279 DGKH diacylglycerol kinase, eta This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family of proteins, specifically the type II DGK subfamily. Members of this family are involved in regulating the intracellular concentrations of diacylglycerol and phosphatidic acid. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2011] 13 13 q14.11 41520889 41701888 + 42614172 42803891 + 1580863;6480464;6907045 19328558;19308021;17486107;15489334;15057823;14702039;12810723;12477932;9438377;8702685;20733578;19478689;19710016;19818381;20189936;20379614;23177175;21507135;21548979;18029348;20519059;22396660;17620599;21654738;21988832;22048461 160851 A8K0I1;B4DYW1;F5GYP2;Q8N7J9 AB078967;AB078968;ABBA01021255;ABBA01021256;ABBA01021257;ABBA01021258;ABBA01021259;ABBA01021260;ABBA01021261;AI675047;AK098302;AK122909;AK289546;AK302631;AK302727;AL136527;AL139328;AL157932;AL833883;AMYH01005068;AMYH01005069;AMYH01005070;AMYH01005071;BC043292;BC044822;CH471075;DR002010;NG_029191;NM_001204504;NM_001204505;NM_001204506;NM_152910;NM_178009 AAH43292;BAC05280;BAC66960;BAC66961;BAF82235;BAG63873;BAG63946;CAD38739;EAX08671;EAX08672;EAX08673;EAX08674;EAX08675;NP_001191433;NP_001191434;NP_001191435;NP_690874;NP_821077;Q86XP1 Hs.733239 1661944;1670849;1689767;1695372;1700292;1754675;1754817;1797474 D13S1355;DGKH_1379;RH103765;RH39631;SHGC-133032;SHGC-141737;SHGC-6155;SHGC-68342 DGKeta;DKFZp761I1510 DAG kinase eta;DGK-eta;OTTHUMP00000018326;OTTHUMP00000178584;diacylglycerol kinase eta;diglyceride kinase eta APPROVED protein-coding ENSG00000102780 2854 07237 604071 REVIEWED 1603361 DGKK diacylglycerol kinase, kappa The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011] X X X p11.22 54155478 54257318 - 50128637 50230477 - 50111879 50213721 - 6480464 16210324;18029348;12477932;21113153 139189 Q5KSL6 AB183864;ABBA01060111;ABBA01060112;ABBA01060113;ABBA01060114;ABBA01060115;ABBA01060116;ABBA01060117;ABBA01060118;ABBA01060119;AC233286;AC239396;AL357894;AL591367;AMYH01022328;AMYH01022329;BC137319;BC137320;CH471180;DB728104;NG_033143;NM_001013742 AAI37320;AAI37321;BAD86792;EAW89919;NP_001013764;Q5KSL6 Hs.631770 1702876;1703104 DXS8307;sWXD1435 MRX68 142 kDa diacylglycerol kinase;DAG kinase kappa;DGK-kappa;diacylglycerol kinase kappa;diglyceride kinase kappa APPROVED protein-coding 32395 10299 300837 REVIEWED 1318208 DGKQ diacylglycerol kinase, theta 110kDa The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008] 4 4 p16.3 942675 957344 - 952672 967348 - 1580863;6480464;6907045 17664281;10066731;15632189;12799190;18985386;12477932;9438377;9099683;8626538;8617502;19336002;20070850;20736409;20057501;23091060;22939629;22438815;22451204;22732145 1609 D6RJB4;H0Y8Q7;H0YA20;P52824;Q59FF7 AB209503;ABBA01019347;AC019103;AMYH01013841;AW139889;BC063801;CH471131;DN990411;GU727647;L38707;NM_001347 AAA98749;AAH63801;ADU87648;BAD92740;EAW82630;EAW82631;EAW82632;NP_001338;P52824 Hs.584858 1767858;2141662;2185816 A008Y17;RH78064;SHGC-68209 DAGK;DAGK4;DAGK7 DAG kinase theta;DGK-theta;OTTHUMP00000112179;OTTHUMP00000217323;diacylglycerol kinase theta;diglyceride kinase theta APPROVED protein-coding ENSG00000145214 2856 03127 601207 REVIEWED 733860 DGKZ diacylglycerol kinase, zeta The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010] 11 11 p11.2 46311315 46358680 + 46354455 46402104 + 1580863;1300048;6480464;6907045 8626588;9716136;16286473;19211846;18694729;18004883;17351151;17081983;15632115;15157668;14707140;14702039;14551255;12890670;12883552;12477932;20694011;12070163;12015310;11352924;11257115;11078732;9159104;8125298;16169070;17350623;17664281;19308020;21194521;22895365;17620599;21900206;21996351;21937721;22271650;18029348 8525 A8MVN1;B7Z6M3;E9PK94;E9PKT3;E9PNL8;E9PNZ3;F5H033;H0YDN6;H0YEG2;Q13574 AB209635;ABBA01060748;AC116021;AK097960;AK123378;AK124594;AK124693;AK126970;AK225774;AK293615;AK294888;AK300577;AK303322;AK312398;AMYH01003533;AMYH01003534;BC008018;BC041770;BU849628;BX370257;BX648433;BX649190;CB959911;CH471064;DC416889;NM_001105540;NM_001199266;NM_001199267;NM_001199268;NM_003646;NM_201532;NM_201533;U51477;U94905 AAB60859;AAC50478;AAH08018;AAH41770;BAC85599;BAC85894;BAC86770;BAD92872;BAH11548;BAH11915;BAH13309;BAH13942;CAE46208;EAW68006;EAW68007;EAW68008;EAW68009;NP_001099010;NP_001186195;NP_001186196;NP_001186197;NP_003637;NP_963290;NP_963291;Q13574 Hs.502461 1648159;1683934;1791274;1793312;1793314;1795688;5021982 DGKZ_1591;MARC_9821-9822:996688622:1;PMC20810P1;PMC20810P2;RH12588;RH48086;contig_66229 DAGK5;DAGK6;DGK-ZETA;hDGKzeta DAG kinase zeta;OTTHUMP00000232889;OTTHUMP00000232890;OTTHUMP00000232891;OTTHUMP00000233028;OTTHUMP00000233029;OTTHUMP00000238021;OTTHUMP00000238022;diacylglycerol kinase zeta;diacylglycerol kinase, zeta 104kDa;diglyceride kinase zeta APPROVED protein-coding ENSG00000149091 2857 03260 601441 REVIEWED 1323810 DHDH dihydrodiol dehydrogenase (dimeric) This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46304300 46315587 + 54128751 54140038 + 49436939 49448226 + 1580863;6480464;6907045 10477285;18676680;18600452;12477932;11306093;11097839;19170196;19625176;19692168;19773279 27294 E5RFE0;E5RGT8;H0YBU7;Q9UQ10 AB021933;ABBA01032955;ABBA01032956;AC026803;AMYH01009908;BC032730;BF510979;CH471177;NM_014475 AAH32730;ABM81808;ABM84962;BAA83490;EAW52414;NP_055290;Q9UQ10 Hs.631555 2DD;HUM2DD 3-deoxyglucosone reductase;D-xylose 1-dehydrogenase;D-xylose-NADP dehydrogenase;OTTHUMP00000228207;OTTHUMP00000228209;OTTHUMP00000228210;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase APPROVED protein-coding ENSG00000104808 17887 08399 606377 REVIEWED 1315197 DHCR24 24-dehydrocholesterol reductase This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008] 1 1 p32.3 55087888 55125509 - 55315300 55352921 - 1600897;1580863;2316868;2316857;6480464;7240710 11519011;12668600;16876788 15577914;15688385;11007892;16407971;12457401;19336370;19325144;18815215;18762779;18660489;18499757;18194465;17984220;17855807;17579359;17510943;16762343;15954227;15489334;15342556;15001630;12477932;7584028;7584026;22431021;22910610;20634891;20689807;20568014;19520779;19815556;19861417;4359325;20465827;20061631;20166102;22178193;21559050;21901424;21139048;21890473;21906983;21963094;21987572;23000965;23246001;23050906;21987590;22010141;22190034;23123430 1718 B7Z817;F5H0H1;H7C4B7;Q15392 AB073391;ABBA01074707;AC096536;AF261758;AF398341;AI952034;AK298414;AK302774;AK304302;AK304421;AK304437;AK316419;AK316427;AMYH01000641;BC004375;BC011669;BP200916;BQ439951;CH471059;D13643;NG_008839;NM_014762 AAG17288;AAH04375;AAH11669;AAL15644;ABM84331;ABM87722;BAA02806;BAE45721;BAH12782;BAH13803;BAH14155;BAH14179;BAH14186;BAH14790;BAH14798;EAX06663;EAX06664;NP_055577;Q15392 Hs.498727 1658502;1670121;5491732 DHCR24;RH68204;SHGC-74871 DCE;KIAA0018;Nbla03646;SELADIN1;seladin-1 24-dehydrocholesterol reductase;3 beta-hydroxysterol delta 24-reductase;3-beta-hydroxysterol delta-24-reductase;OTTHUMP00000011685;delta(24)-sterol reductase;desmosterol-to-cholesterol enzyme;diminuto/dwarf1 homolog;seladin 1;selective AD indicator 1 APPROVED protein-coding ENSG00000116133 2859 05916 602398;606418 REVIEWED 1354176 DHFRP2 dihydrofolate reductase pseudogene 2 6 6 6 p21.33 32933605 32937103 - 31441621 31442812 - 31331244 31334742 - 9689108;6961421;3341383;22493691;23001997 729816 ABBA01038073;AC004182;AL669854;AL671883;AL845443;AMYH01016216;BX248310;BX927178;J00143;J00144;J00145;NG_001113 1741525;2106151;2189579 C1_4_1;D6S2927;GDB:181306 pseudo 2863 INFERRED 1346515 DHFRL1 dihydrofolate reductase-like 1 3 3 3 q11.1 92160656 92165546 - 95259456 95264350 - 93776766 93782067 - 737633;6480464 12477932 18447718;15489334;14702039;17207965;21876184;21876188;21044950 200895 C9JJ68;Q86XF0 ABBA01026969;AC130896;AK122674;AL832912;AMYH01013339;AW104373;BC045541;BC063379;CH471052;NM_001195643;NM_176815 AAH45541;AAH63379;ADQ32471;BAG53658;CAH10617;EAW79895;EAW79896;NP_001182572;NP_789785;Q86XF0 Hs.718516 1685828;1770948;2140677;5016769;5113659;5120544;5126841 GDB:344962;PMC149466P8;RH68956;RH69370;RH79212;SHGC-30466;SHGC-36500 DHFRP4;FLJ16119 OTTHUMP00000213863;OTTHUMP00000213864;OTTHUMP00000213865;OTTHUMP00000213866;dihydrofolate reductase pseudogene 4;dihydrofolate reductase, mitochondrial;dihydrofolate reductase-like protein 1 protein-coding ENSG00000178700 27309 11246 VALIDATED 1312453 DGUOK deoxyguanosine kinase In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 2 2 p13 74007461 74039596 + 74153953 74186088 + 1580863;1601052;6480464;6907045;7240710 11687800 8692979;18600530;18205204;17490647;17073823;17065091;15883261;15639197;15489334;12535661;12477932;12210798;12205643;12054684;11427893;11337467;11294860;10951205;8975728;8706825;21107780;21546767;20843780;15150663;19394258;19502998;19900589;20877624;22990118;23043144;21832049;21988832;23000965;21890473;21906983;20301766;22318606;23273568;22505724 1716 C9JFV8;E5KSL5;E5KSL6;Q16854;Q7L1W9 ABBA01075593;AC073046;AI201630;AMYH01010448;AU099795;BC001121;BC015757;BC024019;BG708680;BU580854;CH471053;HQ206026;HQ206027;HQ206028;HQ206029;HQ206030;HQ206031;HQ206032;HQ206033;HQ206034;HQ206035;HQ206036;HQ206037;HQ206038;HQ206039;HQ206040;HQ206041;HQ206042;HQ206043;HQ206044;HQ206045;HQ206046;HQ206047;HQ206048;HQ206049;HQ206050;HQ206051;HQ206052;HQ206053;HQ206054;HQ206055;HQ206056;HQ206057;HQ206058;HQ206059;HQ206060;HQ206061;HQ206062;HQ206063;HQ206064;HQ206065;NG_008044;NM_080916;NM_080918;U41668;U62042;U81499 AAB39858;AAB48932;AAC50624;AAH01121;AAH15757;AAH24019;AAX88910;ADP91894;ADP91895;ADP91896;ADP91897;ADP91898;ADP91899;ADP91900;ADP91901;ADP91902;ADP91903;ADP91904;ADP91905;ADP91906;ADP91907;ADP91908;ADP91909;ADP91910;ADP91911;ADP91912;ADP91913;ADP91914;ADP91915;ADP91916;ADP91917;ADP91918;ADP91919;ADP91920;ADP91921;ADP91922;ADP91923;ADP91924;ADP91925;ADP91926;ADP91927;ADP91928;ADP91929;ADP91930;ADP91931;ADP91932;ADP91933;ADP91934;ADP91935;ADP91936;ADP91937;ADP91938;ADP91939;ADP91940;ADP91941;ADP91942;ADP91943;ADP91944;ADP91945;ADP91946;ADP91947;ADP91948;ADP91949;ADP91950;ADP91951;ADP91952;ADP91953;ADP91954;ADP91955;ADP91956;ADP91957;ADP91958;ADP91959;ADP91960;ADP91961;ADP91962;ADP91963;ADP91964;ADP91965;ADP91966;ADP91967;ADP91968;ADP91969;ADP91970;ADP91971;ADP91972;ADP91973;EAW99704;EAW99709;EAW99710;NP_550438;NP_550440;Q16854 Hs.469022 1797092;1852784 DGUOK;WI-12391 MTDPS3;dGK OTTHUMP00000160251;OTTHUMP00000160252;deoxyguanosine kinase, mitochondrial;mitochondrial deoxyguanosine kinase APPROVED protein-coding ENSG00000114956 2858 03273 251880;601465 REVIEWED 1346952 DHOF dermal hypoplasia, focal 7240710 1724 2868 305600 731755 DHCR7 7-dehydrocholesterol reductase This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009] 11 11 q13.4 70823105 70837125 - 71145457 71159477 - 734884;1580863;1600899;1300048;2316918;2316868;2316857;6480464;7240710 11230174;9683613;9831636;12668600;16876788 17353931;9465114;17965227;17855807;17595012;17441222;16497572;16344560;15979035;15954111;15776424;15521979;15489334;15286151;14981719;14556255;12949967;12833423;12794707;12477932;12116246;11857552;11767235;11562938;11503168;11427181;11298379;11175299;11161831;11111101;11078571;10995508;10814720;10719329;10677299;10602371;9653161;9634533;7560069;9878250;19336370;18660489;18249054;18006960;21441443;19913121;20628086;20634891;19365639;19390132;19406241;19598235;19940018;20418485;20541252;20635399;20301322;22576297;22801813;16196087;21963094;22678362;21139048;21890473;21906983;21987572;22130326;21972121;22390397;22182693;22211794;22505724;21696385 1717 E9PIP9;E9PJ54;E9PLZ2;E9PM00;E9PMT8;E9PQ71;E9PRL8;H0YCS7;H0YE57;H0YEJ5;Q9UBM7 ABBA01017551;AF034544;AF062481;AF067127;AF096305;AF110060;AI888720;AK289497;AK303881;AK309625;AK312775;AMYH01003786;AP002387;BC000054;BU848891;CH471076;DA502590;NG_012655;NM_001163817;NM_001360 AAC05086;AAC18345;AAD02816;AAD09766;AAD24762;AAH00054;ABM82753;ABM85940;BAF82186;BAG35639;BAG64817;EAW74788;EAW74789;EAW74790;EAW74791;NP_001157289;NP_001351;Q9UBM7 Hs.503134 1722417;1737807;1774111;2108011;2119343;2126969;5017943 D10S2392;D11S3420;DHCR7_8297;G60282;MARC_54881-54882:1155673275:1;WI-13500;WI-16597 SLOS 7-DHC reductase;7-dehydrocholesterol reductase;OTTHUMP00000235751;OTTHUMP00000235752;OTTHUMP00000235756;delta-7-dehydrocholesterol reductase;putative sterol reductase SR-2;sterol Delta(7)-reductase;sterol delta-7-reductase APPROVED protein-coding ENSG00000172893 2860 04174 270400;602858 REVIEWED 1342824 DHFRP1 dihydrofolate reductase pseudogene 1 18 18 q11.2 22001808 22005319 - 23747826 23751321 - 6961421;6306253;12657784;12925791;15039552;12096917;15489334;15681865;16222560;1731871;17569517;19196009;19478082;19719239;2248959;3383852;6235374;6323448;6687716;7890613;9374868;9719595;22201119;3341383 573971 AC016839;AMYH01008900;J00141;NG_005427 P00374 1685271;1792108;1792370;1793876;1794924;1795044 PMC137126P1;PMC149466P9;PMC303366P3;PMC85091P1;PMC89807P1;RH70434 pseudo 2862 INFERRED 736871 DHFR dihydrofolate reductase Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. [provided by RefSeq, Jul 2008] 5 5 q11.2-q13.2 79957801 79986556 - 79922045 79950800 - 1580863;1298877;6480464;6907045;7240710;7242557;7242561 11502523;22108709;22332074 18498051;3383852;6687716;19527514;19493349;19461557;19353223;19336370;19161160;19064578;19064572;19055622;19048631;19022952;19019335;18988749;18818748;18799873;18785313;18682947;18676680;18636124;18451149;18247058;18093916;18056255;18045573;17917571;17683969;17597297;17486595;17449906;17413111;17336564;17237763;16969375;16735474;16467096;16124424;16116078;15817466;15755837;15489334;14735580;14679136;14664697;12812497;12788094;12612070;12588981;12477932;12384595;12096917;12084458;11996001;11964483;11779239;11448909;10898545;10749676;9374868;9119086;8976559;8559246;8527095;6750132;6504041;6323448;6306253;6235374;3185016;2859520;2592384;2248959;1935897;1731871;19913121;20544798;20615890;20628086;20634891;20670920;20737570;22994778;15039552;19170196;19196009;19360472;19533788;19536847;19578876;19625176;19666584;19683694;19692168;19706381;19727391;19776634;19861437;19898482;20031554;20237949;20347265;20472929;20834190;20948192;21310276;21310277;21120433;16196087;21857842;22024482;22005284;22324981;20639865;19471022;21890473;21906983;21963094;23000965;23053953;22954684;22505724;22797925;23197646 1719 B0YJ76;B4DDD2;B4DM58;P00374 AA489055;ABBA01062044;ABBA01062045;AC008434;AC010270;AK293146;AK297302;AK308492;AK312642;AMYH01015445;BC000192;BC003584;BC009634;BC070280;BC071996;CB988944;CH471084;EU145592;J00139;J00140;NG_023304;NM_000791;V00507;X00855 AAA58484;AAA58485;AAH00192;AAH03584;AAH70280;AAH71996;ABM83742;ABM87061;ABX57718;BAG35526;BAG56693;BAG59770;CAA23765;CAA25409;EAW95859;EAW95860;NP_000782;P00374 Hs.592364;Hs.648635 1685271;1792108;1792356;1792358;1792360;1792370;1793876;1794924;1795044;2114875;5014479;5015961;5016769;5023539;5037552;5113655;5113659;5120544;5126841 D15S1477;D8S2279;GDB:344962;PMC137126P1;PMC149466P1;PMC149466P2;PMC149466P3;PMC149466P8;PMC149466P9;PMC303366P3;PMC316374P5;PMC85091P1;PMC89807P1;RH68956;RH69621;RH70434;RH79212;STS-AA010576;WI-18379 DHFRP1;DYR OTTHUMP00000222282;OTTHUMP00000222283;OTTHUMP00000222285;OTTHUMP00000222286;dihydrofolate reductase APPROVED protein-coding ENSG00000228716 2861 00519 126060;613839 REVIEWED 1323083 DHDDS dehydrodolichyl diphosphate synthase The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p36.11 25156022 25195012 + 26631389 26670384 + 26758773 26797797 + 6480464;6907045 15110773;15850770;15489334;14702039;14652022;12591616;12477932;20379614;20736409;21295282;21295283;21987572;21906983;20301590;21963094;22505724 79947 E9PI09;E9PI64;E9PKJ5;E9PL99;E9PR24;E9PRS7;E9PSH7;H0Y4T1;Q5T0A0;Q5T0A1;Q5T0A2;Q5T0A3;Q5T0A6;Q8NE90 AB090852;ABBA01034910;AK023164;AK297134;AK308187;AK316485;AL513365;AMYH01000401;AW294595;BC003643;BC004117;BC034152;BQ028814;BX648507;CH471059;FB335092;FB335138;GU727641;HH766431;HH766477;NG_029786;NM_001243564;NM_001243565;NM_024887;NM_205861 AAH03643;AAH04117;AAH34152;ADU87642;ADZ15897;BAB14439;BAC57588;BAH12505;BAH14856;CAR80515;CAR80538;CBX83986;CBX84009;EAX07806;EAX07807;EAX07808;EAX07809;EAX07810;EAX07811;EAX07812;NP_001230493;NP_001230494;NP_079163;NP_995583;Q86SQ9 Hs.369385 1744663;1748853 GDB:549187;SHGC-110517 CIT;CPT;DS;FLJ13102;HDS;RP59 OTTHUMP00000003664;OTTHUMP00000003665;OTTHUMP00000038071;OTTHUMP00000038072;OTTHUMP00000038073;OTTHUMP00000234798;OTTHUMP00000234799;cis-IPTase;cis-isoprenyltransferase;cis-prenyl transferase;dedol-PP synthase;dehydrodolichyl diphosphate synthase;epididymis tissue protein Li 189m APPROVED protein-coding ENSG00000117682 20603 12183 608172;613861 REVIEWED 1345874 DHH desert hedgehog This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010] 12 12 q13.1 47769471 47774869 - 49483204 49488602 - 1601053;1580863;5510013;5510025;6480464;6484113;6907045;7240710 11017805;20716670;20844013 19074837;18788453;16390857;15839736;15489334;12477932;11990454;11435703;10773676;10640830;10050855;9811851;22318606;19561611;20081366;21193222;22514309;21816240;15356051;22123293;20301714;22504420 50846 O43323 AB010994;ABBA01031503;AC011603;AK313360;AMYH01004438;BC033507;CH471111;CS126483;CS464813;HQ607677;HQ607678;NG_008973;NM_021044;U59748 AAB03398;AAH33507;AEF38366;AEF38367;BAA24866;BAG36160;CAJ18811;CAM31804;EAW58039;NP_066382;O43323 Hs.524382 1728981;2162745 Dhh;RH47641 GDXYM;HHG-3;MGC35145;SRXY7 OTTHUMP00000243727;desert hedgehog homolog;desert hedgehog protein;mutant desert hedgehog APPROVED protein-coding ENSG00000139549 2865 05664 233420;605423;607080 REVIEWED 1605940 DHRS12 dehydrogenase/reductase (SDR family) member 12 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 13 13 13 q14.3 33391333 33426929 - 51240132 51276294 - 52342129 52378298 - 6480464 19027726;14702039;12477932;17403666;17207965 79758 A0PJE2 AA831151;ABBA01051051;AK023701;AL136525;AL162377;AMYH01005116;BC009825;BC026024;CH471075;DB481446;HH961766;NM_001031719;NM_001270424;NM_024705;R60032 A0PJE2;AAH09825;AAH26024;ADQ31839;BAB14646;CBX51356;EAX08884;EAX08885;EAX08886;EAX08887;EAX08888;EAX08889;NP_001026889;NP_001257353;NP_078981 Hs.266728 1698290;1721765;1736346;1738411;1738433;1762607;1847693;2111896;2123541;2148697 D13S201;D13S670E;D13S683E;D13S854E;G59751;HSC15G062;RH102682;SHGC-146411;STS-N21417;WI-21955 FLJ13639;SDR40C1 OTTHUMP00000018441;OTTHUMP00000215088;OTTHUMP00000215089;dehydrogenase/reductase SDR family member 12;short chain dehydrogenase/reductase family 40C, member 1 APPROVED protein-coding ENSG00000102796 25832 07833 REVIEWED 1603266 DHRS13 dehydrogenase/reductase (SDR family) member 13 17 17 17 q11.2 24084215 24089505 - 24248925 24254215 - 27224799 27230089 - 6480464 19027726;12975309;12477932;21890473;22505724 147015 B4DJC5;Q6UX07 ABBA01015037;AC024267;AK296017;AMYH01008285;AY358566;BC015582;BQ052759;CH471159;NM_144683 AAH15582;AAQ88929;BAG58787;EAW51153;EAW51159;NP_653284;Q6UX07 Hs.631760 1681809;1687383 RH17814;RH78255 MGC23280;SDR7C5 OTTHUMP00000163521;OTTHUMP00000163522;dehydrogenase/reductase SDR family member 13;short chain dehydrogenase/reductase family 7C, member 5 protein-coding ENSG00000167536 28326 14488 VALIDATED 1602903 DHPS deoxyhypusine synthase This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011] 19 19 p13.2 12647534 12653677 - 12786531 12792701 - 6480464 12477932;16452303;14622290;8549832;7673224;19055622;17353931;16189514;15489334;15100216;14749535;12788913;12562768;10229683;9666110;9493264;9110174;8812510;8619474;8615810;7929297;7750572;19060904;16159877;17207965;16344560;17476569;19997760;22491477;22863883;22927971;20439316;21139048;21890473;21906983;22505724 1725 B4E3M2;M0QX43;M0QXT2;M0QYZ7;M0QZT3;M0R0J4;M0R0V2;M0R1T2;M0R1T4;M0R253;M0R264;P49366;Q5J8M5 ABBA01029781;ABBA01029782;AC010422;AJ001701;AK291553;AK300498;AK304780;AL520040;AMYH01009494;AW250887;AY336090;BC000333;BC014016;BU844677;CH471106;DA524549;L39068;NM_001206974;NM_001930;NM_013406;NR_038192;U26266;U32178;U40579;U79262 AAA86282;AAA96151;AAB02175;AAB02179;AAB50208;AAH00333;AAH14016;AAR24620;ACE86483;ACE87164;ADQ32057;BAF84242;BAG62212;BAG65534;CAA04940;EAW84287;EAW84288;EAW84289;EAW84290;EAW84291;EAW84292;EAW84293;EAW84294;NP_001193903;NP_001921;NP_037538;P49366 Hs.79064 1734672;2118878;2145110 D19S623E;D19S677E;WI-19573 DHS;DS;MIG13 DHS;deoxyhypusine synthase;migration-inducing gene 13 APPROVED protein-coding ENSG00000095059 2869 02969 600944 REVIEWED 68497 DHODH dihydroorotate dehydrogenase (quinone) The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008] 16 16 q22 70600144 70616456 + 72042643 72059316 + 1580863;2316231;2316235;5133412;5132591;5132618;6480464;6907045 15182735;9918599;15096496;1476792;6331524 11012787;19207032;18951430;18672895;17004840;16344560;16341674;15489334;14702039;12477932;12052230;11248707;10727948;10673429;9693067;8925840;8211381;7487077;1446837;21430780;20877624;20399851;19605743;19915526;20220176;22692683;22939629;22967083;21906983;21988832;22966891 1723 I3L449;I3NI32;J3QRJ4;J3QRQ3;Q02127 ABBA01016796;AC009087;AC009127;AI499306;AK097300;AK292293;AMYH01007795;AU130529;AU152444;BC065245;BE789211;BI253747;BM795077;CH471166;M94065;NG_016271;NM_001361 AAA50163;AAH65245;BAF84982;EAW59198;EAW59199;EAW59200;EAW59201;NP_001352;Q02127 Hs.654427 1659457;1682199;2148176;2218484 D16S2969;DHODH_4702;RH98941;SHGC-61050 DHOdehase;POADS;URA1 dihydroorotate dehydrogenase (quinone), mitochondrial;dihydroorotate dehydrogenase, mitochondrial;dihydroorotate oxidase;human complement of yeast URA1 APPROVED protein-coding ENSG00000102967 2867 00521 126064;263750 REVIEWED 1601851 DHRS11 dehydrogenase/reductase (SDR family) member 11 17 17 17 q12 31770502 31779510 + 32022339 32031346 + 34948226 34957233 + 6480464 19027726;15489334;14702039;12975309;12477932 79154 K7EJP4;K7EK68;K7END9;Q6UWP2 AB209247;ABBA01012428;AC003042;AK026196;AK096551;AK315735;AMYH01008361;AY358712;BC002731;BG037061;CH471199;CR457356;HB961756;HD019166;NM_024308 AAH02731;AAQ89074;BAB15390;BAD92484;BAG38090;CAG33637;CBG15501;CBV28947;EAW57568;EAW57569;EAW57570;NP_077284;Q6UWP2 Hs.462859 2120713;2160516 RH78009;STS-T49181 ARPG836;FLJ39232;MGC4172;SDR24C1 OTTHUMP00000164066;dehydrogenase/reductase SDR family member 11;short chain dehydrogenase/reductase family 24C, member 1;short-chain dehydrogenase/reductase protein-coding ENSG00000108272 28639 08331 VALIDATED 1351560 DHRS4-AS1 DHRS4 antisense RNA 1 14 14 q11.2 4270576 4286934 - 24407940 24424298 - 737633;6480464 12477932 16344560;22891334 55449 Q86U40;Q9P1J3 ABBA01061328;AF116636;AL136419;AMYH01005606;BC013143;BC062348;BC080582;BF206895;BX247982;BX447332;BX647964;DA439818;DB254318;HQ845197;HQ845198;JQ979294;NR_023921;NR_023922;NR_023923;NR_023924 AAF71059;CAD62316;Q9P1J3 Hs.569361 2126136;2156684;5109839 D17S877;G35610;RH69512 AS1DHRS4;C14orf167;PRO1488 APPROVED miscrna ENSG00000215256 23175 VALIDATED 1352104 DHRS1 dehydrogenase/reductase (SDR family) member 1 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 14 14 14 q12 4624421 4633663 - 23829646 23838506 - 24759804 24769039 - 6480464 18029348;11256614;19027726;16381901;16344560;22318606;21319273;16189514;15489336;15489334;14702039;12477932;12153138;11230166;11076863;20877624;21139048;21890473;21906983;22053931 115817 H0YNC2;Q96LJ7 ABBA01061340;AF418205;AK058159;AK126383;AL050217;AL096870;AL833917;AMYH01005611;BC014057;BC015943;BC036845;BX247980;CH471078;DB272453;NM_001136050;NM_138452 AAH14057;AAH15943;AAN32660;BAB71694;CAD38773;CAD62314;CAL37921;CAL38469;EAW66036;EAW66037;EAW66038;EAW66039;EAW66040;NP_001129522;NP_612461;Q96LJ7 Hs.348350 1696450;1712298;1736442;1767271;2110363;2139970;2139972;2186099;5014029;5022578;5118576 A002B19;D11S3430;D13S1639;D14S704E;D1S1423;DHRS1_8127;G19887;G54058;RH78575;SHGC-31972;SHGC-79760 DKFZp586I0523;FLJ14250;FLJ25430;MGC20204;SDR19C1 OTTHUMP00000028176;OTTHUMP00000164786;dehydrogenase/reductase SDR family member 1;short chain dehydrogenase/reductase family 19C, member 1 APPROVED protein-coding ENSG00000157379 16445 09914 610410 REVIEWED 1352138 DHRS4L1 dehydrogenase/reductase (SDR family) member 4 like 1 14 14 q11.2 23575550 23590420 + 24505710 24520580 + 70713 10333503 12477932;12508121;23036705;20525226;23000965 728635 P0CG22 ABBA01061329;ABBA01061330;AL136295;AL136419;AMYH01005609;BC171914;BC171918;DA776573;GQ871921;GQ871922;GQ871923;GQ871924;GQ871925;GQ871926;NM_001082488;NM_001277864;NR_102687;NR_102688;NR_102689;NR_102691;NR_102692;NR_102693;NR_102694 NP_001075957;NP_001264793;P0CG22 Hs.647569;Hs.743442 5023323;5111563 SHGC-64141;T15928 SDR25C4 Putative dehydrogenase/reductase SDR family member 4-like 2;dehydrogenase/reductase (SDR family) member 4 like 1;short chain dehydrogenase/reductase family 25C, member 4 protein-coding 19732 615195 VALIDATED 1321774 DHRS2 dehydrogenase/reductase (SDR family) member 2 14 14 14 q11.2 3968304 3977579 + 23175422 23184688 + 24105573 24114848 + 1580863;6480464 16685466;7556196;11944995;1847869;11997086;19027726;15489334;14702039;12477932;8125298;20547751;16367916;19443906;17207965;20949095;15047060;17620599;21139048;21890473;21988832;23000965;23036705 10202 C9JZP6;H0YJG9;H0YJP4;Q13268 AB209653;ABBA01061325;AF244132;AK000345;AK092834;AK222857;AK309945;AK309975;AL135999;AMYH01005604;BC002786;BC007339;CH471078;NM_005794;NM_182908;U31875 AAA82048;AAG33703;AAH02786;AAH07339;ADQ32908;BAD92890;BAD96577;EAW66130;EAW66131;NP_005785;NP_878912;Q13268 Hs.272499 2157735;2165883;2217254;5019549 DHRS2_3522;G49463;RH47141;RH71221 FLJ20338;HEP27;SDR25C1 OTTHUMP00000164601;OTTHUMP00000164602;OTTHUMP00000246278;OTTHUMP00000246283;OTTHUMP00000246284;dehydrogenase/reductase SDR family member 2;dehydrogenase/reductase SDR family member 2, mitochondrial;dehydrogenase/reductase member 2;dicarbonyl reductase HEP27;protein D;short chain dehydrogenase/reductase family 25C, member 1;short-chain alcohol dehydrogenase family member protein-coding ENSG00000100867 18349 07483 615194 VALIDATED 1313699 DHRS3 dehydrogenase/reductase (SDR family) member 3 Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] 1 1 1 p36.1 11739647 11790328 - 12550526 12600407 - 12627939 12677820 - 1580863;6480464;6907045 9705317;19027726;18676742;17286855;16710414;15489334;12975309;12477932;12226107;11861404;10800688;8125298;20379614;20543567;21890473;21906983;21659514;19322201 9249 O75911;Q5SUY4 ABBA01003089;ABBA01003090;ABBA01003091;ABBA01003092;ABBA01003093;ABBA01003094;AF061741;AF179237;AK222593;AK225057;AK310202;AK312961;AL039062;AL513016;AL592487;AL645761;AMYH01000261;AY358093;BC002730;BF037805;BX648476;CH471130;DQ426869;NM_004753 AAC63263;AAD55402;AAH02730;AAQ88460;ABD90534;ABM83932;ABM87251;BAD96313;BAG35800;CAI46033;EAW71743;NP_004744;O75911 Hs.289347 1339850;1682009;1712132;1733088;2115912;2122503;2129916;2145478 D1S1422;D1S2718;D1S3510;G34854;G54116;RH91384;SHGC-74223;WI-16826 DD83.1;RDH17;Rsdr1;SDR1;SDR16C1;retSDR1 DD83.1;OTTHUMP00000001866;retinal short-chain dehydrogenase/reductase 1;short chain dehydrogenase/reductase family 16C, member 1;short-chain dehydrogenase/reductase 1;short-chain dehydrogenase/reductase 3 APPROVED protein-coding ENSG00000162496 17693 09915 612830 VALIDATED 732149 DHRS4 dehydrogenase/reductase (SDR family) member 4 14 14 14 q11.2 4285601 4303126 + 23492805 23508328 + 24422965 24438488 + 70713;1580863;6480464;6907045 10333503 19027726;18754758;18571493;17230527;15489334;15473316;14702039;12975309;12477932;20525226;18029348;20877624;22891334;20178365;17461779;19442656;21525035;22002062;23000965;23128527;23036705;19056333 10901 E2QRI3;F5GWZ1;H0YNP7;H7BYG2;J3QST2;Q2LE81 AA639837;AB045131;ABBA01061328;AF044127;AF064256;AK001870;AK308436;AK314448;AL136419;AMYH01005606;AMYH01005607;AY071856;AY358638;AY616182;BC003019;BQ030242;BU529016;DQ325464;DQ338571;DQ344810;NM_021004 AAD02292;AAH03019;AAL61824;AAQ13444;AAQ89001;AAT70757;ABC61320;ABC61321;ABD75823;BAA91953;BAB18775;BAG37057;NP_066284;Q9BTZ2 Hs.528385 2129672;2134695;2181368;2217256;5023323;5111563 A007G16;DHRS4L2_3647;G31120;RH44509;SHGC-64141;T15928 CR;DHRS4L2;FLJ11008;NRDR;PHCR;PSCD;SCAD-SRL;SDR-SRL;SDR25C1;SDR25C2;humNRDR CR;NADP-dependent retinol dehydrogenase;NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase;NADPH-dependent retinol dehydrogenase/reductase;OTTHUMP00000164690;PHCR;PSCD;carbonyl reductase;dehydrogenase/reductase (SDR family) member 4 like 2A;dehydrogenase/reductase SDR family member 4;peroxisomal short-chain alcohol dehydrogenase;short chain dehydrogenase/reductase family 25C, member 1;short chain dehydrogenase/reductase family 25C, member 2;short-chain dehydrogenase/reductase family member 4 protein-coding ENSG00000157326 16985 07484 611596 VALIDATED 1317663 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013] 10 10 10 p14 12040496 12094736 + 12150940 12205230 + 12110934 12165224 + 737633;1580863;6480464 12477932 10997877;8889549;16385451;16712791;20800603;20877624;23141293;23141294;18004749 55526 C9JWN1;H7C149;H7C1J3;Q96HY7 AA009773;AA393480;ABBA01034672;ABBA01034673;ABBA01034674;ABBA01034675;AC073160;AI823832;AK309810;AL359587;AMYH01002030;AW083293;BC002477;BC007955;BG469693;BI333272;BQ420710;BU187564;BU855972;BU927608;CB134342;CF593518;CH471072;CR749726;HY039281;NG_033248;NM_018706;R72130 AAH02477;AAH07955;CAH18489;EAW86327;NP_061176;Q96HY7 Hs.104980;Hs.568075 1654332;1680074;2130288;5015404;5015619;5015961;5016478;5017170;5019070;5020881;5020946;5024413;5037552 AFMa204we1;D11S3114;D15S1477;D8S2279;G44334;GDB:434012;L17705;L17709;L17877;L17971;L29953;RH45422;RH94270 AMOXAD;CMT2Q;DKFZp762M115;KIAA1630;MGC3090 OTTHUMP00000019087;dehydrogenase E1 and transketolase domain-containing protein 1;probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial protein-coding ENSG00000181192 23537 09917 204750;614025;614984;615025 REVIEWED 1602060 DHRS7C dehydrogenase/reductase (SDR family) member 7C 17 17 17 p13.1 9707201 9727047 - 9615480 9635326 - 9674751 9694614 - 6480464 22143674;19027726;12477932 201140 A6NNS2;B9EJH3;I3NI52 ABBA01054962;AC027045;AI091419;AI168267;AMYH01008102;BC147024;BC147025;BC171909;DN831946;DN831947;NM_001105571;NM_001220493 A6NNS2;AAI47025;AAI47026;AAI71909;NP_001099041;NP_001207422 Hs.61684 1690530 RH79746 SDR32C2 dehydrogenase/reductase SDR family member 7C;short chain dehydrogenase/reductase family 32C, member 2 protein-coding ENSG00000184544 32423 VALIDATED 1353509 DHRS4L2 dehydrogenase/reductase (SDR family) member 4 like 2 This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 14 14 14 q11.2 4303721 4385062 + 23527867 23545457 + 24439083 24475617 + 6907045 16204458;12477932;17207965;10333503;12508121;12975309;14702039;15473316;15489334;16344560;17230527;18754758;20525226;23000965;23036705 317749 D3YTE6;D5KJA1;D5KJA2;E9PFL3;F5H660;F6TD35;H0YKN3;H0YLE1;H0YN69;Q6E0Y0;Q6PKH6 ABBA01061328;ABBA01061329;AI087304;AK021587;AK301373;AL136419;AMYH01005607;AMYH01005608;AY616183;AY920361;AY920362;AY943857;BC000663;BC006125;BC101812;BC101814;DA738374;DB449220;DN237881;DN237882;DQ088987;DQ088988;GU564234;GU564235;KC237375;NG_023545;NM_001193635;NM_001193636;NM_001193637;NM_198083 AAH00663;AAT70758;AAX49568;AAZ85982;ADD92526;ADD92527;ADQ32943;AGJ72857;BAG62915;NP_001180564;NP_001180565;NP_001180566;NP_932349;Q6PKH6 Hs.743442 1764345;2129672;2134695;2153049;2156684;2157872;2181368;2217256;5022651;5023323;5111563 A007G16;D11S2921;DHRS4L2_3647;G31120;G35550;G35610;G36263;RH44509;SHGC-147946;SHGC-64141;T15928 FLJ11525;MGC905;SDR25C3 NADP(H)-dependent retinol dehydrogenase/reductase short isoform-like protein;OTTHUMP00000027962;dehydrogenase/reductase (SDR family) member 4 like 2A3;dehydrogenase/reductase SDR family member 4-like 2;short chain dehydrogenase/reductase family 25C, member 3 APPROVED protein-coding ENSG00000187630 19731 10880 615196 REVIEWED 1317573 DHRS7 dehydrogenase/reductase (SDR family) member 7 Short-chain dehydrogenases/reductases (SDRs), such as DHRS7, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] 14 14 14 q23.1 40661330 40682046 - 59681252 59701857 - 60611496 60632211 - 1580863;6480464 19027726;15489334;12975309;12508121;12477932;10810093;10800688;21139048;21890473;21906983;22036096;22053931 51635 G3V5J0;H0YJ66;H0YJE4;H0YJR8;Q9Y394 ABBA01018278;AF126782;AF151844;AK313285;AL117420;AL163853;AMYH01005766;AW161450;AY359031;BC000637;BC007337;CH471061;NM_016029 AAD34081;AAF06941;AAH00637;AAH07337;AAQ89390;BAG36093;CAH56402;EAW80769;EAW80770;NP_057113;Q9Y394 Hs.59719 1693568;2164822;2174392 A002Q08;G36315;SHGC-58476 CGI-86;SDR34C1;retDSR4;retSDR4 2310016E22Rik;OTTHUMP00000179038;OTTHUMP00000245172;OTTHUMP00000246874;dehydrogenase/reductase SDR family member 7;retinal short-chain dehydrogenase/reductase 4;short chain dehydrogenase/reductase family 34C, member 1 APPROVED protein-coding ENSG00000100612 21524 16802 612833 VALIDATED 1601764 DHRS7B dehydrogenase/reductase (SDR family) member 7B This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] 17 17 17 p12 21447631 21512215 - 20970850 21035428 + 21030241 21095285 + 6480464 19027726;12975309;12477932;11230166;10810093;16169070;19615732;22990118;14702039;21832049;22939629;16344560;21139048;21890473;21906983;22797925 25979 J3KRS1;J3QKT1;J3QLJ8;J3QLK1;Q6IAN0 ABBA01050458;ABBA01050459;ABBA01050460;AC087393;AF151851;AI018764;AK124055;AK309867;AL117567;AMYH01008268;AY358498;BC004126;BC009679;BI460496;BQ181209;CH471210;CR457124;DA653503;NM_015510 AAD34088;AAH04126;AAH09679;AAQ88862;CAB55997;CAG33405;EAX02596;EAX02597;NP_056325;Q6IAN0 Hs.386989 1675967;2128030;5015961;5022200;5022578;5037552;5109281 D15S1477;D1S1423;D1S1425;D8S2279;L18426;RH65109;RH75346 CGI-93;DKFZp566O084;FLJ42061;FLJ99908;MGC8916;SDR32C1 dehydrogenase/reductase SDR family member 7B;short chain dehydrogenase/reductase family 32C, member 1 APPROVED protein-coding ENSG00000109016 24547 13215 VALIDATED 736293 DHRS9 dehydrogenase/reductase (SDR family) member 9 2 2 2 q31.1 163546627 163578019 + 169629545 169660923 + 169921299 169952677 + 6480464;6771322;6484672;6771354;6907045 15950969;21621639;21138835 11294878;11304534;19027726;17244623;16344560;15489334;15190067;12975309;12618084;12477932;10800688;17207965 10170 B7Z416;C9J430;Q9BPW9 ABBA01004962;AC007556;AC008177;AF067174;AF240697;AF240698;AF295380;AF343729;AF529286;AF529287;AF529288;AK296625;AK313220;AMYH01011242;AY017349;AY359046;BC040380;BC051797;BC058883;CA307349;CH471058;DB010228;NM_001142270;NM_001142271;NM_005771;NM_199204 AAD32458;AAF82747;AAF82748;AAG49422;AAH58883;AAK37528;AAL37037;AAN04008;AAN04009;AAN04010;AAQ89405;AAX88964;AAY24306;ACT64548;ACT64549;ADQ32590;BAG36032;BAH12402;EAX11282;EAX11283;EAX11284;NP_001135742;NP_001135743;NP_005762;NP_954674;Q9BPW9 Hs.179608 1645009;1707986;2107015 D2S2075;DHRS9_3520.2;SHGC-84657 3ALPHA-HSD;RDH-TBE;RDH15;RDHL;RDHTBE;RETSDR8;SDR9C4 3-alpha hydroxysteroid dehydrogenase;3-alpha-HSD;NADP-dependent retinol dehydrogenase/reductase;OTTHUMP00000163043;OTTHUMP00000204923;OTTHUMP00000204925;OTTHUMP00000204926;OTTHUMP00000205057;RDH-E2;dehydrogenase/reductase SDR family member 9;retinol dehydrogenase homolog;short chain dehydrogenase/reductase family 9C, member 4;short-chain dehydrogenase/reductase retSDR8;tracheobronchial epithelial cell-specific retinol dehydrogenase protein-coding ENSG00000073737 16888 09916 612131 VALIDATED 1344855 DHRSX dehydrogenase/reductase (SDR family) X-linked X X;Y X;Y p22.33; Yp11.2 6417033 6699196 - 2147547 2428975 - 2087547 2369015 - 1580863;6480464 19027726;18029348;16341674;15489334;12975309;12477932;11731500;21832049 207063 C9JB06;C9JRH1;H7C5T6;H7C613;Q8N5I4 ABBA01038574;ABBA01038575;ABBA01038576;ABBA01038577;ABBA01038578;ABBA01038579;ABBA01038580;ABBA01038581;ABBA01038582;ABBA01038583;ABBA01038584;ABBA01038585;ABBA01038586;ABBA01038587;ABBA01038588;ABBA01038589;ABBA01038590;ABBA01038591;ABBA01038592;ABBA01038593;ABBA01038594;ABBA01038595;ABBA01038596;ABBA01038597;AC079176;AJ293620;AL137300;AMYH01022009;AMYH01022010;AMYH01022011;AMYH01022012;AY358849;BC009269;BC019696;BC032340;BG703185;BM794858;BX119919;BX649443;CH471074;CR381696;CR856018;NM_145177 AAH19696;AAH32340;AAQ89208;ABM82539;ABM85731;CAB70685;CAC82170;EAW98693;NP_660160;Q8N5I4 Hs.131452 1676416;1678659;1679842;1702108;1702268;1702570;1702890;1702928;1731110;1754779;1760453;1787442;1787446;1787458;1853341;2122109;2127327;2172178;2188063;2188065;2188067;2188071;2188073;2188075;2188079;2188081;2188085;5017881;7187872 D10S306;DXS7290;DXYS102;DXYS104;DXYS147;DXYS148;DXYS92;G66037;G66038;G66039;G66041;G66042;G66043;G66045;G66046;G66048;RH38668;RH38669;RH64920;RH65160;RH76391;SHGC-143014;SHGC-146313;SHGC-149962;SHGC-155454;SHGC-58223;UniSTS:99122;ZBED1 CXorf11;DHRS5X;DHRS5Y;DHRSXY;DHRSY;SDR46C1 OTTHUMP00000022838;OTTHUMP00000070385;dehydrogenase/reductase (SDR family) X chromosome;dehydrogenase/reductase (SDR family) Y-linked;dehydrogenase/reductase SDR family member on chromosome X;short chain dehydrogenase/reductase family 46C, member 1 protein-coding ENSG00000169084 18399 16803 VALIDATED 1318664 DHX29 DEAH (Asp-Glu-Ala-His) box polypeptide 29 5 5 5 q11.2 51504864 51556336 - 54587830 54639278 - 54552073 54603521 - 1580863;6480464 9110174;16169070;19109895;16964243;15489334;15302935;12477932;8619474;21145461;20877624;20018725;22939629;23047696;21139048;21890473;21906983;22505724 54505 H0Y8L1;Q7Z478 ABBA01015739;AC020728;AC026704;AF070639;AK025145;AK308332;AL079292;AL834496;AMYH01015089;AY036974;BC035988;BC056219;BX648101;BX648269;BX648688;BX649135;CH471123;NM_019030 AAC25394;AAH56219;AAK64516;CAB45191;CAD39154;CAH56153;CAH56172;EAW54915;EAW54916;EAW54917;EAW54918;NP_061903;Q7Z478 Hs.744056 1686280;1855521;2174714 RH81061;WI-14214;WI-17946 DDX29;FLJ21492 ATP-dependent RNA helicase DHX29;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29;DEAH box protein 29;OTTHUMP00000221887;nucleic acid helicase DDXx protein-coding ENSG00000067248 15815 10882 612720 VALIDATED 1318916 DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] 3 3 3 p21.31 47794449 47841545 + 47819655 47866687 + 47844399 47891686 + 6480464 18063578;18022663;17255935;15231748;14702039;12477932;10048485;21145461;20379614;16055720;16522924;19454010;16825194;17000644;21182205;21204022;21278163;22939629;23098562;17932509;18029348;20186120;21139048;21890473;21907836;20360068;21903422;21987572;22446626;22586326;19738201;21963094;23000965;23455922;22952844 22907 F6R0H4;H7BXY3;Q7L2E3 AB020697;ABBA01024669;ABBA01024670;ABBA01024671;ABBA01024672;ABBA01024673;AC026318;AC139667;AK002076;AK096791;AK291266;AMYH01013146;BC014237;BC015029;BC020126;BC028405;BC038417;BC047335;BC063510;CD368247;CH471055;NM_014966;NM_138615;NR_075079 AAH14237;AAH15029;AAH20126;AAH38417;ABM85195;BAA74913;BAA92071;BAF83955;EAW64833;EAW64834;EAW64835;EAW64836;NP_055781;NP_619520;Q7L2E3 Hs.517948 1684240;1684242;1686772;1725475;1849337;2143627;5037552;5094032 A010B06;D8S2279;G33066;RH119134;RH69910;RH80618;RH99010;SHGC-36309 DDX30;FLJ11214;KIAA0890;RETCOR ATP-dependent RNA helicase DHX30;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30;DEAH box protein 30;OTTHUMP00000164802;OTTHUMP00000210760;OTTHUMP00000210761;putative ATP-dependent RNA helicase DHX30;retina co-repressor APPROVED protein-coding ENSG00000132153 16716 13142 REVIEWED 1344132 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 6 6 6 p21.3 32219005 32238967 - 30728886 30748736 - 30620896 30640830 - 1304478;1580863;6480464;6907045 9547260 17081983;16713569;15489334;15302935;12477932;12421765;9628581;2479028;16344560;16702430;19851445;20453000;20423332;16159877;20841358;20508642;21832049;22939629;20360068;21139048;21906983;22586326;18029348;22505724;22944692 8449 A2AB15;B0V0F7;B0V0F8;B4DZ28;O60231;Q5JP46;Q5SQH4;Q5SQH5 AB001601;AB088098;AB103604;AB202095;ABBA01038052;AF119860;AK302721;AK312264;AL662798;AL732442;AL845353;AMYH01016206;BA000025;BC002789;BC008825;BC009392;BQ772493;BX119957;BX908728;CH471081;CR753328;CR759778;CR759873;CR788240;CU013522;DB072495;NM_001164239;NM_003587 AAF69614;AAH02789;AAH08825;AAH09392;ABM86832;BAA25908;BAB63323;BAC54930;BAE78615;BAF31265;BAG35195;BAG63940;EAX03312;EAX03313;EAX03314;EAX03315;EAX03316;EAX03317;NP_001157711;NP_003578;O60231 Hs.485060 1739677;2156323;2189391;2191681;5491591 D6S1533E;MARC_23735-23736:1032274434:1;MARC_3797-3798:991937626:7;MARC_4697-4698:996679616:1;STS-N98554 DBP2;DDX16;PRO2014;PRP8;PRPF2;Prp2 ATP-dependent RNA helicase #3;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16;DEAD/H box 16;DEAH-box protein 16;OTTHUMP00000029071;RNA helicase;putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 APPROVED protein-coding ENSG00000204560 2739 04555 603405 REVIEWED 1323353 DHX32 DEAH (Asp-Glu-Ala-His) box polypeptide 32 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008] 10 10 q26.2 127514899 127559874 - 127524909 127569884 - 6480464 19161603;17352256;17174952;16959245;16414036;14702039;12477932;12163057;11313963;12527204;21139048;21890473;21906983 55760 Q9H769 ABBA01034170;ABBA01034171;ABBA01034172;ABBA01034173;AF427340;AF427341;AK001556;AK001751;AK024869;AK315430;AL162051;AL360176;AMYH01003163;AY064247;AY064250;BC002473;BC037925;BC068471;CH471066;NM_018180 AAH02473;AAH37925;AAH68471;AAL26550;AAL26551;AAL55437;AAL55441;ABM83608;ABM86828;BAA91754;BAA91882;BAB15029;BAG37818;CAB82394;EAW49216;EAW49217;NP_060650;Q7L7V1 Hs.370292 1656255;1683211;1736142;1789090;2145466;2161201;2172859;2184295;2186394;5491958;7185551 A004G05;D10S1398E;DHX32;G65680;RH44594;RH98320;SGC34496;SHGC-33832;STS-AA036771;WI-11581 DDX32;DHLP1;FLJ10694;FLJ10889 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32;DEAD/H box 32;DEAD/H helicase-like protein 1;DEAD/H helicase-like protein-1;DEAH box protein 32;OTTHUMP00000020717;OTTHUMP00000020718;huDDX32;putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 APPROVED protein-coding ENSG00000089876 16717 06411 607960 REVIEWED 1317633 DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15 The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008] 4 4 4 p15.3 24978492 25035556 - 24138185 24195282 - 24529087 24586184 - 1580863;6480464;6907045 7935475;15146077;9388478;15489334;14702039;21145461;21319273;12477932;12458796;9747670;17803295;12234937;15324660;17643375;16055720;19454010;20508642;23084401;23314748;21182205;22863883;22939629;23022380;16196087;17314511;17620599;22446626;22586326;17332742;18781797;19596686;19850743;20360068;21081666;21139048;21890473;21900206;21906983;21963094;21987572;22178446;21907836;17361185;21628590;21252943;22569250;18029348;18562274;19738201;19805454;22365833;22623428;23000965;23049088;21853274;22505724;22952844 1665 O43143 AA771922;AB001636;ABBA01032683;ABBA01032684;AC115110;AF279891;AK054614;AK055898;AK056726;AK303506;AMYH01014065;BC035974;BC047577;BU158645;CH471069;NM_001358 AAF90182;AAH35974;BAA23987;BAG64538;EAW92814;EAW92815;EAW92816;EAW92817;EAW92818;EAW92819;EAW92820;EAW92821;NP_001349;O43143 Hs.696074 1740641;2108747;5015861;5022578;5022668;7185938 D10S16;D1S1423;D20S992;DHX15;DHX15_8295 DBP1;DDX15;HRH2;PRP43;PRPF43;PrPp43p ATP-dependent RNA helicase #46;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15;DEAD/H box-15;DEAH (Asp-Glu-Ala-His) box polypeptide 15;DEAH box protein 15;OTTHUMP00000217985;RNA helicase 2;putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 APPROVED protein-coding ENSG00000109606 2738 04553 603403 REVIEWED 1316314 DHX33 DEAH (Asp-Glu-Ala-His) box polypeptide 33 This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 17 17 17 p13.2 5361948 5388553 - 5286299 5312905 - 5344232 5372380 - 1580863;6480464 15635413;15489334;14702039;12477932;19423540;19615732;20406964;20438785;20811636;21930779;21906983;21963094;19322201;23401854;23537643 56919 B4DIS6;I3L0M5;I3L1L6;Q05BE5;Q9H6R0 ABBA01054814;ABBA01054815;AC004148;AK025625;AK026944;AK295074;AK295760;AK314580;AL359945;AMYH01008051;BC030017;BC042040;BC050409;BQ775963;CH471108;CR936655;NM_001199699;NM_020162 AAH30017;AAH50409;BAB15193;BAB15596;BAG58120;BAG58588;CAB95775;CAI56793;EAW90331;EAW90332;EAW90333;EAW90334;NP_001186628;NP_064547;Q9H6R0 Hs.250456 1675515;2148420;2173909;5015619;5022450 D10S275;D11S3114;RH36080;RH80463;STS-R63801 DDX33;DKFZp762F2011;FLJ21972 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33;DEAH box protein 33;OTTHUMP00000128205;putative ATP-dependent RNA helicase DHX33 APPROVED protein-coding ENSG00000005100 16718 13143 614405 REVIEWED 1605422 DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 44656435 44689848 + 52544386 52577795 + 47852538 47885961 + 6480464 16344560;12477932;10737800;10708517;8889548;8590280;16169070;15146197;22939629;21900206;21139048;21906983 9704 H7C504;Q14147 AA454494;ABBA01041029;ABBA01041030;AC008754;AC073548;AK123046;AK297692;AK304710;AMYH01009883;AW886612;BC035243;BE397677;BE646419;BE677798;BF894697;BI826597;BM543601;BQ643547;BQ708034;BU732557;BU858266;CF125648;CH471126;CN307402;D50924;DA048179;DR762320;NM_014681 AAI72389;BAA09483;BAG60050;BAG65475;EAW57473;EAW57474;EAW57475;EAW57476;EAW57477;NP_055496;Q14147 Hs.151706 1688740;1770155;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;L18426;RH25357;RH68396 DDX34;HRH1;KIAA0134 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34;DEAH box protein 34;OTTHUMP00000216383;probable ATP-dependent RNA helicase DHX34;probable ATP-dependent helicase DHX34 APPROVED protein-coding ENSG00000134815 16719 13144 REVIEWED 1322480 DHX35 DEAH (Asp-Glu-Ala-His) box polypeptide 35 DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010] 20 20 20 q11.22-q12 34301654 34379038 + 37024414 37101778 + 37590981 37668366 + 1580863;6480464 11991638;14702039;12522690;12477932;11780052;21546767;16344560;20379614;21460395;20360068;21987572;21906983;22505724 60625 F2Z2Z2;Q5THQ7;Q5THQ9;Q5THR1;Q9H5Z1 ABBA01052535;AK025541;AK026412;AK056710;AK296506;AK296793;AK303396;AK307863;AL023803;AMYH01011907;AW015983;BC033453;BC059369;BC132669;BC143941;BG258573;CH471077;DA725122;NM_001190809;NM_021931;NR_033905 AAI32670;ADR83234;BAB15166;BAB15476;BAG59138;BAG59370;BAG64452;EAW76005;EAW76006;EAW76007;NP_001177738;NP_068750;Q9H5Z1 Hs.444520 1660459;1673170;1771295;2115600;2153285;2183921;5023493;5037552 D20S808;D8S2279;GDB:314027;RH10472;SGC44336;SHGC-36528;SHGC-44336;Z94512 C20orf15;DDX35;FLJ22759;KAIA0875 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35;DEAH box protein 35;DEAH-box protein 35;OTTHUMP00000030982;OTTHUMP00000030983;OTTHUMP00000030984;probable ATP-dependent RNA helicase DHX35 APPROVED protein-coding ENSG00000101452 15861 13145 REVIEWED 1601893 DHX40P DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene 17 17 17 q23 54516896 54559852 - 55408166 55446460 - 58053385 58096336 - 12477932 653645 AC005702;BX280208;NG_005461;NR_002924 Hs.600085 TBC1D3P1 pseudo 20687 VALIDATED 1315679 DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 125032659 125074871 - 123997325 124039620 - 125431370 125473667 - 6480464 15489334;12477932;12421765;10819331;17353931;20811636;22939629;22586326 57647 F5H3Y4;F5H8E1;Q8IY37 AB040950;ABBA01060356;ABBA01060357;ABBA01060358;ABBA01060359;AC093719;AK123968;AMYH01004852;BC002575;BC004463;BC009913;BC037964;BC071824;BQ070021;BU633279;CH471054;NM_032656 AAH02575;AAH37964;AAH71824;BAA96041;EAW98467;EAW98468;EAW98469;NP_116045;Q8IY37 Hs.107382 1698724;1704688;1720887 G59271;RH102922;SHGC-78997 DDX37;FLJ41974;KIAA1517;MGC2695;MGC4322;MGC46245 DEAD/DEAH box helicase DDX37;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 37;DEAH box protein 37;OTTHUMP00000239022;probable ATP-dependent RNA helicase DHX37 APPROVED protein-coding ENSG00000150990 17210 10883 REVIEWED 1318732 DHX36 DEAH (Asp-Glu-Ala-His) box polypeptide 36 This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 q25.2 155476152 155524971 - 153993457 154042286 - 1580863;6480464 22238380;17353931;18854321;18842585;18279852;16482509;16150737;15489334;15144186;14731398;12812084;12477932;12198572;10819331;21145461;20472641;18029348;20696886;21149580;22939629;17932509;21252943;21139048;21890473;21906983;17461779;18781797;21858080;22586326;21628590;22174317 170506 E7EWK3;F5GZS0;H7C514;H7C5F5;Q9H2U1 AB040921;ABBA01058870;ABBA01058871;AC018452;AC134026;AF217190;AJ577133;AJ577134;AK303720;AK314435;AMYH01013590;BC036035;CH471052;NM_001114397;NM_020865 AAG36783;AAH36035;ABM81936;BAA96012;BAG37047;BAH14031;CAE11802;CAE11803;EAW78761;EAW78762;EAW78763;NP_001107869;NP_065916;Q9H2U1 Hs.446270 1653168;1671687;1696100;1735336;2132651;2166817 D3S2833E;D3S2897E;D3S2960E;SHGC-35942;SHGC-77472;SHGC-79130 DDX36;G4R1;KIAA1488;MLEL1;RHAU DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36;DEAH box protein 36;G4 resolvase-1;MLE-like protein 1;OTTHUMP00000214101;OTTHUMP00000214102;OTTHUMP00000214103;OTTHUMP00000214104;RNA helicase associated with AU-rich element ARE;probable ATP-dependent RNA helicase DHX36 APPROVED protein-coding ENSG00000174953 14410 09918 612767 VALIDATED 1343511 DHX9P1 DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1 13 13 13 q21 58456866 58461093 + 76456842 76461205 + 77558877 77563104 + 9325059 1661 ABBA01021659;AC001226;AMYH01005222;NG_002657 1661686;2165824;2174273 D13S1668;RH48886;SHGC-57619 DDX9P;DHX9P APPROVED pseudo 2751 INFERRED 1321196 DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008] 16 16 16 q22 56441736 56460927 + 70685116 70704312 + 72127615 72146811 + 1580863;6480464;6907045 10421373;9769096;9342318;9039502;8889549;8889548;1825134;17353931;12226669;9524131;15489334;15009096;12477932;12417987;11991638;10493829;21145461;18715871;19615732;22863883;22939629;22586326;20360068;19471022;21139048;21693764;20686565;21044950;22505724;22797925;22916037 9785 B4DVG8;H3BMS7;H3BQT9;H3BV01;J3KRT1;J3KSA8;J3KTG2;Q92620 AA126451;ABBA01016797;AC004682;AC009087;AF038391;AK291634;AK293776;AK297269;AK297791;AK301074;AK309391;AK311169;AMYH01007795;BC004235;BC008340;BG719187;BM473438;BU733805;CH471166;D86977;NM_014003 AAC27431;AAC39729;AAH04235;AAH08340;ABM82812;ABM85998;BAA13213;BAF84323;BAG57191;BAG59742;BAG60131;BAG62680;EAW59180;EAW59181;EAW59182;EAW59183;EAW59184;EAW59185;EAW59186;EAW59187;EAW59188;EAW59189;EAW59190;NP_054722;Q92620 Hs.151218 1680196;1687934;1697584;1725743;1738795;1777624;1855662;2108749;2159828;2179214 D16S2867;DHX38_8991;G62063;RH102302;RH44725;RH45493;RH80727;SHGC-32168;SHGC-60761;SHGC-61046 DDX38;KIAA0224;PRP16;PRPF16 ATP-dependent RNA helicase DHX38;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38;DEAH box protein 38;OTTHUMP00000174930;PRP16 homolog of S.cerevisiae;pre-mRNA splicing factor ATP-dependent RNA helicase PRP16;pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 APPROVED protein-coding ENSG00000140829 17211 05720 605584 REVIEWED 1348282 DIANPH diabetic nephropathy 7240710 23771 2875 1350869 DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009] 17 17 17 q23.1 54104928 54149420 + 54997668 55040484 + 57642886 57685713 + 6480464 15489334;14702039;12522690;12477932;8707840;8125298;19615732;20811636;22939629;21139048;21890473;21906983;21987572 79665 B4DR88;C9JEW8;F5H625;J3KS08;J3KSW6;J3KSX9;J3KTK0;Q8IX18 ABBA01003167;ABBA01003168;ABBA01041386;ABBA01041387;AC004167;AC091271;AF260270;AF319521;AF461690;AK025713;AK091334;AK095681;AK123683;AK225268;AK225344;AK226048;AK299151;AL832510;AMYH01008522;AMYH01008523;AMYH01008524;AMYH01008525;AMYH01008526;BC024187;CH471109;NM_001166301;NM_024612;XM_003846599 AAF70326;AAH24187;AAK32122;AAN77932;ABM81835;ABM84986;BAB15226;BAG52339;BAG53107;BAG61200;CAI46197;EAW94402;EAW94403;EAW94404;EAW94405;EAW94406;NP_001159773;NP_078888;Q8IX18;XP_003846647 Hs.29403 1693440;2149804;2152515;2160463 A008I31;G42383;RH16508;RH44652 ARG147;DDX40;FLJ22060;FLJ34015;PAD DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase);DEAH box protein 40;probable ATP-dependent RNA helicase DHX40 APPROVED protein-coding ENSG00000108406 18018 06346 607570 REVIEWED 1321188 DHX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 2 2 2 p22.1 38865894 38943735 - 38878375 38956525 - 39024871 39103021 - 6480464 17353931;17081983;15815621;15489334;14702039;12477932;9110174;8619474;21145461;22990118;21139048;22586326;23251661 90957 C9J207;F8WAZ3;H7BZ23;H7C109;Q6P158;Q8N4U2 AA431324;AB209249;ABBA01075019;ABBA01075020;ABBA01075021;ABBA01075022;AC018693;AF070590;AF283512;AI203420;AK057423;AK296739;AK307514;AMYH01010269;BC012454;BC033636;BC039270;BC053623;BC060778;BC065278;BC131534;BC153875;BQ719095;BU183594;CH471053;NM_198963 AAH33636;AAH53623;AAH60778;AAH65278;AAI31535;AAM73547;AAY24256;BAB71479;BAD92486;BAG59324;EAX00358;NP_945314;Q6P158 Hs.468226 1653379;1653381;1656483;1658210;1681937;1702860;1707682;1720799;1728397;1776573;1779932;2110365;2129596;2179258;5015861;5015961;5037552;7185938 D10S16;D15S1477;D2S2581;D8S2279;DHX57__4734;G59375;G63481;HSC2HD052;RH12126;RH65495;RH70286;RH78195;RH93622;SHGC-154181;SHGC-82014;UniSTS:99620;WI-18523 DDX57;FLJ32861 DEAH box protein 57;DEAH-box RNA/DNA helicase AAM73547;OTTHUMP00000128298;OTTHUMP00000204072;putative ATP-dependent RNA helicase DHX57 protein-coding ENSG00000163214 20086 09919 PROVISIONAL 6481150 DIAPH3-AS1 DIAPH3 antisense RNA 1 13 60586885 60618491 + 100874195 ABBA01050207;ABBA01050208;AI685327;AL390878;AMYH01005155;AW468687;BX093461;NR_046539;NR_051993;NR_051994 Hs.664101 APPROVED miscrna ENSG00000227528 39915 PREDICTED 1603964 DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58 17 17 17 q21.2 36908460 36919789 - 37506948 37518277 - 40253422 40264751 - 6480464;6907045 23184951;19403670;19278996;18411269;17020950;16189514;16116171;14702039;12477932;11735219;8889548;8125298;18029348;17190814;20331378;21285412;21525357;21832049;22301134;22185736;21903422;22797925;22837208 79132 C9JE76;C9JG98;K7EMZ5;K7EPP0;Q96C10 ABBA01006436;AC105024;AK021416;AK097669;AK225549;AK296840;AK300900;AMYH01008391;BC014949;BM723672;CH471152;NM_024119 AAH14949;ADZ15332;BAB13818;BAG53507;BAG62538;BAH12441;EAW60796;EAW60797;EAW60798;EAW60799;EAW60800;NP_077024;Q96C10 Hs.55918 1650796;1733486;1777450;2106537;2109339;2180493;5019631 A005Q17;D17S1251;G32267;GCN5L2_3982;LGP2__6393;SHGC-31964;SHGC-57271 D11LGP2;D11lgp2e;LGP2;RLR-3 OTTHUMP00000164729;RIG-I-like receptor 3;RIG-I-like receptor LGP2;RLR;RNA helicase LGP2;ortholog of mouse D11lgp2;probable ATP-dependent RNA helicase DHX58;probable ATP-dependent helicase LGP2;protein D11Lgp2 homolog protein-coding ENSG00000108771 29517 13115 608588 VALIDATED 1321795 DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is highly homologous to yeast Prp22. This protein facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38271030 38311335 + 38916860 38957206 + 41561334 41601680 + 1580863;6480464;6907045 7935475;16094384;15635413;12477932;11991638;8608946;16820410;19615732;19724143;23022380;22939629;21628590;21139048;22586326;18029348;21145461;22365833;23096351;18729074 1659 F5H658;K7EJH9;K7END7;K7EQH7;Q14562 ABBA01028409;ABBA01028410;ABBA01028411;AC068675;AC087650;AK291664;AK294046;AK303319;AMYH01008408;BC020697;BC038223;BC044586;BC047327;CH471178;D50487;NM_004941 AAH20697;AAH44586;AAH47327;BAA09078;BAF84353;BAG57398;BAH13940;EAW51676;EAW51677;EAW51678;EAW51679;EAW51680;NP_004932;Q14562 Hs.463105 1681253;1733462;1765267;2109237;2146317;2157327;2166273 D17S1200;D17S1234;DHX8__4735;L18196;NIB1920;RH94131;SHGC-148771 DDX8;HRH1;PRP22;PRPF22 ATP-dependent RNA helicase DHX8;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase);DEAH box protein 8;DEAH-box protein 8;RNA helicase HRH1 APPROVED protein-coding 2749 02672 600396 REVIEWED 6481152 DIAPH3-AS2 DIAPH3 antisense RNA 2 13 60718832 60727639 + 8401585 100874196 AA382138;AA431127;ABBA01050208;ABBA01050209;AL356502;AMYH01005155;NR_046540 Hs.662188 DIPAH3-AS2 APPROVED miscrna ENSG00000223815 39916 PREDICTED 1346222 DIAPH2 diaphanous-related formin 2 The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X X q21.33 96458012 97373277 + 95826365 96746652 + 95939662 96855597 + 1601071;1580863;6480464;7240710 9070928 9497258;18029348;17081983;16344560;15772651;15085137;14702039;12577064;12477932;11509578;11129329;10524757;8406446;18044991;20936779;20734064;16055720;23620398;21386871;20467438;21139048;23024796;22933573;22685410 1730 A6NML8;C9J6U3;K4DI95;O60879 ABBA01064463;ABBA01064464;ABBA01064465;ABBA01064466;ABBA01064467;ABBA01064468;ABBA01064469;ABBA01064470;ABBA01064471;ABBA01064472;ABBA01064473;ABBA01064474;ABBA01064475;ABBA01064476;ABBA01064477;ABBA01064478;ABBA01064479;ABBA01064480;ABBA01064481;ABBA01064482;ABBA01064483;ABBA01064484;ABBA01064485;ABBA01064486;ABBA01064487;ABBA01064488;ABBA01064489;ABBA01064490;ABBA01064491;ABBA01064492;ABBA01064493;ABBA01064494;ABBA01064495;ABBA01064496;ABBA01064497;ABBA01064498;ABBA01064499;ABBA01064500;ABBA01064501;ABBA01064502;ABBA01064503;ABBA01064504;ABBA01064505;ABBA01064506;ABBA01064507;ABBA01064508;ABBA01064509;ABBA01064510;ABBA01064511;ABBA01064512;ABBA01064513;ABBA01064514;ABBA01064515;ABBA01064516;ABBA01064517;ABBA01064518;ABBA01064519;ABBA01064520;ABBA01064521;ABBA01064522;ABBA01064523;ABBA01064524;ABBA01064525;ABBA01064526;ABBA01064527;ABBA01064528;ABBA01064529;ABBA01064530;ABBA01064531;ABBA01064532;ABBA01064533;ABBA01064534;ABBA01064535;ABBA01064536;ABBA01064537;ABBA01064538;ABBA01064539;ABBA01064540;ABBA01064541;ABBA01064542;ABBA01064543;ABBA01064544;ABBA01064545;ABBA01064546;ABBA01064547;ABBA01064548;ABBA01064549;ABBA01064550;ABBA01064551;ABBA01064552;ABBA01064553;ABBA01064554;ABBA01064555;ABBA01064556;ABBA01064557;ABBA01064558;ABBA01064559;ABBA01064560;ABBA01064561;ABBA01064562;ABBA01064563;ABBA01064564;ABBA01064565;ABBA01064566;ABBA01064567;ABBA01064568;ABBA01064569;ABBA01064570;ABBA01064571;ABBA01064572;ABBA01064573;ABBA01064574;ABBA01064575;ABBA01064576;ABBA01064577;ABBA01064578;ABBA01064579;ABBA01064580;ABBA01064581;ABBA01064582;ABBA01064583;ABBA01064584;AK002029;AK291272;AL031053;AL139399;AL139809;AL161624;AL391821;AL592157;AL606530;AL669876;AMYH01022700;AMYH01022701;AMYH01022702;AMYH01022703;AMYH01022704;AMYH01022705;AW276516;BC117414;BC143838;BX363708;CH471115;DB062196;NG_008433;NM_006729;NM_007309;U69179;Y15908;Y15909 AAI17415;AAI43839;BAF83961;BAG51003;CAA75869;CAA75870;EAX02791;EAX02792;EAX02793;NP_006720;NP_009293;O60879 Hs.226483 1644414;1667088;1685746;1701798;1702282;1702544;1726187;1726189;1726191;1726193;1726195;1726197;1726199;1726201;1726203;1726205;1726207;1726209;1726211;1726213;1726215;1726217;1726219;1726221;1726223;1726225;1726227;1726229;1726231;1726233;1726235;1747157;1747159;1747161;1747163;1747165;1747167;1747169;1747171;1747173;1747175;1747177;1747179;1750807;1768791;1787248;1856152;2130927;2136761;2144577;2145296;2219150;5021912;5105271;5106116 AL022455;DIAPH2;DXS1496;DXS458;DXS7923;G31506;G63737;G63738;G63739;G63740;G63741;G63742;G63744;G63746;G63747;G63748;G63749;G63750;G63754;G63755;G63756;G63757;G63759;G63760;G63761;G63762;G63766;G63767;G63768;G63769;G63770;G65253;G65254;G65258;G65261;G65262;G65263;G65267;G65269;G65270;G65272;G65273;G65274;G65276;HSU24186__6606;L77838;RH36105;RH36249;RH45223;RH65880;RH70584;SHGC-103641;SHGC-142364;WI-11708;ha2854 DIA;DIA2;DRF2;FLJ11167;POF;POF2;mDia3 OTTHUMP00000024270;OTTHUMP00000024271;diaphanous homolog 2;diaphanous-related formin-2;diaphorase-2;protein diaphanous homolog 2 APPROVED protein-coding ENSG00000147202 2877 02117 300108;300511 REVIEWED 1321771 DIAPH1 diaphanous-related formin 1 This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q31 140874772 140978747 - 140894588 140998622 - 1601058;1580863;6480464;6484113;6907045;7240710 9360932 19470376;19240061;19158278;19102128;18955552;18922799;18218625;17940061;17301291;17182868;16344560;15123714;15096506;14702039;12847276;12665801;12477932;12324464;11992112;11171383;9110174;8619474;7737110;1350680;12773565;14592989;10814512;11590143;12065429;15085137;15231748;15864301;16109481;18194650;19041431;19160018;19913427;20071339;20223827;20591975;16055720;22863883;20030946;22454521;22939629;21680709;21139048;17370265;21890473;21906983;19738201;21706016;21963094;22179776;22194616;20301607;16887337;22266902;22053931;22190034;22505724;22944692 1729 B4E2I7;B9ZVX0;E5RJ79;E7EMV0;E7ERW8;E7ET75;E9PEZ3;E9PHQ0;H7C2W8;H9KV28;O60610;Q6URC4 AB209482;ABBA01026407;ABBA01026408;ABBA01026409;ABBA01026410;AC008781;AF051782;AK023345;AK057994;AK094264;AK301195;AK304291;AK307822;AL050086;AMYH01015661;AY007129;AY360322;AY363395;BC007411;BC117257;BC143413;BC143414;BQ945734;BT007318;CH471062;DA593734;DQ067452;DQ067453;NG_011594;NM_001079812;NM_005219 AAC05373;AAH07411;AAI17258;AAI43414;AAP35982;AAQ63049;AAQ64023;AAZ23039;AAZ23040;BAB14533;BAD92719;BAG62775;BAG65149;EAW61919;EAW61920;NP_001073280;NP_005210;O60610 Hs.529451 1687612;1708234;1791558;1791566;1856154;2143321;2152153;2161597;2175387;2218486;5014709 D5S1539;D5S2318;DIAPH1__4737;PMC115182P3;PMC115182P7;RH15897;RH66450;RH78579;RH92360;SHGC-79378;WI-17153 DFNA1;DIA1;DRF1;FLJ25265;LFHL1;hDIA1 OTTHUMP00000195047;OTTHUMP00000195048;OTTHUMP00000195049;OTTHUMP00000224777;diaphanous homolog 1;diaphanous-related formin 1;diaphanous-related formin-1;protein diaphanous homolog 1 APPROVED protein-coding ENSG00000131504 2876 03670 124900;602121 REVIEWED 2292050 DICER1-AS1 DICER1 antisense RNA 1 14 14 14 q32.13 75680142 75702386 + 94713573 94716023 + 95624025 95646270 + 12477932;19322201 400242 Q6ZSS4 ABBA01030403;ABBA01030404;AK127179;AL356017;AMYH01005973;BC040596;BC132912;BI754942;BX642509;BX648898;NR_015415 BAC86872 Hs.497573;Hs.712518 1680657;5015607;5020423;5022637;5037552;5115198 D11S1053;D11S2442;D11S2766;D11S3014;D8S2279;RH99182 DICER1-AS;FLJ45244 APPROVED miscrna ENSG00000235706 43017 13502 VALIDATED 1344911 DIH1 diaphragmatic hernia 1 7240710 1732 2881 1318384 DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9 This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010] 1 1 q25 181075074 181123507 + 182808439 182857117 + 1580863;6480464 9111062;17498979;12226669;8690889;18809582;19309309;19197335;18782589;18600529;18519039;18053790;17353931;17251188;17081983;16710414;16527808;16375861;16344560;15995249;15613478;15489334;15355351;15302935;15084609;14769796;14704337;14702039;12711669;12665568;12592385;12477932;12429849;12243751;12171929;12163469;11850402;11416126;11402034;11254741;11149922;10951562;10925702;10924507;10207077;9892698;9811865;9662397;9480750;9396813;9323138;8344961;7685763;1537828;10748171;11823437;16196087;21561811;20437153;20802156;12946349;15034300;15121898;15723802;16169070;17289661;17531811;17643375;19029303;19229320;16914450;18029348;16740692;17611602;21145461;21319273;20510246;20385589;20669935;20696886;22939629;21123178;11687588;15312759;16055720;18385154;21182205;22863883;12777385;15161933;15848144;17303075;20360068;21081666;17765891;19135240;18781797;21987572;22108332;22118674;22178446;18457437;21903422;21957149;21139048;21549307;21890473;21906983;21963094;22162396;17361185;21628590;21679440;21907836;22145905;17332742;22171255;22190748;21252943;21900255;22446626;19893574;23184937;16230076;19738201;19805454;20085233;21149631;22053931;22365833;22751105;23000965;23151878;23361462;19149558;19454010;20007598;21358275;21853274;22174317;22505724;22797925;22952844;9162007 1660 B3KU66;Q08211 AA836637;AB451248;AB451372;ABBA01027761;AF086352;AK096582;AK130564;AK226102;AK308165;AL355999;AL662837;AMYH01001549;BC008773;BC014246;BC025245;BC032742;BC058896;BC071950;BC107881;BC137136;BC144494;CH471067;DB002450;DB223823;DB285127;L13848;NG_029930;NM_001357;NR_033302;U03643;Y10658 AAA03571;AAB48855;AAH08773;AAH14246;AAH25245;AAH58896;AAI07882;AAI37137;BAG53328;BAG70062;BAG70186;CAA71668;EAW91137;EAW91138;NP_001348;Q08211 Hs.191518 1649323;1661686;1663640;1691880;1692104;2127330;2162719;2165824;2174273;5091846;5093454;5107743 A009P09;AL033692;AL033994;D13S1668;D1S1703;D1S2238;D1S3440;G32727;RH17975;RH48886;RH69013;SHGC-57619 DDX9;FLJ17406;LKP;NDH2;NDHII;RHA ATP-dependent RNA helicase A;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9;DEAH box protein 9;OTTHUMP00000033287;RNA helicase A;leukophysin;nuclear DNA helicase II APPROVED protein-coding ENSG00000135829 2750 04386 603115 REVIEWED 1319699 DICER1 dicer 1, ribonuclease type III This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 14 14 q32.13 94622319 94693512 - 95552565 95623759 - 1580863;4144851;6480464;7240710 20661255 17181864;12411504;15973356;17452327;19422693;19219043;19155329;19138993;19127773;19118902;19092150;19082437;19047128;19022417;19017633;18978195;18927112;18700235;18644891;18637735;18508075;18413723;18325616;18289125;18239938;18178619;18167183;18029348;18023283;17663774;17482383;17379831;17360756;17332367;17317629;17303335;17071602;16582496;16380083;16142218;16095561;15811921;15592455;15342556;15247924;15242644;14749716;14702039;14576312;12906857;12527779;12526743;12477932;12411505;12168954;12110183;10786632;10727850;10231032;10051563;9110174;8619474;22252463;22541070;22133720;22180160;22745131;21145461;22718634;22381205;20615407;20721975;21266384;16424907;19393748;19520829;19556464;19615732;19646895;19672267;19678941;19782670;19806572;19836333;19851984;19914350;20201926;20210522;20211803;20237275;20463238;20550935;21425145;22394132;22407237;22479364;22615744;20932845;20974746;20530258;20805302;20869963;20232482;20339536;20730047;22371183;22737231;22972926;22984192;20584909;20732906;20819778;20962848;21044367;21048142;21205968;21297615;22163034;21306637;21036787;21297638;21698147;22647351;22727743;23064648;23141545;22808238;22999255;22867905;21346072;21559780;21160068;21753850;23620094;23752268;23047949;23071822;21501861;23402259;23455922;23519840;23143396;22821364;22766726;20405249;22187960;21769619;21858095;21937200;21953080;22055188;21345667;21761362;21029372;21903422;22546613;17531811;21898071;22446887;22586326;16357216;22678362;22179432;21827717;21878538;21889945;22922797;23307239;21139048;21882293;21890473;22320315;22350415;22426548;23251602;22689055;23550157;23266047;15174051;19716330;21988832;22310293;23438482;23192594;23311378;23068969 23405 B3KRG4;E9PL29;H0YJZ6;Q5D0K5;Q9UPY3 AB023145;AB028449;ABBA01030404;ABBA01030405;ABBA01030406;AF007142;AJ132261;AK001041;AK001827;AK002007;AK091094;AK091513;AL122105;AL356017;AL390254;AL832389;AMYH01005972;AMYH01005973;AW297296;AY845867;AY929254;AY929255;AY929256;BC046934;BC068591;BC150287;BI913232;BP199059;BQ937506;CH471061;HC879392;HD033101;HM595745;NG_016311;NM_001195573;NM_001271282;NM_030621;NM_177438 AAI50288;AAW31883;AAX18334;AAX18335;AAX18336;ADK25182;BAA76772;BAA78691;BAG51002;BAG52376;CAB38857;CAB59269;CBM42912;CBV35645;EAW81595;EAW81596;NP_001182502;NP_001258211;NP_085124;NP_803187;Q9UPY3 Hs.87889 1338727;1673494;1689504;1690548;1690550;1699436;1739633;1770914;1778033;1797476;2131225;2151111;2186906;2187269 A003B15;Cda1bd03;D14S1030;D14S892E;DICER1_2299;G35622;RH103309;RH47658;RH48955;RH68069;RH70750;RH78640;RH98980;SHGC-59954 DCR1;Dicer;HERNA;KIAA0928;MNG1 Dicer1, Dcr-1 homolog;K12H4.8-LIKE;OTTHUMP00000231970;OTTHUMP00000231971;OTTHUMP00000231972;dicer 1, double-stranded RNA-specific endoribonuclease;endoribonuclease Dicer;helicase MOI;helicase with RNAse motif;helicase-moi APPROVED protein-coding ENSG00000100697 17098 05875 138800;601200;606241 REVIEWED 1322043 DIABLO diablo, IAP-binding mitochondrial protein This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 12 12 q24.31 121258162 121276552 - 122692209 122712068 - 6480464 16868249;16484020;16344560;16341674;16282325;16091752;15843890;15541727;15537572;15489334;15300255;15242764;15200957;15178455;14960576;14702039;14570909;14560006;14523016;14512414;12975347;12855565;12766489;12749848;12665525;12660240;12642862;12571250;12559088;12525502;12477932;12388702;12364342;12218061;12121969;12118245;11964312;11801603;11801595;11726499;11604410;11323712;11285287;11242052;11181995;11140638;11140637;10972280;8889549;8889548;15628841;10929711;10929712;10950947;11257231;19148507;18979398;18856066;18663754;18660514;18401527;18307314;18091317;18060880;18029193;17997990;17996648;17967504;17922292;17724022;17666167;17653087;17630921;17603079;17546047;17521628;17440818;17320350;17291493;17277885;17237824;17223373;17045968;16949641;21478115;22590594;15507451;20614026;20957035;8125298;17140287;15280366;12511567;12865429;15650747;21204765;19913121;20628086;16729033;20562859;20596678;21354220;20572591;16732934;17959540;18029348;19153467;19500507;19615732;19875445;20056675;20063052;20395960;16083549;20061022;20537984;18822208;15749826;20877624;21055155;20980180;22863883;19635196;21722859;21869827;21744997;21242120;16196087;15781261;18309324;19506082;21900206;21903422;20972266;21139048;21890473;21906983;22028622;23156805;23225169;23240027;23252748;23393362;23403634;23479728;23538445;23539542;23618690;20639865;21676925;21987572;22333553;19322201;22218530;22482401;22320973;11257230;11602612;11606597;12620238;15485395;17179183;19667203;23207240;22161156;21988832;23246001;22848756;19234489;22505724;22534537 56616 F5GX50;F5GXT8;F5GYH3;F5H0Q4;F5H796;F8W6K8;H7BZK7;H7BZQ7;Q9NR28 ABBA01060475;ABBA01060476;ABBA01060477;ABBA01060478;ABBA01060479;AC048338;AF262240;AF298770;AK001399;AK024768;AK057778;AK222664;AK315629;AMYH01004825;AY313210;BC004417;BC011909;BC046209;BC095468;BF313712;BF724951;BM746689;CD742753;CF128595;CH471054;DA877400;DA910387;DA915183;DB254800;JX679472;N66735;NG_029459;NM_001278302;NM_001278303;NM_001278304;NM_001278342;NM_019887;NM_138929;NM_138930;NR_024600;NR_024601 AAF87716;AAG22077;AAH04417;AAH11909;AAH95468;AAQ86939;ABM83987;ABM87312;AFX61342;BAB14994;BAB71568;BAD96384;BAG37997;BAG50903;EAW98311;EAW98312;EAW98313;EAW98314;EAW98315;EAW98316;NP_001265231;NP_001265232;NP_001265233;NP_001265271;NP_063940;NP_620307;NP_620308;Q9NR28 Hs.169611 1666483;1676484;1686096;2186117;5016781;5022578 D12S1399;D12S1578;D1S1423;NIB962;RH92426;SHGC-67307 DFNA64;DIABLO-S;FLJ10537;FLJ25049;SMAC;SMAC3 0610041G12Rik;OTTHUMP00000211306;OTTHUMP00000211307;OTTHUMP00000211309;OTTHUMP00000239748;OTTHUMP00000239749;diablo homolog, mitochondrial;diablo, mitochondrial;direct IAP-binding protein with low pI;mitochondrial Smac protein;second mitochondria-derived activator of caspase APPROVED protein-coding ENSG00000184047 21528 05560 605219;614152 REVIEWED 6769206 DIO2-AS1 DIO2 antisense RNA 1 14 80677762 80921810 + 100628307 ABBA01030614;ABBA01030615;ABBA01030616;AC007372;AC010849;AL049837;AMYH01005898;AMYH01005899;BC039670;NR_038355 Hs.623865 APPROVED miscrna ENSG00000258766 44153 VALIDATED 1350370 DIAPH3 diaphanous-related formin 3 This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 13 13 q21.2 59137718 59636120 - 60239717 60738119 - 1580863;6480464;7240710 11329013;563699;11509578;12477932;18044991;15489334;15231748;15057823;14767582;14702039;17198702;17398099;17855386;18516090;18755006;19457867;21119010;15520414;20624953;21397845;15976449;15085137;17370265;20467438;21963094;23580645;19471022;21139048;22184005;19343720;23383273;22593025;22797925 81624 B4DPV3;C9JDG0;Q3ZK23 AB244756;AB244757;AB244758;ABBA01036994;ABBA01050206;ABBA01050207;ABBA01050208;ABBA01050209;AK092024;AK298509;AK307652;AK316474;AL137718;AL354829;AL356502;AL359266;AL390878;AL596282;AMYH01005153;AMYH01005154;AMYH01005155;AY750055;AY818645;BC034952;BC048963;BC068504;BF979672;BG203073;BX649186;CA310418;CH471124;NG_032693;NM_001042517;NM_001258366;NM_001258367;NM_001258368;NM_001258369;NM_001258370;NM_030932 AAH34952;AAH48963;AAH68504;AAW73254;AAW78862;BAC03793;BAE96350;BAE96351;BAE96352;BAG60715;BAH14845;CAB70890;CAE46204;EAW52069;EAW52070;EAW52071;EAW52072;EAW52073;EAW52074;NP_001035982;NP_001245295;NP_001245296;NP_001245297;NP_001245298;NP_001245299;NP_112194;Q9NSV4 Hs.283127 1335643;1671664;1675405;1678873;1690208;1690792;1699800;1720751;1732727;1749037;1749379;1749599;1751597;1782974;1789164;2122688 AFM263yd1;D13S176;D13S632;G59349;G65581;RH103507;RH44715;RH92288;RH92956;RH93284;SGC33707;SHGC-105559;SHGC-110672;SHGC-111130;SHGC-111284;SHGC-79449 AN;AUNA1;DKFZp434C0931;DKFZp686A13178;DRF3;Dia2;FLJ34705;NSDAN;diap3;mDia2 OTTHUMP00000018480;OTTHUMP00000180577;OTTHUMP00000180578;OTTHUMP00000180579;OTTHUMP00000180580;auditory neuropathy, autosomal dominant 1;diaphanous homolog 3;diaphanous-related formin 3;diaphanous-related formin-3;protein diaphanous homolog 3 APPROVED protein-coding ENSG00000139734 15480 10884 609129;614567 REVIEWED 1349148 DIO3OS DIO3 opposite strand/antisense RNA (head to head) The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM, Mar 2008] 14 14 14 q32.31 82073649 82077102 - 101088313 101091766 - 102018560 102022013 - 6480464 12477932;14962667;23192594 64150 ABBA01048510;AF305836;AF469199;AF469200;AF469201;AF469202;AF469203;AF469204;AF469205;AF469206;AF469207;AF469208;AL049836;AMYH01006020;BC037351;BC065701;BC111049;NR_002770 Hs.525597;Hs.660271;Hs.745484 1658581;1689372;1689374 RH79574;RH94116;SHGC-58276 C14orf134;DIO3-AS1;DIO3-OS;NCRNA00041 APPROVED miscrna 20348 608523 PROVISIONAL 735269 DIO1 deiodinase, iodothyronine, type I The protein encoded by this gene is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It also degrades both hormones by inner ring deiodination (IRD). Alternative splicing results in multiple transcript variants encoding different isoforms. Some, but not all, isoforms contain a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Additional transcript variants have been described but are not supported by experimental evidence. [provided by RefSeq, Jul 2008] 1 1 p33-p32 54132449 54149347 + 54359861 54376759 + 1580863;6480464;7240710 8033262;1400883;19190113;19064291;18793344;18676680;18492748;18426912;18349068;17274741;17105838;16710414;16131326;15785240;15489334;15483075;12847093;12586771;12477932;12153750;11383912;9784399;9249039;9192862;8964838;8473826;8427198;8187873;7744884;7651427;22339181;21912701;19170196;19534619;19625176;19692168;19730683;20049650;15028279;21415143;21563302;22067325;23502783;22544951;22207295;23462647;23408906 1733 C6ZRC2;D3DQ42;E9PI35;E9PM07;E9PNR3;Q6Q4C6 ABBA01074729;AK290780;AL031427;AMYH01000631;AW294928;AY560374;AY560375;AY560376;AY560377;AY560378;AY560379;AY560380;AY560381;AY560382;AY560383;BC017955;BC107170;BC107171;CD014030;CH471059;FJ002243;FJ002244;NG_023306;NM_000792;NM_001039715;NM_001039716;NM_213593;S79349 AAB35380;AAH17955;AAI07171;AAI07172;AAT02480;AAT02481;AAT02482;AAT02483;AAT02484;AAT02485;AAT02486;AAT02487;AAT02488;AAT02489;ACM41656;ACM41657;BAF83469;EAX06720;EAX06721;EAX06722;EAX06723;EAX06724;EAX06725;EAX06726;NP_000783;NP_001034804;NP_001034805;NP_998758;P49895 Hs.251415 1678773;2110367;2177003 D1S3255;DIO1_8298;RH80009 5DI;MGC130050;MGC130051;TXDI1 DIOI;OTTHUMP00000010105;OTTHUMP00000010106;OTTHUMP00000232057;OTTHUMP00000232063;OTTHUMP00000232065;OTTHUMP00000232066;thyroxine deiodinase type I (selenoprotein);type 1 DI;type I iodothyronine deiodinase;type-I 5'-deiodinase;type-I 5'deiodinase APPROVED protein-coding ENSG00000211452 2883 01002 147892 REVIEWED 735779 DIO2 deiodinase, iodothyronine, type II The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 14 14 q24.2-q24.3 79733622 79748278 - 80663868 80697397 - 68235;1580863;1626437;1626439;2313698;2313696;6480464 8755651;17224473;17077128;11872697;18198294 9837913;19427350;19293265;19190113;19178511;19018782;18514391;18492748;18349068;18334578;18285610;18073314;17991726;17504898;17452445;17408423;17389255;17381351;17244789;17105838;16928685;16889485;16728541;16728495;16356084;16144953;16140305;16131328;16127464;15797963;15785240;15727947;15291742;15286152;15240580;12933904;12865408;12847093;19322201;22207295;22492780;12775767;12699588;12586771;12477932;12198238;12153750;12089359;11897672;11716958;11716036;11165050;11089566;10614643;10343107;9110174;8770868;8619474;15965468;20566590;20930717;21054208;1400883;19651899;19684474;20176747;20178852;20200941;20373986;20379614;21323585;21292729;23296253;22142372;21715540;22259052;22353746;21685153;21987572;22048657;22053000;22307573;22689263 1734 A8K845;G3V2A7;G3V3A8;H0YJ42;H0YJQ8;Q92813;Q9HCP7 AB039888;AB041843;AB041844;ABBA01030616;AC007372;AF007144;AF093774;AF123661;AF188709;AI248279;AI697311;AI701403;AI888658;AK292210;AK311603;AMYH01005898;AMYH01005899;BC063118;BC074882;BC136514;BF224328;CD691767;CD701270;CH471061;NM_000793;NM_001007023;NM_001242502;NM_001242503;NM_013989;U53506 AAC50663;AAC95470;AAD45494;AAF37612;AAH63118;AAH74882;AAI36515;BAB16838;BAB16839;BAB21594;BAF84899;EAW81320;EAW81321;EAW81322;EAW81323;EAW81324;EAW81325;NP_000784;NP_001007024;NP_001229431;NP_001229432;NP_054644;Q92813 Hs.202354;Hs.708526;Hs.732170 1679451;1708032;1736460;1775665;2109239;2114313;2116085;2123756 A006X29;D14S715E;DIO2_8299;RH11267;RH68849;RH91531;SHGC-81380;WI-22325 5DII;D2;DIOII;SelY;TXDI2 DIOII;OTTHUMP00000246034;OTTHUMP00000246219;OTTHUMP00000246220;OTTHUMP00000246221;thyroxine deiodinase, type II;type 2 DI;type 2 iodothyronine deiodinase;type II iodothyronine deiodinase;type-II 5'-deiodinase;type-II 5'deiodinase APPROVED protein-coding ENSG00000211448 2884 09027 601413 REVIEWED 1604367 DIEXF digestive organ expansion factor homolog (zebrafish) 1 1 1 q32.2 183232203 183261798 + 208067956 208097531 + 210001312 210030910 + 6480464 16710414;16322560;15489334;14702039;12477932;16189514;16344560;21832049;22108332;19471022;21139048;21906983;22586326 27042 H7C2R4;Q68CQ4 ABBA01048213;AK022766;AK096118;AK123674;AK289613;AK295799;AK314061;AL022398;AL022728;AMYH01001696;BC022964;BX345520;BX648514;CH471100;CR749825;DA256510;NM_014388 AAH22964;BAB14235;BAF82302;BAG53934;BAH12189;CAH18684;CAH56170;EAW93436;EAW93437;NP_055203;Q68CQ4 Hs.194754 1687137;1700568;1725497;1858474;2182927;5111745 AL009858;AL033672;RH103906;RH119145;RH69476;SHGC-76285 C1orf107;DEF;DJ434O14.5;DKFZp686E19106;FLJ12704;FLJ41680;MGC29875;UTP25 OTTHUMP00000034820;OTTHUMP00000107267;digestive organ expansion factor homolog;digestive-organ expansion factor homolog APPROVED protein-coding ENSG00000117597 28440 14535 VALIDATED 1603655 DIMT1 DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 5 5 5 q12.1 58680274 58695692 - 61720108 61735485 - 61684351 61699728 - 6480464 16341674;15489334;12477932;21145461;12429849;11124703;9584194;19454010;19615732;22863883;21832049;17314511;21139048;21890473;21906983;21907836;21628590 27292 D6RCL3;Q9UNQ2 ABBA01048365;ABBA01048366;AC016637;AF091078;AF102147;AJ009761;AK292723;AK299480;AMYH01015117;BC002841;BC010874;BC017885;BM749030;CH471137;NM_014473 AAC72947;AAC97955;AAH02841;AAH10874;ABM82408;ABM85595;ABM85767;BAF85412;BAG61444;CAA08815;EAW51384;EAW51385;EAW51386;NP_055288;Q9UNQ2 Hs.731665 1684180;1717625;2113788;2173038 AB060843;RH122117;RH93835;SGC32025 DIM1;DIMT1L;HSA9761;HUSSY5 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase;18S rRNA dimethylase;OTTHUMP00000161884;OTTHUMP00000221860;S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase;dimethyladenosine transferase;probable 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase;probable 18S rRNA dimethylase;probable S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase;probable dimethyladenosine transferase APPROVED protein-coding 30217 13676 612499 VALIDATED 68623 DIO3 deiodinase, iodothyronine, type III The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 14 14 q32 101097441 101099542 + 102027688 102029789 + 1580863;2303417;6480464 18259611 12746313;7593630;19190113;18492748;18356288;18176563;16131330;16131329;16037131;15489334;15240580;14962667;12943987;12847093;12586771;12477932;12419801;9787088;1519445;20566590;20724312;19548001;19819956;19966805;21737452;21398344;21832049;17709427;21828183;22825660;22823995;23235188 1735 P55073;Q86TU3 ABBA01048509;AL049836;AMYH01006021;BC017717;BX161470;CH471061;NM_001362;S79854 AAB35616;AAH17717;CAD61926;EAW81747;NP_001353;P55073 Hs.49322 1700500;2131597;5491922 MARC_54596-54595:1155067325:1;RH103871;STS-S79854 5DIII;D3;DIOIII;TXDI3 OTTHUMP00000218716;iodothyronine deiodinase, placental type;thyroxine deiodinase type III (selenoprotein);type 3 DI;type 3 iodothyronine selenodeiodinase;type III iodothyronine deiodinase;type-III 5' deiodinase;type-III 5'-deiodinase APPROVED protein-coding ENSG00000197406 2885 11867 601038 REVIEWED 5688841 DIP2A-IT1 DIP2A intronic transcript 1 (non-protein coding) 21 q22.3 47882384 47889219 + 8889548 100862692 ABBA01021768;ABBA01021769;AMYH01012340;AP000337;BM929894;NR_046400 Hs.737163 miscrna 41430 VALIDATED 1322490 DIDO1 death inducer-obliterator 1 Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 58185696 58245931 - 60979535 61039719 - 61509090 61569304 - 1580863;6480464 18298900;17299043;17081983;16964243;16127461;15489334;15302935;15203218;15146197;14702039;12624717;12477932;12070015;11780052;10393935;9205841;8889548;16189514;16344560;19851296;20198315;20379614;20453000;20800603;21832049;22939629;19236754;22711543;22586326;19471022;21139048;21890473;20467438;21988832;22469980 11083 Q9NTU8 AB002331;ABBA01021375;ABBA01021376;ABBA01021377;AF085876;AI291497;AK002127;AL035669;AL117379;AL133063;AMYH01012066;AW206895;AY481571;AY481572;BC000770;BC004237;BC012757;BC014489;BC014615;BC137177;BG677268;BG755041;BG771506;BI830580;BQ045451;BX404270;CD637702;CH471077;CK300739;CN348577;CN348578;CN370110;CN370112;DA294135;DA506324;DB460917;NG_029496;NM_001193369;NM_001193370;NM_022105;NM_033081;NM_080796;NM_080797 AAH00770;AAH04237;AAH14489;AAI37178;AAS49898;AAS49899;ABM83946;ABM87264;BAA20791;BAA92094;CAB61387;EAW75321;EAW75322;EAW75323;EAW75324;EAW75325;EAW75326;NP_001180298;NP_001180299;NP_071388;NP_149072;NP_542986;NP_542987;Q9BTC0 Hs.517172 1662162;1663302;1677138;1678167;1681127;1682702;1687023;1687425;1687431;1687714;1693688;2114752;5093852 G32962;RH18344;RH25609;RH39018;RH46004;RH67654;RH77850;RH80495;RH92326;SHGC-2352;SHGC-24151;SHGC-57951;SHGC-58609 BYE1;C20orf158;DATF-1;DATF1;DIDO2;DIDO3;DIO-1;DIO1;DKFZp434P1115;FLJ11265;KIAA0333;MGC16140;dJ885L7.8 DATF-1;OTTHUMP00000031517;OTTHUMP00000031518;OTTHUMP00000031519;OTTHUMP00000031520;OTTHUMP00000031521;OTTHUMP00000031522;death associated transcription factor 1;death-associated transcription factor 1;death-inducer obliterator 1;hDido1 APPROVED protein-coding ENSG00000101191 2680 10363;12752 604140 REVIEWED 1346607 DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008] 10 10 10 p15.3 274747 488085 - 311432 725606 - 320130 735608 - 737633;1580863;6480464 12477932 17236128;15489334;14702039;12168954;12137943;10231032;22610502;19913121;20628086;19851296;20198315;20379614;20211142;21890473;21906983;22005930;23703922 22982 B4DPI5;E7EPU2;F6XJ20;H0Y5A8;H0Y7Q3;Q86XV3;Q9Y2E4 AB023151;ABBA01035270;ABBA01035271;ABBA01035272;ABBA01035273;ABBA01035274;ABBA01035275;AF332380;AI913413;AK126063;AK298353;AK309715;AK310018;AK310613;AK311679;AL157709;AL358216;AL359957;AL603831;AL669841;AMYH01001961;AMYH01001962;AMYH01001963;AMYH01001964;AMYH01001965;AMYH01001966;BC035216;BC048327;BC063313;BX537672;CH471072;N27959;NM_014974 AAH48327;AAH63313;BAA76778;BAG54284;BAG60597;EAW86536;NP_055789;Q9Y2E4 Hs.432397 1337064;1654438;1681211;1701066;1712777;1730325;1753415;1763227;1779490;1781898;1782226;1782228;1789060;1849711;1856450;1857378;2122798;2152396;7184690 D10S243E;D10S2488;G31010;G31457;G65666;RH104160;RH120101;RH44482;RH94311;SHGC-106888;SHGC-107228;SHGC-146958;SHGC-153467;SHGC-52705;SHGC-86301;SHGC-86305;STS-N35887;WI-19371 FLJ34444;FLJ44075;KIAA0934;RP11-486H9.2 DIP2 homolog C;OTTHUMP00000018940;disco-interacting protein 2 homolog C APPROVED protein-coding ENSG00000151240 29150 17200 611380 REVIEWED 1605978 DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011] 12 12 12 q13.12 49696900 49942829 + 49185035 49428717 + 50898768 51142450 + 6480464;7240710 17236128;15302935;15028280;14702039;12477932;10819331;20379614;20562859;20972440;21139048;21693764;21890473;21906983;22145905;19322201;22505724 57609 H0YIU5;Q7Z3H2;Q96IB4;Q9P265 AB040896;ABBA01031577;ABBA01031578;ABBA01031579;ABBA01031580;ABBA01031581;ABBA01031582;ABBA01031583;ABBA01031584;AC078818;AC090021;AC090058;AC125605;AK091597;AK094890;AK097369;AK126758;AMYH01004454;AMYH01004455;AMYH01004456;AMYH01004457;AMYH01004458;BC007671;BC030156;BC075027;BU101773;BU102128;BU429622;BX537905;CH471111;NG_021196;NM_173602 AAH07671;AAH30156;AAH75027;BAA95987;BAC03705;BAC05025;CAD97891;EAW58149;EAW58150;NP_775873;Q9P265 Hs.505516 1334861;1661337;1675971;1676640;1693614;1705340;1726137;1736286;1746261;1758051;1758393;1765361;1788958;2119146;2159080 D12S1237E;D12S1635;D12S2016;G62410;G64372;G65554;RH47661;RH94010;RH94013;SHGC-147220;SHGC-148226;SHGC-148853;SHGC-58527;SHGC-83522;STS-H13700 KIAA1463;MGC104005 OTTHUMP00000241215;disco-interacting protein 2 homolog B APPROVED protein-coding ENSG00000066084 29284 08751;11148 136630;611379 REVIEWED 1319135 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 21 21 21 q22.3 32992036 33103092 + 46703318 46813028 + 47878862 47989926 + 6480464 17236128;16344560;15489334;14702039;14637006;12477932;12137943;12036298;11812785;8724849;11675124;20860622;20054002;18218781;21139048;21906983 23181 E9PER1;Q14689;Q96NX2 AB273729;ABBA01021768;ABBA01021769;ABBA01021770;ABBA01021771;AF432263;AF490768;AK054807;AK056738;AK091790;AK098236;AK124731;AK303351;AL137672;AMYH01012340;AP000337;AP000338;BC033718;BC038443;BC039427;BC046176;BE876989;BF509590;BQ017399;BX410051;CH471079;CK821329;DA326960;NG_015996;NM_001146114;NM_001146115;NM_001146116;NM_015151;NM_206889;NM_206890;NM_206891 AAH33718;AAH38443;AAL28109;AAM18046;ADZ15713;BAB71268;BAC05266;BAF69070;BAG64412;CAB70868;EAX09271;EAX09272;EAX09273;EAX09274;EAX09275;NP_001139586;NP_001139587;NP_001139588;NP_055966;NP_996772;NP_996773;NP_996774;Q14689 Hs.189585 1335114;1732039;1759929;1759931;1853727;5014051;5022200;5024761;5037552 D21S1271;D21S2058;D8S2278;D8S2279;L18426;RH36905;SHGC-170321;SHGC-170322;SHGC-37479 C21orf106;DIP2 DIP2 homolog A;OTTHUMP00000115890;OTTHUMP00000225564;OTTHUMP00000225565;OTTHUMP00000225566;OTTHUMP00000225567;chromosome 21 open reading frame 106;disco-interacting protein 2 homolog A;disco-interacting protein 2A APPROVED protein-coding ENSG00000160305 17217 07611 607711 REVIEWED 1321350 DIRAS1 DIRAS family, GTP-binding RAS-like 1 DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] 19 19 19 p13.3 2650904 2657729 - 2665565 2672369 - 2714565 2721390 - 1580863;6480464 16344560;15489334;15057824;12477932;12194967;12107278;21890473;23436800;21832049;19953087;21139048 148252 K7EN06;O95057 AB076888;ABBA01002764;ABBA01002765;AC006538;AK124445;AK124672;AL833958;AMYH01009290;AMYH01009291;AY056037;AY059641;AY180973;BC017484;BC030660;DA754806;NM_145173 AAD13119;AAH30660;AAL17968;AAL23715;AAO22153;ABM82576;ABM85765;ABM85766;BAC01115;NP_660156;O95057 Hs.172753 1791774;2127130 PMC125049P1;RH78245 Di-Ras1;FLJ42681;GBTS1;RIG GTP-binding protein Di-Ras1;distinct subgroup of the Ras family member 1;ras-related inhibitor of cell growth;small GTP-binding tumor suppressor 1 APPROVED protein-coding ENSG00000176490 19127 09710 607862 VALIDATED 1350473 DIRC3 disrupted in renal carcinoma 3 2 2 2 q35 211916548 212389202 - 218276868 218329517 - 218148746 218621316 - 6480464 14702039;12939738;21998595;22267200;20881960;23319000 729582 C9JPN6 ABBA01062832;ABBA01062833;AC009492;AC010886;AC011235;AK024261;AK090954;AMYH01011493;AMYH01011494;NR_026597 Hs.572788 1299945;1334976;1338282;1342373;1678593;1691304;1700196;1707312;1711028;1756315;1760591;1947174;2138244 D2S1286;D2S1371;D2S2210;D2S295;D2S434;REN44432;RH103713;RH80987;RH93263;SHGC-143297;SHGC-144143;SHGC-79260;SHGC-84896 FLJ14199 miscrna 17805 608262 PREDICTED 1343615 DIRAS3 DIRAS family, GTP-binding RAS-like 3 This gene is a member of the ras superfamily, and is expressed in normal ovarian and breast epithelial cells, but not in ovarian and breast cancers. It is an imprinted gene, with monoallelic expression of the paternal allele, which is associated with growth suppression. Thus, this gene appears to be a putative tumor suppressor gene whose function is abrogated in ovarian and breast cancers. [provided by RefSeq, Oct 2010] 1 1 p31 68284233 68289048 - 68511645 68516460 - 6480464 9874798;19482475;19033662;18612997;18302158;18286529;16710414;16158053;16061651;15489334;14702039;14506155;12874023;12771940;12485503;12477932;11418188;21244707;21093415;19435463;19639215;19759414;22497484;21933150;21643014;22117988;22427032;22605333;23157514;23678541;21602127 9077 O95661 ABBA01074511;AF202543;AK021882;AK096393;AL157407;AMYH01000692;BC005362;CH471059;CR541870;CR541892;NG_011753;NM_004675;U96750 AAD03164;AAG35625;AAH05362;ABM83985;ABM87308;BAG51055;CAG46668;CAG46690;EAX06483;NP_004666;O95661 Hs.194695 1693170;1777411;2137234 AL034314;D1S3040;SHGC-57898 ARHI;NOEY2 GTP-binding protein Di-Ras3;OTTHUMP00000011138;distinct subgroup of the Ras family member 3;ras homolog gene family, member I;rho-related GTP-binding protein RhoI APPROVED protein-coding ENSG00000162595 687 05547 605193 REVIEWED 1313693 DIRAS2 DIRAS family, GTP-binding RAS-like 2 DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004] 9 9 9 q22.2 63806753 63839749 - 92411934 92444928 - 93372114 93405108 - 1580863;6480464 18464913;17903297;15489334;15164053;14702039;12477932;12194967;20379614;17207965;17500595;21139048;21750579;21890473 54769 Q96HU8 AB076889;ABBA01012841;AK122986;AK124628;AL137308;AL353619;AMYH01021503;BC008065;CH471089;NM_017594 AAH08065;ADQ32818;BAC01116;BAG53834;EAW62780;NP_060064;Q96HU8 Hs.165636 1657823;2114042;2164537;2185936 A007K29;AB062937;RH35827;WI-21169 DKFZp761C07121;Di-Ras2 GTP-binding protein Di-Ras2;OTTHUMP00000021626;distinct subgroup of the Ras family member 2 APPROVED protein-coding ENSG00000165023 19323 09711 607863 VALIDATED 6480589 DISC1FP1 DISC1 fusion partner 1 (non-protein coding) q14.3 100873152 AK130626;EU302123 Hs.650302 miscrna 33625 1352451 DIS3L2P1 DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene 1 2 2 2 q37.1 227071053 227076980 + 233306749 233312676 + 233306749 233312676 + 11352565 282697 ABBA01002020;AC068134;AF307337;AMYH01011571;NG_009945 DIS3L2P;FAM6B APPROVED pseudo 14021 INFERRED 1353153 DIRC1 disrupted in renal carcinoma 1 This gene consists of two exons and encodes a 104aa protein. Disruption of this gene by translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 2010] 2 2 2 q33 183193383 183249705 - 189306710 189363076 - 189598465 189654831 - 6480464 15815621;15489334;12477932;11587072;11776380;20648054;23251661 116093 Q969H9 ABBA01062370;AC079613;AMYH01011343;AY039011;AY039012;AY039013;BC125137;CH471058;NG_027691;NM_052952 AAI25138;AAK83468;AAK83469;AAY15021;EAX10912;NP_443184;Q969H9 Hs.470892 2176216;2220484 D2S1815;UniSTS:483519 OTTHUMP00000163483;disrupted in renal cancer protein;disrupted in renal carcinoma protein 1 APPROVED protein-coding 15760 16219 606423 REVIEWED 1347711 DISC2 disrupted in schizophrenia 2 (non-protein coding) DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002] 1 1 1 q42.1 205219208 205223097 - 230016995 230020886 - 231950372 231954263 - 7240710 18164685;17912248;15478311;10814723;20339536 27184 ABBA01033044;AF222981;AL136171;AMYH01001821;NG_011681;NR_002227 Hs.720568 1341601;2152573;2174588 D1S1621;D1S1624;D1S3462 DISC1-AS1;DISC1OS;NCRNA00015 APPROVED miscrna 2889 181500;606271 VALIDATED 1322124 DIRC2 disrupted in renal carcinoma 2 This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008] 3 3 3 q21.1 120923989 121010083 + 123996597 124081451 + 122513901 122599986 + 1601072;6480464;7240710 11912179 16344560;15489334;15342556;14702039;12477932;12237231;21692750 84925 Q05BS2;Q96SL1 AA625541;ABBA01016466;AC048348;AC078794;AI079410;AI799012;AK027690;AK075158;AK291176;AMYH01013432;BC022204;BC033738;BC039821;BP377383;CH471052;DA268974;NG_023324;NM_032839 AAH33738;AAH39821;BAB55300;BAC11440;BAF83865;EAW79459;EAW79460;EAW79461;EAW79462;NP_116228;Q96SL1 Hs.477346 1658117;1659469;1663347;1735230;1770283;2119884;2218488 D3S2898E;D3S4220;DIRC2__4741;G16567;RH12232;STS-N25987;WI-20374 FLJ14784;RCC4 OTTHUMP00000215806;disrupted in renal cancer protein 2;disrupted in renal carcinoma protein 2;renal cell carcinoma 4 APPROVED protein-coding ENSG00000138463 16628 04142 144700;602773 REVIEWED 1317002 DISP1 dispatched homolog 1 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008] 1 1 1 q41 196320905 196398522 + 221168406 221245958 + 222988431 223179337 + 737633;5510026;6480464 12477932;20635334 19184110;14702039;12372301;10619433;20379614;16258256;20799323;16344560;20951845;22733134;21139048 84976 E7ERD1;Q96F81 ABBA01048045;ABBA01048046;AC093152;AK023679;AK026114;AK056569;AK098669;AK125728;AL133092;AL392172;AL513544;AMYH01001748;BC007734;BC011542;BC107762;CH471100;DA756409;NG_009243;NM_032890 AAH07734;AAH11542;AAI07763;BAB14637;BAB15365;BAC05373;BAG51751;CAB61406;EAW93264;NP_116279;Q96F81 Hs.528817;Hs.692324 1680140;1795690;2122938;2191313;5015619;5015961;5024756;5037552;5118877 CHLC.GGAA11H01;D11S3114;D11S3745;D15S1477;D8S2279;DISPA__1191;MARC_17261-17262:1024683436:1;RH80030;RH98328 DISPA;DKFZp434I0428;FLJ43740;MGC104180;MGC13130;MGC16796 OTTHUMP00000036011;dispatched A;protein dispatched homolog 1 APPROVED protein-coding ENSG00000154309 19711 06326 607502 REVIEWED 1606984 DIS3L DIS3 mitotic control homolog (S. cerevisiae)-like 15 15 15 q22.31 43475728 43516367 + 64372714 64413290 + 66585633 66626236 + 6480464 16341674;15342556;14702039;12477932;11853319;20531386;20531389;22990118;18029348;21906983 115752 B4DI34;E9PI20;E9PI27;E9PIL0;E9PKI7;E9PS35;Q8TF46 AB075835;ABBA01038828;ABBA01038829;ABBA01038830;AC055855;AK095407;AK295392;AMYH01006720;AMYH01006721;BC014124;BC022089;BG722405;BM833083;BP219623;CH471082;NM_001143688;NM_133375 AAH14124;AAH22089;ABM84396;ABW03567;BAB85541;BAC04542;BAG58346;EAW77758;EAW77759;EAW77760;EAW77761;NP_001137160;NP_588616;Q8TF46 Hs.446251 1646271;1728713;5021872;5037552 D8S2279;G63728;WI-15104;sY3084 DIS3L1;FLJ38088;KIAA1955;MGC4562 DIS3-like exonuclease 1;OTTHUMP00000164237;OTTHUMP00000228982 protein-coding ENSG00000166938 28698 11355 614183 VALIDATED 1604754 DIS3L2 DIS3 mitotic control homolog (S. cerevisiae)-like 2 The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012] 2 2 2 q37.1 226589534 226966072 + 232534537 232910152 + 232826293 233208678 + 6480464 18391951;16344560;14702039;12477932;11352565;16169070;19570815;20189936;20379614;22306653;21282530;21906983 129563 C9JGP4;H7C036;H7C1Q8;H7C302;H7C440;Q8IYB7 AA781347;ABBA01002021;ABBA01002022;ABBA01002023;ABBA01002024;ABBA01002025;ABBA01002026;ABBA01002027;ABBA01002028;ABBA01002029;AC013435;AC019130;AC068134;AC093374;AC105461;AC138658;AF443854;AK090419;AK094293;AK295363;AL834174;AMYH01011563;AMYH01011564;AMYH01011565;AMYH01011566;AMYH01011567;AMYH01011568;AMYH01011569;AMYH01011570;AW589919;BC026166;BC030113;BC036113;BG746662;BM128478;BX648325;CH471063;DA058505;NG_032572;NM_001257281;NM_001257282;NM_152383;NR_046476;NR_046477 AAH26166;AAH36113;AAP97321;AAX82031;AAY24086;ABW03373;ABW03712;BAC03400;BAC04324;BAG58327;CAH10545;CAH10694;EAW70988;NP_001244210;NP_001244211;NP_689596;Q8IYB7 Hs.732236 1647608;1672440;1705162;1758025;1769279;1783948;2137976;2140911;2159100;5015861;5093930 A009Z08;D10S16;D2S1819;D2S2801;G33007;RH68821;RH70119;RH78132;SHGC-112113;SHGC-147151;SHGC-80023 FAM6A;FLJ36974;MGC42174;PRLMNS;hDIS3L2 DIS3-like exonuclease 2;OTTHUMP00000203799;OTTHUMP00000203808;family with sequence similarity 6, member A APPROVED protein-coding ENSG00000144535 28648 14619 267000;614184 REVIEWED 736704 DISC1 disrupted in schizophrenia 1 This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 q42.1 229829184 230243641 + 231762561 232177018 + 1580863;5509829;5509831;5509833;5509834;5509828;5509830;5509836;5509826;5509832;6480464;7240710 21222298;20227423;15386212;15657124;10814723;20505556;18317464;21569632;16959794 19191256;15121183;12812986;15094396;17043677;19632097;19548263;19455170;19414483;19367581;19352214;19328558;19304459;19303846;19300510;19255581;19251251;19188535;19086053;19077115;19046394;18983980;18955030;18818052;18800054;18762586;18620078;18497105;18474207;18469341;18400883;18395819;18270998;18198266;18180429;18164685;18078707;18075479;17997036;17912248;17823207;17673452;17579608;17286247;17185386;17117617;17055463;17006672;16997000;16936759;16936715;16843095;16814263;16736468;16710414;16524593;16510495;16389590;16293762;16275808;16243297;16209927;16103888;16056147;16054297;16039834;15940305;15939883;15838535;15797709;15728732;15478311;15342131;15184103;20880836;21315744;14962739;14702039;14623284;14532331;12874605;12573262;12506198;12477932;11468279;11443544;10945471;9455484;20531939;20574532;20602615;20628343;20666147;17035248;18583979;19118814;19451621;19502360;19583211;19586833;19693267;19782967;19805229;19913623;19944766;20084519;20168324;20212127;20351714;20360304;20379614;20398908;20531374;21079610;22558309;20956536;20339536;20691427;20850505;21041608;20048751;21376542;21149852;21368031;21471969;21483430;21659360;22434823;22659396;21298101;21358711;22801410;21445958;21853134;22099458;22099459;21256178;21605958;21642004;21739582;22095064;22015021;21091867;21998303;22385968;22337479;22291444;22516458;22363459;22422769;22815203;23140672;22832604;22547224;23253390;21878470;23233134;23637159;21483435;22901592;23347445 27185 B1AM64;C4P092;C4P093;C4P094;C4P096;C4P098;C4P0A4;C4P0A5;C4P0B0;C4P0C4;C4P0C8;C4P0D0;C4P0D1;C4P0D2;C4P0D3;H0Y7U2;Q5T409;Q9NRI3 AB007926;ABBA01033042;ABBA01033043;ABBA01033044;ABBA01033045;ABBA01033046;ABBA01033047;ABBA01033048;ABBA01033049;ABBA01033050;AF222980;AF222983;AF222987;AI075754;AJ506177;AJ506178;AK023443;AK025293;AK096457;AL049973;AL136171;AL161743;AL359543;AL445200;AL450284;AL626763;AL751364;AMYH01001819;AMYH01001820;AMYH01001821;AMYH01001822;AMYH01001823;BC038954;BC142622;BC151225;CH471098;FJ804174;FJ804175;FJ804176;FJ804177;FJ804178;FJ804179;FJ804180;FJ804181;FJ804182;FJ804183;FJ804184;FJ804185;FJ804186;FJ804187;FJ804188;FJ804189;FJ804190;FJ804191;FJ804192;FJ804193;FJ804194;FJ804195;FJ804196;FJ804197;FJ804198;FJ804199;FJ804200;FJ804201;FJ804202;FJ804203;FJ804204;FJ804205;FJ804206;FJ804207;FJ804208;FJ804209;FJ804210;FJ804211;FJ804212;FJ804213;FJ804214;FJ804215;FJ804216;NG_011681;NM_001012957;NM_001012958;NM_001012959;NM_001164537;NM_001164538;NM_001164539;NM_001164540;NM_001164541;NM_001164542;NM_001164544;NM_001164545;NM_001164546;NM_001164547;NM_001164548;NM_001164549;NM_001164550;NM_001164551;NM_001164552;NM_001164553;NM_001164554;NM_001164555;NM_001164556;NM_018662 AAF73874;AAF73877;AAF73889;AAI51226;ACR40040;ACR40041;ACR40042;ACR40043;ACR40044;ACR40045;ACR40046;ACR40047;ACR40048;ACR40049;ACR40050;ACR40051;ACR40052;ACR40053;ACR40054;ACR40055;ACR40056;ACR40057;ACR40058;ACR40059;ACR40060;ACR40061;ACR40062;ACR40063;ACR40064;ACR40065;ACR40066;ACR40067;ACR40068;ACR40069;ACR40070;ACR40071;ACR40072;ACR40073;ACR40074;ACR40075;ACR40076;ACR40077;ACR40078;ACR40079;ACR40080;ACR40081;ACR40082;BAA32302;CAD44628;CAD44631;EAW69966;EAW69967;NP_001012975;NP_001012976;NP_001012977;NP_001158009;NP_001158010;NP_001158011;NP_001158012;NP_001158013;NP_001158014;NP_001158016;NP_001158017;NP_001158018;NP_001158019;NP_001158020;NP_001158021;NP_001158022;NP_001158023;NP_001158024;NP_001158025;NP_001158026;NP_001158027;NP_001158028;NP_061132;Q9NRI5 Hs.13318 1338865;1341601;1647392;1690688;1692726;1693134;1694500;1715905;1722529;1730505;1739921;1748699;1757185;1781280;1781662;1788414;1850528;2125822;2132045;2138868;2152573;2174588;2183194;5037552;7184806 AL009602;AL009787;AL034131;AL034292;D1S1621;D1S1624;D1S2191;D1S2517;D1S2709;D1S3462;D3S587;D8S2279;G60191;G65049;RH121953;RH122687;RH93065;SGC32126;SHGC-110351;SHGC-144606;SHGC-154930;SHGC-76522;SHGC-76529;fb76e10.y1 C1orf136;FLJ13381;FLJ21640;FLJ25311;FLJ41105;KIAA0457;SCZD9 OTTHUMP00000035955;OTTHUMP00000035956;OTTHUMP00000035959;OTTHUMP00000035960;Putative uncharacterized protein C1orf136;disrupted in schizophrenia 1 protein APPROVED protein-coding ENSG00000162946 2888 05553 181500;604906;605210 REVIEWED 1319977 DISP2 dispatched homolog 2 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 17416417 17429240 + 38437726 38450548 + 40650434 40663256 + 6480464 14702039;12477932;12372301;11214970;10619433;16258256 85455 A7MBM2;H0YNF0 AB051529;ABBA01038453;AC013356;AK096153;AMYH01006560;BC151833;CH471125;CR627480;NM_033510 A7MBM2;AAI51834;AAI69315;BAB21833;CAH10680;EAW92407;EAW92408;NP_277045 Hs.355645 1663793;1771532;1797478;2111103;2125613;2157716 2178;A004U40;D15S179E;DISPB_1538;NIB1989;RH77781 DISPB;DKFZp547N223;HsT16908;KIAA1742 OTTHUMP00000160444;dispatched B;protein dispatched homolog 2 APPROVED protein-coding ENSG00000140323 19712 06327 607503 REVIEWED 1312206 DIS3 DIS3 mitotic control homolog (S. cerevisiae) 13 13 13 q22.1 54228002 54254806 - 72227541 72254007 - 73329540 73356344 - 1580863;6480464 9562621;15231747;16344560;15635413;15489334;15057823;14702039;12429849;12419256;12168954;11935316;11812149;11719186;11110791;10231032;9110174;8619474;12477932;21145461;20531386;12788944;19615732;19056938;22863883;22939629;19471022;21139048;21890473;22586326;21252943;21255825;21963094;23000965;20531389;22505724 22894 F2Z2C0;G3V1J5;Q9UG36 AB001743;AB023225;ABBA01050336;AF035310;AF330044;AK001346;AK025634;AK314715;AL080158;AL138695;AL391384;AL832266;AMYH01005201;BC012468;BC038101;BC056143;CH471093;DB091752;NM_001128226;NM_014953;U79246 AAH38101;AAH56143;AAL37479;BAA76852;BAF92610;BAG37259;BAG50895;CAB45749;CAH56266;EAW80517;EAW80518;EAW80519;EAW80520;EAW80521;NP_001121698;NP_055768;Q9Y2L1 Hs.744104 1647455;1658740;1738439;1739623;1772330;2126764;2169355;2176579;2180629;2189789;5022425;5037552;5491683 126o3FWD;D13S1090E;D13S1212E;D22S296;D8S2279;MARC_7833-7834:996688078:3;RH15742;RH67956;RH78453;SHGC-34349;SHGC-8155;WI-11923;WI-20990 DKFZp667L1817;EXOSC11;FLJ10484;KIAA1008;MGC33035;RP11-342J4.3;RRP44;bA555G22.1;dis3p 2810028N01Rik;OTTHUMP00000018498;OTTHUMP00000018499;OTTHUMP00000018500;exosome complex exonuclease RRP44;exosome component 11;mitotic control protein dis3 homolog;protein DIS3 homolog;ribosomal RNA-processing protein 44 protein-coding ENSG00000083520 20604 06338 607533 VALIDATED 1320498 DIXDC1 DIX domain containing 1 The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 11 11 q23.1 111313137 111398518 + 111807927 111893308 + 1580863;6480464 19375513;18629627;16814745;16344560;15262978;14702039;12934113;12792787;12477932;11214970;9110174;8619474;19572978;20085589;20624590;21189423;19519246;21832049;17043677;20360068;21988832;22832659;23275563 85458 E7EQ17;E9PRV4;J3KQC9;Q155Q3 AB051522;AB074187;ABBA01039809;ABBA01039810;AF070621;AK055469;AK055899;AK074277;AK289807;AK294954;AMYH01004032;AMYH01004033;AP000907;AU253693;BC033034;BC035509;BC041626;BC048294;BC064479;BC128600;BX370159;CH471065;DA096120;DB358954;DB459100;DQ642016;FO082284;FP884231;HY037299;NG_033127;NM_001037954;NM_001278542;NM_033425 AAH33034;AAH35509;AAH41626;AAH48294;AAH64479;AAI28601;ABG25914;BAB21826;BAB71039;BAF82496;BAG51522;BAG58029;EAW67171;EAW67172;EAW67173;NP_001033043;NP_001265471;NP_219493;Q155Q3 Hs.655626 1654253;1699270;1701110;2218490;5024761 DIXDC1__4742;RH103217;RH104183;RH36905;STS-AA026898 CCD1;KIAA1735 DIX domain-containing protein 1;coiled-coil protein DIX1;coiled-coil-DIX1;dixin protein-coding ENSG00000150764 23695 16804 610493 REVIEWED 5132237 DKFZp451A211 uncharacterized LOC400169 13 q34 94883239 94888583 - 12477932 400169 ABBA01019869;AL160251;BC036906;BX647655;XM_003403663 XP_003403711 Hs.646609 1736322 D13S826E DKFZp451A211 protein;uncharacterized LOC400169 APPROVED protein-coding 13202 MODEL 2291761 DKFZp566H0824 hypothetical LOC54744 1 p36.23 8363370 8364407 - 12477932 54744 AL050271;AL356072;BC029383;BC104430;BC104431;BC113958;CH471130;XR_041382;XR_041383;XR_041384 EAW71602 Hs.607837;Hs.662784 miscrna 13214 1606381 DKFZp686K16132 similar to BMP2 inducible kinase 2 p14 69544467 69546754 - 12477932 388957 Q6ZSR9 AC114772;AK127187;BC073953;BC132937;BC132939;BX640963;NM_001012987 AAI32938;AAI32940;BAC86877;NP_001013005;Q6ZSR9 Hs.661949 protein-coding 10454 1346561 DKKL1P1 dickkopf-like 1 pseudogene 1 20 20 20 q11.21 26618123 26619029 + 29325534 29326431 + 29861856 29862762 + 128848 ABBA01019310;AL121723;AMYH01011828;NG_005524 DKKL2;dJ854E16.1 APPROVED pseudo 16593 INFERRED 1316435 DKK1 dickkopf WNT signaling pathway inhibitor 1 This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. [provided by RefSeq, Jul 2008] 10 10 q11.2 53744047 53747423 + 54074041 54077417 + 1580863;2293188;2301921;6480464;6907380;6907384;6907383;6907045;6907379;6907382 18432252;17143291;21567076;17437412;20019166;21773994;20131282 10383463;18461655;21164019;16263759;17353931;19060904;19453261;19424619;19396460;19389391;19358268;19303159;19273195;19252761;19247449;19093005;19067746;19040566;19016584;18978943;18843784;18653765;18606139;18571836;18561248;18546262;18521528;18505732;18502762;18331598;18305214;18297060;18294945;18163421;18157634;17987039;17984176;17876334;17702698;17700537;17657240;17643814;17485441;17449905;17373700;17329407;17255354;17245340;17237793;17159916;17068150;17026960;16919965;16863544;16763196;16646053;16568085;16491118;16293576;16189514;15923613;15694380;15592505;15592430;15542433;15489334;15451431;15378020;15340161;15231748;15229249;15117970;14695408;12975309;12740383;12477932;12167704;12050670;11840333;11516963;11448771;11357136;10965128;10570958;18339843;22527202;22430125;22386696;22455953;20033851;20628624;20634891;20797317;19943155;20618428;19407319;19477926;19540374;19657367;19675559;19711349;19744316;19776352;19787627;19820386;19898734;19926868;19936252;19955106;19995224;20004015;20019092;20038269;20039407;20062063;20093360;20101398;20139903;20153141;20932948;20653953;18044981;19746449;20613589;20929859;21076409;22120987;18166153;20543981;11742004;17804805;19832854;19895917;21034532;20819596;20847303;20920327;22576962;22815877;22898215;21098705;22358062;20549706;20603237;20843343;21062498;21317455;20650998;20957670;20589421;21029453;23396252;23600832;23152495;21304055;20823417;21540552;21344486;21362762;21389688;23261982;23316316;19720407;21607803;21683813;21531794;22122879;22399772;21562161;21617850;21935273;21811562;21955977;22032557;22042700;21546446;21984209;21663914;21805521;21944272;21858178;22022386;21712726;22015605;22278426;21944579;22000856;21988832;22984994;21909757;22048647;22321022;22391424;22496615;22589387;22796372;22363428;22447857;22649545;22738799;22966878;23041840;22592030;23348703;22789636;21833531;23028464;22723594;23125289 22943 I1W660;O94907 AB020315;ABBA01052510;AC009986;AF127563;AF177394;AF261157;AF261158;AK314902;AMYH01002742;AY359005;BC001539;BU752259;BX952450;CH471083;CS403559;CS537949;FB300279;JA063311;JA177597;JA210593;JA210704;JN966744;NM_012242 AAD21087;AAF02674;AAG15544;AAH01539;AAQ89364;ABM83148;ABM86347;AFI61647;BAA34651;BAG37416;CAL40393;CAM84952;CAR82120;CCA61731;CCA64135;CCA64580;CCA64583;EAW54144;NP_036374;O94907 Hs.40499 1666951 RH78803 DKK-1;SK OTTHUMP00000019617;dickkopf 1 homolog;dickkopf related protein-1;dickkopf-1 like;dickkopf-like protein 1;dickkopf-related protein 1;hDkk-1 APPROVED protein-coding ENSG00000107984 2891 05544 605189 REVIEWED 1349510 DKC1 dyskeratosis congenita 1, dyskerin This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] X X q28 153644344 153659154 + 153991031 154005964 + 734888;1580863;6480464;6907045;7240710 9590285 10591218;16601202;16618814;12135483;10556300;18936525;18802941;18627054;18607840;18057229;18005359;17822678;17625368;17417794;17395830;17081983;17015423;16964243;16690864;16565220;16381901;16344560;16169070;16083285;15814878;15635413;15613268;15489336;15489334;15302935;15044956;12736709;12477932;12437656;12429849;12137939;11790298;11379875;11256614;11076863;11074001;10903840;10700698;10583221;10438713;10364516;10217077;9888995;9042917;8889548;8125298;7607282;22058290;17361185;20332657;15060173;15189140;18029348;18358808;19615732;19734544;19755982;19835419;19879169;20501855;20008900;19095616;21145461;18082603;21480387;21415081;21601430;20811636;21182205;22990118;22099312;20360068;21674675;21736606;21900206;22085966;17620599;21820037;18781797;21139048;21890473;21906983;21963094;21987572;21931644;22113938;22912812;23000965;20301779;22939629;23246433;23335200;23348390;23752268;22664374 1736 C9IYT0;H7BZF2;H7C0M1;H7C2Q2;H7C2Q9;O60832 ABBA01029079;ABBA01029080;ABBA01029081;ABBA01029082;AC087225;AC109993;AF067008;AF067023;AJ010395;AJ010396;AJ224481;AK225077;AK307672;AMYH01023318;BC009928;BC010015;BI858251;BU730947;CD367400;CH471172;DA429806;DB517187;JF279874;NG_009780;NM_001142463;NM_001363;U59151 AAB94299;AAD11815;AAD20232;AAH09928;AAH10015;ABM83663;ABM86910;ADX66370;CAA11970;CAB51168;CAL37509;CAL37701;EAW72661;EAW72662;EAW72663;NP_001135935;NP_001354;O60832 Hs.4747 1651410;1799134;1810830;1811868;1812630;1814426;1817288;1817798;1818222;1820476;1820660;1821798;1823934;1825984;1827878;1827880;1833746;1835480;2039100;2039102;2039104;2039106;2039108;2039110;2039112;2039114;2039116;2039118;2039120;2039122;2039124;2039126;2039128;2039130;2039132;2039134;2039136;2039138;2039140;2039142;2039144;2039146;2039148;2039150;2039152;2039154;2039156;2039158;2039160;2039162;2039164;2039166;2039168;2039170;2039172;2039174;2039176;2039178;2039180;2039182;2039184;2039186;2039188;2039190;2039192;2039194;2039196;2039198;2039200;2039202;2039204;2039206;2039208;2039210;2039212;2039214;2039216;2039218;2039220;2039222;2039224;2039226;2039228;2039230;2039232;2039234;2039236;2039238;2102888;2102890;2102894;2102896;2102898;2102900;2102904;2102906;2176533 A004F19;ECD00413;ECD06413;ECD06938;ECD07325;ECD08242;ECD09694;ECD09953;ECD10168;ECD11313;ECD11405;ECD11985;ECD13062;ECD14101;ECD15062;ECD15063;ECD18018;ECD18896;IB1223;REN90571;REN90572;REN90573;REN90574;REN90575;REN90576;REN90577;REN90578;REN90579;REN90580;REN90581;REN90582;REN90583;REN90584;REN90585;REN90586;REN90587;REN90588;REN90589;REN90590;REN90591;REN90592;REN90593;REN90594;REN90595;REN90596;REN90597;REN90598;REN90599;REN90600;REN90601;REN90602;REN90603;REN90604;REN90605;REN90606;REN90607;REN90608;REN90609;REN90610;REN90611;REN90612;REN90613;REN90614;REN90615;REN90616;REN90617;REN90618;REN90619;REN90620;REN90621;REN90622;REN90623;REN90624;REN90625;REN90626;REN90627;REN90628;REN90629;REN90630;REN90631;REN90632;REN90633;REN90634;REN90635;REN90636;REN90637;REN90638;REN90639;REN90640;stSG604275;stSG604276;stSG604279;stSG604280;stSG604281;stSG604282;stSG604284;stSG604285 CBF5;DKC;DKCX;FLJ97620;NAP57;NOLA4;XAP101 CBF5 homolog;H/ACA ribonucleoprotein complex subunit 4;OTTHUMP00000026046;cbf5p homolog;nopp140-associated protein of 57 kDa;nucleolar protein NAP57;nucleolar protein family A member 4;snoRNP protein DKC1 APPROVED protein-coding ENSG00000130826 2890 02129 300126;300240;305000 REVIEWED 1344026 DKK2 dickkopf WNT signaling pathway inhibitor 2 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008] 4 4 q25 108062408 108176902 - 107842959 107957453 - 1580863;2301921;6480464;6907045 17143291 10570958;19247449;18524778;18461655;16568085;15489334;12975309;12527209;12477932;12167704;11742004;11357136;11137016;21540552;19453261;19562778;19659606;19755393;20004015;20332099;20379614;12857724;23204234;21312269;22964660 27123 D6RCC2;D6RGF1;Q9UBU2 AB033208;AB033941;AB035181;ABBA01063746;ABBA01063747;AC003099;AC106863;AF177395;AK309466;AK312695;AMYH01014448;AP001819;AY358414;BC075077;BC075078;BC126328;BC126330;CH471057;NM_014421 AAF02675;AAH75077;AAH75078;AAI26329;AAI26331;AAQ88780;ADR82889;BAA85465;BAA87056;BAB20420;BAG35574;EAX06208;EAX06209;NP_055236;Q9UBU2 Hs.211869 1653794;1658420;1660656;1665133;1689702;1709408;1853753;1853755;2108751;2110841;2173692 D4S3256;DKK2_8023;RH93230;SHGC-18769;SHGC-18773;SHGC-18797;SHGC-23149;SHGC-50934;SHGC-50938;SHGC-81733;UniSTS:471822 DKK-2 OTTHUMP00000161876;OTTHUMP00000219554;dickkopf 2;dickkopf 2 homolog;dickkopf homolog 2;dickkopf related protein-2;dickkopf-2;dickkopf-related protein 2;hDkk-2 APPROVED protein-coding ENSG00000155011 2892 05658 605415 REVIEWED 1318528 DKK4 dickkopf WNT signaling pathway inhibitor 4 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008] 8 8 p11.2-p11.1 42350743 42353831 - 42231586 42234674 - 1580863;2301921;6480464;6907045 17143291 22740476;10570958;19059704;18461655;18408752;17553464;15489334;15340161;12527209;12477932;11701963;20650998;19453261;19562778;19659606;19773279;21341386;22216841;21994129;23108157;22249261 27121 B4DWN3;Q9UBT3 AB017788;AB018005;ABBA01021155;AC107885;AF177397;AK301609;AMYH01018680;BC107046;BC107047;BX105775;CH471080;FB300276;NM_014420 AAF02677;AAI07047;AAI07048;BAA33438;BAA33475;BAG63095;CAR82119;EAW63220;NP_055235;Q9UBT3 Hs.159311 DKK-4;MGC129562;MGC129563 OTTHUMP00000226052;dickkopf-4;dickkopf-related protein 4;hDkk-4 APPROVED protein-coding ENSG00000104371 2894 05660 605417 REVIEWED 7174887 DLEC1P1 deleted in lung and esophageal cancer 1 pseudogene 1 3 38366728 38370561 - 100421153 ABBA01024825;AMYH01013091;AP006193;NG_025566 pseudo 44545 INFERRED 1350645 DKKL1 dickkopf-like 1 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 19 19 19 q13.33 46733898 46745228 + 54558854 54570185 + 49866987 49878373 + 1580863;6480464 10570958;17081983;15489334;12975309;12477932;17474147;19176879;17207965;22817830;21833088 27120 M0QYJ2;M0QZP1;M0R1E5;M0R1Q7;M0R2X7;Q9UK85 AB047818;ABBA01032931;AC010524;AF177398;AI879324;AMYH01009911;AY358922;BC030581;BI826695;BI826744;CH471177;FB300285;NM_001197301;NM_001197302;NM_014419 AAF02678;AAH30581;AAQ89281;ADQ31988;BAB12400;CAR82122;EAW52475;NP_001184230;NP_001184231;NP_055234;Q9UK85 Hs.515855 1658181 SHGC-56684 CT34;SGY;SGY-1;SGY1 cancer/testis antigen 34;dickkopf-like protein 1;protein soggy-1;soggy;soggy-1 APPROVED protein-coding ENSG00000104901 16528 10396 605418 REVIEWED 735273 DLAT dihydrolipoamide S-acetyltransferase This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009] 11 11 q23.1 111401381 111439799 + 111895538 111935002 + 1580863;2313667;2307427;6480464;6907045;7240710 16923172;11795479 3191998;19240061;19185000;18206651;17068145;16049940;15120760;14702039;14638692;12816949;12477932;12395322;11978179;9649469;8125298;8102256;3174635;3036145;2317220;21628590;12676647;15861126;20180236;20361979;20452482;7273846;20673868;20800603;20877624;21145461;22939629;19542561;22586326;21988832;23000965;23543758;23798571;21139048;22079093 1737 E9PEJ4;E9PKC7;F5H7M3;H0YDD4;P10515;Q86YI5 ABBA01039806;ABBA01039807;ABBA01039808;ABBA01039809;AF317200;AK057299;AK223596;AK296274;AK297103;AK299562;AK303930;AL832703;AMYH01004033;AMYH01004034;AP000907;AW188637;BC039084;CH471065;DB551427;EF444972;NG_013342;NM_001931;X13822;Y00978 AAG31658;AAH39084;ABM83373;ABM86584;ACA05975;BAD97316;BAG51900;BAG58983;BAG59614;BAG61505;BAG64858;CAA32052;CAA68787;EAW67174;EAW67175;NP_001922;P10515 Hs.335551 1855483;2108015;2127417;2142120;2161443;2180224 D11S3980;DLAT_8300;SHGC-30253;STS-AA025365;STS-Y00978;WI-14848 DLTA;PDC-E2;PDCE2 70 kDa mitochondrial autoantigen of primary biliary cirrhosis;E2 component of pyruvate dehydrogenase complex;M2 antigen complex 70 kDa subunit;OTTHUMP00000165200;OTTHUMP00000165201;OTTHUMP00000234435;PBC;dihydrolipoamide acetyltransferase;dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex;dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial;dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial;pyruvate dehydrogenase complex component E2 APPROVED protein-coding ENSG00000150768 2896 10578 245348;608770 REVIEWED 1353599 DLEU2L deleted in lymphocytic leukemia 2-like 1 1 1 p31-p22 62304577 62306233 + 63787239 63788895 + 64014651 64016307 + 6480464 11072235 79469 Q5JX12 ABBA01074569;AF254117;AL109925;AMYH01000676;NR_002771 Hs.659291 BCMSUNL pseudo 13225 PROVISIONAL 1353433 DKK3 dickkopf WNT signaling pathway inhibitor 3 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 11 11 p15.2 11941119 11987493 - 11984543 12030917 - 1580863;6480464 9070656;10570958;19562778;19496188;19493271;19457090;19453261;19437037;19279003;19192722;19051296;19003969;18922905;18826564;18654608;18461655;18443132;18247400;18059033;18048388;18033687;17347849;16981135;16751809;16609023;16568085;15998302;15516983;15489334;15340161;15226763;15087387;14767340;14702039;12975309;12527209;12477932;11814687;10652205;21323747;9110174;22076283;22473694;8619474;8125298;20514419;20616171;16713569;19570204;20050020;20379614;23154266;19859801;12844346;16712791;20666943;20627041;20811686;21042718;21042779;12857724;20532910;20978717;21572098;21796842;22421143;21835165;21879258;21987623;22071168;21932035;22589738;21796614;22274868;22529687;23538390;23006423;23529184;22555103 27122 E7EUD0;E9PHY3;E9PKK9;E9PKW6;F6SYF8;Q9UBP4 AB033421;AB034203;AB035182;AB057591;AB057804;ABBA01061138;ABBA01061139;AC124276;AF052161;AF177396;AF400439;AK090952;AK092979;AK098756;AK225156;AK289897;AK295441;AK295539;AL535720;AMYH01003393;AY358378;AY587550;BC007660;BQ690088;BQ690888;CB156451;CH471064;H18461;NM_001018057;NM_013253;NM_015881;U32331 AAC35996;AAF02676;AAH07660;AAK92488;AAQ88744;AAS86757;ABM83832;ABM87156;BAA85488;BAA87044;BAA90548;BAB84360;BAB84361;BAC03555;BAF82586;BAG52632;BAG58381;BAG58448;EAW68533;EAW68534;EAW68535;EAW68536;EAW68537;EAW68538;EAW68539;NP_001018067;NP_037385;NP_056965;Q9UBP4 Hs.292156;Hs.731954 1647830;1665048;1775240;2111192;2140520;2140522;2151558;2151560 1794;A001W38;D11S1381E;D11S2261E;D11S2388;G19726;RH65665;T03598 REIC;RIG OTTHUMP00000230783;OTTHUMP00000230784;OTTHUMP00000230785;OTTHUMP00000230786;RIG-like 5-6;RIG-like 7-1;dickkopf 3;dickkopf 3 homolog;dickkopf homolog 3;dickkopf-3;dickkopf-related protein 3;dkk-3;hDkk-3;regulated in glioma APPROVED protein-coding ENSG00000050165 2893 05659 605416 REVIEWED 6481279 DLEU7-AS1 DLEU7 antisense RNA 1 13 51381991 51424041 + 100874074 ABBA01051040;ABBA01051041;AL137880;AMYH01005115;BC035769;NR_046551 Hs.734030 APPROVED miscrna 39966 VALIDATED 1350283 DLEU2 deleted in lymphocytic leukemia 2 (non-protein coding) 13 13 13 q14.3 31611408 31754280 - 49454689 49597678 - 50556688 50699677 - 1580863;6480464 19347735;16499869;15188451;14636997;12477932;11559527;11264177;11161783;11072235;9395242;19591824;20451256;23593011 8847 ABBA01051033;ABBA01051034;ABBA01051035;AF075100;AF264787;AF380424;AF529010;AL137060;AL391993;AMYH01005111;AMYH01005112;AY455757;BC006995;BC017819;BC022282;BC022349;BC026275;BC030971;BC033120;BC038090;BC055417;BC070292;NR_002612;Y15228 Hs.547964 1654471;1654760;1671960;1684714;1686112;1690322;1740833;1847637;1851231;2107241;2115311;2135977;2135979;2137053;2153481;2162311;2167802;2171949;2217260;5014051;5017755;5019070;5021944;5022200;5024039;5037552;7183691 D13S1150;D13S1220;D13S1476;D16S325;D8S2278;D8S2279;DLEU1_3110;G44334;KCNRG__6503;L18426;Mirn16-1;RH44539;RH44787;RH45034;RH45599;RH47934;RH74762;RH74763;RH94230;SHGC-24128;SHGC-57506;STS-D29438;STS-N25204;STS-N70598;STS-T98557;TRIM13 1B4;BCMSUN;DLB2;LEU2;LINC00022;MGC88287;MIR15AHG;NCRNA00022;RFP2OS;TRIM13OS miscrna 13748 16151 605766 PROVISIONAL 1348392 DLEU1 deleted in lymphocytic leukemia 1 (non-protein coding) 13 13 13 q14.3 31711014 31734037 + 49554415 49577434 + 50656414 50679433 + 1580863;6480464 19347735;19260139;14702039;12477932;11406609;11161783;9395242;16169070;23593011;21833088 10301 O43261 ABBA01051034;ABBA01051035;AF490255;AJ412023;AJ412024;AJ412046;AJ412051;AJ412061;AJ412062;AK095311;AL137060;AL138696;AL157367;AL158195;AMYH01005112;BC020692;CR450325;NR_002605;Y15227 Hs.591229;Hs.712880 1686112;2115311;2217260;7183691 DLEU1_3110;RH74762;STS-N70598 BCMS;DLB1;DLEU2;LEU1;LEU2;LINC00021;MGC22430;NCRNA00021;XTP6 miscrna ENSG00000176124 13747 16150 605765 PROVISIONAL 1604836 DLEC1 deleted in lung and esophageal cancer 1 This gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal segment that is commonly deleted in various carcinomas. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins. Aberrant transcription of this gene may be involved in carcinogenesis of the lung, esophagus, and kidney. [provided by RefSeq, Jul 2008] 3 3 p21.3 38055700 38139232 + 38080696 38164228 + 7240710 20530412;10213508;19339270;19156137;18594535;18191269;17099870;16756719;8889548;20630829;12477932;18029348;20379614;20639048;21443130;20952247;23050586;22569009 9940 F8W6T4;Q32W76;Q9Y238 AB020522;AB026898;AB425198;ABBA01024827;ABBA01024828;ABBA01024829;ABBA01024830;ABBA01024831;ABBA01024832;ABBA01024833;ABBA01024834;ABBA01024835;ABBA01024836;ABBA01024837;ABBA01024838;ABBA01024839;ABBA01024840;AC144536;AK302803;AL137282;AL137706;AMYH01013088;AMYH01013089;AP006309;AY789462;AY789463;AY789464;BC129824;BC129825;BC171799;BU680752;CH471055;FB571431;NG_023237;NM_007335;NM_007337 AAI29825;AAI29826;AAI71799;AAI72408;AAX18633;AAX18634;AAX18635;BAA77247;BAA77624;BAG11659;BAG64005;CAB70676;CAB70884;CAR95133;EAW64508;EAW64509;EAW64510;EAW64511;EAW64512;NP_031361;NP_031363;Q9Y238 Hs.714499 1712280;1741417;1759805;1768515;1784874;2106943;2136642;2141163;2185730;5109281 ACAA1_2845.2;D1S1425;D3S3932;D3S4185;G54049;GDB:181192;SHGC-170056;SHGC-172524;STS-X14813;WI-19140 DLC1;F56 DLC-1;OTTHUMP00000161720;deleted in lung and esophageal cancer 1 transcript varient 2;deleted in lung and esophageal cancer protein 1 APPROVED protein-coding ENSG00000008226 2899 07234 133239;211980;604050 REVIEWED 1348290 DLD dihydrolipoamide dehydrogenase This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq, Jul 2008] 7 7 q31-q32 107318822 107348879 + 107531586 107561643 + 1580863;2306878;2307427;6480464;6907045;7240710;7242560 10672230;11795479;20645850 8506365;2188967;3278312;19405953;17960497;17404228;17171578;16584639;16442803;16263718;15946682;15826505;15712224;15389771;14638692;12690205;12477932;12297006;11935326;9934985;9727038;9040023;8619544;8406489;8125298;6897145;3693355;2055113;1993704;1332063;15576032;20228799;12676647;16396496;19122664;7273846;17207965;20877624;22939629;12601813;22863883;16196087;21543315;21930696;21139048;21890473;21906983;23455922;23475850;22586326;18029348;19738201;21963094;22304920;22944692;23128233 1738 B4DHG0;B4DT69;E9PEX6;F2Z2E3;F8WDM5;F8WDY5;P09622 AACC02000004;AB209703;ABBA01057899;AC005046;AK225289;AK225301;AK294146;AK295080;AK297508;AK300077;AK310220;AK312346;AMYH01017833;BC018648;BC018696;BI562331;CH236947;CH471070;J03490;J03620;L13761;M99384;NG_008045;NM_000108 AAA35759;AAA35764;AAA59527;AAB01381;AAH18648;AAH18696;ADQ32070;BAD92940;BAG35267;BAG57472;BAG58122;BAG59921;BAG61881;EAL24389;EAW83421;EAW83422;NP_000099;P09622 Hs.131711 1656025;1669448;1687764;1698700;1699738;1712234;1769234;1846733;2129457;2171452 D7S1572;D7S2064E;D7S2771;DLD;G54025;IB1079;RH102910;RH103475;RH80342;WIAF-2151 DLDD;DLDH;E3;GCSL;LAD;PHE3 E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex;OTTHUMP00000206744;OTTHUMP00000206746;OTTHUMP00000206748;OTTHUMP00000206749;diaphorase;dihydrolipoyl dehydrogenase, mitochondrial;glycine cleavage system L protein;glycine cleavage system protein L;lipoamide dehydrogenase;lipoamide reductase;lipoyl dehydrogenase APPROVED protein-coding ENSG00000091140 2898 02006 238331;246900;248600;256000 REVIEWED 68616 DLC1 deleted in liver cancer 1 This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010] 8 8 p22 12985243 13416766 - 12940872 13372429 - 1300391;1580863;6480464;7240710 10649492 22760257;17888903;17292327;12545165;19440389;19380190;19240061;19221866;19170769;19158340;19151751;19116449;19066281;18981889;18974116;18923442;18829524;18786931;18648664;18627284;18288400;17979893;17965626;16862168;16774933;16680376;16533763;16344560;15342556;15201975;14702039;14661059;14647417;14633684;12873722;12813468;12792785;12645648;12477932;11214970;10844022;10702663;9605766;8125298;17932950;17190795;16951145;19732724;23509962;19913121;20628086;19895840;20882354;16338927;19482022;19667410;19710422;19766077;19795399;19826001;19874489;19911011;20083228;20198346;20379614;20600027;20634475;20069572;16684779;21130076;21087603;20967756;20974048;21217778;21372205;22522847;21455586;22799310;21969587;22307599;22064653;22002576;22688191;22645138;23000965;23079702;21868344;23251661;22473989;22693251;22139079;23010077 10395 A8K119;E5RI70;E9PDZ8;Q9C0E0;R4GMP5 AB051510;ABBA01021622;ABBA01021623;ABBA01021624;ABBA01021625;ABBA01021626;ABBA01021627;ABBA01021628;AC015641;AC019270;AC022844;AC106845;AF026219;AF035119;AF408768;AK023128;AK024773;AK025544;AK025733;AK225098;AK289734;AK291682;AK299049;AL117604;AMYH01018527;AMYH01018528;AMYH01018529;BC049842;BC054511;BC095415;BP284911;CB961755;CH471080;DA549448;DQ092382;DQ092383;DQ092384;NG_015998;NM_001164271;NM_006094;NM_024767;NM_182643 AAB81637;AAB87700;AAH49842;AAH54511;AAK97501;AAZ32940;AAZ32941;AAZ32942;ACE86794;ACE87481;BAB14996;BAB21814;BAF82423;BAF84371;BAG61122;EAW63851;EAW63852;EAW63853;EAW63854;EAW63855;NP_001157743;NP_006085;NP_079043;NP_872584;Q96QB1 Hs.134296 1335303;1340091;1341861;1659461;1667635;1670806;1700234;1705552;1706926;1720975;1723161;1728199;1733992;1740167;1755925;1779175;1795092;1847127;1853210;1856946;2116361;2117614;2128532;2128534;2150494;2155268;2185153;2190693;2190695;2190697;2218492;5492027 A001Y28;D8S1182;D8S13124;D8S13129;D8S13141;D8S1513;D8S1636;D8S1690;D8S1754;D8S1790;D9Mco7;DLC1__4743;G10585;G19789;G59317;G63522;PMC97615P1;RH103734;RH12088;RH12354;RH123765;RH69819;SHGC-142756;SHGC-31942;SHGC-57503;SHGC-57963;SHGC-80952;SHGC-83879;STS-N74419;WI-18560;WI-22147;WIAF-1709 ARHGAP7;FLJ21120;HP;STARD12;p122-RhoGAP OTTHUMP00000116050;OTTHUMP00000116051;OTTHUMP00000116052;OTTHUMP00000218771;OTTHUMP00000218772;OTTHUMP00000225457;Rho-GTPase-activating protein 7;START domain-containing protein 12;StAR-related lipid transfer (START) domain containing 12;deleted in liver cancer 1 protein;deleted in liver cancer 1 variant 2;rho GTPase-activating protein 7;rho-type GTPase-activating protein 7 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000164741 2897 05035 133239;211980;604258 REVIEWED 6481397 DLG3-AS1 DLG3 antisense RNA 1 100873930 AL139398 APPROVED miscrna 40182 2312699 DLG2AS DLG2 antisense RNA (non-protein coding) q14.1 13130513 100302690 AF525782 Hs.684095 DLG2-AS;PSZA11q14;SZ-1 miscrna 37132 1605843 DLEU7 deleted in lymphocytic leukemia, 7 13 13 13 q14.3 32335784 32466889 - 50184760 50315886 - 51286759 51417885 - 6480464 19266077;18391952;18391951;15489334;14706829;14702039;12477932;20546612;19343178;20400458;22424883;20881960;23449627 220107 Q6UYE1 ABBA01051039;ABBA01051040;AC007304;AK126830;AL137880;AMYH01005115;AY357590;AY357595;BC104892;BC112009;NM_198989 AAI04893;AAI12010;AAR11480;AAR11481;BAC86712;NP_945340;Q6UYE1 Hs.710878 1700280;1731665;1740839;1755721;1853780;2134894;2150268 D13S1469;D13S294;RH103758;RH44573;RH46162;SGC34837;SHGC-142569 FLJ44882;MGC138214 OTTHUMP00000218764;leukemia-associated protein 7 protein-coding 17567 16825 PROVISIONAL 6770676 DLG1-AS1 DLG1 antisense RNA 1 3 197025118 197030622 + 12477932 100507086 ABBA01033765;AC092937;AMYH01013802;AW173272;BC039329;NR_038289 Hs.636103 APPROVED miscrna ENSG00000227375 44154 VALIDATED 731903 DLG1 discs, large homolog 1 (Drosophila) This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011] 3 3 q29 198253828 198509844 - 196769431 197025447 - 1580863;2306812;2306813;2306834;6480464;6484113;6907045;7240705 15221964;14871824;15703272;22717267 18725271;11140673;8825652;7937897;10646847;15302935;10779557;11274188;9341123;14699157;10656683;12766944;8922391;19307009;19213956;19086053;19066288;19017653;18930083;18760273;18665322;18461433;18245566;17980554;17713926;17696365;17574238;17332497;17172448;17069616;16637659;16619250;16473877;16466689;16228013;15699074;15673434;15485825;15286176;15024025;15021905;14960569;12970345;12933808;12902344;12860415;12807908;12713445;12668732;12507520;12477932;12419826;12351654;12189141;12175853;12097473;12081647;12070168;12067714;12050163;11726633;11723125;11602598;11572861;11567040;11440998;11279111;11181181;11134026;11060025;10993877;10939335;10859302;10619846;10595517;10336672;9786987;9756850;9677374;9512503;9286858;9148889;9115257;8601796;7477295;5024025;12151521;12511555;9024696;11997254;8938729;9808460;22383878;22377151;22657348;15729360;9192623;20551903;20691406;12763866;12857860;16316992;16482544;16825666;18311135;18793635;19118189;19586902;19615732;20201926;20356847;20379614;20398908;20643107;20605917;20702775;21041448;8889548;21164104;21489588;17237226;19841189;21113079;21595829;21615688;23576434;23782696;21850710;21849460;22745667;22272285;20980075;22378744;21139048;21890473;21906983;21858148;21963094;22792261;23000965;22027822;22307621;22185284;22225629;22434720;18946087;21762802;22004035;23532850 1739 A8MUT6;B4DF78;B4E2H8;C9IYP1;C9J110;C9JCP6;C9JN61;C9JUA9;E7EQD7;E7EWL7;F2Z2L0;H7C166 AA837080;AB209536;ABBA01033762;ABBA01033763;ABBA01033764;ABBA01033765;AC068302;AC092937;AI223994;AK293967;AK294772;AK294855;AK304280;AK310596;AK310893;AK311129;AL121981;AL831922;AMYH01013799;AMYH01013800;AMYH01013801;AMYH01013802;BC015560;BC028486;BC042118;BC140841;BC144651;BM728664;CH471191;EF553524;NG_029099;NM_001098424;NM_001204386;NM_001204387;NM_001204388;NM_004087;U13896;U13897 AAA50598;AAA50599;AAH15560;AAI40842;AAI44652;ABQ66269;BAD92773;BAG57339;BAG57902;BAG57959;BAG65140;CAD38582;EAW53610;EAW53611;EAW53612;EAW53613;EAW53614;NP_001091894;NP_001191315;NP_001191316;NP_001191317;NP_004078;Q12959 Hs.292549 1298243;1340111;1651793;1655065;1666007;1681330;1682333;1695936;1697024;1710186;1725735;1776809;1849177;2119753;2127617;2128572;2133171;2138747;5014023;5019801;5106313;7185467;7188007 A009W05;D13S1553;D3S1272;D3S1311;D3S2855E;D3S3326;D3S4117;G30445;G32903;G62059;RH101988;RH12686;RH46943;RH76431;RH93848;SHGC-64259;SHGC-77698;SHGC-77702;SHGC-78890;SHGC-82362;STS-R83329 DKFZp761P0818;DKFZp781B0426;DLGH1;SAP-97;SAP97;dJ1061C18.1.1;hdlg OTTHUMP00000151188;OTTHUMP00000165199;OTTHUMP00000165202;OTTHUMP00000165203;OTTHUMP00000165212;OTTHUMP00000165213;OTTHUMP00000208071;OTTHUMP00000208072;OTTHUMP00000208076;discs large homolog 1;disks large homolog 1;presynaptic protein SAP97;synapse-associated protein 97 APPROVED protein-coding ENSG00000075711 2900 03007 601014 REVIEWED 68630 DLG4 discs, large homolog 4 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 p13.1 7033933 7063781 - 7093209 7123369 - 1300301;1580863;2306834;6480464;5147998;6907045 15037549;15703272;11226670 12675619;15603740;15458844;15317815;15030493;15024025;14760703;14732708;12950712;12713445;12682061;12609736;12597860;12586822;12576483;12531901;12477932;12435606;12419528;12359873;12097473;12068077;12067714;12006486;11937501;11925566;11805122;11744724;11723117;11714708;11572861;11506858;11502259;11483650;11440998;11368788;11319238;11279111;11279080;11276111;11274188;11222640;11152698;11134026;11029657;10995758;10939335;10859302;10844022;10839362;10827173;10725395;10627592;10595517;10527873;10521598;10488080;10433268;10341223;10336672;10207009;10026200;9892651;9870942;9808460;9786987;9756850;9581762;9581761;9502803;9482110;9459447;9326658;9286858;9278515;9182804;9148889;9115257;9024696;9009191;8938729;8755482;8625413;8601796;7569905;12738960;11997254;10648730;14960569;12860415;12390249;11140673;11060025;11679592;16990550;15673434;7477295;9853749;9286702;10364559;12151521;19274064;19017653;18570704;18424056;18308477;17916412;17854350;17672918;17506933;17474715;17164261;17093888;16637659;16530958;16473877;16332682;17018285;19322201;15494726;9430700;21965656;19913121;20628086;10373510;10958799;12815021;14622581;15978582;16316992;16767099;16828986;16990791;16990796;17474147;18311135;19118189;19483657;19726651;19774677;20201926;8615909;8665664;9481670;20921115;16466689;21145461;22673509;22709448;21151988;15496675;19914352;21756874;21849550;22745667;22001757;22479202;11526121;17360663;19036954;21670103;21726550;22807451;22843680;22809504 1742 C9JWP9;C9JYG3;K7EKP9;K7EKU8;K7EQM6;O14909;P78352 AA954439;ABBA01054852;ABBA01054853;ABBA01054854;AC120057;AF028825;AF156495;AK293835;AK296357;AK297346;AK299801;AK307804;AK308533;AK316096;AMYH01008070;AMYH01008071;AMYH01008072;AMYH01008073;BC030203;BC040533;BC136553;BC144237;CH471108;NG_008391;NM_001128827;NM_001365;U68138;U83192 AAB07736;AAB84250;AAC52113;AAD56173;AAH40533;AAI36554;BAH11607;BAH12328;BAH12558;BAH13133;BAH14467;EAW90251;EAW90252;EAW90253;EAW90254;EAW90255;NP_001122299;NP_001356;P78352 Hs.463928 2219078 DLG4_4191 FLJ97752;FLJ98574;PSD95;SAP-90;SAP90 OTTHUMP00000166066;OTTHUMP00000166067;OTTHUMP00000166068;Tax interaction protein 15;discs large homolog 4;disks large homolog 4;post-synaptic density protein 95;postsynaptic density protein 95;synapse-associated protein 90 APPROVED protein-coding ENSG00000132535 2903 04199 602887 REVIEWED 7243074 DLGAP1-AS4 DLGAP1 antisense RNA 4 101410534 BI755422;CK005798;NR_102696;R18342 Hs.141055 miscrna 44333 VALIDATED 731938 DLG2 discs, large homolog 2 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008] 11 11 q14.1 82843701 84312113 - 83166055 85338314 - 728660;1580863;6480464 8755482 9786987;15304517;16192269;19086053;18464913;17506987;17052657;16640776;16344560;14702039;12713445;12477932;12445884;12421351;12351654;12070168;11997254;11771761;11572861;11274188;11095503;10725395;10648730;10197530;9806853;22544364;9753324;9677374;9581762;9278515;9182804;8889548;8625413;7477295;11134026;10844022;15024025;10862698;11122378;10234023;12067714;12890763;16192276;16637659;17903296;19118189;19570815;19736351;19807924;19931931;20054121;20379614;20398908;8922396;19389623;22745667;22359512;23251661;23201973 1740 A8MUT9;A8MVA8;B5MCC5;B7Z264;B7Z2T4;C9JFF9;E9PIJ9;E9PIW2;E9PN83;E9PPV7;E9PQT9;E9PRL2;E9PRX3;F5H5P1;F8W750;H7C325;Q15700;Q6ZSU2 AB209252;ABBA01017336;ABBA01017337;ABBA01017338;ABBA01017339;ABBA01017340;ABBA01017341;ABBA01017342;ABBA01017343;ABBA01017344;ABBA01017345;ABBA01017346;ABBA01017347;ABBA01017348;ABBA01017349;ABBA01017350;ABBA01017351;ABBA01017352;ABBA01017353;ABBA01017354;ABBA01017355;AC023118;AK094585;AK125151;AK125152;AK126776;AK127150;AK294375;AK295094;AK295624;AK299778;AK299797;AMYH01003840;AMYH01003841;AMYH01003842;AMYH01003843;AMYH01003844;AMYH01003845;AMYH01003846;AP000639;AP000642;AP000773;AP000852;AP000857;AP001791;AP001825;AP001984;AP002370;AP002751;AP002797;AP002803;AP002878;AP003026;AP003035;AP003093;AP003095;AP003305;BC104969;BC110844;BC143964;BM678399;BX537627;BX648386;CH471076;CR749820;CR933674;DA778233;DC303204;NG_021375;NM_001142699;NM_001142700;NM_001142702;NM_001206769;NM_001364;U32376 AAB04949;AAI56217;AAI72464;BAC86064;BAC86065;BAC86685;BAC86854;BAD92489;BAH11750;BAH11970;BAH12131;BAH13126;BAH13132;CAH18680;CAI45970;EAW75093;EAW75094;EAW75095;NP_001136171;NP_001136172;NP_001136174;NP_001193698;NP_001355;Q15700 Hs.367656 1337723;1338301;1340308;1340393;1340438;1643733;1648019;1660410;1661008;1664359;1666602;1703618;1704004;1705762;1707094;1707922;1709604;1714655;1714881;1719985;1720857;1732279;1732281;1736178;1737007;1737293;1737865;1747971;1748701;1749143;1755087;1760033;1766223;1769956;1772238;1773956;1774771;1776830;1782314;1782332;1788778;2113980;2116854;2120166;2120420;2124002;2130201;2144043;2162038;2168200;2168945;2182427;2184016;5020028;5111899;5124464;5493671;7186283;7186812 A008Z32;AB047600;D11S1050;D11S1065;D11S1178;D11S1198;D11S1274E;D11S1306;D11S1354;D11S1775;D11S1795;D11S1830;D11S1831;D11S2286E;D11S2448;D11S2632;D11S2753;D11S3157;D11S3466;D11S4135;D11S4147;D11S4391;D11S4576;D11S4634;G09682;G31484;G42651;G59256;G66814;RH119992;RH120435;RH123970;RH133947;RH36297;RH77937;RH78506;RH92118;SGC36948;SHGC-110352;SHGC-110815;SHGC-111342;SHGC-142019;SHGC-142578;SHGC-144038;SHGC-149583;SHGC-35661;SHGC-77789;SHGC-78710;SHGC-81306;SHGC-82213;SHGC-82830;SHGC-83478;SHGC-85163;STS-U32376;UniSTS:490161;WI-13599;WI-15537 DKFZp781D1854;DKFZp781E0954;FLJ37266;MGC131811;PPP1R58;PSD-93;PSD93;chapsyn-110 OTTHUMP00000165969;OTTHUMP00000165971;OTTHUMP00000165976;OTTHUMP00000165978;OTTHUMP00000235334;OTTHUMP00000235335;OTTHUMP00000235336;OTTHUMP00000235337;OTTHUMP00000235338;channel-associated protein of synapse-110;channel-associated protein of synapses, 110kDa;discs, large (drosophila) homolog 2 (chapsyn-110);discs, large homolog 2, chapsyn-110;discs, large homolog 2, chapsyn-110 (Drosophila);disks large homolog 2;postsynaptic density protein PSD-93;protein phosphatase 1, regulatory subunit 58 APPROVED protein-coding ENSG00000150672 2901 04663;08220 603583 REVIEWED 68628 DLG3 discs, large homolog 3 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] X X q13.1 69581449 69642062 + 69664705 69725340 + 727734;1300392;1580863;6480464;7240710 9598320;15185169 11274188;17353931;9188857;19167192;19086053;18029348;16637659;16482544;16192271;15146197;15024025;12738960;12713445;12576483;12477932;12351654;12175853;12070168;11937501;11572861;11134026;10862698;10725395;10595517;10574462;10542258;10026200;9808460;9753324;9581761;9278515;9115257;8780649;8702950;11997254;10373412;19322201;10958799;19118189;19342380;8889548;19913121;20628086;19795139;21252287;21369957;19389623;21384559;22745667;21139048;21890473;21906983;23103165;22745750 1741 Q59FY1;Q5JUW8;Q92796 AB033058;AB209328;ABBA01067573;ABBA01067574;ABBA01067575;ABBA01067576;ABBA01067577;ABBA01067578;ABBA01067579;AK303377;AK304020;AK315041;AK316518;AL139109;AL139398;AMYH01022528;BC093864;BC093866;CH471132;CK300381;CN357435;NG_015849;NM_001166278;NM_020730;NM_021120;U49089 AAB61453;AAH93864;AAH93866;BAA86546;BAD92565;BAG64433;BAG64935;BAH14889;EAX05333;EAX05334;EAX05335;EAX05336;EAX05337;EAX05338;NP_001159750;NP_065781;NP_066943;Q92796 Hs.721586 1334830;1660902;1733980;1855553;2107017;2125357;2128359 DLG3_4190;DXS348;DXS7496;DXS8107;RH36026;SGC30680;SGC33537 KIAA1232;MRX;MRX90;NE-Dlg;NEDLG;SAP-102;SAP102;XLMR OTTHUMP00000023475;OTTHUMP00000023476;OTTHUMP00000023477;discs, large homolog 3 (drosophila);discs, large homolog 3 (neuroendocrine-dlg, Drosophila);disks large homolog 3;neuroendocrine-DLG;synapse-associated protein 102 APPROVED protein-coding ENSG00000082458 2902 02177 300189;300850 REVIEWED 6893058 DLGAP1-AS1 DLGAP1 antisense RNA 1 18 p11.31 3594112 3597377 + 6480464 12477932;14702039 649446 ABBA01049858;AI275162;AK093095;AMYH01008781;AP002478;BC137437;NR_024101 BAC04052 Hs.19872 2169407;5015881 GDB:335751;WI-11618 HsT914 miscrna 31676 VALIDATED 734098 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 18 18 p11.31 3488837 3870135 - 3496030 4455266 - 728740;1580863;6480464;6907045 9024696 17474147;9286858;15673434;15345747;12954649;12477932;11122378;11060025;10844022;10527873;10521485;9756850;9221768;9115257;15729360;11148209;9694864;20936779;21041448;21070662;19913121;20628086;20237496;20379614;14702039;22940546;20352094;22566634;22558309;22911880;23247143;23251661 9229 A8MXQ8;A8MYR7;B7Z2J5;P78335 AB000276;AB000277;ABBA01049851;ABBA01049852;ABBA01049853;ABBA01049854;ABBA01049855;ABBA01049856;ABBA01049857;ABBA01049858;ABBA01049859;ABBA01049860;ABBA01049861;ABBA01049862;ABBA01049863;ABBA01049864;ABBA01049865;ABBA01049866;ABBA01049867;ABBA01049868;ABBA01049869;ABBA01049870;ABBA01049871;ABBA01049872;AK095761;AK294717;AK294747;AK294777;AK299880;AK304101;AK316099;AMYH01008781;AMYH01008782;AP002472;AP002478;AP005130;AP005204;AP005208;AP005241;AP005403;AP006220;BC040718;BC070175;BC136453;BC136454;CH471113;CR743383;NM_001003809;NM_001242761;NM_001242762;NM_001242763;NM_001242764;NM_001242765;NM_001242766;NM_004746;U67988 AAC51119;AAH70175;AAI36454;AAI36455;BAA23257;BAA23258;BAH11858;BAH11868;BAH11881;BAH13160;BAH14105;BAH14470;EAX01652;EAX01653;EAX01654;EAX01655;EAX01656;EAX01657;EAX01658;EAX01659;NP_001003809;NP_001229690;NP_001229691;NP_001229692;NP_001229693;NP_001229694;NP_001229695;NP_004737;O14490 Hs.594640;Hs.654793 1335869;1337527;1339646;1643981;1661924;1671839;1675307;1682654;1713763;1725481;1775947;1777618;1849272;2141309;2169407;7185275;7187843 D18S1050;D18S1138;D18S378;D18S459;D18S54;RH119137;RH120768;RH16210;RH94333;SGC35853;SHGC-32291;STS-H99079;STS-W89128;WI-11618;WI-14719 DAP-1;DAP-1-ALPHA;DAP-1-BETA;FLJ38442;GKAP;MGC88156;SAPAP1;hGKAP OTTHUMP00000162272;OTTHUMP00000174374;OTTHUMP00000174375;OTTHUMP00000174376;OTTHUMP00000174377;OTTHUMP00000174378;PSD-95/SAP90 binding protein 1;PSD-95/SAP90-binding protein 1;SAP90/PSD-95-associated protein 1;disks large-associated protein 1;guanylate kinase-associated protein protein-coding ENSG00000170579 2905 09260 605445 VALIDATED 6893047 DLGAP1-AS2 DLGAP1 antisense RNA 2 18 p11.31 3603649 3608319 + 21832049;12477932;14702039 84777 ABBA01049858;AK091102;AK312196;AMYH01008781;AP002478;BC005130;BC094703;XR_109464;XR_111762;XR_172234 BAG35129 Hs.659053;Hs.729893 1777618;5022651 D11S2921;STS-H99079 miscrna 28146 MODEL 6892994 DLGAP1-AS5 DLGAP1 antisense RNA 5 18 p11.31 4264602 4296000 + 14702039;16344560 284215 ABBA01049868;ABBA01049869;AK098180;AMYH01008782;AP005208;AP006220;DA301744;NR_036489 Hs.647594 miscrna ENSG00000261520 27586 VALIDATED 1318707 DLG5 discs, large homolog 5 (Drosophila) This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 10 10 q23 79220555 79356354 - 79550549 79686348 - 1580863;6480464 12353226;9738934;19422935;18824555;18804983;18715515;18559397;18466472;18433468;18397186;18338763;18335190;17693570;17544013;17476680;17455201;17451203;17307543;17156146;17100974;17081983;16944184;16773680;16670524;16670523;16534418;16494592;16493449;16450402;16446977;16437728;16391570;16344053;15955786;15952887;15930978;15843420;15841097;15665285;15489334;15164054;15107852;14702039;12657639;12477932;11876824;10903836;9628581;16169070;21145461;16192281;16385451;19423540;20037206;20379614;20406964;20438785;20796250;20886065;16196087;21674725;22065243;23455922;23624079;21139048;21890473;22118696;22001757;23000965;23251661 9231 Q9UE73;R4GMQ2 AB011155;AB091676;ABBA01020229;AF352033;AK055172;AK055265;AK122931;AK314771;AL391421;AL450306;AMYH01002850;BC002915;BC013378;BC015053;BC030250;BC051757;BC073996;BC086867;BC117695;BC146794;BX649131;CH471083;HI179136;NG_011484;NM_004747;U61843 AAC61295;AAH73996;AAI17696;AAI46795;AAL83937;BAA25509;BAC65420;BAG37308;CBX53876;EAW54609;EAW54610;EAW54611;EAW54612;NP_004738;Q8TDM6 Hs.652690 1656041;1726763;1731014;1731016;1790269;2144301;2145676;2164177;5020938;5037552;5090906 A001X23;D10S1342E;D10S368;D10S423;D8S2279;G07285;G19749;G62769;KS619;RH44838;SHGC-57807 KIAA0583;LP-DLG;P-DLG5;PDLG OTTHUMP00000019917;OTTHUMP00000019918;discs large protein LP-DLG;discs large protein P-dlg;disks large homolog 5;large type of P-DLG;placenta and prostate DLG APPROVED protein-coding ENSG00000151208 2904 04972 604090 REVIEWED 2793690 DLGAP5P1 discs, large (Drosophila) homolog-associated protein 5 pseudogene 1 Y Y p11.2 6086738 6087973 + 6026839 6027874 + 12815422;9847074 360014 AC010140;NG_002932 pseudo 23945 INFERRED 6892999 DLGAP1-AS3 DLGAP1 antisense RNA 3 18 p11.31 3878180 3897069 + 12477932;23251661 201477 ABBA01049865;ABBA01049866;AMYH01008781;AP005204;BC039546;NR_038895 Hs.627208 miscrna ENSG00000263724 27317 VALIDATED 1345358 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 The product of this gene is a membrane-associated guanylate kinase. The encoded protein may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Mar 2013] 8 8 p23 1436976 1644049 + 1496790 1656642 + 1580863;6480464 9694864;10759891;15030493;14508709;11700307;11368788;10854099;10824095;10521485;9314494;9286858;9221768;9115257;10527873;19913121;20628086;18055845;12477932;17474147;19736351;20379614;20531469 9228 H0YBY6;Q9P1A6 AA443942;AA444121;AB000275;ABBA01016740;ABBA01016741;ABBA01016742;ABBA01016743;AC005010;AC126333;AF009204;AF119817;AF119818;AMYH01018276;AW195368;BC141862;CH471181;NG_009409;NM_001277161;NM_004745 AAB71661;AAF34344;AAF34345;AAI41863;BAA23256;EAW51474;EAW51475;NP_001264090;NP_004736;Q9P1A6 Hs.113287 1760451;1786836;1857522;2122443;2132023;2132025;2133824;2134860;2153420;2165711;2217262 A004F35;AF009207;AF009208;AF009212;D15S792;D8S2129;DLGAP2_3498;RH11661;SHGC-142939;SHGC-172453;SHGC-2740 DAP2;SAPAP2 OTTHUMP00000224434;OTTHUMP00000224435;PSD-95/SAP90-binding protein 2;SAP90/PSD-95-associated protein 2;disks large-associated protein 2 APPROVED protein-coding ENSG00000198010 2906 09258 605438 REVIEWED 1347439 DLGAP3 discs, large (Drosophila) homolog-associated protein 3 1 1 p35.3-p34.1 35103624 35143571 - 35331037 35370984 - 1580863;6480464 17474147;19096451;19051237;16202977;12477932;9110174;8619474;10527873;9115257;21145461;21184590;22761992;21295225;21990008 58512 O95886 ABBA01023361;AC114490;AF131778;AK294907;AL122010;AMYH01000486;BC114369;BC114370;NM_001080418 AAD20042;AAI14370;AAI14371;BAG57994;NP_001073887;O95886 Hs.733945 DAP3;SAPAP3 DAP-3;OTTHUMP00000004180;PSD-95/SAP90-binding protein 3;SAP90/PSD 95 associated protein 3;SAP90/PSD-95-associated protein 3;disks large-associated protein 3 protein-coding ENSG00000116544 30368 611413 PROVISIONAL 733842 DLL1 delta-like 1 (Drosophila) DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008] 6 6 q27 170433219 170441622 - 170591294 170599697 - 1580863;1304491;1304492;2302204;6480464;6482235;6482236;6482238;6484113;6907045 14743446;10079256;17761886;17947672;17114010;21220737 15254769;11823422;11581320;11912004;19150223;18676613;18320325;17584735;17234965;16344560;16317090;16307184;16225865;15976178;15908431;15905513;15851488;15781650;15509766;15492857;14574404;12975309;12826675;12794186;12684674;12482954;12393852;12050162;12036964;11006133;10958687;10688816;10473135;10473134;9882480;9858718;11346656;9244302;14769803;21931765;14529612;17939407;19590514;19603167;19680556;19724883;20418862;22094583;20554499;21238798;21196490;17301032;20170633;21372153;21643850;21742847;22080880;23300864;19682396;21602795;22561395;21602525;21726900;21392732;21985982;21949024;22658936;21980299;21911304;20812035;23327670 28514 O00548 ABBA01030854;AF196571;AF222310;AK314234;AL078605;AMYH01016886;AY358892;BC028096;CH471051;DA243552;DR000029;NG_027940;NM_005618 AAF05834;AAG09716;AAI52804;AAQ89251;BAG36904;EAW47425;NP_005609;O00548 Hs.379912 1795692;5494199 DLL1_1441;Dll1 DELTA1;DL1;Delta H-Delta-1;OTTHUMP00000017690;delta-like 1 protein;delta-like protein 1;drosophila Delta homolog 1 APPROVED protein-coding ENSG00000198719 2908 05957 606582 REVIEWED 1605091 DLGAP4 discs, large (Drosophila) homolog-associated protein 4 The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 31702551 31864100 + 34428858 34590454 + 34995444 35157040 + 6480464 16275660;17474147;19086053;16344560;15146197;14702039;12477932;11780052;10521485;10231032;9115257;10527873;16169070;11487731;9620694;9581761;10862698;12675619;16751776;21900206;21139048 22839 F8WF49;Q9Y2H0 AB023181;ABBA01006569;ABBA01006570;ABBA01006571;ABBA01006572;ABBA01006573;ABBA01006574;ABBA01006575;AF088030;AI984397;AK001681;AK024674;AK055152;AK057672;AK125383;AL050318;AL390374;AL445705;AMYH01011878;AMYH01011879;AMYH01011880;AMYH01011881;BC023214;BC108706;BC118623;BC153874;BF345846;BU845397;CH471077;CN419826;DA215461;DA688888;DB283453;DQ575843;NM_001042486;NM_014902;NM_183006 AAI08707;AAI53875;AAI67861;BAA76808;EAW76135;EAW76136;EAW76137;EAW76138;EAW76139;EAW76140;NP_001035951;NP_055717;NP_892118;Q9Y2H0 Hs.249600 1655016;1712553;1773263;1780440;2150573;2175164;2182667;2217264;5015861;5020635;5024039;5109281;7185938 AL031198;D10S16;D16S325;D1S1425;D20S581E;D7S3207;DLGAP_4_3548;N28159;RH66100;SHGC-35710;STS-R40690;stbA2182L9A DAP4;DLP4;FLJ20588;KIAA0964;MGC131862;RP5-977B1.6;SAPAP4 DAP-4;OTTHUMP00000030861;OTTHUMP00000030862;OTTHUMP00000030863;PSD-95/SAP90-binding protein 4;SAP90/PSD-95-associated protein 4;SAPAP-4;disks large associated protein 4;disks large-associated protein 4 APPROVED protein-coding ENSG00000080845 24476 16826 REVIEWED 1343406 DLSTP1 dihydrolipoamide S-succinyltransferase pseudogene 1 1 1 1 p31 74447616 74450373 - 75980279 75983282 - 76207708 76210467 - 1580863 21628590;8076640;8009371 1744 Q16187 ABBA01074418;AL357314;AMYH01000713;D29970;NG_002326;NG_007045 1792750;1792756;2189357 MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P4 DLSTP APPROVED pseudo 2912 INFERRED 1322602 DLGAP5 discs, large (Drosophila) homolog-associated protein 5 14 14 q22.3 54684601 54728149 - 55614834 55658396 - 1580863;6480464 15145941;12527899;19139432;18321990;17322106;17081983;16964243;16769820;16565220;16341674;16189514;15987997;15489334;15340842;15302935;14729942;12477932;11543626;9179496;7584028;7584026;12902344;21832049;22939629;21924616;22048964;19471022;21139048;22230478;22022601;23610398;23056639 9787 G3V4E5;G3V543;Q15398 AB076695;ABBA01018201;ABBA01018202;ABBA01018203;AI174844;AK291847;AK297480;AK299338;AL139316;AMYH01005744;BC010658;BC016276;BM788630;BT007344;BX248255;CH471061;D13633;DB448424;DB451654;HC250953;HC311142;NM_001146015;NM_014750 AAH10658;AAH16276;AAP36008;BAA02797;BAB97376;BAF84536;BAG59901;BAG61340;CAD62583;CBJ05774;CBJ21226;EAW80662;EAW80663;EAW80664;NP_001139487;NP_055565;Q15398 Hs.77695 1646485;2108017;2120660 D14S1183;DLG7_7956;G36257 DLG7;HURP;KIAA0008 DAP-5;Drosophila discs large-1 tumor suppressor-like;OTTHUMP00000179006;OTTHUMP00000179007;discs large homolog 7;discs, large homolog 7;disks large-associated protein 5;disks large-associated protein DLG7;hepatoma up-regulated protein protein-coding ENSG00000126787 16864 06490 VALIDATED 732542 DLK1 delta-like 1 homolog (Drosophila) This gene encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor. It is one of several imprinted genes located in a region of on chr 14q32. Certain mutations in this imprinted region can cause phenotypes similar to maternal and paternal uniparental disomy of chromosome 14 (UPD14). This gene is expressed from the paternal allele. A polymorphism within this gene has been associated with child and adolescent obesity. The mode of inheritance for this polymorphism is polar overdominance; this non-Mendelian inheritance pattern was first described in sheep with the callipyge phenotype, which is characterized by muscle hypertrophy and decreased fat mass. [provided by RefSeq, Mar 2010] 14 14 q32 100263006 100271213 + 101193202 101201467 + 1625600;1625622;1580863;6480464;6484113;7240533 16288219;14743499;20626350 22238367;8500166;7925474;8095043;19453261;18628527;18575777;18454453;18398438;18375047;18352842;18248640;18176563;17601927;17182623;16901742;16403460;15959531;15806146;15489334;15340161;15289021;15120973;15068508;12768436;12672031;12477932;12112016;11846389;11742219;11701723;10508217;10393432;10354070;8985741;8501199;7711066;3470797;2308864;21761283;21252254;20214740;19779261;11076856;11168589;11337479;11731499;12045206;12239715;12815599;15010842;15677533;15798773;15854893;16439445;16778176;17213841;18282507;18478039;18532878;18698157;19427405;19477929;19541743;19685073;19786834;19934310;19966805;20058200;20089961;9001251;20356822;20331358;17207965;20959062;20561424;22513084;22943828;23145177;15605081;18236070;22508185;21737452;21871428;22259053;22825660;22292722;23415968;22139419 8788 G3V2R7;G3XAH5;P80370;Q969Y6 ABBA01048521;ABBA01048522;ABBA01048523;AK289384;AK297918;AK313258;AL132711;AMYH01006015;BC007741;BC013197;BC014015;BU176937;BX357053;CB857925;CH471061;CR621464;DB498121;DQ017081;DQ126100;DQ138965;DQ309460;NG_016863;NM_003836;U15979;U15981;X17544;Z12172 AAA75364;AAA75365;AAH07741;AAH13197;AAH14015;AAY40461;AAZ38943;AAZ66768;ABC26875;ADQ32169;BAF82073;BAG36068;BAG60236;CAA35582;CAA78163;EAW81711;EAW81712;EAW81713;NP_003827;P80370 Hs.533717 1657553;1722443;1797100;2132655 DLK1;G60298;RH18094;RH69622 DLK;DLK-1;Delta1;FA1;PREF1;Pref-1;ZOG;pG2 DLK-1;OTTHUMP00000246567;OTTHUMP00000246568;delta-like homolog (drosophila);fetal antigen 1;preadipocyte factor 1;protein delta homolog 1;secredeltin APPROVED protein-coding ENSG00000185559 2907 01446 176290 REVIEWED 1319320 DLK2 delta-like 2 homolog (Drosophila) 6 6 6 p21.1 44969675 44975371 - 43526068 43531764 - 43418090 43423786 - 6480464 17320102;16189514;15489334;14702039;14574404;12975309;12477932;21832049 65989 H0Y5P1;Q5T3T9;Q5T3U0;Q6UY11 ABBA01050682;ABBA01050683;AK055380;AL359813;AMYH01016313;AMYH01016314;AY358126;BC000230;BC006425;BC110320;BI916137;CH471081;CQ848428;NM_023932;NM_206539 AAH00230;AAH06425;AAI10321;AAQ88493;BAG51509;CAH18056;EAX04186;EAX04187;EAX04188;EAX04189;EAX04190;EAX04191;NP_076421;NP_996262;Q6UY11 Hs.337251 1797244 ABCC10_2608 EGFL9;MGC111055;MGC2487 DLK-2;EGF-like protein 9;EGF-like-domain, multiple 9;OTTHUMP00000016447;OTTHUMP00000016449;OTTHUMP00000016450;OTTHUMP00000016451;epidermal growth factor-like protein 9;protein delta homolog 2 protein-coding ENSG00000171462 21113 16855 VALIDATED 735462 DLL3 delta-like 3 (Drosophila) This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 q13 44681427 44690949 + 39989557 39999121 + 1599775;1580863;1304491;1304493;2302204;6480464;6484113;6907045;7240710 10742114;14743446;12141422;17761886 18676613;16344560;16303743;15717203;15489334;15200511;12791036;12746394;12477932;11923214;10364530;19453261;21048031;20301771;20687255;23337976 10683 M0R177;Q9NYJ7 AA865362;ABBA01040731;ABBA01040732;AC011500;AF241373;AK075302;AK308460;AMYH01009794;BC000218;BQ420593;CH471126;DB035825;NG_008256;NM_016941;NM_203486 AAF62542;AAH00218;ABM82773;ABM85961;BAC11535;EAW56905;EAW56906;NP_058637;NP_982353;Q9NYJ7 Hs.127792 SCDO1 delta-like protein 3;delta3;drosophila Delta homolog 3 APPROVED protein-coding ENSG00000090932 2909 04140 277300;602768 REVIEWED 1320241 DLL4 delta-like 4 (Drosophila) This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008] 15 15 q14 39008839 39018529 + 41221531 41231258 + 1580863;2302204;6480464;6484113;6907045 17761886 22020917;21526177;10837024;19263417;19208840;18577711;18435556;18339870;18056450;18055448;17998388;17916635;17822320;17692341;17664272;17533181;17157169;16914569;16204037;15820317;15489334;15340161;14990974;12975309;12814948;12684674;12482957;12477932;12200365;11798067;11739188;11134954;22699504;20508179;23207622;20558614;20167561;16344560;20167860;20182391;19816565;20036815;20193271;20959466;21045140;22296176;21212269;23086751;21372153;21362319;21362320;21474814;21726900;22066479;21832157;22010178;21517260;22589738;23300864;23239744;23275120 54567 Q9NR61 AB036931;AB043894;ABBA01038427;AC020661;AF253468;AF279305;AI478830;AK308755;AK313831;AMYH01006566;AY358894;BC106950;BI820351;CH471125;DA089757;NM_019074 AAF76427;AAF81912;AAI06951;AAQ89253;BAB16085;BAB18581;BAG36565;EAW92466;NP_061947;Q9NR61 Hs.511076 1676332;1794520;1794522;1795694;2106813;2185908 DLL4_593;PMC316657P1;PMC316657P2;RH78211;UniSTS:465451;UniSTS:70152 MGC126344;hdelta2 delta 4;delta ligand 4;delta-like 4 homolog;delta-like 4 protein;delta-like protein 4;delta4;drosophila Delta homolog 4;notch ligand DLL4;notch ligand delta-2 APPROVED protein-coding ENSG00000128917 2910 05540 605185 REVIEWED 1312529 DLX2 distal-less homeobox 2 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008] 2 2 q32 172672412 172675724 - 172964166 172967478 - 1580863;6480464;7240710 1354641;7590232;19453261;19018235;18728693;15751970;15489334;12957859;12477932;11675124;9111364;8812481;7907794;7901126;11279128;20634891;21108812;21357706;21890473;21917150;15576338;23312518 1746 B7ZA14;Q07687;Q53QU7 AA912071;AB208823;ABBA01020734;AC104801;AK291367;AK297503;AK316129;AMYH01011265;BC032558;BE905163;CH471058;L07919;NG_009219;NM_004405;U51003 AAA19663;AAB40902;AAH32558;AAY14956;ADR82772;BAD92060;BAF84056;BAG59916;BAH14500;EAX11180;NP_004396;Q07687 Hs.419 2148718 RH68996 TES-1;TES1 OTTHUMP00000163116;distal-less homeo box 2;homeobox protein DLX-2 APPROVED protein-coding ENSG00000115844 2915 00527 126255;600202 REVIEWED 1320012 DLX1 distal-less homeobox 1 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 q32 166566309 166570503 + 172658454 172662648 + 172950208 172954402 + 6480464 19453261;19058789;18728693;18384059;16266434;15489334;14769946;14702039;14671321;12477932;12050665;7907794;20634891;21357706;22984994;23312518 1745 F8VXJ2;F8VZ54;J3KP55;P56177 ABBA01020734;AC015976;AK095266;AK290503;AK308842;AMYH01011265;AY257976;BC013010;BC036189;BC053351;CH471058;NG_009218;NM_001038493;NM_178120 AAH36189;AAH53351;AAO91939;AAY14732;ABW03404;ABW03739;BAC04515;BAF83192;EAX11181;EAX11182;EAX11183;EAX11184;EAX11185;EAX11186;EAX11187;NP_001033582;NP_835221;P56177 Hs.407015 1795696 DLX1_1597 OTTHUMP00000082494;OTTHUMP00000082495;OTTHUMP00000082497;OTTHUMP00000242111;OTTHUMP00000242112;distal-less homeo box 1;homeobox protein DLX-1 APPROVED protein-coding ENSG00000144355 2914 08961 600029 REVIEWED 1318695 DLX4 distal-less homeobox 4 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008] 17 17 q21.33 45401551 45406958 + 48046562 48052323 + 1580863;6480464 16712791;17062780;17474147;9073066;11069021;19242057;18992636;18978678;18931648;18420035;18026954;17999690;17260014;17003054;15489334;15308321;12820413;12477932;11909945;11792834;11707330;11084035;10831122;9665637;9481790;9467018;9096128;8975708;20634891;23091415;21297662;21602546 1748 Q92988 ABBA01041222;AC009720;AF028235;AF254115;AF452638;AMYH01008470;BC005812;BC014419;BC016145;BG479840;BT006978;BX105774;BX113580;CB131875;CH471109;DR004878;NG_030592;NM_001934;NM_138281;U31762;U73328 AAC14398;AAC50942;AAC51171;AAG31975;AAH05812;AAH14419;AAH16145;AAL99503;AAP35624;EAW94651;EAW94652;EAW94653;EAW94654;EAW94655;NP_001925;NP_612138;Q92988 Hs.591167 1298103;1298180;1298204;1768999;1793272;2154467;5021708 D4S2366;D4S2397;D4S2639;PMC20354P1;RH12668;RH36424;ksks321 BP1;DLX7;DLX8;DLX9 OTTHUMP00000220790;OTTHUMP00000220791;beta protein 1;distal-less homeo box 7;distal-less homeo box 9;homeobox protein DLX-4;homeobox protein DLX-7;homeobox protein DLX-8 APPROVED protein-coding ENSG00000108813 2917 03553 601911 REVIEWED 1351427 DM1 dystrophia myotonica 1 (includes dystrophia myotonia protein kinase) 338023 2923 6481399 DLX6-AS2 DLX6 antisense RNA 2 100873931 AC004774 APPROVED miscrna 40183 1351694 DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 q24.3 74418372 74440199 + 75348594 75370450 + 1358587;1580863;2306878;6480464;6907045 10227647;10672230 8009371;18029348;2188967;16344560;16169070;15489334;15146197;15038610;12805207;12477932;11825528;11445257;11436125;9894876;9727038;9405249;8889549;8889548;8584231;8268217;8240324;8076640;3753002;3571202;2365294;1943690;17220478;19615732;20379614;17207965;20877624;15466852;22939629;16196087;19287380;21139048;21906983;23475850;22235656;21890473;23000965;23144319;22632162;22797925;22952844 1743 B7Z5W8;B7Z6J1;B7ZAZ8;G3V3F0;G3V498;G3V5L9;G3V5M3;H0YJF9;P36957;Q86SW4 AA101667;ABBA01030712;AC006530;AI087261;AK289414;AK299505;AK300396;AK316463;AL538322;AMYH01005857;AU133381;BC000302;BC001922;BC002735;BM682697;BM928746;BM929953;BU623022;BX248276;BX248764;BX248774;CH471061;CN422511;CR456727;CX163292;D16373;D17297;D26535;DA995927;DC338747;L37418;NG_030313;NM_001244883;NM_001933;NR_033814;NR_045209 AAB59629;AAD30181;AAH00302;AAH01922;ADQ32761;BAA03871;BAA04130;BAA05536;BAF82103;BAH13054;BAH13277;BAH14834;CAD62604;CAD66571;CAD66581;CAG33008;EAW81199;EAW81200;EAW81201;EAW81202;NP_001231812;NP_001924;P36957 Hs.525459 1767457;1792750;1792752;1792754;1792756;2116386;2118960;2189357;5091119 G10732;MARC_2710-2711:991933212:3;PMC162151P1;PMC162151P2;PMC162151P3;PMC162151P4;RH17385;RH70222;SHGC-37068 DLTS 2-oxoglutarate dehydrogenase complex component E2;E2K;OGDC-E2;OTTHUMP00000246155;OTTHUMP00000246160;dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex;dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial APPROVED protein-coding ENSG00000119689 2911 00520 126063 REVIEWED 1317940 DMBX1 diencephalon/mesencephalon homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p33 45260058 45267288 + 46745255 46752485 + 46972668 46979898 + 1580863;6480464 17990594;16710414;12142024;12055180;15890343;23314748 127343 Q8NFW5 AB037699;ABBA01050837;AF398527;AF398528;AL137797;AMYH01000588;AY726596;CH471059;NM_147192;NM_172225 AAI56065;AAI56882;AAM90589;AAM90590;BAC00920;EAX06907;NP_671725;NP_757379;Q8NFW5 Hs.375623 5022450;5109281 D10S275;D1S1425 MBX;OTX3;PAXB OTTHUMP00000009672;OTTHUMP00000009673;diencephalon/mesencephalon homeobox protein 1;homeoprotein MBX;orthodenticle homolog 3;paired-like homeobox protein DMBX1;paired-like homeobox protein DMBX1-like APPROVED protein-coding ENSG00000197587 19026 07593 607410 REVIEWED 1312567 DLX3 distal-less homeobox 3 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008] 17 17 q21 45422368 45427587 - 48067369 48072588 - 1580863;6480464;7240710 22113468;9467018;19453261;19282665;18978678;18492670;18362318;18203197;17611665;17559453;16687405;16467978;16303743;16301156;16247549;16187309;15666299;15489334;15454107;14670999;12878157;12477932;11792834;11773066;11343707;11113121;8975708;21520071;8889548;7613049;21268066;19608154;20542333;20151948;21252474;21988832;21802725 1747 F8VXG1;O60479 AA604314;ABBA01041222;AC009720;AF028233;AF452638;AK075167;AK313257;AMYH01008470;BC012361;BC028970;BM982262;CB990401;CH471109;CQ783858;NG_023063;NM_005220 AAC14397;AAH12361;AAH28970;AAL99504;ABM83151;ABM86351;BAG36067;BAG52078;CAF86895;EAW94650;NP_005211;O60479 Hs.134194 1795140;1797480;2139250 AF028234;DLX3_2079;PMC99823P1 AI4;TDO OTTHUMP00000220808;distal-less homeo box 3;homeobox protein DLX-3 APPROVED protein-coding ENSG00000064195 2916 02752 104510;190320;600525 REVIEWED 733723 DLX5 distal-less homeobox 5 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008] 7 7 q22 96487638 96492079 - 96649702 96654143 - 1580863;6480464;7240710 7907794;18029348;19453261;18413826;18316591;17701895;17363207;16582099;16467978;16344560;15954098;15489334;14702039;12853948;12782124;12690205;12477932;12145306;11959851;11675124;11084035;10516593;10451362;9111364;8889549;7987313;20634891;20808887;19195802;19497851;21045156;21205918;21108812;23169702;11168022;22342398;22121204;22332551;21890473;23193016 1749 P56178;Q53Y73 AA129308;AACC02000013;ABBA01045755;AC004774;AK023493;AK297614;AMYH01017706;BC006226;BT006903;CH236949;CH471091;DB280023;NG_009220;NM_005221 AAC17833;AAH06226;AAP35549;BAB14587;BAH12629;EAL24121;EAW76741;NP_005212;P56178 Hs.99348 1768123;1791268;1797482;5017919;5127682;7188533 D7S527;DLX5_2316;DLX6;Dlx5;MARC_9717-9718:996688547:1;RH69322 SHFM1D OTTHUMP00000205292;distal-less homeo box 5;homeobox protein DLX-5;split hand/foot malformation type 1 with sensorineural hearing loss APPROVED protein-coding ENSG00000105880 2918 02492 220600;600028 REVIEWED 6481392 DMD-AS1 DMD antisense RNA 1 100873925 AC006061;AC078958;AC079143 APPROVED miscrna 42629 6481382 DMD-AS3 DMD antisense RNA 3 100873916 AL096699 APPROVED miscrna 40185 3029858 DLX6-AS1 DLX6 antisense RNA 1 7 7 7 q21.3 91291737 91337304 - 96470895 96471540 - 96597827 96643377 - 12477932;12690205;14702039;16705037 285987 AACC02000013;ABBA01045755;ABBA01045756;ABBA01045757;ABBA01045758;AC004774;AK055423;AK091367;AK095619;AK095764;AMYH01017706;BC101445;BC101446;BC101447;BC101985;BC113049;BE263812;CH236949;NR_015448 EAL24123 Hs.34969 1674069;1681568;1854845;2164475;2164477;2165065;2187080;5493573 A004Q32;A005M09;D7S2918;G20327;RH47418;RH91820;UniSTS:487300;WI-21635 DLX6-AS;DLX6AS;Evf-2;FLJ34048;NCRNA00212 APPROVED miscrna 37151 VALIDATED 6481385 DMD-AS2 DMD antisense RNA 2 100873915 AC078958;AC090632 APPROVED miscrna 40184 1347834 DLX6 distal-less homeobox 6 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008] 7 7 7 q22 91329217 91334279 + 96473226 96478288 + 96635290 96640352 + 1580863;6480464 7907794;19453261;17701895;15489334;14702039;12853948;12707945;12477932;12193642;11711438;8733122;20634891;20808887;19195802;8012384;21108812;22939624;23169702;22342398 1750 G3V471;P56179 AACC02000013;ABBA01045755;ABBA01045756;ABBA01045757;AC004774;AK094086;AMYH01017706;BC069363;BC103688;BC103689;BC103690;BC109381;BU616500;CH236949;CH471091;NM_005222;Z58433 AAC17832;AAH69363;AAI03689;AAI03690;AAI03691;AAI09382;BAG52812;EAL24122;EAW76744;NP_005213;P56179 Hs.249196 1674069;1681568;2164475;2164477 A005M09;D7S2918;G20327;RH91820 MGC125282;MGC125283;MGC125284;MGC125285 OTTHUMP00000205294;distal-less homeo box 6;homeobox protein DLX-6 APPROVED protein-coding ENSG00000006377 2919 02493 600030 REVIEWED 735357 DMBT1 deleted in malignant brain tumors 1 Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. The gene DMBT1 was originally isolated based on its deletion in a medulloblastoma cell line. DMBT1 is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor supressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Jul 2008] 10 10 q26.13 124310171 124393242 + 124320181 124403252 + 1599778;1599780;1599782;1580863;6480464 9288095;17102098;12419858 20824812;10485905;12681477;14676191;14732920;19207948;19189310;18849643;18713006;18641344;18452511;18020944;17983803;17908325;17709527;17548659;17243023;17066405;16796526;16790779;16740002;16190864;16042587;15866713;15760920;15754018;15731026;15564322;15355985;15301691;15242536;15228387;15218048;15164054;15101998;14603438;12871854;12672033;12477932;12368192;12353266;12239452;12203780;12185598;12168116;12050164;12015815;11912156;11829014;11751412;11563989;11550206;11007786;10597221;10551316;10101009;9888459;9153228;7784070;12689412;21167898;16385451;19465482;19553331;19830809;21145461;20418254;21167560;21920605;21139048;21999583;22296301;22211283;21252943;22069308;22112028;21956756;22805772 1755 F8WEF7;Q9Y4V9 AB020851;AB209691;ABBA01062840;ABBA01062841;ABBA01062842;ABBA01062843;ABBA01062844;ABBA01140961;AF159456;AJ000342;AJ243211;AJ243212;AJ243224;AJ297935;AK304128;AK304149;AL603764;AMYH01003135;AMYH01003136;AMYH01003137;AMYH01003138;AMYH01003139;AMYH01003140;AMYH01003141;AMYH01003142;BC153299;BX640988;CH471066;FJ234410;NG_012644;NM_004406;NM_007329;NM_017579 AAD49696;AAI53300;ACI95281;BAA78577;BAD92928;BAG65024;BAH14118;CAA04019;CAB56155;CAB63941;CAB63942;CAC44122;CAE45995;EAW49308;EAW49309;EAW49310;EAW49311;NP_004397;NP_015568;NP_060049;Q9UGM3 Hs.279611 1791570 PMC115222P1 FLJ61058;GP340;MGC164738;muclin OTTHUMP00000020654;OTTHUMP00000020655;OTTHUMP00000020656;OTTHUMP00000020657;OTTHUMP00000020658;OTTHUMP00000020659;OTTHUMP00000020660;OTTHUMP00000020661;OTTHUMP00000020662;OTTHUMP00000020663;SAG;deleted in malignant brain tumors 1 protein;glycoprotein 340;gp-340;hensin;salivary agglutinin;surfactant pulmonary-associated D-binding protein APPROVED protein-coding ENSG00000187908 2926 03575 601969 REVIEWED 1316904 DMC1 DNA meiotic recombinase 1 This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 22 22 q13.1 37244900 37296135 - 38914954 38966189 - 1580863;6480464 8602360;8590282;18029348;19076215;19004837;18566005;18535008;18355319;18166824;17639081;17541404;15917244;15917243;15489334;15461802;15164066;15125839;14764457;12477932;10591208;10562567;9826763;11005857;19714462;16415210;20378615;20600108;21151113;21307306;22156371;10737800;16341674;21903585;23182424;23265958;23545642 11144 B0QYE0;B0QYE1;B4DMW6;Q14565 ABBA01055520;ABBA01055521;ABBA01055522;ABBA01055523;ABBA01055524;ABBA01055525;ABBA01055526;ABBA01055527;AK292617;AK297664;AL022320;AMYH01012764;AY520538;BC035658;BC125163;BC125164;BG959880;BM545092;BM843634;CH471095;CR456486;D63882;D64108;DB517711;EL953686;NG_017203;NM_001278208;NM_007068;NR_103474 AAH35658;AAI25164;AAI25165;AAR89915;BAA09932;BAA10970;BAF85306;BAG60028;CAG30372;CAK54477;CAK54776;EAW60249;NP_001265137;NP_008999;Q14565 Hs.339396 1857316;5022322;5037552;7184822 AL021666;D11S2560;D22S451;D8S2279 DMC1H;HsLim15;LIM15;MGC150472;MGC150473;dJ199H16.1 DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination;DMC1 homologue;OTTHUMP00000199098;OTTHUMP00000199222;disrupted meiotic cDNA1, yeast, homolog of;meiotic recombination protein DMC1/LIM15 homolog APPROVED protein-coding ENSG00000100206 2927 04099 602721 REVIEWED 736576 DMP1 dentin matrix acidic phosphoprotein 1 Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 4 4 q21 88790483 88804534 + 88571454 88585513 + 1580863;6480464;7240710 11856645;8509401;19453261;19007919;18819913;18757373;18660670;18214537;18037646;17936562;17434448;17136477;17033625;17033621;16679514;16421105;16357164;16294270;15954904;15728181;15329369;15108359;15001995;14578349;12929940;12615915;12477932;11825898;10775676;10757113;9177774;8889549;8586437;19679205;19796717;20201926;19913121;20628086;20213538;21062982;20499351;21190990;21299946;21050253;23559304;21642437;18029348;21963094;22093791;22152625;22552299;23064961;22695891 1758 Q13316 ABBA01063537;AC093895;AI371158;AMYH01014380;AMYH01014381;BC130581;BC132865;CH471057;H89203;NG_008988;NM_001079911;NM_004407;U34037;U65378;U89012 AAA97602;AAB87728;AAC51332;AAI30582;AAI32866;ADR83044;EAX05996;EAX05997;NP_001073380;NP_004398;Q13316 Hs.652366 1667886;2135849;2156200 G34172;SHGC-25118;SHGC-67403 ARHP;ARHR;DMP-1 OTTHUMP00000161172;OTTHUMP00000218558;dentin matrix acidic phosphoprotein 1;dentin matrix protein 1 APPROVED protein-coding ENSG00000152592 2932 02989 241520;600980 REVIEWED 1322676 DMAP1 DNA methyltransferase 1 associated protein 1 This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 1 1 p34 44451712 44458938 + 44679125 44686351 + 1580863;6480464 16387653;17643375;15033475;10888872;14966270;17081983;16964243;16710414;16381901;16341674;15647280;15489336;15489334;15367675;15345747;15196461;14978102;14734556;14702039;14665632;12963728;12477932;11913976;11230166;11076863;10718198;16712791;20920467;20864525;19845771;22939629;19454010;17371848;17573780;20946988;19156129;21284050;21139048;21549307;21693764;22467210 55929 Q5TG36;Q5TG37;Q5TG38;Q5TG39;Q5TG40;Q9NPF5 AB037846;ABBA01050929;AF265228;AK021605;AK054954;AK092898;AK096252;AK289366;AK293598;AK298793;AK300217;AK300372;AK300442;AL035417;AL136657;AL137200;AMYH01000566;BC002855;BC008053;BM827551;BU616029;BX537895;CA842195;CB123593;CH471059;NM_001034023;NM_001034024;NM_019100 AAF87079;AAH02855;AAH08053;ABM84100;ABM87472;BAA92663;BAB13854;BAF82055;BAG57063;BAG60930;BAG61985;BAG62108;BAG62165;CAB66592;CAB69910;CAD97886;CAL38490;EAX07046;EAX07047;EAX07048;EAX07049;EAX07050;EAX07051;NP_001029195;NP_001029196;NP_061973;Q9NPF5 Hs.8008 1732794;5022651;5106795 D11S2921;D1S1251;STS-AA040569 DKFZp686L09142;DNMAP1;DNMTAP1;EAF2;FLJ11543;KIAA1425;MEAF2;SWC4 DNA methyltransferase 1-associated protein 1;DNMT1 associated protein 1;DNMT1-associated protein 1;OTTHUMP00000008845;OTTHUMP00000008846;OTTHUMP00000008847;OTTHUMP00000008891 APPROVED protein-coding ENSG00000178028 18291 05465 605077 REVIEWED 1605012 DMKN dermokine This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] 19 19 19 q13.12 32701640 32718078 - 40679962 40696394 - 35988119 36004560 - 6480464 17380110;16374476;15234001;14702039;12975309;12477932;11441184;15342556;17207965;21832049;23060565;21423773;19322201;22735594 93099 A3EZ84;C9IYI1;C9J186;C9J3V3;C9JCN1;E7EMS7;E7EUS0;E9PAQ7;H7BZ95;H7C145;M0QZU6;M0QZV2;M0R0A5;M0R0W2;M0R1M0;M0R265;M0R3F8;Q6E0U5;R4GMQ0;R4GMT6 ABBA01018746;AC138125;AD001502;AF086315;AI914430;AK096215;AK125695;AK304668;AK316475;AL832080;AMYH01009728;AY358412;AY622964;AY622965;AY789695;AY789696;AY789697;AY789698;AY789699;AY789700;AY789701;AY789702;AY789703;AY789704;AY789705;AY789706;AY789707;BC004493;BC011886;BC035311;BP326188;EF158319;EF158320;EF158321;EF158322;EF158323;EF158324;EF158325;EF158326;NM_001035516;NM_001126056;NM_001126057;NM_001126058;NM_001126059;NM_001190347;NM_001190348;NM_001190349;NM_033317;NR_033746 AAH04493;AAH11886;AAH35311;AAQ88778;AAT68268;AAT68269;AAX48745;AAX48746;AAX48747;AAX48748;AAX48749;AAX48750;AAX48751;AAX48752;AAX48753;AAX48754;AAX48755;AAX48756;AAX48757;ABN11271;ABN11272;ABN11273;ABN11274;ABN11275;ABN11276;ABN11277;ABN11278;ADQ31917;BAG65443;BAH14846;NP_001030593;NP_001119528;NP_001119529;NP_001119530;NP_001119531;NP_001177276;NP_001177277;NP_001177278;NP_201574;Q6E0U4 Hs.417795 5016596 GDB:631802 FLJ79374;FLJ79374,;UNQ729;ZD52F10 OTTHUMP00000045773;OTTHUMP00000207839;OTTHUMP00000207840;OTTHUMP00000207841;OTTHUMP00000207842;OTTHUMP00000207843;OTTHUMP00000207844;OTTHUMP00000207845;OTTHUMP00000207891;OTTHUMP00000207892;OTTHUMP00000207894;OTTHUMP00000208003;OTTHUMP00000208004;OTTHUMP00000208006;dermokine;epidermis-specific secreted protein SK30/SK89 APPROVED protein-coding ENSG00000161249 25063 12387 REVIEWED 731431 DMGDH dimethylglycine dehydrogenase This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 q14.1 78329185 78401205 - 78293429 78365449 - 1580863;1547831;6480464;6907045;7240710;7242560 15358367;20645850 11231903;10767172;19048631;18937046;14702039;12477932;10102904;20877624;19913121;20628086;20634891;20662904;23378610;12107410;15342556;18614015 29958 B3KQ84;B4E1J9;E5RG50;E5RGI4;E5RK15;F8W6P8;Q8TCC6;Q9UI17 AA676742;ABBA01062002;AC008502;AC020937;AF111858;AI302996;AI469206;AK057641;AK300894;AK303873;AK314736;AMYH01015437;BC022388;BP276968;BP425307;CA397896;CH471084;NG_012164;NM_013391;NR_104002;NR_104003 AAF21941;AAH22388;AAI56313;AAI72462;BAG37277;BAG51946;BAG62533;BAG64811;EAW95824;EAW95825;NP_037523;Q9UI17 Hs.655653 1757241;1797484;2143728;2161862;5094967 DMGDH;DMGDH_2468;RH11573;RH36395;SHGC-144662 DMGDHD;ME2GLYDH OTTHUMP00000135299;OTTHUMP00000222815;dimethylglycine dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000132837 24475 05789 605849;605850 REVIEWED 736976 DMD dystrophin The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008] X X p21.2 31047266 33267647 - 31137345 33357726 - 1580858;1580859;6480464;5148023;6771363;6771365;6907045;7240710 12359139;3055295;20886625;22338606;20373002 12833401;1307251;18652600;18646563;18639760;18589007;18583217;18570328;18445268;18353051;18261477;18253029;18160999;18083704;18059005;18054699;18039686;18031759;18029348;17997718;17993586;17981813;17826093;17767400;17680544;17579806;17503325;17487865;17487735;17428346;17385798;17314512;17285139;17166095;17150596;17145200;16936400;16917894;16891620;16883579;16883524;16824516;16807118;16716778;16710609;16569668;16496225;16461336;16439510;16380627;16344560;16331671;16295426;16286249;16286242;16276108;16246949;16133659;16094384;15772651;15723292;15655674;15643612;15637982;15528988;15024025;14659407;14652441;14636778;14600269;14559354;14556187;14514278;14513410;12920092;12376554;7545544;16000376;16777071;3282674;3287171;1824797;10867799;8282811;19409785;19379759;19230662;19206170;19194174;19173203;19158079;19084397;19074751;19040728;19012301;19009915;18974567;18971620;18957722;18957474;18935728;18853462;18799475;18752307;18653336;12757471;12754707;12754415;12659812;12655282;12632325;12606026;12596052;12522557;12480947;12477932;12398834;12389738;12376747;12370193;12354438;12206800;12189167;12140183;12107815;12062429;12031623;11997265;11922612;11917091;11882782;11861579;11796130;11795488;11741599;11726549;11717465;11571312;11430802;11381192;11352924;11259305;11076863;11039581;10932245;10801490;10767429;10747910;10573008;10545507;10355629;10227401;9851445;9813236;9701558;9683584;9461390;9419360;9410897;9395493;9356463;9339369;9170407;9119397;8950674;8817332;8789442;8576247;8566960;8541829;8518789;8513330;8499922;8401582;8401537;8387534;8361506;8358174;8322822;8314593;8301652;8279470;8277968;8199594;8160755;8123157;8083345;8078878;8045556;7981690;7981590;7951253;7890770;7890602;7881286;7849724;7844150;7825571;7795584;7649554;7633443;7581396;3955860;3773991;3659917;3607877;3428261;3346018;3205741;2909892;2825128;2677830;2668885;2648158;2569720;2407739;2406613;2403634;2261642;2176467;2071150;1996328;1918370;1889805;1757094;1632439;1601417;1549596;1544421;1513469;1505985;1483053;1383546;1380160;1377655;1319059;1307253;9412493;22379338;18468998;22105192;22275054;22453924;17267499;20889312;21305657;20399196;19913121;20485447;20516809;20628086;20646909;20847377;20696926;20381484;20936779;16524176;19001018;19109891;19158820;19449031;19602481;19609279;19687056;19783145;19793655;19907931;19927354;19937601;19959795;20019182;20031633;20098710;7592992;20625423;20434517;20630757;15149856;16803572;22538063;21151598;21515508;21164104;21212803;21396098;21402533;21109441;22937058;22876130;22894145;21523654;21712383;22006698;20811636;22987438;21507246;21851881;22616200;17620599;23199925;23395799;16935300;17043677;21139048;21890473;21906983;21972111;22090376;22234188;22234189;21854195;22041458;21624465;20301298;21399986;22425969;22455600;22750404;19945424;19027585;19198614;21832049;22939629;23028937;15174051;21963094;21988832;22092019;23000965;22505724 1756 A1L0U9;A7E212;B4DSV7;E7EQR9;E7EQS5;E7ESB2;E9PDN5;F5GZY3;F8VX32;H0Y304;H0Y3E8;H0Y864;H0Y8D5;Q14172;Q14174;Q16484;Q4G0X0;Q8N754 AB037493;AB208836;ABBA01073015;ABBA01073016;ABBA01073017;ABBA01073018;ABBA01073019;ABBA01073020;ABBA01073021;ABBA01073022;ABBA01073023;ABBA01073024;ABBA01073025;ABBA01073026;ABBA01073027;ABBA01073028;ABBA01073029;ABBA01073030;ABBA01073031;ABBA01073032;ABBA01073033;ABBA01073034;ABBA01073035;ABBA01073036;ABBA01073037;ABBA01073038;ABBA01073039;ABBA01073040;ABBA01073041;ABBA01073042;ABBA01073043;ABBA01073044;ABBA01073045;ABBA01073046;ABBA01073047;ABBA01073048;ABBA01073049;ABBA01073050;ABBA01073051;ABBA01073052;ABBA01073053;ABBA01073054;ABBA01073055;ABBA01073056;ABBA01073057;ABBA01073058;ABBA01073059;ABBA01073060;ABBA01073061;ABBA01073062;ABBA01073063;ABBA01073064;ABBA01073065;ABBA01073066;ABBA01073067;ABBA01073068;ABBA01073069;ABBA01073070;ABBA01073071;ABBA01073072;ABBA01073073;ABBA01073074;ABBA01073075;ABBA01073076;ABBA01073077;ABBA01073078;ABBA01073079;ABBA01073080;ABBA01073081;ABBA01073082;ABBA01073083;ABBA01073084;ABBA01073085;ABBA01073086;ABBA01073087;ABBA01073088;ABBA01073089;ABBA01073090;ABBA01073091;ABBA01073092;ABBA01073093;ABBA01073094;ABBA01073095;ABBA01073096;ABBA01073097;ABBA01073098;ABBA01073099;ABBA01073100;ABBA01073101;ABBA01073102;ABBA01073103;ABBA01073104;ABBA01073105;ABBA01073106;ABBA01073107;ABBA01073108;ABBA01073109;ABBA01073110;ABBA01073111;ABBA01073112;ABBA01073113;ABBA01073114;ABBA01073115;ABBA01073116;ABBA01073117;ABBA01073118;ABBA01073119;ABBA01073120;ABBA01073121;ABBA01073122;ABBA01073123;ABBA01073124;ABBA01073125;ABBA01073126;ABBA01073127;ABBA01073128;ABBA01073129;ABBA01073130;ABBA01073131;ABBA01073132;ABBA01073133;ABBA01073134;ABBA01073135;ABBA01073136;ABBA01073137;ABBA01073138;ABBA01073139;ABBA01073140;ABBA01073141;ABBA01073142;ABBA01073143;ABBA01073144;ABBA01073145;ABBA01073146;ABBA01073147;ABBA01073148;ABBA01073149;ABBA01073150;ABBA01073151;ABBA01073152;ABBA01073153;ABBA01073154;ABBA01073155;ABBA01073156;ABBA01073157;ABBA01073158;ABBA01073159;ABBA01073160;ABBA01073161;ABBA01073162;ABBA01073163;ABBA01073164;ABBA01073165;ABBA01073166;ABBA01073167;ABBA01073168;ABBA01073169;ABBA01073170;ABBA01073171;ABBA01073172;ABBA01073173;ABBA01073174;ABBA01073175;ABBA01073176;ABBA01073177;ABBA01073178;ABBA01073179;ABBA01073180;ABBA01073181;ABBA01073182;ABBA01073183;ABBA01073184;ABBA01073185;ABBA01073186;ABBA01073187;ABBA01073188;ABBA01073189;ABBA01073190;ABBA01073191;ABBA01073192;ABBA01073193;ABBA01073194;ABBA01073195;ABBA01073196;ABBA01073197;ABBA01073198;ABBA01073199;ABBA01073200;ABBA01073201;ABBA01073202;ABBA01073203;ABBA01073204;ABBA01073205;ABBA01073206;ABBA01073207;ABBA01073208;ABBA01073209;ABBA01073210;ABBA01073211;ABBA01073212;ABBA01073213;ABBA01073214;ABBA01073215;ABBA01073216;ABBA01073217;ABBA01073218;ABBA01073219;ABBA01073220;ABBA01073221;ABBA01073222;ABBA01073223;ABBA01073224;ABBA01073225;ABBA01073226;ABBA01073227;ABBA01073228;ABBA01073229;ABBA01073230;ABBA01073231;ABBA01073232;ABBA01073233;ABBA01073234;ABBA01073235;ABBA01073236;ABBA01073237;ABBA01073238;ABBA01073239;ABBA01073240;ABBA01073241;ABBA01073242;ABBA01073243;ABBA01073244;ABBA01073245;ABBA01073246;ABBA01073247;ABBA01073248;ABBA01073249;ABBA01073250;ABBA01073251;ABBA01073252;ABBA01073253;ABBA01073254;ABBA01073255;ABBA01073256;ABBA01073257;ABBA01073258;ABBA01073259;ABBA01073260;ABBA01073261;ABBA01073262;ABBA01073263;ABBA01073264;AC004468;AC006061;AC078957;AC078958;AC079143;AC079175;AC079177;AC079864;AC090632;AC093167;AC093193;AC096506;AF047502;AF047505;AF213402;AF213403;AF213404;AF213405;AF213406;AF213407;AF213408;AF213409;AF213410;AF213411;AF213412;AF213413;AF213414;AF213415;AF213416;AF213417;AF213418;AF213419;AF213420;AF213421;AF213422;AF213423;AF213424;AF213425;AF213426;AF213427;AF213428;AF213429;AF213430;AF213431;AF213433;AF213434;AF213435;AF213436;AF213437;AF213438;AF213439;AF213440;AF213441;AF213442;AF213443;AF213444;AJ271220;AK129855;AK299936;AK309142;AL031542;AL031643;AL049643;AL050305;AL096699;AL109609;AL121880;AL139278;AL139401;AL451144;AL596023;AMYH01022195;AMYH01022196;AMYH01022197;AMYH01022198;AMYH01022199;AMYH01022200;AMYH01022201;BC009242;BC010932;BC028720;BC036103;BC070078;BC094758;BC127103;BC150141;CH471074;D32048;DA804849;DB233002;L01538;L05642;L05646;L05649;L35854;M18533;M23261;M32058;M63072;M63073;M63074;M63075;M81257;M86903;M92650;NG_012232;NM_000109;NM_004006;NM_004007;NM_004009;NM_004010;NM_004011;NM_004012;NM_004013;NM_004014;NM_004015;NM_004016;NM_004017;NM_004018;NM_004019;NM_004020;NM_004021;NM_004022;NM_004023;S38776;S42206;S42212;S60970;S60971;S60972;S60973;S62617;S64152;S81419;U27203;U60822;U90310;U94396;X06178;X06179;X06293;X13045;X13046;X13047;X13048;X14298;X15148;X15149;X15495;X54820 AAA35779;AAA52309;AAA52312;AAA52313;AAA52314;AAA52315;AAA52316;AAA52330;AAA53189;AAA74506;AAA74507;AAA74508;AAA86115;AAA86116;AAB22395;AAB27159;AAB53001;AAC51631;AAD03808;AAD03809;AAD13820;AAD13821;AAD14363;AAH09242;AAH28720;AAH36103;AAH70078;AAH94758;AAI11588;AAI11837;AAI11935;AAI18003;AAI27104;AAI50142;AAL61550;AAL61551;AAL61552;AAL61553;AAL61554;AAL61555;AAL61556;AAL61557;AAL61558;AAL61559;AAL61560;AAL61561;AAL61562;AAL61563;AAL61564;AAL61565;AAL61566;AAL61567;AAL61568;AAL61569;AAL61570;AAL61571;AAL61572;AAL61573;AAL61574;AAL61575;AAL61576;AAL61577;AAL61578;AAL61579;AAL61580;AAL61581;AAL61582;AAL61583;AAL61584;AAL61585;AAL61586;AAL61587;AAL61588;AAL61589;AAL65098;AAL65099;AAL65100;BAA90413;BAD92073;BAG61769;CAA29544;CAA29545;CAA31451;CAA31452;CAA31453;CAA31454;CAA32479;CAA33245;CAA33246;CAA33518;CAA38589;CAD30261;CAE82077;EAW99061;EAW99062;EAW99063;EAW99064;EAW99065;EAW99066;NP_000100;NP_003997;NP_003998;NP_004000;NP_004001;NP_004002;NP_004003;NP_004004;NP_004005;NP_004006;NP_004007;NP_004008;NP_004009;NP_004010;NP_004011;NP_004012;NP_004013;NP_004014;P11532 Hs.495912 1334802;1336150;1338600;1341795;1342162;1647199;1648748;1677905;1678029;1683186;1696244;1700194;1701722;1701762;1701930;1701954;1701990;1702014;1702094;1702516;1702728;1703012;1703146;1703156;1712847;1720545;1720913;1729421;1729435;1729440;1729764;1729766;1729768;1729770;1733204;1740565;1741301;1741539;1741973;1741975;1742031;1742033;1742035;1742037;1742983;1744239;1751583;1751673;1752417;1755479;1758993;1759133;1761161;1767639;1767878;1769746;1771192;1774848;1787202;1791386;1792442;1794526;1851248;1852390;1857016;2114432;2125615;2126391;2127657;2132524;2135206;2136817;2138635;2138661;2138981;2139065;2139513;2140735;2153214;2157434;2158608;2161943;2163742;2166805;2171550;2173899;2182854;2218494;5020441;7183434;7183735;7183736;7183737;7183739;7183742;7183743;7183744;7183746;7183747;7183751;7183972;7183973;7184607;7184756;7186721;7187890;7187957 A002S20;AF020105;AF020114;AF020115;AF020142;AF020158;AFM072zh3;AL023928;BCD1481;D15S1130;DMD;DMD__4749;DXS1036;DXS1067;DXS1214;DXS1234;DXS1235;DXS1236;DXS1237;DXS1238;DXS1241;DXS1242;DXS1243;DXS1311;DXS1411;DXS1417;DXS142;DXS1457;DXS1513;DXS269;DXS503;DXS6833;DXS6973E;DXS6988E;DXS7029E;DXS7499;DXS7526;DXS7605;DXS7630;DXS7826;DXS7840;DXS8219;DXS8358;DXS9709;DXS9746;DXS9907;DXS997;G15848;G59226;G59286;GDB:170312;GDB:180368;GDB:181436;GDB:187368;GDB:187385;GDB:187386;GDB:189991;GDB:189992;GDB:189993;GDB:189994;GDB:226826;GDB:438332;L48020;L77299;L77301;L77318;L77320;L77753;PMC108984P1;PMC151133P1;PMC316713P2;RH103712;RH120140;RH71402;RH80233;RH92485;RH92487;SHGC-101395;SHGC-105582;SHGC-105683;SHGC-106311;SHGC-11932;SHGC-142343;SHGC-145172;SHGC-150573;SHGC-1509;SHGC-33740;SHGC-83612;WI-10707 BMD;CMD3B;DXS142;DXS164;DXS206;DXS230;DXS239;DXS268;DXS269;DXS270;DXS272 OTTHUMP00000023117;OTTHUMP00000023121;OTTHUMP00000023124;OTTHUMP00000023125;OTTHUMP00000023126;OTTHUMP00000215590;OTTHUMP00000215591;OTTHUMP00000215592;OTTHUMP00000215846;dystrophin;dystrophin (muscular dystrophy, Duchenne and Becker types) APPROVED protein-coding ENSG00000198947 2928 02303 300376;300377;302045;310200 REVIEWED 1320371 DMPK dystrophia myotonica-protein kinase The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.3 50964815 50977655 - 46272975 46285815 - 1580863;1600900;6480464;7240710 8595416 10913253;15598648;1310900;19309729;19166838;19127114;18798829;18648326;18611984;18577525;18574937;18474935;18228241;18184345;18029348;17846170;17825047;17433680;17204048;17192963;16946708;16636244;16519679;16285929;16193250;16099181;15981568;15894391;15824798;15722335;15583383;15476170;15462191;15317754;15284213;15210527;15079005;15039975;15017064;14759258;14701736;14657503;14607980;14510658;12832055;12697816;12600888;12598332;12477932;12427866;12220642;11931630;11903304;11903110;11793472;11781699;11768387;11768386;11766468;11752456;11748308;11592825;11555624;11527424;11287000;11121205;10869570;10811636;10601309;10400997;10026240;9949207;9872056;9811941;9490724;9371827;8499920;8469976;8401505;8288237;8281152;8076686;7905855;7488138;2037285;1546326;1546325;1303233;1302022;10625651;19913121;20628086;20801043;20635151;16169070;16713569;19514047;19626675;19946639;19948975;20228473;20231114;20421627;20346670;20685272;20644219;20843780;20301344;21204525;21760538;15684391;18729234;21900206;21949239;22318606;21963094;21988832;22939624;23209425;21906983;22354993 1760 E5KR05;E5KR06;E5KR07;E5KR08;F5H3R7;K7EQX1;M0QXJ9;M0QZ00;M0R1F3;M0R333;Q09013 AB209363;ABBA01040952;AC011530;AC074212;AK297299;AK302874;AK304749;AMYH01009855;AV655848;BC026328;BC062553;BG706056;CH471126;HQ205626;HQ205627;HQ205628;HQ205629;HQ205630;HQ205631;HQ205632;HQ205633;HQ205634;HQ205635;HQ205636;HQ205637;HQ205638;HQ205639;HQ205640;HQ205641;HQ205642;HQ205643;HQ205644;HQ205645;HQ205646;HQ205647;HQ205648;HQ205649;HQ205650;HQ205651;HQ205652;HQ205653;HQ205654;HQ205655;HQ205656;HQ205657;HQ205658;HQ205659;HQ205660;HQ205661;HQ205662;HQ205663;HQ205664;HQ205665;L00727;L08835;L19266;L19268;M87312;M94203;NG_009784;NM_001081560;NM_001081562;NM_001081563;NM_004409;S72883;S86455;U46546 AAA36205;AAA36206;AAA64884;AAA75235;AAA75236;AAA75237;AAA75238;AAA75239;AAA75240;AAA87583;AAB31800;AAC14448;AAC14449;AAC14450;AAC14451;AAH26328;AAH62553;ADP91334;ADP91335;ADP91336;ADP91337;ADP91338;ADP91339;ADP91340;ADP91341;ADP91342;ADP91343;ADP91344;ADP91345;ADP91346;ADP91347;ADP91348;ADP91349;ADP91350;ADP91351;ADP91352;ADP91353;ADP91354;ADP91355;ADP91356;ADP91357;ADP91358;ADP91359;ADP91360;ADP91361;ADP91362;ADP91363;ADP91364;ADP91365;ADP91366;ADP91367;ADP91368;ADP91369;ADP91370;ADP91371;ADP91372;ADP91373;ADP91374;ADP91375;ADP91376;ADP91377;ADP91378;ADP91379;ADP91380;ADP91381;ADP91382;ADP91383;ADP91384;ADP91385;ADP91386;ADP91387;ADP91388;ADP91389;ADP91390;ADP91391;ADP91392;ADP91393;ADP91394;ADP91395;ADP91396;ADP91397;ADP91398;ADP91399;ADP91400;ADP91401;ADP91402;ADP91403;ADP91404;ADP91405;ADP91406;ADP91407;ADP91408;ADP91409;ADP91410;ADP91411;ADP91412;ADP91413;ADP91414;ADP91415;ADP91416;ADP91417;ADP91418;ADP91419;ADP91420;ADP91421;ADP91422;ADP91423;ADP91424;ADP91425;ADP91426;ADP91427;ADP91428;ADP91429;ADP91430;ADP91431;ADP91432;ADP91433;ADP91434;ADP91435;ADP91436;ADP91437;ADP91438;ADP91439;ADP91440;ADP91441;ADP91442;ADP91443;ADP91444;ADP91445;ADP91446;ADP91447;ADP91448;ADP91449;ADP91450;ADP91451;ADP91452;ADP91453;ADP91454;ADP91455;ADP91456;ADP91457;ADP91458;ADP91459;ADP91460;ADP91461;ADP91462;ADP91463;ADP91464;ADP91465;ADP91466;ADP91467;ADP91468;ADP91469;ADP91470;ADP91471;ADP91472;ADP91473;ADP91474;ADP91475;ADP91476;ADP91477;ADP91478;ADP91479;ADP91480;ADP91481;ADP91482;ADP91483;ADP91484;ADP91485;ADP91486;ADP91487;ADP91488;ADP91489;ADP91490;ADP91491;ADP91492;ADP91493;BAD92600;BAG59767;BAG64054;BAH14251;EAW57380;EAW57381;EAW57382;EAW57383;EAW57384;EAW57385;NP_001075029;NP_001075031;NP_001075032;NP_004400;Q09013 Hs.631596 1681787;1722405;1729720;1730748;1741875;1741911;1742415;1742417;1745933;1791340;2130939;2132053;2156756;5491365 D19S201;D19S261;Dmpk;G15898;G60275;G64289;GDB:186209;GDB:186796;GDB:196904;GDB:196905;PMC104374P1;RH11440;RH75247;RH78049 DM;DM1;DM1PK;DMK;MDPK;MT-PK DM protein kinase;DM-kinase;DM1 protein kinase;myotonic dystrophy associated protein kinase;myotonic dystrophy protein kinase;myotonin protein kinase A;myotonin-protein kinase;thymopoietin homolog APPROVED protein-coding ENSG00000104936 2933 05645 160900;605377 REVIEWED 1319169 DMRT2 doublesex and mab-3 related transcription factor 2 The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010] 9 9 9 p24.3 968351 975559 + 1040601 1047552 + 1050346 1057554 + 1580863;6480464 10332030;12477932;10857744;10729224;15342556;18821565;19850743;21732829 10655 Q05C20;Q5HYK2;Q9Y5R5 AA771859;ABBA01065449;AF130729;AF284221;AF284222;AF284223;AF284224;AF284225;AK290794;AL358976;AMYH01019183;BC030204;BC136493;BP274385;BX107686;BX647565;CH471071;NG_017051;NM_001130865;NM_006557;NM_181872;Y19052 AAD40475;AAF86289;AAF86290;AAF86291;AAF86292;AAF86293;AAF86294;AAF86295;AAH30204;AAI36494;BAF83483;CAB59891;CAI46061;EAW58816;EAW58817;EAW58818;NP_001124337;NP_006548;NP_870987;Q9Y5R5 Hs.59506 1697120;1735876;2218496 D9S999E;DMRT2__4752;RH102044 DSXL-2;OTTHUMP00000020964;OTTHUMP00000020965;OTTHUMP00000020966;OTTHUMP00000020967;doublesex- and mab-3-related transcription factor 2;doublesex-like 2 protein;terra-like protein APPROVED protein-coding ENSG00000173253 2935 16079 604935 REVIEWED 732173 DMRT1 doublesex and mab-3 related transcription factor 1 This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008] 9 9 p24.3 831690 959090 + 841690 969090 + 1580863;6480464 10332030;16617334;15489334;15164053;12477932;12434333;11329013;11252745;11040213;10999792;10857744;10604464;9490411;21551455;20007774;20379614;20543847;20596660;20211142;21462105;22899867;23555275;21617256;23251661;23377640;20467438;22939835;23303528 1761 H3BN61;Q9Y5R6 ABBA01065450;ABBA01065451;ABBA01065452;AF130728;AJ276801;AK310336;AK313594;AL136365;AL162131;AMYH01019181;AMYH01019182;AY442914;AY442915;BC040847;BG202785;CH471071;NG_009221;NM_021951 AAD40474;AAH40847;AAR89619;AAR89620;ABZ91997;BAG36360;CAB82427;CAB82851;EAW58820;NP_068770;Q9Y5R6 Hs.98586 2108019 DMRT1_8302 DMT1 DM domain expressed in testis 1;DM domain expressed in testis protein 1;OTTHUMP00000020961;doublesex- and mab-3-related transcription factor 1 APPROVED protein-coding ENSG00000137090 2934 03885 602424 REVIEWED 1320325 DMRTA1 DMRT-like family A1 9 9 9 p21.3 22385141 22390773 + 22436840 22442472 + 22446840 22452472 + 6480464 15164053;14702039;12477932;11863363 63951 Q5VZB9 ABBA01065166;AJ290954;AK096011;AK130018;AL161730;AMYH01019276;BC130435;BC130437;CH471071;NM_022160 AAI30436;AAI30438;BAC04672;CAC16590;EAW58591;NP_071443;Q5VZB9 Hs.371976 DMO;DMRT4;MGC163307;MGC163309 OTTHUMP00000021156;doublesex- and mab-3-related transcription factor A1 protein-coding ENSG00000176399 13826 10913 614803 VALIDATED 1343593 DMRTA2 DMRT-like family A2 1 1 1 p32.3 49169119 49175035 - 50655812 50661729 - 50883223 50889119 - 1580863;6480464 11863363;8889548;12477932 63950 Q96SC8 ABBA01074829;AI492131;AJ301580;AL049637;AMYH01000607;AMYH01000608;BC136282;BC143800;BM675521;BQ941189;BU727085;CF242912;NM_032110 AAI36283;AAI43801;CAC37946;NP_115486;Q96SC8 Hs.334481 1742191;2189379 GDB:193196;MARC_3299-3300:991936989:5 OTTHUMP00000212959;OTTHUMP00000212960;doublesex- and mab-3-related transcription factor 5;doublesex- and mab-3-related transcription factor A2 protein-coding ENSG00000142700 13908 614804 VALIDATED 1314434 DMRT3 doublesex and mab-3 related transcription factor 3 9 9 9 p24.3 894871 909644 + 966964 981732 + 976964 991732 + 1580863;6480464 10729223;15489334;15164053;12477932;11863363;11543627;20596660;23377640 58524 Q5W0Z5;Q9NQL9 ABBA01065450;AF193872;AF193873;AF217741;AI052121;AJ301581;AL136365;AMYH01019182;BC113584;BC117245;CH471071;NM_021240 AAF72594;AAF78891;AAF78892;AAI13585;AAI17246;CAC37947;EAW58819;NP_067063;Q9NQL9 Hs.189174;Hs.672740;Hs.744394 2218498 DMRT3__4753 DMRTA3;MGC142144 DMRT-like family A3;OTTHUMP00000020962;doublesex- and mab-3-related transcription factor 3;testis-specific protein protein-coding ENSG00000064218 13909 16827 614754 VALIDATED 1349847 DMRTB1 DMRT-like family B with proline-rich C-terminal, 1 1 1 1 p32.3 52212407 52220492 + 53697660 53705746 + 53925072 53933158 + 1580863;6480464 16713569;16189514;14702039;12477932;11863363;20339536 63948 B4DXR0;Q96MA1 ABBA01074739;AJ291671;AK057273;AK302085;AL365445;AMYH01000628;BC029566;CH471059;HC006928;HC044505;NM_033067 AAH29566;BAB71407;BAG63472;CAC40654;CBH19269;CBH30582;EAX06735;EAX06736;NP_149056;Q96MA1 Hs.131654 1757837;1771704 AL009902;SHGC-146662 OTTHUMP00000009751;doublesex- and mab-3-related transcription factor B1 protein-coding ENSG00000143006 13913 16828 614805 PROVISIONAL 1346508 DMRTC1 DMRT-like family C1 X X X q13.2 72408584 72412347 + 72008584 72012347 - 72091859 72095622 - 6480464 15772651;15489334;12477932;11863363;16712791 63947 G3V190;Q5HYR2 ABBA01046265;AC234776;AJ291670;AL353999;AMYH01022581;AV753283;AW205069;BC029799;BC047596;BI755761;CB121638;CH471213;NM_033053 AAH47596;AAI60151;CAC40653;EAW71829;EAW71830;EAW71831;NP_149042;Q5HYR2 Hs.558685 2186631 RH48872 DMRTC1B OTTHUMP00000023556;OTTHUMP00000023557;OTTHUMP00000023558;doublesex- and mab-3-related transcription factor C1;doublesex-mab-3 protein-coding ENSG00000159123 13910 06491 300878 VALIDATED 2301775 DMRTC1B DMRT-like family C1B X X q13.2 71913703 71985361 + 72064876 72068636 + 6480464 12477932;11863363;15489334;15772651 728656 A6QRF2;G3V190;H0YDN8;Q5HYR2 AC240504;AJ291670;AMYH01022585;BC029799;BC047596;BX293538;BX295541;CH471213;NM_001080851 AAH47596;CAC40653;CAI41255;CAI41256;CAI41258;CAO72055;EAW71832;NP_001074320;Q5HYR2 Hs.558685;Hs.712728 1667361;1697756;1789006;2186631 G65636;RH102401;RH48872;WI-14887 DMRTC1 DMRT-like family C1;OTTHUMP00000023550;OTTHUMP00000023551;OTTHUMP00000023553;OTTHUMP00000195133;OTTHUMP00000236432;doublesex- and mab-3-related transcription factor C1;doublesex-mab-3-like protein-coding ENSG00000184911 31686 VALIDATED 736177 DMTF1 cyclin D binding myb-like transcription factor 1 This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 7 7 q21 86619860 86663584 + 86781677 86825648 + 727758;1580863;6480464 10095122 18598225;18559489;17972942;17936562;17237816;17207965;16344560;15010895;14702039;12917399;12477932;9847074;9110174;8619474;8887674;15231748;20351715;18029348;20398657;22331460;22479309 9988 B3KMJ8;C9J4F7;C9J8Y5;C9JED5;C9JFR2;C9JGT5;C9JLR5;C9JVQ7;C9JZZ6;C9K0K9;C9K0L9;D6W5P0;E7EPA0;F8VXY9;H7C388;J3KRC1;J3QKU5;J3QLN9;J3QLW3;Q9H2Z3 AA258783;AACC02000015;AB209230;ABBA01045869;AC005076;AF052102;AF084530;AF202144;AF202145;AK002073;AK057917;AK095828;AK123259;AK126664;AK295144;AK296211;AK314622;AMYH01017667;BC007418;BC007447;BC029370;BC070064;CH236949;CH471091;DB061156;DB069894;DC339431;EL736930;NG_029536;NM_001142326;NM_001142327;NM_021145;NR_024549;NR_024550 AAC33480;AAD43181;AAG35613;AAG35614;AAH07418;AAH07447;AAH29370;AAH70064;BAD92467;BAG37188;BAG51010;BAG53884;BAG54353;BAG58163;BAG58937;EAW76962;EAW76963;EAW76964;EAW76965;NP_001135798;NP_001135799;NP_066968;Q9Y222 Hs.196129 1654516;1725277;2120670;2126082;2166429 RH118922;RH65726;RH78780;SHGC-64937;STS-T90340 DMP1;DMTF;FLJ25188;FLJ41265;FLJ76054;hDMP1 OTTHUMP00000205130;OTTHUMP00000205131;OTTHUMP00000205239;OTTHUMP00000205282;cyclin D-binding Myb-like protein;cyclin D-binding Myb-like protein 1;cyclin-D-binding Myb-like transcription factor 1;cyclin-D-interacting Myb-like protein 1;hDMTF1 APPROVED protein-coding ENSG00000135164 14603 09770 608491 REVIEWED 1346083 DMWD dystrophia myotonica, WD repeat containing 19 19 19 q13.3 43091314 43101110 - 50978104 50987900 - 46286264 46296060 - 1580863;6480464 10400997;15302935;15057824;14526185;12477932;11592825;11527424;9872056;8889548;8499920;7905855;7633444;1302022;16169070;19615732;16751776;21183687;21906983;22505724 1762 G5E9A7;H0YGU4;Q09019;Q8WUW6;R4GMW3;R4GMZ4;R4GN01 ABBA01040952;AC011530;AK309497;AMYH01009855;BC019266;BC041034;BG106514;BM922103;BQ189202;BT006798;BX283745;CD106470;CH471126;L08835;L19267;NM_004943 AAA35767;AAC14447;AAH19266;AAI56312;AAP35444;ADZ15881;EAW57386;EAW57387;NP_004934;Q09019 Hs.515474 1681787;1690394;2156756 RH75247;RH78049;RH93875 D19S593E;DMR-N9;DMRN9;gene59 OTTHUMP00000239990;OTTHUMP00000239991;dystrophia myotonica WD repeat-containing protein;dystrophia myotonica-containing WD repeat motif protein;dystrophia myotonica-containing wd repeat motif;protein 59 protein-coding ENSG00000185800 2936 609857 VALIDATED 1345316 DMRTC2 DMRT-like family C2 19 19 19 q13.2 39148773 39156084 + 47040926 47048238 + 42349086 42356398 + 1580863;6480464 15489334;14702039;12477932;11863363;16344560;20211142 63946 B4DX56;M0QZH7;M0R1Z9;M0R2D7;Q8IXT2 ABBA01040814;AC010616;AJ291669;AK057404;AK301822;AMYH01009820;BC029202;BC039266;CH471126;DB026313;HC006930;HC044507;NM_001040283 AAH29202;AAH39266;ABZ92201;BAB71473;BAG63268;CAC40652;CBH19270;CBH30583;EAW57068;EAW57069;EAW57070;NP_001035373;Q8IXT2 Hs.350507 2107019 DMRTC2__4757 doublesex- and mab-3-related transcription factor C2 protein-coding ENSG00000142025 13911 16829 614806 VALIDATED 1317027 DMXL1 Dmx-like 1 The protein encoded by this gene is a member of a superfamily of WD repeat proteins. The function of this protein is not yet determined; however, other related family members perform functions involved in regulatory processes. [provided by RefSeq, Jul 2008] 5 5 5 q22 114354305 114538495 + 118434983 118612721 + 118407084 118584822 + 1580863;6480464 21697133;10708522;14702039;12477932;15840729;21139048;23535033 1657 E7EMZ0;F5H269;Q9Y485 AB593142;ABBA01068977;ABBA01068978;ABBA01068979;ABBA01068980;ABBA01068981;ABBA01068982;AC027320;AC118465;AJ005821;AK126726;AMYH01015576;BC028004;BC144537;BC150616;BC171784;BX649064;CH471086;NM_005509 AAH28004;AAI44538;AAI50617;BAJ84078;CAA06718;EAW48916;EAW48917;EAW48918;NP_005500;Q9Y485 Hs.181042 1651823;1698584;1993424;2120680;2154244;5024039;5037552;5094951 D16S325;D8S2279;DMXL1;REN67619;RH102844;SHGC-64872;STS-AA011504;WI-17881 DKFZp779O1239;FLJ44772 OTTHUMP00000159140;X-like 1 protein;dmX-like protein 1 APPROVED protein-coding ENSG00000172869 2937 09294 605671 VALIDATED 1322873 DMTN dematin actin binding protein Dematin, or EPB49, is an actin-bundling protein originally identified in the erythroid membrane skeleton. Its actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein kinase and is restored after dephosphorylation (Rana et al., 1993 [PubMed 8341682]).[supplied by OMIM, Apr 2009] 8 8 p21.1 21972680 21995982 + 21911081 21940036 + 1580863;6480464 7615546;12011427;8341682;19030997;16697408;16344560;15489334;14702039;14660664;12477932;8608138;16169070;14623284;20396930;18541383;18029348;19241372;23060452;22927433;21832049;19953087;10565303;18347014;23355471 2039 B4DI75;E5RFK4;E5RFK6;E5RGQ0;E5RGQ7;E5RIG5;E5RJ56;E5RJ61;E5RJC0;Q08495 AB209718;ABBA01005500;ABBA01005501;ABBA01005502;AC091171;AK055842;AK091581;AK289650;AK295452;AK308807;AMYH01018562;AMYH01018563;AMYH01018564;BC006318;BC017445;BC052805;BI222385;BT007396;CH471080;DA170493;DA372459;DA521027;L19713;NM_001114135;NM_001114136;NM_001114137;NM_001114138;NM_001114139;NM_001978;U28389 AAA58438;AAC50223;AAH06318;AAH17445;AAH52805;AAP36060;ABM83705;ABM87025;ACE87087;ACE87766;BAD92955;BAF82339;BAG51582;BAG52385;BAG58387;EAW63724;EAW63725;EAW63726;NP_001107607;NP_001107608;NP_001107609;NP_001107610;NP_001107611;NP_001969;Q08495 Hs.106124 1335778;1660433;2115053;2172714 D8S1951;DXS8056;RH70272;WI-20118 DMT;EPB49;FLJ78462;FLJ98848 OTTHUMP00000122608;OTTHUMP00000224735;OTTHUMP00000224736;OTTHUMP00000224737;OTTHUMP00000224738;OTTHUMP00000224742;OTTHUMP00000224743;OTTHUMP00000224744;dematin;dematin actin-binding protein;erythrocyte membrane protein band 4.9 (dematin) APPROVED protein-coding ENSG00000158856 3382 00506 125305 VALIDATED 1343402 DNAH1 dynein, axonemal, heavy chain 1 3 3 3 p21.1 52329658 52413835 + 52325560 52409547 + 52350335 52434513 + 1298890;6480464;6907045 8812413 9373155;19286658;18492703;14702039;10718198;9256245;19529763;21926972 25981 H7C506;H7C563;Q92863 AB037831;AB290163;ABBA01024509;AC092045;AJ132083;AJ132094;AK023766;AK074130;AK125990;AL117428;AMYH01013183;AW016677;AY221994;CH471055;DN831799;NM_015512;U61738;U83571;Z83804 AAB82761;AAC50702;AAO43053;BAA92648;BAB14671;BAB84956;BAC86379;BAG06717;CAA10556;CAB06058;CAB46445;CAB55917;EAW65215;EAW65216;EAW65217;EAW65218;EAW65219;NP_056327;Q9P2D7 Hs.655469 1337846;1648163;1700840;1759009;1768736;1776997;1846887;5113290 D3S3648;D3S3975;G27739;RH104046;RH65657;RH67921;RH91473;SHGC-150990 DNAHC1;HDHC7;HL-11;HL11;XLHSRF-1 DNAH1 variant protein;HSRF-1;OTTHUMP00000212848;axonemal beta dynein heavy chain 1;ciliary dynein heavy chain 1;dynein heavy chain 1, axonemal;dynein, axonemal, heavy polypeptide 1;heat shock regulated 1;heat shock regulated protein 1 protein-coding ENSG00000114841 2940 11790 603332 VALIDATED 4143988 DNAH10OS dynein, axonemal, heavy chain 10 opposite strand 12 12 12 q24.31 124018415 124019307 - 122984592 122985484 - 122984592 122985484 - 19726446;19797681 642797 P0CZ25 AC079315;AK127211;XR_041541;XR_041542;XR_041543 Hs.728379 1660594;1660601;1665799;1772200 A004O46;STS-Z41302;WI-12439;WI-12482 FLJ45278 dynein, axonemal, heavy chain 10 opposite strand;dynein, axonemal, heavy chain 10 opposite strand (non-protein coding) protein-coding 37121 1347338 DMXL2 Dmx-like 2 This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 15 15 15 q21.2 28633317 28808362 - 49527229 49702259 - 51739921 51914967 - 1580863;6480464 12786944;11809763;19023099;17975119;16344560;15144186;12477932;12168954;10048485;20810660;21139048 23312 H0YLM8;H0YM41;H0YME1;Q8TDJ6 AA629921;AB020663;ABBA01039081;AC020892;AC066613;AF389880;AK000156;AK123284;AK129764;AMYH01006644;AMYH01006645;BC016032;BC022050;BC035883;BC140781;BC144539;BX491117;CH471082;DA484900;DB359904;NG_017155;NM_001174116;NM_001174117;NM_015263 AAH22050;AAI40782;AAI44540;AAL93215;BAA74879;EAW77420;EAW77421;EAW77422;EAW77423;EAW77424;NP_001167587;NP_001167588;NP_056078;Q8TDJ6 Hs.511386 1701300;1857712;2109749;2144681;2144683;5118444 A005R29;D11S3316;G20445;RC3__5662;RH104279;SHGC-32630 FLJ26672;KIAA0856;RC3 OTTHUMP00000162545;dmX-like protein 2;rabconnectin-3 APPROVED protein-coding ENSG00000104093 2938 10188 612186 REVIEWED 1604455 DNAH12L dynein, axonemal, heavy chain 12-like 3 p14.3 57458771 57505108 - 17287340 375347 AC092418;AK126276;CD684932;CH471055;NM_198564 BAC86512;EAW65341;NP_940966;Q6ZTR8 Hs.669912 DNAH7L;FLJ44290 protein-coding 24780 13487 1603257 DNAH12 dynein, axonemal, heavy chain 12 3 3 3 p14.3 57293347 57543862 - 57302817 57361293 - 57327727 57530071 - 6480464 9373155;17283181;17173037;9256245;8812413;8666668;14702039;11181995;16641997;17287340;19174780;19422935;20379614;20886065;22219177 201625 E9PG32;H7C5N3;H7C5R2;H7C5S4;J3QTM1;Q6ZR08 ABBA01024416;ABBA01024417;ABBA01024418;ABBA01024419;ABBA01024420;ABBA01024421;ABBA01024422;AC092418;AC093928;AC121250;AC231288;AC232304;AK097746;AK126276;AK128592;AMYH01013220;AMYH01013221;AMYH01013222;AMYH01013223;CD684932;CD708076;CH471055;NM_178504;NM_198564;U53532;U61739;U83573;Z83802 AAB09729;AAB82762;AAC50703;BAC05158;BAC86512;BAC87517;CAB06056;EAW65339;EAW65340;EAW65341;NP_848599;NP_940966;Q6ZR08 Hs.201378 DHC3;DLP12;DNAH12L;DNAH7L;DNAHC12;DNAHC3;DNHD2;FLJ40427;FLJ44290;HL-19;HL19 OTTHUMP00000213132;OTTHUMP00000213134;axonemal beta dynein heavy chain 12;axonemal dynein heavy chain isotype3;ciliary dynein heavy chain 12;dynein heavy chain 12, axonemal;dynein heavy chain domain-containing protein 2;dynein, axonemal, heavy chain 12;dynein, axonemal, heavy chain 12-like;dynein, axonemal, heavy chain 7-like;dynein, axonemal, heavy polypeptide 12;dynein, heavy chain-5 protein-coding ENSG00000174844 2943 08281 603340 VALIDATED 1348566 DNAH11 dynein, axonemal, heavy chain 11 This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013] 7 7 p21 21549358 21907982 + 21582833 21941457 + 1580863;734893;6480464;7240710 12142464 19060911;18492703;18022865;15375157;15304525;14702039;12853948;10737800;9325061;9256245;19410201;20379614;21116278;20513915;23502783;21906983;22184204;20686565;22120009;20301301;23103227 8701 H7C221;H9NAJ7;H9NAJ8;Q96DT5;Q96NT7 AACC02000007;ABBA01056683;ABBA01056684;ABBA01056685;ABBA01056686;AC004002;AC004595;AC005078;AC013481;AC073102;AC099653;AC102952;AI743846;AJ132087;AJ320497;AK054657;AK095018;AL529367;AMYH01017105;BF369731;BQ365981;CA424782;CH236948;CH471073;JQ247523;JQ247524;NG_012886;NM_001277115;NM_003777;U83569 AAB82759;AAB96346;AAC78616;AAS07433;AAS07505;AFF19589;AFF19590;BAB70785;CAA10560;CAC60121;EAW93736;EAW93737;EAW93738;EAW93739;NP_001264044;NP_003768;Q96DT5 Hs.520245;Hs.744069 1336288;1664958;1670549;1670950;1688793;1688809;1691396;1694854;1700650;2137215;2137585;2145170;2145309;2161668;2178477;2184234;7186699 D7S1868;D7S1895;D7S2336;D7S2710;D7S2813;D7S493;D7S729;D7S772;G42095;G44296;GDB:1317676;RH103948;RH15622;RH65966;RH75427;SHGC-63627 CILD7;DNAHBL;DNAHC11;DNHBL;DPL11;FLJ30095;FLJ37699 OTTHUMP00000201866;axonemal beta dynein heavy chain 11;axonemal dynein heavy chain 11;ciliary dynein heavy chain 11;dynein heavy chain 11, axonemal;dynein, axonemal, heavy polypeptide 11;dynein, ciliary, heavy chain 11;dynein, heavy chain beta-like APPROVED protein-coding ENSG00000105877 2942 09134 603339;611884 REVIEWED 1344286 DNAH13 dynein, axonemal, heavy polypeptide 13 1771 2944 1315606 DNA2 DNA replication helicase/nuclease 2 DNA2 is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability (Duxin et al., 2009 [PubMed 19487465]).[supplied by OMIM, Nov 2010] 10 10 q21.3-q22.1 69843827 69901885 - 70173821 70231730 - 6480464;6907045 11473323;18995831;18593712;17032657;16595800;16595799;15489334;15164054;12477932;8938459;7788527;19487465;20019387;20131965;20379614;21139048;21890473;21906983;22570476;22678362;21963094;23000965;23352259;22987153;22570407 1763 F8VPM6;F8VR31;H0Y455;J3KPX5;P51530 ABBA01019566;ABBA01019567;AK307939;AK308333;AK308358;AL136233;AMYH01002802;BC017003;BC028188;BC041115;BC053574;BC063664;BC073945;BC111740;D42046;DC404138;NM_001080449;NR_102264 AAH28188;AAH41115;AAH53574;AAH63664;AAI11741;BAA07647;NP_001073918;P51530 Hs.532446 1731046;1731114;2133849;5127109 D10S2165;D10S274;D10S309;RH25311 DNA2L;FLJ10063;KIAA0083;MGC133297;PEOA6;hDNA2 DNA replication ATP-dependent helicase-like homolog;DNA replication ATP-dependent helicase/nuclease DNA2;DNA replication helicase 2 homolog;DNA2 (DNA replication helicase, yeast, homolog)-like;DNA2 DNA replication helicase 2-like;DNA2-like helicase;OTTHUMP00000019702;OTTHUMP00000242842;OTTHUMP00000242843 APPROVED protein-coding ENSG00000138346 2939 601810;615156 VALIDATED 1602406 DNAAF3 dynein, axonemal, assembly factor 3 The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 19 q13.4 52711225 52719212 - 60361843 60369830 - 55670029 55678090 - 6480464;7240710 14702039;12477932;16344560;22387996;20301301;21906983 352909 E3W9A1;E9PLY2;H0YCU4;H0YD30;M0QX33;M0R2L0;M0R359;Q8N9W5 ABBA01068119;AC010327;AK093458;AK093473;AK097388;AMYH01009985;AW182162;BC016843;BC063449;CH471135;DB093464;NG_032759;NM_001256714;NM_001256715;NM_001256716;NM_178837 AAH16843;AAH63449;BAC04172;BAC04177;BAC05029;EAW72343;NP_001243643;NP_001243644;NP_001243645;NP_849159;Q8N9W5 Hs.351582 1752519 SHGC-106378 C19orf51;CILD2;DAB1;FLJ36139;FLJ40069;PCD;PF22 OTTHUMP00000158685;OTTHUMP00000158686;OTTHUMP00000158687;UPF0470 protein C19orf51;ciliary dyskinesia, primary 2;dynein assembly factor 3, axonemal;hypothetical protein LOC352909 APPROVED protein-coding ENSG00000167646 30492 14185 606763;614566 REVIEWED 733008 DNAH10 dynein, axonemal, heavy chain 10 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 123843433 124020043 + 122812995 122986220 + 124247042 124420267 + 6480464 15937072;14702039;12477932;11181995;11175280;19936222;22479202;22589738;23382691 196385 B0I1S1;F5H515;H0YGZ2;Q8IVF4 AB095937;AB290168;ABBA01060388;ABBA01060389;ABBA01060390;ABBA01060391;ABBA01060392;ABBA01060393;AC079315;AC117503;AI240003;AJ132089;AK091526;AK095581;AK125475;AK125796;AL046294;AMYH01004841;AMYH01004842;BC144575;BC150622;CH471054;DV080260;DV080370;DV080609;DV080705;NM_207437 AAI44576;AAI50623;BAC04579;BAC23113;BAC86173;BAC86296;BAG06722;CAA10562;EAW98437;NP_997320;Q8IVF4 Hs.622654 1660594;1665887;1732709;2153437 D12S837;G15665;WI-12439;WI-13960 FLJ38262;FLJ43486;FLJ43808;KIAA2017 DNAH10 variant protein;OTTHUMP00000205777;axonemal beta dynein heavy chain 10;ciliary dynein heavy chain 10;dynein heavy chain 10, axonemal;dynein, axonemal, heavy polypeptide 10 APPROVED protein-coding ENSG00000197653 2941 13473;13477 605884 VALIDATED 1321142 DNAAF2 dynein, axonemal, assembly factor 2 This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 14 14 14 q21.3 29951711 29961766 - 49161642 49171698 - 50091892 50101948 - 6480464 12508121;19052621;15489334;14702039;12477932;21832049;19953087;20301301;21890473 55172 Q9NVR5 ABBA01018111;ABBA01018112;ABBA01018113;AK001425;AL139099;AMYH01005712;BC011400;BC013322;BX092175;BX248264;BX248765;CH471078;FJ158843;NG_013070;NM_001083908;NM_018139 AAH11400;AAH13322;ACN30493;BAA91684;CAD62592;CAD66572;EAW65755;EAW65756;EAW65757;NP_001077377;NP_060609;Q9NVR5 Hs.231761 1335843;1774661;2157938 A005E12;D14S984;STS-AA025097 C14orf104;CILD10;FLJ10563;KTU;PF13 OTTHUMP00000178932;OTTHUMP00000197223;dynein assembly factor 2, axonemal;kintoun;protein kintoun APPROVED protein-coding ENSG00000165506 20188 12627 612517 REVIEWED 1606172 DNAAF1 dynein, axonemal, assembly factor 1 The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.[provided by RefSeq, May 2010] 16 16 16 q24.1 68480658 68513333 + 82736366 82769025 + 84178865 84211524 + 6480464 18385425;16344560;15489334;14702039;12477932;19944400;19944405;18029348;21139048;20301301 123872 H3BNQ4;H3BP51;H3BV09;Q8NEP3 ABBA01016918;AC009123;AC040169;AK057238;AK058059;AK295990;AK310961;AL137334;AL833327;AL833328;AL833336;AMYH01007867;BC024009;BX648657;CH471114;DA349893;NG_021174;NM_178452 AAH24009;BAB71392;BAB71645;BAG58765;CAH10390;CAH10394;CAH10706;EAW95500;EAW95501;NP_848547;Q8NEP3 Hs.310164 1663283;1769711;5016478;5021872;5022200;5022463;5022578;5022588;5022639;5024761;5037552;5109362 D11S2808;D17S1239;D1S1423;D3S1673;D5S1597E;D8S2279;GDB:434012;L18426;RH17650;RH36905;RH69603;sY3084 CILD13;DKFZp434A119;FLJ25330;LRRC50;ODA7 OTTHUMP00000158639;dynein assembly factor 1, axonemal;leucine rich repeat containing 50;leucine-rich repeat-containing protein 50;outer row dynein assembly 7 homolog APPROVED protein-coding ENSG00000154099 30539 14023 613190 REVIEWED 1350731 DNAH14 dynein, axonemal, heavy chain 14 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008] 1 1 1 q42.12 198307991 198777597 + 223228456 223653619 + 225117356 225586996 + 1298890;1580863;6480464 8812413 15146197;12477932;11181995;21832049;21890473 127602 C9JU64;H0YBB1;H0YBI3;H7BXS7;H7C164;H7C374;H7C3Z3;H9KV43;M9MMK7;Q5VU34 ABBA01009674;ABBA01009675;ABBA01009676;ABBA01009677;AC092811;AC093560;AI076810;AL162738;AL357912;AL590547;AL596134;AL645769;AMYH01001769;AMYH01001770;AMYH01001771;AMYH01001772;BC017415;BC042869;BC119716;BC119717;CH471098;CN257875;CR936804;DB443048;NM_001145154;NM_001373;NM_144989;U61741 AAC50705;AAI19717;AAI19718;EAW69734;EAW69735;EAW69736;EAW69737;EAW69738;EAW69739;EAW69740;NP_001138626;NP_001364;NP_659426;Q0VDD8 Hs.133977 1663546;1687181;1688285;1691982;1710000;1718665;1747973;1749337;1749753;2107371;2146693;2148841;2151037;2152797 AL009316;AL009836;AL009971;AL010017;AL010084;AL033643;G66815;MGC27277__7697;RH123020;RH92036;RH94064;SHGC-111097;SHGC-111509;SHGC-82269 C1orf67;DKFZp781B1548;Dnahc14;HL-18;HL18;MGC149665;MGC149666;MGC27277;MGC51214 OTTHUMP00000035885;OTTHUMP00000035888;OTTHUMP00000035889;OTTHUMP00000035890;OTTHUMP00000203911;OTTHUMP00000228298;axonemal beta dynein heavy chain 14;ciliary dynein heavy chain 14;dynein heavy chain 14, axonemal;dynein, axonemal, heavy polypeptide 14 APPROVED protein-coding ENSG00000185842 2945 603341 VALIDATED 1348406 DNAH5 dynein, axonemal, heavy chain 5 This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009] 5 5 p15.2 13745039 13997589 - 13690437 13944589 - 1580863;1601080;6480464;7240710 11788826 8812413;19410201;19357118;19300264;18492703;17903303;16627867;16492982;15845866;14702039;11062149;10997877;9373155;9256245;8889548;6221120;20978832;20220176;22589738;22036096;22219177;20301301;23322567 1767 Q8NEX4;Q8TE73 AB046823;AB290164;ABBA01020630;ABBA01020631;ABBA01020632;ABBA01020633;ABBA01020634;AC016546;AC016576;AC026811;AK026756;AK055138;AK128600;AMYH01014920;AY045575;AY049075;AY050643;CA314998;CH471102;NG_013081;NM_001369;U61735 AAC50699;AAK92217;AAL06603;AAL14192;BAB13429;BAB15543;BAG06718;EAX08050;NP_001360;Q8TE73 Hs.212360 1708866;1748559;1852892;2172825;2184757;5017821 D5S2866;D5S2890;DNAH5;L28342;SHGC-110163;SHGC-83930 CILD3;DNAHC5;FLJ46759;HL1;KIAA1603;KTGNR;PCD OTTHUMP00000115635;axonemal beta dynein heavy chain 5;ciliary dynein heavy chain 5;dynein heavy chain 5, axonemal;dynein, axonemal, heavy polypeptide 5 APPROVED protein-coding ENSG00000039139 2950 04514 603335;608644 REVIEWED 7244763 DNAH17-AS1 DNAH17 antisense RNA 1 12477932 100996295 M0R1Q4 ABBA01002921;AC016182;AK127460;AMYH01008671;BC014121;BC033171;BG331155;BQ919011;NR_102401;XM_003846285;XM_003846601;XM_003960734 BAC86989;XP_003846333;XP_003846649;XP_003960783 Hs.615304;Hs.636710;Hs.638630 5037552 D8S2279 miscrna 48594 VALIDATED 1345551 DNAH17 dynein, axonemal, heavy chain 17 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 73013986 73169157 - 73931371 74082734 - 76419778 76573476 - 1580863;6480464 9373155;19240061;15822942;14702039;12477932;11181995;9545504 8632 K7EK91;K7ELN3;Q9UFH2 AB290170;ABBA01002919;ABBA01002920;ABBA01002921;ABBA01002922;ABBA01002923;ABBA01002924;AC016182;AC061992;AJ000522;AK097776;AK126059;AK128065;AL122077;AL832652;AMYH01008669;AMYH01008670;AMYH01008671;AMYH01008672;BC105107;BC112284;CH471099;NM_173628 BAC05170;BAG06724;CAA04165;CAB59252;EAW89527;EAW89528;NP_775899;Q9UFH2 Hs.375975 1700156;1739177;1765669;1770338;1783544;5015961;5124339 D15S1477;D17S1637;RH103691;RH18538;RH98785;SHGC-149110;SHGC-154024 DNAHL1;DNEL2;FLJ40457;MGC132767;MGC138489 OTTHUMP00000197862;axonemal beta dynein heavy chain 17;axonemal dynein heavy chain;axonemal dynein heavy chain-like protein 1;ciliary dynein heavy chain 17;ciliary dynein heavy chain-like protein 1;dynein heavy chain 17, axonemal;dynein light chain 2, axonemal;dynein, axonemal, heavy chain like 1;dynein, axonemal, heavy like 1;dynein, axonemal, heavy polypeptide 17 APPROVED protein-coding ENSG00000187775 2946 16830 610063 PROVISIONAL 1343596 DNAH2 dynein, axonemal, heavy chain 2 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 7649403 7763686 + 7563764 7677783 + 7623039 7737058 + 1580863;6480464;6907045 9256245;12477932;12107411;10819331;21145461;19430480;21182205 146754 I3L4H9;I3L520;Q9P225 AB040936;ABBA01054883;ABBA01054884;ABBA01054885;ABBA01054886;ABBA01054887;AC025335;AC087388;AK128517;AK292607;AMYH01008085;BC034225;BQ638815;BX648163;CH471108;NM_020877;U83570 AAB82760;AAH34225;BAA96027;BAF85296;EAW90129;EAW90130;EAW90131;NP_065928;Q9P225 Hs.367649 1335868;1652547;1667736;2184946;5020948 D17S655;D17S720;G35510;SGC30770;SHGC-57535 DNAHC2;DNHD3;FLJ46675;KIAA1503 axonemal beta dynein heavy chain 2;ciliary dynein heavy chain 2;dynein heavy chain 2, axonemal;dynein heavy chain domain 3;dynein heavy chain domain-containing protein 3;dynein, axonemal, heavy chain-2;dynein, axonemal, heavy polypeptide 2 APPROVED protein-coding ENSG00000183914 2948 17214 603333 VALIDATED 1348996 DNAH8 dynein, axonemal, heavy chain 8 The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012] 6 6 6 p21.2 40244058 40551978 + 38798530 39106545 + 38683117 38998574 + 727749;6480464 9373155 18649358;17081983;14702039;14574404;12297094;9256245;8812413;19536151 1769 H0Y7V4;H3BLZ4;Q8IU65;Q96JB1 ABBA01038305;ABBA01038306;ABBA01038307;AF356519;AF527621;AF527622;AF527623;AJ132091;AK093434;AK093653;AK098716;AL034345;AL035555;AL035690;AL042262;AL353700;AL391415;AMYH01016287;AMYH01016288;AW503176;CH471081;NM_001206927;Z83806 AAK60620;AAN34632;AAN34633;AAN34634;CAA10564;CAB06060;EAX03966;EAX03967;NP_001193856;Q96JB1 Hs.520106;Hs.686107 1338684;1660242;1680529;1694154;1694156;1694188;1694230;1701324;1705194;2156375 AL035181;AL035182;AL035191;AL035204;D6S1019;RH104292;RH37567;RH66536;RH99051;SHGC-80048 ATPase;FLJ25850;FLJ36115;FLJ36334;hdhc9 OTTHUMP00000017871;OTTHUMP00000017872;OTTHUMP00000017873;axonemal beta dynein heavy chain 8;ciliary dynein heavy chain 8;dynein heavy chain 8, axonemal;dynein, axonemal, heavy polypeptide 8 APPROVED protein-coding ENSG00000124721 2952 04515 603337 VALIDATED 1314138 DNAH3 dynein, axonemal, heavy chain 3 16 16 16 p12.3 20254356 20480595 - 20851977 21078263 - 20944476 21170762 - 727749;6480464;6907045 9373155 9256245;14702039;12477932;11175280;10493829;9556328;20379614;17620599;22610502 55567 Q9H5D3;Q9UG35 ABBA01028288;ABBA01028289;ABBA01028290;ABBA01028291;ABBA01028292;ABBA01028293;AC002394;AC008551;AC105410;AF494040;AJ132085;AJ132092;AK056509;AK125907;AK125952;AK303958;AK310973;AL096732;AMYH01007346;AMYH01007347;AMYH01007348;BC019878;CH471228;NM_017539;U83574;Z83805 AAB82763;AAC05809;AAH19878;AAM12861;BAE46616;BAG64883;CAA10558;CAA10565;CAB06059;CAB46377;EAW66850;EAW66851;EAW66852;EAW66853;NP_060009;Q8TD57 Hs.526500 1338653;1338654;1733714;1738695;2158142 D16S2805;D16S3045;D16S734;D16S772;D2S1259 DKFZp434N074;DLP3;DNAHC3B;FLJ31947;FLJ43919;FLJ43964;Hsadhc3 OTTHUMP00000115845;axonemal beta dynein heavy chain 3;axonemal dynein, heavy chain;ciliary dynein heavy chain 3;dnahc3-b;dynein heavy chain 3, axonemal;dynein, axonemal, heavy polypeptide 3 protein-coding ENSG00000158486 2949 04513 603334 PROVISIONAL 1347757 DNAH6 dynein, axonemal, heavy chain 6 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH6 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008] 2 2 2 p11.2 84572707 84875501 + 84743579 85046713 + 84743579 85046713 + 1298890;6480464 8812413 15937072;14702039;12477932;11214970;11181995;11175280;22505724 1768 Q92861 AB051484;AB290165;ABBA01075724;ABBA01075725;ABBA01075726;ABBA01075727;AC010087;AC096770;AC098975;AC109827;AJ132086;AK027182;AK094676;AL512706;AMYH01010489;AMYH01010490;BC015442;BC104884;BC113424;BC117259;BC143365;BC143666;CH471053;NM_001370;U61736 AAC50700;AAH15442;AAI04885;AAI13425;AAI17260;AAI43667;AAX93108;AAX93115;AAY24108;ADZ16102;BAB15685;BAB21788;BAC04400;BAG06719;CAA10559;CAC21651;EAW99556;EAW99557;NP_001361;Q9C0G6 Hs.249972 1334738;1335358;1341370;1651052;1680359;1696280;1755551;1765665;1773639;2166644 D2S2041;D2S210E;D2S2371;D2S394;D2S440;RH28433;SHGC-142405;SHGC-149107;SHGC-83772;UniSTS:4617 DKFZp667K087;DNHL1;Dnahc6;FLJ23529;FLJ37357;HL-2;HL2;KIAA1697;MGC132544;MGC141984;MGC177197 OTTHUMP00000202725;axonemal beta dynein heavy chain 6;ciliary dynein heavy chain 6;dynein heavy chain 6, axonemal;dynein heavy chain-like 1;dynein, axonemal, heavy polypeptide 6 APPROVED protein-coding ENSG00000115423 2951 603336 VALIDATED 4889716 DNAJA1P1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 1 13 13 13 q21.1 40283140 40284581 - 58223181 58224368 - 59325048 59326489 - 100129308 ABBA01037005;AL354807;AMYH01005151;NG_011453 pseudo 39337 INFERRED 4889648 DNAJA1P2 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 2 2 2 2 q23.3 148232039 148233547 - 154326303 154327405 - 154617801 154619309 - 100131207 ABBA01004806;AC092584;AMYH01011184;NG_021529 pseudo 39338 INFERRED 4889692 DNAJA1P3 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 3 X X X q22.3 107066075 107067562 - 106481536 106482728 - 106594717 106596204 - 644588 ABBA01035885;AC004081;AMYH01022827;NG_022628 1792530 PMC153017P1 pseudo 39339 INFERRED 4889687 DNAJA1P4 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 4 6 6 6 q22.1 115412076 115413247 - 114777340 114784021 - 114670650 114671821 - 728614 ABBA01026060;AL021327;AMYH01016608;NG_022322 1706108;2145548 SHGC-36881;SHGC-80092 pseudo 39340 INFERRED 4889634 DNAJA1P5 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 5 1 1 1 p22 100601224 100623956 + 102131248 102132192 + 102337568 102360299 + 16196087 94236 Q96RF1 ABBA01045421;AF395440;AL356280;AMYH01000830;NR_033424 AAK73122 Hs.606193 HEJ1 pseudo 39341 VALIDATED 1317528 DNAH7 dynein, axonemal, heavy chain 7 DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] 2 2 2 q32.3 190358292 190689358 - 196310672 196641781 - 196602427 196933536 - 727749;6480464 9373155 11877439;15342556;14702039;12477932;10231032;20379614;23314748;22505724 56171 C9JUY3;H7C362;Q68CY5 AB023161;ABBA01062450;ABBA01062451;AC013274;AC068919;AC104600;AC114760;AF327442;AJ132084;AJ132093;AK094515;AMYH01011380;AMYH01011381;AMYH01011382;BC029567;BP199399;BX117789;CH471063;CR749651;NM_018897;Z83801 AAH29567;AAL37427;AAY14776;AAY14981;AAY14995;AAY24051;BAA76788;BAC04372;CAA10557;CAB06055;CAB46444;CAH18445;EAW70120;EAW70121;NP_061720;Q8WXX0 Hs.97403 1691068;1715145;2218766;5022200;5024413;5037552 D8S2279;DNAH7__4760;L17877;L18426;RH119823;RH92946 DKFZp686C09101;FLJ37196;KIAA0944;MGC39580 OTTHUMP00000205669;axonemal beta dynein heavy chain 7;axonemal dynein heavy chain 7;ciliary dynein heavy chain 7;dynein heavy chain 7, axonemal;dynein heavy chain-like protein 2;dynein, axonemal, heavy polypeptide 7;hDHC2 APPROVED protein-coding ENSG00000118997 18661 10914 610061 VALIDATED 4889633 DNAJA1P6 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 6 22 22 1619286 1620725 - 17996870 17998309 - 100421542 ABBA01001447;AC004019;AMYH01012434;NG_027411 pseudo 39342 INFERRED 1604960 DNAHL1 dynein, axonemal, heavy chain like 1 17 q25.3 74051432 74078999 - 14702039;12477932 284176 AC016182;AK097776;BC105107;BC112284;NM_173628 AAI05108;AAI12285;BAC05170;NP_775899;Q2M2Y1;Q8N7Q7 Hs.375975 FLJ40457;MGC138489 protein-coding 26872 08283 1347605 DNAI2 dynein, axonemal, intermediate chain 2 The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] 17 17 17 q25 68862977 68903740 + 69782007 69822618 + 72270386 72311023 + 1580863;6480464;6907045;7240710 12477932;11153919;18950741;20379614;21130836;20301301;21953912 64446 J3KT23;J3QRG2;Q4G115;Q9GZS0 ABBA01028841;ABBA01028842;ABBA01028843;ABBA01028844;AC103809;AF250288;AF253088;AF253089;AF253090;AF253091;AF253092;AF253093;AF253094;AF253095;AF253096;AF253097;AF260782;AJ295276;AL137526;AMYH01008623;BC033013;BC039582;BG723530;BI462861;BI464166;CH471099;DB514781;NG_016865;NM_001172810;NM_023036 AAG38000;AAG38489;AAH33013;AAH39582;ADR82641;CAB70790;CAC17464;EAW89144;EAW89145;EAW89146;EAW89147;EAW89148;EAW89149;NP_001166281;NP_075462;Q9GZS0 Hs.147472 1765775;2181244 G19286;SHGC-149208 CILD9;DIC2 dynein intermediate chain 2, axonemal;dynein, axonemal, intermediate polypeptide 2 APPROVED protein-coding ENSG00000171595 18744 12019 605483;612444 REVIEWED 1313302 DNAH9 dynein, axonemal, heavy chain 9 This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 17 17 p12 11442473 11813790 + 11501748 11873065 + 6480464 15845866;8812413;8703119;11104725;14702039;12477932;11839535;11247663;11175280;10393427;9205841;20379614;16147992;23049088 1770 E7EP17;J3QLM9;J3QQK8;K7EMX3;K7EP21;Q99499;Q9NYC9 AB002355;AB290158;ABBA01054995;ABBA01054996;ABBA01054997;ABBA01054998;ABBA01054999;AC005209;AC005410;AC005701;AF015265;AF257737;AJ132088;AJ404468;AK055990;AK302009;AK310137;AMYH01008112;AMYH01008113;AMYH01008114;AMYH01008115;AMYH01008116;BC128261;BC128421;BC153883;CH471108;NM_001372;NM_004662;U61740;X99947 AAC27542;AAC50704;AAF69004;AAI28262;AAI28422;AAI53884;BAA21573;BAG06712;BAH13606;CAA10561;CAA68207;CAB94756;EAW89978;EAW89979;EAW89980;EAW89981;EAW89982;EAW89983;NP_001363;NP_004653;Q9NYC9 Hs.567259 1335999;1338657;1682035;1718583;1774609;1783456;2163223;2168250 D17S676;D17S969;G10683;G17965;RH122496;RH92236;SHGC-106903;STS-X99947 DNAH17L;DNEL1;DYH9;Dnahc9;HL-20;HL20;KIAA0357 DNAH9 variant protein;OTTHUMP00000160924;OTTHUMP00000160925;OTTHUMP00000160926;axonemal beta dynein heavy chain 9;ciliary dynein heavy chain 9;dynein heavy chain 9, axonemal;dynein, axonemal, heavy polypeptide 17-like;dynein, axonemal, heavy polypeptide 9 APPROVED protein-coding ENSG00000007174 2953 04511 603330 REVIEWED 1346895 DNAI1 dynein, axonemal, intermediate chain 1 This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 p13.3 34448811 34510982 + 34458811 34520982 + 1601083;1580863;6480464;6907045;7240710 11231901 10577904;19300264;18492703;18434704;16858015;15489334;15164053;14702039;12509440;12477932;11893720;11889140;11713099;1601418;20379614;20301301;21143860;16344560;21953912 27019 B7Z7U1;H0Y6V0;H0YDT9;Q5T8G8;Q9UI46 ABBA01065011;AF091619;AF190496;AI784188;AK057687;AK290696;AK302186;AK303937;AK314639;AL117535;AL160270;AMYH01019336;AMYH01019337;BC030583;BM013886;CH471071;DB033871;DB046118;NG_008127;NM_001281428;NM_012144 AAF18570;AAF19816;AAH30583;ABM92226;ABW03682;BAF83385;BAG37201;BAG63551;BAG64865;EAW58453;NP_001268357;NP_036276;Q9UI46 Hs.112667 1661457;1700924;2122772;2139824;2139826 A008P35;RH104089;RH18227;SHGC-32160;SHGC-33703 CILD1;DIC1;ICS;ICS1;MGC26204;PCD OTTHUMP00000021280;axonemal dynein intermediate chain 1;dynein intermediate chain 1, axonemal;dynein intermediate chain DNAI1;dynein, axonemal, intermediate polypeptide 1;immotile cilia syndrome 1 APPROVED protein-coding ENSG00000122735 2954 05080 244400;604366 REVIEWED 734413 DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 9 9 p13.3 33015209 33029062 + 33025209 33039062 + 1580863;6480464;6907045 20473970;21628590;15082773;8334160;18029348;16236267;15661747;15635413;15595953;15592455;15489334;14667819;12974469;12477932;12150907;11809754;11796717;11147971;10942430;10816573;10075921;9915854;9839446;9192730;8334161;16169070;17353931;11146634;21145461;15231747;16225871;16458196;18684711;19940115;20363747;20800603;16159877;15280358;17569659;22863883;22990118;20462248;14532270;14752510;22939629;16196087;19167051;20360068;21081666;21900206;21999493;22079093;22586326;21110914;18781797;20639865;21139048;21693764;21726808;21890473;21906983;21942715;21987572;19471022;21907836;22343013;12417652;19380743;19826009;20697350;22053931;22505724 3301 B7Z5C0;P31689 ABBA01065072;AJ277242;AK289623;AK298725;AL162590;AMYH01019321;AY186741;BC008182;BI462555;BT007292;CH471071;D13388;L08069;NM_001539 AAC37517;AAH08182;AAO31694;AAP35956;ABM82017;ABW03357;BAA02656;BAF82312;BAH12856;CAB93148;EAW58524;EAW58525;EAW58526;EAW58527;NP_001530;P31689 Hs.445203 1792530;2119955;2133967 D9S2046;D9S2102;PMC153017P1 DJ-2;DjA1;HDJ2;HSDJ;HSJ2;HSPF4;NEDD7;hDJ-2 HSJ-2;OTTHUMP00000021193;dnaJ homolog subfamily A member 1;dnaJ protein homolog 2;heat shock 40 kDa protein 4;heat shock protein J2;heat shock protein, DNAJ-like 2;human DnaJ protein 2;neural precursor cell expressed, developmentally down-regulated 7 protein-coding 5229 04159 602837 VALIDATED 1315195 DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3 This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 16 16 p13.3 4415883 4446777 + 4475806 4506776 + 1580863;6480464 15589840;11719219;17588722;18097612;16713569;16531398;16518412;16344560;16204048;16189514;15879105;15805242;15753086;15601829;15546961;15489334;15231748;15156195;14993262;14702039;12879007;12477932;12118383;12097419;11927590;11707338;11679576;11147971;11116152;11005857;10411904;9683573;8125298;14578343;18063578;21242965;20565727;15520177;19038220;19900451;20800603;20877624;21106534;22939629;19681071;19935715;21311096;21710689;16196087;17314511;20186120;21139048;21890473;18624398;21942715;22595283;21145461;22692211;22544056;19380743 9093 B3KM81;E7ES32;I3L1I6;I3L1T6;I3L1T9;I3L3D3;Q53G26;Q59E88;Q96EY1 AB209923;ABBA01026775;ABBA01026776;AC012676;AF061749;AF244136;AF411044;AK001333;AK127660;AK223105;AK295391;AK314218;AMYH01007104;BC007225;BC011855;BC012343;BC014062;BC020248;BC030145;BC032100;BX445320;CH471112;DA172592;NG_029866;NM_001135110;NM_005147 AAC29066;AAF66245;AAH07225;AAH11855;AAH12343;AAH14062;AAH20248;AAH30145;AAH32100;AAL35323;BAD93160;BAD96825;BAG36892;BAG50893;BAG58345;EAW85303;EAW85304;EAW85305;NP_001128582;NP_005138;Q96EY1 Hs.744096 1658360;1850647;1850649;2148339;5037552 1908;Bda26e12;D8S2279;SHGC-60607;SHGC-61069 FLJ45758;HCA57;TID1;hTid-1 OTTHUMP00000159844;dnaJ homolog subfamily A member 3, mitochondrial;dnaJ protein Tid-1;hepatocellular carcinoma-associated antigen 57;tumorous imaginal discs homolog;tumorous imaginal discs protein Tid56 homolog APPROVED protein-coding ENSG00000103423 11808 09758 608382 REVIEWED 1603338 DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13 DNAJA13 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see 608375.[supplied by OMIM, Mar 2008] 11 11 11 q13.4 70968115 70988077 + 73339012 73358980 + 73661364 73681332 + 6480464 12673577;14970903;14702039;20677014 374407 H0YFX2;P59910 ABBA01017499;ABBA01017500;AF516185;AK058095;AK128589;AMYH01003812;AP003717;AY138810;AY325766;CH471076;NM_153614 AAI41491;AAI53177;AAN15929;AAP47195;AAQ17190;EAW74920;EAW74921;NP_705842;P59910 Hs.567888 1340638;2191197;5015861;5015881;5020946;5022578;5022651;7185938 D10S16;D11S2921;D11S4207;D1S1423;GDB:335751;L17971;MARC_16091-16092:1018021675:1 FLJ46748;RSPH16A;TSARG5;TSARG6 1700014P03Rik;DnaJ (Hsp40) related, subfamily B, member 13;DnaJ-like protein;OTTHUMP00000237896;dnaJ homolog subfamily B member 13;radial spoke 16 homolog A;testis and spermatogenesis cell-related protein 6;testis spermatocyte apoptosis-related gene 6 protein;testis spermatogenesis apoptosis-related gene 3 protein;testis spermatogenesis apoptosis-related gene 6 protein;testis spermatogenesis apoptosis-related protein 6 APPROVED protein-coding ENSG00000187726 30718 15573 610263 PROVISIONAL 1320703 DNAJA4 DnaJ (Hsp40) homolog, subfamily A, member 4 15 15 15 q25.1 55492988 55511050 + 76343551 76361591 + 78556487 78574538 + 6480464 18654987;21110914;16344560;15489334;14702039;12477932;11147971;16196087;20360068;19940115 55466 C9JDE6;F5GWV1;F5H170;F5H300;F5H6V9;F8WF76;Q69YX3;Q8WW22 ABBA01060582;AC090607;AF116663;AF173388;AK025069;AK090898;AK096616;AK098079;AL133096;AL133431;AL133432;AL133433;AL133434;AMYH01006832;BC021720;BC031044;BX648710;CH471136;DA561365;DB047940;NM_001130182;NM_001130183;NM_018602 AAF71083;AAH21720;AAH31044;AAQ13629;BAC03540;BAC04828;BAC05229;CAH10558;CAH10713;EAW99176;EAW99177;EAW99178;EAW99179;NP_001123654;NP_001123655;NP_061072;Q8WW22 Hs.513053 1671269;1736528;1767095;1847004;2164678;2164680;2217266 A002B35;A007H23;D15S706E;D15S731E;DNAJA4_3649;G19898;WI-12207 MST104;MSTP104;PRO1472 OTTHUMP00000184907;OTTHUMP00000184908;OTTHUMP00000211598;OTTHUMP00000211600;dnaJ homolog subfamily A member 4 protein-coding ENSG00000140403 14885 09920 VALIDATED 1626575 DNAJB1P1 DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene 1 2 2 2 q32.3 186339890 186342143 - 192452781 192455657 - 192744718 192746971 - 14503850;12957361;12835518;11916264;19661690;20026329 171221 AB055808;ABBA01062401;AC098872;AMYH01011355;NG_001318 DNAJB1P;HSP40;psiHSP40 APPROVED pseudo 24988 INFERRED 732533 DNAJA2 DnaJ (Hsp40) homolog, subfamily A, member 2 The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008] 16 16 16 q12.1 31497392 31515743 - 45546775 45565126 - 46989274 47007625 - 1580863;2326084;4892102;5144125;6480464;4891447;6907045 16356826;18451092;16610357;15270078 9383053;17081983;16344560;15489334;15308774;12477932;11147971;10816573;10651811;10508479;9710638;8889548;21145461;18595009;18684711;19940115;17207965;16449650;23091061;17242198;20811636;20360068;16196087;17314511;19167051;19322201;21942715;21987572;22118674;21139048;21532573;21549307;21890473;21906983;23275444;18729074;19380743;22053931;22505724;23042605 10294 H3BMW5;I3L320;O60884 ABBA01013762;AC018845;AF088046;AJ001309;AK313031;AMYH01007642;AMYH01007643;BC013044;BC015809;BU677823;CH471092;DB097731;NM_005880;Y13350 AAH13044;AAH15809;ADQ32759;BAG35864;CAA04669;CAA73791;EAW82693;EAW82694;NP_005871;O60884 Hs.368078 1680757;1730179;1736608;1739203;2108021;2191619 D16S2601E;D16S2924;D16S424E;DNAJA2_7969;MARC_28645-28646:1043420928:1;RH70485 CPR3;DJ3;DJA2;DNAJ;DNJ3;HIRIP4;PRO3015;RDJ2 HIRA interacting protein 4;HIRA-interacting protein 4;OTTHUMP00000164136;cell cycle progression 3 protein;cell cycle progression restoration gene 3 protein;dnaJ homolog subfamily A member 2;renal carcinoma antigen NY-REN-14 APPROVED protein-coding ENSG00000069345 14884 07105 611322 REVIEWED 1312336 DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 19 19 p13.2 14486582 14490201 - 14625582 14629201 - 1580863;6480464;6907045 8975727;18977241;18211704;18032501;17601350;16842747;16179353;15489334;15362566;15194794;15075330;14752510;14743183;14702039;14503850;12477932;11821413;11809754;11500375;11457725;17012257;21163940;21832049;22863883;22990118;21145461;1586970;10075921;14499622;11147971;10816573;10593983;10330192;9920933;9727490;9545528;9499401;8764402;8670798;8250930;1754405;21249176;12150907;16919237;18620420;19254810;19615732;19901540;20026329;20801936;20809635;20084477;19779646;20735358;20516149;20562859;21139202;20811636;21698289;21763498;21639839;16196087;21480956;21124777;18457437;18624398;20360068;21987572;22022600;20885985;16009940;21044950;22779921;21139048;21890473;21906983;22075554;12417652;17024176;18187620;22505724;19738201;23000965;23400395;23482560 3337 B4DX52;M0QXK0;M0QYT3;M0QZD0;M0R080;M0R128;M0R1D6;P25685;Q6FHS4 ABBA01029664;AC012318;AK092989;AK301817;AK312624;AMYH01009533;BC002352;BC013157;BC019827;CH471106;CR536485;CR541677;D49547;D85429;JA462410;NM_006145;X62421 AAH02352;AAH19827;BAA08495;BAA12819;BAG35510;BAG63264;CAA44287;CAG38724;CAG46478;CCD35253;EAW84432;EAW84433;NP_006136;P25685 Hs.515210 2137292;5095923 RH11583;SHGC-11979 HSPF1;Hdj1;Hsp40;RSPH16B;Sis1 DnaJ (Hsp40) homolog, subfmaily B, member 1;dnaJ homolog subfamily B member 1;dnaJ protein homolog 1;hDj-1;heat shock 40 kDa protein 1;heat shock 40kD protein 1;heat shock protein 40;human DnaJ protein 1;radial spoke 16 homolog B protein-coding ENSG00000132002 5270 05198 604572 PROVISIONAL 1316536 DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 DNAJB11 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a C-terminal cysteine-rich region (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] 3 3 q27.3 187771161 187786283 + 186288467 186303589 + 1580863;6480464;6907045 16130169;17976514;16303743;16236267;16169070;15544163;15525676;15489334;15195998;14702039;12975309;12477932;12475965;11584023;11147971;10827079;17353931;21145461;19913121;20628086;20418907;18029348;19748898;20335166;21182205;22863883;22939629;22990118;18303054;23097496;20811636;19167051;21673190;21081666;21844235;19322201;21628590;18624398;21900206;21139048;21890473;21906983;22190034 51726 F5GXK8;H7C2Y5;Q9UBS4 AB028859;ABBA01058388;AC068631;AF228505;AF277317;AJ250137;AK075300;AK075430;AK124289;AK301292;AMYH01013734;AY359043;BC001144;BC046500;BT007063;CH471052;CR457096;CS051241;NM_016306 AAF61711;AAH01144;AAK69110;AAP35712;AAQ89402;ABM84795;ABM92218;BAA88307;BAC11533;BAC11617;BAG54025;BAG62850;CAB65118;CAG33377;CAI72116;EAW78190;NP_057390;Q9UBS4 Hs.317192 1336298;1727247;2157592;2217268;5123495 D3S3570;DNAJB11_3829;G62878;SGC30641;SHGC-77609 ABBP-2;ABBP2;DJ9;Dj-9;EDJ;ERdj3;ERj3;ERj3p;HEDJ;PRO1080;UNQ537;hDj-9;hDj9 APOBEC1-binding protein 2;DnaJ protein 9;ER-associated DNAJ protein 3;ER-associated Hsp40 co-chaperone;ERj3p;OTTHUMP00000210171;PWP1-interacting protein 4;dnaJ homolog subfamily B member 11;dnaJ protein homolog 9;hDj-9;human DnaJ protein 9 APPROVED protein-coding ENSG00000090520 14889 07485 611341 VALIDATED 1348292 DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] 10 10 10 q22.1 67379461 67399258 - 73762594 73784875 - 74092588 74114907 - 1580863;6480464;6907045 22318606;18029348;15489334;14702039;12477932;11147971;8125298;17207965;21150129;21148293;22939629;17342744;21139048;21890473;21906983;18781797;21987572 54788 J3KPS0;Q9NXW2 ABBA01020354;AC091769;AK000034;AK025942;AK027259;AK225051;AK302071;AL050381;AL833358;AMYH01002823;BC011812;BC064920;BI520000;BQ935010;CH471083;DC397260;NM_001002762;NM_017626 AAH11812;AAH64920;ADQ32612;BAA90896;BAB15289;BAH13619;CAH56413;EAW54454;EAW54455;EAW54456;NP_001002762;NP_060096;Q9NXW2 Hs.500013 1689266;2108023;2123533;2124087 A002G40;DNAJB12_8056;RH44259;RH99109 DJ10;DKFZp586B2023 OTTHUMP00000019786;dnaJ homolog subfamily B member 12 APPROVED protein-coding ENSG00000148719 14891 07086 608376 VALIDATED 1353448 DNAJB7 DnaJ (Hsp40) homolog, subfamily B, member 7 The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011] 22 22 22 q13.2 25059224 25061801 - 39585499 39588076 - 41255553 41258130 - 737633;6480464 12477932 18029348;15489334;15461802;11147971;10591208 150353 Q7Z6W7 ABBA01055609;AF085232;AMYH01012796;BC112135;CH471095;CR456468;NG_028221;NM_145174;Z98048 AAI12136;AAL40391;CAG30354;CAK54449;CAK54748;EAW60401;NP_660157;Q7Z6W7 Hs.585042 1671548;5493131 UniSTS:484407;WI-11646 DJ5;HSC3;MGC138340 OTTHUMP00000199380;dnaJ homolog subfamily B member 7;novel DnaJ domain protein APPROVED protein-coding ENSG00000172404 24986 07010 611336 VALIDATED 1602396 DNAJB3 DnaJ (Hsp40) homolog, subfamily B, member 3 2 2 2 q37 228372015 228373280 - 234316135 234317400 - 234651396 234652661 - 6480464 16189514;15891074;12477932;17207965;21906983 414061 Q8WWF6 ABBA01001950;AC114812;AMYH01011580;AY083665;BC017590;BC024013;NG_002601;NM_001001394 AAH17590;AAH24013;AAM08934;AAY24024;ADQ32790;NP_001001394;Q8WWF6 Hs.725533 1806278;1807916;1809430;1813554;1950354;1950356;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;2201354;2201356;2201370;2201372 ECD04094;ECD04933;ECD05707;ECD07800;REN46026;REN46027;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;stSG620123;stSG620124;stSG620131;stSG620132 HCG3;MGC26879 HCG3;dnaJ homolog subfamily B member 3 protein-coding 32397 13638 VALIDATED 5144498 DNAJB8-AS1 DNAJB8 antisense RNA 1 3 q21.3 128182437 128191160 + 14702039 285224 ABBA01020896;AC080005;AK097457;AMYH01013462;AMYH01013463;NR_037890 Hs.683815 1681322 RH92427 APPROVED miscrna ENSG00000242049 41029 VALIDATED 1316654 DNAJB5 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJB5 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM, Mar 2008] 9 9 9 p13.3 34921313 34930330 + 34979785 34988428 + 34989638 34998430 + 1580863;6480464 10570961;14702039;12477932;11147971;7566098;18555775;18457437;21078624;15456869;21139048 25822 H0Y4S1;H0YFL9;H0YGQ7;H0YH04;H7C5W0;J3KNR7;O75953;Q5T657 AA351558;AA434108;ABBA01064999;ABBA01065000;ABBA01065001;AF087870;AF088982;AK023253;AK299647;AK314671;AL355377;AL536638;AMYH01019341;BI915181;BU845478;BX419166;CH471071;NM_001135004;NM_001135005;NM_012266 AAC35860;AAM10498;ABM83118;ABM86314;BAG51176;BAG61568;EAW58407;NP_001128476;NP_001128477;NP_036398;O75953 Hs.237506 1681283;2177516 RH62785;RH98717 Hsc40;KIAA1045 OTTHUMP00000021307;OTTHUMP00000021308;OTTHUMP00000239644;OTTHUMP00000239645;dnaJ homolog subfamily B member 5;heat shock cognate 40;heat shock protein Hsp40-2;heat shock protein Hsp40-3;heat shock protein cognate 40 APPROVED protein-coding ENSG00000137094 14887 611328 VALIDATED 1605332 DNAJB14 DnaJ (Hsp40) homolog, subfamily B, member 14 4 4 4 q23 98118130 98165299 - 101039576 101086775 - 100820710 100867879 - 6480464 16344560;15815621;15489334;14702039;12975309;12477932;21832049;21139048;23018488 79982 F2Z2L8;H7BZG5;H7BZK3;H7C494;Q8TBM8 ABBA01063674;AC097460;AK023700;AK024343;AK095074;AL121021;AL833076;AL833412;AMYH01014423;AMYH01014424;AP001962;AY186740;AY358272;BC022248;BF307232;BQ006309;BX537609;CH471057;DA854416;NM_001031723;NM_001278310;NM_001278311 AAH22248;AAO31693;AAQ88639;AAY41012;ADR82647;BAB14645;BAB14893;CAD89928;CAD97796;EAX06114;EAX06115;EAX06116;EAX06117;NP_001026893;NP_001265239;NP_001265240;Q8TBM8 Hs.577426 1647774;1650661;1656840;1677166;1680355;1735410;1739355;2119794;2164620;2217406;5022578 D1S1423;D4S1216;D4S2582E;D8S1567E;H2AFZ_2801;RH70080;RH93159;SHGC-59572;SHGC-59634;SHGC-64328;SHGC-67358 EGNR9427;FLJ14281;MGC22187;PRO34683 OTTHUMP00000161679;dnaJ homolog subfamily B member 14 protein-coding 25881 07013 VALIDATED 1314092 DNAJB4 DnaJ (Hsp40) homolog, subfamily B, member 4 DNAJB4 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM, Mar 2008] 1 1 p31.1 78243224 78255586 + 78470636 78482998 + 1580863;6480464 9546042;16788156;16542645;15782117;15661747;15592455;15489334;12477932;11147971;21345358;11371506;18794131;20145123;20615403;22863883;22939629;18029348;20360068;16009940;21906983;22145905 11080 C9JUL4;Q9UDY4 AB209922;ABBA01074393;AC103591;AK297985;AK313205;AMYH01000723;AY669319;BC034721;CH471059;NM_007034;U40992;U41290 AAB07346;AAC14483;AAH34721;AAT70409;ABM82080;ABM85259;BAD93159;BAG36021;BAG60294;EAX06354;EAX06355;NP_008965;Q9UDY4 Hs.13852 DNAJW;DjB4;HLJ1 DnaJ-like heat shock protein 40;HSP40 homolog;OTTHUMP00000038541;dnaJ homolog subfamily B member 4;heat shock 40 kDa protein 1 homolog;heat shock protein 40 homolog;human liver DnaJ-like protein APPROVED protein-coding 14886 07486 611327 PROVISIONAL 1318848 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] 2 2 q32-q34 219852284 219859866 + 220144040 220151622 + 1580863;6480464;6907045 22522442;1599432;18977241;18321953;17847007;17601350;16604191;15936278;15489334;15231748;14759258;12754272;12477932;12107410;11147971;10516435;8889548;14751250;20395441;17082820;9553041;17207965;21625540;21139048;21890473;21906983;21987572;19285159;22190034 3300 C9J1G2;C9JRD2;C9JX00;C9JXB9;E7ETU0;P25686;Q53QD7 ABBA01023843;AC114803;AK289626;AK292761;AK293888;AK296297;AK312723;AL547521;AMYH01011507;BC011609;BC040494;BC047056;BF795662;BM689272;BT007088;BX420085;BX478051;CA392563;CH471063;NG_029553;NM_001039550;NM_006736;S37374;S37375;X63368 AAA09034;AAA09035;AAH11609;AAH47056;AAP35751;AAY24037;ACE86496;ACE87177;ACT64564;ACT64565;ADQ31626;BAF82315;BAF85450;BAG35597;BAG57277;BAG58998;CAA44968;CAA44969;EAW70722;EAW70723;NP_001034639;NP_006727;P25686 Hs.77768 1788016;2155428 Cda0vf12;G67373 DSMA5;HSJ-1;HSJ1;HSPF3 HSJ-1;OTTHUMP00000164174;OTTHUMP00000205873;OTTHUMP00000205874;OTTHUMP00000205877;OTTHUMP00000205878;dnaJ homolog subfamily B member 2;dnaJ protein homolog 1;heat shock 40 kDa protein 3;heat shock protein J1;heat shock protein, neuronal DNAJ-like 1 APPROVED protein-coding ENSG00000135924 5228 07249 604139;614881 REVIEWED 1343992 DNAJB8 DnaJ (Hsp40) homolog, subfamily B, member 8 The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012] 3 3 3 q21.3 126609282 126614086 - 129663972 129668781 - 128181275 128186091 - 1580863;6480464 15489334;12477932;11147971;20159555;17207965;20556630;22552285 165721 Q8NHS0 ABBA01020896;AC080005;AI188219;AK125946;AK126068;AMYH01013462;BC029521;BC050288;CH471052;HC006932;HC044703;NM_153330 AAH29521;AAH50288;ADQ32829;BAG54269;BAG54285;CBH19271;CBH30681;EAW79320;NP_699161;Q8NHS0 Hs.518241 1681322;2110369 DNAJB8_8151;RH92427 DJ6;MGC33884 DnaJ homolog, subfamily B, member 8;OTTHUMP00000216243;OTTHUMP00000216244;dnaJ homolog subfamily B member 8 APPROVED protein-coding ENSG00000179407 23699 06684;09921 611337 REVIEWED 1349519 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 7 7 q36.3 156822471 156902894 + 157129710 157210133 + 1580863;6480464;7240710 11896048;10954706;18373498;18328103;18184612;17081983;16381901;16260608;15489336;15489334;15342353;15182641;14702039;12974469;12853948;12690205;12477932;12069690;11230166;11147971;11076863;10319584;8125298;21145461;20308539;11256614;16919237;19002655;20159555;18029348;20522561;20372789;18163532;21832049;16196087;17314511;21139048;21890473;21906983;18457437;18624398;20301582;22334415;22455953;22366786;22504047;21963094;21988832;23000965;23133382;22710984;22505724 10049 B4DN73;C9J2C4;C9J2P2;C9JB42;C9JDR7;C9JDX6;C9JN01;E9PH18;F8WCZ4;Q9UIK6 AACC02000068;AB014888;AB015798;AB015799;AB209859;ABBA01032352;ABBA01032353;ABBA01032354;AC006372;AC079306;AF060703;AF075601;AK055429;AK093837;AK124827;AK223601;AK291953;AK293025;AK297497;AK297796;AK297989;AK301152;AL136707;AL832124;AMYH01018191;AMYH01018192;BC000177;BC002446;BC018175;BC043270;BC110289;CH236954;CH471149;CR533498;EU075177;NG_032573;NM_005494;NM_058246 AAD43194;AAF21257;AAH00177;AAH02446;AAH43270;AAS07392;AAS07393;AAS07521;ABU54861;BAA32209;BAA88769;BAA88770;BAD93096;BAD97321;BAF84642;BAF85714;BAG59911;BAG60135;BAG60297;BAG62743;CAB66642;CAG38529;CAL37426;CAL37619;CAL38226;EAL23923;EAL23924;EAX04570;EAX04571;NP_005485;NP_490647;O75190 Hs.490745 1644789;1646047;2121830;2151709;5107763;5113061;5124493 Bda72a07;GDB:4585419;L17763;RH24939;RH27398;RH35810;STS-AA025061 DJ4;DKFZp566D0824;DnaJ;FLJ42837;HHDJ1;HSJ-2;HSJ2;LGMD1E;MGC1152;MGC117297;MRJ;MSJ-1 DnaJ-like 2 protein;OTTHUMP00000211814;OTTHUMP00000211815;OTTHUMP00000211816;OTTHUMP00000211817;OTTHUMP00000211818;OTTHUMP00000211824;OTTHUMP00000211826;dnaJ homolog subfamily B member 6;heat shock protein J2 APPROVED protein-coding ENSG00000105993 14888 07107 603511;611332 REVIEWED 737476 DNAJB9 DnaJ (Hsp40) homolog, subfamily B, member 9 This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010] 7 7 q31 107997592 108002530 + 108210189 108215294 + 1580863;6480464 11256614;18400946;16169070;15489334;15456888;14702039;14516790;12975309;12690205;12477932;11836248;11525638;11230166;11147971;11042152;9533036;19815549;12356756;12581160;14559994;15882996;16205636;16344560;17132139;17936241;18431251;19123479;20054003;20335527;20554776;21906983;22006218;19322201;20682791 4189 Q6FIF1;Q9UBS3 AACC02000004;AB026908;ABBA01057890;AC005058;AC005487;AF083247;AF093824;AK092204;AL080081;AMYH01017839;AY359045;BC028912;CH236947;CH471070;CQ834856;CR533475;DA202575;NM_012328 AAD08848;AAD39845;AAH28912;AAP97220;AAQ89404;ABM85902;ABW03749;ACE86565;ACE87247;BAA84703;BAG52496;CAB45701;CAG38506;CAH05643;EAL24382;EAW83438;EAW83439;EAW83440;EAW83441;NP_036460;Q9UBS3 Hs.732494;Hs.741182 1653837;1698776;2162861;2217270 D7S2648;DNAJB9_4015;RH102951;RH69836 DKFZp564F1862;ERdj4;MDG-1;MDG1;MST049;MSTP049 OTTHUMP00000206840;dnaJ homolog subfamily B member 9;dnaj homolog, subfamily b, member 9;endoplasmic reticulum DnaJ homolog 4;mdg-1;microvascular endothelial differentiation gene 1 protein APPROVED protein-coding ENSG00000128590 6968 07047 602634 REVIEWED 1318035 DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 10 10 10 p12.31 21733220 21980371 - 22085483 22332656 - 22045477 22292650 - 1580863;6480464;6907045 14668352;16271702;15489334;15164054;14702039;14667819;12477932;10777498;16385451;18029348;22412018;23535730 64215 H0Y5E9;Q5T1X2;Q96KC8 ABBA01034483;ABBA01034484;ABBA01034485;ABBA01034486;ABBA01034487;ABBA01034488;AF427142;AK026062;AK027263;AK308369;AL359697;AL445431;AMYH01002175;AMYH01002176;AMYH01002177;AMYH01002178;AMYH01002179;AY225122;BC014436;BC030955;BC110894;BC139752;CH471072;EF444973;NM_022365 AAI10895;AAI39753;AAL24046;AAP50497;ACA05976;ACA05977;ACA05978;ACA05979;BAB15343;BAB55004;EAW86160;NP_071760;Q96KC8 Hs.499000 1337817;1654245;1670104;1686863;1778915;2118551;2125501;2131390;2150937;2168935;2177560 D10S1734;D10S2405;G17496;RH17498;RH44689;RH81095;SGC32110;SGC33575;SGC35686;SHGC-3893;WI-21812 DNAJL1;ERdj1;HTJ1;MGC131954;MTJ1 DnaJ-like protein;OTTHUMP00000019282;dnaJ homolog subfamily C member 1;dnaJ protein homolog MTJ1 protein-coding ENSG00000136770 20090 09922 611207 PROVISIONAL 1602472 DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 62831293 62872817 - 69226433 69267943 - 69556427 69597937 - 6480464 17373700;16391838;15489334;15164054;12477932;10760603;16712791;16385451;21832049;22939629 56521 Q6IAH1;Q9UKB3 ABBA01019548;ABBA01019549;AF176012;AF176013;AK289537;AL133551;AMYH01002794;BC017018;CB121724;CH471083;CR457184;NM_021800;NM_201262 AAD52650;AAD52651;AAH17018;BAF82226;CAG33465;EAW54255;EAW54256;EAW54257;NP_068572;NP_957714;Q9UKB3 Hs.260720 1659851;1665811;2138531;2171532;2218500;5092644 A005L41;DNAJC12__3656;G32236;HSC2FE022;SHGC-37102;STS-T95268 JDP1;RP11-57G10.2 J domain containing protein 1 (JDP1);J domain protein 1;OTTHUMP00000019689;OTTHUMP00000019690;dnaJ homolog subfamily C member 12;j domain-containing protein 1 APPROVED protein-coding ENSG00000108176 28908 06930 606060 REVIEWED 1317094 DNAJC11 DnaJ (Hsp40) homolog, subfamily C, member 11 1 1 1 p36.31 5808085 5875829 - 6616818 6684460 - 6694228 6761966 - 6480464 17624330;17222547;16710414;15489334;14702039;12964007;12477932;9110174;8619474;19808946;20877624;17207965;21900206;21987572;22114354;21139048;21890473;21906983 55735 B1AK20;B4DGD5;F5H1N1;Q5TH61;Q9NVH1;Q9UMU8 ABBA01035460;ABBA01035461;AF052158;AF306694;AF306695;AF306696;AK001599;AK025491;AK093709;AK095386;AK294539;AK298378;AL031447;AL109978;AL159177;AL833841;AMYH01000217;AY336749;BC006086;BC008772;BC014145;CH471130;DB461237;NM_018198 AAH06086;AAH08772;AAH14145;AAR02411;ADQ32081;BAA91780;BAG53038;BAG57746;BAG60614;CAB53376;CAD38701;EAW71570;EAW71571;EAW71572;NP_060668;Q9NVH1 Hs.462640 1336657;1646894;1673526;1684896;1692782;1725655;1732802;2142101;2167219;5093094 A009F43;AL033625;D1S1257;D1S2731;G32516;G62036;RH36717;SHGC-57899;SHGC-74158;SHGC-74159 FLJ10737;RP1-126A5.3;dJ126A5.1 OTTHUMP00000001585;OTTHUMP00000001586;dnaJ homolog subfamily C member 11;novel DnaJ domain-containing protein protein-coding ENSG00000007923 25570 07112 614827 VALIDATED 1317224 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 2 2 2 q32.1 177177237 177239498 + 183289244 183351500 + 183580999 183643255 + 1580863;6480464;6907045 19122239;18653895;18400946;16303743;16189514;15815621;15489334;14702039;14587667;12975309;12477932;12446677;12411443;17353921;20347046;21145461;21266254;21329881;21632540;22229892;19815549;19706418;21139048;21890473;21906983;22354994;21628590;16344560;23192594;22797925 54431 E7EP04;H7C1G0;Q3B7W8;Q96K38 AA651917;ABBA01062301;AC073951;AC105396;AF038503;AF314529;AF490904;AK027450;AK027647;AK027696;AK027701;AK074905;AK298138;AL137648;AL832267;AL832632;AL832646;AMYH01011318;AMYH01011319;AY010234;AY089971;AY358577;BC034713;BC070034;BC107425;BC117299;BC126168;CH471058;DA106532;NM_001271581;NM_018981;NR_073365;NR_073366;NR_073367 AAG32626;AAH34713;AAI07426;AAI17300;AAI26169;AAM09527;AAM09954;AAN73271;AAQ14565;AAQ88940;AAX88931;AAY24240;ADR83268;ADR83402;BAB55121;BAB55263;BAB55304;BAC11281;BAG51367;BAG60416;CAB70858;CAD89982;EAX10959;EAX10960;EAX10961;EAX10962;EAX10963;EAX10964;NP_001258510;NP_061854;Q8IXB1 Hs.516632;Hs.744512 1646438;1682117;1685884;1700902;1752217;1935040;2134106 D2S1993;REN38353;RH104078;RH48757;RH92924;SHGC-106137;WI-13407 DKFZp434J1813;ERdj5;JPDI;MGC104194;MTHr;PDIA19 ER-resident protein ERdj5;J-domain-containing protein disulfide isomerase-like protein;MTHr;OTTHUMP00000205317;dnaJ homolog subfamily C member 10;macrothioredoxin;protein disulfide isomerase family A, member 19 protein-coding 24637 09722 607987 REVIEWED 1317589 DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 3 3 3 q22.1 130562832 130684152 + 133619243 133740566 + 132136553 132257876 + 6480464 18307993;18256511;16179350;15489334;15302935;15051737;14702039;12477932;12438707;9734811;21145461;15538384;21674799;15840729;21900206;21139048;21906983;22507240;19874558 23317 H0Y8Q2;H0YA63;Q9BWK9 AB014578;ABBA01059185;ABBA01059186;AC020632;AC020633;AC026374;AI189887;AK023168;AK098729;AK125330;AK127112;AMYH01013501;AMYH01013502;AY369172;AY779857;BC000164;BC009630;BC033782;BC040638;BC043583;BC065756;BC105580;BC151246;CH471052;NM_015268 AAH00164;AAH09630;AAH40638;AAH43583;AAI05581;AAI51247;AAQ57271;AAV41096;BAA31653;BAC05394;BAC86133;BAC86835;BAG51164;EAW79198;EAW79199;NP_056083;O75165 Hs.12707 1699734;2121437;2127405;2168841;2217272 A006Y18;DNAJC13_3796;RH103473;SHGC-77348;SHGC-77351 FLJ25863;KIAA0678;RME8 DnaJ domain-containing protein RME-8;OTTHUMP00000216167;RME-8;dnaJ homolog subfamily C member 13;required for receptor-mediated endocytosis 8 protein-coding ENSG00000138246 30343 10915 614334 VALIDATED 7240884 DNAJC19P1 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 1 100129853 ABBA01019549;AL133551;AMYH01002794;NG_030118 pseudo 45064 INFERRED 7240858 DNAJC19P2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 2 100861445 ABBA01040811;AC005955;AMYH01009820;NG_032014 pseudo 45065 INFERRED 7240965 DNAJC19P3 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 3 100861443 ABBA01040811;AC005794;AMYH01009820;NG_032013 pseudo 45066 INFERRED 7240986 DNAJC19P5 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 5 100861453 ABBA01062230;AC079305;AMYH01011297;NG_032016 pseudo 45068 INFERRED 7240987 DNAJC19P6 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 6 100861449 ABBA01040537;AL158813;AMYH01016503;NG_032015 pseudo 45069 INFERRED 7240963 DNAJC19P7 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 7 100861458 ABBA01074777;AC105754;AMYH01000619;NG_032018 pseudo 45070 INFERRED 7240885 DNAJC19P8 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 8 100861455 ABBA01047175;AL592103;AMYH01001898;NG_032017 pseudo 45071 INFERRED 1316177 DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 13 13 13 q14.1 24653551 24739491 + 42495362 42581306 + 43597362 43683306 + 6480464 18029348;18324624;17283040;16049974;15489334;15057823;14729589;12477932;11358853;19734545;20877624;19322201 29103 Q9Y5T4 ABBA01021247;AF126743;AK311866;AL445217;AMYH01005077;AY248898;AY512565;BC010910;BC095400;CA444534;CH471075;NM_013238 AAD38506;AAH10910;AAH95400;AAP20049;AAS80157;ADZ15771;BAG34807;EAX08688;NP_037370;Q9Y5T4 Hs.438830 1649078;1703982;1751429;2142974;2167033;2182285;2184196 G29207;SHGC-105249;SHGC-77765;STS-N30720;STS-N40997;STS-T93515;WI-10462 DNAJD1;HSD18;MCJ DNAJ domain-containing;DnaJ (Hsp40) homolog, subfamily D, member 1;OTTHUMP00000018329;cell growth-inhibiting gene 22 protein;dnaJ homolog subfamily C member 15;methylation-controlled J protein protein-coding ENSG00000120675 20325 13238 615339 VALIDATED 7240976 DNAJC19P9 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 9 644589 ABBA01018053;AL133501;AMYH01005702;NG_030241 1682171;2128273;5019845 G34972;RH66895;RH68261 pseudo 45072 INFERRED 1349604 DNAJC14 DnaJ (Hsp40) homolog, subfamily C, member 14 12 12 12 q13.2 55867105 55875783 - 54501011 54509687 - 56214744 56223420 - 632650;6480464 11331877 16344560;15489334;14993367;14702039;12768437;12477932;12446598;11984006;11181995;22815758;21249176;19322201;18029348;22915803 85406 F8VNT6;F8VYY5;Q6Y2X3 ABBA01008390;AC023055;AF141342;AF351784;AK055945;AK057354;AK123025;AK291222;AMYH01004497;AY188447;BC080655;BC117146;BC117148;CH471054;DA127901;EF560741;NM_032364 AAG49445;AAH80655;AAI17147;AAI17149;AAK56241;AAO73451;ABQ59051;ADR83105;ADR83341;BAB71050;BAB71445;BAF83911;BAG53854;EAW96832;EAW96833;EAW96834;EAW96835;EAW96836;EAW96837;EAW96839;NP_115740;Q6Y2X3 Hs.709320 1654650;1669149;1719687;5015619;5015861;5017266;5022576;5024039;5037552;7185938 D10S16;D11S3114;D16S325;D1S1361;D8S2279;L18506;RH123532;SGC32784;SHGC-64831 DNAJ;DRIP78;HDJ3;LIP6 LYST-interacting protein LIP6;OTTHUMP00000243776;OTTHUMP00000243777;dnaJ homolog subfamily C member 14;dnaJ protein homolog 3;dopamine receptor interacting protein;dopamine receptor-interacting protein of 78 kDa;hDj-3;human DnaJ protein 3 protein-coding ENSG00000135392 24581 12082 606092 VALIDATED 1603691 DNAJC16 DnaJ (Hsp40) homolog, subfamily C, member 16 1 1 1 p36.1 14336224 14381093 + 15725939 15770814 + 15853352 15898228 + 6480464 16710414;15489334;14702039;12477932;12168954;10231032;19773279;16751776;21906983 23341 H0YCM8;Q5TDG9;Q5TDH4;Q9Y2G8 AB023179;ABBA01004707;ABBA01004708;AK022530;AK023805;AK091848;AK292479;AL121992;AL137715;AL512883;AL833299;AMYH01000272;AMYH01000273;AMYH01000274;BC031991;BC047363;BX648982;CH471167;CR749259;CR749567;NM_015291 AAH31991;AAH47363;ADZ15616;BAA76806;BAF85168;BAG51085;BAG51224;BAG52425;CAH18115;CAH18363;EAW51732;EAW51733;EAW51734;NP_056106;Q9Y2G8 Hs.655410 1339409;1654060;1661373;1699454;1703218;1735958;1758971;2120154;2151890;2163113;2168554;2175768;5037552 D1S1942E;D1S436;D8S2279;RH103318;RH70283;SGC32451;SHGC-1541;SHGC-32561;SHGC-33042;SHGC-64014;SHGC-74257;SHGC-74260;SHGC-74263 DKFZp686G1298;DKFZp686N0387;DKFZp781I1547;KIAA0962;RP4-680D5.1 OTTHUMP00000002468;OTTHUMP00000002469;OTTHUMP00000002470;OTTHUMP00000002471;dnaJ homolog subfamily C member 16;novel DnaJ domain-containing protein protein-coding ENSG00000116138 29157 17202 PROVISIONAL 1602696 DNAJC17 DnaJ (Hsp40) homolog, subfamily C, member 17 15 15 15 q15.1 17827960 17867572 - 38847363 38886947 - 41060067 41099676 - 6480464 17081983;15489334;14702039;12477932;16344560;19913121;20628086;21139048;21890473 55192 H0YK99;H0YLQ7;H0YLV4;Q9NVM6 AA834211;ABBA01038431;ABBA01038432;AC012476;AK001496;AK308659;AK308858;AK309307;AK310140;AMYH01006566;BC000048;CH471125;DA341962;NM_018163 AAH00048;BAA91724;EAW92444;EAW92445;NP_060633;Q9NVM6 Hs.511069 2131151 SHGC-56869 FLJ10634 OTTHUMP00000160542;dnaJ homolog subfamily C member 17 protein-coding ENSG00000104129 25556 07111 VALIDATED 1602641 DNAJC18 DnaJ (Hsp40) homolog, subfamily C, member 18 5 5 5 q31.2 134865984 134895485 - 138775279 138803038 - 138745892 138775214 - 6480464 18676680;15489334;14702039;12477932;16344560;8889548;19170196;19240791;19625176;19692168;17207965 202052 D6RB03;D6RB44;D6RCS7;D6REJ9;D6RHF6;H0Y9V6;H0YA78;Q9H819 ABBA01068638;AC142391;AK001329;AK308138;AMYH01015651;BC030162;BU735127;CH471062;DA497858;NM_152686 AAH30162;ADQ32259;EAW62102;NP_689899;Q9H819 Hs.483537 1662133;1666149;1780666;2170953;2177615;2179609;5017433;5022578 D1S1423;IB2038;IB372;RH48304;RH66310;STS-T76997;T03718;bac51556S MGC29463 OTTHUMP00000224292;dnaJ homolog subfamily C member 18 protein-coding ENSG00000170464 28429 07130 VALIDATED 1602458 DNAJC22 DnaJ (Hsp40) homolog, subfamily C, member 22 12 12 12 q13.12 48534339 48538995 + 48027308 48031964 + 49741041 49745697 + 6480464 17558392;14702039;12477932;21906983 79962 Q8N4W6 ABBA01031522;AC125611;AK055747;AMYH01004442;BC033236;CH471111;NM_024902 AAH33236;BAG51566;EAW58066;EAW58067;NP_079178;Q8N4W6 Hs.659300 1700510;1746647;5022578;5037552;5109281 D1S1423;D1S1425;D8S2279;G64403;RH103876 FLJ13236;wus OTTHUMP00000241256;OTTHUMP00000241257;dnaJ homolog subfamily C member 22;wurst homolog protein-coding ENSG00000178401 25802 08580 PROVISIONAL 1350551 DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] 11 11 11 p13 31538800 31601804 + 31347953 31410958 + 31391377 31454382 + 737633;6480464 12477932 15489334;15485916;14702039;22509046;22367199 120526 D3DQZ6;E9PID3;E9PRW3;H0YCV1;I6L9B4;J3KPT8;Q6P3W2 ABBA01060927;ABBA01060928;ABBA01060929;AC108456;AK123087;AK289665;AL050199;AL137804;AL833128;AMYH01003474;AMYH01003475;AMYH01003476;BC036571;BC044931;BC063804;CD685768;CH471064;NM_181706 AAH36571;AAH63804;BAF82354;EAW68241;EAW68242;EAW68243;EAW68244;EAW68245;EAW68246;EAW68247;NP_859057;Q6P3W2 Hs.187269;Hs.741895 1685397;1748993;2165693 RH92771;SHGC-110629;WI-13900 DPH4;JJJ3;ZCSL3 1700030A21Rik;CSL-type zinc finger-containing protein 3;DPH4 homolog (JJJ3, S. cerevisiae);DPH4, JJJ3 homolog;DPH4, JJJ3 homolog (S. cerevisiae);OTTHUMP00000165107;dnaJ homolog subfamily C member 24;zinc finger, CSL-type containing 3 APPROVED protein-coding 26979 15705 611072 VALIDATED 6480326 DNAJC27-AS1 DNAJC27 antisense RNA 1 2 p23.3 25194981 25262563 + 16344560 729723 ABBA01045126;ABBA01045127;ABBA01045128;ABBA01045129;ABBA01045130;AC013267;AMYH01010176;AMYH01010177;CR933670;DA314471;NR_034113 Hs.436366 1848718;5016478;5020274;5022463;5037552;5109281 D1S1425;D3S1673;D8S2279;G16395;GDB:434012;L18441 APPROVED miscrna ENSG00000224165 42943 VALIDATED 1603908 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012] 3 3 3 q26.33 179133934 179140000 - 182184197 182190224 - 180701497 180707562 - 6480464;7240710 16055927;12592411;17244376;15489334;14517234;12477932;10737800;8889548;16712791;16344560;19564938;20053669;21832049;22939629;21139048;21890473;22797137;22544056 131118 F2Z3A7;G5E9V2;Q96DA6 AA775489;ABBA01058512;AC008009;AI268262;AK307097;AK309019;AK311765;AMYH01013696;AW161751;AW207852;BC009702;BC073989;BE773017;BF666599;BG492744;BM701756;BM702203;BQ438379;BU685935;CB052107;CB054787;CB159371;CH471052;DA158066;NG_022933;NM_001190233;NM_145261;NR_033721;NR_033722;NR_033723;NR_046073 AAH09702;AAH73989;ADZ15986;BAG34708;EAW78358;EAW78359;EAW78360;EAW78361;EAW78362;EAW78363;EAW78364;NP_001177162;NP_660304;Q96DA6 Hs.230601 1682171;2115049;2128273;2135080;2169900;5019845;5494136 Bda17b07;G34972;RH130227;RH66895;RH68261;SHGC-77577;SHGC-77587 FLJ99060;Pam18;TIM14;TIMM14 OTTHUMP00000212659;OTTHUMP00000212660;OTTHUMP00000212661;OTTHUMP00000212662;OTTHUMP00000212663;homolog of yeast TIM14;mitochondrial import inner membrane translocase subunit TIM14 APPROVED protein-coding ENSG00000205981 30528 12349 608977;610198 REVIEWED 734039 DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21 5 5 5 p13.2 34811930 34841301 + 34965455 34994826 + 34929698 34959069 + 6480464 18654987;17081983;15489334;15067379;14702039;12477932;21145461;16952052;22566498;21139048 134218 Q5F1R6 ABBA01039261;ABBA01039262;ABBA01039263;AC008795;AC026801;AK022694;AK054651;AK127749;AMYH01015023;AY177688;AY258422;BC050472;BC065745;BC107577;BX648765;CH471119;CS300535;NM_001012339;NM_194283 AAH50472;AAH65745;AAI07578;AAI41524;AAO46910;AAP81807;BAC87112;CAK32199;EAW55911;NP_001012339;NP_919259;Q5F1R6 Hs.131887 1335880;1680924;1713947;1735466;1851856;5014051;5015619;5016008;5020948;5021872;5022200;5037552;7186235 D11S3114;D5S1589E;D5S493;D8S2278;D8S2279;G35510;L18426;NM_194283;RH119402;RH45242;RH48468;sY3084 DNAJA5;GS3;JJJ1 DnaJ homology subfamily A member 5;GS3 protein;JJJ1 DnaJ domain protein homolog;OTTHUMP00000082746;OTTHUMP00000082747;dnaJ homolog subfamily A member 5;dnaJ homolog subfamily C member 21;putative regulation protein gs3 protein-coding ENSG00000168724 27030 14056 VALIDATED 5130588 DNAJC3-AS1 DNAJC3 antisense RNA 1 (head to head) 13 13 q32.1 77172882 77176956 - 96325089 96329161 - 100289274 ABBA01027182;AL138955;AMYH01005305;XR_109147;XR_111404;XR_172013 APPROVED miscrna ENSG00000247400 39808 MODEL 733241 DNAJC2 DnaJ (Hsp40) homolog, subfamily C, member 2 This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 q22 102740157 102772556 - 102952921 102985320 - 1580863;6480464 18399720;17081983;16344560;16002468;15802566;14702039;14696097;12800198;12477932;11034098;8885239;22433847;18029348;21179169;21139048;21906983;20231810;22733129 27000 C9IZ83;F2Z3H0;F2Z3N9;H7C3L7;Q99543 ABBA01057988;ABBA01057989;ABBA01057990;ABBA01057991;AC004668;AI621015;AK126382;AL832847;AMYH01017812;BC000859;BC012376;BC032854;BC046351;BC056682;BC062703;BC125057;BC139751;CH471070;DA272314;DA691752;NM_001129887;NM_014377;X98260 AAH00859;AAH62703;AAI25058;AAI39752;AAI60045;CAA66913;EAW83329;EAW83330;NP_001123359;NP_055192;Q99543 Hs.558476 1700688;1770441;1854479;2151274;2169517;5015861;5015961;5037552;5107155;5123108;5491539;7185938 D10S16;D15S1477;D8S2279;G67883;MARC_17457-17458:1023121715:1;RH103967;RH71304;SGC32790;SHGC-54619;STS-W90638;WI-14926 MPHOSPH11;MPP11;ZRF1;ZUO1 M-phase phosphoprotein 11;OTTHUMP00000211690;OTTHUMP00000211691;dnaJ homolog subfamily C member 2;zuotin related factor 1;zuotin related factor 2;zuotin-related factor 1 APPROVED protein-coding ENSG00000105821 13192 605502 REVIEWED 1603327 DNAJC25 DnaJ (Hsp40) homolog, subfamily C , member 25 9 9 9 q31.3 84892702 84915694 + 113433453 113456452 + 114393632 114416631 + 6480464 14702039;12477932 548645 F2Z3D1;J3QR79;Q9H1X3 ABBA01042726;ABBA01042727;AF447177;AK095452;AL135787;AMYH01021642;AMYH01021643;AW629467;BC048318;CH471105;DR004317;NM_001015882;NR_037148 AAH48318;AAQ04643;BAG53057;EAW59085;NP_001015882;Q9H1X3 Hs.534196 2160642 RH65734 bA16L21.2.1 DnaJ-like protein;OTTHUMP00000081796;dnaJ homolog subfamily C member 25 protein-coding ENSG00000059769 34187 18685 VALIDATED 1602712 DNAJC27 DnaJ (Hsp40) homolog, subfamily C, member 27 2 2 2 p23.3 25006881 25035200 - 25020009 25048328 - 25166505 25194963 - 6480464 18391951;14980719;12477932;9564038;20877624;20935630;21980299;22344219;20881960;23449627 51277 F5GY94;Q9NZQ0 ABBA01045125;ABBA01045126;AC012073;AC013267;AF178983;AK294726;AL117490;AL137731;AMYH01010176;AY094594;BC034049;BK001284;CH471053;NM_001198559;NM_016544 AAF44347;AAH34049;AAM22521;AAX93052;AAY14788;BAG57873;CAI46214;DAA01323;EAX00735;EAX00736;EAX00737;EAX00738;NP_001185488;NP_057628;Q9NZQ0 Hs.434993 1846783;2118753;2151118;2178023 A006O37;RH68365;SHGC-31106;WI-21502 DKFZp434N211;RBJ;RabJS OTTHUMP00000155184;Ras-associated protein Rap1;dnaJ homolog subfamily C member 27;rab and DnaJ domain containing;rab and DnaJ domain-containing protein protein-coding ENSG00000115137 30290 15221 613527 VALIDATED 1348913 DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta 8 8 8 q13.1 62925510 63004473 + 67096345 67175309 + 66933791 67012755 + 737633;1580863;6480464;6907045 12477932 17034881;15489334;17207965;22666496;22174851;22318606 85479 E5RGF4;Q9UF47 ABBA01041869;AC084082;AF368276;AL133660;AMYH01018771;AMYH01018772;BC016742;BG701336;BU627018;CH471068;NM_033105 AAH16742;AAK60571;ADQ32825;CAB63773;EAW86887;EAW86888;EAW86889;NP_149096;Q9UF47 Hs.491885 1337622;1339852;5021872;5022200;5037552;7184473 D8S2279;D8S533;D8S553;L18426;sY3084 CSP-beta;MGC26226 OTTHUMP00000226780;beta cysteine string protein;beta-CSP;cysteine string protein beta;dnaJ homolog subfamily C member 5B;dnaJ homolog subfamily C member X protein-coding ENSG00000147570 24138 07474 613945 VALIDATED 1606057 DNAJC25-GNG10 DNAJC25-GNG10 readthrough This gene represents naturally-occurring mRNAs that are co-transcribed products of the neighboring DNAJC25 and GNG10 genes. These transcripts include the first exon of DNAJC25 and the last two exons of GNG10, resulting in a protein that combines the N-terminus of DNAJC25 and the C-terminus of GNG10. [provided by RefSeq, Dec 2008] 9 9 9 q31.3 84892736 84931567 + 113433487 113472330 + 114393632 114432526 + 6480464 12477932;14702039;15164053;15489334;20967262;8889548 552891 Q9H1X3 ABBA01042726;ABBA01042727;AL135787;AMYH01021642;AMYH01021643;BC015391;BT007068;BU675931;CH471105;NM_004125 AAH15391;AAP35731;ABM82436;ABM85627;EAW59082;EAW59086;NP_004116 Hs.534196 1678519;1777999;2140839;2160642;2179316;5019637 D9S949;G32289;RH12061;RH65734;RH66959;WI-17453 DNAJC25-GNG10 protein;DNAJC25-GNG10 readthrough transcript;OTTHUMP00000021913 APPROVED protein-coding ENSG00000059769;ENSG00000244115 37501 10374 VALIDATED 1347817 DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010] 13 13 q32.1 95127484 95241285 + 96329393 96447243 + 1580863;6480464;6907045 7511204;8666242;18568130;15489334;15057823;12601012;12477932;12446838;12034040;11991713;11939789;11526399;11147971;9920933;9447982;8824808;8824806;8576172;11116152;20554776;20237496;21799829;21139048;21906983;22064321;21963094;22190034 5611 A8KA82;Q13217 AA430108;ABBA01027176;ABBA01027177;ABBA01027178;ABBA01027179;ABBA01027180;ABBA01027181;ABBA01027182;AF339773;AF339835;AK024941;AK292947;AK312861;AL136104;AL138955;AMYH01005305;AMYH01005306;AMYH01005307;AY795482;BC033823;BC047936;CH471085;NM_006260 AAH47936;AAV40838;BAF85636;BAG35713;EAX08959;NP_006251;Q13217 Hs.59214 1672252;1693690;1696958;1737499;1775284;1789825;1789827;1789829;1789831;1789833;1854886;1855567;2185618;5015959 A008Q12;D10S2448;D13S1038;RH101951;RH45059;SHGC-2965;SHGC-58612;WI-13942;WI-17122;csnpdnajc3-pcr13-1;csnpdnajc3-pcr3-1;csnpdnajc3-pcr4-1;csnpdnajc3-pcr6-1;csnpdnajc3-pcr8-1 ERdj6;FLJ21288;HP58;P58;P58IPK;PRKRI OTTHUMP00000018567;dnaJ homolog subfamily C member 3;endoplasmic reticulum DnaJ protein 6;interferon-induced, double-stranded RNA-activated protein kinase inhibitor;protein kinase inhibitor of 58 kDa;protein kinase inhibitor p58;protein-kinase, interferon-inducible double stranded RNA dependent inhibitor APPROVED protein-coding ENSG00000102580 9439 03114 601184 REVIEWED 1353353 DNAJC28 DnaJ (Hsp40) homolog, subfamily C, member 28 21 21 21 q22.11 20059872 20063657 - 33782108 33785893 - 34860238 34864023 - 6480464 16344560;15489334;14702039;12477932;12036298;10830953;8125298;21906983;21900206 54943 Q9NX36 ABBA01057345;ABBA01057346;AC207981;AF462153;AK000468;AK225514;AMYH01012211;AP000302;BC029509;CH471079;DA234338;DA249316;NM_001040192;NM_017833 AAI56695;AAL59618;BAA91185;EAX09830;EAX09831;NP_001035282;NP_060303;Q9NX36 Hs.458308 1697784;1697874;1808238;1810684;1820052;1829994;1846436;2028898;2028900;2028902;2028904;2028906;2028908;2028910;2028912;2028914;2028916;2028918;2028920;2028922;2028924;2028926;2028928;2028930;2028932;2028934;2028936;2101296;2101298;2101300 ECD05100;ECD06336;ECD11098;ECD16130;ECD24438;REN85453;REN85454;REN85455;REN85456;REN85457;REN85458;REN85459;REN85460;REN85461;REN85462;REN85463;REN85464;REN85465;REN85466;REN85467;REN85468;REN85469;REN85470;REN85471;REN85472;RH102416;RH102465;stSG607208;stSG607209;stSG607210 C21orf55;C21orf78 OTTHUMP00000068156;OTTHUMP00000068157;OTTHUMP00000197911;dnaJ homolog subfamily C member 28 protein-coding ENSG00000177692 1297 10752 VALIDATED 1318614 DNAJC4 DnaJ (Hsp40) homolog, subfamily C, member 4 11 11 11 q13 61324605 61328604 + 63754512 63758329 + 63997753 64001753 + 1580863;6480464 9473517;15489334;12477932;11147971;20237496;20877624;17207965;20029029;19913121;20628086;21832049 3338 G3V1T1;H0YGV0;J3KNJ8;Q96FY5;Q9NNZ3 AA504260;ABBA01003290;AF012106;AF036874;AMYH01003702;AP001453;AP006334;BC010145;BC032137;BC044584;BC051008;BC053947;BC057849;BI561130;CH471076;NG_029823;NM_005528 AAB82426;AAF97845;AAH10145;AAH32137;AAH44584;AAH51008;AAH57849;ADQ32522;EAW74212;EAW74213;EAW74214;EAW74215;EAW74216;EAW74217;EAW74218;EAW74219;EAW74220;NP_005519;Q9NNZ3 Hs.172847 1681255;1706624 RH79811;SHGC-82715 DANJC4;HSPF2;MCG18;MGC19482;MGC57189;MGC71863 OTTHUMP00000236875;dnaJ homolog subfamily C member 4;dnaJ-like protein HSPF2;heat shock 40kD protein 2;multiple endocrine neoplasia type 1 candidate protein number 18 protein-coding ENSG00000110011 5271 604189 VALIDATED 1351151 DNAJC8P1 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 14 14 14 q13.2 15762849 15764425 + 34968607 34970383 + 35898956 35900532 + 19773279 319111 ABBA01061504;AL133163;AMYH01005666;NG_002493 pseudo 19928 INFERRED 1348350 DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68573462 68575995 - 72733184 72735717 - 73095248 73097781 - 1580600;1580863;6480464 12073013 15489334;15231747;14702039;12853948;12477932;17207965;20877624 84277 B3KSU4;Q96LL9 ABBA01063942;AC073846;AF412025;AK058113;AK094305;AMYH01017537;BC005056;CH471200;NM_032317 AAH05056;AAM62307;AAS07471;ADQ32669;BAB71671;BAG52856;EAW69658;NP_115693;Q96LL9 Hs.647046 1673110;1721337;2107763;2135266;5037552 D8S2279;G59668;RH36134;SHGC-56098;WBSCR18__5080 MGC12943;WBSCR18 OTTHUMP00000160500;Williams Beuren syndrome chromosome region 18;dnaJ homolog subfamily C member 30;williams-Beuren syndrome chromosomal region 18 protein APPROVED protein-coding 16410 10303 REVIEWED 1344057 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010] 20 20 q13.33 61996962 62035839 + 62526455 62567384 + 1580863;6480464;6907045 16751776;19098309;18596047;18314541;16469739;15972823;15610015;15489334;14997482;14702039;14570907;12477932;12039948;11780052;11604405;11214971;10194413;8764987;18029348;20453918;21674799;22902780;22939629;21820099;21987572;2663281;3284607;21139048;21890473;21906983;22073189;22235333;21963094;23000965 80331 Q6AHX3;Q9H3Z4 ABBA01021429;ABBA01021430;ABBA01021431;ABBA01021432;ABBA01021433;AK023132;AK024508;AK074041;AK128776;AK289585;AL118506;AL137301;AMYH01012094;AMYH01012095;BC009922;BC028570;BC053642;CH471077;CR627461;DB452738;DQ596824;NG_029805;NM_025219 AAH53642;BAB15798;BAB84867;BAF82274;BAG54730;CAH10594;EAW75191;EAW75192;EAW75193;NP_079495;Q9H3Z4 Hs.164419 1681161;1688040;1689692 RH39006;RH47533;RH64138 CLN4;CLN4B;CSP;DKFZp434N1429;DKFZp761N1221;DNAJC5A;FLJ00118;FLJ13070;NCL OTTHUMP00000031609;OTTHUMP00000031610;ceroid-lipofuscinosis, neuronal 4 (Kufs disease);cysteine string protein;cysteine string protein alpha;dnaJ homolog subfamily C member 5 APPROVED protein-coding ENSG00000101152 16235 08539 162350;611203 REVIEWED 1316617 DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 2 2 2 p23.3 27344613 27350620 + 27351793 27357800 + 27498289 27504296 + 1580863;6480464;6907045 15489334;14702039;12477932 285126 B4DY29;B5MCA9;C9J078;Q8N7S2 ABBA01045199;AC013413;AF368277;AK097736;AK302239;AMYH01010195;BC035194;CH471053;HC006934;HC044673;NM_173650 AAH35194;AAK60572;AAY24295;BAC05155;BAG63591;CBH19272;CBH30666;EAX00608;EAX00609;NP_775921;Q8N7S2 Hs.116303 2110371 DNAJC5G_3736 CSP-gamma;FLJ40417 OTTHUMP00000122599;OTTHUMP00000201087;OTTHUMP00000201088;OTTHUMP00000201089;cysteine string protein-gamma;dnaJ homolog subfamily C member 5G;gamma cysteine string protein;gamma-CSP;gamma-cysteine string protein protein-coding ENSG00000163793 24844 07108 613946 PROVISIONAL 1320495 DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008] 1 1 1 p31.3 64021163 64172220 + 65503018 65654140 + 65730377 65881552 + 1580863;6480464;6907045 22647716;22563501;19165527;18489706;16710414;15489334;15342556;12477932;11470803;11147971;9455484;9455477;12732633;11031247;11252894;19851296;20198315;15502813;8524399;22216198 9829 O75061 AB007942;ABBA01074543;ABBA01074544;ABBA01074545;ABBA01074546;AC119800;AK296408;AL139294;AL355487;AMYH01000685;BC051722;BC109279;BC109280;BP311649;BQ423527;BX647203;CH471059;CR747692;DC332732;DR002818;NM_001256864;NM_001256865;NM_014787 AAH51722;AAI09280;AAI09281;BAA32318;BAH12344;EAX06533;EAX06534;EAX06535;EAX06536;EAX06537;NP_001243793;NP_001243794;NP_055602;O75061 Hs.647643 1336253;1681173;1692950;1735912;1755419;1759267;1856021;2166153;2169022;2170495;2170847;2187108;2218502 AL034190;D1S1927E;D1S2366;D1S2423;D1S2866;DNAJC6__3749;G16070;RH79652;SHGC-142296;SHGC-150970;SHGC-74914;SHGC-74940;SHGC-74946 DJC6;KIAA0473;MGC129914;MGC129915;MGC48436 DnaJ (Hsp40) homolog, subfamily B, member 6;OTTHUMP00000010633;OTTHUMP00000010634;auxilin;dnaJ homolog subfamily C member 6;putative tyrosine-protein phosphatase auxilin APPROVED protein-coding ENSG00000116675 15469 16326 608375 REVIEWED 1312781 DNAJC9 DnaJ (Hsp40) homolog, subfamily C, member 9 10 10 10 q22.2 68288205 68292648 - 74672588 74677031 - 75002582 75007025 - 1580863;6480464 21145461;14702039;11444854;10231032;17182002;12477932;19710015;20099975;20379614;19862764;21531385;22939629;19410544;21628590;21139048;21906983 23234 B2RMW6;Q8WXX5 ABBA01020332;AC016394;AF327347;AK074420;AK094162;AMYH01002827;BC136507;CH471083;NM_015190 AAI36508;AAL56008;BAB85076;BAG52832;EAW54483;EAW54484;EAW54486;NP_056005;Q8WXX5 Hs.732485 1651844;2108025;2167393;5124837 DNAJC9_8008;RH69462;SHGC-35170;STS-H83690 HDJC9;JDD1;KIAA0974;SB73 DnaJ protein SB73;OTTHUMP00000019811;dnaJ homolog subfamily C member 9 protein-coding 19123 13237 611206 PROVISIONAL 1320134 DNAL1 dynein, axonemal, light chain 1 This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 14 14 14 q24.3 54147655 54204739 + 73181455 73232950 + 74111578 74170431 + 737633;6480464;6907045 12477932 15845866;15489334;21496787;20379614;22018492;20301301 83544 G3V2M0;G3V389;G3V424;G3V5I4;H0YJD6;H0YM28;Q4LDG9 ABBA01030748;ABBA01030749;AC005225;AC006146;AF542071;AI242197;AK026653;AK315392;AL833654;AMYH01005845;AMYH01005846;BC005343;BJ996719;BQ267448;CH471061;NG_028083;NM_001201366;NM_031427 AAH05343;AAQ11377;ADZ15786;BAG37785;CAI46147;EAW81123;EAW81124;NP_001188295;NP_113615;Q4LDG9 Hs.271270 1338554;1653533;1658312;1663142;1665678;2137562;2142478;2159009;2165506;2166101;2177029;2180939;2185044;5015879;5016596;5020948;5022578;5037552;5093464;5109281;5117897 A009P18;D14S1004;D14S680E;D14S840;D1S1423;D1S1425;D8S2279;G30990;G32733;G35510;G35652;G38123;G38159;G38210;G38313;G38314;G38317;G38318;GDB:314949;GDB:631802;GDB:631813 C14orf168;CILD16;MGC12435 1700010H15RiK;OTTHUMP00000246635;OTTHUMP00000246885;axonemal dynein light chain;chromosome 14 open reading frame 168;dynein light chain 1, axonemal APPROVED protein-coding 23247 16616 610062;614017 REVIEWED 1350903 DNAJC9-AS1 DNAJC9 antisense RNA 1 10 10 q22.2 68292743 68322547 + 75007125 75036742 + 12477932;15164054;15489334 414245 A6NH13;H0Y9U1 ABBA01020331;ABBA01020332;AC016394;AL512656;AMYH01002827;BC043233;NR_038373 A6NH13 Hs.661857 1651844;1663069;1699268;1848095;2167393;5118444 D11S3316;RH103216;SHGC-35170;SHGC-64138;STS-H83690;STS-T51233 C10orf103;bA537A6.3 APPROVED miscrna ENSG00000236756 31432 VALIDATED 1314401 DNAJC8 DnaJ (Hsp40) homolog, subfamily C, member 8 1 1 1 p35.3 26922432 26955184 - 28399376 28432129 - 28526789 28559542 - 1580863;6480464 12226669;16710414;16344560;15635413;15489334;12477932;11790298;11147971;17332742;12234937;20379614;20098747;16159877;21832049;22939629;22863883;19471022;21139048;21693764;21890473;20360068;22944692 22826 O75937;Q9P1E0 ABBA01035015;ABBA01035016;ABBA01035017;AF083190;AF161433;AF161449;AK300797;AL353354;AL353622;AMYH01000427;BC033159;BX538122;CH471059;CR456900;DB294321;NM_014280 AAC35352;AAF28993;AAF29009;AAH33159;BAG62456;CAG33181;EAX07707;EAX07708;EAX07709;EAX07710;NP_055095;O75937 Hs.433540 1656362;1749421;2164374;5111096;5117210 D3S3952;GDB:451788;RH64556;SHGC-111156;SHGC-74506 HSPC331;SPF31 OTTHUMP00000003646;dnaJ homolog subfamily C member 8;splicing protein spf31 protein-coding ENSG00000126698 15470 13236 VALIDATED 1349384 DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 q11.2 36783139 36824767 - 37382006 37422956 - 40128439 40169715 - 1580863;6480464 8836031;18620420;16381901;15592455;15489336;15489334;15342556;12853476;12477932;11230166;11147971;11076863;11573955;21145461;15189447;15231748;15761153;20562859;20661446;20936779;18029348;22863883;22990118;22318606;17043677;21139048;21890473;21906983;21987572;22118674;20473970;19875381;21963094;22623428;23000965;23438482;23455922;23261415;22190034;22337587;22944692 7266 K7EIH8;K7EJ24;K7EJE9;K7EJL5;K7EJV7;K7EK03;K7ELJ8;K7EN19;K7ENB7;K7EPP7;K7EQ73;K7ER44;K7ESP1;Q99615 AB209834;ABBA01006441;ABBA01006442;AC105024;AC125257;AK291047;AK296602;AK298860;AK308016;AK316081;AMYH01008389;AMYH01008390;BC003601;BC011837;BC033772;BP378441;BQ445927;BX647209;CH471152;DB453150;NM_001144766;NM_003315;NR_029431;U46571 AAB36872;AAH03601;AAH11837;AAH33772;ABM83990;ABM87316;BAD93071;BAF83736;BAG59215;BAG60982;BAH14452;CAL38388;EAW60788;EAW60789;NP_001138238;NP_003306;Q99615 Hs.500156 1701046;1729159 G63900;RH104150 DANJC7;DJ11;DJC7;TPR2;TTC2 TPR repeat protein 2;dnaJ homolog subfamily C member 7;tetratricopeptide repeat domain 2;tetratricopeptide repeat protein 2 APPROVED protein-coding ENSG00000168259 12392 601964 REVIEWED 1319248 DNAL4 dynein, axonemal, light chain 4 DNAL4 is a component of the dynein motor complex (Iwasaki et al., 2005 [PubMed 15454493]).[supplied by OMIM, Mar 2008] 22 22 22 q13.1 22981164 22996813 - 37504459 37520107 - 39174513 39190161 - 1580863;6480464;6907045 11157096;18029348;16189514;15489334;15461802;15454493;12529303;12477932;10591208;8125298;16751776;21988832;23382691 10126 B0QXZ5;O96015;Q6FGD0 ABBA01055536;AK223349;AK290566;AL008583;AL035366;AMYH01012765;AY453399;BC002968;BT009847;BX473356;CH471095;CR456487;CR542177;CR542195;CS185552;NM_005740 AAH02968;AAP88849;AAS47516;BAD97069;BAF83255;CAA23018;CAG30373;CAG46974;CAG46992;CAJ42733;CAK54478;CAK54777;EAW60272;NP_005731;O96015 Hs.632766 1660479;2130835 D22S1550;WI-20171 PIG27 OTTHUMP00000198978;dynein light chain 4, axonemal;dynein light chain, outer arm 4;dynein, axonemal, light 4;dynein, axonemal, light polypeptide 4;proliferation-inducing gene 27;proliferation-inducing protein 27 APPROVED protein-coding ENSG00000100246 2955 13239 610565 VALIDATED 1319504 DNALI1 dynein, axonemal, light intermediate chain 1 This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008] 1 1 1 p35.1 36300508 36310446 + 37795107 37805045 + 38022520 38032458 + 1580863;6480464;6907045 9284741;16990435;16710414;15489334;12477932;8125298;16169070;20379614;17207965;21832049;19944400;15383276;21900206 7802 B4DHN6;O14645 ABBA01023273;ABBA01023274;AF006386;AI128097;AK126963;AK225935;AK290502;AK295199;AK299918;AL034379;AMYH01000501;BC039074;BC046117;BX647913;CH471059;NM_003462 AAB69193;AAH39074;AAH46117;ADQ33091;BAF83191;BAG58198;BAG61755;CAI46082;EAX07334;EAX07335;EAX07336;NP_003453;O14645 Hs.406050 1656511;2108027;2171918;5024072 DNALI1_8761;SHGC-74608;SHGC-74618;SHGC-74625 P28;dJ423B22.5;hp28 OTTHUMP00000004400;axonemal dynein light intermediate polypeptide 1;dJ423B22.5 (axonemal dynein light chain (hp28));dynein, axonemal, light intermediate polypeptide 1;inner dynein arm light chain, axonemal;inner dynein arm, homolog of clamydomonas APPROVED protein-coding ENSG00000163879 14353 03681 602135 REVIEWED 735307 DNCH2 dynein, cytoplasmic, heavy chain 2 7240710 1779 263510;263520;613091;615087 1352622 DNCM DNA associated with cytoplasmic membrane 1061086;6278420 1784 2967 126330 1607010 DNASE2B deoxyribonuclease II beta The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p22.3 83108430 83124879 + 84636803 84653279 + 84864215 84880691 + 6480464 12944971;12594037;12477932;11700027;11376952;20201924;20800603;23314748;21390259;22095909;23382691;22797925 58511 Q66K39;Q8WZ79 ABBA01045656;AF274571;AF333389;AF334602;AL359273;AMYH01000752;BC065182;BC080621;BC126136;BC126138;CH471097;NM_021233;NM_058248 AAF76893;AAH80621;AAI26137;AAI26139;AAL34448;AAL34449;ADR82973;EAW73238;EAW73239;NP_067056;NP_490649;Q8WZ79 Hs.129142 1778003 AL009630 DLAD DNase II beta;DNase II-like acid DNase;DNase2-like acid DNase;OTTHUMP00000011480;OTTHUMP00000011481;deoxyribonuclease-2-beta;endonuclease DLAD;lysosomal DNase II APPROVED protein-coding ENSG00000137976 28875 09728 608057 REVIEWED 1349489 DND1P1 dead end homolog 1 pseudogene 1 17 17 q21.31 41018375 41020592 + 43663230 43664790 + 644157 ABBA01031184;AC126544;AC127032;AC225613;AMYH01008444;NG_022468 2153148 RH66726 pseudo 31444 INFERRED 1348677 DND1P2 dead end homolog 1 pseudogene 2 17 17 17 q21.31 40982696 40983752 - 41692177 41693749 - 44336419 44337979 - 644256 ABBA01031213;AC005829;AC127032;AMYH01008443;NG_022452 pseudo 31445 INFERRED 1343662 DNASE2 deoxyribonuclease II, lysosomal This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008] 19 19 p13.2 12847023 12853335 - 12986025 12992335 - 1580863;6480464 12944971;9535749;9714827;17353931;18812394;17192590;16303743;15723160;15489334;15057824;12754519;12694199;12594037;12558498;12477932;12147225;11906178;10903447;10675544;10080942;9924608;9812984;9647784;9446563;6248503;1586130;1540651;23019102;22939629 1777 B7Z4K6;K7ENE5;O00115 AB004574;AB008564;ABBA01029763;ABBA01029764;AC020934;AD000092;AF045937;AF047016;AF060222;AK075449;AK297493;AK311145;AK315358;AMYH01009497;BC010419;BC065209;BT007047;BX394955;CH471106;FJ752529;NM_001375 AAB51172;AAC35751;AAC39852;AAC77366;AAH10419;AAH65209;AAP35696;ACN63522;BAA28623;BAB55598;BAG37753;BAG52141;BAH12592;EAW84320;EAW84321;EAW84322;NP_001366;O00115 Hs.118243 2144875;2148977;5015961 D15S1477;RH44826;RH65998 DNASE2A;DNL;DNL2 DNase II alpha;DNase II, lysosomal;R31240_2;acid DNase;deoxyribonuclease II alpha;deoxyribonuclease-2-alpha;lysosomal DNase II APPROVED protein-coding ENSG00000105612 2960 00531 126350 REVIEWED 736197 DNASE1 deoxyribonuclease I This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 16 16 p13.3 3642941 3648097 + 3702940 3708096 + 1580863;6480464;7240710 2349940;12849983;19360410;19318394;19055475;19022625;18311594;18174230;17588132;17405189;17360785;17320453;17032129;16877481;16771825;16449364;16382368;16352456;15711563;15616553;15489334;15363449;15333586;15188364;14702039;14688237;14613299;12708782;12477932;12005024;11707283;11479590;11474115;11332641;11241278;10381379;9420147;8792814;8586059;7867802;7789176;7762978;7625762;3263467;2921043;2395459;2277032;2251263;19181929;19362700;19863681;19913121;20628086;20856893;20439745;20417303;20800603;19844716;21282512;21233855;21235399;23273922;22094313;22479529;23215638 1773 B4DV35;I3L0Z9;I3L1N2;I3L298;I3L4B8;I3L4C7;I3L4U3;I3L530;P24855 AB188151;AB188152;ABBA01026745;AC005203;AC006111;AI378682;AJ298844;AK095412;AK126850;AK300914;AMYH01007095;BC015002;BC029437;BC064332;BC095475;BX648257;BX648480;CH471112;D83195;M55983;NG_009285;NM_005223 AAA63170;AAC24721;AAH29437;ABM83024;ABM86217;BAA11841;BAE96964;BAE96965;BAG62547;CAC12813;EAW85343;EAW85344;NP_005214;P24855 Hs.629638;Hs.733045 1335932;1658665;1688702;1699416;1745571;1745577;1745579;1745581;1791099;1791101;1791103;1791105;1791107;1791109;1791111;1791113;2181517;5015861;5017455;5022578;5037552;5095263;5095265;5109281;5117400;5117402;7185938 D10S16;D1S1423;D1S1425;D21S1903;D8S2279;GDB:545412;GDB:545415;GDB:624523;GDB:624528;GDB:624541;GDB:624544;GJK050719542;GJK050719543;GJK050719544;RH103299;RH45732;RH69144;SHGC-57870;csnpdnase1-pcr1-1;csnpdnase1-pcr2-1;csnpdnase1-pcr3-1;csnpdnase1-pcr4-1;csnpdnase1-pcr5-1;csnpdnase1-pcr6-1;csnpdnase1-pcr7-1;csnpdnase1-pcr8-1 DKFZp686H0155;DNL1;DRNI;FLJ38093;FLJ44902 DNase I, lysosomal;Dornase alfa;OTTHUMP00000159795;deoxyribonuclease-1;human urine deoxyribonuclease I APPROVED protein-coding 2956 00509 125505;152700 REVIEWED 1348755 DNASE1L1 deoxyribonuclease I-like 1 This gene encodes a member of the deoxyribonuclease family and the protein shows high sequence similarity to lysosomal DNase I. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008] X X q28 153282773 153293621 - 153629579 153640427 - 1580863;6480464 8733135;8248200;9205125;17180083;16381901;16107205;15772651;15489336;15489334;15146197;12477932;11076863;10409440;8654957;8541839;19913121;20503202;20628086;11256614;20967767 1774 A3KQT1;A6QRJ0;E7ESG1;E7EUJ0;P49184;Q5HY40 ABBA01045287;ABBA01045288;AC245140;AL079680;AMYH01023315;BC001561;BC028092;BG468580;BI756240;BT019990;BX936347;CH471172;CN346700;L40817;L40823;NG_012884;NM_001009932;NM_001009933;NM_001009934;NM_006730;U06846;X87196;X90392;X90393 AAB00495;AAB00496;AAB17022;AAH01561;AAH28092;AAV38793;ABM82607;ABM85792;CAA62037;CAL37693;EAW72731;EAW72732;EAW72733;EAW72734;EAW72735;NP_001009932;NP_001009933;NP_001009934;NP_006721;P49184 Hs.401929;Hs.534404 1744617;1744619;1744621;1744623;1744625;1744627;1744629;1748021;1800854;1801638;1802074;1802856;1812434;1812626;1815410;1821726;1823750;1832566;1833514;2036838;2036840;2036842;2036844;2036846;2036848;2036850;2036852;2036854;2036856;2036858;2036860;2036862;2036864;2036866;2036868;2036870;2036872;2036874;2036876;2036878;2036880;2036882;2036884;2036886;2036888;2036890;2036892;2036894;2036896;2036898;2036900;2036902;2036904;2036906;2036908;2036910;2036912;2036914;2036916;2036918;2036920;2036922;2036924;2036926;2036928;2036930;2036932;2036934;2102510;2102512;2102514;2102516;2102518;2102520;5038074;5094492 ECD01292;ECD01698;ECD01918;ECD02316;ECD07224;ECD07323;ECD08741;ECD11949;ECD12967;ECD17423;ECD17900;G54829;G65815;GDB:548776;GDB:548777;GDB:548779;GDB:548780;GDB:548781;GDB:548782;GDB:548783;REN89429;REN89430;REN89431;REN89432;REN89433;REN89434;REN89435;REN89436;REN89437;REN89438;REN89439;REN89440;REN89441;REN89442;REN89443;REN89444;REN89445;REN89446;REN89447;REN89448;REN89449;REN89450;REN89451;REN89452;REN89453;REN89454;REN89455;REN89456;REN89457;REN89458;REN89459;REN89460;REN89461;REN89462;REN89463;REN89464;REN89465;REN89466;REN89467;REN89468;REN89469;REN89470;REN89471;REN89472;REN89473;REN89474;REN89475;REN89476;REN89477;REN89478;stSG604023;stSG604024;stSG604027;stSG604028;stSG604029;stSG604031 DNAS1L1;DNASEX;DNL1L;G4.8;XIB DNase I, lysosomal-like;DNase I-like 1;DNase I-like, muscle-specific;DNase X;OTTHUMP00000031940;OTTHUMP00000031941;OTTHUMP00000031943;OTTHUMP00000032113;OTTHUMP00000196448;deoxyribonuclease-1-like 1;muscle-specific DNase I-like APPROVED protein-coding ENSG00000013563 2957 02096 300081 REVIEWED 1602953 DNHD1L dynein heavy chain domain 1-like 11 p15.4 6522355 6527654 + 387750 AC009796;AK074178;AK125885;AL137619;BX647806;XM_929181;XM_940957 BAB85004;CAB70845;Q8TEE6;XP_934274;XP_946050 Hs.424183 CCDC35;DKFZp686J0796 protein-coding 27280 733865 DNASE1L3 deoxyribonuclease I-like 3 This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 3 3 p14.3 58153394 58175438 - 58178353 58196730 - 1580863;6480464 9070308;9205125;16427601;15629432;15489334;14725611;14702039;14646506;12943533;12477932;12154052;12095301;11141064;9714828;19559017;19574717;20379614;20800603;23229555;23568457;21692081;22019780;16344560 1776 C9J0L2;C9J9N0;H7C4R7;Q13609 AB209613;ABBA01024392;ABBA01024393;AC137936;AF047354;AI591302;AI660448;AK131323;AK301263;AK313303;AMYH01013228;BC015831;BI521582;BI834035;CH471055;DB164811;NG_032070;NM_001256560;NM_004944;U56814 AAB63967;AAC35752;AAH15831;ABM83776;ABM87096;BAD92850;BAG36108;BAG54766;BAH13443;EAW65358;EAW65359;NP_001243489;NP_004935;Q13609 Hs.476453 5015619;5016596;5017415;5022450;5022578;5024039;5037552 D10S275;D11S3114;D16S325;D1S1423;D8S2279;GDB:631802;WI-8475 DHP2;DNAS1L3;LSD;SLEB16 DNase I homolog protein 2;DNase I homolog protein DHP2;DNase I-like 3;DNase gamma;LS-DNase;Liver and spleen DNase;OTTHUMP00000214190;OTTHUMP00000214191;OTTHUMP00000214193;deoxyribonuclease I-like III;deoxyribonuclease gamma APPROVED protein-coding ENSG00000163687 2959 03764 602244;614420 REVIEWED 1318821 DNASE1L2 deoxyribonuclease I-like 2 16 16 p13.3 2226469 2228713 + 2286468 2288712 + 1580863;6480464 9205125;17474147;17490414;16902420;15489334;15203207;14702039;12477932;11141064;1577479;20503202;20967767;23161465 1775 H3BPU8;Q6JVM2;Q6JVM3;Q92874 ABBA01030268;AC009065;AK098028;AMYH01007057;AY298957;AY298958;BC035205;BC063710;CH471112;NM_001374;U62647 AAB63981;AAH35205;AAH63710;AAQ73759;AAQ73760;AAQ73761;BAG53566;EAW85526;EAW85527;EAW85528;EAW85529;NP_001365;Q92874 Hs.103503 1658853;1687113;1852087;2109271 E4F1_8318;RH47012;RH91723;STS-U62647 DNAS1L2 DNase I homolog protein DHP1;DNase I-like 2;deoxyribonuclease-1-like 2 protein-coding ENSG00000167968 2958 04018 602622 VALIDATED 1321748 DND1 DND microRNA-mediated repression inhibitor 1 This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010] 5 5 q31.3 140030565 140033355 - 140050381 140053171 - 1580863;6480464 12477932;18155131;18069663;15902260;15489334;12932328;20411342;17464447;18160032;18414021;20816961;21851623;22614019 373863 Q8IYX4 ABBA01026423;AC116353;AMYH01015661;AY321065;BC033496;CH471062;NM_194249 AAH33496;AAQ63635;ABM83381;ABM86593;ABW03668;EAW62027;NP_919225;Q8IYX4 Hs.591262 1658667;1729009;2112204;2128329;5014931;5096224 D5S2775;Hars;RH70258;STS-H16567;WI-19187;WI-21153 MGC34750;RBMS4 OTTHUMP00000159880;RNA-binding motif, single-stranded-interacting protein 4;dead end homolog 1;dead end protein homolog 1 APPROVED protein-coding ENSG00000256453 23799 13240 609385 REVIEWED 1343943 DNM1DN10@ DNM1 duplicon 10 cluster 15008788 387545 21127 1343429 DNM1DN12@ DNM1 duplicon 12 cluster 15008788 387547 21129 1346567 DNM1DN11@ DNM1 duplicon 11 cluster 15008788 387546 21128 1347520 DNM1DN14@ DNM1 duplicon 14 cluster 15008788 387549 21131 1350627 DNM1DN13 DNM1 duplicon 13 15008788 387548 21130 1351455 DNM1DN15@ DNM1 duplicon 15 cluster 15008788 387550 21132 2289758 DNLZ DNL-type zinc finger 9 9 9 q34.3 109771288 109773177 - 138376173 138378062 - 139256352 139258241 - 6480464 18632665;12477932;21530495;22162012 728489 Q5SXM7;Q5SXM8 ABBA01022705;AI435052;AI696701;AL592301;AMYH01021861;BC146915;BC146924;BC171835;NM_001080849;NR_073565 AAI46916;AAI46925;NP_001074318;Q5SXM8 Hs.528581 C9orf151;HEP;HEP1;MGC87491;TIMM15;ZIM17;bA413M3.2 DNL-type zinc finger protein;HSP70 escort protein;OTTHUMP00000022587;RP11-413M3.2;hsp70-escort protein 1;mtHsp70-escort protein;translocase of inner mitochondrial membrane 15 homolog protein-coding ENSG00000213221 33879 VALIDATED 1353201 DNM1DN16@ DNM1 duplicon 16 cluster 15008788 387551 21133 1353852 DNM1DN1@ DNM1 duplicon 1 cluster 15008788 387536 18228 1346994 DNM1DN20 DNM1 duplicon 20 15008788 387555 21137 1352851 DNM1DN21 DNM1 duplicon 21 15008788 387556 21138 1353831 DNM1DN2@ DNM1 duplicon 2 cluster 15008788 387537 21119 1351847 DNM1DN3@ DNM1 duplicon 3 cluster 15008788 387538 21120 1351183 DNM1DN4@ DNM1 duplicon 4 cluster 15008788 387539 21121 1349651 DNM1DN6 DNM1 duplicon 6 15008788 387541 21123 1346865 DNM1DN7@ DNM1 duplicon 7 cluster 15008788 387542 21124 1603156 DNHL1 dynein heavy chain-like 1 2 p11.2 84597090 84665489 + 14702039;12477932 284944 AC096770;AK094676;BC104884;BC113424;BC143666;CH471053;NM_173645 AAI04885;AAI13425;AAI43667;AAY24108;BAC04400;EAW99556;EAW99557;NP_775916 Hs.249972 FLJ37357 hypothetical protein flj37357 protein-coding 26738 08221 1344898 DNM1DN8@ DNM1 duplicon 8 cluster 15008788 387543 21125 1348829 DNM1P17 DNM1 pseudogene 17 10 10 10 p11.23 30411010 30412840 + 30685156 30686289 + 30646083 30647913 + 15008788 100131084 ABBA01034348;AJ576284;AL161651;AMYH01002217;NG_009124 DNM1DN17;DNM1DN17@;FLJ10486 pseudo 21134 INFERRED 1343454 DNM1DN22 DNM1 duplicon 22 15008788 387557 21139 1351640 DNM1P18 DNM1 pseudogene 18 22 22 q13.2 27093620 27095359 - 43183096 43184835 - 15008788;15008788 387553 ABBA01017924;AJ576285;AL049757;AMYH01012823;NG_009128 2218504 DNM1_4192 DNM1DN18 APPROVED pseudo 21135 INFERRED 1343725 DNM1P19 DNM1 pseudogene 19 12 12 q23.1 100212646 100215409 + 100547374 100550137 + 15008788;15008788 387554 ABBA01053263;AC010203;AJ576286;AMYH01004696;NG_009129 1657766;1665109;1712320;1787756 G30583;G54069;RH79243;SHGC-173374 DNM1DN19 APPROVED pseudo 21136 INFERRED 2302443 DNM1P25 DNM1 pseudogene 25 Y Y q11.223 26392429 26394025 + 26392429 26394025 + 15008788 100216506 AC012005;AJ576280;NG_004755 DNM1DN15-3;DNM1DN15@ pseudo 35172 VALIDATED 2302444 DNM1P24 DNM1 pseudogene 24 Y Y q11.223 26323690 26328779 - 26323690 26328779 - 15008788 100216505 AC023274;AJ576278;NG_004755 DNM1DN15-1;DNM1DN15@ pseudo 35171 VALIDATED 2303840 DNM1P28 DNM1 pseudogene 28 15 15 q13.2 28178349 28183343 - 30390454 30394304 - 15008788 100132031 ABBA01121824;AC120045;AJ576300;AJ576304;AMYH01006502;NG_009142 DNM1DN3-1;DNM1DN3-3;DNM1DN3.1;DNM1DN3.3;DNM1DN3@ pseudo 35175 INFERRED 2302455 DNM1P29 DNM1 pseudogene 29 15 15 q13.2 28472841 28477889 + 30685549 30690597 + 15008788 100132204 AC019322;AJ576303;AMYH01006504;NG_009141 DNM1DN3-2;DNM1DN3.2;DNM1DN3@ pseudo 35176 INFERRED 2302442 DNM1P26 DNM1 pseudogene 26 Y q11.23 27633654 27638610 + 15008788;9847074 100216507 AC006328;AJ576281;NG_004755 DNM1DN16-1;DNM1DN16@ pseudo 35173 VALIDATED 2302257 DNM1P30 DNM1 pseudogene 30 15 15 q13.2 28230392 28233605 - 30443100 30446313 - 15008788 728388 AC120045;AJ576305;AJ576308;AMYH01006502;NG_009071 DNM1DN3-4;DNM1DN3.4;DNM1DN3@;DNM1DN4-3;DNM1DN4@ pseudo 35177 INFERRED 2302459 DNM1P32 DNM1 pseudogene 32 15 15 q13.3 30514241 30519236 + 32726949 32731944 + 15008788 100132100 AC135983;AJ576310;AMYH01006502;NG_009139 DNM1DN4-5;DNM1DN4.5;DNM1DN4@ pseudo 35179 INFERRED 2303461 DNM1P31 DNM1 pseudogene 31 15 15 15 q13.3 11624097 11624719 + 30463797 30466947 + 32679619 32680237 + 15008788 644153 AC139426;AJ576307;NG_009133 DNM1DN4-2;DNM1DN4.2;DNM1DN4@ pseudo 35178 INFERRED 1605895 DNER delta/notch-like EGF repeat containing 2 2 2 q36.3 223997841 224354753 - 229930589 230287530 - 230222345 230579286 - 6480464;6484113 11950833;16740002;16344560;15815621;15489334;12975309;12477932;11997712;9847074;20367751;20070733;20237496;23284291;23382691 92737 Q9UDM2 ABBA01050146;ABBA01050147;ABBA01050148;AC007559;AC007748;AC008273;AC093384;AF442487;AK289553;AK304596;AK304631;AK308576;AL137311;AMYH01011545;AY358891;BC024766;BC035009;CH471063;DA115906;DA400901;NM_139072 AAF19247;AAH24766;AAH35009;AAM21557;AAQ89250;AAY14680;AAY14939;AAY24263;BAF82242;BAG65382;BAG65411;CAB70690;EAW70892;EAW70893;EAW70894;EAW70895;NP_620711;Q8NFT8 Hs.234074 1338194;1339757;1342138;1694878;1707542;1720393;1721489;1723361;2148094;2157952;2176860;7188010 D2S2297;D2S260;D2S341;G44320;G58999;G59598;RH118498;SHGC-12275;SHGC-84582;STS-AA017104;WI-11124 UNQ26;bet H_NH0150O02.1;OTTHUMP00000204223;WUGSC:H_NH0150O02.1;delta and Notch-like epidermal growth factor-related receptor;delta-notch-like EGF repeat-containing transmembrane protein-coding ENSG00000187957 24456 09531 607299 VALIDATED 2302441 DNM1P27 DNM1 pseudogene 27 Y q11.23 27568100 27569993 - 15008788;9847074 100216514 AC006328;AJ576283;NG_004755 DNM1DN16-3;DNM1DN16@ pseudo 35174 VALIDATED 2302440 DNM1P36 DNM1 pseudogene 36 15 15 q25.2 82731700 82733632 - 82731700 82733632 - 15008788 100216515 AC135995;AJ576253;NG_009135 DNM1DN8-3;DNM1DN8@ pseudo 35186 INFERRED 2302439 DNM1P37 DNM1 pseudogene 37 15 15 15 q25.1 55965952 55970115 - 79029473 79033636 - 79029473 79033636 - 15008788 100216516 ABBA01060594;AC022748;AJ576268;AMYH01006836;AMYH01006837;NG_009136 2117122 STS-N25045 DNM1DN10-1;DNM1DN10@ pseudo 35187 INFERRED 2302438 DNM1P38 DNM1 pseudogene 38 15 15 15 q25.2 61377962 61381092 + 82814261 82817391 - 82814261 82817391 - 15008788 100216517 AC135995;AJ576269;NG_009137 DNM1DN10-2;DNM1DN10@ pseudo 35188 INFERRED 2302437 DNM1P39 DNM1 pseudogene 39 15 15 q25.2 83004753 83008034 + 83004753 83008034 + 15008788;9847074 100216518 AC011295;AJ576259;NG_009138 DNM1DN11-3;DNM1DN11@ pseudo 35189 INFERRED 2302536 DNM1P35 DNM1 pseudogene 35 15 15 15 q24.2 52950883 52958182 - 73812258 73819557 - 76020011 76032418 - 15008788;11181995;14702039 100128285 ABBA01060538;AC019294;AF357221;AJ576252;AK091244;AMYH01006819;EG328024;NR_024595 AAK43707 Hs.604066 DNM1DN8-2;DNM1DN8.2;DNM1DN8@;FKSG88;FLJ33925 pseudo ENSG00000246877 35182 VALIDATED 2302832 DNM1P41 DNM1 pseudogene 41 15 q25.2 84835299 84839736 - 15008788 440299 AC136698;AJ576262;AL137524;NR_033787 Hs.454641 5091126 RH65781 DKFZp434H2218;DNM1DN11-6;DNM1DN11.6;DNM1DN11@ pseudo 35191 VALIDATED 2302436 DNM1P42 DNM1 pseudogene 42 15 15 15 q25.2 61377936 61381090 + 83198606 83201760 - 83198606 83201760 - 15008788;9847074 100216541 ABBA01029417;AC010724;AJ576264;AMYH01006854;NG_009144 DNM1DN11-8;DNM1DN11@ pseudo 35192 INFERRED 1601824 DNHD1 dynein heavy chain domain 1 11 11 11 p15.4 6637586 6712323 + 6543911 6549825 + 6518526 6593255 + 6480464 17525332;16344560;15489334;14702039;12975309;12693554;12477932;20379614;22990118;19850743;21507953 144132 B0I1S4;E9PJT4;E9PM64;J3KTE2;J3QRE5;Q96M86 AB231767;AB231768;AB231769;AB231770;AB231771;AB231772;AB231773;AB231774;AB231775;AB231776;AB231777;AB231778;AB290171;ABBA01028669;ABBA01028670;AC009796;AC084337;AK057314;AK074178;AK093028;AK096944;AK125885;AK128064;AL137619;AL137690;AL834222;AMYH01003367;AY358770;BC067363;BC082757;BC111765;BC117301;BC117303;BC143910;BF509041;BG676072;BX647806;BX648742;CH471064;DB074960;DB099871;NM_144666;NM_173589 AAI11766;AAI17302;AAI17304;AAQ89130;BAB71423;BAB85004;BAC04023;BAG06725;CAB70845;CAB70876;EAW68692;EAW68693;EAW68694;EAW68695;EAW68696;EAW68697;NP_653267;NP_775860;Q96M86 Hs.720080 1669086;1681752;2131221;2175815 D11S4585;RH99124;WI-11771;WI-14280 C11orf47;CCDC35;DHCD1;DKFZp434G0812;DKFZp686J0796;DKFZp686N1238;DNHD1L;FLJ00251;FLJ32752;FLJ35709;FLJ39625;FLJ43897;FLJ46184;MGC133191 DNHD1 variant protein;OTTHUMP00000164587;OTTHUMP00000230083;coiled-coil domain containing 35;dynein heavy chain domain 1;dynein heavy chain domain 1-like;dynein heavy chain domain 1-like protein;dynein heavy chain domain-containing protein 1 protein-coding ENSG00000179532 26532 08137 VALIDATED 2302261 DNM1P43 DNM1 pseudogene 43 15 q25.2 82927158 82928975 + 15008788 100216466 AC126339;AJ576266;NG_009070 DNM1DN11-10;DNM1DN11@ pseudo 35193 INFERRED 2303457 DNM1P44 DNM1 pseudogene 44 15 q25.2 84980851 84982344 + 15008788 440303 AC136704;AJ576312;NG_009148 DNM1DN11-13;DNM1DN11.13;DNM1DN11@ pseudo 35194 INFERRED 2302434 DNM1P46 DNM1 pseudogene 46 15 15 q26.3 100336533 100339772 - 100336533 100339772 - 15008788 100216543 Q6ZS02 AC090825;AJ576275;NG_009146 1717303 RH122066 DNM1DN14.2;DNM1DN14@ pseudo 35199 2302435 DNM1P45 DNM1 pseudogene 45 15 q25.3 85794010 85796487 - 15008788 100216542 AC044860;AJ576271;AMYH01006887;NG_009145 DNM1DN12-2;DNM1DN12@ pseudo 35195 INFERRED 2302433 DNM1P47 DNM1 pseudogene 47 15 15 15 q26.3 78727671 78731309 + 102304832 102306895 - 102304917 102308541 + 15008788 100216544 ABBA01020549;ABBA01020550;AC107977;AJ576276;AMYH01006975;NG_009149 DNM1DN14-3;DNM1DN14@ pseudo 35200 INFERRED 4144529 DNM1P48 DNM1 pseudogene 48 Y 27632675 27633374 + 100418739 AC006328;NG_004755 pseudo 38801 VALIDATED 7243493 DNM1P49 DNM1 pseudogene 49 16572171 730058 ABBA01060539;ABBA01060540;AC019294;AMYH01006819;NG_033232;XM_003846272;XM_003846582;XM_003960592 XP_003846320;XP_003846630;XP_003960641 1794350 PMC311040P14 DNM1DN8@ pseudo ENSG00000261820 47040 INFERRED 1346176 DNM1P5 DNM1 pseudogene 5 15 15 15 q14 11621586 11624402 + 32597094 32602647 + 34812808 34815624 + 15008788 728770 ABBA01038530;AC027139;AJ576290;AMYH01006521;NG_009127 DNM1DN5;DNM1DN5@ pseudo 21122 INFERRED 2307388 DNM1P34 DNM1 pseudogene 34 15 15 15 q24.2 52516925 52521702 - 73381028 73382073 - 75590484 75595261 - 15008788;15489334;16572171 729809 Q6PK57 ABBA01060520;AC068338;AJ576251;AJ576255;AMYH01006814;NG_009143 Q6PK57 1675760 RH79965 DNM1DN8-1;DNM1DN8-5;DNM1DN8@ pseudo 35181 INFERRED 1354101 DNM1P9 DNM1 pseudogene 9 15 15 q24.3 75968586 75989260 + 78198543 78203963 + 15008788 400403 ABBA01060575;AC104758;AJ576256;AMYH01006830;NG_009125 1679001 RH80223 DNM1DN9;DNM1DN9-1;DNM1DN9@ pseudo 21126 INFERRED 6481118 DNM3-IT1 DNM3 intronic transcript 1 (non-protein coding) 100874284 AL031864 miscrna 41494 733748 DNM1 dynamin 1 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 9 9 q34 130005484 130057348 + 130965663 131017527 + 70725;1580863;6480464;6484113;6907045 2144893 10430869;10944110;8101525;19110265;18987626;18836734;17910478;17170701;16938290;16622417;16432212;16169070;15872089;15592455;15262989;15252117;15252009;15146195;15123615;15004222;14739229;14702039;14506234;12896979;12855954;12517701;12511974;12477932;12419186;12383797;12359736;12011079;11956154;11877424;11872741;11782545;11563969;11557983;11483962;11341978;11242086;11179417;11082044;11038180;10931822;10899172;10862698;10766777;10764144;10336464;10206341;9950691;9880482;9694653;9463375;9348539;9280305;9238017;9195986;9148966;9143509;8308025;8125298;8119878;7954789;7850421;7634088;12456676;9341169;9009162;12429846;9742220;9722593;11894096;10373452;18539136;19380485;21056892;10521508;15703209;15834155;16275660;17382318;17474147;18839057;19515832;19666604;19776347;19859085;20428113;16325581;18685082;20690924;22863883;23024787;19706678;15287745;17620599;19531213;21460182;16049941;21927000;21900206;22022400;21962517;21906983;19722700;9259551;18602423;19380743;22846998 1759 H7C5U0;Q05193 AB209124;ABBA01043872;AI660320;AK096629;AK127038;AK225179;AK295101;AK296326;AK308793;AK316235;AL590708;AMYH01021743;BC050279;BC063850;CH471090;L07807;L07808;L07809;L07810;NG_029726;NM_001005336;NM_004408 AAA02803;AAA02804;AAA02805;AAA02806;AAH50279;AAH63850;BAD92361;BAG53342;BAG58137;BAG59018;BAH14606;EAW87759;EAW87760;NP_001005336;NP_004399;Q05193 Hs.522413 1342169;1675760;1679001;2152774;2218504;5015861;5015961;5124629;7185938 D10S16;D15S1477;D9S1827;D9S1983;DNM1_4192;RH79965;RH80223;RH80788 DNM OTTHUMP00000022236;OTTHUMP00000022237;OTTHUMP00000215498;OTTHUMP00000215499;OTTHUMP00000215500;dynamin-1 APPROVED protein-coding ENSG00000106976 2972 03851 602377 REVIEWED 5490443 DNM3OS DNM3 opposite strand/antisense RNA 1 q24.3 172107724 172113975 - 6480464 19029138;20400975;16344560;14702039;15885504 100628315 ABBA01027921;AK021543;AL137157;AMYH01001497;AU311708;DB261523;FJ623959;NR_038397;NR_103486 Hs.584880 DNM3-AS1;MIR199A2HG APPROVED miscrna 41228 VALIDATED 2302445 DNM1P33 DNM1 pseudogene 33 15 15 q23 72141855 72144841 + 74356030 74358099 + 15008788;12477932 554175 ABBA01038702;AC013486;AJ576301;AMYH01006782;NG_009156 1675760 RH79965 DNM1DN7-2;DNM1DN7@ pseudo 35180 INFERRED 2302449 DNM1P40 DNM1 pseudogene 40 15 15 q25.2 85046982 85049663 + 85046982 85049663 + 15008788;12477932 400433 ABBA01000296;AC048382;AJ576261;AMYH01006869;NG_009132 DNM1DN11-5;DNM1DN11.5;DNM1DN11@ pseudo 35190 INFERRED 2300361 DNMBP-AS1 DNMBP antisense RNA 1 10 10 q24.2 95424990 95456778 + 101686966 101718755 + 14702039 100188954 ABBA01063239;ABBA01063240;AK098111;AL441886;AL627434;AMYH01002995;NR_024130 Hs.656104 1755159;2118578;5014063 D15S1390;SHGC-142082;SHGC-17231 NCRNA00093;bA287G8.2 APPROVED miscrna 20431 PREDICTED 1351585 DNMT3AP1 DNA methyltransferase 3A pseudogene 1 2 2 2 p14 66895732 66898482 - 66900517 66903264 - 67047013 67049760 - 1304004 15203217 18683034 130802 ABBA01075461;AC009474;AMYH01010410;BN000391;NG_004680 1337409 D2S1772 pseudo 23164 INFERRED 733618 DNM1L dynamin 1-like This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 12 12 p11.21 32723491 32788621 + 32832137 32898584 + 1580863;6480464;6907045;7240710 21325626;22020994;9570752;12861026;9731200;12499352;9786947;19342591;19074440;18838687;18695047;18599615;18465792;17906671;17721437;17718388;17682056;17606867;17553808;17332775;17301055;16010987;15824135;15791210;15383276;15364948;15356267;14741701;12668660;12618434;12499366;12477932;11514614;9742220;9422767;9348079;22367970;20850011;17460227;23349293;23434681;23492771;23524851;23582339;23584531;23658835;10749171;20428767;16169070;16936636;19525928;20103533;20179104;20379614;20826455;20649536;20696759;16874301;20683914;21292769;21172823;21336284;23028930;22863883;23027751;21459773;21701560;21903925;22005465;18353969;21615675;22340708;23185298;23516518;23530241;21997870;21145355;21139048;21693764;21840923;21890473;22428580;22487795;22511751;16999686;19407830;22228096;21145461;22595283;17408615;19805454;21525035;22583914;23000965;23288151;23284813;23334860;21816823;21956116;22053931;22438978;22745122;22445325 10059 B4DDQ3;B4DGC9;B4DPZ9;F8VR28;F8VUJ9;F8VYL3;F8VZ52;F8W1W3;G8JLD5;H0YHY4;H0YI79;J3KPI2;Q59GN9;Q9Y5J2 AA236613;AB006965;AB209070;ABBA01031704;ABBA01031705;ABBA01031706;ABBA01031707;ABBA01031708;AC084824;AC087588;AF000430;AF061795;AF151685;AK123906;AK291094;AK293290;AK294533;AK298568;AK299926;AK302565;AK311606;AMYH01004374;BC024590;BC107763;BF725436;CH471116;DC377686;NG_012219;NM_001278463;NM_001278464;NM_001278465;NM_001278466;NM_005690;NM_012062;NM_012063 AAC23724;AAC35283;AAD39541;AAH24590;AAI07764;ABM82470;ABM85658;BAA22193;BAD92307;BAF83783;BAG56814;BAG57740;BAG60761;BAG61760;BAG63828;EAW88519;EAW88520;EAW88521;EAW88522;EAW88523;EAW88524;EAW88525;EAW88526;EAW88527;NP_001265392;NP_001265393;NP_001265394;NP_001265395;NP_005681;NP_036192;NP_036193;O00429 Hs.556296 1661078;1665489;1665491;1694656;1718331;1721041;2108029;2137431;2149193;2149281;2161633;2179234;5015619;5024756;5037552 A001X15;D11S3114;D12S2017;D8S2279;DNM1L_7961;G43506;G59502;RH123679;RH15679;RH48065;RH48067;RH80030;SGC30841;SGC33422;SHGC-2539 DLP1;DRP1;DVLP;DYMPLE;DYNIV-11;EMPF;FLJ41912;HDYNIV;VPS1 Dnm1p/Vps1p-like protein;OTTHUMP00000241158;OTTHUMP00000241159;OTTHUMP00000241160;OTTHUMP00000241161;OTTHUMP00000241162;OTTHUMP00000241168;OTTHUMP00000241170;dynamin family member proline-rich carboxyl-terminal domain less;dynamin-1-like protein;dynamin-like protein 4;dynamin-like protein IV;dynamin-related protein 1 APPROVED protein-coding ENSG00000087470 2973 04833 603850;614388 REVIEWED 1354127 DNM3 dynamin 3 This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 q24.3 170077261 170648480 + 171810621 172381857 + 1580863;6480464;6907045 15252009;19266077;19007685;18691388;18391951;18033314;17880892;16710414;16381901;15489336;14762214;14760703;14702039;12517701;12511974;12477932;12383797;12168954;11230166;11076863;10048485;9808459;9722593;20700106;17474147;19820697;20379614;20546612;20935629;23383273;21671749;21906983;18602463;20881960;19617259;21117066;21548129;22297481;22393045;21706016;21890473;22504420;22972982;18602423;19380743;22846998;22139419 26052 E5RHK8;E5RIK2;H0YBC6;Q6P2G1;Q9NQ68 AB020627;ABBA01027919;ABBA01027920;ABBA01027921;ABBA01027922;ABBA01027923;AK056279;AK307806;AK308992;AL031864;AL035110;AL121984;AL133514;AL136712;AL137157;AL445990;AL512843;AMYH01001497;AMYH01001498;BC037326;BC047089;BC064546;BQ723087;CH471067;DC316799;NM_001136127;NM_015569;Z97195 AAH64546;BAA74843;BAG51664;CAB66647;CAL38543;CAL38721;EAW90915;EAW90916;EAW90917;EAW90918;EAW90919;EAW90920;EAW90921;EAW90922;NP_001129599;NP_056384;Q9UQ16 Hs.654775 1647038;1666543;1667211;1682137;1686766;1692816;1692840;1692866;1692868;1692876;1692878;1692880;1692882;1692884;1692886;1692890;1705420;1716515;1717229;1717771;1733708;1763753;2116868;2122520;2122522;2130408;2217274;5021928 A001V21;D1S1717;D1S3590;DNM3_3569;G19683;G42274;G42287;G42300;G42301;G42305;G42306;G42307;G42308;G42309;G42310;G42312;RH121543;RH121794;RH122029;RH28587;RH98443;SHGC-147432;SHGC-75905;SHGC-75906;SHGC-75910;SHGC-83574;WI-3733;ha3288 Dyna III;KIAA0820;MGC70433 Dyna III;OTTHUMP00000032875;OTTHUMP00000032876;OTTHUMP00000032877;OTTHUMP00000226534;OTTHUMP00000226535;T-dynamin;dynamin family member;dynamin, testicular;dynamin-3 APPROVED protein-coding ENSG00000197959 29125 13241 611445 VALIDATED 1349665 DNMBP dynamin binding protein DNMBP belongs to the DBL (MIM 311030) family of guanine nucleotide exchange factors and plays a role in the regulation of cell junctions (Otani et al., 2006 [PubMed 17015620]).[supplied by OMIM, Mar 2008] 10 10 10 q24.2 95373310 95507635 - 101625324 101759666 - 101635334 101769676 - 6480464 18452187;18359537;17442457;17015620;16740596;15489334;15302935;14506234;12477932;10231032;16385451;18654987;19807924;22863883;21677511;21906983;10220577;22745667 23268 B4E0Q3;Q5SVK8;Q5SVK9;Q6XZF7 AA771860;AB023227;ABBA01063238;ABBA01063239;ABBA01063240;ABBA01063241;AK128576;AK303479;AL392107;AL441886;AL627434;AL833283;AMYH01002995;AMYH01002996;AY196211;BC041628;CH471066;NM_015221 AAH41628;AAP34307;BAA76854;BAG54695;BAG64515;EAW49849;EAW49850;NP_056036;Q6XZF7 Hs.500771 1645785;1658920;1676716;1755159;2118578 G17409;G17439;RH93813;SHGC-142082;SHGC-17231 ARHGEF36;KIAA1010;RP11-114F7.3;TUBA OTTHUMP00000020271;dynamin-binding protein;scaffold protein TUBA APPROVED protein-coding ENSG00000107554 30373 10918 611282 VALIDATED 730970 DNM2 dynamin 2 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010] 19 19 p13.2 10689755 10803579 + 10828729 10942586 + 1580863;6480464;6484113;6907045;7240710 7590285;11583995;10893263;10101292;19528294;19331814;19155218;19126407;19122038;18981119;18806795;18560793;18394888;18236001;18003703;17932957;17825552;17702746;17702744;17636067;17626097;17565002;17412836;16556602;16551695;16325581;16227997;16049137;15895076;15731758;15696170;15545517;15489334;15483625;15302935;15299020;15231748;15231747;15057824;14760703;14702039;12668728;12517701;12511974;12481986;12477932;12456676;12419186;12383797;12029088;11782545;11533912;11502744;11483962;10477567;9143510;9722593;22528500;16169070;12624098;12952949;20822789;18817572;19932619;11031247;11252894;14985334;15252009;15703209;15790807;15834155;16344560;16696976;17474147;17643375;19041431;19502294;19623537;19833721;20089652;20468064;20508983;20574164;20397975;20227276;16055720;21135248;20562859;21220511;21347282;21283621;21514436;21195118;21411625;21150131;21832049;22574813;22939629;21221624;17623298;21338326;21900206;22022388;12672817;16418535;19531213;20711168;21996738;22586326;9525921;21841817;22174845;22360420;22558309;22091729;22396310;21890473;21906983;22096584;20614582;22613877;22959143;16636290;19738201;21525035;21706016;21988832;22623428;22952906;18541215;18602423;18715908;19380743;20594957;20638642;21813615;22103831;22846998;22623184;23537630 1785 F5H4R9;K7ELR1;K7EMQ3;K7EMR9;K7ENE7;K7EPK9;P50570;Q8N1K8 AB209213;ABBA01029894;ABBA01029895;ABBA01029896;ABBA01029897;ABBA01029898;ABBA01029899;ABBA01029900;AC007229;AC011475;AC011552;AC011554;AC112707;AK023207;AK094984;AK097875;AK097967;AK097989;AK124881;AK126192;AK127033;AK289831;AK295929;AK312260;AMYH01009479;AMYH01009480;AY927542;BC039596;BC054501;BM148999;BU621654;CH471106;DB069057;L36983;NG_008792;NM_001005360;NM_001005361;NM_001005362;NM_001190716;NM_004945 AAA88025;AAD23603;AAD23604;AAH39596;AAH54501;BAC05190;BAC85978;BAC86481;BAC86797;BAD92450;BAF82520;BAG52966;BAG53560;BAG58715;EAW84144;EAW84145;EAW84146;EAW84147;EAW84148;EAW84149;EAW84150;EAW84151;NP_001005360;NP_001005361;NP_001005362;NP_001177645;NP_004936;P50570 Hs.211463 1299974;1331582;1335579;1667794;1767502;1796094;2126809;2137980;5024039 D16S325;D19S226;D19S432;D19S586;D19S854;IL1RL1LG_155;RH48242;STS-L36983;WI-10293 CMT2M;CMTDI1;CMTDIB;DI-CMTB;DYN2;DYNII dynamin II;dynamin-2 APPROVED protein-coding ENSG00000079805 2974 03852 160150;602378;606482 REVIEWED 1606037 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] 20 20 q11.2 30813852 30860823 + 31350191 31397162 + 6480464;6907045;7240710;7242551 22342103 21887463;10647011;10433969;11735126;16357870;16682412;10555141;11102980;18029348;19470733;19326430;19246518;19211935;19124506;19064572;19024105;18829110;18762900;18683034;18662374;18639864;18567530;18563322;18544619;18499700;18455294;18452947;18437543;18414412;18413740;18407600;18367714;18336997;18268116;19517237;18253830;18221536;18097598;18029387;18023104;18006804;17998942;17991895;17890317;17705213;17688412;17538945;17532557;17369845;17353906;17318376;17303076;17277043;17149367;17081533;17017004;16951151;16951144;16920385;16773201;16543361;16501248;16501171;16481298;16463117;16328059;16211278;16194411;16012746;16004934;15962389;15854647;15721400;15580563;15528220;15490234;15467427;15375549;15217506;15148359;15120635;14702039;14559786;14555514;12925568;12879017;12867029;12738984;12601140;12477932;12359337;12239717;12208751;12202768;12145218;12110732;12015329;11934864;11932749;11780052;11350943;11076863;22272627;22563479;10588719;10325416;9662389;14752048;15688037;15105426;20428781;20448464;17687327;17967891;20398055;20593030;20381114;20426865;19399408;19798569;20819778;20960050;21041608;20398054;12777184;16331260;17067458;19019622;19107573;19451595;19465161;19465937;19482874;19502167;19576953;19620278;19626461;19680556;19696477;19777235;19786833;19789190;19798101;19825994;19843671;19854132;19896490;20127025;20453000;20480259;20514408;20952535;19932585;20375073;20381446;19763880;16085498;20838592;20506537;21304883;20980350;21154337;20970125;20833755;21106767;20454457;21909138;22244828;21698279;22490141;22898819;21081840;21490393;21549127;21211326;20847044;20923784;21521786;21757290;20966256;21559330;22572543;17972916;23025623;21712824;22236544;22009713;21229291;21519807;22056872;21854760;21900206;22301400;21482616;22072770;23049596;21592522;21906983;17470536;18095639;22394436;22055183;22064703;21938431;23393137;22207353;22048249;22664488;22547080;23000068;23545144;21963094;22094255;22885766;23000965;22349384;23251566;23128233;23081874;22520950;22768205;22815530;22810147;23039890;22378288;23100393 1789 F8W7Y4;Q9UBD4 AB208880;ABBA01019253;AF129267;AF129268;AF129269;AF156487;AF156488;AF176228;AF331857;AK001191;AK295176;AK299776;AK299821;AK299915;AK300857;AL035071;AMYH01011852;CH471077;DQ321787;L32168;NG_007290;NM_001207055;NM_001207056;NM_006892;NM_175848;NM_175849;NM_175850 AAD31432;AAD31433;AAD31434;AAD53062;AAD53063;AAF04015;AAI11934;AAI18503;AAL57040;ABC48951;BAD92117;BAG50865;BAG58185;BAG61659;BAG61690;BAG61753;BAG62507;EAW76350;EAW76351;EAW76352;EAW76353;EAW76354;EAW76355;EAW76356;NP_001193984;NP_001193985;NP_008823;NP_787044;NP_787045;NP_787046;Q9UBC3 Hs.643024;Hs.713611 2107021;2184602 D20S1126;DNMT3B_7782 ICF;ICF1;M.HsaIIIB DNA (cytosine-5)-methyltransferase 3B;DNA MTase HsaIIIB;DNA methyltransferase HsaIIIB;OTTHUMP00000030604;OTTHUMP00000030605;OTTHUMP00000030606;OTTHUMP00000164397 APPROVED protein-coding ENSG00000088305 2979 04209 242860;602900 REVIEWED 1606038 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 p23 25309349 25418963 - 25455830 25565459 - 6480464;6907045;7242551 22342103 17439403;17687327;21887463;22124213;22251315;12138111;17713477;19468253;19451595;19246518;19234465;19211935;19161160;19139273;19124506;19070387;19064572;18829110;18391951;18381459;18253830;17998942;17890317;17688412;17548962;17538945;17081983;17081533;16998846;16983096;16769694;16682412;16357870;16173030;15854647;15799776;15721400;15616584;14752048;12738984;12711675;12496760;12481029;12477932;12406579;12383256;12359337;12145218;11934864;11834837;11350943;10433969;10325416;9662389;8889548;7566098;12867029;15688037;15105426;15861382;22086334;22162396;22289988;12777184;16331260;17175537;19394279;19620278;19625655;19638978;19680556;19786833;19798101;19834512;19921333;20128888;20147412;20223770;20227382;20228804;20381446;20570913;20593030;20620135;21067377;20381114;20426865;20467490;20560050;19763880;20630873;16322236;20473858;20838592;21102463;21304883;20980350;20970125;21399634;20951977;22905207;22957049;22321265;22722750;23100393;22730298;22898819;21504050;21415852;21519343;21537334;21670448;20847044;20923784;21674242;21745816;21406692;23603912;23632886;22645246;18029348;20966256;21685466;21828135;21979949;22021454;21518476;22216861;22066015;22291079;22301400;21890473;21967546;21981547;22077061;22138693;22219193;21993668;21044950;21826395;22490330;17470536;22081665;22110720;21880635;21880636;22055183;22064703;21859430;21980299;22733537;22744846;22048249;22749068;17972916;23018098;22349384;23548901;23135354;23000965;23053986;23042785;23393137;23408834;22520950;22722925;22768205;23031157;23039890;23365461 1788 F8WE91;Q9Y6K1 AB076659;AB208833;ABBA01045143;ABBA01045144;ABBA01045145;ABBA01045146;ABBA01045147;ABBA01045148;AC012074;AF067972;AF331856;AF480163;AF503864;AI376254;AK025230;AMYH01010181;AMYH01010182;AMYH01010183;AMYH01010184;BC018214;BC023612;BC032392;BC043617;BC051864;BM470515;CB852889;CH471053;NG_029465;NM_022552;NM_153759;NM_175629;NM_175630;W76111 AAD33084;AAH18214;AAH23612;AAH32392;AAH43617;AAH51864;AAL57039;AAN40037;AAY14761;ABZ92480;BAD92070;EAX00727;EAX00728;NP_072046;NP_715640;NP_783328;NP_783329;Q9Y6K1 Hs.515840 1339838;1674298;1739295;1739899;2168138;2173169;2191583;5494138 A007B06;D2S144;D2S1959E;D2S2119;D2S2703;MARC_26721-26722:1034781098:3;RH130466;RH45375 DNMT3A2;M.HsaIIIA DNA (cytosine-5)-methyltransferase 3A;DNA MTase HsaIIIA;DNA cytosine methyltransferase 3A2;DNA methyltransferase HsaIIIA;OTTHUMP00000120005;OTTHUMP00000120006;OTTHUMP00000201147;OTTHUMP00000201148;OTTHUMP00000201149;OTTHUMP00000201150 APPROVED protein-coding ENSG00000119772 2978 04141 602769 REVIEWED 1343645 DNMT3L DNA (cytosine-5-)-methyltransferase 3-like CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 21 21 q22.3 44490651 44506527 - 45666222 45682099 - 1580863;6480464;6907045 16829525;20428781;20460473;16543361;12202768;11934864;16780588;19064572;17965599;17713477;17687327;15861382;22401780;16575165;16211598;16189514;15489334;15105426;14735494;12481029;12477932;12237941;12177302;12044346;10857753;10830953;21126912;12777184;19246518;19625766;19921333;20670142;20838592;20630873;20593030;21900206;22116073;22671959 29947 C9J0T5;H7C3F7;Q9UJW3 ABBA01074158;ABBA01074159;AF194032;AMYH01012288;AMYH01012289;AP001059;AP001060;AP001753;BC002560;BQ028660;CH471079;HC006936;NM_013369;NM_175867 AAF05812;AAH02560;ABM83103;ABM86298;BAA95556;CBH19273;EAX09445;NP_037501;NP_787063;Q9UJW3 Hs.592165 MGC1090 DNA (cytosine-5)-methyltransferase 3-like;OTTHUMP00000109516;OTTHUMP00000109517;cytosine-5-methyltransferase 3-like protein;human cytosine-5-methyltransferase 3-like protein APPROVED protein-coding ENSG00000142182 2980 09417 606588 REVIEWED 1354178 DNMT1 DNA (cytosine-5-)-methyltransferase 1 DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 19 19 p13.2 10105022 10166811 - 10244022 10305755 - 1580863;2301221;2301220;6480464;6907045;7242551 17196739;14634451;22342103 19124506;11748221;11399088;21887463;8940105;18754681;10888872;18413740;19539327;19468253;19465937;19450230;19424621;19399937;19386473;19339266;19292979;19282482;19275888;19246518;19211935;19173286;19161160;19064572;19019634;19016755;18829110;18680430;18567946;18563322;18505931;18499700;18414412;18404674;18253830;18252747;18204201;18202356;18198215;18049164;18038118;17991895;17965595;17934516;17931718;17893234;17716861;17698033;17673620;17657744;17538945;17532557;17492476;17470536;17322882;17312023;17178861;17093909;17085482;17081983;17081533;17053888;17030625;17015478;16998846;16963560;16960727;16916647;16897079;16861352;16801630;16769694;16537562;16497664;16424002;16423997;16344560;16322686;16314526;16053511;15956212;15870198;15799776;15790807;15762053;15755728;15735013;15696166;15657147;15635413;15526354;15375672;15340041;15302935;15289832;15220328;15087453;15057824;14978102;14760703;14734556;14702039;14684836;14583449;14577574;14559786;12804601;12789259;12738984;12712445;12711675;12637155;12594811;12576480;12548018;12538344;12530095;12496760;12477932;12354094;12145218;11932749;11847125;11834837;22403725;18095639;22411829;22455563;22317856;11222358;10947852;10888886;10753866;10615135;10449766;10444590;10325416;9333948;9302295;7760804;3210246;1594447;12867029;18158899;16169070;15120635;15688037;12171929;20428781;20588031;20940144;17250953;22110720;21532572;17967891;21268065;20192566;20192608;20398055;20593030;20570896;20875141;19399408;19798569;21163962;20620135;20840813;19943104;12473678;16227093;16357870;17067458;18931722;19236003;19279403;19394279;19531770;19615732;19896490;19936946;20044957;20071334;20071580;20081831;20093774;20147412;20228804;20335008;20381114;19932585;20354000;17124180;20592467;20613874;19800870;20920981;19763880;16085498;21042757;21045206;21151116;22739025;21078759;21266713;21378168;21573703;15313181;20980350;21296890;20937307;20970125;21316665;21321201;21353307;17707923;21478913;21636528;21139048;21592522;21890473;21906983;21963094;22135303;20951977;22975348;21565170;21389349;21459093;21565830;21735817;21311766;21745816;15161933;21229291;21756783;21791605;21395176;21757290;21458988;21619587;17972916;23072722;23545144;19957555;21999220;21947282;21523767;21900206;22295098;22301400;22274925;22278882;22362755;22586326;22606318;19531213;21252943;22236544;18781797;22072770;23064049;22219193;21962230;21966451;19471022;21347439;21539677;22055183;22064703;20301312;21628590;21670149;21826395;22328086;22048249;22338191;22547080;22795133;23365052;22349384;23548901;23049933;23249948;22894906;20467438;21282530;22094255;23000965;23125218;23041765;23393137;22167392;22505724;22520950;22768205;22264301;23463006;23039890;22898998 1786 F5GX68;I6L9H2;K7EIZ6;K7EJL0;K7EKC3;K7ELB1;K7EMU8;K7ENQ6;K7ENW7;K7EP77;K7ER10;K7ERQ1;P26358 AB209413;ABBA01029946;ABBA01029947;AC010077;AC011511;AC020931;AF180682;AK122759;AMYH01009467;AY927518;BC092517;BC126227;BC144093;CH471106;DA653750;NG_028016;NM_001130823;NM_001379;X63692 AAD54507;AAF23609;AAH92517;AAI26228;AAI44094;BAD92650;BAG53712;CAA45219;EAW84079;EAW84080;NP_001124295;NP_001370;P26358 Hs.202672 2128269;2143666 D19S830;RH18124 ADCADN;AIM;CXXC9;DNMT;FLJ16293;HSN1E;MCMT;MGC104992 CXXC finger protein 9;CXXC-type zinc finger protein 9;DNA (cytosine-5)-methyltransferase 1;DNA MTase HsaI;DNA methyltransferase 1;DNA methyltransferase HsaI;m.HsaI APPROVED protein-coding ENSG00000130816 2976 00532 126375;604121;614116 REVIEWED 2301500 DOC2BL double C2-like domains, beta-like 17 p13.3 5810 31270 - 653051 XM_925795 XP_930888 Hs.551705 protein-coding 34506 732162 DOC2B double C2-like domains, beta There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008] 17 17 p13.3 96907 129072 - 6009 31420 - 1580863;6480464 8902635;12621583;10488064;9804756;9195900;9115738;8554557;7826360;20379614;8889548;22036572;21502085;18029348;20467438 8447 Q14184 ABBA01015249;ABBA01015250;AC108004;AC129894;AC240565;AF240580;AI478508;AMYH01007970;BM713588;CH471108;D70830;DN831650;NG_021143;NM_003585 AAI52721;AAI53025;BAA11107;EAW90677;NP_003576;Q14184 Hs.551705 1659770;1681159;1761829;1769947;2137178 D17S2197;D17S2199;RH80768;SHGC-145783;STS-D70830 DOC2BL OTTHUMP00000205632;doc2-beta;double C2-like domain-containing protein beta;double C2-like domains, beta-like APPROVED protein-coding 2986 05196 604568 REVIEWED 3208070 DOC2GP double C2-like domains, gamma, pseudogene 11 11 11 q13.2 64715457 64717597 - 67136884 67140304 - 67380995 67383135 - 6480464 15496913;20210993 390213 ABBA01024026;AMYH01003747;AP003385;CH471076;DY654453;DY654463;DY654465;NR_033791 EAW74657 Hs.523838 1774233;1775400 A002J17;RH11768 pseudo 37962 VALIDATED 1313575 DNPEP aspartyl aminopeptidase The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. [provided by RefSeq, Jul 2008] 2 2 2 q35 214008170 214022675 - 219946424 219960906 - 220238180 220252662 - 1580863;6480464 9632644;17353931;16189514;15489334;14702039;12895663;12477932;12413488;22863883;22939629;21139048;21906983;22720794 23549 B9ZVU2;C9J1E2;C9JBE1;C9JRG3;E3W974;E3W979;E5RHR3;E5RJ35;E7EMB6;E7EPX3;E7ETB3;F8WAN0;Q9NV55;Q9ULA0 ABBA01023841;ABBA01023842;AC053503;AF005050;AK001777;AK001977;AK021871;AK023005;AK301919;AK302809;AMYH01011507;AX002997;AX002999;BC000653;BC003040;BC004854;CH471063;NM_012100 AAD01211;AAH00653;AAH04854;AAY15050;ABM82863;ABM86050;BAA91903;BAA92014;BAB13923;BAH13586;BAH13808;EAW70728;EAW70729;EAW70730;EAW70731;EAW70732;EAW70733;EAW70734;EAW70735;EAW70736;EAW70737;EAW70738;NP_036232;Q9ULA0 Hs.258551 1662984;2148492;5015861;5022450;7185938 D10S16;D10S275;SHGC-114;SHGC-32022 ASPEP;DAP OTTHUMP00000064850;OTTHUMP00000064851;OTTHUMP00000064852;OTTHUMP00000064853;OTTHUMP00000227669;aspartyl aminopeptidase APPROVED protein-coding ENSG00000123992 2981 09924 611367 REVIEWED 1603316 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44745576 44749420 - 43301345 43305189 - 43193367 43197211 - 6480464 9271375;18726892;17081983;16189514;15489334;14574404;12477932;18029348;16341674;20962348;22939629;17234634;21044950;21139048;21988832 10591 H0Y8X4;O43598 ABBA01050693;AF040105;AL133375;AMYH01016311;BC011683;BM747628;BQ052226;CH471081;EU585603;NM_006443;NM_199184 AAB96766;AAH11683;ACB87500;EAX04165;EAX04166;NP_006434;NP_954653;O43598 Hs.109752 1660044 D6S1859 C6orf108;RCL;RP3-330M21.3;dJ330M21.3 2'-deoxynucleoside 5'-phosphate N-hydrolase 1;OTTHUMP00000016424;OTTHUMP00000217076;OTTHUMP00000217077;c-Myc-responsive protein Rcl;deoxyribonucleoside 5'-monophosphate N-glycosidase;putative c-Myc-responsive APPROVED protein-coding ENSG00000112667 21218 06707 REVIEWED 1312854 DNTT DNA nucleotidylexotransferase This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 10 10 q23-q24 98054075 98088311 + 98064085 98098321 + 1580863;6480464;6907045 2863268;17663723;16885057;15489334;15356150;15198352;12960389;12786946;12477932;11974916;11554927;11473582;10570175;9787156;9742508;8778025;8163485;8125298;6091113;6087320;3862101;3579900;3524991;3467897;3395350;2833741;18429817;16385451;23329999;18029348;19930467;21906983;15174051;22505724 1791 P04053;Q14182 AB046378;ABBA01021830;AK130771;AK223317;AK313615;AL136181;AMYH01002970;AMYH01002971;BC012920;CH471066;K01919;M20703;M21195;M22968;M26144;NM_001017520;NM_004088 AAA53100;AAA61136;AAA61137;AAA74588;AAH12920;ABM82391;ABM85571;BAB72001;BAD97037;EAW49979;NP_001017520;NP_004079;P04053 Hs.534206 1667466;1741631;1742209;1782168;2108031;2162681 D10S2140;DNTT_8309;GDB:181598;GDB:193842;SHGC-155779;STS-M11722 TDT DNA nucleotidylexotransferase;OTTHUMP00000020171;deoxynucleotidyltransferase, terminal;nucleosidetriphosphate:DNA deoxynucleotidylexotransferase;terminal addition enzyme;terminal deoxynucleotidyltransferase;terminal deoxyribonucleotidyltransferase;terminal transferase APPROVED protein-coding ENSG00000107447 2983 08925 187410 REVIEWED 1604625 DNTTIP2 deoxynucleotidyltransferase, terminal, interacting protein 2 This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010] 1 1 1 p22.1 92586515 92598428 - 94107924 94117330 - 94335014 94344762 - 6480464 8125298;19453261;16762320;15047147;14702039;12786946;12477932;1504714;16344560;20887155;19454010;18029348;21906983;19471022;21139048;21693764;21668587;21987572;22586326;22779921 30836 E9PRB3;J3KP30;Q5QJE6 AA832262;AB046574;ABBA01045518;AI436814;AK123702;AK222722;AK292379;AK302909;AK308808;AL049796;AMYH01000805;AU134239;AY336729;AY394925;BC001784;BC020634;BC047688;BC063040;BC130622;BX648593;CH471097;NM_014597;U15552 AAA50601;AAH47688;AAI30623;AAQ95169;AAR02407;ADR83408;BAD08331;BAD96442;BAF85068;BAH13840;EAW73063;EAW73064;NP_055412;Q5QJE6 Hs.601998;Hs.85769 1739165;1756125;5021564;5022637 D11S2766;D1S2275;G02278;SHGC-142922 ERBP;FCF2;FLJ98849;HSU15552;LPTS-RP2;MGC163494;RP4-561L24.1;TdIF2 LPTS-interacting protein 2;OTTHUMP00000011922;acidic 82 kDa protein mRNA;acidic 82 kDa protein mRNA (HSU15552);deoxynucleotidyltransferase terminal-interacting protein 2;estrogen receptor binding protein;estrogen receptor-binding protein;tdT-interacting factor 2;terminal deoxynucleotidyltransferase-interacting factor 2 APPROVED protein-coding 24013 09994 611199 REVIEWED 1348269 DOCK11P1 dedicator of cytokinesis 11 pseudogene 1 14 14 q21.2 44399269 44406679 - 45329322 45335443 - 100132537;414888 ABBA01018043;AL049870;AMYH01005701;NG_028868 pseudo 31719 INFERRED 1322651 DNTTIP1 deoxynucleotidyltransferase, terminal, interacting protein 1 DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008] 20 20 20 q13.12 41131070 41150565 + 43853983 43873473 + 44420576 44440066 + 1580863;6480464 17663723;17081983;15489334;12766061;12477932;11780052;11473582;19505873;17207965;21258344;19930467;19471022;21890473;21906983 116092 F2Z2A4;H0Y501;H7C1J2;H7C1M5;Q9H147 AB035676;ABBA01052667;AI538721;AK314003;AL050348;AMYH01011938;AMYH01011939;BC009535;BC024290;BG720866;CD678110;CH471077;NM_052951 AAH09535;AAH24290;ADQ32198;BAB62888;BAG36715;EAW75810;EAW75811;EAW75812;NP_443183;Q9H147 Hs.472852 2132826 D20S576E C20orf167;Tdif1;dJ447F3.4 OTTHUMP00000031159;OTTHUMP00000031160;OTTHUMP00000031161;TdT binding protein;deoxynucleotidyltransferase terminal-interacting protein 1;tdT-interacting factor 1;terminal deoxynucleotidyltransferase-interacting factor 1 APPROVED protein-coding ENSG00000101457 16160 16831 611388 VALIDATED 731423 DOC2A double C2-like domains, alpha There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 72773320 72778886 + 29924336 29929902 - 30016835 30022401 - 1580863;6480464 7826360;15489334;14702039;12477932;9804756;9736751;9195900;9115738;8554557;18354201;19242545;19736351;20489179;20677014;22036572 8448 B4DEJ2;H3BNF7;H3BSH4;H3BSN9;H3BTI1;H3BU41;I3L194;I3L3P9;Q14183 ABBA01013110;AC093512;AK090829;AK293651;AK309158;AMYH01007497;BC041769;BC055284;BC063436;CH471238;D31897;NM_003586 AAH41769;AAH55284;AAH63436;BAA06695;BAG57103;EAW79942;EAW79943;EAW79944;EAW79945;EAW79946;EAW79947;EAW79948;EAW79949;EAW79950;EAW79951;EAW79952;NP_003577;Q14183 Hs.355281 1685724;1689941;1783376 RH80757;RH99266;SHGC-149978 Doc2 OTTHUMP00000162986;doc2-alpha;double C2-like domain-containing protein alpha APPROVED protein-coding ENSG00000149927 2985 05195 604567 REVIEWED 1315227 DOCK1 dedicator of cytokinesis 1 This gene product binds to the SH3 domain of CRK protein. It may regulate cell surface extension and may have a role in the cell surface extension of an engulfing cell around a dying cell during apoptosis. [provided by RefSeq, Jul 2008] 10 10 q26.13-q26.3 128658955 129140770 + 128768965 129250780 + 1580863;6480464;6907045 11240126;11171081;11146654;9548247;8662907;8657152;11595183;10559471;14645848;11703939;11369773;9808620;12134158;15247908;17474147;9548255;8661160;19118547;19004829;18768751;18725541;18682798;18596235;17764157;17173036;16964243;16495483;16440329;16213822;16025104;15723800;15700267;14702039;14638695;12879077;12615911;12477932;12432077;11773052;21145461;16385451;17362836;17643375;19803396;19851296;20198315;20237902;20379614;20829512;20016009;20562859;20936779;23592719;22175896;22323579;21890473;21139048;22080864;15673687;21706016;23031429 1793 Q14185 ABBA01009077;ABBA01009078;ABBA01009079;ABBA01009080;ABBA01009081;ABBA01009082;ABBA01009083;ABBA01009084;ABBA01009085;ABBA01009086;ABBA01009087;AK091673;AL157538;AL157711;AL355316;AL359094;AL390920;AL590372;AMYH01003170;AMYH01003171;AMYH01003172;AMYH01003173;AW298149;BC084559;BC144632;BC146857;BU556771;BX470155;BX470201;BX482033;BX648342;CF455012;CH471066;CX163251;D50857;NM_001380 AAI46858;BAA09454;EAW49194;NP_001371;Q14185 Hs.159195 1336371;1338103;1338522;1662190;1674916;1689450;1691310;1701094;1706972;1709930;1716041;1717439;1719691;1750395;1757705;1758501;1760405;1777503;1782072;1851197;1853757;1858509;2122993;2144730;2147909;2153064;2166473;2170272;2181207;2183608;5014740;5024756;7186802 A003N20;A008S36;D10S1438;D10S1782;D10S186;D10S1862;D14S280;D17S610;G17408;G17523;G30093;RH104174;RH120959;RH122210;RH123534;RH1577;RH66012;RH80030;RH80058;RH91379;SHGC-112575;SHGC-142396;SHGC-14365;SHGC-14609;SHGC-146320;SHGC-148479;SHGC-153976;SHGC-24326;SHGC-80984;SHGC-84824;T02857;WI-20848 DOCK180;ced5 180 kDa protein downstream of CRK;DOwnstream of CrK;OTTHUMP00000020733;dedicator of cyto-kinesis 1;dedicator of cytokinesis protein 1 APPROVED protein-coding ENSG00000150760 2987 03240 601403 REVIEWED 7248318 DOCK4-AS1 DOCK4 antisense RNA 1 12477932 100506413 AACC02000002;ABBA01057851;AC003077;AMYH01017860;BC043243;CH236947;DB513163;HY004923;NG_028060;NR_103806;XR_108798;XR_110733;XR_113065;XR_171675 Hs.677513 miscrna ENSG00000225572 40876 VALIDATED 1348616 DOCK11 dedicator of cytokinesis 11 X X X q24 118084625 118274886 + 117513900 117704151 + 117629872 117820123 + 1580863;6480464 16968698;14702039;12477932;12432077;15840729;21139048;21890473 139818 A6NIW2;Q5JSL3 AA490413;ABBA01036766;ABBA01036767;ABBA01036768;ABBA01036769;ABBA01036770;ABBA01036771;ABBA01036772;ABBA01036773;ABBA01036774;ABBA01036775;ABBA01036776;ABBA01036777;ABBA01036778;ABBA01036779;ABBA01036780;ABBA01036781;ABBA01036782;ABBA01036783;ABBA01036784;ABBA01036785;ABBA01036786;ABBA01036787;ABBA01036788;ABBA01036789;ABBA01036790;AC007021;AI361832;AI936555;AK054649;AK056684;AK124735;AK125641;AL391237;AL391280;AMYH01022875;AMYH01022876;AMYH01022877;AW968823;AY692226;BC035593;BC042053;BC047713;BF513250;CH471161;NM_144658 AAH47713;AAI56531;AAU04438;BAB71253;BAC86230;BAG51406;EAW89895;NP_653259;Q5JSL3 Hs.368203 1691684;1697582;1702348;1703108;1780462;1780468;1787398;1975068;2129179;2138590;5019275 AF026417;AL032607;DXS7816;DXS7901;REN58420;RH102301;SHGC-172964;SHGC-60165;sWXD1059;stbA483G10SP6A;stbA573J16SP6 ACG;FLJ32122;FLJ43653;ZIZ2;bB128O4.1 Activated Cdc42-associated guanine nucleotide exchange factor, ACG;OTTHUMP00000023889;OTTHUMP00000215703;bB128O4.1.1 (novel protein);dedicator of cytokinesis protein 11;zizimin-2;zizimin2 protein-coding ENSG00000147251 23483 06492 300681 VALIDATED 1348168 DOCK10 dedicator of cytokinesis 10 2 2 2 q36.2 219395607 219675879 - 225338051 225615574 - 225629807 225907330 - 1580863;6480464 18835169;18499258;17081983;16189514;15815621;15710388;15489334;14702039;12477932;12432077;12168954;9734811;21514340;21139048 55619 B3FL70;F8WB48;F8WE73;H0YFC5;H7C0I3;Q68DA4;Q96BY6 AB014594;AB074179;ABBA01023759;ABBA01023760;ABBA01023761;ABBA01023762;AC011739;AC017095;AC093806;AF250396;AK000227;AK001253;AK293847;AK293879;AK307914;AMYH01011530;BC015018;CH471063;CR749492;DN991477;EG328193;EG328223;EG328495;EG328518;EG328531;EG328562;EU236710;NM_014689 AAH15018;AAQ14262;AAX88891;ABY70713;ADZ15499;BAA31669;BAA91022;BAA91583;BAE45740;BAG57245;BAG57268;CAH18316;EAW70832;EAW70833;EAW70834;EAW70835;NP_055504;Q96BY6 Hs.46578 1340084;1666686;1672569;1756513;2135147;2177661;2191417;7186539 D2S1766;D2S351;MARC_21678-21679:1033416202:1;RH18514;SHGC-143539;SHGC-37339;STS-AA039469 DKFZp781A1532;DRIP2;Nbla10300;ZIZ3 OTTHUMP00000203874;OTTHUMP00000203922;dedicator of cytokinesis protein 10;dopamine receptor interacting protein 2;protein zizimin 3;zizimin-3;zizimin3 protein-coding ENSG00000135905 23479 10919 611518 VALIDATED 1315429 DOCK3 dedicator of cytokinesis 3 This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010] 3 3 3 p21.2 50685455 51395983 + 50687676 51396669 + 50712672 51421629 + 1358592;1580863;6480464 14569117 17474147;19352218;19058789;18716063;15647471;12477932;12432077;12093789;11696419;10854253;9205841;20032819;20307617;20368433;20379614;18029348;15840729;21139048;22115042;22745667;20881960;22746061 1795 Q8IZD9 AB002297;ABBA01024531;ABBA01024532;ABBA01024533;ABBA01024534;ABBA01024535;ABBA01024536;ABBA01024537;AC092037;AC096886;AC096920;AC099047;AC107313;AC126120;AC131013;AC139619;AC140120;AC144634;AK310984;AMYH01013176;AMYH01013177;AMYH01013178;AY145303;AY254099;BC037933;BC045793;BC131746;CH471055;NG_028012;NM_004947 AAI31747;AAI56340;AAI57128;AAN12301;AAP80572;BAA20759;EAW65134;EAW65135;EAW65136;EAW65137;NP_004938;Q8IZD9 Hs.476284 1339798;1341473;1341699;1646293;1724265;1735278;1738921;1739313;1753491;1778846;1787674;2153166;2174434;2218506;5494132;7185607 D10S589;D3S1235;D3S1573;D3S2928E;D3S3060;D3S3151;D3S3188;D3S3306E;DOCK3__4766;RH121275;RH12752;RH18533;SHGC-107368;SHGC-156153;fk95g07.x1 KIAA0299;MOCA;PBP OTTHUMP00000216674;dedicator of cyto-kinesis 3;dedicator of cytokinesis protein 3;modifier of cell adhesion;presenilin-binding protein APPROVED protein-coding ENSG00000088538 2989 10341 603123 REVIEWED 1350295 DOCK4 dedicator of cytokinesis 4 This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008] 7 7 q31.1 111153400 111633698 - 111366164 111846462 - 1580863;6480464;6484113 16464467;17353931;19528233;19401682;19383911;18641688;18459162;17027967;16344560;16213364;14702039;12853948;12628187;12477932;12432077;9872452;22788528;19807924;20346443;20379614;23084401;15324660;21532034;22747683;21139048;21890473;21682944;22315970;22890011;18271526;22952844 9732 C9J637;C9J7D9;C9JDB3;F5GXW1;F8WES4;H0Y599;H0Y7H7;Q8N1I0 AACC02000002;AB018259;ABBA01057850;ABBA01057851;ABBA01057852;AC003077;AC003080;AC004001;AC004111;AC005047;AF085922;AK055497;AK091557;AK098050;AK294722;AK294820;AK309605;AMYH01017860;AMYH01017861;AY233380;BC117688;BC117689;BC117694;BM126591;BM545903;CH236947;CH471070;DA646980;NG_028060;NM_014705 AAB83946;AAI17689;AAI17690;AAI17695;AAO73565;AAS07431;BAA34436;BAC03696;BAC05221;BAH11861;BAH11895;EAL24377;EAW83451;EAW83452;EAW83453;EAW83454;EAW83455;EAW83456;NP_055520;Q8N1I0 Hs.654652 1342284;1653583;1668050;1681368;1683365;1691698;1691702;1696828;1696830;1707126;1713923;1714579;1725349;1771170;1787766;1848296;2130286;2141666;2145499;2151667;2162140;2173862;2184403;5015619;5093006;7184028;7187442 A009E05;D11S3114;D7S1424;D7S523;G32465;G42167;G42169;G49158;G49159;GDB:1234268;GDB:1317590;GDB:1317986;GDB:3754623;GDB:4585517;L29706;RH118992;RH119391;RH119803;RH48305;RH66687;RH68519;RH93151;RH94189;SHGC-173129;SHGC-81329 FLJ34238;KIAA0716;MGC134911;MGC134912 OTTHUMP00000207227;OTTHUMP00000207499;OTTHUMP00000207500;OTTHUMP00000207611;dedicator of cytokinesis protein 4 APPROVED protein-coding ENSG00000128512 19192 07407 607679 REVIEWED 6480817 DOCK9-AS1 DOCK9 antisense RNA 1 100874096 AI027206;AL161420 Hs.578066 APPROVED miscrna 40672 6480301 DOCK9-AS2 DOCK9 antisense RNA 2 (head to head) q32.3 6480464 11991713 100861541 AF339771;AL391122 Hs.344872 1721927;1773735 G59996;RH45078 APPROVED miscrna 43696 1323174 DOCK2 dedicator of cytokinesis 2 The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells, predominantly in the peripheral blood leukocytes, and is involved in remodeling of the actin cytoskeleton required for lymphocyte migration, through the activation of RAC. Mice lacking this gene show a severe impairment in the migration and homing of lymphocytes. These mutant mice also exhibited long-term survival of allografts, suggesting that this gene may be a target for controlling transplant rejection. [provided by RefSeq, Oct 2011] 5 5 q35.1 168996871 169442959 + 169064251 169510386 + 1580863;6480464 10559471;12176041;12134158;11518968;14737186;18662984;18464913;18056264;17015707;16344560;15592455;15489334;15144186;12829596;12477932;12432077;12393632;12191913;9039502;15723800;19729484;20201926;20350533;20379614;20412587;19913121;20628086;21645150;20811636;22331897;18029348;22745667;21890473;21906983;23382691;22505724;22844345;23525077 1794 B3KXW9;E5RFJ0;E7ERW7;H0YB76;H7C082;Q5XG91;Q92608 ABBA01044102;ABBA01044103;ABBA01044104;ABBA01044105;ABBA01044106;ABBA01044107;ABBA01044108;AC008449;AC008648;AC008680;AC010303;AC026695;AK128107;AK128449;AK130744;AMYH01015800;AMYH01015801;AMYH01015802;BC016996;BC035613;BC084556;BC104900;BC113457;BC143358;BF110460;CH471062;D86964;DB145764;NM_004946 AAH16996;AAH84556;AAI04901;AAI13458;BAA13200;BAC85420;BAG54631;BAG54676;EAW61491;EAW61492;NP_004937;Q92608 Hs.586174 1336136;1340878;1341655;1653060;1674498;1707580;1722877;1768611;1780570;1780604;1780768;1785550;1785686;2131835;2153184;2161179;2170201;2180022;2180908;2219784;5020431;7184039 D5S1445;D5S1713;D5S1874;D5S1961;D5S1973;D5S504;D5S596;DOCK2__4765;DXS9762;G60533;L31470;RH25421;RH45919;SGC32167;SHGC-154862;SHGC-78709;SHGC-84601;WI-18461;bac51192T;bac51362S;bac51983T FLJ46592;KIAA0209 OTTHUMP00000160994;OTTHUMP00000223166;dedicator of cyto-kinesis 2;dedicator of cytokinesis protein 2 APPROVED protein-coding ENSG00000134516 2988 09121 603122 VALIDATED 1315737 DOCK5 dedicator of cytokinesis 5 8 8 8 p21.2 24006779 24231488 + 25098204 25326536 + 25042287 25270619 + 6480464 19004829;16421571;15489334;14702039;12477932;12432077;10737800;18029348;22595969 80005 B9A015;H0Y7N4;H0YB14;Q68DL4;Q9H7D0 ABBA01005561;ABBA01005562;ABBA01005563;ABBA01005564;AC041005;AC091185;AK022242;AK024687;AK026663;AK123607;AK126249;AL832744;AMYH01018582;BC011877;BC015352;BC041761;BC057384;BC137175;BC137176;BF884637;BM450222;BX648352;CH471080;CR627414;CR749353;CR933718;NM_024940 AAH11877;AAH41761;AAI37176;AAI37177;BAB14962;BAC85660;BAC86503;CAH10503;CAH18206;CAI46248;EAW63593;EAW63594;EAW63595;NP_079216;Q9H7D0 Hs.195403 1340828;1649301;1652859;1761873;1770121;2116253;2148458;2154853;5015861;5022200;5022651;5037552;7185938 D10S16;D11S2921;D8S1489;D8S1725;D8S2106;D8S2279;G17209;L18426;RH66434;SHGC-145819;SHGC-2824;SHGC-34359 DKFZp451J181;DKFZp779M164;DKFZp781J211 OTTHUMP00000162832;dedicator of cytokinesis protein 5 protein-coding 23476 09925 VALIDATED 1315180 DOCK6 dedicator of cytokinesis 6 This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] 19 19 19 p13.2 11204784 11268011 - 11170971 11234157 - 11309969 11373168 - 1580863;6480464 15489334;14702039;12477932;12432077;10718198;20889312;21347282;23314748;20508642;21820096;16344560;17196961;23505323;20686565;21139048;21906983 57572 B7Z9U8;C9IZV6;K7EKT0;K7EP20;K7EP51;K7ERK2;K7ESB7;Q96HP0 AB037816;ABBA01029868;AC009000;AC011472;AK022412;AK295664;AK316063;AMYH01009483;BC008335;BC015424;BC051330;BC095483;BC146786;BI820302;BI822534;CH471106;CV571923;CX759906;DB303474;DC333132;NG_031953;NM_020812 AAH08335;AAH51330;AAI46787;BAA92633;BAG58526;BAH14434;EAW84179;EAW84180;EAW84181;EAW84182;EAW84183;EAW84184;NP_065863;Q96HP0 Hs.591002 2186058;5015404;5015961;5037552 D15S1477;D8S2279;G09297;L17705 AOS2;ZIR1 dedicator of cytokinesis protein 6 APPROVED protein-coding ENSG00000130158 19189 13243 614194;614219 REVIEWED 1606491 DOHH deoxyhypusine hydroxylase/monooxygenase This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] 19 19 19 p13.3 3427630 3437748 - 3441822 3451621 - 3490819 3500938 - 6480464 16371467;17213197;16452303;17476569;16533814;15489334;15057824;12477932;19706422;22927971;22908221;21139048;22190034 83475 K7EIV2;K7ERU8;Q9BU89 ABBA01002825;ABBA01002826;AC005551;AC005787;AC093052;AMYH01009313;AW195139;BC002817;BC009863;BG491509;BU624567;CH471139;NM_001145165;NM_031304 AAC33193;AAH02817;AAH09863;EAW69316;EAW69317;NP_001138637;NP_112594;Q9BU89 Hs.515064;Hs.609012 HLRC1;MGC4293;hDOHH HEAT-like (PBS lyase) repeat containing 1;HEAT-like repeat-containing protein 1;deoxyhypusine dioxygenase;deoxyhypusine hydroxylase;deoxyhypusine monooxygenase APPROVED protein-coding ENSG00000129932 28662 14627 611262 REVIEWED 1352133 DOCK7 dedicator of cytokinesis 7 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 1 1 1 p31.3 61209606 61442836 - 62692985 62926557 - 62920397 63153969 - 1580863;6480464 16982419;19240061;19060911;18426980;18193044;16710414;15963462;15489334;15324660;14702039;14676191;12477932;12432077;11329013;22916037;11214970;19913121;20628086;20972250;17148452;17643375;18193043;19060906;19615732;20056645;20379614;20864672;18850735;23383273;21900206;12938929;21139048;21532573;21906983;22586326;20686565;22286219;21963094 85440 H0Y7L2;Q8TB82;Q96NI0 AB051558;ABBA01074589;ABBA01074590;ABBA01074591;ABBA01074592;ABBA01074593;ABBA01074594;ABBA01074595;ABBA01074596;ABBA01074597;ABBA01074598;AC096946;AC103923;AK022097;AK055296;AK055401;AK055493;AK055905;AK091479;AK125049;AK292640;AK299737;AL138847;AL451044;AMYH01000667;AMYH01000668;AMYH01000669;AMYH01000670;BC016392;BC018075;BC018076;BC041813;BC112387;BG190976;BG205481;BG207092;BU567903;BU943181;BX094950;BX485492;CH471059;DQ118679;DQ118680;DQ309763;DQ341187;DR002667;NG_033073;NM_001271999;NM_001272000;NM_001272001;NM_001272002;NM_033407 AAH16392;AAI12388;AAI72250;AAZ38451;AAZ38452;ABC33725;ABC68221;BAB21862;BAB70917;BAB70933;BAB71042;BAC86032;BAF85329;BAG52372;BAG61632;EAX06582;NP_001258928;NP_001258929;NP_001258930;NP_001258931;NP_212132;Q96N67 Hs.744927 1660321;1664026;1664028;1665073;1670676;1671386;1673362;1692304;1693208;1779171;1787938;1797280;1848800;2166073;2166475;5015961;5016596;5022578;5037552;5109281 A005T17;AL009364;AL033557;AL033806;ANGPTL3_2597;D15S1477;D1S1423;D1S1425;D1S3572;D8S2279;G20478;GDB:631802;RH46994;SHGC-155426;SHGC-32281;SHGC-74895;SHGC-74916;SHGC-74917;SHGC-74924;SHGC-74934 KIAA1771;ZIR2 OTTHUMP00000015338;dedicator of cytokinesis protein 7 protein-coding ENSG00000116641 19190 16833 REVIEWED 1348065 DOCK9 dedicator of cytokinesis 9 13 13 q32.3 98243745 98536661 - 99445741 99738660 - 1580863;6480464 18729074;18056264;17935486;17728666;16344560;15489334;15057823;14702039;12477932;12432077;12172552;12168954;11991713;10470851;8889548;21145461;22889411;19745154;19809089;20379614;21139048 23348 A6H8Z6;B3KXE2;H0Y3S1;H0Y572;H7BZ79;Q5JUD3;Q5JUD8;Q6ZSL5;Q9BZ26 AB028981;ABBA01027132;ABBA01027133;AF085864;AF339774;AF527605;AK022011;AK090793;AK122987;AK126492;AK127215;AK127329;AK127508;AK294573;AK294705;AK294770;AK300298;AK300331;AL139084;AL161420;AL391122;AMYH01005324;AMYH01005325;AW450751;BC043506;BC053620;BC136274;BC146814;BC171753;BM968821;BX648707;CH471085;CR749658;CR936820;DB277756;NM_001130048;NM_001130049;NM_001130050;NM_015296 AAH43506;AAH53620;AAI36275;AAI46815;AAI71753;AAM90306;BAA83010;BAC86933;BAG54337;BAG54454;BAH11816;BAH11852;BAH11878;BAH13255;BAH13261;CAH18452;EAX08994;EAX08995;EAX08996;EAX08997;EAX08998;EAX08999;EAX09000;EAX09001;EAX09002;EAX09003;EAX09004;EAX09005;NP_001123520;NP_001123521;NP_001123522;NP_056111;Q9BZ29 Hs.596105 1342334;1662257;1694470;1737409;1737479;1770646;1782930;2111522;2113354;2113414;2114961;2122012;2131929;2137331;2163933;2172230 1672;A007C10;D13S1027;D13S1498;D13S1738;D13S1771;D13S770;D13S918;D13S984;G42960;RH45146;RH48550;RH66271;SHGC-155329;SHGC-9437;STS-W88496 DKFZp686C11110;DKFZp686D2047;DKFZp686N04132;FLJ11949;FLJ16744;FLJ44528;FLJ45282;FLJ45601;KIAA1058;KIAA1085;RP11-155N3.2;ZIZ1;ZIZIMIN1 OTTHUMP00000018601;cdc42 guanine nucleotide exchange factor zizimin-1;dedicator of cytokinesis protein 9 protein-coding ENSG00000088387 14132 09542 607325 VALIDATED 1603953 DOCK8 dedicator of cytokinesis 8 This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] 9 9 p24.3 263048 455255 + 214865 465259 + 6480464;7240710 22534316;18029348;18060736;15489334;15304341;15164053;14702039;12477932;12432077;11214971;10729223;8889548;22581261;16344560;16391785;19640199;19776401;20004785;20379614;20596660;21178271;21178272;21058221;21763205;22006977;21969276;23455509;22876580;21931011;21890473;15231748;22942019;23380217;22968740;23251661;22139419;23374272 81704 A2A369;A2A370;C9J613;C9J7A3;E2J6M5;E2J6M6;E9PDJ4;E9PHZ4;F8WC95;Q8TEP1 AB191037;ABBA01065458;ABBA01065459;ABBA01065460;AF194407;AK024436;AK074081;AK090429;AK093572;AK293353;AK310555;AL158832;AL161725;AL583913;AL832270;AMYH01019173;AMYH01019174;AMYH01019175;AY117695;BC019102;BC030518;BC043265;BC045629;BC112894;BC130518;BC143929;BG388288;BM680510;BU532484;CA503173;CH471071;DB147029;DR004867;HM991479;HM991480;NG_017007;NM_001190458;NM_001193536;NM_203447 AAG42221;AAH19102;AAH45629;AAI12895;AAI30519;AAI43930;ADK91777;ADK91778;BAB15726;BAB84907;BAC03410;BAC04199;BAE45254;BAG56869;CAC29497;CAI46160;EAW58825;EAW58826;EAW58827;EAW58828;EAW58829;EAW58830;NP_001177387;NP_001180465;NP_982272;Q8NF50 Hs.132599 1335565;1656100;1661381;1673943;1679247;1684022;1723993;2132912;2174971;2178331;2182216;2183839;5024761;5094819 A008I30;A008P36;D9S913;D9S917;G29245;MFD455-AAT;RH118948;RH36905;RH46516;RH65569;RH80320;SHGC-18075;STS-T92908;WI-17492 FLJ00026;FLJ00152;FLJ00346;MRD2;ZIR8 1200017A24Rik;OTTHUMP00000096442;OTTHUMP00000107257;OTTHUMP00000214870;dedicator of cytokinesis protein 8 APPROVED protein-coding ENSG00000107099 19191 10920 243700;611432;614113 REVIEWED 1319871 DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 2 2 p13 74635368 74638171 + 74776147 74784678 + 1580863;6480464;6484113;6907045 10799545;9008160;19481542;19481264;19299694;18353552;18156175;17092301;16823827;16537894;16338067;16177091;16094384;15815621;15592455;15574499;15570572;15546884;15541476;15489334;15345598;15144186;14702039;14647425;12606711;12595900;12522270;12477932;12087092;11927552;11825908;11551902;11278335;11071635;11042170;10940083;10852966;10823839;10822173;10669731;10585470;10567556;10202139;9790776;9737977;9221755;9110174;9008161;8619474;8152267;8125298;12660731;16153436;19682241;20139980;16344560;23028047;21078907;22974441;21536658;21690289;21856257;21796618;19823681;22252131;22514638;16273093;20467438;22190034 1796 B3KP83;H7C093;Q99704 ABBA01075602;AC005033;AF035299;AF180527;AK055944;AK127127;AK127656;AK222883;AK296154;AK300097;AK314678;AMYH01010454;BC111055;BC114440;BC114497;BQ575925;CH471053;DA382785;DA599419;NG_033047;NM_001197260;NM_001381;U70987 AAB88182;AAC51127;AAF19167;AAI11056;AAI14441;AAI14498;AAX93224;BAD96603;BAG51595;BAG54440;BAG54544;BAG58893;BAG61898;EAW99612;EAW99613;EAW99614;NP_001184189;NP_001372;Q99704 Hs.103854 2135774;2180738;5014055 D1S3697;RH48230;RH70700 MGC117395;MGC138860;P62DOK Downstream of tyrosine kinase 1;OTTHUMP00000160414;OTTHUMP00000202719;OTTHUMP00000202720;docking protein 1;docking protein 1 (downstream of tyrosine kinase 1);p62(dok);pp62 APPROVED protein-coding ENSG00000115325 2990 04228 602919 REVIEWED 1322166 DOK2 docking protein 2, 56kDa The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008] 8 8 p21.3 21822330 21827151 - 21766384 21771205 - 1580863;6480464;6484113 17043143;17353931;10799545;19299694;17092301;16189514;16177091;16094384;15831486;15592455;15489334;15144186;14647425;14645010;12777393;12665569;12522270;12477932;11689432;11470823;11254695;10856136;10822173;10508618;9764820;9478921;16823827;22130622;21078907;21116278;19913121;20628086;10428862;19786546;20139980;21749457;21329978;21890473;21044950 9046 E5RIG9;E5RJ11;G3V114;G3V1Q1;O60496 ABBA01005496;AC087363;AF034970;AK226110;AK292126;AK296671;AL545478;AMYH01018562;BC032623;BQ067133;CB270269;CH471080;NM_003974 AAC13265;AAH32623;ABM87807;ABM92167;BAF84815;BAG59268;EAW63739;NP_003965;O60496 Hs.71215 2108033;2182902 DOK2_8887;RH66760 p56DOK;p56dok-2 OTTHUMP00000161710;OTTHUMP00000224923;docking protein 2;downstream of tyrosine kinase 2;p56(dok-2) APPROVED protein-coding ENSG00000147443 2991 05411 604997 REVIEWED 1343098 DOK5 docking protein 5 The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. In contrast to other DOK family proteins, this protein does not interact with RASGAP. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49796955 49972466 + 52525673 52701117 + 53092266 53267710 + 1580863;6480464 16647839;16189514;15489334;12730241;12595900;12477932;12454490;11780052;11470823;15286081;20187968;20215924;20734064 55816 Q9P104 ABBA01052873;ABBA01052874;AF132732;AF466368;AK313222;AL035667;AL050069;AL118501;AL162292;AMYH01011996;BC008992;BI758267;BI916998;CH471077;NM_018431 AAF66443;AAH08992;AAL74194;CAB43255;EAW75570;EAW75571;NP_060901;Q9P104 Hs.656582 1652175;1703704;1704368;1772204;1857262;2116909;2161286;2180829 1438;AL031196;AL031210;RH64156;SHGC-78183;SHGC-78865;WI-15702;Z94705 C20orf180;MGC16926 IRS-6;IRS6;OTTHUMP00000031322;docking protein 5;downstream of tyrosine kinase 5;insulin receptor substrate 6 APPROVED protein-coding ENSG00000101134 16173 16317 608334 REVIEWED 1320786 DOK4 docking protein 4 16 16 16 q21 42006722 42021228 - 56063374 56077828 - 57505870 57520385 - 6480464 19073520;17443497;16820412;15489334;14702039;12730241;12595900;12477932;11470823;10493829;19494292;22982678;19322201 55715 H3BN90;H3BPY9;H3BQ19;H3BS85;H3BSK0;H3BST9;H3BTI4;H3BTI7;H3BTK2;H3BV67;H3BVB4;Q8TEW6 ABBA01025272;AC004382;AC009052;AF466369;AK001350;AK307270;AK315426;AMYH01007702;AW163719;BC001540;BC003541;CH471092;NM_018110 AAC24310;AAH01540;AAH03541;AAL74195;ABM83934;ABM87253;BAA91642;BAG37814;EAW82932;EAW82933;EAW82934;NP_060580;Q8TEW6 Hs.279832 1736592;1769048;1853842;2152580;2153911;2189445 D16S2566E;D16S2591E;D16S3334;MARC_6240-6241:992007189:1;RH78396;STS-J05448 FLJ10488 IRS-5;IRS5;OTTHUMP00000164664;docking protein 4;downstream of tyrosine kinase 4;insulin receptor substrate 5 protein-coding ENSG00000125170 19868 16316 608333 VALIDATED 1323508 DOK3 docking protein 3 5 5 5 q35.3 171564313 171572830 + 176863357 176869459 - 176928905 176937427 - 6480464 10567556;16436051;16344560;15489334;14993273;14702039;12595900;12477932;11470823;10733577;19682241;20139980;22761938;23223229;21822214;23128233;19380743;20697350 79930 D6R951;D6R977;D6RAM3;D6RAV2;D6RAZ9;D6RC22;D6RF29;Q7L591 ABBA01033452;ABBA01033453;AC145098;AK026223;AK097258;AL833678;AMYH01015876;BC004564;BC004867;CH471195;DA674730;DA931137;NM_001144875;NM_001144876;NM_024872 AAH04564;AAH04867;BAB15399;BAC04986;EAW84982;EAW84983;EAW84984;NP_001138347;NP_001138348;NP_079148;Q7L591 Hs.720849 1645087;1853021;2119595 A002K19;G16059;RH47489 DOKL;FLJ22570;FLJ39939 Dok-like protein;OTTHUMP00000161439;OTTHUMP00000223809;OTTHUMP00000223810;OTTHUMP00000223811;OTTHUMP00000223816;docking protein 3;downstream of tyrosine kinase 3 protein-coding ENSG00000146094 24583 16834 611435 VALIDATED 1346452 DOK6 docking protein 6 DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008] 18 18 18 q22.2 63915922 64363842 + 65219271 65660373 + 67068284 67516323 + 6480464 14702039;20210798;15489334;15286081;12477932;20548944;20379614 220164 J3KTH4;Q6PKX4 ABBA01056283;ABBA01056284;ABBA01056285;ABBA01056286;ABBA01056287;AC026585;AC068254;AC090231;AC119868;AK057795;AL512695;AMYH01009074;AMYH01009075;AY599248;BC008583;BC019045;BC096744;BX280184;CH471117;DB480182;NM_152721 AAH08583;AAH19045;AAH96744;AAT09770;BAB71577;EAW66514;NP_689934;Q6PKX4 Hs.278285 1334652;1337627;1339688;1650012;1650014;1653055;1694788;1709562;1713589;1715007;1717497;1723769;1734598;1754585;1756607;1760807;1783712;2115902;2121121;2137228 D18S1092;D18S61;D18S817;D18S946E;G43612;L29699;RH118621;RH120291;RH120840;RH122254;RH78400;SGC35852;SHGC-132873;SHGC-143643;SHGC-144351;SHGC-154843;SHGC-35944;SHGC-36873;SHGC-53895;SHGC-81871 DOK5L;HsT3226;MGC20785 docking protein 5-like;docking protein 6;downstream of tyrosine kinase 6 APPROVED protein-coding ENSG00000206052 28301 13244 611402 VALIDATED 1604958 DOK7 docking protein 7 The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 4 4 p16.3 3434831 3466007 + 3465033 3496209 + 6480464;7240710 19244212;18626973;18165682;18161030;17439981;16917026;16794080;16344560;15489334;14702039;12477932;20012313;20371544;19261599;8889548;20610155;20554332;20603078;21305573;22661499;17452375;18180250;18540360;18567858;18707767;19108574;19837590;20147321;20458068;21504746;21747134;21952943;21975507;22353287;20301347;23054610;23278577 285489 Q18PE1;Q8N1M3 AB220918;ABBA01029467;ABBA01029468;AK075037;AK091037;AK096456;AL590235;AMYH01013890;AMYH01013891;BC043568;BC062369;BC131544;BC141852;BM684814;CH471131;DA205628;DA823926;NG_013072;NM_001164673;NM_001256896;NM_173660 AAH43568;AAH62369;AAI31545;AAI41853;BAC03572;BAC04795;BAC11367;BAE96739;EAW82463;NP_001158145;NP_001243825;NP_775931;Q18PE1 Hs.122110;Hs.701584 1730031;7184649 D4S125 C4orf25;CMS1B;Dok-7;FLJ33718;FLJ39137;FLJ90556 OTTHUMP00000194785;OTTHUMP00000216837;downstream of tyrosine kinase 7;protein Dok-7 APPROVED protein-coding ENSG00000175920 26594 08744 208150;254300;610285 REVIEWED 1321943 DOLK dolichol kinase The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010] 9 9 9 q34.11 102359670 102361873 - 130747630 130749833 - 131707809 131710012 - 1580863;6480464;6907045 12975309;16923818;12213788;17273964;15489334;15164053;12477932;10470851;21139048;22242004;20301507 22845 B4DTE7;Q9UPQ8 AB029017;ABBA01043908;AK300180;AL672142;AMYH01021754;AY358759;BC035556;BF056649;CH471090;NG_017009;NM_014908 AAH35556;AAQ89119;ADZ15912;BAA83046;BAG61959;EAW87849;NP_055723;Q9UPQ8 Hs.531563 1813634;1814092;1818534;1820248;1844546;1931824;1931826;1931828;1931830;1931832;1931834;1931836;1931838;1931840;1931842;1931844;1931846;1931848;1931850;2108579;2208078;2208080;2208082 ECD07840;ECD08075;ECD10329;ECD11198;ECD23487;REN36741;REN36742;REN36743;REN36744;REN36745;REN36746;REN36747;REN36748;REN36749;REN36750;REN36751;REN36752;REN36753;REN36754;TMEM15_9275;stSG628087;stSG628088;stSG628089 CDG1M;DK;DK1;KIAA1094;SEC59;TMEM15 OTTHUMP00000022307;SEC59 homolog;dolichol kinase;dolichol kinase 1;transmembrane protein 15 APPROVED protein-coding ENSG00000175283 23406 15525 610746 REVIEWED 1316643 DOLPP1 dolichyldiphosphatase 1 A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 9 9 9 q34.1 102495681 102505015 + 130883227 130892538 + 131843383 131852717 + 1580863;6480464;6907045 16344560;15489334;15164053;12477932;12198133;10369878;6243292;19322201 57171 H7BXT6;H7C1Z8;Q86YN1;Q8IUV4 ABBA01043915;ABBA01043916;AK290713;AK293627;AL592211;AMYH01021754;AY189675;BC009493;BC022553;BC033686;BC040152;BC067858;CH471090;DA590931;NM_001135917;NM_020438;NR_072983;Y17455;Y17456 AAH09493;AAH33686;AAH40152;AAO34712;BAF83402;BAG57084;CAB44348;CAB44349;EAW87867;EAW87868;EAW87869;EAW87870;EAW87871;EAW87872;NP_001129389;NP_065171;Q86YN1 Hs.21701 1800588;1803852;1809652;1809806;1810072;1819208;1820022;1831844;1839330;1842490;1842676;1843176;1843234;1844548;1844892;1930942;1930944;1930946;1930948;1930950;1930952;1930954;1930956;1930958;1930960;1930962;1930964;1930966;1930968;1930970;1930972;1930974;1930976;1930978;1930980;1930982;1930984;1930986;1930988;1930990;1930992;1930994;1930996;1930998;1931000;1931002;1931004;1931006;1931008;1931010;1931012;1931014;1931016;1931018;1931020;1931022;1931024;1931026;1931028;1931030;1931032;1931034;1931036;2127474;2138888;2208246;2208248;2208250;2208252;2208254;2208256;2208258 ECD01155;ECD02837;ECD05818;ECD05895;ECD06028;ECD10671;ECD11083;ECD17060;ECD20846;ECD22451;ECD22545;ECD22796;ECD22825;ECD23488;ECD23662;REN36300;REN36301;REN36302;REN36303;REN36304;REN36305;REN36306;REN36307;REN36308;REN36309;REN36310;REN36311;REN36312;REN36313;REN36314;REN36315;REN36316;REN36317;REN36318;REN36319;REN36320;REN36321;REN36322;REN36323;REN36324;REN36325;REN36326;REN36327;REN36328;REN36329;REN36330;REN36331;REN36332;REN36333;REN36334;REN36335;REN36336;REN36337;REN36338;REN36339;REN36340;REN36341;REN36342;REN36343;REN36344;REN36345;REN36346;REN36347;RH18168;SHGC-32219;stSG628178;stSG628179;stSG628180;stSG628181;stSG628182;stSG628183;stSG628185 LSFR2 OTTHUMP00000022326;OTTHUMP00000196902;dolichyldiphosphatase 1;linked to Surfeit genes in Fugu rubripes 2 APPROVED protein-coding ENSG00000167130 29565 16835 614156;614516 REVIEWED 1313616 DOPEY1 dopey family member 1 6 6 6 q15 84210683 84311433 + 83834104 83934846 + 83777385 83878190 + 6480464 16301316;16303751;14702039;12477932;10931277;10470851;21139048 23033 B2RWN9;B3KT12;Q5JWR5;Q5TA12 AB029040;ABBA01040449;AK027030;AK092929;AK094766;AL050080;AL121716;AL139333;AMYH01016468;BC036257;BC048342;BC144544;BC144545;BC150619;BX648667;CH471051;NM_001199942;NM_015018 AAH48342;AAI44545;AAI50620;BAA83069;BAB15631;BAG52924;CAB43259;EAW48672;EAW48673;EAW48674;EAW48675;EAW48676;NP_001186871;NP_055833;Q5JWR5 Hs.520246;Hs.708998 1750837;1769666;1781108;2162933 A003M25;SHGC-104531;STS-H71321;stD6S367E.1 FLJ35610;KIAA1117;dJ202D23.2 OTTHUMP00000017983;OTTHUMP00000017984;homolog of yeast DOP1;protein dopey-1 protein-coding ENSG00000083097 21194 10022 VALIDATED 1314515 DOPEY2 dopey family member 2 21 21 21 q22.2 22735540 22864978 + 36458709 36588442 + 37536839 37666572 + 6480464 10950924;16301316;19460634;16303751;16276086;12767918;12477932;12168954;10931277;10830953;10231032;9503011;20379614;21139048;21890473 9980 F8W8U9;Q9Y3R5 AB023150;ABBA01057384;ABBA01057385;ABBA01057386;ABBA01057387;ABBA01057388;ABBA01057389;ABBA01057390;ABBA01057391;AJ001857;AJ237839;AK025095;AK026478;AMYH01012225;AMYH01012226;AP000689;AP000690;AP000691;AP000692;AP001725;BC012791;CH471079;NM_005128;W15495 AAH12791;AAI56375;BAA76777;BAA89431;BAA95548;CAB41415;EAX09743;EAX09744;NP_005119;Q9Y3R5 Hs.204575 1647280;1730672;1784452;2116680;2120460;2122103;2152779;2152781;5015404;5016478;5020414;5022200;5022576;5022578 D1S1361;D1S1423;D21S333;G34590;GDB:434012;L17688;L17705;L18426;RH47816;SHGC-154980;SHGC-51925;SHGC-9549;SHGC-9555;SHGC-9922 21orf5;C21orf5 OTTHUMP00000109015;homolog of yeast DOP1;pad-1-like;protein dopey-2 protein-coding ENSG00000142197 1291 07271 604803 VALIDATED 1348619 DOM3Z dom-3 homolog Z (C. elegans) This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33537350 33539794 - 32045567 32048011 - 31937588 31940032 - 1580863;6480464 15231747;19204726;15489334;14667819;14656967;14574404;12477932;10686478;10072631;9799600;19913121;20628086;23263863 1797 F8WC68;H7C5D2;Q9NPK4 ABBA01038100;AF019413;AF059252;AF059253;AF059254;AL049547;AL645922;AL662849;AL844853;AMYH01016223;BC009344;BC019083;BC030235;BC050618;BC058885;BC071651;CH471081;CR753822;CR753845;CR759782;NM_005510 AAB67983;AAC78603;AAC78604;AAC78605;AAH09344;AAH19083;ABM83967;ABM87283;CAB89305;CAB89306;EAX03558;EAX03559;EAX03560;EAX03561;EAX03562;EAX03563;EAX03564;EAX03565;NP_005501;O77932 Hs.153299 2178940;5022012 DOM3Z;WI-16314 DOM3L;DXO;NG6;RAI1 OTTHUMP00000029408;OTTHUMP00000029410;OTTHUMP00000174711;OTTHUMP00000216105;decapping and exoribonuclease protein;protein Dom3Z APPROVED protein-coding ENSG00000204348 2992 16186 605996 REVIEWED 1603397 DONSON downstream neighbor of SON This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008] 21 21 21 q22.1 20149845 20160634 - 33872081 33882884 - 34949857 34961014 - 6480464 15489334;14759258;14702039;12477932;12036298;10950926;10773462;8889548;20942939;17567994;17571346;21906983;22079093 29980 C9J4K5;C9JSP0;F8W8A5;F8WC22;F8WD19;H7C006;H7C1C1;H7C1M7;H7C304;Q9NYP3 ABBA01057351;AF232673;AF232674;AF232675;AK001274;AK074964;AMYH01012211;AP000304;BC048266;BI463648;BM451848;BM679236;CH471079;NM_017613 AAF72947;AAF72948;AAF72949;AAH48266;BAC11320;EAX09812;NP_060083;Q9NYP3 Hs.436341 1340572;1660087;1674305;1689239;1695632;1716519;1803054;1804130;1812024;1812570;1820404;1820906;1822710;1824792;1824946;1825594;1828868;1830434;1830566;2029612;2029632;2029634;2029636;2029638;2029640;2029642;2029644;2029646;2029648;2029650;2029652;2029654;2029656;2029658;2029660;2029662;2029664;2029666;2029668;2029670;2029672;2029674;2029676;2029678;2029680;2029682;2029684;2029686;2029688;2029690;2029692;2029694;2029696;2029698;2029700;2029702;2029704;2029706;2029708;2029710;2029712;2029714;2029716;2029718;2029720;2029722;2101426;2101428;2101430;2101432;2101434;2130687;5023733 AU048745;D21S1910;D21S2037;ECD02418;ECD02983;ECD07017;ECD07295;ECD11277;ECD11529;ECD12443;ECD13494;ECD13572;ECD13905;ECD15561;ECD16351;ECD16419;G48507;REN85812;REN85822;REN85823;REN85824;REN85825;REN85826;REN85827;REN85828;REN85829;REN85830;REN85831;REN85832;REN85833;REN85834;REN85835;REN85836;REN85837;REN85838;REN85839;REN85840;REN85841;REN85842;REN85843;REN85844;REN85845;REN85846;REN85847;REN85848;REN85849;REN85850;REN85851;REN85852;REN85853;REN85854;REN85855;REN85856;REN85857;REN85858;REN85859;REN85860;REN85861;REN85862;REN85863;REN85864;REN85865;REN85866;REN85867;RH121545;RH80128;SHGC-87590;STS-Z41061;stSG607283;stSG607284;stSG607286;stSG607289;stSG607291 B17;C21orf60;C2TA;DKFZp434M035 MHC class II transactivator type I;OTTHUMP00000068642;OTTHUMP00000068643;OTTHUMP00000108288;OTTHUMP00000206684;OTTHUMP00000206685;protein downstream neighbor of Son APPROVED protein-coding ENSG00000159147 2993 09926 611428 VALIDATED 1315376 DOT1L DOT1-like histone H3K79 methyltransferase The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011] 19 19 p13.3 2115148 2181015 + 2164148 2232577 + 1580863;1359080;6480464;6907045;7242554 12628190;22194015 16751776;12123582;11347906;18449190;18391950;18285465;17855633;17094487;15851025;14702039;12693554;12477932;20431927;16636056;17332896;19266077;19443658;19734945;19799466;19864429;20203130;20208522;17707234;20546612;19491102;20734064;20153263;20854876;21741597;23012353;21030982;22002246;22566624;22190683;21726816;23505243;22373577;21873227;22388813;22619169;21896721;20881960;22094252 84444 C9JH95;H7BZ90;H7C2S2;H7C3N3;Q8TEK3 AB058717;ABBA01002713;ABBA01002714;AC004490;AC005257;AC005263;AC093456;AF509504;AK074120;AK095280;AL080221;AMYH01009276;AMYH01009277;AMYH01009278;BC021037;BC032803;CH471139;DQ595517;NG_029793;NM_032482 AAC08316;AAI56104;AAM88322;BAB47443;BAB84946;EAW69408;EAW69409;EAW69410;EAW69411;NP_115871;Q8TEK3 Hs.713641 1847492;5014051;5022425;5037552 A006Z36;D22S296;D8S2278;D8S2279 DKFZp586P1823;DOT1;KIAA1814;KMT4 DOT1-like protein;DOT1-like, histone H3 methyltransferase;H3-K79-HMTase;OTTHUMP00000197347;OTTHUMP00000197349;histone H3-K79 methyltransferase;histone methyltransferase DOT1L;histone-lysine N-methyltransferase, H3 lysine-79 specific;lysine N-methyltransferase 4 APPROVED protein-coding ENSG00000104885 24948 10455 607375 REVIEWED 1601768 DPCD deleted in primary ciliary dyskinesia homolog (mouse) 10 10 10 q24.32 97086875 97108196 + 103338079 103359400 + 103348089 103369410 + 6480464 17353931;16189514;14630615;12477932;16385451;17643375;17207965;21832049;21139048 25911 B4DJT1;Q5JQQ2;Q5JQQ4;Q9BVM2 ABBA01063192;ABBA01063193;AK290154;AL110240;AL627424;AMYH01003008;AY532267;BC001082;BC031695;CH471066;NM_015448 AAH01082;AAH31695;AAS46252;ACE86949;ACE87638;ADQ32437;BAF82843;CAB53691;EAW49754;EAW49755;NP_056263;Q9BVM2 Hs.658128 2185932;2191581 MARC_26712-26713:1034100689:1;WI-15144 DKFZp566F084;RP11-529I10.4 OTTHUMP00000020329;OTTHUMP00000020331;deleted in a mouse model of primary ciliary dyskinesia;protein DPCD APPROVED protein-coding ENSG00000166171 24542 13247 PROVISIONAL 1346376 DPCR1 diffuse panbronchiolitis critical region 1 6 6 6 p21.33 32506887 32520107 + 31027538 31029977 + 30908777 30921998 + 6480464 16702430;12477932;12185533;10677310;19851445;20041166;17207965;21832049;22152429;23284291;23453885 135656 E9PEI6;Q3MIW9;Q5SS95 AB064272;AB110931;AB110932;AB202102;ABBA01038067;AL662854;AL669830;AL773541;AL833738;AMYH01016208;BC069477;BC101661;BC101663;CH471081;CR759747;CR936875;NM_080870 AAH69477;AAI01662;AAI01664;ACE86607;ACE87288;ADQ32893;BAB82383;BAD13697;BAD13698;BAE78623;CAH56248;EAX03351;NP_543146;Q3MIW9 Hs.631993 5493009;5493997 UniSTS:480685;UniSTS:483732 MGC126710;MGC126712;PBLT;bCX105N19.6 OTTHUMP00000029138;diffuse panbronchiolitis critical region 1 protein;diffuse panbronchiolitis critical region protein 1 protein-coding ENSG00000168631 21666 16073 613928 VALIDATED 1350537 DPEP1 dipeptidase 1 (renal) The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012] 16 16 q24.3 88214501 88232338 + 89679716 89704839 + 1580863;6480464 2303490;16189514;15489334;15340161;15145522;12477932;12144777;10425712;8507661;8439558;8097406;7764673;7682195;6334084;6122685;2768222;2168407;2137335;20824289;20031578;21076463;19879002;8737157;22363658;11487543 1800 H3BP43;H3BQS5;P16444 ABBA01014140;ABBA01014141;ABBA01014142;AC010538;AK309577;AMYH01007936;AMYH01007937;AMYH01007938;BC017023;BM152944;BT006664;CH471184;CR457404;D13137;D13138;J05257;NM_001128141;NM_004413;S70330 AAB59410;AAC60630;AAH17023;AAP35310;ABM81640;ACE86793;ACE87480;BAA02430;BAA02431;CAG33685;EAW66719;EAW66720;NP_001121613;NP_004404;P16444 Hs.109 1688014 RH80289 MBD1;MDP;RDP OTTHUMP00000175356;dehydropeptidase-I;dipeptidase 1;hRDP;microsomal dipeptidase;renal dipeptidase APPROVED protein-coding ENSG00000015413 3002 01563 179780 REVIEWED 1349923 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008] 11 11 q23.3 118472423 118477995 - 118967213 118972785 - 1580863;6480464;6907045;7240710 12417423;8179616;12872255;16344560;15489334;14702039;12855228;12618564;12592703;12477932;11805072;10024536;9451016;8889548;8244387;8125298;3038274;21145461;19519349;19549906;20693288;17207965;21048031;21906983;21963094;21988832;22341307;22742743;22304930;20301507;22505724;23278575 1798 E7EW40;F8W681;F8WE55;H7C2L6;Q9H3H5 AA833740;ABBA01039679;AF070443;AK095122;AK095718;AK128572;AK225994;AK301973;AK312783;AMYH01004080;AP003391;BC000325;BC047771;BM982950;BT006802;CH471065;DA023424;G29019;NG_008918;NM_001382;Z82022 AAG43168;AAH00325;AAH47771;AAP35448;ADQ31680;BAG35646;BAG54694;BAG63385;CAB04787;EAW67452;EAW67453;EAW67454;EAW67455;NP_001373;Q9H3H5 Hs.524081 2108035;2122072;2124953 D11S366;DPAGT1_8310;STS-R55620 ALG7;CDG-Ij;CDG1J;CMSTA2;D11S366;DGPT;DPAGT;DPAGT2;G1PT;GPT;UAGT;UGAT GlcNAc-1-P transferase;N-acetylglucosamine-1-phosphate transferase;OTTHUMP00000204052;OTTHUMP00000204055;UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase;UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase;dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra;dolichyl-phosphate alpha-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000172269 2995 01879 191350;608093;614750 REVIEWED 1606329 DPF1 D4, zinc and double PHD fingers family 1 19 19 19 q13.2 35503879 35522555 - 43394187 43406628 - 38701649 38720317 - 6480464 14702039;8812431;12477932;16169070;20400511;22939629;22334708 8193 C9IZH8;C9JGC1;E9PDV3;F8WEC4;J3KQY6;K7EJD5;Q6PJ73;Q92782 ABBA01040667;ABBA01040668;ABBA01040669;AC011479;AI857563;AK094632;AK127198;AK297581;AK308563;AL529673;AMYH01009776;AMYH01009777;BC021191;BC125152;BC125153;CH471126;GQ358728;NM_001135155;NM_001135156;NM_004647;U43843 AAC50685;AAH21191;AAI25153;AAI25154;ACU65923;BAG52900;BAG59970;EAW56760;EAW56761;EAW56762;EAW56763;NP_001128627;NP_001128628;NP_004638;Q92782 Hs.631576 1847818;2107023;5022651;5491415 D11S2921;DPF1_7914;MARC_11471-11472:1000830149:1;RH66771 BAF45b;MGC150428;MGC150429;NEUD4;neuro-d4 BRG1-associated factor 45B;OTTHUMP00000211611;OTTHUMP00000211612;OTTHUMP00000211613;OTTHUMP00000211614;OTTHUMP00000211615;OTTHUMP00000211635;neuro-d4 homolog;zinc finger protein neuro-d4 protein-coding ENSG00000011332 20225 03393 601670 VALIDATED 1313962 DPEP2 dipeptidase 2 DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008] 16 16 16 q22.1 52529750 52541821 - 66578798 66590857 - 68021293 68033421 - 1580863;6480464 16344560;16335952;15489334;14702039;12975309;12738806;12477932;18193043;21555454;15342556 64174 I3L248;I3L348;I3L4H3;J3KSU4;J3QLL2;Q9H4A9 ABBA01025468;ABBA01025469;AC040162;AJ295149;AK092884;AK298003;AK315090;AMYH01007754;AY358454;BC024021;BP299049;CB528462;CH471092;DA677374;DB038910;NM_022355 AAH24021;AAQ88819;BAG37555;BAG52621;BAG60309;CAC14667;EAW83200;EAW83201;EAW83202;EAW83203;EAW83204;NP_071750;Q9H4A9 Hs.372633 1770010;2175471 SHGC-60762;SHGC-60842 MBD2 OTTHUMP00000174846;dipeptidase 2 APPROVED protein-coding ENSG00000167261 23028 07011 609925 VALIDATED 1319176 DPF3 D4, zinc and double PHD fingers, family 3 This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 14 14 14 q24.2 53199840 53423988 - 72206413 72430562 - 73136660 73360809 - 1580863;6480464 20400511;8812431;18978678;18765789;16344560;16109180;14702039;12477932;11845289;11329013;20613843;22334708 8110 F5H575;F8W7T1;G5EA56;Q92784 ABBA01030778;ABBA01030779;ABBA01030780;ABBA01030781;ABBA01030782;ABBA01030783;AC004828;AC006360;AC007160;AK024141;AK123045;AK124615;AK124946;AK126074;AK126933;AK294425;AL392024;AMYH01005838;AMYH01005839;AMYH01005840;AY803021;BC026305;BC060801;BG218220;CH471061;DA010060;DA407279;DB140241;DB172058;NM_001280542;NM_001280543;NM_001280544;NM_012074;U43919 AAC50686;AAH60801;AAX20019;ABZ92269;BAB14838;BAC86753;BAH11762;EAW81076;EAW81077;EAW81078;EAW81079;EAW81080;NP_001267471;NP_001267472;NP_001267473;NP_036206;Q92784 Hs.162868 1340829;1644153;1645820;1646240;1649329;1651218;1651243;1651939;1654916;1656124;1658846;1659915;1662491;1663109;1667235;1670900;1672819;1674013;1694852;1697338;1750341;1757037;1769675;1769996;1770526;1770528;1771146;1771958;1772577;1772858;1773304;1777431;1777808;1783128;1789068;1848623;1850516;1851874;1852839;1852841;2112136;2112160;2114315;2117678;2118064;2123720;2124922;2125472;2130216;2130355;2130421;2134434;2134436;2135823;2139360;2140917;2143008;2144765;2145832;2150008;2153051;2153746;2155627;2158646;2158717;2161118;2163276;2163858;2165803;2170643;2174386;2176242;2176255;2177971;2179071;2219080;7187453 2202;A003A38;D14S1359;D14S1389;D14S268;D14S620;D14S686E;D14S844;D14S970;DPF3_3903;G35355;G35438;G35492;G35604;G35666;G35723;G35999;G36010;G36180;G38089;G38090;G38096;G38101;G38102;G38103;G38104;G38107;G38109;G38110;G38111;G38112;G38113;G38114;G38115;G38144;G38148;G38149;G38150;G38162;G38166;G38171;G38178;G38179;G38187;G38188;G38189;G38232;G38236;G38237;G38239;G38242;G38280;G38290;G38291;G38303;G38304;G38305;G38306;G38307;G38308;G38310;G38330;G44295;G65728;RH102166;RH44926;RH68451;RH69749;RH70379;RH78827;SHGC-112521;SHGC-144397;SHGC-171913;SHGC-31147;WI-14203;WI-15247 BAF45C;CERD4;FLJ14079 2810403B03Rik;BAF45C;BRG1-associated factor 45C;OTTHUMP00000245909;OTTHUMP00000245910;OTTHUMP00000245911;OTTHUMP00000245912;cer-d4 homolog;zinc finger protein DPF3;zinc finger protein cer-d4 protein-coding ENSG00000205683 17427 03395 601672 REVIEWED 1343930 DPH3P1 diphthamide biosynthesis 3 pseudogene 1 This gene may represent a processed pseudogene of DPH3, GeneID: 285381, because it lacks the exon/intron structure found in the functional gene. However, it does contain an intact open reading frame and it has not been established that the predicted protein is not translated. The NCBI RefSeq Project continues to treat this as a protein coding gene in agreement with the HGNC and Swiss-Prot. [provided by RefSeq, Feb 2009] 20 20 20 q13.33 58152507 58153574 + 60946061 60947709 + 61476476 61477543 + 1580863;6480464 11780052 100132911 Q9H4G8 ABBA01021373;AL035669;AMYH01012064;CH471077;NM_080750 EAW75332;NP_542788;Q9H4G8 Hs.126248 5015619;5015861;7185938 D10S16;D11S3114 C20orf143;DPH3B;ZCSL1;dJ885L7.5 CSL-type zinc finger-containing protein 1;DPH3 homolog B (KTI11, S. cerevisiae);DPH3, KTI11 homolog pseudogene 1;DPH3B, KTI11 homolog B;putative DPH3 homolog B;zinc finger, CSL domain containing 1;zinc finger, CSL-type containing 1 APPROVED protein-coding 16136 PROVISIONAL 1313538 DPEP3 dipeptidase 3 This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52518023 52522909 - 66567067 66571867 - 68009566 68014452 - 1580863;6480464 16344560;15489334;14702039;12975309;12738806;12477932;19060910;21555454 64180 Q9H4B8 ABBA01025468;AC040162;AJ291679;AK057401;AMYH01007754;AY358390;BC037243;BC057789;CH471092;DB020973;HC006938;NM_001129758;NM_022357 AAH57789;AAQ88756;BAG51910;CAC15385;CBH19274;EAW83197;EAW83198;EAW83199;NP_001123230;NP_071752;Q9H4B8 Hs.302028 MBD3 OTTHUMP00000174848;dipeptidase 3;membrane-bound dipeptidase 3;metallopeptidase (family M19) APPROVED protein-coding ENSG00000141096 23029 07012 609926 REVIEWED 1352320 DPH1 DPH1 homolog (S. cerevisiae) Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008] 17 17 17 p13.3 1950015 1963371 + 1933431 1946725 + 1933431 1946725 + 6480464 8603384;15485916;14702039;12621583;12477932;11527402;11013075;10519411;8616839;20308539;21487939;21139048;21890473;21906983;21987572;18931663;22797925 1801 B3KQW7;I3L1H5;I3L3X9;K7EQQ6;Q9BZG8 ABBA01054687;ABBA01054688;AC090617;AC099684;AF321876;AK090530;AK098268;AK297947;AK314015;AL580693;AMYH01008006;BC003099;BC013205;BC096086;BC096087;BC096088;BC096089;BP417755;BT019878;CH471108;NM_001383;S81752;U34880 AAB36297;AAD10198;AAH03099;AAH96088;AAK13428;AAV38681;ABM82784;ABM85973;BAG36726;BAG52179;BAG60262;EAW90567;EAW90569;NP_001374;Q9BZG8 Hs.513856 1655243;1720279;1746083;1746661;1746663;1746665;1746667;1746669;1746671;1746673;1746675;1746677;1746679;1746681;1775180;2156718;5014051;5020740;5022651;5024413;5037552 D11S2921;D8S2278;D8S2279;G54857;G54876;G54878;G54879;G54880;G54881;G54882;G54884;G54885;G54886;G54887;G54888;L17809;L17877;RH123888;RH18399;RH78032;WI-14017 DPH2L;DPH2L1;FLJ33211;OVCA1 DPH-like 1;DPH2-like 1;candidate tumor suppressor in ovarian cancer 1;diphthamide biosynthesis protein 1;diphthamide biosynthesis protein 2 homolog-like 1;diphthamide biosynthesis protein 2-like;diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1;diptheria toxin resistance protein required for diphthamide biosynthesis-like 1;dph2-like 1 (s. cerevisiae);hsDph1;ovarian cancer-associated gene 1 protein;ovarian tumor suppressor candidate 1 APPROVED protein-coding ENSG00000108963 3003 04634 603527 VALIDATED 1312184 DPH2 DPH2 homolog (S. cerevisiae) This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34 42719187 42722577 + 44208240 44211630 + 44435653 44439043 + 6480464 15485916;14702039;12477932;9782084;8406038;7559470;20379614;16341674;21139048;21906983 1802 B4DNI8;E9PIY4;E9PJH6;E9PLL2;E9PMH7;E9PPU3;H0YCR5;H0YED1;Q9BQC3 AA252672;ABBA01050936;AF053003;AK091303;AK297933;AK315506;AL357079;AMYH01000563;BC001389;BC003181;BC016956;BM794530;BQ215136;BT007431;BX362196;CH471059;NM_001039589;NM_001384 AAC18086;AAH01389;AAH03181;AAH16956;AAP36099;BAG37890;BAG52330;BAG60250;EAX07070;EAX07071;NP_001034678;NP_001375;Q9BQC3 Hs.632398 1680619;1695000;1788604;2110373 DPH2L2_8312;G44713;MARC4093-4094;RH67811 DPH2L2 DPH2-like 2;OTTHUMP00000010007;OTTHUMP00000231247;diphthamide biosynthesis protein 2;diphthamide biosynthesis protein 2 homolog-like 2;diphthamide biosynthesis-like protein 2;diptheria toxin resistance protein required for diphthamide biosynthesis-like 2;dph2-like 2 (s. cerevisiae);hsDph2 APPROVED protein-coding ENSG00000132768 3004 16023 603456 REVIEWED 1323292 DPF2 D4, zinc and double PHD fingers family 2 The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008] 11 11 11 q13 62427688 62446793 + 64857922 64877027 + 65101225 65120451 + 1580863;6480464 7961935;17081983;15489334;15302935;14743216;14702039;12477932;11845289;9680388;9253601;8812431;21145461;20460684;18029348;18809673;19759913;20400511;19454010;20571937;23275444;23281010;18255255;22939629;22990118;21888896;19850743;20360068;21139048;21890473;21906983;19471022;20305087;22334708;21628590 5977 B4DT58;E9PN04;H0YEI1;J3KMZ8;Q92785 ABBA01024128;ABBA01024129;AF001433;AK096796;AK291944;AK300061;AK313408;AMYH01003718;AMYH01003719;AP000944;AY220877;BC014889;BT006718;BX641135;CH471076;DB500335;NM_006268;U43920;U94585 AAB58307;AAB81203;AAC50687;AAH14889;AAO26041;AAP35364;ABM83323;ABM86538;BAF84633;BAG61870;EAW74375;EAW74376;EAW74377;NP_006259;Q92785 Hs.13495 1673598;1712124;1774397;1789997;1847577;1856918;2156479;2191487;5022200;5022651;5024039;5037552;5037554;5118444 D11S2302E;D11S2921;D11S3316;D16S325;D6S1214E;D8S2279;D8S2282;G33111;G54111;L18426;MARC_23907-23908:1042828544:1;RH45882;SHGC-53496;csnpreq-pcr1-1 MGC10180;REQ;UBID4;ubi-d4 BAF45D;BRG1-associated factor 45D;OTTHUMP00000231631;OTTHUMP00000231633;apoptosis response zinc finger protein;protein requiem;requiem, apoptosis response zinc finger;zinc finger protein ubi-d4 APPROVED protein-coding ENSG00000133884 9964 03394 601671 REVIEWED 1312556 DPH7 diphthamide biosynthesis 7 WDR85 is a WD repeat-containing protein that plays a role in the first step of diphthamide biosynthesis (Carette et al., 2009 [PubMed 19965467]).[supplied by OMIM, Feb 2010] 9 9 9 q34.3 110973625 110997065 - 139569182 139593208 - 140449361 140473387 - 737633;6480464 12477932 15489334;15164053;14702039;19965467;20379614;17207965;21890473;21906983;21963094;23486472 92715 Q9BTV6 ABBA01022777;AJ420445;AK075115;AK307180;AK308998;AK310226;AK310987;AL365502;AMYH01021911;BC003123;BC016349;BC017335;BC040173;CH471090;CQ783158;NM_138778 AAH03123;AAH17335;AAH40173;ADQ32716;BAC11411;CAF86364;EAW88400;EAW88401;NP_620133;Q9BTV6 Hs.292570 1664050;1664052;1848436;2115303 A005T03;G20473;WI-14048;WI-22541 C9orf112;FLJ90634;RP11-48C7.3;RRT2 OTTHUMP00000022705;WD repeat-containing protein 85;chromosome 9 open reading frame 112 APPROVED protein-coding ENSG00000148399 25199 12934 613210 PROVISIONAL 1346924 DPH3 diphthamide biosynthesis 3 This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009] 3 3 3 p25.1 16237487 16245416 - 16276969 16281490 - 16298568 16306496 - 1580863;6480464 14980502;18214955;16344560;15489334;15485916;14702039;14527407;12477932;18029348;16648478;21988832 285381 Q96FX2 ABBA01025131;AC090953;AK022970;AK023203;AK092040;AK311618;AMYH01013002;BC010181;BC073931;BC094863;CH471055;DA447430;DA875039;NM_001047434;NM_206831 AAH10181;ADZ15684;EAW64268;EAW64269;NP_001040899;NP_996662;Q96FX2 Hs.388087 1694458;1698052;1735342;2132764;2177856;2185587 A008J21;D3S2963E;G42949;RH102557;SHGC-30634;SHGC-76745 DELGIP;DELGIP1;DESR1;DPH3A;KTI11;MGC20197;ZCSL2 CSL-type zinc finger-containing protein 2;DPH3 homolog;DPH3 homolog (KTI11, S. cerevisiae);DPH3, KTI11 homolog;DPH3A, KTI11 homolog A;Del-GEF interacting protein;OTTHUMP00000160305;OTTHUMP00000211113;deafness locus putative guanine nucleotide exchange factor interacting protein 1;delGEF-interacting protein 1;diphtheria toxin and Pseudomonas exotoxin A sensitivity required gene 1;zinc finger, CSL domain containing 2;zinc finger, CSL-type containing 2 APPROVED protein-coding 27717 16412 608959 REVIEWED 736541 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008] 9 9 9 q34.13 101348597 101351986 - 129737203 129739956 - 130697374 130700763 - 6480464;6907045 10835346;11102867;16280320;12477932;11591653;10944123;9724629;8617505;21103663;23109149;20301507 8818 O94777;Q5T9C7 AB013361;AB451329;AB451473;ABBA01043855;AF061729;AI954002;AK312121;AL157935;AMYH01021737;BC015233;BC015374;BC048256;BC107863;CR542134;NG_032927;NM_003863 AAG43140;AAH15233;AAH15374;AAI07864;BAA33974;BAG35057;BAG70143;BAG70287;CAG46931;NP_003854;O94777 Hs.108973 1768819;2122121 RH36182;STS-W80399 CDG1U;FLJ80013;MGC111193;MGC21559 DPM synthase complex subunit;OTTHUMP00000022224;OTTHUMP00000022226;dolichol phosphate-mannose biosynthesis regulatory protein;dolichol phosphate-mannose synthase 2;dolichol-phosphate mannosyltransferase 2 APPROVED protein-coding ENSG00000136908 3006 16028 603564;615042 REVIEWED 1349412 DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008] 1 1 1 q22 128183959 128184588 - 153378991 153379620 - 155112367 155112996 - 1580863;6480464;6907045;7240710 10835346;16280320;16710414;12477932;11420690;11226175;22001757;20301507 54344 Q86TM7;Q9P2X0 AB028128;ABBA01016716;AF312922;AF312923;AK293625;AL691442;AMYH01001426;BC032223;BC065233;BC104202;BC104203;BC104481;CH471121;CS488898;NG_012871;NM_018973;NM_153741 AAH32223;AAH65233;AAI04203;AAI04204;AAI04482;AAK28486;AAK28487;BAA96291;BAG57082;CAM55972;EAW53125;EAW53126;NP_061846;NP_714963;Q9P2X0 Hs.110477 1645472;2220670 A008V48;UniSTS:489903 CDG1O;MGC125904;MGC125905;MGC34275 DPM synthase complex subunit 3;MPD synthase subunit 3;OTTHUMP00000033283;OTTHUMP00000033284;OTTHUMP00000033285;dolichol-phosphate mannose synthase subunit 3;dolichol-phosphate mannosyltransferase subunit 3;dolichyl-phosphate beta-D-mannosyltransferase subunit 3;mannose-P-dolichol synthase subunit 3;prostin 1;prostin-1 APPROVED protein-coding ENSG00000179085 3007 16179 605951;612937 REVIEWED 1602122 DPH5 diphthamide biosynthesis 5 This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p21.2 99716901 99753082 - 101227767 101263950 - 101455179 101491362 - 6480464 16344560;15489334;15485916;12477932;11042152;10931946;10810093;10737800;8889548;8125298;21139048;21906983;21963094;23459443;23486472;22053931 51611 B3KWP1;Q96DC6;Q9H2P9 ABBA01045430;ABBA01045431;ABBA01045432;ABBA01045433;ABBA01045434;AC093157;AF132964;AF157319;AF161492;AF248965;AK125485;AK225469;AK225707;AK225951;AK289351;AK298181;AMYH01000826;AMYH01000827;BC009620;BC034669;BC053857;BI907367;BM808505;CH471097;CK002046;DA133565;NM_001077394;NM_001077395;NM_015958 AAD27739;AAF29107;AAF67485;AAG44563;AAH09620;AAH53857;BAF82040;BAG54203;BAG60452;EAW72932;EAW72933;EAW72934;EAW72935;EAW72936;EAW72937;EAW72938;EAW72939;EAW72940;EAW72941;NP_001070862;NP_001070863;NP_057042;Q9H2P9 Hs.440776 1644024;2160132 RH68640;SHGC-34933 AD-018;CGI-30;HSPC143;MGC61450;NPD015 DPH5 homolog;OTTHUMP00000012522;OTTHUMP00000012523;OTTHUMP00000012524;diphthamide biosynthesis methyltransferase;diphthine synthase;protein x 0011 APPROVED protein-coding 24270 13037 611075 REVIEWED 1603188 DPH6 diphthamine biosynthesis 6 15 15 15 q14 12422457 12597717 - 33450375 33625656 - 35663170 35838404 - 6480464 16344560;15489334;14702039;12477932;19913121;20628086;20379614;20732626;23169644;21890473;21906983;21963094;23468660;22505724 89978 H0YND7;H0YNH5;Q7L8W6 ABBA01038502;ABBA01038503;ABBA01038504;ABBA01038505;AC015994;AC019288;AK094007;AK125017;AL833427;AMYH01006542;BC008485;BC066652;BX537862;CH471125;DB250468;NM_001141972;NM_080650 AAH08485;AAH66652;BAC04266;BAG54123;EAW92327;NP_001135444;NP_542381;Q7L8W6 Hs.107196 1662045;1704586;1705976;1719483;1771731;2109505;5037552 D8S2279;MGC14798__7670;RH123461;RH17459;SHGC-34254;SHGC-79698;SHGC-83102 ATPBD4;MGC14798 ATP binding domain 4;ATP-binding domain-containing protein 4;DPH6 homolog;OTTHUMP00000160179;diphthamide synthase;diphthamide synthetase;diphthine--ammonia ligase;protein DPH6 homolog APPROVED protein-coding ENSG00000134146 30543 14443 VALIDATED 1320840 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [provided by RefSeq, Jul 2008] 20 20 q13.13 48984812 49008467 - 49551405 49575060 - 1580863;6480464;6907045;7240710 9535917;10835346;16280320;9724629;17081983;15669674;15489334;12477932;11780052;10642602;10642597;9223280;16169070;17353931;17207965;17215244;17314511;21963094;23000965;21987572;21139048;21890473;21906983 8813 E9PHH5;H0Y368;O60762;Q5QPJ9;Q5QPK2 ABBA01052791;ABBA01052792;AF007875;AK289569;AL034553;AMYH01011978;BC007073;BC008427;BC008466;BC016322;CH471077;CR456926;D86198;D86202;NG_008923;NM_003859 AAC98797;AAH07073;AAH08466;AAH16322;ADQ31633;BAA25646;BAA25647;BAF82258;CAG33207;EAW75607;EAW75608;EAW75609;NP_003850;O60762 Hs.654951 1335922;1341293;1722677;2116148;2142182;2142184;2148426;2219938;7186736 A001U10;D20S196;D20S869;G19654;G60423;MOCS3__6331;RH45780;SHGC-32757 CDGIE;MPDS DPM synthase;DPM synthase complex, catalytic subunit;MPD synthase;OTTHUMP00000031285;OTTHUMP00000031286;OTTHUMP00000031287;OTTHUMP00000031288;dolichol monophosphate mannose synthase;dolichol-phosphate mannose synthase;dolichol-phosphate mannosyltransferase;dolichyl-phosphate beta-D-mannosyltransferase;mannose-P-dolichol synthase APPROVED protein-coding ENSG00000000419 3005 04613 603503;608799 REVIEWED 1346119 DPPA1 developmental pluripotency associated 1 359784 AF490345 18134 1315036 DPP10 dipeptidyl-peptidase 10 (non-functional) This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q14.1 114916369 116318406 + 115199899 116602326 + 1331525;1580863;4889866;4892275;4892278;4892274;4892276;6480464 15118671;21103062;19672052;17967935;14566338 19247692;12662155;19676137;19308021;19264973;19258923;19237393;17703412;17702965;17475505;16899223;16290253;15911355;15829243;15671030;15489334;15454437;14702039;12675227;12477932;10819331;19913121;20628086;20816195;20354865;19736351;19910028;19910030;19951440;19996348;20085599;20200978;20379614;20414141;20451256;20503287;20701904;22298003;21254220;22387313;23251661 57628 B2RCJ8;B4DKB5;C9J4M8;F8WEB2;J3KPP1;J3KQK8;Q0GLB7;Q0GLB9;Q53SS4 AB040925;ABBA01045962;ABBA01045963;ABBA01045964;ABBA01045965;ABBA01045966;ABBA01045967;ABBA01045968;ABBA01045969;ABBA01045970;ABBA01045971;ABBA01045972;AC010885;AC012071;AC016721;AC017040;AC066593;AC067947;AC068542;AC093610;AC105422;AC116620;AC118276;AC118664;AK025075;AK055256;AK289967;AK296490;AK315147;AMYH01010974;AMYH01010975;AMYH01010976;AMYH01010977;AW771124;AY172661;AY387785;BC030832;BC038514;BI597037;CH471103;DQ857321;DQ857322;DQ857323;N47251;NM_001004360;NM_001178034;NM_001178036;NM_001178037;NM_020868 AAH30832;AAO17263;AAQ91190;AAY14685;AAY14930;AAY15025;AAY15032;AAY24120;ABI16085;ABI16086;ABI16087;ABM83319;ABM86534;BAA96016;BAF82656;BAG37595;BAG59127;EAW95186;EAW95187;EAW95188;NP_001004360;NP_001171505;NP_001171507;NP_001171508;NP_065919;Q8N608 Hs.580539 1298137;1337072;1341698;1677450;1684068;1686558;1690488;1705304;1708952;1710600;1715095;1717385;1719315;1720089;1723529;1724481;1725233;1726979;1727097;1732681;1751089;1751569;1754231;1761091;1784304;1854851;2151751;2162138;2163331;2173558;5092850;7183244 A009A48;BCD1353;CHLC.GATA28E11;D2S1265;D2S1860;D2S308;D2S410;G32370;G62736;G62951;RH118582;RH118909;RH119499;RH122183;RH122499;RH123380;RH123786;RH25445;RH45893;RH69642;RH92312;RH92842;SGC38169;SHGC-105027;SHGC-105514;SHGC-132255;SHGC-145072;SHGC-78609;SHGC-79408;SHGC-79533;SHGC-83986 DPL2;DPPY;DPRP3 DPP X;DPRP-3;OTTHUMP00000203618;OTTHUMP00000203676;OTTHUMP00000203678;OTTHUMP00000203679;dipeptidyl peptidase 10;dipeptidyl peptidase IV-related protein 3;dipeptidyl peptidase X;dipeptidyl peptidase like protein 2;dipeptidyl peptidase-like protein 2;dipeptidylpeptidase 10;inactive dipeptidyl peptidase 10 APPROVED protein-coding ENSG00000175497 20823 07083 608209 VALIDATED 68590 DPP6 dipeptidyl-peptidase 6 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 q36.2 154060464 154316928 + 154400205 154685995 + 68240;1580863;5687182;5687181;5687186;6480464;5687188;7240710 1729689;19332697;20137488;19285295;18708572 16123112;15911355;20573902;8103397;19676137;19525032;19193627;18987618;18519826;18364354;18084291;18057069;16764835;16344560;15890703;15671030;15476821;12853948;12575952;12477932;11173531;9847074;8889548;7566098;15146195;20001489;20379614;19913121;20628086;20685689;20686608;19901547;23534349;22479372;21826085;15454437;23225603;23532596;23069673 1804 E9PDL2;E9PF59;P42658;Q8IYG9 AACC02000115;AACC02000116;ABBA01009477;ABBA01015993;ABBA01015994;ABBA01015995;ABBA01015996;ABBA01015997;ABBA01051061;ABBA01051062;ABBA01051063;AC005588;AC006019;AC007129;AC024239;AC024730;AC073336;AC099341;AC104594;AI458476;AK126619;AK131502;AK293582;AK294483;AK308993;AK309760;AMYH01018168;AMYH01018169;AMYH01018170;AMYH01018171;AMYH01018172;AMYH01018173;AMYH01018174;AMYH01018175;AMYH01018176;AMYH01018177;AMYH01018178;BC035912;BC150304;BE549875;BM931444;BU151391;BU788059;BX647966;CH236962;CH471149;DA071922;DA911296;M96859;M96860;NM_001039350;NM_001936;NM_130797;R86717;T28117 AAA35760;AAA35761;AAH35912;AAI50305;AAS07493;AAS07504;AAS07508;AAS07518;BAH11539;BAH11785;EAX04521;EAX04522;NP_001034439;NP_001927;NP_570629;P42658 Hs.490684;Hs.669076;Hs.703229 1337742;1337945;1338707;1340786;1341826;1645689;1649258;1650496;1654005;1654870;1657907;1660684;1668600;1670892;1682163;1688231;1696734;1703906;1725047;1735684;1749979;1752117;1758871;1758953;1760401;1762173;1762595;1763471;1764691;1766283;1767063;1768007;1768642;1786224;1786226;1786230;1854190;1856568;1857288;2118830;2122336;2131675;2138497;2139226;2141711;2142763;2143458;2144493;2161124;2163694;2165351;2165918;2169668;2170689;2170750;2171263;2171697;2179342;2179907;2180733;2181466;2184424;2185166;7183256;7185053;7185484;7185577;7188891;7188895 A006E05;A006U34;D20S170;D4S3205;D7S1521;D7S1544;D7S1807;D7S1823;D7S1920;D7S1953;D7S2106E;D7S2141E;D7S2303;D7S2447;D7S2546;D7S2689;D7S2802;D7S2812;D7S637;D7S755;D7S774;DXYS116Y;FB16B4;G09452;G15940;G15992;G17192;G31776;GDB:1317534;GDB:1317556;GDB:1318120;GDB:1318366;GDB:1318372;GDB:4584977;GDB:4585231;GDB:4585477;GDB:4585573;GDB:4585663;NIB1085;RH11433;RH118819;RH12730;RH26271;RH35843;RH48507;RH92198;SHGC-106057;SHGC-111675;SHGC-111688;SHGC-112024;SHGC-112091;SHGC-142328;SHGC-146060;SHGC-146393;SHGC-147175;SHGC-148281;SHGC-149634;SHGC-151014;SHGC-151035;SHGC-30940;SHGC-77889;SHGC-83608;WI-7260 DPPX;FLJ55680;MGC46605;VF2 DPP VI;OTTHUMP00000200130;OTTHUMP00000200132;OTTHUMP00000211904;OTTHUMP00000211905;dipeptidyl aminopeptidase IV-related protein;dipeptidyl aminopeptidase-like protein 6;dipeptidyl aminopeptidase-related protein;dipeptidyl peptidase 6;dipeptidyl peptidase IV-like protein;dipeptidyl peptidase IV-related protein;dipeptidyl peptidase VI;dipeptidylpeptidase 6;dipeptidylpeptidase VI APPROVED protein-coding ENSG00000130226 3010 00525 126141;612956 REVIEWED 7175920 DPPA2P2 developmental pluripotency associated 2 pseudogene 2 1 p36.11 26845608 26846755 - 100128503 ABBA01034911;AL627313;AMYH01000402;NG_012273 pseudo 44627 INFERRED 2974663 DPPA2P1 developmental pluripotency associated 2 pseudogene 1 Y Y 2325476 2326040 + 15342765 15343329 + 100421137 ABBA01065555;AC005820;NG_021938 pseudo 38448 INFERRED 7175915 DPPA2P3 developmental pluripotency associated 2 pseudogene 3 3 q29 193710882 193712027 - 10737800 100128023 ABBA01058282;AC024559;AMYH01013773;BI014197;BI014198;NR_027764 Hs.730112 1335409;1746983 D3S3562;G64903 pseudo 44628 VALIDATED 737491 DPP4 dipeptidyl-peptidase 4 The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. [provided by RefSeq, Jul 2008] 2 2 q24.3 162557001 162639298 - 162848755 162931052 - 1580863;2313699;2313700;2313702;6480464 19765579;19705345;19073764 12646248;1352530;9330696;14684150;7594462;11772392;16670267;15052268;19358731;19327104;19153055;19061927;19024603;18983807;18940185;18820218;18708048;18682883;18606664;18595667;18563594;18538760;18520029;18496701;18189200;18007554;17949241;17944883;17904681;17846797;17786309;17610364;17549790;17525828;17492130;17287217;17270095;17244786;17071493;16829852;16781669;16778789;16704418;16700525;16700520;16700508;16621928;16611738;16335952;15985311;15911629;15866709;15864535;15819895;15797249;15695814;15681827;15540901;15490304;15489334;15448155;15375776;15353589;15323360;15292258;15215186;15213224;15175333;15146553;15027119;15016824;15002062;14718659;14691230;14684825;14630704;14525771;12906826;12832764;12820316;12790770;12767062;12752434;12727530;12690074;12675254;12675253;12675248;12675247;12675246;12675245;12675243;12675238;12675233;12675232;12675231;12675229;12675220;12675218;12634639;12595736;12579300;12529175;12483204;12477932;12471135;12437097;12239451;12213886;12176563;12175726;12112826;12095981;12047913;12031601;12023964;11901152;11882590;11773049;11739489;11739156;11696365;11549856;11390394;11278278;10961862;10880264;9933589;9710254;9685737;9671214;9645485;9537773;9516414;9374514;9330689;9252108;8925885;8852605;8763423;8635502;8101391;8096237;8095514;8094732;7927537;7912830;7911242;7833626;7539755;7522442;7487939;1977364;1975616;1680916;1677636;1362202;1352704;22406180;1347043;7585218;11831694;7903479;9330699;8806567;10899322;9103436;9263011;9185130;20459800;19469710;20495958;20185737;21284881;20805868;10900005;16651416;19247978;19459926;19632987;19654580;19687096;19734982;19762327;19811413;19817894;19917055;20008019;20043068;20075514;20155839;20468064;19913121;20361950;20520837;20628086;20628624;20569697;20841351;20828536;20942971;20534982;20584285;21108831;21198750;20198559;20572019;20847730;22388283;22908963;23160239;23035207;20878214;21334743;21593202;22179204;22369943;23184393;22949266;22846168;21526345;17091451;21614532;22153807;21672052;21917073;22185679;21281985;21894438;22001206;22648548;22674411;23219738;21656024;21558160;21785903;22167343;22504421;22261805;21674250;22539793;23122333;23544270;22561447;22806538;21988832;22982114;23486063;23197976;23327927;20455069;23654079;22086610;23113658;21856036;21951552;22382050 1803 F8WBB6;F8WE17;H7C1N5;P27487 AB451339;AB451488;ABBA01004890;ABBA01004891;AC008063;AK314798;AMYH01011214;AY429531;AY429532;AY429533;BC013329;BC065265;CH471058;CQ772397;HI179156;M74777;M80536;NM_001935;S79876;U13710;U13711;U13712;U13713;U13714;U13715;U13716;U13717;U13718;U13719;U13720;U13721;U13722;U13723;U13724;U13725;U13726;U13727;U13728;U13729;U13730;U13731;U13732;U13733;U13734;U13735;X60708 AAA51943;AAA52308;AAB35614;AAB60646;AAH13329;AAH65265;AAX93179;BAG70153;BAG70302;CAA43118;CAF33874;CBX53886;EAX11361;EAX11362;NP_001926;P27487 Hs.368912 1644714;1671036;1769736;1778422;1795698;5094998;5117294;5120205 DPP4;DPP4_22;GDB:207675;GDB:456160;RH17451;RH47162;SHGC-118;SHGC-12694 ADABP;ADCP2;CD26;DPPIV;TP103 ADCP-2;DPP IV;OTTHUMP00000162936;T-cell activation antigen CD26;adenosine deaminase complexing protein 2;dipeptidyl peptidase 4;dipeptidyl peptidase IV;dipeptidyl-peptidase 4 (CD26, adenosine deaminase complexing protein 2);dipeptidylpeptidase 4;dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2) APPROVED protein-coding ENSG00000197635 3009 02187 102720 REVIEWED 7175176 DPPA2P4 developmental pluripotency associated 2 pseudogene 4 16 q13 56720749 56722210 + 100131777 ABBA01025250;AC026461;AC106779;AMYH01007690;NG_012309 pseudo 44629 INFERRED 5013924 DPPA3P1 developmental pluripotency associated 3 pseudogene 1 X X X q22.2 103651655 103652696 - 103102546 103103781 - 103215895 103216942 - 728493 ABBA01032849;AC234782;AMYH01022799;NG_007153;Z70227 pseudo 32345 INFERRED 733882 DPP7 dipeptidyl-peptidase 7 The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008] 9 9 q34.3 139124813 139129016 - 140004992 140009195 - 70613;1580863;6480464 11139392 15231747;10567372;18823758;15489334;12529175;12477932;12005022;11173530;11067927;10477574;8096464;2727382;2207678;1515698;19556882;20534982;22863883;22939629;21987572;21890473;21906983;22952628 29952 Q9UHL4;R4GMR2;R4GMU5;R4GMV4;R4GN05;R4GN23;R4GNE8 AB209787;ABBA01022742;AF154502;AK292112;AK293700;AK298288;AL533195;AL929554;AMYH01021889;BC011907;BC016961;BF342300;BX400716;CH471090;NM_013379 AAF12747;AAH11907;AAH16961;ABM82386;ABM85563;BAD93024;BAF84801;BAG57135;BAG60548;EAW88349;NP_037511;Q9UHL4 Hs.37916 1699204 RH103183 DPP2;DPPII;QPP DPP II;OTTHUMP00000022680;carboxytripeptidase;dipeptidyl aminopeptidase II;dipeptidyl arylamidase II;dipeptidyl peptidase 2;dipeptidyl peptidase II;dipeptidyl-peptidase II;dipeptidylpeptidase 7;quiescent cell proline dipeptidase APPROVED protein-coding ENSG00000176978 14892 07634 610537 REVIEWED 736150 DPP3 dipeptidyl-peptidase 3 This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012] 11 11 q12-q13.1 66004456 66033706 + 66247484 66277130 + 1580863;6480464 22493238;10387075;18163885;16097034;15489334;14759258;14702039;14687922;14529681;12477932;11209758;11181995;10873616;10773679;9711218;9640230;9425109;8125298;7044004;7041700;6368131;3791505;3348886;3233187;2906822;2858361;2044841;618680;16169070;20236318;22863883;22990118;21832049;22939629;18029348;21139048;21693764;21906983;21926972;21044950;23382044;21963094;22505724;23667907 10072 E9PKK8;E9PNX5;E9PPK9;E9PQ14;E9PQF2;G3V180;G3V1D3;Q5JPB8;Q9NY33 AB017970;ABBA01024074;ABBA01024075;ABBA01024076;AJ271216;AK021449;AK025984;AK222566;AK222847;AK297199;AK304581;AK315478;AL137670;AL833475;AMYH01003735;AP002748;BC001446;BC007221;BC014038;BC024271;CD366941;CH471076;DC325853;DC403406;DC407885;NG_032068;NM_001256670;NM_005700;NM_130443 AAH01446;AAH07221;AAH14038;AAH24271;ABM83111;ABM86305;BAA75785;BAB13828;BAD96286;BAD96567;BAG37862;BAG59686;BAG65369;CAB72433;CAI46122;EAW74538;EAW74539;EAW74540;EAW74541;EAW74543;EAW74544;NP_001243599;NP_005691;NP_569710;Q9NY33 Hs.502914;Hs.740670 1855352;2119788;2140960;5095736;5121065;5124046 D4S3182;G60290;RH47804;RH47870;SHGC-59694;SHGC-8631 DPPIII;FLJ11387;FLJ22331 DPP III;OTTHUMP00000235327;OTTHUMP00000235328;OTTHUMP00000235329;OTTHUMP00000235332;dipeptidyl aminopeptidase III;dipeptidyl arylamidase III;dipeptidyl peptidase 3;dipeptidyl peptidase III;dipeptidylpeptidase 3 APPROVED protein-coding ENSG00000254986 3008 06012 606818 REVIEWED 7204624 DPPA4P1 developmental pluripotency associated 4 pseudogene 1 3 66376673 66377207 + 100421156 ABBA01030864;AC092034;AMYH01013255;NG_025704 pseudo 44903 INFERRED 1352490 DPPA3 developmental pluripotency associated 3 This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008] 12 12 12 p13.31 9442212 9448285 + 7755356 7761422 + 7864089 7870155 + 6480464 17143267;16291741;15489334;15018652;14990856;14684992;14654002;11900980 359787 Q6W0C5 ABBA01012208;AC006517;AMYH01004216;AMYH01004217;AY317075;CH471116;NM_199286 AAI60067;AAQ84110;EAW88657;EAW88658;NP_954980;Q6W0C5 Hs.131358 1782610 SHGC-143913 STELLA OTTHUMP00000238776;developmental pluripotency-associated protein 3;stella-related protein APPROVED protein-coding ENSG00000187569 19199 16331 608408 REVIEWED 5688626 DPPA5P1 developmental pluripotency associated 5 pseudogene 1 19 q13.41 52929002 52929474 - 17913455 646382 ABBA01068255;AC010332;AMYH01009954;NG_028001 pseudo 43752 INFERRED 6769800 DPPA5P2 developmental pluripotency associated 5 pseudogene 2 15 45858972 45859241 + 17913455 100874380 ABBA01039176;AC090527;AMYH01006620;NG_032564 pseudo 43754 INFERRED 7176781 DPPA5P3 developmental pluripotency associated 5 pseudogene 3 10 p15 6371096 6371439 - 100528006 ABBA01034765;AL137145;AMYH01002004;NG_028003 pseudo 44688 INFERRED 1604883 DPRX divergent-paired related homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 51176624 51181576 + 58827122 58832075 + 54135310 54140263 + 6480464 17005330 503834 A6NFQ7 ABBA01068204;AC011487;AMYH01009962;NM_001012728 A6NFQ7;NP_001012746 Hs.579941 OTTHUMP00000244156;divergent paired-related homeobox APPROVED protein-coding ENSG00000204595 32166 10561 611165 VALIDATED 1322072 DPP8 dipeptidyl-peptidase 8 This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 q22 63525051 63597088 - 65737998 65810035 - 6480464 15866709;15664838;15489334;15039077;14729942;14702039;12662155;12534281;12477932;11012666;18029348;18275857;17040910;16704418;16700509;16344560;20534982;19581630;20043068;22736146;22863883;21963094;23519473;21711053;21890473;21906983;19322201 54878 C9JSG1;H0YK36;H0YKA2;H0YMV1;H0YN53;H3BNM2;H3BQ40;J3KPT0;Q9HBM3 ABBA01038849;ABBA01038850;ABBA01038851;ABBA01038852;ABBA01038853;AC011846;AC105129;AF176779;AF221634;AF221635;AF221636;AF221637;AK000290;AK027826;AK291057;AK296915;AK302638;AMYH01006718;AY172659;AY354202;BC030688;BC040203;BI458620;BI462092;CH471082;DA297112;NM_017743;NM_130434;NM_197960;NM_197961 AAG29766;AAG29767;AAG29768;AAG29769;AAH30688;AAO17261;AAQ13657;AAQ63887;ABM82659;ABM85836;BAA91059;BAB55395;BAF83746;BAG59470;BAG63880;EAW77726;EAW77727;EAW77728;EAW77729;EAW77730;EAW77731;EAW77732;EAW77733;EAW77734;NP_060213;NP_569118;NP_932064;NP_932065;Q6V1X1 Hs.591106 1678595;1767990;2109247 DPP8_9839;RH48404;RH92998 DP8;DPRP1;FLJ14920;FLJ20283;MGC26191;MSTP141 DPP VIII;DPRP-1;OTTHUMP00000164197;OTTHUMP00000164198;OTTHUMP00000164199;OTTHUMP00000164200;dipeptidyl peptidase 8;dipeptidyl peptidase IV-related protein 1;dipeptidyl peptidase IV-related protein-1;dipeptidyl peptidase VIII;dipeptidylpeptidase 8;prolyl dipeptidase DPP8 APPROVED protein-coding 16490 07076 606819 REVIEWED 1605458 DPRXP2 divergent-paired related homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 6 6 6 p21.31 37511829 37512827 - 36065145 36066347 - 35957267 35958269 - 503643 ABBA01038247;AL133507;AMYH01016269;NG_004848 APPROVED pseudo 32168 INFERRED 1605459 DPRXP1 divergent-paired related homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 2 2 2 q32.1 180949084 180949699 - 187061428 187062241 - 187353283 187353896 - 503641 ABBA01062338;AC018867;AMYH01011336;NG_004847 APPROVED pseudo 32167 INFERRED 1605457 DPRXP3 divergent-paired related homeobox pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 14 14 14 q13.2 15555158 15555796 + 34760984 34761822 + 35691333 35691971 + 503644 ABBA01061499;AL121594;AMYH01005666;NG_004849 APPROVED pseudo 32169 INFERRED 1605456 DPRXP5 divergent-paired related homeobox pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 21 21 21 q22.13 23513841 23514935 + 37237330 37238424 + 38315460 38316554 + 503646 ABBA01057405;AMYH01012229;AP000703;AP000704;AP001727;NG_004850;NG_016193 APPROVED pseudo 32171 INFERRED 6482899 DPPA3P2 developmental pluripotency associated 3 pseudogene 2 14 q13.3 36840541 36841574 + 12477932;14990856 400206 ABBA01061523;AL137226;AMYH01005673;AY230136;BC062480;BC125145;NG_023379 AAH62480;AAI25146;AAO39708 Hs.528118 STELLAR pseudo 20417 VALIDATED 1605455 DPRXP6 divergent-paired related homeobox pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] X X X p11.4 44757211 44757869 + 40502527 40503385 + 40617684 40618342 + 503647 ABBA01046780;AC092474;AMYH01022224;NG_004851 APPROVED pseudo 32172 INFERRED 1602608 DPRXP4 divergent-paired related homeobox pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 26223276 26223945 + 26326479 26327148 + 29302353 29303022 + 19291764 503645 ABBA01014977;AC138207;AMYH01008318;BQ448328;NG_011701;NR_002221 Hs.683578 APPROVED pseudo 32170 VALIDATED 1605454 DPRXP7 divergent-paired related homeobox pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008] X X X q23 112047727 112048380 - 111449652 111450505 - 111563096 111563749 - 503648 ABBA01043191;AL031176;AMYH01022844;NG_004852 APPROVED pseudo 32173 INFERRED 1602199 DPY19L1P1 dpy-19-like 1 pseudogene 1 (C. elegans) 7 7 7 p14.3 32645296 32748581 - 32625761 32696702 - 32620551 32758780 - 100129460 ABBA01056843;ABBA01056844;ABBA01056845;ABBA01056846;ABBA01056847;ABBA01056848;ABBA01056849;AC018633;AC018645;AK026768;AMYH01017157;AMYH01017158;AMYH01017159;NR_036680 Hs.633705 1652026;1679427;1705578;1709848;1776992;1851476;1854518;2117934;2135626;2180588;5016781 G17185;G17189;GDB:1317348;GDB:1317456;GDB:3750003;RH92272;SHGC-67307;SHGC-83897;SHGC-84747;Tal1732;WI-15557 FLJ23115 pseudo 22395 VALIDATED 1350502 DPP9 dipeptidyl-peptidase 9 This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008] 19 19 p13.3 4626236 4674875 - 4675243 4723855 - 6480464 19268648;18940951;16704418;16700509;16475979;16344560;15866709;15489334;15245913;14702039;12662155;12534281;12477932;12459266;23152501;19581630;19667070;20043068;20534982;22863883;22736146;21963094;23519473;18029348;21622624;19850743;21711053;21906983;22001206;22505724 91039 M0QXA6;M0QXG6;M0QXI5;M0QXN4;M0QZ97;M0R0I1;M0R145;M0R162;M0R1L4;M0R2A8;M0R2G6;M0R334;M0R3C4;M0R3E8;Q8N2J7 ABBA01056049;ABBA01056050;AC005594;AC005783;AF452102;AF542510;AK054656;AK075030;AK122645;AK122654;AK131100;AK131499;AL834376;AMYH01009342;AMYH01009343;AMYH01009344;AY172660;AY374518;BC000970;BC017008;BC037948;BF203783;CB960096;CH471139;CR627380;DB105598;DQ417928;HI574198;NM_139159 AAC33801;AAC62840;AAH00970;AAH37948;AAL47179;AAO17262;AAO73880;AAQ83119;ABD83624;ABM83251;ABM86453;BAB70784;BAC11362;BAC85150;BAD18643;BAG53644;CAD39039;CAH10477;CBX47588;EAW69199;EAW69200;EAW69201;NP_631898;Q86TI2 Hs.515081 1685425;1690790;1697416;5015619;5037552 D11S3114;D8S2279;RH102208;RH79756;RH80602 DKFZp762F117;DP9;DPLP9;DPRP-2;DPRP2;FLJ16073 DP9;DPLP9;DPP IX;DPRP-2;dipeptidyl peptidase 9;dipeptidyl peptidase IV-related protein 2;dipeptidyl peptidase IV-related protein-2;dipeptidyl peptidase IX;dipeptidyl peptidase-like protein 9;dipeptidylpeptidase 9 APPROVED protein-coding ENSG00000142002 18648 07001 608258 REVIEWED 1344123 DPPA5 developmental pluripotency associated 5 This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010] 6 6 q13 74119508 74120674 - 74062785 74063999 - 6480464 17913455;15790765;12477932;16081659;16166252;16479162;17967063;19129511;19221495;20146561 340168 A6NC42 AA872428;ABBA01040314;AC019205;AI365263;AMYH01016425;BC137549;BC137558;BX092581;CH471051;NM_001025290 A6NC42;AAI37550;AAI37559;EAW48774;EAW48775;NP_001020461 Hs.125331 1697746;1809106;1809650;1811836;1923326;1923328;1923330;1923332;1923334;1923336;1923338;1923340;1923342;1923344;1923346;1923348;1923350;1923352;2207210;2207212 ECD05541;ECD05817;ECD06922;REN32487;REN32488;REN32489;REN32490;REN32491;REN32492;REN32493;REN32494;REN32495;REN32496;REN32497;REN32498;REN32499;REN32500;RH102396;stSG625833;stSG625834 Esg1 OTTHUMP00000016732;developmental pluripotency-associated 5 protein;embryonal stem cell specific gene 1 APPROVED protein-coding ENSG00000203909 19201 18786 611111 REVIEWED 1348790 DPPA2 developmental pluripotency associated 2 3 3 3 q13.13 107411395 107434045 - 110495331 110518054 - 109012635 109035364 - 6480464 18519755;18467432;16189514;15583978;15489334;12477932;19705800;20379614;21896782;18029348;22379092 151871 Q7Z7J5 AA460929;ABBA01061692;ABBA01061693;ABBA01061694;AC076971;AMYH01013385;AY283672;BC018070;CH471052;NM_138815 AAH18070;AAP37285;EAW79709;EAW79710;NP_620170;Q7Z7J5 Hs.351113 1683116 RH98343 CT100;ECAT15-2;PESCRG1 OTTHUMP00000214409;cancer/testis antigen 100;developmental pluripotency-associated protein 2;embryonic stem cell (ESC) associated transcript 15-2;pluripotent embryonic stem cell-related gene 1 protein protein-coding ENSG00000163530 19197 13248 614445 VALIDATED 1602789 DPY19L2P1 dpy-19-like 2 pseudogene 1 (C. elegans) 7 7 7 p14.2 35114182 35132073 - 35095981 35113871 - 35120899 35225774 - 12477932;21832049 554236 Q6NXN4 ABBA01056887;AC004800;AC005400;AC005826;AC006379;AK304236;AMYH01017177;AMYH01017178;BC013598;BC066987;BX647611;BX648666;NR_002833 BAG65105;Q6NXN4 Hs.594815 pseudo 22305 PROVISIONAL 1343152 DPPA4 developmental pluripotency associated 4 3 3 3 q13.13 107443668 107455094 - 110527678 110539109 - 109044988 109056419 - 6480464 16169070;18366076;16189514;15489334;14702039;12620990;12477932;8889549;19913121;20628086;21348951;21900206 55211 C9J7A7;F8WDC6;Q7L190 AA223751;AA224162;ABBA01061692;AC076971;AK001575;AK022698;AK022821;AK290992;AK298623;AK299290;AMYH01013385;BC032846;CH471052;NM_018189 AAH32846;ABM82151;ABM85336;BAA91765;BAB14188;BAF83681;BAH12831;BAH12993;EAW79708;NP_060659;Q7L190 Hs.317659 1679559;5014051;5015404;5016478;5020740;5021228;5022200;5022425;5022651;5024413;5024756;5037552 D11S2921;D22S296;D8S2278;D8S2279;GDB:312794;GDB:434012;L17705;L17809;L17877;L18426;RH80030;RH80393 2410091M23Rik;FLJ10713 OTTHUMP00000214383;developmental pluripotency-associated protein 4 protein-coding ENSG00000121570 19200 16836 614125 VALIDATED 1606928 DPY19L2 dpy-19-like 2 (C. elegans) The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011] 12 12 12 q14.2 63620809 63730544 - 62238960 62348621 - 63952693 64062354 - 16526957;14702039;12975309;12477932;21397064;22653751;23555282;22627659 283417 B4E191;F5H0W1;F5H1L7;F5H4G6;F5H5T7;H0YF77;Q6NUT2 ABBA01026623;AC027667;AK057511;AK303727;AK310102;AL833344;AMYH01004540;AMYH01004541;AY358792;BC031225;BC068442;BC125215;BC125216;CH471054;DB514316;NG_031909;NM_173812 AAH31225;AAH68442;AAI25216;AAI25217;AAQ89152;BAB71515;BAG64703;EAW97117;EAW97118;NP_776173;Q6NUT2 Hs.533644 1678623;2128460 D7S2704;RH98411 FLJ32949;FLJ36166;SPATA34;SPGF9 OTTHUMP00000239234;dpy-19-like protein 2;probable C-mannosyltransferase DPY19L2;protein dpy-19 homolog 2;spermatogenesis associated 34 APPROVED protein-coding ENSG00000177990 19414 08151 613893;613958 REVIEWED 1603693 DPY19L1 dpy-19-like 1 (C. elegans) 7 7 7 p14.3-p14.2 34950233 35064182 - 34935018 35044178 - 34968493 35077653 - 6480464 12477932;11181995;10048485;21139048;21890473;22190034 23333 H7C1I8;H7C3M5;Q2PZI1 AB020684;ABBA01056885;ABBA01056886;ABBA01056887;AC004711;AC004712;AC005271;AC005401;AC010085;AJ011911;AMYH01017174;AMYH01017175;AMYH01017176;AMYH01017177;BC029591;BC050318;BC064476;CH471073;DQ287932;NM_015283 AAH29591;ABB89208;BAA74900;EAW94038;EAW94039;NP_056098;Q2PZI1 Hs.408623 1652026;1674015;1705578;1786258;1787716;1850595;1851476;2114274;2135626;2149188;2149344;2168470;2180588;2182601;2187560;5092706 A005R13;A006U12;D7S3022;G16026;G16028;G17185;G32277;GDB:1317348;GDB:1317456;Mar1732;Rhes1732;SHGC-144361;SHGC-173013;SHGC-83897;STS-R06613;Tal1732 KIAA0877 DPY-19-like protein 1;OTTHUMP00000206875;probable C-mannosyltransferase DPY19L1;protein dpy-19 homolog 1 protein-coding ENSG00000173852 22205 613892 VALIDATED 1605477 DPY19L2P3 dpy-19-like 2 pseudogene 3 (C. elegans) 7 7 7 p15.1 29714271 29771472 + 29737986 29748827 + 29724770 29727859 + 12477932 442524 ABBA01056801;AC007276;AMYH01017142;AMYH01017143;BC036244;DQ287933;NR_036482 Hs.652669;Hs.742012 1700914;2117934 G17189;RH104084 pseudo ENSG00000227855 22367 VALIDATED 1316210 DPT dermatopontin Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008] 1 1 q12-q23 166931330 166965052 - 168664695 168698442 - 1580863;6480464 17903295;21796630;8104875;19064610;17547532;16710414;15489334;12477932;10233760;9895299;8082810;11810028;16169070;15342556;19536175;19916908;21398523 1805 Q07507 ABBA01047231;AF086330;AI699890;AL049455;AL049798;AMYH01001488;BC033736;BP257325;CH471067;NM_001937;Z22865 AAH33736;ABM82981;ABM86175;CAA80487;EAW90830;NP_001928;Q07507 Hs.80552 1670223;1680934;1699292;1773097;2126560 AL009391;RH103231;RH36563;RH92745;SHGC-75872 TRAMP OTTHUMP00000032500;dermatopontin;tyrosine-rich acidic matrix protein APPROVED protein-coding ENSG00000143196 3011 00510 125597 VALIDATED 1604946 DPY19L2P2 dpy-19-like 2 pseudogene 2 (C. elegans) 7 7 7 q22.1 97622689 97728136 - 102602956 102707988 - 102815460 102920913 - 6480464 16526957;16344560;14702039;12477932 349152 Q6ZN68 ABBA01057991;ABBA01057992;ABBA01057993;ABBA01057994;AC004668;AC007683;AK093485;AK097711;AK131353;AK302046;AL049437;AL834175;AMYH01017810;AMYH01017811;AMYH01017812;BC023575;BC033022;BC045595;BC068601;BC094802;BC150309;BX648212;CH471070;DB094748;N40211;NR_003561;NR_027768 BAC04183;BAC05147;BAD18507;BAG63438;CAD38872;EAW83317;EAW83323;EAW83324 Hs.732579 2128460;2134574;5109291;5124029 D1S1459;D7S2704;GDB:3778167;RH40732 DKFZp434E092;DKFZp586E1120;DKFZp779M0267;FLJ36166 pseudo ENSG00000170629 21764 08772 VALIDATED 6481402 DPYD-AS2 DPYD antisense RNA 2 100873933 AC114878 APPROVED miscrna 40196 6481099 DPYD-IT1 DPYD intronic transcript 1 (non-protein coding) 100874267 AC093576 miscrna 41326 6481403 DPYD-AS1 DPYD antisense RNA 1 1 97561479 97788511 + 100873932 ABBA01045475;ABBA01045476;ABBA01045477;AC091608;AC099787;AMYH01000816;AMYH01000817;AMYH01000818;BX908805;CF529923;NR_046590 Hs.682651 APPROVED miscrna ENSG00000232878 40195 VALIDATED 1625100 DPY19L2P4 dpy-19-like 2 pseudogene 4 (C. elegans) 7 7 7 q21.13 84452985 84459173 + 89586650 89592850 + 89748714 89754914 + 6480464 16526957;12477932;21832049 442523 Q8N794 AACC02000015;ABBA01045842;AC004969;AK098759;AMYH01017677;AMYH01017678;BC031277;BC047471;BX537815;CH236949;DQ287934;NR_003551 BAC05405 Hs.406964 1678623;5115120 RH98411;SHGC-33647 DKFZp686L2199;FLJ25893;MGC39769;MGC48509 pseudo ENSG00000235436 22176 PROVISIONAL 1604230 DPY19L3 dpy-19-like 3 (C. elegans) 19 19 19 q13.11 29590304 29670441 + 37588871 37667076 + 32896655 32976799 + 6480464 12477932;16344560;19488044;22190034 147991 K7ELB5;K7ELG1;K7ELH8;Q6ZPD9;Q8N6Q4 ABBA01039593;AC005382;AC005621;AC007773;AF533710;AF533711;AK024775;AK125846;AK126264;AK126757;AK129497;AL833713;AMYH01009694;BC029162;BC131725;BU625938;CR749459;DA852420;DR005952;NM_001172774;NM_207325 AAH29162;AAI31726;AAQ09023;AAQ09024;BAC85166;BAC86508;BAC86676;CAH18293;NP_001166245;NP_997208;Q6ZPD9 Hs.194392 1660392;1857000;2156801;2165653;5020635;5093612;5117897 A009S36;D19S1097;D7S3207;G32821;GDB:631813;SHGC-60190;WI-17585 DKFZp686J17135;MGC35440 dpy-19-like protein 3;probable C-mannosyltransferase DPY19L3;protein dpy-19 homolog 3 protein-coding ENSG00000178904 27120 14078 613894 VALIDATED 1606660 DPY19L4 dpy-19-like 4 (C. elegans) 8 8 8 q22.1 91917718 91991289 + 95801327 95873245 + 95732103 95806076 + 6480464 17567985;16381901;15489336;12477932;11230166;11076863;21145461;21906983;19322201;21963094 286148 E5RGB7;E5RGH1;H0YAT0;H0YBI1;H0YBK6;H0YBL6;H0YBV9;Q7Z388 ABBA01037461;ABBA01037462;ABBA01037463;ABBA01037464;ABBA01037465;ABBA01037466;AF086017;AK123618;AK123682;AL049962;AL832859;AMYH01018894;AMYH01018895;AP003692;AP005660;BC038568;BC050303;BC110870;BC126193;BC130576;BP873374;BX538048;BX538174;CH471060;NM_181787 AAI10871;AAI26194;AAI30577;BAC85664;BAC85675;CAD97987;CAD98049;CAL38586;EAW91722;EAW91723;EAW91724;EAW91725;NP_861452;Q7Z388 Hs.567828 1680994;1688396;1689418;1690169;1705898;5015619;5037552;5117897 D11S3114;D8S2279;GDB:631813;RH91269;RH92780;RH93346;RH98467;SHGC-81215 MGC131885 OTTHUMP00000227016;dpy-19-like protein 4;probable C-mannosyltransferase DPY19L4;protein dpy-19 homolog 4 protein-coding ENSG00000156162 27829 11259 613895 VALIDATED 731730 DPYD dihydropyrimidine dehydrogenase The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 1 1 p22 97315887 98159203 - 97543299 98386615 - 1580863;1624989;1599789;1300048;2317629;2317630;2317631;6480464;6907045;7240710 7626590;10348793;20072795;18309485;16619549 16820886;16806531;16786143;16771603;16361556;16344560;16328315;16132996;16021908;15999119;15993511;15939134;15709212;15316940;15254700;15132136;15102667;15069545;15025795;15017333;14702180;14654904;14562021;14519634;12851836;12844478;12822071;12576451;12477932;12360106;12209976;12047484;12025228;11992400;11895907;11862480;11555601;11267945;11072080;10923099;10606257;9464498;9439663;9266349;9170156;9135003;8892022;8221682;7713523;3335642;2528450;2319593;1901022;1544906;8083224;1512248;10410956;18075467;11988088;9348115;19473056;19343046;19296131;19295264;19288105;19178088;19154585;19104657;19020767;18937829;18705276;18537153;18452418;18443386;18347391;18299612;18225548;18004243;17905396;17876700;17848752;17828463;17699798;17612628;17582310;17582309;17445431;17417073;17397246;17377791;17375478;17335544;17203168;17165084;17121937;17046731;17000685;16969493;22490566;22593457;22641663;18619742;19530960;19546880;19571608;19636001;19724871;19822137;19858398;19898482;19956635;20037211;20157331;20379614;20385995;20453000;20507294;20647710;20530282;20544545;20570913;20647221;20653680;20665215;20714149;20819423;20407238;20809970;20803296;21057378;20837458;21507922;19795123;21612699;20714877;22939629;23313143;21822266;21111509;21498394;21919605;21965773;22688191;21114665;22006578;22143355;22339448;21987572;22199347;21963094;22003227;22306127;22270332;22510597;23453885;22505724;23401991 1806 B4DML1;Q16761 AB003063;ABBA01045471;ABBA01045472;ABBA01045473;ABBA01045474;ABBA01045475;ABBA01045476;ABBA01045477;AC091608;AC093576;AC099787;AC114878;AC138135;AI124948;AK291217;AK297515;AL356457;AL645494;AMYH01000816;AMYH01000817;AMYH01000818;AMYH01000819;BC008379;BC064027;BC108742;BC131777;BC131778;BT006740;BX908805;CH471097;DA721123;NG_008807;NM_000110;NM_001160301;U09178;U20938;U57655;X95670 AAA57474;AAB07049;AAB51366;AAH08379;AAH64027;AAI08743;AAI31778;AAI31779;AAP35386;BAA89789;BAF83906;BAG59923;CAA64973;EAW73002;EAW73003;NP_000101;NP_001153773;Q12882 Hs.335034 1658978;1665767;1666680;1669651;1688624;1692066;1692578;1692986;1696264;1700670;1705190;1706430;1710938;1716373;1721863;1751385;1753599;1754081;1852619;1856106;2136540;2157970;2166358;2182939;5019873 AL009678;AL009912;AL009925;AL009994;AL034016;AL034057;AL034211;G30582;G34876;G54618;G59961;RH103958;RH121366;RH17430;RH66034;RH80889;SHGC-105236;SHGC-107533;SHGC-12941;SHGC-132118;SHGC-75193;SHGC-80046;SHGC-80794;SHGC-83640;SHGC-84442 DHP;DHPDHASE;DPD;MGC132008;MGC70799 OTTHUMP00000037640;OTTHUMP00000037641;dihydropyrimidine dehydrogenase;dihydropyrimidine dehydrogenase [NADP(+)];dihydropyrimidine dehydrogenase [NADP+];dihydrothymine dehydrogenase;dihydrouracil dehydrogenase APPROVED protein-coding ENSG00000188641 3012 02036 274270;612779 REVIEWED 1603291 DPY30 dpy-30 homolog (C. elegans) DPY30 is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008] 2 2 2 p22.3 32093842 32109716 - 32102476 32118348 - 32248972 32264844 - 6480464 22231628;16189514;19481096;17500065;16730941;16260194;15489334;12477932;20857310;17620012;18838538;19556245;19615732;19651892;16159877;19047629;19759913;23275444;20668708;22939629;18029348;20305087;21139048;21906983;17620599;21628590 84661 B4DIS3;H7C0Z0;Q9C005 ABBA01074865;ABBA01202213;AF226998;AL121655;AMYH01010227;BC015970;BI752326;CD704815;CH471053;NM_032574 AAH15970;AAK00640;EAX00463;EAX00464;EAX00465;EAX00466;NP_115963;Q9C005 Hs.531788 1851757;2118797 D2S2830;RH36577 HDPY-30;Saf19 OTTHUMP00000158573;OTTHUMP00000201128;OTTHUMP00000201132;OTTHUMP00000201133;dpy-30-like protein;dpy-30L;protein dpy-30 homolog APPROVED protein-coding 24590 17434 612032 VALIDATED 68541 DPYS dihydropyrimidinase Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008] 8 8 q22 105460829 105548453 - 105391652 105479277 - 1599001;1624989;1300048;1580863;6480464;6907045;7240710 9718352;7626590 10410956;18075467;18216719;17383919;15489334;12477932;10956643;8973361;3931905;19649633;20797317;20362666 1807 E5RG28;H0YEV7;Q14117 AB004678;ABBA01037648;ABBA01037649;AK311261;AMYH01018944;AP002847;AP003471;BC034395;CH471060;CQ840196;D78011;NG_008840;NM_001385 AAH34395;ADZ15412;BAA11189;BAA33067;CAH05690;EAW91893;NP_001376;Q14117 Hs.443161 1339959;1340937;1660416;1678903;1688418;1721945;1750725;2110375;2145475 D8S1459;D8S1738;DPYS_8314;G59856;RH12824;RH45444;RH80723;RH80769;SHGC-112121 DHP;DHPase OTTHUMP00000227837;dihydropyrimidinase;dihydropyrimidine amidohydrolase;hydantoinase APPROVED protein-coding ENSG00000147647 3013 01960 222748;613326 REVIEWED 735265 DPYSL3 dihydropyrimidinase-like 3 5 5 q32 146750564 146813453 - 146770371 146889619 - 1580863;6480464 17081983;8973361;9115293;16611631;15933812;15345747;12745088;12477932;12444086;11771764;10956643;10748015;10664068;1602151;21319273;18029348;20379614;20543870;20804502;22863883;12134159;21179545;17043677;20977846;21139048;21044950 1809 D6RF19;F5GWI3;H0YB87;H0YBT4;Q14195;Q6DEN2;Q8IXW6 ABBA01026324;ABBA01026325;ABBA01026326;ABBA01026327;AC011373;AF246692;AI570709;AK297223;AMYH01015692;BC039006;BC077077;CA424493;CH471062;D78014;EU007906;FB582079;FB723038;NM_001197294;NM_001387;Y07818 AAF76324;AAH39006;AAH77077;ABV80252;ACE86827;ACE86843;ACE87513;ACE87530;BAA11192;BAG59706;CAA69153;CAR95652;CAT03391;EAW61826;NP_001184223;NP_001378;Q14195 Hs.519659 1666343;1678127;1857169;2108037;2110993;2111009;2153807 1558;D5S563E;D5S564E;DPYSL3_8315;RH66349;WI-14610;WI-19514 CRMP-4;CRMP4;DRP-3;DRP3;LCRMP;ULIP;ULIP-1 OTTHUMP00000223926;OTTHUMP00000223927;collapsin response mediator protein 4 long;dihydropyrimidinase-related protein 3;unc-33-like phosphoprotein 1 protein-coding ENSG00000113657 3015 03104 601168 VALIDATED 737533 DPYSL4 dihydropyrimidinase-like 4 10 10 10 q26 127645533 127664406 + 133850394 133869256 + 134000414 134019280 + 1580863;6480464 9652388;15164054;12477932;11771764;10956643;10851247;10594648;8973361;16169070;20499313;12134159;21900206;21139048;21906983 10570 O14531;Q5T0Q6 AB006713;ABBA01006177;ABBA01006178;AL512622;AMYH01003202;BC029280;BC136329;BC136330;BC142974;CH471066;NM_006426;Y10976 AAI36330;AAI36331;BAA21886;CAA71872;EAW49131;EAW49132;EAW49133;EAW49134;EAW49135;EAW49136;EAW49137;EAW49138;NP_006417;O14531 Hs.100058 CRMP3;DRP-4;ULIP4 CRMP-3;OTTHUMP00000020757;OTTHUMP00000020758;ULIP-4;UNC33-like phosphoprotein 4;collapsin response mediator protein 3;dihydropyrimidinase-related protein 4 protein-coding ENSG00000151640 3016 07463 608407 VALIDATED 737388 DPYSL2 dihydropyrimidinase-like 2 This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 8 8 p22-p21 26491338 26571610 + 26371709 26515693 + 1580863;2303056;2316241;2316251;6480464 17402852;19524114;11694350 12942088;8973361;16260607;18029348;19405953;19328558;19151921;19110265;18460467;18218617;18203259;17683481;17229153;16964243;16611631;16380905;16321170;15858820;15672539;15489334;15207709;14702039;12951196;19322201;12477932;12134159;11771764;11741937;11121447;10956643;10818093;12482610;10770920;10757975;10574455;8640231;8125298;7637782;15652488;18583979;19659462;19666111;20379614;20381070;20414250;16344560;20801876;21302347;22431514;19235893;17500595;22863883;15342556;19519308;21521879;21642979;21832084;21860090;21271304;22279220;17043677;21139048;21890473;21900206;22227566;22443207;22586326;21565611;21988832;23000965;23023514;21319273;22954668;23185275;21694731 1808 E5RFU4;Q16555;Q59GB4 AB020777;AB209195;AB370194;AB370195;ABBA01005572;ABBA01005573;ABBA01005574;AC015564;AC015743;AK092377;AK223557;AK291287;AK299077;AMYH01018593;BC056408;BC067109;BP222303;BX461557;BX463316;BX647115;CH471080;D78013;DA649686;DC333865;DC344356;FB582075;FB723034;NG_030020;NM_001197293;NM_001244604;NM_001386;U17279;X91250 AAA93202;AAH56408;AAH67109;BAA11191;BAA86991;BAC03872;BAD92432;BAD97277;BAF83976;BAF94338;BAF94339;BAG61143;CAR95650;CAT03389;EAW63573;EAW63574;NP_001184222;NP_001231533;NP_001377;Q16555 Hs.593187 1647882;1651858;1703346;1703776;1725597;2120128;2153467;2185006;2186056 2092;A002O30;D8S1383E;D8S1589;G62088;RH45542;SHGC-68590;SHGC-83221;STS-N39248 CRMP-2;CRMP2;DHPRP2;DRP-2;DRP2;N2A3;ULIP-2;ULIP2 CRMP-2;N2A3;OTTHUMP00000125291;OTTHUMP00000225221;OTTHUMP00000225222;OTTHUMP00000225223;ULIP-2;collapsin response mediator protein 2;collapsin response mediator protein hCRMP-2;dihydropyrimidinase-like 2 long form;dihydropyrimidinase-related protein 2;unc-33-like phosphoprotein 2 APPROVED protein-coding ENSG00000092964 3014 03914 602463 REVIEWED 1312375 DQX1 DEAQ box RNA-dependent ATPase 1 2 2 2 p13.1 74576422 74584516 - 74598766 74606826 - 74745258 74753408 - 6480464 16344560;14702039;12477932 165545 C9J0W1;H7BZE3;Q8TE96 AA515987;ABBA01075602;AC005041;AK074337;AK092420;AMYH01010454;BC033238;BC075018;BM987933;CH471053;DA852016;NM_133637 AAH75018;BAB85056;EAW99626;EAW99627;EAW99628;NP_598376;Q8TE96 Hs.191705 1734746;2128786;2141034;2171782 D2S1537E;FB21B7;RH68516;WI-19737 FLJ23757 ATP-dependent RNA helicase DQX1;DEAQ RNA-dependent ATPase DQX1;DEAQ box polypeptide 1 (RNA-dependent ATPase);OTTHUMP00000160425;OTTHUMP00000200308 protein-coding ENSG00000144045 20410 13249 VALIDATED 6892965 DRAXINP1 dorsal inhibitory axon guidance protein pseudogene 1 X p22.31 8751555 8752480 - 100128801 ABBA01070664;AC003685;AMYH01022062;NG_022580 pseudo 44334 INFERRED 733917 DPYSL5 dihydropyrimidinase-like 5 This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 2 2 p23.3 26924469 27024571 + 27070969 27173219 + 632609;632608;1580863;6480464 10851247;11034345 18931014;18769332;18347453;18306241;15489334;14702039;12838519;12477932;12093729;11549731;11220734;10956643;16169070;12134159;23373749;16344560;21139048;22581228;23251661;21988832;23298946 56896 E7ESV0;E7EWB4;E9PHT0;Q9BPU6 ABBA01045191;ABBA01045192;AC011740;AC013472;AF157634;AF264015;AJ251275;AK022795;AK127314;AL713706;AMYH01010194;AW139156;BC002874;BC128218;BT006871;CH471053;DA410946;FB582081;FB723040;NM_001253723;NM_001253724;NM_020134 AAF80348;AAH02874;AAK16830;AAP35517;AAX93268;AAY14652;ABM81681;CAB95124;CAD28503;CAR95653;CAT03392;EAX00667;EAX00668;NP_001240652;NP_001240653;NP_064519;Q9BPU6 Hs.299315 1734978;1774935;1857958;2150073;2157254;5015619;5022200;5037552 D11S3114;D2S1722E;D8S2279;IB426;L18426;RH12657;T03602;WI-18667 CRAM;CRMP-5;CRMP5;FLJ45383;Ulip6 CRMP3-associated molecule;DRP-5;OTTHUMP00000122586;OTTHUMP00000200913;ULIP-6;UNC33-like phosphoprotein 6;collapsin response mediator protein 5;collapsin response mediator protein-5;dihydropyrimidinase-related protein 5 APPROVED protein-coding ENSG00000157851 20637 10522 608383 VALIDATED 1605066 DRAM1 DNA-damage regulated autophagy modulator 1 This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008] 12 12 12 q23.2 101935130 101981421 + 100795236 100841532 + 102271105 102317401 + 6480464 17397945;17102582;16839881;16839873;16344560;14702039;12477932;17207965;19556885;19706754;21832049;22981223;21386980;22082963;22525272;23337876;19895784;23273568 55332 B7Z4T0;H0YHJ0;H0YHV0;Q8N682 ABBA01053233;ABBA01053234;ABBA01053235;AC063950;AC084398;AI079438;AK002121;AK094923;AK297785;AMYH01004703;BC013773;BC018435;CH471054;DA721965;NM_018370 AAH13773;AAH18435;ADQ31610;BAA92091;BAG52956;BAH12666;EAW97685;EAW97686;NP_060840;Q8N682 Hs.525634 1657772;1746337;2115663 G64541;RH47280;SHGC-57247 DRAM;FLJ11259 DNA damage-regulated autophagy modulator protein 1;OTTHUMP00000243828;damage-regulated autophagy modulator APPROVED protein-coding ENSG00000136048 25645 07743 610776 REVIEWED 1604537 DRAM2 DNA-damage regulated autophagy modulator 2 1 1 1 p13.3 109906960 109929839 - 111461481 111484238 - 111659954 111682838 - 6480464 16710414;16303743;15489334;12975309;12477932;18029348;19556885;19895784;20379614;21584698;22001757;19322201 128338 Q6UX65 ABBA01068396;AK075350;AK309557;AL355816;AL833098;AMYH01000945;AY336747;AY358492;BC047025;BC091509;BQ006335;CH471122;DC339928;EF710624;NM_178454 AAH47025;AAH91509;AAQ88856;AAR02410;ABR27678;BAC11562;EAW56464;EAW56465;EAW56466;EAW56467;EAW56468;NP_848549;Q6UX65 Hs.485606 1665081;1682842;1694866;1717189;2107389;2174259 G44307;MGC54289__7726;RH121517;RH98960;SHGC-75311;SHGC-75315 MGC54289;PRO180;RP5-1180E21.1;TMEM77;WWFQ154 DNA damage-regulated autophagy modulator protein 2;OTTHUMP00000013685;damage regulated autophagy modulator 2;transmembrane protein 77 protein-coding ENSG00000156171 28769 14685 613360 VALIDATED 1313088 DR1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008] 1 1 p22.1 93584066 93600737 + 93811478 93828149 + 1580863;6480464 8764062;8608938;8670811;1339312;19204005;18838386;18538002;17584739;16710414;16189514;15574413;15489334;14702039;12477932;11461703;9040789;8972183;8884286;8836190;8125298;12927788;15893730;19965767;20534741;20230619;20936779;22939629;22863883;21139048;19322201 1810 Q01658;Q658N3 ABBA01045526;AK057541;AK223442;AK311288;AL137159;AL833729;AMYH01000801;BC002809;BC035507;BC068553;BT006972;CH471097;M97388;NM_001938 AAA58442;AAH02809;AAH35507;AAH68553;AAP35618;BAD97162;BAG51931;CAH56250;EAW73072;EAW73073;EAW73074;EAW73075;EAW73076;NP_001929;Q01658 Hs.348418 1690560;1704238;1774272;2218508;5096324 D1S3361;DR1_4193;RH79801;SHGC-56991;SHGC-83240 NC2;NC2-BETA OTTHUMP00000012556;OTTHUMP00000012557;TATA-binding protein-associated phosphoprotein;negative cofactor 2-beta;protein Dr1 APPROVED protein-coding ENSG00000117505 3017 03284 601482 REVIEWED 1318268 DRAP1 DR1-associated protein 1 (negative cofactor 2 alpha) Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008] 11 11 q13.3 65443304 65445607 + 65686728 65689048 + 6480464 8608938;19204005;17994103;17548813;16713569;16484223;16189514;16169070;15509807;15489334;12927788;12477932;12477712;12471260;11461703;10852970;9418848;8972183;8670811;15893730;15574413;21832049;22863883;22939629;21900206;21139048;21906983;18838386 10589 C9JCC6;E9PMW2;E9PNC7;E9PQX9;Q14919 ABBA01024097;AMYH01003727;AP006287;BC010025;BG036132;BG719065;BQ773919;CH471076;NM_006442;X96506 AAH10025;ABZ92465;CAA65358;EAW74472;NP_006433;Q14919 Hs.356742 1655788;2142411 D11S4689;RH71230 NC2-alpha OTTHUMP00000234061;OTTHUMP00000234062;OTTHUMP00000234063;OTTHUMP00000234065;OTTHUMP00000234066;dr1-associated corepressor;negative co-factor 2-alpha;negative cofactor 2 alpha APPROVED protein-coding ENSG00000175550 3019 03796 602289 REVIEWED 1605894 DRC1 dynein regulatory complex subunit 1 homolog (Chlamydomonas) 2 2 2 p23.3 26468325 26523128 + 26478288 26533082 + 26624784 26679579 + 6480464 15815621;14702039;12477932;23319000;23354437 92749 C9JCG3;F8WE02;H7C3V0;Q96MC2 ABBA01045182;AC010896;AC093378;AK057222;AK289953;AK307094;AL833892;AMYH01010192;BC009488;CH471053;NM_145038 AAY14647;AAY15082;BAB71385;BAF82642;CAD38748;EAX00688;EAX00689;NP_659475;Q96MC2 Hs.393714 1665291 D2S2798 C2orf39;CCDC164;CILD21;FLJ32660;MGC16372 CG10958-like;OTTHUMP00000155191;coiled-coil domain containing 164;coiled-coil domain-containing protein 164;dynein regulatory complex protein 1;hypothetical protein LOC92749 APPROVED protein-coding ENSG00000157856 24245 11312 615288;615294 VALIDATED 1349573 DRD5P1 dopamine receptor D5 pseudogene 1 2 2 p11.1 91235538 91237787 - 91871911 91874157 - 1387108 1817 Q8NGW2 AB065661;AC027612;AMYH01010657;NG_005112 BAC05887 1742195 GDB:193457 pseudo 3027 INFERRED 736138 DRD4 dopamine receptor D4 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008] 11 11 p15.5 627305 630703 + 637305 640706 + 1358608;1625010;1331525;1600948;1580863;2311591;6480464;5686422;5686412;1358609;7240710;7248596;7248550;7248607;7248549;7248616;7248606 9118321;17314300;15118671;7881421;17395336;21906006;17182012;14699430;17171658;18413491;10898895;18947481;20810614;11431226 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1815 P21917;Q99587 AB065765;AB107017;AB107018;AB107019;ABBA01015197;ABBA01015198;AF395210;AF395211;AF395212;AF395213;AF395214;AF395215;AF395216;AF395217;AF395218;AF395219;AF395220;AF395221;AF395222;AF395223;AF395224;AF395225;AF395226;AF395227;AF395228;AF395229;AF395230;AF395231;AF395232;AF395233;AF395234;AF395235;AF395236;AF395237;AF395238;AF395239;AF395240;AF395241;AF395242;AF395243;AF395244;AF395245;AF395246;AF395247;AF395248;AF395249;AF395250;AF395251;AF395252;AF395253;AF395254;AF395255;AF395256;AF395257;AF395258;AF395259;AF395260;AF395261;AF395262;AF395263;AF395264;AMYH01003290;AMYH01003291;AP006284;AY151027;AY151029;AY151030;AY151031;AY151032;AY151033;AY151034;AY151035;AY151036;AY151037;AY151038;BM674709;CH471158;EU432112;L12397;L12398;NG_021241;NM_000797;S76942;S82917;S82918 AAB33728;AAB46802;AAB46803;AAB59386;AAI72267;AAL35159;AAL35160;AAL35161;AAL35162;AAL35163;AAL35164;AAL35165;AAL35166;AAL35167;AAL35168;AAL35169;AAL35170;AAL35171;AAL35172;AAL35173;AAL35174;AAL35175;AAL35176;AAL35177;AAL35178;AAL35179;AAL35180;AAL35181;AAL35182;AAL35183;AAL35184;AAL35185;AAL35186;AAL35187;AAL35188;AAL35189;AAL35190;AAL35191;AAL35192;AAL35193;AAL35194;AAL35195;AAL35196;AAL35197;AAL35198;AAL35199;AAL35200;AAL35201;AAL35202;AAL35203;AAL35204;AAL35205;AAL35206;AAL35207;AAL35208;AAL35209;AAL35210;AAL35211;AAL35212;AAL35213;AAL58637;AAN73253;AAN73255;AAN73256;AAN73257;AAN73258;AAN73259;AAN73260;AAN73261;AAN73262;AAN73263;AAN73264;ABY87911;BAC05985;BAD00718;BAD00719;BAD00720;EAX02369;NP_000788;P21917 Hs.99922 1661979;1690204;1742425;1743241;1743827;1791626;1791896;5019373 GDB:196985;GDB:311107;GDB:374242;PMC117557P1;PMC130047P1;PMC130047P2;RH27290;RH71428 D4DR D(2C) dopamine receptor;D(4) dopamine receptor;OTTHUMP00000164435;dopamine D4 receptor;dopamine receptor 4;seven transmembrane helix receptor APPROVED protein-coding ENSG00000069696 3025 00541 126452;143465;601696 REVIEWED 1605526 DRAXIN dorsal inhibitory axon guidance protein 1 1 1 p36.22 10863842 10892408 + 11674368 11702923 + 11751781 11780336 + 6480464 12975309;16710414;16303743;15489334;15340161;14702039;12477932;18347602;19150847;19857465 374946 Q8NBI3 AB301919;ABBA01003057;AK075558;AK092318;AK311439;AL031731;AL953897;AMYH01000258;AY358750;BC021286;BC111064;BM928129;CH471130;NM_198545 AAI11065;AAQ89110;BAC11697;BAG52531;BAG80561;EAW71700;EAW71701;NP_940947;Q8NBI3 Hs.632364;Hs.733197 1674857;1722329;2191283 AL009489;G60231;MARC_17073-17074:1023811913:3 AGPA3119;C1orf187;FLJ34999;MGC117222;UNQ3119;neucrin OTTHUMP00000002262;dorsal repulsive axon guidance protein;neural tissue-specific cysteine-rich protein APPROVED protein-coding 25054 11844 612682 VALIDATED 1354254 DRD5P2 dopamine receptor D5 pseudogene 2 1 1 q21.1 147168815 147171063 + 148902094 148904339 + 7890157;1765268;1387108 1818 Q8NH22 AB065590;AL513526;AMYH01001372;FP700107;NG_005113 BAC05819 pseudo 3028 INFERRED 1353814 DRGX dorsal root ganglia homeobox 10 10 10 q11.23 44160334 44186078 - 50244167 50269913 - 50574161 50599907 - 728579;6480464 7496632 22394158;22228203 644168 A6NNA5;C9JW76 ABBA01041072;AC027674;AL138760;AMYH01002642;CH471187;DW009785;HY131276;NM_001080520;NM_001276451 A6NNA5;EAW93100;NP_001073989;NP_001263380 Hs.534530 DRG11;PRRXL1 OTTHUMP00000019579;dorsal root ganglia homeobox protein;paired related homeobox-like 1;paired-like homeodomain trancription factor DRG11;paired-related homeobox protein-like 1 protein-coding ENSG00000165606 21536 606701 VALIDATED 70828 DRD1 dopamine receptor D1 This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008] 5 5 q35.1 174800281 174803769 - 174867675 174871163 - 1580869;1625010;1580863;1600981;1300303;1300302;2302119;2311600;2302117;5686414;2311591;6480464;5686412;6907447;7248446;7248682;7248550;2311588;7248621;7248613;7248622;7248457;7248448;7248449;2314489;7248452;7248595;7248447;7248592;7248455 10948075;17314300;16855100;8636408;7954836;15798088;1386820;18815258;12111832;17395336;17182012;22171983;20339101;16905556;18413491;17558292;20513244;21527662;20435100;14612384;18402547;15983225;19582783;17353515;23041629;19675531;23762129;16365282 1831904;1282671;17194762;7838121;8301582;2144334;11500503;19413572;19367581;19235789;19197069;19182156;19176223;19171671;19156168;19153942;19143836;19105202;19086053;19058789;19005068;19000940;18984584;18946469;18937842;18937294;18855532;18832011;18821566;18687376;18676680;18644790;18615540;18558372;18516948;18451638;18424554;18403126;18382271;18366720;18341651;18270970;18237729;18210231;18205172;18197272;18172057;18092181;18030347;18023044;17679637;17506933;17466946;17455212;17395585;17394052;17310237;17092969;17066478;16876683;16846218;16816977;16594948;16424823;16397404;16391193;16344560;16338988;15927089;15785860;15722953;15717291;15704231;15621009;15607627;15569306;15564897;15549138;15489334;15272078;15247297;15192107;15159403;14993367;14569274;12967601;12966314;12781734;12738794;12646556;12509874;12509438;12497608;12477932;12408866;12181426;12164861;12150791;12047334;11920160;11918350;11893085;11783439;11773080;11723200;11583808;11331877;11140838;10890919;10692483;10618483;10051231;9920093;9457173;8810292;8264547;2168520;1977312;1975640;1557411;20395553;18240029;18583979;18689859;19170196;19523047;19563515;19625176;19647327;19692168;19695183;19772578;19786093;19864616;19874574;19897079;20071033;20081237;20180564;20351714;20382433;20407490;20452395;20456319;20468064;19913121;20164562;20531939;20592018;20628086;20677014;20714340;20732903;20734064;20807772;21041608;21083670;20672519;12036966;20127886;21211326;21178390;21115476;21768159;22710646;21181138;22093926;22206002;21976513;21549202;21258043;21797797;22100647;18403039;20685009;22336227;23185343;21893192;21955727;22404661;22699899;22764221;23185434;22277051;22310353;22408582;23036699;22495174;23195037;22574669;21853233;22552781;22843680;23251661 1812 P21728;Q6FH34 AB065677;ABBA01043995;AC091393;AF498961;AK314031;AMYH01015837;BC074978;BC074979;BC096837;CH471062;CR541922;DA249160;M85247;NG_011802;NM_000794;S58541;X55758;X55760;X58987 AAB26273;AAH74978;AAH74979;AAH96837;AAM18131;BAC05902;BAG36741;CAA39284;CAA39286;CAA41734;CAG46720;EAW61376;EAW61377;NP_000785;P21728 Hs.2624 1694898;1742849;1743065;1743067;1743069;1743071;1745129;1745131;1745133;1745135;1745909;1794328;1795700;1849889;2113812;2117399;2139170;2183229;5492723 D5S2403;DRD1;DRD1_599;G44335;GDB:210842;GDB:251589;GDB:251590;GDB:251591;GDB:251592;GDB:595086;GDB:595113;GDB:595139;GDB:595147;GDB:681987;PMC311033P2;RH16255;RH18117;SGC34944;UniSTS:482142 DADR;DRD1A D(1A) dopamine receptor;OTTHUMP00000161116;dopamine D1 receptor APPROVED protein-coding ENSG00000184845 3020 00538 126449 REVIEWED 736796 DRD2 dopamine receptor D2 This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008] 11 11 q23 112785527 112851091 - 113280317 113346001 - 1581445;1580874;1580883;1580884;1625068;1600905;1625010;1358603;1331525;1600903;1600904;1580863;2311602;2311593;2311582;2311594;2311601;2311580;2311554;2311576;2311585;2311586;2311588;2311591;1624999;2311590;2311553;2311579;2311581;2311587;5686416;6480464;5686414;6907450;6907448;6907449;6907443;6907447;7240710;7248682;7248592 12121979;11494094;11474153;8287413;16490190;15939106;17314300;9513185;15118671;10220438;17108814;18366720;16972103;8199600;16820021;18834717;18509630;19500946;19467315;18289173;18284941;17558292;17395336;17174299;17492273;19576243;18707801;18477764;18276072;11087905;12111832;20813060;22126770;21596067;22902996;22171983;16905556;23762129 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;19874574;19896213;19897017;19900188;19913597;19925838;19929252;19940176;19944766;19956635;19961866;19961902;19968402;19997080;20002020;20033274;20046399;20071033;20081237;20091846;20099571;20116437;20138949;20146828;20150882;20155917;20164326;20170711;20179754;20180013;20194480;20197060;20199723;20205808;20210499;20305408;20308994;20350135;20351714;20357494;20368439;20373846;20375926;20388573;20403997;20410253;20421849;20431429;20436453;20446882;20452395;20461808;20464528;20468064;20472301;20488209;20505554;20526230;20532925;7921596;21113497;21130611;19913121;20498850;20531939;20554694;20567893;20577142;20588308;20592018;20602615;20628086;20664489;20665240;20672519;20678555;20712524;20714340;20716857;20067857;20188195;21075859;20561550;20122683;20410875;20629610;2834384;20554017;20962241;20970071;18331682;20063113;20305604;11261743;20691427;20732903;20734064;20807772;20862259;20888323;20945430;21039487;21041608;21061227;21063774;21070510;21083670;21084796;21087673;19728374;19795175;20349050;18577758;20952497;21040702;21107309;22579533;22683321;22521396;22798433;23238469;19803686;21184734;21095016;21261454;21256133;20874815;19406852;20574053;20924884;21168353;21233215;21205584;21287294;22963930;21168125;20716856;21292452;21499141;21510979;21670104;21540761;21354244;21493728;21645585;23260856;23616522;20631684;21592505;21932834;22903038;21646367;23171335;22541053;22733030;22776462;21663922;21781348;21150907;21244440;21668745;21875085;23044341;23103549;22020993;22536882;22796099;22864973;22958175;22970199;23185343;23203481;21247255;22396414;21776983;21206399;21563886;21613303;21675993;21712758;21714067;21966540;22232963;22382052;22416052;21106310;21335363;21611724;21964403;22051885;22100647;22127489;21470832;22113132;22117524;22147558;22384243;20301587;21653722;21861710;21948329;22198450;22234337;22291025;22336227;22370928;22408582;22474103;22525159;22593996;22529362;22414959;22559203;22939506;21777187;22262089;21130502;22514151;22947540;22391864;21554498;23062296;21976709;22244514;23340505;21690048;22832851;22497991;22848508;22487365;22574669;22682503;22728571;22435397;23590110;22740151;23057570;16051151;21853233;22081881;22497994;22531292;22582185;22967772;22712841;22366823;23493394 1813 F8VUV1;P14416;Q6LDH7 AB065860;AB209832;AB451480;ABBA01039788;AF050737;AF176812;AK308777;AMYH01004038;AP002840;BC021195;BF437994;CH471065;DA693976;HC295428;M29066;M30625;M77249;NG_008841;NM_000795;NM_016574;S58589;S62137;S69899;X51362;X51645;X51646 AAA52328;AAA52761;AAA88023;AAA88024;AAB20571;AAB26274;AAB26819;AAC78779;AAF61479;AAH21195;ABM82846;ABM86030;BAC06078;BAD93069;BAG70294;CAA35746;CAB37869;CAB56463;CBJ06538;EAW67219;EAW67220;EAW67221;EAW67222;EAW67223;EAW67224;EAW67225;NP_000786;NP_057658;P14416 Hs.73893 1741737;1742325;1758575;1794336;2118980;2153471;2164854;2171163;2191059 DRD2;G10651;GDB:182528;GDB:196340;MARC_13871-13872:1007494510:1;PMC311033P6;RH11104;SGC31507;SHGC-148803 D2DR;D2R D(2) dopamine receptor;OTTHUMP00000236612;OTTHUMP00000236613;OTTHUMP00000236614;OTTHUMP00000236615;OTTHUMP00000236616;dopamine D2 receptor;dopamine receptor 2;dopamine receptor D2 isoform;seven transmembrane helix receptor 2289454 BW298_H APPROVED protein-coding ENSG00000149295 3023 00539 126450;159900 REVIEWED 1605735 DRD3 dopamine receptor D3 This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008] 3 3 q13.3 115330247 115380589 - 113847557 113897899 - 1625068;1626358;1626359;1626357;1358605;2311591;5686415;5686418;5686412;5686419;5686414;6480464;7175071;7240710 16490190;8225313;16650084;1362221;12535962;17395336;11597777;10495037;17182012;8618685;12111832;15619116 22573693;14499480;12967601;12960753;12834818;12811641;12808427;12796525;12781734;12740603;12721816;12673575;12632798;12605102;12605094;12555237;12509874;12497614;12497608;12477932;12218663;12210290;12207142;12181426;12109967;12082567;12062911;12047334;11920858;11911837;11864723;11857579;11839369;11796958;11762133;11723200;11673801;11490179;11478419;11425949;11400029;11384839;11378841;11341481;11149951;11140838;11140333;11121180;11104840;11063791;11024217;10978845;10670776;10432116;10391209;9457173;9288103;9034004;8678117;8415635;7961889;2129115;1975644;1916765;19086053;12351722;11320256;9843378;8301582;8413587;10692483;18424554;8815892;7911712;7907363;16839358;18325483;8666994;12860355;19647327;19645064;19562769;19524641;19506906;19506579;19503018;19457373;19439249;19396436;19367581;19363270;19358223;19353703;19352218;19309018;19302829;19275926;19266703;19235789;19217756;19217026;19207030;19156168;19142409;19105202;19095219;19092771;19058789;19041186;19041097;19011428;19000940;18987889;18987627;18831971;18821566;18756291;18703116;18644790;18637033;18636124;18579277;18562401;18552399;18551040;18510611;18496209;18484990;18481021;18472202;18451638;18449897;18404133;18393218;18389501;18379473;18366720;18351593;18348205;18320559;18316228;18295456;18270970;18218829;18197272;18045777;18043709;17924589;17923483;17784836;17698325;17671965;17662480;17593530;17579840;17466074;17429404;17407504;17225991;17208375;17175177;17171662;17119697;17109713;17102980;17039480;17018139;16969276;16959057;16816977;16809426;16759339;16583407;16513329;16424823;16395310;16160620;16094250;16056149;15998189;15935433;15917720;15785860;15695058;15687500;15643094;15635698;15626824;15567076;15564898;15553379;15539862;15520413;15500962;15489334;15390060;15383158;15342129;15121186;15102843;15094788;15083167;15081259;15004255;14732464;14681904;14634838;14628173;21110120;10415668;14519448;14617818;18240029;18583979;19106782;19464960;19494806;19520868;19522735;19604093;19636338;19653907;19669131;19693267;19766158;19772578;19874574;19897343;19956635;19997080;20029384;20071033;20180013;20218802;20236178;20334932;20351714;20379614;20399505;20434388;20452395;20456319;20468060;20468064;19913121;20565774;20602615;20628086;20667458;20672519;20714340;20732903;20734064;20945430;21041608;21083670;21097933;20970071;2834384;18577758;20952497;20188195;21030592;22386772;22297482;22940753;20716856;22776462;22172931;20698735;21873779;22940547;21595009;16386234;22234337;22291025;21948748;22186675;22970199;23185343;21691864;21663922;22802617;22414959;22877924;21853233;23288245;23365649 1814 E9PCM4;P35462 A19667;ABBA01061639;ABBA01061640;AC092896;AC093010;AJ271348;AK292309;AMYH01013398;AY228454;AY228455;AY228456;AY228457;AY228458;AY228459;BC095510;BC128122;BC128123;CH471052;L20469;NG_008842;NM_000796;NM_033663;U25441;U32499 AAA03543;AAA73929;AAB08750;AAH95510;AAI28123;AAI28124;BAF84998;CAA01483;CAB70095;EAW79605;EAW79606;EAW79607;EAW79608;EAW79609;EAW79610;EAW79611;EAW79612;NP_000787;NP_387512;P35462 Hs.121478 1742603;1744527;2159837 GDB:197934;GDB:512205;RH71216 D3DR;ETM1;FET1;MGC149204;MGC149205 D(3) dopamine receptor;OTTHUMP00000214909;OTTHUMP00000214910;OTTHUMP00000214911;dopamine D3 receptor;essential tremor 1 APPROVED protein-coding ENSG00000151577 3024 00540 126451;181500;190300 REVIEWED 731837 DRD5 dopamine receptor D5 This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008] 4 4 p16.1 9392701 9394731 + 9783258 9785633 + 1580887;734899;1600981;1358609;1580863;5686417;5686411;2311591;5686414;5686418;5686412;6480464;5686422;7240710 12486173;11781417;16855100;14699430;11032390;15389755;17395336;12111832;10495037;17182012;21906006 7633397;1532789;22710646;9457173;1826762;16352863;7727453;11036203;10531415;11500503;19506906;19352218;19266703;19171671;19156168;19105202;19086053;19058789;19024005;18855532;18665883;18636124;18563476;18464932;18270970;18172057;18164132;18081165;17579368;17501935;17427194;17394052;17325714;16774975;16526040;16389711;16380908;15717291;15635698;15489334;14755441;14732464;14581671;14509667;12967601;12700316;12660802;12623966;12509874;12477932;12351722;12047334;11459908;11445276;11353446;11140838;11054773;11024217;10659839;10391209;9603210;8288248;1834671;1833775;1831904;1774076;1387108;20164562;20531939;20714340;18240029;19397556;19673036;19682861;19772578;19786093;19874574;20006992;20180564;20398908;20468060;20468064;12036966;20734064;21083670;21115476;20864182;23152498;21348911;21893192;18403039;22309839;22403020;22203087 1816 P21918 ABBA01032505;AC098976;AK313897;AMYH01013993;AY136750;BC009748;CH471069;M67439;NG_012024;NM_000798;U21164;X58454 AAA52329;AAH09748;AAN01276;ABM82859;ABM86046;BAG36620;CAA41360;EAW92679;NP_000789;P21918 Hs.380681 1742195;1743225;1795248;2189135;5125036 DRD5_24;G65183;GDB:193457;GDB:305493;RH69165 D1B;DBDR;DRD1B;DRD1L2;MGC10601 D(1B) dopamine receptor;D1beta dopamine receptor;OTTHUMP00000158603;d(5) dopamine receptor;dopamine D5 receptor;dopamine receptor 5;dopamine receptor D1B APPROVED protein-coding ENSG00000169676 3026 00542 126453;143465;606798 REVIEWED 1321863 DSC1 desmocollin 1 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 q12.1 26963197 26996817 - 28709199 28742819 - 1580863;6480655;6480464 21382035 9810708;7679953;17562024;17088906;16628198;15140019;14673151;12707304;12231347;11790773;11442746;11027496;10644442;21319273;9606214;9214392;9192840;8884173;8507556;8486729;8288219;7971964;7665906;1713860;19615732;20562859;21800051;21139048;22118674;21628590;23412934;22438068;19380743;22797925 1823 Q08554;Q9HB00 ABBA01022520;AC012417;AF293358;AMYH01008922;CH471088;CU444724;CU447407;NG_029192;NM_004948;NM_024421;X72925;Y11051;Z34522 AAG23424;AAG23425;AAI48350;CAA51428;CAA51429;CAA84278;CAA84279;EAX01252;EAX01253;NP_004939;NP_077739;Q08554 Hs.567260 1682077;2135778 RH18129;SGC35630 CDHF1;DG2/DG3 OTTHUMP00000162824;OTTHUMP00000162825;cadherin family member 1;desmocollin-1;desmosomal glycoprotein 2/3 APPROVED protein-coding ENSG00000134765 3035 00511 125643 REVIEWED 1323416 DSC3 desmocollin 3 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 q12.1 26824050 26876779 - 28570052 28622781 - 1580863;6480464;7240710 7929347;19348003;19287461;18464913;17846785;17088906;16168112;15951569;12789271;12707304;11500511;11408939;11181078;11027496;10769211;10482015;9810708;8884173;8486729;7959727;7774948;7665906;1889810;12615965;20628624;21281804;19717567;19765682;20379614;7983064;20952584;21364582;22941060;21139048;21800051;21875946;21890473;23251661;23184149;22438068;22190034 1825 J3QRL9;Q14574 ABBA01022521;AC025212;AF293359;AF297090;AK074475;AK291748;AMYH01008921;BG697535;CH471088;D17427;NG_016782;NM_001941;NM_024423;X83929 AAG17896;AAG23426;AAG23427;BAA04249;BAF84437;CAA58781;EAX01247;EAX01248;EAX01249;NP_001932;NP_077741;Q14574 Hs.41690 1672766;1678455;1679213;1685572;1764857;1795704;5014051;5022651;5037552;5117108 D11S2921;D8S2278;D8S2279;DSC3_580;GDB:437227;RH35913;RH39274;RH47848;SHGC-148419;SHGC-35086 CDHF3;DSC;DSC1;DSC2;DSC4;HT-CP cadherin family member 3;desmocollin-3;desmocollin-4 APPROVED protein-coding ENSG00000134762 3037 02604 600271;610476;613102 REVIEWED 732493 DSCAM Down syndrome cell adhesion molecule This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 21 21 q22.2 40306213 41140909 - 41384343 42219039 - 734901;1580863;6480464;6484113 11280955 16009131;9426258;19240061;19211897;19196994;18519826;18197079;15169762;12435380;12051741;10925149;10830953;22744455;18585357;19945391;20379614;21079520;21507922;23518928;21645617;21906983;21360594;17721508;23251661;22685302 1826 O60469;Q8WY19 AB209136;ABBA01009317;ABBA01009318;ABBA01009319;ABBA01009320;ABBA01009321;ABBA01009322;ABBA01009323;ABBA01009324;ABBA01044672;ABBA01044673;ABBA01044674;ABBA01044675;ABBA01044676;ABBA01044677;AF023449;AF023450;AF042090;AF042091;AF043945;AF064862;AF064863;AF064864;AF064865;AF064866;AF086100;AF165176;AF217525;AF289030;AL163281;AL163282;AL163283;AMYH01012253;AMYH01012254;AMYH01012255;AMYH01012256;AMYH01012257;AMYH01012258;AMYH01012259;AMYH01012260;AMYH01012261;BE503065;CH471079;NM_001271534;NM_001389;NR_073202 AAC17966;AAC17967;AAF27525;AAL56711;BAD92373;CAB90436;CAB90444;CAB90464;EAX09620;EAX09621;NP_001258463;NP_001380;O60469 Hs.397800 1336877;1338800;1340033;1645964;1656604;1657418;1659164;1662769;1662771;1663654;1671255;1676284;1681670;1694772;1695636;1704980;1721075;1730696;1730698;1730892;1730900;1735036;1756981;1757039;1757407;1769501;1774539;1787452;1794000;2110377;2128514;2138832;2156873;2159254;2172959;2175873;2182502;2183620 D21S15;D21S1729E;D21S1806;D21S1840;D21S1887;D21S1889;D21S1906;D21S1965;D21S23;D21S348;D21S349;D5S1845;DSCAM__4776;G29038;G29042;G29047;G29050;G34687;G43599;G48509;G59520;PMC310729P5;RH68680;SHGC-11765;SHGC-144335;SHGC-144398;SHGC-144799;SHGC-152951;SHGC-51860;SHGC-51874;SHGC-52082;SHGC-52084;SHGC-53823;SHGC-6872;SHGC-6874;SHGC-77994;SHGC-87651;STS-U44101 CHD2-42;CHD2-52 CHD2;Down syndrome cell adhesion molecule;OTTHUMP00000109193;OTTHUMP00000109194;human CHD2-52 down syndrome cell adhesion molecule protein-coding ENSG00000171587 3039 03953 602523 REVIEWED 6481037 DSCAM-IT1 DSCAM intronic transcript 1 (non-protein coding) 21 41990433 42002693 - 11329013;23251661 100874326 ABBA01044675;AF165176;AMYH01012259;BG221591;NR_046774 Hs.679746 zag4 miscrna 41327 PREDICTED 1312753 DRG1 developmentally regulated GTP binding protein 1 22 22 22 q12.2 15596029 15630660 + 30125539 30160172 + 31795539 31830172 + 1580863;6480464 9824680;1280421;18029348;19058789;17178897;16189514;15489334;15461802;15184886;12702552;12477932;10760581;10591208;8649774;7929244;1449490;16169070;19819225;22990118;17709345;21110914;18781797;20639865;21139048;21693764;21890473;21906983;21963094;15676025;21907836;17361185;19622774;21628590;19380743;22053931;22505724;22797925 4733 F8WEE0;H0YI06;Q9Y295 ABBA01055329;ABBA01055330;ABBA01055331;AF078103;AJ005940;AK098576;AK315659;AL096701;AL096702;AL133085;AMYH01012716;BC019285;BC020803;BT007237;BU584654;CH471095;CR456488;CR542059;NM_004147 AAD12240;AAH19285;AAH20803;AAP35901;ABM81616;ABM84798;BAG38025;CAA06775;CAB61403;CAG30374;CAG46856;CAK54479;CAK54778;EAW59974;EAW59975;EAW59976;NP_004138;Q9Y295 Hs.115242 1652067;1781076;1803932;1813292;1820970;1823242;1833028;1834102;1837072;1838354;1840644;1840646;2005846;2005848;2005850;2005852;2005854;2005856;2005858;2005860;2005862;2005864;2005866;2005868;2005870;2005872;2005874;2005876;2005878;2005880;2005882;2005884;2005886;2005888;2005890;2005892;2005894;2005896;2005898;2005900;2005902;2005904;2005906;2005908;2005910;2005912;2005914;2005916;2005918;2005920;2005922;2005924;2005926;2005928;2005930;2005932;2005934;2005936;2005938;2005940;2005942;2005944;2005946;2005948;2005950;2005952;2005954;2005956;2005958;2005960;2005962;2005964;2005966;2005968;2005970;2005972;2005974;2005976;2005978;2005980;2005982;2005984;2005986;2005988;2005990;2005992;2005994;2005996;2005998;2006000;2006002;2006004;2006006;2006008;2006010;2006012;2006014;2006016;2006018;2006020;2006022;2006024;2006026;2006028;2006030;2006032;2006034;2006036;2006038;2006040;2006042;2006044;2097358;2097360;2097362;2097364;2097366;2097368;2097370;2097372;2097374;2097376;2097378;2097380 ECD02880;ECD07666;ECD11561;ECD12710;ECD17655;ECD18199;ECD19700;ECD20351;ECD21512;ECD21513;REN73839;REN73840;REN73841;REN73842;REN73843;REN73844;REN73845;REN73846;REN73847;REN73848;REN73849;REN73850;REN73851;REN73852;REN73853;REN73854;REN73855;REN73856;REN73857;REN73858;REN73859;REN73860;REN73861;REN73862;REN73863;REN73864;REN73865;REN73866;REN73867;REN73868;REN73869;REN73870;REN73871;REN73872;REN73873;REN73874;REN73875;REN73876;REN73877;REN73878;REN73879;REN73880;REN73881;REN73882;REN73883;REN73884;REN73885;REN73886;REN73887;REN73888;REN73889;REN73890;REN73891;REN73892;REN73893;REN73894;REN73895;REN73896;REN73897;REN73898;REN73899;REN73900;REN73901;REN73902;REN73903;REN73904;REN73905;REN73906;REN73907;REN73908;REN73909;REN73910;REN73911;REN73912;REN73913;REN73914;REN73915;REN73916;REN73917;REN73918;REN73919;REN73920;REN73921;REN73922;REN73923;REN73924;REN73925;REN73926;REN73927;REN73928;REN73929;REN73930;REN73931;REN73932;REN73933;REN73934;REN73935;REN73936;REN73937;REN73938;STS-R96070;stSG602020;stSG602021;stSG602022;stSG602023;stSG602024;stSG602027;stSG602028;stSG602029;stSG602030;stSG602031;stSG602032;stSG602033;stbK210G9SP6 DKFZp434N1827;NEDD3 DRG-1;NEDD-3;OTTHUMP00000028883;developmentally regulated GTP-binding protein 1;developmentally-regulated GTP-binding protein 1;neural precursor cell expressed developmentally down-regulated protein 3;neural precursor cell expressed, developmentally down-regulated 3 protein-coding ENSG00000185721 3029 16034 603952 VALIDATED 1312583 DSCAML1 Down syndrome cell adhesion molecule like 1 11 11 11 q23 114456148 114825824 - 116803699 117173186 - 117298489 117667976 - 1580863;6480464 11453658;12051741;19074352;18519826;12421765;12168954;10574461;19945391;20201926;20379614 57453 E9PP71;G3V1B5;Q8TD84 AB032958;ABBA01039718;ABBA01039719;ABBA01039720;ABBA01039721;ABBA01039722;ABBA01039723;ABBA01039724;ABBA01039725;AF304304;AF304305;AF334384;AF491813;AK025940;AMYH01004062;AMYH01004063;AMYH01004064;AP000711;AP000757;AP001554;AP002342;CH471065;NM_020693 AAI56377;AAL57166;AAM09558;AAN32613;AAN32614;BAA86446;EAW67322;EAW67323;NP_065744;Q8TD84 Hs.659513 1336026;1340138;1644780;1651503;1658001;1662525;1687924;1703624;1713655;1721803;1722941;1731823;1731829;1732381;1733744;1737077;1737145;1737747;1751191;1755027;1763509;1777201;1782338;1852306;1853709;2111774;2114836;2124023;2129583;2131755;2158396;2218512;5094302;5494189;7186120 D10Bir8;D11S1091;D11S1163;D11S1373;D11S1376;D11S1858;D11S2060;D11S2085;D11S2472;D11S2829;D11S29;D11S3005;D11S3345;D11S4026;D11S4092;D11S4127;D11S4473;D11S4559;D11S490;DSCAML1__4777;G54698;G59923;G60568;RH120709;RH68617;SHGC-105111;SHGC-141970;SHGC-144571;SHGC-147206;SHGC-30873;SHGC-31198;SHGC-34966;SHGC-78717;WI-14137 KIAA1132 Down syndrome cell adhesion molecule-like protein 1;Downs syndrome cell adhesion molecule like 1;OTTHUMP00000235017;OTTHUMP00000235053;down syndrome cell adhesion molecule 2 protein-coding ENSG00000177103 14656 10921 611782 PROVISIONAL 732671 DRP2 dystrophin related protein 2 Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X q22 100361589 100406141 + 100474933 100519485 + 1580863;6480464 8640231;18401567;17105906;17044845;16854501;15858820;15027329;14702039;12951196;12679234;12477932;11430802;10767429;16344560;17851739;17683050 1821 F2Z3K8;Q13474 AB209305;ABBA01044955;ABBA01044956;ABBA01044957;AK091670;AK289825;AK295843;AL022155;AMYH01022725;BC036095;BC111695;CH471115;DA324498;NG_016403;NM_001171184;NM_001939;U43519;Z68331;Z70280;Z70281 AAC50538;AAI11696;BAD92542;BAF82514;BAG58652;CAO03505;EAX02844;EAX02845;EAX02846;NP_001164655;NP_001930;Q13474 Hs.159291 1685023;1685702;2157071;2218768 DRP2__4774;DXS7033E;RH44293;RH80834 MGC133255 DRP-2;OTTHUMP00000023672;OTTHUMP00000196858;dystrophin-related protein 2;dystrophin-related protein 2 a-form splice variant APPROVED protein-coding ENSG00000102385 3032 02083 300052 REVIEWED 1343223 DRG2 developmentally regulated GTP binding protein 2 This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012] 17 17 p11.2 17932008 17952017 + 17991181 18011299 + 1580863;6480464 7929244;16189514;15489334;15113831;14702039;12477932;11997338;10828610;10760581;10552926;9605870;9434906;21296692;18029348;20877624;22863883;22939629;16344560;21139048;21890473;21906983;21987572;15676025;22505724 1819 A8MZF9;J3KRL5;J3QKV7;J3QKW7;J3QL90;J3QLF3;J3QQI1;J3QR71;J3QRI9;P55039 AB209340;ABBA01009738;AC087164;AI478627;AK095755;AK295575;AK297569;AK313362;AMYH01008164;BC000493;BC062572;BT006976;CH471196;DA602486;DC298961;NM_001388;X80754 AAH00493;AAP35622;ABM81694;ABM84855;BAD92577;BAG36162;BAG58474;BAG59960;CAA56730;EAW55669;EAW55670;EAW55671;NP_001379;P55039 Hs.78582 1851326;2163229;2218510 DRG2__4773;RH65958;WI-13499 DRG-2;OTTHUMP00000065704;OTTHUMP00000065705;developmentally regulated GTP-binding protein 2;developmentally-regulated GTP-binding protein 2 APPROVED protein-coding ENSG00000108591 3030 04286 602986 REVIEWED 6481041 DSCR4-IT1 DSCR4 intronic transcript 1 (non-protein coding) 100874327 AP001415 miscrna 41328 1605687 DROSHA drosha, ribonuclease type III Members of the ribonuclease III superfamily of double-stranded (ds) RNA-specific endoribonucleases participate in diverse RNA maturation and decay pathways in eukaryotic and prokaryotic cells (Fortin et al., 2002 [PubMed 12191433]). The RNase III Drosha is the core nuclease that executes the initiation step of microRNA (miRNA) processing in the nucleus (Lee et al., 2003 [PubMed 14508493]).[supplied by OMIM, Mar 2008] 5 5 p13.3 31436358 31568039 - 31400601 31532282 - 4144851;6480464;6907045 20661255 10976766;15574589;17474147;18632581;19138993;19135890;19092150;19047128;18559093;17626073;17581865;17255951;17121874;17081983;16344560;15987463;15932881;15565168;15531877;15489334;14702039;14508493;12477932;12191433;10948199;10713462;15589161;22381205;23305493;19721432;19759829;20210522;20211803;20379614;20083228;22162762;20805302;20732906;20819778;20585341;20705240;20721975;22371183;22393237;22647351;22935707;21559780;21690333;21697496;16147992;17765891;21769619;21794839;21953080;21987572;21139048;21683814;21890473;22394132;22479364;22554933;21898071;22496623;9464850;21145461;22796965;15231748;21963094;23225145;23266047;23272639;22766726 29102 E5RHD1;H0YB67;H7C5U6;Q9NRR4 AA917625;AB209501;ABBA01066716;ABBA01066717;AC008768;AC022417;AC106802;AF116910;AF189011;AJ242976;AK001121;AK026563;AK308093;AMYH01014992;AMYH01014993;BC024261;BC041162;BC054003;BX647724;CH471118;DB065470;HC879388;HD033097;NM_001100412;NM_013235 AAD29637;AAF80558;AAH41162;AAH54003;BAA91511;BAD92738;CAB45133;CBM42910;CBV35643;EAX10767;EAX10768;EAX10769;EAX10770;NP_001093882;NP_037367;Q9NRR4 Hs.97997 1679856;1704386;1728651;1740363;1756357;1780186;2151361;2190539;5037552 D5S2192E;D8S2279;EST20D9;G63617;RH78996;RH92866;SHGC-143335;SHGC-154556;SHGC-79713 ETOHI2;HSA242976;RANSE3L;RN3;RNASE3L;RNASEN OTTHUMP00000220910;OTTHUMP00000220911;OTTHUMP00000220912;OTTHUMP00000220913;RNase III;drosha, double-stranded RNA-specific endoribonuclease;drosha, ribonuclease type III;nuclear RNase III Drosha;p241;protein Drosha;putative protein p241 which interacts with transcription factor Sp1;putative ribonuclease III;ribonuclease 3;ribonuclease III, nuclear;ribonuclease type III, nuclear APPROVED protein-coding ENSG00000113360 17904 10196 608828 VALIDATED 5132453 DSCAM-AS1 DSCAM antisense RNA 1 21 21 26954097 26956372 + 41755010 41757285 + 12177779;12477932 100506492 ABBA01044677;AF042090;AF401029;AF401030;AF401031;AF401032;AF401033;AF401034;AF401035;AMYH01012255;BC071816;NR_038896;NR_038898;NR_038899;NR_038900 Hs.667053 5037552 D8S2279 M41 APPROVED miscrna ENSG00000235123 40197 VALIDATED 5134931 DSCR6P1 DSCR6 pseudogene 1 14 14 19307204 19307706 - 39442732 39443234 - 100421053 ABBA01061542;AL132994;AMYH01005682;NG_027264 pseudo 23340 INFERRED 1353222 DSCR10 Down syndrome critical region gene 10 (non-protein coding) 21 21 21 q22.13 24776453 24778941 + 38500120 38502608 + 39578250 39580738 + 15489334;12477932;12168953;20485444 259234 P59022 AB066291;ABBA01011097;ABBA01011098;AMYH01012239;AP001425;AW663423;BC093855;BX115939;CH471079;NR_027695 AAH93855;BAC07550;EAX09688;P59022 Hs.147695 2220492 UniSTS:483550 APPROVED miscrna ENSG00000233316 16302 10922 VALIDATED 1604296 DSCC1 DNA replication and sister chromatid cohesion 1 CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009] 8 8 8 q24.12 117035242 117057287 - 120915397 120937330 - 120846181 120868170 - 6480464 16344560;14702039;12975309;12930902;12766176;12477932;12171929;20826785;19907496;16682347;18499658;22939629;21906983;21963094 79075 Q9BVC3 ABBA01037821;AC021945;AK054585;AK058129;AK074355;AK315356;AMYH01018987;AP005717;AW149121;AY358866;BC001316;BC001531;CH471060;DA346021;NM_024094 AAH01316;AAH01531;AAQ89225;ABM82193;ABM85381;BAB70767;EAW91994;EAW91995;NP_076999;Q9BVC3 Hs.315167 DCC1;MGC5528 OTTHUMP00000228194;defective in sister chromatid cohesion 1 homolog;defective in sister chromatid cohesion protein 1 homolog;sister chromatid cohesion protein DCC1 APPROVED protein-coding ENSG00000136982 24453 13123 613203 VALIDATED 1319763 DSC2 desmocollin 2 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 q12.1 26900004 26936375 - 28645942 28682388 - 1580863;6480464;6907045;7240710 21325624;2037591;18957847;18819935;18678517;18632414;17963498;17186466;17088906;17033975;16740002;16335952;9074502;8889548;8507556;8486729;7959727;7929347;7774948;7750520;2112455;1889810;15489334;12707304;12477932;11870231;11853539;11790773;10737800;9810708;9443898;9404003;9325054;21062920;19863551;20031616;20031617;20197793;20215590;20621329;20525856;20864495;22184201;21220045;21875946;21139048;21890473;19322201;22014052;20301310;22438068 1824 Q02487;Q68DY8 ABBA01022521;AC012417;AK290313;AK297029;AMYH01008921;BC063291;BE813598;BU735677;BX648425;CH471088;CR749226;CS456343;CS456345;DC382631;EF017811;EF017812;NG_008208;NM_004949;NM_024422;X56807;Y08431 AAH63291;ABM88170;ABM88171;BAF83002;BAG59557;CAA40141;CAA40142;CAH18082;CAH56152;CAL91822;CAL91823;EAX01250;EAX01251;NP_004940;NP_077740;Q02487 Hs.95612 1687259;1687936;1736862;1741849;1795702 D18S963;DSC2_1254;GDB:185730;RH18110;RH93906 ARVD11;CDHF2;DG2;DGII/III;DKFZp686I11137;DSC3 OTTHUMP00000162822;OTTHUMP00000162823;cadherin family member 2;desmocollin-2;desmosomal glycoprotein II;desmosomal glycoprotein II/III;desmosomal glycoprotein III APPROVED protein-coding ENSG00000134755 3036 00512 125645;610476 REVIEWED 1350545 DSCR9 Down syndrome critical region gene 9 (non-protein coding) 21 21 21 q22.13 23779339 23791278 + 37502674 37515907 + 38580804 38594037 + 6480464 15489334;12477932;12168953;20463881;17207965;21832049 257203 P59020 AB066100;AB212286;AB212287;AB212288;AB212289;AB212290;AB212291;ABBA01057413;ABBA01057414;AK313458;AMYH01012231;AMYH01012232;AMYH01012233;AP001432;BC029827;BC066653;CH471079;NR_026719 ADQ33075;BAC07549;BAG36245;EAX09715;P59020 Hs.505159 NCRNA00038 miscrna ENSG00000230366 16301 10925 VALIDATED 1352817 DSCR4 Down syndrome critical region gene 4 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. This gene is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 24624880 24656149 - 38348183 38415324 - 39426313 39493454 - 18086574;16288839;15489334;12477932;10830953;9503011;9455479 10281 A8MZ14;E9PRE8;P56555 AB000099;ABBA01000225;ABBA01011098;AI817192;AMYH01012239;AP001409;AP001410;AP001417;AP001420;BC069729;BC096162;BC096163;BC096164;CH471079;DQ179113;NM_005867 AAH69729;AAH96162;AAH96163;AAH96164;ADR82732;BAA25877;EAX09691;NP_005858;P56555 Hs.23251 1335967;1759829;1759831;2218516;7186304;7187507 D21S259;DSCR4__4781;SHGC-170069;SHGC-170070 DCRB;DSCRB Down syndrome critical region protein 4;Down syndrome critical region protein B APPROVED protein-coding ENSG00000184029 3045 05318 604829 REVIEWED 1315747 DSCR3 Down syndrome critical region gene 3 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 23794111 23838219 - 37517596 37561703 - 38595726 38639833 - 1580863;6480464 16780588;15489334;12477932;10830953;9503011;9399594;21900206;21987572;21139048;21890473;21906983 10311 A8MTY9;A8MY26;B7Z606;B7Z6B1;E7EWN9;O14972 ABBA01057414;ABBA01057415;ABBA01057416;AJ001867;AK126461;AK299662;AK300024;AK303624;AK307465;AK312707;AK316460;AMYH01012233;AP001412;AP001432;BC110655;BX648191;CH471079;D87343;NG_009410;NM_006052 AAI10656;BAA23225;BAG35585;BAH13092;BAH13197;BAH14000;BAH14831;CAA05058;EAX09710;EAX09711;EAX09712;EAX09713;EAX09714;NP_006043;O14972 Hs.369488 1653974;1653976;1854700;2120010;2128147;2146479;2170611;5015619;5015881;5037552;5106329 A005S21;D11S3114;D8S2279;G20460;GDB:335751;SHGC-10481;SHGC-51954;SHGC-52005;SHGC-87617;SHGC-9597;STS-N32500 DCRA;DSCRA;MGC117385 Down syndrome critical region protein 3;Down syndrome critical region protein A;OTTHUMP00000109095;OTTHUMP00000109096;OTTHUMP00000109098 APPROVED protein-coding ENSG00000157538 3044 10390 605298 REVIEWED 1320531 DSG1 desmoglein 1 Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. [provided by RefSeq, Jul 2008] 18 18 q12.1 27152050 27191392 + 28898052 28937394 + 1598781;1580863;2316254;6480655;6480464;6907045;7240710 10332028;19500802;21382035 1770008;12582396;12485422;16286477;1711210;19546243;19157795;19136012;19018793;18752129;18637128;18331528;17960181;17640963;17194569;17058228;17056584;16740002;16628198;16484817;16242304;16026580;15610512;15606501;15140227;14675185;12880431;12880414;12847106;12787134;12707304;12209366;12093888;12058255;11790773;11294567;9606214;9443898;9405290;8143788;8034325;7790000;7738346;1889810;1754823;1720352;17353931;17643375;19453789;19571823;19615732;19717567;20116975;20208534;7983064;21191415;21163944;20861311;21075858;21182205;19156129;19850743;21139048;21565611;23524970;21628590;22276604;22189787;21145461;21319273;22798673;22797925 1828 B7Z845;Q02413 ABBA01022514;AC009717;AF088042;AF097935;AJ001716;AK302888;AMYH01008923;BX476267;CH471088;NG_011803;NM_001942;X56654 AAC83817;AAI48375;AAI53002;BAH13831;CAA04949;CAA39976;EAX01254;NP_001933;Q02413 Hs.2633 1662032;1670907;1680028;1682758;1741847;2114126;2178156 DSG1;GDB:185729;RH18108;RH99223;SHGC-11960;SHGC-57616;STS-T69781 CDHF4;DG1;DSG;PPKS1;SPPK1 DGI;OTTHUMP00000162826;cadherin family member 4;desmoglein-1;desmosomal glycoprotein 1;pemphigus foliaceus antigen APPROVED protein-coding ENSG00000134760 3048 00515 125670;148700 REVIEWED 1312897 DSE dermatan sulfate epimerase The protein encoded by this gene is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q22 117344314 117502508 + 116707976 116866135 + 116601283 116759442 + 1580863;6480464;6907045 16505484;10679095;16344560;15489334;14702039;14574404;12477932;11920522;11092984;19004833;22350411;21906983;21988832 29940 B7Z1T3;B7Z765;Q9UL01 ABBA01026046;AF098066;AK095123;AK128607;AK301513;AL050331;AL590542;AL832471;AMYH01016617;BC039245;BC043526;CH471051;DB282412;NG_033266;NM_001080976;NM_013352;Z84488 AAF00087;AAH39245;ABM82187;ABM85373;BAG54699;BAH13501;EAW48229;EAW48230;NP_001074445;NP_037484;Q9UL01 Hs.458358 1652213;1658796;1683635;1764969;2117431;2133426;2143359;2147481;2217934 A008K19;D6S1448;RH27490;RH70193;SART2_3581;SHGC-148523;SHGC-34640;STS-N35795;STS-R33137 DSEP;DSEPI;SART-2;SART2 DS epimerase;OTTHUMP00000017059;SART-2;chondroitin-glucuronate 5-epimerase;dermatan-sulfate epimerase;squamous cell carcinoma antigen recognized by T-cells 2 APPROVED protein-coding ENSG00000111817 21144 05807 605942 REVIEWED 1353764 DSCR8 Down syndrome critical region gene 8 21 21 21 q22.2 24691744 24726809 + 38415469 38450475 + 39493545 39528605 + 15489334;15472897;12477932;12213769;12036297;11920614;11329013;9503011 84677 Q6EXA9;Q96T75 AA707621;AA770014;ABBA01011098;AF321193;AF426256;AJ001904;AJ297914;AJ301615;AJ305085;AJ306839;AJ306840;AJ783421;AMYH01012239;AP001417;BC015981;BC029353;BC070229;BC117304;BC117330;BC143995;BG189423;CH471079;NR_026838;NR_026839;NR_026840;NR_026841;NR_026842 AAK52673;AAM53512;CAC82786;CAC84765;CAC84766;CAD29791;CAH03845;CAH03994;EAX09689;EAX09690;Q96T75 Hs.733345 1341211;1647264;1730684;1775918 AFM189XC5;D21S1883;D21S341;SHGC-51933 C21orf65;CT25.1a;CT25.1b;MMA-1;MMA-1a;MMA-1b;MMA1;MTAG2 miscrna ENSG00000198054 16707 10924 613396 VALIDATED 69028 DSPP dentin sialophosphoprotein This gene encodes two principal proteins of the dentin extracellular matrix of the tooth. The preproprotein is secreted by odontoblasts and cleaved into dentin sialoprotein and dentin phosphoprotein. Dentin phosphoprotein is thought to be involved in the biomineralization process of dentin. Mutations in this gene have been associated with dentinogenesis imperfecta-1; in some individuals, dentinogenesis imperfecta occurs in combination with an autosomal dominant form of deafness. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q21.3 88748705 88757049 + 88529681 88538025 + 734904;1580863;6480464;7240710 11116156 18797159;9879917;8995371;19131317;19103209;19029076;19026876;22410369;18456718;18211748;17686168;17033625;16920545;16679514;16567553;16108038;16014627;15954904;15371433;15329369;12097430;11856645;11175790;11175779;10980418;10706475;9541230;9541227;9533027;9493074;18521831;21029264;20618350;19806576;19834535;20121932;20146806;20201926;20367116;20802180;21103065;22521702;20949630;23589294;21687927;21736673;22125647;20079836;22243242;22392858;22310900;23297400;23064961 1834 Q9NZW4 ABBA01063536;AC093895;AF094508;AF163151;AMYH01014380;CH471057;EU278634;EU278635;EU278637;EU278663;EU278672;EU284751;EU284752;EU284753;GU983874;GU983875;NG_011595;NM_014208 AAD16120;AAF42472;ABX82462;ABX82463;ABX82465;ABX82491;ABX82500;ABZ91540;ABZ91541;ABZ91542;ADI24678;ADI24679;EAX05993;EAX05994;EAX05995;NP_055023;Q9NZW4 Hs.678914 1737537;1792956 D4S2691;PMC17626P1 DFNA39;DGI1;DMP3;DPP;DSP;DTDP2 OTTHUMP00000219655;dentin phosphophoryn;dentin phosphoprotein;dentin phosphoryn;dentin sialophosphoprotein;dentin sialoprotein APPROVED protein-coding ENSG00000152591 3054 00508 125420;125485;125490;125500;605594 REVIEWED 1346596 DSS dosage-sensitive sex reversal 7240710 7951319 3055 118200;118220;118300;139393;145900;162500;180800;605253;607677;607736;607791 1348238 DSG3 desmoglein 3 Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This protein has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris. [provided by RefSeq, Jul 2008] 18 18 q12.1 27281730 27312663 + 29027732 29058665 + 1580863;6480464 11500511;19348003;19342368;19287199;19164289;18641320;18637128;18586466;18505410;18434319;18343367;18095943;17846785;17640963;17532189;17431647;17428808;17255524;17113829;17084439;16878157;16842599;16763546;16740002;16403096;16377623;16344560;16015083;14675184;12953062;12787134;12707304;12586364;12496453;12485422;12477932;12138195;11710914;11425269;10949543;9710446;9424092;9405290;9074502;8663392;8320263;8143788;8034325;7738346;1720352;1601426;19678820;19772629;20093368;20618495;20923451;21151980;22996451;21702856;21864491;22318391;22294297;22189787;22261006;22495379;23326495;23010602;22796473 1830 P32926;Q7Z2Z5 ABBA01022512;AC021549;AI608626;AK290367;AMYH01008924;BC063544;BC105997;BX110234;BX507120;BX538327;CH471088;CS223365;DA447747;DA458544;M76482;NM_001944;U51696;U52195;Y08432 AAA60230;BAF83056;CAD98098;CAJ46922;EAX01258;EAX01259;NP_001935;P32926 Hs.1925 1681656;1742023;2218518;5015619;5021256;5037552 D11S3114;D8S2279;DSG3__4783;G31539;GDB:189554;RH76240 CDHF6;DKFZp686P23184;PVA 130 kDa pemphigus vulgaris antigen;130-kD pemphigus vulgaris antigen;OTTHUMP00000162828;cadherin family member 6;desmoglein 3 (pemphigus vulgaris antigen);desmoglein-3;pemphigus vulgaris antigen APPROVED protein-coding ENSG00000134757 3050 01355 169615 REVIEWED 1317082 DSEL dermatan sulfate epimerase-like 18 18 18 q22.1 62023814 62033959 - 63324799 63334947 - 65173819 65183967 - 6480464 16505484;15489334;14702039;12556911;12477932;11752456;20358601;19734545;20125088;22779921 92126 Q8IZU8;Q9HAD7 ABBA01056267;AC110597;AF480435;AK021539;AK021849;AK023067;AMYH01009069;AV656576;BC062557;BC117325;CH471117;NM_032160 AAH62557;AAI17326;AAN32895;BAB13912;EAW66502;NP_115536;Q8IZU8 Hs.124673 1791276;5021872;5022578 D1S1423;MARC_9831-9832:996688635:1;sY3084 C18orf4 NCAG1;OTTHUMP00000163689;dermatan-sulfate epimerase-like protein protein-coding ENSG00000171451 18144 10720 611125 VALIDATED 1347324 DSTNP1 destrin (actin depolymerizing factor) pseudogene 1 21 q22.3 48073439 48073934 - 387492 ABBA01021772;AMYH01012341;AP000339;NG_028763 pseudo 23769 INFERRED 4144439 DSTNP2 destrin (actin depolymerizing factor) pseudogene 2 12 12 p13 8611125 8612182 + 6993846 6994950 + 9074930 171220 ABBA01017662;AMYH01004209;BM993550;NR_033796;U47924;U72518 Hs.661103 1690684;2144775;5015861;5109281;7185938 D10S16;D1S1425;RH71256;RH93443 pseudo ENSG00000248593 34546 VALIDATED 1322446 DSG2 desmoglein 2 Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jul 2008] 18 18 q12.1 27332170 27380754 + 29078027 29128814 + 1580863;6480464;6907045;7240710 19091121;18987342;18975006;18707543;18678517;18632414;18596851;18029348;17804817;17559062;17495963;17227756;17105751;17081983;16820949;16773573;16505173;16335952;16212419;15342556;15146197;12787134;12754519;12707304;12477932;11853539;11790773;11710948;10769205;10482015;9579833;9511724;9214392;8749329;8641550;8143788;7790000;1935985;1612610;23398456;19458482;19863551;20031616;20031617;20224006;20400443;20459474;20215590;19913121;20628086;20525856;20708101;22939629;20864495;20923451;21875946;20360068;21715983;21397041;22184201;21139048;21890473;21906983;22189787;20301310;20301486;22276604;23326490;23326495;21963094;22053931;23000965;23071725;23261431;22521077;22783993;23128240 1829 J3KSI6;Q14126 ABBA01022511;AC021549;AC079096;AK308408;AMYH01008924;BC014581;BC014584;BC017410;BC022413;BC065747;BC067229;BC099655;BC099656;BC099657;BP353513;CH471088;CN347023;CN395083;DC417739;DR158777;NG_007072;NM_001943;Z26317 AAH99655;AAH99656;AAH99657;CAA81226;EAX01261;EAX01262;NP_001934;Q14126 Hs.412597 1697288;1731371;1847433;2171881;2183878;5015619;5037552 D11S3114;D18S1242;D8S2279;G10645;G29763;RH102141;UniSTS:148229 ARVC10;ARVD10;CDHF5;CMD1BB;HDGC;MGC117034;MGC117036;MGC117037 HDGC;cadherin family member 5;desmoglein-2 APPROVED protein-coding ENSG00000046604 3049 00516 125671;610193;612877 REVIEWED 4144464 DSTNP3 destrin (actin depolymerizing factor) pseudogene 3 8 8 q21.11 70894516 70894968 + 74896629 74897119 + 100287016 ABBA01041977;AC022868;AMYH01018798;NG_028172 2171472 WI-15063 destrin (actin depolymerizing factor) pseudogene 3 pseudo 34547 INFERRED 7174970 DSTNP4 destrin (actin depolymerizing factor) pseudogene 4 3 p22.2 39244498 39256163 + 729454 ABBA01024809;AC092053;AMYH01013098;XM_001130287;XM_001717679;XM_003960328 XP_001130287;XP_001717731;XP_003960377 2129321;2146963 D3S2343;D3S4151 destrin (actin depolymerizing factor) pseudogene 4;destrin-like protein-coding 44548 MODEL 7174902 DSTNP5 destrin (actin depolymerizing factor) pseudogene 5 2 q33.3 205171565 205172084 + 100132132 ABBA01062623;AC009498;AMYH01011421;NG_021600 pseudo 44549 INFERRED 1348036 DSG4 desmoglein 4 This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 18 18 q12.1 27210738 27247877 + 28956740 28993880 + 1599796;1302434;1580863;6480464;7240710 15191570;15081105 17392831;16533311;16382669;15545999;15489334;12705872;12648213;12477932;15304105;16297213;16433681;16439973;16543896;16575393;17294735;19683850;22189787 147409 Q86SJ6 ABBA01022513;ABBA01022514;AC021549;AMYH01008924;AY168788;AY177663;AY177664;AY227350;AY228236;BC039098;BC132907;BC132909;CH471088;CS223437;HH935352;HI939082;HI939195;HI939308;HI987378;HI988533;HI988646;JA032901;JA033108;JA033709;JA142931;JA188682;JA188795;JA282369;JA288834;JA421468;NG_013040;NM_001134453;NM_177986 AAH39098;AAI32908;AAI32910;AAO43657;AAO47077;AAO47078;AAP45000;AAP49811;CAJ46939;CBX36877;CBY79749;CBY79768;CBY79787;CBY88743;CBY88771;CBY88790;CCA61679;CCA61698;CCA61717;CCA64044;CCA64165;CCA64184;CCA65394;CCA65425;CCD32754;EAX01256;EAX01257;NP_001127925;NP_817123;Q86SJ6 Hs.407618 CDGF13;CDHF13;LAH CDH family member 13;OTTHUMP00000162820;cadherin family member 13;desmoglein-4 APPROVED protein-coding ENSG00000175065 21307 06387 607892;607903 REVIEWED 1314043 DSP desmoplakin Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 2008] 6 6 p24 7486869 7531945 + 7541870 7586946 + 1580890;1580891;1580892;1580863;6480464;6907045;7240710 12875771;11063735;8944586 7525582;2391353;2247105;1889810;1731325;1716629;1689290;12615965;12707304;17353931;10908733;9887343;19271751;19016709;18632414;18596851;17593084;17475244;16917092;16628197;16565220;16467215;16365169;16175511;16061754;15941723;15500642;15494820;15381698;15302935;15190119;15146197;14574404;12482924;12426320;12373648;12366696;12101406;11955647;11841538;11790773;11790298;11132762;10852826;10801826;10737800;10594734;9780002;9739078;9651377;9606214;9417921;9348293;9261168;8999895;7525601;20634891;19913121;20628086;11500511;12477932;19386346;19863551;19924139;19945626;20031617;20215590;20524011;20936779;20525856;22454510;22791817;22939629;22949226;21156808;20864495;20940358;21145461;21319273;23383273;21536047;16196087;21458130;21756917;20738328;19596686;19815544;21397041;21697133;19156129;21800051;21993560;22118674;22586326;21139048;21890473;21906983;21963094;19805454;21565611;21642987;22213780;22304020;23455922;21789513;22132232;20301310;18474624;22240500;22898789;22190034 1832 P15924 AB209992;AB621818;ABBA01022044;ABBA01022045;AF139065;AI304615;AK130229;AK296756;AK301676;AK304182;AL031058;AL713599;AL713610;AMYH01016064;AW890985;BC140802;BC144587;CH471087;CN282963;CS673426;CS673464;CS690809;CS690847;FB665562;FB665600;GM706774;GM706812;HM151899;J05211;M77830;NG_008803;NM_001008844;NM_004415 AAA35766;AAA85135;AAF19785;AAI40803;ADI58529;BAC85309;BAE06074;BAG59338;BAG63149;BAG65062;BAK64154;CAP07480;CAP07499;CAP11448;CAP11467;CAR97062;CAR97081;CAT82278;CAT82313;EAW55215;NP_001008844;NP_004406;P15924 Hs.519873 1651658;1659646;1741851;1853106;2120407;2175855;2191253;2218520 A004I41;D6S2178;DSP__4785;GDB:185731;MARC_16807-16808:1042836779:1;RH46616;SHGC-35221;STS-T89283 DP;DPI;DPII 250/210 kDa paraneoplastic pemphigus antigen;OTTHUMP00000016001;OTTHUMP00000221297;desmoplakin;desmoplakin I;desmoplakin II APPROVED protein-coding ENSG00000096696 3052 00513 125647;605676;607450;607655;609638;612908 REVIEWED 1353084 DSN1 DSN1, MIS12 kinetochore complex component This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] 20 20 20 q11.23 32087712 32109752 - 34813862 34835563 - 35380194 35402230 - 6480464 15502821;16585270;18029348;20404110;18640974;18097444;17081983;16565220;15489334;14702039;12477932;11780052;15371340;17981135;17207965;21832049;15824131;20819937;22869522;20562864;22371557;20360068;21900206;20231385;21693764;21890473;21906983;21199919 79980 A8K3X3;Q5JW53;Q5JW54;Q5JW57;Q5JW58;Q9H410 AA534892;ABBA01006589;AK023408;AK093031;AK290738;AK301671;AK301840;AL132768;AMYH01011885;BC026011;BC035821;BC058899;CH471077;NM_001145315;NM_001145316;NM_001145317;NM_001145318;NM_024918 AAH26011;AAH58899;ADQ32591;BAB14564;BAC04024;BAF83427;BAG63144;BAG63283;EAW76101;EAW76102;EAW76103;EAW76104;EAW76105;EAW76106;EAW76107;EAW76108;NP_001138787;NP_001138788;NP_001138789;NP_001138790;NP_079194;Q9H410 Hs.632268 2158352;2161699 AL031191;Z94407 C20orf172;FLJ13346;KNL3;MGC32987;MIS13;dJ469A13.2;hKNL-3 DSN1, MIND kinetochore complex component, homolog;OTTHUMP00000030873;OTTHUMP00000030875;OTTHUMP00000030876;OTTHUMP00000030877;OTTHUMP00000030878;OTTHUMP00000030880;chromosome 20 open reading frame 172;kinetochore null 3 homolog;kinetochore-associated protein DSN1 homolog APPROVED protein-coding ENSG00000149636 16165 16455 609175 REVIEWED 1312065 DSTN destrin (actin depolymerizing factor) The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 p12.1 17498599 17536652 + 17550599 17588652 + 6480464 8399167;17583572;16815975;21319273;17196218;17081983;16189514;15862967;15816841;15489334;15231748;14627701;12700171;12665801;12477932;11812157;11780052;11418599;8674111;7615564;2156828;12775419;11832213;17353931;21571222;20835250;20873970;22898637;22939629;22118674;19471022;21139048;21890473;21906983;21963094;21987572;23000965;23509613;22505724;22797925 11034 F6RFD5;P60981 ABBA01054025;AI597935;AK302338;AK308562;AK312645;AK315994;AL132765;AMYH01011737;BC009477;BX647319;CH471133;CN482756;CR457042;CR541956;NM_001011546;NM_006870;S65738 AAB28361;AAH09477;ADZ15781;BAG35529;BAG63668;BAH14365;CAG33323;CAG46754;EAX10274;EAX10275;EAX10276;NP_001011546;NP_006861;P60981 Hs.304192;Hs.705996 1662642;1690684;1710100;2139312;2178380 D20S1015;RH17904;RH93443;SHGC-83719;STS-R82498 ACTDP;ADF;bA462D18.2 OTTHUMP00000030335;OTTHUMP00000062712;actin-depolymerizing factor;bA462D18.2 (destrin (actin depolymerizing factor ADF) (ACTDP));destrin APPROVED protein-coding ENSG00000125868 15750 16446 609114 REVIEWED 1604373 DSTYK dual serine/threonine and tyrosine protein kinase This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 1 1 1 q32.1 178246858 178315803 - 203378256 203447313 - 205111631 205180727 - 6480464 17353931;17123648;15489334;15178406;12477932;10737800;9455484;8889548;7829101;16751776;18029348;23251661 25778 C9J9G6;Q9P1S5 AB007941;ABBA01027425;ABBA01027426;ABBA01027427;ABBA01027428;AC093422;AF068286;AJ420466;AK298011;AMYH01001667;AMYH01001668;AY208850;AY429674;BC018303;BC048204;BC053627;BC060870;BC072406;BC117411;BC143603;BF836208;BI494979;BI494980;BM685960;BQ946417;BU168830;BU170290;BU528180;CA950005;CH471067;NM_015375;NM_199462 AAF65505;AAH48204;AAH53627;AAH60870;AAH72406;AAI17412;AAI43604;AAP42418;AAS55390;ACE87798;ACT64414;BAA32317;BAG60315;EAW91540;EAW91541;EAW91542;EAW91543;EAW91544;NP_056190;NP_955749;Q6XUX3 Hs.6874 1660972;1664325;1770888;1770934;1849656;1851666;2118659;2121816;2136065;2141209;2186837;5015861;5022576;5037552;7185938 D10S16;D1S1361;D8S2279;HSC26A082;RH69217;SHGC-76193;SHGC-76207;SHGC-76208;SHGC-76209;SHGC-76211;SHGC-76213;STS-M62021;STS-N25749;STS-Z41321 DustyPK;HDCMD38P;KIAA0472;RIP5;RIPK5 OTTHUMP00000035175;OTTHUMP00000035299;RIP-homologous kinase;dual serine/threonine and tyrosine protein kinase;dusty PK;dusty protein kinase;receptor interacting protein 5;receptor interacting protein kinase 5;receptor-interacting serine/threonine-protein kinase 5;sgK496;sugen kinase 496 APPROVED protein-coding ENSG00000133059 29043 11495 612666 REVIEWED 1605439 DST dystonin This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010] 6 6 p12.1 56430744 56816422 - 56713863 56820047 - 6480464 11751855;2461961;14581450;18207369;17920818;17161423;17081983;16512878;16344560;15725571;15560761;15489334;15342556;15231748;14705806;14702039;14576348;14574404;12802069;12542537;12482924;12477932;12421765;12168954;11323216;10727295;10637308;9872452;8889549;8575775;11375975;17043677;10428034;22558309;8889548;8621649;8349819;8345227;8010969;7919656;7818282;3880796;2645368;2579167;2276744;2090522;2045679;1717441;1712022;10811835;14668477;16757171;19403692;19632184;19932097;20164846;20379614;20936779;18029348;20800603;20479946;22939629;20811636;21642434;19616115;22586326;22678362;15840729;19596686;21139048;22522446;20682791;23000965;23269794;22337587;22995871;23455922;21638337 667 B4DGY0;B4DSS9;E7ERU0;E7ERU2;E7ERX3;E7ESK0;E7ETB9;E9PEB9;E9PHM6;F6QMI7;F8W9J4;H0YAT7;H0YBX0;H0YC65;H0YC82;J3QTQ0;Q5T0V7;Q6P0N6;Q96DQ5 AA150769;AB018271;ABBA01050496;ABBA01050497;ABBA01050498;AF083131;AF165191;AF400226;AF400227;AK023487;AK025142;AK055189;AK056797;AK090517;AK094883;AK095166;AK096713;AK125655;AK128632;AK294830;AK295864;AK299898;AL049215;AL096710;AL110142;AL137008;AL512448;AMYH01016368;AU117550;AY032900;AY032901;BC004912;BC016991;BC023254;BC051772;BC065536;BP348892;BU679879;BU685436;CD367397;CH471081;DA449443;DA462108;DA786051;DN994324;L08972;L11690;M22942;M63618;M69225;NG_029322;NM_001144769;NM_001144770;NM_001723;NM_015548;NM_183380;S73730;U04850;U31850;U31851;X58677;X75692;XM_003403438;XM_003403793;XM_003960363 AAA35538;AAA35606;AAA52288;AAA57184;AAA57185;AAC50243;AAC50244;AAD49334;AAF98241;AAH04912;AAH16991;AAH51772;AAH65536;AAK63130;AAK63131;AAL62061;AAL62062;BAA34448;BAB15077;BAB70870;BAC04449;BAC04848;BAG57941;BAG61741;BAH12207;CAA41528;EAX04456;EAX04457;EAX04458;EAX04459;EAX04460;EAX04461;EAX04462;EAX04463;EAX04464;EAX04465;EAX04466;EAX04467;NP_001138241;NP_001138242;NP_001714;NP_056363;NP_899236;Q03001;XP_003403486;XP_003403841;XP_003960412 Hs.604915;Hs.669931;Hs.728928;Hs.735651 1649805;1651770;1653941;1656473;1665625;1667616;1675062;1704894;1705384;1707368;1717977;1739539;1749615;1772802;1775559;1856342;2119552;2153854;2161013;2162465;2165955;2190573;5019771;5117032 A009Q46;D6S1122E;D6S1159E;D6S1514;D6S2014;EST4G12;G32793;GDB:377035;RH122815;RH15996;RH17608;RH46661;RH65030;RH68749;RH68834;RH69346;SHGC-111298;SHGC-24011;SHGC-79922;SHGC-83552;SHGC-84466;STS-H44575;STS-M69225;WI-11496 BP240;BPA;BPAG1;CATX-15;CATX15;D6S1101;DKFZp564B2416;DMH;DT;FLJ46791;HSAN6;KIAA0465;KIAA1470;MACF2 230/240 kDa bullous pemphigoid antigen;OTTHUMP00000016653;OTTHUMP00000016654;OTTHUMP00000016655;OTTHUMP00000016657;OTTHUMP00000016658;OTTHUMP00000224445;OTTHUMP00000224461;OTTHUMP00000224462;bullous pemphigoid antigen 1;bullous pemphigoid antigen 1, 230/240kDa;dystonia musculorum protein;hemidesmosomal plaque protein;trabeculin-beta APPROVED protein-coding ENSG00000151914 1090 00222 113810;614653 REVIEWED 3103432 DTHD1 death domain containing 1 This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 4 4 4 p14 36722811 36786900 + 35959791 36021841 + 36283237 36346407 + 12477932;14702039;8889548 401124 D6RB49;Q6ZMT9 ABBA01074291;AC104078;AK094684;AK131492;AK304357;AK316523;AMYH01014108;BC157885;BM978838;DC417013;NG_032962;NM_001170700;NR_073198 AAI57886;BAD18636;BAG65199;BAH14894;NP_001164171;Q6ZMT9 Hs.363407 1753455 SHGC-107364 FLJ16686;FLJ37365 OTTHUMP00000218099;OTTHUMP00000218100;death domain containing 1;death domain-containing protein 1 protein-coding 37261 REVIEWED 1319312 DTD2 D-tyrosyl-tRNA deacylase 2 (putative) 14 14 14 q12 11780548 11791986 - 30984993 30996431 - 31915242 31926680 - 6480464 15489334;14702039;12477932;8889548;21832049;22939629;19322201 112487 F8VVE1;Q96FN9 ABBA01061423;AK022703;AK055367;AL139353;AL163973;AMYH01005642;BC010618;BI553940;BU675173;CH471078;NM_080664 AAH10618;EAW65944;EAW65945;EAW65946;NP_542395;Q96FN9 Hs.116014 5020229;5037552 D8S2279;L17770 C14orf126;FLJ51408;MGC9912 OTTHUMP00000178788;probable D-tyrosyl-tRNA(Tyr) deacylase 2 APPROVED protein-coding ENSG00000129480 20277 16599 VALIDATED 1323478 DTD1 D-tyrosyl-tRNA deacylase 1 The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein is found in the cytoplasm. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18642655 18819080 + 18516556 18692561 + 18568556 18744561 + 1580863;6480464 15653697;15489334;14702039;12477932;12392168;11780052;8889548;21479357;17207965;20065034;20379614;22863883;18029348;21139048 92675 Q496C9;Q9H474 ABBA01054053;ABBA01054054;ABBA01054055;AF332356;AK074304;AK291440;AL121780;AL121900;AMYH01011743;AMYH01011744;AMYH01011745;BC000599;BC045167;BC100923;BC100924;BC100925;BC100926;BI465352;BU729150;CH471133;DB550292;NM_080820 AAH45167;AAI00924;AAI00925;AAI00926;AAI00927;AAL57046;ADQ32454;BAB85044;BAF84129;EAX10227;EAX10228;NP_543010;Q8TEA8 Hs.659442 1647166;1708576;1719529;1760233;1765025;2134071;2135655;2160561;2175879 RH123497;RH16215;RH46912;RH68095;SHGC-132525;SHGC-148571;SHGC-34790;SHGC-85074;Z94412 C20orf88;DUEB;HARS2;MGC119131;MGC41905;bA379J5.3;bA555E18.1;pqn-68 D-tyrosyl-tRNA deacylase 1 homolog;D-tyrosyl-tRNA(Tyr) deacylase 1;DNA-unwinding element-binding protein;OTTHUMP00000030364;histidyl-tRNA synthase-related APPROVED protein-coding ENSG00000125821 16219 610996 REVIEWED 1604324 DTWD1 DTW domain containing 1 15 15 15 q21.2 26806460 26830571 + 47700575 47723154 + 49913226 49937333 + 6480464 12477932;21832049;22041458 56986 H0YK73;H0YL61;H0YML0;H0YMP4;Q8N5C7 ABBA01039125;AC018927;AF168717;AK290184;AMYH01006633;BC018028;BC032535;BC093073;CH471082;NM_001144955;NM_020234 AAF87319;AAH18028;AAH32535;AAH93073;ABM81803;ABW03294;BAF82873;EAW77377;EAW77378;EAW77379;NP_001138427;NP_064619;Q8N5C7 Hs.127432 1681197;1851509;2129891;2137830 RH47894;RH48819;RH98968;SHGC-57453 MDS009;MGC111207 DTW domain-containing protein 1;OTTHUMP00000162307;x 009 protein protein-coding ENSG00000104047 30926 17474 VALIDATED 1604818 DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila) 1 1 q32 210275754 210344809 + 212208919 212278187 + 6480464 17041588;18794347;18703516;18649358;18542055;17106265;17085480;16964243;16949367;16861906;16861890;16710414;16344560;15489334;14702039;12477932;11278750;20433742;16751776;20932471;20932472;16964240;19615732;19672268;20929861;21725088;23109433;20606006;21822310;20360068;21035370;21550341;21846465;17110338;23000965;23213251;23478441;23478445;21987572;21987584;22287560;21139048;21890473;21906983;21963094;21220508;20881960;21145461;19295130;22505724;23029527;23066029 51514 F5GZ90;Q9NZJ0 ABBA01048185;AC092814;AF195765;AF345896;AK000742;AK001206;AK001261;AK027651;AK292343;AK299649;AK303346;AL592297;AL606468;AMYH01001703;BC033297;BC033540;BF508267;CH471100;DB070033;DQ641253;NM_016448 AAF35182;AAH33297;AAH33540;AAK54706;ABG23317;ADZ15474;BAA91355;BAA91552;BAA91586;BAB55267;BAF85032;BAG61569;BAG64408;EAW93395;EAW93396;EAW93397;EAW93398;NP_057532;Q9NZJ0 Hs.656473 1688044;2219602 RAMP__5641;RH91389 CDT2;DCAF2;L2DTL;RAMP DDB1 and CUL4 associated factor 2;DDB1- and CUL4-associated factor 2;OTTHUMP00000035221;RA regulated nuclear matrix associated protein;RA-regulated nuclear matrix-associated protein;denticleless homolog;denticleless protein homolog;lethal(2) denticleless protein homolog;retinoic acid-regulated nuclear matrix-associated protein APPROVED protein-coding ENSG00000143476 30288 17952 610617 VALIDATED 1319991 DTNB dystrobrevin, beta This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 p24 25440455 25736846 - 25453616 25750007 - 25600067 25896516 - 6480464 9395493;18391951;16448387;16189514;14759258;14702039;14623885;14600269;12477932;11316798;10747910;10545507;9540997;9419360;9146999;9110174;8619474;8125298;20530487;21347282;19931615;23502783;21139048;22120009 1838 B7Z202;B7Z6A9;E7ES64;E7EVB6;E9PE76;E9PEY4;F8W9U0;F8WD22;Q1I0L3;Q96AW0 ABBA01045148;ABBA01045149;ABBA01045150;ABBA01045151;ABBA01045152;AC010150;AC012074;AC019144;AC104699;AF022728;AF070567;AK094494;AK225724;AK294174;AK294357;AK300019;AK301386;AMYH01010184;BC016655;BC049366;BT009805;CH471053;DB460644;DQ160290;NM_001256303;NM_001256304;NM_001256308;NM_021907;NM_033147;NM_033148;NM_183360;NM_183361;R15062;Y12712;Y15718;Y15719;Y15720;Y15721;Y15722 AAC05082;AAC28643;AAH16655;AAH49366;AAP88807;AAY14762;AAY14840;AAY24111;AAY24207;ABA08463;ADZ15481;BAH11688;BAH11744;BAH13195;BAH13469;CAA73249;CAA75733;CAA75734;CAA75735;CAA75736;CAA75737;EAX00719;EAX00720;EAX00721;EAX00722;EAX00723;EAX00724;EAX00725;NP_001243232;NP_001243233;NP_001243237;NP_068707;NP_149159;NP_149160;NP_899204;NP_899205;O60941 Hs.307720 1691314;1715891;1851530;2109253;2111486;2141790 D1S3300;DTNB_8316;GDB:1317430;RH122680;RH80433;SHGC-32425 MGC17163;MGC57126 DTN-B;OTTHUMP00000201254;OTTHUMP00000201255;OTTHUMP00000201256;OTTHUMP00000201257;OTTHUMP00000201258;OTTHUMP00000201261;beta-dystrobrevin;dystrobrevin beta APPROVED protein-coding ENSG00000138101 3058 09091 602415 REVIEWED 1343196 DTNA dystrobrevin, alpha The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 18 18 q12 30327279 30725364 + 32073254 32471808 + 1580893;1580863;6480464;7240710 11238270 11353857;9119373;10767327;18299519;16713569;16344560;15835271;15834686;15024025;14702039;14623885;12899872;12604589;12477932;12475945;12416719;12206805;12034776;11316798;11069112;11053421;11053293;10767429;10747910;10735273;10545507;9701558;9533777;9419360;9356463;9215691;9146999;8845841;8631824;8576247;8081380;7844150;18468998;19615732;19961569;20379614;17207965;21115837;22939629;20111909;22507200;19931615 1837 A8K541;B7Z3X3;F8WE01;K7EIV1;K7EJ84;K7EMN1;K7ENJ7;K7ER73;K7ERH7;K7ERZ2;K7ESB2;M0QYX6;M0QZ28;M0R021;M0R0C4;Q59GK7 AB209102;ABBA01022455;ABBA01022456;ABBA01022457;ABBA01022458;ABBA01022459;ABBA01022460;AC009277;AC013290;AC022601;AC068506;AC103768;AI368045;AI670964;AJ009668;AK054766;AK291156;AK294746;AK295732;AK295789;AK296450;AK308410;AK315215;AL833285;AMYH01008935;AMYH01008936;AP002411;BC005300;BC033969;BC047095;BG250424;BG705393;BI668892;BT006937;BX103860;CF457303;CH471088;DA073612;DA142282;DA197970;DA398530;DC327958;DN991561;FJ535564;FJ535565;NG_009201;NM_001128175;NM_001198938;NM_001198939;NM_001198940;NM_001198941;NM_001198942;NM_001198943;NM_001198944;NM_001198945;NM_001390;NM_001391;NM_001392;NM_032975;NM_032978;NM_032979;NM_032980;NM_032981;R13506;R20627;R45531;T80537;U26742;U26743;U26744;U46744;U46745;U46746;U84540;U84547;U84551 AAB58541;AAB58542;AAB58543;AAC50424;AAC50425;AAC50426;AAC50429;AAC50430;AAC50431;AAH05300;AAP35583;AAP36484;ACE86506;ACE86539;ACE87187;ACE87219;ACU00915;ACU00916;ADQ32644;BAD92339;BAF83845;BAG57887;BAG58572;BAG58610;BAH12359;CAA08769;EAX01319;EAX01320;EAX01321;EAX01322;EAX01323;EAX01324;EAX01325;EAX01326;EAX01327;EAX01328;EAX01329;EAX01330;EAX01331;EAX01332;EAX01333;NP_001121647;NP_001185867;NP_001185868;NP_001185869;NP_001185870;NP_001185871;NP_001185872;NP_001185873;NP_001185874;NP_001381;NP_001382;NP_001383;NP_116757;NP_116760;NP_116761;NP_116762;NP_116763;Q9Y4J8 Hs.643454 1334557;1335671;1645474;1650067;1650069;1651874;1662568;1676326;1680128;1681042;1681334;1685910;1687377;1699312;1714149;1717015;1719367;1730773;1731769;1733718;1759691;1768064;1771960;1776034;1847377;1853489;2159583;2160646;2170123;2184998;2185647;5108399;7187023 A006B16;D18S104E;D18S1133;D18S1135;D18S522;D18S891;D18S892E;D18S911E;D6S1400E;G20674;HSC03H042;IB641;RH103242;RH119683;RH123411;RH124036;RH12493;RH26327;RH36366;RH46143;RH66177;RH66470;RH78470;RH81068;RH98997;SGC38125;SHGC-150924;SHGC-37630;SHGC-52539;WI-13334;WI-14278;WI-21186 D18S892E;DRP3;DTN;DTN-A;FLJ96209;LVNC1 OTTHUMP00000163151;OTTHUMP00000163152;OTTHUMP00000163153;OTTHUMP00000163154;OTTHUMP00000163155;OTTHUMP00000245175;OTTHUMP00000245176;OTTHUMP00000245177;OTTHUMP00000245178;alpha-dystrobrevin;dystrobrevin alpha;dystrophin-related protein 3 APPROVED protein-coding ENSG00000134769 3057 03141 601239;604169 REVIEWED 1342501 DTNBP1 dystrobrevin binding protein 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 p22.3 15631017 15771250 - 15523032 15663289 - 1358610;1580863;6480464;7240710 12474144 15102850;19369910;19367581;19353385;19335929;19328558;19252939;19219857;19142223;19089808;19077176;19065121;18804346;18797396;18562100;18516516;18473158;18466879;18411704;18314870;18234478;18198266;18182443;18180429;18162312;17989303;17964051;17961984;17945199;17888175;17618940;17604607;17555717;17476109;17445278;17433541;17410640;17408693;17407805;17336946;17300918;17290445;17264804;17192893;17074466;17055463;17033966;16980328;16967465;16959423;16946192;16930638;16899160;16876895;16837549;16513878;16448387;16415041;16407900;16283082;16189514;16133786;16044171;15917270;15820225;15489334;15374586;15362017;15345706;15274041;15248869;15211634;15124027;15124015;15121479;15066891;14702039;14688250;14618545;14574404;12923531;12888799;12808430;12591580;12576321;12477932;12453182;12191018;12098102;11316798;11230166;22337344;20598229;21130223;11031247;11252894;17474147;18583979;19349376;19439994;19449336;19475563;19482054;19496996;19497374;19573260;19615732;19617633;19621369;19631276;19650139;19672240;19729970;19782967;19800201;19859905;19862852;19884986;19937977;19996605;20010894;20083391;20180862;20199207;20421849;20921223;22283763;18029348;20822372;20829635;20846375;20951386;21041608;20602615;20615259;20615671;20638435;20666140;20174469;19760674;20301464;21184829;20683774;21520000;21390302;21305691;23497497;23612411;17043677;21295953;21512575;21639861;22019876;22911901 84062 A6NFV8;D6RAR7;D6RAX1;D6RB80;D6RCT8;D6RID1;D6RJC6;Q96EV8 ABBA01022173;ABBA01022174;AF061734;AF394226;AI097393;AK054593;AK290718;AK310590;AL021978;AL022343;AL136637;AMYH01016109;AMYH01016110;AY265460;BC011912;BE793298;BQ056746;BQ108775;BX394617;CH471087;NG_009309;NM_001271667;NM_001271668;NM_001271669;NM_032122;NM_183040;NR_036448 AAG43145;AAH11912;AAL46636;AAP91870;ACE86561;ACE86918;ACE87243;ACE87605;BAB70770;BAF83407;CAB66572;EAW55359;EAW55360;EAW55361;EAW55362;EAW55363;EAW55364;NP_001258596;NP_001258597;NP_001258598;NP_115498;NP_898861;Q96EV8 Hs.571148 1675567;1699986;1710880;1857161;2106471;2125727;2141456;7184723 D6S89;DTNBP1__4787;RH103603;RH46674;RH48727;RH94110;SHGC-84219;WI-18297 BLOC1S8;DBND;DKFZp564K192;FLJ30031;HPS7;MGC20210;My031;SDY BLOC-1 subunit 8;OTTHUMP00000016062;OTTHUMP00000016063;OTTHUMP00000221462;OTTHUMP00000221485;biogenesis of lysosomal organelles complex-1, subunit 8;biogenesis of lysosome-related organelles complex 1 subunit 8;dysbindin;dysbindin-1;hermansky-Pudlak syndrome 7 protein APPROVED protein-coding ENSG00000047579 17328 06190 181500;607145;614076 REVIEWED 1353899 DTX1 deltex homolog 1 (Drosophila) Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008] 12 12 q24.13 111980045 112020216 + 113495662 113535833 + 6480464;6484113;6907045 18628966;11564735;7671825;9590294;15489334;12753744;12670957;12617994;12477932;11869684;11153911;9244302;11226752;17028573;17474147;19690564;15684388;20208568;22589738;21139048;21124883;19592273 1840 Q86Y01 ABBA01019945;ABBA01019946;ABBA01019947;AC089999;AF053700;AMYH01004757;BC005816;BC008321;BC048216;CH471054;NM_004416 AAC06246;AAH05816;AAH48216;EAW98028;EAW98029;NP_004407;Q86Y01 Hs.372152 1758105;1762153;2109255;2126190;2179450;5491629 DTX1_8317;MARC_26600-26601:1033757626:1;RH45549;SHGC-146048;SHGC-147414;SHGC-64337 hDx-1 E3 ubiquitin-protein ligase DTX1;OTTHUMP00000241684;deltex1;hDTX1;protein deltex-1 APPROVED protein-coding ENSG00000135144 3060 03991 602582 REVIEWED 1604482 DTWD2 DTW domain containing 2 5 5 5 q23.1 114119482 114271172 - 118203135 118352139 - 118172569 118324240 - 6480464 19240061;15489334;14702039;12477932;2708378;1612591;21139048;22589738 285605 D6RBD8;D6REE2;J3KND6;Q8NBA8 ABBA01068985;ABBA01068986;ABBA01068987;ABBA01068988;ABBA01068989;AC008629;AC010462;AK091296;AK124328;AMYH01015573;AMYH01015574;BC012294;BC114508;BC114955;BX648369;CH471086;NM_173666 AAI14509;AAI14956;BAC03630;EAW48922;EAW48923;EAW48924;EAW48925;NP_775937;Q8NBA8 Hs.655891 1690061;1748715;1785254;1785310;1785750;2184927;5022651;5037552 D11S2921;D8S2279;RH80979;SHGC-104496;SHGC-110359;SHGC-111432;SHGC-82109;STS-R39822 FLJ33977;MGC138579;MGC138580 DTW domain-containing protein 2;OTTHUMP00000222970;OTTHUMP00000222971;OTTHUMP00000222972;OTTHUMP00000223087 protein-coding 19334 08168 VALIDATED 1353863 DUOX2 dual oxidase 2 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008] 15 15 q15.3 43172144 43193651 - 45384852 45406359 - 727755;734905;6480464;7240710 10806195;12110737 15972824;16111680;10601291;15062544;19144650;18765513;18281478;18177232;17684392;17374849;16651268;16608528;16478776;16322276;16134168;15677770;15591162;15561711;15210697;15150274;12824283;11822874;11762710;11753072;11514595;11443211;11032719;10737800;20511343;21321110;19339556;19759286;19789206;19952225;20056178;20346360;20381453;19913121;20531308;20628086;20826581;21148036;23296709;21704604;21565790;21714724;21915726;22523549;23225414;23362256;22336364;23457309;22592922;22814254 50506 Q59GU9;Q9NRD8 AB209010;ABBA01039190;AC091117;AF181972;AF230496;AF267981;AMYH01006615;BI045475;CH471082;NG_009447;NM_014080 AAF20055;AAF73922;AAF78954;BAD92247;EAW77288;NP_054799;Q9NRD8 Hs.71377 2109261;2126120;5015619;5037552 D11S3114;D8S2279;DUOX2_9644;SHGC-57395 LNOX2;NOXEF2;P138-TOX;TDH6;THOX2 NADH/NADPH thyroid oxidase p138-tox;NADPH oxidase/peroxidase DUOX2;NADPH thyroid oxidase 2;OTTHUMP00000162044;dual oxidase 2;dual oxidase-like domains 2;flavoprotein NADPH oxidase;large NOX 2;long NOX 2;nicotinamide adenine dinucleotide phosphate oxidase;p138 thyroid oxidase;thyroid oxidase 2 APPROVED protein-coding ENSG00000140279 13273 05997 606759;607200 REVIEWED 1347578 DTX3 deltex homolog 3 (Drosophila) DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] 12 12 12 q13.3 57654419 57659398 + 56284871 56289850 + 57998604 58003583 + 1580863;6480464;6907045 17028573;14702039;12670957;12477932;11226752;7671825;19549727;23105109;22493164 196403 F8VUZ4;F8VV96;H0YHF9;Q8N9I9 ABBA01026695;AC022506;AC025165;AK092085;AK094385;AK128752;AL831941;AMYH01004522;AY225126;BC035831;BC114441;BC114498;CH471054;NM_178502 AAI14442;AAI14499;AAP57520;BAC03801;BAC04344;BAG54727;CAD38593;EAW97032;EAW97033;EAW97034;EAW97035;NP_848597;Q8N9I9 Hs.32374 1758497;2218522 DTX3__4788;SHGC-148470 FLJ34766;MGC138863;MGC138864;RNF154 OTTHUMP00000243163;OTTHUMP00000243167;OTTHUMP00000243168;OTTHUMP00000243169;RING finger protein 154;deltex 3 homolog;deltex3;probable E3 ubiquitin-protein ligase DTX3;protein deltex-3 APPROVED protein-coding ENSG00000178498 24457 16842 613142 PROVISIONAL 1344833 DTX3L deltex 3-like (Drosophila) DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] 3 3 3 q21.1 120692995 120703860 + 123765956 123775973 + 122283185 122294050 + 737633;1580863;6480464;6907045 12477932 18618715;16809771;15489334;22411408;14702039;12670957;19818714;19549727;19471022;21139048;21890473;21906983;22472876;19322201;22493164;22505724;23230272 151636 Q8TDB6 ABBA01016467;AC092908;AF484416;AK025135;AK093782;AK125086;AL833598;AMYH01013430;AY225123;AY780792;BC016846;BC040372;BC042191;BC060509;BX648267;BX648645;CH471052;NM_138287 AAH42191;AAH60509;AAL90859;AAP57517;AAV98362;BAG54138;EAW79476;NP_612144;Q8TDB6 Hs.518201 1775078;1849067;5022200;5022588;5037552 D5S1597E;D8S2279;L18426;RH35942;WI-11383 BBAP B-lymphoma- and BAL-associated protein;E3 ubiquitin-protein ligase DTX3L;OTTHUMP00000215686;OTTHUMP00000215687;protein deltex-3-like;rhysin 2;rhysin-2;rhysin2 APPROVED protein-coding ENSG00000163840 30323 16843 613143 VALIDATED 1323395 DTX4 deltex homolog 4 (Drosophila) 11 11 11 q12.1 56298909 56335157 + 58696388 58732636 + 58939812 58976060 + 1580863;6480464;6907045 15684394;15489334;12477932;10231032;22388039 23220 Q9Y2E6 AB023154;ABBA01021496;AF086290;AMYH01003661;AP001258;AP002358;BC015592;BC119011;BC122861;BF195769;CH471076;NM_015177 AAI19012;AAI22862;BAA76781;EAW73838;NP_055992;Q9Y2E6 Hs.523696 1650464;1669563;1782492;2126450;2142767;2165849;2168384;2168386 A001W11;D11S1176;G19706;RH16197;SHGC-172592;SHGC-34178;STS-T98251;WI-20048 KIAA0937;MGC141899;RNF155 E3 ubiquitin-protein ligase DTX4;OTTHUMP00000235742;OTTHUMP00000235743;RING finger protein 155;deltex 4 homolog;deltex4;protein deltex-4 protein-coding ENSG00000110042 29151 VALIDATED 1349024 DURS1 Duane's retraction syndrome 1 7240710 7849713 10674 1339594;1339852 D8S1767;D8S533 3063 1322389 DTX2 deltex homolog 2 (Drosophila) DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] 7 7 7 q11.23 71136116 71144477 - 75928908 75973248 + 76090972 76135312 + 6480464;6907045 16189514;17286044;16713569;16400609;16344560;15489334;15342556;14702039;12853948;12670957;12477932;11564735;11226752;10819331;9847074;7671825;15778465;22990118;21987572;21139048;21890473;18029348;19549727 113878 C9IYX1;C9JEH4;C9JF39;C9JII1;C9JLU8;C9JS11;C9JVC8;C9JY61;E7ET89;H7C3B8;Q86UW9 AB040961;ABBA01001730;ABBA01016358;AC005522;AC007078;AK023924;AK026252;AK293226;AMYH01017573;AMYH01017574;AMYH01017575;AMYH01017576;AMYH01017577;AMYH01017578;AMYH01017579;AMYH01017580;AMYH01017581;AMYH01017582;AMYH01017583;AMYH01017584;AMYH01017585;AMYH01017586;AMYH01017587;AY225124;AY225125;BC008856;BC013192;BC018555;BC026059;BC064535;BC093079;BP306192;CH471325;DA003606;DA917716;DQ010329;DQ082728;DQ082730;NM_001102594;NM_001102595;NM_001102596;NM_020892 AAH08856;AAH18555;AAH26059;AAH64535;AAH93079;AAP21881;AAP57518;AAP57519;AAS07525;AAY27263;AAZ06433;AAZ06435;ABM84190;ABM87592;BAA96052;BAB14727;BAG56765;EAW50382;NP_001096064;NP_001096065;NP_001096066;NP_065943;Q86UW9 Hs.187058 1650690;1730243;1778240;2148996;2163092;5126515 AF021119;D7S538E;G09789;L17893;RH78947;STS-N23152 KIAA1528;MGC71098;RNF58 OTTHUMP00000161197;OTTHUMP00000208415;OTTHUMP00000208416;OTTHUMP00000208417;OTTHUMP00000208418;deltex2;hDTX2;probable E3 ubiquitin-protein ligase DTX2;protein deltex-2;ring finger protein 58;zinc ion binding protein APPROVED protein-coding ENSG00000091073 15973 16841 613141 VALIDATED 1351671 DURS2 Duane retraction syndrome 2 7240710 10577917 27011 13274 604356 1603235 DUOXA2 dual oxidase maturation factor 2 This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010] 15 15 15 q15.1 22297958 22301739 + 43193816 43197596 + 45406523 45410304 + 6480464;7240710 18042646;17374849;16651268;16344560;21321110;12477932;18700007;19339556;22592922;22814254 405753 Q1HG44 ABBA01039190;AC091117;AK303955;AMYH01006615;BC137465;BM987789;BX537581;CH471082;DB243076;DC393748;DQ489734;NG_009447;NG_016992;NM_207581 AAI37466;ABF48256;BAG64881;EAW77289;NP_997464;Q1HG44 Hs.497987 SIMNIPHOM;TDH5 OTTHUMP00000162043;dual oxidase maturation factor 2 APPROVED protein-coding ENSG00000140274 32698 14224 274900;612772 REVIEWED 1320047 DTYMK deoxythymidylate kinase (thymidylate kinase) 2 2 q37.3 242263830 242274900 - 242615157 242626383 - 1580863;5133686;6480464;6907045 6244089 18469;8024690;18413751;15489334;12614151;12477932;11008000;8125298;2538159;2017365;17643375;8845311;21139048;21890473 1841 B7ZW70;G5E9E9;H7BZ20;H7C312;H7C3A4;P23919;Q53F55;Q6FGU2 AA446104;ABBA01006062;AC133528;AC133781;AF258562;AK126180;AK223434;AMYH01011634;AW273041;BC001827;BC147006;BC147010;BC171894;BC171902;BC171903;BG765702;BM552707;BQ021114;CF528035;CH471063;CR541986;CR542015;CX166352;L16991;NM_001165031;NM_012145;NR_033255;X54729 AAG23765;AAH01827;AAI47007;AAI47011;AAI71902;AAY14920;BAD97154;CAA38528;CAG46783;CAG46812;EAW71282;EAW71283;EAW71284;EAW71285;EAW71286;NP_001158503;NP_036277;P23919 Hs.471873 1679521;1712244;2109257;2154406;2179274 DTYMK_3140;G54030;RH70744;RH93411;STS-L16991 CDC8;FLJ44192;MGC198617;PP3731;TMPK;TYMK OTTHUMP00000164604;OTTHUMP00000200145;OTTHUMP00000200146;dTMP kinase;thymidylate kinase protein-coding ENSG00000168393 3061 01773 188345 VALIDATED 1321010 DUPD1 dual specificity phosphatase and pro isomerase domain containing 1 10 10 10 q22.2 70085843 70106521 - 76467600 76488278 - 76797594 76818272 - 6480464 17498703;12477932;19851299 338599 Q68J44 ABBA01020266;ABBA01020267;AC018511;AMYH01002837;AY686755;BC137321;BC137322;CH471083;NM_001003892 AAI37322;AAI37323;AAT94288;EAW54560;NP_001003892;Q68J44 Hs.535090 1725405 RH119020 DUSP27;FMDSP OTTHUMP00000019871;atypical dual-specific protein phosphatase;dual specificity phosphatase 27;dual specificity phosphatase DUPD1 protein-coding ENSG00000188716 23481 16846 PROVISIONAL 1345114 DUOX1 dual oxidase 1 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012] 15 15 q15.3 43209484 43245066 + 45422192 45457774 + 727755;1580863;6480464 10806195 11514595;16111680;10601291;15062544;19144650;18606821;18281478;18177232;17337509;17135261;16608528;16478776;15972824;15677770;15640347;15561711;15489334;15210697;14702039;12824283;12482831;12477932;11822874;11762710;11753072;11443211;20682913;20709024;19339556;19460756;19730683;19952225;20056178;20085766;20346360;21411736;23225414;23349873;23362256;21389273;21915726;22523549 53905 H0YK19;H0YNR5;Q9NRD9 ABBA01039189;ABBA01039190;AC051619;AC091117;AF213465;AF230495;AK075268;AK128591;AK172859;AK290372;AL137592;AMYH01006615;BC114628;BC114938;CH471082;NM_017434;NM_175940 AAF71295;AAF73921;AAI14629;AAI14939;BAD18816;BAF83061;CAB70831;EAW77295;EAW77296;EAW77297;NP_059130;NP_787954;Q9NRD9 Hs.272813 2109259;2111172;2116924;2118857;5015961;5024039;5037552;5109281 AFM189xg5;D15S1477;D15S222;D16S325;D1S1425;D8S2279;DUOX1_9771;IB532 LNOX1;MGC138840;MGC138841;NOXEF1;THOX1 NADPH thyroid oxidase 1;dual oxidase 1;flavoprotein NADPH oxidase;large NOX 1;long NOX 1;nicotinamide adenine dinucleotide phosphate oxidase;thyroid oxidase 1 APPROVED protein-coding ENSG00000137857 3062 08421 606758 REVIEWED 1602196 DUOXA1 dual oxidase maturation factor 1 Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 15 15 15 q21.1 22301120 22313493 - 43196977 43209349 - 45409685 45422057 - 6480464 15489334;19339556;19074510;16651268;14702039;14670962;12477932;19322654;20060878;20122987;20407074;20826581;21362455;21367925;22612456;22814254;22874065;23010498;23033809;8889548 90527 A8K9Q6;B5M0B7;B5M0B8;B5M0C0;H0YKF3;H0YKG3;H0YLI1;H0YLQ4;H0YMH9;H0YMZ8;H0YNR1;Q1HG43 ABBA01039190;AC091117;AK056896;AK292771;AMYH01006615;BC020841;BC029819;BM977797;CB850544;CH471082;DQ489735;EU927394;EU927395;EU927396;EU927397;NG_033105;NM_001276264;NM_001276265;NM_001276266;NM_001276267;NM_001276268;NM_144565 AAH20841;AAH29819;ABF48257;ACH57453;ACH57454;ACH57455;ACH57456;ADZ15420;BAB71304;BAF85460;EAW77290;EAW77291;EAW77292;EAW77293;EAW77294;NP_001263193;NP_001263194;NP_001263195;NP_001263196;NP_001263197;NP_653166;Q1HG43 Hs.356664 FLJ32334;NIP;NUMBIP;mol OTTHUMP00000162041;dual oxidase activator 1;dual oxidase maturation factor 1;dual oxidase maturation factor 1 alpha;dual oxidase maturation factor 1 beta;dual oxidase maturation factor 1 delta;dual oxidase maturation factor 1 gamma;homolog of Drosophila Numb-interacting protein;numb-interacting protein protein-coding ENSG00000140254 26507 14829 612771 REVIEWED 1605962 DUS1L dihydrouridine synthase 1-like (S. cerevisiae) 17 17 17 q25.3 76609999 76617972 - 77609040 77616969 - 80015748 80023697 - 6480464 15489334;12477932 64118 F5H0Q0;H0YGW8;J3KSK2;J3KT57;J3QKP9;J3QLE4;J3QQL9;J3QQZ0;Q6P1R4 ABBA01019661;ABBA01019662;AC135056;AF202637;AK226154;AK298330;AL539521;AMYH01008728;AMYH01008729;AMYH01008730;BC003659;BC017081;BC062566;BC064918;BG709424;BM907569;CH471099;DB481578;NM_022156 AAG22491;AAH03659;AAH17081;AAH62566;AAH64918;ADR83302;BAG60579;EAW89743;EAW89744;NP_071439;Q6P1R4 Hs.514599;Hs.741994 1680543 RH98836 DUS1;PP3111 tRNA-dihydrouridine synthase 1-like;tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like protein-coding 30086 17885 VALIDATED 1603040 DUS2 dihydrouridine synthase 2 This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 16 16 16 q22.1 52565657 52621610 + 66614705 66670685 + 68057204 68113184 + 6480464 15489334;18096616;15994936;14702039;12477932;17207965;20877624;21900206;18029348;21890473;21906983;22442237;21963094;21988832;18425323;22741570 54920 B4DKP8;E7EUN9;H3BM64;H3BMK6;H3BQX4;H3BRI6;H3BSF3;H3BTR3;I3L0K0;I3L1K5;I3L4H0;I3L4Y9;J3QLD5;Q9NX74 AB101210;ABBA01025471;ABBA01025472;ABBA01025473;ABBA01025474;ABBA01025475;ABBA01025476;ABBA01025477;AC130462;AK000406;AK290578;AK296663;AMYH01007754;BC006527;CH471092;CS415678;DC397403;HB962190;HC470471;HD019600;JA237905;NM_001271762;NM_001271763;NM_017803 AAH06527;ADQ32741;BAA91143;BAE07219;BAF83267;BAG59260;CAL48157;CBG15707;CBL54451;CBV29153;CCA65343;EAW83207;EAW83208;EAW83209;NP_001258691;NP_001258692;NP_060273;Q9NX74 Hs.534460;Hs.744492 2160625 D16S3211 DUS2;FLJ20399;SMM1;URLC8 OTTHUMP00000174842;SMM1 homolog;dihydrouridine synthase 2-like, SMM1 homolog;hDUS2;tRNA-dihydrouridine synthase 2-like;tRNA-dihydrouridine(20) synthase [NAD(P)+]-like;up-regulated in lung cancer 8;up-regulated in lung cancer protein 8 APPROVED protein-coding ENSG00000167264 26014 08624 609707 REVIEWED 1604330 DUS3L dihydrouridine synthase 3-like (S. cerevisiae) 19 19 19 p13.3 5723144 5730021 - 5736151 5742192 - 5785151 5791249 - 6480464 16344560;15489334;14702039;12477932;22863883;21832049;21890473;21906983;21252943;22505724 56931 B2RDV7;K7EJX8;K7EM42;K7EPA4;K7EQU9;K7ER20;K7ERF2;Q96G46 ABBA01055991;AC011499;AF074704;AF091072;AK023958;AK225840;AK297037;AK315691;AL365411;AMYH01009366;BC004549;BC008362;BC009973;CH471139;DA839738;NM_001161619;NM_020175 AAC72941;AAH04549;AAH08362;AAH09973;ACE87050;ACE87732;ADZ15337;BAB14740;BAG38054;BAG59565;CAB96955;EAW69141;EAW69142;EAW69143;EAW69144;EAW69145;EAW69146;NP_001155091;NP_064560;Q96G46 Hs.284297 1675624 RH98517 DUS3;FLJ13896 tRNA-dihydrouridine synthase 3-like;tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like protein-coding ENSG00000141994 26920 14252 VALIDATED 1602492 DUS4L dihydrouridine synthase 4-like (S. cerevisiae) 7 7 7 q22-q31 102009704 102024239 + 106991668 107006204 + 107204402 107218968 + 6480464 15489334;12690205;12477932;8889549;14499622;16344560;20237496;21068099 11062 A4D0R5;F2Z2E4;F8WEL2;F8WFE3;O95620 AA157330;AACC02000004;ABBA01057907;AC002381;AC004839;AK127802;AK294095;AK297195;AK308472;AL523141;AL529385;AMYH01017830;AW954755;BC111774;BG250736;BQ771928;BU621752;BX357552;BX395100;CH236947;CH471070;CX787147;DA133130;DA223301;DB196544;NM_001270419;NM_181581;NR_073002;NR_073003;NR_073004;NR_073005;U62767 AAD00100;AAI11775;BAG57433;BAG59682;EAL24391;EAW83399;EAW83400;EAW83401;EAW83402;EAW83403;EAW83404;NP_001257348;NP_853559;O95620 Hs.97627 1652252;1854575;2138176;2219544;5015961;5037552 A007D21;D15S1477;D8S2279;PP35__5752;RH11946;RH12603 DUS4;MGC133233;PP35 2310069P03Rik;OTTHUMP00000206621;protein similar to E.coli yhdg and R. capsulatus nifR3;tRNA-dihydrouridine synthase 4-like;tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like protein-coding ENSG00000105865 21517 17886 VALIDATED 1321979 DUSP10 dual specificity phosphatase 10 Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAPK superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAPKs, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK, but not MAPK/ERK. Its subcellular localization is unique; it is evenly distributed in both the cytoplasm and the nucleus. This gene is widely expressed in various tissues and organs, and its expression is elevated by stress stimuli. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q41 219941389 219982084 - 221874764 221915516 - 2293881;2301725;6480464;6907045;7240533 17208316;11027531;20626350 11060451;10391943;18314537;17681939;17400920;17151092;16806267;16710414;16565220;15489334;12477932;11359773;10597297;9571625;11157753;19913121;20628086;20936779;20379614;18029348;16341674;20972440;15342556;9628821;21487011;16166642;21900206;22245064;22375048;22711061 11221 B4DDQ0;Q9Y6W6 AA431025;AB026436;ABBA01048062;AF179212;AI220242;AK022513;AK293287;AL590966;AMYH01001744;AMYH01001745;BC020608;BC031405;BC063826;BP222019;BQ000769;BQ082194;BQ223632;CH471100;CR457092;HC192022;HC192024;NM_007207;NM_144728;NM_144729 AAD51857;AAH20608;AAH31405;AAH63826;ABM86183;ABW03693;BAA81668;BAB14070;BAG56811;CAG33373;CBI69376;CBI69577;EAW93283;EAW93284;EAW93285;EAW93286;EAW93287;NP_009138;NP_653329;NP_653330;Q9Y6W6 Hs.497822;Hs.732301 1644658;1671071;1692118;1756073;2158728 AL033755;RH69568;SHGC-142873;SHGC-76391;SHGC-76392 MKP-5;MKP5 OTTHUMP00000035380;dual specificity phosphatase MKP-5;dual specificity protein phosphatase 10;map kinase phosphatase 5;mitogen-activated protein kinase phosphatase 5;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000143507 3065 12320 608867 REVIEWED 732954 DUSP1 dual specificity phosphatase 1 The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. [provided by RefSeq, Jul 2008] 5 5 q34 172127707 172130809 - 172195093 172198203 - 1580863;2293881;2298672;2298690;2298693;2298673;2298676;2298697;2298698;2298678;2301725;2298677;2298694;633769;2298695;6480464;6907045;7240533 17208316;17647144;8883936;7485483;16814733;15242861;9724088;9010448;9231829;11027531;11758828;17690186;8587253;12432554;20626350 1406996;16286470;19417026;19262425;19032224;19020052;18782768;18726921;18723442;18519678;18490444;18477563;18441094;18434324;18403641;18367666;18314542;18178562;18095520;18089824;18003751;17848570;17761948;17681939;17638884;17489738;17131384;17073741;16951204;16387640;16293973;16289033;16224818;16081065;16044158;15677475;15614136;15590693;15569826;15489334;15448190;15339908;15247770;15173070;15059515;14724291;14702039;14680833;14551204;12960255;12947325;12890671;12765304;12506119;12477932;12391149;12356755;12080474;11278799;11062068;10617468;9599409;9571625;8390041;8389479;8221888;8168826;8106404;7806236;7535770;11359773;22610099;19117950;20353815;20708668;19913121;20145951;20628086;20673984;20689807;19411256;19553005;19604093;19648110;19697705;19724859;19755862;19793766;19797979;19940143;20043958;20089808;20100830;20228065;20936779;20375469;20805296;20953200;20890299;12676937;21060794;21715333;20868379;20803086;20555314;20829434;23097457;21454676;21610072;10022904;21507959;21547253;21803700;21959016;22014408;21733716;21840882;21906983;21960346;21987572;22301548;22020934;22200679;22924482;21963094;21988832;23169297;22991462;23030431;22505724;22797925;22743041;23149933 1843 B4DU40;P28562 AA843403;ABBA01044039;AC022217;AK298047;AK298658;AK299391;AK300487;AK304475;AK316321;AMYH01015818;BC022463;CH471062;CS300525;DQ301957;FJ695205;HI574182;NM_004417;U01669;X68277 AAH22463;ABB96250;BAG60344;BAG60826;BAG61376;BAG62202;BAG65288;BAH14692;CAA48338;CAK32189;CBX47580;EAW61425;EAW61426;NP_004408;P28562 Hs.171695 1743709;1795712;2125967;2136629;2157452;5022036 DUSP1_317;DUSP4;G06586;GDB:371394;UniSTS:30977;WI-22759 CL100;HVH1;MKP-1;MKP1;PTPN10 MAP kinase phosphatase 1;OTTHUMP00000216442;dual specificity protein phosphatase 1;dual specificity protein phosphatase hVH1;mitogen-activated protein kinase phosphatase 1;protein tyrosine phosphatase, non-receptor type 16;protein-tyrosine phosphatase CL100;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000120129 3064 02835 600714 REVIEWED 1315996 DUSP11 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008] 2 2 2 p13.1 73840186 73858141 - 73842837 73860732 - 73989325 74007284 - 1580863;6480464 9685386;15635413;15489334;15342556;12477932;10347225;16169070;20383145;19120688;20811636;21931564;19322201;21890473;22505724 8446 C9JGC8;C9JYA6;H7C0E6;O75319 ABBA01075585;AC092653;AF023917;AK315271;AMYH01010440;BC000346;BP349009;BP359552;CH471053;CR627368;NM_003584 AAC39925;AAH00346;ABM82282;ABM85463;BAG37685;CAH10467;EAW99718;EAW99719;NP_003575;O75319 Hs.14611 1654758;1666734;1699172;1718633;1795708;2136823 DUSP11_1250;RH103166;RH123002;RH65653;RH65821;STS-AA037694 PIR1 OTTHUMP00000160248;RNA/RNP complex-1-interacting phosphatase;RNA/RNP complex-interacting phosphatase;dual specificity protein phosphatase 11;phosphatase that interacts with RNA/RNP complex 1;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000144048 3066 04368 603092 REVIEWED 731810 DUSP12 dual specificity phosphatase 12 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008] 1 1 q21-q22 159986205 159993576 + 161719581 161726952 + 1580863;6480464 18029348;19567874;20103624;19087671;18973475;10446167;18269685;16936214;16710414;16189514;15489334;12477932;8670865;16169070;21211013;21832049;21556130;21521943;21900206 11266 Q9UNI6 ABBA01047314;ABBA01047315;AF119226;AK000259;AL359541;AMYH01001463;BC006286;BT006633;CH471067;NM_007240 AAD51134;AAH06286;AAP35279;ABM83692;ABM87010;EAW90692;NP_009171;Q9UNI6 Hs.416216 1646569;2151673;2217276 DUSP12_2953;RH69474;SGC30714 DUSP1;YVH1 OTTHUMP00000032494;YVH1 protein-tyrosine phosphatase ortholog;dual specificity protein phosphatase 12;dual specificity tyrosine phosphatase YVH1;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000081721 3067 05323 604835 REVIEWED 1344710 DUSP13 dual specificity phosphatase 13 Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 70142445 70157225 - 76524196 76538976 - 76854190 76868970 - 1580863;6480464 10585869;17044055;16189514;15761153;15489334;15252030;15164054;14702039;12477932;16385451;21360282 51207 E9PSD4;F2Z2C4;Q6B8I1;Q96GC2 AB027004;AB103375;ABBA01020265;ABBA01020266;AI971328;AK057012;AK127886;AK291891;AK291897;AK300679;AL392111;AMYH01002837;AY040091;AY674051;BC009778;BU580940;CH471083;CR457094;NM_001007271;NM_001007272;NM_001007273;NM_016364 AAH09778;AAK77966;AAT79356;ABM83658;ABM86905;BAA89412;BAD91014;BAF84580;BAF84586;BAG51843;BAG54592;BAG62362;CAG33375;EAW54561;EAW54562;EAW54563;EAW54564;NP_001007272;NP_001007273;NP_001007274;NP_057448;Q6B8I1;Q9UII6 Hs.178170 1689438;1775445;1850937 RH94133;SHGC-3139;SHGC-57611 BEDP;DUSP13A;DUSP13B;FLJ32450;MDSP;SKRP4;TMDP OTTHUMP00000019875;OTTHUMP00000233098;OTTHUMP00000239701;OTTHUMP00000239702;branching-enzyme interacting DSP;branching-enzyme interacting dual-specificity protein phosphatase;dual specificity phosphatase SKRP4;dual specificity protein phosphatase 13;dual specificity protein phosphatase 13 isoform MDSP;dual-specificity phosphatase SKRP4;muscle-restricted DSP;testis- and skeletal-muscle-specific DSP APPROVED protein-coding ENSG00000079393 19681 13251 613191 REVIEWED 1314347 DUSP15 dual specificity phosphatase 15 The protein encoded by this gene belongs to the non-receptor class of the protein-tyrosine phosphatase family. The encoded protein has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27205216 27214821 - 29912531 29922140 - 30448870 30458479 - 1580863;6480464 15138252;17474147;16170801;15489334;19322201;14702039;12477932;11780052;10737800;17207965;21139048;22792334 128853 H0Y5A2;Q5QP64;Q9BX24 ABBA01019288;ABBA01019289;AI051640;AK091960;AL160175;AL732169;AMYH01011831;BC056911;BF377396;BI517878;BI560652;BI562598;BI829823;CH471077;NM_001012644;NM_080611;NM_177991 AAH56911;ADQ32528;BAG52450;EAW76409;EAW76410;NP_001012662;NP_542178;NP_817130;Q9H1R2 Hs.585017 1682938 RH98432 FLJ40111;VHY OTTHUMP00000030536;OTTHUMP00000030539;OTTHUMP00000214529;OTTHUMP00000214530;VH1-related member Y;dual specificity phosphatase-like 15;dual specificity protein phosphatase 15;vaccinia virus VH1-related dual-specific protein phosphatase Y 2316046 GLUCO192_H APPROVED protein-coding ENSG00000149599 16236 13252 REVIEWED 1316598 DUSP14 dual specificity phosphatase 14 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP14 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 17 17 17 q12 32672947 32696576 + 32924064 32947701 + 35849951 35873588 + 1580863;6480464;6907045 18201568;17178844;15489334;12477932;11123293;20694014;19228121;19770498;21800051;21139048;21890473;21906983;22233810;23229544;21963094;21988832;23000965;23535730 11072 O95147;Q6FI36 ABBA01001363;ABBA01001364;AC004099;AF038844;AF120032;AK027210;AK314894;AMYH01008361;BC000370;BC001894;BC004448;CH471199;CR536500;CR541800;NM_007026 AAD02105;AAF28861;AAH00370;AAH01894;AAH04448;ABM82305;ABM85482;ABW03434;BAG37408;CAG38739;CAG46599;EAW57592;EAW57593;NP_008957;O95147 Hs.91448 1767200;1767202;2132736;2161152;5017469 A005V20;D17S1362E;D17S1660;Dusp14;G20534 MKP-L;MKP6 MAP kinase phosphatase 6;MKP-1 like protein tyrosine phosphatase;MKP-1-like protein tyrosine phosphatase;MKP-6;OTTHUMP00000164064;OTTHUMP00000164065;dual specificity protein phosphatase 14;mitogen-activated protein kinase phosphatase 6 APPROVED protein-coding ENSG00000161326 17007 09427 606618 VALIDATED 1315821 DUSP18 dual specificity phosphatase 18 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 22 22 22 q12.2 14858124 14863957 - 29388039 29393872 - 31058039 31063872 - 1580863;6480464 16720344;16699184;15489334;15461802;14702039;12591617;12477932;12408986;19228121 150290 C9JEE9;F2Z2P2;F8VX42;H7C401;Q8NEJ0 ABBA01055304;AC003072;AF461689;AF533017;AI699242;AK025036;AK056074;AMYH01012709;BC004110;BC028724;BC030987;CH471095;CR456406;NM_152511 AAH30987;AAN59787;AAN77931;BAG51616;CAG30292;CAK54395;CAK54694;EAW59913;EAW59914;EAW59915;NP_689724;Q8NEJ0 Hs.517544 1795710 DUSP18_1482 DSP18;DUSP20;LMWDSP20;MGC32658;bK963H5.1 LMW-DSP20;OTTHUMP00000199179;OTTHUMP00000199181;OTTHUMP00000199182;OTTHUMP00000199183;OTTHUMP00000199204;OTTHUMP00000199205;OTTHUMP00000199206;OTTHUMP00000199207;dual specificity protein phosphatase 18;low molecular weight dual specificity phosphatase 20 APPROVED protein-coding ENSG00000167065 18484 13253 611446 VALIDATED 1321793 DUSP16 dual specificity phosphatase 16 This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010] 12 12 p13 12520098 12606584 - 12626216 12715448 - 1580863;2293881;6480464;6907045;7240533 17208316;20626350 22182512;11489891;19307591;15888437;15689616;15489334;14702039;14586399;12794087;12524447;12477932;11359773;11214970;16344560;19228121;20122898;20379614;20551953;20936779;23077088;22245064;23128233 80824 F5H5X4;Q96QS2;Q9BY84 AB051487;AB052156;ABBA01067843;AC007619;AC092824;AF506796;AK022103;AK055973;AK093617;AK098310;AL137633;AMYH01004291;AY038927;BC031643;BC042101;BC109234;BC109235;CH471094;DB094627;NG_021402;NM_030640 AAH31643;AAH42101;AAI09235;AAI09236;AAK69770;AAN75120;BAB21791;BAB40814;BAB71060;EAW96262;EAW96263;EAW96264;NP_085143;Q9BY84 Hs.536535 1341320;1678901;1678971;1725963;1726003;1770427;1782796;1797486;1848670;1851097;2141339;2145629;2155313;2160041;2160043;2161381;7184014 A005C29;A009A32;D12S1217E;D12S358;DUSP16_2046;G20275;G41291;G41293;G62270;G62398;RH65799;RH76656;RH99168;SHGC-83859;STS-F10818;WI-11609 FLJ36298;FLJ40991;KIAA1700;MGC129701;MGC129702;MKP-7;MKP7 MAP kinase phosphatase 7;MAPK phosphatase-7;OTTHUMP00000239080;dual specificity protein phosphatase 16;mitogen-activated protein kinase phosphatase 7 APPROVED protein-coding 17909 09525 607175 REVIEWED 1316661 DUSP19 dual specificity phosphatase 19 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 2 2 2 q32.1 177539400 177560844 + 183651732 183672981 + 183943287 183964736 + 1580863;2314491;6480464 11959862 11959861;15815621;15489334;14702039;12479873;12477932;19228121;21989941;19322201 142679 Q8WTR2 AB038770;AB063186;AB063187;ABBA01062310;ABBA01062311;AC064871;AF486808;AK094800;AK125657;AK314078;AMYH01011320;BC035000;BC093958;BC112005;BC143337;BX647818;CH471058;NM_001142314;NM_080876 AAH35000;AAH93958;AAI12006;AAO49450;AAY24197;ABM82132;ABM85315;BAB82499;BAB83498;BAB83499;BAG36776;EAX10949;EAX10950;EAX10951;NP_001135786;NP_543152;Q8WTR2 Hs.132237 1676081;5020881;5022450 D10S275;L17709;RH92337 DUSP17;LMWDSP3;MGC138210;SKRP1;TS-DSP1 LMW-DSP3;OTTHUMP00000163459;OTTHUMP00000205371;SAPK pathway-regulating phosphatase 1;dual specificity phosphatase TS-DSP1;dual specificity protein phosphatase 19;low molecular weight dual specificity phosphatase 3;protein phosphatase SKRP1;stress-activated protein kinase pathway-regulating phosphatase 1 APPROVED protein-coding ENSG00000162999 18894 13254 611437 VALIDATED 1314060 DUSP2 dual specificity phosphatase 2 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008] 2 2 q11 96172638 96174906 - 96808908 96811179 - 1580863;6480464;6907045 7535770;7681221;8107850;18600034;18178562;17827388;17471234;16288922;15489334;14680939;12826159;12673251;12575935;12477932;7806236;7590752;19913121;20628086;19797078;21490398;21984126;20723301;21906983;21987572;22505724 1844 Q05923;Q8WXV0 ABBA01036596;AC012307;AF331843;AMYH01010721;BC007771;CH471207;DB475178;L11329;NM_004418;U23853 AAA50779;AAA86112;AAH07771;AAL57044;AAY24222;ACE87048;ACE87730;EAW71384;EAW71385;EAW71386;EAW71387;EAW71388;NP_004409;Q05923 Hs.1183 1678225;1794658 PMC343947P2;RH75846 PAC-1;PAC1 OTTHUMP00000161013;dual specificity protein phosphatase 2;dual specificity protein phosphatase PAC-1;dual-specificity phosphatase 2;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000158050 3068 04348 603068 REVIEWED 1343692 DUSP21 dual specificity phosphatase 21 This gene encodes a member of the dual specificity phosphatase family, specifically the low molecular weight dual specificity phosphatase family. The encoded protein localizes to both the cytoplasm and the nucleus and functions to remove phosphate groups from phosphotyrosine and phosphothreonine residues.[provided by RefSeq, Mar 2009] X X X p11.4-p11.23 48840019 48840904 + 44588194 44589078 + 44703249 44704134 + 6480464 12408986;15772651;15489334;12477932;21832049;21900206 63904 Q9H596 AA813372;ABBA01046304;AF143321;AF533018;AL133545;AMYH01022242;AY121807;AY156515;BC119755;BC119756;CH471141;CR457159;NG_013231;NM_022076 AAD33910;AAI19756;AAI19757;AAM82755;AAN59788;AAO17295;CAG33440;EAW59369;NP_071359;Q9H596 Hs.534478 1797488;2172831;2176259 DUSP21_1846;RH16599;SHGC-33596 LMWDSP21;MGC149878 BJ-HCC-26 tumor antigen;LMW-DSP21;OTTHUMP00000023174;dual specificity protein phosphatase 21;low molecular weight dual specificity phosphatase 21 APPROVED protein-coding ENSG00000189037 20476 06494 300678 REVIEWED 1604602 DUSP26 dual specificity phosphatase 26 (putative) 8 8 8 p12 32398523 32407113 - 33568393 33576981 - 33448851 33457439 - 6480464 19043453;16924234;16581800;15796912;14702039;12477932;23298255;20562916;20877624;17001450;20347885;17207965 78986 E5RHD0;Q9BV47 AB103376;AB158288;AB237597;ABBA01023606;ABBA01023607;ABBA01023608;AC013603;AK055704;AMYH01018634;AY902194;BC001613;BC003115;BC067804;CH471080;NM_024025 AAH01613;AAH03115;AAH67804;AAX07132;ADQ31661;BAB70991;BAD82942;BAD91015;BAE46506;EAW63392;EAW63393;EAW63394;NP_076930;Q9BV47 Hs.8719 1769271;2131197 RH15975;RH36053 DUSP24;LDP-4;MGC1136;MGC2627;MKP8;NATA1;SKRP3 DSP-4;MAP kinase phosphatase 8;MKP-8;Novel amplified gene in thyroid anaplastic cancer;OTTHUMP00000225470;OTTHUMP00000225530;dual specificity phosphatase SKRP3;dual specificity protein phosphatase 26;dual-specificity phosphatase SKRP3;low-molecular-mass dual-specificity phosphatase 4;mitogen-activated protein kinase phosphatase 8 protein-coding ENSG00000133878 28161 14421 PROVISIONAL 1605823 DUSP28 dual specificity phosphatase 28 2 2 2 q37.3 235171673 235175633 + 241148144 241152104 + 241499471 241503431 + 6480464 12477932;19322201 285193 H7C234;Q4G0W2 ABBA01048873;AC124862;AMYH01011622;BC036198;BG656420;BQ777661;CH471063;NM_001033575 AAH36198;EAW71192;NP_001028747;Q4G0W2 Hs.369297 1781322;2140175;5015861;5017170;5022578;5022651;5037552;7185938 D10S16;D11S2921;D1S1423;D8S2279;G31178;L29953;RH70105 DUSP26;VHP OTTHUMP00000201460;OTTHUMP00000201461;dual specificity phosphatase 28 protein-coding ENSG00000188542 33237 18773 VALIDATED 1603599 DUSP27 dual specificity phosphatase 27 (putative) 1 1 1 q22-q24 140169211 140203525 + 165330711 165365026 + 167064087 167098402 + 6480464 14702039;12477932;19536175;20379614;20520587;21543850 92235 Q5VZP5 ABBA01047252;ABBA01047253;AF119045;AK094814;AL158837;AMYH01001480;BC115387;NM_001080426 AAI15388;AAK02011;NP_001073895;Q5VZP5 Hs.632462 1687369 RH92674 OTTHUMP00000032345;inactive dual specificity phosphatase 27 protein-coding ENSG00000198842 25034 PROVISIONAL 7083547 DUSP5P2 dual specificity phosphatase 5 pseudogene 2 3 p25.3 9643378 9644409 + 643459 ABBA01020406;AC026194;AMYH01012964;NG_022237 1788694;2112700;2112716 D3S4410;D3S4420;RH135806 pseudo 44482 INFERRED 1316166 DUSP22 dual specificity phosphatase 22 6 6 p25.3 237101 296355 + 292101 351355 + 1580863;6480464;6907045 9205128;17384676;17068812;15489334;15252450;15138252;14702039;14574404;12477932;12138158;11733513;11717427;11346645;20018849;21030553;22796920;16636663;21139048;21988832;23000965;23337887 56940 H7C0Y4;Q9NRW4 AB208997;ABBA01048669;ABBA01172973;AF165519;AF424702;AK000383;AK074410;AK128760;AK296402;AK310653;AL365272;AMYH01016012;AY249859;BC009209;BC016844;BC022847;BX648953;CH878723;DQ786251;NM_020185 AAF86649;AAH16844;AAH22847;AAL18850;AAP76376;ABM84319;ABM87714;BAD92234;BAG59068;EAW53895;NP_064570;Q9NRW4 Hs.29106 1655464;1680735;1760501;2217278 DUSP22_3037;RH66847;RH79882;SHGC-143473 FLJ35864;JKAP;JSP1;LMWDSP2;MKPX;VHX JNK-stimulating phosphatase 1;JNK-stimulatory phosphatase-1;JSP-1;LMW-DSP2;MAP kinase phosphatase x;MKP-x;OTTHUMP00000015938;dual specificity protein phosphatase 22;homolog of mouse dual specificity phosphatase LMW-DSP2;low molecular weight dual specificity phosphatase 2;mitogen-activated protein kinase phosphatase x protein-coding 16077 13255 PROVISIONAL 1602255 DUSP5P1 dual specificity phosphatase 5 pseudogene 1 1 1 1 q42.13 202050331 202055658 + 226847280 226854782 + 228780657 228788159 + 14702039 574029 Q96N51 ABBA01013454;AK055963;AK092260;AL713899;AMYH01001804;NR_002834 BAB71058;BAC03838 Hs.647777;Hs.719678 DUSP5P;FLJ31401;FLJ34941;RP4-621O15.2 APPROVED pseudo 32020 PROVISIONAL 1319412 DUSP23 dual specificity phosphatase 23 1 1 1 q23.2 132819186 132820760 + 158017383 158018957 + 159750759 159752333 + 1580863;6480464 16710414;15489334;15281913;15201283;15147733;14702039;12477932;16169070;20453000;20509867;19913121;20628086;18029348;20855292;21900206;21787189;22939635 54935 Q9BVJ7 AB164404;ABBA01016618;AF086553;AK000449;AL590560;AMYH01001448;BC001140;CH471121;NM_017823 AAH01140;ADZ16063;BAA91172;BAD12141;EAW52775;NP_060293;Q9BVJ7 Hs.425801 DUSP25;FLJ20442;LDP-3;MOSP;RP11-190A12.1;VHZ OTTHUMP00000024412;OTTHUMP00000024413;OTTHUMP00000033306;VH1-like member Z;VH1-like phosphatase Z;dual specificity protein phosphatase 23;low molecular mass dual specificity phosphatase 3;low-molecular-mass dual-specificity phosphatase 3 protein-coding ENSG00000158716 21480 07908 VALIDATED 1350641 DUSP8P dual specificity phosphatase 8 pseudogene 9192849 1851 XM_291738 3075 7206878 DUSP8P2 dual specificity phosphatase 8 pseudogene 2 10 q11.22 48173345 48175106 - 728725 AMYH01002428;BX547991;NG_022145 pseudo 45001 INFERRED 1351513 DUSP8P3 dual specificity phosphatase 8 pseudogene 3 10 10 q11.22 46193069 46195217 + 46773447 46775208 + 7806236;7806236 441554 AL603982;NG_022173 DUSPP;HVH4 APPROVED pseudo 3077 INFERRED 7206951 DUSP8P4 dual specificity phosphatase 8 pseudogene 4 10 q11.22 47254247 47256008 + 728657 AL391137;NG_022174 pseudo 45002 INFERRED 1348525 DUSP4 dual specificity phosphatase 4 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008] 8 8 p12-p11 29249530 29264104 - 29190579 29208267 - 1580863;2301725;6480464;6907045 11027531 11062068;22434910;17322878;7535768;18178562;17452331;17145763;16038800;15489334;12477932;11387337;10862698;9205128;8889548;8626452;8545112;19415758;19525976;19843478;20124482;20860659;20339536;15276183;20725992;16344560;21084841;21832049;23048029;21900206;21906983;23223570;22430215;21963094;22965873 1846 Q13115 ABBA01005616;AC084262;AI123616;AK314820;AL137704;AMYH01018610;BC002671;BC012900;BC014565;BG760517;BU742141;CH471080;DA645190;NM_001394;NM_057158;S80632;U21108;U48807 AAA85119;AAB35870;AAC50452;AAH02671;AAH14565;ACE86469;ACE87150;BAG37342;EAW63481;EAW63482;EAW63483;EAW63484;NP_001385;NP_476499;Q13115 Hs.417962 1647121;1735816;2150860;2155886;2164769;2185295;2217280 A004W39;D8S1424E;DUSP4_590.2;RH18016;RH36102;SGC35388;WI-22140 HVH2;MKP-2;MKP2;TYP MAP kinase phosphatase 2;OTTHUMP00000164576;OTTHUMP00000164577;VH1 homologous phosphatase 2;dual specificity protein phosphatase 4;dual specificity protein phosphatase hVH2;mitogen-activated protein kinase phosphatase 2;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000120875 3070 04123 602747 REVIEWED 1345576 DUSP5 dual specificity phosphatase 5 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008] 10 10 q25 112247615 112261292 + 112257625 112271302 + 1580863;2317872;2317873;6480464;6907045 16940436;12503083 7961985;18927432;18430737;17131384;17078075;15713638;15489334;12944906;12477932;7836374;7829101;7806236;19913121;20628086;20628624;20806045;16385451;19801501;20554528;19666109;21906983;19322201;22812510 1847 Q16690;Q59EI8 AB209823;ABBA01063028;ABBA01063029;AL355512;AMYH01003062;BC062545;BF979291;BI495660;CB991409;CH471066;NM_004419;U15932;U16996 AAA64693;AAB06261;AAH62545;ACE86455;ACE87136;BAD93060;EAW49559;EAW49560;NP_004410;Q16690 Hs.2128 1643744;1658607;1781072;1795716;2167199;2177284;2191301 D10S2186;DUSP5_592;MARC_17213-17214:1023894705:1;RH68124;SGC30304;STS-U15932;bac5980S DUSP;HVH3 OTTHUMP00000020476;VH1-like phosphatase 3;dual specificity protein phosphatase 5;dual specificity protein phosphatase hVH3;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000138166 3071 04349 603069 REVIEWED 5131596 DUTP1 deoxyuridine triphosphatase pseudogene 1 3 q21.2 125029742 125030188 + 548637 ABBA01016425;AC108688;AMYH01013441;NG_028739 DUTL pseudo 31956 INFERRED 6481453 DUTP2 deoxyuridine triphosphatase pseudogene 2 8 124364547 124364885 + 100873909 ABBA01037873;AC021305;AMYH01019004;NG_032312 pseudo 39515 INFERRED 1345861 DUSP3 dual specificity phosphatase 3 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008] 17 17 q21 39199015 39211872 - 41843489 41856368 - 1580863;6480464;6907045 17322878;1281549;19010898;18505570;18311544;17785772;17278098;16604064;16344560;15489334;14702039;12840032;12477932;12447358;11238845;11085983;10224087;8650541;7874108;7829094;7829067;19322201;11863439;7876121;7961745;15276183;21262974;21832049;21921027;21890473;21906983;21988832;23000965;23322772;22053931 1845 K7ELG5;K7EPK5;K7ES89;P51452;Q8IYJ9 AB451424;ABBA01028400;AC003098;AC055813;AK055834;AK129822;AK226170;AL049417;AMYH01008409;BC002682;BC008286;BC035701;BQ575811;BQ652984;BT019522;BU177084;CH471178;DA075379;DA104250;DA167802;DB171573;L05147;NM_004090 AAA35777;AAH02682;AAH35701;AAV38329;ABM84048;ABM87398;BAG70238;EAW51667;EAW51668;NP_004081;P51452 Hs.181046 1657783;1730249;1748533;1768211;1795714;1855870;2130498;2132457;2137437;2149273;2163427;2181807;5110958;7186007 A006E16;D17S1216;D17S814E;DUSP3_588;HUM000S655;HUM0C12C02;RH48877;RH78942;SGC30031;SGC30297;SHGC-2457;STS-N24113;STS-N67742 VHR dual specificity protein phosphatase 3;dual specificity protein phosphatase VHR;serine/threonine specific protein phosphatase;vaccinia H1-related phosphatase;vaccinia virus phosphatase VH1-related APPROVED protein-coding ENSG00000108861 3069 02553 600183 REVIEWED 6481457 DUTP4 deoxyuridine triphosphatase pseudogene 4 X 148898834 148899310 + 100873910 ABBA01027307;AC232272;AC244098;AMYH01023210;NG_032313 pseudo 39517 INFERRED 6481456 DUTP5 deoxyuridine triphosphatase pseudogene 5 6 86136372 86136856 - 100873911 ABBA01040476;AL135903;AMYH01016480;NG_032314 pseudo 39518 INFERRED 5686985 DUTP3 deoxyuridine triphosphatase pseudogene 3 7 q35 146843364 146843852 + 12853948 100861485 AACC02000041;ABBA01033580;AC092676;AMYH01018108;NG_032032 pseudo 39516 INFERRED 6481458 DUTP6 deoxyuridine triphosphatase pseudogene 6 1 166837971 166838444 + 100873912 ABBA01047257;AL008639;AMYH01001479;NG_032315 pseudo 39519 INFERRED 6481460 DUTP7 deoxyuridine triphosphatase pseudogene 7 4 52731219 52731701 - 100873913 ABBA01003373;AC027271;AMYH01014173;NG_032316 pseudo 39520 INFERRED 6481381 DUTP8 deoxyuridine triphosphatase pseudogene 8 4 98969706 98970191 + 100873914 ABBA01063650;AC073855;AMYH01014414;NG_032317 pseudo 39521 INFERRED 1350752 DUSP7 dual specificity phosphatase 7 Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009] 3 3 p21 52059799 52065329 - 52082935 52090461 - 728656;1580863;6480464;6907045 8626780 12477932;12907755;8670865;17322878;15489334;15146197;15081539;14674243;14603440;14576828;9788880;9205128;19228121;15276183;21900206;21906983;19322201 1849 H7C4Z0;Q16829 ABBA01024515;AC115284;AF508727;AF508728;AL110157;AMYH01013181;BC019107;BC104880;BC104882;BC128064;CH471055;CN429806;DN999200;NM_001947;X93921 AAH19107;AAI04881;AAI04883;AAM77606;CAA63814;EAW65184;NP_001938;Q16829 Hs.591664 2108039;2163384;2163386;2170288 A001V12;DUSP7_7785;G19679;RH11772 DKFZp586F2224;MKPX;PYST2 OTTHUMP00000212488;dual specificity protein phosphatase 7;dual specificity protein phosphatase PYST2;dual-specificity phosphatase-7 APPROVED protein-coding ENSG00000164086 3073 04125 602749 VALIDATED 1350894 DUX2 double homeobox 2 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX2, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 4 q35.2 190988867 190990406 + 1580863 11245978;9736770;10433963;17668377;17984056;7739628 26583 O75505 AC126281;AF068744;NM_012147;U85056 AAC31481;NP_036279;O75505 double homeobox protein 2;double homeobox, 2;putative double homeobox protein 2 APPROVED protein-coding 3080 18589 611442 VALIDATED 1348066 DUX3 double homeobox 3 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX3, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 11245978 26582 Q96PT4 AF133130;NM_012148 AAD33597;AAI52799;AAL02242;NP_036280;Q96PT4 double homeobox, 3;putative double homeobox protein 3 APPROVED protein-coding 3081 18588 611443 PROVISIONAL 1606352 DUX4C double homeobox 4c 4 q35.2 191177249 191180814 - 6480464 10433963;7987304;7903581;7490072 554045 Q13060;Q14546;Q6RFH8 AF146191;AY500824;L32607;NM_001023569;NM_001099853;U18977 AAA83546;AAA87408;AAS15569;NP_001018863;NP_001093323;Q13060;Q14546;Q6RFH8 protein-coding 18689 1315032 DUSP8 dual specificity phosphatase 8 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 1612536 1630385 - 1531857 1549726 - 1575281 1593150 - 1580863;2293881;6480464;6907045 17208316 7561881;13129832;12477932;15899389;9192849;8889548;14702039;17081983;21900206;22100391 1850 Q13202 ABBA01012147;ABBA01012148;ABBA01012149;AK124467;AK124948;AMYH01003308;AMYH01003309;AP006285;BC038231;BC045110;BU740880;CH471158;NM_004420;U27193 AAA83151;AAH38231;AAH45110;BAC85857;BAC86004;EAX02451;EAX02452;NP_004411;Q13202 Hs.41688 5019186;5124715 RH103770;RH70588 C11orf81;FLJ42476;FLJ42958;HB5;HVH-5;HVH8 H1 phosphatase, vaccinia virus homolog;OTTHUMP00000164487;dual specificity protein phosphatase 8;dual specificity protein phosphatase hVH-5;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000184545 3074 03617 602038 REVIEWED 1348612 DUX1 double homeobox 1 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 10 135340268 135341873 + 1580863 9736770;15709750;11245978 26584 O43812;Q96PT3 ABBA01005161;AJ001481;AJ001636;NM_012146 AAI56918;CAA04776;NP_036278;O43812 Hs.274469 double homeobox protein 1;double homeobox, 1 APPROVED protein-coding 3079 10609 611441 PROVISIONAL 1344048 DUX4 double homeobox 4 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro expression experiments indicate that the ORF is transcribed. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, May 2013] 4 4 q35 191239248 191240864 + 191005267 191006883 + 1580863;6480464 19404400;19359275;18833193;17984056;17668377;17588759;15709750;11245978;10433963;7739628;19756142;19829708;19837261;19837262;20724583;21060811;21529284;22053214;22536400;22209328;20301616;12606045;16086272;21110847;21288772;21446026;21984394;22072439;22508491;22796148;22798623;23108159;23143600;23196547;23206257;23272181;23284062;23560660;23593020;22522912 22947 F5GZ66;Q9UBX2 AC126281;AMYH01023945;AY044051;D38024;HM190171;NG_027707;NM_033178;XM_003960844 AAI60122;AAK91509;ADK24700;BAA07227;NP_149418;Q9UBX2;XP_003960893 DUX10 OTTHUMP00000220042;double homeobox protein 10;double homeobox protein 4;double homeobox protein 4/10;double homeobox protein DUX10;double homeobox, 4 APPROVED protein-coding ENSG00000258389 3082 16189 606009 REVIEWED 4109138 DUX4L13 double homeobox 4 like 13 10 q26.3 135490272 135491883 + 100289581 ABBA01007242;AL732375;NG_012773 pseudo 38672 INFERRED 4109168 DUX4L14 double homeobox 4 like 14 10 10 q26.3 135343579 135345183 + 135493580 135495193 + 10433963;19359275 728022 AL732375;FJ439133;NG_012778 ACN62209;ACP30487;ACP30488 pseudo 38673 INFERRED 4109167 DUX4L16 double homeobox 4 like 16 Y Y q11.21 11921792 11923759 + 13462303 13463895 + 15653831 728169 ABBA01018575;AC134882;NG_021937 DUXY1 pseudo 37719 INFERRED 4109086 DUX4L11 double homeobox 4 like 11 10 10 q26.3 135333661 135335265 + 135483662 135485275 + 399839 ABBA01039632;ABBA01039633;AL732375;AMYH01003245;NG_012779 pseudo 38687 INFERRED 4108603 DUX4L15 double homeobox 4 like 15 10 10 q26.3 135346877 135348482 + 135496881 135498492 + 19359275;10433963;21060811 440017 AL732375;NG_012777 pseudo 38674 INFERRED 4108613 DUX4L10 double homeobox 4 like 10 10 10 q26.3 135330351 135331955 + 135480352 135481965 + 440013 ABBA01015819;AL732375;AMYH01025170;NG_012775 DUX10 pseudo 31354 INFERRED 4108608 DUX4L12 double homeobox 4 like 12 10 10 q26.3 135336970 135338574 + 135486971 135488584 + 440014 AL732375;AMYH01023436;NG_012776 pseudo 38671 INFERRED 4108602 DUX4L17 double homeobox 4 like 17 Y Y q11.21 11930597 11931979 + 13470327 13471902 + 6480464 15653831;9847074 643001 ABBA01032187;AC134882;NG_028177 DUXY3 pseudo 37717 INFERRED 4109143 DUX4L2 double homeobox 4 like 2 4 4 q35.2 191245847 191247457 + 191011866 191013476 + 10433963;17588759;17668377;7739628;19359275;11245978;17984056 728410 F5GZ66;G3V309;P0CJ85 AC126281;AMYH01024186;NM_001127386;XM_003960846 NP_001120858;P0CJ85;XP_003960895 Hs.714689 DUX4 OTTHUMP00000220041;double homeobox protein 4-like protein 2;double homeobox, 4-like protein-coding ENSG00000259128 37267 VALIDATED 4109008 DUX4L18 double homeobox 4 like 18 Y Y q11.21 11937234 11938502 + 13476954 13478540 + 15653831;9847074 100132421 ABBA01032188;AC134882;NG_029032 DUXY2 pseudo 37716 INFERRED 4108601 DUX4L19 double homeobox 4 like 19 Y Y q11.21 11948007 11949275 + 13487714 13489313 + 15653831;9847074 643034 AC134882;AMYH01024647;NG_029033 DUXY4 pseudo 37718 INFERRED 731297 DUSP6 dual specificity phosphatase 6 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q22-q23 88265968 88270427 - 89741837 89746296 - 728656;1580863;2293881;2316089;2316092;6480464;6907045 8626780;17208316;15496935;10908038 8670865;17322878;19328558;19106095;19091959;18848526;18771677;18694935;18644985;18632752;18434601;18280112;17569113;17131384;16491131;16344560;16189514;15832194;15824892;15632084;15489334;15269220;14702039;14690430;12840032;12759238;12477932;11998972;10048930;9858808;9535927;9205128;8125298;11359773;15766528;19913121;20628086;21145461;10846176;19608870;20097731;9788880;15276183;20554528;20638106;20806045;20665674;20800603;23108049;21499306;18255255;22848708;23023500;21454500;21610072;21680106;23132790;21387288;22318606;22504224;21906983;22169769;22171919;22535643;22744456;22028468;22812510;22155192 1848 F8VW29;F8VZA4;Q16828 AB013382;AB013601;AB013602;AB189400;AB451265;AB451393;ABBA01053420;AC024909;AK091753;AK222882;AMYH01004648;AU135449;BC003143;BC003562;BC005047;BC037236;BT006895;CH471054;HI179184;NM_001946;NM_022652;X93920 AAH03143;AAH03562;AAH05047;AAH37236;AAP35541;ABM83416;ABM86627;BAA31968;BAA31969;BAA34369;BAD38886;BAD96602;BAG70079;BAG70207;CAA63813;CBX53900;EAW97422;EAW97423;EAW97424;NP_001937;NP_073143;Q16828 Hs.298654;Hs.718640 1646367;1647227;2162120;2217282;5024095 D12S1400;D12S1567;DUSP6_594;WI-14395;WI-18566 HH19;MKP3;PYST1 MAP kinase phosphatase 3;OTTHUMP00000242453;OTTHUMP00000242454;dual specificity protein phosphatase 6;dual specificity protein phosphatase PYST1;mitogen-activated protein kinase phosphatase 3;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000139318 3072 04124 602748;615269 REVIEWED 4109174 DUX4L4 double homeobox 4 like 4 4 4 q35.2 191235960 191237564 + 191001979 191003583 + 6480464 10433963;17588759;17668377;7739628;11245978;17984056 441056 E9PEK5;P0CJ87 ABBA01039644;AC126281;AMYH01025239;NG_027707;NM_001177376;XM_003960850;XM_003960957 NP_001170847;P0CJ87;XP_003960899;XP_003961006 OTTHUMP00000220043;double homeobox protein 4-like protein 4;double homeobox, 4-like protein-coding ENSG00000258834 38686 VALIDATED 4108582 DUX4L5 double homeobox 4 like 5 4 4 q35.2 191232660 191234270 + 190998679 191000289 + 10433963;17588759;17668377;7739628;11245978;17984056 653545 F5GZ66;P0CJ88 AC126281;AF117653;NM_001127389 AAD54068;NP_001120861;P0CJ88 Hs.714687 OTTHUMP00000220040;double homeobox protein 4-like protein 5;double homeobox, 4-like protein-coding ENSG00000259063 38689 VALIDATED 4108573 DUX4L6 double homeobox 4 like 6 4 4 q35.2 191229367 191230977 + 190995386 190996996 + 10433963;17588759;17668377;7739628;11245978;17984056;9736770 653544 F5GZ66;P0CJ89 AC126281;AF117653;AMYH01014807;NM_001127388 AAD54067;NP_001120860;P0CJ89 OTTHUMP00000220038;double homeobox protein 4-like protein 6;double homeobox, 4-like protein-coding ENSG00000258697 37265 VALIDATED 4108596 DUX4L3 double homeobox 4 like 3 4 4 q35.2 191242547 191244157 + 191008566 191010176 + 10433963;17668377;7739628;11245978;17588759;17984056 653548 F5GZ66;P0CJ86 ABBA01004415;AC126281;NM_001164467;XM_003960947 NP_001157939;P0CJ86;XP_003960996 Hs.723089 OTTHUMP00000220044;double homeobox protein 4-like protein 3;double homeobox, 4-like protein-coding ENSG00000259034 38688 VALIDATED 4108591 DUX4L7 double homeobox 4 like 7 4 4 q35.2 191226074 191227684 + 190992093 190993703 + 10433963;17668377;7739628;11245978;17588759;17984056 653543 F5GZ66;P0CJ90 ABBA01138781;AC126281;AMYH01023734;NM_001127387;XM_003960843;XM_003960959 NP_001120859;P0CJ90;XP_003960892;XP_003961008 OTTHUMP00000220039;double homeobox protein 4-like protein 7;double homeobox, 4-like protein-coding ENSG00000258755 37266 VALIDATED 4108840 DUX4L8 double homeobox 4 like 8 (pseudogene) 4 q35.2 190987701 190990406 + 100287020 XR_078305 APPROVED pseudo 38670 1605468 DUXAP1 double homeobox A pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 84806639 84807173 + 84831262 84831996 + 84977851 84978385 + 503630 ABBA01075726;AC010087;AMYH01010490;NG_004841 APPROVED pseudo 32180 INFERRED 1604882 DUXA double homeobox A Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 54706783 54722567 - 62354906 62370668 - 57663094 57678856 - 17005330;21732829 503835 A6NLW8 ABBA01020817;ABBA01020818;AC025588;AMYH01010026;NM_001012729 A6NLW8;NP_001012747 Hs.585857 1335633;1664627;5014051;5016478;5022200;5022463;5022651 D11S2921;D19S254;D3S1673;D8S2278;GDB:434012;L17815;L18426 OTTHUMP00000244252;double homeobox protein A APPROVED protein-coding 32179 10619 611168 VALIDATED 1605467 DUXAP2 double homeobox A pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 8 8 8 q22.3 98563508 98564217 - 102447360 102448568 - 102378566 102379275 - 503631 ABBA01037591;AC011028;AMYH01018932;AP001208;NG_004842 APPROVED pseudo 32181 INFERRED 1602610 DUXAP3 double homeobox A pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 39244116 39247548 - 42560728 42564185 - 43240749 43244181 - 503632 ABBA01049992;AL022344;AMYH01002282;NG_007339 APPROVED pseudo 32182 INFERRED 1605466 DUXAP4 double homeobox A pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41554234 41555846 + 44870967 44872779 + 45551062 45552674 + 503633 ABBA01050024;AL390758;AMYH01002298;NG_004843 APPROVED pseudo 32183 INFERRED 1353640 DUX5 double homeobox 5 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX5, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] 3 75718003 75718593 + 15709750;11245978;9736770 26581 Q96PT3 ABBA01018524;AF133131;NM_012149 AAD33598;AAI52798;AAL02243;NP_036281;Q96PT3 DUX1 double homeobox protein 1;double homeobox protein 5;double homeobox, 5 APPROVED protein-coding 3083 18587 611444 VALIDATED 1605465 DUXAP5 double homeobox A pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116475606 116476923 - 118820057 118821574 - 119314947 119316264 - 503634 ABBA01039669;AMYH01004084;AP003396;NG_004844 APPROVED pseudo 32184 INFERRED 1605461 DUXAP9 double homeobox A pseudogene 9 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 14 14 q11.2 18950563 18953648 - 19881382 19883648 - 17005330 503638 AL589182;NG_004839 APPROVED pseudo 32188 INFERRED 2306720 DUXB double homeobox B q23.1 17668377;17005330 100033411 AC025287 double homeobox B protein-coding 33345 1605464 DUXAP6 double homeobox A pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 69236530 69237566 + 90625572 90626831 + 92824668 92825704 + 503635 ABBA01053090;AC116903;AMYH01006929;NG_004845 APPROVED pseudo 32185 INFERRED 1605462 DUXAP8 double homeobox A pseudogene 8 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 22 22 q11.21 14528354 14531440 - 16149173 16151440 - 17005330 503637 ABBA01195120;AMYH01012356;AP000525;AP000526;NG_004840 APPROVED pseudo 32187 INFERRED 1348473 DVL1P1 dishevelled segment polarity protein 1 pseudogene 1 22 22 q11.21 3092760 3093108 - 19240644 19240992 - 1580898;1580863 8644734 19643732;16604061;10591208;9192851;8817329;12384700;20639201 8215 P54792 ABBA01005421;AC000094;AMYH01012477;NG_009878;U46462 DSH;DVL;DVL-22;DVL1;DVL1L1;DVL4 APPROVED pseudo 3085 601225 INFERRED 1605463 DUXAP7 double homeobox A pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18697033 18698380 - 18570854 18572383 - 18622954 18624291 - 503636 ABBA01054053;AL121900;AMYH01011743;NG_004846 APPROVED pseudo 32186 INFERRED 1352825 DWS dandy-walker syndrome 7240710 1858 3088 1605460 DUXAP10 double homeobox A pseudogene 10 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] 14 14 q11.2 18732527 18765122 + 19691736 19694003 + 17005330;14702039 503639 AK022914;AK056135;AL589743;AL929602;NG_004838 Hs.744284 FLJ12852;FLJ31573 APPROVED pseudo 32189 INFERRED 1345424 DUSP9 dual specificity phosphatase 9 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases, is expressed only in placenta, kidney, and fetal liver, and is localized to the cytoplasm and nucleus. [provided by RefSeq, Jul 2008] X X X q28 153141581 153150465 + 152561182 152569971 + 152907897 152916781 + 1302383;1580863;6480464;6907045;7240533 9286695;20626350 9030581;18029348;18006813;15772651;12477932;11988087;20581827;21206059;21908610;21139048;21906983;21943117;21963094;21988832;22678362;22961080;23383273;23029454 1852 B2RAL9;H0Y7W4;Q99956 ABBA01045373;AI253132;AK314250;AMYH01023296;BC034936;BC042166;BC060837;CH471172;HC250955;HC311144;NM_001395;U52111;U87167;Y08302 AAB47559;AAH34936;AAH42166;AAH60837;BAG36916;CAA69610;CBJ05775;CBJ21227;EAW72847;EAW72848;EAW72849;NP_001386;Q99956 Hs.144879;Hs.744909 1644022;1795718;2152845 A005O13;DUSP9_319;RH70965 MKP-4;MKP4 OTTHUMP00000025951;OTTHUMP00000025953;OTTHUMP00000044049;dual specificity protein phosphatase 9;map kinase phosphatase 4;mitogen-activated protein kinase phosphatase 4;serine/threonine specific protein phosphatase APPROVED protein-coding ENSG00000130829 3076 02136 300134 REVIEWED 1349758 DUT deoxyuridine triphosphatase This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008] 15 15 q21.1 46410913 46422862 + 48623621 48635570 + 1580863;2300191;5133680;6480464;6907045 3032103;16325515 19403629;8631816;1325640;22172489;19302784;19015155;18464913;17880943;17848562;17081983;16189514;15629463;15489334;12799180;12477932;12374095;12369926;12096336;11118321;10910061;9228092;9070952;8910358;8805593;8631817;8389461;1091006;15604093;19060904;19879316;19968781;20877624;20560137;21145461;22863883;21780905;22939629;18781797;21139048;21890473;21906983;21628590;22053931;22944692 1854 H0Y477;H0YKC5;H0YKI0;H0YMM5;H0YMP1;H0YNJ9;H0YNW5;Q96Q81 AB049113;ABBA01039141;AC023355;AF018429;AF018432;AK000629;AK291515;AK298464;AK312122;AMYH01006628;AY935242;BC033645;BC070339;BC110377;BF697257;BG505144;BG532018;BI257870;CH471082;CR541720;CR541781;L11877;M89913;NG_029497;NM_001025248;NM_001025249;NM_001948;U31930;U62891;U90223;U90224 AAA36801;AAA58444;AAB71393;AAB71394;AAB93866;AAB93867;AAB94642;AAC50418;AAC51123;AAH33645;AAH70339;AAI10378;AAX14045;ABM82117;ABM85301;BAB13724;BAF84204;BAG35058;BAG60677;CAG46521;CAG46580;EAW77349;EAW77350;EAW77351;EAW77352;NP_001020419;NP_001020420;NP_001939;P33316 Hs.527980 1666154;1675748;1690594;1724537;2138753;2172006 M89913;RH122528;RH39501;RH92298;SHGC-36316;WI-17558 FLJ20622;dUTPase dUTP nucleotidohydrolase;dUTP pyrophosphatase;deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial APPROVED protein-coding ENSG00000128951 3078 03165 601266 REVIEWED 733042 DVL1 dishevelled segment polarity protein 1 DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008] 1 1 p36 1260521 1274358 - 1270658 1284492 - 1580898;1580899;734906;1581696;1581694;2301993;6480464;6484113;6907045 8644734;15256074;9298901;16478782;15608632 9482734;10330181;11113207;8817329;19453261;18760999;18692936;18632848;18347071;18162551;18093802;16621789;16457155;15852005;15456783;15342556;15262978;14750955;14702039;14684739;12941796;12883684;12824876;12650946;12556519;12533515;12490194;12477932;11818547;11803455;11779461;11742073;11487578;10806215;10644691;10581192;10428961;10330403;9344861;9192851;8856345;8288125;10332026;16169070;12805222;21262972;20634891;19465938;19561074;19956716;20177058;20412773;20388731;14747478;20846493;17593335;15454084;19388021;19643732;21044957;20439735;20227366;20639201;21900206;21906983;18223681;22826439;22467858;21963094;21988832;19625296 1855 O14640 AB209210;ABBA01016032;AF006011;AK093189;AK095867;AK293286;AK300063;AL139287;AMYH01000130;BC017225;BC025292;BC050454;BC111419;BP305846;CH471183;NG_008048;NM_004421;U46461 AAB65242;AAC50682;AAH17225;AAH50454;BAC04089;BAD92447;BAG53150;BAH11484;BAH13201;EAW56224;EAW56225;EAW56226;EAW56227;NP_004412;O14640;P54792 Hs.731450 1665809;2146167 RH68255;SHGC-74072 DVL;DVL1L1;DVL1P1;MGC54245 DSH homolog 1;DSH homolog 1-like;OTTHUMP00000003104;OTTHUMP00000003106;dishevelled 1 (homologous to Drosophila dsh);dishevelled, dsh homolog 1;dishevelled-1;dishevelled-1-like;segment polarity protein dishevelled homolog DVL-1;segment polarity protein dishevelled homolog DVL-1-like APPROVED protein-coding ENSG00000107404 3084 03220 601365 REVIEWED 1344523 DYNAP dynactin associated protein 18 18 18 q21.2 48975950 48984284 + 50409388 50417722 + 52258390 52266724 + 14702039;20978158 284254 K7EMN5;Q8N1N2 ABBA01056101;AC091135;AK096425;AMYH01009013;CH471096;NM_173629 BAC04784;EAW63007;NP_775900;Q8N1N2 Hs.376146 C18orf26;FLJ39106 OTTHUMP00000163561;dynactin-associated protein;full;hypothetical protein LOC284254;uncharacterized protein C18orf26 APPROVED protein-coding ENSG00000178690 26808 08251 PROVISIONAL 1318833 DVL3 dishevelled segment polarity protein 3 This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008] 3 3 q27 185355978 185374008 + 183873284 183891314 + 1580863;2301993;6480464;6484113;6907045 10644691;8817329;18692936;18093802;17030191;16189514;15677333;15489334;14702039;12477932;10806215;10330181;9344861;9192851;9039502;12805222;15456783;10535959;11113207;11274398;11433294;16169070;19465938;20137080;19137009;17593335;16547521;19388021;21667018;21900206;20227366;21906983;22892949;23718855;20128690;22826439;22472876;15231748;19379695;19447967;21963094;21988832;22682247;22863007;23022960;19625296;22569537;22612246 1857 B4E3E5;C9K0P9;F8WCF1;Q92997 ABBA01058455;AC131235;AF006013;AK093469;AK304686;AL110278;AMYH01013710;AMYH01013711;BC018289;BC032459;CH471052;D86963;NM_004423;U48252;U49262;U75651 AAB47447;AAB65244;AAB84228;AAC72246;AAH18289;AAH32459;ABM82542;ABM85734;BAA13199;BAG65457;CAB53713;EAW78293;EAW78294;EAW78295;EAW78296;NP_004414;Q92997 Hs.388116 1651735;1773242;1775349;2112654;2112694;2115021;2157305;2159399 1436;D3S4388;D3S4407;RH101840;RH77956;SHGC-77602;SHGC-77605;STS-R80399 KIAA0208 DSH homolog 3;OTTHUMP00000210777;OTTHUMP00000210778;dishevelled 3 (homologous to Drosophila dsh);dishevelled, dsh homolog 3;dishevelled-3;segment polarity protein dishevelled homolog DVL-3 APPROVED protein-coding ENSG00000161202 3087 03222 601368 REVIEWED 1352824 DYDC1 DPY30 domain containing 1 This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 10 10 10 q23.1 76086210 76106851 - 82085841 82106480 - 82095861 82116514 - 6480464 16189514;15489334;15164054;14702039;12477932;16385451;18197198;19545932 143241 A8K927;Q8WWB3 ABBA01003802;ABBA01003803;ABBA01003804;AK125908;AK292542;AL359195;AMYH01002882;BC019250;BI828082;CH471142;HC007076;HC044627;NM_001269053;NM_138812 AAH19250;ACE86650;ACE87332;BAC86339;BAF85231;CBH19343;CBH30643;EAW80394;NP_001255982;NP_620167;Q8WWB3 Hs.407751 DPY30D1;FLJ43920;bA36D19.5 BC019250 protein;DPY30 domain-containing protein 1;OTTHUMP00000019962;OTTHUMP00000019963;OTTHUMP00000019964 APPROVED protein-coding ENSG00000170788 23460 14062 615154 REVIEWED 1352468 DYDC2 DPY30 domain containing 2 This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 10 10 10 q23.1 76106909 76118178 + 82106538 82117809 + 82104501 82127829 + 6480464 16189514;15489334;15164054;14702039;12477932;16385451;19447967;16344560;18197198;22318606 84332 Q96IM9 ABBA01003802;ABBA01003803;ABBA01003804;AK093378;AL359195;AMYH01002882;BC007374;BC018606;BQ229460;CH471142;DA590784;NM_001270041;NM_001270042;NM_032372;NR_070308;NR_070309 AAH07374;BAC04148;EAW80391;EAW80392;EAW80393;NP_001256970;NP_001256971;NP_115748;Q96IM9 Hs.741500 5125497 SHGC-56385 MGC16186;bA36D19.6 DPY30 domain-containing protein 2;OTTHUMP00000019966;OTTHUMP00000019968;OTTHUMP00000019969;OTTHUMP00000019970 APPROVED protein-coding ENSG00000133665 23468 11311 REVIEWED 7207017 DYNC1I2P1 dynein, cytoplasmic 1, intermediate chain 2 pseudogene 1 10 q11.23 52024724 52026772 + 728532 ABBA01052477;AL450382;AMYH01002732;NG_022178 1677348;1770331;2117912 G19650;RH16687;RH18052 pseudo 45012 INFERRED 1320219 DVL2 dishevelled segment polarity protein 2 This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008] 17 17 p13.1 7069385 7078587 - 7128661 7137863 - 1580863;2293492;2301993;6480464;6484113;6907045 17226800 18093802;16713569;16189514;9192851;8887313;19453261;18838381;18692936;17593335;17529994;19322201;22826439;16446366;15489334;15456783;15262978;12958364;12533515;12477932;11779461;11742073;10829020;10806215;10644691;8817329;8662242;12805222;19913121;20628086;20639871;19249679;19379695;19465938;20137080;20219685;19137009;20628365;20823832;18787224;19388021;20439735;21666888;22863883;21990322;21487968;22609948;22655072;21139048;21890473;21906983;22106258;22223637;21963094;21988832;23371553;23022960;23396967;23396968;23396981;22892949;23455922;23503679;22887353;19625296;22505724 1856 I3L0M7;I3L0Z8;I3L2N2;I3L2W9;O14641 ABBA01054854;ABBA01054855;AC120057;AF006012;AK026019;AK297099;AK297285;AK304229;AK309771;AK312829;AMYH01008073;AMYH01008074;BC014844;BG716400;BT009822;CB994349;CH471108;NG_033038;NM_004422 AAB65243;AAH14844;AAP88824;ADZ16035;BAG59612;BAG59756;BAG65098;EAW90244;EAW90245;NP_004413;O14641 Hs.118640 1659680;1778559;2216976;2218524 ACADVL_2963;DVL2__3968;RH11492;SHGC-35547 DSH homolog 2;OTTHUMP00000128349;dishevelled 2 (homologous to Drosophila dsh);dishevelled, dsh homolog 2;dishevelled-2;segment polarity protein dishevelled homolog DVL-2 APPROVED protein-coding ENSG00000004975 3086 03690 602151 REVIEWED 1350887 DYM dymeclin This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008] 18 18 q21.1 44824170 45241077 - 46570172 46987079 - 1598787;1580863;6480464;7240710 12491225 18996921;18391952;17456239;15489334;14702039;12554689;12477932;12362026;12161821;8125298;20546612;20555340;20379614;21280149;20865280;21139048;21890473;21906983;21998595;22021425;20881960;18029348;23064961 54808 E9PG80;J3KRG4;J3KSF9;J3KSU8;J3KTF2;J3QQT7;J3QR81;J3QRD8;J3QRF2;J3QSE7;Q9NPU7 ABBA01018644;ABBA01018645;ABBA01018646;ABBA01018647;ABBA01018648;ABBA01018649;ABBA01018650;ABBA01018651;ABBA01018652;ABBA01018653;AC016866;AC044840;AC090329;AC100778;AK000078;AK074611;AK091256;AK225205;AK291303;AK296579;AK315091;AL390156;AMYH01008985;AMYH01008986;AMYH01008987;AMYH01008988;AMYH01008989;AMYH01008990;AY364250;BC001252;BC064394;BK000950;BQ021755;CH471096;DQ925676;NG_009239;NM_017653 AAH01252;AAH64394;AAQ76809;ABL59903;BAA90931;BAC11088;BAF83992;BAG37556;BAG52319;BAG59199;CAB99092;DAA00396;EAW62932;EAW62933;EAW62934;EAW62935;EAW62936;EAW62937;NP_060123;Q7RTS9 Hs.162996 1696316;1727469;1730767;1757379;1772148;1783676;1783718;1847171;1850805;2110923;2157874;2165024;7184743;7185502 D18S106E;D18S361E;D18S917E;G62992;RH46012;RH46385;SHGC-144774;SHGC-144977;SHGC-154967;SHGC-30879;SHGC-77740;WI-17768 DMC;FLJ20071;FLJ90130;SMC OTTHUMP00000163493;dyggve-Melchior-Clausen syndrome protein;dymeclin APPROVED protein-coding ENSG00000141627 21317 08469 223800;607326;607461 REVIEWED 734329 DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 7 7 q21.3-q22.1 95239838 95565660 + 95401818 95727736 + 1580863;6480464;6907045 14985359;10049579;16344560;16260502;16189514;15342556;15121898;14702039;12853948;12690205;12477932;12006665;11500918;11148209;8943288;12475239;15992542;21145461;22610502;17139249;19229290;20048338;20201926;21767414;15303970;21900206;20682791;21763495;12359736;16051887;17609108;18784752;21652625;11483508;20360680;23251661 1780 A4D1I7;C9J3E7;E5RFE1;E5RJ75;F5H050;G5E9K1;O14576;Q8N542 AACC02000013;ABBA01045774;ABBA01045775;AC002452;AC002540;AC022261;AC091779;AF063228;AF123074;AK091339;AK297427;AK309419;AK313148;AMYH01017701;BC012504;BC022540;BC032945;BC037854;BC053542;BP307571;CH236949;CH471091;DA491512;DB343806;NM_001135556;NM_001135557;NM_001278421;NM_001278422;NM_004411 AAB67047;AAB70113;AAC33443;AAD26852;AAH22540;AAH32945;AAH37854;AAH53542;AAS01994;AAS07455;BAC03639;BAG35966;BAG59855;EAL24126;EAW76751;EAW76752;EAW76753;EAW76754;EAW76755;NP_001129028;NP_001129029;NP_001265350;NP_001265351;NP_004402;O14576 Hs.440364 1336074;1652434;1661321;1663797;1667378;1684646;1691696;1706648;1716743;1772492;1855364;1856045;2108753;2142893;2143367;2143369;2149559;2154109;2177677;2177795;7188533;7188535 1882;A002B38;A004Y38;D7S1905;D7S2344;D7S2401;D7S527;DNCI1_8308;G19901;G42166;GDB:1317258;GDB:1318306;RH121663;RH28673;RH46992;RH78634;SHGC-31822;SHGC-56156;SHGC-82807;STS-R44592 DNCI1;DNCIC1 DH IC-1;OTTHUMP00000204776;OTTHUMP00000204818;OTTHUMP00000204855;OTTHUMP00000204856;OTTHUMP00000225662;cytoplasmic dynein 1 intermediate chain 1;cytoplasmic dynein intermediate chain 1;dynein intermediate chain 1, cytosolic;dynein, cytoplasmic, intermediate chain 1;dynein, cytoplasmic, intermediate polypeptide 1 protein-coding ENSG00000158560 2963 04798 603772 VALIDATED 1606006 DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1 3 3 3 p22.3 32504552 32549458 - 32542470 32587346 - 32567463 32612366 - 6480464;6907045 21145461;19229290;17081983;16565220;16260502;15345747;15302935;14702039;11243854;10893222;8125298;21169557;18029348;12477932;20026645;16344560;19454010;22863883;22939629;23383273;21628590;20360068;21139048;22190034 51143 C9JGM7;C9JLW1;E9PHI6;Q9Y6G9 ABBA01024936;ABBA01024937;ABBA01024938;AC104306;AF078849;AK001081;AK074348;AK222573;AK222653;AK293253;AMYH01013061;AMYH01013062;BC131620;BU521223;BX649189;CH471055;DA284201;NM_016141 AAD44481;AAI31621;BAD96293;BAD96373;BAG50854;BAG56785;CAE46207;EAW64431;EAW64432;EAW64433;NP_057225;Q9Y6G9 Hs.529495 1734260;1735318;1847137;1848385;2109243;2140592;2140594;5017738;5022578 A005S28;D1S1423;D3S2751E;D3S2949E;DNCLI1_9670;DYNC1LI1;G20465;RH12436;SGC32413 DNCLI1;FLJ10219;LIC1 DLC-A;OTTHUMP00000161315;OTTHUMP00000208862;cytoplasmic dynein 1 light intermediate chain 1;dynein light chain A;dynein light chain-A;dynein light intermediate chain 1, cytosolic;dynein, cytoplasmic, light intermediate polypeptide 1 protein-coding ENSG00000144635 18745 10917 VALIDATED 1602120 DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1 2 2 2 p25.1-p24.1 43839914 43875885 + 43854686 43890653 + 44001178 44037149 + 6480464;6907045 12477932;12432068;12401177;11907264;10810093;8125298;17207965;12802074;21139048;21890473 51626 E5RFM8;E5RJK4;E5RK97;F8W853;H7BYC8;Q9Y3S9 ABBA01075097;AC011242;AF151818;AK074206;AK223432;AK301489;AL050006;AMYH01010304;AY083346;BC006969;BC016324;BC035126;BC040558;BC058823;BG716986;BX493698;CB528979;CH471053;NM_001193464;NM_015522;NM_016008 AAD34055;AAH06969;AAH16324;AAH40558;AAH58823;AAL99216;AAY14702;ADQ32119;ADZ16093;BAD97152;BAG63001;CAB43233;EAX00289;EAX00290;EAX00291;NP_001180393;NP_056337;NP_057092;Q8TCX1 Hs.371597 2109217;2178307;2186398;5016781;5037552 D2LIC_9744;D8S2279;SHGC-36672;SHGC-67307;SHGC-8189 CGI-60;D2LIC;DKFZp564A033;LIC3 OTTHUMP00000158829;OTTHUMP00000201651;OTTHUMP00000201652;OTTHUMP00000201653;OTTHUMP00000227696;cytoplasmic dynein 2 light intermediate chain 1;dynein 2 light intermediate chain protein-coding ENSG00000138036 24595 13116 VALIDATED 1352816 DYNLL1P1 dynein, light chain, LC8-type 1 pseudogene 1 14 14 14 q31.1 61752272 61752933 - 80781913 80782951 - 81712354 81713015 - 246720 ABBA01030610;AC010582;AL136040;AMYH01005904;NG_001584 DNCL1P1 APPROVED pseudo 20723 INFERRED 1349738 DYNLL1P2 dynein, light chain, LC8-type 1 pseudogene 2 14 q31.1 81879314 81879583 + 338456;731308 ABBA01030608;AL121769;NG_031940 DNCL1P2 APPROVED pseudo 20724 INFERRED 1606227 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] 11 11 q21-q22.1 102485370 102855801 + 102980160 103350591 + 6480464;6907045;7240710 19361615;16320026;14702039;12477932;12056414;9763680;9373155;9325061;8832411;8666668;8186465;12432068;11907264;16440056;19442771;19615732;20379614;21118971;22990118;21723285;21139048;21890473;21906983;22499340;21525035 79659 H0YDE0;H0YEX1;Q8N977 AB082528;AB231765;AB231766;AB290167;ABBA01039927;ABBA01039928;AF288405;AK021818;AK095579;AK125524;AK131453;AMYH01003995;AMYH01003996;AP000817;AP001486;AP002829;AP002961;AP003382;AP003461;BC037496;BC038344;BX538093;BX649161;NG_016423;NM_001080463;NM_001377;U20552;U53531;Z83800 AAB09728;AAB50020;AAH37496;BAB13905;BAC02706;BAC04578;BAC86194;BAD18598;BAE17138;BAE46899;BAG06721;CAB06054;CAD98012;NP_001073932;NP_001368;Q8NCM8 Hs.503721 1646358;1703370;1720411;1723117;1732774;1762085;1762087;2139990;2186263;5093538;5109963 A009Q21;D11S1873;D11S2308E;D11S2814;G32777;G59008;RH123744;SHGC-145992;SHGC-145993;SHGC-34226;SHGC-68668 ATD3;DHC1b;DHC2;DNCH2;DYH1B;FLJ11756;SRPS2B;hdhc11 OTTHUMP00000231582;OTTHUMP00000231584;cytoplasmic dynein 2 heavy chain 1;dynein cytoplasmic heavy chain 2;dynein heavy chain 11;dynein heavy chain isotype 1B;dynein heavy chain, isotype 1B;dynein, cytoplasmic, heavy polypeptide 2 APPROVED protein-coding ENSG00000187240 2962 263510;263520;603297;613091;615087 REVIEWED 1351274 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008] 14 14 q32 101500734 101586888 + 102430865 102517135 + 1298890;1580863;6480464;6907045;7240710 8812413 11163260;11889140;17043677;17353931;8227145;18029348;8666668;19020519;17676955;17567985;17081983;16546759;16260502;15635413;15489334;15324660;15231748;14760703;14702039;14632200;12477932;11163259;11112706;10771482;9373155;9205841;8889548;8001984;11101529;11483508;10189366;14600259;21145461;21319273;20677014;20029029;11076968;12221128;12852856;16462731;19448619;7790358;18303054;19875381;23213255;22863883;22990118;21820100;21723285;22368300;21875946;17314511;21139048;21890473;21906983;21987572;22108332;15161933;19343720;19765186;20360068;21486957;22373868;20301462;17620599;22586326;22459677;12885786;14970193;16203747;18784752;19622634;17500595;17893145;21163940;22939629;23583712;23589491;19738201;19805454;20360680;21525035;21963094;22623428;22847149;22956769;23000965;23349634;23401859;19286658;19380743;19826009;21853274;22174317;22190034;22505724;23455922 1778 H0YJ21;Q14204 AB002323;AB290157;ABBA01048497;ABBA01048498;ABBA01048499;ABBA01048500;AF234785;AI241115;AI302138;AK023747;AK095415;AK299878;AL118558;AL833600;AMYH01006027;AY682080;BC021297;BC064521;BM976324;BP871545;BX648670;CH471061;DB508175;L23958;NG_008777;NM_001376;U53530;U61737 AAA16065;AAB09727;AAC50701;AAF35913;AAH21297;AAH64521;AAT74625;BAA20783;BAG06711;BAG61728;EAW81759;EAW81760;EAW81761;EAW81762;EAW81763;EAW81764;NP_001367;Q14204 Hs.614080 1649365;1649367;1659455;1684564;2109241;2114746;2119285;2132321;2140757;2169132;2180061;5014023;5015881;5015961;5016478;5020740;5022322;5022450;5022578;5037552 A002C27;A008V18;D10S275;D11S2560;D13S1553;D15S1477;D1S1423;D8S2279;DNCH1_8307;G19930;GDB:335751;GDB:434012;IB1673;L17809;RH146;RH17951;RH36371;RH45764;RH92631;WI-20030 CMT20;DHC1;DHC1a;DKFZp686P2245;DNCH1;DNCL;DNECL;DYHC;Dnchc1;HL-3;KIAA0325;MRD13;SMALED;SMALED1;p22 OTTHUMP00000246649;cytoplasmic dynein 1 heavy chain 1;cytoplasmic dynein heavy chain 1;dynein heavy chain, cytosolic;dynein, cytoplasmic, heavy polypeptide 1;dynein, cytoplasmic-like APPROVED protein-coding ENSG00000197102 2961 02524 158600;600112;614228;614563 REVIEWED 1344148 DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008] 16 16 16 q22.1 51262971 51293905 - 65312300 65343026 - 66754799 66785525 - 1580863;6480464;6907045 7738094;17081983;16964243;16260502;15489334;15302935;14702039;12477932;12417987;16169070;21145461;21169557;20214888;21832049;22863883;22939629;20360068;21139048;19322201 1783 B4DZP4;B4E2E0;E7EPL8;H3BU48;H3BUM4;J3KRI4;J3KRZ2;J3KSD2;J3QKK5;O43237;Q63HJ8 ABBA01025413;ABBA01025414;ABBA01025415;AC018557;AC044802;AF035812;AK024863;AK095237;AK291766;AK295049;AK303031;AK304233;AL708642;AMYH01007742;BC010928;BC022934;BC025959;BC036633;BC069056;BM805417;BX648863;CH471092;NM_006141 AAB88513;AAH25959;BAF84455;BAG58099;BAG64156;BAG65102;CAH56157;EAW83039;EAW83040;NP_006132;O43237 Hs.369068 1653485;1662538;1710736;2125169;2144085;2163957 RH69477;RH79037;SHGC-61068;SHGC-61131;SHGC-83995;UniSTS:56070 DNCLI2;LIC2 LIC-2;LIC53/55;OTTHUMP00000174820;cytoplasmic dynein 1 light intermediate chain 2;dynein light intermediate chain 2, cytosolic;dynein, cytoplasmic, light intermediate polypeptide 2 APPROVED protein-coding ENSG00000135720 2966 09923 611406 VALIDATED 732025 DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 2 2 2 q31.1 166160554 166221488 + 172252228 172313165 + 172543982 172604919 + 1580863;6480464;6907045 8125298;8522607;17353931;16381901;16260502;16189514;15489336;15489334;15302935;15252450;14702039;12477932;11751894;11230166;11076863;10049579;21145461;11076968;12221128;12852856;16169070;16462731;7790358;16159877;22863883;22990118;16196087;18781797;20360068;21139048;21628590;16344560;19386764;19540120;19744529;22094641;22190034;22200735 1781 B4DPZ3;B7ZA04;E7EMU4;E7EQL5;E7EQU2;E7ERH4;E7ERR6;E7ESD3;E7ET01;E7ETL8;E7EU01;E7EUM4;E7EV09;E9PGG1;F8W8S0;Q96NG7 AB209014;ABBA01020727;AC064826;AC068039;AF134477;AF250307;AK024742;AK026574;AK055491;AK096579;AK225759;AK298561;AK301866;AK308008;AK316119;AL137519;AL832832;AMYH01011262;AY037160;BC015038;BC091498;BC109375;BT007130;BX537412;CH471058;DA435365;DQ786313;DQ786324;NM_001271785;NM_001271786;NM_001271787;NM_001271788;NM_001271789;NM_001271790;NM_001378;U39575 AAA89166;AAH15038;AAH91498;AAI09376;AAK37426;AAK67638;AAP35794;AAP97254;AAX93177;AAY24133;BAB15502;BAB70932;BAD92251;BAG60755;BAG63305;BAH14490;CAB70785;CAD97654;CAL38635;EAX11199;EAX11200;EAX11201;EAX11202;EAX11203;EAX11204;EAX11205;EAX11206;EAX11207;EAX11208;EAX11209;NP_001258714;NP_001258715;NP_001258716;NP_001258717;NP_001258718;NP_001258719;NP_001369;Q13409 Hs.632981 1298278;1340099;1651509;1660236;1665793;1677348;1699210;1759707;1770331;2117912;2137614;2140445;5022757;7186104 D2S2302;D2S335;DYNC1I2;G19650;RH103186;RH16687;RH18052;RH46285;RH68005;RH69663;SHGC-150980;SHGC-34492;SHGC-62010 DNCI2;FLJ21089;FLJ90842;IC2;MGC104199;MGC111094;MGC9324 DH IC-2;OTTHUMP00000204977;OTTHUMP00000205407;OTTHUMP00000205408;OTTHUMP00000205409;OTTHUMP00000205410;OTTHUMP00000205411;OTTHUMP00000205452;OTTHUMP00000205453;cytoplasmic dynein 1 intermediate chain 2;cytoplasmic dynein intermediate chain 2;dynein intermediate chain 2, cytosolic;dynein, cytoplasmic, intermediate polypeptide 2 protein-coding ENSG00000077380 2964 04512 603331 REVIEWED 7244909 DYNLL1-AS1 DYNLL1 antisense RNA 1 12477932;16344560 100506668 ABBA01020124;AC063943;AK026783;AMYH01004802;BC053632;BC065744;BX537644;CD691301;DA190937;NR_038854 Hs.660080 2172768;5022651;5037552 D11S2921;D8S2279;G29076 miscrna ENSG00000248008 48588 VALIDATED 1603169 DYNLT3P1 dynein, light chain, Tctex-type 3 pseudogene 1 20 20 20 p12.1 17534181 17534527 - 17407730 17408076 - 17459730 17460076 - 170554 ABBA01054022;AL031664;AMYH01011737;NG_001059 TCTE1P;dJ531H16.2 pseudo 16571 INFERRED 4109875 DYNLT3P2 dynein, light chain, Tctex-type 3 pseudogene 2 2 2 122264112 122265634 + 128957475 128958997 + 100381215 ABBA01040177;AC017079;AMYH01011028;NG_016784 1681841 RH77891 pseudo 37081 INFERRED 731010 DYNLL1 dynein, light chain, LC8-type 1 Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 12 12 q24.23 119392043 119420681 + 120907660 120936298 + 633683;6480464;6907045 8864115 8628263;14764673;18579519;12591950;19032974;18767155;18692162;18084006;17353931;17169380;17012239;16781079;16684779;16341674;16260502;16169070;16098226;15891768;15611139;15560738;15504720;15193260;14760703;14607844;14607843;14561217;12766061;12761050;12477932;12097491;11978406;11243854;11178896;11157096;11148209;11069771;10844022;10683380;10426949;10198631;9837926;9808772;9808041;9372968;7829101;18782753;12475239;11122378;11024152;15117959;17172455;20921139;23293355;21454704;11076968;12221128;12852856;16462731;16946704;18420585;19557173;19615732;20379614;20412299;7790358;20562859;20801876;20444980;20889982;20936810;15937109;21094642;18850735;23482567;22965910;23027904;21533121;22863883;22939629;18781797;19156129;21621319;21900206;20360068;21971545;19471022;21139048;21890473;21906983;22167198;22514732;11056532;21145461;22430153;23455922;21565611;21963094;21988832;22810585;23000965;23589491;19454010;22505724 8655 F8VRV5;F8VXI7;F8VXL2;P63167;Q6FGH9 ABBA01020122;ABBA01020123;ABBA01020124;AC063943;AK311790;AL021546;AMYH01004801;AMYH01004802;BC100289;BC104244;BC104245;BG474448;BG705617;BI491360;BM817665;BU598428;CB992195;CD678447;CH471054;CR407672;CR542128;NM_001037494;NM_001037495;NM_003746;U32944 AAB04149;AAI00290;AAI04245;AAI04246;ACT64411;ACT64412;BAG34733;CAG28600;CAG46925;EAW98195;EAW98196;EAW98197;NP_001032583;NP_001032584;NP_003737;P63167 Hs.5120 2110845;2172768;5016791;5019851;5124135;5493619 G29076;G34959;RH67198;RH80827;UniSTS:472905;UniSTS:489754 DLC1;DLC8;DNCL1;DNCLC1;LC8;LC8a;MGC126137;MGC126138;PIN;hdlc1 8 kDa dynein light chain;OTTHUMP00000240904;OTTHUMP00000240908;OTTHUMP00000240909;OTTHUMP00000240928;cytoplasmic dynein light polypeptide;dynein light chain 1, cytoplasmic;dynein, cytoplasmic, light polypeptide 1;protein inhibitor of neuronal nitric oxide synthase APPROVED protein-coding ENSG00000088986 15476 03334 601562 REVIEWED 1353109 DYRK1AIP1 DYRK1A interacting protein 1 93980 14401 1350419 DYRK1AIP2 DYRK1A interacting protein 2 93981 14459 1315823 DYNLRB2 dynein, light chain, roadblock-type 2 16 16 16 q23.3 64873265 64882963 + 79132355 79142042 + 80574854 80584541 + 1580863;6480464 11750132;12077152;16260502;12665801;12477932;19711352;19844255;20379614;21832049;22001757;23000965;23509613;22505724 83657 H3BNG9;H3BPA0;H3BQI1;Q7Z4M1;Q8TF09 ABBA01016995;AC108097;AF125108;AMYH01007842;BC035232;BC054892;CH471114;NM_130897 AAH54892;AAL75945;EAW95568;NP_570967;Q8TF09 Hs.98849 DNCL2B;DNLC2B;MGC62033;ROBLD2 OTTHUMP00000174966;bithoraxoid-like protein;dynein light chain 2B, cytoplasmic;dynein light chain roadblock-type 2;dynein, cytoplasmic, light polypeptide 2B;roadblock domain containing 2;roadblock domain-containing protein 2;roadblock/LC7-like protein-coding ENSG00000168589 15467 06204 607168 PROVISIONAL 1347661 DYRK1AIP3 DYRK1A interacting protein 3 93982 14403 730979 DYNLL2 dynein, light chain, LC8-type 2 17 17 17 q22 52622562 52629401 + 53515798 53521810 + 56160780 56167618 + 6480464;6907045 12591950;16344560;16260502;16189514;15489334;15146197;14561217;12477932;12097491;11546872;10844022;11122378;17353931;19615732;20889982;20360068;21139048;21890473;22505724 140735 Q96FJ2 ABBA01041326;AC015813;AF086304;AF112997;AK312125;AMYH01008510;BC010744;BF528423;CH471109;CN280282;CS185623;DA140058;DB022843;NM_080677 AAH10744;AAP97230;BAG35061;CAJ42804;EAW94483;EAW94484;NP_542408;Q96FJ2 Hs.720595 DNCL1B;Dlc2;MGC17810;RSPH22 8 kDa dynein light chain b;DLC8b;dynein light chain 2;dynein light chain 2, cytoplasmic;radial spoke 22 homolog protein-coding 24596 06489 608942 VALIDATED 734301 DYNLRB1 dynein, light chain, roadblock-type 1 This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013] 20 20 q11.21 32567865 32592423 + 33104204 33128762 + 6480464;6484113 11750132;12077152;18044744;17556076;16970917;16950395;16778097;16260502;16189514;15489334;15231747;12665801;12629046;12477932;11780052;11042152;14733918;10198631;19571232;19711352;22939629;22863883;20360068;12475967;20972266;21139048;21890473;21906983;21145461;22637579;23079622;23000965;23333499;22505724 83658 B1AKR6;B4DFR2;Q9NP97 ABBA01019192;AF132750;AF161511;AF165516;AF178431;AK026864;AK294214;AL109923;AL136173;AMYH01011863;AY026513;BC002481;BC007223;BG110161;BG419592;BM561321;BM791453;BQ639804;BU163605;CB149456;CH471077;NM_001281727;NM_001281728;NM_001281729;NM_014183;NM_177953;NR_104032 AAF29126;AAF86646;AAH02481;AAK18712;AAK95342;AAL75951;BAG57523;EAW76267;NP_001268656;NP_001268657;NP_001268658;NP_054902;NP_808852;Q9NP97 Hs.593920 2157487;2165924;2168136 RH41781;SHGC-53176;Z94403 BITH;BLP;DNCL2A;DNLC2A;ROBLD1 OTTHUMP00000030691;OTTHUMP00000030692;ROBL/LC7-like 1;Roadblock-1;bithoraxoid-like protein;cytoplasmic dynein light chain 2A;dynein light chain 2A, cytoplasmic;dynein light chain roadblock-type 1;dynein, cytoplasmic, light polypeptide 2A;dynein-associated protein HKM23;dynein-associated protein Km23;dynein-associated protein rkm23;roadblock domain containing 1;roadblock domain-containing protein 1 APPROVED protein-coding ENSG00000125971 15468 06203 607167 REVIEWED 1350586 DYNLT3 dynein, light chain, Tctex-type 3 This gene encodes a member of a subclass of dynein light chains. The encoded protein homodimerizes and forms the light chain component of the cytoplasmic dynein motor protein complex. This protein may be important for binding dynein to specific cargos including the spindle checkpoint protein BUB3. This protein may also function independently of dynein as a transcriptional modulator. Pseudogenes of this gene are found on chromosomes 2 and 20.[provided by RefSeq, Mar 2010] X X p21 37583033 37591775 - 37698089 37706889 - 1580863;6480464 16079286;17289665;17676955;16344560;16189514;15489334;15117959;12477932;12009301;11751937;9692886;8004092;12475239;11425878;11746667;9790665;20668116;18029348;21166973;22863883;22939629;20360068 6990 A6NGJ0;F2Z328;P51808;Q6ICS3 ABBA01047078;ABBA01047079;AK311851;AL121578;AMYH01022211;BC000968;CH471141;CR450320;CR542213;DA342302;DB492712;FB775514;NG_016797;NM_006520;U02556 AAA57444;AAH00968;ACT64502;ACT64503;BAG34793;CAG29316;CAG47009;CAV30714;EAW59452;NP_006511;P51808 Hs.446392 1669982;1681841;1688767;1702294;1731353 DXS1110;DXS7492;GDB:342122;RH17973;RH77891 RP3;TCTE1L;TCTEX1L OTTHUMP00000031912;OTTHUMP00000031913;OTTHUMP00000031914;dynein light chain Tctex-type 3;protein 91/23;t-complex-associated-testis-expressed 1-like APPROVED protein-coding ENSG00000165169 11694 02249 300302 REVIEWED 737237 DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008] 21 21 q22.13 37661729 37809549 + 38739859 38887679 + 625468;1580863;1300048;6480464 11877424 9748265;8769099;19383720;19242551;19081073;19016842;18771760;18696092;18658135;18509201;18468476;18405873;18366763;18231969;18005339;17906291;17536841;17294446;17229891;17192257;17145134;17135279;16919501;16733250;16512921;16242644;15917294;15694837;15592455;15369779;15324660;15126119;15068246;15068245;14623875;14593110;14500717;12964950;12799418;12576186;12477932;12138125;11311120;10830953;10329007;9784410;9503019;9503011;9284911;9048932;9037601;8975710;8872470;8274451;15778465;22765017;19801542;19995442;20167603;20237271;20456003;20696760;18678649;20694148;21102440;21364930;21157379;10644696;21294719;21252229;21498570;22669612;23124096;22876196;21126318;21156027;21156028;21205194;21777625;16959772;21832049;22110360;22990118;21965663;21637297;19722700;22154664;21139048;21890473;21135538;21878370;16009940;19322201;22269890;22354171;20940704;21498571;23147510;23635774;22792062;21215488;23099646;23382691;18729074;22767602;23455922 1859 E7EMI5;F8W9I9;F8WAP0;Q13627;Q76N25 AB015282;AB015283;AB015284;ABBA01057421;ABBA01057422;ABBA01057423;AF108830;AJ001870;AJ001871;AK301752;AMYH01012236;AMYH01012237;AP001413;AP001421;AP001428;AP001437;BC030515;BC045802;BC065184;CH471079;D85759;D86550;HF584751;HF584752;NG_009366;NM_001396;NM_101395;NM_130436;NM_130438;U52373;U58496;Z25423 AAB18639;AAC50939;AAD31169;AAI56310;AAI72505;BAA12866;BAA13110;BAA33975;BAA33976;BAA33977;BAG63214;CAA05059;CAA05060;CAA80910;CCQ44048;CCQ44049;EAX09702;EAX09703;EAX09704;EAX09705;EAX09706;EAX09707;EAX09708;NP_001387;NP_567824;NP_569120;NP_569122;Q13627 Hs.368240 1338154;1644230;1652893;1680284;1715339;1730861;1751393;1759825;1770254;1771224;1847059;2117174;2119269;2140133;2145664;2181385;2186186;2218526;5017851;5021998 D11Wox11;D21S1972;D21S270;D21S394;DYRK1A;DYRK1A__4795;G34602;RH120501;RH91183;SHGC-105235;SHGC-170065;SHGC-50010;SHGC-51948;SHGC-51949;SHGC-52085;SHGC-63617;SHGC-87621;SHGC-87626;SHGC-87629;STS-G06294 DYRK;DYRK1;HP86;MNB;MNBH;MRD7 MNB/DYRK protein kinase;OTTHUMP00000109090;OTTHUMP00000109091;OTTHUMP00000109094;OTTHUMP00000174799;dual specificity YAK1-related kinase;dual specificity tyrosine-phosphorylation-regulated kinase 1A;hMNB;mnb protein kinase homolog hp86;protein kinase minibrain homolog;serine/threonine kinase MNB;serine/threonine-specific protein kinase APPROVED protein-coding ENSG00000157540 3091 09018 600855;614104 REVIEWED 1344576 DYT12 dystonia 12 7240710 53589 3100 128235;614820 1347826 DYT13 dystonia 13, torsion 7240710 93983 1341819 D1S2667 3101 1345621 DYT14 dystonia 14 12084887 93984 14936 1348928 DYT15 dystonia 15, myoclonic 7240710 12391345 317714 1299942;1337839 D18S1132;D18S843 31376 1345446 DYT2 dystonia 2, torsion (autosomal recessive) 7240710 1862 3102 732244 DYNLT1 dynein, light chain, Tctex-type 1 Cytoplasmic dynein is the major motor protein complex responsible for minus-end, microtubule-based motile processes. Each dynein complex consists of 2 heavy chains that have ATPase and motor activities, plus a group of accessory polypeptides. TCTEX1 is a dynein light chain involved in cargo binding (Chuang et al., 2005 [PubMed 15992542]).[supplied by OMIM, Mar 2008] 6 6 q25.2-q25.3 158977497 158985728 - 159057506 159065804 - 6480464 15503857;18647839;16956385;16260502;15992542;15489334;15194795;14583445;12477932;12049630;12009301;11751937;10644691;9804756;8943288;8646886;5503857;12475239;15117959;21145461;20668116;17965411;8889548;21832049;22939629;21394082;21262767;21166973;16196087;21767858;21835165;20360068;21700358;22145905;21252941;22028875;22118674;21139048;21890473;21906983;22164227 6993 P63172;Q5VTU3;Q5VTU5 ABBA01021087;AK026669;AK315601;AL589931;AL591025;AMYH01016791;BC029412;BC105588;BU675683;CH471051;CR456931;D50663;EU862237;NM_006519;U56255 AAB03318;AAH29412;AAI05589;ABM83532;ABM83533;ABM86772;ABM86773;ACF74976;BAA09317;BAG37971;CAG33212;EAW47655;EAW47656;EAW47657;EAW47658;EAW47659;NP_006510;P63172 Hs.445999 1652702;5015961;5024039;5092606;5109281 A005A07;D15S1477;D16S325;D1S1425;G32210 CW-1;MGC111571;TCTEL1;tctex-1 OTTHUMP00000017508;T-complex testis-specific protein 1 homolog;dynein light chain Tctex-type 1;t-complex testis expressed 1;t-complex-associated-testis-expressed 1-like 1 APPROVED protein-coding ENSG00000146425 11697 15987 601554 VALIDATED 1350596 DYT4 dystonia 4, torsion (autosomal dominant) 7240710 8432555 1864 3104 128101;612438 1347969 DYT3 dystonia 3 (with Parkinsonism) X X q13.1 71101596 71102738 + 70748555 70749697 + 7240710 19578124;17952504;16366515;12928496;7668293;1518853 1863 XM_002343817;XM_002346308;XM_002348161 XP_002343858;XP_002346349;XP_002348202 Hs.722619 XDP Torsion dystonia-parkinsonism, Filipino type;dystonia 3 (with Parkinsonism) protein-coding 3103 314250 1352121 DYT6 dystonia 6, torsion (autosomal dominant) 7240710 9382482 1865 3106 602629 1606642 DYTN dystrotelin 2 2 2 q33.3 201277772 201344552 - 207224590 207291365 - 207516345 207583120 - 17233888 391475 A2CJ06 ABBA01062665;ABBA01062666;AC010731;AMYH01011441;DQ516347;NM_001093730 A2CJ06;ABF55377;NP_001087199 Hs.640667 1339698;1709700;1728949;1752195 D10Bir17;D2S2358;SHGC-106052;SHGC-86337 OTTHUMP00000206522;dystrotelin protein-coding ENSG00000232125 23279 PROVISIONAL 1343573 DYT7 dystonia 7, torsion (autosomal dominant) 7240710 8894706 1866 3107 1351317 DYX1 dyslexia susceptibility 1 7240710 3652490;8981944 1867 1335559;1338535;1340891;1342033;7186143 D15S132;D15S143;D15S146;D15S994 3108 127700 1316288 DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B DYRK1B is a member of the DYRK family of protein kinases. DYRK1B contains a bipartite nuclear localization signal and is found mainly in muscle and testis. The protein is proposed to be involved in the regulation of nuclear functions. Three isoforms of DYRK1B have been identified differing in the presence of two alternatively spliced exons within the catalytic domain. [provided by RefSeq, Jul 2008] 19 19 q13.2 45007830 45016681 - 40315990 40324841 - 1580863;6480464 10910078;11980910;14593110;9918863;19351855;18818203;17046823;16845176;16618736;15851482;15546868;15489334;15144186;15057824;14500717;12477932;12384504;18029348;20936779;19542220;20042639;20512148;21987572;22159921;20940704;21777625 9149 M0R131;M0R2X3;Q9Y463 ABBA01040734;AC005393;AF205861;AK074971;AK302127;AMYH01009794;BC009688;BC018751;BC025291;CH471126;NM_004714;NM_006483;NM_006484;Y17999 AAC28914;AAF15893;AAH18751;AAH25291;ABM83462;ABM86673;BAG52042;BAG63504;CAA76989;CAA76990;CAA76991;EAW56916;EAW56917;EAW56918;EAW56919;EAW56920;EAW56921;EAW56922;EAW56923;EAW56924;NP_004705;NP_006474;NP_006475;Q9Y463 Hs.130988 MIRK dual specificity tyrosine-phosphorylation-regulated kinase 1B;minibrain-related kinase;mirk protein kinase APPROVED protein-coding ENSG00000105204 3092 05188 604556 REVIEWED 1346611 DYX2 dyslexia susceptibility 2 7240710 7939663 1868 3109 600202 1344027 DYX3 dyslexia susceptibility 3 7240710 10507721 11192 1339112;1668174 D2S1337;D2S2352 3110 1351758 DYX4 dyslexia susceptibility 4 11496366 26300 3111 1349139 DYX5 dyslexia susceptibility 5 7240710 11584043 171089 1337249;1341121;7185582 D3S1595;D3S3655 18343 1351922 DYX6 dyslexia susceptibility 6 7240710 11743577 266691 1341022 D18S53 19352 1348487 DYX7 dyslexia susceptibility 7 14755455 266726 19324 1350351 DYX8 dyslexia susceptibility 8 7240710 11424982;15108193 406874 19951 1322106 DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 180060336 180073977 + 204875504 204889165 + 206808881 206822542 + 1580863;6480464 10779429;18854306;16344560;15607427;15592455;12477932;12356771;9845759;9748265;18482256;20167603;21693704;19953087;23415227 8444 O43781;Q5SY34 ABBA01010191;AF186773;AF186774;AF327561;AK291189;AK308082;AK313245;AL591846;AMYH01001676;AU126055;AY590695;BC015501;BC037269;CH471100;NM_001004023;NM_003582;Y12735 AAG17028;AAG17029;AAH15501;AAH37269;AAK16443;AAT06103;ADZ15606;BAF83878;BAG36056;CAA73266;EAW93533;EAW93534;EAW93535;NP_001004023;NP_003573;O43781 Hs.164267 1686016;1853563;2110381;2180659 DYRK3__4798;G34856;NIB1752;RH98487 DYRK5;RED;REDK;hYAK3-2 OTTHUMP00000034527;OTTHUMP00000034528;OTTHUMP00000034529;OTTHUMP00000034530;dual specificity tyrosine-phosphorylation-regulated kinase 3;dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5;protein kinase Dyrk3;regulatory erythroid kinase APPROVED protein-coding ENSG00000143479 3094 04607 603497 REVIEWED 1323814 DYRK2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008] 12 12 q15 66328779 66342711 + 68042512 68056444 + 1580863;6480464;6484113 11311121;9748265;17349958;19287380;16344560;16189514;15489334;15146197;12588975;12477932;14593110;22878263;18029348;19596956;19818968;19965871;18455992;23362280;21832049;22307329;22318606;16511445;22939624 8445 F5GXG1;F5H5L5;G8JLB4;Q92630 ABBA01026563;AC078777;AK024870;AK025018;AK313937;AMYH01004559;BC005809;BC006375;CH471054;CN303286;DA768075;DB461362;NM_003583;NM_006482;Y09216;Y13493 AAH05809;AAH06375;ADZ15936;BAG36656;CAA70418;CAA73885;EAW97176;EAW97177;NP_003574;NP_006473;Q92630 Hs.173135 1736230;1854405;2120963;2120965;2137709;2154516;2163878;2218528;5014671;5015525 A005S37;D12S1170E;D12S1545;DYRK2__4797;G20468;RH44483;STS-C14973;STS-R26535;STS-Y09216;WI-14800 FLJ21217;FLJ21365 OTTHUMP00000240070;OTTHUMP00000240071;dual specificity tyrosine-phosphorylation-regulated kinase 2 APPROVED protein-coding 3093 04606 603496 REVIEWED 1344571 DZIP1L DAZ interacting zinc finger protein 1-like 3 3 3 q22.3 136205489 136259231 - 139263522 139317141 - 137780827 137834451 - 737633;6480464 12477932 14702039;21832049;19852954;21890473;12511597 199221 C9JD19;C9JRW2;H7C4G2;Q8IYY4 ABBA01059096;ABBA01059097;AC023049;AI283643;AK057406;AMYH01013531;BC033308;BQ424578;CH471052;DR001616;NM_001170538;NM_173543 AAH33308;BAB71474;EAW79085;EAW79086;EAW79087;EAW79088;EAW79089;EAW79090;NP_001164009;NP_775814;Q8IYY4 Hs.351403 1657096 RH65751 DZIP2;FLJ32844 DAZ-interacting protein 1-like protein;OTTHUMP00000216627;OTTHUMP00000216628;zinc finger protein DZIP1L APPROVED protein-coding ENSG00000158163 26551 08145 VALIDATED 5491056 DYX1C1-CCPG1 DYX1C1-CCPG1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring dyslexia susceptibility 1 candidate 1 (DYX1C1) and cell cycle progression 1 (CCPG1) genes on chromosome 15. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 15 q 55647421 55790782 - 12477932;20967262 100533483 ABBA01039023;ABBA01039024;ABBA01039025;ABBA01039026;ABBA01039027;AC013355;AC018926;AC022083;AK295788;AMYH01006666;AMYH01006667;AMYH01006668;AMYH01006669;AMYH01006670;BC051725;NR_037923 BAG58609 Hs.285051 1649118;1666777;1668480;1736492;1795616 CPR8_1467;D15S700E;RH65629;SHGC-53386;WI-16128 FLJ60574 APPROVED miscrna 43019 VALIDATED 1346587 E11S ECHO virus (serotypes 4, 6, 11, 19) sensitivity 7240710 1878 3112 1322255 DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008] 2 2 p13.3 71534268 71767401 + 71680753 71913893 + 1598789;1580863;6480464;7240710 9731526 10196375;10496277;19380584;19326120;19309282;19286669;19221801;19084402;18853459;18832576;18641458;18495154;18464913;18396043;18306167;18294055;18276788;17897828;17868276;17828519;17825554;17698709;17554076;17363620;17287450;16996541;16934466;16896923;16797397;16608842;16606933;16344560;16100712;16087766;16010686;15835269;15827562;15535137;15477515;15469449;15318348;15221058;14749532;14678801;14560310;14512171;14506716;14506282;12836053;12664320;11532985;11468312;11198284;10196377;9731527;8012357;22297152;20558759;20544924;20574037;20413686;20595382;21412170;20724702;16862423;20535123;11959863;12477932;19228595;19253956;19493611;19545895;19594366;19834057;19929428;20082313;20373350;20379614;20618995;21119217;21173544;22720081;21280221;21658164;22037454;21556485;21522182;23558685;22043020;23185377;23243261;22110769;22174839;22194990;22318734;20301480;20301582;23519732;23516275;22736764;22505724 8291 Q0H395;Q8TCI0 ABBA01075553;ABBA01075554;ABBA01075555;ABBA01075556;AC010147;AC104084;AF075575;AI128455;AI192657;AI739271;AJ007973;AJ566204;AK074104;AK074442;AK074649;AK295004;AK303364;AK310739;AMYH01010428;AMYH01010429;BC038246;BC171803;CH471053;DB292971;DQ267935;EU515155;EU515156;EU515157;EU515158;EU515159;EU515160;EU515161;EU515162;EU515163;EU515164;EU515165;EU515166;HQ222984;NG_008694;NM_001130455;NM_001130976;NM_001130977;NM_001130978;NM_001130979;NM_001130980;NM_001130981;NM_001130982;NM_001130983;NM_001130984;NM_001130985;NM_001130986;NM_001130987;NM_003494 AAC63519;AAI72229;AAY14954;AAY24199;ABB89736;ACB12752;ACB12753;ACB12754;ACB12755;ACB12756;ACB12757;ACB12758;ACB12759;ACB12760;ACB12761;ACB12762;ACB12763;ADQ57464;BAB84930;BAB85086;BAG51981;BAH11947;BAH13950;CAA07800;CAD92859;EAW99763;EAW99764;EAW99765;NP_001123927;NP_001124448;NP_001124449;NP_001124450;NP_001124451;NP_001124452;NP_001124453;NP_001124454;NP_001124455;NP_001124456;NP_001124457;NP_001124458;NP_001124459;NP_003485;O75923 Hs.252180 1665200;1669952;1671952;1706178;1768495;1769499;2109263;2116156 A004Z44;DYSF_8789;RH12659;RH64958;SHGC-34247;SHGC-57586;SHGC-80615;WI-18239 FER1L1;FLJ00175;FLJ90168;LGMD2B;MMD1 OTTHUMP00000160176;OTTHUMP00000202233;OTTHUMP00000202234;OTTHUMP00000202235;OTTHUMP00000202236;OTTHUMP00000202237;OTTHUMP00000202238;OTTHUMP00000202240;OTTHUMP00000202241;OTTHUMP00000225471;OTTHUMP00000225494;dysferlin;dystrophy-associated fer-1-like 1;dystrophy-associated fer-1-like protein;fer-1-like protein 1 APPROVED protein-coding ENSG00000135636 3097 04307 253601;254130;603009;606768 REVIEWED 1351667 DYRK4 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 Dual-specificity kinases, such as DYRK4, play key roles in cell proliferation, survival, and development (Zhang et al., 2005 [PubMed 15607427]).[supplied by OMIM, Mar 2008] 12 12 12 p13.32 6321281 6345070 + 4569505 4593302 + 4699244 4723041 + 1580863;6480464 17292540;15607427;15489334;12477932;11062477;9748265;18029348;19953087;21127067 8798 B4DQW1;F5GWS4;F5H3D3;F5H4X6;F5H6L9;H0YFI4;Q9NR20 ABBA01048764;AC005832;AF263541;AK292322;AK298979;AK303744;AK308260;AK308702;AMYH01004197;BC031244;CH471116;GU139739;GU139740;GU139741;GU139742;GU139743;GU139744;GU139745;NM_003845;Y09305 AAF91393;AAH31244;ABM82446;ABM85636;ADC33153;ADC33154;ADC33155;ADC33156;ADC33157;BAF85011;BAG61073;BAG64716;CAA70488;EAW88841;EAW88842;NP_003836;Q9NR20 Hs.439530 1342155;1722665;1772775;1855271;2108041;2135835 A007I33;D12S1624;DYRK4_8858;G60416;RH15741;SHGC-17558 OTTHUMP00000238290;OTTHUMP00000238291;OTTHUMP00000238292;dual specificity tyrosine-phosphorylation-regulated kinase 4 APPROVED protein-coding ENSG00000010219 3095 10926 609181 PROVISIONAL 1322749 DZANK1 double zinc ribbon and ankyrin repeat domains 1 This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18438090 18521918 - 18312011 18395829 - 18364011 18447829 - 6480464 14702039;16713569;12477932;11780052;10431175;19322201 55184 A1L3Z8;C9J2A8;H7BY29;Q9H1E0 ABBA01054045;ABBA01054046;ABBA01054047;AK001462;AK026306;AK055544;AK131451;AK295073;AK299746;AL049646;AL121893;AL158176;AMYH01011743;BC036231;BC130341;BC144153;CH471133;CR749327;DC323828;DQ104738;NM_001099407 AAI30342;AAI44154;AAZ13595;BAA91706;BAB70949;BAD18596;BAH11962;BAH13117;CAH18182;EAX10242;EAX10243;EAX10244;EAX10245;EAX10246;NP_001092877;Q9NVP4 Hs.472225 1650991;2114018;5015619;5015961;5037552 AB052150;D11S3114;D15S1477;D8S2279;STS-L42230 ANKRD64;C20orf12;C20orf84;DKFZp781J2425;FLJ10600;FLJ30892;bA189K21.1;bA189K21.8;dJ568F9.2 OTTHUMP00000030355;OTTHUMP00000030357;ankyrin repeat domain 64;ankyrin repeat-containing protein C20orf12;double zinc ribbon and ankyrin repeat-containing protein 1 APPROVED protein-coding ENSG00000089091 15858 12742 VALIDATED 6481103 E2F3-IT1 E2F3 intronic transcript 1 (non-protein coding) 100874268 AL136303 miscrna 41329 1345418 E2F3P1 E2F transcription factor 3 pseudogene 1 17 17 17 q11-q12 30727163 30731540 + 30841037 30845609 + 33817024 33821400 + 8246996 1872 ABBA01011230;AC015911;AMYH01008354;NG_005634 1686370;1775262;2116428 RH17438;RH45318;WI-22629 pseudo 3116 INFERRED 1345561 E2F3P2 E2F transcription factor 3 pseudogene 2 2 q33-q35 196859081 196860351 - 8246996;8246996 100420003;1873 ABBA01062450;AC104600;AMYH01011382;NG_023648 pseudo 3117 INFERRED 1343869 DYX1C1 dyslexia susceptibility 1 candidate 1 This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011] 15 15 q21.3 53497245 53587724 - 55709953 55800432 - 1580863;6480464;7240710 19277710;19240663;19076634;19058789;18618141;18445785;17450541;17309662;15702132;15520411;15489334;15477871;15470369;15249932;14702039;12954984;12477932;8889548;22375924;22383464;20846247;21046216;20562859;16989952;15189447;19423554;19901951;20798984;21165691;21203818;21203819;22683091;21599957;22558177;23065966;23176554;23455924;23028439 161582 B4DY92;E5RJ13;Q8WXU2 ABBA01039021;ABBA01039022;ABBA01039023;ABBA01039024;ABBA01039025;AC013355;AC022083;AF337549;AK095201;AK302316;AMYH01006666;AMYH01006667;AMYH01006668;AMYH01006669;AMYH01006670;AMYH01006671;BC017392;BC062564;BM971229;CH471082;NG_021213;NM_001033559;NM_001033560;NM_130810 AAH62564;AAL73230;BAC04498;BAG63654;EAW77490;EAW77491;NP_001028731;NP_001028732;NP_570722;Q8WXU2 Hs.126403 1335559;1336839;1338535;1340891;1342033;1682662;1683621;1688096;1722287;1726519;1766713;5094202;7186143 D15S1049;D15S132;D15S143;D15S146;D15S994;G54607;G60057;G62640;RH64680;RH92020;RH94002;SHGC-149990 DYX1;DYXC1;EKN1;FLJ37882;MGC70618;RD OTTHUMP00000162853;OTTHUMP00000227803;OTTHUMP00000227804;dyslexia susceptibility 1 candidate gene 1 protein APPROVED protein-coding ENSG00000256061 21493 10568 127700;608706 REVIEWED 4109152 E2F4P1 E2F transcription factor 4, p107/p130-binding pseudogene 1 6 6 6 p21.2 41074866 41075989 + 39571018 39630697 + 39521593 39522716 + 100131899 ABBA01038314;AL035464;AMYH01016288;NG_022354 1298229;1685053;2156855 D6S2427;RH70934;STS-AA011442 pseudo 38684 INFERRED 1320122 E2F3 E2F transcription factor 3 This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 6 6 p22 20510377 20601921 + 20402137 20493945 + 1580863;6480464;6907045 19190782;18810376;18785023;18776222;18519660;18514338;18445275;18235226;18037967;17925491;17701752;17135249;16938365;16909110;16180235;16007192;15716352;15122326;14716298;14574404;12748276;12477932;12411495;11980909;11733001;17438371;8246996;10918599;10779352;10733529;9199321;9144196;8846921;8832394;8755520;8657141;7739537;7584044;10766737;15706352;15271987;15574337;11799066;15735762;11799067;17612494;19738611;19917728;20308562;16951254;21048031;20855524;21085677;15014447;20803551;21067862;20398657;23009996;22452920;23060449;8657117;16147992;22345517;22157815;19322201;22139708;22391204;22580460;22354972;19249677;23251661;17380128;10779353;11883935;15177020;15184867;15772702;16953223;18663357;19851314;20460525;20549700;20889924;21516127;21837779;22664654;22993445;9438389;9679057;23530192;19136625;22887716;22960857 1871 O00716 ABBA01022254;ABBA01022255;ABBA01022256;AF547386;AL132775;AL136303;AMYH01016134;BC016847;BC099908;BC114554;BU633769;CH471087;CR749285;D38550;NG_029591;NM_001243076;NM_001949;W38841;Y10479 AAH16847;AAH99908;AAI14555;AAI56368;AAI72526;AAN17846;BAA07553;CAA71504;CAH18140;EAW55421;EAW55422;EAW55423;NP_001230005;NP_001940;O00716 Hs.269408;Hs.703174 1686370;1689887;1775262;1788858;1794932;2116428;2140864;5110790 D6S1943;G67592;PMC85656P1;RH17438;RH25304;RH36412;RH45318;WI-22629 DKFZp686C18211;E2F-3;KIAA0075;MGC104598 OTTHUMP00000018012;transcription factor E2F3 APPROVED protein-coding ENSG00000112242 3115 02693 600427 REVIEWED 1317042 DZIP1 DAZ interacting zinc finger protein 1 13 13 13 q32.1 77078243 77144749 - 95028457 95094958 - 96230456 96296960 - 6480464 15081113;16344560;15489334;14702039;12511597;12477932;11991713;10231032;19852954;21878643 22873 B3KSP1;Q86YF9 AB023213;ABBA01027182;ABBA01027183;ABBA01027184;ABBA01027185;ABBA01027186;AF272347;AF272348;AF339791;AI470938;AK092363;AK094042;AK094990;AL049931;AL139376;AMYH01005305;BC011450;BC018744;BC037327;BC041804;BF981831;CH471085;DA782750;DR001764;NM_014934;NM_198968 AAH18744;AAH41804;AAL36978;AAL36979;BAA76840;BAG52803;CAB43211;EAX08956;EAX08957;EAX08958;NP_055749;NP_945319;Q86YF9 Hs.656580;Hs.742077 1339511;1684250;1689249;1700448;1705428;1736342;1738379;1753423;1758755;1772471;2129374;2141159;2150142;2161126;2173208;2217164;5021872;5022753;5491834 CLDN10;CLDN10_2929;D13S1156;D13S154;D13S654E;D13S846E;DZIP1;RH103845;RH13730;RH44774;RH71267;RH80102;RH99033;SHGC-107176;SHGC-3372;SHGC-83794;WI-15634;WI-22402;sY3084 DZIP;DZIPt1;KIAA0996;RP11-23E3.3 DAZ interacting protein testis1;DAZ-interacting protein 1/2;OTTHUMP00000018564;OTTHUMP00000018565;zinc finger DAZ interacting protein 1;zinc finger protein DZIP1;zinc-finger protein DZIPt1 APPROVED protein-coding ENSG00000134874 20908 16363 608671 VALIDATED 731057 E2F5 E2F transcription factor 5, p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 q21.2 86276871 86314005 + 86089619 86126753 + 1358139;1581726;1580863;737812;6480464;6907045 16325355;11030352 21274376;7760804;7892279;9190208;19259095;19124506;18385796;16172982;15342556;15146197;12860972;12789259;12150994;12089160;11756542;11319226;10783242;9464260;9144196;8589754;7958925;7958924;15271987;15735762;20639900;16360038;19615732;19738611;20181230;16951254;21048031;16600870;17531812;21906983;23377984 1875 C9JYE9;E5RHD4;H0YBK0;H0YBW8;Q15329 AB209185;ABBA01004010;ABBA01004011;ABBA01004012;AC011773;AI740797;AMYH01018834;AMYH01018835;AY162833;BM919591;BP224536;CH471068;CN312917;DB534924;HC250957;HC311146;NM_001083588;NM_001083589;NM_001951;U15642;U31556;X86097;Z78409 AAB00179;AAC50120;AAI56211;AAI72475;AAN46737;BAD92422;CAA60051;CAB01634;CBJ05776;CBJ21228;EAW87122;EAW87123;NP_001077057;NP_001077058;NP_001942;Q15329 Hs.445758 1776082;1797490;2125751;2156722;2180191;5022651;5123517 D11S2921;E2F5_2517;G31115;RH16329;RH47002;SGC35072;SHGC-35383 E2F-5 OTTHUMP00000227505;OTTHUMP00000227506;OTTHUMP00000227507;OTTHUMP00000227508;transcription factor E2F5 APPROVED protein-coding ENSG00000133740 3119 02983 600967 REVIEWED 1348982 E2F2 E2F transcription factor 2 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008] 1 1 p36 23705509 23730300 - 23832920 23857712 - 1580863;6480464;6907045 12477932;10766737;15574337;8246996;8657141;8246995;9190208;19142864;19074885;18345030;17916908;17588684;17341621;17135249;16710414;15716352;15489334;14702039;12566389;12502741;12411495;12145330;11733001;11719808;10965846;10727462;9694791;9688145;9144196;8846921;8832394;8755520;8657142;7739537;16169070;12748276;15949438;15861133;15706352;11799066;15735762;15017387;16360038;19690970;19738611;19748357;20226085;20855524;16951254;20819778;21048031;22344756;8657117;20418948;22999819;22125623;22531302;19322201;17380128 1870 Q14209;Q96ID7 ABBA01059875;AF086395;AF518877;AK092799;AK313939;AL021154;AMYH01000359;BC007609;BC053676;BT019523;CH471134;L22846;NM_004091 AAA16890;AAH07609;AAH53676;AAM54044;AAV38330;BAG36658;EAW95055;EAW95056;EAW95057;EAW95058;NP_004082;Q14209 Hs.194333 1336186;1664403;2130564;2165324;5109281;5117989 D1S1425;D1S482;GDB:636071;RH78295;SHGC-74380;SHGC-74381 E2F-2 OTTHUMP00000003257;transcription factor E2F2 APPROVED protein-coding ENSG00000007968 3114 02692 600426 REVIEWED 730923 E2F1 E2F transcription factor 1 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008] 20 20 q11.2 31727150 31737854 - 32263292 32274210 - 1580863;1300306;1300304;1300305;1300307;2316262;6480464;6907045 15146237;8653789;8653790;15124020;18768156 19895738;20962268;21293853;10199402;15731768;11418595;16360038;18029348;9190208;19576172;19541929;19523927;19453261;19406837;19391166;19360352;19303924;19289176;19276347;19188449;19115249;19088195;19077036;19064572;19041685;19034270;19031698;19022773;19015243;18840615;18836483;18813780;18806759;18794899;18751386;18722373;18695912;18687701;18660752;18660514;18649360;18644370;18562691;18524851;18521079;18503552;18459177;18391203;18381203;18366763;18358829;18348166;18345034;18345030;18328430;18302937;18235226;18172323;18172256;18167336;18056168;18039672;18026993;17913805;17910524;17908821;17881156;17825503;17786044;17707233;17704056;17692085;17690688;17686574;17641417;17638884;17638866;17630509;17597480;17570542;17566113;17550982;17535433;17471234;17471231;17452331;17360686;17341621;17328667;17178887;17135249;17127213;17081983;17062573;17050006;17012841;17011204;16984923;16972274;16918502;16916939;16912047;16892051;16775429;16717102;16652153;16620391;16596252;16582589;16580749;16512785;16510138;16481740;16476732;16434972;16407216;16394138;16374512;16299810;16264179;16211008;16188218;16186801;16170383;16114066;16107498;16052233;16037820;15944709;15917652;15735762;15716352;15713665;15647840;15574337;15517914;15517862;15489334;15485814;15481443;15467735;15381253;15371422;15361834;15313206;15306814;15279795;15187102;15169882;15140942;15123636;15121871;15118916;15073182;15044096;15024084;14997382;14739777;14681231;14645238;14637159;14593116;14576826;14576433;14576432;14555651;12965081;12947120;12947005;12809602;12789260;12766778;12717439;12697828;12679318;20871633;22482402;22836579;12674510;12532331;12511608;12501191;12477932;12450794;12389032;12149244;12118073;12095638;12082609;12077144;12065845;12036888;12032846;11939591;11884602;11780052;11763345;11759817;11739724;11733001;11583618;11559366;11486038;11459832;11331592;11314038;11162393;11151061;11042687;11034215;11034214;11032021;11005809;10965846;10888886;10850422;10725332;10619024;10597240;10559858;10547281;10523633;10428966;10321733;10022926;9780002;9708738;9689056;9525916;9501179;9422723;9418871;9368098;9368006;9244350;9199321;9181131;9125176;8964493;8932363;8896460;8846921;8816502;8755520;8618861;8413249;8405995;8170954;8087847;8033208;7969176;7958856;7958836;7838523;7474112;1638635;1638634;1448092;1411535;1388726;18162579;18367454;8657141;7739537;7892279;8657142;12397079;11470869;10869426;8230483;12411495;14500729;12065415;10734134;12748276;14638867;15949438;15674331;10766737;8246996;15619620;15271987;8816798;8816797;11799066;15706352;11799067;9632788;8346196;12646190;12629508;12607600;12598654;12588705;21310950;15766563;20187294;20215421;20233728;20413589;20421545;20623644;20411301;20680651;11268000;11278247;12963846;14627987;16249186;16616919;16774918;17006541;19176033;19409758;19477924;19491197;19597470;19603101;19629135;19703789;19738611;19759023;19763085;19783986;19833767;19837943;19841979;20026813;20029046;20040599;20106982;20123965;20226085;20421650;20423997;20510161;20447425;20685653;16758952;20603083;20664976;20713352;20855524;20410059;19893569;19960022;20354121;15494392;16357170;16766265;17111193;19826915;20538716;20585447;20729920;11839806;12097298;20837136;20952509;11245432;17612494;21320024;21484256;17980157;21225257;21085491;15485920;15670817;15964998;18216119;20948288;10409740;15141164;20971808;21099295;21454377;21479363;21454583;21106062;10207050;10393912;22871739;8255752;8626527;20037816;22344756;22771493;23028047;23064264;22832221;22349817;23152504;21283628;21283765;9223517;21367750;21453717;16924238;20237430;21512314;22492316;22644489;21532622;23543735;23196386;7958924;9400991;21629784;22782351;22848730;22880102;22955272;8657117;21653699;21573702;21788450;21752283;21799732;21454803;21602887;22159227;22302879;22327218;21789246;18445313;21880590;22216287;22318606;22496453;22508987;22629304;9553123;9724724;22564666;21656380;21768773;21966451;10499802;15837424;16648476;20039540;22450712;22580462;22184068;22298593;21743494;22078878;22136275;21878508;22310660;22480684;23237560;21955916;11090181;15876874;18754770;21589897;22476863;23212661;12096339;19249677;20195357;22825328;8832394;9704927;23542036;23583198;17380128;22768064;23001041;23108995;23352642;9315635;22952705 1869 Q01094;Q9BSD8 ABBA01019223;AF086380;AF516106;AL121906;AMYH01011856;BC005098;BC050369;BC058902;CH471077;CS542419;CS566134;GN346970;HI179088;M96577;NM_005225;S49592;S74230;U47675;U47677 AAA35782;AAB24289;AAC50719;AAD14150;AAH05098;AAH50369;AAH58902;AAM47604;CAM91159;CAN37617;CAY56011;CBX53852;EAW76299;EAW76300;NP_005216;Q01094 Hs.654393 1677134;1791808;1793880;1794672;1794920;2166965 PMC126057P4;PMC303366P5;PMC344741P1;PMC85083P1;RH78379;RH80228 E2F-1;RBAP1;RBBP3;RBP3 OTTHUMP00000030661;PBR3;PRB-binding protein E2F-1;RBAP-1;RBBP-3;retinoblastoma-associated protein 1;retinoblastoma-binding protein 3;transcription factor E2F1 APPROVED protein-coding ENSG00000101412 3113 01806 189971 REVIEWED 1602727 DZIP3 DAZ interacting zinc finger protein 3 3 3 3 q13.13 106705261 106810678 + 109791274 109896383 + 108308337 108413693 + 6480464 12538761;18206970;16713569;15489334;14702039;12511597;12477932;9734811;16344560;19549727;20562859;19389623;21903422;21139048;21890473;21906983;22493164;23000965;22053931 9666 C9J702;C9J9M8;C9JRX4;Q8IWI0 AB014575;ABBA01061702;ABBA01061703;AC092185;AC092693;AF279370;AK023138;AK023389;AK294967;AK297451;AK303942;AMYH01013382;AY227651;AY227652;AY227654;AY495710;BC012631;BC039018;BC056674;BC063882;BX495180;CH471052;CQ834634;DA494378;NM_014648 AAH39018;AAH56674;AAH63882;AAK69484;AAO72967;AAO72968;AAO72970;AAS75122;ACT64415;ACT64416;ADR82755;BAA31650;BAG51163;BAG58040;BAG59875;BAG64870;CAH05532;EAW79721;EAW79722;NP_055463;Q86Y13 Hs.409210 1730505;1784600;2109265;2112336;2163655;7184806 D3S4282;D3S587;DZIP3_8977;SHGC-111738;SHGC-64304 FLJ13327;FLJ57977;FLJ58022;FLJ58223;KIAA0675;PPP1R66;UURF2;hRUL138 DAZ-interacting protein 3;E3 ubiquitin-protein ligase DZIP3;OTTHUMP00000214428;OTTHUMP00000214430;RNA-binding ubiquitin ligase of 138 kDa;UURF2 ubiquitin ligase;human RNA-binding ubiquitin ligase of 138 kDa;protein phosphatase 1, regulatory subunit 66;zinc finger DAZ interacting protein 3 APPROVED protein-coding ENSG00000198919 30938 10562 608672 VALIDATED 6481422 EAF1-AS1 EAF1 antisense RNA 1 100873956 AC027125 APPROVED miscrna 42328 1323111 E2F4 E2F transcription factor 4, p107/p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008] 16 16 q21-q22 65783569 65790322 + 67226068 67232821 + 1580863;6480464;6907045 15706352;15525513;17671431;17121828;17043659;17001309;16135806;15964557;15489334;15231644;12860972;12789259;12757710;12477932;12198120;12150994;12148576;12110166;12096339;12055184;12006580;11759817;11602203;11573202;11158323;11025371;11012981;11005809;10867026;10797289;10679953;10540350;10208422;10090723;10082561;9724731;9688145;9271426;9244350;9144196;9074408;8657117;8643455;7958925;7958924;7892279;10869426;12411495;9891079;12748276;15861133;15782160;10766737;11799067;11799066;11418595;14532282;9190208;18660489;18368381;17957245;17908821;17656449;17531812;17507799;15271987;8816797;15735762;15017387;16360038;17159899;19473719;19562678;19738611;19955219;16951254;20211142;21048031;16758952;23093672;21347282;12867425;16357170;16776654;9858615;22475873;17612494;16600870;9380698;20855524;21789246;22318606;22508987;21906983;18239623;21988832;23007606;8832394;22357515;9199321;23060449 1874 H3BMP3;H3BTM3;H3BVE4;I3L1B6;Q16254 AB451292;AB451425;ABBA01025432;AC040160;AF250378;AF527540;AMYH01007745;BC021050;BC031071;BC033180;BU857680;CH471092;HI179032;NM_001950;S75174;U15641;X86096 AAB32597;AAC50119;AAF65226;AAH33180;AAM77918;ABM83729;BAG70106;BAG70239;CAA60050;CBX53825;EAW83094;EAW83095;EAW83096;NP_001941;Q16254 Hs.108371 1674246;1674248;1685053;1795720;2157393;5118103 A006F26;AF021111;E2F4_601;G20763;G64266;RH70934 E2F-4 p107/p130-binding protein;transcription factor E2F4 APPROVED protein-coding ENSG00000205250 3118 02806 600659 REVIEWED 1321054 E2F7 E2F transcription factor 7 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008] 12 12 q21.2 75939157 75983491 - 77415026 77459360 - 6480464 15133492;19240061;19223542;18202719;17353931;17200349;16344560;15897886;14702039;14633988;12893818;12477932;20819778;23096114;23184937;21248772;22802528;22802529 144455 F8VSE7;F8VXV5;H0YHW2;H0YIF4;Q96AV8 ABBA01053536;AC025161;AC079030;AI380315;AK023043;AK096316;AK097677;AMYH01004603;BC016658;BC017481;BC136366;BC136367;CH471054;DB159890;NM_203394 AAH16658;AAI36367;AAI36368;BAG53257;BAG53510;EAW97338;EAW97339;EAW97340;NP_976328;Q96AV8 Hs.416375 1714463;1764637;2109267 E2F7__7198;RH119742;SHGC-148227 FLJ12981 E2F-7;OTTHUMP00000242545;OTTHUMP00000242546;OTTHUMP00000242547;transcription factor E2F7 APPROVED protein-coding ENSG00000165891 23820 10929 612046 VALIDATED 1348626 E4F1 E4F transcription factor 1 The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. [provided by RefSeq, Jul 2008] 16 16 p13.3 2213568 2225744 + 2273567 2285743 + 1580863;6480464;6484113 16189514;14729613;9121437;10869426;17557114;17110336;16652157;15579445;12477932;12446718;10644996;9763670;9530632;8828041;8125298;10608806;15231748;12730668;14645522;21708927;21666599;15876874 1877 H3BN24;H3BQZ4;H3BSL4;H3BUJ7;Q66K89 AB209008;ABBA01030268;AC009065;AK225132;AK290329;AK296784;AMYH01007057;BC001713;BC014068;BC080524;BE245277;BF312518;CH471112;HI573882;NM_004424;U87269 AAD09139;AAH01713;AAH80524;BAD92245;BAF83018;BAG59362;CBX47430;EAW85531;EAW85532;EAW85533;NP_004415;Q66K89 Hs.513268;Hs.615283 1687113;2109271 E4F1_8318;RH91723 E4F;MGC99614 p120E4F;p50E4F;putative E3 ubiquitin-protein ligase E4F1;transcription factor E4F;transcription factor E4F1 APPROVED protein-coding ENSG00000167967 3121 04317 603022 REVIEWED 1605946 E2F8 E2F transcription factor 8 This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] 11 11 11 p15.1 19378036 19394995 - 19202186 19219083 - 19245610 19263202 - 6480464 18202719;16179649;15897886;15722552;23064264;21832049;14702039;12477932;8125298;20211142;20068156;19201609;16344560;8889548 79733 A0AVK6;E9PMT9 AB231781;ABBA01061038;AC009652;AK026964;AK055206;AK225338;AK292688;AMYH01003431;BC028244;BC090877;BC108700;BC126400;BC126402;BM972658;BU164108;BX504614;CB959621;CH471064;DA758300;NM_001256371;NM_001256372;NM_024680 A0AVK6;AAH28244;AAH90877;AAI08701;AAI26401;AAI26403;ADR83430;BAB15605;BAE46901;BAF85377;EAW68354;NP_001243300;NP_001243301;NP_078956 Hs.523526 1676952;1767188 G35282;RH74495 E2F-8;FLJ23311 E2F family member 8;OTTHUMP00000231893;OTTHUMP00000231894;transcription factor E2F8 APPROVED protein-coding ENSG00000129173 24727 10981 612047 VALIDATED 1605732 E2F6 E2F transcription factor 6 This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 2 2 p25.1 11501952 11523748 - 11584501 11606297 - 6480464 9501179;18562691;17908821;17600109;17001316;16344560;16107498;15815621;15574595;15536069;15489334;15474455;15081404;14702039;12909625;12477932;12004135;11171983;9704927;9689056;8125298;16189514;12411495;21658281;15960975;16565076;17468742;19738611;16951254;21048031;21832049;22318606;22325352;15257658;15470680;17096023;17878947;18579589;20890043;22802528;22981205;21139048;21549307;21596310;21906983;21988832;23082233 1876 B7Z1I8;F8WC40;F8WEZ5;G5E936;O75461;Q2Z196;Q2Z197 ABBA01015651;AC099344;AF041381;AF059292;AF088059;AJ493061;AK096197;AK223159;AK223407;AK290413;AK293504;AMYH01010113;AU132447;AU142999;AY083996;AY083997;AY551345;AY551346;AY551347;AY551348;AY551349;AY551350;AY551351;BC008348;BC062610;BC107740;BI772069;BQ447956;BU076470;CH471053;DA609616;NM_001278275;NM_001278276;NM_001278277;NM_001278278;NM_198256;NM_212540;NR_003092;NR_003093;NR_003094;NR_003095;NR_103490 AAC14694;AAC31426;AAH08348;AAI07741;AAM10783;AAM10784;AAM10785;AAT02635;AAT02636;AAT02637;AAT02638;AAT02639;AAT02640;AAT02641;AAY14826;BAD96879;BAD97127;BAF83102;BAG53228;BAH11524;CAD37950;CAD37951;CAD37952;EAX00931;EAX00932;EAX00933;EAX00934;EAX00935;EAX00936;NP_001265204;NP_001265205;NP_001265206;NP_001265207;NP_937987;NP_997705;O75461 Hs.603093 1335056;1688138;5112047;5113417 D2S1400;RH65047;RH65166;SHGC-62972 E2F-6;MGC111545 E2F transcription factor 6, isoform 1;OTTHUMP00000115674;transcription factor E2F6 APPROVED protein-coding ENSG00000169016 3120 04251 602944 REVIEWED 736664 EAF2 ELL associated factor 2 3 3 3 q13.33 119963909 120015222 + 123036724 123088063 + 121554034 121605373 + 634486;1580863;6480464 12907652 17395368;16114057;16006523;15489334;12761297;12477932;12446457;11042152;21483694;18029348;19826414;20379614;20161747 55840 B4DWJ3;F8WCI9;F8WF04;Q96CJ1 ABBA01016476;AC072031;AC119736;AF217516;AF517829;AK301560;AMYH01013425;AMYH01013426;AMYH01013427;AY049020;BC014209;BC014589;BU941228;CH471052;NM_018456 AAF67627;AAH14209;AAL12223;AAO63811;ABM83574;ABM86813;BAG63055;EAW79497;EAW79498;NP_060926;Q96CJ1 Hs.477325 1774637 D3S3425 BM040;TRAITS;U19 ELL-associated factor 2;OTTHUMP00000215243;OTTHUMP00000215245;testosterone regulated apoptosis inducer and tumor suppressor;testosterone-regulated apoptosis inducer and tumor suppressor protein protein-coding ENSG00000145088 23115 09634 607659 VALIDATED 1320738 EAF1 ELL associated factor 1 3 3 3 p25.1 15407296 15422352 + 15444068 15459124 + 15469064 15484120 + 6480464 17395368;17081983;16114057;16006523;15489334;14702039;12686606;12477932;11418481;20431927;20161747;16341674;21832049;19322201 85403 B4E3F5;F8WFA5;Q96JC9 AA626023;ABBA01025141;AC027125;AF272973;AK023217;AK304697;AK312330;AL698790;AMYH01013002;AW292089;BC029294;BC035167;BC041329;BI459315;BM836669;BM918150;BQ064584;CH471055;NM_033083 AAH41329;AAK58687;BAG65467;EAW64234;NP_149074;Q96JC9 Hs.716733 1683591;1788696;2112568;2112686;2157791 D3S4342;D3S4403;RH135807;RH45941;RH92973 ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1;ELL-associated factor 1;OTTHUMP00000160297 protein-coding ENSG00000144597 20907 12209 608315 VALIDATED 1604541 EARS2 glutamyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class-I aminoacyl-tRNA synthetase family and catalyzes the attachment of glutamate to tRNA(Glu). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 16 16 16 p12.2 22311508 22346870 - 23440835 23476197 - 23533334 23568696 - 6480464;6907045 10493829;16344560;15779907;14702039;12477932;11853319;19805282;20877624;18029348;21139048;21890473;22277967;22492562 124454 H3BPY3;H3BQI0;H3BQP8;H3BRF5;H3BTB7;I3L166;Q5JPH6 AB075850;ABBA01017063;ABBA01017064;ABBA01017065;ABBA01017066;AC002400;AF088053;AK095998;AL832489;AMYH01007382;BC020592;BC040013;BX648129;CA306283;CH471145;DA692403;NG_027752;NM_001083614;NR_003501 AAC05815;AAH40013;ACE86930;ACE87617;ADZ16051;BAB85556;BAG53194;CAI46121;EAW55821;EAW55822;EAW55823;EAW55824;EAW55825;NP_001077083;Q5JPH6 Hs.620541 1649608;1676099;1729811;2122748;2160257 D16S316;RH65293;RH65694;SHGC-57880;WI-11144 COXPD12;KIAA1970;MSE1 gluRS;glutamate tRNA ligase 2, mitochondrial;glutamate--tRNA ligase;glutamyl-tRNA synthetase 2, mitochondrial (putative);probable glutamate--tRNA ligase, mitochondrial;probable glutamyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000103356 29419 612799;614924 REVIEWED 1316400 EBAG9 estrogen receptor binding site associated, antigen, 9 This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013] 8 8 q23 110621105 110646568 + 110551929 110577392 + 1580863;2289846;2289847;2289850;2289852;2289854;2289856;2289857;2289858;2289849;2289851;2298489;6480464 17845206;17187007;16112719;15867365;15164121;12845666;12160478;11742495;16842844;16112176;12054692 10426319;19337974;19030177;18688918;18292826;18032910;17981616;17849467;17825484;17717421;17604121;17516841;17466050;17187008;17081983;22530960;16907986;16595162;16273616;16211275;16175077;16113565;16012715;15904507;15813909;15635093;15592455;15489334;15460847;15254686;15144186;14981953;14534714;14514780;12888828;12774924;12672804;12477932;12138241;11992411;11743045;11705872;11435298;11298137;10873660;9418891;8889548;15808510;22460085;17562271;18029348;19032612;19122463;19574770;19634109;19813143;20079734;20164540;20571277;19957811;20570965;20645939;21804460;21845402;19953087;17250817 9166 E9PJ38;E9PJ40;E9PN10;E9PND3;O00559;Q5Y8C7 AA812215;AB007619;ABBA01037714;AC079061;AF006265;AF264617;AI619447;AK290651;AK308950;AL515533;AMYH01018958;AP000427;AY515724;AY653072;BC005249;BC017729;BC022506;BG427211;BG616704;BG707115;BI194881;CA450508;CD108096;CH471060;CR456984;NM_001278938;NM_004215;NM_198120 AAB61617;AAH05249;AAH17729;AAH22506;AAR97974;AAU85838;ABM82390;ABM85568;BAA22572;BAF83340;CAG33265;EAW91932;EAW91933;EAW91934;NP_001265867;NP_004206;NP_936056;O00559 Hs.409368 1645161;1735766;1857260 D8S1373E;D8S1940;RH36617 EB9;PDAF;RCAS1 OTTHUMP00000229416;OTTHUMP00000230543;OTTHUMP00000230546;OTTHUMP00000230548;cancer associated surface antigen;cancer-associated surface antigen RCAS1;estrogen receptor-binding fragment-associated gene 9 protein;receptor-binding cancer antigen expressed on SiSo cells APPROVED protein-coding ENSG00000147654 3123 05775 605772 REVIEWED 1320061 EAPP E2F-associated phosphoprotein This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. [provided by RefSeq, Jul 2008] 14 14 14 q13.1 14850138 14873965 - 34054886 34078694 - 34985135 35008943 - 6480464 21258403;18029348;18588995;17081983;16713569;16189514;15820313;15716352;15489334;14702039;12477932;11042152;8125298;17207965;20360068;21963094;23542036;21890473;21906983;19322201 55837 G3V2W9;G3V5N6;Q56P03 ABBA01061460;ABBA01061461;ABBA01061462;AF217512;AK000585;AK225467;AK225477;AK225991;AL445363;AMYH01005655;AY157300;AY157301;AY869694;BC001245;CD702290;CH471078;NM_018453 AAF67623;AAH01245;AAO17041;AAO17042;AAX63200;ADQ31853;BAA91271;EAW65920;EAW65921;EAW65922;NP_060923;Q56P03 Hs.433269 1857408;2117906;2123267;2127313 D14S665E;D14S694E;D14S827;RH44760 BM036;C14orf11;FLJ20578;MGC4957 E2F-associated phosphoprotein;OTTHUMP00000244146;OTTHUMP00000245837 APPROVED protein-coding ENSG00000129518 19312 12631 609486 REVIEWED 5132975 EBLN1 endogenous Bornavirus-like nucleoprotein 1 10 10 10 p12.31 22185479 22186648 - 22537818 22538918 - 22497743 22498912 - 20054395;20686665 340900 P0CF75 ABBA01034483;AL157831;AMYH01002179;CH471072;NM_001199938 EAW86159;NP_001186867;P0CF75 Hs.450519 EBLN-1 endogenous Borna-like N element 1;endogenous Borna-like N element-1;endogenous Borna-like N element-containing protein 1;endogenous Bornavirus-like nucleoprotein 1 protein-coding ENSG00000223601 39430 613249 VALIDATED 1349579 EBF1 early B-cell factor 1 5 5 q34 158058006 158459347 - 158122923 158526788 - 1580863;6480464 8012110;14594818;17101802;16344560;16255771;16106032;15920012;15489334;14702039;14630787;12748286;12477932;12446759;12077253;11994467;10942392;9151733;8497258;8491377;8321284;7796816;20378664;20379614;20435627;20423929;20592035;20861858;21606506;16147992;21735360;21593590;21909110;21909115;22473956;23174882;23251661 1879 E5RFQ1;Q9UH73 ABBA01044243;ABBA01044244;ABBA01044245;ABBA01044246;ABBA01044247;ABBA01044248;ABBA01044249;ABBA01044250;AC008442;AC008640;AC134043;AC136424;AC140770;AF208502;AK096708;AK123757;AK289712;AK303698;AK304438;AMYH01015753;AMYH01015754;AMYH01015755;AMYH01015756;BC019927;BC038805;BC041178;BM802733;CH471062;DB231236;NM_024007 AAF19643;AAH38805;AAH41178;ABZ92384;ACE87804;ACE87815;ACT64463;ACT64537;ADR82697;BAF82401;BAG64684;BAG65260;EAW61580;EAW61581;EAW61582;NP_076870;Q9UH73 Hs.573143 1335462;1338897;1659954;1665951;1695470;1695602;1699924;1700454;1706722;1712729;1713303;1747879;1752391;1753053;1763867;1781022;1853770;2122227;2123119;2147123;2154105;2174328;2191471;5022729;5094971;7187611 A007K35;D21S1810;D5S1441;D5S2038;D5S2460;D5S412;EBF1;G66866;MARC_23656-23657:1029504842:1;RH103570;RH103848;RH120643;RH121062;RH48737;SHGC-106353;SHGC-147532;SHGC-68360;SHGC-68598;SHGC-78047;SHGC-80814;STS-T48161;TUDPEc277;WI-12566;WI-17761;bac5789T COE1;EBF;FLJ39389;FLJ41763;O/E-1;OLF1 Collier, Olf and EBF transcription factor 1;OE-1;OTTHUMP00000160817;OTTHUMP00000224200;OTTHUMP00000224217;early b-cell factor;olfactory neuronal transcription factor 1;transcription factor COE1 protein-coding ENSG00000164330 3126 01256 164343 VALIDATED 1347016 EBM epidermolysis bullosa, macular type 7240710 1881 1338569;1702770;7183717 DXS102;DXS998 3130 1625812 EBF4 early B-cell factor 4 EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008] 20 20 20 p13 2738001 2805248 + 2621524 2688754 + 2673524 2740754 + 6480464 12477932;12139918;11780052;10718198;22087225;21832049 57593 C9J6M4;E9PEI2;Q7Z5T1;Q9BQW3 AB037863;ABBA01053796;ABBA01053797;ABBA01053798;AL035460;AMYH01011669;BC010557;BC019106;BC037555;BC054347;BG750986;CH471133;NM_001110514 AAH19106;AAH54347;BAA92680;EAX10576;NP_001103984;Q9BQW3 Hs.471955 1337861;1697638;1779266;2134137;5127931 D20S842;RH102332;SHGC-152338;SHGC-153198;WI-4715 COE4;KIAA1442;O/E-4;RP5-860F19.3 EBF-4;OE-4;OTTHUMP00000030042;OTTHUMP00000221429;olf-1/EBF-like 4;transcription factor COE4 APPROVED protein-coding ENSG00000088881 29278 609935 PROVISIONAL 1346410 EBF3 early B-cell factor 3 This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011] 10 10 10 q26.3 125305470 125434003 - 131523537 131652081 - 131633496 131762091 - 634750;1580863;6480464 12355068 17353931;18559491;17018599;15164054;14702039;12477932;9151733;18845077;20029986;19996307;21387304;7566098 253738 H0Y3W9;Q9H4W6 AA330620;ABBA01009115;ABBA01009116;ABBA01009117;ABBA01009118;ABBA01009119;ABBA01009120;AK055710;AK097335;AK098025;AL354950;AL713797;AL832828;AMYH01003180;AMYH01003181;BC126130;BC130479;CH471066;NG_030038;NM_001005463 AAI26131;AAI30480;ADR83053;CAH56225;EAW49159;EAW49160;EAW49161;NP_001005463;Q9H4W6 Hs.591374 1695216;1725769;1754685;1782194;2116013;2152408;2166471;2181990 G62129;RH15737;RH47608;RH70721;SHGC-133039;SHGC-156134;SHGC-44559;SHGC-62923 COE3;EBF-3;O/E-2;OE-2 EBF-3;OE-2;OTTHUMP00000020742;OTTHUMP00000020743;olf-1/EBF-like 2;transcription factor COE3 APPROVED protein-coding ENSG00000108001 19087 16818 607407 REVIEWED 1345572 EBR3 epidermolysis bullosa 3, progressiva 7240710 1884 3136 1354209 EBR4 epidermolysis bullosa 4, pseudojunctional (intraepidermal) 1885 3137 1350056 EBS1 epidermolysis bullosa simplex 1 (Ogna) 7240710 3138 131950;226670;612138;613723 1349413 EBVM1 Epstein Barr virus modification site 1 2843323;14526168 1887 3142 1350687 EBVS1 Epstein Barr virus insertion site 1 7240710 6095452 1888 K02579 3143 132850 1342653 ECA1 epilepsy, childhood absence 1 7240710 50966 1334527;1338029;1338580 D8S1761;D8S502;D8S537 3144 1602876 EBLN2 endogenous Bornavirus-like nucleoprotein 2 3 3 3 p13 73044973 73046651 + 73193500 73195178 + 73110810 73112488 + 6480464 17353931;14702039;12477932;20054395;20686665 55096 Q6P2I7 ABBA01030959;AC103559;AK001075;AMYH01013281;AY036895;BC051316;BC064501;NM_018029 AAH51316;AAH64501;AAK83528;BAA91494;NP_060499;Q6P2I7 Hs.658858 2149822 SHGC-77110 EBLN-2;FLJ10213 EBLN-1;OTTHUMP00000231448;endogenous Borna-like N element 2;endogenous Borna-like N element-1;endogenous Borna-like N element-2;endogenous Bornavirus-like nucleoprotein 2 APPROVED protein-coding ENSG00000255423 25493 07654 613250 PROVISIONAL 1353395 EBI3 Epstein-Barr virus induced 3 This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008] 19 19 p13.3 4180540 4188525 + 4229540 4237525 + 5128488;6480464;6484113 21255010 22343630;9342359;14743498;8551575;19556516;18784808;18336908;18167155;16189514;15489334;15231748;15170639;15057824;12477932;12121660;934235;21931777;21285006;22836044 10148 Q14213 ABBA01056081;AC005578;AMYH01009329;BC015364;BC046112;CH471139;HH821931;HH821932;L08187;NM_005755 AAA93193;AAC33488;AAH15364;AAH46112;ABM82515;ABW03382;CBX32665;CBX32666;EAW69244;EAW69245;NP_005746;Q14213 Hs.501452 1712082;2131779;2177878 D19S988;G54090;STS-L08187 IL-27B;IL27B EBV-induced gene 3 protein;Epstein-Barr virus induced gene 3;IL-27 subunit beta;IL27 subunit;IL35 subunit;cytokine receptor;epstein-Barr virus-induced gene 3 protein;interleukin-27 subunit beta APPROVED protein-coding ENSG00000105246 3129 12051 605816 REVIEWED 1321920 EBF2 early B-cell factor 2 The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011] 8 8 8 p21.2 24663002 24864217 - 25757490 25958309 - 25699246 25902640 - 1580863;6480464 15489334;14702039;12477932;12139918;9151732;9151733;16421571;16344560;19913121;20628086;20734064;19671856;20379614;16368877 64641 B2RNT0;B7Z934;F5H645;Q9HAK2 ABBA01005565;AC023566;AC090103;AI457889;AK001144;AK021562;AK093878;AK304372;AL701879;AMYH01018585;AMYH01018586;AMYH01018587;AU120738;AY700779;BC069665;BC069726;BC069747;BC069768;BC074794;BC113478;BC113504;BC137106;BC137107;BQ878633;BY798905;NG_030344;NM_022659 AAH69665;AAH69726;AAH69747;AAH69768;AAH74794;AAI13479;AAI13505;AAI37107;AAI37108;AAI48639;AAU10086;BAB13843;BAH14170;NP_073150;Q9HAK2 Hs.491292 1757833;1758001;1758187;1759995;1771028;1779410;1786572;1786694;2150593;2219788 D8S2100;EBF2__6165;SHGC-105000;SHGC-132170;SHGC-146658;SHGC-147075;SHGC-147617;SHGC-153401;SHGC-154399;STS-T69732 COE2;EBF-2;FLJ11500;O/E-3;OE-3 Collier, Olf and EBF 2;OLF-1/EBF-LIKE 3;OTTHUMP00000225118;OTTHUMP00000225119;metencephalon-mesencephalnon-olfactory transcription factor 1;transcription factor COE2 APPROVED protein-coding ENSG00000221818 19090 16848 609934 REVIEWED 1354214 ECEL1P1 endothelin converting enzyme-like 1, pseudogene 1 11352565 260331 14017 1312086 EBPL emopamil binding protein-like 13 13 13 q12-q13 31289746 31320576 - 49132863 49163612 - 50234810 50265623 - 1580863;6480464 16806233;15489334;12760743;12477932;16368877;21988832 84650 Q6GPH7;Q9BY08 AA677833;ABBA01051022;ABBA01051023;AF243433;AL135901;AMYH01005110;BC018478;BC021021;BC073152;BC092471;BY799168;CA437822;CH471075;HH961778;NM_001278636;NM_032565;NR_103802;NR_103803 AAH18478;AAH73152;AAH92471;AAK28348;ABM82447;ABM85637;CBX51362;EAX08832;EAX08833;EAX08834;EAX08835;EAX08836;NP_001265565;NP_115954;Q9BY08 Hs.433278 1772808 WI-17526 EBRP;RP11-432M24.2 OTTHUMP00000018422;OTTHUMP00000018423;emopamil binding related protein, delta8-delta7 sterol isomerase related protein;emopamil-binding protein-like;emopamil-binding-related protein protein-coding ENSG00000123179 18061 13258 VALIDATED 1343538 ECEL1P3 endothelin converting enzyme-like 1, pseudogene 3 2 2 2 q37.1 226980000 226980237 - 232924079 232924316 - 233215835 233216072 - 11352565;10698686 260332 ABBA01002021;AC068134;AJ250423;AMYH01011570;NG_002700 pseudo 14018 INFERRED 1345811 EBP emopamil binding protein (sterol isomerase) The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008] X X p11.23-p11.22 48265201 48272048 + 48380164 48387104 + 734908;1580863;2316868;2316857;6480464;7240710 10391218;12668600;16876788 18573709;17949453;7706302;10391219;18660489;16344560;15772651;15489334;12760743;12569389;12483303;12477932;17498944;17378690;11493318;10942423;9894009;8938429;22121851;18029348;21832049;21103663;21931045;15604093;19322201;21139048;21906983;20301468;21634086;21963094;21988832 10682 C9J719;C9JJ78;Q15125 ABBA01046010;ABBA01046011;ABBA01046012;ABBA01046013;AF196972;AMYH01022290;AU128761;BC001549;BC001572;BC046501;CA488777;CH471224;CR456815;CR542094;NG_007452;NM_006579;Z37986 AAH01549;AAH01572;AAH46501;ABM82517;ABM85711;ABM85712;CAA86068;CAG33096;CAG46891;EAW50773;EAW50774;EAW50775;NP_006570;Q15125 Hs.30619 1660377;1660379;1668114;1682620;1702714;1771285;2109273;2133049;2152686;2217798 DXS7465E;EBP_9167;PORCN_3674;RH16246;RH17606;RH36014;RH46098;RH93495;SGC38390;SHGC-34488 CDPX2;CHO2;CPX;CPXD 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase;3-beta-hydroxysteroid-delta-8,delta-7-isomerase;Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome);D8-D7 sterol isomerase;OTTHUMP00000032393;OTTHUMP00000070508;OTTHUMP00000070509;cholestenol Delta-isomerase;delta(8)-Delta(7) sterol isomerase;emopamil-binding protein (sterol isomerase);sterol 8-isomerase APPROVED protein-coding 3133 02192 300205;302960 REVIEWED 1313990 EBNA1BP2 EBNA1 binding protein 2 1 1 p35-p33 43402442 43410518 - 43629845 43638241 - 1580863;6480464 17353931;7596406;19170763;18959818;16341674;15923612;15489334;15146197;12768013;12477932;11790298;11438656;11327720;10849420;10074103;8125298;7757816;2879624;18954305;21145461;18029348;22990118;22939629;12777385;20360068;21903422;22345443;22586326;21220517;21628590;22178446;21139048;21890473;21906983;21907836;21963094;22797925;22944692 10969 H7C2Q8;Q6IB29;Q99848 AB451256;AB451381;ABBA01050962;AK223455;AK295006;AK299476;AK307440;AL139138;AMYH01000557;BC009175;BC073924;BM791254;BT006920;CH471059;CN390915;CR456975;NM_001159936;NM_006824;R49106;U86602;Z40246 AAB46731;AAH09175;AAP35566;BAD97175;BAG58067;BAG61440;BAG70070;BAG70195;CAG33256;EAX07112;EAX07113;EAX07114;EAX07115;NP_001153408;NP_006815;Q99848 Hs.346868 1849613;2117460;2135659 D1S1758E;D1S1882E;RH11774 EBP2;NOBP;P40 EBNA1-binding protein 2;OTTHUMP00000008354;nuclear FGF3 binding protein;nucleolar protein p40;nucleolar protein p40; homolog of yeast EBNA1-binding protein;probable rRNA-processing protein EBP2 protein-coding ENSG00000117395 15531 16849 614443 VALIDATED 1349338 ECE2 endothelin converting enzyme 2 Endothelin-converting enzymes, such as ECE2 (EC 3.4.24.71), are type II metalloproteases that generate functionally pleiotropic members of the endothelin vasoactive peptide family (Lorenzo et al., 2001 [PubMed 11718899]).[supplied by OMIM, Mar 2008] 3 3 q27.1 185450139 185493513 + 183967445 184010819 + 1580863;6480464 11718899;19541930;19089949;17188679;16567585;12975309;12477932;11181995;11078322;9628581;19626040;17545092;17207965;20807771;21102462;23314748;22027013;22472876 9718 F8WCL9;H0Y5G8;O60344 AB011176;ABBA01058450;ABBA01058451;ABBA01058452;AC061705;AC078797;AF192531;AF428263;AF428264;AF521189;AK293713;AK293891;AK295270;AK296541;AK309236;AMYH01013714;AMYH01013715;AMYH01013716;AMYH01013717;AY359003;BC005835;BC012449;BC069005;BC142950;BU568980;CH471052;NM_001037324;NM_001100120;NM_001100121;NM_014693;NM_032331 AAG28399;AAH05835;AAH12449;AAH69005;AAI42951;AAI46831;AAL30386;AAL30387;AAM77664;AAQ89362;ADQ32839;BAA25530;BAG57280;BAG58256;BAG59165;BAH11577;EAW78273;EAW78274;EAW78275;EAW78276;EAW78277;EAW78278;EAW78279;NP_001032401;NP_001093590;NP_001093591;NP_055508;NP_115707;O60344 Hs.146161 1771576;2112582;2169422;5123568 D3S2399;D3S4350;RH12612;SHGC-77617 KIAA0604;MGC17664;MGC2408;MGC78487 ECE-2;OTTHUMP00000197815;OTTHUMP00000197816;OTTHUMP00000197817;OTTHUMP00000197818;OTTHUMP00000210688;OTTHUMP00000210689;endothelin-converting enzyme 2 APPROVED protein-coding ENSG00000145194 13275 09931 610145 VALIDATED 1343097 ECEL1P2 endothelin converting enzyme-like 1, pseudogene 2 2 2 2 q37.1 227014669 227015963 - 232958704 232959998 - 233250460 233251754 - 12477932;11352565;10698686 347694 ABBA01002021;AC068134;AJ250424;AMYH01011570;BC067110;NR_028501 Hs.452575 ECEL2 pseudo ENSG00000244280 14019 VALIDATED 731078 ECEL1 endothelin converting enzyme-like 1 This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. This gene is expressed specifically in the central nervous system and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227108836 227116836 - 233052781 233060776 - 233344537 233352532 - 632557;734911;1580863;6480464 9931490;10400672 18192274;15815621;15489334;14992683;12975309;12632073;12477932;11352565;10698686;23261301 9427 H7C3M0;O95672 AB030579;AB073895;ABBA01002020;AC092165;AF307337;AJ130734;AMYH01011571;AY358923;BC050453;BM564570;CH471063;DQ114476;NM_004826;Y16187 AAH50453;AAQ89282;AAY24101;AAZ22338;BAC66225;CAA76113;CAB86601;EAW70999;EAW71000;NP_004817;O95672 Hs.26880 1699052 RH103101 DA5D;DINE;ECEX;XCE OTTHUMP00000164361;OTTHUMP00000203712;X converting enzyme;damage induced neuronal endopeptidase;endothelin-converting enzyme-like 1 APPROVED protein-coding ENSG00000171551 3147 07066 605896;615065 VALIDATED 1351756 ECHDC3 enoyl CoA hydratase domain containing 3 10 10 10 p14 11712956 11734651 + 11824362 11846071 + 11784356 11806065 + 737633;6480464 12477932 15342556;8125298;20877624 79746 Q5W0J6;Q5W0J8;Q96DC8 ABBA01034683;AF275677;AF289604;AK024562;AK222511;AK290902;AL138898;AMYH01002029;BC001091;BC009617;BP332406;CH471072;NM_024693 AAG24387;AAH01091;AAH09617;AAL55788;BAB14928;BAD96231;BAF83591;EAW86340;EAW86341;EAW86342;NP_078969;Q96DC8 Hs.22242 1662878;1679039;1684246;1720047;5022578 D1S1423;RH123820;RH41844;RH98611;SHGC-30300 FLJ20909 OTTHUMP00000019084;OTTHUMP00000019085;OTTHUMP00000019086;enoyl Coenzyme A hydratase domain containing 3;enoyl-CoA hydratase domain-containing protein 3, mitochondrial APPROVED protein-coding ENSG00000134463 23489 10930 VALIDATED 1604642 ECD ecdysoneless homolog (Drosophila) 10 10 10 q22.3 68179951 68213480 - 74564289 74597823 - 74894282 74927853 - 6480464 9928932;17081983;16344560;16341674;15489334;15128659;14702039;12477932;8125298;16385451;19919181;20211142;21163940;22939629;20360068;21139048;21890473;21906983;22113445;21963094;22977192;22270930;22797925 11319 C9J316;C9JGV1;F2Z2R1;O95905 ABBA01020333;ABBA01020334;ABBA01020335;ABBA01020336;AC016394;AK022616;AK225519;AK315711;AMYH01002827;BC000721;BC103720;BM763002;CH471083;CR457407;D88208;DA162516;NM_001135752;NM_001135753;NM_007265;NR_024203 AAH00721;ABM83098;ABM86292;BAA75199;BAG51097;CAG33688;EAW54477;EAW54478;NP_001129224;NP_001129225;NP_009196;O95905 Hs.631822 1681750 RH93350 GCR2;HSGT1 OTTHUMP00000019795;protein SGT1;protein ecdysoneless homolog;suppressor of GCR2;suppressor of S. cerevisiae gcr2 protein-coding ENSG00000122882 17029 11032 VALIDATED 731823 ECE1 endothelin converting enzyme 1 The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009] 1 1 p36.1 21418939 21489494 - 21543740 21672034 - 1580902;1580904;734909;1580906;1580908;1580909;1580910;1580911;1580912;734910;1581735;1580863;735003;6480464;7240710;7243876;7244168;7244242;7243952;7243939;7243946;4892572;7244165;7244160;7244170;7243858;4892580;7244182;7244244;7244180;7244185;7244172;7244179 15340356;15126915;9915973;16741001;15485550;10973835;11893909;11145756;9607404;9649553;15733912;9449665;19596829;8994440;12972712;16170464;18767389;18385664;19371338;10401760;12193087;8575076;23600389;18586023;10894793;9595392;11043448;10073607;14627492;11078391 10833511;10438732;9396733;22416137;17295044;17264805;17081983;16986361;16710414;16698938;16567585;16531800;16526315;16344560;16289162;16263699;16234608;16023075;15665524;15489334;15342556;15240857;15146197;15010576;14597855;12609744;12477932;12464614;12393864;12244060;12011762;11906289;11723113;7864876;7805846;18039931;18029348;9710124;9449382;19289136;19222484;18992253;18974277;18781169;18660489;18334739;17977716;17761169;17712175;17701914;17664854;17618613;17592116;10620363;10491078;9595387;9253714;8889548;8641140;8530372;7695628;19913121;20485444;20628086;19531493;19889475;20037208;20346360;8062389;17545092;20663017;20558134;20725143;20345647;20538960;22972025;21851036;22939629;23175834;21139048;21906983;22027013;21554123;22322595;21777246;22731820;22728136;23283972;22693153;23251661;23022525 1889 B4DKB2;E9PHZ1;E9PJG1;E9PN99;Q5THM7 AB031742;ABBA01059805;ABBA01059806;AF018034;AJ130828;AK290656;AK296486;AK304167;AK309677;AL031005;AL031728;AMYH01000330;AMYH01000331;AY953519;BC023596;BC041647;BC063506;BC106022;BC117256;BC126257;BP234532;BP337331;BU733112;BX648351;CH471134;CN298523;CN298525;D43698;D49471;DA436879;DA445355;DA445401;DB290492;NG_013008;NM_001113347;NM_001113348;NM_001113349;NM_001397;X91922;X91923;X98272;Z35307 AAD21221;AAI17257;AAI26258;AAX35820;ADR83113;BAA07800;BAA08442;BAA83687;BAF83345;BAG59124;BAG65053;CAA63015;CAA63016;CAA66922;CAA84548;CAB46443;EAW94957;EAW94958;EAW94959;EAW94960;EAW94961;EAW94962;EAW94963;EAW94964;EAW94965;EAW94966;NP_001106818;NP_001106819;NP_001106820;NP_001388;P42892 Hs.195080 1338217;1644544;1644603;1690908;1733004;1733010;1733028;1738291;2126811;2191757;7183837 D1S1373;D1S1376;D1S1387;D1S478;D1S56;MARC_7137-7138:996687538:1;RH11;RH91799;SHGC-30327;SHGC-74323 ECE ECE-1;OTTHUMP00000002724;OTTHUMP00000002725;OTTHUMP00000002726;OTTHUMP00000002727;OTTHUMP00000235323;endothelin-converting enzyme 1 APPROVED protein-coding ENSG00000117298 3146 02690 145500;600423;613870 REVIEWED 1349844 ECHDC2 enoyl CoA hydratase domain containing 2 1 1 1 p32.3 51649717 51675255 - 53134492 53160034 - 53361582 53387446 - 1580863;6480464 14702039;12477932;17207965;17137291;16344560;8889548;21832049 55268 B4DSN9;B7Z7N0;F5GWU3;F5H0R2;F5H2K9;F5H408;F5H4W3;Q86YB7 AA946561;ABBA01074752;ABBA01074753;AC099677;AF258590;AK001810;AK299834;AK300896;AK302285;AK307381;AK309535;AK310650;AK315906;AL832874;AMYH01000624;BC038389;BC040480;BC044574;BC051887;BX647186;BX648522;CF127686;CH471059;DA868944;NM_001198961;NM_001198962;NM_018281 AAG23793;AAH44574;AAH51887;ADQ32500;BAA91922;BAG61701;BAG62535;BAH13666;BAH14277;EAX06763;EAX06764;EAX06765;EAX06766;EAX06767;EAX06768;NP_001185890;NP_001185891;NP_060751;Q86YB7 Hs.476319 1657730;1846735;1854346;2116424;2119856;2178888;5015961;5020948;5021872;5022651;5024685;5037552;5093452 A007G48;A009P08;D11S2921;D15S1477;D1S3282;D8S2279;G32726;G35510;RH26813;RH70125;SGC34495;SHGC-54232;sY3084 DKFZp686F0985;DKFZp686K13244;FLJ10948;FLJ45240;FLJ51075;FLJ52213;FLJ52450;FLJ78805;FLJ99576;MGC57155 OTTHUMP00000010482;OTTHUMP00000010483;OTTHUMP00000010484;OTTHUMP00000238578;enoyl Coenzyme A hydratase domain containing 2;enoyl-CoA hydratase domain-containing protein 2, mitochondrial APPROVED protein-coding ENSG00000121310 23408 07718 VALIDATED 732278 ECH1 enoyl CoA hydratase 1, peroxisomal This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 36108519 36124956 - 43997902 44014337 - 39306062 39322497 - 68827;1300048;1580863;6480464 7558027 15383276;17081983;16615866;15489334;14500732;12477932;9417087;16169070;16482509;18029348;20877624;21832049;22939629;20186120;21081666;21139048;21890473;21906983;20178365;21565611;21988832;22002062;17676665 1891 M0QXS7;M0QZF6;M0QZW4;M0QZX8;M0R1A2;M0R248;M0R280;Q13011 ABBA01040702;ABBA01040703;ABBA01040704;AC008982;AC104534;AF030249;AK126566;AK291860;AK301211;AMYH01009787;AMYH01009788;AV738478;BC011792;BC014786;BC017408;BG527600;CH471126;NM_001398;U16660 AAB86485;AAC50222;AAH11792;AAH17408;ABM83852;ABM87174;BAF84549;BAG62786;EAW56821;EAW56822;EAW56823;EAW56824;EAW56825;NP_001389;Q13011 Hs.196176 2161026 D1S3539 HPXEL delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial;delta3,5-delta2,4-dienoyl-CoA isomerase;dienoyl-CoA isomerase;enoyl Coenzyme A hydratase 1, peroxisomal;enoyl coenzyme a hydratase 1;peroxisomal enoyl-CoA hydratase 1 APPROVED protein-coding ENSG00000104823 3149 02825 600696 REVIEWED 1346197 ECHDC1 enoyl CoA hydratase domain containing 1 6 6 6 q22.33 128352141 128407019 - 127651550 127706447 - 127609857 127664754 - 1580863;6480464 21832049;18326623;16344560;15489334;14702039;14574404;12477932;8889548;19517271;19789366;20407466;17207965;22016388;21890473;21906983 55862 E9PIU8;E9PJS8;E9PLY6;E9PPG7;E9PRU6;F2Z2D6;H0Y525;H0Y5L2;H0YCS9;H0YD54;J3KP84;Q5TEG0 ABBA01025935;AF220192;AK021464;AK025760;AK025796;AK098146;AK303812;AL109939;AL834469;AMYH01016654;BC003549;BE896631;BQ224769;BU684175;CH471051;DA846978;DC297239;NM_001002030;NM_001105544;NM_001105545;NM_001139510;NM_018479 AAF67657;AAH03549;ACE86706;ACE87391;ADQ31866;BAH14056;CAD39128;EAW48101;EAW48102;EAW48103;EAW48104;EAW48105;EAW48106;EAW48107;EAW48108;NP_001002030;NP_001099014;NP_001099015;NP_001132982;NP_060949;Q9NTX5 Hs.486410 1673411;1677692;1684930;2124210;2164045 G31476;RH45158;RH67929;RH81056;SHGC-36270 DKFZp762M1110;FLJ40827;MMCD;dJ351K20.2 OTTHUMP00000017166;OTTHUMP00000017167;OTTHUMP00000017168;OTTHUMP00000017169;OTTHUMP00000017170;OTTHUMP00000017171;OTTHUMP00000017172;OTTHUMP00000017173;OTTHUMP00000232069;OTTHUMP00000232070;OTTHUMP00000232071;enoyl Coenzyme A hydratase domain containing 1;enoyl-CoA hydratase domain-containing protein 1;ethylmalonyl-CoA decarboxylase;methylmalonyl-CoA decarboxylase APPROVED protein-coding ENSG00000093144 21489 13260 612136 VALIDATED 1352961 ECI1 enoyl-CoA delta isomerase 1 This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] 16 16 16 p13.3 2504294 2516030 - 2229897 2241604 - 2289873 2301602 - 1580863;6480464 7829074;15489334;15351645;12477932;12107413;8198519;7818490;21832049;22939629;20186120;18781797;21139048;21890473;21906983;21917952 1632 H3BS70;P42126;Q96DC0 ABBA01030267;ABBA01030268;AC009065;AK291127;AMYH01007057;BC000762;BC002746;BC009631;BC019316;BC020228;BQ773923;CD675473;CH471112;L24774;NM_001178029;NM_001919;Z25820;Z25821;Z25822;Z25823;Z25824 AAA35485;AAH00762;AAH02746;AAH09631;AAH19316;AAH20228;BAF83816;CAA81065;CAA81066;EAW85523;EAW85524;EAW85525;NP_001171500;NP_001910;P42126 Hs.403436 1677480;1688588;1744203;1768846;2130645 GDB:437132;RH69048;RH71312;RH78468;SHGC-67834 DCI 3,2 trans-enoyl-CoA isomerase;3,2 trans-enoyl-Coenzyme A isomerase;3,2-trans-enoyl-CoA isomerase;3,2-trans-enoyl-CoA isomerase, mitochondrial;D3,D2-enoyl-CoA isomerase;OTTHUMP00000159049;acetylene-allene isomerase;delta(3),Delta(2)-enoyl-CoA isomerase;delta3, delta2-enoyl-CoA isomerase;dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase);dodecenoyl-CoA isomerase;dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase);enoyl-CoA delta isomerase 1, mitochondrial APPROVED protein-coding ENSG00000167969 2703 02628 600305 REVIEWED 734312 ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008] 10 10 q26.2-q26.3 135025980 135036898 - 135175987 135186908 - 1300048;1580863;2317616;6480464;6907045 12379132 13295248;9073515;17353931;16130169;17395278;15489334;15164054;12477932;12358155;11271497;8012501;7669045;1988037;1602151;1286669;16169070;19913121;20628086;14557246;18029348;20877624;20562859;22863883;21800051;18624398;21139048;21890473;21906983;21988832;23000965;23178449;23416296;23275097 1892 P30084 ABBA01006213;ABBA01006214;ABBA01006215;AL360181;AMYH01003237;AMYH01003238;BC008906;BC013264;BE906357;BI091611;BQ130816;BT007123;CH471211;D13900;NM_004092;X98126;X98129 AAH08906;AAP35787;BAA03001;CAA66808;EAW61339;NP_004083;P30084 Hs.76394 1335572;1655811;1672671;1712196;1722949;1736004 D10S1291E;D10S1700;D10S2290;G54149;G60572;RH67939 SCEH OTTHUMP00000020811;enoyl Coenzyme A hydratase, short chain, 1, mitochondrial;enoyl-CoA hydratase 1;enoyl-CoA hydratase, mitochondrial;short-chain enoyl-CoA hydratase APPROVED protein-coding ENSG00000127884 3151 03799 602292 REVIEWED 1605731 ECM1 extracellular matrix protein 1 This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 1 1 q21 148747207 148752660 + 150480487 150486265 + 6480464;7240710 12761501;9367673;19275936;19230975;19219685;19068216;18443958;18438406;18200062;17927570;17721643;16713569;16512877;16344560;16335952;16274456;14702039;14550953;12603844;12477932;11929856;10733679;9501329;601588;21349189;20870722;20805453;11165938;11292659;12604605;15990087;19519837;19521735;19734986;19861958;20014019;16646403;21791056;21139048;21128013;22489696;21988832 1893 Q8IZ60 ABBA01049347;AK097046;AK097205;AK292435;AK301369;AK302279;AK316390;AL356356;AMYH01001377;BC023505;CA413352;CH471121;DA963826;NG_012062;NM_001202858;NM_004425;NM_022664;U65932;U65938;U68186;U68187 AAB05933;AAB05934;AAB88081;AAB88082;AAH23505;ABM83937;ABM87256;BAF85124;BAG53412;BAG62911;BAG63622;BAH14761;EAW53544;EAW53545;EAW53546;EAW53547;NP_001189787;NP_004416;NP_073155;Q16610 Hs.81071 5021211 RH71248 URBWD OTTHUMP00000014932;OTTHUMP00000014933;OTTHUMP00000014934;extracellular matrix protein 1;secretory component p85 APPROVED protein-coding ENSG00000143369 3153 03727 247100;602201 REVIEWED 1607074 ECI2 enoyl-CoA delta isomerase 2 This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] 6 6 6 p24.3 5344491 5364393 - 4060926 4080830 - 4115927 4135831 - 6480464 10419495;15489334;15217832;14702039;14574404;12477932;12097419;11916962;11337467;11256614;11230166;10508479;10354522;8125298;22261722;18029348;19615732;19834535;8889548;20877624;17192395;21832049;22939629;21890473;20178365;22002062;23251661 10455 C9J000;C9JB63;F1LLU7;F8W6J1;F8WAW4;Q9NYH7 AB209917;ABBA01021999;AF069301;AF153612;AF244138;AF257175;AK057175;AK075108;AK222617;AK223003;AK297049;AL033383;AL136642;AMYH01016040;AU100345;AY297537;BC002668;BC008458;BC016781;BC017474;BC025287;BC033841;BC034702;BM671011;BQ653836;CH471087;CQ783146;CR456768;NM_001166010;NM_006117;NM_206836;NR_028588 AAC19317;AAD34173;AAF66247;AAF68974;AAH02668;AAH16781;AAH17474;AAH33841;AAH34702;ACE86754;ACE86755;ACE86756;ACE87442;ACE87443;ACE87444;BAD93154;BAD96337;BAD96723;BAG52068;BAG59575;CAB66577;CAF86353;CAG33049;EAW55158;EAW55159;EAW55160;EAW55161;EAW55162;EAW55163;EAW55164;NP_001159482;NP_006108;NP_996667;O75521 Hs.15250 1658219;1679251;2182043;5015861;5020948;7185938 D10S16;D6S1142E;G35510;RH70427;RH99317 ACBD2;DRS-1;DRS1;HCA88;KIAA0536;PECI;dJ1013A10.3 D3,D2-enoyl-CoA isomerase;DBI-related protein 1;DRS-1;OTTHUMP00000015976;OTTHUMP00000015978;OTTHUMP00000213829;OTTHUMP00000213830;acyl-Coenzyme A binding domain containing 2;delta(3),delta(2)-enoyl-CoA isomerase;diazepam-binding inhibitor-related protein 1;dodecenoyl-CoA isomerase;enoyl-CoA delta isomerase 2, mitochondrial;hepatocellular carcinoma-associated antigen 88;peroxisomal 3,2-trans-enoyl-CoA isomerase;peroxisomal D3,D2-enoyl-CoA isomerase;renal carcinoma antigen NY-REN-1 2289408 BW324_H APPROVED protein-coding ENSG00000198721 14601 16269 608024 VALIDATED 2303680 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it may be involved in cell shape changes and EGF-induced cell migration. This gene could play a role in angiogenesis-related diseases. [provided by RefSeq, Apr 2010] 5 5 5 q31.2 134904524 134917004 - 138817313 138822504 - 138784245 138784863 - 6480464 18556573;19416853;19267780;19240791;21145461;22610502;12477932;21720547;23393131 641700 C3RSF2;H0Y8G8;Q19T08 ABBA01026462;ABBA01068638;AC138517;AC142391;AC188049;AMYH01015651;AMYH01015652;BC146912;BC146913;DQ462572;EU025066;NM_001077693 AAI46913;AAI46914;ABE73209;ABW05062;NP_001071161;Q19T08 Hs.483538 ARIA;ECSM2 OTTHUMP00000223444;OTTHUMP00000223776;apoptosis regulator through modulating IAP expression;endothelial cell-specific chemotaxis regulator;endothelial cell-specific molecule 2 APPROVED protein-coding 35454 REVIEWED 1318155 ECM2 extracellular matrix protein 2, female organ and adipocyte specific ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 9 9 9 q22.3 65699616 65740268 - 94297420 94338073 - 95255829 95298374 - 1580863;6480464 9790758;16381901;15489336;15489334;15164053;12477932;11230166;11076863;9345023;8889548 1842 O94769;Q5T9F3;Q5T9F4 AB011792;ABBA01018585;ABBA01018586;AK296458;AK298278;AK303922;AK308485;AK312820;AL137848;AL157827;AMYH01021508;BC036806;BC105958;BC107493;BM972177;BX537976;CH471089;DC300418;NM_001197295;NM_001197296;NM_001393 AAH36806;AAI05959;AAI07494;BAA33958;BAG35677;BAG59105;BAG60538;BAG64850;CAD97940;CAL38001;EAW62824;NP_001184224;NP_001184225;NP_001384;O94769 Hs.117060 1664140;1671432;1755941;1850144 RH47432;RH69754;SHGC-142765;SHGC-34584 MGC126355;MGC126356 OTTHUMP00000021654;extracellular matrix protein 2;matrix glycoprotein SC1/ECM2 APPROVED protein-coding ENSG00000106823 3154 09148 603479 REVIEWED 1602709 ECSIT ECSIT signalling integrator 19 19 19 p13.2 11511487 11534729 - 11477744 11500930 - 11616731 11639987 - 6480464;6907045 22588174;17344420;16169070;15761153;14633973;12477932;10465784;20877624;21163940;22939629;18029348;21150319;22982022 51295 J3KTF5;K7EIK2;K7EJG5;K7EJI1;K7EM98;K7EMM0;K7EN32;K7EPL5;K7ESM8;Q9BQ95 ABBA01029842;ABBA01029843;ABBA01029844;ABBA01029845;AC008481;AF243044;AI336311;AI743680;AK314905;AMYH01009487;BC000193;BC005119;BC008279;BE791936;BU186092;CH471106;CR457204;NM_001142464;NM_001142465;NM_001243204;NM_016581;R46579 AAF62100;AAH00193;AAH05119;AAH08279;CAG33485;EAW84223;NP_001135936;NP_001135937;NP_001230133;NP_057665;Q9BQ95 Hs.515146 1681624;1734660;2176745 D19S665E;RH98319;STS-AA027810 SITPEC ECSIT homolog;evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial;likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved;signaling intermediate in Toll pathway evolutionarily conserved ortholog;signaling intermediate in Toll pathway, evolutionarily conserved APPROVED protein-coding ENSG00000130159 29548 12225 608388 VALIDATED 1353624 ECT2L epithelial cell transforming sequence 2 oncogene-like 6 6 6 q24.1 139857349 139965590 + 139176002 139266900 + 139117248 139225207 + 6480464 16344560;12477932;20379614 345930 B7ZBI6;F5H7S9;Q008S8 ABBA01025802;ABBA01025803;ABBA01025804;ABBA01025805;ABBA01025806;AK304425;AL121834;AMYH01016704;AMYH01016705;BC146884;DB221732;DC415949;DC416153;DC418522;DN831912;DQ904331;DV080594;NM_001077706;NM_001195037 AAI46885;ABI98401;BAH14180;NP_001071174;NP_001181966;Q008S8 Hs.660603 1750437;5015619;5037552 D11S3114;D8S2279;SHGC-111749 ARHGEF32;C6orf91;FBXO49;LFDH;dJ509I19.2;dJ509I19.3;dJ509I19.5 ECT2-like;F-box protein 49;OTTHUMP00000017301;chromosome 6 open reading frame 91;epithelial cell-transforming sequence 2 oncogene-like;lung specific F-box and DH domain containing protein;lung-specific F-box and DH domain-containing protein;putative guanine nucleotide exchange factor LFDH APPROVED protein-coding ENSG00000203734 21118 VALIDATED 1318344 ECT2 epithelial cell transforming sequence 2 oncogene The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 3 3 q26.1-q26.2 173951336 174021957 + 172468475 172539264 + 1580863;6480464 19008376;16129829;12761501;19118053;19015243;18842503;18642445;18511905;17942602;17688947;17488623;17115030;16964243;16862181;16803869;16778203;16352658;16247472;16170345;16118207;16103226;15642749;15545273;15254234;14702039;14668487;14587037;12477932;12376551;10837491;10579713;8889549;8464478;7665179;21474972;20734064;22898780;11756498;12376548;12787561;17474147;19468300;19468302;19617897;21124766;21189248;22990118;18201571;20360068;21886810;22172673;16236794;21373644;21139048;21906983;16344560;22514687;17395875;22552385;21963094;23251661;22683310 1894 C9J0L6;C9J1C4;C9JB41;C9JDB4;C9JDV9;C9JTI2;G5E9L8;H7C103;H7C3G1;Q9H8V3 ABBA01058644;AC108667;AK001323;AK001515;AK023267;AK027713;AK308391;AK314581;AL137710;AMYH01013654;AY376439;BC006838;BC006987;BC070038;BC112086;CH471052;DB229273;DC406772;DQ847274;JA385256;NM_001258315;NM_001258316;NM_018098 AAH06838;AAI12087;AAQ83675;ABH10140;BAA91624;BAB14498;BAB55317;BAG37157;CAB70886;CCB07385;EAW78460;EAW78461;NP_001245244;NP_001245245;NP_060568;Q9H8V3 Hs.518299 1340924;1680092;1697594;1723719;1761107;1853294;5015861;5015961;5037552;5109281;7184450;7185938 D10S16;D15S1477;D1S1425;D3S1556;D8S2279;G30172;RH102307;RH121430;RH91521;SHGC-145115 ARHGEF31;FLJ10461;MGC138291 OTTHUMP00000210539;OTTHUMP00000210684;OTTHUMP00000210685;OTTHUMP00000210686;epithelial cell-transforming sequence 2 oncogene;protein ECT2 APPROVED protein-coding ENSG00000114346 3155 11860 600586 REVIEWED 1348155 EDA ectodysplasin A The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q12-q13.1 68752636 69176047 + 68835911 69259322 + 1598881;1580863;6480464;7240710 8696334 12682853;8889548;11039935;10484778;9736768;19278982;19127222;18821982;18702659;18688569;18666859;18657636;18633626;18545687;18427821;18076698;17970812;17478381;17256800;17102627;16752854;16583127;16423472;15772651;15663448;15489334;14656435;12930312;12920369;12673367;12477932;12270937;11416205;11378824;11309369;11167539;10469321;9683615;9630076;9507389;9487109;8554048;11035039;11780064;19438931;19504606;19551394;19590514;19623212;19657145;19816326;20195514;20237496;20486090;20236127;20501644;20301291;23603338;23625373;21091672;20628232;21724072;21457804;21357618;22008666;21916884;20979233;22004506;22875504 1896 D6RA95;Q9UP77 ABBA01067480;ABBA01067481;ABBA01067482;ABBA01067483;ABBA01067484;ABBA01067485;ABBA01067486;ABBA01067487;ABBA01067488;ABBA01067489;ABBA01067490;ABBA01067491;ABBA01067492;ABBA01067493;ABBA01067494;ABBA01067495;ABBA01067496;ABBA01067497;ABBA01067498;ABBA01067499;ABBA01067500;ABBA01067501;ABBA01067502;ABBA01067503;ABBA01067504;ABBA01067505;ABBA01067506;ABBA01067507;ABBA01067508;ABBA01067509;ABBA01067510;ABBA01067511;ABBA01067512;ABBA01067513;ABBA01067514;ABBA01067515;ABBA01067516;ABBA01067517;ABBA01067518;ABBA01067519;ABBA01067520;ABBA01067521;ABBA01067522;ABBA01067523;ABBA01067524;AC002416;AF003528;AF040628;AF060999;AF061189;AF061190;AF061191;AF061192;AF061193;AF061194;AK311532;AL158069;AL158141;AL392090;AL450448;AL450449;AMYH01022521;AMYH01022522;BC126143;BC144049;BC144051;BE892420;BQ008767;BQ422683;BU608133;CA433299;CH471132;FO393403;NG_009809;NM_001005609;NM_001005610;NM_001005612;NM_001005613;NM_001399;U59227;U59228 AAB65831;AAC36302;AAC50678;AAC50679;AAC77363;AAC77371;AAC77372;AAC77373;AAC77374;AAC77375;AAC77376;AAI26144;AAI44050;AAI44052;EAX05360;EAX05361;EAX05362;NP_001005609;NP_001005610;NP_001005612;NP_001005613;NP_001390;Q92838 Hs.105407 1650120;1651210;1655735;1672971;1679023;1702252;1702662;1702760;1702832;1702986;1732207;1733984;1770065;1778921;1793646;1849166;1858094;2110383;2115837;2129099;2138870;2160169 DXS106;DXS1162;DXS1325;DXS1422;DXS1690;DXS7625;DXS7773;DXS7791;DXS7845;DXS8269;DXS8270;DYS417;EDA_8319;G06856;L42647;L78108;PMC24264P5;RH41975;RH47751;RH70680;RH92962;WI-10638 ECTD1;ED1;ED1-A1;ED1-A2;EDA-A1;EDA-A2;EDA1;EDA2;HED;HED1;ODT1;STHAGX1;XHED;XLHED OTTHUMP00000023461;OTTHUMP00000023462;OTTHUMP00000217255;OTTHUMP00000217279;OTTHUMP00000232592;OTTHUMP00000232593;OTTHUMP00000232594;X-linked anhidroitic ectodermal dysplasia protein;ectodermal dysplasia protein;ectodysplasin-A;oligodontia 1 APPROVED protein-coding ENSG00000158813 3157 02347 300451;305100;313500 REVIEWED 1351297 EDARADD EDAR-associated death domain This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 209804771 209895082 + 234624303 234714631 + 236557680 236648008 + 1580863;6480464;7240710 11780064;16710414;14702039;12477932;11997580;11882293;11035039;9245989;20222921;21626677;20979233;22984994;16251197 128178 B1AL55;Q8WWZ3 ABBA01033160;ABBA01033161;ABBA01033162;ABBA01033163;AK096339;AK290862;AK291930;AK314634;AL136105;AL354693;AMYH01001857;AMYH01001858;AY028912;AY028913;AY028914;AY071862;BC006533;BC046928;BC114557;BC114560;BC128082;CH471098;NG_011566;NM_080738;NM_145861 AAI28083;AAK40285;AAK40286;AAK40287;AAK40288;AAL60590;BAF83551;BAF84619;BAG37197;EAW70047;EAW70048;EAW70049;EAW70050;EAW70051;EAW70052;NP_542776;NP_665860;Q8WWZ3 Hs.352224 1335924;1337070;1337355;1723715;1758769;2113648;2115092;2138454;2166998;2189903 99-13794;AB072753;D1S1680;D1S2678;D1S2680;D1S2850;D1S3450;D1S372;RH121427;SHGC-150737 ECTD11A;ECTD11B;ED3;EDA3 EDAR-associated death domain protein;OTTHUMP00000037857;OTTHUMP00000037858;OTTHUMP00000037859;crinkled homolog;ectodysplasia A receptor associated death domain;ectodysplasin A receptor associated adapter protein;ectodysplasin-A receptor-associated adapter protein;protein crinkled homolog APPROVED protein-coding ENSG00000186197 14341 05965 129490;224900;606603;614940;614941 REVIEWED 1344270 EDA2R ectodysplasin A2 receptor EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2011] X X X q12 66163047 66183441 - 65732204 65752598 - 65815479 65859140 - 1580863;6480464 15280356;11039935;12270937;18385763;16423472;15489334;12975309;12477932;12060722;19373488;19543321;19590514;20199557;20501644;15342556;17207965;21724072;16344560;20360068;22032556;22309448 60401 B2RBZ9;E7EUS4;Q9HAV5 ABBA01067134;ABBA01067135;ABBA01067136;ABBA01067137;ABBA01067138;ABBA01067139;ABBA01067140;ABBA01067141;AF298812;AK296264;AK299018;AK314881;AL353136;AMYH01022511;AY152724;AY358735;AY358736;BC034919;BP249106;CH471132;DA215848;DC368837;NG_013271;NM_001199687;NM_001242310;NM_021783 AAG28761;AAH34919;AAN73210;AAQ89952;AAQ89953;ADQ32117;BAG37396;BAG58977;BAG61098;EAX05382;NP_001186616;NP_001229239;NP_068555;Q9HAV5 Hs.302017 1649929;1729257;1764729;5491880 DXS7054;EDA2R;G64108;SHGC-148317 EDA-A2R;EDAA2R;TNFRSF27;XEDAR EDA-A2 receptor;OTTHUMP00000023448;OTTHUMP00000023449;X-linked ectodysplasin-A2 receptor;tumor necrosis factor receptor superfamily member 27;tumor necrosis factor receptor superfamily member XEDAR APPROVED protein-coding ENSG00000131080 17756 02230 300276 REVIEWED 3516429 EDDM3DP epididymal protein 3D, pseudogene 14 14 14 q11.2 1063618 1064054 + 20272577 20273013 + 21202718 21203519 + 100128220 ABBA01061235;AL163636;AMYH01005590;NG_028961 1719933 RH123659 APPROVED pseudo 37707 INFERRED 1350520 EDDM3CP epididymal protein 3C, pseudogene 2 2 q21 128789749 128790370 - 135077125 135077746 - 7514008 266643 ABBA01028192;AC016906;AMYH01011113;NG_002367;NG_030324;X76387 FAM12CP;HE3-GAMMA APPROVED pseudo 19224 INFERRED 1344202 EDAR ectodysplasin A receptor This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] 2 2 q13 108877361 108972260 - 109510927 109605828 - 1598883;1580863;6480464;7240710 10431241 11035039;18704500;18561327;18231121;18065779;17970812;17501952;16435307;16423472;15489334;15340161;14729942;12477932;12270937;11997580;11882293;11780064;11570810;11309369;11039935;9545409;9375732;22032522;19913121;20033817;20628086;19438931;19551394;19804850;20199431;20237496;20236127;21771270;20979233;20301291;23415220 10913 E9PC98;Q9UNE0 ABBA01000765;AC073415;AC092160;AC133784;AF130988;AF130996;AI017384;AK296936;AK313781;AMYH01010857;BC093870;BC093872;CH471182;CR749352;NG_008257;NM_022336 AAD50076;AAD50077;AAH93870;AAH93872;ACE86805;ACE87492;BAG36519;BAG59487;CAH18205;EAW53868;EAW53869;NP_071731;Q9UNE0 Hs.171971 1670262;1699424;1769405;2120046;2120448 RH103303;RH48148;RH78194;SGC44330;T02821 DL;ECTD10A;ECTD10B;ED1R;ED3;ED5;EDA-A1R;EDA1R;EDA3;FLJ94390;HRM1 EDA-A1 receptor;OTTHUMP00000161607;OTTHUMP00000203902;anhidrotic ectodysplasin receptor 1;downless homolog;downless, mouse, homolog of;ectodermal dysplasia receptor;ectodysplasin 1, anhidrotic receptor;ectodysplasin-A receptor;tumor necrosis factor receptor superfamily member EDAR APPROVED protein-coding ENSG00000135960 2895 04974 129490;224900;604095;612630 REVIEWED 1606564 EDC4 enhancer of mRNA decapping 4 16 16 16 q22.1 52415411 52426818 + 66464500 66475907 + 67906926 67918417 + 6480464 7520377;12477932;15231747;16364915;9067524;21347282;19454010;22863883;22982864;20360068;21672539;21903422;21139048;21890473;21906983;22399527;22586326;18029348;19380743;22190034;22505724 23644 I3L0V0;I3L2F4;I3L3M2;Q6P2E9 ABBA01025463;AC040162;AI076562;AI631525;AK128582;AK291049;AK302563;AMYH01007754;BC043616;BC053598;BC064567;BX445706;CH471092;DC403765;L26339;NM_014329;U17474 AAA21833;AAB51444;AAH43616;AAH53598;AAH64567;BAF83738;BAH13744;EAW83183;NP_055144;Q6P2E9 Hs.75682 1648916;1776945;2119482;2150761;2178126 D16S3182;RH79122;SHGC-60839;SHGC-74292;STS-N52770 GE1;Ge-1;HEDL5;HEDLS;RCD-8;RCD8 OTTHUMP00000174847;autoantigen Ge-1;autoantigen RCD-8;enhancer of mRNA-decapping protein 4;human enhancer of decapping large subunit protein-coding ENSG00000038358 17157 06911 606030 VALIDATED 1604794 EDC3 enhancer of mRNA decapping 3 homolog (S. cerevisiae) EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM, Mar 2008] 15 15 15 q24.1 51872834 51938502 - 72709952 72775413 - 74922899 74988386 - 6480464 16364915;17353931;18678652;17923697;17533573;16964243;16344560;15498874;15489334;15324660;15225602;14702039;12477932;8125298;21490707;19285948;19615732;20811636;21139048;21890473;20360068 80153 H3BMB8;H3BN89;H3BNJ7;H3BPN4;H3BPW9;H3BQ37;H3BQA1;H3BQP5;H3BSQ0;H3BTD6;H3BTF8;H3BTH0;H3BU87;Q96F86 ABBA01060496;ABBA01060497;ABBA01060498;ABBA01060499;AC091230;AC100835;AF193058;AK024781;AK056339;AK225099;AL133447;AMYH01006794;BC011534;BC021271;BM999594;CA440205;CH471136;DA168050;DB007958;NM_001142443;NM_001142444;NM_025083 AAG22486;AAH11534;AAH21271;BAB15001;BAG51682;EAW99316;EAW99317;EAW99318;EAW99319;NP_001135915;NP_001135916;NP_079359;Q96F86 Hs.682454;Hs.96852 1689855;1847246;1847248;1847774;1854367;2144487 A006F45;G20776;RH11281;RH44478;RH65889;RH93055 FLJ21128;FLJ31777;LSM16;YJDC;YJEFN2 LSM16 homolog (EDC3, S. cerevisiae);OTTHUMP00000183472;enhancer of mRNA-decapping protein 3;hYjeF_N2;hYjeF_N2-15q23;yjeF N-terminal domain-containing protein 2;yjeF domain containing;yjeF domain-containing protein 1;yjeF_N2 APPROVED protein-coding ENSG00000179151 26114 07954 609842 VALIDATED 1344731 EDDM3B epididymal protein 3B Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1097447 1099968 + 20306426 20308947 + 21236586 21239107 + 1580863;6480464 18029348;12975309;11715855;9739419;9685187;7514008;12477932 64184 P56851 ABBA01061235;AI075915;AL133371;AL163636;AMYH01005590;AX192189;AY358865;BC128030;BX112699;CH471078;HC006942;HC044705;NM_022360;X76386 AAI28031;AAQ89224;CAC17141;CAC51312;CBH19276;CBH30682;EAW66443;NP_071755;P56851 Hs.525202 EP3B;FAM12B;HE3-BETA;HE3B OTTHUMP00000028281;epididymal secretory protein E3 beta;epididymal secretory protein E3-beta;family with sequence similarity 12, member B (epididymal);human epididymis-specific 3 beta;human epididymis-specific protein 3-beta APPROVED protein-coding ENSG00000181552 19223 13290 611582 VALIDATED 1354159 EDDM3A epididymal protein 3A Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1074990 1077430 + 20283939 20286379 + 21214099 21216539 + 1580863;6480464 7514008;15489334;12477932;11715855;9739419;9685187;17207965 10876 Q14507 AA769825;ABBA01061235;AL163636;AMYH01005590;BC069407;BC096698;BC096731;BC098164;BC098356;BC106711;BC106712;CH471078;NM_006683;X76383 AAH69407;AAH96698;AAH96731;AAH98164;AAH98356;AAI06712;AAI06713;ADQ32872;CAA53971;EAW66444;NP_006674;Q14507 Hs.304757 2107071;2118223 FAM12A__7624;RH70907 EP3A;FAM12A;HE3-ALPHA;HE3A;HE3ALPHA;MGC119614;MGC119615 OTTHUMP00000164018;epididymal secretory protein E3 alpha;epididymal secretory protein E3-alpha;epididymis-specific 3 alpha;family with sequence similarity 12, member A;human epididymis-specific 3 alpha;human epididymis-specific protein 3-alpha APPROVED protein-coding ENSG00000181562 16978 13289 611580 VALIDATED 1349759 EDEM1 ER degradation enhancer, mannosidase alpha-like 1 3 3 p26.1 5204433 5236642 + 5229359 5261650 + 1580863;6480464;6907045 16449189;19524542;19266160;18452703;17360537;16629899;15579471;15489334;15146197;12610306;12610305;12477932;11375934;9039502;17353931;21388347;20065073;19934218;17499246;18303019;21062743;22905195;21632540;21917589;19322201;17380188;23233672 9695 B4DXP3;F8WE67;F8WER9;Q92611 ABBA01020456;ABBA01020457;AC026202;AK292643;AK298511;AK302065;AMYH01012952;BC019088;CH471055;CN364698;D86967;NM_014674 AAH19088;ABM83604;ABM86847;BAA13203;BAF85332;BAG60717;BAG63455;EAW63925;EAW63926;NP_055489;Q92611 Hs.224616 2106473;2121559;2158706;2172626 AL023479;EDEM1__4792;SHGC-76673;STS-N23299 EDEM;FLJ51559;FLJ51560;KIAA0212 ER degradation enhancing alpha mannosidase-like;ER degradation-enhancing alpha-mannosidase-like 1;ER degradation-enhancing alpha-mannosidase-like protein 1;OTTHUMP00000206910;OTTHUMP00000206911 protein-coding ENSG00000134109 18967 09644 607673 VALIDATED 1353394 EDEM3 ER degradation enhancer, mannosidase alpha-like 3 Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008] 1 1 1 q25 157770616 157835009 - 182926260 182990327 - 184659625 184724041 - 6480464;6907045 14702039;16710414;16431915;16344560;15579471;15537790;12477932;11318611;8125298;17499246;18303019;20360068;21890473;23251661;22190034;22268729 80267 B7ZLZ2;H0Y498;Q7L2Y5;Q9BZQ6 ABBA01027730;ABBA01027731;AF288393;AI521228;AK000945;AK023095;AK225171;AK315118;AL096819;AL117441;AMYH01001557;BC016464;BC070173;BC105586;BC144149;BC144150;CH471067;DA724785;DB292148;NM_025191 AAG60613;AAH16464;AAI05587;AAI44150;AAI60020;BAA91438;BAB14402;BAG37573;CAB55926;EAW91178;EAW91179;EAW91180;EAW91181;EAW91182;EAW91183;NP_079467;Q9BZQ6 Hs.523811 1650580;1850223;2155815;2181312 RH48990;SHGC-53072;SHGC-76042;SHGC-76050 C1orf22 ER degradation-enhancing -mannosidase-like protein 3;ER degradation-enhancing alpha-mannosidase-like 3;ER degradation-enhancing alpha-mannosidase-like protein 3;OTTHUMP00000033398;alpha-1,2-mannosidase EDEM3;chromosome 1 open reading frame 22 APPROVED protein-coding ENSG00000116406 16787 10724 610214 VALIDATED 1354312 EDEM2 ER degradation enhancer, mannosidase alpha-like 2 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008] 20 20 20 q11.22 30452013 30484015 - 33166831 33198804 - 33703160 33735161 - 6480464;6907045 15579471;15537790;15489334;15342556;14702039;12975309;12477932;11780052;9110174;8619474;16169070;20802025;17499246;18303019;21822266;21906983;22703881 55741 B4E1F4;F5GZ44;G3V1Q0;Q9NVE6 ABBA01019169;AF086313;AI919497;AK001645;AK023931;AK096016;AK293583;AK298794;AK300212;AK303816;AL135844;AL356652;AMYH01011869;AY007088;AY358580;BC001371;BC016184;BP297100;BU188881;CH471077;CR457266;NM_001145025;NM_018217;NR_026728 AAH01371;AAH16184;AAQ88943;BAA91806;BAB14731;BAG57052;BAG60931;BAG61981;BAG64766;CAG33547;EAW76225;EAW76226;EAW76227;EAW76228;NP_001138497;NP_060687;Q9BV94 Hs.720177 1661757 STS-W73797 C20orf31;C20orf49;FLJ10783;bA4204.1 ER degradation-enhancing alpha-mannosidase-like 2;ER degradation-enhancing alpha-mannosidase-like protein 2;ER degradation-enhancing-mannosidase-like protein 2;OTTHUMP00000030728 APPROVED protein-coding ENSG00000088298 15877 09841 610302 VALIDATED 1343635 EDIL3 EGF-like repeats and discoidin I-like domains 3 The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008] 5 5 5 q14 79143254 79585747 - 83273882 83716367 - 83238126 83680611 - 1580863;6480464 9420328;19578876;18090124;12477932;12074641;11959660;22601780;20950786;20237162;20379614;20857535;20360068;22388320;21890473;22138694;19292890;23000965;23364949;23419831 10085 O43854;Q8N610 AA053720;ABBA01062086;ABBA01062087;ABBA01062088;ABBA01062089;ABBA01062090;AC010600;AC020936;AC020938;AC026440;AC093296;AC109496;AK302942;AK312858;AMYH01015456;AMYH01015457;AMYH01015458;BC030828;BC053656;BQ101116;BX648583;CH471084;DB504385;ES308783;NM_001278642;NM_005711;U70312;U70313 AAC02648;AAC02649;AAH30828;AAH53656;ACE86684;ACE86718;ACE87368;ACE87404;BAG35710;BAH13851;EAW95916;EAW95917;EAW95918;NP_001265571;NP_005702;O43854 Hs.482730 1334922;1339269;1341125;1660285;1730385;1752593;1753465;1755073;1779384;1785252;2123433;2134872;2160423;2162076;2162515;2181803;2185710 1404;D5S107;D5S1498;D5S1716;D5S2641;D5S450E;D5S459;G10681;G10695;RH48797;RH78282;SHGC-104015;SHGC-106458;SHGC-107388;SHGC-142009;SHGC-14406;SHGC-153373 DEL1;MGC26287 EGF-like repeat and discoidin I-like domain-containing protein 3;OTTHUMP00000147588;OTTHUMP00000222402;developmental endothelial locus-1;developmentally-regulated endothelial cell locus 1 protein;integrin-binding protein DEL1 APPROVED protein-coding 3173 09350 606018 REVIEWED 1317635 EDF1 endothelial differentiation-related factor 1 This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34.3 110270359 110274526 - 138876392 138880559 - 139756571 139760738 - 1580863;6480464 12040021;10567391;9813014;8164657;16567061;15489334;15164053;15112053;12477932;10816571;10469174;16880509;18029348;22939629;21782027;21900206;20972266;21139048;21890473;21906983;17709345;23000965;7566098 8721 O60869 AA325420;AB002282;AB002283;ABBA01022726;AL355987;AMYH01021879;BC015500;BI833652;BM800379;BQ279031;BT009863;CH471090;CR541914;CS185530;HH770500;HH770560;HY029111;HY086994;HY170122;NG_029208;NM_001281297;NM_001281298;NM_001281299;NM_003792;NM_153200 AAH15500;AAP88865;ABM82503;ABM85696;BAA88073;BAA88074;CAG46712;CAJ42711;CBX85963;CBX85993;EAW88296;EAW88297;EAW88298;NP_001268226;NP_001268227;NP_001268228;NP_003783;NP_694880;O60869 Hs.174050 1735890;2127391 D9S1009E;D9S2053 EDF-1;MBF1;MGC9058 OTTHUMP00000022616;OTTHUMP00000022617;OTTHUMP00000022618;endothelial differentiation-related factor 1;multiprotein bridging factor 1;multiprotein bridging factor-1;multiprotein-bridging factor 1 APPROVED protein-coding ENSG00000107223 3164 09235 605107 REVIEWED 1344943 EEC1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 7240710 1424230 1913 3186 1347602 EEC2 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 9443880 1914 3187 737548 EDN2 endothelin 2 This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. [provided by RefSeq, Oct 2008] 1 1 p34 41717033 41722884 - 41944446 41950344 - 1580915;1580916;1580917;1580918;1580919;1580921;1580920;1625402;1580863;6480464;6484113 11947982;10976780;10489105;10598486;9015697;10573185;1479622;15007037 8982507;1713452;2649896;22047647;1917960;12207323;1652300;9696419;9492062;9422810;15691296;19527514;19336370;19019335;18818748;18037749;17997104;17445867;16879056;16714215;16493522;15619356;15489334;15059899;12516960;12477932;12184531;11187978;10750028;10494802;10438732;9826183;9675146;9588179;9284755;9164966;8821821;8697704;8671207;8345469;8323558;7509960;7509938;2201681;2018043;1840558;1816758;1725387;1725334;1701397;1446139;1345052;9085198;19913121;20628086;19527488;20028935;16754659;20140262;22865632;23518706;22727793;22921304 1907 P20800 ABBA01023147;AL445933;AMYH01000545;AY518541;BC034393;BI761655;CH471059;M25550;M65199;NM_001956;S63516;S63833;S63834;S63835;S63836;S63837;S63838;X55177 AAA52340;AAA52404;AAH34393;AAR89914;CAA38962;EAX07175;NP_001947;P20800 Hs.1407 1795726;2145858 EDN2_27;SHGC-74658 ET2;PPET2 ET-2;OTTHUMP00000007075;endothelin-2;preproendothelin 2;preproendothelin-2 APPROVED protein-coding ENSG00000127129 3177 07173 131241 REVIEWED 730848 EDN1 endothelin 1 The protein encoded by this gene is proteolytically processed to release a secreted peptide termed endothelin 1. This peptide is a potent vasoconstrictor and is produced by vascular endothelial cells. Endothelin 1 also can affect the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 6 6 p24.1 12398515 12405413 + 12290529 12297427 + 734914;1625065;1331525;734913;734910;1580863;1580323;1625064;2313283;2313284;2313279;2313278;2313280;2313281;2313282;4144128;4145079;4144838;4144859;4144877;4144879;4144880;4144829;4144849;4144854;4144858;4144881;4144885;4144892;4144886;4144891;4145066;4145070;4144866;4144887;4144895;4145069;4144835;4144845;4144855;4144889;4145071;4144848;4144901;4145074;4144843;4144882;4145073;4144865;4144130;4144841;4145062;4145072;4144852;4145063;4833436;4144857;4144868;4144954;2302065;4145075;2292142;4892577;4892580;4892591;4892595;4892599;4892579;4144869;4144902;4145067;6480464;6484113;7244167 12941866;17444275;15118671;8152482;9649553;15124920;17357073;18496905;18346810;19293263;19581418;19286964;18806884;18516100;20889845;8256914;20666571;20547970;20562228;20529344;17893002;20733093;8441230;12629276;20559433;20516397;11230327;9279246;7968078;15185300;19513693;11593097;9284832;8113329;20588001;19262391;2198188;8149524;9175058;8099638;18831711;8569091;17198911;18631350;20628429;20498147;1618274;20890431;20888384;20647310;10445603;7653485;19967049;19730395;17880366;20589171;20707291;9973223;19000375;18580062;17420087;18722366;18586023;20409845;17214938;16810072;18600494;11668616;8764295;19358946;10199843 21219832;18288492;1859417;21959927;22299030;19073831;19057845;19056482;19014602;19012521;18991188;18991099;18974277;18953265;18923236;18822124;18814847;18809573;18794727;18772174;18764935;18752143;18676680;18663623;18660489;18623111;18603063;18579652;18579320;18568290;18550016;18489822;18484695;18463805;18447854;18442814;18441204;18436890;18411415;18401297;18398338;18395679;18379872;18378042;18326921;2649896;10770212;8982507;1725334;1917960;12379507;16820593;9696419;17078114;12847114;8999856;9492062;10393673;9422810;19640695;19634784;19536618;19520754;19520685;19479828;19475602;19446279;19420105;19416273;19415232;19369451;19367425;19358249;19336370;19264973;19258923;19254215;19247692;19225824;19171135;19150882;19103606;19086263;19086031;19077312;19074885;14636060;14634722;14602502;14587645;14578413;14574404;14558091;14523636;14519635;14514737;13680553;12972292;12963677;12907686;12887757;12861161;12855940;12750312;12746758;12721154;12695528;12657945;12620701;12588850;12565798;12557940;12529269;12511547;12508654;12477932;12459174;12446192;12230494;12189238;12151765;12144123;12137974;12117726;12107733;12087564;12082592;12077518;12068797;12013496;12011762;12009599;11991733;11991554;11934840;11932487;11866544;11858185;11831453;11795667;11751711;11742499;11693192;11601839;11448123;11410113;11399938;11210078;11179511;10620363;10438732;10391210;10334806;10231710;10220569;9595387;9324057;9284755;9257865;8889548;8450044;8144511;8125160;7773179;7664037;3282927;2678110;2670930;2659594;2201681;2018043;2005113;1864385;18260253;18212505;18080871;18063846;18050250;18031458;18025413;18023202;18005077;17996929;17969585;17967707;17960156;17938376;17913962;17884295;17875064;17855483;17850909;17703412;17701914;17693542;17681742;17664854;17664075;17576235;17575543;17569300;17556493;17549358;17535295;17525706;17505299;17497362;17497041;17497038;17470272;17460393;17438153;17404040;17395629;17353514;17345061;17340622;17335511;17328840;17291632;17274718;17264805;17222082;17221318;17203161;17148661;17123690;17122448;17020466;17016617;17016610;16986361;16982943;16971893;16956834;16947775;16943682;16931893;16864942;16815566;16809784;16778329;16769575;16720059;16713569;16648553;16597412;16582543;16531800;16526196;16521405;16466695;16452160;16357176;16336267;16320159;16291872;16234608;16217751;16098041;16097909;16095497;16076689;16026642;16021085;16002759;15988412;15979050;15946919;15946241;15864745;15838370;15838369;15838368;15838357;15838351;15838344;15838340;15838337;15838336;15838334;15838333;15838328;15838323;15838299;15838269;15818445;15817494;15743480;15702240;15699938;15652492;15646831;15643502;15623376;15621731;15610525;15568807;15558022;15518541;15505112;15489334;15466627;15369130;15347673;15319532;15269821;15240857;15224360;15213100;15198485;15194301;15188945;15161426;15139053;15126915;15093707;15073116;15047866;15044479;15041798;15009217;14769714;14763917;14736087;14735061;14733410;14692644;14685288;14660616;14639018;21638248;16754659;1736987;1713452;1515112;1422154;1280264;17197385;15481145;8482849;9453574;16169070;17357519;20673868;19913121;20485444;20538124;20565774;20572854;20587610;20602615;20628086;20634891;20663522;20672350;21045115;15691296;18390205;18945274;19046960;19116719;19170196;19188658;19188660;19212702;19217622;19371341;19391127;19460784;19526396;19527488;19543207;19558538;19564455;19578796;19592490;19625176;19626996;19661472;19672034;19687345;19692168;19717811;19729965;19764340;19808370;19887561;19899414;19907721;19927348;19948975;19996987;20015663;20028935;20031624;20051644;20055532;20082271;20083228;20083432;20091488;20204072;20217138;20308035;20339975;20346360;20416077;20452482;20497976;20503287;20537417;20652766;20634595;20873151;21214096;20437399;20538960;20952631;20952681;20685405;20016521;20055806;20150570;20370579;20634796;21183790;20188614;20368210;20452970;20495015;20837906;20664700;20559285;20725135;20725137;20725140;20725141;20725143;20728421;20971496;21059990;18945538;19862540;20594999;20628425;20628428;23002189;21087804;21217075;21498707;21557930;20837776;21169360;21251377;20670842;21129745;21208707;22527528;20608808;20974279;19767294;22675930;22960172;22796455;21531894;21406182;20594474;21490504;21673044;19087492;20678167;21498912;21851036;21601190;21786569;21730058;21767690;21813388;23523690;22770822;17178876;21712053;21515378;21932697;22759779;22006997;22377253;23233754;23255664;21334758;21637825;21701423;21701170;21741393;22165675;21174590;21659661;22045428;21666117;21826669;21656314;21677436;22330820;21896842;21356562;23344160;23227981;22520393;22341591;22504006;22666926;21418087;21445967;21499502;21681744;21777246;21801587;21801592;21908890;21952518;22082020;22113444;22175913;22232246;22321643;22412088;22545467;22569256;22503784;22856221;22856224;22971991;23372172;22415226;22406080;22483689;22483692;22525370;22552325;22580289;22727793;23018104;23329136;23381795;23142694;23720837;23457411;22869459;22907118;21773759;23103494;22994522;22553998 1906 P05305;Q6FH53 ABBA01022112;AK226096;AK291838;AK307089;AK313914;AL548191;AMYH01016087;AW044634;AY434104;BC009720;BC036851;BG540968;BM680754;BQ009676;BX439515;CA306604;CH471087;CR541903;J05008;M25380;M25549;NG_016196;NM_001168319;NM_001955;S56805;Y00749;Z98050 AAA52338;AAA52339;AAA52407;AAB25760;AAH09720;AAQ96600;ABM81907;ABM85081;BAF84527;CAA68718;CAG46701;EAW55313;EAW55314;EAW55315;EAW55316;NP_001161791;NP_001946;P05305 Hs.511899;Hs.713645 1659823;2138389 A006R11;WI-7563 ET1;HDLCQ7;PPET1 OTTHUMP00000016038;endothelin-1;preproendothelin-1 APPROVED protein-coding ENSG00000078401 3176 07030 131240 REVIEWED 1352976 EEF1A1P1 eukaryotic translation elongation factor 1 alpha 1 pseudogene 1 21 21 21 q21.1 9945013 9946047 + 23684451 23685485 + 24762580 24763614 + 10830953 54054 ABBA01057189;AMYH01012170;AP000459;NG_000926 EEF1A1P APPROVED pseudo 3191 INFERRED 1344952 EDN3 endothelin 3 The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 20 20 q13.2-q13.3 57308894 57334442 + 57875499 57901047 + 1601001;1601002;1601003;1580863;6480464;6484113;7240710 8630502;8696331;9359047 1917960;1889823;1464662;1713452;2649896;10770212;8982507;8298278;9696419;15691296;19183406;18832450;18722093;18346402;17554617;17009072;16423827;15489334;14669347;12477932;12189494;11982704;11780052;11303518;11106284;10884419;10438732;10231870;9359036;9284755;9257865;8632985;8630503;8001160;7881755;2509452;2226872;2178974;2018043;1610811;19913121;20628086;19430479;19527488;19556619;19764030;20009762;20028935;20495744;17207965;20538960;18577758;16754659;22921304;22876130;21813388;22865632;20301600;22013079;21909110;21909115 1908 P14138;Q4FAT2 ABBA01005965;AL035250;AMYH01012025;AY444503;BC008876;BC053866;BT007085;CH471077;DQ096281;J05081;M25551;NG_008050;NM_000114;NM_207032;NM_207033;NM_207034;S50864;S50866;X52001 AAA52341;AAA52405;AAH08876;AAH53866;AAP35748;AAR16083;AAZ03610;ADQ31587;CAA36252;EAW75434;EAW75435;EAW75436;EAW75437;NP_000105;NP_996915;NP_996916;NP_996917;P14138 Hs.1408 1666715;1673757;1728983;1771969;1784362;1795728;2144438;2160002 D20S1073;D2S2882;EDN3_1730;Edn3;SHGC-132082;STS-X52001;WI-17085;WI-18958 ET-3;ET3;HSCR4;MGC15067;MGC61498;PPET3;WS4B ET-3;OTTHUMP00000031420;OTTHUMP00000031421;OTTHUMP00000031422;OTTHUMP00000174458;PPET3;endothelin-3;preproendothelin-3;truncated endothelin 3 APPROVED protein-coding ENSG00000124205 3178 00570 131242;209880;613265;613712 REVIEWED 1342768 EEF1A1P10 eukaryotic translation elongation factor 1 alpha 1 pseudogene 10 7 144344282 144345668 - 8812466;8812466 100421829;1926 AACC02000041;ABBA01033545;AC004833;AMYH01018088;NG_026523;NG_032112 EEF1AL8 APPROVED pseudo 3205 INFERRED 1345248 EEF1A1P11 eukaryotic translation elongation factor 1 alpha 1 pseudogene 11 1 1 1 p21.3 95166810 95168503 + 96685074 96686767 + 96912486 96914179 + 8812466 440595 ABBA01045485;AC092393;AMYH01000813;NG_008817 1692510 AL033907 EEF1AL9 APPROVED pseudo 3206 INFERRED 1605294 EEF1A1P13 eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 5 5 5 p15.1 14675735 14677319 - 14704289 14706236 - 14651752 14653336 - 10343093;8812466 133283 ABBA01020638;AC010491;AC010627;AMYH01014922;NG_002349 EEF1AL11 APPROVED pseudo 3196 INFERRED 1344455 EEF1A1P12 eukaryotic translation elongation factor 1 alpha 1 pseudogene 12 2 2 2 q12.2 101522881 101524519 - 106679926 106681564 - 107313494 107315132 - 8812466;8812466 644604 ABBA01043978;AC096663;AMYH01010846;NG_016738 EEF1AL10 APPROVED pseudo 3195 INFERRED 1343801 EEF1A1P15 eukaryotic translation elongation factor 1 alpha 1 pseudogene 15 X X X q21.33 98164395 98165824 + 97531164 97532593 + 97644508 97645937 + 6480464 8812466;8812466 643563 ABBA01064384;AL357312;AMYH01022706;NG_016768 EEF1AL13 APPROVED pseudo 3198 INFERRED 737537 EDNRA endothelin receptor type A This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q31.22 148621575 148685555 + 148402069 148466106 + 1580946;1580947;1580948;1580949;1580950;1580952;1580945;1580863;734916;4144877;4892322;4892284;4892584;4892320;4892325;4892326;4892572;4892336;4892580;4892306;2292142;4892282;2313280;4892579;4892286;4892283;4145067;4892591;4892595;4892288;4892323;6480464;6484113;7244179;7244242;7240710 14729387;11601839;12524016;15243299;14616768;10192234;16002759;11376172;20562228;17448648;20144075;17597600;18506008;15107459;21191784;19371338;20690982;18586023;20083432;17420087;21183790;19286964;18600494;20028935;20531217;19358946;20409845;17214938;18632188;16543720;11078391;12972712 15838262;15713850;15489334;15213100;15187089;15139053;15073116;15047866;15041798;14636059;14519635;12875994;12768436;12629276;12595285;12544508;12477932;12082592;11982704;11930911;11382773;11262386;10789830;10770212;10448102;9211925;8440682;8427579;8114678;7882989;1719979;1659806;1652463;1415318;1291713;8611157;8702836;8982507;9284755;1849646;1326535;19593212;19558538;19479828;19367425;19247692;19225824;18756291;18678984;18660489;18326801;18212505;18172451;17706018;17616694;17616673;17575543;17525706;17470272;17468950;17437213;17353514;17203161;17198909;17122448;17016617;16984730;16971893;16962346;16947775;16879994;16816835;16648553;16618267;16582543;16567585;16531800;16344560;16208144;16149067;15988412;15851553;15838367;15838366;15838364;15838329;15838315;15838285;22688668;19913121;20485444;20628086;19217622;19460784;19575782;19578796;19626996;19653178;19898645;20034471;20043107;20100616;20346360;20150570;20538960;20964792;20401344;18577758;20725140;16754659;18945538;21057729;22561246;21498912;20371740;20963824;21601190;21515378;21453125;21220476;21487064;22129540;21424380;19601701;21773759;22106312;22318606;22510270;21356562;21418087;21909108;22286173;22365955;22480520;22580289;19202075;23058564;23064961;23251661;23233754 1909 AAB24923;Q16433 ABBA01070057;ABBA01070058;AC093908;AF014826;AK304451;AK312812;AK315931;AMYH01014602;AY275462;AY422989;BC022511;BQ006584;CD723797;CH471056;D11151;D90348;DA183901;DA775295;DA956937;L06622;NG_013343;NM_001166055;NM_001256283;NM_001957;NR_045958;S45956;S55772;S57498;S63938;S67127;S81539;S81542;S81545;X61950 AAA58447;AAB20278;AAB20407;AAB23644;AAB24923;AAB25212;AAB25530;AAB36325;AAB36326;AAB36327;AAB94859;AAH22511;AAP32294;AAQ87880;ABM83255;ABM86458;BAA01920;BAA14359;BAG35670;BAG65268;BAH14302;CAA43953;EAX05017;EAX05018;EAX05019;EAX05020;EAX05021;NP_001159527;NP_001243212;NP_001948;P25101 Hs.183713 1646639;1772627;1795250;2117792;2137472;2148378;2155118;2159088;5126231 D18S1266;D4S3266;EDNRA_29;G10643;RH48922;SHGC-53255;SHGC-59477;SHGC-59478;SHGC-67921 ET-A;ETA;ETA-R;ETAR;ETRA;hET-AR ET-A;ETA-R;G protein-coupled receptor;OTTHUMP00000220090;OTTHUMP00000220091;OTTHUMP00000220093;endothelin A receptor;endothelin ET-A receptor;endothelin receptor subtype A;endothelin receptor, ET1-specific type;endothelin-1 receptor;endothelin-1-specific receptor;hET-AR APPROVED protein-coding ENSG00000151617 3179 00571 131243;157300 REVIEWED 1345794 EEF1A1P14 eukaryotic translation elongation factor 1 alpha 1 pseudogene 14 1 1 1 q31.3 167270035 167271673 + 192424720 192426095 + 194158034 194159672 + 8812466;23251661 647167 ABBA01027628;AL356272;AL591171;AMYH01001598;NG_008758 EEF1AL12 APPROVED pseudo 3197 INFERRED 2923686 EEF1A1P16 eukaryotic translation elongation factor 1 alpha 1 pseudogene 16 12 12 12 p12.3 22287386 22288798 + 17034826 17036283 + 17143604 17145016 + 387845 ABBA01067914;AC023512;AMYH01004306;NG_022950 1681660;2146207 SHGC-5625;STS-U37558 pseudo 37889 INFERRED 6483998 EEF1A1P18 eukaryotic translation elongation factor 1 alpha 1 pseudogene 18 11 q 64792857 64794397 - 100887747 ABBA01024138;AMYH01003716;AP000436;NG_032766 pseudo 37891 INFERRED 1344814 EEF1A1P2 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 14 14 14 q31.1 62169439 62171296 + 81197429 81199486 + 82127777 82129634 + 319112 ABBA01030607;AL160192;AMYH01005906;NG_002494 pseudo 20008 INFERRED 2837388 EEF1A1P20 eukaryotic translation elongation factor 1 alpha 1 pseudogene 20 5 5 95215710 95217094 + 99332251 99333635 + 100421797 ABBA01069179;AC113407;AMYH01015500;NG_021893 pseudo 37893 INFERRED 2947544 EEF1A1P17 eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 12 12 12 q12 42842779 42856955 + 42326996 42341349 + 44040729 44054904 + 401717 ABBA01031419;AC090525;AMYH01004413;NG_022965 pseudo 37890 INFERRED 2837467 EEF1A1P19 eukaryotic translation elongation factor 1 alpha 1 pseudogene 19 5 5 43386304 43387686 - 43495178 43496556 - 100421796 ABBA01024257;AC114956;AMYH01015057;NG_021847 pseudo 37892 INFERRED 2816292 EEF1A1P21 eukaryotic translation elongation factor 1 alpha 1 pseudogene 21 4 4 30201162 30202500 + 29750381 29751719 + 100421807 ABBA01032764;AC109351;AMYH01014089;NG_022054 pseudo 37894 INFERRED 2816291 EEF1A1P23 eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 3 3 191711654 191712252 - 193296604 193297202 - 100421815 ABBA01058288;AC048351;AMYH01013773;NG_022235 pseudo 37896 INFERRED 1320911 EEA1 early endosome antigen 1 12 12 q22 91690416 91847238 - 93166285 93323107 - 1580863;6480464;6907045 10491193;11741531;11256955;7768953;9697774;17146146;17113235;16448788;16331966;15451443;15052657;14600265;12963735;12493736;12477932;12271471;11870209;11230696;11226253;10903204;10807926;10506127;10458612;10394369;10024533;18632619;11718716;11493665;15782196;15342556;20534488;12536145;14613930;15229288;15792797;15880641;16138080;16542649;20133936;21468601;20086096;16314522;19535332;22816767;21139048;21890473;21906983;20929444;10720461;18262180;15016378;20360068;22915584;21556036;18029348;15328530;18305041;21789505 8411 F8VUZ7;F8W119;F8WE79;Q15075 ABBA01053390;ABBA01053391;ABBA01053392;AC016136;AC021646;AC026111;AF173389;AK292008;AK307918;AMYH01004657;AMYH01004658;BC017837;BF515615;BP228986;BX648463;CH471054;L40157;NM_003566;X78998 AAA79121;AAH17837;AAI56546;AAI72504;AAQ13630;BAF84697;CAA55632;EAW97471;EAW97472;NP_003557;Q15075 Hs.567367 1720585;1795732;2115353;2157325;2174657;2176115;2178246;2182030;5092716 A005S12;A008T48;D12S2034;EEA1_1735;G32284;G59248;STS-X78998;WI-17463;WI-20439 MST105;MSTP105;ZFYVE2 OTTHUMP00000242845;early endosome antigen 1;early endosome-associated protein;endosome-associated protein p162;zinc finger FYVE domain-containing protein 2 protein-coding ENSG00000102189 3185 05460 605070 VALIDATED 3207652 EEF1A1P24 eukaryotic translation elongation factor 1 alpha 1 pseudogene 24 3 3 3 p22.1 39341619 39342993 + 39375040 39376736 + 39400036 39401410 + 22108332;22118674 645715 ABBA01024806;AC104850;AMYH01013099;NG_022246 pseudo 37897 INFERRED 2974930 EEF1A1P25 eukaryotic translation elongation factor 1 alpha 1 pseudogene 25 3 3 3 q22.3 136970346 136971609 + 140025406 140027861 + 138543905 138545168 + 646612 ABBA01059081;AC067728;AMYH01013533;NG_022276 pseudo 37898 INFERRED 3231962 EEF1A1P22 eukaryotic translation elongation factor 1 alpha 1 pseudogene 22 15 15 15 q21.3 30124449 30125828 - 51016334 51018048 - 53229336 53230715 - 23251661 645693 ABBA01039051;AC025041;AMYH01006654;NG_022970 pseudo 37895 INFERRED 3436169 EEF1A1P26 eukaryotic translation elongation factor 1 alpha 1 pseudogene 26 7 7 7 p21.2 14209549 14210868 + 14161708 14203545 + 14230431 14231750 + 100128637 AACC02000009;ABBA01056599;AC005039;AMYH01017080;CH236948;NG_022551;NG_029494 1713559;2169577 GDB:1318446;RH120266 pseudo 37899 INFERRED 3207701 EEF1A1P28 eukaryotic translation elongation factor 1 alpha 1 pseudogene 28 7 7 7 q21.13 82973083 82974753 + 88106264 88107672 + 88268266 88269936 + 442709 AACC02000015;ABBA01045858;AC006988;AMYH01017672;CH236949;NG_009429 pseudo 37902 INFERRED 3077628 EEF1A1P29 eukaryotic translation elongation factor 1 alpha 1 pseudogene 29 X X X q21.2 85654480 85655922 - 85301836 85303034 - 85414930 85416372 - 100130211 ABBA01051752;ABBA01051753;AL109752;AMYH01022665;NG_009085;NG_012817 pseudo 37904 INFERRED 3077627 EEF1A1P27 eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 7 7 7 p21.1 20605938 20607069 + 20560302 20589361 + 20621702 20622833 + 100130234 AACC02000007;ABBA01056675;AC003091;AC007095;AMYH01017103;CH236948;NG_022552 pseudo 37900 INFERRED 1344884 EEF1A1P3 eukaryotic translation elongation factor 1 alpha 1 pseudogene 3 13 13 q21 9863761 9865130 + 28788659 28790028 + 8812466;7833926;8812466 100421865 ABBA01035728;AL356915;AMYH01004993;NG_024908 EEF1AL;EEF1AL1 APPROVED pseudo 3194 INFERRED 1320306 EED embryonic ectoderm development This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 q14.2-q22.3 85633463 85667429 + 85955806 85989785 + 1580863;6480464 17937919;21190999;11124122;9584199;18302803;17804093;17547741;16357870;15385962;15225548;14759364;14610174;12943661;12788942;12477932;12435631;11158321;10581039;9880543;9806832;9765275;9742080;9584197;16075307;15875659;15638726;9566901;17210640;15882624;17041588;18931660;19767730;17560333;19578722;19026780;19026781;20974918;12351676;15536069;16314526;16431907;18285464;18483221;20800574;21540835;22733077;21513699;21530438;21890473;21906983;22308284;21123648;21135039;21143197;21900206;22271413;22315224;22659877 8726 E9PJK2;E9PMU3;H0YEL4;O75530 AA811323;ABBA01017325;ABBA01017326;AF070418;AF078933;AF080227;AF099032;AI378297;AK292120;AK294133;AK301265;AL546955;AMYH01003851;AP003084;BC047672;BC068995;CH471076;NG_029595;NM_003797;NM_152991;U90651 AAC23685;AAC68675;AAC95144;AAD08714;AAD08815;AAH47672;AAH68995;ABZ92272;BAF84809;BAG57461;BAG62829;EAW75129;EAW75130;EAW75131;NP_003788;NP_694536;O75530 Hs.503510 1797492 EED_2183 HEED;WAIT1 OTTHUMP00000235483;OTTHUMP00000235484;OTTHUMP00000235485;WD protein associating with integrin cytoplasmic tails 1;polycomb protein EED APPROVED protein-coding ENSG00000074266 3188 09343 605984 REVIEWED 736090 EDNRB endothelin receptor type B The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 13 13 q22 77367617 77447665 - 78513393 78549674 - 1580945;1580946;1580948;1580949;1580951;1580952;1601006;1601008;1581890;1580863;4144877;4892577;4892289;4892284;2313280;4892290;4892332;4892324;4892591;4892595;4892288;4892321;4892579;628515;1581866;6480464;6484113;7240710 16002759;14729387;12524016;15243299;10487491;10192234;8634719;8001158;8852658;20562228;18722366;18091567;20144075;19286964;17110505;21048781;15245576;20409845;17214938;18632188;17470272;18600494;8570650;15245872 8630503;18577758;9556633;12207323;8982507;8810293;19320733;19148482;19136571;19040731;18778461;18758497;18756291;18660489;18564167;18551992;18535108;18411415;18310504;18187958;18162831;18157142;17855483;17618893;17616673;17611649;17554617;17535295;17525706;17353514;17203161;17202412;17011274;17009072;16962346;16947775;16944573;16816835;16567585;16531800;16145050;15988412;15950764;15838285;15838263;15598844;15489334;15350137;15213100;15073116;14669347;14636059;14519635;12972292;12875994;12694195;12629276;12628594;12544508;12477932;12439722;12355085;12226103;12189494;12135322;12117726;11982704;11930911;11920632;11891690;11854280;11829485;11601839;11565556;11471546;11376172;10789830;10528251;10510297;10090908;10072757;9760196;9359036;9284755;9261180;9211925;8852660;8852659;16328051;8001160;7987295;2175394;1713452;1710450;1659806;1648908;1291713;1282938;8440682;8429023;22213152;21770857;22318606;19913121;20628086;19536618;19558538;19661472;19706169;19757321;19853744;20009762;20028935;20034471;20043107;20108069;20346360;20495744;18060649;20798208;20427706;20595785;20162572;21116278;20401344;16754659;20703215;20698855;21057729;22787113;19767294;22688668;22865454;21601190;21498912;23548203;21223556;21507037;22341591;21356562;21418087;21547364;21825025;21264540;21858821;22535604;20301612;21777246;22013079;22504006;22365955;22580289;23518706;22553998 1910 AAB24922;Q8NHM8 AB209198;ABBA01021669;AF114165;AJ458188;AJ458189;AJ458190;AJ458191;AK290699;AL139002;AMYH01005225;AY275463;AY547312;BC014472;BG436360;BM557607;CH471093;D13168;D90402;H28710;L06623;M74921;NG_011630;NM_000115;NM_001122659;NM_001201397;NM_003991;NR_047024;S44866;S57283;X99250 AAA52342;AAA58465;AAB19411;AAB24922;AAB25531;AAD24541;AAH14472;AAP32295;AAS38516;BAA02445;BAA14398;BAD92435;BAF83388;CAA67623;CAD30645;CAD30646;CAD30647;CAD30648;EAW80573;EAW80574;EAW80575;EAW80576;EAW80577;EAW80578;NP_000106;NP_001116131;NP_001188326;NP_003982;P24530 Hs.743195;Hs.82002 1657501;1662421;1713321;1795730;1852927;1853915 D13S1461;EDNRB_607;G15922;RH120654;RH68201;RH68202 ABCDS;ET-B;ET-BR;ETB;ETBR;ETRB;HSCR;HSCR2;WS4A ET-B;ET-BR;OTTHUMP00000018534;OTTHUMP00000178736;endothelin B receptor;endothelin receptor non-selective type APPROVED protein-coding ENSG00000136160 3180 08834 131244;277580;600155;600501 REVIEWED 3398758 EEF1A1P34 eukaryotic translation elongation factor 1 alpha 1 pseudogene 34 20 20 20 p11.23 18837353 18838616 - 18711068 18717356 - 18763071 18764334 - 100132358 ABBA01054055;AL035563;AMYH01011745;NG_021977 1688602;2115280 RH68013;RH93547 pseudo 37912 INFERRED 3184771 EEF1A1P33 eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 12 12 12 q23.1 96960875 96962479 - 95818593 95820607 - 97294872 97296476 - 390352 ABBA01053308;AC007564;AMYH01004684;NG_021698 pseudo 37911 INFERRED 3399027 EEF1A1P31 eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 X X X q28 154295836 154306225 - 153790293 153800681 - 154137099 154147487 - 553820 ABBA01029093;AMYH01023321;BX842559;NG_011403;NG_026783 1810614;1834782;2039976;2039978;2039980;2039982;2039984;2039986;2039988;2039990;2039992;2039994;2039996;2039998;2040000;2040002;2040004;2040006;2040008;2040010;2040012;2040014;2040016;2040018;2040020;2040022;2040178;2040180;2103004;2103006 ECD06300;ECD18539;REN91016;REN91017;REN91018;REN91019;REN91020;REN91021;REN91022;REN91023;REN91024;REN91025;REN91026;REN91027;REN91028;REN91029;REN91030;REN91031;REN91032;REN91033;REN91034;REN91035;REN91036;REN91037;REN91038;REN91039;REN91120;REN91121;stSG604344;stSG604345 pseudo 37908 INFERRED 2816309 EEF1A1P37 eukaryotic translation elongation factor 1 alpha 1 pseudogene 37 8 8 108424995 108425551 + 112237865 112238421 + 100421825 ABBA01037731;AMYH01018967;AP002980;NG_022431 pseudo 37915 INFERRED 3077670 EEF1A1P32 eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 1 1 1 q31.3 170780411 170782502 + 195924310 195926401 + 197657687 197659778 + 730232 ABBA01027590;AL365258;AMYH01001623;NG_022987 1764369 SHGC-147965 pseudo 37909 INFERRED 2802588 EEF1A1P30 eukaryotic translation elongation factor 1 alpha 1 pseudogene 30 X X X q24 119809884 119819463 - 119228332 119237910 - 119344304 119353882 - 402420 ABBA01049620;AC002086;AC240549;AMYH01022916;NG_023023 pseudo 37906 INFERRED 6480160 EEF1A1P39 eukaryotic translation elongation factor 1 alpha 1 pseudogene 39 10 p11.23 30590752 30591001 - 100862850 ABBA01034350;AL353796;AMYH01002216;NG_032140 FLJ10486 pseudo 37917 INFERRED 3418726 EEF1A1P35 eukaryotic translation elongation factor 1 alpha 1 pseudogene 35 4 4 4 q28.3 133302177 133303560 + 136186045 136187455 + 135966619 135968002 + 389223 ABBA01044887;AC104619;AMYH01014547;NG_022081 pseudo 37913 INFERRED 2816171 EEF1A1P36 eukaryotic translation elongation factor 1 alpha 1 pseudogene 36 6 6 133340003 133341350 + 132593121 132594468 + 100421820 ABBA01025881;AL023578;AMYH01016676;NG_022371 1806982;1809918;1810652;1814584;1919934;1919936;1919938;1919940;1919942;1919944;1919946;1919948;1919950;1919952;1919954;1919956;1919958;1919960;1919962;1919964;2191777 ECD04456;ECD05951;ECD06320;ECD08322;MARC_7355-7356:996687810:1;REN30785;REN30786;REN30787;REN30788;REN30789;REN30790;REN30791;REN30792;REN30793;REN30794;REN30795;REN30796;REN30797;REN30798;REN30799;REN30800 pseudo 37914 INFERRED 6480931 EEF1A1P40 eukaryotic translation elongation factor 1 alpha 1 pseudogene 40 X 106275478 106276050 + 100874490 ABBA01035850;AL158821;AL390039;AMYH01022826;NG_032199 pseudo 37918 INFERRED 6480928 EEF1A1P41 eukaryotic translation elongation factor 1 alpha 1 pseudogene 41 Y 2863108 2863314 - 100874491 ABBA01069773;AC006157;NG_032218 pseudo 38799 INFERRED 7247502 EEF1A1P42 eukaryotic translation elongation factor 1 alpha 1 pseudogene 42 442215 ABBA01050592;AL035687;AMYH01016338;NG_022298 pseudo 48927 INFERRED 1347390 EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 7 7 7 p15.3 22535286 22537032 - 22516351 22518294 - 22549936 22551681 - 8812466 221838 AACC02000007;ABBA01056690;AC002480;AMYH01017106;CH236948;NG_002353 EEF1AL4 APPROVED pseudo 3201 INFERRED 1349405 EEF1A1P8 eukaryotic translation elongation factor 1 alpha 1 pseudogene 8 3 3 3 q27.1 182186972 182188359 - 185226850 185228237 - 183744157 183745544 - 8812466 389179 ABBA01058465;AC068644;AMYH01013710;NG_006547 EEF1AL6 APPROVED pseudo 3203 INFERRED 1353677 EEF1A1P43 eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 p11.2 11840190;11882782;9847074 1918 AC020558;NG_032985 APPROVED pseudo 3193 INFERRED 1354117 EEF1A1P4 eukaryotic translation elongation factor 1 alpha 1 pseudogene 4 12 p12.3 19609185 19610582 - 8812466;8812466 100421854;1920 ABBA01067943;AC091805;AMYH01004313;NG_023989 EEF1AL2 APPROVED pseudo 3199 INFERRED 1351166 EEF1A1P9 eukaryotic translation elongation factor 1 alpha 1 pseudogene 9 4 4 4 q24 103705052 103706696 + 106625312 106626956 + 106405783 106407533 + 8812466;22108332;22118674 441032 ABBA01063735;AC004066;AMYH01014441;NG_029161 EEF1AL7 APPROVED pseudo 3204 INFERRED 1605437 EEF1B2P1 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 15 15 15 q21.2 29692282 29693161 + 50584506 50585500 + 52797226 52798105 + 11597139;1710449 1932 ABBA01039062;AC025917;AMYH01006652;NG_003045 EEF1B1;EF1B APPROVED pseudo 3207 INFERRED 1352171 EEF1A1P7 eukaryotic translation elongation factor 1 alpha 1 pseudogene 7 19 19 19 q13.12 32586537 32588420 + 40564914 40566797 + 35873074 35874957 + 8812466 390924 ABBA01018743;AC002511;AMYH01009728;NG_008815 EEF1AL5 APPROVED pseudo 3202 INFERRED 1345659 EEF1B2P3 eukaryotic translation elongation factor 1 beta 2 pseudogene 3 X X X p22.11 28927675 28930100 - 24716369 24717149 - 24806464 24807227 - 11181995;8250921 644820 ABBA01072360;AC079375;AMYH01022166;CH471074;NG_008008;NG_016798 EAW99030 EEF1B4 APPROVED pseudo 3210 INFERRED 1349270 EEF1B2P2 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 5 5 5 q13.1 64453358 64454218 - 67490782 67491642 - 67455003 67455790 - 12920118;8250921 1934 ABBA01048297;AC104120;AMYH01015140;L26404;NG_003038 2112214 D5S2782 BETA-3;EEF-1;EEF-1BETA5A;EEF1B;EEF1B3 APPROVED pseudo 3209 INFERRED 5132830 EEF1B2P4 eukaryotic translation elongation factor 1 beta 2 pseudogene 4 12 12 12 q23.3 106960599 106961759 - 105819191 105820246 - 107295016 107296176 - 100130631 ABBA01053160;AC007695;AMYH01004725;NG_021699 pseudo 32475 INFERRED 3235149 EEF1A1P38 eukaryotic translation elongation factor 1 alpha 1 pseudogene 38 16 16 16 p12.1 25920850 25922546 - 27052305 27054001 - 27144804 27146500 - 124199 ABBA01017148;AC092725;AMYH01007402;NG_022963 pseudo 37916 INFERRED 1349840 EEF1A1P5 eukaryotic translation elongation factor 1 alpha 1 pseudogene 5 9 9 9 q34.13 106436550 106438290 + 134884643 134886383 + 135894822 135896562 + 8812466;19287380;21906983;21987572;22108332;22118674;19380743 158078 Q5VTE0 ABBA01032475;AL593851;AMYH01021794;NG_002350 Q5VTE0 1298165;1666300 D9S1112;D9S915 EEF1AL3 APPROVED pseudo 3200 INFERRED 1626262 EEF1DP2 eukaryotic translation elongation factor 1 delta pseudogene 2 9 9 9 q22.31 66041118 66042102 - 94638869 94639778 - 95599048 95600023 - 442429 ABBA01018596;AL136981;AMYH01021510;NG_006527 2181135 RH48561 KIAA0699 pseudo 33523 INFERRED 1626259 EEF1DP1 eukaryotic translation elongation factor 1 delta pseudogene 1 19 19 19 p13.12 14074939 14075929 + 14042141 14043161 + 14181137 14182116 + 11181995 126037 ABBA01029692;AC022098;AMYH01009519;CH471106;NG_006512 EAW84392 1760129;2131962 D19S994;SHGC-132015 pseudo 32474 INFERRED 5132829 EEF1B2P5 eukaryotic translation elongation factor 1 beta 2 pseudogene 5 6 6 6 q12 62350616 62352393 + 64247998 64249775 + 64189983 64191831 + 19615732 442227 ABBA01023961;AL390854;AMYH01016387;NG_029026 pseudo 32476 INFERRED 1626263 EEF1DP4 eukaryotic translation elongation factor 1 delta pseudogene 4 7 7 7 q11.21 58042375 58043887 + 63960829 63962195 + 64323329 64324839 + 9847074 442325 ABBA01027986;AC073349;AMYH01017436;NG_006526 FLJ26697 pseudo 22598 INFERRED 1626265 EEF1DP5 eukaryotic translation elongation factor 1 delta pseudogene 5 6 6 6 q22.33 129647729 129648423 - 128943386 128943601 - 128901393 128902087 - 442258 ABBA01025920;AL080315;AMYH01016660;NG_006525 pseudo 33524 INFERRED 7174916 EEF1GP1 eukaryotic translation elongation factor 1 gamma pseudogene 1 7 q31.33 124673487 124675443 + 9847074 646837 AACC02000001;ABBA01057709;AC073322;AMYH01017908;CH236947;NG_009408 pseudo 44556 INFERRED 1606432 EEF1DP3 eukaryotic translation elongation factor 1 delta pseudogene 3 13 13 13 q13.1 13487913 13600682 + 31418114 31425540 + 32420920 32533721 + 6480464 16344560;16189514;12477932 196549 Q658K8 ABBA01010128;AC002525;AL138708;AL833768;AMYH01005020;BC021729;BC125059;BC125060;CH471075;DA657873;NR_027062 CAH56242;EAX08486 Hs.507667 1336559;1660002;1691414;1691416;1691418;1691456;1691458;1691460;1691462;1691464;1691466;1691468;1691470;1691472;1691474;1691476;1691478;1691480;1691482;1691484;1691486;1691488;1691490;1691492;1757587;1794334;2161032;7187560 D13S260;G41856;G42104;G42105;G42106;G42125;G42126;G42127;G42128;G42129;G42130;G42131;G42132;G42133;G42134;G42135;G42136;G42137;G42138;G42139;G42140;G42141;G42142;G42143;PMC311033P5;RH47659;SHGC-145049 MGC149669;MGC149670 pseudo 30486 08314 PROVISIONAL 7174766 EEF1GP2 eukaryotic translation elongation factor 1 gamma pseudogene 2 5 q32 147301745 147302985 + 100130260 ABBA01026321;AC011352;AMYH01015693;NG_021900 pseudo 44557 INFERRED 7174969 EEF1GP3 eukaryotic translation elongation factor 1 gamma pseudogene 3 3 p22.1 40637613 40639010 - 651628 ABBA01024789;AC122683;AMYH01013102;NG_022201 pseudo 44558 INFERRED 7174763 EEF1GP4 eukaryotic translation elongation factor 1 gamma pseudogene 4 3 q26.1 161042625 161044026 - 100129403 ABBA01058789;AC128652;AMYH01013616;NG_022225 1749895 SHGC-111622 pseudo 44559 INFERRED 7174909 EEF1GP5 eukaryotic translation elongation factor 1 gamma pseudogene 5 X q23 114937111 114938515 + 642357 ABBA01053722;AC005000;AMYH01022855;NG_022907 pseudo 44560 INFERRED 7174908 EEF1GP6 eukaryotic translation elongation factor 1 gamma pseudogene 6 6 97198676 97199604 + 100421733 ABBA01014524;AL033379;AMYH01016528;NG_025966 pseudo 44561 INFERRED 7174918 EEF1GP7 eukaryotic translation elongation factor 1 gamma pseudogene 7 1 p32.3 53038787 53039490 + 645311 ABBA01074769;AL591167;AMYH01000621;NG_022779 pseudo 44562 INFERRED 7174982 EEF1GP8 eukaryotic translation elongation factor 1 gamma pseudogene 8 4 q28.2 130824156 130825399 + 391698 ABBA01044837;AC079857;AMYH01014520;NG_022079 1744307 GDB:451619 pseudo 44563 INFERRED 68966 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008] 6 6 q14.1 74282194 74287476 - 74225473 74230755 - 6480464 3512269;15231747;16828757;17373842;18000879;15189156;8812466;10368288;2564392;19487283;19464723;19158340;19026636;18853312;18820646;18688046;18459963;18448518;18331827;18263879;18221514;18079119;17998013;17825975;17719568;17640892;17595531;17332776;16916647;16689924;16583711;16354621;16289162;16169070;15952740;15862967;15835887;15716006;15695360;15635413;15592455;15489334;15383276;15324660;15231748;15109557;14996095;14702039;14623968;12840015;12594214;12477932;12426393;12426392;12354112;11886851;11854414;11829477;11690632;11689615;11672422;10941842;10851272;10364286;10094407;9852145;9465091;9407120;9310071;8743958;8626763;8125298;7890750;7806521;7542776;6568109;3960725;3570288;3346208;3169261;2569467;2556394;2183196;17803295;19486527;20211142;17124247;17361185;19471103;19478083;19559761;19636410;20030628;20099848;20716364;19321449;15107835;17707232;19394292;19454010;16159877;16226712;20545466;20832312;20838377;18406329;12898421;18172692;21145461;21319273;22939629;16335966;22357952;22863883;22990118;22360420;17342744;19135240;19156129;19167051;20618440;21151833;16196087;21697493;21252943;20972266;21139048;21693764;21890473;21906983;12777385;15852347;18274552;18624398;20639865;20849852;21343306;21689717;21900206;21987572;22079093;22095224;22108332;22118674;22178446;19013454;21110914;18632687;19193609;19349277;21628590;22779921;19471022;21704614;22231398;22355332;17620599;22399298;22499008;22531302;18502210;15452250;17266347;19738201;19805454;20085233;20391533;21565611;21963094;21988832;22623428;22751105;22810585;23000965;23077236;23084401;23184937;23246001;23260144;22931638;22569823;16712842;19380743;20016921;21853274;22053931;22174317;22505724;22628567;22797925;22952844 1915 A6PW80;P68104;Q5JR01;Q6IPS9 ABBA01040326;AF174496;AF328730;AF397403;AJ420488;AK024888;AK026650;AK055058;AK058051;AK058082;AK058163;AK098510;AK098518;AK098587;AK098623;AK127384;AK222515;AK222519;AK222523;AK222551;AK222982;AK223030;AK223042;AK223046;AK289374;AK289442;AK290691;AK292639;AK297878;AK300922;AK304214;AK315827;AL603910;AMYH01016425;AY043301;BC008587;BC009733;BC009875;BC010735;BC012509;BC012891;BC014224;BC014377;BC014892;BC018150;BC018641;BC018850;BC019050;BC019669;BC020477;BC021686;BC022412;BC028674;BC029337;BC029343;BC029997;BC035877;BC038339;BC038897;BC057391;BC063511;BC065761;BC066893;BC066894;BC070131;BC070500;BC071619;BC071727;BC071741;BC071841;BC072385;BC082268;BC094687;BC111051;CH471051;DQ185041;DQ867534;EF219140;EF362804;HC250971;HC311160;J04617;M27364;M29548;NM_001402;X03558;X03689;X16869 AAA52343;AAA52344;AAA52367;AAF36537;AAH08587;AAH09733;AAH09875;AAH10735;AAH12509;AAH12891;AAH14224;AAH14377;AAH14892;AAH18150;AAH18641;AAH21686;AAH22412;AAH28674;AAH38339;AAH57391;AAH63511;AAH65761;AAH66893;AAH70131;AAH70500;AAH71619;AAH71727;AAH71741;AAH71841;AAH72385;AAH82268;AAH94687;AAI11052;AAK93966;AAK95378;AAN09722;ABD14421;ABI74620;ABM82376;ABM85555;ABO30531;BAD96235;BAD96239;BAD96243;BAD96271;BAD96702;BAD96750;BAD96762;BAD96766;BAF82063;BAF82131;BAF83380;BAF85328;BAF98718;BAG51457;BAG54498;BAG60202;BAG62554;BAG65087;CAA27245;CAA27325;CAA34756;CBJ05783;CBJ21235;EAW48759;NP_001393;P68104 Hs.535192;Hs.586423;Hs.745122 1652032;1798730;1800998;1801158;1801462;1802210;1805282;1805484;1806884;1812754;1814306;1819590;1827050;1828890;1843406;1924540;1924542;1924544;1924546;1924548;1924550;1924552;1924554;1924556;1924558;1924560;1924562;1924564;1924566;1924568;1924570;1924572;1924574;1924576;1924578;1924580;1924582;1924584;1924586;1924588;1924590;1924592;1924594;1924596;1924598;1924600;2178193;2191777;2207434;2207436;2207438;2207440;2207442;2207444;5016480;5016879;5022322;5022373;5024454;5024623;5113442;5117955 D11S2560;D1S3313;D7S723;ECD00205;ECD01365;ECD01451;ECD01606;ECD01636;ECD01988;ECD03587;ECD03690;ECD04407;ECD07388;ECD08182;ECD10862;ECD14640;ECD15572;ECD22912;GDB:555019;GDB:632624;MARC_7355-7356:996687810:1;REN33095;REN33096;REN33097;REN33098;REN33099;REN33100;REN33101;REN33102;REN33103;REN33104;REN33105;REN33106;REN33107;REN33108;REN33109;REN33110;REN33111;REN33112;REN33113;REN33114;REN33115;REN33116;REN33117;REN33118;REN33119;REN33120;REN33121;REN33122;REN33123;REN33124;REN33125;RH47178;RH65848;SHGC-178;STS-W63684;stSG625946;stSG625947;stSG625948;stSG625949;stSG625950;stSG625951 CCS-3;CCS3;EE1A1;EEF-1;EEF1A;EF-Tu;EF1A;FLJ25721;GRAF-1EF;HNGC:16303;LENG7;MGC102687;MGC131894;MGC16224;PTI1;eEF1A-1 CTCL tumor antigen;EF-1-alpha-1;EF1a-like protein;OTTHUMP00000016736;OTTHUMP00000063804;OTTHUMP00000063805;cervical cancer suppressor 3;elongation factor 1 alpha subunit;elongation factor 1-alpha 1;elongation factor Tu;eukaryotic elongation factor 1 A-1;eukaryotic translation elongation factor 1 alpha 1-like 14;glucocorticoid receptor AF-1 specific elongation factor;leukocyte receptor cluster (LRC) member 7;leukocyte receptor cluster member 7;prostate tumor-inducing protein 1;translation elongation factor 1 alpha 1-like 14 APPROVED protein-coding 3189 00559 130590 REVIEWED 1344342 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 20 20 q13.3 61589810 61600949 - 62119365 62130668 - 1580863;2303420;6480464 12053177 17353931;19138673;18474610;17908984;17825975;17437010;17130842;17088255;16369491;16156888;15952740;15893736;15635413;15592455;15489334;14702039;14588074;12477932;12048193;11780052;10950927;8812466;8626763;8354261;7945283;812466;20505761;18322813;18978249;19636410;19723040;19966453;3902853;3968178;17267499;21145461;20819441;20864512;16159877;16226712;22939629;20462248;18781797;22863883;15717329;18274552;21851817;21900206;22095224;22178446;21139048;21890473;21906983;21110914;16009940;20473970;21628590;17620599;22354994;21853274;22337587;22505724 1917 Q05639;Q59GP5 AB209064;AB451389;ABBA01021397;ABBA01021398;ABBA01021399;ABBA01021400;ABBA01021401;AF163763;AK123690;AK307536;AL121829;AMYH01012082;BC000432;BC018855;BC110409;BM476361;BQ944047;CH471077;L10340;NM_001958;X70940 AAA91835;AAF80488;AAH00432;AAI10410;ABM85496;BAD92301;BAG70203;CAA50280;EAW75259;EAW75260;NP_001949;Q05639 Hs.433839 1712545;1728985 L26479;UniSTS:142970 EEF1AL;EF-1-alpha-2;EF1A;FLJ41696;HS1;STN;STNL OTTHUMP00000031776;eEF1A-2;elongation factor 1-alpha 2;elongation factor-1 alpha;eukaryotic elongation factor 1 A-2;statin S1;statin-S1;statin-like APPROVED protein-coding ENSG00000101210 3192 04265 602959 VALIDATED 1322866 EEF1B2 eukaryotic translation elongation factor 1 beta 2 This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008] 2 2 q33.3 206732563 206735898 + 207024318 207027653 + 1580863;6480464 1710449;16169070;17353931;1886777;15189156;10368288;19487283;17081983;16341674;16189514;15815621;15489334;15345747;15341733;15302935;14729942;14623968;12477932;11829477;11597139;10094407;9407120;8743958;8573604;8547318;8250921;3169261;2556394;7821789;1286669;1286667;14519448;16159877;16226712;21145461;21832049;22863883;22939629;15047060;16196087;19135240;20000738;21139048;21890473;21906983;21628590;22234250;23184937;19738201;22113938;22623428;23000965;22053931 1933 C9JZW3;F2Z2G2;F8WF65;F8WFC9;P24534 ABBA01062650;AC007383;AK291910;AK310096;AMYH01011436;BC000211;BC004931;BC029316;BC067787;BF669470;BM747256;BT007079;BU565415;BU627453;CH471063;CR456825;D28350;NG_009248;NM_001037663;NM_001959;NM_021121;S81522;X60489;X60656 AAH00211;AAH04931;AAH67787;AAP35742;AAY15062;ADZ15825;BAA05716;BAF84599;CAA43019;CAA43063;CAG33106;EAW70381;EAW70382;NP_001032752;NP_001950;NP_066944;P24534 Hs.421608 5020894;5113065 G19935;RH66863 EEF1B;EEF1B1;EF1B EF-1-beta;OTTHUMP00000163805;OTTHUMP00000206335;OTTHUMP00000206336;elongation factor 1-beta;eukaryotic translation elongation factor 1 beta 1 APPROVED protein-coding ENSG00000114942 3208 02804 600655 REVIEWED 1344802 EEGV1 electro-encephalographic variant pattern 1 1346390 1940 3215 1322308 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010] 6 6 6 p24.3 9302889 9332123 - 8024638 8047780 - 8073593 8102828 - 1298632;1580863;6480464 9653160 19024604;18343821;15680327;15489334;15342556;14574404;12477932;11329013;11042152;18029348;11714285;16055448;20201926;8052601;8078941;8188258;8449960;9278442;22867704;22939629;21789020;22863883;21628590;21139048;21890473;21906983;22106287;22190034;22944692 9521 D6RBD7;D6RCQ0;H0YAH9;H0YAL7;O43324 AB011079;ABBA01022053;AF054186;AI374688;AI394376;AL023694;AL355499;AL451187;AMYH01016065;AV714140;BC005291;BG183264;BP235196;BT007306;CH471087;CK002875;NM_001135650;NM_004280 AAC39916;AAH05291;AAP35970;ABM84428;ABW03577;BAA24926;EAW55227;NP_001129122;NP_004271;O43324 Hs.602353;Hs.744438 1667384;1753011;2108045;2159992 D6S1855;EEF1E1_7949;RH46795;SHGC-65844 AIMP3;P18 ARS-interacting multifunctional protein 3;OTTHUMP00000016008;OTTHUMP00000221319;OTTHUMP00000221320;OTTHUMP00000221321;OTTHUMP00000221323;aminoacyl tRNA synthetase complex-interacting multifunctional protein 3;elongation factor p18;eukaryotic translation elongation factor 1 epsilon-1;multisynthase complex auxiliary component p18;p18 component of aminoacyl-tRNA synthetase complex APPROVED protein-coding ENSG00000124802 3212 10931 609206 REVIEWED 1323465 EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010] 8 8 q24.3 144733041 144750726 - 144661867 144679845 - 1580863;6480464 15062873;14702039;14623968;12975309;12773547;12551973;12477932;12210501;11829477;10567582;10094407;9677419;9610721;9568107;9514931;9407120;9353277;8743958;8294461;8125298;8051108;3169261;2556394;2207149;2061327;17353931;12761501;15189156;10368288;8334168;17997862;17081983;16968546;16807684;16189514;16169070;16097034;15489334;15199388;15146197;16341674;16344560;8889548;15604093;15867431;16159877;19454010;20514991;21145461;21319273;22863883;21633900;17500595;22939629;19135240;21139048;21890473;21906983;21936567;21963094;18781797;21987572;22145905;21044950;21628590;19380743;21853274;22053931 1936 B2RAR6;D3DWK1;E9PI39;E9PI93;E9PIP5;E9PIZ1;E9PJ84;E9PJD0;E9PJV8;E9PK01;E9PK06;E9PK72;E9PKH7;E9PKK3;E9PL12;E9PL21;E9PL71;E9PLA1;E9PLL8;E9PLS6;E9PLT8;E9PM66;E9PMW7;E9PN56;E9PN71;E9PN91;E9PNC8;E9PNW6;E9PPR1;E9PPY1;E9PQ49;E9PQC9;E9PQR8;E9PQZ1;E9PRL0;E9PRY8;H0YCK7;H0YE58;H0YE72;P29692 ABBA01005247;AC067930;AF370363;AI366989;AK024550;AK093756;AK225040;AK225243;AK225270;AK293339;AK314311;AL833379;AMYH01019110;AY358690;BC000678;BC007847;BC009907;BC012819;BC046445;BC062535;BC071840;BC094806;BG748894;BI667117;BQ064320;BQ083927;BQ686171;BT007242;CF128478;CH471162;CN424083;CN424105;CX787126;DA948687;DA977213;NM_001130053;NM_001130055;NM_001130056;NM_001130057;NM_001195203;NM_001960;NM_032378;Z21507 AAH00678;AAH07847;AAH09907;AAH12819;AAH62535;AAH94806;AAP35906;AAQ15199;AAQ89053;ADZ15341;BAB14925;BAG36963;BAG56855;CAA79716;EAW82227;EAW82228;EAW82229;EAW82230;EAW82231;EAW82232;EAW82233;EAW82234;EAW82235;NP_001123525;NP_001123527;NP_001123528;NP_001123529;NP_001182132;NP_001951;NP_115754;P29692 Hs.333388;Hs.686554;Hs.703306 1680521;1760129;2131962;5024706 D19S994;RH79617;RH80155;SHGC-132015 EF-1D;EF1D;FLJ20897;FP1047 EF-1-delta;OTTHUMP00000228834;OTTHUMP00000228835;OTTHUMP00000228854;OTTHUMP00000228855;OTTHUMP00000228856;OTTHUMP00000228857;OTTHUMP00000231014;OTTHUMP00000231015;OTTHUMP00000231272;OTTHUMP00000231355;OTTHUMP00000231356;OTTHUMP00000231357;OTTHUMP00000231358;OTTHUMP00000231359;OTTHUMP00000231460;antigen NY-CO-4;elongation factor 1-delta;guanine nucleotide exchange protein APPROVED protein-coding ENSG00000104529 3211 00560 130592 REVIEWED 1349957 EEF1G eukaryotic translation elongation factor 1 gamma This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008] 11 11 q12.3 62083649 62098036 - 62327073 62341460 - 1580863;6480464 22536838;10908348;15189156;10368288;17719568;17220478;17081983;16189514;16169070;15635413;15489334;15383276;15324660;15231748;14702039;12840015;12766415;12690205;12665801;12477932;11829477;11504921;10094407;9407120;7703850;1598220;1461723;1372736;3169261;14519448;16548883;17215244;20029029;19394292;21145461;21319273;21217813;22863883;22939629;16196087;17314511;19167051;21800051;21110914;18781797;19343720;19596686;20639865;21081666;21139048;21890473;21900206;21906983;21987572;16009940;21628590;20462248;23077236;23106098;23184937;19380743;22053931;22505724;22628567;22797925;22944692 1937 B4DTG2;P26641;Q53YD7 ABBA01003228;ABBA01003229;AK092787;AK129569;AK129618;AK130026;AK299876;AK300203;AK300686;AK300729;AL556034;AMYH01003690;AP001363;AP002990;AY542307;AY687925;BC000384;BC006509;BC006520;BC007949;BC009865;BC013918;BC015813;BC018853;BC018857;BC019051;BC021974;BC024274;BC028179;BC031012;BC067738;BQ947806;BT006677;CH471076;CR407625;DQ185034;DQ185040;M55409;NM_001404;X63526;Z11531 AAC18414;AAH00384;AAH06509;AAH06520;AAH07949;AAH09865;AAH13918;AAH15813;AAH21974;AAH28179;AAH31012;AAH67738;AAP35323;AAT08176;ABD14418;ABD14420;ABM82029;ABM85210;BAG61726;BAG61974;BAG62369;BAG62402;CAA45089;CAA77630;CAG28553;EAW74023;EAW74024;EAW74025;EAW74026;EAW74027;EAW74028;NP_001395;P26641 Hs.144835;Hs.444467 1649510;1683637;1744307;2127407;5014717;5021098;5021720;5024611;5493721 D7S2869;DXS6993E;GDB:451619;RH15603;RH66302;SHGC-2363;SHGC-57995;UniSTS:493314;ksks40 EF1G;GIG35 EF-1-gamma;OTTHUMP00000236167;PRO1608;eEF-1B gamma;elongation factor 1-gamma;pancreatic tumor-related protein;translation elongation factor eEF-1 gamma chain APPROVED protein-coding ENSG00000254772 3213 11745 130593 REVIEWED 1604801 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA-specific 3 3 3 q21.3 126301728 126556922 + 129355003 129610179 + 127872313 128127489 + 6480464 18948268;16641997;15229221;12477932;10970870;19767754;20379614;21102462;20877624;20878950;20811636;22939629;21139048 60678 C9J8T0;P57772;Q96HZ6 ABBA01020893;ABBA01020894;AF268872;AL449210;AL449214;AL449217;AMYH01013462;BC007933;BG420135;CH471052;NM_021937 AAG13375;AAH07933;ABM84184;ABM87586;EAW79322;NP_068756;P57772 Hs.477498 1670576;1709014;1765969;1773709;2113746;2124325;2126795;2183101 AB071121;RH45946;SGC38238;SHGC-149361;SHGC-77300;SHGC-79575;STS-H99745;UniSTS:29892 EFSEC;SELB OTTHUMP00000216132;OTTHUMP00000216246;elongation factor for selenoprotein translation;elongation factor sec;selenocysteine-specific elongation factor protein-coding ENSG00000132394 24614 07409 607695 VALIDATED 1351780 EEF2K eukaryotic elongation factor-2 kinase This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008] 16 16 p12.2 22125093 22207567 + 22217592 22300066 + 728634;1580863;6480464;6484113 9144159 15809305;18337751;17081983;16964243;16921268;16344560;16098202;15144186;15024086;14709557;14702039;12477932;12171600;12107410;12051769;11500364;11500363;11171059;11015200;8386634;3693353;19636416;20379614;15867377;20300520;22863883;22932089;23184662;21278783;22269896;22216903;22329831;21890473;21906983;22115317;19322201;22669845;22911754;23000965;22053931;22505724;22749997;23455922;23640883;23706743 29904 H3BRH4;O00418 ABBA01003842;ABBA01003843;ABBA01003844;ABBA01003845;AC009034;AK022569;AK308757;AMYH01007348;AW675420;BC032665;CA397138;CH471249;DA556486;DA735877;NM_013302;U93850 AAB58270;AAH32665;ABM81822;ABM84976;EAW50604;NP_037434;O00418 Hs.498892 1644744;1737299;1755037;1777059;1853392;2108047;2154394;5015619;5022578;5022651 D11S2921;D11S3114;D16S2643;D1S1423;EEF2K_8025;RH15649;RH70484;SHGC-141982;SHGC-6052;WI-11344 HSU93850;MGC45041;eEF-2K OTTHUMP00000119998;calcium/calmodulin-dependent eukaryotic elongation factor 2 kinase;calcium/calmodulin-dependent eukaryotic elongation factor-2 kinase;calmodulin-dependent protein kinase III;eEF-2 kinase;elongation factor-2 kinase;eukaroytic elongation factor 2 kinase;eukaryotic elongation factor 2 kinase APPROVED protein-coding 24615 07369 606968 REVIEWED 1606501 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 7 7 7 p14.2 36177448 36325726 + 36159361 36307677 + 36192836 36341152 + 6480464 14702039;12690205;12477932;11214970;20379614;21507922;21832049;21890473;23251661 80820 H7C4A5;Q7L9B9 AACC02000036;AB051493;ABBA01056899;ABBA01056900;AC007327;AC078841;AF161370;AK027386;AMYH01017181;BC011692;BC065518;CH236951;CH471073;DN998549;NM_030636 AAF28930;AAH65518;BAB21797;BAB55076;EAL23976;EAW94063;NP_085139;Q7L9B9 Hs.487994;Hs.670591 1341720;1644475;1652349;1667985;1672302;1674303;1783444;1856372;2115470;5119217;7186115 A005Z10;A007H36;D7S1422;D7S2251;D7S2384E;GDB:1317152;GDB:1318154;RH41961;SHGC-172301;SHGC-56042 HSPC107;KIAA1706 OTTHUMP00000206928;endonuclease/exonuclease/phosphatase family domain-containing protein 1 protein-coding ENSG00000122547 22223 13884 VALIDATED 1343628 EEF2 eukaryotic translation elongation factor 2 This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008] 19 19 p13.3 3927054 3936461 - 3976054 3985461 - 1580863;6480464;6484113 16097034;12891704;23077236;23106098;23184662;23184937;23190606;22536838;17220478;15189156;18809582;19036825;17081983;16964243;16648488;16520893;16344560;16098202;15952740;15835887;15635413;15534876;15489334;15302935;14594813;12477932;12171600;8386634;8318952;6427766;3693353;3034518;2840927;2610926;2318846;1596361;20431927;17540176;19360331;20181627;20379614;20708687;21145461;21319273;22939629;19417104;22863883;21554491;22269896;16196087;19135240;21132439;21151833;21800051;12777385;17043677;17623298;17955473;19596686;20639865;21987572;22020937;22079093;22118674;22308030;21252943;16009940;20473970;21628590;22669845;21110914;20972266;21139048;21890473;21906983;21907836;21963094;17620599;16712842;17586317;17824250;19275587;21853274;22053931;22505724;22797925;22944692;22952844 1938 M0R0I6;P13639 ABBA01002861;AC011488;AC016586;AK297398;AK298498;AK299225;AMYH01009320;AMYH01009321;AU118535;AY942181;BC006547;BC024689;BC126259;BC136313;CH471139;M19997;NM_001961;X51466;Z11692 AAA50388;AAH06547;AAH24689;AAI26260;AAI36314;AAX34409;ADR83418;BAG59838;BAG60705;BAG61260;CAA35829;CAA77750;EAW69274;EAW69275;NP_001952;P13639 Hs.515070 1689111;1734630;1734648;1767277;2190499 D19S634E;D19S643E;EST11A2;RH78243;RH80123 EEF-2;EF-2;EF2 EF-2;elongation factor 2;polypeptidyl-tRNA translocase APPROVED protein-coding ENSG00000167658 3214 00561 130610 REVIEWED 6766948 EFCAB14-AS1 EFCAB14 antisense RNA 1 1 p33 47139708 47157770 + 22095909 100130197 AA993124;ABBA01050836;AL593856;AMYH01000588;BE504902;BX113937;NR_038827;NR_038828 Hs.568643 1673773;1699836;1781844;1855499 RH103525;SHGC-81672;WI-11938;WI-18600 KIAA0494-AS1 APPROVED miscrna ENSG00000228237 44108 VALIDATED 2301274 EFCAB10 EF-hand calcium binding domain 10 7 7 7 q22.3 100010699 100027094 - 104992689 105009177 - 105205580 105221976 - 6480464 16344560;12853948;12477932 100130771 A6NFE3;C9J654;J3KR48;J3KR52 AACC02000004;ABBA01057943;ABBA01057944;AC073073;AMYH01017819;BC105284;CH236947;DA101957;NR_027068 A6NFE3 Hs.719432 1791840 PMC127671P1 miscrna ENSG00000185055 34531 PREDICTED 1343471 EFCAB11 EF-hand calcium binding domain 11 14 14 14 q32.11 70310740 70468290 - 89333222 89490842 - 90263469 90421089 - 6480464 14702039;12477932;21105107;21906983;21890473;23319000;23400010 90141 B7Z5G9;F8WA99;G3V5G1;H0YJX4;Q9BUY7 ABBA01030511;ABBA01030512;AK094740;AK298930;AK310331;AL137128;AL137230;AL163011;AL832321;AMYH01005942;BC001787;BX161414;BX247991;CF593330;CH471061;NM_145231 AAH01787;BAG52922;BAH12905;CAD38616;CAD61889;CAD62325;EAW81411;EAW81412;NP_660274;Q9BUY7 Hs.123232 1668413;1715305;1765915;1765951;2128609;2140034;2151604;2159175;2180586;5037552 D14S953;D8S2279;G35448;G35756;G35913;G36100;G36266;RH120483;SHGC-149324;SHGC-149350 C14orf143;DKFZp547I1415;FLJ51529 CG11165-like;EF-hand calcium-binding domain-containing protein 11;EF-hand domain-containing protein C14orf143;OTTHUMP00000192900;OTTHUMP00000244834;OTTHUMP00000244835;OTTHUMP00000244836;OTTHUMP00000244838 APPROVED protein-coding 20357 16609 VALIDATED 1603006 EFCAB1 EF-hand calcium binding domain 1 8 8 8 q11.21 45614709 45635104 - 49798520 49810344 - 49627474 49647870 - 6480464 16344560;15489334;15342556;14702039;12477932;8889548;21658281;20479155;17207965;22318606 79645 H0YBJ9;H0YC53;H9KVD9;Q9HAE3 ABBA01041654;ABBA01041655;AC022915;AK021829;AK299659;AK307101;AK316037;AMYH01018704;BC025676;BC029586;BP375493;CB250588;CH471068;DA174619;DB204697;DB536362;DB552638;DC336596;NM_001142857;NM_024593;NR_024605 AAH25676;ADQ32617;BAB13906;BAG61576;BAH14408;EAW86692;EAW86693;EAW86694;EAW86695;EAW86696;EAW86697;EAW86698;NP_001136329;NP_078869;Q9HAE3 Hs.23245 1677937;1694806 G43632;RH94007 FLJ11767 EF-hand calcium-binding domain-containing protein 1;OTTHUMP00000226175;OTTHUMP00000226177 protein-coding ENSG00000034239 25678 08565 VALIDATED 1602666 EFCAB12 EF-hand calcium binding domain 12 3 3 3 q21.3 127547004 127574330 - 130602854 130630184 - 129120164 129147494 - 6480464 15489334;14702039;12477932;20379614 90288 D6RFI2;Q6NXP0 ABBA01059231;AK057281;AK096099;AK127968;AL133011;AL449212;AMYH01013476;BC031104;BC066975;CH471052;NM_207307 AAH66975;ADZ15614;BAG53211;BAG54608;CAH10712;EAW79256;EAW79257;NP_997190;Q6NXP0 Hs.652347 5015959;5037552;5037554 D10S2448;D8S2279;D8S2282 C3orf25 EF-hand calcium-binding domain-containing protein 12;EF-hand domain-containing protein C3orf25;OTTHUMP00000215414 APPROVED protein-coding ENSG00000172771 28061 11276 PROVISIONAL 1606737 EFCAB13 EF-hand calcium binding domain 13 17 17 17 q21.32 41851460 41969905 + 42756346 42873677 + 45401327 45518678 + 15489334;12477932;14702039;18029348;20686565 124989 E5RFW6;E5RI18;H0YBI2;K7ELL9;Q8IY85 ABBA01041118;ABBA01041119;ABBA01041120;AC040934;AC068234;AK097661;AMYH01008446;AMYH01008447;BC036407;BC037876;BC044604;BX471329;BX537519;CH471231;NM_001195192;NM_152347 AAH36407;AAH37876;ACE87809;ACT64490;BAC05135;CAD97771;EAW57671;EAW57672;NP_001182121;NP_689560;Q8IY85 Hs.463303 1644006;1654116;1654305;1748573;2138024 1028;D17S848E;RH45935;SHGC-110237;WI-17308 C17orf57;FLJ36110;FLJ40342;FLJ58126 EF-hand calcium-binding domain-containing protein 13;EF-hand domain-containing protein C17orf57;OTTHUMP00000227428;OTTHUMP00000227430 APPROVED protein-coding ENSG00000178852 26864 08278 VALIDATED 1605111 EFCAB14 EF-hand calcium binding domain 14 1 1 1 p33 45428182 45472087 - 46913420 46957323 - 47140831 47184736 - 6480464 17672918;15489334;14702039;12477932;9455484;19322201;22095909;23455922 9813 F5H7K3;O75071 AA974135;AB007963;ABBA01050836;AK001487;AK295722;AL593856;AMYH01000588;BC002525;BC018842;CH471059;NM_014774 AAH02525;BAA32328;BAG50924;BAH12167;EAX06893;EAX06894;NP_055589;O75071 Hs.707688 1645313;1673773;1781844;1855499;2151001;5024543 D1S3690;SHGC-74782;SHGC-74789;SHGC-81672;WI-11938;WI-18600 KIAA0494;RP11-8J9.3 EF-hand calcium-binding domain-containing protein 14;EF-hand domain-containing protein KIAA0494;OTTHUMP00000009684;hypothetical protein LOC9813 APPROVED protein-coding ENSG00000159658 29051 17191 VALIDATED 6481153 EFCAB6-AS1 EFCAB6 antisense RNA 1 22 43912134 43932485 + 14702039 100874197 ABBA01014577;ABBA01014578;AK090843;AL118498;AL929420;AMYH01012830;NR_046563 Hs.627997 APPROVED miscrna ENSG00000223843 39999 PREDICTED 1603895 EFCAB3 EF-hand calcium binding domain 3 17 17 17 q23.2 54834669 54880912 + 57811646 57847569 + 60447579 60493840 + 6480464 15489334;14702039;12477932;20379614 146779 E5RHB1;E5RJB7;Q8N7B9 ABBA01035355;AC008026;AI218847;AK098684;AMYH01008543;BC101752;BC101778;CH471109;EG327376;NM_001144933;NM_173503 AAI01753;AAI01779;BAC05376;EAW94354;NP_001138405;NP_775774;Q8N7B9 Hs.152670 1669527;1685844;1695862;2145098 D11S4393;RH92967;SHGC-56689;SHGC-78807 FLJ25818;MGC126801;MGC126827 EF-hand calcium-binding domain-containing protein 3;OTTHUMP00000226899;OTTHUMP00000227002;OTTHUMP00000227004 protein-coding ENSG00000172421 26379 08077 VALIDATED 1604261 EFCAB2 EF-hand calcium binding domain 2 1 1 1 q44 218422357 218577396 + 243200315 243317761 + 245133171 245288530 + 6480464 16710414;16344560;15489334;14702039;12477932;20379614 84288 H0Y588;H0Y6F0;H0YHT5;H7BY53;Q5VUJ9 AB209286;ABBA01047175;ABBA01047176;ABBA01047177;ABBA01047178;ABBA01047179;ABBA01047180;ABBA01047181;AI038779;AI796049;AI911515;AK001393;AK090927;AK302883;AL356512;AL589763;AMYH01001897;AMYH01001898;AW195544;AW661993;BC005357;BG546306;BG701985;BI838837;BQ438351;DA156641;DB286332;NM_001143943;NM_032328;NR_026586;NR_026587;NR_026588 AAH05357;BAD92523;BAG64061;NP_001137415;NP_115704;Q5VUJ9 Hs.134857 1654434;1678123;1706914;1750569;1768716;1780114;1856643;2115180;2138977;2156353;2157122;5015619;5022576;5037552 178;AL009492;D11S3114;D1S1361;D1S266E;D8S2279;RH17889;RH70112;SHGC-111872;SHGC-154426;SHGC-34681;SHGC-76623;SHGC-76625;SHGC-80945 FLJ33608;MGC12458 EF-hand calcium-binding domain-containing protein 2;OTTHUMP00000038297;OTTHUMP00000038298;OTTHUMP00000038299;OTTHUMP00000038300;OTTHUMP00000222067;OTTHUMP00000227965;OTTHUMP00000241414 protein-coding ENSG00000203666 28166 14423 VALIDATED 2301262 EFCAB8 EF-hand calcium binding domain 8 20 20 20 q11.21 28200602 28303292 + 30908661 31013076 + 31446729 31549415 + 6480464 11780052;23028342 388795 A8MWE9;B7ZBN9;H0Y4P4 ABBA01019247;ABBA01019248;ABBA01019249;ABBA01019250;ABBA01019251;AL035071;AL139826;AL390298;AMYH01011852;CH471077;XM_003118799;XM_003119820;XM_003960789 A8MWE9;EAW76347;XP_003118847;XP_003119868;XP_003960838 1703606;1724257;1724295;2117564 D20S563E;RH120402;RH121271;SHGC-78691 EF-hand calcium binding domain 8;EF-hand calcium-binding domain-containing protein 8;EF-hand domain-containing protein ENSP00000383366 protein-coding 34532 MODEL 2301263 EFCAB9 EF-hand calcium binding domain 9 5 5 5 q35.1 167653587 167662872 + 171553782 171570743 + 171621176 171630458 + 15372022;11181995 285588 A8MZ26 ABBA01044052;AC024561;AI024830;AMYH01015811;CH471062;CN445899;NM_001171183 A8MZ26;EAW61438;NP_001164654 Hs.716824 1686734;1693810;2115577 RH93379;SHGC-58952;WI-22520 EF-hand calcium-binding domain-containing protein 9;EF-hand domain-containing protein;OTTHUMP00000223465 protein-coding ENSG00000214360 34530 PROVISIONAL 1606096 EFCAB5 EF-hand calcium binding domain 5 17 17 17 q11.2 25116847 25297005 + 25292812 25459596 + 28256874 28435470 + 6480464 16344560;12477932;10737800;21509594;22797925 374786 A4FU69;B4DZR5;C9J1E6;H0Y4M1;H0Y843;K7EJC3 ABBA01015005;ABBA01015006;AC104982;AC104984;AC104996;AK128126;AK299608;AK302745;AK303060;AL833911;AMYH01008298;BC110608;BC110609;BC119807;BC137519;BQ293162;BX648689;DB064946;DB076773;DB080627;NM_001145053;NM_198529;NR_026738 A4FU69;AAI10609;AAI10610;AAI19808;AAI37520;BAC87284;BAG61537;BAG63959;BAG64177;CAD38767;NP_001138525;NP_940931 Hs.662411 1331576;1713155;1783460;1846885;2126903;2143542 D17S1294;D17S1549;RH120365;RH70210;SHGC-111434;SHGC-2736 DKFZp434G2420;DKFZp686I0638;FLJ46247 EF-hand calcium-binding domain-containing protein 5;OTTHUMP00000163637;OTTHUMP00000163638;OTTHUMP00000198277 protein-coding ENSG00000176927 24801 13528 VALIDATED 1603869 EFCAB4A EF-hand calcium binding domain 4A 11 11 11 p15.5 894861 898627 + 817585 821991 + 827585 831991 + 6480464 14702039;12477932;16344560;15489334;17207965;20418871;21832049;23251661 283229 E9PHZ8;E9PK04;E9PPF3;E9PRE5;Q8N4Y2 ABBA01015212;AK075180;AK097334;AK127926;AK304093;AMYH01003295;AP006621;BC033196;BC073821;BG674461;BU621015;BX104079;CH471158;CQ783262;DA967563;DB161031;DN997084;GU952799;NM_173584 AAH33196;AAH73821;ADD96763;ADQ32106;BAC11455;BAC87194;BAG64999;CAF86467;EAX02397;EAX02398;EAX02399;NP_775855;Q8N4Y2 Hs.660936 1778699 RH47994 CRACR2B;FLJ46033;MGC45840;MGC88858 CRAC channel regulator 2B;EF-hand calcium-binding domain-containing protein 4A;OTTHUMP00000229161;OTTHUMP00000229163;calcium release-activated calcium channel regulator 2B protein-coding ENSG00000177685 28703 14645 614177 VALIDATED 1603191 EFCAB4B EF-hand calcium binding domain 4B 12 12 12 p13.32 5338122 5484209 - 3627370 3732524 - 3724494 3862366 - 6480464 16713569;16344560;16189514;15489334;14702039;12477932;19478329;20379614;20418871;20708005;23088713;18029348;21993531 84766 D7UEQ6;H0YFI5;H7BXT2;Q9BSW2 ABBA01048774;ABBA01048775;ABBA01048776;ABBA01048777;AC005831;AC006207;AK057608;AK091124;AK304017;AMYH01004192;BC004524;BC150643;BU632650;BU634271;CH471116;CR627161;DB214079;NM_001144958;NM_032680 AAH04524;AAI50644;ADZ15373;BAG64932;EAW88858;EAW88859;EAW88860;NP_001138430;NP_116069;Q9BSW2 Hs.504534 1693874;1693900;1725979;2155023;2156814;2179165;5016427;5022578;5022651;5024039 D11S2921;D16S325;D1S1423;G41240;G41241;G41242;G41257;G42627;G42640;G62283 CRACR2A;DKFZp686G13246;FLJ33046;FLJ33805;MGC4266 CRAC channel regulator 2A;EF-hand calcium-binding domain-containing protein 4B;OTTHUMP00000238206;OTTHUMP00000238231;calcium release-activated calcium channel regulator 2A protein-coding ENSG00000130038 28657 10079 614178 VALIDATED 1603602 EFCAB7 EF-hand calcium binding domain 7 1 1 1 p31.3 62278938 62328273 + 63761856 63810952 + 63989013 64038364 + 6480464 16381901;15489336;14702039;12477932;11347906;11076863 84455 A8K855 AB058702;ABBA01074568;ABBA01074569;AK092219;AK292220;AK315850;AL109925;AL833720;AMYH01000676;BC015814;BX004807;CH471059;NM_032437 A8K855;AAH15814;BAB47428;BAF84909;BAF98741;CAH56237;CAL37517;CAL37663;CAL37970;CAL38255;EAX06568;EAX06569;EAX06570;NP_115813 Hs.652324 5021590 A004Y11 DKFZp666D225;KIAA1799;RP4-534K7.1 EF-hand calcium-binding domain-containing protein 7;OTTHUMP00000010540 protein-coding ENSG00000203965 29379 17226 VALIDATED 1601856 EFCAB6 EF-hand calcium binding domain 6 This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 22 22 22 q13.2 27835968 28119513 - 42255987 42539451 - 43924624 44208217 - 15342556;19240061;15489334;14702039;12612053;12529303;12477932;11258795;10591208;8125298;23382691 64800 B0QYI5;B4DKR4;Q9NSF5 AA778573;AB051459;AB073862;ABBA01014578;ABBA01014579;ABBA01014580;ABBA01014581;ABBA01014582;ABBA01014583;AK027241;AK058069;AK225596;AK225605;AK292411;AK292498;AK296679;AK309013;AK311267;AL023801;AL031843;AL118498;AL355841;AMYH01012830;AW139921;BC039315;BP325901;CD106996;NG_030019;NM_022785;NM_198856;Y10776;Z82201;Z97055 AAH39315;BAB15703;BAB33342;BAB71780;BAF85100;BAF85187;BAG59276;CAA71749;CAB91065;NP_073622;NP_942153;Q5THR3 Hs.658996 1747529;1775874;2111424;2123913;2179665;2181276;7183778 AL022546;D22S1146;D22S427;D22S565;G09536;G65388;L17717 DJBP;FLJ23588;HSCBCIP1;KIAA1672;dJ185D5.1 CAP-binding protein complex interacting protein 1;CAP-binding protein complex-interacting protein 1;DJ-1-binding protein;EF-hand calcium-binding domain-containing protein 6;OTTHUMP00000197735;OTTHUMP00000214009 APPROVED protein-coding ENSG00000186976 24204 13391 REVIEWED 1349676 EFHB EF-hand domain family, member B 3 3 3 p24.3 19861484 19916233 - 19895968 19950710 - 19920964 19975706 - 737633;1580863;6480464 12477932 15489334;14702039;20379614 151651 H7C0U4;H9KV82;Q8N7U6 ABBA01025095;AC104182;AK057929;AK097644;AK122616;AMYH01013012;BC028198;CH471055;NM_144715 AAH28198;BAB71614;BAC85491;EAW64299;EAW64300;NP_653316;Q8N7U6 Hs.733920 2142551;5020948;5037552 D3S4109;D8S2279;G35510 FLJ25200 EF-hand domain-containing family member B;OTTHUMP00000197685;OTTHUMP00000197686;OTTHUMP00000207861;ef hand domain family, member b protein-coding ENSG00000163576 26330 08054 VALIDATED 1602687 EFCC1 EF-hand and coiled-coil domain containing 1 3 3 3 q21.3 127152648 127191825 + 130231982 130242273 + 128720472 128759585 + 6480464 16641997;15489334;14702039;12477932;21145461;22632162 79825 Q9HA90 ABBA01020918;ABBA01020919;ABBA01020920;ABBA01020921;AC108673;AC112484;AK022115;AK022119;AMYH01013468;AMYH01013469;BC093800;BC112195;BX649124;CH471052;NM_024768 AAH93800;AAI12196;BAB13964;EAW79286;NP_079044;Q9HA90 Hs.134807 1686338;1690788;5019192;5022651 D11S2921;RH104377;RH79951;RH99169 C3orf73;CCDC48;DKFZp686B0148;FLJ12053;FLJ12057;MGC138400 EF-hand and coiled-coil domain-containing protein 1;EF-hand domain-containing protein ENSP00000381169;OTTHUMP00000213822;coiled-coil domain containing 48;coiled-coil domain-containing protein 48 APPROVED protein-coding ENSG00000114654 25692 08569 VALIDATED 1349722 EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) 7240710 5116697 1941 3220 300088 1349728 EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] 11 11 q13.1 65390488 65396852 - 65633912 65640405 - 1580863;6480464 10601734;16189514;17255108;16685658;16554811;16493080;16303743;15489334;14702039;12975309;12477932;12107411;11231014;10982184;10380882;22440127;20588308;15342556;20389311;16713569;19570982;19627254;22919265;21163940;21078624;19953087;21563328;22070778;23088713;23313295;22943132;22829427 30008 E9PI47;E9PKA3;E9PNB8;E9PRQ8;E9PRU1;E9PSC1;H0YCB5;H0YCR9;H0YET5;H0YEU0;O95967;Q9H3D5 AB030655;AB209121;ABBA01024098;AF093119;AF109121;AF124486;AJ132819;AK000980;AK075453;AK095794;AK098186;AK292079;AK315181;AMYH01003727;AP001201;AY358899;BC010456;BC018871;BC109225;BP382163;BQ478413;BQ639195;CB050184;CH471076;CR541934;DB475347;NG_012304;NM_016938;NR_037718 AAC62108;AAF65188;AAG45245;AAH10456;AAQ89258;ABM82973;ABM86167;BAA92880;BAD92358;BAF84768;BAG37622;BAG50843;BAG52143;CAA10791;CAG46732;EAW74455;EAW74456;EAW74457;EAW74458;EAW74459;EAW74460;EAW74461;EAW74462;NP_058634;O95967 Hs.731454 2114485;2114524;2123360;2148752;2159266;5022262 D11S2297E;IB1075;RH36142;STS-H53813;STS-R09524;WI-18484 ARCL1B;FBLN4;MBP1;UPH1 EGF-containing fibulin-like extracellular matrix protein 2;FIBL-4;OTTHUMP00000233967;OTTHUMP00000233968;OTTHUMP00000234402;fibulin 4;fibulin-4;mutant p53 binding protein 1 APPROVED protein-coding ENSG00000172638 3219 05221 604633;614437 REVIEWED 1314277 EFNA2 ephrin-A2 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008] 19 19 p13.3 1237168 1250944 + 1286153 1301430 + 1580863;6480464;6484113 9826538;17878388;16540516;16158060;15057824;12421992;11884456;11860487;11256076;11128993;10958785;10730216;10531456;10207129;9751130;9576626;9530499;9465306;9267020;8755474;10207087;10366629;12659632;19525919;21415392;20805357;22247258 1943 O43921;Q9HCB5 ABBA01002638;AC004258;AC005330;AJ007292;AMYH01009241;AMYH01009242;CH471139;NM_001405;U92896 AAC04896;AAC39577;AAG16277;AAI46279;AAI48728;CAA07435;EAW69517;NP_001396;O43921 Hs.741510 ELF-1;EPLG6;HEK7-L;LERK-6;LERK6 HEK7 ligand;HEK7-ligand;LERK-6;eph-related receptor tyrosine kinase ligand 6;ephrin-A2;ligand of eph-related kinase 6 APPROVED protein-coding ENSG00000099617 3222 04132 602756 REVIEWED 1318351 EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] 2 2 p16 55946606 56004436 - 56093097 56151298 - 1598888;1580863;6480464;7240710 10369267 12620389;19266077;19208748;19115204;19012040;18391952;18391951;18188955;17671114;17666404;16713569;16189514;15489334;15218514;15123717;14702039;14578376;12477932;12427233;12242346;11389162;11384588;11262647;10982184;10601734;8889548;8812496;8573024;7799918;22275171;20546612;20801516;20846217;20966902;20981449;16344560;19862539;19913326;19275936;19396169;19451621;19804359;19850834;19887559;19893584;19898900;19948975;20005202;20189936;20378157;20379614;20397748;22665268;21571867;21744999;23509962;21163940;21796503;22031286;21078624;21955618;22159686;21901248;20881960;17170699;18985028;21963094;21988832;22519482;23365660;22190034;23036572 2202 B2R6M6;B4DW75;C9J4H7;C9J4J8;C9J8S9;C9JPZ9;C9JQX7;C9JUM4;Q12805;Q580Q6 AA704122;AB209212;ABBA01075279;AC010895;AC096549;AI472137;AK092854;AK290599;AK293058;AK301402;AK301531;AK312639;AL703474;AMYH01010367;AY004330;BC014410;BC098561;BU542044;BU683304;BX475672;CH471053;CS161052;DA264704;NG_009098;NM_001039348;NM_001039349;U03877 AAA65590;AAH14410;AAH98561;AAK11491;AAX81993;AAY14669;ABM83440;ABM86654;BAD92449;BAF83288;BAF85747;BAG35523;BAG52615;BAG62937;BAG63032;CAJ30876;EAX00080;EAX00081;EAX00082;NP_001034437;NP_001034438;Q12805 Hs.732348;Hs.76224 1645209;1667215;1680004;1686877;1752277;1769832;2134672 D2S2626;D2S2864;RH70532;RH93383;RH98599;SHGC-106202;SHGC-12903 DHRD;DRAD;FBLN3;FBNL;FIBL-3;FLJ35535;MGC111353;MLVT;MTLV;S1-5 EGF-containing fibulin-like extracellular matrix protein 1;FIBL-3;OTTHUMP00000159697;OTTHUMP00000201000;OTTHUMP00000201001;extracellular protein S1-5;fibrillin-like protein;fibulin 3;fibulin-3 APPROVED protein-coding ENSG00000115380 3218 03331 126600;601548 REVIEWED 1317534 EFHC1 EF-hand domain (C-terminal) containing 1 This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 6 6 p12.3 52392953 52468542 + 52284994 52360583 + 6480464;7240710 19147686;18823326;18593566;18505993;17972043;17634063;17159113;17054699;16839746;16824517;16378686;16344560;16189514;15489334;15258581;14702039;14582146;14574404;12477932;9305351;8737649;8125298;20201926;20379614;22226147;22690745;22926142;22727576 114327 B2CKC5;H7C4B1;Q5JVL4 ABBA01050555;AK001328;AK094609;AK225543;AK295064;AK297632;AL049611;AL122084;AL136125;AMYH01016351;AY608689;AY608690;BC012921;BC020210;BQ268404;BQ270560;CH471081;CS185610;DA906669;EU520261;NG_016760;NM_001172420;NM_018100;NR_033327 AAH20210;AAT67418;AAT67419;ABM83096;ABM86290;ACB20691;BAA91628;BAG60005;BAH11960;CAJ42791;EAX04370;EAX04371;EAX04372;NP_001165891;NP_060570;Q5JVL4 Hs.403171 1649474;1697470;1709410;2164914;5022578 D1S1423;NIB1406;RH102236;SHGC-81734;STS-AA037246 EJM;EJM1;FLJ10466;FLJ37290;JAE;dJ304B14.2 EF-hand domain-containing protein 1;OTTHUMP00000016605;myoclonin-1 APPROVED protein-coding ENSG00000096093 16406 10583 254770;607631;608815 REVIEWED 1348000 EFHC2 EF-hand domain (C-terminal) containing 2 This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011] X X X p11.3 48146906 48342688 - 43892072 44087867 - 44007128 44202923 - 1580863;6480464 19429002;17948898;17164267;16112844;15772651;15489334;14702039;12477932 80258 H0Y5A6;Q5JST6 ABBA01046385;ABBA01046386;ABBA01046387;ABBA01046388;ABBA01046389;ABBA01046390;ABBA01046391;ABBA01046392;ABBA01046393;ABBA01046394;ABBA01046395;ABBA01046396;ABBA01046397;ABBA01046398;ABBA01046399;ABBA01046400;ABBA01046401;ABBA01046402;ABBA01046403;ABBA01046404;ABBA01046405;AC018719;AK026254;AK026496;AK291187;AK292967;AK297714;AL133344;AL359744;AMYH01022239;AMYH01022240;BC031039;CH471141;CR749363;DC331145;NG_021391;NM_025184 AAH31039;ADZ15519;BAB15413;BAB15492;BAF83876;BAF85656;BAG60070;CAH18216;EAW59372;EAW59373;EAW59374;EAW59375;NP_079460;Q5JST6 Hs.521953 1662352;1694088;1770855;2109783;2145519;2166438;2182374;5017894;7185911 AF020178;AL035132;DXS7952;DXS8197;DXS8210;EFHC2;RH70847;RRM2_8603;U23913 DKFZp686G08235;FLJ22601;FLJ22843;dJ1158H2.1 EF-hand domain-containing family member C2;OTTHUMP00000023169;OTTHUMP00000023170 APPROVED protein-coding ENSG00000183690 26233 06540 300817 VALIDATED 1350827 EFHD1 EF-hand domain family, member D1 EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM, Mar 2008] 2 2 2 q37.1 227235077 227311815 + 233206568 233255730 + 233470767 233547491 + 1580863;6480464 17353931;15498874;15489334;14702039;8889548;12477932;12270117;20877624;21163940;21139048;22001757;22053931 80303 C9JTV4;H7C0I0;Q8WYH2;Q9BUP0 AB209715;ABBA01002008;ABBA01002009;ABBA01002010;ABBA01002011;ABBA01002012;ABBA01002013;ABBA01002014;ABBA01002015;AC064852;AC073254;AF176923;AF193044;AF218006;AK023674;AK293581;AK310565;AK315442;AMYH01011571;AW271276;BC002449;BC004128;BC035476;BC071886;BM677018;CH471063;CR627385;DB461847;DC328084;NM_001243252;NM_025202 AAG17248;AAG22472;AAH02449;AAH04128;AAQ13667;AAX93178;AAX93189;BAB14634;BAD92952;BAG37830;BAG57051;CAH10481;EAW71013;EAW71014;EAW71015;NP_001230181;NP_079478;Q9BUP0 Hs.516769;Hs.744624 1672117;1672119;1847507;2166698 A005V33;G20538;G31075;RH45995 DKFZp781H0842;FLJ13612;MST133;MSTP133;PP3051;SWS2 EF hand domain containing 1;EF hand domain family, member D1;EF-hand domain-containing protein 1;EF-hand domain-containing protein D1;OTTHUMP00000164362;OTTHUMP00000203630;OTTHUMP00000203631;OTTHUMP00000203632;swiprosin-2 APPROVED protein-coding ENSG00000115468 29556 13265 611617 VALIDATED 730990 EFNA1 ephrin-A1 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] 1 1 q21-q22 153366973 153374010 + 155100349 155107386 + 1304509;1299268;6480464;6484113 15561600;12615978 8070404;2233719;8660976;19074825;18794797;17980912;17332925;17049832;16710414;16428472;16239146;16169070;16051609;15649254;15585656;15489334;15340161;15193868;14707054;14692877;12794130;12496371;12496364;12477932;11519828;11278560;11256076;11128993;10730216;10515610;10502115;10341214;10207129;9693361;9576626;9530499;9267020;8755474;8542290;22228563;7973638;7838529;7619809;10366629;9195962;21166698;19101799;19525919;19573808;19642143;20154726;19950554;20571968;15777695;21138904;10655584;21349856;21415392;21500549;23298804;21900206;22236865;22001757;22040911;23251661;22824143 1942 P20827 ABBA01016716;ABBA01016717;AK057845;AK289589;AK313117;AL691442;AL833641;AMYH01001426;AW274944;BC032698;BC095432;CH471121;CR457416;GN087437;GN087439;M57730;NM_004428;NM_182685 AAA58388;AAH32698;AAH95432;ABM81648;ABM84826;BAF82278;BAG35938;CAG33697;CAX86883;CAX86884;EAW53131;EAW53132;EAW53133;EAW53134;EAW53135;NP_004419;NP_872626;P20827 Hs.516664 1795734;2179794 EFNA1_321;STS-W60696 B61;ECKLG;EFL1;EPLG1;LERK-1;LERK1;TNFAIP4 LERK-1;OTTHUMP00000033242;OTTHUMP00000033271;TNF alpha-induced protein 4;eph-related receptor tyrosine kinase ligand 1;ephrin-A1;immediate early response protein B61;ligand of eph-related kinase 1;tumor necrosis factor alpha-induced protein 4;tumor necrosis factor, alpha-induced protein 4 APPROVED protein-coding ENSG00000169242 3221 01858 191164 REVIEWED 1316863 EFHD2 EF-hand domain family, member D2 1 1 1 p36.21 14219263 14239714 + 15609028 15629422 + 15736391 15756839 + 1580863;6480464 20471030;19165527;17081983;16964243;16341674;15489334;15274114;12477932;11788997;17673920;19693767;21832049;22863883;21963094;23000965;23331044;23398456;21965664;19322201;21139048;21890473;20876399 79180 H0Y4Y4;Q96C19 ABBA01004712;AI624416;AL031283;AMYH01000269;BC003033;BC007233;BC013648;BC014923;BC023611;BC068473;BI753983;BM796344;CH471167;NM_024329 AAH07233;AAH14923;AAH23611;AAH68473;EAW51720;EAW51721;EAW51722;EAW51723;NP_077305;Q96C19 Hs.465374 1643658 RH15623 MGC4342;RP3-467K16.3;SWS1 EF hand domain containing 2;EF hand domain family, member D2;EF-hand domain-containing protein D2;OTTHUMP00000002319;OTTHUMP00000002320;swiprosin 1;swiprosin-1 protein-coding ENSG00000142634 28670 13266 VALIDATED 1317216 EFNA4 ephrin-A4 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008] 1 1 q21-q22 153302837 153308653 + 155036213 155042029 + 6480464 15489334;15340161;12477932;12209731;12107412;12030849;11256076;11128993;10730216;10607706;10515610;10366629;10207129;9576626;9530499;9267020;8755474;7838529;9195962;8660976;18819711;16710414;16540516;19828693;20071790;20643727;15777695;16341674;22708584 1945 P52798 ABBA01016720;AI459151;AI625552;AJ006352;AJ006353;AJ320547;AL691442;AMYH01001424;AMYH01001425;BC042610;BC107483;BE780161;BM740848;BM747625;BQ940212;CD671399;CH471121;CR533569;NG_029561;NM_005227;NM_182689;NM_182690;U14188 AAC50079;AAI07484;CAA06992;CAA06993;CAC48189;CAG38600;EAW53138;EAW53139;EAW53140;NP_005218;NP_872631;NP_872632;P52798 Hs.449913;Hs.639422 1781672;2185149;2191529;2217286 EFNA4_1473;MARC_26096-26097:1032793492:3;RH66543;SHGC-154992 EFL4;EPLG4;FLJ57652;LERK4;MGC125826 LERK-4;OTTHUMP00000033237;OTTHUMP00000033238;OTTHUMP00000219769;eph-related receptor tyrosine kinase ligand 4;ephrin-A4;ligand of eph-related kinase 4 APPROVED protein-coding ENSG00000243364 3224 03224 601380 REVIEWED 1352863 EFNA3 ephrin-A3 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008] 1 1 q21-q22 153317972 153326638 + 155051348 155060014 + 1580863;6480464;6484113 10207129;8660976;19204726;18417479;17980912;16710414;15901737;15489334;12907451;12496762;12477932;11256076;11128993;10730216;10516308;10366629;9530499;9267020;7973638;7838529;9195962;16169070;8755474;9576626;19823572;15777695 1944 B4DXG7;B7ZAD3;P52797 ABBA01016720;AK296030;AK316248;AL691442;AMYH01001425;BC017722;BC110406;BU633345;CH471121;L37360;NM_004952;U14187 AAA52368;AAC50078;AAH17722;AAI10407;ABM82594;ABM85780;BAG58798;BAH14619;EAW53136;EAW53137;NP_004943;P52797 Hs.516656 1795736;2146371 EFNA3_1673;RH70568 EFL2;EPLG3;Ehk1-L;LERK3 EFL-2;EHK1 ligand;LERK-3;OTTHUMP00000033243;OTTHUMP00000219768;eph-related receptor tyrosine kinase ligand 3;ephrin-A3;ligand of eph-related kinase 3 APPROVED protein-coding ENSG00000143590 3223 03225 601381 REVIEWED 1319867 EFNB2 ephrin-B2 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008] 13 13 q33 105940094 105985338 - 107142079 107187388 - 1580863;6480464;6484113 19272799;11780069;8559144;8660976;19356789;19108727;19036148;19035475;18957513;18836096;18713744;18580054;18570897;18488039;18445690;18300229;18231102;17611172;17380111;17204606;17196593;17167981;17123494;16867992;16430858;16357318;16343615;16007075;15998730;15996027;15951569;15764601;15745950;15718372;15489334;15471957;15458844;15193868;15126321;15083195;15057823;15047175;14499344;12761826;12734395;12477932;12206665;12136247;12051776;11983165;11920461;11128993;10730216;10648835;10473577;10207129;10066262;9920925;9883737;9718367;9630219;9576626;9533549;9530499;9267020;8878483;7833926;7534404;9195962;11152476;8755474;11256076;17207965;16511561;19664212;19728339;19875447;20233847;20483485;20491587;21632558;21047731;22024229;22020958;21880727;21906983;21575518;22446484;22292016;17336907;21963094;23201622 1948 P52799;Q2PDH7 ABBA01027048;ABBA01027049;AJ563723;AL138689;AMYH01005356;BC069342;BC074856;BC074857;BC105955;BC105956;BC105957;BG741114;BQ029549;BQ433342;BQ708550;BU622947;CB998384;CH471085;DR004737;L38734;NM_004093;U16797;U81262 AAA99707;AAC41752;AAD03786;AAH69342;AAH74856;AAH74857;AAI05956;AAI05957;AAI05958;ADQ32941;CAD91556;EAX09085;NP_004084;P52799 Hs.149239 1649378;1701602;1719159;1738447;1795742;2132602;2132604;2140794;5094993 A004R47;A005Y24;D13S501E;EFNB2;EFNB2_1594;G20597;RH104438;RH123297;RH15749 EPLG5;HTKL;Htk-L;LERK5;MGC126226;MGC126227;MGC126228 HTK ligand;LERK-5;OTTHUMP00000018686;eph-related receptor tyrosine kinase ligand 5;ephrin-B2;ligand of eph-related kinase 5 APPROVED protein-coding ENSG00000125266 3227 02754 600527 REVIEWED 1352796 EFTUD1 elongation factor Tu GTP binding domain containing 1 15 15 15 q25.2 59361739 59494111 - 80209616 80342159 - 82422561 82555104 - 737633;1580863;6480464;6907045 12477932 16344560;14702039;11329013;20966410;20531441;22863883;21139048 79631 H0YK75;H0YKI9;H0YKY7;H0YNW8;Q7Z2Z2 ABBA01060647;AC026624;AC026956;AK023181;AK056656;AK300348;AMYH01006854;BC014628;BC041565;BG204990;BX538332;CH471136;DA260259;NM_001040610;NM_024580 AAI52911;AAI56744;BAB14450;BAG51777;BAH13266;CAD98101;EAW99087;EAW99088;EAW99089;NP_001035700;NP_078856;Q7Z2Z2 Hs.459114 1673459;1712316;1756997;1847532;1852964;2185024 1990;A007G38;G54067;RH45867;SGC30254;SHGC-144354 FAM42A;FLJ13119;HsT19294;RIA1 elongation factor Tu GTP-binding domain-containing protein 1;elongation factor-like 1;ribosome assembly 1 homolog protein-coding ENSG00000140598 25789 07812 VALIDATED 737327 EFNB1 ephrin-B1 The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008] X X q12 67965556 67978728 + 68048840 68062007 + 1599802;1580863;1304509;727396;6480464;6484113;7240710 15124102;15561600;12139920 7973638;8755474;8798744;9883737;8660976;18627045;18314490;18043713;17942634;17906625;17591954;17567680;17204606;16526919;15959873;15772651;15725075;15489334;15351694;15340161;15166289;14988728;14642617;14576067;12919674;12477932;12475948;12209731;12136247;12084815;11557983;11466320;11301003;11256076;11128993;10730216;10669731;10207129;10197531;9920925;9576626;9530499;9302274;9267020;8889548;8878483;8070404;22279592;7774950;12384430;12223469;9195962;19672298;20308325;20734337;20565770;16712791;20643727;21542058;21139048;21906983;21963094;21988832;22718351;23475958 1947 P98172 ABBA01067395;AL136092;AMYH01022520;BC016649;BC052979;BM972960;BU172498;CB132233;CH471132;L37361;NG_008887;NM_004429;U09303;U09304 AAA52369;AAA53093;AAB41127;AAH16649;AAH52979;ABM82743;ABM85931;EAX05370;EAX05371;NP_004420;P98172 Hs.144700 1701878;1729281;1790213;1795740;1858261;2150662;5017899 AA964352;DXS159;EFNB1;EFNB1_609;EPLG2;G64129;RH17985 CFND;CFNS;EFL3;EPLG2;Elk-L;LERK2;MGC8782 EFL-3;ELK ligand;LERK-2;OTTHUMP00000023456;eph-related receptor tyrosine kinase ligand 2;ephrin b1;ephrin-B1;ligand of eph-related kinase 2 APPROVED protein-coding ENSG00000090776 3226 02072 300035;304110 REVIEWED 6769435 EFTUD1P2 elongation factor Tu GTP binding domain containing 1 pseudogene 2 4 66008421 66011069 - 100422019 ABBA01022874;AC096754;AMYH01014239;NG_025113 pseudo 44202 INFERRED 1350398 EFNA5 ephrin-A5 Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 5 5 q21 106744250 107034495 - 106712590 107006596 - 1580863;6480464;6484113 12477932;9245480;17474147;19270726;18628988;18563700;18385452;17400922;15901737;15489334;15107857;11416136;11256076;11128993;10730216;10601038;10531456;10366629;10207129;9751130;9576626;9530499;9267020;9195962;8755474;8661153;7748564;20659327;19668339;19695673;20029409;20379614;15777695;20889312;17631495;11870224;22072270;22623531;22074469;23419831;22860012 1946 D6RDV5;P52803 ABBA01069109;ABBA01069110;AC008796;AC008800;AC008952;AC010227;AC011349;AC024587;AK025909;AK308672;AMYH01015533;AMYH01015534;AMYH01015535;BC075054;BC075055;CH471086;NM_001962;U26403 AAB60377;AAH75054;AAH75055;EAW49063;EAW49064;EAW49065;NP_001953;P52803 Hs.288741 1335249;1670752;1671390;1689294;1696618;1735574;1743371;1752481;1755351;1755775;1761543;1771484;1787776;1795738;1855939;2117299;2130594;2131603;2141985;2154556;2164325;2187304;5022739 A004F05;A006T32;D5S1443;D5S1688E;D5S1890;D5S475;EFNA5;EFNA5_1540;GDB:315565;RH12376;RH16297;RH36350;RH78310;SGC34450;SHGC-106401;SHGC-142233;SHGC-142620;SHGC-145540;SHGC-173148;SHGC-82929;STS-D29229;WI-15986;WI-18120 AF1;EFL5;EPLG7;GLC1M;LERK7;RAGS AL-1;LERK-7;OTTHUMP00000158935;OTTHUMP00000222715;eph-related receptor tyrosine kinase ligand 7;ephrin-A5 APPROVED protein-coding ENSG00000184349 3225 03324 601535 REVIEWED 1349860 EFTUD1P1 elongation factor Tu GTP binding domain containing 1 pseudogene 1 15 q25.2 84748939 84795353 + 16344560 388159;648809 ABBA01029454;ABBA01029455;AC027807;AC103965;AMYH01006866;AMYH01006867;AMYH01006868;DB064528;DY655563;NR_036652;XM_370893 Hs.585157 1758353 SHGC-148139 FAM42B;HsT19321 APPROVED pseudo 31739 VALIDATED 1346330 EFNB3 ephrin-B3 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 17 17 p13.1 7549245 7555418 + 7608520 7614693 + 1580863;6480464;6484113 18676680;8808709;9126477;18632560;18057206;16951161;16477309;15489334;15340161;15047175;14702039;12477932;12383247;11920461;11256076;11128993;10730216;10207129;10197531;9576626;9530499;9484836;9267020;19170196;19692168;20029409;20925654;21413766;21447033 1949 Q15768 ABBA01054882;AC087388;AI346983;AK027329;AK314841;AMYH01008085;BC022499;BC042944;BQ892951;CH471108;NM_001406;U57001;U62775;U66406 AAB05170;AAC50707;AAC51203;AAH22499;AAH42944;BAG37359;EAW90133;EAW90134;EAW90135;NP_001397;Q15768 Hs.26988 1682431;1739941;2133122;2217288;5491403 D17S1774;EFNB3_3177;Efnb3;RH67972;RH75909 EFL6;EPLG8;LERK8 EPH-related receptor transmembrane ligand ELK-L3;Ephrin B3;OTTHUMP00000135301;eph-related receptor tyrosine kinase ligand 8;ephrin-B3 APPROVED protein-coding ENSG00000108947 3228 03804 602297 REVIEWED 1604382 EFR3A EFR3 homolog A (S. cerevisiae) This gene encodes a membrane protein. Studies with orthologous gene in mouse show that it is differentially expressed in the auditory brainstem neurons of mice with hearing deficit, compared to mice with normal hearing ability, suggesting a role for this gene in hearing. [provided by RefSeq, Jan 2011] 8 8 8 q24.22 129092075 129201496 + 132985541 133094956 + 132916356 133025889 + 6480464 15489334;15363888;12477932;8590280;21139048;21890473;21906983;19322201 23167 E5RFJ2;E5RJS1;H9KV44;Q14156 ABBA01014213;ABBA01014214;AC092817;AK294485;AK302799;AK307433;AMYH01019034;AMYH01019035;BC037910;BC047323;BC071611;BC108667;BC131486;BC152442;BU632041;BX648595;CA775398;CH471060;CR749243;CX165980;D63477;DB451954;NG_028112;NM_015137 AAH47323;AAH71611;AAI08668;AAI31487;AAI52443;AAI60042;BAA09764;BAG57708;BAG64001;CAH18099;CAH56143;EAW92138;NP_055952;Q14156 Hs.204564 1650602;1684944;1735734;1847097;1857988;2164286;2164457;2179535 D8S1352E;D8S2121;RH16036;RH25366;RH69785;SGC31235;SHGC-36664;STS-R54000 DKFZp781J0562;KIAA0143 OTTHUMP00000197820;OTTHUMP00000227380;protein EFR3 homolog A;protein EFR3-like APPROVED protein-coding ENSG00000132294 28970 17179 611798 REVIEWED 1352088 EGFL10 EGF-like-domain, multiple 10 6 q12 65567200 65828443 - 727966 AL109922;AL137007;AL450324;AL450394;XM_001126128;XM_001717769 CAC10575;CAI13283;CAI20452;CAI20453;Q5T1H1;XP_001126128;XP_001717821 bA307F22.3 protein-coding 21554 1319047 EFS embryonal Fyn-associated substrate The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013] 14 14 14 q11.2-q12 3688322 3697553 - 22895451 22904682 - 23825611 23834842 - 1580863;6480464 11984006;9349509;16189514;15489334;12477932;9750131;9748319;16169070;12471123;17474147;20237496;23314748;21832049;21871071;8647432 10278 B4DJ56;O43281 AA470981;AB001466;AB001467;ABBA01061320;AI808817;AK295933;AK314221;AL049829;AMYH01005604;BC034246;BC046403;BE645250;CH471078;NM_001277174;NM_005864;NM_032459 AAH34246;BAA24588;BAA24589;BAG36894;BAG58718;EAW66163;EAW66164;NP_001264103;NP_005855;NP_115835;O43281 Hs.24587 1659233;1672667;1712308;1730255;1730263;2108049;2157660;2157662;2157664;7184710;7187944 2018;2174;BCD2011;D14S93E;D14S94E;EFS_9081;G54063;RH68657;WI-21759 CAS3;CASS3;EFS1;EFS2;HEFS;SIN Cas scaffolding protein family member 3;OTTHUMP00000164593;OTTHUMP00000164594;embryonal Fyn-associated substrate;signal transduction protein (SH3 containing) APPROVED protein-coding ENSG00000100842 16898 09932 609906 REVIEWED 1602224 EFR3B EFR3 homolog B (S. cerevisiae) 2 2 2 p23.3 25105314 25222296 + 25112200 25231747 + 25264973 25382004 + 6480464 16344560;14702039;12477932;10231032;9110174;8619474;19913121;20628086;18391951;21890473;21980299 22979 B3KT90;E7ESK9;H7BXG9;Q9Y2G0 AB023170;ABBA01045130;ABBA01045131;ABBA01045132;ABBA01045133;ABBA01045134;ABBA01045135;ABBA01045136;ABBA01045137;AC012457;AC013267;AF131834;AK095190;AMYH01010179;AMYH01010180;BC049384;DA241650;NM_014971 AAH49384;AAY24353;BAA76797;BAG53002;NP_055786;Q9Y2G0 Hs.4892 2140818;2166481;2184574;5015861;5017433;7185938 A008S21;D10S16;D2S1292;D2S2499;STS-T76997 KIAA0953 OTTHUMP00000200942;OTTHUMP00000200943;OTTHUMP00000200944;OTTHUMP00000200945;OTTHUMP00000200946;protein EFR3 homolog B protein-coding 29155 VALIDATED 1603594 EGFEM1P EGF-like and EMI domain containing 1, pseudogene 3 3 3 q26.2 166365778 166946908 + 170012777 170030470 + 167967310 168548387 + 6480464 12477932;20210993;11181995;8889548 93556 Q0D2K5 ABBA01058718;ABBA01058719;ABBA01058720;ABBA01058721;ABBA01058722;AC018356;AC058333;AC061710;AC092954;AC112911;AC124893;AF086185;AMYH01013637;AMYH01013638;AMYH01013639;AMYH01013640;BC011266;BC103698;BC104748;BC105689;BC105690;BI461452;BM716713;CH471052;DN831821;DR000794;DT932647;DT932648;NR_021485 EAW78561;EAW78562;Q0D2K5 Hs.478158 1337323;1339558;1668267;1669880;1679577;1699002;1714477;1750917;1768426;1787944;1853082;1855835;2115321;2145749;5022578;7186045 A008K30;Cda19g12;D1S1423;D3S1243;D3S1520;D3S1614;D3S3358;D3S3809;RH103072;RH119749;RH80674;SHGC-104693;SHGC-173736;SHGC-77508;WI-5163 C3orf50;NCRNA00259 APPROVED pseudo 25149 VALIDATED 6481203 EGFLAM-AS1 EGFLAM antisense RNA 1 100874117 AC091839 APPROVED miscrna 41169 1354247 EGFL6 EGF-like-domain, multiple 6 This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008] X X X p22 17704800 17768780 + 13497662 13561615 + 13587694 13651694 + 1580863;6480464 10610727;18038328;16303743;12975309;12477932;10777661;16169070;16344560;20574786;21900206;23285163;23412934 25975 Q8IUX8 ABBA01071118;ABBA01071119;ABBA01071120;ABBA01071121;ABBA01071122;ABBA01071123;ABBA01071124;ABBA01071125;AC079383;AF186084;AF193055;AJ245671;AK075214;AK300137;AK300236;AK315018;AL117610;AMYH01022095;AMYH01022096;AY358333;BC038587;CH471074;CS430826;DA534733;DC380958;NG_015963;NM_001167890;NM_015507 AAF27812;AAG22483;AAH38587;AAQ88699;ABM81864;BAC11477;BAG37508;BAG61924;BAG62004;CAB56014;CAB92132;CAL60149;EAW98821;EAW98822;NP_001161362;NP_056322;Q8IUX8 Hs.12844 1670158;1701694;1701698;1702738;1748963;2109275;2114586;2154964 DXS1526;DXS7936;DXS7938;EGFL6_9442;L77195;L77196;SHGC-110611;STS-W80818 DKFZp564P2063;MAEG;W80 EGF repeat-containing protein 6;EGF-like protein 6;MAM and EGF domain containing;MAM and EGF domains-containing gene protein;OTTHUMP00000022934;OTTHUMP00000022935;epidermal growth factor-like protein 6 APPROVED protein-coding ENSG00000198759 3235 02212 300239 REVIEWED 6481209 EGFLAM-AS3 EGFLAM antisense RNA 3 100874116 AC091839 tbp1 APPROVED miscrna 41167 5132796 EGFLAM-AS2 EGFLAM antisense RNA 2 5 5 p13.2 38287133 38290153 - 38400553 38403573 - 14702039;16344560 100506475 ABBA01024198;AC091839;AI359548;AK093278;AMYH01015040;BX093664;DB029288;NR_102749;NR_102750;XR_108572;XR_112727;XR_171496 Hs.662304;Hs.733718 1696578 SHGC-78771 FLJ35959 APPROVED miscrna 41168 VALIDATED 736832 EGF epidermal growth factor This gene encodes a member of the epidermal growth factor superfamily. The encoded protein is synthesized as a large precursor molecule that is proteolytically cleaved to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding the high affinity cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 4 4 q25 111053499 111152868 + 110834040 110934118 + 1580863;1626483;2317641;2317627;2317644;2317638;2317668;2317646;2317650;2317963;5490965;6480464;6484113;6906909;6906904;5688301;6907045;6906916;6906911;6906912;6906918;6906908;7240710 2260661;18571008;19390485;18505086;20127414;10811321;8093356;1347773;15982853;19506583;19357719;21701422;21354048;16417467;17671655;17475821;15885173;20482449 8796265;3486749;22122913;19010984;18990689;18844210;18831963;18813355;18773861;18757521;18722874;18676680;18632979;18543351;18519765;18511414;18490463;18487214;18485152;18483390;18467441;18463167;18441095;18434322;18398039;18382118;18365874;18349392;18325497;18292095;18276761;18271972;18212060;18167406;18156174;18096367;18094008;18088275;18080773;18036246;18006148;17991733;17991726;17986122;17968796;17962208;17950068;17943082;17940864;17912028;17898861;17851837;17762162;17673689;17661145;17634901;17626784;17617058;17612563;17578349;17573555;17567965;17562024;17545148;17479438;17473192;17453000;17433039;17397984;17392355;17334773;17316357;17311928;17227756;17223314;17204151;17175377;17123472;16979250;16969495;16946702;16939220;16885506;16872636;16847055;16837648;16820871;16788380;12637502;12540376;12531699;12508124;12477932;12425525;12397374;12388817;12368284;12202942;12192610;12163506;12163055;12141529;12138086;12093292;12009575;11994282;11971908;11950840;11925427;11914075;11903419;11896055;11844511;11796824;11751923;11438527;10973965;10788520;10748174;10579352;10436156;10199559;9925763;9661876;9188692;16762922;16728406;16691190;16636672;16584205;16436184;16428382;16413767;16407418;16344560;16332692;16316319;16282324;16274250;16248985;16214932;16210470;16134968;16115648;16033767;16019439;15982634;15950078;15913871;15901830;15886816;15860930;15802268;15798095;15748906;15735691;15729146;15675968;15663953;15659382;15622242;15613483;15536154;15509542;15491342;15489334;15488707;15485674;15485655;15481560;15373802;15373782;15373781;15329330;15272014;15260478;15256384;15194442;15192046;15183666;15180992;15175028;15129177;15087376;15081423;15063762;15003992;14676838;14662770;14651960;14614718;14523024;14520709;14507446;12960147;12954631;12879019;12795334;12788694;12768436;12722480;12672817;12667326;12643788;9712850;15611079;12620237;9482941;10559227;1501243;6603475;8639530;8845374;9356464;9544989;10567358;10648629;10734310;10913131;11823423;11894095;12218189;12593796;14560030;14665621;15475003;15574420;15962011;16407834;3491360;19634110;19624835;19549816;19520791;19492417;19491269;19488063;19470771;19453261;19388850;19336395;19319135;19236842;19203995;19179548;19172394;19167371;19144868;19141999;19127217;19124506;19110611;19087984;19086053;19081071;19074885;19073827;19064572;19032382;19020743;19014905;19011936;8419140;8123596;8077234;7736574;7730382;7640657;7615511;7558411;7540053;6382023;6290982;21567271;22493503;23201894;2790960;2789514;1639032;1522591;1334406;1281549;300079;10085134;9687510;15252009;15950906;15837620;8413296;21274378;20362419;19996314;20375273;20430735;20412119;20472833;20587610;20606012;20628086;19913121;20628624;20631636;20634891;20644561;20674545;21186997;20800603;20854793;11786904;12297050;15620700;16274239;17852426;18583979;19170196;19380191;19403524;19415484;19484147;19544388;19549686;19592671;19604397;19608641;19619867;19625176;19670348;19692168;19708171;19749156;19817957;19823871;19834535;19840254;19840943;19853299;19880507;19887603;19895983;19896111;19900104;19920151;19921131;19951549;19953086;20033794;20036812;20092031;20101173;20108217;20157331;20164030;20197289;20201065;20201926;20203692;20207214;20303009;20332099;20351270;20379614;20418097;20424473;20453000;20487573;20564212;21123997;20423485;20514023;20598233;20126978;20429940;20690902;20889718;20714325;20727996;20444693;20727496;20851879;21029725;20621058;20498653;21187523;20398806;20832399;20158379;20466569;20818748;20364107;20830310;21062739;21439278;21087604;21309478;20819124;21099256;21224998;21209099;21212517;21048224;22914212;22990108;22413835;22574813;22621366;22852842;20969541;21376205;21273531;20963824;20169434;22457050;21982438;21868386;21247755;21678081;21971700;22022452;16314496;19460345;19531499;22033246;21533003;21752154;22433566;22479638;22797360;23090954;23403233;23466131;21872446;21236296;22087246;22129558;22293333;22404757;21436680;22236006;21358296;22279551;22401280;22403631;22416276;22505024;17324121;22070650;22308022;22727668;19727227;22106858;22677173;23007402;22481252;22782629;23542467;22951723;22578596;23645212;23382691;18271526;22503865;22721997;22829952;22829589;22479527;22504456;22532606;22701712;22745586;22925500;22668508;22773267;22534548 1950 P01133 ABBA01063785;ABBA01063786;AC004050;AC005509;AF023155;AI628974;AK299306;AK307734;AMYH01014458;AY548762;BC093731;BC113461;BC143357;CA437074;CH471057;CU446298;DB227969;DB349864;JQ346088;NG_011441;NM_001178130;NM_001178131;NM_001963;X04571 AAA72173;AAH93731;AAI13462;AAS83395;AFA26280;BAG61319;CAA28240;EAX06257;NP_001171601;NP_001171602;NP_001954;P01133 Hs.419815 1338978;1668950;1795744;2123441;2132746 D4S2350;D4S2623;D4S3145;EGF_435;SHGC4-992 HOMG4;URG OTTHUMP00000162922;OTTHUMP00000219721;OTTHUMP00000219722;beta-urogastrone;epidermal growth factor;pro-epidermal growth factor APPROVED protein-coding ENSG00000138798 3229 00578 131530;611718 REVIEWED 1347289 EGFL8 EGF-like-domain, multiple 8 6 6 6 p21.32 33699452 33703109 + 32240383 32244040 + 32132382 32136062 + 6480464 19143814;15489334;15340161;14656967;14574404;12975309;12477932;20587610;19851445;17207965;21737648;21965749;22359512;21988832;23362303 80864 Q5JP22;Q99944 AB190520;ABBA01038107;ABBA01038108;AK126457;AK309657;AL662828;AL662884;AL845464;AMYH01016234;AY358139;BC035574;BC052591;BX284686;BX927239;CH471081;CR812478;CR933878;NM_030652;NR_037860;U89336 AAB47494;AAH35574;AAH52591;AAQ88506;ADQ32862;BAD51398;EAX03598;NP_085155;Q99944 Hs.731888 1672589;1675331;1745967;2124218;2136027;5015619;5015961;5037552 D11S3114;D15S1477;D6S1154E;D6S1412;D8S2279;RH124332;RH91426;WI-11350 C6orf8;FLJ44493;FLJ52513;FLJ75166;FLJ78536;FLJ97375;MGC44938;MGC59719;NG3 EGF-like protein 8;OTTHUMP00000029330;OTTHUMP00000029331;OTTHUMP00000174884;VE-statin-2;epidermal growth factor-like protein 8;vascular endothelial statin-2 protein-coding ENSG00000241404;ENSG00000258388 13944 16854 609897 VALIDATED 1342940 EGI epilepsy, generalized, idiopathic 7240710 1922810 1957 1339566 D8S256 3237 600669 7158345 EGFR-AS1 EGFR antisense RNA 1 7 55247443 55256642 - 8889549 100507500 AA004947;AACC02000089;ABBA01011849;AC006977;AC073324;AK123474;AMYH01017268;CH236957;NG_007726;NR_047551 Hs.720489 1669533;1678633;1693670;1851099 RH94246;SHGC-32574;SHGC-57944;SHGC-58597 miscrna ENSG00000224057 40207 VALIDATED 1602888 EGFL7 EGF-like-domain, multiple 7 This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 9 9 q34.3 138677198 138686951 + 139553308 139567130 + 6480464 22013081;19116145;18521848;18193184;17934064;16713569;15489334;15164053;15085134;14702039;14592969;12975309;12477932;20837907;20213100;19824075;20034472;19913121;20628086;17207965;20953557;21890473;22037871;22160377;21988832;23386126;20423846;22018271 51162 Q9UHF1;R4GMT3 AB125649;ABBA01022715;ABBA01022716;AF186111;AK091964;AL512735;AL590226;AMYH01021868;AMYH01021869;AY358902;AY358903;BC012377;BC088371;BI770335;BM919940;BX361374;BX647866;CB047042;CH471090;KC485578;NM_016215;NM_201446;NR_045110;NR_045111;NR_046367 AAF01429;AAH12377;AAH88371;AAQ89261;AAQ89262;ADQ31907;AGJ83826;BAD01469;BAG52452;CAC21666;EAW88244;EAW88245;EAW88246;EAW88247;EAW88248;NP_057299;NP_958854;Q9UHF1 Hs.91481 MGC111117;NEU1;RP11-251M1.2;VE-STATIN;ZNEU1 EGF-like protein 7;NEU1 protein;NOTCH4-like protein;OTTHUMP00000022597;OTTHUMP00000022598;OTTHUMP00000022599;epidermal growth factor-like protein 7;multiple EGF-like domains protein 7;multiple epidermal growth factor-like domains protein 7;vascular endothelial statin APPROVED protein-coding ENSG00000172889 20594 16351 608582 REVIEWED 1602070 EGFLAM EGF-like, fibronectin type III and laminin G domains 5 5 5 p13.2-p13.1 38144780 38352160 + 38294290 38501338 + 38258511 38465582 + 6480464 18641643;14702039;21145461;22760553;12477932;19727342;20078962;21129441;21890473;21963094 133584 D6RG24;D6RJD2;Q8NAL2 ABBA01024197;ABBA01024198;ABBA01024199;ABBA01024200;AC010338;AC010351;AC010457;AC091839;AK092479;AK092994;AK096474;AK097549;AK291602;AL832269;AL833357;AMYH01015040;BC031251;BC033177;BC033188;BC063822;BM928177;BX647551;CH471119;DN995271;NM_001205301;NM_152403;NM_182798;NM_182801 AAH31251;AAH33177;AAH33188;AAH63822;BAC03900;BAC04013;BAC04800;BAC05096;BAF84291;CAH56137;EAW55966;EAW55967;EAW55968;EAW55969;EAW55970;NP_001192230;NP_689616;NP_877950;NP_877953;Q63HQ2 Hs.20103 1683589;1696578;1708434;1710268;1762841;1785674;1785676;2136562;5095032 AFMa274wc9;EGFLAM;RH94281;SHGC-146613;SHGC-70164;SHGC-70165;SHGC-78771;SHGC-83917;SHGC-85228 AGRINL;AGRNL;FLJ39155 EGF-like, fibronectin type-III and laminin G-like domain-containing protein;OTTHUMP00000161787;OTTHUMP00000161788;OTTHUMP00000161789;OTTHUMP00000221298;OTTHUMP00000221299;OTTHUMP00000221300;OTTHUMP00000221301;OTTHUMP00000221302;agrin-like protein;pikachurin protein-coding ENSG00000164318 26810 13433 VALIDATED 5683645 EGFLAM-AS4 EGFLAM antisense RNA 4 5 p13.2 38282371 38291088 - 12477932 100852408 ABBA01024197;AC010351;AMYH01015040;BC014585;NR_046219 Hs.570954 APPROVED miscrna ENSG00000248730 41166 VALIDATED 2312701 EGOT eosinophil granule ontogeny transcript (non-protein coding) 3 3 3 p26.1 4728876 4731274 - 4790876 4793274 - 4790876 4793274 - 17351112;22303364 100126791 ABBA01020466;AC018816;AMYH01012948;BC039547;NG_016144;NR_004428 Hs.663059 1701556 RH104411 EGO;NCRNA00190 miscrna ENSG00000235947 37129 611662 VALIDATED 1606577 EFTUD2 elongation factor Tu GTP binding domain containing 2 This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 17 17 q21.31 40283805 40332289 - 42927655 42976993 - 6480464;6907045 7584026;9233818;9774689;17314511;17353931;12226669;17081983;16247014;15635413;15489334;15302935;14559993;12477932;12456665;12403470;11991638;10788320;8125298;7584028;16169070;15146077;11971955;21145461;18029348;15257298;17577209;17643375;19615732;20085707;20379614;16055720;16159877;19875381;23084401;12840015;16196087;21252943;21182205;22863883;22939629;22305528;22471593;19471022;21907836;15848144;18781797;19596686;20360068;21081666;21139048;21890473;21900206;21906983;22079093;22178446;17620599;17332742;19738201;21963094;21988832;22365833;22623428;23000965;23188108;23398456;23455922;15998806;16723661;22952844;23239648 9343 B3KX19;B4DMC0;K7EIT3;K7EIV5;K7EJ74;K7EJ81;K7EP67;K7EQ26;K7ERJ5;Q15029 ABBA01028341;ABBA01028342;ABBA01028343;ABBA01028344;ABBA01028345;AC015936;AJ505017;AK126193;AK126464;AK126652;AK128148;AK225335;AK293108;AK296367;AK297392;AK302828;AK316098;AMYH01008431;BC002360;BX647305;CH471178;CR456774;D21163;DC353274;NG_032674;NM_001142605;NM_001258353;NM_001258354;NM_004247 AAH02360;ABM85527;ABW03758;BAA04699;BAF85797;BAG54294;BAG54331;BAG59042;BAG59832;BAG64023;BAH14469;CAD43720;CAG33055;EAW51573;EAW51574;NP_001136077;NP_001245282;NP_001245283;NP_004238;Q15029 Hs.151787 1668736;1857701;2121914;2183392;2185627;2191493 A007K28;D17S2017;MARC_23993-23994:1029524382:1;RH17387;RH25269;T03450 DKFZp686E24196;FLJ44695;KIAA0031;MFDGA;MFDM;SNRNP116;Snrp116;Snu114;U5-116KD 116 kDa U5 small nuclear ribonucleoprotein component;SNU114 homolog;U5 snRNP specific protein, 116 kD;U5 snRNP-specific protein, 116 kD;U5 snRNP-specific protein, 116 kDa;U5-116 kDa;elongation factor Tu GTP-binding domain-containing protein 2;hSNU114 APPROVED protein-coding ENSG00000108883 30858 04869 603892;610536 REVIEWED 735297 EGLN1 egl nine homolog 1 (C. elegans) The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009] 1 1 q42.1 229568054 229627413 - 231499497 231560790 - 1580863;1334466;6480464;6483503;6483358;6484113;6907045;7240710 14597660;20396958;19364912 16956324;15721254;8606489;19631610;19477431;19339211;19304911;18834144;18776187;18505927;18347341;17933562;17932321;17579185;17353276;17060326;16880998;16815840;16782814;16710414;16489060;16407130;16161047;16157596;16155211;15897452;15563275;15247232;15156561;12912907;12670503;12615973;12477932;12351678;12163023;11598268;11595184;11595178;11574160;11056053;9828130;18285459;18072750;21601578;22747465;20404338;20574527;20801873;20727020;22595196;15474027;16511565;17848618;19159641;19546213;19563769;19724277;19737309;19915370;20028863;20156434;19639506;20466884;19624289;20956315;20959442;20961960;21030426;20978146;20856199;18264140;21251613;23130672;21620138;22975349;23275444;16958618;20724477;22308030;22006925;21988832;23487784;21335603;21748337;21887331;21792862;22343896;21139048;21890473;22286099;22068265;21828119;21933857;22236543;19208626;19604478;21877141;22395314;15084514;15210114;22802519;22833384;23077544;22946054;23225569;23413029;23666208;19147576;21559462;23334958;22488178 54583 Q9GZT9;Q9NTU9 ABBA01033038;ABBA01033039;AF229245;AF246630;AF246631;AF277174;AF277176;AF334711;AI017372;AJ227859;AJ310543;AL117352;AL445524;AL833885;AMYH01001819;BC005369;CH471098;CS681768;DQ975380;KC554048;NG_015865;NM_022051 AAG33965;AAG34568;AAH05369;AAK07534;AAK07536;ABM44413;AGL94925;CAC42509;CAD38741;CAP11376;EAW69959;NP_071334;Q9GZT9 Hs.444450 1671253;1676396;1778869;2147197;2150055;2156052;2165604;2165998;2166000;2173845 A001W16;G19709;RH15809;RH36231;RH48299;RH64701;RH79614;SHGC-76521;STS-T77466;WI-11258 C1orf12;DKFZp761F179;ECYT3;HIF-PH2;HIFPH2;HPH-2;HPH2;PHD2;SM20;ZMYND6 HIF prolyl hydroxylase 2;HIF-PH2;HIF-prolyl hydroxylase 2;HPH-2;OTTHUMP00000036152;egl nine homolog 1;egl nine-like protein 1;hypoxia-inducible factor prolyl hydroxylase 2;prolyl hydroxylase domain-containing protein 2;zinc finger MYND domain-containing protein 6 APPROVED protein-coding ENSG00000135766 1232 06971 606425;609820 REVIEWED 736598 EGR3 early growth response 3 This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010] 8 8 p23-p21 22601119 22606760 - 22545174 22550815 - 1580863;6480464 15171706;11909874;1906159;9731539;9488654;19453261;19124717;18059339;17360599;15489334;15173177;14525795;12477932;8889549;8443122;20634891;20687139;19822898;19839995;19965691;20144677;20379146;20537399;20506119;22425949;21421043;23485457;23342084;22276163;22370066 1960 B4DH80;E5RIM5;Q06889 ABBA01005526;AC105046;AK292464;AK294968;AK295134;AK313604;AMYH01018567;BC104765;BC112279;CH471080;DC333411;N66802;NM_001199880;NM_001199881;NM_004430;S40832;X63741 AAB19317;AAI04766;AAI12280;ADR82983;BAF85153;BAG36369;BAG58041;BAG58157;CAA45275;EAW63649;NP_001186809;NP_001186810;NP_004421;Q06889 Hs.534313 1656272;1788810;2108051;2126099;5123853 EGR3_8320;G15926;RH141385;RH17894;WI-15547 EGR-3;MGC138484;PILOT EGR-3;OTTHUMP00000123491;OTTHUMP00000224671;early growth response protein 3;zinc finger protein pilot APPROVED protein-coding ENSG00000179388 3240 03881 602419 REVIEWED 737111 EGR1 early growth response 1 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppresor gene. [provided by RefSeq, Jul 2008] 5 5 q31.1 137829080 137832903 + 137801181 137805004 + 1580863;1626499;1626496;1626498;5131853;5131854;5131877;5131894;5131993;5131872;4144870;5131902;5131903;5131654;5131887;5132266;5131860;5131862;5131878;5130915;5131874;5131875;5131883;5131942;5131647;5131652;5131881;5131892;5131944;2289081;5131899;5131937;5131859;5131644;5131645;5131885;4890001;5131973;5131985;5131938;5131662;5131893;5131876;5131925;5131984;5131660;5131890;5131898;5131904;5131939;5131943;5131888;5131924;6480464;6907045 16930406;15597579;10806043;18830406;15469929;20539010;17310878;18507785;19188657;19347046;16713977;16551742;16025126;19342415;17384085;21559295;20935109;18774390;21099169;20889906;20023177;11948124;21489990;14670837;20110555;16601242;7585551;7684483;16933469;15033019;17420284;19679873;10712437;19517020;19158123;11021835;11254538;14961185;21283769;18356564;20675054;15774784;19833116;21289196;18599502;12816737;16488723;16124058;9212230;19200397;15809371 21189327;21224049;12507899;12477932;12470865;12457461;12456801;12439908;12433834;12393577;12384223;12379479;12235180;12165491;12065847;12011097;11978801;11956220;11925592;11909874;11830539;11819815;11795984;11278640;11251186;11124866;10849212;10671503;10575214;10409428;10082522;10079243;10051405;10049687;9806899;12560508;14744935;19467232;19446747;19435811;19432968;19307576;19307156;19276347;19261809;19245972;19152168;19131339;19115247;19112164;19074849;19074480;19032775;18989526;18842581;18780286;18772333;18711316;18682391;18675783;18636116;18604866;18583706;18525291;18515748;18489490;18469860;18460021;18435749;18434089;18434015;18324520;18316600;18303024;18281687;18247371;18215136;18204200;18174470;18171299;18088351;18068676;18067864;18027854;17986608;17975260;17967787;17932312;17671831;17631291;17631285;17599039;17581316;17559061;17516844;17502875;17494953;17448597;17257596;17099140;16995904;16858414;16831524;16741963;16702209;16552541;16464174;16393964;16382041;16260776;16093249;16091742;16079301;16007175;15999367;15923644;15910736;15875316;15709168;15689620;15640148;15611055;15548700;15545275;15523672;15517593;15489334;15486985;15449318;15231681;15225550;15211096;15155664;15023995;15003938;14985468;14966901;14722058;14662774;14522979;12958075;12947119;12890669;12872165;12729460;12706485;12690110;12637574;12618431;12571843;12569082;12566441;12560487;12553721;12553019;12543866;12517959;8668170;8662759;7624335;3839394;3127059;2377485;2110381;2109185;1702972;1569051;1411083;1383501;1090709;12840049;15616591;21479245;21968973;20621662;20016208;21436631;20936779;14979875;1662794;19057511;19374776;19426596;19526316;19724854;19747485;19765320;19786090;19822898;19837667;19837979;19878561;19885607;19888474;19913601;19915002;19940138;20009530;20018936;20053757;20087343;20121949;20144677;20190820;20204305;20363028;20372793;18281035;20690147;20864524;20489156;20811575;20448047;20507991;20348948;20403028;20585888;19781349;20506119;21118966;21725089;20945384;21160498;20414733;21354100;21365018;21368226;21506108;20398657;22316125;22721276;23121767;21321112;18704310;22713211;21596316;21297666;21419860;21617851;22053691;23029358;21688838;21791614;21336263;21325822;21743491;21995436;21551235;22433566;22455954;22531302;18718911;21354147;21931594;21998680;21743958;22127986;22428032;22832523;22115966;22140445;22431919;22198386;22344601;22918686;22095683;22634339;23142458;21212994;19067769;23152075;22912725;23103837;23178451;19050264;20578042;20862322;22659570;22508482;22878149;23127556 1958 P18146;Q546S1 ABBA01068671;AC113403;AJ243425;AK298101;AK301065;AMYH01015642;BC041701;BC073983;CH471062;CS691417;M24019;M62829;M80583;NG_021374;NM_001964;X52541 AAA35815;AAH73983;ACE86880;ACE87567;BAG60386;BAG62672;CAA36777;CAB46678;CAP12211;EAW62135;EAW62136;NP_001955;P18146 Hs.326035;Hs.708393 1671899;1794570;1794878;1795128;1795746;2131350;2152663 D5S2415;EGR1_437;PMC321436P3;PMC64850P3;PMC98754P1;SHGC-11945;WI-12096 AT225;G0S30;KROX-24;NGFI-A;TIS8;ZIF-268;ZNF225 EGR-1;OTTHUMP00000159483;early growth response protein 1;nerve growth factor-induced protein A;transcription factor ETR103;transcription factor Zif268;zinc finger protein 225;zinc finger protein Krox-24 APPROVED protein-coding ENSG00000120738 3238 00549 128990 REVIEWED 736328 EGLN2 egl nine homolog 2 (C. elegans) The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011] 19 19 q13.2 45996888 46006177 + 41305048 41314346 + 1580863;1334463;1334466;6480464;6483503;6484113;6907045 15563310;14597660;20396958 19229863;12039559;11595184;11850811;19631610;19339211;19147576;18927305;18773095;18710826;17114296;17101781;16649251;16509823;16381901;16344560;15489336;15489334;15247232;15231748;15156561;14702039;12670503;12615973;12477932;12351678;12163023;12004076;11598268;11595178;11574160;11292862;11292861;11230166;11076863;18285459;15210114;23077531;23275444;20574001;19587290;22006925;11256614;15474027;16169070;16511565;20418890;20600011;20727020;20840881;20959442;20978146;18264140;19134330;16958618;21163940;20599946;21951999;21748337;21887331;22343896;22080838;21877141;22286099;22395314;22859986;23026137;23531419 112398 M0QXM8;M0QXR0;M0R035;M0R0Z6;M0R110;M0R1A3;M0R1L0;M0R1W4;M0R2X9;M0R350;Q96KS0 AA994838;ABBA01040791;ABBA01040792;AC008537;AJ310544;AK025396;AK026863;AK074408;AK098182;AK314741;AL133009;AL832506;AMYH01009808;AMYH01009809;AY040565;BC001723;BC036051;BG719538;CH471126;DA300182;DB049419;NM_053046;NM_080732 AAH01723;AAH36051;AAK82943;BAG37282;CAB61353;CAC42510;CAL38684;EAW57007;EAW57008;EAW57009;EAW57010;EAW57011;NP_444274;NP_542770;Q96KS0 Hs.515417;Hs.730737 1677218;2118954;2160477 D2S2863;RH93347;SHGC-64133 DKFZp434E026;EIT6;FLJ95603;HIF-PH1;HIFPH1;HPH-1;HPH-3;PHD1 HIF prolyl hydroxylase 1;HIF-PH1;HIF-prolyl hydroxylase 1;HPH-1;egl nine homolog 2;estrogen-induced tag 6;hypoxia-inducible factor prolyl hydroxylase 1;prolyl hydroxylase domain-containing protein 1 APPROVED protein-coding ENSG00000269858 14660 06970 606424 REVIEWED 732652 EGLN3 egl nine homolog 3 (C. elegans) 14 14 q13.1 33463172 33490035 - 34393421 34420284 - 1580863;1334466;6480464;6483503;6484113;6907045 14597660;20396958 16958618;21421125;15721254;18954447;18927305;18347341;18337469;17684156;17003045;15210114;22778395;16407229;16098468;15489334;15251459;15247232;15156561;14702039;12670503;12615973;12477932;12163023;11598268;11595184;11595178;11574160;8125298;20599946;15474027;16511565;19339211;19574556;19584355;19724277;19737309;19786027;20028863;20379614;20727020;20959442;21317538;18264140;20978507;22905089;21297970;21575608;21620138;17344222;21483450;22006925;21890473;21906983;22343896;18781797;21748337;21887331;21987572;21988832;22898032;23275444;22087251;21877141;22286099;22395314;22797300;22290580;19147576;22797925;22948157 112399 F8VR39;F8W1G2;G3V3M1;Q9H6Z9 ABBA01061446;AJ310545;AK025273;AK026918;AK123350;AK225473;AL358340;AMYH01005649;BC010992;BC064924;BC102030;BC105938;BC105939;BC111057;BG716229;BX346941;BX354108;CH471078;CR592368;DQ975379;NM_022073 AAH10992;AAH64924;AAI02031;AAI05939;AAI05940;AAI11058;ABM44412;BAB15101;BAG53892;CAC42511;EAW65929;NP_071356;Q9H6Z9 Hs.135507 1681167;1690284;1690942;2166930 RH69722;RH80356;RH93914;RH93981 FLJ21620;HIFP4H3;HIFPH3;MGC125998;MGC125999;PHD3 HIF prolyl hydroxylase 3;HIF-PH3;HIF-prolyl hydroxylase 3;HPH-1;HPH-3;OTTHUMP00000178814;OTTHUMP00000243967;egl nine homolog 3;egl nine-like protein 3 isoform;hypoxia-inducible factor prolyl hydroxylase 3;prolyl hydroxylase domain-containing protein 3 protein-coding ENSG00000129521 14661 06972 606426 VALIDATED 1352442 EGR2 early growth response 2 The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 10 10 q21.1 64241763 64246133 - 64571756 64578927 - 1358619;1601012;1601014;1580863;6480464;6484113;7240710 10502832;10369870;12970165 16912585;12560487;14532282;19453261;19000991;18678671;17717711;16582099;16495311;16344560;16198564;16169070;15947997;15489334;15241803;15173177;15164054;14702039;14596916;12736090;12687019;12609493;12477932;12471219;11909874;11835375;11545686;11523566;11239949;10960786;10762521;10371530;9537424;8702157;8093858;7935840;3140236;2496302;2111009;20628624;20687139;19651900;20067763;20144677;20194224;20379146;21479245;20513111;21057508;20506119;21042708;22691714;22734907;21514423;20398657;21703609;21836637;22832960;22327514;21988832;23485457;22271166;22089088;20301384;20301641;22522483;23042114;22546699;19592273;22915601 1959 B4DL38;P11161 ABBA01019491;AF139463;AK091399;AK296830;AK312813;AL133417;AMYH01002774;BC035625;CD370447;CH471083;CQ834156;CQ834160;CR749641;DA581108;DB242561;HI574260;J04076;NG_008936;NM_000399;NM_001136177;NM_001136178;NM_001136179;X53700 AAA52372;AAD24588;AAH35625;BAG35671;BAG52349;BAG59400;CAH05293;CAH05295;CAH18435;CBX47619;EAW54238;EAW54239;NP_000390;NP_001129649;NP_001129650;NP_001129651;P11161 Hs.1395 1742229;1795748;2145828 EGR2_611;GDB:193860;RH1580 AT591;CMT1D;CMT4E;DKFZp686J1957;FLJ14547;KROX20 E3 SUMO-protein ligase EGR2;EGR-2;KROX-20, Drosophila, homolog (early growth response-2);Krox-20 homolog, Drosophila;OTTHUMP00000019675;early growth response protein 2;zinc finger protein Krox-20 APPROVED protein-coding ENSG00000122877 3239 00551 129010;145900;605253;607678 REVIEWED 735817 EGR4 early growth response 4 2 2 2 p13 73368884 73371656 - 73371565 73374181 - 73518057 73520829 - 728504;1580863;6480464 1584812 12477932;1658795;16344560;15815621;12560487;8504297;2072895;19828938;20144677;22691714 1961 B7ZKU3;Q05215 ABBA01075580;AC010913;AK314154;AMYH01010436;BC034462;BC136252;BC143379;BX091371;CH471053;DA151016;DA711319;NM_001965;X60104;X69438 AAI36253;AAI43380;AAX88903;BAG36840;CAA42698;CAA49214;EAW99734;NP_001956;Q05215 Hs.3052 2185254 RH70849 NGFI-C;NGFIC;PAT133 AT133;EGR-4;OTTHUMP00000213065;early growth response protein 4 protein-coding ENSG00000135625 3241 00550 128992 VALIDATED 69152 EGFR epidermal growth factor receptor The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. Multiple alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. 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1956 C9JYS6;E9PFD7;Q504U8;Q9GZX1 AACC02000089;AB209442;ABBA01011847;ABBA01011848;ABBA01011849;ABBA01011850;AC006977;AC073324;AF125253;AF125539;AF277897;AF288738;AI217671;AK225422;AK290352;AK294750;AL598260;AMYH01017268;AU137334;AW163038;AW295229;AY550966;AY588246;AY698023;AY698024;BC070081;BC094761;BC118665;BC128419;CB160831;CH236957;CH471201;CS238505;CS542488;DQ088980;EF210210;EF210211;GM619915;GU255993;HC464560;HC464562;HC464564;HC464566;HM437234;HM437235;HQ730875;HQ912715;HQ999997;JA807020;JA807083;JA913745;K03193;M11234;M38425;NG_007726;NM_005228;NM_201282;NM_201283;NM_201284;U48722;U48723;U48724;U48725;U48726;U48727;U48728;U48729;U95089;X00588;X00663;X06370 AAA52370;AAA52371;AAA63171;AAB53063;AAC50796;AAC50797;AAC50798;AAC50799;AAC50800;AAC50801;AAC50802;AAC50803;AAC50804;AAG35786;AAG35787;AAG35788;AAG35789;AAG35790;AAG43240;AAG43243;AAG43244;AAH94761;AAI18666;AAI28420;AAK01080;AAS07524;AAS83109;AAT52212;AAT97978;AAT97979;AAZ66620;ABQ66237;ABQ66238;ADL28125;ADN43066;ADY76965;ADZ75461;BAD92679;BAF83041;BAH11869;CAA25240;CAA25282;CAA29668;CAJ55813;CAM91181;CAV33298;CBK51921;CBK51922;CBK51923;CBK51924;CCO75437;CCO75439;CCV20014;EAW50962;EAW50963;EAW50964;EAW50965;NP_005219;NP_958439;NP_958440;NP_958441;P00533 Hs.488293 1336820;1645594;1650250;1658756;1669425;1669533;1674565;1678633;1693660;1693670;1710926;1714593;1715591;1735650;1741573;1752349;1771941;1790593;1851099;1857869;2141565;2141993;2147564;2154334;2167237;2169691;2181704;2184313;2217290 D7S1988;D7S2066E;D7S2357;D7S2550;EGFR;EGFR_3293;G31779;GDB:1317670;GDB:1318577;GDB:181540;GDB:4585323;GDB:4585359;GDB:6028548;HSC215_(7Gr546mb);RH11126;RH119810;RH120939;RH12420;RH17519;RH46070;RH71234;RH94246;SHGC-106249;SHGC-32574;SHGC-57944;SHGC-58591;SHGC-58597;SHGC-84087;WI-21765 ERBB;ERBB1;HER1;PIG61;mENA OTTHUMP00000159661;OTTHUMP00000159662;OTTHUMP00000159663;OTTHUMP00000209210;OTTHUMP00000209211;avian erythroblastic leukemia viral (v-erb-b) oncogene homolog;cell growth inhibiting protein 40;cell proliferation-inducing protein 61;epidermal growth factor receptor;epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian);erythroblastic leukemia viral (v-erb-b) oncogene homolog;proto-oncogene c-ErbB-1;receptor tyrosine-protein kinase erbB-1 APPROVED protein-coding ENSG00000146648 3236 00579 131550;211980 REVIEWED 1342687 EHBP1L1 EH domain binding protein 1-like 1 11 11 11 q13.1 62670174 62686826 + 65100085 65116692 + 65343509 65360116 + 6480464 14702039;12477932;12107410;11790784;20708005;22863883;22939629;21139048;21906983 254102 E9PIH6;E9PSB0;H0YDZ9;Q8N3D4 ABBA01024108;ABBA01024109;ABBA01024110;AK024451;AK092750;AL713799;AL834433;AMYH01003722;AMYH01003723;AP001362;BC024207;BX443367;CA397617;NM_001099409 AAH24207;BAB15741;CAD39093;NP_001092879;Q8N3D4 Hs.502867 1673455;1686330;5015619;5015961;5020948;5037552 D11S3114;D11S4617;D15S1477;D8S2279;G35510;RH80452 DKFZp762C186;FLJ35431 EH domain-binding protein 1-like protein 1;OTTHUMP00000233128;tangerin protein-coding ENSG00000173442 30682 VALIDATED 1346487 EHBP1 EH domain binding protein 1 This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 2 2 p15 62786638 63127126 + 62900986 63273622 + 6480464;7240710 21145461;19423541;19318432;18264098;16344560;15342556;15247266;15144186;14702039;14676205;12477932;12107410;10048485;20690139;20717903;20878950;21071540;20936779;17643375;19549807;19767753;19866473;19900942;19902474;20450899;20460480;20468071;18029348;22412388;21139048;21890473;21906983 23301 A8K930;B5MC86;C9IYU2;C9J268;C9JEP1;C9K0H9;H7BZ98;H7C0Q4;H7C1E6;Q9NWI9 AB020710;ABBA01075391;ABBA01075392;ABBA01075393;ABBA01075394;ABBA01075395;ABBA01075396;ABBA01075397;AC007098;AC009501;AC092155;AC092567;AK000828;AK000986;AK292545;AK309125;AK310828;AL833968;AMYH01010393;AMYH01010394;AY331186;AY531390;BC029477;BC067215;BP361773;CA394214;CH471053;DA403235;NG_016758;NM_001142614;NM_001142615;NM_001142616;NM_015252 AAH29477;AAH67215;AAQ97141;AAS48537;AAX82024;AAY14789;AAY24356;BAA74926;BAA91391;BAF85234;BAG50844;CAD38814;EAW99969;EAW99970;EAW99971;NP_001136086;NP_001136087;NP_001136088;NP_056067;Q8NDI1 Hs.271667 1341515;1645726;1654591;1655817;1656303;1660254;1686446;1689590;1697226;1714547;1772077;1779858;1784142;2143598;2150125;2161044;2161046;2171958;2175393;2180404;5020940;5022578;5093982 A005N18;A010A05;D1S1423;D2S2090;D2S2320;D2S2578;G20349;G29126;G33037;RH102105;RH119787;RH47091;RH65596;RH66030;RH68300;RH68485;RH68604;RH69312;RH79581;RH92658;SHGC-153857;SHGC-154630;WI-16387 HPC12;KIAA0903;NACSIN EH domain-binding protein 1;NPF calponin-like protein;OTTHUMP00000159826;OTTHUMP00000201902;OTTHUMP00000201903;OTTHUMP00000201905 APPROVED protein-coding ENSG00000115504 29144 10109 609922;611868 REVIEWED 1319124 EHD1 EH-domain containing 1 This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. [provided by RefSeq, Jul 2008] 11 11 q13 64376784 64402767 - 64620208 64646191 - 1580863;6480464;6907045 15371016;18661112;17899392;17507647;17284518;17081983;15710626;15489334;15247266;15020713;14702039;12665801;12477932;12121420;12032069;11423532;10673336;10564830;10395801;9397678;9253601;9110174;8619474;19369419;19798736;19864458;20489164;17233914;20961375;22863883;22939629;21115825;22456504;21139048;21890473;21906983;22284051;20106972 10938 B2R5U3;C9IZH1;C9J2Z4;C9JC03;C9JDQ8;C9JIJ3;Q9H4M9 ABBA01024139;ABBA01024140;ABBA01024141;AF001434;AF086188;AF099011;AK096747;AK097842;AK098723;AK124613;AK126581;AK297654;AK299096;AK300326;AK302930;AK312316;AMYH01003715;AP001187;AY007161;BC036898;BC104799;BC104825;CH471076;NM_006795 AAB81204;AAD45866;AAG02009;AAI04800;AAI04826;BAG35240;BAG53542;BAG60021;BAG61156;BAG62076;BAG64091;EAW74317;EAW74318;EAW74319;EAW74320;EAW74321;NP_006786;Q9H4M9 Hs.523774 1760171;1772365;1777492;1799090;1799638;1801688;1802002;1802214;1803628;1804326;1805220;1806924;1808214;1808574;1809210;1809752;1809996;1811192;1813512;1814324;1819364;1819496;1820036;1821572;1822068;1828584;1830422;1835836;1971668;1971670;1971672;1971674;1971676;1971678;1971680;1971682;1971684;1971686;1971688;1971690;1971692;1971694;1971696;1971698;1971700;1971702;1971704;1971706;1971708;1971710;1971712;1971714;1971716;1971718;1971720;1971722;1971724;1971726;1971728;1971730;1971732;1971734;1971736;1971738;1971740;1971742;1971744;1971746;1971748;1971750;1971752;1971754;1971756;1971758;1971760;1971762;1971764;1971766;1971768;1971770;1971772;1971774;1971776;1971778;1971780;1971782;1971784;1971786;1971788;1971790;1971792;1971794;1971796;1971798;1971800;1971802;1971804;1971806;1971808;1971810;1971812;1971814;1971816;1971818;1971820;1971822;1971824;1971826;1971828;1971830;1971832;1971834;1971836;1971838;1971840;1971842;1971844;1971846;1971848;1971850;1971852;1971854;1971856;1971858;1971860;1971862;1971864;1971866;1971868;1971870;1971872;1971874;1971876;1971878;1971880;1971882;1971884;1971886;1971888;1971890;1971892;1971894;1971896;1971898;2109277;2115253;2152983;2159475;2180127;5022651;5024761;5092704;5112844 A005R01;D11S2921;ECD00391;ECD00673;ECD01723;ECD01882;ECD01990;ECD02720;ECD03087;ECD03554;ECD04427;ECD05088;ECD05269;ECD05595;ECD05868;ECD05990;ECD06594;ECD07777;ECD08191;ECD10749;ECD10815;ECD11090;ECD11872;ECD12120;ECD15419;ECD16345;ECD19079;EHD1_9199;G32275;G33088;REN56718;REN56719;REN56720;REN56721;REN56722;REN56723;REN56724;REN56725;REN56726;REN56727;REN56728;REN56729;REN56730;REN56731;REN56732;REN56733;REN56734;REN56735;REN56736;REN56737;REN56738;REN56739;REN56740;REN56741;REN56742;REN56743;REN56744;REN56745;REN56746;REN56747;REN56748;REN56749;REN56750;REN56751;REN56752;REN56753;REN56754;REN56755;REN56756;REN56757;REN56758;REN56759;REN56760;REN56761;REN56762;REN56763;REN56764;REN56765;REN56766;REN56767;REN56768;REN56769;REN56770;REN56771;REN56772;REN56773;REN56774;REN56775;REN56776;REN56777;REN56778;REN56779;REN56780;REN56781;REN56782;REN56783;REN56784;REN56785;REN56786;REN56787;REN56788;REN56789;REN56790;REN56791;REN56792;REN56793;REN56794;REN56795;REN56796;REN56797;REN56798;REN56799;REN56800;REN56801;REN56802;REN56803;REN56804;REN56805;REN56806;REN56807;REN56808;REN56809;REN56810;REN56811;REN56812;REN56813;REN56814;REN56815;REN56816;REN56817;REN56818;REN56819;REN56820;REN56821;REN56822;REN56823;REN56824;REN56825;REN56826;REN56827;REN56828;REN56829;REN56830;REN56831;REN56832;REN56833;REN56834;RH36905;RH65431;SHGC-132442;SHGC-31898;STS-AA040336;STS-W49531 FLJ42622;FLJ44618;H-PAST;HPAST1;PAST;PAST1 EH domain-containing protein 1;OTTHUMP00000069746;OTTHUMP00000069747;OTTHUMP00000069748;OTTHUMP00000196087;PAST homolog 1;testilin APPROVED protein-coding ENSG00000110047 3242 09325 605888 REVIEWED 1346639 EHD3 EH-domain containing 3 2 2 2 p21 31299596 31333966 + 31310707 31344764 + 31456880 31491260 + 1580863;6480464;6907045 17507647;10673336;19139087;16344560;16251358;15489334;12665801;12477932;12121420;11423532;22406195;22675492;20489164;15020713;19820697;17233914;21906983;22337703;22139419 30845 B4DFR5;Q9NZN3 ABBA01074852;AF181264;AF214736;AK294222;AK316006;AL121657;AMYH01010219;AMYH01010220;BC033100;CH471053;DA196836;NM_014600 AAF32285;AAF40471;AAI56224;AAI56997;BAG57526;BAH14377;EAX00480;EAX00481;NP_055415;Q9NZN3 Hs.368808 1656285;1656287;1740121;1788686;1795750;2171683;5101755 D2S2137;EHD3_613;RH109431;RH11745;RH12575;RH142835;T03471 PAST3 EH domain containing 3;EH domain-containing protein 3;OTTHUMP00000125203;PAST homolog 3 protein-coding 3244 16170 605891 VALIDATED 1348695 EHD2 EH-domain containing 2 This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45022299 45052093 + 52908502 52938203 + 48216601 48246391 + 1580863;6480464;6907045 10673336;17914359;16344560;16155252;15489334;15242332;15182197;14702039;14676205;12477932;20489164;22505029;15020713;17233914;22939629;21756249;17081983;18781797;21139048;22448906;21115825;22323287;21988832;23000965;23354948;22679923 30846 B4DNU6;M0R1B9;Q9NZN4 ABBA01041055;AC008745;AC010519;AF181263;AF454952;AK026134;AK074701;AK097126;AK097228;AK293429;AK296907;AK298067;AK300512;AK315548;AMYH01009887;AMYH01009888;BC014445;BG677716;CH471126;DA094880;DB260808;NM_014601 AAF40470;AAH14445;AAL51078;ABM83761;ABM87081;BAC11147;BAG37926;BAG53436;BAG56934;BAG59463;BAG60358;BAG62224;EAW57505;EAW57506;NP_055416;Q9NZN4 Hs.744963 1672058 WI-11704 FLJ96617;PAST2 EH domain containing 2;EH domain-containing protein 2;PAST homolog 2 APPROVED protein-coding ENSG00000024422 3243 10434 605890 REVIEWED 1349142 EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 3 q26.3-q28 183355409 183418245 - 186391106 186454531 - 184908412 184971886 - 1580863;6480464;6907045 1651711;8188243;19240061;18660489;12477932;8125298;10856712;19734545;21042317;20877624;20178365;9053548;16781659;18029348;22002062;2895531 1962 C9JJE0;Q08426;Q9NY65 ABBA01058425;ABBA01058426;ABBA01058427;ABBA01058428;AC007934;AJ427345;AK223460;AK291798;AK301521;AMYH01013727;BC011030;BC030982;BC038948;BC110460;CH471052;DC418722;L07077;NG_015999;NM_001166415;NM_001966;S50245 AAA53289;AAB19482;AAH30982;AAH38948;AAI10461;BAD97180;BAF84487;BAG63025;CAD22483;EAW78228;EAW78229;EAW78230;NP_001159887;NP_001957;Q08426 Hs.429879 1709354;2116728;2120060;2167692;2178729 D3S3916;D3S4215;SHGC-77625;SHGC-81682;STS-L07077 ECHD;L-PBE;LBFP;LBP;MGC120586;PBFE 3,2-trans-enoyl-CoA isomerase;L-3-hydroxyacyl-CoA dehydrogenase;L-bifunctional protein, peroxisomal;OTTHUMP00000210415;OTTHUMP00000210416;PBE;enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase;peroxisomal bifunctional enzyme;peroxisomal enoyl-CoA hydratase APPROVED protein-coding ENSG00000113790 3247 06125 607037 REVIEWED 734140 EHD4 EH-domain containing 4 15 15 15 q11.1 18959279 19032401 - 39978930 40052034 - 42191638 42264755 - 1580863;6480464;6907045 15592455;10673336;17353931;11256614;18331452;15489334;15342556;12477932;12097419;11533061;8889548;20489164;17233914;21187387;22939629;22863883;21139048;21890473;21906983 30844 A8K9B9;Q9H223 ABBA01038383;ABBA01038384;ABBA01038385;AC039056;AF086163;AF181265;AF307137;AF323924;AF454953;AK024902;AK074621;AK292634;AMYH01006580;BC006287;BC051823;BC077716;BP314075;CF541306;CH471125;NM_139265 AAF40472;AAG28784;AAH06287;AAH51823;AAK11599;AAL51079;ABM83671;ABM86944;BAF85323;EAW92525;EAW92526;NP_644670;Q9H223 Hs.143703 1681040;1732451;1736734;1736766;1756237;2111230;2111244;2124319 D15S1190;D15S485;D15S493;D15S514;D15S752;D15S769;RH98913;SHGC-143122 PAST4 EH domain containing 4;EH domain-containing protein 4;OTTHUMP00000160905;PAST homolog 4;hepatocellular carcinoma-associated protein 10/11;hepatocellular carcinoma-associated protein HCA11;ortholog of rat pincher;pincher protein-coding ENSG00000103966 3245 10435 605892 VALIDATED 7175183 EI24P1 etoposide induced 2.4 pseudogene 1 3 q26.32 175785824 175786688 - 100129423 ABBA01058605;AC104640;AMYH01013668;NG_030107 pseudo 44586 INFERRED 7175199 EI24P2 etoposide induced 2.4 pseudogene 2 1 q23.1 158423988 158425060 + 100129866 ABBA01016628;AL365440;AMYH01001443;NG_022809 5123661 RH64693 pseudo 44587 INFERRED 1321091 EHF ets homologous factor This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 11 11 p12 34599244 34639657 + 34642588 34684835 + 1580863;6480464 10644770;22505649;17353931;18950845;18475289;18037958;17903297;17627613;17172423;17027647;16554811;16380452;15489334;12477932;12444029;12359648;11259407;10737800;10527851;8889548;16344560;15851553;21107309;16341674;21602797;12407165;12713734;17172821;17905856;18044710;21491078;21617703;21855111;23185370;21900206;23439650;23144326;23251661 26298 E9PN75;E9PPS9;E9PQR6;E9PQX0;Q9NZC4 ABBA01060864;AC087783;AF124438;AF124439;AF163685;AF170583;AF203977;AF212848;AK025244;AK309318;AK310867;AL157952;AL703839;AMYH01003488;AY882601;BC038995;BF754249;BM821693;BM834021;BM975808;BX486553;CB240726;CD722227;CH471064;DA460976;DB214606;NG_029177;NM_001206615;NM_001206616;NM_012153 AAD30990;AAD30991;AAF06998;AAF61670;AAG35644;AAH38995;AAW80658;ABZ92399;CAC12700;CAC12701;EAW68162;EAW68163;EAW68164;EAW68165;EAW68166;NP_001193544;NP_001193545;NP_036285;Q9NZC4 Hs.653859 1342097;2107031;2144239;2168246;7183802 D11S907;EHF__7574;RH48108;RH48285 ESE3;ESE3B;ESEJ ESE-3;ESE3 transcription factor;ETS domain-containing transcription factor;ETS homologous factor;OTTHUMP00000232936;OTTHUMP00000232937;OTTHUMP00000232938;OTTHUMP00000232939;OTTHUMP00000232943;epithelium-specific Ets transcription factor 3;epithelium-specific ets factor 3;hEHF APPROVED protein-coding 3246 16105 605439 REVIEWED 7175253 EI24P3 etoposide induced 2.4 pseudogene 3 3 p21.31 44566236 44567297 - 100131881 ABBA01024741;AC099669;AMYH01013120;NG_022202 pseudo 44588 INFERRED 7175201 EI24P4 etoposide induced 2.4 pseudogene 4 7 144702155 144703238 + 100420072 AACC02000041;ABBA01033549;AC073310;AMYH01018092;NG_026648 pseudo 44589 INFERRED 7175197 EI24P5 etoposide induced 2.4 pseudogene 5 8 54106906 54107935 + 100533660 ABBA01041714;AC009646;AMYH01018717;NG_028885 pseudo 44590 INFERRED 6767176 EHHADH-AS1 EHHADH antisense RNA 1 3 q27.2 184880689 184909743 + 12477932 339926 ABBA01058428;ABBA01058429;AC007934;AL703608;AMYH01013727;BC047598;NR_038990 Hs.567848;Hs.638050 APPROVED miscrna ENSG00000223358 44133 VALIDATED 1351030 EID2 EP300 interacting inhibitor of differentiation 2 19 19 19 q13.2 36831159 36832551 - 44721286 44722678 - 40029446 40030838 - 737633;1580863;6480464 12477932 14612439;14585496;12586827;15970276;18029348;21139048 163126 Q8N6I1 ABBA01040733;AC011500;AK128468;AMYH01009794;AY251272;BC030137;BC099899;CH471126;NM_153232 AAH30137;AAH99899;AAP12559;BAC87454;EAW56909;NP_694964;Q8N6I1 Hs.18949 1658208;1668730;1680827 RH91348;SHGC-37129;STS-N99910 CRI2;EID-2;MGC20452 CREBBP/EP300 inhibitor 2;CREBBP/EP300 inhibitory protein 2;E1A like inhibitor of differentiation 2;EID-1-like inhibitor of differentiation 2;EP300-interacting inhibitor of differentiation 2;OTTHUMP00000082707 protein-coding 28292 16754 609773 VALIDATED 7246233 EHMT1-IT1 EHMT1 intronic transcript 1 12477932;14702039 643210 ABBA01022785;AK097611;AK127990;AL590627;AL611925;AMYH01021917;BC132855;BC132857;BX106199;NG_011776;NR_024341 BAC05120 Hs.721002 miscrna 48714 VALIDATED 1320441 EI24 etoposide induced 2.4 This gene has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The protein encoded by this gene contains six putative transmembrane domains and may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 11 q24 122599610 122614886 + 124944508 124959785 + 125439298 125454575 + 1580863;6480464;6907045 9305847;10594026;17981155;17081983;12477932;11753653;11498783;10965130;8125298;21154811;21139048;21803008;21890473 9538 A6NES3;E9PK61;E9PL33;E9PLB8;E9PM05;E9PQN7;E9PS58;O14681 AB209820;ABBA01031240;ABBA01031241;AF010313;AK223029;AK291951;AK296620;AK301556;AK315841;AK316539;AMYH01004108;AP001494;BC002390;BC029333;BM450796;BM467354;BQ936285;CH471065;NG_032933;NM_001007277;NM_004879 AAC39531;AAH02390;ABM82287;ABM85467;BAD93057;BAF84640;BAF98732;BAG59228;BAG63052;BAH14910;EAW67641;EAW67642;NP_001007278;NP_004870;O14681 Hs.643514 1666666;1778979;1782452;1856578;2140973;5093606;5096175;5123661 2002;A009S32;D11S2234E;G32817;RH18419;RH64693;SHGC-155484;STS-T46944 EPG4;PIG8;TP53I8 OTTHUMP00000231287;ectopic P-granules autophagy protein 4 homolog;etoposide induced 2.4 mRNA;etoposide-induced protein 2.4 homolog;p53-induced gene 8 protein;tumor protein p53 inducible protein 8 APPROVED protein-coding ENSG00000149547 13276 05526 605170 REVIEWED 1603273 EID2B EP300 interacting inhibitor of differentiation 2B 19 19 19 q13.2 36823341 36825205 - 44713470 44715334 - 40021630 40023494 - 6480464 15970276;14702039;12477932;16169070 126272 Q96D98 ABBA01040733;AC011500;AK096263;AMYH01009794;BC009725;BC040157;BC051333;CH471126;NM_152361 AAH09725;BAC04743;EAW56908;NP_689574;Q96D98 Hs.135181 5117897 GDB:631813 EID-3;FLJ38944 EID-2-like inhibitor of differentiation 3;EID-2-like inhibitor of differentiation-3;EID-2B;EP300-interacting inhibitor of differentiation 2B protein-coding ENSG00000176401 26796 08795 PROVISIONAL 1348426 EID1 EP300 interacting inhibitor of differentiation 1 15 15 q21.1 46957582 46959672 + 49170290 49172380 + 1580863;6480464 11073990;11964378;15837424;11073989;19276448;17559085;12477932;11223246;10828624;9660940;15806172;15949438;14963109;18557765;15044952;20486779;21163940;20516075;20639865;21900206;22186421;20972266;21139048;21890473;21906983;21963094;22505724 23741 H0YKG9;H0YLQ9;H0YN68;Q9Y6B2 ABBA01039135;AC012379;AF092135;AF109873;AF274947;AF349444;AI360508;AK098383;AK315365;AL109701;AL357456;AMYH01006629;BC007944;BC024151;BC114944;BC114946;BI550673;CH471082;NM_014335 AAD40377;AAG35179;AAI14945;AAI14947;AAK07524;AAK29640;BAC05296;BAG37758;CAB52022;CAB93108;EAW77357;NP_055150;Q9Y6B2 Hs.255973 1665366;1672324;1687389;1856041;5014726 G27429;RH15715;RH66594;STS-N93791;STS-R92213 C15orf3;CRI1;EID-1;IRO45620;MGC138883;MGC138884;PNAS-22;PTD014;RBP21 21 kDa pRb-associated protein;CREBBP/EP300 inhibitor 1;CREBBP/EP300 inhibitory protein 1;E1A-like inhibitor of differentiation 1;EP300-interacting inhibitor of differentiation 1;NB4 apoptosis related protein;OTTHUMP00000231505;Rb- and p300-binding protein EID-1;retinoblastoma protein-associated protein protein-coding ENSG00000255302 1191 06907 605894 VALIDATED 6481282 EIF1AX-AS1 EIF1AX antisense RNA 1 100874078 AL732366 APPROVED miscrna 40208 1603793 EID3 EP300 interacting inhibitor of differentiation 3 12 12 12 q23.3 104361247 104362681 + 103221679 103223113 + 104697510 104698983 + 6480464 16189514;15987788;15752197;12477932;18086888;15970276;21364888;22797925 493861 Q8N140 ABBA01053197;AC090107;AK098698;AMYH01004713;BC027612;BI461575;CH471054;NG_029392;NM_001008394 AAH27612;BAC05385;EAW97747;NP_001008395;Q8N140 Hs.659857 1700570 RH103907 FLJ25832;NS4EB;NSE4B;NSMCE4B E1A-like inhibitor of differentiation 3;EID-1-like inhibitor of differentiation 3;EID-3;EP300-interacting inhibitor of differentiation 3;OTTHUMP00000231506;non-SMC element 4 homolog B;non-structural maintenance of chromosomes element 4 homolog B protein-coding ENSG00000255150 32961 17415 612986 VALIDATED 1316868 EHMT1 euchromatic histone-lysine N-methyltransferase 1 The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 9 9 q34.3 139725238 139850400 + 140513444 140730579 + 1580863;6480464;6907045;7240710 19505873;22726846;12004135;19128641;19124506;18264113;16826528;16702210;16501248;15805155;15489334;14702039;12477932;12168954;11347906;8889548;20588255;19010785;19264732;19531572;19843671;20084102;20118233;20379614;20453000;20211142;20800603;20960050;21041608;20945554;17403666;21538692;20562864;21204793;16147992;22086334;22659877;21549307;21890473;21906983;21258344;21963094;23000965;23275563;12700765;19596686;19850743;20360068;21987572;21131967;23541084;22505724;22801426 79813 Q9H9B1 AB028932;AB058779;ABBA01022779;ABBA01022780;ABBA01022781;ABBA01022782;ABBA01022783;ABBA01022784;ABBA01022785;ABBA01022786;ABBA01022787;AF461894;AK022941;AL365502;AL590627;AL611925;AL713772;AL832865;AMYH01021916;AMYH01021917;AMYH01021918;AY083210;BC011608;BC025772;BC047504;BM681619;BQ028833;CA426038;CH471090;NG_011776;NM_001145527;NM_024757 AAH11608;AAH25772;AAH47504;AAM09024;AAQ04808;BAB14321;BAB47505;BAB56104;CAD28534;EAW88409;EAW88410;EAW88411;EAW88412;EAW88413;NP_001138999;NP_079033;Q9H9B1 Hs.495511 1339570;1656077;1704442;1749791;1765975;2186019;5015959 D10S2448;D9S1838;RH11945;RH48863;SHGC-111534;SHGC-149365;SHGC-82935 DEL9q34;DKFZp667M072;EUHMTASE1;Eu-HMTase1;FLJ12879;FP13812;GLP;GLP1;KIAA1876;KMT1D;RP11-188C12.1;bA188C12.1 G9a like protein;G9a-like protein 1;GLP1;H3-K9-HMTase 5;OTTHUMP00000022711;OTTHUMP00000022713;OTTHUMP00000212228;euchromatic histone methyltransferase 1;histone H3-K9 methyltransferase 5;histone-lysine N-methyltransferase EHMT1;histone-lysine N-methyltransferase, H3 lysine-9 specific 5;lysine N-methyltransferase 1D APPROVED protein-coding ENSG00000181090 24650 07383 607001;610253 REVIEWED 1605700 EHMT2 euchromatic histone-lysine N-methyltransferase 2 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. This gene is found near this cluster; it was mapped near the gene for C2 within a 120-kb region that included a HSP70 gene pair. These genes are all within the human major histocompatibility complex class III region. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but a recent publication shows that there is only a single gene. The protein encoded by this gene is thought to be involved in intracellular protein-protein interaction. There are three alternatively spliced transcript variants of this gene but only two are fully described. [provided by RefSeq, Jul 2008] 6 6 p21.31 31955515 31973443 - 31847536 31865464 - 6480464;6907045 20940408;8457211;19144645;19124506;19061646;18850007;18809684;18647749;18446223;17707230;17584299;17145766;17085482;17005678;16964243;16501248;16287849;16344560;16189514;15590646;15489334;15269344;14702039;14656967;12700765;12477932;12130538;12004135;11707778;11316813;2813433;15200951;20670891;19505873;22389001;14985713;16702210;17474147;17540172;19010785;19124609;19531572;19690169;19776757;19843671;19851445;20084102;20118233;20335163;20421388;20453000;19242095;19943104;19056828;19706462;19754958;19759913;20211142;20960050;21041608;16185068;16461774;16688220;18451879;18498648;18501190;18619962;18691967;20562864;17403666;17636019;17962312;17967884;20331966;20603076;23244065;23667531;23718855;23752268;21151833;17461779;20360068;21078624;21847359;21139048;21549307;21890473;21906983;22064703;22127260;21566081;21984853;21495674;22406531;22086334;22387026;22514736;22566634;23481705;23326239;21258344;21963094;23000965;23283977;22801367;23151507 10919 A2ABF8;A2ABF9;A2BED6;A2BED7;B0UZY0;B0UZY1;B0UZY3;H0Y4K5;Q96MH5 AB209433;ABBA01038091;ABBA01038092;ABBA01038093;AF134726;AJ315532;AK056936;AK092866;AK302904;AL662834;AL671762;AL844853;AMYH01016220;AMYH01016221;BA000025;BC002686;BC009351;BC018718;BC020970;BX005460;CH471081;CR388202;CR388219;CR759784;CR936237;DA099526;DA106400;NM_006709;NM_025256;X69838 AAD21811;AAD21812;AAH02686;AAH09351;AAH18718;AAH20970;BAB63294;BAB63295;BAB71314;BAD92670;BAH13838;CAA49491;CAC86666;EAX03540;EAX03541;EAX03542;EAX03543;EAX03544;NP_006700;NP_079532;Q96KQ7 Hs.709218 1739635;1848460;1856514;1856516;2115118;2134988;2189557;2191011;5014051;5015619;5020946;5021692;5037552 D11S3114;D15S948E;D6S2052;D8S2278;D8S2279;L17971;MARC_12895-12896:999881472:3;RH46780;RH70238;STS-X69838;UniSTS:237636;WI-19170;ksks210 BAT8;C6orf30;DKFZp686H08213;FLJ35547;G9A;GAT8;KMT1C;NG36 G9A histone methyltransferase;H3-K9-HMTase 3;HLA-B associated transcript 8;HLA-B-associated transcript 8;OTTHUMP00000029262;OTTHUMP00000029264;OTTHUMP00000174666;OTTHUMP00000174667;ankyrin repeat-containing protein;histone H3-K9 methyltransferase 3;histone-lysine N-methyltransferase EHMT2;histone-lysine N-methyltransferase, H3 lysine-9 specific 3;lysine N-methyltransferase 1C;protein G9a APPROVED protein-coding ENSG00000204371 14129 06854 604599 REVIEWED 1342567 EIF1 eukaryotic translation initiation factor 1 17 17 17 q21.2 36498354 36501125 + 37098653 37101424 + 39845127 39847898 + 6480464 10347211;15592455;15489334;12477932;11073994;10754390;10228174;10208429;8889549;7904817;20921384;16169070;22813744;21832049;22939629;21900206;21139048;21890473;21906983;21963094;23000965;23293029;22053931;22505724 10209 K7EM18;K7EQP2;P41567;Q6IAV3 AA159721;ABBA01006459;AC130686;AF083441;AF100737;AJ012375;AK311209;AK311862;AL050005;AMYH01008387;BC005118;BC008710;BT006645;BU165055;CH471152;CR457051;L26247;NG_009090;NM_005801 AAA60602;AAD19900;AAD52028;AAH05118;AAH08710;AAP35291;ABM87699;ABW03855;BAG34803;CAD66615;CAG33332;EAW60754;EAW60755;NP_005792;P41567 Hs.150580 1694580;1734436;1735726;1739501;1845426;2110901;2115421;5024761 D17S1407E;D17S1704;D17S864E;D8S1344E;ECD23930;G43274;RH36905;WI-9294 A121;EIF-1;EIF1A;ISO1;SUI1 OTTHUMP00000164728;eukaryotic translation initiation factor 1;protein translation factor SUI1 homolog;sui1iso1 protein-coding 3249 15449 VALIDATED 1347140 EIF1AXP1 eukaryotic translation initiation factor 1A, X-linked pseudogene 1 1 1 p36.13 16883633 16885305 - 17009586 17012744 - 16710414;15772651;15489334;12477932;10678173;8106356;21906983 280661 ABBA01008117;AL021920;AL137798;AMYH01000282;NG_002419 1666838;1682019;1733164;2153154;2179872 D1S1469;D1S3346;RH38723;SHGC-74291;WI-7823 EIF1AP1 APPROVED pseudo 19900 INFERRED 1601944 EIF1AD eukaryotic translation initiation factor 1A domain containing 11 11 11 q13.1 63088432 63093993 - 65520593 65526154 - 65764016 65769637 - 6480464 18173130;16189514;14702039;12477932;17207965;15342556;16344560;16751776;22095125;21139048;21890473;19322201 84285 E9PLI6;E9PNH5;E9PQD0;E9PRR8;E9PS30;E9PS76;Q8N9N8 ABBA01024094;AI831454;AK094129;AK311891;AMYH01003727;AP006287;AW872373;BC005131;BE669813;BE791453;BG149615;BP328412;BU790195;CH471076;CS300548;DA024526;DQ600634;NM_001242481;NM_001242482;NM_001242483;NM_001242484;NM_001242485;NM_001242486;NM_032325 AAH05131;ADQ32823;BAC04293;BAG34832;CAK32212;EAW74478;EAW74479;EAW74480;EAW74481;EAW74482;NP_001229410;NP_001229411;NP_001229412;NP_001229413;NP_001229414;NP_001229415;NP_115701;Q8N9N8 Hs.425178 1678945;1679944;2146792;2163816;5015881;5022576 D1S1361;GDB:335751;RH16528;RH69702;RH93037;WIAF-1719 MGC11102;haponin OTTHUMP00000234002;OTTHUMP00000234003;OTTHUMP00000234004;OTTHUMP00000234005;OTTHUMP00000234006;OTTHUMP00000234007;OTTHUMP00000234008;OTTHUMP00000234009;eukaryotic translation initiation factor 1A domain-containing protein;hypothetical protein mgc11102;probable RNA-binding protein EIF1AD protein-coding ENSG00000175376 28147 14411 VALIDATED 7174986 EIF1B-AS1 EIF1B antisense RNA 1 3 p22.1 40214636 40351189 - 12477932;14702039 440952 ABBA01024796;ABBA01024797;AC099331;AC099557;AC104186;AC130439;AK057627;AK309874;AMYH01013100;AMYH01013101;BC031275;BC045736;BC106900;BC118565;NR_033965 Hs.660388 1677302;1725553;1760111;1855762;2117467;2148090;2166996 A002V02;A004V33;HSC05A092;RH119175;RH80389;SHGC-107747;WI-14688 miscrna 44555 VALIDATED 1351588 EIF1AX eukaryotic translation initiation factor 1A, X-linked This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008] X X p22.12 20052557 20069887 - 20142636 20159966 - 1580863;6480464 8106356;18029348;12588972;17784828;16710414;15772651;15489334;14660691;12569173;12514125;12477932;12426392;11699879;11447110;10982835;10678173;9381176;20060839;20098747;21832049;22939629;22863883;20434207;21890473;21906983;19322201;23000965;23293029;22505724 1964 P47813 ABBA01071845;ABBA01071846;AK312320;AL079283;AL732366;AL832930;AMYH01022134;BC000793;BC047573;BC067851;BC110421;BM467724;BT007064;CH471074;L18960;NM_001412 AAA19812;AAH00793;AAH67851;AAP35727;ACE86655;ACE87337;BAG35242;EAW98972;EAW98973;NP_001403;P47813 Hs.522590 1666838;1676063;1682019;1791199;2133611;2133613;2153154;2179872;2187405;5024264 228D12_T7;A006C12;D1S3346;G20695;G34989;RH18177;RH38723;RH64553;SHGC-74291;WI-7823 EIF1A;EIF1AP1;EIF4C;eIF-1A;eIF-4C OTTHUMP00000024300;OTTHUMP00000024301;Putative eukaryotic translation initiation factor 1A;eIF-1A X isoform;eukaryotic translation initiation factor 1A, X chromosome;eukaryotic translation initiation factor 1A, X-chromosomal;eukaryotic translation initiation factor 4C APPROVED protein-coding ENSG00000173674 3250 02174 300186 REVIEWED 1343052 EIF1AY eukaryotic translation initiation factor 1A, Y-linked This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Y Y Y q11.223 7444560 7461989 + 21146999 21164428 + 22737611 22755040 + 1580863;6480464 12569173;18029348;16713569;15489334;15252450;14660691;12815422;12477932;9381176;21145461;19605777;21139048;21906983;10747295;15064832;15342556;15613541;16936303;20031959;20823116;21890473;22158087;22365286;23000965;22505724 9086 A6NJH9;O14602 ABBA01057456;AC007678;AF000987;AK127664;BC005248;BF694967;BG499107;BP331805;BT007201;CH471208;DQ786267;NM_001278612;NM_004681 AAC51834;AAH05248;AAP35865;ABM84662;ABM92193;EAX11716;NP_001265541;NP_004672;O14602 Hs.461178 1684198;1754451;1795752;2113588;2118200;2135839;2188853;2190453;2190455;2190457;2190459;2190461;2190463;5017997;5022843;5095245;5095247;5095249;5095251;5116886 EIF1AY-2;EIF1AY-3;EIF1AY-4;EIF1AY-5;EIF1AY-6;EIF1AY-7;EIF1AY_323;G34991;G65860;M272;M273;M274_M275;M276_M267_M277;M292;M293_M294_M295_M296;RH38676;SHGC-132587;SHGC-36325;sY1233;sY690 eIF-4C OTTHUMP00000034700;OTTHUMP00000034701;eIF-1A Y isoform;eIF-4C;eukaryotic translation initiation factor 1A, Y chromosome;eukaryotic translation initiation factor 1A, Y-chromosomal;eukaryotic translation initiation factor 4C APPROVED protein-coding ENSG00000198692 3252 02455 400014 REVIEWED 6480985 EIF2AP1 eukaryotic translation initiation factor 2A pseudogene 1 7 150181147 150182232 - 100874393 AACC02000108;ABBA01035185;AC073111;AMYH01018140;NG_032308 pseudo 39495 INFERRED 6480982 EIF2AP2 eukaryotic translation initiation factor 2A pseudogene 2 7 150300667 150301736 - 100874394 AC069304;AMYH01018140;NG_032309 pseudo 39496 INFERRED 6480987 EIF2AP3 eukaryotic translation initiation factor 2A pseudogene 3 7 150373921 150375006 - 100874395 AACC02000108;ABBA01035178;AC069304;AMYH01018140;NG_032310 pseudo 39497 INFERRED 6480989 EIF2AP4 eukaryotic translation initiation factor 2A pseudogene 4 10 45301891 45303671 + 100874401 ABBA01050023;AL139119;AMYH01002296;NG_032311 pseudo 39498 INFERRED 1601885 EIF1B eukaryotic translation initiation factor 1B 3 3 3 p22.1 40293858 40296600 + 40326177 40328919 + 40351173 40353915 + 6480464 17353931;7904817;15489334;12477932;10931946;8125298;22939629;19322201;21139048;21906983;22053931 10289 O60739;Q6FG85 AA521449;ABBA01024796;AC104186;AF064607;AF077052;AF263452;AK223448;AK311922;AMYH01013101;BC006996;BF667107;CA335728;CH471055;CR542223;NM_005875 AAC17112;AAD27785;AAF79182;AAH06996;BAD97168;BAG34863;CAG47019;EAW64598;EAW64599;NP_005866;O60739 Hs.315230 1797120;2112612;2133482;5017736;5491232 D3S4367;EIF1B;GC20;MARC_2151-2152:991932527:1;SHGC-76854 GC20 OTTHUMP00000162077;eukaryotic translation initiation factor 1b;protein translation factor SUI1 homolog GC20;translation factor sui1 homolog protein-coding ENSG00000114784 30792 17032 VALIDATED 1605026 EIF2A eukaryotic translation initiation factor 2A, 65kDa EIF2A is a 65-kD protein that catalyzes the formation of puromycin-sensitive 80S preinitiation complexes (Zoll et al., 2002 [PubMed 12133843]).[supplied by OMIM, Mar 2008] 3 3 q25.1 151747264 151786493 + 150264574 150303803 + 6480464;6484113 17407708;12133843;19223463;19190324;19131336;18794359;18287093;18195013;18063576;17894550;17715234;17553788;16928686;16870703;16717090;16631606;16373505;15718232;14702039;12477932;1620067;15781241;12687390;12370288;15345721;15341733;15961545;15475356;19913121;20519500;20628086;19586904;19605483;19744687;21090173;21085474;20376341;18337511;22863883;23046979;21203563;22948139;22915583;21832049;22939629;21730287;20434207;18274552;21622569;17274640;18816594;20706999;21963094;23000965;23471998;21139048;21906983;22505724 83939 B4DF96;B4DQ14;C9IZE1;F8WAE5;F8WAT3;F8WF18;H7C5Q3;H7C5Q4;H7C5R5;Q9BY44 ABBA01058925;ABBA01058926;AC107426;AF109358;AF172818;AF212241;AF497978;AI560242;AK027356;AK293993;AK298586;AL833101;AMYH01013574;BC011885;BX647951;CH471052;NM_032025 AAH11885;AAK14926;AAM83402;AAQ13506;AAQ13612;ABM87787;ABW03863;BAB55058;BAG57357;BAG60776;EAW78830;EAW78831;EAW78832;NP_114414;Q9BY44 Hs.655782 1665063;2116107;2132000;2150266;2161992;2169523;2170068;2217300;5092980 A009D27;EIF2a_2918;G32449;RH48541;SHGC-77450;STS-N73885;STS-T69826;WI-11937;WI-14136 CDA02;EIF-2A;MST089;MSTP004;MSTP089 65 kDa eukaryotic translation initiation factor 2A;OTTHUMP00000216446;OTTHUMP00000216447;OTTHUMP00000216448;OTTHUMP00000216449;eukaryotic translation initiation factor 2A APPROVED protein-coding 3254 11739 609234 VALIDATED 1354090 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Jan 2010] 2 2 p12 88637374 88708109 - 88856259 88927094 - 1601017;1580863;734923;6480464;6907045;7240710 15483661;10932183 19029953;10026192;10677345;11907036;12086964;21518408;18787411;18664456;18451152;18426796;18216498;18063576;17823375;17785458;17229688;16344560;16148948;15650164;15489334;15220213;15146197;14517290;12610133;12477932;12446838;12446770;12370288;12014989;11555640;10575235;9819435;8099443;1677563;20371724;21419175;15234121;16720581;22246806;21685912;10542257;10848580;16288713;19061639;19586904;19816510;19837917;20072656;20103619;20379614;19913121;20463975;20628086;20709135;20348950;20800603;23103912;22917505;22813743;21648287;21385877;22915762;22956602;16147992;21709020;22028037;22354021;20202148;23471998;22795130;22446326;22169477;22253692;22072062;20881960;23110043;19009018;20457808;21464971 9451 B3KY45;C9J185;E7ER02;Q9NZJ5 ABBA01018817;ABBA01018818;ABBA01018819;ABBA01018820;AC062029;AC104134;AF110146;AF193339;AF284604;AF284605;AF284606;AF284607;AF284608;AF284609;AF284610;AF284611;AF284612;AF284613;AF284614;AF284615;AI650734;AK128659;AK308312;AK315287;AMYH01010629;BC126354;BC126356;BQ014181;CH471215;CN285475;CR749382;DA990609;DB287944;NG_016424;NM_004836 AAD19961;AAF61199;AAF91480;AAI26355;AAI26357;AAY14777;AAY24331;BAG37696;BAG54707;CAH18234;EAW77068;EAW77069;NP_004827;Q9NZJ5 Hs.591589 1681111;1689187;1701262;1783992;2179073 D2S1994;RH104259;RH46266;RH91182;SHGC-142459 DKFZp781H1925;HRI;PEK;PERK;WRS OTTHUMP00000207186;OTTHUMP00000207187;OTTHUMP00000207188;PRKR-like endoplasmic reticulum kinase;eukaryotic translation initiation factor 2 alpha kinase 3;eukaryotic translation initiation factor 2-alpha kinase 3;heme-regulated EIF2-alpha kinase;hsPEK;pancreatic EIF2-alpha kinase APPROVED protein-coding ENSG00000172071 3255 04942 226980;604032 REVIEWED 1354333 EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 7 7 p22 6029988 6065302 - 6061878 6098860 - 1580863;6480464;6907045 11036079;19133234;17081983;16381901;15489336;15489334;14702039;12853948;12767237;12690205;12477932;12391722;11256614;11230166;11101152;11076863;10931946;10718198;7709427;10542257;1677563;19851296;20071449;20198315;9819435;22990118;21139048;21906983;23357686;21963094;22939624;23392680 27102 B4DIP4;C9J7U7;F8WCM0;H7C033;Q9P2H8 AACC02000121;AB037790;ABBA01029367;ABBA01029368;ABBA01029369;AC004895;AC005995;AF085994;AF100784;AF116634;AF147094;AF183414;AF255050;AK075192;AK290327;AK295712;AL136563;AL834494;AMYH01017030;AMYH01017031;BC006524;CH236963;CH878731;DC341983;NM_001134335;NM_014413 AAF66736;AAF70289;AAF71057;AAG09683;AAH06524;AAP97223;AAS00388;BAA92607;BAC11461;BAF83016;BAG58556;CAB66498;CAD39152;CAL37526;CAL38154;EAL23714;EAW55049;EAW55050;EAW55051;NP_001127807;NP_055228;Q9BQI3 Hs.520205 1646772;1712220;1722613;2117616;2145597;2159210;2164744 D7S2761;G54017;G60390;GDB:4585095;RH12212;SHGC-30897;SHGC-37403 HCR;HRI;KIAA1369 OTTHUMP00000115857;eukaryotic translation initiation factor 2-alpha kinase 1;heme regulated initiation factor 2 alpha kinase;heme sensitive initiation factor 2a kinase;heme-controlled repressor;heme-regulated eukaryotic initiation factor eIF-2-alpha kinase;heme-regulated inhibitor;heme-regulated initiation factor 2-alpha kinase;heme-regulated repressor;hemin-sensitive initiation factor 2-alpha kinase APPROVED protein-coding ENSG00000086232 24921 10684 613635 REVIEWED 1322904 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 EIF2AK4 belongs to a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2S1; MIM 603907) to downregulate protein synthesis in response to varied cellular stresses (Berlanga et al., 1999 [PubMed 10504407]).[supplied by OMIM, Mar 2008] 15 15 15 q15.1 16989625 17091096 + 38013639 38115089 + 40226347 40327797 + 1580863;6480464;6907045 10504407;18287093;17192257;17081983;15761153;15489334;14702039;14671302;12477932;10718198;22435535;19586904;19615732;20473272;20551969;20168091;23216249;21203563;15892049;21113813;22327514;21139048;17620599;23110064;22969067;22896630 440275 H0YME5;H0YND8;H0YNY9;Q9UJ56 AB037759;ABBA01038464;ABBA01038465;ABBA01038466;ABBA01038467;AC012377;AC025168;AJ243428;AK027011;AK074361;AL137627;AL137676;AL157497;AL832907;AMYH01006557;AY418110;BC009350;BC014915;BC019914;BC061591;BC078179;BX640919;BX649048;CH471125;NM_001013703 AAH09350;AAH78179;AAI46320;BAA92576;BAB15625;CAB58360;CAB70849;CAB75678;CAH10626;EAW92388;NP_001013725;Q9P2K8 Hs.656673 1341970;2119435;2130692;2145497 A004I33;D8S554;RH17797;STS-N75547 GCN2;KIAA1338 GCN2 eIF2alpha kinase;GCN2-like protein;eukaryotic translation initiation factor 2-alpha kinase 4 APPROVED protein-coding ENSG00000128829 19687 18447 609280 VALIDATED 6481286 EIF2B5-AS1 EIF2B5 antisense RNA 1 100874079 AC112643 APPROVED miscrna 40209 6481043 EIF2B5-IT1 EIF2B5 intronic transcript 1 (non-protein coding) 100874328 AC128714 miscrna 41330 1345835 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 p22-p21 37187203 37237572 - 37332281 37384190 - 2301741;6480464;6484113;6907045 12675919 16288713;17318221;10648614;1351683;10866685;8576172;17353931;19507191;19445956;19434718;19416861;19353519;19259124;19229320;19189853;19151623;19109397;19028691;19023099;19004947;18976633;18957415;18936160;18927075;18835251;18728014;18684960;18684815;18599499;18496558;18426922;18087277;18063576;18048689;18023289;17977969;17975119;17959656;17928446;17928244;17851256;17785458;17716668;17686861;17612505;17597457;17596833;17541283;17522227;17451862;17420072;14638359;13678666;12944978;12882984;12679338;12665801;12609980;12539042;12483527;12477932;12473108;12447867;12397061;12396729;12368348;12368306;12349906;12231563;12138106;12060652;12055262;12051728;11991642;11985496;11921349;11555640;11526399;11447118;11438540;11438536;11438532;11350938;11337501;11278865;11152499;11123929;10884347;10848580;10747897;10723127;10684936;17307214;17290288;17284445;17202131;16989899;16954686;16924232;16861808;16861340;16785445;16580685;16466763;16446363;16373505;16339759;16271080;16156900;15907845;15880455;15815621;15737233;15635413;15625311;15607693;15596837;15535414;15489334;15299030;15207627;15122791;15121867;14961569;14765129;14698665;10557102;10542257;10400814;10400669;10390359;10348343;10330179;10320367;9819435;9781815;9736623;9735304;9726442;9721103;9687506;9528799;9214631;9143277;9135145;9079663;8921913;8887659;8812437;8601309;8099444;7757816;7738010;7686884;7686883;7568151;7491766;2180064;1708818;1695551;1677563;1373554;1373553;9447982;11468270;10620360;18362360;22473766;22306812;19210572;21072047;20485506;20587610;20588308;20628624;21526770;11238927;16216244;19349624;19515768;19605474;19605483;19642004;19710021;19733181;19744687;19776135;19812373;19846517;19846675;20006836;20006840;20171114;20331378;20353946;21123651;19106640;20395957;20447405;21048031;20685959;20181660;19364808;21377708;21385567;21123378;21029237;21338484;21698289;20309637;22896602;22939629;20930042;22948139;11836380;8889548;21468538;21715487;21710204;22102852;21882225;22278235;22281122;22318606;21139048;21504114;21846836;21890473;21903422;21906983;22022264;23370317;22174754;22381929;21907836;16009940;19322201;23302873;15229216;19840259;23064357;21145461;22801494;23115276;23115300;23372823;23455922;22939624;23151878;23229543;23399035;22894766;18991615;19651874;21294215;21464971;22190034;22647704;22787234;22912486;22986343;16957780;23314571;21790829;23084476;23148689 5610 C9JZT2;F8WBH4;P19525;Q8IW76 ABBA01074973;ABBA01074974;ABBA01074975;ABBA01074976;ABBA01074977;AC007899;AF086566;AF167472;AI360504;AK290655;AK313818;AMYH01010259;AY228338;AY302136;BC007769;BC022314;BC040851;BC057805;BC093676;BC101475;BC143228;BC143230;BM473760;BU687340;CH471053;F03305;M35663;M85294;NG_030351;NM_001135651;NM_001135652;NM_002759;U50648 AAA18253;AAA36409;AAC50768;AAF13156;AAH07769;AAH22314;AAH40851;AAH57805;AAH93676;AAI01476;AAI43231;AAO38055;AAP57628;AAY24317;BAF83344;BAG36554;EAX00406;EAX00407;EAX00408;EAX00409;NP_001129123;NP_001129124;NP_002750;P19525 Hs.131431 1664827;1691324;1699900;1789977;1794736;1798022;2141442;2173437;5015861;7185938 D10S16;PMC355900P1;PRKR_2017;RH103558;RH69133;RH93202;SGC31475;STS-U50648;csnpprkr-pcr12-1 EIF2AK1;MGC126524;PKR;PRKR OTTHUMP00000126954;OTTHUMP00000201320;P1/eIF-2A protein kinase;double stranded RNA activated protein kinase;eIF-2A protein kinase 2;interferon-induced, double-stranded RNA-activated protein kinase;interferon-inducible RNA-dependent protein kinase;interferon-inducible elF2alpha kinase;p68 kinase;protein kinase RNA-activated;protein kinase, interferon-inducible double stranded RNA dependent;tyrosine-protein kinase EIF2AK2 APPROVED protein-coding 9437 01468 176871 REVIEWED 731256 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011] 14 14 q24.3 74539365 74546045 + 75469612 75476294 + 734925;1580863;6480464;7240710 11704758 8619474;11323413;15054402;15060152;16289705;8626696;15776425;14566705;15217090;15507143;12499492;18029348;18632786;17878805;16225457;15489334;14993275;12707859;12508121;12477932;11959995;10858531;10805739;9446619;9110174;8887689;7596406;16169070;20734064;19913121;20628086;18263758;20301435;22863883;21832049;22939629;20434207;21795329;21988832;23000965;21139048;21890473;22285377;22053931 8892 G3V5E5;H0YJJ8;H0YK01;P49770;Q53XC2 ABBA01030708;AC006530;AF035280;AI265790;AL049780;AMYH01005857;BC000494;BC003165;BC011750;BI908906;BX161473;CH471061;L40395;NG_013333;NM_014239 AAB88176;AAC42002;AAD30183;AAH00494;AAH03165;AAH11750;ABM82290;ABM85470;CAD61929;EAW81210;NP_055054;P49770 Hs.409137 1657348;1712216;2174318;2217292 EIF2B2_3126;G54015;RH46952;RH69052 EIF-2Bbeta;EIF2B OTTHUMP00000246789;S20I15;S20III15;eIF-2B GDP-GTP exchange factor subunit beta;eukaryotic translation initiation factor 2b, subunit 2 (beta, 39kd);translation initiation factor eIF-2B subunit beta APPROVED protein-coding ENSG00000119718 3258 05923 603896;606454 REVIEWED 733321 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009] 12 12 q24.31 122671523 122684200 - 124105570 124118323 - 734924;1580863;6480464;7240710 11835386 18632786;11323413;9235896;17353931;16289705;8626696;15217090;12499492;15060152;18330844;18263758;16169070;15776425;15752756;15489334;14993275;14566705;12707859;12477932;10858531;10805739;9446619;8887689;7495858;1883206;19913121;20628086;16344560;19631657;20301435;20434207;21795329;20368287;21139048;21890473;21906983 1967 B4DGX0;F5H0D0;H0YGG4;J3KMX9;Q14232 ABBA01060396;ABBA01060397;AC117503;AI540796;AK294815;AL541292;AMYH01004841;BC103763;BC104188;BC104189;CH471054;CR456831;DA221985;DA879094;NG_015862;NM_001414;X95648 AAI03764;AAI04189;AAI04190;BAG57931;CAA64950;CAG33112;EAW98424;EAW98425;NP_001405;Q14232 Hs.741273 1673118;1694768;1722053;1736194;1797494;1851555;1851557;2118907 A006F32;D12S1138E;EIF2B1_615;G20768;G43592;G59913;STS-N26791;WI-12310 EIF-2B;EIF-2Balpha;EIF2B;EIF2BA;MGC117409;MGC125868;MGC125869 OTTHUMP00000239201;OTTHUMP00000239202;OTTHUMP00000239203;eIF-2B GDP-GTP exchange factor subunit alpha;translation initiation factor eIF-2B subunit alpha;translation initiation factor eif-2b alpha-subunit APPROVED protein-coding ENSG00000111361 3257 09458 603896;606686 REVIEWED 1349546 EIF2S2P1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 1 14 14 14 q23.2 44252054 44253598 + 63271046 63272790 + 64201393 64202937 + 319115 ABBA01018335;AL161670;AMYH01005793;NG_002496 2134770 RH35846 EIF2S2P APPROVED pseudo 20009 INFERRED 1343874 EIF2S2P2 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 2 3 3 3 q27.2 183409316 183410717 - 186445547 186447122 - 184962954 184964355 - 347673 ABBA01058425;AC007934;AC128680;AMYH01013727;NG_002696;NG_015999 bcm2636 APPROVED pseudo 24654 VALIDATED 1352428 EIF2S2P3 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 3 10 q23.33 94428213 94429604 - 283014;414262 ABBA01021895;AL590080;AMYH01002950;NG_005657 APPROVED pseudo 31664 INFERRED 2800935 EIF2S2P4 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 4 2 2 2 q31.1 165224913 165226282 + 171316356 171317950 + 171608219 171609588 + 728350 ABBA01014917;AC007405;AMYH01011257;CH471058;NG_005660 EAX11237 pseudo 37626 INFERRED 4108858 EIF2S2P5 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 5 1 1 1 p13.1 113239966 113241492 + 114812263 114813789 + 115010740 115012266 + 347675 ABBA01068463;AL390241;AMYH01000966;NG_002698;NG_023287 pseudo 37793 INFERRED 3231911 EIF2S2P6 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 6 11 11 11 q14.1 79849185 79858154 + 82216961 82225932 + 82539313 82548284 + 100129629 ABBA01017369;AP001646;NG_022982 2157741;2181662 D11S2617;D11S4568 pseudo 37794 INFERRED 2881249 EIF2S2P7 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 7 2 2 2 p16.1 57115897 57116881 - 57128988 57134171 - 57275487 57276471 - 647016 ABBA01075290;AC010738;AMYH01010368;NG_021500 pseudo 37795 INFERRED 1322883 EIF2D eukaryotic translation initiation factor 2D This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q32.1 180016423 180037351 - 204831597 204852527 - 206764974 206785904 - 1580863 7299841;17353931;2482295;15302935;14702039;12477932;12097419;8125298;7085778;20566627;21145461;22939629 1939 Q5SY38;Q9NZ21 AB209364;ABBA01010191;AC244034;AF159586;AF220417;AF262403;AK001852;AK225259;AK294536;AL162001;AL591846;AMYH01001676;BC001585;BC039134;BC058905;BI465059;CH471100;DC399556;NM_001201478;NM_006893 AAD41909;AAF34185;AAF74205;AAH01585;AAH39134;AAH58905;ABM82516;ABM85710;BAA91942;BAD92601;BAG57743;CAB82330;EAW93536;EAW93537;EAW93538;EAW93539;EAW93540;NP_001188407;NP_008824;P41214 Hs.497581 1709968;5022578;5112325;5123016 D1S1423;RH103413;SHGC-76248;SHGC-82252 HCA56;LGTN Hepatocellular carcinoma-associated antigen 56;OTTHUMP00000034537;OTTHUMP00000034538;eukaryotic translation initiation factor 2D;ligatin APPROVED protein-coding ENSG00000143486 6583 01057 151625;613709 REVIEWED 733707 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p23.3 27440723 27446828 - 27587219 27593324 - 632563;734924;1580863;6480464;7240710 8929216;11835386 18263758;11323413;15054402;16289705;8626696;14566705;15217090;15507143;12556349;12499492;15060152;18632786;18539998;18330844;18160716;18061208;18005052;16288713;15489334;12707859;12477932;10931946;10858531;10805739;9446619;8887689;7982969;21503715;20709751;20734064;20532202;19158808;20016818;20301435;22737209;22939629;20434207;23000965;21139048;21890473;21906983;23382691;22505724 8890 E7ERK9;F8W8L6;F8WEV6;H7C2L8;Q9UI10 AB209532;ABBA01045203;AC074117;AF057699;AF086520;AF112207;AF218009;AJ011305;AJ011306;AJ011307;AK300734;AL050109;AMYH01010195;BC001870;BC091502;CH471053;JQ991007;NG_009305;NM_001034116;NM_015636;NM_172195 AAF17195;AAG17251;AAH01870;AAH91502;AAQ13438;AAY14843;AFM43698;BAD92769;BAG62407;CAB43277;CAB57260;CAB57261;CAB57304;CAB57305;EAX00587;EAX00588;EAX00589;EAX00590;EAX00591;EAX00592;NP_001029288;NP_056451;NP_751945;Q9UI10 Hs.169474 1778471;2110125;2110127;2110129;2110131;2110133;2110135;2110137;2110139;2110141;2110143;2110145;2110147;2110149;2110151;2110155 RSA000499813;RSA000499820;RSA000762160;RSA000987699;RSA000987702;RSA000987708;RSA000987715;RSA000987719;RSA000999044;RSA001081057;RSA001259893;RSA001334633;RSA001337772;RSA001357115;RSA001364720;WI-12589 DKFZp586J0119;EIF-2B;EIF2B;EIF2Bdelta OTTHUMP00000200797;OTTHUMP00000200800;OTTHUMP00000225846;OTTHUMP00000225847;eIF-2B GDP-GTP exchange factor subunit delta;eukaryotic translation initiation factor 2B subunit 4 delta;eukaryotic translation initiation factor 2b;translation initiation factor eIF-2B subunit delta;translation initiation factor eIF-2b delta subunit APPROVED protein-coding ENSG00000115211 3260 09459 603896;606687 REVIEWED 732190 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 p34.1 45089037 45224869 - 45316194 45452394 - 734924;1580863;6480464;7240710 11835386 11323413;15054402;15060152;10900014;16289705;8626696;15217090;12499492;18632786;18263758;16710414;16381901;16288713;15489336;15489334;14702039;12707859;12477932;11230166;11076863;10858531;10805739;16169070;17353931;10737800;16344560;20379614;8889549;20301435;22939629;22863883;21484434;22312164;21963094;23000965;21987572;21139048;21890473;21906983 8891 H0Y580;Q5QP88;Q9HA31;Q9NR50 ABBA01050896;ABBA01050897;ABBA01050898;ABBA01050899;ABBA01050900;ABBA01050901;ABBA01050902;ABBA01050903;ABBA01050904;ABBA01050905;AF257077;AK022399;AK024006;AK314668;AL136380;AL834288;AMYH01000568;AMYH01000569;AW972575;BC014234;BC018728;BC021017;BF879213;BQ776018;CH471059;CR457285;CX781577;DA141801;DA162797;NG_015864;NM_001166588;NM_001261418;NM_020365;W21485 AAF91351;AAH18728;BAB14027;BAB14770;BAG37225;CAD38962;CAG33566;CAL38485;CAL38657;EAX07011;EAX07012;EAX07013;EAX07014;EAX07015;EAX07016;NP_001160060;NP_001248347;NP_065098;Q9NR50 Hs.533549 1654620;1672390;1749819;2186005;5023434 AL009463;D1S2546;SHGC-111559;SHGC-57832;SHGC-74692 EIF-2B;EIF2Bgamma OTTHUMP00000010262;OTTHUMP00000010263;OTTHUMP00000010265;eIF-2B GDP-GTP exchange factor subunit gamma;eukaryotic translation initiation factor 2b, subunit 3 (gamma, 58kd);translation initiation factor eIF-2B subunit gamma APPROVED protein-coding ENSG00000070785 3259 09379 603896;606273 REVIEWED 731553 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009] 3 3 q27.1 185335504 185345793 + 183852810 183863099 + 734925;1580863;6480464;7240710 11704758 17646634;17439913;17081983;16097034;16041584;15489334;15302935;14993275;14702039;14572143;12707859;12477932;12325082;12133000;11500362;10858531;10805739;10441579;9468292;9446619;17353931;11323413;15054402;16289705;8688466;15723074;8626696;14566705;15217090;15507143;12499492;15060152;18632786;18565837;18562513;18294360;18263758;21503715;20975056;19913121;20628086;16730941;20734064;20301435;21307862;21832049;22939629;21890473;21906983;22472876;21204011 8893 C9JRD9;E9PC74;H7C2X0;Q13144 AB208821;ABBA01058458;ABBA01058459;AC131235;AK056400;AK091646;AK307347;AK310207;AL832179;AMYH01013710;BC013590;BC050476;BC053646;BI769147;CH471052;NG_015826;NM_003907;U23028 AAC50646;AAH13590;ABM82409;ABM85596;BAC03712;BAD92058;EAW78298;EAW78299;EAW78300;EAW78301;EAW78302;NP_003898;Q13144 Hs.283551 1338534;1340035;1649895;2148772;2217294 D3S3592;D3S3730;EIF2B5_2938;RH12776;STS-U23028 CACH;CLE;EIF-2B;EIF2Bepsilon;LVWM OTTHUMP00000210774;OTTHUMP00000210847;eIF-2B GDP-GTP exchange factor subunit epsilon;initiation factor eif-2be;translation initiation factor eIF-2B subunit epsilon APPROVED protein-coding ENSG00000145191 3261 04898 603896;603945 REVIEWED 735608 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010] 14 14 q23.3 66896787 66922986 + 67827034 67853233 + 728211;1580863;6480464;6907045 2948954 21787283;11500362;16289705;1104615;12588972;11323413;19244104;19189853;19188486;19017641;18664456;18639529;18604219;18234281;18082745;17488873;17393484;17210633;17113348;16982605;16500424;16418533;16289913;16288713;16216881;16210351;15650164;15635413;15489334;15476887;15341733;15330758;15207627;15060162;14747531;12687390;12686399;12601012;12556489;12514125;12499843;12477932;12447867;12370288;12186496;11985496;11859078;11739746;11555640;11331597;10734073;10648795;10620360;10542257;10504407;10432301;9819435;9446619;9442054;9079663;8887689;8645159;8099444;8099443;8098621;7821789;2116318;1883206;19364808;21385877;22306812;1748310;1677563;1400363;17353931;20521618;17274640;17361185;19369421;19470760;19559055;19733181;19754954;19800319;19846675;20154146;17894550;20428777;20660158;17290288;21556050;22863883;22939629;20361218;22833567;21715487;21699776;18457437;18781797;21139048;21890473;21906983;21963094;21987572;22053000;21907836;22145905;19322201;21575865;21628590;22652449;22102852;16720581;21145461;22705549;18423202;19738201;20467438;22113938;22623428;23000965;23293029;19009018;20457808;21853274;22053931 1965 G3V4T5;H0YJS4;P05198;Q53XC0 ABBA01023713;AK297244;AK312442;AL139785;AMYH01005813;BC002513;BX161521;CH471061;D28379;J02645;NM_004094;U26032 AAA52373;AAH02513;ABM83077;ABM86273;BAA05745;BAG35351;BAG59724;CAD61953;EAW80933;EAW80934;NP_004085;P05198 Hs.151777 1668637;1690396;1744205;1851903;2133001;2153031;2160134 D14S1214;D14S1305;GDB:437525;HUM0C12G05;RH68960;RH91349;WI-19765 EIF-2;EIF-2A;EIF-2alpha;EIF2;EIF2A OTTHUMP00000028404;OTTHUMP00000218025;OTTHUMP00000245572;OTTHUMP00000245573;eIF-2-alpha;eukaryotic translation initiation factor 2 subunit 1;eukaryotic translation initiation factor 2 subunit alpha;eukaryotic translation initiation factor 2, subunit 1 (alpha ) APPROVED protein-coding ENSG00000134001 3265 04881 603907 VALIDATED 1343864 EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. [provided by RefSeq, Jul 2008] 20 20 q11.2 32139776 32163746 - 32676115 32700085 - 1580863;6480464 3044606;16288713;16289705;1104615;12588972;18639529;17081983;16169070;15635413;15489334;12901717;12477932;11959995;11780052;11739746;11092890;10805739;10805737;10648795;10620360;9933616;9446619;9442054;9395514;9079663;8024572;21145461;16932749;21832049;22939629;18781797;22863883;22990118;20434207;20000738;20972266;21139048;21890473;21906983;21907836;21628590;22813744;18423202;22113938;22678362;22976474;23000965;22174317 8894 P20042;Q6IBR8 AB208966;AB451237;AB451362;ABBA01019211;ABBA01019212;AF076927;AK313025;AL031668;AMYH01011861;BC000461;BC000934;BC007888;BC070316;BC107588;BT009795;BX648379;CH471077;CR456734;M29536;NM_003908 AAA52383;AAD19864;AAH00461;AAH00934;AAH07888;AAI07589;AAP88797;ABM81931;ABM85110;BAD92203;BAG35860;BAG70051;BAG70176;CAG33015;EAW76284;EAW76285;EAW76286;NP_003899;P20042 Hs.429180 1646666;1647933;1773598;1777108;1778569;2134770;2140602;2164392;2217298;5016721;5097047 D20S1129;D20S573E;D20S773;EIF2S2_2748;G62049;RH11633;RH12277;RH35846;RH36346;RH47979;SHGC-12418 DKFZp686L18198;EIF2;EIF2B;EIF2beta;MGC8508;PPP1R67;eIF-2-beta OTTHUMP00000030680;eIF-2-beta;eukaryotic initiation factor 2-beta;eukaryotic translation initiation factor 2 beta;eukaryotic translation initiation factor 2 subunit 2;eukaryotic translation initiation factor 2 subunit beta;protein phosphatase 1, regulatory subunit 67 APPROVED protein-coding ENSG00000125977 3266 04882 603908 REVIEWED 1346365 EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010] X X p22.2-p22.1 23982986 24006848 + 24073065 24096927 + 1580863;6480464 15669143;8106381;16288713;17220478;17353931;10900014;16289705;1104615;12588972;16201836;15635413;15489334;12665801;12477932;10648795;10620360;9736774;9079663;8125298;8098621;21145461;21319273;19723899;16712791;22863883;22939629;16196087;20434207;21252943;21110914;18781797;21139048;21693764;21890473;21906983;21987572;21907836;22145905;19322201;21628590;21853274;22174317;22505724;22797925;22952844;23063529 1968 H7BZU1;P41091 AB451230;AB451353;ABBA01072278;ABBA01072279;ABBA01072280;ABBA01072281;AC079169;AF274932;AI133612;AJ006932;AK222577;AK290397;AK312247;AMYH01022160;AMYH01022161;BC011945;BC019906;BF435665;CB150474;CH471074;L19161;NG_016387;NM_001415 AAA19696;AAH19906;ABM82720;ABM85903;BAD96297;BAF83086;BAG35179;BAG70044;BAG70167;CAA07331;EAW99010;EAW99011;EAW99012;NP_001406;P41091 Hs.539684 1851872;2128829;2170408;2218530;5017170;5019823;5037552;5106106;5109362 A009Y29;D12S1830;D17S1239;D8S2279;EIF2S3;EIF2S3_1860;G32988;L29953;RH17627 EIF2;EIF2G;EIF2gamma;eIF-2gA OTTHUMP00000023076;eIF-2-gamma X;eIF-2gX;eukaryotic translation initiation factor 2 subunit 3;eukaryotic translation initiation factor 2 subunit gamma X;eukaryotic translation initiation factor 2G APPROVED protein-coding 3267 02155 300161 REVIEWED 1346432 EIF3EP1 eukaryotic translation initiation factor 3, subunit E pseudogene 1 6 6 6 q13 74396202 74397681 + 74058286 74059953 + 74001659 74003138 + 9847074;9403073 3647 ABBA01040310;AC019205;AMYH01016425;NG_001023 1666974;1812602;1820570;1823370;1831840;1855756;1855758;1922870;1922872;1922874;1922876;1922878;1922880;1922882;1922884;1922886;1922888;1922890;1922892;1922894;1922896;1922898;2159494;2172145;2172147;2183855 A002C29;A005C09;D6S1876;ECD07311;ECD11360;ECD12775;ECD17058;G19931;G20265;REN32259;REN32260;REN32261;REN32262;REN32263;REN32264;REN32265;REN32266;REN32267;REN32268;REN32269;REN32270;REN32271;REN32272;REN32273;RH44515;WI-15927 EIF3EP;EIF3S6P1;INT6P1 APPROVED pseudo 6102 INFERRED 3362169 EIF3EP2 eukaryotic translation initiation factor 3, subunit E pseudogene 2 2 2 2 q24.2 156555071 156557088 + 162653015 162655032 + 162944769 162946786 + 100132597 ABBA01004891;AC008063;AMYH01011214;NG_023025 pseudo 37919 INFERRED 1316362 EIF3A eukaryotic translation initiation factor 3, subunit A 10 10 q26 120784531 120830324 - 120794541 120840334 - 1580863;6480464 16582619;17403899;19245811;21319273;18502210;11169732;17353931;18423202;9150439;9054404;12588972;18725400;18599441;18568671;17581632;17381544;16829125;16497727;15946946;14519125;12878157;12477932;12124384;11384103;11102443;10611228;10444591;9925932;9822659;9804427;9790534;8995410;8995409;8816444;8590280;2110361;16541103;11590142;9418880;12812986;20399188;16385451;17322308;18354498;19327350;19615732;20056645;20562859;20936779;19454010;20647036;22939629;20818067;21610145;23437357;18029348;20068067;20360068;21078624;21625209;21139048;21890473;21906983;21963094;22145905;9341143;23393223;12904573;17361185;22022972;18781797;22108332;22863883;18000879;18628297;19738201;22623428;23000965;23127338;23184937;22634302;23455922;23463506;23530232;22053931;22190034;22505724;22952844 8661 F5H335;Q14152 ABBA01062919;ABBA01062920;ABBA01062921;AK302575;AK307610;AK309542;AL355598;AMYH01003108;AMYH01003109;AMYH01003110;AU279600;BC020285;BC033769;BC054342;BC064926;BC107776;BC114429;CH471066;D50929;JX312508;NM_003750;U58046;U58047;U78311 AAB41584;AAB41586;AAB80695;AAH33769;AAH54342;AAH64926;AAI07777;AAI14430;AFR31791;BAA09488;BAG63833;EAW49408;NP_003741;Q14152 Hs.523299 1677214;1684090;1684505;1689628;1795754;2140070;2174982;2190537;5015861;5037552;5491726;7185938 D10S16;D10S2416;D8S2279;EIF3S10;EIF3S10_439;EST20A11;RH11315;RH25362;RH64952;RH98964;WI-14638 EIF3;EIF3S10;KIAA0139;P167;TIF32;eIF3-p170;eIF3-theta;p180;p185 EIF3, p180 subunit;OTTHUMP00000020589;centrosomin homolog;cytoplasmic protein p167;eIF-3-theta;eIF3 p167;eIF3 p180;eIF3 p185;eukaryotic translation initiation factor 3 subunit 10;eukaryotic translation initiation factor 3 subunit A;eukaryotic translation initiation factor 3, subunit 10 (theta, 150/170kD);eukaryotic translation initiation factor 3, subunit 10 (theta, 170kD);eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa;eukaryotic translation initiation factor 3, subunit 10, 170kD protein-coding ENSG00000107581 3271 03618 602039 VALIDATED 1626547 EIF3CL eukaryotic translation initiation factor 3, subunit C-like 16 16 p11.2 28298401 28322663 - 28390900 28415162 - 6480464 10504338;12588972;18669648;18599441;18187866;17581632;17468741;17322308;17287340;17081983;16964243;16766523;16322461;16286006;16097034;16083285;15703437;15489334;15302935;14702039;14519125;12477932;10493829;8995409;21145461;22863883;20360068;21987572;20972266;21890473;21906983;21963094;23000965;23463506;22505724 728689 B5ME19 ABBA01015960;AC138894;AMYH01007419;AMYH01007420;AMYH01007421;AMYH01007422;AMYH01007423;NM_001099661;XM_003960655 B5ME19;NP_001093131;XP_003960704 Hs.535464 1736558;1738647;1738823;2145041 D16S2553E;D16S2774;D16S2882;SGC31754 OTTHUMP00000122518;eIF3 p110;eIF3c;eukaryotic translation initiation factor 3 subunit 8;eukaryotic translation initiation factor 3 subunit C;eukaryotic translation initiation factor 3 subunit C-like protein;eukaryotic translation initiation factor 3, subunit 8, 110kDa-like protein-coding ENSG00000205609 26347 PROVISIONAL 3516294 EIF3EP4 eukaryotic translation initiation factor 3, subunit E pseudogene 4 3 3 180995908 180996955 - 182561361 182562408 - 100422200 ABBA01058491;AC069431;AMYH01013702;NG_022232 pseudo 37921 INFERRED 3051016 EIF3EP3 eukaryotic translation initiation factor 3, subunit E pseudogene 3 2 2 159040122 159040397 + 165430250 165430525 + 100462836 ABBA01004908;AC107075;AMYH01011223;NG_021590 1686498 RH27221 pseudo 37920 INFERRED 1344484 EIF3FP1 eukaryotic translation initiation factor 3, subunit F pseudogene 1 21 21 p11.2 10202549 10203788 - 11180762 11181817 - 10830953 54053 ABBA01159632;AMYH01012129;AP003900;NG_000925 1744293 GDB:451583 EIF3FP;EIF3S5P APPROVED pseudo 3276 INFERRED 1605321 EIF3FP2 eukaryotic translation initiation factor 3, subunit F pseudogene 2 13 p13 86946645 86947692 + 6480464 22318606 83880 Q9BX72 ABBA01048749;AL356585;NG_005632 IFP38 pseudo 28863 17134 INFERRED 3517377 EIF3FP3 eukaryotic translation initiation factor 3, subunit F pseudogene 3 2 2 2 p16.1 58321740 58322998 + 58332051 58338232 + 58478564 58479822 + 11181995;19615732 339799 ABBA01075308;AC007250;AMYH01010374;AMYH01010375;CH471053;NG_006949 EAX00053;EAX00054;EAX00055 pseudo 37625 INFERRED 1318894 EIF3C eukaryotic translation initiation factor 3, subunit C 16 16 p11.2 28630283 28654552 + 28699879 28747051 + 1580863;6480464 8995409;12588972;17081983;16964243;16341674;16097034;16083285;15489334;15302935;15231748;15146197;14702039;14519125;12514125;12477932;10504338;10493829;9822659;8995410;16169070;16189514;21209461;17403899;19245811;21145461;21319273;15946946;16286006;19615732;19915574;17322308;17581632;18599441;21102463;22863883;20508642;22939629;15047060;16196087;22016036;22318606;15840729;18781797;19850743;20360068;21081666;21900206;17361185;18628297;21628590;20972266;21890473;21906983;22145905;21963094;21987572;23000965;23128233;22190034;22505724 8663 H3BPE3;H3BPE4;H3BRV0;H3BTY8;Q99613 AA679705;ABBA01045690;AC002544;AC145285;AK000739;AK055366;AK130531;AK292155;AK293264;AK299421;AK301183;AK301233;AK303790;AK304500;AMYH01007452;AMYH01007453;AMYH01007454;AMYH01007455;AMYH01007456;AMYH01007457;AMYH01007458;AMYH01007459;AY762099;BC000533;BC001571;BC071705;BC107692;BC157842;BC157849;BE780094;BF665714;BM757468;BT007335;BX648075;CA420261;CH878380;CN410678;NM_001037808;NM_001199142;NM_001267574;NM_003752;U46025;U91326 AAC27426;AAC27674;AAD03462;AAH00533;AAH01571;AAH71705;AAI07693;AAI57843;AAI57850;AAP35999;AAX07826;ABM82558;ABM85748;BAA91352;BAF84844;BAG51506;BAG56795;BAG61402;BAG62767;BAG62805;BAG64747;BAG65308;EAW50492;EAW50493;EAW50494;EAW50495;EAW50496;NP_001032897;NP_001186071;NP_001254503;NP_003743;Q99613 Hs.567374 1736558;2145041;5016478;5024413 D16S2553E;GDB:434012;L17877;SGC31754 EIF3CL;EIF3S8;FLJ53378;FLJ54400;FLJ54404;FLJ55450;FLJ55750;FLJ78287;MGC189737;MGC189744;eIF3-p110 OTTHUMP00000125295;cell migration-inducing protein 17;eIF3 p110;eukaryotic translation initiation factor 3 subunit 8;eukaryotic translation initiation factor 3 subunit C;eukaryotic translation initiation factor 3, subunit 8 (110kD);eukaryotic translation initiation factor 3, subunit 8, 110kDa protein-coding ENSG00000184110 3279 04889 603916 VALIDATED 1319125 EIF3B eukaryotic translation initiation factor 3, subunit B 7 7 p22.3 2361000 2386906 + 2394474 2420380 + 1580863;6480464 17403899;19245811;11169732;14688252;8995410;12588972;17190833;17081983;15592455;15489334;15302935;14702039;14519125;12690205;12477932;11331597;9847074;9822659;9388245;8995409;8889548;7693677;16541103;16286006;15946946;17322308;17581632;18599441;19615732;20060839;16159877;19454010;20862284;23184937;20508642;22863883;22939629;22990118;15047060;16196087;17053147;21628590;18457437;18781797;20360068;21045808;21081666;21987572;20972266;21139048;21890473;21906983;22145905;18423202;19738201;19805454;21963094;22234522;22623428;23000965;22190034;22505724;18628297 8662 C9JQN7;C9JZG1;P55884 AACC02000053;AB209381;ABBA01039371;AC004840;AC004971;AI888128;AK093807;AK126670;AK300967;AK302058;AMYH01016969;BC001173;BC009986;BC110865;BG325094;BM556863;BQ015102;BQ045103;BQ070291;CH236953;CH471144;NM_001037283;NM_003751;U62583;U78525 AAB42010;AAC99479;AAH01173;AAH09986;AAI10866;AAP21880;BAD92618;BAG62591;BAG63448;EAL23951;EAL23952;EAW87237;EAW87238;EAW87239;EAW87240;EAW87241;NP_001032360;NP_003742;P55884 Hs.371001 1647552;1663073;1698058;1757733;1758553;1851480;2141181;2165879;5022651;5109663 A005U22;D11S2921;D7S2067E;GDB:1318627;RH102561;RH18310;RH78609;SHGC-146399;SHGC-148746;STS-N23233 EIF3-ETA;EIF3-P110;EIF3-P116;EIF3S9;MGC104664;MGC131875;PRT1 OTTHUMP00000024457;OTTHUMP00000115601;eIF-3-eta;eIF3 p110;eIF3 p116;eukaryotic translation initiation factor 3 subunit 9;eukaryotic translation initiation factor 3 subunit B;eukaryotic translation initiation factor 3, subunit 9 (eta, 116kD);eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa;hPrt1;prt1 homolog protein-coding ENSG00000106263 3280 06795 603917 VALIDATED 1626559 EIF3IP1 eukaryotic translation initiation factor 3, subunit I pseudogene 1 7 7 7 q31.1 104411914 104412900 - 109386520 109387506 - 109599284 109600270 - 442720 AACC02000004;ABBA01057878;AC004161;AMYH01017846;BM551412;CH236947;NR_003024 Hs.530096;Hs.535194 1779101;2139791 GDB:1318290;RH64484 RG208K23 pseudo ENSG00000237064 13277 PROVISIONAL 1352969 EIF3D eukaryotic translation initiation factor 3, subunit D Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 20709038 20727412 - 35236843 35255223 - 36906897 36925277 - 1580863;6480464 11369516;17353931;9341143;12588972;18571626;15592455;15489334;15461802;14519125;12477932;11590142;11331597;10591208;9822659;8995410;8995409;17403899;21145461;17322308;17474147;17581632;18599441;19615732;22939629;22863883;15047060;20171186;20360068;20890303;21900206;17361185;21628590;21139048;21890473;21906983;22145905;22586326;22190034;22505724;22944692 8664 B0QYA3;B0QYA4;B0QYA5;B0QYA6;B0QYA7;B0QYA8;B4DVY1;O15371 ABBA01055447;AK300199;AK301284;AK303884;AK312939;AL022313;AMYH01012753;AW575097;BC000328;BC000469;BC014912;BC080515;BC093100;BC093686;BC101477;BG718662;BT007381;CH471095;CR456489;NM_003753;U54558 AAD03466;AAH00328;AAH00469;AAH14912;AAH80515;AAH93100;AAH93686;AAI01478;AAP36045;ABM82055;ABM85234;BAG35781;BAG61970;BAG62843;BAG64820;CAG30375;CAK54480;CAK54779;EAW60109;EAW60110;NP_003744;O15371 Hs.55682 1666775;1716311;1748477;5023256;5126444;5491453 A002O22;MARC_13472-13473:1002304233:5;RH121185;SGC31879;SHGC-24001;SHGC-32716 EIF3S7;MGC126526;MGC17258;eIF3-p66;eIF3-zeta OTTHUMP00000197900;OTTHUMP00000197901;eIF-3-zeta;eIF3 p66;eukaryotic translation initiation factor 3 subunit 7;eukaryotic translation initiation factor 3 subunit D;eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa;translation initiation factor eIF3 p66 subunit APPROVED protein-coding ENSG00000100353 3278 04888 603915 REVIEWED 1323023 EIF3E eukaryotic translation initiation factor 3, subunit E 8 8 q22-q23 109283148 109330135 - 109213972 109260959 - 6480464;6484113;6907045 14667819;17220478;17324924;17353931;9295280;12588972;17516841;17468741;17310990;16766523;16189514;15867213;15592455;15558017;15489334;15231748;15030549;14702039;14519125;12553909;12477932;12386384;12220626;11590142;11121040;11118224;10644362;10504338;9822659;9403073;8995410;8995409;8688078;16169070;12435599;16343815;17322308;17581632;18599441;19615732;20453879;18029348;20890303;19454010;20462248;23106098;23184937;22863883;22939629;17314511;20434207;16045761;22586326;9733766;17623298;18781797;20360068;21139048;21693764;21890473;21906983;21987572;22553336;22532700;21732829;22508697;19471022;15862967;17403899;21319273;22053931;22190034;22505724;22797925 3646 E5RGA2;E5RHS5;E5RII3;E5RIP5;E5RIT4;E5RJ25;H0YAW4;H0YBP5;H0YBR5;P60228 ABBA01037703;ABBA01037704;AC087620;AK124178;AK310902;AK313186;AMYH01018956;AP001331;BC000734;BC005944;BC008419;BC016706;BC017887;BC021679;BG498300;CH471060;CR457029;CR542275;NM_001568;U54562;U62962;U85947;U94174;U94175 AAB58251;AAB88873;AAC51760;AAC51917;AAC51919;AAH00734;AAH08419;AAH16706;AAH17887;AAH21679;ABM83204;ABM86404;BAG36003;BAG54018;CAG33310;CAG47071;EAW91918;EAW91919;NP_001559;P60228 Hs.405590 1643656;1660309;1686498;1704706;1725097;1823370;1855756;1855758;1922886;1922888;2150417;2159494;2183855 A002C29;D6S1876;ECD12775;G19931;REN32267;REN32268;RH118844;RH27221;RH36368;RH44515;RH47662;SHGC-79010;STS-N21321 EIF3-P48;EIF3S6;INT6;eIF3-p46 OTTHUMP00000227726;OTTHUMP00000227727;eIF-3 p48;eukaryotic translation initiation factor 3 subunit 6;eukaryotic translation initiation factor 3 subunit E;eukaryotic translation initiation factor 3, subunit 6 (48kD);eukaryotic translation initiation factor 3, subunit 6 48kDa;mammary tumor-associated protein INT6;murine mammary tumor integration site 6 (oncogene homolog);viral integration site protein INT-6 homolog protein-coding ENSG00000104408 3277 03734 602210 VALIDATED 7244917 EIF3J-AS1 EIF3J antisense RNA 1 (head to head) 12477932 645212 ABBA01039205;AC009996;AMYH01006612;BC026043;BC066970;DB480720;NR_034170;NR_034171 AAH26043 Hs.594287 2171275;5015961 D15S1477;SHGC-30973 miscrna 48616 VALIDATED 6484049 EIF3KP1 eukaryotic translation initiation factor 3, subunit K pseudogene 1 5 q21.1 102368017 102368765 + 134505 ABBA01069149;AC010250;AMYH01015516;CH471086;NG_022888;NG_029444 EAW49082 1664656;1712228;1735484;2149350;2169593 D5S1604E;D5S2479;G54022;RH67974;STS-M37721 pseudo 44016 INFERRED 6484027 EIF3KP2 eukaryotic translation initiation factor 3, subunit K pseudogene 2 3 p24.2 24597322 24597950 + 100129045 ABBA01025027;AC012087;AMYH01013033;NG_022242 1724519;1736888;1749007;2112570 D3S266;D3S4343;RH122519;SHGC-110646 pseudo 44017 INFERRED 6484001 EIF3KP3 eukaryotic translation initiation factor 3, subunit K pseudogene 3 4 q26 116964530 116965280 - 645368 ABBA01063858;AC020701;AMYH01014477;NG_022029 pseudo 44018 INFERRED 1314535 EIF3F eukaryotic translation initiation factor 3, subunit F 11 11 p15.4 7965443 7974294 + 8008867 8017718 + 1580863;6480464 18599441;9341143;12588972;19245811;19237569;18724935;18381585;17918192;17353931;16537434;16189514;16169070;15862967;15489334;15231748;14702039;14519125;12477932;12446680;9822659;8995410;8995409;16286006;16541103;17403899;20800221;17207965;16712791;16159877;19454010;21124883;17322308;17581632;19615732;19854136;22863883;21832049;22939629;16196087;22457825;19073596;20360068;21081666;21139048;22145905;17361185;21628590;22190034;22505724;22797925 8665 B3KSH1;B4DEW9;E9PQV8;H0YDT6;O00303 ABBA01028684;AC116456;AK027739;AK093511;AK095574;AK289637;AK291354;AK293826;AK297621;AMYH01003373;BC000490;BC073753;BT006894;CB141463;CD050033;CH471064;CR456959;NM_003754;U94855 AAD03467;AAH00490;AAP35540;ABM81692;ADQ32743;BAC04577;BAF82326;BAF84043;BAG52733;BAG57230;BAG59997;CAG33240;EAW68637;NP_003745;O00303 Hs.516023 1685682;1744293;1851963;5117190 D11S1152;GDB:451583;GDB:451661;RH80696 EIF3S5;eIF3-p47 OTTHUMP00000230693;deubiquitinating enzyme eIF3f;eIF-3-epsilon;eIF3-epsilon;eukaryotic translation initiation factor 3 subunit F;eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD);eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa protein-coding ENSG00000175390 3275 04887 603914 VALIDATED 1350196 EIF3LP1 eukaryotic translation initiation factor 3, subunit L pseudogene 1 14 14 14 q31.1 62424193 62426059 + 81452222 81454255 + 82382544 82384402 + 319117 ABBA01030602;AL355838;AMYH01005909;NG_002498 EIF3EIPP1;EIF3S6IPP pseudo 20010 INFERRED 1352708 EIF3LP2 eukaryotic translation initiation factor 3, subunit L pseudogene 2 10 10 10 q11.21 39065551 39066541 + 42382030 42383213 + 43062124 43063114 + 143341 ABBA01049990;AL022345;AMYH01002282;NG_001544 1677602 RH40245 EIF3EIPP2;EIF3S6IPP2 pseudo 24657 INFERRED 7205143 EIF3LP3 eukaryotic translation initiation factor 3, subunit L pseudogene 3 10 p11.1 38368987 38369799 - 340947 ABBA01033288;AL117339;AMYH01002260;NG_022143 1665999 G27412 pseudo 44976 INFERRED 1316234 EIF3G eukaryotic translation initiation factor 3, subunit G 19 19 19 p13.2 10121181 10126038 - 10086690 10091599 - 10225690 10230599 - 1580863;6480464 17403899;21145461;14688252;15231747;17353931;9973622;12588972;17094969;16243297;15489334;15302935;14519125;12477932;10887144;9822659;8995410;8995409;8889549;16189514;20406461;17322308;17581632;18599441;19615732;22863883;21832049;22939629;22493286;9341143;19471022;20360068;21139048;21890473;21900206;21906983;17361185;18628297;21044950;21628590;22190034 8666 K7EL20;K7EL60;K7ENA8;K7ENH0;K7EP16;K7ER90;K7ERL8;O75821 AA134976;ABBA01029947;AC020931;AF020833;AF092453;AF094850;AK291320;AK293374;AK296377;AK309944;AK315896;AK316040;AK316335;AMYH01009467;BC000733;BC008469;BE017996;BF701069;BT006889;CH471106;CR457134;NM_003755;U96074 AAB71866;AAC78728;AAG15396;AAG15419;AAH00733;AAH08469;AAP35535;ABM87800;ABM92233;BAF84009;BAF98787;BAG59051;BAH11496;BAH14411;BAH14706;CAG33415;EAW84078;NP_003746;O75821 Hs.529059 1734626;5037552;5127747 D19S632E;D8S2279;RH78956 EIF3-P42;EIF3S4;eIF3-delta;eIF3-p44 eIF-3 RNA-binding subunit;eIF-3-delta;eIF3 p42;eIF3 p44;eukaryotic translation initiation factor 3 RNA-binding subunit;eukaryotic translation initiation factor 3 subunit 4;eukaryotic translation initiation factor 3 subunit G;eukaryotic translation initiation factor 3 subunit p42;eukaryotic translation initiation factor 3, subunit 4 (delta, 44kD);eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa protein-coding ENSG00000130811 3274 04886 603913 VALIDATED 1317118 EIF3J eukaryotic translation initiation factor 3, subunit J Eukaryotic initiation factor-3 (EIF3) has a molecular mass of about 600 kD and contains 13 nonidentical protein subunits, including EIF3J. EIF3 plays a central role in binding of initiator methionyl-tRNA and mRNA to the 40S ribosomal subunit to form the 40S initiation complex (Fraser et al., 2004 [PubMed 14688252]; Fraser et al., 2007 [PubMed 17588516]).[supplied by OMIM, Mar 2008] 15 15 q21.1 42616558 42642293 + 44829266 44855001 + 1580863;6480464 14688252;9822659;12588972;17588516;17190833;17081983;16964243;15489334;14702039;14519125;12477932;11560931;10672017;8995410;8995409;16169070;17403899;15946946;17322308;18599441;19615732;20060839;22863883;19471022;21139048;21890473;20360068;22025682;22113938;22190034;22804784;23000965;23455922;18628297 8669 B4DUI3;F5H425;H0YGJ7;H0YLP3;O75822 ABBA01039203;ABBA01039204;AC009996;AF090923;AK002006;AK023388;AK300659;AMYH01006612;BC002719;CH471082;NM_003758;U97670 AAC78729;AAF24039;AAH02719;BAB14555;BAG62345;EAW77268;EAW77269;EAW77270;EAW77271;NP_003749;O75822 Hs.404056 1673139;1795756;2111228;2163794;2166992;7188959;7188965 Bdaa6a02;D15S1338;D15S484;EIF3S1_619;RH15713 EIF3S1;eIF3-alpha;eIF3-p35 OTTHUMP00000161809;OTTHUMP00000237165;OTTHUMP00000237166;eIF-3-alpha;eIF3 p35;eukaryotic translation initiation factor 3 subunit 1;eukaryotic translation initiation factor 3 subunit J;eukaryotic translation initiation factor 3, subunit 1 (alpha, 35kD);eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa APPROVED protein-coding ENSG00000104131 3270 04883 603910 VALIDATED 1348458 EIF4A1P1 eukaryotic translation initiation factor 4A1 pseudogene 1 21 21 21 q21.2 13922506 13923473 - 27661102 27662242 - 28739331 28740298 - 10830953;19846067 54052 ABBA01057229;AMYH01012181;AP001604;NG_000924 1756761 SHGC-143891 EIF4A1P APPROVED pseudo 3283 INFERRED 1350072 EIF3I eukaryotic translation initiation factor 3, subunit I 1 1 p34.1 32460558 32469792 + 32687971 32697205 + 1302501;1580863;6480464 7566156 14688252;17353931;18624398;12588972;19329541;19059401;16929481;16341674;16236267;15592455;15489334;15231747;14519125;12477932;11781097;10706629;9822659;9813058;9599024;17403899;21145461;21319273;8995410;8995409;8125298;7566158;16541103;9368056;17322308;17581632;18599441;19615732;16159877;22939629;21378021;20508642;15047060;16196087;17314511;15604093;20360068;22022972;18781797;21987572;20972266;21139048;21890473;21906983;21963094;22145905;17620599;22318606;22586326;17361185;21628590;22863883;22990118;22053931;22174317;22190034;22505724;18628297 8668 Q13347;Q5TFK1;Q5U0F4 ABBA01023434;ABBA01023435;ABBA01023436;AF116697;AK130633;AK222483;AK225024;AK289356;AK289882;AL049795;AL121991;AMYH01000465;BC000413;BC003140;BC018815;BM761611;BT019597;CH471059;NM_003757;U36764;U39067 AAC50224;AAC97144;AAF71117;AAH00413;AAH03140;AAV38404;ABM82175;ABM85526;BAD96203;BAF82045;BAF82571;EAX07552;EAX07553;EAX07554;EAX07555;NP_003748;Q13347 Hs.530096 1680070;1732858;2107033;2115908;2121843;2139791;2144777;5022322;5037552 D11S2560;D1S1290;D8S2279;EIF3S2_7926;RH64484;RH71226;RH98843;SHGC-74136;SHGC-74533 EIF3S2;PRO2242;TRIP-1;TRIP1;eIF3-beta;eIF3-p36 OTTHUMP00000008492;TGF-beta receptor-interacting protein 1;TGFbeta receptor-interacting protein 1;eIF-3-beta;eIF3 p36;eukaryotic translation initiation factor 3 subunit 2;eukaryotic translation initiation factor 3 subunit I;eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD);eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa;predicted protein of HQ2242 protein-coding ENSG00000084623 3272 04884 603911 VALIDATED 2881093 EIF4A1P10 eukaryotic translation initiation factor 4A1 pseudogene 10 X X 91868039 91869418 - 91368097 91369476 - 100421533 AL136362;AMYH01022683;NG_022621 2188139;2188145 G66076;G66080 pseudo 37930 INFERRED 3051018 EIF4A1P12 eukaryotic translation initiation factor 4A1 pseudogene 12 14 14 8928499 8928642 + 29062979 29063122 + 100462830 ABBA01061375;AL121766;AMYH01005627;NG_022856 pseudo 37933 INFERRED 3051020 EIF4A1P13 eukaryotic translation initiation factor 4A1 pseudogene 13 7 7 82783344 82783582 - 88078103 88078341 - 100462826 AACC02000015;ABBA01045859;AC002069;AMYH01017672;CH236949;NG_022543 pseudo 37934 INFERRED 2947880 EIF4A1P2 eukaryotic translation initiation factor 4A1 pseudogene 2 Y Y p11.2 5265546 5267121 - 5205644 5207021 - 12815422;9847074 359792 ABBA01069897;ABBA01069898;AC010129;NG_002809;NG_011652 2188139;2188145 G66076;G66080 pseudo 23946 INFERRED 3051022 EIF4A1P3 eukaryotic translation initiation factor 4A1 pseudogene 3 9 9 105198064 105198282 - 134657960 134658178 - 100462824 ABBA01012104;AL160271;AMYH01021785;NG_021637 pseudo 37922 INFERRED 3129632 EIF4A1P11 eukaryotic translation initiation factor 4A1 pseudogene 11 1 1 1 q25.2 152279656 152279958 + 177437382 177457883 + 179170759 179171061 + 100130006 ABBA01027822;AL512326;AMYH01001529;NG_021474;NG_028242 1649128;1652365;1652367;1708152;1795280;2134124;2146281;5114087 A005M30;ABL2_197;G20336;RH66836;RH69130;SGC38261;SHGC-75959;SHGC-79323 pseudo 37932 INFERRED 3184766 EIF4A1P5 eukaryotic translation initiation factor 4A1 pseudogene 5 13 13 13 q13.3 18579738 18583773 - 36410452 36414487 - 37512452 37516487 - 390394 ABBA01021349;AL138706;AMYH01005041;NG_011401 1737325;2111614;2111622 D13S1550;D13S1559;D13S928 pseudo 37924 INFERRED 3436178 EIF4A1P4 eukaryotic translation initiation factor 4A1 pseudogene 4 12 12 12 q13.13 53195659 53196874 + 51829540 51834697 + 53547056 53548271 + 22118674 728698 ABBA01008317;AC073573;AMYH01004477;NG_021721 2171703 D12S1871 pseudo 37923 INFERRED 3161438 EIF4A1P6 eukaryotic translation initiation factor 4A1 pseudogene 6 13 13 13 q21.2 42170129 42171337 - 60109021 60110232 - 61211023 61212231 - 390407 ABBA01050216;AL161901;AMYH01005158;CH471124;NG_022897 EAW52083 pseudo 37925 INFERRED 3078516 EIF4A1P7 eukaryotic translation initiation factor 4A1 pseudogene 7 13 13 13 q12.3 10248723 10250110 + 28054893 28072250 + 29172954 29174341 + 341784 ABBA01035724;AL138822;AMYH01004994;NG_011333 pseudo 37926 INFERRED 3539536 EIF4A1P8 eukaryotic translation initiation factor 4A1 pseudogene 8 10 10 q23.32 87641148 87642490 + 93896617 93898272 + 100289102 ABBA01021917;AL158040;AMYH01002946;NG_022188 2143903 G17554 FLJ20445 pseudo 37927 INFERRED 1351668 EIF3H eukaryotic translation initiation factor 3, subunit H 8 8 q24.11 117726236 117837243 - 117657055 117768062 - 1580863;2289900;2289901;2289902;6480464;6907045 14997205;11733359;10362802 18599441;9341143;12588972;19204574;18544531;18372905;17353931;17081983;16652384;16344560;16189514;15489334;14702039;14578863;14519125;12812986;12477932;9822659;8995410;8995409;8125298;16286006;17403899;21319273;17043677;17322308;17581632;18029348;19060904;19615732;20437058;20659471;16159877;16226712;20862326;20508642;22863883;22939629;22990118;16196087;20360068;22108332;21139048;21890473;21906983;21761138;17361185;21628590;16263121;18628297;21963094;22969067;23000965;23184937;23398456;20016921;22190034;22505724 8667 B3KS98;E5RFH0;E5RFW7;E5RGU4;E5RH59;E5RHC7;E5RJT0;O15372;Q6IB98 AA902770;ABBA01037790;ABBA01037791;ABBA01037792;AC023520;AF092576;AK093128;AK222520;AK222620;AK296162;AMYH01018980;AMYH01018981;AMYH01018982;AP002905;AU117206;BC000386;BC090880;BT019594;CH471060;CR456906;NM_003756;U54559 AAC84044;AAD03465;AAH00386;AAH90880;AAV38401;BAD96240;BAD96340;BAG52660;BAG58901;CAG33187;EAW91956;EAW91957;EAW91958;EAW91959;NP_003747;O15372 Hs.492599 1748949;1752221;1760489;1853067;2127825;2133189;2133191;2176571 A001W19;D8S1668;G19711;RH69256;SHGC-106117;SHGC-110597;SHGC-143430;SHGC-31909 EIF3S3;MGC102958;eIF3-gamma;eIF3-p40 OTTHUMP00000227892;OTTHUMP00000227893;eIF-3-gamma;eIF3 p40 subunit;eukaryotic translation initiation factor 3 subunit 3;eukaryotic translation initiation factor 3 subunit H;eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD);eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD);eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa protein-coding 3273 04885 603912 VALIDATED 3103083 EIF4A2P1 eukaryotic translation initiation factor 4A2 pseudogene 1 18 18 18 p11.21 12795417 12796454 + 12902460 12903908 + 12912868 12913905 + 646171 ABBA01074032;AMYH01008843;AP002449;NG_022488 pseudo 37929 INFERRED 3077883 EIF4A1P9 eukaryotic translation initiation factor 4A1 pseudogene 9 17 17 17 p13.3 2506309 2507848 - 2436369 2444843 - 2489622 2491161 - 642746 ABBA01054715;AC015799;AMYH01008016;NG_022440 pseudo 37928 INFERRED 7241116 EIF4A2P2 eukaryotic translation initiation factor 4A2 pseudogene 2 10 74960121 74960983 + 100421579 ABBA01020332;AC016394;AMYH01002827;NG_025519 pseudo 45099 INFERRED 7240942 EIF4A2P4 eukaryotic translation initiation factor 4A2 pseudogene 4 X p11.22 52861893 52862949 - 286512 ABBA01056334;ABBA01056335;AC244505;AL445236;AMYH01022402;NG_022602 1677997;2181201 RH68259;SGC31473 pseudo 45101 INFERRED 1347862 EIF4BP1 eukaryotic translation initiation factor 4B pseudogene 1 14 14 14 q21.2 24406929 24407272 - 43616390 43616933 - 44546739 44547082 - 6480464 319118 ABBA01018034;AL109766;AMYH01005697;NG_002499 EIF4BP APPROVED pseudo 19929 INFERRED 1342979 EIF3K eukaryotic translation initiation factor 3, subunit K The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008] 19 19 19 q13.2 35911748 35929621 + 43801562 43819435 + 39109722 39127595 + 1580863;6480464 17353931;12588972;18577580;17081983;16189514;15489334;15327989;15180986;14519125;12477932;12006665;11042152;17403899;17207965;17322308;17581632;18599441;19615732;22863883;22939629;18029348;21906983;21987572;19471022;20360068;21139048;21693764;21890473;22779921;22053931;22190034;22505724 27335 B4DQ48;B7ZAM9;K7EIN6;K7EK53;K7EMQ9;K7EQM4;K7ERF1;K7ES31;Q9UBQ5 AB019392;ABBA01040690;AC008649;AF077051;AF085358;AF109355;AF315506;AK026531;AK289554;AK298635;AK301035;AK316344;AMYH01009784;AY245432;BC001031;BC007335;BC007559;BF664642;CH471126;NM_013234 AAD27784;AAD40193;AAH01031;AAH07335;AAH07559;AAK01365;AAP22070;AAQ13503;ADQ31730;BAA76626;BAF82243;BAG60810;BAG62649;BAH14715;EAW56803;EAW56804;EAW56805;EAW56806;EAW56807;EAW56808;NP_037366;Q9UBQ5 Hs.314359 2160703;2163029;2191773;5022114;5124389 A008T17;D5S2421;MARC_7311-7312:996687763:1;RH45462;RH91438 ARG134;EIF3-p28;EIF3S12;HSPC029;M9;MSTP001;PLAC-24;PLAC24;PRO1474;PTD001 eIF-3 p25;eIF-3 p28;eukaryotic translation initiation factor 3 subunit 12;eukaryotic translation initiation factor 3 subunit K;eukaryotic translation initiation factor 3, subunit 12;muscle specific;muscle-specific gene M9 protein APPROVED protein-coding ENSG00000178982 24656 11740 609596 VALIDATED 3302174 EIF4BP2 eukaryotic translation initiation factor 4B pseudogene 2 10 10 10 p12.31 21004608 21006418 + 21357934 21359751 + 21317928 21319745 + 21088106 100129337 ABBA01034505;AL359175;AMYH01002167;NG_017092;NG_022968 pseudo 37935 INFERRED 3418311 EIF4BP3 eukaryotic translation initiation factor 4B pseudogene 3 9 9 9 q22.32 69349890 69351734 + 97942833 97950079 + 98908292 98910135 + 100128771 ABBA01043600;AL449403;AMYH01021542;NG_021667 pseudo 37936 INFERRED 3129619 EIF4BP4 eukaryotic translation initiation factor 4B pseudogene 4 3 3 3 p22.1 42321125 42322943 + 42357045 42358863 + 42382041 42383859 + 100130064 ABBA01024770;AC092048;AMYH01013112;NG_022954 pseudo 37937 INFERRED 2881097 EIF4BP5 eukaryotic translation initiation factor 4B pseudogene 5 16 16 32106934 32108734 - 47598995 47600795 - 100421528 ABBA01013751;AC007599;AMYH01007645;NG_022504 pseudo 37938 INFERRED 3255139 EIF4BP6 eukaryotic translation initiation factor 4B pseudogene 6 7 7 7 q22.2 99113931 99117782 + 104095316 104099373 + 104308180 104312032 + 645579 AACC02000005;ABBA01057970;AC079796;AMYH01017815;CH236947;NG_005592 1795760 EIF4E_1193 pseudo 37939 INFERRED 2816792 EIF4BP7 eukaryotic translation initiation factor 4B pseudogene 7 X X X q23 111340503 111344366 - 110748270 110751398 - 110860882 110864744 - 643873 AL589880;AMYH01022842;NG_022961 1795760 EIF4E_1193 pseudo 37940 INFERRED 3498763 EIF4BP8 eukaryotic translation initiation factor 4B pseudogene 8 3 3 3 q21.1 120789283 120790592 + 123862150 123863984 + 122379460 122380768 + 22566498 339881 ABBA01016467;AC092908;AMYH01013430;NG_022269 pseudo 37941 INFERRED 3231891 EIF4BP9 eukaryotic translation initiation factor 4B pseudogene 9 X X X q12 65641524 65643327 - 65212291 65250736 - 65294384 65296187 - 100129692 ABBA01067086;AL139276;AMYH01022506;NG_022999 pseudo 37942 INFERRED 1607072 EIF3M eukaryotic translation initiation factor 3, subunit M This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011] 11 11 11 p13 32752144 32770766 + 32561967 32580595 + 32605313 32624037 + 6480464 18599441;17322308;19483676;17719568;17353931;15919899;15919898;15231747;14702039;12477932;8125298;16169070;19615732;20379614;20838379;20676407;20508642;21832049;22863883;22939629;20360068;18781797;22022972;19471022;20972266;21139048;21890473;21906983;21963094;22053931;22174317;22190034;22505724 10480 B4E2Q4;E7ESM3;E9PN86;E9PRI2;E9PRY0;E9PSB3;H0YCQ8;J3KNJ2;Q7L2H7 ABBA01060908;AF064603;AF277183;AK001768;AK131064;AK222564;AK292139;AK300002;AK304378;AK307121;AK312512;AL078477;AMYH01003479;AY769947;BC011937;BC019103;BC020458;BC051292;CH471064;CR450300;DB479224;DQ185042;NM_006360 AAC17108;AAH19103;AAH51292;AAK07542;AAX12524;ABD14422;BAD96284;BAF84828;BAG35413;BAG61821;BAG65216;CAG29296;EAW68217;EAW68218;NP_006351;Q7L2H7 Hs.502244 1703220;1734024;5014593;5491707 A002N23;AU040300;D11S2164;SGC31799 B5;FLJ29030;GA17;PCID1;TANGO7;hfl-B5 B5 receptor;OTTHUMP00000232370;OTTHUMP00000232371;PCI domain containing 1 (herpesvirus entry mediator);PCI domain-containing protein 1;dendritic cell protein;eukaryotic translation initiation factor 3 subunit M;fetal lung protein B5;transport and golgi organization 7 homolog APPROVED protein-coding 24460 09969 609641 VALIDATED 1317885 EIF3L eukaryotic translation initiation factor 3, subunit L 22 22 22 q 22047135 22086399 + 36575316 36614584 + 38245379 38284789 + 1580863;6480464 17403899;21145461;15231747;17353931;18029348;16189514;15489334;15461802;15231748;14702039;12477932;12393749;11592397;11590142;11042152;8125298;16522924;16169070;17322308;17581632;18599441;19615732;22939629;22863883;16344560;20508642;19167051;18781797;20360068;21081666;21900206;21987572;21139048;21890473;21906983;22586326;19738201;21963094;22623428;22190034;22505724 51386 B0QY89;B0QY90;C9JHP4;C9K0Q7;H0Y7E6;H7C133;H7C3A0;Q6ICD2 ABBA01055490;ABBA01055491;ABBA01055492;AF077207;AF083243;AF109359;AK027429;AK056129;AK093540;AK098457;AK098713;AK129648;AK222496;AK222529;AK293629;AK298776;AK301323;AK302346;AK315533;AL022311;AL357455;AMYH01012757;BC001101;BC007510;BC011448;BC029265;CD638692;CH471095;CR456436;DA051005;DA663575;NM_001242923;NM_016091;Z97630 AAD27002;AAD39841;AAH01101;AAH07510;AAH11448;AAH29265;AAQ13507;ABM82768;ABM84521;ABM85956;ABW03762;BAC05310;BAD96216;BAD96249;BAG37913;BAG51322;BAG51631;BAG52737;BAG57085;BAG60918;BAG62872;BAG63674;CAG30322;CAK54466;CAK54765;EAW60195;EAW60196;EAW60197;EAW60198;NP_001229852;NP_057175;Q9Y262 Hs.446852 1665999;1677602;5037552 D8S2279;G27412;RH40245 EIF3EIP;EIF3S11;EIF3S6IP;HSPC021;HSPC025;MSTP005 OTTHUMP00000198211;OTTHUMP00000198212;eIEF associated protein HSPC021;eukaryotic translation initiation factor 3 subunit 6-interacting protein;eukaryotic translation initiation factor 3 subunit E-interacting protein;eukaryotic translation initiation factor 3 subunit L;eukaryotic translation initiation factor 3, subunit 6 interacting protein;eukaryotic translation initiation factor 3, subunit E interacting protein protein-coding 18138 10932 VALIDATED 1351027 EIF4E2P1 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 20 20 20 p11.23 20714411 20714687 + 20588232 20589022 + 20640332 20640608 + 128770 ABBA01054091;AL078634;AMYH01011764;NG_005202 EIF4EL4;dJ1049G11.3 eukaryotic translation initiation factor 4e member 2 pseudogene 1 pseudo 16237 INFERRED 1354204 EIF4A1 eukaryotic translation initiation factor 4A1 17 17 p13 7416781 7423048 + 7476024 7482324 + 6480464;6484113 18296639;9790779;3215517;9548260;8449919;12588972;9168945;19203580;18719248;18034160;17130132;15489334;15282546;15082783;12477932;12426392;11903057;11408474;11073994;10880459;10644445;10611228;9418880;9372926;8493113;16541103;17353931;16648488;21454508;16166382;16169070;17643375;20156963;21145461;21319273;16159877;18700728;19661379;20927385;21377182;8619474;9110174;21427765;21182205;22939629;22990118;23077236;16196087;17314511;19135240;20000738;21800051;20360068;21081666;21840318;22076380;18781797;20639865;20972266;21139048;21890473;21900206;21906983;21987572;22118674;21252943;17053147;17361185;21628590;22586265;22589333;21110914;20080577;22145905;22586326;19738201;19805454;21963094;22623428;22689062;23000965;17284590;16027165;21853274;22053931;22505724;22797925 1973 B4E102;J3KRC2;J3KS25;J3KS93;J3KSP3;J3KSZ0;J3KT04;J3KT12;J3KTB5;J3KTN0;J3QKZ9;J3QL43;J3QL52;J3QLN6;J3QQP0;J3QR64;J3QRP5;J3QS69;P60842 AA446856;ABBA01054873;AC016876;AF175325;AK130082;AK289453;AK291971;AK296664;AK297916;AK303222;AK303599;AK309274;AK312630;AMYH01008085;BC006210;BC009585;BC032078;BC073752;BG284868;BT019880;BT019881;CH471108;D13748;NM_001204510;NM_001416;U79273 AAF34151;AAH09585;AAH73752;AAV38683;AAV38684;ABM83970;ABM87287;BAA02897;BAF82142;BAF84660;BAG35515;BAG59261;BAG60234;BAG64309;BAG64614;EAW90166;EAW90167;EAW90168;EAW90169;NP_001191439;NP_001407;P60842 Hs.129673 1677160;1767709;1853135;2120336;2135284;5020647;5020649;5024740;5122515 A004D02;A005T43;G66079;G66086;RH11592;RH11637;RH36626;RH47184;SHGC-31951 DDX2A;EIF-4A;EIF4A;eIF-4A-I;eIF4A-I ATP-dependent RNA helicase eIF4A-1;OTTHUMP00000135288;eIF-4A-I;eIF4A-I;eukaryotic initiation factor 4A-I;eukaryotic initiation factor 4AI;eukaryotic translation initiation factor 4A, isoform 1 APPROVED protein-coding ENSG00000161960 3282 04030 602641 VALIDATED 1601810 EIF4E1B eukaryotic translation initiation factor 4E family member 1B 5 5 5 q35.2 172426610 172442576 - 175990289 176006248 + 176057683 176073642 + 6907045 16344560;16191198;15372022;14702039;8889548 253314 A6NMX2;D6RHE2;H0Y8X3 ABBA01033484;ABBA01033485;AC091934;AK094270;AMYH01015864;AMYH01015865;BM709255;DA689940;DR008159;DR731203;NM_001099408 A6NMX2;NP_001092878 Hs.448362 FLJ36951 OTTHUMP00000223378;OTTHUMP00000223380;eukaryotic translation initiation factor 4E type 1B protein-coding ENSG00000175766 33179 VALIDATED 1315118 EIF4B eukaryotic translation initiation factor 4B 12 12 q13.13 51686329 51722260 + 53400062 53435993 + 1580863;6480464;6484113;6907045 10672017;10585411;8816444;8182051;8139536;8125298;6722878;16286006;2390971;12588972;15314020;18719248;17081983;16763566;15342556;15302935;15078951;15071500;14702039;12885229;12477932;11274152;20562859;14968112;16281055;17361185;19369421;19615732;2016328;21145461;21427765;22863883;22939629;19167051;21994950;20360068;21840318;21139048;21906983;21987572;19322201;21044950;21743057;17620599;19542561 1975 B4DS13;E7EX17;F8VP89;F8VRU1;F8VSC7;F8VX11;F8VYE9;F8W0K0;P23588 AB076839;ABBA01008309;ABBA01008310;ABBA01008311;ABBA01008312;AC068888;AF119854;AK092188;AK222528;AK293731;AK299329;AK299510;AK299526;AK307496;AK310244;AK312187;AMYH01004477;BC001097;BC007745;BC013994;BC047302;BC061907;BC064029;BC073139;BC073154;BC098437;BG547613;BP236621;BP243230;BU431305;BU902688;CH471054;CR456958;CR627377;NM_001417;X55733 AAF69608;AAH01097;AAH73139;AAH73154;AAH98437;BAB82380;BAD96248;BAG35120;BAG57157;BAG61335;BAG61463;BAG61475;CAA39265;CAG33239;CAH10474;EAW96657;NP_001408;P23588 Hs.648394;Hs.702041 1747727;1795760;5016478;5037552;5113198;5117176;5118252;5125085 D16S2650;D8S2279;DXS6986E;EIF4E_1193;G64236;GDB:434012;GDB:451628;RH68256 EIF-4B;PRO1843 OTTHUMP00000241569;OTTHUMP00000241570;OTTHUMP00000241599;eukaryotic translation initiation factor 4B protein-coding ENSG00000063046 3285 04892 603928 VALIDATED 1348355 EIF4EBP1P1 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 14 14 14 q11.2 1753254 1754061 + 20957498 20958505 + 21887759 21888566 + 326295 ABBA01061245;AL161747;AMYH01005595;NG_002547;NG_021249 EIF4EBP1P APPROVED pseudo 20160 INFERRED 6484021 EIF4EBP1P2 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 2 22 q12 24348399 24349225 + 768328 ABBA01055124;AP000351;NG_005781 pseudo 44047 INFERRED 1319448 EIF4A2 eukaryotic translation initiation factor 4A2 3 3 q28 187984055 187990380 + 186501361 186507686 + 1580863;6480464 12588972;8521730;17353931;8449919;19034380;18593934;16567544;16014927;15946665;15489334;12477932;11922617;11408474;8125298;11172724;16169070;17643375;18250159;19615732;21427765;22939629;22990118;15047060;22360420;21110914;19596686;20360068;20639865;21139048;21890473;21900206;21906983;22589333;20972266;21963094;21987572;23000965;23383273;23559250;22053931;22505724;22759308;22944692 1974 C9JUF0;E7EMV8;E7EQG2;E9PBH4;F8WE11;J3KSN7;Q14240;Q9NZE6 AB209021;ABBA01058381;AC112907;AF208852;AK130087;AK225646;AK296279;AL117412;AL137681;AL556981;AMYH01013736;AY207392;BC006469;BC012547;BC013708;BC015842;BC016295;BC039344;BC048105;BT009860;CH471052;D30655;NM_001967;S79942 AAF64266;AAH12547;AAH13708;AAH15842;AAH16295;AAH48105;AAO66460;AAP88862;ABM82664;ABM85840;BAA06336;BAD92258;BAG58988;CAI46218;EAW78172;EAW78173;EAW78174;EAW78175;EAW78176;EAW78177;EAW78178;NP_001958;Q14240 Hs.518475;Hs.599481 1677997;1681582;1735188;1739485;1788590;1788594;2139524;2175627;2181201;2181203;5119459 D20S1005;D3S2828E;D3S3408;G67572;G67574;RH46123;RH68259;SGC31473;SHGC-30529;SHGC-77594;UTR-9640 BM-010;DDX2B;EIF4A;EIF4F;eIF-4A-II;eIF4A-II ATP-dependent RNA helicase eIF4A-2;OTTHUMP00000210098;OTTHUMP00000210100;OTTHUMP00000210101;eukaryotic initiation factor 4A-II;eukaryotic translation initiation factor 4A, isoform 2 APPROVED protein-coding ENSG00000156976 3284 03062 601102 VALIDATED 1350854 EIF4EBP2P eukaryotic translation initiation factor 4E binding protein 2 pseudogene 20 20 20 q13.11 38759041 38759723 - 41485250 41485595 - 42051552 42052234 - 170510 ABBA01052612;AL031681;AMYH01011925;NG_001034 dJ862K6.3 pseudo 16596 INFERRED 1352000 EIF4A3 eukaryotic translation initiation factor 4A3 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008] 17 17 q25.3 75723612 75735533 - 78109013 78120982 - 1580863;6480464;6907045 14973490;16189514;10523622;14730019;18427545;17632064;17606899;17456004;16931718;16209946;21145461;21319273;16170325;15796914;15635413;15489334;15324660;15034551;12477932;12127692;11991638;10623621;7788527;18954305;15024115;16344560;17643375;18423201;19435936;16923391;19884259;16601204;16159877;19417104;21145460;22863883;22961380;21576267;22939629;16196087;20360068;21081666;21110914;18781797;19471022;21139048;21890473;21906983;22178446;17361185;21628590;17190602;18974867;21853274;22505724;22952844 9775 I3L3H2;P38919 ABBA01015410;AC087741;AK290608;AMYH01008692;BC003662;BC004386;BC011151;CA428254;CH471099;CR456750;CR749455;D21853;DA667983;NM_014740;X79538 AAH03662;AAH04386;AAH11151;BAA04879;BAF83297;CAA56074;CAG33031;EAW89584;EAW89585;NP_055555;P38919 Hs.389649 1677264;1775084;2173856;5015619;5020946;5037552 D11S3114;D17S2053;D8S2279;L17971;RH25336;RH36128 DDX48;DKFZp686O16189;KIAA0111;MGC10862;NMP265;NUK-34;NUK34;eIF4AIII;hNMP265 ATP-dependent RNA helicase DDX48;ATP-dependent RNA helicase eIF4A-3;DEAD (Asp-Glu-Ala-Asp) box polypeptide 48;DEAD box protein 48;NMP 265;eIF-4A-III;eIF4A-III;eukaryotic initiation factor 4A-III;eukaryotic initiation factor 4A-like NUK-34;eukaryotic translation initiation factor 4A, isoform 3;hNMP 265;nuclear matrix protein 265 APPROVED protein-coding ENSG00000141543 18683 06482 608546 REVIEWED 1348241 EIF4E3 eukaryotic translation initiation factor 4E family member 3 EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008] 3 3 3 p14 71659031 71734517 - 71814568 71885465 - 71728440 71803924 - 6480464 16344560;15153109;12477932;20434207;19322201 317649 C9J6E5;C9J7Z6;C9JUY2;Q8N5X7 ABBA01030936;ABBA01030937;AC096970;AC097634;AC134770;AK126999;AK313656;AL161983;AMYH01013273;AMYH01013274;AMYH01013275;AMYH01013276;BC022303;BC031289;BC068443;BX648727;CH471055;DA227887;DA394405;DN990553;DR159502;NM_001134649;NM_001134650;NM_001134651;NM_173359 AAH31289;AAH68443;BAG36410;BAG54418;EAW65503;EAW65504;NP_001128121;NP_001128122;NP_001128123;NP_775495;Q8N5X7 Hs.581355 1298160;1667464;1668744;1687736;1733822;1735094;1757539;1857067;2120318;2136774;2137300;2164700;5092950;7184878 A008Y36;A009C45;D3S1487;D3S2775E;D3S3551;G32431;RH65929;RH80253;SHGC-144969;SHGC-77104;SHGC-77105;SHGC-77114;WI-21047 MGC39820;MGC86971 OTTHUMP00000213497;OTTHUMP00000213498;OTTHUMP00000213524;OTTHUMP00000213525;OTTHUMP00000213527;eIF-4E type 3;eIF-4E3;eIF4E type 3;eIF4E-3;eukaryotic translation initiation factor 4E type 3 APPROVED protein-coding ENSG00000163412 31837 10687 609896 VALIDATED 1346321 EIF4EP1 eukaryotic translation initiation factor 4E pseudogene 1 20 20 20 p13 5600333 5601126 + 5477386 5478224 + 5529498 5530291 + 9468520;1916814 1980 ABBA01053880;AL109935;AMYH01011695;NG_002658 2137245 STS-R10161 EIF4EL2;dJ1022P6.3 pseudo 3292 INFERRED 5509672 EIF4EP2 eukaryotic translation initiation factor 4E pseudogene 2 17 17 q21.33 44855640 44857307 - 47500652 47502297 - 21987572 100131693 ABBA01041208;AC091180;AMYH01008468;CH471109;NG_023334 EAW94679 pseudo 32428 VALIDATED 732833 EIF4E eukaryotic translation initiation factor 4E The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of cellular mRNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the mRNA. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 4 4 q21-q25 100020235 100070139 - 99799607 99851786 - 1580863;6480464;6484113;6907045 21238947;3469651;9878069;10856257;15153109;15247416;16739988;17353931;18805096;7935836;8449919;12588972;15809305;19383915;19367274;19289374;19262567;19244480;19188486;19134194;19122207;19114552;19020722;12105188;11959093;11879179;11847216;11771728;11605658;11553333;11500381;11408474;11401917;11154262;11072066;10910074;10880459;10870064;10648556;10600798;10394359;10022874;9628874;9607624;9593750;9418880;9372926;9330633;9155017;8939971;8816458;8662663;8521827;8505316;7782323;7665584;7651417;7590282;3112145;2016328;1993647;1916814;1736299;1674733;1672854;1384058;12775419;12089333;18957614;16824195;16648488;16242075;16189514;12071973;10753870;10698949;10405182;10364159;16541103;16023599;15897904;15361857;12138083;18719964;18614538;18593934;18479935;18343217;18234281;17855553;17786246;17724079;17689990;17667941;17638893;17631896;17601486;17524464;17316564;17245113;17203162;17074885;17010208;16756390;16720573;16699599;16540463;16341674;16332685;16112647;15961545;15956551;15878868;15840819;15542544;15489334;15487973;15375804;15371741;15355912;15220445;15122903;15094042;14990584;14732354;14645512;12975586;12918105;12897141;12781867;12691746;12554669;12482586;12477932;12374671;12239292;12189553;12186496;12169454;12167712;12151318;18789325;17357517;20499137;21159249;20359850;10772338;14558943;14673156;16271312;16281055;17254965;18250159;19261348;19440045;19483468;19556253;19560264;19603014;19615732;19776122;19850923;19850929;20053821;20379614;21088106;20655307;20537983;20224576;20421305;20427534;21145089;21047768;20686366;20434207;21876152;21389327;16124648;21320304;22902403;21415224;21334199;22748716;21832049;22863883;22939629;23100465;22797067;19060904;21995271;21964297;20101233;21750861;20360068;21661078;22318606;22397984;22216185;21883093;21913890;21941146;9873047;21139048;22556409;22457629;20652449;11575918;22456335;22586265;22684010;12588975;15767663;16798736;21890473;21963094;21987572;21988832;22509910;22623428;23000965;23277284;23410891;23547259;22505724;22614784;22759308;22851180;22872150 1977 D6RBW1;D6RFJ3;H0Y8J7;P06730;Q32Q75 ABBA01063663;ABBA01063664;ABBA01063665;AC019131;AC093836;AJ844638;AK300982;AMYH01014418;AV708571;BC012611;BC035166;BC043226;BC107715;BM849222;CA419184;CH471057;CS060531;DC388666;HC742040;HI923841;HI927571;M15353;NM_001130678;NM_001130679;NM_001968 AAC13647;AAH12611;AAH35166;AAH43226;AAI07716;ABM81654;ABM84829;BAH13387;CAI79364;CBL95069;CBY65608;CBY65610;EAX06077;EAX06078;EAX06079;EAX06080;EAX06081;NP_001124150;NP_001124151;NP_001959;P06730 Hs.249718 1672166;1678445;1686374;1794798 PMC56953P1;RH92334;RH99170;SHGC-31816 AUTS19;CBP;EIF4E1;EIF4EL1;EIF4F;MGC111573 OTTHUMP00000219701;OTTHUMP00000219702;OTTHUMP00000219703;OTTHUMP00000219704;OTTHUMP00000219705;eIF-4E;eIF-4F 25 kDa subunit;eukaryotic translation initiation factor 4E;eukaryotic translation initiation factor 4E-like 1;mRNA cap-binding protein APPROVED protein-coding 3287 00591 133440;615091 VALIDATED 1353500 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008] 8 8 p12 38007177 38037040 + 37888020 37917883 + 1625616;1580863;2308795;6480464;6484113;6907045 16885148;19339977 7651417;16983702;16873412;16824195;16715128;16652388;16648488;16271312;16189514;16098202;15542544;15489334;15178440;15153109;15094042;14507920;12912989;12820960;12759354;12665801;12665511;12618431;12604610;12588975;12477932;12271141;12151318;12105188;12080086;11909977;11865047;11847216;11777913;11691836;11605658;11553333;11438723;11280764;11146653;11114166;11069026;10942774;10779345;10405182;10364159;10198256;10092805;9806882;9628874;9465032;9405468;9344920;9092573;8975712;8957083;8816458;8521827;8083223;12150925;7935836;15809305;19603014;19533653;19367274;19360336;19336517;19271249;19244480;19211763;19107520;19036825;18810319;18708753;18701920;18668138;18660489;18442140;18439897;18384376;18337562;18280804;17724476;17699757;17653084;17604271;17601486;17353931;17316564;17200342;17114181;17081983;18922789;18957614;16242075;12071973;10753870;10698949;16837165;16798736;15767663;12747827;12150926;16899564;15854902;10971657;10608806;10022874;15467718;20532202;21366462;10772338;14673156;16098514;16109716;16169070;17254965;19428047;19429661;19541645;19574449;19648884;19834456;19850923;20090955;20133758;20304964;21067588;20609351;21046149;20372058;20621385;17502379;22918237;22977662;22690797;21576371;21841310;21661078;21913890;21922152;21784851;21750861;21900206;21964297;22142830;10713094;23340172;22110663;22178476;15927069;22184107;22216185;21914810;22586265;22652449;22248270;22578813;18029348;22641346;23547259;15066126;15459249;17386266;17693255;18722121;20671708;21071439;21460630;22493283;18337751;23082216;18051367;22457629;23100465 1978 Q13541 AB044548;ABBA01023554;ABBA01023555;AK312011;AMYH01018652;AP006545;BC004459;BC058073;BF964628;BT007162;CH471080;CR456769;JB157968;L36055;NM_004095 AAA62269;AAH04459;AAH58073;AAP35826;ABM84657;ABM92187;BAB18650;BAG34949;CAG33050;CCW44094;EAW63341;EAW63342;NP_004086;Q13541 Hs.411641 1857614 RH48253 4E-BP1;4EBP1;BP-1;MGC4316;PHAS-I OTTHUMP00000225572;eIF4E-binding protein 1;eukaryotic translation initiation factor 4E-binding protein 1;phosphorylated heat- and acid-stable protein regulated by insulin 1 APPROVED protein-coding ENSG00000187840 3288 03746 602223 REVIEWED 1347749 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010] 5 5 5 q31.3 136004002 136005914 + 139907435 139909347 + 139927251 139929163 + 1580863;6480464 15153109;9593750;17316564;16271312;16189514;15489334;14557257;14507920;12482586;12477932;11865047;19615732;21088106;20621385;21145461;22684010 8637 O60516 ABBA01026426;AC011399;AF038869;AMYH01015659;BC010881;BC069293;BC073751;CH471062;NM_003732 AAC39761;AAH10881;AAH69293;AAH73751;EAW62056;NP_003723;O60516 Hs.594084 1651430;1735456;1773378;1773380;1792176;2107035;5492603 A001T37;D5S1582E;EIF4EBP3_7925;G19635;PMC138568P1;UniSTS:481777;WI-14182 4E-BP3;4EBP3 OTTHUMP00000159879;eIF4E-binding protein 3;eukaryotic initiation factor 4E-binding protein 3;eukaryotic translation initiation factor 4E-binding protein 3 APPROVED protein-coding ENSG00000243056 3290 09149 603483 REVIEWED 1348644 EIF4E2 eukaryotic translation initiation factor 4E family member 2 2 2 q37.1 233123601 233142164 + 233415357 233433920 + 1298632;6480464;6907045 9653160 22751931;9582349;15094042;17353931;17369309;17368478;17289916;16189514;15489334;15153109;14702039;14623119;12477932;11042152;19060904;19615732;20379614;21079520;21832049;21139048;21890473;20531386 9470 B4E1E4;B8ZZ50;B8ZZJ9;B8ZZL3;B9A023;B9A044;C9JEL3;H7BZH2;O60573;Q53RG0 AB209519;ABBA01002017;ABBA01002018;AC092165;AC093383;AF038957;AF047695;AF068117;AK022518;AK027239;AK303802;AMYH01011571;BC000360;BC005392;BC005874;BC021226;BC021690;CB994873;CH471063;NM_004846;W80980;XR_112445 AAC18565;AAC19374;AAC39871;AAH05392;AAH05874;AAH21226;AAH21690;AAY24105;BAD92756;BAG51083;BAG64756;EAW71007;EAW71008;EAW71009;EAW71010;NP_004837;O60573 Hs.292026;Hs.700929;Hs.743459 1767214;1847648;1850605 RH46922;SGC33929;SHGC-32234 4E-LP;4EHP;EIF4EL3;IF4e OTTHUMP00000164355;OTTHUMP00000203680;OTTHUMP00000203681;OTTHUMP00000203682;OTTHUMP00000203683;OTTHUMP00000203684;OTTHUMP00000203685;OTTHUMP00000203687;eIF-4E type 2;eIF4E type 2;eIF4E-like cap-binding protein;eIF4E-like protein 4E-LP;eukaryotic translation initiation factor 4E homologous protein;eukaryotic translation initiation factor 4E type 2;eukaryotic translation initiation factor 4E-like 3;mRNA cap-binding protein 4EHP;mRNA cap-binding protein type 3 protein-coding 3293 05798 605895 VALIDATED 1321948 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008] 10 10 q21-q22 71833928 71853676 + 72163861 72188374 + 1580863;6480464 18789325;15153109;19244480;17316564;16271312;15489334;14702039;14507920;12477932;11865047;11847216;11069026;10092805;9531283;9465032;9381973;9344920;8975712;8939971;7935836;7651417;12151318;20424163;19913121;20628086;20628624;16385451;21661078;16751776;19322201;16798736 1979 Q13542;Q6FG68 ABBA01019626;AC022532;AK001936;AK057643;AK313724;AMYH01002812;BC005057;BC015007;BC050633;BG717474;BT007317;CH471083;CR542240;CR627373;DQ583065;GM704530;L36056;NM_004096 AAA62270;AAH05057;AAH50633;AAP35981;ABM84031;ABM87376;BAG36466;CAG47036;CAT01881;EAW54400;EAW54401;EAW54402;NP_004087;Q13542 Hs.621200;Hs.730236 1660873;1662637;1663682;1687984;1776528;1795758;2150714;2177109;2182564;2183396;2183638;5024039 A001U33;D10S1294E;D10S1560;D10S2180;D16S325;EIF4EBP2_623;RH44583;SGC34484;SHGC-30283;SHGC-54611;WI-14658;WIAF-2085 4EBP2;PHASII 4E-BP2;OTTHUMP00000019756;eIF4E-binding protein 2;eukaryotic translation initiation factor 4E-binding protein 2;phosphorylated, heat and acid stable regulated by insulin protein II APPROVED protein-coding ENSG00000148730 3289 03747 602224 REVIEWED 1320332 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 22 22 22 q11.2 15635833 15686382 - 30165355 30215704 - 31835345 31885874 - 1580863;6480464 16344560;15840819;10856257;19060904;18343217;17567994;16713569;16699599;16189514;16157702;15489334;15461802;15345747;14702039;14651998;12477932;16343815;18029348;19850929;22966201;16147992;17314511;22505724 56478 B0QYZ7;B1AKL4;B1AKL5;B1AKL6;B4DR76;H7C0J7;Q9NRA8 AA609351;ABBA01055332;ABBA01055333;AF240775;AK025254;AK074768;AK130061;AK299136;AK314636;AL096701;AMYH01012716;AMYH01012717;BC012734;BC032941;BC033028;CH471095;CR456386;DA336484;DQ655937;DQ656044;NM_001164501;NM_001164502;NM_019843 AAF81693;AAH12734;AAH32941;AAH33028;ABM83407;ABM86618;BAB15092;BAC11194;BAG37198;BAG61188;CAG30272;CAK54376;CAK54675;EAW59977;EAW59978;EAW59979;NP_001157973;NP_001157974;NP_062817;Q9NRA8 Hs.517559 1706490;1735056;1797496;1799966;1804688;1805456;1805576;1806176;1807424;1807950;1808164;1808940;1809832;1811438;1811612;1812988;1813526;1814674;1816744;1818216;1818356;1818786;1819306;1819706;1820112;1822702;1824314;1825330;1826060;1828962;1829822;1830736;1831320;1831630;1832418;1832706;1832902;1833030;1833858;1834298;1835248;1835932;1839942;1840056;1840858;1844368;1844440;1845198;1845228;1845330;1846384;2006084;2006086;2006088;2006090;2006092;2006094;2006096;2006098;2006100;2006102;2006104;2006106;2006108;2006110;2006112;2006114;2006116;2006118;2006120;2006122;2006124;2006126;2006128;2006130;2006132;2006134;2006136;2006138;2006140;2006142;2006144;2006146;2006148;2006150;2006152;2006154;2006156;2006158;2006160;2006162;2006164;2006166;2006168;2006170;2006172;2006174;2006176;2006178;2006180;2006182;2006184;2006186;2006188;2006190;2006192;2006194;2006196;2006198;2006200;2006202;2006204;2006206;2006208;2006210;2006212;2006214;2006216;2006218;2006220;2006222;2006224;2006226;2006228;2006230;2006232;2006234;2006236;2006238;2006240;2006242;2006244;2006246;2006248;2006250;2006252;2006254;2006256;2006258;2006260;2006262;2006264;2006266;2006268;2006270;2006272;2006274;2006276;2006278;2006280;2006282;2006284;2006286;2006288;2006290;2006292;2006294;2006296;2006298;2006300;2006302;2006304;2006306;2006308;2006310;2006312;2006314;2006316;2006318;2006320;2006322;2006324;2006326;2006328;2006330;2006332;2006334;2006336;2006338;2006340;2006342;2006344;2006346;2006348;2006350;2006352;2006354;2006356;2006358;2006360;2006362;2006364;2006366;2006368;2006370;2006372;2006374;2006376;2006378;2006380;2006382;2006384;2006386;2006388;2006390;2006392;2006394;2006396;2006398;2006400;2006402;2006404;2006406;2006408;2006410;2006412;2006414;2006416;2006418;2006420;2006422;2006424;2006426;2006428;2006430;2006432;2006434;2006436;2006438;2006440;2006442;2006444;2006446;2006448;2006450;2006452;2006454;2006456;2006458;2006460;2006462;2006464;2006466;2006468;2006470;2006472;2006474;2006476;2006478;2006480;2006482;2006484;2006486;2006488;2006490;2006492;2006494;2006496;2006498;2006500;2006502;2006504;2006506;2097394;2097396;2097398;2097400;2097402;2097404;2097406;2097408;2097410;2097412;2097414;2097416;2097418;2097420;2097422;2097424;2097426;2097428;2097430;2097432;2097434;2097436;2097438;2097440;2097442;2097444;2097446;2097448;2097450;2097452;2097454;2097456;2097458;2097460;2097462;2097464;2097466;2153180;2176047 A002U33;D22S1105;D22S990E;ECD00837;ECD03276;ECD03676;ECD03736;ECD04042;ECD04683;ECD04950;ECD05063;ECD05453;ECD05908;ECD06717;ECD06809;ECD07508;ECD07784;ECD08367;ECD09416;ECD10165;ECD10235;ECD10457;ECD10720;ECD10920;ECD11129;ECD12439;ECD13255;ECD13771;ECD14139;ECD15608;ECD16044;ECD16504;ECD16796;ECD16952;ECD17348;ECD17494;ECD17592;ECD17656;ECD18075;ECD18297;ECD18779;ECD19127;ECD21154;ECD21212;ECD21622;ECD23398;ECD23434;ECD23816;ECD23831;ECD23882;ECD24412;EIF4ENIF1_2319;REN73958;REN73959;REN73960;REN73961;REN73962;REN73963;REN73964;REN73965;REN73966;REN73967;REN73968;REN73969;REN73970;REN73971;REN73972;REN73973;REN73974;REN73975;REN73976;REN73977;REN73978;REN73979;REN73980;REN73981;REN73982;REN73983;REN73984;REN73985;REN73986;REN73987;REN73988;REN73989;REN73990;REN73991;REN73992;REN73993;REN73994;REN73995;REN73996;REN73997;REN73998;REN73999;REN74000;REN74001;REN74002;REN74003;REN74004;REN74005;REN74006;REN74007;REN74008;REN74009;REN74010;REN74011;REN74012;REN74013;REN74014;REN74015;REN74016;REN74017;REN74018;REN74019;REN74020;REN74021;REN74022;REN74023;REN74024;REN74025;REN74026;REN74027;REN74028;REN74029;REN74030;REN74031;REN74032;REN74033;REN74034;REN74035;REN74036;REN74037;REN74038;REN74039;REN74040;REN74041;REN74042;REN74043;REN74044;REN74045;REN74046;REN74047;REN74048;REN74049;REN74050;REN74051;REN74052;REN74053;REN74054;REN74055;REN74056;REN74057;REN74058;REN74059;REN74060;REN74061;REN74062;REN74063;REN74064;REN74065;REN74066;REN74067;REN74068;REN74069;REN74070;REN74071;REN74072;REN74073;REN74074;REN74075;REN74076;REN74077;REN74078;REN74079;REN74080;REN74081;REN74082;REN74083;REN74084;REN74085;REN74086;REN74087;REN74088;REN74089;REN74090;REN74091;REN74092;REN74093;REN74094;REN74095;REN74096;REN74097;REN74098;REN74099;REN74100;REN74101;REN74102;REN74103;REN74104;REN74105;REN74106;REN74107;REN74108;REN74109;REN74110;REN74111;REN74112;REN74113;REN74114;REN74115;REN74116;REN74117;REN74118;REN74119;REN74120;REN74121;REN74122;REN74123;REN74124;REN74125;REN74126;REN74127;REN74128;REN74129;REN74130;REN74131;REN74132;REN74133;REN74134;REN74135;REN74136;REN74137;REN74138;REN74139;REN74140;REN74141;REN74142;REN74143;REN74144;REN74145;REN74146;REN74147;REN74148;REN74149;REN74150;REN74151;REN74152;REN74153;REN74154;REN74155;REN74156;REN74157;REN74158;REN74159;REN74160;REN74161;REN74162;REN74163;REN74164;REN74165;REN74166;REN74167;REN74168;REN74169;SHGC-81136;stSG602040;stSG602041;stSG602042;stSG602043;stSG602044;stSG602045;stSG602046;stSG602047;stSG602048;stSG602049;stSG602050;stSG602051;stSG602052;stSG602053;stSG602054;stSG602055;stSG602056;stSG602057;stSG602058;stSG602059;stSG602060;stSG602061;stSG602062;stSG602063;stSG602064;stSG602065;stSG602066;stSG602067;stSG602068;stSG602069;stSG602070;stSG602071;stSG602072;stSG602073;stSG602074;stSG602075;stSG602076 4E-T;Clast4;FLJ21601;FLJ26551 2610509L04Rik;OTTHUMP00000028884;OTTHUMP00000063275;OTTHUMP00000063276;OTTHUMP00000063277;eIF4E transporter;eIF4E-transporter;eukaryotic translation initiation factor 4E transporter APPROVED protein-coding ENSG00000184708 16687 10456 607445 REVIEWED 1347903 EIF4H eukaryotic translation initiation factor 4H This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 7 7 q11.23 73226642 73249365 + 73588706 73611429 + 1580597;1580863;6480464 8812460 19203580;9516461;12588972;18719248;18448541;16189514;16094384;16014927;15592455;15489334;15078951;12853948;12690205;12665801;12477932;11418588;11003705;10585411;7584028;7584026;21427765;20549515;19369421;19847924;20473909;22863883;22939629;20360068;21139048;21906983;22505724 7458 Q15056;Q75MU2 ABBA01063907;ABBA01063908;AC005057;AC005081;AF045555;AK290676;AK297651;AK314749;AMYH01017543;BC010021;BC021214;BC066928;CH471200;D26068;NG_008869;NM_022170;NM_031992 AAC04859;AAF75557;AAH10021;AAH21214;AAH66928;AAS07403;AAS07439;AAS07440;ABM82850;ABM86037;ABM86038;BAA05063;BAF83365;BAG60018;EAW69615;EAW69616;EAW69617;EAW69618;EAW69619;NP_071496;NP_114381;Q15056 Hs.520943 1668764;1685706;1723143;1790423;2112378;2189273 D7S3017E;D7S3283;RH123755;RH40639;SHGC-5607;Wbscr1 KIAA0038;WBSCR1;WSCR1;eIF-4H OTTHUMP00000160561;OTTHUMP00000160563;eIF-4H;eukaryotic translation initiation factor 4H;williams-Beuren syndrome chromosomal region 1 protein APPROVED protein-coding ENSG00000106682 12741 11940 603431 REVIEWED 1314591 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010] 3 3 q27-qter 185515050 185535840 + 184032283 184053146 + 6480464;6907045 10970864;10996799;12054647;14701818;15713657;8961935;9372926;8449919;15314020;9857202;19525934;19203580;19114555;18799579;18614538;18593934;18426977;18296639;17601486;17290396;17195095;17130132;17081983;16982693;16964243;16766523;16698552;16412378;16344560;16281055;16156639;15961545;15885108;15755734;15592455;15452223;15361857;15314025;15302935;15234964;15231748;15220445;15193258;15128869;15047801;14702039;14592777;12581158;12505164;12477932;12239292;12086624;12052860;11866104;11408474;11340157;11331597;11154262;10880459;10872469;10859165;10600798;10205060;9878069;9755181;9418880;9139875;9002667;8889548;8521827;8396129;7935836;7651417;7601469;1429670;14610163;12682023;12054764;11606767;18573886;16236269;16010989;12149653;16541103;16648488;10753870;17353931;12897141;11821405;22561553;15897904;10523622;12071973;15153109;16169070;16513844;16556936;18250159;19615732;19648179;19769989;19850929;19956697;20028737;20053821;16720573;20398343;22909319;22939629;21377182;23112151;21182205;22863883;23041282;21454508;21576361;21907011;20360068;21840318;21964297;23409027;22145905;19596686;21139048;21890473;21900206;21906983;22108332;23092605;23408866;23455922;23805307;22586326;16009940;17053147;17361185;22586265;22178476;22280895;22431630;21252943;15743837;21145461;22707335;23263986;17266347;19738201;21988832;22509910;22623428;23000965;18508616;18631141;22505724;22658323;22759308;22772876;19716330;23106098 1981 B2RU06;B2RU10;B4DSI9;C9J2Z7;C9J556;C9J6B6;C9J987;C9JF13;C9JHW9;C9JIH5;C9JSU8;C9JWH7;C9JWH9;C9JWW9;C9K073;E7EUU4;E7EX73;E9PGM1;F8WB97;F8WCF2;H7C044;H7C0V6;O95065;Q5HYG0;Q96I65 AB210013;ABBA01058448;ABBA01058449;AC078797;AF002815;AF002816;AF004836;AF104913;AF281070;AJ001046;AK096719;AK128378;AK131407;AK226160;AK294567;AK299763;AK308319;AL832754;AMYH01013717;AMYH01013718;AY082886;BC007788;BC010688;BC065256;BC082764;BC140892;BC140896;BM475154;BQ011010;BT007282;BU176883;BU683097;BU944064;BX647812;CH471052;CR980540;CX165113;D12686;DA456156;DB088474;DC347118;NG_016850;NM_001194946;NM_001194947;NM_004953;NM_182917;NM_198241;NM_198242;NM_198244 AAC78442;AAC78443;AAC78444;AAC82471;AAH07788;AAI40893;AAI40897;AAL92872;AAM69365;AAP35946;BAA02185;BAD18554;BAE06095;BAG57762;BAG61651;CAA04500;CAI46013;EAW78257;EAW78258;EAW78259;EAW78260;EAW78261;EAW78262;EAW78263;EAW78264;EAW78265;EAW78266;EAW78267;EAW78268;NP_001181875;NP_001181876;NP_004944;NP_886553;NP_937884;NP_937885;NP_937887;Q04637 Hs.433750 1337221;1676876;1745027;2130023;2217302;5117622 D3S3609;EIF4G1_3109;GDB:593083;GDB:593094;RH68199;RH79680 DKFZp686A1451;EIF4F;EIF4G;EIF4GI;P220;PARK18;eIF-4G 1;eIF-4G1 EIF4-gamma;OTTHUMP00000210577;OTTHUMP00000210579;OTTHUMP00000210583;OTTHUMP00000210585;OTTHUMP00000210586;OTTHUMP00000210587;OTTHUMP00000210588;OTTHUMP00000210589;OTTHUMP00000210595;OTTHUMP00000210602;OTTHUMP00000210603;OTTHUMP00000233293;OTTHUMP00000233411;eIF-4-gamma 1;eucaryotic translation initiation factor 4G;eukaryotic translation initiation factor 4 gamma 1 APPROVED protein-coding ENSG00000114867 3296 06774 600495;614251 REVIEWED 1313238 EIF4G2 eukaryotic translation initiation factor 4 gamma, 2 Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008] 11 11 p15 10775169 10787158 - 10818593 10830582 - 1580863;6480464;6907045 15302935;16166382;17353931;11943866;9032289;18722383;18491231;18450493;17237356;17195095;16932749;16410684;16344560;16289705;15718103;15489334;15361857;15016848;15231748;14702039;14507913;12703993;12665801;12505164;12477932;11511540;11331597;11175261;11172724;10611228;10394359;9878069;9372926;9049310;9027506;8125298;9418880;19615732;19769989;20057060;16751776;20544972;21145461;22909319;22939629;21139048;21890473;21906983;22505724 1982 D3DQV9;E9PKF8;H0Y3P2;H0YCF8;H0YCH5;H0YD77;H0YD99;H0YDC0;H0YE22;H0YE44;H0YE87;H0YEC5;H0YEI7;H0YEN8;H0YEW3;Q2TU89;Q58EZ2 AB063323;AB073654;AB209267;ABBA01061154;AC116535;AI362365;AK123338;AK223548;AK302886;AK310387;AK310738;AMYH01003391;AY513274;BC014930;BC018746;BC018975;BC039851;BC043149;BC065276;BC111415;BC111548;BX647799;CH471064;DB072494;DB231980;DB272352;NM_001042559;NM_001172705;NM_001418;U73824;U76111;X89713 AAB49973;AAC51166;AAH14930;AAH18746;AAH18975;AAH39851;AAH43149;AAH65276;AAI11416;AAI11549;AAT08027;BAB93515;BAD92504;BAD97268;BAE45728;BAG64064;CAA61857;EAW68552;EAW68553;EAW68554;EAW68555;NP_001036024;NP_001166176;NP_001409;P78344 Hs.183684 1737101;1739201;1791258;1795762;2150742;5491705;5493902 D11S2865;D11S3958;EIF4G2_325;Eif4g2;MARC_8851-8852:992359168:1;MARC_8853-8854:992364778:1;STS-AA009836 AAG1;DAP5;FLJ41344;NAT1 DAP-5;OTTHUMP00000231076;OTTHUMP00000231227;OTTHUMP00000231228;OTTHUMP00000231229;aging-associated protein 1;death-associated protein 5;eIF-4-gamma 2;eIF-4G 2;eIF4G 2;eukaryotic translation initiation factor 4 gamma 2;eukaryotic translation initiation factor 4G-like 1 APPROVED protein-coding ENSG00000110321 3297 09084 602325 REVIEWED 1343057 EIF5AL2 eukaryotic translation initiation factor 5A-like 2 414248 31441 1322792 EIF4G3 eukaryotic translation initiation factor 4 gamma, 3 1 1 p36.12 21005559 21375927 - 21132785 21503381 - 1580863;6480464;6907045 9418880;15361857;17353931;17081983;16964243;15489334;15016848;14507913;12975586;12663812;12477932;11172724;10872469;10737800;10022874;9878069;9857202;8125298;15146197;16344560;19615732;20379614;21182205;22939629;22990118;21139048;21890473;21906983;21900206;22586326;18654987;22505724 8672 B1AN89;B1AN91;B1AN92;B4DXR2;F5H564;F5H8J4;O43432;Q504Z1;Q59GJ0;Q5SWD0;Q5SWD1 AB209119;ABBA01059796;ABBA01059797;ABBA01059798;ABBA01059799;ABBA01059800;ABBA01059801;ABBA01059802;ABBA01059803;ABBA01059804;AF012072;AK225489;AK294883;AK302087;AK302873;AK310195;AL031005;AL358392;AL606477;AL627311;AL672037;AMYH01000325;AMYH01000326;AMYH01000327;AMYH01000328;AMYH01000329;AMYH01000330;BC030578;BC072413;BC094683;BC136643;BC144335;BE159364;BF084093;CH471134;CN402454;DB042721;DB096818;HI574178;NM_001198801;NM_001198802;NM_001198803;NM_003760;Z34918 AAC02903;AAH30578;AAH94683;AAI36644;BAD92356;BAG57978;BAG63474;BAG64053;CAA84397;CBX47578;EAW94954;EAW94955;EAW94956;NP_001185730;NP_001185731;NP_001185732;NP_003751;O43432 Hs.467084;Hs.732241 1662548;1665105;1674531;1683229;1687421;1693534;1702264;1702404;1720741;1732824;1756319;1765693;1769649;1772443;1773025;1795764;1850236;1858277;2125745;2127061;2182663;2185372 AL009398;AL010001;D1S1269;EIF4G3_1535;G29258;G59344;RH11036;RH75500;RH80398;SHGC-143302;SHGC-149132;SHGC-34622;SHGC-58447;SHGC-74327;SHGC-74329;SHGC-74335;SHGC-74336;SHGC-74337;SHGC-74345;SHGC-74355;UniSTS:99222;UniSTS:99311 eIF-4G 3;eIF4G 3;eIF4GII OTTHUMP00000002722;OTTHUMP00000002723;eIF-4-gamma 3;eIF-4-gamma II;eukaryotic translation initiation factor 4 gamma 3 protein-coding ENSG00000075151 3298 06802 603929 VALIDATED 1350217 EIF5AP2 eukaryotic translation initiation factor 5A pseudogene 2 17 17 17 q25.3 72749841 72751617 + 73665378 73665936 + 76153440 76155216 + 7759117;7545941 1986 ABBA01002942;AC021593;AMYH01008663;NG_002746;S72038 pseudo 3303 INFERRED 1343249 EIF5AP3 eukaryotic translation initiation factor 5A pseudogene 3 19 19 19 q13.2 42436065 42436622 + 50323623 50324180 + 45631783 45632340 + 7759117;7545941 1987 ABBA01040912;AC011489;AMYH01009848;NG_002725;S72026 pseudo 3304 INFERRED 1317562 EIF5A eukaryotic translation initiation factor 5A 17 17 p13-p12 7151693 7156498 + 7210318 7215782 + 6480464 15303967;9285100;15371445;1850732;14622290;17187778;9465063;12210765;10381392;16452303;8596953;7759117;19379712;19160416;18067580;17213197;17008552;16987817;16916647;16842744;16522190;16519677;16371467;15489334;15231747;12894223;12788913;12687616;12562768;12477932;11870779;11790298;11742107;11238447;11161802;10944119;10229683;9442029;9285095;8253832;8125298;7971969;7929297;7622067;7578077;7545941;3095320;2492279;1900436;1286667;16354571;19825182;20232312;16712791;19998337;20942800;21224998;21145461;23383273;20830705;22908221;22863883;22927971;22939629;20639865;21139048;21693764;21778671;21890473;21906983;21942715;18781797;20360068;21565611;21963094;22304920;23000965;23132580;23322277;19322201;21628590;21360055;19471022;22354994;16515720;17578650;19149558;22053931;22505724;22771473;22944692 1984 AAB29229;I3L397;I3L504;P63241 ABBA01054859;ABBA01054860;AC026954;AF087992;AF376057;AK222585;AK292615;AMYH01008077;AMYH01008078;AY129319;AY129320;AY129321;AY129322;BC000751;BC001832;BC030160;BC080196;BC085015;BC107779;BG479628;CB111036;CH471108;M23419;NM_001143760;NM_001143761;NM_001143762;NM_001970;U17969 AAA58453;AAA86989;AAB29229;AAH00751;AAH01832;AAH30160;AAH80196;AAH85015;AAI07780;AAL40917;AAN17514;AAN17515;AAN17516;AAN17517;AAN17518;ABM83199;ABM86400;BAF85304;EAW90219;EAW90220;EAW90221;EAW90222;NP_001137232;NP_001137233;NP_001137234;NP_001961;P63241 Hs.534314 5016702;5124500 RH39404;RH67341 EIF-5A;EIF5A1;MGC104255;MGC99547;eIF5AI OTTHUMP00000128384;eIF-4D;eIF-5A-1;eIF-5A1;eukaryotic initiation factor 5A;eukaryotic translation initiation factor 5A-1;rev-binding factor protein-coding ENSG00000132507 3300 02555 600187 VALIDATED 1345697 EIF5AP4 eukaryotic translation initiation factor 5A pseudogene 4 10 10 q23.1 81996955 81997419 - 82006775 82007553 - 642592 ABBA01003804;AL359195;AL513174;AMYH01002882;NG_006529 5108870 D10S680 EIF5AL3 APPROVED pseudo 31442 INFERRED 1344071 EJM1 epilepsy, juvenile myoclonic 1 7240710 1988 3305 254770;607631 1349631 EJM2 epilepsy, juvenile myoclonic 2 7240710 9259280 50715 1336480;1341048;7187524;7187979 D15S118;D15S144 3306 1345242 EKV erythrokeratodermia variabilis 9843209 1989 3307 1314674 EIF5A2 eukaryotic translation initiation factor 5A2 3 3 q26.2 172088898 172109120 - 170606204 170626426 - 1580863;6480464 14622290;16452303;11161802;19298601;19155439;19054548;17949776;17876542;16916647;16519677;16189514;16169419;15635413;15489334;15205331;12477932;11325856;21145461;21319273;20112425;22927971;20434207;21903422;21942715;21906983;21628590;21813470;22505724 56648 C9J4W5;C9J7B5;F8WCJ1;Q9GZV4 ABBA01058670;AC061708;AF293386;AF293387;AK311962;AMYH01013646;AY205258;AY205259;AY205260;AY205261;BC034420;BC036072;CH471052;NM_020390 AAG23176;AAH36072;AAO18676;AAO18677;AAO18678;AAO18679;ABM81891;ABM85064;BAG34902;EAW78501;NP_065123;Q9GZV4 Hs.164144 1677818;1717395;1795766;2121784;2142015;5022578;5109281 D1S1423;D1S1425;EIF5A2_327;RH122188;RH93402;SHGC-77528;SHGC-77529 EIF-5A2;eIF5AII OTTHUMP00000213742;OTTHUMP00000213744;OTTHUMP00000213745;eIF-5A-2;eukaryotic initiation factor 5A;eukaryotic translation initiation factor 5A-2 protein-coding ENSG00000163577 3301 10426 605782 VALIDATED 736122 EIF5 eukaryotic translation initiation factor 5 Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010] 14 14 q32.32 102870246 102881115 + 103800339 103811362 + 1580863;6480464 8663286;17081983;16781736;16584190;16227438;15489334;14702039;12569173;12477932;11861906;11331597;11230166;11092890;10982835;10805737;9973622;9395514;17207965;20562859;21832049;22863883;22939629;22062548;19953087;21139048;21890473;21906983;18029348;22813744;19738201;21963094;21988832;23293029;23222517 1983 H0YK11;H0YK29;H0YLZ1;H0YM54;H0YMJ8;H0YN40;P55010;Q6IBU0 ABBA01048430;ABBA01048431;AK026933;AK027240;AK074470;AK293712;AL080102;AL138976;AMYH01006045;BC000106;BC007728;BC015630;BC032866;BC041083;BC107884;BF979642;BI459720;BX429104;BX537367;CH471061;CR456712;CR627002;DB458085;NM_001969;NM_183004;U49436 AAC50572;AAH07728;AAH15630;AAH32866;AAI07885;ABM84408;ACE86854;ACE87541;ADQ32772;BAB15593;BAG57144;CAB45711;CAD97610;CAG32993;EAW81808;EAW81809;EAW81810;EAW81811;NP_001960;NP_892116;P55010 Hs.433702;Hs.741278 1645041;1671999;1675047;1722071;1736386;2150710;2162871;2164953;2175863;5016834;5494201 A008J11;D14S1233;D14S640E;D14S692E;D14S908;Eif5;G60074;RH44070;RH48354;WI-18248;WI-19954 EIF-5;EIF-5A eIF-5;eukaryotic initiation factor 5 (eif-5);eukaryotic translation initiation factor 5 APPROVED protein-coding ENSG00000100664 3299 03417 601710 VALIDATED 1353172 EIF5AP1 eukaryotic translation initiation factor 5A pseudogene 1 10 q23.3 81262290 81262832 + 16916647;16519677;15489334;11742107;10944119;8253832;7759117;7622067;7545941;3095320;2492279;1286667 1985 AC068139;AL133481;NG_000859;S72024 AAD14095 pseudo 3302 1352580 EIF5AL1 eukaryotic translation initiation factor 5A-like 1 10 10 q22.3 80942363 80946202 + 81272357 81276196 + 16916647;16519677;15489334;12477932;11742107;10944119;8253832;7759117;7622067;7545941;3095320;2492279;1286667;21906983;22505724 143244 Q6IS14 ABBA01020208;ABBA01020209;AC068139;AL133481;AMYH01002860;BC070048;NM_001099692;S72024 AAD14095;AAH70048;NP_001093162;Q6IS14 Hs.741635 5016702;5108870;5124495;5124500 D10S680;RH39404;RH67341;RH93153 EIF5AP1;bA342M3.3 OTTHUMP00000227584;eIF-5A-1-like;eIF-5A1-like;eukaryotic initiation factor 5A isoform 1-like;eukaryotic translation initiation factor 5A pseudogene 1;eukaryotic translation initiation factor 5A-1-like protein-coding ENSG00000253626 17419 VALIDATED 1353401 EIF5B eukaryotic translation initiation factor 5B Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008] 2 2 q11.2 99320266 99383160 + 99953834 100016728 + 1580863;6480464 21145461;12569173;10432305;10200264;18572216;17568775;17161026;17081983;16964243;16097034;15302935;14702039;12514125;12477932;11699879;9872452;8621719;20562859;20211142;22939629;21697471;19135240;21151833;22586326;17361185;22108332;21139048;21890473;21907836;21926972;22863883;22990118 9669 O60841;Q8N5A0 AB018284;ABBA01073946;ABBA01073947;ABBA01073948;AC018690;AC079447;AF078035;AJ006412;AJ006776;AK001386;AK308175;AK308176;AL133563;AMYH01010805;BC006970;BC022260;BC032639;BX485839;CH471127;NM_015904 AAD16006;AAH06970;AAH22260;AAH32639;AAX93258;AAY24313;BAA34461;BAG50898;CAA07018;CAB44357;CAB63717;EAX01864;EAX01865;EAX01866;EAX01867;NP_056988;O60841 Hs.158688 1647931;1652452;1666151;1710872;1719203;2126311;2138904;2178007;2185658;5021187 A007F15;D2S2085;RH123320;RH36408;RH41971;RH45200;RH46976;RH65673;SHGC-56859;SHGC-84214 DKFZp434I036;FLJ10524;IF2;KIAA0741 OTTHUMP00000203504;eIF-5B;eukaryotic translation initiation factor 5B;translation initiation factor IF-2;translation initiation factor IF2 APPROVED protein-coding ENSG00000158417 30793 07304 606086 REVIEWED 1317469 ELANE elastase, neutrophil expressed Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, May 2009] 19 19 p13.3 803291 807246 + 852291 856246 + 1598891;1580863;6480464;6907045;7240710 10581030 14705961;12393522;15140022;12223522;14730209;15010259;11928814;12114510;19590686;19542452;19415009;19197381;19180801;19132232;18980523;18799464;18710383;18669870;18485588;18403643;18399311;18295791;18278188;18211966;18178964;18043239;18028488;17998887;17853021;17785837;17761833;17690184;17622939;17436313;17412886;17397908;17395013;17187068;17088257;17023068;16690986;16670064;16624642;16551967;16321984;16282197;16244764;16148149;16127146;16079102;15941909;15892999;15718918;15657182;15614130;15601827;15595387;15489334;15245434;15161642;15131125;15059607;14962902;14688365;14673143;14636558;14587040;12934194;12893759;12887060;12876407;12853121;12782302;12778173;12771009;12745650;12700588;12538645;12531874;12526812;12483111;12477932;12444202;12190311;12183836;12117418;12091371;12083479;12068293;12042033;12020136;11948122;11846296;11675333;11520773;11389039;11001877;10924364;10867014;10859319;10702419;10512713;10471600;10102815;9565572;9242537;9124593;9111002;8864963;8718849;8463250;8011628;7713495;7521069;6980881;3640709;3550808;3479752;3427074;3422232;3391280;2911584;2902087;2822677;2775493;2681419;2538548;2501794;2462434;2437112;2322278;2318847;2164060;1859409;1558967;1518849;12933574;20582973;20354035;21236472;10978167;11907569;18194283;19251947;19307610;19362143;19506020;19620298;19620402;19763368;19775295;19789190;20007580;20179351;20346360;20423453;20646231;21193404;20033193;20627279;20411049;20453419;20634941;20828556;20111696;20883273;20376727;20974816;20932306;18476621;20521180;20803142;21206270;23001948;22918834;21448199;21425445;21477798;22915586;22993338;21731773;21475777;21488974;21605276;21576245;21843618;12189154;23564510;22174830;21796505;22500123;20301705;22683569;22407864;23692169 1991 P08246 ABBA01002604;AC004799;AC112706;AMYH01009205;AY596461;BC074816;BC074817;BI254663;CH471139;D00187;J03545;M20199;M20200;M20201;M20202;M20203;M27783;M34379;NG_009627;NM_001972;X05875;Y00477 AAA35792;AAA36173;AAA36359;AAA52378;AAH74816;AAH74817;AAS89303;BAA00128;CAA29299;CAA29300;CAA68537;EAW69589;NP_001963;P08246 Hs.99863 2174984;2174986 RH47200;RH77978 ELA2;GE;HLE;HNE;NE;PMN-E;SCN1 PMN elastase;bone marrow serine protease;elastase 2, neutrophil;elastase-2;granulocyte-derived elastase;human leukocyte elastase;leukocyte elastase;medullasin;neutrophil elastase;polymorphonuclear elastase APPROVED protein-coding ENSG00000197561 3309 00554 130130;162800;202700 REVIEWED 1312386 ELAC1 elaC ribonuclease Z 1 18 18 18 q21 45351172 45371275 + 46748385 46768488 + 48494387 48514490 + 1580863;6480464 22610502;18573253;15489334;14702039;12711671;12477932;11401430;11175785;8125298;21559454 55520 K7EIJ1;K7EPH7;Q9H777 AB029151;ABBA01018682;AC087687;AF308695;AI870985;AK024822;AK223507;AK310911;AMYH01008999;BC014624;CH471096;NG_013013;NM_018696 AAG24917;AAH14624;ABM83711;ABM87031;BAA96799;BAB15021;BAD97227;EAW62983;EAW62984;NP_061166;Q9H777 Hs.657360 1677434;1734542;2107037;2187525 D18S897E;ELAC1__7576;RH45926;SGC38219 D29;FLJ59261 OTTHUMP00000163547;RNase Z 1;RNaseZ(S);deleted in Ma29;elaC homolog 1;elaC homolog protein 1;ribonuclease Z 1;tRNA 3 endonuclease 1;tRNA 3' processing endoribonuclease;tRNA Z (short form);tRNase Z 1;tRNase ZS;zinc phosphodiesterase ELAC protein 1 APPROVED protein-coding ENSG00000141642 14197 16275 608079 VALIDATED 1313362 EIF6 eukaryotic translation initiation factor 6 Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 20 20 q12 33330139 33336008 - 33866709 33872619 - 1580863;6480464;6907045 15231747;17353931;9374518;18391951;17569113;17507929;16530192;16169070;15635413;15592455;15489334;15122657;14654845;12917340;12477932;11790298;11780052;11290417;11042152;10348637;10085284;9740680;9653160;9405604;10906324;15946946;21145461;20546612;18327211;20585627;21832049;22939629;21084295;21029697;21536732;23115272;22863883;22990118;22295858;22365962;22348144;22586326;18624398;18781797;21139048;21900206;21903422;22178446;21628590;22415777;15146197;16341674;18029348;19738201;21963094;21988832 3692 B7ZBH1;F8WD20;F8WDS6;P56537 AB062289;ABBA01019165;AF022229;AF047433;AF289541;AF401207;AK296076;AK314969;AL121753;AL537456;AMYH01011874;BC001119;BC011845;BC019305;BC095465;BG283650;BG334381;BM794263;BM851166;BQ222221;CH471077;CN265282;CR456764;CS072464;CT002623;DB448068;NG_023238;NM_001267810;NM_002212;NM_181466;NM_181468;NR_052022;NR_052023;NR_052024;Y11435 AAB97735;AAC39897;AAH01119;AAH11845;AAH19305;AAK39426;ABM83518;ABM86737;BAB93472;BAG37470;BAG58832;CAA72243;CAG33045;CAI93602;EAW76219;EAW76220;EAW76221;NP_001254739;NP_002203;NP_852131;NP_852133;P56537 Hs.743992 1771904;1800446;1803862;1805564;1808854;1810232;1844670;1972414;1972416;1972418;1972420;1972422;1972424;1972426;1972428;1972430;1972432;1972434;1972436;1972438;1972440;1972442;1972444;1972446;1972448;1972450;1972452;1972454;1972456;1972458;1972460;1972462;1972464;1972466;1972468;1972470;1972472;1972474;1972476;1972478;1972480;2133314;2215030;2215032;2215034;2215036;2215038;2215040;2215042 D20S461;ECD01083;ECD02843;ECD03730;ECD05410;ECD06108;ECD23549;REN57092;REN57093;REN57094;REN57095;REN57096;REN57097;REN57098;REN57099;REN57100;REN57101;REN57102;REN57103;REN57104;REN57105;REN57106;REN57107;REN57108;REN57109;REN57110;REN57111;REN57112;REN57113;REN57114;REN57115;REN57116;REN57117;REN57118;REN57119;REN57120;REN57121;REN57122;REN57123;REN57124;REN57125;SHGC-32768;stSG636500;stSG636501;stSG636502;stSG636503;stSG636504;stSG636505;stSG636506 2;CAB;EIF3A;ITGB4BP;b;b(2)gcn;eIF-6;gcn;p27(BBP);p27BBP B4 integrin interactor;OTTHUMP00000030734;OTTHUMP00000061360;OTTHUMP00000061361;b(2)GCN homolog;eIF-6;eukaryotic translation initiation factor 3A;eukaryotic translation initiation factor 6;p27 beta-4 integrin-binding protein;p27(BBP) APPROVED protein-coding ENSG00000242372 6159 04221 602912 REVIEWED 1342597 ELAC2 elaC ribonuclease Z 2 The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 p11.2 12836427 12862084 - 12894929 12921381 - 6480464 17353931;18767027;18375959;17145810;17081983;16636667;16114055;15824169;15714208;15593091;15489334;15368467;14719475;14702039;14625808;14504198;12949798;12783937;12711671;12700765;12569551;12552947;12522685;12515253;12477932;12384782;12373607;11522646;11507049;11431329;11281413;11254449;11254448;11175785;10986046;8889548;16169070;21145461;20565774;18421255;19555350;19751732;20086112;20119870;20231859;20877624;22863883;21559454;19471022;21593607;21963094;18781797;21693764;21857155;21890473;21906983;22505724 60528 E7ES68;G5E9D5;H7C2I4;J3QL08;J3QLK4;J3QQT1;J3QRS2;Q9BQ52 AA706335;ABBA01055013;ABBA01055014;AC005277;AF304369;AF304370;AF304371;AK001392;AK074244;AK094012;AK094333;AK094687;AK124838;AK125030;AK298397;AK300011;AK304589;AMYH01008121;BC001939;BC004158;BC046924;CB241821;CH471108;CR457261;DB455960;DC394013;DC411088;NG_015808;NM_001165962;NM_018127;NM_173717 AAG24439;AAG24440;AAG24441;AAH01939;AAH04158;ADZ15517;BAC85964;BAC86026;BAG52861;BAG52912;BAG60631;BAG61827;BAG65377;CAG33542;EAW89961;EAW89962;EAW89963;EAW89964;NP_001159434;NP_060597;NP_776065;Q9BQ52 Hs.434232 1652440;1677102;1694438;1718695;1722391;1736636;1852621;5015961;5022322;5037552 D11S2560;D15S1477;D17S1477E;D8S2279;G42927;G60268;RH123038;RH18245;RH45714;STS-D29176 ELC2;FLJ10530;FLJ36693;FLJ42848;HPC2 OTTHUMP00000064669;OTTHUMP00000064670;RNase Z 2;elaC homolog 2;elaC homolog protein 2;heredity prostate cancer protein 2;putative prostate cancer susceptibility protein HPC2/ELAC2;ribonuclease Z 2;tRNA 3 endonuclease 2;tRNase Z (long form);tRNase Z 2;zinc phosphodiesterase ELAC protein 2 2293362;2293416;2301719 PRSTS280_H;PRSTS282_H;PRSTS419_H APPROVED protein-coding 14198 05641 605367;614731 REVIEWED 1626593 ELF2P1 E74-like factor 2 pseudogene 1 X X X q22.2 103599077 103602018 - 103050004 103052942 - 103163345 103166286 - 9001422 100101917 ABBA01032853;ABBA01032854;AC234782;AMYH01022799;NG_006555;Z70273 pseudo 33539 INFERRED 1626562 ELF2P2 E74-like factor 2 pseudogene 2 6 6 6 p25.3 2741304 2744211 - 1458740 1460948 - 1512576 1515817 - 9001422 260335 ABBA01048647;ABBA01048648;AF256220;AL512329;AMYH01016018;NG_002340 1766195;1766317;2107045 ELF2__7580;SHGC-149560;SHGC-149664 pseudo 24610 INFERRED 1626561 ELF2P3 E74-like factor 2 pseudogene 3 9 9 q21 89621211 89624185 + 90431389 90434369 + 9001422 260336 ABBA01016328;AL772337;AMYH01021479;NG_002341 FLJ35866 pseudo 24611 INFERRED 1626543 ELF2P4 E74-like factor 2 pseudogene 4 2 2 2 q32.1 180006191 180008286 - 186118694 186120790 - 186410450 186412545 - 9001422 644935 ABBA01062326;AC080125;AMYH01011329;NG_006556 pseudo 33540 INFERRED 1314763 ELAVL2 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 9 9 p21 23680102 23816063 - 23690102 23826063 - 1580863;6480464 15164053;12477932;10848602;8907704;8812435;7972035;8158249;18607064;15671036;15489334;12384599;17289661;19197348;20211142;20818722;21145461;21319273;21139048;21890473;21628590;22053931 1993 B1AM48;B1AM49;C9JB16;Q12926 AB209294;ABBA01065154;ABBA01065155;AL161628;AL445623;AMYH01019278;BC030692;BC035004;BC042393;CH471071;NG_016425;NM_001171195;NM_001171197;NM_004432 AAH30692;ABM82543;ABM85735;ABW03448;BAD92531;EAW58581;EAW58582;EAW58583;EAW58584;EAW58585;EAW58586;NP_001164666;NP_001164668;NP_004423;Q12926 Hs.166109 1709094;1712563;1729027;1761963;1848613;2107039;2113244;2113246;2168973;5492311 D9S1966;D9S2020;D9S2139;D9S2140;ELAVL2__7577;Elavl2;Elavl4;SHGC-145897;SHGC-85698;U29088 HEL-N1;HELN1;HUB ELAV-like neuronal protein 1;ELAV-like protein 2;OTTHUMP00000021157;OTTHUMP00000021158;OTTHUMP00000021159;OTTHUMP00000021160;hu-antigen B;nervous system-specific RNA-binding protein Hel-N1 APPROVED protein-coding ENSG00000107105 3313 03396 601673 REVIEWED 1348119 ELAVL4 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 1 1 p34 50347225 50439648 + 50513686 50667540 + 1580863;6480464 12388589;12235292;12209604;12034726;11803489;11175903;9065557;8222755;8069866;2166930;1415481;1655278;10848602;10348344;19410329;19252764;18607064;18587682;18493953;18218628;17577668;17234598;17230446;16710414;16508003;16278682;16189514;15827745;15735910;15358174;14512168;12477932;12468554;21110914;10710437;12384599;21282516;23618873;21491091;22387028;21890473;21988832;23251661 1996 B1APY8;B1APY9;P26378 ABBA01050787;ABBA01050788;ABBA01050789;AK297338;AK298817;AK298902;AK309653;AL583843;AL592182;AL645730;AL731870;AMYH01000603;AW950943;AY033995;AY033996;AY033997;AY033998;BC036071;CH471059;DB472040;DC351092;M62843;NM_001144774;NM_001144775;NM_001144776;NM_001144777;NM_021952;S73887 AAA58396;AAD14142;AAH36071;AAK57538;AAK57539;AAK57540;AAK57541;BAH12553;BAH12876;BAH12899;EAX06841;EAX06842;EAX06843;EAX06844;EAX06845;NP_001138246;NP_001138247;NP_001138248;NP_001138249;NP_068771;P26378 Hs.213050 1657431;1704310;1708792;1723279;1739299;2107043;2123931;2130863;2173016 AL009479;AL009829;D1S1559;D1S2299E;ELAVL4__7579;RH122329;SHGC-74804;SHGC-81055;SHGC-83296 HUD;PNEM ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);ELAV-like protein 4;Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4;Hu antigen D;OTTHUMP00000009609;OTTHUMP00000009610;OTTHUMP00000009611;OTTHUMP00000009612;OTTHUMP00000009613;OTTHUMP00000009614;hu-antigen D;paraneoplastic encephalomyelitis antigen HuD APPROVED protein-coding ENSG00000162374 3315 01343 168360 VALIDATED 1343972 ELAVL3 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 11456881 11486541 - 11423143 11452803 - 11562143 11591803 - 1580863;6480464 16189514;15489334;12477932;12209604;10848602;10079173;9799595;7511893;10710437;12384599;21163940;22318606;21110914 1995 K7EPB5;Q14576 ABBA01029847;ABBA01029848;ABBA01029849;ABBA01029850;ABBA01029851;ABBA01029852;AC008481;AI199100;AL512714;AMYH01009485;AMYH01009486;AY034002;AY036909;BC011875;BC014144;BC080533;BI117592;CH471106;D26158;L26405;NM_001420;NM_032281 AAA58677;AAH11875;AAK57545;AAK67714;BAA21838;CAC21655;EAW84220;EAW84221;NP_001411;NP_115657;Q14576 Hs.1701 1748577;2107041;2116072;2124015;2181767 ELAVL3__7578;RH15993;RH36000;SHGC-110240;STS-H49435 DKFZp547J036;HUC;HUCL;MGC20653;PLE21 ELAV-like protein 3;Hu antigen C;hu-antigen C;paraneoplastic cerebellar degeneration-associated antigen;paraneoplastic limbic encephalitis antigen 21 APPROVED protein-coding ENSG00000196361 3314 16024 603458 REVIEWED 1318543 ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012] 19 19 p13.2 7929457 7976529 - 8023457 8070529 - 1580863;6480464 22371495;15231747;10660597;9003489;19574298;19420963;19322201;19289500;19281587;19255485;19252527;19221430;19151756;19114552;19109971;19106619;19088191;19056930;19010922;19009247;18991684;18986664;18831511;18824170;18769129;18705402;18650551;18648668;18644987;18641687;18593881;18579691;18544151;18505733;18498284;18490444;18463097;18449856;18408768;18317686;18285462;18279945;18202756;18180367;18095988;18094611;18027256;17967866;17878526;17626845;17599736;17581403;17548472;17534146;17531241;17517897;17392515;17317627;17237228;17178712;17132932;17081983;16990552;16935932;16912169;16890199;16820934;16788138;16581801;16494882;16484227;16455966;16289864;16135804;16109718;15914670;15824116;15635413;15514971;15489334;15371446;15342649;15328200;15257295;15175342;15037768;14981256;14981248;14715706;14702039;14562043;14559993;14530362;14517288;14517280;12933794;12855701;12821781;12730239;12477932;12431987;12242302;12237300;12011088;11971974;11834731;11729309;11018049;10848602;10629032;10079173;8889548;8626503;15861128;10964780;22212710;20421296;20587520;19913121;20628086;20675370;20696395;17643375;19029303;19520857;19528229;19647848;19648294;19671677;19805546;19875930;19917608;19931428;20018854;20086103;20102719;20219472;20219773;20351266;20353946;20370918;20889954;20739277;20951677;19728080;20724828;16159877;20626035;20459669;22318606;22354994;22436134;22446626;22586326;20332213;20692039;21152064;21220697;21627034;16170373;21145461;21273615;20960565;20305372;21102524;21317874;22906436;22907529;22921787;23052832;21163940;22576182;22939629;21206905;21310943;17932509;19561594;22562506;21161467;21343335;21596928;21768308;21443519;21498545;21543858;21613615;23028944;23115237;22674407;21859890;22915590;21503589;16196087;20000738;21723170;21723171;21795698;15848144;21862584;21890634;21971048;21139048;21890473;21906983;21935886;21963094;18781797;21858080;22178446;23455922;23519412;16009940;21046284;21646354;22426177;21572400;22086295;17332742;22368252;22049153;22086907;22095636;22258704;22445740;22362742;17486080;19379695;19738201;21988832;22365833;22810585;23000965;23151878;23176121;22983828;23223443;23269677;23376935;23398456;23430747;23618873;23394580;23401122;22310293;18051367;19750561;21994574;22053931;22505724;22829587;23155001;23127556 1994 B4DVB8;M0QZR9;M0R055;Q15717 ABBA01010872;ABBA01010873;AC008975;AC010336;AI375368;AK022334;AK096659;AK301013;AL713686;AMYH01009419;AW139417;BC003376;BM664469;BM696191;BT009793;BU542524;BX647856;CH471139;JA327536;NM_001419;U38175;W37464 AAB41913;AAH03376;AAP88795;ABW03336;ABW03681;BAG62630;CCA78939;EAW68949;EAW68950;NP_001410;Q15717 Hs.184492;Hs.713744 1646405;1669947;1733372;1739907;2138872;2148434;2165807;5037552 A002T18;A002V04;D17S1185;D19S1135;D19S847;D8S2279;NIB1428;SHGC-34332 ELAV1;HUR;Hua;MelG ELAV-like protein 1;Hu antigen R;embryonic lethal, abnormal vision, drosophila, homolog-like 1;hu-antigen R APPROVED protein-coding ENSG00000066044 3312 16025 603466 REVIEWED 1642766 ELFN1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 7 7 7 p22.3 1716916 1755717 + 1750483 1754116 + 1748798 1787590 + 6480464 19389623;17868438;21139048 392617 P0C7U0 AACC02000053;ABBA01039353;AC074389;AI962473;AMYH01016965;BF434584;CH236953;CH471144;DR001365;NM_001128636 EAW87217;NP_001122108;P0C7U0 Hs.42896 1677981;1682736;1698206;2122407 RH102639;RH48889;RH69569;RH91931 PPP1R28 extracellular leucine-rich repeat and fibronectin type III containing 1;extracellular leucine-rich repeat and fibronectin type III domain containing 1;extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1;protein ELFN1;protein phosphatase 1 regulatory subunit 28;protein phosphatase 1, regulatory subunit 28 APPROVED protein-coding ENSG00000225968 33154 614964 VALIDATED 734281 ELF1 E74-like factor 1 (ets domain transcription factor) This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] 13 13 q13 40404164 40454418 - 41506055 41593508 - 1580863;6480464 10207087;1527846;14970218;18029348;18714041;18378679;18314487;17652178;16964243;16464244;15302935;14702039;12727645;12477932;11884456;11210123;10976766;10377039;9668064;9524226;8756667;8493578;7862168;1545787;9094628;19624906;20600580;18692240;19822898;20379614;21044949;19674970;21867680;22318606;20346215;20972266;21811762;21931859;19471022;21890473;23266558;23273568;22505724 1997 P32519;Q5T9E7;Q6MZZ4 ABBA01021283;ABBA01021284;ABBA01021285;ABBA01021286;AK095466;AK304289;AL157877;AMYH01005059;AMYH01005060;AMYH01005061;BC010575;BC030507;BQ722965;BX640798;CH471075;DC418141;M82882;NM_001145353;NM_172373 AAH30507;ABM82635;ABM85812;BAG53061;BAG65147;CAE45881;EAX08640;EAX08641;NP_001138825;NP_758961;P32519 Hs.135646 1656342;1663004;1665022;1684888;1849142;2119654;2154942 D13S307;G17772;RH44562;RH46566;RH68759;SGC34734;STS-M82882 ETS-related transcription factor Elf-1;OTTHUMP00000018310 APPROVED protein-coding ENSG00000120690 3316 01808 189973 REVIEWED 4144514 ELK1P1 ELK1, member of ETS oncogene family pseudogene 1 7 7 7 p12.3 45529943 45530608 - 45397597 45398262 - 45431072 45431737 - 647102 AACC02000110;ABBA01058249;AC073968;AMYH01017222;CH236960;NG_006972 EAL23742 pseudo 39021 INFERRED 1321579 ELF2 E74-like factor 2 (ets domain transcription factor) 4 4 4 q28 137311010 137392749 - 140198321 140280056 - 139978871 140060606 - 6480464 14970218;8756667;18029348;18754678;18544453;17368566;15489334;15302935;12477932;12447867;11967990;10207087;9001422;17290288;20211142;21832049;20805357;21693764;21906983;19322201;19471022;22505724 1998 B7Z720;D6R9B1;D6RGD9;D6RHI1;E9PCX3;Q15723 ABBA01069945;ABBA01069946;ABBA01069947;AC024032;AC093602;AF256221;AF256222;AF256223;AK301307;AK303782;AK316455;AMYH01014568;AMYH01014569;BC034951;BC065025;BI770157;BQ221720;CH471056;DQ359746;DR000047;NM_001276457;NM_001276458;NM_001276459;NM_006874;NM_201999;U43188;U43189 AAB37759;AAB37760;AAB37761;AAF67195;AAF67196;AAH34951;AAH65025;ABD15131;ABM81796;ABM84952;BAH13456;BAH14050;BAH14826;EAX05123;EAX05124;EAX05125;EAX05126;NP_001263386;NP_001263387;NP_001263388;NP_006865;NP_973728;Q15723 Hs.634040 1338041;1675903;1676892;1688261;1766195;1769601;1850384;2107045 D2S1238;ELF2__7580;RH18408;RH91402;RH93045;SHGC-149560;SHGC-67356;SHGC-67623 EU32;NERF;NERF-1A;NERF-1B;NERF-1a,b;NERF-2 ETS-related transcription factor Elf-2;OTTHUMP00000164540;OTTHUMP00000164541;OTTHUMP00000220051;OTTHUMP00000220053;ets family transcription factor ELF2C;new Ets-related factor protein-coding ENSG00000109381 3317 16856 VALIDATED 1343176 ELK2BP ELK2B, member of ETS oncogene family, pseudogene 14 14 14 q32.33 86063134 86070909 - 105081374 105088242 - 106010329 106017197 - 10231026;9795224 9995 AF080618;AL928742;AMYH01006084;NG_001019 ELK2.2;ELK2P2 APPROVED pseudo 3324 VALIDATED 1321734 ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 1 1 q32.2 200243696 200251754 + 201979690 201986316 + 6480464 9336459;10391676;12624109;15075319;9234700;10773884;14715662;19074849;18475289;18302674;18044710;17491012;17353931;17148437;17060315;16344560;15169914;14997048;14767472;14582709;12477932;12414801;12242338;12119107;12032832;11036073;10821850;10064583;9417054;9395241;8889548;8125298;9129154;1651322;1651323;18029348;22993316;22318606;21693764;21871131;21906983;19471022;22158614 1999 P78545;Q5SR36 ABBA01027521;AF016295;AF017307;AF110184;AF517841;AK225446;AK309265;AK310814;AK312273;AL691482;AMYH01001644;BC003569;BM976796;BN000001;BQ023145;BX093212;BX537368;CH471067;CR457106;CV570925;CV570991;DA591406;NM_001114309;NM_004433;U66894;U73843;U73844;U97156 AAB58075;AAB65823;AAB65824;AAB67238;AAB96586;AAC51884;AAD45237;AAH03569;AAM70481;ABM81617;ABM84800;BAG35203;CAD29859;CAD97611;CAG33387;EAW91388;EAW91389;EAW91390;EAW91391;NP_001107781;NP_004424;P78545 Hs.603657 1335923;1672536;1791584;1847352;2178916;5124824 D6S1645;PMC115840P1;RH93327;SHGC-56937;SHGC-76134;SHGC-76170 EPR-1;ERT;ESE-1;ESX E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific);E74-like factor 3 (ets domain transcription factor);ETS-related transcription factor Elf-3;OTTHUMP00000034050;OTTHUMP00000034051;OTTHUMP00000034052;OTTHUMP00000034053;epithelial-restricted with serine box;epithelium-restricted Ets protein ESX;epithelium-specific Ets transcription factor 1;ets domain transcription factor, serine box (epithelial-specific) protein-coding ENSG00000163435 3318 03722 602191 VALIDATED 1351818 ELK2AP ELK2A, member of ETS oncogene family, pseudogene 14 14 14 q32.3 86075380 86076356 - 105207423 105211139 - 106136378 106140094 - 12477932;10231026;9795224;8575773;16344560 2003 ABBA01004404;AF080617;AL928769;AMYH01006084;DB095165;NG_001019;NR_046211 Hs.744419 1792436 PMC151015P1 ELK2;ELK2.1;ELK2P1;MGC39713 APPROVED pseudo 3323 VALIDATED 1351734 ELF4 E74-like factor 4 (ets domain transcription factor) The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010] X X q26 129026586 129072153 - 129198895 129244688 - 6480464 15907486;10207087;14970218;14976184;8895518;9524226;14625302;19412182;16581786;16303180;15772651;15489334;15146197;15013761;12477932;12151102;19336002;21465527;21350194;22318606;23217424;21890473;21988832;23393136;23064961;22505724 2000 B1AL80;Q99607 ABBA01047883;ABBA01047884;ABBA01047885;ABBA01047886;ABBA01047887;ABBA01047888;ABBA01047889;AF000670;AK314972;AL136450;AMYH01022969;AMYH01022970;BC017194;BC114355;BC114356;CD364651;CH471107;CN314421;DN999740;NG_016388;NM_001127197;NM_001421;U32645;Z81363 AAB53693;AAC17452;AAH17194;ABM83160;ABM86361;EAX11813;EAX11814;NP_001120669;NP_001412;Q99607 Hs.271940 1673298;1702480;1768241;2117389;2180448;5491569 AL008912;DXS7909;MARC_21518-21519:1033045704:1;RH11198;RH71459;STS-T70285 ELFR;MEF ETS-related transcription factor Elf-4;OTTHUMP00000024003;OTTHUMP00000024004;myeloid Elf-1-like factor APPROVED protein-coding ENSG00000102034 3319 06499 300775 REVIEWED 1606182 ELFN2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 22 22 22 q13.1 21564888 21624315 - 36093946 36153451 - 37764000 37823505 - 6480464 10591208;18029348;17081983;16344560;12477932;11572484;16751776;17868438;19389623;21139048;21906983 114794 Q5R3F8 AB067491;ABBA01055465;ABBA01055466;ABBA01055467;ABBA01055468;AL049850;AMYH01012753;BC032082;BC032083;BC033336;BC041596;CH471095;DA398675;NM_052906;Z93096;Z94160 AAI72260;AAI72561;BAB67797;EAW60159;NP_443138;Q5R3F8 Hs.660812;Hs.716143 1655053;2149572;2153033 AL008661;D22S624;G17846 KIAA1904;LRRC62;PPP1R29;dJ63G5.3 OTTHUMP00000197827;dJ63G5.3 (putative Leucine rich protein);extracellular leucine-rich repeat and fibronectin type III containing 2;extracellular leucine-rich repeat and fibronectin type III domain containing 2;extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2;leucine rich repeat containing 62;leucine-rich repeat and fibronectin type-III domain-containing protein 6;leucine-rich repeat-containing protein 62;protein phosphatase 1 regulatory subunit 29;protein phosphatase 1, regulatory subunit 29 APPROVED protein-coding ENSG00000166897 29396 17229 VALIDATED 4889635 ELL2P1 elongation factor, RNA polymerase II, 2 pseudogene 1 1 1 1 q23.1 131215219 131218937 - 156410767 156414491 - 158144143 158147865 - 646270 ABBA01016630;AL138899;AMYH01001443;NG_006626 1670129;1689129;1690149;1792420 PMC150819P4;RH79988;RH93840;SHGC-54510 pseudo 39343 INFERRED 4889646 ELL2P2 elongation factor, RNA polymerase II, 2 pseudogene 2 4 4 130628925 130629569 - 133288924 133289568 - 100421143 ABBA01044860;AC098866;AMYH01014538;NG_025163 pseudo 39344 INFERRED 5131586 ELL2P3 elongation factor, RNA polymerase II, 2 pseudogene 3 13 68863841 68865162 - 100533713 ABBA01050294;AL356954;AMYH01005190;NG_028874 pseudo 39345 INFERRED 4889752 ELL2P4 elongation factor, RNA polymerase II, 2 pseudogene 4 X X X q27.3 145949143 145949753 + 145436030 145445027 + 145636674 145637284 + 100128690 ABBA01054287;AL109913;AMYH01023163;NG_022711 pseudo 39346 INFERRED 1314143 ELF5 E74-like factor 5 (ets domain transcription factor) The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] 11 11 p13-p12 34456918 34491906 - 34500342 34535347 - 1580863;6480464 16713569;9840936;16704374;16554811;16229011;16189514;15987600;15655699;15489334;14702039;12477932;12359648;10506207;9570133;15342556;20354077;20211142;23086238;16344560;21787113;21900206;21988832;23300383;23279374 2001 A6XAE6;A8K443;Q9UKW6 ABBA01060865;AF049703;AF115402;AF115403;AK074633;AK075197;AK290808;AK290817;AK312537;AL137224;AMYH01003488;BC029743;BG260616;BP358543;CH471064;CQ783285;DA630849;DQ123839;NG_029477;NM_001243080;NM_001243081;NM_001422;NM_198381 AAC79755;AAD22960;AAD22961;AAH29743;AAZ98848;ABM82063;ABM85242;BAC11101;BAF83497;BAF83506;BAG35436;BAG52081;CAF86494;EAW68168;EAW68169;NP_001230009;NP_001230010;NP_001413;NP_938195;Q9UKW6 Hs.11713 1646984;1779816;1779818 D11S4655;SHGC-153789;SHGC-153790 ESE2 ETS-related transcription factor Elf-5;OTTHUMP00000232932;OTTHUMP00000232933;OTTHUMP00000232934;epithelium-restricted ESE-1-related Ets factor;epithelium-specific Ets transcription factor 2 APPROVED protein-coding ENSG00000135374 3320 05525 605169 REVIEWED 1349633 ELK1 ELK1, member of ETS oncogene family This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012] X X p11.2 47379864 47394964 - 47494919 47510003 - 1580863;6480464;6484113;6907045 9155018;17499043;17296730;17203534;17146445;17074809;16490785;16297876;15920481;15808854;15782123;15772901;15772651;15576363;15489334;15449318;15351693;15210726;14992729;14702039;12947314;12887893;12665513;12660819;12514134;12477932;12473660;12409226;12242287;12077333;12023815;11313879;11279280;10997882;10947953;10742173;10716983;10231026;10022839;9795224;9696047;9644975;9570133;9235954;9130707;9010223;8941362;8889548;8798570;8622669;8586671;8575773;8548291;8417810;8386592;8208531;7927346;7889942;7540136;2539641;1630903;1547942;15638726;11726657;12594221;15806162;9020136;16291755;16533805;14970218;19342628;19302787;19133234;19013529;18434015;18316600;18247360;18172009;17967787;17898074;17804646;17724016;17591614;10431817;22589737;20680465;19913121;20628086;20727996;11283259;20371703;10606656;15790681;16169070;17036045;18768922;19546342;19687146;20147408;20337593;20362031;20126313;20211142;20224786;21044953;10644696;11857080;15655247;12551925;21832049;8654373;21642427;21655091;20811994;21796667;22433566;22559731;22085529;22065579;11050086;21543455;22222375;22242952;22267484;22343976;22354998;22372926;19322201;11134016;15967991;17875713;21988832;22094256;23127278;8846788;12788955;23426362;12220533;20012528;23114923;23284628 2002 K7ENR1;P19419;Q86SR6 AB016193;AB016194;AB209047;ABBA01052389;ABBA01052390;ABBA01052391;ABBA01052392;ABBA01052393;ABBA01052394;AF000672;AF080615;AF080616;AK093966;AK312984;AL009172;AMYH01022264;BC048296;BC056150;BQ448492;CB852603;CH471164;CR542252;M25269;NG_009222;NM_001114123;NM_001257168;NM_005229 AAA52384;AAC82466;AAD00862;AAH48296;AAH56150;BAA36616;BAA36617;BAC04259;BAD92284;BAG35821;CAG47048;EAW59321;EAW59322;EAW59323;NP_001107595;NP_001244097;NP_005220;P19419 Hs.181128;Hs.715039;Hs.740673 1686326;1795768;2144406;2160694 ELK1_602;G15979;RH18409;RH69105 ETS domain-containing protein Elk-1;ETS-like gene 1;OTTHUMP00000023224;OTTHUMP00000023225;tyrosine kinase (ELK1) oncogene APPROVED protein-coding ENSG00000126767 3321 02407 311040 REVIEWED 1321444 ELK4 ELK4, ETS-domain protein (SRF accessory protein 1) This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 q32 203851858 203868623 - 205577071 205602000 - 1580863;6480464;6907045 9020136;1339307;7851904;19136943;18469865;12477932;11846562;11406578;10473620;10022839;9734357;9644975;9570133;9235954;8575773;8293474;7566098;7540136;9271374;11313879;9130707;19322201;18029348;17200232;22719019 2005 P28324;Q8IXL1 ABBA01027410;ABBA01027411;ABBA01027412;ABBA01027413;ABBA01154182;AC096533;AF075044;AI002107;AI005122;AK024944;AL117645;AMYH01001673;AMYH01001674;BC040145;BC063676;BE041598;BE675475;BE676052;BF433322;BX346360;CH471067;M85164;M85165;NG_029563;NM_001973;NM_021795;T27937 AAA03631;AAA03632;AAH40145;AAH63676;ABZ91998;EAW91570;EAW91571;EAW91572;EAW91573;EAW91574;NP_001964;NP_068567;P28324 Hs.497520;Hs.602654 1652012;1656838;1658279;1670505;1698542;1770976;1777320;2179185;2182743;5022651;5037552 D11S2921;D1S3206;D8S2279;RH102822;SHGC-12882;SHGC-76228;SHGC-76232;SHGC-76234;SHGC-76251;WI-15027;WI-18186 DKFZp434N185;SAP1 ETS domain-containing protein Elk-4;ETS-domain protein;OTTHUMP00000035338;OTTHUMP00000035339;SAP-1;SRF accessory protein 1;serum response factor accessory protein 1 APPROVED protein-coding ENSG00000158711 3326 02592 600246 REVIEWED 5686924 ELMO1-AS1 ELMO1 antisense RNA 1 p14.2 16344560 100861514 AC009196;DA058843 Hs.627775 APPROVED miscrna 40765 3184213 ELMO2P1 engulfment and cell motility 2 pseudogene 1 15 15 15 q11.2 1590002 1602559 + 20328861 20341338 - 22777497 22789974 - 729894 ABBA01040258;AC116165;AMYH01006380;NG_022962 pseudo 38008 INFERRED 1317143 ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) The protein encoded by this gene is a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. [provided by RefSeq, Jul 2008] 12 12 q23 95112338 95185740 + 96588207 96661606 + 1580863;6480464 17474147;12933792;7851904;7958835;18029348;18832796;18316589;15489334;15302935;12477932;11042694;10490644;10369679;9644975;9570133;8918463;7540136;15580297;20427288;10022839;20379614;21832049;21906983;21987572;12549820 2004 AAB34628;F8VUJ0;F8VZQ0;G3V1Z7;H0YIH6;P41970 ABBA01053315;ABBA01053316;AC008149;AK312694;AMYH01004679;AMYH01004680;BC017371;CH471054;CR542251;NM_005230;Z36715 AAB34628;AAH17371;ABM83880;ABM87200;BAG35573;CAA85309;CAG47047;EAW97561;EAW97562;EAW97563;EAW97564;EAW97565;NP_005221;P41970 Hs.46523 1684313;1690071;1701514;1794106;1794154;2117417;2131996;2179955;5122303;5126999 PMC310794P2;PMC310794P41;RH104390;RH69834;RH71316;RH91230;RH93872;SGC34081;SHGC-37331;STS-Z36715 ERP;NET;SAP2 ETS domain-containing protein Elk-3;ETS-domain protein;ETS-related protein ERP;ETS-related protein NET;OTTHUMP00000243587;OTTHUMP00000243589;SAP-2;SRF accessory protein 2;serum response factor accessory protein 2 APPROVED protein-coding 3325 02593 600247 REVIEWED 1322410 ELL elongation factor RNA polymerase II 19 19 p13.1 18414473 18493918 - 18553473 18632937 - 1580863;6480464 8596958;17353931;17395368;12676794;16086288;16006523;15489334;12773566;12686606;12477932;12446457;11463848;11418481;11230166;10995463;10490622;10419521;10358050;9765201;9556611;9268387;8125298;8016121;7991593;12659632;19447890;19615732;20166137;22895430;20153263;20431927;20854876;19389623;22252557;23314748;20471949;22355797;22567366 8178 P55199 AB208794;ABBA01051264;ABBA01051265;ABBA01051266;ABBA01051267;ABBA01051268;AC005387;AC010335;AF157562;AK225481;AK293105;AK309878;AL136771;AMYH01009593;BC010010;BC033673;BC049195;BC064558;BC108256;BI458899;CH471106;NM_006532;U16282 AAA57120;AAC28752;AAD45322;AAH49195;BAD92031;BAF85794;CAB66705;EAW84707;EAW84708;NP_006523;P55199 Hs.515260 1757715;1777246;1783806;2120221;2135745 D1S3149;SGC31804;SHGC-146351;SHGC-146353;WI-18990 C19orf17;DKFZp434I1916;ELL1;Men;PPP1R68 ELL gene (11-19 lysine-rich leukemia gene);RNA polymerase II elongation factor ELL;eleven-nineteen lysine-rich leukemia protein;protein phosphatase 1, regulatory subunit 68 protein-coding ENSG00000105656 23114 02615 600284 VALIDATED 1319566 ELL2 elongation factor, RNA polymerase II, 2 5 5 5 q15 91099569 91176577 - 95246558 95323531 - 95220802 95297775 - 1580863;6480464 22483617;9108030;15489334;12477932;12446457;11752456;11418481;20379614;19749764;18029348;21873227;21729782;21963094;21988832;23022100;23382691;20471948;21242887;21360054 22936 B4DNK7;D6RC27;H0Y8G1;O00472;Q59FW6;Q7Z656 AB209343;ABBA01069245;AC008592;AK296870;AK297956;AK300310;AMYH01015490;AV652801;BC028412;BC151238;BX538289;CH471084;NM_012081;U88629 AAC51232;AAH28412;ABM82462;ABM85651;BAD92580;BAG59433;BAG60269;BAG62063;CAD98084;EAW96060;NP_036213;O00472 Hs.192221;Hs.708710 1647305;1647975;1670129;1689129;1690149;1690264;1690966;1778812;2118615;2122539;2138882;2154971;2154973;2155504;2184838;2217304;5094138 A001X44;Cda1ba12;ELL2_3553;G19765;G36675;G54567;RH46186;RH47475;RH69314;RH69404;RH79988;RH80608;RH93840;SGC32614;SHGC-54510;STS-H56561;WI-11385 ELL-related RNA polymerase II, elongation factor;OTTHUMP00000151170;RNA polymerase II elongation factor ELL2 protein-coding ENSG00000118985 17064 11798 601874 VALIDATED 1320517 ELL3 elongation factor RNA polymerase II-like 3 15 15 15 q15.3 20954260 20958964 - 41852090 41856794 - 44064798 44069502 - 6480464 10882741;15489334;14702039;12477932;16169070;17207965;20431927;18029348;19343720 80237 C9JHD8;Q9HB65 ABBA01039223;AC018512;AF276512;AI955716;AK026290;AK057528;AK126384;AMYH01006607;BC006548;BC019293;BC052599;BC062349;CH471082;CR457358;CS072259;NM_025165 AAG13463;AAH06548;AAH19293;ADQ32210;BAB15432;BAG51928;BAG54320;CAG33639;CAI93397;EAW77237;EAW77238;NP_079441;Q9HB65 Hs.706346 1721133;1798754;1802696;1805208;1807316;1808352;1933558;1933560;1933562;1933564;1933566;1933568;1933570;1933572;1933574;1933576;1933578;1933580;1933582;1933584;1933586;1933588;1933590;1933592;1933594;1933596;1933598;1933600;1933602;1933604;1933606;1933608;1933610;2141347;2209070;2209072;2209074;2209076;2209078;2217306 D2S2909;ECD00217;ECD02235;ECD03548;ECD04629;ECD05157;ELL3_3625;G59551;REN37612;REN37613;REN37614;REN37615;REN37616;REN37617;REN37618;REN37619;REN37620;REN37621;REN37622;REN37623;REN37624;REN37625;REN37626;REN37627;REN37628;REN37629;REN37630;REN37631;REN37632;REN37633;REN37634;REN37635;REN37636;REN37637;REN37638;stSG627941;stSG627942;stSG627943;stSG627944;stSG627945 FLJ22637 OTTHUMP00000066301;RNA polymerase II elongation factor ELL3 protein-coding ENSG00000128886 23113 10933 609885 VALIDATED 1349956 ELMOD1 ELMO/CED-12 domain containing 1 11 11 11 q22.3 104616622 104692348 + 106967284 107042715 + 107461817 107537505 + 737633;1580863;6480464 12477932 17452337;16189514;15489334;14702039;20585627;19913121;20628086;20677014;20379614;18029348 55531 E9PLM8;Q8N336 ABBA01039879;AK054794;AK297351;AK303689;AL359601;AMYH01004015;AMYH01004016;AP000889;AP002353;BC028725;CH471065;DC375486;NM_001130037;NM_018712 AAH28725;BAG59800;BAG64679;CAB94879;EAW67091;EAW67092;NP_001123509;NP_061182;Q8N336 Hs.495779 1340567;1666099;1674883;1724743;1748845;5015619;5022450;5118444 A008Y45;D10S275;D11S2017;D11S2366;D11S3114;D11S3316;RH122577;SHGC-104433 DKFZp547C176 ELMO domain containing 1;ELMO domain-containing protein 1;OTTHUMP00000232725;OTTHUMP00000232726;OTTHUMP00000232727 protein-coding ENSG00000110675 25334 10934 VALIDATED 1317811 ELMO1 engulfment and cell motility 1 This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011] 7 7 p14.1 36860486 37455036 - 36892511 37488895 - 1580863;6480464;6907045 12029088;12879077;15247908;11595183;14737186;19183347;18768751;18095154;17671188;17653210;17173036;16344560;16213822;15952790;15793258;15723800;15700267;15489334;14702039;14638695;12829596;12690205;12477932;12134158;11230166;9179496;14645848;15620647;21383967;11256614;19176441;19651817;19929986;20031603;20190752;20299368;20379614;17207965;20826100;16495483;20958313;20732417;21399635;21035343;23535033;23156397;22503503;22415709;21890473;21906983;22331897;22216198;22747683;23382691;23525077;22505724;22844345 9844 A4D1X5;C9IZR8;C9J5X3;C9JB20;C9JIW2;H7C0N5;H7C0S6;H7C3P3;Q92556 AACC02000036;ABBA01056911;ABBA01056912;ABBA01056913;ABBA01056914;ABBA01056915;ABBA01056916;AC007349;AC007444;AC009196;AC078843;AC078844;AC083861;AF398885;AK001084;AK126565;AK291784;AK296253;AK301151;AK314349;AL136787;AMYH01017181;AMYH01017182;AMYH01017183;AMYH01017184;AMYH01017185;AMYH01017186;AMYH01017187;BC003051;BC064635;BC077074;BC114341;BI600726;CH236951;CH471073;D87457;DB156714;DC366992;NM_001039459;NM_001206480;NM_001206482;NM_014800;NR_038120;NR_038121 AAH03051;AAH64635;AAH77074;AAI14342;AAL14466;ADQ32677;BAA13397;BAC86597;BAF84473;BAG58968;BAG62742;CAB66721;EAL23978;EAL23979;EAW94075;EAW94076;EAW94077;EAW94078;EAW94079;NP_001034548;NP_001193409;NP_001193411;NP_055615;Q92556 Hs.434989 1645291;1683817;1701232;1705690;1707554;1707598;1709466;1711820;1711826;1714619;1719997;1723363;1754751;1757053;1757207;1772773;2109279;2122990;2128261;2128975;2140213;2149549;2156512;2156525;2183303;2186307;5014051;5015619;5016478;5019549;5020740;5021872;5022651;5037552;7186031;7187541 D11S2921;D11S3114;D7S2231;D7S2685;D7S2843;D7S757;D8S2278;D8S2279;ELMO1_9004;G49437;G49440;G49463;GDB:1317508;GDB:434012;GDB:4585326;GDB:4585643;L17809;RH104244;RH118499;RH119975;RH123976;RH46122;RH68670;RH68762;RH80118;SHGC-133114;SHGC-144423;SHGC-144627;SHGC-81784;SHGC-83425;SHGC-84588;SHGC-84611;WI-16086;sY3084 CED-12;CED12;ELMO-1;KIAA0281;MGC126406 OTTHUMP00000128209;OTTHUMP00000128236;OTTHUMP00000207056;OTTHUMP00000207060;OTTHUMP00000207065;ced-12 homolog 1;engulfment and cell motility 1 (ced-12 homolog, c. elegans);engulfment and cell motility protein 1;protein ced-12 homolog APPROVED protein-coding 16286 12102 606420 REVIEWED 1348670 ELNL1 elastin-like 1 7956370 2007 3328 1354404 ELNR1 elastin receptor 1, 67kDa 2008 3329 1353080 ELMOD3 ELMO/CED-12 domain containing 3 2 2 2 p11.2 85409846 85447061 + 85435447 85472382 + 85581843 85618875 + 737633;1580863;6480464 12477932 16344560;15815621;15498874;15489334;14702039;17452337;17207965 84173 B8ZZT8;D3YTJ5;D6R929;D6RHZ3;E9PI96;F8WEC1;Q8WV70 ABBA01075747;ABBA01075748;AC062037;AF258573;AK092920;AK307252;AL713718;AMYH01010494;BC001942;BC010991;BC018666;BC054504;BC112324;CH471053;DA294897;DQ256726;DQ256727;EB385493;NM_001135021;NM_001135022;NM_001135023;NM_032213 AAG23776;AAH01942;AAH10991;AAH18666;AAI12325;AAY24127;ABB69067;ABB69068;ADQ32247;CAD28512;EAW99521;EAW99522;EAW99523;EAW99524;EAW99525;EAW99526;EAW99527;EAW99528;EAW99529;NP_001128493;NP_001128494;NP_001128495;NP_115589;Q96FG2 Hs.269990 1654270;2162349;2173864;2174511;2183313;2187586;5015619;5015961;5016478;5020948;5021396;5022578;5022651;5037552;5094436;5109281 A005V40;A006X07;Cda02a04;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D2S2699;D8S2279;G30177;G35510;G54796;GDB:313783;GDB:434012;RH41773 FLJ21977;FLJ35601;LST3;MGC111036;RBED1;RBM29 C330008I15Rik;ELMO domain-containing protein 3;OTTHUMP00000160671;OTTHUMP00000202949;OTTHUMP00000202950;OTTHUMP00000202954;OTTHUMP00000202955;OTTHUMP00000202956;OTTHUMP00000202957;OTTHUMP00000204481;RNA binding motif and ELMO/CED-12 domain 1;RNA binding motif protein 29;RNA-binding motif and ELMO domain-containing protein 1;RNA-binding motif protein 29;RNA-binding protein 29;liver-specific organic anion transporter 3TM12;organic anion transporter LST-3b protein-coding ENSG00000115459 26158 07973 VALIDATED 1314023 ELMO2 engulfment and cell motility 2 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 20 20 20 q13 41706103 41746680 - 44428096 44468678 - 44994689 45035271 - 1580863;6480464 18602983;16381901;15951569;15809229;15592455;15489336;15489334;14702039;12879077;12477932;11780052;11703939;11595183;11347906;11230166;11076863;22568984;21139048;21906983;23184944;22505724 63916 B4DRL5;B4DZ20;F5GZP8;H0YCM7;Q5JVZ4;Q5JVZ5;Q5JVZ8;Q5JW01;Q7Z5G9;Q9HAH0 AB058737;ABBA01052679;AF398886;AF417861;AK021718;AK022731;AK023103;AK057032;AK092796;AK293861;AK299318;AK302710;AL031686;AL133227;AL713765;AL833406;AMYH01011942;AY947527;BC000143;BC014207;BC021079;BC036483;BX648819;CH471077;NM_133171;NM_182764 AAH00143;AAL14467;AAL38512;AAX21788;BAB13879;BAB14210;BAB14405;BAB47463;BAB71350;BAG61327;BAG63932;BAH11614;CAL38605;EAW75739;EAW75743;EAW75745;EAW75746;NP_573403;NP_877496;Q96JJ3 Hs.210469 1674456;1678649;2130011;2146985;2157359;2159568;2168165 A006N01;D15S1293;G01527;G01528;RH31925;RH46558;Z94362 CED-12;CED12;ELMO-2;FLJ11656;KIAA1834 OTTHUMP00000031762;OTTHUMP00000031764;OTTHUMP00000031765;PH domain protein CED12A;ced-12 homolog 2;engulfment and cell motility 2 (ced-12 homolog, c. elegans);engulfment and cell motility protein 2;hCed-12A;protein ced-12 homolog A APPROVED protein-coding ENSG00000062598 17233 12103 606421 REVIEWED 1352550 ELMOD2 ELMO/CED-12 domain containing 2 This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010] 4 4 4 q31.1 138775314 138804916 + 141664802 141691297 + 141445312 141474924 + 737633;1580863;6480464 12477932 17903293;17452337;16773575;15489334;14702039;16344560;19966137;21139048;21890473;21906983 255520 D6RBS5;D6RHX2;D6RJB5;Q8IZ81 ABBA01069981;AC093671;AK093087;AK095357;AK312800;AMYH01014572;BC015168;BX499240;BX648349;BX648843;CH471056;DA797584;DB278612;FB342967;FB711090;NG_027825;NM_153702 AAH15168;BAG35659;CAR81484;CAS91500;EAX05096;EAX05097;NP_714913;Q8IZ81 Hs.450105 1673514;1688899;1689039;1766045 RH92021;RH98918;SHGC-149430;SHGC-67283 9830169G11Rik;FLJ35768;FLJ38038;MGC10084 ELMO domain-containing protein 2;OTTHUMP00000164615 APPROVED protein-coding ENSG00000179387 28111 13267 610196 REVIEWED 1312348 ELMO3 engulfment and cell motility 3 The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51741260 51746159 + 65790529 65795428 + 67233028 67237927 + 1580863;6480464 16344560;15489334;14702039;12477932;11595183;20127720;21906983 79767 F8W9E7;I3L4D1;Q96BJ8 ABBA01025432;AC040160;AI955864;AK023886;AK056923;AK300976;AMYH01007745;BC015524;BC034410;CH471092;DA872517;NM_024712 AAH15524;AAH34410;ABM82258;ABM85441;BAB14712;BAG62598;EAW83097;EAW83098;NP_078988;Q96BJ8 Hs.377416 1674246;1674248;1685053;1795720 A006F26;E2F4_601;G20763;RH70934 CED-12;CED12;ELMO-3;FLJ13824 OTTHUMP00000164937;OTTHUMP00000164939;ced-12 homolog 3;engulfment and cell motility 3 (ced-12 homolog, c. elegans);engulfment and cell motility protein 3 APPROVED protein-coding ENSG00000102890 17289 12104 606422 REVIEWED 6770589 ELOVL2-AS1 ELOVL2 antisense RNA 1 6 11043991 11079377 + 12477932;16461635;21829377;21886157 100506409 ABBA01022095;ABBA01022096;ABBA01022097;AL121955;AMYH01016082;BC038757;BC044599;BI828717;DN918479;NR_038962;NR_038963;NR_038964 Hs.43818 APPROVED miscrna 44156 VALIDATED 1314547 ELMSAN1 ELM2 and Myb/SANT-like domain containing 1 14 14 14 q24.3 54217906 54289979 - 73251578 73323649 - 74181825 74253896 - 6480464 17081983;16344560;15489334;14702039;12508121;12477932;21258344;18029348;20936779;21182205;22939629;19531213;19505873;19471022;21139048;21890473;19322201 91748 C9JYU7;F6RU81;H7C1L3;Q6PJG2 ABBA01030745;ABBA01030746;ABBA01030747;AC005520;AC006146;AK024978;AK090424;AK095434;AK127785;AMYH01005846;AMYH01005847;AMYH01005848;BC003121;BC006451;BC006511;BC009202;BC015668;BC025330;BC034345;BC036475;BC047633;BC052976;BC062730;BC105996;BG177343;CH471061;DA096012;DN999792;NM_001043318;NM_194278 AAH06511;AAH09202;AAH15668;AAH25330;BAC03405;EAW81127;EAW81128;NP_001036783;NP_919254;Q6PJG2 Hs.743376 1335751;1653990;1847591;2112154;2112156;2118287;2120410;2126495;2129994;2130845;2146805;2149942;5015861;5020948;7185938 D10S16;D14S1025;D14S1379;D14S1383;G06831;G20218;G35385;G35510;G36110;G38125;G38261;G38301;G38338;SHGC-57340 C14orf117;C14orf43;FLJ00335;LSR68;c14_5541 ELM2 and SANT domain-containing protein 1;OTTHUMP00000197181;OTTHUMP00000197182;OTTHUMP00000197183;hypothetical protein LOC91748;uncharacterized protein C14orf43 APPROVED protein-coding ENSG00000156030 19853 12648 VALIDATED 1318475 ELOVL2 ELOVL fatty acid elongase 2 6 6 6 p24.2 12209434 12273087 - 11088978 11152610 - 10980992 11044624 - 1580863;6480464 19148276;18660489;17583696;16564093;14702039;12477932;12371743;22916037;17207965;20037589;20379614;8944226;21829377;21886157;22359512;21917437;19805454;23061750;21560298 54898 Q9NXB9 ABBA01022094;AJ420504;AK000341;AL080199;AL121955;AMYH01016081;AMYH01016082;BC050278;BC060809;CH471087;NM_017770 AAH50278;AAH60809;ADQ33026;BAA91096;EAW55290;EAW55291;EAW55292;NP_060240;Q9NXB9 Hs.656436 1785904;2109281;2133091;2185460 A006P33;ELOVL2_9842;RH70182;SHGC-141925 FLJ20334;SSC2 3-keto acyl-CoA synthase ELOVL2;ELOVL FA elongase 2;OTTHUMP00000016029;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2;elongation of very long chain fatty acids protein 2;very-long-chain 3-oxoacyl-CoA synthase 2 APPROVED protein-coding ENSG00000197977 14416 16857 611814 VALIDATED 736469 ELN elastin This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 q11.23 73080363 73122173 + 73442427 73484237 + 1580326;1580327;1580328;1580157;1580330;1601026;1580863;6480464;7207897;7240710;7207866;7207865 16081882;11175284;15218274;15944607;15381555;8132745;7545578;19878076;21478483 20884320;8096434;9873040;9607766;9580666;19282817;19194475;19167375;19144321;19143680;19056482;19054052;19029017;18842294;18450438;18441095;18376131;18348261;18326737;18307085;18155129;17999374;17929969;17912483;17727474;17724138;17693470;17672902;17626896;17591890;17567153;17287949;17255108;17227755;17139263;17037986;16982955;16899711;16878986;16829682;16820942;16691586;16675961;16611674;16574921;16381901;16374472;16303743;16161116;16085695;16078697;16042404;15961300;15925490;15890991;15890261;15866738;15860743;15774842;15748998;15721581;15698546;15681698;15654955;15550396;15537639;15489336;15489334;15342556;15297630;15233806;15134831;15036271;15009703;14702039;14500713;12853948;12690215;12679320;12618961;12555228;12477932;12102453;12029074;12016585;11911775;11867344;11809415;11735026;11723132;11711520;11230166;11076863;11071917;11003705;10942104;10825173;10544250;10536372;10471600;10190538;10190324;9819363;9745729;9215671;9215670;8947836;21368178;22748047;8761465;8689688;8541862;8125298;7693128;6912069;6150137;3840328;3171221;3039501;3038460;2831431;2722804;2093478;2014796;1372742;8812460;22573328;19913121;20628086;20673868;20694560;20457133;21276682;21391811;21309044;11805834;20347403;16251195;19357152;19478233;19570982;19578796;19593948;19603496;19617625;19627254;19682489;19701759;19755752;19844261;19889633;19948975;20051886;20346360;20452482;20877624;20844573;20847053;20301427;22947869;21080980;20600892;20926252;20301756;12686141;21321118;23401415;19957551;21948647;19087518;21967233;22068323;22411928;22003121;22101911;22288597;21540769;22034890;22135799;22095981;22328151;22004282;22099332;17872975;22475419;21988832;23250738;23049084;22728886;22796164 2006 B3KRT8;E7EN51;E7EN65;E7ENM0;E7ENW7;E7EP82;E7EQH8;E7ETP7;E7EWS8;E9PGX4;F8WAH6;G3V0G6;G5E950;H7C3K0;Q6P0L4 AA600350;AB208942;ABBA01063923;ABBA01063924;ABBA01063925;ABBA01063926;AC005056;AF086171;AK075494;AK075554;AK092232;AK094138;AK095990;AK122731;AK125511;AK130894;AK225659;AK304845;AMYH01017540;BC035570;BC050379;BC065566;BP284909;BX537939;BX538199;CH471200;CQ796435;J04821;M16983;M17265;M17266;M17267;M17268;M17269;M17270;M17271;M17272;M17273;M17274;M17275;M17276;M17277;M17278;M17279;M17280;M17281;M17282;M24782;M26867;M36860;NG_009261;NM_000501;NM_001081752;NM_001081753;NM_001081754;NM_001081755;NM_001278912;NM_001278913;NM_001278914;NM_001278915;NM_001278916;NM_001278917;NM_001278918;NM_001278939;U62292;U63721;U77846;U93037;X15603;X52896 AAA52379;AAA52382;AAA53190;AAB17544;AAB65620;AAB65621;AAC13884;AAC98393;AAC98394;AAC98395;AAC99789;AAH65566;AAS07435;BAC11651;BAC11696;BAC85506;BAC86188;BAD92179;BAG52500;BAG52824;BAG53188;BAG65586;CAA33627;CAD97910;CAD98065;CAG26527;CAL38219;EAW69624;EAW69625;EAW69626;EAW69627;EAW69628;EAW69629;EAW69630;EAW69631;EAW69632;EAW69633;EAW69634;EAW69635;EAW69636;NP_000492;NP_001075221;NP_001075222;NP_001075223;NP_001075224;NP_001265841;NP_001265842;NP_001265843;NP_001265844;NP_001265845;NP_001265846;NP_001265847;NP_001265868;P15502 Hs.647061 1742977;1766137;1790411;1790447;2116938;2149026;2179089;2186908;5119751;5120558;7187114 D7S2764;D7S3270;D7S3298;G31704;GDB:181244;GDB:226550;GDB:360310;GDB:3754258;SHGC-149516;SHGC-36654 FLJ38671;FLJ43523;SVAS;WBS;WS OTTHUMP00000160564;OTTHUMP00000196667;OTTHUMP00000211820;OTTHUMP00000211857;OTTHUMP00000211858;OTTHUMP00000211859;OTTHUMP00000211860;OTTHUMP00000211861;OTTHUMP00000211862;OTTHUMP00000211863;OTTHUMP00000211864;OTTHUMP00000211865;OTTHUMP00000211866;elastin;elastin (supravalvular aortic stenosis, Williams-Beuren syndrome);tropoelastin APPROVED protein-coding ENSG00000049540 3327 00556 123700;130160;185500 REVIEWED 1601839 ELOF1 elongation factor 1 homolog (S. cerevisiae) 19 19 19 p13.2 11558603 11564794 - 11524858 11531051 - 11663858 11670051 - 6480464 16730941;16260625;16189514;15489334;14702039;12477932;16169070;15867431;17207965;21900206 84337 K7EL94;K7EMV4;K7EN05;K7EPC8;K7EQ44;P60002 ABBA01029839;ABBA01029840;AC008481;AC009001;AK001171;AK097850;AMYH01009487;BC007516;BG424379;BG718042;CH471106;NM_032377 AAH07516;ACE87028;ACE87714;ADQ32410;EAW84230;EAW84231;NP_115753;P60002 Hs.631633 1734634;2156098;5023733 AU048745;D19S636E;WI-15958 ELF1 elongation factor 1 homolog (ELF1, S. cerevisiae);transcription elongation factor 1 homolog protein-coding ENSG00000130165 28691 14639 VALIDATED 1316352 ELOVL3 ELOVL fatty acid elongase 3 This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013] 10 10 10 q24.32 97727066 97730269 + 103976133 103979336 + 103986143 103989346 + 1580863;6480464 15489334;14581464;12477932;10429212;17583696;8944226;17207965;21988832 83401 Q9HB03 ABBA01063164;AF292387;AL160011;AMYH01003017;BC034344;CH471066;HY050356;NM_152310 AAG17875;AAH34344;ADQ31862;EAW49711;NP_689523;Q9HB03 Hs.302130 CIG-30;CIG30;MGC21435 3-keto acyl-CoA synthase ELOVL3;ELOVL FA elongase 3;OTTHUMP00000020361;cold-inducible glycoprotein of 30 kDa;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3;elongation of very long chain fatty acids protein 3;very-long-chain 3-oxoacyl-CoA synthase 3 APPROVED protein-coding ENSG00000119915 18047 16858 611815 REVIEWED 1349015 ELOVL1 ELOVL fatty acid elongase 1 1 1 1 p34.2 42111226 42115853 - 43601659 43606286 - 43829068 43833745 - 1580863;6480464 17353931;15489334;14702039;12477932;10810093;8125298;20166112;20937905;8944226;21139048;21890473;15342556;16712791;21987572 64834 Q9BW60 AA635780;ABBA01050956;AF151846;AF336793;AK001653;AK130174;AK222498;AK298163;AL139289;AL537185;AMYH01000557;BC000618;BC095456;BM556982;BP208926;BP281965;BU180063;BU786323;BU857779;CB149715;CH471059;NM_001256399;NM_001256401;NM_001256402;NM_022821;NR_046117 AAD34083;AAH00618;AAH95456;AAL71993;BAA91813;BAD96218;BAG60436;EAX07100;NP_001243328;NP_001243330;NP_001243331;NP_073732;Q9BW60 Hs.25597 1653959;1683477;2141046 A004O43;RH12828;RH98782 CGI-88;Ssc1 3-keto acyl-CoA synthase ELOVL1;ELOVL FA elongase 1;OTTHUMP00000008574;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1;elongation of very long chain fatty acids protein 1;very-long-chain 3-oxoacyl-CoA synthase 1 APPROVED protein-coding ENSG00000066322 14418 10935 611813 VALIDATED 1321534 ELOVL7 ELOVL fatty acid elongase 7 5 5 5 q12.1 56988499 57035934 - 60083373 60175858 - 60047616 60140101 - 6480464 16344560;12477932;19826053;20379614;8944226;21959040 79993 A1L3X0;D6RBM2;D6RBR5;D6RE10;D6RHD0 AB181393;ABBA01015803;ABBA01015804;ABBA01015805;AC104113;AC109133;AC109579;AI769834;AK027216;AL137506;AMYH01015108;AMYH01015109;AMYH01015110;BC094792;BC130310;BC130312;BC144257;CH471123;DA247166;NM_001104558;NM_024930 A1L3X0;AAI30311;AAI30313;ADR83129;BAB15697;BAD93238;CAB70777;EAW55001;EAW55002;NP_001098028;NP_079206 Hs.274256 1685393;1752385;1753059;2145058 D5S2713;RH98189;SHGC-106355;SHGC-77932 FLJ23563 3-keto acyl-CoA synthase ELOVL7;ELOVL FA elongase 7;ELOVL family member 7, elongation of long chain fatty acids;OTTHUMP00000221723;OTTHUMP00000221724;OTTHUMP00000221725;OTTHUMP00000221726;elongation of very long chain fatty acids protein 7;very-long-chain 3-oxoacyl-CoA synthase 7 APPROVED protein-coding ENSG00000164181 26292 18700 614451 VALIDATED 1313772 ELOVL4 ELOVL fatty acid elongase 4 This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008] 6 6 q14 80681248 80713941 - 80624529 80657315 - 1580863;1598895;6480464;7240710 11726641 17000705;16344560;17207965;17286855;11138005;17356513;17210851;16885922;16476896;16364203;16036915;15930014;15489334;15028284;14702039;14574404;12967813;12824221;12592226;12477932;11581213;11474659;10218695;8002834;8002833;22773346;20388345;20522523;20801516;20096366;8944226;22863181;21139992;21890473;22100072;23509295;22948568 6785 Q9GZR5 ABBA01040419;AF277094;AF279654;AJ420478;AK055277;AK310625;AK312511;AL132875;AL133475;AMYH01016459;AY037298;BC038506;CH471051;DA122864;DQ426871;NG_009108;NM_022726 AAG47668;AAG47669;AAH38506;AAK68639;ABM82155;ADQ32338;BAB70895;BAG35412;EAW48701;NP_073563;Q9GZR5 Hs.101915 1697534;1752387;1856199;2167185 RH102273;RH46713;SGC34498;SHGC-106356 ADMD;CT118;FLJ17667;FLJ92876;ISQMR;STGD2;STGD3 3-keto acyl-CoA synthase ELOVL4;ELOVL FA elongase 4;OTTHUMP00000016776;Stargardt disease 3 (autosomal dominant);cancer/testis antigen 118;elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4;elongation of very long chain fatty acids protein 4;very-long-chain 3-oxoacyl-CoA synthase 4 APPROVED protein-coding ENSG00000118402 14415 05697 600110;605512;614457 REVIEWED 1352223 ELP4 elongator acetyltransferase complex subunit 4 This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 11 11 11 p13 31678743 31952788 + 31487873 31761905 + 31531297 31805329 + 6480464 11714725;11818576;16381901;15489336;15473317;12477932;11889558;11435442;11230166;11076863;19834596;17577209;19172991;23080069;22863883;22939629;21139048 26610 B4E3W0;E9PPJ9;G5E9D4;Q96EB1 ABBA01060922;ABBA01060923;ABBA01060924;ABBA01060925;ABBA01060926;AC108456;AC131571;AJ276005;AK000505;AK304885;AL136677;AL390767;AMYH01003476;AMYH01003477;BC012514;CH471064;NM_019040;Z83001;Z83306;Z83307 AAH12514;ABM82394;ABM85577;BAA91212;BAG65622;CAB66612;CAC08200;CAC10331;CAL38337;CAL38732;EAW68237;EAW68238;NP_061913;Q96EB1 Hs.175534 1337180;1651644;1669696;1672345;1716907;1719949;1722705;1723947;1731843;1792958;1855066;2132958;2168283 AFM206xb2;D11S1170;D11S1322;D11S2335;D11S4662;D11S995;G60437;PMC17648P1;RH118706;RH121745;RH123953;RH35880;STS-T88830 C11orf19;FLJ20498;PAX6NEB;PAXNEB;dJ68P15A.1 OTTHUMP00000183580;OTTHUMP00000183581;OTTHUMP00000232224;PAX6 neighbor gene protein;elongation protein 4 homolog;elongator complex protein 4;hELP4 APPROVED protein-coding ENSG00000109911 1171 07377 606985 REVIEWED 1353049 ELOVL5 ELOVL fatty acid elongase 5 ELOVL5 plays a role in elongation of long-chain polyunsaturated fatty acids (Leonard et al., 2000 [PubMed 10970790]).[supplied by OMIM, Mar 2008] 6 6 6 p21.1-p12.1 54794435 54876099 - 53240155 53321901 - 53132196 53213977 - 1302211;1580863;6480464 10970790 18660489;16303743;16273301;22293571;15489334;14702039;14574404;12477932;11230166;9110174;8619474;8944226;20363506;20379614;17207965;21383846;21508110;21139048;21890473;19322201;23099444 60481 E2QRH7;Q9UI22 AB209798;ABBA01050538;ABBA01050539;ABBA01050540;AF052129;AF111849;AF231981;AF338241;AK074748;AK074889;AK125098;AK299674;AK302948;AL034374;AL136939;AMYH01016358;AMYH01016359;AMYH01016360;BC009838;BC017270;BC067123;BC074503;CH471081;CQ782857;DC345924;NM_001242828;NM_001242830;NM_001242831;NM_021814 AAF16688;AAF70631;AAH17270;AAH67123;AAM00193;ADQ31919;BAC11178;BAC11270;BAD93035;BAG54141;BAG61584;BAG64104;CAB66873;CAF86084;EAX04413;EAX04414;EAX04415;EAX04416;EAX04417;EAX04418;EAX04419;EAX04420;EAX04421;EAX04422;NP_001229757;NP_001229759;NP_001229760;NP_068586;Q9NYP7 Hs.520189 1659640;1660933;1694164;1697694;1768670;1856131;2186493;5113444 A008D02;AL035167;D6S1213E;D6S2076;RH102363;RH47678;RH93453;SGC32472 HELO1;RP3-483K16.1;dJ483K16.1 3-keto acyl-CoA synthase ELOVL5;ELOVL FA elongase 5;ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast);OTTHUMP00000017867;OTTHUMP00000017868;elongation of very long chain fatty acids protein 5;fatty acid elongase 1;homolog of yeast long chain polyunsaturated fatty acid elongatio;homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2;very-long-chain 3-oxoacyl-CoA synthase 5 APPROVED protein-coding ENSG00000012660 21308 13268 611805 VALIDATED 1345221 ELOVL6 ELOVL fatty acid elongase 6 Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008] 4 4 4 q25 108263951 108413724 - 111189992 111339220 - 110970229 111119820 - 1302212;1580863;6480464 11567032 8889549;18660489;16344560;15815621;15489334;15342556;14702039;12477932;8944226;20732626;19259639;20332099;22753171;21701577;21544602;21906983;23251661 79071 D6RBP4;D6RCU0;D6RHI2;Q9H5J4 ABBA01063786;ABBA01063787;ABBA01063788;ABBA01063789;ABBA01063790;ABBA01063791;AC004050;AC093770;AK027031;AK074813;AK074882;AMYH01014458;AMYH01014459;AMYH01014460;BC001305;BE539688;BP278053;BP314858;CH471057;DB368351;H65618;NM_001130721;NM_024090 AAH01305;AAY40928;BAB15632;BAC11225;EAX06258;EAX06259;EAX06260;NP_001124193;NP_076995;Q9H5J4 Hs.412939;Hs.652828 1645171;1774914;1780426;1853682;1855543;2115105;2124212;2126735;2131812;2140769;2159309;2168184;2170604;2184511 D4S2528E;D4S482;G33626;RH47998;SHGC-16331;SHGC-19835;SHGC-24798;SHGC-30110;SHGC-34005;SHGC-50284;SHGC-59866;SHGC-67274;STS-N35799;st44i23SP6_nih FACE;FAE;FLJ23378;LCE;MGC5487 3-keto acyl-CoA synthase ELOVL6;ELOVL FA elongase 6;ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast);OTTHUMP00000163370;OTTHUMP00000163371;OTTHUMP00000221927;OTTHUMP00000222111;elongation of very long chain fatty acids protein 6;fatty acid elongase 2;fatty acyl-CoA elongase;hELO2;long-chain fatty-acyl elongase;very-long-chain 3-oxoacyl-CoA synthase 6 APPROVED protein-coding ENSG00000170522 15829 13269 611546 VALIDATED 1315022 ELP2 elongator acetyltransferase complex subunit 2 18 18 18 q12.2 30517767 30562479 + 31963885 32008605 + 33709837 33754688 + 6480464 11714725;15489334;14702039;12477932;11818576;10954736;8125298;18029348;19834596;18303054;22863883;22939629;21906983;22069317;22053931 55250 F5GWY6;F5GX79;F5GYE9;H0YFW0;K7ER35;Q8N5C2 ABBA01022432;ABBA01022433;AC023043;AC091060;AF332505;AF403223;AK001741;AK022709;AK222791;AK293051;AK300201;AK302062;AMYH01008938;AMYH01008939;BC007098;BC009211;BC032553;CH471088;CR457269;DC325711;NM_001242875;NM_001242876;NM_001242877;NM_001242878;NM_001242879;NM_018255;NR_040110 AAH09211;AAH32553;AAK97355;AAQ03093;BAA91874;BAB14193;BAD96511;BAF85740;BAG61972;BAG63452;CAG33550;EAX01373;EAX01374;EAX01375;EAX01376;NP_001229804;NP_001229805;NP_001229806;NP_001229807;NP_001229808;NP_060725;Q6IA86 Hs.8739 1660133;1670058;2117270 RH36194;SHGC-57493;STS-R07637 FLJ10879;SHINC-2;STATIP1;StIP OTTHUMP00000163412;OTTHUMP00000237083;OTTHUMP00000237085;OTTHUMP00000237086;OTTHUMP00000237087;OTTHUMP00000237089;OTTHUMP00000237090;STAT3-interacting protein 1;elongation protein 2 homolog;elongator complex protein 2;elongator protein 2;signal transducer and activator of transcription 3 interacting protein 1;signal transducer and activator of transcription interacting protein 1;stIP1 APPROVED protein-coding ENSG00000134759 18248 15443 VALIDATED 4107118 EMBP1 embigin pseudogene 1 1 1 1 p11.2 179675288 179728624 + 120962433 121015209 + 121260910 121313686 + 19330030 647121 ABBA01003876;AK128714;AL592494;AMYH01000981;AMYH01000982;AMYH01000983;AMYH01000984;NR_003955 Hs.697682 2148623 SHGC-34214 pseudo 38661 VALIDATED 1316051 ELP3 elongator acetyltransferase complex subunit 3 ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009] 8 8 p21.1 28006645 28104585 + 27950584 28048670 + 1580863;6480464 11714725;11818576;19185337;18996918;17558451;16381901;16344560;15761153;15489336;14702039;12477932;11256614;11230166;11076863;8889548;8543574;8125298;15616580;19429107;20036197;19834596;20877300;20626565;22863883;18303054;22939629;22216241;21139048;21890473;21906983;21963094;22678362;23000965 55140 B4DE19;B4DIG1;B4DKA4;B4DXV1;E5RG26;E5RHR2;E5RHY2;E5RIC0;E5RIU1;E5RIZ7;H0YAP7;H0YC54;Q9H9T3 ABBA01005596;ABBA01005597;AC019031;AC021678;AK001284;AK022626;AK223047;AK293424;AK295574;AK296475;AK298265;AK302140;AK315985;AK316053;AL834273;AMYH01018604;BC001240;BM663362;BX648011;CH471080;DA150994;DA787116;NM_018091 AAH01240;BAA91600;BAB14138;BAD96767;BAG56930;BAG58473;BAG59116;BAG60529;BAG63513;BAH14356;BAH14424;CAD38948;CAH10573;CAL37511;EAW63528;EAW63529;NP_060561;Q9H9T3 Hs.491336 1338245;1646045;1657309;1667519;1673786;1757499;1847371;2164382;2164384;2165496;2178154;5015861;5015961;5037552;7185938 A002C05;D10S16;D15S1477;D8S1820;D8S2279;G04236;G19915;RH16604;SHGC-144874;SHGC-2723;STS-D29223;STS-H84776;WI-11768;WI-19683 FLJ10422;KAT9 OTTHUMP00000128319;OTTHUMP00000225327;OTTHUMP00000225330;elongation protein 3 homolog;elongator complex protein 3;hELP3 APPROVED protein-coding ENSG00000134014 20696 10936 612722 VALIDATED 1354263 ELSPBP1 epididymal sperm binding protein 1 The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [provided by RefSeq, Jul 2008] 19 19 q13.33 53189743 53220217 + 48497908 48528410 + 17910069;17307309;12477932;11144225;10502414;8159721;9242638;9013644;20714342;8889548;20195544;19828133;20503194;19950203;2163343;2385294;22449649;9235903;9372912 64100 M0QZH6;M0R006;M0R179;M0R331;Q96BH3 ABBA01033019;ABBA01033020;AC010330;AF279147;AJ278478;AMYH01009896;BC015598;BM661759;BM663735;CH471177;NM_022142 AAH15598;AAK69481;CAC14267;EAW52309;NP_071425;Q96BH3 Hs.104894 1732588;5022718 D19S541;ELSPBP1 E12;EDDM12;HE12 epididymal protein 12;epididymal secretory protein 12;epididymal sperm-binding protein 1 APPROVED protein-coding ENSG00000169393 14417 12119 607443 REVIEWED 1606812 ELP5 elongator acetyltransferase complex subunit 5 17 17 17 p13.1 7180017 7187904 + 7096096 7103987 + 7155372 7163259 + 6480464 16713569;16850183;15489334;12477932;11042152;8889548;8125298;18029348;22854966;21139048;21906983;21963094 23587 I3L1A8;I3L1Q3;I3L200;I3L2A9;I3L2T0;I3L3N8;I3L437;I3NI50;Q8TE02 AB013910;ABBA01054856;AC003688;AF070658;AF087868;AF163262;AK225983;AK289940;AL713741;AMYH01008075;BC002762;BE743557;BF982004;BM970924;BQ648358;CA431021;CA450318;CF135215;CH471108;NM_015362;NM_203413;NM_203414;NM_203415 AAD20964;AAH02762;AAM10496;AAQ13591;BAB87800;BAF82629;CAH56280;EAW90230;EAW90231;EAW90232;NP_056177;NP_981958;NP_981959;NP_981960;Q8TE02 Hs.417029 1649617;1697064;1768073;1768075;2109233;2165439 D17S2159;DERP6_9376;RH102011;RH12882;RH47392;WIAF-2127 C17orf81;DERP6;HSPC002;MST071;MSTP071 S-phase 2 protein;dermal papilla derived protein 6;dermal papilla-derived protein 6;elongator complex protein 5 APPROVED protein-coding ENSG00000170291 30617 08520 615019 VALIDATED 1347532 ELTD1 EGF, latrophilin and seven transmembrane domain containing 1 1 1 1 p33-p32 77595032 77712073 - 79128037 79245083 - 79355449 79472495 - 632805;1580863;6480464 11050079 15203201;18519829;16344560;16335952;15489334;12975309;12477932;11181995;23096411;21782286;23453885 64123 B1AR72;Q9HBW9 AB032017;ABBA01074383;ABBA01074384;ABBA01074385;AC098651;AC099674;AF192403;AK129766;AK172750;AK292894;AK313738;AL596269;AMYH01000725;AY358360;BC025721;CH471059;DA477962;NM_022159 AAG33021;AAH25721;AAQ88726;ADZ15452;BAD18736;BAD83584;BAF85583;BAG36479;EAX06345;EAX06346;NP_071442;Q9HBW9 Hs.132314 1645053;1699326;1699786;1710696;1716809;2146307 RH103250;RH103500;RH121699;RH70233;SHGC-57820;SHGC-79628 ETL;KPG_003 EGF, latrophilin and seven transmembrane domain-containing protein 1;EGF-TM7-latrophilin-related protein;OTTHUMP00000011299 protein-coding ENSG00000162618 20822 VALIDATED 1606547 ELP6 elongator acetyltransferase complex subunit 6 3 3 3 p21.31 47478723 47497105 - 47512134 47530203 - 47537130 47555199 - 6480464 15489334;14702039;12477932;22863883;21987572;21139048;21890473;21906983;22854966;8125298;23106098 54859 C9IYN7;C9J2D6;C9J9N8;C9JA82;C9JEX8;C9JLH5;F8WE64;H7BZM9;Q0PNE2 ABBA01024689;ABBA01024690;AC099778;AK000218;AK225721;AK298202;AMYH01013144;BC000623;BC014204;CH471055;DQ787088;NM_001031703 AAH00623;AAH14204;ABG79574;BAA91017;BAG60472;EAW64827;EAW64828;NP_001026873;Q0PNE2 Hs.311100 1653055;1697234;1769774;2121642;2133544;2152174;2169231;5020274;5020740;5037552 BCD3325;D8S2279;L17809;L18441;L29699;RH102111;RH16660;RH45753;SHGC-57289;WI-22387 C3orf75;FLJ20211;TMEM103 OTTHUMP00000164800;OTTHUMP00000210419;UPF0405 protein C3orf75;angiotonin-transactivated protein 1;elongator complex protein 6;elongator complex protein 6 homolog;transmembrane protein 103 APPROVED protein-coding ENSG00000163832 25976 07884 615020 VALIDATED 1342878 EMB embigin This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009] 5 5 5 q11.1 46639392 46684611 - 49730230 49772958 - 49692031 49737234 - 632509;6480464 9438341 15489334;12477932;8700511;2963822;15024082;21787388;21906983 133418 B7Z902;D6RDX7;Q6PCB8 ABBA01015697;ABBA01015698;AC035145;AC091833;AK300860;AK304226;AMYH01015070;BC059398;CH471123;DC309453;NM_198449;U52054 AAH59398;ADZ16010;BAH13359;BAH14138;EAW54852;EAW54853;EAW54854;NP_940851;Q6PCB8 Hs.561411 1646226;2148623 L28236;SHGC-34214 MGC71745 OTTHUMP00000161812;OTTHUMP00000221477;OTTHUMP00000221478;OTTHUMP00000221479;embigin;embigin homolog APPROVED protein-coding ENSG00000170571 30465 13271 REVIEWED 1602050 EMC10 ER membrane protein complex subunit 10 19 19 19 q13.33 48029877 48036747 + 55671548 55678420 + 50979736 50986608 + 6480464 15146197;12975309;12477932;19570817;20379614;20680400;22119785;21906983 284361 M0QYY4;M0R030;M0R1B7;M0R2A0;Q5UCC4 ABBA01068319;AC020909;AL512761;AMYH01009939;AMYH01009940;AY194293;AY358710;AY761095;AY761097;BC032948;BC035001;BC062607;BI914408;BX366174;CH471135;CN423491;NM_175063;NM_206538 AAH32948;AAH35001;AAO23975;AAQ89073;AAV30543;AAV30545;CAH10658;EAW71871;EAW71872;EAW71873;NP_778233;NP_996261;Q5UCC4 Hs.448941;Hs.515550 5016783 RH98508 C19orf63;HSM1;HSS1;INM02;MGC33203 ER membrane protein complex subunit 10;UPF0510 protein INM02;hematopoietic signal peptide-containing;hematopoietic signal peptide-containing membrane domain-containing 1;hematopoietic signal peptide-containing membrane domain-containing protein 1;hematopoietic signal peptide-containing secreted 1 APPROVED protein-coding ENSG00000161671 27609 14153 614545 VALIDATED 1321326 EMC2 ER membrane protein complex subunit 2 8 8 8 q23.1 105642999 105686297 + 109525029 109568312 + 109455853 109499136 + 737633;1580863;6480464 12477932 10942595;16189514;15489334;14702039;11593002;8125298;7788527;17207965;20877624;22119785;21139048;21890473 9694 E5RGJ2;H0YAS9;Q15006 ABBA01037704;ABBA01037705;AC022634;AK057571;AK222615;AK290974;AMYH01018956;AP002088;BC007027;BC020753;BC021667;CH471060;CR457402;D14659;NM_014673 AAH20753;AAH21667;ADQ31637;BAA03493;BAD96335;BAF83663;CAG33683;EAW91920;NP_055488;Q15006 Hs.654351 1857596;2122346;2136872;2181093;5093116 A009G21;D8S1911;G32529;RH25330;RH66201 KIAA0103;TTC35 ER membrane protein complex subunit 2;OTTHUMP00000227775;TPR repeat protein 35;tetratricopeptide repeat domain 35;tetratricopeptide repeat protein 35 APPROVED protein-coding ENSG00000104412 28963 09657 607722 PROVISIONAL 1312839 EMC7 ER membrane protein complex subunit 7 15 15 15 q14 11178721 11196565 - 32163515 32181345 - 34376223 34394053 - 737633;6480464 12477932 10873569;12975309;18029348;17165166;15489334;21987572;21139048;21890473;21906983;22119785;22645275 56851 H0YDT8;H0YDX2;Q9NPA0 ABBA01038544;ABBA01038545;AC069045;AC079203;AF242729;AJ245874;AJ250344;AK314883;AMYH01006510;AY358445;BC012456;BC104934;BC104936;CH471125;NM_020154 AAG44477;AAH12456;AAI04935;AAI04937;AAQ88810;BAG37397;CAB96539;CAC01611;EAW92284;EAW92285;EAW92286;NP_064539;Q9NPA0 Hs.160565 1695320;5015963 CC530576;SHGC-64737 C11orf3;C15orf24;HT022;ORF1-FL1 OTTHUMP00000159729;OTTHUMP00000231951;OTTHUMP00000231952;UPF0480 protein C15orf24;chromosome 15 hypothetical ATG/GTP binding protein;chromosome 15 open reading frame 24 APPROVED protein-coding ENSG00000134153 24301 12670 VALIDATED 1602125 EMC1 ER membrane protein complex subunit 1 This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012] 1 1 1 p36.13 17871571 17905031 - 19417171 19450633 - 19542158 19578053 - 6480464 21145461;16344560;17353931;16710414;16303743;15489334;14702039;12477932;7788527;20095854;20171287;16335966;22939629;22119785;21139048;21890473;21906983;22190034;22268729 23065 H7C4E3;H7C5A2;Q5TG59;Q8N766 ABBA01059754;ABBA01059755;AK025853;AK075563;AK124379;AK124740;AK291618;AL035413;AL357564;AMYH01000314;BC016303;BC034589;BX648627;BX648708;CH471134;D42044;DB097686;NG_032948;NM_001271427;NM_001271428;NM_001271429;NM_015047 AAH34589;BAA07645;BAC11702;BAF84307;CAH56140;CAH56165;EAW94870;EAW94871;EAW94872;NP_001258356;NP_001258357;NP_001258358;NP_055862;Q8N766 Hs.439200 1687371;1696016;1732854;1771810;1775784;2131653;2163852;2176487;5015404;5015619;5016596;5016781;5022651;5117897 D11S2921;D11S3114;D1S1288;GDB:631802;GDB:631813;L17705;L17813;RH25318;SHGC-67307;SHGC-74286;SHGC-74301;SHGC-82794;WI-11429;WI-14328 KIAA0090;RP1-43E13.1 ER membrane protein complex subunit 1;OTTHUMP00000002581;OTTHUMP00000002582;OTTHUMP00000215527;hypothetical protein LOC23065;uncharacterized protein KIAA0090 APPROVED protein-coding ENSG00000127463 28957 08306 REVIEWED 6481107 EMCN-IT1 EMCN intronic transcript 1 (non-protein coding) 100874277 AC034150 miscrna 41420 6481106 EMCN-IT2 EMCN intronic transcript 2 (non-protein coding) 100874276 AC034150 miscrna 41419 6481109 EMCN-IT3 EMCN intronic transcript 3 (non-protein coding) 4 101581436 101596270 - 100874275 AA446329;AA446509;ABBA01063684;AC034150;AC116174;AMYH01014426;NR_046811 Hs.136318 1700790 RH104020 miscrna ENSG00000250223 41418 PREDICTED 1606492 EMC6 ER membrane protein complex subunit 6 17 17 17 p13.2 3585832 3586704 + 3518839 3519711 + 3572090 3572962 + 6480464 16341674;15489334;12477932;22119785;23182941 83460 Q9BV81 ABBA01054742;AC132942;AMYH01008032;BC001409;BM825446;BQ277705;CH471108;NM_001014764;NM_031298 AAH01409;EAW90490;NP_001014764;NP_112588;Q9BV81 Hs.30011 1760259;1767337;1847322 RH78618;SHGC-132568;SHGC-36073 MGC2963;TMEM93 ER membrane protein complex subunit 6;transmembrane protein 93 APPROVED protein-coding ENSG00000127774 28430 14529 VALIDATED 1601753 EMC3 ER membrane protein complex subunit 3 3 3 3 p25.3 9941078 9963960 - 9980636 10003524 - 10005636 10028522 - 6480464 15489334;14702039;12477932;10931946;8125298;17207965;16196087;19797678;22119785;21139048 55831 C9JLM9;Q9P0I2 ABBA01020396;AC018809;AC022007;AF157321;AK172843;AK222953;AK312008;AMYH01012966;BC010883;BC022807;CH471055;CQ834268;NM_018447 AAF67487;AAH22807;ADQ32234;BAD18807;BAD96673;BAG34946;CAH05349;EAW64047;NP_060917;Q9P0I2 Hs.475392 2121170;2132756 D3S2873E;D3S3950 POB;TMEM111 30 kDa protein;ER membrane protein complex subunit 3;OTTHUMP00000158825;partial optokinetic response b;transmembrane protein 111 APPROVED protein-coding 23999 17426 PROVISIONAL 1605682 EMC4 ER membrane protein complex subunit 4 15 15 15 q14 11319812 11324924 + 32304537 32309649 + 34517245 34522357 + 6480464 18586032;16303743;15489334;14702039;12477932;11042152;16751776;22119785;21139048;21906983;22053931 51234 H0YK61;H0YKL2;H0YLG4;H0YLP8;H0YMH5;H0YN63;H0YNK0;H0YNK8;Q5J8M3 ABBA01038542;AC079203;AF151018;AK075227;AK290524;AMYH01006511;AY336092;BC002583;BC016348;CH471125;CQ783331;NM_016454 AAF36104;AAH02583;AAR24622;BAC11486;BAF83213;CAF86541;EAW92292;EAW92293;EAW92294;NP_057538;Q5J8M3 Hs.250905 FLJ90746;MGC24415;PIG17;TMEM85 ER membrane protein complex subunit 4;OTTHUMP00000159778;cell proliferation-inducing gene 17 protein;proliferation-inducing gene 17;transmembrane protein 85 APPROVED protein-coding ENSG00000128463 28032 14233 PROVISIONAL 1322563 EMC8 ER membrane protein complex subunit 8 16 16 16 q24 70115308 70136230 - 84369736 84390601 - 85812230 85833148 - 1580863;6480464 10337626;16189514;15489334;15342556;12477932;19724895;19851296;20198315;20819778;21832049;18781797;21139048;21890473;21906983;22119785;22053931 10328 M0R1B0;O43402;Q53Y03 ABBA01034279;AC018695;AF005888;AF005889;AK313977;AMYH01007889;BC001472;BC005886;BC007445;BC020250;BE855452;BP307869;BT007132;CH471114;NM_001142288;NM_006067 AAB94489;AAB94820;AAH01472;AAH05886;AAH07445;AAH20250;AAP35796;BAG36691;EAW95439;EAW95440;NP_001135760;NP_006058;O43402 Hs.173162 1645980;1647704;1699838;2109569;2157858 NOC4_9092;RH103526;SHGC-37143;STS-AA011496;STS-AA028000 C16orf2;C16orf4;COX4NB;FAM158B;NOC4 COX4 neighbor;ER membrane protein complex subunit 8;OTTHUMP00000175002;family with sequence similarity 158, member B;neighbor of COX4 APPROVED protein-coding ENSG00000131148 7864 05350 604886 VALIDATED 1317698 EMC9 ER membrane protein complex subunit 9 14 14 14 q11.2 4472644 4475265 - 23678014 23680637 - 24608174 24610797 - 6480464 16189514;15489334;12477932;10810093;22119785;23382691 51016 H0YKG4;H0YNH6;Q9Y3B6 ABBA01061333;AF151870;AL136295;AMYH01005610;AY368908;BC002491;CH471078;NM_016049 AAD34107;AAH02491;AAQ83690;EAW66103;EAW66104;NP_057133;Q9Y3B6 Hs.271614 1659237;1687942;1730335;2182099 D14S92E;RH75843;RH78603;WI-18096 C14orf122;CGI-112;FAM158A ER membrane protein complex subunit 9;OTTHUMP00000164685;OTTHUMP00000164687;UPF0172 protein FAM158A;family with sequence similarity 158, member A;hypothetical protein LOC51016 APPROVED protein-coding ENSG00000100908 20273 16596 PROVISIONAL 1602001 EMCN endomucin EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008] 4 4 q24 101538004 101658202 - 101316498 101439250 - 6480464 22566498;18029348;15489334;15249540;14722670;12485444;12477932;12087473;12000719;11594763;11418125;8125298;20379614;21159824;21666600 51705 D6RHW5;H0YAA7;Q4W5J1;Q9ULC0 AB034695;ABBA01063682;ABBA01063683;AC097459;AF205940;AK026875;AK222741;AK291831;AK304568;AK313504;AL133118;AMYH01014426;AY039241;BC017781;BG506923;CH471057;CS104348;NM_001159694;NM_016242 AAF76295;AAH17781;AAK68660;AAY41011;BAA86228;BAD96461;BAF84520;BAG36284;BAG65359;CAJ01219;EAX06121;EAX06122;NP_001153166;NP_057326;Q9ULC0 Hs.152913 1683283;1849077;1855223;2125592;2125594;2148178;2150226;2166926;2171494;2175546;5022578;5093970 A009Z43;D1S1423;D4S444;G33030;RH98916;SHGC-24789;SHGC-36015;SHGC-50369;SHGC-50547;SHGC-51393;SHGC-59859;STS-N22495 EMCN2;MUC14 MUC-14;OTTHUMP00000161682;OTTHUMP00000219639;OTTHUMP00000219640;endomucin;endomucin-2;gastric cancer antigen Ga34;mucin-14 APPROVED protein-coding ENSG00000164035 16041 12220 608350 VALIDATED 1349411 EMID1 EMI domain containing 1 22 22 22 q12.2 13401847 13455450 + 27931953 27985586 + 29601901 29655586 + 737633;1580863;6480464 12477932 12221002;15489334;15461802;14702039;19913121;20628086 129080 B0QYK2;B0QYK3;B0QYK4;B0QYK5;F8WDX7;H0Y6W4;Q96A84 ABBA01055258;ABBA01055259;ABBA01055260;AJ416090;AK097163;AL031186;AL831910;AMYH01012695;BC013830;BC046358;CH471095;CR456407;NM_001267895;NM_133455;Z95116 AAH46358;CAC94777;CAD38573;CAG30293;CAK54396;CAK54695;EAW59776;EAW59777;NP_001254824;NP_597712;Q96A84 Hs.289106 1680589;1732067;2107049;5022578;5109281 D1S1423;D1S1425;D22S448;EMID1__7584;RH80380 EMI5;EMU1;MGC50657;hEmu1 EMI domain-containing protein 1;OTTHUMP00000198943;OTTHUMP00000198997;OTTHUMP00000198998;emilin and multimerin domain-containing protein 1;emilin and multimerin-domain containing protein 1;putative emu1 protein-coding ENSG00000186998 18036 09936 608926 VALIDATED 1344240 EME2 essential meiotic structure-specific endonuclease subunit 2 EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 2035508 2038518 + 1763230 1766240 + 1823229 1826239 + 6480464 17289582;12721304;12477932;11157797 197342 A4GXA9;H3BSZ6;H3BV62 ABBA01030296;AC012180;AE006639;AK074080;AMYH01007040;BC041011;CH471112;EF452422;NM_001257370 A4GXA9;AAI67808;AAK61292;ABO21766;BAB84906;EAW85626;NP_001244299 Hs.7247 1698906;1796354;2180351 MRPS34_1407;RH103022;RH36357 FLJ00151;SLX2B;gs125 SLX2 structure-specific endonuclease subunit homolog B;essential meiotic endonuclease 1 homolog 2;homolog of yeast EME1 endonuclease 2;probable crossover junction endonuclease EME2 APPROVED protein-coding ENSG00000197774 27289 16859 610886 VALIDATED 1319200 EME1 essential meiotic structure-specific endonuclease 1 This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 q21.33 45805589 45813817 + 48450581 48458820 + 1580863;6480464;6907045 16751776;19267403;19017809;18559551;18413719;18310322;17081983;16456034;15489334;15302935;14702039;14617801;14609959;12721304;12686547;12477932;19394292;16344560;19596235;19596236;20522537;20734064;19714462;20610542;21832049;21859861;21858151;19595721 146956 D6RIT8;F8W714;H0Y9Z4;Q96AY2 ABBA01041239;AC004707;AK021607;AK055926;AK308275;AMYH01008471;BC016470;CH471109;DA006645;DB245967;DQ578819;NG_029665;NM_001166131;NM_152463 AAH16470;ADZ15456;BAB71047;EAW94617;EAW94618;EAW94619;EAW94620;EAW94621;NP_001159603;NP_689676;Q96AY2 Hs.514330 1725759;1774306;2107047;2133631;2133633;2143934;2189513 A006I13;EME1__7583;G20838;G62125;G73139;SGC32559;WI-11424 FLJ31364;MMS4L;SLX2A MMS4 homolog;OTTHUMP00000221188;OTTHUMP00000221189;OTTHUMP00000221193;SLX2 structure-specific endonuclease subunit homolog A;crossover junction endonuclease EME1;essential meiotic endonuclease 1 homolog 1;essential meiotic endonuclease 1 homolog 2;hMMS4;homolog of yeast EME1 endonuclease APPROVED protein-coding ENSG00000154920 24965 610885 REVIEWED 735605 EMD emerin Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008] X X q28 153260981 153263075 + 153607597 153609883 + 1598907;1580863;6480464;6907045;7240710 7894480 8595407;15009215;16169070;8589715;18029348;19302538;19126678;19022376;18646565;18400857;18266676;17785515;17652388;17620497;17536044;17462627;17117676;17097067;17081983;17067998;16997877;16858403;16823856;16761279;16680152;16481476;16381901;16371512;16283426;16246140;16212419;16204256;16189514;16094384;15681850;15592455;15489336;15489334;15328537;15144186;15109603;12783988;12755701;12670476;12665801;12493765;12477932;12163176;11973618;11792822;11792821;11587540;11470279;11435115;11173535;11076863;11034899;10965799;10673356;10323252;9673989;9472006;9442884;9361031;8733135;8655156;8248200;16738646;19913121;20628086;20562859;11256614;15671068;19323649;19759913;19789182;20054742;20474083;19454010;19727227;21145461;17620012;21182205;22990118;21486941;22939629;16196087;19167051;20360068;21081666;21697856;21900206;21139048;21890473;21906983;21987572;21907836;21628590;20301609;22480903;17725712;23398456;17110338;19738201;19805454;21565611;21963094;23275444;23438482;20937808;22797925 2010 F8WEQ1;P50402;Q5HY57 ABBA01045290;AC245140;AMYH01023315;BC000738;BT007401;BX936346;CH471172;CR536536;CX781694;D64111;L44140;NG_008677;NM_000117;X82434;X86810 AAA92645;AAH00738;AAP36065;BAA10972;CAA57817;CAA60500;CAG38773;CAL38599;EAW72742;EAW72743;NP_000108;P50402 Hs.522823 1648781;1702002;1813654;1813964;1815960;1832296;1832518;2036734;2036736;2036738;2036740;2036742;2036744;2036746;2036748;2036750;2036752;2036754;2036756;2036758;2036760;2036762;2036764;2036766;2036768;2036770;2036772;5094496;5117076 ECD07850;ECD08009;ECD09020;ECD17287;ECD17398;G54831;GDB:434880;REN89376;REN89377;REN89378;REN89379;REN89380;REN89381;REN89382;REN89383;REN89384;REN89385;REN89386;REN89387;REN89388;REN89389;REN89390;REN89391;REN89392;REN89393;REN89394;REN89395;UniSTS:99059;WI-18472 EDMD;LEMD5;STA LEM domain containing 5;OTTHUMP00000031938;OTTHUMP00000064894;emerin;emerin (Emery-Dreifuss muscular dystrophy) APPROVED protein-coding ENSG00000102119 3331 02309 300384;310300 REVIEWED 1607076 EMG1 EMG1 N1-specific pseudouridine methyltransferase This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010] 12 12 12 p13.3 8700963 8706185 + 6950255 6955404 + 7079944 7085165 + 6480464;6907045;7240710 15590835;19463982;18950845;16344560;15489334;12477932;11935223;11790298;11694595;9074930;8889548;7566098;16169070;17207965;15578624;21832049;22939629;18274552;18781797;21139048;21890473;22178446;19738201;23000965;23151878;22174317;22505724 10436 Q92979 AA314580;ABBA01017670;AC006512;AI394112;AK291597;AK298207;AK298745;AMYH01004212;BC055314;BM709304;BQ015307;CD704778;CH471116;DA070200;DC403138;NG_021408;NM_006331;U47924;U56427;U72514 AAB51325;AAC51641;AAH55314;ADQ32241;BAF84286;BAG60477;BAG60889;EAW88694;EAW88695;EAW88696;EAW88697;EAW88698;NP_006322;Q92979 Hs.744040 1336540;1658902;1665352;1680305 D12S397;RH11325;RH26657;SHGC-33346 BWCNS;C2F;FLJ60792;Grcc2f;NEP1 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1;18S rRNA Psi1248 methyltransferase;EMG1 nucleolar protein homolog;essential for mitotic growth 1;probable ribosome biogenesis protein NEP1;ribosomal RNA small subunit methyltransferase NEP1;ribosome biogenesis protein NEP1 APPROVED protein-coding 16912 12803 211180;611531 REVIEWED 1343308 EML1 echinoderm microtubule associated protein like 1 Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q32 80314618 80463271 + 99329498 99478150 + 100259745 100408397 + 1580863;6480464 9226380;16189514;14702039;12477932;11829466;10521658;9738858;9110174;8619474;1478676;20734064;19060904;21145461 2009 F8W717;G3V3J1;G3V3N9;G3V497;G3V4H6;G3V4U5;G3V500;G3V538;G3V5C8;H0YJD8;H0YJK4;H0YJS9;H0YJY3;O00423 ABBA01048545;ABBA01048546;ABBA01048547;AF035276;AJ420603;AK023861;AK126980;AK299812;AK307925;AL133368;AL136000;AMYH01006001;BC032541;BC033043;BX247979;BX420178;BX442035;CH471061;NM_001008707;NM_004434;U97018 AAB57824;AAH32541;AAH33043;ABM82482;ABM85669;BAG54415;BAH13136;CAD12600;CAD62313;EAW81679;EAW81680;EAW81681;NP_001008707;NP_004425;O00423 Hs.12451 1670682;1705730;1707718;1721583;1754099;1849059;1857466;2114205;2138131;2138133;2170132;2174293;5015961;5022450;5037552 A006W48;D10S275;D14S1344;D14S849;D14S880;D14S957;D15S1477;D8S2279;G35545;G59801;RH11233;SHGC-132135;SHGC-82074;SHGC-83453;WI-18369 ELP79;EMAP;EMAPL;FLJ45033;HuEMAP EMAP-1;OTTHUMP00000246326;OTTHUMP00000246329;OTTHUMP00000246330;echinoderm microtubule-associated protein-like 1;huEMAP-1 APPROVED protein-coding ENSG00000066629 3330 03613 602033 REVIEWED 1320036 EMILIN3 elastin microfibril interfacer 3 20 20 20 q12 36699272 36706164 - 39422020 39428912 - 39988606 39995498 - 6480464 18158787;15489334;14706625;12477932;12221002;11780052;22334695;20562859 90187 Q495S5;Q9NT22 AB089149;ABBA01052577;AL031667;AL137580;AMYH01011913;BC101043;BC101044;BC101045;BC101046;CH471077;NM_052846 AAI01044;AAI01046;AAI01047;BAD11034;CAB70822;EAW75983;EAW75984;NP_443078;Q9NT22 Hs.726525 2117483;2118468;2183657 RH69661;SHGC-34161;STS-R52161 C20orf130;DKFZp434A2410;EMILIN5;dJ620E11.4 EMILIN-3;EMILIN-5;OTTHUMP00000043611;elastin microfibril interface-located protein 3;elastin microfibril interface-located protein 5;elastin microfibril interfacer 5 protein-coding ENSG00000183798 16123 12335 608929 VALIDATED 1313316 EMILIN2 elastin microfibril interfacer 2 18 18 18 p11.3 2722463 2789538 + 2837028 2904090 + 2847028 2914090 + 1580863;6480464 14702039;16751776;11278945;17988845;17698584;12477932;20360940;20379614;19913121;20628086;22268729 84034 Q9BXX0 AB026706;ABBA01049837;ABBA01049838;ABBA01049839;AF270513;AI356740;AK090519;AL552384;AMYH01008777;AP000919;AP001011;BC032231;BC136541;BX398832;CH471113;DQ590092;NM_032048 AAH32231;AAI36542;AAK37963;BAB61020;BAC03470;EAX01690;NP_114437;Q9BXX0 Hs.532815 1335178;1672316;1681388;1731721;1731741;1748615;2108755;2167399 D18S1027;D18S1098;D18S1301;D18S503;D18S513;EMILIN2__7586;RH98472;SHGC-110275 EMILIN-2;FLJ33200;FOAP-10 EMILIN-2;OTTHUMP00000158648;elastin microfibril interface-located protein 2;extracellular glycoprotein EMILIN-2 protein-coding 19881 09937 608928 VALIDATED 1322548 EMILIN1 elastin microfibril interfacer 1 This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009] 2 2 p23.3-p23.2 27155438 27162767 + 27301435 27309271 + 1580958;1580863;6480464 16530041 10821830;10358019;18564921;18463100;18411305;18029348;17988845;16303743;16263699;16189514;16021519;15489334;15146197;15017143;12477932;12456677;11278945;11012893;10625608;22814752;22639547;20701466;14701737;19023665;19922630;20186130;21753788;17609108 11117 H0Y7A0;Q9Y6C2 ABBA01045192;AC013403;AF088916;AF162780;AK075517;AK307539;AL050138;AL552691;AMYH01010194;BC007530;BC009947;BC017284;BC090957;BC136279;BC142638;BC142688;CH471053;CN350368;NM_007046 AAD42161;AAF25006;AAH07530;AAH09947;AAI36280;AAI42689;AAX93166;CAB43287;EAX00644;EAX00645;EAX00646;EAX00647;NP_008977;Q9Y6C2 Hs.63348 1338618 D2S2247 DKFZp586M121;EMI;EMILIN;EMILIN-1;gp115 EMILIN-1;OTTHUMP00000122584;elastin microfibril interface located protein;elastin microfibril interface-located protein 1 APPROVED protein-coding ENSG00000138080 19880 00563 130660 REVIEWED 2302327 EML6 echinoderm microtubule associated protein like 6 2 2 2 p16.1 54792667 55039644 + 54805659 55051435 + 54952149 55199157 + 6480464 19553259;20379614;22566634 400954 Q6ZMW3 ABBA01075257;ABBA01075258;ABBA01075259;AC013414;AC093110;AC104781;AK124553;AK131467;AMYH01010361;AMYH01010362;BX647078;CH471053;NM_001039753 BAD18612;EAX00135;NP_001034842;Q6ZMW3 Hs.656692 1341458;1673126;1695218;1703292;1727485;1734938;1751547;1753099;1772571;1787916;1857096;2110991;2114068;2164416;5014051;5022200;5022651;5037552;5095213 A002P20;AB049853;Clen44;D11S2921;D2S1264;D2S1700E;D2S1848;D2S233E;D8S2278;D8S2279;G63000;L18426;RH36063;RH36073;SHGC-105348;SHGC-173660;SHGC-62924;SHGC-68401;SHGC-68479 DKFZp686G14111;FLJ16635;FLJ42562 EMAP-6;OTTHUMP00000209199;echinoderm microtubule-associated protein-like 5-like;echinoderm microtubule-associated protein-like 6 protein-coding ENSG00000214595 35412 VALIDATED 734198 EML2 echinoderm microtubule associated protein like 2 19 19 19 q13.32 42918762 42954890 - 50804498 50834509 - 46112658 46148775 - 1580863;6480464 17353931;10521658;15489334;12477932;11694528;8125298;18029348;21693764;21906983;22589738;19322201 24139 C9JRL6;K7EII6;K7EIK7;K7EIM1;K7EIZ0;K7EJV6;K7EKG3;K7EKU5;K7EL23;K7ELB2;K7ELI8;K7EQR0;K7ERR2;K7ERR9;K7ERY9;K7ESL7;O95834 AB209773;ABBA01040936;ABBA01040937;AC006132;AC011480;AC098776;AF103939;AK026616;AK225043;AK294668;AK295905;AK296258;AK302961;AK304299;AK308403;AL096717;AMYH01009854;BC029304;BC032630;CH471126;DC366776;NM_001193268;NM_001193269;NM_012155;NR_034098 AAD19904;AAH32630;BAD93010;BAH11841;BAH12218;BAH12295;BAH13858;BAH14154;CAB46373;EAW57369;EAW57370;NP_001180197;NP_001180198;NP_036287;O95834 Hs.24178 1778165;2149116;5022578 D1S1423;RH46541;RH48306 ELP70;EMAP-2;EMAP2 echinoderm MT-associaated protein (EMAP)-like protein 70;echinoderm MT-associated protein (EMAP)-like protein 70;echinoderm microtubule-associated protein-like 2;huEMAP-2;microtubule-associated protein like echinoderm EMAP protein-coding ENSG00000125746 18035 16860 VALIDATED 1606414 EML3 echinoderm microtubule associated protein like 3 11 11 11 q12.3 59699256 59709802 - 62126267 62136813 - 62369691 62380237 - 6480464 17353931;18445686;15324660;15225882;15146197;14744259;14702039;12477932;20360068;21987572;21139048;21890473;21906983;22053931;22190034;22505724 256364 B7WPE2;C9J6V3;E9PJV5;E9PSB4;G3V195;G3V1D0;H0Y3M3;H7C355;Q32P44 ABBA01003230;AK093146;AK128679;AK296901;AK310579;AL833388;AMYH01003690;AP001458;BC050467;BC075824;BC108280;CH471076;CN386216;CN386217;NM_153265 AAI08281;BAC04073;BAC87566;BAG59459;EAW74033;EAW74034;EAW74035;EAW74036;EAW74037;EAW74038;EAW74039;EAW74040;NP_694997;Q32P44 Hs.379785 2157917;2191655;2191679;5024545 D1S3695;MARC_4123-4124:996679395:1;MARC_4683-4684:996679606:1;RH46908 ELP95;FLJ35827;MGC111422 EMAP-3;OTTHUMP00000194699;OTTHUMP00000194700;OTTHUMP00000194701;OTTHUMP00000236318;OTTHUMP00000236319;OTTHUMP00000236320;echinoderm microtubule-associated protein-like 3 protein-coding ENSG00000149499 26666 08193 VALIDATED 1350172 EML5 echinoderm microtubule associated protein like 5 14 14 14 q31.3 69126811 69307471 - 88150954 88328910 - 89081174 89259096 - 6480464 15225882;14702039;12477932 161436 H0YJ79;H0YJS1;H0YJX1;J3KNC1;Q05BV3 ABBA01030525;ABBA01030526;ABBA01030527;AK122824;AK127024;AK128086;AL121768;AL162171;AMYH01005936;AY357725;BC032685;BC042055;BC150639;BM893636;BX648569;CH471061;CR933726;NM_183387 AAH32685;AAI50640;AAQ62653;BAC86793;BAC87266;CAI46257;EAW81393;EAW81394;NP_899243;Q05BV3 Hs.325846 1338696;1850041;2121792;2143279;2143412;2151343;2182584;5110559;7186877 D14S1346;D14S256;G17815;G36135;G36207;RH44786;STS-F09981;WI-20639 DKFZp781D1122;EMAP-2;HuEMAP-2 EMAP-5;OTTHUMP00000244468;OTTHUMP00000244470;echinoderm microtubule-associated protein-like 5 protein-coding ENSG00000165521 18197 16861 VALIDATED 735990 EMP1 epithelial membrane protein 1 12 12 p12.3 13240924 13260975 + 13349602 13369708 + 1342449;1580863;6480464 9126480 8996089;7499420;8884260;16087880;15489334;12632483;12477932;12451984;10331954;9066625;8683158;20800603;19288191;20980531;21146590;21538935 2012 B4DRR1;F5GYV0;F5H2P5;F5H397;J3KQX4;P54849 ABBA01067857;AC022276;AC079628;AK299388;AK308505;AK310798;AK312246;AMYH01004292;BC017854;BC047300;CH471094;DC372133;NM_001423;U43916;U77085;Y07909;Z50751 AAC51207;AAC51783;AAH17854;AAH47300;BAG35178;BAG61373;CAA69217;CAA90627;EAW96304;EAW96305;EAW96306;NP_001414;P54849 Hs.719042 1338253;1651612;1693918;1705884;1725879;1736290;1778379;2115417;5105885 D12S1239E;D12S1580;G42649;G62401;RH69862;RH77807;RH78445;SHGC-150875;SHGC-81206 CL-20;EMP-1;TMP OTTHUMP00000239425;OTTHUMP00000239429;OTTHUMP00000239450;epithelial membrane protein 1;tumor-associated membrane protein protein-coding ENSG00000134531 3333 11892 602333 VALIDATED 1351948 EML4 echinoderm microtubule associated protein like 4 2 2 p21 42250020 42413192 + 42396490 42559688 + 1580863;6480464 17353931;10995578;18927303;18594010;18593892;18414414;18320074;18242762;18166835;18083107;17625570;17081983;16890222;15815621;15592455;15489334;15302935;22722791;22706607;14702039;12477932;9110174;8619474;16169070;20624322;20578368;19147828;19667264;19737969;20183914;21356191;21420271;21036415;22056890;22124476;21139048;19322201;23154565;22736493;23169500 27436 B5MBZ0;F2Z2B5;Q6PJ45 ABBA01075060;AC006038;AC083949;AC096668;AF131753;AF177377;AK001804;AK021782;AK056880;AK172777;AK295778;AK314702;AL832392;AMYH01010286;BC008685;BC023522;BC038351;BC067777;BC104647;BC140845;BC146799;BX647693;BX647731;CH471053;DB471322;NM_001145076;NM_019063 AAG09279;AAH08685;AAH23522;AAI04648;AAI40846;AAI46800;AAX82006;AAY14895;AAY15086;BAA91919;BAG37250;BAG58601;EAX00324;NP_001138548;NP_061936;Q9HC35 Hs.713173 1648151;1663877;1663879;1671458;1673187;1701340;1710748;1713711;1727607;1734224;1734234;1851829;2109283;2114066;2117477;2134241;2148142;2157199;2162171;5093550 A005V45;A009Q32;AB060200;D2S1490;D2S1493E;D2S2932;EML4_9555;G16517;G20544;G32785;G63212;RH104300;RH120737;RH45622;RH47190;RH69220;SHGC-32692;SHGC-84006;STS-AA019077;WI-14803 C2orf2;DKFZp686P18118;ELP120;EMAP-4;EMAPL4;FLJ10942;FLJ32318;ROPP120 OTTHUMP00000158762;OTTHUMP00000201447;OTTHUMP00000201455;echinoderm microtubule-associated protein-like 4;restrictedly overexpressed proliferation-associated protein;ropp 120 protein-coding ENSG00000143924 1316 06310 607442 VALIDATED 731841 EMP3 epithelial membrane protein 3 19 19 q13.3 53520454 53525622 + 48828629 48833810 + 1580863;6480464 12477932;8996089;19270820;18823699;17610521;17187361;16015083;15583422;15489334;12107182;10331954;9204931;8917086;8884260;20388442;21988832;22992787 2014 M0QXN1;M0QXS0;M0QZ66;M0R122;M0R1L9;P54852 ABBA01033000;AC008392;AL541088;AMYH01009900;BC009718;BT007124;CH471177;CR456871;CR541955;NM_001425;U52101;U87947;X94771 AAC50920;AAC51730;AAH09718;AAP35788;ABM84749;ABM92261;CAA64394;CAG33152;CAG46753;EAW52333;EAW52334;NP_001416;P54852 Hs.9999 1678189;1686286;2149081 RH44868;RH71237;RH79835 YMP EMP-3;HNMP-1;epithelial membrane protein 3;hematopoietic neural membrane protein 1 protein-coding ENSG00000142227 3335 18514 602335 VALIDATED 1352342 EMWX episodic muscle weakness, X-linked 7240710 10486330 10118 1337781;1702166;7184881 DXS7104;DXS85 3339 1344065 EMP2 epithelial membrane protein 2 16 16 p13.2 10533476 10582040 - 10622279 10674539 - 1580863;6480464 8996089;8884260;19010852;18400107;17609206;17544801;16344560;16216233;15489334;14702039;12710941;12477932;11752456;11713717;10331954;8917086;12782127;20732626;20670949;16341674;23568457;21637765;23319000 2013 P54851 AA854747;ABBA01006794;ABBA01006795;AC027277;AF190163;AK096403;AK123602;AK127600;AK313134;AMYH01007151;AMYH01007152;AV657588;AY057060;BC009687;BC016019;BF981157;BM755118;BQ676037;BU838264;CH471112;DA752772;NM_001424;U52100;X94770 AAC51779;AAH09687;AAL27085;AAQ13707;BAG35953;CAA64393;EAW85180;EAW85181;EAW85182;NP_001415;P54851 Hs.531561 1649037;1679826;1686226;1689340;1763911;1765377;1766109;1852604;2143134;2153345;5015404;5016478;5016596;5020948;5022322;5022578;5037552;5117016 D11S2560;D16S3221;D1S1423;D8S2279;EMP2;G35510;GDB:434012;GDB:631802;L17705;RH65260;RH66599;RH70402;RH71236;RH81007;RH99305;SHGC-147579;SHGC-148864;SHGC-149494 MGC9056;XMP EMP-2;OTTHUMP00000160171;OTTHUMP00000237791;epithelial membrane protein 2 protein-coding ENSG00000213853 3334 11893 602334 VALIDATED 1345702 EMR2 egf-like module containing, mucin-like, hormone receptor-like 2 This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 19 19 p13.1 14704205 14750353 - 14843509 14889353 - 15203201;18267122;17928360;17174274;15150276;15057824;14702039;12860403;12829604;12477932;11994511;11297558;10903844;8125298;15498814;20167235;20237496;21174063;21503828;21906983;22035891;22310662;22318606;12428789;12761622;14647991;15693006;16918507;17056209;17449467;17620333;19124473 30817 A0JNV7;B4DQ88;B4DWB8;M0QY55;M0R0K5;Q9Y4B1 AB065931;ABBA01051078;ABBA01051079;ABBA01051080;AC004262;AC005327;AC090427;AF114491;AK024426;AK024454;AK222891;AK291776;AK298690;AK298700;AK301458;AMYH01009539;BC034949;BC053933;BC082991;BC127004;BC127005;BG720310;BG721006;CH471106;CN480316;CR936819;NM_001271052;NM_013447 AAC05172;AAC27673;AAF21974;AAH34949;AAH53933;AAI27005;AAI27006;BAB15716;BAB15744;BAC06146;BAD96611;BAF84465;BAG60850;BAG60858;BAG62980;EAW84445;EAW84446;EAW84447;EAW84448;NP_001257981;NP_038475;Q9UHX3 Hs.531619 1689991;1797498;5037552 D8S2279;EMR2_1829;RH75658 CD312;DKFZp781B135 EGF-like module receptor 2;EGF-like module-containing mucin-like hormone receptor-like 2;egf-like module containing, mucin-like, hormone receptor-like sequence 2 APPROVED protein-coding ENSG00000127507 3337 07308 606100 REVIEWED 1606765 EMR3 egf-like module containing, mucin-like, hormone receptor-like 3 This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14623224 14678909 - 14591051 14646730 - 14730051 14785730 - 6480464 15203201;17108056;20827226;17081983;12975309;12477932;11279179;20237496;20625511 84658 E7EW83;M0QYN7;M0R1G2;Q9BY15 ABBA01051075;ABBA01051076;ABBA01051077;AC022149;AC090427;AC135052;AF239764;AK290909;AK298653;AL832663;AMYH01009537;AMYH01009538;AMYH01009539;AW450761;AY358817;BC121130;BC121131;BC128053;BC142639;BC148282;CH471106;NM_032571 AAI21131;AAI21132;AAI28054;AAI48283;AAI66661;AAK15076;AAQ89176;BAF83598;BAH12837;EAW84438;EAW84439;EAW84440;NP_115960;Q9BY15 Hs.658712 1676176;1684892;1691054;1721593;1741585;1748473;1762071;1763319;1768479;1794814;5015861;7185938 D10S16;G59806;GDB:181546;PMC59887P1;RH40308;RH47140;RH47472;SHGC-145980;SHGC-147047;SHGC-32719;WI-18295 EGF-like module receptor 3;EGF-like module-containing mucin-like hormone receptor-like 3;egf-like module-containing mucin-like receptor 3 APPROVED protein-coding ENSG00000131355 23647 07309 606101 REVIEWED 1606914 EMR4P egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008] 19 19 19 p13.3 6893527 6932800 - 6903511 6941857 - 6952511 6990857 - 6480464 16753812;15203201;12731063;12679517;12565841;12477932;11181995 326342 Q86SQ3 ABBA01051478;ABBA01051479;AC025278;AF489700;AMYH01009379;AY181245;AY255550;CH471139;NR_024075 AAI52959;AAO27357;AAO85062;EAW69053;EAW69054 Hs.688043 EMR4;FIRE;GPR127;PGR16 APPROVED pseudo ENSG00000268758 19240 612305 PROVISIONAL 1342649 EMR1 egf-like module containing, mucin-like, hormone receptor-like 1 This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 19 19 19 p13.3 6829806 6881535 + 6838582 6891464 + 6887560 6940464 + 1580863;6480464 7601460;17823986;15489334;12477932;10903844;10501980;9500513;9383301;20625511;20424473;16344560;23459936 2015 A8K2Y6;A8K653;M0R2G7;Q6ZMN0 AB065918;ABBA01051477;ABBA01051478;AC020895;AC025278;AK131562;AK290401;AK291518;AK297003;AK297011;AK313495;AMYH01009379;BC059395;CH471139;CS173019;DA465986;DQ217942;NM_001256252;NM_001256253;NM_001256254;NM_001256255;NM_001974;X81479 AAH59395;ABB70739;BAC06133;BAD18695;BAF83090;BAF84207;BAG36277;BAH12472;BAH12475;CAA57232;CAJ33691;EAW69055;EAW69056;NP_001243181;NP_001243182;NP_001243183;NP_001243184;NP_001965;Q14246 Hs.2375 1775515;2133768;2134426;2179077 A004C29;G09953;SHGC-35395;STS-X81479 TM7LN3 EGF-like module receptor 1;EGF-like module-containing mucin-like hormone receptor-like 1;EMR1 hormone receptor;egf-like module containing, mucin-like, hormone receptor-like sequence 1 APPROVED protein-coding ENSG00000174837 3336 02733 600493 REVIEWED 1352483 EMX2OS EMX2 opposite strand/antisense RNA 10 10 10 q26.1 112973835 113034572 - 119233794 119294569 - 119243804 119304579 - 6480464 12573261;12477932 196047 ABBA01062940;AC005871;AK123533;AL137578;AMYH01003101;AY117034;AY117413;BC040186;NR_002791 Hs.312592 1773065;2148994;5014003;5020948;5022588;5037552;5118444 A004Q04;D11S3316;D17S1136;D5S1597E;D8S2279;G35510;RH11265 EMX2-AS1;FLJ41539;NCRNA00045 APPROVED miscrna 18511 607637 PROVISIONAL 1322367 EMX2 empty spiracles homeobox 2 This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009] 10 10 q26.1 119291946 119299043 + 119301956 119309057 + 1580863;6480464;7240710 15126568;12477932;15247416;18973570;18409201;17563403;17506092;15294144;14702039;12573261;12482956;12185771;11549315;11230166;8528262;7959790;1352754;20697358;22683750;20634891;20219685;20211142;23370654;21726823;21651764;23029345;21917011;22837378;23541324;23251661 2018 Q04743 ABBA01062940;AC005871;AF301598;AI701984;AK055041;AK311352;AL161811;AMYH01003101;BC010043;CH471066;NG_013009;NM_001165924;NM_004098;X68880 AAI52826;AAK95496;BAB70842;CAA48751;CAB82104;EAW49425;NP_001159396;NP_004089;Q04743 Hs.202095 1728989;1854914 Emx2;STS-AA025104 OTTHUMP00000020578;empty spiracles homolog 2;empty spiracles homolog 2 (drosophila);empty spiracles-like protein 2;homeobox protein EMX2 APPROVED protein-coding ENSG00000170370 3341 02495 269160;600035 REVIEWED 1345106 EMX1 empty spiracles homeobox 1 2 2 2 p13.2 72995445 73012863 + 72998112 73015528 + 73144604 73162020 + 1580863;6480464 16712791;15815621;15489334;14702039;12477932;10669604;8843394;7959790;7601155;1352754;20016109;20211142 2016 F8VXD0;F8W1B5;K4DI99;Q04741 ABBA01075574;AC012366;AK092368;AMYH01010435;BC037242;BC045762;BE501779;CB156771;CH471053;NM_004097;X68879 AAH37242;AAH45762;AAY14744;CAA48750;EAW99755;EAW99756;NP_004088;Q04741 Hs.516090 1757107;1789582;2108053 EMX1_8328;SHGC-144494;UniSTS:226151 OTTHUMP00000160200;empty spiracles homolog 1;empty spiracles homolog 1 (drosophila);empty spiracles-like protein 1;homeobox protein EMX1 protein-coding ENSG00000135638 3340 08963 600034 VALIDATED 1351603 EN1 engrailed homeobox 1 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008] 2 2 q14.2 119316217 119322229 - 119599747 119605759 - 1580863;5687197;5687199;6480464 19345444;17015829 2567700;8094370;8684466;19453261;19384295;19018235;19010793;18698228;16730693;16571670;15839736;15240857;12477932;11551904;11076863;11069920;9169834;7777574;1363401;21482524;19913121;20628086;20944657;21800291;21672318;22318606;18611861 2019 Q05925 ABBA01045936;ABBA01045937;AC012665;AMYH01010985;AMYH01010986;CH471103;L12698;L12699;NG_007123;NM_001426 AAA53502;AAI11841;AAX88967;EAW95205;EAW95206;NP_001417;Q05925 Hs.271977 1700810;1795770;2153816 D9S2047;EN1_604;RH104030 OTTHUMP00000162091;engrailed homolog 1;homeobox protein en-1;homeobox protein engrailed-1;hu-En-1 APPROVED protein-coding ENSG00000163064 3342 08835 131290 REVIEWED 1347375 ENDOGL2 endonuclease G-like 2 10231028 338025 AB020735 3348 1315614 ENAM enamelin Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009] 4 4 q13.3 71713325 71731400 + 71494461 71512536 + 1598908;1580863;6480464;7240710 11487571 19329462;18781068;18714142;18466877;18245370;17316551;17125728;15345747;14684688;14656895;12828988;12477932;12407086;11978766;11076863;11037750;10831092;7833920;22414746;19923784;21504268 10117 Q8NFB4;Q9NRM1 ABBA01022932;ABBA01022933;AC009570;AC134919;AF125373;AF210247;AF530444;AMYH01014280;AY167999;BC117308;BC117310;BC171756;CH471057;EU482096;NG_013024;NM_031889 AAF73847;AAG43242;AAI11842;AAI17309;AAI17311;AAM97323;AAN87336;ACA43029;EAX05625;NP_114095;Q9NRM1 Hs.667018 1298331;1338293;1646728;1646730;1696230;2107051;7185010 D4S392;D4S395;ENAM__7588;G16825;SHGC-50734;SHGC-83585 ADAI;AI1C;AIH2 OTTHUMP00000216417;amelogenesis imperfecta 2, hypocalcification (autosomal dominant);enamelin APPROVED protein-coding ENSG00000132464 3344 05960 104500;204650;606585 REVIEWED 1343015 EN2 engrailed homeobox 2 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008] 7 7 q36 154943585 154950287 + 155250824 155257526 + 1358567;1358620;1580863;5687199;6480464;7240710 15749247;15024396;17015829 1672471;19270442;18562208;18424904;17948901;17948868;17267560;16941662;16252243;16007149;15489334;15253423;12853948;12690205;12642491;12525552;12477932;11815869;10581478;10552924;10417292;10196369;9847074;9546821;9169834;7777574;2567700;2565873;1363401;19615670;20050924;20523082;21364037;22522212;22180456 2020 P19622 AACC02000068;ABBA01032395;AC008060;AMYH01018182;BC104970;BC104972;CH236954;CH471149;H16179;J03066;L12700;L12701;NG_007124;NM_001427 AAA53504;AAF68670;AAI04971;AAI04973;AAQ96875;EAL23909;EAX04535;NP_001418;P19622 Hs.134989 1298256;1298320;1299901;1299935;1335509;1337681;1339040;1339157;1339795;1339905;1698550;1779056;1786464;1797500;2132766;7183812;7184447;7185124;7186395;7187095 D7S1813;D7S1824;D7S2204;D7S2527;D7S2564;D7S3050;D7S480;D7S486;D7S495;D7S530;D7S640;D7S684;D7S820;D7S821;EN2;EN2_35.2;RH102827;SHGC-172649 OTTHUMP00000199895;engrailed homolog 2;engrailed-2;homeobox protein en-2;homeobox protein engrailed-2;hu-En-2 APPROVED protein-coding ENSG00000164778 3343 08836 131310;611016 REVIEWED 1602126 ENDOD1 endonuclease domain containing 1 11 11 11 q21 92110786 92153711 + 94462665 94505463 + 94822974 94865815 + 6480464 15489334;12477932;11921445;10048485;9110174;8619474;16344560;21906983;22190034 23052 O94919 AB020637;ABBA01040019;ABBA01040020;AF131747;AK026560;AK291673;AMYH01003965;AP000787;AP001264;BC026191;BC071171;CH471065;DA050413;NM_015036 AAH26191;AAH71171;BAA74853;BAF84362;EAW66957;NP_055851;O94919 Hs.167115 1340165;1340660;1661567;1661636;1661638;1701306;1731553;1737191 A005U34;D11S1261;D11S1788;D11S3060;D11S991;G20516;RH104282;RH11665 KIAA0830;MGC88092 OTTHUMP00000237026;endonuclease domain-containing 1 protein protein-coding ENSG00000149218 29129 VALIDATED 1316988 ENAH enabled homolog (Drosophila) 1 1 q42.12 223741157 223907468 - 225674534 225840845 - 1580863;6480464;6484113 19277120;19082477;19081071;18985426;18676769;18158903;17081983;16964243;16710414;16533770;16494957;16336193;15556561;15489334;15469846;15469845;15148305;15027125;14702039;14506234;12967995;12941633;12695497;12672821;12571287;12477932;11696321;10801818;10747096;10725224;9473484;9407065;9312002;1420303;14592989;10892742;16055720;17101133;17686488;19434313;19641378;20083228;20379614;9171351;21209853;21335464;21423205;22863883;18029348;21398369;21769917;21139048;21890473;19322201;21044950;22472896;22615875;23251661;21988832;23000965;23062752;23129656 55740 Q8N8S7 ABBA01009669;ABBA01009670;ABBA01009671;ABBA01009672;ABBA01009673;AC092811;AF519769;AK001635;AK025108;AK096246;AK126894;AK127561;AK290179;AL133059;AL356216;AL591380;AMYH01001772;AY345143;BC010414;BC037319;BC065238;BC095481;BQ672102;CB961874;CB991931;CH471098;EU255274;JA773083;NM_001008493;NM_018212 AAH65238;AAH95481;AAQ08487;AAR04685;ABY78022;BAA91799;BAC04736;BAC86739;BAC87036;BAF82868;CAB61384;CCG13846;EAW69747;NP_001008493;NP_060682;Q8N8S7 Hs.497893 1342153;1645315;1650367;1696176;1705464;1749631;1778552;2120672;2132811;2133319;2139455;2144748;2149867;2151919;5015404;5015961;5019985;5020635;5020946;5022576;5022588;5024413;5037552;7186488 A004U37;A008V35;AL009406;AW045240;D15S1477;D1S1361;D1S439;D5S1597E;D7S3207;D8S2279;G34817;HSC0FA082;L17705;L17877;L17971;RH16570;SHGC-111315;SHGC-76425;SHGC-76433;SHGC-76442;SHGC-76444;SHGC-79026;SHGC-83817 ENA;MENA;NDPP1 OTTHUMP00000035863;OTTHUMP00000035864;OTTHUMP00000216548;mammalian enabled;protein enabled homolog protein-coding 18271 12360 609061 VALIDATED 1352868 ENC1 ectodermal-neural cortex 1 (with BTB domain) This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 5 5 q13 73958990 73972273 - 73923231 73937249 - 1580863;6480464 9566959;18981988;17875699;16344560;15761153;15489334;15459180;14702039;12477932;11691783;10974570;10828068;10640818;9683534;9305847;19121354;21145461;19424503;15983046;17893145;21139048;21906983 8507 D6R9D7;O14682;Q53XS2 ABBA01061930;AC026405;AF005381;AF010314;AF059611;AK096578;AK295128;AK299624;AK312608;AMYH01015407;AU120246;AY049781;BC000418;BT007392;CH471084;DA032687;DA498140;DA785554;NM_001256574;NM_001256575;NM_001256576;NM_003633;NR_046318 AAC26109;AAC39532;AAC64498;AAH00418;AAL15438;AAP36056;ABM82771;ABM85959;ACE86544;ACE87225;BAG35496;BAG53327;BAG58153;BAG61552;EAW95740;NP_001243503;NP_001243504;NP_001243505;NP_003624;O14682 Hs.104925 1660572;1740029;2108055;2111414;2163123 D5S1939;D5S1949E;D5S2420;ENC1_8821;RH48110 CCL28;ENC-1;FLJ39259;FLJ57577;KLHL35;KLHL37;NRPB;PIG10;TP53I10 OTTHUMP00000128235;OTTHUMP00000222054;OTTHUMP00000222056;ectoderm-neural cortex protein 1;ectodermal-neural cortex (with BTB-like domain);ectodermal-neural cortex 1 (with BTB-like domain);kelch-like 35;kelch-like 37;kelch-like family member 37;kelch-like protein 37;nuclear matrix protein NRP/B;nuclear restricted protein, BTB domain-like (brain);p53-induced gene 10 protein;tumor protein p53 inducible protein 10 APPROVED protein-coding ENSG00000171617 3345 05529 605173 REVIEWED 1321856 ENDOG endonuclease G The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008] 9 9 q34.1 130620600 130624776 + 131580779 131584955 + 1580863;6480464;6907045 15204919;22160858;19272175;19199036;18754329;18705403;17347867;17107772;17046751;16133872;15489334;15182854;12477932;12444964;11452314;9324313;7789991;20211237;20843780;19781850;20877624;21080888;21206973;21906983;21987572;22011247;22505724 2021 E5KNL5;Q14249 ABBA01043904;AK130973;AL441992;AMYH01021752;BC004922;BC016351;CH471090;HQ205306;HQ205307;HQ205308;HQ205309;HQ205310;HQ205311;HQ205312;HQ205313;HQ205314;HQ205315;HQ205316;HQ205317;HQ205318;HQ205319;HQ205320;HQ205321;HQ205322;HQ205323;HQ205324;HQ205325;HQ205326;HQ205327;HQ205328;HQ205329;HQ205330;HQ205331;HQ205332;HQ205333;HQ205334;HQ205335;HQ205336;HQ205337;HQ205338;HQ205339;HQ205340;HQ205341;HQ205342;HQ205343;HQ205344;HQ205345;NM_004435;X79444 AAH04922;AAH16351;ADP90774;ADP90775;ADP90776;ADP90777;ADP90778;ADP90779;ADP90780;ADP90781;ADP90782;ADP90783;ADP90784;ADP90785;ADP90786;ADP90787;ADP90788;ADP90789;ADP90790;ADP90791;ADP90792;ADP90793;ADP90794;ADP90795;ADP90796;ADP90797;ADP90798;ADP90799;ADP90800;ADP90801;ADP90802;ADP90803;ADP90804;ADP90805;ADP90806;ADP90807;ADP90808;ADP90809;ADP90810;ADP90811;ADP90812;ADP90813;CAA55963;EAW87837;NP_004426;Q14249 Hs.224137 2108057;2125011 ENDOG_7788;RH78082 FLJ27463 OTTHUMP00000022301;endo G;endonuclease G, mitochondrial;mitochondrial endonuclease G APPROVED protein-coding ENSG00000167136 3346 02704 600440 REVIEWED 1604059 ENDOU endonuclease, polyU-specific This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010] 12 12 12 q13.1 46900985 46916824 - 46389795 46405617 - 48103517 48119355 - 6480464 1710108;2350438;6755403;18936097;16303743;15489334;12477932;15755742;16344560;20379614 8909 B7Z7N4;P21128 ABBA01031467;AC004241;AI039727;AK075446;AK295963;AK300169;AK302308;AK314688;AMYH01004427;AX772808;BC069698;BC069715;BC074763;BC111782;CH471111;DA838842;DA841959;DC381238;M32402;M36109;NM_001172439;NM_001172440;NM_006025 AAA36464;AAA36465;AAH69715;AAH74763;AAI11783;BAG37240;BAG52139;BAH12230;BAH13227;BAH13670;CAE06253;EAW57940;EAW57941;NP_001165910;NP_001165911;NP_006016;P21128 Hs.997 1724793;2118703;2157568;2159726 D12S1892;RH122603;STS-H03346;STS-M32402 MGC133268;P11;PP11;PRSS26 22 serine protease;26 serine protease;OTTHUMP00000241830;OTTHUMP00000241831;OTTHUMP00000241832;placental protein 11;poly(U)-specific endoribonuclease;protein endoU;uridylate-specific endoribonuclease APPROVED protein-coding ENSG00000111405 14369 12110 606720 REVIEWED 1351093 ENG endoglin This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] 9 9 q34.11 129617115 129656805 - 130577291 130617047 - 1580959;1580960;1580961;1580962;1580963;1580964;1580965;1601038;1580863;2313795;2313806;6480464;6484113;7240710 16733295;16542389;16202216;16179574;15976502;12775886;7894484;19395281;18985316 19419943;15712270;9636649;9071813;11382917;3262645;8294451;9872992;15702480;12015308;18974388;17068149;1537377;19004009;1692830;1326540;19508727;19412349;19352388;19299629;19270816;19268655;19253312;19250924;19211612;19205515;19165674;19141403;19135290;19080433;19074480;19039203;19008959;18971528;18949376;18922939;18855162;18815549;18810471;18805961;18798555;18775991;18771978;18758636;18702104;18676680;18673552;18669913;18607909;18519764;18498373;18494936;18462791;18440621;18366008;18353434;18330824;18316564;18312453;18276933;18223685;18175241;18156205;17964708;17956952;17852832;17786384;17682823;17673527;17608955;17594108;17579118;17572488;17564791;17540773;17496924;17482348;17426082;17388964;17311868;17290185;17224686;17210583;17166870;17088457;17081563;16907850;16870672;16840721;16785228;16776339;16752392;16751767;16705692;16601078;16552334;16525724;16470589;16429404;16344560;16177881;15966703;15926713;15880681;15821778;15809709;15806144;15718503;15712271;15687131;15633211;15631865;15522964;15521985;15517393;15319534;15274325;15272276;15148318;15084601;15067342;15024723;14996436;14991534;14669355;14528280;12920067;12820370;12819391;12778073;12568406;12477932;12447690;12365720;12228247;12009077;11987155;11986954;11793473;11692035;10982033;10625079;10548503;10545596;10348742;9845534;20594474;9554745;9366572;9245986;9157574;22204709;22266931;9023056;8655583;8404038;8370410;8194490;8125298;7722302;20694148;20414677;19913121;20628086;18330257;21146604;21042283;20214506;21062661;20199197;20670156;20656886;21070126;20955379;21208277;20712008;21867402;22347366;22498340;19088371;20981476;16982625;19115106;19116719;19170196;19350449;19544399;19578796;19625176;19661015;19670444;19692168;19736306;19788614;19889225;19890661;19912365;19919302;19939849;20067780;20082874;20098615;20134268;20223440;20233512;20346360;20430360;20878063;20301525;20412114;20619547;20856203;21737454;20948996;16646406;21170488;18476626;18029348;21344387;22608563;21158752;21245995;21444673;21778318;22246909;21914777;22271899;22116456;23074273;23000880;23110859;21655651;21886815;22022569;21546842;21967607;21668763;21949130;21966395;22133666;22192717;21962138;22020071;21827221;23274166;23399955;21793708;22395512;22453150;22264588;22322190;22677372;22939629;22940691;23244127;23475485;23110221;21921088;22869457;23264219;22941564;23261267;23279628;23300529;23321791;23341958;23376845;23397382;23437230;23471755;23548068;23576184;21667051;21939291;22789855;23147994;22768148;23163119;23088614;22385575;22593212 2022 F5GX88;P17813;Q5T9B9 ABBA01043846;ABBA01043847;ABBA01043848;ABBA01043849;ABBA01043850;AF035753;AK222669;AK223044;AK290389;AK300156;AK301171;AK302455;AL157935;AL162586;AMYH01021734;AMYH01021735;AMYH01021736;BC014271;BC020391;BC031967;BT006872;CH471090;DA943458;DB079257;DQ866809;J05481;NG_009551;NM_000118;NM_001114753;NM_001278138;U37439;X72012 AAA35800;AAC32802;AAC63386;AAH14271;AAP35518;ABI75346;ABM84599;ABM86753;BAD96764;BAF83078;BAG61940;BAG63750;BAH13421;CAA50891;EAW87702;EAW87703;EAW87704;NP_000109;NP_001108225;NP_001265067;P17813 Hs.76753 1666816;1676244;1677973;1744691;1744693;1744695;1744697;1744699;1744701;1744703;1744705;1744707;1744709;1753165;1795772;1847191;2152424;2154655;2156744 ENG_443;GDB:553289;GDB:553293;GDB:553296;GDB:553300;GDB:553303;GDB:553311;GDB:553315;GDB:553319;GDB:553324;GDB:553329;RH68386;RH70059;RH79931;RH80829;SHGC-110028;SHGC-30551;STS-AA035463;STS-J05481 CD105;END;FLJ41744;HHT1;ORW;ORW1 CD105 antigen;OTTHUMP00000022221;OTTHUMP00000022222;endoglin APPROVED protein-coding ENSG00000106991 3349 00565 131195;187300 REVIEWED 5132529 ENO1-AS1 ENO1 antisense RNA 1 1 1 p36.2 8047641 8048691 + 8938894 8939944 + 100505975 ABBA01035525;AL139415;AMYH01000230;NG_029470;NR_038351 Hs.429843 1700818 RH104034 APPROVED miscrna ENSG00000230679 40214 VALIDATED 1603224 ENO1B enolase alpha, lung-specific ENO1B is an isoform of the glycolytic enzyme enolase (2-phospho-D-glycerate hydrolase; EC 4.2.1.11). It is a member of the alpha family of enolases which show widespread tissue distribution and expression in the early stages of embryonic development.[supplied by OMIM] 6480464 7689884 26237 Q05524 X66610 CAA47179;Q05524 HLE1 protein-coding 06162 1602281 ENDOV endonuclease V 17 17 17 q25.3 75017048 75040070 + 76003562 76026476 + 78388967 78411886 + 14702039;12477932;16169070;8889548;17207965;20819778;12853604;23912718;21906983;21963094;23139746;22505724 284131 E5RFW0;E5RGZ9;E5RHX4;E5RII5;E5RJ92;H0YAY5;H0YBX8;H0YBZ5;I3L0L4;I3L1V3;I3L3S4;I3L485;I3L4M6;I3L4V7;Q8N8Q3 ABBA01015400;AC120024;AK092539;AK096344;AK096802;AK123689;AMYH01008696;BC037889;BC045824;BC059781;BC064545;BM714470;BU553848;BX647411;CH471099;DQ500957;NM_001164637;NM_001164638;NM_173627 AAH37889;AAH45824;AAH64545;ABF47100;ADQ32588;BAC03912;BAC04765;BAC85677;EAW89602;EAW89603;EAW89604;EAW89605;EAW89606;EAW89607;EAW89608;EAW89609;EAW89610;EAW89611;EAW89612;EAW89613;EAW89614;EAW89615;NP_001158109;NP_001158110;NP_775898;Q8N8Q3 Hs.728933 2180789;2183733;2183735 A002B14;G19882;RH35797 FLJ35220;MGC74455 OTTHUMP00000227085;OTTHUMP00000227086;OTTHUMP00000227089;OTTHUMP00000227169;endonuclease V;hypothetical protein LOC284131 APPROVED protein-coding ENSG00000173818 26640 08758 VALIDATED 3457132 ENO1P2 enolase 1, (alpha) pseudogene 2 15 15 69377210 69377863 + 92965364 92966017 + 100419098 ABBA01053091;AC090985;AMYH01006930;NG_022137 pseudo 37943 INFERRED 3457133 ENO1P3 enolase 1, (alpha) pseudogene 3 3 3 122987748 122988967 - 124580944 124582163 - 100419069 ABBA01016432;AC022336;AMYH01013439;NG_022217 pseudo 37944 INFERRED 1603336 ENHO energy homeostasis associated 9 9 9 p13.3 34452540 34454537 - 34511040 34513037 - 34521040 34523037 - 6480464 19041763;12975309;12477932;22872690;20837912;22318315 375704 Q6UWT2 ABBA01065011;AI554721;AL160270;AMYH01019337;AMYH01019338;AY358658;BC022101;BQ932712;BX111579;CH471071;NM_198573 AAH22101;AAQ89021;EAW58452;NP_940975;Q6UWT2 Hs.522085 1700924;1778938;2122772 A008S42;RH104089;SHGC-32160 C9orf165;UNQ470 GAAI470;OTTHUMP00000215883;adropin;energy homeostasis-associated protein protein-coding ENSG00000168913 24838 18263 VALIDATED 6769430 ENO1P4 enolase 1, (alpha) pseudogene 4 2 q33.1 202486369 202488153 - 100885799 ABBA01062545;AC007282;AMYH01011404;NG_032696 pseudo 37945 INFERRED 1601977 ENGASE endo-beta-N-acetylglucosaminidase This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] 17 17 17 q25.3 73669244 73682906 + 74582614 74596276 + 77071019 77084685 + 6480464 18586680;12905469;12477932;12114544;8269854;20413512;20026047;20668520;21890473;21873561 64772 F8W925;I3L3M8;J3QLG5;J9JID0;Q8NFI3 ABBA01002901;AC073624;AF512564;AK025518;AK301115;AL110283;AMYH01008679;AMYH01008680;BC024213;BC042158;CH471099;NM_001042573 AAH24213;AAI56538;AAM80487;BAB15158;BAG62712;CAH56405;EAW89559;EAW89560;EAW89561;EAW89562;NP_001036038;Q8NFI3 Hs.29288 1721931;2158962 G59998;RH45138 DKFZp434P174;FLJ21865 Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase;Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase;OTTHUMP00000236598;cytosolic endo-beta-N-acetylglucosaminidase APPROVED protein-coding 24622 10978 611898 VALIDATED 1353138 ENKD1 enkurin domain containing 1 16 16 16 q22.1 52205340 52209118 - 66254351 66258129 - 67696850 67700628 - 737633;6480464 12477932 11256614;16381901;16189514;15489336;15489334;12975309;11230166;11076863;19447967;20936779;21832049 84080 Q9H0I2;R4GN60;R4GNI1 ABBA01025451;AC010530;AL136786;AMYH01007751;AY358834;BC008284;CH471092;NM_032140 AAH08284;AAQ89193;CAB66720;CAL37957;EAW83156;NP_115516;Q9H0I2 Hs.729159 C16orf48;DAKV6410;DKFZP434A1319 OTTHUMP00000174855;enkurin domain-containing protein 1;hypothetical protein LOC84080;uncharacterized protein C16orf48 APPROVED protein-coding ENSG00000124074 25246 13151 PROVISIONAL 1351322 ENO4 enolase family member 4 10 10 10 q25.3 112338464 112371477 + 118598662 118632102 + 118609023 118642112 + 6480464 387712 A6NI74;A6NNW6;J3KNX1 ABBA01062952;AC023283;AMYH01003097;AMYH01003098;BX647301;NM_001242699 A6NNW6;NP_001229628 Hs.693248 1337209;1338320;1341938;1667181;1773788;2113080;2169744;7187488 D10S1657;D10S2449;D10S531;D10S545;RH78967;SHGC-37154;STS-R48273 AC023283.3;C10orf134;DKFZP781N1041 OTTHUMP00000020572;OTTHUMP00000204114;enolase family member 4;enolase-like protein ENO4 APPROVED protein-coding ENSG00000188316 31670 VALIDATED 1320397 ENKUR enkurin, TRPC channel interacting protein This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 10 10 10 p12.1 24971786 25006443 - 25310923 25345036 - 25270908 25351208 - 737633;6480464 12477932 17217053;15489334;15385169;15164054;14702039;21139048;21963094 219670 L7N489;Q5VV23;Q8TC29 ABBA01034435;ABBA01034436;ABBA01034437;AK095021;AK292495;AL512598;AMYH01002196;AY454125;BC026165;BM979174;CH471072;CR936720;DA285403;NM_001270383;NM_145010;NR_072992;NR_072993 AAH26165;AAS45168;ABM83002;ABM86195;BAC04477;BAF85184;EAW86115;EAW86116;EAW86117;EAW86118;NP_001257312;NP_659447;Q8TC29 Hs.534486 1780472 stbA742G14T7 C10orf63;DKFZp781F21103;MGC26778;enkurin OTTHUMP00000019325;OTTHUMP00000019326;OTTHUMP00000019328;enkurin APPROVED protein-coding ENSG00000151023 28388 12583 611025 REVIEWED 1351864 ENO1P1 enolase 1, (alpha) pseudogene 1 1 1 1 q43 209893472 209895277 + 234712905 234714907 + 236646398 236648205 + 1580863 12477932;8941374;2132962;20237496 2025 ABBA01033163;AL136105;AMYH01001858;NG_001115;NG_011566;X15277 2113648;2189903 99-13794;AB072753 ENO1P APPROVED pseudo 3352 INFERRED 6481216 ENOX1-AS1 ENOX1 antisense RNA 1 100874129 AL445703 APPROVED miscrna 42396 6481217 ENOX1-AS2 ENOX1 antisense RNA 2 100874130 AL138823 APPROVED miscrna 42397 1346972 ENOSF1 enolase superfamily member 1 This gene was originally identified as a naturally occurring antisense transcript to the human thymidylate synthase gene. Alternate splice variants have been described, one of which (named rTSalpha) represents an alternate 3'UTR that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and down-regulates TS expression. Other transcript variants (rTSbeta and rTSgamma) do not overlap the TS locus. The function of this gene appears to be primarily to regulate expression of the TS locus both via the antisense transcript as well as through the encoded proteins. [provided by RefSeq, Mar 2010] 18 18 p11.32 663914 702642 - 670324 712662 - 1580863;6480464 19190136;18635682;18427977;14702039;14508106;12477932;9381988;8889548;8764108;8493092;16162288;15342556;20485444;20565774;20458436;21963094 55556 B3KSL6;F5H1W8;J3QL81;J3QL99;J3QSB6;Q9HAS6;R4GNF8 ABBA01049817;ABBA01049818;AF305057;AK093873;AK127219;AK127818;AK292780;AK295850;AK309035;AMYH01008773;AP001178;AW001055;AW082251;BC001285;BF591232;BG679404;BM981714;BP265528;BP271162;BQ017246;BQ028926;BQ645002;BQ710874;BX648215;CH471113;NM_001126123;NM_017512;NM_202758;X67098;X89602 AAG29536;AAG29537;AAH01285;BAC87148;BAF85469;BAG52778;BAG54456;BAG58656;CAA47471;CAA47472;CAA61761;EAX01711;EAX01712;EAX01713;EAX01714;EAX01715;NP_001119595;NP_059982;NP_974487;Q7L5Y1 Hs.658550;Hs.731510;Hs.732707 1646236;1658975;1659267;1669735;1741603;1797014;1848893;1848895;1853432;1854638;2145493;2171780;2176206;2181169;5014019;5022322;5022651;5093898;5118718 A009Y30;D11S2560;D11S2921;D11S3590;D18S1240;D18S1296;D18S1308;D5S2354;G32989;GDB:181558;RH11010;RH12256;RH79165;SHGC-33721;SHGC-60027;STS-R71238;STS-T92929;STS-X67098;TYMS_1340 HSRTSBETA;RTS;TYMSAS OTTHUMP00000162191;OTTHUMP00000162192;antisense RNA to thymidylate synthase;mitochondrial enolase superfamily member 1;rTS alpha;rTS beta APPROVED protein-coding 30365 607427 VALIDATED 1605985 ENOX1 ecto-NOX disulfide-thiol exchanger 1 Electron transport pathways are generally associated with mitochondrial membranes, but non-mitochondrial pathways are also biologically significant. Plasma membrane electron transport pathways are involved in functions as diverse as cellular defense, intracellular redox homeostasis, and control of cell growth and survival. Members of the ecto-NOX family, such as CNOX, or ENOX1, are involved in plasma membrane transport pathways. These enzymes exhibit both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity in series, with each activity cycling every 22 to 26 minutes (Scarlett et al., 2005 [PubMed 15882838]).[supplied by OMIM, Mar 2008] 13 13 13 q14.11 24843864 25417275 - 42685704 43139655 - 43787661 44361116 - 6480464 19055324;16344560;16341674;16189514;16169070;15882838;14702039;12477932;11360993;20379614;22491018;18029348;22744667;21890473;23377640;23381943 55068 B7Z5K1;Q8TC92 ABBA01021240;ABBA01021241;ABBA01021242;ABBA01021243;ABBA01021244;ABBA01021245;ABBA01021246;ABBA01021247;AK000956;AK055477;AK299053;AL136959;AL138823;AL161714;AL162713;AL445703;AL607148;AL627430;AMYH01005077;AMYH01005078;AY513282;BC024178;BC068521;BM551661;BM834061;CH471075;DA512678;DA779748;DB058776;DB092904;EF432052;NM_001127615;NM_001242863;NM_017993 AAH24178;AAT08035;ABO28524;BAA91442;BAH12937;EAX08691;EAX08692;EAX08693;EAX08694;EAX08695;NP_001121087;NP_001229792;NP_060463;Q8TC92 Hs.128258 1337128;1661999;1705004;1706672;1715829;1720925;1726335;1726791;1749005;1753079;1756223;1763289;1779356;1782956;2111756;2158468;2175802;5123445 D13S1645;D13S623;D13S748;G17767;G59292;G62468;G62785;RH119611;SHGC-110645;SHGC-143093;SHGC-147014;SHGC-153353;SHGC-156250;SHGC-68335;SHGC-78011;SHGC-82832;UniSTS:80539;WI-4237 CNOX;FLJ10094;FLJ30915;PIG38;bA64J21.1;cCNOX OTTHUMP00000018332;candidate growth-related and time keeping constitutive hydroquinone (NADH) oxidase;candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase;cell proliferation-inducing gene 38 protein;constitutive Ecto-NOX;ecto-NOX disulfide-thiol exchanger 1;proliferation-inducing protein 38 APPROVED protein-coding ENSG00000120658 25474 07644 610914 VALIDATED 1603616 ENOPH1 enolase-phosphatase 1 4 4 4 q21.22 80643013 80673557 + 83570787 83601264 + 83351726 83382244 + 6480464;6907045 15843022;16344560;15489334;14702039;12477932;10931946;16169070;21900206;21963094 58478 D6RA00;Q9UHY7 ABBA01063435;ABBA01063436;AC067942;AC110787;AF087881;AF113125;AF177286;AK022656;AL110167;AMYH01014353;BC001317;BC065815;CH471057;CR457141;DA347866;NM_021204 AAF14866;AAH01317;AAH65815;AAP97181;AAQ13671;BAB14160;CAG33422;EAX05892;EAX05893;EAX05894;EAX05895;NP_067027;Q9UHY7 Hs.18442 1730121;1750249;1773818;2115651;5013979;5037324;5127275 D3S1341E;D3S1342E;D4S435E;SHGC-112490;SHGC-24654;SHGC-59489;SHGC-67407 DKFZp586M0524;E1;FLJ12594;MASA;MST145;mtnC 2,3-diketo-5-methylthio-1-phosphopentane phosphatase;MASA homolog;OTTHUMP00000160806;OTTHUMP00000219541;acireductone synthase;enolase-phosphatase E1 protein-coding ENSG00000145293 24599 17467 VALIDATED 732414 ENO3 enolase 3 (beta, muscle) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010] 17 17 pter-p11 4795131 4801148 + 4854384 4860426 + 1580863;1300048;2301765;6480464;6907045;7240710 8594891 8513787;19472918;16344560;15489334;15188056;12477932;2587223;2336366;1840492;18468620;21347838;8681137;20800603;18029348;21832049;22939629;21565611;21963094;21987572;23000965;21139048;21110914;21853274 2027 E5RG95;E5RGZ4;E5RI09;E5RJH5;K7EKN2;K7EP84;K7EPM1;P13929 ABBA01054784;AC004771;AC109333;AK300662;AK300673;AK300709;AK309864;AL359213;AMYH01008044;AU143784;BC017249;BJ995304;CH471108;DA082822;DA566866;F26358;NG_012063;NM_001193503;NM_001976;NM_053013;X16504;X51957;X55976;X56832 AAH17249;ABM83548;ABM86788;BAG62348;BAG62358;BAG62388;CAA34513;CAA36216;CAA39446;CAA40163;CAB94588;EAW90375;EAW90376;EAW90377;EAW90378;EAW90379;EAW90380;NP_001180432;NP_001967;NP_443739;P13929 Hs.224171 1736945;1741321;1742597;1855090;5119725 D17S1578;GDB:180430;GDB:180954;GDB:197917;RH16241 GSD13;MSE 2-phospho-D-glycerate hydro-lyase;2-phospho-D-glycerate hydrolyase;OTTHUMP00000125242;OTTHUMP00000227662;OTTHUMP00000227666;OTTHUMP00000227667;beta-enolase;enolase 3, beta;muscle specific enolase;muscle-specific enolase;skeletal muscle enolase APPROVED protein-coding ENSG00000108515 3354 11746 131370;612932 REVIEWED 733932 ENO2 enolase 2 (gamma, neuronal) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008] 12 12 p13 6893875 6903120 + 7023614 7032859 + 1580863;2293735;2293746;2293740;2293741;2293747;2293737;2302795;2293739;2293742;2302804;2293734;2293743;2293748;2293751;2293738;2293736;2293745;2293753;5508770;5508782;5508769;5508787;5509052;6480464;6907045 15010880;17537454;16608642;12656306;17532790;18156975;15720133;17345775;18511206;8255543;15239127;18343116;17083782;16044081;17951193;18459456;17683050;15780189;21130083;20847541;21293918;20105309;15464860 15289101;14702039;2045099;19540138;19405953;19221847;19221293;19204726;19074885;18783450;18609108;18460190;18063947;17436063;16978415;16411755;16236267;16169070;15951569;15592455;15489334;12636057;12581805;12477932;12353304;11985791;11983209;11935405;11919335;11881792;9074930;8264236;8035205;7682534;3974199;3653393;14631087;3385803;3208766;2792767;2249478;21368691;20495226;17618570;20873151;21149784;19220958;19307814;19445653;20348052;20381070;21165441;21775743;23208248;22893673;16335966;22088515;21553520;21587126;21163940;22863883;21924039;20686797;22256771;20537424;21815777;21846577;21868318;21963094;21987572;22932993;23000965;23212584;23380091;21139048;21358174;22360420;21994954;21110914;21044950;22300752;22551201;22582497;21824428;21976236;22437160;21145461;21319273;22674301;23406753;21877195;23074103;16027165;21853274;22505724;22797925;22452413 2026 B7Z2X9;F5GWQ3;F5H0C8;F5H1C3;F5H5U1;P09104;Q6FHV6 ABBA01017666;ABBA01017667;ABBA01017668;AK124656;AK290525;AK295220;AK312402;AMYH01004210;BC002745;BT007383;CH471116;CR536582;HC893847;M22349;M36768;NM_001975;U47924;X13120;X14327;X51956;Y00691 AAA52388;AAB51320;AAB59554;AAH02745;AAP36047;ABM84745;ABW03619;BAF83214;BAG35316;BAG54062;BAH12015;CAA31512;CAA32505;CAA36215;CAG38819;CBN61368;EAW88709;EAW88710;EAW88711;NP_001966;P09104 Hs.511915 1668496;1693756;1742901;1743985;1795774;2133406;2168225 D12S1899;ENO2_37;G10506;GDB:214837;GDB:384728;SHGC-58828;STS-U72508 NSE 2-phospho-D-glycerate hydro-lyase;2-phospho-D-glycerate hydrolyase;OTTHUMP00000239836;OTTHUMP00000239837;OTTHUMP00000239839;OTTHUMP00000239840;enolase 2, gamma;gamma-enolase;neural enolase;neuron specific gamma enolase;neuron-specific enolase;neurone-specific enolase APPROVED protein-coding ENSG00000111674 3353 00573 131360 REVIEWED 735808 ENO1 enolase 1, (alpha) This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011] 1 1 p36.2 8843650 8861367 - 8921059 8939151 - 1598909;1580863;1300048;2302799;2302802;6480464;6484113;6907045 16485256;18560153;2966075 3529090;11134351;2005901;10082554;19433310;19425054;19255486;19182206;18813785;18691435;18682748;18668562;18490439;18070418;18033204;17996313;17387692;17284257;16916647;16762917;16713569;16710414;16381901;16359544;16289162;16236267;15952740;15951569;15805119;15592455;15489336;15489334;15324934;15324660;14702039;12847697;12787059;12666133;12665801;12477932;12354300;12297304;11836316;11497239;11256614;11230166;11169399;11076863;10802057;10681589;9878089;9691177;9653645;7821789;14604964;16009940;20473970;21628590;22551201;22623332;9308760;9150948;9119380;9110174;9093905;8824716;8619474;8125298;7787969;2373081;2045099;1602151;14499622;20498720;20849415;19655245;20435467;2462567;20864512;19394292;20721957;16548883;16884686;19339807;19795461;19846662;20181627;21159241;20886042;10403782;11078745;17500595;21360494;22939629;23077236;23106098;16335966;17525734;22990118;18624398;19815544;20849852;21751384;22079093;15047060;16196087;19135240;20000738;15161933;21839816;22272336;21640210;17623298;18781797;20972266;21139048;21890473;21906983;21963094;21987572;21950004;22536838;21110914;16815975;21145461;21319273;22552009;19738201;19805454;21988832;22304920;22623428;22810585;23000965;23453885;14530346;16027165;21853274;22053931;22505724;22797925;22944692;22577163 2023 E2DRY6;K7EM90;K7ERS8;Q6GMP2 ABBA01035524;ABBA01035525;AF035286;AK098420;AK222517;AK223192;AK298600;AK309177;AK309291;AK315417;AL139415;AL833741;AMYH01000230;BC001810;BC004325;BC004458;BC009218;BC009912;BC011130;BC015641;BC021166;BC022545;BC027725;BC050642;BC113034;BT007163;BX537400;CH471130;D28437;DQ056744;EF036495;GU170215;HC893763;M14328;M55914;NG_029470;NM_001201483;NM_001428;X16287;X16288;X84907 AAA35698;AAA52387;AAB88178;AAH01810;AAH04325;AAH04458;AAH09218;AAH09912;AAH11130;AAH15641;AAH21166;AAH22545;AAH27725;AAH50642;AAI13035;AAP35827;AAY43128;ABM82367;ABM85545;ABO65081;ADK47995;BAA05803;BAD96237;BAD96912;BAG37806;BAH12823;CAA34360;CAA59331;CAD97642;CAH56247;CAL38482;CBN61326;EAW71604;EAW71605;NP_001188412;NP_001419;P06733 Hs.517145 1685351;1686728;1700818;1744635;2135465;2162577;2187558;2189903;5020871;5492011 99-13794;D10S2138;GDB:549140;RH104034;RH64843;RH93736;SHGC-57235;SHGC-74193;STS-X51804;ksks293 ENO1L1;MBP-1;MPB1;NNE;PPH 2-phospho-D-glycerate hydro-lyase;C-myc promoter-binding protein;MPB-1;MYC promoter-binding protein 1;OTTHUMP00000001706;alpha enolase like 1;alpha-enolase;alpha-enolase; c-myc promoter-binding protein-1;c-myc promoter-binding protein 1;c-myc promoter-binding protein-1;enolase 1, alpha;enolase-alpha;non-neural enolase;phosphopyruvate hydratase;plasminogen-binding protein;tau-crystallin APPROVED protein-coding ENSG00000074800 3350 01400 172430 REVIEWED 1344691 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. [provided by RefSeq, Jul 2008] 6 6 q22 132000135 132110243 + 131958442 132068550 + 1580863;6480464;6907045 10513816;9344668;17275019;16344560;15886225;15072822;15031605;14574404;14533006;11342463;10524196;19418203;20047266;20159259;20379614;20975283;18760862;21090681;22722613;20467438;23149075 5169 B0AZV2;E7ETI7;E9PDB4;F5GY67;F8W6H5;O14638;Q308M7 ABBA01025887;ABBA01025888;ABBA01025889;AC005587;AF119714;AK024899;AK226107;AK292903;AK296080;AK309080;AK310691;AK315893;AL121575;AL135904;AL355150;AMYH01016674;CH471051;DB230886;DB239180;DQ234347;EF560735;JA122378;NM_005021 AAD05192;AAD46160;AAI41435;AAI46580;ABB29976;ABQ59045;BAF85592;BAF98784;BAG58836;CAB99214;CCA64000;EAW48044;EAW48045;EAW48046;NP_005012;O14638 Hs.486489 1673528 GDB:1318364 B10;CD203c;NPP3;PD-IBETA;PDNP3 E-NPP 3;OTTHUMP00000017901;dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3);dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3);ectonucleotide pyrophosphatase/phosphodiesterase family member 3;gp130RB13-6;phosphodiesterase I beta;phosphodiesterase I/nucleotide pyrophosphatase 3;phosphodiesterase-I beta APPROVED protein-coding ENSG00000154269 3358 03715 602182 REVIEWED 1345108 ENOX2 ecto-NOX disulfide-thiol exchanger 2 This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] X X q25 129585036 129864889 - 129757355 130037208 - 1580863;6480464 19734125;11941450;1888291;9932650;12356293;18029348;8150545;11488599;18789934;18351130;18023414;16189514;15772651;15706060;15489334;14702039;12477932;11888291;11825610;11437345;11412089;10354495;9046026;20345278;20922471;21571040;16344560;21988832;23667531;21625959;22659163 10495 B1AKF7;Q16206 ABBA01047946;ABBA01047947;ABBA01047948;ABBA01047949;ABBA01047950;ABBA01047951;ABBA01047952;ABBA01047953;ABBA01047954;ABBA01047955;ABBA01047956;ABBA01047957;ABBA01047958;ABBA01047959;ABBA01047960;ABBA01047961;ABBA01047962;ABBA01047963;ABBA01047964;ABBA01047965;ABBA01047966;ABBA01047967;ABBA01047968;ABBA01047969;ABBA01047970;ABBA01047971;ABBA01047972;AF207881;AI540639;AK000353;AK289812;AK289837;AL022153;AL049565;AL049733;AL133207;AL591908;AMYH01022976;AMYH01022977;BC019254;BC108713;BC139781;BC140874;BU160341;CH471107;CS461240;DB128861;NG_012562;NM_001281736;NM_006375;NM_182314;S72904;Z80232 AAB30428;AAF20934;AAH19254;AAI08714;AAI39782;AAI40875;BAF82501;BAF82526;CAB61581;CAM12255;EAX11796;EAX11797;NP_001268665;NP_006366;NP_872114;Q16206 Hs.171458 1645738;1650746;1661900;1662542;1674392;1691564;1691616;1691642;1724899;1770607;1777333;1778923;1855199;2115195;2116563;2120042;2134403;2136899;2140935;2143669;2155021;2155945;2156090;2156885;2161136;2165433;2173449;5093818 A009X18;AFM289vf9;AFM319YH5;AL008918;AL023931;AL032587;AL032598;AL032617;D11S982;DXS6756;DXS7139;DXS7406;DXS7648;DXS7676;DXS8261;DXS8305;G18234;G32942;L77627;L77640;L77651;L78004;L78005;L78119;RH119214;RH16270;RH65046;SHGC-34380 APK1;COVA1;tNOX APK1 antigen;OTTHUMP00000024021;OTTHUMP00000024022;cytosolic ovarian carcinoma antigen 1;ecto-NOX disulfide-thiol exchanger 2;tumor-associated hydroquinone oxidase APPROVED protein-coding ENSG00000165675 2259 02234 300282 REVIEWED 1318608 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 6 6 6 p21.1 47650241 47666973 + 46205871 46222237 + 46097701 46114436 + 6480464 16344560;12477932;11027689;10048485;22995898 22875 Q9Y6X5 AB020686;ABBA01050622;AJ420515;AK291276;AL035701;AMYH01016326;BC018054;BI548305;CA433087;CH471081;CS265750;DA261977;NM_014936 AAH18054;ABM83258;ABM86463;BAA74902;BAF83965;CAJ78397;EAX04292;NP_055751;Q9Y6X5 Hs.643497 1683443;1691182;2161948;2170565 RH68105;RH91244;RH93605;STS-AA037785 KIAA0879;NPP4 AP3A hydrolase;AP3Aase;E-NPP 4;NPP-4;OTTHUMP00000016541;bis(5'-adenosyl)-triphosphatase ENPP4;ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function);ectonucleotide pyrophosphatase/phosphodiesterase family member 4 APPROVED protein-coding ENSG00000001561 3359 16862 VALIDATED 732266 ENPEP glutamyl aminopeptidase (aminopeptidase A) 4 4 q25 111616678 111703942 + 111397229 111484493 + 1581742;1580863;6480464;6907045 15638741 8244382;14998491;8346219;18029348;19187443;18550936;18410507;18206321;18188697;17999179;17990103;17850355;17603472;16344560;16335952;15489334;15048132;12614948;12477932;11390025;9268642;9062131;8804068;2364374;1756856;18677709;19373777;20332099;20379614;21572416;19608358;21697726;21886157 2028 H0YA67;Q07075 ABBA01063799;AC017068;AC098798;AI640493;AK313412;AL568777;AM888273;AM888274;AM888275;AM888276;AM888277;AM888278;AM888279;AM888280;AM888281;AM888282;AM888283;AMYH01014461;BC094770;BG400415;BX641012;CH471057;DB070526;L12468;L14721;NM_001977 AAA16876;AAA35522;AAH94770;BAG36206;CAP09197;CAP09198;CAP09199;CAP09200;CAP09201;CAP09202;CAP09203;CAP09204;CAP09205;CAP09206;CAP09207;EAX06261;NP_001968;Q07075 Hs.435765 1660525;1716941;1721293;2217308 ENPEP_3974;G59643;RH121850;SHGC-59530 APA;CD249;gp160 AP-A;EAP;OTTHUMP00000163369;differentiation antigen gp160;glutamyl aminopeptidase protein-coding 3355 08848 138297 VALIDATED 1349921 ENSAP1 endosulfine alpha pseudogene 1 20 20 20 p12.1 15675140 15675665 - 15548024 15548564 - 15600083 15600608 - 170511 ABBA01054002;AL050324;AMYH01011731;NG_001035 ENSAP;dJ822J19.1 APPROVED pseudo 16588 INFERRED 1348920 ENSAP2 endosulfine alpha pseudogene 2 14 14 14 q31.1 63201541 63202232 - 82228704 82229377 - 83158851 83159542 - 319114 ABBA01030595;AL163171;AMYH01005911;NG_002495 1783046 SHGC-145179 pseudo 20011 INFERRED 1351327 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008] 6 6 q22-q23 132170853 132254043 + 132129156 132216295 + 1625124;1601044;1601043;1601042;1601041;1580863;6480464;6907045;6906927;6906928;6906933;6906926;6906934;6906931;6906932;6906930;7240710 17347799;15940697;10480624;16025115;10453738;18184924;12147787;21282363;19506043;21602183;20137772;20016754;20137773 7830796;10513816;11159191;8001561;11289049;17849011;12746903;1315502;19420105;19403348;19399648;19368707;19206175;19107338;19086938;19056482;19046915;19017751;18950909;18948963;18940878;18823720;18776139;18719658;18690303;18664022;18657335;18583883;18551113;18498634;18464750;18426862;18389334;18222177;18176722;18071025;17986276;17848394;17719609;17704904;17606264;17563456;17493546;17491709;17367703;17287921;17228024;17192490;17143316;17129580;17065359;17065358;17043047;17026496;16968801;16941279;16936213;16865358;16609882;16607460;16527214;16278247;16272817;16231022;16207325;16186408;15834329;15802034;15793263;15677494;15489334;15374726;15126519;15072822;15045693;15001634;14671192;14574404;14514598;12881724;12740448;12715715;12547881;12483464;12477932;12441313;12147786;12126783;11916943;11771660;11739459;11473061;10615944;10524196;9553761;9344668;8040311;7737162;2211644;21198320;22231969;23451554;19913121;20628086;20709678;19083193;19374858;19453261;19577557;19578796;19643578;19656007;19679831;19692168;19876004;19888898;19931660;20091022;20092902;20176643;20186155;20200332;20231843;20428609;20446819;20503258;20562859;22366713;20958205;20981035;21076580;20820885;18760862;21090681;21153685;21195542;21565692;21573217;21738662;21810932;22209248;20467438;21647535;21452007;20015201;22136912;22899099;23251661;23422753;22842219;22846899;23012391;21162834;22268729;22327785;22826605;23122642 5167 E9PE72;P22413 AB032016;ABBA01025886;ABBA01025887;AF067177;AF067178;AF110280;AF110281;AF110283;AF110284;AF110285;AF110286;AF110287;AF110288;AF110289;AF110290;AF110291;AF110292;AF110293;AF110294;AF110295;AF110296;AF110297;AF110298;AF110299;AF110300;AF110301;AF110302;AF110303;AF110304;AJ242020;AK314870;AL117378;AL139805;AMYH01016675;AMYH01016676;BC033008;BC059375;BX537580;CH471051;D12485;M57736;NG_008206;NM_006208 AAA63237;AAD38420;AAD38421;AAF36094;AAH59375;BAA02054;BAA97562;BAG37385;CAC39442;CAD97789;EAW48041;EAW48042;NP_006199;P22413 Hs.527295 1342087;1645998;1665309;1680228;1685257;1721399;1727927;1767105;1800678;1800828;1801514;1802208;1802510;1803154;1804156;1805198;1807246;1808688;1811170;1812128;1812198;1813352;1813910;1814652;1816416;1816794;1818704;1821886;1824052;1824842;1825550;1825938;1826018;1828096;1830460;1830962;1834952;1837726;1837780;1839430;1839618;1840180;1842152;1844058;1845622;1846408;1855466;1916358;1916360;1916362;1916364;1916366;1916368;1916370;1916372;1916374;1916376;1916378;1916380;1916382;1916384;1916386;1916388;1916390;1916392;1916394;1916396;1916398;1916400;1916402;1916404;1916406;1916408;1916410;1916412;1916414;1916416;1916418;1916420;1916422;1916424;1916426;1916428;1916430;1916432;1916434;1916436;1916438;1916440;1916442;1916444;1916446;1916448;1916450;1916452;1916454;1916456;1916458;1916460;1916462;1916464;1916466;1916468;1916470;1916472;1916474;1916476;1916478;1916480;1916482;1916484;1916486;1916488;1916490;1916492;1916494;1916496;1916498;1916500;1916502;1916504;1916506;1916508;1916510;1916512;1916514;1916516;1916518;1916520;1916522;1916524;1916526;1916528;1916530;1916532;1916534;1916536;1916538;1916540;1916542;1916544;1916546;1916548;1916550;1916552;1916554;1916556;1916558;1916560;1916562;1916564;1916566;1916568;1916570;1916572;1916574;1916576;1916578;1916580;1916582;1916584;1916586;1916588;1916590;1916592;1916594;1916596;1916598;1916600;1916602;1916604;1916606;1916608;1916610;1916612;1916614;1916616;1916618;1916620;1916622;1916624;1916626;1916628;1916630;1916632;1916634;1916636;1916638;1916640;1916642;1916644;1916646;1916648;1916650;1916652;1916654;1916656;1916658;1916660;1916662;1916664;1916666;1916668;1916670;1916672;1916674;1916676;1916678;1916680;1916682;1916684;1916686;1916688;1916690;1916692;1916694;1916696;1916698;1916700;2115507;2122672;2140121;2147109;2168054;2206110;2206112;2206114;2206116;2206118;2206120;2206122;2206124;2206126;2206128;2206130;2206132;2206134;2206136;2206138;2206140;2206142;2206144;2206146;2206148;2206150;2206152;2206154;2206156;2206158;2206160;2206162;2206164;2206166;2206168;5016478 D6S1656;ECD01200;ECD01277;ECD01634;ECD01987;ECD02141;ECD02468;ECD02998;ECD03542;ECD04591;ECD05326;ECD06583;ECD07069;ECD07105;ECD07697;ECD07982;ECD08356;ECD09250;ECD09443;ECD10416;ECD12029;ECD13122;ECD13520;ECD13883;ECD14078;ECD14118;ECD15171;ECD16364;ECD16617;ECD18627;ECD20031;ECD20060;ECD20897;ECD20992;ECD21274;ECD22279;ECD23242;ECD24029;ECD24424;G59701;G63382;GDB:434012;REN28992;REN28993;REN28994;REN28995;REN28996;REN28997;REN28998;REN28999;REN29000;REN29001;REN29002;REN29003;REN29004;REN29005;REN29006;REN29007;REN29008;REN29009;REN29010;REN29011;REN29012;REN29013;REN29014;REN29015;REN29016;REN29017;REN29018;REN29019;REN29020;REN29021;REN29022;REN29023;REN29024;REN29025;REN29026;REN29027;REN29028;REN29029;REN29030;REN29031;REN29032;REN29033;REN29034;REN29035;REN29036;REN29037;REN29038;REN29039;REN29040;REN29041;REN29042;REN29043;REN29044;REN29045;REN29046;REN29047;REN29048;REN29049;REN29050;REN29051;REN29052;REN29053;REN29054;REN29055;REN29056;REN29057;REN29058;REN29059;REN29060;REN29061;REN29062;REN29063;REN29064;REN29065;REN29066;REN29067;REN29068;REN29069;REN29070;REN29071;REN29072;REN29073;REN29074;REN29075;REN29076;REN29077;REN29078;REN29079;REN29080;REN29081;REN29082;REN29083;REN29084;REN29085;REN29086;REN29087;REN29088;REN29089;REN29090;REN29091;REN29092;REN29093;REN29094;REN29095;REN29096;REN29097;REN29098;REN29099;REN29100;REN29101;REN29102;REN29103;REN29104;REN29105;REN29106;REN29107;REN29108;REN29109;REN29110;REN29111;REN29112;REN29113;REN29114;REN29115;REN29116;REN29117;REN29118;REN29119;REN29120;REN29121;REN29122;REN29123;REN29124;REN29125;REN29126;REN29127;REN29128;REN29129;REN29130;REN29131;REN29132;REN29133;REN29134;REN29135;REN29136;REN29137;REN29138;REN29139;REN29140;REN29141;REN29142;REN29143;REN29144;REN29145;REN29146;REN29147;REN29148;REN29149;REN29150;REN29151;REN29152;REN29153;REN29154;REN29155;REN29156;REN29157;REN29158;REN29159;REN29160;REN29161;REN29162;REN29163;RH46619;RH46667;RH46732;RH70145;RH93800;RH98486;SHGC-12805;SHGC-57709;STS-D12485;WI-17341;WI-18102;stSG626306;stSG626307;stSG626309;stSG626310;stSG626311;stSG626312;stSG626313;stSG626314;stSG626315;stSG626316;stSG626317;stSG626318;stSG626319;stSG626320;stSG626321;stSG626322;stSG626323;stSG626324;stSG626325;stSG626326;stSG626327;stSG626329;stSG626330;stSG626331;stSG626332;stSG626333;stSG626334;stSG626335;stSG626336;stSG626337 ARHR2;M6S1;NPP1;NPPS;PC-1;PCA1;PDNP1 E-NPP 1;Ly-41 antigen;OTTHUMP00000017212;alkaline phosphodiesterase 1;ectonucleotide pyrophosphatase/phosphodiesterase family member 1;membrane component chromosome 6 surface marker 1;membrane component, chromosome 6, surface marker 1;phosphodiesterase I/nucleotide pyrophosphatase 1;plasma-cell membrane glycoprotein 1;plasma-cell membrane glycoprotein PC-1 2289234;2289252;2289470;2314822;2314975;2314979;2314983;2314990;2314992;2314997;2315001 BW141_H;BW142_H;BW513_H;BW514_H;GLUCO126_H;GLUCO128_H;INSUL30_H;INSUL37_H;INSUL39_H;SLEP15_H;SLEP22_H APPROVED protein-coding ENSG00000197594 3356 01415 125853;173335;208000;601665;602475;613312 REVIEWED 3516430 ENSAP3 endosulfine alpha pseudogene 3 2 2 2 q35 209330561 209330992 + 215202396 215271033 + 215562321 215562752 + 20379614 100128203 ABBA01062782;AC016708;AC068051;AMYH01011482;NG_023446 1712651;1755025;1850490 D2S2779;RH121990;SHGC-141968 pseudo 37946 VALIDATED 1349666 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 6 6 6 p21.1-p11.2 47680299 47691261 - 46235721 46246676 - 46127762 46138717 - 1580863;6480464 15489334;12975309;12477932;11027689;17207965 59084 Q9UJA9 ABBA01050622;AK292842;AK295192;AK312790;AL035701;AMYH01016326;AY358514;BC027615;BX647968;CH471081;NM_021572 AAH27615;AAQ88878;ADQ31781;BAF85531;BAG58194;EAX04293;NP_067547;Q9UJA9 Hs.35198 2107053 ENPP5__7592 KIAA0879 E-NPP 5;NPP-5;OTTHUMP00000016542;OTTHUMP00000016543;ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative function);ectonucleotide pyrophosphatase/phosphodiesterase family member 5 APPROVED protein-coding ENSG00000112796 13717 13272 VALIDATED 734409 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008] 8 8 q24.1 120638500 120720287 - 120569317 120651106 - 1580863;6480464 7982964;8579579;8586446;21419756;1733949;19477432;19297419;19222837;19212832;19027716;18497954;18337445;18327261;18249559;18175805;18054784;17902023;17804602;17577119;17013094;16782887;16627485;16529861;16436050;16356477;16344560;16117781;15985467;15933052;15897878;15769751;15700135;15489334;15027116;12727817;12633853;12498389;12482591;12477932;12176993;12119361;11559573;10737800;8995394;8889548;8798697;7496154;20197381;20888793;16837466;19204739;19204929;19506801;19521548;19522250;19549252;19614625;20231358;20379614;20356387;20495010;22700442;22744859;21505238;21246658;23150666;21439952;23377000;22155714;22952646;22820036;22922883;21719699;21696367;22314276;12107410;22975311;20623382;21971049;21765444;22002750;22140473;21998595;21994952;22474126;20467438;22644624;21777571;22797925 5168 E5RIA2;E5RIB9;E5RJ49;E7EUF1;Q9UCR1 AA256687;ABBA01037817;AC099818;AC107960;AI339551;AI375195;AK124910;AK130313;AK296027;AK315253;AL544867;AMYH01018986;BC034961;BM694754;BQ365938;BU731264;CA390514;CH471060;D45421;D45914;DA919550;DA922156;DB468753;DC338843;EU131011;JA738789;JA738791;JA738793;L35594;L46720;NG_029498;NM_001040092;NM_001130863;NM_006209;NR_045555 AAA64785;AAB00855;AAH34961;ABM82554;ABM85745;ABW38316;BAA08260;BAA08342;BAG58795;CCF77047;CCF77048;CCF77049;EAW91986;EAW91987;EAW91988;EAW91989;EAW91990;NP_001035181;NP_001124335;NP_006200;Q13822 Hs.190977 1338723;1678089;1739779;1749725;1750059;1755227;2122367;2131125;2148808;2183105;2187048;5093114;7184024 A009G17;D8S1677E;D8S269;G32527;RH41114;RH69056;SHGC-111401;SHGC-112215;SHGC-12938;SHGC-142128;STS-R51085;WI-21702 ATX;ATX-X;AUTOTAXIN;FLJ26803;LysoPLD;NPP2;PD-IALPHA;PDNP2 E-NPP 2;OTTHUMP00000228158;OTTHUMP00000228159;OTTHUMP00000228161;OTTHUMP00000228162;autotaxin-t;ectonucleotide pyrophosphatase/phosphodiesterase family member 2;extracellular lysophospholipase D;phosphodiesterase I/nucleotide pyrophosphatase 2;plasma lysophospholipase D APPROVED protein-coding ENSG00000136960 3357 03037 601060 REVIEWED 1342953 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 17 17 17 q25.3 74329818 74341104 + 75319477 75330616 + 77704882 77716021 + 6480464;6907045 15016655;12671034;12885774;16255717;15708357;15489334;15458386;15340161;14702039;12975309;12477932;20839774;19850743;22177013 339221 I3L3G5;Q6UWV6 ABBA01013832;AC105337;AC233701;AK126250;AK128662;AMYH01008682;AY230663;AY358622;BC041453;CH471099;NM_178543 AAH41453;AAP69661;AAQ88985;BAC86504;EAW89566;NP_848638;Q6UWV6 Hs.114084 1701334;1780012 RH104297;SHGC-154261 ALK-SMase;MGC50179 E-NPP 7;NPP-7;alkaline sphingomyelin phosphodiesterase;alkaline sphingomyelinase;ectonucleotide pyrophosphatase/phosphodiesterase family member 7;intestinal alkaline sphingomyelinase protein-coding ENSG00000182156 23764 VALIDATED 1323210 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 4 4 4 q35.1 182338726 182467954 - 185246853 185376013 - 185009859 185139114 - 6480464 15788404;15489334;14702039;12975309;12477932 133121 D6R9P1;Q6UWR7 ABBA01070512;AC079080;AC107222;AK021943;AK057370;AMYH01014766;AY358676;BC035035;CH471056;NM_153343 AAH35035;AAQ89039;AAY40908;BAB71455;EAX04683;NP_699174;Q6UWR7 Hs.297814 1340962;1643945;1652863;1708360;1752633;1756845;1778336;2121361;2125623;2147539 D4S1179;D4S1221;D4S2954;D4S977;G34071;G41971;SHGC-106445;SHGC-144005;SHGC-50702;SHGC-81154 MGC33971;NPP6 B830047L21Rik;E-NPP 6;GPC-Cpde;NPP-6;OTTHUMP00000218588;choline-specific glycerophosphodiester phosphodiesterase;ectonucleotide pyrophosphatase/phosphodiesterase family member 6;glycerophosphocholine cholinephosphodiesterase protein-coding ENSG00000164303 23409 16863 VALIDATED 1602180 ENTHD1 ENTH domain containing 1 22 22 22 q13.1 23941109 24091859 - 38468995 38619740 - 40139049 40289794 - 15461802;14702039;12477932;20237496;22318606 150350 Q8IYW4 ABBA01055585;AK058150;AK093154;AL022319;AL022353;AMYH01012783;AMYH01012784;BC033895;CH471095;CR456452;NM_152512;Z82206 AAH33895;ADZ15746;BAB71688;BAC04075;CAG30338;EAW60352;EAW60353;EAW60354;NP_689725;Q8IYW4 Hs.474869 1649101;1678905;1745461;1793108;2118972 D22S575;G13234;GDB:607737;PMC196577P2;RH39082 CACNA1I;FLJ25421;dJ370M22.3 ENTH domain-containing protein 1;OTTHUMP00000199129;dJ370M22.3 (EPSIN 2B);epsin-2B protein-coding ENSG00000176177 26352 08063 PROVISIONAL 1601823 ENTHD2 ENTH domain containing 2 17 17 17 q25.3 75832623 75843435 - 76816674 76827450 - 79202077 79212891 - 6480464 14702039;12477932;9710619;16344560;21832049 146705 I3L3N1;I3L3R3;I3L4J0;I3L4S7;Q96N21 ABBA01032133;AC027601;AK056090;AK127221;AK128728;AMYH01008707;BC037231;BC042155;BC064483;CH471099;DB122720;NM_144679 AAH64483;BAB71091;BAC86888;BAC87593;EAW89634;EAW89635;EAW89636;EAW89637;EAW89638;NP_653280;Q96N21 Hs.631761 C17orf56;DKFZp451M1616;FLJ31528 AP-4 complex accessory subunit tepsin;ENTH domain-containing protein 2;epsin for AP-4;hypothetical protein LOC146705;tetra-epsin;uncharacterized protein C17orf56 APPROVED protein-coding ENSG00000167302 26458 08103 VALIDATED 1346927 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 ENTPD3 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD3 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jul 2008] 3 3 p21.3 40403694 40445114 + 40428673 40470110 + 1580863;6480464;6907045 19120451;17727821;15966724;12477932;11300774;10231536;9676430;9675246;9271669;19743837;20190036 956 C9J0J3;G5E9N0;O75355 ABBA01024791;ABBA01024792;ABBA01024793;AC104186;AF034840;AF039917;AK313322;AMYH01013101;BC029869;BX952692;CH471055;NM_001248 AAC09236;AAC39884;AAH29869;BAG36127;EAW64600;EAW64601;NP_001239;O75355 Hs.441145 1854564;2217310 ENTPD3_90.2;G30552 CD39L3;FLJ93839;HB6;NTPDase-3 CD39 antigen-like 3;CD39-like 3;NTPDase 3;OTTHUMP00000162079;OTTHUMP00000209227;OTTHUMP00000209228;ecto-ATP diphosphohydrolase 3;ecto-ATPDase 3;ecto-ATPase 3;ecto-apyrase 3;ectonucleoside triphosphate diphosphohydrolase 3 APPROVED protein-coding ENSG00000168032 3365 16014 603161 VALIDATED 7241751 ENTPD1-AS1 ENTPD1 antisense RNA 1 12477932;14702039;16344560 728558 ABBA01021832;ABBA01021833;ABBA01021834;AK091396;AK096469;AL356155;AL365273;AL513355;AMYH01002968;AMYH01002969;AMYH01002970;BC028619;BU852745;DA419635;NR_038444 Hs.538374 1748575;1778534;1778754;5015435 G33523;RH66368;SHGC-110239;T16093 miscrna ENSG00000226688 45203 VALIDATED 733329 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 10 10 q24 97461526 97627013 + 97471536 97637023 + 728666;735004;1580863;1300048;6480464;6907045 9221928;10470077 20638239;8955160;7930580;19450601;19095759;18979366;18812468;18713747;18600538;18485080;18404504;17727821;17560607;17449799;17374358;16920697;16478441;16028070;16011960;15890655;15772061;15590415;15496502;15146241;14702039;12832497;12623446;12482826;12477932;12234494;12067895;11897808;11004484;10997340;10737800;10636909;10471369;10405171;9846014;9226376;8996251;8626624;8529670;22802412;20498355;22613024;20487644;16385451;19877008;19914228;20190036;20379614;20977632;22684996;22846899;22792409;20936356;21492831;22637533;21638125;21663645;21670316;21677139;21763644;21939667;22349724;22489829;22184407;22622462;23359087 953 Q86VV3 ABBA01021833;ABBA01021834;AJ133133;AJ133134;AK098240;AK098278;AK298648;AK301459;AK304018;AK304836;AK316009;AL356632;AL365273;AL547722;AL833543;AMYH01002968;BC047664;BF839210;BX537522;CD652289;CH471066;DC423382;NM_001098175;NM_001164178;NM_001164179;NM_001164181;NM_001164182;NM_001164183;NM_001776;S73813;U87967 AAB32152;AAB47572;AAH47664;BAG62981;BAG64933;BAG65580;BAH12835;BAH14380;CAB41886;CAB41887;EAW49987;EAW49988;EAW49989;EAW49990;EAW49991;NP_001091645;NP_001157650;NP_001157651;NP_001157653;NP_001157654;NP_001157655;NP_001767;P49961 Hs.576612 1698910;1698960;1699144;1733516;1775127;2118693;2144669;2151698;2152289;2171834;2174572;2186132;5109549 A004O25;D10S1191;D21S1698;G29221;L18004;RH103024;RH103049;RH103148;RH66515;RH67840;STS-AA022645;STS-S73813;WI-15712 ATPDase;CD39;DKFZp686D194;DKFZp686I093;FLJ40921;FLJ40959;NTPDase-1 CD39 antigen;NTPDase 1;OTTHUMP00000020161;OTTHUMP00000020163;ecto-ATP diphosphohydrolase 1;ecto-ATPDase 1;ecto-ATPase 1;ecto-apyrase;ectonucleoside triphosphate diphosphohydrolase 1;lymphoid cell activation antigen protein-coding ENSG00000138185 3363 09047 601752 VALIDATED 736594 ENSA endosulfine alpha The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 q21.3 148861223 148868722 - 150594599 150602098 - 1580863;2303423;6480464 16344894 9653196;17081983;15489334;15030171;14728987;14728986;14702039;12937617;12477932;11771735;11042152;10480622;8889548;16169070;17353931;20471941;16341674;17893145;18973346;21163940;18624398;21139048;21890473;21044950 2029 A6NMQ3;C9JUF4;Q5T5H1;Q6VUC6 ABBA01049351;AF067170;AF157509;AF157510;AJ010966;AK001981;AK057673;AK290064;AL356356;AL711949;AMYH01001381;AW136940;AW409955;AY326399;AY326400;AY326401;AY326402;AY326403;BC000436;BC004461;BC068544;BC069208;BE799496;BM771663;BM984677;BM993811;BQ005654;BQ883543;BU075511;BU858280;CB243574;CH471121;CR457130;CR536578;CR749580;NG_029499;NM_004436;NM_207042;NM_207043;NM_207044;NM_207045;NM_207046;NM_207047;NM_207168;T78564;X99906 AAD32454;AAF80340;AAF80341;AAH00436;AAH04461;AAH68544;AAH69208;AAQ73827;AAQ73828;AAQ73829;AAQ73830;AAQ73831;AAQ73832;ACE86872;ACE87560;BAF82753;BAG50998;CAA68180;CAB65125;CAG33411;CAG38815;CAH18372;EAW53528;EAW53529;EAW53530;EAW53531;EAW53532;EAW53533;NP_004427;NP_996925;NP_996926;NP_996927;NP_996928;NP_996929;NP_996930;NP_997051;O43768 Hs.632456 1660305;1675929;1680745;1690039;1755025;1781648;1783046;2110933;2182093;7187063 D14S1345;D1S330E;RH44475;RH79733;RH98502;SHGC-141968;SHGC-145179;SHGC-154616;STS-N93765 ARPP-19e;MGC4319;MGC78563;MGC8394 OTTHUMP00000032931;OTTHUMP00000032932;OTTHUMP00000034001;OTTHUMP00000034002;OTTHUMP00000034003;OTTHUMP00000034004;OTTHUMP00000034005;OTTHUMP00000034006;OTTHUMP00000218268;OTTHUMP00000218269;OTTHUMP00000218270;OTTHUMP00000218271;OTTHUMP00000218272;alpha-endosulfine 2314803 GLUCO119_H APPROVED protein-coding ENSG00000143420 3360 11927 603061 REVIEWED 733255 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 9 9 q34 139062374 139068326 - 139942550 139948503 - 1580863;6480464;6907045 18656957;17489562;16101300;15799977;15651265;15496502;15489334;14522593;12888562;12477932;11827541;11591653;10510450;9271669 954 Q5SPY7;Q9Y5L3 ABBA01022738;ABBA01022739;AF144748;AL807752;AMYH01021888;BC011003;BC035738;BQ883059;CB045339;CH471090;EF495152;NG_029427;NM_001246;NM_203468;U91510 AAB81013;AAD40239;AAH35738;ABM83336;ABM86549;ABP58644;EAW88336;EAW88337;NP_001237;NP_982293;Q9Y5L3 Hs.123036 CD39L1;NTPDase-2 CD39 antigen-like 1;CD39-like-1;NTPDase 2;OTTHUMP00000022628;OTTHUMP00000022629;ecto-ATP diphosphohydrolase 2;ecto-ATPDase 2;ecto-ATPase 2;ectonucleoside triphosphate diphosphohydrolase 2 APPROVED protein-coding ENSG00000054179 3364 03600 602012 REVIEWED 1353973 ENUR1 enuresis, nocturnal 1 7240710 7670476 2031 1337171;1341056 D13S263;D13S291 3369 1351202 ENUR2 enuresis, nocturnal 2 7240710 2032 1335874;1340029 D12S43;D12S80 3370 5144567 ENTPD3-AS1 ENTPD3 antisense RNA 1 3 3 p21.33 40376024 40437499 - 40432442 40494799 - 12477932 285266 ABBA01024791;ABBA01024792;ABBA01024793;AC104186;AMYH01013101;BC012301;BC035465;BC047546;BG527749;NR_040100 Hs.619663 1779698;1854564;5117897 G30552;GDB:631813;SHGC-153676 FLJ36665 APPROVED miscrna ENSG00000223797 26710 VALIDATED 1602162 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 9 9 9 q34.3 110854994 110862292 - 139448637 139455722 - 140328816 140335901 - 6480464;6907045 17727821;17095758;16752921;12975309;12477932 377841 H7C5J8;Q5MY95 ABBA01022771;AMYH01021906;AY359088;AY430414;AY903953;AY903954;BC050293;BC141810;BX322799;CH471090;NM_001033113;NM_198585 AAI40369;AAI41811;AAI46510;AAQ89446;AAR04374;AAW83515;AAW83516;EAW88389;NP_001028285;NP_940987;Q5MY95 Hs.512562 GLSR2492;NTPDase-8;UNQ2492 E-NTPDase 8;NTPDase 8;NTPDase8;OTTHUMP00000162649;OTTHUMP00000215696;ecto-ATP-diphosphohydrolase;ectonucleoside triphosphate diphosphohydrolase 8;liver ecto-ATP-diphosphohydrolase;nucleoside triphosphate diphosphohydrolase-8 protein-coding ENSG00000188833 24860 16864 VALIDATED 1343601 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009] 14 14 q24 73502925 73555714 - 74433172 74486026 - 1580863;6480464;6907045 9676430;19117992;18029348;18006831;16465363;16344560;16335952;15698960;12489110;12477932;11041857;10708485;10400613;9271669;22169232;20601676;21074248;22992974 957 G3V3Y0;G3V450;G3V4I0;H0YJH1;O75356 ABBA01030736;ABBA01030737;ABBA01030738;ABBA01030739;AC005480;AC005484;AF039918;AF136572;AMYH01005850;AY430094;BC020966;BC130485;BC130487;CH471061;DB017355;NM_001249 AAC39885;AAI30486;AAI30488;AAK82950;AAR06666;ADR82998;ADR83367;EAW81149;EAW81150;EAW81151;EAW81152;EAW81153;EAW81154;EAW81155;EAW81156;NP_001240;O75356 Hs.720540 1647354;1653460;1740689;1771051;1854136;2182893;2217312 D14S1269;ENTPD5_3228;G35456;G38091;RH66500;SHGC-30190;WI-17770 CD39L4;MGC163357;MGC163359;NTPDase-5;PCPH CD39 antigen-like 4;CD39-like 4;ER-UDPase;GDPase ENTPD5;NTPDase 5;OTTHUMP00000245635;OTTHUMP00000245637;Pcph proto-oncogene protein;UDPase ENTPD5;ectonucleoside triphosphate diphosphohydrolase 5;guanosine-diphosphatase ENTPD5;nucleoside diphosphatase;proto-oncogene CPH;uridine-diphosphatase ENTPD5 APPROVED protein-coding 3367 16015 603162 REVIEWED 1319889 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011] 8 8 8 p21.3 22252129 22277803 - 23346075 23376624 - 23286665 23315244 - 1580863;6480464;6907045 9556635;16344560;15592455;15200686;12477932;10858452;10393803;9205841;18029348;20201926;20537721;15146197;21139048 9583 E5RIB2;H0YAN2;H0YBY8;Q8NE73;Q9Y227 AB002390;ABBA01005542;AC104561;AF016032;AJ131358;AJ246165;AK300464;AMYH01018574;BC034477;CH471080;CN313713;CN313716;DB091432;DB153397;DC341200;NG_030021;NM_001128930;NM_004901 AAC17217;AAH34477;ABM81750;ABM84904;BAA21575;BAG62183;CAB40415;CAB45655;EAW63621;EAW63622;EAW63623;NP_001122402;NP_004892;Q9Y227 Hs.444389 1669351;2162190;5015619;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2279;L18426;SHGC-32556;STS-H92890 KIAA0392;LALP70;LAP70;LYSAL1;NTPDase-4;UDPase NTPDase 4;OTTHUMP00000123535;OTTHUMP00000224884;OTTHUMP00000224951;apyrase, lysosomal;ectonucleoside triphosphate diphosphohydrolase 4;golgi luminal UDPase;guanosine-diphosphatase like protein;lysosomal apyrase-like 1;lysosomal apyrase-like protein of 70 kDa;uridine-diphosphatase APPROVED protein-coding ENSG00000197217 14573 09618 607577 REVIEWED 1321659 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 10 10 10 95156667 95208386 + 101409253 101455454 + 101419263 101471002 + 1580863;6480464 15489334;15164054;14702039;12477932;11278936;20534741;22412388 57089 Q9NQZ7 ABBA01063244;ABBA01063245;AF269255;AK055540;AK056392;AK123516;AK309735;AK314542;AL133353;AL713774;AMYH01002990;AW629210;BC018023;BC119008;BC122857;BX648264;CH471066;CS300521;NM_020354 AAF90135;AAI19009;AAI22858;BAG37130;BAG51533;CAK32185;EAW49860;EAW49861;EAW49862;NP_065087;Q9NQZ7 Hs.28326;Hs.682318 1660215;1661300;1671893;1671895;1689676;1695844;1797810;2142779;2167906;2171485;5015961 A008I22;D15S1477;LALP1_2487;RH44559;RH65628;RH79626;SHGC-34176;SHGC-36179;SHGC-78783;STS-N35618;STS-R62362 DKFZp667O124;FLJ30978;FLJ31830;FLJ41522;FLJ95364;LALP1;MGC141913;RP11-483F11.1 NTPDase 7;OTTHUMP00000020259;ectonucleoside triphosphate diphosphohydrolase 7;lysosomal apyrase-like protein 1 protein-coding 19745 10939 VALIDATED 1345865 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative) ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which is characteristic of NTPases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p11.21 25250075 25281095 + 25124372 25155360 + 25176339 25207360 + 1580863;6480464;6907045 16713569;16381901;16303743;15489336;15489334;14702039;14529283;12477932;11780052;11230166;11076863;11041856;9676430;9271669;19913121;20628086;21900206;21906983;22036096 955 H0Y3D0;H0Y473;H0Y5X0;H0Y6Q1;O75354;Q5QPI7;Q5QPI9;Q5QPJ2;Q5QPJ3;Q5QPJ4;Q5QPJ6;Q5QPJ7 ABBA01048732;AF039916;AF058296;AK074691;AK094030;AK095708;AK124625;AK128412;AK293256;AK295242;AK297954;AK300028;AK300514;AK302395;AK303786;AK308626;AL035252;AL834158;AMYH01011788;AY327581;AY459290;BC025980;CH471133;CR936750;CR936765;NM_001114089;NM_001247 AAC14279;AAC39883;AAH25980;AAP92131;AAR23235;ABM84322;ABW03557;BAG56788;BAG58234;BAG60268;BAG61839;BAG62226;BAG63709;BAG64743;CAD38864;CAL38442;EAX10095;EAX10096;EAX10097;EAX10098;EAX10099;NP_001107561;NP_001238;O75354 Hs.500375 1681843;1725695;1795776;2142461;2176581 ENTPD6_1153;G62111;RH44966;RH45536;STS-N51689 CD39L2;DKFZp781G2277;DKFZp781K21102;FLJ36711;IL-6SAG;IL6ST2;NTPDase-6;dJ738P15.3 CD39 antigen-like 2;CD39-like 2;HCV-E2 binding protein 1;NTPDase 6;OTTHUMP00000030474;OTTHUMP00000030475;OTTHUMP00000030478;OTTHUMP00000030479;OTTHUMP00000030483;OTTHUMP00000030484;OTTHUMP00000030485;OTTHUMP00000030486;OTTHUMP00000030487;ectonucleoside triphosphate diphosphohydrolase 6;ectonucleoside triphosphate diphosphohydrolase 6 (putative function);interleukin 6 signal transducer-2 APPROVED protein-coding ENSG00000197586 3368 16013 603160 REVIEWED 1602633 EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase 3 3 3 p14.1 68952460 68990886 - 69107058 69145464 - 69024368 69062774 - 6480464 14702039;12477932;17207965;21832049;22310717;23522784;16344560;23671640 285203 A8K2U1;B4E243;C9J4G5;C9JQM7;F5H225;Q5NDL2 AA709285;ABBA01030897;AC109587;AJ868234;AK023140;AK091089;AK123213;AK126187;AK290356;AK294101;AK304102;AL833467;AMYH01013260;BC028935;BC060887;BX640821;BX648818;DA856791;KC347596;NM_001278689;NM_173654;NR_103826 AAH28935;AAH60887;ADQ33029;AGC92970;BAC86479;BAF83045;BAG52283;BAG57436;BAG65005;CAE45897;CAI30569;NP_001265618;NP_775925;Q5NDL2 Hs.518059 1643891 STS-D25952 AER61;AOS4;C3orf64;EOGT1;FLJ13078;FLJ33770;FLJ41219;MGC34132 AER61 glycosyltransferase;EGF domain-specific O-linked N-acetylglucosamine transferase;EGF-O-GlcNAc transferase;OTTHUMP00000209643;OTTHUMP00000209644;extracellular O-linked N-acetylglucosamine transferase;uncharacterized glycosyltransferase AER61 APPROVED protein-coding ENSG00000163378 28526 12435 614789;615297 VALIDATED 1601985 ENY2 enhancer of yellow 2 homolog (Drosophila) 8 8 8 q23.1 106534242 106545876 + 110415812 110425087 + 110346552 110358189 + 6480464 18206972;14702039;12477932;11438676;16169070;21746879;8889548;19615732;16344560;21832049;22939629;21139048;21890473;21906983 56943 E5RHT9;E5RHX8;E5RI00;E5RJ84;J3KNT2;Q9NPA8 ABBA01037712;AC021237;AF173296;AF201940;AK000487;AK095651;AK290752;AK316560;AMYH01018958;BC007870;BC051878;BU737295;BX537648;CH471060;CR457183;CS300591;DA548665;DA762166;DB168034;NM_001193557;NM_020189;NR_036471;NR_036472 AAF86876;AAF89829;AAH07870;BAF83441;BAG38149;CAG33464;CAK32255;EAW91927;EAW91928;EAW91929;EAW91930;NP_001180486;NP_064574;Q9NPA8 Hs.492555 1675463;1698630;1856237;2122942;2172746;2179787;2184150;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;RH102871;RH16261;RH70342;RH98525;SHGC-34886;STS-H47347;STS-N30904 DC6;FLJ20480;e(y)2 OTTHUMP00000227945;OTTHUMP00000227946;OTTHUMP00000227949;OTTHUMP00000227950;enhancer of yellow 2 transcription factor homolog protein-coding ENSG00000120533 24449 13121 VALIDATED 1353316 EOMES eomesodermin This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 3 3 p24.1 27732872 27738789 - 27757868 27763785 - 1580863;6480464;6484113 9888994;19269192;18940588;18523274;17353897;16273099;15489334;10407135;20498708;22490682;21076068;12477932;17566017;20056084;21245162;23609452;23455505;21900206;21833088;22190364;18794345;18973570;19036723;8889548;23056278 8320 B7ZA51;G3XAI5;O95936 AB031038;ABBA01024986;AC098614;AJ010280;AK297389;AK297461;AK299499;AK299695;AK316166;AMYH01013045;BC025363;BC037568;BC131712;BM720063;BX096900;CH471055;GN344053;HI574298;NM_001278182;NM_001278183;NM_005442 AAH25363;BAA83417;BAH12568;BAH12586;BAH13052;BAH13105;BAH14537;CAB37939;CAY55962;CBX47638;EAW64387;EAW64388;NP_001265111;NP_001265112;NP_005433;O95936 Hs.591663;Hs.734211 2107055;2114386;2188507 EOMES__7594;G66449;SHGC-76786 TBR2 OTTHUMP00000161129;OTTHUMP00000208392;T-box brain protein 2;T-box brain2;T-brain-2;TBR-2;eomesodermin homolog;t box, brain, 2 APPROVED protein-coding ENSG00000163508 3372 07054 604615 REVIEWED 1604699 EP400NL EP400 N-terminal like 12 12 12 q24.33 132187591 132230319 + 131134811 131176695 + 132568828 132610885 + 6480464 14702039;12477932;21832049 347918 C9JIE5;F2Z2G7;F5GWI7;F8WA08;H9KV84;Q6ZTU2 ABBA01032794;ABBA01032795;ABBA01032796;ABBA01032797;ABBA01032798;AC137590;AC138466;AK090610;AK091234;AK097720;AK126212;AK128208;AK289710;AL117637;AMYH01004902;BC015414;BC066974;NR_003290 BAC03617;BAC05150;BAC86487;BAF82399;BAG52194;CAB56026;Q6ZTU2 Hs.122115 1852611;2131201;2166684;2183820;5015177;5037552;5124684 D8S2279;RH68043;RH69942;RH98890;SHGC-133083;SHGC-64120;STS-H94865 DKFZp434I225;FLJ33915;FLJ44224;FLJ46340;MGC87589 pseudo ENSG00000185684 26602 13413 VALIDATED 1348463 EP300 E1A binding protein p300 This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008] 22 22 q13.2 39818553 39906024 + 41488614 41576081 + 1580966;1580863;2289907;2289908;2312274;2312286;2312287;2312263;2312288;2312265;2311717;2311713;2311716;2326123;5128512;5147892;6480464;6483358;6483503;6484113;6907045;7240710 15706485;14633682;12725419;17083329;19577077;18657544;18413674;18351623;18292809;18697823;19103185;19268536;17163421;16394250;11306337;19364912;20396958 21232847;12435739;12040021;10205054;12586840;10893273;9194565;15261140;10518217;18029348;19344692;19336370;19332536;19299466;11134049;11116148;11113179;11080476;11030627;11020388;10944526;10942770;10918613;10891508;10824998;10823961;10779504;10753971;10722728;10700188;10673036;10656693;10655477;10607594;10567538;10545951;10545121;10506141;10454579;10454341;10440698;10434034;10327051;10075656;10025406;9887100;9862959;9811832;9809062;9806899;9744860;9733868;9733796;9659901;9625762;9590696;9560267;9528808;9407140;9383702;9343424;9288740;9267036;9096323;9001254;8945521;8918891;8917528;8889549;8889548;8684459;7870179;7566098;7523245;16179804;16601680;15611041;15171254;16001085;15725353;15142377;18485870;17977830;14630807;14612423;14612398;14605447;14550555;12972427;12970734;12960163;12941701;12929931;12917345;12914934;12904943;12887902;12789259;12788643;12750254;12748286;12732631;12724314;12696060;12690203;12646247;12604599;12588875;12527917;12483531;12482985;12482752;12477932;12473110;12453427;12446687;12419806;12408818;12391150;12379484;12379213;12371907;12368347;12242694;12237408;12208951;12189208;12162806;12136661;12107410;12107188;12101186;12082103;12050117;12015309;11997499;11994297;11983172;11978637;11967287;11959990;11956210;11943779;11940656;11940655;11940591;11940575;11931769;11931765;11912212;11909954;11864910;11864601;11823643;11788592;11782371;11773079;11744733;11739381;11733503;11726517;11707411;11701890;11691934;11689449;11689053;11564893;11564735;11559821;11547919;11481323;11463834;11463815;11448987;11430825;11349124;11296295;11279157;11278891;11268218;11264182;19281832;19275888;19273602;19270680;19217391;19203349;19200568;19188451;19183483;19166313;19146826;19124506;19074848;19064572;19041714;18995842;18950845;18809579;18797151;18722353;18660489;18644873;18583929;18542060;18495195;18408753;18397880;18243116;18083712;18070920;17975022;17761950;17707401;17623675;17469184;17438265;17410209;17403783;17382325;17299436;17272271;17250547;17226766;17220215;17126870;17065349;16922677;16916647;16809786;16804902;16708385;16704985;16696975;16687403;16672693;16636310;16630816;16622451;16582966;16581781;16461764;16344560;16219772;16109717;15965232;15964811;15951563;15943569;15917652;15890677;15806138;15731352;15718293;15705864;15701643;15649887;15641773;15632193;15615775;15509808;15345715;15337767;15297880;15224190;15186775;15146197;15138260;15123817;15117818;15075319;15066326;14716005;14645221;11782467;11163245;9710619;12479814;11867769;10944516;10593900;11283613;10336495;11371641;10199400;16169070;10490830;10497212;10464260;10887155;11073990;11073989;11443112;11486036;7758944;10973497;9858599;11239394;10933397;10825153;11304541;10846067;10851229;12514134;12730195;14691252;8824223;14585496;12101239;15175427;15933712;15834423;15782138;15893728;15350211;9920895;15380363;22474372;15653507;15333839;15616592;9679056;15558054;15688032;15315758;22770219;14767476;15691758;8986769;15664194;11029584;15494311;14761960;10490106;11196199;15175157;10497242;15225550;8621548;11581164;21205329;19913121;20628086;20418869;17237818;20364308;20388208;16516194;18418072;19995069;20234175;21148070;14722092;17452980;17475621;17510411;17882273;17884810;17906698;17908689;17964260;21268080;21413932;20471956;20587414;20810990;12408825;16712791;12651889;16319895;17158926;17217336;19062177;19276081;19279113;19297328;19948376;20936779;20438716;20448036;14662860;15295102;16326861;16478997;16537920;16613856;16617102;16645043;16678111;16717280;16728531;16734381;16787918;18559531;9660935;10075648;10207070;10330164;10362258;10364202;10438822;10567378;10648616;10708567;10801418;10866661;10899165;10924503;10999956;11073993;11096067;11252719;11278389;11340085;11433299;11481322;11585930;11604511;11755530;11756538;11804596;11896584;11907332;12071960;12244100;12384515;12402037;12456660;12569362;12569367;12649209;12697832;12743039;12776737;12778114;12840021;12861022;14576772;14612417;14633989;14726487;14752096;14755691;14976201;14985122;15004546;15024082;15060161;15102857;15136591;15171256;15189737;15220332;15542844;15572674;15632055;15824515;15843474;16024799;16051665;16325578;16337145;16356938;16397300;16415179;16438982;16648821;16652169;16782091;16931570;17157259;17923090;17970752;18612383;19395477;19489936;19539243;19569050;19570987;19680224;19710011;19730683;19805293;19838210;19880525;19880750;19915063;19966416;20014264;20019387;20069553;20081228;20101207;7760804;9194564;9488451;9660747;9742083;9812974;9826778;9843502;9843571;9989503;9990060;20676058;11823864;11830591;11884585;11923478;11964378;11980644;12200149;12297501;12403783;12437352;12498683;12574227;12665587;12714702;12754253;12758070;12937166;14615581;14691445;16107701;16122695;16126174;16150697;16170350;16204234;16264271;16287840;18458062;18487222;16876108;16917507;16923966;16930961;17050673;17065153;17073437;17075044;18765668;18850005;19001415;19622798;19754958;19801601;19828133;20720004;20932315;20301699;20716062;20859991;21131905;21245169;17289570;17304221;21357426;20564330;20590529;21252119;20368990;11500849;11517158;11567019;11581372;11585920;11689448;12640139;15282304;15308641;15454570;15572696;15598887;15623506;15647825;15668237;15932940;15934135;15987677;18215124;18252717;18263614;18280497;21187066;10235267;10347196;10358095;10575014;10651903;11030335;11058129;14968110;14988403;15001660;15023334;15133024;15136563;15145939;15154850;15192014;18089809;18182168;20717166;9799238;9859997;21764752;21524463;21390126;11359905;15308690;23044042;23121466;11070080;11118214;21471221;21670263;23455922;21179216;20505343;21304179;19592618;19883617;19961954;20711222;20851880;20869593;20870727;20935208;21791614;20065107;20107328;20534441;21629263;21764211;22709982;17502379;21057544;21775285;23125313;21493871;21513714;15546612;17476304;19887647;19940151;21079652;21812888;21903422;12738788;21726808;21857970;22100894;22227192;8995708;10733570;17641689;19234109;21789216;23384777;21444723;22033265;22132193;21525722;21901101;21139048;21565167;21890473;22116549;22203677;22227247;22303793;23419874;14701856;16611888;23643164;23728348;10766811;11313407;16227615;16990252;17050667;17189186;17468099;22672907;11425514;16916636;18552833;21701559;21828133;22384255;15013777;21212407;21567395;21937452;21967847;22177454;22440742;22013068;22100137;22266186;22318606;22318730;22415975;22544934;9773981;23269275;11050151;11314014;16959611;18391200;18451878;19064921;23133622;9199306;22179676;19696166;20333651;22207202;22387215;14668346;16543236;19124466;19419955;21108945;23285190;18566411;20603618;20856196;21282530;21988832;22071692;22231458;22778253;22810585;22936669;23523631;12034848;16096645;17661632;18226242;18760861;19132086;19218448;19275580;19275588;19526283;19716452;19732026;19812265;20012529;15735682;21620138;23184057;23211718;23275444;20226045;20227660;20347598;20578042;21204735;21489275;21669392;21669397;21697490;21875947;21951552;17906639 2033 Q09472;Q7Z6C1 AA235167;ABBA01055620;ABBA01055621;AI302618;AL035658;AL080243;AL096765;AMYH01012797;AMYH01012798;AMYH01012799;BC053889;BQ428177;BQ921059;BQ930911;CA393789;CB132795;CB155618;CF130065;CH471095;CN278277;CN278282;CS498706;D53020;DB047746;DQ229147;N57495;NG_009817;NM_001429;U01877 AAA18639;AAH53889;AAI72280;ABB16440;BAG10860;CAM82745;EAW60408;NP_001420;Q09472 Hs.517517;Hs.655211 1656710;1659465;1788732;1791522;1855505;2108059;2144953;2145735;2152202;2178814;2181726;5023733;5093648 A009U19;AU048745;D22S1541;EP300_8165;G32842;PMC113761P2;RH136048;RH46342;RH65941;SGC38348;STS-N57495;STS-U01877;WI-18189 KAT3B;RSTS2;p300 E1A-associated protein p300;E1A-binding protein, 300kD;OTTHUMP00000198754;histone acetyltransferase p300;p300 HAT APPROVED protein-coding ENSG00000100393 3373 04078 114500;602700;613684 REVIEWED 1312347 EP400 E1A binding protein p400 12 12 q24.33 131000461 131130958 + 132434465 132565011 + 1580863;6480464 14966270;19169279;18985155;18413597;16601686;15741165;15655109;15489334;15302935;15196461;14702039;12963728;12477932;11509179;11347906;10819331;9225980;12421765;17704809;16510874;20876283;16510875;19454010;17721438;18029348;20351180;20548951;12693553;16344560;18087039;21182205;19553677;20332121;20070254;20946988;21320693;23266955;22939629;23064015;20467438;21150319;21963094;23000965;23146670;9194565;21139048;21890473;21906983;22467210 57634 A7E2D7;F8WCN8;Q96L91 AB040931;AB058721;ABBA01032798;AC131009;AC137590;AC137632;AK025040;AK074395;AK096311;AK097299;AK124012;AK127058;AL832718;AMYH01004901;AW376113;AY044869;BC016068;BC037208;BC064554;BC150291;BX369075;CH471054;DA450209;NM_015409;U80743 AAB91441;AAH37208;AAH64554;AAI50292;AAK97789;ADZ16043;BAA96022;BAB47447;BAC04759;EAW98534;EAW98535;EAW98536;NP_056224;Q96L91 Hs.723478 1654503;1655198;1673488;2122375;2141436;2141438;2151353;2157908;5021908;5037746 A002A44;A008Y05;D12S2111;D1S3696;G19868;RH11166;RH44488;RH77857;SHGC-75101;ha2733 CAGH32;DKFZP434I225;FLJ42018;FLJ45115;P400;TNRC12 CAG repeat protein 32;E1A-binding protein p400;OTTHUMP00000237735;domino;domino homolog;hDomino;p400 SWI2/SNF2-related protein;p400 kDa SWI2/SNF2-related protein;trinucleotide repeat containing 12;trinucleotide repeat-containing gene 12 protein protein-coding ENSG00000183495 11958 09378 606265 VALIDATED 1605128 EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009] 1 1 p33-p32 29086215 29319545 + 29213603 29446558 + 6480464;6484113;7240710 16669616;3693401;6894932;16254212;9598318;16060676;19338061;18952129;18691159;18212055;18079699;17994571;17715393;17298666;17087826;16881872;16710414;16537540;16368544;16368534;16157202;15834631;15731777;15714879;15611095;15564380;15527767;15525677;15489334;15238148;15184364;15040429;12960380;12901833;12807908;12601556;12522012;12477932;12427749;12239178;12181426;12130521;12049649;12044158;11737230;11432737;11423550;11071908;11017195;11003675;10887144;10874042;10692436;10359596;10189366;9694734;9660868;9645944;9531554;9207085;8434260;8423235;7937897;7673158;3531202;3467321;3375238;3223413;3194408;2968981;2808371;2384598;2171679;2022644;1647028;1639060;1430200;12542678;17353931;20797695;18029348;16344560;19729518;20007969;8922391;16341674;19794081;19624891;20863723;17500595;21750196;21848512;21486941;22197999;21139048;21890473;22083953;19738201;21808284;23000965;22731252 2035 E9PEW9;Q1WWM3;Q29RX4;Q59F12;Q5VXN8 AB209649;ABBA01035066;ABBA01035067;ABBA01035068;ABBA01035069;ABBA01035070;ABBA01035071;ABBA01035072;ABBA01035073;ABBA01035074;ABBA01035075;AF156225;AF156226;AI076831;AI819579;AK299093;AK299736;AK307816;AK310655;AL009181;AL138785;AL357500;AL833483;AMYH01000439;AMYH01000440;AMYH01000441;BC009063;BC039079;BC096104;BC096105;BC113841;BC114450;BE257308;BM465039;BM740451;BM997767;BU184161;CH471059;DA480006;J03796;M14993;M61733;NG_013344;NM_001166005;NM_001166006;NM_001166007;NM_004437;NM_203342;NM_203343;R94392 AAA35793;AAA35794;AAA35795;AAA35797;AAD42222;AAD42223;AAH39079;AAH96104;AAH96105;AAI13842;AAI14451;ABW03751;BAD92886;BAH12948;BAH13113;EAX07662;EAX07663;EAX07664;EAX07665;EAX07666;EAX07667;EAX07668;NP_001159477;NP_001159478;NP_001159479;NP_004428;NP_976217;NP_976218;P11171 Hs.175437;Hs.708933;Hs.712722 1336246;1653440;1682133;1701678;1711082;1733034;1745761;1758125;1759777;1778668;1848177;1852401;1856391;2108061;2132579;2154563;2155337;2186718;5020948;5037552;5109281 AL009314;D1S1392;D1S1425;D1S2854;D1S3509;D1S3570;D8S2279;EPB41__7595;G34843;G34848;G35510;GDB:636080;RH104511;RH68503;RH98235;SHGC-147460;SHGC-19730;SHGC-36135;SHGC-74472;SHGC-74515;SHGC-86180 4.1R;EL1;HE EPB4.1;OTTHUMP00000003770;OTTHUMP00000003771;OTTHUMP00000003772;OTTHUMP00000003773;OTTHUMP00000003774;P4.1;band 4.1;erythrocyte surface protein band 4.1;protein 4.1 APPROVED protein-coding ENSG00000159023 3377 00558 130500;611804 REVIEWED 68594 EPAS1 endothelial PAS domain protein 1 This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009] 2 2 p21-p16 46378067 46467340 + 46524541 46613842 + 632961;734934;1580977;1580974;1580863;6480464;6483352;6483503;6484113;6907045;7240710 9000051;14608355;15247145;11159352;22169972;20396958 22095691;22113997;9079689;15261140;9576906;11782478;19498162;19477429;19436307;19287200;19252526;19238077;19208626;19129502;19080330;19077391;19030186;19021062;19010893;18957292;18945681;18787502;18728663;18711622;18650473;18625704;18508787;18442887;18423372;18420194;18378852;18319549;18077449;18055454;18024825;17907154;17852557;17570486;17562539;17555795;17526729;17495954;17477366;17452775;17437013;17418410;17417656;17324924;17285230;17220275;17140440;17097563;16920734;16885164;16826581;16760477;16554418;16284786;16278385;16263938;16208515;16098466;15964822;15653678;15652356;15598469;15489334;15247232;15240563;15231748;15217953;15192019;15156561;15039136;14985465;14966910;14744852;14702039;14691554;14668441;14645546;14512791;21389259;12697324;12588875;12477932;12464608;12209691;12123724;11823643;11313887;11018023;10823831;10202154;9110174;8619474;17967880;18372249;14556007;9113979;12823854;9704006;21985026;22402494;22673574;20559021;19913121;20158574;20628086;20395290;20595611;20304964;16407130;20496369;20632821;20824203;20936779;20559438;21073737;21131975;20211142;20961960;20965423;21030426;20224786;20039838;20416395;20551700;15474027;17024177;17718430;18000879;19322701;19386601;19401348;19483472;19541651;19590888;19660915;19706526;19805377;19837976;19903792;19940151;19955413;20028863;20032376;20204822;20354189;20375133;20513003;20534544;8889548;10878807;11331613;21382346;21109953;20964835;21217668;12604794;20807755;21042786;20856199;21057546;21263150;20939709;21081659;21927022;20978319;22894905;21946204;23042097;21571835;21695080;22595196;21512126;21257819;21362301;21658608;22966206;23402259;23563312;2366175;21127501;21483406;20026589;21984395;20015878;21512133;21637285;21840298;21327823;21888897;21983741;21718164;21610325;21841824;22090111;23303559;23333640;23378636;19914104;21906983;21963094;22452996;21925595;11292862;15319539;15611064;17339318;19322201;21044950;21685897;22247019;22779921;22931260;22068265;22093255;22367913;21869830;22277691;19147576;10353251;17684156;17986458;21193393;22684009;23361906;21988832;23212661;23275444;23401859;23227185;23382691;23447580;22807441;23063455;23174107;23334958;18443354;23103253;23194660;22103974 2034 B3KW07;C9J9N2;Q99814 ABBA01075136;ABBA01075137;AC016696;AC016912;AF052094;AK123845;AMYH01010313;BC015869;BC051338;BM671511;CD109908;CH471053;NG_016000;NM_001430;U51626;U81984 AAB41495;AAC51212;AAH51338;AAX93237;AAY14704;BAG53969;EAX00255;NP_001421;Q99814 Hs.468410 1339229;1674161;1715327;1718521;1734966;2111047;2122897;2126363;2150057;2169700;2169702;2181793;5017457 A006E13;D2S1715E;D2S246E;D2S288;Epas1;G20740;RH120495;RH122462;RH16555;RH71235;SGC34838;SHGC-33342;STS-M78744 ECYT4;HIF2A;HLF;MOP2;PASD2;bHLHe73 EPAS-1;HIF-1-alpha-like factor;HIF-1alpha-like factor;HIF-2-alpha;HIF2-alpha;OTTHUMP00000159033;PAS domain-containing protein 2;basic-helix-loop-helix-PAS protein MOP2;class E basic helix-loop-helix protein 73;endothelial PAS domain-containing protein 1;hypoxia-inducible factor 2 alpha;hypoxia-inducible factor 2-alpha;member of PAS protein 2 APPROVED protein-coding ENSG00000116016 3374 06787 603349;611783 REVIEWED 733700 EPB41L1 erythrocyte membrane protein band 4.1-like 1 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a neuronally-enriched protein that is structurally similar to EPB41. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 20 20 q11.2-q12 34163762 34284135 + 34679426 34820721 + 6480464 20471030;17500595;21832049;22939629;19165527;17081983;16964243;16368544;15489334;15345747;14702039;14697242;12676536;12574408;12477932;12444087;12181426;11780052;11136977;11050113;10594058;10414974;9828140;9570967;9205841;18311135;20468064;22863883;19322201;21044950;21890473;23000965;23400781 2036 B7Z653;H0Y482;H7C2K6;Q4VXN0;Q4VXN1;Q4VXN2;Q4VXN5;Q4VXN6;Q4VXN7;Q4VXN8;Q96CV5 AB002336;ABBA01019127;ABBA01019128;ABBA01019129;ABBA01019130;AK096848;AK126875;AK299817;AL035420;AL121895;AMYH01011878;AY049789;BC013885;BC040259;BC113858;BC113899;BC131796;BI457725;BX537978;CH471077;CR936825;DB503878;NG_031853;NM_001258329;NM_001258330;NM_001258331;NM_012156;NM_177996 AAH13885;AAH40259;AAI13859;AAI13900;AAI31797;AAL15446;ABM82278;ABM85457;ACE86750;ACE87436;ACE87847;ACT64366;BAA20796;BAC86733;BAG53378;BAH13139;CAD97941;EAW76144;EAW76145;EAW76146;NP_001245258;NP_001245259;NP_001245260;NP_036288;NP_818932;Q9H4G0 Hs.437422 1340125;1341019;1341646;1659362;1660764;1677510;1713663;1778563;2107057;2111029;2124119;2152056;2191181;5014149;5022779;5493629 BCD2079;D20S143E;D20S587E;D20S865;D20S870;D20S896;EPB41L1;EPB41L1__7596;G30416;MARC_15779-15780:1017948347:1;RH120714;RH129967;RH38950;UniSTS:489963;WI-22026;Z94296 4.1N;DKFZp686H17242;KIAA0338;MGC11072;MRD11 OTTHUMP00000030825;OTTHUMP00000030826;OTTHUMP00000030827;OTTHUMP00000030829;band 4.1-like protein 1;erythrocyte protein band 4.1-like 1;neuron-type nonerythroid protein 4.1;neuronal protein 4.1 APPROVED protein-coding ENSG00000088367 3378 04193 602879;614257 REVIEWED 1314419 EPB41L4A erythrocyte membrane protein band 4.1 like 4A Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM, Jul 2008] 5 5 5 q21.3 107444034 107700724 - 111526214 111782909 - 111498315 111755010 - 1580863;6480464 17081983;14702039;12477932;10874211;10783258;8358434;7983158;20379614;21832049;21810271 64097 Q8N8X1;Q8NEH8;Q9HCS5 AA350575;AA406206;AB030240;ABBA01069057;ABBA01069058;ABBA01069059;ABBA01069060;ABBA01069061;ABBA01069062;AC010261;AC010265;AC104126;AK021578;AK096057;AK123285;AL117425;AMYH01015547;BC015441;BC031042;BC114632;BC114942;CB048933;CH471086;NM_022140 AAH31042;AAI14943;AAI60044;ADZ15957;BAB17229;BAC04690;EAW49010;EAW49011;EAW49012;EAW49013;NP_071423;Q9HCS5 Hs.584954 1647998;1672030;1674390;1676712;1682511;1713473;1726937;1765955;1771391;1780850;1785558;1785560;1785738;2169727;5037552;5037746 D1S3696;D8S2279;G62713;RH120220;RH12382;RH92038;RH93081;SGC31219;SGC33358;SHGC-149352;SHGC-154959;SHGC-154960;SHGC-81567;STS-AA007608;STS-N22681;bac53003S DKFZp566L203;EPB41L4;FLJ38738;NBL4 OTTHUMP00000222912;band 4.1-like protein 4A;erythrocyte protein band 4.1-like 4 APPROVED protein-coding ENSG00000129595 13278 09939 612141 VALIDATED 1320612 EPB41L4B erythrocyte membrane protein band 4.1 like 4B 9 9 9 q31-q32 82433463 82582331 - 110974075 111122842 - 111934254 112083021 - 6480464 10783258;14576147;14521927;10603000;20379614;21988832;23662806;21890473;19322201 54566 Q59GC2;Q9H329;Q9NSG9;Q9NX84 AA588823;AB032179;AB209187;ABBA01042765;ABBA01042766;ABBA01042767;ABBA01042768;AF153416;AF153418;AJ420414;AK000388;AK025249;AL353947;AL358815;AL359963;AMYH01021620;CH471105;NM_018424;NM_019114 AAG43366;AAG43368;AAI56132;BAA91133;BAA96079;BAB15091;BAD92424;CAB89252;EAW59041;EAW59042;EAW59043;EAW59044;NP_060894;NP_061987;Q9H329 Hs.591901 1334974;1337446;1653010;1656867;1667655;1685325;1689436;1757623;1759179;1770356;1780132;2117344;2117991;2191397;5093822;5118997 A009X20;D9S1677;D9S1835;D9S310;G32944;MARC_21252-21253:1032892750:1;RH12312;RH36598;RH80081;RH93040;SHGC-145521;SHGC-152829;SHGC-154438;SHGC-16602;STS-H66834;STS-H94262 CG1;DKFZp761N1814;EHM2;FLJ21596 EHM2;FERM-containing protein CG1;OTTHUMP00000021883;OTTHUMP00000021884;band 4.1-like protein 4B protein-coding ENSG00000095203 19818 09940 610340 VALIDATED 1348118 EPB41L2 erythrocyte membrane protein band 4.1-like 2 6 6 q23 131202180 131319333 - 131160487 131384462 - 1580863;6480464 12974671;18029348;9598318;18023480;16964243;16344560;15302935;15138281;8619474;17353931;12477932;12239178;12181426;12044158;11274145;11050113;9828140;9531554;9110174;8889548;20936779;15851553;15116094;20189245;20379614;18850735;21832049;22863883;22586326;21139048;21890473;21906983;22003208;22331829;16713569;22903471;22797925;21963094;23000965;23382691 2037 B4DJ76;E9PHY5;E9PIG0;E9PII3;E9PJP4;E9PK52;E9PMG5;E9PMV8;E9PN54;E9PPC9;E9PQD2;E9PQN0;E9PRG1;H0Y5B0;I6L9B1;O43491;O60642;Q59FD8;Q6R5J7;Q6ZSX4 AA428071;AB209522;ABBA01025897;ABBA01025898;ABBA01025899;AF027299;AF054999;AJ251209;AK127088;AK295124;AK295958;AK307764;AL050384;AL109938;AL355360;AL357496;AL358943;AL590014;AL698619;AMYH01016673;AY047584;AY512660;BC034718;BI461477;BM679819;BQ446747;CD724095;CH471051;CR749262;CR936793;DA108957;NM_001135554;NM_001135555;NM_001199388;NM_001199389;NM_001252660;NM_001431 AAC09353;AAC16923;AAH34718;AAK95850;AAR97579;ADZ15931;BAC86822;BAD92759;BAG58150;BAG58738;CAB43682;CAC17607;CAH18118;EAW48061;EAW48062;EAW48063;EAW48064;EAW48065;NP_001129026;NP_001129027;NP_001186317;NP_001186318;NP_001239589;NP_001422;O43491 Hs.486470;Hs.708219 1338197;1699314;1715187;1716897;1725793;1739433;1768441;1789250;1849087;2159844;2166611;2174123;2185598;5109657 A007I42;D17S1647E;D6S1209E;D6S1572;G62135;G65625;RH103243;RH119844;RH121741;RH12620;RH45311;RH46849;SGC34451;STS-W68163 4.1-G;4.1G;DKFZp781D1972;DKFZp781H1755 4.1G;OTTHUMP00000017197;OTTHUMP00000233453;OTTHUMP00000233454;OTTHUMP00000233488;OTTHUMP00000233489;OTTHUMP00000233490;OTTHUMP00000233519;OTTHUMP00000233520;OTTHUMP00000233521;OTTHUMP00000233522;OTTHUMP00000233653;band 4.1-like protein 2;erythrocyte membrane protein band 4.1 like-protein 2;generally expressed protein 4.1 protein-coding ENSG00000079819 3379 09126 603237 VALIDATED 7248357 EPB41L4A-AS2 EPB41L4A antisense RNA 2 (head to head) 12477932;14702039;21145461 54508 ABBA01069057;AC010265;AK002097;AMYH01015547;BC107117;BC107118;BX089466;NR_027706 AAI07118;AAI07119;BAA92083 Hs.591264 miscrna 25643 VALIDATED 732325 EPB41L3 erythrocyte membrane protein band 4.1-like 3 18 18 p11.32 5382388 5533986 - 5392388 5543986 - 1300356;1580863;6480464 10888600 12234973;9892180;19165527;19115211;18554153;17640904;17260099;16964243;16420693;16368544;16213361;16205641;16189514;16152585;16142420;15837747;15731777;15688033;15517334;15489334;15345747;15334060;15324660;15138999;15116094;14702039;12542678;12478663;12477932;12421765;12115567;11996670;10231032;9828140;8401585;7566098;17353931;20651987;20936779;16169070;17474147;19299464;19796685;20379614;21081044;18065756;21131357;21163940;21526423;22782504;21628394;21139048;21890473;16242908;16344560;19060904;20467438;23000965;23444366;23455922;21796628;19322201;17620599;22586326;23084401;23184937;16713569 23136 E7EUF8;F5GX05;F5H7W5;J3KRD1;J3KS70;J3KT37;J3QKK4;J3QKY2;J3QLU5;J3QR33;J3QRQ6;J3QS55;J3QS83;Q9Y2J2 AB023204;ABBA01049879;ABBA01049880;AF069072;AF515797;AK094952;AK128531;AK292583;AK294610;AK294690;AK295453;AK297406;AK303679;AK307751;AK307904;AK314438;AL832598;AMYH01008786;AP005059;AP005671;BC006141;BC008377;CH471113;DA317127;DB301724;GN344055;NM_001281533;NM_001281534;NM_001281535;NM_012307 AAC79806;AAH06141;AAH08377;AAM48247;BAA76831;BAF85272;BAG37049;BAG52962;BAG54690;BAH11823;BAH11849;BAH12074;BAH12571;BAH14014;CAY55963;EAX01644;EAX01645;NP_001268462;NP_001268463;NP_001268464;NP_036439;Q9Y2J2 Hs.213394 1687317;1694702;1724709;1734560;1855729;2108757;5017635 D18S1246;D18S920E;EPB41L3;EPB41L3__7597;G43541;RH122558;RH98322 4.1B;DAL-1;DAL1;FLJ37633;KIAA0987 OTTHUMP00000162300;band 4.1-like protein 3;differentially expressed in adenocarcinoma of the lung protein 1;erythrocyte protein band 4.1-like 3 protein-coding ENSG00000082397 3380 05622 605331 VALIDATED 2290192 EPB41L4A-AS1 EPB41L4A antisense RNA 1 5 5 5 q22.2 107441942 107443917 + 111524125 111524816 + 111496223 111498198 + 6480464 16973895;15994437;15489334;12477932;9490301;16344560 114915 AB002437;AB048207;ABBA01069062;AC010261;AMYH01015547;BC101844;BC112077;CH471086;DA266578;NR_015370 BAB64313;EAW49016 Hs.12082 1672030;1771391;5493391 SGC31219;SGC33358;UniSTS:485944 C5orf26;MGC126893;MGC138282;NCRNA00219;TIGA1 APPROVED miscrna 30749 18184 VALIDATED 1313258 EPB42 erythrocyte membrane protein band 4.2 Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q15-q21 41276720 41300773 - 43489425 43513323 - 1580863;1598910;6480464;7240710 1558976 8608138;12970870;1350227;19269200;16718373;14551146;12576321;12477932;12434312;12393467;12176912;12049649;11936273;11390390;10610180;10333496;8889548;8499466;7925374;7819064;7803799;7772513;7626035;3276554;2968981;2300550;2052563;1826225;1729896;1689063;1544941;1284644;12646258;20007969;21039340;18624398;18051367 2038 F5H563;H3BPV8;H3BTE6;H3BUR1;P16452 ABBA01038351;AC068724;AK297146;AK297663;AMYH01006588;BC096093;BC096094;BC096095;BC099627;BU741892;CH471125;DW451374;L06519;M29399;M30646;M30647;M60298;NG_011505;NM_000119;NM_001114134 AAA35798;AAA36401;AAA36402;AAA52385;AAA74589;AAH96093;AAH96094;AAH96095;AAH99627;BAH12509;BAH12644;EAW92591;EAW92592;NP_000110;NP_001107606;P16452 Hs.368642 1645444;1671187;1677508;1698126;5125140 RH102596;RH17526;RH45576;RH79589;WI-16760 MGC116735;MGC116737;PA;SPH5 OTTHUMP00000161294;P4.2;erythrocyte membrane protein band 4.2;erythrocyte protein 4.2;erythrocyte surface protein band 4.2 APPROVED protein-coding ENSG00000166947 3381 01517 177070;612690 REVIEWED 1322786 EPB41L5 erythrocyte membrane protein band 4.1 like 5 2 2 2 q14.2 114097494 114263547 + 120487139 120653165 + 120770604 120936697 + 6480464 17920587;14702039;12477932;10997877;21182205;21832049;21139048;21890473;22747683;18729074 57669 Q53T34;Q9HCM4 AB046768;ABBA01045917;ABBA01045918;AC012363;AC016691;AC079879;AK023019;AK290895;AK304831;AK307458;AMYH01010990;BC032822;BC054508;CH471103;DB524549;NM_001184937;NM_001184938;NM_001184939;NM_020909 AAH32822;AAH54508;AAX88859;AAY14798;AAY14980;ACE86792;ACE87479;BAB13374;BAB14360;BAF83584;BAG65576;EAW95233;EAW95234;EAW95235;EAW95236;NP_001171866;NP_001171867;NP_001171868;NP_065960;Q9HCM4 Hs.369232 1665339;1683359;1688608;1688875;1699918;1751701;2132820;2143883 A002V05;D2S2125;NIB1668;RH103567;RH79778;RH93110;SHGC-105731;SHGC-36338 BE37;FLJ12957;KIAA1548;YMO1 OTTHUMP00000162130;OTTHUMP00000203672;OTTHUMP00000203710;OTTHUMP00000206733;OTTHUMP00000206734;band 4.1-like protein 5 protein-coding ENSG00000115109 19819 13273 611730 VALIDATED 1347008 EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) 18 18 18 q12.3 40235723 40355455 - 41681572 41801303 - 43427574 43547305 - 737633;6480464 12477932 18649358;17549423;16344560;15722956;14702039;10997877;8889548;15231748;23222957;20550938 57724 K7EM87;K7ENK5;K7ENS1;K7EPN4;Q9BTI0;Q9HCE0 AB046852;ABBA01022330;ABBA01022331;ABBA01022332;AC087685;AC090355;AK023817;AK094080;AL583915;AMYH01008970;BC003695;BC036911;BC130614;BC144103;BC144104;BC144105;BM680107;CH471088;DB065073;DB235183;NM_020964 AAH03695;AAH36911;AAI30615;AAI72417;BAB13458;BAB14689;CAC29499;EAX01465;NP_066015;Q9HCE0 Hs.514843 1654188;1656356;1660201;1695694;1734550;1760293;1854010;2134231;2160360 D18S904E;G19287;L17778;SHGC-132901;SHGC-35981;SHGC-78736;STS-D60334;STS-N25085;WI-17792 DKFZp667P2311;HEEW1;KIAA1632;VICIS;hEPG5 OTTHUMP00000163465;ectopic P granules protein 5 homolog;hypothetical protein LOC57724 APPROVED protein-coding ENSG00000152223 29331 11157 242840;615068 VALIDATED 6767326 EPHA1-AS1 EPHA1 antisense RNA 1 7 q35 143104906 143220542 + 21460841 285965 AACC02000107;ABBA01034136;ABBA01034137;ABBA01034138;AC073264;AC092214;AL833583;AMYH01018007;AMYH01018008;CH236959;NR_033897 Hs.642649 1718353;1728431;1755999;1869120;2116980;2124395;2143787 G63650;GDB:1317896;REN5229;RH122948;SHGC-142814;SHGC-56978;WI-11069 APPROVED miscrna 27799 VALIDATED 1314407 EPC1 enhancer of polycomb homolog 1 (Drosophila) This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 10 10 p11 32597865 32676119 - 32557859 32636113 - 1580863;6480464 10976108;18984674;17192267;16964243;15647280;15536069;15489334;15196461;15164054;14966270;14702039;12963728;12477932;11318600;10527689;9237112;17573780;16385451;16387653;19484761;19359245;20332121;20946988;10737800;15146197;16712791;23103869;7829101;22467210;22509378 80314 Q68DJ2;Q96LF4 AA553969;ABBA01033381;ABBA01033382;AF040182;AF062180;AF069038;AF088632;AF277374;AF286905;AK024329;AK092304;AK299676;AK309309;AK309822;AL158834;AL391839;AL445071;AMYH01002223;AW021213;BC036529;BI029680;BI461563;BU195035;BX476993;CB159405;CH471072;CN370473;CR749375;D60263;DB070690;NM_001272004;NM_001272019;NM_025209;NR_073538 AAC02458;AAC18216;AAC26728;AAC96247;AAG41402;AAH36529;AAK60501;BAB14888;BAC03857;BAG61585;CAH18228;EAW85972;EAW85973;EAW85974;EAW85975;NP_001258933;NP_001258948;NP_079485;Q9H2F5 Hs.449276;Hs.720416;Hs.743354 1684734;1726957;1768703;2110515;2141415;2144315;2157268;2178430;2182009;2191637;5016596;5022200;5022450;5022933;5124407 1412;AFM353tb5;D10S275;G30548;G62724;GDB:631802;L18426;MARC_31672-31673:1068148216:1;MARC_33810-33811:1053549243:1;RH45815;RH69050;SHGC-57716;STS-N49717;WI-18095;ksks391 DKFZp781P2312;Epl1 OTTHUMP00000019413;OTTHUMP00000019414;OTTHUMP00000019416;enhancer of polycomb 1;enhancer of polycomb homolog 1 protein-coding ENSG00000120616 19876 09941 610999 REVIEWED 1316366 EPC2 enhancer of polycomb homolog 2 (Drosophila) 2 2 2 q23.1 143116707 143259286 + 149119038 149261606 + 149402560 149545136 + 6480464 18464913;18330920;15647280;15489334;14966270;14702039;12477932;16387653;20379614;21123754;17573780;20946988;20332121;21890473;22659877 26122 C9J1X4;E7ETK1;E9PBA8;H7C0K5;Q52LR7 ABBA01028002;ABBA01028003;ABBA01028004;AC016763;AC017080;AF286904;AK001433;AK002010;AK125789;AL117558;AMYH01011157;AMYH01011158;AMYH01011159;BC093818;BC093820;CH471058;NM_015630 AAH93818;AAH93820;AAK60500;AAY14754;AAY24275;BAA91688;BAA92032;BAG54249;CAB55993;EAX11547;EAX11548;EAX11549;NP_056445;Q52LR7 Hs.23270 1647092;1669943;1748405;1850582;2172461 D2Ertd694e;D2S2894;G34100;RH77961;WI-17630 DKFZp566F2124;EPC-LIKE OTTHUMP00000204350;enhancer of polycomb homolog 2 protein-coding ENSG00000135999 24543 13274 611000 VALIDATED 1343278 EPDR1 ependymin related 1 The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011] 7 7 7 p14.1 37944872 37976255 + 37926688 37958068 + 37960163 37991543 + 6480464 18374504;16713569;12690205;12477932;11943480;11749721;11248421;20379614;16344560;16908269;16954209;17302986;20556588;23455922;21732829 54749 A4D1W8;D6RIH7;Q96J80;Q9UM22 AACC02000036;ABBA01056922;ABBA01056923;AC018634;AF361252;AJ250475;AK290885;AK309180;AMYH01017188;AY027862;BC000686;BC018299;CH236951;CH471073;DA938402;DB167672;DB303790;DQ914439;NM_001242946;NM_001242948;NM_017549 AAH00686;AAH18299;AAK15788;AAK26441;ABI84106;BAF83574;CAB60269;EAL23982;EAW94086;EAW94087;NP_001229875;NP_001229877;NP_060019;Q9UM22 Hs.563491 2163127 RH45952 EPDR;MERP-1;MERP1;UCC1 OTTHUMP00000128380;ependymin related protein 1;mammalian ependymin related protein 1;mammalian ependymin-related protein 1;upregulated in colorectal cancer gene 1 protein APPROVED protein-coding ENSG00000086289 17572 16865 REVIEWED 1605556 EPGN epithelial mitogen The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 4 4 4 q13.3 72534457 72539560 + 75393068 75398171 + 75174187 75182520 + 2317963;6480464 15982853 22610502;112783;16469638;16712791;17169360;19760033;21514161;22193422;22260327;15611079;15340161;12975309;12477932;11278323;22747683 255324 A0PK19;H3BM13;Q6UW88 ABBA01022994;AC097470;AK289455;AMYH01014303;AY358920;BC127938;BC127939;CB150835;DQ235264;DQ235265;DQ235266;DQ235267;DQ235268;DQ235269;JA738739;NM_001270989;NM_001270990;NM_001270991;NM_001270992;NM_001270993;NR_073114;NR_073117 AAI27939;AAI27940;AAI40432;AAI46548;AAQ89279;ABB60043;ABB60044;ABB60045;ABB60046;ABB60047;ABB60048;BAF82144;CCF77022;NP_001257918;NP_001257919;NP_001257920;NP_001257921;NP_001257922;Q6UW88 Hs.401237 1852125;2169064;5015861;5020988;7185938 D10S16;D22S958;SHGC-50860;SHGC-8120 ALGV3072;EPG;FLJ75542;PRO9904;epigen OTTHUMP00000219187;OTTHUMP00000219188;OTTHUMP00000219189;OTTHUMP00000219190;OTTHUMP00000219191;OTTHUMP00000219194;epigen;epithelial mitogen homolog APPROVED protein-coding 17470 10866 REVIEWED 1347579 EPHA10 EPH receptor A10 Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008] 1 1 1 p34.3 36459675 36508664 - 37954233 38003411 - 38181646 38230824 - 737633;6480464 12477932 18819711;15777695;15489334;14702039;21737611;22219177 284656 E7EML7;F5GWI2;H0YCC9;H0YD12;H0YEP6;H0YER4;J3KQG3;Q4G0R4;Q5JZY3;Q8N289 ABBA01023268;ABBA01023269;ABBA01023270;AC104336;AJ781169;AJ872185;AK090974;AK131215;AK309089;AMYH01000503;AMYH01000504;AY726560;BC039363;BC041360;BC067734;BC112933;CH471059;NM_001099439;NM_173641 AAH41360;AAH67734;AAI12934;BAC03561;BAD18404;CAG77605;CAI43321;EAX07321;EAX07322;EAX07323;NP_001092909;NP_775912;Q5JZY3 Hs.129435 1336566;1677046;1761841;5015861;5022450;5024761;5037552;7185938 D10S16;D10S275;D1S186;D8S2279;RH36905;RH99295;SHGC-145791 FLJ16103;FLJ33655;MGC43817 EphA10s protein;OTTHUMP00000004519;OTTHUMP00000232296;ephrin type-A receptor 10 APPROVED protein-coding ENSG00000183317 19987 08163 611123 VALIDATED 1345999 EPCAM epithelial cell adhesion molecule This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008] 2 2 p21 47449971 47467661 + 47596287 47614167 + 1580863;6480464;7240710 22396540;18025791;1729376;19585654;19443410;19401692;19302955;19294417;19177550;19157508;19150350;19141643;19136966;19132011;19098912;19019843;19012040;19002182;18949402;18688077;18572020;18508581;18508568;18398839;18316609;18006828;17981779;17579117;17186549;17143526;16616808;16344560;16096650;16054130;15942643;15922867;15637741;15557427;15489334;15342556;15240533;15195135;15131054;15102668;14557747;12926061;12642870;12592372;12477932;11306819;11080501;11058587;10761711;10728619;8382772;7693697;3770992;2911574;2469722;2463074;2333300;2108441;15328177;21107020;22718295;20012351;21309036;18285265;19455606;19574774;19584271;19723880;19785009;19820410;19850885;19925656;20006402;20064925;20097833;22531681;20352488;20707805;20137349;20579375;21145788;20606680;20628624;20683652;21115857;20855955;20976159;20606402;21152431;17192395;21281486;21281469;23060348;22969266;23072840;21601258;21694727;21315192;21399662;21785818;21415054;21813394;21791569;22102232;22018336;22901285;23011824;23110550;23153310;21139048;21890473;21906983;22002520;20571936;22130902;20964518;22514625;22132731;20301390;22388758;22547929;17110338;23486470;22987628;23216644;22391566;22993038;22322561;22974215;23411950;22989882 4072 B5MCA4;C9JKY3;P16422 ABBA01075158;ABBA01075159;AC079775;AK026585;AMYH01010323;AMYH01010324;AW050533;BC014785;BP262680;CH471053;CQ800737;CR542259;CR542283;DA963872;DB044092;M26481;M32306;M32325;M33011;M93036;NG_012352;NM_002354;X14758 AAA35723;AAA35861;AAA36151;AAA59543;AAB00775;AAH14785;AAY15095;ABM82264;ABM85446;CAA32870;CAG28087;CAG47055;CAG47078;EAX00218;EAX00219;NP_002345;P16422 Hs.542050 1646124;1662377;1682720;1849638;2218072 RH65104;RH67888;STS-M26481;STS-N92767;TACSTD1_2793 CO-17A;CO17-1A;DIAR5;EGP;EGP-2;EGP314;EGP34;EGP40;ESA;Ep-CAM;GA733-2;HNPCC8;KS1/4;KSA;M4S1;MIC18;MK-1;TACST-1;TACSTD1;TROP1;hEGP-2 OTTHUMP00000159073;OTTHUMP00000200307;OTTHUMP00000200426;adenocarcinoma-associated antigen;cell surface glycoprotein Trop-1;epithelial cell adhesion molecule;epithelial glycoprotein 314;human epithelial glycoprotein-2;major gastrointestinal tumor-associated protein GA733-2;membrane component, chromosome 4, surface marker (35kD glycoprotein);tumor-associated calcium signal transducer 1 APPROVED protein-coding ENSG00000119888 11529 01709 185535;613217;613244 REVIEWED 1312265 EPHA1 EPH receptor A1 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008] 7 7 q34 142798327 142816107 - 143088205 143105985 - 1580863;6480464;6484113 2825356;19277044;19118217;19011600;18990944;18728013;18593464;18590698;18566674;18308734;17980912;16964243;16862074;16737551;16344560;15951569;15146197;12853948;12477932;11519828;11256076;11128993;10730216;10502115;10369740;10207129;9576626;9530499;9267020;8755474;19913121;20628086;21460841;19949912;14968112;15761153;18802966;19525919;20043122;21042754;21460840;12775584;21503576;20596523;21906983;22261062;22362770;22939624;23030051;22688511 2041 B5A967;P21709 AA723562;AA723620;AA788809;AACC02000107;ABBA01034136;ABBA01034137;AC092214;AF101171;AI057542;AK290351;AK313263;AMYH01018007;AU131228;BC130291;BC144156;CD653381;CH236959;CH471198;CN289899;CN289901;EU826604;EU826605;M18391;NM_005232;Z27409 AAA36747;AAD43440;AAI30292;AAS07458;ACF47640;ACF47641;BAF83040;CAA81796;EAL23789;EAW51845;EAW51846;EAW51847;NP_005223;P21709 Hs.89839 1688833;1698300;1849764;2110097;2129683;2162887;5121846 D20S1007;G10664;RH102690;RH12060;RH47177;RH69086;ZYX_3067 EPH;EPHT;EPHT1;MGC163163 EPH tyrosine kinase;OTTHUMP00000208856;eph tyrosine kinase 1;ephrin type-A receptor 1;erythropoietin-producing hepatoma amplified sequence;erythropoietin-producing hepatoma receptor;hEpha1;oncogene EPH;soluble EPHA1 variant 1;soluble EPHA1 variant 2;tyrosine-protein kinase receptor EPH APPROVED protein-coding ENSG00000146904 3385 01554 179610 REVIEWED 68566 EPHA3 EPH receptor A3 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] 3 3 p11.2 89239364 89613974 + 89156674 89531284 + 1304509;68243;2301766;1581943;2317720;6480464;6484113 15561600;9458884;16083359;15671251;14670182 15355990;17192257;16941478;16239146;14759258;14702039;14697337;12477932;11877430;11870224;11256076;11128993;10987298;10730216;10207129;9932438;9751130;9685371;9576626;9530499;9267020;9245480;9195962;8559144;8188238;8070404;1311845;11494128;9632142;1737782;19351817;18814179;18547520;18385452;20838624;16186805;19469653;19678838;21124932;20657180;17910947;21454190;21190559;21415057;22242939;17955473;23324396;22863734;22829656;22350700;21988832;23410976 2042 C9JXA2;P29320;Q6P4R6 A28003;ABBA01004642;ABBA01004643;AC107028;AC109129;AC138973;AF213459;AF213460;AK024352;AK291411;AMYH01013328;AMYH01013329;AMYH01013330;AMYH01013331;AMYH01013332;AMYH01013333;BC026247;BC063282;CH471110;CS542492;GM868965;HM437236;M83941;NG_023239;NM_005233;NM_182644 AAA58633;AAG43576;AAG43577;AAH63282;ADN43067;BAF84100;CAA01906;CAM91183;CAT16931;EAW68857;NP_005224;NP_872585;P29320 Hs.123642 1703798;1716577;1720045;1729464;2113754;2172734;5113664 AB056784;D3S1101;D3S2366;RH121633;RH123819;RH93446;SHGC-79129 EK4;ETK;ETK1;HEK;HEK4;TYRO4 EPH-like kinase 4;OTTHUMP00000213903;OTTHUMP00000213904;OTTHUMP00000213905;TYRO4 protein tyrosine kinase;eph-like tyrosine kinase 1;ephrin type-A receptor 3;human embryo kinase 1;tyrosine-protein kinase TYRO4;tyrosine-protein kinase receptor ETK1 APPROVED protein-coding ENSG00000044524 3387 01555 179611 REVIEWED 1316258 EPHA2 EPH receptor A2 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010] 1 1 p36 16323419 16355151 - 16450832 16482582 - 1580975;1580976;1580863;6480464;6484113;7240710 16359662;16735461 15297418;10207129;7918100;2174105;19306328;19264906;19193766;19074825;19005574;18991394;18768213;18648668;18593464;18566674;18443431;18425361;18198190;18172271;18097589;18079969;18059341;17980912;17519535;17374733;17332925;17192257;17154180;17050670;16969087;16737551;16481735;16428472;16236711;16103880;16098464;16051609;15951569;15671550;15649254;15561974;15498927;15249202;15193868;14965363;14767510;14679012;14633601;12907451;12810680;12651595;12650608;12576426;12496371;12496364;12494475;12477932;12467573;12400011;12370823;12351647;12167657;12147253;11968011;11256076;11146556;11128993;10730216;10655584;10607706;10502115;20602165;9576626;9530499;9267020;9245480;9119409;8755474;8183555;7982920;7973638;7543898;7536959;15688035;20948320;20679435;20516612;20571968;14692877;14988728;15657067;18210872;18339848;18794797;19048396;19101799;19531623;19573808;19642143;19649315;19690146;19724921;19828693;19898482;19934338;19934926;19948216;20028874;20197042;20223987;20228801;20361013;7890684;19950554;19949912;20388851;20360610;19223760;15777695;20614133;21166698;20837138;20861311;21832049;22570727;22939629;21408136;21516087;21205836;21264258;21538645;21686326;21737611;21726568;21873938;22412971;22509030;22635007;22256737;21139048;21890473;21906983;21935409;23298804;22261062;22332920;21575519;22009484;21666714;21987572;19523119;21963094;21988832;22939624;23000965;23037715;21500549;21955398;22184117;22086185;18797457;19322201;22236865;22362770;22001757;23209418;23629968;23238013 1969 P29317;Q96HF4 ABBA01004679;ABBA01004680;AI302504;AK296788;AL451042;AMYH01000280;AY052403;BC008655;BC037166;CB991812;CH471167;CS026995;CS542490;EU826606;GM868963;GM879993;HH976540;M59371;NG_021396;NM_004431 AAA53375;AAH08655;AAH37166;AAL11019;ABM86157;ABW03777;ACF47642;BAG59366;CAI61887;CAM91182;CAT16927;CAV28316;CBX51742;EAW51769;EAW51770;NP_004422;P29317 Hs.171596 1795778;2161919 EPHA2_31;RH17703 ARCC2;CTPA;CTPP1;CTRCT6;ECK OTTHUMP00000011117;ephrin type-A receptor 2;epithelial cell receptor protein tyrosine kinase;soluble EPHA2 variant 1;tyrosine-protein kinase receptor ECK APPROVED protein-coding ENSG00000142627 3386 01494 116600;176946 REVIEWED 1605127 EPHA5 EPH receptor A5 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] 4 4 q13.1 65872241 66218104 - 66185281 66535653 - 6480464;6484113 7898931;16737551;16381901;15489336;11256076;11230166;11128993;11076863;10730216;10531456;10516308;10207129;9576626;9530499;9321687;9321686;9267020;9191074;8755474;7528718;15485908;7973638;22079638;19949912;10064801;10375373;10607706;12477932;19733895;20379614;20596523;19953087;22174851 2044 F8VP57;F8W9W0;P54756 AB209375;ABBA01022877;ABBA01022878;ABBA01022879;AC018683;AC104137;AC105923;AC115223;AK307826;AMYH01014239;AMYH01014240;BC136257;BC136258;BC143427;BX537946;CH471057;L36644;NM_001281765;NM_001281766;NM_001281767;NM_004439;NM_182472 AAA74245;AAI36258;AAI36259;AAI43428;BAD92612;CAD97914;CAL37927;CAL38365;EAX05536;EAX05537;EAX05538;EAX05539;NP_001268694;NP_001268695;NP_001268696;NP_004430;NP_872272;P54756 Hs.654492 1334522;1645553;1647286;1656776;1724839;1850811;1851360;1852339;1852341;2155862;2156127;2171649;5022020;7185414 D4S1574;D4S2683;D4S3280;EPHA5;RH119182;RH45566;SHGC-13970;SHGC-50222;SHGC-67256;SHGC-8247;SHGC4-1516;STS-N22219;STS-N25770 CEK7;EHK-1;EHK1;EK7;HEK7;TYRO4 EHK-1;EK7;EPH homology kinase 1;EPH-like kinase 7;Eph homology kinase-1;OTTHUMP00000159594;OTTHUMP00000159595;OTTHUMP00000218917;OTTHUMP00000223029;brain-specific kinase;ephrin type-A receptor 5;receptor protein-tyrosine kinase HEK7;tyrosine-protein kinase receptor EHK-1 APPROVED protein-coding ENSG00000145242 3389 02474 600004 REVIEWED 1350663 EPHA8 EPH receptor A8 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008] 1 1 p36.12 22762591 22802674 + 22890004 22930087 + 1299522;1580863;6480464;6484113 1648701 16710414;19240061;15782114;15271258;15194108;14986683;12681484;12477932;11416136;11256076;11128993;10819331;10730216;10515610;10498895;10207129;9576626;9568399;9530499;9361271;9267020;9214628;9053851;20029409;20100865;21900206;22291991 2046 P29322 AB040892;ABBA01059848;ABBA01059849;ABBA01059850;AL035703;AMYH01000351;AMYH01000352;BC038796;BC072417;CH471134;GM868971;NM_001006943;NM_020526;X59291 AAH38796;AAH72417;AAI41437;BAA95983;CAA41980;CAT16941;EAW95013;NP_001006944;NP_065387;P29322 Hs.283613 1334953;1757231;1795782;7183855 D1S512;EPHA8_610;SHGC-144654 EEK;EK3;HEK3;KIAA1459 EPH- and ELK-related kinase;EPH- and ELK-related tyrosine kinase;EPH-like kinase 3;OTTHUMP00000002934;OTTHUMP00000002935;ephrin type-A receptor 8;hydroxyaryl-protein kinase;protein-tyrosine kinase;tyrosine-protein kinase receptor EEK;tyrosylprotein kinase APPROVED protein-coding ENSG00000070886 3391 01493 176945 REVIEWED 1345605 EPHA4 EPH receptor A4 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 2 2 q36.1 221990991 222145254 - 222282747 222437010 - 1580863;5688752;5688783;6218956;5688750;5688763;5688771;5688765;5688764;5688772;5688782;6480464;6484113 10336070;16959251;19542617;17970742;22318127;15537875;21736568;21931787;20170651;17418490 9632142;7898931;18837080;18790757;18695888;18628988;17847007;16965393;16574431;16540516;16365308;15994237;15489334;15313894;14576067;12775584;12761826;12496762;12477932;12383247;12084815;11336673;11256076;11128993;11085874;10730216;10607706;10366629;10207129;9576626;9530499;9484836;9345045;9267020;8889548;8755474;8622893;8125298;15688035;20678482;20098747;19949912;20100581;22807579;17143272;21444754;21873938;21875946;21186356;21890473;21935409;21942715;22273509;22939624;23000965;22922411 2043 B7Z6Q8;C9JEM6;C9JFX5;C9JIX8;E9PG71;F5GZZ5;F8WBU0;H7C1N8;H7C2W7;P54764;Q58F15 AA987900;ABBA01023821;ABBA01023822;ABBA01023823;AC010899;AC079834;AF075040;AK225181;AK290306;AK300772;AK312380;AL603465;AMYH01011514;BC016981;BC026327;BC105000;BC105002;BM676153;BM679073;BM680394;BM712812;BM724253;BQ009361;CH471063;CS163790;GM868967;L36645;NM_004438 AAA74246;AAH26327;AAI05001;AAI05003;AAX81994;AAY24283;AAY24284;BAF82995;BAG35298;BAH13344;CAJ32200;CAT16933;EAW70785;EAW70786;NP_004429;P54764 Hs.371218 1658898;1663517;1676636;1703264;1797502;1850603;2113562;2128325;2161537;2173891;2220542 A004S26;EPHA4_1970;MARC_49122-49123:1117732036:1;RH12531;RH46518;RH70277;RH78262;RH93447;SHGC-24374;STS-T47772;UniSTS:484284 HEK8;SEK;TYRO1 EK8;EPH-like kinase 8;OTTHUMP00000164185;OTTHUMP00000204491;TYRO1 protein tyrosine kinase;ephrin type-A receptor 4;receptor protein-tyrosine kinase HEK8;tyrosine-protein kinase TYRO1;tyrosine-protein kinase receptor SEK APPROVED protein-coding ENSG00000116106 3388 03719 602188 REVIEWED 1605546 EPHA6 EPH receptor A6 3 3 q11.2 98016115 98950476 + 96533425 97467786 + 6484113;6480464 16641997;16344560;15271258;15194108;14986683;14726470;14702039;12975309;12477932;12471243;12084815;11128993;10730216;10607706;20950786;19850283;20011078;20379614;8755474;21987572;23251661 285220 B3KS12;B4DXM2;B4DXQ6;D6RAL5;E7EU71;F5H0Z8;H0Y8K5;H0Y9V0;J3KR66;Q9UF33 ABBA01026940;ABBA01026941;ABBA01026942;ABBA01026943;ABBA01026944;AC107482;AC108714;AC109782;AC110717;AC117439;AC117470;AC119745;AC130510;AC134730;AC135369;AK092565;AK302040;AK302080;AK310249;AL133666;AMYH01013348;AMYH01013349;AMYH01013350;AMYH01013351;AY358738;BC031881;BC067287;BX099374;CH471052;DA385338;DC398430;DN991634;DR731365;DV080244;HC006940;NM_001080448;NM_001278300;NM_001278301;NM_173655 AAI56734;AAQ89098;BAG52574;BAG63434;BAG63468;CAB63775;CBH19275;EAW79885;NP_001073917;NP_001265229;NP_001265230;NP_775926;Q9UF33 Hs.653244 1710474;1710492;1711106;1715543;1725041;1750769;1753699;1762769;2139988 RH118817;RH120914;SHGC-102341;SHGC-107627;SHGC-12079;SHGC-146553;SHGC-86196;SHGC-86254;SHGC-86263 DKFZp434C1418;EHK-2;EHK2;EK12;EPA6;FLJ35246;HEK12;PRO57066 EHK-2;EPH homology kinase 2;EPH-like kinase 12;OTTHUMP00000214353;OTTHUMP00000217552;OTTHUMP00000217916;OTTHUMP00000217917;ephrin receptor EphA6;ephrin type-A receptor 6 protein-coding ENSG00000080224 19296 600066 VALIDATED 732959 EPHA7 EPH receptor A7 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] 6 6 q16.1 94007860 94185993 - 93949738 94129300 - 1580863;1304509;70732;2301957;6480464;6484113 15561600;7731712;16983667 11152476;14574404;12477932;11256076;11128993;11029633;10730216;10366629;10207129;9892426;9707552;9576626;9530499;9267020;9010230;8889548;8755474;7898931;18821581;18366728;17726105;17669470;17236141;16344560;16007213;15489334;14718574;21546767;20126984;19949912;20379614;21124932;21609571;20302756;22246354;22036564;21890473;21935409;22095909;21987572;21988832;21964981 2045 Q9H124 AB209269;ABBA01040580;ABBA01040581;AK313529;AL121966;AL354857;AL591036;AL699163;AMYH01016515;BC027940;BC126125;BC126151;BC143857;BC143858;BM677016;CH471051;DA503795;GM868969;L36642;NM_004440 AAA74243;AAH27940;AAI26126;AAI26152;AAI43858;AAI43859;BAD92506;BAG36308;CAT16938;EAW48518;EAW48519;EAW48520;EAW48521;NP_004431;Q15375 Hs.73962 1298306;1684114;1725241;1768815;1795780;1858501 D6S1056;D6S1293;D6S1942;EPHA7_329;RH103361;RH118913 EHK3;HEK11 EHK-3;EK11;EPH homology kinase 3;EPH-like kinase 11;Eph homology kinase-3;OTTHUMP00000016875;ephrin type-A receptor 7;receptor protein-tyrosine kinase HEK11;tyrosine-protein kinase receptor EHK-3 APPROVED protein-coding ENSG00000135333 3390 03721 602190 REVIEWED 1605126 EPHB2 EPH receptor B2 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] 1 1 p36.1-p35 22909918 23114410 + 23037331 23241823 + 6480464;6484113;7240710 20838624;8589679;19454503;19366806;18957513;18713744;18695888;18682749;18628988;17655843;17295683;17234965;17192257;16840724;16819508;16740153;16710414;16298995;16272170;16166419;16155194;15973414;15951569;15848800;15821731;15722342;15718372;15300251;15126357;15107857;12972619;12546821;12477932;12389031;12297313;12136247;12063024;12058067;12039842;11956217;11799243;11780069;11754835;11585923;11580899;11494128;11256076;11128993;11042694;10839360;10730216;10648599;10644995;10572014;10570155;10542222;10537323;10523848;10508479;10480933;10330152;10207129;10053012;9933164;9883737;9707552;16582626;9696046;9576626;9530499;9499402;9267020;9233798;8878483;8798570;8033077;7898931;7816602;7688222;7601466;1648701;9632142;11641781;15225643;8755474;19913121;20628086;20634891;21292437;20339854;11940661;14968112;17318185;19597185;19661068;19962662;20046096;20233847;22723427;21503576;21603658;21161727;17428795;21737611;21387540;22610405;22233626;21139048;21987572;22310282;23000965;23413357;18797457;21809346;22010211;22374425;17443671 2048 B1AKC9;P29323;Q6NVW1 AB210018;ABBA01059858;ABBA01059859;AF025304;AK298898;AK299701;AL035704;AL158086;AL512444;AL530874;AL611946;AMYH01000354;BC007903;BC018763;BC041017;BC067861;BQ641281;CH471134;D14717;D31661;D37827;GM868975;HM437237;L36643;L41939;NG_011804;NM_004442;NM_017449;X59292 AAA74244;AAA99310;AAB94602;AAH67861;AAI46297;ADN43068;BAA03537;BAA06506;BAA07073;BAE06100;BAG61009;BAG61602;CAA41981;CAT16948;EAW95022;EAW95023;EAW95024;EAW95025;EAW95026;NP_004433;NP_059145;P29323 Hs.523329 CAPB;DRT;EK5;EPHT3;ERK;Hek5;MGC87492;PCBC;Tyro5 EPH-like kinase 5;OTTHUMP00000002914;OTTHUMP00000002915;OTTHUMP00000002916;OTTHUMP00000002917;developmentally-regulated Eph-related tyrosine kinase;elk-related tyrosine kinase;eph tyrosine kinase 3;ephrin type-B receptor 2;protein-tyrosine kinase HEK5;renal carcinoma antigen NY-REN-47;tyrosine-protein kinase TYRO5;tyrosine-protein kinase receptor EPH-3 2292800 PRSTS10_H APPROVED protein-coding ENSG00000133216 3393 02997 600997;603688 REVIEWED 1353347 EPHB1 EPH receptor B1 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] 3 3 q21-q23 135996950 136461999 + 134514099 134979309 + 1580863;6480464;6484113 8798570;8666391;18931529;18649358;18628988;18593464;18424888;18057206;18034775;15951569;15722342;15340161;15107421;14702039;14576067;12925710;12477932;12223469;12118063;12084815;11713248;11256076;11140838;11128993;10730216;10669731;10207129;10066262;9736245;9576626;9530499;9499402;9430661;9267020;9245480;8889548;8755474;8559144;8070404;7973638;7689724;21041834;21085126;16344560;19736353;20379614;21124932;21804545;21763378;19786833;22589738;23118026 2047 B3KTB2;C9J466;C9J6S4;C9JB88;C9K090;F8WDG5;P54762 ABBA01059142;ABBA01059143;ABBA01059144;ABBA01059145;ABBA01059146;ABBA01059147;ABBA01059148;ABBA01059149;ABBA01059150;ABBA01059151;AC016931;AC016951;AC063918;AC073244;AC092969;AF037333;AF037334;AK095305;AK291208;AK309741;AMYH01013514;AW207121;BC111744;BM665724;CH471052;DA107464;EU826607;GM868973;JA738603;L40636;NM_004441 AAB08520;AAB94627;AAB94628;AAI11745;ACF47643;BAF83897;BAG53024;CAT16944;CCF76954;EAW79127;EAW79128;EAW79129;NP_004432;P54762 Hs.116092 1335647;1336175;1338114;1651239;1658949;1682836;1704350;1725199;1746981;1752321;1764715;1784642;1795784;2136644;2139302;2187389 D3S1590;D3S3641;D3S3696;EPHB1_198;G09350;G09515;G19166;G64902;RH118892;RH65591;SHGC-106261;SHGC-132302;SHGC-148306;SHGC-1723;SHGC-78165;WI-16892 ELK;EPHT2;FLJ37986;Hek6;NET EK6;EPH-like kinase 6;OTTHUMP00000216707;OTTHUMP00000216708;eph tyrosine kinase 2;ephrin type-B receptor 1;neuronally-expressed EPH-related tyrosine kinase;soluble EPHB1 variant 1;tyrosine-protein kinase receptor EPH-2 APPROVED protein-coding ENSG00000154928 3392 02790 600600 REVIEWED 1313727 EPHB3 EPH receptor B3 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010] 3 3 q21-qter 185762281 185782890 + 184279587 184300196 + 1580863;6480464;6484113 21266352;12477932;8397371;18978678;15951569;15536074;15489334;11956217;11256076;11128993;10730216;10207129;9990854;9751130;9707552;9674711;9576626;9530499;9484836;9267020;8798744;20634891;21106840;19483190;19607727;22087225;22039307;21804545;22314363 2049 P54753 ABBA01058435;AC112643;AMYH01013724;BC052968;CB993133;CH471052;GM868977;NM_004443;X75208 AAH52968;CAA53021;CAT16951;EAW78236;EAW78237;NP_004434;P54753 Hs.2913 1334919;1758671;1764851;1769015;1795788;1848615;2115206 D3S3583;D3S4004;EPHB3_445;G15957;RH70256;SHGC-148412;SHGC-149120 ETK2;HEK2;TYRO6 EK2;EPH-like kinase 2;EPH-like tyrosine kinase 2;EPH-like tyrosine kinase-2;OTTHUMP00000210455;embryonic kinase 2;ephrin type-B receptor 3;human embryo kinase 2;tyrosine-protein kinase TYRO6 APPROVED protein-coding ENSG00000182580 3394 03502 601839 REVIEWED 1314623 EPHB6 EPH receptor B6 This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 q33-q35 142262914 142278969 + 142552792 142568847 + 1580863;6480464 10984508;9207182;19234485;18819711;18754880;16364251;16169070;15955811;15340161;14612926;12853948;12690205;12517763;12477932;12393850;11713248;11466354;11256076;11128993;10831073;10730216;10648835;10207129;9707552;9576626;9530499;9267020;8889548;21351276;20371680;20952760;19513565;20086179;20181626;16147992;21737611;21811619;22039307;21935409;15146197;18425388;21455264;22223652;23226491;22939624 2051 F8WBX3;F8WCM8;J3KQU5;O15197 AACC02000106;ABBA01034129;ABBA01034130;AC104597;AC239618;AF107256;AL832533;AMYH01018007;AY280502;BC015495;BC047892;BC051028;BC056159;BC110606;BC110607;BM665491;BX414750;CH236959;CH471198;CN283348;D83492;EU054308;HY096414;NM_001280794;NM_001280795;NM_004445;NR_104001 AAD03058;AAI10607;AAI10608;AAP20939;ABV55388;BAA21560;EAL23775;EAW51900;EAW51901;EAW51902;EAW51903;NP_001267723;NP_001267724;NP_004436;O15197 Hs.380089 1713201;1767279;2121313;2136893 IB201;RH120388;RH71266;SHGC-52550 HEP;MGC129910;MGC129911 OTTHUMP00000208518;ephrin type-B receptor 6;human kinase-defective Eph-family receptor protein;tyrosine-protein kinase-defective receptor EPH-6 APPROVED protein-coding ENSG00000106123 3396 04133 602757 REVIEWED 1318921 EPHX4 epoxide hydrolase 4 1 1 1 p22.1 90741979 90775554 + 92268146 92301681 + 92495533 92529093 + 737633;1580863;6480464 12477932 15489334;14702039;20237496;17207965;20723587 253152 Q8IUS5 ABBA01045554;AC104836;AC114486;AK074822;AMYH01000794;BC041475;CH471097;DB475492;NM_173567 AAH41475;ADQ33117;BAC11230;EAW73105;NP_775838;Q8IUS5 Hs.201555 1339896 D1S188 ABHD7;EPHXRP;FLJ90341 OTTHUMP00000011814;abhydrolase domain containing 7;abhydrolase domain-containing protein 7;epoxide hydrolase 4;epoxide hydrolase-related protein protein-coding ENSG00000172031 23758 12408 VALIDATED 736560 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008] 1 1 q42.1 224079599 224099884 + 225997797 226033264 + 1601064;1601063;1601065;1601066;1580863;1300048;4889123;4889120;4889407;4889121;4889122;4889126;4889405;4889406;4140935;4889408;4889124;4889125;5688360;6480464;5688388;5688356;5490167;5688354;5688357;5688732;5688359;5688358;5688390;5490249;2315930;6907045;7240710 11283205;11406608;9288046;12878321;17564249;20932192;17711870;18811882;18614560;14593914;12579334;10853854;20525719;17159790;17273734;16697254;19154430;16630050;21075124;10720475;22051199;20224052;15838728;19471280;19716829;11692079;17022435;19252927 22986331;7516776;19527514;19479063;19415745;19343046;19339270;19336370;19330589;19307236;19287329;19181923;19177501;19162321;19131562;19111454;19074885;19064572;19019335;19017876;19012698;18992263;18992148;18990750;18978678;18836923;18818748;18816171;18784359;18768509;18680736;18676680;18642288;18636124;18632753;18619701;18571762;18569587;18550614;18513744;15150264;15138035;15061915;15036125;14988221;14984931;14751678;14719475;14681495;14669306;14642084;14634838;12935919;12915882;12854128;12798882;12760253;12747973;12717779;12670526;12631667;12605384;12552594;12496064;12491039;12477932;12419832;12397416;12376511;12359356;12234472;12173035;12160895;12141066;12121132;12085365;12029283;11967624;11940289;11859435;11849215;11813302;11809533;11758809;11751440;11597790;11551408;11535253;11520401;11489754;11480169;11471167;11440964;11375900;11255266;11191882;11124296;11058921;10965908;10828267;10066160;9925921;9255563;7920694;7892276;7835893;3502697;2891713;2864485;2758034;18495522;18461673;18423013;18406439;18394656;18383527;18298806;18258609;18200441;18093316;17996038;17908297;17896209;17885617;17767854;17695473;17690329;17686149;17611777;17608547;17590289;17588204;17548691;17548684;17532303;17526865;17498780;17449559;17416773;17416769;17412371;17380322;17365145;17363767;17212663;17203192;17167268;17164366;17082176;17078101;17048007;17035385;16985026;16926176;16710414;16614120;16614101;16598069;16585076;16538176;16535827;16456143;16369102;16357600;16201204;16147638;16125881;16043197;16039674;16029924;16006997;16005144;15938845;15928955;15924351;15901990;15900282;15894702;15817713;15774926;15746160;15734960;15719050;15716486;15714076;15702235;15692831;15668489;15654505;15640939;15640066;15618730;15582499;15536330;15535985;15531751;15489334;15488121;15466980;15465926;15355699;15352038;15298956;15280903;15256148;18510611;15199549;22788361;21228718;21254355;21183608;21480392;19913121;20568895;20602612;20628086;20634891;20637790;20659238;20689807;20716240;20731606;21593757;21228414;21302624;19170196;19364907;19528831;19575027;19589345;19593802;19620853;19625176;19657367;19692168;19736056;19751749;19754350;19789190;19794411;19898482;19933216;19952982;19956635;19958090;20091863;20095411;20200332;20233420;20375710;20379614;20403997;20437850;20453000;20461808;20516053;20886582;20140262;20842355;20847076;20878130;20935060;20951227;21044285;21057703;21228703;21445251;21192345;22156006;22939629;22555758;21649467;21598178;22118311;21734345;21841461;22928041;21309732;21883387;21139048;21890473;21906983;23564882;22524818;21110914;21983886;22103900;22188362;22447130;23378225;22352736;23055191;22994552;23000965;22257321;21453055;22053931 2052 B1AQP8;B1AQP9;B2R8N0;Q9NQV0 ABBA01009662;AC099066;AF253417;AF276626;AF276627;AF276628;AF276629;AF276630;AF276631;AF276632;AF276633;AF276634;AF276635;AF276636;AF276637;AF276638;AK313436;AL591895;AMYH01001774;AY948961;BC003567;BC008291;BC095430;BJ994650;CH471098;CR541963;J03518;KF032815;L25878;L25879;M36374;NG_009776;NM_000120;NM_001136018;U06661;U34722;X07936;X15459;Y00424 AAA52389;AAA52390;AAA59580;AAA61305;AAB60649;AAC41694;AAF87726;AAF87727;AAF87728;AAF87729;AAF87730;AAF87731;AAF87732;AAF87733;AAF87734;AAF87735;AAF87736;AAF87737;AAF87738;AAH03567;AAH08291;AAH95430;AAX81410;ABM83432;ABM86646;AGL94507;BAG36227;CAA30759;CAA68486;CAG46761;EAW69754;EAW69755;EAW69756;EAW69757;NP_000111;NP_001129490;P07099 Hs.89649 1675989;1788282;1852365;2114463;2126291;2130092;2133055;2152756;5023666 Ephx1;RH64688;RH80101;SHGC-76439;SHGC-76443;SHGC-76452;STS-R42498;STS-X07936;UniSTS:142997 EPHX;EPOX;HYL1;MEH OTTHUMP00000035867;epoxide hydratase;epoxide hydrolase 1 APPROVED protein-coding ENSG00000143819 3401 00581 132810;189800;607748 REVIEWED 731054 EPHX2 epoxide hydrolase 2, cytoplasmic This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 8 8 p21 27404562 27458403 + 27348519 27402439 + 1580978;1580979;1580981;1580982;1580985;1580986;1580863;1300048;5688730;5688726;5688731;5688391;5688354;5688356;5688357;5688358;5688359;5688360;6480464;5688362;5688727;5688387;5688389;5688733;5688363;5688386;5688390;5688728;6907045;7240710 16202848;16115816;16595607;14732757;16157792;16306811;19553349;20694143;19226702;22007192;22051199;21075124;20224052;19716829;19471280;19154430;18323494;20065888;16962614;16545818;21720266;18086949;17728042;11692079;21832210 12477932;18513744;18974052;10862610;19527514;19420105;19343046;19074885;19019335;18818748;18784359;18775727;18676680;18636124;18632753;18589104;18537101;18510611;18319271;18216721;18078836;17919073;17498780;17495027;17460077;16957870;16414022;15845398;15489334;15096040;14702039;14673705;14634838;12574508;12107410;8619856;8342951;8224376;7868134;7840649;6667124;6185139;3222228;2995393;2329521;1809223;1423213;1349227;21281786;19913121;20485444;20628086;21704394;18029348;20140262;20819778;20888937;21098312;16169070;19170196;19575027;19578796;19625176;19692168;19704161;19814804;19940276;20237496;20379614;22739108;21429967;22986331;23576437;21642892;22354938;22387545;23152298;16314446;21044950;12574510;15196990;20178365;21988832;23160182;23362272;23259602;22505724;22336502 2053 E5RFH6;E5RFU2;E5RI53;H0YAW7;Q9HBJ2 ABBA01005588;AF233334;AF233335;AF233336;AF311103;AK094393;AK096089;AK096770;AK294065;AK303904;AK308041;AK310507;AMYH01018598;BC007708;BC011628;BC013874;BQ272362;BT006885;BX103698;CA397329;CH471080;DC331720;EU584434;L05779;NG_012064;NM_001256482;NM_001256483;NM_001256484;NM_001979;X97024 AAA02756;AAG14966;AAG14967;AAG14968;AAH07708;AAH11628;AAH13874;AAP35531;ABM83675;ABM86963;ACD11487;BAG53210;BAG53362;BAG57410;BAG64834;CAA65751;EAW63547;EAW63548;EAW63549;EAW63550;EAW63551;NP_001243411;NP_001243412;NP_001243413;NP_001970;P34913 Hs.212088 1340147;1709210;1739357;2119586;2146180;2159433;7189467 D8S131;D8S1569E;D8S1839;SHGC-35790;SHGC-85787;STS-AA011480;STS-L05779 CEH;SEH OTTHUMP00000128312;OTTHUMP00000225243;OTTHUMP00000225244;OTTHUMP00000225245;OTTHUMP00000225246;bifunctional epoxide hydrolase 2;cytosolic epoxide hydrolase;epoxide hydratase;epoxide hydrolase 2;epoxide hydrolase 2, cytosolic;epoxide hydrolase, soluble;soluble epoxide hydrolase APPROVED protein-coding ENSG00000120915 3402 00582 132811;143890 REVIEWED 1353692 EPHB4 EPH receptor B4 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008] 7 7 q22 100238123 100263079 - 100400187 100425143 - 1580863;6480464;6484113 19272799;8152808;8831703;16322467;12493773;8188704;19366806;19356789;19035475;18957513;18593464;18340006;18231102;17611172;17510705;17353927;17234965;17196593;16982731;16867992;16840724;16615113;16424904;16343615;16205642;16171530;16107476;15951569;15930280;15722342;15489334;15358160;15193868;15126321;14764452;12734395;12690205;12477932;12235151;12051776;11929761;11920461;11466354;11256076;11239002;11136979;11128993;10730216;10518221;10207129;22684742;10037197;9718367;9576626;9530499;9267020;19552627;19597185;19664212;20002159;20031623;20061560;9388509;20133814;20686847;23138393;23100466;21047731;21832049;21575518;22024229;22528941;21906983;21935409;19322201;20086179;22374425;21987572;23063927;23314808;22990020;23079712 2050 P54760;Q541P7;Q7Z635;Q96L35 AB209644;ABBA01013178;ABBA01013179;ABBA01013180;ABBA01013181;AC011895;AF312032;AK301224;AMYH01017744;AY056047;AY056048;BC004264;BC052804;CB962032;CH236956;CH471091;EU826608;EU826609;EU826610;GM868979;NM_004444;U07695 AAA20598;AAH04264;AAH52804;AAK21010;AAL14194;AAL14195;ACF47644;ACF47645;ACF47646;BAD92881;BAG62797;CAT16953;EAL23820;EAW76468;EAW76469;EAW76470;NP_004435;P54760 Hs.437008 1669978;1795790;7187491 D7S2738;EPHB4_612 HTK;MYK1;TYRO11 OTTHUMP00000211367;OTTHUMP00000211368;ephrin receptor EphB4;ephrin type-B receptor 4;hepatoma transmembrane kinase;soluble EPHB4 variant 1;soluble EPHB4 variant 2;soluble EPHB4 variant 3;tyrosine-protein kinase TYRO11;tyrosine-protein kinase receptor HTK APPROVED protein-coding ENSG00000196411 3395 02481 600011 REVIEWED 6481022 EPN2-IT1 EPN2 intronic transcript 1 (non-protein coding) 17 19174706 19177701 + 100874309 ABBA01054612;AC106017;AMYH01008233;NR_046824 Hs.733657 miscrna 41445 PREDICTED 1316262 EPHX3 epoxide hydrolase 3 19 19 19 p13.12 15233387 15239517 - 15198730 15204231 - 15337730 15343858 - 1580863;6480464 17437806;16344560;15489334;15203218;14702039;12477932;20723587 79852 M0QX48;Q9H6B9 ABBA01051106;AC004257;AK026061;AMYH01009544;BC115002;BC132958;BC132960;CD632298;CH471106;DA378406;NM_001142886;NM_024794 AAI15003;AAI32959;AAI32961;BAB15342;EAW84467;EAW84468;NP_001136358;NP_079070;Q9H6B9 Hs.156457 ABHD9;FLJ22408;MGC131519 abhydrolase domain containing 9;abhydrolase domain-containing protein 9;epoxide hydrolase 3 protein-coding ENSG00000105131 23760 12410 VALIDATED 736258 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 6 6 q24 145988133 146098684 - 145946440 146056991 - 1299634;1580863;6480464;7240710 12958597 12915448;11001928;9931343;19267391;19171932;19036738;18617530;18311786;18070875;18029386;17646401;17509003;17337485;16971387;16959610;16901901;16115820;15489334;15009235;14722920;14706656;14702039;14643920;14532330;12782127;12560877;12477932;12019207;11883934;11739371;11735300;11220751;9345091;11175283;9771710;9222970;7485240;15930137;20738377;17908927;19403557;19529779;20534808;20453062;20301563;22815132;22036712;21728993;21930129;21652633;21887368;21371719;22047982;21505799;22578008;22364389 7957 B3EWF7;H0Y6I8;H0Y7S8;Q8IX25 ABBA01025726;ABBA01025727;AF084535;AF284580;AF454491;AF454492;AF454493;AF454494;AJ130763;AJ130764;AK022721;AK299497;AL023806;AL365193;AMYH01016727;AW291546;BC005286;BC070047;BI463677;CH471051;NG_012832;NM_001018041;NM_005670 AAC83347;AAG18377;AAH05286;AAH70047;AAO15523;AAO15524;AAO15525;AAO15526;B3EWF7;BAG51107;BAG61454;CAA10199;CAA10200;EAW47842;EAW47843;EAW47844;NP_001018051;NP_005661;O95278 Hs.486696 1336111;1645635;1674731;1694160;1699942;1704278;1704346;1715911;1754289;1757387;5017953;5022450 136C6sp6;AL035166;D10S275;D6S1443;D6S1703;RH103579;RH122690;SHGC-132306;SHGC-144778;SHGC-78150;SHGC-83278;WI-13634 EPM2;MELF LAFPTPase;OTTHUMP00000017360;OTTHUMP00000017361;epilepsy, progressive myoclonic epilepsy, type 2 gene alpha;epilepsy, progressive myoclonus type 2, Lafora disease (laforin);lafora PTPase;laforin APPROVED protein-coding ENSG00000112425 3413 06345 254780;607566 REVIEWED 1322182 EPM2AIP1 EPM2A (laforin) interacting protein 1 The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008] 3 3 3 p22.1 36970125 36977560 - 37004233 37009799 - 37027357 37034795 - 1580863;6480464 18095154;15489334;14702039;12958597;12782127;12692553;12477932;9872452;21206982;21139048;21890473;21987572 9852 Q7L775 AB018309;ABBA01024860;AC011816;AF059751;AF086312;AK002069;AMYH01013086;AY178832;BC012624;BC041957;BC064696;CH471055;NG_008418;NM_014805 AAG43120;AAH64696;AAO21376;ADZ15647;BAA34486;EAW64482;NP_055620;Q7L775 Hs.28020 1647231;1648205;1651725;1679742;1788326;1791294;1792302;1792304;1792306;1792308;1792310;1792312;1793564;1793566;1793568;2131927 G67469;PMC100312P1;PMC140684P3;PMC140684P4;PMC140684P5;PMC140684P6;PMC140684P7;PMC140684P8;PMC23037P1;PMC23037P2;PMC23037P3;RH78369;RH91326;SHGC-37166;SHGC-76812;WI-14054 FLJ11207;KIAA0766 EPM2A interacting protein 1;EPM2A-interacting protein 1;laforin-interacting protein APPROVED protein-coding ENSG00000178567 19735 07445 607911 REVIEWED 6481363 EPN2-AS1 EPN2 antisense RNA 1 17 19199909 19209574 - 10737800;12477932 100874018 ABBA01054612;AC124066;AMYH01008233;BC037786;BG705989;CV325757;NR_048576 Hs.621672 APPROVED miscrna ENSG00000235397 40849 VALIDATED 5013870 EPPIN-WFDC6 EPPIN-WFDC6 readthrough This locus represents naturally occurring read-through transcription between the neighboring SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) and WFDC6 (WAP four-disulfide core domain 6) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 20 q 44164919 44176065 - 20967262 100526773 O95925 AA626362;ABBA01052660;AK301937;AL031663;AMYH01011937;NM_001198986 BAG63357;CAO03536;NP_001185915 Hs.121084;Hs.274876 FLJ58958;SPINLW1-WFDC6 OTTHUMP00000220361;SPINLW1-WFDC6 fusion protein;SPINLW1-WFDC6 read-through transcript;SPINLW1-WFDC6 readthrough APPROVED protein-coding ENSG00000249139 38825 VALIDATED 1351510 EPN2 epsin 2 This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16598294 16653109 + 19081283 19180621 + 19140690 19240028 + 708327;1580863;6480464;6907045 10567358 17081983;16344560;15345747;15324660;15231748;14702039;12750376;12477932;12353027;10470851;9813051;9303539;19285159;20379614;21163940;21139048;21906983;22558309;18199683;22174317 22905 E7EMC3;E9PBC1;F6PQP6;I3L2B2;I3L2H1;I3L356;J3KSA6;J3KSC7;J3KSF8;J3KSR0;J3KTF6;J3QKL8;J3QLN2;J3QQJ8;J3QRG9;O95208 AB028988;ABBA01054611;ABBA01054612;ABBA01054613;AC106017;AC124066;AF062084;AF062085;AK001491;AK001996;AK024115;AK092366;AK295652;AK298006;AK307455;AMYH01008211;AMYH01008212;AMYH01008213;AMYH01008214;AMYH01008215;AMYH01008216;AMYH01008217;AMYH01008218;AMYH01008219;AMYH01008220;AMYH01008221;AMYH01008222;AMYH01008223;AMYH01008224;AMYH01008225;AMYH01008226;AMYH01008227;AMYH01008228;AMYH01008229;AMYH01008230;AMYH01008231;AMYH01008232;AMYH01008233;BC015488;BC051793;BC070036;BC093972;BC093974;BC143263;BC143264;CH471212;DA220261;DC316524;NM_001102664;NM_014964;NM_148921 AAC78608;AAC78609;AAH70036;AAH93972;AAH93974;AAI43265;BAA83017;BAB14831;BAG50925;BAG51000;BAG52540;BAH12141;BAH12703;EAW50875;EAW50876;EAW50877;NP_001096134;NP_055779;NP_683723;O95208 Hs.743983 1675840;2108759;2165478;2176567 D17S1768;EPN2__7600;RH76524;STS-W72824 EHB21;KIAA1065 EPS-15-interacting protein 2;Eps15 binding protein;OTTHUMP00000065808;OTTHUMP00000065809;OTTHUMP00000065810;OTTHUMP00000065811;OTTHUMP00000065889;epsin-2 APPROVED protein-coding ENSG00000072134 18639 06271 607263 REVIEWED 1343625 EPPK1 epiplakin 1 8 8 8 q24.3 141252725 141261566 - 145012206 145019422 - 144939912 144947434 - 1580863;6480464 17353931;17081983;16565220;16083285;15671067;14708632;12791695;12665801;12577067;11278896;8618051;21145461;16159877;21182205;22939629;16009940;19471022;21139048;21800051;21890473;21906983;21987572;22586326;21963094;22053931;22190034 83481 E9PPU0;P58107 AB051895;AB107036;ABBA01005238;AC105049;AC109322;AC234917;AL137725;AMYH01019119;CH471162;CS673558;CS690941;FB665694;GM706906;NM_031308 BAB40803;BAC92750;CAB70895;CAP07546;CAP11514;CAR97129;CAT82413;EAW82176;NP_112598;P58107 Hs.743673 1848374 D8S2104 EPIPL;EPIPL1 450 kDa epidermal antigen;epidermal autoantigen 450K;epiplakin protein-coding 15577 06500 607553 VALIDATED 1342807 EPN1 epsin 1 The protein encoded by this gene binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 19 19 q13.42 60878404 60898945 + 56186561 56207133 + 632727;6480464;6907045 9723620 10567358;12218189;15962011;19054389;17081983;16903783;16344560;15694383;15489334;14702039;12836669;12477932;12353027;11382783;10791968;10764745;10692452;10557078;16169070;12775724;15809337;19285159;16574660;12057195;15231748;16885233;19704019;9422736;16497223;15701692;23187125;23314748;19478092;22939629;22863883;19240029;21226813;21965661;22658936;20639865;21139048;21890473;21906983;21963094;21987572;16429130;16497222;18199683;20573067;21115825;19738201;22623428;23000965;23377640;12538641;18375383;22053931 29924 K7EMP4;Q9Y6I3 ABBA01020860;AC008735;AC010525;AF073727;AK022454;AK300545;AK314690;AMYH01010007;BC044651;BU634413;CH471135;DA657018;NM_001130071;NM_001130072;NM_013333 AAD38326;AAH44651;ADR82675;BAB14041;BAG62253;EAW72405;EAW72406;EAW72407;EAW72408;NP_001123543;NP_001123544;NP_037465;Q9Y6I3 Hs.279953 1678451;2108623 RH92186;U2AF2_7999 EH domain-binding mitotic phosphoprotein;EPS-15-interacting protein 1;epsin-1 APPROVED protein-coding ENSG00000063245 21604 06270 607262 REVIEWED 1315016 EPN3 epsin 3 17 17 17 q21.33 45071411 45082475 + 45965047 45976110 + 48610048 48621111 + 1580863;6480464;6907045 16344560;15489334;15231748;14702039;12477932;11359770;10951261;8889548;21906983;21115825 55040 B4DIQ9;D6R907;D6RBA4;D6RBI9;D6RBR6;D6REL6;D6RF39;D6RFG3;F6QWW5;I6L9I8;Q9H201 ABBA01041240;AC021491;AF324241;AK000785;AK291658;AK292977;AK295730;AK296346;AK300642;AMYH01008473;BC001038;BC051365;BC077722;BC110602;BC110605;BM981734;BU539570;CA944655;CH471109;DA392550;DC388544;NM_017957 AAG45223;AAI10603;AAI10606;BAA91378;BAF84347;BAF85666;BAG58571;BAG59030;BAG62331;EAW94606;EAW94607;NP_060427;Q9H201 Hs.670090 1700514;1750977 RH103878;SHGC-104919 FLJ20778;MGC129899 EPS-15-interacting protein 3;OTTHUMP00000221407;OTTHUMP00000221409;OTTHUMP00000221412;epsin-3 protein-coding ENSG00000049283 18235 06272 607264 VALIDATED 735849 EPO erythropoietin This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety of potential brain injuries and antiapoptotic functions in several tissue types. [provided by RefSeq, Jul 2008] 7 7 q22 100156359 100159259 + 100318423 100321323 + 1580863;2313831;2313832;2313833;2313837;2313839;2313840;2313841;2313843;2313896;2313897;2313842;2313890;2313834;2313835;2313838;6480464;6484113;6907045;7240710 19826948;19619913;19356735;18670462;17435269;16936148;16921186;16681558;15855576;15502930;16911620;18235022;19244253;19211168;18458324 17353931;3838366;9722506;19463769;19375648;19375647;19339771;19321698;19165176;19074769;19042077;19027957;19014520;18922618;18787502;18722069;18586515;18544472;18479804;18414140;18356745;18332162;18278456;18276585;18259195;18219110;18201556;18189270;18160550;18093155;18091448;18086112;18074690;17984928;17952604;17893875;17893874;17888545;17873970;17713555;17652365;17647284;17645631;17636183;17615151;17597020;17577097;17540710;17481772;17467346;17395782;17389738;17372034;17360900;17145806;17081058;17045782;16909043;16883594;16838166;16699298;16684536;16645141;16627979;16475009;16467207;16332412;16286456;16278379;16229477;16123502;15993382;15988318;15967106;15856028;15795697;15777837;15769989;15743794;15728783;15718359;15709172;15709164;15705187;15671524;15627795;15590452;15489334;15467711;15389732;15363820;15347669;15339684;15257091;15240563;15210945;15205261;15183662;15160341;15142852;15112358;15053948;15019812;14990112;14755373;14747752;14724429;14718663;14704034;14671634;14584755;14583613;12975460;12960323;12937140;12853948;12829027;12801298;12759237;12734640;12525458;12482504;12477950;12477932;12476588;12463751;12419827;12381912;12362243;12239177;12212844;12207089;12192960;12187026;12171772;12130665;12091337;12082184;12068288;11994541;11920206;11919332;11906322;11906321;11869305;11865075;11861258;11854521;11493922;11305874;11259643;11239002;10984541;10318834;9847074;9808045;9799793;9774108;9539790;8396923;6698989;3949763;3865178;3462737;3462706;3346214;3219367;2875851;2849206;23180434;1820196;20179983;20395592;15073510;11782478;9113979;15674338;19890342;20228410;19913121;20566589;20628086;19070519;17442163;20873225;20947680;20353997;20804540;21033220;20729740;19269703;19955699;21067572;21078205;17327410;18399174;19136057;19515792;19602911;19690392;19766721;19804771;19862010;19901910;19930602;19932158;20012656;20065225;20091055;20104680;20164027;20237496;20979939;20937240;21619451;21912616;18533563;20368990;20614229;21042786;14569084;21092038;18928604;21294852;21734083;20862521;22669473;23028796;21406725;20966191;21334436;20937006;21623073;21757714;21839094;21321940;23227493;21317243;21535154;22768976;21162115;21683736;22025882;21898543;21926963;21847101;22351476;22388478;22406924;21807323;22135724;22545469;22167324;22021095;21894032;21912181;22623897;22843933;23027039;21988832;23142458;23242184;23128233;23142128;23158995;20818790;22626952;23141213;23327923;23016887;22773876 2056 G9JKG7;P01588 ABBA01013188;AC009488;AF202308;AF202311;AF202314;AMYH01017741;BC093628;BC111937;BC143225;CH471091;JN849371;M11319;NG_021471;NM_000799;S65458;X02157;X02158 AAA52400;AAD13964;AAF17572;AAF23132;AAF23134;AAH93628;AAI11938;AAI43226;AAP22357;AEU17862;CAA26094;CAA26095;EAW76493;EAW76494;NP_000790;P01588 Hs.2303 1741153;1790337;2135064 EPO;GDB:178386;SHGC-12325 EP;MGC138142;MVCD2 OTTHUMP00000201234;epoetin;erythropoietin APPROVED protein-coding ENSG00000130427 3415 00586 133170;612623 REVIEWED 736105 EPOR erythropoietin receptor This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 19 19 p13.3-p13.2 11349475 11356019 - 11487881 11495018 - 1580863;6480464;6484113;6907045;7240710 2163696;11781573;15644415;19167335;1668606;1848667;19464057;19375647;19336760;19264915;19218878;19133231;19010836;18818706;18492694;18479804;18424770;18349818;18332162;18278456;18250608;18158285;18059484;18006699;17995455;17922127;17912463;17893874;17647284;17637760;17597020;17524492;17488692;17483696;10984541;10882725;10660611;10455108;10388848;10374881;10318834;10084959;9974392;9852052;9808074;9808045;9793257;9774439;9774108;9649565;9573010;9488636;9371269;9334184;9292543;9192789;9162069;8977232;8861946;8662939;11124255;11000476;8662530;8647802;8639815;8608241;8506290;8400282;8343951;8174675;7889566;7796808;7795221;7651724;7559499;7534299;17363704;17293480;17145806;17110616;17038666;16982687;16699298;16627979;16608505;16278379;16161153;16084495;15953601;15878737;15777837;15769989;15709172;15709164;15671524;15657048;15572213;15489334;15480420;15467711;15358619;15329338;15249201;15205261;15160341;14982882;14584755;12960323;12878211;12746455;12538595;12525458;12488507;12477932;12441334;12118093;12113907;12027890;12021194;11999556;11994541;11884148;11784712;11782306;11779507;11756159;11722595;11443118;11305874;21437635;2163695;1668607;1664413;1657727;1654273;1324524;1310150;9344843;20169072;19070519;16961462;20336349;20700488;17327410;18184464;19298633;19515792;19536148;19544471;19655412;19779103;19836979;19930602;19965681;20124513;20124514;20164027;20337434;7528577;20861249;20884294;20614229;22982397;22669473;22639817;23028796;19099624;20947680;21291419;21360263;21623073;23314808;22025882;22093990;21749867;21900195;21075308;23158995;22227182;22384088;22406924;22509308;22552716;9129019;22338178;21860424;22253704;23117856 2057 K7EN47;K7EP50;K7ERB5;P19235 ABBA01029859;AC024575;AK315097;AMYH01009483;BC019092;BC112153;BC143697;BC143698;BC143700;BU619338;CH471106;M34986;M60459;M76595;M77244;NG_021395;NM_000121;NR_033663;S45332;X57282;X97671 AAA52392;AAA52393;AAA52401;AAA52403;AAB23271;AAI12154;BAG37561;CAA40550;CAA66260;EAW84205;EAW84206;EAW84207;EAW84208;NP_000112;P19235 Hs.631624 1672746;1678383;1742443;1743057;1743059;1743115;1743821;1773354;2145250 D19S1015;GDB:196998;GDB:250953;GDB:250955;GDB:266625;GDB:374131;RH17696;RH70840;RH71284 EPO-R;MGC138358 erythropoietin receptor APPROVED protein-coding ENSG00000187266 3416 00587 133100;133171 REVIEWED 1348027 EPS15P1 epidermal growth factor receptor pathway substrate 15 pseudogene 1 7 7 7 p12.3 46921726 46923156 + 46821588 46823018 + 46821488 46823118 + 6480464 23251661 55380 AACC02000092;ABBA01058264;AC073275;AMYH01017225;CH236958;CH471128;NG_008280 AAQ93366;EAW61021 EPS15L2;PRO1866 APPROVED pseudo 18166 INFERRED 1315316 EPPIN epididymal peptidase inhibitor This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. [provided by RefSeq, Nov 2010] 20 20 q13.12 43602679 43609442 - 44169265 44176065 - 1580863 18645681;18331357;15590901;15489334;15229136;12909348;12477932;12206714;11780052;11404006;17207965;19801569;20158997;20488803;19889947;17566290;17567961;17644992;17928628;18466682;20005859;20505168;20800364;21461566;21392882;22699487 57119 B7ZBA9;O95925 ABBA01052660;AF286368;AF286369;AF286370;AK126022;AK311906;AL031663;AL118493;AMYH01011937;BC003675;BC044829;BC053369;CH471077;DC395362;NM_020398 AAG00546;AAG00547;AAG00548;AAH03675;AAH44829;AAH53369;ADQ32986;BAG34847;BAG54278;CAB37635;CAB56343;EAW75831;EAW75832;NP_065131;O95925 Hs.121084 CT71;CT72;EPPIN1;EPPIN2;EPPIN3;SPINLW1;WAP7;WFDC7;dJ461P17.2 CT71;OTTHUMP00000031137;OTTHUMP00000031138;WAP four-disulfide core domain 7;WAP four-disulfide core domain protein 7;cancer/testis antigen 71;cancer/testis antigen 72;epididymal protease inhibitor;protease inhibitor WAP7;serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin);serine protease inhibitor-like with Kunitz and WAP domains 1;serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin) APPROVED protein-coding ENSG00000101448 15932 10615 609031 REVIEWED 1347671 EPR1 effector cell peptidase receptor 1 (non-protein coding) This locus represents an antisense transcript of the survivin locus. [provided by RefSeq] 17 17 17 q25 72806350 72816811 - 73721916 73732378 - 76210321 76220783 - 1580863 16341674;15112339;12477932;12441269;11686347;10891443;9556606;8106347;7947793;7615156;9079657;16334252 8475 AC087645;AF086186;BC001735;BM839824;NR_002219 Hs.514527;Hs.728893 1795222 BIRC5_44 BIRC5-AS1;BIRC5AS;BIRC5OS;EPR-1;NCRNA00007 miscrna 3417 PROVISIONAL 1322145 EPRS glutamyl-prolyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008] 1 1 q41 218208565 218286623 - 220141942 220220000 - 1580863;6480464;6907045 17353931;8188258;19647514;18374644;16964243;15994936;15479637;15302935;12477932;11123902;10913161;9878398;9556618;8889549;3290852;2227938;1988429;1756734;1651330;1556743;9537509;16169070;11829477;11714285;16055448;20379614;8052601;8078941;8449960;9278442;16055720;21220307;21145461;21319273;22863883;22939629;16196087;19135240;20972266;21139048;21890473;21906983;18457437;18781797;21081666;21900206;21987572;22118674;21628590;22751010;19471022;22386318;22190034 2058 Q86X73 AA196283;ABBA01048085;ABBA01048086;AC103590;AK296755;AK298192;AK307534;AMYH01001741;AY493416;BC015494;BC034797;BC046156;BC058921;BC067841;BC105983;BC126275;BC136465;CH471100;CR933648;JQ080075;N85252;NM_004446;X07466;X54326;X72396;X72397;X72398;X72399;X72400;X72401;X72402;X72403;X72404;X72405;X72406;X72407;X72408;X72409;X72410;X72411;X72412;X72413;X72414;X72415;X72416;X72417;X72418;X72419;X72420;X72421 AAH15494;AAH34797;AAH46156;AAH58921;AAI05984;AAI26276;AAI36466;AAS72877;AFA28127;BAG59337;BAG60462;CAA30354;CAA38224;CAI45949;EAW93309;EAW93310;NP_004437;P07814 Hs.497788 1665885;1691998;1696434;1760425;1778696;2127140;2127142;2138598 AL033652;G34812;G34844;HUM000S513;RH70835;SHGC-11953;SHGC-142608;SHGC-79732 DKFZp313B047;EARS;GLUPRORS;PARS;PIG32;QARS;QPRS OTTHUMP00000035562;bifunctional aminoacyl-tRNA synthetase;bifunctional glutamate/proline--tRNA ligase;cell proliferation-inducing gene 32 protein;glutamate tRNA ligase;glutamatyl-prolyl-tRNA synthetase;glutaminyl-tRNA synthetase;proliferation-inducing gene 32 protein;proliferation-inducing protein 32;proline tRNA ligase;proline-tRNA ligase;prolyl-tRNA synthetase APPROVED protein-coding ENSG00000136628 3418 00703 138295 REVIEWED 1322450 EPS8L1 EPS8-like 1 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 52627181 52639321 + 60279033 60291103 + 55587221 55599291 + 6480464 16344560;15498874;15489334;14702039;14565974;12620401;12477932;10514543;21044950 54869 B4DKV7;K7EKX9;K7ELW3;K7EN83;Q8TE68 ABBA01068128;AC005782;AC011476;AF282167;AF282168;AF370395;AK000265;AK057052;AK075098;AK296732;AK301615;AK309305;AK309908;AMYH01009981;AY074928;BC004907;BC015763;CH471135;DA452167;DB018703;NM_017729;NM_133180 AAG03038;AAG03039;AAH04907;AAH15763;AAL76117;AAQ15231;BAA91041;BAC11399;BAG51855;BAG59319;BAG63100;EAW72328;EAW72329;EAW72330;EAW72331;NP_060199;NP_573441;Q8TE68 Hs.438862 2109287 EPS8L1_9838 DRC3;EPS8R1;FLJ20258;MGC23164;MGC4642;PP10566 EPS8-like protein 1;EPS8-related protein 1;epidermal growth factor receptor kinase substrate 8-like protein 1;epidermal growth factor receptor pathway substrate 8-related protein 1 APPROVED protein-coding ENSG00000131037 21295 13276 614987 REVIEWED 1321587 EPS8 epidermal growth factor receptor pathway substrate 8 This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 p12.3 15664342 15833601 - 15773075 15942510 - 1580863;6480464;6484113 19008210;9303002;8084614;9010225;15289329;18029348;19528316;19116338;18464913;17537571;17115031;17081983;16618726;15489334;15273867;12477932;12127568;11524436;11185075;11099046;10581192;10499589;10395945;8700527;8404850;7791787;7566980;7537362;7532293;1049958;14565974;16189514;18566210;16169070;8700515;22683923;20677014;20418908;12606711;16688213;19448673;20184880;20351091;21118970;11408594;22990118;21357683;23314863;22897151;22876043;21814501;21900206;21906983;22493489;17110338;21988832;23229386;11487543;23667531 2059 B4DX66;B4E3T6;F5GYM8;F5H0R8;F5H1B5;F5H2B8;F5H3Q6;F5H714;H0YFG1;Q12929 ABBA01067892;ABBA01067893;ABBA01067894;ABBA01067895;AC073651;AC092753;AI219284;AI377466;AK291777;AK292931;AK301834;AK304860;AK316134;AK316239;AMYH01004304;BC005836;BC030010;BI667617;CH471094;NM_004447;U12535 AAA62280;AAH30010;BAF84466;BAF85620;BAG63278;BAG65598;BAH14505;BAH14610;EAW96354;EAW96355;NP_004438;Q12929 Hs.591160 1652676;1743327;1754079;1766069;1855273;2137003;2137232;2176026 GDB:314933;RH44788;RH70563;SHGC-12935;SHGC-132117;SHGC-149452;WI-12658;WI-14029 OTTHUMP00000239466;OTTHUMP00000239467;OTTHUMP00000239468;epidermal growth factor receptor kinase substrate 8 APPROVED protein-coding ENSG00000151491 3420 02563 600206 REVIEWED 1322090 EPS8L2 EPS8-like 2 This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008] 11 11 11 p15.5 777933 796226 + 696120 717727 + 706120 727727 + 6480464 16083285;15498874;15489334;14702039;14565974;12620401;12477932;8125298;21832049;18029348;21900206 64787 B7ZKL3;E9PLH1;E9PLN2;E9PM34;E9PN68;E9PNT0;E9PNY4;H0YD62;H0YF37;Q9H6S3 ABBA01015201;ABBA01015202;ABBA01015203;ABBA01015204;ABBA01015205;AF318331;AK025588;AK025824;AK027765;AK094539;AK122903;AK122984;AK222903;AK225311;AK294041;AMYH01003291;AMYH01003292;AMYH01003293;AMYH01003294;AP006621;AY074929;BC002474;BC080636;BC093878;BC101481;BC143242;CH471158;NM_022772 AAH80636;AAH93878;AAI01482;AAI43243;AAL55838;AAL76118;BAB15180;BAB15248;BAB55354;BAD96623;BAG52883;BAG57393;EAX02375;EAX02376;NP_073609;Q9H6S3 Hs.55016 1681576;1685870;5119727 GDB:180955;RH48240;RH94040 EPS8R2;FLJ16738;FLJ21935;FLJ22171;MGC126530;MGC3088 EPS8-like protein 2;EPS8-related protein 2;OTTHUMP00000228716;OTTHUMP00000228717;OTTHUMP00000228719;OTTHUMP00000229619;epidermal growth factor receptor kinase substrate 8-like protein 2;epidermal growth factor receptor pathway substrate 8-related protein 2 APPROVED protein-coding ENSG00000177106 21296 10940 614988 REVIEWED 1345399 EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 19 19 19 p13.11 16374285 16484628 - 16333408 16443762 - 16466055 16582823 - 1580863;6480464 10567358;12218189;15962011;17081983;16964243;16903783;15302935;15144186;14702039;12477932;11777906;11381094;10906484;10613896;9853615;9723620;9446614;9407958;9303539;22558309;16159959;16497223;12072436;22863883;16344560;22190364;8889548;20360068;21139048;21890473;21906983;21987572;20448150;21706016;21963094;23000965;23218918;20697350;22505724 58513 K7EJR2;M0QX30;M0QY01;M0R165;M0R1V5;M0R2S2;M0R330;M0R3I1;Q9UBC2 AB015346;ABBA01051145;ABBA01051146;ABBA01051147;AC008764;AC020917;AF110265;AK023744;AK024166;AK025770;AK291359;AK296473;AK297428;AK299001;AL110270;AMYH01009562;AU121887;BC037558;BC051873;BC067114;BC131590;BC142662;BC142716;BU075732;CA311813;CA446537;CH471106;DC416977;NM_001258374;NM_001258375;NM_001258376;NM_021235;NR_047665;NR_047666 AAF21930;AAI31591;AAI42663;AAI42717;BAA88118;BAF84048;BAG51266;BAG59115;BAG59856;BAG61087;CAH10724;EAW84542;EAW84543;EAW84544;EAW84545;NP_001245303;NP_001245304;NP_001245305;NP_067058;Q9UBC2 Hs.654639;Hs.744842 1686658;2139164;2191201 MARC_16107-16108:1018030388:1;RH36023;RH47699 EPS15R epidermal growth factor receptor substrate 15-like 1;epidermal growth factor receptor substrate EPS15R;eps15-related protein protein-coding ENSG00000127527 24634 09445 VALIDATED 1313642 EPS15 epidermal growth factor receptor pathway substrate 15 This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009] 1 1 p32 51592523 51757583 - 51819935 51984995 - 1580863;6480464;6484113;6907045 10613896;17474147;8183552;9762922;10567358;12218189;15962011;15465819;19109251;18395097;18362181;17626015;17081983;16964243;16710414;16429130;16344560;16325581;16159959;16036216;15951569;15767409;15231748;14755250;14702039;14671106;12807910;12551915;12477932;12072436;11919637;11872741;11723124;11483962;11381094;11062555;10953014;10922467;10809762;10791968;10757979;10514494;10393179;10383425;10064583;9723620;9721102;9490719;9428629;9407139;9303539;9182572;9110174;9049247;8889548;8662907;8662627;8619474;8134107;7797522;12364336;12429846;10777571;19240029;19835873;19880507;20360068;21226813;21554242;21832070;20634891;16497223;16735510;16771824;16862145;16885233;17082820;17588522;18029348;19875440;20106972;15701692;12750381;12957285;15809337;22863883;9162018;19478092;17013377;12938929;21139048;21762413;21890473;21906983;21987572;16497222;18199683;19322201;21115825;19013454;22558309;22036096;10764745;12538641;15772161;23222715;19380743;22505724 2060 A6NL94;B1AUU8;B7Z240;H7BYP0;P42566 AA789139;ABBA01074801;ABBA01074802;ABBA01074803;ABBA01074804;AC104170;AF052132;AK090936;AK129853;AK294297;AK308128;AK313396;AL671986;AMYH01000614;AMYH01000615;AW949896;BC054006;BM681433;BX647676;CD657119;CH471059;DA801048;DQ367924;FB342945;FB711068;NM_001159969;NM_001981;U07707;Z29064 AAA52101;AAH54006;ABD34786;BAG36194;BAG52249;BAH11726;CAA82305;CAR81473;CAS91489;EAX06822;EAX06823;EAX06824;NP_001153441;NP_001972;P42566 Hs.83722 1649634;1659593;1661147;1665341;1670933;1689578;1692198;1749577;1769631;1769753;1781752;1857283;2123659;2123693;2125129;2186709 A006V07;AL009788;AL033736;D1S3566;G07235;RH70977;RH80074;SHGC-111272;SHGC-155448;SHGC-37192;SHGC-74762;SHGC-74806;SHGC-74807;SHGC-74808;SHGC-74809;SHGC-74820 AF-1P;AF1P;MLLT5 ALL1 fused gene from chromosome 1;OTTHUMP00000009896;OTTHUMP00000009897;epidermal growth factor receptor substrate 15;protein AF-1p APPROVED protein-coding ENSG00000085832 3419 08968 600051 REVIEWED 1318007 EPS8L3 EPS8-like 3 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108539315 108553178 - 110094225 110108087 - 110292702 110306644 - 6480464 16710414;15489334;14702039;14565974;12620401;12477932;8125298;19807924;10737800;16341674;16344560;16712791;17124247;23099647 79574 A8K2J6;Q8TE67 ABBA01068382;AK025175;AK225235;AK290261;AK292198;AK307932;AK308196;AK310979;AL158847;AMYH01000940;AW937714;AY074930;BC012926;BM737806;BM797626;BM824107;BP419077;CB159338;CH471122;DA927692;NM_024526;NM_133181;NM_139053 AAH12926;AAL76119;BAB15081;BAF82950;BAF84887;EAW56410;EAW56411;EAW56412;EAW56413;EAW56414;EAW56415;NP_078802;NP_573444;NP_620641;Q8TE67 Hs.485352 1337381;1729754;2169719;7186149 D11S866;D1S221;SHGC-32779 EPS8R3;FLJ21522;MGC16817 EPS8-like protein 3;EPS8-related protein 3;OTTHUMP00000013373;OTTHUMP00000013374;OTTHUMP00000013375;epidermal growth factor receptor kinase substrate 8-like protein 3;epidermal growth factor receptor pathway substrate 8-related protein 3 APPROVED protein-coding ENSG00000198758 21297 13277 614989 REVIEWED 1353297 EPSTI1 epithelial stromal interaction 1 (breast) 13 13 13 q13.3 24519978 24622563 - 42360122 42464377 - 43460524 43566407 - 6480464 12477932;11991720;7566098;21145461;20133812;15342556;16344560;23251661 94240 F5H4H1;F5H799;Q96J88 AA372477;ABBA01021248;AF396928;AK292461;AK313877;AL137878;AL445217;AL831953;AMYH01005077;BC023660;BP228419;BU603558;CH471075;CQ834892;DA940572;NM_001002264;NM_033255 AAH23660;AAK73753;ABM83194;ABM86395;BAF85150;CAD38599;CAH05661;EAX08684;EAX08685;EAX08686;NP_001002264;NP_150280;Q96J88 Hs.546467 1335870;1653064;1690952;1699508;1701486;1779226;1788194;2130482 D13S1227;D13S1688;G67436;RH103348;RH104375;RH99288;SHGC-150888;SHGC-16187 BRESI1;MGC29634 OTTHUMP00000018331;OTTHUMP00000178586;OTTHUMP00000239084;epithelial stromal interaction protein 1;epithelial-stromal interaction protein 1 protein-coding ENSG00000133106 16465 06309 607441 VALIDATED 1342522 EQTN equatorin, sperm acrosome associated 9 9 9 p21 27212799 27225283 - 27274667 27287137 - 27284652 27297137 - 16831425;12477932;11118625;20801718;20379614 54586 Q9NQ60 ABBA01065130;AJ278482;AL133411;AMYH01019295;BC014307;BC137351;BC137352;BC144602;BX089774;CH471071;CS072268;NM_001161585;NM_020641 AAH14307;AAI37352;AAI37353;AAI44603;CAC00687;CAI93406;EAW58566;EAW58567;EAW58568;NP_001155057;NP_065692;Q9NQ60 Hs.163070 AFAF;C9orf11;SPACA8;equatorin OTTHUMP00000022786;acrosome formation associated factor;acrosome formation-associated factor;equatorin;sperm acrosome associated 8 APPROVED protein-coding ENSG00000120160 1359 12932 VALIDATED 1323569 EPX eosinophil peroxidase This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded precursor protein is processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a cluster of three peroxidase genes at chromosome 17q23. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Sep 2009] 17 17 q23.1 53625088 53636783 + 56270089 56282535 + 1580863;6480464;6907045 10386597;17474147;19014520;18694936;16336215;15894800;15316147;14657871;12540536;12477932;11076863;10971470;10828600;10358043;7809065;2550461;2541222;22702502;20501663;19439985;20237496;20453000;21454806;22750539 8288 P11678 ABBA01041328;AC005962;AJ705406;AL597635;AMYH01008511;BM147889;CH471109;DQ054598;M29904;M29913;NG_013020;NM_000502;X14346 AAA58458;AAI11603;AAY43126;CAA32530;EAW94479;EAW94480;NP_000493;P11678 Hs.279259 1651323;1691720 G42205;WI-11807 EPO;EPP;EPX-PEN eosinophil peroxidase APPROVED protein-coding ENSG00000121053 3423 00576 131399;261500 REVIEWED 1314212 EPYC epiphycan Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008] 12 12 12 q21 91028588 91069952 - 89881591 89922934 - 91357456 91398803 - 1580863;6480464 8975717;17558846;16902402;15489334;12477932;10330124;19616852;19844586;20357198 1833 F8VSI4;Q99645 ABBA01053409;AC078873;AF031658;AK290642;AMYH01004652;BC030958;BQ007792;CH471054;NM_004950;U59111 AAC50945;AAH30958;ADR82703;BAF83331;EAW97444;EAW97445;EAW97446;EAW97447;NP_004941;Q99645 Hs.435680 1794078;1794080;1794082;2142441 PMC310783P1;PMC310783P2;PMC310783P3;STS-N22463 DSPG3;PGLB;Pg-Lb;SLRR3B OTTHUMP00000242886;OTTHUMP00000242887;dermatan sulfate proteoglycan 3;epiphycan;epiphycan proteoglycan;proteoglycan-lb;small chondroitin/dermatan sulfate proteoglycan APPROVED protein-coding ENSG00000083782 3053 15988 601657 REVIEWED 1604559 EPT1 ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 26412508 26462300 + 26422458 26472263 + 26568954 26618759 + 6480464;6907045 18665829;17132865;16344560;16189514;14702039;12775843;12477932;11214970;21697133;19322201;21139048;21890473 85465 C9JAG1;C9JEZ2;Q9C0D9 AB051511;AB621826;ABBA01045182;AC010896;AK023242;AK091340;AK092710;AK095620;AMYH01010191;AMYH01010192;BC021229;BE963795;BF669898;BK001426;CH471053;DA619246;DA905145;EH350337;NM_033505 AAH21229;AAY14646;BAB21815;BAK64161;DAA01514;EAX00690;EAX00691;EAX00692;EAX00693;NP_277040;Q9C0D9 Hs.189073 1682407;1697420;1703262;1772262 A003B32;RH102210;RH98632;SHGC-24366 KIAA1724;SELI;SEPI OTTHUMP00000200812;OTTHUMP00000200814;ethanolaminephosphotransferase 1;ethanolaminephosphotransferase1;hEPT1;selenoprotein I APPROVED protein-coding ENSG00000138018 29361 07616 607915 REVIEWED 1605959 ERAP2 endoplasmic reticulum aminopeptidase 2 Aminopeptidases hydrolyze N-terminal amino acids of proteins or peptide substrates. Major histocompatibility complex (MHC) class I molecules rely on aminopeptidases such as ERAP1 (MIM 606832) and LRAP to trim precursors to antigenic peptides in the endoplasmic reticulum (ER) following cleavage in the cytoplasm by tripeptidyl peptidase II (TPP2; MIM 190470) (Tanioka et al., 2003 [PubMed 12799365]).[supplied by OMIM, Mar 2008] 5 5 q15 96241024 96279397 + 96211644 96255407 + 6480464 21299892;12477932;12799365;15691326;19433412;18393273;18369178;17129607;16585582;16344560;16054015;15908954;22505422;22837489;11752456;11481040;20595269;19578876;20103633;20843824;21102463;20419298;20976248;21569342;21314638;21719416;23545452;22106953;23128233 64167 B2R769;D6RF46;D6RGW0;H0Y9X9;H0YAL8;Q6P179 AB109031;AB163917;ABBA01069226;ABBA01069227;ABBA01069228;ABBA01069229;AC008850;AC009126;AF191545;AK074213;AK074281;AK074387;AK312864;AMYH01015491;AV688559;AY028805;BC017927;BC065240;BU430967;CH471084;DA990479;DB159802;NM_001130140;NM_022350 AAG28383;AAH17927;AAH65240;AAK37776;BAC78818;BAD90015;BAG35716;EAW96080;EAW96081;EAW96082;NP_001123612;NP_071745;Q6P179 Hs.482910 1697644;1697740;1790267;2107279;5021872 KS618;LRAP__7431;RH102337;RH102392;sY3084 FLJ23633;FLJ23701;FLJ23807;L-RAP;LRAP OTTHUMP00000158906;OTTHUMP00000222873;OTTHUMP00000222877;endoplasmic reticulum aminopeptidase 2;leukocyte-derived arginine aminopeptidase APPROVED protein-coding ENSG00000164308 29499 14306 609497 VALIDATED 1312320 ERAL1 Era-like 12S mitochondrial rRNA chaperone 1 17 17 17 q11.2 24040945 24047496 + 24206169 24212198 + 27182043 27188072 + 1580863;6480464 21145461;12477932;11733036;10945472;15489334;14759258;14702039;20604745;22990118;22939629;20186120;21139048;21890473;22354994;22904065 26284 J3QRV9;J3QSB2;J3QT61;K7EQJ8;O75616 AB049388;ABBA01015038;ABBA01015039;AC024267;AF082657;AF082658;AK023342;AMYH01008285;AY007435;BC019094;BX537542;CH471159;NM_005702 AAC31603;AAC31604;AAG12978;AAH19094;ABM83552;ABM86792;BAB56112;BAG51183;EAW51146;EAW51147;EAW51148;EAW51149;NP_005693;O75616 Hs.3426 1678693;1734456;1848370;2109289;5022200;5037552 D17S1422E;D8S2279;ERAL1_9480;G19792;L18426;RH10596 ERA;ERAL1A;H-ERA;HERA-A;HERA-B CEGA;ERA-W;ERA-like protein 1;Era G-protein-like 1;GTP-binding protein era homolog;GTPase Era, mitochondrial;GTPase, human homolog of E. coli essential cell cycle protein Era;OTTHUMP00000163515;conserved ERA-like GTPase;era (E. coli G-protein homolog)-like 1;hERA APPROVED protein-coding ENSG00000132591 3424 08466 607435 PROVISIONAL 732566 ERAP1 endoplasmic reticulum aminopeptidase 1 The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 5 5 q15 96122270 96169648 - 96096514 96149848 - 1578804;2315691;2315693;6480464 16181325;19202550;15741767 10220586;12748171;15691326;11056387;16034137;19433412;19414429;19404951;19110536;18987748;18593381;18445477;18393273;17999179;17952073;17390085;17015730;16585582;16407280;21229357;22466567;16344560;16286653;16054015;15908954;15489334;15314084;14662887;12975309;12477932;12436110;12436109;12368856;12189246;12168954;11857741;11481040;9628581;8125298;19913121;20592285;20595269;20628086;20347630;20843824;20953187;20953190;21068102;21078719;19578876;19581569;19692350;19828632;19877036;19917163;20032103;20062062;20103633;20379614;20419298;21242517;21362330;23281010;21478864;21041274;21574996;21508329;21314638;20367925;21865284;21424381;21743469;22253828;22286212;22632381;21877190;22106953;21139048;21281511;23291587;22896742;22512642;23093722;23128233;22918227;22931917;21833528;22797925;23545452;23264405 51752 D6RAL9;H0Y9X5;Q9NZ08 AB011097;ABBA01069229;AC008906;AF106037;AF183569;AF222340;AK222873;AK291636;AK310535;AL110186;AMYH01015491;AY028806;AY028807;AY358590;BC030775;CH471084;DA327238;DA704693;DC398730;NG_027839;NM_001040458;NM_001198541;NM_016442 AAF07395;AAF20384;AAF34664;AAH30775;AAK37777;AAK37778;AAQ88953;BAA25451;BAD96593;BAF84325;EAW96077;EAW96078;EAW96079;NP_001035548;NP_001185470;NP_057526;Q9NZ08 Hs.666524 1661367;1666189;1669529;1681987;1739073;1854165;2106439;2116803;2140895;2151157;2156146;2162460;2182273;2187627;5095827 ARTS-1__4376;D5S1571E;D5S1787;D5S2413;D5S2629;D5S2667;G16055;RH45579;RH47549;RH69827;RH70772;RH80470;SHGC-60474;STS-D29461;WI-18741 A-LAP;ALAP;APPILS;ARTS-1;ARTS1;ERAAP;ERAAP1;KIAA0525;PILS-AP;PILSAP OTTHUMP00000158909;OTTHUMP00000222801;adipocyte-derived leucine aminopeptidase;aminopeptidase PILS;aminopeptidase regulator of TNFR1 shedding;endoplasmic reticulum aminopeptidase 1;endoplasmic reticulum aminopeptidase associated with antigen processing;leucyl-specific aminopeptidase pils;puromycin-insensitive leucyl-specific aminopeptidase;type 1 tumor necrosis factor receptor shedding aminopeptidase regulator APPROVED protein-coding ENSG00000164307 18173 06015 606832 REVIEWED 1345319 ERAS ES cell expressed Ras This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012] X X p11.23 48572227 48573492 + 48687283 48688548 + 1580863;6480464 18174262;16081664;15489334;12774123;12477932;6322122;9344703;9269777;16436505;19528480;19787253;20811723;20566745;21151392;22875024;17940286;18225573;21205089;21965746 3266 Q7Z444 AB093575;ABBA01046069;AC231533;AF196971;AMYH01022290;BC101642;BC101644;CH471224;HY043532;NM_181532;X00419 AAI01643;AAI01645;BAC76997;EAW50743;NP_853510;Q7Z444 Hs.447330 1702372;1740647;5493373;7185928 DXS6676;GDB:192495;UniSTS:485868 HRAS2;HRASP;MGC126691;MGC126693 E-Ras;GTPase ERas;OTTHUMP00000065857;embryonic stem cell-expressed Ras;small GTPase protein E-Ras;v-Ha-ras Harvey rat sarcoma viral oncogene homolog 2;v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene protein-coding ENSG00000187682 5174 02339 300437 REVIEWED 619563 ERBB2 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] 17 17 q12 35097919 35138441 + 37844393 37884915 + 1580988;1580989;1580990;734938;734939;734940;1580863;2289947;2289920;2289921;2289922;2289923;2289924;2289925;2289926;2289927;2289928;2289930;2289931;2289932;2289933;2289941;2289981;2289987;2289979;2289955;2289934;2289935;68774;2289950;2298491;2298502;2298490;2298506;2298504;2298499;2298503;2292909;2317963;4143515;5133243;6480464;6484113;6907045;7240710 15685397;10421602;9158311;11238891;12072561;12526770;17465227;1913683;18269779;18264744;18256879;18245541;18237248;18097576;17987577;17987122;17296437;17119686;16932912;16932067;17704947;15788662;15360049;17203220;15857400;16771730;16761510;9030624;16962163;17945336;16685269;18202752;14614020;16157365;18575766;16360440;18427947;15982853;19078924;21277552 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2064 B4DTR1;F5H1T4;J3KRI9;J3KS21;J3KTI5;J3QL83;J3QLU9;J3QLV2;J3QRJ7;J3QRX1;P04626 AB025285;AB025286;AB221349;AB221350;ABBA01031858;ABBA01031859;ABBA01031860;AC079199;AC087491;AF177761;AK131568;AK295195;AK296908;AK300321;AK309029;AK313683;AMYH01008375;AMYH01008376;AY208911;BC080193;BC110392;BC167147;BI755753;BM678576;CH471152;CN409735;HM437238;JA362572;JA851628;L29395;M11730;M12036;M16792;M86910;M95667;NG_007503;NM_001005862;NM_004448;X03363 AAA35809;AAA35978;AAA58637;AAA75493;AAC37531;AAD56009;AAF30295;AAI56756;AAI67147;AAO18082;ADN43069;BAE15959;BAE15960;BAG58195;BAG59464;BAG62073;CAA27060;CCA94568;CCQ77584;EAW60595;EAW60596;EAW60597;NP_001005862;NP_004439;P04626 Hs.446352 1656309;1679760;1741387;1743181;1795792;5015619;5015798;5015961;5016781 D11S3114;D15S1477;ERBB2_331;GDB:180968;GDB:181407;GDB:285022;RH69066;RH75810;SHGC-67307 CD340;HER-2;HER-2/neu;HER2;MLN 19;NEU;NGL;TKR1 c-erb B2/neu protein;herstatin;metastatic lymph node gene 19 protein;neuro/glioblastoma derived oncogene homolog;neuroblastoma/glioblastoma derived oncogene homolog;p185erbB2;proto-oncogene Neu;proto-oncogene c-ErbB-2;receptor tyrosine-protein kinase erbB-2;tyrosine kinase-type cell surface receptor HER2;v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog);v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog APPROVED protein-coding ENSG00000141736 3430 01281 137215;137800;164870;211980;613659 REVIEWED 1350595 ERC2-IT1 ERC2 intronic transcript 1 (non-protein coding) This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] 3 3 3 p14.3 55658297 55660560 - 55667516 55668537 - 55691234 55693497 - 6480464 12477932;9653645 711 O76042 ABBA01024453;AC025572;AMYH01013202;BC069104;BC069453;BC074933;BC074934;NR_024615;U88965 AAC39932 Hs.667161 2158977;5492705;5494045 D3S2976;UniSTS:480801;UniSTS:482095 C1orf1;C3orf51;Po42 APPROVED miscrna 1229 04924 VALIDATED 1321667 ERBB2IP erbb2 interacting protein This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 5 5 q12.3 65258140 65412606 + 65222382 65376851 + 1580863;6480464;6907045 11375975;16714539;10878805;19187442;19013433;18667832;18498353;17591701;17100642;17081983;16737969;16301319;16203728;16094384;15592455;15570572;15489334;15302935;15231748;15144186;14702039;12966186;12650946;12477932;12446668;12444095;12379659;12370826;12168954;12047349;11821434;11711544;11440998;11279080;11278603;10574462;17643375;20379614;20936779;18003620;15342556;16344560;21878490;17110338;21150319;21963094;21988832;22547678;23000965;23524970;21139048;21906983;22318606;18029348;22880131;18729074;22745766 55914 B4DIP2;H0Y9E8;H0YA04;Q9NR18 AB033051;ABBA01048318;ABBA01048319;ABBA01048320;ABBA01048321;AC010359;AC025442;AF263744;AF276423;AI082776;AK001180;AK027077;AK074288;AK295708;AK304693;AL704641;AMYH01015135;AMYH01015136;BC050692;BC115012;BC115015;BC126464;BC144075;BP199825;BP342103;BU145959;CB998970;CH471137;D62071;DA723889;DR000131;N67861;NG_031822;NM_001006600;NM_001253697;NM_001253698;NM_001253699;NM_001253701;NM_018695 AAF77048;AAH50692;AAI15013;AAI15016;AAI26465;AAI44076;AAK69431;BAA86539;BAA91538;BAG58554;BAG65463;EAW51332;EAW51333;EAW51334;EAW51335;NP_001006600;NP_001240626;NP_001240627;NP_001240628;NP_001240630;NP_061165;Q96RT1 Hs.591774;Hs.597241 1648981;1664545;1729894;1770075;1786620;1856003;2136178;2143128;5017807 D5S356;ERBB2IP;G07329;RH36556;RH46258;RH78179;SGC33426;SHGC-144444;SHGC-31186 ERBIN;LAP2 ERBB2-interacting protein;OTTHUMP00000123463;OTTHUMP00000123464;OTTHUMP00000221984;OTTHUMP00000221985;OTTHUMP00000221986;OTTHUMP00000221987;OTTHUMP00000221988;densin-180-like protein;protein LAP2 APPROVED protein-coding ENSG00000112851 15842 06090 606944 REVIEWED 733426 ERBB3 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 q13 54760159 54783395 + 56473809 56497291 + 1580863;2289947;2289967;2289949;2289980;68774;2289942;2289944;2289979;2289946;2289952;2289941;2289950;2289951;2298500;2298502;2298505;2298506;2298499;2298501;2317965;2317988;6480464;6484113;6907045;7240710 17465227;11797086;17465220;16469638;9030624;18182100;17634423;17203220;17532856;9470844;17704947;16962163;11206334;18559590;16685269;10537356;14614020;18575766;16896008;18519747;16829981 20647770;21709195;11389077;7514177;10572067;7556068;10559227;17701904;12646923;2687875;19367581;19288496;19240061;19148499;19073967;19047113;18985033;18978792;18942860;18940880;18852121;18799465;18768436;18700973;18698037;18632642;18625725;18593762;18424286;18398842;18381441;18270579;18231572;18198356;18172732;18056992;18036567;18024331;17823122;17697999;17671674;17652160;17638862;17631905;17627612;17554300;17554260;17463250;17275115;17210635;17203234;17177598;16958035;16896310;16867224;16729043;16690615;16675564;16622439;16401639;16307437;16199884;16143043;15862947;15731393;15704104;15688028;15611073;15520002;15499613;15498868;15489334;15378541;15358134;15225657;15162166;15141384;14737100;14702039;14647450;14576349;12888923;12853564;12840049;12824184;12789268;12768307;12618754;12556529;12483526;12477932;12411582;12154198;12093292;11914075;11859873;11821958;11807823;11555649;11546794;11337467;11326315;11325528;11278868;11189010;11173924;11166154;11114724;10799311;10710290;10682683;10527633;10383151;10095121;9694850;9681822;9565587;9516479;9168115;9168114;8669836;8188716;7847801;7689552;7685162;7656248;7592681;7538656;2164210;19060928;11867753;16169070;22248472;21109951;21203803;17969526;19913121;20549515;20628086;20628624;20647273;20586186;20537867;20581867;22327010;22436610;20628057;8889548;16341674;20695834;21246584;20951118;20589763;20695903;20726858;20800603;20881644;20962850;20029029;20661224;20668683;20682778;20227043;15282549;12939402;15583694;19390858;19430480;19447869;19481955;19497323;19609946;19622585;19648825;19659570;19737968;19797898;19878579;19951419;19995212;20064929;20103628;20203524;20204273;20351256;20446891;20467331;8702572;20587519;20626753;20604919;21385943;22213458;22733765;21320340;23213231;21407808;20824716;22891299;10369675;22554477;23052372;23060569;22854050;23543055;21792199;21725367;21576364;21622572;20038315;21391216;21438025;21930127;21801427;22853430;21741919;21877752;21484789;22274864;16273093;22848366;22939624;21829393;22301547;21638049;22261253;22262199;17384230;22552284;9130710;9756944;23680147;15504738;22484852;23328545;22951725;23251661;22983903;22989054;23146892;23541807;23504322;21939528;22815787;22562124 2065 B3KWG5;B4DGQ7;F8VRI5;F8VRL0;F8VW48;F8VW56;F8VX90;F8VYK4;H0YHE4;P21860 AA524528;ABBA01008405;AC034102;AK124710;AK125028;AK291681;AK294719;AK295650;AK300909;AMYH01004499;AMYH01004500;AU100462;BC002706;BC041579;BC082992;BM837872;BT007226;BU674508;BX641868;CH471054;DC344156;DC347955;JA454939;M29366;M34309;NG_011529;NM_001005915;NM_001982;S61953;U88356;U88357;U88358;U88359;U88360 AAA35790;AAA35979;AAB26935;AAC39857;AAC39858;AAC39859;AAC39860;AAF86628;AAH02706;AAH82992;AAP35890;BAF84370;BAG54075;BAG54127;BAG57868;BAG58519;BAG62544;CCD32996;EAW96879;EAW96880;EAW96881;EAW96882;EAW96883;NP_001005915;NP_001973;P21860 Hs.118681;Hs.622058 1339529;1643735;1654249;1739387;1746545;1795794;2152074;2153742;5038503 D12S1388E;D12S1604;ERBB3_1423;G15952;G64347;RK1196_1197;SHGC-35265;STS-M34309;WI-16415 ErbB-3;HER3;LCCS2;MDA-BF-1;MGC88033;c-erbB-3;c-erbB3;erbB3-S;p180-ErbB3;p45-sErbB3;p85-sErbB3 OTTHUMP00000243039;OTTHUMP00000243040;OTTHUMP00000243072;OTTHUMP00000243359;OTTHUMP00000243360;avian erythroblastosis oncogene b 3;proto-oncogene-like protein c-ErbB-3;receptor tyrosine-protein kinase erbB-3;tyrosine kinase-type cell surface receptor HER3;v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 APPROVED protein-coding ENSG00000065361 3431 01820 190151;607598 REVIEWED 732538 ERBB4 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 2 2 q33.3-q34 211948687 213111597 - 212240442 213403352 - 734941;1580863;1580989;2289949;2289978;2289992;2289977;2289981;2289942;2289956;2289979;2289943;2289947;2289993;2289980;2289987;2289950;2289951;2298502;2298505;2298506;2298499;2317965;6480464;6907045 14555954;10421602;17465220;17922460;17438359;18094435;15788662;18182100;15694257;17203220;18006009;17465227;17401154;16469638;15360049;16962163;11206334;16685269;10537356;14614020;18575766;18519747 8617750;22504067;15026342;15023535;14702039;12869563;12807903;12678544;12648466;12637154;12532415;12528817;12477932;12454007;12297288;12175853;11825873;11741961;11679632;11278868;11254912;10918572;10725395;10353604;10348342;9771476;9565587;9516479;9334263;9275162;9230911;9168115;9168114;9135143;9110174;8619474;9419975;10572067;11867753;8383326;12646923;19367581;19263517;19240061;19171023;19148499;19098003;18985033;18973758;18721752;18668031;18662768;18424286;18335053;18334220;17945187;17909041;17903305;17761534;17681096;17638867;17598910;17505063;17487277;17177598;17164265;17018285;16934755;16914727;16912174;16891421;16878160;16842254;16832345;16819515;16778220;16767099;16729043;16606438;16518842;16477370;16463386;16428439;16402353;16251361;16249994;16203964;16187281;16170367;16061658;15985438;15979989;15863494;15746097;15735025;15685397;15562026;15534001;15489334;15248827;15084248;8062828;7721889;7700649;7689552;18334649;10839362;22327010;19913121;20600594;20628086;20303366;20550710;19047365;17969526;21217148;20921115;15282549;15345710;20585313;18029348;20881644;20975381;20029029;12939402;17463226;19017278;19390858;19439407;19447869;19481955;19561640;19596786;19609946;19624808;19718025;19736351;19808643;20022944;20204273;20379614;20446891;20603612;21203803;21232925;20886074;22554477;23153581;21407808;21233683;21290564;22415601;22891299;22854050;22115776;21637803;21547347;10722704;16837552;17120616;21422241;21832192;21664604;19193720;21805036;21890473;22699492;22012915;22378872;22294845;22308027;22452962;21993442;22584572;20858735;23340734;16273093;22939624;23028342;23313737;17360433;23123776;22549119;22761786;22634065;22739235 2066 E9PDR1;H3BLT0;Q15303 AB209697;ABBA01062750;ABBA01062751;ABBA01062752;ABBA01062753;ABBA01062754;ABBA01062755;ABBA01062756;ABBA01062757;ABBA01062758;ABBA01062759;ABBA01062760;ABBA01062761;AC012069;AC068970;AC079119;AC092680;AC092840;AC093823;AC096547;AC096765;AC105921;AC108216;AC108220;AF007153;AI793060;AK024204;AK126298;AK308606;AMYH01011466;AMYH01011467;AMYH01011468;AMYH01011469;AMYH01011470;AMYH01011471;AMYH01011472;AMYH01011473;AMYH01011474;AMYH01011475;AMYH01011476;AMYH01011477;BC112199;BC143741;BC143747;BC143749;BQ015804;CH471063;CR627023;CS238515;L07868;NG_011805;NM_001042599;NM_005235 AAB59446;AAI12200;AAI43742;AAI43748;AAI43750;AAX82011;AAX88856;AAY14899;AAY15092;AAY24158;AAY24303;BAD92934;CAJ55818;EAW70496;EAW70497;EAW70498;NP_001036064;NP_005226;Q15303 Hs.390729 1334723;1644323;1645413;1694608;1703962;1704178;1706080;1706446;1709122;1710582;1713567;1713723;1715065;1721555;1726237;1729121;1734942;1747599;1757315;1769657;1779810;1852738;1853764;2114254;2115270;2131113;2140384;2168434;2174818;2186992;5094184;7187501 A005E44;AFMa052yb9;AU049543;D2S1702E;D2S1749;D2S2712;D2S371;G16508;G19847;G43306;G54596;G59782;G63819;G65476;RH119484;RH120271;RH120744;RH15943;RH45906;RH47938;RH68995;SHGC-144718;SHGC-153780;SHGC-79806;SHGC-80076;SHGC-80807;SHGC-82395;SHGC-83780;SHGC-85721;SHGC-9274;WI-21559 HER4;MGC138404;p180erbB4 OTTHUMP00000163968;OTTHUMP00000206623;OTTHUMP00000209432;avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4;proto-oncogene-like protein c-ErbB-4;receptor tyrosine kinase;receptor tyrosine-protein kinase erbB-4;tyrosine kinase-type cell surface receptor HER4;v-erb-a erythroblastic leukemia viral oncogene homolog 4 APPROVED protein-coding ENSG00000178568 3432 02767 600543 REVIEWED 1607056 ERC2 ELKS/RAB6-interacting/CAST family member 2 3 3 3 p14.3 55509269 56468649 - 55517376 56477431 - 55542336 56502391 - 6480464 12923177;18519826;17903296;15728193;15489334;14734538;14723704;12477932;12391317;12168954;12163476;9205841;20201926;20379614;21057379;15090600;22939629 26059 H7C4G9;O15083 AB002376;ABBA01024450;ABBA01024451;ABBA01024452;ABBA01024453;ABBA01024454;ABBA01024455;AC025572;AC098478;AC099775;AC104302;AC105748;AC105753;AC116991;AC121255;AC121764;AC126119;AC130276;AMYH01013202;AMYH01013203;AMYH01013204;AMYH01013205;AMYH01013206;BC111550;BC112391;CH471055;NM_015576 AAI11551;AAI12392;BAA20832;EAW65315;EAW65316;NP_056391;O15083 Hs.476389 1334597;1335269;1335522;1336576;1336835;1339021;1339174;1659409;1667780;1671742;1705480;1705602;1705740;1706518;1717635;1722965;1730211;1739449;1747861;1749627;1752737;1754243;1755831;1760127;1762801;1763999;1765513;1765611;1779198;1783382;1784898;1848823;2122619;2131902;2132685;2141930;2156654;2158977;2159247;2163964;2164217;2164688;2182866;2183471;5095066;7184675 A002T36;AFMA338XC5;AHT028;Cda0je04;D3S1326E;D3S1332E;D3S1606;D3S2371;D3S2408;D3S2493;D3S2972;D3S2976;D3S3048;D3S3115;D3S3134;D3S3279;D3S3588;D3S3621;D3S3721;D3S3724;D3S4007;G60580;G66853;NIB681;RH122122;RH18386;SHGC-106543;SHGC-108160;SHGC-111312;SHGC-132265;SHGC-14182;SHGC-142673;SHGC-146580;SHGC-147651;SHGC-148992;SHGC-149061;SHGC-152190;SHGC-152756;SHGC-79620;SHGC-81231;SHGC-83461;SHGC-83829;SHGC-83911;STS-M78320;WI-14613 CAST;CAST1;ELKSL;KIAA0378;MGC133063;MGC133064;SPBC110;Spc110 CAZ-associated structural protein;ERC protein 2;OTTHUMP00000212914;OTTHUMP00000212915;OTTHUMP00000212916;cytomatrix protein p110 protein-coding ENSG00000187672 31922 10810 VALIDATED 1604628 ERC1 ELKS/RAB6-interacting/CAST family member 1 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 p13.3 970665 1472958 + 1100404 1605099 + 6480464;6484113 15218148;12391317;12923177;17690697;16964243;15489334;15324660;14723704;14702039;12477932;12203787;12168954;11929610;10697956;10470851;10337992;8889548;1733848;17353931;20201926;20379614;20562859;20932476;19013454;22558309;21832049;22939629;21139048;21628590;19531213;21145461;21150319;22504420;23000965 23085 G8JLD3;K7EIZ7;K7EKH8;K7EP25;K7EPD6;K7EPP6;Q8IUD5 AB015617;AB029004;AB053468;AB053469;AB053470;AB053471;ABBA01048826;ABBA01048827;ABBA01048828;ABBA01048829;ABBA01048830;ABBA01048831;ABBA01048832;AC004671;AC004672;AC004802;AC004803;AC004804;AC006561;AC092469;AK000148;AK056312;AK091577;AK092201;AK097177;AK294351;AK309992;AMYH01004168;AMYH01004169;AMYH01004170;AMYH01004171;BC005065;BC037377;BC068006;BC073885;BC132782;BC132784;BC144287;BC150248;BM984956;CH471116;NM_178039;NM_178040;NR_027946;NR_027948;NR_027949;X58046 AAH68006;AAI32783;AAI32785;AAI50249;BAA83033;BAA88763;BAA90975;BAC03827;BAC54107;BAC54108;BAC54109;BAC54110;BAG57618;EAW88932;EAW88933;EAW88934;EAW88935;EAW88936;EAW88937;EAW88938;EAW88939;EAW88940;NP_829883;NP_829884;Q8IUD2 Hs.601216 1335205;1342151;1663695;1672192;1672238;1687622;1689652;1693946;1713841;1725221;1731922;1733622;1736270;1758831;1772581;1782614;2118509;2127378;2141818;2145179;2149299;2154774;2167768;2182123;2184405;2186315;5022200;5100437 A004N30;D12S1227E;D12S1285;D12S1406;D12S1587;D12S2047;D12S388;D12S389;D12S40;D12S972;G24041;G41231;G41232;G41233;G41234;G41235;G41791;G42667;L18426;RH118903;RH120809;RH45217;RH48779;RH91161;SHGC-144473;SHGC-152870;STS-W47124;WI-13645 Cast2;ELKS;FLJ31750;KIAA1081;MGC12974;RAB6IP2 ELKS/Rab6-interacting/CAST family member 1;ERC-1;OTTHUMP00000160633;OTTHUMP00000238056;OTTHUMP00000238057;OTTHUMP00000238058;OTTHUMP00000238059;OTTHUMP00000238060;OTTHUMP00000238061;RAB6 interacting protein 2;Rab6-interacting protein 2 APPROVED protein-coding ENSG00000082805 17072 06181 607127 REVIEWED 1312517 ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4 The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009] 16 16 p13.12 13921524 13949705 + 14014014 14046205 + 1580863;1601093;2317223;6480464;6907045;7240710;7246926;7246919 8797827;18544627;19154342;22824526 11790111;10413517;14734547;9722633;14728600;17055345;10583946;16678501;14690602;10214908;11313499;12571280;19536092;19434073;19423537;19339270;19297315;19258314;19237606;19124519;19116388;19074885;19064572;19029193;18990748;18838045;18830263;18812185;18767034;18709642;18701435;18676680;18551366;18396111;18270339;18068852;18026184;18020456;18006494;17945097;17912758;17685459;17682675;17575242;17438655;17313739;17299578;17210993;17081983;17078101;17018596;16823510;16806697;16638864;16609022;16537713;16492920;16399771;16393248;16338413;16284380;16284373;16258177;16195237;16076955;16034668;15936543;15932882;15886521;15849729;15184880;15095299;14652281;14625810;12477932;11895912;11259578;10644440;10479728;10447254;10074455;9580660;9579555;9485007;8887684;8332082;8197175;20585324;20694148;20518486;20601096;20634891;20644561;20372803;19394292;20846399;20731661;20864414;20957144;11401546;19170196;19595721;19595722;19596235;19596236;19625176;19692168;19902366;19920816;19956886;20061190;20062074;20150366;20183911;20199546;20201926;20221251;20429839;20453000;20496165;20522537;7559382;21277872;20541997;21896658;17289582;20508642;21423097;21672525;23385459;23455922;23623386;23623389;22771116;22939629;21839691;19471022;23415627;21139048;21693764;21737503;21890473;22547097;22353549;22085899;20301571;16916636;21424776;22212909;22457069;21240275;22609620;22902628;14706347;22848636;23093618;22768293;23537993 2072 A5PKV6;I3L4K0;I3NI48;Q92889 ABBA01006877;AC009173;AC010401;AF491814;AI470593;AK289726;AK301930;AK308341;AMYH01007176;BC020741;BC142631;CH471112;L76568;L77890;NG_011442;NM_005236;U64315 AAB07689;AAB50174;AAH20741;AAI42632;AAI60102;AAL91593;BAF82415;BAG63350;EAW85117;EAW85118;NP_005227;Q92889 Hs.567265 1679169;1788390;1788392;1788394;1788396;1788398;1788400;2142541;2219790;5015861;5016781;7185938 D10S16;ERCC4_4079;G67511;G67512;G67513;G67514;G67515;G67516;RH65247;RH76185;SHGC-67307 ERCC11;FANCQ;RAD1;XPF DNA excision repair protein ERCC-4;DNA repair endonuclease XPF;DNA repair protein complementing XP-F cells;OTTHUMP00000045868;excision-repair, complementing defective, in Chinese hamster;xeroderma pigmentosum group F-complementing protein;xeroderma pigmentosum, complementation group F APPROVED protein-coding ENSG00000175595 3436 00594 133520;278760;610965;615272 REVIEWED 1315921 ERCC1 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009] 19 19 q13.32 50604712 50619017 - 45910591 45927177 - 1580863;2313668;6480464;6907045;7240710;7246926 19440222;19154342 20211060;18430179;22053010;22266871;17720715;9722633;16076955;7559382;8811092;17055345;10583946;7657672;9256505;17614221;14690602;10214908;11313499;8197175;19620936;19573080;19552012;19549713;19536092;19513514;19470925;19434073;19421825;19362955;19361884;19339270;19332728;19318434;19297315;19289372;19270000;19258314;19257887;19247656;19237606;19203783;19194123;19124499;19116388;19074750;19068092;19064572;19035454;19029193;19020759;19009659;18990748;18990028;18977553;18854777;18830263;18823676;18797464;18676680;18672388;18640939;18635523;18623378;18616887;18615480;18604718;18594541;18564169;18520795;18509181;18505590;18494946;18483312;18478337;18451256;16341770;16338413;16315315;16308313;16284380;16284373;16224397;16212814;16195237;16189514;16144923;16034668;15958648;15936590;15932882;15922480;15885892;15849729;15788669;15746057;15746040;15734977;15709194;15688021;15489334;15297394;15277258;15213713;15173087;15140544;15095299;14734547;14702039;12869411;12865926;12800797;12645871;12643788;12477932;12220217;12189194;12164325;11936875;11753647;11707424;11062157;10498399;10320375;9827920;9653453;9360634;8432525;8275084;8197174;7598728;6462228;3290851;3034490;2821019;2471070;2420469;18396111;18395930;18386788;18358500;18347182;18332046;18289367;18270339;18204222;18081788;18036700;18026184;18024864;18006494;17987380;17961161;17932351;17925548;17912758;17685459;17617021;17606717;17549067;17534174;17522621;17502833;17438655;17401013;17314486;17313739;17303907;17299578;17273966;17229776;17222938;17210993;17197435;17151930;17131345;17078101;17064812;16985021;16979838;16899630;16896002;16875718;16819291;16817948;16723154;16690207;16622263;16609022;16537713;16510122;16507781;16407418;16393248;16364765;16351803;18425336;21496891;22547097;21529986;22110208;20104194;20518486;20395129;20470393;20728204;20530282;20627363;20644561;20736746;20817763;19875192;16341674;22994779;23244079;23259415;19538866;20846399;18029348;20689757;20731661;20734048;20813000;20863778;20864414;20935060;20957144;20979931;21029695;21048041;21057378;21075476;20332140;20504223;20651406;20673515;19488864;21091775;20673527;20677561;20823140;10675489;14706347;16756962;18756932;19150580;19170196;19173905;19235214;19240185;19253035;19543324;19574766;19580345;19596235;19625176;19626585;19636001;19661089;19661343;19664717;19667277;19672255;19687761;19692168;19773279;19786980;19789190;19805513;19822419;19832035;19850635;19878615;19922504;19940136;19956886;19960344;20003391;20003463;20009541;20021611;20047592;20061190;20070981;20085902;20189873;20216541;20221251;20232390;20331623;20351547;20354815;20368715;20378615;20385995;20391138;20429839;20453000;20462983;20495366;20496165;20504250;20508946;20522537;9013642;21206986;21165580;21839691;21289518;19596236;20975603;21093896;21117025;21029626;21076943;21278243;21286668;21323960;20143185;21726821;21394302;21597406;17289582;22897321;22890830;23095216;23155271;18683754;21177407;21262916;21426588;21896658;21940361;21956434;22351191;11259578;21750204;21902499;21971700;22022380;22034895;22199271;21601580;20855270;21418871;21766907;21450455;21360249;21827803;21355309;22093627;22159227;22261301;22177891;22302397;22323595;22329723;22331726;22344449;22740205;23148636;23401439;21933627;22002622;22201261;22374244;21875468;22102173;22176134;20467918;21139048;21553053;21553054;21720251;21890473;21899657;21906983;20301571;22203729;16916636;21942242;22212909;22439756;22457069;23166636;19595721;21240275;22609620;22902628;22938460;22821389;22932088;23098477;23171216;23272099;21788964;23000965;23093618;23514287;22571922;23147544;23481186;23549037;23147699;23623389;23011763;23086647;20868593;22939629;23263828;19056823;23275151;23581229;22555222;22569992 2067 B2RC01;B3KRR0;K7EJL2;K7EJW9;K7EK97;K7EMT9;K7EP14;K7ER60;K7ER89;K7ES46;P07992 AA761510;AB069681;ABBA01040926;ABBA01040927;AC092309;AC139353;AF001925;AF433652;AF512555;AK092039;AK314884;AMYH01009851;BC008930;BC052813;BM011724;BM450988;BM789972;BQ019990;BQ671113;BT019806;BU627436;CH471126;DB468563;M13194;M26163;M28650;NG_015839;NM_001166049;NM_001983;NM_202001 AAA35810;AAA52394;AAA52395;AAC16253;AAH08930;AAH52813;AAL56574;AAM34796;AAV38609;ABM83928;ABM87247;BAB62810;BAG37398;BAG52472;EAW57348;EAW57349;EAW57350;NP_001159521;NP_001974;NP_973730;P07992 Hs.435981 1673702;1731867;1741675;1742047;1797104;2180884;5109281 D1S1425;ERCC1;GDB:181915;GDB:190019;RH47033;STS-R48186;UniSTS:148575 COFS4;RAD10;UV20 DNA excision repair protein ERCC-1 APPROVED protein-coding ENSG00000012061 3433 00533 126380;610758 REVIEWED 1342473 ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011] 13 13 q33 102296175 102326346 + 103498191 103528351 + 1580863;6480464;6907045;7240710;7246926;7246919 19154342;22824526 16246722;8090225;12644470;8652557;10026181;7510366;16167068;10583946;7657672;17208056;11259578;10214908;11313499;8710877;19573080;19536092;19444904;19434073;19430706;19414392;19404856;19350405;19289372;19280628;19270000;19237606;19177501;19157633;19124519;19116388;19096231;19074885;19064572;19029193;18990748;18854777;18830263;18825991;18767034;18709642;18701435;18676680;18478970;18320070;18270339;18204222;18079701;18077223;18026184;17932351;17893230;17855454;17825393;17712032;17685459;17575242;17494052;17476281;17466625;17438655;17374967;17313739;17299578;17164380;17121236;17081983;17078101;16985021;16979838;16823510;16738949;16646069;16609022;16537713;16536785;16507781;16492920;16399771;16343742;16284373;16284370;16258177;16195237;16094634;16043197;15992842;15849729;15746040;15590680;15572672;15494739;15489334;15328203;15302935;15082767;14729591;14726017;14688016;12869423;12865926;12494477;12477932;12060391;11841555;11266544;11228268;10498399;10447254;10408173;9927729;9305916;8483505;8483504;8413238;8206890;8088806;8078765;7951246;7651464;7517009;2276736;1483924;20601096;20644561;22981091;20233728;20868484;20731661;20813000;19625176;19661089;19692168;19693700;19740755;19773279;19789190;19878615;19954624;20150366;20183911;20199546;20232390;20391347;20453000;20460046;20496165;20522537;20530453;15358233;16713569;17643375;19170196;16344560;20725631;21216588;21287534;21347786;21426550;22815677;22781116;22213216;22982416;21390047;16147992;21558802;22771116;19471022;21963094;23000965;21139048;21415862;21890473;21670956;20301571;22108238;16916636;21424776;22371296;22848513;23330005;22659345 2073 F2Z2A1;P28715;Q9HD60 ABBA01027069;AF255433;AF255436;AF462447;AF550128;AK294708;AK299758;AK303558;AL157769;AMYH01005342;BC031522;BE223050;BQ002437;BQ707436;BX647399;CH471085;D16305;DA195001;L20046;NG_007146;NM_000123;X69978;X71341;X71342 AAC37533;AAF89177;AAF89178;AAF89179;AAH31522;AAN46091;AAP97715;ABM82744;ABM85932;BAA03812;BAG57863;BAG61647;BAG64582;CAA49598;CAA50481;EAX09071;EAX09072;NP_000114;P28715 Hs.258429 1645730;1648879;1725573;1743073;1744719;1762869;1788296;1788298;1793262;1793264;1795796;2133347;2143820;2152163 A008L48;A009V05;ERCC5_1281;G62084;G67466;G67467;GDB:251639;GDB:554884;PMC20331P1;PMC20331P2;RH46042;RH71360;SHGC-146634;STS-X69978 COFS3;ERCM2;UVDR;XPG;XPGC DNA excision repair protein ERCC-5;DNA repair protein complementing XP-G cells;OTTHUMP00000018678;XPG-complementing protein;excision repair protein;xeroderma pigmentosum complementation group G protein;xeroderma pigmentosum group G-complementing protein;xeroderma pigmentosum, complementation group G APPROVED protein-coding ENSG00000134899 3437 00595 133530;278780 REVIEWED 1352562 ERCM1 excision repair complementing defective repair in mouse cells 2076 3440 133535 1350156 ERDA1 expanded repeat domain, CAG/CTG 1 9398837;9774773 9030 AB007820 3442 603279 1606557 ERCC6L excision repair cross-complementing rodent repair deficiency, complementation group 6-like X X X q13.1 71767719 71802070 - 71341232 71375583 - 71424507 71458858 - 6480464 17353931;18418076;17956945;17218258;15917148;15302935;14702039;12477932;22563370;20130082;19596235;19904549;21743438;22939629;22990118;21139048;21890473;20360068;23275563;22505724 54821 B5MDQ0;Q2NKX8 ABBA01046201;ABBA01046202;ABBA01046203;ABBA01046204;ABBA01046205;ABBA01046206;ABBA01046207;AK000112;AK056494;AK074719;AL135749;AMYH01022553;AW015865;AY121802;BC008808;BC111486;BM454829;BU431499;CH471213;EU069463;JA889683;NG_016328;NM_017669 AAH08808;AAI11487;AAM82750;ABU25227;BAA90952;BAC11160;CCQ89140;EAW71813;EAW71814;NP_060139;Q2NKX8 Hs.47558 1647380;1681833;1721135;1856829 AF020151;DXS6732;G59402;RH98807 FLJ20105;MGC131695;PICH;RAD26L ATP-dependent helicase ERCC6-like;DNA excision repair protein ERCC-6-like;OTTHUMP00000023525;Plk1-interacting checkpoint helicase;SNF2/RAD54 family protein;excision repair cross-complementing rodent repair deficiency complementation group 6 - like;excision repair protein ERCC6-like;tumor antigen BJ-HCC-15 protein-coding ENSG00000186871 20794 10974 300687 VALIDATED 1323005 ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013] 10 10 q11.23 50336715 50417078 - 50664491 50747147 - 1580863;6480464;6907045;7240710;7246919;7246923 22824526;18166977 12560492;16107709;8999876;16916636;16246722;7664335;9326587;9973627;10564257;11313499;19626602;19573080;19481676;19444904;19270000;19237606;19221478;19179336;19132999;19116388;19074885;19064572;19015224;18854777;18789574;18784753;18767034;18708399;18676680;18656484;18628313;18446857;18369450;18270339;18185538;18183039;18026184;17996703;17933579;17855454;17854076;17728339;17707230;17575242;17567611;17438655;17313739;17119055;16964243;16772382;16754848;16751180;16601682;16565220;16537713;16492920;16258177;16399771;16128801;15746040;15548521;15486090;15231748;15226310;15164054;14702039;12606941;12419226;12121485;12095617;12060667;11809892;10944529;10882116;10767341;10739753;10498399;10447254;10196384;9774388;9450932;9443879;9372911;9137418;8652557;8382798;7663514;2172786;1951442;1349298;1339317;20541997;20181933;20100872;20813000;21072178;12477932;19170196;19580815;19625176;19661089;19692168;19773279;19789190;19878615;19894250;19948975;20044625;20122405;20379614;20453000;20496165;20522537;16603771;20456449;11003660;22743267;21438118;20470425;20673160;23253478;16344560;21143350;23028371;23369858;21566259;21756275;21852235;21918225;19471022;21139048;21643987;21693764;21890473;21987572;20301516;22336945;22473955;22032989;22483866;21282530;21963094;22902626;23000965;23322570;23229313 2074 D6R9X7;F5H493;Q03468;Q59FF6 AB209504;ABBA01041070;ABBA01041071;AC073366;AK094670;AK130100;AK303022;AMYH01002642;AY204752;BC127104;CH471187;CR749388;DA457690;L04791;NG_009442;NM_000124 AAA52397;AAI27105;AAO13487;BAD92741;BAG64148;CAH18238;EAW93094;EAW93097;NP_000115;Q03468 Hs.49063 1299925;1648354;1679417;1685984;1689608;1701266;1722643;1730219;1736050;1736100;1767522;1782022;1797504;1851797;1858491;2167374;2172666;5016781 D10S1321E;D10S1378E;D10S1553;D10S1766;D10S2351;D10S238E;ERCC6_1944;G60405;RH104261;RH26695;RH44808;RH66662;RH92205;RH98308;SHGC-149029;SHGC-37683;SHGC-67307;STS-L04791 ARMD5;CKN2;COFS;COFS1;CSB;RAD26;UVSS1 ATP-dependent helicase ERCC6;Cockayne syndrome B protein;Cockayne syndrome group B protein;DNA excision repair protein ERCC-6;OTTHUMP00000019581;Rad26 homolog;cockayne syndrome protein CSB APPROVED protein-coding ENSG00000225830 3438 00596 133540;211980;214150;278800;600630;609413;613761 REVIEWED 1316156 ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus functions in class II transcription. [provided by RefSeq, Jul 2008] 2 2 q21 127731336 127768222 - 128014866 128051752 - 1598911;1598912;1580863;2302855;6480464;6907045;7240710;7246920;7246919 11456315;16947863;9763211;22572993;22824526 11313499;10866664;1956789;17466626;8663148;2167179;10801852;8652557;9173976;9405375;17088560;11335038;16914395;8675009;10583946;8692841;17509950;17614221;8946909;8692842;7663514;1939271;2449431;9512541;9582279;9790902;10214908;12393749;12646563;19338310;19237606;19064572;18950845;18676680;17081983;16835333;16710452;15549133;15489334;15375507;15220921;14702039;14614013;14569024;12865926;12820975;12477932;12393803;12372413;12080057;11572868;11278765;10862089;10827951;10734143;10447254;10438593;10403766;10082552;10066804;10024882;9874796;9765201;9651670;9570510;9334327;9311822;9184228;9130708;9121429;9118947;9054383;9012405;8934526;8876669;8849451;8628270;8408834;8304337;8202161;8194528;8157004;8152490;8125298;7926747;2111438;1916809;1741247;8521393;15893730;12379483;18247557;19840190;19106100;21157430;20543986;20211142;20813000;20530579;17438371;17643375;19170196;19573080;19625176;19692168;19773279;20004634;20208140;20453000;20496165;20522537;9852112;21167544;11071939;21672525;10993082;23385459;9400991;22939629;17314511;11259578;21971700;22678362;21139048;21890473;21906983;22234153;16916636;22615732;20301571;18562274;21988832;22902626;23000965;23083890;8194529;16669699;23382212;18187620;22174317 2071 F2Z2V4;G3V1S1;H7C309;P19447 ABBA01040210;ABBA01040211;AC110926;AK091500;AK095557;AK127469;AK222465;AK290474;AK300250;AK307338;AK309405;AMYH01011018;AY163769;BC008820;CH471103;M31899;NG_007454;NM_000122 AAA52396;AAH08820;AAN46739;AAY15069;ABM84728;ABW03630;BAD96185;BAF83163;BAG52374;BAG53083;BAG62016;EAW95311;EAW95312;EAW95313;EAW95314;NP_000113;P19447 Hs.469872 1662344;1677394;2121583;2179432;5016596 D2S2558;GDB:631802;RH48443;RH69120;SHGC-59959 BTF2;GTF2H;RAD25;TFIIH;XPB BTF2 p89;DNA excision repair protein ERCC-3;DNA repair protein complementing XP-B cells;OTTHUMP00000203828;TFIIH 89 kDa subunit;TFIIH basal transcription factor complex 89 kDa subunit;TFIIH basal transcription factor complex helicase XPB subunit;TFIIH p89;basic transcription factor 2 89 kDa subunit;excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing);xeroderma pigmentosum group B complementing;xeroderma pigmentosum group B-complementing protein;xeroderma pigmentosum, complementation group B APPROVED protein-coding ENSG00000163161 3435 00593 133510;601675;610651 REVIEWED 1319264 ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 19 19 q13.3 50546686 50565669 - 45854649 45873845 - 1331525;1601070;1601068;1601069;1580863;2302855;2317223;2317228;5688739;5688734;5688735;5688737;5688741;5688738;6480464;6907045;7240710;7246920;7246919 15118671;11443545;7849702;9195225;9763211;18544627;16458430;17695467;21283657;20150366;19055600;19786980;9714461;22572993;22824526 20301571;22194171;22306120;22374424;18509181;18505590;18495522;18494946;18483312;18478337;18470933;18459458;18454848;18448328;18442012;18420361;18415712;18415014;18394656;18386788;18365755;18358500;18349297;18349268;18347182;18335219;18320070;18315909;18267032;18246963;18230301;18204222;18196582;18177646;18085999;18081788;18075460;18044339;18043991;18035379;18006925;17953974;17952468;17932351;17925548;17913280;17912469;17898541;17896209;17825393;17728339;17712032;17705814;17696747;17693188;17687452;17685459;17637462;17630853;17630376;17627014;17617021;17605237;17604576;17593927;17575242;17556064;16043197;16038584;16037119;16030124;16030112;16002061;16000577;15992842;15971256;15941969;15936590;15914277;15914210;15896456;15887293;15886521;15885892;15878910;15849729;15837542;15834925;15824172;15824159;15802298;15776433;15764301;15754315;15746160;15746040;15729710;15709194;15679883;15635413;15615908;15598761;15598760;15534626;15523694;15489334;15471894;15381366;15339847;15333465;15298945;15277258;15220921;15213713;15199549;15199548;15173214;15159312;15146197;15140544;15090466;14735199;14729591;14702039;14688016;14668933;14652287;14625810;14624713;14569024;14568296;12883749;12865926;12844488;12820975;12749816;12740916;12692111;17548684;17531525;17504986;17498557;17479411;17470448;17466626;17438703;17438655;17412371;17410042;17409981;17403617;17401013;17374967;17363013;17313739;17299578;17290401;17264068;17242676;17210993;17197435;17191090;17164380;17164360;17158087;17151930;17131345;17111423;17078101;17063276;17050553;17023576;17018785;17009404;16997330;16985021;16896002;16889696;16880786;16875933;16875718;16875604;16865671;16835333;16824555;16823510;16806697;16738949;16710452;16707649;16685590;16677755;16672066;16652373;16649224;16646069;16638864;16622263;16609022;16571649;16564556;16542436;16537713;16507781;16492920;16492913;16475125;16465622;16435384;16407418;16399771;16373199;16369171;16351803;16344560;16343742;16341674;16324877;16319991;16311243;16308313;16284380;16284373;16284370;16280050;16258177;16217922;16214924;16212814;16195237;16172101;16150943;16061005;16054878;10024882;9771713;9766681;9765201;9758621;9651670;9570510;9334327;9311822;9238033;9184228;9130708;9121429;9118947;9101292;9054383;8934526;8876669;8849451;8786141;12645871;8628270;8692841;17614221;8946909;7663514;1939271;2449431;9512541;9582279;9790902;10214908;11313499;12393749;12646563;19492231;19484764;19470925;19458053;19434073;19432884;19429237;19414392;19406934;19390575;19367277;19362955;19332728;19280628;19274602;19270000;19257887;19242824;19237606;19203783;19177501;19162321;19124519;19116388;19109787;19101034;19096231;19074885;19074750;19064572;19052983;19051060;19041121;19029193;19027952;19027756;18990748;18977234;18946634;18854777;18838045;18830263;18825991;18817897;18797464;18778871;18767034;18752184;18711149;18709642;18701435;18676680;18641418;18637129;18636124;18635523;18630471;18627000;18616887;18603015;18578568;18575735;18569591;18559563;18534129;17549067;12579497;12552590;12477932;12458209;12451985;12435843;12399122;12393447;12376500;12372413;12359753;12243508;12220217;12151350;12124811;12115580;12110342;11960912;11891028;11888908;11872635;11751380;11709541;11532866;11470747;11375896;11319176;11309287;11278765;11266560;11266437;11245433;11242112;11238179;11156600;11133811;11062469;10866664;10447254;10438593;10082552;10066804;8663148;11445587;10801852;8652557;8692842;9405375;2835663;17088560;11335038;8675009;10583946;22826098;22345163;22496165;8571952;8413672;8213812;7920640;7825573;7585650;2184031;1729695;8152490;20797633;21278243;21390047;20723587;18095557;19913121;20530282;20559012;20568454;20571908;20575039;20601096;20627363;20627704;20628086;20634891;20644561;20649433;20651612;20708344;20720310;20723346;20817763;19106100;20127278;20564624;20731661;20734048;20813000;20842450;20850372;20863780;20864414;20935060;20957144;20979431;20981350;20981556;21047201;21048041;21057378;21075476;20651370;20677654;19454010;20832885;16884686;19170196;19466538;19536092;19554020;19561388;19573080;19592152;19615095;19620936;19625176;19636001;19638463;19642387;19657998;19669592;19692168;19706646;19706757;19707883;19724896;19733688;19736055;19762325;19773279;19789190;19826048;19834688;19846926;19858398;19878615;19895736;19902366;19908066;19914098;19919686;19922504;19934020;19954624;19957595;20003391;20003463;20047592;20061190;20070155;20104979;20111903;20170971;20183911;20199546;20204500;20216541;20229274;20232359;20232390;20351547;20354818;20368715;20375340;20379402;20379847;20385995;20391138;20391347;20426969;20429839;20431719;20453000;20495366;20496165;20504250;20508946;20514470;20522537;20530453;9852112;20833695;21183201;22213390;22266871;22537351;22740138;22939629;21426550;20143185;21167544;21788800;20127180;21178723;21245954;21793320;22608006;21419115;21463130;21726821;21950097;21129812;21617750;11071939;20541997;21599457;23397959;8612585;21633601;21627375;21541661;21157430;21390502;21415862;21987080;21601580;21418965;22644997;21553048;21614524;21643959;21667112;21740187;21751184;21890746;21945240;21139048;21890473;21906983;22332413;21951951;22081374;22110223;21404106;22234153;21264535;22116596;22179996;22479369;22536360;22183307;22052224;22183071;22047709;22351191;22387547;22579466;22617342;22678362;23271362;23494240;22938460;22797977;23083890;23098477;22994751;22994779;23044807;21963094;22902626;22967467;23000965;22760492;23382212;23317245;23317281;23455922;23108145;23167354;22890093;23267107;22427030;23028453;22174317;22505724;23028604 2068 A8MX75;B4E0F6;E7EVE9;K7EIT8;K7EKF3;K7ENL1;P18074 ABBA01040922;ABBA01040923;AK092872;AK130849;AK303358;AL535248;AMYH01009850;AY092780;BC008346;BC108255;BC110522;BC110523;BG719746;BM769772;BM988142;BT006883;BX376468;CH471126;CN388234;DA409300;L47234;NG_007067;NM_000400;NM_001130867;X52221;X52222 AAI08256;AAI10523;AAI10524;AAL48323;AAM45142;AAP35529;BAC85446;BAG64418;CAA36463;CAA36464;EAW57341;EAW57342;NP_000391;NP_001124339;P18074 Hs.487294 1340751;1675547;1744545;5015891;5106773;5120656;5120658;5120660;5120662;5120664;5491603 D19S908;GDB:364012;GDB:364015;GDB:364018;GDB:364021;GDB:364025;GDB:364029;GDB:512988;MARC_23995-23996:1029525921:1;RH15967;RH80858 COFS2;EM9;MGC102762;MGC126218;MGC126219;TTD;XPD BTF2 p80;CXPD;DNA excision repair protein ERCC-2;DNA repair protein complementing XP-D cells;OTTHUMP00000045860;OTTHUMP00000045861;OTTHUMP00000045862;OTTHUMP00000045863;TFIIH 80 kDa subunit;TFIIH basal transcription factor complex 80 kDa subunit;TFIIH basal transcription factor complex helicase XPD subunit;TFIIH basal transcription factor complex helicase subunit;TFIIH p80;basic transcription factor 2 80 kDa subunit;xeroderma pigmentosum complementary group D;xeroderma pigmentosum group D-complementing protein APPROVED protein-coding ENSG00000104884 3434 00530 126340;278730;601675;610756 REVIEWED 730898 EREG epiregulin Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. [provided by RefSeq, Jul 2008] 4 4 q13.3 75449724 75473341 + 75230860 75254477 + 1580863;2317963;6480464;6484113;6907045 15982853 19138957;10681561;9419975;14581411;9337852;9990076;12702554;12898511;18948081;18835871;18497965;18292222;18079685;17962208;17429393;16888076;15474502;15274392;14572630;12477932;9553109;18821565;21161326;21769422;23671122;22170233;22508389;22747683;23074094;22916037 2069 O14944 ABBA01022994;AC021180;AK314959;AMYH01014303;BC035806;BC136404;BC136405;CH471057;CR541887;D30783;NM_001432 AAI36405;AAI36406;BAA22146;BAG37463;CAG46685;EAX05709;NP_001423;O14944 Hs.115263 2108065;2117724;2187452;5015619;5037552 D11S3114;D8S2279;EREG__7602;SHGC-56714;SHGC-67955 ER OTTHUMP00000160472;proepiregulin APPROVED protein-coding ENSG00000124882 3443 03638 602061 VALIDATED 1606875 ERCC6L2 excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 9 9 9 q22.32 69079501 69172730 + 97677721 97770943 + 98637900 98731122 + 6480464 16344560;14702039;12477932;11181995;17207965 375748 A4D997;F2Z2R4;H0Y3T7;H7BXQ9;Q5T890 ABBA01043604;AK095025;AK307504;AK308131;AK308409;AL133663;AL161454;AL389952;AL389953;AMYH01021542;BC022957;BC035183;BC075860;BC140702;BC144261;BG108141;BQ013632;CA425791;CF529128;CH471174;DB153432;NM_001010895 A4D997;AAH22957;AAH35183;AAI40703;ADQ32469;BAC04478;CAB97530;CAB97543;EAW92635;EAW92636;EAW92637;EAW92639;EAW92640;EAW92641;NP_001010895;Q5T890 Hs.432364;Hs.732570 1669886;1677572;1688859;1699946;1739115;1855885;2127817;2127929;2128281 D9S1628;RH103581;RH93909;RH94175;SHGC-30570;SHGC-57426;SHGC-57584;STS-N32566;U57804 C9orf102;FLJ37706;MGC30192;MGC43364;RAD26L;SR278 OTTHUMP00000021714;RAD26L hypothetical protein;RAD26L hypothetical protein; stretch responsive protein 278;putative DNA repair and recombination protein RAD26-like;putative repair and recombination helicase RAD26L;stretch responsive protein 278 APPROVED protein-coding ENSG00000182150 26922 17362 VALIDATED 1601889 ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. [provided by RefSeq, Jul 2008] 5 5 q12.1 60205415 60276648 - 60169659 60240905 - 6480464;6907045;7240710;7246919;7246923 22824526;18166977 17297471;20100872;8999876;16916636;12732143;11782547;18708399;18270339;17996703;17242193;16751180;16344560;16246722;15744458;15489334;14702039;14661080;12477932;10944529;9250659;8876179;8596535;7664335;11313499;16169070;16949367;17392787;19237606;19615732;19894250;20496165;20522537;20575039;21108394;22902626;20360068;21550341;20541997;21900206;21906983;22232169;22032989;20301516;21145461;12549820;19295130 1161 B3KPW7;B4DGZ9;C9JNT2;G3XAG7;Q13216 ABBA01015806;AC022445;AC104113;AK022657;AK056931;AK226129;AK290726;AK294856;AK304610;AK314511;AL691658;AMYH01015111;AMYH01015112;AY213194;BC009793;BC093802;BC112227;BT020021;CH471123;CR536563;DA169067;NG_009289;NM_000082;U28413 AAA82605;AAH09793;AAO21128;AAV38824;BAF83415;BAG37111;BAG51829;BAG57960;BAG65395;CAG38800;EAW55003;EAW55004;EAW55005;NP_000073;Q13216 Hs.435237 1676844;1694510;1792880;2106995;2118549;2118909;2123039;2151064;2151716;2220548;5022578;5022588;5491854 CKN1__4579;D1S1423;D5S1597E;ERCC8;G16887;G42997;PMC166200P3;RH18023;RH66055;RH79137;RH92349;STS-N49276;UniSTS:484387 CKN1;CSA;UVSS2 Cockayne syndrome WD-repeat protein CSA;DNA excision repair protein ERCC-8;OTTHUMP00000123367;cockayne syndrome WD repeat protein CSA APPROVED protein-coding ENSG00000049167 3439 07523 216400;609412;614621 REVIEWED 1348469 ERG v-ets avian erythroblastosis virus E26 oncogene homolog This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2012] 21 21 q22.3 38675671 38955488 - 39739183 40033704 - 1580863;6480464 8040301;21623182;21677539;11791185;8502479;3476934;19359602;19339269;19223501;19205910;19190343;19156837;19151660;19147579;19040532;19029822;18922926;18694509;18676740;18648544;18519826;18519769;18519767;18505969;18483239;18474293;18195090;18065961;17654723;17646667;17632455;17584912;17390040;17143509;17032499;16954520;16820092;16575875;16381901;16344560;16303180;16275934;16215946;16140924;15988032;15922298;15489336;15302935;15068237;14693372;12554743;12477932;12449421;11472898;11278640;11076863;10949935;10830953;10574717;9681824;9334186;8510931;8290279;8187069;8076344;17922029;3299708;3274086;20662065;22313860;22767266;22488406;20526358;23578236;20546020;20713528;20676125;20473283;20651988;20442300;20966395;21040948;20585344;19555438;20562851;19716227;17289661;19396154;19407851;19465903;19494719;19584163;19647299;19649210;19664128;19825963;19933109;20018353;20068566;20104229;20118910;20160063;20303538;20308669;20308673;20379614;20478527;20800881;21062978;20693982;20841507;21167530;20570349;20590547;21169414;21242973;21383613;21183741;21676887;21584900;20860828;20798944;21170267;21317715;21178509;21738478;21249148;21707844;22696228;22736790;21474234;21559405;23380710;23703293;21536859;21832049;21791629;21669963;21664289;21743959;21499238;21463633;21680704;21835957;22463702;23250622;23327922;23426182;21743434;21802835;22076164;21946329;22300588;22993300;22235125;22245323;22221250;21937078;22080055;22337883;19940115;21575865;21731703;22615383;22745159;22674214;22716285;22860005;23352841;23390522;23447416;22930729;22922762;23027626;22705054;22899295;23334893;23158212;23480797;22821757;22886792;23319146;23319000;22505341;22331093 2078 A8MX39;A8MZ24;B4DN83;B4DVX5;B4E3C5;B5MDW0;P11308 AA706319;ABBA01011092;ABBA01011093;ABBA01011094;ABBA01011095;AF015313;AK297807;AK300395;AK301277;AK303518;AK304662;AK309469;AMYH01012239;AMYH01012240;AP001035;AP001036;AP001037;AP001038;AP001422;AP001423;AP001426;AY204740;AY204741;AY204742;AY204743;BC040168;BE245360;BF431907;CH471079;DA850637;DC394344;DQ831522;EU090248;JA902565;M17254;M21535;M21536;NG_029732;NM_001136154;NM_001136155;NM_001243428;NM_001243429;NM_001243432;NM_004449;NM_182918;R82102;S68130 AAA35811;AAA52398;AAB29724;AAB65763;AAH40168;AAP41719;AAP41720;ABZ91999;BAG60145;BAG62127;BAG62837;BAG64546;BAG65437;CAL37450;CCV19969;EAX09679;EAX09680;NP_001129626;NP_001129627;NP_001230357;NP_001230358;NP_001230361;NP_004440;NP_891548;P11308 Hs.473819 1334789;1649498;1650714;1653645;1669401;1679920;1680535;1683835;1685141;1699638;1707270;1714225;1720347;1730680;1741781;1741783;1741785;1741787;1741789;1742135;1751229;1755975;1774178;1775276;1778041;1854423;2113696;2118853;2126146;2137732;2142043;2143315;2147694;2152388;2160295;2167748;2172578;5095044;7186261 CH241-100G23_SP6;D21S1255;D21S1809;D21S338;G29039;G29040;G29051;G34653;G35296;GDB:185165;GDB:185166;GDB:185167;GDB:185168;GDB:185169;GDB:192319;MMA2H11;RH103423;RH119723;RH123924;RH17674;RH76199;RH93894;RH98520;SHGC-105119;SHGC-11415;SHGC-11417;SHGC-11418;SHGC-11419;SHGC-11422;SHGC-11424;SHGC-11425;SHGC-11427;SHGC-142795;SHGC-52002;SHGC-52106;SHGC-52107;SHGC-79236;SHGC-9585 erg-3;p55 OTTHUMP00000115966;OTTHUMP00000115967;OTTHUMP00000115968;OTTHUMP00000115969;OTTHUMP00000115970;OTTHUMP00000115971;OTTHUMP00000115972;OTTHUMP00000208036;OTTHUMP00000225518;TMPRSS2-ERG prostate cancer specific;TMPRSS2/ERG fusion;ets-related;transcriptional regulator ERG;transcriptional regulator ERG (transforming protein ERG);transforming protein ERG;v-ets avian erythroblastosis virus E26 oncogene related;v-ets erythroblastosis virus E26 oncogene homolog;v-ets erythroblastosis virus E26 oncogene like;v-ets erythroblastosis virus e26 oncogene like (avian) APPROVED protein-coding ENSG00000157554 3446 01298 165080 REVIEWED 6480990 ERHP2 enhancer of rudimentary homolog (Drosophila) pseudogene 2 6 53881282 53881575 - 100874403 ABBA01050522;AL139389;AMYH01016361;NG_032374 pseudo 41917 INFERRED 5132500 ERHP1 enhancer of rudimentary homolog (Drosophila) pseudogene 1 7 q34 139218940 139219707 + 12853948 100507125 AACC02000024;ABBA01001194;AC005531;AMYH01017977;CH236950;NG_029010 pseudo 41916 INFERRED 1323738 ERF Ets2 repressor factor Members of the ETS family of transcription factors, such as ERF, regulate cell proliferation and differentiation. They share a highly conserved DNA-binding domain, the ETS domain, that recognizes the sequence GGAA/T (de Castro et al., 1997 [PubMed 9192842]). For further information on ETS transcription factors, see ETS1 (MIM 164720).[supplied by OMIM, Mar 2008] 19 19 q13 47443557 47451149 - 42751717 42759309 - 1580863;6480464;7240710 11748221;7588608;17699159;17525531;17081983;16964243;15489334;15057824;14729966;14678752;14611815;12533699;12477932;12062430;10330152;9192842;9136988;22990118;19471022;21890473;22198386;23000965;23354439 2077 B7Z4R0;M0QX79;M0QXN0;P50548 AB209271;ABBA01040842;ABBA01040843;AC006486;AK297666;AK300627;AK314278;AMYH01009827;AMYH01009828;AMYH01009829;BC022231;BM905776;CH471126;DC299706;NM_006494;U15655;U58535 AAA86686;AAD11987;AAH22231;ABM84494;ABM87816;BAD92508;BAG36938;BAH12646;BAH13317;EAW57116;EAW57117;EAW57118;NP_006485;P50548 Hs.655969 1648244;1677716;2107061;2131552 ERF__7603;RH11603;RH79119;RH80814 CRS4;PE-2;PE2 ETS domain-containing transcription factor ERF APPROVED protein-coding ENSG00000105722 3444 09942 600775;611888 VALIDATED 1607015 ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168294145 168412842 + 172193947 172312292 + 172261223 172379688 + 6480464 15308636;15489334;14702039;12477932;11230166;10931946;10574461;19724895;19851296;20198315;20379614;22939629;18781797;22761906;21139048;21890473;21906983;21963094;22190034 57222 F2Z2P5;F2Z2U2;F2Z3A2;F2Z3Q5;H0YAV2;H0YBZ3;Q969X5 AB033007;ABBA01044036;ABBA01044037;ABBA01044038;AC008429;AC110011;AF267855;AK000752;AK026049;AK027085;AK097183;AK303453;AL133060;AL136753;AMYH01015819;AMYH01015820;BC012766;BC014490;CD365875;CH471062;CR533474;DB443891;NM_001031711 AAG44724;AAH12766;AAH14490;BAA86495;BAG64498;CAB66687;CAG38505;EAW61422;EAW61423;NP_001026881;Q969X5 Hs.509163 1671449;1671451;1740359;1740387;1740501;1757979;1780550;1855163;2114473;5016478;5022200 A006I32;D21S1804;D5S2190E;D5S2211E;D5S2294E;G20852;GDB:434012;L18426;RH69563;SHGC-147022;bac51086S ERGIC-32;ERGIC32;FLJ39864;KIAA1181;MGC14345;NET24 ER-Golgi intermediate compartment 32 kDa protein;OTTHUMP00000161076;endoplasmic reticulum-Golgi intermediate compartment protein 1;endoplasmic reticulum-golgi intermediate compartment 32 kDa protein APPROVED protein-coding ENSG00000113719 29205 13836 REVIEWED 6481108 ERI3-IT1 ERI3 intronic transcript 1 (non-protein coding) 100874278 AL035417 miscrna 41431 1605678 ERGIC2 ERGIC and golgi 2 ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008] 12 12 12 p11.22 34639329 34679889 - 29384846 29425410 - 29493579 29534143 - 6480464 15308636;17980171;16989575;15489334;14702039;12932305;12477932;11445006;8889548;8125298;20360068;21139048;21890473;21906983;22190034 51290 F8VPA6;F8VR88;F8VRW9;F8VUZ2;F8W0R1;H0YHJ8;H0YHS0;H0YI50;H0YI58;Q86TD3;Q96RQ1 ABBA01068072;ABBA01068073;ABBA01068074;AC009318;AF183410;AF216751;AF302767;AK074520;AK222799;AL834128;AMYH01004357;BC000887;BC064522;BC107794;BF681475;BI547753;BU675240;CH471094;CQ782452;NM_016570 AAF61208;AAG09679;AAH00887;AAI07795;AAK77355;ABZ92333;BAC11037;BAD96519;CAD89902;CAF85738;EAW96592;EAW96593;EAW96594;NP_057654;Q96RQ1 Hs.339453 1657471;1678883;1685792;1699138;1700296;1789086;2109713;2186585;5022651;5096039;5124844 D11S2921;D12S2012;D5S2655;G65678;PTX1_9699;RH103145;RH103767;RH39806;RH91177;RH93315;STS-AA019731 CDA14;Erv41;MGC111152;PTX1;cd002 CD14 protein;OTTHUMP00000240789;OTTHUMP00000240795;endoplasmic reticulum-Golgi intermediate compartment protein 2 APPROVED protein-coding 30208 17932 612236 VALIDATED 1605306 ERI2 ERI1 exoribonuclease family member 2 16 16 16 p12.3 20101413 20127694 - 20699016 20725296 - 20791515 20817795 - 6480464 17135487;12477932;10819331;19913121;20628086 112479 A8K979;H3BN77 AB040937;ABBA01028286;ABBA01028287;AC004381;AK127391;AK292594;AK304347;AMYH01007345;BC010503;BX437401;CH471228;NM_001142725;NM_080663 A8K979;AAC31669;AAH10503;ABM85927;ABM85928;BAA96028;BAC86956;BAF85283;BAG65191;EAW66836;EAW66837;NP_001136197;NP_542394 Hs.248437 1651177;1669992;1695482 SHGC-60682;SHGC-60770;SHGC-68627 EXOD1;KIAA1504;MGC16943 ERI1 exoribonuclease 2;OTTHUMP00000162295;enhanced RNAi three prime mRNA exonuclease homolog 2;exonuclease domain containing 1;exonuclease domain-containing protein 1;exoribonuclease 2 APPROVED protein-coding ENSG00000196678 30541 14456 VALIDATED 1317746 ERGIC3 ERGIC and golgi 3 20 20 20 pter-q12 30878102 30893718 + 33593192 33608819 + 34129778 34145405 + 1580863;6480464 15308636;17020792;16303743;15489334;14702039;12747765;12477932;11780052;10810093;17207965;22939629;18781797;21139048;21890473;21906983;20686565;21963094;23000965;23212913;23374247;22190034 51614 A2TJK5;A6PVJ2;E9PFA8;H0Y5K5;H0Y621;H0Y6Z0;H0Y802;H7BXI5;Q9Y282 ABBA01019157;ABBA01019158;AF077030;AF091085;AF116614;AF151812;AF308298;AK074550;AK096484;AK300916;AL121586;AL161963;AMYH01011874;BC009765;BC014014;BU528333;CA489637;CH471077;EF206690;NM_015966;NM_198398 AAC72954;AAD27763;AAD34049;AAF71038;AAG48265;AAH09765;AAH14014;ABM92879;ADQ32757;BAC11054;BAG62548;CAB89412;CAI42842;CAI42843;CAI42845;CAO03348;CAO03349;EAW76199;EAW76200;NP_057050;NP_938408;Q9Y282 Hs.472558 1651838;1682345;1693524;1802004;1818410;1818920;1820102;1824768;1826850;1827368;1831910;1833018;1833986;1836450;1843576;1974518;1974520;1974522;1974524;1974526;1974528;1974530;1974532;1974534;1974536;1974538;1974540;1974542;1974544;1974546;1974548;1974550;1974552;1974554;1974556;1974558;1974560;1974562;1974564;1974566;1974568;1974570;1974572;1974574;1974576;1974578;1974580;1974582;1974584;1974586;1974588;1974590;1974592;1974594;1974596;1974598;1974600;1974602;1974604;1974606;1974608;1974610;1974612;1974614;1974616;1974618;1974620;1974622;1974624;1974626;1974628;1974630;1974632;1974634;1974636;1974638;1974640;1974642;1974644;1974646;1974648;1974650;1974652;1974654;1974656;1974658;2132187;2191535;2215406;2215408;2215410;2215412;2215414;2215416;2215418;2215420;2215422;5015619;5024413 D11S3114;D20S1029;ECD01883;ECD10263;ECD10524;ECD11124;ECD13482;ECD14540;ECD14799;ECD17093;ECD17650;ECD18140;ECD19387;ECD22997;L17877;MARC_26120-26121:1030366872:1;REN58145;REN58146;REN58147;REN58148;REN58149;REN58150;REN58151;REN58152;REN58153;REN58154;REN58155;REN58156;REN58157;REN58158;REN58159;REN58160;REN58161;REN58162;REN58163;REN58164;REN58165;REN58166;REN58167;REN58168;REN58169;REN58170;REN58171;REN58172;REN58173;REN58174;REN58175;REN58176;REN58177;REN58178;REN58179;REN58180;REN58181;REN58182;REN58183;REN58184;REN58185;REN58186;REN58187;REN58188;REN58189;REN58190;REN58191;REN58192;REN58193;REN58194;REN58195;REN58196;REN58197;REN58198;REN58199;REN58200;REN58201;REN58202;REN58203;REN58204;REN58205;REN58206;REN58207;REN58208;REN58209;REN58210;REN58211;REN58212;REN58213;REN58214;REN58215;RH93363;SHGC-58582;STS-R93394;stSG636694;stSG636695;stSG636696;stSG636697;stSG636698;stSG636699;stSG636700;stSG636701;stSG636702 C20orf47;CGI-54;Erv46;NY-BR-84;PRO0989;SDBCAG84;dJ477O4.2 OTTHUMP00000030758;OTTHUMP00000030760;OTTHUMP00000030762;OTTHUMP00000196100;endoplasmic reticulum-Golgi intermediate compartment protein 3;endoplasmic reticulum-localized protein ERp43;serologically defined breast cancer antigen 84;serologically defined breast cancer antigen NY-BR-84 protein-coding ENSG00000125991 15927 15306 VALIDATED 1320463 ERH enhancer of rudimentary homolog (Drosophila) 14 14 q24.1 68916598 68934774 - 69846840 69865021 - 6480464 15670829;17353931;9074495;8786099;18029348;18500978;18081865;17444515;16169070;15794639;15635413;15489334;12477932;21319273;22704934;15166316;19710015;22990118;23022380;20811636;21832049;23145069;19928837;20360068;21139048;21890473;21900206;21906983;17620599;19322201;20564261;23000965;23084401;23246001;23455922;22174317;22505724;23236152 2079 G3V279;P84090 ABBA01030829;ABBA01030830;AK130850;AK312186;AL157996;AMYH01005825;BC014301;BC071709;BT006877;CH471061;CR450298;CR542178;D85758;NM_004450;U66871 AAC51172;AAH14301;AAH71709;AAP35523;BAA12865;BAG35119;CAG29294;CAG46975;EAW80989;EAW80990;NP_004441;P84090 Hs.509791 1669137;2142528 D14S1224;RH65950 DROER;FLJ27340 OTTHUMP00000245828;OTTHUMP00000245829;enhancer of rudimentary homolog protein-coding 3447 09026 601191 VALIDATED 2816356 ERLEC1P1 endoplasmic reticulum lectin 1 pseudogene 1 21 21 q11.2 608528 674013 + 15451295 15516788 + 100288870 ABBA01057079;ABBA01057080;ABBA01057081;ABBA01057082;ABBA01057083;AMYH01012140;AP001347;NG_022985 1689185;1730664;1787586;2128072 D21S1993;D21S329;RH91932;SHGC-155914 pseudo 38012 INFERRED 1318310 ERI3 ERI1 exoribonuclease family member 3 1 1 1 p32 42970065 43104133 - 44459329 44593526 - 44686742 44820939 - 6480464 16344560;12477932;11571277;9110174;8619474;19913121;20628086;22939629;21139048;21890473;21906983 79033 B4DEX5;F6QUN3;F6UGJ8;H0Y4B0;O43414 ABBA01050925;ABBA01050926;ABBA01050927;ABBA01050928;ABBA01050929;AC004254;AF007157;AK026596;AK290567;AK293833;AK297708;AL035417;AL390776;AMYH01000566;AU125565;BC001072;BC004456;BC144384;BG323839;CH471059;NM_024066 AAC04618;AAC19158;AAH01072;AAH04456;AAI56813;BAF83256;BAG57236;BAG60065;EAX07042;EAX07043;EAX07044;EAX07045;NP_076971;O43414 Hs.731413 1668296;1684983;1712050;1720369;1732794;1732906;1767285;1854580;2127035;2142384;2154782;7186682 AL009982;D1S1251;D1S1317;D1S190;G16324;G34816;G54005;RH123936;RH47461;RH65633;RH93060 FLJ22943;MGC2683;PINT1;PRNPIP ERI1 exoribonuclease 3;H_RG158K20.1;OTTHUMP00000008952;OTTHUMP00000008953;OTTHUMP00000008983;OTTHUMP00000008984;WUGSC:H_RG158K20.1;enhanced RNAi three prime mRNA exonuclease homolog 3;exoribonuclease 3;prion interactor 1;prion protein interacting protein;prion protein-interacting protein APPROVED protein-coding ENSG00000117419 17276 15175 609917 VALIDATED 6903373 ERICH2 glutamate-rich 2 2 q31.1 171640296 171655481 + 12477932 285141 A1L162 AA401652;ABBA01014918;AC007405;AMYH01011258;AX972293;BC127676;BC150546;BQ269226;CH471058;NR_046247;NR_046248;XM_001714892;XM_003960300;XM_209489 A1L162;AAI27677;AAI50547;CAF17401;EAX11231;XP_001714944;XP_003960349;XP_209489 Hs.443729;Hs.567958 glutamate-rich protein 2;uncharacterized protein LOC285141 protein-coding ENSG00000204334;ENSG00000239467 44395 MODEL 1605450 ERICH1-AS1 ERICH1 antisense RNA 1 8 8 8 p23.3 797314 1220959 + 677651 1250805 + 677651 1250805 + 12477932 619343 P0C838 AC026950;AC100797;AC110288;AC120035;AC129915;AF067845;BC022082;BC038783;HY026606;HY053749;NR_073397;NR_073466;XM_001719813;XM_927505 P0C838;XP_001719865;XP_932598 Hs.667939;Hs.722154 1335717;1658944;1697324;1707642;1709676;1716007;1730922;1765747;1786692;2129295;2150965 D8S462;D8S504;D8S7;RH102159;RH122747;SHGC-149177;SHGC-154284;SHGC-81982;SHGC-86323;STS-R36869;WI-21091 C8orf68 ERICH1 antisense RNA 1;ERICH1 antisense RNA 1 (non-protein coding);chromosome 8 open reading frame 68 APPROVED miscrna 32290 VALIDATED 1605015 ERI1 exoribonuclease 1 8 8 8 p23.1 7988552 8019088 + 8897860 8925899 + 8860314 8890849 + 6480464 14536070;17135487;16912046;15489334;15451662;14961122;12477932;18172165;20379614;23329046;22863883;21139048;21890473;21906983;22379092;21963094;23049088;22505724 90459 E5RIV7;E5RJM3;Q8IV48 ABBA01026910;AC087579;AC087763;AK024646;AK226180;AK291062;AK301506;AL137679;AMYH01018465;AV709794;AY310909;BC035279;CH471157;NM_153332 AAH35279;AAQ21219;ABM81767;ABM84922;BAF83751;BAG63016;CAB70871;EAW65568;EAW65569;EAW65570;NP_699163;Q8IV48 Hs.20000 1679738;2118365;5020948 G35510;RH92586;STS-W44566 3'HEXO;HEXO;MGC35395;THEX1 3' exoribonuclease;3'-5' exonuclease ERI1;3'-5' exoribonuclease 1;Eri-1 homolog;OTTHUMP00000159677;OTTHUMP00000224524;enhanced RNAi three prime mRNA exonuclease homolog 1;histone mRNA 3' end-specific exonuclease;histone mRNA 3'-end-specific exoribonuclease;histone mRNA 3'-exonuclease 1;protein 3'hExo;three prime histone mRNA exonuclease 1;three prime mRNA exonuclease 1 protein-coding ENSG00000104626 23994 11784 608739 VALIDATED 1318095 ERMN ermin, ERM-like protein 2 2 2 q24.1 151788269 151797290 - 157883371 157892392 - 158175125 158184146 - 737633;1580863;6480464 12477932 19165527;19034380;16421295;16051705;10574461;20468071;17207965;20934411;21832049;19953087 57471 B4DIZ1;B4DKB4;B8ZZ94;C9J6B4;C9J8X3;C9JN04;F8WAQ2;Q8TAM6 AA736604;AB033015;ABBA01004843;AC016732;AI207881;AK295844;AK296477;AK296489;AMYH01011196;AV727436;BC026345;BI598234;CH471058;DQ334271;NM_001009959;NM_020711 AAH26345;AAY14889;ABC67251;ADQ31876;BAA86503;BAG58653;BAG59118;BAG59126;EAX11448;NP_001009959;NP_065762;Q8TAM6 Hs.443894 1679361 RH94328 JN;KIAA1189;ermin OTTHUMP00000204459;OTTHUMP00000204460;OTTHUMP00000204461;OTTHUMP00000204462;OTTHUMP00000204465;OTTHUMP00000206007;ermin;juxtanodin protein-coding ENSG00000136541 29208 13838 610072 VALIDATED 1602977 ERICH1 glutamate-rich 1 8 8 8 p23.3 579581 644934 - 604200 671226 - 614200 681226 - 6480464 18029348;15489334;14702039;12477932;21139048;21693764 157697 E5RHA3;H0YB25;H0YBT6;Q86X53 ABBA01007280;ABBA01007281;AC090691;AC100797;AF161437;AK055649;AK125470;AK290264;AK297476;AL833324;AMYH01018268;BC016017;BC046243;BX647093;CH471181;NM_207332 AAF28997;AAH46243;ACE86757;ACE87445;BAF82953;BAG59897;EAW51465;EAW51466;EAW51467;NP_997215;Q86X53 Hs.655310 1666478;1680721;1699284;1786748 RH103225;RH68120;RH92239;SHGC-155342 HSPC319 OTTHUMP00000159439;glutamate-rich protein 1 protein-coding ENSG00000104714 27234 14105 PROVISIONAL 1315163 ERLEC1 endoplasmic reticulum lectin 1 This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011] 2 2 p16.2 53867721 53899437 + 54014068 54045956 + 6480464;6907045 18502753;18264092;16531414;15815621;15489334;14702039;12975309;12477932;9110174;8619474;19917667;21118962;21062743;23356641;18538572;20816211;21723917;21404621;22939629;21906983;23097496;21963094;21917589;22190034 27248 Q96DZ1 AA687108;ABBA01075237;AC007883;AF131743;AF131849;AK001913;AK315477;AMYH01010355;AY358717;AY453410;BC013129;BC022228;BQ017438;BU784879;CH471053;DB451941;DB539199;NG_029742;NM_001127397;NM_001127398;NM_015701 AAD20029;AAD20060;AAH13129;AAH22228;AAQ89079;AAR26725;AAY24352;ABM85688;BAA91974;BAG37861;EAX00163;EAX00164;EAX00165;EAX00166;NP_001120869;NP_001120870;NP_056516;Q96DZ1 Hs.438336;Hs.713845 1666020;1850234;2131081;2190555 A002T41;EST26H8;G31468;WI-15186 C2orf30;CIM;CL24936;CL25084;XTP3-B;XTP3TPB ER lectin;OTTHUMP00000159609;OTTHUMP00000200603;OTTHUMP00000200604;XTP3-transactivated gene B protein;XTP3-transactivated protein B;cancer invasion and metastasis-related;endoplasmic reticulum lectin 1;erlectin 1 APPROVED protein-coding ENSG00000068912 25222 10310 611229 REVIEWED 1320643 ERMAP erythroblast membrane-associated protein (Scianna blood group) The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p34.2 43055363 43083247 + 43282776 43310660 + 1580863;6480464 15469845;11549310;16710414;16371048;15783300;15660834;15489334;14702039;12477932;12393480;11783959;6459052;118583;18426659;19856728;22939629 114625 Q96PL6;Q9P148 ABBA01050971;AF119899;AF311284;AF311285;AJ505027;AJ505028;AJ505029;AJ505030;AJ505031;AJ505032;AJ505033;AJ505034;AJ505035;AJ505036;AJ505044;AK056138;AK125447;AK295704;AK314436;AL512353;AMYH01000555;AY049028;AY644424;BC031548;BC099703;BC099707;BC099712;BC099713;BX507568;BX537371;CH471059;DQ090843;NG_008749;NM_001017922;NM_018538 AAF69653;AAH99703;AAH99707;AAH99712;AAH99713;AAL08411;AAL08412;AAL11456;AAT66409;AAY88736;BAH12162;CAD43739;CAD43740;CAD43741;CAD97613;EAX07130;EAX07131;EAX07132;EAX07133;NP_001017922;NP_061008;Q96PL5 Hs.439437 1681360;2108067;2138285;2156383;5037552 AL010112;D8S2279;ERMAP_8126;RH79724;SHGC-74678 MGC118810;MGC118811;MGC118812;MGC118813;PRO2801;RD;SC OTTHUMP00000008916;OTTHUMP00000008917;OTTHUMP00000008918;Radin blood group (Rd);Scianna blood group (Sc);erythroblast membrane-associated protein;erythroid membrane-associated protein;hERMAP;radin blood group antigen;scianna blood group antigen APPROVED protein-coding ENSG00000164010 15743 12355 111620;111750;609017 REVIEWED 1346348 ERN2 endoplasmic reticulum to nucleus signaling 2 16 16 16 p12.2 22479794 22502990 - 23609126 23632322 - 23701625 23724821 - 6480464 11175748;18242182;16973740;14702039;10619423;9755171;8889548;19913121;20628086;20379614;21146530;23236464 10595 E7ETG2;H3BSU1;H3BTW8;H3BUU2;Q76MJ5 AB047079;ABBA01017072;AC008870;AC012317;AK131280;AK309313;AK310834;AMYH01007384;BU608100;CH471145;EF560720;EF560739;NM_033266 AAI56239;AAI57114;ABQ59030;ABQ59049;ACT64383;ACT64384;BAB21297;BAD18455;EAW55802;NP_150296;Q76MJ5 Hs.592041 1771354;2109291;2109673;5022200 ERN2_9151;G06491;L18426;PLK1_8546 IRE1-BETA;IRE1b ER to nucleus signalling 2;IRE1 beta;IRE1, S. cerevisiae, homolog of;endoplasmic reticulum to nucleus signalling 2;endoplasmic reticulum-to-nucleus signaling 2;hIRE2p;inositol-requiring 1 beta;inositol-requiring protein 2;ire1-beta;serine/threonine-protein kinase/endoribonuclease IRE2 protein-coding ENSG00000134398 16942 04944 604034 VALIDATED 1605125 ERN1 endoplasmic reticulum to nucleus signaling 1 The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. [provided by RefSeq, Jul 2008] 17 17 q24.2 59474122 59561234 - 62120390 62207502 - 6480464;6907045 9637683;12637535;19135427;18840095;18242182;18065414;17991856;17638880;17585877;16645094;16344560;16107700;15234121;15063770;14702039;12843613;12477932;12446770;12050113;11897784;11850408;11278723;11175748;10737800;10650002;10587643;18369366;19913121;20628086;20013084;20702765;20625543;20798350;20819778;16680093;20007910;20103773;20379614;20965234;20447464;23103912;22917505;21385877;21680894;21525936;21954231;21482118;22199355;22314839;17951406;22219383;22446326;22194594;22315414;23041190;23598528;23110043;23001845;23363253;23575540;22718352;21118962;23042294;22787145 2081 O75460 AB209869;ABBA01035309;ABBA01035310;ABBA01035311;AC005803;AC025362;AF059198;AI791744;AI792619;AK055561;AK292403;AL698247;AMYH01008552;BC130405;BC130407;BF817483;BF846361;CH471109;DB128514;NM_001433 AAC25991;AAI30406;AAI30408;BAD93106;BAF85092;EAW94213;EAW94214;NP_001424;O75460 Hs.133982;Hs.700027 1787868;2148705;2172678 G10027;RH47240;SHGC-173528 FLJ30999;IRE1;IRE1P;IRE1a;MGC163277;MGC163279;hIRE1p ER to nucleus signalling 1;endoplasmic reticulum-to-nucleus signaling 1;inositol-requiring 1;inositol-requiring enzyme 1;inositol-requiring protein 1;ire1-alpha;protein kinase/endoribonuclease;serine/threonine-protein kinase/endoribonuclease IRE1 APPROVED protein-coding ENSG00000178607 3449 04943 604033 REVIEWED 1348332 ERMP1 endoplasmic reticulum metallopeptidase 1 9 9 9 p24 5722060 5770569 - 5774572 5823081 - 5784572 5833081 - 6480464 17267443;15489334;15146197;14702039;12477932;11347906;19322201;21906983;21963094;22797925 79956 B3KSB1;E7ER77;Q6ZMD3;Q7Z2K6 AB058718;ABBA01065409;ABBA01065410;AK026962;AK093217;AK127218;AK172831;AL136980;AL365360;AL834191;AMYH01019203;AW295384;BC031630;BC136771;BC136773;BC144404;CH471071;CN390893;NM_024896 AAH31630;AAI36772;AAI36774;BAB15604;BAB47444;BAD18796;BAG52673;BAG54455;EAW58757;EAW58758;NP_079172;Q7Z2K6 Hs.591078 1648196;1853592;2119331 RH67989;SHGC-54206;WI-15054 FXNA;KIAA1815;bA207C16.3 Felix-ina;OTTHUMP00000215015;OTTHUMP00000215016;OTTHUMP00000215017;aminopeptidase Fxna;bA207C16.3 (novel protein similar to predicted yeast, plant and worm proteins);endoplasmic reticulum metallopeptidase 1 protein-coding ENSG00000099219 23703 17227 611156 VALIDATED 4144670 ERP29P1 endoplasmic reticulum lumenal protein 29 pseudogene 1 20 20 20 47431242 47432393 + 50160190 50161177 + 50726886 50727670 - 100420612 ABBA01052829;AL109984;AMYH01011989;NG_024987 2148396 SHGC-31784 ERP28P pseudo 24625 INFERRED 1344396 ERLIN1 ER lipid raft associated 1 10 10 10 q21-q22 95647790 95683757 - 101899837 101935804 - 101909847 101945814 - 1580863;6480464 20471030;16835267;18940312;15489334;15342556;15164054;14702039;12477932;11118313;8125298;18029348;19240031;19751772;20379614;21048031;22939629;16196087;18468998;21343306;21987572;21139048;21890473;21906983;17110338;23400010;22268729 10613 B0QZ43;D3DR65;O75477 ABBA01063229;AF064093;AK056574;AK127017;AK222480;AK298427;AK315580;AL138921;AMYH01002997;BC031791;BP280488;BQ101058;BU192550;CH471066;NM_001100626;NM_006459 AAC26658;AAH31791;ABM85458;ABW03724;BAD96200;BAG37953;BAG60649;EAW49846;EAW49847;NP_001094096;NP_006450;O75477 Hs.150087 1654473;1690063;1760193;1781996;2121489;2157480;2191623;5014051;5022651;5037552;5092748 A005X19;D11S2921;D8S2278;D8S2279;G32304;MARC_30139-30140:1041612477:1;RH25912;SHGC-132476;SHGC-145715;SHGC-32598;WI-16766 C10orf69;Erlin-1;KE04;KEO4;RP11-316M21.1;SPFH1 Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9;OTTHUMP00000020274;OTTHUMP00000020275;OTTHUMP00000197867;SPFH domain-containing protein 1;endoplasmic reticulum lipid raft-associated protein 1;erlin-1;stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1 protein-coding 16947 08502 611604 VALIDATED 1345502 ERPL1 endogenous retroviral pol gene-like sequence 1 (clone HLM2) 1pter-p36 1580863 3701934;2408338;2037294 2082 Q14272 M11348 AAA35813;Q14272 HLM2 protein-coding 3450 131190 1342913 ERPL2 endogenous retroviral pol gene-like sequence 2 5 q33.2 153998994 153999689 - 3701934 2083 AC112175;NG_003026 HLM-25 pseudo 3451 131180 1350824 ERLIN2 ER lipid raft associated 2 This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 8 8 8 p11.2 36546048 36567268 + 37713255 37734477 + 37594097 37615319 + 6480464;7240710 18029348;16835267;17502376;15897872;15489334;15342556;14702039;12975309;12477932;11256614;10449903;8889548;19240031;19751772;22681620;22939629;21330303;22360420;21343306;16196087;17558393;20186120;22354994;21139048;21906983;22118674;18468998;19322201;21796390;23109145;17110338;19738201;22678362;23085305;23190606;23246001;22771797;22268729;22797925;22690709 11160 E5RHW4;E5RJ09;O94905 AB018790;ABBA01023572;AC138356;AK057557;AK291394;AK297279;AL442077;AMYH01018650;AMYH01018651;AY358108;AY358851;BC005950;BC035980;BC048308;BC050611;BC067765;BI560439;BP353279;BP363612;BU608317;CH471080;NG_032059;NM_001003790;NM_001003791;NM_007175 AAH05950;AAH48308;AAH50611;AAH67765;AAQ88475;AAQ89210;BAA36845;BAF84083;BAG59750;CAC09443;EAW63365;EAW63366;NP_001003790;NP_001003791;NP_009106;O94905 Hs.705490 1675327;1680513;1759887;1856281;2147469;2168458;2169844;2191423;5015961;5095048 D15S1477;ERLIN2;G17213;MARC_21759-21760:1023907404:5;RH65346;RH80184;RH80675;SHGC-170127;STS-N24894;STS-T79168 C8orf2;Erlin-2;MGC87072;NET32;SPFH2;SPG18 OTTHUMP00000225546;OTTHUMP00000225547;OTTHUMP00000225548;OTTHUMP00000225549;OTTHUMP00000225550;OTTHUMP00000225551;OTTHUMP00000225552;OTTHUMP00000225599;SPFH domain-containing protein 2;endoplasmic reticulum lipid raft-associated protein 2;erlin-2;stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2 APPROVED protein-coding ENSG00000147475 1356 15437 611225;611605 REVIEWED 1343527 ERV1 endogenous retroviral sequence 1 p11.3-p11.21 7240710 6843662;6181510;3568764 2085 K02919 protein-coding 3453 613076 735473 ERP29 endoplasmic reticulum protein 29 This gene encodes a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 q24.13 110935535 110945407 + 112451152 112461024 + 6480464;6907045 9738895;18395818;17881435;17296603;17081065;17073718;17012915;16713569;16677078;15489334;12643545;12477932;12362325;12039039;11897809;11271497;9492298;8313870;1286669;19995400;21479953;20920593;19084538;19265690;19321666;19770839;21419175;20000738;21525008;22304920;22543584;23000965;21139048;21890473;22064321;22160175;21903368 10961 F8VY02;F8W1G0;P30040 AA412124;ABBA01019917;AC073575;AMYH01004754;BC101493;BC101495;BE794579;CH471054;CR541667;NM_001034025;NM_006817;X94910 AAI01494;AAI01496;CAA64397;CAG46468;EAW97990;EAW97991;EAW97992;NP_001029197;NP_006808;P30040 Hs.75841 2148396;5493507 SHGC-31784;UniSTS:486946 C12orf8;ERp28;ERp31;PDI-DB;PDIA9 OTTHUMP00000241751;OTTHUMP00000241752;endoplasmic reticulum lumenal protein ERp28;endoplasmic reticulum resident protein 28;endoplasmic reticulum resident protein 29;endoplasmic reticulum resident protein 31;endoplasmic retuclum protein 29;protein disulfide isomerase family A, member 9 APPROVED protein-coding ENSG00000089248 13799 03794 602287 REVIEWED 1349195 ERVE1 endogenous retroviral sequence E, 1 q11 11721880;11401426 85314 AB047241;AB047242 5020773 GDB:4585058 HERV-E1;HERVE1 protein-coding 14602 606601 1317870 ERO1L ERO1-like (S. cerevisiae) 14 14 q22.1 52178355 52232169 - 53108605 53162419 - 1580863;6480464;6907045 11707400;10671517;18971943;18833192;16677073;15592500;15489334;15475357;15161913;15136577;14517240;12975309;12752442;12477932;12403808;11847130;11707280;10970843;10818100;20095866;20562109;20130085;20802462;20834232;17207965;20186508;20657012;17170699;19766098;20379614;22863883;21398518;23027870;20000738;21757736;21854214;18781797;21139048;21906983;22268729 30001 G3V2H0;G3V3E6;G3V503;G3V5B3;Q96HE7 ABBA01018165;ABBA01018166;ABBA01018167;ABBA01018168;AF081886;AF123887;AK292839;AL133453;AMYH01005731;AY358463;BC008674;BC012941;CH471078;NM_014584 AAF06104;AAF35260;AAH08674;AAH12941;AAQ88828;ACT64506;ACT64507;ADQ32776;ADZ15385;BAF85528;EAW65646;EAW65647;NP_055399;Q96HE7 Hs.592304 2110385;2125033;2151247;5093214 ERO1L_9627;G32587;G36165;SHGC-57728 ERO1-alpha;ERO1A ERO1-L;ERO1-L-alpha;ERO1-like protein alpha;OTTHUMP00000178990;endoplasmic oxidoreductin-1-like protein;oxidoreductin-1-L-alpha protein-coding 13280 13278 PROVISIONAL 1344502 ERO1LB ERO1-like beta (S. cerevisiae) 1 1 q42.2-q43 234447083 234511908 - 236378422 236445339 - 6480464;6907045 10818100;18996753;18395550;16822866;16677073;16263699;16012172;15489334;15161913;14702039;12752442;12477932;11847130;11707400;19730683;20379614;21091435;17207965;22990118;21139048;22268729 56605 B4DF57;Q5T1H5;Q5TAE8;Q86YB8 ABBA01033155;ABBA01033156;AF252538;AK001865;AK293941;AK315351;AL139162;AL450309;AMYH01001856;AMYH01001857;BC032823;BC044573;BG723126;BX648202;CH471098;CR749523;NM_019891 AAF97547;AAH32823;AAH44573;ADQ32505;BAG37747;BAG57318;EAW70045;EAW70046;NP_063944;Q86YB8 Hs.558519 1661441;1668856;1692372;1779460;1792376;2177478 AL033832;PMC150226P1;SHGC-153442;SHGC-31075;SHGC-76542;SHGC-76552 DKFZp779C1042;DKFZp779I0141;FLJ11003 ERO1-L-beta;ERO1-like protein beta;OTTHUMP00000037860;endoplasmic oxidoreductin-1-like protein B;oxidoreductin-1-L-beta protein-coding ENSG00000086619 14355 13279 VALIDATED 1345054 ERV3-1 endogenous retrovirus group 3, member 1 The human genome includes many retroelements including the human endogenous retroviruses (HERVs). ERV3, one of the most studied HERVs, is thought to have integrated 30 to 40 million years ago and is present in higher primates with the exception of gorillas. Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. A functional role is also suggested by the observation that downregulation of ERV3 is reported in choriocarcinoma. [provided by RefSeq, Jul 2008] 7 7 q11.2 64088169 64090997 - 64450733 64467124 - 15994821;15081124;14557543;12970426;12853948;12083821;10894926;10692254;10427470;9525678;9458354;9209324;9209323;8592062;7716822;7645262;6505687;6495650;3840930;3356751;3346101;2884330;2115127;1783368;12477932;16344560;21542922;19540319 2086 Q14264 ABBA01027989;ABBA01027990;AC073210;AK074464;AK295189;AMYH01017438;BC063605;DA198800;K02271;M12140;NG_006928;NM_001007253 AAA88027;BAG58193;NP_001007254;Q14264 Hs.250693 1675453;2149199 RH70049;SHGC-32256 ERV-R;ERV3;ERVR;FLJ23884;H-PLK;HERV-R;HERVR;envR ERV-3 envelope protein;ERV-R envelope protein;ERV3-1 envelope protein;HERV-R envelope protein;HERV-R_7q21.2 provirus ancestral Env polyprotein;OTTHUMP00000228206;endogenous retroviral sequence 3 APPROVED protein-coding ENSG00000213462 3454 15919 131170 REVIEWED 1346512 ERVK2 endogenous retroviral sequence K(C4), 2 1580863 8281148 2087 O15309 X74612 5110678;5124113 RH67679;SGC35068 3455 1349231 ERVK3 endogenous retroviral sequence K(C4), 3 8281148 2088 X74613 3456 1344265 ERVK4 endogenous retroviral sequence K (G1), 4 60359 AB047209 13756 614011 1348397 ERVK5 endogenous retroviral sequence K (G2), 5 60358 P61583;Q9HDB8;Q9HDB9 13757 614012 1352633 ERVK6 endogenous retroviral sequence K, 6 10080172 64006 Q69383;Q69384;Q7LDI9;Q9BXR3;Q9WJR5;Q9Y6I0 AF074086;NM_001007236 5024374;5037634 D22S1651;D6S2277 13915 605626 1348523 ERVK7 endogenous retroviral sequence K, 7 (type 2) 10469592;11401426 449619 31828 614013 1605301 ERP27 endoplasmic reticulum protein 27 ERP27 is a noncatalytic member of the protein disulfide isomerase (PDI; see MIM 608012) family of endoplasmic reticulum (ER) proteins (Alanen et al., 2006 [PubMed 16940051]).[supplied by OMIM, Mar 2008] 12 12 12 p12.3 20211961 20236462 - 14958245 14982722 - 15066976 15091463 - 6480464 16940051;16713569;15489334;14702039;12975309;12477932;23192347;17207965;23234573 121506 F5GYS6;Q96DN0 ABBA01067886;ABBA01067887;AC007655;AK056677;AMYH01004304;AY358536;BC030218;CD389092;CH471094;NM_152321 AAH30218;AAQ88900;ADQ31581;BAB71251;EAW96335;NP_689534;Q96DN0 Hs.162143 1726091;1852478;2119287 G62298;SHGC-64293;STS-W86908 C12orf46;FLJ32115;PDIA8 ER protein 27;OTTHUMP00000239338;endoplasmic reticulum protein 27 kDa;endoplasmic reticulum resident protein 27;protein disulfide isomerase family A, member 8 APPROVED protein-coding 26495 08723 610642 VALIDATED 5132012 ERVV-2 endogenous retrovirus group V, member 2 19 19 50595549 50601940 + 53547991 53554380 + 16344560;18826608;21542922 100271846 B6SEH9;M9QSX5 ABBA01068226;AC010328;AMYH01009957;DA863698;EU853143;NM_001191055 ACI62854;B6SEH9;NP_001177984 Hs.420445 ENVV2;HERV-V2 HERV-V_19q13.41 provirus ancestral Env polyprotein 2;endogenous retrovirus HSV2;envelope glycoprotein ENVV2 protein-coding ENSG00000268964 39051 VALIDATED 1319370 ERP44 endoplasmic reticulum protein 44 9 9 q31.1 101781282 101901151 - 102741461 102861330 - 1580863;6480464 19995400;11847130;15308636;18552768;18508857;18178549;17805346;16677073;16303743;15652484;15489334;15164053;14517240;12975309;12477932;11921445;9628581;17353931;19913121;20628086;20562859;19615732;22863883;22451649;16236267;21139048;19322201;22190034 23071 Q9BS26 AB011145;ABBA01042892;ABBA01042893;ABBA01042894;AJ344330;AK075024;AL137072;AL358937;AL360084;AMYH01021568;AMYH01021569;AMYH01021570;AY359048;BC005374;BQ881761;BX648519;CH471105;CQ783816;NM_015051 AAH05374;AAQ89407;BAA25499;BAG52054;CAC87611;CAF86876;EAW58922;EAW58923;NP_055866;Q9BS26 Hs.154023 1767691;1778377;1850011;2180383 A004T01;A007D04;SHGC-57144;STS-R74235 KIAA0573;PDIA10;TXNDC4 ER protein 44;OTTHUMP00000021788;endoplasmic reticulum resident protein 44;endoplasmic reticulum resident protein 44 kDa;protein disulfide isomerase family A, member 10;thioredoxin domain containing 4 (endoplasmic reticulum);thioredoxin domain-containing protein 4 protein-coding ENSG00000023318 18311 10290 609170 VALIDATED 1343709 ERVWE2 endogenous retroviral family W, env(C7), member 2 X q22.1 96988817 96990771 + 139302 AL354685;NG_006128 pseudo 17254 1354332 ESA4 esterase A4 2090 3462 133220 1604617 ERRFI1 ERBB receptor feedback inhibitor 1 ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008] 1 1 p36 7994381 8008943 - 8071779 8086393 - 6480464 10749885;18077449;18046415;17599051;17351343;16819504;16710414;16344560;16007071;15856022;15696545;15556944;15489334;14702039;12833145;12477932;12387890;12384522;12226756;11843178;11003669;7641805;2780291;15778465;21190978;19040996;19439667;19674104;20044804;20351267;20421427;20936779;22505024;21333004;18029348;19531499;22193779;22082529;19322201;19815557;21739478;21706016;21988832;23384834;18271526;22701735 54206 B3KTV8;I6S2Y9;K7EJB4;K7EMD2;K7ENI4;K7ENN7;Q9UJM3 ABBA01035502;AJ276373;AK027830;AK096149;AK315718;AL034417;AL137274;AMYH01000225;BC012839;BC025337;CH471130;DB033666;JQ867454;NM_018948 AAH25337;ABM83063;ABM86257;AFM52327;BAG38076;BAG53220;CAB70672;CAC20426;EAW71592;EAW71593;EAW71594;NP_061821;Q9UJM3 Hs.605445 1684399;1849550;2183501;5092680;5093004 A005P41;G32261;G32464;RH92580;WI-17925 GENE-33;MIG-6;MIG6;RALT ERBB receptor feedback inhibitor 1;OTTHUMP00000001359;mitogen-inducible gene 6 protein;receptor-associated late transducer APPROVED protein-coding ENSG00000116285 18185 09218 608069 VALIDATED 1344495 ESAT esterase activator 4508320 2096 3463 1342621 ESB3 esterase B3 2097 3464 133290 1346740 ERVW-1 endogenous retrovirus group W, member 1 Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 7 7 q21.2 91935631 91938674 - 92097694 92107229 - 6480464 10693809;19327884;18351375;18077339;17762178;17453631;17209768;16871371;16820059;16760410;16176588;16004993;15888734;15827173;15507602;15452578;15269105;15254254;15109395;15033302;14757826;14613893;14557543;14520239;12970426;12853948;12757936;12724415;12664292;12620933;12477932;12397062;12175968;12050356;11990458;11854637;11531410;11375061;11238877;10826480;10737800;10708449;10580403;9882319;9835022;12676986;22573555;22889411;22573740;20546612;19321927;19407656;19561344;19903052;21542922;19692500;20100784;21771862;21493955;22348442;22109522;22971074;23492904;22999499 30816 D0EYG5;Q9UQF0 AACC02000014;AB051004;ABBA01045802;AC007566;AF072503;AF072505;AF072506;AF072507;AF072508;AF156963;AF208161;AF506835;AF513360;AF520478;AF520480;AF520482;AF520484;AF520486;AF520488;AF520490;AF520492;AF520494;AF520496;AF520498;AF520500;AF520502;AF520504;AF520506;AF520508;AF520510;AF520512;AF520514;AF520516;AF520518;AF520520;AF520522;AF520524;AF520526;AF520528;AF520530;AF520532;AF520534;AF520536;AF520538;AF520540;AF520542;AF520544;AF520546;AF520548;AF520550;AF520552;AF520554;AF520556;AF520558;AF520560;AF520562;AF520564;AMYH01017691;AY050299;AY050300;AY050301;AY101582;AY101583;AY101584;AY101585;BC137381;BG012022;BX365066;BX391741;CH236949;GQ919057;NG_004112;NM_001130925;NM_014590 AAD14545;AAD14546;AAD14547;AAD14548;AAF28334;AAF74215;AAI37382;AAL11493;AAL11494;AAL11495;AAM33413;AAM47599;AAM68161;AAM68162;AAM68163;AAM68164;AAQ17561;AAQ17562;AAQ17563;AAQ17564;AAQ17565;AAQ17566;AAQ17567;AAQ17568;AAQ17569;AAQ17570;AAQ17571;AAQ17572;AAQ17573;AAQ17574;AAQ17575;AAQ17576;AAQ17577;AAQ17578;AAQ17579;AAQ17580;AAQ17581;AAQ17582;AAQ17583;AAQ17584;AAQ17585;AAQ17586;AAQ17587;AAQ17588;AAQ17589;AAQ17590;AAQ17591;AAQ17592;AAQ17593;AAQ17594;AAQ17595;AAQ17596;AAQ17597;AAQ17598;AAQ17599;AAQ17600;AAQ17601;AAQ17602;AAQ17603;AAQ17604;ACX53625;BAB47558;NP_001124397;NP_055405;Q9UQF0 1797506;5107869 ERVWE1_2140;STS-T93615 ENVW;ERVWE1;Env-W;HERV-7q;HERV-W;HERV-W-ENV;HERV7Q;HERVW;HERVWENV;syncytin HERV-7q envelope protein;HERV-W Env glycoprotein;HERV-W envelope protein;HERV-W_7q21.2 provirus ancestral Env polyprotein;HERV-W{7q21.1} provirus ancestral Env polyprotein;HERV-tryptophan envelope protein;OTTHUMP00000161914;endogenous retroviral family W, env(C7), member 1;endogenous retrovirus group W member 1;env-W;envelope glycoprotein;envelope polyprotein gPr73;envelope protein;enverin;human endogenous retrovirus W envC7-1 envelope protein;syncytin A;syncytin-1 APPROVED protein-coding ENSG00000242950 13525 05231 604659 REVIEWED 2292055 ERVV-1 endogenous retrovirus group V, member 1 19 19 19 q13.41 50564903 50567392 + 58209396 58211645 + 53517344 53519833 + 18826608;15231748;14702039;12477932;21542922 147664 B6SEH8;M9QQA5;Q96MK7 ABBA01068226;ABBA01068227;AC010328;AK056776;AMYH01009957;BC104018;BC104019;BC104020;BC113852;BC114460;CH471135;EU853142;NM_152473 ACI62853;B6SEH8;BAB71281;EAW72108;NP_689686 Hs.44329 5022322;5037552;5493161 D11S2560;D8S2279;UniSTS:484511 ENVV1;ERVV-2;FLJ32214;HERV-V1;env HERV-V_19q13.41 provirus ancestral Env polyprotein 1;endogenous retrovirus group V, member 2;envelope glycoprotein ENVV1 APPROVED protein-coding 26501 08124 VALIDATED 1606632 ERVFRD-1 endogenous retrovirus group FRD, member 1 Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012] 6 6 p24.1 11210708 11219945 - 11102722 11112071 - 6480464 18650494;18215254;18077339;16714059;16303743;16140326;15489334;14702039;14694139;14574404;14557543;12975309;12970426;12477932;15476554;16344560;19616006;21542922;21832049;21771862;21493955;23177091 405754 P60508;Q8NC12 ABBA01022099;AK075092;AK123938;AL136139;AMYH01016083;AY358244;BC068585;CQ890942;DA863475;NM_207582 AAH68585;AAQ88611;ACT64419;ACT64420;BAC11396;BAC85731;CAH68778;NP_997465;P60508 Hs.631996 1664811;1671716;1769091;1793526;2150117 AL031214;PMC228468P4;RH17888;SHGC-33794;WIAF-1567 ERVFRDE1;FLJ41944;FLJ90611;GLLL6191;HERV-FRD;HERV-W/FRD;MGC87585;UNQ6191;envFRD HERV-FRD provirus ancestral Env polyprotein;HERV-FRD_6p24.1 provirus ancestral Env polyprotein;OTTHUMP00000214319;endogenous retrovirus group FRD member 1;envelope polyprotein;syncytin 2;syncytin-2 APPROVED protein-coding ENSG00000244476 33823 13648 610524 VALIDATED 5509632 ERVK13-1 endogenous retrovirus group K13, member 1 16 p13.3 2708390 2723440 - 12477932;14702039;15489334 100507321 ABBA01008548;AC092117;AC141586;AK000400;AK091794;AK095440;AK097014;AK097909;AK131509;AK292678;AMYH01007077;AMYH01007078;AX747190;BC043252;BX335435;NR_040023 BAA91140;BAD18653;BAF85367;Q9NX77 Hs.406976 1690946;5111997;5113948 G44303;RH69738;RH91370 FLJ16727;FLJ20393;FLJ34475;FLJ38121;FLJ39695;FLJ40590 miscrna 27548 VALIDATED 5490893 ERVMER34-1 endogenous retrovirus group MER34, member 1 4 q12 53609684 53617807 - 6480464 11181995;12477932;14702039;15489334;15498874;16344560;17567985 100288413 Q9H9K5 ABBA01003381;AC104066;AK022746;AMYH01014180;AX879715;AY189288;BC067526;BC067527;BC067528;BC067529;BC069998;BP871936;CH471057;DA633167;NM_001242690;NM_024534 AAH67526;AAH67528;AAH67529;AAH69998;AAO86732;BAB14220;CAE90630;EAX05439;NP_001229619;NP_078810;Q9H9K5 Hs.363087 2173795 D4S3087 FLJ12684;FLJ37999;MGC79429;MGC79431;MGC79432 HERV-MER_4q12 provirus ancestral Env polyprotein;LP9056 protein;endogenous retrovirus group MER34 member 1;hypothetical protein LOC100288413;uncharacterized protein LP9056 protein-coding ENSG00000226887 42970 VALIDATED 1348841 ESAM endothelial cell adhesion molecule 11 11 11 q24.2 121783196 121792400 - 124128229 124137433 - 124623019 124632223 - 1580863;6480464 19240061;16344560;16303743;15489334;15340161;14702039;12975309;12477932;11906820;11847224;11279107;19759376;20153339;21822266 90952 B4DVN8;C9JIE7;F8WDW9;Q96AP7 ABBA01031252;ABBA01031253;ABBA01031254;AF277292;AF361746;AK075396;AK091023;AK092429;AK301160;AK314710;AMYH01004103;AP000866;AY189281;AY358382;BC016868;CH471065;CS051197;DA257581;NM_138961 AAF97236;AAH16868;AAK51065;AAO86725;AAQ88748;ABM82694;ABM85878;BAC11594;BAG62750;CAI72094;EAW67598;NP_620411;Q96AP7 Hs.173840 1685758;1853260 RH94115;STS-R69114 W117m 2310008D05Rik;HUEL (C4orf1)-interacting protein;LP4791 protein;OTTHUMP00000200894;OTTHUMP00000200895;endothelial cell-selective adhesion molecule 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H protein-coding ENSG00000149564 17474 13280 614281 VALIDATED 1353486 ESCO1 establishment of cohesion 1 homolog 1 (S. cerevisiae) ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008] 18 18 18 q11.2 15915246 15986667 - 17363260 17434691 - 19109262 19180693 - 6480464 11572484;19074885;18614053;15958495;15489334;14702039;14576321;12477932;19861517;20331966;11111111;19907496;20360068 114799 Q96PX7 AB067498;ABBA01022684;ABBA01022685;ABBA01022686;AC011774;AK090579;AK096746;AL832041;AL834200;AMYH01008876;BC036943;BC089426;BG492713;BK001617;CH471088;EF444976;NM_052911 AAH36943;AAH89426;ACA05989;BAB67804;BAC03483;CAH10584;CAH10682;DAA02068;EAX01127;EAX01128;EAX01129;NP_443143;Q5FWF5 Hs.464733 1339538;1652207;1697406;1697456;2107029;2180375;5127941 D18S1104;EFO1__6850;RH102203;RH102229;RH17419;SHGC-152381;SHGC-57498 A930014I12Rik;CTF;ECO1;EFO1;ESO1;KIAA1911;MGC105022 CTF7 homolog 1;ECO1 homolog 1;EFO1p;ESO1 homolog 1;N-acetyltransferase ESCO1;establishment factor-like protein 1;hEFO1 APPROVED protein-coding ENSG00000141446 24645 16868 609674 VALIDATED 1350541 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] 8 8 p21.1 27687977 27718344 + 27632058 27662425 + 6480464;7240710 19074885;18501190;18411254;18186147;17081983;16775838;16380922;15958495;15821733;12477932;495649;11111111;19574259;19738907;20116366;20379614;19907496;20331966;21777535;21139048;21906983;21282530;20301332 157570 E5RFE4;E5RFP7;E5RIE3;H0YB88;Q49AP4;Q56NI9 ABBA01005593;AC104997;AF306675;AF306676;AF306677;AF306678;AF306679;AK124215;AL832666;AMYH01018599;AY882862;BC017933;BC034641;BC040615;CH471080;NG_008117;NM_001017420 AAH34641;AAI41419;AAI46563;AAX68677;BAG54021;EAW63538;NP_001017420;Q56NI9 Hs.99480 1683535;1698086;1760351;2176236;5014051;5015607;5015619;5037552 D11S3014;D11S3114;D8S2278;D8S2279;RH102575;RH98495;SHGC-141941;STS-H67282 2410004I17Rik;EFO2;RBS ECO1 homolog 2;N-acetyltransferase ESCO2;OTTHUMP00000225318 APPROVED protein-coding ENSG00000171320 27230 18564 268300;269000;609353 REVIEWED 1606919 ESPNP espin pseudogene 1 1 p36.13 16885780 16924504 - 17017713 17046652 - 6480464 15286153;21906983 284729 ABBA01008118;ABBA01008119;AK294247;AL021920;AL035288;AMYH01000282;NR_026567 BAG57543;CAA22892 Hs.548239 1685990;1724561;1732860;1733164;2136618 D1S1291;D1S1469;D1S2126;RH122540;RH92766 FLJ60011;RP1-163M9.1;dJ1182A14.1 pseudo ENSG00000268869 23285 PROVISIONAL 731924 ESPN espin This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009] 1 1 1 p36.31 5599359 5635452 + 6407435 6443591 + 6484848 6521004 + 734943;6480464;7240710 10975527 19102128;18973245;16710414;16569662;15930085;15498874;15286153;11230166;8889548;8799813;12598619;19773279;9763424;20301607 83715 B1AK53;H0Y7L4;K7EMB7;Q5JYL1 ABBA01035449;ABBA01035450;ABBA01035451;AF134401;AL031848;AL136880;AL158217;AL834172;AMYH01000212;AMYH01000213;AMYH01000214;AMYH01000215;AMYH01000216;AY203958;BM713713;CH471130;NG_015866;NM_031475 AAD24480;AAI56376;AAI72457;AAP34481;B1AK53;CAB66814;CAD38870;CAI22151;CAI22163;EAW71535;EAW71536;EAW71537;EAW71538;NP_113663 Hs.744222 1651750;1685990;1724561;2140561 RH122540;RH92766;SHGC-33105;SHGC-74161 DFNB36;DKFZp434A196;DKFZp434G2126;LP2654 OTTHUMP00000000828;autosomal recessive deafness type 36 protein;ectoplasmic specialization protein;espin APPROVED protein-coding ENSG00000187017 13281 06962 606351;609006 REVIEWED 1314788 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010] 12 12 q 51948350 51973694 + 53662083 53687427 + 1580863;6480464;6907045 12672959;12194817;11875078;11509732;19351757;19345191;19342897;19008095;18728194;18616699;18003702;17974570;17102637;17604273;16258266;16177575;15880121;15342556;15302935;12477932;12297314;11747808;10411507;8724849;15989971;22542101;21272169;19758559;20508983;21041660;21126432;20360068;21987572;21139048;21906983;22814604;19117984;22505724;22626734 9700 H3BM31;H3BRX7;Q14674 ABBA01008321;ABBA01008322;ABBA01008323;ABBA01008324;AC021072;AC073611;AI458447;AK128350;AK299423;AK316135;AMYH01004479;AW009863;AY455930;BC047603;BG328178;BP244662;CH471054;D79987;NM_012291 AAI72238;AAI72570;AAR18247;BAA11482;BAG61403;BAH14506;EAW96681;EAW96682;NP_036423;Q14674 Hs.153479 1747717;1747721;1747725;1751739;2165200;5037744 D1S3694;G64239;G64240;G64244;RH45441;SHGC-105759 ESP1;FLJ46492;KIAA0165;SEPA OTTHUMP00000241835;OTTHUMP00000242633;caspase-like protein ESPL1;extra spindle poles like 1;extra spindle poles like 1 (s. cerevisiae);extra spindle poles-like 1 protein;separin APPROVED protein-coding ENSG00000135476 16856 06825 604143 VALIDATED 1602816 ESPNL espin-like 2 2 2 q37.3 232721894 232754471 + 238673690 238706667 + 239008951 239041928 + 6480464 12975309;12477932 339768 C9J6L8;Q6ZVH7 ABBA01042601;AC016757;AK124559;AK124612;AK128187;AMYH01011602;AY358157;BC042051;BC080639;CH471063;NM_194312 AAH42051;AAH80639;AAQ88524;BAC85884;BAC85900;BAG54646;EAW71140;NP_919288;Q6ZVH7 Hs.127724 1855511;2109809 SCLY_9735;WI-13471 FLJ42568;MGC99829 OTTHUMP00000164473;OTTHUMP00000202681;espin-like protein protein-coding ENSG00000144488 27937 14170 VALIDATED 5508482 ESRG embryonic stem cell related (non-protein coding) 3 p14.3 54666151 54673884 - 6480464 17803967;21861197 790952 Q1W209 ABBA01024462;AC092057;AMYH01013198;BE672034;DQ445779;NR_027122 ABD92927;Q1W209 Hs.720658 2143540;5124088 RH65395;RH65515 HESRG miscrna ENSG00000265992 39079 611473 VALIDATED 737594 ESM1 endothelial cell-specific molecule 1 This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 5 5 q11.2 54309900 54317167 - 54273695 54281414 - 1580863;6480464 8702785;19458546;18680240;18614759;18592377;17362927;16899604;16764824;15489334;12778364;12477932;12011586;21526908;11866539;11544294;11025405;19785952;20821239;17207965;20102396;20515564;20237496;20379614;20383661;21905955;22183069;23243026;22353248;22948784;22735811 11082 M0R154;Q9NQ30 ABBA01015734;AC010436;AC034238;AJ401091;AJ401092;AJ973643;AK300634;AK311817;AMYH01015088;BC011989;BM423977;CH471123;NM_001135604;NM_007036;X89426 AAH11989;ADQ32828;BAG34760;BAG62324;CAA61597;CAB94771;CAJ13737;EAW54896;EAW54897;NP_001129076;NP_008967;Q9NQ30 Hs.129944 1715941;1755395;1778101;5016292;7186886 RH122706;SHGC-142274;SHGC-57281;STS-X89426 endocan ESM-1;OTTHUMP00000122501;OTTHUMP00000221554;endothelial cell-specific molecule 1 APPROVED protein-coding ENSG00000164283 3466 03310 601521 REVIEWED 1314468 ESF1 ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 20 20 20 p12.1 13765027 13835578 - 13642969 13713532 - 13694969 13765532 - 6480464 17081983;16565220;15660422;15635413;15489334;15302935;14702039;12477932;11780052;12463424;16344560;19471022;21693764;21906983;22586326;21963094;23358156;22505724 51575 Q6P6H6;Q9H501 ABBA01053973;ABBA01053974;AF068285;AK000375;AK022369;AK022670;AK074299;AL161659;AMYH01011724;AMYH01011725;BC020952;BC030513;BC039706;BC046107;BC062214;BC104663;CH471133;DA472223;NM_001276380;NM_016649 AAF65504;AAH20952;AAH30513;AAH39706;AAH46107;AAH62214;AAI04664;AAI40352;AAI46543;BAA91123;BAB14023;BAB14167;EAX10313;NP_001263309;NP_057733;Q9H501 Hs.369284 1682862;5020948;5022651;5109281 D11S2921;D1S1425;G35510;RH98877 ABTAP;C20orf6;FLJ20368;HDCMC28P;bA526K24.1 ABT1-associated protein;ESF1 homolog;OTTHUMP00000030301;chromosome 20 open reading frame 6 protein-coding ENSG00000089048 15898 10732 VALIDATED 1354034 ESD esterase D This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009] 13 13 q14.1-q14.2 46243392 46269368 - 47345391 47371367 - 1580863;6480464 7907313;7821789;7375916;6823558;3770744;3591015;3462728;3462714;3462698;3459695;3456572;1886375;1137344;3164702;19343046;19126594;18552983;15489334;15057823;14702039;12942785;12721789;12477932;11963573;11785295;11436564;10931946;21596165;20562859;22939629;18029348;18624398;21139048;21890473;21906983;22118674;22505724;22944692 2098 H7BZT7;P10768 ABBA01050995;AF052509;AF085881;AF112219;AK093643;AK098540;AL136958;AMYH01005097;BC001169;BT007059;CH471075;D28416;M13450;NM_001984 AAA52408;AAC06298;AAC99788;AAH01169;AAP35708;BAA05782;EAX08767;EAX08768;EAX08769;NP_001975;P10768 Hs.432491 1651159;2119128;2130468;2180371;2185694 D13S1674;RH47230;SHGC-30741;STS-M13450;STS-T64482 FGH;FLJ11763 OTTHUMP00000018374;OTTHUMP00000018375;OTTHUMP00000018376;S-formylglutathione hydrolase;esterase 10;esterase D/formylglutathione hydrolase;methylumbelliferyl-acetate deacetylase 1643520 BW259_H APPROVED protein-coding ENSG00000139684 3465 00588 133280 REVIEWED 1626576 ESRRAP2 estrogen-related receptor alpha pseudogene 2 13 13 13 q12.11 2895996 2898184 + 20731913 20734788 + 21834308 21836496 + 18065488;9344655;3267207;23251661 144832 ABBA01068603;AL158032;AMYH01004957;NG_007350;U85258 1797062 BARC0081 ESTRRA pseudo 24647 INFERRED 1345028 ESRRAP1 estrogen-related receptor alpha pseudogene 1 13 q12.1 20133953 20135412 - 18065488;9344655;3267207 144847 ABBA01068556;AL359457;AMYH01004939;NG_001009 ESRRAP;bA76K19.2 pseudo 3472 INFERRED 730826 ESRRA estrogen-related receptor alpha The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jul 2008] 11 11 q13 63829620 63840786 + 64073044 64084210 + 1625636;1625637;1580863;6480464 16286534;16755280 22333182;11984006;9286700;19491275;19453261;19429439;19276159;19171140;19138740;19064572;19061896;18974123;18778951;18697814;18673300;18660489;18509053;18331830;18328649;18174157;17631492;17556356;17509876;17418099;17418098;17294452;17053040;16681769;16260778;16150865;15883633;15821111;15598686;15337744;15318176;15302935;15231747;15231680;14978033;14610283;12579315;12560563;12522104;12477932;12397057;11986328;11574675;11437591;11165056;9824153;9344655;9271417;9058380;8621448;8224847;3267207;10598588;21513704;19505873;14701856;21949640;9395481;19913121;20628086;19822186;20400511;20561910;20668045;12181319;15604093;16024613;18418639;19264843;19389810;19546226;19608650;19622763;20067526;20497091;20961995;20351196;16439465;21102463;20211987;17157980;20870744;20838448;21486805;20851810;17488637;21190936;20484414;21177257;22939629;21506092;21734015;21447778;21546870;21596133;22014575;19471022;22096509;22266318;21449913;21732060;22242598;21988832;23123734;23275563 2101 F5GWT5;F5H0E9;H0YGT3;P11474;Q569H8 AB362579;ABBA01003296;AMYH01003705;AP001453;BC007915;BC011528;BC033701;BC063795;BC073956;BC092470;BC093720;BC093722;CH471076;DQ514553;HQ692867;L38487;NM_004451;X51416 AAB17015;AAH07915;AAH11528;AAH33701;AAH63795;AAH73956;AAH92470;AAH93720;AAH93722;ABF47104;ABZ92000;ADZ17378;BAF81543;CAA35778;EAW74246;EAW74250;NP_004442;P11474 Hs.110849 1660884;1685067;1792116;1792118;1797062;2154736;2167495;5126396;5492324 BARC0081;Esrra;G33076;PMC137182P2;PMC137182P3;RH92300;SGC30525;SHGC-11941;WI-8671 ERR1;ERRa;ERRalpha;ESRL1;NR3B1 ERR-alpha;OTTHUMP00000198089;OTTHUMP00000198090;OTTHUMP00000198091;OTTHUMP00000237048;estrogen receptor-like 1;estrogen related receptor, alpha;estrogen-related nuclear receptor alpha;nuclear receptor subfamily 3 group B member 1;steroid hormone receptor ERR1 APPROVED protein-coding ENSG00000173153 3471 07210 601998 REVIEWED 69213 ESR2 estrogen receptor 2 (ER beta) This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008] 14 14 q23.2 63763504 63875021 - 64693751 64805268 - 1581011;1581012;1581013;1581014;1581015;1581016;1581017;1580704;734949;734951;734950;1582269;1580863;735008;1626507;735007;1626508;1626506;2290017;2290023;2290024;4892064;5128669;5130191;5508791;5508813;5508776;5508784;5508817;5509039;5508810;5508792;5508794;4892252;5508844;5508847;5508846;5508850;5509042;5508738;5508768;5508820;5508854;5508732;5508735;5508772;5508843;5509040;6480464 16608893;16859590;16280269;16099331;11185739;15894829;15167447;15533858;11799247;12740446;11891272;15564578;12515851;16777502;9861029;16153823;17579196;18234277;17908481;17924141;19274700;17928626;19629072;21700911;20627037;15219649;15082146;20305046;15661863;21697723;21523342;20195535;17336162;16894621;17056036;16755255;14500559;20961965;17132983;18656630;16269464;21565615;21182085;15916731;17874259;15618247 21196169;21220187;21269613;21443125;15024130;18195227;17241382;21435239;21492444;22156442;21767241;21823190;22295107;22313325;22374427;11181953;12039952;14764652;9671811;8769313;10749889;19111408;19106194;19093296;19082882;19064572;19060449;19034156;19032828;19032364;19032032;19018086;19012097;19001520;18992263;18981223;18980759;18962445;18955141;18952763;18939943;18937077;18931615;18925325;18846948;18844113;18825402;18825311;18794456;18771580;18767927;18765668;18753331;18752050;18727987;18704709;18698041;18678289;18676680;18669459;18644836;18636124;18627768;18620727;18617186;18607069;18599548;18597742;18579858;18577698;18569528;18560445;18544915;18510611;18508999;18487282;18483761;18483178;18459544;18451176;18445666;18421469;18421025;18375409;18317771;18305346;18304720;18297304;18288931;18268123;18216219;19639498;19630952;19604497;19598235;19574343;19555469;19524139;19493328;19491296;19487281;19480740;19478391;19473078;19453261;19438492;19429457;19429453;19429434;19386104;19382890;19337134;19331143;19321582;19309393;19303878;19298602;19277704;19254455;19217708;19198856;19194457;19189968;19185861;19148895;19141699;19132986;19127255;19124506;19117011;18166184;18165403;18164902;18157729;18093886;18070128;18053221;18048499;18039858;18026833;18007998;18006911;17964137;17951536;17945165;17941906;17935138;17932344;17916182;17904846;17895504;17889406;17884941;17713466;17706202;17704057;17702854;17680534;17646097;17640362;17638897;17634528;17625110;17617929;17609204;17604135;17599809;17597290;17585029;17556531;17548071;17540666;17537412;17520659;17512111;17507630;17507624;17503469;17478088;17474167;17456575;17443129;17428314;17415682;17405842;17368651;17365134;17350752;17336962;17333268;17332369;17287066;15489334;15389627;15383631;15381922;15374639;15368362;15355905;15354857;15345745;15330195;15314175;15291741;15280642;15272917;15258723;15254780;15231873;15217907;15208676;15208259;15198955;15193490;15181079;15171727;15171712;15170658;15167446;15161636;15155785;15147889;15146197;15108352;15073120;15070964;15070949;15068501;15060164;15047147;15033914;15026080;15001646;14973391;14761887;14759258;14745018;14742696;14739282;14736707;14729654;14716825;15492781;14715875;14710360;14699439;14691461;14676828;14674142;14634838;14633679;14576822;14555521;14528452;14519529;14500565;12969589;12947046;12904255;12899921;12895004;12894229;12873984;12865336;12861133;12846425;12839940;12815477;12774124;12740031;12727987;12710997;12710996;12702147;12691862;12682916;12650698;12597128;12566449;12554752;12554660;12552233;12547836;12547192;12519886;12497580;12477932;12477486;12477483;12475719;12466272;12456792;12414901;12242035;12207170;12200415;12168823;12151079;12145209;12137804;12119550;12112024;12111450;12095943;12073050;12021200;12021179;11992621;11986316;11981030;11971969;11959119;11953755;11923465;11918216;11887032;11875103;11867769;11826769;11803451;11781694;11775002;11773444;11773069;11739747;11720251;11704680;11682624;11596023;11579095;11555647;11530282;11397855;11389589;11344243;11279242;11266503;11231990;11180758;11117529;11113208;11053406;11013076;10964723;10908561;10809226;10770204;10720062;10706629;10681591;10681512;10681503;10667568;10648597;10601611;10598587;10579320;10554010;10352100;9892018;9773978;9685228;9636657;9506768;9501254;9473491;9443393;9398750;9329394;9325313;9267036;8221895;8197458;15899520;17962381;11032808;11250900;11158331;10903152;12738788;17203178;17184825;17160687;17135255;17132221;17110088;17083364;17065579;17062671;17046193;17011556;16951146;16949392;16949390;16949384;16939403;16938840;16921512;16883534;16880783;16873370;16855153;16846491;16809442;16808847;16793950;16791593;16766435;16760287;16735942;16723304;16720731;16700038;16691199;16648749;16648639;16645038;16633737;16622736;16604479;16554735;16553027;16551880;16549430;16522905;16500359;16365013;16332659;16317584;16293641;16292491;16269961;16261413;16230778;16226111;16216906;16213843;16210384;16210018;16125346;16123086;16118406;16118344;16115604;16098017;16083630;16061639;16046054;15998774;15976006;15947116;15944651;15941852;15862952;15862951;15862947;15862945;15821116;15802376;15784714;15784253;15781005;15780944;15723135;15698546;15694360;15692074;15662019;15656884;15635591;15615701;15613410;15609040;15607534;15604249;15592589;15569979;15545229;15544935;15541640;15536519;15536156;15525597;15525276;15517897;15496419;22296324;22451324;20446826;18070427;20404318;21117950;19913121;20306477;20519370;20538124;20586553;20599614;20615892;20628086;20634197;20634891;20655613;20673868;22465878;9121466;9765300;21597315;21979797;22347418;22347437;22378275;20097268;20542061;20596625;20827267;20421786;20581768;20372779;20664970;15602573;15604093;17633471;18394649;18990386;19170196;19200973;19217090;19423554;19434490;19509112;19556604;19574173;19593135;19625176;19639330;19654868;19669093;19676041;19680825;19692168;19700868;19706809;19715484;19720911;19728929;19738412;19739075;19739677;19754929;19758455;19776291;19780039;19787222;19800101;19837602;19878085;19884274;19897598;19898422;19927160;19933466;19938352;19938958;19940362;19944560;19948975;19950602;19952760;19953095;19959825;20059631;20074560;20079471;20080630;20080857;20148360;20172949;20173016;20200813;20215396;20237496;20304699;20305341;20346360;20349239;20351714;20353944;20375995;20378615;20379614;20390341;20399928;20452482;20468064;20480654;20508921;20548329;21106950;19657752;20339947;20363876;20660297;20696772;20680712;20716560;20734064;20850223;20857063;20927313;21444077;21080949;19882362;20604969;19744542;20173645;20956532;20462399;20337826;20859991;22228197;22305517;22463697;22759347;20524935;20962507;20945400;21199728;21124760;21152100;11358671;11500849;15886699;20920096;10770935;20369480;21262360;21323952;20599828;20960162;21498706;20398657;22921477;23024189;22324545;22669742;22982181;21203528;21520258;20195802;21173974;21397694;21476192;21487105;21132001;20623183;21972702;21266854;21062926;21271213;22238119;22948905;20490651;23265127;21493669;21629692;19746436;20615575;21623207;21546410;21632819;22810004;22836803;23055188;21410323;21665249;21673961;21734414;21525722;21884200;21200092;21344398;21832119;21699784;21673408;21689747;21924251;21951066;21269226;21733187;21732360;22155094;22271289;22271290;21866462;21874257;22260414;21182203;23056216;23056236;10731636;22486657;23030067;23143558;23199240;23487784;21511357;21749714;21762477;22114194;22370157;22586270;22590818;22593181;22884659;21317201;22092402;21764500;21901395;22038234;22052998;22052999;22271291;22271292;22271293;22271294;22271295;22331461;21640622;11014206;11376110;11591700;12554772;12630920;17158759;22014031;22086303;22248281;22266976;22311091;22336175;22383464;21120602;21658000;22001950;22302352;22349818;22407332;22509838;22583357;22678799;22744458;22183267;21145461;22245602;22270483;22615145;22792352;22808245;22820289;23149914;22463081;23463097;23060014;23190557;23305873;23362266;22105146;23274843;23350368;22622808;23584859;20340172;21207861;22231442;22577883;22580535;22622360;23028063;22328322;22392906;22531679;22556124;22710948;22906475;21695893;22729816;23018357;22451234;22800601;22808109;23000159 2100 F1D8N3;F5GWJ8;G3V5M5;G3V5S2;Q0MWT5;Q0PTK2;Q7LCB3 AB006589;AB006590;AB209620;ABBA01018351;ABBA01018352;ABBA01018353;ABBA01018354;ABBA01018355;ABBA01018356;AF014796;AF047463;AF051427;AF051428;AF060555;AF061054;AF061055;AF074598;AF074599;AF124790;AF191544;AF215937;AK292370;AL161756;AL355094;AMYH01005798;AY438022;AY640407;AY785359;BC024181;BX247957;CH471061;CN366005;DQ777076;DQ777077;DQ838582;DQ838583;HQ692820;HQ692821;NG_011535;NM_001040275;NM_001040276;NM_001214902;NM_001214903;NM_001271876;NM_001271877;NM_001437;NR_073496;NR_073497;NR_073505;X99101 AAC05751;AAC05985;AAC15234;AAC25602;AAC25603;AAC39784;AAC39785;AAD32580;AAG29940;AAH24181;AAV31779;ABG88022;ABH09189;ABH09190;ADZ17331;ADZ17332;BAA24953;BAA31966;BAD92857;BAF85059;CAA67555;CAD62297;EAW80845;EAW80846;EAW80847;EAW80848;EAW80849;EAW80850;EAW80851;EAW80852;EAW80853;EAW80854;NP_001035365;NP_001035366;NP_001201831;NP_001201832;NP_001258805;NP_001258806;NP_001428;Q92731 Hs.660607;Hs.734038;Hs.734416 1339059;1661422;1773917;1793804;1847707;2132666;2136389;2140643;2181811 D14S1026;G35720;G35928;G35938;G36170;G36177;G36178;PMC29094P1;RH71305 ER-BETA;ESR-BETA;ESRB;ESTRB;Erb;NR3A2 OTTHUMP00000180647;OTTHUMP00000245359;OTTHUMP00000245360;OTTHUMP00000245361;OTTHUMP00000245362;OTTHUMP00000245363;OTTHUMP00000245364;OTTHUMP00000245365;estrogen nuclear receptor beta variant a;estrogen nuclear receptor beta variant b;estrogen receptor beta;estrogen receptor beta 4;nuclear receptor subfamily 3 group A member 2 APPROVED protein-coding ENSG00000140009 3468 03390 601663 REVIEWED 736559 ESR1 estrogen receptor 1 This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters. [provided by RefSeq, Jul 2008] 6 6 q25.1 152170379 152466099 + 152011631 152424409 + 1580335;1580337;1580338;1331525;1358612;1601096;1580863;1626508;2314003;2314005;2314012;2306775;2290017;2290041;2290020;2290022;2290023;2290024;2290043;2290042;2290019;2314014;2314020;4892064;4892303;4892299;4892255;4892301;4892302;4892312;4892253;4892300;5128669;5130191;6480464;6484113;7240710 16159931;16500359;16651458;15118671;10558867;8090165;16153823;18854778;18305958;17097034;15596216;18234277;17656605;18006911;17922863;17908481;17924141;17932744;16891317;18055862;16734901;16464734;19274700;17035596;18314151;19506903;17903303;17659810;16522460;20081107;18285421;17928626;19629072 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2099 B0QYW7;F6SD09;G4XH65;H0Y4W6;P03372;Q5T5H8;Q9H2M1;Q9UBT1;Q9UE35 AB307713;AB588629;AB588630;AB685815;AB685817;ABBA01025629;ABBA01025630;AF120105;AF258449;AF258450;AF258451;AF326912;AK293019;AK304600;AK304833;AK309580;AK311064;AK313644;AL035695;AL049821;AL078582;AL356311;AL590993;AMYH01016746;AY425004;AY750962;BC128573;BC128574;BE084831;BX640939;CH471051;CS405710;DA329077;DB285906;EU921455;EU982838;EU982839;EU982840;FJ011556;FJ011557;FJ011558;FJ011559;FJ011560;FJ147552;FJ147553;FJ147554;FJ147555;FJ147556;FJ147557;FJ147558;FJ169500;FJ169501;FJ169502;FJ169503;FJ169504;FJ668387;FJ712305;FJ712306;FJ712307;FJ716811;FJ716812;FJ716813;FJ716814;FJ716815;GQ366704;GQ411250;GQ411251;GQ411253;GQ411258;GQ438790;GQ438791;JF810888;M12674;M69297;NG_008493;NM_000125;NM_001122740;NM_001122741;NM_001122742;U47678;U68067;U68068;X03635;X62462;X73067;X74439;Z75126 AAA52399;AAA58462;AAB00115;AAC51874;AAC51875;AAD23565;AAG41358;AAG41359;AAG41360;AAG42501;AAI28574;AAI28575;AAQ91815;AAW69860;ACH41916;ACH73261;ACH73262;ACH73263;ACI01724;ACI01725;ACI01726;ACI01727;ACI01728;ACI01729;ACI01730;ACI04255;ACI04256;ACI04257;ACI04258;ACI04259;ACI06210;ACI06211;ACI06212;ACI06213;ACI06214;ACN41854;ACN66633;ACN66634;ACN66635;ACN89822;ACN89823;ACN89824;ACN89825;ACN89826;ACU29456;ACV41785;ACV41786;ACV41788;ACV41793;ACV88148;ACV88149;AEP43755;BAF85708;BAG65386;BAG65577;BAH02304;BAJ41265;BAJ41266;BAM62931;BAM62933;CAA27284;CAA44322;CAA51528;CAA99436;CAD97416;CAE45969;CAL40514;EAW47740;EAW47741;NP_000116;NP_001116212;NP_001116213;NP_001116214;P03372 Hs.208124 1335920;1651046;1668252;1669579;1671617;1693324;1699998;1710038;1740287;1741621;1741813;1742343;1751509;1791388;1792178;1794856;1794858;1795252;2113818;2167510;2167594;5015607;5015609;5022637;5118412 AL034435;D11S2766;D11S3014;D11S3026;D11S3270;D6S1313;D6S1315;D6S1846;D6S440;DXS257;ESR1;ESR1_43;GDB:181591;GDB:185229;GDB:196364;PMC108984P2;PMC13912P1;PMC60225P1;PMC60225P2;RH103609;RH46867;SHGC-105338;SHGC-1854;SHGC-82295;STS-N31971 DKFZp686N23123;ER;ESR;ESRA;Era;NR3A1 ER-alpha;OTTHUMP00000017718;OTTHUMP00000017719;estradiol receptor;estrogen nuclear receptor alpha;estrogen receptor;estrogen receptor alpha 3*,4,5,6,7*/822 isoform;estrogen receptor alpha E1-E2-1-2;estrogen receptor alpha E1-N2-E2-1-2;estrogen receptor alpha delta 3*,4,5,6,7*,8*/941 isoform;estrogen receptor alpha delta 3*,4,5,6,7*/819-2 isoform;estrogen receptor alpha delta 4 +49 isoform;estrogen receptor alpha delta 4*,5,6,7*/654 isoform;estrogen receptor alpha delta 4*,5,6,7,8*/901 isoform;nuclear receptor subfamily 3 group A member 1 1643367;1643404;1643502;2289445 BMD3_H;BW265_H;BW323_H;BW415_H APPROVED protein-coding ENSG00000091831 3467 00589 133430;157300;608446 REVIEWED 1606552 ESRP1 epithelial splicing regulatory protein 1 ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] 8 8 8 q22.1 91839462 91906238 + 95722576 95788870 + 95653364 95719694 + 6480464 19285943;19177006;17145811;15489334;14702039;12477932;11329013;20711167;18029348;19829082;22961986;21876675;21906983;22037216;22354987;22585092;23299472 54845 E5RGE9;E5RI26;H0YBB3;H0YBR2;Q6NXG1 ABBA01037458;ABBA01037459;AC108860;AI990751;AK000178;AK001805;AMYH01018890;AMYH01018891;AMYH01018892;AP005660;BC019932;BC035406;BC052574;BC067098;BC099916;BC101621;BC112043;BG182742;BG212336;BX641160;BX647570;CH471060;NM_001034915;NM_001122825;NM_001122826;NM_001122827;NM_017697 AAH19932;AAH67098;AAH99916;AAI12044;BAA90992;EAW91720;EAW91721;NP_001030087;NP_001116297;NP_001116298;NP_001116299;NP_060167;Q6NXG1 Hs.487471 1657726;1680912;1696012;1699866;1715735;2150092 G17260;RH103541;RH11853;RH119314;RH99323;SHGC-82785 FLJ20171;RBM35A;RMB35A OTTHUMP00000227006;OTTHUMP00000227007;OTTHUMP00000227008;OTTHUMP00000227009;OTTHUMP00000227012;OTTHUMP00000227013;RNA binding motif protein 35A;RNA-binding motif protein 35A;RNA-binding protein 35A;epithelial splicing regulatory protein 1 APPROVED protein-coding ENSG00000104413 25966 07881 612959 VALIDATED 1342767 ESRRB estrogen-related receptor beta This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008] 14 14 q24.3 75907479 76036961 + 76837690 76968180 + 1580863;6480464;7240710 18957414;18775884;18509053;18179891;18071305;17920186;16332939;15598686;12654265;12529709;12508121;12477932;10598588;10072763;9398750;9344655;8889548;3267207;20634891;19755138;20080650;20379614;16439465;19196830;20400511;21177257;21561608;21802533;22951369;20301607 2103 E7EWD9;O95718 AB307714;ABBA01030678;ABBA01030679;ABBA01030680;ABBA01030681;ABBA01030682;AC008050;AC016543;AMYH01005865;AMYH01005866;AY451389;AY451390;BC131517;BM662795;CH471061;DR007211;HQ692852;NG_012278;NM_004452;X51417 AAG17472;AAG29619;AAI31518;AAI48478;AAS15571;AAS15572;ADZ17363;BAH02305;CAA35779;EAW81258;NP_004443;O95718 Hs.435845 1337546;1717181;1761131;2129388;2129579;2146617;2147835;2168182;2172628;2176673;2179705 D14S53;G17789;G35549;G35572;G35837;G35885;G36305;RH121513;RH78883;SHGC-145134;STS-AA016239 DFNB35;ERR2;ERRb;ESRL2;NR3B2 ERR beta-2;ERR-beta;ERRbeta-2;OTTHUMP00000218238;OTTHUMP00000218239;OTTHUMP00000218240;OTTHUMP00000246609;estrogen receptor-like 2;estrogen-related nuclear receptor beta;nuclear receptor ERRB2;nuclear receptor subfamily 3 group B member 2;orphan nuclear receptor;steroid hormone receptor ERR2 APPROVED protein-coding ENSG00000119715 3473 03700 602167;608565 REVIEWED 1605047 ESRP2 epithelial splicing regulatory protein 2 ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] 16 16 16 q22.1 52770943 52778629 - 66819951 66827637 - 68262450 68270136 - 6480464 15498874;15489334;14702039;12477932;7566098;19285943;19829082;20711167;22354987;18029348 80004 J3KRF2;J3QKU3;J3QQJ9;Q9H6T0 ABBA01025481;AC020978;AF289577;AK025571;AK025901;AMYH01007756;BC030146;BC052309;BC069241;BG721782;BU934976;BU943912;CH471092;NM_024939;T36047 AAH30146;AAL55761;BAB15173;BAB15275;EAW83214;EAW83215;EAW83216;NP_079215;Q9H6T0 Hs.436585;Hs.592053 1696932;1769692;1771207;2171941;2171943;2178187 A002B46;D16S3349;G19908;RH101936;RH16192;SGC32906 FLJ21918;FLJ22248;RBM35B OTTHUMP00000174864;RNA binding motif protein 35A;RNA binding motif protein 35B;RNA-binding motif protein 35B;RNA-binding protein 35B;epithelial splicing regulatory protein 2 APPROVED protein-coding ENSG00000103067 26152 07971 612960 VALIDATED 1605327 ESYT3 extended synaptotagmin-like protein 3 3 3 3 q22.3 136578324 136622170 + 139636109 139678399 + 138153415 138197256 + 6480464 17672888;16344560;15238157;12477932;11543631;10737800;21733517;17360437 83850 A0FGR9;H7BXJ6 ABBA01059093;AC022497;AJ303366;AJ697972;AK125080;AK289530;AMYH01013531;AW513592;AW792835;BC037292;BQ435892;DA726011;DQ993202;NM_031913 A0FGR9;AAH37292;ABJ97707;BAF82219;CAC33888;NP_114119 Hs.477711 2150719 RH48298 CHR3SYT;E-Syt3;FAM62C OTTHUMP00000190864;OTTHUMP00000216900;chr3 synaptotagmin;extended synaptotagmin-3;family with sequence similarity 62 (C2 domain containing), member C protein-coding ENSG00000158220 24295 13054 VALIDATED 1349366 ESRRG estrogen-related receptor gamma This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011] 1 1 q41 214743211 215329599 - 216676588 217311097 - 6480464 16344560;15342556;10428842;19415745;19171140;18582436;18510611;18509053;18328649;18005256;17846126;17761695;17706602;16990259;16710414;16681769;15821111;15598686;15489334;14702039;14651967;12715898;12477932;12470660;12180985;12107410;11864604;10707956;10072763;10048485;9676434;8889549;8889548;19019082;22049338;21546767;20395239;12181319;14963109;15604093;19304792;19690166;19821770;20379614;17157980;20400511;21459093;19822186;16439465;20883782;20838448;20889127;21177257;21348951;17488637;21832049;22763271;20398657;20516075;21757507;21911493;22549789;21153485;18673300;23051957;23050013;23377640 2104 B7Z5E9;C0SQ93;C9J0E3;C9J5W9;C9JNX5;C9JU32;F1D8R5;F1D8R6;K7EM35;Q68DA0 AA167816;AB020639;AB307715;AB362218;ABBA01048116;ABBA01048117;ABBA01048118;ABBA01048119;ABBA01048120;ABBA01048121;ABBA01048122;AC096634;AC096635;AF058291;AF094518;AF117255;AK001811;AK131193;AK290945;AK291028;AK291647;AK298851;AL391216;AL445650;AL512626;AL512650;AL513312;AL603752;AMYH01001730;AMYH01001731;AY388456;AY388457;AY388458;AY388459;AY388460;AY388461;AY528719;BC008218;BC064700;BM723962;BP349857;BU752915;BX486063;BX647076;BX649009;CA397450;CF594270;CH471100;CR749497;DA720944;DA722064;DB220304;HQ692853;HQ692854;NG_029784;NM_001134285;NM_001243505;NM_001243506;NM_001243507;NM_001243509;NM_001243510;NM_001243511;NM_001243512;NM_001243513;NM_001243514;NM_001243515;NM_001243518;NM_001243519;NM_001438;NM_206594;NM_206595 AAC39899;AAC99410;AAD48370;AAH08218;AAH64700;AAQ93376;AAQ93377;AAQ93378;AAQ93379;AAQ93380;AAQ93381;AAS00098;ABZ92001;ACE86957;ACE87648;ADZ17364;ADZ17365;BAA74855;BAF83634;BAF83717;BAF84336;BAG54746;BAH02306;BAH12885;BAH36764;CAH18320;EAW93335;NP_001127757;NP_001230434;NP_001230435;NP_001230436;NP_001230438;NP_001230439;NP_001230440;NP_001230441;NP_001230442;NP_001230443;NP_001230444;NP_001230447;NP_001230448;NP_001429;NP_996317;NP_996318;P62508 Hs.444225;Hs.738938 1338031;1340851;1341225;1646391;1682776;1691826;1692202;1692488;1692794;1710460;1711238;1712857;1719211;1753035;1764011;1776297;1777622;1792112;1792114;1797510;1848159;1850537;2121810;2133615;2133772;2139304;2152119;2156545;5017871;5022450;5022588;7184998;7186275 144XF2;242XF6;AL010110;AL033738;AL033895;AL033966;AL034041;D10S275;D1S1838E;D1S227;D1S229;D1S2422;D1S2424;D1S3320;D1S490;D5S1597E;ESRRG;ESRRG_2260;G18039;G20464;PMC137182P10;PMC137182P11;RH120145;RH123324;RH16932;SHGC-147669;SHGC-56916;SHGC-79099;SHGC-84976;SHGC-86241;WI-12511 DKFZp781L1617;ERR3;ERRgamma;FLJ16023;KIAA0832;NR3B3 ERR gamma-2;OTTHUMP00000035075;OTTHUMP00000035076;OTTHUMP00000035092;OTTHUMP00000035095;OTTHUMP00000035115;OTTHUMP00000035116;OTTHUMP00000035126;OTTHUMP00000216805;OTTHUMP00000216806;OTTHUMP00000216807;OTTHUMP00000216808;OTTHUMP00000216812;estrogen receptor-related protein 3;estrogen-related nuclear receptor gamma variant 1;estrogen-related nuclear receptor gamma variant 2;estrogen-related receptor gamma;nuclear receptor subfamily 3 group B member 3 APPROVED protein-coding ENSG00000196482 3474 04274 602969 REVIEWED 1604009 ETAA1 Ewing tumor-associated antigen 1 2 2 2 p14 67473171 67486260 + 67477946 67491037 + 67624442 67637533 + 6480464 16003559;12477932;18029348 54465 Q9NY74 ABBA01075469;ABBA01075470;AC023668;AJ242682;AK025155;AK026300;AMYH01010410;AW978869;BC033075;BC040001;CH471053;NM_019002 AAH33075;AAH40001;AAX93100;CAB76378;EAW99888;NP_061875;Q9NY74 Hs.353022 1721955;2125048 G59863;RH46083 ETAA16;FLJ22647 ETAA16;OTTHUMP00000159942;ewing's tumor-associated antigen 1;ewing's tumor-associated antigen 16 protein-coding ENSG00000143971 24648 13282 613196 VALIDATED 1351224 ETF1P1 eukaryotic translation termination factor 1 pseudogene 1 6 6 6 p21.3 31597615 31599979 + 30107369 30109733 + 29999490 30001654 + 10727083;10413110;1546371 6824 ABBA01038041;AF055066;AL669914;AL671859;AL845439;AMYH01016204;BX088647;BX927229;CR388205;CR759763;CR759960;NG_001028 1678429;1685449 RH41003;RH79934 HCGVII;SUP45L2 pseudo 3478 INFERRED 1345726 ETF1P2 eukaryotic translation termination factor 1 pseudogene 2 7 7 7 q36.1 145756393 145758873 + 150829702 150832435 + 151198918 151201398 + 10413110;1546371 6825 AACC02000108;ABBA01035154;AC005996;AF112357;AMYH01018145;NG_001198 SUP45L3 pseudo 3479 INFERRED 1343202 ETF1P3 eukaryotic translation termination factor 1 pseudogene 3 X X X q12 65361325 65365009 + 64924303 64932403 + 65014187 65017871 + 10413110;1546371 100132121 ABBA01067048;ABBA01067049;AF110131;AL450487;AMYH01022504;NG_009869 SUP45L4 pseudo 3480 INFERRED 1350335 ESX1 ESX homeobox 1 This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010] X X q22.1 103381375 103386244 - 103494719 103499599 - 1580863;6480464 17242862;16613891;15601583;15489334;15235584;14702039;12477932;11374906;20356899;15897875;17588961 80712 Q8N693 ABBA01019058;ABBA01019059;AK097704;AL049631;AMYH01022808;AY114148;BC042633;BC053599;CH471120;NG_016393;NM_153448 AAH42633;AAH53599;AAM62141;EAX02755;NP_703149;Q8N693 Hs.223782 1702158 DXS1460 ESX1L;ESXR1 ESX1-related protein;OTTHUMP00000023765;extraembryonic, spermatogenesis, homeobox 1 homolog;extraembryonic, spermatogenesis, homeobox 1-like;homeobox protein ESX1 APPROVED protein-coding ENSG00000123576 14865 06503;08945 300154 REVIEWED 1606520 ESYT2 extended synaptotagmin-like protein 2 7 7 7 q36.3 152956246 153054446 - 158216450 158315080 - 158523689 158622319 - 6480464 17672888;16396496;15489334;15302935;14702039;12690205;12477932;12168954;11543631;10574462;20562859;22939629;22990118;21987572;17360437;21139048;21890473;22505724 57488 F2Z3K9;H7BXI1;Q9ULJ2 AACC02000072;AB033054;ABBA01032306;ABBA01032307;ABBA01032308;ABBA01032309;ABBA01032310;AC019084;AJ303365;AK001181;AK026710;AK056953;AK124091;AK126214;AK308824;AL833233;AMYH01018210;AY368150;BC013957;CH236954;CH471149;DQ993201;NM_020728 A0FGR8;AAH13957;AAI52807;AAR89381;ABJ97706;BAA86542;BAA91539;BAC85769;BAC86489;CAC33887;CAH10642;EAL23931;EAX04590;EAX04591;NP_065779 Hs.490795 1663822;1671181;1686172;1720973;1777614;1847755;1849477;2117928;2124075;2124912;2162467;2167291;2186539;5020948;5022200;5022322;5022578;5022588;5022651 A008Y29;D11S2560;D11S2921;D1S1423;D5S1597E;D7S2077E;D7S2310;D7S2781;D7S68;G35510;G59316;GDB:1317774;GDB:1318102;L18426;RH92435;STS-AA037744;STS-N29903;WI-11602;WIAF-1620 CHR2SYT;E-Syt2;FAM62B;KIAA1228 OTTHUMP00000200002;OTTHUMP00000200003;chr2 synaptotagmin;extended synaptotagmin-2;family with sequence similarity 62 (C2 domain containing) member B;family with sequence similarity 62 (C2 domain containing), member B protein-coding ENSG00000117868 22211 13053 VALIDATED 1348511 ETM1 essential tremor 1 7240710 9288103 2111 3486 181500;190300 1352412 ETM2 essential tremor 2 7240710 9399207 2112 1334801;1338382 D2S2150;D2S220 3487 733690 ESYT1 extended synaptotagmin-like protein 1 12 12 12 q13.2 56174129 56190606 + 54808321 54824722 + 56521986 56538460 + 6480464 8125298;21319273;22659450;17672888;15592455;15489334;14702039;12477932;10350628;9872452;11972353;16344560;22939629;18781797;21987572;21139048;21890473;21906983;21779181;22053931;22505724;22797925 23344 F8VZB1;Q9BSJ8 AB018290;ABBA01008405;ABBA01008406;AC034102;AJ346011;AK022790;AK025463;AK025878;AK074368;AK128730;AK225035;AK290337;AL050134;AMYH01004500;BC004998;BC013880;CH471054;DB100366;DQ993200;NM_001184796;NM_015292 AAH04998;ABJ97705;ACE87024;ACE87711;BAA34467;BAB15139;BAB15268;BAF83026;BAG51117;BAG54718;CAB43284;EAW96890;EAW96891;EAW96892;EAW96893;NP_001171725;NP_056107;Q9BSJ8 Hs.632729 1850558 RH44882 FAM62A;KIAA0747;MBC2 OTTHUMP00000243205;OTTHUMP00000243206;extended synaptotagmin-1;family with sequence similarity 62 (C2 domain containing), member A;membrane-bound C2 domain-containing protein protein-coding ENSG00000139641 29534 14367 VALIDATED 1313906 ETF1 eukaryotic translation termination factor 1 This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in coding and non-coding transcript variants. Pseudogenes of this gene are found on chromosomes 5, 7 and X. [provided by RefSeq, Jan 2012] 5 5 q31.1 137869687 137906802 - 137841782 137878989 - 6480464;6907045 9003791;7990965;9620853;9712840;12867083;19265422;19140327;16797113;16452507;16282590;16189514;15716307;15635413;15489334;12909007;12665801;12477932;12426392;12356746;11790298;11779511;11358506;10773672;10702684;10676813;10413110;9928949;22517631;7759135;1546371;1537561;18056425;18447585;20418372;20688868;15326224;18539146;19615732;18256688;22863883;22990118;23091004;21602268;16344560;18781797;21139048;21890473;21906983;22318606;22383581;15174051;23000965;23435318 2107 B7Z7P8;D6RCB3;D6RJE8;I3L492;P62495;Q96CG1 ABBA01068668;ABBA01068669;AC011385;AC113403;AF095901;AK302364;AK309875;AK312510;AL553004;AMYH01015642;AW131045;BC014269;BC088358;BT007374;CH471062;DB060174;DC297662;M75715;NM_004730;NR_045992;NR_045994;U90176;X80916;X81625 AAA36665;AAB49726;AAD43966;AAH14269;AAH88358;AAP36038;ABM81632;ABM84816;BAG35411;BAH13684;CAA57281;EAW62130;EAW62131;EAW62132;EAW62133;EAW62134;NP_004721;P62495 Hs.483494 1340019;1678429;1685449;5114055;7187367 D5S500;RH41003;RH79934;RH80626 D5S1995;ERF;ERF1;MGC111066;RF1;SUP45L1;TB3-1 OTTHUMP00000159485;OTTHUMP00000224067;OTTHUMP00000224068;eukaryotic peptide chain release factor subunit 1;eukaryotic release factor 1;polypeptide chain release factor 1;protein Cl1;sup45 (yeast omnipotent suppressor 45) homolog-like 1 APPROVED protein-coding ENSG00000120705 3477 02616 600285 REVIEWED 1313254 ETNK2 ethanolamine kinase 2 The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 177235433 177256557 - 202366814 202387645 - 204100190 204121307 - 737633;1580863;6480464;6907045 12477932 18953568;16861741;16189514;15161093;14702039;11044454;21177773;19536175 55224 B7Z1G7;B7ZC34;B7ZC35;H0Y771;J3KP68;Q5SXX4;Q5SXX7;Q5SXX8;Q9NVF9 AB073608;ABBA01027451;ABBA01027452;AK001623;AK293426;AK302145;AK316493;AL592146;AMYH01001661;BC010082;CH471067;DB454429;NM_018208 AAH10082;BAA91793;BAD38645;BAH11503;BAH13637;BAH14864;EAW91501;EAW91502;EAW91503;EAW91504;NP_060678;Q9NVF9 Hs.497469 1855446;2109293;2131581 D1S3616;ETNK2_9886;SHGC-76191 EKI2;FLJ10761;HMFT1716;RP11-74C13.2 EKI 2;OTTHUMP00000034313;OTTHUMP00000034314;ethanolamine kinase 2;ethanolamine kinase-like protein APPROVED protein-coding ENSG00000143845 25575 13283 609859 REVIEWED 1354191 ETFDH electron-transferring-flavoprotein dehydrogenase This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013] 4 4 q32-q35 159812727 159849292 + 159593277 159629842 + 1580863;2317589;6480464;7240710 14728676 8306995;8617498;19208393;17584774;17412732;16344560;15489334;12815589;12477932;12359134;12049629;14640977;17050691;18037314;19249206;19265687;19758981;20037589;20370797;20138856;20877624;22611163;21347544;21139048;21886157 2110 AAB24227;D6RAD5;D6RJF8;J3KND9;Q16134 ABBA01070208;AC107219;AF449444;AK293737;AK304838;AK311435;AK314803;AMYH01014644;BC011890;BX538129;BX957055;CH471056;DA319656;DA798232;DB221748;EU093082;EU093083;NG_007078;NM_001281737;NM_001281738;NM_004453;S69232 AAB24227;AAC60628;AAH11890;AAN03724;ABU55401;ABU55402;BAG37331;BAG57161;BAG65581;CAD98030;EAX04854;NP_001268666;NP_001268667;NP_004444;Q16134 Hs.155729 2151195;2179137;5014865;5015961 D12S1332;D15S1477;D4S3142;SHGC-59334 ETFQO;MADD ETF dehydrogenase;ETF-QO;ETF-ubiquinone oxidoreductase;OTTHUMP00000220566;OTTHUMP00000220838;electron transfer flavoprotein ubiquinone oxidoreductase;electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial APPROVED protein-coding ENSG00000171503 3483 01978 231675;231680 REVIEWED 1322274 ETHE1 ethylmalonic encephalopathy 1 This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009] 19 19 19 q13.31 40811624 40834029 - 48702711 48723236 - 44010871 44031396 - 1580863;6480464;7240710 19136963;18593870;16929096;16381901;16183799;15489336;15489334;15057824;14732903;12477932;12398897;11256614;11076863;16169070;23144459;18029348;20877624;17353187;21832049;23000965;21890473;21906983 23474 M0QX80;M0QXB5;M0QY80;O95571 ABBA01040862;AC018758;AI879202;AK309880;AK315346;AMYH01009839;BC008250;CH471126;D83198;NG_008141;NM_014297 AAG09063;AAH08250;BAA34595;BAG37744;CAL37682;EAW57195;EAW57196;EAW57197;NP_055112;O95571 Hs.7486 1337240;5491778 D19S537;ETHE1 HSCO;YF13H12 ethylmalonic encephalopathy protein 1;hepatoma subtracted clone one protein;persulfide dioxygenase ETHE1, mitochondrial;protein ETHE1, mitochondrial;sulfur dioxygenase ETHE1 APPROVED protein-coding ENSG00000105755 23287 09764 602473;608451 REVIEWED 1347524 ETFB electron-transfer-flavoprotein, beta polypeptide This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.3 56540221 56561484 - 51848409 51869672 - 1580863;2317589;6480464;7240710 14728676 12815589;7912128;8504797;8617498;19208393;19088074;16510302;15975918;15498874;15489334;14702039;12477932;10356313;8962055;8188225;1677763;20674745;18029348;20877624;21832049;22939629;21139048;23068445;21903359;22318606;22588007 2109 M0QY67;P38117 ABBA01068274;AC008750;AF370381;AF436663;AK055285;AK128845;AK291881;AL833205;AMYH01009952;BC093961;BC093963;BG281641;BG399783;CH471135;CR456827;HB887243;HC944652;NG_007115;NM_001014763;NM_001985;X71129;X76067 AAH93961;AAH93963;AAN03713;AAQ15217;BAF84570;BAG51494;CAA50441;CAB37832;CAG33108;CBF67773;CBU92647;EAW72004;NP_001014763;NP_001976;P38117 Hs.348531 1665735;1743791;5022637 D11S2766;GDB:373700;RH11652 FP585;MADD beta-ETF;electron transfer flavoprotein beta subunit;electron transfer flavoprotein beta-subunit;electron transfer flavoprotein subunit beta;electron transfer flavoprotein, beta polypeptide;electron-transferring-flavoprotein, beta polypeptide APPROVED protein-coding ENSG00000105379 3482 00557 130410;231680 REVIEWED 1342675 ETFA electron-transfer-flavoprotein, alpha polypeptide ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q23-q25 74295636 74390865 - 76508628 76603810 - 1580863;2317589;6480464;7240710 14728676 15489334;8617498;3170610;19208393;17689999;17081983;16510302;16344560;12815589;12477932;11756429;10356313;8962055;3053288;1882842;1430199;21308847;10423253;18029348;9334218;20674745;20877624;21219902;20562859;22939629;22863883;22491018;17314511;20186120;21081666;19805454;21963094;18624398;21139048;21890473;21906983 2108 H0YK49;H0YKF0;H0YL12;H0YL83;H0YLU7;H0YM12;H0YMU8;H0YNX6;H3BV91;J3KN60;P13804 AA557337;ABBA01060546;ABBA01060547;ABBA01060548;ABBA01060549;ABBA01060550;AC027243;AC091100;AF436657;AJ224002;AK292979;AK300044;AMYH01006820;AMYH01006821;BC015526;BC029995;BC034156;BC095457;BG261160;BT009796;BU176141;CH471136;DA838974;J04058;NG_007077;NM_000126;NM_001127716 AAA52406;AAH15526;AAH95457;AAN03712;AAP88798;BAF85668;BAG61855;CAA11802;EAW99221;EAW99222;NP_000117;NP_001121188;P13804 Hs.39925 1643950;1644134;1673687;2114424;2143932;2149988 D15S922;D15S925;STS-H78599;STS-J04058;WI-18782;WI-20018 EMA;GA2;MADD alpha-ETF;electron transfer flavoprotein alpha-subunit;electron transfer flavoprotein subunit alpha, mitochondrial;electron transfer flavoprotein, alpha polypeptide;glutaric aciduria II APPROVED protein-coding ENSG00000140374 3481 01979 231680;608053 REVIEWED 1350227 ETNPPL ethanolamine-phosphate phospho-lyase 4 4 4 q25 106958027 106978961 - 109882645 109903658 - 109663196 109684235 - 632008;6480464 7592550 14702039;12477932;20332099;21832049;21139048;22241472 64850 D6R9Y3;D6RE94;D6RFL9;D6RGG2;E7ENR6;Q8TBG4 ABBA01063767;ABBA01063768;AC097473;AJ298293;AK091888;AK294072;AK294235;AMYH01014454;BC022526;CH471057;DC311077;DC327590;NM_001146590;NM_001146627;NM_031279;NR_027474;NR_027475 AAH22526;AAY40946;BAC03766;BAH11666;BAH11710;CAC22253;EAX06235;EAX06236;EAX06237;NP_001140062;NP_001140099;NP_112569;Q8TBG4 Hs.106576 1656918 SHGC-59831 OTTHUMP00000219616;OTTHUMP00000219617;OTTHUMP00000219618;OTTHUMP00000219619;alanine--glyoxylate aminotransferase 2-like 1;ethanolamine-phosphate phospho-lyase APPROVED protein-coding ENSG00000164089 14404 10639 614682 VALIDATED 1603450 ETV3L ets variant 3-like 1 1 1 q23.1 130133025 130140792 - 155328460 155336224 - 157061835 157069600 - 18951430 440695 Q6ZN32 AA723297;ABBA01016640;AK131392;AL157713;AMYH01001441;CH471121;NM_001004341 BAD18543;EAW52891;NP_001004341;Q6ZN32 Hs.127138 FLJ16478 ETS translocation variant 3-like protein;OTTHUMP00000225052;ets variant gene 3-like protein-coding ENSG00000253831 33834 13365 VALIDATED 1317846 ETNK1 ethanolamine kinase 1 This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 27925902 27991433 + 22669343 22734875 + 22778076 22843608 + 1580863;6480464;6907045 11044454;15489334;12477932;11912161;20379614;19913121;20628086;21139048;21890473;21906983;22053931;22505724 55500 H0YFP7;H0YH69;Q9HBU6 AB074182;ABBA01067987;AC087241;AF207600;AK027113;AK074425;AL110180;AL117563;AL137750;AMYH01004325;BC006111;BC037324;BC045794;BC066907;BT007084;CH471094;CR749601;NM_001039481;NM_018638 AAF71220;AAH06111;AAH66907;AAP35747;ADZ15599;BAE45742;CAH56371;EAW96478;EAW96479;EAW96480;NP_001034570;NP_061108;Q9HBU6 Hs.29464 1643683;1684387;1685025;1697772;1758609 RH102410;RH92963;RH98845;SHGC-148915;STS-H56029 EKI;EKI 1;EKI1;Nbla10396 OTTHUMP00000239920;OTTHUMP00000239921;OTTHUMP00000239922;ethanolamine kinase 1;putative protein product of Nbla10396 APPROVED protein-coding ENSG00000139163 24649 09934 609858 REVIEWED 737031 ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1 This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 11 11 q23.3 127833870 127897371 - 128328656 128457453 - 1580863;2303822;2313849;2313847;2313850;2313901;6480464;6484113;6907045 17708355;17622743;19225563;1982251;1686010 17671502;17661355;17656364;17456046;17397260;17321669;17287278;17213822;17105191;16894529;16887814;16829517;16786167;16722933;16684505;16586544;16569638;16455618;16294212;16278291;16263717;16234432;16192649;16045329;15996661;15940256;15848191;15788656;15699632;15693893;15592518;15592455;15578430;15574387;15572696;15563472;15531915;15469934;15389378;15342556;15302318;15199062;15173033;15123671;15001984;14734780;14704859;14702039;14586398;14557674;12967474;12949792;12932931;12920221;12850290;12843180;12743594;12632078;12632071;12477932;12475968;12466970;12464608;12377649;12377648;12221090;12073053;12048211;12034715;11971908;11948414;11836635;11830328;11590145;11279115;10942770;10918595;10815800;10377039;10022910;9794229;9566892;9528793;9501572;9334186;9333025;9094628;9032233;8557686;8521493;8231246;7753825;3285299;3060801;2997781;2847145;2612216;1614856;1592264;1522903;18851979;10207087;9681824;11313879;10212281;10698492;11909962;15247905;2187191;8620536;19499154;19465391;19427971;19377509;19336585;19154409;19116245;19091791;19022222;18955504;18948081;18851945;18720385;18676374;18625704;18566588;18538735;18381358;18292499;18172009;18020712;17986575;17977828;17845581;17785952;17721441;20479932;20645833;18537194;18692240;19205872;19616560;19657377;19787252;19836356;19838193;19935876;19942620;20001963;20019798;20097731;20169177;20190752;20516000;9266972;20819682;20021863;20671229;16861237;20378371;20392592;20435626;20842667;21081489;17283532;21377967;20938207;22494801;21741415;10358095;20398657;23060436;23094960;22087647;21439064;21424114;21445343;21444677;21515670;22742857;22232738;22355253;21423203;21841808;20367922;16862185;21737519;21925842;21139048;21693764;21906983;21940109;22936014;23236436;23552426;19322201;22539964;21919915;22206665;22307076;22396784;19471022;22096509;22366814;22390030;7774816;21623185;22446963;22270366;18374905;21732343;22294049;22516263;23064684;23589550;20195357;21988832;22829018;22914732;23383271;23251661;23273568;21832049;22521293;22615925;17376198;22073215;22505724;22322590;23101665 2113 A8K725;B4DW78;P14921;Q96AC5 ABBA01023010;AK001630;AK291840;AK301405;AL832693;AMYH01004119;AP001995;AP003397;AY943926;BC017314;BG035366;BM468663;BP365215;BT019452;BT019453;BX640634;CA407336;CH471065;CR542254;J04101;M11921;NG_029555;NM_001143820;NM_001162422;NM_005238;S67063;X14798 AAA52409;AAA52410;AAB28747;AAH17314;AAV38259;AAV38260;AAY19514;BAF84529;BAG62940;CAA32903;CAA32904;CAE45783;CAG47050;EAW67709;EAW67710;EAW67711;EAW67712;NP_001137292;NP_001155894;NP_005229;P14921 Hs.369438 1644722;1688203;1797106;1797512;1856621;2173435;2175456;5494142 D11S4369;ETS1;ETS1_2320;RH138700;RH79103;RH80963;WI-18124;WS29 ETS-1;EWSR2;FLJ10768 Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1;OTTHUMP00000231009;OTTHUMP00000231010;OTTHUMP00000231011;OTTHUMP00000231012;ets protein;p54;protein C-ets-1;v-ets avian erythroblastosis virus E2 oncogene homolog 1;v-ets avian erythroblastosis virus E26 oncogene homolog 1 APPROVED protein-coding ENSG00000134954 3488 01260 164720 REVIEWED 6481401 ETV5-AS1 ETV5 antisense RNA 1 100873934 AC131156 APPROVED miscrna 40222 1351650 ETV2 ets variant 2 19 19 19 q13.12 32846129 32849256 + 40824487 40827613 + 36132647 36135773 + 1580863;6480464 12477932;12087183;1340465;18270322;16344560;15057824;14702039;16619273 2116 A6NFN5;B3KUL0;K7ERX2;O00321;Q3KNT2 AA885210;ABBA01018751;AC002115;AF000671;AK097439;AMYH01009728;BC040908;BC107123;BC107124;BC140746;BC144448;DB046527;NM_014209 AAB57630;AAD00861;AAI07124;AAI07125;AAI40747;AAI44449;AAI60032;BAG53472;NP_055024;O00321 Hs.194061 5124946 RH98938 ER71;ETSRP71;MGC129834;MGC129835 ETS translocation variant 2;OTTHUMP00000197798;OTTHUMP00000197799;ets variant gene 2;ets-related protein 71 protein-coding ENSG00000105672 3491 16871 609358 VALIDATED 1348851 ETV3 ets variant 3 1 1 1 q21-q23 130165650 130179574 - 155369600 155374801 - 157094459 157108383 - 1580863;6480464 18951430;18025162;17525531;16710414;15489334;14754893;12477932;12007404;8020980;18029348;21832049 2117 P41162 ABBA01016640;AF218540;AK304789;AK316274;AL157713;AMYH01001441;BC022868;CH471121;L16464;NM_001145312;NM_005240 AAA60949;AAH22868;AAK56846;ABM84081;ABM87757;BAG65539;BAH14645;EAW52888;EAW52889;NP_001138784;NP_005231;P41162 Hs.105636 1739403;2108761;2122196;2123451 D1S2332E;D1S3438;ETV3_3364.2;RH17623 FLJ79173;METS;PE-1;PE1;bA110J1.4 ETS domain transcriptional repressor PE1;ETS translocation variant 3;OTTHUMP00000032196;OTTHUMP00000032197;ets variant gene 3, ETS family transcriptional repressor;mitogenic Ets transcriptional suppressor protein-coding ENSG00000117036 3492 01282 164873 VALIDATED 1352353 ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2 This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 21 21 q22.2 39099719 39118749 + 40177231 40196879 + 1580863;6480464 14702039;14507917;12894593;12743594;12646185;12637547;12532432;12511603;12477932;12174931;12095911;11752456;11689681;11313931;11279115;11027273;10942770;10918595;10830953;10815800;10377039;10358095;10212281;9334186;3285299;3021321;2997781;2847145;15489334;15231748;2250910;18242510;18598946;8596630;11909962;16780588;19453261;18942749;18848526;18801734;18586674;18094719;18059336;17986575;17975022;17921261;17703088;16953216;16263717;15900611;15806151;15788656;15572696;18374905;22354960;2186967;9681824;20554528;19318269;19407855;19939245;20145133;20379614;20671229;21079520;21526717;14722092;20398657;21700929;22819965;22615925;21763315;21562315;22298639;21987572;22048266;23416888;22446105;21693764;22221250;22128184;12860972;22826236;21241890;21963094;22922762;23343470;23589550;22505724;23530240 2114 C9JAG2;P15036 AA452482;ABBA01011089;ABBA01011090;AF017257;AK000535;AK096841;AK315563;AL163278;AMYH01012240;AMYH01012241;AP001040;AP001041;AP001732;AV661268;BC017040;BC042954;BT006838;CH471079;J04102;M11922;NM_001256295;NM_005239;X55181 AAA52411;AAA52412;AAB94057;AAH17040;AAH42954;AAP35484;ABM84763;ABW03617;BAA95514;BAG37939;CAA38966;CAB90468;EAX09673;EAX09674;EAX09675;EAX09676;NP_001243224;NP_005230;P15036 Hs.644231 1644313;1704280;1741795;1742137;2172552;2181769;2184037;2184582;2186529;2190849;2217314 D21S1843;D21S1956;D21S1959;ETS2_3362;ETV2;GDB:185172;GDB:192320;SHGC-51836;SHGC-6939;SHGC-83279;WI-9128 ETS2IT1 OTTHUMP00000115973;OTTHUMP00000115974;OTTHUMP00000115976;oncogene ETS-2;protein C-ets-2;v-ets avian erythroblastosis virus E2 oncogene homolog 2;v-ets avian erythroblastosis virus E26 oncogene homolog 2;v-ets erythroblastosis virus E26 oncogene homolog 2 APPROVED protein-coding ENSG00000157557 3489 01263 164740 REVIEWED 1323762 ETV1 ets variant 1 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 7 7 p21.3 13897379 13995289 - 13930854 14031050 - 1580863;6480464 7700648;19223501;18726892;18628953;18594527;18474293;17671502;17634427;17632455;17505060;17390040;17032499;16344560;15561718;15489334;15146197;14747462;14702039;12947087;12917345;12853948;12690205;12569367;12477932;12213813;11551945;10597226;9681824;9110174;8889548;8619474;7651741;1340465;19465903;19718948;19789348;20104229;20160028;21036922;20927104;21298110;22901226;21559405;21673681;20062082;21622576;21572435;22351694;21689625;21988832;23284306;23512661;22425584;16055714 2115 B5MCT2;B7Z2C9;C9J0B7;C9J4P4;C9J9L1;C9JQH6;C9JX69;F5GXR2;F8WEH6 AACC02000009;AB209202;ABBA01056596;AC004857;AC004909;AF070641;AF109632;AK055368;AK293802;AK294572;AK294755;AK299693;AK309190;AK311089;AK311134;AK311194;AK311707;AK312863;AK316007;AMYH01017080;BC042950;BC045776;BC098403;BC106762;BC106763;BF346325;BU737178;CH236948;CH471073;CN396908;CN396911;CR627389;DA114165;DB093597;DB099964;DC308837;EF632110;NG_029795;NM_001163147;NM_001163148;NM_001163149;NM_001163150;NM_001163151;NM_001163152;NM_004956;U17163;X87175 AAA79844;AAC62435;AAD29877;AAD29878;AAH98403;AAI06763;AAI06764;ABZ92002;BAD92439;BAG35715;BAH11600;BAH11815;BAH11870;BAH13104;BAH14378;CAA60642;CAH10484;EAL24294;EAW93654;EAW93655;EAW93656;EAW93657;EAW93658;EAW93659;EAW93660;EAW93661;EAW93662;NP_001156619;NP_001156620;NP_001156621;NP_001156622;NP_001156623;NP_001156624;NP_004947;P50549 Hs.22634 1655251;1656387;1690980;1701104;1725131;1746985;1847569;1849893;2147907;2181733;2189479;5092974 A009D20;D7S1992;D7S2766;D7S2837;Etv1;G32445;GDB:1318567;MARC_7327-7328:992008337:1;RH104180;RH118869;RH26805;SHGC-55970 DKFZp781L0674;ER81;MGC104699;MGC120533;MGC120534 ETS translocation variant 1;OTTHUMP00000201615;OTTHUMP00000201616;OTTHUMP00000201617;OTTHUMP00000201618;OTTHUMP00000201619;OTTHUMP00000201620;OTTHUMP00000201621;OTTHUMP00000201622;ets variant gene 1;ets-related protein 81 APPROVED protein-coding ENSG00000006468 3490 02765 600541 REVIEWED 1320007 ETV5 ets variant 5 3 3 q28 187246804 187309571 - 185764106 185826901 - 1580863;6480464 8941378;21520040;8152800;19079260;18172298;17638886;17489097;16615918;16613858;15857832;15652352;15620692;15534105;15489334;12477932;12387735;12036888;11840567;11509567;8661127;7559555;8798622;20571754;20634891;19443906;19692490;19746409;19812171;19851340;20215397;20520848;20935630;20647002;20970160;21102462;20712903;20724581;20816195;21832049;22266854;21988832;22589409;22771031;20062082;19322201;21282464;21572435;21693764;19471022;21689625;22968857;22425584 2119 B7Z7D7;C9J0Z2;C9J5A5;C9JMF0;C9JR66;H7C1D2;P41161 ABBA01058396;ABBA01058397;AC108671;AC112649;AC131156;AK301878;AMYH01013732;BC007333;BT006713;CH471052;CR456767;NM_004454;X76184;X96375;X96381 AAH07333;AAP35359;ABM81600;ABM84781;BAH13573;CAA53778;CAA65246;CAG33048;EAW78200;NP_004445;P41161 Hs.43697 1650718;1694810;1735222;1856641;2123235;2173535;5037662 D3S2851E;D3S2889E;D3S4339;G43635;RH65420;SHGC-12013;STS-X76184 ERM ETS translocation variant 5;OTTHUMP00000210259;OTTHUMP00000210260;ets-related molecule;ets-related protein ERM protein-coding ENSG00000244405 3494 09035 601600 VALIDATED 1315190 ETV4 ets variant 4 17 17 q21 38960737 38979288 - 41605211 41623800 - 1580863;6480464 7774926;18029348;19307308;19129951;18794152;18687701;18644862;18593949;18511876;18510939;18474293;18451133;18425363;17938207;17585876;17475671;17467662;17060941;16912160;16786139;16752078;16738319;16678123;16652376;16585160;16297865;16158187;15800927;15756447;15695237;15629152;15611127;15489334;15461591;15387369;15342556;14976201;14718574;12779089;12684413;12477932;10949935;10564827;8605035;8530053;8441666;7987831;7796532;19483189;19845529;20211142;21087211;20980337;21143918;21266854;21673681;22922762;21832049;21831961;20062082;21736557;21679465;21613609;21572435;21689625;22425584;22505724 2118 B7Z5F4;K7EMW0;P43268 ABBA01028407;ABBA01028408;AC068675;AF095886;AF095887;AF095888;AF095889;AF095890;AK290429;AK298872;AK299019;AK312934;AK315961;AMYH01008408;BC007242;BC016623;BF304101;BM013535;BP268896;BU166857;CH471178;CX783903;D12765;DB493072;DC375462;DQ396625;DQ396626;DR156106;EU693078;EU693079;NM_001079675;NM_001261437;NM_001261438;NM_001261439;NM_001986;U18018 AAA95991;AAD09186;AAH16623;ABM82991;ABM86185;BAA02234;BAF83118;BAH12890;BAH12929;BAH14332;EAW51673;EAW51674;EAW51675;NP_001073143;NP_001248366;NP_001248367;NP_001248368;NP_001977;P43268 Hs.434059 1685564;1733812;2107063;2159456 D17S1329;ETV4_3365.2;RH76788;STS-H27202 E1A-F;E1AF;PEA3;PEAS3 E1A enhancer binding protein;ETS translocation variant 4;EWS protein/E1A enhancer binding protein chimera;adenovirus E1A enhancer-binding protein;ets variant gene 4 (E1A enhancer binding protein, E1AF);ets variant gene 4 (E1A enhancer-binding protein, E1AF);polyomavirus enhancer activator 3 homolog;polyomavirus enhancer activator-3 protein-coding ENSG00000175832 3493 02833 600711 VALIDATED 1353246 ETV7 ets variant 7 The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011] 6 6 6 p21 37888649 37910150 - 36441949 36463445 - 36321998 36355577 - 1580863;6480464 10828014;15743832;15489334;14702039;14574404;12588862;12477932;11108721;11032031;8125298;20379614;18029348;20211142;21890473;21988832 51513 Q9NZ68 ABBA01038257;AF116508;AF116509;AF116510;AF147782;AF175387;AF218235;AF218365;AF218366;AJ276205;AK026144;AK122796;AK223424;AK301011;AK303829;AMYH01016272;BC035853;CH471081;JB157966;NG_029211;NM_001207035;NM_001207036;NM_001207037;NM_001207038;NM_001207039;NM_001207040;NM_001207041;NM_016135;Z84484 AAD33989;AAD43250;AAD43251;AAD43252;AAF25007;AAF28350;AAF44742;AAF44743;AAH35853;ABZ92372;BAD97144;BAG53734;BAG62628;BAG64776;CAC17012;CCW44093;EAX03885;EAX03886;EAX03887;EAX03888;EAX03889;EAX03890;NP_001193964;NP_001193965;NP_001193966;NP_001193967;NP_001193968;NP_001193969;NP_001193970;NP_057219;Q9Y603 Hs.272398 TEL-2;TEL2;TELB ETS translocation variant 7;ETS-related protein Tel2;Ets transcription factor TEL-2b;OTTHUMP00000016290;OTTHUMP00000016291;TEL2 oncogene;ets variant gene 7 (TEL2 oncogene);tel-related Ets factor;transcription factor ETV7;transcription factor Tel-2;transcription factor ets APPROVED protein-coding ENSG00000010030 18160 16095 605255 REVIEWED 1602695 EVA1B eva-1 homolog B (C. elegans) 1 1 1 p34.3 35062757 35064880 - 36560219 36562342 - 36787632 36789755 - 6480464 16710414;15489334;14702039;12477932 55194 Q9NVM1 ABBA01023300;ABBA01023301;ABBA01023302;AK001509;AL591845;AMYH01000495;BC006241;BC071697;CH471059;GN344031;NM_018166 AAH06241;AAH71697;BAA91729;CAY55951;EAX07377;EAX07378;NP_060636;Q9NVM1 Hs.87016 1665865;1856839 SHGC-58104;SHGC-74603 C1orf78;FAM176B;FLJ10647;RP11-268J15.2 OTTHUMP00000009598;family with sequence similarity 176, member B;hypothetical protein LOC55194;protein FAM176B;protein eva-1 homolog B APPROVED protein-coding ENSG00000142694 25558 07690 PROVISIONAL 1345405 ETV6 ets variant 6 This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008] 12 12 p13 11694055 11939603 + 11802788 12048336 + 1581019;1580863;6480464;7240710 12203785 15104290;9171997;7731705;12590135;7761424;18029348;19475667;19345670;19179469;19144660;19129484;19100516;19024110;19011601;18940475;18767146;18635414;18617057;18462362;18462252;18445843;18426905;18391951;18305557;18281529;18212042;18202291;18172310;17980166;17972957;17956600;17889709;17854676;17690704;17673463;17503961;17366548;17344859;17285576;17095626;17077140;17015828;16914570;16898416;16737910;16673018;16572202;16386788;16307024;16278392;16105979;16081688;15970674;15958056;15887243;15806161;15761153;15729383;15704129;15489334;15328172;15229229;15179033;15142881;15054045;14726384;14668342;12893822;12737628;12626745;12588862;12527908;12526921;12505259;12477932;12450792;12435397;12393285;12210491;12127395;12091359;12080468;11861295;11861293;11731410;11483520;11078523;10702799;10502316;10477709;10377438;9651344;9462753;9360930;8889549;8889548;8743990;8653712;8168137;7805037;7780150;18928518;20844136;2687768;9695962;15143164;22373549;19913121;20628086;20197715;17579016;18476590;19427022;19665068;19710703;19896186;19956635;20164181;20379614;20412772;20589932;21157892;20835243;20658612;20400516;20190817;20804916;20807887;21029724;21156245;16055720;16341674;20713965;21212293;21212294;22569213;11439334;11001911;20798944;21401966;21576634;21457573;21532337;22615925;21897076;19850743;21803420;21900195;21569007;21693764;21949683;22028862;22162831;22162288;22404039;22262849;21224468;21869842;19471022;22076464;22094587;20963938;19322201;22578774;20881960;11314018;23090680;22792062;23000965;23171811;23382691;22634393 2120 H0YG25;J3KN52;P41212 AA205762;AA452592;ABBA01067826;AC007450;AC084358;AC084430;AI660081;AK289441;AM181353;AMYH01004284;AV722693;BC020284;BC043399;BC061911;BF510432;BG741145;BM829795;BQ003277;BQ641702;BU681757;CB243807;CB962155;CB996610;CH471094;FR719953;NG_011443;NM_001987;T79261;U11732;U45432;U61375;U63312;U63313;U81830;U81834;Z35761 AAA19786;AAB17016;AAB17134;AAB17135;AAB39862;AAB39882;AAC50690;AAH43399;ABZ92003;BAF82130;CAA84815;CAJ57643;EAW96240;NP_001978;P41212 Hs.504765 1334824;1646956;1651963;1656774;1670013;1670865;1677546;1685486;1690278;1705742;1709720;1719379;1734004;1734006;1772286;1773323;1797514;2132121;2132783;2134298;2141664;2170629;2185325 D12S1095;D12S1114;D12S1898;D12S2099;D12S89;ETV6_1939;G17650;RH123417;RH15745;RH45790;RH69295;RH70151;RH78294;RH80259;RH91343;SGC38012;SHGC-52601;SHGC-83462;SHGC-86351;STS-U11732;STS-U45431;STS-U45432;WI-20943 TEL;TEL/ABL ETS translocation variant 6;ETS-related protein Tel1;OTTHUMP00000238976;TEL1 oncogene;ets variant gene 6 (TEL oncogene);transcription factor ETV6 APPROVED protein-coding 3495 15976 600618;601626 REVIEWED 1321308 EVC2 Ellis van Creveld syndrome 2 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 p16.2-p16.1 5615051 5761195 - 5564146 5711275 - 1302823;1600212;6480464;7240710 10700184;12571802 19251731;18454448;16404586;12477932;12468274;12136126;11076863;15231748;17024374;17547743;19810119;20087401;20184732;19759913;23026208;21199751;21815252;21533779;23220543 132884 E9PFT2;Q86UK5 AB083067;ABBA01008259;ABBA01008260;ABBA01008261;ABBA01008262;ABBA01008263;AC114738;AC116613;AMYH01013906;AW137166;AY152402;AY152403;AY185210;BC143836;BG755658;CH471131;NG_015821;NM_001166136;NM_147127 AAI11456;AAN86577;AAN86578;AAO22066;AAY41034;AAY41048;BAC06590;EAW82412;EAW82413;EAW82414;NP_001159608;NP_667338;Q86UK5 Hs.87306 1661801;2107065;2147653;2174765 D4S2354;EVC2__7605;G16701;G33508 LBN OTTHUMP00000155147;OTTHUMP00000155148;OTTHUMP00000184918;ellis-van Creveld syndrome protein 2;limbin APPROVED protein-coding ENSG00000173040 19747 06269 225500;607261 REVIEWED 1350871 EVI5 ecotropic viral integration site 5 1 1 p22.1 92746841 93030549 - 92974253 93257961 - 1580863;6480464 16439210;9618176;19506219;19077034;18401352;17229837;16764853;16710414;16565220;16033705;15146197;21833088;19525955;19834503;19865102;20008790;20087403;17099728;20686565;19322201 7813 F5H4R0;O60447;Q59FE7 AB209513;AB449875;ABBA01045532;ABBA01045533;ABBA01045534;ABBA01045535;ABBA01045536;ABBA01045537;ABBA01045538;ABBA01045539;ABBA01045540;ABBA01045541;AC104332;AC104456;AF008915;AL133332;AL354890;AMYH01000798;AMYH01000799;AMYH01000800;CN334472;NM_005665 AAC16031;AAI41545;AAI56794;BAD92750;BAH16618;NP_005656;O60447 Hs.594434 1334783;1338601;1339067;1664535;1678279;1730574;1751577;1771950;1787600;1851825;1858036;1870646;2108069;2115255;2118539;2126807;2170756;2178954;2187499;5015404;5015959;5016478;5019765;5022200;5022588;5037552 A009A23;A009Q14;AL009335;AL009825;Cda0oc09;D10S2448;D1S182;D1S2479;D1S2776;D1S406;D5S1597E;D7S474;D8S2279;EVI5_8763;G31088;G32770;GDB:434012;L17705;L18426;REN5996;RH91126;SGC32492;SHGC-105578;SHGC-155928;SHGC-53279;SHGC-75139 NB4S EVI-5;OTTHUMP00000012581;dJ846D11.1 (ecotropic viral integration site 5);ecotropic viral integration site 5 protein homolog;neuroblastoma stage 4S gene protein protein-coding ENSG00000067208 3501 04249 602942 VALIDATED 1604577 EVA1A eva-1 homolog A (C. elegans) 2 2 2 p12 75550740 75628141 - 75572952 75650356 - 75719444 75796848 - 6480464 18029348;17492404;15815621;15498874;15489334;15342556;14702039;12477932;16169070;20379614;21139048;23000965;23098460;23251661;23509613 84141 B8ZZF5;C9J5M4;C9JX09;Q9H8M9 ABBA01075623;ABBA01075624;AC007099;AF177337;AK023453;AMYH01010456;AMYH01010457;AW016395;BC016157;BC063016;BE892427;BP276065;CH471053;CR457314;NM_001135032;NM_032181 AAG17981;AAH16157;AAH63016;AAY14774;BAB14580;CAG33595;EAW99591;EAW99592;EAW99593;EAW99594;NP_001128504;NP_115557;Q9H8M9 Hs.302346 1670337;1707572;1848752;2116286;2136589 RH1524;RH48425;RH69495;SHGC-84597;WI-15805 FAM176A;FLJ13391;TMEM166 OTTHUMP00000160452;OTTHUMP00000202774;OTTHUMP00000202775;OTTHUMP00000202776;OTTHUMP00000202777;family with sequence similarity 176, member A;protein FAM176A;protein eva-1 homolog A;transmembrane protein 166 APPROVED protein-coding ENSG00000115363 25816 07827 VALIDATED 1342513 EVC Ellis van Creveld syndrome This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008] 4 4 p16 5763825 5866932 + 5712924 5816031 + 1302823;1580863;6480464;7240710 10700184 19251731;19115052;18947413;18454448;17024374;15492864;15368503;12477932;10802674;8889548;8661097;12571802;19913121;20628086;20634891;19810119;20087401;20379614;19744229;21199751;22219177 2121 E9PCN4;P57679 ABBA01008263;ABBA01008264;AC105915;AC116613;AF216184;AF216185;AF239742;AK025394;AMYH01013906;AMYH01013907;AMYH01013908;BC085608;BM670090;NG_008843;NM_153717 AAF37216;AAF37217;AAF44682;AAH85608;AAY40958;AAY41049;NP_714928;P57679 Hs.646899;Hs.649902 1650472;1674292;1684443;1753351;1773747;2117924;2124428;2138153;2153331;5021898;7186313 D4S431;D4S562;D4S843;G33862;G34166;SHGC-107187;SHGC-25092;SHGC-32439;SHGC-57712;SHGC-8564;ha2448 DWF-1;EVC1;EVCL;MGC105107 OTTHUMP00000115495;ellis-van Creveld syndrome protein APPROVED protein-coding ENSG00000072840 3497 05319 193530;225500;604831 REVIEWED 1316841 EVA1C eva-1 homolog C (C. elegans) 21 21 21 q22.11 18968379 19071327 + 32706623 32809568 + 33784752 33887697 + 6480464 17672918;15489334;12975309;12477932;11707072;18851979;19470522;20379614;21906983 59271 A6ND58;B3KWG0;B5MC74;C9JS02;F8WEK6;P58658 ABBA01057313;ABBA01057314;ABBA01057315;ABBA01057316;AF358258;AK125013;AK126660;AMYH01012199;AMYH01012200;AMYH01012201;AP000269;AP000270;AP000271;AP000272;AY040087;AY358787;BC038710;BX373211;CH471079;NM_058187 AAH38710;AAK74135;AAL40411;AAQ89147;BAC86633;BAG54122;EAX09870;EAX09871;EAX09872;EAX09873;NP_478067;P58658 Hs.208358 1339185;1340946;1644822;1660192;1662590;1665297;1687992;1717715;1776753;1798358;1798622;1798790;1800150;1800646;1802786;1804234;1805008;1805850;1805932;1807016;1807018;1808372;1809304;1810106;1810758;1812794;1814984;1815320;1816534;1818792;1820116;1820658;1821042;1821128;1821848;1822880;1823116;1824786;1825042;1825118;1825256;1825258;1825736;1825980;1827132;1827718;1828362;1829206;1830188;1830654;1830982;1831160;1831734;1833862;1834048;1834486;1834548;1835684;1836090;1836690;1838314;1838738;1839150;1839252;1839588;1841320;1841684;1841806;1842506;1842974;1843202;1843348;1843636;1843900;1844026;1844088;1844518;1845492;1845572;1845742;2019864;2019866;2019868;2019870;2019872;2019874;2019876;2019878;2019880;2019882;2019884;2019886;2019888;2019890;2019892;2019894;2019896;2019898;2019900;2019902;2019904;2019906;2019908;2019910;2019912;2019914;2019916;2019918;2019920;2019922;2019924;2019926;2019928;2019930;2019932;2019934;2019936;2019938;2019940;2019942;2019944;2019946;2019948;2019950;2019952;2019954;2019956;2019958;2019960;2019962;2019964;2019966;2019968;2019970;2019972;2019974;2019976;2019978;2019980;2019982;2019984;2019986;2019988;2019990;2019992;2019994;2019996;2019998;2020000;2020002;2020004;2020006;2020008;2020010;2020012;2020014;2020016;2020018;2020020;2020022;2020026;2020028;2020030;2020032;2020034;2020036;2020038;2020040;2020042;2020044;2020046;2020048;2020050;2020052;2020054;2020056;2020058;2020060;2020062;2020066;2020068;2020070;2020072;2020074;2020076;2020078;2020080;2020082;2020084;2020086;2020088;2020090;2020092;2020094;2020096;2020098;2020100;2020102;2020104;2020106;2020108;2020110;2020112;2020114;2020116;2020118;2020120;2020122;2020124;2020126;2020128;2020130;2020132;2020134;2020136;2020138;2020140;2020142;2020144;2020146;2020148;2020150;2020152;2020154;2020156;2020158;2020160;2020162;2020164;2020166;2020168;2020170;2020172;2020174;2020176;2020178;2020180;2020182;2020184;2020186;2020188;2020190;2020192;2020194;2020196;2020198;2020200;2020202;2020204;2020206;2020208;2020210;2020212;2020214;2020216;2020218;2020220;2020222;2020224;2020226;2020228;2020230;2020232;2020234;2020236;2020238;2020240;2020242;2020244;2020246;2020248;2020250;2020252;2020254;2020256;2020258;2020260;2020262;2020264;2020266;2020268;2020270;2020272;2020274;2020276;2020278;2020280;2020282;2020284;2020286;2020288;2020290;2020292;2020294;2020296;2020298;2020300;2020302;2020304;2020306;2020308;2020310;2020312;2020314;2020316;2020318;2020320;2020322;2020324;2020326;2020328;2020330;2020332;2020334;2020336;2020338;2020340;2020342;2020344;2020346;2020348;2020350;2020352;2020354;2020356;2020358;2020360;2020362;2020364;2020366;2020368;2020370;2020372;2020374;2020376;2020378;2020380;2020382;2020384;2020386;2020388;2020390;2020392;2020394;2020396;2020398;2020400;2020402;2020404;2020406;2020408;2020410;2020412;2020414;2020416;2020418;2020420;2020422;2020424;2020426;2020428;2020430;2020432;2020434;2020436;2020438;2020440;2020442;2020444;2020446;2020448;2020450;2020452;2020454;2020456;2020458;2020460;2020462;2020464;2020466;2020468;2020470;2020472;2020474;2020476;2020478;2020480;2020482;2020484;2020486;2020488;2020490;2020492;2020494;2020496;2020498;2020500;2020502;2020504;2020506;2020508;2020510;2020512;2020514;2020516;2020518;2020520;2020522;2020524;2020526;2020528;2020530;2020532;2020534;2020536;2020538;2020540;2020542;2020544;2020546;2020548;2020550;2020552;2020554;2020556;2020558;2020560;2020562;2020564;2020566;2020568;2020570;2020572;2020574;2020576;2020578;2020580;2020582;2020584;2020586;2020588;2020590;2020592;2020594;2020596;2020598;2020600;2020602;2020604;2020606;2020608;2020610;2020612;2020614;2020616;2020618;2020620;2020622;2020624;2020626;2020628;2020630;2020632;2020634;2020636;2020638;2020640;2020642;2020644;2020646;2020648;2020650;2020652;2020654;2020656;2020658;2020660;2020662;2020664;2020666;2020668;2020670;2020672;2020674;2020676;2020678;2099800;2099802;2099804;2099806;2099808;2099810;2099812;2099814;2099816;2099818;2099820;2099822;2099826;2099828;2099830;2099832;2099834;2099836;2099838;2099840;2099842;2099844;2099846;2099848;2099850;2099852;2099854;2099856;2099858;2099860;2099862;2099864;2099866;2099868;2099870;2099872;2099874;2099876;2099878;2099880;2099882;2099884;2099886;2099888;2099890;2099892;2099894;2099896;2099900;2099902;2099904;2099906;2099908;2099910;2099912;2099914;2099916;2099918;2099920;2115036;2148467;2158425;2166497;2166499;2181352;5112934;5112936 D21S1413;D21S1819;D21S1844;D21S1967;D21S224;D21S262;ECD00014;ECD00150;ECD00235;ECD00931;ECD01184;ECD02280;ECD03040;ECD03444;ECD03876;ECD03919;ECD04473;ECD04474;ECD05167;ECD05642;ECD06045;ECD06374;ECD07408;ECD08523;ECD08696;ECD09309;ECD10460;ECD11131;ECD11404;ECD11597;ECD11641;ECD12010;ECD12528;ECD12646;ECD13491;ECD13620;ECD13660;ECD13729;ECD13730;ECD13976;ECD14099;ECD14681;ECD14980;ECD15306;ECD15730;ECD16227;ECD16463;ECD16627;ECD16716;ECD17004;ECD18077;ECD18172;ECD18391;ECD18422;ECD18999;ECD19206;ECD19509;ECD20331;ECD20547;ECD20754;ECD20806;ECD20977;ECD21856;ECD22039;ECD22102;ECD22460;ECD22695;ECD22809;ECD22882;ECD23028;ECD23161;ECD23226;ECD23257;ECD23473;ECD23964;ECD24004;ECD24090;G34718;REN80880;REN80881;REN80882;REN80883;REN80884;REN80885;REN80886;REN80887;REN80888;REN80889;REN80890;REN80891;REN80892;REN80893;REN80894;REN80895;REN80896;REN80897;REN80898;REN80899;REN80900;REN80901;REN80902;REN80903;REN80904;REN80905;REN80906;REN80907;REN80908;REN80909;REN80910;REN80911;REN80912;REN80913;REN80914;REN80915;REN80916;REN80917;REN80918;REN80919;REN80920;REN80921;REN80922;REN80923;REN80924;REN80925;REN80926;REN80927;REN80928;REN80929;REN80930;REN80931;REN80932;REN80933;REN80934;REN80935;REN80936;REN80937;REN80938;REN80939;REN80940;REN80941;REN80942;REN80943;REN80944;REN80945;REN80946;REN80947;REN80948;REN80949;REN80950;REN80951;REN80952;REN80953;REN80954;REN80955;REN80956;REN80962;REN80963;REN80967;REN80969;REN80970;REN80971;REN80972;REN80973;REN80974;REN80975;REN80976;REN80977;REN80978;REN80979;REN80980;REN80981;REN80982;REN80983;REN80984;REN80985;REN80986;REN80987;REN80989;REN80992;REN80994;REN80995;REN80996;REN80997;REN80998;REN80999;REN81000;REN81003;REN81004;REN81005;REN81006;REN81007;REN81008;REN81009;REN81010;REN81011;REN81012;REN81013;REN81014;REN81015;REN81016;REN81017;REN81018;REN81019;REN81020;REN81021;REN81022;REN81023;REN81024;REN81025;REN81026;REN81027;REN81028;REN81029;REN81030;REN81031;REN81032;REN81033;REN81034;REN81035;REN81036;REN81037;REN81038;REN81039;REN81040;REN81042;REN81043;REN81045;REN81046;REN81047;REN81048;REN81049;REN81050;REN81051;REN81053;REN81054;REN81055;REN81057;REN81058;REN81059;REN81060;REN81061;REN81062;REN81065;REN81066;REN81067;REN81068;REN81069;REN81070;REN81071;REN81072;REN81073;REN81074;REN81075;REN81076;REN81077;REN81078;REN81079;REN81080;REN81081;REN81082;REN81083;REN81084;REN81085;REN81086;REN81087;REN81088;REN81089;REN81090;REN81091;REN81092;REN81093;REN81094;REN81095;REN81096;REN81097;REN81098;REN81099;REN81100;REN81101;REN81102;REN81103;REN81104;REN81105;REN81106;REN81107;REN81108;REN81109;REN81110;REN81111;REN81112;REN81113;REN81114;REN81115;REN81116;REN81117;REN81118;REN81119;REN81120;REN81121;REN81122;REN81123;REN81124;REN81125;REN81126;REN81127;REN81128;REN81129;REN81130;REN81131;REN81132;REN81133;REN81134;REN81135;REN81136;REN81137;REN81138;REN81139;REN81140;REN81141;REN81142;REN81143;REN81144;REN81145;REN81146;REN81147;REN81148;REN81149;REN81150;REN81151;REN81152;REN81153;REN81154;REN81155;REN81156;REN81157;REN81158;REN81159;REN81160;REN81161;REN81162;REN81163;REN81164;REN81165;REN81166;REN81167;REN81168;REN81169;REN81170;REN81171;REN81172;REN81173;REN81174;REN81175;REN81176;REN81177;REN81178;REN81179;REN81180;REN81181;REN81182;REN81183;REN81184;REN81185;REN81186;REN81187;REN81188;REN81189;REN81190;REN81191;REN81192;REN81193;REN81194;REN81195;REN81196;REN81197;REN81198;REN81199;REN81200;REN81201;REN81202;REN81203;REN81204;REN81205;REN81206;REN81207;REN81208;REN81209;REN81210;REN81211;REN81212;REN81213;REN81214;REN81215;REN81216;REN81217;REN81218;REN81219;REN81220;REN81221;REN81222;REN81223;REN81224;REN81225;REN81226;REN81227;REN81228;REN81229;REN81230;REN81231;REN81232;REN81233;REN81234;REN81235;REN81236;REN81237;REN81238;REN81239;REN81240;REN81241;REN81242;REN81243;REN81244;REN81245;REN81246;REN81247;REN81248;REN81249;REN81250;REN81255;REN81256;REN81257;REN81258;REN81260;REN81261;REN81262;REN81263;REN81264;REN81265;REN81266;REN81267;REN81268;REN81269;REN81270;REN81271;REN81272;REN81273;REN81274;REN81275;REN81276;REN81277;REN81278;REN81281;REN81282;REN81286;REN81287;REN81288;REN81290;REN81291;REN81293;REN81294;REN81295;REN81296;REN81297;REN81298;REN81299;REN81300;REN81301;REN81302;REN81303;REN81304;REN81305;REN81306;REN81307;REN81308;REN81309;REN81310;REN81311;REN81312;REN81313;REN81314;REN81315;REN81316;REN81317;REN81318;REN81319;REN81320;RH121764;RH36093;RH93104;SHGC-37672;SHGC-51923;SHGC-52066;SHGC-87586;SHGC-87594;stSG606377;stSG606378;stSG606379;stSG606380;stSG606381;stSG606382;stSG606383;stSG606384;stSG606385;stSG606386;stSG606387;stSG606388;stSG606398;stSG606399;stSG606402;stSG606403;stSG606404;stSG606405;stSG606406;stSG606407;stSG606408;stSG606410;stSG606411;stSG606412;stSG606413;stSG606414;stSG606415;stSG606416;stSG606417;stSG606418;stSG606419;stSG606420;stSG606421;stSG606422;stSG606423;stSG606424;stSG606426;stSG606427;stSG606428;stSG606431;stSG606432;stSG606433;stSG606434;stSG606435;stSG606436;stSG606437;stSG606442;stSG606443;stSG606445;stSG606446;stSG606449;stSG606451;stSG606452;stSG606454;stSG606455;stSG606456;stSG606457;stSG606458;stSG606459 B18;B19;C21orf63;C21orf64;EVA-1;EVA1;FAM176C;PRED34;SUE21 OTTHUMP00000067387;OTTHUMP00000067388;OTTHUMP00000197732;eva-1 homolog;family with sequence similarity 176, member C;hypothetical protein LOC59271;protein FAM176C;protein eva-1 homolog C;uncharacterized protein C21orf63 APPROVED protein-coding ENSG00000166979 13239 10760 VALIDATED 1345834 EVR1 exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome) 7240710 1598965 2126 3504 133780 1348376 EVR2 exudative vitreoretinopathy 2 (X-linked) 7558002 2127 3505 7243076 EVX1-AS EVX1 antisense RNA 16344560 101410536 DA866249;DB260732;DB455833 2059552;2059562 REN100951;REN100956 EVX1-AS1 miscrna 40223 1347396 EVI2B ecotropic viral integration site 2B 17 17 17 q11.2 26551516 26561851 - 26654914 26665256 - 29630788 29641130 - 1580863;6480464 18029348;1903357;17632510;16344560;12477932;2117566;2114220;1899288;1719426;1639383 2124 B7Z4A7;P34910;Q9BRW1 AA251185;ABBA01014963;AC134669;AK297087;AK312822;AMYH01008320;AW576194;BC005926;CH471147;DA677356;L05367;M60829;M60830;NG_009018;NM_006495 AAA35816;AAH05926;ABM84046;ABM87395;BAG35679;BAH12493;EAW80277;EAW80278;NP_006486;P34910 Hs.5509 1651711;1653633;1663175;1855580 D17S2051;RH17711;RH68548;SHGC-34851 CD361;D17S376;EVDB EVI-2B;OTTHUMP00000163769;ecotropic viral integration site 2B protein homolog;protein EVI2B protein-coding ENSG00000185862 3500 08867 158381 VALIDATED 1344299 EVX1 even-skipped homeobox 1 This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27271101 27275129 + 27248689 27252717 + 27282164 27286192 + 1580863;6480464 1684419;12853948;12690205;9847074;7499236;20445134;22178155;22145905 2128 B4DQJ0;F8W9J5;J3QQJ1;P49640 AACC02000007;ABBA01056763;AC004080;AK298822;AK299188;AK314155;AMYH01017133;CH236948;CH471073;NM_001989;U68781;U68782;X60655 AAB07598;AAI52724;BAG60952;BAG61232;CAA43062;EAL24216;EAW93892;NP_001980;P49640 Hs.369879 1723497;1798910;1799588;1801384;1803566;1811382;1823588;1824098;2059536;2059538;2059540;2059542;2059544;2059546;2059548;2059550;2059552;2059554;2059556;2059558;2059560;2059564;2059566;2059568;2059570;2059572;2059574;2059576;2059578;2059580;2059582;2059584;2059586;2059588;2160283;2192320;2192322;5024693 ECD00296;ECD00646;ECD01565;ECD02685;ECD06689;ECD12886;ECD13145;EVX1;REN100943;REN100944;REN100945;REN100946;REN100947;REN100948;REN100949;REN100950;REN100951;REN100952;REN100953;REN100954;REN100955;REN100957;REN100958;REN100959;REN100960;REN100961;REN100962;REN100963;REN100964;REN100965;REN100966;REN100967;REN100968;REN100969;RH118565;RH79928;stSG609438;stSG609440 EVX-1;OTTHUMP00000217285;eve, even-skipped homeo box homolog 1;eve, even-skipped homeo box homolog 1 (drosophila);eve, even-skipped homeobox homolog 1;even-skipped homeo box 1 (homolog of Drosophila);homeobox even-skipped homolog protein 1 APPROVED protein-coding 3506 00876 142996 REVIEWED 1348415 EVX2 even-skipped homeobox 2 This gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even-skipped (eve) gene, a member of the pair-rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster, which includes this gene and the HOXD9-HOXD13 genes, causes synpolydactyly, a dominantly inherited disease resulting in limb malformation. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 170553985 170557840 - 176653081 176656936 - 176944835 176948690 - 1580863;6480464 15815621;11778160;11181995;1675198;10440834;11060466;12136098;7581388;7896287;18029348;22699663 344191 Q03828 ABBA01062216;AC009336;AJ329487;AJ329526;AMYH01011292;CH471058;M59982;M59983;NG_012893;NM_001080458 AAA52414;EAX11096;NP_001073927;Q03828 Hs.452341 EVX-2 OTTHUMP00000217529;eve, even-skipped homeo box homolog 2;eve, even-skipped homeo box homolog 2 (drosophila);even-skipped homeo box 2 (homolog of Drosophila eve);homeobox even-skipped homolog protein 2 APPROVED protein-coding 3507 142991 REVIEWED 2303435 EVPLL envoplakin-like 17 17 17 p11.2 19232559 19238172 + 18221804 18233691 + 18281079 18292961 + 6480464 12477932 645027 A8MZ36 ABBA01009729;ABBA01009730;AK298286;AL353997;AMYH01008168;BC026998;BC036791;NM_001145127 A8MZ36;BAG60546;NP_001138599 Hs.462400 1644075 G33172 OTTHUMP00000065144;envoplakin-like;envoplakin-like protein protein-coding ENSG00000214860 35236 VALIDATED 1314586 EVPL envoplakin 17 17 q25 71514522 71535102 - 74002927 74023507 - 1580863;6480464 12432088;10409435;10908733;8707850;15756445;15342556;15033990;12477932;12366696;11062259;10747979;9651377;9412476;9115270;8999895;8938451;18820940;20936779;22939629;22360420;21906983 2125 K7EKI0;K7EQ87;Q92817 ABBA01028762;AC040980;AK290333;AMYH01008636;BC126103;BC126105;BC143813;BC143814;BP353801;CH471099;NM_001988;U53786;U72849 AAC64662;AAD00186;AAI26104;AAI26106;AAI43815;BAF83022;EAW89356;EAW89357;NP_001979;Q92817 Hs.500635 5014055 D1S3697 EVPK 210 kDa cornified envelope precursor protein;210 kDa paraneoplastic pemphigus antigen;envoplakin;p210 protein-coding ENSG00000167880 3503 03352 601590 VALIDATED 1350066 EVI2A ecotropic viral integration site 2A 17 17 17 q11.2 26564149 26569490 - 26668801 26672843 - 29643428 29648767 - 1580863;6480464 2117566;17632510;15489334;12477932;2134734;2117565;16344560;1639383;1719426;1899288;1903357;2114220;8889548;21832049;21988832 2123 P22794 ABBA01014963;AC004526;AC134669;AC135724;AK295311;AK312348;AMYH01008320;AV724051;AY796305;BC035572;BG699778;BG700097;BI597493;CF135330;CH471147;DA364537;L05367;M55267;NG_009018;NM_001003927;NM_014210 AAA52413;AAH35572;ABM81735;ABM84890;BAG35269;BAG58290;EAW80276;NP_001003927;NP_055025;P22794 Hs.591198 1341251;1681101;1688644;1741257;1742767;2111938;2141429;2218770 D17S1166;D17S2163;EVI2A_3977;GDB:179892;GDB:204171;RH76220;RH98908;STS-N38894 EVDA;EVI-2A;EVI2 OTTHUMP00000214770;OTTHUMP00000214771;OTTHUMP00000214772;ecotropic viral integration site 2A protein homolog;protein EVI2A protein-coding 3499 08866 158380 VALIDATED 1349081 EXLD1 extracellular link domain containing, 1 26283 3510 1605079 EVL Enah/Vasp-like 14 14 q32.2 99601504 99680326 + 100531751 100610573 + 6480464 10993894;19329439;18357390;18264139;17998398;16806233;16376568;16336193;15939738;15656790;15489334;15469846;15469845;15302935;14702039;14506234;12477932;12029088;10945997;10931946;10747096;9268706;9110174;8619474;17207965;20639531;10892742;16055720;19725871;20379614;16341674;21398369;22145905;21044950;22190034 51466 B7Z3I5;G3V2K5;G3V314;G3V3G2;G3V535;G3V5F7;H0YJL6;H0YJN0;Q9UI08 ABBA01048540;ABBA01048541;AF052504;AF087843;AF112209;AF131766;AK092467;AK289720;AK295919;AK301379;AL133523;AL133642;AL157912;AMYH01006003;BC023997;BC032358;BC049376;BQ083568;CH471061;NM_016337 AAD20040;AAF17197;AAF21709;AAH23997;AAH32358;AAH49376;AAP97156;ABM84269;ADQ31798;BAF82409;BAG62920;BAH12221;CAB63763;EAW81684;EAW81685;EAW81686;EAW81687;NP_057421;Q9UI08 Hs.125867 1684962;1767319;1770873;1773035;2139862;2139886;2164102;2164830;2171394;5020948 A002P22;D2S2679;G06249;G35408;G35471;G35510;G35521;G35781;G36109;RH93710 RNB6 OTTHUMP00000246339;OTTHUMP00000246340;OTTHUMP00000246341;ena/VASP-like protein;ena/vasodilator-stimulated phosphoprotein-like protein-coding ENSG00000196405 20234 10942 VALIDATED 1347720 EVI5L ecotropic viral integration site 5-like 19 19 19 p13.2 7766398 7801160 + 7801243 7835862 + 7895161 7929862 + 6480464 19077034;16923123;16189514;15489334;14702039;12477932;19060904;20205591;21163940;23669355 115704 M0QYX4;M0R1Y1;Q96CN4 AB449874;ABBA01010881;ABBA01010882;ABBA01010883;AC008812;AC010336;AK091609;AMYH01009413;BC014111;BI755965;BI913004;CH471139;NM_001159944;NM_145245 AAH14111;BAH16617;EAW68973;EAW68974;EAW68975;NP_001153416;NP_660288;Q96CN4 Hs.26870 1667757;1739931;5015961;5022588 D15S1477;D19S848;D5S1597E;RH35995 EVI5-like protein;ecotropic viral integration site 5-like protein protein-coding ENSG00000142459 30464 10044 VALIDATED 1605271 EXD1 exonuclease 3'-5' domain containing 1 15 15 15 q15.1 18242813 18290873 - 39262218 39310187 - 41474926 41522895 - 6480464 12477932;20379614;20639865 161829 B7Z839;H0YK66;Q8NHP7 ABBA01038419;ABBA01038420;ABBA01038421;ABBA01038422;ABBA01038423;AC012652;AC022408;AK123414;AK292524;AK302864;AMYH01006568;BC030628;CH471125;HC007148;NM_152596 AAH30628;ABM83411;ABM86622;BAC85610;BAF85213;BAH13825;CBH19379;EAW92473;NP_689809;Q8NHP7 Hs.307999 1697954;5015861;5015879;5020740;5022588;5037552;7185938 D10S16;D5S1597E;D8S2279;GDB:314949;L17809;RH102506 EXDL1;MGC33637 OTTHUMP00000160721;exonuclease 3'-5' domain-containing protein 1;exonuclease 3'-5' domain-like 1;exonuclease 3'-5' domain-like-containing protein 1 protein-coding ENSG00000178997 28507 14571 PROVISIONAL 1606281 EXD3 exonuclease 3'-5' domain containing 3 9 9 9 q34.3 110717558 110832531 - 139321169 139437535 - 140201348 140317714 - 6480464 16344560;16189514;14702039;12477932;21145461;19060904 54932 E9PI94;E9PN82;E9PSB6;H0YD51;Q8N9H8;Q9NX53 AB061798;ABBA01022757;ABBA01022758;ABBA01022759;ABBA01022760;ABBA01022761;ABBA01022762;ABBA01022763;ABBA01022764;ABBA01022765;ABBA01022766;ABBA01022767;AK000440;AK055004;AK091390;AK094438;AL536907;AMYH01021899;AMYH01021900;AMYH01021901;AMYH01021902;AMYH01021903;AMYH01021904;AMYH01021905;BC033079;BC037355;BC039252;BC065002;BC069205;BC110879;BC131749;BU947354;BX322799;CH471090;DA071548;DA328221;NM_017820 AAH37355;AAH39252;AAH65002;AAI10880;BAA91167;BAB70838;BAC04356;BAC10986;EAW88381;EAW88382;EAW88383;EAW88384;NP_060290;Q8N9H8;Q9NX53 Hs.495553 1659790;1757871;2153485;5037552 D8S2279;RH47760;RH47864;SHGC-146746 FLJ20433;FLJ30442;MGC131904;MGC74981;mut-7 OTTHUMP00000209270;exonuclease 3'-5' domain-containing protein 3;probable exonuclease mut-7 homolog;probable exonuclease mut-7 homolog, isoform 5 protein-coding ENSG00000187609 26023 07906 VALIDATED 1601975 EXO5 exonuclease 5 1 1 1 p34.2 39256825 39264621 + 40747020 40754815 + 40974433 40982228 + 6480464 15302935;14702039;12477932;17207965;21139048;23095756 64789 Q9H790 ABBA01023172;AF086542;AK021507;AK023245;AK024797;AK094092;AL603839;AMYH01000537;BC021969;CH471059;NM_022774 AAH21969;ADQ32624;BAB15008;EAX07210;EAX07211;EAX07212;EAX07213;EAX07214;NP_073611;Q9H790 Hs.59584 1697054;2122475;5015619;5022578 D11S3114;D1S1423;RH102006;SHGC-58419 C1orf176;DEM1;Exo V;FLJ11445;FLJ13183;FLJ21144;hExo5 OTTHUMP00000008383;OTTHUMP00000008384;OTTHUMP00000008385;OTTHUMP00000008386;OTTHUMP00000008387;OTTHUMP00000008388;OTTHUMP00000008389;OTTHUMP00000008390;OTTHUMP00000008391;defects in morphology 1 homolog;defects in morphology protein 1 homolog;exonuclease 5;exonuclease V;probable exonuclease V APPROVED protein-coding ENSG00000164002 26115 07955 PROVISIONAL 1344149 EXOC3 exocyst complex component 3 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008] 5 5 5 p15.33 541456 565545 + 496334 520411 + 443334 467411 + 737633;1580863;6480464;6484113 12477932 15489334;15037366;14525976;12954101;12693554;12687004;11865051;11406615;9655500;9405631;9110174;8982167;8619474;12738960;20736409;21297633;21832049;22939629;22381337;18329369;20360068;22172676;22534017 11336 D6RB59;D6RBR9;H0Y995;O60645;Q69YP2 AA487875;ABBA01034257;AC010442;AF055006;AI628051;AK074086;AK131103;AK315749;AL545132;AL589499;AL832434;AMYH01014826;BC001511;BC019304;BC034427;BC064569;CH471235;GU727644;NM_007277 AAC09358;AAH01511;AAH19304;AAH64569;ADU87645;BAB84912;BAC85153;BAG38103;CAH10613;EAW51000;EAW51001;EAW51002;EAW51003;NP_009208;O60645 Hs.481464 1658214;1740403;1761977;2126305;2145274;2145276;2163374 D5S2220E;HSCZPD012;RH15992;RH41870;SHGC-145906;SHGC-54627;WI-16020 SEC6;SEC6L1;Sec6p OTTHUMP00000221555;SEC6-like 1;Sec 6 homolog;exocyst complex component 3;exocyst complex component Sec6;sec6-like 1 (s. cerevisiae) APPROVED protein-coding ENSG00000180104 30378 09738 608186 REVIEWED 1322357 EXD2 exonuclease 3'-5' domain containing 2 14 14 14 q24.1 49722349 49774877 + 68746231 68778825 + 69658194 69710737 + 6480464 18029348;15489334;14702039;12477932;16344560;21139048;21890473 55218 A8K948;C9JLF4;Q86TX3;Q9NVH0 ABBA01023678;ABBA01023679;ABBA01023680;AK001600;AK056025;AK292563;AK295601;AL359317;AL834434;AMYH01005824;AMYH01005825;AU143711;BC001962;BX161412;BX647767;CH471061;CR936728;CR936729;DB087350;DC369956;NM_001193360;NM_001193361;NM_001193362;NM_001193363;NM_018199;NR_034164;NR_034165 AAH01962;ACE86606;ACE87287;BAA91781;BAF85252;BAG51607;BAG58488;CAD39094;CAD61888;CAH10568;EAW80984;EAW80985;NP_001180289;NP_001180290;NP_001180291;NP_001180292;NP_060669;Q9NVH0 Hs.533878 1651772;1675019;1693804;1719743;1736440;1771871;1773057;2123078;2140443 D14S703E;RH11336;RH123562;RH44770;SGC32419;SHGC-58944;STS-R38777;WI-20713;WI-22250 C14orf114;DKFZp781A0133;DKFZp781L15100;EXDL2;FLJ10738 OTTHUMP00000205813;OTTHUMP00000205814;OTTHUMP00000205816;OTTHUMP00000205817;OTTHUMP00000205818;chromosome 14 open reading frame 114;exonuclease 3'-5' domain-containing protein 2;exonuclease 3'-5' domain-like 2;exonuclease 3'-5' domain-like-containing protein 2 protein-coding 20217 16592 VALIDATED 1312667 EXOC1 exocyst complex component 1 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 4 4 4 q12 54226215 54277630 + 56414573 56466001 + 56719816 56771244 + 6480464;6484113 19889084;11406615;18541705;15489334;15037366;14702039;14525976;12687004;12665801;12477932;11493706;11042152;9655500;9405631;19889837;17043677;21139048;21906983;22534017;22797925 55763 Q9NV70 ABBA01003418;AC110611;AF208854;AK001755;AK023461;AK027047;AK027413;AL833208;AMYH01014194;AW589689;BC019237;BC020650;BC094751;BI760313;BM468054;CH471057;NM_001024924;NM_018261;NM_178237 AAF64268;AAH19237;AAH20650;AAH94751;BAA91886;BAB55095;EAX05473;EAX05474;EAX05475;EAX05476;NP_001020095;NP_060731;NP_839955;Q9NV70 Hs.269665 1648049;1654575;1760377;1774491;1796734;5124229 RH98748;SEC3_1440;SHGC-142121;SHGC-67788;SHGC-67947;WI-22710 BM-102;FLJ10893;SEC3;SEC3L1;SEC3P OTTHUMP00000128358;OTTHUMP00000159214;OTTHUMP00000218759;SEC3-like 1;exocyst complex component 1;exocyst complex component Sec3 APPROVED protein-coding ENSG00000090989 30380 07615 607879 REVIEWED 1316345 EWSR1 EWS RNA-binding protein 1 This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009] 22 22 q12.2 27994017 28026515 + 29663998 29696515 + 1598915;1580863;6480464;7240710 1522903 8084618;19417137;19305498;19289832;19247449;19212622;19189974;19170206;19144156;19133275;19074838;18974141;18838963;18648544;18620564;18587326;18580682;18453593;18414662;18413612;18383210;18271016;18223324;18212050;17724745;17647282;17638877;17163154;17114343;16965792;16713569;16344560;16327442;16189514;15919668;15917470;15884099;15782174;15635413;15489334;15461802;15324660;15282325;15231748;15044653;15021903;14702039;14534527;12915128;12527906;12527902;12477932;12459554;12432261;12359745;12183411;12049818;11992546;11960373;11422378;11278906;10949935;10838070;10827180;10767297;10322114;9704926;9660765;9488465;9341188;9201297;8975699;8954779;8921363;8889548;8604338;8570200;8552387;8522311;8401579;8307570;8125298;7542907;1127890;934118;9010223;17353931;20660338;21411698;21212061;17220478;18320585;18347058;19404404;19492315;19559696;19561568;19673543;19718047;19775727;19837262;19859563;19879242;20019092;20051954;20103643;20308669;20308673;20382729;20442286;20203285;20211855;20691659;16055720;16740692;20815032;20211142;20933505;22570737;22939629;21113140;21816343;21145461;19928837;21856723;21182205;22454397;21344536;21484932;21555518;16335966;21962892;22910415;21979944;21643012;21997693;21267687;21853155;19542561;22038502;22446626;22569967;22586326;21987447;22145905;23145994;23399793;23455922;23455924;23463506;23552423;22086061;20665663;21139048;21725291;21890473;21906983;21956701;21987572;18632687;19322201;20972445;22510762;18239623;21793187;22153153;22266186;23426124;17725712;19738201;21988832;22623428;22751105;23000965;23049996;23588368;23588370;22053931;22174317;22925827;22930730 2130 B0QYJ3;B0QYJ4;B0QYJ5;B0QYJ6;B0QYJ7;B0QYK0;C9JGE3;F8WC90;H7BY36;Q01844 AB016435;ABBA01055260;ABBA01055261;AC000026;AC002059;AI564543;AK026270;AK056309;AK056681;AK096787;AK127624;AK225096;AK225102;AL031186;AL833489;AMYH01012695;AW205707;BC000527;BC004817;BC011048;BC072442;BE741903;BM981230;BX648769;CH471095;CQ867364;CR456490;CX786322;DA013931;DA051447;DB051511;DB443651;EU327511;NG_023240;NM_001163285;NM_001163286;NM_001163287;NM_005243;NM_013986;X66899;X72990;X98745;Y07848;Y08806 AAH00527;AAH04817;AAH11048;AAH72442;ABY40719;BAA31990;BAB71145;BAB71252;CAA47350;CAA51489;CAA69177;CAA70044;CAG30376;CAH33891;CAK54518;CAK54817;EAW59780;EAW59781;EAW59782;EAW59783;EAW59784;EAW59785;EAW59786;EAW59787;NP_001156757;NP_001156758;NP_001156759;NP_005234;NP_053733;Q01844 Hs.374477 1649280;1768666;2131342;2177499;5117236 G06555;GDB:452619;SGC38366;SHGC-37092;STS-N54946 EWS;bK984G1.4 EWS oncogene;Ewing sarcoma breakpoint region 1;Ewings sarcoma EWS-Fli1 (type 1) oncogene;OTTHUMP00000199146;OTTHUMP00000199147;OTTHUMP00000199148;OTTHUMP00000199149;OTTHUMP00000199150;OTTHUMP00000199152;OTTHUMP00000199156;OTTHUMP00000217043;RNA-binding protein EWS;ewing sarcoma breakpoint region 1 protein APPROVED protein-coding ENSG00000182944 3508 00592 133450;612219 REVIEWED 1319820 EXO1 exonuclease 1 This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008] 1 1 q42-q43 240078158 240119671 + 242011493 242053241 + 2306716;4892268;6480464;6907045 18157157;21321022 17656264;22146767;22205538;11842105;10608837;2414623;9788596;10856833;11427529;11429708;12414623;14676842;15225546;15886194;10364235;14636568;11809771;9685493;19515603;19331228;19074885;19064572;19015241;19012493;18971343;18940926;18676680;18559551;18270339;18205772;18079015;18048416;17855454;17426132;16710414;16195237;16143102;15550454;15489334;15328369;15302935;14756672;14623461;12704184;12517792;12477932;11375940;9823303;8889548;21533173;22296401;22326273;20643645;15146197;16344560;17148452;19170196;19625176;19626040;19692168;19698732;19846925;20019063;20126648;20337148;20379614;20453000;20854105;20429728;20447876;21325134;21052091;21496642;21808022;22222486;21693764;21890473;21906983;21963094;22179609;21862834;22267201;22230721;22987153 9156 E5RGY3;E5RHK1;H0YAZ2;Q5T397;Q5T398;Q5T399;Q9UQ84 ABBA01033259;AC004783;AF042282;AF060479;AF084974;AF091740;AF091742;AF091754;AF549168;AK291291;AL080139;AL365366;AMYH01001875;BC007491;BM465399;BM983504;CA430743;CD644038;CH471098;CN348533;DA661516;NG_029100;NM_003686;NM_006027;NM_130398 AAC32259;AAC32424;AAC33874;AAC63043;AAC69879;AAC69880;AAD13754;AAH07491;AAN39382;ABM83958;ABW03555;BAF83980;CAB45733;EAW70103;EAW70104;EAW70105;EAW70106;NP_003677;NP_006018;NP_569082;Q9UQ84 Hs.498248 2118244 AL010043 HEX1;hExoI OTTHUMP00000037878;OTTHUMP00000037879;exonuclease 1;exonuclease I;hExo1;rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 APPROVED protein-coding ENSG00000174371 3511 06932 606063 REVIEWED 6482176 EXOC5P1 exocyst complex component 5 pseudogene 1 4 q13.1 63682544 63684509 + 644548 ABBA01022846;AC108048;AMYH01014225;NG_022058 1735368;2153493 D4S2339;D4S2497E pseudo 43870 INFERRED 1605832 EXOC3L1 exocyst complex component 3-like 1 16 16 16 q22.1 51726514 51732339 - 65775783 65781608 - 67218282 67224107 - 6480464 16344560;14702039;12477932;18480549;21347282 283849 F5H4W1;H3BPA4;H3BRW6;H3BTH9;Q86VI1 ABBA01025432;AC040160;AC074143;AI796350;AK092858;AK092906;AK292004;AK300915;AMYH01007745;BC034287;CH471092;DA945486;NM_178516 AAI67852;BAC03991;BAC04000;BAF84693;BAH13376;EAW83092;EAW83093;NP_848611;Q86VI1 Hs.647356 EXOC3L;FLJ35539;FLJ35587;MGC88052 OTTHUMP00000174802;exocyst complex component 3-like protein;protein Jiangli APPROVED protein-coding ENSG00000179044 27540 14148 614117 VALIDATED 1605316 EXOC3L2 exocyst complex component 3-like 2 19 19 19 q13.32 42521452 42543042 - 50407719 50429309 - 45715879 45737469 - 6480464 14702039;12477932;8889549;8125298;22381399;19197348;20460622;21566143;22139419 90332 Q2M3D2 AA069926;ABBA01040914;ABBA01040915;AC006126;AF490256;AK093466;AK225791;AMYH01009850;BC104947;BC104949;CH471126;NM_138568 AAI04948;AAI04950;AAO85464;BAC04175;EAW57331;NP_612635;Q2M3D2 Hs.337557 1698020;2107777;5016781 RH102539;SHGC-67307;XTP7__4915 FLJ36147;MGC16332;XTP7 HBV X-transactivated gene 7 protein;HBV XAg-transactivated protein 7;OTTHUMP00000207128;exocyst complex component 3-like protein 2;protein 7 transactivated by hepatitis B virus X antigen (HBxAg) protein-coding ENSG00000130201 30162 10311 VALIDATED 1348584 EXOC2 exocyst complex component 2 The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 6 6 p25.3 430138 638109 - 485138 693141 - 1580863;6480464;6484113 16344560;12459492;18697830;18483556;17952075;17018283;15489334;15302935;15037366;14702039;14574404;14525976;12839989;12687004;12624092;12575951;12477932;11744922;11493706;9655500;9405631;15920473;21700618;20570966;20616560;14980502;19166349;19340012;20145037;20379614;21197618;22939629;23548203;21139048;21890473;21906983;21963094;21988832;23064961;22885689;20685960;22505724;22534017;22797925;23470693;22761837 55770 B2RBE6;G8JLK9;Q2MDF5;Q96KP1 ABBA01048665;ABBA01048666;AJ414403;AJ420556;AK001888;AK056564;AK302941;AK314628;AL031770;AL357054;AL512308;AL833209;AL833213;AMYH01016012;AMYH01016013;BC016918;BC080542;CH471087;DA228027;NM_018303;NR_073064 AAH16918;AAH80542;BAA91963;BAG37193;BAG51749;BAG64099;CAC92092;CAI46189;EAW55061;EAW55062;NP_060773;Q96KP1 Hs.484412 1648510;1649974;1694966;1773261;1798136;1858255;2122260;2124621;2129324;2158798;5021916 AL035370;D6S962;RH37466;RH45976;RH68454;RH68754;SEC5_1861;SHGC-35174;SHGC-64315;STS-AA019205;ha3001 FLJ11026;SEC5;SEC5L1;Sec5p OTTHUMP00000164193;SEC5-like 1;exocyst complex component 2;exocyst complex component Sec5 APPROVED protein-coding ENSG00000112685 24968 11544 615329 REVIEWED 6482174 EXOC7P1 exocyst complex component 7 pseudogene 1 4 q25 109338864 109340919 - 391681 ABBA01063760;AC005510;AMYH01014454;NG_022023 pseudo 43871 INFERRED 1349636 EXOC3L4 exocyst complex component 3-like 4 14 14 14 q32.32 83620482 83630896 + 102636234 102646649 + 103566481 103576896 + 6480464 15489334;12477932;22001757;22010049;22139419 91828 H0YNJ4;H0YNV0;H0YNV7;Q17RC7 ABBA01048436;ABBA01048437;AK000671;AL161669;AMYH01006042;BC113655;BC117375;BX279908;NM_001077594 AAI13656;AAI17376;ADR83343;NP_001071062;Q17RC7 Hs.37712 1646588;1657770;1694864;5093766 A009W17;G32911;G44306;RH78715 C14orf73 SEC6-like protein C14orf73;exocyst complex component 3-like protein 4 APPROVED protein-coding ENSG00000205436 20120 VALIDATED 1353036 EXOC4 exocyst complex component 4 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 q31 132588363 133401054 + 132937823 133750514 + 1580863;6480464;6484113 17903302;16964243;16381901;15880602;15489336;15037366;14702039;14525976;12738960;12690205;12687004;12675619;12544826;12477932;11865051;11406615;11230166;11214970;11076863;9655500;9630218;9405631;17353931;18329369;11256614;18987618;18541705;18498660;17643375;18480549;19889837;23535033;22939629;21565611;23000965;23207790;17043677;20360068;21139048;21890473;22172676;22190034;22505724;22534017;22797925 60412 B7Z321;B7Z4J9;F5GZT1;Q6NX51;Q96A65 AACC02000027;AB051486;ABBA01001100;ABBA01001101;ABBA01001102;ABBA01001103;ABBA01001104;ABBA01001105;AC007790;AC009178;AC009180;AC009358;AC024086;AC083872;AC083875;AC093147;AF132734;AF380839;AK022751;AK027688;AK095495;AK295404;AK297458;AK298191;AK299927;AL831989;AL834475;AMYH01017949;AMYH01017950;AMYH01017951;AMYH01017952;AW451395;BC020607;BC026174;BC067263;BE244117;BE246205;CH236950;CH471070;NM_001037126;NM_021807 AAF66445;AAH20607;AAH26174;AAH67263;AAK57456;BAB14225;BAB21790;BAB55298;BAG53069;BAH12057;BAH12585;BAH12738;BAH13175;CAD39134;CAD89977;CAL38306;EAL24073;EAW83804;EAW83805;EAW83806;NP_001032203;NP_068579;Q96A65 Hs.321273 1338565;1340732;1341758;1646220;1651957;1660830;1667374;1683862;1693796;1708190;1718201;1723401;1748751;1765171;1768449;1848488;1848490;1852202;2122694;2127980;2135650;2137503;2144107;2148926;2152930;2158358;2160662;2161783;2162587;2163368;2163499;2163524;2163774;2172716;2177139;2182206;2182741;5015861;7184948;7185232;7185938;7186475;7187596 A006F06;AFMa099we5;D10S16;D7S1614;D7S2029;D7S2215;D7S2437;D7S2452;D7S2902;D7S681;G20755;G31563;GDB:1234272;GDB:1317262;GDB:1317538;GDB:1317552;GDB:1317574;GDB:1317578;GDB:1317888;GDB:1317890;GDB:1318734;GDB:4585409;RH118512;RH12110;RH122870;RH45693;RH68070;RH68833;SGC44689;SHGC-110384;SHGC-148683;SHGC-53302;SHGC-58935;SHGC-79348;WI-12426;WI-12642;WI-14795;WI-17694 MGC27170;REC8;SEC8;SEC8L1;Sec8p OTTHUMP00000207625;OTTHUMP00000207648;SEC8-like 1;exocyst complex component 4;exocyst complex component Sec8;sec8-like 1 (s. cerevisiae) APPROVED protein-coding ENSG00000131558 30389 12185 608185 REVIEWED 7174866 EXOGP1 endo/exonuclease (5'-3'), endonuclease G-like pseudogene 1 18 q11.1 18760813 18763394 - 100128324 ABBA01022697;AC022809;AMYH01008876;NG_009889 pseudo 44547 INFERRED 1349809 EXOC6B exocyst complex component 6B In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM, Apr 2004] 2 2 2 p13.2 72256455 72902975 - 72259952 72906685 - 72406444 73053177 - 1580863;6480464 18424204;14702039;12477932;11406615;10231032;9847074;21139048;21906983;22433857 23233 F8W6R7;J3QT38;Q9H8D6;Q9Y2D4 AB023136;ABBA01075563;ABBA01075564;ABBA01075565;ABBA01075566;ABBA01075567;ABBA01075568;ABBA01075569;ABBA01075570;ABBA01075571;ABBA01075572;ABBA01075573;AC006461;AC016770;AC092630;AC104309;AC105051;AK023791;AK026474;AMYH01010434;AMYH01010435;BC029921;BX951761;DR001300;NM_015189 AAI60001;BAA76763;BAB14681;NP_056004;Q9Y2D4 Hs.303454 1335170;1703276;1706344;1713645;1723399;1751965;1851207;1924716;2119511;2125696;2132997;2141713;2151703;2169802;2181191;2184258;5092740 A005W10;A006T25;A007H43;D2S1374;G10603;G32299;REN33183;RH118511;RH120704;RH45171;RH45931;RH69469;SHGC-105979;SHGC-34188;SHGC-68261;SHGC-80738;WI-14051 KIAA0919;SEC15B;SEC15L2 OTTHUMP00000202267;OTTHUMP00000202269;SEC15 homolog B;SEC15-like 2;SEC15-like protein 2;WUGSC:H_NH0343N14.1;exocyst complex component 6B;exocyst complex component Sec15B APPROVED protein-coding 17085 607880 VALIDATED 731494 EXOC5 exocyst complex component 5 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008] 14 14 q22.3 56738947 56805370 - 57669194 57735617 - 1580863;6480464;6484113 9119050;16713569;15880602;15146197;15037366;14662749;14525976;12687004;12477932;11865051;11406615;9655500;9405631;8889548;16712791;19297529;20053792;22939629;21139048;22505724;22797925 10640 F8W9B8;G3V377;G3V4Z7;O00471;Q8IW24 AA837306;ABBA01018237;AF118083;AK025802;AK295085;AK303531;AK312523;AL118623;AL139195;AL391152;AL833745;AMYH01005752;BC006976;BC020643;BC031298;BC041126;BI460915;BI461191;BM723045;CB145811;CH471061;CN268669;NM_006544;U85946 AAB53388;AAF22027;AAH41126;BAG35422;BAG58126;BAG64559;CAH56255;EAW80697;EAW80698;EAW80699;NP_006535;O00471 Hs.743987 1649655;1661596;1689867;1735368;2110725;2138894;2149182;2149818;2182697 D4S2497E;RH17456;RH44844;RH45179;RH69869;SEC10L1__6912;SGC34266;SHGC-32913;SHGC-59490 DKFZp666H126;HSEC10;PRO1912;SEC10;SEC10L1;SEC10P OTTHUMP00000245785;OTTHUMP00000245786;SEC10-like 1;component of rsec6/8 secretory complex p71 (71 kda);exocyst complex component 5;exocyst complex component Sec10 APPROVED protein-coding ENSG00000070367 10696 07258 604469 REVIEWED 1347556 EXOC7 exocyst complex component 7 The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011] 17 17 q25.1 71588682 71611451 - 74077086 74099868 - 737633;1580863;6480464;6484113;6907045 12477932 18000879;17086175;16964243;16344560;15705715;15489334;15205466;14702039;11054383;10610771;10608757;10470851;16169070;12738960;12687004;16189514;14525976;11406615;16148947;22939629;21034848;21639856;17043677;21139048;21890473;21906983;22049025;22595671;23000965;23300727 23265 B4DJ07;B5MCY9;C9JKC2;C9JME6;K7ENP8;K7ERQ5;Q63HP7;Q9HA32 AB028990;ABBA01028758;ABBA01028759;AC018665;AF067415;AI653861;AK000718;AK022397;AK022552;AK023832;AK024769;AK098284;AK128278;AK295871;AL162005;AL834324;AMYH01008639;AY869728;BC011045;BC015165;BC018466;BC029432;BX647763;BX648435;CB989148;CH471099;DA224278;DC319923;FJ457119;FJ457120;NG_030672;NM_001013839;NM_001145297;NM_001145298;NM_001145299;NM_015219;NR_028133 AAC25180;AAH11045;AAH15165;AAH18466;AAW65095;ACK36853;ACK36854;BAA83019;BAB14026;BAB14095;BAB14694;BAG58669;CAD38992;CAH56185;EAW89367;EAW89368;EAW89369;EAW89370;EAW89371;EAW89372;EAW89373;EAW89374;NP_001013861;NP_001138769;NP_001138770;NP_001138771;NP_056034;Q9UPT5 Hs.514496 2108071;2143434;5015961 D15S1477;EXOC7__7609;SHGC-36023 2-5-3p;DKFZp686J04253;EX070;EXO70;EXOC1;Exo70p;FLJ40965;FLJ46415;YJL085W OTTHUMP00000198356;OTTHUMP00000198357;OTTHUMP00000198360;OTTHUMP00000198364;OTTHUMP00000198365;exocyst complex component 7;exocyst complex component Exo70 APPROVED protein-coding ENSG00000182473 23214 16292 608163 REVIEWED 1312174 EXOG endo/exonuclease (5'-3'), endonuclease G-like This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009] 3 3 3 p21.3 38473645 38503721 + 38512837 38541183 + 38537763 38567796 + 1580863;6480464 10231028;18187503;14702039;17415550;12477932;8012384;20877624;21768646;21890473 9941 F2Z2D3;F8WC11;F8WE28;F8WE38;F8WEP0;H0Y8P1;H7C0W6;H7C451;Q9Y2C4 AA993872;AB020523;ABBA01024819;AK023235;AK289602;AK290107;AK301067;AK308814;AK315814;AMYH01013093;AP006241;BC015820;BC065368;BC104212;BC104213;CH471055;NM_001145464;NM_005107;Z63425 AAI04213;AAI04214;BAA76752;BAF82291;BAF82796;BAF98705;BAG51171;BAG62674;EAW64537;EAW64538;EAW64539;NP_001138936;NP_005098;Q9Y2C4 Hs.517897 1687570;2109285;5095953 ENDOGL1_9021;RH94338;SHGC-32405 ENDOGL1;ENDOGL2;ENGL;ENGL-a;ENGL-b;ENGLA;ENGLB;MGC125944;MGC125945 OTTHUMP00000161969;OTTHUMP00000209093;OTTHUMP00000209096;OTTHUMP00000209790;OTTHUMP00000209791;endo G-like 1;endonuclease G-like 1;endonuclease G-like 2;nuclease EXOG, mitochondrial APPROVED protein-coding ENSG00000157036 3347 06813 604051 REVIEWED 1343470 EXOC8 exocyst complex component 8 1 1 1 q42.2 204733352 204738448 - 229535103 229540201 - 231468482 231473578 - 737633;1580863;6480464 12477932 16189514;16710414;15489334;14702039;14525976;12954101;12687004;11406615;9655500;9405631;19615732;20145037;18029348;22939629;22889411;21890473;21906983;19322201;19060904;22761837 149371 Q8IYI6 ABBA01033037;AK096460;AL117352;AL133716;AMYH01001819;BC035763;CA775845;CH471098;NM_175876 AAH35763;BAG53295;EAW69955;NP_787072;Q8IYI6 Hs.356198 1674936;2108073;2125251;2125253 A005B40;D1S2383;EXOC8__7610;G20249 EXO84;Exo84p;SEC84 OTTHUMP00000036150;exocyst complex 84 kDa subunit;exocyst complex 84-kDa subunit;exocyst complex component 8 protein-coding ENSG00000116903 24659 09943 615283 VALIDATED 2301482 EXOSC3P2 exosome component 3 pseudogene 2 19 19 p13.2 7748845 7750554 - 7877603 7879314 - 100190954 ABBA01010885;AC008812;AMYH01009412;NG_008711 pseudo 33990 INFERRED 2293248 EXOSC3P1 exosome component 3 pseudogene 1 21 21 21 q22.11 19052752 19053508 + 33869122 33869878 + 33869122 33869878 + 100151640 ABBA01057316;AMYH01012201;AP000271;NG_007654 1776753;1825258;1827132;1829206;1830982;2020524;2020526;2020528;2020530;2020532;2020534;2020536;2020538;2020540;2020542;2020544;2020546;2020548;2099898 ECD13730;ECD14681;ECD15730;ECD16627;REN81231;REN81232;REN81233;REN81234;REN81235;REN81236;REN81237;REN81238;REN81239;REN81240;REN81241;REN81242;REN81243;SHGC-87594;stSG606444 pseudo 33989 INFERRED 733206 EXOC6 exocyst complex component 6 The product of this gene belongs to the SEC15 family. It is highly similar to the protein encoded by Saccharomyces cerevisiae SEC15 gene. This protein is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q23.33 88335925 88560454 + 94584450 94809241 + 94594470 94819251 + 69939;1580863;6480464;6484113 8889548 16478783;16344560;15489334;15292201;15205466;14702039;12477932;20944747;21044367;16385451;20379614;21163940;22939629;21139048;21890473;21906983;22172676;22534017 54536 B1AP46;B3KXY5;E7EW84;F2Z2Q3;F2Z3K0;H0Y5J8;Q8TAG9 ABBA01021882;ABBA01021883;ABBA01021884;ABBA01021885;AF220217;AI039616;AI680957;AK002113;AK123268;AK128190;AK293857;AK300285;AK315544;AL137438;AL157705;AL358613;AL392103;AL590080;AL832501;AMYH01002954;AMYH01002955;BC028395;BC041403;BM148225;BM979273;BU674151;CB991016;CH471066;DA187840;DB060830;EF571007;NM_001013848;NM_019053 AAF37262;AAH28395;ABQ95573;ACE87850;ACT64374;BAA92088;BAG37922;BAG54647;BAG57252;BAH13251;CAB70736;EAW50082;EAW50083;EAW50084;EAW50085;EAW50086;NP_001013870;NP_061926;Q8TAG9 Hs.655657 1663629;1749231;2175918;2179591;2180314;5015621;5022578;5022651;5092882 A006W20;A009B31;D11S2921;D11S3732;D1S1423;G17454;G32389;SHGC-110915;WI-16821 DKFZp761I2124;EXOC6A;FLJ1125;FLJ11251;MGC33397;SEC15;SEC15L;SEC15L1;SEC15L3;Sec15p OTTHUMP00000020105;SEC15-like 1;SEC15-like protein 1;SEC15-like protein 3;exocyst complex component 6;exocyst complex component Sec15A APPROVED protein-coding ENSG00000138190 23196 10216 609672 REVIEWED 1352643 EXOSC1 exosome component 1 This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. [provided by RefSeq, Jul 2008] 10 10 10 q24 92903619 92943824 - 99185656 99195758 - 99195666 99205768 - 1580863;6480464 11812149;16344560;15635413;15489334;15231747;15164054;14702039;12477932;12419256;11879549;11719186;11110791;10810093;12788944;17174896;21163940;21832049;18029348;22068837;21139048;21890473;21628590;20531386;20531389;22174317;22505724;19060904 51013 B1AMU3;B1AMU4;B1AMU7;Q9Y3B2;R4GMQ7;R4GNH9 ABBA01021803;AF151866;AK091709;AK307229;AK313717;AL355490;AMYH01002977;BC012538;BC022067;CH471066;DB137484;NM_016046 AAD34103;AAH22067;ADZ15498;BAG36460;EAW49936;NP_057130;Q9Y3B2 Hs.632089 1667153;1754175;1777467;5014055;5015961;5017475;5037552 D10S2396;D15S1477;D1S3697;D8S2279;EXOSC1;SHGC-132201;WI-11032 CGI-108;CSL4;Csl4p;RP11-452K12.9;SKI4;Ski4p;hCsl4p;p13 3'-5' exoribonuclease CSL4 homolog;CSL4 exosomal core protein homolog;OTTHUMP00000020203;OTTHUMP00000020204;OTTHUMP00000020205;OTTHUMP00000020206;exosomal core protein CSL4;exosome complex component CSL4;homolog of yeast exosomal core protein CSL4 APPROVED protein-coding 17286 16223 606493 VALIDATED 1315266 EXOSC2 exosome component 2 9 9 q34 132558998 132570077 + 133569158 133580452 + 633241;1580863;6480464 1538749 8600032;15231747;17545563;15635413;15489334;15302935;15175153;14702039;14527413;12477932;12419256;11879549;11812149;11719186;11110791;10465791;9390555;8453102;7665185;6319012;6316147;6302194;6281890;3313010;3023859;3021337;2989703;2678002;2193202;2163052;1868241;21145461;16712791;21628590;12788944;17643375;17174896;22939629;16196087;21987572;21139048;21906983;21907836;22863883;22990118;20531386;20531389;22505724;22797925 23404 A3KFL1;A3KFL2;A3KFL4;A3KFL5;B4DKK6;Q13868 ABBA01012059;AK001916;AK022460;AK090512;AK092727;AK296605;AK303163;AL359092;AMYH01021772;BC000747;BC128445;CB112633;CH471090;NM_014285;U07561 AAB60392;AAH00747;AAI28446;ABM83679;ABW03545;BAA91977;BAB14043;BAG52174;BAG59218;BAG64263;EAW87941;EAW87942;EAW87943;EAW87944;NP_055100;Q13868 Hs.654643 1659423;1686686;5015404;5015961;5022200;5022450;5037552;5118576 D10S275;D11S3430;D15S1477;D8S2279;L17705;L18426;RH26892;WI-11508 RRP4;Rrp4p;hRrp4p;p7 OTTHUMP00000022370;OTTHUMP00000022371;OTTHUMP00000022372;OTTHUMP00000022373;OTTHUMP00000022374;exosome complex component RRP4;exosome complex exonuclease RRP4;homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4);homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease;ribosomal RNA-processing protein 4 protein-coding ENSG00000130713 17097 03758 602238 VALIDATED 1312357 EXOSC3 exosome component 3 This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012] 9 9 9 p11 37713503 37718262 - 37770308 37775067 - 37779711 37785089 - 1580863;6480464 11110791;15231747;15489334;15175153;12477932;12419256;11879549;11812149;11790298;11719186;10810093;10465791;12788944;11782436;17174896;17545563;19056938;21832049;22939629;21907836;23000965;21255825;21963094;15342556;16344560;21139048;21890473;21906983;20531386;20531389 51010 Q9NQT5;Q9NYS3 ABBA01050388;AF151860;AF229833;AF281132;AI886209;AK289571;AK290864;AL138752;AMYH01019361;BC002437;BC008880;BE048144;BP237222;CA414231;CF994051;CH471071;DA352003;NG_032780;NM_001002269;NM_016042 AAD34097;AAF42918;AAF82133;AAH02437;AAH08880;ABM82864;ABM86051;BAF82260;BAF83553;EAW58264;NP_001002269;NP_057126;Q9NQT5 Hs.602571;Hs.713483 1674689;5016950;5022651 D11S2921;D19S1122;RH71167 CGI-102;MGC15120;MGC723;PCH1B;RP11-3J10.8;RRP40;Rrp40p;bA3J10.7;hRrp-40;hRrp40p;p10 OTTHUMP00000021392;OTTHUMP00000215531;OTTHUMP00000215532;exosome complex component RRP40;exosome complex exonuclease RRP40;exosome component Rrp40;ribosomal RNA-processing protein 40 APPROVED protein-coding ENSG00000107371 17944 16220 606489;614678 REVIEWED 1322197 EXOSC4 exosome component 4 8 8 8 q24.3 141471120 141473149 + 145205510 145207539 + 145133522 145135551 + 1580863;6480464 11110791;15231747;17545563;16341674;15635413;15489334;14702039;14527413;12477932;12419256;11879549;11812149;11790298;11719186;10465791;12788944;18172165;16912217;17174896;22939629;22863883;21139048;21628590;20531386;20531389 54512 E9PI41;E9PPI9;Q9NPD3 ABBA01005225;AC109322;AF281133;AK000598;AMYH01019126;BC002777;BM839994;CH471162;NM_019037 AAF82134;AAH02777;ADZ15834;BAA91279;EAW82166;NP_061910;Q9NPD3 Hs.632041 1683605 RH41937 FLJ20591;RRP41;RRP41A;Rrp41p;SKI6;Ski6p;hRrp41p;p12A OTTHUMP00000229753;OTTHUMP00000229754;exosome complex component RRP41;exosome complex exonuclease RRP41;exosome component Rrp41;ribosomal RNA-processing protein 41 protein-coding ENSG00000178896 18189 16221 606491 VALIDATED 1320385 EXOSC6 exosome component 6 This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55242340 55244039 + 68841635 68843334 - 70284134 70285833 - 6480464 18289715;15231747;14702039;12477932;12419256;11967169;11812149;11719186;11110791;12788944;17174896;22939629;21139048;21906983;21907836;19322201;21628590;21145461;20531386;20531389 118460 Q5RKV6 ABBA01010673;AC009060;AK024276;AK095542;AMYH01007784;BC052252;CH471241;NM_058219 AAH52252;EAW51841;NP_478126;Q5RKV6 Hs.660633;Hs.744085 1777544;2132308;2218170;5020229;5020948;5020985;5024039;5037552;5109281;5113621 A002L29;AARS__4231;D16S2972;D16S325;D1S1425;D8S2279;G35510;L17770;REU1902;RH15631 EAP4;MTR3;Mtr3p;hMtr3p;p11 Mtr3 (mRNA transport regulator 3)-homolog;OTTHUMP00000174902;exosome complex component MTR3;exosome complex exonuclease MTR3;hMtr3;homolog of yeast mRNA transport regulator 3;mRNA transport regulator 3 homolog APPROVED protein-coding ENSG00000223496 19055 12107 606490 REVIEWED 1349336 EXOSC10 exosome component 10 1 1 p36.22 11049262 11082525 - 11126675 11159938 - 1580863;6480464 15231747;1383382;17545563;15489334;14872500;14702039;14527413;12788944;12477932;12429849;12419256;11879549;11812149;11719186;11426320;11110791;10465791;1644924;21145461;18172165;19103309;19220911;18029348;17412707;16455498;17174896;19056938;19394292;21182205;22939629;21705430;21252943;21139048;21693764;21906983;21987572;19471022;21907836;22261302;22586326;21628590;22980978;20531386;20531389;22797925 5394 B4DKG8;K7EJ37;Q01780;Q96G78 AB209236;ABBA01003039;ABBA01003040;ABBA01003041;AJ300188;AK093955;AK123365;AK294058;AK296559;AK308778;AL109811;AMYH01000252;BC008460;BC009908;BC028687;BC039901;BC073788;CH471130;FB775526;FB775528;L01457;NM_001001998;NM_002685;X66113 AAB59352;AAH09908;AAH39901;AAH73788;ACE87037;ACE87721;BAD92473;BAG57405;BAG59180;CAA46904;CAC15569;CAV30720;CAV30721;EAW71677;EAW71678;EAW71679;NP_001001998;NP_002676;Q01780 Hs.632368 1733020;1774278;2168355;2179616;5020820 D1S1383;RH44136;RH71349;RH78022;SHGC-32065 PM-Scl;PM/Scl-100;PMSCL;PMSCL2;RRP6;Rrp6p;p2;p3;p4 OTTHUMP00000002176;OTTHUMP00000002177;P100 polymyositis-scleroderma overlap syndrome-associated autoantigen;autoantigen PM-SCL;autoantigen PM/Scl 2;exosome component 10;polymyositis/scleroderma autoantigen 100 kDa;polymyositis/scleroderma autoantigen 2 (100kD);polymyositis/scleroderma autoantigen 2, 100kDa protein-coding ENSG00000171824 9138 16180 605960 VALIDATED 1353323 EXT3 exostoses (multiple) 3 7240710 8081357 2133 3514 1317301 EXOSC5 exosome component 5 19 19 q13.1 46584115 46595096 - 41892275 41903256 - 1580863;6480464 15635413;11110791;11812149;18157497;17081983;16815301;16189514;15489334;15231747;12477932;12419256;12359762;11879549;11719186;10465791;8889548;21145461;12788944;17643375;20660080;11782436;17174896;22939629;21139048;21890473;21628590;19460752;20531386;20531389;22174317;22505724;17185417 56915 M0R050;M0R102;M0R289;Q9NQT4 ABBA01040806;ABBA01040807;AC011462;AF281134;AF285785;AK314941;AMYH01009819;BC007742;BC107696;BU683254;CH471126;NM_020158 AAF82135;AAH07742;AAI07697;AAM75154;ADZ15693;BAG37447;EAW57038;NP_064543;Q9NQT4 Hs.283741 5109567 D19S625E MGC111224;MGC12901;RRP41B;RRP46;Rrp46p;hRrp46p;p12B chronic myelogenous leukemia tumor antigen 28;exosome complex component RRP46;exosome complex exonuclease RRP46;exosome component Rrp46;ribosomal RNA-processing protein 46 protein-coding ENSG00000077348 24662 16222 606492 VALIDATED 1317344 EXOSC9 exosome component 9 This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 4 4 q27 122941922 122957626 + 122722472 122738176 + 1580863;6480464 21252943;11879549;14667819;15231747;2007859;17545563;17081983;15635413;14872500;12788944;12477932;12419256;11812149;11782436;11719186;11110791;10465791;16730941;21145461;22939629;20936779;16455498;17174896;19394292;21139048;21693764;21906983;19471022;21628590;20531386;20531389;22505724 5393 D6R905;D6RA17;D6RAP4;D6RIY6;H0Y9L5;Q06265 ABBA01044731;AC079341;AJ505989;AJ517294;AK301967;AK307548;AK310894;AMYH01014492;BC012371;BC142978;BU615347;BX649106;CH471056;M58460;NG_029848;NM_001034194;NM_005033;U09215 AAA18832;AAA58384;AAI40039;AAI40040;AAI42979;AAY40968;BAG63380;CAD44530;CAD56889;EAX05247;EAX05248;EAX05249;EAX05250;EAX05251;EAX05252;NP_001029366;NP_005024;Q06265 Hs.91728 1652185;1655983;2172869 SHGC-24740;SHGC-59677;STS-N26050 PM/Scl-75;PMSCL1;RRP45;Rrp45p;p5;p6 OTTHUMP00000158989;OTTHUMP00000218281;OTTHUMP00000218283;P75 polymyositis-scleroderma overlap syndrome associated autoantigen;P75 polymyositis-scleroderma overlap syndrome-associated autoantigen;PMSCL autoantigen, 75kD;autoantigen PM/Scl 1;exosome complex component RRP45;exosome complex exonuclease RRP45;polymyositis/scleroderma autoantigen 1;polymyositis/scleroderma autoantigen 1 (75kD);polymyositis/scleroderma autoantigen 1, 75kDa;polymyositis/scleroderma autoantigen 75 kDa APPROVED protein-coding ENSG00000123737 9137 07315 606180 REVIEWED 1320266 EXOSC7 exosome component 7 3 3 3 p21.31 44955701 44992110 + 44992768 45027966 + 45017741 45054158 + 1580863;6480464 11849973;11812149;11719186;16189514;15635413;15489334;15231747;14702039;12477932;12419256;11879549;11790298;11110791;7788527;21509594;12788944;17174896;21832049;22939629;18781797;21139048;21890473;21628590;20531386;20531389;22174317;22505724 23016 B2RDZ9;Q15024 ABBA01024735;AC104165;AK090511;AK130053;AK295779;AK315741;AMYH01013126;BC012831;BU153856;CH471055;D29958;NM_015004;NR_023353 AAH12831;BAA06226;BAG38096;BAG58602;EAW64731;EAW64732;EAW64733;EAW64734;NP_055819;Q15024 Hs.719958 2112564;2112662;2143138;2155807;2155809;5014722;5021496;5096702 A005N25;D3S2978;D3S4208;D3S4422;D3S4426;G20351;RH25340;WI-22458 EAP1;FLJ26543;KIAA0116;RRP42;Rrp42p;hRrp42p;p8 OTTHUMP00000164126;exosome complex component RRP42;exosome complex exonuclease RRP42;ribosomal RNA-processing protein 42 protein-coding ENSG00000075914 28112 09401 606488 VALIDATED 1604627 EXPH5 exophilin 5 11 11 11 q22.3 105531076 105619294 - 107884886 107969570 - 108376158 108464374 - 6480464 15489334;15342556;15231748;12590134;12477932;12062444;11773082;9734811;20936779;12189142;23176819;16880209;19966785;21906983;19322201 23086 E7ENT4;E9PC93;E9PIT1;E9PPH6;F5GXG5;Q149M6;Q8NEV8 AB014524;ABBA01039864;ABBA01039865;AI203086;AK025008;AK303993;AK304212;AL050204;AMYH01004022;AP000871;AP002453;AP005718;AY099469;BC026281;BC031034;BC113119;BC117701;BP358360;CH471065;CR627226;DC415184;DC416995;NM_015065 AAI13120;AAI17702;AAM44402;BAA31599;BAG64910;BAG65085;CAH10364;EAW67121;NP_055880;Q8NEV8 Hs.28540 1644720;1669427;1706596;1706898;1855742;2146507;2220014;5015879;5015961;5020274;5020881;5022450;5022578;5022651;5037552;5122295 D10S275;D11S1294;D11S2921;D11S4669;D15S1477;D1S1423;D8S2279;GDB:314949;L17709;L18441;SHGC-52610;SHGC-80937;SHGC-82695;SLAC2-B__5426;STS-N32319;STS-T89299 DKFZp586F1223;DKFZp781H0795;KIAA0624;MGC133291;MGC134967;SLAC2-B;SLAC2B OTTHUMP00000233304;OTTHUMP00000233305;OTTHUMP00000233306;OTTHUMP00000238459;exophilin-5;slp homolog lacking C2 domains b;synaptotagmin-like homologue lacking C2 domains b;synaptotagmin-like protein homolog lacking C2 domains b protein-coding ENSG00000110723 30578 08341 612878;615028 VALIDATED 1348647 EXTL2P1 exostoses (multiple)-like 2 pseudogene 1 2 2 q31.1 170313801 170314205 + 176707626 176708030 + 9450183;9450183;21130836 100287682 ABBA01062211;AC016751;AMYH01011292;NG_016787 1685293 RH79824 EXTL2P APPROVED pseudo 3517 INFERRED 1314633 EXOSC8 exosome component 8 This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009] 13 13 13 q13.1 18641920 18650994 + 36472917 36481538 + 37574678 37583751 + 1580863;6480464 15231747;16912217;15635413;15489334;14702039;12477932;12419256;11929972;11812149;11719186;9466265;8889548;11158571;7604013;12788944;17174896;17545563;22990118;22939629;16196087;21139048;23314748;20531386;20531389 11340 H7C581;H7C5Z2;Q96B26 ABBA01021346;AF025438;AF279901;AK096810;AK126602;AL050353;AL138706;AMYH01005041;BC020773;BM697343;BU687776;CH471075;NM_181503 AAC39558;AAH20773;ABM84060;ABM87413;CAI46226;EAX08579;EAX08580;EAX08581;NP_852480;Q96B26 Hs.294041 1670984;2162471;2162473;2167754;5017751;5118444 A001V34;D11S3316;EXOSC8;G19693;RH11262;RH44456 CIP3;EAP2;OIP2;RP11-421P11.3;RRP43;Rrp43p;bA421P11.3;p9 CBP-interacting protein 3;OIP-2;OTTHUMP00000018264;Opa interacting protein 2;exosome complex component RRP43;exosome complex exonuclease RRP43;opa-interacting protein 2;ribosomal RNA-processing protein 43 APPROVED protein-coding ENSG00000120699 17035 09351 606019 REVIEWED 1319981 EXTL1 exostosin-like glycosyltransferase 1 This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008] 1 1 1 p36.1 24744947 24759633 + 26220858 26235542 + 26348271 26362955 + 1580863;6480464;6907045 15489334;15110891;12477932;12417417;11390981;10575224;10480354;17474147;9037597;16710414;16344560 2134 Q92935 ABBA01034895;AF083633;AF153980;AL391650;AMYH01000394;BC065528;CH471059;DA182373;NM_004455;R67266;U67191 AAC51141;AAD02840;AAF73172;AAH65528;EAX07851;NP_004446;Q92935 Hs.150956 1680803;1777360;1858283;2108075 EXTL1_8336;RH66544;SHGC-74403;STS-R37350 EXTL;MGC70794 OTTHUMP00000008700;alpha-N-acetylglucosaminyltransferase II;exostoses (multiple)-like 1;exostosin-L;exostosin-like 1;glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase;glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase;multiple exostosis-like protein APPROVED protein-coding ENSG00000158008 3515 03441 601738 REVIEWED 1313966 EXT1 exostosin glycosyltransferase 1 This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] 8 8 q24.11 118880783 119193239 - 118811602 119124058 - 1598916;1580863;6480464;6907045;7240710 8981950 11518722;15586175;15489334;15385438;12907685;12477932;12032595;12907669;17353931;10639137;17761672;7550340;10878610;9620772;19453261;19344451;19309273;19179614;18976157;18810975;18373409;18330718;18216313;17676624;17610078;17589361;17341731;17301954;16638657;16283885;16088908;15985493;15796962;11391482;11169766;10679937;10679296;10545594;10480354;10441575;9756849;9521425;9463333;9326317;9119404;8530105;8317501;1757967;1684953;11432960;22820392;23262345;20418910;20578942;19839753;19893584;20025490;20618940;22637216;20301413;20813973;21039224;21280143;21499719;21703028;22037484;22040554;23450490;23251661 2131 F8WF54;H7C1H6;Q16394 ABBA01037800;ABBA01037801;ABBA01037802;ABBA01037803;ABBA01037804;AC021937;AC113188;AK130054;AK313129;AMYH01018984;AMYH01018985;AP003476;BC001174;CH471060;NG_007455;NM_000127;S79639;U70539 AAB62283;AAC51154;AAH01174;ABM82794;ABM85982;BAG35949;EAW91972;NP_000118;Q16394 Hs.492618 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091;REN14092;REN14093;REN14094;REN14095;REN14096;REN14097;REN14098;REN14099;REN14100;REN14101;REN14102;REN14103;REN14104;REN14105;REN14106;REN14107;REN14108;REN14109;REN14110;REN14111;REN14112;REN14113;REN14114;REN14115;REN14116;REN14117;REN14118;REN14119;REN14120;REN14121;REN14122;REN14123;REN14124;REN14125;REN14126;REN14127;REN14128;REN14129;REN14130;REN14131;REN14132;REN14133;REN14134;REN14135;REN14136;REN14137;REN14138;REN14139;REN14140;REN14141;REN14142;REN14143;REN14144;REN14145;REN14146;REN14147;REN14148;REN14149;REN14150;REN14151;REN14152;REN14153;REN14154;REN14155;REN14156;REN14157;REN14158;REN14159;REN14160;REN14161;REN14162;REN14163;REN14164;REN14165;REN14166;REN14167;REN14168;REN14169;REN14170;REN14171;REN14172;REN14173;REN14174;REN14175;REN14176;REN14177;REN14178;REN14179;REN14180;REN14181;REN14182;REN14183;REN14184;REN14185;REN14186;REN14187;REN14188;REN14189;REN14190;REN14191;REN14192;REN14193;REN14194;REN14195;REN14196;REN14197;REN14198;REN14199;REN14200;REN14201;REN14202;REN14203;REN14204;REN14205;REN14206;REN14207;REN14208;REN14209;REN14210;REN14211;REN14212;REN14213;REN14214;REN14215;REN14216;REN14217;REN14218;REN14219;REN14220;REN14221;REN14222;REN14223;REN14224;REN14225;REN14226;REN14227;REN14228;REN14229;REN14230;REN14231;REN14232;REN14233;REN14234;REN14235;REN14236;REN14237;REN14238;REN14239;REN14240;REN14241;REN14242;REN14243;REN14244;REN14245;REN14246;REN14247;REN14248;REN14249;REN14250;REN14251;REN14252;REN14253;REN14254;REN14255;REN14256;REN14257;REN14258;REN14259;REN14260;REN14261;REN14262;REN14263;REN14264;REN14265;REN14266;REN14267;REN14268;REN14269;REN14270;REN14271;REN14272;REN14273;REN14274;REN14275;REN14276;REN14277;REN14278;REN14279;REN14280;REN14281;REN14282;REN14283;REN14284;REN14285;REN14286;REN14287;REN14288;REN14289;REN14290;REN14291;REN14292;REN14293;REN14294;REN14295;REN14296;REN14297;REN14298;REN14299;REN14300;REN14301;REN14302;REN14303;REN14304;REN14305;REN14306;REN14307;REN14308;REN14309;REN14310;REN14311;REN14312;REN14313;REN14314;REN14315;REN14316;REN14317;REN14318;REN14319;REN14320;REN14321;REN14322;REN14323;REN14324;REN14325;REN14326;REN14327;REN14328;REN14329;REN14330;REN14331;REN14332;REN14333;REN14334;REN14335;REN14336;REN14337;REN14338;REN14339;REN14340;REN14341;REN14342;REN14343;REN14344;REN14345;REN14346;REN14347;REN14348;REN14349;REN14350;REN14351;REN14352;REN14353;REN14354;REN14355;REN14356;REN14357;REN14358;REN14359;REN14360;REN14361;REN14362;REN14363;REN14364;REN14365;REN14366;REN14367;REN14368;REN14369;REN14370;REN14371;REN14372;REN14373;REN14374;REN14375;REN14376;REN14377;REN14378;REN14379;REN14380;REN14381;REN14382;REN14383;REN14384;REN14385;REN14386;REN14387;REN14388;REN14389;REN14390;REN14391;REN14392;REN14393;REN14394;REN14395;REN14396;REN14397;REN14398;REN14399;REN14400;REN14401;REN14402;REN14403;REN14404;REN14405;REN14406;REN14407;REN14408;REN14409;REN14410;REN14411;REN14412;REN14413;REN14414;REN14415;REN14416;REN14417;REN14418;REN14419;REN14420;REN14421;REN14422;REN14423;REN14424;REN14425;REN14426;REN14427;REN14428;REN14429;REN14430;REN14431;REN14432;REN14433;REN14434;REN14435;REN14436;REN14437;REN14438;REN14439;REN14440;REN14441;REN14442;REN14443;REN14444;REN14445;REN14446;REN14447;REN14448;REN14449;REN14450;REN14451;REN14452;REN14453;REN14454;REN14455;REN14456;REN14457;REN14458;REN14459;REN14460;REN14461;REN14462;REN14463;REN14464;REN14465;REN14466;REN14467;REN14468;REN14469;REN14470;REN14471;REN14472;REN14473;REN14474;REN14475;REN14476;REN14477;REN14478;REN14479;REN14480;REN14481;REN14482;REN14483;REN14484;REN14485;REN14486;REN14487;REN14488;REN14489;REN14490;REN14491;REN14492;REN14493;REN14494;REN14495;REN14496;REN14497;REN14498;REN14499;REN14500;REN14501;REN14502;REN14503;REN14504;REN14505;REN14506;REN14507;REN14508;REN14509;REN14510;REN14511;REN14512;REN14513;REN14514;RH119161;RH12134;RH121606;RH36202;RH47747;RH48104;RH71164;RH91558;SHGC-142370;SHGC-154088;SHGC-30460;SHGC-57968;SHGC-83735;SHGC-85820;STS-T91504;WI-17147;WIAF-2100;stSG630756;stSG630757;stSG630758;stSG630759;stSG630760;stSG630761;stSG630762;stSG630763;stSG630764;stSG630765;stSG630771;stSG630772;stSG630773;stSG630775;stSG630777;stSG630778;stSG630780;stSG630781;stSG630782;stSG630783;stSG630784;stSG630785;stSG630786;stSG630789;stSG630790;stSG630791;stSG630792;stSG630793;stSG630794;stSG630795;stSG630796;stSG630797;stSG630798;stSG630799;stSG630801;stSG630802;stSG630803;stSG630804;stSG630805;stSG630806;stSG630807;stSG630808;stSG630809;stSG630810;stSG630811;stSG630813;stSG630815;stSG630816;stSG630818;stSG630819;stSG630820;stSG630821;stSG630822;stSG630826;stSG630827;stSG630828;stSG630829;stSG630830;stSG630831;stSG630832;stSG630834;stSG630835;stSG630836;stSG630837;stSG630840;stSG630841;stSG630842;stSG630843;stSG630844;stSG630845;stSG630846;stSG630847;stSG630851;stSG630852;stSG630853;stSG630854;stSG630855;stSG630856;stSG630857;stSG630859;stSG630860;stSG630861;stSG630862;stSG630863;stSG630864;stSG630865;stSG630866;stSG630867;stSG630868;stSG630869;stSG630870;stSG630871;stSG630873;stSG630874;stSG630876;stSG630877;stSG630878;stSG630879;stSG630880;stSG630882;stSG630885;stSG630886;stSG630887;stSG630888;stSG630889;stSG630890;stSG630892;stSG630893;stSG630894;stSG630897;stSG630898;stSG630899;stSG630900;stSG630901;stSG630902;stSG630903;stSG630905;stSG630906;stSG630907;stSG630910;stSG630912;stSG630914;stSG630915;stSG630916;stSG630917;stSG630918;stSG630921;stSG630922;stSG630923;stSG630924;stSG630925;stSG630926;stSG630927;stSG630928;stSG630929;stSG630930;stSG630931;stSG630932;stSG630933;stSG630934;stSG630935;stSG630936;stSG630937;stSG630938;stSG630939;stSG630940;stSG630941;stSG630942;stSG630943;stSG630944;stSG630945;stSG630946;stSG630947;stSG630948;stSG630950;stSG630951;stSG630952;stSG630953;stSG630954;stSG630956;stSG630957;stSG630958;stSG630959;stSG630960;stSG630961;stSG630962;stSG630963;stSG630964;stSG630965;stSG630966;stSG630967;stSG630969;stSG630970;stSG630971;stSG630974;stSG630975;stSG630976;stSG630978;stSG630981;stSG630982;stSG630983;stSG630984;stSG630985;stSG630986;stSG630988;stSG630989;stSG630990;stSG630991;stSG630992;stSG630993;stSG630994;stSG630995;stSG630996;stSG630997;stSG630998;stSG630999;stSG631001;stSG631002;stSG631003;stSG631004;stSG631005;stSG631006;stSG631008;stSG631009 EXT;LGCR;LGS;TRPS2;TTV Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase;Langer-Giedion syndrome chromosome region;N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase;OTTHUMP00000066043;exostoses (multiple) 1;exostosin 1;exostosin-1;glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;multiple exostoses protein 1;putative tumor suppressor protein EXT1 APPROVED protein-coding 3512 00598 133700;215300;608177 REVIEWED 1317052 EXT2 exostosin glycosyltransferase 2 This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11 11 p12-p11 44073675 44223556 + 44117099 44266980 + 1580863;6480464;6907045;7240710 17676624;12907669;17353931;17761672;9326317;10878610;19453261;19380854;19344451;19336475;19309273;19179614;19008344;18666861;18633108;18597214;18544707;18373409;18294062;18210030;17928989;17786204;17293876;16638657;16283885;16088908;15796962;15586175;15489334;14654969;12907685;12477932;11668521;11432960;11391482;11170095;11169766;10738008;10679937;10679296;10639137;10545594;10480354;10429361;9756849;9620772;9576285;9463333;9110175;8894688;8782816;8162019;7668264;17589361;17301954;22820392;23262345;20418910;19913121;20571754;20580033;20628086;16344560;19839753;19933996;20140877;20379614;20872591;20879858;20813973;21039224;21703028;21510814;21499719;21963094;21988832;21890473;21900206;21906983;21987572;22040554;20301413;23052945;22505724;23450490 2132 E9PJA5;E9PNL9;Q93063 ABBA01060770;ABBA01060771;AC068457;AC103854;AC134775;AK296713;AK309459;AK312375;AMYH01003522;BC010058;BC013050;BC068545;BE348865;BM997250;BX648142;CH471064;DA738392;NG_007560;NM_000401;NM_001178083;NM_207122;U62740;U64511;U67354;U67355;U67368;U72263 AAB07008;AAB62718;AAC50764;AAC51219;AAH10058;AAH68545;ADZ15532;BAG35293;BAH12417;EAW68067;EAW68068;EAW68069;EAW68070;EAW68071;NP_000392;NP_001171554;NP_997005;Q93063 Hs.368404 1334892;1658441;1661165;1668025;1671161;1677118;1716355;1738173;1766485;2136354;2151568;2152070;2165128;7186285 D11S2263E;D11S3805;D11S3975;D11S4650;D11S903;GDB:313855;HSC1YH092;RH121355;RH45722;RH98305;SHGC-149810;STS-N22755;WI-20248 SOTV N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase;OTTHUMP00000233074;OTTHUMP00000233077;OTTHUMP00000233078;exostosin 2;exostosin-2;glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;multiple exostoses protein 2;putative tumor suppressor protein EXT2 APPROVED protein-coding ENSG00000151348 3513 00599 133701;608210 REVIEWED 1601799 EXTL3-AS1 EXTL3 antisense RNA 1 p21.1 12477932 340414 BC043205;BC118569 Hs.667366 5015619;5022450;5024761;5117897 D10S275;D11S3114;GDB:631813;RH36905 C8orf50 APPROVED miscrna 27985 1343253 EYCL1 eye color 1 (green/blue) 3568446 2141 3523 1350666 EYCL3 eye color 3 (brown) 7240710 8875191 2144 3525 203200;227220 735783 EXTL3 exostosin-like glycosyltransferase 3 This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012] 8 8 p21 28615072 28667121 + 28559153 28611202 + 1580863;6480464;6907045 15580265;17474147;19158046;18543267;15489334;12477932;11257457;10753861;10639137;9628581;9479495;9473480;19690583;19653241;20936779;12021770;22158612;10427123;10536173;11390981;17761672;20377530;22727489 2137 E5RIV6;E5RK02;E7ET85;H0YB01;H0YBJ7;O43909 AB007042;AB011091;ABBA01005608;AC131969;AF001690;AF029231;AF083551;AK124619;AK294475;AMYH01018605;AW105691;BC006363;BI911162;BT007353;CH471080;CR749646;DA222815;DA757362;NM_001440;NR_073468;NR_073469;U76188;U96629 AAB67602;AAB93670;AAC39598;AAD01877;AAD42041;AAH06363;AAP36017;ABM81624;ABM84809;BAA24080;BAA25445;BAG57702;CAH18440;EAW63507;EAW63508;EAW63509;NP_001431;O43909 Hs.491354;Hs.744019 1653736;1655043;1716601;1735788;1753215;2147798;2180347;5037552 A002S41;D8S1402E;D8S1403E;D8S2279;RH121646;RH15942;SHGC-110015;STS-M79217 BOTV;DKFZp686C2342;EXTR1;KIAA0519;REG;REGR;RPR EXT-related 1;EXT-related protein 1;OTTHUMP00000128339;OTTHUMP00000225624;exostoses (multiple)-like 3;exostosin tumor-like 3;exostosin-like 3;glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;hereditary multiple exostoses gene isolog;multiple exostosis-like protein 3;putative tumor suppressor protein EXTL3;reg receptor APPROVED protein-coding ENSG00000012232 3518 09306 605744 REVIEWED 1317015 EXTL2 exostosin-like glycosyltransferase 2 1 1 1 p21 99599599 99622103 - 101110529 101133006 - 101337928 101360735 - 1580863;6480464;6907045 10318803;15831490;14702039;12477932;10639137;9473480;9450183;8889548;19690583;15342556;16344560;21833088;23395820 2135 C9IYF5;C9JEG3;F5GZK1;Q8N8F1;Q9UBQ6 AB009284;ABBA01045434;AC104506;AF000416;AK001450;AK096914;AK298124;AK312895;AMYH01000826;AU130571;BC014910;BC036015;BC045681;BP202626;BU689972;BX103291;CH471097;NM_001033025;NM_001261440;NM_001261441;NM_001261442;NM_001439;NR_048570;U76189 AAB93669;AAC02898;AAH14910;AAH36015;AAH45681;BAA24081;BAC04893;BAG35742;BAG60404;EAW72946;EAW72947;EAW72948;NP_001028197;NP_001248369;NP_001248370;NP_001248371;NP_001430;Q9UBQ6 Hs.357637 1658310;1685293;1690546 RH79824;RH93815;WI-20606 EXTR2 EXT-related protein 2;OTTHUMP00000013586;OTTHUMP00000013587;OTTHUMP00000013589;alpha-1,4-N-acetylhexosaminyltransferase EXTL2;alpha-1,4-N-acteylhexosaminyltransferase;alpha-GalNAcT EXTL2;exostoses (multiple)-like 2;exostosin-like 2;glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase;processed exostosin-like 2 APPROVED protein-coding ENSG00000162694 3516 03876 602411 VALIDATED 1320540 EYA3 eyes absent homolog 3 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. A similar protein in mice acts as a transcriptional activator. [provided by RefSeq, Jul 2008] 1 1 1 p36 26696435 26810762 - 28173406 28287718 - 28296855 28415148 - 1580863;6480464 19234442;19351884;9020840;9049631;14628042;12477932;12215533;10490620;9887327;19008232;16751776;17286855;22723308 2140 B1APR7;B4DIR7;B4DNZ7;Q8IVX7;Q99504 ABBA01035007;ABBA01035008;ABBA01035009;ABBA01035010;AJ007991;AK289805;AK295745;AK298129;AK303664;AL137792;AL512288;AL603098;AMYH01000425;AMYH01000426;AMYH01000427;BC029500;BC041667;BQ018346;BX648945;CH471059;CR748247;DC416048;DQ426872;DQ576790;NM_001990;U81602;Y10262 AAB42066;AAH29500;AAH41667;ABZ92386;BAF82494;BAG58579;BAG60409;BAG64663;CAA07814;CAA71311;EAX07713;NP_001981;Q99504 Hs.185774 2125029;2152616;2158369;2172812;5037552;5093674 A009U41;D8S2279;G32857;RH18216;SHGC-74454;SHGC-74514 DKFZp686C132 OTTHUMP00000004013;OTTHUMP00000004014;OTTHUMP00000004015;eyes absent 3;eyes absent homolog 3 APPROVED protein-coding ENSG00000158161 3521 09042 601655 REVIEWED 5131322 EZH2P1 enhancer of zeste homolog 2 (Drosophila) pseudogene 1 21 21 21 q22.2 22171376 22171952 + 35893746 35894522 + 36971977 36972553 + 10780782;10830953;8954776 266693 ABBA01057373;AF015726;AMYH01012220;NG_002373;NG_011402 1730894 D21S17 pseudo 39918 INFERRED 1317054 EYA1 eyes absent homolog 1 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 q13.3 72272222 72437021 - 72109668 72274467 - 1598917;1580863;6480464;7240710 9361030 7829101;22447252;17049623;16797546;16691597;16441263;16344560;16005355;15493068;15489334;15226428;15141091;12874121;12701758;12500905;12404110;12070080;11950062;11734542;11683347;11558900;17637804;11409867;10991693;10655545;10490620;10464653;9853969;9603436;9428512;9359046;8889548;19234442;9020840;19240061;19213029;19206155;18220287;18065799;17903308;2154751;20634891;12477932;15492887;19497856;19667416;19789318;20209935;20979191;20956555;21280147;21955869;20301554;23144326;23263983 2138 A6NCB9;E5RHZ7;E5RIQ7;E7EQM5;F8WB53;Q99502 ABBA01041946;AC016465;AC022858;AF467247;AJ000097;AJ000098;AJ786168;AJ786169;AK127798;AK295897;AK307379;AMYH01018783;BC121798;BC121799;BI497179;BU679404;CH471068;DA618315;DB004805;DC409057;NG_011735;NM_000503;NM_172058;NM_172059;NM_172060;Y10260 AAI21799;AAI21800;AAL73437;BAG54573;BAG58690;CAA03922;CAA03923;CAA71309;CAH05072;CAH05073;EAW86973;EAW86974;EAW86975;EAW86976;EAW86977;EAW86978;EAW86979;EAW86980;NP_000494;NP_742055;NP_742056;NP_742057;Q99502 Hs.491997 1690338;1726325;1752395;2107067 EYA1__7613;G62463;RH94070;SHGC-106306 BOP;BOR;BOS1;MGC141875 OTTHUMP00000195053;OTTHUMP00000195054;OTTHUMP00000195055;OTTHUMP00000195106;OTTHUMP00000195107;OTTHUMP00000195108;eyes absent homolog 1 APPROVED protein-coding ENSG00000104313 3519 03388 113650;166780;601653;602588 REVIEWED 7242889 EZR-AS1 EZR antisense RNA 1 101409257 AI831881;BE552153;BX119561;NR_102425 Hs.571207 miscrna 40609 VALIDATED 1343004 EYS eyes shut homolog (Drosophila) The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 6 6 q12 66101527 66346418 - 64429876 66417118 - 7240710 18976725;18836446;18510647;18510646;14574404;12975309;12477932;11181995;10417302;9585594;20696082;21069908;20237254;20333770;20379614;20375346;20537394;21179430;21697133;21519034;22302105;21826682;22363543;20301590;22993228;23382691 346007 F8WDD3;H0Y3Q4;Q9H557 AB593112;AB593114;ABBA01023931;ABBA01023932;ABBA01023933;ABBA01023934;ABBA01023935;ABBA01023936;ABBA01023937;ABBA01023938;ABBA01023939;ABBA01023940;ABBA01023941;ABBA01023942;ABBA01023943;ABBA01023944;ABBA01023945;ABBA01023946;ABBA01023947;ABBA01023948;ABBA01023949;ABBA01023950;ABBA01023951;ABBA01023952;ABBA01023953;ABBA01023954;AK310478;AL050329;AL078597;AL109612;AL109922;AL132767;AL133322;AL137007;AL353153;AL353669;AL354913;AL355357;AL356454;AL357375;AL365217;AL445677;AL450319;AL450324;AL450394;AL589916;AL590546;AL590784;AL603767;AMYH01016388;AMYH01016389;AMYH01016390;AMYH01016391;AMYH01016392;AMYH01016393;AMYH01016394;AMYH01016395;AMYH01016396;AMYH01016397;AY358133;BC133011;BC133013;BX537914;BX647741;CH471143;FJ416331;FM209056;NG_023443;NM_001142800;NM_001142801;NM_198283 AAI33012;AAI33014;AAQ88500;ACJ37365;BAJ84052;BAJ84054;CAB99359;CAR64275;EAW88497;NP_001136272;NP_001136273;NP_938024;Q5T1H1 Hs.25067 1337496;1337640;1338117;1341876;1653493;1665682;1665997;1669921;1671073;1673804;1673862;1689536;1700004;1701198;1703852;1704144;1710032;1710812;1714947;1718677;1719111;1720543;1720715;1726863;1726901;1727045;1747933;1748635;1748953;1749001;1749269;1751621;1751631;1753663;1756567;1762703;1763401;1768607;1779618;1779718;1780258;2111438;2139274;2141622;2161389;2183049;2185779;2185977;5015615;5020423;5021564;5115198;5491226 At-8L-277;D11S1053;D11S2442;D11S3076;D6S1026;D6S1053;D6S1483;D6S1644;D6S1670;D6S1781;D6S1927;D6S2095;D6S2168;D6S257;G02278;G10330;G15820;G17024;G17071;G59225;G59329;G62674;G62694;G62921;G66860;GDB:313581;RH103614;RH104227;RH120469;RH123029;RH123273;RH27494;RH35666;RH48018;SHGC-105599;SHGC-105602;SHGC-107529;SHGC-110287;SHGC-110602;SHGC-110641;SHGC-110952;SHGC-143598;SHGC-146498;SHGC-147117;SHGC-153589;SHGC-153692;SHGC-154814;SHGC-79141;SHGC-79767;SHGC-82290;SHGC-84150;STS-AA020982;WI-4212 C6orf178;C6orf179;C6orf180;EGFL10;EGFL11;KIAA0663;RP25;SPAM;bA166P24.2;bA307F22.3;bA74E24.1;dJ1018A4.2;dJ22I17.2;dJ303F19.1 EGF-like protein 10;EGF-like protein 11;EGF-like-domain, multiple 10;EGF-like-domain, multiple 11;OTTHUMP00000016688;OTTHUMP00000179129;OTTHUMP00000213100;OTTHUMP00000217891;epidermal growth factor-like protein 10;epidermal growth factor-like protein 11;notch-like;protein eyes shut homolog;protein spacemaker homolog;spacemaker APPROVED protein-coding ENSG00000188107 21555 16853 602772;612424 REVIEWED 1316090 EYA4 eyes absent homolog 4 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 q23 133604188 133894358 + 133562495 133853258 + 1598455;1580863;6480464;7240710 15735644 17568404;9887327;18464913;18219393;17567890;16964243;16344560;15489334;14574404;12477971;12477932;11159937;10769282;8776603;21061259;15492887;19901965;19939248;20379614;22589738;22566498;20301486;20301607 2070 E7ESD5;E9PLN6;F2Z2Y1;O95677;Q96CJ7 ABBA01025870;ABBA01025871;ABBA01025872;ABBA01025873;AJ007993;AJ007994;AK295798;AK299378;AK301950;AL024497;AL121959;AL356242;AL450270;AMYH01016681;AMYH01016682;AMYH01016683;AW613879;BC014193;BC030588;BC041063;BX490250;CH471051;DA760903;NG_011596;NM_004100;NM_172103;NM_172105;Y17114;Y17847 AAH14193;AAH41063;ABZ92385;BAG58618;BAG61368;BAH13593;CAA07816;CAA07817;CAA76636;CAA76891;EAW48004;EAW48005;EAW48006;NP_004091;NP_742101;NP_742103;O95677 Hs.596680 1337954;1655310;1684824;1694176;1695598;1711958;1717477;1770672;1776716;2108765;2177530;5126081;7185316 AL008749;D6S2411;D6S292;D6S975;EYA4__7614;G49694;RH122244;RH16384;RH36228;RH47434;RH91846;SGC35210;SHGC-68688 CMD1J;DFNA10 OTTHUMP00000017235;OTTHUMP00000017236;OTTHUMP00000233943;OTTHUMP00000233944;OTTHUMP00000233945;OTTHUMP00000233946;OTTHUMP00000233947;dJ78N10.1 (eyes absent);eyes absent homolog 4 APPROVED protein-coding ENSG00000112319 3522 04648 601316;603550;605362 REVIEWED 1350703 EYA2 eyes absent homolog 2 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009] 20 20 q13.1 44956916 45250899 + 45523263 45817492 + 1580863;6480464 19351884;9020840;19414679;16189514;15705892;15489334;14702039;12500905;12477932;12039049;11780052;10906137;9887327;9195991;9110174;9049631;8619474;10490620;19913121;20628086;19497856;19858093;20201926;20379614;19950702;18029348;22589738;21706047;22607316;22678362;23400010;23435380;22987659 2139 B1AKW3;E7ETN2;Q9H4S3 ABBA01052687;ABBA01052688;ABBA01052689;ABBA01052690;ABBA01052691;AF055015;AF387364;AF455147;AF455148;AF455149;AF455150;AJ007992;AK093582;AK293032;AL049540;AL121776;AL354766;AL359434;AL390211;AMYH01011945;AMYH01011946;AY705349;BC000289;BC008803;BC013882;BT006682;CH471077;NG_011673;NM_005244;NM_172110;U71207;U81601;Y10261 AAB42065;AAB51120;AAC09362;AAH00289;AAH08803;AAH13882;AAK62466;AAK62467;AAL57874;AAL57875;AAL57876;AAL57877;AAL57878;AAP35328;AAU11525;ADZ15506;BAF85721;CAA07815;CAA71310;CAI23166;EAW75720;EAW75721;EAW75722;NP_005235;NP_742108;O00167 Hs.472877;Hs.722040;Hs.722415;Hs.722416 1660892;1667151;1667581;1671968;1673220;1678575;1761589;1772788;1853164;2108077;2146238;2147473;2149765;2171739 AL021631;AL021632;D20S1107;D20S791;D20S796;D20S797;D20S817;EYA2_8337;G01530;G05261;RH16187;SHGC-145586;SHGC-8524;WI-14748 EAB1;MGC10614 OTTHUMP00000031666;OTTHUMP00000214835;OTTHUMP00000214836;eyes absent homolog 2 APPROVED protein-coding ENSG00000064655 3520 09041 601654 REVIEWED 1312813 EZH1 enhancer of zeste homolog 1 (Drosophila) EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009] 17 17 17 q21.1-q21.3 37507762 37552422 - 38105819 38150574 - 40852293 40897071 - 1580863;6480464;7240710 7774926;8921387;19026781;19026780;15489334;12477932;9584197;9473645;9205841;7774925;7774924;7490091;9566901;16565076;18029348;20819778;21906983;22215809 2145 K7EIH5;K7EJU6;K7EK26;K7EK66;K7EM79;K7ENP2;K7EPC0;K7ESB9;Q53XP3 AB002386;AB004818;ABBA01006409;ABBA01006410;ABBA01006411;ABBA01006412;ABBA01006413;ABBA01006414;AC100793;AK295626;AK295853;AK299887;AK304835;AK309121;AK310399;AK310556;AK311237;AL833159;AMYH01008398;BC015882;BT009782;CH471152;DC333017;L38934;L38938;NM_001991;U50315 AAB59574;AAC50778;AAH15882;AAP88784;BAA20842;BAA25019;BAG58503;BAG58659;BAG61734;BAG65579;EAW60870;EAW60871;NP_001982;Q92800 Hs.194669 1649949;1663140;1754573;1790671;2131701;2135755;2149000;5016675;5022578;5022651 BARC0021;D11S2921;D17S2003;D1S1423;RH70658;RH79740;SHGC-132859;SHGC-53562;STS-Z40888;WI-16114 KIAA0388;KMT6B ENX-2;histone-lysine N-methyltransferase EZH1 APPROVED protein-coding ENSG00000108799 3526 03397 277590;601674 VALIDATED 1345372 F12 coagulation factor XII (Hageman factor) This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] 5 5 q33-qter 176761745 176769183 - 176829139 176836577 - 1601106;1580863;1601107;2290183;2312416;6480464;6907045;7240710 16638441;2510163;10048754;7974333 18725990;8665943;6793628;89876;19646235;19625260;19477491;19474702;19422815;19420105;19415820;19204433;19178938;19178407;19127083;18974842;18832903;18793325;18765660;18710647;18441012;18327401;18278180;18180442;18024408;18021303;17982641;17825897;17605651;17408404;17186468;17143557;17139385;16493494;16411408;16335952;16199891;16170239;16167952;16157382;16015420;15749685;15748262;15617741;15567455;15306750;15257949;15232129;15205584;15116249;15000805;14760718;14718574;14597972;12876626;12492481;12477932;12208481;12052484;11843842;11821096;11805911;11792853;11776307;11589915;11248286;11204562;10930399;10801853;10361128;9490684;9354665;8710908;8641707;8528215;8049433;6604055;4140832;3886654;3877053;3754331;3521732;3361230;3198120;3162339;3011063;2888762;2882793;1998666;1544894;21297451;19913121;20532885;20628086;20673868;20814302;20383146;21546496;19372376;19448530;19578796;19647418;19698288;19786295;19878657;19933701;19933990;20142324;20143645;20303064;20452482;20589311;21071604;19809305;20386432;20228268;20022356;21071930;20729721;21264442;21304106;18838541;21192253;22905925;22993391;21631522;21512133;21849258;21828145;22703881;22286219;22396660;22500857;23381795;22916037;22920075 2161 P00748;Q8IZZ5 AB095845;ABBA01033457;AC145098;AF538691;AM262522;AMYH01015874;BC012390;BE139501;BT007350;CH471195;L43615;M11723;M13147;M17464;M17466;M31315;NG_007568;NM_000505;U71274;U71275;U71276;U71277;U71278 AAA51986;AAA70224;AAA70225;AAB51203;AAB51204;AAB51205;AAB51206;AAB51207;AAB59490;AAB59491;AAH12390;AAI68381;AAM97932;AAP36014;BAC23095;CAK18991;EAW85002;EAW85003;EAW85004;EAW85005;NP_000496;P00748 Hs.1321 1650706;1665717;2147603;2182319 RH47779;RH67849;RH70295;STS-W95094 HAE3;HAEX;HAF Hageman factor;OTTHUMP00000223845;beta-factor XIIa part 1;beta-factor XIIa part 2;coagulation factor XII;coagulation factor XIIa heavy chain;coagulation factor XIIa light chain APPROVED protein-coding ENSG00000131187 3530 01992 234000;610618;610619 REVIEWED 1349196 F13A2 coagulation factor XIII, A2 polypeptide 2163 3532 1344690 F13A3 coagulation factor XIII, A3 polypeptide 2164 3533 1312683 EZH2 enhancer of zeste homolog 2 (Drosophila) This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] 7 7 q35-q36 148135408 148212347 - 148504464 148581441 - 1580863;6480464;7242554;7240710 22194015 21165554;21399658;22190405;8954776;16357870;17560333;8921387;15385962;19340297;19289832;19258506;19099573;19079346;19074885;19047178;19026781;19008416;18980972;18806826;18713946;18637271;18628979;18623083;18591938;18502945;18488029;18430739;18406871;18377425;18285464;18269588;18159594;18095286;17996646;17911618;17804093;17694325;17676662;17640228;17596871;17545586;17541304;17502350;17453341;17344414;17332078;17237810;17172412;17134822;17081983;17018586;16964243;16963837;16855786;16717091;16575874;16565220;16489070;16361539;16331887;16314526;16224021;16215315;16189514;16169070;16015586;15882624;15856046;15817459;15536069;15302935;15225548;15208672;15099518;15077161;14965441;14702039;14532106;14500907;12853948;12690205;12477932;12374981;11571280;11342607;10780782;10581039;9742080;9584199;9584197;9499421;9214638;8889548;8649418;14610174;22287205;22544210;22563434;22593192;22588437;19578722;20402834;20564407;20616235;17937919;21325804;20479932;20573371;20671031;21406404;21685935;22222375;19202064;20724984;20569692;16179254;16565076;18453536;18519590;18931660;19279403;19386347;19564843;19709408;19723877;19773751;19901851;19904743;19934278;19934320;19969553;20015867;20081860;20087897;20123894;20127006;20132185;20369694;20379614;20478527;19026780;19661437;20211142;20863566;20935635;20684863;12351676;18483221;21078963;21199804;19893569;20601953;20601954;20480530;22675170;22696229;22766604;23239736;16431907;20736451;20952513;20478051;15146197;20864510;22527102;22705924;22939629;20858097;21115743;21205084;21232178;21087793;21216957;21190999;15520282;15684044;18385154;21131960;20686362;21233829;21289264;21307773;21321380;21339190;21368858;21378168;21215703;21292308;21515604;20920340;21932133;23283488;23395645;23523787;22930729;22948084;23300840;23354591;21614903;20306127;21125401;23562851;21339759;21383005;20800574;21297974;21703114;21367748;21455215;21609503;21719208;21884980;20714105;21715480;23529930;23079660;22871469;23135913;21116854;21765901;21921784;21399615;21512140;22766277;21228036;21539681;21629038;20946108;21123648;21135039;21143197;21151833;21151932;21856302;21572997;21499305;21532618;21828135;21769904;21900206;21761357;21865393;22272343;22315224;22330138;22659877;21659531;21941025;22009739;21546904;22068036;21139048;21513699;21890473;21906983;21914347;21921040;22187039;22215809;22442719;22465358;21989926;21926398;22194861;22349693;22383679;22505648;22552406;22609199;21837672;22237151;21697275;22177091;20467438;22094255;22094256;22439931;22897849;23077658;22855181;23163606;23294722;21903722;22431509;22469510;21713757;22308284;22323599;22235851;21614565;21892211;22677129;22211105;22266912;22370893;22450781;22972404;22992977;23121604;23486531;23624935;23116973;23190500;23455924;22161744;22994729;23001607;23421437;11158321;21396836;22436627;22505724;22809481;22850114;22869879;22956625;23063525;22914328;22867052;23099237;21690062;22800347;23159737 2146 B7Z8L6;E9PDH6;G3XAL2;Q96FI6 A58329;AACC02000041;AB208895;ABBA01033596;ABBA01033597;ABBA01033598;ABBA01033599;AC006323;AC073140;AK092676;AK293239;AK302216;AK303585;AK303637;AK314291;AMYH01018115;AY519465;BC010858;BG829016;BM974565;BU953788;CH471146;CN283479;JF327843;JF939048;NG_032043;NM_001203247;NM_001203248;NM_001203249;NM_004456;NM_152998;U52965;U61145;X95653 AAC50591;AAC51520;AAH10858;AAS02035;AAS02036;AAS07448;AAS09975;ABM85105;AEA07595;AEN79481;BAD92132;BAG36948;BAG52592;BAH11472;BAH13652;BAH13991;BAH14002;CAA03482;CAA64955;EAL24423;EAL24424;EAW80067;EAW80068;EAW80069;EAW80070;NP_001190176;NP_001190177;NP_001190178;NP_004447;NP_694543;Q15910 Hs.444082;Hs.732308 1339951;1713489;1719543;1759199;2109295;7185271 D7S688;EZH2_7791;RH120228;RH123504;SHGC-132531 ENX-1;ENX1;EZH1;EZH2b;KMT6;KMT6A;MGC9169;WVS;WVS2 OTTHUMP00000213774;OTTHUMP00000213776;OTTHUMP00000213778;OTTHUMP00000213779;OTTHUMP00000213780;OTTHUMP00000214051;enhancer of zeste 2;histone-lysine N-methyltransferase EZH2;lysine N-methyltransferase 6 APPROVED protein-coding ENSG00000106462 3527 03342 277590;601573 REVIEWED 1342967 F10 coagulation factor X This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. [provided by RefSeq, Jul 2008] 13 13 q34 112825114 112851844 + 113777113 113803843 + 1601104;1580376;1580863;2290183;6480464;6907045;7240710 2790181;12356487;10048754 17469850;18267072;3011603;7598447;18612547;2110473;2271516;3052293;8639673;14718574;14982929;19404516;19190817;19188667;19158249;19108874;18991406;18974842;18929857;18784085;18768472;18766253;18765660;18680100;18591887;18506702;18502757;18419747;18403394;18391209;18388497;18296445;18278195;18245654;18198180;18178242;18174463;18062812;18031796;18000611;17973648;17903294;17726015;17646160;17635109;17588602;17553804;17403098;17393015;17391309;17343367;17173931;17118432;17020886;16940049;16935856;16894464;16839353;16580898;16517611;16359518;16212554;16207719;16105945;16079143;16042383;16006504;15924438;15897196;15892863;15882255;15641797;15634274;15567463;15550696;15494418;15489334;15347660;15328360;15326167;15069066;15009463;14979399;14963035;14750502;14739327;14629468;14583605;14576464;14575696;14532267;12941034;12805370;12787023;12574802;12529356;12524437;12490286;12477932;12426309;12379114;12370181;12220193;12163491;12123809;12056907;12036878;12011050;11983337;11914651;11867437;11864704;11854268;11560488;11371191;10828960;10746568;10521497;10460162;10391209;9759621;9734641;9689066;9618463;9596664;9538022;9402754;9198147;9079657;8939944;8702971;8663221;8460120;8428982;8355279;8243461;8146182;8136380;7669671;6871167;6587384;3768336;3487272;3422166;2612918;2582420;2551064;2303476;1902434;1698100;16169070;22008904;20427285;20806114;20806117;19913121;20628086;21871560;20730886;20946166;20347121;19135706;19172319;19244162;19250659;19350128;19350129;19429866;19581306;19652365;19691479;19724895;19843455;19851296;19858193;19874476;19895674;19931652;20062915;20062929;20135059;20198315;9058203;20589317;20664909;20694273;21071689;20140262;20589316;20826780;20156644;16712791;20088935;20088937;22627666;20722419;20634491;20864578;20949078;21156843;22796577;21849463;20454680;20886185;20978714;22905983;21252089;6323392;20451919;20534818;23416531;21682820;22989889;21637339;21885613;21778227;21811937;21596747;21673107;22126652;21139048;21621824;21947241;22224589;22931370;21840043;22424030;22409427;21651559;22160665;22411993;23214401;23019612;22244010;23381943 2159 B7ZBK1;F8WBM7;P00742;Q5JVE7;Q5JVE8 AB005892;ABBA01019861;AF503510;AK310772;AK310775;AK313798;AL137002;AMYH01005396;BC040125;BC046125;CB158437;CH471085;CS355178;EF445049;K01886;K03194;L00390;L29433;M22613;M33297;M57285;NG_009258;NM_000504 AAA51984;AAA52421;AAA52486;AAA52490;AAA52636;AAA52764;AAH46125;AAM19347;ACA06104;BAA21634;BAG36534;CAL24230;EAX09184;EAX09185;NP_000495;P00742 Hs.361463 1769407;1798502;1799766;1806480;1808834;1809506;1809976;1811642;1812956;1814644;1815352;1821164;1824206;1895346;1895348;1895350;1895352;1895354;1895356;1895358;1895360;1895362;1895364;1895366;1895368;1895370;1895372;1895374;1895376;1895378;1895380;1895382;1895384;1895386;1895388;1895390;1895392;1895394;1895396;1895398;1895400;1895402;1895404;1895406;1895408;1895410;1895412;1895414;1895416;1895418;1895420;1895422;1895424;1895426;1895428;1895430;1895432;1895434;1895436;1895438;1895440;1895442;1895444;1895446;1895448;1895450;1895452;1895454;1895456;1895458;1895460;1895462;1895464;1895466;1895468;1895470;1895472;1895474;1895476;1895478;1895480;1895482;2110387;2114078;2166560;2202514;2202516;2202518;2202520;2202522;2202524;2202526;2202528;2202530;2202532 ECD00089;ECD00737;ECD04197;ECD05400;ECD05745;ECD05980;ECD06824;ECD07492;ECD08352;ECD08712;ECD11659;ECD13200;F10;F10-888;F10_3215.2;REN18458;REN18459;REN18460;REN18461;REN18462;REN18463;REN18464;REN18465;REN18466;REN18467;REN18468;REN18469;REN18470;REN18471;REN18472;REN18473;REN18474;REN18475;REN18476;REN18477;REN18478;REN18479;REN18480;REN18481;REN18482;REN18483;REN18484;REN18485;REN18486;REN18487;REN18488;REN18489;REN18490;REN18491;REN18492;REN18493;REN18494;REN18495;REN18496;REN18497;REN18498;REN18499;REN18500;REN18501;REN18502;REN18503;REN18504;REN18505;REN18506;REN18507;REN18508;REN18509;REN18510;REN18511;REN18512;REN18513;REN18514;REN18515;REN18516;REN18517;REN18518;REN18519;REN18520;REN18521;REN18522;REN18523;REN18524;REN18525;REN18526;RH71376;stSG621987;stSG621988;stSG621989;stSG621990;stSG621991;stSG621992;stSG621993;stSG621994;stSG621995;stSG621996 FX;FXA OTTHUMP00000018735;OTTHUMP00000018736;OTTHUMP00000202678;Stuart-Prower factor;coagulation factor X;factor Xa;prothrombinase APPROVED protein-coding ENSG00000126218 3528 01966 227600;613872 REVIEWED 1319673 F11 coagulation factor XI This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008] 4 4 q35 187424112 187447829 + 187187118 187210835 + 1598923;1580863;2290183;6480464;6907045;7240710 2813350;10048754 18515884;12871398;9593722;89876;18839438;18832909;18612554;18441012;18388506;18387979;18327400;18268095;18217146;18192270;18186617;18024374;18020374;18005151;17768109;17652512;17597996;17581330;17549289;17284699;17257616;17229051;16878977;16835901;16613788;16344560;16335952;16330457;16204896;16085935;16079124;16042419;15996948;15870541;15842381;15815621;15634276;15545266;15489334;15456490;15456480;15456479;15375170;15317813;15226185;15090552;15072993;14717969;14629467;14521595;14521591;12944405;12496253;12477932;12372819;12167623;12029092;11895778;11891231;11733491;11412111;10962009;10823824;10606881;10552949;10494760;10391209;10027710;9787168;9401068;9242536;8703832;8555184;7888672;7669672;7044446;6626744;3936495;3636155;2827746;2551064;2052060;2019570;1998667;1952475;1762944;1673289;1652157;1547342;291905;20961395;20727068;19913121;20628086;20456758;15182578;19351955;19583818;19617576;19652879;19661487;19682239;19718484;20042724;20110423;20128871;20352152;20523169;20589316;20339536;20015217;20491955;22961984;21057700;21236471;20308231;22322133;21192253;22633531;21527525;22207756;21649796;22703881;21718436;21980494;21820158;21999818;22159456;22505407;22704541;23305485;23515926;2844223;21668437 2160 D6RB32;E9PGP2;H0Y596;P03951 AB004057;ABBA01070555;ABBA01070556;ABBA01070557;AC110771;AF045649;AK313195;AMYH01014782;AY191837;BC020617;BC029374;BC119014;BC122863;CH471056;DA630863;M13142;M18295;M20218;NG_008051;NM_000128 AAA51985;AAA52487;AAC24506;AAI19015;AAI22864;AAN85554;AAY40901;BAA20295;EAX04619;EAX04620;EAX04621;NP_000119;P03951 Hs.1430 1664721;1670009;1723087;1740951;1741929;1776063;1853840;2122663;2126535;2154496;2158989 D4S3173;G34291;GDB:176411;GDB:186858;RH121982;SHGC-59543;SHGC-67651;SHGC4-1037;SHGC4-1528;SHGC4-289;STS-M13142 FXI;MGC141891 OTTHUMP00000197033;OTTHUMP00000218130;PTA;coagulation factor XI;plasma thromboplastin antecedent APPROVED protein-coding ENSG00000088926 3529 07524 264900;612416 REVIEWED 1350208 EZR ezrin The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008] 6 6 q25.3 159106764 159159247 - 159186773 159240456 - 1580863;6480464;6484113;6907045;7207465;2312475 21777186;14715913 21363921;21171946;10793131;12082081;15498789;11598191;9852149;7844168;19399936;19386264;19366061;19255442;19234486;19165868;19164283;19152423;19129194;19124745;19084535;19060919;19050913;18941185;18852256;18840437;18725408;18701134;18682798;18676680;18552365;18545143;18508927;18486367;18459457;18425081;18305045;18295815;18270268;18203644;18155831;18078820;18046454;17911601;17886294;17881735;17825285;17786474;17726647;17659733;17616675;17538024;17525629;17515952;17370041;17370040;17237445;17028919;16889625;16873375;16677779;16648854;16633060;16554733;16538541;16438931;16352594;16344560;16230228;16144921;16129695;15843435;15797715;15751968;15729356;15677456;15647376;15623525;15531580;15489334;15252013;15178693;15149851;15096511;14981079;14704791;14704789;14676203;14574404;12860416;12808036;12800220;12769842;12734202;12711360;12651155;12626536;12560083;12477932;12429733;12385025;12370738;12360288;12271120;12111362;12080047;12070130;12032545;11784723;11726633;11706008;11468295;11438984;11387207;11285285;11013215;10970850;10955717;10893422;10806479;10733515;10713718;10704377;10462524;10377409;10036239;9928947;9921900;9748260;9705328;9616160;9501018;9314537;9287351;8892894;8713105;8248180;8162705;8089177;7876308;7579708;2674140;2592436;2591371;1924289;1762625;1382070;1381389;1159819;14739941;15818415;9213396;11684085;15659383;14625392;17353931;10799517;9009265;12387735;22234584;22843905;22291017;22476538;22628548;22685202;15020681;16737952;17159908;17891137;18246799;18788632;18997619;19080005;19088174;19170196;19331807;19550117;19556366;19591839;19597468;19604375;19615732;19625176;19648886;19654214;19692168;19786985;19830727;19890007;19935704;20010876;20036004;20128822;20335315;20379614;20701102;16867268;20363977;19575999;12154370;20679347;20348881;20395446;20569470;18029348;20873751;20558337;20237154;20551903;20552365;20562647;22172411;22415480;20501702;12082080;20811677;20872967;19913121;20628086;20628624;20855527;20711218;18926620;20156804;20585869;21412073;19799816;21550270;21190723;15835821;22863883;22891241;22927432;22939629;22964850;20871163;21282970;21278261;21352885;21625943;21789023;21340023;21444753;21540295;22544491;23209304;21628504;21183682;21712385;20434207;21416469;20360068;21672629;21751142;21818323;21878630;21585339;21864676;21915031;21278069;21780101;22230495;21176563;21899702;21971708;22528947;22898813;18781797;21987572;22192140;22199327;18523284;23031255;23185364;23209815;23214316;23325686;22177047;22360420;20193117;21659656;21874375;22629406;21139048;21693764;21890473;21906983;21465252;21717114;22132106;21837648;16009940;19322201;20859706;21282464;21873785;22137559;22577345;22846990;21849257;21909685;22228328;23017497;23116763;23326330;23324233;19738201;19805454;20195357;21963094;21988832;22751105;23000965;23098471;23422152;17349711;19066282;19639585;22053931;22505724;23067217;22967445;22922800;23039327 7430 E7EQR4;P15311 ABBA01021079;ABBA01021080;AF187552;AF188896;AF188897;AF189213;AF190059;AF199015;AI366687;AK129727;AK296738;AK299456;AK312597;AK316031;AL162086;AL589931;AMYH01016793;AMYH01016794;BC013903;BC068458;CH471051;DA754543;DA783190;J05021;NM_001111077;NM_003379;X51521 AAA61278;AAD56713;AAF03154;AAF03155;AAF03156;AAF03158;AAF09502;AAH13903;AAH68458;ABM83680;ABM86977;BAG35489;BAH12423;BAH13038;BAH14402;CAA35893;CAB82418;EAW47646;EAW47647;NP_001104547;NP_003370;P15311 Hs.487027 1336472;1672170;1675573;1680769;1766031;2116395;2156228;5105771 D15S1323;D6S1614;RH27492;RH46601;RH91385;SHGC-146276;SHGC-149418;SHGC-30156 CVIL;CVL;DKFZp762H157;FLJ26216;MGC1584;VIL2 OTTHUMP00000017506;OTTHUMP00000017507;cytovillin 2;ezrin;p81;villin 2 (ezrin);villin-2 APPROVED protein-coding ENSG00000092820 12691 00475 123900 REVIEWED 1348345 F11R F11 receptor Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008] 1 1 q21.2-q21.3 159232608 159275358 - 160965001 160991133 - 1580863;6480464 10395639;19533747;19395995;19250634;19214165;19176753;19118219;19079583;18514073;18381425;18158589;18096610;18067551;18022613;17822725;17672918;17623668;17452315;16710414;16418218;16344560;16303743;16189514;15977176;15681301;15677455;15489334;15344881;15340161;15065765;14749337;14519386;12975309;12958043;12817473;12810109;12750158;12697893;12665801;12477932;12428104;12234928;12174908;12008956;11812992;11689568;11489913;11447115;11256614;11239401;11230166;11171323;11120739;11087121;10877843;10856295;10852816;10753840;18039951;10698320;7646439;2351647;12953056;15811349;17057644;18849408;19748485;20237496;20378847;20627246;20818426;19913121;20628086;21988832;23110175;22647687;21695058;21703019;22751120;21429211;21139048;21890473;21906983;19322201;22918977;22549289;23128233;22927233;18941231;22886345 50848 B7Z5W1;B7Z941;Q6FIB4;Q9Y624 ABBA01016603;ABBA01016604;AF154005;AF172398;AF207907;AF490407;AK026665;AK075152;AK299487;AK304412;AL136649;AL365518;AL591806;AMYH01001456;AY358896;BC001533;BT020103;CH471121;CQ783224;CQ834196;CQ834198;CR533512;DA907460;NM_016946 AAD43794;AAD48877;AAF22829;AAH01533;AAO84556;AAQ89255;AAV38906;ABM83154;ABM86354;ACE86566;ACE87248;BAC11436;BAH13047;BAH14177;CAB66584;CAF86420;CAG38543;CAH05313;CAH05314;EAW52677;EAW52678;EAW52680;EAW52681;EAW52682;EAW52683;NP_058642;Q9Y624 Hs.517293 1652278;1656364;1721663;1795800;2123901;2136112;2153098;5015619;5022450;5024761;5037552 A006O06;D10S275;D11S3114;D1S3269;D1S3328;D8S2279;F11R_1772;G59842;RH18213;RH36905;SGC34299 CD321;JAM;JAM-1;JAM-A;JAM1;JAMA;JCAM;KAT;PAM-1 OTTHUMP00000027879;OTTHUMP00000027880;OTTHUMP00000027881;junctional adhesion molecule 1;junctional adhesion molecule A;platelet F11 receptor;platelet adhesion molecule 1 APPROVED protein-coding ENSG00000158769 14685 12038 605721 REVIEWED 732286 F13A1 coagulation factor XIII, A1 polypeptide This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] 6 6 p25.3-p24.3 6089310 6265923 - 6144311 6320924 - 1581020;1581021;1581022;1581023;1581026;1581027;1581028;1581032;1581030;734955;1580863;6480464;6907045;7240710 16642548;12958612;12480694;11941274;11692020;9550516;11920201;9920839;11391716;1353995 7913909;7727776;19336370;19190815;19072566;19064572;19061349;19023099;19008959;18974842;18930220;18927546;18848323;18808204;18521512;18378576;18173921;18057060;18028394;18006701;18004208;18000871;17994314;17982641;17975119;17927806;17899444;17895511;17880458;17704111;17691819;17621488;17597187;17582472;17568659;17549290;17516146;17515963;17488662;17476115;19415820;19395327;17433418;14706682;14604285;14593529;12958613;12878486;12861374;12859294;12816904;12757770;12725605;12632025;12542492;12526104;12486862;12477932;12456499;12373334;12100162;12072871;11963567;11961312;11916071;11853093;11841441;11834540;11380452;11372678;11307805;11167856;11154124;11154123;10963790;10958788;10956659;10828988;10391209;10027709;9988734;9763561;9721590;9712293;9546612;9531593;9515726;9469423;8989823;8905624;8797098;8547636;7920263;7918041;2877456;10801785;2866798;2877457;17408468;17393027;17334514;17296595;17288735;17250879;17241179;17230042;17195962;17156138;17111197;17107352;17003923;16988547;16950433;16945500;16938111;16920044;16911684;16882823;16881935;16857944;16844105;16820332;16765424;16763156;16740590;16635210;16567932;16525568;16501286;16456856;16368540;16335952;16330458;16192348;16113789;16102108;15968394;15831156;15692256;15644629;15629368;15618543;15534175;15533380;15489334;15456491;15453833;15387436;15386532;15364237;15350843;15342556;15333035;15219459;15131115;15065858;14870915;7913750;7873582;22329719;22565190;7660355;4811064;3026437;2903011;2901091;2491853;2365049;2184890;2009280;1644910;22434605;21224475;19913121;20532202;20532885;20553949;20628086;20634891;20673868;20680227;14630798;17183677;19422454;19477035;19560472;19572072;19604232;19660184;19691486;19729601;19778283;19783216;19787322;19804366;19826759;19860767;19906129;19923980;19937244;19948975;19958990;19967163;20044141;20051843;20086247;20093496;20113359;20161734;20211923;20227257;20237496;20379614;20384622;20425806;20452482;20609463;20822334;19784898;21116278;20664907;21131589;20941461;22398040;21798378;21939789;20179087;22633530;21640701;21512576;21655673;21658166;21757696;21640452;22156982;23052999;23303819;21548851;21901234;22030394;21900206;21901231;20301327;22234358;23075332;22154241;22931734;22909010;22909824;23381943;22578139;22169303 2162 A6PVK5;H0Y4W5;H0Y796;P00488;Q9NQP5 A03736;AB208852;ABBA01022014;ABBA01022015;ABBA01022016;ABBA01022017;ABBA01022018;AF218234;AF418272;AK130666;AK304335;AK312735;AL133326;AL157775;AL391420;AMYH01016055;AMYH01016056;AMYH01016057;BC027963;BP251770;CH471087;M14354;M14539;M22001;NG_008107;NM_000129 AAA52415;AAA52488;AAA52489;AAF65991;AAH27963;AAL12161;ABM84487;ABM85035;ABW03340;BAD92089;BAG35606;BAG65180;CAA00294;EAW55185;EAW55186;NP_000120;P00488 Hs.335513 1651145;1741297;1771472;1785920;1795802;1848966;2115009;2143899;2151489 D6S1320;D6S1421;D6S2193;F13A1_447;GDB:180362;RH17664;RH36374;SHGC-142412;WI-18963 F13A FSF, A subunit;OTTHUMP00000015990;TGase;bA525O21.1 (coagulation factor XIII, A1 polypeptide);coagulation factor XIII A chain;coagulation factor XIII, A polypeptide;coagulation factor XIIIa;factor XIIIa;fibrin stabilizing factor, A subunit;fibrinoligase;protein-glutamine gamma-glutamyltransferase A chain;transglutaminase A chain;transglutaminase. plasma APPROVED protein-coding ENSG00000124491 3531 00604 134570;188050;608446;613225 REVIEWED 1323246 F13B coagulation factor XIII, B polypeptide This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008] 1 1 q31-q32.1 195274944 195303020 - 197008321 197036397 - 1580863;6480464;6907045;7240710 17691819;2334637;18029348;2866798;14718574;18848323;18652485;18541031;18006701;17702963;2877457;2563250;2491853;2413926;2339067;2271707;1549502;1359667;17515963;16945500;16335952;16241947;15892856;15634282;14702039;12477932;12456499;11816711;11313256;10391209;9531593;9037894;8922891;8905624;8847818;8797098;8756701;8466897;8324218;7873582;3471677;3021194;22329719;19913121;20588308;20628086;20673868;19604232;19646949;19729601;19826759;19937244;19948975;20079358;20237496;20452482;21044367;22704111;22398040;16712791;21640452 2165 P05160 ABBA01027596;AK290560;AL353809;AMYH01001618;AY692223;BX510295;CB157213;CH471067;M14057;M64554;NG_012065;NM_001994;X51823 AAA51821;AAA88042;AAI48334;AAT85802;BAF83249;CAA36123;EAW91269;NP_001985;P05160 Hs.435782 1691836;2146742 AL009648;AL033973 FXIIIB OTTHUMP00000034674;TGase;coagulation factor XIII B chain;fibrin-stabilizing factor B subunit;protein-glutamine gamma-glutamyltransferase B chain;transglutaminase B chain APPROVED protein-coding ENSG00000143278 3534 00605 134580;613235 REVIEWED 735960 F2R coagulation factor II (thrombin) receptor Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. [provided by RefSeq, Jul 2008] 5 5 q13 76047542 76067054 + 76011868 76031595 + 1581033;1581034;1581035;1581036;1302269;728482;1580863;6480464;5490126;6907045 12161502;9168786;1328304;14529396;14705148;12372796;20541575 22593082;1851174;10477691;1672265;9038223;10692450;9701242;9639571;12761501;17848177;7961693;19424642;19404549;19332793;19162217;19080851;19064940;19053259;19040205;18988801;18974842;18832729;18820708;18687805;18682394;18612544;18570113;18537828;18386288;18384756;18372913;18363813;18314110;18308730;18284602;18278202;18179608;18174463;18089851;18064407;18005014;17935246;17895623;17883592;17823308;17721620;17675516;17623652;17492768;17470200;17414212;17384202;17376866;17374729;17373694;17347481;17323377;17303701;17294805;17267663;17015787;16952995;16946713;16839349;16837456;16803467;16709572;16606835;16409451;16407403;16359518;16354660;16354200;16341594;16194864;16141404;16087677;16052512;16021575;15923186;15891109;15878870;15869604;15860737;15821019;15769747;15755869;15707890;15626732;15625067;15582715;15563688;15561975;15559761;15550696;15548541;15522964;15489334;15455382;15383630;15313016;15280447;15247268;15191806;15183114;15099288;15078882;15045135;15023990;14982936;14966279;14961162;14642534;14632180;14623891;14521606;14507634;13680213;12975361;12883880;12832443;12805069;12789289;12737439;12707033;12637343;12594292;12586611;12563219;12534282;12522081;12505789;12477932;12406873;12372769;12370395;12195707;12084570;12058063;12052963;12039967;12023853;11986954;11964083;11907122;11888681;11816709;11278329;10978167;10922491;10644723;10583385;10391209;10079109;9207393;9102146;9058715;8982657;8955127;8824285;8621593;8395910;8395550;8290554;8136362;7834643;1310691;18657231;20404340;19567485;19913121;20506163;20571025;20585578;20628086;20691446;20697725;20368337;15452121;16102047;17706138;18983479;19064814;19307610;19379698;19460777;19538737;19608609;19622587;19679555;19690217;19694963;19703903;19764478;19795418;19858310;19879874;19895674;19907018;19929245;19969492;20056842;20084489;20101173;20164183;20175118;20236938;20237496;21037076;21127289;20140262;20826780;20155436;20442298;20559570;20230207;18577758;20723226;20819545;20482314;21187389;20945373;21149441;21252088;20807173;11447194;17404307;21375587;23113835;22993310;23065128;23155052;21209875;21216163;23580642;23421536;21550978;21673343;21591259;21835828;21536369;21586224;21753781;21965661;21760880;21909684;21993564;22541814;23307185;21822552;22562397;22610965;21605334;21649850;21966428;22106258;22291441;22547407;23436459;22278285;15492257;22659187;22685255;21988832;23000965;22505724;22645275;22833563;22139419;22212092;22952809;22952817 2149 G3XAL6;P25116;Q2TNB2 ABBA01061966;ABBA01061967;AC025188;AF054633;AF391809;AK297131;AK308169;AK314202;AMYH01015419;AY771596;BC002464;BC016059;BC051909;BT007279;CH471084;M62424;NG_032906;NM_001992;S76625;U35634;U63331 AAA36743;AAC25993;AAC50740;AAD14229;AAH02464;AAH51909;AAK69768;AAP35943;AAX11426;ABM86025;ABW03766;BAG59635;EAW95779;EAW95780;EAW95781;NP_001983;P25116 Hs.482562 1655689;1795124;2179192;5037552;5118444 D11S3316;D8S2279;PMC98608P1;STS-N35000;WI-14632 CF2R;HTR;PAR-1;PAR1;TR OTTHUMP00000161974;OTTHUMP00000222020;protease-activated receptor 1;proteinase-activated receptor 1;thrombin receptor APPROVED protein-coding ENSG00000181104 3537 01763 187930 REVIEWED 1353256 F2 coagulation factor II (thrombin) Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. [provided by RefSeq, Jul 2008] 11 11 p11 46697331 46717631 + 46740743 46761056 + 1580340;1580362;1580342;1601108;1580863;1578509;1578508;2313852;2313862;2290183;2313851;5147776;5147767;5147769;5147774;5147766;5147775;5147770;5147777;5147751;5147760;5147764;5147784;5147754;5147779;5147765;5132267;5147755;5147763;5147778;5147753;5147752;5147773;5147782;5147756;5147768;5147772;5147780;5147781;5147783;5147750;5509914;5490126;6480464;6893482;6902907;6893596;6893489;6893575;6893526;6893586;6893593;6893519;6893574;6893577;6893486;6893603;6893520;6893573;6893592;6893628;6484113;6907045;7240710 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8;23415973;23750785;23058370;23204166;22909823;23089051;15174051;21988832;22512572;23282286;23467412;23476015;22984498;20045672;22628232;22990475;23108098;22885990;23029076;23152198 2147 C9JV37;E9PIT3;P00734 ABBA01060732;AC115088;AF478696;AF493953;AJ544114;AJ972449;AK222775;AK222777;AK293326;AK303747;AK312965;AMYH01003536;AY344793;AY344794;BC051332;CB156997;CH471064;CS355181;DB183734;M17262;M33031;NG_008953;NM_000506;S50162;V00595 AAA60220;AAB24476;AAC63054;AAH51332;AAL77436;AAM11680;AAR08142;AAR08143;ACE87074;ACE87755;BAD96495;BAD96497;BAG35804;BAG56844;BAG64719;CAA23842;CAD80258;CAJ01369;CAL24231;EAW67977;EAW67978;EAW67979;NP_000497;P00734 Hs.655207 1644400;1685560;2128536;5020800;5120085;5120087 GDB:196314;GDB:196315;RH17520;RH80273;STS-H75495;STS-W73782 PT;RPRGL2;THPH1 OTTHUMP00000197117;OTTHUMP00000233661;prepro-coagulation factor II;prothrombin;prothrombin B-chain;serine protease APPROVED protein-coding ENSG00000180210 3535 01488 176930;188050;601367;613679;614390 REVIEWED 1346706 F7R coagulation factor VII regulator 3410461;6714981 2156 3545 1348825 F2RL2 coagulation factor II (thrombin) receptor-like 2 This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012] 5 5 q13 75947063 75954996 - 75911307 75919259 - 1580863;6480464;6484113 1851174;10477691;9087410;17474147;18836030;18264801;17376866;17347481;16458856;16046705;15850610;15582715;15504554;15489334;15254234;14515192;14507634;12953056;12805069;12757837;12732212;12692840;12477932;12037136;11714832;11544528;11307827;10788464;10766244;10409227;10079109;9722561;9716134;9639495;9618465;9614115;19913121;20628086;20155436;20442298;16102047;17057644;19379695;19473969;19586901;19806263;8290554;20930172;19513616;19718071;20068591;20390230;20454680;21596928;22541814;23000965 2151 O00254 ABBA01061964;AC026725;AF053124;AF374726;AK298585;AK312848;AL048674;AMYH01015419;BC093648;BC093650;BC095499;BM989640;BX537386;CH471084;DC419029;NM_001256566;NM_004101;U92971 AAC51218;AAH93648;AAH93650;AAH95499;AAK51564;BAG35701;BAG60775;CAD97628;EAW95778;NP_001243495;NP_004092;O00254 Hs.42502 1795806;2176770;5015619 D11S3114;F2RL2_622;STS-N26732 FLJ51933;PAR-3;PAR3 Coagulation factor II receptor-like 2 (protease-actovated receptor 3);OTTHUMP00000128316;PAR-3;protease-activated receptor 3;proteinase-activated receptor 3;proteinase-activated receptor-3;thrombin receptor-like 2 APPROVED protein-coding ENSG00000164220 3539 03561 601919 REVIEWED 733704 F2RL1 coagulation factor II (thrombin) receptor-like 1 Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL1 is also a member of the protease-activated receptor family. It is activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. The F2RL1 gene contains two exons and is widely expressed in human tissues. The predicted protein sequence is 83% identical to the mouse receptor sequence. [provided by RefSeq, Jul 2008] 5 5 q13 76150610 76166896 + 76114833 76131140 + 1580863;735010;4892587;4892586;4892588;4892590;4892589;6480464;6907045 12511586;19766246;21245013;20186875;17727088;19864598 19184329;20740367;7556175;8615752;17991872;17848177;19494303;19368691;19264156;19247167;19242518;12874461;12867500;12832443;12805069;12792776;12754192;12630574;12604689;12540381;12534282;12527925;12506328;12506061;12479889;12477932;12397176;12372769;12370395;12195707;12171601;12139406;12123809;12003791;11907122;11714832;11692107;10978167;10831593;10439226;9639495;9446822;9133675;9020112;8784787;8703006;8601636;7937743;7568091;19144196;19080851;19074826;19064814;19032384;19023130;18983479;18949403;18937843;18854173;18832729;18622013;18482083;18474671;18424071;18308730;18305573;18277946;18196899;18179608;18077203;18047634;18028876;17854923;17845211;17699557;17693410;17675516;17675298;17623652;17591792;17581194;17571167;17470200;17452051;17405913;17384202;17373694;17347265;17328048;17205215;17203209;17203172;16925462;16820307;16714334;16691196;16650817;16525644;16498082;16478888;16476770;16470180;16410250;16359518;16336275;16195539;16096323;16095910;16091786;16079188;16027150;15905579;15882255;15879299;15869604;15843583;15809358;15665002;15654951;15585570;15537383;15492786;15489334;15489220;15482468;15475570;15280447;15140225;15102084;15010475;14767448;14760751;14657869;14585156;14519665;14507634;12925212;20388709;20131076;20530726;20588261;20879045;21281800;19567485;19913121;20628086;21871560;22796577;20412704;15452121;15708858;19263271;19269113;19478484;19536895;19543320;19546160;19558454;19561109;19621073;19631240;19675284;19684015;19694963;19781631;19795460;19815543;19852794;19858310;19881225;19889021;19958818;20124108;20193273;20198321;20224228;20237496;20926011;20826780;19930877;19880163;21068362;16754659;22914544;22916223;21149441;21219331;21152870;23065128;10725339;17500066;21125404;11413129;11441110;11447194;15155775;18453611;19865078;21788507;21296894;21625939;21627585;21700341;21913036;21686228;21839502;22374699;22391066;21576245;22204866;21605334;21905006;21993564;22059396;21890473;21906983;22627362;22505523;22505524;22409427;21513479;21876326;21971685;22140500;22196772;22204707;22394598;22411985;22497886;22294633;22461388;23235155;22960271;23476015;23288842;23170789;23283995;22672593;22940775;22941376;23202369;22613992 2150 D6RJH3;P55085 ABBA01061971;AC010621;AF400075;AMYH01015421;AMYH01015422;AY336105;BC012453;BC018130;BT009856;CH471084;DB463838;GM732522;NM_005242;U34038;U36753;U67058;Z49993;Z49994 AAA90957;AAB47871;AAH12453;AAH18130;AAK77914;AAP88858;AAP97012;ABM81892;ABM85065;CAA90290;CAV28807;EAW95782;NP_005233;P55085 Hs.744181 1792144;1795804;1848011;5109281 D1S1425;F2RL1_620;PMC137545P1;RH18037 GPR11;PAR2 G protein-coupled receptor-11;G-protein coupled receptor 11;OTTHUMP00000128315;PAR-2;coagulation factor II receptor-like 1;protease-activated receptor 2;proteinase-activated receptor 2;proteinase-activated receptor-2;proteinase-activated receptor-2, g protein-coupled receptor 11;thrombin receptor-like 1 APPROVED protein-coding ENSG00000164251 3538 02960 600933 VALIDATED 1346624 F8A2 coagulation factor VIII-associated 2 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] X X q28 154264958 154266073 + 154611764 154612879 + 15687285;8528212 474383 P23610 ABBA01029147;AC234781;AMYH01023321;AY620000;BC039693;BC071963;BX682237;CH471172;NM_001007523 AAH39693;AAH71963;AAI72273;AAT44607;EAW72648;NP_001007524;P23610 Hs.731793 F8A1;F8A3 OTTHUMP00000032191;coagulation factor VIII-associated (intronic transcript) 2;cpG island protein;factor VIII intron 22 protein APPROVED protein-coding 31849 18665 REVIEWED 1351365 F2RL3 coagulation factor II (thrombin) receptor-like 3 Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL3 is also a member of the protease-activated receptor family. F2RL3 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL3 is activated by thrombin and trypsin. [provided by RefSeq, Jul 2008] 19 19 p12 16860826 16863830 + 16999826 17002830 + 1580863;6480464 1851174;10477691;10500152;9618465;10702240;19528350;19058300;19053259;18682394;18480058;18427961;18179608;17373694;17323377;16952995;16837456;15489334;15203717;15099288;15078882;15045135;14973136;14521606;13678420;12888878;12871418;12732212;12477932;12008957;12006403;11907122;11714832;10766244;10079109;9722561;9716134;22228373;22511653;23307185;20561531;8982657;20230207;20930172;20155436;19913121;20628086;16102047;19437337;19667088;20175118;8290554;21164077;20807173;21127289;21391917;21635966;21461878;21649850;22411985;22318735;22151913 9002 M0R0Y0;Q96RI0 ABBA01051173;ABBA01051174;AC008737;AF055917;AF080214;AF384819;AMYH01009566;AY431102;BC074782;CH471106;NG_032894;NM_003950 AAC25699;AAC28860;AAH74782;AAK61908;AAR08487;EAW84566;NP_003941;Q96RI0 Hs.137574 1793454;1793532;1795126;5015404;5021396;5492647 GDB:313783;L17705;PMC22580P1;PMC22903P1;PMC98608P2;UniSTS:481901 PAR4 PAR-4;coagulation factor II receptor-like 3;protease-activated receptor-4;proteinase-activated receptor 4;proteinase-activated receptor-4;thrombin receptor-like 3 APPROVED protein-coding 3540 04148 602779 REVIEWED 1349354 F8A3 coagulation factor VIII-associated 3 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] X X q28 154340340 154341455 - 154687146 154688261 - 6480464 11256614;15687285;8528212 474384 P23610 AY620001;BC039693;BC071963;BX276110;BX571846;CH471172;NM_001007524 AAH39693;AAH71963;AAI56293;AAT44608;EAW72648;NP_001007525;P23610 Hs.533543;Hs.731793 5091630;5112587;5123801 DXS522E;RH171;WI-12360 F8A1;F8A2 OTTHUMP00000032188;coagulation factor VIII-associated (intronic transcript) 3;cpG island protein;factor VIII intron 22 protein APPROVED protein-coding 31850 18666 REVIEWED 1318772 FA2H fatty acid 2-hydroxylase This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010] 16 16 q23 73304359 73366224 - 74746853 74808729 - 737633;6480464;7240710 12477932 15337768;22704260;19068277;17355976;16713569;18463364;20104589;16344560;19834535;19844255;20379614;21599921;21592092;21735565;22925154 79152 B7Z8T6;H3BP32;J3QS89;Q7L5A8 AA857184;ABBA01058108;AC004685;AC009132;AJ278219;AK058016;AK303878;AK315512;AMYH01007812;BC002679;BC004263;BC010453;BC017049;CH471114;DA890369;NG_017070;NM_024306 AAC23496;AAH02679;AAH04263;AAH17049;BAB71632;BAG37893;BAH14072;CAC20436;EAW95677;EAW95678;NP_077282;Q7L5A8 Hs.461329 1674954;1684592;1730137;2115984 D16S2953;D16S430E;RH65017;SHGC-8141 FAAH;FAH1;FAXDC1;FLJ25287;SCS7;SPG35 OTTHUMP00000174940;fatty acid 2-hydroxylase;fatty acid alpha-hydroxylase;fatty acid hydroxylase domain containing 1;spastic paraplegia 35 (autosomal recessive) APPROVED protein-coding ENSG00000103089 21197 16873 611026;612319 REVIEWED 737354 F3 coagulation factor III (thromboplastin, tissue factor) This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 1 1 p22-p21 94767461 94779903 - 94994732 95007413 - 1300308;1580863;1300309;2313861;2313865;2312381;2313859;2313863;2313868;2313869;2313862;6480464;5147765;6907045 12579195;9192667;16371118;12417540;17785358;17969370;15004866;9285207;9212353;15990447;21396682 20978007;22238593;17898544;17469850;3455766;18612547;7598447;17991872;2704749;19065458;3037536;2271516;3527261;8598903;10896200;19424642;19356953;19276228;19249541;19234141;19219655;19168442;19167313;19149969;19132232;19095643;19056482;19027114;19012190;19002040;18989544;18983524;18983503;18983492;18983479;18848323;18835104;18802362;18677291;18665928;18665396;18645927;18641355;18495150;18490736;18449421;18363812;18315555;18310227;18308368;18297283;18292391;18284603;18278454;18278195;18217146;18180609;18091328;18031796;18029910;18023707;18019946;18005233;18000605;17982314;17977694;17947506;17938822;17922809;17920661;17901245;17900273;17883595;17883594;17852460;17848177;17726162;17724132;17721619;17675290;17663729;17598015;17597988;17586694;17577783;17549302;17536017;17483700;18327399;17470200;17469034;17459125;17401435;17384202;17347408;17334638;17331567;17324918;17323935;17314141;17237436;17234207;17200764;17200762;17200119;17196206;17157899;17137581;17066404;17060476;17008590;16959886;16949034;16937466;16930953;16894464;16839353;16835245;16820938;16794185;16710414;16697385;16634740;16531802;16529959;16516912;16510984;16507316;16493499;16490369;16488980;16473535;16453151;16363246;16344560;16341674;16324758;16239598;16236262;16217771;16215234;16182846;16113838;16113798;16020745;15996056;15935832;15905465;15892865;12356487;12353085;12270558;12192302;12189027;12172458;12152682;12152652;12149215;12095134;12083501;12083487;12070020;12036889;12028585;12019261;12008961;11994566;11973337;11943929;11929768;11921018;11882315;11876644;11858480;11858185;11858183;11816709;11816707;11776298;11744662;11601848;11583305;11307801;10856975;9925787;9490735;9490681;9480775;8889548;8702971;8609606;8086403;7615158;4023720;3424286;3399965;3297348;3166978;2823875;2719931;2719077;2315317;1740409;392457;15869604;15865421;15860742;15842359;15835921;15814630;15630487;15604222;15562024;15494427;15489334;15467908;15328160;15304041;15252050;15242552;15213854;15213840;15161741;15154603;15117736;15041276;15034796;15034795;15016732;14961150;14756558;14750502;14738565;14678810;14675093;14675092;14610342;14597990;12941032;12920028;12903530;12883669;12871349;12787023;12654807;12652293;12603864;12544727;12540946;12529356;12514112;12477932;12426405;12408769;23029190;23223577;21310953;21160057;21248061;20810696;19428056;20388709;19492160;19913121;20628086;20673868;20688968;20138335;20149415;20149924;20153879;20156644;20163832;20171716;20189224;20933205;19483295;15182581;17939398;18508060;18642055;19091315;19105796;19167713;19290852;19350119;19359592;19500510;19515372;19541671;19545871;19558505;19561489;19572083;19578796;19583819;19592470;19597299;19604541;19628788;19631649;19661141;19750223;19795460;19806259;19817993;19828697;19843576;19861441;19904262;19914247;19923558;19958818;19966052;20061396;20062929;20103969;20113254;20133705;20142117;20185792;20227257;20237315;20237496;20452482;18846330;20601186;20930172;21037076;20140262;20589316;20628259;20605795;20224254;20434002;20434004;20434015;22461171;19856410;20150920;20553947;20616308;19995406;19880163;20656331;20708219;21091668;20338779;20546120;21464728;21042291;21186047;21236471;19954621;21488215;21500176;20524980;21149441;20708733;21059650;19829668;20034913;21182229;21245964;21502573;21404058;19698254;20846886;22196362;22784289;23152142;22828416;23029002;23065128;23118232;23373413;22066736;19099647;21474669;21531894;20451919;21367569;21617868;21344386;21483174;22771387;23038262;22683021;21129276;21293108;21592524;21543928;21619686;21652710;19203804;21467727;21694469;21535396;21605334;21987572;22022598;21693061;21625939;21518473;21800004;21621407;21868706;22547577;21458031;21737126;21906983;19322201;20830515;22340074;22437887;22076613;22119392;22178066;21762960;21934552;22115773;22156911;22187432;22214850;22237453;22964479;22705067;23434438;21963094;23000965;23007470;23325480;23381943;22099707;22682123;22682138;22672593;21690060 2152 P13726;Q8NCW7 A19048;ABBA01045508;AC093117;AF487337;AF497569;AF497570;AF497571;AF540377;AK310918;AK312638;AMYH01000808;AY940729;AY940730;AY940731;BC011029;BM769013;BM981095;BT019808;CH471097;CR541792;DB203987;DB499288;J02846;J02931;M16553;M27436;NG_029366;NM_001178096;NM_001993;X07680 AAA36734;AAA61150;AAA61151;AAA61152;AAH11029;AAN01236;AAO61150;AAO61151;AAO61152;AAO61153;AAV38611;ABM83681;BAG35522;CAA01438;CAA30527;CAG46591;EAW73043;EAW73044;EAW73045;NP_001171567;NP_001984;P13726 Hs.62192 1744961;1773864;1794410;1797516;2166580 F3_45.3;GDB:583385;PMC311069P5;SHGC-31493;SHGC-75172 CD142;FLJ17960;TF;TFA OTTHUMP00000012426;OTTHUMP00000012427;coagulation factor 3;thromboplastin;tissue factor APPROVED protein-coding ENSG00000117525 3541 00603 134390 REVIEWED 1343567 F8 coagulation factor VIII, procoagulant component This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] X X q28 153717260 153904192 - 154064063 154250998 - 1582359;1582371;1582360;1582357;1580863;2290183;2312416;6480464;6907045;7240710 15634269;7721754;15202164;16786531;10048754;7974333 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32;stSG604333;stSG604334;stSG604336;stSG604337;stSG604339;stSG604340;stSG604341;stSG604342;stSG604343;stSG604346;stSG604347;stSG604348;stSG604349;stSG604350;stSG604351;stSG604352;stSG604353;stSG604355;stSG604356;stSG604357;stSG604358;stSG604359;stSG604360;stSG604361;stSG604362;stSG604363;stSG604364;stSG604365;stSG604366;stSG604367;stSG604368;stSG604369;stSG604370;stSG604371;stSG604372;stSG604373;stSG604374;stSG604375;stSG604376;stSG604377;stSG604378;stSG604379;stSG604380;stSG604382;stSG604383;stSG604384;stSG604385;stSG604386;stSG604388;stSG604389;stSG604390;stSG604391;stSG604393;stSG604394;stSG604395;stSG604396;stSG604397;stSG604398;stSG604399;stSG604400;stSG604401;stSG604402;stSG604403;stSG604404;stSG604405 AHF;DXS1253E;F8B;F8C;FVIII;HEMA OTTHUMP00000024269;OTTHUMP00000196174;antihemophilic factor;coagulation factor VIII;coagulation factor VIIIc;factor VIII F8B APPROVED protein-coding ENSG00000185010 3546 02384 300841;306700 REVIEWED 1344593 F5 coagulation factor V (proaccelerin, labile factor) This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] 1 1 q23 167747816 167822393 - 169481192 169555769 - 1580361;1580362;1580372;1580373;1580130;1580340;1580863;2313874;2290183;4892656;4892673;4892622;4892657;4892669;6480464;6902907;6893596;6893522;6893594;6893601;6893627;2313876;6893602;6893628;6907045;7240710 15026880;12928685;15147718;15257017;14706682;11471205;16911011;10048754;16186475;19524925;16235188;14996674;20182352;16968732;21955693;19520684;22527293;9293873;16549134;16760910;22707612;16246971 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2153 B4DU26;P12259 ABBA01027950;AF119360;AF285083;AJ297254;AJ297255;AK226079;AK291613;AK300469;AMYH01001488;AMYH01001489;AU279657;AY046060;AY136818;AY364535;CA395604;CB164139;CH471067;DB182033;DQ019941;DQ349066;DQ357212;DQ357213;DQ357214;DQ377944;L32755;L32779;M14335;M16967;M94010;NG_011806;NM_000130;Z99572 AAA52416;AAA52424;AAB59401;AAB59532;AAF32515;AAG30113;AAI11462;AAI11589;AAI11930;AAL09164;AAN12307;AAQ55063;AAY85741;ABC75245;ABC96776;ABC96777;ABC96778;ABD23003;BAF84302;BAG62188;CAC82572;CAC82573;EAW90849;NP_000121;P12259 Hs.30054 1645118;1770157;1773374;1795026;1795028;2141364;2148953;5093990;5126047;5491356 A010A11;AL009384;F5-667F;G33041;PMC87879P1;PMC87879P2;RH11068;RH70793;SGC32933;SHGC-34799 FVL;PCCF;RPRGL1;THPH2 OTTHUMP00000032547;OTTHUMP00000032548;activated protein c cofactor;coagulation factor V;coagulation factor V jinjiang A2 domain;factor V Leiden;proaccelerin, labile factor APPROVED protein-coding 3542 01964 188055;227400;600880;601367;612309;614389 REVIEWED 1346124 FABP10 fatty acid binding protein 10 337952 AF254642 17323 1345586 F7 coagulation factor VII (serum prothrombin conversion accelerator) This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 13 13 q34 112808106 112822996 + 113760102 113774995 + 1580374;1580375;1580376;1580863;1601133;2312384;2312386;2312388;2312389;2312391;2312392;2312395;2312398;2312402;2312406;2312408;2290183;2312385;2312312;2312322;1625710;2312390;2312393;2312394;2312400;2312380;2312409;2312299;2312379;1304286;2312399;2312323;2312313;2312315;2312401;2312320;2312300;2312403;2312296;2312318;2312381;2312382;2312383;1598920;2312396;2312397;2312404;2312407;2312410;2312412;2312413;2312414;6480464;6907045;7240710 16116695;15842378;12356487;1634227;11297753;11137328;10332679;9686915;15258325;2716922;14513073;10837382;10450539;9187410;8522401;10048754;11146704;17660074;989968;16739871;15608477;10910004;14614217;10599031;18000605;7495060;19357351;19329212;14724430;10653827;812575;16779662;15204765;10468085;3660344;11776312;9569183;12586334;2810399;17785358;11689270;15860378;10899350;11474472;11334615;9258277;8250495;8458188;8123879;3240844;509177 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2155 B4DPM2;E9PH36;F5H8B0;P08709 ABBA01019860;ABBA01019861;AF466933;AI076552;AK298404;AK310779;AK311565;AK311682;AL137002;AMYH01005394;AMYH01005395;AMYH01005396;AY212252;AY423856;BC130468;CB156039;CH471085;CS355169;DB184045;DQ142911;EF421855;EF445049;EU557239;J02933;M13232;NG_009262;NM_000131;NM_001267554;NM_019616;NR_051961;U14580;U40852 AAA51983;AAA88040;AAA88041;AAC50211;AAI30469;AAL66184;AAP33841;AAQ94106;ABD17891;ABN79862;ACA06107;ACA06108;ACB87203;ADR83168;BAG60634;CAL24227;EAX09182;EAX09183;NP_000122;NP_001254483;NP_062562;P08709 Hs.36989 1741335;1741641;1741715;1742355;1742857;1793098;1795808;1798564;1800114;1800666;1804634;1805892;1805970;1806430;1806978;1812400;1824044;1824352;1825294;1825464;1839868;1844168;1895232;1895234;1895236;1895238;1895240;1895242;1895244;1895246;1895248;1895250;1895252;1895254;1895256;1895258;1895260;1895262;1895264;1895266;1895268;1895270;1895272;1895274;1895276;1895278;1895280;1895282;1895284;1895286;1895288;1895290;1895292;1895294;1895296;1895298;1895300;1895302;1895304;1895306;1895308;1895310;1895312;1895314;1895316;1895318;1895320;1895322;1895324;1895326;1895328;1895330;1895332;1895334;1895336;1895338;1895340;1895342;1895344;1895346;2130338;2137182;2202496;2202498;2202500;2202502;2202504;2202506;2202508;2202510 ECD00121;ECD00913;ECD01194;ECD03249;ECD03899;ECD03938;ECD04171;ECD04454;ECD07207;ECD13118;ECD13274;ECD13753;ECD13839;ECD21117;ECD23297;F7_624;G15852;GDB:180725;GDB:181603;GDB:182330;GDB:196470;GDB:210952;PMC196491P1;REN18399;REN18400;REN18401;REN18402;REN18403;REN18404;REN18405;REN18406;REN18407;REN18408;REN18409;REN18410;REN18411;REN18412;REN18413;REN18414;REN18415;REN18416;REN18417;REN18418;REN18419;REN18420;REN18421;REN18422;REN18423;REN18424;REN18425;REN18426;REN18427;REN18428;REN18429;REN18430;REN18431;REN18432;REN18433;REN18434;REN18435;REN18436;REN18437;REN18438;REN18439;REN18440;REN18441;REN18442;REN18445;REN18446;REN18447;REN18448;REN18449;REN18450;REN18451;REN18452;REN18453;REN18454;REN18455;REN18456;REN18457;REN18458;RH44950;stSG621972;stSG621973;stSG621980;stSG621981;stSG621982;stSG621983;stSG621984;stSG621985 SPCA FVII coagulation protein;OTTHUMP00000018733;OTTHUMP00000018734;SPCA;coagulation factor VII;eptacog alfa;proconvertin;serum prothrombin conversion accelerator APPROVED protein-coding ENSG00000057593 3544 01965 227500;608446;613878 REVIEWED 1342562 F8A1 coagulation factor VIII-associated 1 This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] X X X q28 154273254 154274955 + 153767829 153769530 + 154114635 154116336 + 6480464 18419747;18299331;16513639;16482509;16381901;15687285;15489336;15489334;15009463;12477932;11256614;11076863;11035034;8528212;2110545;1639415;1427887;19913121;20628086;15123239;23521092;19139273 8263 P23610 AL556125;AY619999;BC039693;BC071963;BX842559;CH471172;M34677;NG_011403;NM_012151;X86012 AAA35713;AAH39693;AAH71963;AAT44606;ABM87666;CAL38350;CAL38611;EAW72648;NP_036283;P23610 Hs.533543 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DXS522E;F8A;F8A2;F8A3;HAP40 OTTHUMP00000015439;coagulation factor VIII-associated (intronic transcript) 1;cpG island protein;factor VIII associated protein;factor VIII intron 22 protein;huntingtin-associated protein 40 APPROVED protein-coding ENSG00000197932 3547 02374 305423 REVIEWED 735620 F9 coagulation factor IX This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008] X X q27.1-q27.2 138440561 138473283 + 138612895 138645617 + 1300357;1580376;1300310;1580863;2290183;2312416;6480464;6907045;7240710 1631121;12356487;9326649;10048754;7974333 2714791;19286883;19262239;19158249;19047063;18647957;18624698;18600094;18459950;18449417;18434706;18393396;18293119;18192270;18179572;18029348;17985356;17882724;17563121;17414217;17397055;17308903;17230038;17048007;17014892;16939230;16839351;16766524;16517611;16322469;16102111;15921378;15913649;15866866;15842381;15829482;15772651;15643612;15634274;15590401;15581349;15489334;15456490;15383460;15328360;15326167;15219198;15183040;15039440;15009460;14963035;14722079;14660587;14629468;14567539;14532267;14521595;12871503;12871416;12824704;12768436;12604421;12588353;12570162;12522212;12522143;12513796;12496253;12477932;12192300;12167623;12152682;12105230;12070021;12036878;11925427;11891231;11830468;11754413;11754103;11736930;11583320;11396323;11278963;11133752;11122405;11122099;10698280;10467148;10391209;10094553;9834200;9655178;9600455;9590153;9222764;9047312;8855310;8833911;8680410;8663165;8392713;8295821;8257988;8236150;8199596;8172892;8076946;7987222;7981722;7713897;7606779;7547952;6959130;6688526;6687940;6603618;6425296;6329734;6320191;6287289;6089357;3857619;3790720;3416069;3401602;3340835;3243764;3009023;2994716;2875754;2775660;2773937;2753873;2743975;2738071;2472424;7598447;8626656;14718574;2110473;19416882;19404534;19357501;2713493;2592373;2511201;2372509;2352926;2339358;2248955;2162822;2129367;2040636;1958666;1902289;1854745;1634040;1615485;1517205;1346975;1304885;922557;659613;237463;22544209;22870602;20695909;19913121;20628086;19930472;19617576;19656280;19699296;19817987;20128871;20346360;20004170;20539913;20628058;22618954;20301668;20885981;21305775;22961984;23093250;22057218;23580639;21976659;22639855;23014580;22207756;22281721;22471307;23054460;22212890;23530052 2158 P00740;Q5FBE1 A01819;A07407;A13997;A14017;AB186358;ABBA01066041;ABBA01066042;ABBA01066043;ABBA01066044;ABBA01066045;ABBA01066046;AF486577;AF536327;AK292749;AL033403;AL645665;AMYH01023058;AY226143;AY269424;AY269425;BC109214;BC109215;CH471150;CS355175;DQ431774;DQ431775;DQ431776;DQ431777;DQ431778;DQ431779;DQ431780;DQ431781;DQ431782;DQ431783;DQ431784;DQ431785;DQ431786;DQ431787;DQ431788;DQ431789;DQ431790;DQ431791;DQ431792;DQ431793;DQ431795;DQ431796;DQ431797;DQ431798;DQ431801;DQ431802;DQ431803;DQ431804;DQ431805;DQ431806;DQ431807;DQ431808;DQ431809;DQ431810;DQ431811;DQ431812;DQ431813;DQ431814;DQ431815;DQ431816;DQ431817;DQ431818;DQ431819;DQ431820;DQ431821;DQ431822;DQ431823;DQ431824;DQ431825;DQ431826;DQ431827;DQ431828;DQ431829;DQ431830;DQ431831;DQ431832;DQ431833;DQ431834;DQ431835;DQ431836;DQ431837;DQ431838;DQ431839;DQ431840;FR846238;FR846239;FR846240;J00136;J00137;K02053;K02402;M11309;M19063;M35672;NG_007994;NM_000133;S66752;S68634;X55008 AAA51981;AAA52023;AAA52456;AAA52763;AAA56822;AAA98726;AAB28588;AAB29758;AAB59620;AAI09215;AAI09216;AAI46407;AAM96188;AAO73937;AAP34372;AAP34373;ABF68963;ABF68964;ABF68965;ABF68966;ABF68967;ABF68968;ABF68969;ABF68970;ABF68971;ABF68972;ABF68973;ABF68974;ABF68975;ABF68976;ABF68977;ABF68978;ABF68979;ABF68980;ABF68981;ABF68982;ABF68984;ABF68985;ABF68986;ABF68987;ABF68990;ABF68991;ABF68992;ABF68993;ABF68994;ABF68995;ABF68996;ABF68997;ABF68998;ABF68999;ABF69000;ABF69001;ABF69002;ABF69003;ABF69004;ABF69005;ABF69006;ABF69007;ABF69008;ABF69009;ABF69010;ABF69011;ABF69012;ABF69013;ABF69014;ABF69015;ABF69016;ABF69017;ABF69018;ABF69019;ABF69020;ABF69021;ABF69022;ABF69023;ABF69024;ABF69025;ABF69026;ABF69027;ABF69028;ABF69029;BAD89383;BAF85438;CAA00205;CAA00665;CAA01140;CAA01141;CAB38245;CAL24229;CCA61110;CCA61111;CCA61112;EAW88431;EAW88432;EAW88433;EAW88434;NP_000124;P00740 Hs.522798 1702422;1741069;1741101;1741133;1741215;1741659;1741673;1741689;1741691;1741693;1742455;1742457;1743203;1748055;1748057;1748059;1795810;1855608;1857473;2164003;2190861 F9;F9_627;G10618;G28615;G66627;G66628;G66629;GDB:177588;GDB:177796;GDB:177926;GDB:178640;GDB:181635;GDB:181846;GDB:182120;GDB:182121;GDB:182122;GDB:192503;GDB:197038;GDB:197039;GDB:303850;RH17659 FIX;HEMB;MGC129641;MGC129642;P19;PTC;THPH8 Christmas factor;F9 p22;FIX F9;OTTHUMP00000024154;coagulation factor 9;coagulation factor IX;coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B);factor 9;factor IX F9;plasma thromboplastic component;plasma thromboplastin component;serine protease APPROVED protein-coding ENSG00000101981 3551 02385 122700;300746;300807;306900 REVIEWED 1346986 FABP3P2 fatty acid binding protein 3, pseudogene 2 13 13 13 q13-q14 24000996 24001639 - 41841250 41841893 - 42943250 42943893 - 9256083 56677 ABBA01021255;AL136527;AL138703;AMYH01005072;NG_001286;U72237 FABP3-ps;FABP3P pseudo 3558 INFERRED 2302158 FABP12 fatty acid binding protein 12 8 8 8 q21.13 78442243 78448512 - 82599836 82606105 - 82437281 82443550 - 6480464 18786628;16421571;12477932;22589738;23535730 646486 A6NFH5;H0YAS1 ABBA01004052;AC023644;AMYH01018830;AX785165;AX785168;BC146973;BC146981;CH471068;EU733650;NM_001105281 A6NFH5;AAI46974;AAI46982;ACI03640;CAE11956;CAE11957;EAW87093;NP_001098751 Hs.586370 1664067;2153074 AFMa126zg5;D8S2056 OTTHUMP00000227202;Probable fatty acid-binding protein ENSP00000353650;fatty acid binding protein ORF;fatty acid-binding protein 12;intracellular fatty acid-binding protein FABP12 protein-coding 34524 PROVISIONAL 737052 FAAH fatty acid amide hydrolase This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008] 1 1 p35-p34 46632575 46652104 + 46859939 46879520 + 1625726;1300311;1625741;1580863;6480464;7240710 15809662;12060782;16972078 17449448;17290447;17216208;17065342;16710414;15721218;15489334;15254019;15219977;14657172;12799380;12665801;12556536;12477932;12153574;12008024;11818522;11390466;11352748;10806398;10788462;10036136;9878243;9871570;9822713;9790682;17553686;10431820;9122178;19193342;19165169;19103437;19095868;19086053;19053981;19014633;19002671;18819056;18805581;18705688;18566995;18497731;18493729;18295974;18068305;17991615;17962356;17712725;17621164;19913121;20015515;20102775;20628086;20631561;20716455;19419760;19659925;19801960;19859057;19874574;19890266;19958092;20010552;20010914;20044928;20054193;20056290;20065978;20080186;20098695;20099163;20189896;18029348;20976246;21037510;20369362;20808855;20870184;22609216;21118518;21519771;17342744;22826533;21477106;22035053;22068813;21442624;22442717;21930339;22701012;23211960;22776995;23372171;23122699;22827915;22832737 2166 O00519;Q9UG55 ABBA01050837;ABBA01050838;ABBA01050839;AF098019;AL050372;AL122001;AMYH01000587;AMYH01000588;AY842444;BC034478;BC093632;BC110404;BC111941;BG718115;NG_012195;NM_001441;U82535 AAB58505;AAD13768;AAH93632;AAI10405;AAI11942;AAV88095;CAB62530;NP_001432;O00519 Hs.720143 1663387;5017504;5491617 FAAH;MARC_26106-26107:1032553127:3;SHGC-74781 FAAH-1;MGC102823;MGC138146 OTTHUMP00000009480;anandamide amidohydrolase 1;fatty-acid amide hydrolase 1;oleamide hydrolase 1 APPROVED protein-coding ENSG00000117480 3553 04244 602935;612319 REVIEWED 1352996 FABP5P1 fatty acid binding protein 5 pseudogene 1 13 13 13 q22.1 54573011 54573669 - 72572482 72573184 - 73674501 73675183 - 387934 ABBA01050342;AL354720;AMYH01005202;NG_006997 FABP5;FABP5L1 APPROVED pseudo 31059 INFERRED 2301483 FABP5P10 fatty acid binding protein 5 pseudogene 10 2 2 2 q23.3 145656989 145657619 + 151741977 151751355 + 152042675 152043307 + 9847074 344332 ABBA01004763;AC018731;AMYH01011168;NG_008710 FABP5L10 APPROVED pseudo 31066 INFERRED 1344672 FABP5P11 fatty acid binding protein 5 pseudogene 11 22 22 22 q11 697914 698577 - 15455661 15456524 - 17075761 17076438 - 266699 ABBA01001467;AMYH01012420;AP000547;NG_002376 FABP5L11;FABP5P1 APPROVED pseudo 19328 INFERRED 736881 FABP1 fatty acid binding protein 1, liver This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011] 2 2 p11 88203625 88208693 - 88422501 88427650 - 1580863;1626441;1626440;6480464 15830271;17058218 9250612;19435794;19330863;19217864;19019918;18838948;18660489;18506375;18094680;17826730;17698986;17605029;17526850;17485234;17428383;17003471;16945373;16772708;16249547;16175609;15547295;15489334;22525507;22465531;22640736;21757748;15308127;15249972;14563446;12646418;12477932;12121132;11461829;11354243;11226238;10684629;9688651;9070383;8232272;7784447;3838313;3838309;3012800;2824476;1699834;21356355;19913121;20550918;20628086;19441025;19499240;19622156;20416077;20185732;20575163;21153750;15342556;7566098;20721681;22515481;21996226;21504508;21856370;22396741;18624398;21767383;23144966;23349979;15123239;23167703;23291381 2168 A8MW49;P07148;Q05CP7;Q6FGL7 AA345359;ABBA01018805;AC092836;AMYH01010628;BC022287;BC032801;BP263155;CH471215;CR542090;M10050;M10617;NM_001443 AAA52418;AAA52419;AAH22287;AAH32801;AAX88905;CAG46887;EAW77075;EAW77076;NP_001434;P07148 Hs.380135 2187140;5119761 GDB:181268;RH70351 FABPL;L-FABP OTTHUMP00000160828;OTTHUMP00000160829;fatty acid binding protein 1;fatty acid-binding protein 1;fatty acid-binding protein, liver;liver-type fatty acid-binding protein APPROVED protein-coding ENSG00000163586 3555 00612 134650 REVIEWED 1603557 FAAH2 fatty acid amide hydrolase 2 This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate.[provided by RefSeq, Sep 2009] X X X p11.21 61167536 61369777 + 57329864 57532351 + 57313110 57515629 + 6480464 19095868;17015445;16344560;14702039;12477932;19926788;21832049 158584 B2C6G4;Q6GMR7 ABBA01069316;ABBA01069317;ABBA01069318;ABBA01069319;ABBA01069320;ABBA01069321;ABBA01069322;ABBA01069323;ABBA01069324;ABBA01069325;ABBA01069326;ABBA01069327;ABBA01069328;ABBA01069329;ABBA01069330;ABBA01069331;ABBA01069332;ABBA01069333;ABBA01069334;ABBA01069335;ABBA01069336;ABBA01069337;ABBA01069338;ABBA01069339;ABBA01069340;AF086253;AK055766;AL590394;AL606754;AL928898;AMYH01022462;BC048279;BC073922;BX110322;CH471154;DA392815;EU285560;NG_013232;NM_174912;Z83745 AAH48279;AAH73922;ABZ79724;BAB71007;EAW93245;NP_777572;Q6GMR7 Hs.496205 1787286;2140843;2178368 DXS9705;SHGC-145248;SHGC-57792 AMDD;FAAH-2;FLJ31204;RP11-479E16;RP11-479E16.1 OTTHUMP00000023420;amidase domain containing;amidase domain-containing protein;anandamide amidohydrolase 2;fatty-acid amide hydrolase 2;oleamide hydrolase 2 APPROVED protein-coding ENSG00000165591 26440 06551 300654 REVIEWED 6481423 FABP5P14 fatty acid binding protein 5 pseudogene 14 2 217670246 217670715 - 100873957 ABBA01062825;AC007563;AMYH01011492;NG_032190 FABP5L14 pseudo 31065 INFERRED 6481425 FABP5P15 fatty acid binding protein 5 pseudogene 15 X 76983322 76983890 + 100873958 ABBA01029621;ABBA01029622;AC233293;AMYH01022629;NG_032191;Z84487 FABP5L15 pseudo 31071 INFERRED 2303313 FABP5P12 fatty acid binding protein 5 pseudogene 12 4 4 4 q32.1 157288339 157288938 + 159947269 159947868 + 159947213 159947876 + 9847074 100270673 ABBA01070215;AC093700;AMYH01014647;NG_009509 FABP5L12 APPROVED pseudo 31067 INFERRED 1349159 FABP5P5 fatty acid binding protein 5 pseudogene 5 5 q15 95308671 95309158 - 100288964 ABBA01069245;AC008592;AMYH01015490;NG_027896 FABP5L5 APPROVED pseudo 31068 INFERRED 1346394 FABP5P4 fatty acid binding protein 5 pseudogene 4 13 q31.3 92832755 92833138 - 404766 ABBA01027227;AL163537;AMYH01005291;NG_027928 FABP5L4 APPROVED pseudo 31061 INFERRED 1347750 FABP5P3 fatty acid binding protein 5 pseudogene 3 7 7 7 q36.1 146691148 146697267 + 151764913 151771034 + 152133980 152140101 + 12853948 220832 A8MUU1 ABBA01035132;AC005631;AMYH01018150;BX338084;NR_002935 A8MUU1 Hs.647108 FABP5L3 fatty acid binding protein 5-like 3 APPROVED pseudo ENSG00000241735 22573 PROVISIONAL 1345237 FABP5P2 fatty acid binding protein 5 pseudogene 2 13 13 13 q14.3 33589471 33590114 + 51438821 51439498 + 52540833 52541476 + 729163 ABBA01051052;AL138821;NG_008806;NG_009322 1744579 GDB:533050 FABP5L2 APPROVED pseudo 31060 INFERRED 1353302 FABP5P6 fatty acid binding protein 5 pseudogene 6 5 5 5 q23.1 114844675 114845085 - 118918842 118919252 - 118890943 118891353 - 100130687 ABBA01068976;AC010409;AMYH01015576;NG_008825 FABP5L6 APPROVED pseudo 31069 INFERRED 2301269 FABP5P8 fatty acid binding protein 5 pseudogene 8 15 15 15 q25.2 60872909 60873554 - 81504124 81504552 + 83713074 83713719 + 728729 ABBA01029433;AC024270;AMYH01006858;NG_009324 FABP5L8 APPROVED pseudo 31063 INFERRED 2298929 FABP5P9 fatty acid binding protein 5 pseudogene 9 15 15 15 q25.3 62358372 62359032 + 83759408 83760087 + 85958398 85959083 + 642956 ABBA01052962;AC104046;AMYH01006894;NG_009323 FABP5L9 APPROVED pseudo 31064 INFERRED 1343684 FABP5P7 fatty acid binding protein 5 pseudogene 7 11 11 11 q12.1 56911322 56911966 - 59305125 59306162 - 59548580 59549224 - 728641 ABBA01021509;AMYH01003663;AP000640;NG_009321 1666195 STS-H71666 FABP5L7 APPROVED pseudo 31070 INFERRED 735842 FABP2 fatty acid binding protein 2, intestinal The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Intestinal fatty acid-binding protein 2 gene contains four exons and is an abundant cytosolic protein in small intestine epithelial cells. This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele. Thr-54 protein is associated with increased fat oxidation and insulin resistance. [provided by RefSeq, Jul 2008] 4 4 q28-q31 120457853 120462766 - 120238405 120243316 - 1300312;1582392;1300313;1300314;1580863;1578456;1578455;1626400;1578458;1578457;1626401;1626413;1626412;1626407;1626414;6480464 10946885;16013194;10999802;7883976;16311100;16289894;14981227;15620432;16249461;16919542;11699048;15059615;17211557;10337870 17512303;15572430;2824476;19491387;19475463;19384318;19367093;19324445;19282863;19156719;19056482;19023099;18824579;18701184;18660489;18634911;18506375;18440731;18422024;18282109;18280114;18201778;18065580;17992640;17975119;17960769;17921407;17914506;17907115;17684408;17633563;17605029;17594477;21044950;22838187;17447159;17428383;17383953;17343826;17310796;17292994;17212611;17209184;17143557;16945373;16908951;16809903;16733910;16718632;16718625;16679929;16276364;16002819;15869758;15776585;15764642;15598690;11385507;11299043;11288045;10856711;10070036;9806794;9250601;9204553;8954037;8454101;8401509;3838313;2263509;2193826;1740333;15527447;15489334;15177133;15159243;15135268;15135251;14686962;14666368;14650352;14605999;14567680;14563446;12899384;12855223;12809489;12691171;12634920;12477932;12377750;12370850;12189904;12161503;12079887;11866034;11730822;11707533;11606480;11555846;11423496;15547295;19913121;20565774;20578207;20621703;20628086;20673868;20723947;19288030;19439328;19499240;19578796;19689066;19689828;19878569;19948975;19961041;20047744;20080390;20202768;20308031;20329566;20332099;20384434;20413122;20416077;20452482;20484485;20534879;17207965;21079390;21288588;21355293;21840466;21767383;22396741;21861348 2169 P12104 ABBA01044706;AC092656;AK025079;AMYH01014484;BC069466;BC069617;BC069625;BC069637;BC111791;CH471229;M18079;NG_011444;NM_000134 AAA52417;AAH69466;AAH69617;AAH69625;AAH69637;AAI11792;ADQ32865;EAW73666;NP_000125;P12104 Hs.282265 1683673;1741219;1761391;1794444;2110391;2153883;2164632;5014784 FABP2_200;GDB:178665;PMC31346P1;SHGC-145405;SHGC-59292;SHGC-59542;SHGC4-110;SHGC4-8 FABPI;I-FABP;MGC133132 OTTHUMP00000163925;fatty acid binding protein 1;fatty acid-binding protein 2;fatty acid-binding protein, intestinal;intestinal-type fatty acid-binding protein 2289563 BW441_H APPROVED protein-coding ENSG00000145384 3556 00611 134640 REVIEWED 6481032 FABP7P2 fatty acid binding protein 7, brain pseudogene 2 2 96034290 96034631 - 100874317 ABBA01003561;AC009238;AMYH01010688;NG_032382 pseudo 41952 INFERRED 5132511 FABP7P1 fatty acid binding protein 7, brain pseudogene 1 1 1 q44 217075360 217075745 - 243787684 243788420 - 100506953 ABBA01047212;AL662889;AMYH01001887;NG_029025;NG_029764 pseudo 41951 INFERRED 1343200 FABP9 fatty acid binding protein 9, testis 8 8 8 q21.13 78375577 78378717 - 82533173 82536313 - 82370618 82373758 - 634410;6480464 7958448 10318917;18803274;18950845 646480 Q0Z7S8 ABBA01004052;AC018616;AMYH01018830;CH471068;DQ821473;NM_001080526 AAI52781;ABG49443;EAW87091;NP_001073995;Q0Z7S8 Hs.653176 PERF;PERF15;T-FABP OTTHUMP00000227026;TLBP;fatty acid-binding protein 9;lipid-binding protein;testis lipid binding protein;testis lipid-binding protein;testis-type fatty acid-binding protein protein-coding ENSG00000205186 3563 PROVISIONAL 69087 FABP3 fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. [provided by RefSeq, Jul 2008] 1 1 p33-p32 31610687 31618510 - 31838100 31845923 - 1582401;1580863;2307331;2307330;2307328;1578459;6480464 8326460;18437121;7744030;17515913;16249436 3421901;7962070;18660489;18469019;18460953;18412949;18256058;18159110;18021874;17826730;17721027;17428383;17289870;16710414;16429158;15489334;15459486;15068254;12872269;12721663;12477932;8661024;8262516;7922029;7757968;7691977;7498159;2266970;2266954;2040092;1710107;1526991;22838188;20930282;19913121;20628086;20677014;20691835;20821366;20457766;16169070;18571749;19552571;19554614;19576209;19596235;20057506;20468064;20391015;20709047;20802519;19806479;20563994;21535886;23093954;20716856;21307379;23029183;20834198;17987659;20360068;21617322;22044705;22396741;21139048;21937835;21143341;21729325;22222353;23455491 2170 P05413;Q6IBD7 ABBA01023469;AI494244;AK314122;AL451070;AMYH01000456;BC007021;BT006727;CH471059;CR456867;NM_004102;S67314;U17081;U57623;X56549;Y10255 AAB02555;AAB29294;AAC99800;AAH07021;AAP35373;ABM84080;ABM87448;BAG36813;CAA39889;CAA71305;CAG33148;EAX07618;EAX07619;NP_004093;P05413 Hs.657242 5019923 RH94406 FABP11;H-FABP;M-FABP;MDGI;O-FABP Fatty acid-binding protein 3, muscle;M-FABP;OTTHUMP00000003898;fatty acid binding protein 11;fatty acid binding protein 3;fatty acid-binding protein, heart;heart-type fatty acid-binding protein;mammary-derived growth inhibitor;muscle fatty acid-binding protein APPROVED protein-coding 3557 00613 134651 REVIEWED 733453 FABP4 fatty acid binding protein 4, adipocyte FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008] 8 8 q21 82553481 82558004 - 82390732 82395473 - 737747;1625411;1625407;1625406;1625408;1580863;6480464 8910278;9059981;17391165;16919044;17137605 2481498;17353931;16130169;19368945;19197257;19181913;19115207;19001529;18996102;18820256;18660489;18564921;18535557;18437151;18421072;18417367;18024526;17826730;17553506;17535427;17428383;17425064;17396233;17322100;16952017;16750515;16641093;16313911;15734831;15489334;15456755;15168018;15015141;12477932;12417276;10318917;9204877;9070383;8463311;7784447;1648089;1304913;21562251;21407103;16169070;21159847;19913121;20628086;20388924;18029348;18657008;18710473;19421706;19573524;19608978;19615732;19625659;19842034;19844814;19911253;20009357;20111020;20156355;20413122;20870707;20231079;20587710;22679309;20193950;21106915;21073559;20723896;21167393;20579864;21176857;21257725;22706792;22855337;21552513;22717543;19144635;21063874;21421494;22174896;20452069;21600061;21664182;21376375;22589738;21966368;21720879;21900206;22396741;21492859;21775757;22102888;18835952;18931100;22188744;23052058;23068962;23139800;22918198;22617714;23183502;23183506;23372061;22562362;18051367;22476608;22584136;23013043;22709426;23535730 2167 E5RIR0;E7DVW4;P15090 ABBA01004052;AC018616;AMYH01018830;BC003672;BQ880795;BT006809;CD000452;CH471068;CR456903;HQ384160;J02874;NM_001442 AAA51689;AAH03672;AAP35455;ADU05469;ADZ16076;CAG33184;EAW87092;NP_001433;P15090 Hs.391561 A-FABP;AFABP;ALBP;aP2 AFABP;ALBP;OTTHUMP00000227027;adipocyte lipid-binding protein;adipocyte-type fatty acid-binding protein;fatty acid binding protein 4;fatty acid-binding protein 4;fatty acid-binding protein, adipocyte APPROVED protein-coding ENSG00000170323 3559 02698 600434 REVIEWED 5683941 FADS2P1 fatty acid desaturase 2 pseudogene 1 11 q12.1 56658263 56671985 + 16554811 643181 A8MWK0 ABBA01021464;AP000479;NG_032737 A8MWK0 pseudo 43618 INFERRED 736313 FABP5 fatty acid binding protein 5 (psoriasis-associated) This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011] 8 8 q21.13 82355340 82359563 + 82192718 82197012 + 1580863;6480464;6484672 21621639 16806233;16759896;15592455;15489334;15335354;12665801;12477932;12049637;11113456;10493790;10331666;10191275;17428383;8092987;12839573;1512466;16130169;19337991;18729184;18360704;9438903;9285630;8947466;8726632;8427590;8125298;1286667;17353931;20424164;20040021;21356353;19434059;20833513;19339807;19554614;19861119;20057506;15146197;21288588;20563994;22761399;23535730;19156129;20452069;21139048;21890473;21906983;21492859;22010213;22825302;23000965;23039948;22505724 2171 E7DVW5;I6L8B7;Q01469 ABBA01004054;AC009902;AK226036;AK311856;AMYH01018830;BC019385;BC070303;BT007449;CH471068;CN278427;HQ384161;M94856;NG_028154;NM_001444 AAA58467;AAH19385;AAH70303;AAP36117;ABM82211;ABM85396;ADU05470;BAG34797;EAW87088;NP_001435;Q01469 Hs.408061 1665701;1772667;2147510;2164729;5022271 D17S1973;RH36058;RH45783;RH66700;SHGC-53379 E-FABP;EFABP;KFABP;PA-FABP;PAFABP OTTHUMP00000166021;OTTHUMP00000166022;epidermal-type fatty acid-binding protein;fatty acid binding protein 5, epidermal;fatty acid-binding protein 5;fatty acid-binding protein, epidermal;psoriasis-associated fatty acid-binding protein homolog APPROVED protein-coding ENSG00000164687 3560 05524 605168 REVIEWED 1353760 FABP7 fatty acid binding protein 7, brain The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid binding proteins (FABPs) are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs are thought to play roles in fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008] 6 6 q22-q23 123142345 123146918 + 123100646 123105219 + 1580863;6480464 9375786;9250612;18826602;18593473;18391847;17898869;17646957;17428383;17415524;16623952;15900300;15827123;15489334;14702039;14574404;12975368;12771203;12612091;12479569;12477932;10854433;10497880;9591779;9242429;8833192;8798739;22583899;19540848;19554614;19587692;19608352;19622156;20057506;19590950;20563994;20834042;22322885;21399875;21620951;21771320;22689954;21143341;23284888;22562177;23020859 2173 O15540;Q9H047 ABBA01025981;AI879148;AJ002962;AK091664;AK289836;AK311867;AL512688;AL645811;AMYH01016636;AW156936;BC012299;BI860090;CH471051;CR457057;D50373;D88648;GM675548;NM_001446;U51338;U81235 AAB87141;AAD00507;AAH12299;ABM82363;ABM85539;ABW03402;BAA23324;BAA23645;BAF82525;BAG34808;CAA05773;CAC21646;CAG33338;CAV33163;EAW48165;EAW48166;EAW48167;NP_001437;O15540 Hs.26770 B-FABP;BLBP;DKFZp547J2313;FABPB;MRG OTTHUMP00000017118;OTTHUMP00000017119;brain lipid binding protein;brain lipid-binding protein;brain-type fatty acid-binding protein;fatty acid-binding protein 7;fatty acid-binding protein, brain;mammary-derived growth inhibitor related;mammary-derived growth inhibitor-related APPROVED protein-coding ENSG00000164434 3562 04271 602965 REVIEWED 1345195 FADD Fas (TNFRSF6)-associated via death domain The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008] 11 11 q13.3 69726917 69731144 + 70049269 70053508 + 1580863;2292150;4143170;4143196;4143171;6480464;6484113;6907045 12655295;17403612;19239902;19961901 21979465;15207703;15173180;15034549;14573612;12954630;12911633;12851487;12815462;12721308;12702765;12702723;12684039;12604344;12499380;12496482;12482751;12477932;12235128;12220669;12198154;12196516;12122017;12107169;12037669;11975981;11965497;11877464;11859150;11828002;11805265;11753396;11752160;11740202;11739185;11717445;11395500;11376335;11353862;11034606;11002422;10911999;7538907;7536190;14644197;11101870;12761501;18029348;8681376;9721089;10894160;12887920;19364499;19362094;19118384;19074885;18840411;18813792;18632964;18632871;18174230;17977957;17975136;17911615;17656375;17511679;17235653;17031492;16937440;16871589;16844082;16762833;16710361;16538383;16528386;16450001;16410793;16339514;16289096;16258269;16227629;16177127;16127453;16109772;16061179;16006552;16003390;15956881;15916534;15849201;15778222;15688372;15645452;15601308;15489334;15485835;15452120;15452117;15383280;15280356;10848577;10825539;10640736;10493725;10442631;10235259;9990010;9774341;9582077;9521326;9430227;9215629;9208847;9045686;9037025;8967952;8955195;8565075;11741985;15659383;9325248;9082980;19060883;9228018;9560245;9326610;11854271;8906799;16169070;15782135;15761471;15665818;12796506;11112409;22864571;20420860;10880445;11048727;14694156;16498403;17159907;17290218;18328427;18485876;19303913;19336038;19453261;19524513;19557578;19573080;19583773;19773279;19955841;20070122;20353946;20438666;20484047;16360037;21109225;20568250;20802294;20943999;21048031;21115735;19415536;20588308;20040024;20935634;21183682;12753742;20947025;20890306;11940602;19593445;10542291;21525013;21315423;23606538;21706480;21894190;16611992;18309324;21620750;21737329;21900206;21978935;21613217;20448643;22179575;22253026;22130896;21785459;17360386;19373245;22266862;22322857;11035039;15388581;21724995;15048887;15069192;21052097;22297296;22838074;22848449;23096115;17047155;21822306;21988832;22126763;22274400;19125371;19176810;21458669;21803845;22585859;18387192;22922561;23142077 8772 Q13158;Q6LCG1 ABBA01010301;AI886015;AK291005;AL575732;AMYH01003776;AP000879;AY423721;BC000334;BC025733;BT006927;CH471076;CR456738;DQ449938;NG_027966;NM_003824;U24231;U62022;U74301;X84709 AAA86517;AAB58469;AAB58483;AAH00334;AAP35573;AAS00484;ABD96828;ABW03636;BAF83694;CAA59197;CAG33019;EAW74760;EAW74761;EAW74762;NP_003815;Q13158 Hs.86131 GIG3;MGC8528;MORT1 FAS-associated death domain protein;Fas-associating death domain-containing protein;Fas-associating protein with death domain;OTTHUMP00000235551;growth-inhibiting gene 3 protein;mediator of receptor induced toxicity;mediator of receptor-induced toxicity;protein FADD APPROVED protein-coding ENSG00000168040 3573 03909 602457;613759 REVIEWED 737077 FABP6 fatty acid binding protein 6, ileal This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q33.3-q34 159558626 159598307 + 159614374 159665729 + 1580863;6480464 9250612;7588781;17909007;17266179;16951225;16237211;15936983;15489334;14702039;14654244;12486725;12477932;10806391;10514450;8805562;8527237;7894165;7619861;19913121;20628086;19744871;17207965;22329738;22223860;18029348 2172 H0YB64;P51161 ABBA01044222;ABBA01044223;ABBA01044224;AC008609;AC112191;AI208231;AJ250902;AJ276802;AMYH01015759;BC022489;CH471062;DQ132786;NG_029500;NM_001040442;NM_001130958;NM_001445;U19869;X90908 AAB82751;AAH22489;ABA12611;ADQ32819;CAA62415;CAB65728;CAC81780;EAW61563;EAW61564;EAW61565;EAW61566;NP_001035532;NP_001124430;NP_001436;P51161 Hs.519719 1667816;1731170;1778312;1848292 AFMA081ZD5;D5S1389;D5S1761;D5S527 I-15P;I-BABP;I-BALB;I-BAP;ILBP;ILBP3;ILLBP GT;OTTHUMP00000160846;OTTHUMP00000198697;fatty acid binding protein 6;fatty acid-binding protein 6;gastrotropin;ileal bile acid binding protein;ileal lipid-binding protein;illeal lipid-binding protein;intestinal 15 kDa protein;intestinal bile acid-binding protein APPROVED protein-coding ENSG00000170231 3561 02689 600422 REVIEWED 7241717 FAF2P1 Fas associated factor family member 2 pseudogene 1 100128043 ABBA01021925;AL359707;AMYH01002944;NG_022153 pseudo 45172 INFERRED 68475 FADS2 fatty acid desaturase 2 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 11 11 q12.2 61352289 61391401 + 61595713 61634825 + 1580863;6480464 21793953;20339536;20694148;9867867;19352218;19148276;19144731;19060911;19060910;19060906;18937842;18936223;18842780;18626191;18479586;18320251;17984066;17852835;17284757;16908951;16893529;16670158;16303743;14702039;12951357;12851727;12713571;12562861;12477932;12147235;10860662;9445487;19913121;20562440;20628086;20644632;19546342;19776639;19809313;20045144;20335541;20364269;20379614;20395685;20427696;20484448;20565855;20980488;21106917;20714348;20948998;20972250;21040914;20691134;19875987;19948371;22748975;20615514;22629455;21605700;21414826;23221573;21818279;16196087;21629299;21987572;21139048;21733300;21890473;21917437;21980057;16344560;23000965;23211517;23160180;22140540;20686565;21829377;22001757;22286219;22359512;22877655;23414387;23464991;22960237;16713569;22194195;22505724;22619218;22916037;23128233;23362303;23378610;21560298 9415 B7Z634;E5RGD8;E5RGZ5;E5RHL3;F5GZ92;F5GZU2;F5H622;O95864 AA665550;ABBA01003206;AF084559;AF108658;AF126799;AK027459;AK027513;AK027577;AK074925;AK074939;AK074991;AK123240;AK290291;AK299762;AL050118;AMYH01003684;AP002380;BC009011;CH471076;CQ782909;DA233832;HY090295;NM_001281501;NM_001281502;NM_004265 AAD20018;AAG23121;AAG43192;AAH09011;BAB55167;BAC11305;BAF82980;BAG51327;BAG51351;BAG52031;BAG53882;BAH13120;CAB43280;CAF86135;EAW73974;EAW73975;NP_001268430;NP_001268431;NP_004256;O95864 Hs.502745 1644761;1673469;1710744;1731283;1737015;1737019;1852998;2181833 D11S2574;D11S2768;D11S2771;D11S699;RH11733;SHGC-84003;STS-T78856;STS-Z40715 D6D;DES6;FADSD6;LLCDL2;SLL0262;TU13 OTTHUMP00000224924;OTTHUMP00000224926;OTTHUMP00000224929;OTTHUMP00000224931;delta(6) desaturase;delta(6) fatty acid desaturase;delta-6 desaturase;delta-6 fatty acid desaturase;delta-6-desaturase;fatty acid desaturase 2;linoleoyl-CoA desaturase (delta-6-desaturase)-like 2 APPROVED protein-coding ENSG00000134824 3575 05854 606149 REVIEWED 1344024 FADS1 fatty acid desaturase 1 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008] 11 11 q12.2-q13.1 61323679 61340886 - 61567097 61584529 - 1625415;1625413;1625421;6480464 12144877;16099631;8446010 16303743;10601301;17353931;19148276;19060910;19060906;19043545;18936223;18842780;18660489;18626191;18479586;18320251;17852835;17655842;16893529;16846730;16806233;16670158;16643857;21793953;14702039;12477932;10860662;10769175;9445487;9110174;8619474;8125298;15342556;19750004;19776639;19809313;20037589;20045144;20060505;20081858;20185807;20335541;20364269;20385826;20395685;20419449;20427696;20484448;20339536;20694148;19913121;20562440;20571754;20628086;20639392;20691134;20565855;21106917;21102463;19875987;19948371;20714348;20716318;20948998;20972250;20980488;21040914;20864672;22748975;22629455;21593353;21383846;21605700;21599946;21414826;21613373;21818279;21733300;21917437;18781797;21139048;21890473;21906983;21987572;22490578;22581228;20686565;21829377;21886157;22001757;22286219;22359512;22153152;21963094;23000965;23211517;23128233;23281178;23303382;23362303;23378610;22960237;22877655;22619218;22916037;22505724;23160180;21560298;22911844;22900039;23221573 3992 C9J425;C9JJB3;F5GWE3;F5GYH4;F5H0Y2;F5H1Q7;F5H2H3;F5H2R9;F5H3P6;F5H3U5;F5H5X5;F5H852;F5H8G5;H0YB97;H7C2V0;Q96SV3 ABBA01003206;AC004770;AF035284;AF084558;AF199596;AF226273;AF271778;AI052027;AK027427;AK027522;AK074754;AK074819;AK096275;AK222906;AK289552;AK298871;AK314199;AL512760;AL834479;AMYH01003683;AP002380;BC007846;BP253788;CH471076;NM_013402 AAC23397;AAF29378;AAF70457;AAG23120;AAG44789;AAH07846;ABM84748;ABM92260;BAB55103;BAB55173;BAC11182;BAC11229;BAD96626;BAF82241;BAG36877;BAG53244;BAH12889;CAC21679;CAD39138;EAW73973;NP_037534;O60427 Hs.503546 1754337;1772132;1850975;2128209;2158312;2161002;2179675 D11S4702;RH11578;SHGC-132364;SHGC-24041;STS-W80802;WI-20214;WI-21900 D5D;FADS6;FADSD5;FLJ38956;FLJ90273;LLCDL1;TU12 OTTHUMP00000211567;OTTHUMP00000211568;OTTHUMP00000238177;delta(5) desaturase;delta(5) fatty acid desaturase;delta-5 desaturase;delta-5 fatty acid desaturase;fatty acid desaturase 1;linoleoyl-CoA desaturase (delta-6-desaturase)-like 1 APPROVED protein-coding ENSG00000149485 3574 06935 606148 REVIEWED 1351054 FADS6 fatty acid desaturase 6 17 17 17 q25.1 69466722 69482928 - 70385068 70401300 - 72873473 72889705 - 1580863;6480464 14702039;12477932 283985 J3QRK6;Q8N9I5 ABBA01028823;ABBA01028824;AC068874;AK094411;AK293720;AMYH01008628;AY203929;BC117230;CH471099;NM_178128 AAI17231;AAP34452;BAC04349;BAG57151;EAW89210;EAW89211;NP_835229;Q8N9I5 Hs.448845 5015619 D11S3114 FP18279 fatty acid desaturase 6;fatty acid desaturase domain family, member 6 APPROVED protein-coding ENSG00000172782 30459 13285 VALIDATED 1352711 FADS3 fatty acid desaturase 3 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008] 11 11 11 q12-q13.1 58976232 58994230 - 61397574 61415582 - 61640998 61659006 - 1580863;6480464 10860662;19148276;19060911;19060906;14702039;12477932;19913121;20562440;20628086;19750004;19752397;19798445;20972250;21040914;20339536;21366865;22398025;21906983;20686565;21829377;22286219;22359512;21139048;22877655;23000965;23362303;23378610;22916037 3995 E9PKP8;E9PPZ4;E9PQC2;E9PS00;F5H2V5;H0YCN1;H0YED5;Q9Y5Q0 AB209356;ABBA01003206;ABBA01003207;ABBA01003208;AF084560;AF134404;AK091608;AK295473;AK310523;AMYH01003684;AP006260;BC004901;CH471076;NM_021727 AAD31282;AAG23122;AAH04901;ABM83806;ABM87128;BAD92593;BAH12081;EAW73976;EAW73977;EAW73978;NP_068373;Q9Y5Q0 Hs.21765 1335294;5024761;7187470 D7S511;RH36905 CYB5RP;LLCDL3 OTTHUMP00000236055;OTTHUMP00000236056;OTTHUMP00000236059;cytochrome b5-related protein;delta-9 fatty acid desaturase;delta-9-desaturase;fatty acid desaturase 3;linoleoyl-CoA desaturase (delta-9-desaturase)-like 3 APPROVED protein-coding ENSG00000221968 3576 07547 606150 REVIEWED 6766683 FAHD2CP fumarylacetoacetate hydrolase domain containing 2C, pseudogene 2 q11.1 96676299 96688884 + 15146197;16341674 729234 ABBA01030080;ABBA01030081;AC013272;AMYH01010714;AMYH01010715;BI916267;BM790702;CN274361;NR_003698 Hs.720108 1685548;1734856;1734924;1740117;1751263;2156152;2165582;2177997 D2S1603E;D2S1692E;D2S2136;RH26381;RH35908;RH79204;SGC35015;SHGC-105076 pseudo ENSG00000231584 44135 VALIDATED 1626693 FAHD2P1 fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 12 12 12 q15 70729236 70730495 + 69351965 69353078 + 71065569 71066812 + 729610 ABBA01026521;AC083809;AMYH01004576;NG_006649 FAHD2P APPROVED pseudo 32441 INFERRED 1602649 FAHD2B fumarylacetoacetate hydrolase domain containing 2B 2 2 2 q11.2 92191478 92202734 - 97113050 97124309 - 97749323 97760582 - 6480464 12477932 151313 Q6P2I3 ABBA01036561;ABBA01036562;AC018892;AK295056;AL833869;AMYH01010728;AMYH01010729;BC064511;CH471207;NM_199336 AAH64511;AAY14641;BAG58105;CAD38727;EAW71308;EAW71309;EAW71310;EAW71311;EAW71312;EAW71313;EAW71314;NP_955368;Q6P2I3 Hs.567723 1734856;5113488;5127467 D2S1603E;G06210;RH26818 DKFZp434N062 OTTHUMP00000161093;OTTHUMP00000207739;fumarylacetoacetate hydrolase domain-containing protein 2B protein-coding ENSG00000144199 25318 13198 PROVISIONAL 1345912 FAHD2A fumarylacetoacetate hydrolase domain containing 2A 2 2 2 q11.2 90421569 90432000 + 95432175 95442606 + 96068448 96078879 + 1580863;6480464 15551868;12477932;10810093;7566098;17207965;20532202;14702039;21987572;21139048 51011 C9J5B6;C9JGM0;Q96GK7 AA311902;ABBA01003556;ABBA01003557;ABBA01003558;AC009238;AF151863;AK092980;AMYH01010688;BC009403;BC110911;CH471219;NM_016044 AAD34100;AAH09403;AAI10912;AAY14753;ADQ32346;EAX10729;EAX10730;EAX10731;EAX10732;EAX10733;NP_057128;Q96GK7 Hs.531247;Hs.546387 1734856;1734924;2156152;2165582;5113488;5123755;5127467 D2S1603E;D2S1692E;G06210;RH26818;RH35908;SGC35015;WI-12180 CGI-105;FLJ35661;MGC131995 OTTHUMP00000160946;OTTHUMP00000207352;fumarylacetoacetate hydrolase domain containing 1;fumarylacetoacetate hydrolase domain-containing protein 2A protein-coding ENSG00000115042 24252 13287 VALIDATED 733367 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008] 15 15 q25.1 78232396 78265737 + 80445233 80478924 + 737743;737742;1580863;1300048;1559295;6480464;6907045;7240710 11209059;7545495;15731461 8318997;8364576;1998338;9305902;18072279;15759101;15638932;15489334;15465000;14718574;12477932;11476670;11278491;11196105;9633815;9101289;8829657;8723698;8557261;8422430;8162054;8028615;8005583;7977370;7942842;7821789;7757089;7550234;7296877;6622096;2378358;2378356;2336361;1401056;20201926;20029029;8889548;22554029;22884142;21890473;21963094;21764616;20301688 2184 H0YLC7;H3BNP8;P16930;Q53XA7 ABBA01060623;ABBA01060624;AC087761;AK297965;AK313951;AMYH01006849;BC002527;BQ225295;BT007160;BU679766;BX537608;CH471136;D28440;M55150;NG_012833;NM_000137;S63548;S63549;X51728 AAA52422;AAH02527;AAP35824;BAA05806;BAG36668;BAH12698;CAA36016;CAD97795;EAW99120;EAW99121;NP_000128;P16930 Hs.73875 1743677;1743679;1744519;1744521;1744523;1788720;2125654;2183487;5106333;5120684 GDB:369113;GDB:369116;GDB:370745;GDB:512183;GDB:512186;GDB:512189;RH13;RH136637;RH77779;STS-AA010559 FLJ51912 FAA;OTTHUMP00000185572;beta-diketonase;fumarylacetoacetase APPROVED protein-coding ENSG00000103876 3579 02040 276700;613871 REVIEWED 1348488 FAHD1 fumarylacetoacetate hydrolase domain containing 1 16 16 16 p13.3 2089471 2102473 + 1817226 1830173 + 1877225 1890208 + 6480464 15231747;16381901;15551868;15489336;15489334;14702039;12477932;11256614;11230166;11157797;11076863;20237496;20877624;21878618;22990118;17342744;21139048 81889 Q6P587 ABBA01030293;ABBA01030294;AC012180;AE006639;AF293367;AK094199;AL031722;AL136720;AMYH01007041;BC020615;BC063017;CH471112;CR533499;NM_001018104;NM_001142398;NM_031208 AAG10069;AAH63017;AAK61295;BAC04308;CAB66654;CAG38530;CAL37660;EAW85608;NP_001018114;NP_001135870;NP_112485;Q6P587 Hs.513265 5037552 D8S2279 C16orf36;DKFZp566J2046;MGC74876;YISKL OTTHUMP00000158841;OTTHUMP00000158842;OTTHUMP00000158843;YISK like/RJD15;acylpyruvase FAHD1, mitochondrial;fumarylacetoacetate hydrolase domain-containing protein 1;yisK-like protein protein-coding ENSG00000180185 14169 13286 VALIDATED 1604379 FAF2 Fas associated factor family member 2 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 172564653 172626310 - 175807962 175869681 + 175875356 175937075 + 6480464 17353931;15489334;12477932;12372427;10048485;22466964;18775313;18835813;19615732;19818707;20160012;21115839;22939629;14741744;16196087;22238364;19815544;21726808;21987572;21139048;21890473;21906983;19322201;21636303;21909096;18711132;20435896;21857022;22119785;22454508;21853274;22337587;22350894;22505724;22797925;23297223 23197 D6RBG6;Q96CS3 AB020694;AB088120;ABBA01033495;ABBA01033496;ABBA01033497;AC010297;AC010316;AK304346;AL706430;AMYH01015860;AMYH01015861;BC001069;BC006145;BC014001;BC015791;CH471195;NM_014613 AAH01069;AAH06145;AAH14001;ABM83626;ABM87292;BAA74910;BAC22491;BAG65190;EAW85073;EAW85074;EAW85075;NP_055428;Q96CS3 Hs.484242 1663244;1689863;1699242;1730381;1740439;1748487;1780750;1853824;2168023 D5S2245E;D5S439E;RH103202;RH46161;RH47275;RH68559;RH79667;SHGC-511;bac51930T ETEA;KIAA0887;UBXD8;UBXN3B FAS-associated factor 2;OTTHUMP00000223381;UBX domain containing 8;UBX domain protein 3B;UBX domain-containing protein 3B;UBX domain-containing protein 8;expressed in T-cells and eosinophils in atopic dermatitis APPROVED protein-coding ENSG00000113194 24666 16870 REVIEWED 733981 FAF1 Fas (TNFRSF6) associated factor 1 Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008] 1 1 p33 50679523 51198524 - 50906935 51425936 - 6480464 14600157;15596450;11713579;15743842;10462485;15688372;12702723;19422935;19174780;18790738;18573343;17999750;17684021;17046979;15592455;15489334;15231748;15207703;14702039;12963981;12832043;12477932;12372427;12087183;11527403;11378439;11243799;10810093;10094392;9740801;8524870;16169070;21414298;18775313;19615732;19722279;20057067;20124726;20237496;20379614;21076409;20886065;20195546;19913121;20628086;22939629;21295280;19013454;22863883;21282461;21645854;21411632;21849551;21914798;22730322;19471022;21139048;21890473;21906983;21963094;16807242;22876279;20639865;21900206;21978668;21987572;22102026;22064162;22053931;22350894;22505724 11124 B1ANM7;B3KT28;B4DEJ6;Q9UNN5 ABBA01074817;ABBA01074818;ABBA01074819;ABBA01074820;ABBA01074821;ABBA01074822;ABBA01074823;ABBA01074824;ABBA01074825;ABBA01074826;ABBA01074827;ABBA01074828;ABBA01074829;AC091610;AC118557;AF094700;AF106798;AF132938;AF136173;AJ271408;AK094843;AK292840;AK293659;AL049637;AL133631;AL359977;AL603746;AMYH01000608;AMYH01000609;AMYH01000610;BC004970;BC067100;CH471059;FB580531;NM_007051 AAD27713;AAD51876;AAD51886;AAH04970;AAH67100;AAP97263;ABM83865;ABM87187;BAF85529;BAG52940;BAG57107;CAB63755;CAB67705;CAR98246;EAX06837;EAX06838;NP_008982;Q9UNN5 Hs.530402 1335275;1648838;1658672;1697332;1733140;1781420;1846684;1853547;2133969;2143662;2146801;2146803;2153343;2166215;2177188;5106939;5110900 A005U39;AL009799;D1S1452;D1S2096;D1S2159;D1S427;G16233;G16279;G20519;G23937;RH102163;RH66672;RH67781;SHGC-111441;SHGC-74798;SHGC-74799;SHGC-74801 CGI-03;FLJ37524;HFAF1s;UBXD12;UBXN3A;hFAF1 OTTHUMP00000009649;OTTHUMP00000009650;OTTHUMP00000009651;TNFRSF6-associated factor 1;UBX domain protein 3A;UBX domain-containing protein 12;UBX domain-containing protein 3A APPROVED protein-coding 3578 05124 604460 REVIEWED 1603318 FAIM3 Fas apoptotic inhibitory molecule 3 Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010] 1 1 q32.1 205144354 205161966 - 207076630 207095378 - 6480464 9586636;18029348;19347734;18708628;18434611;17553462;16344560;15342556;12477932;1563211;21264533;22675200;21133733;19858324;20042454;20237496;16712791;20410497;20211142;21613257;21908732;21908424;21756805;23128233 9214 E9PMT7;E9PN59;E9PPV1;E9PQG1;O60667 AA769146;ABBA01010194;ABBA01010195;AC098935;AF057557;AI524407;AK292007;AK297053;AK301187;AK316336;AMYH01001679;AMYH01001680;BC006401;BP225124;BP305798;BP338035;BT006797;CB158779;CH471100;DA971987;DB122623;DC393681;GQ160900;GQ160901;HI179036;HM480394;NM_001142473;NM_001193338;NM_005449 AAC18830;AAH06401;AAP35443;ABM81625;ACX94154;ACX94155;ADK11426;BAF84696;BAH12483;BAH13426;BAH14707;CBX53827;EAW93517;NP_001135945;NP_001180267;NP_005440;O60667 Hs.58831;Hs.744273 1338173;1796104;2167433 D1S2735;IL24_765;SHGC-76250 FcmR;TOSO Fc mu receptor;IgM Fc receptor;OTTHUMP00000034619;OTTHUMP00000228559;fas apoptotic inhibitory molecule 3;immunoglobulin mu Fc receptor;regulator of Fas-induced apoptosis Toso APPROVED protein-coding 14315 09349 606015 VALIDATED 1606962 FAM101A family with sequence similarity 101, member A 12 12 12 q24.31 124374399 124401227 + 123339663 123366521 + 124773710 124800570 + 6480464 16541075;14702039;12477932;16169070;23490283 144347 Q6ZTI6;Q8N2Q0 ABBA01060380;AC073916;AK074545;AK126577;AMYH01004846;BC026875;BC042102;BC067283;BC085606;BC141805;BQ182211;CH471054;NM_181709 AAI41806;BAC11049;BAC86601;EAW98447;NP_859060;Q6ZTI6 Hs.432901 2168542 WI-12422 FLJ44614 OTTHUMP00000239109;hypothetical protein LOC144347;protein FAM101A protein-coding ENSG00000178882 27051 14066 VALIDATED 1604467 FAM103A2P family with sequence similarity 103, member A2 pseudogene 6 6 6 q27 167738311 167739455 - 166918877 166920476 - 166999006 167000173 - 353267 ABBA01033442;AMYH01016850;NG_005047;Z98049 1680793 RH65049 C6orf119;MGC2560;dJ427A4.2 pseudo 21234 INFERRED 1605493 FAM102A family with sequence similarity 102, member A 9 9 9 q34.11 101354088 101394030 - 129742682 129782316 - 130702861 130742812 - 6480464 15164053;14605097;12477932;10737800 399665 Q5T9C2;Q69Z06 ABBA01043855;AK058004;AK074108;AL049365;AL157935;AMYH01021737;BC047949;BC137087;BC137088;BC142952;BI008660;CH471090;CN482844;NM_001035254;NM_203305 AAI37088;AAI37089;BAB84934;CAH10739;EAW87731;EAW87732;EAW87733;NP_001030331;NP_976050;Q5T9C2 Hs.535972 1735928;1758615;2124803;2170097;2185660 D9S1062E;RH15886;RH66401;SGC32949;SHGC-148931 C9orf132;EEIG1;MGC50853;SYM-3A;bA203J24.7 C230093N12Rik;OTTHUMP00000022216;OTTHUMP00000162379;early estrogen-induced gene 1 protein;protein FAM102A;sym-3 homolog A protein-coding ENSG00000167106 31419 13262 610891 VALIDATED 1605660 FAIM Fas apoptotic inhibitory molecule The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 3 3 3 q22.3 136752476 136777527 + 139810232 139834908 + 138327542 138352218 + 6480464 17942717;17912957;15489334;14702039;12477932;12107411;10075978;8889548;19592656;20693673;19913121;20628086;16341674;21890473;23138182 55179 C9JDZ2;Q9NVQ4 ABBA01059090;ABBA01059091;AC020890;AK001444;AK125477;AMYH01013531;BC012478;BM469375;BM738750;BQ638715;BU738945;CH471052;CR457122;NG_029625;NM_001033030;NM_001033031;NM_001033032;NM_018147 AAH12478;ABM82508;ABM85702;BAA91695;BAC86174;CAG33403;EAW79057;EAW79058;EAW79059;NP_001028202;NP_001028203;NP_001028204;NP_060617;Q9NVQ4 Hs.173438 5015619;5492037 BE112969;D11S3114 FAIM1 OTTHUMP00000216874;OTTHUMP00000216875;OTTHUMP00000216876;OTTHUMP00000216877;OTTHUMP00000216878;OTTHUMP00000216879;fas apoptotic inhibitory molecule 1 APPROVED protein-coding ENSG00000158234 18703 16874 REVIEWED 1348169 FAIM2 Fas apoptotic inhibitory molecule 2 12 12 12 q13 49056734 49093776 - 48546947 48583987 - 50260679 50297760 - 6480464;6484113 20336406;16964429;10535980;19079260;18440869;17912957;15489334;14702039;12477932;10231032;20816195;20935630;17207965;20843981;19557197;19812171;19851340;20215397;17635665;21957071;21935397;22889921 23017 B3KR08;F8VV65;F8VZI9;F8W1L3;H0YIR3;Q9BWQ8 AB023167;ABBA01031540;ABBA01031541;ABBA01031542;AC131157;AF190461;AK090728;AK290031;AL707764;AMYH01004448;BC000051;BX647219;CH471111;NM_012306 AAF06327;AAH00051;ADQ32488;BAA76794;BAF82720;BAG52220;EAW58103;EAW58104;NP_036438;Q9BWQ8 Hs.567424 1674216;1682021;1700998;1777987;2107069;2150309 A005A36;FAIM2__7619;RH104126;RH92688;WI-15126;WI-16236 KIAA0950;LFG;LFG2;NGP35;NMP35;TMBIM2 OTTHUMP00000242156;OTTHUMP00000242157;OTTHUMP00000242158;OTTHUMP00000242569;OTTHUMP00000242570;fas apoptotic inhibitory molecule 2;lifeguard;neural membrane protein 35;protein lifeguard;protein lifeguard 2;transmembrane BAX inhibitor motif containing 2;transmembrane BAX inhibitor motif-containing protein 2 protein-coding ENSG00000135472 17067 09184 604306 VALIDATED 1601917 FAM101B family with sequence similarity 101, member B 17 17 17 p13 390834 394350 - 289997 295959 - 289769 295731 - 6480464 14702039;16169070;15489334;12477932;21139048 359845 Q8N5W9 ABBA01015238;AC141424;AF085987;AK093557;AMYH01007974;AMYH01007975;BC014203;BC031341;CH471108;NM_182705 AAH31341;EAW90664;EAW90665;NP_874364;Q8N5W9 Hs.345588;Hs.723693;Hs.741149 1648800;1769230;2137016;2171546;5037552 D8S2279;RH36618;RH68688;SHGC-31105;STS-W52547 MGC45871 OTTHUMP00000163310;hypothetical protein LOC359845;protein FAM101B protein-coding ENSG00000183688 28705 14646 VALIDATED 1603518 FAM102B family with sequence similarity 102, member B 1 1 1 p13.3 107372915 107451865 + 108904622 108983472 + 109102971 109181949 + 6480464 17081983;16710414;15146197;14702039;12477932;8889548;19322201 284611 Q5T8I3 ABBA01068351;ABBA01068352;ABBA01068353;AK025203;AK094905;AL160171;AMYH01000926;BC127898;BC140863;BC140865;BC150530;BM680063;BQ426065;BX485163;CH471122;CN281555;CR749397;CR936815;NM_001010883 AAI27899;AAI40864;AAI40866;AAI50531;CAH18243;EAW56323;NP_001010883;Q5T8I3 Hs.200230 1652523;1683992;1690810;1719585;1855588;2116541;2142563;2147192;2157291;2166590;2174961;5093084;5122435 A002S12;A006S37;A009F33;AFMb014zb9;D1S2241;D1S3015;G32510;RH123696;RH78437;SHGC-75247;SHGC-75250;SHGC-75259;WI-14396 DKFZp686N01110;DKFZp779B126;SYM-3B OTTHUMP00000012636;OTTHUMP00000200315;hypothetical protein LOC284611;protein FAM102B;sym-3 homolog B protein-coding ENSG00000162636 27637 17339 VALIDATED 1604137 FAM106B family with sequence similarity 106, member B 17 17 p11.2 20261203 20263587 + 20320763 20321272 + 11997339;14639526;16625196 100996259 A6NHU5 AC015818;AMYH01008239;BK001591;XM_003846279;XM_003960667 A6NHU5;XP_003846327;XP_003960716 family with sequence similarity 106, member B protein-coding ENSG00000205217 32450 MODEL 1353979 FAM104B family with sequence similarity 104, member B X X X p11.21 59004694 59022786 - 55186260 55204334 - 55169535 55187628 - 737633;6480464 12477932 15772651;15489334;16344560;19322201 90736 Q5XKR9 ABBA01069560;ABBA01069561;ABBA01069562;AK000441;AK299935;AK311333;AK311699;AL590240;AMYH01022435;BC000919;BC006406;BC017571;BI850888;BX100076;CH471154;CK004182;DB216586;DC413808;NM_001166699;NM_001166700;NM_001166701;NM_001166702;NM_001166703;NM_001166704;NM_138362;NR_030722 AAH00919;AAH06406;AAH17571;BAG61768;EAW93215;EAW93216;EAW93217;EAW93218;NP_001160171;NP_001160172;NP_001160173;NP_001160174;NP_001160175;NP_001160176;NP_612371;Q5XKR9 Hs.415414 1853783 WI-21209 CXorf44;FLJ18375;FLJ20434 OTTHUMP00000023394;OTTHUMP00000218059;OTTHUMP00000218060;OTTHUMP00000218061;hypothetical protein LOC90736;protein FAM104B protein-coding ENSG00000182518 25085 06457 VALIDATED 6480998 FAM106DP family with sequence similarity 106, member D, pseudogene 17 58250683 58251177 + 100874406 ABBA01035417;AC025048;AMYH01008527;NG_032201 FAM106D pseudo 38397 INFERRED 1320685 FAM103A1 family with sequence similarity 103, member A1 15 15 15 q25.2 60927219 60931647 - 81445999 81450427 + 83654955 83659809 + 6480464 16189514;15489334;12477932;21145461;22099306 83640 Q9BTL3 ABBA01029433;AC022558;AK027095;AL049237;AMYH01006858;BC003627;BC027181;BC112329;BQ002618;CH471188;NM_031452 AAH03627;AAH27181;AAI12330;ABM83275;ABM86479;EAW62434;NP_113640;Q9BTL3 Hs.744202 1680793;2143588;5124267 RH64882;RH65049;STS-N36410 C15orf18;HsT19360;MGC102778;MGC2560;RAM OTTHUMP00000190868;RNMT-activating mini protein;chromosome 6 open reading frame 119;hypothetical protein LOC83640;protein FAM103A1 protein-coding ENSG00000169612 31022 12845 614547 VALIDATED 3302126 FAM106CP family with sequence similarity 106, member C, pseudogene 17 17 p11.2 16632940 16634195 + 16692057 16693815 + 12477932;16625196 100129396 P0CH98 AC098850;AMYH01008152;BC098294;BC098363;DN989334;NR_026810 P0CH98 Hs.712114 5128207 SHGC-149777 FAM106C;MGC120421;MGC120423 APPROVED pseudo 38396 VALIDATED 3516335 FAM108A11P family with sequence similarity 108, member A11, pseudogene 1 q21.1 146075482 146080247 + 100289252 AL049742;NG_023020 pseudo 38511 1642210 FAM108A3 family with sequence similarity 108, member A3 1 q21.1 144786833 144791604 + 16710414 653401 AL049742;NG_011737 C1orf47;FAM108A2 pseudo 33538 1602856 FAM104A family with sequence similarity 104, member A 17 17 17 q25.1 67786638 67811677 - 68715087 68740128 - 71203492 71228533 - 6480464 16344560;15489334;14702039;12477932;9417904 84923 J3KSI9;J3KT35;J3KT52;J3KT76;Q969W3 ABBA01028870;AC097641;AI926103;AK027681;AK074755;AK304556;AMYH01008618;BC011054;BC025238;BX537858;BX648968;CH471099;CQ783651;CQ871274;CQ871276;DB265439;NM_001098832;NM_032837;U92989 AAH11054;AAH25238;BAB55292;BAC11183;BAG65351;CAF86794;CAH56818;CAH56819;EAW89115;EAW89116;NP_001092302;NP_116226;Q969W3 Hs.741276 1788664;1854071;2173733;2174513;5118091 A004R48;G64273;RH18160;RH46289;RH66739 FLJ14775 OTTHUMP00000197844;OTTHUMP00000197845;hypothetical protein LOC84923;protein FAM104A protein-coding ENSG00000133193 25918 08602 VALIDATED 1604002 FAM105A family with sequence similarity 105, member A 5 5 5 p15.2 14604627 14639018 + 14634932 14664205 + 14581891 14616289 + 6480464 15489334;14702039;12477932;9110174;8619474;17207965;8125298;21890473;23000965;19322201;22053931 54491 Q9NUU6 ABBA01020638;AC010627;AC016656;AF052146;AK001989;AK125648;AK222731;AL512750;AMYH01014921;BC011524;BX342178;CH471102;NM_019018 AAH11524;ADQ32166;BAA92023;BAD96451;CAC21673;EAX08042;EAX08043;NP_061891;Q9NUU6 Hs.155085 1713375;2167744;5118802 D11S3665;RH119542;RH48809 FLJ11127;FLJ43660;NET20 OTTHUMP00000161688;hypothetical protein LOC54491;inactive ubiquitin thioesterase FAM105A;protein FAM105A protein-coding 25629 07733 VALIDATED 2303469 FAM106A family with sequence similarity 106, member A 17 17 p11.2 18369604 18370842 - 18427880 18430160 - 6480464 15489334;14702039;12477932 80039 Q4KMX7 AC107983;AK021862;AMYH01008175;BC098263;CH471109;NR_026809 BAB13918;EAW94359;EAW94360;Q4KMX7 Hs.674403 5128207 SHGC-149777 FLJ11800 miscrna ENSG00000213077 25682 07759 VALIDATED 1602667 FAM105B family with sequence similarity 105, member B 5 5 5 p15.2 14688765 14723825 + 14717783 14752842 + 14664783 14699842 + 6480464 16189514;15489334;14702039;12477932;21145461;20379614;22939629;23746843;21139048;21906983;19322201;21963094;23000965;23708998 90268 D6RD57;H0Y8S4;H0Y9T0;Q96BN8 ABBA01020638;AC010491;AK092203;AK095615;AK123480;AMYH01014922;BC007706;BC015392;CH471102;CK817982;NM_138348 AAH07706;AAH15392;BAC03828;EAX08037;EAX08038;EAX08039;NP_612357;Q96BN8 Hs.406335 1665899;1848589;2118376;2170426;5037552 D5S1623E;D8S2279;RH18318;SGC33915;WI-16043 FLJ34884 OTTHUMP00000220699;OTU domain-containing deubiquitinase with linear linkage specificity;deubiquitinating enzyme otulin;gumby;hypothetical protein LOC90268;protein FAM105B;ubiquitin thioesterase Gumby;ubiquitin thioesterase otulin protein-coding ENSG00000154124 25118 14266 VALIDATED 1606851 FAM110C family with sequence similarity 110, member C 2 2 2 p25.3 95571 103345 - 31608 36385 - 38814 46588 - 6480464 17499476;19698782;21130836 642273 Q1W6H9 ABBA01035628;AC097643;AK302544;AL137761;AMYH01010043;DQ431183;NM_001077710 ABD92775;BAG63816;NP_001071178;Q1W6H9 Hs.8379 1668486;2114291 D2S2621;D2S2851 FAM110C protein;OTTHUMP00000199834;protein FAM110C protein-coding 33340 611395 VALIDATED 1605094 FAM107A family with sequence similarity 107, member A 3 3 3 p21.1 58563266 58576915 - 58524884 58538531 - 58549844 58563491 - 6480464 17353931;10564580;16432833;16381901;16189514;15489336;15489334;15342556;14702039;12477932;11256614;11230166;11076863;10702698;9110174;8619474;20453842;16169070;18813805;20298674 11170 B7ZAY5;C9JAU5;J3KR61;O95990;Q6IAM1 AB023810;AB023811;ABBA01024378;ABBA01024379;AC116036;AC119424;AF035283;AF089853;AF089854;AK054720;AK055443;AK128791;AK298001;AK316450;AL050264;AMYH01013231;BC010561;BC093012;BP212425;BX645008;CH471055;CR457133;EU569833;NM_001076778;NM_007177 AAD16093;AAD16094;AAH10561;ABM82689;ABM85873;ACB71116;BAA82845;BAA83072;BAB70924;BAG51416;BAG54736;BAG60307;BAH14821;CAB43366;CAG33414;CAL38640;EAW65378;EAW65379;EAW65380;EAW65381;NP_001070246;NP_009108;O95990 Hs.506357 1652991;1667261;1778469;2114416;2138163;2162447 1818;D3S2857E;D3S3406;RH41806;SHGC-77037;SHGC-77047 DRR1;FLJ30158;FLJ45473;TU3A OTTHUMP00000214215;OTTHUMP00000214216;OTTHUMP00000214217;down-regulated in renal cell carcinoma 1;downregulated in renal cell carcinoma;family with sequence similarity 107 member A transcript;protein FAM107A protein-coding ENSG00000168309 30827 09753 608295 VALIDATED 1346416 FAM107B family with sequence similarity 107, member B 10 10 10 p13 14488586 14744941 - 14600565 14856902 - 14560559 14816896 - 6480464 16381901;15489336;15489334;15164054;12477932;11230166;11076863;19913121;20628086;16169070;16385451;20379614;20360068;19322201 83641 C9J3Q3;C9J6N5;C9J6Y8;C9JP05;C9JQ40;C9JW51;C9JYP1;F8WCJ2;F8WDH7;Q9H098 ABBA01034606;ABBA01034607;ABBA01034608;ABBA01034609;ABBA01034610;AC069544;AK024648;AK074275;AK127413;AK289959;AL136885;AL139405;AL157706;AL158168;AMYH01002051;AMYH01002052;AMYH01002053;AMYH01002054;BC004872;BC064407;BC072452;BC144707;CH471072;CR533466;NM_031453 AAH04872;AAH64407;AAH72452;BAC86966;BAF82648;CAB66819;CAG38497;CAL38476;EAW86268;EAW86269;EAW86270;EAW86271;NP_113641;Q9H098 Hs.446315 1649178;1682632;1688454;1709206;1730399;1749117;1757877;1768435;1779904;1848569;1857916;2137537;2186867;5093908 A009Y39;D10S2207;D10S234E;G17471;G32994;RH15693;RH45961;RH66346;RH81002;RH91603;SHGC-110797;SHGC-146750;SHGC-154110;SHGC-85782 C10orf45;FLJ45505;MGC11034;MGC90261 OTTHUMP00000216257;chromosome 10 open reading frame 45;hypothetical protein LOC83641;protein FAM107B protein-coding ENSG00000065809 23726 12575 PREDICTED 1605314 FAM110B family with sequence similarity 110, member B 8 8 8 q12.1 54900251 55055401 + 59069667 59224831 + 58907113 59062277 + 6480464 18029348;19240061;17499476;14702039;12477932;9110174;8619474;20889312;17207965;20379614;20360068;19322201;21919029 90362 B3KRT5;Q8TC76 ABBA01041784;ABBA01041785;AC027698;AC104350;AC110013;AK023658;AK026141;AK092221;AMYH01018741;AMYH01018742;AY937246;BC024294;CH471068;DQ431182;NM_147189;U79298 AAB50224;AAH24294;AAX28928;ABD92774;ADQ32245;BAG52497;EAW86801;EAW86802;NP_671722;Q8TC76 Hs.154652 1646061;1676240;1735782;1752033;1763905;1771195;1772040;1778678;1786846;2149287;2153005;5092860 A009B09;D8S1376E;D8S1396E;D8S1957;D8S2098;D8S2125;G32375;RH68613;RH91772;SHGC-106001;SHGC-147570;SHGC-172467 C8orf72;MGC39325 OTTHUMP00000226349;hypothetical protein LOC90362;protein FAM110B protein-coding 28587 14609 611394 VALIDATED 1604738 FAM109B family with sequence similarity 109, member B 22 22 22 q13.2 26276457 26281644 + 40800201 40805388 + 42470255 42475442 + 18029348;15489334;15461802;12477932;10591208;20133602;21233288 150368 B1AHR3;Q6ICB4 ABBA01055661;AMYH01012809;BC029776;BC104175;BC104176;BX648402;CH471095;CR456454;NM_001002034;Z82192;Z99716 AAH29776;AAI04176;AAI04177;ACE86939;ACE87627;CAG30340;CAK54435;CAK54734;EAW60487;NP_001002034;Q6ICB4 Hs.368312 DKFZp686J07229;IPIP27B;MGC125831;MGC125832;Ses2 27 kDa inositol polyphosphate phosphatase interacting protein B;OTTHUMP00000199675;OTTHUMP00000199676;hypothetical protein LOC150368;sesquipedalian-2 protein-coding ENSG00000177096 27161 17305 614240 VALIDATED 1602835 FAM109A family with sequence similarity 109, member A This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 12 12 12 q24.12 111424946 111433416 - 110282866 110291308 - 111798455 111806925 - 6480464 15489334;14702039;12477932;16344560;20133602;21233288;21900206 144717 F8VRQ6;F8VZK7;F8W0V2;G3V0F1;Q8N4B1 ABBA01019887;AC005805;AK056918;AK093052;AK299344;AMYH01004752;BC014091;BC018996;BC034809;CH471054;CX758147;CX785083;DA707326;DB055268;NG_021347;NM_001177996;NM_001177997;NM_144671 AAH14091;AAH34809;BAB71310;BAC04036;BAG61345;EAW97950;NP_001171467;NP_001171468;NP_653272;Q8N4B1 Hs.173088 1664725 WI-17428 FLJ32356;IPIP27A;SES1 27 kDa inositol polyphosphate phosphatase-interacting protein A;OTTHUMP00000241515;OTTHUMP00000241518;protein FAM109A;sesquipedalian-1 APPROVED protein-coding ENSG00000198324 26509 08127 614239 REVIEWED 1318939 FAM110A family with sequence similarity 110, member A 20 20 20 p13 910641 923209 + 762356 774922 + 814356 826922 + 6480464 17474147;17499476;16344560;15489334;12477932;11780052;20360068;21900206;21988832;23251661 83541 Q9BQ89 AB196290;ABBA01053760;AK314165;AL118502;AL530841;AMYH01011662;BC004222;BC012800;BC022238;BI911808;CH471133;DA915382;DQ431181;NM_001042353;NM_031424;NM_207121 AAH04222;AAH12800;AAH22238;ABD92773;BAD77807;BAG36849;EAX10655;EAX10656;NP_001035812;NP_113612;NP_997004;Q9BQ89 Hs.574822 1689358;1691116;2160285;5094086 G34964;RH67480;RH76710;WI-17015 C20orf55;F10;MGC2450;MGC4675;bA371L19.3 OTTHUMP00000029942;OTTHUMP00000029943;OTTHUMP00000029944;OTTHUMP00000029945;chromosome 20 open reading frame 55;hypothetical protein LOC83541;protein FAM110A protein-coding ENSG00000125898 16188 12775 611393 VALIDATED 1641972 FAM115B family with sequence similarity 115, member B (pseudogene) 7 7 q35 142986141 143015972 + 143295130 143306072 + 6480464 12853948 653199 AACC02000107;AC073264;AMYH01018068;AMYH01018069;CH236959;NG_008224 1643760;1720221;1760731;1857008;2179685 D7S2642;RH123859;RH15814;SHGC-144254;STS-R17001 pseudo 33604 INFERRED 1602464 FAM110D family with sequence similarity 110, member D 1 1 1 p36.11 24882208 24885816 + 26358098 26361706 + 26485511 26489119 + 6480464 16344560;14702039;12477932 79927 Q8TAY7 ABBA01034899;AK024112;AK290715;AL391650;AMYH01000396;AU119858;BC025658;CH471059;NM_024869 AAH25658;BAB14829;BAF83404;EAX07844;NP_079145;Q8TAY7 Hs.694119 FLJ14050;GRRP1;RP11-96L14.5 OTTHUMP00000008763;glycine/arginine rich protein 1;glycine/arginine-rich protein 1;protein FAM110D APPROVED protein-coding ENSG00000197245 25860 07848 VALIDATED 2293906 FAM115D family with sequence similarity 115, member D (pseudogene) 7 7 q35 143497824 143515065 + 143497824 143515065 + 9847074 653691 AACC02000107;AC099548;BG748361;CB046449;CH236959;NG_008025 Hs.632030 1649429;1757589;1786208 SHGC-106890;SHGC-145054;WI-12643 FAM139B pseudo 33603 INFERRED 1606517 FAM111A family with sequence similarity 111, member A 11 11 11 q12.1 56269419 56281613 + 58668828 58679088 + 58910318 58922512 + 6480464 16344560;15489334;14702039;12477932;11572484;19850743;21139048;21906983;23684011;23000965;23093934;22505724 63901 E9PNQ0;E9PR18;Q96PZ2 AB067482;ABBA01021495;AK025319;AK026447;AK092061;AK092237;AK092953;AK130799;AK291453;AMYH01003661;AP001258;BC013137;BC041693;BC054515;BC071759;BQ420366;BU428612;CH471076;CR747277;CR749358;DA502464;DB218857;NM_001142519;NM_001142520;NM_001142521;NM_022074;NM_198847 AAH13137;AAH54515;AAH71759;BAB15486;BAB67788;BAF84142;CAH18211;EAW73834;EAW73835;EAW73836;EAW73837;NP_001135991;NP_001135992;NP_001135993;NP_071357;NP_942144;Q96PZ2 Hs.150651 1732235;1772623;2159819 D11S1809;NIB2064;WI-15462 DKFZp686A06175;FLJ22794;GCLEB;KCS2;KIAA1895 OTTHUMP00000235598;OTTHUMP00000235599;OTTHUMP00000235600;OTTHUMP00000236013;OTTHUMP00000236014;hypothetical protein LOC63901;protein FAM111A protein-coding ENSG00000166801 24725 07015 127000;602361;615292 VALIDATED 1603511 FAM115C family with sequence similarity 115, member C 7 7 7 q35 138603155 138611956 - 143028667 143053107 + 143318045 143427173 + 6480464 14702039;12477932 285966 A6NFQ2;H0YC74;Q8N1I1 AACC02000107;ABBA01000151;AC073264;AC106862;AK090395;AK098041;AK296318;AL832734;AMYH01018046;AMYH01018047;AMYH01018048;AMYH01018049;AMYH01018050;AMYH01018051;AY167570;BC113530;BC117233;CH236959;CH471314;CN479606;DC299572;DC402602;NM_001130025;NM_001130026;NM_173678 A6NFQ2;AAI13531;AAI17234;AAN87343;ACE86678;ACE87363;ADR83345;ADR83386;BAC03376;BAC05220;BAG59014;EAL23793;EAW50491;NP_001123497;NP_001123498;NP_775949 Hs.743565 5021564 G02278 FAM139A;FLJ40722;MGC142090 OTTHUMP00000203463;OTTHUMP00000203466;OTTHUMP00000208854;OTTHUMP00000208855;OTTHUMP00000227963;family with sequence similarity 139, member A;hypothetical protein LOC285966;protein FAM115C protein-coding ENSG00000170379 26878 07117 VALIDATED 1602499 FAM115A family with sequence similarity 115, member A 7 7 7 q35 138206319 138232497 - 143180982 143230105 - 143548461 143599278 - 6480464 15252450;16344560;16713569;16189514;14702039;12477932;9872452;9847074;19615732;16196087;21903422;21987572;21890473;21906983;22505724 9747 B4DST7;C9J648;C9J9F4;C9JD13;C9K0E7;Q9Y4C2 AACC02000107;AB018281;ABBA01000972;AC004742;AC099548;AF086218;AF119896;AK001640;AK291605;AK294312;AK299911;AMYH01018068;AMYH01018069;AMYH01018070;AMYH01018071;AMYH01018072;AMYH01018073;BC000609;BC039457;BU947884;CH236959;CH878732;DA196926;DA317873;DQ786274;NM_001206938;NM_001206941;NM_014719 AAF69650;AAH00609;AAQ96852;AAQ96853;BAA34458;BAF84294;BAG61749;BAH11732;EAW55623;NP_001193867;NP_001193870;NP_055534;Q9Y4C2 Hs.735149;Hs.744048 1643760;1760731;1857008;2176721;2179685 D7S2642;RH15814;SHGC-144254;SHGC-57068;STS-R17001 FLJ56782;KIAA0738 OTTHUMP00000212429;OTTHUMP00000212430;hypothetical protein LOC9747;protein FAM115A protein-coding ENSG00000198420 22201 13813 VALIDATED 1603483 FAM111B family with sequence similarity 111, member B 11 11 11 q12.1 56233756 56253989 + 58631286 58651443 + 58874658 58894888 + 6480464 15489334;12477932;11181995;8889548;21139048;21890473;21906983;22645275 374393 E9PS27;Q6SJ93 ABBA01021495;AK303520;AK304258;AMYH01003661;AP001258;AY457926;BC005998;BC062456;BC130513;BC130539;BC144078;BG613098;BM674379;CH471076;DC353500;NM_001142703;NM_001142704;NM_198947 AAH62456;AAI30514;AAI30540;AAR20839;ADR83393;BAG64548;BAG65124;EAW73833;NP_001136175;NP_001136176;NP_945185;Q6SJ93 Hs.186579 1668726;1737763;2112106;2114260 D11S3360;D11S4753;RH64972;SHGC-33522 CANP OTTHUMP00000235596;OTTHUMP00000235597;OTTHUMP00000236012;cancer-associated nucleoprotein;hypothetical protein LOC374393;protein FAM111B protein-coding ENSG00000189057 24200 07096 VALIDATED 1604587 FAM117A family with sequence similarity 117, member A 17 17 17 q21.33 44242675 44296502 - 45142686 45196517 - 47787687 47841518 - 6480464 15489334;12477932 81558 B7Z7Q3;D6RFX7;D6RJ87;K7ENS5;Q9C073 ABBA01041213;ABBA01041214;ABBA01041215;AC015795;AF123073;AK302376;AMYH01008470;BC037572;BC065199;CH471109;NM_030802 AAH37572;AAH65199;AAK01477;BAH13689;EAW94662;EAW94663;EAW94664;NP_110429;Q9C073 Hs.514308 1336864;1670395;1690256;1759069;1776873;2156427 D17S943;L18203;RH93791;SHGC-2255;STS-AA010209;STS-W37771 C/EBP induced protein;C/EBP-induced protein;OTTHUMP00000220571;OTTHUMP00000220574;family with sequence similarity 117, member A;protein FAM117A protein-coding ENSG00000121104 24179 17432 VALIDATED 1313342 FAM114A2 family with sequence similarity 114, member A2 5 5 5 q31-q33 149446797 149494029 - 153351456 153398690 - 153371263 153418497 - 6480464 10843801;21145461;21832049;16344560;15489334;14702039;12477932;8125298;19322201;21139048 10827 E5RFK2;E5RGF9;E5RH43;E5RHI8;E5RHP2;E5RIK7;E5RK42;E7ESJ7;I6L9D5;Q9NRY5 ABBA01026241;AC010232;AF159700;AK024664;AK095446;AK225821;AK298943;AK303865;AK313331;AMYH01015728;BC011414;BC050701;CH471062;DA351656;NM_018691 AAF76523;AAH11414;AAH50701;BAB14952;BAG36135;BAG53056;BAG61042;BAG64804;EAW61646;EAW61647;EAW61648;NP_061161;Q9NRY5 Hs.166551 2139234 RH18369 133K02;C5orf3 OTTHUMP00000160642;OTTHUMP00000224244;OTTHUMP00000224245;OTTHUMP00000224246;hypothetical protein LOC10827;protein FAM114A2 protein-coding ENSG00000055147 1333 12831 VALIDATED 1606191 FAM114A1 family with sequence similarity 114, member A1 4 4 4 p14 39307544 39385485 + 38545832 38621823 + 38869354 38947365 + 6480464 15489334;14702039;12477932;16344560;17029606;20379614;19913121;20628086;22863883;21139048;21890473 92689 D6R9C9;Q6MZV4;Q8IWE2 ABBA01004115;ABBA01004116;ABBA01004117;AC108044;AK057713;AK094179;AK292831;AK296859;AK304050;AK308959;AMYH01014117;BC001096;BC040452;BC041559;BX640862;CH471069;CS185639;DA802033;NM_138389;NR_033290 AAH01096;AAH40452;BAF85520;BAG52837;BAG59423;BAG64960;CAE45923;CAJ42820;EAW92903;EAW92904;NP_612398;Q8IWE2 Hs.476517 1649953;1695688;1724583;1762641;1766021;2118967;2145764;2145766;2182704;2187271;5022578;5037552 A006G10;D1S1423;D4S3311;D8S2279;G20780;RH121288;SHGC-146446;SHGC-149410;SHGC-50200;SHGC-59565;SHGC-78730;STS-Z41075 FLJ33151;Noxp20 OTTHUMP00000158735;OTTHUMP00000218193;nervous system over expressed protein 20;nervous system over-expressed protein 20;nervous system overexpressed protein 20;protein NOXP20 protein-coding ENSG00000197712 25087 11282 VALIDATED 1317004 FAM117B family with sequence similarity 117, member B 2 2 2 q33.2 197252014 197387230 + 203208456 203342725 + 203499901 203634480 + 6480464 18029348;15146197;14702039;12477932;11586298;23382044;19322201 150864 Q6P1L5;Q7Z3M2 AB053315;ABBA01062581;ABBA01062582;ABBA01062583;ABBA01062584;ABBA01062585;ABBA01062586;ABBA01062587;ABBA01062588;ABBA01062589;AC009960;AC098831;AI523857;AK025007;AK096090;AMYH01011413;AMYH01011414;BC021689;BC065010;BC106906;BC106907;BX537704;CH471063;CN397358;NM_173511 AAH65010;AAI06907;AAI06908;AAX76518;AAY24090;BAB69023;BAC04700;CAD97817;EAW70311;EAW70312;NP_775782;Q6P1L5 Hs.471130 1697308;1728755;1728877;1746313;1776071;1776073;2218722;5020944 AF044685;ALS2CR13__4285;G54491;G54492;G64430;RH102151;RH16624;SHGC-33812 ALS2CR13;DKFZp686H01244;FLJ38771 OTTHUMP00000206000;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein;hypothetical protein LOC150864;protein FAM117B protein-coding ENSG00000138439 14440 12445 VALIDATED 1345510 FAM118A family with sequence similarity 118, member A 22 22 22 q13 29616648 29649238 + 44083745 44116500 + 45705081 45737836 + 737633;6480464 12477932 16344560;15489334;15461802;14702039;10591208;19680542 55007 B0QY26;B0QY27;B0QY28;B0QY29;B4DY02;Q9NWS6 ABBA01007136;AK000642;AK026239;AK125027;AK302205;AL008718;AMYH01012849;AW206534;BC013696;BQ022265;CB961784;CH471138;CR456403;DB153788;DB459223;NM_001104595;NM_017911 AAH13696;BAA91301;BAG54126;BAG63564;CAG30289;EAW73378;EAW73379;EAW73380;NP_001098065;NP_060381;Q9NWS6 Hs.265018 1337292;1647362;1652173;1661151;1676502;1699612;1759427;2162229 D22S1141;G27434;RH103408;RH71148;RH98789;SHGC-150955;STS-T70324;WI-20637 C22orf8;FLJ20635 OTTHUMP00000199853;OTTHUMP00000199854;bK268H5.C22.4;hypothetical protein LOC55007;protein FAM118A protein-coding ENSG00000100376 1313 07936 VALIDATED 1603013 FAM118B family with sequence similarity 118, member B 11 11 11 q24.2 123246927 123297903 + 125586829 125637751 + 126081619 126132879 + 6480464 12477932;17207965;16169070;16712791;8125298;21900206;21139048;21906983 79607 E9PIM5;E9PMJ2;E9PMW3;G3V179;J3KP39;Q9BPY3 ABBA01031226;ABBA01031227;ABBA01031228;ABBA01031229;AK024756;AK225081;AK315615;AMYH01004111;AP000717;AP001318;AP001893;BC001340;BC001647;BF448999;CB141933;CH471065;CR457334;NG_017156;NM_024556 AAH01340;AAH01647;ADQ32755;BAB14987;CAG33615;EAW67677;EAW67678;EAW67679;EAW67680;NP_078832;Q9BPY3 Hs.276315 1298323;1700242;1706304;1725575;2121376;2129825;2139852;2155695;2164674;2164676;2177408;7186273 A006D25;A007K32;D11S4607;D11S4694;D11S934;G20723;G62012;RH103738;RH18082;SHGC-80709;WI-20438 FLJ21103 OTTHUMP00000231048;OTTHUMP00000231049;OTTHUMP00000231050;OTTHUMP00000231105;hypothetical protein LOC79607;protein FAM118B protein-coding ENSG00000197798 26110 07952 VALIDATED 1349056 FAM120AOS family with sequence similarity 120A opposite strand 9 9 9 q22.31 66650228 66657322 - 95248603 95255695 - 96208782 96215874 - 6480464 14702039;14585507;12477932;19322201 158293 E5RJ17;E9PCY8;Q5T036;Q5T040 ABBA01018612;ABBA01018613;AK056096;AK093641;AK309269;AL353629;AL583839;AMYH01021514;AMYH01021515;BC037551;BC038803;BC046183;BC063650;BC080634;BC107135;BC107136;BC113074;CH471089;NM_198841 AAI60143;BAG51623;EAW62862;NP_942138;Q5T036 Hs.350364;Hs.709859 1661653;1664934;1735864;2167717 A004Y35;D9S992E;RH18179;SHGC-31180 C9orf10OS;FLJ31534 OTTHUMP00000021679;putative FAM120A opposite strand protein protein-coding ENSG00000188938 23389 12931 VALIDATED 1321149 FAM122A family with sequence similarity 122A 9 9 9 q21.11 41990151 41993796 + 70584784 70588429 + 71394964 71398609 + 737633;6480464 12477932 17207965;17081983;15489334;15164053;14702039;12107410;20383146;21832049;19156129;21044950 116224 B3KX07;Q96E09 AA418448;ABBA01033794;AK126379;AL354794;AMYH01021383;BC013062;BE778779;BI757526;CA390009;CD517474;CH471089;H54102;NM_138333 AAH13062;ADQ31865;BAG54319;EAW62468;NP_612206;Q96E09 Hs.655572 1663832;1722311;1773960;5093462 A009P17;G32732;G60071;WIAF-1634 C9orf42;MGC17347 OTTHUMP00000021421;hypothetical protein LOC116224;protein FAM122A protein-coding ENSG00000187866 23490 10074 VALIDATED 1321130 FAM120B family with sequence similarity 120B 6 6 6 q27 171413409 171510239 + 170457769 170556162 + 170615844 170714237 + 6480464 17595322;17353931;16189514;14702039;14585507;12477932;21145461;11347906;20379614;21980299;21890473;22797925 84498 B4DL34;F2Z2E1;F5GY05;F5GZX9;Q96EK7 AB058741;ABBA01030855;ABBA01030856;AK056435;AK294415;AK296730;AK296825;AK299890;AL008628;AL078605;AL832883;AMYH01016887;AY266458;BC012177;CH471051;DQ873695;NM_032448 AAH12177;AAP31032;ABH09086;BAB47467;BAG57665;BAG59317;BAG59396;BAG61736;EAW47424;NP_115824;Q96EK7 Hs.369522 1645547;1652827;1661274;1687269;1695194;1785942;2111121;2128977;2168130 AL031508;D6S1244E;D6S1330;D6S1887;D6S374E;G48238;RH79752;SHGC-144156;WIAF-2186 CCPG;FLJ55614;KIAA0183;KIAA1838;PGCC1;dJ894D12.1 OTTHUMP00000017693;OTTHUMP00000017694;PPARG constitutive coactivator 1;PPARgamma constitutive coactivator 1;constitutive coactivator of PPAR-gamma;constitutive coactivator of PPARG;constitutive coactivator of peroxisome proliferator-activated receptor gamma protein-coding ENSG00000112584 21109 11165 612266 PROVISIONAL 1603035 FAM120C family with sequence similarity 120C This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X p11.22 57925992 58040942 - 54111482 54226439 - 54094757 54209714 - 6480464 14702039;18498374;15489334;14585507;12477932;17000644;16009940 54954 F8W881;Q9NX05 ABBA01069665;ABBA01069666;ABBA01069667;ABBA01069668;ABBA01069669;ABBA01069670;ABBA01069671;ABBA01069672;ABBA01069673;ABBA01069674;ABBA01069675;ABBA01069676;ABBA01069677;ABBA01069678;ABBA01069679;ABBA01069680;ABBA01069681;ABBA01069682;ABBA01069683;ABBA01069684;ABBA01069685;AK000513;AK125664;AL589872;AMYH01022429;AMYH01022430;AY121803;AY150025;BC016138;BC073166;BC081532;BC136413;BC144081;BQ270974;NG_021316;NM_017848;NM_198456;Z84469 AAH16138;AAH81532;AAI36414;AAM82751;AAO24121;BAA91219;NP_060318;NP_940858;Q9NX05 Hs.86045 1338983;1773176;7186468 AL031093;DXS1204 CXorf17;FLJ20506;FLJ43676;ORF34 OTTHUMP00000023368;OTTHUMP00000214810;OTTHUMP00000214811;constitutive coactivator of PPAR-gamma-like protein 2;tumor antigen BJ-HCC-21 APPROVED protein-coding ENSG00000184083 16949 06480 300741 REVIEWED 1315374 FAM120A family with sequence similarity 120A 9 9 9 q22.31 66655621 66769844 + 95253994 95368218 + 96214173 96328397 + 6480464 19015244;17081983;16964243;15782174;15592455;15489334;15164053;14702039;14585507;12477932;9110174;8889548;8724849;21145461;8619474;20379614;18029348;20360068;21139048;21890473;21906983;21628590;22586326;22952844 23196 H7C0T0;Q86V69 ABBA01018613;ABBA01018614;AF055017;AF214737;AF214738;AK091785;AK096349;AL353629;AMYH01021515;AY266457;AY450389;AY450393;BC007879;BC034935;BC075701;BC098584;BC111736;BX326996;CA419293;CB989774;CD110412;CF135376;CH471089;D80005;NM_014612 AAC09364;AAF72866;AAF72867;AAH07879;AAH98584;AAI11737;AAP31031;AAR21082;AAR21086;BAA11500;EAW62863;EAW62864;EAW62865;EAW62866;NP_055427;Q9NZB2 Hs.372003;Hs.707324;Hs.738743 1341914;1644099;1681696;1722697;1728763;1728779;1728865;1735888;1735904;1762947;1763137;1765877;1771137;2150398;2158975;5037552;5096686 D3S3819;D8S2279;D9S1006E;D9S1045E;D9S197;G54484;G54485;G54486;G60433;RH25397;RH94022;SHGC-146700;SHGC-146868;SHGC-149296;SHGC-54640;WI-15517;WI-22276 C9orf10;DNAPTP1;DNAPTP5;MGC111527;MGC133257;OSSA DNA polymerase-transactivated protein 1;DNA polymerase-transactivated protein 5;OTTHUMP00000021683;constitutive coactivator of PPAR-gamma-like protein 1;oxidative stess-associated Src activator;oxidative stress-associated Src activator protein-coding ENSG00000048828 13247 12928 612265 VALIDATED 1602681 FAM124B family with sequence similarity 124B 2 2 2 q36.2 219009190 219032486 - 224951659 224974955 - 225243415 225266711 - 6480464 16189514;12477932;19447967;17207965;19060904;23285124 79843 Q9H5Z6 ABBA01023770;ABBA01023771;ABBA01023772;AC008072;AK026399;AK075126;AMYH01011525;BC025754;CH471063;NM_001122779;NM_024785 AAH25754;AAY14842;ADQ31647;BAB15471;EAW70826;EAW70827;NP_001116251;NP_079061;Q9H5Z6 Hs.147585 FLJ22746 OTTHUMP00000164220;OTTHUMP00000203758;OTTHUMP00000203759;hypothetical protein LOC79843;protein FAM124B protein-coding ENSG00000124019 26224 08663 VALIDATED 1605855 FAM122B family with sequence similarity 122B X X X q26.3 134290355 134318021 - 133731262 133758378 - 133903596 133931262 - 6480464 18029348;16964243;16381901;15772651;15489336;15489334;14702039;12477932;11230166;11076863;15146197;19615732;19471022;22127701 159090 B4DN12;G1UD80;Q7Z309 AA976209;AB541014;AB541015;ABBA01042481;ABBA01042482;ABBA01042483;ABBA01042484;ABBA01042485;ABBA01042486;AK026809;AK124650;AK124940;AK125991;AK292517;AK297720;AL672032;AL691477;AL832218;AMYH01022995;BC019221;BC032419;BC110846;BX538218;CH471107;CN303065;CN419432;NG_016348;NM_001166599;NM_001166600;NM_001170756;NM_001170757;NM_145284 AAH19221;AAH32419;AAI10847;BAC85918;BAC85999;BAC86380;BAF85206;BAG60074;BAK74736;BAK74737;CAD98073;CAL38157;EAX11749;EAX11750;EAX11751;EAX11752;EAX11753;EAX11754;EAX11755;NP_001160071;NP_001160072;NP_001164227;NP_001164228;NP_660327;Q7Z309 Hs.404706 1702600;1748199;1854888;1858126 DXS6848;G66698;RH46423;SHGC-7545 DKFZp686L20116;MGC131814;RP11-308B5.5;SPACIA2 OTTHUMP00000024067;OTTHUMP00000215087;family with sequence similarity 122B;protein FAM122B;synoviocyte proliferation associated in collagen-induced arthritis 2 protein-coding ENSG00000156504 30490 06614 VALIDATED 1602826 FAM124A family with sequence similarity 124A 13 13 13 q14.3 32845687 32904794 + 50694508 50753617 + 51796470 51858377 + 6480464 12975309;16189514;14702039;12477932;20379614;8889548 220108 Q6UXW9;Q86V42 ABBA01051045;ABBA01051046;AK055269;AK056643;AK096364;AL157817;AMYH01005115;AY358177;BC034497;BC051771;BG771560;BM931534;BX109426;CH471075;DB549067;NM_001242312;NM_145019 AAH34497;AAH51771;AAQ88544;ADZ15863;BAB70894;BAC04769;EAX08867;EAX08868;NP_001229241;NP_659456;Q86V42 Hs.71913;Hs.737490 1708586;1730938;1731667;1854935;2111342;2111660;2137486;2138726;2170306;5037552 D13S1583;D13S228;D13S295;D13S819E;D8S2279;RH47337;RH48284;RH48338;SHGC-85082;WI-14347 FLJ30707;FLJ32081 OTTHUMP00000018438;OTTHUMP00000178643;hypothetical protein LOC220108;protein FAM124A protein-coding ENSG00000150510 26413 08704 VALIDATED 1605854 FAM122C family with sequence similarity 122C X X X q26.3 134317202 134375405 + 133768890 133816282 + 133930443 133988641 + 6480464 15772651;15489334;12477932;14702039;17207965;22118674 159091 B3KQY3;B4DI96;Q6P187;Q6P4D5 ABBA01042486;ABBA01042487;ABBA01042488;ABBA01042489;ABBA01042490;ABBA01042491;ABBA01042492;ABBA01042493;ABBA01042494;AK090611;AK130840;AK295485;AK307219;AK310079;AL691477;AMYH01022995;AMYH01022996;AW269988;BC016784;BC017868;BC063491;BC065225;BG532414;CH471107;DB458889;NG_016383;NM_001170779;NM_001170780;NM_001170781;NM_001170782;NM_001170783;NM_001170784;NM_138819;Z83826 AAH17868;AAH63491;AAH65225;ADQ32539;BAG52195;BAG58408;EAX11745;EAX11746;EAX11747;EAX11748;NP_001164250;NP_001164251;NP_001164252;NP_001164253;NP_001164254;NP_001164255;NP_620174;Q6P4D5 Hs.269127 1689955;1691546;1702786;1854888;2147092;2184671;5016596;5020274;5022578;5037552 AF026403;AL032561;D1S1423;D8S2279;DXS901;GDB:631802;L18441;RH92636;SHGC-37643;SHGC-7545 RP3-473B4.1 OTTHUMP00000024325;hypothetical protein LOC159091;protein FAM122C protein-coding ENSG00000156500 25202 06615 VALIDATED 1604676 FAM127C family with sequence similarity 127, member C X X X q26.3 134541355 134543387 - 133982200 133984232 - 134154534 134156566 - 6480464 16093683;15716091;12477932;9403077;21890473 441518 Q17RB0 ABBA01042517;AI569106;AK098443;AL136169;AMYH01022997;BC048268;BC063496;BC073159;BC086860;BC113720;BC117393;DB490903;NM_001078173 AAI13721;AAI17394;ADR82807;NP_001071641;Q17RB0 Hs.378813 5493429 UniSTS:486192 CXX1c;FLJ25577;MAR8B OTTHUMP00000195547;family with sequence similarity 127, member C;mammalian retrotransposon derived protein 8B;protein FAM127C protein-coding ENSG00000212747 33156 VALIDATED 1605824 FAM126B family with sequence similarity 126, member B 2 2 2 q33.1 195593067 195691017 - 201552032 201644637 - 201838441 201936392 - 6480464 11256614;15489334;15302935;14702039;12477932;21832049 285172 B3KUG1;C9J115;C9JNS4;C9JTA1;F8W7X4;Q8IXS8 ABBA01062527;ABBA01062528;ABBA01062529;ABBA01062530;AC005037;AC007272;AK001843;AK027168;AK095236;AK097111;AK124184;AK124937;AK315104;AL832234;AL832346;AL833403;AMYH01011400;AMYH01011401;BC039295;BC045174;CH471063;NM_173822 AAH39295;AAX88971;AAY14726;ABM82448;ABM85638;BAG37564;BAG53423;BAG54019;EAW70230;EAW70231;EAW70232;NP_776183;Q8IXS8 Hs.24701 1337331;1697326;1728875;1784254;1853794;2158826;2176200;5015961;5037552 D15S1477;D2S309;D8S2279;G54453;RH102160;RH36550;SHGC-172001;SHGC-32390;WI-16424 FLJ10981;FLJ37917;FLJ42947;HYCC2;MGC39518 OTTHUMP00000163723;OTTHUMP00000206416;hypothetical protein LOC285172;protein FAM126B protein-coding 28593 11345 VALIDATED 1606763 FAM126A family with sequence similarity 126, member A The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008] 7 7 7 p15.3 22967200 23040064 - 22949783 23020273 - 22980878 23053770 - 6480464;7240710 10910037;17928815;16951682;16344560;15489334;14702039;12853948;12690205;12477932;20301737;21911699;21254220;18029348;22749724 84668 B8ZZA2;B8ZZJ1;H7C0W7;Q9BYI3 AA811006;AACC02000007;AB030241;ABBA01056699;AC005682;AC006039;AK054887;AK056319;AK057686;AK297399;AL833296;AMYH01017110;BC018710;BX640757;CH236948;CH471073;DB099987;NG_008392;NM_032581 AAH18710;AAS01991;AAS07519;ABM82624;ABM86267;BAB39849;BAB70823;BAB71148;BAG59839;CAE45864;EAL24262;EAW93767;EAW93768;NP_115970;Q9BYI3 Hs.85603 1298314;1670839;1671396;1675385;1676544;1677238;1752415;1760229;1855594;2137861;2143930;2145552;2157468;2157470 A005A03;D17S1308;D17S695;D7S732;G20254;RH45328;RH91850;RH93616;RH94305;SHGC-106385;SHGC-132520;SHGC-34206;SHGC-36561;STS-H44951 DRCTNNB1A;HCC;HLD5;HYCC1 OTTHUMP00000158548;OTTHUMP00000202016;OTTHUMP00000202017;down regulated by Ctnnb1, a;down-regulated by CTNNB1 protein A;hyccin APPROVED protein-coding ENSG00000122591 24587 16837 610531;610532 REVIEWED 1354377 FAM127A family with sequence similarity 127, member A X X X q26 134553154 134554397 + 133993999 133995242 + 134166333 134167576 + 1580863;6480464 16713569;16093683;15772651;15716091;15489334;12477932;9403077;9110174;8619474;21832049;20972266;21139048;21890473;21906983;21987572 8933 A6ZKI3;O15255 ABBA01042517;AF038168;AF052096;AL136169;AMYH01022997;BC002385;BC002410;BC106076;CD367165;CH471107;CR456853;CX784259;D88756;NM_001078171;Y13374 A6ZKI3;AAB97361;AAC28618;AAH02385;AAH02410;ABM82310;ABW03433;BAB46920;CAA73804;CAG33134;EAX11739;NP_001071639 Hs.522789 1646514;1681265;5126735 A002L20;Cda0xg09;DXS7503 CXX1;MAR8C;MART8C;MGC117411;Mar8;Mart8 CAAX box 1;OTTHUMP00000024068;family with sequence similarity 127, member A;mammalian retrotransposon derived protein 8C;protein FAM127A protein-coding ENSG00000134590 2569 02197 300213 VALIDATED 1603403 FAM127B family with sequence similarity 127, member B X X X q26.3 134571781 134573040 - 134012628 134013887 - 134184962 134186221 - 6480464 16189514;16093683;15716091;15146197;12477932;9403077;16169070;21832049;21139048;21890473;21906983 26071 Q6IPB9;Q9BWD3 ABBA01042519;ABBA01042520;AL117556;AL136169;AMYH01022997;BC000393;BC008096;BC019300;BC071991;BM050811;BU161376;CN367136;CR457123;CR542228;NM_001078172;NM_001134321 AAH00393;AAH19300;AAH71991;CAG33404;CAG47024;NP_001071640;NP_001127793;Q9BWD3 Hs.460924 1668734;1690534;2177732 RH93898;STS-T83641;STS-W87391 CXX1b;DKFZp564B147;MAR8A;MGC8471 OTTHUMP00000195548;family with sequence similarity 127, member B;mammalian retrotransposon derived protein 8A;protein FAM127B protein-coding ENSG00000203950 24514 06485 VALIDATED 1315963 FAM129B family with sequence similarity 129, member B 9 9 9 q34.13 100918505 100992132 - 129307439 129381089 - 130267618 130341268 - 737633;6480464 12477932 17081983;16964243;16083285;15489334;15302935;14702039;19362540;19615732;21148485;22863883;22939629;21139048;21890473;21906983;20360068;21252943 64855 Q96TA1 AB210016;ABBA01043833;ABBA01043834;ABBA01043835;ABBA01043836;AF151783;AF192911;AK023580;AK025804;AK025951;AL137555;AL390116;AL445222;AMYH01021728;AMYH01021729;AMYH01021730;BC001979;BC018849;BC023210;BC067366;BC110345;BM557756;BX280720;CH471090;NM_001035534;NM_022833 AAH01979;AAI10346;AAK57556;AAQ13825;BAB14615;BAB15240;BAE06098;CAB70809;EAW87675;EAW87676;EAW87677;EAW87678;NP_001030611;NP_073744;Q96TA1 Hs.522401 1723409;1758597;1787010;2144192;2147234 RH118517;RH36266;SHGC-148897;SHGC-149487;WIAF-2190 C9orf88;DKFZP434H0820;FLJ13518;FLJ22151;FLJ22298;MEG-3;MINERVA;OC58;bA356B19.6 OTTHUMP00000022187;OTTHUMP00000022188;melanoma invasion by ERK;niban-like protein 1 protein-coding ENSG00000136830 25282 10804 614045 VALIDATED 736616 FAM129A family with sequence similarity 129, member A 1 1 1 q25 157871147 158054385 - 183026789 183210305 - 184760166 184943682 - 6480464 16949643;19240061;16710414;16444351;15489334;15085203;14702039;12477932;11318611;11011112;21520112;18029348;19536772;22863883;21890473;21906983;22157935;23251661 116496 H0Y7M9;Q9BZQ8 AB050477;ABBA01027728;ABBA01027729;AF288391;AK022527;AK074139;AK095547;AK310557;AK311019;AL096819;AL109865;AL109956;AL136086;AL137572;AMYH01001557;AMYH01001558;AMYH01001559;AMYH01001560;AMYH01001561;AY550972;BC018532;BC030531;CH471067;DC346827;GN344057;NM_052966 AAG60611;AAH30531;AAT52218;BAB14079;BAB17230;BAB84965;CAY55964;EAW91184;EAW91185;NP_443198;Q9BZQ8 Hs.518662 1669923;1692714;1693814;1775695;1779003;2112368;2135851;2184622;5117897 AL009385;AL034118;D1S2525;D1S3635;GDB:631813;RH46175;SHGC-24127;SHGC-56415;SHGC-76048 C1orf24;FLJ38228;GIG39;NIBAN OTTHUMP00000033399;cell growth inhibiting protein 39;cell growth-inhibiting gene 39 protein;niban protein;protein Niban protein-coding ENSG00000135842 16784 10725 VALIDATED 1604724 FAM129C family with sequence similarity 129, member C 19 19 19 p13.11 17535726 17566244 + 17495110 17525648 + 17634110 17664648 + 14702039;12886250;12477932 199786 B4DNU3;C9JBY5;M0QX95;M0QXK3;M0QZV9;M0R0A8;M0R0E0;Q86XR2 AA649002;ABBA01051209;ABBA01051210;ABBA01051211;AC010618;AI688885;AK074069;AK097121;AK298062;AK300046;AK301159;AMYH01009575;AY254197;AY254198;AY254199;BC033225;BC053606;CH471106;NM_001098524;NM_173544 AAH53606;AAI67806;AAO83574;AAO83575;AAO83576;BAB84895;BAC04955;BAG60355;BAG61856;BAG62749;EAW84615;EAW84616;EAW84617;EAW84618;EAW84619;EAW84620;NP_001091994;NP_775815;Q86XR2 Hs.434133 1340815;1670011;2176058;5015861;5015961;5017433;5020946;7185938 D10S16;D15S1477;D19S429;D19S710;L17971;SHGC-58046;STS-T76997 BCNP1;FLJ39802 B-cell novel protein 1;niban-like protein 2 protein-coding ENSG00000167483 24130 16546 609967 VALIDATED 1606725 FAM131A family with sequence similarity 131, member A 3 3 3 q27.1 182494613 182504962 + 185540952 185546757 + 184053717 184064063 + 6480464 15489334;14702039;12975309;12477932;16169070;19322201 131408 C9JP51;C9JPT9;C9JY59;Q6UXB0 ABBA01058446;ABBA01058447;ABBA01058448;AC078797;AK024378;AMYH01013718;AY358435;BC026221;BC037299;CA416923;CH471052;DB472337;DB472892;NM_001171093;NM_144635;T74148 AAH26221;AAH37299;AAQ88801;EAW78251;EAW78252;EAW78253;EAW78254;EAW78255;EAW78256;NP_001164564;NP_653236;Q6UXB0 Hs.591307 1671404;1676876;1699826;1777236;2122661;2130023;2134050;2173309;2217302;2217864;5015619;5015861;5020414;5024272;5024761;5037552;5109281;7185938 A001Y48;D10S16;D11S3114;D1S1425;D2S1254;D8S2279;EIF4G1_3109;HSC2IC072;L17688;PSMD2_2761;RH103520;RH36905;RH68199;RH79680;SHGC-77635;STS-Z40751;WI-11757 C3orf40;FLAT715;MGC21688;PRO1378 OTTHUMP00000209469;OTTHUMP00000209471;OTTHUMP00000209472;OTTHUMP00000209473;OTTHUMP00000209474;OTTHUMP00000209475;OTTHUMP00000210576;hypothetical protein LOC131408;protein FAM131A protein-coding ENSG00000175182 28308 14481 VALIDATED 1605421 FAM131B family with sequence similarity 131, member B 7 7 7 q34 137887354 137896064 - 142760615 142769967 - 143050493 143059840 - 6480464 16344560;15489334;12853948;12477932;9872452;20379614;21044950 9715 E5RI17;E5RJ60;H0Y3V6;Q86T97 AACC02000107;AB018316;ABBA01034135;AC093673;AK124557;AK291470;AL832579;AMYH01018007;BC045611;BC050543;CH236959;CH471198;DA226407;DA334424;NM_001031690;NM_001278297;NM_014690 AAH45611;AAH50543;AAS07501;BAA34493;BAF84159;CAD89938;EAL23787;EAW51853;EAW51854;EAW51855;EAW51856;EAW51857;NP_001026860;NP_001265226;NP_055505;Q86XD5 Hs.648908 2141794;5037744 D1S3694;RH46942 KIAA0773 OTTHUMP00000202226;OTTHUMP00000202492;OTTHUMP00000202493;OTTHUMP00000202494;OTTHUMP00000202495;OTTHUMP00000202496;hypothetical protein LOC9715;protein FAM131B protein-coding ENSG00000159784 22202 13816 VALIDATED 1603827 FAM132A family with sequence similarity 132, member A 1 1 1 p36.33 1400244 1405607 + 1167696 1171965 - 1177826 1182102 - 6480464 12477932;22942287;21849507;22736092 388581 Q5T7M4 ABBA01155188;AL162741;AMYH01000118;AMYH01000119;AMYH01000120;AW873053;BC089443;NM_001014980 AAH89443;NP_001014980;Q5T7M4 Hs.197613 Adipolin;C1QDC2;C1QTNF12;CTRP12;MGC105127 C1q domain containing 2;C1q/TNF-related protein 12;OTTHUMP00000001516;adipolin;adipose-derived insulin-sensitizing factor;family with sequence similarity 132, member A;hypothetical protein LOC388581;protein FAM132A protein-coding ENSG00000184163 32308 VALIDATED 6767493 FAM133CP family with sequence similarity 133, member C, pseudogene 10 q21.1 60474775 60477294 + 728640 AA447601;ABBA01019443;AC012168;AMYH01002766;BF063750;BQ023168;BX280179;NG_029759;NR_027508 Hs.729209 2180925 RH77835 pseudo 44190 VALIDATED 1606147 FAM132B family with sequence similarity 132, member B 2 2 2 q37.3 232785225 232790057 + 238734413 238740434 + 239069674 239075695 + 6480464 22351773;14702039;12477932 151176 H0Y2X4;H7BY19;Q4G0M1 AC016757;AK094353;BC031951;BC047423;BC063413;XM_001714385 AAH47423;AAY24335;BAC04336;Q4G0M1;XP_001714437 Hs.24951;Hs.742300 2183573 RH15892 C1QTNF15;CTRP15;FLJ37034 complement C1q tumor necrosis factor-related protein 15;hypothetical protein LOC151176;myonectin;protein FAM132B protein-coding 26727 615099 MODEL 1606931 FAM133B family with sequence similarity 133, member B 7 7 7 q21.2 86894604 86924236 - 92028008 92057642 - 92190072 92219706 - 6480464 16381901;15489336;12690205;12477932;11230166;11076863;21832049 257415 C9JUX2;G3XAI9;H0YH72;Q5BKY9 AACC02000014;ABBA01045801;AC005156;AK125498;AK313692;AL833918;AMYH01017691;BC017874;BC032461;BC057771;BC062706;BC073952;BC090868;BC157872;BU581457;CH236949;CH471091;NM_001040057;NM_152789 AAH17874;AAH32461;AAH57771;AAH62706;AAH90868;AAI57873;BAG36441;BAG54207;CAD38774;CAL37870;CAL38741;EAL24147;EAW76831;EAW76832;EAW76833;EAW76834;EAW76835;EAW76836;NP_001035146;NP_690002;Q5BKY9 Hs.18564;Hs.470311;Hs.489105 1645844;1768106;2119119;2149467;5091563 D17S1560;G31807;G37002;G37003;WI-17941 MGC40405 OTTHUMP00000208822;OTTHUMP00000208865;OTTHUMP00000208866;hypothetical protein LOC257415;protein FAM133B protein-coding ENSG00000234545 28629 17557 VALIDATED 1602817 FAM133A family with sequence similarity 133, member A X X X q21.32 93454260 93492515 + 92815861 92853917 + 92929012 92967273 + 6480464 14702039;12477932;16344560 286499 Q8N9E0 ABBA01064909;ABBA01064910;ABBA01064911;ABBA01064912;ABBA01064913;AK094978;AL009173;AMYH01022689;BC113385;BC113387;CH471115;DA188870;DA230927;DA297338;DA414074;DB084469;NG_016400;NM_001171109;NM_001171110;NM_001171111;NM_173698 AAI13386;AAI13388;ADR83353;BAC04467;EAX02783;NP_001164580;NP_001164581;NP_001164582;NP_775969;Q8N9E0 Hs.110069 1687646;5493327 RH94163;UniSTS:485734 CT115;FLJ37659;RP1-32F7.2 OTTHUMP00000023646;cancer/testis antigen 115;hypothetical protein LOC286499;protein FAM133A protein-coding ENSG00000179083 26748 06562 VALIDATED 1606908 FAM131C family with sequence similarity 131, member C 1 1 1 p36.13 14864163 14877593 - 16256851 16272714 - 16384264 16400127 - 6480464 16710414;16344560;16189514;15489334;14702039;12477932;19734545;17207965;21832049;22623531 348487 Q96AQ9 ABBA01004682;ABBA01004683;AK094085;AL355994;AL529663;AMYH01000278;AMYH01000279;BC016848;BC037394;BG751253;CH471167;DA112406;NM_182623 AAH16848;AAH37394;ADQ31622;BAC04282;EAW51767;EAW51768;NP_872429;Q96AQ9 Hs.126825 1766417 SHGC-149757 C1orf117;FLJ36766;RP11-5P18.9 OTTHUMP00000011116;hypothetical protein LOC348487;protein FAM131C protein-coding ENSG00000185519 26717 08779 VALIDATED 6770282 FAM133DP family with sequence similarity 133, member D, pseudogene 2 q24.1 158234999 158237021 - 12477932 728066 AA844199;ABBA01004845;AC019201;AMYH01011196;NR_034169;T77355 Hs.470311 5091563 D17S1560 pseudo 44192 PROVISIONAL 1345211 FAM136BP family with sequence similarity 136, member B, pseudogene 6 6 6 p25.2 4274644 4275060 + 3045618 3046034 + 3045618 3046034 + 20877624 387071 ABBA01048622;AL031963;AMYH01016029;CH471087;NG_028136 EAW55113 C6orf87;FAM136B;dJ40E16.3 hypothetical protein LOC387071 APPROVED pseudo 21110 INFERRED 2303654 FAM138A family with sequence similarity 138, member A 1 1 p36.33 34611 36081 - 34611 36081 - 16710414;15815621;15233989;15164053;15057824;11779631 645520 Q6VEP3 AL627309;AY341950;NR_026818 AAQ76863;Q6VEP3 Hs.569137 5020617 G65650 F379 miscrna ENSG00000237613 32334 VALIDATED 2303666 FAM138B family with sequence similarity 138, member B 2 2 q14.1 114334959 114336429 + 114334959 114336429 + 15233989;12421752;11779631 654412 Q6VEP3 AF346307;AL078621;AMYH01010967;AY341948;NR_026821 AAM93543;AAQ76861;Q6VEP3 Hs.640260 5020617 G65650 F379;bA395L14.6 miscrna ENSG00000226516 33582 VALIDATED 2303658 FAM138C family with sequence similarity 138, member C 9 9 p24.3 34394 35864 - 34394 35864 - 15233989;11779631 654835 A2A3T8;Q6VEP3 AL449043;AY341949;AY341953;NR_026822 AAQ76862;AAQ76866;Q6VEP3 Hs.569137;Hs.640260;Hs.744304 5020617 G65650 F379 miscrna 32333 VALIDATED 2303678 FAM138D family with sequence similarity 138, member D 12 12 p13.33 147946 149412 - 147946 149412 - 15233989;11779631 677784 Q6VEP2 ABBA01001209;AC026369;AMYH01004161;AY341951;NR_026823 AAQ76864;Q6VEP2 Hs.722487 5020617 G65650 F379 miscrna ENSG00000206114 33583 PREDICTED 1601869 FAM134B family with sequence similarity 134, member B The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 5 5 5 p15.1 16496766 16640783 - 16526147 16670118 - 16473147 16617167 - 6480464;7240710 17487424;12477932;8125298;19838196;20379614;17207965;21127458;16344560;21089229;21115472;21832049 54463 H0Y9U4;Q9H6L5 ABBA01020658;ABBA01020659;ABBA01020660;ABBA01020661;ABBA01020662;ABBA01020663;ABBA01020664;ABBA01020665;AC020980;AC022113;AI261750;AK000159;AK024920;AK025808;AK025832;AK225371;AL832438;AMYH01014931;BC020603;BC030517;BC053326;BC073132;BG430512;BG722905;CH471102;CR994722;DA136983;NG_016644;NM_001034850;NM_019000 AAH30517;AAH53326;AAH73132;ADQ32021;BAA90982;BAB15034;BAB15241;BAB15252;CAH10610;EAX08022;EAX08023;NP_001030022;NP_061873;Q9H6L5 Hs.481704 1696326;1709626;1774204;1856210;2133268;2146042 D5S2532;D5S2685;RH47732;SHGC-77754;SHGC-85175;STS-N47332 FLJ20152;FLJ22155;FLJ22179;JK-1;JK1 FAM134B protein;OTTHUMP00000220738;OTTHUMP00000220739;protein FAM134B APPROVED protein-coding ENSG00000154153 25964 07879 613114;613115 REVIEWED 2303669 FAM138E family with sequence similarity 138, member E 15 15 q26.3 102495088 102496558 + 102495088 102496558 + 15233989;11779631 100124412 AC140725;AF282042;AMYH01006975;NR_026819 Hs.569137 F379 miscrna ENSG00000248893 32335 VALIDATED 1601713 FAM134C family with sequence similarity 134, member C 17 17 17 q21.2 37387436 37417341 - 37985059 38014928 - 40731526 40761445 - 6480464 16344560;14702039;12477932;8125298;7490091;17207965;21139048;21890473;19322201 162427 B3KR75;K7EJ34;K7EJ42;K7ELM8;K7EMF4;K7ENF4;K7ENZ6;K7EPD0;K7EQI9;Q86VR2 ABBA01006419;ABBA01006420;AC067852;AI307353;AK057409;AK091125;AK225797;AK294791;AK308288;AMYH01008395;BC024980;BC049370;BX647175;BX648069;CH471152;DB289370;L38937;NM_178126;NR_026697 AAH49370;ADQ32494;BAG52287;BAG57914;EAW60851;EAW60852;NP_835227;Q86VR2 Hs.632262 1705922;1722437;1849224;2121658;2139507;2191273;5014029 A005R24;D13S1639;D17S1344;G60293;MARC_17007-17008:1020868174:1;RH78087;SHGC-78090 FLJ33806 hypothetical protein LOC162427;protein FAM134C protein-coding ENSG00000141699 27258 14108 VALIDATED 1315689 FAM134A family with sequence similarity 134, member A 2 2 2 q35 213812655 213819914 + 219751198 219756456 + 220042939 220050197 + 6480464 17081983;16303743;16169070;15489334;14702039;12477932;11230166;19212629;20360068;21900206 79137 C9J3K5;C9JIF3;F8WAL5;F8WE68;H7C3D5;Q8NC44 ABBA01023851;AC068946;AK026155;AK074983;AK091011;AL136758;AL832843;AL833630;AMYH01011504;BC002420;BC064950;BC115412;BC141851;BG700888;BG723788;BU615764;CH471063;CQ782959;NM_024293 AAH64950;BAC11332;BAG52263;CAB66692;CAF86188;EAW70689;NP_077269;Q8NC44 Hs.516707 2146830;5091495 IB2434;RH66353 C2orf17;DKFZp686C2379;MGC3035 OTTHUMP00000206167;hypothetical protein LOC79137;protein FAM134A protein-coding ENSG00000144567 28450 12807 VALIDATED 1606292 FAM135B family with sequence similarity 135, member B 8 8 8 q24.23 135311551 135677962 - 139211448 139578247 - 139142266 139509065 - 6480464 16169070;14702039;12477932;9110174;8619474;22228203;20125193 51059 E5RFQ7;E5RH68;H0YBQ7;J3QSR3;Q49AJ0 AB196635;ABBA01012671;ABBA01012672;ABBA01012673;AC068467;AC087711;AC103777;AF131744;AK091433;AMYH01019054;AMYH01019055;AMYH01019056;BC037288;BC106912;BC106913;BX110118;CH471060;CR457147;CR936831;NM_015912 AAD20030;AAH37288;AAI06913;AAI06914;BAE53437;CAG33428;EAW92189;EAW92190;EAW92191;NP_056996;Q49AJ0 Hs.126024 1339536;1339717;1653510;1664858;1670231;1670257;1691338;1697574;1718485;1722067;1722821;1779046;1779570;2132331;2135276;2145410;2153337;2154478;2167756;2174291;2181260 A008Z29;AFM316xb1;CHLC.GAAT11A02;D11S1346;D8S1510;D8S1604;D8S1837;D8S468;G60072;G60352;GAAT-P33065;RH102297;RH11902;RH122444;RH16518;RH92137;SGC33004;SHGC-153545;UniSTS:43709;WI-14780;WI-16113 C8ORFK32;MGC126009;MGC126010;MGC33221 OTTHUMP00000194813;OTTHUMP00000194814;OTTHUMP00000226104;hypothetical protein LOC51059;protein FAM135B protein-coding ENSG00000147724 28029 14230 VALIDATED 1312650 FAM135A family with sequence similarity 135, member A 6 6 6 q13 71511530 71659293 + 71179828 71327596 + 71123107 71270877 + 6480464 16381901;15489336;14702039;12477932;11230166;11076863;10718198;8125298;20379614;20549515;20970119 57579 D6RC17;D6RCC7;D6REA8;D6RFG9;H7BXC5;Q9NU48 AB037832;ABBA01040268;ABBA01040269;AJ420590;AK000183;AK001911;AK002067;AK023639;AK128547;AK225230;AL078591;AL136820;AL365226;AMYH01016415;BC030797;BC065767;BC131782;BM461890;CH471051;CR749254;DB462733;NM_001105531;NM_001162529;NM_020819 AAH65767;AAI31783;AAI46701;BAA90995;BAA92066;BAA92649;CAB66754;CAH18110;CAL37518;CAL37865;CAL37867;CAL38150;CAL38214;EAW48814;EAW48815;EAW48816;EAW48817;EAW48818;EAW48819;EAW48820;EAW48821;NP_001099001;NP_001156001;NP_065870;Q9P2D6 Hs.211700 1655749;1657104;1728509;2134837;5015619;5037552 D11S3114;D6S1207E;D8S2279;G63692;RH66382;STS-R55763 DKFZp781H2319;FLJ13577;KIAA1411 OTTHUMP00000016701;OTTHUMP00000218227;OTTHUMP00000218228;OTTHUMP00000218229;OTTHUMP00000218230;OTTHUMP00000218231;OTTHUMP00000218232;hypothetical protein LOC57579;protein FAM135A protein-coding ENSG00000082269 21084 11144 VALIDATED 1344753 FAM13A-AS1 FAM13A antisense RNA 1 4 4 4 q22.1 86927322 86947646 + 89849963 89870277 + 89630940 89651254 + 16344560;15234000;14702039 285512 ABBA01063557;AC108065;AK093650;AK126217;AMYH01014387;BN000087;DB305148;NR_002806 Hs.703446 1662728;1668862;1668864;1846949;1849908;1857638;2107073;2128520;2154691;2165441;2166890;2168032 A006P29;D4S2508E;FAM13A1__7625;G33864;RH17389;RH25270;RH45026;SHGC-36780;SHGC-50449;SHGC-59723;SHGC-67699;SHGC-67980 FAM13A1OS;FAM13AOS;FLJ36331;NCRNA00039 APPROVED miscrna ENSG00000248019 19370 613300 VALIDATED 2303679 FAM138F family with sequence similarity 138, member F 19 19 p13.3 76220 77690 - 76220 77690 - 15233989;12477932;11779631 641702 Q6VEP3 AC008993;AMYH01019167;AY341952;NR_026820 AAQ76865;Q6VEP3 Hs.569137;Hs.640260 5020617 G65650 F379;MGC168827 miscrna ENSG00000233630 33581 VALIDATED 6483486 FAM149B1P1 family with sequence similarity 149, member B1 pseudogene 1 15 q26.2 97300216 97301823 + 16572171 388181 ABBA01032414;ABBA01032415;AC080145;AMYH01006952;NG_029289 1681508;1727081 Cda1lf04;G62942 FAM149B2;KIAA0974P APPROVED pseudo 31735 INFERRED 1605923 FAM136A family with sequence similarity 136, member A 2 2 2 p13.3 70373798 70379911 - 70376613 70382705 - 70523108 70529220 - 6480464 15231747;11256614;16381901;16344560;15489336;12477932;14702039;11230166;11076863;8889548;8125298;20877624;21139048;21906983;22505724 84908 C9J2Y4;C9JF51;E7EQY1;Q96C01 ABBA01075535;AC022201;AK027574;AK225148;AK225151;AK309543;AK315877;AL833147;AMYH01010425;BC014975;BC026293;CB853567;CH471053;DB266394;NM_032822 AAH14975;AAX93110;BAB55208;BAF98768;CAL38017;EAW99815;EAW99816;NP_116211;Q96C01 Hs.516077 5014539;5091182;5117208 D2S2654;GDB:451766;WI-12528 FLJ14668 OTTHUMP00000160074;OTTHUMP00000204042;OTTHUMP00000204043;hypothetical protein LOC84908;protein FAM136A protein-coding ENSG00000035141 25911 07866 VALIDATED 1602961 FAM150B family with sequence similarity 150, member B 2 2 2 p25.3 342204 350952 - 269561 278308 - 279561 288308 - 6480464 12975309;11181995 285016 B5MC33;B5MCG6;H0Y3U4;Q6UX46 ABBA01035631;ABBA01035632;AC079779;AI300876;AI769402;AMYH01010044;AMYH01010045;AY358517;BC033490;CH471053;NM_001002919 AAI41486;AAI48770;AAQ88881;EAX01104;EAX01105;EAX01106;EAX01107;EAX01108;EAX01109;EAX01110;NP_001002919;Q6UX46 Hs.355207 1714215 RH119718 PRO1097;RGPG542 OTTHUMP00000199916;OTTHUMP00000199917;OTTHUMP00000199918;OTTHUMP00000199919;OTTHUMP00000199920;OTTHUMP00000199921;hypothetical protein LOC285016;protein FAM150B protein-coding ENSG00000189292 27683 17344 VALIDATED 1351219 FAM149B1 family with sequence similarity 149, member B1 10 10 10 q22.2 68213504 68287562 + 74597883 74674446 + 74927877 75001939 + 737633;6480464 12477932 10231032;8889548;14702039 317662 H0Y607;H7BY93;Q96BN6 AB023191;ABBA01020332;ABBA01020333;AC016394;AK023439;AK025189;AK303436;AMYH01002827;BC015394;BM977866;CH471083;DC340839;NM_173348 AAH15394;ADZ15330;BAA76818;BAG51194;BAG64484;EAW54482;NP_775483;Q96BN6 Hs.408577 1647850;1652341;1653323;1672020;1681508;1682205;1683425;1848231;2108025;2141614;2162096;2162563;5092678;5124837 A004V38;A005P38;Cda1lf04;D10S2398;DNAJC9_8008;G32259;HSC0RG102;RH28295;RH69462;RH98701;SGC32014;SHGC-32362;STS-R05800;WI-15528 KIAA0974 OTTHUMP00000071136;OTTHUMP00000071138;hypothetical protein LOC317662;protein FAM149B1 protein-coding 29162 VALIDATED 1320343 FAM13A family with sequence similarity 13, member A 4 4 4 q22.1 86943498 87274311 - 89866129 90197346 - 89647105 89978346 - 6480464 16964243;15302935;15234000;14702039;12477932;10048485;9314494;20656943;19724895;19851296;19875103;20010835;20173748;20198315;20379614;23169000;22027142;21906983;16344560;22080838;23284291 10144 D6RCC1;D6RD35;D6RFM4;D6RGE4;D6RIY4;E9PGM7;O94988;Q6P521 AB020721;ABBA01063557;ABBA01063558;ABBA01063559;ABBA01063560;ABBA01063561;AC021183;AC079141;AC108065;AF009202;AI658916;AK027138;AK091328;AK091787;AK091881;AK123724;AK296932;AK298262;AMYH01014387;BC033006;BC041029;BC053569;BC058029;BC063126;BC086875;BN000265;BX647410;CH471057;DA450095;DA692373;NM_001015045;NM_001265578;NM_001265579;NM_001265580;NM_014883 AAH63126;AAH86875;BAA74937;BAC03636;BAG59483;BAG60526;CAE18110;EAX06028;EAX06029;NP_001015045;NP_001252507;NP_001252508;NP_001252509;NP_055698;O94988 Hs.714536;Hs.97270 1335742;1646850;1652284;1662728;1668862;1668864;1676632;1717435;1735408;1754377;1758027;1772214;1773540;1846949;1848912;1849908;1855193;2107073;2118735;2128080;2131819;2133201;2144319;2152705;2154984;2154986;2155821;2160585;2165441;2166890;2168032;2170406;2172323;2175068;2177786;2178009;5109635 A006P29;D4S1011;D4S1160;D4S2460;D4S2508E;D4S2564E;D4S2580E;D4S2595E;D4S2828;D4S297;D4S3295;FAM13A1__7625;G33864;G34311;RH122208;RH45026;RH91970;SHGC-132393;SHGC-147152;SHGC-24784;SHGC-24785;SHGC-30448;SHGC-36144;SHGC-36780;SHGC-50218;SHGC-50344;SHGC-50449;SHGC-51762;SHGC-59262;SHGC-59703;SHGC-59723;SHGC-67278;SHGC-67699;SHGC4-1498;SHGC4-1593;SHGC4-1675;STS-N26574 ARHGAP48;FAM13A1;FLJ34562;MGC105131 FAM13A1_v2 protein;OTTHUMP00000219529;OTTHUMP00000219532;OTTHUMP00000219533;OTTHUMP00000219538;OTTHUMP00000219539;OTTHUMP00000219540;family with sequence similarity 13, member A1;protein FAM13A APPROVED protein-coding ENSG00000138640 19367 10944 613299 VALIDATED 1604030 FAM149A family with sequence similarity 149, member A 4 4 4 q35.1 184388532 184416266 + 187302989 187330811 + 187065995 187093817 + 6480464 14702039;12477932;8889548 25854 A5PLN7;D6RAL4;D6RC92;D6RGX1;H0Y8Y9;H0Y909;H0Y965 ABBA01070548;ABBA01070549;ABBA01070550;AC110771;AF173894;AK057166;AK295340;AK297679;AK309233;AK311462;AL080065;AMYH01014780;AMYH01014781;BC110816;BC136792;BC142992;BC144411;BM543645;BM926763;BQ884007;BU609191;CH471056;H17463;NM_001006655;NM_015398 A5PLN7;AAI10817;AAI36793;AAI42993;AAI43082;AAI43083;AAI44412;AAQ13641;BAG51873;BAG58311;BAH12648;CAB45695;EAX04625;EAX04626;EAX04627;NP_001006656;NP_056213 Hs.357025 1665895;1665897;1675746;1746755;1848278;2131758;2131760 G64842;SHGC-19044;SHGC-31286;SHGC-34941;SHGC-50330;SHGC-67330;STS-H70329 DKFZp564J102;MST119;MSTP119 OTTHUMP00000218485;OTTHUMP00000218486;OTTHUMP00000218497;OTTHUMP00000218498;hypothetical protein LOC25854;protein FAM149A protein-coding ENSG00000109794 24527 16810 VALIDATED 1321412 FAM13B family with sequence similarity 13, member B 5 5 5 q31 133395904 133490701 - 137301541 137396701 - 137273638 137368802 - 6480464 16344560;15489334;12477932;11161817;11087669;10931946;19322201;20936779 51306 D6RAT6;D6RBJ3;D6RCA0;D6RDL7;D6RE97;Q9NYF5 ABBA01068701;ABBA01068702;AC106753;AC113382;AF157316;AF251038;AK130245;AK314224;AL833699;AMYH01015639;AW592656;BC041335;BC048965;BC056887;BU183000;CH471062;DA499233;NM_001101800;NM_001101801;NM_016603 AAF63764;AAF67482;AAH48965;AAH56887;ACE86782;ACE87468;BAG36896;EAW62170;EAW62171;EAW62172;EAW62173;NP_001095270;NP_001095271;NP_057687;Q9NYF5 Hs.567453 1699486;1780672;1780684;2114522;2127533;5015879;5016781;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;GDB:314949;RH103336;SHGC-67307;STS-H99220;STS-H99814;bac51560S;bac51596T ARHGAP49;C5orf5;DKFZp667F249;FAM13B1;FLJ26735;KHCHP;MGC57159;N61 GAP-like protein N61;OTTHUMP00000159488;OTTHUMP00000223515;OTTHUMP00000223516;family with sequence similarity 13, member B1;hypothetical protein LOC51306;protein FAM13B APPROVED protein-coding ENSG00000031003 1335 06464 609371 VALIDATED 1604440 FAM150A family with sequence similarity 150, member A 8 8 8 q11.23 49436928 49468353 - 53609251 53640574 - 53446597 53478021 - 6480464 12975309;12477932 389658 B7ZMG9;Q6UXT8 ABBA01041703;ABBA01041704;AC013650;AI858920;AMYH01018715;AY358213;BC130641;BC130643;BC144534;BP423106;NM_207413 AAI30642;AAI30644;AAI44535;AAQ88580;ADR83463;NP_997296;Q6UXT8 Hs.527111 MGC163513;MGC163515;UNQ9433 OTTHUMP00000226269;OTTHUMP00000226270;RPLK9433;hypothetical protein LOC389658;protein FAM150A protein-coding ENSG00000196711 33775 15623 VALIDATED 1603888 FAM151B family with sequence similarity 151, member B 5 5 5 q14.1 75685113 75739510 + 79819556 79873962 + 79783800 79838382 + 6480464 12975309;12477932;7937745 167555 D6RD51;Q6UXP7 ABBA01062040;ABBA01062041;ABBA01062042;AC008771;AC018764;AMYH01015445;AY358256;BC131563;BC142990;CH471084;NM_205548;T10044 AAI31564;AAQ88623;EAW95854;EAW95855;EAW95856;NP_991111;Q6UXP7 Hs.338182;Hs.592674 1336630;2106741;2152433 D5S1397;RH78458;UNQ9217__5022 UNQ9217 AASA9217;OTTHUMP00000161978;hypothetical protein LOC167555;protein FAM151B protein-coding ENSG00000152380 33716 18272 VALIDATED 1606117 FAM154B family with sequence similarity 154, member B 15 15 15 q25.2 59494159 59516275 + 80342207 80364323 + 82555152 82577268 + 6480464 283726 B4E2M2;H3BMC1;H3BP55;H3BQV6;H3BVD4;Q658L1 ABBA01060647;AC026624;AK304339;AL833762;AMYH01006854;CH471136;NM_001008226 BAG65184;CAH56241;EAW99085;NP_001008227;Q658L1 Hs.459117 DKFZp666G057 hypothetical protein LOC283726;protein FAM154B protein-coding ENSG00000188659 33727 16817 PREDICTED 1320881 FAM13C family with sequence similarity 13, member C 10 10 10 q21.1 54272006 54388785 - 60675899 60792358 - 61005889 61122661 - 6480464 16189514;15489334;12477932;9110174;8889548;8619474;16344560;16385451;20200953;23362303 220965 A8K181;B4DSU7;B7Z2K3;D6RBC7;D6RIX4;E9PFN8;H0YGW3;J3KN80;Q8NE31 ABBA01019446;ABBA01019447;ABBA01019448;ABBA01019449;ABBA01019450;ABBA01019451;AC025038;AI453702;AK289796;AK294805;AK299924;AK316542;AL355474;AMYH01002766;AMYH01002767;BC036453;BC064431;BM677909;BM714192;BP394664;CH471083;DA188937;NM_001001971;NM_001143773;NM_001166698;NM_198215;U79304 AAB50228;AAH36453;AAH64431;ABM85330;ABW03713;BAF82485;BAG61759;BAH11889;BAH14913;EAW54187;EAW54188;EAW54189;EAW54190;EAW54191;EAW54192;EAW54193;NP_001001971;NP_001137245;NP_001160170;NP_937858;Q8NE31 Hs.607594 1342326;1710010;1761753;1789052;1854664;2121469;2157489;2161523;2164772;2178731;5019661;5021355;7187927 A009B22;D10S1860;D10S1867;D10S207;G17470;G32383;G65661;MARC_4733-4734:996679630:1;SHGC-145720;SHGC-30631;SHGC-57561;SHGC-82275 FAM13C1;MGC33233 OTTHUMP00000019640;OTTHUMP00000019641;OTTHUMP00000019642;OTTHUMP00000217373;OTTHUMP00000217375;OTTHUMP00000217376;OTTHUMP00000217377;OTTHUMP00000237978;family with sequence similarity 13, member C1;hypothetical protein LOC220965;protein FAM13C APPROVED protein-coding ENSG00000148541 19371 16875 VALIDATED 6480968 FAM155A-IT1 FAM155A intronic transcript 1 (non-protein coding) 100874375 AL136964 miscrna 41503 1604707 FAM153A family with sequence similarity 153, member A 5 5 q35.3 177082971 177140111 - 177150365 177207505 - 6480464 16344560;16189514;12477932;10508479;9872452 285596 A8MWQ6;D6RCD4;D6REE0;D6REX6;D6RF32;D6RF64;D6RIF1;Q9UHL3 AB018295;AC140125;AF155097;AK289518;AMYH01015881;AMYH01015882;AMYH01015883;AMYH01015884;AMYH01015885;DA217331;DB043399;DB046513;NM_173663 AAD42863;AAI66656;BAA34472;BAF82207;NP_775934;Q9UHL3 Hs.368516;Hs.652754 5015619;5015881;5037552 D11S3114;D8S2279;GDB:335751 FLJ75901;KIAA0752;NY-REN-7 NY REN 7 antigen;NY-REN-7 antigen;OTTHUMP00000223786;OTTHUMP00000223787;OTTHUMP00000223789;hypothetical protein LOC285596;protein FAM153A;renal carcinoma antigen NY-REN-7 protein-coding ENSG00000170074 29940 14870 VALIDATED 1322281 FAM154A family with sequence similarity 154, member A 9 9 9 p22.1 18854088 18959450 - 18917893 19023184 - 18927891 19033256 - 737633 12477932 15489334;15164053;14702039;20379614;16344560;23088713;23144319 158297 F6S232;Q5VZT6;Q8IYX7 AA992255;ABBA01065223;AK057474;AK292245;AL158150;AL356000;AMYH01019268;BC033489;CH471071;DB035807;DB038218;NM_153707 AAH33489;BAF84934;BAG51919;EAW58654;NP_714918;Q8IYX7 Hs.731593 1678251;1678305;1754789;1786980 RH91482;RH92577;SHGC-141283;SHGC-145926 C9orf138;FLJ35283;MGC35182 4930500O09Rik;OTTHUMP00000021090;OTTHUMP00000021091;hypothetical protein LOC158297;protein FAM154A protein-coding ENSG00000155875 28566 16676 VALIDATED 1603341 FAM151A family with sequence similarity 151, member A 1 1 1 53362426 53376780 - 54847442 54861786 - 55074850 55089200 - 6480464 17273976;16344560;14702039;12975309;12477932;19913121;20628086;20379614;21832049 338094 B1AQ20;Q8WW52 ABBA01074712;AK091901;AL590093;AMYH01000640;AY358629;BC015993;BC020874;BC073921;CH471059;DB335516;NM_176782 AAH15993;AAH20874;AAH73921;AAQ88992;BAC03768;EAX06685;EAX06686;NP_788954;Q8WW52 Hs.234786;Hs.741434 2106719;2142480 SHGC-74880;THEA__5252 C1orf179;MGC27169 OTTHUMP00000011521;OTTHUMP00000011522;hyporthetical protein MGC27169;hypothetical protein LOC338094;protein FAM151A protein-coding ENSG00000162391 25032 11326 VALIDATED 2303674 FAM157A family with sequence similarity 157, member A 3 3 q29 199363634 199392125 + 197879237 197907728 + 728262 C9JC47 AC073135;AMYH01013812;AMYH01013813;AMYH01013814;AMYH01013815;NM_001145248 C9JC47;NP_001138720 Hs.744675 family with sequence similarity 157, member A;putative protein FAM157A protein-coding 34079 INFERRED 2292084 FAM153B family with sequence similarity 153, member B 5 5 5 q35.2 173103231 173104090 + 175444515 175476064 + 175490712 175541801 + 6480464 16344560;14702039;12477932;9776767 202134 D6RF84;H0YL08;H0YMR7;P0C7A2 AC139491;AL042735;AMYH01015852;AMYH01015853;AMYH01015854;AMYH01015855;AMYH01015856;AW072245;BC028606;CD580216;DA224878;DB291737;NM_001265615 AAH28606;NP_001252544;P0C7A2 Hs.368516 1698510;5015619;5015961;5020948;5037552;5109281 D11S3114;D15S1477;D1S1425;D8S2279;G35510;RH102805 DKFZp434D115 OTTHUMP00000223257;OTTHUMP00000223259;OTTHUMP00000223260;OTTHUMP00000223262;hypothetical protein LOC202134;protein FAM153B protein-coding ENSG00000182230 27323 VALIDATED 2289766 FAM153C family with sequence similarity 153, member C 5 5 q35.3 177368295 177407262 + 177433967 177476088 + 14702039;12477932;16344560 653316 D6RA46;D6RCA3;D6RF56;Q494X1 ABBA01009980;AC136632;AC136940;AK294762;AMYH01015933;AMYH01015934;AMYH01015935;BC101338;BC101339;BC101340;BC101341;BC131737;BC146883;BC146888;BC171810;DA083707;DB030341;DB349407;NR_038353 AAI01339;AAI01340;AAI01341;AAI01342;AAI31738;AAI46884;AAI46889;AAI71810;BAG57896;Q494X1 Hs.652193 1852716;5015263;5015619;5037552 D11S3114;D8S2279;SHGC-84036;WI-16216 FLJ60013;NY-REN-7-like OTTHUMP00000223991;OTTHUMP00000223992;OTTHUMP00000223993;OTTHUMP00000223994;hypothetical protein LOC653316 pseudo ENSG00000204677 33936 VALIDATED 2293813 FAM159B family with sequence similarity 159, member B 5 5 5 q12.3 60983044 61010937 + 64021891 64056333 + 63986135 64014017 + 6480464 15372022 100132916 A6NKW6;D6RH14 ABBA01048337;ABBA01048338;AC008898;AMYH01015131;AMYH01015132;BQ271827;BU785751;BU952508;CH471137;NM_001164442 A6NKW6;EAW51370;NP_001157914 Hs.591776 1680082;1684046;1735440;1753303;1769949;1771149;2116402;2128710 D5S1573E;RH45975;RH48771;RH92756;RH92832;SGC38270;SHGC-81717;STS-N34863 OTTHUMP00000221853;membrane protein FAM159B protein-coding ENSG00000145642 34236 VALIDATED 1350785 FAM155B family with sequence similarity 155, member B This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011] X X X q13.1 69078407 69105680 + 68641803 68669076 + 68725078 68752351 + 1580863;6480464 12477932 27112 O75949 ABBA01067467;ABBA01067468;ABBA01067469;AF087142;AL158069;AMYH01022521;BC136518;BC136519;CH471132;NG_021282;NM_015686 AAC62086;AAI36519;AAI36520;EAX05363;EAX05364;NP_056501;O75949 Hs.87619 1711188;2109979;2117717 DXS8335;SHGC-85341;TMEM28_9526 CXorf63;TED;TMEM28;bB57D9.1 OTTHUMP00000023460;bB57D9.1 (TED protein);transmembrane protein 28;transmembrane protein FAM155B APPROVED protein-coding ENSG00000130054 30701 06740 VALIDATED 2303657 FAM157B family with sequence similarity 157, member B 9 9 q34.3 140226458 140253993 + 141106637 141134172 + 15164053;14702039 100132403 P0CG42 AL954642;AMYH01021931;AMYH01021932;AMYH01021933;AMYH01021934;AMYH01021935;AMYH01021936;AMYH01021937;AMYH01021938;AMYH01021939;AMYH01021940;NM_001145249 NP_001138721;P0CG42 Hs.741123 Putative protein FAM157B;family with sequence similarity 157, member B protein-coding 34080 INFERRED 2293495 FAM155A family with sequence similarity 155, member A 13 13 13 q33.3 88665078 89363877 - 106618880 107317084 - 107820879 108519460 - 6480464 16344560;12477932;8889549;8325628;18951430;20379614;20800221;21079607;23251661;23453885 728215 B1AL88 ABBA01027030;ABBA01027031;ABBA01027032;ABBA01027033;ABBA01027034;ABBA01027035;ABBA01027036;ABBA01027037;AK295445;AL136964;AL137219;AL138710;AL138914;AL359831;AL445204;AL445649;AMYH01005358;AMYH01005359;AMYH01005360;AMYH01005361;AMYH01005362;AW592075;BC146878;BC157830;BC157855;BC157862;DA779672;L10374;N69765;NM_001080396 AAI46879;AAI57831;AAI57856;AAI57863;B1AL88;BAH12070;NP_001073865 Hs.535394 1337481;1338935;1340935;1676462;1691326;1694684;1697732;1703738;1709452;1724487;1732301;1738409;1752205;1755343;1756379;1757533;1852002;2169529;2169644;5023091;5494195 AFMa304yb5;D13S1487;D13S619;D13S630;D13S669E;D13S778;D13S796;D13S908;D16Bir10;G43528;RH102388;RH11314;RH122502;RH92787;SHGC-106087;SHGC-142229;SHGC-143349;SHGC-144964;SHGC-78918;SHGC-81770;contig_117426 OTTHUMP00000018689;transmembrane protein FAM155A protein-coding 33877 VALIDATED 1346543 FAM156A family with sequence similarity 156, member A X X X p11.22 56750404 56760120 + 52993187 53002901 - 52976462 53024651 - 737633;1580863;6480464 12477932 11256614;16381901;16189514;15772651;15489336;15489334;14702039;11230166;11076863;16344560;16712791 29057 D6RAG7;D6RDX6;D6RHF9;E2QRI4;Q6NVY3 AC234031;AF090943;AF370413;AK054721;AK057692;AK092365;AK096162;AL807736;AL834135;AMYH01022411;AMYH01022412;AMYH01022413;AMYH01022414;AMYH01022415;BC000867;BC067819;BI829697;BU192418;CB139342;CH471283;CR749619;DA256347;DA347198;DA368012;DA371625;DA572135;DA685609;DA691898;DA849151;NM_001242489;NM_001242490;NM_001242491;NM_001242492;NM_001242493;NM_001242494;NM_001242495;NM_001242496;NM_001242497;NM_014138 AAF24055;AAH00867;AAH67819;AAQ15249;BAG51954;BAG52539;BAG53221;CAD38851;CAH18413;CAL38064;EAW57547;NP_001229418;NP_001229419;NP_001229420;NP_001229421;NP_001229422;NP_001229423;NP_001229424;NP_001229425;NP_001229426;NP_054857;Q8NDB6 Hs.6451;Hs.653131 1673734;1857556;2109981;2161505 AF020134;IB3700;TMEM29_9572;WI-18679 DKFZp686B22211;FAM156B;PRO0659;TMEM29 OTTHUMP00000023324;OTTHUMP00000023325;OTTHUMP00000023327;OTTHUMP00000023328;OTTHUMP00000023329;OTTHUMP00000023330;OTTHUMP00000023331;OTTHUMP00000023332;OTTHUMP00000023333;OTTHUMP00000218433;OTTHUMP00000218434;OTTHUMP00000218435;OTTHUMP00000218436;OTTHUMP00000218438;family with sequence similarity 156, member A;protein FAM156A;protein FAM156A/FAM156B;transmembrane protein 29;transmembrane protein 29/29B protein-coding ENSG00000182646 30114 06683 VALIDATED 1314542 FAM160B1 family with sequence similarity 160, member B1 10 10 10 q25.3 110310694 110388784 + 116571773 116614257 + 116581503 116659586 + 737633;6480464 12477932 10997877;21906983;19322201;22505724 57700 Q5W0V1;Q5W0V3;Q5W0V4 AB046820;ABBA01062970;ABBA01062971;AI521900;AL137025;AL833226;AMYH01003089;BC037207;CR933692;NM_001135051;NM_020940 AAH37207;BAB13426;CAI45992;NP_001128523;NP_065991;Q5W0V3 Hs.192619 1335735;1664845;1684740;1723901;1736066;1752769;1767979;2120656 D10S1341E;D10S2280;D10S562;RH119463;RH27144;SHGC-106583;STS-N32594;STS-T87905 DKFZp686D10123;KIAA1600;RP11-106M7.3;bA106M7.3 OTTHUMP00000020550;OTTHUMP00000020551;hypothetical protein LOC57700;protein FAM160B1 protein-coding ENSG00000151553 29320 17219 VALIDATED 1626581 FAM156B family with sequence similarity 156, member B X X p11.22 52942982 52954314 + 52928409 52937587 + 6480464 11256614;16382448;15772651;15489334;14702039 727866 Q6NVY3 ABBA01056344;AC234031;AK091598;AL445236;AL772208;AMYH01022406;AMYH01022407;AMYH01022408;AMYH01022409;AMYH01022410;AX405861;BX649013;NM_001099684 BAG52389;CAD34968;NP_001093154;Q8NDB6 Hs.6451 1673734;1857556;1858560;2109981;2161505;2162589 AF020134;DXS7726;IB3700;TMEM29_9572;UniSTS:55160;WI-18679 DKFZp686H1294;FAM156A;FLJ33130;FLJ34279;FLJ38843;TMEM29B OTTHUMP00000218311;OTTHUMP00000218312;OTTHUMP00000218313;OTTHUMP00000218314;OTTHUMP00000218315;OTTHUMP00000218316;family with sequence similarity 156, member B;protein FAM156A;protein FAM156A/FAM156B;transmembrane protein 29;transmembrane protein 29-like;transmembrane protein 29/29B;transmembrane protein 29B protein-coding ENSG00000179304 31962 PROVISIONAL 1601694 FAM159A family with sequence similarity 159, member A 1 1 1 p32.3 51385843 51409503 + 52871654 52895325 + 53099066 53122737 + 6480464 12975309;12477932 348378 Q6UWV7 ABBA01074765;AC099784;AK128236;AL356976;AMYH01000621;AY358621;BC041608;CH471059;NM_001042693 AAQ88984;BAC87346;EAX06773;EAX06774;EAX06775;NP_001036158;Q6UWV7 Hs.424589 1854731;2171332 D1S1173;D1S2599 MGC52498;PRO7171;WWLS2783 OTTHUMP00000224886;membrane protein FAM159A protein-coding ENSG00000182183 28757 14678 VALIDATED 2293812 FAM160A1 family with sequence similarity 160, member A1 4 4 4 q31.3 149654831 149908687 + 152623211 152803356 + 152330398 152584784 + 6480464 16344560;12477932;10737800;8889549;20379614 729830 D6RAG2;D6RBF5;D6RDL4;D6RF38;Q05DH4 AA021504;ABBA01070113;ABBA01070114;ABBA01070115;ABBA01070116;ABBA01070117;ABBA01070118;AC079795;AC092611;AC097455;AK125363;AMYH01014618;AMYH01014619;BC014937;CV410375;DA722299;NM_001109977 AAH14937;BAC86147;NP_001103447;Q05DH4 Hs.633810 1649001;1663012;1695596;1751073;1763073;1788954;2117427;2136679;2155621;2162359;2176022 D4S1123;D4S1324;D4S481;D4S848;D4S942;G65552;SHGC-105026;SHGC-146808;SHGC-51206;SHGC-57096;SHGC-68685 FLJ43373 OTTHUMP00000220552;family with sequence similarity 160, member A1;hypothetical protein LOC729830;protein FAM160A1 protein-coding ENSG00000164142 34237 PROVISIONAL 1318892 FAM160B2 family with sequence similarity 160, member B2 8 8 8 p21.3 20908996 20924174 + 22002660 22017836 + 21946714 21961891 + 6480464 19122663;15146197;14702039;12477932;21832049;15626329;22971576 64760 F2Z2X3;Q86V87 ABBA01005501;ABBA01005502;ABBA01005503;ABBA01005504;AC091171;AF318332;AF495722;AK001987;AK025411;AK025454;AK055191;AK095924;AK126408;AK294646;AK315634;AMYH01018564;AMYH01018565;BC012865;BC013350;BC052237;BC112147;CH471080;CN307828;NM_022749 AAH12865;AAH13350;AAH52237;AAI12148;AAL55839;AAQ06676;BAB15137;BAG38002;BAG51483;BAG57823;EAW63720;EAW63721;EAW63722;EAW63723;NP_073586;Q86V87 Hs.491223 1335778;1660433;1674220;1721367;1721703;1728385;2115053;2139962;2166975;2172714;5092734 A005V15;D8S1951;DXS8056;G32295;G59684;G59714;G63475;RH45540;RH69860;RH70272;WI-20118 FLJ11125;FLJ21801;MGC138352;RAI16 OTTHUMP00000224803;OTTHUMP00000224804;protein FAM160B2;retinoic acid induced 16;retinoic acid-induced protein 16 protein-coding ENSG00000158863 16492 17951 VALIDATED 2293814 FAM161A family with sequence similarity 161, member A This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011] 2 2 2 p15 61897120 61926189 - 61907022 61934554 - 62051983 62081278 - 6480464;7240710 16381901;15489336;14702039;12477932;11230166;11076863;16169070;20705278;20705279;10507729;20301590;22940612;22791751 84140 F8W731;F8WCZ8;H7C4C9;Q3B820 ABBA01075372;AC107081;AI690681;AK023367;AK296255;AK310908;AMYH01010388;BC036448;BC107162;BC107163;BX648834;BX649029;CH471053;DC398889;NG_028125;NM_001201543;NM_032180;NR_037710 BAB14544;BAG58969;CAL37420;CAL37710;CAL38395;EAW99988;EAW99989;EAW99990;EAW99991;NP_001188472;NP_115556;Q3B820 Hs.440466 1341532;1690776;1694942;1784150;1789148;5022200;5022578;5037552 D1S1423;D2S380;D8S2279;G44364;G65708;L18426;RH92836;SHGC-154774 FLJ13305;MGC129982;MGC129983;RP28 OTTHUMP00000201350;OTTHUMP00000201353;hypothetical protein LOC84140;protein FAM161A;retinitis pigmentosa 28 (autosomal recessive) APPROVED protein-coding ENSG00000170264 25808 606068;613596 REVIEWED 1604775 FAM160A2 family with sequence similarity 160, member A2 11 11 11 p15.4 6351643 6375017 - 6189140 6212517 - 6232564 6255941 - 6480464 16381901;16344560;16189514;15489336;15489334;14702039;12477932;11256614;11230166;11214970;11076863;18799622;21906983 84067 E9PJK5;Q8N612 AB051546;ABBA01028663;AC022762;AK056468;AK291702;AL136723;AMYH01003366;BC030825;CH471064;DA389621;NM_001098794;NM_032127 AAH30825;ACE86964;ACE87654;BAB21850;BAF84391;BAG51722;CAB66657;CAL37668;EAW68737;EAW68738;EAW68739;EAW68740;NP_001092264;NP_115503;Q8N612 Hs.501793 2161913;2183752;2183754 A006C42;D11S4412;G20710 C11orf56;DKFZp566M1046;FLJ22665;KIAA1759 FHIP;FTS and Hook-interacting protein;OTTHUMP00000164536;OTTHUMP00000229564;OTTHUMP00000229565 protein-coding ENSG00000051009 25378 08002 VALIDATED 1603057 FAM162A family with sequence similarity 162, member A 3 3 3 q21.1 120512651 120538589 + 123585713 123611651 + 122103023 122128961 + 6480464 19520982;19269009;16698020;15489334;15082785;14702039;12477932;11085516;20705733;20840676;20877624;22939629;21906983;22505724 26355 E9PH05;F8W7Q4;Q96A26;Q9H2P1 ABBA01016470;AC083798;AF107495;AF191020;AF201944;AF250321;AK026030;AK125835;AK293994;AMYH01013430;BC010896;BC015060;BI460077;CH471052;NM_014367 AAF09484;AAF86880;AAG39275;AAG44569;AAH10896;AAH15060;BAG57358;EAW79486;NP_055182;Q96A26 Hs.584881 2132902 D3S4236 C3orf28;E2IG5;HGTD-P E2-induced gene 5 protein;HIF-1 alpha-responsive proapoptotic molecule;OTTHUMP00000215578;OTTHUMP00000215579;OTTHUMP00000215580;growth and transformation-dependent protein;protein FAM162A protein-coding 17865 06422 608017 VALIDATED 1604863 FAM163B family with sequence similarity 163, member B 9 9 9 q34.2 106991068 106992269 - 135433965 135435166 - 136443537 136445368 - 6480464 15164053;12477932;10737800 642968 A8MTS3;P0C2L3 ABBA01032454;AMYH01021808;BC146946;BC146961;BF365944;BX629352;NM_001080515 AAI46947;AAI46962;AAI52888;AAI56626;AAI56837;NP_001073984;P0C2L3 Hs.741379 C9orf166 OTTHUMP00000215809;hypothetical LOC642968;hypothetical protein LOC642968;protein FAM163B protein-coding 33277 VALIDATED 1319187 FAM161B family with sequence similarity 161, member B 14 14 14 q24.3 54437651 54453783 - 73470458 73486588 - 74399695 74417117 - 6480464 15489334;14702039;12477932;7566098 145483 H0YJ62;Q96MY7 ABBA01030740;AC005480;AI082216;AK056259;AK302982;AMYH01005849;AW274700;BC053909;BI253737;CH471061;CR749537;NM_152445 AAH53909;BAB71131;BAH13868;EAW81144;EAW81145;NP_689658;Q96MY7 Hs.550547;Hs.660789 2143185;5020885;5124759 G35542;L17791;RH80544 C14orf44;FLJ31697;c14_5547 OTTHUMP00000245616;hypothetical protein LOC145483;protein FAM161B protein-coding ENSG00000156050 19854 12649 VALIDATED 1605572 FAM163A family with sequence similarity 163, member A 1 1 1 q25.2 152819916 152892948 + 177978921 178051956 + 179712298 179785333 + 6480464 15489334;17208556;16710414;12477932;19671756;20379614 148753 Q96GL9 AB299025;ABBA01027806;ABBA01027807;AK292432;AK302665;AK310711;AK313887;AL359853;AMYH01001534;AY902195;BC009382;CH471067;NM_173509 AAH09382;AAX07133;ABM84042;ABM87389;BAF85121;BAF96730;BAG36612;BAG63900;EAW91055;NP_775780;Q96GL9 Hs.729631 1685163;1692170;1699842;1781798;5492031 AL033719;D1Bda47;RH103528;RH98456;SHGC-156054 C1orf76;MGC16664;NDSP;RP11-12M5.2;cebelin OTTHUMP00000033195;cebelin;family with sequence similarity 163, member A;neuroblastoma derived secretory protein;neuroblastoma-derived secretory protein;protein FAM163A protein-coding ENSG00000143340 28274 14454 611727 PROVISIONAL 1351794 FAM162B family with sequence similarity 162, member B 6 6 6 q22.1 117816449 117829975 - 117180053 117193579 - 117073360 117086886 - 6480464 15489334;14574404;12477932;8889549;21460395;20379614 221303 Q5T6X4 ABBA01026045;AL354716;AMYH01016617;BC038997;CH471051;H71557;NM_001085480 AAH38997;EAW48215;NP_001078949;Q5T6X4 Hs.126712 1678653;1699548 RH103373;RH93925 C6orf189;bA86F4.2 OTTHUMP00000017074;hypothetical protein LOC221303;protein FAM162B protein-coding ENSG00000183807 21549 VALIDATED 1603805 FAM166A family with sequence similarity 166, member A 9 9 9 q34.3 110653622 110657807 - 139257858 139262043 - 140138037 140142222 - 6480464 14702039;12477932 401565 C9JBW9;Q6J272 ABBA01022752;AK097419;AMYH01021896;AY604177;BC132916;BC132918;BX255925;CH471090;NM_001001710 AAI32917;AAI32919;AAT36740;ADR83124;BAC05044;EAW88371;EAW88372;NP_001001710;Q6J272 Hs.522530 2155579;2158314 DXS7003E;RH71271 FLJ40100;HSD46 OTTHUMP00000215779;hypothetical protein LOC401565;protein FAM166A protein-coding ENSG00000188163 33818 13441 PREDICTED 1602962 FAM169B family with sequence similarity 169, member B 15 15 15 q26.3 75398171 75475245 - 96797914 96875134 - 98980391 99057611 - 6480464 14702039;21935397;22354554 283777 Q8N8A8 ABBA01020571;ABBA01020572;AC103968;AC118658;AK097062;AMYH01006960;NM_182562 AAI46359;AAI48844;BAC04940;NP_872368;Q8N8A8 Hs.668070 1761593 SHGC-145589 FLJ39743 hypothetical protein LOC283777;protein FAM169B protein-coding ENSG00000185087 26835 08265 VALIDATED 2293907 FAM166B family with sequence similarity 166, member B 9 9 9 p13.3 35495505 35497455 - 35551946 35553896 - 35561827 35563896 - 6480464 12477932 730112 A8MTA8 ABBA01064991;AI383111;AL133476;AMYH01019346;BC129999;BC146928;BC146933;BC171840;BC171851;NM_001099951;NM_001164310 A8MTA8;AAI30000;AAI46929;AAI46934;AAI71840;AAI71851;NP_001093421;NP_001157782 Hs.98959 1652385;2157817 HSC03D022;WI-14686 MGC157846 OTTHUMP00000206397;OTTHUMP00000206398;hypothetical protein LOC730112;protein FAM166B protein-coding ENSG00000215187 34242 VALIDATED 1344184 FAM167A family with sequence similarity 167, member A 8 8 8 p23-p22 10407815 10453655 - 11316382 11361663 - 11278973 11324276 - 6480464 19180478;19110536;18204098;12477932;11896452;19740902;20131239;20156505;20379614;20848568;20861858;21480188;22446962 83648 E9PIY0;Q96KS9 ABBA01026879;ABBA01026880;AF131216;AJ301564;AK290704;AL157475;AL522457;AL834122;AMYH01018480;AMYH01018481;BC029587;BC048214;BC104041;BC104042;BC104043;CH471157;NM_053279 AAH48214;AAI04042;AAI04043;AAI04044;ACE87786;ACT64454;BAF83393;CAB75670;CAC82740;CAD38843;EAW65616;NP_444509;Q96KS9 Hs.124299 1340902;1658235;1850746;2119439;2174336;5093498 A009P42;D8S265;G32753;RH66428;SGC33822;STS-W67504 C8orf13;D8S265;DKFZp761G151;MGC120649;MGC120650;MGC120651 OTTHUMP00000159723;hypothetical protein LOC83648;protein FAM167A protein-coding ENSG00000154319 15549 12924 610085 VALIDATED 1602273 FAM170A family with sequence similarity 170, member A 5 5 5 q23.1 114918983 114925248 + 118993192 118999416 + 118965254 118971517 + 12477932;20162441 340069 A1A519;A2VCN0;D6RIE9 ABBA01068976;AC010409;AF427126;AMYH01015576;AY692447;BC040622;BC128242;BC128243;NM_001163991;NM_182761 A1A519;AAH40622;AAI28243;AAI28244;AAP97296;AAU04855;NP_001157463;NP_877438 Hs.713304 MGC149385;ZNFD OTTHUMP00000222955;OTTHUMP00000222956;OTTHUMP00000222957;OTTHUMP00000222958;OTTHUMP00000222959;Znf domain containing protein;family with sequence similarity 170, member A;protein FAM170A;zinc finger domain-containing protein;zinc finger protein ZNFD protein-coding ENSG00000164334 27963 14174 VALIDATED 1606974 FAM168B family with sequence similarity 168, member B 2 2 2 q21.1 124726677 124772234 + 131521919 131567474 - 131805449 131851004 - 6480464 14702039;12477932;20716133;21139048 130074 A1KXE4 ABBA01004565;ABBA01004566;ABBA01004567;ABBA01004568;AC009477;AK022529;AK023868;AL137406;AL137413;AL833819;AMYH01011085;AY253283;BC035115;BC066347;BC110642;BC127804;BX647486;CH471250;DB453209;NM_001009993 A1KXE4;AAH66347;AAI10643;AAP79599;CAH10735;EAW51267;EAW51268;NP_001009993 Hs.534679 1655426;2174281;2178056 A007I14;D2S1530E;WI-15107 MANI;MGC87527 OTTHUMP00000203952;OTTHUMP00000203954;hypothetical protein LOC130074;myelin-associated neurite-outgrowth inhibitor;p20;protein FAM168B protein-coding ENSG00000152102 27016 17295 VALIDATED 1606487 FAM167B family with sequence similarity 167, member B 1 1 1 p35.1 30982988 30984631 + 32485405 32487048 + 32712818 32714461 + 6480464 16710414;15489334;12477932;19913121;20628086 84734 Q9BTA0 ABBA01023434;AL121991;AMYH01000465;BC004269;BG282224;BX091465;CH471059;NG_023387;NM_032648 AAH04269;EAX07547;EAX07548;NP_116037;Q9BTA0 Hs.18449 1697086 RH102025 C1orf90;MGC10820 OTTHUMP00000008639;hypothetical protein LOC84734;protein FAM167B protein-coding ENSG00000183615 28133 14401 VALIDATED 1346857 FAM170B family with sequence similarity 170, member B 10 10 10 q11.23 43924786 43927652 - 50009205 50012083 - 50339199 50342065 - 12477932 170370 A6NMN3 ABBA01041075;AC084727;AMYH01002642;BC029839;BC047597;NM_001164484 A6NMN3;AAH29839;AAH47597;NP_001157956 Hs.646291 C10orf73 OTTHUMP00000019571;putative protein FAM170B protein-coding ENSG00000172538 19736 VALIDATED 1604050 FAM168A family with sequence similarity 168, member A 11 11 11 q13.4 70422420 70614641 - 72794676 72986876 - 73117028 73309228 - 6480464 21603883;15489334;12477932;9039502;21334329;17207965;21139048;23284291;22365988;23251525 23201 Q92567 ABBA01017516;ABBA01017517;ABBA01017518;ABBA01017519;ABBA01017520;ABBA01017521;ABBA01017522;AK292054;AMYH01003802;AMYH01003803;AMYH01003804;AP000763;AP000860;BC014932;BC052341;CH471076;D87470;EF197985;EF363480;NM_015159 AAH52341;ABM69272;ABM69287;ADQ33044;BAA13408;BAF84743;EAW74899;NP_055974;Q92567 Hs.475334 1664281;1665446;1666943;1674039;1737863;1772818;1782490;1791137;2125425;2156341 D11S3464;D11S4645;RH47899;SHGC-172588;SHGC-33836;STS-U23843;WI-12605;WI-16136;WI-19948;px-56c9 KIAA0280;TCRP1 OTTHUMP00000237537;OTTHUMP00000237538;OTTHUMP00000237539;family with sequence similarity 168, member A;hypothetical protein LOC23201;protein FAM168A;tongue cancer chemotherapy resistance-associated protein 1 protein-coding ENSG00000054965 28999 PROVISIONAL 1354368 FAM171B family with sequence similarity 171, member B 2 2 2 q32.1 181154411 181224139 + 187267034 187336759 + 187558789 187628514 + 737633;6480464 12477932 14702039;11853319 165215 Q6P995 AB075826;ABBA01062341;AC017101;AF361495;AK091423;AK094578;AK095604;AK289737;AL834264;AMYH01011337;BC036478;BC060872;CH471058;NM_177454 AAH36478;AAH60872;AAL57220;AAY24258;BAB85532;BAC03660;BAC04380;BAC04586;BAF82426;CAD38939;EAX10930;EAX10931;EAX10932;NP_803237;Q6P995 Hs.28872 1708606;1857004;2120426;2139471;2184711;5108630 D2S2028;D2S225;D2S2500;SHGC-85093;WI-11078;WI-17454 FLJ34104;KIAA1946 KIAA1946;OTTHUMP00000205448;protein FAM171B protein-coding 29412 13907 VALIDATED 2300032 FAM169A family with sequence similarity 169, member A 5 5 5 q13.3 69968151 70057308 - 74109155 74198371 - 74073399 74162663 - 6480464 14702039;12477932;10048485;21890473;21906983;16344560;22412018 26049 D6R953;D6RB01;D6RC41;D6RFI5;Q9Y6X4 AB020695;ABBA01061935;ABBA01061936;ABBA01061937;AC010501;AC093214;AK022981;AK290004;AMYH01015407;BC040298;BC044766;BX494462;BX640902;BX647536;CH471084;CR936791;DA326879;DB024270;NM_015566;NR_046462 BAA74911;BAB14344;BAF82693;CAE45948;EAW95750;NP_056381;Q9Y6X4 Hs.91662 1657025;1671048;1735550;1752189;1752899;1785316 D5S1674E;D5S1738;D5S1858;SHGC-106085;SHGC-106799;SHGC-111475 KIAA0888;SLAP75 OTTHUMP00000222941;OTTHUMP00000222944;hypothetical protein LOC26049;protein FAM169A;soluble lamin-associated protein of 75 kDa;soluble lamina-associated protein of 75 kD protein-coding ENSG00000198780 29138 VALIDATED 2298809 FAM172BP family with sequence similarity 172, member B, pseudogene 3 3 3 q12.3 99630058 99635066 + 102720401 102725421 + 101237711 101242731 + 131909 A6NC97 ABBA01061774;AC073861;AK127584;AMYH01013360;EG328077;NR_036433 A6NC97 Hs.518125 5037552 D8S2279 FAM172B;FLJ45679 APPROVED pseudo ENSG00000175841 34336 VALIDATED 7206910 FAM170B-AS1 FAM170B antisense RNA 1 10 50329884 50359592 + 12477932;14702039 100506733 ABBA01041075;AC084727;AI147416;AK093055;AMYH01002642;BC033360;NR_038973 Hs.404175 1686568 RH92257 miscrna ENSG00000234736 45006 VALIDATED 2298821 FAM171A2 family with sequence similarity 171, member A2 17 17 17 q21.31 39140726 39150869 - 39786627 39797861 - 42431101 42441235 - 6480464 12477932;21890473;22139419 284069 A8MVW0;K7EMG4 ABBA01028375;ABBA01028376;AC003043;AMYH01008417;AMYH01008418;BC029298;BC030200;CH471178;NM_198475 A8MVW0;AAH30200;EAW51598;NP_940877 Hs.154001 1733368 D17S1183 MGC34829 OTTHUMP00000163259;hypothetical protein LOC284069;protein FAM171A2 protein-coding ENSG00000161682 30480 VALIDATED 1605018 FAM172A family with sequence similarity 172, member A 5 5 5 q15 88812827 89307611 - 92979531 93436221 - 92953431 93447404 - 6480464 20818486;16381901;15489336;12477932;11256614;11230166;11076863;9110174;8619474;20137623;20379614;21092515;20360068;21139048;21890473;19322201 83989 B4DMI0;E9PBM2;Q8WUF8 ABBA01069275;ABBA01069276;ABBA01069277;ABBA01069278;ABBA01069279;ABBA01069280;ABBA01069281;ABBA01069282;ABBA01069283;AC093268;AC099501;AC106818;AC108102;AC114980;AC117528;AF070617;AK295127;AK295879;AK296683;AK296986;AK297471;AK312930;AL136630;AMYH01015485;AMYH01015486;BC012007;BC020584;BP398089;CH471084;DC324758;DC374283;NM_001163417;NM_001163418;NM_032042;NR_028080;W15296 AAH20584;BAG35773;BAG58152;BAG58676;BAG59279;BAG59527;BAG59892;CAB66565;CAL37653;CAL37760;EAW96011;EAW96012;EAW96013;EAW96014;NP_001156889;NP_001156890;NP_114431;Q8WUF8 Hs.600086 1676304;1704828;1720931;1749331;1749551;1750453;1785244;1785250;1785360;2138306;2141893;2152859;5110978 A008J20;G59295;L31488;RH92220;SHGC-102491;SHGC-102777;SHGC-111091;SHGC-111250;SHGC-111763;SHGC-112151;SHGC-57089;SHGC-79884;STS-Z21965 C5orf21;DKFZp564D172 OTTHUMP00000162006;OTTHUMP00000222439;OTTHUMP00000222440;OTTHUMP00000222441;OTTHUMP00000222442;hypothetical protein LOC83989;protein FAM172A protein-coding ENSG00000113391 25365 13210 VALIDATED 1313160 FAM171A1 family with sequence similarity 171, member A1 10 10 10 p13 15186204 15346555 - 15293648 15453064 - 15253642 15413058 - 6480464 15489334;15164054;14702039;12477932;20379614 221061 B3KMX9;Q5SW12;Q5VUB5;Q9Y438 ABBA01034588;ABBA01034589;ABBA01034590;AK022946;AL050367;AL139338;AL590365;AL607028;AMYH01002057;AY683003;BC034232;BC109302;BC109303;BX496483;CH471072;NM_001010924 AAH34232;AAI09303;AAI09304;AAV85904;BAG51141;CAB43675;EAW86236;EAW86237;NP_001010924;Q5VUB5 Hs.66762 1706924;1730401;1736012;5017431 D10S1296E;D10S1859;D10S239E;SHGC-80951 C10orf38;FLJ12884;MGC130014;MGC130015 OTTHUMP00000019205;astroprincin;hypothetical protein LOC221061;protein FAM171A1 protein-coding ENSG00000148468 23522 18581 VALIDATED 1603183 FAM173B family with sequence similarity 173, member B 5 5 5 p15.2 10266333 10289908 - 10279438 10303014 - 10225619 10250021 - 6480464 14702039;12477932;8681137;20379614;17207965;16328025;21802380;16344560;19416867;22956598 134145 D6RBE3;D6RIE0;J3KN90;Q6P4H8 AA856750;ABBA01020593;AC012640;AC034229;AK000674;AK055604;AK123462;AK300042;AK302012;AK316317;AMYH01014902;BC048801;BC063406;BG611454;CH471102;DA523490;DA843869;DW420473;F29251;GD160552;NM_001258388;NM_001258389;NM_199133;NR_047668;NR_047669;NR_047670 AAH63406;ADQ32608;BAG61853;BAG63414;BAH14688;EAX08073;EAX08074;NP_001245317;NP_001245318;NP_954584;Q6P4H8 Hs.481569 1764361;1768832;1785768 SHGC-147960;SHGC-83804;WI-14366 FLJ20667;JS-2 OTTHUMP00000220721;OTTHUMP00000220722;OTTHUMP00000220723;hypothetical protein LOC134145;protein FAM173B protein-coding 27029 14054 VALIDATED 2301270 FAM177A1P1 family with sequence similarity 177, member A1 pseudogene 1 4 4 q23 97174646 97183602 + 99877150 99886107 + 15815621;9847074 728710 ABBA01063667;AC019131;AMYH01014418;NG_011746 1724381 RH122714 FAM177A2 APPROVED pseudo 34441 INFERRED 1606862 FAM174B family with sequence similarity 174, member B 15 15 15 q26.1 69572621 69610827 - 90961682 91000035 - 93160678 93199031 - 6480464 16303743;12477932;21160409;21890473 400451 G3V5D1;H3BP98;H3BPY1;H3BTJ4;Q3ZCQ3 ABBA01053092;ABBA01053093;AC091544;AK075564;AL110139;AL110289;AMYH01006931;AMYH01006932;BC031970;BC045729;BC060873;BC110328;CH471101;CS051461;NM_207446 AAH45729;AAH60873;BAC11703;CAI72222;EAX02154;EAX02155;NP_997329;Q3ZCQ3 Hs.27373;Hs.702316 2133167;2177675 D15S717E;RH44364 MGC102891 OTTHUMP00000246762;membrane protein FAM174B protein-coding ENSG00000185442 34339 14220 VALIDATED 1601696 FAM174A family with sequence similarity 174, member A 5 5 5 q21.1 95818712 95870036 + 99899023 99950339 + 99871124 99922440 + 6480464 15489334;12975309;12477932;16274251 345757 Q8TBP5 ABBA01069170;AC021086;AF529367;AK289539;AMYH01015504;AY359108;BC027332;CH471086;NM_198507 AAH27332;AAQ09601;AAQ89466;ADZ15962;BAF82228;EAW49106;NP_940909;Q8TBP5 Hs.356108 1663509;1743529;2126169;2130194 A006U45;D5F139S1;SGC30392;SHGC-14889 MGC17345;TMEM157;UNQ1912 HCV NS5A-transactivated protein 6;HGS_RE408;OTTHUMP00000158914;hepatitis C virus NS5A-transactivated protein 6;membrane protein FAM174A;transmembrane protein 157 protein-coding ENSG00000174132 24943 18260 PROVISIONAL 1605784 FAM177B family with sequence similarity 177, member B 1 1 1 q41 196129726 196143178 + 220977181 220990625 + 222910558 222924002 + 6480464 19734545 400823 A6PVY1;A6PVY2;A6PVY3 ABBA01048046;AK125494;AL392172;AMYH01001748;CA848039;NM_207468 A6PVY3;BAC86182;NP_997351 Hs.697608 1709504 SHGC-81812 FLJ43505;RP11-452F19.2 OTTHUMP00000196554;OTTHUMP00000196556;OTTHUMP00000196557;hypothetical protein LOC400823;novel transcript;protein FAM177B protein-coding ENSG00000197520 34395 16965 VALIDATED 1343313 FAM173A family with sequence similarity 173, member A 16 16 16 p13.3 971323 972755 + 711159 712591 + 771142 772590 + 6480464 16169070;15489334;12477932;11157797 65990 H3BPE8;H3BQW1;J3KMW5;Q9BQD7 ABBA01030353;AE006464;AI492179;AK123186;AMYH01007003;BC001181;BC002624;BI597021;BI838160;CH471112;NM_001271285;NM_023933;Z98258 AAH01181;AAH02624;AAK61248;EAW85746;NP_001258214;NP_076422;Q9BQD7 Hs.166244 C16orf24;MGC2494 OTTHUMP00000149991;hypothetical protein LOC65990;protein FAM173A protein-coding ENSG00000103254 14152 14500 VALIDATED 1603353 FAM179A family with sequence similarity 179, member A 2 2 2 p23.2 29048978 29119488 + 29057668 29128600 + 29204164 29275096 + 6480464 16344560;20125088 165186 B5MCN5;C9JJW1;C9JLI7;F8W8E4;Q6ZUX3 ABBA01045243;AC105398;AK125239;AK125744;AK296977;AMYH01010207;BI768759;BQ772038;CH471053;DA213268;DA460119;NM_199280 BAC86095;BAC86270;BAG59519;EAX00519;EAX00520;NP_954974;Q6ZUX3 Hs.525977 1341018;1700400;1749963;7186714 D2S170;RH103820;SHGC-111670 OTTHUMP00000197215;hypothetical protein LOC165186;protein FAM179A protein-coding ENSG00000189350 33715 14110 VALIDATED 1318962 FAM175B family with sequence similarity 175, member B 10 10 10 q26.13 120264282 120299165 + 126480344 126515229 + 126490354 126525239 + 737633;6480464 12477932 19261749;17353931;19214193;17081983;16344560;15489334;15231748;15144186;8590280;19615732;21195082;22863883;23314748;21282113;21987572;21139048;21890473;21906983;19322201;20032457;20656690;19380743 23172 Q15018 ABBA01034152;ABBA01034153;ABBA01034154;AC068896;AK025991;AK296677;AL537809;AMYH01003158;BC008999;BQ000004;CH471066;D63877;DA148097;NM_032182 AAH08999;BAA09927;BAG59274;EAW49256;EAW49257;NP_115558;Q15018 Hs.280695 1768579;2156809;2165220;2190591 D10S2179;EST-CFZ97746;RH11277;RH25376 ABRO1;FLJ22338;KIAA0157 BRISC complex subunit Abro1;OTTHUMP00000020697;abraxas brother 1;abraxas brother protein 1 protein-coding ENSG00000165660 28975 13783 611144 VALIDATED 1604576 FAM175A family with sequence similarity 175, member A 4 4 4 q21.23 81672544 81696745 - 84601116 84625314 - 84382092 84406290 - 6480464 19261749;17525340;17643121;19261748;19261746;19415121;18695986;18270812;18077395;17643122;16344560;15489334;14702039;12975309;12477932;19015238;19305427;22357538;19615732;21437268;22990118;16196087;20656690;22689573;22792303;20656689;21282113;21529986;12938929;21139048;21890473;21906983;19766185 84142 D6RAN3;D6REL5;D6RHI5;E9PHB9;Q6UWZ7 ABBA01063465;AC096768;AK021582;AK022704;AK023676;AMYH01014359;AY358576;BC016905;BC039573;BQ775930;CH471057;DA765424;EF531340;NM_139076 AAH16905;AAH39573;AAQ88939;ABP87396;BAB14189;BAB14635;EAX05941;EAX05942;EAX05943;NP_620775;Q6UWZ7 Hs.334772 1699530;2156230;2167987;5015404;5020946;5037552;5109281 D1S1425;D8S2279;G30051;L17705;L17971;RH103362;RH71183 ABRA1;CCDC98;FLJ11520;FLJ12642;FLJ13614 BRCA1-A complex subunit Abraxas;OTTHUMP00000160985;OTTHUMP00000221470;abraxas protein;coiled-coil domain containing 98;coiled-coil domain-containing protein 98 protein-coding ENSG00000163322 25829 08584 611143 VALIDATED 1605679 FAM178B family with sequence similarity 178, member B 2 2 2 q11.2 91981818 92094500 - 96905349 96927558 - 97541619 97652301 - 6480464 16344560;12477932;11042152;16169070 51252 B3KV66;F8W6I6;Q8IXR5 ABBA01036565;ABBA01036566;ABBA01036567;ABBA01036568;ABBA01036569;ABBA01036570;ABBA01036571;ABBA01036572;AC079395;AC092636;AF151068;AJ710728;AK122705;AK308698;AMYH01010726;AMYH01010727;AMYH01010728;BC038583;BC039488;BC051379;BI826484;BX103404;CH471207;DA357118;N68280;NM_001122646;NM_001172667;NM_016490 AAF36154;AAH38583;AAH39488;AAH51379;AAY14968;BAG53678;EAW71321;EAW71322;EAW71323;NP_001116118;NP_001166138;NP_057574;Q8IXR5 Hs.107922 1732575;2166061 D10S1137;WI-10308 OTTHUMP00000207741;OTTHUMP00000207742;hypothetical protein LOC51252;protein FAM178B protein-coding ENSG00000168754 28036 14235 VALIDATED 1604688 FAM180A family with sequence similarity 180, member A 7 7 7 q33 130151804 130171052 - 135064895 135083987 - 135414346 135433594 - 6480464 12975309;12690205;12477932;10737800;23251661 389558 F8WAY2;Q6UWF9 AACC02000025;ABBA01001126;AC091736;AK290250;AK297754;AK310180;AL597791;AMYH01017959;AY358803;BC137311;BC137312;BI040280;BU617005;CH236950;CS498401;NM_205855 AAI37312;AAI37313;AAQ89163;BAF82939;BAG60104;CAM82730;EAL24057;NP_995327;Q6UWF9 Hs.55200 1857879 RH46984 UNQ1940 HWKM1940;OTTHUMP00000208201;OTTHUMP00000208539;hypothetical protein LOC389558;protein FAM180A protein-coding ENSG00000189320 33773 15613 VALIDATED 1349080 FAM178A family with sequence similarity 178, member A 10 10 10 q24.31 96410079 96462617 + 102662316 102714881 + 102672326 102724891 + 6480464 17081983;15164054;14702039;12477932;12459258;16385451;15840729;21139048;19322201 55719 B1AL16;Q6GMU6;Q8IX21 AA829402;ABBA01063213;ABBA01063214;ABBA01063215;ABBA01063216;AF460991;AF460992;AI282394;AK001374;AK024283;AK057741;AK292565;AL133215;AL138762;AL832343;AL832383;AL833126;AMYH01003001;AMYH01003002;BC015131;BC020915;BC030565;BC047715;BC064526;BC073832;CH471066;NM_001136123;NM_001243770;NM_018121 AAH20915;AAH47715;AAH73832;AAI60007;AAN84475;BAA91657;BAB71557;BAF85254;EAW49805;EAW49806;EAW49807;EAW49808;NP_001129595;NP_001230699;NP_060591;Q8IX21 Hs.447458;Hs.732620 1684054;1688162;1851683;2135324;2155508 A004M06;AFMA133ZE1;RH75803;RH92408;SHGC-3905 C10orf6;MGC90157 OTTHUMP00000020300;OTTHUMP00000020301;hypothetical protein LOC55719;protein FAM178A protein-coding ENSG00000119906 17814 12581 610348 VALIDATED 1342850 FAM177A1 family with sequence similarity 177, member A1 14 14 14 q13.2 15377941 15416411 + 34583864 34622340 + 35514113 35552589 + 6480464 15489334;14702039;12477932;19663910;21139048;21890473 283635 G3V3Z5;G3V583;H0YJC3;H0YJX7;Q8N128;R4GN97 ABBA01061497;AI148967;AK096173;AL049776;AL833508;AMYH01005666;BC029559;BX640884;BX640984;CH471078;CR749796;NM_001079519;NM_173607 AAH29559;BAC04716;CAH18656;EAW65892;NP_001072987;NP_775878;Q8N128 Hs.446357 1645842;1655059;2126192;2138308;2158339;5017170;5037552 D14S723;D8S2279;G35396;G36267;G36277;L29953;RH69612 C14orf24;DKFZp686J1254;FLJ38854 OTTHUMP00000178815;OTTHUMP00000244637;OTTHUMP00000245884;hypothetical protein LOC283635;protein FAM177A1 protein-coding ENSG00000151327 19829 12644 VALIDATED 1321397 FAM179B family with sequence similarity 179, member B 14 14 14 q21.2 25292672 25404888 + 44501166 44613384 + 45431416 45543634 + 1580863;6480464 16335990;15489334;14702039;12477932;12168954;9455477;17549794 23116 G3V3B1;G3XAE9;H0YIY7;H0YJ89;Q6P183;Q9Y4F4 AB007883;ABBA01018045;ABBA01018046;ABBA01018047;ABBA01018048;AK096934;AK295185;AK311034;AL049870;AL121809;AMYH01005701;BC057255;BC065234;BX648723;CH471078;CR749557;NM_015091 AAH57255;AAH65234;BAA24853;BAG58189;CAH18354;EAW65790;EAW65791;NP_055906;Q9Y4F4 Hs.371078 1774720;1858311;2134596;2137895;2175904;5015619;5037552 D11S3114;D8S2279;G35750;G36268;SGC38165;SHGC-30827;SHGC-64131 DKFZp686D12126;KIAA0423 OTTHUMP00000178914;OTTHUMP00000178915;hypothetical protein LOC23116;protein FAM179B protein-coding ENSG00000198718 19959 11082 VALIDATED 2298817 FAM180B family with sequence similarity 180, member B 11 11 11 p11.2 47750958 47753509 + 47564774 47567322 + 47608230 47610746 + 12477932 399888 Q6P0A1 ABBA01060699;AC104942;AMYH01003544;BC065704;CB999847;NM_001164379 AAH65704;NP_001157851;Q6P0A1 Hs.502529 5023733 AU048745 OTTHUMP00000237139;hypothetical gene supported by BC065704;hypothetical protein LOC399888;protein FAM180B protein-coding ENSG00000196666 34451 VALIDATED 2299984 FAM183A family with sequence similarity 183, member A 1 1 1 p34.2 41895704 41904179 + 43386181 43394654 + 43613594 43622067 + 16710414;11181995 440585 A6NL82;B7ZBL6;B7ZBL7;B7ZBL9;B7ZBM0 ABBA01050962;AI192630;AI375550;AL139138;AMYH01000556;AMYH01000557;CH471059;NM_001101376 A6NL82;EAX07119;NP_001094846 Hs.657614 1656366;2126965;2135804 G34870;RH69972;SHGC-34195 OTTHUMP00000204115;OTTHUMP00000204116;OTTHUMP00000204117;OTTHUMP00000204118;hCG23177;protein FAM183A protein-coding ENSG00000186973 34347 VALIDATED 1345866 FAM181A-AS1 FAM181A antisense RNA 1 14 14 q32.12 74424840 74446481 - 94371076 94392718 - 12477932 283592 ABBA01030427;AK125743;AL132642;AMYH01005968;BC029883;BC037859;NR_027004 Hs.585648 1338763;1685622;2118120;2122379;2150302;2163479 D14S744;D14S749;G10562;GDB:314207;IB1274;RH93218 C14orf86 APPROVED miscrna ENSG00000258584 20133 PREDICTED 1605261 FAM181B family with sequence similarity 181, member B 11 11 11 q14.1 79752906 79754766 - 82120694 82122554 - 82443046 82444906 - 6480464 14702039;12477932 220382 A6NEQ2 ABBA01017369;AK095054;AMYH01003839;AP002796;BC039262;BC150621;BE857184;BE858471;CH471076;NM_175885 A6NEQ2;AAI50622;EAW75073;NP_787081 Hs.448218 1671207;1722087 G60085;WI-16283 MGC33846 OTTHUMP00000234258;hypothetical protein LOC220382;protein FAM181B protein-coding ENSG00000182103 28512 14575 VALIDATED 1347876 FAM182A family with sequence similarity 182, member A 20 20 20 p11.1 26070349 26084045 + 25983291 26015553 + 26035250 26067553 + 6480464 14702039;12477932;11780052 284800 A2A3U3;A2A3U4;C9JXT9;Q5T1J6 ABBA01005169;ABBA01018457;AK095693;AL391119;AL450124;AMYH01011817;AMYH01011818;AMYH01011819;BC131537;NR_026713 BAC04609;Q5T1J6 Hs.516956 1679485 RH99031 C20orf91;FLJ38374;bB329D4.1 miscrna ENSG00000125804 16222 08240 PREDICTED 2301273 FAM184B family with sequence similarity 184, member B 4 4 4 p16 18098690 18248116 - 17242794 17392774 - 17633696 17783135 - 6480464 14702039;10574462 27146 Q9ULE4 AB033102;ABBA01032614;ABBA01032615;ABBA01032616;ABBA01032617;AC005768;AC006160;AK027311;AK308144;AMYH01014034;AMYH01014035;CH471069;NM_015688 BAA86590;EAW92783;NP_056503;Q9ULE4 Hs.18861 1340351;1714179;1849075;2136077;2151099;2172228;5024413 D4S1043;D4S2946;L17877;RH119699;RH47849;SHGC-24746;SHGC-36184 KIAA1276 OTTHUMP00000217983;hypothetical protein LOC27146;protein FAM184B protein-coding 29235 VALIDATED 2301116 FAM185BP family with sequence similarity 185, member B pseudogene 7 7 q11.23 76550983 76589619 - 76713047 76751683 - 9847074;23251661 641808 ABBA01057997;AC007000;AMYH01017621;AMYH01017622;AMYH01017623;AMYH01017624;AMYH01017625;NG_009751 1707070;1726565;1727031;1756087 G62664;G62914;SHGC-142880;SHGC-81291 FAM185B APPROVED pseudo 21813 INFERRED 7246558 FAM183CP family with sequence similarity 183, member C, pseudogene 12477932 286135 ABBA01023675;AC131254;AL833525;AMYH01018616;BC028745;BC045833;BC126344;NR_024473 Hs.376840 miscrna ENSG00000253279 27827 VALIDATED 2299181 FAM182B family with sequence similarity 182, member B 20 20 20 p11.1 25823846 26090175 + 25702169 25715387 - 25744102 25781927 - 6480464 15489334;12477932;11780052 728882 F6T327;J3QS56;Q5T319 ABBA01048714;AL096727;AL390198;AMYH01011789;AMYH01011790;AMYH01011791;AMYH01011792;AMYH01011793;AMYH01011794;AMYH01011795;AMYH01011796;AMYH01011797;AMYH01011798;AMYH01011799;AMYH01011800;AMYH01011801;BC042812;NR_026714;NR_027061 Q5T319 Hs.682103 1649999;1679485 RH99031;Z94454 DKFZp434B104;MGC51338 miscrna 34503 PREDICTED 2299983 FAM183B family with sequence similarity 183, member B 7 7 7 p14.1 38712794 38714537 - 38691469 38693162 - 38724946 38726689 - 6480464 16344560;12477932 340286 Q6ZVS7 AACC02000036;ABBA01056930;AC011309;AI217903;AK124132;AMYH01017189;BC045803;BG772121;CH236951;DB047796;NR_028347 BAC85784;EAL23991 Hs.144075 pseudo ENSG00000164556 34511 VALIDATED 6482918 FAM187A family with sequence similarity 187, member A q21.31 14702039;16625196 100528020 A6NFU0 AC015936;AK023156 A6NFU0 Hs.743398 1853861;2148774;2167075 RH78023;SHGC-24053;WI-13537 FLJ13094 Ig-like V-type domain-containing protein FAM187A protein-coding 35153 1319141 FAM181A family with sequence similarity 181, member A 14 14 14 q32.12 74439021 74449713 + 93455011 93465697 + 94385240 94395954 + 6480464 18029348;15489334;14702039;12477932;16344560 90050 G3V3V1;G3V5K4;Q8N9Y4 ABBA01030427;AK093387;AK315393;AL132642;AMYH01005968;AY255795;BC009073;CH471061;CX870424;DB058808;NM_001207071;NM_001207072;NM_001207073;NM_001207074;NM_138344 AAH09073;AAP15252;BAC04151;BAG37786;EAW81537;EAW81538;NP_001194000;NP_001194001;NP_001194002;NP_001194003;NP_612353;Q8N9Y4 Hs.525550 1688414;2118120 IB1274;RH94166 C14orf152 OTTHUMP00000245750;OTTHUMP00000245751;OTTHUMP00000245752;OTTHUMP00000245753;hypothetical protein LOC90050;protein FAM181A protein-coding ENSG00000140067 20491 12636 VALIDATED 1320032 FAM188A family with sequence similarity 188, member A C10ORF97 is a member of the caspase-associated recruitment domain (CARD) family of proteins that play a role in apoptosis (Liu et al., 2002 [PubMed 12054670]).[supplied by OMIM, Mar 2008] 10 10 10 p13 15753418 15835764 - 15860181 15942525 - 15820175 15902519 - 737633;6480464 12477932 17652099;14702039;12054670;17207965;16169070;18029348;21499297;21139048;21890473;21906983 80013 Q9H3I4 AB014761;ABBA01034580;ABBA01034581;AF063600;AF176916;AK023459;AL590439;AL833873;AMYH01002059;AMYH01002060;BC020605;BC061585;BC067799;CH471072;CR457315;NM_024948 AAG43159;AAH20605;AAH61585;AAH67799;AAQ13660;ADQ32077;BAB14582;BAB87802;CAD38730;CAG33596;EAW86233;EAW86234;NP_079224;Q9H8M7 Hs.158870 1674001;1714025;2110533;2113932;2168243 AB070132;MARC_43417-43418:1095094009:1;RH119444;WI-13843;WI-17514 C10orf97;CARP;DERP5;FLJ13397;MST126;MSTP126;RP11-394I23.1;my042 CARD-containing protein;OTTHUMP00000019208;caspase recruitment domain containing pro-apoptotic protein;chromosome 10 open reading frame 97;dermal papilla-derived protein 5;protein FAM188A APPROVED protein-coding ENSG00000148481 23578 10702 611649 VALIDATED 2306135 FAM188B2 family with sequence similarity 188, member B2 3 3 3 q25.1 149001782 149033992 - 152071522 152105916 - 150588832 150621044 - 16641997;20717163;20379614 646951 A8MYZ0;H3BMX4;H3BNN4 AC016142;AC020636;AC108674;HM626137;HM626138;HM626139;XM_001717355;XM_929916 A8MYZ0;XP_001717407;XP_935009 Hs.380222;Hs.736436 1706114;1853030;2148253 D3S3413;D3S3968;SHGC-80096 C3orf76;CLRN1 Putative UPF0526 protein B;UPF0526 protein B-like;family with sequence similarity 188, member B2 protein-coding 35475 2301117 FAM186A family with sequence similarity 186, member A 12 12 12 q13.12 49516875 49586366 - 49007362 49076672 - 50721095 50790405 - 6480464 16541075;12477932 121006 A6NE01;F5GYN0;F5H8C1;H0YFA1 ABBA01031567;ABBA01031568;ABBA01031569;ABBA01031570;ABBA01031571;ABBA01031572;AC090058;AC140061;AL833333;AMYH01004451;AMYH01004452;BC054024;BC140703;NM_001145475 A6NE01;AAI40704;NP_001138947 Hs.133187 5037552 D8S2279 OTTHUMP00000237185;OTTHUMP00000237187;Protein FAM186A;family with sequence similarity 186, member A protein-coding ENSG00000185958 26980 PROVISIONAL 1603571 FAM187B family with sequence similarity 187, member B 19 19 19 q13.12 32429153 32433077 - 40407544 40411468 - 35715704 35719628 - 6480464 12477932 148109 Q17R55 ABBA01018736;AC002128;AK098526;AMYH01009725;BC039080;BC117457;BC117459;HC007342;NM_152481 AAI17458;AAI17460;ADR82985;BAC05322;CBH19476;NP_689694;Q17R55 Hs.128069 1697550 RH102283 FLJ25660;TMEM162 OTTHUMP00000226755;family with sequence similarity 187, member B;protein FAM187B;transmembrane protein 162 protein-coding ENSG00000177558 26366 08071 PROVISIONAL 1601709 FAM185A family with sequence similarity 185, member A 7 7 7 q22.1 97255888 97256824 + 102176641 102236914 + 102389399 102449672 + 6480464 16344560;14702039;12477932;18029348;23251661 222234 C9JFL0;F8WFC0;Q8N0U4 ABBA01057997;AC006477;AC105052;AK054745;AK297455;AK298753;AMYH01017810;BC029175;CH471070;DB192367;DR006842;NM_001145268;NM_001145269;NR_026879 AAH29175;ABM84285;ABM87677;BAG59879;BAG60895;EAW83297;NP_001138740;NP_001138741;Q8N0U4 Hs.202543 1647324;1707070;1726565;1727031;1756087 G62664;G62914;SHGC-142880;SHGC-81291;WI-16885 MGC35361 OTTHUMP00000205148;OTTHUMP00000212400;hypothetical protein LOC222234;protein FAM185A protein-coding 22412 11343 VALIDATED 1316770 FAM189A2 family with sequence similarity 189, member A2 9 9 9 q21.11 42529998 42597862 + 71134061 71197188 + 71939488 72007370 + 737633;6480464 12477932 16344560;16189514;15164053;14702039;7951235;22925353 9413 Q15884;Q8WU02 ABBA01033807;ABBA01033808;AK056152;AK126127;AL355140;AMYH01021384;BC021685;BC113683;BC113685;BX641153;CH471089;DA824091;L27479;NM_001127608;NM_004816 AAA61301;AAH21685;AAI13684;AAI13686;ADR82993;BAB71105;BAC86453;CAE46067;EAW62482;EAW62483;EAW62484;EAW62485;NP_001121080;NP_004807;Q15884 Hs.118003 1645147;1659358;1709880;1757391;1849111;2129392 A006Z23;D9S2004;D9S742E;RH69524;SHGC-144782;SHGC-84771 C9orf61;MGC142243;MGC142245;RP11-548B3.1;X123 Friedreich ataxia region gene X123;OTTHUMP00000021434;Protein FAM189A2;chromosome 9 open reading frame 61 protein-coding ENSG00000135063 24820 16255 607710 VALIDATED 1322675 FAM184A family with sequence similarity 184, member A 6 6 6 q22.31 120025627 120214634 - 119322694 119512057 - 119280995 119470358 - 6480464 16344560;15489334;14702039;12477932;11230166;21145461;20379614;21832049;21139048;21890473;22118674 79632 B9DI78;E7EQ67;H0Y672;H0YBA5;H0YBC0;H0YBE3;H0YBZ6;H7BY63;Q6P9G8;Q8NB25 ABBA01026019;ABBA01026020;ABBA01026021;ABBA01026022;ABBA01026023;ABBA01026024;AI457286;AJ420503;AJ420563;AK024004;AK091682;AK127744;AK308316;AL132874;AL136767;AL137009;AL365275;AMYH01016624;AMYH01016625;AY131226;BC009055;BC060769;BX538186;BX640728;CH471051;DA717412;DB237883;NM_001100411;NM_024581 AAH09055;AAH60769;AAN07912;ACE87824;ACT64398;BAB14769;BAC03719;BAC87110;CAB66701;CAD98058;CAE45844;EAW48188;EAW48189;EAW48190;NP_001093881;NP_078857;Q8NB25 Hs.443789 1337724;1675674;1701124;1732609;1763817;1777683;1785846;1846877;2187164;7187780 D6S304;D6S950;RH104190;RH68100;RH78972;RH81046;SHGC-108140;SHGC-147486;WI-21037 C6orf60;FLJ13942 OTTHUMP00000017103;OTTHUMP00000227873;OTTHUMP00000227874;OTTHUMP00000227875;hypothetical protein LOC79632;protein FAM184A protein-coding ENSG00000111879 20991 09856 VALIDATED 2312700 FAM192BP family with sequence similarity 192, member B, pseudogene 4 4 4 q31.3 151173657 151175211 + 154068032 154069408 + 153848582 153850136 + 6480464 16201836;21906983 152667 Q2VIL1 ABBA01070128;AC099339;AMYH01014625;DQ120679;NG_007351 ABB92457 1689630;1754767 RH75360;SHGC-33215 FAM192B;rcNIP30 APPROVED pseudo 37194 INFERRED 1604773 FAM186B family with sequence similarity 186, member B This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 12 12 12 q13.12 48771118 48793893 - 48267555 48285621 - 49976658 49999433 - 11256614;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863 84070 B4DZ15;E9PMM1;F8VRJ5;H0YIB0;Q8IYM0 ABBA01031528;AC020612;AI829695;AK093242;AK302702;AL136748;AL713673;AMYH01004445;BC035621;CH471111;DB087952;DC402111;NG_032901;NM_032130;NR_027450 AAH35621;BAG52677;BAG63927;CAB66682;CAD28479;CAL38243;EAW58082;EAW58083;NP_115506;Q8IYM0 Hs.524406 1670586;1853023 259VF9;SHGC-74169 C12orf25;DKFZp434J0113;DKFZp434N2350 OTTHUMP00000235922;hypothetical protein LOC84070;protein FAM186B APPROVED protein-coding ENSG00000135436 25296 08535 VALIDATED 1604570 FAM188B family with sequence similarity 188, member B 7 7 7 p14.3 30800258 30921208 + 30777558 30898527 + 30811033 30932002 + 6480464 16344560;14702039;12477932;19913121;20628086;22396660 84182 Q4G0A6 AACC02000087;ABBA01056814;AC004691;AC006022;AF538962;AK026027;AK090826;AK128558;AMYH01017151;BC043210;BC098569;CH471073;DA868176;NM_032222 AAH98569;AAQ10898;BAB15327;EAW93970;NP_115598;Q4G0A6 Hs.660192 1338315;1338703;1669320;1758899;2120312;2124629;7186431;7186542;7186733 D7S1863;D7S2491;D7S632;GDB:1317454;GDB:443790;SHGC-150611 C7orf67;FLJ22374;FLJ51453;MGC44277 OTTHUMP00000202456;hypothetical protein LOC84182;protein FAM188B protein-coding ENSG00000106125 21916 13387 VALIDATED 2311472 FAM189A1 family with sequence similarity 189, member A1 15 15 15 q13.1 7049724 7311092 - 29412455 29862927 - 29412455 29862927 - 16344560;12477932;9628581;19913121;20628086;20379614;22247754;23251661 23359 H0YKM1;O60320 AB011146;ABBA01010384;ABBA01010385;ABBA01010386;ABBA01010387;ABBA01010388;ABBA01010389;ABBA01010390;AC024474;AC061965;AC090763;AC102941;AC107980;AI364989;AK295622;AMYH01006499;BC127817;DA188047;DA327746;NM_015307 BAA25500;BAG58501;NP_056122;O60320 Hs.383564 1338998;1661096;1672929;1678457;1690682;1697722;1721667;1749015;1755851;1764065;1789128;1794868;1846635;2115120;2133360;2179042;2181409 D15S1019;D15S549;D15S815;D15S898;D1S2526;G59844;G65700;PMC64493P3;RH102383;RH45968;RH78472;RH91713;SHGC-110656;SHGC-142689;SHGC-147723;SHGC-31050;STS-W04542 FLJ61121;KIAA0574;TMEM228 hypothetical protein LOC23359;protein FAM189A1;transmembrane protein 228 protein-coding ENSG00000104059 29075 VALIDATED 1314529 FAM189B family with sequence similarity 189, member B This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 1 1 1 q21 128290272 128298549 - 153483620 153491898 - 155216996 155225274 - 6480464 15064722;14702039;12477932;9331372;9110174;8619474;17452746;21890473;15123239;21963094;23317259 10712 D6RD59;P81408;Q96AD8;Q9Y6J7 ABBA01016711;AF023268;AF070550;AK093335;AL353941;AL713999;AMYH01001427;BC006297;BC006493;BC007444;BC008854;BC010471;BC017262;BC033707;BC040136;CH471121;NM_001267608;NM_006589;NM_198264 AAC28638;AAC51822;AAH06297;AAH06493;AAH07444;AAH08854;AAH10471;AAH17262;AAH40136;ABZ92294;EAW53094;EAW53095;EAW53096;EAW53097;EAW53098;EAW53099;NP_001254537;NP_006580;NP_937995;P81408 Hs.348308 1674284;1739925;1855394;2120616;2120618;2160110;2217938;5015959;5022578;5022639;5022651 A004W05;A005Z12;D10S2448;D11S2808;D11S2921;D1S1423;D1S2358;D1S2518;D1S3427;G20617;SCAMP3_2726 C1orf2;COTE1 OTTHUMP00000033996;OTTHUMP00000033997;OTTHUMP00000033999;OTTHUMP00000223242;hypothetical protein LOC10712;protein FAM189B APPROVED protein-coding ENSG00000160767 1233 08511 VALIDATED 1320077 FAM193A family with sequence similarity 193, member A 4 4 4 p16.3 2538459 2645603 + 2596957 2704100 + 2627159 2734302 + 6480464 12477932;11169226;9734812;8946164;20379614;10737800;18029348;16341674 8603 D6R990;D6RFZ4;E7EUR8;P78312 AA905011;AB000459;AB000460;AB000461;AB001563;ABBA01029491;ABBA01029492;ABBA01029493;ABBA01029494;ABBA01029495;AF040966;AK303732;AK307430;AK308449;AL110117;AMYH01013882;AMYH01013883;BC136646;BC144337;BC144339;BC144340;BF924432;BM468825;BM788933;CH471131;D44687;NM_001256666;NM_001256667;NM_001256668;NM_003704;NR_046335;NR_046336 AAB97012;AAI36647;AAI44341;BAA19116;BAA19117;BAA19118;BAA31858;BAH14034;EAW82518;EAW82519;EAW82520;EAW82521;NP_001243595;NP_001243596;NP_001243597;NP_003695;P78312 Hs.652364 1340771;1670351;1679127;1729998;1743221;2156483;2172474;7183988 D4S1614;D4S181;GDB:304604;SHGC-50241;SHGC-67346;SHGC-67729;SHGC-9126 C4orf8;RES4-22 OTTHUMP00000218361;OTTHUMP00000218362;OTTHUMP00000218363;OTTHUMP00000218364;OTTHUMP00000218365;OTTHUMP00000218366;OTTHUMP00000218367;hypothetical protein LOC8603;protein FAM193A APPROVED protein-coding ENSG00000125386 16822 09850 VALIDATED 1605578 FAM194A family with sequence similarity 194, member A 3 3 3 q25.1 148790766 148834837 - 151860365 151904432 - 150377675 150421742 - 6480464 19240061;14702039;12477932 131831 C9J7L7;C9JVV3;Q7L0X2 ABBA01058923;AC011317;AK093375;AL834214;AMYH01013575;BC029577;BC036239;CH471052;HC007164;NM_152394 AAH29577;AAH36239;BAC04146;CAD38896;CBH19387;EAW78824;EAW78825;EAW78826;NP_689607;Q7L0X2 Hs.147128 1689165;1696664;1753831 RH93883;SHGC-107995;SHGC-82971 C3orf44;MGC39662 OTTHUMP00000164936;OTTHUMP00000216694;hypothetical protein LOC131831;protein FAM194A APPROVED protein-coding ENSG00000163645 28602 17543 VALIDATED 1606127 FAM194B family with sequence similarity 194, member B 13 13 13 q14.13 27170108 27244549 - 45013433 45087875 - 46115432 46189874 - 14702039;12477932;20379614 220081 Q5W0A0 ABBA01050977;AK057244;AL139326;AMYH01005092;BC131494;CH471075;NM_182542 AAI31495;BAB71393;EAX08745;NP_872348;Q5W0A0 Hs.668747 1758659;1912834 REN27226;SHGC-149095 FLJ32682 OTTHUMP00000018353;hypothetical protein LOC220081;protein FAM194B APPROVED protein-coding ENSG00000165837 26523 08729 PREDICTED 1601757 FAM193B family with sequence similarity 193, member B 5 5 5 q35.3 171520903 171555672 + 176879396 176914144 - 176946790 176981548 - 6480464 16713569;16189514;14702039;12477932;11572484;10737800;15146197;16344560;21177767;21900206;19322201;20368287;22505724 54540 D6RAX9;D6RC29;D6RDZ2;D6REE6;D6REQ2;E9PEZ8;H0Y9D3;H0Y9G1;H0Y9J9;H0Y9W8;H0YCX2;Q6IPW0;Q96PV7 AB067518;ABBA01033452;AC139795;AC145098;AI039634;AI683595;AK001266;AK096032;AL833096;AMYH01015876;BC008784;BC071696;BC086859;BF768924;BX431446;BX440663;BX647587;CH471195;CN372828;CS185605;DA077186;NM_001190946;NR_024019 AAH08784;AAH71696;BAA91589;BAB67824;BAG53200;CAI46078;CAJ42786;EAW84969;EAW84970;EAW84971;EAW84972;EAW84973;EAW84974;EAW84975;EAW84976;NP_001177875;Q96PV7 Hs.484289 1850682;2191599 MARC_26808-26809:1034278260:1;RH78125 DKFZp313I142;FLJ10404;IRIZIO;KIAA1931 OTTHUMP00000223797;family with sequence similarity 193, member B;hypothetical protein LOC54540;protein FAM193B APPROVED protein-coding ENSG00000146067 25524 07671 VALIDATED 2801165 FAM197Y1 family with sequence similarity 197, Y-linked, member 1 Y Y p11.2 3487400 3493820 - 9378306 9384726 - 100289265 H0Y635 ABBA01031132;AC006156;XM_002344201;XM_003846785 XP_002344242;XP_003846833 family with sequence similarity 197, Y-linked, member 1 protein-coding 37464 MODEL 2793755 FAM197Y10 family with sequence similarity 197, Y-linked, member 10 Y q11.223 23625546 23627679 - 100288465 XM_002343869 XP_002343910 family with sequence similarity 197, Y-linked, member 10 protein-coding 37627 1347953 FAM197Y2 family with sequence similarity 197, Y-linked, member 2 Y Y p11.2 9967275 9972877 - 9357275 9362877 - 12815422 252946 AC006156;AF527835;AK129785;NR_001553 Hs.559065;Hs.638604 5125505 DYF61S2 CYorf16;FAM197Y2P APPROVED pseudo ENSG00000234803 18848 PROVISIONAL 2798785 FAM197Y3 family with sequence similarity 197, Y-linked, member 3 Y Y p11.2 9950620 9952813 - 9340620 9342813 - 100132506 AC006156;XM_001716449 XP_001716501 Hs.559065 family with sequence similarity 197, Y-linked, member 3 protein-coding 37465 MODEL 3497372 FAM196B family with sequence similarity 196, member B 5 5 5 q35.1 165322310 165439373 - 169223297 169340322 - 169290719 169407744 - 14702039;15372022;20379614 100131897 A6NMK8 ABBA01044103;ABBA01044104;AC008449;AC008648;AK055998;AMYH01015802;NM_001129891 A6NMK8;NP_001123363 Hs.721917 1707580;1780570;1785686;2180908;5020431 D5S1713;RH45919;SHGC-78709;SHGC-84601;bac51192T C5orf57 OTTHUMP00000223158;Uncharacterized protein LOC100131897;hypothetical protein LOC100131897;protein FAM196B protein-coding ENSG00000204767 37271 PREDICTED 2795360 FAM197Y7 family with sequence similarity 197, Y-linked, member 7 Y p11.2 9211135 9213335 - 100287826 AC006158;XM_002344441 XP_002344482 family with sequence similarity 197, Y-linked, member 7 protein-coding 37469 MODEL 2795366 FAM197Y6 family with sequence similarity 197, Y-linked, member 6 Y p11.2 9231475 9233681 - 100287859 AC006158;XM_002344442 XP_002344483 family with sequence similarity 197, Y-linked, member 6 protein-coding 37468 MODEL 2801503 FAM197Y5 family with sequence similarity 197, Y-linked, member 5 Y p11.2 9296352 9301954 - 12815422;9847074 100289150 AC006156;NR_046300 Hs.638604 family with sequence similarity 197, Y-linked, member 5 miscrna 37467 VALIDATED 2797679 FAM197Y9 family with sequence similarity 197, Y-linked, member 9 Y Y p11.2 6190045 6192364 - 6130045 6132240 - 100132932 AC006335;XM_001716169 XP_001716221 family with sequence similarity 197, Y-linked, member 9 protein-coding 37477 MODEL 2801509 FAM197Y4 family with sequence similarity 197, Y-linked, member 4 Y p11.2 9320333 9322527 - 100289188 AC006156;XM_002344200 XP_002344241 family with sequence similarity 197, Y-linked, member 4 protein-coding 37466 MODEL 1605044 FAM192A family with sequence similarity 192, member A 16 16 16 q13 41686193 41719798 - 55743879 55777477 - 57186378 57219976 - 6480464 16381901;16344560;15489336;15489334;14702039;12477932;11256614;11230166;11076863;19471022;21139048;21693764;21890473;21906983;19322201;22645275 80011 H3BMX9;H3BN22;H3BNK9;H3BP64;H3BPF9;H3BPH9;H3BQQ6;H3BSF0;H3BSY6;H3BTI2;H3BTP8;H3BU93;H3BUL4;Q6P4H7;Q9GZU8 ABBA01025262;ABBA01025263;AC009090;AF212249;AF271785;AF356585;AK023291;AK025452;AL834421;AMYH01007694;AMYH01007695;BC020536;BC063409;BC071952;BI545617;CA308353;CH471092;DB101263;NM_024946 AAG44796;AAH20536;AAH63409;AAH71952;AAK14932;AAK43697;ABM82615;ABM85909;BAB14512;BAB15136;CAD39082;CAL37989;CAL38239;EAW82904;EAW82905;EAW82906;EAW82907;EAW82908;NP_079222;Q9GZU8 Hs.396740 1684997;1689630;1689688;1736602;1754767;1783322;1858012;2130513;2219996;5491425 D16S2598E;MARC_11597-11598:1002738517:1;NIP30__6054;RH65278;RH70729;RH75360;SHGC-111288;SHGC-33215;SHGC-34581;SHGC-60612 C16orf94;CDA018;CDA10;FLJ21799;MGC74898;NIP30 NEFA-interacting nuclear protein NIP30;protein FAM192A protein-coding ENSG00000172775 29856 11389 VALIDATED 2795936 FAM197Y8 family with sequence similarity 197, Y-linked, member 8 Y p11.2 9190859 9193055 - 100287798 AC006158;XM_002344440 XP_002344481 family with sequence similarity 197, Y-linked, member 8 protein-coding 37470 MODEL 2881558 FAM199YP family with sequence similarity 199, Y-linked, pseudogene Y Y Y p11.2 2397390 2397580 - 6878366 6878756 + 6818467 6818657 + 12815422;9847074 360029 AC012068;NG_002952 1655574 L77856 FAM199Y pseudo 23951 INFERRED 1603840 FAM195B family with sequence similarity 195, member B 17 17 q25.3 76383760 76394631 - 79780293 79791167 - 6480464 12477932;21139048;21890473 348262 C9JLW8;I3L2L5;I3L317;I3L3A7;I3L3C1;I3L4Q0 ABBA01019647;AC145207;AC174470;AK000852;AK125584;AMYH01008720;AMYH01008721;BC017108;BC019318;BC041068;BC063557;BC094876;BC111795;BX649156;CH471099;NM_001093767;NM_207368 BAC86211;C9JLW8;EAW89687;EAW89688;NP_001087236;NP_997251 Hs.514632 1743795 GDB:373736 DKFZp686A17165;MGC133184 hypothetical protein LOC348262;protein FAM195B APPROVED protein-coding ENSG00000225663 28007 14179 VALIDATED 2290515 FAM196A family with sequence similarity 196, member A 10 10 10 q26.2 122603898 122664608 - 128823680 128884412 - 128933690 128994422 - 6480464 12477932 642938 B7ZME7;Q6ZSG2 ABBA01009079;AK127465;AL390920;AMYH01003170;AMYH01003171;BC131825;BC137112;BC144478;NM_001039762 AAI31826;AAI37113;AAI44479;BAC86991;NP_001034851;Q6ZSG2 Hs.613882 1662190 G17523 C10orf141;FLJ45557 OTTHUMP00000224904;hypothetical protein LOC642938;protein FAM196A APPROVED protein-coding ENSG00000188916 33859 VALIDATED 1346193 FAM195A family with sequence similarity 195, member A 16 16 16 p13.3 892017 898642 + 631850 638475 + 691849 698474 + 6480464 15616553;15489334;14702039;12477932;16169070;22190034 84331 I3L172;Q9BUT9 ABBA01030359;AF386504;AK054811;AL022341;AMYH01006999;BC001912;BC007346;BC010562;BC111391;CH471112;NM_138418 AAH01912;AAI11392;AAK67346;EAW85779;EAW85780;EAW85781;EAW85782;NP_612427;Q9BUT9 Hs.706105 1697220;5022450 D10S275;RH102102 C16orf14;MGC104301;MGC15416;c349E10.1 OTTHUMP00000045702;hypothetical protein LOC84331;protein FAM195A APPROVED protein-coding ENSG00000172366 14142 17503 PREDICTED 1606802 FAM198A family with sequence similarity 198, member A 3 3 3 p22.1 42958596 43036717 + 42995763 43074211 + 43020759 43099207 + 6480464 14702039;16344560;17974005;20379614;23251661 729085 F5H4W4;Q9UFP1 ABBA01024760;AC092042;AK091001;AK311059;AK311069;AL117530;AMYH01013116;BQ006782;DA262563;NM_001129908 BAG52260;CAB55980;NP_001123380;Q9UFP1 Hs.729533 1755765;2112592 D3S4357;SHGC-142613 C3orf41;DKFZP434B172;FLJ27464;FLJ33682;MGC141710 OTTHUMP00000209914;OTTHUMP00000209915;OTTHUMP00000238526;hypothetical protein LOC729085;protein FAM198A APPROVED protein-coding ENSG00000144649 24485 VALIDATED 1354085 FAM19A3 family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p13.2 111493881 111500551 + 113064712 113071380 + 113263189 113269857 + 6480464 16710414;15028294;12477932;12107411 284467 Q7Z5A8 ABBA01068416;AL603832;AMYH01000949;AY325116;AY325119;BC112268;BC117479;BC143949;BC144042;BC144043;BQ638101;CH471122;NM_001004440;NM_182759 AAI12269;AAI17480;AAI44044;AAP92408;AAP92411;ADR83487;EAW56548;EAW56549;NP_001004440;NP_877436;Q7Z5A8 Hs.439116 MGC138473;RP11-426L16.6;TAFA-3;TAFA3 OTTHUMP00000013811;OTTHUMP00000013812;chemokine-like protein TAFA-3;family with sequence similarity 19 (chemokine (C-C motif)-like), member A3;protein FAM19A3 APPROVED protein-coding ENSG00000184599 21590 16877 REVIEWED 1605394 FAM198B family with sequence similarity 198, member B 4 4 4 q32.1 156388183 156436659 - 159265211 159313652 - 159045732 159094202 - 6480464 16381901;16344560;15489336;14702039;12975309;12477932;11256614;11230166;11076863 51313 K7EK71;K7EN70;K7ESC5;Q6UWH4;Q9NYZ0 ABBA01070202;AC098679;AF223468;AF260333;AK095474;AK172805;AK304112;AK315768;AL832589;AL834177;AMYH01014641;AMYH01014642;AY358785;BC017701;BC043193;BC045710;BC100016;BX489659;CH471056;CR457196;DA887770;NM_001031700;NM_001128424;NM_016613 AAF64143;AAG44664;AAH17701;AAH43193;AAI00017;AAQ89145;BAD18776;BAG38120;BAG65014;CAD38874;CAG33477;CAL37418;CAL37582;EAX04863;EAX04864;NP_001026870;NP_001121896;NP_057697;Q6UWH4 Hs.567498 1647939;1714927;2137124;2137126;2156732 D4S2598E;G33826;RH120458;SHGC-24109;SHGC-67805 AD021;AD036;C4orf18;DKFZp434L142;FLJ23966;FLJ38155 OTTHUMP00000220346;OTTHUMP00000220347;OTTHUMP00000220349;OTTHUMP00000220350;expressed in nerve and epithelium during development;hypothetical protein LOC51313;protein ENED;protein FAM198B APPROVED protein-coding ENSG00000164125 25312 13194 VALIDATED 1347131 FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] 3 3 3 p14.1 67995186 68536291 + 68136144 68677462 + 68040734 68594772 + 6480464 11256614;16381901;15489336;15489334;15028294;12477932;11230166;11076863;20664687;16344560 407738 Q7Z5A9 ABBA01030887;ABBA01030888;ABBA01030889;ABBA01030890;ABBA01030891;ABBA01030892;ABBA01030893;ABBA01030894;AC092416;AC104167;AC104443;AC107626;AC126123;AC138390;AC139766;AK289668;AK290446;AL713702;AMYH01013258;AMYH01013259;AMYH01013260;AY325114;BC025746;BX460561;CH471055;DA484048;DA485098;NM_001252216;NM_213609 AAH25746;AAP92406;BAF82357;BAF83135;CAD28501;CAL38734;EAW65460;NP_001239145;NP_998774;Q7Z5A9 Hs.655061;Hs.731727 1660011;1684772;1713913;1725035;1725455;1784596;1855402;2111196;2115539;2139469;2139645;2142009;2178524 092YH7;D3S1748E;D3S2845E;D3S2985;D3S3079;D3S3355;RH118814;RH119123;RH119386;RH65216;SHGC-111502;STS-W37517;WI-15458 TAFA-1;TAFA1 OTTHUMP00000213370;OTTHUMP00000213371;chemokine-like protein TAFA-1;family with sequence similarity 19 (chemokine (C-C motif)-like), member A1;protein FAM19A1 APPROVED protein-coding ENSG00000183662 21587 13294 REVIEWED 1348985 FAM199X family with sequence similarity 199, X-linked X X X q22.2 103885924 103910751 + 103297957 103322783 + 103411156 103440583 + 6480464 18029348;15772651;15489334;14702039;12477932;21890473;19322201 139231 B0QYU2;Q6PEV8 ABBA01019067;ABBA01019068;ABBA01019069;AI571005;AK024844;AK091221;AL049631;AL135959;AMYH01022808;BC016683;BC017665;BC035886;BC057847;CH471120;NM_207318 AAH16683;AAH17665;AAH57847;BAG52310;EAX02757;EAX02758;EAX02759;EAX02760;NP_997201;Q6PEV8 Hs.496535 1655574;1696922 L77856;RH101929 CXorf39 OTTHUMP00000023766;family with sequence similarity 199, X-linked;hypothetical protein LOC139231;protein FAM199X APPROVED protein-coding ENSG00000123575 25195 10045 VALIDATED 1346449 FAM201A family with sequence similarity 201, member A 9 9 9 p13.1 38557398 38559594 + 38611085 38614986 + 38621085 38623281 + 737633 12477932 15164053 158228 Q5SY85 ABBA01050374;AL591543;AMYH01019367;BC036230;BC041970;BC067887;NR_027294 Q5SY85 Hs.632652 C9orf122 APPROVED miscrna 27239 PREDICTED 4106454 FAM201C family with sequence similarity 201, member C Y Y q11.1 11711502 11768207 + 13251502 13263811 + 100132230 ABBA01005182;AC140113 2125824;2137335 D21S1424;G34776 pseudo 37996 MODEL 4106455 FAM202A family with sequence similarity 202, member A 1 1 1 q32.1 175645372 175650806 + 200785449 200785832 + 202518232 202523666 + 100128726 Q6ZP08 AC099336;AK130276;NR_038451;XM_003118500;XM_003119763;XM_003120845 BAC85317;Q6ZP08;XP_003118548;XP_003119811;XP_003120893 Hs.727991 family with sequence similarity 202, member A miscrna 38095 VALIDATED 4106183 FAM202B family with sequence similarity 202, member B Y Y q11.23 9294265 9294652 - 28368734 28369121 - 9847074 100286899 AC006991;NG_029046 pseudo 38000 INFERRED 4105864 FAM202C family with sequence similarity 202, member C Y q11.223 25593786 25594173 + 9847074 100287695 AC009947;NG_029047 pseudo 38532 INFERRED 1345895 FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] 12 12 12 q14.1 61771461 62255544 - 60388307 60872818 - 62102029 62586620 - 6480464 19240061;15489334;15028294;12477932;20379614;21348951;16344560;23251661 338811 F8VVD7;F8VVF9;F8VWB2;F8VZY8;Q8N3H0 ABBA01026638;ABBA01026639;ABBA01026640;ABBA01026641;ABBA01026642;ABBA01026643;AC020647;AC078789;AC078872;AC130414;AC137053;AK123580;AL834160;AMYH01004534;AMYH01004535;AMYH01004536;AMYH01004537;AW161831;AY325115;BC028403;BC040286;BC050347;BX110188;CH471054;CR749367;DA242708;DA721025;DB535669;NM_178539 AAH28403;AAH40286;AAP92407;BAG53916;CAD38865;CAH18220;EAW97100;EAW97101;EAW97102;NP_848634;Q8N3H0 Hs.269745;Hs.604626 1337053;1337648;1714457;1715467;1746119;1746741;1746951;1749129;1750693;1752629;1790241;1850082;2126638 D12S1726;D12S2003;D12S298;G64378;G64812;G64813;RH119739;RH120898;S0006;SHGC-106492;SHGC-110808;SHGC-112175;WI-3818 DKFZp761E1217;DKFZp781P0552;MGC42403;TAFA-2;TAFA2 OTTHUMP00000243233;chemokine-like protein TAFA-2;family with sequence similarity 19 (chemokine (C-C motif)-like), member A2;protein FAM19A2 APPROVED protein-coding ENSG00000198673 21589 16876 REVIEWED 2291788 FAM203B family with sequence similarity 203, member B 8 8 q24.3 145408688 145411765 + 145437886 145440831 + 16421571 728071 E9PIX0;E9PPP0;P0CB43;Q9BTY7 AC110280;AMYH01019128;AMYH01019129;XM_001126758;XM_003960433 P0CB43;XP_001126758;XP_003960482 2127710;2151414 RH11627;SGC31287 BRP16L;C8orf30B OTTHUMP00000228459;brain protein 16-like;chromosome 8 open reading frame 30B;family with sequence similarity 203, member B;protein FAM203B APPROVED protein-coding ENSG00000230567 32323 MODEL 1342880 FAM19A5 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008] 22 22 22 q13.32 32799018 33062366 + 47428841 47533750 + 48885288 49147744 + 6480464 12975309;15489334;15028294;12477932;10591208;9110174;8889548;8619474;20379614;22158540 25817 B1B1J6;Q8IXR8 ABBA01031359;ABBA01031360;ABBA01031361;ABBA01031362;AF131851;AK123443;AK125256;AL096843;AL096853;AL954745;AMYH01012875;AMYH01012876;AMYH01012877;AY325118;AY358847;BC039396;BU739734;BX927063;CH471138;CR391954;CR450365;CR456636;DB481230;NM_001082967;NM_015381;Z83837;Z84468 AAD20061;AAH39396;AAP92410;AAQ89206;BAG53905;BAG54175;EAW73462;EAW73463;NP_001076436;NP_056196;Q7Z5A7 Hs.436854 1336946;1699022;1726619;1728565;1781092;2131543 AL022479;D22S1161;G62544;G63572;RH103084;stD22S34 QLLK5208;TAFA-5;TAFA5;UNQ5208 OTTHUMP00000197027;OTTHUMP00000197028;OTTHUMP00000197029;TAFA protein 5;chemokine-like protein TAFA-5;family with sequence similarity 19 (chemokine (C-C motif)-like), member A5;protein FAM19A5 APPROVED protein-coding ENSG00000219438 21592 13295 VALIDATED 5133148 FAM204BP family with sequence similarity 204, member B, pseudogene 1 1 170838799 170839495 - 197715885 197716581 - 100420875 ABBA01027587;AL365258;AMYH01001625;NG_027030 1662001;2156307 G22405;SHGC-76092 pseudo 42011 INFERRED 5133146 FAM204CP family with sequence similarity 204, member C, pseudogene 13 13 57160547 57161190 - 76262690 76263333 - 100420916 ABBA01021649;AL137782;AMYH01005215;NG_024869 2189521 RH143414 pseudo 42012 INFERRED 5133145 FAM204DP family with sequence similarity 204, member D, pseudogene 14 14 57678016 57678593 - 77639418 77639995 - 100420963 ABBA01030663;AC007375;AMYH01005879;NG_027293 pseudo 42013 INFERRED 1345564 FAM19A4 family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011] 3 3 3 p14.1 68709246 68909796 - 68863607 69064401 - 68780915 68981761 - 6480464 14702039;15489334;15028294;12477932;19851296;20198315;20379614;21832049;16344560 151647 C9JUW7;Q96LR4 ABBA01030896;ABBA01030897;AC096922;AC104166;AC109587;AK057890;AMYH01013260;AY325117;BC031566;CH471055;DA017279;NM_001005527;NM_182522 AAH31566;AAP92409;ADZ16078;BAB71606;EAW65463;EAW65464;NP_001005527;NP_872328;Q96LR4 Hs.187873;Hs.736925 1750545;1784608;2112660;2113738;2120468;2122891;2161224 AB063062;D3S2987;D3S3540;D3S4391;L18063;SHGC-111854;SHGC-112013 FLJ25161;TAFA-4;TAFA4 OTTHUMP00000213368;chemokine-like protein TAFA-4;family with sequence similarity 19 (chemokine (C-C motif)-like), member A4;protein FAM19A4 APPROVED protein-coding ENSG00000163377 21591 08343 REVIEWED 2302157 FAM205B family with sequence similarity 205, member B 9 9 9 p13.2 34761726 34770045 - 34821941 34825789 - 34830264 34838583 - 389715 Q5VUL8;Q63HN1 ABBA01065004;AK128180;AL080137;AL162231;AL589645;AMYH01019341;BX648118;NR_024481 BAC87313;CAH56187 Hs.713965;Hs.725618 1762611 SHGC-146416 C9orf144;DKFZp434J193 APPROVED pseudo 24504 VALIDATED 5487895 FAM205CP family with sequence similarity 205, member C, pseudogene 9 9 p13.3 34879061 34885775 - 34889105 34895737 - 15164053 100129969 A6NFA0;M0QYJ3 ABBA01065003;AL355377;AMYH01019341;NG_027513 A6NFA0 pseudo 42673 INFERRED 5477831 FAM205A family with sequence similarity 205, member A 9 9 p12 34713048 34719766 - 34723050 34729535 - 20379614 259308 B4DY95;Q6ZU69 ABBA01065006;AK125949;AK302320;AL162231;AMYH01019340;AMYH01019341;BX104598;DC402407;DC403775;NM_001141917 BAC86357;BAG63657;NP_001135389;Q6ZU69 Hs.522093 1762611 SHGC-146416 C9orf144B;FLJ58301 OTTHUMP00000212552;protein FAM205A;transmembrane protein C9orf144B protein-coding ENSG00000205108 41911 VALIDATED 5489266 FAM206BP family with sequence similarity 206, member B, pseudogene 13 13 q14.13 45742213 45742758 + 46844212 46844757 + 390403 ABBA01050985;AL139801;AMYH01005093;NG_011392 FLJ21562 pseudo 39851 INFERRED 4106791 FAM201B family with sequence similarity 201, member B 2 2 q21.2 132823305 132828882 + 133106790 133110894 + 12477932;20379614 339742 Q86VD6 AC097532;BC045732;XM_003120760;XM_929883 AAH45732;Q86VD6;XP_003120808;XP_934976 Hs.98178 2126127 D2S2051 family with sequence similarity 201, member B protein-coding 27933 MODEL 5489091 FAM207BP family with sequence similarity 207, member B, pseudogene 13 13 q11 18165434 18169826 + 19271145 19271651 + 729535 ABBA01068526;AL359737;AMYH01004930;NG_021965 pseudo 39715 INFERRED 3130454 FAM200B family with sequence similarity 200, member B 4 4 4 p15.32 16147982 16156700 + 15292450 15301168 + 15683352 15692070 + 12477932;14702039;15815621;16344560 285550 D6RAC6;P0CF97 ABBA01032572;AC114744;AK124651;AMYH01014021;BC017971;BC035074;BC048993;BQ004196;DA408954;NM_001145191 NP_001138663;P0CF97 Hs.399980;Hs.619367;Hs.731718 1651872;1664790;1685638;1686256;1703226;2121998;2170179;2185478;5016781 RH94215;RH98624;SGC31945;SHGC-50493;SHGC-53928;SHGC-59190;SHGC-67307;STS-H96902;WI-11209 OTTHUMP00000217966;OTTHUMP00000217967;putative protein FAM200B protein-coding 27740 VALIDATED 1604968 FAM200A family with sequence similarity 200, member A This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93878152 93883986 - 98981859 98987470 - 99143923 99149757 - 6480464 16314882;15489334;14702039;12690205;12477932;10607616;21832049 221786 J3QT35;Q8TCP9 AACC02000084;ABBA01013255;ABBA01013256;AC005020;AK024526;AK094113;AK290724;AK315452;AL713672;AMYH01017721;AMYH01017722;BC009536;BC040214;BC126337;BC130371;CH236956;CH471091;CV569355;NM_145111 AAH40214;AAI26338;AAI30372;ADR83215;ADR83377;BAC04288;BAF83413;BAG37839;CAD28478;EAL23872;EAW76652;EAW76653;NP_659802;Q8TCP9 Hs.596587 1682894;5021872;5037552 D8S2279;RH92422;sY3084 C7orf38;DKFZp727G131;FLJ36794 OTTHUMP00000210467;OTTHUMP00000210468;hypothetical protein LOC221786;protein FAM200A APPROVED protein-coding ENSG00000221909 25401 13221 VALIDATED 5489119 FAM207CP family with sequence similarity 207, member C 21 21 q11.2 14085534 14087504 + 15164956 15165459 + 727987 ABBA01057063;AL109748;AMYH01012135;NG_021995 pseudo 42676 INFERRED 1313564 FAM204A family with sequence similarity 204, member A 10 10 10 q26.11 113799164 113832438 - 120058562 120091808 - 120068572 120101839 - 737633;6480464 12477932 16344560;16341674;15489334;14702039;16385451;20379614;17207965 63877 F2Z2Y3;Q5T374;Q9H8W3 ABBA01062932;AK023250;AK026630;AL365498;AMYH01003106;BC023577;BM837313;CH471066;CR457304;DA168924;NM_001134672;NM_022063 AAH23577;ADQ32244;BAB14487;BAB15514;CAG33585;EAW49416;EAW49417;EAW49418;NP_001128144;NP_071346;Q9H8W3 Hs.372309 1655559;1662001;1683693;1701428;1754529;2156307;2189521 G22405;RH104346;RH143414;RH93408;SHGC-132812;SHGC-52428;SHGC-76092 C10orf84;FLJ13188;RP11-319I23.1;bA319I23.1 OTTHUMP00000020580;OTTHUMP00000020581;OTTHUMP00000020582;hypothetical protein LOC63877;protein FAM204A APPROVED protein-coding 25794 12593 VALIDATED 1352417 FAM206A family with sequence similarity 206, member A 9 9 9 q31.3 82195874 82202439 + 110736282 110743059 + 111696673 111703238 + 6480464 12477932;15607035;17207965;21906983 54942 Q9NX38 ABBA01042777;AF153417;AK000464;AK310297;AL354797;AMYH01021618;BC015795;BC051827;CH471105;NM_017832 AAG43367;AAH15795;ADQ32640;BAA91183;EAW59032;EAW59033;EAW59034;NP_060302;Q9NX38 Hs.29276 1683002 RH70720 C9orf6;CG-8;FLJ20457 OTTHUMP00000021876;OTTHUMP00000021877;hypothetical protein LOC54942;protein FAM206A APPROVED protein-coding ENSG00000119328 1364 07911 VALIDATED 1602718 FAM203A family with sequence similarity 203, member A 8 8 8 q24.3 141536483 141538889 + 145264660 145267607 + 145192672 145195620 + 6480464 16169070;15489334;14702039;12477932;11042152;20562859;22863883;21139048;22190034;22797925 51236 E9PIX0;Q9BTY7 ABBA01005223;AC104592;AF151022;AK098226;BC003035;BC009915;BC015471;CH471162;NM_016458 AAF36108;AAH03035;AAH09915;AAH15471;BAG53598;EAW82148;NP_057542;Q9BTY7 Hs.300224 2127710;2151414 RH11627;SGC31287 BRP16;C8orf30A;FLJ40907 OTTHUMP00000229053;brain protein 16;protein FAM203A APPROVED protein-coding ENSG00000235173 24161 17423 PROVISIONAL 1343867 FAM208B family with sequence similarity 208, member B 10 10 10 p15.1 5657202 5736083 + 5766807 5846949 + 5726801 5805703 + 737633;6480464 12477932 16189514;14702039;22586326;17267499;21145461;20360068;21139048;21890473;21906983 54906 J3KPH3;Q9H996 AB095927;ABBA01034771;ABBA01034772;AK000367;AK022966;AK024762;AK027014;AK091392;AK095469;AK128051;AK128055;AK128151;AK128211;AK225352;AK309877;AL365356;AL596094;AL832762;AMYH01002002;BC001759;BC016688;BC020304;BC071976;BC110339;BX649177;CR936780;NG_021250;NM_017782 AAH01759;AAH71976;AAI10340;AAI66686;BAA91115;BAB14336;BAB14993;BAB15627;BAC23103;BAC87251;NP_060252;Q5VWN6 Hs.610717 1643774;1647105;1676091;1689390;1713131;1854978;2144833;5016596;5016851;5024039 D16S325;GDB:631802;RH120352;RH80031;RH92215;RH98745;SHGC-36813;STS-N23452;STS-N27868;STS-R55623 C10orf18;DKFZp781E1986;FLJ20360;bA318E3.2 OTTHUMP00000019009;hypothetical protein LOC54906;protein FAM208B;uncharacterized protein C10orf18 APPROVED protein-coding ENSG00000108021 23484 VALIDATED 1322474 FAM20B family with sequence similarity 20, member B 1 1 1 q25 152103945 152154570 + 177261697 177312321 + 178995074 179045702 + 737633;6480464 12477932 19473117;16428749;15676076;15489334;11483207;10760811;9455484;9455477;20237496;19322201;23246001 9917 O75063 AB007944;AB480690;ABBA01027824;ABBA01027825;AK289989;AL139132;AMYH01001528;BC046441;BC051794;CA844342;CH471067;NM_014864 AAH46441;AAH51794;BAA32320;BAF82678;BAH79819;EAW91034;EAW91035;EAW91036;NP_055679;O75063 Hs.711441 2145725;2148388;2170198;2175152;2187407;5015961;5022200 A006M42;A006O17;D15S1477;L18426;SHGC-30547;SHGC-75952;SHGC-75993 gxk1 OTTHUMP00000033047;glycosaminoglycan xylosylkinase;xylose kinase protein-coding ENSG00000116199 23017 13297 611063 VALIDATED 1342812 FAM209B family with sequence similarity 209, member B 20 20 20 q13.31 51848734 51852008 + 54541709 54544983 + 55108302 55111576 + 6480464 15489334;12509440;12477932;11780052;23251661 388799 Q5JX69 ABBA01052896;AL109806;AMYH01012005;BC014951;BC105792;CH471077;DB452055;DB517586;NM_001013646 AAI05793;EAW75534;EAW75535;NP_001013668;Q5JX69 Hs.287759 5020414;5024756;5037552 D8S2279;L17688;RH80030 C20orf107;MGC104273;dJ1153D9.4 OTTHUMP00000031352;hypothetical protein LOC388799;protein FAM209B;uncharacterized protein C20orf107 APPROVED protein-coding ENSG00000213714 16101 18388 VALIDATED 1322617 FAM207A family with sequence similarity 207, member A 21 21 21 q22.3 31466458 31503452 + 45184383 45221316 + 46359955 46396888 + 6480464 16964243;15635413;15489334;12477932;11790298;11707072;10830953;17207965;21693764;21906983 85395 C9JJU7;Q9NSI2 ABBA01074179;AF391113;AF391114;AL163301;AL844908;AMYH01012301;AP001505;BC009341;CH471079;NM_058190 AAH09341;AAL34504;AAL34505;ADQ32641;CAB90492;EAX09367;EAX09368;EAX09369;EAX09370;EAX09371;EAX09372;NP_478070;Q9NSI2 Hs.410830 1790615 STS_CEB246 C21orf70;PRED56 OTTHUMP00000115333;OTTHUMP00000115334;hypothetical protein LOC85395;protein FAM207A APPROVED protein-coding ENSG00000160256 15811 10765 PROVISIONAL 7204940 FAM210CP family with sequence similarity 210, member C, pseudogene 10 p12.1 27638644 27639219 - 100131328 ABBA01034391;AL355493;AMYH01002205;NG_022141 pseudo 44938 INFERRED 1604038 FAM208A family with sequence similarity 208, member A 3 3 3 p14.3 56619895 56682857 - 56629607 56673399 - 56654160 56717135 - 6480464 14702039;12477932;12421765;11149944;10470851;16169070;18726359;20379614;19471022;21139048;21890473;21906983;19322201;20881960 23272 Q9UK61 AB029028;ABBA01024442;ABBA01024443;ABBA01024444;AC099781;AF180425;AF273053;AK094486;AK307599;AMYH01013208;BC014569;BC029354;BC070096;BC129987;BI559851;BX648955;CH471055;NM_001112736;NM_015224 AAD55098;AAG34913;AAI29988;BAA83057;EAW65319;EAW65320;EAW65321;EAW65322;EAW65323;EAW65324;NP_001106207;NP_056039;Q9UK61 Hs.116877 1677290;1684548;1726891;2123143;2151630;5014051;5037552;5109527 D3S2752E;D3S2886E;D8S2278;D8S2279;G62688;RH98424;RH98805;SHGC-77020 C3orf63;DKFZp686C2456;KIAA1105;RAP140;se89-1 CTCL tumor antigen se89-1;OTTHUMP00000213553;OTTHUMP00000213554;OTTHUMP00000213558;protein FAM208A;retinoblastoma-associated protein 140;retinoblastoma-associated protein RAP140;uncharacterized protein C3orf63 APPROVED protein-coding ENSG00000163946 30314 10183 VALIDATED 1317211 FAM209A family with sequence similarity 209, member A 20 20 20 q13.31 51840217 51841640 + 54532955 54534605 + 55099785 55101208 + 6480464 15489334;12477932;11780052;8889548 200232 Q5JX71 ABBA01052895;AL109806;AL833715;AMYH01012005;BC029411;BC070179;BC107704;BU738481;BX335293;NM_001012971 AAH29411;AAI07705;NP_001012989;Q5JX71 Hs.504907 C20orf106;MGC104272;dJ1153D9.3 OTTHUMP00000031351;hypothetical protein LOC200232;protein FAM209A;uncharacterized protein C20orf106 APPROVED protein-coding 16100 18536 VALIDATED 1352066 FAM210A family with sequence similarity 210, member A 18 18 18 p11.21 13545661 13607519 - 13653346 13716591 - 13663346 13726591 - 737633;6480464 12477932 16344560;14702039;19615732;20877624;22318606;22504420 125228 K7EK00;K7EPG9;K7ERQ2;Q96ND0 AA602175;ABBA01074042;AK055618;AK309506;AK309819;AMYH01008850;AMYH01008851;AP001010;AP001525;BU189118;CB987819;CH471113;DA560663;DA573992;DA895646;DA984075;NM_001098801;NM_152352 BAB70973;EAX01508;EAX01509;NP_001092271;NP_689565;Q96ND0 Hs.13034 1673122;1686610;1773138;1775226;2122225;2130357;2133137;5022383;5022578 D18S1228;D1S1423;ECD04345;FB14A10;RH65191;RH80402;SHGC-31363;SHGC-53804;STS-T67088 C18orf19;HsT2329;MGC24180 OTTHUMP00000162510;hypothetical protein LOC125228;protein FAM210A;uncharacterized protein C18orf19 APPROVED protein-coding ENSG00000177150 28346 10717 VALIDATED 1314939 FAM20A family with sequence similarity 20, member A This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] 17 17 17 q24.2 63103046 63168874 - 64044860 64108690 - 66531257 66597095 - 6480464 12477932;16344560;15676076;14702039;12975309;21549343;21990045;23185530;23468644 54757 B7Z4Y3;K7EIV7;K7EQL5;L8B8N7;Q8IYA5;Q96MK3 AB545606;ABBA01028956;ABBA01028957;AC079210;AF447872;AK056789;AK298071;AL133105;AMYH01008591;AMYH01008592;AMYH01008593;AY358197;BC036222;BC136686;BC136689;CB530015;CH471099;DB057818;N64017;NG_029809;NM_001243746;NM_017565;NR_027751 AAH36222;AAI36687;AAI36690;AAQ04647;AAQ88564;BAB71285;BAH12719;BAM78535;CAB61412;EAW89066;NP_001230675;NP_060035;Q96MK3 Hs.268874 1298335;1669031;1669033;1769320;1778027;2110395;2183975 A005M04;D17S2193;FAM20A__7627;G20323;RH46194;SHGC-56444;STS-W90672 AIGFS;DKFZp434F2322;FP2747 family with sequence similarity 20, member A;protein FAM20A APPROVED protein-coding 23015 13296 611062;614253 REVIEWED 1604449 FAM211A family with sequence similarity 211, member A 17 17 17 p11.2 16248226 16298391 - 16286053 16335889 - 16345319 16395505 - 6480464 14702039;12477932;20379614 388341 B7ZMA3;Q8NAA5 ABBA01035652;AC093484;AC127540;AI298465;AK093015;AL833245;AL833260;AMYH01008149;BC144381;BF966204;CH471222;DB460063;DN997688;NM_001113567;NM_207387 AAI44382;BAC04020;EAX04516;EAX04517;NP_001107039;NP_997270;Q8NAA5 Hs.25425 1685197;1686254;1686600;1687862;1754423;2117735;2160830;2170358;2170360 D17S1366E;D17S1661;RH36840;RH66249;RH79195;RH94093;RH94205;SHGC-132464;SHGC-3233 C17orf76;FLJ35696 OTTHUMP00000064962;OTTHUMP00000064963;leucine-rich repeat-containing protein C17orf76;leucine-rich repeat-containing protein FAM211A APPROVED protein-coding ENSG00000181350 32403 16939 VALIDATED 1323719 FAM20C family with sequence similarity 20, member C This gene encodes a member of the family with sequence similarity 20 (FAM20) family of secreted proteins. A similar gene in mice encodes a protein that plays a role in dentin mineralization, and mutations in the human gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Nov 2011] 7 7 7 p22.3 211215 273622 + 288052 304059 + 192969 300740 + 6480464;7240710 14702039;12690205;12477932;19250384;17924334;17369251;15676076;15489334;22582013;20643727;20825432;21900206;22900076 56975 L8B5W8;Q8IXL6 AA135568;AACC02000131;AACC02000132;AACC02000133;AACC02000134;AACC02000135;AACC02000136;AB545605;ABBA01015547;ABBA01039274;ABBA01039275;ABBA01039276;AC093627;AC145676;AC187652;AF533706;AK054704;AL390137;AL390147;AMYH01016928;AMYH01016929;BC009531;BC040074;BC087853;BQ026938;CH236966;CH471144;NM_020223 AAH40074;AAH87853;AAQ09019;BAM78534;CAB99089;EAL23705;EAW87149;EAW87150;EAW87151;EAW87152;EAW87153;EAW87154;EAW87155;EAW87156;EAW87157;NP_064608;Q8IXL6 Hs.134742 1762849;1765059;1790525;1790527;2165304 HSC178_(GAP_665_G);HSC179_(GAP_397_G);RH12122;SHGC-146618;SHGC-148600 DKFZp547C074;DMP-4;DMP4;GEF-CK;RNS DMP-4;OTTHUMP00000199937;OTTHUMP00000217831;dentin matrix protein 4;extracellular serine/threonine protein kinase Fam20C;golgi-enriched fraction casein kinase APPROVED protein-coding 22140 13298 259775;611061 REVIEWED 1603392 FAM212B family with sequence similarity 212, member B 1 1 1 p13.2 110511297 110545039 - 112069893 112099942 - 112264686 112298419 - 6480464 19047128;14702039;12477932;22087225;16344560;19851984;17207965;21832049 55924 E9PND8;E9PR53;Q9NTI7 ABBA01068399;AK055667;AK092074;AK094997;AK293989;AK295012;AL049557;AL137198;AL137199;AMYH01000947;BC031558;CH471122;DA306915;NM_019099;NM_198926 AAH31558;ADQ31659;BAG51550;BAG57355;BAG58072;CAB69908;CAB69909;EAW56504;EAW56505;NP_061972;NP_945120;Q9NTI7 Hs.193406 1334957;1670191;1699150;1722769;1856029;2121166;2123244;2131087;2167088;2169297;2175475;2175477;2186487;5092758 A005M10;A005Z45;D1S2837;G20328;G32311;G60323;L29973;RH103153;RH78081;SHGC-75290;SHGC-75320;SHGC-75322;SHGC-75331;WI-18529 C1orf183;FLJ31105 OTTHUMP00000013737;OTTHUMP00000231663;OTTHUMP00000231664;hypothetical protein LOC55924;protein FAM212B;uncharacterized protein C1orf183 APPROVED protein-coding ENSG00000197852 28045 14246 VALIDATED 1602805 FAM212A family with sequence similarity 212, member A 3 3 3 p21.31 49806165 49807990 + 49815691 49817467 + 49840687 49842463 + 6480464 15489334;12477932;20175189;17207965;21832049 389119 Q96EL1 ABBA01024574;AC139451;AMYH01013162;BC012170;CH471055;NM_203370 AAH12170;ADQ32632;EAW65022;NP_976248;Q96EL1 Hs.86674 1699234;1854966;2153220 RH103198;RH17798;SGC33684 C3orf54;INKA1;MGC20416 INKA1 protein;OTTHUMP00000212703;hypothetical protein LOC389119;protein FAM212A;uncharacterized protein C3orf54 APPROVED protein-coding ENSG00000185614 32480 14210 VALIDATED 1322807 FAM210B family with sequence similarity 210, member B 20 20 20 q13.2 51673330 51683066 + 54367390 54377126 + 54933983 54943719 + 6480464 19064572;16303743;15489334;12477932;11780052;8228263;20379614;21139048 116151 H0Y456;Q96KR6 ABBA01052891;AJ311123;AK075565;AK314768;AL121914;AL133555;AMYH01012005;BC017725;CH471077;CS051463;DB500825;L17329;NM_080821 AAH17725;BAC11704;BAG37306;CAC67490;CAI72223;EAW75563;EAW75564;EAW75565;NP_543011;Q96KR6 Hs.143736;Hs.593629 1671340;1671342;2166159;5022200;5022576 A005R26;D1S1361;G20442;L18426;RH47082 5A3;C20orf108;DKFZp434A1114;dJ1167H4.1 OTTHUMP00000031336;protein FAM210B;transmembrane protein C20orf108 APPROVED protein-coding ENSG00000124098 16102 12737 VALIDATED 1606646 FAM211B family with sequence similarity 211, member B 22 22 22 q11.23 8781332 8788778 - 23311591 23319035 - 24981591 24989035 - 6480464 18940312;15489334;14702039;12477932;21909109 388886 F8WCG9;F8WCZ7;Q2VPJ9 ABBA01055141;AK097054;AMYH01012668;AP000356;BC017595;BC032388;BC108684;BI544432;CH471095;DB535827;NG_008111;NM_207644 AAH17595;AAH32388;AAI08685;BAC04937;EAW59674;EAW59675;EAW59676;NP_997527;Q2VPJ9 Hs.113314 C22orf36;MGC131773 OTTHUMP00000198391;leucine-rich repeat-containing protein C22orf36;leucine-rich repeat-containing protein FAM211B APPROVED protein-coding ENSG00000178026 33155 14208 VALIDATED 1320148 FAM213A family with sequence similarity 213, member A 10 10 10 q23.1 76158574 76183083 + 82158222 82182733 + 82167585 82192753 + 737633;6480464 12477932 16303743;18029348;16344560;15489334;14702039;12975309;11483580;8125298;14710190;20877624;19951071;21832049;15146197;21139048;21890473 84293 Q9BRX8 AA829725;ABBA01003801;AC021028;AF086462;AF305824;AI589570;AK022598;AK027858;AK074643;AK075447;AK126292;AK225387;AK315440;AL359195;AMYH01002882;AY359059;BC005871;BC024308;BC034631;BC045777;BC071938;BE742158;CN396006;CQ782618;CS072362;DA136257;DB494833;DB532554;NM_001243778;NM_001243779;NM_001243780;NM_001243781;NM_001243782;NM_032333 AAH05871;AAK55527;AAQ89418;BAC11108;BAC11627;BAG37828;CAF85885;CAI93500;NP_001230707;NP_001230708;NP_001230709;NP_001230710;NP_001230711;NP_115709;Q9BRX8 Hs.500333;Hs.718589 1691098;1730141;2175347;5015619;5015881;5015961;5016478;5024756;5037552;5111032 A005D17;D10S240E;D11S3114;D15S1477;D8S2279;GDB:335751;GDB:434012;RH80030;RH92421;STS-AA041282 C10orf58;FLJ12536;FLJ14952;FLJ44312;MGC4248;PAMM OTTHUMP00000019973;OTTHUMP00000019974;OTTHUMP00000019975;OTTHUMP00000019976;OTTHUMP00000019977;OTTHUMP00000019978;UPF0765 protein C10orf58;hypothetical protein LOC84293;peroxiredoxin (PRX)-like 2 activated in M-CSF stimulated monocytes;peroxiredoxin-like 2 activated in M-CSF stimulated monocytes;redox-regulatory protein FAM213A;redox-regulatory protein PAMM APPROVED protein-coding ENSG00000122378 28651 12580 VALIDATED 1322605 FAM214B family with sequence similarity 214, member B 9 9 9 p13.3 35036093 35047864 - 35094118 35105893 - 35104118 35115893 - 737633;6480464 12477932 11256614;16381901;16189514;15489336;14702039;11230166;11076863;10819331;21832049 80256 Q7L5A3 AB040972;ABBA01064997;AC004472;AK021622;AK022837;AK307682;AL353795;AL583909;AMYH01019341;BC004406;CH471071;NM_025182 AAC07982;AAH04406;BAA96063;BAB13857;BAG51123;CAC29493;CAL37915;EAW58386;EAW58387;EAW58388;EAW58389;EAW58390;EAW58391;EAW58392;EAW58393;NP_079458;Q7L5A3 Hs.301696 1775727;2132461;2132463 A005W26;G20553;RH78365 FLJ11560;KIAA1539;P1.11659_5;RP11-182N22.6;bA182N22.6 OTTHUMP00000021314;OTTHUMP00000021315;OTTHUMP00000021316;OTTHUMP00000021317;OTTHUMP00000021318;hypothetical protein LOC80256;protein FAM214B;uncharacterized protein KIAA1539 APPROVED protein-coding ENSG00000005238 25666 13869 PREDICTED 1606264 FAM214A family with sequence similarity 214, member A 15 15 15 q21.2-q21.3 29768567 29865870 - 50660810 50758112 - 52873518 52970820 - 6480464 16344560;12477932;10718198;14702039;20936779;22990118;22505724 56204 H0Y3Q9;H3BNT9;H3BQ29;H3BSJ2;H3BTD0;H3BU00;H3BUJ2;H3BVB3;Q6PDA3 AB037791;ABBA01039059;AC009754;AC025917;AK001842;AK292917;AK293730;AK293920;AK308049;AK308855;AL832519;AMYH01006653;BC040548;BC058839;BC073908;BC083498;BC109127;BC109128;CH471082;DB227522;NM_019600 AAH40548;AAH58839;AAH73908;AAH83498;AAI09128;AAI09129;BAA91936;BAA92608;BAF85606;BAG57156;BAG57301;CAH56350;EAW77457;EAW77458;EAW77459;EAW77460;NP_062546;Q32MH5 Hs.152385 1661048;1662230;1738963;2115190;2128570;2132530 D15S860;RH77759;SGC31343;SHGC-64266;STS-T68831;WI-16877 FLJ10980;KIAA1370;MGC126494;MGC126495 hypothetical protein LOC56204;protein FAM214A;uncharacterized protein KIAA1370 APPROVED protein-coding ENSG00000047346 25609 10965 VALIDATED 1607038 FAM216A family with sequence similarity 216, member A 12 12 12 q24.11 110532993 110554951 + 109390615 109412575 + 110906232 110928192 + 6480464 16344560;12477932;9110174;8619474 29902 B4DMY2;F5GZE4;F8VRE6;F8VS01;F8VXY8;Q8WUB2 ABBA01005109;ABBA01005110;AC002350;AK225731;AK296280;AK297684;AK308802;AK309603;AMYH01004743;AU129789;BC020967;BF114636;CH471054;CR457001;NM_013300;U79274 AAB50215;AAH20967;ABM82726;ABM85910;BAG58989;BAG60044;CAG33282;EAW97915;EAW97916;EAW97917;NP_037432;Q8WUB2 Hs.436618 1774188;2171065;5021369 L17796;RH45045;RH70708 C12orf24;HSU79274 OTTHUMP00000241430;OTTHUMP00000241431;hypothetical protein LOC29902;protein FAM216A;protein predicted by clone 23733;uncharacterized protein C12orf24 APPROVED protein-coding ENSG00000204856 30180 17119 VALIDATED 1603910 FAM213B family with sequence similarity 213, member B 1 1 1 p36.32 63098 67751 - 2508109 2512762 + 2517899 2522908 + 6480464 18029348;14702039;12477932;14710190;21297633;16344560;8889548;18006499;21900206;21139048;21890473;21906983 127281 J3KPF5;J3KPF6;J3KQD0;J3KRV9;J3QKK8;Q8N2H0 ABBA01016102;AF425266;AK057027;AK075273;AK094901;AK291908;AK298926;AK303504;AK308034;AK316243;AL139246;AL359575;AMYH01000177;BC022547;BI908668;BM976058;BQ709693;CH471183;CR749706;DA292832;DA495138;DC351872;DC407959;NM_001195736;NM_001195737;NM_001195738;NM_001195740;NM_001195741;NM_152371;NR_036637;NR_036638 AAH22547;AAP97295;BAC11511;BAF84597;BAG51845;BAG61031;BAG64537;BAH14614;EAW56083;EAW56084;EAW56085;EAW56086;EAW56087;EAW56088;NP_001182665;NP_001182666;NP_001182667;NP_001182669;NP_001182670;NP_689584;Q8TBF2 Hs.462033 2157232;2157234;5014053 A006A26;D1S3693;G20652 C1orf93;DKFZp547M123;MGC26818;RP3-395M20.10 OTTHUMP00000000968;OTTHUMP00000000969;OTTHUMP00000000970;hypothetical protein LOC127281;prostamide/PG F synthase;prostamide/PGF synthase;prostamide/prostaglandin F synthase APPROVED protein-coding ENSG00000157870 28390 14513 VALIDATED 2303434 FAM215A family with sequence similarity 215, member A (non-protein coding) 17 17 17 q21.31 38702615 38703394 + 39350102 39350881 + 41994576 41995355 + 6480464 16344560;15489334;12477932;10948432 23591 Q9Y5M1 ABBA01028395;AC007993;AF143236;AMYH01008409;BC069097;CH471178;DA188505;NR_026770 AAD31315;EAW51652;Q9Y5M1 Hs.721804 APR-2;C17orf88;LINC00530 APPROVED miscrna ENSG00000267496 17505 08497 VALIDATED 1345120 FAM217A family with sequence similarity 217, member A 6 6 6 p25.2 5297170 5307960 - 4013600 4024390 - 4068593 4079457 - 15489334;14702039;14574404;12477932;17207965 222826 C9J5H0;C9J6U0;Q8IXS0 ABBA01021998;AK097426;AL033383;AMYH01016039;BC039349;CH471087;HC006844;NM_173563 AAH39349;ADQ32977;BAG53470;CBH19227;EAW55152;EAW55153;EAW55154;NP_775834;Q8IXS0 Hs.657342 1697404 RH102202 C6orf146;MGC43581 OTTHUMP00000015980;OTTHUMP00000213689;hypothetical protein LOC222826;protein FAM217A;uncharacterized protein C6orf146 APPROVED protein-coding ENSG00000145975 21362 10789 VALIDATED 1605573 FAM216B family with sequence similarity 216, member B 13 13 13 q14.11 24413479 24423481 + 42253751 42263683 + 43355686 43365685 + 16344560;15489334;14702039;12477932;8889548 144809 Q8N7L0 ABBA01021248;AK098238;AK310859;AL137138;AL138819;AMYH01005075;AMYH01005076;BC093659;BC112237;CB240730;CH471075;DA592345;DB221838;NM_182508 AAH93659;AAI12238;ADR82823;BAC05268;EAX08682;NP_872314;Q8N7L0 Hs.16970 1338581;1649386;1771988 D13S1270;RH44530;STS-T93573 C13orf30;FLJ40919;MGC138442 OTTHUMP00000178587;hypothetical protein LOC144809;protein FAM216B;uncharacterized protein C13orf30 APPROVED protein-coding ENSG00000179813 26883 08289 VALIDATED 1323673 FAM217B family with sequence similarity 217, member B 20 20 20 q13.33 55249497 55264380 + 57948951 57955964 + 58508819 58523702 + 6480464 19322201;15489334;12477932;11780052;17207965;8889548 63939 A2A2M7;B4E2D0;Q9NTX9 ABBA01005956;AK074295;AK125073;AK304220;AL109928;AL137442;AMYH01012028;BC020771;BC054002;CB242399;CH471077;DB476861;NM_001190826;NM_001190827;NM_022106 AAH20771;AAH54002;ADQ32556;BAG54133;BAG65092;CAB70739;EAW75424;NP_001177755;NP_001177756;NP_071389;Q9NTX9 Hs.54973;Hs.596058 1697616;1796560;2126052;2133786;2156864;2156866;2187588;5022623 D11S2687;PPP1R3D_1243;RH102320;RH66085;SHGC-36268;STS-H96648;STS-N91895;WI-11651 C20orf177;dJ551D2.5 OTTHUMP00000031431;OTTHUMP00000174472;OTTHUMP00000174473;hypothetical protein LOC63939;protein FAM217B;uncharacterized protein C20orf177 APPROVED protein-coding ENSG00000196227 16170 12758 VALIDATED 1321800 FAM219B family with sequence similarity 219, member B 15 15 15 q24.1 52142296 52149430 - 72979381 72986515 - 75192328 75199462 - 737633;6480464 12477932 15489334;14702039;11214971;19322201 57184 H3BM86;H3BMU7;H3BMY2;H3BNG0;H3BPC2;H3BRU1;H3BSK2;Q5XKK7 ABBA01060507;AC125435;AK000005;AK001572;AK025373;AK291020;AK296403;AK308954;AMYH01006796;BC006348;BC015637;BC064575;BQ632184;CH471136;DC306755;NM_020447 AAH15637;BAA92230;BAF83709;BAG59069;EAW99289;EAW99290;EAW99291;EAW99292;EAW99293;EAW99294;NP_065180;Q5XKK7 Hs.367690 1650552;1698614;1736510;1766479;2120414;2133682;2135252;2182097;5015861;5022425;7185938 D10S16;D15S1329;D15S718E;D22S296;RH102862;RH77786;SHGC-149804;STS-N35913;STS-R00303;WI-20333 C15orf17;FLJ00005 hypothetical protein LOC57184;protein FAM219B;uncharacterized protein C15orf17 APPROVED protein-coding ENSG00000178761 24695 12667 VALIDATED 1346618 FAM21D family with sequence similarity 21, member D 10 10 q11.23 50857948 50862038 + 51187942 51192032 + 653450 Q5SRD0 AL672187;AMYH01002714;AMYH01002715;NG_012764 Q5SRD0 bA592B15.4 pseudo 23418 INFERRED 7207018 FAM21EP family with sequence similarity 21, member E, pseudogene 10 51816538 51819040 - 100421577 ABBA01003656;AL442003;AMYH01002708;NG_025438 pseudo 45010 INFERRED 7207019 FAM21FP family with sequence similarity 21, member F, pseudogene 10 q11.22 46197292 46221486 - 100288690 ABBA01050043;ABBA01050044;AL445201;AL645998;AMYH01002302 1659765;1687069 RH99214;SHGC-57273 pseudo 45011 MODEL 1602430 FAM218A family with sequence similarity 218, member A 4 4 4 q32.3 163210129 163212302 + 166097550 166099723 + 165878100 165880273 + 6480464 14702039;12477932;17207965;23251661 152756 Q96MZ4 ABBA01070287;AC106872;AK056221;AMYH01014673;BC022381;CH471056;NM_153027 AAH22381;ADQ32243;BAB71123;EAX04830;NP_694572;Q96MZ4 Hs.178648 C4orf39;FLJ31659 OTTHUMP00000219948;hypothetical protein LOC152756;protein FAM218A;uncharacterized protein C4orf39 APPROVED protein-coding ENSG00000250486 26466 08714 PREDICTED 6480581 FAM220CP family with sequence similarity 220, member C, pseudogene 9 99883941 99884718 + 100507415 ABBA01042939;AL445670;AMYH01021551 pseudo 43640 MODEL 1352446 FAM21B family with sequence similarity 21, member B 10 10 q11.22 47414029 47469423 + 47894023 47949417 + 16344560;15146197;14702039;8889549;8889548;22939629;20360068;21906983;15847701;20827171 55747 F5GY39;Q5SNT6 AA147749;ABBA01052472;ABBA01052473;ABBA01052474;AK125147;AK311628;AL954360;AMYH01002434;AMYH01002435;AMYH01002436;AMYH01002437;AMYH01002438;BE744488;BQ060891;BU690083;CN314884;CR994976;CX762870;DA313442;DA402580;DA466642;DC403380;NM_018232 CAI17187;CAI17188;NP_060702;Q5SNT6 Hs.365286;Hs.449662 5113677;5114099;5125870 Cda0qf11;D10S1470;SGC30331 FAM21A;bA98I6.1 OTTHUMP00000019527;WASH complex subunit FAM21B;family with sequence similarity 21, member A protein-coding ENSG00000152726 23417 VALIDATED 1603151 FAM21A family with sequence similarity 21, member A 10 10 q11.23 51497690 51563275 + 51827684 51893269 + 6480464 14702039;12477932;22863883;22939629;20360068;21139048;21906983;22354992;15847701;20827171 387680 B1AP61;E7ESD2;F8W7U3;Q5T1D7;Q641Q2;Q6P0Q7;Q9NVB8 ABBA01004385;ABBA01004386;AK001686;AK055424;AK295129;AK304116;AL080183;AL442003;AL450382;AMYH01002709;AMYH01002710;AMYH01002711;AMYH01002712;AMYH01002713;AMYH01002714;AMYH01002715;BC064639;BC065500;BC075815;BC082258;BC144479;NM_001005751 AAH65500;AAH75815;AAH82258;AAI44480;BAA91836;BAG58154;BAG65017;CAB45765;NP_001005751;Q641Q2 Hs.645272 bA56A21.1 OTTHUMP00000019607;OTTHUMP00000179015;WASH complex subunit FAM21A protein-coding ENSG00000099290 23416 17364 VALIDATED 1350147 FAM219A family with sequence similarity 219, member A The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010] 9 9 9 p13.3 34329683 34390068 - 34388182 34448568 - 34398182 34458568 - 6480464 17081983;15489334;15164053;14702039;12477932;9110174;8619474;16169070;16344560;20379614;21900206 203259 Q5T586;Q5T593;Q5T595 ABBA01065011;ABBA01065012;AF131828;AK022819;AK026087;AK091262;AK096350;AK123887;AK294054;AK299882;AL160270;AL356494;AL833397;AMYH01019336;BC015785;BC025348;BC041009;CH471071;DA110626;NG_027971;NM_001184940;NM_001184941;NM_001184942;NM_001184943;NM_001184945;NM_147202 AAH25348;AAH41009;BAG53270;BAG57402;BAG61730;EAW58454;EAW58455;NP_001171869;NP_001171870;NP_001171871;NP_001171872;NP_001171874;NP_671735;Q8IW50 Hs.493771 1758143;2151144 RH12896;SHGC-147519 C9orf25;FLJ39031;bA573M23.5 OTTHUMP00000021273;OTTHUMP00000021274;OTTHUMP00000021275;OTTHUMP00000021276;OTTHUMP00000021277;OTTHUMP00000021278;OTTHUMP00000021279;OTTHUMP00000159910;hypothetical protein LOC203259;protein FAM219A;uncharacterized protein C9orf25 APPROVED protein-coding ENSG00000164970 19920 12950 VALIDATED 1321320 FAM221B family with sequence similarity 221, member B 9 9 9 p13.3 35750546 35762276 - 35808429 35818744 - 35817014 35828744 - 6480464 12477932;11207361 392307 A6H8Z2;C9JPK8;F8W8N9 ABBA01064983;ABBA01064984;AF334830;AL133410;AMYH01019347;BC144503;BC146808;BX648702;CH471071;NM_001012446;NR_052026 A6H8Z2;AAI46809;EAW58329;EAW58330;NP_001012448 Hs.128075 2161260 D9S1165 C9orf128 OTTHUMP00000215615;hypothetical protein LOC392307;protein FAM221B;uncharacterized protein C9orf128 APPROVED protein-coding ENSG00000204930 30762 16675 VALIDATED 1347573 FAM223A family with sequence similarity 223, member A (non-protein coding) X X X q28 153959418 153960130 + 153452673 153453385 + 153799479 153800191 + 6480464 18029348 100132967 Q8IWN6 AC244090;AF277315;AMYH01023318;AY168775;NR_027401 AAO11658;Q8IWN6 Hs.391764 1842790;1843642;1845232;2102682;2102754;2120452 ECD22602;ECD23031;ECD23833;RH44897;stSG604151;stSG604197 CXorf52;LINC00204A;NCRNA00204;NCRNA00204A;SPCX APPROVED miscrna 30612 PREDICTED 1604475 FAM221A family with sequence similarity 221, member A 7 7 7 p15.3 23708513 23731017 + 23686347 23708793 + 23719749 23742269 + 6480464 12477932;8889548;17207965 340277 A4D161;B8ZZQ8;F8WCP2;F8WCP3 AACC02000007;ABBA01056714;ABBA01056715;ABBA01056716;AC006026;AK127774;AL832127;AMYH01017117;BC026000;BC042034;BC063130;BI549491;BU685256;BX106087;CA867596;CH236948;CH471073;NM_001127364;NM_001127365;NM_199136 A4D161;AAH26000;AAH42034;AAH63130;ADQ32129;EAL24251;EAW93797;EAW93798;EAW93799;EAW93800;EAW93801;EAW93802;EAW93803;EAW93804;NP_001120836;NP_001120837;NP_954587 Hs.592178 1693546;1699492;5014051;5015619;5015861;5015961;5016478;5016781;5020635;5020988;5022200;5022322;5022578;5022651;5024039;5037552;7185938 D10S16;D11S2560;D11S2921;D11S3114;D15S1477;D16S325;D1S1423;D22S958;D7S3207;D8S2278;D8S2279;GDB:434012;L18426;RH103339;SHGC-58460;SHGC-67307 C7orf46;DKFZp686F0810;FLJ45875;MGC72075 OTTHUMP00000158579;OTTHUMP00000202218;OTTHUMP00000202219;OTTHUMP00000202220;hypothetical protein LOC340277;protein FAM221A;uncharacterized protein C7orf46 APPROVED protein-coding ENSG00000188732 27977 14706 VALIDATED 1606484 FAM220A family with sequence similarity 220, member A 7 7 7 p22.1 6346541 6366073 + 6335565 6355115 - 6369040 6388590 - 6480464 15342556;14702039;12853948;12477932 84792 E9PQC6;E9PQY0;Q7Z4H9 AACC02000121;ABBA01056473;ABBA01056474;ABBA01056475;AC009412;AF533707;AK093156;AK311878;AMYH01017034;BC006110;BC140712;BC142977;BP354450;CH236963;CH878731;NM_001037163 AAH06110;AAI40098;AAI40713;AAI42978;AAQ09020;AAS07509;BAC04076;BAG34819;EAW55045;NP_001032240;Q7Z4H9 Hs.696146 1646195;1683803;1850404;2147453;5095207 Clen35;D7S2122E;G19861;GDB:1317180;RH66857 C7orf70;MGC12966;SIPAR OTTHUMP00000151177;OTTHUMP00000228482;STAT3-interacting protein as a repressor;protein FAM220A APPROVED protein-coding ENSG00000178397 22422 14427 VALIDATED 2975318 FAM224B family with sequence similarity 224, member B (non-protein coding) This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.221 5035674 5039970 - 18196435 18200726 - 19687041 19691332 - 401629 AC015978;AI819212;NG_004636;NR_002160 Hs.568127 LINC00230B;NCRNA00230B APPROVED miscrna 37737 VALIDATED 2975307 FAM224A family with sequence similarity 224, member A (non-protein coding) This locus is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y q11.222 18947807 18952104 + 20488419 20492713 + 401630 ABBA01007797;AC007241;AI670915;AK026667;BF476242;NG_004636;NR_002161 Hs.612916 FLJ23014;LINC00230A;NCRNA00230A APPROVED miscrna 37736 VALIDATED 2306331 FAM223B family with sequence similarity 223, member B (non-protein coding) X X q28 153513930 153514642 - 153860736 153861448 - 6480464 18029348;15772651 286967 A6NKX1 ABBA01029065;AC244107;AF277315;AMYH01023318;NR_027402 A6NKX1 Hs.562090 1842790;1843642;1845232;2102682;2102754;2120452 ECD22602;ECD23031;ECD23833;RH44897;stSG604151;stSG604197 CXorf52;CXorf52B;LINC00204B;NCRNA00204B APPROVED miscrna 34048 06724 PREDICTED 6482902 FAM222A-AS1 FAM222A antisense RNA 1 12 q24.11 110172014 110211292 - 12477932;16341674;16344560 84983 ABBA01005074;ABBA01005075;ABBA01005076;AC007834;AMYH01004738;BC007821;BQ684893;DA082338;NR_026661;NR_026662 Hs.675961 1711422 G42196 MGC14436 APPROVED miscrna ENSG00000255650 28223 VALIDATED 1354319 FAM226A family with sequence similarity 226, member A (non-protein coding) X X X q13.2 72340624 72342645 + 72078291 72088211 - 72161568 72163589 - 737633 12477932 203429 ABBA01046264;AC234776;AL353999;AMYH01022597;AMYH01022598;AMYH01022599;AMYH01022600;AMYH01022601;BC041962;NR_026595 ABM82563;ABM85753 Hs.676982 1667361;1789006 G65636;WI-14887 CXorf50;LINC00246A;NCRNA00246;NCRNA00246A APPROVED miscrna 28544 06648 PREDICTED 1349964 FAM21C family with sequence similarity 21, member C 10 10 q11.1 45542673 45608418 + 46222648 46288412 + 6480464 17081983;16964243;16713569;15489334;15302935;15164054;15144186;14702039;12477932;9628581;15146197;16344560;18550675;19922874;19922875;22939629;20923837;20360068;21906983;22513087;22070227;15847701;20827171 253725 A8K5W5;B3KMC4;J3KP36;Q9UG79 AB011164;ABBA01003655;ABBA01016378;ABBA01016379;AC012044;AI356516;AK001545;AK291430;AK293929;AK298385;AK303048;AL046783;AL050279;AL645998;AL731535;AMYH01002302;AMYH01002303;AMYH01002304;AMYH01002305;BC006456;BC039561;BC053887;BC150611;BM126842;BQ229875;CN314880;DB219301;DC317753;DC377099;NM_001169106;NM_001169107;NM_015262;XM_003960860 AAH06456;AAI50612;BAA25518;BAF84119;BAG50936;BAG57309;BAG60621;BAG64168;CAB43380;NP_001162577;NP_001162578;NP_056077;Q9Y4E1;XP_003960909 Hs.365286;Hs.449662 1659765;1687069;5113677;5114099;5125870 Cda0qf11;D10S1470;RH99214;SGC30331;SHGC-57273 FAM21A;KIAA0592;VPEF OTTHUMP00000019509;WASH complex subunit FAM21C;vaccinia virus penetration factor protein-coding ENSG00000172661 23414 11094 613631 VALIDATED 1605921 FAM222A family with sequence similarity 222, member A 12 12 12 q24.11 109776479 109832599 + 108656955 108692682 + 110152187 110208312 + 6480464 15489334;14702039;12477932 84915 Q5U5X8 ABBA01005074;ABBA01005075;ABBA01005076;AC007834;AK027627;AK074806;AMYH01004738;BC007844;BC020193;BC037221;CH471054;DN994281;NM_032829 AAH37221;BAB55244;BAC11219;EAW97874;EAW97875;NP_116218;Q5U5X8 Hs.661785 1711422 G42196 C12orf34;FLJ14721 OTTHUMP00000240598;hypothetical protein LOC84915;protein FAM222A;uncharacterized protein C12orf34 APPROVED protein-coding ENSG00000139438 25915 07868 VALIDATED 6767369 FAM227A family with sequence similarity 227, member A 22 q13.1 38974125 39052634 - 10591208;14702039;16344560;18029348;18669648 646851 F5H4B4;I3L0D2;Q5TG08 ABBA01055527;ABBA01055528;ABBA01055529;AK095080;AK301819;AL021707;AL022320;AL035495;AMYH01012764;DA378202;DB053353;DV080205;NM_001013647 BAH13562;F5H4B4;NP_001013669;Q5TG08 Hs.542707 5015619;5015861;5015961;5016478;5020229;5022588;5037552;5108775;7185938 D10S16;D11S3114;D15S1477;D3S1674;D5S1597E;D8S2279;GDB:434012;L17770 putative uncharacterized protein LOC388900 protein-coding ENSG00000184949 44197 VALIDATED 1344676 FAM225A family with sequence similarity 225, member A (non-protein coding) 9 9 9 q32 86529045 86530034 + 114914042 114921947 + 115875176 115882126 + 12477932;16751776 286333 ABBA01042691;AK125961;AK127516;AK292424;AL449105;AL832752;AMYH01021667;AMYH01021668;AMYH01021669;AW590029;BC130412;BC130414;BX647840;CR627046;DQ571292;DQ571830;DQ572584;DQ572604;DQ573210;DQ574281;DQ574282;DQ574883;DQ575341;DQ575875;DQ575876;DQ576708;DQ576973;DQ577436;DQ577497;DQ578024;DQ578070;DQ578826;DQ579058;DQ579756;DQ580394;DQ581398;DQ583663;DQ583747;DQ583957;DQ585700;DQ586383;DQ586412;DQ587744;DQ588855;DQ588856;DQ588981;DQ589036;DQ589109;DQ589341;DQ589592;DQ591097;DQ591261;DQ591583;DQ593108;DQ594567;DQ594783;DQ595134;DQ595918;DQ598654;DQ600043;DQ600134;DQ600939;NR_024366 BAF85113 Hs.449459;Hs.99052 1689027 RH98640 C9orf109;DKFZp686A0127;FLJ76363;LINC00256A;NCRNA00256A APPROVED miscrna ENSG00000231528 27855 VALIDATED 1603991 FAM222B family with sequence similarity 222, member B 17 17 17 q11.2 23942277 24028763 - 24107123 24193967 - 27082996 27169841 - 6480464 16344560;15489334;14702039;12477932;16712791 55731 B3KQ88;J3KSK8;J3QKY8;J3QLP2;J3QR32;J3QRM5;J3QRR9;Q8WU58 ABBA01015039;ABBA01015040;ABBA01015041;ABBA01015042;ABBA01015043;ABBA01015044;ABBA01015045;AC010761;AC024267;AK000147;AK001562;AK025980;AK057665;AK095569;AK299477;AMYH01008284;AMYH01008285;BC021228;BX647766;CB156081;CH471159;DA185693;DA787679;FJ695200;NM_001077498;NM_018182 AAH21228;ACE86462;ACE87143;BAA90974;BAA91757;BAB15306;BAG51950;BAG53087;BAG61441;EAW51143;EAW51144;EAW51145;NP_001070966;NP_060652;Q8WU58 Hs.564533 1683433;1683777;1686688;1706296;1778684 D17S2153;RH39311;RH47382;RH93591;SHGC-80705 C17orf63;FLJ10700 hypothetical protein LOC55731;protein FAM222B;uncharacterized protein C17orf63 APPROVED protein-coding ENSG00000173065 25563 07693 VALIDATED 1626521 FAM226B family with sequence similarity 226, member B (non-protein coding) X X q13.2 71905729 71915646 + 71996897 71998919 + 16382448;15772651;15489334;12477932;11181995 653687 AC240504;AMYH01022563;BC025725;BX295541;CH471213;DB480960;NR_026594 EAW71828 Hs.592230 1667361;1789006 G65636;WI-14887 CXorf50B;LINC00246B;NCRNA00246B APPROVED miscrna 31964 PREDICTED 1343965 FAM22C family with sequence similarity 22, member C 10 q22.3 81451610 81462705 + 727807 AL603703;XM_001125950 CAI16680;Q5SWS2;XP_001125950 protein-coding 23446 7207323 FAM230A family with sequence similarity 230, member A 22 q11.21 20695278 20708331 + 653203 J3KSB9;J3QLJ4 AC007731;AC011718;BX113015;HY015513;JX456222 AFU55684 Hs.535667;Hs.730457 DGCR15 protein-coding 45045 MODEL 7204883 FAM229A family with sequence similarity 229, member A 1 p35.1 32826871 32827844 - 12477932;8889548 100128071 H3BMD6;H3BQW9 ABBA01023428;AL109945;AMYH01000467;BC073915;BC111382;BM977763;BU615827;CH471059;NM_001167676 EAX07533;H3BQW9;NP_001161148 Hs.660539 1697428;1743375 GDB:315593;RH102214 protein FAM229A;uncharacterized protein LOC100128071 protein-coding ENSG00000225828 44652 VALIDATED 2303337 FAM228A family with sequence similarity 228, member A 2 2 2 p23.3 24238260 24254860 + 24251476 24268071 + 24397972 24414567 + 15815621;15489334;12477932;23509962 653140 F2Z3J0;H7C3M9;H7C4B8;Q86W67 ABBA01045105;AC008073;AMYH01010164;BC050462;CH471053;NM_001040710 AAH50462;AAY14667;EAX00756;NP_001035800;Q86W67 Hs.741736 C2orf84;FLJ30851 OTTHUMP00000200743;OTTHUMP00000200746;UPF0638 protein C2orf84;hypothetical protein LOC653140;protein FAM228A APPROVED protein-coding ENSG00000186453 34418 PROVISIONAL 1606400 FAM23B family with sequence similarity 23, member B 10 10 p12.33 18081224 18129861 + 18041262 18085490 + 15164054;11181995;20139978 100289299 AK300456;AL928729;CH471072;XM_002342974 BAG62176;CAH70732;EAW86206;Q5VSJ3;XP_002343015 Hs.730277 FLJ59050;bA162I21.2 OTTHUMP00000019244;family with sequence similarity 23, member B;hypothetical protein LOC100289299 protein-coding 23474 MODEL 1603808 FAM225B family with sequence similarity 225, member B (non-protein coding) 9 9 9 q32 86527232 86529024 - 114906824 114913864 - 115867003 115873957 - 15489334;14702039;12477932;16751776 100128385 ABBA01042691;AK125961;AK127516;AK292424;AL045730;AL449105;AL832752;AMYH01021664;AMYH01021665;AMYH01021666;AMYH01021667;BC130412;BC130414;BX647840;CR627046;DQ570421;DQ571780;DQ571857;DQ572605;DQ572606;DQ572607;DQ573397;DQ573908;DQ574887;DQ574900;DQ575404;DQ576305;DQ576533;DQ577277;DQ578062;DQ578188;DQ579733;DQ581277;DQ581278;DQ581891;DQ583471;DQ583481;DQ583739;DQ584057;DQ585563;DQ585781;DQ586509;DQ588160;DQ589037;DQ589038;DQ590002;DQ590868;DQ591165;DQ591410;DQ591759;DQ592077;DQ592348;DQ595729;DQ596022;DQ597462;DQ600133;DQ600761;NR_024376 BAF85113 Hs.449459;Hs.99052 1689027 RH98640 C9orf110;LINC00256B;NCRNA00256B APPROVED miscrna ENSG00000225684 21865 VALIDATED 1342610 FAM24A family with sequence similarity 24, member A 10 10 10 q26.13 118376663 118379073 + 124660207 124662617 + 124670217 124672627 + 118670 A6NFZ4 ABBA01062839;AC073585;AMYH01003143;CH471066;HC044851;NM_001029888 A6NFZ4;CBH30755;EAW49299;NP_001025059 Hs.369829 5124237 RH94169 OTTHUMP00000020671;family with sequence similarity 24, member A;protein FAM24A protein-coding ENSG00000203795 23470 18720 INFERRED 1605268 FAM227B family with sequence similarity 227, member B 15 15 15 q21.2 26514181 26806352 - 47407882 47700410 - 49620590 49913118 - 6480464 15489334;14702039;12477932;11329013;20379614;21565293;23408906 196951 H0YK12;H0YLL2;H0YLX5;H0YMU4;H0YMX9;H0YNN2;Q96M60 ABBA01039125;ABBA01039126;ABBA01039127;AC018927;AC022306;AC025919;AK023699;AK057362;AMYH01006631;AMYH01006632;AMYH01006633;BC048125;BC048139;BG182490;BI463646;CH471082;NM_152647 AAH48125;BAB71451;EAW77369;EAW77370;EAW77371;EAW77372;EAW77373;EAW77374;NP_689860;Q96M60 Hs.712959 1657113;1665775;1673250;1673706;1727847;1753517;1763179;1763679;2121949;2130861;5093182 A009J02;D15S1244;G31072;G32568;G63339;RH46325;RH66841;SHGC-107445;SHGC-146909;SHGC-147361;SHGC-30040 C15orf33;FLJ32800;MGC57432 hypothetical protein LOC196951;protein FAM227B;uncharacterized protein C15orf33 APPROVED protein-coding ENSG00000166262 26543 08139 VALIDATED 2305665 FAM228B family with sequence similarity 228, member B 2 2 2 p23.3 24186680 24232794 + 24153492 24246011 + 24346350 24392507 + 6480464 15146197;14702039;12477932;8889548;17207965 375190 B5MD07;C9JGZ2;F8WE94;H7C217;H7C230;P0C875 ABBA01045103;ABBA01045104;ABBA01045105;AC008073;AMYH01010164;BC029459;BM969566;CH471053;CN395744;NM_001145710 ADQ33111;EAX00757;NP_001139182;P0C875 Hs.710370 1676508;1719311;1753319;2083760;2147105 REN113127;RH123378;RH16180;SGC34447;SHGC-85370 FLJ30851 OTTHUMP00000200733;OTTHUMP00000200734;UPF0638 protein B;hypothetical protein LOC375190;protein FAM228B;uncharacterized protein LOC375190 APPROVED protein-coding ENSG00000219626 24736 13403 PROVISIONAL 2298836 FAM229B family with sequence similarity 229, member B 6 6 6 q21 113149981 113165299 + 112515367 112530686 + 112408674 112423993 + 6480464 12477932 619208 Q4G0N7 ABBA01026079;AL049461;AMYH01016597;BC044912;BF110308;CH471051;CS072351;NM_001033564;Z99289 AAH44912;CAI93489;EAW48271;NP_001028736;Q4G0N7 Hs.591340 1698762;1710948;1769864;5037552 D6S1259;D8S2279;RH102944;SHGC-84449 C6orf225;DKFZp586F0922 OTTHUMP00000204268;UPF0731 protein C6orf225;hypothetical protein LOC619208;protein FAM229B APPROVED protein-coding ENSG00000203778 33858 VALIDATED 1603250 FAM230B family with sequence similarity 230, member B 22 22 q11.21 19850415 19869200 + 21522231 21539295 + 12477932 284861 Q6ZQP7 AK128837;AP000550;BC039313;XR_109744 Q6ZQP7 Hs.645542 APPROVED miscrna 32943 17343 MODEL 1348711 FAM25D family with sequence similarity 25, member D 10 10 10 q11.23 45633691 45635583 - 50884513 50886406 - 50884513 50886406 - 15164054 728955 A8MYX2 AL672187;XM_001128899 A8MYX2;XP_001128899 bA592B15.5 family with sequence similarity 25, member D protein-coding ENSG00000214986 23588 1349843 FAM25G family with sequence similarity 25, member G 10 10 q11.22 47867658 47872151 + 48247662 48252126 + 15164054 100133093 B3EWG3;B3EWG4;B3EWG5;B3EWG6 AL591684;AMYH01002428;NM_001137549 B3EWG6;NP_001131021 Hs.723078 FAM25A;FAM25B;FAM25C;KIAA0187;bA301J7.4 OTTHUMP00000019530;hypothetical protein LOC100133093;protein FAM25;protein FAM25G protein-coding ENSG00000197910 23590 VALIDATED 1346045 FAM25E family with sequence similarity 25, member E 10 10 10 q11.22 45633691 45635583 - 45630882 45632772 - 46310876 46312766 - 643479 A8MYX2 AC012044;XM_001718256;XM_926802 XP_001718308;XP_931895 AC012044.5 family with sequence similarity 25, member E protein-coding 23587 1352546 FAM25HP family with sequence similarity 25, member H pseudogene 414207 23591 1352359 FAM24B family with sequence similarity 24, member B 10 10 10 q26.13 118315056 118345603 - 124598600 124629147 - 124608610 124639157 - 737633;6480464 12477932 15489334;12975309;20379614 196792 Q8N5W8 ABBA01062839;ABBA01062840;AC073585;AL832386;AL832795;AMYH01003143;AV762334;BC031343;BG490871;BU602099;BU958134;CB410280;CH471066;NM_001204364;NM_152644;NR_037911 AAH31343;CAI46166;EAW49301;NP_001191293;NP_689857;Q8N5W8 Hs.114648 1690732;2163911 RH98409;U75683 DKFZp667I0323;MGC45962 OTTHUMP00000020672;OTTHUMP00000020673;hypothetical protein LOC196792;protein FAM24B protein-coding ENSG00000213185 23475 13299 VALIDATED 4109838 FAM230C family with sequence similarity 230, member C 12477932;14702039;16344560 26080 ABBA01048747;ABBA01048748;ABBA01048749;ABBA01048750;ABBA01048751;AK097777;AL356585;BC040613;DB056745;NR_027278 Hs.448583 1685682;1744293 GDB:451583;RH80696 LINC00281;NCRNA00281 APPROVED miscrna 24482 PREDICTED 1352936 FAM25C family with sequence similarity 25, member C 10 10 q11.22 48873359 48877841 - 49203372 49207825 - 6480464 15164054;12477932 644054 B3EWG3;B3EWG4;B3EWG5;B3EWG6 AC245041;AL603966;AMYH01002429;BC127791;BC146955;BC146972;BC146989;BC146990;BC146991;BC147022;BC147026;BC171871;NM_001137548 AAI46956;AAI46973;AAI46990;AAI46991;AAI46992;AAI47023;AAI47027;AAI71871;B3EWG5;NP_001131020 Hs.645212;Hs.723078 5015163;5015861;7185938 D10S16;SHGC-142003 FAM25A;FAM25B;FAM25G;KIAA0187;bA164N7.4 OTTHUMP00000019544;hypothetical protein LOC644054;protein FAM25;protein FAM25C protein-coding ENSG00000188279 23586 VALIDATED 1343588 FAM25B family with sequence similarity 25, member B 10 10 q11.22 46597208 46601704 - 47177221 47181688 - 15164054;12477932 100132929 B3EWG3;B3EWG4;B3EWG5;B3EWG6 ABBA01190684;AC244230;AL391137;AMYH01002502;BC146968;BF062320;NM_001137556;NR_104039 AAI46969;B3EWG4;CAI12205;NP_001131028 Hs.645212 FAM25A;FAM25C;FAM25G;KIAA0187;bA144G6.8 OTTHUMP00000019524;hypothetical protein LOC100132929;protein FAM25;protein FAM25B pseudo ENSG00000189090 23584 VALIDATED 1347345 FAM25A family with sequence similarity 25, member A 10 10 10 q23.2 82783049 82787492 + 88770026 88774469 + 88780046 88784487 + 6480464 15164054;12477932;11181995 643161 B3EWG3;B3EWG4;B3EWG5;B3EWG6 ABBA01033689;AL136982;AMYH01002903;BC171878;BC171915;BQ013919;CH471142;NM_001146157 AAI71878;AAI71915;B3EWG3;EAW80305;EAW80306;NP_001139629 Hs.729945 FAM25B;FAM25C;FAM25G;bA96C23.5 OTTHUMP00000020016;hypothetical protein LOC643161;protein FAM25;protein FAM25A protein-coding ENSG00000188100 23436 VALIDATED 1625807 FAM27B family with sequence similarity 27, member B 9 9 q13 67381987 67384737 - 67792929 67794189 - 15164053 100133121 Q5VT28 ABBA01032819;AL627230;AMYH01021190;NR_027422 Q5VT28 Hs.744835 FAM27A2;bA12A20.3 miscrna ENSG00000170215 23667 VALIDATED 1625832 FAM27D1 family with sequence similarity 27, member D1 p11.2 724094 C9JEY5;Q5T7N8 AL162731;AL773537;NM_001098809 CAH71857;CAI13103;NP_001092279;Q5T7N8;Q5VSL6 protein-coding 32015 1605771 FAM26F family with sequence similarity 26, member F 6 6 6 q22.1 117525623 117528003 + 116889249 116891627 + 116782556 116784934 + 6480464 14574404;12477932;8889548 441168 Q5R3K2;Q5R3K3;Q5R3K4 ABBA01026046;AF086130;AMYH01016617;AV734646;BC146842;BM704529;CH471051;DN997293;NM_001010919;NM_001276460;Z84488 AAI46843;EAW48228;NP_001010919;NP_001263389;Q5R3K3 Hs.381220 1768668 RH65942 C6orf187;RP1-93H18.5;dJ93H18.5 OTTHUMP00000017061;OTTHUMP00000017062;hypothetical protein LOC441168;protein FAM26F protein-coding ENSG00000188820 33391 18644 VALIDATED 1604129 FAM27A family with sequence similarity 27, member A 9 9 q12 44990236 44991492 + 45727029 45728283 + 15164053;12477932;8889548 548321 Q5VT28 AK131029;AL953889;AMYH01020589;BC002886;NR_024060 CAI16780;Q5VT28 Hs.651534;Hs.743944 FAM27A1;MGC11241;bA7G23.5 miscrna ENSG00000182368 19729 VALIDATED 6904124 FAM27E4 family with sequence similarity 27, member E4 9 p11.2 44998147 44998488 + 100132439 M0R269 AL391987;XM_001719283 XP_001719335 FAM27E4P family with sequence similarity 27, member E4;family with sequence similarity 27, member E4, pseudogene;protein FAM27E3-like APPROVED protein-coding 44415 MODEL 1625809 FAM27C family with sequence similarity 27, member C 9 9 p11.2 44929504 44932250 + 44990236 44991492 + 15164053;12477932 100132948 Q5VT28 AL391987;AMYH01020458;BC073976;NR_027421 Q5VT28 Hs.645763 FAM27A3;bA374M1.5 miscrna ENSG00000154537 23668 VALIDATED 1321291 FAM26E family with sequence similarity 26, member E 6 6 6 q22.1 117575879 117582776 + 116939501 116946402 + 116832808 116839709 + 6480464 15489334;14702039;14574404;12477932 254228 Q8N5C1 ABBA01026045;AK023730;AK094140;AK315572;AL121953;AMYH01016617;BC032556;BM478960;BQ001005;CH471051;NM_153711 BAG37946;BAG52825;EAW48226;NP_714922;Q8N5C1 Hs.660142 2126919 SHGC-54632 C6orf188;MGC45451;dJ493F7.3 OTTHUMP00000017067;chromosome 6 open reading frame 188;hypothetical protein LOC254228;protein FAM26E protein-coding 21568 12868 VALIDATED 1314099 FAM26D family with sequence similarity 26, member D 6 6 6 q22.1 117593268 117623104 + 116956888 116986724 + 116850176 116880031 + 6480464 15489334;14702039;14574404;12975309;12477932;16344560 221301 B0QZ26;Q5JW98 ABBA01026045;AK056801;AK300309;AL121953;AMYH01016617;AY358252;BC057769;CH471051;DA855717;DC381602;HC044651;NM_001256887;NM_001256888;NM_001256889;NM_153036 AAH57769;AAQ88619;BAB71288;BAG62062;CBH30655;EAW48223;EAW48224;NP_001243816;NP_001243817;NP_001243818;NP_694581;Q5JW98 Hs.350750 C6orf78;FLJ32239 OTTHUMP00000197130;OTTHUMP00000198749;OTTHUMP00000198750;chromosome 6 open reading frame 78;hypothetical protein LOC221301;protein FAM26D protein-coding ENSG00000164451 21094 12899 VALIDATED 1343080 FAM32B family with sequence similarity 32, member B (pseudogene) 22 22 q11.1 1315641 1317398 + 17694381 17696138 + 399656 ABBA01001455;AC005399;AMYH01012431;NG_008703 pseudo 30945 INFERRED 3231976 FAM32C family with sequence similarity 32, member C (pseudogene) 10 10 10 q22.2 69789260 69790861 - 76174146 76178502 - 76502959 76504560 - 645646 ABBA01020276;AL357037;AMYH01002835;NG_016627 1726091;1965190 G62298;REN53469 pseudo 34239 INFERRED 2301481 FAM32D family with sequence similarity 32, member D (pseudogene) 18 18 q22.1 62223994 62225511 - 65374042 65375559 - 100190955 ABBA01056267;AC022655;AMYH01009069;NG_008713 pseudo 34240 INFERRED 7246275 FAM27E1 family with sequence similarity 27, member E1 9 p11.2 46386660 46387002 - 12477932;15164053;15489334 100287333 Q5T7N7 AL162731;AMYH01020675;BC119676;BY993966;NR_103712;XR_110794;XR_171777 Q5T7N7 Hs.31240;Hs.567050 miscrna ENSG00000237198 32014 VALIDATED 7246552 FAM27E2 family with sequence similarity 27, member E2 12477932;15164053;15489334 100289124 Q5SNX5 ABBA01002346;AI768471;AL953889;AMYH01020589;BC148261;BE464320;NR_103714;XR_110605;XR_159532;XR_171776 CAI16776;Q5SNX5 Hs.31240;Hs.651656 miscrna 32013 VALIDATED 2301480 FAM32E family with sequence similarity 32, member E (pseudogene) 12 12 q24.32 126548218 126549576 - 126942083 126943441 - 100190956 ABBA01060319;AC005868;AMYH01004861;NG_008714 pseudo 34241 INFERRED 1350093 FAM35BP family with sequence similarity 35, member B, pseudogene 10 10 q11.22 46897648 46939149 + 46897641 46939145 + 7566098 414241 AA305743;ABBA01018418;AL356056;AW955523;NR_027632 Hs.594331 FAM35B;FLJ59018;bA38L15.1 APPROVED pseudo ENSG00000165874 31425 PROVISIONAL 1342608 FAM35CP family with sequence similarity 35, member C, pseudogene 14 14 14 q31.3 68464561 68467438 + 87480921 87491300 + 88418870 88421747 + 100128781 ABBA01030534;AL136501;AMYH01005931;NG_008816;NG_011853 1745297;1745299;2146342 GDB:599311;GDB:599315;WI-9280 FAM35A2;FAM35AP APPROVED pseudo 31427 INFERRED 2292064 FAM35DP family with sequence similarity 35, member D, pseudogene 10 10 q11.22 46799732 46841242 + 47379720 47421238 + 439965 ABBA01005703;ABBA01005704;ABBA01005705;ABBA01018460;AK294120;BX649215;NR_027634 BAG57453 Hs.283521 FAM35B2;FLJ59018 APPROVED pseudo 34038 PROVISIONAL 7206872 FAM35EP family with sequence similarity 35, member E, pseudogene 10 q11.22 49087398 49094514 + 338598 AL731733;AMYH01002427;NG_022177 pseudo 45005 INFERRED 1352346 FAM38B2 family with sequence similarity 38, member B2 p11.22 14702039 284221 AK095053;AK127627;XM_001130754 BAC87063;Q6ZS91;Q8N787;XP_001130754 Hs.651849 C18orf30;HsT771 protein-coding 27589 10718 1347792 FAM30A family with sequence similarity 30, member A q32.33 12477932;11042152 29064 Q05C13 AF150199;AF161538;BC016766;BC030286 AAF29025;AAH16766;AAH30286;Q05C13;Q05DB7;Q9NZY2 Hs.649259 C14orf110;HSPC053 chromosome 14 open reading frame 110 protein-coding 20211 2299011 FAM27E3 family with sequence similarity 27, member E3 9 9 q13 67374675 67376308 - 67784857 67786908 - 6480464 15489334;12477932;16189514;18482256 100131997 Q08E93 ABBA01032819;AL627230;AMYH01021190;BC032035;BC044751;BC119675;BC127258;NR_103833;XM_001720463;XM_003846713;XM_003960450 AAH32035;AAI19676;Q08E93;XP_001720515;XP_003846761;XP_003960499 Hs.31240 MGC149559;MGC42630 family with sequence similarity 27, member E3 miscrna ENSG00000232833 28655 VALIDATED 2299187 FAM3C2 family with sequence similarity 3, member C2 (pseudogene) X X p22.11 23003524 23005350 + 23093703 23095529 + 286460 AC117517;AMYH01022145;NG_002950 1645762;1645764;1677380;2143470;2151011 A002V29;D7S2158E;RH64602;STS-H88599;WI-16398 MGC45134 pseudo 34501 INFERRED 1602282 FAM27L family with sequence similarity 27-like 17 17 17 p11.2 19942307 19943434 + 21749497 21750630 + 21825370 21826499 + 6480464 15489334;12477932;21540461 284123 Q8N5T8 ABBA01006761;AC138761;AMYH01008270;BC031617;CH471221;NR_028336 AAH31617;EAW49114;Q8N5T8 Hs.348578 MGC35151 miscrna ENSG00000178130 32410 17335 VALIDATED 1353463 FAM41AY1 family with sequence similarity 41, member A, Y-linked 1 Y Y q11.221 4961477 4977253 + 19612838 19628622 + 737633;6480464 12477932 9847074 340618 AC015978;BC042981;NR_028083 Hs.742348 1730037;1752155;2188907 DYF80S1;G65967;SHGC-106098 FAM41AY miscrna 23955 VALIDATED 2311620 FAM41AY2 family with sequence similarity 41, member A, Y-linked 2 Y q11.2 20551156 20566932 - 9847074 100302526 ABBA01007797;ABBA01007798;AC007241;AC069130;BC042981;NG_004636;NR_028084 Hs.434364;Hs.742348 1730037;1752155;2188907 DYF80S1;G65967;SHGC-106098 miscrna 37135 VALIDATED 1353260 FAM41BY family with sequence similarity 41, member B, Y-linked 414324 31688 1316761 FAM32A family with sequence similarity 32, member A 19 19 19 pter-p13.3 16198233 16204860 + 16157235 16163857 + 16296235 16302857 + 6480464 11256614;16381901;15489336;15489334;12477932;11230166;11076863;10810093;16169070;19913121;20628086;21832049;21339736 26017 K7EIY1;K7ELZ8;K7ENN5;Q9Y421 ABBA01051132;ABBA01051133;AC020911;AF151902;AK312058;AL050157;AMYH01009558;AMYH01009559;BC000639;BC004447;BC017286;CH471106;NM_014077 AAD34139;AAH00639;AAH04447;AAH17286;BAG34994;CAB43298;CAL38426;CAL38545;EAW84536;EAW84537;EAW84538;NP_054796;Q9Y421 Hs.631614 1652643;1679836;2165093 A001W39;D19S655E;RH47532 OTAG-12;OTAG12 hypothetical protein LOC26017;ovarian tumor associated gene-12;ovarian tumor-associated gene 12;protein FAM32A protein-coding ENSG00000105058 24563 13305 614554 PREDICTED 1342738 FAM41C family with sequence similarity 41, member C 1 1 1 p36.33 1777424 1788563 + 803451 812182 - 803451 812182 - 737633 12477932 16710414 284593 ABBA01016000;ABBA01016001;AL669831;AMYH01000100;AMYH01000101;BC047940;NR_027055 Hs.449006 5126156 SHGC-74087 miscrna ENSG00000230368 27635 PREDICTED 1349782 FAM3A family with sequence similarity 3, member A X X X q28 153894374 153905613 - 153387700 153397567 - 153733323 153744566 - 6480464 15772651;15489334;12477932;12160727;8733135;8281148;8248200;18212107;17207965;21988832;23446634;21832049 60343 A6QRH7;A6QRH8;F8WB47;F8WCK6;F8WD39;F8WEM7;F8WEW8;P98173;Q5HY75;Q9BU27 ABBA01045269;ABBA01045270;ABBA01045271;AC244090;AK024601;AK057945;AK124890;AK294116;AK314682;AMYH01023318;BC002934;BC008912;BX664739;CH471172;CX867071;L44140;NG_016401;NM_001171132;NM_001171133;NM_001171134;NM_021806;NR_033237;X55448;X74610;X87193 AAA92652;AAH02934;AAH08912;ACE86913;ACE87600;ADQ31641;BAG37234;BAG57449;CAA39090;CAA60645;EAW72688;EAW72689;EAW72690;EAW72691;EAW72692;EAW72693;EAW72694;EAW72695;EAW72696;NP_001164603;NP_001164604;NP_001164605;NP_068578;P98173 Hs.289108 1800408;1801180;1801916;1807498;1810022;1812092;1827790;1829370;1835192;2037650;2037652;2037654;2037656;2037658;2037660;2037662;2037664;2037666;2037668;2037670;2037672;2037674;2037676;2037678;2037680;2037682;2037684;2037686;2037688;2037690;2037692;2037694;2037696;2037698;2037700;2037702;2037704;2037706;2037708;2037710;2037712;2037714;2037716;2037718;2037720;2037722;2037724;2037726;2037728;2037730;2037732;2037734;2037736;2037738;2037740;2037742;2037744;2037746;2037748;2037750;2037752;2037754;2037756;2102608;2102610;2108083;2134304;5019070;5022578;5037552;5112017 D1S1423;D8S2279;ECD01064;ECD01462;ECD01839;ECD04721;ECD06003;ECD07051;ECD15017;ECD15816;ECD18751;FAM3A__7632;G44334;G44365;REN89838;REN89839;REN89840;REN89841;REN89842;REN89843;REN89844;REN89845;REN89846;REN89847;REN89848;REN89849;REN89850;REN89851;REN89852;REN89853;REN89854;REN89855;REN89856;REN89857;REN89858;REN89859;REN89860;REN89861;REN89862;REN89863;REN89864;REN89865;REN89866;REN89867;REN89868;REN89869;REN89870;REN89871;REN89872;REN89873;REN89874;REN89875;REN89876;REN89877;REN89878;REN89879;REN89880;REN89881;REN89882;REN89883;REN89884;REN89885;REN89886;REN89887;REN89888;REN89889;REN89890;REN89891;RH78316;stSG604102;stSG604103 2-19;2.19;DLD;DXS560S;XAP-7 OTTHUMP00000015418;OTTHUMP00000015419;OTTHUMP00000015420;OTTHUMP00000015422;OTTHUMP00000196191;OTTHUMP00000196464;cytokine-like protein 2-19;family 3, member A protein;protein FAM3A protein-coding ENSG00000071889 13749 06505 300492 VALIDATED 1354134 FAM35A family with sequence similarity 35, member A 10 10 q23.2 88844933 88941202 + 88854953 88951222 + 6480464 15489334;15164054;14702039;12477932;9110174;8619474;21906983 54537 H0Y2W3;Q86V20 AF131775;AK022978;AK025471;AK025606;AL136982;AL645992;AMYH01002903;AMYH01002904;BC051863;NM_019054 AAD20041;AAH51863;BAB14342;NP_061927;Q86V20 Hs.500419 1743163;5019148;5124639 Bda18h06;GDB:277890;RH102687 FAM35A1;MGC5560;bA163M19.1 OTTHUMP00000020021;OTTHUMP00000020022;hypothetical protein LOC54537;protein FAM35A protein-coding ENSG00000122376 28773 09944 VALIDATED 1323237 FAM3B family with sequence similarity 3, member B 21 21 21 q22.3 27886894 27927901 + 41610531 41651524 + 42688661 42729654 + 6480464 12160727;16249448;16114871;15489334;12975309;12477932;11707072;10830953;20237496;20379614;21832049;23059759;23300138 54097 A8MTF8;P58499 ABBA01044663;AF375989;AF494379;AJ409094;AK125528;AL773578;AMYH01012263;AY040086;AY358459;BC036314;BC057829;BF514643;BI712971;CH471079;CS488895;NM_058186;NM_206964 AAH57829;AAK74134;AAL34495;AAM94280;AAQ88824;ADR82668;CAC83974;CAM55969;EAX09608;EAX09609;EAX09610;NP_478066;NP_996847;P58499 Hs.473877;Hs.670704 1674433;1730910;1754531;2143172 D21S1224;D21S64;SHGC-132814;SHGC-52452 2-21;C21orf11;C21orf76;ORF9;PANDER;PRED44 D21M16SJHU19e;OTTHUMP00000109238;OTTHUMP00000109239;OTTHUMP00000109240;OTTHUMP00000109241;cytokine-like protein 2-21;family with sequence similarity 3, member B;pancreatic derived factor;pancreatic-derived factor;protein FAM3B protein-coding 1253 10552 608617 VALIDATED 1343774 FAM43A family with sequence similarity 43, member A 3 3 3 q29 192820433 192823578 + 195887911 195891055 + 194406622 194409766 + 737633;6480464 12477932 15498874;15489334;14702039;7829101 131583 Q8N2R8 ABBA01001621;AC046143;AF147314;AF289585;AK074503;AMYH01013782;BC039689;BC064989;BG107959;BG110772;BI494721;BM561125;BQ009970;CH471052;NM_153690 AAH39689;AAH64989;AAL55769;BAC11027;EAW78033;NP_710157;Q8N2R8 Hs.435080 2118719;2140705 SHGC-34977;STS-W92258 FLJ90022 OTTHUMP00000209072;hypothetical protein LOC131583;protein FAM43A protein-coding ENSG00000185112 26888 13308 VALIDATED 1346862 FAM45B family with sequence similarity 45, member B (pseudogene) X X X q26.1 130015381 130017889 + 129456620 129458243 + 129628915 129631422 + 737633;6480464 12477932 15489334;10931946;17207965;21139048 55855 Q6NSW5 ABBA01047936;AF220185;AK297971;AMYH01022973;BC069821;CH471107;NG_021369;NR_027141;Z82195 AAF67650;ADQ31946;BAG60281;EAX11798 Hs.567120 2110463;2173648 HT011__6610.2;NIB1107 HT011 APPROVED pseudo 30886 06592 VALIDATED 1345832 FAM3C family with sequence similarity 3, member C This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010] 7 7 7 q31 115798102 115845614 - 120776141 120823658 - 120988905 121036422 - 1580863;6480464 12160727;19396169;19109932;16959614;16406369;16344560;16215274;15985535;15489334;15252450;12853948;12477932;9847074;20379614;22939629;22159821;22792070;21906983;18029348 10447 C9JMN4;C9JP35;Q92520 AACC02000001;ABBA01057760;AC006364;AC079401;AK290682;AK292731;AMYH01017897;BC024200;BC046932;BC068526;CA446040;CH236947;CH471070;CS079683;CS359956;D87120;DA144459;DA489351;DA501135;DQ786255;NM_001040020;NM_014888 AAH24200;AAH46932;AAH68526;BAA13251;BAF83371;BAF85420;CAI94481;CAL31920;EAW83558;NP_001035109;NP_055703;Q92520 Hs.434053 1645762;1645764;1652723;1677380;1695512;1712673;1751207;1771086;1772965;1775388;1846989;1857705;2141694;2143470;2151011;2164650 A002V29;A004T29;A007A03;D7S1648;D7S2158E;D7S2821;D7S705;GDB:6028505;RH122000;RH48532;RH64602;SHGC-105051;SHGC-68665;STS-H88599;WI-14616;WI-16398 GS3786;ILEI OTTHUMP00000211219;OTTHUMP00000211220;OTTHUMP00000211222;family with sequence similarity 3, member C;interleukin-like EMT inducer;predicted osteoblast protein;protein FAM3C APPROVED protein-coding ENSG00000196937 18664 12270 608618 REVIEWED 1346194 FAM43B family with sequence similarity 43, member B 1 1 1 p36.12 19203258 19205839 + 20751519 20754087 + 20878932 20881513 + 6480464 16710414;14702039;12477932;21461611;21139048 163933 Q6ZT52 ABBA01059782;AK126900;AL391357;AMYH01000322;BC015675;BC142610;BC142686;NM_207334 AAI42611;AAI42687;BAC86742;NP_997217;Q6ZT52 Hs.429179 FLJ44952 OTTHUMP00000063209;family with sequence similarity 43, member B;protein FAM43B protein-coding ENSG00000183114 31791 16881 VALIDATED 1313583 FAM3D family with sequence similarity 3, member D 3 3 3 p14.2 58633095 58666026 - 58594710 58627601 - 58619670 58652561 - 1580863;6480464 12160727;16740002;15489334;12975309;12477932;8889548;20677014;17207965;21822266;22226334 131177 C9IZW7;C9J5Z5;C9JB68;F8WCI4;Q96BQ1 ABBA01024377;ABBA01024378;AC119424;AF494381;AK127546;AMYH01013231;AW662283;AY358677;BC015359;CA314533;CH471055;NM_138805 AAH15359;AAM94282;AAQ89040;ADQ31642;BAG54521;EAW65382;NP_620160;Q96BQ1 Hs.61265 1686746 RH80189 EF7;OIT1 OTTHUMP00000214165;OTTHUMP00000214166;cytokine-like protein EF-7;family with sequence similarity 3, member D;protein FAM3D protein-coding ENSG00000198643 18665 12271 608619 VALIDATED 1344774 FAM46B family with sequence similarity 46, member B 1 1 1 p36.11 25728601 25736421 - 27204098 27211914 - 27331511 27339333 - 737633;6480464 12477932 16713569;16710414;16189514;15489334;15146197;14702039 115572 Q96A09 ABBA01034944;AK122816;AL356390;AMYH01000417;BC012790;BC014160;BC036320;CH471059;CN311438;NM_052943 AAH12790;AAH14160;ABM84423;ABW03574;EAX07777;NP_443175;Q96A09 Hs.632378 1697058 RH102008 MGC16491;MGC20845;RP11-344H11.8 OTTHUMP00000004474;hypothetical protein LOC115572;protein FAM46B protein-coding ENSG00000158246 28273 16882 VALIDATED 1348599 FAM46D family with sequence similarity 46, member D Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009] X X X q21.1 79831129 79940938 + 79562621 79587466 + 79591003 79700810 + 737633 12477932 16189514;15772651;15489334;19377476;19540335 169966 B2R9Q6;Q8NEK8 ABBA01049102;ABBA01049103;ABBA01049104;ABBA01049105;ABBA01049106;ABBA01049107;ABBA01049108;AK128147;AK313875;AL591431;AMYH01022640;AMYH01022641;BC028710;BC030784;BC034979;BX506299;BX537938;CH471104;NG_016384;NM_001170574;NM_152630 AAH28710;AAH30784;AAH34979;ABM81772;ABM84926;BAG36603;BAG54638;CAD97909;EAW98586;NP_001164045;NP_689843;Q8NEK8 Hs.367959 1787406;2158303 AF020147;SHGC-70166 CT1.26;CT112;MGC26999 OTTHUMP00000023605;cancer/testis antigen 112;hypothetical protein LOC169966;protein FAM46D APPROVED protein-coding ENSG00000174016 28399 06643 VALIDATED 1352086 FAM46C family with sequence similarity 46, member C 1 1 1 p12 116376272 116398670 + 117950127 117972534 + 118148604 118171011 + 737633;6480464 12477932 16710414;16189514;15489334;14702039;21994415;21906983;19322201;21478870 54855 Q5VWP2 ABBA01068503;AK000209;AK091327;AL046016;AL365331;AMYH01000974;BC036516;BC131726;CD300120;CH471122;NM_017709 AAH36516;AAI31727;BAA91010;EAW56679;NP_060179;Q5VWP2 Hs.356216 1335443;1654682;1692498;1725443;1775810;2110397;2176336;7185011 AL033901;D1S453;FAM46C_9835;RH119117;SGC34840;SHGC-75377;SHGC-75381 FLJ20202 OTTHUMP00000015538;hypothetical protein LOC54855;protein FAM46C protein-coding ENSG00000183508 24712 13312 613952 VALIDATED 1605768 FAM47C family with sequence similarity 47, member C This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011] X X X p21.1 41150900 41154207 + 36936391 36939660 + 37026432 37029739 + 16344560 442444 Q5HY64 ABBA01073632;AK125992;AMYH01022209;BX842568;DB082026;HC006948;HC044829;NG_021373;NM_001013736 BAC86381;CBH19279;CBH30744;NP_001013758;Q5HY64 Hs.535216 OTTHUMP00000025696;putative protein FAM47C APPROVED protein-coding ENSG00000198173 25301 18474 VALIDATED 2950048 FAM47DP family with sequence similarity 47, member D, pseudogene X X X p21.1 41537845 41542196 - 37285245 37289396 - 37400182 37404512 - 139249 A6NHR8 ABBA01047117;AC233283;AL627244;AMYH01022210;NG_008058 A6NHR8 APPROVED pseudo 34342 INFERRED 1347430 FAM47A family with sequence similarity 47, member A X X X p21.1 38275096 38277674 - 34057794 34060349 - 34147869 34150447 - 737633 12477932 17924679;18029348;15772651;15489334 158724 Q5JRC9 ABBA01073354;AI141715;AK292354;AL591625;AMYH01022202;BC026171;CH471074;DB445010;NG_021359;NM_203408 AAH26171;BAF85043;EAW99068;NP_981953;Q5JRC9 Hs.143268 MGC27003 OTTHUMP00000023129;hypothetical protein LOC158724;protein FAM47A protein-coding ENSG00000185448 29962 10947 VALIDATED 1344685 FAM45A family with sequence similarity 45, member A 10 10 10 q25 114594076 114626795 + 120853601 120887213 + 120863611 120897223 + 6480464 15489334;14702039;12477932;17207965 404636 B4DDW8;B4DMU4;Q8TCE6 ABBA01062909;ABBA01062910;ABBA01062911;ABBA01062912;AF168713;AK000031;AK025354;AK027029;AK293136;AK293365;AK297633;AL355598;AMYH01003111;BC022271;BI753197;BU622639;CA414818;CH471066;NM_207009 AAF87315;AAH22271;ADQ32122;BAA90894;BAG56684;BAG56879;BAG60006;EAW49405;EAW49406;EAW49407;NP_996892;Q8TCE6 Hs.434241 2110463;2173648;5015961;5022322;5022651 D11S2560;D11S2921;D15S1477;HT011__6610.2;NIB1107 OTTHUMP00000020588;hypothetical protein LOC404636;protein FAM45A protein-coding 31793 13310 VALIDATED 1344119 FAM47B family with sequence similarity 47, member B X X X p21.1 39088163 39090284 + 34870852 34872955 + 34960913 34963034 + 737633 12477932 15772651;15489334;14702039;21832049 170062 Q8NA70 ABBA01073431;AK093101;AL043092;AL043093;AL645585;AMYH01022202;BC035026;CH471074;NG_021372;NM_152631 AAH35026;BAC04056;EAW99072;NP_689844;Q8NA70 Hs.197801 FLJ35782 OTTHUMP00000023131;hypothetical protein LOC170062;protein FAM47B protein-coding ENSG00000189132 26659 06559 VALIDATED 7243020 FAM47E-STBD1 FAM47E-STBD1 readthrough This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011] 11181995;14702039;19915575;20967262;21738487;9847074 100631383 Q6ZV65 ABBA01063357;ABBA01063358;AC034139;AK090914;AK092277;AK296418;AK316039;AMYH01014313;CH471057;NM_001242939 BAG52246;BAG52516;BAG59080;BAH14410;EAX05784;EAX05786;EAX05787;NP_001229868 Hs.720509 1695310;1754701;2153233;2165038;2184164 D4S2479E;SHGC-133062;SHGC-63500;SHGC-63501;WI-17734 uncharacterized protein LOC100631383 protein-coding ENSG00000189157 44667 VALIDATED 2302124 FAM47E family with sequence similarity 47, member E 4 4 4 q21.1 74472978 74505062 + 77391903 77423960 + 77135193 77204936 + 6480464 8889548;16344560;21738487;8889549;14702039;19915575;20379614;11181995 100129583 D6RA91;D6RB38;D6RBT2;D6RCS4;Q6ZV65 ABBA01063357;AC034139;AK124936;AK310457;AMYH01014311;AMYH01014312;AMYH01014313;BC020802;BM713546;CH471057;CR627383;DB081518;N55430;NM_001136570;NM_001242936 BAC85998;EAX05785;NP_001130042;NP_001229865;Q6ZV65 Hs.720509 1676414;1726703;1750235;5017064 G62738;REN32890;RH99167;SHGC-112489 FLJ34958 OTTHUMP00000219090;OTTHUMP00000219093;OTTHUMP00000219094;hypothetical protein LOC100129583;protein FAM47E protein-coding ENSG00000189157 34343 VALIDATED 1604353 FAM46A family with sequence similarity 46, member A 6 6 6 q14 82878343 82885324 - 82512166 82519147 - 82455447 82462428 - 6480464 17803723;16924696;16713569;16545789;16344560;15489334;15231748;14702039;14574404;12477932;12054608;17207965;20734064;21906983;21987572;19322201;20881960;21963094;21988832;22976474;23275563;23291589 55603 H0Y5Y3;H0Y6D7;Q5TF85;Q96IP4 ABBA01040441;AF350451;AI131001;AJ420583;AJ420591;AJ420592;AK000044;AK056057;AK096704;AK292109;AL078599;AMYH01016464;AY740520;BC000683;BC007351;BX648876;CH471051;DA981608;NM_017633 AAH00683;AAH07351;AAM53071;AAW66943;ADQ32416;BAA90903;BAF84798;EAW48691;EAW48692;NP_060103;Q96IP4 Hs.10784 1646658;1654143;1778744;2132318;2136106;2164362;2177075 A008J23;D6S1495;RH1517;RH18551;RH45697;RH46837;WI-18234 C6orf37;FLJ20037;FLJ31495;XTP11 HBV X-transactivated gene 11 protein;HBV XAg-transactivated protein 11;OTTHUMP00000016779;OTTHUMP00000016782;hypothetical protein LOC55603;protein FAM46A;retinal expressed gene C6orf37 protein-coding ENSG00000112773 18345 13311 611357 VALIDATED 1350576 FAM53B family with sequence similarity 53, member B 10 10 10 q26.13 120081758 120206847 - 126297853 126422920 - 126307863 126432930 - 737633;6480464 12477932 15489334;14702039;12107410;8590280;19727342;23251661 9679 Q14153 ABBA01034148;AC068896;AK127323;AK127343;AL136232;AL513190;AMYH01003156;AW504054;BC031654;BX344666;CA397342;CH471066;D50930;NM_014661 AAH31654;BAA09489;BAG54488;EAW49259;EAW49260;EAW49261;EAW49262;NP_055476;Q14153 Hs.129195 1662686;1685698;1686742;1700098;2117321;2125171 RH103662;RH25363;RH44640;RH44867;RH8129;STS-AA007633 FLJ13019;KIAA0140;RP11-12J10.2;bA12J10.2 OTTHUMP00000020694;OTTHUMP00000020695;OTTHUMP00000245220;hypothetical protein LOC9679;protein FAM53B protein-coding ENSG00000189319 28968 13314 VALIDATED 1352003 FAM50B family with sequence similarity 50, member B 6 6 6 p25.2 5078622 5080541 + 3794631 3796550 + 3849632 3851551 + 1580863;6480464 18515502;16189514;15489334;12477932;10534398;17207965;22939629;21693764 26240 Q9Y247 ABBA01021996;AL391422;AMYH01016038;BC001261;CH471087;NM_012135;Y18503;Y18504 AAH01261;ADQ32294;CAB46272;CAB46273;EAW55142;EAW55143;NP_036267;Q9Y247 Hs.140944 1657825 SHGC-36878 D6S2654E;X5L OTTHUMP00000015970;OTTHUMP00000015971;family with sequence similarity 50, member B;protein FAM50B;protein XAP-5-like protein-coding ENSG00000145945 18789 16883 614686 PROVISIONAL 1348694 FAM49A family with sequence similarity 49, member A 2 2 2 p24.2 16610797 16684917 - 16597382 16710580 - 16730727 16847134 - 6480464 11256614;16381901;15489336;15489334;14702039;12477932;11230166;11076863;16344560;8619474;9110174 81553 C9IYV6;C9JPE5;Q53QW2;Q9H0Q0 ABBA01018513;AC008164;AC104623;AF131789;AK001942;AK055334;AK091280;AK315065;AL136704;AMYH01010139;AMYH01010140;AMYH01010141;AMYH01010142;BC038971;CH471053;CR533504;DA188616;NM_030797 AAH38971;AAY24282;ACT64351;ACT64352;BAG37539;BAG51503;BAG52323;CAB66639;CAG38535;CAL37916;CAL38652;EAX00878;EAX00879;NP_110424;Q9H0Q0 Hs.467769 1710912;1734936;2122365;2131384 A006V13;D2S1699E;SHGC-64850;SHGC-84078 DKFZp566A1524;FLJ11080;FLJ33961 OTTHUMP00000115751;OTTHUMP00000200457;family with sequence similarity 49, member A;protein FAM49A protein-coding ENSG00000197872 25373 07729 VALIDATED 1604984 FAM53A family with sequence similarity 53, member A 4 4 4 p16.3 1552616 1597093 - 1611605 1655516 - 1641608 1685988 - 6480464 15489334;14702039;12477932;11984880;8889548;21832049 152877 C9J9E1;C9JYQ7;H0Y9F1;Q6NSI3 ABBA01029534;ABBA01029535;ABBA01029536;AC016773;AC147067;AK125566;AMYH01013866;BC042071;BC070112;BM676712;CH471131;NM_001013622;NM_001174070 AAH70112;BAC86205;EAW82581;EAW82582;NP_001013644;NP_001167541;Q6NSI3 Hs.143314 2123492 G41951 DNTNP OTTHUMP00000216751;OTTHUMP00000216752;OTTHUMP00000216796;OTTHUMP00000217523;dorsal neural-tube nuclear protein;protein FAM53A protein-coding ENSG00000174137 31860 12900 VALIDATED 1344714 FAM50A family with sequence similarity 50, member A This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009] X X X q28 153833529 153840045 + 153325702 153332190 + 153672473 153679002 + 1580863;6480464 10534398;9339379;16381901;16344560;15772651;15489336;15489334;12477932;11076863;9039504;8889548;8733135;11256614;18029348;19913121;20628086;8248200;21832049;22939629;19471022;21139048;21890473;22505724 9130 B0S8I6;Q14320 ABBA01045279;ABBA01045280;ABBA01045281;AC244090;AD001530;AK293119;AK313697;AL365368;AMYH01023316;AU143518;BC000028;BC015499;BQ018378;BU679052;BX936365;CH471172;CR992165;D83260;D83389;HI574110;L44140;NG_013233;NM_004699;X87199 AAA92649;AAB81663;AAH00028;AAH15499;BAA11871;BAA11907;BAF85808;BAG36444;CAL38203;CBX47544;EAW72704;EAW72705;EAW72706;EAW72707;EAW72708;NP_004690;Q14320 Hs.54277 1665745;1807754;1808242;1812162;1812628;1813730;1816458;1816622;1817284;1817662;1844912;1845378;2037156;2037158;2037160;2037162;2037164;2037166;2037168;2037170;2037172;2037174;2037176;2037178;2037180;2037182;2037184;2037186;2037188;2037190;2037192;2037194;2037196;2037198;2037200;2037202;2037204;2037206;2037208;2037210;2037212;2037214;2037216;2037218;2037220;2037222;2037224;2037226;2037228;2037230;2037232;2037234;2037236;2102548;2102550;2102552;2102554;2102556;2102558;2107147;2176605;2190599;5021048 DXS9771;ECD04850;ECD05102;ECD07086;ECD07324;ECD07888;ECD09271;ECD09353;ECD09692;ECD09883;ECD23672;ECD23906;GDI1;GDI1__6799;REN89589;REN89590;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;REN89597;REN89598;REN89599;REN89600;REN89601;REN89602;REN89603;REN89604;REN89605;REN89606;REN89607;REN89608;REN89609;REN89610;REN89611;REN89612;REN89613;REN89614;REN89615;REN89616;REN89617;REN89618;REN89619;REN89620;REN89621;REN89622;REN89623;REN89624;REN89625;REN89626;REN89627;REN89628;REN89629;RH77733;SGC34656;stSG604053;stSG604055;stSG604056;stSG604057;stSG604058;stSG604059 9F;DXS9928E;HXC-26;HXC26;XAP5 OTTHUMP00000032117;OTTHUMP00000198798;XAP-5 protein;protein FAM50A;protein XAP-5 APPROVED protein-coding ENSG00000071859 18786 02349 300453 REVIEWED 1354500 FAM49B family with sequence similarity 49, member B 8 8 8 q24.21 127031822 127130443 - 130922898 131021182 - 130851839 131028897 - 6480464 18464913;15489334;15334068;14702039;12477932;11042152;17207965;21555518;21900206;18781797;21139048;21890473;21906983;21963094;16344560;19322201;23000965;22505724 51571 E5RFS4;E5RGI7;E5RH75;E5RHU5;E5RI16;E5RIR8;E5RJE1;E5RJL8;E5RK61;E5RK81;Q9NUQ9;Q9NW21 ABBA01037971;ABBA01037972;ABBA01037973;AC022973;AC131568;AF208851;AK001226;AK002059;AK130372;AMYH01019021;AMYH01019022;AMYH01019023;AMYH01019024;AMYH01019025;AY364259;AY598320;BC003599;BC016345;BC017297;BX419336;CH471060;CR749628;DA371541;NM_001256763;NM_016623;NR_046359;NR_046360;NR_046361 AAF64265;AAH03599;AAH16345;AAH17297;AAQ76818;AAT06731;ADQ33146;BAA91566;BAA92062;CAH18422;EAW92125;EAW92126;EAW92127;EAW92128;NP_001243692;NP_057707;Q9NUQ9 Hs.126941 1342039;1658275;1668590;1725037;1765559;1769945;2114702;2165240;5015961;5022322;5037552 D11S2560;D15S1477;D8S1701;D8S1968;D8S2279;G09539;RH118815;RH12645;RH69999;SHGC-149025;WI-15117 BM-009;DKFZp686B04128;L1 OTTHUMP00000227563;OTTHUMP00000227564;OTTHUMP00000227565;OTTHUMP00000227566;OTTHUMP00000227567;OTTHUMP00000227568;OTTHUMP00000227569;OTTHUMP00000227570;OTTHUMP00000227571;hypothetical protein LOC51571;protein FAM49B protein-coding ENSG00000153310 25216 13313 VALIDATED 6483749 FAM58DP family with sequence similarity 58, member D, pseudogene 13 19956512 19957248 + 100421566 ABBA01068554;AL356259;AMYH01004936;NG_024890 pseudo 42022 INFERRED 4108538 FAM58CP family with sequence similarity 58, member C, pseudogene Y Y 9704475 9705198 - 28772670 28773393 - 100421487 ABBA01015475;AC019099;NG_021933 FAM58AP1;FAM58Y APPROVED pseudo 38436 INFERRED 1354003 FAM53C family with sequence similarity 53, member C 5 5 5 q31 133794053 133806249 + 137701867 137713317 + 137673224 137685418 + 6480464 16344560;15489334;15302935;14702039;12477932;11161817;11087669;17207965;20936779 51307 D6RE00;D6RHW3;Q9NYF3 ABBA01068681;AC104116;AF251040;AK027412;AK310378;AK315567;AMYH01015642;BC000259;BC052993;CH471062;DA216192;DB035183;NM_001135647;NM_016605 AAF63766;AAH00259;AAH52993;ADQ32415;BAG37942;EAW62143;EAW62144;NP_001129119;NP_057689;Q9NYF3 Hs.594658 1665977;1780668;2130972;2182462 RH12724;RH48553;RH69348;bac51558S C5orf6 OTTHUMP00000159487;OTTHUMP00000224021;hypothetical protein LOC51307;protein FAM53C;putative nuclear protein protein-coding ENSG00000120709 1336 10785 609372 VALIDATED 5508553 FAM60BP family with sequence similarity 60, member B pseudogene 18 q11.2 23835662 23836321 - 100421588 ABBA01022580;AC016839;AMYH01008901;NG_026282 HsT2323 pseudo 19052 INFERRED 4146227 FAM60CP family with sequence similarity 60, member C pseudogene 18 18 18 q21.32 54402018 54402812 - 55832836 55835854 - 57684007 57684801 - 728115 ABBA01056176;AC090377;AMYH01009040;NG_027872 pseudo 31737 INFERRED 5489137 FAM60DP family with sequence similarity 60, member D pseudogene 8 8 p21.2 23546171 23548965 - 23492380 23493020 - 646721 ABBA01005546;AC051642;AMYH01018576;NG_022381 1686196;1755541;1765275;1775282;1777339 D8S1077;RH80368;SHGC-142393;SHGC-148775;STS-R98014 pseudo 19896 INFERRED 1604257 FAM58A family with sequence similarity 58, member A Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] X X X q28 153087076 153098328 - 152506577 152517775 - 152853383 152864632 - 6480464;7240710 18297069;17213182;16381901;15489336;12477932;11076863;21988832;22961080 92002 H7C1X6;H7C3N1;J3QT30;K7EM37;Q8N1B3 ABBA01045382;ABBA01045383;AF274858;AL549300;AMYH01023295;AY445048;BC001909;BC007232;BC032121;BC071851;BG766429;CH471172;DQ323993;DT217835;FQ908264;NG_008393;NM_001130997;NM_152274 AAH01909;AAH07232;AAH32121;AAH71851;AAS20614;ABC88595;CAL38542;EAW72851;EAW72852;EAW72853;EAW72854;EAW72855;EAW72856;EAW72857;NP_001124469;NP_689487;Q8N1B3 Hs.496943 2144252;5024219;5107759 G04051;RH48051;RH78287 MGC29729;STAR OTTHUMP00000025931;OTTHUMP00000025932;OTTHUMP00000025936;OTTHUMP00000025937;OTTHUMP00000025938;cyclin M;cyclin-M;cyclin-related protein FAM58A APPROVED protein-coding ENSG00000147382 28434 06645 300707;300708 REVIEWED 1603153 FAM58BP family with sequence similarity 58, member B, pseudogene 1 1 1 q32.1 173305295 173306282 + 198449279 198450266 + 200182656 200183643 + 6480464 15897902;12477932 339521 P0C7Q3 ABBA01027556;AL590126;AMYH01001634;CH471067;NG_033015;NM_001105517 AAI72299;EAW91309;NP_001098987;P0C7Q3 FAM58B cyclin-related protein FAM58B;family with sequence similarity 58, member B;putative cyclin-related protein FAM58B APPROVED pseudo 27373 INFERRED 1605629 FAM57A family with sequence similarity 57, member A 17 17 17 p13.3 647932 658167 + 582597 592825 + 635847 646075 + 6480464 16143812;15489334;14702039;12621583;12477932;12270127;1227012;20024628;21906983 79850 I3L0N4;I3L183;I3L336;I3L374;Q8TBR7 ABBA01054619;AC087392;AF477201;AK025935;AK125146;AK292065;AMYH01007978;AMYH01007979;BC009729;BC026023;CH471108;NM_024792 AAH09729;AAH26023;AAM90843;BAB15286;BAF84754;BAG54156;EAW90655;EAW90656;EAW90657;NP_079068;Q8TBR7 Hs.154396 1697662;1852136 G31063;RH102346 CT120;FLJ22282 family with sequence similarity 57, member A;membrane protein expressed in epithelial-like lung adenocarcinoma;protein FAM57A protein-coding ENSG00000167695 29646 13096 611627 PROVISIONAL 1605610 FAM57B family with sequence similarity 57, member B 16 16 16 p11.2 72753538 72759976 + 29943249 29949687 - 30035748 30042186 - 6480464 11256614;16381901;15498874;15489336;15489334;12477932;11230166;11076863;21697133;23275342 83723 F1T0F5;H3BST4;H3BUM7;H3BUS2;I3L180;Q71RH2 AB593089;AB593090;ABBA01013108;ABBA01013109;AC093512;AF370365;AL136777;AL535138;AMYH01007497;BC007892;CH471238;NM_031478 AAH07892;AAQ15201;BAJ84029;BAJ84030;CAB66711;CAL37764;CAL38514;EAW79937;EAW79938;EAW79939;NP_113666;Q71RH2 Hs.558560 1675614 RH78407 DKFZp434I2117;FP1188 OTTHUMP00000162980;OTTHUMP00000162981;hypothetical protein LOC83723;protein FAM57B protein-coding ENSG00000149926 25295 13156 615175 VALIDATED 1347576 FAM60A family with sequence similarity 60, member A 12 12 12 p11 11254383 11300023 - 31324785 31370340 - 31433518 31479159 - 737633;6480464 12477932 16381901;16344560;16189514;15489336;15489334;15334068;14702039;11230166;11076863;11042152;19322201;22865885;22984288;22505724 58516 F5GZ82;F5H6U2;H0YGG0;Q9NP50 ABBA01031756;ABBA01031757;AC024940;AF087885;AF212220;AK026932;AK294457;AL157432;AMYH01004364;AX014855;AY598323;BC000024;BC004462;BC071966;BX648630;CH471116;DA741767;DR763430;FB775512;NM_001135811;NM_001135812;NM_021238 AAF87322;AAH00024;AAH04462;AAH71966;AAP97184;AAT06734;BAB15592;BAH11773;CAB75656;CAL37992;CAV30713;EAW88561;EAW88562;EAW88563;EAW88564;EAW88565;EAW88566;EAW88567;NP_001129283;NP_001129284;NP_067061;Q9NP50 Hs.505154 1340024;1725971;1752359;5037552 D12S61;D8S2279;G62330;SHGC-106300 C12orf14;L4;TERA OTTHUMP00000239099;OTTHUMP00000239100;chromosome 12 open reading frame 14;family with sequence similarity 60, member A;protein FAM60A;tera protein homolog protein-coding ENSG00000139146 30702 16588 615027 VALIDATED 1313101 FAM65C family with sequence similarity 65, member C 20 20 20 q13.13 45906933 45957690 - 48636052 48686833 - 49202645 49253426 - 6480464 15197164;15146197;14702039;12107410;11780052;20877624 140876 F5H0X2;Q96MK2 ABBA01052781;AI056877;AK056792;AK090440;AK295781;AK299337;AL133230;AL732057;AMYH01011973;AMYH01011974;CA389799;CF272670;CH471077;CN268262;DT932687;NM_080829 AAI60013;BAB71286;BAC03421;BAH12186;BAH13006;EAW75618;EAW75619;EAW75620;EAW75621;EAW75622;NP_543019;Q96MK2 Hs.372578 1652082;1850380;5015861;5015961;5016478;5020948;5021369;5022322;5022578;5037552;7185938 D10S16;D11S2560;D15S1477;D1S1423;D8S2279;G27961;G35510;GDB:434012;L17796;RH16244 C20orf175;C20orf176;FLJ00360;FLJ32230;dJ530I15.2;dJ530I15.3 OTTHUMP00000165079;hypothetical protein LOC140876;protein FAM65C protein-coding ENSG00000042062 16168 12757 PREDICTED 1606655 FAM5C family with sequence similarity 5, member C 1 1 1 q31.1 163175438 163555389 - 188333420 188713382 - 190066797 190446759 - 6480464 18430236;17903301;17138656;16710414;16018821;15489334;12477932;19019082;19787213;20379614;20383335;20339536;22377736;20972266;22355820;15193423 339479 B1AMP1;B7Z260;Q76B58 AB111893;ABBA01027668;ABBA01027669;ABBA01027670;ABBA01027671;ABBA01027672;AK123024;AK123637;AK294365;AL354771;AL365402;AL391645;AMYH01001579;AMYH01001580;BC105052;BC105054;CH471067;NM_199051;U67037 AAD09521;AAI05053;AAI05055;BAD04066;BAG53853;BAG53928;BAH11746;EAW91222;NP_950252;Q76B58 Hs.65765 1337073;1662833;1691954;1693074;1693158;1719783;1723105;2134089;2138346;2180558;2184844 AL009522;AL009831;AL009942;AL033615;AL034265;AL034306;D1S1189;D1S1877E;D1S2151;RH123583;RH123739 BRINP3;DBCCR1L;DBCCR1L1;RP11-445K1.1 DBCCR1-like protein 1;OTTHUMP00000033554;family with sequence similarity 5, member C;protein FAM5C protein-coding ENSG00000162670 22393 16782 PROVISIONAL 2303336 FAM66A family with sequence similarity 66, member A 8 8 8 p23.1 11104785 11111078 + 12263894 12264754 + 12219528 12268510 + 16344560;11181995 100133172 ABBA01026873;AC087203;AK311040;AMYH01018523;CH471157;DC372067;NR_026789 EAW65640 Hs.721640 FLJ18082 miscrna ENSG00000227888 30444 PREDICTED 1315839 FAM65B family with sequence similarity 65, member B The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p22.3-p21.32 26037884 26138491 - 24947566 24985562 - 24804513 24911195 - 6480464 22554406;17150207;16344560;12477932;12369935;9786461;9205841;9055809;20936779;21190562;21988832;17825087 9750 B7Z6U4;F5GX51;F5H029;H3BP45;Q9Y4F9 AB002384;ABBA01066538;ABBA01066539;AK299047;AK300138;AK300950;AL078584;AL512428;AMYH01016152;AMYH01016153;AMYH01016154;AMYH01016155;AMYH01016156;BC000930;BC001232;CH471087;DA258515;DA675350;NM_014722;NM_015864;U49187 AAC51134;AAH01232;BAA20840;BAH12935;BAH13222;BAH13380;EAW55467;EAW55468;EAW55469;EAW55470;EAW55471;EAW55472;NP_055537;NP_056948;Q9Y4F9 Hs.559459 1336036;1690450;1792874;2132780;2189697;5022578 D1S1423;D6S1554;D6S2235;PMC166143P9;RH93877;STS-U49187 C6orf32;DIFF40;DIFF48;KIAA0386;MYONAP;PL48 OTTHUMP00000016104;OTTHUMP00000016105;family with sequence similarity 65, member B;hypothetical protein LOC9750;myogenesis-related and NCAM-associated protein homolog;protein FAM65B APPROVED protein-coding ENSG00000111913 13872 12881 611410 VALIDATED 3398788 FAM66B family with sequence similarity 66, member B 8 8 p23.1 7167578 7170595 - 7159133 7212876 - 14702039 100128890 ABBA01134830;AC130360;AF228730;AK302471;AMYH01018410;AMYH01018411;AMYH01018412;AMYH01018413;AMYH01018414;AMYH01018415;AMYH01018416;AMYH01018417;AMYH01018418;AMYH01018419;AMYH01018420;AMYH01018421;AMYH01018422;AMYH01018423;NR_027423 BAG63761 Hs.694680 FAM66E;FLJ53539 miscrna ENSG00000215374 28890 VALIDATED 2303483 FAM66D family with sequence similarity 66, member D 8 8 p23.1 12016836 12047213 + 11973291 12008698 + 6480464 100132923 AC130366;AC145124;AK294595;AL390183;AMYH01018490;NR_027425;XR_171720 BAG57783 Hs.546711 FLJ56781 miscrna ENSG00000255052 24159 PREDICTED 1605163 FAM66E family with sequence similarity 66, member E 8 8 p23.1 7849942 7850793 + 7812535 7866277 + 100132103 P0C841 ABBA01001664;AC105233;AC130365;AMYH01018319;NR_027424 P0C841 Hs.694680 miscrna ENSG00000225725 18735 PREDICTED 1607025 FAM63B family with sequence similarity 63, member B 15 15 15 q21.3 35951332 36037699 + 56850685 56937046 + 59063393 59149754 + 6480464 16344560;14702039;12477932;10574461;21139048;21890473;21906983 54629 H0YLR1;H0YM15;J3KNL7;Q8NBR6 AB032990;AB075509;ABBA01038977;ABBA01038978;ABBA01038979;ABBA01038980;ABBA01038981;ABBA01038982;ABBA01038983;AC090515;AK022891;AK075319;AK297291;AL049226;AL833610;AMYH01006681;BC035563;BC060514;BC140811;BC144616;CH471082;DA248971;DB523031;NM_001040450;NM_001040453 AAI40812;AAI44617;BAA86478;BAC11545;BAE45756;BAG59761;EAW77544;EAW77545;EAW77546;EAW77547;EAW77548;NP_001035540;NP_001035543;Q8NBR6 Hs.591122 1341295;1791290;2121585;5015961;5022578;5037552 D15S1477;D15S964;D1S1423;D8S2279;MARC_9996-9997:996688749:1;RH78819 KIAA1164 hypothetical protein LOC54629;protein FAM63B protein-coding ENSG00000128923 26954 13835 VALIDATED 1603985 FAM63A family with sequence similarity 63, member A 1 1 1 q21.3 124084996 124096549 - 149234173 149245957 - 150969301 150980854 - 6480464 15231747;16344560;14702039;12477932;10718198;17207965;20383146;21139048;21890473;21906983 55793 D3DV11;H0YJH5;Q9NUL9 AB037811;ABBA01049365;AK002142;AK125493;AK125959;AK301946;AK303962;AL590133;AMYH01001386;AW072847;BC014447;BC032321;BC075812;CH471121;DA016747;DA292825;DA677196;DB023382;NM_001040217;NM_001163258;NM_001163259;NM_001163260;NM_018379 AAH32321;ADQ31746;BAA92104;BAA92628;BAG54206;BAG54270;BAG63364;BAG64886;EAW53491;EAW53492;EAW53493;EAW53494;EAW53495;NP_001035307;NP_001156730;NP_001156731;NP_001156732;NP_060849;Q8N5J2 Hs.743952 1682549;1768131;2217016;5015861;5015881;5015961;5020948;5022200;5022322;5022450;5022576;5022588;5022651;5037552;5125846;7185938 ANXA9_2947;D10S16;D10S275;D11S2560;D11S2921;D15S1477;D1S1361;D5S1597E;D8S2279;G35510;GDB:335751;L18426;RH98597;SHGC-107;WI-15024 FLJ11280;FLJ43504;RP11-316M1.5 OTTHUMP00000033018;OTTHUMP00000033019;OTTHUMP00000245144;OTTHUMP00000245145;OTTHUMP00000245146;hypothetical protein LOC55793;protein FAM63A protein-coding ENSG00000143409 25648 07746 VALIDATED 1349970 FAM6A family with sequence similarity 6, member A 11352565 282696 AF307337 14020 1606508 FAM65A family with sequence similarity 65, member A 16 16 16 q22.1 52070951 52088932 + 66120255 66138190 + 67562717 67580691 + 6480464 18029348;15302935;14702039;12477932;11572484;15146197;22863883;21139048;21900206 79567 H3BMG9;H3BP86;H3BQI5;H3BS40;H3BSV5;H3BSX9;H3BU12;H3BUP6;H3BV02;Q96PV8 AB067517;ABBA01025441;AC027682;AK023787;AK097087;AK127792;AK293748;AK295677;AK302868;AK307467;AL834312;AMYH01007748;BC001850;BC054512;BC098587;CH471092;CN401995;DC310605;DC422629;HI573872;NM_001193522;NM_001193523;NM_001193524;NM_024519 AAH01850;AAH54512;AAH98587;AAI56640;BAB14678;BAB67823;BAC87139;BAG57170;BAG58534;BAG64050;CAD38982;CBX47425;EAW83138;EAW83139;EAW83140;EAW83141;NP_001180451;NP_001180452;NP_001180453;NP_078795;Q6ZS17 Hs.152717 1654725;1698834 RH102981;STS-AA040937 FLJ13725;KIAA1930 OTTHUMP00000174838;OTTHUMP00000174839;OTTHUMP00000174840;hypothetical protein LOC79567;protein FAM65A protein-coding ENSG00000039523 25836 08586 VALIDATED 1604005 FAM64A family with sequence similarity 64, member A 17 17 17 p13.2 6368303 6374898 + 6288519 6295108 + 6347735 6354385 + 6480464 18757745;15489334;14702039;12477932;8125298;16491119;18482256;21832049;19383357;23419774 54478 I3L156;I3L2R2;I3L419;I3L427;Q9BSJ6 ABBA01054828;AC055872;AK001018;AK001353;AK225613;AK225702;AMYH01008058;BC005004;BC013966;CH471108;NM_001195228;NM_019013 AAH05004;AAH13966;BAA91468;BAA91644;EAW90306;EAW90307;EAW90308;EAW90309;NP_001182157;NP_061886;Q9BSJ6 Hs.592116 1670531;1701620 RH104452;RH15958 CATS;FLJ10156;FLJ10491;RCS1 CALM interacting protein expressed in thymus and spleen;CALM-interactor expressed in thymus and spleen;family with sequence similarity 64, member A;protein FAM64A;regulator of chromosome segregation 1;regulator of chromosome segregation protein 1 protein-coding ENSG00000129195 25483 07649 VALIDATED 1602394 FAM66C family with sequence similarity 66, member C 12 12 p13.31 8232266 8240835 + 8332805 8353596 + 6480464 14702039;12477932 440078 ABBA01012238;AC092111;AK096301;AMYH01004225;AMYH01004226;BC034777;BC048994;NR_026788 Hs.512257 5022578 D1S1423 miscrna ENSG00000226711 21644 PREDICTED 1353681 FAM69C family with sequence similarity 69, member C This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] 18 18 18 q22.3 68970325 68991868 - 70253943 70276159 - 72102963 72124503 - 12477932;20379614;21334309 125704 Q0P6D2 ABBA01056325;AC009704;AI375747;AMYH01009096;BC019628;NM_001044369 AAH19628;NP_001037834;Q0P6D2 Hs.371690 1731709 D18S515 C18orf51 OTTHUMP00000211239;hypothetical protein LOC125704;protein FAM69C APPROVED protein-coding ENSG00000187773 31729 614544 VALIDATED 1602652 FAM69B family with sequence similarity 69, member B This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011] 9 9 9 q34.3 110120381 110132293 + 138726851 138738310 + 139607024 139619170 + 6480464 12477932;16169070;21145461;21334309 138311 Q5VUD6 ABBA01022718;ABBA01022719;AF318355;AJ420457;AL355987;AL590226;AMYH01021870;BC032097;BG700129;CH471090;NM_152421 AAH32097;AAL55862;EAW88253;EAW88254;NP_689634;Q5VUD6 Hs.741305 1664573;1685684;1787132;2121221;2155466;2177585 RH66592;RH73;RH93915;SHGC-155365;STS-W68702;WI-18241 C9orf136;MGC20262;pp6977 OTTHUMP00000022600;hypothetical protein LOC138311;protein FAM69B APPROVED protein-coding 28290 14468 614543 VALIDATED 1606142 FAM71B family with sequence similarity 71, member B 5 5 5 q33.3 152615874 152619810 - 156521921 156525856 - 156589343 156593279 - 6480464 14702039;12477932;18029348 153745 Q8TC56;Q8TEW9 ABBA01044273;AC010609;AF465821;AK057543;AMYH01015744;AY973323;BC022035;BC025397;BC025409;BC025998;CH471062;NM_130899 AAH22035;AAH25397;AAH25409;AAH25998;AAL77003;AAY41236;ADZ15657;BAB71526;EAW61609;NP_570969;Q8TC56 Hs.666099 MGC26988 Golgi-associated Rab2B interactor-like 3;OTTHUMP00000160738;family with sequence similarity 71, member B;protein FAM71B protein-coding ENSG00000170613 28397 14516 VALIDATED 1603475 FAM69A family with sequence similarity 69, member A This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p22.1 91561313 91696457 - 93071041 93199601 - 93298286 93427079 - 6480464 19506219;16710414;15489334;12477932;20889312;19834503;20087403;17207965;21334309;16344560;20881960;17660530;19525955 388650 Q5T7M9 ABBA01045531;AC093577;AK027146;AK303700;AL162740;AL449283;AL536469;AL702320;AMYH01000800;BC070342;BF979329;CH471097;DA141589;DA155419;DA348631;DA736826;DB199113;DB475309;DB498496;NG_033051;NM_001006605;NM_001252269;NM_001252270;NM_001252271;NM_001252273 AAH70342;ADQ32038;BAG64686;EAW73086;NP_001006606;NP_001239198;NP_001239199;NP_001239200;NP_001239202;Q5T7M9 Hs.180946 1336230;1699320;1760605;1848444;2123613;2156327;2156329 A005R15;D1S2576;D1S2868;G20435;RH103247;SHGC-144158;SHGC-75143 FLJ23493 OTTHUMP00000012580;family with sequence similarity 69, member A;protein FAM69A APPROVED protein-coding ENSG00000154511 32213 14204 614542 REVIEWED 1606700 FAM71A family with sequence similarity 71, member A 1 1 1 q32.3 186023850 186026181 + 210864439 210866740 + 212797789 212800120 + 6480464 16710414;15489334;14702039;12477932;16344560 149647 B2RCB4;B3KQ44;B4DXH7;Q8IYT1 ABBA01048167;AK057358;AK301981;AK315021;AL590648;AMYH01001708;BC035007;CH471100;DB031502;DB509538;NM_153606 AAH35007;BAG37511;BAG51906;BAG63389;EAW93382;NP_705834;Q8IYT1 Hs.129293 FLJ32796;RP11-338C15.4 OTTHUMP00000038596;hypothetical protein LOC149647;protein FAM71A protein-coding ENSG00000162771 26541 08735 VALIDATED 1604551 FAM71E1 family with sequence similarity 71, member E1 19 19 19 q13.33 48020207 48030144 - 55661857 55671815 - 50970045 50980003 - 6480464 12477932 112703 B3KWT0;M0R2A1;Q6IPT2 ABBA01068319;ABBA01068320;ABBA01068321;AC020909;AK125745;AK131032;AMYH01009939;BC004941;BC012203;BC071737;CH471135;NM_138411 AAH04941;AAH12203;AAH71737;BAG54242;EAW71867;EAW71868;EAW71869;EAW71870;NP_612420;Q6IPT2 Hs.448941 5016783 RH98508 FLJ27522;FLJ43757 hypothetical protein LOC112703;protein FAM71E1 protein-coding ENSG00000142530 25107 18718 PREDICTED 1348410 FAM71E2 family with sequence similarity 71, member E2 19 19 19 q13.42 52907242 52915424 - 60561321 60566440 - 55866276 55874620 - 12477932;19913121;20628086 284418 K7EMA1;Q8N5Q1;Q8ND99 ABBA01068103;ABBA01068104;ABBA01068105;AC020922;AK127979;AL834316;AMYH01009992;AMYH01009993;BC031875;NM_001145402 AAH31875;CAD38986;NP_001138874;Q8N5Q1 Hs.528319 C19orf16;DKFZp434G1729;MGC35045 hypothetical protein LOC284418;protein FAM71E2;putative protein FAM71E2;uncharacterized protein LOC284418 protein-coding ENSG00000180043 25278 PREDICTED 1625814 FAM72C family with sequence similarity 72, member C 1 q21.2 149449934 149459449 - 554282 H0Y354 ABBA01153460;AC246680;AL109948;AMYH01001371;XM_003846498;XM_003846499;XM_003846500;XM_003960201;XM_003960202;XM_003960203;XR_158743;XR_172495 CAI23570;XP_003846546;XP_003846547;XP_003846548;XP_003960250;XP_003960251;XP_003960252 Hs.568238;Hs.744303 5113589 RH25908 RP5-998N21.9 family with sequence similarity 72, member C protein-coding ENSG00000203817 30602 MODEL 1606688 FAM71C family with sequence similarity 71, member C 12 12 12 q23.1 99707381 99709673 + 98565662 98567958 + 100041528 100043892 + 16189514;15489334;12477932;17207965;16344560;21988832 196472 Q8NEG0 AA401734;ABBA01053273;AC141554;AK312767;AMYH01004693;AW181907;BC031221;CH471054;DB055853;DB514813;HC006952;HC044745;NG_029860;NM_153364 AAH31221;ADQ31621;BAG35633;CBH19281;CBH30702;EAW97617;NP_699195;Q8NEG0 Hs.591011 MGC39520 OTTHUMP00000243473;hypothetical protein LOC196472;protein FAM71C protein-coding ENSG00000180219 28594 17539 VALIDATED 1606759 FAM71F1 family with sequence similarity 71, member F1 7 7 7 q32.1 123151202 123167550 + 128142679 128159033 + 128355443 128371797 + 6480464 18317470;14702039;12477932;17207965 84691 F8WC62;F8WC78;F8WEX9;H7C4R1;Q8NA48;Q96KD3 AACC02000035;ABBA01057656;AC018638;AC024952;AC093183;AF367470;AK093161;AK302221;AK310308;AK310426;AK313608;AMYH01017924;BC032842;BC037248;BC040906;BG723812;CH236950;CH471070;HC007190;NM_032599 AAH37248;AAK53406;ADQ32808;BAC04080;BAG63577;CBH19400;EAW83670;NP_115988;Q96KD3 Hs.732440 1699696;1750609 RH103453;SHGC-111904 FAM137A;NYD-SP18 OTTHUMP00000212720;OTTHUMP00000212721;family with sequence similarity 137, member A;protein FAM71F1;testes development-related NYD-SP18;testis development protein NYD-SP18 protein-coding ENSG00000135248 30704 14861 VALIDATED 1604702 FAM71F2 family with sequence similarity 71, member F2 7 7 7 q32.1 123108100 123119125 + 128099582 128110611 + 128312346 128323375 + 6480464 17672918;12690205;12477932 346653 C9K0C0;Q6NXP2 ABBA01057659;AC018638;AC093183;AMYH01017921;AMYH01017922;BC047310;BC066973;BC105729;BC105730;BC105731;BI828876;CH236950;CH471070;NM_001012454;NM_001128926 AAH47310;AAH66973;AAI05730;AAI05731;AAI05732;EAL24114;EAW83666;NP_001012457;NP_001122398;Q6NXP2 Hs.445236 1691242;2123285;5107565 D7S2965;RH99249;SHGC-56811 FAM137B OTTHUMP00000212716;OTTHUMP00000212717;OTTHUMP00000212718;OTTHUMP00000212719;family with sequence similarity 137, member B;hypothetical protein LOC346653;protein FAM71F2 protein-coding ENSG00000205085 27998 17840 VALIDATED 1353197 FAM71D family with sequence similarity 71, member D 14 14 14 q23.3 47715205 47754324 + 66725899 66765020 + 67656110 67695267 + 18029348;15489334;14702039;12477932;16344560 161142 E9PM27;E9PPX0;G3V4K8;H0YJ27;H0YJQ5;H3BMS9;Q8N9W8 ABBA01023718;ABBA01023719;AK093449;AK302154;AL135978;AMYH01005812;BC037380;BC050401;CH471061;DB056257;NM_173526 AAH50401;BAC04169;BAG63525;EAW80927;NP_775797;Q8N9W8 Hs.412818;Hs.733286 1793058;2113874 AB070000;PMC193924P1 C14orf54;FLJ36130 OTTHUMP00000233462;OTTHUMP00000233465;chromosome 14 open reading frame 54;hypothetical protein LOC161142;protein FAM71D protein-coding ENSG00000172717 20101 12653 VALIDATED 1625813 FAM72B family with sequence similarity 72, member B 1 1 p11.2 120640528 120657204 + 120839005 120855681 + 12477932;19755123;22505724 653820 Q5QP12;Q86X60 AC244453;AL357493;AMYH01000981;BC046199;BC137546;NM_001100910 AAH46199;AAI37547;CAI14136;CAI14137;CAI14138;CAI14139;NP_001094380;Q86X60 Hs.339665 5113589 RH25908 RP11-439A17.6;p17 OTTHUMP00000038570;OTTHUMP00000038571;OTTHUMP00000038572;OTTHUMP00000038573;amyloid-beta peptide-induced protein p17;hypothetical protein LOC653820;protein FAM72B protein-coding ENSG00000188610 24805 614711 PROVISIONAL 1625851 FAM74A3 family with sequence similarity 74, member A3 9 9 p13.1 40705662 40712679 + 40715524 40722679 + 728495 M0QYJ0;Q4VXF1 AL353770;AMYH01019699;AMYH01019700;NR_026801 Q4VXF1 Hs.723007 miscrna ENSG00000204844 32031 PREDICTED 1626691 FAM72D family with sequence similarity 72, member D 1 1 q21.1 142617325 142624511 - 143896452 143913143 - 6480464 12477932;19322201;22505724 728833 Q6L9T8 AB096683;ABBA01169368;AC242498;AK307197;AL109844;AMYH01001372;CR589924;NM_207418 BAD20788;CAM28367;CAM28368;CAM28369;NP_997301;Q6L9T8 Hs.535577 5113589 RH25908 FLJ97145;GCUD2;MGC182081;MGC182095;MGC57827 OTTHUMP00000083523;family with sequence similarity 72 member;gastric cancer up-regulated protein 2;gastric cancer up-regulated-2;hypothetical protein LOC653573;hypothetical protein LOC728833;protein FAM72D protein-coding ENSG00000215784 33593 614712 PREDICTED 2292058 FAM74A5 family with sequence similarity 74, member A5 9 9 p13.1 39360916 39362036 + 39370916 39372036 + 653809 BX005214;NG_009745 pseudo ENSG00000215112 34035 INFERRED 1626688 FAM72A family with sequence similarity 72, member A 1 1 q32.1 204299717 204321779 + 206138911 206155074 + 6480464 18676834;16710414;15489334;15252450;12477932;21317926;19755123;22505724 729533 Q5TYM5;Q5TYM6 AC244035;AMYH01001676;BC035696;BC137545;BC146978;BC146992;CR407567;DQ786198;NM_001123168 AAH35696;AAI37546;AAI46979;AAI46993;CAH72364;CAH72365;CAH72366;NP_001116640;Q5TYM5 Hs.661924 5113589 RH25908 LMPIP;MGC169168;MGC182081;MGC182095;MGC46651;MGC57827;RP11-312O7.1 LMP1-induced protein;OTTHUMP00000039535;OTTHUMP00000039536;OTTHUMP00000039537;Protein FAM72A;Ugene;hypothetical protein LOC729533;latent membrane protein 1-induced protein protein-coding 24044 614710 PREDICTED 2298826 FAM74A6 family with sequence similarity 74, member A6 9 9 p12 41505908 41513018 + 41515908 41523018 + 653123 Q5TZK3 AL590491;NG_009678 pseudo 34036 INFERRED 2293176 FAM74A7 family with sequence similarity 74, member A7 9 p11.2 43548278 43555523 - 100133021 A6NL05 AL445584;XM_001718398 XP_001718450 protein-coding 34037 1349918 FAM75B family with sequence similarity 75, member B 9 q21.32 83865480 83866824 - 404770 Q5VZV4 AL158047;NM_001098807;NM_001164339 CAH73247;NP_001092277;NP_001157811;Q5VZV4 Hs.584122 C9orf36B;bA388B24.2 chromosome 9 open reading frame 36b protein-coding 31411 2306345 FAM74A2 family with sequence similarity 74, member A2 9 9 p12 41212482 41302131 - 41305112 41312131 - 15489334;15164053 653114 M0R2U5;Q5RGS3 AL596385;NR_027461 CAI95395;Q5RGS3 Hs.742601 FLJ45202 miscrna 32030 PREDICTED 1605523 FAM73A family with sequence similarity 73, member A 1 1 1 p31.1 76484888 76583132 + 78017897 78116680 + 78245309 78345225 + 6480464 14702039;12477932;19322201 374986 B4DK63;B7ZLZ8;F8W7S1;Q8NAN2;R4GMP2 ABBA01074393;AC114487;AC138392;AK092412;AK296411;AMYH01000722;BC130387;BC144167;BX537792;BX641170;CA436207;CH471059;NM_001270384;NM_198549 AAI30388;AAI44168;BAC03880;BAG59075;CAD97844;CAE46075;EAX06364;NP_001257313;NP_940951;Q8NAN2 Hs.437755 2152864;2159524;2162265;5015861;5015961;5016851;5022200;5022322;5022651;5037552;5037554;5125976;7185938 5q31-33_35;AL010047;D10S16;D11S2560;D11S2921;D15S1477;D1S3514;D8S2279;D8S2282;G31497;L18426;RH80031 DKFZp686M07166;FLJ35093 OTTHUMP00000011335;hypothetical protein LOC374986;protein FAM73A protein-coding ENSG00000180488 24741 13415 VALIDATED 1322047 FAM73B family with sequence similarity 73, member B 9 9 9 q34.11 102451566 102486648 + 130839074 130874172 + 131799253 131834351 + 6480464 16303743;14702039;12477932 84895 B0QZG3;H7C474;Q7L4E1 ABBA01043914;AJ420465;AK027502;AK054974;AK074127;AK075421;AK301241;AK303036;AL592211;AMYH01021754;BC009114;CH471090;NM_032809 AAH09114;BAB55159;BAB70835;BAB84953;BAC11611;BAG62810;BAG64160;EAW87861;EAW87862;EAW87863;EAW87864;EAW87865;EAW87866;NP_116198;Q7L4E1 Hs.632693 1729900;1735854;1801218;1801604;1803290;1804314;1806724;1806986;1807718;1809922;1810294;1811490;1812686;1813574;1817702;1821016;1823212;1824600;1827696;1831064;1836264;1836606;1842674;1843232;1845180;1845418;1931082;1931084;1931086;1931088;1931090;1931092;1931094;1931096;1931098;1931100;1931102;1931104;1931106;1931108;1931110;1931112;1931114;1931116;1931118;1931120;1931122;1931124;1931126;1931128;1931130;1931132;1931134;1931136;1931138;1931140;1931142;1931144;1931146;1931148;1931150;1931152;1931154;1931156;1931158;1931160;1931162;1931164;1931166;1931168;1931170;1931172;1931174;1931176;1931178;1931180;1931182;1931184;1931186;1931188;1931190;1931192;1931194;1931196;1931198;1931200;1931202;1931204;1931206;1931208;1931210;1931212;1931214;1931216;1931218;1931220;1931222;1931224;1931226;1931228;1931230;1931232;1931234;1931236;1931238;1931240;1931242;1931244;1931246;1931248;1931250;1931252;1931254;1931256;1931258;1931260;1931262;1931264;1931266;1931268;1931270;1931272;1931274;1931276;1931278;1931280;1931282;1931284;1931286;1931288;1931290;1931292;1931294;1931296;1931298;2169491;2208184;2208186;2208188;2208190;2208192;2208194;2208196;2208198;2208200;2208202;2208204;2208206;2208208;2208210;2208212;2208214;2208216;2208218;2208220;2208222;2208224;2208226;2208228;2208230;2208232;2208234;5491717 A008L12;D9S121;D9S986E;ECD01481;ECD01680;ECD02541;ECD03081;ECD04319;ECD04458;ECD04832;ECD05953;ECD06139;ECD06745;ECD07354;ECD07810;ECD09903;ECD11584;ECD12695;ECD13398;ECD14969;ECD16668;ECD19293;ECD19467;ECD22544;ECD22824;ECD23807;ECD23926;REN36370;REN36371;REN36372;REN36373;REN36374;REN36375;REN36376;REN36377;REN36378;REN36379;REN36380;REN36381;REN36382;REN36383;REN36384;REN36385;REN36386;REN36387;REN36388;REN36389;REN36390;REN36391;REN36392;REN36393;REN36394;REN36395;REN36396;REN36397;REN36398;REN36399;REN36400;REN36401;REN36402;REN36403;REN36404;REN36405;REN36406;REN36407;REN36408;REN36409;REN36410;REN36411;REN36412;REN36413;REN36414;REN36415;REN36416;REN36417;REN36418;REN36419;REN36420;REN36421;REN36422;REN36423;REN36424;REN36425;REN36426;REN36427;REN36428;REN36429;REN36430;REN36431;REN36432;REN36433;REN36434;REN36435;REN36436;REN36437;REN36438;REN36439;REN36440;REN36441;REN36442;REN36443;REN36444;REN36445;REN36446;REN36447;REN36448;REN36449;REN36450;REN36451;REN36452;REN36453;REN36454;REN36455;REN36456;REN36457;REN36458;REN36459;REN36460;REN36461;REN36462;REN36463;REN36464;REN36465;REN36466;REN36467;REN36468;REN36469;REN36470;REN36471;REN36472;REN36473;REN36474;REN36475;REN36476;REN36477;REN36478;RH125103;stSG628145;stSG628146;stSG628147;stSG628149;stSG628150;stSG628151;stSG628152;stSG628153;stSG628155;stSG628156;stSG628157;stSG628158;stSG628159;stSG628160;stSG628161;stSG628162;stSG628163;stSG628164;stSG628165;stSG628166;stSG628167;stSG628168;stSG628169;stSG628170;stSG628171;stSG628172 C9orf54;FLJ00199;FLJ14596 OTTHUMP00000022323;hypothetical protein LOC84895;protein FAM73B protein-coding ENSG00000148343 23621 12965 PREDICTED 1345013 FAM7A4 family with sequence similarity 7, member A4 89836 15778 1347848 FAM7A5 family with sequence similarity 7, member A5 89835 15779 1353114 FAM7B1 family with sequence similarity 7, member B1 89834 15780 1354321 FAM78A family with sequence similarity 78, member A 9 9 9 q34 104672525 104690968 - 133123286 133141727 - 134133465 134151906 - 737633;6480464 12477932 15489334;15164053;14702039;11214971;21890473 286336 Q5JUQ0;Q5JUQ1;Q5JUQ2;Q8N2W3 ABBA01012083;ABBA01012084;AK024434;AK095423;AL157938;AMYH01021778;BC029924;BC037559;BC049388;CH471090;NM_033387 AAH29924;AAH49388;AAI52843;AAI56766;BAB15724;EAW87964;EAW87965;NP_203745;Q5JUQ0 Hs.143878;Hs.704076 1650688;2157309;5022578 D1S1423;D9S2042;RH41948 C9orf59;FLJ00024;RP11-544A12.6 OTTHUMP00000022395;chromosome 9 open reading frame 59;hypothetical protein LOC286336;protein FAM78A protein-coding ENSG00000126882 25465 12968 VALIDATED 2303471 FAM74A1 family with sequence similarity 74, member A1 9 9 p13.1 39890200 39930140 + 39900200 39907240 + 15489334;15164053;12477932 401507 M0R2U5;Q5RGS3 BC118602;BX664726;NR_026803 CAI17098;Q5RGS3 Hs.553802 miscrna 32029 17394 PREDICTED 2303470 FAM74A4 family with sequence similarity 74, member A4 9 9 q12 65227093 65234206 - 65487273 65494386 - 15489334;15164053;14702039;12477932 401508 Q5TZK3 AK127145;AMYH01020903;BC121813;BX005040;NR_026802 BAC86850;Q5TZK3 Hs.741141 FLJ45202 miscrna ENSG00000229746 32032 16982 PREDICTED 7245901 FAM83A-AS1 FAM83A antisense RNA 1 100131726 ABBA01037868;AC068228;AMYH01019003;AY211906;AY211907;AY211908;AY225521;NR_024479 AAP57214;AAP59410;AAP59411;AAP59412 Hs.660862 HCCC11;HCCC11_v1;HCCC11_v2 miscrna ENSG00000204949 48658 VALIDATED 1604511 FAM76A family with sequence similarity 76, member A 1 1 1 p35.3 26448136 26485071 + 27925077 27960702 + 28052490 28089426 + 6480464 16710414;15489334;14702039;12477932;17207965;19322201 199870 B1AJQ5;E9PQL1;Q8TAV0 ABBA01034985;ABBA01034986;ABBA01034987;ABBA01034988;ABBA01034989;AK098318;AK123940;AK290120;AK301672;AK310165;AL020997;AL035307;AL035309;AMYH01000424;BC025768;CH471059;NM_001143912;NM_001143913;NM_001143914;NM_001143915;NM_152660 AAH25768;ADQ32458;BAC05285;BAF82809;BAG63145;CAA22912;CAA22914;EAX07740;EAX07741;EAX07742;EAX07743;NP_001137384;NP_001137385;NP_001137386;NP_001137387;NP_689873;Q8TAV0 Hs.469359 1341596;1660914;1690928;2166253 D14S779;RH47146;RH66767;RH93638 FLJ41946;MGC34648;RP3-426I6.1 OTTHUMP00000003840;OTTHUMP00000003841;OTTHUMP00000003842;OTTHUMP00000003843;OTTHUMP00000235222;OTTHUMP00000235223;hypothetical protein LOC199870;protein FAM76A protein-coding ENSG00000009780 28530 14583 VALIDATED 1604229 FAM78B family with sequence similarity 78, member B 1 1 1 q24.1 139144622 139241325 - 164305880 164402830 - 166039256 166135958 - 6480464 19064610;16710414;15489334;12477932;19536175 149297 H7C075;H7C3M6;Q5VT40 ABBA01047267;ABBA01047268;AK299946;AL596087;AL626787;AMYH01001473;AMYH01001474;BC114214;BF510138;CH471067;NM_001017961 AAI14215;BAH13179;EAW90771;NP_001017961;Q5VT40 Hs.133029 1341600;2129432 AL009923;D1S2681 MGC131653 OTTHUMP00000032614;OTTHUMP00000209230;OTTHUMP00000209231;OTTHUMP00000209232;hypothetical protein LOC149297;protein FAM78B protein-coding ENSG00000188859 13495 18557 VALIDATED 1605286 FAM76B family with sequence similarity 76, member B 11 11 11 q21 92800487 92821336 - 95141754 95162602 - 95502106 95522954 - 6480464 14702039;17203973;17081983;16381901;16189514;15489336;15489334;15302935;12477932;11230166;11076863;19322201 143684 B2R9C2;F5GX09;F5H215;F5H5F4;F5H6T9;Q5HYJ3 ABBA01040009;AK021591;AK313727;AMYH01003971;AP001877;AW118814;BC026013;BC028727;BG718983;BX647586;CH471065;NM_144664 AAH26013;AAH28727;ABM82140;ABM85323;BAG36469;CAI46088;CAL37784;EAW66962;EAW66963;EAW66964;NP_653265;Q5HYJ3 Hs.288304 1679083;1700180;1846841 RH103704;RH93242;SGC30630 MGC33371 OTTHUMP00000236682;OTTHUMP00000236683;OTTHUMP00000236684;OTTHUMP00000236685;hypothetical protein LOC143684;protein FAM76B protein-coding ENSG00000077458 28492 11333 VALIDATED 1344332 FAM83C-AS1 FAM83C antisense RNA 1 140846 AL121753 C20orf120;NCRNA00154;dJ614O4.3 APPROVED miscrna 16113 1602845 FAM83A family with sequence similarity 83, member A 8 8 8 q24.13 120383791 120411357 + 124263933 124291499 + 124194752 124222318 + 6480464 16354590;14702039;12477932;18514066;17207965;17192395;22886303 84985 Q86UY5 ABBA01037867;ABBA01037868;ABBA01037869;AC068228;AF497803;AK095301;AK098407;AMYH01019003;BC007828;BC052300;BQ927762;CH471060;DQ280322;DQ280323;NM_032899;NM_207006 AAH07828;AAH52300;AAQ07260;ABB91800;ABB91801;ADQ32933;BAC05299;EAW92022;EAW92023;EAW92024;NP_116288;NP_996889;Q86UY5 Hs.379821 1765723;2142793;2163542;2218312;5015619;5037554 BJ-TSA-9_4449;D11S3114;D8S1160;D8S2282;RH65348;SHGC-149155 BJ-TSA-9;MGC14128 OTTHUMP00000228379;OTTHUMP00000228381;hypothetical protein LOC84985;protein FAM83A;tumor antigen BJ-TSA-9;tumor-specific gene expressed in prostate protein protein-coding ENSG00000147689 28210 17489 VALIDATED 1603268 FAM81A family with sequence similarity 81, member A 15 15 15 q22.2 36617962 36703328 + 57517664 57603043 + 59730372 59815751 + 6480464 15489334;12477932;22589738;21890473 145773 H0YKL6;H0YKQ6;H0YKW2;H0YLQ5;H0YMF2;H0YMW3;H0YMX7;H0YN47;H0YN94;Q8TBF8 ABBA01038961;ABBA01038962;AC091748;AC092754;AK299220;AK307975;AL110257;AMYH01006684;AMYH01006685;BC022537;CH471082;NM_152450 AAH22537;BAG61256;EAW77569;EAW77570;NP_689663;Q8TBF8 Hs.531168 1650839;1669369;1717899;1769555;2116905;7184679;7186986 D15S1308;D15S138E;RH122823;RH44776;WI-20454 MGC26690 hypothetical protein LOC145773;protein FAM81A protein-coding ENSG00000157470 28379 14508 VALIDATED 1603176 FAM81B family with sequence similarity 81, member B 5 5 5 q15 90605428 90664550 + 94752804 94811900 + 94727048 94786144 + 6480464 15489334;14702039;12477932;20379614 153643 H0Y8I8;H0Y942;H0Y947;H0Y979;H0Y9A7;H0Y9S5;Q96LP2 ABBA01069252;AC008573;AC090071;AK058062;AK310245;AMYH01015490;BC034772;BM560335;CH471084;NM_152548 AAH34772;ADZ15374;BAB71646;EAW96035;EAW96036;NP_689761;Q96LP2 Hs.276287 FLJ25333 OTTHUMP00000222798;hypothetical protein LOC153643;protein FAM81B protein-coding ENSG00000153347 26335 08686 VALIDATED 1323733 FAM83B family with sequence similarity 83, member B 6 6 6 p12.1 56373131 56468364 + 54819528 54914779 + 54711569 54806820 + 6480464 14702039;12477932;20379614;20360068;22886302 222584 Q5T0W9 ABBA01050510;ABBA01050511;AK024927;AK055204;AL049555;AL512363;AMYH01016362;BC101628;BC112275;CH471081;NM_001010872 AAI01629;AAI12276;BAB70873;EAX04439;NP_001010872;Q5T0W9 Hs.152423;Hs.657974 1646069;1694220;1771693;5020242 AFMa124wh1;AL035202;D11S2612;G09693 C6orf143;FLJ30642;MGC126677;MGC138480 OTTHUMP00000016645;chromosome 6 open reading frame 143;hypothetical protein LOC222584;protein FAM83B protein-coding ENSG00000168143 21357 10158 VALIDATED 7246453 FAM83H-AS1 FAM83H antisense RNA 1 (head to head) 11181995;14702039 100128338 ABBA01005242;AC105219;AK091211;AK124079;AK125852;AMYH01019114;CH471162;NR_033849 BAC86320;EAW82201 Hs.493171 5016478;5016781;5020946;5024272;5037552 D2S1254;D8S2279;GDB:434012;L17971;SHGC-67307 miscrna ENSG00000203499 48720 VALIDATED 1606549 FAM83E family with sequence similarity 83, member E 19 19 19 q13.33 45968730 45981559 - 53795669 53808506 - 49103857 49116694 - 6480464 15851553;12477932;19913121;20628086;21926972 54854 M0QZ37;Q2M2I3 ABBA01032981;ABBA01032982;AC008403;AC022154;AK000207;AMYH01009904;BC111970;BC111972;CD722642;CH471177;NM_017708 AAI11971;AAI11973;BAA91009;EAW52356;NP_060178;Q2M2I3 Hs.165803 1764263;5022200 L18426;SHGC-147884 FLJ20200;MGC138175;MGC138177 hypothetical protein LOC54854;protein FAM83E protein-coding ENSG00000105523 25972 07883 VALIDATED 1602306 FAM83F family with sequence similarity 83, member F 22 22 22 q13.1 24192998 24228085 + 38720899 38755989 + 40390953 40426043 + 6480464 12477932;19834535;17342744;21906983;19322201 113828 Q8NEG4 ABBA01055587;ABBA01055588;AMYH01012785;BC011204;BC031099;CH471095;NM_138435;Z82206;Z83847 AAH11204;AAH31099;EAW60365;EAW60366;NP_612444;Q8NEG4 Hs.197680 1652588;2118976;2165556;2185441;2186455 AL021673;D22S1197;D22S299;D22S302;D22S630 OTTHUMP00000198255;hypothetical protein LOC113828;protein FAM83F protein-coding ENSG00000133477 25148 11228 VALIDATED 1344185 FAM83C family with sequence similarity 83, member C 20 20 20 q11.22 30622139 30628832 - 33336948 33343639 - 33873534 33880225 - 14702039;12477932;11780052;16344560;22505724 128876 Q9BQN1 ABBA01019165;AK091116;AK091138;AL121753;AMYH01011874;BC113483;CH471077;DA433905;NM_178468 AAI13484;BAC03594;EAW76218;NP_848563;Q9BQN1 Hs.592149 1801560;1802586;1804266;1811128;1815594;1820328;1828422;1831404;1841960;1844670;1972468;1972470;1972472;1972474;1972476;1972478;1972480;1972482;1972484;1972486;1972488;1972490;1972492;1972494;1972496;1972498;1972500;1972502;1972504;1972506;1972508;1972510;1972512;1972514;1972516;1972518;1972520;1972522;1972524;1972526;1972528;1972530;1972532;1972534;1972536;1972538;1972540;1972542;1972544;1972546;1972548;2215044;2215046;2215048;2215050;2215052;2215054;2215056 ECD01658;ECD02180;ECD03057;ECD06562;ECD08834;ECD11239;ECD15337;ECD16838;ECD22183;ECD23549;REN57119;REN57120;REN57121;REN57122;REN57123;REN57124;REN57125;REN57126;REN57127;REN57128;REN57129;REN57130;REN57131;REN57132;REN57133;REN57134;REN57135;REN57136;REN57137;REN57138;REN57139;REN57140;REN57141;REN57142;REN57143;REN57144;REN57145;REN57146;REN57147;REN57148;REN57149;REN57150;REN57151;REN57152;REN57153;REN57154;REN57155;REN57156;REN57157;REN57158;REN57159;stSG636507;stSG636508;stSG636509;stSG636510;stSG636511;stSG636512;stSG636513 C20orf128;MGC142043;dJ614O4.7 OTTHUMP00000030740;chromosome 20 open reading frame 128;hypothetical protein LOC128876;protein FAM83C protein-coding ENSG00000125998 16121 12743 VALIDATED 1626194 FAM85A family with sequence similarity 85, member A 8 p23.1 12052228 12056250 + 619423 AC145124;XR_110590 Hs.117688 family with sequence similarity 85, member A miscrna 17606 MODEL 2300139 FAM85B family with sequence similarity 85, member B p23.1 619431 CD106111 Hs.656893 family with sequence similarity 85, member B protein-coding 32160 1603342 FAM83H family with sequence similarity 83, member H The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010] 8 8 q24.3 144878091 144887902 - 144806103 144815914 - 6480464;7240710 19407157;19220331;18484629;18252228;15146197;12477932;8889548;21145461;19825039;19828885;20160442;21118793;16751776;22414746;20360068;21702852;21906983;19322201;21963094;23355523;19875381;22797925 286077 J3KPS2;Q6ZRV2;Q71RB4 ABBA01005242;AC105219;AF370424;AK127960;AMYH01019112;AMYH01019113;BC007264;BC033256;BE856638;BM982083;CN272849;HM481257;NG_016652;NM_198488 AAH07264;AAH33256;AAQ15260;AEB00836;BAC87207;NP_940890;Q6ZRV2 Hs.67776;Hs.713170 2122024;5037552 D8S2279;RH46910 AI3;FLJ46072 FAM83H variant 1;OTTHUMP00000164909;protein FAM83H APPROVED protein-coding ENSG00000180921 24797 13521 130900;611927 REVIEWED 1347604 FAM83D family with sequence similarity 83, member D 20 20 20 q11.22-q12 34265630 34292378 + 36988369 37015117 + 37554955 37581703 + 6480464 18485706;16565220;15489334;14702039;12477932;11780052;20360068;21900206;21987572;21139048;21890473;21906983;22797925 81610 Q9BVM8 ABBA01052534;AK055793;AK095660;AK303860;AL023803;AMYH01011907;BC001068;BC006553;BC053683;BC063661;BC080188;CH471077;CS300536;NM_030919 AAH01068;AAH06553;AAH53683;AAH63661;AAH80188;BAB71016;BAG64799;CAK32200;EAW76008;NP_112181;Q9H4H8 Hs.726442 2141488;2167655 RH47584;Z94531 C20orf129;CHICA;FLJ38341;dJ616B8.3 OTTHUMP00000030981;mitotic spindle protein CHICA;protein FAM83D;spindle protein CHICA protein-coding ENSG00000101447 16122 12744 VALIDATED 1626585 FAM86B2 family with sequence similarity 86, member B2 8 8 p23.1 12325843 12338262 - 12283123 12293852 - 19718026;21906983 653333 E9PPT9;E9PQV7;F6QN85;H7BXI9;P0C5J1 ABBA01026870;AC087203;AK291001;AK297741;AK298940;AK309984;AMYH01018523;NM_001137610;XM_003960424 BAF83690;BAG60091;BAG61040;NP_001131082;P0C5J1;XP_003960473 Hs.458413 2155238 D8S1993 OTTHUMP00000229846;hypothetical protein LOC653333;protein FAM86B2 protein-coding ENSG00000145002 32222 PREDICTED 1606850 FAM83G family with sequence similarity 83, member G 17 17 17 p11.2 20788727 20822409 - 18815106 18848785 - 18874381 18908060 - 6480464 17353931;16964243;16625196;15489334;15146197;14702039;12477932;8889548;19531213;18729074 644815 A6ND36;K7EKG0 ABBA01013330;AC090286;AK123558;AMYH01008187;AMYH01008188;BC105988;BX365956;BX402942;CF138357;CN370352;CR735308;CX165458;DN831927;DY655105;NM_001039999 A6ND36;AAI05989;BAC85645;NP_001035088 Hs.710727 1729861 D17S737 FLJ41564 OTTHUMP00000161200;Protein FAM83G;hypothetical protein LOC644815 protein-coding ENSG00000188522 32554 VALIDATED 1606136 FAM84B family with sequence similarity 84, member B 8 8 8 q24.21 123744691 123750470 - 127633869 127639648 - 127564683 127570711 - 6480464 12477722;16490593;15489334;12477932;17207965;17401363;17401366;17529967;17618283;17618284;18372901;19549893;20062064;20158306;19322201;23251661;23326517 157638 Q96KN1 ABBA01037930;AC084116;AJ417849;AK074285;AK292824;AMYH01019011;BC033717;BC052957;CH471060;NM_174911 AAH52957;ADQ32502;BAF85513;CAD10629;EAW92090;NP_777571;Q96KN1 Hs.741352 1697188;1699748;1769922;1775915 RH102084;RH103480;RH44809;RH78068 BCMP101;NSE2 OTTHUMP00000228215;breast cancer membrane protein 101;breast cancer membrane-associated protein 101;family with sequence similarity 84, member B;neurological/sensory 2;protein FAM84B 2292709 PRSTS2_H protein-coding ENSG00000168672 24166 11403 609483 VALIDATED 1602648 FAM84A family with sequence similarity 84, member A 2 2 2 p24.3 14690800 14698160 + 14690307 14693898 + 14772810 14780170 + 6480464 16820875;15815621;15489334;14702039;12477932;18667531;22589738 151354 Q96KN4 ABBA01015678;AC011897;AF370404;AJ417080;AK092654;AK314463;AMYH01010129;BC026346;BC029933;BC052284;BI547868;BX113099;CH471053;NM_145175 AAH26346;AAH52284;AAQ15240;AAY15041;ABM84299;ABM84573;ABM87694;ABM87854;BAC03938;BAG37071;CAD10038;EAX00905;NP_660158;Q96KN4 Hs.260855 1652375;1688360;1770530;2149056 D2S1661E;RH78874;RH99165;SHGC-36750 FLJ35392;NSE1;PP11517 OTTHUMP00000147636;OTTHUMP00000200419;neurologic sensory protein 1;neurological/sensory 1;protein FAM84A protein-coding ENSG00000162981 20743 17647 611234 VALIDATED 1605607 FAM86B1 family with sequence similarity 86, member B1 8 8 p23.1 12077022 12089033 - 12039613 12051624 - 6480464 16344560;14702039;12477932;21906983;23349634;85002 85002 E9PLC7;E9PLW5;E9PM45;E9PN63;E9PNH4;E9PRJ7;F6QN85;F6TTG8;H0YD24;H0YDM8;Q4KMP3;Q8N7N1;R4GN25;R4GNF6 AC145124;AK098138;AK308439;AK308513;AL529666;AMYH01018498;AMYH01018499;AMYH01018500;BC048297;BC062615;BC085016;BC093808;BC093810;BC098427;BE729618;DA552021;NM_001083537;NR_003494 AAH98427;BAC05241;NP_001077006;Q8N7N1 Hs.675799 1683184;2155238 D8S1993;RH92175 MGC104828;MGC16279 OTTHUMP00000229299;OTTHUMP00000229300;OTTHUMP00000229301;OTTHUMP00000229307;OTTHUMP00000229308;hypothetical protein LOC85002;protein FAM86B1 protein-coding ENSG00000186523 28268 17515 VALIDATED 5134932 FAM86FP family with sequence similarity 86, member F, pseudogene 12 12 12 p13.31 9949938 9961836 - 8274592 8286842 - 8383645 8395542 - 653113 ABBA01012239;AC092111;AMYH01004226;BX282364;NR_024254 Hs.661749 1683184 RH92175 pseudo 42357 PROVISIONAL 5134949 FAM86GP family with sequence similarity 86, member G, pseudogene 11 11 11 p15.4 3419079 3432763 - 3387842 3406283 - 3429470 3443771 - 387745 ABBA01032063;ABBA01032064;AC123788;AC127526;AMYH01003346;NG_008770 pseudo 42358 INFERRED 1603258 FAM86A family with sequence similarity 86, member A 16 16 16 p13.3 5343693 5357187 - 5075236 5087782 - 5134301 5147789 - 6480464 23349634;16189514;15489334;12477932;17207965;21906983;22589738;21963094 196483 K7EIJ3;K7EQE4;K7ES84;Q96G04 AA454579;ABBA01026798;ABBA01026799;ABBA01026800;AC026458;AMYH01007111;AY037162;BC010084;BF314717;BG024981;BG683728;BQ215173;BQ921410;CA495371;CH471112;NM_201400;NM_201598 AAH10084;AAK67640;ADQ32295;EAW85229;EAW85230;EAW85231;EAW85232;EAW85233;EAW85234;EAW85235;EAW85236;EAW85237;EAW85238;EAW85239;NP_958802;NP_963892;Q96G04 Hs.406461;Hs.592086 1656559 D8S1640 MGC19636;SB153 OTTHUMP00000159920;OTTHUMP00000159921;hypothetical protein LOC196483;protein FAM86A protein-coding ENSG00000118894 32221 18018 615263 VALIDATED 5134886 FAM86HP family with sequence similarity 86, member H, pseudogene 3 3 3 q22.1 128245024 128258669 - 131300421 131313005 - 129816625 129830276 - 14702039;16344560 729375 ABBA01059209;AC083906;AC130888;AK124448;AMYH01013485;DA296336;NR_024252 Hs.123633 pseudo 42359 PROVISIONAL 6766389 FAM86KP family with sequence similarity 86, member K, pseudogene 4 p16.1 9155022 9167181 + 100287013 AC108519 pseudo 44098 MODEL 6766682 FAM86LP family with sequence similarity 86, member L, pseudogene 7 p22.1 6970611 6979244 - 9847074 641924 ABBA01056512;AC079804;AMYH01017056;NG_006619 pseudo 44099 INFERRED 6907750 FAM86B3P family with sequence similarity 86, member B3, pseudogene 8 p23.1 8086092 8102387 + 11181995;12477932;21906983 286042 ABBA01026926;AC068020;AF217970;AK304567;AK307256;AMYH01018459;BC035792;CH471157;NR_024361;NR_024362;NR_024363 AAG17213;BAG65358;EAW65560 Hs.656318 5017088;5024193;5038404 ECD12792;REN80957;STS-W81598 pseudo ENSG00000173295 44371 PROVISIONAL 6766586 FAM86MP family with sequence similarity 86, member M, pseudogene 4 p16.1 9694721 9705218 + 9847074 644517 ABBA01032504;AC105916;AMYH01013991;NG_008782 1656559;1661127;1850624 D4S520;D8S1640;G34285 pseudo 44100 INFERRED 1602694 FAM86C1 family with sequence similarity 86, member C1 11 11 11 q13.4 68800691 68814414 + 71176205 71189928 + 71498557 71512280 + 6480464 14702039;16189514;12477932;21906983;23349634 55199 B4DDJ9;D6R9N2;Q9NVL1 ABBA01017546;ABBA01017547;AK001523;AK130709;AK293221;AK311428;AK311518;AK311675;AK315454;AMYH01003789;AP002495;BC032519;BQ921333;CH471076;DC312827;NM_001099653;NM_018172;NM_152563 AAH32519;ADZ15696;BAA91739;BAG37841;BAG56760;EAW74795;EAW74796;EAW74797;EAW74798;EAW74799;EAW74800;EAW74801;EAW74802;NP_001093123;NP_060642;NP_689776;Q9NVL1 Hs.567527 FAM86C;FLJ10661;FLJ27199;MGC45068 OTTHUMP00000218467;OTTHUMP00000218468;OTTHUMP00000236010;OTTHUMP00000238419;family with sequence similarity 86, member C;hypothetical protein LOC55199;protein FAM86C1 APPROVED protein-coding ENSG00000158483 25561 13337 VALIDATED 1606075 FAM87B family with sequence similarity 87, member B 1 1 p36.33 317776 318394 - 752751 755195 + 14702039 400728 Q8N852 ABBA01016000;AK097327;AL669831;AMYH01000099;CH471181;NR_103536;XR_108280;XR_112085;XR_171143 BAC04999;EAW51456;EAW51457;Q8N852 Hs.568078 1716687;5493657 RH121602;UniSTS:490132 FLJ40008 miscrna ENSG00000177757 32236 VALIDATED 5135127 FAM86C2P family with sequence similarity 86, member C2, pseudogene 11 11 11 q13.2 64892475 64906041 - 67315816 67329360 - 67559238 67572807 - 12477932;14702039;21906983;16641997 645332 A6NEL3 ABBA01024025;ABBA01024026;AK055771;AMYH01003749;AP003716;BC063712;BC110365;CH471076;NR_024249 A6NEL3;EAW74671 Hs.535094 1768459 SHGC-77297 FLJ31209 pseudo ENSG00000160172 42392 PROVISIONAL 6766471 FAM86JP family with sequence similarity 86, member J, pseudogene 3 q21.2 125635444 125648867 + 12477932;16341674;16344560 100125556 Q05BU3 ABBA01016401;ABBA01016402;AC092903;AMYH01013445;BC032772;BC041080;BM781991;DA599453;NR_024250;NR_024251 Q05BU3 Hs.553949 1768459 SHGC-77297 pseudo ENSG00000171084 44097 PROVISIONAL 5134911 FAM86EP family with sequence similarity 86, member E, pseudogene 4 4 4 p16.3 3841675 3855156 - 3994593 4008068 - 3943669 3957148 - 12477932;8889548;21906983 348926 AA421090;ABBA01008232;AC116562;AC143342;AC226119;AMYH01013898;BC044637;BM718734;BU742387;CN481473;NR_024253 Hs.591720 5118254 D16S2651 pseudo 28017 PROVISIONAL 3208149 FAM8A10P family with sequence similarity 8, member A10 pseudogene Y Y q11.223 23281543 23284789 + 24872155 24875401 + 12815422;9847074 386728 AC010080;NG_004755 1697126;1790139 RH102047;sY1192 pseudo 23871 VALIDATED 1343456 FAM8A2P family with sequence similarity 8, member A2 pseudogene 11 11 11 q12.1 53435396 53440779 - 55855396 55856540 - 56095320 56100703 - 11707071 728097 ABBA01021463;AC022882;AF315800;AMYH01003648;NG_009310 pseudo 16373 INFERRED 1348074 FAM8A4P family with sequence similarity 8, member A4 pseudogene 11707071 114180 AC002992;AF315801;NG_023041 1746053;1781340;2190303;5116184 AZFa-prox2;G49202;G64723;sY2297 pseudo 16375 1350392 FAM8A3P family with sequence similarity 8, member A3 pseudogene 2 2 2 q23.2 143788839 143795297 + 149885010 149886219 + 150174907 150181365 + 11707071 100129594 ABBA01004742;AC007394;AF315797;AMYH01011161;NG_009311 pseudo 16374 INFERRED 1351379 FAM8A5P family with sequence similarity 8, member A5 pseudogene 6 28297976 28302542 - 11707071 114181 ABBA01028477;AF315798;BX296568;CR753309;CR753841;CR933540;NG_001298 pseudo 16376 REVIEWED 1343399 FAM8A7P family with sequence similarity 8, member A7 pseudogene Y Y Y p11.2 1174507 1175848 + 8105767 8107308 - 8045867 8047208 - 12815422 386725 ABBA01060199;AC016749;NG_003134 pseudo 23868 INFERRED 1350260 FAM8A8P family with sequence similarity 8, member A8 pseudogene Y Y Y q11.21 1419180 1421056 + 12952216 12954092 + 14442208 14444084 + 12815422 386726 AC002992;NG_003135 pseudo 23869 1342521 FAM8A6P family with sequence similarity 8, member A6 pseudogene 6 6 6 135662392 135667004 - 134963642 134968254 - 134924280 134925377 - 11707071 114182 ABBA01025854;AF315799;AL078590;AMYH01016689;NG_001299 pseudo 16377 INFERRED 1602979 FAM87A family with sequence similarity 87, member A 8 8 p23.3 315931 318394 - 325931 333174 - 12477932 157693 P0C7U9 ABBA01007277;AC136777;BC037297;BC118644;NR_103537;XR_110087;XR_113099 P0C7U9 Hs.591390 1716687;5493657 RH121602;UniSTS:490132 miscrna 27233 VALIDATED 1344549 FAM8A9P family with sequence similarity 8, member A9 pseudogene Y Y Y q11.222 7478949 7480897 + 21181287 21183435 + 22772000 22773948 + 12815422;9847074 386727 ABBA01057457;AC007678;NG_003136 pseudo 23870 INFERRED 1602388 FAM90A10P family with sequence similarity 90, member A10, pseudogene FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7663909 7667482 + 7627106 7628835 + 6480464 17684299;18602769 441328 A6NDY2 AC084121;AMYH01018357;DC395395;NR_046351 A6NDY2 Hs.694406 FAM90A10 putative protein FAM90A10 APPROVED pseudo 32258 613047 VALIDATED 1605165 FAM90A11P family with sequence similarity 90, member A11, pseudogene 8 8 p23.1 7906722 7910283 - 7869304 7874534 - 17684299;18602769 441331 ABBA01001664;AC105233;NG_006010 FAM90A11 APPROVED pseudo 32259 INFERRED 1602732 FAM86DP family with sequence similarity 86, member D, pseudogene 3 3 3 p12.3 75418627 75432191 - 75552943 75566951 - 75470703 75484266 - 6480464 21906983;16641997;16344560;15489334;12477932 692099 ABBA01030984;AC139453;AMYH01013289;AMYH01013290;AMYH01013291;BC016686;BC043342;BC068011;BC068108;BC094682;DA753838;NR_024241 Hs.591652 FAM86D APPROVED pseudo ENSG00000244026 32659 VALIDATED 1605169 FAM90A13P family with sequence similarity 90, member A13, pseudogene FAM90A13 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7124702 7127712 + 7135632 7140864 + 17684299;18602769 441314 P0C7W8 AF228730;NG_032076 P0C7W8 FAM90A13 putative protein FAM90A13 APPROVED pseudo 32261 613049 INFERRED 1604127 FAM90A12P family with sequence similarity 90, member A12, pseudogene FAM90A12 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Jul 2010] 8 8 p23.1 7922568 7925578 - 7884596 7889827 - 16421571;17684299;18602769 645879 A8MX19 AC105233;NG_032086 A8MX19 FAM90A12 Putative protein FAM90A12;family with sequence similarity 90, member A12 APPROVED pseudo 32260 613048 INFERRED 1604443 FAM90A15P family with sequence similarity 90, member A15, pseudogene FAM90A15 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7101836 7104846 + 7112765 7117998 + 17684299;18602769 389630 P0C7V4 AF228730;NG_032075 P0C7V4 FAM90A15 family with sequence similarity 90, member A15;putative protein FAM90A15 APPROVED pseudo 32263 613051 INFERRED 1604669 FAM90A14P family with sequence similarity 90, member A14, pseudogene FAM90A14 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010] 8 8 p23.1 7602665 7613951 + 7571305 7576537 + 17684299;18602769 645651 P0C7W9 AC084121;AMYH01018327;AMYH01018328;NG_032081 P0C7W9 FAM90A14 putative protein FAM90A14 APPROVED pseudo 32262 613050 INFERRED 1605168 FAM90A16P family with sequence similarity 90, member A16, pseudogene 8 8 p23.1 7625671 7629243 + 7586599 7591833 + 17684299;18602769 441323 A6NEW6 AC084121;NG_011769 A6NEW6 FAM90A16 APPROVED pseudo 32264 INFERRED 1604856 FAM90A17P family with sequence similarity 90, member A17, pseudogene 8 8 p23.1 7640966 7644538 + 7601894 7607128 + 16421571;17684299;18602769 728746 A6NEW6 AC084121;AMYH01018319;NG_011770 A6NEW6 FAM90A17 APPROVED pseudo 32265 INFERRED 1605167 FAM90A18P family with sequence similarity 90, member A18, pseudogene FAM90A18 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7618023 7621595 + 7578951 7584185 + 17684299;18622769 441326 A6NE21 AC084121;NG_032082 A6NE21 FAM90A18;FAM90A19 putative protein FAM90A18/FAM90A19 APPROVED pseudo 32266 613052 INFERRED 1604855 FAM90A19P family with sequence similarity 90, member A19, pseudogene FAM90A19 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7648614 7652186 + 7609542 7614776 + 17684299;18602769 728753 A6NE21 AC084121;NG_032084 A6NE21 FAM90A18;FAM90A19 putative protein FAM90A18/FAM90A19 APPROVED pseudo 32267 613053 INFERRED 1605149 FAM90A21P family with sequence similarity 90, member A21, pseudogene 8 8 p23.1 7409185 7412392 - 7421310 7426541 - 17684299;18602769 619418 AC134684;AMYH01018428;NG_005998 APPROVED pseudo 32269 INFERRED 1605741 FAM90A20P family with sequence similarity 90, member A20, pseudogene FAM90A20 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7139946 7142956 + 7150876 7156106 + 16421571;17684299;18602769 728430 A6NIJ5 AF228730;AMYH01018523;NG_032078 A6NIJ5 FAM90A20 putative protein FAM90A20 APPROVED pseudo 32268 613054 INFERRED 1604860 FAM90A23P family with sequence similarity 90, member A23, pseudogene 8 8 p23.1 7424019 7427584 - 7436604 7441835 - 17684299;18602769 645572 A8MXZ1 AC134684;NG_006002 A8MXZ1 FAM90A23 APPROVED pseudo 32271 INFERRED 1605164 FAM90A24P family with sequence similarity 90, member A24, pseudogene 8 8 p23.1 7914363 7917929 - 7876948 7882180 - 17684299;18602769 441332 P0C7X0 ABBA01001664;AC105233;NG_006004 P0C7X0 FAM90A24 APPROVED pseudo 32272 INFERRED 1604441 FAM90A25P family with sequence similarity 90, member A25, pseudogene 8 8 p23.1 12316402 12322773 - 12272027 12278426 - 17684299;18602769 389633 ABBA01026872;AC087203;AL832996;NR_073395 CAH56347;Q658T7 Hs.650464 5095780 RH123756 APPROVED pseudo 32246 VALIDATED 1604861 FAM90A22P family with sequence similarity 90, member A22, pseudogene 8 8 p23.1 7416370 7419937 - 7428955 7434191 - 17684299;18602769 645558 A8MWA6 AC134684;NG_006001 A8MWA6 FAM90A22 APPROVED pseudo 32270 INFERRED 5688557 FAM90A27P family with sequence similarity 90, member A27, pseudogene 19 q13.42 53785543 53787602 + 15057824 646508 A6NNH2 ABBA01068217;AC092070;AMYH01009959;DN930351;NR_046365 Hs.574588 1331580 D19S589 pseudo ENSG00000189348 43617 VALIDATED 5688485 FAM90A26 family with sequence similarity 90, member A26 4 p16.1 9172114 9178456 + 100287045 D6RGX4 AC108519;NG_032089 FAM90A26P APPROVED pseudo 43746 INFERRED 5688567 FAM90A28P family with sequence similarity 90, member A28, pseudogene 19 q13.42 53802301 53805379 - 100128254 ABBA01068217;AC092070;AMYH01009959;NG_028700 1331580;1732747 D19S589;D19S727 pseudo 43747 INFERRED 1606041 FAM90A2P family with sequence similarity 90, member A2, pseudogene 8 8 p23.1 12067117 12070072 - 12030963 12034776 - 17684299;18602769 729689 Q658T7 AC130366;AC145124;AMYH01018498;CX762572;NR_046354 Hs.741074 APPROVED pseudo 32250 VALIDATED 1605170 FAM90A4P family with sequence similarity 90, member A4, pseudogene 8 8 p23.1 7117143 7120645 + 7128010 7133242 + 18602769;17684299 441313 AF228730;NG_006005 FAM90A4 APPROVED pseudo 32252 INFERRED 1602036 FAM90A3P family with sequence similarity 90, member A3, pseudogene FAM90A3 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7109458 7112468 + 7120388 7125620 + 17684299;18602769 389611 AF228730;NG_032074 FAM90A3 family with sequence similarity 90, member A3 APPROVED pseudo 32251 613042 INFERRED 1602392 FAM90A5P family with sequence similarity 90, member A5, pseudogene FAM90A5 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, May 2010] 8 8 p23.1 7132324 7135334 + 7143254 7148486 + 17684299;18602769 441315 A8MXJ8 AF228730;NG_032077 A8MXJ8 FAM90A5 putative protein FAM90A5 APPROVED pseudo 32253 613043 INFERRED 1604444 FAM90A6P family with sequence similarity 90, member A6, pseudogene 8 8 p23.1 7393430 7396993 - 7406015 7411245 - 17684299;18602769 389618 AC134684;NG_006009 APPROVED pseudo 32254 INFERRED 1602389 FAM90A9P family with sequence similarity 90, member A9, pseudogene FAM90A9 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7656262 7659834 + 7617190 7622424 + 17684299;18602769 441327 A6NNJ1 AC084121;NG_032085 A6NNJ1 FAM90A9 putative protein FAM90A9 APPROVED pseudo 32257 613046 INFERRED 1602390 FAM90A8P family with sequence similarity 90, member A8, pseudogene FAM90A8 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7633319 7636890 + 7594247 7599480 + 17684299;18602769 441324 A6NJQ4 AC084121;NG_032083 A6NJQ4 FAM90A8 putative protein FAM90A8 APPROVED pseudo 32256 613045 INFERRED 1602391 FAM90A7P family with sequence similarity 90, member A7, pseudogene FAM90A7 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009] 8 8 p23.1 7401070 7404644 - 7413660 7416626 - 6480464 17684299;18602769 441317 A6NKC0 AC134684;AK301810;NR_046343 A6NKC0;BAG63259 Hs.715411 FAM90A7 OTTHUMP00000196827;putative protein FAM90A7 APPROVED pseudo 32255 613044 VALIDATED 1642208 FAM91A3P family with sequence similarity 91, member A3 pseudogene 1 1 q21.2 147506155 147529926 + 149239530 149263301 + 729182 AC239798;AL356957;AMYH01001371;NG_007181 pseudo 32273 INFERRED 1602405 FAM89A family with sequence similarity 89, member A 1 1 1 q42.2 204421289 204422460 - 229221545 229242608 - 231154704 231175995 - 6480464 16710414;15489334;12477932 375061 Q96GI7 ABBA01033033;AL732414;AMYH01001816;AMYH01001817;BC009447;CD365446;NM_198552 AAH09447;NP_940954;Q96GI7 Hs.38516 1339374;1674037;1682159;1688524;1690360;2121372;7187033 Cda0fc06;D1S225;RH64743;RH64880;RH65312;SHGC-76520 C1orf153;MGC15887;RP11-423F24.2 OTTHUMP00000036071;family with sequence similarity 89, member A;protein FAM89A protein-coding ENSG00000182118 25057 11845 VALIDATED 1606565 FAM89B family with sequence similarity 89, member B 11 11 11 q13 62666209 62668103 + 65096396 65098245 + 65339820 65341669 + 6480464 17207965;15489334;12477932;11958456;10512749;9525630;9110174;8619474 23625 Q8N5H3 ABBA01024111;AF052151;AMYH01003721;AP001362;BC023991;BC032373;BE394215;BQ927525;DR001553;NM_001098784;NM_001098785;NM_152832 AAH23991;AAH32373;ADQ32093;NP_001092254;NP_001092255;NP_690045;Q8N5H3 Hs.731854 1686330;2109533;2168824 G33124;MTVR1_9385;RH80452 MTVR1 OTTHUMP00000233085;OTTHUMP00000233086;OTTHUMP00000233087;family with sequence similarity 89, member B;mammary tumor virus receptor homolog 1;protein FAM89B protein-coding ENSG00000176973 16708 10100 VALIDATED 1351875 FAM8A1 family with sequence similarity 8, member A1 6 6 6 p23 18838570 18849979 + 17708565 17719929 + 17600518 17611950 + 1580863;6480464 16344560;15489334;15144186;14574404;12477932;11707071;22119785;22645275 51439 B4DK49;Q9UBU6 ABBA01022221;AF086479;AF097026;AF097027;AK074301;AK296393;AK307681;AK312814;AL050128;AL138824;AMYH01016119;BC047881;BQ015864;CH471087;DA333190;NM_016255 AAF07849;AAF07850;AAH47881;BAG35672;BAG59061;EAW55382;EAW55383;NP_057339;Q9UBU6 Hs.95260 1697126 RH102047 AHCP;FLJ23721 Autosomal Highly Conserved Protein;OTTHUMP00000016068;family with sequence similarity 8, member A1;protein FAM8A1 protein-coding ENSG00000137414 16372 13316 VALIDATED 1605664 FAM90A1 family with sequence similarity 90, member A1 FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009] 12 12 12 p13.31 9940151 9946507 - 8265123 8271481 - 8373856 8380214 - 6480464 16344560;14702039;12477932;17684299;21832049 55138 F5H7S5;Q86YD7 ABBA01012239;AC092111;AK001270;AMYH01004226;BC042608;CH471116;DA088850;NM_018088 AAH42608;ADZ15619;BAA91593;EAW88629;EAW88630;NP_060558;Q86YD7 Hs.196086 5024133 G09358 FLJ10408 OTTHUMP00000239127;OTTHUMP00000239128;hypothetical protein LOC55138;protein FAM90A1 APPROVED protein-coding ENSG00000171847 25526 07672 613041 VALIDATED 1626255 FAM92A1P1 family with sequence similarity 92, member A1 pseudogene 1 15 15 15 q15.1 18223199 18224568 + 39233520 39244217 + 41455322 41456695 + 12477932;10737800 729073 ABBA01038423;AC022408;AMYH01006568;NG_011983 1708402 SHGC-83483 DKFZp564I0278;FAM92A2 APPROVED pseudo 32278 INFERRED 7242150 FAM95C family with sequence similarity 95, member C 14702039 100289137 ABBA01050379;AK097951;AL390726;AMYH01019367;NR_047651 Hs.732599 2162134 RH12064 miscrna 45272 VALIDATED 1602947 FAM92A1P2 family with sequence similarity 92, member A1 pseudogene 2 4 4 4 q35.1 181292826 181295279 + 184195812 184198266 + 183958818 183961272 + 12477932 403315 ABBA01070496;AC019193;AMYH01014760;BC022019;BC047622;BC059396;BC094692;NR_003612 Hs.652187 5037552 D8S2279 FAM92A3;MGC102964;MGC71735 APPROVED pseudo ENSG00000230219 32287 VALIDATED 6482173 FAM96AP2 family with sequence similarity 96, member A pseudogene 2 1 q42.13 228302691 228303170 - 391174 ABBA01005830;AL136379;AMYH01001791;NG_005999 pseudo 43862 INFERRED 1604747 FAM92A1 family with sequence similarity 92, member A1 8 8 8 q22.1 90898882 90926735 + 94781949 94809850 + 94712773 94740674 + 6480464 19059705;17646714;14702039;12477932;21906983;22832960 137392 A1XBS5;E5RFH7;E5RFS7;E5RGD0;E5RGE3;E5RGP4;E5RHA4;E5RHK0;E5RID3;F8W7P5;H0YC32 ABBA01037438;AC010834;AC120053;AK096298;AMYH01018883;BC014598;BC108707;CR627475;DQ327715;DQ327716;NM_145269 A1XBS5;AAH14598;AAI08708;ABC55436;ABC55437;BAC04753;CAH10675;NP_660312 Hs.125038 1658549;1698054;1699214;2175141 RH102558;RH103188;RH68048;RH78498 FLJ38979 OTTHUMP00000226239;OTTHUMP00000226240;OTTHUMP00000226242;OTTHUMP00000226243;hypothetical protein LOC137392;protein FAM92A1 protein-coding ENSG00000188343 30452 14061 PREDICTED 2293293 FAM93B family with sequence similarity 93, member B p23.1 12477932 619342 BC030685 Hs.621220 family with sequence similarity 93, member B protein-coding 32289 1603858 FAM92B family with sequence similarity 92, member B 16 16 16 q24.1 69434172 69448321 - 83689466 83703615 - 85131965 85146114 - 18580884;12477932;19262523;21472827 339145 Q6ZTR7 ABBA01016889;AC026469;AK126284;AMYH01007872;BC093665;BC111944;CH471114;NM_198491 AAH93665;AAI11945;BAC86515;EAW95458;EAW95459;NP_940893;Q6ZTR7 Hs.125713 FLJ44299;MGC138149 hypothetical protein LOC339145;protein FAM92B protein-coding ENSG00000153789 24781 13488 PREDICTED 1605857 FAM91A1 family with sequence similarity 91, member A1 8 8 8 q24.13 120968947 121015229 + 124850063 124896873 + 124780882 124827692 + 6480464 17081983;16421571;15302935;14702039;12477932;19734545;20686608;21139048;21890473;21906983 157769 E7ER68;G3V120;H0YBR6;H0YC80;Q658Y4 ABBA01037884;ABBA01037885;AC011134;AK074370;AK300603;AL832830;AL832999;AMYH01019005;BC030520;BC144630;CH471060;DQ228141;NM_144963 AAH30520;AAI67793;ABB17070;BAB85063;BAG62300;CAH56231;CAH56297;EAW92049;EAW92050;EAW92051;EAW92052;NP_659400;Q658Y4 Hs.459174 1657734;1661535;1680785;1683870 D8S1379E;RH45611;RH94314;SHGC-53185 DKFZp666B104;FLJ23790 OTTHUMP00000163978;OTTHUMP00000228242;hypothetical protein LOC157769;protein FAM91A1;skeletal muscle cells re-entry induced protein-coding ENSG00000176853 26306 08676 VALIDATED 2303853 FAM99A family with sequence similarity 99, member A (non-protein coding) 11 11 11 p15.5 1725158 1726584 + 1643828 1644347 + 1686829 1689086 + 387742 Q6AI09 ABBA01012152;ABBA01012153;ABBA01012154;AK124823;AMYH01003313;AMYH01003314;AP006285;CR627417;NR_026643 BAC85960;CAH10505 Hs.567908 2155360 RH36337 DKFZp781M09150;FLJ42833 APPROVED miscrna ENSG00000205866 32368 18440 PREDICTED 2301772 FAM99B family with sequence similarity 99, member B (non-protein coding) 11 11 11 p15.5 1743115 1744784 - 1661713 1662081 - 1704500 1706859 - 100132464 ABBA01012155;AMYH01003314;AP006285;NR_026642 Hs.117797 2169447 RH44893 DKFZp781M09150 APPROVED miscrna ENSG00000205865 32369 PREDICTED 2303479 FAM95B1 family with sequence similarity 95, member B1 9 9 p12 42457452 42458182 + 42468589 42474238 + 6480464 14702039;12477932;16751776 100133036 AK094938;AK125850;AL833349;BC064148;BX664727;DQ574527;NR_026759 Hs.584289 5021872 sY3084 DKFZp686P0734;FLJ37619 miscrna ENSG00000223839 32318 PREDICTED 1603675 FAM98A family with sequence similarity 98, member A 2 2 2 p22.3 33647433 33663066 - 33662233 33677866 - 33808729 33824362 - 6480464 21145461;14702039;12477932;17000644;16196087;21139048;21890473;18781797;20639865;21628590;22190034 25940 B4DT23;C9J3G8;E9PH82;I6L9E8;Q8NCA5 ABBA01074909;AC017050;AK027432;AK074867;AK096187;AK300023;AK302233;AL049943;AMYH01010241;BC020907;BC038581;BC060860;BC136768;BC136770;CH471053;CQ783714;CR936766;NM_015475 AAH20907;AAH60860;AAI36769;AAI36771;BAC11255;BAG53226;BAG61835;BAG63587;CAB43217;CAF86825;EAX00431;NP_056290;Q8NCA5 Hs.468140 1695916;2183245 SHGC-33436;SHGC-78874 DKFZp564F0522;DKFZp686O03192 OTTHUMP00000201302;OTTHUMP00000201327;hypothetical protein LOC25940;protein FAM98A protein-coding ENSG00000119812 24520 16808 VALIDATED 1604231 FAM98C family with sequence similarity 98, member C 19 19 19 q13.2 35696012 35701965 + 43585615 43591568 + 38893775 38899728 + 6480464 15489334;12477932;21139048 147965 K7EQL1;K7EQT7;K7ES49;Q17RN3 ABBA01040680;AC005789;AK128745;AMYH01009780;BC034383;BC036482;BC080606;BC100033;BC117258;BC143830;BC171747;BI871449;BM561971;BX641942;CH471126;NM_174905 AAH80606;AAI17259;AAI43831;ADR83359;EAW56790;EAW56791;EAW56792;EAW56793;NP_777565;Q17RN3 Hs.355162 1653108;1770501;2175811;5015861;5015961;5016596;5018953;5020946;5022578;5024413;5037552;7185938 D10S16;D15S1477;D1S1423;D8S2279;G42236;GDB:631802;L17877;L17971;RH65873;SHGC-37260;WI-15564 FLJ44669 hypothetical protein LOC147965;protein FAM98C protein-coding ENSG00000130244 27119 14077 VALIDATED 1348978 FAM9A family with sequence similarity 9, member A This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] X X X p22.32 12936488 12947076 - 8718836 8729424 - 8758836 8769424 - 1580863;6480464 15489334;12477932;12213195 171482 Q8IZU1 ABBA01070664;ABBA01070665;AC003685;AF494343;AMYH01022062;AMYH01022063;BC112022;BC113449;BC143805;CH471074;NG_016564;NM_001171186;NM_174951 AAI12023;AAI13450;AAI43806;AAN07162;ADR83325;EAW98760;EAW98761;NP_001164657;NP_777611;Q8IZU1 Hs.382062 MGC138227;MGC142009;TEX39A OTTHUMP00000022874;family with sequence similarity 9, member A;protein FAM9A;testis expressed 39A APPROVED protein-coding ENSG00000183304 18403 06506 300477 VALIDATED 1606116 FAM98B family with sequence similarity 98, member B 15 15 15 q14 15513352 15544221 + 36533620 36564355 + 38746328 38777063 + 6480464 17353931;17567985;15489334;14702039;12477932;21145461;22939629;21628590;21139048;21906983;21110914;22174317 283742 H0YNA1;Q52LJ0 ABBA01038479;ABBA01038480;ABBA01038481;AC109631;AC116158;AK095745;AMYH01006551;AMYH01006552;BC035600;BC093898;BP872410;CH471125;NM_001042429;NM_173611 AAH93898;BAC04621;EAW92369;EAW92370;EAW92371;NP_001035894;NP_775882;Q52LJ0 Hs.744003 5022578 D1S1423 FLJ38426 OTTHUMP00000160268;family with sequence similarity 98, member B;protein FAM98B protein-coding 26773 08786 VALIDATED 1602116 FAM96B family with sequence similarity 96, member B 16 16 16 q22.1 51474217 51476579 - 65523467 65525804 - 66965958 66968326 - 6480464 17353931;16189514;15489334;12477932;12107413;11042152;10810093;22939629;22990118;23150669;18029348;16344560;20797633;21722264;21139048;21906983;22190034;23022198 51647 H3BNV7;J3KS95;J3QLT9;Q9Y3D0 ABBA01025423;AC009084;AF151886;AF161467;AMYH01007744;BC001733;BC005023;BI598300;BI603322;BM091095;BQ955804;CD674578;CH471092;DA270099;DR155511;NM_016062;NR_024525;NR_046109 AAD34123;AAF29082;AAH01733;AAH05023;EAW83056;NP_057146;Q9Y3D0 Hs.9825 2122704 D16S3323 CGI-128;MIP18 MSS19-interacting protein of 18 kDa;hypothetical protein LOC51647;mitotic spindle-associated MMXD complex subunit MIP18 protein-coding ENSG00000166595 24261 13033 614778 VALIDATED 1602086 FAM96A family with sequence similarity 96, member A 15 15 15 q22.31 41244173 41265622 - 62151814 62173260 - 64364761 64386207 - 6480464 16189514;15489334;15146197;14702039;12477932;8889548;22683786;21139048;21906983 84191 H0YKV4;H0YLH6;Q9H5X1 ABBA01038903;AC021541;AK304202;AK312171;AMYH01006706;BC008865;BM706342;CH471082;CN421575;CS072305;NM_001014812;NM_032231 AAH08865;BAG35105;BAH14131;CAI93443;EAW77660;EAW77661;EAW77662;NP_001014812;NP_115607;Q9H5X1 Hs.439548 1657526;1679477;1797116;1854869;1855454;2186236;5091710 FLJ22875;G19675;RH16689;RH45603;RH45716;RH66054;RH70413 FLJ22875 MIP18 family protein FAM96A;OTTHUMP00000163905;family with sequence similarity 96, member A protein-coding ENSG00000166797 26235 08010 VALIDATED 1345676 FAM9B family with sequence similarity 9, member B This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011] X X X p22.32 13170755 13178835 - 8953036 8962168 - 8993036 9001116 - 1580863 15489334;14702039;12477932;12213195;18029348;21085121;21998597;22936694 171483 E9PL73;Q8IZU0;Q8N7Z8 ABBA01070682;AC074281;AF494344;AK097501;AK128470;AMYH01022064;BC120955;BC120956;CH471074;NM_205849 AAI20956;AAI20957;AAN07163;BAC05078;EAW98763;EAW98764;EAW98765;EAW98766;NP_995321;Q8IZU0 Hs.733351 FLJ40182;TEX39B OTTHUMP00000022876;OTTHUMP00000022877;family with sequence similarity 9, member B;protein FAM9B;testis expressed 39B APPROVED protein-coding ENSG00000177138 18404 06566;15955 300478 VALIDATED 1345371 FAM9C family with sequence similarity 9, member C This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011] X X X p22.2 17171404 17180585 - 12963658 12972721 - 13053736 13062917 - 1580863;6480464 16344560;15489334;12477932;12213195;23836295 171484 G3V1I3;H7C346;Q8IZT9 ABBA01071066;AC139705;AF494345;AK313776;AMYH01022092;BC127957;BX647580;BX648111;BX648919;CH471074;DA958431;DB333543;NG_021290;NM_174901 AAI27958;AAN07164;BAG36514;CAI46007;CAI46034;CAI46094;EAW98815;EAW98816;EAW98817;NP_777561;Q8IZT9 Hs.667546 2107075;5014051;5022200 D8S2278;FAM9C__7635;L18426 TEX39C OTTHUMP00000022923;OTTHUMP00000022924;OTTHUMP00000196387;family with sequence similarity 9, member C;protein FAM9C;testis expressed 39C APPROVED protein-coding ENSG00000187268 18405 06507 300479 VALIDATED 7174889 FANCD2P1 Fanconi anemia, complementation group D2 pseudogene 1 3 10034558 10036007 + 100421239 ABBA01020396;AC022007;AMYH01012966;NG_025673 pseudo 44487 INFERRED 1604829 FAN1 FANCD2/FANCI-associated nuclease 1 This gene encodes a member of the myotubularin-related class 1 cysteine-based protein tyrosine phosphatases. The encoded protein may be catalytically inactive. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2009] 15 15 15 q13.2-q13.3 8921590 8960771 + 28983421 29022600 + 31196055 31235311 + 6480464 22611161;16344560;15342556;15186772;12477932;10231032;17148452;20671156;20603015;20603016;20603073;21115814;20935496;23505323;21693764;21858661;22772369 22909 H3BQ24;H3BUK3;Q9Y2M0 AB023235;ABBA01038321;ABBA01038322;AC087481;AK290987;AMYH01006503;BC044890;BC047882;BP310263;BX647391;CH471216;CR936727;CR936734;DA841207;HM560957;NG_032946;NM_001146094;NM_001146095;NM_001146096;NM_014967 AAH47882;ACE86680;ADK11100;BAA76862;BAF83676;EAW61257;NP_001139566;NP_001139567;NP_001139568;NP_055782;Q9Y2M0 Hs.584863 1663427;1686632;1693640;1694464;1722085;1851763;2131149;2161106 G42953;G60084;NIB2035;RH64897;RH80621;SHGC-58554;WI-11934;WI-19599 DKFZp451H236;DKFZp686K16147;KIAA1018;KMIN;MTMR15 coiled-coil domain-containing protein MTMR15;fanconi anemia associated nuclease 1;fanconi-associated nuclease 1;myotubularin related protein 15;myotubularin-related protein 15 APPROVED protein-coding ENSG00000198690 29170 17205 613534;614817 REVIEWED 1603367 FANCD2OS FANCD2 opposite strand This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013] 3 3 3 p25.3 10058671 10085581 - 10098004 10124915 - 10123004 10149915 - 6480464 15489334;12477932;17207965 115795 H0YBI7;Q96PS1 ABBA01020392;ABBA01020393;AC034193;AF230334;AMYH01012968;AMYH01012969;AW074860;AY248899;BC028122;CH471055;NM_001164839;NM_173472 AAH28122;AAL05979;AAP20050;ADQ31605;EAW64059;NP_001158311;NP_775743;Q96PS1 Hs.190413 1662885;1684866;2107077;2136854 FANCD2_2498;RH92698;SGC34603;SHGC-76704 C3orf24;MGC40179 FANCD2 opposite strand protein;Fanconi anemia group D2 protein opposite strand transcript protein;OTTHUMP00000224987;OTTHUMP00000224989;hypothetical protein LOC115795;uncharacterized protein C3orf24 APPROVED protein-coding ENSG00000163705 28623 17552 VALIDATED 1351449 FANCB Fanconi anemia, complementation group B The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] X X p22.2 14771450 14801105 - 14861529 14891184 - 6480464;7240710 15342556;19536649;18302019;17903171;16679491;16116422;15611632;15502827;15489334;14702039;12477932;11601848;11307801;9480775;9382107;8609606;22705371;20332657;17396147;20347428;20465790;20301575;20347429;20360068;21910217;16720839;17289582;22505724 2187 C9J5X9;Q8NB91 ABBA01071238;ABBA01071239;ABBA01071240;ABBA01071241;ABBA01071242;ABBA01071243;AC140846;AK091383;AMYH01022102;AMYH01022103;BC043596;BC055411;BC136558;BC136560;BP236844;CH471074;NG_007310;NM_001018113;NM_152633 AAH43596;AAH55411;AAI36559;AAI36561;BAC03650;EAW98861;EAW98862;EAW98863;NP_001018123;NP_689846;Q8NB91 Hs.554740 FA2;FAAP90;FAAP95;FAB;FACB Fanconi anemia group B protein;OTTHUMP00000022952;OTTHUMP00000022953;fanconi anemia-associated polypeptide of 95 kDa;type 2 Fanconi pancytopenia APPROVED protein-coding ENSG00000181544 3583 06557 300514;300515 REVIEWED 735813 FANCC Fanconi anemia, complementation group C The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008] 9 9 q22.3 96901157 97119812 - 97861336 98079991 - 1580863;1300359;1300317;1300316;2317238;2317239;6480464;7240710 8499901;8704201;8630504;16243825;15695377 11063725;10848598;10627486;10572087;10551855;10431244;10373536;9742112;9454773;9242535;8844212;8829660;8639804;8613549;8490620;8348157;8128956;8125298;8103176;8081385;8058745;7518843;7517562;7492758;1641028;1303234;15082718;12973351;12210728;15262960;12649160;12093742;14499622;17353931;11401546;11433346;9596688;1574115;9398857;19237606;19064572;18990233;18950845;18607065;18264947;17977515;17490643;16513431;16429406;16344560;16127171;16116422;15726604;15616572;15502827;15489334;15327776;15299030;15256425;15077170;14625294;12763929;12724401;12477932;12397061;12239156;11986317;11876000;11751423;11520787;11500375;11427142;11157805;19714462;19913121;20628086;12692539;19536649;19690177;20347428;20379614;20496165;20864535;20869034;20509860;20538911;20301575;20518497;17671210;18550849;19102630;12444097;15299017;16720839;17082180;17289582;23028338;21543111;21697891;10210316;10961856;11167740;11297559;11438206;11750104;17396147;9787138;21670957;22266823;22705371;22653977;21861228;21963094;21988832 2176 B1ALR7;B4E3W2;Q00597 ABBA01043622;ABBA01043623;ABBA01043624;AI280997;AK222871;AK304887;AK310599;AK312548;AL157384;AL354893;AMYH01021532;AMYH01021533;AU132608;AY220878;BC006303;BC015748;BC041030;CB052780;CH471174;DB445119;L02664;NG_011707;NM_000136;NM_001243743;NM_001243744;X66893;X66894;X83115 AAA53104;AAH15748;AAO26042;ABM86348;ABW03784;BAG65624;CAA47347;CAA47348;EAW92626;EAW92627;EAW92628;EAW92629;NP_000127;NP_001230672;NP_001230673;Q00597 Hs.494529 1662412;1666210;1673006;1682291;1713363;1721587;1740197;1745859;1749089;1773144;1779076;2144585;2151769;2157895;2160293;2174842;5022651;5120207 203WH8;D11S2921;D16S2944;D9S1775;D9S1958;G59803;GDB:207703;GDB:677129;RH119536;RH98839;SGC35427;SGC44362;SHGC-110746;STS-H94332;STS-X66893;U57800;WI-11677;WI-18181 FA3;FAC;FACC;FLJ14675 Fanconi anemia group C protein;OTTHUMP00000021706;OTTHUMP00000021707;bA80I15.1 (Fanconi anemia, complementation group C, protein) APPROVED protein-coding ENSG00000158169 3584 01967 227645;613899 REVIEWED 1322810 FANCA Fanconi anemia, complementation group A The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] 16 16 q24.3 88331460 88410566 - 89803959 89883065 - 1580863;2317735;6480464;7240710 15591268 11401546;16751776;22561518;15262960;12571280;9398857;19237606;19109555;19064572;19015634;19012493;18950845;18676680;18270339;18224251;18056155;16946016;16116422;15917947;15860134;15790592;15502827;15489334;15256425;15138265;15059067;14749703;14630800;12724401;12637330;12477932;12444097;12384774;12354784;12239156;12210728;12031647;11855836;11726552;11344308;11157805;11091222;11063725;11050007;10936108;10936049;10807541;10521298;10468603;10210316;10094191;9929978;9789045;9742112;9721219;9711872;9399890;9382107;9371798;9169126;8896563;8755924;7581462;18285517;16189514;15082718;14697762;12973351;12649160;11739169;10961856;10652215;10627486;10567393;10468606;10373536;10551855;12093742;10600472;14499622;19714462;19913121;20628086;16474167;20585627;12692539;15367677;17474147;18457264;18550849;19170196;19491337;19625176;19690177;19692168;20347428;20453000;20496165;20800603;20425471;20864535;22396592;20301575;21236561;17671210;18174376;18212739;19779646;19995904;21490707;20064461;20347429;20450923;20518497;20937699;21109493;21240188;21273304;15192709;15299017;15299030;16116434;16621732;16720839;17082180;17289582;23021409;23455922;11161829;11167740;11181053;11297559;11438206;11750104;17396147;21139048;21890473;21906983;21975120;22194614;22266823;22705371;21963094;22505724 2175 F5H8D5;H3BM41;H3BNS0;H3BQU1;H3BQU6;H3BQW7;H3BQX1;H3BRT6;H3BRX3;H3BS03;H3BS84;H3BSA3;H3BSI9;H3BSL6;H3BSR5;H3BT32;H3BT40;H3BT53;H3BUI1;H3BV66;Q0VAP4;Q86U55;Q9UEL9 ABBA01014131;ABBA01014132;ABBA01014133;ABBA01014134;AC005360;AC005565;AC005567;AC092385;AF054569;AJ131189;AJ131190;AJ225084;AJ225085;AK299282;AK301168;AMYH01007938;AY598423;BC008979;BC022498;BC064540;BC120978;BC120979;BC127633;BC141971;BC141972;BT007366;CH471184;DQ574346;NG_011706;NM_000135;NM_001018112;X99226;Z83067 AAC28331;AAC28751;AAC33304;AAC33401;AAH08979;AAH64540;AAI20979;AAI20980;AAI27634;AAI41972;AAI41973;AAI56523;AAI72515;AAP36030;AAS99350;BAG61299;BAH13420;CAA12393;CAA12394;CAA67610;CAB05445;CAB46099;CAB46100;EAW66685;EAW66686;NP_000126;NP_001018122;O15360 Hs.744083 1793864;1794634;1795812;1851516;2124497;5019062 FANCA_1338;G44297;PMC30172P1;PMC33282P1;SHGC-60782;SHGC-61164 FA;FA-H;FA1;FAA;FACA;FAH;FANCH;MGC75158 Fanconi anemia group A protein;Fanconi anemia, complementation group H;Fanconi anemia, type 1 APPROVED protein-coding ENSG00000187741 3582 06186 227650;607139 REVIEWED 1343234 FANCD2 Fanconi anemia, complementation group D2 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 p26 10043113 10118614 + 10068113 10143614 + 1580863;1601137;6480464;7240710 11239453 12874027;19465922;19423727;19237606;19064572;19047177;19011769;18950845;18672388;18482162;18475298;18469862;18270339;18263878;18212739;18029388;17898070;17643815;17460694;17436244;17333336;16943440;16679306;16474167;16127171;16116422;15886296;15849361;15694335;15671039;15661754;15650050;15502827;15489334;15454491;15377654;15314022;15302935;15257300;15199141;15115758;14988723;14743216;14702039;14667412;14517836;12973351;12649160;12607005;12607003;12477932;12447395;12389351;12239151;12093742;12086603;12042798;11751423;11733219;11239454;10762542;7581463;14499622;12887909;21919919;20671156;19714462;20603015;22872141;20819778;20339950;18082604;19064571;19466639;19504183;19536092;19536649;19561358;19609304;19671671;19690177;19704162;19729998;19748364;19861535;20040763;20379614;20496165;20363922;20805509;20507282;20538911;20301575;20676667;20556575;20603016;20603073;20967207;21314979;21355096;17304220;20450923;21229326;22863883;21203397;18931676;19129235;19995904;16513431;17308347;22828868;20519958;21697891;17314511;21520247;21912593;18781797;21139048;21693764;21890473;21906983;21995812;19471022;22484854;19322201;21775430;21865299;22855611;22287633;22705371;21963094;23000965;23063585;22829014;22053931;22505724 2177 F8WE37;H7BZJ7;Q9BXW9 ABBA01020393;ABBA01020394;ABBA01020395;ABBA01020396;AC034193;AF230336;AF273251;AF340183;AK022613;AK074406;AK307512;AL832427;AMYH01012966;AMYH01012967;AMYH01012968;BC013582;BC038666;BU617044;BX956311;CH471055;DQ341263;NG_007311;NM_001018115;NM_033084 AAH13582;AAI56800;AAK15369;AAK18772;AAK18773;AAL05980;ABC67466;BAB14132;CAH10647;EAW64055;EAW64056;EAW64057;EAW64058;NP_001018125;NP_149075;Q9BXW9 Hs.208388 1662885;1684866;1735314;1775076;2107077;2136854;5014051;5022651;5024039;5037552 D11S2921;D16S325;D3S2947E;D8S2278;D8S2279;FANCD2_2498;RH92698;SGC34603;SHGC-76704;SHGC-76726 DKFZp762A223;FA-D2;FA4;FACD;FAD;FAD2;FANCD;FLJ23826 Fanconi anemia group D2 protein;OTTHUMP00000158853;OTTHUMP00000207925;type 4 Fanconi pancytopenia APPROVED protein-coding ENSG00000144554 3585 01968 227646;613984 REVIEWED 1354425 FANCE Fanconi anemia, complementation group E The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008] 6 6 p22-p21 35528116 35542859 + 35420138 35434881 + 1580863;1598924;6480464;7240710 11001585 16127171;15502827;12093742;19064572;18950845;17308347;17296736;16513431;16116422;15489334;14574404;12724401;12649160;12477932;12239156;11157805;10205272;9382107;9147877;7662964;18285517;15115758;15262960;12973351;15199141;19714462;18550849;19536649;19690177;20347428;20496165;20800603;20301575;20937699;20064461;19704162;14625294;15082718;16116434;17082180;17289582;17396147;20360068;21890473;21906983;22705371;19322201;22266823;23284291 2178 Q9HB96 ABBA01038233;ABBA01038234;AF265210;AK292522;AK312617;AL022721;AMYH01016267;BC046359;CH471081;DQ020173;NG_011708;NM_021922 AAG16743;AAH46359;AAY26395;BAF85211;EAX03830;NP_068741;Q9HB96 Hs.302003 1795814;5022578 D1S1423;FANCE_1493 FACE;FAE Fanconi anemia group E protein;OTTHUMP00000016254 APPROVED protein-coding ENSG00000112039 3586 02943 600901;613976 REVIEWED 7243018 FANK1-AS1 FANK1 antisense RNA 1 101410540 AC063963;AW080472;NR_102707 miscrna 43915 VALIDATED 1345063 FANCF Fanconi anemia, complementation group F The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008] 11 11 p15 22600655 22603963 - 22644079 22647387 - 1580863;1598925;2290045;2290044;2298507;2298508;6480464;7240710 10615118;15126331;16418574;18414472;15574200 11063725;19064572;18950845;17932744;17082180;16116422;15502827;15489334;15262960;15124103;14702039;14647419;12724401;12477932;12239156;12093742;11157805;9382107;8125298;12649160;12973351;16169070;18550849;19536649;19690177;19801548;20347428;20496165;16712791;16474167;20301575;20064461;20347429;20450923;21109493;18212739;19102630;19813073;12444097;15082718;16127171;16621732;16720839;17289582;11750104;17396147;21906983;22705371 2188 A3KME0;Q9NPI8 ABBA01061015;AC103801;AF181994;AF181995;AK001716;AK023153;AK223277;AMYH01003438;AY928335;BC047028;BC063038;BC093867;BC101807;BI522448;BX640996;CB157038;CH471064;NG_007425;NM_022725 AAF26297;AAF26298;AAH47028;AAH63038;AAH93867;AAI01808;AAX09677;BAB14433;BAD96997;BAG50967;CAE45999;EAW68319;NP_073562;Q9NPI8 Hs.632151 1673591;1774425;1777559;2181937;5015619;5492879 D11S3114;D11S4279;RH12721;RH78226;UniSTS:483136;WI-13404 FAF;MGC126856 Fanconi anemia group F protein;OTTHUMP00000231845 APPROVED protein-coding ENSG00000183161 3587 04589 603467;613897 REVIEWED 1312384 FANK1 fibronectin type III and ankyrin repeat domains 1 10 10 10 q26.2 121360544 121473605 + 127575098 127688151 + 127585108 127698161 + 737633;6480464 12477932 19240061;18682798;17604233;15489334;14702039;12975309;20379614;20211142;20978819;22589738;18029348 92565 A6NH44;A6NKD7;A6NP17;B7Z939;C9JD80;H7C3M3;Q8TC84 ABBA01034174;AC063963;AK021437;AL360176;AMYH01003163;AMYH01003164;AY251163;AY358154;BC024189;BQ225468;CH471066;CR627249;NM_145235 AAH24189;AAP20060;AAQ88521;EAW49211;EAW49212;EAW49213;EAW49214;NP_660278;Q8TC84 Hs.352591 1732111;1767329;1779406;1947262;2123007;2141446;2141546;2158415;2172798 D14S943;D21S1278;G18008;GDB:312730;REN44476;RH46156;SHGC-153394;SHGC-53755;WI-4721 HSD13 1700007B22Rik;OTTHUMP00000020720;fibronectin type 3 and ankyrin repeat domains 1;fibronectin type 3 and ankyrin repeat domains protein 1 protein-coding ENSG00000203780 23527 09945 611640 VALIDATED 5129243 FAR1P1 fatty acyl CoA reductase 1 pseudogene 1 13 13 13 q31.3 71668564 71669608 + 89613580 89622165 + 90823117 90824161 + 100128011 ABBA01027252;AL354915;AMYH01005282;NG_021972 pseudo 39675 INFERRED 1350702 FANCG Fanconi anemia, complementation group G The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008] 9 9 p13 35063835 35070013 - 35073835 35080013 - 1580863;1599879;2317238;6480464;7240710 9806548;16243825 12210728;17060495;9256465;19339270;19237606;19064572;18950845;18212739;17010390;16621732;16609022;16195237;16189514;16116422;15657175;15502827;15489334;15319283;15256425;15164053;15138265;15059067;12915460;12861027;12724401;12649160;12552564;12477932;12432219;12239156;12093742;11918676;11756225;11157805;11093276;11063725;11050007;10807541;10627486;10468603;10373536;9382107;15082718;14697762;12973351;11739169;10961856;10652215;10567393;10468606;15262960;14499622;11401546;15367677;20518486;19913121;20628086;18550849;19447967;19536092;19536649;19690177;19861517;20347428;20403997;20496165;16474167;20301575;20347429;20450923;20518497;20603015;12692539;17671210;18174376;19102630;19109555;19995904;12444097;15192709;15299017;15299030;16720839;17082180;17289582;11161829;11167740;11181053;11297559;11438206;11750104;17396147;21750350;21975120;21139048;21890473;21906983;21987572;22705371;21963094 2189 C9JSE3;F8WC08;O15287;Q53XM5 ABBA01064998;AC004472;AJ007669;AK293427;AK311348;AK312987;AL353795;AMYH01019341;AY795970;BC000032;BC011623;BT009813;CH471071;NG_007312;NM_004629;U70310 AAB80802;AAC07981;AAH00032;AAH11623;AAP88815;AAV40841;ABM83092;ABM86286;BAG35824;BAG56932;CAA07602;EAW58401;EAW58402;NP_004620;O15287 Hs.591084 1644177;1699688;2115396;2217316 A002I21;FANCG_2802;RH103449;RH15902 FAG;XRCC9 DNA repair protein XRCC9;Fanconi anemia group G protein;OTTHUMP00000021319;X-ray repair complementing defective repair in Chinese hamster cells 9;X-ray repair, complementing defective, in Chinese hamster, 9 APPROVED protein-coding ENSG00000221829 3588 04262 602956;614082 REVIEWED 1322885 FANCL Fanconi anemia, complementation group L The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 p16.1 58239882 58322018 - 58386378 58468515 - 1580863;6480464;6907045;7240710 18607065;18270339;17106252;16474167;16344560;16116422;15815621;15502827;15489334;14702039;12973351;12724401;12606378;12477932;12417526;8125298;18285517;12574169;22287633;15761153;17396147;18550849;19589784;19690177;19737859;20347428;20407210;20935630;21297076;22653977;20937699;21229326;20347429;18174376;16720839;16916645;17289582;21543111;22828653;21697891;21975120;21906983;21775430;22705371;20301575;21963094;22797925;19111657;17938197 55120 B4DN24;B5MC31;B5MCZ6;C9J512;C9JPN7;C9JZA9;H7C1M0;Q9NW38 ABBA01075308;AC007250;AK001197;AK225147;AK297736;AK309671;AL036481;AMYH01010374;BC009042;BC037570;BC041627;BC054517;BQ574618;CH471053;DB032206;NG_007418;NM_001114636;NM_018062 AAH09042;AAH54517;AAY15020;BAA91548;BAG60086;EAX00056;EAX00057;EAX00058;EAX00059;EAX00060;EAX00061;NP_001108108;NP_060532;Q9NW38 Hs.631890 1644000;1648059;1695020;1734764;2107079;2125989;2140251 D2S1547E;D2S2913;FANCL__7636;G44723;RH78793;SHGC-35879;WI-18292 FAAP43;FLJ10335;PHF9;POG E3 ubiquitin-protein ligase FANCL;OTTHUMP00000159703;OTTHUMP00000201190;OTTHUMP00000201191;OTTHUMP00000201192;OTTHUMP00000201194;OTTHUMP00000201196;PHD finger protein 9;fanconi anemia group L protein;fanconi anemia-associated polypeptide of 43 kDa APPROVED protein-coding ENSG00000115392 20748 06997 608111;614083 REVIEWED 6481287 FARP1-AS1 FARP1 antisense RNA 1 100874080 AL137249 APPROVED miscrna 40229 5130484 FARP1-IT1 FARP1 intronic transcript 1 (non-protein coding) 13 q32.2 98980972 98985492 + 101060526 AI381545;AL161896;AMYH01005321;AW270133;BX115123;XR_172014;XR_172015 Hs.729583 1697362 RH102179 miscrna 39810 MODEL 1317358 FANCM Fanconi anemia, complementation group M The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. [provided by RefSeq, Jul 2008] 14 14 q21.2 44674886 44739840 + 45605136 45670093 + 6480464;7240710 15561718;22510687;19423727;19270156;18995830;18285517;18206976;18174376;16116434;16116422;15489334;14702039;12477932;10997877;21139048;19913121;20628086;20670894;17289582;19536649;19690177;19737859;20010692;20064461;20160754;20347428;20347429;22990118;16720839;22392978;21832049;17396147;21975120;23333308;22279085;22705371;20301575;22017875;22696213 57697 B2RTQ9;H0YJ14;H0YJ45;H0YJN7;H0YJS3;Q8IYD8 AB046816;ABBA01018051;ABBA01018052;AK001672;AK093422;AL121809;AL833656;AMYH01005702;BC036056;BC140776;BC144511;BX500546;CH471078;DQ140356;NG_007417;NM_020937 AAH36056;AAI40777;AAI44512;AAI56491;AAZ53290;ADZ15326;BAB13422;BAC04159;EAW65781;EAW65782;EAW65783;EAW65784;NP_065988;Q8IYD8 Hs.509229 1670935;1688763;2136415;2157132;2162773 G35375;G35560;G35743;G36291;RH92154 FAAP250;KIAA1596;MGC176453 ATP-dependent RNA helicase FANCM;Fanconi anemia group M protein;OTTHUMP00000244461;OTTHUMP00000244462;OTTHUMP00000244463;fanconi anemia-associated polypeptide of 250 kDa;protein Hef ortholog APPROVED protein-coding ENSG00000187790 23168 13876 609644;614087 REVIEWED 1605380 FANCI Fanconi anemia, complementation group I The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 q26.1 87588198 87661366 + 89787194 89860362 + 6480464;7240710 21145461;22287633;17353931;17460694;19465922;19111657;18931676;17452773;17412408;16964243;15489334;15146197;14702039;14630800;12477932;11347906;20671156;20562859;15199141;17478428;18082604;19536649;19561358;19589784;19615732;19737859;20603015;20971953;21355096;19995904;21832049;22863883;18029348;21963094;22678362;23000965;23383273;21415862;21896657;21987572;19471022;21139048;21693764;21890473;21906983;21252943;21628590;21775430;22855611;22586326;20301575;22053931;22505724;22797925 55215 B3KNW8;F8W7R3;H3BMG4;H3BN35;H3BP78;H3BQE2;H3BS60;H3BT54;Q9NVI1 AB058697;ABBA01053007;AC124068;AK001581;AK027564;AK055176;AMYH01006913;AMYH01006914;BC004277;BC021859;BC140769;BC144483;BC146804;BM461935;BQ050477;BU187299;CH471101;CN365698;EF469766;EF567077;NG_011736;NM_001113378;NM_018193 AAH04277;AAI40770;AAI44484;AAI66621;ABP88002;ABQ63084;BAA91770;BAB47423;BAB55200;BAG51480;EAX02039;EAX02040;EAX02041;EAX02042;EAX02043;EAX02044;NP_001106849;NP_060663;Q9NVI1 Hs.513126 1767839;1775486;1789927;1794342;2112934;2112980;2112984;2122034;2162050;2168462;2191791;5094845 D15S1387;D15S1449E;D15S1452E;D15S736;MARC_7859-7860:996688105:3;PMC311040P10;POLG;RH66025;RH67845;RH68306;RH77770;csnppolg-pcr23-1 FLJ10719;KIAA1794 Fanconi anemia group I protein;OTTHUMP00000163943 APPROVED protein-coding ENSG00000140525 25568 13339 609053;611360 REVIEWED 1315381 FAR1 fatty acyl CoA reductase 1 11 11 11 p15.2 13815947 13879631 + 13646847 13710469 + 13690206 13753893 + 737633;6480464 12477932 17353931;19027726;16396496;21145461;16344560;15489334;15220349;15220348;14702039;12975309;20071337;16756494;18781797;21987572;21139048;21890473;21906983;22797925 84188 E9PNW8;E9PPB8;Q8WVX9 ABBA01061120;ABBA01061121;AC013828;AC026843;AF086349;AK024967;AK026381;AK090880;AK315527;AL713674;AMYH01003399;AY358784;AY423606;AY600449;BC017377;BX648892;CH471064;CR936619;DA515509;NM_032228 AAH17377;AAQ89144;AAR84086;AAT42129;BAB15467;BAG37908;CAI56762;EAW68491;EAW68492;EAW68493;NP_115604;Q8WVX9 Hs.501991 1739933;2179785;2219934;5126090 D11S4062;MLSTD2__6323;RH68662;STS-N63551 DKFZp686A0370;DKFZp686P18247;FLJ22728;FLJ33561;MLSTD2;SDR10E1 OTTHUMP00000230853;OTTHUMP00000235297;fatty acyl-CoA reductase 1;male sterility domain containing 2;male sterility domain-containing protein 2;putative fatty acyl reductase;short chain dehydrogenase/reductase family 10E, member 1 protein-coding ENSG00000197601 26222 14724 VALIDATED 1344680 FAR2 fatty acyl CoA reductase 2 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012] 12 12 12 p11.22 34522215 34632754 + 29267865 29378273 + 29376598 29487006 + 737633;6480464 12477932 19027726;15489334;15220349;15220348;14702039;11230166;16756494;20379614;21890473;16344560;22139419;22797925 55711 B2RBI0;F8VPF2;F8VV73;F8VX60;H0YHP1;H0YIE0;Q96K12;Q9NUX8 ABBA01068068;ABBA01068069;ABBA01068070;ABBA01068071;ABBA01068072;AC009318;AC012150;AK001324;AK001927;AK027756;AK129857;AK314670;AL136843;AMYH01004357;BC022267;CB217408;CH471094;DA068892;DA848036;NM_001271783;NM_001271784;NM_018099 AAH22267;BAA91625;BAA91983;BAB55347;BAG37227;CAB66777;EAW96586;EAW96587;NP_001258712;NP_001258713;NP_060569;Q96K12 Hs.728955;Hs.744741 1649271;1672180;1677560;1726119;2132272;2176276 G62239;RH94141;SHGC-35864;STS-AA005136;WI-13845;WI-14934 FLJ10462;MLSTD1;SDR10E2 OTTHUMP00000240783;OTTHUMP00000240784;OTTHUMP00000240785;fatty acyl-CoA reductase 2;male sterility domain containing 1;male sterility domain-containing protein 1;short chain dehydrogenase/reductase family 10E, member 2 protein-coding ENSG00000064763 25531 14723 REVIEWED 7240977 FARSBP1 phenylalanyl-tRNA synthetase, beta subunit pseudogene 1 647532 ABBA01003789;AC027673;AMYH01002886;NG_005861 pseudo 45115 INFERRED 732069 FAP fibroblast activation protein, alpha The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. [provided by RefSeq, Jul 2008] 2 2 q23 162735446 162808291 - 163027200 163100045 - 1580863;6480464 7519584;20806341;7911242;9065413;9688278;9247085;18823010;18665076;18570153;18095711;18071670;16700525;16507127;16480718;16410248;16335952;16223769;16196122;16175601;16061874;15809306;15767544;15489334;14707457;14702039;14524536;12963128;12926053;12675244;12477932;12376466;12028401;12023964;10644713;7774951;22435331;22674411;16651416;19747910;19817894;20043068;20155839;20379614;20711172;20872224;21314817;22608558;22939629;21491083;21526345;22371645;21668992;17317851;22067528;22318606;22734237;22323494;22750443;22614695;23328994;22911669 2191 B4DLR2;C9J131;F8WF29;H0YG61;H7C4D9;Q12884 ABBA01004891;AC007750;AK055327;AK297118;AK309260;AK310293;AK315448;AL832166;AMYH01011214;BC026250;CH471058;NG_027991;NM_004460;U09278;U76833 AAB49652;AAC51668;AAH26250;AAY24205;ABM82349;ABM85523;BAG37836;BAG59624;EAX11353;EAX11354;NP_004451;Q12884 Hs.654370 1645358;1728993;1754057;2108085 FAP_8340;Fap;SHGC-12594;SHGC-132096 DKFZp686G13158;DPPIV;FAPA 170 kDa melanoma membrane-bound gelatinase;OTTHUMP00000204566;OTTHUMP00000207304;fibroblast activation protein;integral membrane serine protease;seprase APPROVED protein-coding ENSG00000078098 3590 02674 600403 REVIEWED 2312692 FAS-AS1 FAS antisense RNA 1 10 10 q24.1 84497966 84499519 - 90751179 90752732 - 15829500 100302740 ABBA01021950;AL157394;AMYH01002934;NG_009089;NR_028371 Hs.244139 1789048;2166095 G65659;SHGC-30908 FAS-AS;FASAS;FLJ36021;SAF APPROVED miscrna 37128 VALIDATED 1313320 FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) This gene was originally isolated through subtractive hybridization due to its increased expression in differentiated chondrocytes versus dedifferentiated chondrocytes. The resulting protein contains a predicted ezrin-like domain, a Dbl homology domain, and a pleckstrin homology domain. It is believed to be a member of the band 4.1 superfamily whose members link the cytoskeleton to the cell membrane. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q32.2 79642528 79949414 + 97593435 97900024 + 98795434 99102023 + 1580863;6480464 9425278;16381901;15489336;15489334;15057823;14702039;12477932;11076863;20708005;21116278;19475631;20171287;20379614;19389623;21139048;21906983;19322201;22952603;23251661 10160 C9JME2;H0Y783;M0QXT1;M0QYB0;M0R262;Q9Y4F1 AB008430;ABBA01027142;ABBA01027143;ABBA01027144;ABBA01027145;ABBA01027146;ABBA01027147;ABBA01027148;ABBA01027149;ABBA01027150;AI273567;AI274149;AK095747;AK123565;AL136300;AL137249;AL161896;AL445223;AMYH01005320;AMYH01005321;BC041595;BC053593;BC065020;BC071592;BE463494;BX647479;CH471085;NM_001001715;NM_005766 AAH41595;AAH71592;BAA24267;CAL38058;CAL38095;CAL38331;EAX08982;NP_001001715;NP_005757;Q9Y4F1 Hs.403917 1338880;1339250;1644161;1651321;1666330;1679489;1680383;1689680;1697362;1712152;1717607;1722291;1736360;1736368;1738413;1738419;1738429;1750039;1766401;1767409;1773550;1782892;1850464;1853909;1856928;2109297;2111652;2111718;2113324;2120303;2138946;2141865;2150777;2155701;2159748;2162392;2164237;2178522;2185979;5015619;5015961;5022578;5037552;5091419;7184733;7185243;7186320 A006I40;AFM210wb6;D11S3114;D13S1167;D13S1192;D13S128;D13S1298;D13S1378;D13S1579;D13S159;D13S1625;D13S1723;D13S671E;D13S674E;D13S680E;D13S843E;D13S868E;D13S871E;D13S896;D15S1477;D1S1423;D8S2279;FARP1_9051;G09892;G54126;G60059;HSC02G012;NIB529;RH102179;RH122108;RH44997;RH47601;RH79725;RH92898;RH93030;SHGC-111725;SHGC-149744;SHGC-154508;STS-AA007218;STS-H78565;WI-10746;WI-11272;WI-14178;WI-17161 CDEP;MGC87400;PLEKHC2;PPP1R75 FERM, RhoGEF and pleckstrin domain-containing protein 1;OTTHUMP00000018588;OTTHUMP00000018591;PH domain-containing family C member 2;chondrocyte-derived ezrin-like protein;pleckstrin homology domain-containing family C member 2;protein phosphatase 1, regulatory subunit 75 APPROVED protein-coding ENSG00000152767 3591 602654 REVIEWED 1317522 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 2 2 2 q37.3 235964969 236103837 + 241944384 242082928 + 242295664 242434256 + 1580863;6480464 12477932;9872452;9847074;14531806;12351724;15815621;15489334;15324660;12771149;20062064;20468071;20855867;21906983;22700719 9855 C9JVQ5;C9JWM9;F5GZ84;H7C210;H7C3E4;H7C3M7;H7C447;O94887 AB018336;ABBA01006045;ABBA01006046;ABBA01006047;ABBA01006048;AC005104;AC110299;AK127510;AK300435;AL122052;AMYH01011632;AMYH01011633;AW014580;BC021301;BC036887;CH471063;DB451463;NM_014808 AAH21301;AAY14682;ADZ15334;BAA34513;BAH13284;CAB59185;EAW71262;EAW71263;NP_055623;O94887 Hs.726316 1650696;1661468;1664097;1665178;1672072;1674769;1690702;1768947;1771853;1783968;1784194;1851294;2121475;2125288;2133165;2133581;2136481;2157076;2166846;2167559;2169410;2185803;5014051;5037552;5094761 A002C31;A004H18;AGAT021;D8S2278;D8S2279;G42015;G42016;G42017;G42018;G42019;RH11982;RH12332;RH12377;RH46388;RH68950;RH94346;SHGC-132960;SHGC-155394;SHGC-32276;SHGC-58074;SHGC-64062;WI-15301;WI-15981;WI-17474;WI-19287 FIR;FRG;KIAA0793;PLEKHC3 FERM domain including RhoGEF;FERM, RhoGEF and pleckstrin domain-containing protein 2;FGD1-related Cdc42-GEF;OTTHUMP00000200233;PH domain-containing family C member 3;pleckstrin homology domain-containing family C member 3 protein-coding ENSG00000006607 16460 16885 VALIDATED 1342814 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008] 6 6 p25.1 5206583 5716815 + 5261584 5771816 + 6480464 21601574;10329163;18611382;17768348;15489334;15146197;14574404;12477932;11329013;8125298;21145461;19913121;20628086;19193993;19549855;19615732;19737557;20379614;20877624;20186120;16009940;21998595;22833457 10667 O95363;Q5JRF7;R4GMX6 ABBA01022008;ABBA01022009;ABBA01022010;AF097441;AF161438;AI338405;AK223423;AK312454;AL021328;AL022097;AL121978;AL133473;AL392184;AL590868;AMYH01016050;AMYH01016051;AMYH01016052;AMYH01016053;BC020239;BC021112;BE792999;BG212473;BI761156;CH471087;CN292346;CR542279;CR591198;NG_033003;NM_006567 AAC83802;AAF28998;AAH20239;AAH21112;BAD97143;BAG35361;CAG47075;EAW55179;NP_006558;O95363 Hs.484547 1706772;1708212;1711086;1711240;1716023;1720485;1727277;1739087;1751195;1754095;1762805;1848565;2124625;2149884;2160864;2165791;5126171 A003M42;D6S1355;D6S1466;D6S2120;G59196;G63044;RH122219;RH36257;RH46741;SHGC-105068;SHGC-132132;SHGC-146584;SHGC-56759;SHGC-79364;SHGC-80854;SHGC-84977;SHGC-86182 COXPD14;FARS1;HSPC320;PheRS;dJ520B18.2 OTTHUMP00000015986;dJ236A3.1 (phenylalanine-tRNA synthetase);dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase));phenylalanine tRNA ligase 2, mitochondrial;phenylalanine translase;phenylalanine--tRNA ligase;phenylalanine--tRNA ligase, mitochondrial;phenylalanine-tRNA synthetase 1 (mitochondrial);phenylalanine-tRNA synthetase 2 (mitochondrial);phenylalanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000145982 21062 09946 611592;614946 REVIEWED 1321146 FARSA phenylalanyl-tRNA synthetase, alpha subunit Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008] 19 19 19 p13.2 12923020 12934291 - 12894284 12905558 - 13033284 13044558 - 1580863;6480464 11829477;9177188;19165527;15489334;15057824;14702039;12665801;12477932;11858721;10049785;16169070;18029348;19615732;16196087;21163940;22863883;22939629;21903422;21987572;21139048;21693764;21890473;21906983;21963094;21145461;17110338;21988832;23222517;23398456;22268729;22505724;22797925 2193 B4E363;K7EK06;K7EPH2;K7ER00;K7ER16;K7ERS0;Q6IBR2;Q9Y285 ABBA01029763;AC092069;AD000092;AF042347;AK092093;AK130195;AK304587;AMYH01009497;BC006495;BC035438;BC043565;BG284015;BT007198;CH471106;CR456740;D84471;NM_004461;U07424 AAB51175;AAB61694;AAD02221;AAH06495;AAH43565;AAP35862;ABM81671;ABM84841;BAA95666;BAG52481;BAG65375;CAG33021;EAW84328;EAW84329;NP_004452;Q9Y285 Hs.23111 1678775;1773012;5107751 RH46987;RH70803;RH98885 CML33;FARSL;FARSLA;FRSA;PheHA pheRS;phenylalanine tRNA ligase 1, alpha, cytoplasmic;phenylalanine--tRNA ligase alpha chain;phenylalanine--tRNA ligase alpha subunit;phenylalanine-tRNA synthetase alpha-subunit;phenylalanyl-tRNA synthetase alpha chain;phenylalanyl-tRNA synthetase alpha subunit;phenylalanyl-tRNA synthetase-like, alpha subunit APPROVED protein-coding ENSG00000179115 3592 04227 602918 VALIDATED 1348852 FARSB phenylalanyl-tRNA synthetase, beta subunit This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. [provided by RefSeq, Jul 2008] 2 2 q36.1 223144406 223229071 - 223436162 223520827 - 1580863;6480464 15000680;14980694;10049785;15635413;15489334;14702039;12962494;12477932;11858721;11042152;10375616;9177188;1741281;658405;20379614;20223217;20562859;22863883;22939629;15047060;18781797;21903422;22137894;21139048;21890473;21906983;21907836;22505724 10056 F5H6Y1;Q9NSD9 ABBA01023812;ABBA01023813;AC097461;AC104772;AF042346;AF161521;AK001025;AK055289;AK291531;AK294158;AK316497;AMYH01011517;BC006502;BC008434;BC011261;BC017783;BC022273;CH471063;D84430;NM_005687 AAD02220;AAF29136;AAH06502;AAH17783;AAX81986;AAX88958;BAA95608;BAF84220;BAG57481;BAH14868;EAW70802;EAW70803;EAW70804;NP_005678;Q9NSD9 Hs.471452 1651582;1725773;1771898;1771900;2129139;2130102;5019172 A002O40;A006B46;G20688;G62071;HSC2BG052;RH103332;RH47422 FARSLB;FRSB;HSPC173;PheHB;PheRS OTTHUMP00000164205;phenylalanine tRNA ligase 1, beta, cytoplasmic;phenylalanine--tRNA ligase beta chain;phenylalanine--tRNA ligase beta subunit;phenylalanine-tRNA ligase beta chain;phenylalanyl-tRNA synthetase beta chain;phenylalanyl-tRNA synthetase beta subunit;phenylalanyl-tRNA synthetase beta-subunit;phenylalanyl-tRNA synthetase-like, beta subunit APPROVED protein-coding ENSG00000116120 17800 09947 609690 REVIEWED 1606342 FASLG Fas ligand (TNF superfamily, member 6) The protein encoded by this gene is the ligand for FAS. Both are transmembrane proteins. Interaction of FAS with this ligand is critical in triggering apoptosis of some types of cells such as lymphocytes. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008] 1 1 q23 170894808 170902636 + 172628185 172636013 + 2290134;2290054;2290076;2290172;2290175;2290051;2290052;2290063;2290077;2290049;2290053;2290132;2315733;2314021;2315742;2315705;2315751;2315753;2314002;2315748;2315750;2292498;2315744;2317744;2317739;2317743;2317742;2317747;2317746;2317745;2317741;4143196;6480464;6484113;6907045;7204500 10640988;12651606;17959308;17899301;17641033;17433060;16538171;12470426;17916181;17352235;11435457;18427836;19820199;19120316;17851466;16180659;15803113;18090083;17324464;16691186;18000229;18483392;12370548;15968727;15138553;15287856;10547193;11029528;11115536;15375495;19239902;22354915 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356 P48023;Q53ZZ1 AB013303;ABBA01027917;AF288573;AK314874;AMYH01001500;AY225406;AY858799;BC017502;CH471067;D38122;EF064739;GN083421;HI179174;JA362609;NG_007269;NM_000639;U08137;U11821;X89102;Z96050 AAC50071;AAC50124;AAG60017;AAH17502;AAO43991;AAX49569;ABK41922;ABM84392;ABM87146;BAA07320;BAA32542;BAG37389;CAA61474;CAX86839;CBX53895;CCA94585;EAW90935;EAW90936;NP_000630;P48023 Hs.2007 1663285;1692800;1771274;1792034;1794944;1794946;2219744 D1S3209;D1S3717;G42266;PMC135646P4;PMC86001P1;PMC86001P2;TNFSF6_2403 ALPS1B;APT1LG1;APTL;CD178;CD95-L;CD95L;FASL;TNFSF6 APTL;CD95 ligand;OTTHUMP00000032708;apoptosis (APO-1) antigen ligand 1;apoptosis antigen ligand;fas antigen ligand;tumor necrosis factor (ligand) superfamily, member 6;tumor necrosis factor ligand superfamily member 6 APPROVED protein-coding ENSG00000117560 11936 00610 134638 REVIEWED 1346266 FAS Fas cell surface death receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011] 10 10 q24.1 90740268 90765522 + 90750288 90775542 + 1600310;1600348;1600350;1600351;1600352;1600312;1600333;1600334;1600355;1600356;1600357;1600354;1626509;2290049;2290063;2290132;2290176;2290131;2289639;2290050;2290077;2290283;2290284;2290058;2290177;2290084;2290099;2290048;2290133;2290054;2290130;2290046;2290047;2290053;2290175;2290075;2315733;2311437;2315742;2315753;2315757;2298509;2314002;2312739;2314021;2315698;2315705;2315707;2315754;4143196;6480464;6484113;6907045;7240710;7248688 7539157;16616089;16337971;16222447;16152783;17045251;16796407;16761189;15796164;15777748;15557468;16078565;17195944;17916181;16538171;11435457;17703359;12460460;18237448;17667965;12470426;17235585;17105443;16541433;17518537;17565840;17031406;17918178;10654915;15792116;18265979;18094967;17352235;17899301;16091761;18427836;18410517;19120316;15803113;12658358;18068525;18090083;18287563;19820199;20004692;17851466;17075777;9254659;19239902;22419868 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625471;14625298;14625033;14594800;14585083;14573612;14557654;14534720;14533029;14530312;14514471;14512182;14506242;12963547;12952224;12923319;12907599;12883671;12880639;12874203;19270351;21233219;21173302;21490157;19404646;21167737;21286777;21321117;22771321;22669972;22706245;21762074;21808135;19634684;21752354;20470393;20553075;20618494;22211869;22609371;20393185;20842669;20936988;16463650;20352431;20534173;10918185;11003656;11495919;11877055;14694156;15938782;16385451;16736614;18088463;18679533;18718055;18844072;19010354;19020991;19067240;19077906;19170196;19173804;19181929;19241965;19263494;19458913;19509307;19521670;19561642;19572057;19625176;19628789;19669200;19680267;19692168;19692467;19698994;19716115;19718569;19723039;19726736;19737931;19751723;19758996;19759548;19773279;19788921;19789190;19810143;19811416;19817952;19890662;19895798;19911702;19926197;19927299;19937732;19940360;19941645;19950259;19954064;19966861;20052288;20064083;20074157;20101431;20106900;20137575;20164160;20181888;20204402;20219325;20222173;20237496;20359312;20360470;20378664;20380574;20385987;20394629;20408337;20416077;20438363;20453000;20501759;20547950;9681877;21430781;21081533;21324892;21530489;21557277;20658220;20951677;19798106;20396760;20396799;20505730;20187936;20620960;20205514;16750039;20558744;20438666;21041692;20737708;20666744;19766542;19913121;20572163;20628086;20813889;20140262;20568250;20800603;20802294;20819778;20822933;20876301;20953611;20959405;21048031;21049406;20694011;20301287;20682001;21076068;20935634;20981796;16344560;21741956;21103345;12753742;20947025;21196076;21131755;21485506;21257927;21852034;21036138;19593445;16124644;18800686;22702044;23235765;10068040;22726303;20353032;22036455;22425739;22806078;22815944;21390503;21691772;21910009;21912376;22084312;22199270;20629322;21454681;21468569;20673483;21250890;21354149;21087335;21526201;7542559;21107705;21317766;21526501;21757675;21864388;21359408;21550977;21625619;21518761;21382479;23662689;22677152;22842170;21557211;23326385;23326448;21549565;21792914;21145805;21466843;21729539;21961589;21651830;21940365;21971214;22183068;18029348;21516345;21706480;21619451;21803845;20934723;21806408;21885602;22042271;22237435;21613217;22065776;23618817;22027769;22252758;22508480;22752343;22898262;23364796;23434371;23524443;22364882;21120501;21793106;21869830;22076446;22095627;22147197;22182632;22197557;22207003;22285488;22344564;22492046;22438247;20193111;18727868;21906983;21917312;21717192;22186140;10462485;21271302;21864851;22194871;22299671;22398398;22499988;22649200;22698280;20726226;22386066;22352690;23240581;23327061;19826071;22422199;12372427;22331638;22645131;22670178;22683265;7859281;11035039;11773067;12702723;22357491;23330016;23667901;23697029;22173501;20085233;21963094;21988832;22946667;23053964;23326557;23234803;23322903;22992806;23033661;22622132;23338968;23372841;18220834;19812265;20012528;20638642;20960177;22631677;22805310;22891283;9199966;23153021;23114924;23166734;21528407;23065220;23251661;23280017;23499736;23152563;21879377;22864571;23333919 355 H7C5Z8;Q5T9P1 AB209361;ABBA01021950;AF061978;AJ279011;AJ279012;AJ279013;AJ509179;AJ509180;AJ509181;AJ509182;AK290978;AK311164;AK311424;AK311499;AL157394;AMYH01002934;AY450925;AY495076;BC012479;CH471066;CR450307;D31968;DA759225;DB284727;EU481974;FJ373045;FJ373046;FM246457;FM246458;FM246459;M67454;NG_009089;NM_000043;NM_152871;NM_152872;NR_028033;NR_028034;NR_028035;NR_028036;S78781;X63717;X83490;X83491;X83492;X83493;X89101;Z47993;Z47994;Z47995;Z66556;Z70519;Z70520 AAA63174;AAC16237;AAD14292;AAH12479;AAR08906;AAS76663;ABM85601;ACC91884;ACP28876;ACP28877;BAA20850;BAD92598;BAF83667;CAA45250;CAA61473;CAA88031;CAA88032;CAA88033;CAA94430;CAA94431;CAC35539;CAC35540;CAC35541;CAD48929;CAD48930;CAD48931;CAD48932;CAG29303;CAR92543;CAR92544;EAW50147;EAW50148;EAW50149;EAW50150;EAW50151;EAW50152;NP_000034;NP_690610;NP_690611;P25445 Hs.244139 1657299;1668449;1684916;1789048;1790077;1790079;1790081;1790083;1790085;1790087;1790089;1790091;1795064;1796974;2166095;5015885;5118065;5118073;5118075;5120624;5120626 D10S2281;G65659;GDB:362780;GDB:362783;GDB:362785;GDB:681362;GDB:682143;GDB:682147;PMC96480P1;RH11007;RH91808;SHGC-30908;TNFRSF6_1709;csnptnfrsf6-pcr2-1;csnptnfrsf6-pcr3-1;csnptnfrsf6-pcr4-1;csnptnfrsf6-pcr5-1;csnptnfrsf6-pcr6-1;csnptnfrsf6-pcr7-1;csnptnfrsf6-pcr8-1;csnptnfrsf6-pcr9-1 ALPS1A;APO-1;APT1;CD95;FAS1;FASTM;TNFRSF6 APO-1 cell surface antigen;CD95 antigen;Delta Fas/APO-1/CD95;FAS 827dupA;FASLG receptor;Fas (TNF receptor superfamily, member 6);Fas AMA;Fas antigen;OTTHUMP00000020045;OTTHUMP00000020046;OTTHUMP00000020051;OTTHUMP00000217569;TNF receptor superfamily member 6;apo-1 antigen;apoptosis antigen 1;apoptosis-mediating surface antigen FAS;tumor necrosis factor receptor superfamily member 6;tumor necrosis factor receptor superfamily, member 6 APPROVED protein-coding ENSG00000026103 11920 00609 134637;601859 REVIEWED 1606223 FASTKD1 FAST kinase domains 1 2 2 2 q31 164005180 164049281 - 170094513 170138568 - 170386259 170430424 - 6480464 16344560;14702039;12477932;11347906;8889548;21963094;22505724 79675 C9JMM4;C9JTP4;E7EW60;Q53R41 AB058703;ABBA01014890;AC093899;AK025554;AK055892;AK074302;AK130797;AK225293;AL832058;AMYH01011247;AMYH01011248;BC017950;BC032687;BC035241;BM675885;CH471058;DA650481;DA920754;NM_001281476;NM_024622;NR_104020 AAH17950;AAH32687;AAY24118;ADZ16033;BAB15168;BAB47429;BAB71037;BAB85043;EAX11271;EAX11272;EAX11273;EAX11274;NP_001268405;NP_078898;Q53R41 Hs.529276 1644611;2120399 D2S2036;SHGC-30774 FLJ21901;KIAA1800 FAST kinase domain-containing protein 1;OTTHUMP00000207008;OTTHUMP00000207010 protein-coding ENSG00000138399 26150 07969 VALIDATED 1345655 FAT1P1 FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1 20 20 20 p12.2 10939203 10939708 - 10817132 10817837 - 10869233 10869738 - 170513 ABBA01053939;AL050403;AMYH01011711;NG_001036 dJ697P8.1 pseudo 16582 INFERRED 1605699 FASTK Fas-activated serine/threonine kinase The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008] 7 7 q35 150404641 150408884 - 150773708 150777970 - 6480464 17474147;7544399;19058789;17592127;17135269;16341674;16189514;15572676;15489334;15110758;14702039;12690205;12477932;8889548;8125298;7757816;20363972;20877624;16344560;22939624 10922 G3V1R6;Q14296 AACC02000108;AB209783;ABBA01035167;AC010973;AK023141;AK223132;AK292232;AL713798;AMYH01018142;BC000377;BC006386;BC011770;BC039026;BM799420;BU682096;CH471173;DA253544;F02420;NM_001258461;NM_006712;NM_033015;X86779 AAH00377;AAH11770;AAH39026;ABM83848;ABM87170;ABW03532;BAB14425;BAD93020;BAD96852;BAF84921;CAA60448;CAH10616;EAL24499;EAL24500;EAW54033;EAW54034;EAW54035;EAW54036;EAW54037;EAW54038;EAW54039;EAW54040;EAW54041;EAW54042;EAW54043;NP_001245390;NP_006703;NP_148936;Q14296 Hs.647094 1769238;2137092;2148951;2191809 D7S469E;MARC_8201-8202:996688395:1;RH71298;STS-X62137 FAST FAST kinase;OTTHUMP00000213278;OTTHUMP00000213305;OTTHUMP00000213306;OTTHUMP00000213307;fas-activated serine/threonine kinase APPROVED protein-coding ENSG00000164896 24676 07368 606965 REVIEWED 1604298 FASTKD3 FAST kinase domains 3 This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 5 5 5 p15.31 7900317 7910192 - 7912272 7922115 - 7859272 7869150 - 6480464 12477932;19913121;20628086;15342556;16344560;20869947;21942715 79072 D6RAR6;D6RB04;D6RC07;D6RHY4;Q14CZ7 ABBA01020576;AC010346;AF161354;AK026927;AMYH01014892;BC001295;BC113563;BC143517;BC143518;BG613096;BP317791;BQ921348;CH471102;DA297400;NG_033101;NM_024091;NR_036553;NR_073608 AAF28914;AAH01295;AAI13564;ADR83087;EAX08094;EAX08095;NP_076996;Q14CZ7 Hs.653162 1648403;1690352;1740175;2139331 D5S1941;G06190;RH65313;RH91136 FLJ23274;MGC142123;MGC5297 FAST kinase domain-containing protein 3;OTTHUMP00000161656 protein-coding ENSG00000124279 28758 10083 REVIEWED 1347691 FASN fatty acid synthase The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008] 17 17 q25 77629503 77649395 - 80036214 80056106 - 1580863;2317317;2317204;2317309;6480464;6907045 15715522;19181734;17882277 7567999;17220478;18029348;12815048;19467222;19358283;19318631;19300427;19252981;19032940;19027726;18955444;18838960;18830996;18820672;18802406;18796435;18682509;18682402;18660489;18635971;18528705;18420801;18410580;18281512;18281474;18239060;18211286;17847090;17687193;17662476;17631500;17618296;17618104;17492427;17188392;17081983;17081065;16964243;16894240;16806233;16644689;16582625;16215233;16175090;15897909;15669079;15523670;15507492;15489334;15302935;15254710;15235125;15220220;15113941;15047835;14689581;12939396;12882974;12839976;12646257;12531699;12515624;12477932;12213084;12060737;11790787;11756679;11248039;11034606;11018265;10769045;9356448;8986532;8662758;8022791;7835891;7595075;2669958;1044453;600212;17620599;19542561;22586326;16189514;19913121;20356977;20602615;20628086;20679621;18022563;19083124;19471962;19517019;19543203;19621387;19728851;19851294;19876008;19885560;19893031;20067991;20126469;20132826;15050917;17488603;20606731;20299470;20228782;12689621;18455495;20511185;20546348;8944226;20691427;20877624;20965718;20811782;21044743;22723001;22939629;20657182;20691246;23084401;23135268;23184937;23269672;16335966;22425483;22863883;22990118;22786746;16196087;21757596;19135240;21325951;21641044;21908709;21442130;21646813;21922386;15161933;20360068;21081666;21726077;22370483;21252943;16009940;21877200;22127986;22490687;15852347;18781797;20972266;21726808;21890473;21906983;21963094;21987572;22135723;22178446;19847302;22145905;21970855;22536838;22266115;23142364;23208675;21145461;21319273;22771636;15576338;23419663;22412018;23317220;23402259;23455922;23427160;16263121;19738201;19805454;21360678;21988832;22053931;23000965;23438482;19380743;22505724;22653145;23040493;23306391 2194 J3KTF0;Q96IT0 AB209988;ABBA01019663;AC135056;AMYH01008730;AY451392;BC007267;BC007305;BC007909;BC014631;BC014634;BC021544;BC063242;CH471099;NM_004104;S80437;U26644;U29344;U52428 AAA73576;AAB35516;AAC50259;AAC50536;AAH07267;AAH07909;AAH14631;AAH14634;AAH63242;AAS09886;BAE06070;EAW89745;NP_004095;P49327 Hs.83190 1733380;1736927;2107081 D17S1256;D17S1571;FASN_7242 FAS;MGC14367;MGC15706;OA-519;SDR27X1 fatty acid synthase;short chain dehydrogenase/reductase family 27X, member 1 APPROVED protein-coding ENSG00000169710 3594 02567 600212 REVIEWED 1602469 FASTKD5 FAST kinase domains 5 20 20 20 p13 3189124 3202490 - 3075165 3088532 - 3127165 3140532 - 6480464 16189514;14702039;12477932;11347906;21822266;21903422;21890473;21906983;22797925 60493 Q7L8L6 AB058695;ABBA01053812;AK023211;AK027215;AK301748;AL121891;AMYH01011673;AW182833;BC007413;BC011856;CH471133;NM_021826 AAH07413;AAH11856;ACE87117;BAB14464;BAB15696;BAB47421;BAG63210;EAX10548;NP_068598;Q7L8L6 Hs.741168 1776427;2114020;2128851;5015861;5037552;7185938 AB062957;D10S16;D20S1109;D20S1116;D8S2279 FLJ13149;FLJ58294;dJ1187M17.5 FAST kinase domain-containing protein 5;OTTHUMP00000030082 protein-coding ENSG00000215251 25790 07813 614272 VALIDATED 1346617 FAUNA@ FAU neighboring area cluster 9286704 2198 3598 1342504 FAT4 FAT atypical cadherin 4 4 4 4 q28.1 123617849 123794372 + 126457017 126632373 + 126237567 126414087 + 6480464 22484628;19048595;16865240;16713569;15345747;15003449;14702039;19734545;20351715;20379614;21875946;23319386 79633 B3KU84;Q6V0I7 AB075518;ABBA01044776;ABBA01044777;AC079835;AC092629;AC098865;AK026709;AK091292;AK096646;AK291461;AL713715;AMYH01014505;AY356402;CH471056;DT932755;DT932756;NM_024582 AAR13653;BAB15534;BAE45762;BAF84150;BAG52326;BAG53346;CAD28510;EAX05203;NP_078858;Q6V0I7 Hs.563205 1657732;1664355;1711234;1715191;1717301;1725485;1848884;1851943;2107083;2136138;2136911;2152765 A004Y33;D4S288;FATJ__7643;RH119139;RH119846;RH122065;RH36029;RH47713;SHGC-24083;SHGC-59711;SHGC-67861;SHGC-89043 CDHF14;CDHR11;FAT-J;FATJ;FLJ23056;FLJ77878;NBLA00548 FAT tumor suppressor homolog 4;OTTHUMP00000164132;OTTHUMP00000194778;cadherin family member 14;cadherin-related family member 11;fat-like cadherin FATJ;fat-like cadherin protein FAT-J;hFat4;protocadherin Fat 4;putative protein product of Nbla00548 APPROVED protein-coding ENSG00000196159 23109 07637 612411 VALIDATED 1342760 FAUP1 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1 18 18 18 q22.3 68924394 68924984 - 70208099 70208512 - 72057058 72057648 - 19123937;7642109 140623 ABBA01056325;AC008021;AMYH01009096;NG_001306;U02523 1676392;1725609 G62092;RH93189 FAU1P;RPS30_2_1613 pseudo 17984 INFERRED 732531 FAT1 FAT atypical cadherin 1 This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008] 4 4 q35 187745931 187881981 - 187508937 187644987 - 1580863;6480464 8586420;19328558;19126244;17938632;17895925;17500054;17325662;17081983;16979624;16402135;15922730;15744052;15342556;15146197;12477932;10737800;9199196;9182820;8889548;15148305;19893579;19033385;21552555;19131340;22959770;23314748;21680732;21617878;21139048;21890473;21906983;22347407;22194967;22116550;21963094;23354438;23438482;22505724 2195 D6RCE4;D6RHE6;H0Y8F5;H0Y9C8;H0Y9H4;Q14517 ABBA01070565;ABBA01070566;ABBA01070567;AC107050;AC110761;AMYH01014783;BC012432;BF327563;BP363658;BU729008;CD642620;CH471056;CN289962;D88798;NM_005245;X87241 BAA21568;CAA60685;EAX04614;EAX04615;EAX04616;NP_005236;Q14517 Hs.481371 1660660;1688364;1705712;1707092;1728157;1767218;2110401;2147316;2170292;2170713 D4S1295;FAT__7639;G63501;RH93502;SHGC-51162;SHGC-67715;SHGC-81304;SHGC-83441;STS-X87241;WI-14904 CDHF7;CDHR8;FAT;ME5;hFat1 FAT tumor suppressor 1;FAT tumor suppressor homolog 1;OTTHUMP00000218016;cadherin ME5;cadherin family member 7;cadherin-related family member 8;cadherin-related tumor suppressor homolog;protein fat homolog;protocadherin Fat 1 APPROVED protein-coding ENSG00000083857 3595 02986 600976 REVIEWED 1317335 FASTKD2 FAST kinase domains 2 This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008] 2 2 2 q33.3 201391543 201422344 + 207338617 207365475 + 207630112 207660913 + 1580863;6480464;7240710 18771761;16344560;15815621;15489334;14702039;12477932;10931946;10231032;21444724;20966902;20877624;20186120;21139048;21906983;23459443 22868 C9JPI6;Q9NYY8 AB023188;ABBA01062667;ABBA01062668;ABBA01062669;AC008269;AF223470;AK001315;AK001516;AK021557;AK127714;AL833877;AMYH01011441;BC001544;CH471063;DA021045;DA475994;DA756417;NG_008984;NM_001136193;NM_001136194;NM_014929 AAF64145;AAH01544;AAX93275;ACE87262;ADZ15471;BAA76815;BAA91617;BAG50930;CAD38734;EAW70394;EAW70395;EAW70396;EAW70397;EAW70398;NP_001129665;NP_001129666;NP_055744;Q9NYY8 Hs.5930;Hs.722628 1649819;2172459;2184277;5037552 D8S2279;RH45208;RH68229;WI-18179 KIAA0971 FAST kinase domain-containing protein 2;OTTHUMP00000163838;OTTHUMP00000206508;OTTHUMP00000206509 APPROVED protein-coding 29160 13825 220110;612322 REVIEWED 2305065 FAUP2 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 2 3 3 q26.33 179394011 179394307 - 180960393 180960689 - 19123937 100271125 ABBA01058509;AC083904;AMYH01013697;NG_010095 RPS30_1_440 pseudo 36535 INFERRED 732170 FAT2 FAT atypical cadherin 2 This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 146965062 147029916 - 150863847 150928698 - 150883653 150948505 - 68762;1580863;6480464 9693030 15491607;17900869;16335952;12477932;10835267;10716726;10380929 2196 H0YBK2;Q6PIA2;Q9NYQ8 AB011535;AB160984;AB177851;ABBA01026262;AC011337;AC011374;AC034205;AF231022;AK308619;AL157443;AMYH01015713;BC039143;CH471062;NM_001447 AAF61928;AAH39143;BAA32463;BAD08246;BAD66829;CAB75663;EAW61673;NP_001438;Q9NYQ8 Hs.591255 1750479;1780980;1785380;2108087;2126299 Cda1id10;FAT2__7640;SHGC-111788;SHGC-141492;bac5571T CDHF8;CDHR9;HFAT2;MEGF1 FAT tumor suppressor homolog 2;OTTHUMP00000160621;cadherin family member 8;cadherin-related family member 9;multiple EGF-like domains protein 1;multiple epidermal growth factor-like domains 1;multiple epidermal growth factor-like domains protein 1;protocadherin FAT2;protocadherin Fat 2 APPROVED protein-coding ENSG00000086570 3596 05041 604269 REVIEWED 2305064 FAUP3 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 3 4 4 q35.2 186337072 186337428 + 189027712 189028068 + 19123937 100271126 ABBA01070588;AC108073;AMYH01014789;NG_010102 RPS30_1_539 pseudo 36970 INFERRED 1353364 FATE1 fetal and adult testis expressed 1 This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010] X X X q28 151132863 151140021 + 150635164 150642322 + 150884508 150891666 + 737633;1580863;6480464 12477932 11256614;16713569;16381901;16189514;15489336;15489334;14702039;12811541;11694338;11134355;11076863;12865919;15580283;17761949 89885 H7C1I5;Q969F0 ABBA01037253;AF002992;AF249872;AMYH01023225;AY101182;BC022064;CH471169;NG_016398;NM_033085 AAH22064;AAK69024;AAM48744;ABM83344;ABM86558;CAL38375;EAW99408;NP_149076;Q969F0 Hs.301960 1702236 DXS7079 CT43;FATE BJ-HCC-2 antigen;OTTHUMP00000025877;cancer/testis antigen 43;fetal and adult testis expressed transcript protein;fetal and adult testis-expressed transcript protein;tumor antigen BJ-HCC-2 APPROVED protein-coding ENSG00000147378 24683 02346 300450 REVIEWED 1351260 FAT3 FAT atypical cadherin 3 11 11 11 q14.3 89389818 89934254 + 91724910 92269284 + 92085262 92629636 + 625453;1580863;6480464 11811999 15744052;15146197;14702039;12477932;20379614;22939629;21875946 120114 E9PQ73;F5H817;G5EA25;Q8TDW7 AB076400;ABBA01040055;ABBA01040056;ABBA01040057;AK054903;AK091570;AK126620;AK127104;AMYH01003946;AMYH01003947;AP000722;AP000805;AP002514;AP003171;AP003718;BC016722;CN295176;NM_001008781 AAH16722;BAB86868;NP_001008781;Q8TDW7 Hs.98523 1338724;1338815;1341692;1655805;1656770;1670654;1675397;1709216;1710996;1715501;1721807;1731545;1737639;1738181;1738183;1743271;1743277;1755757;1767569;1852239;1856609;2156798;2163031;2179911;2183491;5037552;7187960 119XF8;D11S1039;D11S1056;D11S1071;D11S1159;D11S1257;D11S1332;D11S1995;D11S3237;D11S3812;D11S3814;D11S3995;D11S873;D8S2279;G30476;G59926;GDB:313875;GDB:313995;RH120974;RH69779;RH91365;SHGC-142605;SHGC-34004;SHGC-84876;SHGC-85792;STS-R01006 CDHF15;CDHR10;FLJ30341;KIAA1989 FAT tumor suppressor homolog 3;OTTHUMP00000205760;cadherin family member 15;cadherin-related family member 10;hFat3;protocadherin Fat 3 APPROVED protein-coding ENSG00000165323 23112 612483 VALIDATED 1321696 FBF1 Fas (TNFRSF6) binding factor 1 17 17 17 q25.1 70496670 70527169 - 71418213 71448714 - 73906618 73937119 - 737633;6480464 12477932 21145461;18838552;14702039;11347906;10978533;16169070;16189514;21832049 85302 J3KPL7;K7EL64;K7ENL6;K7EPQ1;K7ESG2;Q8TES7 AB354594;ABBA01028767;AC087289;AK057261;AK074045;AMYH01008635;BC007570;BC012332;BC023549;CH471099;NM_001080542 AAH07570;AAH12332;AAH23549;BAB71400;BAB84871;BAG71501;EAW89342;NP_001074011;Q8TES7 Hs.720068 2169779;2171351 RH16429;SHGC-34016 Alb;FBF-1;FLJ00103;FLJ13996;KIAA1863 Fas binding protein 1;albatross;fas-binding factor 1;protein albatross protein-coding ENSG00000188878 24674 VALIDATED 2303694 FBLL1 fibrillarin-like 1 5 5 5 q34 163991936 163992990 + 167889088 167890217 + 167956582 167957639 + 6480464 21145461;22990118;21110914;22178446;21628590 345630 A6NHQ2;R4GMW7 ABBA01044123;AC020894;AMYH01015796;BX115749;CH471062;CK906195;DB496895;NR_024356 A6NHQ2;EAW61506 Hs.166262 pseudo 35458 VALIDATED 1347110 FAXC failed axon connections homolog (Drosophila) 6 6 6 q16.2 100364951 100441701 - 99835257 99904252 - 99720793 99797531 - 737633;6480464 12477932 15489334;14702039;14574404;8889548 84553 Q5TGI0;Q9BR58 ABBA01014483;ABBA01014484;ABBA01014485;ABBA01014486;AK055101;AK057793;AK096480;AL034371;AMYH01016537;BC004869;BC006515;BC011583;BQ883579;CH471051;CK299578;NM_032511 AAH04869;AAH06515;AAH11583;ADZ15366;BAB71576;BAG53301;EAW48483;EAW48484;EAW48485;EAW48486;EAW48487;NP_115900;Q5TGI0 Hs.573245 1659056;1770230;2113824;2130055;2145890;2165504;2173607;5015961;5022322;5037552 A004C48;A008S27;AB060249;D11S2560;D15S1477;D6S2080;D6S2138;D8S2279;RH12685;WI-16366 C6orf168;FLJ30539;MGC2817;dJ273F20 OTTHUMP00000016889;failed axon connections homolog;hypothetical protein LOC84553;uncharacterized protein C6orf168 APPROVED protein-coding 20742 12866 VALIDATED 1351680 FAU Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Jul 2008] 11 11 q13 64644678 64646236 - 64888099 64889672 - 6480464 15189156;8395683;15883184;12588972;8706699;15635413;15543234;15489334;15342556;14702039;12660817;12477932;9582194;8722009;8406491;7821789;1326960;16169070;19671159;19830698;21145461;22863883;21550398;22939629;16196087;20360068;21139048;21628590;22174317 2197 E9PM49;E9PMS9;E9PR30;J3KN89;P35544;P62861 AA449261;ABBA01024136;AK026639;AMYH01003716;AP003068;AY398663;BC033877;BC051834;BP296770;BU602831;CH471076;CR541974;D28403;NM_001997;X65921;X65923 AAH33877;AAQ87877;ABM83335;ABM86548;BAA05769;BAB15515;CAA46714;CAA46716;CAG46772;EAW74353;NP_001988;P35544;P62861 Hs.387208 1650582;1676392;1725609;2154849;5126495 D11S1963;FAU;G62092;RH11613;RH93189 FAU1;FLJ22986;Fub1;Fubi;MNSFbeta;RPS30;S30;asr1 40S ribosomal protein S30;FAU-encoded ubiquitin-like protein;FBR-MuSV-associated ubiquitously expressed;Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived);OTTHUMP00000230421;OTTHUMP00000230422;OTTHUMP00000230423;OTTHUMP00000230424;OTTHUMP00000230425;OTTHUMP00000230427;monoclonal nonspecific suppressor factor beta;ribosomal protein S30;ubiquitin-like protein fubi and ribosomal protein S30;ubiquitin-like-S30 fusion protein APPROVED protein-coding 3597 00002 134690 REVIEWED 1319694 FAXDC2 fatty acid hydroxylase domain containing 2 5 5 5 q31-q32 150275538 150307720 - 154178245 154210406 - 154198052 154230213 - 6480464 17081983;15489334;14702039;12477932;10843801 10826 B4DIE1;E5RFJ7;E5RH66;E5RH84;E5RIK6;E5RJN8;E5RJQ9;E5RK01;E5RK16;Q96IV6 ABBA01026222;AC112169;AF159165;AK023820;AK074245;AK127944;AK295546;AK300938;AL359653;AL359655;AMYH01015730;BC004506;BC007216;CH471062;NM_032385 AAF22611;AAH04506;AAH07216;BAG58453;BAG62567;EAW61629;EAW61630;EAW61631;NP_115761;Q96IV6 Hs.519694;Hs.713175 1666539;1669159 D5S2640;STS-H62475 C5orf4;FLJ13758 OTTHUMP00000225980;OTTHUMP00000225981;fatty acid hydroxylase domain-containing protein 2;hypothetical protein LOC10826;uncharacterized protein C5orf4 APPROVED protein-coding ENSG00000170271 1334 12832 VALIDATED 1345931 FBLN2 fibulin 2 This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 p25.1 13565625 13654923 + 13590625 13679922 + 1580863;6480464 7806230;16713569;14702039;12618961;12477932;11847210;11733994;11531782;11493006;11038354;10934193;10848816;10544250;9887386;9886271;9431988;9214621;9006922;8946175;8737292;8702639;8245130;7500359;19609566;19834535;20083228;20201926;21743496;18985028;22912785;23092984 2199 C9JQS6;F5H1F3;H7BXL0;H7C1A3;P98095;Q86V58;Q9Y3V7 ABBA01025169;ABBA01025170;ABBA01025171;AC090509;AK129883;AK300913;AK304777;AK304827;AL050095;AL080171;AMYH01012995;AY130458;AY130459;BC051690;CB959783;CH471055;FJ695211;NM_001004019;NM_001165035;NM_001998;X82494 AAH51690;AAN05435;AAN05436;BAH13375;BAH14254;BAH14261;CAA57876;CAB43267;EAW64170;EAW64171;NP_001004019;NP_001158507;NP_001989;P98095 Hs.198862 1337983;1669479;2108089;2141010 D3S1516;FBLN2_8342;SHGC-57863;SHGC-76718 FIBL-2;OTTHUMP00000216670;OTTHUMP00000216671;OTTHUMP00000216672;fibulin-2 APPROVED protein-coding ENSG00000163520 3601 00630 135821 REVIEWED 1606792 FBLIM1 filamin binding LIM protein 1 This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 p36.21 15957842 15985671 + 16085255 16113084 + 6480464 19074766;18829455;18528435;17711449;16710414;16531412;16341674;15701922;15671069;15489334;15146197;14757752;14702039;12679033;12496242;12477932;19833732;18029348;22043318;23099104;22246236;23247143;23237804;23645746;22843679 54751 D6R9I4;D6R9V9;D6RA19;D6RAI6;D6RAI8;E7EN81;E7EPI5;E7EWE8;Q5VVD3;Q8WUP2 ABBA01004696;ABBA01004697;ABBA01004698;AF459643;AK027444;AK055259;AL133035;AL450998;AMYH01000274;AY180161;BC019895;BM855570;CH471167;CN278745;NM_001024215;NM_001024216;NM_017556 AAH19895;AAO15549;AAO49012;ABM82656;ABM85833;BAB55115;BAG51492;CAB61365;EAW51750;EAW51751;EAW51752;NP_001019386;NP_001019387;NP_060026;Q8WUP2 Hs.530101 1656826;2184912;5014051;5015619;5015861;5015881;5021872;5022200;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D1S3543;D8S2278;D8S2279;GDB:335751;L18426;WI-14085;sY3084 CAL;DKFZp434G171;FBLP-1;FBLP1;RP11-169K16.5 CSX-associated LIM;MIG2-interacting protein;OTTHUMP00000003118;OTTHUMP00000003119;OTTHUMP00000003120;OTTHUMP00000221650;filamin-binding LIM protein 1;filamin-binding LIM protein-1;migfilin;mitogen-inducible 2 interacting protein;mitogen-inducible 2-interacting protein APPROVED protein-coding ENSG00000162458 24686 09669 607747 REVIEWED 1313628 FBL fibrillarin This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008] 19 19 q13.1 45016938 45028813 - 40325093 40337054 - 1580863;6480464;6907045 1846968;17353931;15494374;17158916;19331828;18292223;17603021;17461797;15635413;15489334;15057824;15009096;14743216;14583623;12490167;12477932;12388758;12373336;12244096;11960984;11835310;11790298;11739535;11509230;10837141;10648622;10518318;9548374;8670859;7626687;2414294;2026646;1731817;1714385;15574333;16169070;9654073;21110914;19913121;20628086;16687569;17498821;17636026;17643375;16157300;16226712;19454010;19095616;21145461;17403666;22939629;15848144;16196087;17314511;18781797;19679658;19928837;20360068;21139048;21890473;21906983;21907836;21963094;22178446;17620599;22354994;22586326;21536856;21628590;15576338;19738201;21282530;22623428;22909121;23000965;23084401;22505724 2091 M0QXC9;M0QXL5;M0R0P1;M0R1H0;M0R299;M0R2B0;M0R2Q4;M0R2U2;P22087 AB451384;ABBA01040734;AC005393;AC006950;AI085380;AK296950;AK308649;AMYH01009794;BC015218;BC019260;BC019609;BG831506;BT006830;BT020144;CH471126;CR457069;M59849;NM_001436;X56597 AAA52453;AAC28913;AAD15623;AAH15218;AAH19260;AAH19609;AAP35476;AAV38946;ABM83240;ABM86443;BAG59496;BAG70198;CAA39935;CAG33350;EAW56925;NP_001427;P22087 Hs.299002 5037552;5037554;5122786;5491621 D8S2279;D8S2282;MARC_26184-26185:1030717529:1;RH66838 FIB;FLRN;RNU3IP1 34 kDa nucleolar scleroderma antigen;34-kD nucleolar scleroderma antigen;RNA, U3 small nucleolar interacting protein 1;rRNA 2'-O-methyltransferase fibrillarin APPROVED protein-coding ENSG00000105202 3599 00617 134795 REVIEWED 1601826 FBLN7 fibulin 7 2 2 2 q13 106100477 106149878 - 112612433 112662262 + 112895962 112945791 + 6480464 19229767;17699513;16344560;14702039;12477932 129804 B8ZZC1;H7BZ65;Q53RD9;Q8IY13 ABBA01005784;ABBA01005785;AC092645;AK094759;AK124067;AMYH01010950;BC035784;BC038242;BC126986;BC126987;CH471245;CR933697;DA201691;NM_001128165;NM_153214 AAH35784;AAH38242;AAI26987;AAI26988;AAY14854;BAC04416;BAG53997;CAI46168;EAW52100;EAW52101;EAW52102;NP_001121637;NP_694946;Q53RD9 Hs.437696 5015619;5037552;5123891 D11S3114;D8S2279;RH36532 DKFZp547D0610;FLJ37440;TM14 FIBL-7;OTTHUMP00000203579;OTTHUMP00000203580;OTTHUMP00000203581;OTTHUMP00000203582;OTTHUMP00000203584;fibulin-7 protein-coding ENSG00000144152 26740 08783 611551 VALIDATED 1318572 FBLN1 fibulin 1 Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008] 22 22 q13.31 44277383 44375678 + 45898719 45997014 + 1598727;1580863;6480464;7240710 14654066 2269669;17353931;18029348;14718574;19109427;18985039;18222970;17062666;16713569;16571622;16303743;16061471;15774544;15528301;15498874;15489334;15231748;14702039;14691454;14635206;12912698;12644824;12477932;12200142;12122015;11850827;11846885;11836357;11829738;11792823;11238726;10591208;10544250;10400671;10318851;10037144;9927660;9811350;9466671;9393974;9299350;9278415;9106159;8839849;8737292;8552629;8354280;8175920;7842734;7806231;7642629;7534784;7500359;2527614;1400330;15990087;16169070;19609566;19693531;20098615;20379614;20405022;8889548;20716560;20967215;21268132;20360068;21078624;21888404;21926180;20451270;22365631;22349089 2192 B1AHL2;B1AHL4;B1AHM4;B1AHM5;B1AHM6;B1AHM7;B1AHM8;B1AHM9;B1AHN3;F8W7M9;H7C1M6;Q8NBH6;Q9UC21 ABBA01007139;ABBA01007140;AF126110;AF217999;AI092723;AK075460;AK075566;AK095988;AK300806;AK316291;AL021391;AMYH01012851;AY040589;BC022497;BX403501;BX424750;BX443677;CB852401;CH471138;CS161042;CS161044;CS161046;CS161048;CS208047;HB867232;NG_023308;NM_001996;NM_006485;NM_006486;NM_006487;U01244;X53741;X53742;X53743;Z95331;Z98047 AAB17099;AAG17241;AAH22497;AAK37822;AAK82945;ABM84973;BAC11705;BAG62463;BAH14662;CAA37770;CAA37771;CAA37772;CAJ30871;CAJ30872;CAJ30873;CAJ30874;CAJ44949;CBF57602;EAW73385;EAW73386;EAW73387;EAW73388;EAW73389;EAW73390;NP_001987;NP_006476;NP_006477;NP_006478;P23142 Hs.24601 1334722;1656400;1681520;1686210;1711576;1711578;1721329;1722505;1725657;1747491;1747493;1747495;1747497;1747499;1774184;1777548;1791560;1850861;2119000;5024445 AL021648;D22S1102;D22S1237;D22S1238;D22S444;G06348;G49289;G49290;G59664;G60177;G62037;G65369;G65370;G65371;G65372;G65373;PMC115182P4;RH15754;SHGC-11380;WIAF-1606 FBLN;FIBL1 OTTHUMP00000199864;OTTHUMP00000199865;OTTHUMP00000199866;OTTHUMP00000199867;OTTHUMP00000214005;fibulin-1 APPROVED protein-coding ENSG00000077942 3600 00629 135820;608180 REVIEWED 731577 FBN1 fibrillin 1 This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008] 15 15 q21.1 46487797 46725210 - 48700503 48937985 - 1580378;1580379;1580380;1300362;1300363;1300361;1300319;1580863;1601144;1601145;6480464;7240710 8882780;12918850;15054843;7762551;8136837;11702223;12598898;12525539;16333834 21840105;21851253;7691719;8188302;3536967;10931876;15165854;15781745;1860873;19639654;19533785;19430350;19396033;19390640;19361604;19353630;19328768;19293843;19182256;19167375;19161152;19159394;19117906;19059503;19037100;19002209;18805282;18795226;18669635;18615205;18471089;18448684;18435798;18412115;18339631;18310266;18278837;18084245;18079676;18062611;18006876;17996480;17984934;17903305;17701892;17680538;17679947;17663468;17657824;17627385;17568394;17492313;17418587;17324963;17293099;17285469;17255108;17253931;17242066;17209430;17158881;17158461;17030689;17024364;16971892;16905551;16880403;16835936;16802364;16765689;16677079;16617303;16540720;16528372;16467653;16222657;16220557;16103519;16096271;16042404;15980072;15861007;15776436;15713466;15657057;15654955;15649891;15569675;15371449;15254584;15241795;15161620;15131124;14730633;14695540;14613297;14586646;12946356;12915484;12807887;12695261;12651868;12590922;12575662;12524050;12511552;12477932;12429739;12429738;12399449;12384286;12203992;12203987;12130535;12122015;11933199;11923248;11854120;11829507;11826022;11748851;11726670;11700157;11524736;11481325;11315929;11108952;10825173;10793130;10694921;10633129;10547375;10504303;10441597;10425041;10359653;10085138;10036187;9886271;9837823;9401003;9362480;9338588;9338581;9254848;9150726;9016526;8988160;8914744;8863159;8702639;8653794;8594563;8568869;8563763;8504310;8430317;8406497;8364578;8281141;8071963;8040326;8004112;7977366;7870075;7738200;7611299;1852208;1852207;1852206;15221638;15161917;1769651;1569206;1301946;19913121;20375004;20628086;20709720;21135753;19941982;20455198;20803651;20564469;20686071;20729124;19119630;19358237;19570982;19573590;19578796;19618372;19725129;19802897;19863550;19889633;19996017;20082464;20085885;20199707;20360993;20379614;20451256;20537417;20547088;20478419;20301510;21063442;20850568;20886638;21034599;20672986;21402694;22876116;21331051;21527992;21617610;20662850;21594992;21594993;21726527;21683322;23124041;21880733;21900206;21936929;21540769;21078624;21211293;21784848;21909107;21976953;22393277;22539873;22219643;21789464;20301293;22262941;22242013;20301299;20301776;22034023;23119075;23133647;22736615;21895641;22782528;22545955;22772377;23104139 2200 F6U495;H0YN80;H0YND0;P35555 AB177801;AB177802;AB177803;AB208840;ABBA01039136;ABBA01039137;ABBA01039138;ABBA01039139;AC022467;AC084757;AC084758;AK304737;AK309616;AMYH01006629;BC094721;BC146854;CH471082;GU143398;L13923;NG_008805;NM_000138;S54426;W81203;X62008;X63556 AAB02036;AAB25244;AAI46855;ACZ58372;BAD16737;BAD16738;BAD16739;BAD92077;BAG65498;CAA45118;CAB56534;EAW77353;EAW77354;NP_000129;P35555 Hs.591133 1336374;1339071;1661020;1708084;1722939;1729149;1729151;1729153;1729155;1729285;1729287;1729289;1729291;1729293;1729295;1741687;1742055;1742057;1744463;1744465;1745793;1747021;1747023;1747025;1747027;1747029;1747031;1747033;1747035;1747037;1747039;1747041;1747043;1747045;1747047;1747049;1747051;1747053;1747055;1747057;1747059;1747061;1747063;1747065;1747067;1747181;1747183;1747185;1747187;1747189;1747191;1747193;1747195;1747197;1747199;1747201;1747203;1747205;1747207;1747209;1747211;1747213;1747215;1747217;1747219;1753899;1853469;1855954;2176970;2184836;2185656;2185930;5037552;5117142 D15S1255;D15S196;D15S992;D8S2279;G17855;G60567;G63892;G63901;G63902;G63904;G64163;G64177;G64179;G64180;G64181;G64182;G64936;G64937;G64942;G64943;G64944;G64946;G64947;G64948;G64949;G64950;G64962;G64963;G64964;G64965;G64966;G64968;G64969;G64970;G64971;G64972;G64973;G64974;G64977;G64995;G65277;G65279;G65281;G65285;G65289;G65290;G65291;G65293;G65294;G65296;G65297;G65298;G65302;G65304;G65305;G65306;G65326;G65327;G65329;G65330;GDB:182088;GDB:190047;GDB:190048;GDB:438900;GDB:455155;GDB:455176;GDB:636540;RH45122;RH45512;SHGC-108124;SHGC-56864;SHGC-81440;STS-R01937;WI-18561 ACMICD;ECTOL1;FBN;GPHYSD2;MASS;MFS1;OCTD;SGS;SSKS;WMS;WMS2 fibrillin 15;fibrillin-1 2289561 BW440_H APPROVED protein-coding ENSG00000166147 3603 00618 102370;129600;134797;154700;184900;604308;608328;614185 REVIEWED 733428 FBN2 fibrillin 2 The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008] 5 5 q23-q31 127621500 127901634 - 127593601 127873735 - 1300320;1300364;1580863;6480464;7240710 11285249;11754102 17500595;23060561;8120105;7493032;19506372;19473076;19288010;19006240;18006876;17255108;16835936;15146197;15131124;12750963;12590922;12524050;12477932;12429739;12399449;12180907;12122015;10870517;10825173;10797416;10737800;10504303;10359653;9737771;8900230;7744963;1852206;21851253;20404337;19913121;20628086;12429738;15044481;15231748;19469909;19553259;20195245;20201926;22832960;15717329;21998595;20301560;23000965;23133647;22190034;22268729 2201 D6REJ2;D6RJI3;E9PHW4;P35556 AB209735;ABBA01068869;ABBA01068870;ABBA01068871;AC025169;AC034235;AC113387;AF193046;AK300440;AMYH01015604;BC040623;BF368029;BG009811;BX343658;CD243435;CH471062;CN300888;CN300893;CN300894;CN300904;CN481490;NG_008750;NM_001999;U03272;X62009 AAA18950;AAG22474;ACX32323;BAD92972;BAG62163;CAB56757;EAW62388;EAW62389;EAW62390;EAW62391;NP_001990;P35556 Hs.519294 1663026;1663460;1725651;1741685;1762485;1780638;1847922;1855660;2124827;2143586;2149426;2152968;2159616;2191541;5491798 D5S1544;D5S1733;D5S2551;D5S2610;D5S2652;FBN2;G10669;G62035;GDB:182087;MARC_26144-26145:1030379236:1;RH45095;RH65083;SHGC-146305;WI-18592;bac51488S CCA;DA9 OTTHUMP00000223149;fibrillin 5;fibrillin-2 APPROVED protein-coding ENSG00000138829 3604 00416 121050;612570 REVIEWED 736145 FBLN5 fibulin 5 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] 14 14 q32.1 91405508 91483788 - 92335755 92414046 - 1300360;69830;1580863;1300318;6480464;7240710 12189163;10428823;11805834 18029348;19251763;19194475;19167375;19015224;18989607;18391951;18341572;18222970;18185537;17581631;17472576;17371835;17255108;17035250;16904068;16837650;16713569;16691202;16374472;16344560;16303743;16153447;15528465;15489334;15342556;15269314;14745449;12975309;12618961;12477932;12111551;11805835;11549288;10640802;21576112;21193390;20599547;20546612;19450918;19570982;19617354;19948975;20007835;20201926;20379614;20599731;19862539;20133342;21290250;22990118;22790990;21519142;21454378;19957551;19767220;21122382;22280367;20301756;22829427;18985028;22685266 10516 G3V2P8;G3V329;G3V3Y2;G3V4U0;G3XA98;H0YJ31;Q9UBX5 AA812956;ABBA01030466;ABBA01030467;AF093118;AF112152;AJ133490;AK074540;AK075147;AK307592;AL049872;AL110148;AL546863;AL590328;AMYH01005955;AY358898;BC022280;BP338841;BX248290;CH471061;CQ783216;CR457140;CS161058;DB263961;NG_008254;NM_006329 AAC62107;AAD41768;AAH22280;AAQ89257;BAG51970;BAG52073;CAB38568;CAD62618;CAF86416;CAG33421;CAJ30879;EAW81465;EAW81466;EAW81467;NP_006320;Q9UBX5 Hs.332708 1713277;1753643;2109299;2129336;2191745 D14S1304;FBLN5_9125;MARC_6365-6366:996689692:1;RH120630;SHGC-107516 ADCL2;ARCL1A;ARMD3;DANCE;EVEC;FIBL-5;FLJ90059;UP50 OTTHUMP00000245160;OTTHUMP00000245161;OTTHUMP00000245162;developmental arteries and neural crest EGF-like protein;developmental arteries and neural crest epidermal growth factor-like;fibulin-5;urine p50 protein APPROVED protein-coding ENSG00000140092 3602 05204 219100;604580;608895;614434 REVIEWED 1350241 FBN3 fibrillin 3 This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. [provided by RefSeq, Jul 2008] 19 19 p13 8036287 8118385 - 8130287 8212385 - 1580863 19192405;17785364;15221638;15203218;15146197;14962672;14702039;11941487;11347906;19692420;20200332;20855553;20630504;20970500;21411746;12477932;21900206;22301903 84467 M0QXL8;M0R2Q5;Q75N90 AB053450;AB177797;AB177798;AB177799;AB177800;ABBA01010860;ABBA01010861;ABBA01010862;ABBA01010863;ABBA01010864;ABBA01010865;AC008946;AC022146;AI341180;AK000036;AK074501;AK095563;AK096539;AK131282;AMYH01009422;AMYH01009423;AY165863;AY165864;AY165865;BC153882;CD634017;CH471139;CN369190;NM_032447 AAI53883;AAO18145;AAO18146;AAO18147;BAB47408;BAD16733;BAD16734;BAD16735;BAD16736;BAD18457;BAG53085;BAG53318;EAW68946;EAW68947;EAW68948;NP_115823;Q75N90 Hs.370362 1338351;1339586;1659282;1766979;2107085;5015404;5015861;5020740;5024413;5037552;7185473;7185938 D10S16;D13S1222;D19S884;D19S922;D8S2279;FBN3__7645;L17705;L17809;L17877;SHGC-152528 KIAA1776 fibrillin-3 APPROVED protein-coding ENSG00000142449 18794 10538 608529 REVIEWED 732425 FBP2 fructose-1,6-bisphosphatase 2 This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 67762024 67797107 - 96360823 96395896 - 97321002 97356075 - 1580863;2302851;2302970;6480464;6907045 4353083;11440903 9678974;18214967;16213487;15489334;15164053;12477932;10773464;9282826;16169070;19893584;20800603 8789 O00757;Q9UMR0 ABBA01043640;AJ238481;AJ238482;AJ238483;AJ238490;AL161728;AMYH01021530;BC113632;BC117477;CH471174;CR536483;NM_003837;Y10812 AAI13633;AAI17478;ADR83143;CAA71772;CAB53359;CAB53366;CAB58560;CAB58561;CAG38722;EAW92616;NP_003828;O00757 Hs.61255 2135967;2144821;2172921 070XB11;RH41808;STS-AA025150 MGC142192 D-fructose-1,6-bisphosphate 1-phosphohydrolase 2;FBPase 2;OTTHUMP00000021696;fructose bisphosphatase 2;fructose-1,6-bisphosphatase isozyme 2;hexosediphosphatase;muscle fructose-bisphosphatase APPROVED protein-coding ENSG00000130957 3607 04322 603027 REVIEWED 2303695 FBRSL1 fibrosin-like 1 12 12 12 q24.33 132766852 132861533 + 131577230 131671848 + 133067157 133161774 + 6480464 10997877;12477932;19851445;21890473;22325352 57666 J3KN27;Q9HCM7 AB046765;ABBA01012384;ABBA01012385;ABBA01012386;AC079031;AC131212;AF490258;AMYH01004913;AMYH01004914;AMYH01004915;AMYH01004916;AMYH01004917;AMYH01004918;AMYH01004919;BC013284;BC034807;BU616646;NM_001142641;XM_003403652 AAH13284;AAO85466;BAB13371;NP_001136113;Q9HCM7;XP_003403700 Hs.411138;Hs.656668 1857147;2152843 A005Q05;SHGC-57781 KIAA1545 AUTS2-like protein;HBV X-transactivated gene 9 protein;HBV XAg-transactivated protein 9;OTTHUMP00000237529;fibrosin-1-like protein protein-coding ENSG00000112787 29308 VALIDATED 1313599 FBXL14 F-box and leucine-rich repeat protein 14 Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 12 12 12 p13.33 3282418 3311437 - 1545420 1573592 - 1675159 1703331 - 737633;1580863;6480464 12477932 15520277;15489334;21145461;19955572;17207965 144699 Q8N1E6 ABBA01048823;AC004671;AC005182;AMYH01004173;AMYH01004174;BC028132;CH471116;NM_152441 AAH28132;ADQ31776;EAW88928;EAW88929;EAW88930;NP_689654;Q8N1E6 Hs.367956 1670594;1688765;1788774;2130620 D12S2131;RH11225;RH133478;WI-20556 Fbl14;MGC40195 F-box/LRR-repeat protein 14;OTTHUMP00000115427 APPROVED protein-coding ENSG00000171823 28624 10949 609081 VALIDATED 735552 FBP1 fructose-1,6-bisphosphatase 1 Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008] 9 9 q22.3 96405236 96441624 - 97365415 97402531 - 1601165;1580863;1300048;2302970;2301230;2302851;6480464;6907045;7240710 7763253;11440903;14342527;4353083 9282826;9382095;8387495;16169070;7558035;18029348;18978678;18780768;18660489;18460190;18375435;16344560;16189514;15965961;15489334;15164053;12507293;12477932;10222032;9380240;8530070;8382525;8135811;8125298;7809062;21044950;22057438;7589895;2842796;2164670;1846613;19259699;16275660;19505453;19626708;19881551;20096900;16672220;16442285;18650089;21209200;21900206;22039417;21988832;23453623;22120740;22517657;23251661 2203 P09467;Q2TU34;Q5VZC3 ABBA01043635;ABBA01043636;ABBA01043637;ABBA01043638;ABBA01043639;ABBA01043640;AF073475;AK223395;AK292199;AK316583;AL161728;AMYH01021531;AY544122;AY866483;BC012927;CH471174;D26054;D26055;D26056;DA962803;HB907234;HB964552;HC964643;HD021962;L10320;M19922;NG_008174;NM_000507;NM_001127628;U21925;U21931;U47918;U47919 AAA35517;AAA35817;AAA89097;AAA89098;AAC25774;AAC50207;AAH12927;AAT11153;AAW34363;BAA05051;BAA05052;BAA05053;BAD97115;BAF84888;BAG38171;CBF86692;CBG16870;CBV02277;CBV30316;EAW92617;NP_000498;NP_001121100;P09467 Hs.494496 1744965;1758287;2136387;2153477;5120355 GDB:311304;GDB:583921;RH109;SHGC-12730;SHGC-147916 FBP D-fructose-1,6-bisphosphate 1-phosphohydrolase 1;FBPase 1;OTTHUMP00000021694;fructose-1,6- biphosphatase 1;fructose-1,6-bisphosphatase 1;fructose-bisphosphatase 1;growth-inhibiting protein 17 APPROVED protein-coding ENSG00000165140 3606 01973 229700;611570 REVIEWED 1342852 FBRS fibrosin Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008] 16 16 16 p11.2 29616682 29623035 - 30583279 30589632 + 30675778 30682131 + 6480464 17083929;16344560;15489334;14702039;12477932;11733950;10493891;9809749;8889549;7892239;21890473;22325352 64319 F2Z2T6;H3BRE6;J3KNZ9;Q9HAH7 ABBA01042049;AC093249;AJ712524;AK021680;AK022551;AK093045;AK096322;AK298229;AMYH01007497;BG775600;CH471192;DA527487;DC408959;DR761499;NM_001105079 BAB13872;BAB14094;BAG53259;BAG60498;EAW52215;EAW52216;EAW52217;EAW52218;NP_001098549;Q9HAH7 Hs.247186 2181579 G24195 FBS;FBS1;FLJ11618;Fibrosin-1 fibrogenic lymphokine;fibrosin 1;probable fibrosin-1;probable fibrosin-1 long transcript protein APPROVED protein-coding ENSG00000156860 20442 16354 608601 VALIDATED 1313605 FBXL12 F-box and leucine-rich repeat protein 12 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 p13.2 9816349 9825137 - 9781943 9790731 - 9920943 9929731 - 1580863;6480464 12477932;15761153;15520277;15489334;14702039;10531037;16169070;18660753;21145461;17704768;17207965;21163940;21139048;21890473;22505724 54850 K7EIK3;K7EIR3;K7EK37;K7ELM5;K7EPN7;K7EPT3;K7EQJ7;K7EQY7;K7ESL6;Q9NXK8 ABBA01029963;AC008752;AK000195;AK027004;AK093760;AMYH01009463;BC001586;BX647073;CH471106;NM_017703 AAH01586;ADQ32318;BAA91002;BAB15622;BAG52760;EAW84051;EAW84052;EAW84053;NP_060173;Q9NXK8 Hs.12439 1734706;2132113;2132115 D19S698E;SHGC-36605;STS-R38103 FLJ20188;Fbl12 F-box protein FBL12;F-box/LRR-repeat protein 12 APPROVED protein-coding ENSG00000127452 13611 12363 609079 PROVISIONAL 1353687 FBXL13 F-box and leucine-rich repeat protein 13 Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 7 7 7 q22.1 97260460 97523182 - 102240916 102502251 - 102453308 102715288 - 6480464 15820312;15520277;15489334;15342556;14702039;12853948;12477932;9847074;20379614 222235 C9JI88;E7ERH8;Q8N1P0;Q8TCL2 ABBA01057995;ABBA01057996;ABBA01057997;AC005250;AC006477;AC073127;AK095387;AK097537;AL713709;AMYH01017810;AY359238;AY359239;BC020572;BC020575;BC026121;BC031285;BG717734;BP378950;CH471070;NM_001111038;NM_145032 AAH20572;AAH20575;AAH26121;AAH31285;AAP22333;AAR13262;AAR13263;AAS00354;AAS07481;ABM82468;ABM85656;BAC04540;BAC05092;CAD28506;EAW83298;EAW83299;EAW83300;EAW83301;EAW83302;EAW83303;EAW83304;EAW83305;EAW83306;NP_001104508;NP_659469;Q8NEE6 Hs.660029 1339220;1656518;1669996;1747809;1769726;1851982;1854720;2107283;2145387;2166434;5015861;7185938;7187435 D10S16;D7S1503;G10104;G30989;G31044;G66876;GDB:1317864;GDB:1318202;GDB:1318603;LRRC17__6427;SHGC-37419 FLJ38068;Fbl13;MGC21636 F-box/LRR-repeat protein 13;OTTHUMP00000211759;OTTHUMP00000211760;OTTHUMP00000211761;OTTHUMP00000211762;OTTHUMP00000211763;OTTHUMP00000211764 APPROVED protein-coding ENSG00000161040 21658 12364 609080 VALIDATED 1319294 FBXL16 F-box and leucine-rich repeat protein 16 Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 942657 955990 - 682503 695809 - 742500 755825 - 6480464 15616553;15520277;15489334;14702039;12477932;11157797;20043084;21900206 146330 B3KR59;Q8N461 ABBA01030354;ABBA01030355;ABBA01030356;AE006464;AK091054;AMYH01006999;AMYH01007000;AMYH01007001;AMYH01007002;BC034014;BC036680;CH471112;NM_153350;Z92544;Z97653 AAH34014;AAH36680;AAK61245;ACT64553;ACT64554;BAG52271;EAW85749;EAW85750;NP_699181;Q8N461 Hs.513244 C16orf22;FLJ33735;Fbl16;MGC33974;c380A1.1 F-box/LRR-repeat protein 16;OTTHUMP00000115487;c380A1.1 (novel protein) APPROVED protein-coding ENSG00000127585 14150 12365 609082 VALIDATED 1348950 FBXL17 F-box and leucine-rich repeat protein 17 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 5 5 5 q21.3 103134100 103657168 - 107223348 107745010 - 107194734 107717799 - 1580863;6480464 18820369;21145461;15520277;14702039;12477932;20200978;20379614;8889548;21906983;22318606;22952603;23118974 64839 Q9UF56 AA988642;AB533280;ABBA01069107;ABBA01069108;ABBA01069109;AC008462;AC008513;AC011419;AC092274;AC113358;AI826672;AK126722;AK172822;AL133602;AMYH01015535;AMYH01015536;AMYH01015537;AMYH01015538;AMYH01015539;BC018548;BC063316;BC126144;BC126146;BM682767;CH471086;NM_001163315 AAI26145;AAI26147;ADR82906;BAC86658;BAL72154;CAB63737;EAW49061;EAW49062;NP_001156787;Q9UF56 Hs.657225 1681006;1685868;1701406;1710658;1716235;1723669;1724505;1729489;1735496;1749375;1755177;1770520;1771890;1773393;1777322;1785742;1853575;2139022;2146193;2165554;2172785;2179812;5022578;5094961 A008D05;D1S1423;D5S1616E;D5S1700;D5S1847;D5S1916;D5S82;FBXL17;G09548;L28397;RH104333;RH121144;RH122353;RH122511;RH65658;RH69730;RH80125;RH99311;SHGC-111127;SHGC-142098;SHGC-81045;SHGC-81703;STS-N34057;WI-18334 DKFZp434C1715;FBXO13;Fbl17;Fbx13;MGC161422;MGC161424 F-box only protein 13;F-box/LRR-repeat protein 17;OTTHUMP00000216491;OTTHUMP00000216505 APPROVED protein-coding ENSG00000145743 13615 10950 609083 VALIDATED 1315065 FBXL15 F-box and leucine-rich repeat protein 15 10 10 10 q24.32 97920469 97923791 + 104169579 104172883 + 104179571 104182893 + 1580863;6480464 21145461;15489334;15164054;14702039;12477932;21139048;19159283 79176 Q49AL7 ABBA01063159;AK122684;AL121928;AMYH01003017;BC002912;BC036120;BC130566;BI914195;CH471066;NM_024326 AAH02912;AAH36120;AAI30567;EAW49699;NP_077302;Q9H469 Hs.380081 1671679;1736140;1769799;1855821;2131105 D10S1397E;D10S2152;RH47391;SGC33233;SHGC-34547 FBXO37;FLJ16137;Fbl15;JET;MGC11279;PSD F-box only protein 37;F-box/LRR-repeat protein 15;OTTHUMP00000020367;OTTHUMP00000059115;OTTHUMP00000059124;OTTHUMP00000059125;pleckstrin and Sec7 domain protein protein-coding ENSG00000107872 28155 610287 VALIDATED 1322203 FBXL19 F-box and leucine-rich repeat protein 19 This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein binds to the transmembrane receptor ST2L and regulates its ubiquination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 16 16 16 p11.2 29337602 29361786 - 30843397 30867605 + 30935896 30960104 + 6480464 14702039;15547684;15520277;15489334;12477932;22660580;22274791;20211142;20953189 54620 B7Z7Y9;H3BME1;H3BPI8;H3BPZ0;H3BQP6;H3BTJ3;H3BVB1;H7C112;Q6PCT2 ABBA01042071;AC135048;AK098777;AK127701;AK302669;AL137589;AMYH01007501;BC032391;BC048811;BC059173;CH471192;CX781342;DC325425;DC401737;NM_001099784;NM_001271651;NR_073401 AAH59173;BAC05410;BAH13775;CAB70830;EAW52187;EAW52188;EAW52189;EAW52190;NP_001093254;NP_001258580;Q6PCT2 Hs.152149 DKFZp434K0410;Fbl19;JHDM1C;MGC50505 F-box/LRR-repeat protein 19;OTTHUMP00000163236;OTTHUMP00000163237;jumonji C domain-containing histone demethylase 1C APPROVED protein-coding ENSG00000099364 25300 12366 609085 REVIEWED 2292065 FBXL19-AS1 FBXL19 antisense RNA 1 (head to head) 16 16 16 p11.2 29363207 29367157 + 30841114 30842091 - 30930640 30934590 - 14702039;12477932;8012384 283932 Q494R0 ABBA01042070;AC135048;AK090544;AK092263;AMYH01007500;BC101464;BC101988;BC105687;BC105926;CH471192;NR_024348;Z64539 BAC03841;EAW52191;Q494R0 Hs.711535 5015881;5016478;5020885;5022450;5022463;5022578;5493177 D10S275;D1S1423;D3S1673;GDB:335751;GDB:434012;L17791;UniSTS:484604 MGC125469;MGC125470;MGC125472;NCRNA00095 APPROVED miscrna ENSG00000260852 27557 14149 VALIDATED 1352891 FBXL18 F-box and leucine-rich repeat protein 18 Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 7 7 7 p22.2 5475728 5513156 - 5481954 5519925 - 5515428 5553399 - 1580863;6480464 16189514;15520277;15489334;14702039;12477932;18247557;21145461;22939629;21139048;21906983;22797925 80028 F5H4Z4;H0Y6I6;Q96ME1 AA878073;ABBA01039457;ABBA01039458;ABBA01039459;AC006483;AC092171;AK001638;AK021529;AK057042;AK095394;AK123535;AK130444;AK294949;AMYH01017003;AMYH01017004;BC004228;BC006426;BC013435;BC015445;BC024256;BC042819;CH471144;NM_024963 AAH04228;AAH06426;AAH13435;AAH24256;BAB13838;BAB71354;BAC85637;BAG53041;BAG58024;EAW87337;EAW87338;EAW87339;EAW87340;NP_079239;Q96ME1 Hs.623974;Hs.706587 2160059;2183516;5015619;5015861;5016781;5020948;5022450;5024039;5037552;5109281;7185938 D10S16;D10S275;D11S3114;D16S325;D1S1425;D8S2279;G35510;SHGC-67307;STS-T59353;WI-17897 FLJ10776;FLJ11467;FLJ26934;FLJ38075;FLJ41541;Fbl18 F-box/LRR-repeat protein 18;OTTHUMP00000200620;OTTHUMP00000200621 APPROVED protein-coding 21874 07753 609084 VALIDATED 1345687 FBXL20 F-box and leucine-rich repeat protein 20 Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 q12 34069835 34218841 - 34670366 34811402 - 37408897 37557909 - 737633;1580863;6480464 12477932 19124506;15520277;15489334;16344560;17207965;21399635;22939629;23000965;23023584 84961 J3KTA1;J3QKL3;Q96IG2 ABBA01031870;ABBA01031871;ABBA01031872;ABBA01031873;ABBA01031874;ABBA01031875;ABBA01031876;ABBA01031877;ABBA01031878;AC005288;AC015910;AK024690;AK123048;AK291844;AK312612;AL117623;AMYH01008374;BC007557;BC042012;CH471152;DA747594;DQ223959;NM_001184906;NM_032875 AAH07557;ABB03906;ADQ31807;BAF84533;BAG35499;BAG53862;EAW60573;EAW60574;NP_001171835;NP_116264;Q96IG2 Hs.462946 1698170;1729229;1783606;2118046;2140237;2148565;5014051;5015619;5016478;5016700;5022200;5022322;5022578;5024039;5037552;5117897;5120437 D11S2560;D11S3114;D16S325;D1S1423;D8S2278;D8S2279;G62211;GDB:315881;GDB:434012;GDB:631813;L18426;RH102620;RH46383;RH70794;RH79802;SHGC-171511;STS-W38387 DKFZp564O2364;FLJ21037;Fbl2;Fbl20;MGC15482;SCR;SCRAPPER F-box protein FBL2;F-box/LRR-repeat protein 2-like;F-box/LRR-repeat protein 20 APPROVED protein-coding 24679 10951 609086 VALIDATED 1350469 FBXL22 F-box and leucine-rich repeat protein 22 This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010] 15 15 15 q22.31 40768998 40774059 + 61676649 61681680 + 63889552 63894627 + 737633;6480464 12477932 15520277;15489336;15489334;14702039;11076863;16381901;20379614;22972877 283807 H0YMQ4;Q6P050;R4GNI3 AA495872;ABBA01038909;AC118274;AK096945;AMYH01006704;BC065833;CH471082;NG_027784;NM_203373 AAH65833;CAL37683;CAL37880;CAL38041;CAL38212;CAL38748;EAW77653;NP_976307;Q6P050 Hs.631163;Hs.656997 2116164 WI-14801 FLJ39626;Fbl22;MGC75496 F-box and leucine-rich protein 22;F-box/LRR-repeat protein 22;OTTHUMP00000163824 APPROVED protein-coding ENSG00000197361 27537 16432 609088 REVIEWED 736852 FBXL2 F-box and leucine-rich repeat protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 3 3 3 p22.3 33262399 33372286 + 33293938 33403129 + 33318934 33428757 + 632681;6480464 10508920 14702039;10531037;10531035;17784784;15489334;12477932;10945468;15893726;16169070;16344560;22455980;23370391;22399757;22323446;22020328;22939624;23604317 25827 B4DSB7;B4DY12;B4E1B8;F8WB01;F8WBS9;F8WBW7;F8WC58;F8WCQ8;F8WE99;Q9UKC9 ABBA01024906;ABBA01024907;AC122176;AC123900;AF174589;AF176518;AF186273;AK001271;AK001438;AK096492;AK294209;AK297534;AK298967;AK299665;AK302218;AK303764;AK316229;AK316383;AL049953;AMYH01013067;AMYH01013068;AMYH01013069;AU124816;BC031556;CH471055;CR457121;DA031508;NM_001171713;NM_012157 AAD56248;AAF03128;AAF04510;AAH31556;ABM82090;ABM85271;BAA91691;BAG50882;BAG57520;BAG59935;BAG61062;BAG61579;BAG63574;BAG64730;BAH14600;BAH14754;CAB43222;CAG33402;EAW64452;EAW64453;NP_001165184;NP_036289;Q9UKC9 Hs.475872 1651390;1727511;1728013;2121119 D3S3815;G63013;G63277;HSC28B082 DKFZp564P0622;FBL2;FBL3 F-box protein FBL2/FBL3;F-box protein containing leucine-rich repeats;F-box/LRR-repeat protein 2;OTTHUMP00000161310;OTTHUMP00000208924 APPROVED protein-coding ENSG00000153558 13598 05736 605652 REVIEWED 1343721 FBXL21 F-box and leucine-rich repeat protein 21 (gene/pseudogene) This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. Comparisons of this gene to orthologous sequences suggest that it may be a pseudogene, and may no longer express a functional protein.[provided by RefSeq, Aug 2009] 5 5 5 q31 131390736 131402098 + 135300162 135305266 + 135266006 135277367 + 1580863;6480464 10531035;19240061;18404645;16344560;12477932;20237496;22318606 26223 Q3KPF8;Q9UKT6 ABBA01068719;ABBA01068720;AC002428;AF129533;AMYH01015630;BC044938;BC106753;CH471062;DA633926;NM_012159 AAF04467;AAI06754;EAW62202;EAW62203;NP_036291;Q9UKT6 Hs.591275 FBL3B;FBXL3B;FBXL3P;Fbl21;MGC120237 F-box and leucine-rich repeat protein 3 pseudogene;F-box and leucine-rich repeat protein 3B;F-box protein Fbl3b;F-box/LRR-repeat protein 21;F-box/LRR-repeat protein 3B;OTTHUMP00000209342 APPROVED protein-coding 13600 16431 609087 VALIDATED 1343078 FBXL3 F-box and leucine-rich repeat protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008] 13 13 13 q22 58477376 58499318 - 76477397 76499258 - 77579389 77601331 - 1580863;6480464 10531035;17463251;16344560;15489334;12477932;10945468;10828603;10531037;17207965;21963094;22939624;23453757;23503662;23616524;20360068;21987572;21890473;21906983;22505724;22975506 26224 C9J0Y7;Q9UKT7 ABBA01021659;ABBA01021660;AC001226;AF126028;AF129532;AI133484;AK025484;AK314442;AL833187;AMYH01005222;BC063796;BC072448;CH471093;DA119701;NM_012158 AAF04466;AAF37383;AAH72448;ADQ31985;BAG37051;EAW80563;NP_036290;Q9UKT7 Hs.508284 1647336;1715859;1773655;1788772 A006Y41;RH119624;RH131875;WI-19996 FBL3;FBL3A;FBXL3A F-box and leucine-rich repeat protein 3A;F-box protein Fbl3a;F-box/LRR-repeat protein 3;F-box/LRR-repeat protein 3A;OTTHUMP00000018519;OTTHUMP00000018520 APPROVED protein-coding ENSG00000005812 13599 05737 605653 REVIEWED 1313507 FBXO10 F-box protein 10 Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 9 9 9 p13.2 37444118 37509479 - 37500889 37566250 - 37510889 37576250 - 1580863;1601189;6480464 17404222 11181995;10531035;10531037;19300908;19124506;15520277;15164053;15146197;14702039;21145461;20554749;12477932;20379614;22939624;23431138 26267 F5GXN9;J3KN78;Q08AL4;Q59F51;Q9UK96 AB209610;ABBA01050392;ABBA01050393;ABBA01050394;AF174598;AF176705;AI475671;AK123986;AL513165;AMYH01019358;BC013747;BC125124;BC125125;BC140785;BC171785;BU623815;CH471071;CN411883;NM_012166 AAF03705;AAF04519;AAI25125;AAI25126;AAI40786;AAI71785;BAD92847;EAW58274;EAW58275;EAW58276;NP_036298;Q9UK96 Hs.709527 1715307;1770886;1772549;1777552;1777561;2147292;2167229;2169193 A004G26;A008K33;Cda0wc05;D9S1718;RH120485;RH45392;RH48090;WI-18403 FBX10;FLJ41992;MGC149840;PRMT11 F-box only protein 10;F-box protein Fbx10;OTTHUMP00000021390 APPROVED protein-coding ENSG00000147912 13589 609092 VALIDATED 1353759 FBXL6 F-box and leucine-rich repeat protein 6 This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141754472 141757513 - 145549899 145552940 - 145579088 145582183 - 1580863;6480464 10531035;18426905;15489334;14702039;12477932;10531037;8125298;16341674;21890473;21906983;19159283;15520277;23000965 26233 Q71RB6;Q8N531 ABBA01005210;AC233992;AF174592;AF205589;AF370422;AK026541;AK223088;AL713783;AMYH01019151;AW236517;BC033066;BM761056;CH471162;NG_032872;NM_012162;NM_024555 AAF04513;AAH33066;AAQ15258;BAB15499;BAD96808;EAW82117;EAW82118;EAW82119;EAW82120;EAW82121;EAW82122;NP_036294;NP_078831;Q8N531 Hs.12271 1675786;1792782 PMC164520P1;RH15614 FBL6;FBL6A;PP14630 F-box protein Fbl6;F-box/LRR-repeat protein 6;OTTHUMP00000228750;OTTHUMP00000228751 APPROVED protein-coding ENSG00000182325 13603 16429 609076 REVIEWED 1313923 FBXL4 F-box and leucine-rich repeat protein 4 This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 q16.1-q16.3 99965788 100040008 - 99428322 99502570 - 99321601 99395849 - 1580863;6480464 10531035;15489334;14574404;12477932;10945468;10531037;18029348;21757720;21890473;16344560;11178263 26235 Q9UKA2 ABBA01014492;ABBA01014493;ABBA01014494;AF174590;AF176699;AF199355;AI935511;AJ420594;AK308736;AK313076;AL022395;AL523022;AMYH01016537;BC032641;BC039819;BC055010;BC091484;BQ213738;CH471051;DA391493;DA782779;NM_001278716;NM_012160;NR_103836;NR_103837 AAF03699;AAF04511;AAF09247;AAH55010;AAH91484;BAG35902;EAW48488;EAW48489;EAW48490;NP_001265645;NP_036292;Q9UKA2 Hs.536850 1668644;1680795;1690608;1699834;1706854;1707246;1721937;1752429;2116710;2134523;2183493;5037552 D8S2279;G60001;RH103524;RH45218;RH68518;RH92465;RH93324;SHGC-106391;SHGC-52790;SHGC-79218;SHGC-80910;WI-17905 FBL4;FBL5 F-box protein FBL4;F-box protein FBL4/FBL5;F-box/LRR-repeat protein 4;OTTHUMP00000016888 APPROVED protein-coding ENSG00000112234 13601 05738 605654 REVIEWED 1315757 FBXL5 F-box and leucine-rich repeat protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010] 4 4 4 p15.32 16069952 16121669 - 15215252 15266111 - 15606007 15657035 - 1580863;6480464 10531035;17532294;16381901;15489336;15489334;14702039;12477932;11230166;11076863;10945468;10531037;9110174;8619474;19762596;19762597;16344560;23135277;22253436;21900206;21906983;21145461;22648410;22975506 26234 D6R9Y4;D6RB50;D6RBW7;D6RCR7;D6RED6;D6RHC3;H0Y9Y0;H0YAG2;Q9UJT7 ABBA01032571;ABBA01032572;AC114744;AC116651;AF052097;AF142481;AF157323;AF174591;AF176700;AF199420;AI858616;AK000153;AK295510;AK310860;AL832808;AMYH01014021;BC012320;BC030656;BF432189;BI464829;BQ008436;BX537957;CH471069;DB080171;NM_001193534;NM_001193535;NM_012161;NR_036464 AAF03700;AAF04512;AAF09249;AAF66616;AAF67489;AAH30656;AAY40929;ABM83378;ABM86590;BAA90978;BAG58427;CAD97924;CAL37543;CAL38352;EAW92736;EAW92737;EAW92738;EAW92739;NP_001180463;NP_001180464;NP_036293;Q9UKA1 Hs.643433;Hs.714386 1768445;1778318;2107087;2120100;2147854;2174676;2180339;5491747 D4S2682;D4S3149;FBXL5;FBXL5__7649;G33822;RH36445;SHGC-36262;SHGC-63591 FBL4;FBL5;FLR1 F-box protein FBL4/FBL5;F-box protein FBL5;F-box/LRR-repeat protein 5;OTTHUMP00000122631;OTTHUMP00000217784;OTTHUMP00000217786;p45SKP2-like protein APPROVED protein-coding ENSG00000118564 13602 05739 605655 REVIEWED 1314074 FBXL7 F-box and leucine-rich repeat protein 7 This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 5 5 5 p15.1 15523976 15963562 + 15553305 15992900 + 15500305 15939900 + 1580863;6480464 15070733;10531035;16000324;15489334;14702039;12477932;12168954;10945468;10531037;10048485;20379614;20418484;21832049;18426905;17704768;22306998;22566634;22589738;23251661 23194 D6RDY7;J3KNM9;Q9UJT9 AB020647;ABBA01020651;ABBA01020652;ABBA01020653;ABBA01020654;AC010477;AC010638;AC027332;AC091872;AC091970;AF174593;AF199356;AK021671;AK309585;AMYH01014925;AMYH01014926;AMYH01014927;AMYH01014928;AMYH01014929;AMYH01014930;AY425960;BC050571;BC075061;BC136424;BU633031;CH471102;CS185586;NM_001278317;NM_012304 AAF04514;AAF09248;AAH75061;AAI36425;AAR07953;BAA74863;CAJ42767;EAX08028;EAX08029;NP_001265246;NP_036436;Q9UJT9 Hs.433057 1336982;1338013;1689227;1710240;1717451;1718989;1719047;1747761;1750549;1852602;1857342;2135696;2142021;2142310;2146554;2156262;2162273;2163824;2165522;2180069 A003P38;D5S1954;D5S1989;D5S2568;D5S2607;G16913;G19185;G66810;RH11593;RH122229;RH123203;RH123231;RH16291;RH36119;RH79773;SHGC-111858;SHGC-34932;SHGC-85210;STS-W86978;WI-21928 FBL6;FBL7 F-box protein FBL6/FBL7;F-box protein Fbl7;F-box/LRR-repeat protein 7;OTTHUMP00000220749 APPROVED protein-coding ENSG00000183580 13604 05740 605656 REVIEWED 1352579 FBXL8 F-box and leucine-rich repeat protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51702134 51706321 + 65751392 65755578 + 67193891 67198077 + 1580863;6480464 15489334;14702039;12477932;10531037;21145461;19159283;19913121;20628086;21988832;22939624 55336 E5RFX2;E5RH15;E5RHS9;E5RIE9;E5RIS0;J3QRE3;Q96CD0 ABBA01025431;AC074143;AK002140;AMYH01007745;BC014414;CH471092;NG_009294;NM_018378 AAH14414;ABM84591;ABM86700;BAA92103;EAW83082;NP_060848;Q96CD0 Hs.710714 FBL8;FLJ11278;MGC19959 F-box protein FBL8;F-box/LRR-repeat protein 8;OTTHUMP00000174809;OTTHUMP00000224681 APPROVED protein-coding ENSG00000135722 17875 16430 609077 REVIEWED 1348534 FBXO11 F-box protein 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010] 2 2 p16.3 47887563 47986318 - 48034059 48132932 - 6480464;6484113 16487488;17098746;10531035;10531037;16847180;15489334;14702039;12477932;11775060;8125298;18247557;21145461;15520277;17642606;19360327;19615732;20379614;20514423;18029348;20646433;23894747;21293382;21963094;23478441;23478445;19322201;21987572;22113614;21090589;21139048;21906983 80204 B3KUR1;B5MCV6;B5MEH7;C9IYF0;E7EP88;H0YAV3;Q9H9L1 ABBA01075176;ABBA01075177;ABBA01075178;AC006509;AC079807;AF174599;AF176706;AF264714;AF351618;AI879484;AK022735;AK025477;AK097734;AK223592;AK292877;AK297444;AK304140;AK315108;AL117620;AMYH01010329;AMYH01010330;AY827075;BC012728;BC043258;BC130445;BC136480;CH471053;DN994547;NG_008397;NM_001190274;NM_025133 AAF04520;AAF17611;AAF76888;AAH12728;AAH43258;AAI30446;AAI36481;AAN76518;AAV87312;AAY24083;ADR83434;BAB14214;BAB15143;BAD97312;BAF85566;BAG53523;BAG59870;BAG65034;CAB56019;EAX00202;EAX00203;EAX00204;EAX00205;EAX00206;EAX00207;NP_001177203;NP_079409;Q86XK2 Hs.352677 1683819;1788316;1788626;1795816;5127247 FBXO11_633;G67493;RH126790;RH75921;RH77959 FBX11;FLJ12673;MGC44383;PRMT9;UBR6;UG063H01;VIT1 F-box only protein 11;OTTHUMP00000159398;OTTHUMP00000200455;protein arginine N-methyltransferase 9;ubiquitin protein ligase E3 component n-recognin 6;vitiligo-associated protein 1;vitiligo-associated protein VIT-1 APPROVED protein-coding ENSG00000138081 13590 06985 607871 REVIEWED 1321642 FBXO15 F-box protein 15 Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 18 18 18 q22.3 68605113 68679631 - 69891585 69965929 - 71740588 71815100 - 1580863;6480464 15520277;15489334;14702039;12665572;12477932;10531037;8889548;17207965;23509962;23408906;23465077 201456 J3KRQ6;J3KRS5;J3KRT3;J3KS84;J3QKV0;J3QL50;J3QLF9;J3QRE7;Q8NCQ5 ABBA01056323;AC084702;AC090125;AK093252;AK094215;AMYH01009095;BC029579;BI829755;BU729305;CH471117;DB447209;NM_001142958;NM_152676 AAH29579;ADQ31818;BAG52845;EAW66536;EAW66537;EAW66538;EAW66539;NP_001136430;NP_689889;Q8NCQ5 Hs.664011 1734580;1750217;2172783;2217318 D18S938E;FBX15_2835;RH68742;SHGC-112312 FBX15;MGC39671 F-box only protein 15;OTTHUMP00000163743 APPROVED protein-coding ENSG00000141665 13617 16435 609093 REVIEWED 1312847 FBXO16 F-box protein 16 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 8 8 8 p21.1 27245788 27307641 - 28341848 28403703 - 28285925 28347835 - 1580863;6480464 15489334;14702039;12477932;12243353;10531035;10531037;19850743;16712791 157574 E5RFF8;E5RIL5;G3V0Z8;H0YC72;J3KNU2;Q8IX29 AA765256;ABBA01005601;ABBA01005602;ABBA01005603;AC011132;AC025871;AF453435;AK098243;AL560247;AMYH01018604;BC074986;BC102026;BC102027;BC102028;CB134505;CH471080;NM_001258211;NM_172366 AAH74986;AAI02027;AAI02028;AAI02029;AAN76812;EAW63512;EAW63513;EAW63514;EAW63515;EAW63516;EAW63517;EAW63518;NP_001245140;NP_758954;Q8IX29 Hs.741522 1650305;1745919;1760679;1770871;2118359;2172091 1814;D8S1407E;G09787;G64297;RH66113;SHGC-144221 FBX16;MGC125923;MGC125924;MGC125925 F-box only protein 16;OTTHUMP00000128340;OTTHUMP00000225350;OTTHUMP00000225351 APPROVED protein-coding ENSG00000214050 13618 16347 608519 REVIEWED 1602355 FBXO22-AS1 FBXO22 antisense RNA 1 15 15 15 q24.2 53150954 53151401 - 74012079 74012526 - 76225024 76225471 - 21145461;21963094 692224 AA843761;AA931120;ABBA01060541;AC027104;AI868357;AMYH01006819;NR_003136 Hs.591115 1685908;1688390;2143827 G35320;RH75046;RH99271 FBXO22OS;FISTC1OS;HsT18082;NCRNA00053 APPROVED miscrna 31025 PROVISIONAL 732900 FBXO2 F-box protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. [provided by RefSeq, Jul 2008] 1 1 p36.22 11631035 11637326 - 11708418 11714888 - 1580863;6480464;6907045 10531035;16710414;15489334;12904574;12477932;12383498;12140560;10531037;9857061;16275327;17116465;18284940;22917612;17389369;7458746;15723043;16682404;15342556;16226712;21135578;20854419;15109709;17494702;18203720;19159283;20682791;22318606;21565611 26232 Q9UK22;R4GNH2 ABBA01003054;AF174594;AF187318;AK308531;AK313019;AL031731;AMYH01000256;AW138262;AW162121;BC014957;BC025233;BC096747;BE464909;BF967195;BM128229;BP209877;CH471130;CR542110;H18283;NM_012168 AAF01822;AAF04515;AAH25233;AAH96747;ABM83774;ABM83775;ABM87094;BAG35854;CAG46907;EAW71689;NP_036300;Q9UK22 Hs.132753;Hs.556006 2118389;2124491 G29173;WI-20866 FBG1;FBX2;Fbs1;NFB42;OCP1 F-box gene 1;F-box only protein 2;OTTHUMP00000002066;neural f box protein nfb42;organ of Corti protein 1 APPROVED protein-coding ENSG00000116661 13581 06171 607112 REVIEWED 1318004 FBXO17 F-box protein 17 This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 19 q13.2 36234470 36268805 - 44123882 44158220 - 39432042 39466380 - 6480464 17672918;15489334;14702039;12477932;12383498;11178263;10531037;21145461;21640084;18203720;19615732;22939624;8889548;21139048;19295130 115290 M0QYI3;M0QYV7;M0QZ95;Q96EF6 ABBA01040710;ABBA01040711;ABBA01040712;AC011455;AF386743;AI050825;AK021860;AK057934;AMYH01009789;BC012385;BM711851;BX338290;CA429117;CF594009;CH471126;NM_024907;NM_148169;NR_104026 AAH12385;AAL37625;ABM82255;ABM84283;ABM85438;ABM87675;BAB71616;EAW56853;EAW56854;EAW56855;NP_079183;NP_680474;Q96EF6 Hs.531770 FBG4;FBX26;FBXO26;FLJ11798;FLJ25205;FLJ58300;Fbx17;MGC9379 F-box only protein 17;F-box only protein 26;F-box protein FBG4 APPROVED protein-coding ENSG00000269190 18754 16436 609094 REVIEWED 1316490 FBXO21 F-box protein 21 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 12 q24.22 117211091 117257810 - 116065968 116112683 - 117581585 117628300 - 1580863;6480464 10531035;15489334;14702039;12477932;12421765;11230166;10048485;18247557;21145461;20811636;18781797;21987572;21139048;21906983;19322201;21628590;22505724 23014 H0YHF6;H0YIE9;O94952;Q4G104;Q8IUQ5 AB020682;ABBA01020025;AC026364;AC026368;AF174601;AK001699;AK074714;AK308141;AK314573;AL136899;AMYH01004783;BC034045;BC042333;BC091496;BI550121;CH471054;NM_015002;NM_033624 AAF04522;AAH34045;AAH42333;AAH91496;BAA74898;BAG50962;BAG51990;CAB66833;EAW98102;EAW98103;EAW98104;EAW98105;EAW98106;NP_055817;NP_296373;O94952 Hs.740376 1670112;1675023;1680571;1685339;1746745;1795818;2145488;2146182;2176397 D12S2147;FBXO21_1269;G64759;RH15672;RH47471;RH93520;STS-T56610;WI-20357;WI-21497 DKFZp434G058;FBX21;FLJ90233;KIAA0875;MGC26682 F-box only protein 21;OTTHUMP00000241317;OTTHUMP00000241318;OTTHUMP00000241319 APPROVED protein-coding ENSG00000135108 13592 09948 609095 REVIEWED 1314839 FBXO18 F-box protein, helicase, 18 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 10 10 10 p15.1 5862606 5909945 + 5972220 6019562 + 5931535 5979558 + 6480464 21145461;17724085;15489334;15164054;14702039;12477932;11956208;10531037;20453838;16169070;16385451;18029348;19736316;15118074;16344560;8889548;21139048;23319600;22939624;23393192;23361013;22505724 84893 B3KV95;Q2TAK1;Q5JVB6;Q96K67 ABBA01034769;ABBA01034770;AF380349;AF454502;AF456237;AI818794;AK027381;AK027496;AK095343;AK122753;AK226128;AK315173;AL133069;AL137186;AL832251;AMYH01002002;BC006430;BC012762;BC020266;BC032674;BC080629;BC110884;BC113375;BC113377;CH471072;CN478453;DA326341;DB099150;NM_001258452;NM_001258453;NM_032807;NM_178150 AAH06430;AAH12762;AAH32674;AAH80629;AAI10885;AAI13376;AAI13378;AAM73631;AAP97700;AAP97705;BAB55073;BAB55154;BAC04535;BAG37614;BAG53707;CAB61392;EAW86424;EAW86425;EAW86426;EAW86427;EAW86428;NP_001245381;NP_001245382;NP_116196;NP_835363;Q8NFZ0 Hs.498543 1671878;1688380;1722107;1850956;2217320;5015879;5022578;5022651 A001Z43;D10S1596;D11S2921;D1S1423;FBXO18_2669;G60095;GDB:314949;RH44243 FBH1;FLJ14590;Fbx18;MGC131916;MGC141935;MGC141937 F-box DNA helicase 1;F-box only protein 18;F-box only protein, helicase, 18;OTTHUMP00000019016;OTTHUMP00000019017 APPROVED protein-coding ENSG00000134452 13620 06243 607222 REVIEWED 1312922 FBXO24 F-box protein 24 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 7 7 7 q22 94913753 94928537 + 100021892 100036676 + 100183956 100198740 + 1580863;6480464 10531035;15489334;12853948;12690205;12477932;11230166;10531037;9847074 26261 A4D2D3;C9J4S8;C9K0U2;F8WC52;O75426 AACC02000084;ABBA01013198;AC069281;AF174604;AK292240;AK301864;AK302252;AK310487;AL136811;AMYH01017739;BC032497;BC051745;BC067293;BU656991;CH236956;CH471091;DC397982;NM_001163499;NM_012172;NM_033506 AAF04525;AAH67293;AAP21862;AAP21863;BAF84929;BAG63303;BAG63604;CAB66745;EAL23826;EAL23827;EAW76516;EAW76517;EAW76518;NP_001156971;NP_036304;NP_277041;O75426 Hs.283764 5015961;5037552 D15S1477;D8S2279 DKFZp434I1122;FBX24 F-box only protein 24;F-box protein Fbx24;OTTHUMP00000215770;OTTHUMP00000215772;OTTHUMP00000215773;OTTHUMP00000215774 APPROVED protein-coding ENSG00000106336 13595 16438 609097 REVIEWED 1603223 FBXO25 F-box protein 25 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p23.3 324725 387793 + 346808 409876 + 356808 419876 + 6480464 16714087;10531035;18287534;16278047;15489334;12477932;10531037;7566098;17207965;20473970;16751776;21596019;21890473 26260 B4DYA3;E5RFH9;H0YBS4;Q8TCJ0 AA316216;AB070270;ABBA01007277;AC083964;AF174605;AF419858;AI223050;AK302334;AMYH01018266;AMYH01018267;BC012143;BC020249;BC035555;BC050393;CH471181;DQ586074;NM_012173;NM_183420;NM_183421 AAF04526;AAH20249;AAH50393;AAP97293;ADQ32194;BAB85128;BAG63665;EAW51450;EAW51451;EAW51452;EAW51453;EAW51454;EAW51455;NP_036305;NP_904356;NP_904357;Q8TCJ0 Hs.438454 1644506;1666040;1677758;1687079;1700288;1701454;1732055;1772408;1848783;2163848;2171794;2217322 A004A46;D8S1386E;D8S1590;D8S596;FBXO25_2899;NIB9;RH103762;RH104359;RH40549;SHGC-16183;WI-20786;WIAF-1550 FBX25;MGC20256;MGC51975 F-box only protein 25;F-box protein Fbx25;OTTHUMP00000115396;OTTHUMP00000115397;OTTHUMP00000115399 APPROVED protein-coding ENSG00000147364 13596 16439 609098 REVIEWED 1343305 FBXO27 F-box protein 27 Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 q13.2 36317092 36325633 - 44206501 44215038 - 39514661 39523198 - 1580863;6480464 15520277;15489334;12477932;12383498;126433;21640084;18203720;17207965;16226712;16682404;19322201 126433 M0QYQ6;M0R0I8;M0R1C3;Q8NI29 ABBA01040716;AC010605;AF436061;AMYH01009789;AMYH01009790;BC014527;BC030060;CH471126;NM_178820 AAH14527;AAH30060;AAM27918;ADQ32620;EAW56856;NP_849142;Q8NI29 Hs.187461 5022578;5037552 D1S1423;D8S2279 FBG5;Fbx27 F-box only protein 27;F-box protein FBG5;F-box/G-domain protein 5 APPROVED protein-coding ENSG00000161243 18753 16440 609099 PROVISIONAL 1312107 FBXO28 F-box protein 28 Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 1 1 1 q42.11 197492695 197540680 + 222368436 222413869 + 224301789 224349749 + 737633;1580863;6480464 12477932 17081983;16710414;16189514;15520277;15489334;15342556;15146197;14702039;9455484;22939629;8570611;20360068;21890473;21906983;16344560 23219 B4E0H5;Q9NVF7 AB007952;ABBA01009711;ABBA01009712;ABBA01009713;AI354536;AK001628;AK303381;AK307892;AL390122;AMYH01001766;BC014378;BC031576;BP249147;CH471098;CN415382;DB136175;NM_001136115;NM_015176;NR_049764;U38437 AAH31576;ADZ15335;BAA32327;BAA91795;BAG64437;EAW69709;EAW69710;NP_001129587;NP_055991;Q9NVF7 Hs.64691 1664565;1699758;1781502;2107089;2126165;2162989;2177782 FBXO28__7651;RH103485;RH68712;SHGC-141518;SHGC-57931;SHGC-76421;SHGC-76422 CENP-30;FLJ10766;Fbx28;KIAA0483 F-box only protein 28;OTTHUMP00000035597;OTTHUMP00000228322;centromere protein 30 APPROVED protein-coding ENSG00000143756 29046 12367 609100 VALIDATED 1315406 FBXO22 F-box protein 22 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 15 15 15 q24.2 53122128 53152874 + 73983255 74013999 + 76196200 76227609 + 1580863;6480464 18247557;21145461;10531037;10531035;17855421;15489334;14702039;12477932;8125298;12481031;19615732;15520277;18922183;20728256;17207965;21768309;21139048;21890473;21906983;21963094;22053931;22505724;22761574 26263 H3BRE0;H3BTH6;H3BTR7;H3BUC1;H3BVA4;Q8NEZ5 ABBA01060541;AC027104;AF174602;AK024048;AK026282;AK223500;AK294311;AK307084;AL705285;AL705308;AMYH01006819;AW292124;AY005144;BC020204;BC032540;BC039024;BC041691;BE738571;BG328756;CH471136;NM_012170;NM_147188;NR_037623 AAF04523;AAF89095;AAH20204;AAH32540;AAH39024;AAH41691;ADQ33005;BAB14798;BAD97220;BAG57588;EAW99229;EAW99230;EAW99231;EAW99232;NP_036302;NP_671717;Q8NEZ5 Hs.591115 1685908;1688390;1696646;2143827;2178756 G35320;RH45660;RH75046;RH99271;SHGC-82957 FBX22;FISTC1;FLJ13986;MGC31799 F-box only protein 22;F-box protein FBX22p44;FIST domain containing 1;OTTHUMP00000183525 APPROVED protein-coding ENSG00000167196 13593 16437 609096 REVIEWED 1314921 FBXO3 F-box protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. [provided by RefSeq, Jul 2008] 11 11 11 p13 33909992 33943582 - 33719066 33752647 - 33762490 33796071 - 1580863;6480464 21145461;10531035;18809579;14702039;12477932;11230166;10945468;10531037;12481031;19615732;20379614;21987572;21139048;21890473;21906983;21963094;22318606;22939624;23000965;23542741;22190034;22797925 26273 B4E3U2;E9PJM3;E9PL46;G3V1E0;Q49AF1;Q9UK99 AB209039;ABBA01060881;AC113192;AF174595;AF176702;AK001943;AK128454;AK300721;AK304866;AK316286;AL049629;AL136625;AL832826;AMYH01003485;BC017107;BC039291;BC046110;BG716664;CH471064;NM_012175;NM_033406 AAF03702;AAF04516;AAH39291;AAH46110;ACE86894;ACE87581;BAA91991;BAD92276;BAG54678;BAG65604;BAH13334;BAH14657;CAB66560;EAW68186;EAW68187;EAW68188;EAW68189;EAW68190;EAW68191;NP_036307;NP_208385;Q9UK99 Hs.406787 1770325;1777636;1797522;1853604;1856841;2156473;5022720;5024545 A007J20;D11S4719;D1S3695;FBXO3;FBXO3_2462;SGC44450;SHGC-44450;WI-11454 DKFZp564B092;FBA;FBX3 F-box only protein 3;F-box protein FBX3;OTTHUMP00000232318;OTTHUMP00000232321;OTTHUMP00000232322;OTTHUMP00000232323;OTTHUMP00000232417 APPROVED protein-coding ENSG00000110429 13582 16433 609089 REVIEWED 6481059 FBXO36-IT1 FBXO36 intronic transcript 1 (non-protein coding) 100874344 AC009973 miscrna 41489 1317314 FBXO36 F-box protein 36 Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 2 2 2 q36.3 224563142 224653752 + 230495451 230586069 + 230787207 230877825 + 737633;1580863;6480464 12477932 15520277;15489334;14702039;20379614 130888 B3KVQ6;B8ZZQ1;Q8NEA4 ABBA01050134;ABBA01050135;ABBA01050136;ABBA01050137;AC009973;AK094911;AK123085;AK289655;AK309702;AMYH01011547;AMYH01011548;BC017869;BC022538;BC033935;BF674223;BM997950;CH471063;NM_174899 AAH22538;AAH33935;AAY14756;BAF82344;BAG53868;EAW70909;EAW70910;EAW70911;EAW70912;NP_777559;Q8NEA4 Hs.140666 5016596;5037552 D8S2279;GDB:631802 FLJ37592;FLJ41090;Fbx36 F-box only protein 36;OTTHUMP00000164267;OTTHUMP00000204198;OTTHUMP00000204199 APPROVED protein-coding ENSG00000153832 27020 16443 609105 VALIDATED 1347238 FBXO30 F-box protein 30 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008] 6 6 6 q24 146859626 146876275 - 146160964 146177614 - 146119271 146135921 - 1580863;6480464 15761153;15520277;15489334;14702039;14574404;12903040;12536519;12477932;18247557;21145461;20936779;21139048;20360068;19322201 84085 Q8TB52 ABBA01025726;AF248640;AK055919;AK123026;AK124138;AK313613;AL356599;AMYH01016727;BC024326;CD109841;CH471051;NM_032145 AAH24326;AAK30299;BAG36376;EAW47841;NP_115521;Q8TB52 Hs.421095 1644859;1649066;1681797;1693778;1756041;1757265;1795820;1847451 FBXO30_1425;RH69898;RH70347;SHGC-142852;SHGC-144682;SHGC-2477;SHGC-58853;WI-9997 FLJ41030;Fbx30;MGC21674 F-box domain protein;F-box only protein 30;F-box only protein, helicase, 18;OTTHUMP00000017362 APPROVED protein-coding ENSG00000118496 15600 10953 609101 REVIEWED 1351564 FBXO31 F-box protein 31 Members of the F-box protein family, such as FBXO31, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 16 16 16 q24.2 71659646 71722476 - 85920443 85974864 - 87362942 87425708 - 6480464 19412162;16381901;16357137;15520277;15489336;15489334;12477932;12213200;11230166;11076863;21145461;19801982;21537837;22632973;22472876 79791 H3BQG7;H3BUC7;Q5XUX0 ABBA01034327;ABBA01034328;AC010531;AF318348;AF428140;AK311122;AL117444;AMYH01007898;AY736035;BC002985;BC012748;BG718342;BI596608;CH471114;DB444853;NM_024735;NR_024568 AAH12748;AAL55855;AAQ04213;AAU50679;CAB55929;EAW95400;EAW95401;EAW95402;EAW95403;EAW95404;NP_079011;Q5XUX0 Hs.567582 1663642;1675225;1778184;2146205;2165691 1802;A001Y26;SHGC-60755;SHGC-60821;SHGC-61138 DKFZp434B027;DKFZp434J1815;FBX14;FBXO14;FLJ22477;Fbx31;MGC15419;MGC9527;pp2386 F-box only protein 31;SCF ubiquitin ligase specificity factor;putative breast cancer tumor-suppressor APPROVED protein-coding 16510 10954 609102 VALIDATED 734419 FBXO32 F-box protein 32 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 8 8 q24.13 124584539 124622627 - 124510127 124553493 - 633893;1580863;6480464 11679633 21964591;22590725;19453261;18681786;18599544;17992259;17977773;17971512;17901116;17609255;17519359;17478621;16868939;16507768;14702039;12477932;11717410;18354498;19117950;20833824;17207965;19850579;19859778;20065949;21304964;19073596;21725612;22127230;22249105;21546904;21906983;20473970;20706999;22815045;22311109 114907 I6L984;Q0VAQ6;Q498Y9;Q969P5 ABBA01037877;AC090193;AI077844;AJ420108;AK023391;AK056986;AK096904;AK124390;AK125888;AMYH01019004;AY059629;BC022416;BC024030;BC100020;BC120963;BC120964;CH471060;DB503484;EF143260;NM_001242463;NM_058229;NM_148177 AAH24030;AAI00021;AAI20964;AAI20965;AAL16407;ABO37797;ADQ32382;BAB71333;CAD12251;EAW92040;EAW92041;EAW92042;EAW92043;NP_001229392;NP_478136;NP_680482;Q969P5 Hs.403933 1669958;1673959;1687524;1719291;1721441;1735738;1769117;1797108;1847201;1850831;1851392;2131356;2146794;2152412;2217324;5109675 Bda38a02;D8S1342E;D8S1354E;D8S1356E;FBXO32_(5);FBXO32_2733;G59572;RH11911;RH123368;RH12468;RH48400;RH93103;STS-AA027933;STS-H99761;STS-N27429;WI-14871 FLJ32424;Fbx32;MAFbx;MGC33610 OTTHUMP00000228094;OTTHUMP00000228095;atrogin 1;atrogin-1;muscle atrophy F-box protein APPROVED protein-coding ENSG00000156804 16731 05966 606604 REVIEWED 1316797 FBXO33 F-box protein 33 This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] 14 14 14 q21.1 19731269 19768589 - 38936710 38971371 - 39865577 39901704 - 1580863;6480464 15520277;15489334;12477932;21145461;16797541;20379614;21139048 254170 G3V3J7;Q7Z6M2 ABBA01061554;ABBA01061555;ABBA01061556;AI141232;AI989795;AK294140;AL049875;AL157791;AMYH01005685;BC030611;BC042535;BC053537;BC068566;BX248772;CH471078;NG_027725;NM_203301 AAH42535;AAH53537;AAH68566;BAG57466;CAD66579;EAW65803;NP_976046;Q7Z6M2 Hs.146632 1780414;1788790;1797518 AI642135;FBXO33_2098;RH135434 BMND12;Fbx33;c14_5247 F-box only protein 33;OTTHUMP00000178899 APPROVED protein-coding 19833 16441 609103;612560 REVIEWED 1322937 FBXO39 F-box protein 39 Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 6705336 6716755 + 6620296 6631689 + 6679552 6690965 + 737633;1580863;6480464 12477932 15520277;15489334;21338577 162517 I3L1J5;I3L210;Q8N4B4 ABBA01054838;AC034305;AI125619;AK308712;AK311148;AMYH01008061;BC034782;BM554273;CH471108;DB524242;HC044849;NM_153230 AAH34782;CBH30754;EAW90286;NP_694962;Q8N4B4 Hs.368364 1660238 RH48221 FLJ18190;FLJ98753;Fbx39;MGC35179 F-box only protein 39;OTTHUMP00000128239 APPROVED protein-coding ENSG00000177294 28565 16444 609106 VALIDATED 1320823 FBXO34 F-box protein 34 Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 14 14 14 q22.3 35787506 35869721 + 54807832 54890082 + 55738021 55820329 + 1580863;6480464 16344560;15761153;15520277;15489334;14702039;12477932;8125298;16169070;22318606 55030 G3V2U9;Q9NWN3 ABBA01018204;ABBA01018205;ABBA01018206;AI911690;AK000732;AK092873;AK092879;AK225367;AL158801;AL834124;AMYH01005744;AMYH01005745;AMYH01005746;BC063526;BC095482;BC109120;BC109121;BF977310;BX248268;CA428544;CH471061;CR457249;DA228125;HI573948;NM_017943;NM_152231 AAH95482;AAI09121;AAI09122;BAA91346;CAD62596;CAG33530;CBX47463;EAW80669;EAW80670;EAW80671;NP_060413;NP_689417;Q9NWN3 Hs.525348;Hs.654725 1644012;1660329;1797520;1846958;1858151 D14S962;FBXO34_1842;G35815;WI-11779;WI-20861 CGI-301;DKFZp547C162;FLJ20725;Fbx34;MGC126434;MGC126435 F-box only protein 34;OTTHUMP00000244931;protein CGI-301 APPROVED protein-coding ENSG00000178974 20201 16442 609104 VALIDATED 1312431 FBXO42 F-box protein 42 Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010] 1 1 1 p36.23-p36.11 15056452 15158874 - 16449146 16551535 - 16576559 16678948 - 737633;6480464 12477932 19509332;16710414;15520277;18247557;21145461;15489334;14702039;10718198;21127074;20972266;21906983 54455 Q6P3S6 AB037753;ABBA01004671;ABBA01004672;ABBA01004673;ABBA01004674;ABBA01004675;ABBA01004676;ABBA01004677;ABBA01004678;AK025059;AK055598;AK310671;AL109627;AL358794;AL833207;AL833874;AMYH01000280;AMYH01000281;BC006174;BC032439;BC043410;BC047296;BC063864;CH471167;NM_018994 AAH06174;AAH32439;AAH43410;AAH63864;BAA92570;BAG51542;CAD38731;EAW51774;EAW51775;NP_061867;Q6P3S6 Hs.522384 1683928;1693086;1699364;1701118;1707924;1769659;2108091;2118606;2182625 AL010086;AL034273;FBXO42__7652;RH103269;RH104187;RH93194;SHGC-64091;SHGC-74271;SHGC-82214 Fbx42;JFK;KIAA1332 F-box only protein 42;OTTHUMP00000002236;just one F-box and Kelch domain-containing protein APPROVED protein-coding 29249 609109 PROVISIONAL 1351223 FBXO41 F-box protein 41 Members of the F-box protein family, such as FBXO41, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 2 2 2 p13.2 73332638 73347586 - 73335308 73351551 - 73481810 73496758 - 1580863;6480464 15070733;15815621;15520277;14702039;12477932;11853319;17043677 150726 J3KNB0;Q8TF61 AB075820;ABBA01075579;AC010913;AK055121;AK095028;AK127503;AMYH01010436;BC112202;CH471053;CR936834;NM_001080410;R45456 AAI12203;BAB85526;BAG54515;EAW99736;NP_001073879;Q8TF61 Hs.23158 1663723;1663725;1683958;1722015;1734952;1767847;2125320 A006A27;D2S1707E;G20653;G59894;RH91757;WI-12451;WIAF-2130 FLJ37709;Fbx41 F-box only protein 41;OTTHUMP00000225956 APPROVED protein-coding ENSG00000163013 29409 609108 VALIDATED 1349858 FBXO45 F-box protein 45 Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011] 3 3 3 q29 194877764 194897967 + 197780122 197800327 + 196295725 196315930 + 6480464 16012741;15520277;19581926;19615732;19398581;21139048;21906983;22505724;22797925 200933 C9JLC0;P0C2W1 ABBA01033744;AC092933;AK025697;AMYH01013795;BE047625;BE778263;CA445163;CH471191;DB636510;NM_001105573 AAI72382;EAW53643;EAW53644;NP_001099043;P0C2W1 Hs.169815 1664809;1669466;1671373;1679121;1698444;1772854;1773477;2111874;2116235;2119480;2186281;5014732;5015881;5017266;5022578;5037552 D1S1423;D3S3440;D3S4033;D3S4124;D8S2279;G38229;GDB:335751;L18506;NIB2025;RH102770;RH66305;RH80690;SHGC-77693;SHGC-77694;SHGC-77696;WI-22352 Fbx45 F-box only protein 45;F-box/SPRY domain-containing protein 1;OTTHUMP00000208257;hFbxo45 APPROVED protein-coding ENSG00000174013 29148 609112 VALIDATED 1316856 FBXO4 F-box protein 4 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 5 5 5 p12 41813649 41829966 + 41961113 41977429 + 41925356 41941672 + 1580863;6480464;6907045 18598945;16275645;17353931;10531035;22013077;17081987;16581786;16344560;15520277;15489334;15302935;14702039;12477932;10828603;10531037;20159592;20181953;17207965;21242966;19487455;21946088;16278047;19322201;19343786 26272 B3KNA0;D6RAJ6;D6RAU6;D6REP2;Q9UKT5 ABBA01024237;AC034222;AF129534;AF176703;AK001003;AK024075;AMYH01015051;AU143782;BC040011;BC048098;CH471119;CR749719;NM_012176;NM_033484 AAF03703;AAF04468;AAH48098;ADQ32475;BAA91463;BAG51262;CAH18486;EAW56019;EAW56020;NP_036308;NP_277019;Q9UKT5 Hs.165575 1662868;1662870;1663255;1795822;1854964;5015619;5015881;5017814;5021872;5022200;5037552;5109281 A006I14;D11S3114;D1S1425;D8S2279;FBXO4;FBXO4_635;G20839;GDB:335751;L18426;RH46228;SHGC-32040;sY3084 DKFZp547N213;FBX4;FLJ10141 F-box only protein 4;F-box protein Fbx4;OTTHUMP00000120029;OTTHUMP00000120030;OTTHUMP00000221209 APPROVED protein-coding ENSG00000151876 13583 09949 609090 REVIEWED 1320304 FBXO40 F-box protein 40 Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 3 3 3 q13.33 119721852 119758855 + 122794860 122831829 + 121312170 121349139 + 6480464 18029348;17928169;16344560;15520277;15489334;12477932;10574462;19734545;21906983;22939624;23223146 51725 Q7Z2T7;Q9UH90 AB033021;ABBA01016480;ABBA01016481;AC063920;AC069239;AF163259;AF204674;AK314400;AMYH01013425;BC109275;BC109276;CH471052;DB081227;NM_016298 AAF17085;AAI09276;AAI09277;AAQ13588;BAA86509;BAG37024;EAW79507;EAW79508;NP_057382;Q9UH90 Hs.272564 5015961;5037552 D15S1477;D8S2279 FBX40;KIAA1195;MGC129902;MGC129903 F-box only protein 40;OTTHUMP00000215186;muscle disease-related protein APPROVED protein-coding ENSG00000163833 29816 12368 609107 VALIDATED 1322999 FBXO38 F-box protein 38 5 5 5 q32 143842908 143901761 + 147743739 147802592 + 147763546 147822399 + 6480464 15498874;15489334;15302935;14729953;14702039;12477932;19615732;20549515;21832049;16344560;21139048;21890473;20360068;21963094;21988832;22699663;22939624 81545 Q6AZE0;Q6PIJ6 ABBA01026317;AC091948;AC114939;AF177339;AF251055;AK024024;AK308414;AK313558;AL832841;AMYH01015699;BC005849;BC005873;BC015366;BC033454;BC047743;BC050424;BC056147;BC078159;BI459318;CH471062;DA399611;NM_001271723;NM_030793;NM_205836 AAG17983;AAH05849;AAH05873;AAH15366;AAH33454;AAH50424;AAH56147;AAH78159;AAK34945;BAB14783;EAW61805;EAW61806;EAW61807;EAW61808;NP_001258652;NP_110420;NP_995308;Q6PIJ6 Hs.483772 5023404 WI-17124 Fbx38;MOKA;SP329 F-box only protein 38;OTTHUMP00000160381;OTTHUMP00000160382;OTTHUMP00000223924;modulator of KLF7 activity homolog protein-coding ENSG00000145868 28844 09775 608533 VALIDATED 1321003 FBXO43 F-box protein 43 Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 8 8 8 q22.2 97330985 97343496 - 101214835 101227252 - 101145588 101158099 - 6480464 18550795;16456547;16407128;16344560;15753281;15520277;15489334;12477932 286151 E5RHI5;Q4G163 ABBA01037563;AC021590;AI198884;AK310518;AMYH01018925;BC028709;BC090892;BG391951;DA996924;DB056068;DB088246;NM_001029860;NR_036491 AAI56851;NP_001025031;Q4G163 Hs.339577 5014051;5021872;5022651 D11S2921;D8S2278;sY3084 EMI2;ERP1;Fbx43 F-box only protein 43;OTTHUMP00000227561;early mitotic inhibitor 2;endogenous meiotic inhibitor 2 APPROVED protein-coding ENSG00000156509 28521 18777 609110 VALIDATED 1318136 FBXO46 F-box protein 46 Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 q13.3 43020015 43040278 - 50905727 50925991 - 46213887 46234151 - 737633;6480464 12477932 17081983;15520277;15489334;9585442;18247557;21145461;19159283;22589738 23403 K7EKF1;K7ERN4;Q6PJ61 ABBA01040946;ABBA01040947;ABBA01040948;AC007191;AC007774;AMYH01009855;BC008046;BC013570;BC021978;BC046245;NM_001080469;Y10936 AAH21978;CAA71862;NP_001073938;Q6PJ61 Hs.128702 20D7-FC4;FBXO34L;Fbx46 F-box only protein 34-like;F-box only protein 46 APPROVED protein-coding ENSG00000177051 25069 609117 PROVISIONAL 1606989 FBXO44 F-box protein 44 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Four alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10826494 10835441 + 11637019 11645971 + 11714432 11723384 + 6480464 21145461;21640084;16710414;15520277;15489334;14702039;12477932;12383498;10531035;18203720;19615732;20057081;17207965;23086937;22318606;17215248;19159283;20682791;23314748 93611 B7Z1P2;Q9H4M3;R4GMZ8;R4GNH4 ABBA01003054;ABBA01003055;AK055344;AK293721;AK294053;AK296025;AK301418;AK316284;AK316347;AL031731;AMYH01000256;AMYH01000257;AY007380;AY040878;BC007832;BM903606;CH471130;CR749368;NM_001014765;NM_033182;NM_183412;NM_183413 AAG09623;AAH07832;AAK77940;ADQ32661;BAG51504;BAH11578;BAH11660;BAH12240;BAH13479;BAH14655;BAH14718;CAH18221;EAW71690;EAW71691;EAW71692;EAW71693;EAW71694;EAW71695;NP_001014765;NP_149438;NP_904319;NP_904320;Q9H4M3 Hs.556006 1701112;1732816;1771319;1777494;2141183;2171891;2218772 A004M25;D1S1264;FBXO44__4769;IB1204;IB3322;RH104184;WI-15845 DKFZp781J0852;FBG3;FBX30;FBX6A;Fbx44;Fbxo6a;MGC14140 F-box gene 3;F-box only protein 44;F-box protein FBX30;F-box/G-domain protein 3;OTTHUMP00000002063;OTTHUMP00000002064;OTTHUMP00000002065;OTTHUMP00000002242;OTTHUMP00000035894;OTTHUMP00000035896 APPROVED protein-coding ENSG00000132879 24847 16445 609111 REVIEWED 1606618 FBXO47 F-box protein 47 17 17 17 q12 33753667 33784641 - 34346244 34377181 - 37092685 37123655 - 16344560;15723337;12477932;23251661 494188 Q5MNV8 ABBA01031891;ABBA01031892;ABBA01031893;AC006441;AMYH01008370;AMYH01008371;AMYH01008372;AY700575;BC140879;BC140880;CH471152;DB340247;NM_001008777 AAI40880;AAI40881;AAV91324;EAW60546;NP_001008777;Q5MNV8 Hs.549536 2149925 G09679 F-box only protein 47 protein-coding ENSG00000204952 31969 16886 609498 VALIDATED 1605751 FBXO48 F-box protein 48 2 2 2 p13.3 68539478 68544370 - 68543002 68547894 - 68689498 68694390 - 6480464 12477932;22190364 554251 Q5FWF7 ABBA01075486;AC127383;AMYH01010419;BC089423;CH471053;DQ904332;NM_001024680 AAH89423;ABI98402;EAW99873;NP_001019851;Q5FWF7 Hs.164117 F-box only protein 48;OTTHUMP00000202032 protein-coding ENSG00000204923 33857 18694 PROVISIONAL 1344741 FBXW10P1 F-box and WD-40 domain protein 10 pseudogene 1 446204 17374 1352122 FBXO6 F-box protein 6 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 10836207 10846475 + 11646768 11656998 + 11724150 11734411 + 1580863;6480464;6907045 16710414;22268729;22292078;10531035;21640084;15489334;12939278;12477932;12383498;10945468;10531037;19716789;17207965;15723043;21906983;17215248;17494702;18203720;21062743;21988832;22939624;23233672;23464991;22190034 26270 J3KQ72;Q9NRD1 ABBA01003055;ABBA01003056;ABBA01003057;AF129536;AF233223;AK314989;AL031731;AMYH01000257;AMYH01000258;BC020880;CH471130;NM_018438 AAF04470;AAF67153;AAH20880;ADQ32156;BAG37485;EAW71696;NP_060908;Q9NRD1 Hs.464419 1681610;1734206;1771319;1795824;2141183;2171891;5021872;5022200;5022651;5122249 Bdy91f02;D11S2921;D1S1742E;FBXO6_1418;IB1204;IB3322;L18426;RH80622;WI-15845;sY3084 FBG2;FBS2;FBX6;Fbx6b F-box only protein 6;F-box protein FBG2;F-box protein Fbx6;F-box protein that recognizes sugar chains 2;F-box/G-domain protein 2;OTTHUMP00000002267;OTTHUMP00000002268 APPROVED protein-coding ENSG00000116663 13585 07291 605647 REVIEWED 1349057 FBXW11P1 F-box and WD repeat domain containing 11 pseudogene 1 21 21 21 q22.11 18182702 18184305 - 31921441 31922774 - 32999370 33000973 - 10830953 54099 ABBA01057291;AMYH01012198;AP000252;NG_000930 BTRC2P;FBXW1BP;FBXW1BP1 f-box and wd-40 domain protein 11 pseudogene 1 pseudo 1145 INFERRED 1316882 FBXO8 F-box protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008] 4 4 4 q34.1 172483541 172531150 - 175394384 175441977 - 175157809 175205402 - 1580863;6480464 14702039;12975309;12477932;10531037;10531035;15489334;10945468;18029348;18987618;17207965;20848231;18094045;19322201;23400010 26269 D6RIC0;D6RJ92;G5E9Z0;Q8IXA8;Q9NRD0 ABBA01070386;ABBA01070387;AC097653;AF115514;AF174596;AF201932;AF233224;AK026319;AK123740;AK314483;AL602916;AMYH01014723;AY358721;BC014679;BC014903;BC040456;CH471056;NM_012180 AAF04517;AAF67154;AAF86868;AAH14679;AAH40456;AAO06951;AAQ89083;ADQ32317;BAG37087;BAG53949;EAX04741;EAX04742;EAX04743;EAX04744;EAX04745;NP_036312;Q9NRD0 Hs.76917 1645606;1653623;1655761;1795828;5092812 A006G26;D4S2676;FBXO8_637;G32346;SHGC-67414 DC10;FBS;FBX8 F-box only protein 8;F-box protein Fbx8;F-box/SEC7 protein FBS;OTTHUMP00000218882;OTTHUMP00000218883 APPROVED protein-coding ENSG00000164117 13587 07293 605649 REVIEWED 1319734 FBXO5 F-box protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008] 6 6 q25.2 153333351 153345867 - 153291658 153304740 - 1580863;6480464 11988738;12791267;16921029;15469984;15148369;19211842;18204430;17676996;17609108;17485488;17234884;17190794;16861914;16439210;16344560;15489334;14702039;14574404;12703993;12477932;11976684;11389834;10828603;10531037;10531035;10409428;11751633;18247557;21454540;17719540;19822658;20641033;20800603;20717963;23086937;18029348;19475398;20360068;21139048;22318606;22623531;17463251;23202783;21988832;22995332;23000965;22017875;18662541 26271 Q9UKT4 ABBA01025614;AF129535;AJ420499;AK026197;AK055221;AK314456;AL080276;AMYH01016749;AMYH01016750;AY079515;BC018905;BG944882;BI838832;CH471051;DB122061;NM_001142522;NM_012177 AAF04469;AAH18905;AAL86610;ABM82848;ABM86032;BAG37064;BAG51487;EAW47718;EAW47719;EAW47720;NP_001135994;NP_036309;Q9UKT4 Hs.520506 1721965;2158878;2184154 G59868;RH46915;RH68113 EMI1;FBX5;Fbxo31 F-box only protein 5;F-box protein Fbx5;OTTHUMP00000017453;OTTHUMP00000017454;early mitotic inhibitor 1 APPROVED protein-coding ENSG00000112029 13584 09348 606013 REVIEWED 1344414 FBXW10 F-box and WD repeat domain containing 10 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 17 17 p12 18588051 18623387 + 18647326 18682662 + 6480464 16344560;15520277;12477932;11230166;21145461;20498703 10517 J3QLH9;Q5XX13 ABBA01017969;ABBA01017970;ABBA01017971;AC107982;AK310383;AL136822;AMYH01008180;AY729024;BC028364;BI828401;DB055860;HC006954;NM_001267585;NM_001267586;NR_051988 AAH28364;AAU43731;CAB66756;CBH19282;NP_001254514;NP_001254515;Q5XX13 Hs.592128 1720127;1848274;2108767;2115892 D17S1686;D17S725;FBXW10_9126;RH123806 Fbw10;HREP;SM25H2;SM2SH2 F-box and WD-40 domain-containing protein 10;F-box protein;F-box/WD repeat-containing protein 10;OTTHUMP00000065073;OTTHUMP00000065074;OTTHUMP00000194779;ubiquitin ligase specificity factor;ubiquitin ligase-specificity factor APPROVED protein-coding ENSG00000171931 1211 06851 611679 VALIDATED 1345122 FBXW4P1 F-box and WD repeat domain containing 4 pseudogene 1 22 22 22 q11 7419472 7421710 + 21934691 21937280 + 23604954 23607192 + 6480464 14702039;10531037;10531035;10405324;9635407;7665185;6319012;15070733 26226 Q9H7J7 ABBA01055106;AF174606;AI432341;AK024483;AK314175;AMYH01012641;AP000343;BP385887;BX091573;NG_009244;NR_033408;U07000 AAB60391;AAF04527;BAB15773 Hs.729589 1676049;2121612;5492633 RH11197;RH70541;UniSTS:481860 FBW3;FBXW3;FLJ94893;SHFM3P1 pseudo 13609 VALIDATED 1321245 FBXO9 F-box protein 9 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008] 6 6 6 p12.3-p11.2 54591593 54627465 + 53037755 53073630 + 52929796 52965671 + 1580863;6480464 10531035;10531037;15520277;15489334;14702039;14574404;12477932;10508479;8889549;21145461;20459822;15840729;21890473;17463251;22939624 26268 C9IY65;C9J4V1;C9JDZ9;H7C4H6;H7C5G3;Q9UK97 AA132361;AA890006;AB209833;ABBA01050544;ABBA01050545;AF174597;AF176704;AK021559;AK095307;AK095315;AL031178;AL137520;AMYH01016356;AY858798;BC000650;BC024973;BX641082;CH471081;NM_012347;NM_033480;NM_033481 AAF03704;AAF04518;AAH00650;AAW51115;BAD93070;BAG51038;CAB70786;EAX04405;EAX04406;EAX04407;EAX04408;EAX04409;EAX04410;NP_036479;NP_258441;NP_258442;Q9UK97 Hs.216653 1679119;1688241;1722369;1735608;1767445;1797524;1855578;2143365;2164009;2164011;2166531;5016478;5023254;5037552 A005M20;D6S1177E;D6S1198E;D6S1204E;D8S2279;FBXO9_1888;G20333;G60256;GDB:434012;RH12607;RH25222;RH75014;STS-R73399;WI-14284 DKFZp434C0118;FBX9;KIAA0936;NY-REN-57;VCIA1;dJ341E18.2 F-box only protein 9;F-box protein Fbx9;OTTHUMP00000016628;OTTHUMP00000016629;OTTHUMP00000214588;cross-immune reaction antigen 1;renal carcinoma antigen NY-REN-57 APPROVED protein-coding ENSG00000112146 13588 16434 609091 REVIEWED 1313800 FBXO7 F-box protein 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008] 22 22 q12-q13 31200707 31224818 + 32870707 32894818 + 1580863;6480464;7240710 18247557;21145461;23318512;15145941;10531035;19038853;18495667;16581786;16510124;16381901;15489336;15489334;15461802;14702039;12529303;12527899;12477932;11076863;10945468;10737800;10591208;10531037;20669327;11256614;19615732;19820697;20603184;21139048;21347293;21890473;21906983;21963094;21378169;16196087;21695055;18624398;22212761;16278047;22490479;20301402;21988832;23133663;23656991;23222517;23196729;22505724 25793 A2A281;A2A282;F8WBR0;F8WDR9;Q9Y3I1 ABBA01055378;ABBA01055379;AF129537;AF233225;AK054739;AK226087;AK291972;AK297841;AK301716;AL021937;AL035068;AL050254;AMYH01012728;BC008361;BC041004;BI821903;BQ326686;BU584368;BX362053;BX409547;BX648151;BX648220;BX648644;CH471095;CR456491;NG_016001;NM_001033024;NM_001257990;NM_012179;Z71183 AAF04471;AAF67155;AAH08361;ABW03590;ABW03591;BAF84661;BAG60175;BAG63187;CAB43356;CAG30377;CAI46263;CAK54519;CAK54818;CAL37618;EAW60023;EAW60024;EAW60025;EAW60026;NP_001028196;NP_001244919;NP_036311;Q9Y3I1 Hs.5912 1795826;1799854;1799910;1800148;1801240;1805234;1807146;1812728;1813870;1816532;1818790;1819238;1819836;1820768;1822444;1823504;1823928;1827574;1829122;1830280;1831080;1831374;1832390;1834300;1834972;1840516;1844140;2014230;2014232;2014234;2014236;2014238;2014240;2014242;2014244;2014246;2014248;2014250;2014252;2014254;2014256;2014258;2014260;2014262;2014264;2014266;2014268;2014270;2014272;2014274;2014276;2014278;2014280;2014282;2014284;2014286;2014288;2014290;2014292;2014294;2014296;2014298;2014300;2014302;2014304;2014306;2014308;2014310;2014312;2014314;2014316;2014318;2014320;2014322;2014324;2014326;2014328;2014330;2014332;2014334;2014336;2014338;2014340;2014342;2014344;2014346;2014348;2014350;2014352;2014354;2014356;2014358;2014360;2014362;2014364;2014366;2014368;2014370;2014372;2014374;2014376;2014378;2014380;2014382;2014384;2014386;2014388;2014390;2014392;2014394;2014396;2014398;2014400;2014402;2014404;2014406;2014408;2014410;2014412;2014414;2014416;2014418;2014420;2014422;2014424;2014426;2014428;2014430;2014432;2014434;2014436;2014438;2014440;2014442;2014444;2014446;2014448;2014450;2014452;2014454;2014456;2014458;2014460;2098814;2098816;2098818;2098820;2098822;2098824;2098826;2098828;2098830;2098832;2098834;2098836;2098838;2098840;2098842;2098844;2098846;2098848;2098850;2167690;2171147;2171347;5022588;5037552 A002E09;D22S1127;D5S1597E;D8S2279;ECD00781;ECD00809;ECD00930;ECD01492;ECD03561;ECD04539;ECD07375;ECD07961;ECD09308;ECD10459;ECD10686;ECD10988;ECD11459;ECD12310;ECD12843;ECD13058;ECD14904;ECD15688;ECD16274;ECD16676;ECD16823;ECD17334;ECD18298;ECD18637;ECD21445;ECD23283;FBXO7_1644;REN78054;REN78055;REN78056;REN78057;REN78058;REN78059;REN78060;REN78061;REN78062;REN78063;REN78064;REN78065;REN78066;REN78067;REN78068;REN78069;REN78070;REN78071;REN78072;REN78073;REN78074;REN78075;REN78076;REN78077;REN78078;REN78079;REN78080;REN78081;REN78082;REN78083;REN78084;REN78085;REN78086;REN78087;REN78088;REN78089;REN78090;REN78091;REN78092;REN78093;REN78094;REN78095;REN78096;REN78097;REN78098;REN78099;REN78100;REN78101;REN78102;REN78103;REN78104;REN78105;REN78106;REN78107;REN78108;REN78109;REN78110;REN78111;REN78112;REN78113;REN78114;REN78115;REN78116;REN78117;REN78118;REN78119;REN78120;REN78121;REN78122;REN78123;REN78124;REN78125;REN78126;REN78127;REN78128;REN78129;REN78130;REN78131;REN78132;REN78133;REN78134;REN78135;REN78136;REN78137;REN78138;REN78139;REN78140;REN78141;REN78142;REN78143;REN78144;REN78145;REN78146;REN78147;REN78148;REN78149;REN78150;REN78151;REN78152;REN78153;REN78154;REN78155;REN78156;REN78157;REN78158;REN78159;REN78160;REN78161;REN78162;REN78163;REN78164;REN78165;REN78166;REN78167;REN78168;REN78169;SHGC-53239;stSG602804;stSG602805;stSG602806;stSG602807;stSG602808;stSG602809;stSG602810;stSG602811;stSG602812;stSG602813;stSG602814;stSG602815;stSG602816;stSG602817;stSG602818;stSG602819;stSG602821;stSG602822;stSG602823 DKFZp686B08113;FBX;FBX07;FBX7;PARK15;PKPS F-box only protein 7;OTTHUMP00000028823;OTTHUMP00000064010 APPROVED protein-coding ENSG00000100225 13586 07292 260300;605648 REVIEWED 1319284 FBXW11 F-box and WD repeat domain containing 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008] 5 5 q35.1 171221161 171366482 - 171288556 171433877 - 6480464;6484113;6907045 10531035;15070733;17353931;16865294;15489334;14743216;12481031;12477932;11896578;10694485;10644755;9734811;17121803;14603323;14707120;14681206;15082796;15337770;15485837;15798217;15917222;19966869;12482991;14532120;16085715;16651270;16880511;16885022;17510365;17643375;19159283;19615732;10066435;10230406;10321728;17217622;12165731;18056411;20724472;21807946;18775313;20708156;21900206;21987572;22017877;22215675;21890473;22045853;16775333;16934469;21138764;22669845;22711876;22730322;16338364;18354482;18575781;20881960;21145461;19150432;22851693;18187620;22017875;22190034;22975506 23291 B4DH70;E5RG78;E5RGC1;E5RH92;Q9UKB1 AB014596;AB033279;AB033280;AB033281;ABBA01044063;ABBA01044064;ABBA01044065;ABBA01044066;ABBA01044067;ABBA01044068;ABBA01044069;ABBA01044070;AC011387;AC011410;AC113342;AF176022;AK294956;AK314999;AMYH01015808;AMYH01015809;BC026213;CH471062;NG_009275;NM_012300;NM_033644;NM_033645 AAF04528;AAH26213;ABM82051;ABM85230;BAA31671;BAA92329;BAA92330;BAA92331;BAG37495;BAG58031;EAW61440;NP_036432;NP_387448;NP_387449;Q9UKB1 Hs.484138 1299907;1677844;1693938;1710006;1723841;1780536;1787878;2107091;2141624;2172596;2173371;7185154 D5S429;FBXW11__6861;G16891;G42662;RH10985;RH118656;RH80538;SHGC-173547;SHGC-82273;WI-14938;bac51052T BTRC2;BTRCP2;FBW1B;FBXW1B;Fbw11;Hos;KIAA0696 F-box and WD repeats protein beta-TrCP2;F-box and WD-40 domain protein 11;F-box and WD-40 domain protein 1B;F-box protein Fbw1b;F-box/WD repeat-containing protein 11;F-box/WD repeat-containing protein 1B;OTTHUMP00000223451;OTTHUMP00000223452;OTTHUMP00000223453;beta-transducin repeat-containing protein 2;homologous to Slimb protein APPROVED protein-coding ENSG00000072803 13607 07294 605651 REVIEWED 1352427 FBXW12 F-box and WD repeat domain containing 12 Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 3 3 3 p21.31 48364476 48386962 + 48388713 48411194 + 48413709 48436190 + 15520277;15040455;14702039;12477932 285231 C9JK86;Q6X9E4 ABBA01024651;AC104448;AK097594;AMYH01013149;AY247969;BC101303;BC101304;BC101305;BC101306;CH471055;NM_001159927;NM_001159929;NM_207102 AAI01304;AAI01305;AAI01306;AAI01307;AAP75562;EAW64863;NP_001153399;NP_001153401;NP_996985;Q6X9E4 Hs.288793 FBW12;FBXO12;FBXO35;MGC120385;MGC120386;MGC120387 F-box and WD-40 domain-containing protein 12;F-box only protein 35;F-box- and WD40-repeat-containing protein;F-box/WD repeat-containing protein 12;OTTHUMP00000164809;OTTHUMP00000210035;OTTHUMP00000210036 APPROVED protein-coding ENSG00000164049 20729 16428 609075 VALIDATED 1321373 FBXW2 F-box and WD repeat domain containing 2 F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008] 9 9 9 q34 94167532 94204019 - 122559075 122595561 - 123519254 123555740 - 1580863;6480464 15070733;10531035;18703417;16344560;15640526;14702039;14603323;12477932;10828603;10531037;9635407;7670494;18354482;21145461;19297328;21946088;19398581;22388891;22939624;22975506 26190 Q4VXH1;Q9UKT8 ABBA01016244;AF129531;AF145024;AF176698;AF193594;AK022484;AK025767;AK054580;AK095377;AK300066;AK314385;AL138836;AL161911;AMYH01021688;BC000239;BC018738;BC024204;BC110334;BX537625;CH471090;DA703966;NM_012164;U29107 AAF04465;AAF13226;AAH18738;AAI10335;AAP97276;AAP97280;ABM83271;ABM86476;BAB14051;BAG37010;BAG61872;EAW87470;NP_036296;Q9UKT8 Hs.494985 1654809;1663995;1670151;1677710;1706196;1707458;1720055;2115835;2149990;5016478;5020948;5022200;5022651;5024761;5037552 D11S2921;D8S2279;D9S2079;G35510;GDB:434012;L18426;RH123824;RH36905;RH80045;SHGC-80626;SHGC-84523;STS-N33525;STS-W02136;STS-Z41147;WI-20950 FBW2;Fwd2;MGC117371;Md6 F-box and WD-40 domain protein 2;F-box and WD-40 domain-containing protein 2;F-box/WD repeat-containing protein 2;OTTHUMP00000021994;OTTHUMP00000021995 APPROVED protein-coding 13608 09950 609071 REVIEWED 1315938 FBXW9 F-box and WD repeat domain containing 9 Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] 19 19 19 p13.2 12689444 12697169 - 12660730 12668455 - 12799730 12807455 - 737633;6480464 12477932 21145461;16344560;15520277;15489334;19159283;19615732;21832049;21890473;21906983 84261 B4DZ46;K7EL01;Q5XUX1 ABBA01029780;AC018761;AK123037;AK302744;AMYH01009495;AW083348;AY736034;BC004290;CH471106;DA079240;NM_032301 AAI60094;AAU50678;BAG53859;BAG63958;EAW84295;EAW84296;EAW84297;NP_115677;Q5XUX1 Hs.515154 1728739;2122076 G54157;WI-14066 Fbw9;MGC10870 F-box and WD-40 domain-containing protein 9;F-box and WD-40 repeat containing protein 9;F-box/WD repeat-containing protein 9;OTTHUMP00000196470;specificity factor for SCF ubiquitin ligase APPROVED protein-coding ENSG00000132004 28136 12361 609074 VALIDATED 1603710 FBXW4 F-box and WD repeat domain containing 4 This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008] 10 10 q24 103360411 103444733 - 103370421 103454743 - 6480464 18354482;18575781;8723077;7912888;18765672;10405324;10945468;16761290;16235095;15489334;15232212;15164054;14702039;14699611;14603323;12974740;12913067;12477932;21070969;19596235;21163940;22388891 6468 P57775;Q5SVS2;Q5SVS3 ABBA01063190;ABBA01063191;ABBA01063192;AC010789;AF281859;AK056917;AK123173;AK314735;AL627144;AL627424;AMYH01003008;BC007380;BC063415;CH471066;NG_008091;NM_022039 AAG22739;AAH07380;AAH63415;BAG37276;EAW49751;EAW49752;EAW49753;NP_071322;P57775 Hs.500822 1676049;1725227;1788980;2143714 G65567;RH11197;RH118906;SHGC-32623 DAC;FBW4;FBWD4;SHFM3;SHSF3 F-box and WD-40 domain protein 4;F-box and WD-40 domain-containing protein 4;F-box/WD repeat protein 4;F-box/WD repeat-containing protein 4;OTTHUMP00000020341;dactylin APPROVED protein-coding ENSG00000107829 10847 06994 608071 REVIEWED 1605024 FCAMR Fc receptor, IgA, IgM, high affinity 1 1 q32.1 205198133 205210117 - 207131312 207143970 - 6480464 8145026;19393604;19338768;18379868;15203218;12477932;11779189;11062505;19682689;19945166;20059578;20379614 83953 F8W7R9;Q8WWV6 ABBA01048247;AC098935;AF354295;AI269147;AI478563;AK298394;AMYH01001680;AY063125;AY063126;BC109263;BC109264;BX090153;CD633520;CH471100;DC361666;E15470;NM_001122979;NM_001170631;NM_032029 AAI09264;AAI09265;AAK39522;AAL51154;AAL51155;BAG60629;EAW93513;EAW93514;NP_001116451;NP_001164102;NP_114418;Q8WWV6 Hs.145519 CD351;FCA/MR;FKSG87 Fc alpha/mu receptor;OTTHUMP00000034745;OTTHUMP00000034746;high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor;immunity related factor;receptor for Fc fragment of IgA and IgM protein-coding ENSG00000162897 24692 12020 605484 VALIDATED 1314415 FBXW8 F-box and WD repeat domain containing 8 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.22 116978296 117098473 + 115833144 115953336 + 117348761 117468953 + 6480464;6907045 17998335;15070733;17314511;15489334;14702039;12481031;12477932;10531037;10531035;17332328;18354482;18650423;21145461;20878477;17205132;16142236;19297328;21070969;21890473;20558726;21572988;21946088;17079684;22388891;22504417;23029530;23045529 26259 Q8N3Y1 ABBA01020023;ABBA01020024;AC026368;AC083806;AC127164;AF176707;AK055849;AK289621;AMYH01004779;AMYH01004780;AMYH01004781;BC037296;BC045190;CH471054;NM_012174;NM_153348 AAF03129;AAH37296;BAF82310;EAW98094;EAW98095;EAW98096;EAW98097;NP_036306;NP_699179;Q8N3Y1 Hs.624537;Hs.696428 1686853;1694950;1698400;1699494;1713921;1723423;1737033;1746743;1765493;1778842;2115262;2124885 D11S2783;G44375;G64760;RH102742;RH103340;RH118527;RH119390;RH69770;RH98353;SHGC-148976;SHGC-58215;WI-17693 FBW6;FBW8;FBX29;FBXO29;FBXW6;MGC33534 F-box and WD-40 domain-containing protein 8;F-box only protein 29;F-box/WD repeat-containing protein 8;OTTHUMP00000240832;OTTHUMP00000240833 APPROVED protein-coding ENSG00000174989 13597 16427 609073 REVIEWED 1347453 FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 4 4 q31.3 153461860 153675622 - 153242410 153456393 - 1580863;6480464;6484113;6907045 15070733;17157259;12354302;19420964;19366810;19351817;19340001;19245433;19124506;19109228;19084516;18938137;18931460;18787170;18784078;18765672;18676680;18660489;18625840;18559665;18541364;18485478;18428053;18414042;18391985;18094723;17992009;17909001;17873522;17646409;17646408;17588203;17320938;17274947;16938571;16863506;16344560;16210249;16169070;16054087;16023596;15611062;15498494;15489334;15467469;15150404;15103331;14999283;14871801;14743216;14739463;14702039;14648662;14603323;14536078;14507635;12628165;12477932;12183400;11585921;11565034;11565033;11533444;11461910;11425854;22797700;12904573;15364936;17189384;19193609;20571051;21205095;21254166;22576686;22864569;10531037;8125298;7829101;18198341;21147854;15917200;17434132;17558397;19111882;19170196;19587092;19625176;19635999;19679664;19692168;19739118;19847202;20332316;20484041;20388706;15980150;20826802;20861909;20622901;20448329;20638938;20534483;16818231;20852628;20861920;20944675;20338046;22923510;20683149;20558726;20815813;21070969;21134077;22608923;21220517;21368833;23022380;21122106;21798897;17314511;19794083;21620836;21860413;19423708;20890303;21835957;21964756;19126544;20970423;21820430;23228967;21953459;22144179;15520277;20848231;22108521;22388891;22405651;21597324;22399798;22848434;22939624;23453757;22426484;22270966;23040356;23166673;23219661;16338364;17298674;17526737;17909182;18354482;21145461;22285861;22513362;23232523;23558291;22708077;23324394;22814294;23082202;23095493;23322298;22710716;23507969;23514585;23623971;21098119;22975506;23108047 55294 B7Z2C8;G0Z2K0;Q969H0 AB209725;ABBA01070122;ABBA01070123;AC023424;AC080078;AF383178;AF411971;AF411972;AI598129;AK001933;AK131383;AK223449;AK294568;AK299722;AK315142;AMYH01014621;AW965611;AY008274;AY033553;AY049984;BC014503;BC037320;BC059373;BC117244;BC117246;BC143944;BF514288;BI496455;BX498391;CH471056;CR749305;DA321362;HQ873864;HQ873865;HQ873866;HQ873867;HQ873868;HQ873869;HQ873870;NG_029466;NM_001013415;NM_001257069;NM_018315;NM_033632;W39194 AAG16640;AAH37320;AAI17245;AAI17247;AAI43945;AAK57547;AAK60269;AAL06290;AAL06291;AAL07271;ADR83102;AEK48270;AEK48271;AEK48272;AEK48273;AEK48274;AEK48275;AEK48276;BAA91986;BAD92962;BAD97169;BAH11814;BAH13109;CAH18160;EAX04977;EAX04978;EAX04979;NP_001013433;NP_001243998;NP_060785;NP_361014;Q969H0 Hs.561245;Hs.717081 1644556;1645892;1676402;1710374;1754771;1797094;2130400;2175193;2180205;5016037 D4S957;DKFZP434I0714;Fbxw7;GDB:313807;RH16593;SHGC-33385;SHGC-34878;SHGC-59612;SHGC-67303;SHGC-82456 AGO;CDC4;DKFZp686F23254;FBW6;FBW7;FBX30;FBXO30;FBXW6;FLJ16457;SEL-10;SEL10;hAgo;hCdc4 F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila);F-box and WD-40 domain-containing protein 7;F-box protein FBW7;F-box protein FBX30;F-box protein SEL-10;F-box/WD repeat-containing protein 7;archipelago;archipelago homolog;archipelago, Drosophila, homolog of;hAgo;hCdc4;homolog of C elegans sel-10 APPROVED protein-coding ENSG00000109670 16712 05888 606278 REVIEWED 1313822 FBXW5 F-box and WD repeat domain containing 5 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110349118 110353404 - 138954708 138958994 - 139834885 139839206 - 6480464 19232515;15070733;18381890;16189514;15498874;15489334;15164053;14702039;12477932;10531037;10531035;18765672;18247557;18354482;21145461;22910413;19615732;20237496;19159283;23314863;21725316;8889548;21900206;21987572;21139048;21890473;21906983;17079684;22388891;14603323;21963094;22939624;23000965;22053931 54461 Q5SQ04 AB209726;ABBA01022732;AF217998;AF258569;AK026081;AK315738;AL137631;AL807752;AMYH01021881;BC000850;BC004541;BC009429;BC014130;BC014297;BC031100;BC035355;BI829307;CF132404;CH471090;DB460097;EC577580;NG_029580;NM_018998 AAG17240;AAG23772;AAH00850;AAH04541;AAH09429;AAH14130;AAH14297;ADZ15466;BAB15354;BAD92963;BAG38093;CAB70851;EAW88307;EAW88308;EAW88309;EAW88310;EAW88311;EAW88312;EAW88313;EAW88314;EAW88315;NP_061871;Q969U6 Hs.522507 2153907 WI-16174 DKFZp434B205;Fbw5;MGC20962;RP11-229P13.10 F-box and WD-40 domain protein 5;F-box and WD-40 domain-containing protein 5;F-box/WD repeat-containing protein 5;OTTHUMP00000022659;WD repeat-containing F-box protein FBW5 APPROVED protein-coding ENSG00000159069 13613 10955 609072 REVIEWED 7175948 FCF1P11 FCF1 pseudogene 11 7 q34 138883302 138883888 - 100132310 AACC02000025;ABBA01001185;AC009220;AMYH01017975;CH236950;NG_022549 APPROVED pseudo 44623 INFERRED 7175972 FCF1P1 FCF1 pseudogene 1 7 23658952 23662442 + 100422533 AACC02000007;ABBA01056713;AC006026;AMYH01017116;CH236948;NG_026543 APPROVED pseudo 44613 INFERRED 7175227 FCF1P3 FCF1 pseudogene 3 3 q13.12 106567518 106568107 + 100128733 ABBA01061716;AC068776;AMYH01013375;NG_022263 APPROVED pseudo 44615 INFERRED 7175973 FCF1P6 FCF1 pseudogene 6 1 50871104 50871696 - 100422535 ABBA01074829;AL596275;AMYH01000606;NG_026937 APPROVED pseudo 44618 INFERRED 7175975 FCF1P7 FCF1 pseudogene 7 1 243430920 243431421 - 100422536 ABBA01047217;AC092806;AMYH01001884;NG_027055 APPROVED pseudo 44619 INFERRED 7175974 FCF1P8 FCF1 pseudogene 8 4 56217982 56218575 - 100422531 ABBA01003411;AC064824;AMYH01014190;NG_025107;NG_028230 APPROVED pseudo 44620 INFERRED 736318 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011] 1 1 q23 157526128 157544638 + 159253678 159278014 + 704404;1580863;5128714;5128717;5128711;6480464;6907045 20650300;20937062;21388666 2964640;1535625;19514647;19494509;19372141;19359220;19258923;19245427;19150851;19082920;18846228;18680511;18595682;18523286;18394141;18382690;18356810;18321309;18187193;18179824;18036650;17993265;17965580;17903293;17883736;17703412;17686114;17541278;17521040;17430357;17267694;17165285;17125826;16709862;16581830;16563391;16339523;16237063;16081836;15743766;15696081;15562891;15489334;15373772;15217825;15140034;14746805;14655898;13129935;12902495;12897750;12855579;12671054;12646639;12477932;12270716;12217383;12200378;12070183;11776381;11531339;11409901;10917520;8752908;8613143;8245459;8125119;2967464;2146219;16459334;1533243;1472946;8900182;22384272;9103201;22173243;20603037;20141544;20691829;20126404;20523060;20664273;18726713;19141351;19164348;19385959;19423540;19555572;19685047;19748979;20028371;20117843;20163202;20237496;20406964;20410486;20438785;20503287;21216468;17192395;19697153;21209833;21516097;21738338;21622859;21903095;21958156;22222815;22075330;21725845;21988832;22939635;23251661;22800345 2205 E9PRN1;P12319 A21606;AB059236;ABBA01016619;ABBA01016620;AL513323;AMYH01001444;BC005912;BC015185;BC015195;CH471121;CS544001;J03605;L14075;NM_002001;X06948 AAA16115;AAA36204;AAH05912;AAH15195;ABM84057;ABM87410;ABM87466;BAB84120;CAA01564;CAA30025;CAN36268;EAW52789;NP_001992;P12319 Hs.897 1754063;1850352;2217326 D1S2397;FCER1A_3020;SHGC-132100 FCE1A;FcERI Fc IgE receptor, alpha polypeptide;Fc epsilon RI alpha-chain;Fc-epsilon RI-alpha;OTTHUMP00000035287;OTTHUMP00000035288;fc receptor, ige, high affinity i, alpha polypeptide;high affinity immunoglobulin epsilon receptor alpha-subunit;high affinity immunoglobulin epsilon receptor subunit alpha;igE Fc receptor subunit alpha;immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide APPROVED protein-coding ENSG00000179639 3609 00917 147140 REVIEWED 1344251 FCAR Fc fragment of IgA, receptor for This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.42 60077361 60093651 + 55385549 55401839 + 1580863;6480464;6907045;7242172;7242063;7242064;7242167 18250479;22451718;22147912;21985370 10835685;2258698;19023099;18700185;17975119;17548632;17393381;17339498;17033823;17008591;16990604;16876821;16627486;16293625;15564774;15555551;15489335;15489334;15371488;15085135;14759258;12791088;12783876;12768205;12634059;12594283;12560105;12524384;12477932;11929131;11801662;11478396;11281451;10438530;10380711;10359575;9427690;9367406;8954257;8943858;8917112;8836118;8666916;8666819;8575829;8530370;8408621;7636188;7522255;1577457;8145026;21750160;20811333;18029348;18768864;19497711;19555692;19859085;19892918;20237496;21037509;21383176;21159834;21653835;21784854;21273231;21866091 2204 Q53X38 AB071193;ABBA01068149;AC011501;AF091543;AF091544;AK290922;AMYH01009976;BC027953;CH471135;CU151839;CU459006;CV029531;D87853;D87854;D87855;D87856;D87857;D87858;D87859;D87860;D87861;D87862;DQ075334;DQ075335;DQ075336;DQ075337;DQ075338;DQ075339;EF064738;NM_002000;NM_133269;NM_133271;NM_133272;NM_133273;NM_133274;NM_133277;NM_133278;NM_133279;S82919;U43677;U43774;U56236;U56237;X87765;X87766;X87767;X87769;X90753;X92558;X92559;X92560;X92561;X92562 AAB00566;AAB00567;AAC50595;AAC50639;AAD14421;AAH27953;AAZ76577;AAZ76578;AAZ76579;AAZ76580;AAZ76581;AAZ76582;ABK41921;ABM81861;ABM85024;BAA13471;BAA13472;BAA13473;BAA13474;BAA13475;BAA13476;BAA13477;BAA13478;BAA13479;BAA13480;BAB64914;BAF83611;CAA61039;CAA62276;EAW72291;EAW72292;EAW72293;EAW72294;EAW72295;EAW72296;EAW72297;EAW72298;EAW72299;EAW72300;EAW72301;EAW72302;EAW72303;EAW72304;EAW72305;EAW72306;EAW72307;NP_001991;NP_579803;NP_579805;NP_579806;NP_579807;NP_579808;NP_579811;NP_579812;NP_579813;P24071 Hs.659872 1647780;1649305;5015861;5022651;7185938 D10S16;D11S2921;SHGC-35428;STS-X54150 CD89 Fc alpha receptor;IgA Fc receptor;OTTHUMP00000068691;OTTHUMP00000068692;OTTHUMP00000068693;OTTHUMP00000068694;OTTHUMP00000068695;OTTHUMP00000068696;OTTHUMP00000068697;OTTHUMP00000068698;immunoglobulin alpha Fc receptor APPROVED protein-coding ENSG00000186431 3608 00914 147045 REVIEWED 736226 FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008] 1 1 q23 159451711 159455662 + 161185087 161189038 + 704404;1580863;6480464;6907045 10942756;2138619;9280292;11788586;1535625;9028946;9295288;19362683;18534082;18378679;18292514;17850179;17430357;16710414;15778339;12836193;12626537;12477932;12366784;11980568;11898918;11388899;10825177;10469124;10194433;10049942;8752908;8071371;2146219;22706086;19913121;20628086;20126404;11943772;19423540;20028371;20237496;20406964;20438785;17192395;22664044;12594225;21890473;22150093;22401598;23228155 2207 A6NCQ8;P30273 ABBA01016596;AK307102;AL590714;AMYH01001457;BC033872;CH471121;HC460416;JA738649;M33195;M33196;NG_029043;NM_004106 AAA35828;AAH33872;ABM81708;ABW03303;CBK51078;CCF76977;EAW52623;EAW52624;NP_004097;P30273 Hs.433300 1742445;1847402;2161288;2173294 D1S2585;D1S3434;GDB:197000;RH70304 FCRG Fc receptor gamma-chain;OTTHUMP00000032239;OTTHUMP00000032240;fc receptor, ige, high affinity i, gamma polypeptide;fc-epsilon RI-gamma;fcRgamma;fceRI gamma;high affinity immunoglobulin epsilon receptor subunit gamma;igE Fc receptor subunit gamma;immunoglobulin E receptor, high affinity, gamma chain APPROVED protein-coding ENSG00000158869 3611 00916 147139 REVIEWED 1352648 FCGR1C Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene The gene represents one of three related immunoglobulin gamma Fc receptor genes located on chromosome 1. This family member lacks the transmembrane and coiled-coiled domains found in other family members and is thought to be a pseudogene of Fc-gamma-receptor 1A. [provided by RefSeq, Apr 2009] 1 1 q21.2 147635924 147644999 + 149369294 149378297 + 1300184 9763663 16710414;16344560;11708889;9881690;8697799;7566098;1379234 100132417 A6NKC4 ABBA01151794;AC239798;AL109948;AMYH01001371;BF061349;CA309927;CA748521;DA463656;EB386870;M91647;NR_027484;T29148 A6NKC4 Hs.635062;Hs.77424 1742053;5024336 D1S3356;GDB:190043 CD64;CD64c;FCRIC;IGFR1;IGFRC APPROVED pseudo 3615 601503 REVIEWED 1350128 FCGBP Fc fragment of IgG binding protein 19 19 q13.1 45045803 45132373 - 40353963 40440533 - 6480464 22761039;19432394;18029348;16740002;16341674;16335952;15203218;15084671;15057824;12208673;11600203;9182547;8889548;1984453;19956635;20237496;17938577 8857 M0QXZ1;Q9Y6R7 ABBA01040735;ABBA01040736;ABBA01040737;ABBA01156677;AC006950;AC007842;AC011536;AMYH01009794;BE294466;BM781647;BQ065661;BU731683;BX113070;CD617655;CH471126;D84239;NM_003890 AAD15624;AAD39266;BAA19526;EAW56926;NP_003881;Q9Y6R7 Hs.111732 1665616;2121086;2137795;2176966 A005P42;RH47259;RH78598;WI-17364 FC(GAMMA)BP Human Fc gamma BP;IgG Fc binding protein;IgGFc-binding protein;fcgamma-binding protein antigen;fcgammaBP protein-coding ENSG00000090920 13572 10956 VALIDATED 1322068 FCF1 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) 14 14 14 q24.3 55218214 55241759 + 74249603 74273147 + 75179850 75203394 + 6480464;6907045 16762320;15635413;15198809;14702039;12508121;12477932;11230166;10810093 51077 G3V1S4;G3V2M5;G3V3N8;G3V5D2;G3V5L8;G3V5S9;Q4FZ45;Q9Y324 ABBA01030713;ABBA01030714;AC007956;AF132969;AK021636;AK057060;AK290666;AMYH01005857;BC022361;BC080600;BX248271;BX489015;BX647810;CH471061;NM_015962 AAD27744;AAH80600;BAF83355;CAD62599;CAJ18322;EAW81187;EAW81188;EAW81189;EAW81190;EAW81191;EAW81192;EAW81193;NP_057046;Q9Y324 Hs.579828;Hs.711584 1643998;1647064;1649575;1768734;1772928;2124173;2149151;2180775;5015404;5020740;5022578;5024413;5123006 D14S915;D1S1423;G35454;G35513;G35628;G35649;G35864;G36210;L17705;L17809;L17877;SGC33959;WI-11347 Bka;C14orf111;CGI-35;MGC99629;UTP24 OTTHUMP00000246145;OTTHUMP00000246148;OTTHUMP00000246149;chromosome 14 open reading frame 111;rRNA-processing protein FCF1 homolog protein-coding ENSG00000119616 20220 12633 VALIDATED 1320511 FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 q21.2-q21.3 148020912 148030698 + 149754250 149764074 + 1300184;1580863;5147925;6480464;6907045 9763663;19106808 18974296;18023480;7687898;18322202;10879688;19250681;19011162;18941257;18826388;18606652;18604302;18321309;18320015;18279703;18207250;18071883;18063701;17827066;17764536;17621550;17511516;17124586;17005690;16603696;16140266;15883031;15878871;15528366;15340161;15252450;15251320;15229321;15087090;14728877;12830330;12756162;12581186;12524384;12477932;12471137;12377934;12217397;12200451;12130529;12006325;11714794;11708889;11359830;11141335;10933786;10781611;10421785;9842885;9820532;8697799;8530370;8270248;8064233;7516890;2974947;2911749;2852656;1837149;1830050;1430234;1402657;1379234;9490697;21438869;18798798;19144150;19635920;19833736;20071662;20080725;20109752;20306688;20418097;20650300;21239714;20840056;21325219;21965667;22237765;22251373;22493081;21061041;22003208;21243031;22420242;23293080;22967788;23023090;21832933;23452299 2209 C9JSN8;P12314 AC243772;AK291451;AK291502;AL591493;AMYH01001373;BC032634;BC152383;DC320241;DQ786309;L03418;M63830;M63831;M63832;M63833;M63834;M63835;M91555;NG_007578;NG_033089;NM_000566;S45709;X14355;X14356 AAA35678;AAA36049;AAA58414;AAD13842;AAH32634;AAI52384;ABM81768;ABM84923;BAF84140;BAF84191;CAA32536;CAA32537;CAI12556;CAI12557;NP_000557;P12314 Hs.77424 1742053;5024336;5124887 D1S3356;GDB:190043;RH69162 CD64;CD64A;FCRI;FLJ18345;IGFR1 Fc gamma receptor;Fc-gamma RI;Fc-gamma receptor I A1;IgG Fc receptor I;OTTHUMP00000013913;OTTHUMP00000037678;fc-gamma RIA;fcgammaRIa;high affinity immunoglobulin gamma Fc receptor I APPROVED protein-coding ENSG00000150337 3613 00904 146760 REVIEWED 1354370 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 19 19 p13.3 7659662 7672997 - 7753643 7767032 - 1580863;6480464;6484113 12149502;8450224;21526166;2529542;7544003;19290077;19258923;18697825;18636124;18616759;18568448;18183502;18032710;17980418;17703412;17635803;17576766;17570115;17540777;17493235;17301828;16899715;16896156;16831589;16765898;16344560;16172256;16143132;16083870;16009564;15883744;15843555;15795251;15621797;15569053;15565166;15489334;15469741;15272865;12777399;12731041;12576441;12477932;12456589;12379312;12127555;12127553;12070780;12022472;12002758;11920534;10037797;9680363;8766552;8745401;8552454;8432525;8142907;8125298;7621072;7515913;3034567;2972386;2949326;2877743;1717997;1446976;1417742;1387715;11500085;12853962;22560905;21724429;22815482;21307287;20831712;20805040;18657051;19170196;19223373;19423540;19635918;19663668;19805542;19845913;20237496;20406964;20438785;20503287;21160045;20359104;21860351;21241315;21686206;21081493;21889131;22059556;21958076;22393152;22304573;22348662;22802656;22767513;19449444;21328056 2208 K3W4U1;M0R1R5;P06734 ABBA01010889;ABBA01010890;ABBA01010891;AC008763;AK223207;AK310071;AK310707;AMYH01009412;BC014108;BC062591;BC064417;CH471139;DA957269;DB333832;FN597088;FN597089;FN597090;FN597091;FN597092;FN597093;FN597094;FN597095;FN597096;FN597097;FN597098;FN597099;FN597100;FN597101;FN597102;FN597103;FN597104;FN597105;FN597106;FN597107;FN597108;FN597109;FN597110;M14766;M15059;M23562;NG_029554;NM_001207019;NM_001220500;NM_002002;S81114;S81115;X04772 AAA52433;AAA52434;AAA52435;AAB35925;AAB35926;AAH14108;AAH62591;ABM83161;ABW03476;BAD96927;CAA28465;EAW69004;EAW69005;EAW69006;EAW69007;EAW69008;EAW69009;EAW69010;EAW69011;NP_001193948;NP_001207429;NP_001993;P06734 Hs.465778 1791310;1791312;5127700 PMC102084P2;PMC102084P3;STS-M14766 BLAST-2;CD23;CD23A;CLEC4J;FCE2;IGEBF BLAST-2;C-type lectin domain family 4 member J;C-type lectin domain family 4, member J;CD23 antigen;fc fragment of ige, low affinity ii, receptor for (cd23a);fc-epsilon-RII;immunoglobulin E-binding factor;low affinity immunoglobulin epsilon Fc receptor;lymphocyte IgE receptor APPROVED protein-coding ENSG00000104921 3612 01049 151445 REVIEWED 1349361 FCGR1B Fc fragment of IgG, high affinity Ib, receptor (CD64) Three distinct, but closely related classes of receptors that bind the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene encodes the low affinity FcgammaRIB receptor that may play an important role in humoral immune response. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 1 1 p11.2 120728657 120737417 - 120926128 120935944 - 1300184 9763663 8697799;1430234;19330030;17124586;12766061;12477932;11802953;1830050;1379234;21135020;8889548;21832933;9490697 2210 Q92637 AC244453;AK307244;AK308886;AK311502;AL357493;AMYH01000981;AW134502;BC110416;BM992325;BQ030076;BU682943;CD677904;L03419;L03420;NG_030319;NM_001004340;NM_001017986;NM_001244910;NR_045213 AAA35825;AAA35826;AAI56865;CAI14143;CAI14144;CAI14145;NP_001004340;NP_001017986;NP_001231839;Q92637 Hs.534956 1742053;5024336;5124887 D1S3356;GDB:190043;RH69162 CD64;CD64b;IGFRB Fc fragment of IgG, high affinity Ib, receptor for (CD64);Fc gamma receptor I;Fc-gamma receptor I B2;OTTHUMP00000038537;OTTHUMP00000038538;fc-gamma RIB;fcRIB;hFcgammaRIB;high affinity immunoglobulin gamma Fc receptor IB;igG Fc receptor IB APPROVED protein-coding 3614 14225 601502 REVIEWED 1316933 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] 1 1 q23 159741844 159755984 + 161475205 161489360 + 1580863;2316290;4144121;4144095;5508446;5508453;5147918;5147980;5147921;5147924;5508457;5147919;5508439;5147982;5147984;5147917;5129707;5508383;5508430;5147925;5147916;5147923;5147972;5147974;5147977;5147983;5147927;5147975;5147979;5147987;5147922;5147976;5147985;5147988;5147920;5147926;5147973;5147978;5147986;6480464;6907045 1533683;15367919;16550341;18354234;17617565;20848524;10792385;19965803;19357503;16623928;20471070;19050295;9117017;8254199;20973705;17975174;12576552;19414806;19106808;21719445;19490059;17557887;16846526;12864991;9002937;15004265;11561111;20585032;19915573;14747618;7564170;17900300;20034444;18204446;17092257;12508778;21317643 22623428;22628489;16356189;16277670;16221721;16200626;16198451;16185324;16177087;16169188;16160618;16150646;16133986;16110781;16107886;16005880;15946259;15910853;15878871;15833371;15744239;15742161;15735807;15675264;15583733;15535834;15483014;15457442;15371685;15369725;15351857;15319871;15251320;15217834;15194692;15194589;15191947;15190804;15171001;15166534;15153543;15152814;15140146;14976391;14761117;14740869;11528518;11480843;11398118;11263776;11237133;11229467;11145038;11110978;11099670;10781611;10704522;10675363;10397151;10382761;10331870;9268059;8940017;8756631;8636449;8631888;8125298;3402431;2971615;2967437;2965389;2824655;2531919;2529342;2527651;2526077;1379234;9490697;11141335;14651519;14641546;14597109;14514134;12960360;12893767;12871511;12867584;12858454;12857726;12847687;12834496;12832410;12830330;12752683;12729187;12710759;12690104;12643213;12626795;12571856;12501257;12493400;12492589;12486608;12477932;12447772;12421634;12393699;12390315;12363051;12215902;12176802;12121275;12115187;12095061;12064825;12027254;11976734;11953994;11937562;14734773;11913983;11835346;11812402;11740730;11699473;17785206;18029348;2139735;19494328;19494086;19480687;19372459;19331818;19284648;19262684;19235048;19232413;19201892;19197137;19184295;19164213;19140833;19129718;19127818;19100392;19088437;19055599;19040302;19026120;19012493;18957413;18936436;18930989;18843786;18832675;18793404;18641368;18636124;18633131;18539895;18535921;18474295;18418394;18372357;18349392;18347005;18337560;18311806;18194515;18180796;18165525;18071035;18052703;18025239;18022136;17921137;17877745;17848620;17845308;17710620;17704420;17673295;17665457;17652100;17650444;17642530;17606457;17596285;17594928;17588661;17587350;17582430;17523948;17335370;17324336;17315188;17291475;17142741;17134755;17092253;17046568;17020818;17018637;17005690;16893392;16889631;16880255;16846215;16805673;16785568;16751395;16709925;16682723;16606986;16569263;16551965;16542359;16511922;16421008;22289203;20356573;19913121;20542180;20550522;20551103;20588308;20628086;20634666;20644561;20697800;20705761;20707220;20736173;23509345;19309690;19420354;19423540;19497711;19573080;19640933;19664613;19672774;19692168;19720214;19773279;19776239;19892918;19898481;19926792;19933905;20007585;20047592;20054293;20148910;20149216;20154205;20207250;20215002;20228799;20237496;20367096;20406964;20438785;20439102;20439936;20453000;20508037;20519616;9280292;9295288;20720565;21168221;20568250;20716621;20802378;20848568;20881011;20929558;20935224;21042730;21044892;21048031;21054877;21657954;21945020;21856937;21372129;21297633;21123174;22903236;22955924;23444610;21324097;23498761;22167032;21768177;21831733;21956105;22081228;22649103;22945762;22138510;22286219;21607711;21818580;22268665;22446962;22123287;22565545;22677127;22540264;23249566;23372157;21780194;22305465;17118455;22489915;22885164;23023090;23345329;23458236;23504312;23517907;23483488;23551080;23545275;23286345;23616574;22906996;23128233;22559288;23239500;21357544;21832933;22908332 2212 F5GX41;F5GXY9;F5GY95;F5H137;P12318 A21604;ABBA01047318;ABBA01047319;AF416711;AI250177;AK225438;AK225601;AK226059;AK298657;AK298734;AK315225;AL590385;AMYH01001458;BC019931;BC020823;J03619;M28697;M31932;NG_012066;NM_001136219;NM_021642;X62572;Y00644 AAA35827;AAA35932;AAA36050;AAH19931;AAH20823;AAL78867;ABM82963;ABM86154;BAG37654;BAH12840;BAH12860;CAA01563;CAA68672;NP_001129691;NP_067674;P12318 Hs.352642 2131083;2137036;2160120;2162517;5015833;5037552 AL009695;D1S3418;D8S2279;GDB:190031;RH17750;RH68292 CD32;CD32A;CDw32;FCG2;FCGR2;FCGR2A1;FcGR;IGFR2;MGC23887;MGC30032 Immunoglobulin G Fc receptor II;OTTHUMP00000032376;OTTHUMP00000032377;fc fragment of igg, low affinity iia, receptor for (cd32);fc-gamma RII-a;fc-gamma-RIIa;fcRII-a;igG Fc receptor II-a;low affinity immunoglobulin gamma Fc region receptor II-a APPROVED protein-coding ENSG00000143226 3616 00906 146790 REVIEWED 1346227 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 q23 159899564 159914575 + 161632905 161648444 + 1580863;6480464;6907045;7240526;7240710;7240530;5508403;7240529;7240525;7240540 17053192;15266033;19640933;15681388;18390752;19502269 22416796;11567028;17474147;2142460;11955599;2139735;19549396;19497711;19309690;19284648;19261857;19005878;18957413;18832691;18798552;18721908;18705654;18654664;18633424;18625651;18347005;18182380;17873550;17521421;17502666;17435165;17335370;17142741;17133600;17133580;17130130;17077019;17020818;16934243;16923849;16818279;16785568;16757681;16710414;16603696;16600368;16551965;16531013;16406061;16356189;16227149;16170323;16115811;16051361;15946259;15914856;15883031;15566359;15506939;15489334;15459183;15153543;15081531;15077320;14651519;14647193;14613290;12858454;12830330;12753656;12729187;12516568;12486608;12477932;12471137;12438452;12115230;11741917;11576217;11423173;11359830;11238632;11123333;10789675;10064577;9516136;9227318;8756631;8466861;7716523;7649565;3402431;2531080;2529342;2526077;9490697;8940017;10382761;20588308;20542180;22516957;20736173;20850384;20399509;16169070;18798798;19672774;19720214;19734236;19946017;20154205;20237496;20385827;20439936;20507212;20508037;9148918;21208440;21357255;21297633;20595464;21724994;21746897;22594540;21338356;21605112;22879986;21911970;21940940;21945020;22065769;21934067;21813128;22192444;22003931;22286219;21906057;23509345;23504312;23128233;23203925;23261299;21832933;23616574 2213 P31994;Q8NIA0 AB050934;AB051387;AB060143;AB060144;AB060145;AB060146;AB060147;AB060148;AB060149;AB060150;AB209585;ABBA01047315;AF543826;AI692546;AK308150;AL451067;AMYH01001463;AW452813;BC031992;BC141826;BC146678;BC148273;CB988406;CH471067;CR407635;DC381078;EF064736;H04104;M28696;M31933;M31934;M31935;NG_023318;NM_001002273;NM_001002274;NM_001002275;NM_001190828;NM_004001;U87560;U87561;U87562;U87563;U87564;U87565;U87566;U87567;U87568;U87569;U87570;U87571;U87572;U87573;U87574;U87575;U87576;U87577;X17653;X52473;X62573 AAA35841;AAA35842;AAA35843;AAA36051;AAD00627;AAD00628;AAD00629;AAD00630;AAD00631;AAD00632;AAD00633;AAD00634;AAD00635;AAD00636;AAD00637;AAD00638;AAD00639;AAD00640;AAD00641;AAD00642;AAD00643;AAD00644;AAH31992;AAI41827;AAI46679;AAI48274;AAQ11739;ABK41919;ABM85451;BAB92093;BAB92094;BAC54013;BAC54014;BAC54015;BAC54016;BAC54017;BAC54018;BAC54019;BAC54020;BAD92822;CAA35644;CAA36713;CAG28563;EAW90679;EAW90680;EAW90681;EAW90682;NP_001002273;NP_001002274;NP_001002275;NP_001177757;NP_003992;P31994 Hs.654395 1660025;1793726;2123326;5015833;5022061;5106821 G06355;GDB:190031;PMC26659P1;RH11110;RH66834;RH69121 CD32;CD32B;FCG2;FCGR2;IGFR2 CDw32;Fc fragment of IgG, low affinity II, receptor for (CD32);Fc fragment of IgG, low affinity IIb, receptor for (CD32);Fc gamma RIIb;OTTHUMP00000032378;OTTHUMP00000032379;OTTHUMP00000082736;fc-gamma RII-b;fc-gamma-RIIb;fcRII-b;igG Fc receptor II-b;low affinity immunoglobulin gamma Fc region receptor II-b APPROVED protein-coding ENSG00000072694 3618 06849 152700;604590;611162 REVIEWED 1607080 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 2012] 1 1 q23.3 159817762 159836656 + 161551129 161571010 + 6480464;6907045;7240710 17474147;17785206;2531080;19309690;17827395;16344560;15342556;12477932;12215903;9516136;8463268;20978933;20237496;20439936;20508037;22198951;20228799;23261299 9103 P31995;Q8TEX8 AA416937;AB062416;ABBA01005658;AF433951;AK307162;AK308168;AL451067;AMYH01001462;AMYH01001463;BC137397;BC137423;BP320976;DA851200;DA859515;NG_011982;NM_201563;NR_047648;U90938;U90939;U90940;U90941;X17652 AAC12807;AAC12808;AAC12809;AAC12810;AAI37398;AAI37424;AAN14522;ABM82270;BAB92095;CAA35642;CAA35643;NP_963857;P31995 Hs.656750 2160120;5015833 D1S3418;GDB:190031 CD32;CD32C;CDW32;FCG2;FCRIIC;IGFR2 Fc gamma receptor IIC;IgG Fc receptor II-c;OTTHUMP00000220977;fc-gamma-RIIc;immunoglobulin G Fc receptor II-c;low affinity immunoglobulin gamma Fc region receptor II-c APPROVED protein-coding 15626 13318 188030;612169 REVIEWED 1347412 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012] 1 1 q23 159859610 159867782 - 161592986 161601753 - 1580863;6480464;6907045 2526846;22290871;16467081;16356189;16344560;16171455;16160618;16155708;16133986;16110781;15974849;15946259;15934433;15910853;15889368;15833371;15783303;15713217;15526004;15500735;15457442;15369725;15245367;15194589;15152814;14761117;14740435;14651519;14634123;14597109;12898191;12867584;12864991;12858454;12839649;12834496;12830330;12753656;12710759;12501257;12486608;12477932;12447772;12445195;12421634;12393699;12176802;12121275;12115243;12076295;12064825;12027254;11897993;11835346;11740730;11699473;11528518;11379895;11099670;11034564;11021536;10917521;9743356;9028335;8940055;7836402;2967436;2139735;19502269;19342628;19317341;19218011;19201911;19100392;19026120;18843786;18559452;18452102;18408222;18372357;18156711;18052703;17847104;17710620;17596285;17584599;17529978;17523948;17335370;16899095;16889631;16805673;16598772;16550341;16542359;16482158;2525780;2521732;11359830;15688433;22512913;22770404;20356573;19913121;20628086;20707220;19309690;19320901;19497711;19640933;19720214;19741716;19892918;19946017;19946035;20041976;20133350;20149216;20300756;20367096;20379614;20439936;20442749;20472591;20508037;20536598;20720565;20364047;20664961;20924590;20957197;20980704;21109729;21227406;21123174;22309893;22999728;21895673;22167032;22565545;21296850;21937707;21818580;22551723;22837109;22942264;23049979;23128233;23261299;21832933 2215 E9PNY5;H0Y4U3;M9MML6;O75015 AB025256;ABBA01005654;ABBA01005655;AJ581669;AK313219;AK316565;AL451067;AMYH01001463;BC128562;DA669913;DA670720;DA671001;DA672751;DA672763;DA673839;DC428645;DC428702;J04162;M24854;NG_032926;NM_000570;NM_001244753;NM_001271035;NM_001271036;NM_001271037;X07934;X16863;Z46223 AAA35881;AAA53507;AAI28563;BAA83803;BAG38154;CAA30758;CAA34753;CAA86296;CAE46408;NP_000561;NP_001231682;NP_001257964;NP_001257965;NP_001257966;O75015 Hs.372679;Hs.694258;Hs.736230 1742051;1793204;1793728;2121945;2178714 GDB:190042;PMC20248P1;PMC26659P2;RH11453;SHGC-35267 CD16;CD16b;FCG3;FCGR3;FCR-10;FCRIII;FCRIIIb Fc fragment of IgG, low affinity IIIb, receptor for (CD16);Fc-gamma receptor IIIb (CD 16);OTTHUMP00000082739;OTTHUMP00000082740;OTTHUMP00000229102;fc-gamma RIII;fc-gamma RIII-beta;fc-gamma RIIIb;fcR-10;fcRIII;fcRIIIb;igG Fc receptor III-1;low affinity immunoglobulin gamma Fc region receptor III-B APPROVED protein-coding ENSG00000162747 3620 09951 610665 REVIEWED 1317013 FCHO1 FCH domain only 1 19 19 19 p13.11 17760312 17801121 + 17723336 17760366 + 17858527 17899377 + 737633;6480464 12477932 17617719;16344560;15761153;15489334;9179496;16169070;21145461;19713939;20448150;21832049;22484487 23149 B7ZAZ3;M0QXD1;M0QXW2;M0QXY1;M0QY09;M0QYA9;M0QYN8;M0QYT8;M0QZE1;M0QZF0;M0QZI3;M0QZI9;M0QZS1;M0R0U5;M0R107;M0R1K4;M0R2J7;M0R3E5;M0R3E7;O14526 AB006628;ABBA01051229;ABBA01051230;ABBA01051231;AC008761;AK291410;AK303623;AK309403;AK316458;AMYH01009576;BC028021;BC041130;BI756664;BQ433639;CH471106;DB158605;NM_001161357;NM_001161358;NM_001161359;NM_015122 AAH28021;AAH41130;BAA22959;BAF84099;BAG64632;BAH14829;EAW84628;EAW84629;EAW84630;NP_001154829;NP_001154830;NP_001154831;NP_055937;O14526 Hs.96485 2112376 D7S3016E KIAA0290 FCH domain only protein 1 protein-coding ENSG00000130475 29002 16887 613437 VALIDATED 736450 FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q23 159778173 159786442 - 161511549 161520413 - 1598927;1598928;1580863;5508400;5508402;5508439;5508444;5508430;5508443;5508388;5508391;5508403;5508432;5508449;5508463;5508217;5508389;5508390;5508428;5508464;5508467;5508375;5508377;5508383;5147974;6480464;6907045 2478590;8874200;19946017;16520389;19050295;18625651;19414806;19005160;8453794;19019892;19640933;19026120;18199088;16221721;21947961;21370226;21187939;19493236;15910853;15334114;18155780;20589683;12576552;16846526 2138330;11955599;19342628;19221562;19180470;19164213;19140833;19100392;19018870;18979096;18930989;18843786;18804983;18768879;18768831;18715866;18664531;18636124;18565259;18556407;18475309;18452102;18372357;18349392;18347005;18174382;18052703;18050249;17922423;17899539;17878347;17710620;17704420;17652100;17650444;17606457;17600378;17596285;17594928;17523948;17475906;17475889;17457599;17335370;17324336;17265480;17202140;17108815;16981896;16934243;16716162;16709862;16682723;16609067;16550341;16542359;16356189;16344560;16330541;16310791;16277670;16181633;16160618;16142749;16133986;16110781;15998631;15946259;15833371;15767342;15659493;15535834;15526004;15483014;15457442;15299021;15269840;15217834;15194589;15191947;15188374;15153543;15152814;15037082;14987319;14740435;14651519;14597109;14526422;14563637;12864991;12858454;12847896;12834496;12830330;12756162;12734884;12710759;12649399;12631364;12626795;12618859;12501257;12492589;12486608;12477932;12447772;12445195;12393699;12379528;12176802;12121275;12064825;12036208;12027254;11986321;11895784;11884455;11850593;11835346;11808760;11806974;11756173;11740730;11722422;11699473;11696221;11528518;11359830;11263776;11229467;11145038;11037893;11034564;11022771;9743356;9378963;8503991;8940055;8609432;8405050;8258691;8157290;8125298;7836402;7819147;7700021;7543538;7516890;2967436;2526846;2525780;2521732;2146219;2139735;11027634;10961879;9276722;9242542;22290871;19913121;20542180;20550522;20551103;20628086;20644561;20664961;20697800;20705761;20707220;20723308;17207965;15144186;15778339;19283441;19309690;19320901;19333136;19700393;19758217;19843059;19892918;19933905;20018222;20047592;20059375;20137370;20138184;20149216;20185670;20207982;20333387;20379614;20400988;20418097;20439102;20439936;20508037;8945479;20560817;18787406;20730791;20553754;20102624;20636398;20848524;20935224;20980704;21036743;21042730;19672774;20423913;20884651;21091537;21208440;21303362;21361908;21091999;21094802;21191073;21339041;21270398;23045477;23075294;23460612;23487023;21541219;21561106;21768335;22914441;22915639;22167032;22366371;22271896;21830210;23680410;22955924;23006327;21129274;21924179;21760529;10706735;21657954;22059994;21900198;22123287;23046723;21883784;23316106;22180442;21667346;21999172;22366323;22613847;22565545;21832049;22885164;23024279;23249566;22961048;23509345;23179144;23171437;23294992;23128233;21988832;23023090;23114687;23334594;21832933;22438420;22496218;22634259;22906996;21785957 2214 C9JC71;E9PG94;H0Y755;M9MML0;P08637 AB032414;ABBA01013566;ABBA01047315;ABBA01047316;ABBA01047317;AF162790;AK223268;AK223295;AK302126;AL590385;AMYH01001458;BC017865;BC033678;BC036723;BI768140;DA674960;DA933259;DA944383;DA957430;HC728087;M24853;NG_009066;NM_000569;NM_001127592;NM_001127593;NM_001127595;NM_001127596;S62490;S76824;X52645;XM_003960897;Z46222 AAA53506;AAB33925;AAD48438;AAH17865;AAH33678;AAH36723;ADQ31624;BAA86888;BAD96988;BAD97015;BAG63503;CAA36870;CAA86295;CBL93996;NP_000560;NP_001121064;NP_001121065;NP_001121067;NP_001121068;P08637;XP_003960946 Hs.372679 1648258;1680515;1742051;1793204;1793728;2178714 GDB:190042;PMC20248P1;PMC26659P2;RH11453;RH79714;WI-16134 CD16;CD16A;FCG3;FCGR3;FCGRIII;FCR-10;FCRIII;FCRIIIA;IGFR3 CD16a antigen;Fc fragment of IgG, low affinity III, receptor for (CD16);Fc gamma receptor III-A;Fc-gamma RIII-alpha;Fc-gamma RIIIa;Fc-gamma receptor III-2 (CD 16);Fc-gamma receptor IIIb (CD16);FcgammaRIIIA;OTTHUMP00000032374;OTTHUMP00000040694;OTTHUMP00000196093;OTTHUMP00000196094;fc receptor, igg, low affinity iii;fc-gamma RIII;igG Fc receptor III-2;immunoglobulin G Fc receptor III;low affinity immunoglobulin gamma Fc region receptor III-A;neutrophil-specific antigen NA APPROVED protein-coding ENSG00000203747 3619 00903 146740 REVIEWED 736100 FCGRT Fc fragment of IgG, receptor, transporter, alpha This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 19 19 q13.3 54708304 54721402 + 50015536 50029685 + 704404;1580863;6480464 19451275;17384151;7964511;19462839;18843053;18684948;18637944;18599440;18566411;18003977;19275696;19164298;17709515;17703228;17674040;17048273;17046328;16849638;16805790;16549777;16303743;16229888;15689494;15654966;15644205;15489334;15340161;15258288;14767057;14764666;14630397;12972260;12885906;12566415;12538789;12477932;12144784;12023961;12006623;11717196;11207281;10998088;10933786;9493268;9439449;8871627;8646894;8145026;20592032;20627700;19362735;19423540;19772792;20006594;20018855;20083659;20406964;20438785;20452034;21256596;20930418;21368166;21690327;22215085;22570488;20639872;23022100;23384837;23286945;23220220 2217 M0QYM4;M0QYN1;M0QYN9;M0R0A9;M0R0H0;M0R0K7;M0R220;M0R266;M0R2T3;P55899 ABBA01032921;ABBA01032922;AC010619;AF200220;AF220542;AF453513;AF453514;AF453515;AF453516;AF453517;AK074734;AK075510;AK075532;AK299124;AMYH01009912;AMYH01009913;BC008734;BC020421;BC091487;BE245284;BI520292;BT006828;BX647163;CH471177;DC312637;EF064735;NM_001136019;NM_004107;U12255 AAA58958;AAF72596;AAG31421;AAH08734;AAM27922;AAM27923;AAM27924;AAM27925;AAM27926;AAP35474;ABK41918;ABM84470;ABM84734;BAG52159;BAG52164;BAH12955;CAI46032;EAW52498;EAW52499;EAW52500;NP_001129491;NP_004098;P55899 Hs.111903 1700198;1854613;2110403 FCGRT_2894;RH103715;SHGC-12954 FCRN;alpha-chain FcRn alpha chain;IgG Fc fragment receptor transporter alpha chain;IgG receptor FcRn large subunit p51;fc receptor, igg, alpha chain transporter;immunoglobulin receptor, intestinal, heavy chain;major histocompatibility complex class I-like Fc receptor;neonatal Fc receptor;neonatal Fc-receptor for Ig APPROVED protein-coding ENSG00000104870 3621 03257 601437 REVIEWED 1343825 FCP1 F-cell production 1 7240710 2461753 2221 3627 604168 1348405 FCHO2 FCH domain only 2 5 5 5 q13.2 68147183 68281688 + 72287655 72422105 + 72251808 72386349 + 737633;6480464 12477932 22484487;19380743;22323290;17540576;16964243;16381901;15489336;15489334;15372022;15254787;14702039;11230166;11076863;21890473;21762413 115548 H0YAE2;H7BXJ4;J3KNW0;Q0JRZ9 ABBA01061912;ABBA01061913;ABBA01061914;AC008972;AC020893;AC020942;AK291782;AK293796;AK295141;AL831971;AL832928;AL833313;AMYH01015403;AMYH01015404;BC006004;BC014311;BC137070;CH471084;NM_001146032;NM_138782 AAH06004;AAH14311;AAI37071;BAF84471;BAG57208;BAG58162;CAL38169;CAL38715;EAW95716;NP_001139504;NP_620137;Q0JRZ9 Hs.741336 1668506;2149980;2156107;2172429;2172431 A005N16;G20348;RH36369;RH65891;STS-AA027349 FCH domain only protein 2;OTTHUMP00000221971;OTTHUMP00000222418 protein-coding ENSG00000157107 25180 13319 613438 VALIDATED 1350900 FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 q34.3 136912479 136919187 + 137772658 137779366 + 1580863;6480464 8576206;12421953;19434912;19220833;19109177;18950864;18486240;18032536;17680820;17386030;17382393;17215869;16839748;16820685;16076493;15331601;14707097;14702039;14660572;12477932;11446374;10232391;9777405;9202708;8884275;7498469;22082351;22457818;20593422;20682603;19632990;19664148;19728924;19767106;20237496;20937340;21334396;21327568;22173059;22594803;22140517;22670778;22693230;22350641;23423485;22892990;23298162 2220 Q15485;Q3B834 ABBA01030015;ABBA01030016;AI052239;AK096112;AK290843;AK308476;AL603650;AMYH01021828;BC069572;BC069825;BC113935;CH471090;D49353;D63160;DQ217935;JB054537;NG_011649;NM_004108;NM_015837 AAH69572;AAH69825;AAI13936;ABB01005;BAA08352;BAA09636;BAF83532;CCV66758;EAW88133;EAW88134;EAW88135;EAW88136;NP_004099;NP_056652;Q15485 Hs.54517 1653701;1675102 RH71323;STS-H62842 EBP-37;FCNL;P35;ficolin-2 37 kDa elastin-binding protein;L-ficolin;OTTHUMP00000022518;collagen/fibrinogen domain-containing protein 2;ficolin B;ficolin-2;ficolin-B;ficolin-beta;serum lectin p35 APPROVED protein-coding ENSG00000160339 3624 03376 601624 REVIEWED 1351597 FCN1 ficolin (collagen/fibrinogen domain containing) 1 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008] 9 9 q34 136941253 136949630 - 137801431 137809806 - 1580863;6480464 8576206;18029348;18343499;18032536;17938215;17928056;17148457;16305643;15489334;15340161;15117939;12624729;12477932;10679061;9777405;9202708;8947836;8884275;8573080;7686157;21112665;21037097;20400674;20375634;19539995;19741154;19853918;20032467;20237496;21490156;21689722;21974696;22236007;23209787;22391637;23184524;22941510;22673311 2219 O00602;Q92531 ABBA01030016;AK314867;AL353611;AMYH01021828;BC020635;BG482630;CH471090;CR749452;D63394;D83920;HH958039;NM_002003 AAH20635;ABM82352;ABM85362;BAA09707;BAA12120;BAG37382;CAH18289;CBX51283;EAW88137;EAW88138;EAW88139;EAW88140;NP_001994;O00602 Hs.440898 1852434;2127644;2191457 MARC_23630-23631:1027528738:1;RH70225;STS-AA037000 FCNM M-ficolin;OTTHUMP00000022519;collagen/fibrinogen domain-containing protein 1;ficolin (collagen/fibrinogen domain-containing) 1;ficolin-1;ficolin-A;ficolin-alpha APPROVED protein-coding ENSG00000085265 3623 03153 601252 REVIEWED 1312475 FCHSD2 FCH and double SH3 domains 2 11 11 11 q13.4 69852315 70157746 - 72225439 72530739 - 72547790 72853143 - 6480464 14627983;16554811;16189514;15489334;15067381;14980202;12477932;9872452;9873;15101818;18654987;20379614;22558309;19322201;12586822;21988832;23266558;22797925;22902056 9873 B8ZZW8;C9JM66;E7ENZ2;E9PG19;H0Y6M2;H0YG35;O94868 AB018312;ABBA01017525;ABBA01017526;ABBA01017527;ABBA01017528;ABBA01017529;ABBA01017530;ABBA01017531;AK128381;AK296376;AK297928;AL080236;AL133567;AMYH01003797;AMYH01003798;AP002381;AP002455;AP004241;BC010394;BC017751;BQ007622;CD358961;CH471076;NM_014824 AAH10394;AAH17751;ADZ15388;BAA34489;BAG59050;BAG60245;CAB63720;EAW74880;EAW74881;NP_055639;O94868 Hs.744959 1338156;1646549;1653629;1659428;1674585;1771375;1773733;1782274;2111031;2123115;2124030;2125759;2177245 A004W08;D11S1273E;D11S1369;D11S4184;G09449;RH12388;RH46086;RH47602;RH66566;SGC35189;SGC38375;SHGC-112106;WI-14005 KIAA0769;NWK;SH3MD3 FCH and double SH3 domains protein 2;OTTHUMP00000203055;OTTHUMP00000203071;OTTHUMP00000203072;OTTHUMP00000203073;OTTHUMP00000237490;SH3 multiple domains 3;SH3 multiple domains protein 3;carom;nervous wreck homolog protein-coding ENSG00000137478 29114 13321 VALIDATED 1323109 FCRL2 Fc receptor-like 2 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009] 1 1 1 q21 130786697 130818104 - 155982150 156013533 - 157715523 157746922 - 6480464 11162587;18802695;18704934;18314442;17273841;16710414;15489334;15340161;12975309;12477932;12037601;11929751;11493702;19682311;20237496;21068405 79368 B4DVJ9;B4E0W2;Q96LA5 ABBA01016636;AF319438;AF319439;AF319440;AF390037;AF459633;AK301113;AK303549;AL356276;AL833194;AMYH01001443;AY043465;AY358130;BC069185;BC129836;CH471121;EF064733;NM_030764 AAH69185;AAI29837;AAK01402;AAK01403;AAK01404;AAK91778;AAL60249;AAM12152;AAQ88497;ABK41916;BAG62711;BAG64574;EAW52864;EAW52865;EAW52866;EAW52867;EAW52868;EAW52869;NP_110391;Q96LA5 Hs.437393 2142069;2146213;5015619;5022200;5037552 AL009290;D11S3114;D8S2279;L18426;SHGC-63629 CD307b;FCRH2;IFGP4;IRTA4;SPAP1;SPAP1A;SPAP1B;SPAP1C Fc receptor-like protein 2;IFGP family protein 4;OTTHUMP00000020928;OTTHUMP00000020931;SH2 domain-containing phosphatase anchor protein 1;fc receptor homolog 2;fcR-like protein 2;immune receptor translocation-associated protein 4;immunoglobulin receptor translocation-associated protein 4;immunoglobulin superfamily Fc receptor, gp42 APPROVED protein-coding ENSG00000132704 14875 07351 606509 REVIEWED 1348305 FCN3 ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008] 1 1 p36.11 27568188 27573902 - 27695601 27701315 - 1580863;7240710;6480464 9694814;11907111;14718574;19220833;19208603;19109177;18261799;18032536;18006063;17469142;17303612;17215869;16641997;16335952;16303743;15489334;15340161;14702039;12975309;12624729;12477932;12367778;10330454;2276712;1859827;22851708;20237496;19939495;21085669;22226667;22082351;21851923;22238349;22670778;23416240;23107985;23142462;22471352 8547 O75636;Q5SSB9;Q6UXM4 ABBA01034970;AK075140;AK309540;AL663123;AMYH01000422;AY358081;AY358283;AY756173;BC020731;CH471059;CQ783202;CR456808;FO393419;NG_016279;NM_003665;NM_173452 AAH20731;AAQ88448;AAQ88650;AAU85296;ABM82954;ABM86146;BAC11429;CAF86408;CAG33089;EAX07756;EAX07757;NP_003656;NP_775628;O75636 Hs.333383 2136968;2143126 D1S3293;SHGC-74468 FCNH;HAKA1;MGC22543 H-ficolin;OTTHUMP00000006338;OTTHUMP00000006339;collagen/fibrinogen domain-containing lectin 3 p35;collagen/fibrinogen domain-containing protein 3;ficolin 3;ficolin-3 APPROVED protein-coding ENSG00000142748 3625 05399 604973;613860 REVIEWED 1317900 FCHSD1 FCH and double SH3 domains 1 5 5 5 q31.3 137095597 137107714 - 140999053 141011170 - 141018869 141030986 - 6480464 15815621;15489334;15067381;14980202;14702039;12975309;12477932;11214971;19913121;20628086;19041431;20379614;22558309 89848 E5RGB1;E5RGT6;E5RK49;Q86WN1 ABBA01026405;AC008781;AC022420;AF086518;AK000007;AK027281;AK126203;AMYH01015661;AY217346;AY358478;BC047016;CH471062;NM_033449 AAH47016;AAO45099;AAQ88842;BAA92232;EAW61908;EAW61909;EAW61910;NP_258260;Q86WN1 Hs.591257 1785646;2136778;2151791 D5S1541;SHGC-171529;SHGC-58411 FLJ00007;NWK2 FCH and double SH3 domains protein 1;OTTHUMP00000224783;OTTHUMP00000224785;nervous wreck homolog 2 protein-coding ENSG00000197948 25463 13320 VALIDATED 1602077 FCRL1 Fc receptor-like 1 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 1 1 1 q21-q22 130835377 130861125 - 156031275 156056515 - 157764193 157789940 - 6480464 18802695;18704934;17895404;17273841;16849395;16344560;15479727;14702039;12477932;12037601;11929751;11493702;22888639;20237496;20379614;17207965 115350 Q96LA6 ABBA01016636;AF329488;AF459634;AK096690;AK315748;AL139409;AL356276;AL833674;AL833970;AMYH01001443;AY043464;BC021274;BC033690;CH471121;DA939902;EF064734;NM_001159397;NM_001159398;NM_052938 AAH33690;AAK91777;AAL23898;AAL60250;ABK41917;ADQ31817;BAC04842;BAG38102;CAD38815;EAW52860;EAW52861;EAW52862;EAW52863;NP_001152869;NP_001152870;NP_443170;Q96LA6 Hs.656112 1336192;1688935;1698096;2157203 D1S1600;RH102580;RH68097;RH93564 CD307a;DKFZp667O1421;FCRH1;IFGP1;IRTA5 Fc receptor-like protein 1;IFGP family protein 1;OTTHUMP00000020924;OTTHUMP00000020925;OTTHUMP00000020926;fc receptor homolog 1;fcR-like protein 1;hIFGP1;immune receptor translocation-associated protein 5;immunoglobulin superfamily Fc receptor, gp42 APPROVED protein-coding ENSG00000163534 18509 07350 606508 REVIEWED 1606397 FCRL6 Fc receptor-like 6 1 1 1 q23.2 132840594 132854468 + 158038797 158052671 + 159772173 159786047 + 18991291;17273841;17213291;16710414;16344560;14702039;20519654;22939635 343413 F5GYB3;Q6DN72 ABBA01016618;AI631310;AK131201;AL590560;AMYH01001448;AY212514;AY513661;AY654627;AY654628;DA959587;NM_001004310 AAP47270;AAS82876;AAT66024;AAT66025;BAD18394;CAH71102;CAM14070;CAM14071;CAM14072;NP_001004310;Q6DN72 Hs.196955 1766341 SHGC-149682 FLJ16056;FcRH6 Fc receptor-like protein 6;Fc receptor-like protein 7;IFGP6;IgSF type I transmembrane receptor;OTTHUMP00000033326;OTTHUMP00000178959;OTTHUMP00000178960;OTTHUMP00000178961;fc receptor homolog 6;fcR-like protein 6;leukocyte receptor protein-coding ENSG00000181036 31910 14177 613562 VALIDATED 1604549 FCRL3 Fc receptor-like 3 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. [provided by RefSeq, Jul 2008] 1 1 q21-q22 155914602 155937271 - 157647978 157670647 - 6480464 19235910;19158815;19050767;18704934;18556175;18313765;18087673;18065500;17961971;17868046;17763442;17617473;17389014;17273841;17200162;17179172;17154080;17133581;17133579;17117947;17020818;16911635;16859508;16519819;16476711;16384851;16176992;15838509;14702039;12477932;12051764;12014205;11929751;11493702;21833088;20732364;19438904;19452015;19494275;19565352;19605748;19657722;19690864;19843936;19877046;19953494;20190142;20237496;21078711;21299530;22386693;23070121;21529967;21663782;22706687;21829393;21841780;22341374;21885492;22458979;22392608 115352 Q96P28;R4GNJ6 ABBA01016637;AF416901;AF416902;AF416903;AF416904;AF416905;AF459027;AK098122;AK125622;AK301257;AL356276;AL833391;AMYH01001443;AY043466;BC013698;BC028933;BX496349;CD690165;CH471121;NG_023241;NM_052939 AAH28933;AAK91779;AAL13290;AAL13291;AAL13292;AAL13293;AAL13294;AAL59390;ABM83385;ABM86598;BAG53580;BAH13442;EAW52870;EAW52871;EAW52872;EAW52873;EAW52874;EAW52875;EAW52876;EAW52877;EAW52878;EAW52879;EAW52880;EAW52881;NP_443171;Q96P31 Hs.292449 1774697;2116832 AL009767;D1S3139 CD307c;FCRH3;IFGP3;IRTA3;SPAP2 Fc receptor homolog 3;Fc receptor-like protein 3;IFGP family protein 3;OTTHUMP00000020932;OTTHUMP00000020933;OTTHUMP00000020934;OTTHUMP00000020935;OTTHUMP00000020936;OTTHUMP00000020937;SH2 domain-containing phosphatase anchor protein 2;fcR-like protein 3;hIFGP3;immune receptor translocation-associated protein 3;immunoglobulin superfamily receptor translocation associated protein 3 APPROVED protein-coding 18506 07352 606510 REVIEWED 1603196 FCRL4 Fc receptor-like 4 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009] 1 1 q21 155810163 155834494 - 157543539 157567870 - 6480464 22777505;18802695;18704934;17273841;16849395;16157685;16079106;14597715;12881317;12619161;12477932;12037601;11929751;11493702;11290337;19592645;20237496;20379614;21908428;22491254;22716304 83417 Q96PJ5 ABBA01016637;AF329490;AF329492;AF343659;AF343660;AF343661;AF397452;AL135929;AMYH01001443;BC125173;BC125174;BC143628;CH471121;EF064731;NM_031282 AAI25174;AAI25175;AAK31322;AAK31323;AAK31324;AAK93970;AAL23900;AAL23902;ABK41914;EAW52882;EAW52883;NP_112572;Q96PJ5 Hs.120260 2114990;2166087 AL009663;D1S2118 CD307d;FCRH4;IGFP2;IRTA1;MGC150522;MGC150523 Fc receptor-like protein 4;IFGP family protein 2;OTTHUMP00000033529;fc receptor homolog 4;fcR-like protein 4;hIFGP2;immune receptor translocation-associated protein 1;immunoglobulin superfamily Fc receptor, gp42;immunoglobulin superfamily receptor translocation associated 1 APPROVED protein-coding ENSG00000163518 18507 16168 605876 REVIEWED 1606652 FDPSP1 farnesyl diphosphate synthase pseudogene 1 1 1 1 q31 160640936 160642062 + 185786764 185799985 + 187532189 187533307 + 2613235 343332 ABBA01027697;AL357559;AMYH01001568;NG_005667 CHR39A;FDPSL1;FPSL1 APPROVED pseudo 3632 INFERRED 4145239 FDPSP10 farnesyl diphosphate synthase pseudogene 10 15 15 q15.2 20203115 20204271 - 43432291 43433447 - 100190987 ABBA01038353;AC068724;AMYH01006587;NG_008745 pseudo 39087 INFERRED 1602263 FDPSP2 farnesyl diphosphate synthase pseudogene 2 7 7 q11.23 76435305 76436596 + 76597453 76598627 + 6480464 9847074;2613235 392063 AC114737;AMYH01017615;NG_005796 5014051;5015619;5016478;5021872;5022450;5022463;5037552 D10S275;D11S3114;D3S1673;D8S2278;D8S2279;GDB:434012;sY3084 FDPSL2;FDPSL2A;FPSL2 APPROVED pseudo 3633 INFERRED 1350506 FDPSP3 farnesyl diphosphate synthase pseudogene 3 14 14 14 q22.2 35401016 35402453 - 54421224 54422455 - 55351525 55352962 - 2613235 2227 ABBA01018198;AL160471;AMYH01005744;NG_005795;NG_008647 2120102 G35399 FDPSL3;FPSL3 APPROVED pseudo 3634 INFERRED 1347692 FDPSP4 farnesyl diphosphate synthase pseudogene 4 15 15 15 q15.2 20002272 20003381 - 41001061 41023006 - 43231451 43232560 - 2613235 2228 ABBA01038357;AC090514;AMYH01006586;NG_007445 1677242;1736726;1736748;2126032 A008V23;D15S748;D15S760;RH93131 CHR39B;FDPSL4;FPSL4 APPROVED pseudo 3635 INFERRED 1345163 FDPSP5 farnesyl diphosphate synthase pseudogene 5 X X X p11.3 48472305 48473786 - 44220217 44222448 - 44335217 44336698 - 2613235 2229 ABBA01046366;AL022163;AMYH01022240;NG_007446 CHR39C;FDPSL5;FPSL5 APPROVED pseudo 3636 INFERRED 1606497 FCRL5 Fc receptor-like 5 This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010] 1 1 q21 155749791 155788934 - 157483167 157522310 - 6480464 18802695;18704934;17273841;16710414;16681430;16439682;15671532;15489334;12975309;12477932;11929751;11493702;11453668;11290337;11027651;20590663;20626413;19775371;20237496;22028333;22044751;22491254;23616577 83416 A6NJE8;F5GXJ2;Q96RD9 ABBA01016637;AF343662;AF343663;AF343664;AF343665;AF369794;AF397453;AK090423;AK090475;AK300010;AK301356;AL135929;AL353899;AL832301;AL834187;AMYH01001443;AY358085;BC101066;BC101067;BC101068;BC101069;BE676280;CH471121;EF064730;NG_027723;NM_001195388;NM_031281 AAI01067;AAI01068;AAI01070;AAK31325;AAK31326;AAK31327;AAK31328;AAK50059;AAK93971;AAQ88452;ABK41913;BAC03404;BAC03456;BAG62901;BAH13192;CAH56486;EAW52884;EAW52885;EAW52886;NP_001182317;NP_112571;Q96RD9 Hs.415950 1796132;5024547 D1S3698;IRTA2_1414 BXMAS1;CD307;CD307e;DKFZp667E2019;DKFZp667F216;FCRH5;FLJ00333;FLJ00397;IRTA2;MGC119590;MGC119592;MGC119593;PRO820;RP11-217A12.1 Fc receptor-like protein 5;OTTHUMP00000018869;fc receptor homolog 5;fcR-like protein 5;immune receptor translocation-associated protein 2;immunoglobulin receptor translocation-associated protein 2;immunoglobulin superfamily receptor translocation associated 2 (IRTA2) APPROVED protein-coding ENSG00000143297 18508 16169 605877 REVIEWED 2303432 FDPSP7 farnesyl diphosphate synthase pseudogene 7 7 7 q11.23 76435514 76436410 - 76597453 76598627 - 441261 AC114737;AMYH01017615;NG_009609 FDPSL2B APPROVED pseudo 33487 INFERRED 1353374 FDPSP6 farnesyl diphosphate synthase pseudogene 6 21 21 21 q21.1 6931600 6932360 + 20682364 20683124 + 21760493 21761253 + 10830953 54051 ABBA01057153;AMYH01012158;AP001254;AP001678;NG_000923 FDPSP APPROVED pseudo 3637 INFERRED 1605583 FCRLB Fc receptor-like B FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 134795903 134801378 + 159959081 159964557 + 161692457 161697933 + 6480464 17975119;17273841;16263223;15815692;15676285;14702039;12477932;19023099;22505724 127943 Q8IXZ7;Q96DP6 ABBA01047315;AK055614;AK290733;AL359541;AMYH01001463;AY670683;AY670684;AY670685;AY670686;AY670687;AY786314;BC038564;BC067080;CH471067;DQ021957;EF064728;NM_001002901 AAH38564;AAT77987;AAT77988;AAT77989;AAT77990;AAT77991;AAX11390;AAY42534;ABK41911;BAB70971;BAF83422;EAW90690;EAW90691;NP_001002901;Q6BAA4 Hs.517422 1340306 D6S419 FCRL2;FCRLM2;FCRLY;FLJ31052;FREB-2;FcRY;RP11-474I16.6 Fc receptor homolog expressed in B-cells protein 2;Fc receptor like 2;Fc receptor-like B;Fc receptor-like and mucin-like 2;OTTHUMP00000158810;OTTHUMP00000158811;OTTHUMP00000158812;OTTHUMP00000158813;OTTHUMP00000158814;fc receptor homolog expressed in B cells protein 2;fc receptor-like and mucin-like protein 2;fc receptor-like protein 2;fc receptor-related protein Y APPROVED protein-coding ENSG00000162746 26431 08093 609251 VALIDATED 4144923 FDPSP9 farnesyl diphosphate synthase pseudogene 9 15 15 15 q25.1 57173150 57174290 + 78013351 78024977 + 80236834 80237974 + 401822 ABBA01060616;AC015871;AMYH01006846;NG_008747 pseudo 39086 INFERRED 4144937 FDPSP8 farnesyl diphosphate synthase pseudogene 8 1 1 1 q32.3 185060551 185061700 - 209900154 209903026 - 211833475 211834624 - 401981 ABBA01048189;AL356310;AMYH01001701;NG_008746;NG_029112 1664142;1676604;2141534;2219986 NEK2__6227;RH68293;RH92597;SHGC-76300 pseudo 39085 INFERRED 1348201 FDX1P1 ferredoxin 1 pseudogene 1 20 20 20 q11.22 29813090 29813765 - 32527283 32527958 - 33061116 33064295 - 2340092;2969697 2231 ABBA01019192;AL109923;AMYH01011862;AMYH01011863;M34787;NG_001117;NG_023206 1690268 RH67935 ADXP1;FDXP1 APPROVED pseudo 3640 INFERRED 1344913 FDX1P2 ferredoxin 1 pseudogene 2 21 21 21 q21.3 12247898 12248872 + 25986354 25987328 + 27064483 27065457 + 10830953;2340092 2216 ABBA01057211;AMYH01012174;AP000225;M34789;NG_001116 1742123;1784466 GDB:191984;SHGC-170146 FDXP2 APPROVED pseudo 3641 INFERRED 1353265 FDCSP follicular dendritic cell secreted protein This gene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011] 4 4 4 q13 68449575 68458729 + 71126404 71135558 + 71091788 71100969 + 15489334;17548624;16259954;12975309;12477932;12193705;17207965;20811673 260436 Q540F3;Q8NFU4 ABBA01022925;AC105347;AF086120;AF435080;AMYH01014273;AY190326;AY358958;BC062213;CH471057;CS488923;NM_152997 AAH62213;AAN01116;AAO41714;AAQ89317;ADQ32002;CAM55997;EAX05613;NP_694542;Q8NFU4 Hs.733448 C4orf7;FDC-SP;MGC71894 FDC secreted protein;OTTHUMP00000159759;follicular dendritic cell secreted peptide APPROVED protein-coding ENSG00000181617 19215 06255 607241 REVIEWED 1352788 FDX2 ferredoxin 2 2340092 2143 3639 1606206 FCRLA Fc receptor-like A This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 q23.3 159943386 159950766 + 161676762 161684142 + 6480464 17273841;16710414;15551350;15489334;15340161;12975309;12966588;12477932;12202404;11891275;11754007;20668221;15815692;20237496;21149418;23128233 84824 A6NC03;A6NL20;F5H720;F6RF20;F8W743;G3V1J2;Q5VXA5;Q5VXB1;Q6MZF2;Q8WXH3 ABBA01047315;AF329489;AF329491;AF329493;AF329494;AF329495;AF390036;AF426461;AF531423;AL359541;AMYH01001463;AY091642;AY358348;BC006521;BM471887;BX112608;BX649184;CH471067;EF064729;NM_001184866;NM_001184867;NM_001184870;NM_001184871;NM_001184872;NM_001184873;NM_032738 AAH06521;AAL23899;AAL23901;AAL23903;AAL23904;AAL23905;AAL27307;AAL58111;AAM13980;AAM97591;AAQ88714;ABK41912;ABM84200;ABM87604;CAE46202;EAW90683;EAW90684;EAW90685;EAW90686;EAW90687;EAW90688;EAW90689;NP_001171795;NP_001171796;NP_001171799;NP_001171800;NP_001171801;NP_001171802;NP_116127;Q7L513 Hs.266331 1854439 RH69235 FCRL;FCRL1;FCRLM1;FCRLX;FCRLb;FCRLc1;FCRLc2;FCRLd;FCRLe;FCRX;FREB;MGC4595;RP11-474I16.5 Fc receptor homolog expressed in B cells (FREB);Fc receptor related protein X;Fc receptor-like A;Fc receptor-like and mucin-like 1;OTTHUMP00000032485;OTTHUMP00000032486;OTTHUMP00000032487;OTTHUMP00000032488;OTTHUMP00000032489;OTTHUMP00000032490;OTTHUMP00000032491;fc receptor homolog expressed in B-cells;fc receptor-like and mucin-like protein 1;fc receptor-like protein;fc receptor-related protein X APPROVED protein-coding ENSG00000132185 18504 606891 REVIEWED 1342731 FEB1 febrile convulsions 1 7240710 8730286 2233 1335415;1337622 D8S279;D8S553 3643 1353249 FEB2 febrile convulsions 2 7240710 9384604 2234 1340604 D19S177 3644 1350811 FEB3 febrile convulsions 3 10514109 27066 3645 1347424 FEB4 febrile convulsions 4 7240710 10587582 3646 604352;605472 731891 FDFT1 farnesyl-diphosphate farnesyltransferase 1 This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008] 8 8 p23.1-p22 11697599 11734227 + 11660190 11696818 + 1580863;1300048;1626611;2316857;6480464 16440058;16876788 10896663;17353931;8474436;19470168;19245693;19054015;18676367;18660489;18636124;18350552;17805225;17483544;16684881;15489334;14702039;12477932;8294001;8020937;7864626;7665618;7685352;16169070;19913121;20554694;20628086;18029348;20031551;20180986;20403997;20708005;21439984;21945151;21139048;21890473;21906983;21987572;19738201;21963094;22546838;23000965;23246001;23455922;23752268;22053931;22505724;22797925 2222 B3KQ95;B4DJE5;B4DT56;B7Z1J3;E9PJG4;E9PNJ2;E9PNM1;E9PQ90;E9PS69;E9PSH1;P37268;Q6IAX1 ABBA01026877;AC069185;AF051647;AF051660;AI679762;AK057726;AK098682;AK293545;AK296043;AK297868;AK300059;AK300245;AK301617;AK311246;AK311362;AK315993;AK316033;AK316182;AK316351;AK316531;AK316534;AMYH01018482;BC003573;BC009251;BC029641;BC034440;BT006704;CH471157;CR457033;L06070;L06105;NM_004462;S76822;X69141 AAA36645;AAA60582;AAB33404;AAH03573;AAH09251;AAH29641;AAP35350;ABM81623;ABM84808;BAG51957;BAG58807;BAG60195;BAG61868;BAG62012;BAG63102;BAH11529;BAH14364;BAH14404;BAH14553;BAH14722;BAH14902;BAH14905;CAA48896;CAG33314;EAW65628;EAW65629;NP_004453;P37268 Hs.593928 1645575;1646520;1646522;1671223;1673967;1722441;2124335;2159877;2176247;5096720 A005M25;G20335;G60297;RH79108;SGC38394;SHGC-11994;SHGC-30677;SHGC-56439;STS-X69141;WI-18910 DGPT;ERG9;SQS;SS FPP:FPP farnesyltransferase;OTTHUMP00000116011;OTTHUMP00000229500;OTTHUMP00000229503;OTTHUMP00000229504;OTTHUMP00000229505;OTTHUMP00000229508;OTTHUMP00000229509;farnesyl diphosphate farnesyl transferase 1;presqualene-di-diphosphate synthase;squalene synthase;squalene synthetase APPROVED protein-coding ENSG00000079459 3629 01694 184420 REVIEWED 1342832 FECHP1 ferrochelatase pseudogene 1 3 3 3 p22.3 34856717 34859211 + 34889062 34891675 + 34914216 34916710 + 8034322 2236 ABBA01024887;AC092054;AMYH01013080;NG_001118;X69299 FECHP APPROVED pseudo 3648 INFERRED 1604250 FDX1L ferredoxin 1-like 19 19 19 p13.2 10316284 10322080 - 10281891 10287691 - 10420891 10426691 - 6480464 16344560;14702039;12477932;20877624;21832049;20547883;23208207 112812 Q6P4F2;Q8N8B8 ABBA01029936;ABBA01029937;AC011511;AK300568;AMYH01009470;AMYH01009471;AW245043;BC010155;BC063460;DA243025;NM_001031734 AAH63460;BAH13303;NP_001026904;Q6P4F2 Hs.654865 1771906;1778718 RH48407;WI-14289 FDX2;MGC19604;MGC74760 OTTHUMP00000180619;OTTHUMP00000201199;adrenodoxin-like protein, mitochondrial;ferredoxin-1-like protein protein-coding ENSG00000267673 30546 14465 614585 VALIDATED 1347982 FEM1AP1 fem-1 homolog a (C. elegans) pseudogene 1 21 21 q11.2 14053961 14059031 + 15134659 15136650 + 441957 AL050303;AMYH01012135;NG_021994 1709986 SHGC-82262 FEM1DP APPROVED pseudo 17219 INFERRED 69022 FDPS farnesyl diphosphate synthase This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] 1 1 q22 153545374 153557080 + 155278539 155290457 + 1580863;1300048;2316857;6480464;6907045 16876788 18687167;2690933;19494338;19056481;11785983;11773414;11160603;10620343;9030588;8188698;7584026;2018485;1968462;18660489;18494934;18327899;18325729;17963374;17387528;17368768;17198737;16713569;16684881;16650801;16344560;15713990;15146197;14702039;12477932;12020352;12107413;15342556;21151198;18029348;20877624;20450493;20191015;21196316;19060904;21963094;22053931;23000965;22863883;19471022;18781797;21139048;21890473;21906983;21987572;22338925;22278941;23234314;22505724 2224 P14324 ABBA01016711;AK021828;AK022841;AK291084;AL139410;AMYH01001427;BC010004;BE047993;BP370037;CD675633;CH471121;CN346026;D14697;DA610405;J05262;M29863;NM_001135821;NM_001135822;NM_001242824;NM_001242825;NM_002004 AAA35820;AAA52423;AAH10004;ABM84397;ABM86869;BAA03523;BAF83773;BAG51125;EAW53075;EAW53076;EAW53077;EAW53078;NP_001129293;NP_001129294;NP_001229753;NP_001229754;NP_001995;P14324 Hs.335918 1684122;1684972;1767527;2180657;5015961;5108976 D15S1171;D15S1477;D15S513;RH68206;RH68240;SHGC-2651 FPPS;FPS (2E,6E)-farnesyl diphosphate synthase;FPP synthase;FPP synthetase;OTTHUMP00000015807;OTTHUMP00000015808;dimethylallyltranstransferase;farensyl diphosphate synthase;farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase);farnesyl pyrophosphate synthase;farnesyl pyrophosphate synthetase;farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase;geranyltranstransferase APPROVED protein-coding ENSG00000160752 3631 00606 134629 REVIEWED 1347130 FDX1 ferredoxin 1 This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011] 11 11 q22 109805804 109840815 + 110300661 110335608 + 1580863;4145666;2325883;6480464 12709512;18821018 12477932;1863359;2969697;18519826;17188650;15927889;15489334;12782149;12699818;10899784;9890963;6270113;3872685;3343244;3339111;3229285;2340092;1917982;1909889;1429635;20689807;20547883;20379614;20877624;15146197;21636783;18029348;19616115;22101253 2230 P10109 AA505582;AB096243;ABBA01039831;AMYH01004028;AP000924;BC010284;BC017063;BQ650029;BT006681;CH471065;CN333249;DB459133;EF444978;J03548;M18003;M23665;M23668;M34785;M34786;M34788;NM_004109 AAA35829;AAA35855;AAA35856;AAA50462;AAA76853;AAA96806;AAH10284;AAH17063;AAP35327;ACA05992;EAW67132;NP_004100;P10109 Hs.744 1339591;1679443;1690268;1742515;1746141;2124645;2142557;2174619;5124360;7185667 A004I10;D11S1300;D4S3130;G64373;GDB:197839;RH28627;RH36031;RH67935;RH69129 ADX;FDX;LOH11CR1D OTTHUMP00000233613;adrenal ferredoxin;adrenodoxin, mitochondrial;ferredoxin-1;hepatoredoxin;mitochondrial adrenodoxin APPROVED protein-coding ENSG00000137714 3638 00059 103260 REVIEWED 5130652 FEM1AP3 fem-1 homolog a (C. elegans) pseudogene 3 6 6 6 q21 113428191 113429928 - 112793615 112795339 - 112686909 112688646 - 643859 ABBA01026077;AL365214;AMYH01016597;NG_022321 pseudo 39831 INFERRED 5130655 FEM1AP2 fem-1 homolog a (C. elegans) pseudogene 2 18 18 p11.21 14381406 14384015 - 14391915 14393905 - 390834 ABBA01074053;AMYH01008856;AP005212;NG_022481 1709986 SHGC-82262 pseudo 39830 INFERRED 5130651 FEM1AP4 fem-1 homolog a (C. elegans) pseudogene 4 13 13 13 q11 308273 311852 + 18136296 18139874 + 19238296 19241874 + 729524 ABBA01068525;AL359737;AMYH01004930;NG_011416 1709986 SHGC-82262 KIAA1785 pseudo 39832 INFERRED 2301592 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 11 11 11 q23.1 108897998 108903370 - 111249990 111255363 - 111744780 111750181 - 6480464 16344560;15146197;14702039;12477932;11181995;22939629 91893 B3KUL3;B4DUU2;E9PK62;Q9BRP7 ABBA01039811;ABBA01039812;AK097483;AK300795;AK311254;AMYH01004031;AP001781;AW296845;BC006136;BC127680;CH471065;CN260853;DB064223;DB451877;NG_029081;NM_138378;NR_038364 AAH06136;AAI27681;BAG53475;BAG62454;EAW67156;NP_612387;Q9BRP7 Hs.697132 5037552 D8S2279 FLJ58308;hCG_2033039 FDX-ACDB domain-containing protein 1;OTTHUMP00000234197;ferredoxin-fold anticodon-binding domain-containing protein 1;hypothetical protein BC006136 APPROVED protein-coding ENSG00000255561 25110 VALIDATED 1354439 FEN1P1 flap structure-specific endonuclease 1 pseudogene 1 1 1 1 p22.2 90041678 90043703 + 91566287 91568508 + 91793795 91795813 + 7774922;14562054;7774922 645931 ABBA01045566;AMYH01000788;AY249897;BX323048;NG_005887 1644016;1684568;2154453;2166031 D1S3426;RH11787;RH17908;SGC35814 FENL1 APPROVED pseudo 3651 INFERRED 6482955 FENDRR FOXF1 adjacent non-coding developmental regulatory RNA 16 q24.1 86508131 86542466 - 14702039;19571010;23034409;23369715 400550 ABBA01034301;AC009108;AC125792;AK091834;AK097312;AL833740;AMYH01007897;BQ671983;BX538111;CB049925;NR_033925;NR_036444 Hs.448825 1340691;1722851;1731381;1738663;1764151 D16S2784;D16S449;D16S520;G60368;SHGC-147794 DKFZp666B056;DKFZp686B02156;FLJ34515;FLJ39993;FOXF1-AS1;TCONS_00024240;lincFOXF1 APPROVED miscrna ENSG00000268388 43894 614975 VALIDATED 1350285 FEOM1 fibrosis of the extraocular muscles, congenital, 1 7240710 8075644 2240 3652 135700 1345858 FEOM3 fibrosis of extraocular muscles, congenital, 3 10393037 26176 1340596;1341050 D16S3063;D16S689 3654 734233 FDXR ferredoxin reductase This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012] 17 17 q25.1 70370214 70380751 - 72858619 72869156 - 1580863;2325883;6480464 18821018 12782149;2845396;18319262;1863359;16344560;15489334;14702039;12787114;12477932;12370809;12137805;11096094;11053423;8125298;2969697;2790061;2748461;2393675;2236061;1917982;20877624;19004824;22101253;21139048;21890473 2232 G3V0F2;J3KRG8;J3KS64;J3KTA3;J3QKZ8;J3QQW7;J3QQX3;J3QSF9;Q4PJI0;Q6GSK2 ABBA01028824;ABBA01028825;AC068874;AK094120;AK098648;AK223530;AK293208;AK293210;AK295307;AK298908;AK301779;AK301977;AMYH01008628;BC002960;BC011521;BC018911;BC034763;BC063493;BT006684;CH471099;DA267443;DQ085780;J03826;M58508;M58509;NM_001258012;NM_001258013;NM_001258014;NM_001258015;NM_001258016;NM_004110;NM_024417;NR_047576 AAA51668;AAA51669;AAB59497;AAB59498;AAH02960;AAH63493;AAP35330;AAY68215;BAD97250;BAG52818;BAG56748;BAG56750;BAG58287;BAG61016;BAG63236;BAH13598;EAW89205;EAW89206;EAW89207;EAW89208;EAW89209;NP_001244941;NP_001244942;NP_001244943;NP_001244944;NP_001244945;NP_004101;NP_077728;P22570 Hs.69745 1673381;1741197;2107093 FDXR__5184;GDB:178571;RH78900 ADXR AR;NADPH:adrenodoxin oxidoreductase, mitochondrial;adrenodoxin reductase;adrenodoxin-NADP(+) reductase;ferredoxin--NADP(+) reductase APPROVED protein-coding ENSG00000161513 3642 00060 103270 REVIEWED 1353975 FEM1A fem-1 homolog a (C. elegans) 19 19 19 p13.3 4729623 4733477 + 4742728 4746571 + 4791728 4795571 + 6480464 18757445;18270204;16390781;16254458;12477932;11733146;11559703;11441184;9828124;21145461;19615732;19948975;20200332;19913121;20628086;16424369;21890473;21906983;21963094;19322201;22678803 55527 Q9BSK4 ABBA01056043;AC005523;AJ311359;AK074232;AK126532;AK315554;AL359589;AL365408;AMYH01009345;AMYH01009346;AY356352;BC004988;CR749732;NM_018708 AAH04988;AAR10439;ABZ92346;BAG37930;CAB94875;CAB96952;CAC85342;CAH18491;NP_061178;Q9BSK4 Hs.515082 1646329;1685097;1734632;1734690;2185911;5113275 D19S635E;D19S690E;RH80153;RH80896;SHGC-63478;SHGC-63479 DKFZp762M136;EPRAP FEM1-alpha;fem-1 homolog a (c.elegans);prostaglandin E receptor 4-associated protein;protein fem-1 homolog A protein-coding ENSG00000141965 16934 16888 613538 VALIDATED 1312083 FEM1B fem-1 homolog b (C. elegans) 15 15 15 q22 45455064 45468563 + 66357195 66370694 + 68570141 68583640 + 1580863;6480464 10542291;10623617;15601820;19330022;18757445;12477932;12421765;10764728;9455477;21145461;19615732;19908242;19948975;20200332;11559703;18029348;17003112;19855191;21139048;21890473;18187417;18816836;23000965;23377640;19295130;22053931 10116 H3BT12;H3BTV3;Q9UK73 AB007856;ABBA01038785;AC021553;AC107871;AF178632;AF204883;AK098620;AK290167;AL833264;AMYH01006736;BC010122;BC014558;CH471082;NM_015322 AAF05314;AAF69303;AAH10122;AAH14558;ABW03902;BAA23692;BAF82856;EAW77818;EAW77819;NP_056137;Q9UK73 Hs.362733 1645167;1647321;1660867;1853309;2109301 D15S1093;D15S785;FEM1B_9044;RH44821;WI-19633 DKFZp451E0710;F1A-ALPHA;FIAA F1A-alpha;FEM-1-like death receptor binding protein;FEM1-beta;OTTHUMP00000164386;fem-1-like death receptor-binding protein alpha;fem-1-like in apoptotic pathway protein alpha;protein fem-1 homolog B protein-coding 3649 16889 613539 PROVISIONAL 1316819 FECH ferrochelatase The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010] 18 18 q21.3 53366535 53404988 - 55212073 55253969 - 1598932;1580863;1578396;4145285;4144542;4144806;6480464;6484113;6907045;7240710 8601739;1184741;16839620;6721832 11175906;8973195;1729699;15123683;1376018;18787536;18160121;17884090;17875872;17875605;17723290;17597821;17567154;17566985;17261801;17196862;16844398;16819399;16385445;16344560;15850836;15831704;15574461;15489334;15286165;15046047;14702039;14669009;12601550;12480705;12477932;12139757;12081474;12063482;11929053;11929052;11375302;10942404;9740232;9712849;9649563;9585598;9211198;8889548;8757534;8500787;8481408;8276824;8125298;7983009;7910885;7629135;3940245;3047929;2340297;2260980;1755842;180343;19322201;21145461;19888946;19615732;19657351;19691493;19703464;19767646;19965627;20379614;20877624;20337824;20850938;20966079;21132468;17342744;20360068;21659066;18758989;22114354;20972266;21139048;21890473;21906983;22190034;22505724;22712763;23016163 2235 K7EJM8;K7EJX5;K7EKP7;K7ELX4;K7EPN2;P22830;Q7KZA3 ABBA01056131;AC100847;AF495859;AF495860;AI767430;AJ250235;AJ709747;AK092416;AK223190;AK292937;AK299643;AMYH01009023;BC039841;BG772545;BT019958;BT019959;BU734879;BX571744;CH471096;D00726;DA990386;L36178;NG_008175;NM_000140;NM_001012515 AAA64787;AAH39841;AAM18070;AAM18071;AAV38761;AAV38762;BAA00628;BAC03882;BAD96910;BAF85626;BAG61566;CAB65962;CAE11869;EAW63046;EAW63047;NP_000131;NP_001012533;P22830 Hs.365365 1646770;1698000;1707348;1708766;1742395;1857623;2149333;2153316;2159442;2166680;2218532;5014063 D15S1390;D7S2739;FECH__4993;GDB:196608;RH102529;RH17513;RH36328;RH44862;SHGC-79296;SHGC-81615;STS-D00726;WI-20204 EPP;FCE OTTHUMP00000163616;OTTHUMP00000163617;ferrochelatase, mitochondrial;heme synthase;heme synthetase;protoheme ferro-lyase;protoporphyria APPROVED protein-coding 3647 01509 177000;612386 REVIEWED 1319607 FEM1C fem-1 homolog c (C. elegans) 5 5 5 q22 110805894 110829879 - 114884507 114908490 - 114856608 114880591 - 6480464 18757445;14527725;12477932;11733146;11347906;21145461;19615732;21139048;21890473;21906983;19322201 56929 Q96JP0 AB058688;ABBA01069032;AC008628;AC010226;AF391093;AK025265;AK315803;AL050087;AL110246;AL365409;AL365415;AL831817;AMYH01015563;AY249188;BC028369;BC098385;CH471086;NM_020177;W07603 AAH28369;AAL37627;AAO64429;ABM84509;ABM85720;BAB15096;BAB47414;BAG38144;CAB96953;CAB96957;CAD38531;EAW48963;NP_064562;Q96JP0 Hs.47367 1689282;1694786;5094957 FEM1C;G43610;RH65256 EUROIMAGE686608;EUROIMAGE783647;FEM1A;KIAA1785 FEM1-gamma;OTTHUMP00000159135;fem-1 homolog c (c.elegans);protein fem-1 homolog C protein-coding ENSG00000145780 16933 16384 608767 VALIDATED 1625099 FER1L6 fer-1-like 6 (C. elegans) 8 8 8 q24.1 121142008 121320410 + 124933408 125201483 + 124864227 125132302 + 6480464 20200978;20379614;21890473 654463 Q2WGJ9 AB196633;ABBA01037885;ABBA01037886;ABBA01037887;ABBA01037888;ABBA01037889;ABBA01037890;AC011134;AC090753;AC100871;AMYH01019005;AMYH01019006;DV080599;DW010047;NM_001039112 BAE53435;NP_001034201;Q2WGJ9 Hs.632058 1338323;1649799;1652179;1676186;1705840;1731889;1732059;1786536 D8S1804;D8S2064;D8S54;D8S598;RH65554;RH92138;SHGC-106961;SHGC-81177 C8ORFK23 OTTHUMP00000228170;fer-1-like protein 6 protein-coding ENSG00000214814 28065 VALIDATED 1625097 FER1L5 fer-1-like 5 (C. elegans) 2 2 2 q11.2 91749797 91811871 + 96724921 96734207 + 97308574 97370624 + 6480464 12477932;11181995;21926972 90342 A0AVI2 ABBA01036584;ABBA01036585;ABBA01036586;ABBA01036587;ABBA01123827;ABBA01224008;AC068539;AC079754;AK126032;AL133022;AMYH01010726;AY461813;BC117324;BC126368;BC143825;CH471207;NM_001113382 A0AVI2;AAI17325;AAI26369;AAI43826;AAS19933;BAC86403;EAW71345;EAW71346;NP_001106853 Hs.534025 1700774;5019070;5022651 D11S2921;G44334;RH104012 fer-1-like 5;fer-1-like protein 5 protein-coding 19044 PROVISIONAL 1314798 FER fer (fps/fes related) tyrosine kinase Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. [provided by RefSeq, Jul 2008] 5 5 q21 108111422 108551272 + 108083523 108523373 + 1580863;6480464;6484113 11006284;2209086;19147545;17192257;16732323;15324660;14517306;12871378;12738762;12640114;12477932;12118379;11994747;10921917;10878010;10411641;9748248;9742951;9742093;9722593;8247543;7623846;3472906;3350007;2725517;2685575;2156206;1990274;1663488;1651563;10998246;19913121;20628086;18029348;18985748;19339212;19738202;19835603;21122136;21518868;21700879;12972546;21890473;21906983;22238358;22223638;20881960;16273093;22939624;23445469;18271526 2241 B4DDX7;D6RAF9;P16591;Q05DA5 ABBA01069093;ABBA01069094;ABBA01069095;ABBA01069096;ABBA01069097;ABBA01069098;ABBA01069099;ABBA01069100;AC008871;AC008955;AC010228;AC011421;AC034207;AC109481;AC116428;AK293376;AK296874;AK299855;AK315234;AMYH01015539;AMYH01015540;BC017060;BC058030;CH471086;J03358;JQ412173;NG_011445;NM_005246 AAA61190;AAH17060;AAH58030;AAI41560;AEY69041;BAG37661;BAG56888;BAG59436;BAG61714;EAW49054;EAW49055;EAW49056;NP_005237;P16591 Hs.221472 1668545;1686352;1706816;1785236;1854144;1854937;2113816;2116767;2121491;2141690;2150772 D5S1763;GJA1;HSC2MH092;RH27497;RH66216;RH68965;RH71338;SHGC-101669;SHGC-31298;SHGC-80885;WI-6988 FerT;PPP1R74;TYK3 OTTHUMP00000158945;feline encephalitis virus-related kinase FER;fujinami poultry sarcoma/Feline sarcoma-related protein Fer;p94-Fer;phosphoprotein NCP94;protein phosphatase 1, regulatory subunit 74;proto-oncogene c-Fer;tyrosine kinase 3;tyrosine-protein kinase Fer APPROVED protein-coding 3655 01491 176942 REVIEWED 1350956 FER1L4 fer-1-like 4 (C. elegans) pseudogene 20 20 20 q11.22 30894820 30943779 - 33609921 33651008 - 34146507 34195484 - 6480464 17512949;16344560;15146197;14702039;12477932;10192385;9175703;15066638;20686565 80307 A9Z1Z3 ABBA01019154;ABBA01019155;ABBA01019156;ABBA01019157;AF218012;AF218030;AI219207;AI741534;AK023521;AK026266;AL109827;AL121586;AL389875;AL833764;AMYH01011874;AMYH01011875;AY461812;BC029951;BX648024;CH471077;CN290811;DA854396;DA859834;DR731183;FO393401;NR_024377 A9Z1Z3;AAS19932;BAB14597;CAB89410;CAI20117;EAW76196 Hs.72222 1714873;1750513;1801058;1802474;1802588;1802656;1803632;1804046;1804424;1804668;1804816;1804858;1804992;1808296;1812342;1817268;1820186;1821374;1822070;1822150;1823234;1823994;1824068;1825496;1825724;1829514;1829928;1830728;1836798;1974664;1974666;1974668;1974670;1974672;1974674;1974676;1974678;1974680;1974682;1974684;1974686;1974688;1974690;1974692;1974694;1974696;1974698;1974700;1974702;1974704;1974706;1974708;1974710;1974712;1974714;1974716;1974718;1974720;1974722;1974724;1974726;1974728;1974730;1974732;1974734;1974736;1974738;1974740;1974742;1974744;1974746;1974748;1974750;1974752;1974754;1974756;1974758;1974760;1974762;1974764;1974766;1974768;1974770;1974772;1974774;1974776;1974778;1974780;1974782;1974784;1974786;1974788;1974790;1974792;1974794;1974796;1974798;1974800;1974802;1974804;1974806;1974808;1974810;1974812;1974814;1974816;1974818;1974820;1974822;1974824;1974826;1974828;1974830;1974832;1974834;1974836;1974838;1974840;1974842;1974844;1974846;1974848;1974850;1974852;1974854;1974856;1974858;1974860;1974862;1974864;1974866;1974868;1974870;1974872;1974874;1974876;1974878;1974880;1974882;1974884;1974886;1974888;1974890;1974892;1974894;1974896;1974898;1974900;1974902;1974904;1974906;1974908;1974910;1974912;1974914;1974916;1974918;1974920;1974922;1974924;1974926;1974928;1974930;1974932;1974934;1974936;1974938;1974940;1974942;1974944;1974946;1974948;1974950;1974952;1974954;1974956;1974958;1974960;1974962;1974964;1974966;1974968;1974970;1974972;1974974;1974976;1974978;1974980;1974982;1974984;1974986;1974988;1974990;1974992;1974994;1974996;1974998;1975000;1975002;1975004;1975006;1975008;1975010;1975012;1975014;1975016;1975018;1975020;1975022;1975024;1975026;1975028;1975030;1975032;1975034;1975036;1975038;1975040;1975042;1975044;1975046;1975048;1975050;1975052;1975054;1975056;1975058;1975060;1975062;1975064;1975066;1975068;1975070;1975072;2215426;2215428;2215430;2215432;2215434;2215436;2215438;2215440;2215442;2215444;2215446;2215448;2215450;2215456;2215458;2215460;2215462;2215464;2215466;2215468;2215470;2215472;2215474;2215476;2215478;2215480 ECD01397;ECD02123;ECD02181;ECD02215;ECD02722;ECD02940;ECD03136;ECD03266;ECD03341;ECD03364;ECD03436;ECD05129;ECD07178;ECD09684;ECD11167;ECD11771;ECD12121;ECD12161;ECD12706;ECD13093;ECD13130;ECD13856;ECD13970;ECD15888;ECD16097;ECD16500;ECD19563;REN58218;REN58219;REN58220;REN58221;REN58222;REN58223;REN58224;REN58225;REN58226;REN58227;REN58228;REN58229;REN58230;REN58231;REN58232;REN58233;REN58234;REN58235;REN58236;REN58237;REN58238;REN58239;REN58240;REN58241;REN58242;REN58243;REN58244;REN58245;REN58246;REN58247;REN58248;REN58249;REN58250;REN58251;REN58252;REN58253;REN58254;REN58255;REN58256;REN58257;REN58258;REN58259;REN58260;REN58261;REN58262;REN58263;REN58264;REN58265;REN58266;REN58267;REN58268;REN58269;REN58270;REN58271;REN58272;REN58273;REN58274;REN58275;REN58276;REN58277;REN58278;REN58279;REN58280;REN58281;REN58282;REN58283;REN58284;REN58285;REN58286;REN58287;REN58288;REN58289;REN58290;REN58291;REN58292;REN58293;REN58294;REN58295;REN58296;REN58297;REN58298;REN58299;REN58300;REN58301;REN58302;REN58303;REN58304;REN58305;REN58306;REN58307;REN58308;REN58309;REN58310;REN58311;REN58312;REN58313;REN58314;REN58315;REN58316;REN58317;REN58318;REN58319;REN58320;REN58321;REN58322;REN58323;REN58324;REN58325;REN58326;REN58327;REN58328;REN58329;REN58330;REN58331;REN58332;REN58333;REN58334;REN58335;REN58336;REN58337;REN58338;REN58339;REN58340;REN58341;REN58342;REN58343;REN58344;REN58345;REN58346;REN58347;REN58348;REN58349;REN58350;REN58351;REN58352;REN58353;REN58354;REN58355;REN58356;REN58357;REN58358;REN58359;REN58360;REN58361;REN58362;REN58363;REN58364;REN58365;REN58366;REN58367;REN58368;REN58369;REN58370;REN58371;REN58372;REN58373;REN58374;REN58375;REN58376;REN58377;REN58378;REN58379;REN58380;REN58381;REN58382;REN58383;REN58384;REN58385;REN58386;REN58387;REN58388;REN58389;REN58390;REN58391;REN58392;REN58393;REN58394;REN58395;REN58396;REN58397;REN58398;REN58399;REN58400;REN58401;REN58402;REN58403;REN58404;REN58405;REN58406;REN58407;REN58408;REN58409;REN58410;REN58411;REN58412;REN58413;REN58414;REN58415;REN58416;REN58417;REN58418;REN58419;REN58420;REN58421;REN58422;RH120431;SHGC-111820;stSG636704;stSG636705;stSG636707;stSG636708;stSG636709;stSG636710;stSG636711;stSG636712;stSG636713;stSG636715;stSG636716;stSG636717;stSG636718;stSG636721;stSG636722;stSG636723;stSG636724;stSG636725;stSG636726;stSG636727;stSG636729;stSG636730;stSG636731;stSG636732;stSG636733;stSG636734 C20orf124;DKFZp686F01207;FLJ13459;FLJ22613;bA563A22B.1;dJ309K20.1 APPROVED pseudo 15801 MODEL 732679 FEN1 flap structure-specific endonuclease 1 The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008] 11 11 q12 61316726 61321286 + 61560109 61564716 + 737746;1580863;6480464;6484520;6484213;6907045 12119409;19010819;17589521 18499658;18443037;18417526;18394896;18291413;18097100;17488975;17176113;16914748;16582103;16554811;16216273;16169070;15758026;15635413;15616578;15592449;15579905;15561706;15556996;15489334;15131255;15037610;14690413;14688284;14657243;14562054;12917330;12856420;12853968;12683998;12554738;12515398;12494477;12477932;12453426;12427278;12411510;12356323;12200445;12065902;11948189;11601988;11598021;11260214;10635332;10559261;10545607;10460157;9778254;9545252;9445487;9214649;8876181;7774922;7673186;1477073;7961795;8621570;11986308;8007985;8131753;9305916;11430825;15504738;19329428;19218431;19208620;19068479;18786645;18669164;18662981;18541666;11313979;21454907;9178907;9705499;12171929;20551483;20574454;20802161;20444887;20643645;20729856;18029348;18995831;19525235;19618370;19674974;20019387;20126648;20226869;20496165;20522537;17115032;20819778;15146197;15342556;21345332;16133872;16326861;16543152;21496641;23184144;18692475;21832049;22863883;22939629;22990118;15576034;18781797;21900206;21987572;22072618;22556262;22606318;21139048;21890473;21906983;22592530;22011247;19471022;22145905;21252943;21829377;19595719;21044950;21628590;22244820;22586102;22749529;22751659;19738201;21963094;23000965;23382697;22505724;22139419;22787431;23128233;23277564;23362303;23378610;8668533 2237 AAB32522;F5H1Y3;I3L3E9;P39748;Q6FHX6 ABBA01003206;AC004770;AF523117;AK301743;AK312761;AMYH01003683;AP002380;BC000323;BM450370;BP244711;BT019524;CH471076;CN290841;CR536562;L37374;NM_004111;U73629;X76771 AAA91331;AAB32522;AAC23394;AAH00323;AAM74238;AAV38331;BAG35627;BAG63206;CAA54166;CAG38799;EAW73972;NP_004102;P39748 Hs.409065 1644016;1648105;1684568;2154453;2166031;2166033 D11S2269E;D11S4603;D1S3426;RH11787;RH17908;SGC35814 FEN-1;MF1;RAD2 DNase IV;OTTHUMP00000238148;OTTHUMP00000238149;flap endonuclease 1;hFEN-1;maturation factor 1;maturation factor-1 APPROVED protein-coding ENSG00000168496 3650 02670 600393 REVIEWED 1605153 FERP1 fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1 X X X q25 123122943 123123735 + 122564671 122565463 + 122736990 122737782 + 553112 ABBA01036351;AL030996;AMYH01022935;NG_005390;NG_021468 FERP;FERps APPROVED pseudo 26443 INFERRED 1605483 FER1L6-AS1 FER1L6 antisense RNA 1 8 8 8 q24.13 121184425 121241055 - 125065559 125122204 - 124996378 125053023 - 14702039;12477932 439941 Q8NA97 ABBA01037888;AC090753;AC100871;AK093040;AMYH01019005;BC137357;CH471060;NR_040044 AAI37358;BAC04029;EAW92055;Q8NA97 Hs.683919 1652179;1731889 D8S54;RH65554 C8orf54;FLJ35721 APPROVED miscrna ENSG00000181171 26652 VALIDATED 1323462 FERD3L Fer3-like (Drosophila) 7 7 7 p21.1 19164004 19164643 - 19150930 19151569 - 19184405 19185044 - 6480464 12690205;12477932;12217327;11472856;23251661 222894 Q96RJ6 AACC02000007;ABBA01056655;AC003986;AF369897;AF517122;AMYH01017097;BC069147;BC101135;BC101136;BC101137;BC101138;CH236948;CH471073;NM_152898 AAH69147;AAI01136;AAI01137;AAI01138;AAI01139;AAK72956;AAN04086;EAL24278;EAW93712;EAW93713;NP_690862;Q96RJ6 Hs.592168 2220398;5493071 UniSTS:481459;UniSTS:484139 MGC119861;N-TWIST;NATO3;NTWIST;bHLHa31 OTTHUMP00000116045;basic helix-loop-helix protein N-twist;class A basic helix-loop-helix protein 31;fer3-like protein;nephew of atonal 3;neuronal twist protein-coding ENSG00000146618 16660 16890 VALIDATED 7246874 FER1L6-AS2 FER1L6 antisense RNA 2 12477932;14702039;15489334 157376 Q96M78 AC090921;AC100871;AI425048;AK057332;BC101502;BC101506;CH471060;NM_182525;NR_103547 BAB71431;EAW92056;EAW92057;NP_872331 Hs.662360 1649799;1676186;1705840 D8S2064;RH92138;SHGC-81177 C8orf78 miscrna 26534 08138 PREDICTED 1315645 FERMT1 fermitin family member 1 This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009] 20 20 p12.3 6003492 6052191 - 6055492 6104191 - 1600405;6480464 12668616 19292718;19240021;19200189;18835760;18652585;18528435;17989907;17916195;17460733;17178989;17012746;16675959;16051467;15927810;14962093;14702039;14634021;12789646;12697302;12477932;9472028;8125298;21356350;20028441;19762710;19762715;19804783;19854292;19945623;20306291;21146372;21832234;21309038;21220475;21336475;21936020;22318606;22220914;23267142;23209705 55612 G3V1L6;Q49AC8;Q54A15;Q5JWV4;Q9BQL6 AB105105;ABBA01053898;ABBA01053899;ABBA01053900;AF443278;AK000123;AK000747;AK025365;AK027076;AK092195;AK225216;AK314394;AL118505;AMYH01011696;AY137240;BC035882;BC040545;BX647465;CH471133;NG_016213;NM_017671 AAH35882;AAH40545;AAM94174;AAN75822;BAA90957;BAA91358;BAC03826;BAD12269;BAG37018;EAX10392;EAX10393;EAX10394;EAX10395;NP_060141;Q9BQL6 Hs.472054 1660210;1677917;5491481 MARC_15247-15248:1012578424:3;RH99293;SHGC-56771 C20orf42;DTGCU2;FLJ20116;FLJ23423;KIND1;UNC112A;URP1 OTTHUMP00000030222;UNC112 related protein 1;chromosome 20 open reading frame 42;fermitin family homolog 1;kindlerin;kindlin 1;kindlin syndrome protein;unc-112-related protein 1 APPROVED protein-coding ENSG00000101311 15889 06388 607900 REVIEWED 1351543 FEV FEV (ETS oncogene family) This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008] 2 2 q36 219554053 219558623 - 219845809 219850379 - 1580863;6480464 9121764;18391951;17597646;15758173;15003288;12761502;12477932;10949935;20480378;20546612;19707175;19874574;20048018;20468064;22542470 54738 Q99581 ABBA01023853;AC097468;AMYH01011500;BC023511;CH471063;NG_023323;NM_017521;Y08976 AAH23511;AAX88917;ABM84328;ABM87783;CAA70169;EAW70664;NP_059991;Q99581 Hs.234759 2190849 ETV2 HSRNAFEV;PET-1 FEV (fifth Ewing variant);OTTHUMP00000164098;PC12 ETS domain-containing transcription factor 1;PC12 ETS factor 1;fifth Ewing variant protein;protein FEV APPROVED protein-coding ENSG00000163497 18562 06193 607150 REVIEWED 1348659 FETUB fetuin B The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008] 3 3 3 q27 184794517 184807165 + 187840843 187853491 + 186358149 186370797 + 68778;1580863;6480464 10947975 1284814;16797392;16335952;15499407;15489334;15280384;12943536;12477932;8889549;23314748;22703881;22739111 26998 B7Z8T3;C9JC68;E9PG08;F8WAW1;F8WEP7;Q9UGM5 AB017551;ABBA01058385;AC068631;AF534529;AJ242928;AK303859;AK309647;AK315309;AMYH01013734;AY373820;AY373821;BC069670;BC069820;BC074734;BC114616;BX115543;CH471052;NM_014375 AAH69670;AAH69820;AAH74734;AAI14617;AAQ10515;AAR22507;AAR22508;BAA78341;BAG37713;BAH14069;CAB62538;EAW78185;EAW78186;NP_055190;Q9UGM5 Hs.81073 1687125;1797526;1847036;1849041;2134531;5122635 FETUB_1912;RH11607;RH99138;SHGC-33193;SHGC-34439;STS-R98821 16G2;Gugu;IRL685 OTTHUMP00000210120;OTTHUMP00000210121;OTTHUMP00000210124;fetuin-B;fetuin-like protein IRL685 APPROVED protein-coding ENSG00000090512 3658 09335 605954 REVIEWED 1602673 FERMT3 fermitin family member 3 Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010] 11 11 q13.1 63730782 63747939 + 63974152 63991363 + 6480464;7240710 15231747;19240021;19234463;19234461;19064721;18779414;18280249;15489334;14702039;12886250;12789646;12697302;12477932;22334666;20378539;20216991;20357244;19234460;19617577;19647987;19854292;21832049;22983444;22564402;23022222;22139635;21536861;19738201;22623428;23595985;23012377;23144497;21911599;21871525;21890473;21784300;21044950;22134107;22505724 83706 F5H1C6;F5H3I6;H0YFT5;Q86UX7 ABBA01003288;ABBA01003289;AK093719;AL560215;AMYH01003702;AP005668;AY093951;AY093952;BC004347;BC013366;BC015584;BG491422;CH471076;L25343;NG_016360;NM_031471;NM_178443 AAH04347;AAH13366;AAH15584;AAM19736;AAM19737;BAC04220;EAW74199;EAW74200;NP_113659;NP_848537;Q86UX7 Hs.180535 2138103;2153127;2185863 G33073;RH41986;WI-16915 KIND3;MGC10966;MIG-2;MIG2B;UNC112C;URP2;URP2SF MIG2-like protein;OTTHUMP00000236869;OTTHUMP00000236870;UNC-112 related protein 2;fermitin family homolog 3;kindlin 3;unc-112-related protein 2 APPROVED protein-coding ENSG00000149781 23151 07440 607901;612840 REVIEWED 1323441 FERMT2 fermitin family member 2 14 14 q22.1 52393743 52487460 - 53323989 53417815 - 6480464 18528435;18458155;17081983;15489334;14745725;14702039;12789646;12697302;12679033;12508121;12477932;8175911;21636915;22648415;21356350;20127858;19854292;20861856;20702409;21325030;23383273;18781797;22078565;21624607;22391155;21832049;22863883;22939629;21922223;18029348;19805454;23000965;23211537;22056622;21139048;21890473;22030399;22699938;23209705;23151599;23337877 10979 G3V281;G3V379;G3V3J0;G3V5R2;H0YJ34;H0YJB6;Q96AC1 ABBA01018176;ABBA01018177;ABBA01018178;AF443279;AK126426;AK291738;AL139317;AL352979;AMYH01005735;AMYH01005736;AMYH01005737;BC011125;BC017327;BX161467;CH471061;CR749486;EU979385;NM_001134999;NM_001135000;NM_006832;Z24725 AAH17327;AAN75823;ACE86749;ACE87435;ACH73257;BAF84427;CAA80852;CAD61925;EAW80618;EAW80619;EAW80620;NP_001128471;NP_001128472;NP_006823;Q96AC1 Hs.509343 1336101;1797154;2135433;2138448;2159324;2162136;5014051;5021872;5037552;5109283 D14S589;D1S1431;D8S2278;D8S2279;G35911;G36139;MIG2_(5);RH15723;RH47352;sY3084 DKFZp686G11125;FLJ34213;FLJ44462;KIND2;MIG2;PLEKHC1;UNC112;UNC112B;mig-2 OTTHUMP00000179004;OTTHUMP00000179005;OTTHUMP00000245253;OTTHUMP00000245254;OTTHUMP00000245256;PH domain-containing family C member 1;fermitin family homolog 2;kindlin 2;kindlin-2;mitogen inducible gene 2 protein;mitogen-inducible gene 2 protein;pleckstrin homology domain containing, family C (with FERM domain) member 1;pleckstrin homology domain containing, family C member 1;pleckstrin homology domain-containing family C member 1 APPROVED protein-coding ENSG00000073712 15767 06374 607746 VALIDATED 6770016 FEZF1-AS1 FEZF1 antisense RNA 1 7 q31.32 121943712 121950131 + 14702039 154860 AACC02000001;ABBA01057748;AC015983;AK057037;AMYH01017899;CH236947;CH471070;NR_036484 EAW83569;EAW83570 Hs.664204 APPROVED miscrna ENSG00000230316 41001 VALIDATED 735511 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008] 2 2 2 p21 36620493 36666401 - 36632905 36678836 - 36779401 36825332 - 1580863;6480464 14690447;9096408;16484223;15815621;14697253;12477932;10931946;10642437;8228263;20201926;20379614;21408165;21139048 9637 F8W6C0;F8WB37;G3V0F5;H7C0L4;H7C0W1;H7C434;Q7Z674;Q9UHY8 AB076184;AB209719;ABBA01074965;ABBA01074966;AC007401;AF113124;AF168681;AK025274;AL117593;AMYH01010254;BC018032;BC037566;BC047020;BC054043;BC064484;BC089390;BC110386;BX537785;CH471053;L17328;NM_001042548;NM_005102;U60061;U69140 AAB02341;AAB40661;AAC51283;AAF14865;AAH18032;AAH54043;AAH64484;AAH89390;AAI10387;AAY14650;BAD06207;BAD92956;CAD97842;EAX00420;EAX00421;EAX00422;EAX00423;EAX00424;EAX00425;NP_001036013;NP_005093;Q9UHY8 Hs.258563 1657068;1847107;1850894;2155574 D2S2595;RH11555;STS-AA035390;WI-17612 HUM3CL;MGC117372 OTTHUMP00000201286;OTTHUMP00000201287;OTTHUMP00000201289;OTTHUMP00000201293;fasciculation and elongation protein zeta-2;pre-T/NK cell associated protein (3Cl);zygin 2;zygin II;zygin-2 APPROVED protein-coding ENSG00000171055 3660 09213 604826 REVIEWED 1319652 FES feline sarcoma oncogene This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009] 15 15 q26.1 89228713 89240010 + 91427665 91439006 + 1580863;6480464;6484113 6264598;18029348;19464057;19382747;19082481;19051325;19001085;18775312;18046454;17595334;17521372;16792528;16455651;16344560;15929003;15869325;15713745;15630569;15489334;15485904;15099290;15003822;12871378;12653561;12543931;12477932;12093729;11994747;11700021;11339827;11160325;11071635;10856136;9754447;9714332;8999909;8955135;8916957;8663427;8631962;8449035;8108116;8007965;7700650;7691175;7529874;7523858;7518439;6323103;6183005;4065096;3947550;3488499;2426571;2179816;1870997;1862005;1373879;10706130;9222609;17353931;19913121;20628086;11604131;19865112;19885553;20117079;20030920;11509660;15302586;2656706;7687763;19953087;21890473;21900206;21909110;21909115;21044950;16273093;19060904;22939624;23404507;22505724 2242 C9J3W6;E7EMJ7;E7ENM8;E9PGC7;E9PIJ7;H0YNN8;H0YNT6;Q6GTU5 ABBA01053070;AC124248;AK300595;AK300605;AK309530;AK312545;AMYH01006924;AY513654;AY513655;AY513656;AY513657;BC035357;CH471101;DA782386;DB264752;DQ048387;M14209;M14589;NG_029671;NM_001143783;NM_001143784;NM_001143785;NM_002005;X06292;X52192 AAA52441;AAA53105;AAH35357;AAS82866;AAS82867;AAS82868;AAS82869;ABM82276;ABM85456;BAG35443;BAG62292;BAG62301;CAA29619;CAA36438;EAX02113;EAX02114;EAX02115;EAX02116;NP_001137255;NP_001137256;NP_001137257;NP_001996;P07332 Hs.7636 1677770;1712318;1741319;2109303;2116475;2176748;2217342 FES_8346;FURIN_659;G54068;GDB:180414;RH1636;RH93529;STS-X52192 FPS OTTHUMP00000194752;OTTHUMP00000195202;OTTHUMP00000195203;OTTHUMP00000233982;OTTHUMP00000233984;Oncogene FES, feline sarcoma virus;c-fes/fps protein;feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog;feline sarcoma/Fujinami avian sarcoma oncogene homolog;p93c-fes;proto-oncogene c-Fes;proto-oncogene c-Fps;proto-oncogene tyrosine-protein kinase Fes/Fps;tyrosine-protein kinase Fes/Fps APPROVED protein-coding ENSG00000182511 3657 01814 190030 REVIEWED 1604689 FEZF1 FEZ family zinc finger 1 7 7 7 q31.32 116745770 116748887 - 121729287 121731835 - 121941448 121944565 - 6480464 19401682;19318583;12477932;21170990;16999686 389549 A0PJY2;C9J0C5 AACC02000001;ABBA01057748;ABBA01057749;AC015983;AK300742;AMYH01017899;AY726588;BC127714;BC127715;BC136684;BC144367;CB104829;CH236947;CH471070;DC386457;NM_001024613;NM_001160264 A0PJY2;AAI27715;AAI27716;AAI36685;AAI44368;BAG62411;EAL24342;EAW83568;NP_001019784;NP_001153736 Hs.553970 5095090 Fezf1 FEZ;ZNF312B OTTHUMP00000211450;OTTHUMP00000211451;fez family zinc finger protein 1;zinc finger protein 312-like;zinc finger protein 312B protein-coding ENSG00000128610 22788 18614 613301 VALIDATED 732377 FEZ1 fasciculation and elongation protein zeta 1 (zygin I) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008] 11 11 q24.2 124820858 124871333 - 125315641 125366206 - 704404;1580863;6480464;7240710 22451907;14690447;15383276;16169070;9096408;19367581;19251251;18615714;18470533;18439996;17374448;17200414;16484223;15843383;15522253;15489334;15466860;12874605;12477932;11856312;9971736;19924516;15146197;16344560;8889548;18583979;19632097;19667186;20084519;20730382;20812761;21408165;23894747;18029348;21900206;22099459;22017218;22688191;22832604 9638 E9PNH2;J3KTR6;Q99689 ABBA01031244;AK296554;AMYH01004104;AMYH01004105;AP000708;BC009545;BM663785;CH471065;CN310685;CR456817;CR541954;DA697171;NM_005103;NM_022549;U60060;U60062;U69139 AAB40660;AAC51282;AAC51284;AAH09545;ABM81889;ABM85061;BAG59177;CAG33098;CAG46752;EAW67636;EAW67637;EAW67638;EAW67639;NP_005094;NP_072043;Q99689 Hs.224008;Hs.732083 1654467;1656704;1694818;1739379;1740827;1849172;5015861;7185938 D10S16;D11S3963E;D11S4449;G43640;RH70489;SHGC-32309;SHGC-33748 OTTHUMP00000231425;OTTHUMP00000231427;OTTHUMP00000231429;fasciculation and elongation protein zeta-1;protein kinase c-binding protein zeta1;zygin I;zygin-1 APPROVED protein-coding ENSG00000149557 3659 09212 133239;604825 REVIEWED 1346685 FEZF2 FEZ family zinc finger 2 3 3 3 p14.2 62372439 62376282 - 62330387 62334230 - 62355347 62359190 - 1580863;6480464 16344560;9921901;14702039;12477932;11025224;8889548;20570630;21471212 55079 Q8TBJ5 ABBA01024329;AC092502;AF064845;AF332890;AK001004;AK290464;AMYH01013241;BC022464;BM930804;CH471055;DA492936;DR002892;H28929;NM_018008 AAG50287;AAH22464;BAA91464;BAF83153;EAW65403;EAW65404;NP_060478;Q8TBJ5 Hs.241523 1850619;2110087;2191139 GDB:1318551;MARC_15281-15282:1013612096:1;ZNF312_9872 FEZ;FEZL;FKSG36;FLJ10142;TOF;ZFP312;ZNF312 OTTHUMP00000213299;OTTHUMP00000213300;OTTHUMP00000213301;fez family zinc finger protein 2;forebrain embryonic zinc finger-like protein 2;zinc finger protein 312;zinc finger protein Fez-like protein-coding ENSG00000153266 13506 07596 607414 VALIDATED 1322276 FFAR3 free fatty acid receptor 3 19 19 q13.1 40541342 40543231 + 35849488 35851391 + 1580863;6480464 9344866;16887331;15684720;15489334;14722361;12711604;12496283;12477932;8496602;1985119;19460454;18801738;19574715;19630535;16754659;21220428;23066016;22493486;22712802;22884094 2865 O14843 ABBA01018740;ABBA01018741;ABBA01018742;ABBA01018743;AC002511;AF024688;AK290710;AMYH01009727;BC035657;BC113695;BC148269;EU432115;NM_005304;U62631 AAB86711;AAH35657;AAI13696;AAI48270;ABM82161;ABM85345;ABY87914;BAF83399;NP_005295;O14843 Hs.248055 1797630 GPR42_2019 FFA3R;GPR41 G-protein coupled receptor 41;free fatty acid receptor 3 protein-coding ENSG00000185897 4499 04823 603821 VALIDATED 1347517 FFAR2 free fatty acid receptor 2 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009] 19 19 q13.1 40632457 40633449 + 35940617 35942669 + 1580863;6480464 9344866;19047536;19009545;18827341;18818303;18812643;18801738;18499755;17899402;16887331;20837008;15684720;15489334;15057824;12711604;12684041;12496283;12477932;12393494;19780758;19460454;21216233;21037097;20979106;21220428;23066016;21988832;22919070;22712802 2867 C6KYL4;O15552 AB378083;ABBA01018745;AC002511;AF024690;AMYH01009728;AX810701;BC095535;BC096198;BC096199;BC096200;BC096201;CA309917;CK819813;CS173025;EU432114;NM_005306 AAB67886;AAB86713;AAH95535;AAH96198;AAH96199;AAH96200;AAH96201;ABY87913;BAH86809;CAJ33694;NP_005297;O15552 Hs.248056 5037552;5493037 D8S2279;UniSTS:483907 FFA2R;GPR43 G-protein coupled receptor 43;free fatty acid activated receptor 2;free fatty acid receptor 2 APPROVED protein-coding ENSG00000126262 4501 04824 603823 REVIEWED 736481 FFAR1 free fatty acid receptor 1 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009] 19 19 q13.1 40534295 40535197 + 35842445 35843367 + 1580863;2315761;2316010;6480464 19758793;19208915 9344866;19401434;19068482;19047536;19009545;18947221;18927207;18827341;18583466;18191887;17987108;17699519;17525159;17200419;16525841;16289108;15736105;15695516;15684720;15606695;15489334;12629551;12565875;12496284;12477932;22493486;19460454;20227312;19913121;20628086;21552566;22106100;21570468;23378609;23023155;22712802 2864 O14842;Q0IJ71 ABBA01018740;AF024687;AMYH01009727;BC095536;BC120943;BC120944;EF611308;NM_005303;U62631 AAB86710;AAH95536;AAI20944;AAI20945;ABQ96386;NP_005294;O14842 Hs.248127 FFA1R;GPCR40;GPR40 G protein-coupled receptor 40;G-protein coupled receptor 40;free fatty acid receptor 1 APPROVED protein-coding ENSG00000126266 4498 04822 603820 REVIEWED 1317919 FFAR4 free fatty acid receptor 4 This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 10 10 10 q23.33 89067548 89088491 + 95316412 95337356 + 95326422 95349829 + 1302390;6480464;7240710 14623098 16341674;15619630;15164054;12679517;12477932;21868624;20471368;16344560;20677014;19723586;19460454;20813258;21878437;22343897;22282525 338557 B4DWG6;Q5NUL3 AB115768;ABBA01021866;AI469384;AI732606;AK301525;AL356214;AMYH01002960;AY255573;AY288417;BC101175;BM757151;BX647721;CH471066;DA986310;NG_032670;NM_001195755;NM_181745 AAI01176;AAO85085;AAP72126;BAD83368;BAG63028;EAW50069;EAW50070;NP_001182684;NP_859529;Q5NUL3 Hs.661022 2166692;5015881;5022578;5037552;5109281 D1S1423;D1S1425;D8S2279;GDB:335751;RH48297 BMIQ10;DKFZp686F0824;GPR120;GPR129;GT01;MGC119984;O3FAR1;PGR4 G protein-coupled receptor 120;G protein-coupled receptor 129;G protein-coupled receptor PGR4;G-protein coupled receptor 120;G-protein coupled receptor 129;G-protein coupled receptor GT01;G-protein coupled receptor PGR4;G-protein-coupled receptor GT01;OTTHUMP00000032309;OTTHUMP00000032310;free fatty acid receptor 4;omega-3 fatty acid receptor 1 APPROVED protein-coding ENSG00000186188 19061 16422 607514;609044 REVIEWED 737209 FGA fibrinogen alpha chain The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. [provided by RefSeq, Jul 2008] 4 4 q28 155723730 155731347 - 155504280 155511897 - 1582445;704404;1601166;1601167;2312416;5688758;6480464;5688756;5688769;5688762;5688767;5688770;5688761;6484113;6907045;7175292;7240710 12358944;8097946;10910940;7974333;19683480;22353194;22014850;15795544;21887273;19954227;17951283;21685370 14615374;632262;19468208;19429776;19420105;19412134;19190816;19143925;19136375;18974842;18848323;18842294;18772067;18690352;18676163;18500534;18331453;18294856;18278190;18227259;18208536;18202324;18057060;17994314;17982313;17849175;17849064;17701467;17688324;17650077;17630702;17596138;17591786;17568659;17565234;17433418;17414213;17408725;17408411;17303222;17295221;17275949;17264959;17263791;17241179;16940416;16939214;16928957;16894470;16881935;16807684;16706972;16698114;16614319;16525568;16468976;16466010;16362348;16335952;16324093;16263253;16210568;16144795;16086292;15968394;15865460;15831156;15795809;15795540;15735812;15637140;15346842;15311936;15217804;15203218;15166913;14751930;14746139;14667819;6777381;2742826;5084810;7356959;10605720;14718574;10467729;19515723;19507189;12729597;12707238;12665801;12617173;12477932;12430881;12406899;12356313;12193970;12119191;12117709;12050338;12009908;11914657;11900554;11858505;11833854;11776317;11739173;11583334;11562340;11546832;11460506;11460491;11435303;11170397;11159525;11054085;10963790;10956659;10913112;10891444;10602365;10391209;10074346;9867861;9689040;9628725;9485375;9389696;9333233;9276466;8944230;8939956;8675656;8639778;8636415;8589203;8473507;8461606;8400261;8384496;8140431;7298640;6719396;6689067;6688355;6575700;6575389;6500566;6383194;6318767;6266066;6165239;5645286;4250289;4084461;4052020;3618591;3590111;3345340;3088041;2877981;2738154;2367530;2133234;2133223;2102623;2070049;1912564;1680863;12871600;1675636;1634621;1587268;1560020;1457396;1391954;936108;518846;518845;20806111;19913121;20628086;20677013;20709368;21502573;22342352;22642105;10954706;12878203;16005629;16581250;17643375;19350124;19572064;19631771;19696023;19718467;19729601;19750100;19899640;19923982;19928926;19948975;19967163;20019599;20031577;20051841;20059469;20128871;20167083;20217997;20218626;20237496;20416077;20533267;16712791;20829681;21063468;21224475;21190668;19698251;21190511;22836683;23314748;21192254;21248064;21464904;21245743;20360068;21459789;21932842;22552295;22489912;21806028;22795623;23020230;23750785;21258858;21694469;21800001;21891970;23303819;15174051;23056168;19471022;21757653;21980494;22397628;22407772;22713578;22639050;22819533;22705885;23061815 2243 P02671;Q6NSD8 AB087996;ABBA01070158;AC107385;AF361104;AK290559;AL531808;AL579998;AMYH01014633;BC020764;BC070246;BC098280;BC099706;BC099720;BC101935;BC105803;BG565064;BQ064506;BX494953;CB122305;CD608675;CH471056;J00127;J00128;K02272;M26878;M58569;M64982;NG_008832;NM_000508;NM_021871;S82092 AAA17055;AAA17056;AAA52426;AAA52427;AAA52428;AAA52444;AAB47117;AAC97142;AAC97143;AAH20764;AAH70246;AAH98280;AAH99706;AAH99720;AAI01936;AAI05804;AAK31372;AAK31373;BAC55116;BAF83248;EAX04924;EAX04925;EAX04926;EAX04927;EAX04928;NP_000499;NP_068657;P02671 Hs.351593 1646737;1651404;1660662;1667808;1741979;1742913;1743807;1770908;1773635;2136025;2142891;2153942;2170600;2178782;2189767;2217328;5117983;5125489 D4S2882;D4S3155;D4S3286;FGA;FGA_3978;G33492;GDB:187393;GDB:215015;GDB:374018;GDB:633003;RH18276;SHGC-32984;SHGC-34795;SHGC-50337;SHGC-59324;SHGC-59770;STS-H58121;STS-H72060 Fib2;MGC119422;MGC119423;MGC119425 OTTHUMP00000197063;OTTHUMP00000197064;fibrinogen alpha chain;fibrinogen, A alpha polypeptide;fibrinogen, alpha polypeptide APPROVED protein-coding ENSG00000171560 3661 00619 105200;134820;202400 REVIEWED 1351228 FGD1 FYVE, RhoGEF and PH domain containing 1 This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011] X X p11.21 54488612 54539324 - 54471887 54522599 - 1580863;6480464;7240710 8994827;8969170;7954831;18029348;19261807;19141649;17847065;16688726;15743413;15489334;15327482;14560308;12913069;12673651;12477932;11940089;11181572;11093277;10930571;10906777;9268645;8268928;12134158;19322201;22876573;21356349;20607856;11756498;12376548;12787561;17564959;19110080;20082460;21212517;23443263;21739585;23211637;22854039 2245 P98174 ABBA01069620;ABBA01069621;ABBA01069622;ABBA01069623;ABBA01069624;ABBA01069625;ABBA01069626;ABBA01069627;ABBA01069628;ABBA01069629;ABBA01069630;AK226117;AK299635;AMYH01022430;BC034530;CH471154;NG_008054;NM_004463;U11690;Z85987 AAA57004;AAH34530;BAG61561;EAW93179;EAW93180;EAW93181;NP_004454;P98174 Hs.709201 1337572;1643612;1661803;1677030;1681668;1702526;1739795;2108093;2183592 DXS1044;DXS7573E;FGD1;FGD1_8347;G35013;RH75708;RH98842;SGC30464;SHGC-24021 AAS;FGDY;MRXS16;ZFYVE3 FYVE, RhoGEF and PH domain-containing protein 1;OTTHUMP00000023372;faciogenital dysplasia 1 protein;rho/Rac GEF;rho/Rac guanine nucleotide exchange factor FGD1;zinc finger FYVE domain-containing protein 3 APPROVED protein-coding ENSG00000102302 3663 02373 300546;305400 REVIEWED 732078 FGD4 FYVE, RhoGEF and PH domain containing 4 This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. [provided by RefSeq, Oct 2008] 12 12 p11.21 32546361 32684940 + 32655041 32798984 + 1580863;6480464;7240710 19332693;19221294;17564972;17564959;22734899;15744041;15133042;14702039;12477932;11527409;11429692;9668039;11756498;12376548;12787561;19494521;20379614;18029348;20301641;22295116;22843789;22589722 121512 B7Z493;E9PJX4;E9PNX0;E9PQT1;F8VVF1;F8VWL3;F8W1R0;G3XA97;H0YDQ0;J3KSS3;Q96M96 ABBA01031709;ABBA01031710;ABBA01031711;ABBA01031712;AC084824;AC090440;AC090677;AK057294;AK091689;AK124654;AK297025;AK303334;AL713762;AL832064;AMYH01004371;AMYH01004372;AMYH01004373;AY367054;BC039708;BC045552;BC063403;BC096746;CH471116;DB446722;NG_008626;NM_139241 AAH45552;AAQ72372;BAB71413;BAH12479;BAH13945;CAD28532;EAW88528;EAW88529;EAW88530;NP_640334;Q96M96 Hs.117835 1335567;1338078;1340523;1657394;1724341;1733606;1757257;1769151;2147955;2218534;5015961;5022578 D12S1648;D12S1661;D12S345;D12S933;D15S1477;D1S1423;FGD4__4996;RH119093;RH44585;RH44796;SGC34888;SHGC-144676 CMT4H;DKFZp313E1818;DKFZp434K1572;FLJ34370;FLJ42663;FRABP;MGC57222;ZFYVE6 FGD1 family, member 4;FGD1-related F-actin-binding protein;FYVE, RhoGEF and PH domain-containing protein 4;OTTHUMP00000174413;OTTHUMP00000174414;OTTHUMP00000233837;OTTHUMP00000233838;OTTHUMP00000241155;OTTHUMP00000241157;actin filament-binding protein frabin;actin-filament binding protein frabin;zinc finger FYVE domain-containing protein 6 APPROVED protein-coding ENSG00000139132 19125 16891 609311;611104 REVIEWED 5687428 FGD5-AS1 FGD5 antisense RNA 1 3 14984286 14989948 - 12477932;14702039;16344560 100505641 ABBA01025147;ABBA01025148;ABBA01025149;AC090937;AK055924;AK096279;AMYH01012997;BC008609;BC014104;BC033386;BC039246;BC042881;BC056913;BC063441;BC092452;DA123583;DA836235;DA993974;NR_046251;NR_046252;NR_046253;NR_046254;NR_046255 Hs.517821 1735116;1735250;2150205;5109281 D1S1425;D3S2789E;D3S2913E;SHGC-76736 FLJ31362;FLJ38960 APPROVED miscrna ENSG00000225733 40410 VALIDATED 734251 FGB fibrinogen beta chain The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Jul 2008] 4 4 q28 155703596 155711688 + 155484132 155493915 + 1580381;1580382;1580383;1580384;1580385;737709;1331525;1580863;2312416;5688760;6480464;5688770;5688769;6484113;6907045;7175292;7175505;7175506;7240710 9437197;8565160;9514419;11054085;9241743;12393540;15118671;7974333;18278190;19954227;22014850;21685370;19352213;17469143 5084810;7356959;10605720;14718574;6688356;19593947;19560472;19559392;19508823;19479237;19431272;19420351;19420105;19409601;19404555;19395327;19332210;19272152;6777381;2742826;19264644;19238444;19229055;19227305;19190816;19143925;19136375;19131662;19072566;19056482;18982866;18977990;18974842;18936436;18930220;18927546;18853456;18848323;18842294;18841297;18836720;18818200;18803625;18772067;18726528;18685811;18683729;18513389;18511872;18503143;18434720;18334738;18331453;18284606;18253477;18202324;18188987;18173921;18057060;18029348;18000621;17994314;17951283;17925485;17849064;17688324;17637253;17591786;17582472;17497226;17414213;17264952;17263791;17230042;17160939;17126309;17116333;17115186;17111197;17003923;16953282;16940416;16938111;16928957;16899909;16776623;16767673;16750002;16706972;16697386;16635210;16614319;16611940;16604498;16601848;16567932;16525569;16525568;16489740;16466010;16443328;16420563;16409729;16353042;16335952;16324093;16263699;16215953;16195396;16157382;16144795;16086292;16080811;16049588;15983960;15968394;15939070;15857159;15842357;15795540;15795538;15793786;15737987;15735812;15735811;15709716;15671034;15631828;15608011;15583729;15575509;15489334;15346842;15300640;15217804;15213870;15192836;15170397;15104216;15091001;15076187;14963283;14746139;14706682;14691567;14669221;14652632;14629469;14629463;14618197;12899665;12893758;12871600;12747593;12716802;12710752;12665801;12637691;12624729;12617173;12616980;12615788;12578626;12518110;12514663;12511408;12477932;12406024;12356313;12161363;12151156;12141403;12122980;12082592;12082590;12048138;11940334;11877019;11858186;11836675;11833854;11798781;11728146;11714857;11588042;11546832;11468164;11460528;11460506;11296154;11293402;11027931;10980194;10766195;10666208;10467729;10391209;10074346;9787167;9628725;9333233;9224210;9028318;8979138;8910396;8889549;8666148;8384496;8148485;7642629;7592883;7583541;6575700;6575689;6575389;6383194;6165239;3194892;3156856;3029722;2572363;2322576;2102623;2018836;1680863;1634610;1565641;936108;891553;420779;156564;15723073;22293628;21098282;19913121;20533267;20536507;20628086;20637145;20673868;20709368;20873219;21122273;12878203;16005629;16581250;17643375;19578796;19682239;19750100;19811441;19860767;19892918;19899640;19906129;19923980;19948975;19954614;19956635;19996109;20031576;20031577;20036902;20051843;20059469;20064497;20075509;20078877;20082208;20128871;20135074;20162731;20167083;20237496;20376805;20425806;20452482;20535834;20538554;9351824;20079495;21034162;21054877;22386478;20978265;20619835;22836683;21160146;22552295;22489912;21420681;23650004;22575419;21296900;21316837;20360068;21258858;21713329;21725578;21800007;21900206;22053176;21241403;21757653;22273812;22642105;21499712;21988832;23056168;23129316;23750785;22889670;23144326;23061815 2244 D6REL8;F8W6P4;P02675 ABBA01070157;AC107385;AF388026;AI174804;AK303788;AK309592;AK311683;AK312972;AMYH01014633;BC007030;BC036007;BC060040;BC070245;BC106760;BC107766;CH471056;J00129;J00131;J00132;J00133;M64983;NG_008833;NM_001184741;NM_005141;T74412;X05018 AAA18024;AAA52429;AAA98115;AAA98116;AAH07030;AAI06761;AAI07767;AAK62470;BAG35810;BAG64745;CAA28674;EAX04930;EAX04931;EAX04932;EAX04933;EAX04934;EAX04935;EAX04936;EAX04937;EAX04938;EAX04939;NP_001171670;NP_005132;P02675 Hs.300774 1658482;1672236;1694998;1712140;1743809;1743811;1745739;1853739;1853741;1855422;2120988;2139940;2148766;2156161;2181066 A005L26;D4S2883;G20311;G33709;G44712;G54120;GDB:374037;GDB:374038;GDB:633014;RH11045;RH36633;SHGC-33093;SHGC-59327;SHGC-59513;SHGC-67362 MGC104327;MGC120405 OTTHUMP00000197066;fibrinogen beta chain;fibrinogen, B beta polypeptide;fibrinogen, beta polypeptide APPROVED protein-coding 3662 00620 134830;202400 REVIEWED 7047808 FGD5P1 FYVE, RhoGEF and PH domain containing 5 pseudogene 1 3 p25.1 13974553 13978444 + 14702039 100132526 ABBA01025163;AC069462;AK056482;AMYH01012996;NR_036481 Hs.637770 pseudo ENSG00000250439 44498 VALIDATED 1320399 FGD2 FYVE, RhoGEF and PH domain containing 2 6 6 6 p21.2 38528396 38551886 + 37081401 37104822 + 36973423 36996845 + 1580863;6480464;7240710 18838382;17564959;15489334;14702039;14574404;12477932;11214971;10458911;11756498;12376548;12787561;16196087 221472 F8WEZ2;H7BY95;Q7Z6J4 ABBA01038269;ABBA01038270;AK024456;AK092732;AK097230;AK097981;AK098248;AK131079;AK290419;AK300964;AK301156;AL160264;AMYH01016277;AMYH01016278;BC023645;BC053655;BC062363;BX648164;CH471081;NM_173558 AAH23645;AAH53655;ABM84538;ABM85854;BAB15746;BAC04982;BAC85129;BAF83108;BAG62589;BAG62746;EAX03932;EAX03933;NP_775829;Q7Z6J4 Hs.509664 1731369;5020948;5022651;5109281;7184802 D11S2921;D18S21;D1S1425;G35510 FLJ00048;FLJ40929;MGC71330;ZFYVE4 FLJ00276 protein;FYVE, RhoGEF and PH domain-containing protein 2;OTTHUMP00000016320;zinc finger FYVE domain-containing protein 4 protein-coding ENSG00000146192 3664 05478 605091;607398 VALIDATED 1313708 FGD5 FYVE, RhoGEF and PH domain containing 5 3 3 3 p25.1 14798707 14914334 + 14835810 14950899 + 14860469 14976072 + 6480464 15489334;14702039;12477932;10737800;22328776;22922960;22661514 152273 B7ZM68;H7C0G2;Q6ZNL6 ABBA01025150;ABBA01025151;AC087591;AC090937;AK096856;AK097276;AK123054;AK131078;AMYH01012997;BC035364;BC040614;BC132814;BC132816;BC144300;BX538312;BX640820;CH471055;NM_152536 AAH35364;AAI32815;AAI32817;AAI44301;ADZ15427;BAC04878;BAC04989;BAC85128;BAG53865;CAD98090;CAE45896;EAW64208;EAW64209;NP_689749;Q6ZNL6 Hs.412406 1657584;1683545;1708880;1715183;2160158;2169485 D3S2881E;D3S3380;G19158;RH119842;RH24948;SHGC-83942 ZFYVE23 FYVE, RhoGEF and PH domain-containing protein 5;OTTHUMP00000208226;zinc finger FYVE domain-containing protein 23 protein-coding ENSG00000154783 19117 13322 614788 VALIDATED 6481336 FGF12-AS1 FGF12 antisense RNA 1 100873986 AC073363;AC128710 APPROVED miscrna 40234 6481335 FGF12-AS2 FGF12 antisense RNA 2 100873987 AC026671 APPROVED miscrna 40235 6481338 FGF12-AS3 FGF12 antisense RNA 3 100873988 AC026671 APPROVED miscrna 40236 1323332 FGD3 FYVE, RhoGEF and PH domain containing 3 9 9 9 66151416 66240262 + 94749422 94838339 + 95709601 95798518 + 6480464 17564959;16344560;15489334;15164053;14702039;12477932;11214971;10721717;8125298;11756498;12376548;12787561;20379614;18363964 89846 B4DXH4;F8W7P2;Q5JSP0 ABBA01018599;ABBA01018600;AK000004;AK225843;AK292676;AK301974;AL389924;AL451065;AMYH01021510;AMYH01021511;AY211386;BC032429;BC111054;BF509875;BX647829;CH471089;DA493667;DB161711;NM_001083536;NM_033086 AAH32429;AAI11055;AAP20645;ACE86816;ACE87503;BAA92229;BAF85365;BAG63386;EAW62840;EAW62841;EAW62842;EAW62843;EAW62844;EAW62845;EAW62846;EAW62847;NP_001077005;NP_149077;Q5JSP0 Hs.411081 1728759;1728771;1728883;1776908 G54479;G54540;G54541;STS-R80896 FLJ00004;MGC117260;ZFYVE5 FYVE, RhoGEF and PH domain-containing protein 3;OTTHUMP00000022784;OTTHUMP00000022785;faciogenital dysplasia 3;zinc finger FYVE domain-containing protein 5 protein-coding ENSG00000127084 16027 10957 VALIDATED 734330 FGF10 fibroblast growth factor 10 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008] 5 5 p13-p12 44340854 44424541 - 44305097 44388784 - 1580863;737805;737804;737803;2314151;2292665;6480464;6907045;7240710 11702954;10984614;9916808;19464577;18421211 11286634;11923311;12591959;17133345;9287324;8622701;11294897;16597617;19102732;18773495;18594526;18587586;18454440;18329286;18081024;17944804;17682060;17609292;17496316;17471512;17360555;17264867;17213838;17071719;16630169;16597614;16501574;16323074;15806171;15690149;15679583;15654336;15632068;15489334;15208658;14975937;14726452;12818887;12804770;12477932;9582367;10951499;9927546;20634891;10541313;10579907;11896977;15199049;16086254;17188682;17449030;17500053;17959718;17969154;18437684;18990706;19115389;19152659;19224135;19727229;20036575;20083228;20424473;20544801;9740653;10629055;21048031;22877940;19915940;20705941;21310815;22965740;21742743;23328208;22303449;21696361;21743467;23169889;23599340 2255 C7FDY0;D6RG33;O15520 AB002097;ABBA01024268;ABBA01024269;AC093289;AC093537;AF411527;AF508782;AK315314;AMYH01015061;AY604046;BC069561;BC105021;BC105023;CH471119;CQ897310;CR541665;CR541688;GQ351295;NG_011446;NM_004465;U67918 AAB61991;AAH69561;AAI05022;AAI05024;AAL05875;AAM46926;AAS99733;ACU00617;ADR82765;BAA22331;CAG46466;CAG46489;CAH69769;EAW56075;NP_004456;O15520 Hs.664499 1710052;1748915;1773484;1785216 G16001;SHGC-100998;SHGC-110572;SHGC-82302 FGF-10;OTTHUMP00000161804;fibroblast growth factor 10;keratinocyte growth factor 2;produced by fibroblasts of urinary bladder lamina propria APPROVED protein-coding 3666 03665 149730;180920;602115 REVIEWED 1319292 FGD6 FYVE, RhoGEF and PH domain containing 6 12 12 12 q22 95141807 95282177 - 93994656 94135371 - 95470525 95611240 - 6480464 15761153;15489334;15324660;14702039;12477932;10718198;21139048 55785 F8VQX5;F8VWT6;F8VY01;H0YI21;Q6ZV73 AB037783;ABBA01053340;ABBA01053341;ABBA01053342;ABBA01053343;ABBA01053344;AC011598;AC126615;AC127165;AK002045;AK026881;AK124904;AK128492;AMYH01004667;BC013319;BC125225;BC125226;BX538322;CH471054;NM_018351 AAH13319;AAI25226;AAI25227;AAI67803;BAA92052;BAA92600;BAC85990;BAC87464;CAD98096;EAW97521;NP_060821;Q6ZV73 Hs.506381 1337753;1676816;1684722;1713629;1782874;2150042 D11S1285;D12S101;RH120695;RH93687;RH93936;SHGC-152105 ZFYVE24 FYVE, RhoGEF and PH domain-containing protein 6;OTTHUMP00000243028;OTTHUMP00000243031;OTTHUMP00000243033;zinc finger FYVE domain-containing protein 24 protein-coding ENSG00000180263 21740 16892 613520 VALIDATED 6481291 FGF14-AS1 FGF14 antisense RNA 1 100874081 AI217925;AL356263 Hs.569296 APPROVED miscrna 40237 6892976 FGF13-AS1 FGF13 antisense RNA 1 X q26.3 137794269 137798767 + 12477932 100129662 ABBA01065970;AMYH01023057;BC023610;NR_038405;Z82193 Hs.571747 1748075 G66662 miscrna ENSG00000226031 44264 VALIDATED 734211 FGF11 fibroblast growth factor 11 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7368577 7374139 + 7283413 7288975 + 7342689 7348251 + 1580863;6480464;6907045 8790420;15489334;15199049;14702039;12477932;10662545;9070933 2256 I3L4N4;K7ES85;Q92914 AB209390;ABBA01054866;AC113189;AK293131;AK308477;AK308812;AK311269;AMYH01008082;AY049782;AY094623;BC032502;BC037421;BC108265;CH471108;NM_004112;U66199;Z70275 AAB18915;AAH32502;AAI08266;AAL15439;AAM11871;BAD92627;BAH11459;CAA94239;EAW90187;NP_004103;Q92914 Hs.655193 1677983;1772735;1791139;1797528;2120022;2181755 D17S1968;FGF11_2203;Fgf11;G30483;RH78385;STS-W57641 FHF3;FLJ16061;MGC102953;MGC45269 FGF-11;FHF-3;OTTHUMP00000135275;fibroblast growth factor 11;fibroblast growth factor homologous factor 3 APPROVED protein-coding ENSG00000161958 3667 03304 601514 REVIEWED 735698 FGF1 fibroblast growth factor 1 (acidic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009] 5 5 q31 141953306 142045812 - 141971743 142077635 - 1580863;2290286;2290287;2290291;2290288;2298518;2298516;5509875;5509876;5509878;5509881;2317692;5509877;5509879;5509880;6480464;6484113;6907045 17242701;16139411;11908679;14613644;7690426;8685603;21663406;8662542;20079650;16635575;18482974;20488178;19497570;17893707 1693186;10618369;14732692;17133345;10903182;3778488;1697263;8622701;9139660;11294897;16597617;19453261;19249349;18819464;18762812;18669637;18505824;18495870;18441324;18308335;18298822;18202770;17963255;17909102;17852407;17610236;17570396;17567994;17538174;17204151;17134911;16886895;16807244;16766579;16495214;16411766;16392031;16355415;16344560;16316338;16219767;16091423;15882952;15870071;15835896;15695515;15632285;15561939;15489334;15382229;15358178;15314170;15199049;14673954;14627732;12871334;12788899;12750963;12484774;12477932;12440521;12417591;12145206;12118009;12057924;12008951;11964394;11847269;11509569;11432880;11069186;11032250;10830168;10736564;10574949;10510314;10373120;10336501;10206481;9806903;9719643;9712836;9655399;9630568;9501919;8976296;8950275;8679713;8652550;7681435;7680120;7678925;7542239;7533902;7521397;7504343;3964259;3732516;3527167;3523756;2590193;2474753;2444975;2427112;2393407;1885605;1720622;1717925;1702556;1372643;11245213;21462296;8576175;11030354;20634891;20672350;20673868;21356388;20863990;21448824;20706664;19229075;10579907;12746488;12815063;16263090;18187602;19112917;19574212;19683004;19835837;19845895;19923735;20027339;20036812;20072657;20189986;20298684;20424473;20452482;20504870;8663044;21048031;21190667;21555518;21348951;18400376;20889570;21239704;21894939;21990352;19247306;22057274;21139048;21963769;11731227;23457216;21806346;22321063;23047594;23133616;23426545 2246 A8K147;B5MCF4;C9JDC5;C9JUP6;P05230;Q16089 ABBA01026368;ABBA01026369;ABBA01026370;ABBA01026371;ABBA01026372;ABBA01026373;AC005370;AC005592;AI283639;AK289762;AK312301;AMYH01015667;AMYH01015668;AY601819;BC032697;BG706412;CH471062;CQ848834;CQ855983;DA111414;DA126618;DA189432;DA228737;DA326831;DA388578;DA389088;DA575048;DA649213;DA660034;DB092576;DB220987;DC344309;DQ655917;L01485;L01487;M13361;M23087;M30492;M60515;M60516;M74028;NM_000800;NM_001144892;NM_001144934;NM_001144935;NM_001257205;NM_001257206;NM_001257207;NM_001257208;NM_001257209;NM_001257210;NM_001257211;NM_001257212;NM_033136;NM_033137;S67291;S67292;S67294;X51943;X59065;X65778;X65779 AAA51672;AAA51673;AAA52425;AAA52446;AAA52447;AAA52638;AAA79245;AAB29057;AAB29058;AAB29059;AAH32697;AAS99352;BAF82451;BAG35227;CAA36206;CAA41788;CAA46661;CAA46662;CAH18501;CAH23443;EAW61881;EAW61882;EAW61884;EAW61885;NP_000791;NP_001138364;NP_001138406;NP_001138407;NP_001244134;NP_001244135;NP_001244136;NP_001244137;NP_001244138;NP_001244139;NP_001244140;NP_001244141;NP_149127;NP_149128;P05230 Hs.483635 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2204200;2204202;2204204;2204206;2204208;2204210;2204212;2204214;2204216;2204218;2204220;2204222;2204224;2204226;2204228;2204230;2204232;2204234;2204236;2204238;2204240;2204242;2204244;2204246;2204248;2204250;2204252;2204254;2204256;2204258;2204260;2204262;2204264;2204266;2204268;2204270;2204272;2204274;2204276;5092698;5117064;5119863 5q31-33_20;5q31-33_27;A001U34;A005Q30;D5S1613E;D5S1840;D5S1863;D5S2406;D5S512;ECD00156;ECD00231;ECD00464;ECD00792;ECD00968;ECD01196;ECD01340;ECD01540;ECD01603;ECD01870;ECD02173;ECD02800;ECD04031;ECD05297;ECD05404;ECD05437;ECD05948;ECD05981;ECD06318;ECD06581;ECD06666;ECD06797;ECD07169;ECD07804;ECD08629;ECD08895;ECD09206;ECD09293;ECD09475;ECD09675;ECD09866;ECD10145;ECD10146;ECD10219;ECD10323;ECD10581;ECD10774;ECD10974;ECD11151;ECD11692;ECD11721;ECD11760;ECD12215;ECD12216;ECD12426;ECD12466;ECD12818;ECD12981;ECD13159;ECD13201;ECD13322;ECD13357;ECD13471;ECD13643;ECD13644;ECD13680;ECD13716;ECD13754;ECD13917;ECD13955;ECD14113;ECD14254;ECD14290;ECD14614;ECD14829;ECD15371;ECD15919;ECD16112;ECD17381;ECD17554;ECD17555;ECD17784;ECD17840;ECD17841;ECD17890;ECD18060;ECD18131;ECD18156;ECD18263;ECD18264;ECD18655;ECD18735;ECD19034;ECD19660;ECD19851;ECD19908;ECD20088;ECD20501;ECD20565;ECD20869;ECD20958;ECD20988;ECD21084;ECD21295;ECD21327;ECD21494;ECD21647;ECD21648;ECD21750;ECD21891;ECD22015;ECD22237;ECD22414;ECD22542;ECD22763;ECD23016;ECD23093;ECD23540;ECD24051;G19666;G32272;GDB:185236;GDB:185464;GDB:210943;GDB:294197;GDB:433891;REN23128;REN23129;REN23130;REN23131;REN23132;REN23133;REN23134;REN23135;REN23136;REN23137;REN23138;REN23139;REN23140;REN23141;REN23142;REN23143;REN23144;REN23145;REN23146;REN23147;REN23148;REN23149;REN23150;REN23151;REN23152;REN23153;REN23154;REN23155;REN23156;REN23157;REN23158;REN23159;REN23160;REN23161;REN23162;REN23163;REN23164;REN23165;REN23166;REN23167;REN23168;REN23169;REN23170;REN23171;REN23172;REN23173;REN23174;REN23175;REN23176;REN23177;REN23178;REN23179;REN23180;REN23181;REN23182;REN23183;REN23184;REN23185;REN23186;REN23187;REN23188;REN23189;REN23190;REN23191;REN23192;REN23193;REN23194;REN23195;REN23196;REN23197;REN23198;REN23199;REN23200;REN23201;REN23202;REN23203;REN23204;REN23205;REN23206;REN23207;REN23208;REN23209;REN23210;REN23211;REN23212;REN23213;REN23214;REN23215;REN23216;REN23217;REN23218;REN23219;REN23220;REN23221;REN23222;REN23223;REN23224;REN23225;REN23226;REN23227;REN23228;REN23229;REN23230;REN23231;REN23232;REN23233;REN23234;REN23235;REN23236;REN23237;REN23238;REN23239;REN23240;REN23241;REN23242;REN23243;REN23244;REN23245;REN23246;REN23247;REN23248;REN23249;REN23250;REN23251;REN23252;REN23253;REN23254;REN23255;REN23256;REN23257;REN23258;REN23259;REN23260;REN23261;REN23262;REN23263;REN23264;REN23265;REN23266;REN23267;REN23268;REN23269;REN23270;REN23271;REN23272;REN23273;REN23274;REN23275;REN23276;REN23277;REN23278;REN23279;REN23280;REN23281;REN23282;REN23283;REN23284;REN23285;REN23286;REN23287;REN23288;REN23289;REN23290;REN23291;REN23292;REN23293;REN23294;REN23295;REN23296;REN23297;REN23298;REN23299;REN23300;REN23301;REN23302;REN23303;REN23304;REN23305;REN23306;REN23307;REN23308;REN23309;REN23310;REN23311;REN23312;REN23313;REN23314;REN23315;REN23316;REN23317;REN23318;REN23319;REN23320;REN23321;REN23322;REN23323;REN23324;REN23325;REN23326;REN23327;REN23328;REN23329;REN23330;REN23331;REN23332;REN23333;REN23334;REN23335;REN23336;REN23337;REN23338;REN23339;REN23340;REN23341;REN23342;REN23343;REN23344;REN23345;REN23346;REN23347;REN23348;REN23349;REN23350;REN23351;REN23352;REN23353;REN23354;REN23355;REN23356;REN23357;REN23358;REN23359;REN23360;REN23361;REN23362;REN23363;REN23364;REN23365;REN23366;REN23367;REN23368;REN23369;REN23370;REN23371;REN23372;REN23373;REN23374;REN23375;REN23376;REN23377;REN23378;REN23379;REN23380;REN23381;REN23382;REN23383;REN23384;REN23385;REN23386;REN23387;REN23388;REN23389;REN23390;REN23391;REN23392;REN23393;REN23394;REN23395;REN23396;REN23397;REN23398;REN23399;REN23400;REN23401;REN23402;REN23403;REN23404;REN23405;REN23406;REN23407;REN23408;REN23409;REN23410;REN23411;REN23412;REN23413;REN23414;REN23415;REN23416;REN23417;REN23418;REN23419;REN23420;REN23421;REN23422;REN23423;REN23424;REN23425;REN23426;REN23427;REN23428;REN23429;REN23430;REN23431;REN23432;REN23433;REN23434;REN23435;REN23436;REN23437;REN23438;REN23439;REN23440;REN23441;REN23442;REN23443;REN23444;REN23445;REN23446;REN23447;REN23448;REN23449;REN23450;REN23451;REN23452;REN23453;REN23454;REN23455;REN23456;REN23457;REN23458;REN23459;REN23460;REN23461;REN23462;REN23463;REN23464;REN23465;REN23466;REN23467;REN23468;REN23469;REN23470;REN23471;REN23472;REN23473;REN23474;REN23475;REN23476;REN23477;REN23478;REN23479;REN23480;REN23481;REN23482;REN23483;REN23484;REN23485;REN23486;REN23487;REN23488;REN23489;REN23490;REN23491;REN23492;REN23493;REN23494;REN23495;REN23496;REN23497;REN23498;REN23499;REN23500;REN23501;REN23502;REN23503;REN23504;REN23505;REN23506;REN23507;REN23508;REN23509;REN23510;REN23511;REN23512;REN23513;REN23514;REN23515;REN23516;REN23517;REN23518;REN23519;REN23520;REN23521;REN23522;REN23523;REN23524;REN23525;REN23526;REN23527;REN23528;REN23529;REN23530;REN23531;REN23532;REN23533;REN23534;REN23535;REN23536;REN23537;REN23538;REN23539;REN23540;REN23541;REN23542;REN23543;REN23544;REN23545;REN23546;REN23547;REN23548;REN23549;REN23550;REN23551;REN23552;REN23553;REN23554;REN23555;REN23556;REN23557;REN23558;REN23559;REN23560;REN23561;REN23562;REN23563;REN23564;REN23565;REN23566;REN23567;REN23568;REN23569;REN23570;REN23571;REN23572;REN23573;REN23574;REN23575;REN23576;REN23577;REN23578;REN23579;REN23580;REN23581;SGC31319;SHGC-12659;UniSTS:47952;fb49e11.x1;stSG622847;stSG622848;stSG622849;stSG622850;stSG622851;stSG622852;stSG622853;stSG622854;stSG622855;stSG622856;stSG622857;stSG622858;stSG622859;stSG622860;stSG622861;stSG622862;stSG622863;stSG622864;stSG622865;stSG622866;stSG622867;stSG622868;stSG622869;stSG622870;stSG622871;stSG622872;stSG622873;stSG622874;stSG622875;stSG622876;stSG622877;stSG622878;stSG622879;stSG622881;stSG622882;stSG622883;stSG622885;stSG622886;stSG622888;stSG622889;stSG622890;stSG622891;stSG622892;stSG622893;stSG622894;stSG622895;stSG622896;stSG622897;stSG622898;stSG622899;stSG622900;stSG622901;stSG622902;stSG622903;stSG622904;stSG622905;stSG622906;stSG622907;stSG622908;stSG622910;stSG622911;stSG622912;stSG622913;stSG622914;stSG622915;stSG622916;stSG622917;stSG622918;stSG622919;stSG622920;stSG622921;stSG622922;stSG622923;stSG622925;stSG622926;stSG622927;stSG622928;stSG622929;stSG622931;stSG622932;stSG622933;stSG622934;stSG622935;stSG622936 AFGF;ECGF;ECGF-beta;ECGFA;ECGFB;FGF-1;FGF-alpha;FGFA;GLIO703;HBGF-1;HBGF1 HBGF-1;OTTHUMP00000066027;OTTHUMP00000066028;OTTHUMP00000066030;OTTHUMP00000066031;OTTHUMP00000174675;OTTHUMP00000199418;OTTHUMP00000199419;acidic fibroblast growth factor;beta-endothelial cell growth factor;endothelial cell growth factor;endothelial cell growth factor, alpha;endothelial cell growth factor, beta;fibroblast growth factor 1;heparin-binding growth factor 1 APPROVED protein-coding ENSG00000113578 3665 00567 131220 REVIEWED 733065 FGF16 fibroblast growth factor 16 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The rat homolog is predominantly expressed in embryonic brown adipose tissue and has significant mitogenic activity, which suggests a role in proliferation of embryonic brown adipose tissue. [provided by RefSeq, Jul 2008] X X X q13 76943778 76952520 + 76596304 76598669 + 76709645 76712013 + 70737;1580863;6480464;6907045 9473496 17133345;1697263;11294897;16597617;16756958;15199049;11474196;11276432;20097674;10579907;21832049 8823 H0Y5L6;O43320 AB009391;ABBA01029654;ABBA01029655;AC243316;AMYH01022628;BX682239;CH471104;NM_003868 AAI48640;AAI53197;BAA24956;EAW98617;NP_003859;O43320 Hs.666364 5024541 D1S3688 FGF-16 OTTHUMP00000015342;fibroblast growth factor 16 APPROVED protein-coding 3672 04764 300827 REVIEWED 5488127 FGF14-IT1 FGF14 intronic transcript 1 (non-protein coding) 13 13 q33.1 101744110 101844979 - 102944670 103046869 - 14702039;23509962 283480 ABBA01027072;ABBA01027073;ABBA01027074;ABBA01027075;AK093430;AK125748;AL356263;AL356266;AMYH01005341;CH471085;NG_008317;NR_036486 EAX09057 Hs.662212 1334513;1688172;2136337;2190191;7186954 99-79408;D13S174;D13S888;RH91226 miscrna 42774 VALIDATED 1348702 FGF12 fibroblast growth factor 12 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 3 3 q28 193342413 193928066 - 191857182 192445388 - 6480464;6907045 7829101;8790420;10049777;19043545;18525161;18519826;18289114;16344560;15489334;15199049;14702039;12815063;12477932;12401812;11378392;9345906;12244047;20634891;20083228;20379614;21139019;21518765;21832049;19953087;22552777;23679094;23377640 2257 C9JEN8;C9JIN3;C9JUK8;H7C1L8;P61328 ABBA01058302;ABBA01058303;ABBA01058304;ABBA01058305;ABBA01058306;AC026671;AC073363;AC079623;AC079847;AC128710;AJ709079;AK125307;AK312513;AK313671;AMYH01013763;AMYH01013764;AMYH01013765;BC022524;BI494808;CH471052;CS263102;DA457811;DA521146;NM_004113;NM_021032;U66197;U76381;Z70276 AAB18786;AAB18913;AAH22524;ABM84701;ABM92221;BAG35414;BAG36423;BAG54181;CAA94240;CAJ77469;EAW78084;EAW78085;EAW78086;NP_004104;NP_066360;P61328 Hs.390250 1336458;1338378;1340974;1651171;1653804;1680148;1688422;1690598;1706826;1715457;1719961;1735220;1746023;1760099;1784848;1797530;2112602;2120090;2135408;2138332;2150079;2178948 D3S2418;D3S2850E;D3S2888E;D3S3024;D3S3557;D3S3663;D3S4363;FGF12_2502;RH120893;RH123959;RH125623;RH16209;RH8137;RH91793;RH98771;SGC36939;SHGC-107740;SHGC-155771;SHGC-56743;SHGC-77655;SHGC-77662;SHGC-80891 FGF12B;FHF1 FGF-12;FHF-1;OTTHUMP00000209260;OTTHUMP00000209261;OTTHUMP00000209262;OTTHUMP00000209263;OTTHUMP00000209265;OTTHUMP00000209266;fibroblast growth factor 12;fibroblast growth factor 12B;fibroblast growth factor FGF-12b;fibroblast growth factor homologous factor 1;myocyte-activating factor APPROVED protein-coding 3668 03303 601513 REVIEWED 733500 FGF13 fibroblast growth factor 13 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked mental retardation mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008] X X q26.3 137541401 137649181 - 137713734 138287185 - 6480464;6907045 10071193;8790420;12244047;15489334;15282281;15199049;12496262;12477932;11847221;10644718;9914447;9847253;9751161;18482256;21163940;23603273;23006423 2258 A8K1P5;B1AJW0;B1AK17;B1B1H9;Q92913 ABBA01065961;ABBA01065962;ABBA01065963;ABBA01065964;ABBA01065965;ABBA01065966;ABBA01065967;ABBA01065968;ABBA01065969;ABBA01065970;ABBA01065971;ABBA01065972;ABBA01065973;ABBA01065974;ABBA01065975;ABBA01065976;ABBA01065977;ABBA01065978;ABBA01065979;ABBA01065980;ABBA01065981;ABBA01065982;ABBA01065983;ABBA01065984;ABBA01065985;ABBA01065986;ABBA01065987;ABBA01065988;ABBA01065989;ABBA01065990;ABBA01065991;ABBA01065992;ABBA01065993;ABBA01065994;ABBA01065995;ABBA01065996;ABBA01065997;ABBA01065998;ABBA01065999;ABBA01066000;ABBA01066001;ABBA01066002;ABBA01066003;ABBA01066004;ABBA01066005;ABBA01066006;ABBA01066007;AF100143;AF100144;AF108756;AF199612;AF199613;AK289960;AK297545;AK303685;AK316170;AL023798;AL023800;AL031386;AL034398;AL034416;AMYH01023056;AMYH01023057;AY672645;BC012347;BC034340;BG179556;BQ068644;BU195176;CH471150;CS173331;DC362132;NM_001139498;NM_001139500;NM_001139501;NM_001139502;NM_004114;NM_033642;U66198;Z81007;Z82193;Z82204;Z83313 AAB18914;AAD16400;AAD16401;AAD21577;AAF31399;AAF31400;AAH12347;AAH34340;AAT70720;ABM83461;ABM86672;BAF82649;BAH12613;BAH14016;BAH14541;CAJ33717;EAW88435;EAW88436;EAW88437;EAW88438;EAW88439;EAW88440;NP_001132970;NP_001132972;NP_001132973;NP_001132974;NP_004105;NP_378668;Q92913 Hs.6540 1643624;1644591;1654422;1691686;1694312;1694384;1694390;1701872;1702248;1702484;1702948;1748075;1748125;1748187;1787986;1795830;1858341;2124711;2130243;2133832;2135042;2149226;2170350;2172423;2187594;5094450;5094464 AL021594;AL031234;AL031248;AL032577;DXS730;DXS7444E;DXS7530;DXS7768;DXS8213;DXS8363;FGF13_30.2;G42851;G42887;G42890;G54805;G54813;G66658;G66662;G66751;G67207;GDB:313863;L77817;STS-Z40861;WI-11452;WI-19784;sWXD1492;sWXD1493 FGF-13;FGF2;FHF-2;FHF2 FGF-13;OTTHUMP00000024143;OTTHUMP00000024144;OTTHUMP00000024145;OTTHUMP00000024147;fibroblast growth factor 13;fibroblast growth factor homologous factor 2 APPROVED protein-coding ENSG00000129682 3670 02090 300070 REVIEWED 1343584 FGF14 fibroblast growth factor 14 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 q34 101173036 101852125 - 102373205 103054124 - 1580863;6480464;6907045;7240710 8790420;17236779;17221845;16211615;16166153;15470364;15365159;15199049;15148151;15057823;12489043;12477932;12364586;12123606;12815063;20379614;23509962;23166209;22579694 2259 Q92915 ABBA01027072;ABBA01027073;ABBA01027074;ABBA01027075;ABBA01027076;ABBA01027077;ABBA01027078;ABBA01027079;ABBA01027080;AL139802;AL159155;AL160153;AL161899;AL356263;AL356266;AL512629;AL591909;AMYH01005338;AMYH01005339;AMYH01005340;AMYH01005341;AY188178;BC100920;BC100921;BC100922;CH471085;NG_008317;NM_004115;NM_175929;U66200 AAB18916;AAI00921;AAI00922;AAI00923;AAO31806;EAX09054;EAX09055;NP_004106;NP_787125;Q92915 Hs.508616 1334513;1342011;1653861;1688172;1707520;1708684;1708686;1723843;1748527;1750831;2111736;2111752;2113402;2119028;2136337;2147385;2159971;2189905;2189909;2189943;2189945;2189947;2189953;2189955;2189957;2190011;2190017;2190019;2190021;2190023;2190189;2190191;2190209;2190211;2191974;5022755;7186954 99-14359;99-15229;99-16321;99-16332;99-16333;99-20977;99-20978;99-20981;99-26126;99-26169;99-26171;99-26172;99-26183;99-79405;99-79408;99-79424;99-79426;D13S1323;D13S1634;D13S1643;D13S174;D13S1765;D13S888;D13S914;FGF14;G17717;RH118657;RH78346;RH91226;SHGC-104441;SHGC-4718;SHGC-60454;SHGC-81483;SHGC-81484;SHGC-84564;stSG609236 FGF-14;FHF-4;FHF4;MGC119129;SCA27 FGF-14;FHF-4;OTTHUMP00000018661;OTTHUMP00000018662;bA397O8.2;fibroblast growth factor 14;fibroblast growth factor homologous factor 4 APPROVED protein-coding 3671 03305 601515;609307 REVIEWED 6896698 FGF14-AS2 FGF14 antisense RNA 2 13 q33.1 103046928 103048055 + 11991713;12477932;8889548 283481 ABBA01027072;AF086059;AF339777;AL356263;AMYH01005341;BC033993;BM674599;BX096285;NG_008317;NR_036487 Hs.646604 1688172;2190191 99-79408;RH91226 miscrna 44368 VALIDATED 731457 FGF20 fibroblast growth factor 20 The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009] 8 8 p22 16894705 16904045 - 16850334 16859674 - 1580863;6480464;6907045 15592430;10913340;16597617;19133659;18568448;18252210;18205889;17515805;15967032;15122513;12477932;11306498;11032730;10629055;11276432;15199049;17213182;19564416;19619121;20379614;20427658;20471450;10579907;22698282;22342445 26281 H0YAT9;Q9NP95 AB030648;AB044277;ABBA01021589;AC025218;AC136305;AMYH01018545;AY696296;BC096720;BC098128;BC098153;BC098339;BC127125;BC137446;BC137447;BC141979;BC141980;CH471080;CQ967762;CS441943;DT220794;NG_015978;NM_019851 AAH96720;AAH98128;AAH98153;AAH98339;AAI37447;AAI37448;AAT85804;BAB03530;BAB03633;CAI38634;CAL68869;EAW63828;NP_062825;Q9NP95 Hs.199905 2219082 FGF20_2882 FGF-20 OTTHUMP00000122436;fibroblast growth factor 20 APPROVED protein-coding 3677 05709 605558 REVIEWED 737083 FGF18 fibroblast growth factor 18 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008] 5 5 q34 170779272 170816781 + 170846667 170884630 + 69834;1580863;704404;6480464;6484113;6907045 9660775 11256614;9742123;17133345;1697263;11294897;16597617;19453261;18978678;17890768;17360555;17128416;16756958;16381901;16019430;15749088;15489336;15489334;15199049;12975309;12477932;11124520;11076863;10751172;10353607;20507176;10629055;16384934;19197348;19727229;19909293;10579907;21048031;21319186 8817 O76093 AB007422;ABBA01044074;ABBA01044075;ABBA01044076;ABBA01044077;ABBA01044078;AC011400;AC093246;AF075292;AF211188;AMYH01015807;AY358811;BC006245;BQ018759;BT019570;BT019571;CH471062;CS008054;FB706733;NG_029158;NM_003862 AAC62240;AAF22977;AAH06245;AAQ89954;AAV38377;AAV38378;ABM83662;ABM86909;BAA31986;CAI53491;CAL38673;CAS03064;EAW61441;EAW61442;NP_003853;O76093 Hs.87191 1726727;1780964;1795832;2159144;5094932 FGF18;FGF18_1325;G62751;RH46294;bac5486T FGF-18;ZFGF5 OTTHUMP00000161023;fibroblast growth factor 18 APPROVED protein-coding ENSG00000156427 3674 04766 603726 REVIEWED 70822 FGF2 fibroblast growth factor 2 (basic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008] 4 4 q26 123967313 124038840 + 123747863 123819390 + 1580863;704404;2315840;2315915;2290290;2290287;2290291;2290288;2290303;2315842;2315844;2315845;2315858;2315860;2315863;2315870;2315875;2315879;2315880;2315885;2315911;2289364;2298517;2298516;2315843;2315866;2315876;2315846;2315912;2315907;2292211;2317762;2317763;2317758;2317759;2317756;2317765;2317760;6480464;6484113;6907045 19474406;15967670;14522896;16139411;11908679;14613644;1718278;19279131;18279437;17997184;17066631;16644707;16008728;15451784;14975211;14585103;12663474;9141532;19197140;18196276;7549793;8685603;19638336;15758817;14706681;17763394;8033826;12533868;9293890;8098714;12717266;12670449;18704599;11478488;11562741 20817637;21224050;18829480;16095497;17133345;18555217;9576942;10903182;9553078;1697263;8622701;9139660;11294897;16597617;10490103;2435575;19617559;19587357;19586755;19478386;19456219;19453261;19386985;19351956;19319189;19318994;19301256;19287993;19245795;19235591;19217457;19196427;19160106;19107653;19100714;19096867;19096229;19086919;19061884;19059221;19056764;18979395;18974971;18930044;11075807;10848592;9712850;18819464;18803285;18802039;18783914;18773427;18698254;18680389;18639416;18592007;18570917;18549879;18519946;18511454;18481005;18452581;18438927;18420995;18419755;18364383;18347025;18332228;18298475;18281281;18258238;18253936;18187129;18179408;18171671;18164704;18164591;18094712;18093228;18088275;18055262;18052595;18042549;18036796;18031768;18025790;18006148;17996481;17968943;17968311;17949478;17942638;17929017;17825301;17762899;17726742;17724016;17706726;17699594;17676480;17653045;17651425;17637743;17578349;17556598;17543283;17537668;17537644;17532297;17522998;17505261;17503459;17497037;17478553;17466952;17381064;17298206;17234579;17204151;17169545;17157157;16996573;16949906;16905765;16876430;16867222;16840552;16822883;16820871;16816927;16807244;16769728;16739027;16723715;16709186;16685268;16638370;16631837;16597610;16521228;16495214;16490198;16320338;16304044;16278388;16257968;16227592;16222707;16210019;16160009;16135988;16103882;22393273;16077964;15996482;15985216;15947088;15942693;15906377;15875782;15875316;15825079;15817123;15809086;15780951;15769981;15769511;15756443;15737206;15731686;16080018;16077988;15726914;15725477;15713745;15703886;15695515;15680705;15631865;15610530;15603823;15573376;15525641;15496150;15481452;15464234;15342556;15316024;15302993;15297314;15293454;15249224;15247275;15247002;15243127;15208265;15199049;15166228;15146197;15120936;15117822;15096041;15033176;14699503;14680499;14672345;14669345;14630795;14523006;13680247;12872165;12871334;12871330;12857733;12857600;12823444;12815619;12799459;12755687;12746216;12727994;12682649;12676798;12659634;12651930;12631070;12623787;12607599;12590983;12574959;12571252;12545206;12538477;12517814;12509902;12496364;12478660;12477932;12428103;12403780;12393937;12369790;12235165;12209593;12172783;12168799;12145206;12087465;12080186;12057924;12054499;12032827;12020352;12008951;12006402;12000311;11999550;11986954;11985797;11976347;11964307;11960370;11940567;11928807;11891801;11891198;11864711;11847221;11815602;11796824;11742492;11716516;11708770;11598182;11509569;11390973;11276432;11066092;10950949;10652299;10438928;10397733;10358027;9925931;9858574;9826564;9558385;9342064;9266968;8885834;8530375;8344959;7999082;7935812;7735329;7691311;7532176;3964259;3780670;3732516;3579930;3472745;2726761;2538817;2435284;2320377;2265560;1885605;1849658;1785797;1769963;1707542;1702556;1417798;11141237;15689238;16436505;16982797;11030354;12717444;22009965;22546563;21528671;17285972;19913121;20335309;20571834;20628086;20628624;20634891;20641033;20644561;20672350;20673868;20713592;20224347;21266348;19952401;20926602;20628269;20504870;20819778;21041608;21048031;17217840;20362567;20681019;18705695;20001221;20197313;19541589;20504760;20945415;17500071;20116383;20645833;10579907;20857427;10574949;10830168;11053263;11418238;12631064;12660731;15879597;15924676;16020751;16463783;17167778;17562265;17605857;17981115;18329368;18635606;19147956;19308772;19423540;19477940;19489096;19495899;19533745;19556344;19608737;19614919;19631775;19631914;19651147;19670348;19696444;19710942;19713533;19781633;19802384;19822079;19828453;19885553;19890880;19892399;19919531;19930868;19933269;19950605;20016498;20053757;20056600;20127022;20128380;20150555;20202860;20230531;20339243;20363749;20371606;20406964;20438785;20452482;8663044;20514456;20122687;20850693;20886037;21041986;21471211;17166351;18476630;21029699;21506108;21506113;21720547;20206949;20526813;20646480;22680042;22508498;21209880;21460777;18059339;22732006;18051571;21766497;21350328;21515689;22927437;21161264;23053181;21381082;21501244;21695795;22962037;22804708;21539890;23239497;21037114;22016523;21894939;22125837;21832283;21572099;21733164;21139048;21771176;22102278;22836867;23457216;22577248;21998584;23335070;22542539;23071632;23264596;21997191;22228819;19577615;21382096;21678127;21699503;21830216;21835001;21855631;21923031;21942441;21996542;22158871;22174424;22193058;22237711;22260074;22267482;22506349;22493287;22599586;21761458;22895562;23243019;23352645;23448571;23236888;23086340;23122986;21919032;22233184;22730382;23154434;17487982;22335910;22967508 2247 Q9UC54 AA256481;AB451321;AB451450;ABBA01044742;ABBA01044743;AC021205;AMYH01014494;AY820133;BC111737;BE439775;BP292299;BU501243;CH471056;CN315083;J04513;M17599;M27968;NG_029067;NM_002006;S47380;S81809;X04431;X04432;X04433;Y13468 AAA52448;AAA52531;AAA52532;AAA52533;AAA52534;AAB21432;AAD13853;AAI66646;AAV70487;BAG70135;BAG70264;CAA28027;CAA28028;CAA28029;CAA73868;EAX05222;NP_001997;P09038 Hs.284244 1751869;1775110;2116174;2152380;5014063;5016781 D15S1390;SHGC-105784;SHGC-31504;SHGC-59517;SHGC-59784;SHGC-67307 BFGF;FGF-2;FGFB;HBGF-2 OTTHUMP00000037513;basic fibroblast growth factor bFGF;fibroblast growth factor 2;heparin-binding growth factor 2;prostatropin APPROVED protein-coding ENSG00000138685 3676 00622 134920 REVIEWED 1344909 FGF19 fibroblast growth factor 19 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. [provided by RefSeq, Jul 2008] 11 11 q13.1 69222187 69228287 - 69513006 69519106 - 1580863;6480464;6484113;6907045 20013647;23205607;9931477;11294897;16597617;19185005;18829467;18559909;17711860;17599042;17339340;17000708;15489334;15340161;15199049;14976145;14730967;12975309;12815072;12792807;12477932;12057932;11956156;11110663;10525310;21436455;19681655;20453838;10579907;10652257;17623664;18187602;19237543;20018895;20093562;20691689;21397858;23038264;21437243;19233843;21691104;21747170;21653700;22166511;22396169;22267484;22442730;21953282;21574752;22561792;23329754 9965 O95750 AB018122;ABBA01010293;AF110400;AMYH01003772;AMYH01003773;AP001888;AY358302;BC017664;BT006729;CH471076;NM_005117 AAD45973;AAH17664;AAP35375;AAQ88669;ADZ15716;BAA75500;EAW74751;NP_005108;O95750 Hs.249200 2163390 RH67988 FGF-19;OTTHUMP00000237182;fibroblast growth factor 19 APPROVED protein-coding ENSG00000162344 3675 04868 603891 REVIEWED 1344631 FGF21 fibroblast growth factor 21 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this growth factor has not yet been determined. [provided by RefSeq, Jul 2008] 19 19 q13.33 53951156 53953394 + 49259344 49261582 + 1303354;1580863;6480464;6907045 10858549 21525989;19318452;19059246;18829467;18722685;18680716;18559909;18252893;17926232;17452648;17068132;15902306;15340161;15199049;12975309;12477932;22701542;21889884;22740503;22523080;22539584;21849508;21664250;20452080;17623664;19117008;19401423;19487637;19528204;19531592;19699495;19702724;19720803;19926712;20332535;19681655;20566587;20717167;21060863;20566462;21502324;20451522;20675007;20682689;20362303;22248288;21309058;21123446;21206918;20629328;21712364;21505329;21691104;21820356;21373720;21926274;21750278;21596453;22442730;22344195;21521346;21521350;19953087;21767451;21949781;22013098;18840768;22046277;22233381;21812521;22152380;22190000;19322201;21696361;22293928;22529197;21926972;22136913;22438225;21988350;22378787;22398021;21988832;22881230;23283977;23372041;23129782 26291 Q9NSA1 AB021975;ABBA01032968;AC009002;AMYH01009908;AY359086;BC018404;CH471177;HC470937;HI660981;HI661168;NG_007510;NM_019113 AAH18404;AAQ89444;ABM82712;ABM85896;BAA99415;CBL54507;CBY65805;CBY65875;EAW52401;EAW52402;NP_061986;Q9NSA1 Hs.283015 FGF-21;fibroblast growth factor 21 APPROVED protein-coding ENSG00000105550 3678 09447 609436 REVIEWED 1343486 FGF4 fibroblast growth factor 4 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008] 11 11 q13.3 69296978 69299352 - 69587797 69590171 - 1580863;6480464;6484113;6907045 2959959;17133345;1697263;9139660;11294897;16597617;19277121;19074885;18811955;18510611;18192227;17852409;17390055;15695515;15199049;15146197;14980503;12923055;12841847;12172783;12163055;12008951;11840335;11743396;11486033;11021964;10089404;8663044;3283658;3060803;2974287;2957062;2953031;1611909;20634891;20673868;20453838;10579907;11023873;12660731;17167778;20452482;20864512;21048031;22587598;21567388;22237711;21673370 2249 AAB21430;P08620;Q14569 ABBA01010294;AMYH01003773;AP001888;AW340506;CH471076;CN429959;CQ783028;FJ456981;J02986;M17446;NM_002007 AAA59473;AAB21430;AAB59555;AAB59556;AAI56334;AAI72495;ACJ68447;CAF86234;EAW74752;NP_001998;P08620 Hs.1755 1742487;2116136;2124134 D11S4381;FGF4;GDB:197559 HBGF-4;HST;HST-1;HSTF1;K-FGF;KFGF FGF-4;HSTF-1;OTTHUMP00000237541;fibroblast growth factor 4;fibroblast growth factor 4 splice isoform;heparin secretory transforming protein 1;heparin secretory-transforming protein 1;heparin-binding growth factor 4;human stomach cancer, transforming factor from FGF-related oncogene;kaposi sarcoma oncogene;oncogene HST;transforming protein KS3 APPROVED protein-coding ENSG00000075388 3682 01294 164980 REVIEWED 733951 FGF17 fibroblast growth factor 17 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was shown to be prominently expressed in the cerebellum and cortex. The mouse homolog of this gene was localized to specific sites in the midline structures of the forebrain, the midbrain-hindbrain junction, developing skeleton and developing arteries, which suggests a role in central nervous system, bone and vascular development. This gene was referred to as FGF-13 in reference 2, however, its amino acid sequence and chromosomal localization are identical to FGF17. [provided by RefSeq, Jul 2008] 8 8 p21 21956374 21962266 + 21900428 21906320 + 69833;708340;1580863;6480464;6484113;6907045 9514906;9751161 17133345;1697263;9139660;11294897;16597617;12975309;19122663;15489334;15199049;15129425;14702039;12477932;10751172;10381577;8889548;10579907;21048031;16384934;9045692;21319186;23643382 8822 O60258 AB009249;ABBA01005498;ABBA01005499;AC091171;AF497475;AK091643;AMYH01018562;AY358869;BC069475;BC105131;BC113489;BC143789;BM666883;CH471080;NM_003867 AAH69475;AAI05132;AAI13490;AAI43790;AAM09570;AAQ89228;ADR83507;BAA25429;EAW63727;EAW63728;EAW63729;NP_003858;O60258 Hs.248192 FGF-13;HH20 FGF-17;OTTHUMP00000122553;OTTHUMP00000224730;fibroblast growth factor 17 APPROVED protein-coding 3673 04765 603725;615270 REVIEWED 1351158 FGF7P1 fibroblast growth factor 7 pseudogene 1 18 18 p11.21 14875895 14880090 - 14885895 14890090 - 9326632 387559 ABBA01048264;AMYH01008869;AP005121;NG_006580 HsT283 pseudo 21455 INFERRED 733776 FGF22 fibroblast growth factor 22 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 173993 177696 - 590926 594604 + 639926 643604 + 1580863;6480464;6907045 11342227;17133345;8622701;11294897;16597617;15806171;15260994;15199049;12975309;12477932;12660731;10579907;22318606 27006 K7ELB9;O60371;Q9HCT0 AB021925;ABBA01002580;AC004449;AMYH01009195;AY359084;AY426986;BC137444;BC137445;CH471242;NM_020637 AAC06148;AAI37445;AAI37446;AAQ89955;AAQ93357;BAB13479;EAW61175;EAW61176;NP_065688;Q9HCT0 Hs.248087 FGF-22;fibroblast growth factor 22 APPROVED protein-coding 3679 05784 605831 REVIEWED 1342596 FGF7P2 fibroblast growth factor 7 pseudogene 2 21 21 q11.2 13635672 13647752 + 14721586 14725781 + 9326632 394217 Q9NSJ0 ABBA01030836;AL049911;AL163203;AMYH01012131;NG_005961 CAB90393 FGF7L;PRED3 pseudo 17193 INFERRED 69203 FGF7 fibroblast growth factor 7 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008] 15 15 q21.2 47502751 47566815 + 49715375 49779523 + 1580863;2289084;2289080;2289085;2289086;2301091;2301094;2301090;6480464;6484113;6907045 17306351;11000522;11482780;9285567;9070494;9000125;18566572 2475908;7973639;17133345;11493558;11294897;19326389;19287982;19281086;19250802;19148469;19106113;18386288;17994369;17944804;17882267;17786302;17706640;17692400;17609292;17596295;17525264;17360555;17301835;17200110;17049492;16984257;16554439;16344560;16216128;16162944;16141466;15809711;15806171;15781986;15695515;15690149;15679583;15677771;15613483;15562028;15327889;15252450;15250830;14962112;12802496;12645668;12529371;12477932;12438323;12413766;12243757;12215437;12122441;12016100;12008951;11973338;11943656;11937263;11891329;11821103;11326315;11147673;10702276;9794620;9369951;9326632;8898224;8663044;8566750;8392040;7749227;7687739;7680645;2915979;1664700;1409637;1281549;9582367;20634891;21921092;20620021;10541313;10579907;11023837;15199049;17449030;17593825;17953372;19434818;19584147;19700645;19920075;19956603;20036421;20065999;9740653;21565293;21082280;19780816;21436609;21340484;22949940;21782870;22555975;22713451;21988832;22946653;23408906;23096718;23547113;1309608;22481617 2252 H0YNE7;H0YNY5;P21781;Q6FGV5 ABBA01039126;AC022306;AC025919;AK313160;AMYH01006632;BC010956;CH471082;CR542002;DB206350;M60828;NG_029159;NM_002009;S81661 AAA63210;AAB21431;AAH10956;BAG35978;CAG46799;EAW77376;NP_002000;P21781 Hs.567268 5021494;5092304 G15911;SHGC-84206 HBGF-7;KGF FGF-7;OTTHUMP00000162252;fibroblast growth factor 7;heparin-binding growth factor 7;keratinocyte growth factor APPROVED protein-coding 3685 01022 148180 REVIEWED 1350517 FGF5 fibroblast growth factor 5 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 q21 81406766 81431195 + 81187742 81212171 + 1580863;6480464;6907045 9786939;3211147;17133345;1697263;9139660;16597617;19430483;18362893;15199049;14702039;12477932;12008951;11876253;11715949;11454700;10823842;9333017;9323936;9134330;8663044;8386828;8374885;7923352;2577873;2005884;1700424;1658709;20634891;22959498;12660731;20154207;20201926;20479155;20542020;9045692;20819778;20852445;21045733;10579907;21909110;21909115;23263486 2250 H0Y9E2;P12034;Q8NBG6;Q8NF90 AA461028;AB016517;ABBA01063402;ABBA01063403;AC021127;AF171928;AF355187;AF535149;AK090557;AK291962;AK312065;AMYH01014344;BC074858;BC074859;BC131502;BG252761;BQ001160;CH471057;DQ151636;DR004226;M23534;M23536;M37825;NG_029501;NM_004464;NM_033143 AAB06463;AAB60698;AAB60699;AAF89742;AAH74858;AAH74859;AAI31503;AAN04097;AAQ15127;AAZ67914;BAA33738;BAC03477;BAF84651;BAG35001;EAX05859;EAX05860;NP_004455;NP_149134;P12034 Hs.37055 1646921;1667341;1755583;1769120;5015619;5037552 D11S3114;D4S3139;D8S2279;SHGC-142438;SHGC-59544;SHGC4-69 HBGF-5;Smag-82 FGF-5;OTTHUMP00000160795;OTTHUMP00000160796;fibroblast growth factor 5;heparin-binding growth factor 5 APPROVED protein-coding ENSG00000138675 3683 01307 165190 REVIEWED 1346722 FGF3 fibroblast growth factor 3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008] 11 11 q13 69333917 69343129 - 69624736 69634192 - 1580863;6480464;6907045;7240710 3023852;2470007;16263090;17133345;8622701;11294897;16597617;19453261;18701883;18464913;18435799;17656375;17360555;17236138;15489334;15199049;12477932;11438656;10749884;8663044;8223243;1922362;20453838;10579907;11353842;19923290;19950373;20018768;21306635;21480479;21359960;18562274;22993869;23169889 2248 P11487 ABBA01010294;AMYH01003773;AP006345;BC113739;CH471076;NG_009016;NM_005247;X14445 AAI13740;CAA32615;EAW74753;EAW74754;NP_005238;P11487 Hs.37092 1855676 SHGC-11930 HBGF-3;INT2 FGF-3;INT-2 proto-oncogene protein;OTTHUMP00000237184;V-INT2 murine mammary tumor virus integration site oncogene homolog;fibroblast growth factor 3;fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog);heparin-binding growth factor 3;murine mammary tumor virus integration site 2, mouse;oncogene INT2;proto-oncogene Int-2 APPROVED protein-coding 3681 01289 164950;610706 REVIEWED 733956 FGF8 fibroblast growth factor 8 (androgen-induced) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008] 10 10 q24 103519877 103525817 - 103529887 103540126 - 1580863;2289339;2289343;2289338;2289340;2289342;2289344;2301097;2314151;2314157;2301098;6480464;6484113;6907045;7240710 11764380;10343609;12778074;11406643;11072239;10023681;12208767;19464577;18699993;9840935 8595889;17133345;8700553;8661131;9139660;11294897;16597617;18596921;18386787;17600781;17512240;17264867;16683270;16384934;15935652;15199049;12477932;12140757;12054865;11953856;11420691;11358849;11341643;11021964;10751172;10736564;10574949;9332670;8891346;8663044;7737407;22423049;20634891;21048031;10579907;20463092;15193767;17265164;17309880;17394220;18437684;19415685;21076617;15146197;21034500;21319186;21119603;23466786;23533228;21832120;22237711;22319038;20301509 2253 A1A515;P55075;R4GMQ3 AB014615;ABBA01063188;ABBA01063189;AC010789;AF520763;AMYH01003008;AMYH01003009;BC069106;BC128235;BC128236;CH471066;CN369230;CS007996;D38752;NG_007151;NM_001206389;NM_006119;NM_033163;NM_033164;NM_033165;S78466;U36223;U36228;U46211;U46212;U46213;U47011;U56978 AAB03787;AAB17893;AAB17894;AAB34255;AAB40953;AAB40954;AAB40955;AAC50782;AAC50783;AAC50784;AAC50785;AAH69106;AAI28236;AAI28237;AAM55238;BAA22527;BAA28605;CAI53480;EAW49746;EAW49747;EAW49748;EAW49749;EAW49750;NP_001193318;NP_006110;NP_149353;NP_149354;NP_149355;P55075 Hs.57710 2177470;2189759 D1Bda63;RH18043 AIGF;FGF-8;HBGF-8;HH6;KAL6;MGC149376 OTTHUMP00000020348;OTTHUMP00000020349;OTTHUMP00000020350;OTTHUMP00000020351;androgen-induced growth factor;fibroblast growth factor 8;heparin-binding growth factor 8 APPROVED protein-coding 3686 02727 600483;612702 REVIEWED 1351456 FGF23 fibroblast growth factor 23 This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013] 12 12 p13.3 4347654 4359155 - 4477393 4488894 - 1598933;1580863;6480464;6484113;6907045;7240710 11062477 20525976;17129170;16941023;17086194;16597617;19515808;19453261;19414634;19411468;19366850;19357251;19329831;19214027;19188744;19148564;19050056;19019915;18972258;18829467;18682534;18678710;18660671;18660670;18591743;18346951;18310961;18282132;18234575;18214537;18166826;17982392;17968495;17761032;17699549;17567652;17494882;17464094;17374707;17359508;17333246;22311343;22567137;22577109;22592418;22703926;20180772;20613714;16638743;16381997;16352682;16337659;16234967;16081635;16055933;16033853;15961556;15930999;15749088;15613425;15590700;15489334;15340161;15284207;15268897;15264182;15248822;15199049;14988389;14633152;12975309;12874285;12854832;12851820;12791601;12519781;12477932;12419819;12032180;12032146;11805436;11737582;11409890;11344269;11157998;11032749;12678920;12590648;20529556;20558539;21135546;20571400;20583336;20641162;20176609;20448073;20685863;21048031;20943782;20955275;15040831;19181315;19215029;19395730;19480830;19524924;19609206;19655082;19679205;19684183;19712854;19776202;19797911;19837926;19929273;19946326;19965540;19966287;20150940;20157196;20357029;20379614;20394945;20479029;20037176;20368304;20546343;22099949;22300739;22362063;22647968;20576822;20634326;20966399;23155694;21041973;20944552;20946192;20966122;21030580;21050253;21673295;21472778;21406293;20707671;20717920;21335460;21436289;20813767;21389978;21479768;21502756;20838781;21852584;22851630;21139318;21873490;22393163;20196777;21303965;21865755;21903574;22319041;21597229;21985788;22406119;22886720;21903990;22109743;22425694;22492635;22530966;21390563;22419710;21984611;22010474;22700885;22360923;22023931;22034506;22396161;22396162;22396166;22076875;22121948;22383345;23180879;22551310;23144073;23324126;23235154;23085728;23146451;23263487;22742720;23243213;22554017;22689697;23339433;23413976;12130585;19844248;20837471;22421513;22710695 8074 Q7Z4T2;Q9GZV9 AB037973;AB047858;ABBA01048765;AC008012;AF263537;AMYH01004196;AY336491;AY358323;AY566236;BC069333;BC096713;BC098147;BC098252;CH471116;CS072309;GM685208;GM710003;HH835133;NG_007087;NM_020638 AAG09917;AAH69333;AAH96713;AAH98147;AAH98252;AAP97433;AAQ88689;AAS59157;BAB13477;BAB55889;CAI93447;CAT81644;CAT82838;CBX33262;EAW88848;NP_065689;Q9GZV9 Hs.287370 1655430;1793004;2219084 FGF23_4082;G19259;PMC182207P2 ADHR;FGFN;HPDR2;HYPF;PHPTC FGF-23;OTTHUMP00000238376;fibroblast growth factor 23;phosphatonin;tumor-derived hypophosphatemia inducing factor;tumor-derived hypophosphatemia-inducing factor APPROVED protein-coding ENSG00000118972 3680 05648 193100;211900;605380 REVIEWED 732549 FGF6 fibroblast growth factor 6 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008] 12 12 p13 4413569 4425041 - 4543308 4554780 - 1580863;2289066;2301089;6480464;6484113;6907045 10945637;2289066 17133345;2649847;1697263;9139660;11294897;16597617;15489334;15199049;12477932;11801566;8663044;8020938;1886714;1549352;1385111;10579907;20458746;20558539;23263487 2251 H0YGZ9;P10767 ABBA01048764;AC008012;AMYH01004196;AY581424;BC121097;BC121098;CH471116;NM_020996;X14071;X14072;X14073;X57075;X63454 AAI21098;AAI21099;AAS79318;CAA40358;CAA40359;CAA40360;CAA45054;CAB37648;EAW88847;NP_066276;P10767 Hs.166015 1742903 GDB:214840 HBGF-6;HST2 FGF-6;HST-2;HSTF-2;OTTHUMP00000238378;fibroblast growth factor 6;heparin secretory-transforming protein 2;heparin-binding growth factor 6 APPROVED protein-coding ENSG00000111241 3684 00623 134921 REVIEWED 735806 FGF9 fibroblast growth factor 9 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008] 13 13 q11-q12 21143875 21174187 + 22245215 22278640 + 69835;1580863;704404;6480464;6484113;6907045;7240710 8321227 8575785;1697263;9139660;11294897;16597617;19589401;18618013;18593907;18165946;17154280;17133345;16982695;16540513;15780951;15489334;15199049;15057823;14702039;14602803;12565813;12477932;12072406;11223514;11060292;10574949;10544294;10362017;9507114;9121694;8663044;8576175;8428960;20634891;12660731;14534538;19460469;19564416;20424473;20819778;21048031;17848411;10579907;21499246;21666490;22006051;22920789;22939835;23291589 2254 P31371 ABBA01068609;AK095571;AK290792;AL139378;AMYH01004960;AMYH01004961;AMYH01004962;AY682094;BC069692;BC103978;BC103979;CH471075;CR746503;D14838;NG_016272;NM_002010 AAH69692;AAI03979;AAI03980;AAT74624;BAA03572;BAF83481;EAX08316;NP_002001;P31371 Hs.111 1650902;1694774;1730572;1777045;1791141;1795834;2121168;2145850;2166330;7189339;7189347 D13S143;D13S1821;FGF9_1657;G43600;RH48943;RH78332;STS-D14838;STS-H24274;UniSTS:258275 FGF-9;GAF;HBFG-9;HBGF-9;MGC119914;MGC119915;SYNS3 FGF-9;HBGF-9;OTTHUMP00000018804;fibroblast growth factor 9;glia-activating factor;heparin-binding growth factor 9 APPROVED protein-coding ENSG00000102678 3687 02951 600921;612961 REVIEWED 6481452 FGFR1OP2P1 FGFR1 oncogene partner 2 pseudogene 1 13 27479625 27479913 + 100873883 ABBA01007921;AL160035;AMYH01004985;NG_032350 pseudo 39706 INFERRED 1350352 FGFBP1 fibroblast growth factor binding protein 1 This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011] 4 4 p15.32 15546290 15549069 - 15937192 15940363 - 1580863;6480464 1885605;16713569;16352855;16324873;16257968;15806171;15489334;12477932;11509569;11407864;11291074;11148217;10753873;9784842;9334727;20634891;20677014;19411256;19668233;20450993;21436287;17178288 9982 Q14512 ABBA01032575;AC005798;AF149412;AK291307;AMYH01014025;AW959908;BC003628;BC008910;BC018852;BQ435589;BX434467;CH471069;M60047;NM_005130 AAA58636;AAD39216;AAH03628;AAH08910;BAF83996;EAW92748;NP_005121;Q14512 Hs.1690 2109305;2140253;2168610 D4S3140;FGFBP1_9026;STS-M60047 FGF-BP;FGF-BP1;FGFBP;FGFBP-1;HBP17 17 kDa HBGF-binding protein;17 kDa heparin-binding growth factor-binding protein;FGF-BP;FGF-BP1;FGF-binding protein 1;FGFBP-1;OTTHUMP00000123370;fibroblast growth factor-binding protein 1;heparin-binding growth factor binding protein APPROVED protein-coding ENSG00000137440 19695 06371 607737 REVIEWED 1347294 FGFBP3 fibroblast growth factor binding protein 3 10 10 10 q23.32 87410015 87412928 - 93656326 93659220 - 93666345 93669258 - 6480464 18669637;15489334;15164054;12477932;16303743 143282 Q8TAT2 ABBA01021921;AK075410;AK315427;AL359198;AMYH01002944;BC025966;CH471066;CS051215;DQ503576;DR759872;NM_152429 AAH25966;ABF56582;BAC11602;BAG37815;CAI72103;EAW50104;NP_689642;Q8TAT2 Hs.466120 2169497;2169499 RH44571;SHGC-34818 C10orf13;FGF-BP3;MGC39320 FGF-binding protein 3;FGFBP-3;OTTHUMP00000020092;chromosome 10 open reading frame 13;fibroblast growth factor-binding protein 3 protein-coding ENSG00000174721 23428 08499 VALIDATED 1347116 FGFR3P1 fibroblast growth factor receptor 3 pseudogene 1 6 6 p21.33 32947856 32948167 + 31345494 31345805 + 8307783;8864177;9098453 100462812 ABBA01038073;AL669854;AL671883;AL845443;AMYH01016216;BX248310;CR318637;L25647;NG_025930;U49177 D84394.2;FGFR3P;FGFR6 APPROVED pseudo 21664 INFERRED 1602454 FGFBP2 fibroblast growth factor binding protein 2 This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff, Oct 2008] 4 4 4 p16 16426407 16429403 - 15570964 15573926 - 15961863 15964859 - 6480464 15489334;16652150;15898988;12975309;12477932;11342666;12322897;21079801;21832049;23534349 83888 Q9BYJ0 AB021123;ABBA01032575;AC005598;AF361936;AMYH01014025;AY358978;BC025720;CH471069;CN480296;NM_031950 AAH25720;AAK51503;AAQ89337;ABM82988;ABM86182;BAB39770;EAW92749;NP_114156;Q9BYJ0 Hs.98785 1687193 RH92297 HBP17RP;KSP37 37 kDa killer-specific secretory protein;FGF-BP2;FGF-binding protein 2;FGFBP-2;HBp17-RP;HBp17-related protein;OTTHUMP00000158635;fibroblast growth factor-binding protein 2;killer-specific secretory protein of 37 kDa APPROVED protein-coding ENSG00000137441 29451 07413 607713 REVIEWED 3051024 FGFR3P3 fibroblast growth factor receptor 3 pseudogene 3 20 20 6272150 6272565 + 6200977 6201392 + 100462816 ABBA01053902;AL109618;AMYH01011696;NG_021985 pseudo 37948 INFERRED 3051025 FGFR3P2 fibroblast growth factor receptor 3 pseudogene 2 11 11 92788500 92788990 - 95490118 95490608 - 100462815 ABBA01040009;AMYH01003971;AP001877;NG_021799 pseudo 37947 INFERRED 3051031 FGFR3P4 fibroblast growth factor receptor 3 pseudogene 4 3 3 175821377 175822148 - 177418089 177418860 - 100420833 ABBA01058566;AC026355;AMYH01013678;NG_022229 pseudo 37949 INFERRED 3051029 FGFR3P6 fibroblast growth factor receptor 3 pseudogene 6 1 1 220579435 220579983 + 247283036 247283584 + 100420881 ABBA01031781;AL390728;AMYH01001909;NG_022833 pseudo 37951 INFERRED 3028766 FGFR3P5 fibroblast growth factor receptor 3 pseudogene 5 16 16 66851761 66852352 - 34466829 34467420 - 100420952 ABBA01002118;AC023824;AMYH01007635;NG_022502 pseudo 37950 INFERRED 1343286 FGFR6 fibroblast growth factor receptor 6 9098453;8864177;8307783 2265 L25647;U49177 fibroblast growth factor receptor 6 protein-coding 3692 1348205 FGFR1OP2 FGFR1 oncogene partner 2 12 12 12 p11.23 32237461 32265742 + 26982583 27010129 + 27091305 27119581 + 6480464 18782753;15034873;14702039;12477932;11042152;20734064;16344560;16946300;19615732;19959814;21283824;19156129;21139048;19322201;22266860;22880093;22939629 26127 F5GX47;Q9NVK5 ABBA01068042;AC024093;AC024896;AF086411;AF161472;AK001534;AK094888;AL117545;AL117608;AMYH01004350;AY506561;BC032143;BI829470;CH471094;CS185533;DA388639;NM_001171887;NM_001171888;NM_015633 AAF29087;AAH32143;AAR91611;BAA91745;CAB56012;CAJ42714;EAW96540;EAW96541;NP_001165358;NP_001165359;NP_056448;Q9NVK5 Hs.591162 1661401;1690069;1690147;1720043;1720065;1725975;1725991;2125552;5121597 G62316;G62386;RH123773;RH123818;RH44763;RH80150;RH93010;SHGC-56536;SHGC-57928 DKFZp564O1863;DKFZp586C1423;FLJ37569;HSPC123-like;WIT3.0 FGFR1 oncogene partner 2;OTTHUMP00000240462;OTTHUMP00000240464;OTTHUMP00000240465;fibroblast growth factor receptor 1 oncogene partner 2;wound inducible transcript 3.0 protein-coding ENSG00000111790 23098 10589 608858 VALIDATED 1313011 FGFR1OP FGFR1 oncogene partner This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013] 6 6 q27 167332806 167374056 + 167412816 167454066 + 6480464 10373756;9949182;19068216;17888034;16690081;16314388;15489334;15144186;14654843;14574404;12969958;12477932;11689702;18782753;11076968;12221128;12852856;16462731;17540176;18587394;20237496;20379614;20526339;7790358;20570966;22990118;19156129;20360068;21900206;21841780;21139048 11116 O95684 ABBA01033435;AJ420472;AK289846;AK294950;AK312791;AMYH01016853;BC011902;BC037785;BU625682;CH471051;DC418208;FB749996;NM_001278690;NM_007045;NM_194429;Y18046;Z94721 AAH11902;AAH37785;ABM83963;ABM87277;BAF82535;BAG35652;BAG58025;CAA77020;CAT02177;EAW47509;EAW47510;NP_001265619;NP_008976;NP_919410;O95684 Hs.487175 1655925;1696338;1697260;2108095 FGFR1OP_7994;RH102124;SHGC-77766;STS-N39149 FOP FGFR1 oncogene partner;OTTHUMP00000017612;OTTHUMP00000017613;fibroblast growth factor receptor 1 oncogene partner APPROVED protein-coding ENSG00000213066 17012 10392 605392 REVIEWED 732290 FGFR1 fibroblast growth factor receptor 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 8 8 p12 38387813 38445509 - 38268656 38326352 - 1580863;704404;2315911;6480464;6484113;6907045;7240710 19197140 20855522;7960240;1846977;2159626;2167437;8753773;9660748;10748122;17086194;7874169;10918587;9139660;16597617;19489874;19458078;19453261;19330026;19258500;19224897;19211868;19096867;19082464;18978678;18940940;18829480;18790757;18723471;18719360;18682503;18669637;18665077;18593464;18480409;18469019;18463157;18415014;18411303;18315732;18231572;18216705;18171671;18160472;18059337;18042549;18034870;17963255;17893707;17696196;17671674;17545628;17414280;17397528;17389761;17366557;17360555;17343269;17318851;17255109;17154279;17121884;16949906;16882753;16876430;16807244;16807070;16764984;16757108;16685373;16606836;16598308;16470795;16424058;16365308;16344560;16335952;16316338;16305343;16188231;16186508;16091423;15955231;15929978;15863034;15845591;15817662;15774903;15767480;15695515;15680705;15625620;15618886;15613419;15605412;15564375;15558020;12651930;12627230;12614330;12604616;12601080;12594223;12573278;12477932;12440521;12411316;12397010;12373339;12181353;12141425;12121226;12080186;12031912;12020352;11919391;11877385;11759058;11746971;11693202;11486033;11459840;11257130;11173846;11090629;11032250;11030354;10950949;10830168;10751172;10713090;10629055;10574949;10551883;10490103;10464310;10336501;9949182;9655399;9632781;9480847;9212826;8929854;8756477;8752212;8737680;8692946;8663044;15509650;15489334;15316024;15297314;15273729;15117958;15096041;15001591;14702039;14636241;14587039;14513299;12799194;12794748;12791257;12746216;12815057;22514272;22523080;22665522;22837387;8622701;8417497;8386828;8125298;8074689;7789168;7761103;7680645;7537362;7516330;7514169;2554327;2162671;1722683;1722570;1697263;1689310;1662973;1652059;1650441;1380281;1379698;1379697;1317750;8576175;20686451;20117945;20606682;20634891;20672350;20717167;20103604;20362962;20932831;20389169;11353842;11401320;16440004;18563556;19574212;19658100;19663702;19665973;19666467;19696444;19727229;19730683;19802384;19820032;19822079;19890272;19920251;19920824;19923290;20036812;20068287;20179196;20379614;20388777;20544801;20024612;20538960;20643727;20734064;21041608;19728793;20536592;10579907;20389085;20301509;21451043;21765395;21160078;20421966;21329481;20889570;22974441;22791819;22955284;22724017;21430024;21835001;21515689;21621521;17540176;21666749;22179561;22842457;15863030;21330321;21527526;23564461;21739604;21779335;21682876;22684217;21885851;21952621;21969607;22393163;22319038;21868365;19953087;21139048;22030335;23401445;21666686;21712446;22247553;22569333;22442730;22248288;22673519;20301628;21942441;22648708;23154548;23276709;23296701;23182986;23243019;16273093;21988832;22573348;22939624;22903848;23070782;22989054;23082000;23171834;22781593;23029290;22499828;23569208;22438050;22701738;22505724 2260 C9J1L5;C9J205;E7EU09;E9PKF2;E9PKV7;E9PKX3;E9PN14;E9PNM3;E9PQ40;H0YE20;J3KNT4;Q9UDF2 A29216;AB208919;ABBA01023532;ABBA01023533;AC087623;AF173898;AK001052;AK024388;AK094303;AK130555;AK222718;AK223126;AK291754;AK292470;AK309947;AMYH01018653;AW206093;AY585209;BC015035;BC018128;BC091494;BQ774633;BX649167;CH471080;CX756209;CX757985;DB300904;EF525171;EU826596;EU826597;FJ809916;FJ809917;M34185;M34186;M34187;M34188;M34641;M37722;M60485;M63887;M63888;M63889;NG_007729;NM_001174063;NM_001174064;NM_001174065;NM_001174066;NM_001174067;NM_015850;NM_023105;NM_023106;NM_023110;S76658;X51803;X52833;X57118;X57119;X57120;X57121;X57122;X66945;Y00665 AAA35835;AAA35836;AAA35837;AAA35838;AAA35839;AAA35840;AAA35958;AAA35959;AAA35960;AAA75007;AAD14230;AAH15035;AAH18128;AAH91494;AAQ13645;AAS79322;ABM85925;ACF47632;ACF47633;ACO38645;ACO38646;BAD92156;BAD96438;BAD96846;BAF84443;BAF85159;CAA01958;CAA36101;CAA37015;CAA40400;CAA40401;CAA40402;CAA40403;CAA40404;CAA47375;CAA68679;EAW63303;EAW63304;EAW63305;EAW63306;EAW63307;EAW63308;EAW63309;EAW63310;EAW63311;EAW63312;EAW63313;EAW63314;EAW63315;EAW63316;NP_001167534;NP_001167535;NP_001167536;NP_001167537;NP_001167538;NP_056934;NP_075593;NP_075594;NP_075598;P11362 Hs.264887 1651742;1662694;1673259;1743009;1743079;1775191;1794756;2113546;2118256;2118677;2129117;2191097;5015861;5015961;5020948;5022578;5022651;5037552;5110706;7184812;7185938 D10S16;D11S2921;D15S1477;D1S1423;D2S2823;D8S135;D8S2279;FGFR1_V35;G15900;G35510;GDB:235795;GDB:251744;MARC_14569-14570:1009480763:3;PMC55319P1;RH16447;RH48951;RH70870;RH78260;SHGC-32099;SHGC-37155 BFGFR;CD331;CEK;FGFBR;FGFR-1;FLG;FLJ99988;FLT-2;FLT2;HBGFR;HH2;KAL2;N-SAM;OGD;bFGF-R-1 FGFR-1;FGFR1/PLAG1 fusion;FLT-2;FMS-like tyrosine kinase 2;OTTHUMP00000190874;OTTHUMP00000190875;OTTHUMP00000190876;OTTHUMP00000190877;OTTHUMP00000190879;OTTHUMP00000190880;OTTHUMP00000190881;OTTHUMP00000190885;bFGF-R-1;basic fibroblast growth factor receptor 1;fibroblast growth factor receptor 1;fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome);fms-related tyrosine kinase 2;heparin-binding growth factor receptor;hydroxyaryl-protein kinase;proto-oncogene c-Fgr;soluble FGFR1 variant 1;soluble FGFR1 variant 2 2314765;2314776 GLUCO100_H;GLUCO101_H APPROVED protein-coding ENSG00000077782 3688 00634 101600;123150;136350;147950;166250;190440 REVIEWED 733044 FGFR3 fibroblast growth factor receptor 3 This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009] 4 4 p16.3 1765421 1780396 + 1795039 1810599 + 1580863;704404;1598937;2289863;2289865;2289866;2289868;2289864;2289867;2301222;2301225;2301223;2301224;6480464;6907045;7240710 8078586;10073901;11114733;11314002;11466624;10471491;11329138;18413799;18072261;18231634;18166262 7923141;18677770;17507011;14551213;11746040;10360393;14732692;10918587;8601314;11294897;16597617;19621447;19551630;19453261;19449430;19449410;19407216;19404844;19381019;19377444;19351817;19327639;19287463;19286672;19255125;19215249;19156776;19088846;19076977;19073250;19070887;18945538;18923003;18818193;18642369;18584939;18583390;18567530;18528286;18503601;18485666;18336810;18231572;18216705;18199430;18036184;18000976;18000903;17950653;17875876;17867603;17867592;17803960;17785202;17683901;17668422;17624273;17621485;17602067;17585316;17561467;17554105;17509076;16210019;16169070;16149130;16091423;16061860;15940250;15915095;15880580;15869706;15788896;15772091;15701828;15558020;15517832;15322115;15292251;15241680;15221641;15105428;15026322;14751560;14715624;14678961;14667819;14606518;14562121;17392824;17384684;17375526;17343269;17320202;17256796;17255960;17240035;17114345;17070479;17033969;16885334;16877735;16849642;16841094;16778799;16685373;16634636;16570285;16532037;16501574;16467200;16434832;16412606;16410555;16384584;16365308;16288035;16278395;16278391;16274647;17414280;14520460;12929929;12921294;12833394;12817007;12764678;12707965;12664252;12637327;12626508;12624096;12576423;12477932;12461689;12433679;12424440;12373339;12368206;12368157;12297284;12244095;12048679;12032146;12009017;11940572;11906172;11839738;11827956;11759058;11754059;11703096;11556601;11529856;11426459;11424131;11350938;11325814;11134040;11055896;11030304;10777366;10751172;10671061;10648414;10574949;11731410;10425034;10395236;10361991;10360402;8841188;8663044;8626374;8599935;8599370;8589699;8589686;8576175;8530501;8428519;8081365;8012398;8012397;7913883;7847369;7773297;7758520;7690989;7670477;7657660;7649548;7647778;7543024;7495869;7493034;2247464;1847508;1664411;10360392;10215410;10094188;10053006;9950339;9843049;9842995;9790257;9677066;9672519;9585583;9580776;9525367;9452043;9279753;9212826;9207791;9142922;9126476;9107244;9045692;9042914;8858131;8845844;21273290;21356388;20634891;20646825;20717167;21388956;19863427;21273588;20972438;20643727;20393505;20539070;19728793;19845664;20348956;10579907;10652257;12815063;18718050;19594619;19694823;19722178;19729838;19752524;19761767;19812598;19821490;19837276;19838370;19843069;19843843;19855393;19888223;19898608;19901323;19909015;20234367;20404005;20420824;20542753;20890030;20538960;20824703;21048031;21072204;20673820;20301540;20301588;20301650;20301331;21451043;21487019;20713021;21116113;21116115;21119106;21152424;20665023;20711586;21324899;21459758;21536014;21225389;21383697;21521775;21683397;21547910;21779335;15748888;21403567;23165795;23019225;21264819;21577207;21894939;22145492;22401680;22401682;22422578;23232572;23298836;22188534;22837387;21815251;22099989;22038757;22203473;22329352;22045636;22161110;22375084;20301628;21792889;23175443;23325524;23142690;23393200;22777346;22939624;23113306;23044018;23272046;22529939;22730329;22903874;22417847;22448597 2261 F8W9L4;P22607;Q0IJ44;Q96T34 AB209441;ABBA01029527;ABBA01029528;AC016773;AF238374;AF245114;AF369211;AF369212;AF369213;AF487554;AK308936;AMYH01013870;AMYH01013871;AMYH01013872;AW204106;AY768549;BC121175;BC128610;BC153824;CH471131;DR003490;HM244683;M58051;M59374;M64347;NG_012632;NM_000142;NM_001163213;NM_022965;S76733;U22410;X84939 AAA52450;AAA58470;AAA63209;AAA67781;AAB33323;AAF63380;AAF97749;AAI21176;AAI28611;AAI53825;AAI66684;AAK54727;AAK54728;AAK54729;AAM22078;AAM22079;AAU89726;ADM64307;BAD92678;CAA59334;EAW82562;EAW82563;EAW82564;EAW82565;EAW82566;EAW82567;EAW82568;NP_000133;NP_001156685;NP_075254;P22607 Hs.1420 1688452;1741957;1744453;1744929;1744967;1745895;2131579;2144502;5117260;5491749 FGFR3;G15851;GDB:187013;GDB:454672;GDB:454675;GDB:581559;GDB:585477;GDB:681581;RH18137;WI-15208 ACH;CD333;CEK2;HSFGFR3EX;JTK4 FGFR-3;OTTHUMP00000149958;OTTHUMP00000149959;OTTHUMP00000217007;achondroplasia, thanatophoric dwarfism;fibroblast growth factor receptor 3;fibroblast growth factor receptor 3 variant 4;hydroxyaryl-protein kinase;tyrosine kinase JTK4 APPROVED protein-coding ENSG00000068078 3690 00624 100800;109800;114500;134934;146000;149730;162900;187600;187601;273300;602849;603956;610474;612247 REVIEWED 736865 FGFR2 fibroblast growth factor receptor 2 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] 10 10 q26 123227845 123347962 - 123237844 123357972 - 1580863;704404;2289657;2289658;2289660;2289664;2289728;2289733;2289845;2289862;2289084;2289746;2289086;2301188;2301190;2301189;2301192;2301194;2301193;2301191;6480621;6480464;6480624;6480629;6480630;6480631;6484113;6907045;7240710 17529967;17529973;17243131;16969861;12111699;11593393;11069376;17525745;17306351;11170144;9285567;18785201;18285324;18552176;14695195;9018118;10602477;17482184;19610084;18247426;21397175;19624690;16158432 1400433;1697263;8676562;10618369;12591959;17981115;17133345;12493773;11294897;19500394;19469636;19453261;19362549;19351817;19287982;19285943;19277121;19243295;19232126;19223389;19212647;19211868;19147536;19111446;17251833;17189145;16984257;16844695;16842598;16807244;16709412;16603716;16501574;16440883;16418739;16410617;16391783;16384934;16373332;16365308;16219767;16216128;16210019;16188231;16141466;16091423;16061565;15931389;15930103;15863034;15840724;15829502;15796961;15728256;15643506;15632068;15622262;15618886;15602758;15561780;15523492;15516981;15489334;15389579;15282208;15229180;15206560;15190072;15146197;15105428;15069536;14624010;14559809;18315732;18216705;18056630;18049087;17997823;17944804;17850625;17803937;17760502;17699848;17692400;17682060;17622301;17545628;17537644;17525264;17512901;17459342;17458890;17449949;17414280;17343269;17264867;19103595;19095219;19094228;19060208;19028704;18973230;18845558;18840094;18829569;18829480;18813210;18804962;18767044;18757403;18726952;18671283;18636142;18629881;18593464;18573884;18483326;18462018;18437204;18393251;18391499;18387281;18381441;18374639;18373495;18355772;18337450;19106113;12893942;12692135;12684693;12684685;12648559;12618336;12608893;12529371;12482414;12477932;12393912;12373339;12168799;12162872;12122441;12072807;12032146;12000365;11937263;11876253;11856867;11781872;11759058;11693202;11556600;11493535;11390973;11380921;11325814;11292657;11173845;11069186;10951518;10950949;10945669;10830168;10751172;10712195;10626794;10574673;10394936;10196476;9719378;9714439;9693549;9677057;9585583;9582367;9521581;9385368;9300181;9266968;9212826;9152842;9150725;9002682;8958319;8956050;8946174;8889548;21173787;22006548;22387015;8696350;8673103;8663044;8644708;8576175;8528214;8434615;8417497;8355693;8188211;7999363;7987400;7874170;7866434;7719345;7719344;7719333;7687739;7668257;7655462;7581378;7528517;2377625;2172978;1846048;1674718;1652059;1648704;1647213;1582255;1380281;1313574;1309608;20838624;21996728;20163525;20124286;20957671;20554749;20605201;20634891;20640597;20677155;20717167;22440254;20620021;20635358;20453838;20809772;21160077;20538960;20853316;20959865;21048031;21060860;20348248;20093481;20798558;20872241;20664043;20214895;10579907;11353842;11923311;14732692;16385451;16597614;17471512;17593825;17953372;17959718;18563556;19224135;19330030;19403560;19434818;19497954;19509166;19536173;19582883;19590514;19608737;19617217;19656774;19735729;19789366;19812598;19822079;19843670;19856316;19861516;19923290;19937600;20043066;20054709;20056625;20106510;20145138;20193855;20237344;20300826;20364400;20379614;20388777;20410112;20417875;20502973;8386828;20856019;19728793;21832049;21329481;20844240;21263130;21382839;21451043;21464042;21152424;22778155;22048896;22665975;21285871;21412257;18029348;22988296;15629145;21527526;21596750;21928350;22355256;21625213;21822685;21957444;21745712;21990352;19953087;21725289;21767389;22195012;22383975;22726438;21838531;22240789;22287734;22144180;20301368;20301592;20301628;22244757;22345151;22374580;22627435;22495904;23184080;23225170;23060048;23393200;23564461;22404656;22752927;23300780;22961180;21988832;23071632;23431754;22926736;23325524;23455922;22661218;23169889;22731611;22951594;23124475;23263486;23354978;23142580;22440694 2263 D2CGD1;E7EVR7;H7BXU9;H7C265;Q9UIH8 AB030073;AB030074;AB030075;AB030076;AB030077;AB030078;AB084153;ABBA01062862;AC009988;AF097340;AF097341;AF097353;AF097354;AF169399;AF360695;AF487553;AK026508;AK294026;AK308621;AMYH01003128;AMYH01003129;BC037338;BC039243;BC096749;CB305736;CH471066;CN345547;CS173036;CX873387;DQ493927;EF057068;EU826598;EU826599;EU826600;EU826601;HM437239;L49237;L49238;L49239;L49240;L49241;L49242;M55614;M80634;M87770;M87771;M87772;M97193;NG_012449;NM_000141;NM_001144913;NM_001144914;NM_001144915;NM_001144916;NM_001144917;NM_001144918;NM_001144919;NM_022970;NM_023029;NR_073009;S40853;S40858;S41878;S82438;U11814;X52832;X56191;Y17131;Z71929 AAA36147;AAA52449;AAA59470;AAA59471;AAA59472;AAA61188;AAA68514;AAB19319;AAB19320;AAB19323;AAC41933;AAC41934;AAC41935;AAC41936;AAC41937;AAC41938;AAD14392;AAD31560;AAD31561;AAD31562;AAD31565;AAD31567;AAF43273;AAF43274;AAH39243;AAK94205;AAK94206;AAK94207;AAK94208;AAK94209;AAM74056;ABE96832;ABO25744;ACF47634;ACF47635;ACF47636;ACF47637;ADN43070;BAA89296;BAA89297;BAA89298;BAA89299;BAA89300;BAA89301;BAC45037;BAG57383;CAA37014;CAA39654;CAA76643;CAA96492;CAJ33699;EAW49338;EAW49339;EAW49340;EAW49341;EAW49342;EAW49343;EAW49344;EAW49345;EAW49346;EAW49347;EAW49348;EAW49349;EAW49350;EAW49351;EAW49352;EAW49353;EAW49354;EAW49355;EAW49356;EAW49357;EAW49358;EAW49359;EAW49360;NP_000132;NP_001138385;NP_001138386;NP_001138387;NP_001138388;NP_001138389;NP_001138390;NP_001138391;NP_075259;NP_075418;P21802 Hs.533683 1334640;1648572;1655322;1658640;1673751;1719863;1742231;1744189;1772164;1793198;1850507;1851225;2106791;2108769;2113956;2174883;5015881;5017170;5091517;5109281;5117428;5117430 D10S1483;D10S2143;D10S2163;D1S1425;FGFR2;FGFR2_647.2;G15912;G17445;GDB:193861;GDB:335751;GDB:435442;GDB:554771;GDB:554776;L29953;PMC20217P1;RH11106;RH123626;RH17739;RH66427;SHGC-16531;UniSTS:464672;WI-16392 BBDS;BEK;BFR-1;CD332;CEK3;CFD1;ECT1;FLJ98662;JWS;K-SAM;KGFR;TK14;TK25 BEK fibroblast growth factor receptor;FGF receptor;FGFR-2;OTTHUMP00000020621;OTTHUMP00000020623;OTTHUMP00000020624;OTTHUMP00000020625;OTTHUMP00000020626;OTTHUMP00000020627;OTTHUMP00000020628;OTTHUMP00000020629;OTTHUMP00000020630;OTTHUMP00000020631;OTTHUMP00000020632;bacteria-expressed kinase;fibroblast growth factor receptor 2;fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome);hydroxyaryl-protein kinase;keratinocyte growth factor receptor;protein tyrosine kinase, receptor like 14;soluble FGFR4 variant 4 APPROVED protein-coding ENSG00000066468 3689 01492 101200;101400;101600;123150;123500;123790;137215;149730;176943;207410;609579;613659;614592 REVIEWED 736644 FGFR4 fibroblast growth factor receptor 4 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. [provided by RefSeq, Jul 2008] 5 5 q35.1-qter 176446527 176457733 + 176513921 176525127 + 1580863;6480464;6484113;6907045 11940572;10918587;11294897;16597617;19500394;19296538;19240166;19237543;19008009;18949411;18762813;18756523;18670643;18593907;18593464;18487077;18349267;18315732;18310279;17664243;17599042;17519899;17487277;17084840;16822847;16721364;16210019;16109476;16091423;16061909;16012724;15750181;15564323;15489334;15448004;15340161;15322115;15231874;15075241;15070963;14710228;14601095;14551213;12817007;12815007;12642581;12637327;12626508;12576423;12477932;12373339;12244095;11981041;11958417;1709094;1385111;1377018;1322355;2247464;1720539;11830541;11781352;11759058;11549253;11350938;11271786;10751172;10736564;10691305;10631118;10525310;10336501;9457674;9212826;9211733;9168198;8663044;8626374;8576110;8530375;8125298;8099571;7690989;7680645;7657660;7543024;7518429;11839738;22271411;21109934;20565774;20634891;20638838;20644561;20660043;20691689;22318606;22439738;20876804;20657013;20798051;14534538;16365308;18070145;19407855;19730683;19809159;19918264;19946327;20018895;20066896;20127014;20147743;20453000;20844967;10579907;21349172;21037081;21203561;22696188;18480409;21622724;21616061;17623664;21412156;21653700;21625079;21882254;18029348;21625954;22419713;22442730;23226373;22174695;22034009;22241720;22313031;22535390;21827571;21656577;22703881;20881960;17203973;23206452;23455922;22573348;22648271;23000965;23393200;22971346;22986737 2264 AAB25788;B5A964;D6R9V0;D6RG06;D6RJD4;E7EWF4;G3JVM2;H0Y9P2;J3KPQ0;P22455;Q96KE5 AB209631;ABBA01033473;AC027314;AF202063;AF359241;AF359246;AF487555;AK225280;AK225909;AK301169;AMYH01015868;BC011847;BF307233;CH471195;EF571596;EU826602;EU826603;JN007471;JN007472;JN007473;JN007474;JN007475;JN007476;JN007477;JN007478;JN007479;JN007480;JN007481;JN007482;L03840;M59373;NG_012067;NM_002011;NM_022963;NM_213647;X57205;X68559;Y13901 AAA63208;AAB25788;AAB59389;AAF27432;AAH11847;AAK43714;AAK51435;AAM13666;ABM84384;ABM87347;ABQ01235;ACF47638;ACF47639;AEO19712;AEO19713;AEO19714;AEO19715;AEO19716;AEO19717;AEO19718;AEO19719;AEO19720;AEO19721;AEO19722;AEO19723;BAD92868;BAG62757;CAA40490;CAA74200;CAB75718;EAW85034;EAW85035;EAW85036;EAW85037;NP_002002;NP_075252;NP_998812;P22455 Hs.165950 2162899 STS-L03840 CD334;JTK2;MGC20292;TKF FGFR-4;OTTHUMP00000161429;OTTHUMP00000161430;OTTHUMP00000223539;OTTHUMP00000223541;fibroblast growth factor receptor 4;hydroxyaryl-protein kinase;protein-tyrosine kinase;tyrosine kinase related to fibroblast growth factor receptor;tyrosylprotein kinase APPROVED protein-coding ENSG00000160867 3691 00625 134935 REVIEWED 1350842 FGS1 FG syndrome 1 7240710 9375929 2269 3698 300895;305450;309520 1348240 FGS2 FG syndrome 2 7240710 11078572 2270 3699 300321 1352068 FGS3 FG syndrome 3 7240710 12239712 93985 1337669 DXS1060 15596 731481 FGG fibrinogen gamma chain The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 q28 155744736 155753352 - 155525286 155533902 - 1599810;737710;1580863;2312416;5688760;6480464;5688769;5688770;5688761;6484113;7175292;6907045 17054587;11001903;7974333;18278190;22014850;19954227;17951283;21685370 8384496;1685103;14691567;12900415;12871494;12663453;12624729;12617173;12477932;12356313;11986220;11986213;11748101;11744726;11562340;11435303;11307817;11073102;11001902;10747940;10467729;10391209;10074346;9712878;9628725;9333233;9207064;9028318;9016719;8756701;8566791;14760718;8404605;8400260;6777381;2742826;5084810;7356959;10605720;8470043;19515723;19492150;19412134;19404553;19332210;19190816;19122172;18989528;18983496;18974842;18848323;18842294;18832913;18779330;18772067;18690352;18676163;18567199;18331453;18239174;18208536;18202324;18000621;17956865;17949478;17938819;17883696;17854317;17849064;19059206;19034331;17827388;17688324;17650452;17591786;17565664;17543500;17445871;17403086;17264959;17263791;17241179;17018627;16940416;16928957;16706972;16705085;16614319;16525568;16524883;16420584;16363805;16335952;16263699;16144795;16141000;16113784;16051597;15795540;15773976;15735812;15671034;15641787;15632207;15583736;15489334;15311153;15304042;15284111;15217804;14764520;8080993;7878009;7841300;7822297;7306501;6957371;6933547;6860649;6689067;6688357;6592597;6575689;6575389;6451630;6383194;6326808;6325435;6281794;6092346;6091742;3708159;3563970;3337908;3160702;2990550;2976995;2971046;2971042;2819242;2738036;2665853;2496144;2328317;2257302;2133219;2071611;1892842;1744509;1733971;21174007;22437918;1455400;1429662;1421174;936108;12501189;21502573;19913121;20628086;20709368;19650644;19687509;19923982;19948975;20031577;20059469;20128871;20167083;20237496;8905624;20508898;20589319;10828988;16005629;16581250;17643375;20666993;20981788;21057694;20838743;21757653;22836683;22489912;21694469;22078561;23056168;21980494;22463367;21103663;22760446;23036532;23422752;23061815 2266 C9JC84;C9JEU5;C9JPQ9;C9JU00;Q9UC63 AA936960;ABBA01070158;AC107385;AF118092;AF350254;AI808530;AK289422;AK290824;AL531173;AMYH01014633;BC007044;BC021674;BG567044;BT007081;BX538098;CH471056;K02569;M10014;NG_008834;NM_000509;NM_021870;X00086;X51473 AAA52430;AAA52431;AAB59530;AAB59531;AAF22036;AAH07044;AAH21674;AAK19751;AAK19752;AAP35744;BAF82111;BAF83513;CAA24944;CAA35837;CAD98014;EAX04905;EAX04906;EAX04907;EAX04908;EAX04909;EAX04910;EAX04911;EAX04912;EAX04913;EAX04914;EAX04915;EAX04916;EAX04917;EAX04918;EAX04919;EAX04920;EAX04921;EAX04922;EAX04923;NP_000500;NP_068656;P02679 Hs.727584 1648143;1666044;1771182;5491380 FGG;SGC35532;SHGC-59537;SHGC-59771 OTTHUMP00000197057;OTTHUMP00000197058;OTTHUMP00000197059;OTTHUMP00000197060;fibrinogen gamma chain;fibrinogen, gamma polypeptide APPROVED protein-coding ENSG00000171557 3694 00621 134850 REVIEWED 1354107 FGFRL1 fibroblast growth factor receptor-like 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 p16 995610 1010686 + 1005610 1020686 + 1580863;6480464 11031111;19056490;18061161;16273302;16019430;15489334;15340161;14702039;12975309;12813049;12477932;11418238;11267671;8125298;19920134;20024584;20453000;20851884;21044961;19913121;20628086;21616146;23251661 53834 A0PJ49;D6RBN8;D6REM7;Q8N441 ABBA01019352;ABBA01019353;AC019103;AF279689;AF312678;AJ277437;AK000530;AK022597;AK172829;AK225486;AK314365;AMYH01013842;AMYH01013843;AMYH01013844;AMYH01013845;AV707425;AY358303;BC002537;BC013955;BC015228;BC036769;BQ689625;CH471131;NM_001004356;NM_001004358;NM_021923 AAH15228;AAH36769;AAK15273;AAK26742;AAQ88670;ABM83343;ABM86557;BAA91234;BAD18794;BAG36996;CAC14171;EAW82615;NP_001004356;NP_001004358;NP_068742;Q8N441 Hs.193326 1669559;1674808 SHGC-67280;STS-W85782 FGFR5;FHFR FGF homologous factor receptor;FGF receptor-like protein 1;FGFR-5;FGFR-like protein;OTTHUMP00000147526;OTTHUMP00000217470;OTTHUMP00000217471;OTTHUMP00000217472;fibroblast growth factor receptor 5;fibroblast growth factor receptor-like 1 APPROVED protein-coding ENSG00000127418 3693 16163 605830 REVIEWED 1604560 FHDC1 FH2 domain containing 1 4 4 4 q31.3 151189210 151225925 + 154083585 154120298 + 153864135 153900848 + 6480464 17362836;15138637;14702039;11214970;8889549;16341674;23251661 85462 Q9C0D6 AB051514;ABBA01070128;ABBA01070129;AC093599;AK172734;AMYH01014625;BI766662;BQ082418;CH471056;NM_033393;T83061;W80711 BAB21818;EAX04967;NP_203751;Q9C0D6 Hs.132629 1663149;1665937;1851839;2118868;2162469;2174580;2179320;5016596 GDB:631802;RH12235;SHGC-34771;SHGC-36483;SHGC-50570;SHGC-51770;SHGC-59851;WI-18191 KIAA1727 FH2 domain-containing protein 1;OTTHUMP00000220256 protein-coding ENSG00000137460 29363 13888 VALIDATED 737041 FGL1 fibrinogen-like 1 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008] 8 8 p22 17766180 17797327 - 17721900 17753047 - 6480464 8390249;19304666;18039467;17805225;16996032;15489334;15063762;14981537;12624729;12477932;11470158;8125298;19913121;20628086;19817957;20379614;20800603;21103663;21618590 2267 Q08830 ABBA01021579;ABBA01021580;AC087273;AF042354;AF168954;AK225616;AK225619;AK289448;AL514837;AL531132;AMYH01018548;AX772838;BC007047;BG565379;BG566131;BG567956;BG618053;BT006635;CH471080;D14446;D87342;DQ086826;NM_004467;NM_147203;NM_201552;NM_201553 AAH07047;AAM88911;AAP35281;AAY68216;BAA03336;BAB70690;BAF82137;CAE06268;EAW63799;EAW63800;EAW63801;EAW63802;EAW63803;NP_004458;NP_671736;NP_963846;NP_963847;Q08830 Hs.491143 1654904;1686138;1778565;1854749;2115485;2176107 D8S1611;RH11590;RH75448;SHGC-33312;STS-AA041306;WI-17167 HFREP1;HP-041;LFIRE-1;LFIRE1;MGC12455 LFIRE-1;OTTHUMP00000122468;OTTHUMP00000224774;OTTHUMP00000224775;OTTHUMP00000224776;OTTHUMP00000224916;fibrinogen-like protein 1;fibronigen-like protein 1;hepassocin;hepatocellular carcinoma-related sequence;hepatocyte-derived fibrinogen-related protein 1;liver fibrinogen-related protein 1 APPROVED protein-coding ENSG00000104760 3695 09312 605776 REVIEWED 1605365 FGGY FGGY carbohydrate kinase domain containing This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 p32.1 59535328 60000987 + 59762625 60228402 + 6480464 17671248;16344560;14702039;12477932;19464757;19193627;19875103;19922123;19922138;20001489;20379614;20800603;21507922;22215998;23251661 55277 C9J015;F2Z2V1;J3QKV9;Q96C11;Q9NV20 AA830864;ABBA01074648;ABBA01074649;ABBA01074650;ABBA01074651;AC093424;AK001848;AK022237;AK054842;AK090568;AK315649;AL035416;AL390234;AL713859;AL954338;AMYH01000658;AMYH01000659;BC000610;BC014947;BU630162;BX119322;BX647626;CH471059;DA072156;DA969344;NG_030039;NM_001113411;NM_001244714;NM_001278224;NM_018291;NR_103473 AAH14947;BAA91940;BAB13993;BAG38015;BAG51432;BAG52187;EAX06619;EAX06620;EAX06621;EAX06622;EAX06623;EAX06624;NP_001106882;NP_001231643;NP_001265153;NP_060761;Q96C11 Hs.444301 1338507;1651163;1719569;1723681;1724941;1749267;1749773;1755973;1757009;1757617;1767059;1781454;2044712;2134862;2173173;2173175;5037552 D1S1577;D1S2801;D8S2279;REN93416;RH119237;RH123084;RH123688;RH36480;SHGC-110950;SHGC-111522;SHGC-112096;SHGC-142791;SHGC-144366;SHGC-145443;SHGC-152720;SHGC-74899;STS-N33945 FLJ10986;RP11-242B9.1 FGGY carbohydrate kinase domain-containing protein;OTTHUMP00000010078;OTTHUMP00000010081;OTTHUMP00000010082;OTTHUMP00000202071 APPROVED protein-coding ENSG00000172456 25610 07721 611370 REVIEWED 1347654 FGL2 fibrinogen-like 2 The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008] 7 7 q11.23 76660624 76667086 - 76822688 76829150 - 1580863;6480464 7642106;18932275;18801734;18390877;16437596;16344560;16335952;15905589;15490304;15489334;12690205;12624729;12477932;11170750;9647217;8125298;1602151;19423547;19590927;20438701;22082274;22983266;23195010;22925132 10875 A4D1B8;Q14314 ABBA01058001;AC007000;AF104015;AF468959;AK222999;AK312672;AMYH01017625;BC017813;BC033820;BC073986;CH236949;CH471091;DB247183;NM_006682;Z36531 AAD10825;AAH17813;AAH33820;AAH73986;AAL68855;ACT64483;ACT64484;BAD96719;BAG35554;CAA85298;EAL24202;EAW77045;NP_006673;Q14314 Hs.520989 1851320;1855668;2133708;2134752;2142340;2154119;2159953;2178080;5022450;5093722 A009V32;D10S275;D7S2907;G32885;RH17500;RH79020;SGC34766;STS-F04943;STS-R61236;STS-Z36531 T49;pT49 OTTHUMP00000161268;fibrinogen-like protein 2;fibroleukin APPROVED protein-coding ENSG00000127951 3696 16098 605351 REVIEWED 733253 FGR feline Gardner-Rasheed sarcoma viral oncogene homolog This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 1 1 p36.2-p36.1 27811387 27834314 - 27938800 27961727 - 1580863;6480464;6484113 2995972;3003578;17845055;16710414;16344560;15723811;15561106;15489334;15098032;14702039;12477932;12473651;12468645;12435267;12387813;12387730;12096713;11928806;11823534;11744621;11672534;11546677;11526478;11162638;11071635;10973280;10702640;10527858;10358777;10229804;10080533;10066823;9208935;8867673;8824280;8753773;8612628;8313462;7812001;7726865;7721825;7678701;7565724;7515063;3922831;3330776;3275868;3023853;2852026;2581127;2154410;1847500;1826268;1690869;1652975;1373875;1339476;8805332;12482968;22974441;15919723;17164290;20056178;15459198;20098747;21300758;7519620;8603737;10739672;2181286;8327512;15707590;22745667;15094368;15190072;15536084;12244095;16273093;21890473;21963094;21988832;22939624;23000965 2268 F5H3M4;P09769;P78453;Q5TGY6 ABBA01034984;AK125143;AK130188;AK301078;AL031729;AMYH01000423;BC064382;BI771758;BQ448283;BX495937;CH471059;CQ834776;DA139476;DA952771;DA960178;K03219;M12502;M19721;M19722;M27454;M63877;NM_001042729;NM_001042747;NM_005248;X52205;X52207;Z13983;Z13989 AAA35679;AAA52451;AAA52452;AAA52762;AAA60585;AAH64382;BAH13403;CAA36457;CAH05603;EAX07748;EAX07749;EAX07750;NP_001036194;NP_001036212;NP_005239;P09769 Hs.1422 1665327;1666452;1744639;2115295;2140321;2175511;2219086 FGR__5988;GDB:549146;SHGC-6996;SHGC-74489;SHGC-74509;SHGC-74510;UniSTS:24107 FLJ43153;MGC75096;SRC2;c-fgr;c-src2;p55-Fgr;p55c-fgr;p58-Fgr;p58c-fgr OTTHUMP00000003601;OTTHUMP00000003602;OTTHUMP00000003603;OTTHUMP00000003604;c-fgr protooncogene;c-src-2 proto-oncogene;p55-c-fgr protein;proto-oncogene c-Fgr;proto-oncogene tyrosine-protein kinase FGR;tyrosine-protein kinase Fgr;v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog APPROVED protein-coding ENSG00000000938 3697 01288 164940 REVIEWED 1316216 FHL3 four and a half LIM domains 3 The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 p34 38235029 38243821 - 38462442 38471187 - 1580863;6480464;7240710 14729955;10049693;19139564;17389685;15453830;15117962;12704194;12681290;12556451;12477932;11135358;10226657;8753811;12145280;11046156;16189514;15610731;20936779;20586194;22990118;16196087;22219185;22362714;21628590;22633874;21139048;21890473;22145905;22505724 2275 Q13643;Q96C98 ABBA01023250;AF133732;AK290641;AK309179;AL603790;AMYH01000509;BC001351;BC011697;BC014501;BT007052;BX384389;CH471059;CR457425;NM_001243878;NM_004468;U60116 AAC04466;AAF61376;AAH01351;AAH11697;AAH14501;AAP35701;ABM84689;ABM86964;ABM92212;BAF83330;CAG33706;EAX07301;EAX07302;NP_001230807;NP_004459;Q13643 Hs.57687 1658691;1736116;1795836 D1S2017E;FHL3_1356;SHGC-74628 MGC19547;MGC23614;MGC8696;SLIM2 FHL-3;LIM-only protein FHL3;OTTHUMP00000004724;SLIM-2;four and a half LIM domains protein 3;skeletal muscle LIM-protein 2 APPROVED protein-coding ENSG00000183386 3704 09101 602790;608898 REVIEWED 735599 FH fumarate hydratase The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008] 1 1 q42.1 239727526 239749677 - 241660857 241683085 - 1598939;1580863;2306828;6480464;6907135;6907045;7240710 15937070;938457;17211469 20618355;17960613;12177782;8200987;3828494;19276158;19151755;19075141;18986479;18728283;18514489;18503824;18313410;18257390;17908262;17476294;16881969;16774737;16757530;16639410;16597677;16477632;16319128;16237213;16098467;15724016;15489334;15334541;14632190;12772087;12612654;12477932;12021453;11865300;9635293;4018793;2759092;975868;434773;22713448;22939629;21398687;20549362;20677014;21319273;18029348;20877624;20231875;16344560;19064571;19470762;19546378;19626040;19963135;20301679;20660115;21695080;21907923;22863883;21445611;22528940;18624398;21139048;21890473;22677546;22586326;23077236;21565611;21963094;22304920;23000965 2271 B1ANK7;P07954 AA669797;ABBA01033250;AK312415;AL359764;AL591898;AL606476;AMYH01001875;AW611924;BC003108;BC017444;BT009839;CH471098;DA129148;FO393423;M15502;NG_012338;NM_000143;U48857;U59309 AAA52483;AAB66354;AAD00071;AAH03108;AAH17444;AAP88841;ABW03809;BAG35325;EAW70090;EAW70091;EAW70092;EAW70093;NP_000134;P07954 Hs.592490 1689767;1753407;1769430;1852408;2108099;2179860 AFM214xe11;D1S258E;FH_8350;RH39631;RH64485;SHGC-107202 HLRCC;LRCC;MCL;MCUL1 OTTHUMP00000037573;fumarase;fumarate hydratase 1;fumarate hydratase, mitochondrial APPROVED protein-coding ENSG00000091483 3700 00652 136850;143890;150800;606812 REVIEWED 1605889 FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1 1 1 1 p36.21 14056662 14207494 + 15442755 15597360 + 15573768 15724622 + 6480464 16710414;16344560;15489334;14702039;12477932;11572484;20379614 114827 B1AJZ9;B7WPP2;E9PQ17;H0Y3C6;H0Y5P0;H0Y605;H0YCR1;H0YE38;H0YEU3;Q5JYW1;Q5JYW3;Q5JYW6 AB067524;ABBA01004712;ABBA01004713;ABBA01004714;ABBA01004715;ABBA01004716;AK057963;AK093300;AK093883;AK096961;AK296920;AL031283;AL158174;AL391094;AL833342;AMYH01000268;AMYH01000269;BC015238;BC027293;BX641070;DA918616;NM_052929 B1AJZ9;BAB67830;BAC04126;BAC04242;BAC04913;BAG59474;NP_443161 Hs.659997 1691922;1733108;1760743 AL033610;D1S1435;SHGC-144266 DKFZp686G2134;DKFZp686P19183;FLJ31291;KIAA1937;RP3-467K16.1 FHA domain-containing protein 1;OTTHUMP00000235313;forkhead-associated domain-containing protein 1 protein-coding ENSG00000142621 29408 PROVISIONAL 6481554 FHP1 fumarate hydratase pseudogene 1 13 42830009 42830711 + 100873790 ABBA01021255;AL136527;AMYH01005071;NG_032302 pseudo 39442 INFERRED 1314439 FHOD3 formin homology 2 domain containing 3 Proteins that contain formin (FMN1; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM, Apr 2010] 18 18 18 q12 30685614 31169391 + 32131700 32614016 + 33877702 34360018 + 737633;6480464 12477932 15966898;15010865;14702039;11214970;19066393;19706596;20195266;20379614;21149568;18029348;23052206;23251661 80206 K7EIY5;K7EKZ0;K7EP24;K7ER94;Q9H604 AB051482;AB084087;ABBA01022427;ABBA01022428;ABBA01022429;AC023043;AC055840;AC090333;AC131053;AK025950;AK026370;AK091899;AK128053;AK308859;AL834480;AMYH01008939;AMYH01008940;BC031518;BC041040;BC050670;BC058897;BC081563;CH471088;HM191478;HY020952;NM_001281739;NM_001281740;NM_025135 AAH50670;AAH81563;AAI56315;AAI57094;ADL62709;BAB15292;BAB15463;BAB21786;BAC67014;BAC87252;BAG52438;CAD39139;EAX01379;EAX01380;EAX01381;EAX01382;NP_001268668;NP_001268669;NP_079411;Q2V2M9 Hs.630884 1339820;1341081;1342111;1653305;1686232;1708884;1726859;1727351;1731701;1751611;1751655;1753159;1764191;1764521;2114122;2123903;2147550;2148667;2167269;2175592;2175594;7185249 A002A43;AB056770;D18S1093;D18S1162;D18S1255;D18S1334;D18S1355;D18S496;D18S57;G19867;G62672;G63083;RH103356;RH65577;SHGC-105595;SHGC-105611;SHGC-110095;SHGC-147829;SHGC-148117;SHGC-83947;WI-20083 FHOS2;Formactin2 FH1/FH2 domain-containing protein 3;formactin-2;formin homolog overexpressed in spleen 2;hFHOS2 APPROVED protein-coding ENSG00000134775 26178 16894 609691 VALIDATED 1350947 FHL2 four and a half LIM domains 2 This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011] 2 2 q12.2 105343715 105421392 - 105977283 106055230 - 1580863;6480464 15572661;18255255;17975004;18029348;9150430;19465923;19325137;19139564;18680509;18653765;18615633;18356303;18224250;17682292;17416352;17383428;17192406;17145880;17093190;16652157;16378916;16355270;16343438;16341674;16311053;15692560;15572674;15489334;15453830;15342556;15161045;15117962;14680945;14550570;12477932;12466281;12432079;12145280;12067710;11821401;11813260;11161712;11135358;11124707;11062252;11046156;11001931;10906324;10654935;10649446;9573400;8753811;18768464;12411495;14729955;14986435;15666801;12358155;15610731;20592280;11099500;12151099;15231748;15509787;16184196;16619241;16713569;16888242;19417068;19815066;20607723;19265191;20460358;20734429;20442768;21377781;23212909;22882857;21308406;21832049;22863883;16196087;19608030;20360068;21826055;21139048;21890473;21906983;22049082;16079911;22219185;22417706;23383046;21150319;21988832;23000965;23413425;22796152;23585479;22797925;22851699 2274 C9J3S8;E9PKF4;F8WDA8;J3KNW4;Q14192;Q2XQU9;Q5TM15;Q6I9R8 AA758053;AB038794;AB158503;ABBA01073858;AC012360;AC068273;AC108058;AK313841;AMYH01010834;AY634685;BC012742;BC014397;BC036085;BC093049;BI092736;BM836767;BP257466;BT006960;BX340370;CB989635;CF552311;CH471127;CR457437;CR936682;CR936799;DQ266432;DQ307067;JQ313902;L42176;NG_008844;NM_001039492;NM_001450;NM_201555;NM_201557;U29332;U60117 AAA85333;AAC50794;AAC52073;AAH12742;AAH14397;AAH93049;AAP35606;AAV35468;AAY14896;AAY15012;ABB73038;ABC25549;ABM87334;ABW03875;AFH75080;BAA92253;BAD69710;BAG36573;CAG33718;EAX01758;EAX01759;EAX01760;NP_001034581;NP_001441;NP_963849;NP_963851;Q14192 Hs.443687 1719461;1777300;2107095;2114146;5015861;5016596;5022578;5024039;5037552;7185938 D10S16;D16S325;D1S1423;D2S2827;D8S2279;FHL2_3112.2;GDB:631802;RH123449;RH47742 AAG11;DRAL;FHL-2;SLIM-3;SLIM3 LIM domain protein DRAL;OTTHUMP00000203164;OTTHUMP00000203165;OTTHUMP00000203166;OTTHUMP00000203167;OTTHUMP00000203168;OTTHUMP00000203169;OTTHUMP00000203172;aging-associated gene 11;down-regulated in rhabdomyosarcoma LIM protein;four and a half LIM domains protein 2;four and a half LIM-domain protein 2;four-and-a-half LIM domains 2;skeletal muscle LIM-protein 3 APPROVED protein-coding ENSG00000115641 3703 04026 602633 REVIEWED 1319244 FIBCD1 fibrinogen C domain containing 1 FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, Apr 2010] 9 9 9 q34.12 104316112 104352719 - 132767722 132804058 - 133777825 133814455 - 737633;6480464 12477932 14702039;12975309;19710473;19892701;20237496;21139048 84929 A3KFJ8;C9J4X0;H0Y4Y8;Q8N539 ABBA01012067;ABBA01012068;ABBA01012069;AK027716;AK292489;AK300287;AL161733;AMYH01021774;AY358311;BC032953;BC112892;CH471090;DC404353;NM_001145106;NM_032843 AAH32953;AAI12893;AAQ88678;BAB55319;BAF85178;BAG62044;EAW87950;EAW87951;EAW87952;EAW87953;NP_001138578;NP_116232;Q8N539 Hs.133205 1763627 SHGC-147320 FLJ14810 OTTHUMP00000022378;OTTHUMP00000022379;OTTHUMP00000022381;fibrinogen C domain-containing protein 1 APPROVED protein-coding ENSG00000130720 25922 16895 613357 VALIDATED 1342641 FHL1 four and a half LIM domains 1 This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009] X X q26 135057346 135121176 + 135228861 135293518 + 1580798;1580863;6480464;7240710 11583900 9929984;7626119;19401155;19181672;19171836;19139564;19075112;18758158;18725486;18465173;18281375;18274675;18244901;18179901;18179888;18073142;17589823;16407297;16344560;15772651;15710417;15610731;15489334;14999091;14702039;12917103;12665801;12477932;12432079;11400158;10524257;10480922;10352231;10049693;9714789;8753811;8125298;21310615;20571991;20633900;20969868;18029348;18482256;19687455;19716112;19850343;20186852;20596604;21219870;21126853;22523091;16196087;21629301;21900206;22053194;22219185;22094483;22094188;21702045;22143536;21139048;21890473;21987572;20301609;22266860;22379092;22412018;23455922;22541254;22778266;22689052;23169582;15963787;22923418;23184937 2273 B7Z9A1;Q5JXH7;Q5JXH8;Q5JXH9;Q5JXI0;Q5JXI2;Q5JXI3;Q5JXI8;Q6IB30 ABBA01055867;ABBA01055868;ABBA01055869;ABBA01055870;ABBA01055871;ABBA01055872;AF063002;AF098518;AF110763;AF220153;AK091702;AK094024;AK122708;AK223299;AK289411;AK297124;AK299379;AK299381;AK299450;AK300966;AK301642;AK304680;AL078638;AL807743;AMYH01023048;AMYH01023049;BC010998;BC088369;BE965488;BM995585;CH471150;CR456974;DA497183;DA917361;DA982372;DC363191;DC373304;DC373386;NG_015895;NM_001159699;NM_001159700;NM_001159701;NM_001159702;NM_001159703;NM_001159704;NM_001167819;NM_001449;NR_027621;U29538;U60115;U60118 AAC35421;AAC50795;AAC52021;AAC72390;AAC72886;AAD21579;AAF32351;AAH10998;AAH88369;ABZ92387;ACE86591;ACE86826;ACE87512;BAD97019;BAF82100;BAG52401;BAG53680;BAH12503;BAH13019;BAH13020;BAH13036;BAH13384;BAH13529;BAH14237;CAG33255;EAW88476;EAW88477;EAW88478;EAW88479;NP_001153171;NP_001153172;NP_001153173;NP_001153174;NP_001153175;NP_001153176;NP_001161291;NP_001440;Q13642 Hs.435369 1644585;1650736;1657082;1691612;1702210;1735092;1739865;1789056;1797532;1857564;1857566;2120802;2121862;2139270 A008Y44;AL032580;D3S2774E;DXS1322;DXS6971E;DXS7158;DXS7575;FHL1_1806;G27965;G65664;RH35898;SHGC-31168;SHGC-77523;WI-18109 FHL-1;FHL1A;FHL1B;FLH1A;KYOT;MGC111107;SLIM;SLIM-1;SLIM1;SLIMMER;XMPMA FHL-1;LIM protein SLIMMER;OTTHUMP00000024097;OTTHUMP00000024098;OTTHUMP00000024099;OTTHUMP00000024100;OTTHUMP00000024101;OTTHUMP00000024102;OTTHUMP00000024103;OTTHUMP00000024104;OTTHUMP00000024106;OTTHUMP00000024107;SLIM;SLIM-1;four and a half LIM domains protein 1;four-and-a-half Lin11, Isl-1 and Mec-3 domains 1;skeletal muscle LIM-protein 1;skeletal muscle LIM-protein1 APPROVED protein-coding ENSG00000022267 3702 02157 300163;300695;300696;300717;300718 REVIEWED 1344220 FHIT fragile histidine triad This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 p14.2 59710076 61212164 - 59735036 61237133 - 1302481;1580863;2289869;2289870;2289871;2289872;2289874;2289878;2289879;2289894;2289896;2289897;2289898;2289899;2289903;2289905;2289906;2301232;2301231;2301235;2301233;2298508;6480464;6907045 9671749;17548701;17539022;17467893;17164758;16115913;15705877;12379753;12231533;11839671;11751381;10930803;10873085;10530564;9569038;9462708;15591090;16608079;14670177;15154012;15574200 9576908;16217683;16189514;15998374;15935551;15929169;15902282;15835917;15798093;15674328;15633221;15569992;15489891;15489334;15480422;15384174;15361849;15328196;15246872;15231689;15219888;15182206;15080505;15080495;15073846;15060557;15044096;15026336;14991669;14760383;14719099;14719066;14702039;14675322;14660280;14630947;14569398;14566838;12969785;12964015;12926121;12893195;12890991;12839965;12833632;12800227;16231322;12698186;12697969;12627509;12529969;12483524;12477932;12452072;12419158;12362975;12353263;12177781;12169206;12119013;12090476;12067991;12057912;12048684;12007194;11915181;11902576;11891319;11809703;11788890;11768238;11731438;11085938;10706123;9824201;9583683;8794732;18319262;15007172;19622739;19621594;19452299;19419937;19418484;19414370;19401904;19339270;19286306;19267103;19240061;19130459;19096006;19004824;18985481;18953408;18690840;18618300;18608185;18595145;18567082;18517280;18494825;18426086;18378390;18367246;18338497;18338496;18299890;18247301;18221322;18162546;18097574;18091387;18077326;18038314;18006149;17846126;17712558;17694439;17671701;17609851;17596760;17393360;17382535;17374991;17373735;17359554;17348444;17328863;17143956;17142325;17137614;17119051;17029211;16990010;16963412;16864578;16773697;16763940;16740775;16733051;16699861;16698048;16570269;16533421;16513840;16359767;16344560;16242161;9537583;9366528;9323207;9290949;9261067;9012482;8824874;8661111;8640789;8598045;3864602;22393963;22843886;17037022;19913121;20628086;20689140;19760177;20606729;20690795;18029348;20864512;21182207;15949315;20510001;20458975;20399571;17380463;17562266;18821565;19434452;19502167;19730990;19751438;19931269;20060399;20082323;20083852;20083853;20095356;20125088;20306291;20379614;20417865;20435627;21258320;18476633;20864173;15906520;20814237;21223598;16739375;20060354;20552362;23019410;22932087;20622329;21095196;19728916;21557333;21830375;21404710;21617227;23131390;23724516;23102829;21685375;21870644;22425911;21711110;22760553;21928112;21668571;22379998;22419666;21241597;22747683;21988832;22578181;22952603;23049088;23209436;22766745;23470693;22613411;19620087;15313915;21679157;22315171 2272 A8K1A9;E9PBZ0;P49789;Q45QG9 ABBA01024348;ABBA01024349;ABBA01024350;ABBA01024351;ABBA01024352;ABBA01024353;ABBA01024354;ABBA01024355;ABBA01024356;ABBA01024357;ABBA01024358;ABBA01024359;ABBA01024360;ABBA01024361;ABBA01024362;ABBA01024363;ABBA01024364;ABBA01024365;AC093418;AC093556;AC096917;AC097357;AC098480;AC099536;AC099780;AC104164;AC132808;AC138071;AF023460;AF152363;AF152364;AF152365;AK127931;AK289824;AMYH01013231;AMYH01013232;AMYH01013233;AMYH01013234;AMYH01013235;AMYH01013236;AY625256;BC032336;BC057223;CH471055;DA239143;DQ120721;DQ416126;DQ666920;DQ666923;DQ768458;GN344061;NG_007551;NM_001166243;NM_002012;U06118;U39799;U39800;U39801;U40401;U46922;U76263;U76264;U76265;U76266;U76267;U76268;U76269;U76270;U76271;U76272;U85047;U88866 AAA99013;AAB52539;AAB53793;AAB84098;AAH32336;AAT37530;AAZ23623;ABD93871;ABG02273;ABG02275;ABG81420;ABM82501;ABM85695;BAF82513;CAY55966;EAW65393;EAW65394;NP_001159715;NP_002003;P49789 Hs.655995 1336292;1336789;1338136;1652129;1652242;1657035;1668820;1705296;1705456;1706062;1706600;1706916;1715691;1719293;1720453;1720743;1728729;1728743;1731491;1731493;1734314;1738471;1749781;1761133;1769060;1771094;1772555;1776877;1784918;1850364;1852758;1852835;2081032;2111912;2111914;2111916;2111928;2111930;2112004;2112730;2112732;2112734;2112736;2112738;2112740;2112742;2113000;2113028;2113030;2113032;2113034;2113036;2113038;2113040;2113042;2113044;2113046;2113052;2113054;2113056;2113068;2113070;2113072;2113074;2113186;2113188;2113190;2113192;2113194;2113196;2113198;2113200;2113202;2118387;2127821;2144673;2148853;2154318;2166515;2171460;2183043;2183485;2185682;2187787;5014740;7184792;7186254 AFMA285ZB5;D17S610;D3S1234;D3S1300;D3S1480;D3S1481;D3S2757;D3S2977;D3S2984;D3S3136;D3S3155;D3S3356;D3S3367;D3S3378;D3S3424;D3S3631;D3S4091;D3S4092;D3S4093;D3S4102;D3S4103;D3S4260;D3S4430;D3S4431;D3S4433;D3S4434;D3S4436;D3S4437;D3S4438;D3S4459;D3S4460E;D3S4461E;D3S4462E;D3S4463E;D3S4464E;D3S4465E;D3S4466E;D3S4467E;D3S4468E;D3S4469E;D3S4471;D3S4472;D3S4473;D3S4474;D3S4477;D3S4478;D3S4479;D3S4481;D3S4482;D3S4483;D3S4485;D3S4486;D3S4487;D3S4488;D3S4489;D3S4490;G49403;G49406;G59179;G59345;G69476;L18045;REN111724;RH119292;RH123369;RH16423;RH36473;RH46243;SHGC-111527;SHGC-13229;SHGC-145137;SHGC-33999;SHGC-58369;SHGC-77038;SHGC-77051;SHGC-77059;SHGC-78605;SHGC-80066;SHGC-80947;SHGC-82698;SHGC-83813;SHGC-86352;STS-AA004994;STS-N70372;STS-T91564 AP3Aase;FRA3B AP3A hydrolase;OTTHUMP00000213128;OTTHUMP00000213224;OTTHUMP00000213225;bis(5'-adenosyl)-triphosphatase;diadenosine 5',5'''-P1,P3-triphosphate hydrolase;dinucleosidetriphosphatase;fragile histidine triad protein;tumor suppressor protein APPROVED protein-coding ENSG00000189283 3701 03096 601153 REVIEWED 1606090 FIBIN fin bud initiation factor homolog (zebrafish) 11 11 11 p14.2 27160280 27163286 + 26972204 26975210 + 27015628 27018634 + 6480464 11827452;17196583;16303743;12477932;19834535 387758 Q8TAL6 AA452778;AB236892;ABBA01060976;AC016450;AI755024;AK075535;AMYH01003456;BC026873;BQ882486;CB962364;CH471064;CS051379;D79377;NM_203371 AAH26873;BAC11678;BAF42654;CAI72184;EAW68292;NP_976249;Q8TAL6 Hs.712718 2172895;2173317 G17575;WI-15111 MGC24932 OTTHUMP00000231946;fin bud initiation factor homolog protein-coding ENSG00000176971 33747 17366 VALIDATED 1602333 FICD FIC domain containing 12 12 12 q24.1 108578435 108582764 + 107433181 107437510 + 108909051 108913380 + 6480464 15383276;9700202;12975309;12477932;19362538;21988832;23251661 11153 F8VZ74;H0YIR6;J3KP49;Q9BVA6 ABBA01053133;AC010206;AF049611;AK000014;AK026074;AMYH01004731;AY358992;BC001342;BC064629;CH471054;NM_007076 AAC26847;AAH01342;AAQ89351;ABM82713;ABW03426;EAW97813;EAW97814;EAW97815;NP_009007;Q9BVA6 Hs.661891 2109419 HYPE__6623 HIP13;HYPE;MGC5623;UNQ3041 AMPylator FICD;FIC domain-containing protein;HIP-13;Huntingtin interacting protein E;OTTHUMP00000241562;adenosine monophosphate-protein transferase FICD;fic S-phase protein cell division homolog;huntingtin interacting protein 13;huntingtin interactor protein E;huntingtin yeast partner E;huntingtin-interacting protein 13;huntingtin-interacting protein E protein-coding 18416 13723 VALIDATED 1315466 FHOD1 formin homology 2 domain containing 1 This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. [provided by RefSeq, Jul 2008] 16 16 q22 65820793 65838926 - 67263292 67281425 - 1580863;6480464 12477932;11590143;14667819;15231747;10352228;18239683;17909294;17013756;16361249;16112087;15878344;15642356;15489334;15302935;15146197;15138285;15095401;15051728;15010865;14576350;12677009;12665801;12665555;21106951;18694941;18786395;18029348;20936779;23383273;22490440;15604093;18624398;21605332;21139048;22144583 29109 B4DVN5;H3BVE7;J3KT53;J3KTH7;J3QR24;Q9Y613 AA609867;AB041046;AB209584;ABBA01025432;ABBA01025433;AC040160;AF113615;AK025992;AK301157;AK304232;AMYH01007745;AY192154;BC033084;CH471092;CN302043;NG_029672;NM_013241 AAD39906;AAH33084;AAO38757;BAD06250;BAD92821;BAG62747;BAG65101;EAW83109;EAW83110;EAW83111;EAW83112;EAW83113;NP_037373;Q9Y613 Hs.95231 1679912;1680138;1697856;2191767 MARC_7229-7230:996687665:1;RH102455;RH79964;RH80137 FHOS FH1/FH2 domain-containing protein 1;OTTHUMP00000174818;formin homolog overexpressed in spleen 1;formin homology 2 domain-containing protein 1 APPROVED protein-coding ENSG00000135723 17905 06049 606881 REVIEWED 1316022 FHL5 four and a half LIM domains 5 The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2009] 6 6 q16.1-q16.3 97117156 97171233 + 97010424 97064512 + 6480464 15489334;20471030;20488182;17368652;16713569;16687568;16189514;15761153;15610731;22683712;14702039;14574404;12493914;12477932;12039695;11420126;11327716;11046156;10086359;8125298;19913121;20628086;20378615;20211142;22319020;23127979 9457 Q5TD97 ABBA01014524;AF278541;AI425084;AI784680;AK057611;AK058175;AK223539;AK314608;AL132776;AMYH01016528;BC011015;BC021723;BC029490;CH471051;CS300692;DB446146;NM_001170807;NM_020482 AAF85978;AAH21723;AAH29490;ABM84588;ABM86580;BAD97259;BAG37178;BAG51940;CAK32356;EAW48503;EAW48504;EAW48505;NP_001164278;NP_065228;Q5TD97 Hs.632608 1684638 RH92682 ACT;FLJ33049;KIAA0776;RP3-393D12.2;dJ393D12.2 1700027G07Rik;FHL-5;LIM protein ACT;OTTHUMP00000016879;OTTHUMP00000016880;activator of CREM in testis;activator of cAMP-responsive element modulator (CREM) in testis;activator of cAMP-responsive element modulator in testis;four and a half LIM domains protein 5 APPROVED protein-coding ENSG00000112214 17371 05497 605126;613101 REVIEWED 1317798 FIGN fidgetin 2 2 2 q24.3 158074075 158202502 - 164172364 164300759 - 164464118 164592513 - 6480464 21145461;22672901;19240061;15815621;14702039;11017077;19680635;19913121;20628086;21572416;21909110 55137 B8ZZS6;Q5HY92 ABBA01004901;ABBA01004902;ABBA01004903;AC092684;AC093727;AK001267;AK025747;AK125324;AMYH01011218;BX649105;NM_018086 AAI48650;AAI56959;AAX81992;ACE86806;ACE87493;BAA91590;BAB15231;BAG54182;CAI45980;NP_060556;Q5HY92 Hs.593650 1648660;1703424;1732627;1763857;1787676;2107097;2152517 AFMa081we1;D5S1381;FIGN__6723;RH69236;SHGC-147520;SHGC-156154;SHGC-68802 OTTHUMP00000082689;fidgetin protein-coding 13285 07287 605295 VALIDATED 1603328 FIGNL2 fidgetin-like 2 12 12 12 q13.13 51013783 51018315 - 50497943 50502475 - 52211676 52225701 - 6480464 16541075;11017077;8889548 401720 A6NMB9;Q6ZP58 ABBA01031617;AC068987;AK129980;AMYH01004468;BM676965;NM_001013690 A6NMB9;AAI56213;BAC85267;NP_001013712 Hs.648218 putative fidgetin-like protein 2;similar to fidgetin protein-coding 13287 18433 PROVISIONAL 731830 FIGF c-fos induced growth factor (vascular endothelial growth factor D) The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011] X X p22.31 15273639 15312498 - 15363713 15402535 - 1580863;704404;1334463;2298727;2315478;2315479;2315480;2315475;6480464;6484113;6907045 15563310;16633338;18343598;17970053;17951197;19589137 9479493;9684805;19301310;19265133;19117016;19096126;19074006;18941249;18717190;18609713;18564921;18561194;18512120;18416461;18199540;17970036;17931169;17926187;17917969;17676294;17442484;17242158;17034294;16924525;16816121;16624815;16570043;16467091;16152591;16049374;15803188;15701844;15693535;15623620;15590642;15489334;12963694;12920128;12759540;12714562;12610509;12576440;12477932;10542248;9435229;9205122;8876195;8125298;21474827;20651394;20450586;20673868;20672317;17222375;18636361;18983460;19226617;19275959;19462898;19629892;19717640;19730683;19744460;20096685;20143921;20179233;20237496;20452482;19821158;20626397;16344560;20448355;21315726;21515745;19771906;22535492;22552325;21483160;21520987;18171601;21387130;21319951;22326461;22071224;22383980;22545097;11279005;23054001;22326635;21781145;22581182;22513045;23404505;22906075 2277 O43915;Q53FX1 ABBA01071294;ABBA01071295;ABBA01071296;AC095351;AJ000185;AK223160;AK313173;AMYH01022105;AMYH01022106;BC027948;CH471074;CQ858318;CS023802;CS037005;CS067232;CS148545;CS172369;CS172815;CS367410;D89630;DA587496;FB510795;HC040689;NG_012509;NM_004469;U69570;Y12863;Y12864;Y12865;Y12866;Y12867;Y12868;Y12869;Y12870 AAH27948;BAA24264;BAD96880;BAG35990;CAA03942;CAA73370;CAA73371;CAH23420;CAI59113;CAI63839;CAI84579;CAJ29849;CAJ32892;CAJ32904;CAL32762;CAV32972;CBH30537;EAW98885;NP_004460;O43915 Hs.11392 1666960;1687435;1699560;1739193;1795838;1846696;2109659;2149250;2177890 D8S1556;FIGF_1558;PIR_8825;RH103380;RH91522;SHGC-34929;STS-H69335;STS-T64149;STS-Z40756 VEGF-D;VEGFD OTTHUMP00000022960;c-fos-induced growth factor;vascular endothelial growth factor D APPROVED protein-coding ENSG00000165197 3708 02102 300091 REVIEWED 6481057 FILIP1LP1 filamin A interacting protein 1-like pseudogene 1 100874347 AL139184 pseudo 39730 1342783 FIM1 Friend-murine leukemia virus integration site 1 homolog 1300187 2921036 2278 3709 1351521 FIM3 Friend-murine leukemia virus integration site 3 homolog 1300187 2921036 2279 3710 1353732 FIBP fibroblast growth factor (acidic) intracellular binding protein Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62975116 62979917 - 65407787 65412586 - 65651211 65656010 - 1580863;6480464 17353931;9806903;17497037;15489334;12477932;12145206;11509569;11104667;8125298;16169070;19913121;20628086;21832049;21900206;21139048;21890473;21906983;21963094;23000965;23128233 9158 E9PJW6;E9PSD3;H0YCE7;O43427 ABBA01024098;AF010187;AF171944;AF171945;AF171946;AF250391;AF250392;AI925637;AK223438;AK289562;AK293882;AK296571;AK299159;AK309974;AK315976;AMYH01003727;AP001201;AP006287;BC014388;BC017448;CD109589;CH471076;CR456749;DQ388430;NM_004214;NM_198897 AAC97140;AAD51694;AAD51695;AAD51696;AAG01396;AAG01397;AAH14388;AAH17448;ABD48957;ABW03566;ABW03878;BAD97158;BAF82251;BAG57271;BAG59191;BAG61207;BAH14347;CAG33030;EAW74465;EAW74466;EAW74467;NP_004205;NP_942600;O43427 Hs.7768 1738077;5022578;5024528;5091331;5122078 D11S3700;D11S4749;D1S1423;RH11778;SGC31923 FGFIBP;FIBP-1 FGF-1 intracellular-binding protein;OTTHUMP00000234231;OTTHUMP00000234232;OTTHUMP00000234233;aFGF intracellular-binding protein;acidic fibroblast growth factor intracellular-binding protein APPROVED protein-coding ENSG00000172500 3705 08492 608296 REVIEWED 1322801 FIG4 FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008] 6 6 q21 110119161 110253327 + 110012424 110146634 + 6480464;7240710 17556371;19240061;21705420;19118816;18950639;17572665;16344560;15489334;14574404;12477932;11274189;9039502;8889548;8125298;20630877;19037259;19820697;19840946;20472325;23623387;21906983;20301623;20301641;22318606;22053931 9896 F5H8L9;H0Y6G7;Q5JRV4;Q5TCS4;Q5TCS5;Q92562 AA815086;AA946705;ABBA01026122;ABBA01026123;ABBA01026124;AI476769;AK222732;AK291671;AK293422;AL133472;AL512303;AMYH01016586;BC041338;BM016965;BU683891;CH471051;D87464;DA811740;NG_007977;NM_014845 AAH41338;BAA13403;BAD96452;BAF84360;BAG56929;EAW48332;NP_055660;Q92562 Hs.529959 1646071;1714219;1720705;1761587 D6S2073;G59323;RH119720;SHGC-145585 ALS11;CMT4J;KIAA0274;RP1-249I4.1;SAC3;YVS;dJ249I4.1;hSac3 FIG4 homolog, SAC domain containing lipid phosphatase;FIG4 homolog, SAC1 domain containing lipid phosphatase;OTTHUMP00000016976;SAC domain-containing protein 3;Sac domain-containing inositol phosphatase 3;phosphatidylinositol 3,5-bisphosphate 5-phosphatase;polyphosphoinositide phosphatase APPROVED protein-coding ENSG00000112367 16873 11073 216340;609390;611228;612577 REVIEWED 1602165 FIGLA folliculogenesis specific basic helix-loop-helix This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009] 2 2 p13.3 70857950 70871283 - 71004442 71017775 - 7240710 15044608;18502569;18499083;15489334;12489526;12477932;12468641;16143663;17305537;19258411;19610175 344018 Q6QHK4 ABBA01075541;AC007395;AMYH01010425;AY541030;BC039536;CH471053;NG_013044;NM_001004311 AAI46288;AAI48799;AAS48452;EAW99795;EAW99796;EAW99797;NP_001004311;Q6QHK4 Hs.407636 FIGALPHA;POF6;bHLHc8 OTTHUMP00000203910;class C basic helix-loop-helix protein 8;factor in the germline alpha;folliculogenesis-specific basic helix-loop-helix protein;transcription factor FIGa APPROVED protein-coding ENSG00000183733 24669 12279 608697;612310 REVIEWED 1347231 FILIP1 filamin A interacting protein 1 6 6 6 q14.1 76411158 76596783 - 76074520 76260216 - 76017800 76203496 - 6480464 16381901;15489336;15302935;14702039;14574404;12055638;11230166;11076863;10574462;12477932;21832049;21784850;23087206;22505724 27145 Q05C39;Q7Z7B0 AB033101;AB086011;ABBA01040356;ABBA01040357;ABBA01040358;AK001570;AK027705;AK097021;AK290232;AL356057;AL445465;AL589649;AL832009;AMYH01016438;AMYH01016439;BC136443;BC136444;BX647178;CH471051;NM_015687 AAI36444;AAI36445;BAA86589;BAA91763;BAB55310;BAC04928;BAC77067;BAF82921;CAD89912;CAL37833;CAL38276;EAW48737;EAW48738;EAW48739;NP_056502;Q7Z7B0 Hs.696158 1336263;1654177;1695456;1766649;1853453;2123074;2160522;7186297 B319ZF5;D6S2011;D6S2140;D6S456;G17073;SHGC-149943;SHGC-68578 FILIP;KIAA1275 OTTHUMP00000016755;OTTHUMP00000016756;filamin-A-interacting protein 1 protein-coding ENSG00000118407 21015 09533 607307 VALIDATED 1316113 FIGNL1 fidgetin-like 1 7 7 7 p12.1 50576751 50583008 - 50479325 50485582 - 50511831 50518088 - 6480464 19058789;16344560;14702039;12853948;12690205;12477932;21102463;22939629;19471022;21890473 63979 C9JHJ4;C9JKI6;C9JP37;C9JSC4;C9JTB2;C9JTG6;Q6PIW4 AACC02000075;ABBA01011801;AC018705;AK023142;AK023411;AK027537;AK308136;AL834387;AMYH01017245;BC027856;BC051867;CH236955;CH471128;DA798223;DA812999;DB067077;NM_001042762;NM_022116 AAH51867;AAS01996;ACE86986;BAB14426;BAB14567;BAG51338;CAD39050;EAL23899;EAW60975;EAW60976;NP_001036227;NP_071399;Q6PIW4 Hs.137516 1699920;2169822 D7S1606;RH103568 OTTHUMP00000159582;OTTHUMP00000209011;OTTHUMP00000209012;OTTHUMP00000209013;OTTHUMP00000209014;OTTHUMP00000209015;OTTHUMP00000209016;OTTHUMP00000209017;OTTHUMP00000209018;fidgetin-like protein 1 protein-coding ENSG00000132436 13286 10958 VALIDATED 1604834 FILIP1L filamin A interacting protein 1-like 3 3 3 q12.1 97942485 98223977 - 101034678 101316039 - 99551988 99833349 - 6480464 8314147;19270026;15935955;15342556;14702039;12477932;8125298;20635389;20379614;21832087;21784850;21693594;22863734;23455636 11259 C9JYJ6;H7C4M0;Q8IUM3 ABBA01061796;ABBA01061797;ABBA01061798;ABBA01061799;ABBA01061800;AC024938;AC069222;AC117419;AC129803;AC130887;AF329092;AF514867;AF514868;AF514869;AK096195;AK225855;AMYH01013357;AX776292;AX776294;AX776296;AX776298;AY642382;BC017987;BC020941;BC027860;BP233250;CH471052;EU531865;EU531866;NM_001042459;NM_014890;NM_182909;U53445 AAA98972;AAH20941;AAH27860;AAN16206;AAQ08177;AAQ08178;AAQ08179;AAV34207;ACB37436;ACB37437;CAE11726;CAE11727;CAE11728;CAE11729;EAW79833;EAW79834;NP_001035924;NP_055705;NP_878913;Q4L180 Hs.104672 1337933;1658071;1674834;1682840;1718683;1719297;1735120;1754775;1784880;2109245;2114256;2114350;2116934;2145674;5095004;5109281 D1S1425;D3S2419;D3S2791E;DOC1_9246;FILIP1L;RH123032;RH123371;RH16583;RH41998;RH48251;RH92520;SHGC-33580;SHGC-70123;SHGC-77163;STS-N32498;WI-8558 DOC-1;DOC1;GIP130;GIP130a;GIP130b;GIP130c;GIP90 130 kDa GPBP-interacting protein;90 kDa GPBP-interacting protein;GPBP-interacting protein 90;GPBP-interacting protein of 130 kDa;OTTHUMP00000213947;OTTHUMP00000213948;OTTHUMP00000213949;OTTHUMP00000213950;downregulated in ovarian cancer 1 81 kDa isoform;filamin A-interacting protein 1-like;protein down-regulated in ovarian cancer 1 protein-coding ENSG00000168386 24589 16832 612993 VALIDATED 1603355 FITM1 fat storage-inducing transmembrane protein 1 FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008] 14 14 14 q12 4465145 4466528 + 23670608 23671898 + 24600675 24602058 + 6480464 18160536;12477932;21832049 161247 A5D6W6 ABBA01061331;AL136295;AMYH01005610;BC042179;BC139911;BI114004;BQ574746;BX347190;CH471078;NM_203402 A5D6W6;AAI39912;EAW66107;NP_981947 Hs.128060 1697710 RH102373 FIT1;MGC46490 OTTHUMP00000164703;fat storage-inducing transmembrane protein 1;fat-inducing protein 1;fat-inducing transcript 1;similar to cg10671-like APPROVED protein-coding ENSG00000139914 33714 17312 612028 VALIDATED 1315413 FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008] 7 7 q22.1 100669613 100675091 - 100882893 100888371 - 1580863;6480464 12861026;16118244;16107562;14996942;14561759;18845145;18832378;18782765;18515060;17884824;17545159;17408615;16914522;16883569;16010987;15489334;15356267;15024001;14705031;14623186;12853948;12783892;12477932;10810093;17207965;20877624;20826455;20428767;21183955;16874301;18029348;19864424;20179104;20178365;21103663;21163940;22939629;23077178;21890626;18353969;22789569;21139048;21699783;21701560;22053931 51024 C9JXH1;F5H509;F5H8A8;F8WBT1;F8WD11;Q9Y3D6 ABBA01011339;ABBA01011340;AC006329;AF151893;AK310968;AK311665;AMYH01017751;BC003540;BC009428;BI836529;CH471197;NM_016068 AAD34130;AAH03540;AAH09428;AAP22366;ADQ32791;EAW50212;EAW50213;EAW50214;NP_057152;Q9Y3D6 Hs.423968 2124032 WI-11506 CGI-135;TTC11 FIS1 homolog;H_NH0132A01.6;OTTHUMP00000211474;TPR repeat protein 11;hFis1;mitochondrial fission 1 protein;tetratricopeptide repeat domain 11;tetratricopeptide repeat protein 11 APPROVED protein-coding ENSG00000214253 21689 12352 609003 VALIDATED 1314537 FJX1 four jointed box 1 (Drosophila) The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008] 11 11 11 p13 35786997 35789681 + 35596631 35598989 + 35639735 35642421 + 1580863;6480464 12477932;10568747;10072791;7647465 24147 Q86VR8 ABBA01060856;ABBA01060857;AJ245599;AK026069;AK098459;AK315015;AL135934;AMYH01003490;BC049171;BC071898;BF509837;CH471064;L37769;NM_014344 AAH49171;AAH71898;BAG37506;CAB53246;EAW68138;NP_055159;Q86VR8 Hs.39384 2109307;2149905 FJX1_9404;RH36354 FLJ22416;FLJ25593 OTTHUMP00000232571;four-jointed box protein 1;four-jointed protein homolog;putative secreted ligand homologous to fjx1 APPROVED protein-coding ENSG00000179431 17166 16897 612206 REVIEWED 1605920 FIZ1 FLT3-interacting zinc finger 1 This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 53143875 53152032 - 60794558 60802705 - 56102737 56110893 - 6480464 17141759;14702039;12566383;12477932;10409713 84922 K7EJE2;K7EQX6;K7ERP0;K7ES33;Q96SL8 AA864884;ABBA01020864;AC008735;AK027674;AK160385;AMYH01010003;BC020368;BC132777;BC136512;CH471135;NM_032836 AAI32778;AAI36513;BAB55286;BAD18728;EAW72391;EAW72392;NP_116225;Q96SL8 Hs.515617 2118637 WI-15141 FLJ00416;FLJ14768;ZNF798 flt3-interacting zinc finger protein 1;zinc finger protein 798 APPROVED protein-coding ENSG00000179943 25917 07870 609133 REVIEWED 1317034 FITM2 fat storage-inducing transmembrane protein 2 FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008] 20 20 20 q13.12 39643861 39648553 - 42368611 42373303 - 42935197 42939889 - 6480464 18160536;15489334;12477932;11780052;20877624;21139048;22158537 128486 Q8N6M3 ABBA01052636;AL117382;AMYH01011932;BC029662;BC130446;BC136640;CH471077;NM_001080472 AAI30447;AAI36641;EAW75929;NP_001073941;Q8N6M3 Hs.632269 1652847;1686959;1849240;5022578;5024039;5037552 A004C16;D16S325;D1S1423;D8S2279;RH79770;STS-Z40740 C20orf142;Fit2;MGC30135;dJ881L22.2 OTTHUMP00000031045;fat inducing transcript 2;fat storage-inducing transmembrane protein 2;fat-inducing protein 2;fat-inducing transcript 2 APPROVED protein-coding 16135 612029 PROVISIONAL 5133080 FKBP1A-SDCBP2 FKBP1A-SDCBP2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring FK506 binding protein 1A, 12kDa and syndecan binding protein (syntenin) 2 genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 20 p13 1290553 1373816 - 20967262 100528031 ABBA01053769;ABBA01053770;ABBA01053771;AK309026;AL109658;AL136531;AMYH01011663;BM925547;NR_037661 Hs.471933;Hs.657015 APPROVED miscrna ENSG00000234684 41997 VALIDATED 1319628 FIP1L1 factor interacting with PAPOLA and CPSF1 This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 4 4 q12 53938620 54020599 + 54243820 54326103 + 6480464;6907045 19118897;18987651;18706197;17591942;17377585;17299092;17261495;17081983;16964243;16690743;16502585;16381901;16189514;15767428;15489336;15489334;21145461;15302935;15284118;14749727;14702039;14630792;12842979;12808148;12660384;12477932;11230166;11076863;14729963;21399396;16055720;16159877;18029348;22990118;21628590;22447844;21818111;21906983;22446626;22523564;21832049;22939629;22944561;22113938;22505724 81608 H0Y8J4;H0Y8P7;Q96F80 ABBA01003391;AC058822;AC098821;AF161429;AK090938;AK123992;AK295737;AK300398;AK308145;AL136910;AMYH01014183;AY366510;BC011543;BC017724;BC024016;BC026724;BC052959;BC110383;CH471057;CQ834882;DN990103;NG_008644;NM_001134937;NM_001134938;NM_030917 AAF28989;AAH11543;AAH17724;AAH24016;AAH52959;AAI10384;AAQ88277;BAG58575;BAG62129;CAB66844;CAH05656;CAL37636;EAX05445;EAX05446;EAX05447;EAX05448;EAX05449;NP_001128409;NP_001128410;NP_112179;Q6UN15 Hs.624245 1647447;1665184;1739979;1775816;1848995;1848997;1857834;2219904;5037552;5109281 A001V35;D1S1425;D4S1106;D4S2783;D4S2897;D8S2279;G19694;LNX__6406;SHGC-67415;STS-R85294 DKFZp586K0717;FIP1;FLJ33619;Rhe;hFip1 FIP1 like 1;FIP1-like 1 protein;FIP1L1 cleavage and polyadenylation specific factor subunit;OTTHUMP00000158885;OTTHUMP00000218546;OTTHUMP00000218547;OTTHUMP00000218659;factor interacting with PAP;pre-mRNA 3'-end-processing factor FIP1;rearranged in hypereosinophilia APPROVED protein-coding ENSG00000145216 19124 09646 607686 REVIEWED 1351709 FKBP1AP1 FK506 binding protein 1A, 12kDa pseudogene 1 19 19 19 q13.43 55380138 55382320 - 63029641 63029958 - 58336648 58338830 - 1716149 2282 ABBA01020798;ABBA01020799;AC010522;AC010645;AI076645;AMYH01010030;M80196;M80201;NR_024162 Hs.720356 1652194;1688384;1748481 RH35863;RH68934;SHGC-32807 FKBP12;FKBP1P1 APPROVED pseudo 3714 INFERRED 1351220 FKBP1AP3 FK506 binding protein 1A, 12kDa pseudogene 3 13 13 13 q14.13 28135042 28138470 + 45977251 45977577 + 47079214 47082644 + 1716149 2284 ABBA01050991;AL138686;AMYH01005096;M80200;NG_006209 FKBP12;FKBP1P3 APPROVED pseudo 3716 VALIDATED 1343039 FKBP1AP2 FK506 binding protein 1A, 12kDa pseudogene 2 15 15 15 q24.1 50312988 50314541 - 73434433 73435986 - 73434443 73435806 - 1716149 2283 ABBA01038715;AC129980;AMYH01006773;M80197;M80202;NG_008623;NG_016965 FKBP12;FKBP1P2 APPROVED pseudo 3715 INFERRED 2301268 FKBP1C FK506 binding protein 1C 6 6 6 q12 62080819 62082397 + 63979310 63980909 + 63921352 63922927 + 642489 A8MSS1;Q5VVH2 ABBA01023966;AL450346;AMYH01016386;NG_008622 1688384;1740657;1748481;1788808 D20S1003;RH141052;RH68934;SHGC-32807 bA184C23.2 pseudo 21376 16899 INFERRED 1346929 FKBP1AP4 FK506 binding protein 1A, 12kDa pseudogene 4 3 3 3 q25.1 147592336 147593954 - 150664253 150664591 - 149180386 149182004 - 1716149;19913121;20628086 2285 ABBA01058943;AC108751;AMYH01013571;M80198;M80203;NG_006255 1748481 SHGC-32807 FKBP12;FKBP1P4 APPROVED pseudo 3717 INFERRED 1314619 FKBP11 FK506 binding protein 11, 19 kDa FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008] 12 12 12 q13.12 48110221 48113809 - 47602009 47605549 - 49315742 49319330 - 1580863;6480464 16596453;16344560;15489334;12477932;12036304 51303 E9PAR0;F8VU90;F8VXK0;H0YHM7;J3KN11;Q9NYL4 ABBA01031494;AC073610;AF238079;AK301455;AMYH01004436;AY358998;BC027973;BC048292;BE857354;CH471111;DA378205;NM_001143781;NM_001143782;NM_016594 AAF63478;AAH27973;AAH48292;AAQ89357;ABM82983;ABM86177;BAG62979;EAW58022;EAW58023;NP_001137253;NP_001137254;NP_057678;Q9NYL4 Hs.655103 1647965;2145884;5024756 G15997;RH80030;STS-N72137 FKBP19;MGC54182 19 kDa FK506-binding protein;19 kDa FKBP;FK506-binding protein 11;FKBP-11;FKBP-19;OTTHUMP00000243698;OTTHUMP00000243699;OTTHUMP00000243702;OTTHUMP00000243703;PPIase FKBP11;peptidyl-prolyl cis-trans isomerase FKBP11;rotamase APPROVED protein-coding ENSG00000134285 18624 11170 610571 VALIDATED 1319279 FKBP10 FK506 binding protein 10, 65 kDa The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009] 17 17 17 q21.2 36620309 36630813 + 37222727 37232995 + 39968962 39979469 + 1580863;6480464 18786928;16396496;16303743;15489334;14702039;12754519;12477932;12036304;11071917;20839288;16333983;19596235;20362275;22863883;21399973;21320693;21567934;22939629;20000738;22949511;21139048;22107750;23354471;22268729;22718341 60681 C9JPC3;H0Y827;K7ELI6;K7EM43;K7ESG6;Q658U4;Q8NAG5;Q96AY3;Q9H6J3 AB045981;ABBA01006450;AC091172;AF337909;AI095261;AK000690;AK025694;AK025874;AK074413;AK092042;AK092708;AK172811;AK296107;AL365371;AL832985;AMYH01008387;BC016467;BX537452;CH471152;NG_015860;NM_021939 AAH16467;AAM15770;ABM85920;ACE86703;ACE87387;BAB15220;BAB15266;BAB20974;BAC03954;BAD18781;BAG58857;CAD97695;CAH56332;EAW60767;EAW60768;EAW60769;EAW60770;NP_068758;Q96AY3 Hs.463035 1777457;1777459;1795840;2120666;2157373 A002C18;FKBP10_1478;G19926;RH66668;WI-19316 FKBP6;FKBP65;FLJ20683;FLJ22041;FLJ23833;OI11;OI6;PPIASE;hFKBP65 65 kDa FK506-binding protein;65 kDa FKBP;FK506-binding protein 10;FKBP-10;FKBP-65;OTTHUMP00000164742;OTTHUMP00000164743;PPIase FKBP10;immunophilin FKBP65;peptidyl-prolyl cis-trans isomerase FKBP10;rotamase APPROVED protein-coding ENSG00000141756 18169 09522 607063;610968 REVIEWED 1312480 FKBP15 FK506 binding protein 15, 133kDa 9 9 9 q32 86575708 86631259 - 114967621 115023462 - 115927800 115983641 - 6480464 16756961;16344560;12477932;9734811;19121306;18029348;20376207;23383273;22939629;19389623;21139048;21890473;22266860;22070227 23307 Q5T1M5 AB014574;ABBA01042691;AK301208;AK303074;AK307498;AK307507;AL449105;AL449305;AMYH01021669;BC009609;BC026048;BC077732;BQ646813;DA238568;DC321217;NM_015258 AAH09609;AAH77732;AAI66677;BAA31649;BAG62784;BAG64190;NP_056073;Q5T1M5 Hs.522351 1665127;1665129;1700186;1765243;2185766 A005R10;G20432;RH103708;SHGC-148733;WI-11800 FKBP133;KIAA0674;PPP1R76 133 kDa FK506-binding protein;133 kDa FKBP;FK506-binding protein 133kDa;FK506-binding protein 15;FKBP-133;FKBP-15;OTTHUMP00000021948;WAFL;WASP and FKBP-like;protein phosphatase 1, regulatory subunit 76 protein-coding ENSG00000119321 23397 VALIDATED 6484028 FKBP4P1 FK506 binding protein 4, 59kDa pseudogene 1 4 q26 119113882 119116050 - 100132656 ABBA01063872;AC110999;AMYH01014483;NG_008629 1856025;2133700 G11814;RH17746 pseudo 44038 INFERRED 1323300 FKBP14 FK506 binding protein 14, 22 kDa The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012] 7 7 7 p14.3 30042275 30055659 - 30019409 30032793 - 30050199 30066417 - 1580863;6480464 15489334;15340161;14702039;12975309;12690205;12477932;12036304;22675492;19862764;18457437;21900206;16344560;19189656;22265013;19322201 55033 F8WBZ0;H7C1Z9;Q9NWM8 AACC02000087;ABBA01056808;ABBA01056809;AC007285;AK000738;AK309552;AMYH01017145;AY358643;BC005206;CH471073;CR748502;DA166879;DB498479;JQ797475;NG_032173;NM_017946;NR_046478;NR_046479 AAH05206;AAQ89006;ABM83451;ABM86663;AFH08820;BAA91351;EAL24457;EAW93929;NP_060416;Q9NWM8 Hs.390838 1671019;1777542;2185048;5014740;5015404;5017433;5020946;5020948;5022578;5022588;5022651 D11S2921;D17S610;D1S1423;D5S1597E;G35510;GDB:3754616;L17705;L17971;RH65031;RH71181;STS-T76997 EDSKMH;FKBP22;FLJ20731;IPBP12 22 kDa FK506-binding protein;22 kDa FKBP;FK506-binding protein 14;FKBP-14;FKBP-22;OTTHUMP00000122625;PPIase FKBP14;peptidyl-prolyl cis-trans isomerase FKBP14;rotamase APPROVED protein-coding ENSG00000106080 18625 16898 614505;614557 REVIEWED 735951 FKBP1B FK506 binding protein 1B, 12.6 kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 p23.3 24126132 24140055 + 24272584 24286551 + 1580387;704404;2302075;2302065;2302077;2302073;6480464 15497458;17637193;19000375;17506935;18570278 19226252;7592869;10830164;17921453;11322937;17313373;17200109;16122887;15972811;15749201;15591045;15489334;14616768;12754204;12477932;12459180;12446682;12443530;11237759;10713512;9013543;7513996;15351706;20404344;20431056;19197348;22236651;22087651 2281 F8W6G9;G5E9U6;H7C0Y3;P68106 AB190793;ABBA01045101;AC008073;AF322070;AMYH01010164;BC002614;BC050998;BF969580;CH471053;D38037;HB868428;HC925837;L37086;NM_004116;NM_054033;S69800;S69815 AAB30684;AAB30685;AAC37581;AAH02614;AAK11191;AAY14663;BAA07232;BAE44300;CBF58189;CBU83624;EAX00768;EAX00769;EAX00770;NP_004107;NP_473374;P68106 Hs.709461 1656418;1774427;1797534 FKBP1B_2367;RH68268;SHGC-31628 FKBP12.6;FKBP1L;OTK4;PKBP1L;PPIase 12.6 kDa FK506-binding protein;12.6 kDa FKBP;FK506-binding protein 1-like;FK506-binding protein 12.6;FK506-binding protein 1B;FKBP-12.6;FKBP-1B;OTTHUMP00000116040;OTTHUMP00000116041;PPIase FKBP1B;calstabin 2;fk506 binding protein 1b;h-FKBP-12;immunophilin FKBP12.6;peptidyl-prolyl cis-trans isomerase FKBP1B;rotamase APPROVED protein-coding ENSG00000119782 3712 02795 600620 REVIEWED 737539 FKBP1A FK506 binding protein 1A, 12kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008] 20 20 p13 1297622 1321745 - 1349621 1373816 - 1580388;704404;2298922;2302074;6480464;6484113 9461216;12809600;17877381 12417722;11827452;1709302;7592869;17962721;16720724;11322937;12761501;7518616;1696686;18346205;2477715;1701173;1374404;18413763;18029417;17872463;17397867;16908189;16410343;16122887;16036432;15992823;15489334;15199065;14970260;12850152;12812497;12704193;12665801;12604780;12600203;12477932;10358090;11438723;11279144;11245643;11237759;11171121;11164950;10852943;10656803;10515881;9871618;9346894;8955134;8662507;8521476;7821789;7682113;7678431;7543369;7541044;7541038;7529739;11780052;11598113;1930186;1716149;1713687;1709363;1709301;1695378;1375171;1281998;12181673;9546659;11960000;9663660;14679009;9334222;7791754;16278292;15796538;15467718;15284440;15268862;7822316;15514157;15761148;15734648;19913121;20628086;21047202;15146197;8889548;10089303;19414059;8524402;9880681;15908921;22990118;21832049;22939629;21652707;21139048;21890473;22100703;22103444;19322201;22236651;22318606;19592636;19805454;23000965;23585572;23824909;12443530;22505724 2280 P62942;Q0VDC6;Q1JUQ5;Q5W0X3 AA731598;AB190794;AB241123;AB241124;AB241125;ABBA01053771;AF205192;AI753994;AL109658;AL136531;AMYH01011663;BC001925;BC005147;BC119732;BC119733;BT007066;BU540706;CA450516;CH471133;CN426120;CR407613;CR542168;CS081479;CX870892;D28444;M34539;M80199;M80204;M92423;M93060;NM_000801;NM_001199786;NM_054014;X52220;X55741 AAA35844;AAA58472;AAA58476;AAF17608;AAH01925;AAH05147;AAI19733;AAI19734;AAP35729;ABM82745;BAA05810;BAE44301;BAE94235;BAE94236;BAE94237;CAA36462;CAA39272;CAG28541;CAG46965;CAI95951;EAX10633;EAX10634;EAX10635;NP_000792;NP_001186715;NP_463460;P62942 Hs.471933;Hs.700839 1653597;1655308;1688384;1740657;1748481;1788808;1846548;2126829;5016921 D20S1003;RH141052;RH40885;RH68384;RH68934;SGC33430;SGC35429;SHGC-32807;STS-X52220 FKBP-12;FKBP-1A;FKBP1;FKBP12;FKBP12C;PKC12;PKCI2;PPIASE 12 kDa FK506-binding protein;12 kDa FKBP;FK506 binding protein12;FK506-binding protein 1;FK506-binding protein 12;FK506-binding protein 1A (12kD);FK506-binding protein, T-cell, 12-kD;FKBP-1A;FKBP12-Exip3;OTTHUMP00000029977;OTTHUMP00000029978;OTTHUMP00000029979;OTTHUMP00000029980;PPIase FKBP1A;calstabin 1;calstabin-1;fk506-binding protein 1a;immunophilin FKBP12;peptidyl-prolyl cis-trans isomerase FKBP1A;protein kinase C inhibitor 2;rotamase APPROVED protein-coding ENSG00000088832 3711 01741 186945 REVIEWED 1312751 FKBP3 FK506 binding protein 3, 25kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008] 14 14 q21.2 44654859 44674272 - 45584802 45603732 - 1580863;6480464 1374240;18029348;19166840;15489334;15146197;12477932;12392168;11532945;8125298;8012384;7689229;1532945;1376117;1375932;12920132;19913121;20628086;22939629;15840729;19953087;21139048;21890473;22863883;22990118 2287 G3V5F2;Q00688 ABBA01018049;ABBA01018050;ABBA01018051;AK222993;AK311915;AL121809;AMYH01005702;BC016288;BC020809;BI598048;BT006904;CH471078;CN315192;M96256;NM_002013;Z58738 AAA58471;AAH16288;AAH20809;AAP35550;ABM81660;ABM82058;ABM84832;ABM85237;BAD96713;BAG34856;EAW65785;NP_002004;Q00688 Hs.509226 1654711;1684210;1746341;2177907 G36144;G64679;RH91677;SHGC-31929 FKBP-25;FKBP-3;FKBP25;PPIase 25 kDa FK506-binding protein;25 kDa FKBP;FK506-binding protein 25, T-cell;FK506-binding protein 3 (25kD);FKBP-3;OTTHUMP00000178918;PPIase FKBP3;immunophilin FKBP25;peptidyl-prolyl cis-trans isomerase FKBP3;rapamycin binding protein;rapamycin-selective 25 kDa immunophilin;rotamase APPROVED protein-coding ENSG00000100442 3719 01743 186947 REVIEWED 1349147 FKBP2 FK506 binding protein 2, 13kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] 11 11 11 q13.1-q13.3 61335294 61338488 + 63764989 63768262 + 64008413 64011607 + 1580863;6480464 1713687;16713569;15489334;12606707;12477932;9531554;8889548;8373365;7526846;7505249;1281998;16169070;19913121;20628086;15353007;22990118;18624398;21139048;20661446 2286 F5H0N4;P26885;Q53XJ5 ABBA01003291;AMYH01003703;AP001453;AW450265;BC003384;BC091475;BT009861;BU682774;CH471076;CR407636;HB868426;HC925835;L18980;M65128;M75099;NM_001135208;NM_004470;NM_057092 AAA36563;AAA58473;AAH03384;AAH91475;AAP88863;ABM85057;CAG28564;CBF58188;CBU83623;EAW74224;EAW74225;NP_001128680;NP_004461;NP_476433;P26885 Hs.227729 1649068;1791161 FKBP2;fkbp2sts3 FKBP-13;PPIase 13 kDa FK506-binding protein;13 kDa FKBP;FK506-binding protein 2 (13kD);FKBP-2;OTTHUMP00000236930;OTTHUMP00000236931;OTTHUMP00000236933;PPIase FKBP2;immunophilin FKBP13;peptidyl-prolyl cis-trans isomerase FKBP2;proline isomerase;rapamycin-binding protein;rotamase APPROVED protein-coding ENSG00000173486 3718 01742 186946 REVIEWED 1350622 FKBP9L FK506 binding protein 9-like 7 7 p11.1 55716261 55739754 - 55748767 55772260 - 737633 12477932 9847074;21906983 360132 Q75LS8 ABBA01006030;AC091812;AK289438;AK312981;AMYH01017273;BC011872;BM014562;BM041005;NR_003949;NR_027339;NR_027340;NR_027342 AAQ93369;BAF82127;BAG35818 Hs.446691 1658523;1687596;1725195;1795846;1852945;1853700;2116799;2154200;5037552 A006P36;A007C44;D8S2279;FKBP9_1476;G17146;RH124071;RH41952;RH48546;WI-14269 MGC20531 pseudo ENSG00000176826 23568 16900 VALIDATED 1318976 FKBP6 FK506 binding protein 6, 36kDa The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 q11.23 72380236 72410577 + 72742155 72772641 + 1580863;1582483;1582485;6480464 9782077;12764197 19001379;18529014;17307919;16983454;16344560;16227348;16189514;15696470;15489334;12477932;11322937;10631136;20378615;22610502;21044950;15770126 8468 C9JM01;F8WD36;F8WD38;G3V0I2;O75344 AA909474;ABBA01063963;AC005049;AC073841;AC211540;AF038847;AF447060;AK302121;AK310255;AMYH01017531;BC036817;BI461016;CH471200;DB033483;DB450796;DB525126;HC006956;NG_023242;NM_001135211;NM_001281304;NM_003602 AAC64249;AAH36817;AAP97324;ABW03338;ABW03684;ACT64473;ACT64474;BAG63499;CBH19283;EAW69684;EAW69685;EAW69686;NP_001128683;NP_001268233;NP_003593;O75344 Hs.661266 1668832;2189269;2217332 FKBP6_2850;Fkbp6;GDB:1318639 FKBP36;MGC87179;PPIase 36 kDa FK506-binding protein;36 kDa FKBP;FK506-binding protein 6;FK506-binding protein 6 (36kD);FKBP-36;FKBP-6;OTTHUMP00000197725;OTTHUMP00000210647;OTTHUMP00000210648;OTTHUMP00000210651;PPIase FKBP6;immunophilin FKBP36;peptidyl-prolyl cis-trans isomerase FKBP6;peptidylprolyl cis-trans isomerase;rotamase APPROVED protein-coding ENSG00000077800 3722 05326 604839 REVIEWED 1313236 FKBP7 FK506 binding protein 7 The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008] 2 2 2 q31.2 172931277 172946242 - 179038267 179051568 - 179328391 179343355 - 1580863;6480464 16344560;15489334;12975309;12477932;12036304;9806833;11162551;18029348;22939629;21151833 51661 F8WBF2;F8WCU2;F8WE12;H7BZJ4;Q9Y680 AA447628;ABBA01062244;ABBA01062245;AC009948;AF092137;AF100751;AK292145;AK299215;AMYH01011305;AY353086;AY359015;BC009711;BF210667;BQ003190;BT007122;CH471058;DA020387;NM_001135212;NM_181342 AAD40379;AAD43015;AAH09711;AAP35786;AAQ57208;AAQ89374;AAX88883;ACE86645;ACE87327;BAF84834;BAG61254;EAX11027;EAX11028;EAX11029;EAX11030;EAX11031;EAX11032;NP_001128684;NP_851939;Q9Y680 Hs.410378 1795844;2121410 FKBP7_1290;RH46430 FKBP23;MGC9420;PPIase 23 kDa FK506-binding protein;23 kDa FKBP;FK506-binding protein 23;FK506-binding protein 7;FKBP-23;FKBP-7;OTTHUMP00000163395;OTTHUMP00000225033;PPIase FKBP7;peptidyl-prolyl cis-trans isomerase FKBP7;rotamase APPROVED protein-coding ENSG00000079150 3723 08451 607062 REVIEWED 1602215 FKSG2 tumor protein, translationally-controlled 1 pseudogene 8 8 8 p11.2 35696180 35697311 + 36865155 36865986 + 36745909 36747040 + 6480464 23251661 59347 Q9HAU6 ABBA01023575;ABBA01023576;AC138136;AF300871;AMYH01018647;NG_012761 AAG17927;Q9HAU6 APPROVED pseudo 16902 INFERRED 733402 FKBP4 FK506 binding protein 4, 59kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008] 12 12 p13.33 2774414 2783385 + 2904108 2914589 + 1580863;4892102;5144125;6480464 18451092;16610357 18654987;22074005;1376003;9660753;2378870;1279700;18029348;19254810;19199039;18988805;18162540;17717070;17343741;16964243;16916647;16873445;16352746;16344560;16341674;15831525;15761153;15591061;15509512;15489334;15159550;15133031;12782134;12606580;12603528;12477932;11751894;11583998;11533160;11322937;11278753;11164950;10714679;10051602;9501323;9405642;9392437;8955134;8889548;8341706;1383226;1371107;9222609;17353931;22279148;22586326;20442138;12604780;19197348;19545546;19584157;19945390;20133804;20376328;20029029;20562859;20726698;21170051;20932935;21319273;22863883;11350175;17893145;22939629;19875381;21139048;21890473;21903422;21906983;7887964;22233767;20661446;22678819;22053931;22190034;22505724;22797925;22944692;22921020 2288 F5H120;F5H1U3;H0YFG2;H0YG86;Q02790 ABBA01048800;ABBA01048801;AC005841;AK024694;AK313918;AMYH01004181;AMYH01004182;BC001786;BC002887;BC007924;BQ083177;BQ446607;BU685040;CH471116;DA392592;M88279;NM_002014 AAA36111;AAH01786;AAH07924;ABM84594;ABM86726;BAG36639;EAW88889;EAW88890;NP_002005;Q02790 Hs.524183;Hs.713721 1856025;2133700;2134083;2165610;2175865;2176347 D12S1077;D12S1866;G11814;RH17746;RH67908;WI-15391 FKBP51;FKBP52;FKBP59;HBI;Hsp56;PPIase;p52 51 kDa FK506-binding protein;FK506-binding protein 4 (59kD);HSP binding immunophilin;OTTHUMP00000115497;T-cell FK506-binding protein, 59kD;fk506 binding protein 4 (59 kda);peptidyl-prolyl cis-trans isomerase FKBP4;peptidylprolyl cis-trans isomerase;rotamase APPROVED protein-coding 3720 11794 600611 REVIEWED 1353952 FKBPL FK506 binding protein like The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33663523 33665106 - 32204462 32206045 - 32096484 32098067 - 1580863;6480464 16169070;10521921;18669603;15664193;12477932;10866283;9056895;19851445;20103631;20210997;21832049;22694956 63943 Q9UIM3 ABBA01038104;AF139374;AK027119;AK291418;AL662828;AL662884;AMYH01016232;BC004168;BC011966;CH471081;CR457374;CR753803;CR925796;NM_022110;U89337 AAF04864;AAF67785;AAH04168;AAH11966;ABM82682;ABM85864;BAB15663;BAF84107;CAG33655;EAX03586;EAX03587;NP_071393;Q9UIM3 Hs.520042 1687938 RH92380 DIR1;NG7;WISP39 FK506-binding protein like;FK506-binding protein-like;OTTHUMP00000029170;WAF-1/CIP1 stabilizing protein 39 APPROVED protein-coding ENSG00000204315 13949 16901 REVIEWED 1319338 FKBP5 FK506 binding protein 5 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 6 6 p21.31 35649345 35764692 - 35541362 35696360 - 1580863;5144125;6480464;7240710 16610357 11076863;9001212;9660753;19365399;19282465;19254810;19233472;19199039;19195790;19095219;18702710;18654788;18597649;18443959;18349090;18320068;18291582;18191112;17960574;17721930;17081296;16421106;16381901;16344560;16210365;16088328;15591061;15565110;15489336;15489334;15302935;15089760;14743216;12746298;12538866;12477932;12351405;11751894;11350175;11322937;11230166;18180755;9125197;8603045;8125298;7693698;7688746;7542743;9222609;22279148;21112363;20661446;20709156;20726698;20562859;20849924;21041608;21036922;17643375;19545546;19560279;19615732;19676097;19696786;19732725;19750552;19924111;20008943;20023700;20047716;20048054;20071522;20090668;20093418;20226536;20346245;20376328;20379614;20393453;20398908;20547006;21170051;21832049;22459275;21730050;21483441;21636895;21440309;21508514;21536970;23324805;23455922;22863883;18029348;14676191;21865530;21917492;21890473;21906983;22134958;20605778;21903422;21907973;22213790;22590527;21654733;22137507;21360678;21788965;23000965;21789663;22548329;23062294;23407841;19875381;22825419;22979952;22420783;22234543;20697350;22505724;22891251;23201972 2289 B7Z7Z8;Q13451;Q2TA84 AB209893;ABBA01038238;ABBA01038239;ABBA01038240;ABBA01038241;AF194172;AK222807;AK302704;AK303356;AK312422;AL033519;AL122066;AL157823;AL590400;AMYH01016267;AW182642;BC042605;BC111050;BX647390;CH471081;DB066174;HM245391;NG_012645;NM_001145775;NM_001145776;NM_001145777;NM_004117;U42031;U71321;X97300 AAA86245;AAC51189;AAH42605;AAI11051;AAL54872;BAD93130;BAD96527;BAG35332;BAH13784;BAH13948;CAL38619;EAX03841;EAX03842;NP_001139247;NP_001139248;NP_001139249;NP_004108;Q13451 Hs.407190 1668895;1760223;1767598;1777086;1795842;2129015;2148171;2161469;2177535;5015619;5022578;5037552;5117897;7183725 D11S3114;D1S1423;D6S1111E;D6S1645;D8S2279;FKBP5_1361;GDB:631813;RH47153;SGC32907;SHGC-132511;SHGC-32701;SHGC-33930;STS-N39562;STS-R01175 AIG6;FKBP51;FKBP54;MGC111006;P54;PPIase;Ptg-10 51 kDa FK506-binding protein 5;51 kDa FKBP;54 kDa progesterone receptor-associated immunophilin;FF1 antigen;FKBP-5;FKBP-51;HSP90-binding immunophilin;OTTHUMP00000016268;PPIase FKBP5;T-cell FK506-binding protein;androgen-regulated protein 6;peptidyl-prolyl cis-trans isomerase FKBP5;peptidylprolyl cis-trans isomerase;rotamase APPROVED protein-coding ENSG00000096060 3721 04019 602623;608516 REVIEWED 1605023 FKSG83 FKSG83 6 6 6 p22.1 28898591 28899755 + 27400557 27401721 + 27292578 27293742 + 12477932 83954 Q3KNW7;Q7LBC9 AF336874;AF352327;AL021808;BC107050;CH471081;NM_032030 AAI07051;AAK21300;AAK32715;EAX03091;EAX03092;NP_114419;Q3KNW7;Q7LBC9;Q9BX81 Hs.326753 5493055 UniSTS:484061 MGC129573 protein-coding 13327 MODEL 1354428 FKBP9 FK506 binding protein 9, 63 kDa 7 7 7 p11.1 32978679 33028367 + 32963577 33013067 + 32997005 33046543 + 1580863;6480464 16303743;15489334;12754519;12690205;12477932;12036304;10524204;22863883;19322201;21906983 11328 A7YQ73;B7Z1G9;B7Z230;B7Z6H3;C9J4P8;O95302 AACC02000103;AB209352;ABBA01056857;ABBA01056858;ABBA01056859;AC083863;AF089745;AK075331;AK128597;AK293440;AK293954;AK294266;AK300328;AK304643;AK316290;AL050187;AMYH01017163;AMYH01017164;BC007443;BC064418;BC072422;BC099918;BC101723;BC112053;BC127737;BC150541;BC150542;CA427028;DC317549;NM_007270 AAC78853;AAH07443;AAH64418;AAH72422;AAH99918;AAI01724;AAI12054;BAD92589;BAG52112;BAG54697;BAH11505;BAH11634;BAH11716;BAH13259;BAH14230;BAH14661;EAL24461;EAL24462;NP_009201;O95302 Hs.103934 1658523;1687596;1695696;1725195;1795846;1852945;1853700;2116799;2154200;5022651;5037552 A006P36;A007C44;D11S2921;D8S2279;FKBP9_1476;G17146;RH124071;RH41952;RH48546;SHGC-78738;WI-14269 DKFZp586B1723;FKBP60;FKBP63;MGC126772;MGC138258;PPIase 63 kDa FK506-binding protein;63 kDa FKBP;FK506-binding protein 9;FKBP-63;FKBP-9;OTTHUMP00000123530;PPIase FKBP9;peptidyl-prolyl cis-trans isomerase FKBP9;rotamase protein-coding ENSG00000122642 3725 06510 VALIDATED 1318578 FKBP8 FK506 binding protein 8, 38kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008] 19 19 p12 18503568 18515383 - 18642568 18654383 - 1580863;6480464 15757646;10197430;19222999;18676370;18658153;18216108;17991864;17942410;17573772;17569659;17353276;17090549;17024179;16844119;16604427;16381901;16341674;16176796;15990872;17082457;15733859;15592455;15489336;15489334;15105374;15057824;12894220;12510191;12477932;11230166;11076863;8889548;7543869;17986458;21145461;22474283;20140889;16169070;18385096;19546213;19615732;20048149;20139069;21320469;20029029;20877624;20707607;21737445;18459960;22939629;17379601;21139048;21890473;21906983;22030396;21044950;22523079;19147576;21559462;22645275;22797925 23770 C8C9T5;J3KQ73;M0R1Q0;M0R1S6;M0R2K9;M0R2Q6;M0R304;Q14318 ABBA01051269;ABBA01051270;AC005387;AK026952;AK300571;AK313363;AL042208;AL555689;AMYH01009593;AY225339;AY278607;BC009966;BM719161;BM790404;BQ953871;BX538124;BX647405;BX647720;CH471106;GQ372970;NM_012181 AAC28753;AAH09966;AAO39020;AAQ84561;ABM84011;ABM87352;ACU65096;BAG36163;BAH13306;CAD98028;CAL37783;EAW84709;EAW84710;EAW84711;NP_036313;Q14318 Hs.173464 1656988;1730239;5491848 D15S134E;FKBP8;STS-L37033 FKBP38;FKBPr38 38 kDa FK506-binding protein;38 kDa FKBP;FK506-binding protein 8 (38kD);FKBP-38;FKBP-8;PPIase FKBP8;hFKBP38;peptidyl-prolyl cis-trans isomerase FKBP8;rotamase APPROVED protein-coding ENSG00000105701 3724 05327 604840 REVIEWED 737239 FLG filaggrin The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009] 1 1 q21.3 150541275 150564303 - 152274651 152297679 - 1598947;1580863;6480464;7240710 16444271 22322004;22360978;22403702;2740331;17704059;12850301;19602001;19589816;19538357;19538184;19515043;19501237;19492053;19408338;19348926;19247692;19239468;19183181;19134432;19037238;18987673;18976374;18843291;18818676;18774391;18769192;18760831;18637008;18620134;18578563;18565177;18521703;18420385;18396323;18385759;18384254;18325573;18313126;18307574;18305568;18239616;18200065;18193244;18176743;18172455;18094728;18073125;18068483;18049447;18032906;18007582;18005116;17989887;17980411;17970802;17704064;17684752;17657246;17581619;17531295;17502856;17417636;17410197;17380114;17301831;17291859;17255953;17195011;17096018;17008875;16990802;16815158;16810297;16710414;16570058;16550169;16261374;15675958;12838398;12230510;11380615;11279517;9886436;8780679;8417356;4132224;2579164;2248957;2043621;1429717;8270625;6174530;21145461;22381027;20445547;20573035;20621340;20629673;20686498;21166815;21219289;22962861;23537643;19601982;20222934;20814636;20800603;20865458;20975288;21039602;21074596;19958351;19550302;19601998;19615732;19663875;19681860;19720210;19733298;19785597;19804695;19839980;19863505;19874431;20016199;20028371;20109745;20149601;20159264;20179351;20208004;20230798;20346018;20426775;20513523;20132155;20943104;22622429;22897780;21289640;20962854;21137118;21410766;20500796;21255094;21666691;21326297;22951058;21514438;21365004;23063684;23421459;23568457;22921868;22964107;22742591;21261659;21426411;21701148;22030464;21434976;21576945;21723775;21800051;21991953;21692775;21496060;21983738;21923666;21945601;21139048;22071473;21518425;21777221;21790526;22088612;22158554;22177328;22288457;22299762;21501248;22229441;21999178;22407025;22418870;22903496;23152869;23166590;22960809;22182180;22220561;22612618;23039796;22635822;23622014;23273645 2312 P20930 AB208881;ABBA01049414;AF043380;AL356504;AMYH01001398;CH471121;CS673440;CS690823;FB665576;GM706788;L01089;L01090;M24355;M60494;M60495;M60499;M60500;M60502;M96943;NG_016190;NM_002016 AAA36487;AAA52454;AAA60176;AAA60177;AAA63244;AAA63245;AAA63246;AAA63247;AAA63248;AAC23559;ACX32320;BAD92118;CAP07487;CAP11455;CAR97069;CAT82291;EAW53383;EAW53384;EAW53385;NP_002007;P20930 Hs.654510 1331565;1336648;1649663;5015145;5493379 D1S1653;D1S252;D1S3436;SHGC-144331;UniSTS:485881 ATOD2 OTTHUMP00000014057;epidermal filaggrin;filaggrin APPROVED protein-coding ENSG00000143631 3748 15920 135940;146700;605803 REVIEWED 1604288 FLAD1 flavin adenine dinucleotide synthetase 1 This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 128026794 128036611 + 153222441 153232211 + 154955770 154965587 + 6480464;6907045 16643857;19240958;16189514;14702039;12477932;9110174;8619474;22939629;20186120;21900206;21139048;22190034 80308 Q5T190;Q5T191;Q5T196;Q8NFF5 ABBA01016723;AF218022;AF481877;AF520568;AK025979;AK090542;AK308243;AL451085;AMYH01001420;BC011378;BC014012;BC020253;BC021096;BC032323;BI919061;CH471121;DC371856;DQ458779;NM_001184891;NM_001184892;NM_025207;NM_201398;U79241 AAB50199;AAG17264;AAH11378;AAH14012;AAH20253;AAH21096;AAH32323;AAM77338;AAO49318;ABE65383;ABM81905;ABM85078;BAG52181;EAW53153;EAW53154;EAW53155;EAW53156;EAW53157;EAW53158;EAW53159;NP_001171820;NP_001171821;NP_079483;NP_958800;Q8NFF5 Hs.118666 2157760;5015961;5037552;5120999 D15S1477;D8S2279;RH64598;RH71261 FAD1;FADS;MGC31803;MGC40255;PP591;RP11-307C12.7 FAD pyrophosphorylase;FAD synthase;FAD synthetase;FAD-synthetase;FAD1 flavin adenine dinucleotide synthetase homolog;FMN adenylyltransferase;Fad1, flavin adenine dinucleotide synthetase, homolog;OTTHUMP00000035547;OTTHUMP00000035548;OTTHUMP00000035549;OTTHUMP00000035551;flavin adenine dinucleotide synthase;flavin adenine dinucleotide synthetase APPROVED protein-coding ENSG00000160688 24671 17887 610595 REVIEWED 6770708 FLI1-AS1 FLI1 antisense RNA 1 11 128561567 128565918 - 100507392 ABBA01023010;ABBA01023011;AI860159;AMYH01004120;AP001122;BC039676;NR_038908 Hs.657715 1699390;2143905 RH103284;STS-R74314 APPROVED miscrna ENSG00000254703 44177 VALIDATED 1314133 FKRP fukutin related protein This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008] 19 19 q13.32 51941143 51953582 + 47249303 47261832 + 1358626;1598944;1580863;6480464;7240710 14652796;11741828 14702039;19299310;18671187;18645206;18593008;18060779;17952692;17446099;17351538;17336067;17113772;17055682;16344560;16344347;16055117;15883334;15833432;15580560;15574464;15489334;15213246;15121789;14523375;12707439;12666124;12654965;12477932;11801394;11592034;11071142;11053680;10198165;8889548;19820980;19900540;19917824;19955119;20961759;20236121;16751776;21296577;21172462;21886772;21311896;20301468 79147 M0QX03;M0QXT8;M0QYR2;M0QYV4;M0QYV8;M0QZ46;M0QZ68;M0R005;M0R016;M0R092;M0R0G0;M0R112;M0R1M1;M0R274;M0R2U3;M0R342;Q9H9S5 ABBA01040985;AC008622;AJ314847;AK022638;AK095497;AK291282;AMYH01009871;AMYH01009872;AW504292;BC002612;BM979509;CH471126;CX866271;DA123579;DB090073;DN999716;NG_008898;NM_001039885;NM_024301 AAH02612;ABM84531;ABM86053;BAB14146;BAF83971;BAG53071;CAC85633;EAW57444;EAW57445;NP_001034974;NP_077277;Q9H9S5 Hs.515493 2125996 A008J01 FLJ12576;LGMD2I;MDC1C;MDDGA5;MDDGB5;MDDGC5;MGC2991 fukutin-related protein APPROVED protein-coding ENSG00000181027 17997 05962 606596;606612;607155;613153 REVIEWED 1320791 FKTN fukutin The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010] 9 9 q31-q33 107360232 107443220 + 108320411 108403399 + 1598929;1580863;6480464;7240710 9690476 19396839;19342235;19299310;19266496;19179078;19015585;18834683;18752264;18177472;17878207;17319799;17044012;17036286;17005282;16344560;15489334;15213246;15164053;15103718;14627679;12601708;12477932;12471058;12172906;11445638;11165248;11115853;10817652;10734260;10545611;10067123;9119396;8275093;20620061;19448620;20301385;20961758;21232131;18808525;21979053;22589738;20301468;20301486 2218 B4E2W4;H7C3W5;I7HFV8;I7HPB4;O75072;R4GMU0 AB008226;AB038490;AB609007;ABBA01042813;ABBA01042814;AK300840;AK304460;AL158070;AL601876;AMYH01021602;AW014603;BC058842;BC101808;BC112038;BC117699;BC117700;CH471105;DA917113;NG_008754;NM_001079802;NM_001198963;NM_006731 AAI01809;AAI12039;AAI17700;AAI17701;BAA32000;BAA94082;BAG62491;BAG65276;BAL04096;EAW59001;NP_001073270;NP_001185892;NP_006722;O75072 Hs.55777 1674425;1727643;2136224;5015961;5022200;5022450;5037552;5037670 D10S275;D15S1477;D3S4354;D8S2279;G63232;L18426;SHGC-54256;STS-N41001 CMD1X;FCMD;LGMD2M;MDDGA4;MDDGB4;MDDGC4;MGC126857;MGC134944;MGC134945;MGC138243 Fukuyama type congenital muscular dystrophy protein;OTTHUMP00000021841;fukutin;fukuyama-type congenital muscular dystrophy protein;patient fukutin APPROVED protein-coding ENSG00000106692 3622 06308 253800;607440;611588;611615;613152 REVIEWED 1603471 FLG2 filaggrin family member 2 1 1 1 q21.3 125432241 125443280 - 150587837 150599106 - 152321213 152332482 - 6480464 19384417;12477932;21145461;21319273;19601998;20448150;21565611;23455922;23568457;21531719;21139048;22354994 388698 Q5D862 ABBA01049414;AL356504;AMYH01001398;AY827490;BC029685;BC063543;BC108269;BX095286;DQ118293;NM_001014342 AAX12417;AAZ99029;NP_001014364;Q5D862 Hs.156124 5015619;5037552 D11S3114;D8S2279 IFPS FLG-2;OTTHUMP00000014119;filaggrin 2;filaggrin-2;ifapsoriasin;intermediate filament-associated and psoriasis susceptibility protein;intermediate filament-associated and psoriasis-susceptibility protein protein-coding ENSG00000143520 33276 11815 PROVISIONAL 1605337 FLJ11783 hypothetical protein FLJ11783 11 q23.3 117813154 117815083 + 14702039 79951 AK021845;AP001267;CH471065;NM_024891 BAB13909;EAW67385;NP_079167;Q9HAE0 Hs.664477 protein-coding 08567 5686957 FLJ16171 FLJ16171 protein 5 q35.2 174346085 174422734 - 441116 ABBA01044000;AC008413;AK131247;AMYH01015835;NR_046113 Hs.533036 miscrna ENSG00000204754 16911 VALIDATED 2303476 FLJ13197 uncharacterized FLJ13197 4 4 4 p14 39055560 39107460 - 38290206 38303211 - 38614322 38666249 - 14702039;23251661 79667 Q8WZ27;Q9H8V8 ABBA01074326;ABBA01074327;ABBA01074328;ABBA01074329;AC021860;AF289565;AK023259;AMYH01014115;CH471069;NR_026804 AAL55749;BAB14493;EAW92893;EAW92894;Q9H8V8 Hs.29725 1651457;1665472;1779628;2151285;5037249;5109281;5109291 D1S1425;D1S1459;D4S744;G31615;REN36941;SHGC-153605;SHGC-67372 APPROVED miscrna ENSG00000231160 07818 VALIDATED 1606066 FLJ20444 hypothetical protein FLJ20444 9 q21 66263518 66293576 - 403323 AK000451;AK290223;AL512625;CR769767;XM_933028 BAF82912;XP_938121 Hs.536967 protein-coding 16916 6480161 FLG-AS1 FLG antisense RNA 1 1 q21.3 152285935 152339315 + 23568457;12477932;14702039;20691247 339400 ABBA01049414;ABBA01049415;AK056431;AL135842;AL356504;AMYH01001398;BC041408;NR_103778;NR_103779;XR_108352;XR_111940;XR_171216 Hs.23783;Hs.744141 1650272;2148798 RH12458;WI-15174 APPROVED miscrna ENSG00000237975 27913 VALIDATED 1602267 FLJ26056 hypothetical protein LOC375127 22 q11.21 17040794 17066086 - 375127 Q6ZPC6 AC008079;AC011718;AK129567;NM_201401;XM_001126757 BAC85185;NP_958803;Q6ZPC6;XP_001126757 Hs.535667;Hs.652126 protein-coding 16925 1604509 FLCN folliculin This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 p11.2 17056251 17081221 - 17115526 17140502 - 6480464;6907045;7240710 17028174;12907635;18403135;19327534;19234517;19116017;18709329;18579543;18573707;18505456;18234728;18206534;17496196;17149965;21258407;16870330;16636660;16344560;15956655;15852235;15657874;15579035;15489334;14961590;14702039;14627671;21832049;23150719;12843323;12746401;12477932;12471204;12204536;11533913;11526515;22446046;20522427;22146830;18029348;20413710;21079084;20562859;17207965;19483054;20227563;20301695;18663353;22990118;22977732;21209915;20618353;21412933;21496834;21538689;21139048;21890473;22965878;22709692;22211584;23139756;23155228;22190034;23077212 201163 C9J4C4;J3QQZ7;Q8NFG4 ABBA01009767;ABBA01009768;AC055811;AF517523;AK126951;AK127912;AK309336;AL831885;AMYH01008155;BC015687;BC015725;BQ423946;CH471196;CS478258;CX759825;DA461022;DA944035;NG_008001;NM_144606;NM_144997 AAH15687;AAH15725;AAM94803;ADQ31685;BAC86760;BAC87186;CAD38565;CAM35387;EAW55715;EAW55716;NP_653207;NP_659434;Q8NFG4 Hs.31652 1299928;1341038;1679612;5015619;5015861;5015961;5022450;5022578;5022651;5024761;5037552;5108775;7185938 D10S16;D10S275;D11S2921;D11S3114;D15S1477;D17S2196;D17S740;D1S1423;D3S1674;D8S2279;RH36905;RH98335 BHD;DKFZp547A118;FLCL;FLJ45004;FLJ99377;MGC17998;MGC23445 BHD skin lesion fibrofolliculoma protein;OTTHUMP00000065503;OTTHUMP00000065504;OTTHUMP00000065507;birt-Hogg-Dube syndrome protein;folliculin APPROVED protein-coding ENSG00000154803 27310 06278 114500;135150;144700;173600;607273 REVIEWED 1603269 FLJ31958 hypothetical protein FLJ31958 q11.23 14702039 143153 Q96MT0 AK056520 BAB71202;Q96MT0 Hs.706372 protein-coding 08114 1603264 FLJ32154 hypothetical protein FLJ32154 20 20 20 q13.33 57947974 57950559 - 60742516 60745694 - 61272071 61274656 - 14702039 149650 Q5JT57 AK056716;AL357033;CH471077;XM_003119825;XR_109590;XR_115399 CAI17067;EAW75354;Q5JT57;XP_003119873 Hs.173280 RP11-93B14.6 hypothetical protein LOC149650 protein-coding 08121 MODEL 1320394 FLI1 Fli-1 proto-oncogene, ETS transcription factor This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 11 11 q24.1-q24.3 128069199 128187521 + 128556430 128683162 + 1582490;1580863;6480464 15232614 21321929;8339272;9681824;9010223;9651344;8679708;8604338;8439553;8246959;7773776;7542907;1845910;1765382;1522903;1445800;1394211;11313879;15735734;16990252;10891501;19417137;19158279;18785112;18648544;18414662;18174230;17884818;17727680;17163154;16964281;16930139;16829517;16802366;16148010;15919668;15809330;15798196;15489334;15282325;15273724;15231748;15021903;14534527;12875977;12743594;12739001;12724402;12556498;12477932;12359731;11118632;10949935;10827180;10606656;9751743;19530039;22081504;22887642;8039423;20676125;20228226;20211142;20933505;19349856;19859563;20019092;20103643;20308669;20308673;20379614;20382729;9764825;21087477;21571218;20879862;21451544;22372906;21917756;20665663;21633373;21643012;22086061;10364157;23145994;23327922;21890473;21931859;22446963;20881960;23041765;23049088;22965552;23182705;22930730 2313 E9PKJ7;Q01543 AB012624;AB012625;ABBA01023010;ABBA01023011;ABBA01023012;AF147318;AF275879;AI354789;AK294279;AK300153;AK313370;AMYH01004119;AMYH01004120;AP001122;AY029368;BC001670;BC010115;BX647094;CH471065;D38408;DC381599;M93255;M98833;NG_032912;NM_001167681;NM_001271010;NM_001271012;NM_002017;S45205;S64709;X67001;Y17293 AAA35812;AAA58479;AAA58480;AAA76854;AAB23637;AAG33027;AAH01670;AAH10115;AAK50443;ABM83508;ABM87857;BAA07463;BAA32805;BAA32806;BAG36169;BAG57565;BAG61938;CAA47399;CAA76731;EAW67715;EAW67716;EAW67717;EAW67718;EAW67719;EAW67720;NP_001161153;NP_001257939;NP_001257941;NP_002008;Q01543 Hs.504281 1299919;1342406;1645437;1685904;1699390;1706872;1724455;1731235;1737835;1742489;2124609;2138407;2141904;2142695;2143905;2151582;2181716;2184367;5093342;7185012 A009L40;D11S3447;D11S4123;D11S450;D11S4644;D11S912;FLI1;G32663;GDB:197560;RH103284;RH122391;RH17766;RH46535;RH70077;RH94112;SHGC-33899;SHGC-80921;STS-R74314;WI-17410 EWSR2;SIC-1 Ewing sarcoma breakpoint region 2;Friend leukemia integration 1 transcription factor;OTTHUMP00000230978;OTTHUMP00000230979;OTTHUMP00000230981;proto-oncogene Fli-1;transcription factor ERGB APPROVED protein-coding ENSG00000151702 3749 01901 193067 REVIEWED 1606505 FLJ12684 hypothetical protein FLJ12684 4 q12 53304441 53312323 - 14702039;12477932 79584 Q0P5R3;Q6NWN0;Q6NWN2;Q9H9K5 AC104066;AK022746;AK095318;AY189288;BC067526;BC067527;BC067528;BC067529;BC069998;BP871936;CH471057;NM_024534 AAH67526;AAH67528;AAH67529;AAH69998;AAO86732;BAB14220;EAX05439;NP_078810;Q0P5R3;Q6NWN0;Q6NWN2;Q9H9K5 Hs.363087 protein-coding 07790 1607013 FLJ20209 hypothetical LOC57245 3 p21.31 44931759 44935910 - 12477932 57245 AC098649;AK000216;AK127837;AL832057;BC101284;BC101285;BC101286;BC101287;BC113070;XM_933464;XM_944968 Q6ZRZ9;XP_938557;XP_950061 Hs.61430 miscrna 08615 1606078 FLJ26850 FLJ26850 protein 19 19 19 q13.33 47423205 47439323 + 55245513 55256970 + 50553937 50570052 + 12477932 400710 ABBA01032904;AC010624;AK130360;AMYH01009920;AW014112;AW026143;BC130542;BC130544;NR_027257 BAC85332 Hs.628968 1679772 RH94122 MGC163414;MGC163416 miscrna ENSG00000204666 16927 PREDICTED 2298831 FLJ25758 MAP/microtubule affinity-regulating kinase 1 pseudogene 19 19 19 p13.3 6947206 6948668 - 6956884 6957465 - 7004964 7006426 - 12477932 497049 ABBA01018531;AC025278;AK098624;AMYH01009380;AY090781;BC033035;BC110987;CH471139;NR_024372 AAM09817;EAW69052 Hs.367930 MGC111465 APPROVED pseudo 16923 VALIDATED 1604419 FLJ32679 golgin-like hypothetical protein LOC440321 p13 17672918;14702039;12477932 440321 AC139511;AK057241;AK292534;BC099913;BC110417;BC144672;BC150302;DQ309038;NM_001012452 AAH99913;AAI10418;AAI50303;ABD73922;BAF85223;NP_001012455 Hs.510812;Hs.648235 MGC102859;MGC104696 protein-coding 16932 1604906 FLJ33360 FLJ33360 protein 5 5 5 p15.31 6336528 6363377 - 6363554 6390405 - 6310554 6337405 - 14702039;12477932;20379614;23381943 401172 Q8NBE2 ABBA01016143;AC010635;AK090679;AMYH01014878;BC132707;BC132709;CH471102;NR_028351 AAI32708;AAI32710;BAC03503;EAX08111 Hs.376760 1335537;1658971;7187791 CHLC.GAAT4B03;D5S635 miscrna ENSG00000250490 16934 VALIDATED 1601922 FLJ37396 transmembrane protein FLJ37396 6 6 6 q21 110232901 110338155 + 109593705 109698561 + 109572062 109608597 + 14702039 285754 Q8N1W0 AK094715;AL355305;AL359712;CH471051;XM_003403516;XM_003403795 BAC04406;EAW48358;EAW48359;EAW48360;Q8N1W0;XP_003403564;XP_003403843 1669475;1768044;1849426 RH45011;RH46650;WI-15070 hypothetical protein LOC285754;transmembrane protein FLJ37396 APPROVED protein-coding 08222 MODEL 4108107 FLJ33534 uncharacterized LOC285150 2 2 2 p25.1 11173731 11188762 - 11179081 11190398 - 11239977 11272302 - 12477932;14702039;23251661;23319000 285150 Q8N2B8 ABBA01015639;ABBA01015640;ABBA01015641;AC062028;AK090853;AMYH01010110;BC111723;CH471053;NR_040080 AAI11724;BAC03531;EAX00945;Q8N2B8 Hs.329841 MGC133163 APPROVED miscrna ENSG00000145063 08158 VALIDATED 2304162 FLJ34503 uncharacterized FLJ34503 6 6 6 q21 114966947 114984185 + 114331994 114347236 + 114225551 114242806 + 14702039;12477932 285759 ABBA01026063;AK091822;AL671967;AMYH01016607;BC093647;BC101497;CH471051;NR_027060 BAC03756;EAW48257 Hs.376634 1650606;1666570 D6S1057;D6S499 MGC126546 APPROVED miscrna ENSG00000175967 08173 PREDICTED 4108125 FLJ35934 FLJ35934 p11.2 12477932;14702039 400579 Q8NA20 AK093253;AL353997;BC033201;XR_041166 BAC04110 Hs.375092 5015961 D15S1477 miscrna 13421 1316872 FLII flightless I homolog (Drosophila) This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 p11.2 18088875 18102780 - 18148129 18162230 - 1580863;6480464 9177775;10366446;18029348;19293151;19265123;18588881;17526423;17114343;17081983;16964243;16424162;15489334;15302935;14966289;12665801;12477932;11997338;11971982;11171324;9671805;9525888;8248259;7825574;16169070;19913121;20628086;19720835;19829305;20223827;22863883;22990118;19875381;23182705;22939629;8889548;20473970;21139048;21890473;21906983;21987572;21963094;22718342;23000965 2314 J3KS39;J3KS54;J3KT47;J3QLR6;J3QQQ2;J3QQU5;K7EJJ7;K7EP27;K7EP37;K7EQZ7;Q13045 AB208864;ABBA01009736;AC127537;AK295655;AK295814;AK297836;AK310400;AMYH01008166;AMYH01008167;BC001582;BC017030;BC021885;BC025300;BM930929;CH471196;DC341570;NG_023243;NM_001256264;NM_001256265;NM_002018;U01184;U80184 AAC02796;AAC03568;AAH25300;ABM84547;ABM87849;BAD92101;BAG58522;BAG58632;BAG60170;EAW55653;EAW55654;EAW55655;EAW55656;NP_001243193;NP_001243194;NP_002009;Q13045 Hs.513984 1684236;1689296;5119193 D17S1711;RH39400;SHGC-12561 FLI;FLIL;Fli1;MGC39265 OTTHUMP00000065689;protein flightless-1 homolog APPROVED protein-coding ENSG00000177731 3750 02647 600362 REVIEWED 1602047 FLJ36131 hypothetical protein FLJ36131 q11.2 14702039;12477932 338999 Q8N9W7 AC138750;AK093450;BC127816;XM_001722016;XM_001722364;XM_001722366 AAI27817;BAC04170;Q8N9W7;XP_001722068;XP_001722416;XP_001722418 Hs.531569;Hs.569472 protein-coding 08205 1602156 FLJ40453 FLJ40453 protein 5 q35.1 171645282 171657985 + 14702039 401217 Q8N7Q8 AC008671;AK097772;NM_001007542 BAC05169;NP_001007543;Q8N7Q8 Hs.531911 5021396;5037552 D8S2279;GDB:313783 protein-coding 16951 4108631 FLJ40194 uncharacterized FLJ40194 17 17 17 q21.32 43780045 43790468 + 44684789 44688321 + 47325605 47336027 + 14702039 124871 Q8N7Z3 ABBA01041194;ABBA01041195;AC004797;AK097513;AMYH01008463;BI463223;CH471109;NR_034161 BAC05083;EAW94685 Hs.446890 5014055;5015619;5016478;5024039;5037552;5117897 D11S3114;D16S325;D1S3697;D8S2279;GDB:434012;GDB:631813 APPROVED miscrna ENSG00000177369 16950 VALIDATED 1603344 FLJ40288 uncharacterized FLJ40288 7 7 q32.3 132060287 132063141 + 132333553 132413528 + 14702039 286023 A4D1N5 AACC02000027;ABBA01001094;AC009365;AK097607;AMYH01017947;CH236950;CH471070;NR_046323 A4D1N5;BAC05118;EAL24075;EAW83797;EAW83798 Hs.671875 APPROVED miscrna ENSG00000183470 08276 VALIDATED 1604678 FLJ41170 FLJ41170 protein 14 q32.31 100541398 100543122 + 440200 Q6ZWF7 AK123165;AL132709;BC132807;NM_001004332 AAI32808;BAC85546;NP_001004332;Q6ZWF7 Hs.611431 5015619;5015861;5015961;5022322;5037552;7185938 D10S16;D11S2560;D11S3114;D15S1477;D8S2279 protein-coding 13450 1604912 FLJ41423 FLJ41423 protein 11 p11.2 45349594 45350097 + 399886 Q6ZW93 AC018716;AK123417;BC130636;BC130638;CH471064;NM_001001679 AAI30637;AAI30639;BAC85611;EAW68041;NP_001001679;Q6ZW93 Hs.559970 5017170 L29953 protein-coding 13453 1602796 FLJ41733 FLJ41733 protein 21 q22.3 43607646 43608216 + 400870 Q6ZW23 AK123727;AP001046;NM_207473 BAC85684;NP_997356;Q6ZW23 Hs.517320 protein-coding 16955 1602150 FLJ41841 FLJ41841 protein 6 p12.3 47975304 48144348 - 401263 Q6ZW05 AK123835;AL121973;AL139336;AL161622;AL353138;NM_207499 BAC85703;NP_997382;Q6ZW05 Hs.659409 protein-coding 13455 1605179 FLJ42258 FLJ42258 protein 11 q13.2 69181160 69182379 - 440049 Q6ZVP4 AK124252;AP001888;BC133014;BC133018;NM_001004327 AAI33015;AAI33019;BAC85817;NP_001004327;Q6ZVP4 Hs.653187 protein-coding 13461 1606088 FLJ42986 FLJ42986 protein 2 q11.2 101380255 101390847 - 389012 Q6ZNB4 AC092570;AK124976;AK131289;CH471127;XM_001127714;XM_001128206 BAC86013;BAD18461;EAX01812;EAX01813;Q6ZNB4;Q6ZV50;XP_001127714;XP_001128206 Hs.647811 protein-coding 13469 5133630 FLJ42102 uncharacterized LOC399923 11 11 11 q13.4 68410955 68411452 - 70794947 70795444 - 71116792 71134400 - 399923 Q6ZVU0 ABBA01017551;AK124096;AMYH01003786;AP002387;NR_038862 Q6ZVU0 Hs.128191 5015619;5037552 D11S3114;D8S2279 APPROVED miscrna ENSG00000172900 13457 VALIDATED 1605186 FLJ44076 FLJ44076 protein 3 q12.1 101004233 101007592 - 401080 Q6ZU06 AC069222;AK126064;BC132843;BC132847;NM_207486 AAI32844;AAI32848;BAC86421;NP_997369;Q6ZU06 Hs.518032 protein-coding 16973 7207006 FLJ44313 FLJ44313 protein 18 q23 74207477 74210045 + 400658 Q6ZTR6 ABBA01015279;AC018413;AK126293;AMYH01009107;AMYH01009108;CH471117;NM_001272093;XR_110157;XR_111802;XR_172253 BAC86516;EAW66580;NP_001259022 Hs.451549 uncharacterized protein LOC400658 protein-coding ENSG00000220032 13489 VALIDATED 1602963 FLJ38723 uncharacterized FLJ38723 15 15 15 q22.2 39424918 39492715 - 60322242 60337311 - 62534950 62562879 - 12477932;14702039;16751776 255180 Q8N8X6 ABBA01038927;ABBA01038928;AC126323;AK096042;AMYH01006697;BC131692;CH471082;DQ596595;XR_132593;XR_133071;XR_172108 AAI31693;BAC04685;EAW77611;EAW77612;EAW77613;Q8N8X6 Hs.370479 1659073;1698072;1698282;1766493 RH102568;RH102678;SHGC-149814;STS-N28260 APPROVED miscrna 08792 MODEL 4108658 FLJ43879 FLJ43879 protein 2 2 2 q37.3 233536808 233543775 - 239500249 239512311 - 239840998 239847965 - 401039 Q6ZUA0 ABBA01033525;AC114788;AC142117;AK125867;AMYH01011610;NR_034162 BAC86326 Hs.516791 miscrna ENSG00000227744 16969 VALIDATED 1603144 FLJ45079 FLJ45079 protein 17 17 17 q25.3 72470678 72475764 - 73386704 73391764 - 75875083 75880169 - 400624 Q6ZRC4 ABBA01002950;AC015804;AK127023;AK128332;AMYH01008661;CH471099;NR_028337 BAC86792;BAC87388;EAW89479 Hs.514521 1770315 D17S615 FLJ46474 miscrna 16979 VALIDATED 1603236 FLJ45121 FLJ45121 protein 16 q24.3 87330709 87335327 + 400556 Q6ZSY7 AC138028;AK127064;CH471184;NM_207451 BAC86809;EAW66774;NP_997334;Q6ZSY7 Hs.437712 protein-coding 13499 1602797 FLJ45139 FLJ45139 protein 21 q22.2 39171085 39232223 - 400867 Q6ZSX8 AF064858;AK127082;AP001042;AP001043;AP001044;AP001045;NM_001001692 BAC86818;NP_001001692;Q6ZSX8 Hs.689509 1669452 G29029 protein-coding 16980 1603237 FLJ45256 FLJ45256 protein 16 p12.1 24581613 24582221 - 400511 Q6ZSR6 AC002565;AK127191;BC132761;BC132789;NM_207448 AAI32762;AAI32790;BAC86880;NP_997331;Q6ZSR6 Hs.592028 5016478;5117897 GDB:434012;GDB:631813 protein-coding 16985 1606071 FLJ45337 FLJ45337 protein 1 p32.3 55819298 55973263 + 400754 Q6ZSN9 AK127270;AL603840;AL691473;NM_207465 BAC86909;NP_997348;Q6ZSN9 protein-coding 16986 2303830 FLJ39739 uncharacterized FLJ39739 1 1 q21.1 121164814 121167484 - 147906022 147931980 - 14702039;12477932 388685 Q8N8A9 ABBA01053736;AC245100;AK097058;AK309393;AK310056;AK310186;AL022240;AL592207;AL691471;AMYH01001373;BC071624;NR_027468;NR_104014 BAC04939 Hs.713362;Hs.745431 1684290;2175800;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;RH69216;SHGC-32277 FLJ17098;FLJ17228;FLJ99434 APPROVED miscrna 13438 VALIDATED 1604172 FLJ40448 hypothetical protein FLJ40448 16 q24.3 87336676 87337528 + 14702039;12477932 339059 Q2NKK6;Q8N7R2 AC138028;AK097767;BC111769;NM_182605 AAI11770;BAC05165;NP_872411;Q2NKK6;Q8N7R2 Hs.449817 MGC133175 protein-coding 08282 1604911 FLJ45721 FLJ45721 protein 4 p15.2 26818225 26818804 - 401123 Q6ZS92 AC024132;AK127623;NM_207490 BAC87062;NP_997373;Q6ZS92 Hs.429441 protein-coding 13512 1606636 FLJ45831 FLJ45831 protein 17 p12 14611625 14636625 - 400576 Q6ZS49 AC005863;AK127731;NM_001001684 BAC87106;NP_001001684;Q6ZS49 Hs.446616 protein-coding 13514 2298827 FLJ42393 uncharacterized LOC401105 3 3 3 q27.3 186326822 186329085 + 189379025 189380771 + 187896331 187898596 + 12975309;12477932 401105 Q6ZVL7 ABBA01058359;AC022498;AK124384;AMYH01013749;AY358227;BC132980;BC132982;NG_016932;NR_024413 AAQ88594;BAC85844 Hs.679026 1696048 SHGC-83198 AVPC1948 APPROVED miscrna ENSG00000213132 16962 VALIDATED 1606086 FLJ46347 hypothetical LOC389064 2 q31.1 174907412 174910540 - 389064 Q6ZRH9 AC018470;AK128215;NM_001005303 BAC87331;NP_001005303;Q6ZRH9 Hs.516603 protein-coding 13532 1602149 FLJ44955 FLJ44955 protein 6 q24.3 146152099 146154802 - 12477932 401278 Q6ZT50 AK126903;AL023806;BC118596;BC122560;NM_207500 AAI18597;AAI22561;BAC86744;NP_997383;Q6ZT50 Hs.648061 protein-coding 16978 1603807 FLJ46836 FLJ46836 protein 9 q34.11 131943633 131944202 - 401554 Q6ZQW9 AK128673;AL360004;BC132936;NM_207509 AAI32937;BAC87564;NP_997392;Q6ZQW9 Hs.522437 protein-coding 13541 1602028 FLJ45974 uncharacterized LOC401337 7 7 7 p12.1 53783722 53940133 - 53801332 53847112 - 53723202 53879624 - 401337 Q6ZRY6 AACC02000088;ABBA01011833;ABBA01011834;ABBA01011835;ABBA01011836;AC007964;AC074348;AK127870;AMYH01017255;CH236957;NR_038371 BAC87170 Hs.531378 1666362;1758681;2123736 GDB:1318146;GDB:1318722;SHGC-149156 APPROVED miscrna ENSG00000205628 16997 VALIDATED 5133364 FLJ46300 FLJ46300 protein 10 10 10 q26.3 127231312 127249118 - 133457889 133458365 - 133604734 133622535 - 399827 Q6ZRK0 ABBA01006168;AK128177;AL450307;AMYH01003193;CH471066;NR_038365 BAC87310;EAW49149 Hs.523353 1770900 SHGC-14552 miscrna ENSG00000189275 13530 VALIDATED 1606627 FLJ46838 FLJ46838 protein 2 p16.3 48610026 48612560 + 440865 Q6ZQN3 AC073082;AK128867;NM_001007546 NP_001007547;Q6ZQN3 Hs.674050 protein-coding 17005 5144637 FLNB-AS1 FLNB antisense RNA 1 3 3 58162838 58170911 - 58148274 58156345 - 100506906 XR_110014;XR_112495 1645425;1677014;1776775;2130494;2174596 D3S3923;RH78421;SHGC-77042;STS-H01996;STS-M62994 APPROVED miscrna 40239 1606387 FLJ46361 deleted in malignant brain tumors 1 pseudogene 10 10 10 q26.13 118222699 118263646 + 124506200 124547151 + 124516210 124557161 + 375940 A6NE64 ABBA01062840;AK128228;AL731543;AMYH01003142;NR_003570 A6NE64;BAC87338 Hs.650695 1662062;1758257;5015861;5022578;5037552;7185938 AFM338zc9;D10S16;D1S1423;D8S2279;SHGC-147816 pseudo 09964 PROVISIONAL 1602799 FLJ43806 hypothetical protein FLJ43806 1 p36.21 15300684 15317125 + 14702039;12477932;9110174;8619474 399563 Q5TGF1;Q6ZUD1 AF052120;AK057155;AK125388;AK125794;AL034395;AL035405;AL391215;BC101637;BC113621;BX648256;NM_201628 AAI01638;AAI13622;BAC86294;CAI13901;CAI19832;CAI19921;NP_963922;Q5TGF1;Q6ZUD1 Hs.631868 MGC126686;RP1-21O18.1 protein-coding 16967 1601790 FLJ44635 TPT1-like protein X X X q13.1 71708214 71725703 + 71280759 71298324 + 71364034 71381600 + 14702039;12477932;21906983 392490 Q56UQ5 ABBA01046187;ABBA01046188;ABBA01046189;ABBA01046190;AK126598;AMYH01022553;AY572224;BC137552;BC137564;BX119917;NM_207422 AAI37553;AAI37565;AAS76644;BAC86606;NP_997305;Q56UQ5 Hs.660859 1663908;1681664;1690658;1722679;1731429;2137793;2156606 AFM311zg1;DXS1178;DXS6743;G60424;RH41035;RH91907;WI-15592 TPT1-like protein protein-coding 13491 VALIDATED 1605773 FLJ45422 FLJ45422 protein 6 p21.33 30335353 30342707 + 12477932 441140 Q6ZSK9 AK127349;AL662782;AL662832;AL844220;BC139904;BC141846;CH471081;NM_001004349 AAI39905;AAI41847;BAC86939;EAX03278;EAX03279;NP_001004349;Q6ZSK9 Hs.656020 protein-coding 16987 1318791 FLNC filamin C, gamma This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 q32-q35 128257719 128286572 + 128470483 128499328 + 1580863;6480464;6907045;7240710 21620354;16076904;18029348;19472918;19151983;18487259;17987659;17825253;17412757;17379241;17174070;15929027;15642266;15461588;15159586;14702039;14506720;12525170;12480088;12438262;12376540;12006559;11842093;11739414;11252955;11171996;11153914;11102480;11038172;10984498;10658210;10629222;9791010;9694715;9412467;9006895;8681137;8088838;7689010;12119179;15385448;17360532;21628590;21145461;21319273;19913121;20628086;20732627;16501887;20562859;20936779;20417099;20578970;12393796;12679033;12704190;15231748;15525470;17474147;19050726;19615732;22863883;22939629;19616115;22586326;21139048;21890473;22108332;18457437;22131542;20301672;19738201;19805454;20085233;21565611;21988832;23000965;23106098;19366992;21853274;22505724;22802962;22972877 2318 Q14315;Q59H94 AACC02000035;AB208865;AB371585;ABBA01057652;ABBA01057653;ABBA01057654;AC025594;AF089841;AF146692;AF184126;AF252549;AJ012737;AJ132990;AK001048;AMYH01017924;CH236950;CH471070;F30928;NG_011807;NM_001127487;NM_001458;X70083;X70084 AAD12245;AAF67190;AAF68195;AAF80245;BAD92102;BAG48314;BAG50853;CAA49688;CAA49689;CAB46442;CAB51535;EAW83689;EAW83690;EAW83691;NP_001120959;NP_001449;Q14315 Hs.58414 1682335 RH99004 ABP-280;ABP280A;ABPA;ABPL;FLJ10186;FLN2;MFM5;MPD4 ABP-280-like protein;ABP-L, gamma filamin;FLN-C;OTTHUMP00000025245;OTTHUMP00000212838;actin binding protein 280;actin-binding-like protein;filamin 2;filamin-2;filamin-C APPROVED protein-coding ENSG00000128591 3756 00018 102565;609524;614065 REVIEWED 1323621 FLNB filamin B, beta This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009] 3 3 p14.3 57969167 58133018 + 57994127 58157982 + 1601168;1580863;1601170;6480464;6907045;7240710 14991055;15994868 16106752;22190451;8327473;10676904;16076904;9694715;9651345;19505475;19054571;19052145;19039035;18815275;18809679;18799729;18487259;18257094;18029348;16964243;16801345;16752402;22939629;23036857;15592455;15054484;14702039;12525170;12496242;12393796;12077712;12006559;11807098;11739414;11336782;11252955;11153914;10449914;9437013;7485161;12119179;16009940;19300455;20634891;10644691;15231748;17474147;19453265;19615732;19727905;20379614;23182705;23402259;23568457;21182205;22863883;22990118;18624398;22586326;22145905;21139048;21890473;21906983;19738201;19805454;20467438;20706999;22623428;23000965;22174152;20301736;19270716;21319273;23401860;19366992;21853274;22505724;22802962 2317 E7EN95;H7C5L4;Q8WXT3;Q9UEV9 AB191258;AB209889;AB371580;AB371581;AB371582;ABBA01024395;ABBA01024396;ABBA01024397;AC114399;AC137936;AF042166;AF043045;AF191633;AF238609;AF353666;AF353667;AK022486;AL137574;AL699183;AL833551;AMYH01013227;AMYH01013228;BX641085;CH471055;CR749793;M62994;NG_012801;NM_001164317;NM_001164318;NM_001164319;NM_001457 AAA35505;AAC33845;AAC39842;AAF72339;AAF97046;AAI56185;AAL68439;AAL68440;AAL68441;AAL68442;AAL68443;BAD52434;BAD93126;BAG48309;BAG48310;BAG48311;CAB70818;CAE46040;CAH18654;EAW65352;EAW65353;EAW65354;EAW65355;EAW65356;EAW65357;NP_001157789;NP_001157790;NP_001157791;NP_001448;O75369 Hs.476448 1336120;1645425;1648095;1656491;1671935;1677014;1776775;2108101;2125497;2130494;2174596;2184884;5015105;7183762;7186424 D3S1581;D3S1600;D3S3923;D3S4069;FLNB_8352;G09702;RH16494;RH45533;RH78421;SHGC-153438;SHGC-34580;SHGC-77042;STS-H01996;STS-M62994 ABP-278;ABP-280;AOI;DKFZp686A1668;DKFZp686O033;FH1;FLN-B;FLN1L;LRS1;SCT;TABP;TAP ABP-280 homolog;FLN-B;Larsen syndrome 1 (autosomal dominant);OTTHUMP00000214207;OTTHUMP00000214208;OTTHUMP00000214209;OTTHUMP00000214211;OTTHUMP00000214213;actin binding protein 278;actin-binding-like protein;beta-filamin;filamin 1 (actin-binding protein-280)-like;filamin homolog 1;filamin-3;filamin-B;thyroid autoantigen;truncated ABP;truncated actin-binding protein APPROVED protein-coding ENSG00000136068 3755 04543 108720;108721;112310;150250;272460;603381 REVIEWED 7176883 FLT1P1 fms-related tyrosine kinase 1 pseudogene 1 3 p21.31 46183849 46185282 - 11896456;20190752 391533 ABBA01024719;AC104439;AMYH01013130;NG_005897 pseudo 44609 INFERRED 1345456 FLRT1 fibronectin leucine rich transmembrane protein 1 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008] 11 11 11 q12-q13 61198290 61212755 + 63627938 63643221 + 63871362 63886645 + 1580863;6480464 8619474;10644439;12975309;12477932;9110174;20421966;23128233 23769 O43408;Q9NZU1 ABBA01003285;AF007139;AF169675;AK289931;AMYH01003701;AP006333;AY358308;BC018370;CH471076;NM_013280 AAC19151;AAF28459;AAH18370;AAQ88675;ADZ15504;BAF82620;EAW74194;NP_037412;Q9NZU1 Hs.584876 1645604;2109311 FLRT1__6736;STS-R38365 MGC21624 OTTHUMP00000236865;fibronectin-like domain-containing leucine-rich transmembrane protein 1;leucine-rich repeat transmembrane protein FLRT1 APPROVED protein-coding ENSG00000126500 3760 05311 604806 REVIEWED 735666 FLOT2 flotillin 2 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008] 17 17 q11-q12 24230483 24248841 - 27206357 27224715 - 1580863;6480464;6907045 10212252;14667819;8051082;12493773;1769667;19318123;18337418;18296650;18237819;17854803;17600709;17307333;17113085;17013097;16521037;15492257;15489334;12477932;20682791;21701559;22438585;22261722;12107410;11999340;11159550;10462713;8125298;20515742;11598189;15569306;19404397;19542222;19605558;20027317;21187433;21119006;21674799;21832049;22939629;17342744;22081607;20360068;21139048;21890473;21906983;21987572;22797925;23012365 2319 E7EMK3;J3QKZ4;J3QLD9;K7EJ47;K7EKW9;Q14254;Q9BTI6 ABBA01015037;ABBA01015038;AC024267;AK225491;AMYH01008285;BC003683;BC017292;BT019477;BT019478;CA390100;CH471159;CR541784;CR542265;M60922;NM_004475 AAA65729;AAH03683;AAH17292;AAV38284;AAV38285;ABM83617;ABM86861;CAG46583;CAG47061;EAW51152;EAW51154;NP_004466;Q14254 Hs.514038 1677760;1681809;1685149;1687383;1731973;2110407 D17S963;FLOT2__6735;RH12224;RH17712;RH17814;RH78255 ECS-1;ECS1;ESA;ESA1;M17S1 Flotillin 2 (epidermal surface antigen 1);OTTHUMP00000163513;OTTHUMP00000163514;epidermal surface antigen;flotillin-2;membrane component chromosome 17 surface marker 1;membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1) APPROVED protein-coding ENSG00000132589 3758 00580 131560 REVIEWED 736684 FLOT1 flotillin 1 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT1 encodes a caveolae-associated, integral membrane protein. The function of flotillin 1 has not been determined. [provided by RefSeq, Jul 2008] 6 6 p21.3 30803490 30818432 - 30695511 30710453 - 1580863;6480464;6907045 10212252;16480949;18029348;18000879;9153235;19318123;19258392;19121286;18660489;17600709;17587329;17307333;17113085;17081065;16341206;16198165;15939299;15862967;15545008;15489334;15469992;15128873;14708344;12477932;11598189;11481476;11167132;11159550;11042152;11001060;10931946;10462713;8125298;15120622;19348413;21399631;15569306;16169070;19404397;19815536;19851445;20027317;21187433;18850735;12202484;19738201;21963094;21988832;22936677;23000965;23627023;21674799;22939629;16196087;21447726;22232557;20360068;21110914;21139048;21890473;22215737;22235335;18164080;17548467;20682791;20810659;20880565;22190034;22337587;22797925;23581411;23012365 10211 A2AB09;A2AB10;A2AB11;A2AB12;A2AB13;A2ABJ5;B0S8A9;B0S8B0;B0S8B1;B0V108;B0V109;B0V110;B0V111;B0V112;B0V113;B0V114;B0V2I8;B0V2I9;B0V2J0;B4DVY7;O75955;Q5ST80 AB088101;AB103607;AB202099;ABBA01038054;ABBA01038055;ABBA01038056;AF085357;AF089750;AF117234;AK000816;AK222530;AK301291;AL662797;AL662848;AL845353;AMYH01016207;BA000025;BC001146;BC128154;BT007077;BX248307;BX927283;CH471081;CR456946;CR759873;CR788240;CR936878;CT009501;NM_005803 AAC35387;AAD40192;AAF17215;AAH01146;AAI28155;AAP35740;ABM84741;ABM92256;BAB63320;BAC54934;BAD96250;BAE78620;BAF31269;BAG62849;CAG33227;EAX03325;EAX03326;EAX03327;NP_005794;O75955 Hs.179986 1670315;1687970;1725707;1792600;1792602;1792604;1795132;1796042;2117342;2145006;2153669;2168021;2171444;2220180 D6S2115;D6S2956;G62116;IER3_130;PMC154982P1;PMC154982P2;PMC154982P3;PMC98754P3;RH12614;RH46785;RH78215;RH91431;STS-AA034911;WI-18721 OTTHUMP00000029208;OTTHUMP00000164855;flotillin-1;integral membrane component of caveolae APPROVED protein-coding ENSG00000137312 3757 06105 606998 REVIEWED 1354471 FLNA filamin A, alpha The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] X X q28 153230091 153252845 - 153576900 153603006 - 1598953;1598954;1580863;6480464;6484113;6907045;7240710;7207227 9883725;12612583;12239094 17357080;11146652;1833070;10051605;2391361;3138234;4044584;12761501;15684392;17536008;18322202;10692483;19293932;19292868;19213840;19177143;19144823;19137608;19018795;19002047;18829455;18799729;18644866;18598695;18556573;18487259;18427995;18404377;18201775;18056414;18029348;17897634;17690686;17572668;17431908;17420725;17408621;17389601;17235394;17190868;17081983;17060905;16964243;16949617;16862148;16849481;16835913;16611986;16596676;16565220;16482509;16442073;16299064;16106752;16076904;16030015;15994863;15940695;15862967;15837785;15687500;15668422;15657061;15654694;15592455;15459826;15342556;15324660;15302935;15249610;15231748;15194946;15128042;15024089;14988809;14718723;14702039;14660646;12923176;12791664;12753905;12750292;12734206;12704190;12682292;12679033;12589795;12531889;12477932;12410386;12393796;12324467;12198493;12169691;12106908;12055638;12006559;11943148;11914408;11911837;11909861;11807098;11781567;11739414;11700320;11602572;11532987;11390380;11390379;11336782;11290523;11278410;11252955;11163396;11153914;11102480;11038172;10637311;10617615;9722563;9490735;9437013;9412467;9006895;8871564;8733135;8674032;8609175;8406501;8290091;8088819;7689010;3658675;2248958;2177445;1733165;208386;12119179;12181426;11320256;21660952;16009940;21628590;21737450;21750192;22194892;19913121;20628086;20650901;20598277;20937704;21095189;19759913;21036706;14630798;20562859;20808917;20936779;20585650;20736409;14573758;15225631;16248985;16291724;16355270;16729043;16902413;17215244;17474147;19458194;19514078;19594548;19615732;19690385;19699211;19759182;19773341;19776392;19808958;19917821;19923718;20006946;20156194;20171211;20186808;20351098;20351101;20468064;6457647;20473907;20301392;22939629;23041423;20730588;21156842;20305393;22676060;16944923;19167051;20844545;23117662;18303054;23007402;23077236;23106098;23161538;23184937;21325883;21169733;21524097;21697133;16335966;20847418;21359179;21412975;21252943;21705339;22174152;21566085;21821884;20797700;21182205;22863883;22990118;21081666;21807941;19596686;21914078;21926999;17620599;22586326;18781797;20309963;21960593;21987572;21139048;21693764;21890473;21906983;22238415;22076441;18548008;21815255;21773876;19471022;22307607;20301567;22334688;16263121;19738201;19805454;21080425;21150319;21565611;21706016;21963094;22053931;22623428;23000965;23434281;21145461;21319273;22771033;22366253;17984062;20498229;23398456;23500468;19366992;22004035;22505724;22802962;22870205;22740120 2316 E9PHF0;F8WE98;H0Y5C6;H0Y5F3;H7C2E7;P21333;Q5HY54;Q60FE5;Q6NXF2 AB191259;AB191260;AB371574;AB371575;AB371576;AB371577;AB371578;AB371579;AB593010;ABBA01045291;ABBA01045292;AC245140;AK074048;AK090427;AK125630;AK300165;AK304255;AL050396;AL157419;AMYH01023315;BC014654;BC028089;BC041179;BC067111;BC109289;BP235228;BX664723;BX936346;CH471172;GU727643;JA780914;JA780916;L44140;NG_011506;NM_001110556;NM_001456;X53416;X70082;X70085 AAA92644;AAH14654;AAH41179;AAH67111;AAI09290;ADU87644;BAB84874;BAC03408;BAD52435;BAD52436;BAG48303;BAG48304;BAG48305;BAG48306;BAG48307;BAG48308;BAG61947;BAG65121;BAJ83965;CAA37495;CAA49687;CAA49690;CCH22601;CCH22602;EAW72744;EAW72745;EAW72746;EAW72747;EAW72748;NP_001104026;NP_001447;P21333 Hs.195464 1702374;1731971;1798904;1799210;1799802;1800852;1801494;1801538;1801572;1801704;1801864;1801964;1802490;1802854;1802908;1802910;1803004;1803006;1803058;1803262;1803454;1803822;1804558;1804560;1805710;1805936;1807216;1809240;1812088;1823808;2036482;2036484;2036486;2036488;2036490;2036492;2036494;2036496;2036498;2036500;2036502;2036504;2036506;2036508;2036510;2036512;2036514;2036516;2036518;2036520;2036522;2036524;2036526;2036528;2036530;2036532;2036534;2036536;2036538;2036540;2036542;2036544;2036546;2036548;2036550;2036552;2036554;2036556;2036558;2036560;2036562;2036564;2036566;2036568;2036570;2036572;2036574;2036576;2036578;2036580;2036582;2036584;2036586;2036588;2036590;2036592;2036594;2036596;2036598;2036600;2036602;2036604;2036606;2036608;2036610;2036612;2036614;2036616;2036618;2036620;2036622;2036624;2036626;2036628;2036630;2036632;2036634;2036636;2036638;2036640;2036642;2036644;2036646;2036648;2036650;2036652;2036654;2036656;2036658;2036660;2036662;2036664;2036666;2036668;2036670;2036672;2036674;2036676;2036678;2036680;2036682;2036684;2036686;2036688;2036690;2036692;2036694;2036696;2036698;2036700;2036702;2036704;2036706;2036708;2036710;2036712;2036714;2036716;2036718;2036720;2036722;2036724;2036726;2102452;2102454;2102456;2102458;2102460;2102462;2102464;2102466;2102468;2102470;2102472;2102474;2102476;2102478;2102480;2102482;2189459 DXS1262;ECD00293;ECD00453;ECD00755;ECD01291;ECD01622;ECD01647;ECD01664;ECD01732;ECD01813;ECD01863;ECD02131;ECD02315;ECD02343;ECD02344;ECD02393;ECD02394;ECD02420;ECD02527;ECD02624;ECD02821;ECD03208;ECD03209;ECD03805;ECD03921;ECD04574;ECD05610;ECD07049;ECD12996;GDB:452893;MARC_6567-6568:992007312:1;REN89250;REN89251;REN89252;REN89253;REN89254;REN89255;REN89256;REN89257;REN89258;REN89259;REN89260;REN89261;REN89262;REN89263;REN89264;REN89265;REN89266;REN89267;REN89268;REN89269;REN89270;REN89271;REN89272;REN89273;REN89274;REN89275;REN89276;REN89277;REN89278;REN89279;REN89280;REN89281;REN89282;REN89283;REN89284;REN89285;REN89286;REN89287;REN89288;REN89289;REN89290;REN89291;REN89292;REN89293;REN89294;REN89295;REN89296;REN89297;REN89298;REN89299;REN89300;REN89301;REN89302;REN89303;REN89304;REN89305;REN89306;REN89307;REN89308;REN89309;REN89310;REN89311;REN89312;REN89313;REN89314;REN89315;REN89316;REN89317;REN89318;REN89319;REN89320;REN89321;REN89322;REN89323;REN89324;REN89325;REN89326;REN89327;REN89328;REN89329;REN89330;REN89331;REN89332;REN89333;REN89334;REN89335;REN89336;REN89337;REN89338;REN89339;REN89340;REN89341;REN89342;REN89343;REN89344;REN89345;REN89346;REN89347;REN89348;REN89349;REN89350;REN89351;REN89352;REN89353;REN89354;REN89355;REN89356;REN89357;REN89358;REN89359;REN89360;REN89361;REN89362;REN89363;REN89364;REN89365;REN89366;REN89367;REN89368;REN89369;REN89370;REN89371;REN89372;stSG603978;stSG603979;stSG603980;stSG603981;stSG603982;stSG603983;stSG603984;stSG603985;stSG603986;stSG603987;stSG603988;stSG603989;stSG603991;stSG603992;stSG603993;stSG603997 ABP-280;ABPX;CSBS;CVD1;DKFZp434P031;FLJ43642;FLN;FLN-A;FLN1;FMD;MNS;NHBP;OPD;OPD1;OPD2;XLVD;XMVD FLN-A;OTTHUMP00000024320;OTTHUMP00000024321;OTTHUMP00000064890;actin binding protein 280;alpha-filamin;endothelial actin-binding protein;filamin 1;filamin-1;filamin-A;non-muscle filamin APPROVED protein-coding ENSG00000196924 3754 02060 300017;300048;300049;300244;300321;300537;304120;305620;309350;311300;314400 REVIEWED 1318426 FLRT2 fibronectin leucine rich transmembrane protein 2 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRT family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. [provided by RefSeq, Jul 2008] 14 14 14 q24-q32 66040840 66138639 + 85066241 85164023 + 85996488 86094270 + 1580863;6480464 10644439;16872596;15489334;15340161;14702039;12975309;12477932;9455477;8889548;19834535;22424883 23768 B3KPR2;O43155 AA442817;ABBA01030574;AF169676;AK056649;AL049775;AL132641;AL136241;AMYH01005922;AY358287;BC126249;BC130290;BC143936;BQ012006;CB267726;CB306837;CH471061;NM_013231 AAF28460;AAI26250;AAI30291;AAI43937;AAQ88654;ADR83244;BAG51774;EAW81352;NP_037363;O43155 Hs.533710;Hs.624735;Hs.744139 1650460;1659112;1717499;1857424;2109313;2114865;2130509;2150396;2178758 FLRT2__6737;RH122255;RH44492;RH47674;RH66730;RH67807;SGC34761;SHGC-53853;STS-AA034366 KIAA0405 OTTHUMP00000245926;OTTHUMP00000245927;fibronectin-like domain-containing leucine-rich transmembrane protein 2;leucine-rich repeat transmembrane protein FLRT2 APPROVED protein-coding ENSG00000185070 3761 05312 604807 REVIEWED 4144951 FLVCR1-AS1 FLVCR1 antisense RNA 1 (head to head) 1 1 1 q32.3 186255942 186257475 - 211097765 211098031 - 213029946 213031480 - 6480464 11943475 642946 Q8TAF5 ABBA01048162;AC104333;AMYH01001713;AY030238;AY030239;NG_028131;NR_027285;NR_027286 AAK51141;AAK51142;Q8TAF5 Hs.552649 1658438 SHGC-38147 LQK1;NCRNA00292 APPROVED miscrna ENSG00000198468 39077 610864 VALIDATED 1321714 FLT3 fms-related tyrosine kinase 3 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. The receptor consists of an extracellular domain composed of five immunoglobulin-like domains, one transmembrane region, and a cytoplasmic kinase domain split into two parts by a kinase-insert domain. The receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jul 2008] 13 13 q12 27475411 27572729 - 28577411 28674729 - 1580863;1598955;2302210;2302211;2302209;2302208;6480464;6907045;7240710 11290608;14566827;10498246;14977818;10786663 17851551;8394751;7507245;19637342;19635202;19603346;19562748;19557552;19540590;19536888;19464057;19411632;19351817;19345670;19330068;19309322;19279329;19221039;19204327;19181784;19181379;19176014;19176010;19151774;19144660;19141860;19085113;19059939;19052993;19052976;19016763;18977345;18955790;18925699;18797870;18755984;18670883;18641025;18605083;18559874;18503825;18490735;18483393;18473998;18464120;18450602;18343790;18336585;18309032;18305215;18303245;18270328;18261272;18192505;18192111;18184863;18156731;18096476;18081718;18071308;18068628;18067020;18067018;18024407;18024405;17983653;17972951;17965322;17957027;17943971;17940205;17936561;17910045;17881646;17881645;17851558;17763464;17690703;17668209;17650443;17620055;17606455;17598835;17584026;17579862;17550846;17498302;17485549;17456725;17442779;17387224;17312001;17268528;17230226;17229632;17128418;17105820;17064989;17056111;17036374;16990788;16990784;16949153;16861351;16809615;16684964;16642044;16598313;16533526;16517725;16502586;16410449;16410383;16368883;16326981;16320249;16263793;16263569;16234090;16213360;16185475;16116483;16076867;16046528;16029447;16015387;15996732;15978940;15973451;15959528;15921740;15902284;15863200;15831474;15797998;15781338;15778081;15770067;15769897;15710585;15674343;15650056;15645287;15604894;15604885;15583855;15574429;15363457;15352981;15345593;15289019;15253381;15242879;15178581;15167911;15166029;15061200;15059064;15054042;15044257;14982881;14981546;14977832;14759363;14737077;14670924;14654525;14630076;14604974;14562119;14504097;12969963;12935959;12926083;12854887;12842996;12816873;12691136;12681969;12676789;12481903;12477932;12468433;12393674;12384447;12239147;12239146;12070009;12060771;12036858;11983110;11971190;11535508;11442493;11133746;11091200;11027663;10698507;10482988;10409713;10080542;10022833;9918857;9651358;9614102;8946930;7789184;7692230;2004790;18394702;7505204;12468438;21269566;21338238;21453545;21148331;19913121;20368469;20504356;20508617;20546020;20592250;20628086;20651067;20678218;20803351;20670134;21523727;20740398;21245599;20861915;23548639;20525753;20656931;20098747;20571062;21114781;20800603;20880116;20959405;20966504;20981678;21067377;15150124;20807885;20872983;21067588;21173125;21180092;20875872;22421058;22972921;17222369;17708786;17708787;17708788;17939400;19296110;19395028;19438505;19466291;19529981;19540337;19549778;19602710;19665070;19672946;19684517;19700852;19765320;19773259;19775300;19808698;19824900;19840437;19853583;19865112;19878996;19915372;19921191;19934300;19956635;19965647;19968062;19995225;20001230;20018615;20023256;20031210;20035824;20039765;20066533;20096459;20119833;20159992;20172040;20182906;20201926;20212254;20237506;20302766;20354824;20368538;20376086;20379614;20439648;20513120;20514303;20515557;20520634;20548095;20815269;22532519;22705992;21516736;21133602;21262971;21048955;21820407;20693296;21233836;21245757;21523728;21114537;21129033;22374696;22438257;22487825;19698218;21487043;20875128;22733614;22605576;23300935;23377000;21674859;21332708;19236740;21552520;21768087;21389326;21516120;12951584;21357706;21527514;21589872;23082484;23603912;23613521;23017497;23124877;21537333;21242187;21520003;21696826;21744003;21907407;22099191;20133893;20137111;21176335;21967978;21606167;22952242;22721497;23127761;23321254;21890473;22129478;22261446;22562027;16982329;22044003;22454318;22458420;22514634;21387358;21621842;21685470;21859732;21860418;22104247;22126602;22208491;22210879;22343664;22084166;20963938;21767516;21789382;22291086;22096027;22126574;22318606;22368270;22591177;22132874;22354205;22378655;22422053;23335073;23479570;22481022;22494415;22736495;23115106;22050655;22807997;23154527;22751451;22858909;22911473;22996295;23377436;23135354;23167317;23167384;23009217;23040356;23238897;23511494;22684224;22674490;23086275;23190472;23430109;23480665;23276395;22858906 2322 E7ER61;P36888;Q5VTU6 ABBA01035730;ABBA01035731;ABBA01035732;ABBA01035733;ABBA01035734;ABBA01035735;ABBA01035736;AL356915;AL445262;AL591024;AMYH01004993;AW057705;BC036028;BC126350;BC144039;BC144040;BI461248;CH471075;L36162;NG_007066;NM_004119;U02687;U82002;Z26652 AAA18947;AAA35487;AAB52916;AAI26351;AAI44040;AAI44041;CAA81393;EAX08424;EAX08425;NP_004110;P36888 Hs.507590 1737419;1760547;1781544;1792132;2112996;2115450;2134803 D13S1380;D13S1716;D13S802;D13S993;PMC137521P1;SHGC-143954;SHGC-143958 CD135;FLK-2;FLK2;STK1 CD135 antigen;FL cytokine receptor;FLT-3;FLT3 receptor tyrosine kinase;OTTHUMP00000018181;OTTHUMP00000214829;STK-1;fetal liver kinase 2;fetal liver kinase-2;fms-like tyrosine kinase 3;growth factor receptor tyrosine kinase type III;receptor-type tyrosine-protein kinase FLT3;stem cell tyrosine kinase 1;tyrosine-protein kinase receptor FLT3 APPROVED protein-coding ENSG00000122025 3765 00635 136351;601626 REVIEWED 1350548 FLRT3 fibronectin leucine rich transmembrane protein 3 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010] 20 20 20 p11 14379950 14393623 - 14252643 14266270 - 14304639 14318313 - 1580863;6480464 10644439;18593871;16303743;15489334;14702039;12975309;12477932;11780052;10819331;22405201;16440004;16344560 23767 Q8NC95;Q9NZU0 AB040902;ABBA01053980;AF169677;AK027297;AK027670;AK027694;AK074883;AK074909;AL132826;AL529481;AMYH01011727;AY358319;BC020870;CD654700;CH471133;CQ782875;DA502792;NM_013281;NM_198391 AAF28461;AAH20870;AAQ88685;ABM82953;ABM86145;BAA95993;BAB55023;BAB55282;BAB55303;BAC11265;BAC11284;CAF86103;EAX10300;EAX10301;NP_037413;NP_938205;Q9NZU0 Hs.41296 1724073;2110409;2137885;2187315 FLRT3__6738;RH118777;STS-H89893;Z94632 HH21 OTTHUMP00000030309;OTTHUMP00000030310;fibronectin-like domain-containing leucine-rich transmembrane protein 3;leucine-rich repeat transmembrane protein FLRT3 APPROVED protein-coding ENSG00000125848 3762 05313 604808;615271 REVIEWED 1353802 FLYWCH1L FLYWCH-type zinc finger 1-like 497263 31915 2923075 FLYWCH1P1 FLYWCH-type zinc finger 1 pseudogene 1 3 3 3 q26.33 178978112 178979960 - 182028486 182030328 - 180545786 180547634 - 100130898 ABBA01058513;AC108734;AMYH01013692;NG_022230 pseudo 38033 INFERRED 737202 FLT1 fms-related tyrosine kinase 1 This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009] 13 13 q12 27774389 27967265 - 28874483 29069265 - 1582493;1580863;1582494;1582498;704404;2289945;1626621;2298727;2313728;2313731;2289084;2289965;2289936;2289963;2289966;2289937;2289948;2289960;2289961;2289962;2289964;2301252;2313719;2313721;2313725;2301251;2301256;2301253;2301254;2313724;2301250;2301255;4891938;5684420;6480464;5684426;5684427;6484113;6907045;6907361 15472115;11839635;12062723;15350351;15785231;16633338;16139132;15610240;17306351;15841074;10475375;12824880;12560388;10604730;11448916;11846206;11857378;12910290;15823121;12485477;17823371;17143550;16816123;14517422;10831352;11929819;11448924;16741021;18566400;10893635;21219633;15681497;21731737;21528367;22170007 20571438;22082645;22264588;22555639;22718299;22962618;11862609;11852061;11824379;11811792;11807987;11806246;11751905;11741094;11693202;11513746;11312102;11289156;11157498;11134362;11056124;10865839;10842181;10749680;10738243;10737800;10642585;10585578;10579917;10543948;10471394;9973224;9931493;9751730;9722576;9600074;9472937;16169405;16095053;16021077;16021053;16005848;15886253;15817662;15817508;15735759;15711751;15705187;15665766;15649874;15610528;15589171;15503825;15492987;15489334;15329326;15284201;15272021;15183893;15166498;15160911;15135240;14996703;14967383;14760936;14687619;14684734;14674128;14654077;14607815;14602804;14585871;14512169;12949011;12920240;12865438;12727995;12670505;12651930;12607599;12543719;12509223;12477932;12439912;12426207;12406876;12133473;12107410;12091880;12023386;11986954;11953105;1312256;8248162;10748050;10194760;2158038;18029348;11278319;19564559;19453261;19452502;19412349;19385972;19352513;19351908;19336504;19330612;19287991;19180491;19165674;19162007;19147226;19135290;19103251;19082506;19066962;19064815;19039203;19020728;19003637;18996083;18992679;18975312;18974372;18931684;18829111;18789115;18779584;18771978;18694994;18691902;18665074;18656381;18639520;18636124;18631405;18627789;18625704;18609713;18604718;18598002;18593464;18566591;18515749;18451223;18421240;18379030;18374411;18356031;18343373;18332870;18330824;18317954;18315732;18295763;18287964;18284215;18264952;18175242;18175241;18097592;18079407;18053608;18037256;18006819;17982238;17975225;17964871;17956955;17956952;17891484;17722983;17696935;17661207;17615362;17599955;17570036;17550303;17507435;17486129;17409768;17379761;17336974;17287067;17259514;17242190;17210583;17197602;17189520;17118734;17109193;17088944;17071533;17013089;16968555;16959214;16835828;16786116;16685275;16671089;16616080;16530326;16496302;16488907;16432214;16344560;16341007;16286478;16251410;16249383;16248895;9452434;9398617;9299537;9269752;9256359;8621427;8126087;8111406;7707437;3115921;3040650;10409677;12796773;12810700;14600159;7657594;20706192;22177802;22386962;22558992;21415391;22315135;23239021;21382012;21389833;16375118;20512933;20515481;19913121;20501651;20602615;20628086;20673868;20842453;21371321;22427682;22828632;19834490;21115742;21300889;21212411;21062661;20615131;20222950;20674013;18304425;18936439;20103598;20103604;20158393;20199197;20484670;20666936;20805333;20395257;20635108;20488538;21867402;14702039;11877075;12366396;17051153;17562275;17633783;19200976;19261502;19269632;19302266;19324337;19350449;19409555;19501525;19608702;19631980;19633424;19658040;19701853;19707156;19716155;19718025;19720604;19734545;19741061;19811263;19816083;19816604;19850021;19860625;19919522;19936766;19948974;20007583;20015944;20026801;20124108;20149032;20164029;20169144;20179233;20223440;20350647;20452482;20453000;9393862;22528855;22819145;19895348;20428821;20491879;20695190;21050477;21097568;20422012;21219538;21345006;20828367;20873967;20948996;21168388;21212275;19068081;21139021;21376261;22955733;20854187;21448460;19528353;21209384;21286681;21447646;21524919;21534854;20030917;21349629;21487788;21518965;21555675;21334711;21585639;21532145;21709213;8605350;21389678;22484977;21343372;21544626;21381877;22000672;22003089;21642504;14633857;21496870;21568945;21715541;19883397;21962138;21827221;21652578;22230112;22690749;23030842;23172303;11908876;19953087;22034638;22153185;22203927;22203933;21751212;22016416;22147121;22294840;21978169;22438952;22581286;15952180;22246525;23190621;23140147;22357551;22173504;23038639;21336717;23113309;23364394;23645757;23195033;22178822;18443354;20661303;21612582;22095559;22734007;22836649;21939291;22487430;22541785;16109918;22348624;22385323;22902831;23059888 2321 B2BF48;B5A923;L7RSL3 AB209050;ABBA01035724;ABBA01035725;ABBA01035726;AF063657;AK092472;AK292936;AK300392;AK309901;AL138712;AL139005;AMYH01004994;BC029849;BC039007;BE180461;BU151621;BX504049;CA396081;CH471075;CQ871317;CS172284;D00133;DA844548;DA851664;DQ836394;DQ836395;DQ836396;EF491868;EF491869;EF491870;EU332841;EU360600;EU368830;EU443152;EU826561;EU826562;HD077716;JF509744;JF509745;JX512442;NG_012003;NM_001159920;NM_001160030;NM_001160031;NM_002019;S77812;S77814;U01134 AAB34001;AAB34002;AAC16449;AAC50060;AAH39007;ABI53803;ABI53804;ABI53805;ABS32268;ABS32269;ABS32270;ABY87530;ACA21474;ACA62948;ACB05747;ACF47597;ACF47598;AFC77954;AFC77955;AGC09589;BAA00080;BAD92287;BAF85625;BAG62125;CAH56859;CAJ33638;CBW44131;EAX08431;EAX08432;NP_001153392;NP_001153502;NP_001153503;NP_002010;P17948 Hs.594454 1339199;1643622;1647692;1675559;1701052;1701642;1714321;1716017;1722915;1723367;1737417;1738403;1741261;1742071;1742971;1797224;1797536;1856835;2111560;2111592;2112994;2118919;2120865;2123917;2128694;2129679;2139296;2163698;2186277 A006Q11;A006V36;D13S1250;D13S1448;D13S1520;D13S1539;D13S1715;D13S1819;D13S666E;D13S992;FLT1-112;FLT1_2504;Flt1;G60554;GDB:180246;GDB:190836;GDB:218013;RH104153;RH104465;RH118501;RH119940;RH122752;RH17924;RH44391;RH47290;RH48311;RH65559;RH70263;WI-7567 FLT;FLT-1;VEGFR-1;VEGFR1 FLT-1;OTTHUMP00000018183;VEGFR-1;fms-like tyrosine kinase 1;fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor);tyrosine-protein kinase FRT;tyrosine-protein kinase receptor FLT;vascular endothelial growth factor receptor 1;vascular permeability factor receptor APPROVED protein-coding ENSG00000102755 3763 01297 165070 REVIEWED 1353824 FLT3LG fms-related tyrosine kinase 3 ligand Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011] 19 19 q13.3 54669298 54681300 + 49977466 49989488 + 1580863;6480464 15226184;14764540;14670916;12969963;12817014;12759428;12676789;12477932;12223523;12036900;12002675;11983110;11956621;11877288;11847009;11721383;11710537;11159533;10881197;10637491;9651358;9590652;7824267;7566977;7505204;8145851;8180375;18982072;18797870;17949888;16487027;15914030;15905588;15728521;15489334;21263155;20628624;20933441;20552015;16169070;19426596;20142363;21516120;22463758;22110249;21505426;23124877 2323 B7ZLY4;M0QXI0;M0QYM9;M0R2K0;M0R3A6;P49771;Q05C96 ABBA01032924;ABBA01032925;AC010619;AI792400;AK301136;AMYH01009912;BC006331;BC011914;BC028001;BC126293;BC136464;BC144129;CH471177;DB490139;NM_001204502;NM_001204503;NM_001278637;NM_001278638;NM_001459;U03858;U04806;U29874 AAA17999;AAA19825;AAA90949;AAA90950;AAH06331;AAH11914;AAH28001;AAI26294;AAI36465;AAI44130;ADR83352;BAG62728;EAW52488;EAW52489;EAW52490;EAW52491;EAW52492;EAW52493;EAW52494;NP_001191431;NP_001191432;NP_001265566;NP_001265567;NP_001450;P49771 Hs.428 5015861;5110924 D10S16;STS-U03858 FL;FLT3L SL cytokine;flt3 ligand;flt3L;fms-related tyrosine kinase 3 ligand APPROVED protein-coding ENSG00000090554 3766 02477 600007 VALIDATED 733488 FLT4 fms-related tyrosine kinase 4 This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008] 5 5 q35.3 179961112 180009206 - 180028506 180076624 - 704404;1580863;1334463;2298727;6480464;6484113;6907361;7240710 15563310;16633338;22170007 19240177;19151999;19066962;19039941;19002718;18973153;18829111;18719607;18642643;18594512;18593464;18564920;18561194;18538739;18538738;18440723;18292935;18279219;18212541;18094729;18008346;18006056;17948123;17945164;17935478;17926187;17761831;17686546;17597103;17539024;17487423;17458866;17088944;17044733;16959214;16755294;16624815;16525637;16335952;16116610;15880525;15878864;15746084;15693535;15474514;15389531;15340161;15297417;15107801;15102829;14760756;14687619;14648657;12881528;12819011;12477932;12393704;12168824;12088335;12048269;11877295;11807987;11553610;10856194;10835628;10579917;9927207;9817924;9435229;8700872;8662748;7970715;7692369;7675451;1327515;16530705;9012504;11574540;8386825;19394045;19301310;19289394;1319394;1310071;12810700;19913121;20628086;20673868;20098747;20606037;18307927;20555004;20431062;14558949;15231748;16044920;16452200;17722983;19556880;19628565;19636022;19701853;19706680;19779139;19787226;19900702;19901262;19924384;19940551;20182906;20223440;20224550;20237496;20452482;9345034;20301417;16375119;20949568;19068081;22844119;22819208;22179834;19099632;21179485;21635552;21163065;11532940;16076871;7898938;19813623;21839498;21909098;21912471;21269982;21972089;21680174;22366442;22404826;22502683;21751212;22016416;22223733;11279005;22939624;23552426;22542663;21805024;19953087;22326635;23074044;22961441;23038639;22745786;22797697;23059885;23059888;23336661 2324 AAB23636;D6RFF2;E9PD35;P35916 AB209637;ABBA01010072;AC122714;AK291679;AK309910;AMYH01015969;AY233382;AY233383;BC027302;CA438330;CH471165;CS067238;CS172288;CS172403;CS172817;CS172819;DB455035;EU826564;EU826565;EU826566;HC040608;HC040723;NG_011536;NM_002020;NM_182925;S66407;U43143;X68203;X69878 AAA85215;AAB23636;AAB28539;AAI67816;AAO89504;AAO89505;ACF47600;ACF47601;ACF47602;BAD92874;BAF84368;CAA48290;CAA49505;CAI84582;CAJ32888;CAJ32905;CAJ33671;CAJ33685;CBH30507;CBH30547;EAW53749;EAW53750;NP_002011;NP_891555;P35916 Hs.646917 1681622;1686306;1764585;5014049 D5S2778;RH80182;RH94055;SHGC-148175 FLT41;LMPH1A;PCL;VEGFR3 FLT-4;OTTHUMP00000161539;OTTHUMP00000223511;OTTHUMP00000223512;VEGFR-3;fms-like tyrosine kinase 4;soluble VEGFR3 variant 1;soluble VEGFR3 variant 2;soluble VEGFR3 variant 3;tyrosine-protein kinase receptor FLT4;vascular endothelial growth factor receptor 3 APPROVED protein-coding ENSG00000037280 3767 00636 136352;153100;602089 REVIEWED 1602659 FLYWCH2 FLYWCH family member 2 16 16 16 p13.3 3138592 3154795 + 2873319 2889357 + 2933196 2949383 + 6480464 12477932;21139048;19322201 114984 I3L1Y9;I3L4I0;Q96CP2 ABBA01026719;ABBA01026720;AC004234;AL542248;AMYH01007085;BC014089;BG120460;BI825861;CA413438;CH471112;DB455461;NM_001142499;NM_001142500;NM_138439 AAH14089;ADR82776;EAW85455;NP_001135971;NP_001135972;NP_612448;Q96CP2 Hs.534525 FLYWCH family member 2;OTTHUMP00000159208;OTTHUMP00000159209;hypothetical protein bc014089 protein-coding ENSG00000162076 25178 14007 VALIDATED 1606303 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011] 1 1 q32.3 211098220 211135379 + 213031597 213072705 + 6480464;7240710 22279524;22483575;10648427;16439531;16368877;15996880;15489334;15369674;14702039;12477932;11943475;10737800;10400745;20610401;17945326;19369334;19416867;20222826;20454576;21070897;21238504;21267618;18815190;9409377;9921862;21593354;21906983;21987572;21963094;23187127;22053931;22505724 28982 B2RB38;H7C3Z2;Q9Y5Y0 ABBA01048162;AC104333;AF118637;AK001419;AK090739;AK314481;AMYH01001713;BC048312;BE088852;BY800024;CH471100;DQ496107;GD138340;NG_028131;NM_014053 AAD45243;AAH48312;ABF47096;BAA91679;BAG37085;EAW93374;NP_054772;Q9Y5Y0 Hs.7055 1337738;1653325;1658438;1686088;1758845;1792846;2142545;2165789;5015861;5037552;7185216;7185938 A002T39;D10S16;D1S217;D8S2279;PMC16555P2;RH64654;SHGC-151048;SHGC-38147;SHGC-76320;SHGC-76322 AXPC1;FLJ33420;FLVCR;MFSD7B;PCA;PCARP OTTHUMP00000035011;OTTHUMP00000035012;feline leukemia virus subgroup C receptor;feline leukemia virus subgroup C receptor-related protein 1;hFLVCR APPROVED protein-coding ENSG00000162769 24682 16451 609033;609144 REVIEWED 1352163 FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010] 14 14 14 q24.3 56083035 56152616 + 75114745 75184263 + 76044940 76114512 + 6480464;7240710 16439531;16344560;15489334;14729055;14702039;12508121;12477932;55640;20206334;20690116;20823265;10737800;20967262 55640 G3V391;G3V458;G3V4G2;G3V5P5;G3V5Q8;G3V5Y3;Q9UPI3 ABBA01030697;AC007182;AF456126;AK000378;AK027804;AK297002;AMYH01005860;AY260572;AY260577;BC001448;BC019087;BC026295;CH471061;CR739521;DA166212;NG_027694;NM_001195283;NM_017791 AAD51374;AAH19087;AAO15528;AAP86633;AAP86638;ADZ16022;BAA91126;BAB55381;BAH12471;EAW81235;NP_001182212;NP_060261;Q9UPI3 Hs.509966;Hs.615289 1675082;1679970;2142312;2165137;5016478;5022200;5037552;5124607 A004T16;D8S2279;GDB:434012;L18426;RH75673;RH91415;SHGC-34049;STS-T79170 C14orf58;CCT;EPV;FLJ20371;FLVCRL14q;MFSD7C;PVHH OTTHUMP00000246171;OTTHUMP00000246172;OTTHUMP00000246174;OTTHUMP00000246594;calcium-chelate transporter;feline leukemia virus subgroup C cellular receptor 2;feline leukemia virus subgroup C receptor-related protein 2;feline virus subgoup C receptor 2 APPROVED protein-coding ENSG00000119686 20105 12654 225790;610865 REVIEWED 1606398 FMN1 formin 1 15 15 15 q13.3 9859583 10161753 - 30853637 31147377 - 33057747 33360085 - 6480464;6484113 19096130;15202026;14647292;12477932;10631086;10199968;1673046;11604498;19605360;20023658;20200978;20379614;20540360;20610440;21975549;8889548;23377640 342184 H0YL93;H0YLM7;H0YM30;H0YMP0;Q68DA7 ABBA01038561;AC018515;AC019278;AC055874;AC090098;AC090877;AC090982;AI040235;AI417633;AL833157;AMYH01006505;BC029107;BC103692;BC107593;BM663620;CR749487;CR749577;HY009284;M38684;M38685;NM_001103184;NM_001277313;NM_001277314;XM_003959945;XM_003960585;XM_003960878 AAI03693;AAI07594;AAI72380;CAH18313;NP_001096654;NP_001264242;NP_001264243;Q68DA7;XP_003959994;XP_003960634;XP_003960927 Hs.657649 1334823;1339016;1659426;1680379;1700304;1715925;1720819;1724971;1750729;1759649;1788842;2120851;2136286;2168119;2185666;5014051;5021872;5022651;5037552 D11S2921;D15S1010;D15S231;D8S2278;D8S2279;G34050;G59385;G67631;GDB:315129;RH103772;RH118773;RH122697;RH39529;RH69350;RH77826;SHGC-112125;SHGC-150907;STS-AA019270;sY3084 DKFZp686C2281;DKFZp686G2387;FLJ45135;FMN;LD;MGC125288;MGC125289 formin (limb deformity);formin-1;limb deformity protein homolog protein-coding ENSG00000248905 3768 07031 136535 VALIDATED 1346259 FLYWCH1 FLYWCH-type zinc finger 1 16 16 16 p13.3 3167373 3206655 + 2901981 2941210 + 2961980 3001209 + 6480464 15146197;14702039;12477932;11230166;10997877;8889548;16169070;15094203;18029348;21139048;19322201 84256 I3L0R3;I3L188;I3L1A7;I3L231;I3L287;I3L4V9;J3KNW1;Q4VC44 AB046772;ABBA01026721;ABBA01026722;ABBA01026723;AC004034;AC004234;AC004235;AK026885;AK055777;AK057022;AK092434;AK127235;AL136585;AMYH01007085;AMYH01007086;BC001973;BC018712;BC028572;BU730169;CH471112;CN359886;NM_020912;NM_032296 AAH01973;AAH18712;AAH28572;BAB13378;BAC86896;BAG51572;BAG51844;BAG52552;CAB66520;EAW85450;EAW85451;EAW85452;EAW85453;EAW85454;NP_065963;NP_115672;Q4VC44 Hs.655321 1672115;1683984;5015861;5015867;5020948;5022200;5022588;5024272;7185938 D10S16;D2S1254;D5S1597E;G35510;GDB:312714;L18426;RH91964;SHGC-60766 FLYWCH-type zinc finger-containing protein 1 protein-coding ENSG00000059122 25404 13222 VALIDATED 2303691 FMO10P flavin containing monooxygenase 10, pseudogene 1 1 1 q24.1 139723660 139773864 + 164867280 164935221 + 166618387 166668597 + 15077013 100128181 ABBA01047258;ABBA01047259;ABBA01047260;AL356005;AL611962;AMYH01001478;NG_009811 1754903;1755391;2165959 AL009639;SHGC-141831;SHGC-142271 APPROVED pseudo 32211 INFERRED 2881129 FMO11P flavin containing monooxygenase 11, pseudogene 1 1 q24.1 139841960 139867153 + 166736807 166762004 + 15077013 100337590 ABBA01047258;AL008639;AMYH01001479;NG_016468 pseudo 32212 INFERRED 1345437 FMN2 formin 2 Formin homology (FH) domain proteins (see FMN1; MIM 136535) play a role in cytoskeletal organization and/or establishment of cell polarity.[supplied by OMIM, Apr 2010] 1 1 1 q43 213510402 213893529 + 238321604 238705112 + 240255185 240638489 + 1580863;6480464 19336575;16710414;15866570;15289902;12477932;12447394;10781961;19913121;20628086;20734064;17554300;19605360;19626040;19955471;20379614;21705804;23535033;23375502;23400010;23437003 56776 B0QZA8;B0QZD5;B4DP05;Q2M1H5;Q9HBL1;Q9NZ56 AB209153;ABBA01033229;ABBA01033230;ABBA01033231;ABBA01033232;ABBA01033233;ABBA01033234;AF218941;AF218942;AF225426;AK297716;AK297755;AK298141;AL359918;AL513342;AL590490;AL646016;AMYH01001875;BC014364;BC112335;BC112361;CH471098;DB476003;DN990332;NM_020066 AAF72884;AAF72885;AAG09728;AAH14364;AAI12336;AAI12362;BAD92390;BAG60071;BAG60417;BAH12659;EAW70082;NP_064450;Q9NZ56 Hs.24889 1676400;1692418;1714513;1725403;1725711;1727481;1754147;1756219;1761851;1764501;1777222;2126932;2155104 AL009721;AL033858;D1S2600;G62053;G62998;RH119019;RH119769;RH65279;SHGC-132176;SHGC-143089;SHGC-145799;SHGC-148105;T03659 OTTHUMP00000037814;formin 2-like;formin-2 APPROVED protein-coding ENSG00000155816 14074 10449 606373 VALIDATED 1322289 FMNL1 formin-like 1 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 17 17 q21 40655075 40680468 + 43299292 43324685 + 1580863;6480464 18029348;19815554;17081983;15489334;15231748;14592423;12684686;12632087;12477932;10958683;9799091;9787083;16169070;20617518;21148482;16055720;21832049;21139048;21890473;21906983;22678362;23182705;23460512 752 K7EJE6;K7EK60;K7EMY8;K7ERL1;O95466 ABBA01028318;AC008105;AF432213;AJ008112;AJ008118;AJ008119;AK131091;AMYH01008441;AMYH01008442;AY278319;BC001710;BC009000;BC021906;BC042925;BC064572;BC073988;BC111564;CH471178;CR456759;FJ534522;NM_005892 AAH01710;AAH09000;AAH21906;AAH73988;AAI11565;AAL99920;AAP32476;ACR19333;BAC85141;CAA07870;CAG33040;EAW51534;EAW51535;EAW51536;EAW51537;EAW51538;NP_005883;O95466 Hs.100217 1664379;1734396;1849938;2109315;2191795 D17S1371E;FMNL1_8237;MARC_7909-7910:1010423816:1;RH11891;WI-16011 C17orf1;C17orf1B;FHOD4;FMNL;KW-13;MGC133052;MGC1894;MGC21878 CLL-associated antigen KW-13;formin-like protein 1;leukocyte formin APPROVED protein-coding ENSG00000184922 1212 06876 604656 REVIEWED 1606996 FMNL3 formin-like 3 The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 12 q13.12 48827398 48896876 - 48317991 48387464 - 50031724 50101197 - 6480464 18029348;15231748;14702039;12684686;12477932;9171351;20862687;21832049;22275430;21139048;22790947 91010 F8VYL1;F8W1F5;Q8IVF7 AB095934;ABBA01031530;AC020612;AK095874;AK127200;AK128195;AL162062;AMYH01004445;BC033181;BC090955;BC159100;BQ707902;CH471111;NM_175736;NM_198900 AAH33181;AAI59101;AAI60099;BAC23110;BAC87319;BAG54450;CAB82400;EAW58086;EAW58087;EAW58088;NP_783863;NP_944489;Q8IVF7 Hs.179838 1649624;1653913;1663511;1683543;2107103;2107795;2109417;2117876;2148137;2191053 FMNL3__6741;HYPC_9405;MARC_13823-13824:1006879352:1;MARC_34442-34443:1063639913:2;RH48030;RH68421;RH77880;RH91412;STS-N63095;WI-17686 DKFZp762B245;FHOD3;FLJ45265;MGC45819;WBP-3;WBP3 OTTHUMP00000241793;OTTHUMP00000241794;OTTHUMP00000241796;WW domain binding protein 3;WW domain-binding protein 3;formin homology 2 domain-containing protein 3;formin-like protein 3 APPROVED protein-coding ENSG00000161791 23698 17007 VALIDATED 1603333 FMO6P flavin containing monooxygenase 6 pseudogene 1 1 1 q24.3 144216786 144240611 + 169373503 169397326 + 171106879 171130702 + 6480464 19898482;16710414;15077013;12527699;12130684;22903471 388714 B5MDN4;O60774 ABBA01027934;AK130511;AL021026;AMYH01001492;NR_002601 Hs.448988 FLJ27001;FMO6 pseudo ENSG00000117507 24024 18387 PROVISIONAL 2881128 FMO7P flavin containing monooxygenase 7 pseudogene 1 1 q24.1 139549310 139556131 + 166443982 166450802 + 15077013 100337589 ABBA01047262;AL583804;AMYH01001478;NG_016467 pseudo 32208 INFERRED 2303673 FMO8P flavin containing monooxygenase 8 pseudogene 1 1 1 q24.1 139640726 139655258 + 164802039 164816572 + 166535415 166549948 + 15077013 100129007 ABBA01047262;AL611962;AMYH01001478;NG_009755 1751693;2115055;2184216 AL010036;D1S3127;SHGC-105743 pseudo 32209 INFERRED 1315771 FMNL2 formin-like 2 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 2 2 2 q23.3 146806351 147120796 + 152899997 153214594 + 153191751 153506348 + 6480464 11572484;19401682;18665374;15231748;14702039;12684686;12477932;22608513;10737800;1538749;20936779;20101212;20379614;21071512;21832049;21496865;21139048;21906983;22952844;22678362;23201162;23382691;22790947 114793 C9IZY8;Q96PY5 AB067489;ABBA01004792;ABBA01004793;ABBA01004794;ABBA01004795;ABBA01004796;ABBA01004797;AC012066;AC012443;AC093794;AI261893;AI498522;AI870367;AI885827;AK094865;AK131316;AL834396;AMYH01011181;AW293867;AW341595;AW811241;BC014343;BC036492;BC113878;BC114438;BC167159;BQ067763;BU633028;CD105119;CH471058;M78344;NM_052905 AAH14343;AAI13879;AAI14439;AAI67159;AAI67804;AAX88959;BAB67795;BAD18479;BAG52944;CAD39058;EAX11485;EAX11486;NP_443137;Q96PY5 Hs.654630 1648823;1659278;1669688;1688508;1703600;1704986;1710340;1751609;1768129;1773625;1775066;2107101;2113900;2118584;2123697;2125520;2125522;2137618;2161841;2168538;2174458;2178013 A004T42;A007E32;A008V06;AB063002;AFM205zh8;D2S2790;D2S2833;FMNL2__6740;NIB74;RH17862;RH44684;RH46422;RH69664;RH70131;SHGC-105594;SHGC-30984;SHGC-33498;SHGC-34582;SHGC-78001;SHGC-78687;SHGC-82422;WI-16286 FHOD2;FLJ37546 OTTHUMP00000204908;formin homology 2 domain containing 2;formin homology 2 domain-containing protein 2;formin-like protein 2 APPROVED protein-coding ENSG00000157827 18267 13545 REVIEWED 731768 FMO4 flavin containing monooxygenase 4 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jul 2008] 1 1 1 q24.3 144392833 144420570 + 169550110 169577847 + 171283486 171311223 + 1580863;6480464 1417778;19307449;16710414;15489334;12527699;12477932;11551524;8702731;8311461;8128486;7720101;20529763;19898482 2329 P31512 ABBA01027932;AL031274;AMYH01001494;AY882422;BC002780;BT007444;CH471067;NM_002022;Z11737 AAH02780;AAP36112;AAW56938;ABM81610;ABM84792;CAA77797;EAW90896;EAW90897;NP_002013;P31512 Hs.386502 1692874;1756959;1770211;1795850;2151755;2162225 D11S4630;FMO4_1400;G42304;RH11097;RH36551;SHGC-144131 FMO2 FMO 4;OTTHUMP00000033541;dimethylaniline monooxygenase [N-oxide-forming] 4;dimethylaniline oxidase 4;hepatic flavin-containing monooxygenase 4 APPROVED protein-coding ENSG00000076258 3772 00632 136131 REVIEWED 734270 FMO3 flavin containing monooxygenase 3 Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Aug 2009] 1 1 q24.3 169326660 169353583 + 171060018 171086959 + 1580863;1626466;1626461;6480464;7240710 16324215;9536088 8104117;8117928;9207220;19356079;19336370;19321370;18443301;18305374;18180394;17885620;17881660;17786630;17584019;17559352;17531949;17257434;17142560;17096187;16996766;16858129;16800822;16710414;16600650;16598836;16481213;16214918;16183778;15623613;15618753;15489334;15203093;12903042;12893987;12814961;12527699;12477932;11809920;11717182;11551524;11266081;11191884;10479479;10338091;9417913;9398858;8654418;8486388;8128486;8125298;7749747;7720103;7568243;5048998;4195988;2203193;1542660;22819296;23266626;20529763;20679960;20734064;21075259;16863467;19571433;19577495;19761368;19898482;20056567;20173083;20182906;20198379;20301282;23510775;23567996;22409263;22903471;23211429;18051367 2328 F5GZZ8;F5H261;P31513;Q53FW5 ABBA01027934;ABBA01027935;AI478384;AK223166;AK296105;AK298406;AK310785;AK313197;AL021026;AMYH01001491;AMYH01001492;AY895830;BC032016;BM453951;CH471067;M83772;NG_012690;NM_001002294;NM_006894;U39960;U39961;U39962;U39963;U39964;U39965;U39966;U39967;Z47552 AAA86284;AAC51932;AAH32016;AAW65372;ABM83355;ABM86569;BAD96886;BAG36013;BAH12258;BAH12779;CAA87632;EAW90886;EAW90887;EAW90888;NP_001002294;NP_008825;P31513 Hs.445350 1674626;1677430;1788486;1788488;1788490;1788492;1788494;1788496;1788498;5037552 D8S2279;G67583;G67584;G67585;G67586;G67587;G67588;G67589;RH1468;RH70128 FMOII;MGC34400;TMAU;dJ127D3.1 FMO 3;FMO II;FMO form 2;OTTHUMP00000033540;dimethylaniline monooxygenase [N-oxide-forming] 3;dimethylaniline oxidase 3;flavin-containing monooxygenase 3;hepatic flavin-containing monooxygenase 3;hepatic flavin-containing monooxygenase-3;trimethylamine monooxygenase APPROVED protein-coding ENSG00000007933 3771 00633 136132;602079 REVIEWED 736452 FMO1 flavin containing monooxygenase 1 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jul 2008] 1 1 q24.3 169484287 169521737 + 171217663 171255113 + 1580863;6480464 1712018;19336370;17127561;16710414;16531493;16183778;15489334;15203093;14702039;12829732;12642475;12527699;12477932;11809920;11725960;10950857;9094723;8486388;8311461;8128486;7720101;21658281;20529763;20734064;15144220;15987777;16863467;19552509;19898482;20056567;21540762;21082301 2326 B7Z3P4;Q01740;Q5QPT3 ABBA01027932;ABBA01027933;AK097039;AK290113;AK296198;AK315100;AL021026;AL031274;AL445673;AMYH01001493;AY879266;BC047129;CH471067;M64082;NM_002021 AAA52457;AAH47129;AAW56076;ADR82682;BAF82802;BAG37562;BAH12280;EAW90892;EAW90893;EAW90894;EAW90895;NP_002012;Q01740 Hs.1424 1688913;1692860;1692870;1701658;1795848;1857393;2138655;2158140 D1S3516;FMO1_632;G16236;G42297;G42302;RH104486;RH79904;SHGC-75897 FMO 1;Flavin-containing monooxygenase 1 (fetal liver);OTTHUMP00000033536;OTTHUMP00000033537;dimethylaniline monooxygenase [N-oxide-forming] 1;dimethylaniline oxidase 1;fetal hepatic flavin-containing monooxygenase 1 APPROVED protein-coding ENSG00000010932 3769 00631 136130 REVIEWED 1354505 FMR3 fragile X mental retardation associated 3 56247 3777 4144950 FMR1-AS1 FMR1 antisense RNA 1 X X q27.3 147342926 147355618 - 146990949 147003676 - 17921506;18213394 100126270 ABBA01054154;ABBA01054155;ABBA01054156;AMYH01023181;EU048200;EU048201;EU048202;EU048203;EU048204;EU251065;EU251066;EU251067;EU251068;FJ887036;L29074;NR_024499;NR_024500;NR_024501;NR_024502;NR_024503 ABV80253;ABV80254;ABV80255;ABV80256;ABV80257 Hs.561999 1711864;1741977;1743509;1743511;1743513;1743801;1743815;1744537;1745261;1745695;1746085;1746087;1787208;1793398;5117346 G49466;G64324;G64325;GDB:187391;GDB:342153;GDB:342159;GDB:342162;GDB:373842;GDB:374079;GDB:512343;GDB:512353;GDB:596304;GDB:631926;PMC21627P1;SHGC-106578 ASFMR1;FMR1-AS;FMR1AS;FMR4 APPROVED miscrna 39081 300805 VALIDATED 733627 FMO2 flavin containing monooxygenase 2 (non-functional) The flavin-containing monooxygenases are NADPH-dependent enzymes that catalyze the oxidation of many drugs and xenobiotics. In most mammals, there is a flavin-containing monooxygenase that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, in some human populations, this enzyme is truncated and likely degraded rapidly. The protein encoded by this gene represents the truncated form and apparently has no catalytic activity. A functional allele found in African Americans has been reported, but no sequence evidence has been deposited to support the finding. This gene is found in a cluster with the FMO1, FMO3, and FMO4 genes on chromosome 1. [provided by RefSeq, Jun 2013] 1 1 q24.3 169421012 169448446 + 171154388 171181822 + 1580863;6480464 9804831;18794725;16710414;15864117;15489334;15355885;14702039;12527699;12477932;11744609;11042094;8889548;8786146;8311461;8128486;7720101;1542660;1417778;20529763;15144220;19420133;19898482;20173083;16344560 2327 Q5JPC7;Q99518 ABBA01027934;AI821378;AK098145;AK304385;AK312877;AL021026;AL833218;AMYH01001493;AY916056;BC005894;BT006979;CA312067;CH471067;DB236882;NM_001460;Y09267 AAH05894;AAP35625;AAW82431;ABM84459;ABM84674;BAG35728;BAG65221;CAA70462;CAI46191;EAW90889;NP_001451;Q99518 Hs.144912 1692858;1788300;1788302;1788304;1788306;1788308;1788310;1788312;2125783;2174285;2218536 FMO2_3015;G42296;G67459;G67460;G67461;G67462;G67463;G67464;G67465;SHGC-75894;STS-Y09267 FLJ40826;FMO 1B1;FMO 2;FMO1B1 FMO 1B1;FMO 2;FMO, pulmonary;OTTHUMP00000033539;dimethylaniline monooxygenase [N-oxide-forming] 2;dimethylaniline oxidase 2;flavin containing monooxygenase 2;pulmonary flavin-containing monooxygenase 2 APPROVED protein-coding ENSG00000094963 3770 04903 603955 REVIEWED 1605888 FMO9P flavin containing monooxygenase 9 pseudogene 1 1 1 q24.1 139678454 139699776 + 164839777 164861099 + 166573153 166594475 + 15077013;12477932 116123 ABBA01047260;ABBA01047261;AL611962;AMYH01001478;BC014341;NR_002925 Hs.348539 1337277;1785976;5015075 D1S2673;SHGC-152377;SHGC-153213 MGC23941 pseudo ENSG00000215834 32210 14011 PROVISIONAL 733168 FMO5 flavin containing monooxygenase 5 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 q21.1 145124462 145163546 - 146655884 146697230 - 1334486;1580863;6480464 8786146 16710414;16344560;16183778;14702039;12527699;12490590;12477932;11551524;11128045;9305407;9119381;8311461;8128486;8125298;7872795;7720101;19834535;19898482;20379614 2330 E9PJF3;E9PP51;E9PQ84;P49326;Q53H53;Q9HA79 ABBA01004398;AC241584;AC242426;AK022172;AK222728;AK225739;AK314647;AL356378;AMYH01001373;AY902236;BC020872;BC035687;CH471223;DA354058;DB230162;L37080;NM_001144829;NM_001144830;NM_001461;Z47553 AAA67849;AAH35687;AAW69390;BAB13975;BAD96448;BAG37208;CAA87633;CAH72648;CAH72649;EAW50939;EAW50940;EAW50941;EAW50942;EAW50943;NP_001138301;NP_001138302;NP_001452;P49326 Hs.642706 1654420;1671962;1681799;1688436;1692430;1701064;1709666;1855203;2124809;2136448;2152806;2157353;2162641;2169621;2218538 AL009757;AL033864;D1S3324;D5S2639;FMO5_314.3;G34829;RH104159;RH47920;RH80671;SHGC-146;SHGC-162;SHGC-184;SHGC-35897;SHGC-85204;WI-18060 FMO 5;OTTHUMP00000016306;OTTHUMP00000016307;OTTHUMP00000231953;OTTHUMP00000231954;dimethylaniline monooxygenase [N-oxide-forming] 5;dimethylaniline oxidase 5;flavin containing monooxygenase;hepatic flavin-containing monooxygenase 5 APPROVED protein-coding ENSG00000131781 3773 04904 603957 REVIEWED 1346520 FMR1NB fragile X mental retardation 1 neighbor X X X q28 147414813 147460151 + 146870541 146915877 + 147062849 147108187 + 737633;6480464 12477932 15489334;14702039;12601173;22808956;17207965;21318630;18029348 158521 F2Z3J3;Q8N0W7 ABBA01054144;ABBA01054145;ABBA01054146;ABBA01054147;ABBA01054148;ABBA01054149;ABBA01054150;AK098602;AMYH01023181;AMYH01023182;AY211917;BC034320;CH471171;L29074;NG_016349;NM_152578 AAH34320;AAO65170;ADQ31608;BAC05349;EAW61291;EAW61292;NP_689791;Q8N0W7 Hs.128580 1705848;2136593 DXS7378;SHGC-81182 CT37;FLJ25736;NY-SAR-35;NYSAR35 OTTHUMP00000024202;cancer/testis antigen 37;fragile X mental retardation 1 neighbor protein;sarcoma antigen NY-SAR-35 protein-coding ENSG00000176988 26372 06546 VALIDATED 735919 FMR1 fragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] X X q27.3 146801201 146840303 + 146993469 147032647 + 1580863;704404;1601178;6480464;7240710 1675488 20727716;17978095;16117724;11545690;21785977;22080836;7692601;10556305;16407062;10888599;12837692;8401578;19642041;19542082;19422761;19396385;19341325;19273535;19265746;19249802;19235102;19215057;19211207;19204162;19197218;19193898;19155329;19147914;19116286;19097999;19056494;19041959;19026394;19005212;18973899;18922172;18789568;18687789;18664458;18656952;18630123;18628788;18583885;18570292;18565783;18553360;18535897;18487560;18472033;18471319;18427356;18413472;18412117;18403614;18384784;18384775;18373410;18357616;18323308;18310677;18310361;18273822;18225979;18211155;18181681;18172867;18165971;18163424;18093976;18074381;18057320;18057083;17966892;17962727;17932962;17922850;17917121;17881655;17850748;17714511;17674408;17620491;17588953;17548778;17506288;17290448;17283214;17196195;17179750;17101793;17097142;17044853;16907702;16905681;16891414;16819831;16793928;16708166;16636078;16508954;16500891;16500716;16456258;16361284;16337617;16319129;16271017;16184602;16161415;16049924;16006558;15971024;15956167;15950084;15930016;15929093;15879417;15861180;15805463;15742217;15741991;15659577;15642922;15629215;15617547;15608041;15563507;15483640;15483045;15381419;15381024;15377638;15300658;15282548;15175277;15121898;15096575;15065016;15000256;14993603;14755444;14747503;14746957;14599277;14570712;12950170;12927206;12810982;12745094;12596051;12594214;12529854;12515381;12477932;16078053;16055059;12417734;12388589;12378270;12232854;12210320;12147688;12116303;12116230;12112763;12107447;11992259;11897823;11854169;11840495;11445641;11443541;11438699;11415517;11367701;11256870;11162447;11142761;11142760;11129329;11119302;10729312;10567518;10527928;10398250;9829913;9659908;9497258;9375856;9302998;8668200;8528261;8515814;8504300;8490650;8401531;8401496;8348153;8156595;8095365;8069329;7825604;7781595;7688265;7670500;7633450;7489725;7141005;2988332;1913811;1757956;1710175;1572655;15696166;20843831;20118148;20597902;20616364;21254876;21276648;20435064;20442204;20629912;20816038;21209411;20734064;20938029;20221430;20573435;20398889;19481741;19778484;20562859;22737234;22924671;15146197;19105204;19361583;19367323;19436069;19487368;19525339;19619908;19712568;19728537;19760650;19764037;19796183;19804849;19806593;19810826;19853235;19863547;19864489;19908235;19927162;20047076;20059484;20082462;20141036;20149747;20168238;20187721;20228389;20298211;20362512;20378415;20410144;20431035;20473314;20537351;8358432;8789445;20955631;19574928;19574929;19794313;21254619;21478165;20981777;21182205;23235829;20961665;23084401;21179569;21295394;21335413;21526209;21270637;21389081;15303970;21576079;21818263;21116185;21639881;21642970;23111161;22811313;21443343;21767618;21427756;21445959;21723415;21903422;21909353;21651511;21868366;21932336;22022567;22118674;21484870;21775729;21597380;21944929;22102001;21047554;21596781;22211843;21749915;21139048;21786216;22797890;23356558;22251309;22579290;21969264;22528549;22808956;22880518;22266345;18632687;22101959;22207187;22387066;22584570;22438971;22586326;22539853;20301558;21567456;21630353;22001913;22157911;22161987;22210492;22235103;22351071;22357842;22489017;22507827;22573456;22619118;22887750;19805454;23392687;22890812;22914733;22963248;23123760;22903700;23154068;21554789;22581803;22984553;23219959;22498846;22797925;22863780;22993428;23560306;22430918;22493044;22561129;22842191;23537988;22708486;23313071;23824909 2332 A8MQB8;F8W871;G3V0J0;G8JL90;G8JLE9;Q06787;Q8IXW7 AB209188;ABBA01054151;ABBA01054152;ABBA01054153;ABBA01054154;AK294104;AK302707;AMYH01023181;BC038998;BC086957;BQ213316;BQ287827;BQ417290;BX498094;CH471171;CK825936;CN315330;CX871385;L19476;L19477;L19478;L19479;L19480;L19481;L19482;L19483;L19484;L19485;L19486;L19487;L19488;L19489;L19492;L19493;L29074;M67468;NG_007529;NM_001185075;NM_001185076;NM_001185081;NM_001185082;NM_002024;NR_033699;NR_033700;S65791;S76590;X69962 AAA52458;AAA62452;AAA62453;AAA62454;AAA62455;AAA62456;AAA62457;AAA62458;AAA62459;AAA62460;AAA62461;AAA62462;AAA62463;AAA62464;AAA62465;AAA62468;AAA62469;AAB18828;AAB18829;AAB18830;AAB18831;AAB18832;AAB18833;AAB28395;AAD14228;AAH38998;AAH86957;BAD92425;BAG57439;BAG63929;CAA49586;EAW61293;EAW61294;EAW61295;EAW61296;EAW61297;EAW61298;EAW61299;EAW61300;EAW61301;EAW61302;EAW61303;NP_001172004;NP_001172005;NP_001172010;NP_001172011;NP_002015;Q06787 Hs.103183 1702250;1711864;1712543;1741405;1741977;1743509;1743511;1743681;1743801;1743815;1745261;1745695;1746085;1746087;1746683;1775002;1787208;1795852;2122677 FMR1_634;G49466;G64324;G64325;G64326;GDB:181087;GDB:187391;GDB:190037;GDB:342153;GDB:342159;GDB:370773;GDB:373842;GDB:374079;GDB:596304;GDB:631926;L23971;SHGC-106578;STS-X69962;WI-18960 FMRP;FRAXA;MGC87458;POF;POF1 OTTHUMP00000024197;OTTHUMP00000024199;OTTHUMP00000024200;OTTHUMP00000024201;fragile X mental retardation 1 protein;fragile X mental retardation protein 1;fragile x mental retardation syndrome 1 homolog;premature ovarian failure 1;protein FMR-1 APPROVED protein-coding ENSG00000102081 3775 02398 300623;300624;309550;311360 REVIEWED 7174910 FNBP1P1 formin binding protein 1 pseudogene 1 2 74347810 74350343 + 100533642 ABBA01075598;AC073263;AMYH01010452;AMYH01010453;NG_028779 pseudo 44528 INFERRED 1353289 FMOD fibromodulin Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 q32 201576375 201586912 - 203309752 203320289 - 1580863;2315073;2315079;2311412;2311416;6480464 19955224;15196146;16868749;11259366 7851907;8093006;19041686;19008226;18838168;18620607;18448071;17623650;17293598;16046396;15741214;15471955;14702039;12477932;11400162;11012890;9688269;9573366;8889548;8357838;7919526;19242838;19422643;19536175;19700767;19710942;15592176;16123076;16344560;17117407;17252022;17395685;19474808;20813009;21671058;21743019;22622142;22073367;22138190;20467438;23251661 2331 Q06828;Q12833 ABBA01027482;AK092899;AK172740;AK291632;AK303866;AL359837;AL542756;AMYH01001655;BC035281;BQ183885;BQ188750;CH471067;DA918421;DC296345;HH958029;NM_002023;NR_103757;U05291;X72913;X75546 AAA16153;AAH35281;ABM83038;ABM86232;BAF84321;BAG52626;BAG54775;BAG64805;CAA51418;CAA53233;CBX51278;EAW91477;EAW91478;NP_002014;Q06828 Hs.519168 1649559;1666284;1666286;1712238;1754001;1781794;2107105;2118301;2129036;2136552;2142769;5017574 AL009277;AL009327;D1S3290;FMOD;FMOD__6742;G34807;G54027;RH70538;RH71292;SHGC-132049;SHGC-156039;WI-7331 FM;SLRR2E FM;KSPG fibromodulin;OTTHUMP00000034098;collagen-binding 59 kDa protein;fibromodulin;fibromodulin proteoglycan;keratan sulfate proteoglycan fibromodulin APPROVED protein-coding ENSG00000122176 3774 02591 600245 REVIEWED 7174903 FNBP1P2 formin binding protein 1 pseudogene 2 3 30850170 30851188 - 100419875 ABBA01024960;AC138391;AMYH01013054;NG_025560 pseudo 44527 INFERRED 1352740 FND frontonasal dysplasia 2336 3779 1350348 FN3K fructosamine 3 kinase A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012] 17 17 q25.3 78286797 78302362 + 80693452 80709073 + 1580863;6480464 11016445;16920277;16523184;16037310;15489334;15381090;15331600;15102834;14702039;14641062;12477932;11975663;11522682;21253391;21288167;19834870;20858683;21924559 64122 B4DH12;Q9H479 ABBA01019700;ABBA01019701;AC024361;AJ404615;AK054838;AK294871;AMYH01008741;AMYH01008742;BC042680;CH471099;NM_022158 AAH42680;BAG51431;BAG57973;CAC16393;EAW89819;EAW89820;NP_071441;Q9H479 Hs.151135 fructosamine-3-kinase APPROVED protein-coding ENSG00000167363 24822 16336 608425 VALIDATED 736627 FN1 fibronectin 1 This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 q34 215933422 216009036 - 216225177 216300791 - 1580863;1358624;704404;1601179;6480464;6484113;6907045;7206842;7205469;7205473;7205637;7206843;7206844;7205466;2325720;7240710;7205460;7205461;7205629;7206838;7206839;7205470;7205474;7205680;729934;7206845;7205684;7206847;7206846;7205459;7205701 12621118;12716757;19616291;7806580;12218318;20860816;16301823;15925904;14986037;19695229;19097859;17324142;11352844;22937115;20484935;12651615;12065530;20012564;11768240;11213886;12884040;10082755;11025758;20347014;6665521 20495339;21160032;21178109;3024962;10075919;1423622;3997886;7989369;16236823;15308636;444675;14718574;19564406;19404402;19345424;19251642;19224684;19161998;19160003;19094228;19037100;19020673;18958156;18957516;18829569;18824166;18810851;18801363;18776591;18716775;18713862;18690341;18633626;18577581;18499669;18474427;18451144;18451110;18348696;18343220;18340378;18332212;18313373;18268355;18083324;18064631;18042364;18006840;17949711;17929131;17879163;17704536;17636193;17596138;17554369;17526550;17512904;17490871;17468934;17425334;17416372;17273763;17266699;17187346;17136547;17081983;17027088;17015452;17003032;16986166;16984808;16982604;16978691;16928957;16839338;16757476;16621928;16495290;16378831;16375583;16336961;16335952;16322219;16277979;16159961;16150826;16106752;15456743;15456495;15384859;15331608;15265957;15247227;15231748;15213410;15161923;14760718;14737076;14709558;14702039;14695199;14662883;14645245;14602715;14558920;12917446;12902636;12810082;12802498;12761244;12736686;12631068;12538576;12538453;12535082;12527107;12497612;12486316;12477932;12468382;12401883;12388756;12270980;12225811;12225805;12180907;12149247;12127832;12105189;12100475;12091360;12069579;12034705;11981027;11960984;11956183;16091757;16083879;16055535;15961545;15912204;15890670;15855153;15799029;15721303;15717924;15699160;15652337;15645125;15609325;15485890;15467744;11937267;11928812;11891225;11867643;11867580;11864705;11847210;11832485;11829448;11801679;11801638;11795204;11775745;11773026;11752017;11751853;11737888;11686302;11605051;11500098;11423128;11419941;11344214;9117345;9016396;8997243;8905624;8756760;8599839;8548820;8468356;8449034;8308892;8168508;8120888;8120056;8063866;7963647;7690138;7583666;7559467;7519849;7499434;7493623;7050098;6981115;6693419;6688418;6630202;6462919;6304699;6200322;6092370;4019516;3997552;3988746;3943369;3900070;3770201;3770189;3593230;3478690;3375063;3031656;11342427;11311202;11285216;11285119;11276204;11157741;11149921;11134254;11023498;11010812;10848816;10783396;10772816;10647176;10470109;10470078;10464263;10196121;9837825;9733622;9651579;9636140;9626063;9514732;9501082;9361795;9339851;9334230;9211865;9169408;3021206;3003095;2992939;2992573;2989004;2867902;2822387;2745554;2531657;2414772;2229073;2012601;1694173;1532572;1468447;1409674;1400330;1372909;1311202;9443108;1875953;8173552;10706716;8952048;12119179;8997639;1959621;11180285;10451539;18276110;8360181;7500359;12127836;11493006;1730778;15331737;8663002;2138612;11423542;8798654;12119020;15806100;10823831;22531343;22641031;21131589;21148425;19913121;20403349;20506163;20628086;20628624;20672350;20673868;21508391;17459242;19903114;20029029;20161770;20232238;20470202;20364278;19893244;20811396;20489157;20600851;20819642;16463680;20357207;20505078;19760097;19821053;20686611;19847669;20552237;20628340;20671107;20851879;20725648;21036738;20530259;20643357;11997396;15165854;16005629;1632457;16581250;16933105;18334936;19212764;19342448;19391127;19417080;19460753;19541353;19542224;19553700;19581300;19617627;19701604;19701759;19730683;19834535;19880379;19893454;19914350;19935699;20007695;20043904;20097172;20097751;20145126;20210243;20452482;20463177;20201928;20672308;20638438;21036168;21330459;19031824;21138686;20419094;21325030;20708078;20814177;21098633;21472136;20670094;20939933;15835821;21969082;22918248;20359090;22339947;22716248;21768108;21429937;21573010;21078624;21861843;21924268;15060148;21876142;23201304;23217101;23750785;21190414;18624398;21942715;22009740;22048274;21691075;21840989;21224775;21961600;21139048;21890473;23142796;23341464;23485472;23643164;11024059;21824169;22496919;22514602;22523280;19471022;21311138;21347378;21630266;21980357;22219202;22319020;22351755;22318606;22586326;22378065;16498633;9751722;22674303;22896658;23509360;15174051;18323857;19738201;21150319;21988832;22936677;23056244;23238252;22782528;22919069;23288153;23098431;22705941;22848537;22241990;22699679;22837202;23116545;23622001;23029023;23201264 2335 F8W7G7;H0Y4K8;H0Y7Z1;Q6MZF4;Q6MZM7;Q6N084;Q96KP7;Q9UQS6 AB191261;AB209287;AB209840;ABBA01062789;ABBA01062790;ABBA01062791;ABBA01062792;AC012462;AC073284;AF130095;AF312399;AI033037;AJ276395;AJ320525;AJ320526;AJ320527;AJ535086;AJ849445;AK026737;AK094153;AK297733;AK300216;AK300246;AK300458;AK316350;AL832202;AL832771;AMYH01011488;BC005858;BC016875;BC078656;BC100030;BC117176;BC143754;BC143763;BQ005645;BT006856;BX537590;BX538017;BX538018;BX538045;BX640608;BX640638;BX640731;BX640802;BX640803;BX640875;BX640920;BX640999;BX641150;BX649182;CH471063;CR749281;CR749316;CR749317;CR749666;CR936623;EF550130;EF550131;EF550132;EF550133;EF550134;EF550135;M10905;M12549;M14059;M14060;M15801;M18179;M27589;M27590;NG_012196;NM_002026;NM_054034;NM_212474;NM_212476;NM_212478;NM_212482;U41724;U41850;U42404;U42455;U42456;U42457;U42458;U42592;U42593;U42594;U60067;U60068;X02761;X07717;X07718 AAA52461;AAA52462;AAA52463;AAA52464;AAA52465;AAA52466;AAA53376;AAA58483;AAD00013;AAD00014;AAD00015;AAD00017;AAD00018;AAD00019;AAD04751;AAD09448;AAD09449;AAD09450;AAD10853;AAD11500;AAG30571;AAG35520;AAH05858;AAH16875;AAI17177;AAI43755;AAI43764;AAP35502;AAX76513;AAY24063;ABR68534;ABR68535;ABR68536;ABR68537;ABR68538;ABR68539;ACE86693;ACE87377;BAD52437;BAD92524;BAD93077;BAG60083;BAG61984;BAG62013;BAG62178;BAH14721;CAA26536;CAB52436;CAB52437;CAC20427;CAC86914;CAC86915;CAC86916;CAD59389;CAD91166;CAD97791;CAD97964;CAD97965;CAD97984;CAE45714;CAE45786;CAE45847;CAE45885;CAE45932;CAE45958;CAE46002;CAE46200;CAH18136;CAH18171;CAH18172;CAH18457;CAH60958;CAI56766;EAW70530;EAW70531;EAW70532;EAW70533;EAW70534;EAW70535;EAW70536;EAW70537;EAW70538;EAW70539;EAW70540;EAW70541;EAW70542;EAW70543;EAW70544;EAW70545;EAW70546;EAW70547;EAW70548;NP_002017;NP_473375;NP_997639;NP_997641;NP_997643;NP_997647;P02751 Hs.203717 1335951;1336446;1338448;1340227;1650831;1674654;1697460;1698690;1704552;1741491;1791572;2139816;2149747;2156569;2178090;2185345;2190595;5015619;5015861;5120540;5124732;7185938 D10S16;D11S3114;D1S249;D1S2782;D1S2872;D1S2891;D2S2635;FN1;GDB:181245;GDB:344700;PMC115222P2;RH102231;RH102905;RH47963;RH78451;RH98726;SHGC-11640;SHGC-33209;SHGC-57713;SHGC-83082;WIAF-2175 CIG;DKFZp686F10164;DKFZp686H0342;DKFZp686I1370;DKFZp686O13149;ED-B;FINC;FN;FNZ;GFND;GFND2;LETS;MSF OTTHUMP00000164053;OTTHUMP00000164054;OTTHUMP00000164055;OTTHUMP00000164056;OTTHUMP00000206760;OTTHUMP00000206762;OTTHUMP00000206763;OTTHUMP00000206765;OTTHUMP00000206766;OTTHUMP00000206767;cold-insoluble globulin;fibronectin;migration-stimulating factor APPROVED protein-coding ENSG00000115414 3778 00626 135600;601894;614101 REVIEWED 6481027 FNDC1-IT1 FNDC1 intronic transcript 1 (non-protein coding) 100874312 AL590551 miscrna 41460 1352769 FNDC2 fibronectin type III domain containing 2 387083 21183 1321663 FNDC1 fibronectin type III domain containing 1 6 6 6 q25 160238286 160340329 + 159510417 159613130 + 159590429 159693140 + 6480464 16098131;14657397;12477932;11347906;9704633;20379614;21606135 84624 J3KNQ2;Q5VXX4 AB058769;ABBA01021071;AJ586132;AK127635;AL355492;AL356417;AL590551;AL832410;AMYH01016798;BC146783;BC150607;CH471051;DQ009660;NM_032532 AAI46784;AAI50608;AAY26234;BAB47495;BAG54537;CAE51894;CAI46178;EAW47634;NP_115921;Q4ZHG4 Hs.520525 1664115;1763945;1847907;1854706;2107109;5093604 A009S31;FNDC1__6745;G32816;RH37578;RH78353;SHGC-147606 AGS8;FNDC2;KIAA1866;MEL4B3;RP11-243O10.2;bA243O10.1;dJ322A24.1 OTTHUMP00000017519;OTTHUMP00000207496;activation-associated cDNA protein;expressed in synovial lining protein;fibronectin type III domain containing 2;fibronectin type III domain-containing protein 1 protein-coding ENSG00000164694 21184 13547 609991 VALIDATED 4889207 FNDC3CP fibronectin type III domain containing 3C, pseudogene X X 77662269 77666710 - 77421193 77425634 - 100421340 ABBA01029561;AL049589;AMYH01022631;NG_026723 pseudo 35452 INFERRED 1343110 FNDC3B fibronectin type III domain containing 3B 3 3 3 q26.31 170157091 170517099 + 173312936 173601181 + 171757418 172118493 + 737633;6480464 12477932 19472311;16303743;15527760;14702039;12975309;8125298;18029348;22510613;20237496;20379614;19322201;18781797;21987572;21139048;20881960;23291589 64778 A8MYM6;C9JKH7;Q8IXB2 AB098597;ABBA01058653;ABBA01058654;ABBA01058655;ABBA01058656;AC069259;AC069523;AC092964;AC108668;AF543840;AI417065;AK027052;AK075220;AK092465;AK127826;AK223599;AK314478;AL157482;AMYH01013651;AMYH01013652;AY358146;AY358367;BC012204;BC026005;BC033635;BC039297;BX648340;BX648415;CH471052;NM_001135095;NM_022763 AAH12204;AAH33635;AAH39297;AAN65261;AAQ88513;AAQ88733;BAB15639;BAC11480;BAC53727;BAD97319;BAG37083;BAG54580;CAB75672;EAW78470;EAW78471;EAW78472;EAW78473;EAW78474;EAW78475;EAW78476;EAW78477;NP_001128567;NP_073600;Q53EP0 Hs.744888 1340358;1342408;1645596;1648991;1650716;1667239;1699482;1705654;1708600;1735300;1751647;1850514;1852288;1856167;2119474;2122055;2132278;2141263;2143166;2149636;2149638;2152072;2172966;2184272;2186602;2186950;5022578;5024039;5037552;5093662;5093756;5111580;5126241 A006A36;A008K41;A009U32;A009W07;D16S325;D1S1423;D3S1525;D3S2940E;D3S3332;D3S3342;D3S3725;D3S4080;D8S2279;G20658;G29199;G32850;G32905;RH103334;RH36359;RH47715;RH65401;SGC44328;SHGC-105609;SHGC-44328;SHGC-58237;SHGC-77543;SHGC-77544;SHGC-77545;SHGC-77546;SHGC-77551;SHGC-83401;SHGC-85090;WI-12636 DKFZp686D14170;DKFZp762K137;FAD104;FLJ23399;MGC10002;PRO4979;YVTM2421 HCV NS5A-binding protein 37;OTTHUMP00000210532;OTTHUMP00000210534;OTTHUMP00000210535;factor for adipocyte differentiation 104;fibronectin type III domain-containing protein 3B protein-coding ENSG00000075420 24670 10943 611909 VALIDATED 1350700 FNBP1 formin binding protein 1 The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008] 9 9 q34 131689287 131845294 - 132649466 132805473 - 6480464 15252009;19155218;18923421;17512409;16964243;16630611;16418535;16326391;16318909;16193335;15592455;15489334;15302935;15164053;15144186;15047863;14702039;14596906;12736724;12477932;12244061;12023017;11438682;11431473;9628581;21768103;20729836;20562859;12421766;14502124;14732713;19041431;20379614;22558309;22939629;21890473;21906983;19322201;22505724 23048 E7EPB7;E9PGQ4;H0Y7W6;Q9NWD1 AB011126;ABBA01043952;ABBA01043953;ABBA01043954;ABBA01043955;ABBA01043956;ABBA01043957;ABBA01043958;ABBA01043959;ABBA01043960;ABBA01043961;ABBA01043962;AF265550;AK000975;AK001616;AK023681;AK090963;AK293743;AL049935;AL136141;AL158207;AL832949;AMYH01021765;AW575478;AY952886;BC009262;BC018159;BC062463;BC101755;BC143513;BC143514;BC143515;CH471090;CK005680;NM_015033 AAH62463;AAI01756;AAI43514;AAI43515;AAI43516;AAK49824;BAA25480;BAA91451;BAB14638;BAG57166;EAW87916;EAW87917;EAW87918;EAW87919;NP_055848;Q96RU3 Hs.189409 1662144;1665975;1666529;1672630;1724363;1853980;2120750;2120752;2121297;2128189;2145651;2167307;5016478;5022576 A001Z42;D1S1361;D9S1026E;D9S2080;D9S63;G17305;G19830;GDB:434012;RH11589;RH122344;RH12506;RH68067;SGC33386;SGC38089 FBP17;KIAA0554;MGC126804 OTTHUMP00000022353;OTTHUMP00000022354;OTTHUMP00000022355;formin-binding protein 1;formin-binding protein 17;hFBP17 APPROVED protein-coding ENSG00000187239 17069 10446 606191 REVIEWED 1319467 FNBP4 formin binding protein 4 11 11 11 p11.2 47885438 47936813 - 47694645 47745443 - 47738069 47788993 - 6480464 10748127;15302935;15231748;15146197;14702039;12477932;12421765;11292345;10744724;10231032;11604498;22558309;19471022;21693764;18029348;21963094;22113938 23360 B3KNP0;F5GXL1;Q8N3X1 AB023231;ABBA01060692;ABBA01060693;AC021443;AK022987;AK054636;AK095093;AK123898;AL137480;AMYH01003549;AMYH01003550;AMYH01003551;BC006557;BC037404;BX537864;CH471064;DB458472;NM_015308 AAH37404;ACE86837;ACE87524;BAA76858;BAB14348;BAG51402;CAB70761;CAD97867;EAW67884;EAW67885;EAW67886;EAW67887;EAW67888;NP_056123;Q8N3X1 Hs.6834 1652555;1655519;1669512;1675483;1677598;1679988;1696884;1858421;2127376;2167752;2190977 D11S4287;MARC_12213-12214:1004716951:1;RH12267;RH12348;RH48286;RH75140;SHGC-13980;SHGC-33749;SHGC-33760;WI-12656;f02503rbk DKFZp686M14102;DKFZp779I1064;FBP30;FLJ41904;KIAA1014 OTTHUMP00000233270;formin-binding protein 30;formin-binding protein 4 protein-coding ENSG00000109920 19752 10996 615265 VALIDATED 1606224 FN3KRP fructosamine 3 kinase related protein A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 17 17 q25.3 78267895 78279149 + 80674582 80685893 + 6480464 21145461;18637789;17686456;16920277;16344560;16037310;15489334;15381090;15137908;14702039;14633848;12477932;11230166;20858683;19615732;17207965;21832049;21139048;21890473;21906983;21628590 79672 F5H4E4;I3L139;I3L2G3;I3L2K8;I3L378;I3L3W5;I3L407;Q9HA64 AA766235;ABBA01019699;AC024361;AK022233;AK293523;AK301958;AK315373;AL136631;AMYH01008741;AY360465;BC001458;BC007611;BC014408;CH471099;CR533461;DA019669;NM_024619;NR_046408 AAH01458;AAH07611;AAH14408;AAQ72344;ADQ32662;BAB13992;BAG37766;BAG57005;BAG63372;CAB66566;CAG38492;EAW89817;EAW89818;NP_078895;Q9HA64 Hs.31431 2149810;5024246 D17S724;RH12502 FLJ12171;FN3KL FN3K-RP;FN3K-related protein;fructosamine-3-kinase-related protein;ketosamine-3-kinase APPROVED protein-coding ENSG00000141560 25700 13546 611683 VALIDATED 1346897 FNBP1L formin binding protein 1-like The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 p22.1 93737613 93792806 + 93913688 94020218 + 6480464 14654988;19342671;19213734;18191793;16885158;16757518;16710414;16630611;16418535;16326391;16169070;15489334;15260990;14702039;12477932;20730103;16344560;20379614;21062739;22939629;21906983 54874 B4DSI7;J3QSS4;Q5T0N5 ABBA01045523;ABBA01045524;ABBA01045525;AC095034;AK000282;AK025526;AK026988;AK296767;AK299760;AK299943;AK315981;AL109613;AL512651;AMYH01000802;AX058596;AY514449;BC062477;BC074891;BC074892;BX476921;CH471097;DB219295;DW423801;NM_001024948;NM_001164473;NM_017737 AAH62477;AAH74891;AAH74892;AAR98814;BAA91051;BAG59347;BAG61649;BAG61773;BAH14352;CAC22513;EAW73069;EAW73070;EAW73071;NP_001020119;NP_001157945;NP_060207;Q5T0N5 Hs.743249 1744295;1744297;2126671;2168963;2178272;2179923 G13388;GDB:451589;GDB:451598;SHGC-75167;SHGC-75173;UniSTS:494596 C1orf39;TOCA1 OTTHUMP00000012558;OTTHUMP00000012573;OTTHUMP00000012574;formin-binding protein 1-like;toca-1;transducer of Cdc42-dependent actin assembly 1;transducer of Cdc42-dependent actin assembly protein 1 APPROVED protein-coding ENSG00000137942 20851 12317 608848 REVIEWED 1603304 FNDC8 fibronectin type III domain containing 8 17 17 17 q12 30358824 30367943 + 30472744 30481864 + 33448631 33457751 + 6480464 12477932 54752 Q8TC99 ABBA01011226;AC022916;AK225743;AK313775;AL133054;AMYH01008353;BC024002;BI829497;CH471147;HC006912;NM_017559 AAH24002;ACE86521;ACE87200;BAG36513;CAB61380;CBH19261;EAW80168;NP_060029;Q8TC99 Hs.120369 DKFZp434H2215 OTTHUMP00000163856;fibronectin type III domain-containing protein 8 protein-coding ENSG00000073598 25286 13191 VALIDATED 1348160 FNDC5 fibronectin type III domain containing 5 This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 1 1 1 p35.1 31596509 31606718 - 33100464 33108934 - 33327869 33338082 - 6480464 14702039;12477932;12384288;11591653;16344560;23018146;22237023;21266472;22491843;22796012;23001918;23107305;23219488;23369227;23436919;23578923;23619195;23637927;23665283;23667695 252995 Q8NAU1 ABBA01023392;ABBA01023393;ABBA01023394;ABBA01023395;ABBA01023396;ABBA01023397;AC114493;AK092102;AMYH01000473;AMYH01000474;BC007548;BC033123;BC062297;BE502835;BX537781;CH471059;CV815003;DA393478;NM_001171940;NM_001171941;NM_153756 AAH62297;BAC03806;CAD97840;EAX07499;EAX07500;EAX07501;EAX07502;NP_001165411;NP_001165412;NP_715637;Q8NAU1 Hs.524234 2122435;2132715;2138403;2182973;5095744 D1S3028;D1S3615;G60185;SHGC-74541;SHGC-74545 FRCP2;irisin OTTHUMP00000004134;OTTHUMP00000004135;fibronectin type III domain-containing protein 5;fibronectin type III repeat-containing protein 2;irisin protein-coding ENSG00000160097 20240 17009 611906 REVIEWED 1348472 FNL1 fibronectin-like 1 3943369 2337 3780 1604516 FNDC7 fibronectin type III domain containing 7 1 1 1 p13.3 107525376 107555183 + 109066556 109086888 + 109255556 109285371 + 6480464 14702039;12477932;22318606 163479 H7C2H6;J3KN65;Q5VTL7 ABBA01068354;AK093157;AL591719;AMYH01000926;BC057762;BC130421;BC144218;CH471122;NM_001144937 AAH57762;AAI30422;BAC04077;EAW56329;NP_001138409;Q5VTL7 Hs.258253 FLJ35838;MGC163293;RP11-293A10.2 OTTHUMP00000012822;fibronectin type III domain-containing protein 7 protein-coding ENSG00000143107 26668 08195 PROVISIONAL 1606861 FNDC9 fibronectin type III domain containing 9 5 5 5 q33.3 152795154 152799278 - 156701185 156705307 - 156768607 156772729 - 6480464 18029348;16344560;12477932;17207965 408263 E5RIJ1;Q8TBE3 ABBA01044272;AC016571;AK289701;AMYH01015744;BC022570;CH471062;DA173480;DB567325;NM_001001343 AAH22570;ADQ32821;BAF82390;EAW61607;NP_001001343;Q8TBE3 Hs.437066 1776897;5094938 CYFIP2;L31454 C5orf40;MGC27121 OTTHUMP00000160741;OTTHUMP00000224100;fibronectin type III domain-containing protein 9;fibronectin type-III domain-containing protein C5orf40 APPROVED protein-coding ENSG00000172568 33547 17524 VALIDATED 1348177 FNTAP2 farnesyltransferase, CAAX box, alpha pseudogene 2 13 13 13 q12.11 3166903 3168070 + 21002728 21004068 + 22104828 22105995 + 12956414;8276393 2341 ABBA01068607;AL138680;AMYH01004959;NG_005138 1689075;7187390 D8S1675;RH68982 FNTAL2 APPROVED pseudo 3784 INFERRED 1354235 FNDC3A fibronectin type III domain containing 3A 13 13 13 q14.2 30605901 30839799 + 48448049 48681916 + 49550048 49783915 + 6480464 18029348;18218838;17081983;15489334;15057823;14702039;12477932;12168954;10231032;8889548;21832049;19322201 22862 G5E9X3;H7C507;Q6P9D5 AB023187;ABBA01051013;ABBA01051014;ABBA01051015;AJ749706;AJ749707;AK001140;AK056071;AK172814;AK302415;AL137000;AL161421;AL359184;AMYH01005104;AMYH01005105;AMYH01005106;AMYH01005107;BC036010;BC051029;BC060816;BC070072;BC107793;BC132812;BC136617;BC144301;BM973827;BX640739;BX648141;BX648706;CH471075;DB460317;NM_001079673;NM_001278438;NM_014923;NR_103528 AAH60816;AAH70072;AAI32813;AAI36618;AAI44302;BAA76814;BAD18784;BAG63723;CAE45852;CAG44602;CAG44603;CAI45989;EAX08803;EAX08804;EAX08805;EAX08806;EAX08807;EAX08808;EAX08809;EAX08810;NP_001073141;NP_001265367;NP_055738;Q9Y2H6 Hs.508010 1653829;1660116;1660990;1672771;1681732;1690410;2127959;2130683;2168955;2173408;2176503;5015961;5022200;5092804 A005T12;A006G05;D13S1171;D15S1477;G28207;G32341;L18426;RH44749;RH45056;RH45787;RH47134;RH69432;RH98674;WI-18286 FLJ31509;FNDC3;HUGO;KIAA0970;RP11-203I16.5;bA203I16.1;bA203I16.5 OTTHUMP00000018404;OTTHUMP00000214998;OTTHUMP00000214999;OTTHUMP00000215000;fibronectin type-III domain-containing protein 3A;human gene expressed in odontoblasts protein-coding ENSG00000102531 20296 13548 VALIDATED 1347225 FNTBL1 farnesyltransferase, CAAX box, beta-like 1 8276393 2343 3786 1606476 FNIP1 folliculin interacting protein 1 5 5 5 q23.3 127107692 127262904 - 131005306 131160655 - 130977407 131132756 - 6480464 18804346;17028174;12477932;11853319;20562859;18663353;21890473;22709692;19914239;22190034 96459 E9PCH4;J3KNG8;Q8TF40 AB075841;ABBA01068821;AC005593;AC008695;AK126675;AK292473;AL832008;AL834127;AMYH01015612;BC001956;CH471062;CR749426;CR936723;DQ145719;NM_001008738;NM_133372 AAH01956;AAI56496;AAI72496;AAZ65854;BAB85547;BAF85162;BAG54356;CAD91145;CAH18264;EAW62364;NP_001008738;NP_588613;Q8TF40 Hs.591273 1688807;1696512;1697448;1716963;1729115;2131209;2132793;2181047 G49476;RH102225;RH121862;RH91240;SHGC-83150;STS-N34482;WI-12703;WI-17870 DKFZp686E18167;DKFZp781P0215;KIAA1961;MGC667 OTTHUMP00000222531;OTTHUMP00000222533;OTTHUMP00000222534;OTTHUMP00000222535;folliculin-interacting protein 1 protein-coding ENSG00000217128 29418 17233 610594 VALIDATED 1601813 FOLH1B folate hydrolase 1B 11 11 11 q14.3 85199516 85237920 - 89032113 89071534 + 89392465 89431886 + 6480464 14716746;9838072;17160644;19243386;19678840;8417812;9691167 219595 Q9HBA9 ABBA01011516;ABBA01011517;AF261715;AMYH01003871;AP003122;AY544126;NM_153696;U93598;U93599 AAG29102;AAI56241;AAI57014;AAT11157;NP_710163;Q9HBA9 Hs.645352 1683441;1685475;2109317 FOLH1_8354;RH69652;RH71396 FOLH2;FOLHP;GCP3;GCPIII;PSM;PSMA-LIKE;PSMAL N-acetylated-alpha-linked-acidic dipeptidase;NAALADase;cell growth-inhibiting gene 26 protein;folate hydrolase 2;folate hydrolase pseudogene;glutamate carboxypeptidase III;prostate-specific membrane antigen-like protein;putative N-acetylated-alpha-linked acidic dipeptidase;putative folate hydrolase 1B protein-coding 13636 07150 609020 PROVISIONAL 1350008 FNTAP1 farnesyltransferase, CAAX box, alpha pseudogene 1 11 11 11 q14.2 83215855 83217502 + 85583721 85585556 + 85906173 85907820 + 12956414;8276393 283226 ABBA01017327;AMYH01003851;AP003097;NG_005139 1681179;1689075 RH27289;RH68982 FNTAL1 APPROVED pseudo 3783 INFERRED 1354156 FOLH2 folate hydrolase 2 11 q14 89071258 89071412 + 9691167;8417812 2344 AP003122;NG_003258;U93598;U93599 FOLHP;PSM pseudo 3789 1345842 FNDC4 fibronectin type III domain containing 4 2 2 2 p23.3 27560925 27564301 - 27568254 27571590 - 27714750 27718126 - 6480464 15815621;15489334;14702039;12975309;12477932;12384288;19913121;20628086;20383146;20705733;23505323;22267201;23022100;21988832 64838 Q9H6D8 ABBA01045208;AC074117;AK026015;AMYH01010197;AY358136;BC024175;BC032725;CH471053;DB452792;NG_028024;NM_022823 AAH32725;AAQ88503;AAY14849;ABM84948;ABW03632;BAB15321;EAX00569;EAX00570;NP_073734;Q9H6D8 Hs.27836;Hs.732184 1685059;1697424 RH102212;RH41958 FLJ22362;FRCP1 OTTHUMP00000123425;fibronectin type III domain-containing protein 4;fibronectin type III repeat-containing protein 1 protein-coding ENSG00000115226 20239 09965 611905 VALIDATED 1349897 FOLR1P1 folate receptor 1 (adult) pseudogene 1 11 11 11 q13.4 69171536 69172159 + 71547507 71548574 + 71869877 71870500 + 2538429;1581364;1330883 390221 ABBA01017541;AMYH01003791;AP000812;M86438;NG_005088 FOLR1P;KB-1 APPROVED pseudo 3792 INFERRED 2292121 FNIP2 folliculin interacting protein 2 4 4 4 q32.1 157031205 157168989 + 159909632 160047408 + 159690182 159827958 + 6480464 18403135;14702039;12477932;10819331;20379614;18663353;23201403;18029348;19914239 57600 D6RFH5;H0Y8F3;Q9P278 AB040883;ABBA01070210;ABBA01070211;AC093700;AC107219;AC109823;AK022968;AK057981;AL713802;AMYH01014646;BC007861;BC016638;BC030251;BC047069;BU753084;CH471056;DB482145;NM_020840 AAH07861;AAH16638;AAI66693;BAA95974;BAB14338;EAX04852;NP_065891;Q9P278 Hs.652441;Hs.731810 1682263;1684174;1684977;1704576;1710134;1777957;1788422;1855485;2158734;2166724;5022637 D11S2766;D4S2535E;RH25875;RH45922;SHGC-57495;SHGC-59336;SHGC-68047;SHGC-68119;SHGC-81554;SHGC-83096;fc02f11.x1 FNIPL;KIAA1450;MAPO1 FNIP1-like protein;O6-methylguanine-induced apoptosis 1 protein;OTTHUMP00000220933;OTTHUMP00000221326;folliculin-interacting protein 2 protein-coding ENSG00000052795 29280 612768 VALIDATED 1345317 FOLR2L folate receptor 2 (fetal) like 2351 3794 734060 FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010] 11 11 p11.2 49124763 49186798 - 49168187 49230222 - 737756;1580863;728645;6480464;7242426;7242559 12876198;9501243;20814827;16859665 19161160;22124883;22304713;22310383;9375657;8417812;19427504;19403271;19394322;19343734;19301871;19242540;19172696;12210356;12204797;12042430;11102961;11092759;10085079;9882712;9838072;9816319;9809977;9694964;9691167;9622670;9187245;8595888;8570628;7882349;7665226;7511053;19107881;19060911;19053759;19048631;18974153;18844933;18842806;18839017;18823966;18635682;18626508;18590621;18427977;18349274;18344976;18249021;18234225;18076021;18029348;17935484;17714508;17689503;17684227;17208363;17150306;17032155;16713605;16522921;16496414;16467855;16221666;15840561;15837926;15713827;15705868;15389976;15321811;15206943;15152093;15141017;15122597;14716746;14632302;14571414;14528023;13678295;12949938;12949815;12855225;12850144;12754519;12753319;12712410;12707400;12514270;12477932;12474535;19913121;20452657;20628086;20634891;20852008;20624932;18534872;18639471;19678840;19706844;19716160;19776634;19936946;20047525;20379614;20458436;22568207;20670952;21189143;23259322;22460809;21606347;21604260;17342744;21597034;22322627;21725290;22032578;20467438;21988832;23041906;20881960;23266799;23359458;22009216;23467813 2346 E9PI29;E9PKM3;E9PLV0;E9PMK6;Q16305 ABBA01060668;AC110742;AC118273;AF007544;AF107214;AF176574;AF254357;AF254358;AJ007318;AK295368;AK295470;AK300532;AK312366;AMYH01003568;AMYH01003569;AY101595;AY324625;BC025672;BC108719;CH471064;CS484648;CS487206;CS487327;DQ088979;EF488811;EF488812;JA362574;M99487;NG_029170;NM_001014986;NM_001193471;NM_001193472;NM_001193473;NM_004476;S76978 AAA60209;AAB33750;AAC83972;AAD51121;AAF31167;AAF71357;AAF71358;AAH25672;AAI08720;AAM34479;AAP86290;AAZ66619;ABM82093;ABM85275;ABO93402;ABO93403;BAG35284;BAH12048;BAH12079;BAH13299;CAM36419;CAM55906;CAM55926;CCA94569;EAW67858;EAW67861;NP_001014986;NP_001180400;NP_001180401;NP_001180402;NP_004467;Q04609 Hs.654487 1681488;1683441;1685475;1709468;1737915;2109317 D11S3521;FOLH1_8354;RH69652;RH71396;RH76660;SHGC-81785 FGCP;FOLH;GCP2;GCPII;NAALAD1;NAALAdase;PSM;PSMA;mGCP N-acetylated alpha-linked acidic dipeptidase 1;N-acetylated-alpha-linked acidic dipeptidase I;NAALADase I;OTTHUMP00000233840;OTTHUMP00000233841;OTTHUMP00000233843;OTTHUMP00000233844;cell growth-inhibiting gene 27 protein;cell growth-inhibiting protein 27;folate hydrolase;folate hydrolase 1;folylpoly-gamma-glutamate carboxypeptidase;glutamate carboxylase II;glutamate carboxypeptidase 2;glutamate carboxypeptidase II;membrane glutamate carboxypeptidase;prostate specific membrane antigen variant F;prostate-specific membrane antigen;pteroylpoly-gamma-glutamate carboxypeptidase APPROVED protein-coding ENSG00000086205 3788 02961 600934 REVIEWED 2881162 FOLR3P1 folate receptor 3 (gamma) pseudogene 1 11 11 q13.4 69185061 69190663 + 71883484 71889086 + 100288543 ABBA01017541;AMYH01003791;AP000812;NG_022959 1748867;2129160 D11S4433;SHGC-110531 pseudo 38074 INFERRED 2303851 FOLR4 folate receptor 4, delta (putative) 11 11 11 q21 91326626 91328681 + 93678451 93680506 + 94038803 94040858 + 6480464;6907045 11111049 390243 A6ND01;J3KNP7 ABBA01040033;AMYH01003965;AP002784;NM_001199206 A6ND01;NP_001186135 Hs.553758 Folbp3 FR-delta;OTTHUMP00000236827;OTTHUMP00000236947;folate receptor 4 (delta) homolog;probable folate receptor delta APPROVED protein-coding ENSG00000183560 32565 VALIDATED 1352316 FOCAD focadhesin 9 9 9 p21 20596817 20934232 + 20648309 20985954 + 20658309 20995954 + 6480464 8125298;19204726;16344560;14702039;12477932;11347906;20379614;20601674;21139048;21890473;21906983;22427331;21900206;22145905;21963094;23000965 54914 B3KNV9;Q5VW36 AB058700;ABBA01065179;ABBA01065180;ABBA01065181;ABBA01065182;ABBA01065183;ABBA01065184;ABBA01065185;AK000382;AK055116;AK056522;AK172818;AK225483;AL354879;AL392163;AL445624;AL512738;AL662879;AMYH01019273;AMYH01019274;AMYH01019275;AY139834;BC001246;CH471071;CQ834730;DB288580;NM_017794 AAH01246;AAN17740;BAA91129;BAB47426;BAB71203;BAD18787;BAG51471;CAH05580;EAW58627;EAW58628;EAW58629;NP_060264;Q5VW36 Hs.136247 1652216;1662736;1674123;1752165;1753283;1757691;2131095;2145695;2148657;2161648;2161805;5093056 A009E47;D9S1730;G32493;RH16145;SHGC-106080;SHGC-14450;SHGC-146263;SHGC-5879;SHGC-6726;SHGC-85660;STS-Z40712;WI-15647 FLJ20375;KIAA1797 OTTHUMP00000069845;focadhesin;hypothetical protein LOC54914;uncharacterized protein KIAA1797 APPROVED protein-coding ENSG00000188352 23377 11162 614606 VALIDATED 1318329 FOLR2 folate receptor 2 (fetal) The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q13.3-q13.5 71605488 71610637 + 71927819 71932994 + 1580863;1540379;6480464;6907045;7242557 8445646;22108709 2605182;19493349;19161160;19048631;17035141;16368877;16341674;15028279;12809644;12543860;12477932;10446858;9398177;8889548;8125298;8110752;8106441;7698003;7578066;2561247;2166548;1330883;19913121;20628086;20634891;20683905;19951991;20424473;22094710;22211358;22350599 2350 E7EU04;F5GXV3;F5GZ45;F5H3Z4;F5H4Z6;F5H5L8;J3KQP4;J3KR13;P14207;Q6GTE8 ABBA01017539;AK222539;AK222643;AMYH01003791;AP000593;BC027894;BC058036;BC115366;BM691283;BM849995;BY797003;CD014063;CD692073;CH471076;NM_000803;NM_001113534;NM_001113535;NM_001113536;U02714;X69516 AAA17370;AAH27894;AAH58036;AAI15367;ACE86481;ACE87062;ACE87162;ACE87743;BAD96259;BAD96363;CAA49267;EAW74853;NP_000794;NP_001107006;NP_001107007;NP_001107008;P14207 Hs.433159 2145152;2147232 D11S1142;D11S4329 BETA-HFR;FBP;FBP/PL-1;FR-BETA;FR-P3 FBP;OTTHUMP00000197257;OTTHUMP00000237147;OTTHUMP00000237148;OTTHUMP00000237150;OTTHUMP00000237151;OTTHUMP00000237152;OTTHUMP00000237153;OTTHUMP00000237154;folate receptor beta;folate receptor, beta;folate receptor, fetal/placental;folate-binding protein, fetal/placental;placental folate-binding protein APPROVED protein-coding ENSG00000165457 3793 00637 136425 REVIEWED 730816 FNTA farnesyltransferase, CAAX box, alpha Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010] 8 8 p11 43030599 43060088 + 42911442 42940931 + 1580863;6480464 15170324;17353931;8276393;8494894;8106351;8599089;11313965;19228685;17192483;15489334;15451670;14702039;12825937;12477932;12374986;12036349;11687658;11598000;10852915;10747914;10676968;8910345;8889548;8830800;8530343;8419339;8175923;7713879;2217184;1400319;19841875;20403997;22863883;21139048;21906983;22160308;18654987;18406652 2339 AAB26814;B3KVN2;E9PK84;E9PN85;E9PPM9;E9PQP6;H0YCW1;P49354 AB209689;ABBA01021181;ABBA01021182;ABBA01021183;AC110275;AC113191;AK091717;AK123002;AK292121;AL698961;AMYH01018692;BC017029;BC037295;BC084566;BI913631;BM686906;BT009854;BX648381;CH471080;L00634;L10413;NM_002027;NR_033698 AAA35853;AAA86285;AAB26814;AAH17029;AAH84566;AAP88856;BAD92926;BAF84810;BAG53844;EAW63188;EAW63189;EAW63190;EAW63191;EAW63192;NP_002018;P49354 Hs.370312 1681179;1681484;1689075;1718135;1769889;2107111;5015881;5022578;5022651;5037552;7187390 D11S2921;D1S1423;D8S1675;D8S2279;FNTA__6747;GDB:335751;RH122835;RH27289;RH46039;RH68982 FPTA;MGC99680;PGGT1A;PTAR2 FTase-alpha;GGTase-I-alpha;OTTHUMP00000229206;OTTHUMP00000229262;farnesyl-protein transferase alpha-subunit;protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha;protein prenyltransferase alpha subunit repeat containing 2;ras proteins prenyltransferase subunit alpha;type I protein geranyl-geranyltransferase alpha subunit APPROVED protein-coding ENSG00000168522 3782 00607 134635 REVIEWED 1346148 FOLR3 folate receptor 3 (gamma) This gene encodes a member of the folate receptor (FOLR) family, members of which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene includes two polymorphic variants; the shorter one has two base deletion in the CDS, resulting in a truncated polypeptide, compared to the longer one. Both protein products are constitutively secreted in hematopoietic tissues and are potential serum marker for certain hematopoietic malignancies. The longer protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, respectively. [provided by RefSeq, Jul 2008] 11 11 11 q13 69148708 69152871 + 71524419 71528582 + 71846771 71850934 + 1580863;6907045;6480464 9547271;8110752;19161160;19048631;14759258;12477932;7727426;22315970;20634891;20683905 2352 E9PGT2;F5H2G8;J3KQ90;J3KQY0;P41439;Q05C14 ABBA01017541;ABBA01017542;AF100161;AMYH01003791;AP000812;BC030285;BC126398;CH471076;NG_032935;NM_000804;U08470;U08471;Z32564;Z32633 AAA18381;AAA18382;AAC98303;AAH30285;AAI41506;AAI48786;CAA83553;CAA83566;EAW74843;EAW74844;EAW74845;NP_000795;P41439 Hs.352 1651605;2129160;2217336 D11S4433;FOLR3_2766;RH36121 FR-G;FR-gamma;gamma-hFR OTTHUMP00000237135;folate receptor gamma APPROVED protein-coding ENSG00000110203 3795 03918 602469 REVIEWED 6769205 FOSL1P1 FOS-like antigen 1 pseudogene 1 4 129076544 129077356 + 100419062 ABBA01044812;AC114735;AMYH01014511;NG_025252 1769895;2127671;2143841;2153590 G01821;SHGC-51061;STS-H96643;STS-X16707 pseudo 44055 INFERRED 736901 FNTB farnesyltransferase, CAAX box, beta 14 14 q23.3 64523260 64599123 + 65453507 65529370 + 1580863;6480464 15170324;17353931;8276393;8494894;16344560;15592455;15489334;14702039;12825937;12477932;12374986;12036349;11751396;11687658;11598000;10852915;10747914;10676968;9657673;8910345;8830800;8599089;8175923;8125298;2217184;15451670;19228685;19841875;19862010;22992747;22863883;21906983;22882915;21890473;23000965;23222517 2342 AAB26815;G3V4C9;P49356 ABBA01018375;ABBA01018376;ABBA01018377;ABBA01018378;AK093298;AK225917;AK295972;AK315714;AL139022;AMYH01005802;AMYH01005803;AU122768;BC013574;BC020232;BM990350;BX248269;CH471061;L00635;L10414;NM_002028 AAA35854;AAA86286;AAB26815;AAH20232;ABM83054;ABM86247;BAG38073;BAG52684;BAG58748;CAD62597;EAW80897;NP_002019;P49356 Hs.325531 1667283;2108103;2126618;2154883;2176004 A003A45;FNTB_8353;RH48540;WI-18777;WI-9215 FPTB;MGC31935 CAAX farnesyltransferase subunit beta;FTase-beta;OTTHUMP00000183467;farnesyltransferase beta subunit;protein farnesyltransferase subunit beta;ras proteins prenyltransferase subunit beta protein-coding ENSG00000125954;ENSG00000257365 3785 00608 134636 VALIDATED 1346305 FOLR1 folate receptor 1 (adult) The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009] 11 11 q13.3-q14.1 71578250 71585014 + 71900602 71907367 + 1580863;6480464;6907045;7240710;7242557 22108709 9063895;8125298;8061055;7632694;7578066;3476960;3194438;2538429;2527252;2166548;1717147;1581364;1330883;1840502;10633085;9545095;2768245;19493349;19336370;19161160;19159907;19093297;19074442;19048631;18988749;18588513;18181001;17912458;17554378;17487842;17473184;17035141;16602701;16475900;16453285;16128986;15754024;15489334;15340044;14972645;14517339;12839949;12612090;12516786;12477932;19324355;11925593;10025672;22265591;20628086;20634891;19913121;20683905;20817090;19446551;19454358;19493312;19585555;19617914;19732866;19952865;20036773;20037791;20379614;20424473;8889548;20857335;22304562;22939629;21215723;21215165;22984810;21215055;20360068;21572402;21963094;21987572;21647742;22089756;22586289;21938430;22729036;23144806;21988832;23243496 2348 P15328;Q9NP04 ABBA01017539;AF000381;AK223527;AMYH01003791;AP000812;BC002947;BT007158;CA450368;CH471076;CR542019;J05013;M25317;M28099;M35069;NG_015863;NM_000802;NM_016724;NM_016725;NM_016729;S73474;S73490;U20391;U78793;U78794;X62753 AAA35822;AAA35823;AAA35824;AAA74896;AAB05827;AAB31700;AAB31702;AAB39751;AAB39752;AAB81938;AAH02947;AAP35822;ABM83670;ABM86943;BAD97247;CAA44610;CAG46816;EAW74848;EAW74849;EAW74850;EAW74851;EAW74852;NP_000793;NP_057936;NP_057937;NP_057941;P15328 Hs.73769 1682481;2125036;2131718;2217334;5091313 FOLR1;FOLR1_2994;RH78123;RH80816;SHGC-6023 FBP;FOLR;FR-alpha;MOv18 FR-alpha;KB cells FBP;OTTHUMP00000237140;OTTHUMP00000237141;OTTHUMP00000237142;OTTHUMP00000237143;adult folate-binding protein;folate binding protein;folate receptor alpha;folate receptor, adult;ovarian tumor-associated antigen MOv18 APPROVED protein-coding ENSG00000110195 3791 00638 136430;613068 REVIEWED 1606173 FOPNL FGFR1OP N-terminal like 16 16 16 p13.11 15640063 15662935 - 15867078 15889948 - 15959577 15982447 - 6480464 15489334;14702039;12477932;19843651;17207965;20551181;15616553;18029348;19322201;21906983 123811 B3KPU9;I3L0K3;I3L0U4;I3L269;I3L2N4;I3L3N6;I3L4V2;I3NI25;Q96NB1 ABBA01048908;AC130651;AK055715;AK056798;AL832498;AMYH01007182;AY507846;BC022321;CH471226;NM_144600 AAH22321;AAR98812;ADQ32274;BAB70994;BAG51811;EAW53934;EAW53935;NP_653201;Q96NB1 Hs.514179 1683307;1685494;1686810;5037552;5109281 D1S1425;D8S2279;RH65019;RH65060;RH93586 C16orf63;DKFZp686N1651;FLJ31153;FOR20;PHSECRG2 FGFR1OP N-terminal-like protein;FOP-related protein of 20 kDa;OTTHUMP00000160374;lisH domain-containing protein C16orf63;lisH domain-containing protein FOPNL;pluripotent embryonic stem cell-related protein APPROVED protein-coding ENSG00000133393 26435 08096 PROVISIONAL 1317837 FOSB FBJ murine osteosarcoma viral oncogene homolog B The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.32 50663093 50670276 + 45971253 45978437 + 1580863;6480464 10942775;8144043;1900040;8706134;19453261;19133651;18977241;18802113;18491952;18490653;18207134;17601350;17495958;16344560;15926923;15489334;14741347;12618758;12602926;12477932;12371906;10220381;8985116;8125298;1903195;1702972;1301997;20813842;19381435;19795327;20571966;20826776;15025563;21937452;20398657;21616539;21543584;23614275 2354 E7EPR6;K7EJ89;K7EKA0;K7EKC1;K7EMJ6;K7EPR3;K7ERZ8;P53539;Q49AD7 ABBA01040931;AC138128;AK225070;AK292720;AMYH01009851;AY898963;BC036724;BC040197;BC063042;BC127825;BX538117;CH471126;CR542101;D16366;DA589470;DB275824;EU178109;EU178110;EU178111;EU178112;EU178113;EU178114;EU178115;EU178116;HI574258;L49169;NG_015839;NG_029675;NM_001114171;NM_006732 AAB53946;AAH36724;AAH40197;AAI27826;AAW65374;ABW34730;ABW34731;ABW34732;ABW34733;ABW34734;ABW34735;ABW34736;ABW34737;ACE86760;ACE87447;BAF85409;CAG46898;CBX47618;EAW57351;EAW57352;NP_001107643;NP_006723;P53539 Hs.590958 2127222;2131266;2161313 D19S1096;RH46539;WI-20020 AP-1;DKFZp686C0818;G0S3;GOS3;GOSB;MGC42291 G0/G1 switch regulatory protein 3;activator protein 1;oncogene FOS-B;protein fosB APPROVED protein-coding ENSG00000125740 3797 01270 164772 REVIEWED 732196 FOSL1 FOS-like antigen 1 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2008] 11 11 q13 65416268 65424573 - 65659692 65667997 - 737712;1580863;2293758;2293756;2293757;2293777;1642465;2293787;6480464;6907045 10655067;9405228;17254320;15514944;15623567;15306117;11488404 22411068;8230424;19453261;19160107;18435914;18288638;18172271;18098284;18096084;17882273;17872495;17616677;17572495;17371847;17192200;16490785;16189514;15831677;15615716;15608675;15489334;13679379;12692267;12477932;12424143;12371906;12209953;11912197;11708771;9858769;9458721;9267807;9160889;9016559;8938448;8276409;8125298;2107490;15806162;10918580;19913121;20211142;20511396;20663135;21874050;22514348;11431474;19060904;19384981;19874574;19923172;20198886;20353950;22286759;15025563;21088499;21526963;21640141;21558934;21460858;21708480;21969367;21937452;22198213;21822309;21988832;21150319;23275563;23483055;22461694;21371080;22028113;22235402;21840727;23128233;22911824 8061 B4DDQ7;B4DR11;E9PKL5;E9PPX2;E9PQT6;P15407 ABBA01024097;AJ297411;AK222902;AK293297;AK299050;AK313718;AMYH01003727;AP006287;BC016648;BQ937004;CH471076;CR542257;CR542278;NM_005438;X16707 AAH16648;ABM81980;ABM83629;ABM84258;ABM85159;ABM87647;ABW03920;BAD96622;BAG36461;BAG56818;BAG61123;CAA34679;CAC50237;CAG47053;CAG47074;EAW74469;NP_005429;P15407 Hs.283565 1684580;1699372;1771172;2110411;2127466;2134990;2143841;2153590 D11S4907;FOSL1;FOSL1_8776;G33132;RH103273;RH80069;STS-H96643;STS-X16707 FRA;FRA1;fra-1 FOS-like antigen-1;OTTHUMP00000234038;OTTHUMP00000234039;OTTHUMP00000234040;fos-related antigen 1 1643405 BMD9_H APPROVED protein-coding ENSG00000175592 13718 00643 136515 REVIEWED 1605769 FOXB2 forkhead box B2 9 9 9 q21.2 50211724 50213022 + 78824391 78825689 + 79634571 79635869 + 6480464 15164053 442425 Q5VYV0 ABBA01033917;ABBA01033918;AL353637;AMYH01021427;AMYH01021428;NM_001013735 NP_001013757;Q5VYV0 Hs.553843 bA159H20.4 OTTHUMP00000021510;forkhead box protein B2 protein-coding ENSG00000204612 23315 18473 VALIDATED 1605726 FOXA2 forkhead box A2 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 20 20 p11 22509823 22514102 - 22561642 22566101 - 1627574;2313246;2312358;2313245;2313242;2313243;6480464;6484113;6907045 12865419;10868949;19433262;11043867;18797817;11445544 12911579;18753309;18682709;18666263;18660816;18593902;18381283;17715393;17471492;17283222;17101796;16892178;16675598;16001449;15737987;15489334;15205324;15123725;14739090;14500912;12642491;12509444;12477932;12163409;12124776;11875061;11780052;11069927;10899756;10868948;10748198;10672453;10623575;9119385;19913121;20628086;18798232;19302415;19589781;19769745;19934400;20048076;20049900;20074681;20152958;20160041;20357092;20382118;9931457;16459311;20967225;21037926;20820189;21466784;22432472;21292830;22318606;22581228;22693459;23236435;22341411;22067325;23349771;22196886;22268124;22325233;22877565 3170 B0ZTD4;Q9Y261 AA469087;AB028021;ABBA01016168;ABBA01016169;ABBA01016170;AF147787;AF176110;AI268650;AI302734;AK301611;AL121722;AMYH01011774;BC006545;BC011780;BC019288;BM273279;BQ643619;CH471133;CS104988;CS104990;EU402966;NM_021784;NM_153675 AAD41081;AAD51978;AAH06545;AAH11780;AAH19288;ABM83809;ABM87131;ACA06111;BAA78106;BAG63097;CAJ01277;CAJ01278;EAX10174;EAX10175;NP_068556;NP_710141;Q9Y261 Hs.155651 1668616;1721431;2106799 Foxa2;G59567;RH48123 HNF3B;MGC19807;TCF3B HNF-3-beta;HNF-3B;OTTHUMP00000030409;OTTHUMP00000030410;TCF-3B;forkhead box protein A2;hepatic nuclear factor-3-beta;hepatocyte nuclear factor 3, beta;hepatocyte nuclear factor 3-beta;transcription factor 3B 1643383;1643385 BW311_H;BW312_H APPROVED protein-coding ENSG00000125798 5022 02618 600288 REVIEWED 733116 FOSL2 FOS-like antigen 2 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2008] 2 2 p23.3 28469283 28491020 + 28615779 28637516 + 1580863;2293779;2293758;6480464 15121240;9405228 8954781;19321746;18641127;18071306;17393299;17081983;15489334;15302935;14702039;14499865;12477932;12052862;11708771;11570575;10816578;10713367;10419887;2107490;9160889;22523431;20837772;20675274;18029348;19620306;19874574;19933934;20039427;20398657;21937452;22326952;22939629;22493372;21693764;15558021;19471022;21980299;23000965;23128233;23482931 2355 C9JCN8;P15408;Q9H5M2 ABBA01045230;AC104695;AK026959;AK055579;AK302622;AK315415;AMYH01010204;BC008899;BC022791;BC085197;BM023443;BQ574214;BX647822;CH471053;CR542262;NM_005253;X16706 AAH22791;AAY14908;AAY14909;ABM84354;ABM87742;BAB15603;BAG37805;BAG51539;BAG63866;CAA34678;CAG47058;EAX00537;EAX00538;EAX00539;EAX00540;NP_005244;P15408 Hs.220971;Hs.596972 1337114;2108105;2113496;2124694;2150400;2191479 BZ932217;D2S366;FOSL2_8355;MARC_23763-23764:1027442861:1;RH17490;STS-AA019641 FLJ23306;FRA2 FRA-2;OTTHUMP00000123509;OTTHUMP00000200848;fos-related antigen 2 APPROVED protein-coding 3798 03343 601575 REVIEWED 735729 FOS FBJ murine osteosarcoma viral oncogene homolog The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008] 14 14 q24.3 74815284 74818666 + 75745481 75748937 + 1580863;704404;2293757;2293779;2293780;2293777;6480464;6484113;6907045;7242178;7242184;7242185;7242198;7242276;7242278 15514944;15121240;14674993;15623567;22634839;19095962;16696897;16049073;15632024;11880336 22076613;9732876;10918580;9888853;17217916;9443941;18029348;19513521;19453261;19329434;19299513;19269029;19258923;19215067;19151755;19135542;19028685;19022561;19015316;19009649;18986987;18957410;18923650;18854825;18838675;18826606;18802113;18725194;18676680;18653705;18644870;18641127;18621151;18599327;18597608;18500346;18467434;18425349;18405916;18368600;18316037;18309110;18305042;18283312;18252863;18206243;18158562;18032824;17926144;17915561;17888430;17703412;17681951;17639289;17636030;17606925;17549045;17495958;17235455;17209045;17203973;17182779;17160021;17018293;16828227;16637060;16552729;16236267;16219292;16123044;16055710;16038047;15926923;15921770;15767669;15708845;15654976;15588513;15548518;15530430;15507668;15489334;15262961;15188457;14966901;14741347;14727154;14702039;14629301;14522952;14517309;14511403;12972619;12949493;12788789;12705898;12692226;12687275;12600988;12592382;12547826;12508121;12477932;12446585;12445807;12193410;12183893;12147741;12127989;12082260;12052862;11983170;11909859;11891317;11846562;11641401;11397816;11397794;11278640;11260070;11134330;11053448;10799874;10777532;10764760;10523647;10497212;10488148;9918847;9792677;9685505;9681824;9671405;9642216;9510247;9468519;9346889;9334186;9207128;9129988;9121455;9057648;8971979;8904195;8763994;8737385;8710853;8628277;8570175;8557686;8475068;8397339;8248197;8108109;8065335;7994752;7962462;7816602;7816143;7713192;7685215;7665092;7540136;6574479;3817017;3555978;3027573;2516827;2511004;2414012;1903538;1828107;1658710;1631061;1589769;1545828;1406655;10581001;10027715;16001969;7642615;8621941;7957556;15258149;16690925;16243842;12419805;10388555;8480425;8151786;1827203;11274169;10847592;10330159;9488446;9872330;9160889;8440710;8380166;11782371;16023595;15950906;9130707;8816798;8816797;15610731;15175153;22105363;19913121;20531301;20628086;20628624;20682178;19105933;20463008;15276183;20203690;20209053;17709345;20726226;22318606;8524278;10567391;11431474;15844599;15867431;16452503;16511568;17080554;19170196;19199093;19384981;19495976;19557575;19581295;19625176;19692168;19714312;19795350;19859790;19874574;19921846;19937979;19959471;20089855;20468064;20493519;20503287;7623830;16714286;17226766;20936779;20976196;21106746;18511550;20619839;17317669;18422165;21303932;15835820;22528769;23121125;21385848;20410304;21496113;21496208;21937452;19597476;21920361;21163924;21340718;20398657;9545246;21655091;21822357;21757709;22474330;20336670;21693764;21900206;21975339;20459032;22108803;21675959;21829441;19471022;21732357;21978922;22308434;11090181;22772468;22537850;23209736;23135283;19064921;20195357;21988832;22699663;23128233;23625009;2366175;15319445;18042260;18097055;19013323;20012528;20042607;20869948;21034562;21423810;21607373;22077140;23614275;22546605;22534624 2353 A8K4E2;B4DQ65;G3V289;G3V2V7;G3V5J9;G3V5N7;G3V5N9;H0YJM3;P01100;Q6FG41 AB022275;AB022276;ABBA01030704;AF111167;AK097379;AK290907;AK291326;AK298659;AMYH01005858;AY212879;BC004490;BX647104;CH471061;CR541785;CR542267;HI574162;K00650;NG_029673;NM_005252;S65138;V01512 AAA52471;AAB20306;AAC98315;AAH04490;AAO21129;ABM84370;ABM87749;BAA87920;BAA87921;BAF83596;BAF84015;BAG53458;BAG60827;CAA24756;CAG46584;CAG47063;CBX47570;EAW81227;EAW81228;EAW81229;NP_005243;P01100 Hs.25647 1728997;1742673;1742675;1768928;1791806;1792052;1792210;1792472;1794990;1795016;1851699;2113548;2174480;5022030;5492275 BP240034A10G4;BP250015A10G9;FOS_V40;Fos;G06585;GDB:199085;GDB:201707;PMC126057P3;PMC135937P1;PMC139817P1;PMC151710P2;PMC86910P1;PMC87308P1;STS-V01512;WI-19801 AP-1;C-FOS;p55 FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS);G0/G1 switch regulatory protein 7;OTTHUMP00000246818;OTTHUMP00000246821;OTTHUMP00000246822;OTTHUMP00000246823;activator protein 1;cellular oncogene c-fos;cellular oncogene fos;proto-oncogene c-Fos;v-fos FBJ murine osteosarcoma viral oncogene homolog APPROVED protein-coding ENSG00000170345 3796 01275 164810 REVIEWED 1343882 FOXD1 forkhead box D1 This intronless gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in tumor formation. [provided by RefSeq, Jul 2008] 5 5 5 q12-q13 68637378 68639649 - 72777839 72780108 - 72742083 72744352 - 1580863;6480464 7957066;8702877;15716278;8825632 2297 J3KT45;Q16676 ABBA01061916;ABBA01061917;AC099522;AMYH01015405;AMYH01015406;CH471084;NM_004472;U13222;U59831;U59832 AAA92039;AAC50660;AAC50661;AAI60026;EAW95721;NP_004463;Q16676 Hs.519385 1678755;1797538;5493713 FOXD1_1155;RH98761;UniSTS:491151 FKHL8;FREAC4 FREAC-4;Forkhead, drosophila, homolog-like 8;forkhead box protein D1;forkhead-like 8;forkhead-related activator 4;forkhead-related protein FKHL8;forkhead-related transcription factor 4 APPROVED protein-coding ENSG00000251493 3802 03055 601091 REVIEWED 1312200 FOXD2 forkhead box D2 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 1 1 1 p34-p32 46187996 46192673 + 47674276 47678950 + 47901689 47906363 + 1580863;6480464 8889548;9403061;12621056;22306510;22041458;23251661 2306 O60548 ABBA01050816;ABBA01050817;AF042832;AL559120;AL607122;AMYH01000595;BM665076;CH471059;NM_004474 AAC15421;AAI69309;AAI69310;EAX06866;NP_004465;O60548 Hs.166188 1692570;1794482;1795856;5492769 AL033932;FOXD2_646;PMC316354P2;UniSTS:482414 FKHL17;FREAC-9;FREAC9 OTTHUMP00000009656;forkhead box protein D2;forkhead, drosophila, homolog-like 17;forkhead-like 17;forkhead-related activator 9;forkhead-related protein FKHL17;forkhead-related transcription factor 9 APPROVED protein-coding ENSG00000186564 3803 03735 602211 REVIEWED 1605727 FOXA1 forkhead box A1 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008] 14 14 q12-q13 37128940 37134240 - 38058757 38064325 - 6480464;6484113 21401706;8652662;19470727;19445897;19261198;19183483;19129543;18688264;18538561;18358809;18178153;18039470;17671124;17616709;17373880;16381901;16331276;16239259;16087863;16009131;15737987;15489336;15489334;12750453;12477932;12441652;12234996;11864602;11355750;11076863;10899756;9119385;8034310;1672118;1612587;12509444;21572438;22383183;22590586;21233399;20646630;20132413;20610384;20628005;19919681;20211142;20503388;19127412;19371798;19486887;19549328;19846536;19866472;19897491;19917725;20018680;20043065;20048076;20160041;20501593;9931457;21130740;21151129;20736324;22879989;21900400;21701558;21878914;21915096;21934649;22115363;21882221;22596188;19322201;22577344;21693764;22067325;21988832;23001124;21984487;22138582;16344560;8889548;21503684;22238690;22313737;19471022;23269278;22391567;23183268;23443045;22986903;22476979;23355396 3169 B7ZAP5;G3V4B9;P55317 ABBA01061531;AF176112;AF303743;AK313785;AL121790;AMYH01005679;BC033890;BM970983;BU860564;CH471078;DA705947;NG_033028;NM_004496;U39840 AAB06493;AAD51979;AAG40847;AAH33890;BAG36523;CAL37741;CAL38117;CAL38188;CAL38247;EAW65844;NP_004487;P55317 Hs.163484 1652885;2113872;2118731;2163606 HNF3A;RH70624;RH79152;SHGC-35681 HNF3A;MGC33105;TCF3A HNF-3-alpha;HNF-3A;OTTHUMP00000178879;TCF-3A;forkhead box protein A1;hepatocyte nuclear factor 3, alpha;hepatocyte nuclear factor 3-alpha;transcription factor 3A APPROVED protein-coding ENSG00000129514 5021 03801 602294 REVIEWED 1347778 FOXD3 forkhead box D3 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008] 1 1 1 p31.3 62078382 62080449 + 63561318 63562754 + 63788730 63790797 + 1580863;6480464;7240710 11891324;19034670;16710414;16098053;11179011;8499623;20332228;21478267;22887036;23543055;23058321;22815627 27022 Q9UJU5 ABBA01074575;AF086235;AF197560;AL049636;AMYH01000672;CH471059;L12142;NG_012220;NM_012183 AAF05844;AAI72266;AAI72572;AAK13574;EAX06575;NP_036315;Q9UJU5 Hs.546573 1334633;1341142;5492635 D1S2742;D1S515;UniSTS:481861 AIS1;Genesis;HFH2;VAMAS2 HNF3/FH transcription factor genesis;OTTHUMP00000010713;forkhead box protein D3 APPROVED protein-coding ENSG00000187140 3804 07018 607836;611539 REVIEWED 1605725 FOXA3 forkhead box A3 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008] 19 19 q13.2-q13.4 51059358 51068895 + 46367518 46377055 + 2315085;6480464;6484113;6907045 11018767 7739897;15839736;15737987;15489334;12477932;11748221;10920385;10899756;9632808;9119385;8499623;8332212;8125298;19919681;12695546;18239190;19934400;9369482;20211142;22659429 3171 M0QZW5;P55318 ABBA01040954;AC008623;AF176113;AF176114;AK223473;AMYH01009855;AMYH01009856;BC016024;BT006720;CH471126;EU275778;L12141;NM_004497 AAA58477;AAD51980;AAH16024;AAP35366;ABX44664;BAD97193;EAW57394;EAW57395;NP_004488;P55318 Hs.36137 1775598;1795854;2172740 FOXA3_642;RH17892;SGC34695 FKHH3;HNF3G;MGC10179;TCF3G HNF-3-gamma;HNF-3G;TCF-3G;fork head-related protein FKH H3;forkhead box protein A3;hepatocyte nuclear factor 3, gamma;hepatocyte nuclear factor 3-gamma;transcription factor 3G APPROVED protein-coding ENSG00000170608 5023 03802 602295 REVIEWED 1625815 FOXD4L2 forkhead box D4-like 2 9 9 p12 42706728 42710657 + 42717234 42720342 + 15233989;12421752;12234674;9847074 100036519 Q6VB85;Q8WXT5 AC129778;NM_001099279 NP_001092749 Hs.712520 5124131 RH70565 OTTHUMP00000069678;forkhead box D4-like 2 protein-coding ENSG00000204828 24813 611085 VALIDATED 1313112 FOXB1 forkhead box B1 15 15 15 q22 37184381 37186102 + 58083713 58085434 + 60296421 60298142 + 1580863;6480464 16344560;12477932 27023 Q99853 ABBA01038954;AC009654;AF055080;AF071554;AK290944;AK314075;AMYH01006689;BC113710;CH471082;DA685771;NM_012182;U87393 AAB47564;AAC09344;AAC62493;AAI13711;BAF83633;EAW77581;NP_036314;Q99853 Hs.734475 FKH5;HFKH-5 forkhead box protein B1;transcription factor FKH-5 protein-coding ENSG00000171956 3799 07017 VALIDATED 1602044 FOXD4L4 forkhead box D4-like 4 9 9 q21.11 69666443 69669551 - 70426623 70429731 - 12421752;12234674;18029348 349334 Q6VB85;Q8WTR0;Q8WXT5 AF343005;AF343008;BX284632;NM_199244 AAI72340;AAL73342;AAL73345;NP_954714;Q8WXT5 Hs.534644 5124131 RH70565 FOXD4b;bA460E7.2 FOXD4-like 4;OTTHUMP00000015376;forkhead box protein D4-like 4;forkhead box protein D4b;myeloid factor-gamma;winged helix factor-1;winged helix transcription factor beta protein-coding ENSG00000184659 23762 17013 VALIDATED 2293114 FOXD4L5 forkhead box D4-like 5 9 9 q21.11 69465208 69469131 - 70175707 70178815 - 15164053;12234674;18029348 653427 Q5VV16;Q8WTR0 AL512605;AMYH01021338;NM_001126334 NP_001119806;Q5VV16 Hs.652377;Hs.714683 5124131 RH70565 bA15J10.2 FOXD4-like 5;OTTHUMP00000015368;forkhead box protein D4-like 5 protein-coding ENSG00000204779 18522 VALIDATED 6779244 FOXD2-AS1 FOXD2 antisense RNA 1 (head to head) 1 p33 47897805 47900313 - 12477932 84793 ABBA01050817;AL607122;AMYH01000595;BC006113;BC022099;BC041637;NR_026878 Hs.127762 1692570 AL033932 APPROVED miscrna ENSG00000237424 44256 VALIDATED 1353830 FOXC1 forkhead box C1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008] 6 6 p25 1555680 1559131 + 1610681 1614132 + 1582564;1580863;6480464;7240710 16952980 11782474;7957066;15277473;8499623;15684392;12408963;12614756;16449236;18708620;18676680;18676636;18616618;18564921;18498376;18484311;17993506;17653043;17558846;17486624;17197537;17157569;17000708;16936096;16638984;16492674;15477465;15299087;14702039;14578375;14574404;14506133;12592227;12454026;12234674;11821690;11748221;11740218;11320352;11170889;11007653;10713890;10474162;9792859;9620769;9382099;9326342;8940278;8825632;19322201;21465172;21353197;22120723;19913121;20628086;20056007;20338046;11179011;11237714;11562355;12477932;19170196;19279310;19513095;19625176;19626132;19668217;19692168;19793056;20406990;20453000;20881294;21031026;22249250;22991501;21837767;18029348;21424368;21139048;21278591;21693764;22645147;21400511;19471022;22020760;22493429;22569110;23242609;23264086;22911555;23541832;23667531;22190034;22736943;22903608 2296 A3KPE3;Q12948 ABBA01048644;AF048693;AF078096;AK021858;AL034344;AMYH01016019;AY228703;AY228704;AY228705;BC134421;CH471087;GQ282997;L12143;NG_009368;NM_001453;U13221 AAA92038;AAC18081;AAC72915;AAI34422;AAI69306;AAI69307;AAK13575;AAP15181;ACS83750;EAW55074;NP_001444;Q12948 Hs.348883 1673201;1690236;1697648;2178124;5492379 RH102339;RH80486;STS-N22552;STS-N25875;UniSTS:480885 ARA;FKHL7;FREAC-3;FREAC3;IGDA;IHG1;IRID1;RIEG3 OTTHUMP00000017802;forkhead box protein C1;forkhead, drosophila, homolog-like 7;forkhead-related activator 3;forkhead-related protein FKHL7;forkhead-related transcription factor 3;forkhead/winged helix-like transcription factor 7;myeloid factor-delta APPROVED protein-coding ENSG00000054598 3800 03054 601090;601631;602482 REVIEWED 1347315 FOXC2 forkhead box C2 (MFH-1, mesenchyme forkhead 1) This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008] 16 16 q24.1 85158443 85159948 + 86600857 86602539 + 1582564;1601218;1601216;1601219;1601217;1601220;1580863;6480464;7240710 16952980;15601967;11371511;12453913;15523639;12540636 12477932;12383817;11694548;11551504;11499682;11078474;11076863;10669593;10417285;16456100;16081467;9169153;12114478;8674414;19453261;19394045;19185813;19056482;19013876;18986489;18974842;18973153;18660489;18564920;18197197;17537911;17372167;17342473;17081983;16786163;15926113;15919786;15597109;15489334;15198934;14530861;12716768;12485195;22178381;22410781;20634891;20535019;20552815;11562355;19339011;19548265;19760751;19876004;19935708;20060810;20201926;20218083;20450314;20540670;19336002;20460685;20301630;20803080;21270254;23378344;21464574;21640215;22216698;22493429;21693764;22374725;21918810;19471022;22349027;21457232 2303 Q99958 ABBA01034303;ABBA01034304;AC009108;AMYH01007897;BC113437;BC113439;CH471114;GQ282998;NG_012025;NM_005251;Y08223 AAI11590;AAI13438;AAI13440;ACS83751;CAA69400;EAW95415;EAW95416;NP_005242;Q99958 Hs.436448 5492381;5492881 UniSTS:480884;UniSTS:483146 FKHL14;LD;MFH-1;MFH1 MFH-1,mesenchyme forkhead 1;OTTHUMP00000175007;forkhead box protein C2;forkhead, Drosophila, homolog-like 14;forkhead-related protein FKHL14;mesenchyme fork head protein 1;transcription factor FKH-14 APPROVED protein-coding ENSG00000176692 3801 03869 153400;602402 REVIEWED 1316815 FOXE3 forkhead box E3 This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009] 1 1 p32 47654331 47656311 + 47881744 47883724 + 1598956;1598957;1580863;6480464;7240710 16826526;11159941 8825632;10652278;16710414;19708017;20140963;20361012;20664696;20806047;20630806;21150893;22204637;22527307 2301 Q13461 ABBA01050817;ABBA01050818;AF275722;AL607122;AMYH01000594;AMYH01000595;NG_016192;NM_012186;U42990 AAB48856;AAF82793;AAI72358;NP_036318;Q13461 Hs.112968 1794482;5492797;5493791 PMC316354P2;UniSTS:482658;UniSTS:494838 ASMD;FKHL12;FREAC8 FREAC-8;OTTHUMP00000009657;forkhead box protein E3;forkhead, drosophila, homolog-like 12;forkhead-related protein FKHL12;forkhead-related transcription factor 8 APPROVED protein-coding ENSG00000186790 3808 03058 107250;601094;610256 REVIEWED 735499 FOXE1 forkhead box E1 (thyroid transcription factor 2) This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. Mutations in this gene are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I. [provided by RefSeq, Jul 2008] 9 9 q22 99655358 99658818 + 100615537 100618997 + 704404;1580863;6480464;7240710 21462296;9169137;9697705;12165566;19198613;19192046;18978678;17717707;17318017;16882747;16584930;16481406;16327884;15367491;15320969;15140221;14654228;14611701;11762722;11580993;10748198;10403172;9214635;9052737;21177256;20572854;20583170;20634891;20672350;20453517;19845668;19730683;19779022;19930442;20094846;20157192;20200978;20350937;20544801;21367965;15494458;21311165;21730105;22177572;22521644;21896990;21981779;22493691;22882326;23251661;23408906;22736773;22753311 2304 O00358 ABBA01042927;AL499604;AMYH01021556;AMYH01021557;CH471105;NG_011979;NM_004473;U89995;X94553;Y13386 AAC51294;AAI52745;CAA64246;CAA73816;EAW58856;NP_004464;O00358 Hs.159234 1795858;5492443;5493783 FOXE1_316;UniSTS:481083;UniSTS:494815 FKHL15;FOXE2;HFKH4;HFKL5;TITF2;TTF-2;TTF2 HNF-3/fork head-like protein 5;OTTHUMP00000021756;forkhead box E2;forkhead box protein E1;forkhead box protein E2;forkhead, drosophila, homolog-like 15;forkhead-related protein FKHL15;thyroid transcription factor 2 APPROVED protein-coding ENSG00000178919 3806 04014;06188 241850;602617 REVIEWED 1351590 FOXD4L1 forkhead box D4-like 1 This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [provided by RefSeq, Jul 2008] 2 2 q13 113973131 113975197 + 114256661 114258727 + 1580863;6480464 15815621;15233989;14702039;12477932;12421752;7957066;18029348 200350 B3KVK3;Q9NU39 AF452723;AK122950;AK125398;AL078621;AMYH01010967;AY344639;BC136428;NM_012184 AAI36429;AAI48649;AAI53202;AAN64908;AAQ76877;BAG53815;BAG54193;NP_036316;Q9NU39 Hs.591554 5124131 RH70565 FOXD5;bA395L14.1 FOXD4-like 1;OTTHUMP00000162048;forkhead box D4 like 1;forkhead box protein D4-like 1 APPROVED protein-coding ENSG00000184492 18521 17010 611084 REVIEWED 1352114 FOXF2 forkhead box F2 FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008] 6 6 6 p25.3 2618774 2624536 + 1335068 1340831 + 1390069 1395832 + 1580863;6480464 17474147;7957066;8626802;9722567;19276632;9799607;7959731;20634891;19220249;19562724;23383207 2295 Q12947 ABBA01048651;AF084939;AL034346;AMYH01016018;CH471087;NM_001452;U13220 AAC32226;AAD19875;AAI72251;EAW55072;NP_001443;Q12947 Hs.484423 1850892 STS-N33380 FKHL6;FREAC-2;FREAC2 FREAC-2;OTTHUMP00000017863;forkhead box protein F2;forkhead-like 6;forkhead-related activator 2;forkhead-related protein FKHL6;forkhead-related transcription factor 2 APPROVED protein-coding ENSG00000137273 3810 09131 603250 REVIEWED 1606108 FOXD4L3 forkhead box D4-like 3 9 9 q21.11 70107603 70109820 + 70917783 70920000 + 6480464 15233989;12477932;12421752;18029348 286380 Q6VB84 AL353608;AMYH01021376;AY344641;AY344642;NM_199135 AAI72338;AAI72341;AAQ76879;AAQ76880;NP_954586;Q6VB84;Q6VB85 Hs.449471 FOXD4L2;FOXD6;MGC119257 FOXD4-like 2;FOXD4-like 3;Forkhead box protein D4-like 3;OTTHUMP00000021417;forkhead box D4 like 3;forkhead box protein D4-like 2 protein-coding ENSG00000187559 18523 17011 611086 VALIDATED 1353322 FOXG1C forkhead box G1C q11.2 1580863 12508121;7959731 2292 Q14488 X74144 CAA52241;Q14488 Hs.649934 FHKL3;FKHL3;HBF-3;HFK3 protein-coding 3813 1604667 FOXD4L6 forkhead box D4-like 6 9 9 q21.11 68489300 68492024 - 69199480 69202204 - 18029348;12477932;12234674 653404 Q3SYB3 AF343006;BC103887;BC137365;BC137366;BX255923;NM_001085476 AAI03888;AAI37366;AAI37367;AAL73343;ABZ92214;NP_001078945;Q3SYB3 Hs.652377 5124131 RH70565 MGC119257 FOXD4-like 6;OTTHUMP00000069726;forkhead box protein D4-like 6 protein-coding ENSG00000204793 31986 VALIDATED 1346778 FOXD4 forkhead box D4 This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012] 9 9 p24.3 106234 108419 - 116231 118417 - 1580863;6480464 8889548;7957066;9325056;17273782;15489334;15164053;12477932;12421752;12234674;8825632;15233989;18029348;21948691;15492844;20650821;21482378;22876580 2298 Q12950;Q6VB86 ABBA01009603;AF343004;AF452724;AL449043;AMYH01019173;AY344640;BC089432;BC103886;BC136570;BC136571;CA313252;CF139066;NG_032165;NM_207305;U13223 AAA92040;AAH89432;AAI03887;AAI36571;AAI36572;AAL73341;AAN64909;AAQ76878;NP_997188;Q12950 Hs.584759 5124131;5493845 RH70565;UniSTS:495278 FKHL9;FOXD4A;FREAC-5;FREAC5;MGC105106 FREAC-5;OTTHUMP00000022747;forkhead box protein D4;forkhead, Drosophila, homolog-like 9;forkhead-like 9;forkhead-related activator 5;forkhead-related protein FKHL9;forkhead-related transcription factor 5;myeloid factor-alpha APPROVED protein-coding ENSG00000170122 3805 03056 601092 REVIEWED 2302532 FOXI3 forkhead box I3 2 2 2 p11.2 88034019 88038349 + 88520284 88539630 - 88747726 88752053 - 18787161;15815621 344167 A8MTJ6 ABBA01018811;AC012671;AMYH01010628;BN001221;BN001222;NM_001135649 A8MTJ6;CAR63508;CAR63509;NP_001129121 Hs.716722 1755305 SHGC-142192 forkhead box protein I3 protein-coding 35123 612351 PROVISIONAL 1346258 FOXG1 forkhead box G1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and the telencephalon. q13 1580863;7240710 7599184;17260156;12477932;7959731;10938097 2291 P55316 BC040960;X74143;X78202 CAA52240;CAA55038;P55316 Hs.649934;Hs.653289 1746989;1788946;1795860;1850293;2110921;2174992;5122668 D14S103E;FOXG1B_455;Foxg1;SGC34532;SHGC-12931;UniSTS:225243;WI-19182 BF1;BF2;FKH2;FKHL1;FKHL2;FKHL3;FKHL4;FOXG1A;FOXG1B;FOXG1C;HBF-2;HBF-3;HBF-G2;HBF2;HFK1;HFK2;HFK3;KHL2;QIN protein-coding 3811 164874;613454 1322645 FOXH1 forkhead box H1 FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008] 8 8 q24.3 145670306 145672526 - 145699115 145701718 - 1580863;2302137;6480464;5143919 16322555;18061509 18538293;9389648;9702198;19525021;16120611;15982639;15750622;15737749;15363409;12477932;12471260;11371641;11076863;10938097;9858566;9288972;10199400;15084259;17438144;17474147;19711044;20634891;12732634;20211142;21828274;17507406;20301702;16916642;19420158;16636667;18922797 8928 O75593;Q6P0Y2 ABBA01005203;AC084125;AF076292;AMYH01019155;BC051376;BC065377;BE550635;CH471162;CX782591;NG_030003;NM_003923 AAC34303;AAH65377;AAI11605;EAW82083;EAW82084;NP_003914;O75593 Hs.708365 1795862 FOXH1_434.2 FAST-1;FAST1 OTTHUMP00000228774;TGF-beta/activin signal transducer;fast-2;forkhead activin signal transducer 1;forkhead activin signal transducer 2;forkhead activin signal transducer-1;forkhead box protein H1;hFAST-1 APPROVED protein-coding ENSG00000160973 3814 04689 603621 REVIEWED 1602262 FOXI2 forkhead box I2 10 10 10 q26.2 123207312 123211234 + 129425942 129429440 + 129535538 129539450 + 6480464 16289364;12477932 399823 Q6ZQN5 ABBA01009089;AK128865;AL391005;AMYH01003173;BC137296;BC137297;NM_207426 AAI37297;AAI37298;BAC87649;NP_997309;Q6ZQN5 Hs.449674 1685866 RH93036 FLJ46831 OTTHUMP00000211174;forkhead box protein I2;homolog of mouse Foxi2 protein-coding ENSG00000186766 32448 13540 VALIDATED 1348211 FOXF1 forkhead box F1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008] 16 16 q24 85101634 85105571 + 86544133 86548070 + 1580863;6480464;6484113;7240710 9722567;7957066;8626802;9769171;19500772;18564921;16772323;16448649;16344560;15489334;12477932;8825632;7959731;20549505;19822228;19851296;20145151;20198315;20233876;21271214;21964066;21315191;23103611;22961001;23034409;23322567 2294 Q12946 ABBA01034302;AC009108;AF085343;AK314167;AMYH01007897;BC089442;CA438612;CH471114;DB011539;NG_016273;NM_001451;U13219 AAC50399;AAC61576;AAH89442;ACE86822;ACE87508;BAG36851;EAW95424;NP_001442;Q12946 Hs.155591 1657542;1673628 RH70564;STS-U13219 ACDMPV;FKHL5;FREAC1;MGC105125 FREAC-1;Forkhead, drosophila, homolog-like 5;OTTHUMP00000175006;forkhead box protein F1;forkhead-related activator 1;forkhead-related protein FKHL5;forkhead-related transcription factor 1 APPROVED protein-coding ENSG00000103241 3809 03053 265380;601089 REVIEWED 737514 FOXG1B forkhead box G1B This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. 14 q12-q13 28306038 28308622 + 1580863;704404;6480464;7240710 7959731;16133170;15084259;12657635;12477932;11387330;11238932;10938097;10498272;10373304;8170957;8099441;7957066;7599184;7585630 2290 P55315;P55316;Q86XT7 AL049777;BC035020;BC050072;CH471078;CR602240;CR617342;NM_005249;X74142 AAH50072;CAA52239;EAW65978;NP_005240;P55315;Q86XT7 Hs.649934;Hs.688232 BF1;FKH2;FKHL1;FKHL4;HBF-1;HFK1;QIN forkhead box o1 protein-coding 3812 01283 164874;613454 1316609 FOXI1 forkhead box I1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q34 165564551 165568363 + 169465495 169469307 + 169532917 169536729 + 1580863;6480464;7240710 7957066;19214237;18564921;15489334;12695546;12477932;9153225;8825632;7683413;21145461;20621367;20809947;21832049;22412181;20301607;20301640 2299 E0XEN6;Q12951 ABBA01044102;AC008660;AK292176;AMYH01015802;AY707089;BC029778;CH471062;GU049150;GU049151;GU049152;GU049153;GU049154;GU049155;GU049156;GU049157;GU049158;GU049159;GU049160;GU049161;GU049162;GU049163;GU049164;GU049165;GU049166;GU049167;GU049168;GU049169;GU049170;GU049171;GU049172;GU049173;GU049174;GU049175;GU049176;GU049177;GU049178;GU049179;GU049180;GU049181;GU049182;GU049183;GU049184;GU049185;GU049186;GU049187;GU049188;GU049189;GU049190;GU049191;GU049192;GU049193;GU049194;GU049195;GU049196;GU049197;GU049198;GU049199;GU049200;GU049201;GU049202;GU049203;GU049204;GU049205;GU049206;GU049207;GU049208;GU049209;GU049210;GU049211;GU049212;GU049213;GU049214;GU049215;GU049216;GU049217;GU049218;GU049219;GU049220;GU049221;GU049222;GU049223;GU049224;GU049225;GU049226;GU049227;GU049228;GU049229;GU049230;GU049231;GU049232;GU049233;GU049234;GU049235;GU049236;GU049237;GU049238;GU049239;GU049240;GU049241;GU049242;GU049243;GU049244;GU049245;GU049246;GU049247;GU049248;GU049249;GU049250;GU049251;GU049252;GU049254;GU049255;GU049256;GU049257;GU049258;GU049259;GU049260;GU049261;GU049262;GU049263;GU049264;GU049265;GU049266;GU049267;GU049268;GU049269;L13203;NG_012068;NM_012188;NM_144769;U13224 AAA92041;AAB50574;AAH29778;AAU12169;ADN03217;ADN03218;ADN03219;ADN03220;ADN03221;ADN03222;ADN03223;ADN03224;ADN03225;ADN03226;ADN03227;ADN03228;ADN03229;ADN03230;ADN03231;ADN03232;ADN03233;ADN03234;ADN03235;ADN03236;ADN03237;ADN03238;ADN03239;ADN03240;ADN03241;ADN03242;ADN03243;ADN03244;ADN03245;ADN03246;ADN03247;ADN03248;ADN03249;ADN03250;ADN03251;ADN03252;ADN03253;ADN03254;ADN03255;ADN03256;ADN03257;ADN03258;ADN03259;ADN03260;ADN03261;ADN03262;ADN03263;ADN03264;ADN03265;ADN03266;ADN03267;ADN03268;ADN03269;ADN03270;ADN03271;ADN03272;ADN03273;ADN03274;ADN03275;ADN03276;ADN03277;ADN03278;ADN03279;ADN03280;ADN03281;ADN03282;ADN03283;ADN03284;ADN03285;ADN03286;ADN03287;ADN03288;ADN03289;ADN03290;ADN03291;ADN03292;ADN03293;ADN03294;ADN03295;ADN03296;ADN03297;ADN03298;ADN03299;ADN03300;ADN03301;ADN03302;ADN03303;ADN03304;ADN03305;ADN03306;ADN03307;ADN03308;ADN03309;ADN03310;ADN03311;ADN03312;ADN03313;ADN03314;ADN03315;ADN03316;ADN03317;ADN03318;ADN03319;ADN03321;ADN03322;ADN03323;ADN03324;ADN03325;ADN03326;ADN03327;ADN03328;ADN03329;ADN03330;ADN03331;ADN03332;ADN03333;ADN03334;ADN03335;ADN03336;BAF84865;EAW61489;EAW61490;NP_036320;NP_658982;Q12951 Hs.87236 1780766;1797540 FOXI1_2406;bac51983S FKH10;FKHL10;FREAC-6;FREAC6;HFH-3;HFH3;MGC34197 FREAC-6;HFH-3;HNF-3/fork-head homolog 3;HNF-3/fork-head homolog-3;OTTHUMP00000160993;OTTHUMP00000223159;forkhead box protein I1;forkhead-like 10;forkhead-related activator 6;forkhead-related protein FKHL10;forkhead-related transcription factor 6;hepatocyte nuclear factor 3 forkhead homolog 3 APPROVED protein-coding ENSG00000168269 3815 03057 600791;601093 REVIEWED 732358 FOXJ1 forkhead box J1 This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009] 17 17 q25.1 71644009 71648161 - 74132414 74137380 - 704404;1580863;6480464 17474147;9073514;18160851;16518568;15489334;12477932;11060460;9530170;9096351;17008636;20539013;21988832;23479743 2302 Q92949 ABBA01028754;AC018665;AJ272064;AMYH01008639;BC046460;CH471099;DB458983;NG_013345;NM_001454;U69537;X99349;X99350 AAB09039;AAH46460;CAA67729;CAA67730;CAB76562;EAW89375;EAW89376;NP_001445;Q92949 Hs.651204 2168011 RH18286 FKHL13;HFH-4;HFH4;MGC35202 fork head homologue 4;forkhead box protein J1;forkhead transcription factor HFH-4;forkhead-like 13;forkhead-related protein FKHL13;hepatocyte nuclear factor 3 forkhead homolog 4 APPROVED protein-coding ENSG00000129654 3816 03798 602291 REVIEWED 1323400 FOXJ3 forkhead box J3 1 1 1 p34.2 40924186 41082831 - 42414797 42573490 - 42642210 42801548 - 1580863;6480464 15489334;12477932;12421765;10470851;20379614;16751776;20811636;22740631;22939629;19322201 22887 C9JVP0;C9JXI1;F6VXT0;H7C1Y6;Q9UPW0 AB028964;ABBA01023135;ABBA01023136;ABBA01023137;ABBA01023138;ABBA01023139;AC096540;AC114492;AK027075;AK128307;AL157422;AMYH01000548;AMYH01000549;AMYH01000550;BC014182;BC063298;BC151828;BC152441;CH471059;NM_001198850;NM_001198851;NM_001198852;NM_014947 AAH14182;AAI51829;AAI52442;AAI60166;BAA82993;CAB75651;EAX07162;EAX07163;EAX07164;EAX07165;EAX07166;EAX07167;NP_001185779;NP_001185780;NP_001185781;NP_055762;Q9UPW0 Hs.26023 1338595;1340898;1682065;2107113;2123796;2151686;5037552 D1S1586;D1S1641;D3S1530;D8S2279;FOXJ3__6751;RH47361;RH92010 MGC165036;MGC176686 OTTHUMP00000007928;OTTHUMP00000007929;OTTHUMP00000007930;forkhead box protein J3 protein-coding ENSG00000198815 29178 13549 VALIDATED 1349825 FOXN1 forkhead box N1 Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008] 17 17 q11-q12 23875086 23889302 + 26850959 26865175 + 1599846;1580863;6480464;7240710 10206641 10767081;7969402;17803914;17592270;16232301;15316080;15180707;10483588;9321431;19729838;20429426;20634891;21507891;22721479 8456 J3KRT9;O15353 ABBA01015054;AC005726;AK313878;AMYH01008279;CH471159;NG_007260;NM_003593;Y11739;Y11740;Y11741;Y11742;Y11743;Y11744;Y11745;Y11746 AAI40424;AAI46540;BAG36604;CAA72416;CAA72417;EAW51092;NP_003584;O15353 Hs.663679 FKHL20;RONU;WHN OTTHUMP00000163432;Rowett nude;forkhead box protein N1;winged helix nude;winged-helix nude;winged-helix transcription factor nude APPROVED protein-coding 12765 02907 600838;601705 REVIEWED 1313423 FOXK2 forkhead box K2 The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008] 17 17 q25 78070883 78155772 + 80477594 80562483 + 6480464 1909027;16624804;1339390;12402362;16964243;16625196;14702039;12477932;11230166;9065434;3260003;19615732;18029348;19815555;20097901;20810654;21693764;20805357;21903422;22083952 3607 E9PM37;E9PPI7;I3L4U8;Q01167 AA889932;ABBA01019682;ABBA01019683;ABBA01019684;ABBA01019685;ABBA01019686;ABBA01019687;ABBA01019688;ABBA01019689;ABBA01019690;AC124283;AC124287;AK096800;AK098140;AL832570;AMYH01008733;AMYH01008734;AMYH01008735;AMYH01008736;BC041569;CH471099;NM_004514;U58196;U58197;U58198 AAB02820;AAB02821;AAB02822;EAW89800;EAW89801;EAW89802;NP_004505;Q01167 Hs.591140 1697492;1754769;1775131;1797542;2139374;2151493;2172071;5094056;5125210 A005V25;D17S1282;FOXK2_2224;G34945;RH102248;RH44904;RH69204;RH79162;SHGC-33383 ILF;ILF-1;ILF1 FOXK1;OTTHUMP00000179134;OTTHUMP00000233365;cellular transcription factor ILF-1;forkhead box protein K2;interleukin enhancer binding factor 1;interleukin enhancer-binding factor 1 APPROVED protein-coding ENSG00000141568 6036 00982 147685 REVIEWED 1344904 FOXJ2 forkhead box J2 12 12 12 p13.31 9762431 9785190 + 8076626 8099385 + 8185359 8208118 + 1580863;6480464 15489334;14702039;12787665;12477932;10966786;10777590;9110174;8889548;8619474;22441887;18029348;18564921;19423540;20237496;20406964;20438785;21832049;19953087;19322201 55810 Q9P0K8 ABBA01012234;ABBA01012235;ABBA01012236;AC006511;AF038177;AF155132;AF155133;AK092529;AL161978;AMYH01004224;BC126396;BC136305;CB243304;CH471116;NM_018416 AAF65927;AAI26397;AAI36306;AAK49016;ADR83070;CAB82315;EAW88642;EAW88643;NP_060886;Q9P0K8 Hs.120844 1678613;1683599;1699978;1733590 D12S1089;RH103599;RH75303;RH91579 FHX FOXJ2 forkhead factor;OTTHUMP00000238947;OTTHUMP00000238948;fork head homologous X;forkhead box protein J2 protein-coding ENSG00000065970 24818 17014 VALIDATED 1353210 FOXL1 forkhead box L1 This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012] 16 16 16 q24 70913076 70916265 + 85169616 85172805 + 86612115 86615304 + 1580863;6480464 7957066;11078474;18564921;15489334;15188402;12477932;8889548;19801982;20198651;21536545;21457232;22504420;23251661 2300 M0R279;Q12952;Q498Y4 ABBA01034304;AC009108;AF315075;AMYH01007897;BC100027;BC117226;BM675371;CH471114;NG_032995;NM_005250;U13225 AAA92042;AAG40312;AAI00028;AAI17227;EAW95414;NP_005241;Q12952 Hs.533830 5492883 UniSTS:483145 FKH6;FKHL11;FREAC7 FREAC-7;OTTHUMP00000175008;forkhead box protein L1;forkhead-like 11;forkhead-related protein FKHL11;forkhead-related transcription factor 7 protein-coding ENSG00000176678 3817 07219 603252 REVIEWED 1604502 FOXK1 forkhead box K1 7 7 7 p22.1 4681702 4770725 + 4688456 4777600 + 4721930 4811074 + 6480464 17081983;16624804;15489334;15289879;15202027;14702039;12853948;12477932;17353931;18029348;19615732;19815555;20562859;22740631;22863883;20805357;21903422 221937 P85037 ABBA01039429;AC072054;AC092428;AC092610;AK027883;AK122663;AK302243;AMYH01016990;AW205747;BC038434;CB959941;CH471144;NM_001037165 BAG53651;BAG63595;EAW87291;NP_001032242;P85037 Hs.487393 1645740;1668335;1675995;1852750;1852952;2131710;2140939;2146807;2153580;5014051;5015619;5015879;5015961;5016478;5020948;5022200;5022578;5022651;5024272;5037552;5109281;5117020 A008Y33;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D2S1254;D7S2724;D8S2278;D8S2279;FOXK1;G35510;GDB:1317210;GDB:314949;GDB:3778183;GDB:434012;GDB:4585474;GDB:4585535;GDB:4585566;L18426;RH45530;RH92527 FLJ14977;FOXK1L MNF;OTTHUMP00000200456;forkhead box protein K1;myocyte nuclear factor protein-coding ENSG00000164916 23480 18750 VALIDATED 6482615 FOXN3P1 forkhead box N3 pseudogene 1 X q22.1 101801667 101803142 - 643976 ABBA01020946;AL035551;AMYH01022792;NG_022627 pseudo 43882 INFERRED 1320713 FOXL2 forkhead box L2 This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jun 2009] 3 3 q23 140145756 140148491 - 138663066 138665982 - 1580863;1598958;6480464;7240710 11175783 22336067;21289058;16153597;12471206;12630957;12149404;12161610;19516027;19371227;19106105;19010791;18726931;18721930;18642388;18635577;18372316;18158309;18028747;17968144;17277738;17089161;16814186;16394030;16283882;16219626;16131596;16086270;15962237;15591279;15489334;15300845;15257268;15181179;15081106;12938087;12567411;12560069;12529855;12477932;12400065;11960581;11910558;11776388;11474656;11468277;10702024;10036183;1941972;21321671;21068205;21325395;20711176;20207836;20233786;16720712;17393695;19324968;19515849;19543368;19592504;19706741;19744555;19797124;19917504;19929410;19956657;19969293;19996294;20098707;20184535;20198651;20222838;20448577;22296244;22312189;17897532;20236120;20459545;20209145;21146150;18484667;20734064;20301614;20693978;21051974;21119601;21378549;22544055;21188138;21271216;21862621;21055199;23029457;21478824;21640373;21293260;21632871;21682576;22022399;22164424;21763750;22797072;22171663;21623383;22200085;19322201;22742556;22926839;23516377;23051594;20407010;23044875 668 P58012;Q53ZD3 ABBA01059072;AC092947;AF301906;AI089172;AMYH01013535;AMYH01013536;AY331134;BC019896;BC062549;BF512713;DQ016593;DQ016608;DQ016609;DQ089670;DQ089671;DQ089672;NG_012454;NG_029796;NM_023067 AAH19896;AAH62549;AAK01352;AAQ01519;AAY21821;AAY21822;AAY21823;AAY89234;AAY89235;AAY89236;NP_075555;P58012 Hs.289292 1797544;2165728;2218710 FOXL2_1880.3;RH47988;UniSTS:463206 BPES;BPES1;PFRK;PINTO;POF3 OTTHUMP00000216888;forkhead box protein L2;forkhead transcription factor FOXL2 APPROVED protein-coding ENSG00000183770 1092 05723 110100;605597;608996 REVIEWED 6892820 FOXN3-AS1 FOXN3 antisense RNA 1 14 q32.11 89883698 89886137 + 12477932 400236 G3V4D6 ABBA01030519;AL356805;AMYH01005939;BC067103;NR_036500 Hs.585207 1657340 RH70765 APPROVED miscrna ENSG00000258920 44290 VALIDATED 1343239 FOXO1B forkhead box O1B pseudogene 5 5 q35.3 180458383 180460484 - 180525777 180527878 - 9479491 2311 ABBA01010091;AC008620;AF032888;AMYH01015975;NG_001120 FKHRP1 pseudo 3820 INFERRED 1604404 FOXM1 forkhead box M1 The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 12 12 p13 2837110 2856564 - 2966847 2986321 - 2315927;6480464 19833884 21507930;22296117;10523841;16809346;19351851;19276163;19160488;19121844;19097132;18974115;18758239;18573889;18524773;18393292;18297053;18285455;18254960;18020943;17984092;17804744;17101782;17014965;16955137;16913845;16701100;16585184;16504183;16489016;16314512;15958562;15489334;15302935;15024056;14686788;12477932;12183437;11861839;9441747;9242644;9032290;8290587;15654331;20531406;21281787;19813088;20823107;20658516;20712011;20660304;20187950;20400365;20530690;21062979;20660612;18029348;20211142;20800603;20379221;16913846;19200615;19440351;19513552;19525975;19615363;19672312;19696738;19737929;20028985;20068070;20154714;20190804;20332230;20351091;20351289;20816795;22581827;22831955;22919068;22939629;20372080;21291630;21918172;21225456;21482449;21334713;16344560;21325289;21431285;23010597;23054116;22271891;21903609;21978825;22461910;21712406;21518729;21503965;21875579;21813648;21979956;21941087;22126565;22249132;19471022;22391450;23018647;23285957;21693764;22049175;21858223;22014570;22033266;22230500;17828269;21976009;22447226;22194465;22393369;21875482;23325617;23333330;23262037;23110199;23240008;21988832;22094256;22589409;22939624;23006512;23037713;23263830;23167412;22613004;22813746;22943878;22710948;23136192;23365673;23109430;22900969;23192351;23288041 2305 A8K591;H0YG99;H0YGS4;Q08050;Q53Y49 ABBA01048796;ABBA01048797;AC005841;AC005911;AK291206;AK313845;AMYH01004182;AW780338;AY542306;BC006192;BC006529;BC012863;BC035437;BQ229497;BT006986;CH471116;CS174342;DB137846;DQ022289;FB292650;JA417749;L16783;NG_029590;NM_001243088;NM_001243089;NM_021953;NM_202002;NM_202003;U74612;U74613;U83113 AAC37541;AAC51128;AAC51129;AAC63595;AAH06192;AAH06529;AAH12863;AAP35632;AAT08175;AAY26401;ADZ15712;BAF83895;CAJ34550;CAP58600;CCD32724;EAW88880;EAW88881;EAW88882;EAW88883;NP_001230017;NP_001230018;NP_068772;NP_973731;NP_973732;Q08050 Hs.239;Hs.735243 1685463;1687598;2119283;2145395;2151187 D12S1971;RH39759;RH45038;SHGC-30387;STS-T90364 FKHL16;FOXM1B;HFH-11;HFH11;HNF-3;INS-1;MPHOSPH2;MPP-2;MPP2;PIG29;TGT3;TRIDENT Forkhead, drosophila, homolog-like 16;HNF-3/fork-head homolog 11;M-phase phosphoprotein 2;MPM-2 reactive phosphoprotein 2;OTTHUMP00000237983;OTTHUMP00000237984;OTTHUMP00000237985;forkhead box protein M1;forkhead-like 16;forkhead-related protein FKHL16;hepatocyte nuclear factor 3 forkhead homolog 11;transcription factor Trident;winged-helix factor from INS-1 cells APPROVED protein-coding ENSG00000111206 3818 03823 602341 REVIEWED 1343664 FOXN2 forkhead box N2 This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [provided by RefSeq, Jul 2008] 2 2 2 p22-p16 48381574 48446198 + 48395299 48459938 + 48541795 48606434 + 1580863;6480464 1639393;18029348;14702039;12477932;20379614;21531217;21845734;19322201 3344 C9JTA7;P32314 AA827684;ABBA01075186;AC091485;AK123200;AMYH01010333;BC063305;BC069731;BQ025120;CR749839;NM_002158;U57029 AAB03504;AAH63305;AAH69731;AAY14813;ABZ92013;NP_002149;P32314 Hs.468478 1852189;2158722;2161062;2178548;2217456 HTLF_1826;RH68547;RH71240;SHGC-35937;STS-T50209 HTLF OTTHUMP00000159451;OTTHUMP00000200474;forkhead box protein N2;human T-cell leukemia virus enhancer factor APPROVED protein-coding ENSG00000170802 5281 00882 143089 REVIEWED 1314977 FOXN4 forkhead box N4 Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008] 12 12 12 q24.11 109340232 109371435 - 108200167 108231408 - 109715783 109747025 - 6480464 16541075;15492871;15464224;15363391;14702039;12477932 121643 A6H901;Q96NZ1 AA421288;ABBA01005066;AC012384;AF425596;AF425597;AK093286;AK131519;AMYH01004735;BC113073;BC146825;CH471054;NM_213596 AAI13074;AAI46826;AAL23949;AAL23950;BAD18661;EAW97856;EAW97857;NP_998761;Q96NZ1 Hs.528316 1681402;2217338 FOXN4_3704;RH92201 FLJ35967 OTTHUMP00000202582;forkhead box protein N4;forkhead/winged helix transcription factor FOXN4 APPROVED protein-coding ENSG00000139445 21399 13550 609429 VALIDATED 6892830 FOXN3-AS2 FOXN3 antisense RNA 2 14 q32.11 90042560 90043821 + 12477932;12508121;15489334 29018 Q9UHT9 ABBA01030516;AF118074;AL163032;AMYH01005942;BC069658;BC069757;BC069775;CH471061;NR_024620 AAF22018;EAW81408;Q9UHT9 Hs.673124 PRO1768 APPROVED miscrna ENSG00000259073 30119 VALIDATED 2292467 FOXO6 forkhead box O6 1 1 p34.2 41599814 41620940 + 41827227 41848353 + 6480464 16710414;12857750;20379614;21388494;21708191;21940782;21926972 100132074 A6NCE0;A8MYZ6 ABBA01023149;ABBA01023150;ABBA01023151;AC093151;AI341823;AI361654;AMYH01000542;AMYH01000543;AMYH01000544;AMYH01000545;XM_002342102;XM_003846623;XM_003960121 A8MYZ6;XP_002342143;XP_003846671;XP_003960170 Hs.559677 OTTHUMP00000006324;forkhead box O6;forkhead box protein O6 protein-coding 24814 611457 MODEL 1313904 FOXN3 forkhead box N3 This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q31.3 69670626 70132768 - 88692269 89155247 - 89622516 90085494 - 1580863;6480464 16951149;16102918;9154802;18074379;17983802;15489334;15342556;15231747;14702039;12508121;12477932;11483580;8889549;8617492;8125298;19322201;20634891;19609547;20379614;20691664;22581228;23133627 1112 G3V3A7;G3V4N5;G3V5C7;H0YJ22;H0YJ43;H0YJ54;H0YJ94;H0YJG3;H0YJY0;O00409 AA149521;AA938188;ABBA01030514;ABBA01030515;ABBA01030516;ABBA01030517;ABBA01030518;ABBA01030519;ABBA01030520;AC007263;AF116643;AI084011;AI240081;AK055175;AK123929;AK225967;AK308053;AK314098;AL137230;AL138478;AL157736;AL163032;AL356805;AL357093;AMYH01005939;AMYH01005940;AMYH01005941;AMYH01005942;BC007506;BC010227;BC010460;BP213901;CB268882;CB989352;CH471061;NM_001085471;NM_005197;U68723 AAB58252;AAF18259;AAF71066;AAH07506;ACE86725;ACE87411;BAG36793;EAW81403;EAW81404;EAW81405;EAW81406;NP_001078940;NP_005188;O00409 Hs.434286 1338076;1341219;1649563;1651297;1651631;1657340;1670750;1672476;1679401;1681807;1686116;1702054;1710606;1713377;1718897;1728689;1730161;1736406;1739141;1754777;1759197;1765881;1767610;1775979;1779838;1783080;1849156;2125244;2131909;2137851;2144219;2144221;2147942;2149755;2157642;2162285;2162527;2168025;2173485;2180032;2183275;5093962;5123969;5127284 A006I41;A009Z34;AFMB322ZD9;BCD2267;D14S1044;D14S1066;D14S1309;D14S663E;D14S796;D14S825E;D14S839;D14S84E;D17S1981;G20858;G33025;G35371;G35779;G35884;G35943;G36076;G36276;G36293;G63636;GDB:451535;RH119543;RH123154;RH44912;RH68758;RH70765;RH78193;RH79968;RH80006;RH99189;SGC30907;SHGC-149301;SHGC-150901;SHGC-153839;SHGC-154522;SHGC-24269;SHGC-31015;SHGC-33595;SHGC-57697;SHGC-84090;STS-R16989 C14orf116;CHES1;PRO1635 OTTHUMP00000244668;OTTHUMP00000244669;OTTHUMP00000244670;OTTHUMP00000244769;checkpoint suppressor 1;forkhead box protein N3 APPROVED protein-coding ENSG00000053254 1928 07533 602628 REVIEWED 1348072 FOXO3B forkhead box O3B pseudogene 17 17 p11.2 18514352 18517595 - 18569236 18576494 - 6480464 12477932;9852958;9479491;22588664 2310 ABBA01002163;AC026271;AF032887;AF041336;AMYH01008178;AMYH01008179;BC015367;NR_026718 Hs.592126 1679187;1684856;1690163;1734512;1856510;2106477;2161167;2191075 D17S1454E;D17S2019;FOXO3A_4088;MARC_14315-14316:1007670343:1;RH65484;RH67795;RH75343;RH78823 FKHRL1P1;ZNF286C pseudo 3822 PROVISIONAL 737155 FOXO1 forkhead box O1 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008] 13 13 q14.1 40027801 40138734 - 41129801 41240734 - 704404;1582564;1580863;2301729;2302137;6480464;6484113;6907045;5143919 16952980;18336616;16322555;18061509 22213032;22417654;22454413;21541992;8634710;22389493;18022385;18006475;17993506;17986608;17873969;17638879;17613043;17609436;17599040;17597184;17556536;17555999;17525748;17491598;17490646;17478621;17442120;17404186;17285543;17258205;17218607;17077083;17038621;16979636;16973122;16964289;16952014;16950602;16943287;16916907;16885156;16849544;16709600;16690806;16670089;16571842;16497530;16492665;16485043;16282329;16133873;16123151;16100571;16076959;15987820;15905404;15890677;15778376;15692560;15688409;15688035;15632117;15613482;15582274;15489334;15342912;15184910;15140004;15109499;11353774;17202144;18408765;12228231;7862145;10871843;11311120;19321440;19308286;19281796;19254690;19244250;19233123;19221179;19150739;19141580;19103600;19086408;19075016;19058789;19049975;18988640;18951090;18844239;18815134;18805788;18787186;18786403;18718910;18713968;18692812;18660489;18612045;18497885;18497882;18483260;18420577;18356527;18316359;18303411;18301748;18280254;18096667;15084259;15057823;15047604;14726521;14664696;12960271;12921955;12606503;12560069;12519792;12493691;12482965;12477932;12242297;12163409;12150827;12039929;11980723;11893744;11735247;11672436;11435445;11237865;11030146;10973497;10783894;10358075;10358014;9479491;8790412;8275086;7630639;20682687;19757185;19772960;20406953;20868688;15668399;17050673;19740748;20819778;20884733;20933505;20543840;16154098;20719862;20151947;20485516;12966085;17030088;18029348;18788887;19442434;19463968;19483080;19503105;19513505;19549905;19563779;19574223;19584310;19633686;19675556;19696738;19727442;19787258;19793722;19887561;19893043;19948975;19953635;19956688;20018872;20033803;20061393;20095040;20351326;20353756;20357092;20412774;22675169;22865884;20125105;21069157;21075101;21442235;13679577;21185807;21177856;15220471;19686743;20874444;21696576;21177767;23105097;23291589;21179458;21321994;21505104;19293131;19535741;21423212;23029264;17210752;21655267;21697492;21670150;23460611;23255113;21116854;22992773;21298325;21373837;21510935;21238503;21320536;21388494;21396404;21440011;21440577;21539865;21708191;21747041;21804543;21775495;22343918;21993163;21613825;22013015;22180177;22266855;22515357;22072736;22761592;22538365;23077062;23035900;21666686;22489460;22089931;22411791;22569260;22197543;22315317;22374423;22400069;22159921;22653055;23002242;23160481;23532851;22931788;23041154;23389878;23401241;22761423;22552808;23142810;22821817 2308 Q12778 ABBA01021294;ABBA01021295;ABBA01021296;AF032885;AL133318;AL355132;AL592167;AMYH01005056;AMYH01005057;BC021981;BC070065;BT007455;BX648278;CH471075;NG_023244;NM_002015;U02310;U36922 AAA03629;AAC39591;AAH21981;AAH70065;AAP36123;EAX08627;NP_002006;Q12778 Hs.370666 1667591;1683152;1707760;1725519;1737523;1747085;1779802;1793672;1795864;1848446;2135334;2151857;2168761;5016919 D13S1051;D13S1162;D13S1447;FOXO1A_111;G64954;PMC25098P1;RH119158;RH47740;RH74854;RH78770;RH93960;SHGC-153775;SHGC-63663;SHGC-82099 FKH1;FKHR;FOXO1A OTTHUMP00000018301;forkhead box protein O1;forkhead box protein O1A;forkhead homolog in rhabdomyosarcoma;forkhead in rhabdomyosarcoma;forkhead, Drosophila, homolog of, in rhabdomyosarcoma APPROVED protein-coding ENSG00000150907 3819 00645 136533 REVIEWED 1353756 FOXO4 forkhead box O4 This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X q13.1 70232751 70240109 + 70315999 70323384 + 1580863;2302137;6480464;6484113;5143919 16322555;18061509 14690436;9341872;15126506;10783894;16054032;10217147;12761217;16272144;19244250;18794148;18692812;18665269;18648506;17244620;16571842;16215946;16114898;15905404;15824087;15688030;15688004;15538382;15489334;15342556;15084259;12964026;12960271;12477932;12192052;11884591;11779849;11777915;11689711;11435445;11352721;11313479;10973497;10921784;10880363;10518537;7529552;9010221;20136501;16964248;19416966;19560465;19932102;20348951;21454807;20037138;20570964;20934750;21123876;21525355;20733005;21510935;21567078;22112832;22125836;21388494;21536589;21708191;20874444;21934092;21613825;22411791;23333309;22285440 4303 P98177 ABBA01067665;AF384029;AL590764;AMYH01022534;AW292413;BC026735;BC106761;BP349083;CH471132;NG_016418;NM_001170931;NM_005938;U10072;X93996;Y11284;Y11285;Y11286 AAA82171;AAI06762;AAL85197;CAA63819;CAA72156;EAX05321;EAX05322;NP_001164402;NP_005929;P98177 Hs.584654 AFX;AFX1;MGC120490;MLLT7 OTTHUMP00000023496;OTTHUMP00000023497;fork head domain transcription factor AFX1;forkhead box protein O4 APPROVED protein-coding ENSG00000184481 7139 02070 300033 REVIEWED 1322820 FOXP4 forkhead box P4 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43067608 43123566 + 41622142 41678100 + 41514164 41570122 + 737633;1582564;1580863;6480464 12477932;16952980 18322169;17567994;15492844;15489334;14702039;14701752;14516685;12818433;12617805;18029348;20237496;22662242;19913121;20628086;20676098;22939629;19471022;21693764;21890473;22912696 116113 A2A312;B7ZBM3;Q8IVH2 AB080747;ABBA01050753;ABBA01050754;AK094912;AK098227;AL139331;AL832437;AMYH01016296;AW450805;BC009628;BC013030;BC016874;BC034931;BC040962;BC052803;CH471081;DQ656018;NM_001012426;NM_001012427;NM_138457 AAH13030;AAH16874;AAH34931;AAH40962;AAH52803;ABZ92377;BAC53809;CAH10652;EAX04047;EAX04048;EAX04049;EAX04050;NP_001012426;NP_001012427;NP_612466;Q8IVH2 Hs.131436 1800896;1801166;1801810;1803386;1804008;1804230;1804378;1804478;1804592;1804928;1805090;1805358;1805360;1805832;1807140;1809120;1809216;1809466;1809670;1810236;1810238;1810402;1810906;1811052;1811130;1811294;1811680;1811772;1812068;1813064;1813216;1813712;1814658;1815212;1816096;1816174;1817972;1818056;1818138;1818856;1819300;1819498;1820646;1820694;1821032;1822072;1822860;1824858;1825022;1825248;1827282;1827452;1828208;1829270;1829272;1831360;1832508;1833988;1834434;1836120;1836510;1836858;1836962;1837800;1844500;1845188;1978056;1978058;1978060;1978062;1978064;1978066;1978068;1978070;1978072;1978074;1978076;1978078;1978080;1978082;1978084;1978086;1978088;1978090;1978092;1978094;1978096;1978098;1978100;1978102;1978104;1978106;1978108;1978110;1978112;1978114;1978116;1978118;1978120;1978122;1978124;1978126;1978128;1978130;1978132;1978134;1978136;1978138;1978140;1978142;1978144;1978146;1978148;1978150;1978152;1978154;1978156;1978158;1978160;1978162;1978164;1978166;1978168;1978170;1978172;1978174;1978176;1978178;1978180;1978182;1978184;1978186;1978188;1978190;1978192;1978194;1978196;1978198;1978200;1978202;1978204;1978206;1978208;1978210;1978212;1978214;1978216;1978218;1978220;1978222;1978224;1978226;1978228;1978230;1978232;1978234;1978236;1978238;1978240;1978242;1978244;1978246;1978248;1978250;1978252;1978254;1978256;1978258;1978260;1978262;1978264;1978266;1978268;1978270;1978272;1978274;1978276;1978278;1978280;1978282;1978284;1978286;1978288;1978290;1978292;1978294;1978296;1978298;1978300;1978302;1978304;1978306;1978308;1978310;1978312;1978314;1978316;1978318;1978320;1978322;1978324;1978326;1978328;1978330;1978332;1978334;1978336;1978338;1978340;1978342;1978344;1978346;1978348;1978350;1978352;1978354;1978356;1978358;1978360;1978362;1978364;1978366;1978368;1978370;1978372;1978374;1978376;1978378;1978380;1978382;1978384;1978386;1978388;1978390;1978392;1978394;1978396;1978398;1978400;1978402;1978404;1978406;1978408;1978410;1978412;1978414;1978416;1978418;1978420;1978422;1978424;1978426;1978428;1978430;1978432;1978434;1978436;1978438;1978440;1978442;1978444;1978446;1978448;1978450;1978452;1978454;1978456;1978458;1978460;1978462;1978464;1978466;1978468;1978470;1978472;1978474;1978476;1978478;1978480;1978482;1978484;1978486;1978488;1978490;1978492;1978494;1978496;1978498;1978500;1978502;1978504;1978506;1978508;1978510;1978512;1978514;1978516;1978518;1978520;1978522;1978524;1978526;1978528;1978530;1978532;1978534;1978536;1978538;1978540;1978542;1978544;1978546;1978548;1978550;1978552;1978554;1978556;1978558;1978560;1978562;1978564;2215958;2215960;2215962;2215964;2215966;2215968;2215970;2215972;2215974;2215976;2215978;2215980;2215982;2215984;2215986;2215988;2215990;2215992;2215994;2215996;2215998;2216000;2216002;2216004;2216006;2216008;2216010;2216012;2216014;2216016;2216018;2216020;2216022;2216024;2216026;2216028;2216030;2216032;2216034;2216036;5015619;5037552 D11S3114;D8S2279;ECD01313;ECD01455;ECD01786;ECD02590;ECD02919;ECD03038;ECD03113;ECD03164;ECD03228;ECD03400;ECD03487;ECD03626;ECD03627;ECD03867;ECD04536;ECD05549;ECD05598;ECD05725;ECD05827;ECD06110;ECD06111;ECD06193;ECD06451;ECD06524;ECD06563;ECD06645;ECD06844;ECD06890;ECD07039;ECD07551;ECD07628;ECD07879;ECD08359;ECD08641;ECD09088;ECD09127;ECD10041;ECD10084;ECD10125;ECD10492;ECD10717;ECD10816;ECD11398;ECD11422;ECD11592;ECD12122;ECD12518;ECD13528;ECD13610;ECD13725;ECD14756;ECD14842;ECD15229;ECD15764;ECD15765;ECD16816;ECD17393;ECD18141;ECD18365;ECD19221;ECD19418;ECD19593;ECD19645;ECD20070;ECD23464;ECD23811;REN59918;REN59919;REN59920;REN59921;REN59922;REN59923;REN59924;REN59925;REN59926;REN59927;REN59928;REN59929;REN59930;REN59931;REN59932;REN59933;REN59934;REN59935;REN59936;REN59937;REN59938;REN59939;REN59940;REN59941;REN59942;REN59943;REN59944;REN59945;REN59946;REN59947;REN59948;REN59949;REN59950;REN59951;REN59952;REN59953;REN59954;REN59955;REN59956;REN59957;REN59958;REN59959;REN59960;REN59961;REN59962;REN59963;REN59964;REN59965;REN59966;REN59967;REN59968;REN59969;REN59970;REN59971;REN59972;REN59973;REN59974;REN59975;REN59976;REN59977;REN59978;REN59979;REN59980;REN59981;REN59982;REN59983;REN59984;REN59985;REN59986;REN59987;REN59988;REN59989;REN59990;REN59991;REN59992;REN59993;REN59994;REN59995;REN59996;REN59997;REN59998;REN59999;REN60000;REN60001;REN60002;REN60003;REN60004;REN60005;REN60006;REN60007;REN60008;REN60009;REN60010;REN60011;REN60012;REN60013;REN60014;REN60015;REN60016;REN60017;REN60018;REN60019;REN60020;REN60021;REN60022;REN60023;REN60024;REN60025;REN60026;REN60027;REN60028;REN60029;REN60030;REN60031;REN60032;REN60033;REN60034;REN60035;REN60036;REN60037;REN60038;REN60039;REN60040;REN60041;REN60042;REN60043;REN60044;REN60045;REN60046;REN60047;REN60048;REN60049;REN60050;REN60051;REN60052;REN60053;REN60054;REN60055;REN60056;REN60057;REN60058;REN60059;REN60060;REN60061;REN60062;REN60063;REN60064;REN60065;REN60066;REN60067;REN60068;REN60069;REN60070;REN60071;REN60072;REN60073;REN60074;REN60075;REN60076;REN60077;REN60078;REN60079;REN60080;REN60081;REN60082;REN60083;REN60084;REN60085;REN60086;REN60087;REN60088;REN60089;REN60090;REN60091;REN60092;REN60093;REN60094;REN60095;REN60096;REN60097;REN60098;REN60099;REN60100;REN60101;REN60102;REN60103;REN60104;REN60105;REN60106;REN60107;REN60108;REN60109;REN60110;REN60111;REN60112;REN60113;REN60114;REN60115;REN60116;REN60117;REN60118;REN60119;REN60120;REN60121;REN60122;REN60123;REN60124;REN60125;REN60126;REN60127;REN60128;REN60129;REN60130;REN60131;REN60132;REN60133;REN60134;REN60135;REN60136;REN60137;REN60138;REN60139;REN60140;REN60141;REN60142;REN60143;REN60144;REN60145;REN60146;REN60147;REN60148;REN60149;REN60150;REN60151;REN60152;REN60153;REN60154;REN60155;REN60156;REN60157;REN60158;REN60159;REN60160;REN60161;REN60162;REN60163;REN60164;REN60165;REN60166;REN60167;REN60168;REN60169;REN60170;REN60171;REN60172;stSG634828;stSG634829;stSG634830;stSG634831;stSG634832;stSG634833;stSG634834;stSG634835;stSG634836;stSG634837;stSG634838;stSG634839;stSG634840;stSG634841;stSG634842;stSG634843;stSG634844;stSG634845;stSG634846;stSG634848;stSG634849;stSG634850;stSG634851;stSG634852;stSG634854;stSG634855;stSG634856;stSG634857;stSG634859;stSG634860;stSG634861;stSG634862;stSG634863;stSG634864;stSG634865;stSG634866;stSG634868;stSG634870;stSG634871;stSG634872 FLJ40908;FLJ44184;hFKHLA OTTHUMP00000016374;OTTHUMP00000043412;OTTHUMP00000043536;OTTHUMP00000203950;fork head-related protein like A;fork head-related protein-like A;forkhead box protein P4;winged-helix repressor FOXP4 APPROVED protein-coding ENSG00000137166 20842 10600 608924 REVIEWED 1319403 FOXO3 forkhead box O3 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 6 6 q21 108987719 109112664 + 108881026 109005971 + 1580863;2302137;2301729;6480464;6484113;6907045;5143919 16322555;18336616;18061509 16133873;16100571;16061480;15798096;15688014;15674333;15662024;15616007;15551757;15509806;15489334;15324660;15322085;15207915;15084260;15084259;15047604;14981546;14976264;14962911;14702039;14574404;14563822;14551207;14527951;12960271;12881712;12477932;12351634;12107410;12027802;11896584;11884591;11435445;11154281;10783894;9852958;9479491;9345057;15265780;15708996;15905404;15604409;18781224;16751106;10102273;14734530;19533653;19424579;19415983;19355923;19324885;19321440;19285077;19276163;19276113;19244250;19211844;19196970;19188590;19160093;19151395;19050264;19010793;18981303;18978678;18977241;18824006;18772130;18765803;18757300;18757210;18756565;18692812;18687691;18685617;18678662;18572085;18524825;18487207;18458087;18393360;18391984;18385518;18363870;18360030;18344987;18312651;18311149;18239069;18204439;18195003;18193458;18178829;18063811;18055337;18037997;18032780;18032526;17959613;17940099;17900262;17888023;17726016;17711846;17601350;17558024;17522055;17496928;17452451;17389761;17234971;17190839;17077388;17044646;16979636;16888645;16709600;16690749;16687394;16571842;16373335;16809346;21813271;22310285;19911116;19913121;20110348;20628086;20631076;20677014;20625400;20729811;20966391;20671123;20849522;20881262;20884733;15604093;16964248;18593906;18787191;19380174;19457552;19473970;19494111;19564415;19592618;19608644;19636295;19751111;19793722;19807657;19917721;19933843;20018851;20018872;20040763;20169663;20215543;20219431;20306291;20371605;20371610;20371612;20379614;20562859;20656682;20808831;21092744;21216879;20956937;20978166;20868776;20874444;21621268;21532621;21777391;15126506;20934750;21138866;21436588;21775285;22893124;22590725;22922206;23071284;21203424;21209944;22588664;23418729;22820736;19799812;20190568;21304824;21621563;21715626;21393426;21458454;21510935;21690325;21705328;21685924;21604264;22223847;17289590;20733005;21447726;21708191;21910584;21933986;21841822;21900206;21911455;21690554;21926463;21613825;21725602;21732363;21915097;22015955;22515357;21793107;22394200;22474286;22474372;22107151;22128155;22833338;22971992;23278239;21452041;22349704;22748238;22761954;21965295;21860419;22209974;22411791;22430142;22451935;22531926;19322201;21336599;21713995;22139133;22159921;22459618;22848740;22743331;22582938;17979178;22094256;22892845;23378341;15123239;23295054;23509296;22718346;22714061;19940129;20862322;22761423;22815774;23250986;22552808 2309 B4DVZ6;O43524 AB072905;ABBA01026143;ABBA01026144;AF032886;AI554317;AJ001589;AJ001590;AK024103;AK092357;AK122861;AK301304;AK303933;AL096818;AL365509;AL391646;AMYH01016580;BC020227;BC021224;BC045800;BC068552;CA389775;CD101760;CH471051;CR749261;NM_001455;NM_201559 AAC39592;AAH20227;AAH21224;AAH68552;BAG62858;BAG64861;CAA04860;CAA04861;CAH18117;EAW48373;EAW48374;NP_001446;NP_963853;O43524 Hs.220950 1649807;1667854;1675531;1679187;1684856;1688370;1690163;1734512;2106477;2143987;2161167;2170085;2191075;5022322 A008N03;D11S2560;D17S1454E;D6S2431;FOXO3A_4088;MARC_14315-14316:1007670343:1;RH65484;RH67795;RH69580;RH75343;RH78823;RH79704;SGC33792;SHGC-36190 AF6q21;DKFZp781A0677;FKHRL1;FKHRL1P2;FOXO2;FOXO3A;MGC12739;MGC31925 OTTHUMP00000016944;forkhead box O3A;forkhead box protein O3;forkhead homolog (rhabdomyosarcoma) like 1;forkhead in rhabdomyosarcoma-like 1;forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1 APPROVED protein-coding ENSG00000118689 3821 04061 602681 REVIEWED 1318576 FOXP1 forkhead box P1 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 p14.1 71087426 71715830 - 71003865 71633140 - 1582564;1580863;6480464;7240710 16952980 18029348;19432679;19352412;19141121;18925695;18640093;18487996;18332236;18077790;18026833;17477366;17344859;17199743;16673020;16636337;16258506;16200457;15709173;15703784;15492844;15286807;15161711;15056695;14702039;14701752;12692134;12477932;11757404;11751404;11042152;8265594;22904134;22492998;22368156;19913121;20628086;20848658;18821565;19365123;19417623;19438754;19448593;19487025;19622517;19680146;19760589;19925052;20185820;20190138;20237496;20379614;20526340;20579129;21416545;20950788;21210727;18347093;21154235;21460242;21120478;16344560;19416867;21606195;7566098;21655267;21660567;21683954;21832150;21901488;21924763;21927029;21934230;21947824;21962897;21150319;21988832;23580662;22422806;19471022;21693764;22589738;19322201;22401769;23166209;23382691;22736042;22809882;22476979 27086 C9IYY1;C9J0F0;C9J5T4;E9PFD3;G5E965;H0Y882;Q548T7;Q8N2P0;Q8TEA2;Q9P0R1 AA380962;AB052767;ABBA01030923;ABBA01030924;ABBA01030925;ABBA01030926;ABBA01030927;ABBA01030928;ABBA01030929;ABBA01030930;ABBA01030931;ABBA01030932;ABBA01030933;ABBA01030934;ABBA01030935;ABBA01030936;AC097632;AC097634;AC103586;AC104442;AC104645;AC138058;AF146696;AF151049;AF250920;AF275309;AK026898;AK027264;AK074321;AK074569;AK092383;AK122710;AK297649;AMYH01013266;AMYH01013267;AMYH01013268;AMYH01013269;AMYH01013270;AMYH01013271;BC005055;BC054505;BC054815;BC068481;BC071893;BC080521;BC131720;BT006643;BX647682;CH471055;CQ834150;CQ834152;CR457164;DA518749;DA634017;GD144178;NG_028243;NM_001012505;NM_001244808;NM_001244810;NM_001244812;NM_001244813;NM_001244814;NM_001244815;NM_001244816;NM_032682 AAF36135;AAG47632;AAH05055;AAH54815;AAH71893;AAH80521;AAI31721;AAI52753;AAK69408;AAL56661;AAP35289;BAB55005;BAB85050;BAC03875;BAC11065;BAC53800;BAG53682;BAG60016;CAG33445;CAH05290;CAH05291;EAW65489;EAW65490;EAW65491;EAW65492;EAW65493;EAW65494;EAW65495;EAW65496;EAW65497;EAW65498;EAW65499;EAW65500;NP_001012523;NP_001231737;NP_001231739;NP_001231741;NP_001231742;NP_001231743;NP_001231744;NP_001231745;NP_116071;Q9H334 Hs.59368 1298116;1338249;1646354;1649256;1662518;1679185;1679601;1679798;1684096;1686284;1693822;1698156;1715731;1716387;1718987;1719701;1719813;1725197;1752735;1769853;1770842;1779242;1848579;1852099;1855295;2114438;2119024;2125401;2125715;2129222;2136848;2139069;2139473;2150065;2151564;2151825;2155414;2157351;2157984;2160073;2161050;2182179;2185532;2190621;5014063;5016478;5020274;5022200;5022578;5093486;5109663;5112179;7186108;7186280 A009P35;D15S1390;D1S1423;D3S1210;D3S1562;D3S3533;D3S3568;D3S4146;D3S4159;D3S659;D7S2067E;G32747;GDB:434012;L18426;L18441;REN159M20;RH102172;RH102611;RH119312;RH121374;RH123202;RH123539;RH123599;RH12371;RH124072;RH44896;RH46320;RH65612;RH80112;RH80573;RH80601;RH80682;RH94234;SGC30239;SGC34626;SHGC-106545;SHGC-152998;SHGC-17103;SHGC-37104;SHGC-56612;SHGC-77081;SHGC-77088;SHGC-77090;SHGC-77096;SHGC-77108;STS-H63744;STS-T93311;STS-W89007;WI-11225;WI-16704;WI-17022;WI-17713 12CC4;FLJ23741;HSPC215;MGC12942;MGC88572;MGC99551;QRF1;hFKH1B OTTHUMP00000213499;OTTHUMP00000213500;OTTHUMP00000213501;OTTHUMP00000213502;OTTHUMP00000213503;OTTHUMP00000213504;OTTHUMP00000213505;OTTHUMP00000213506;OTTHUMP00000213507;OTTHUMP00000213508;fork head-related protein like B;forkhead box protein P1;glutamine-rich factor 1 2315897 GLUCO187_H APPROVED protein-coding ENSG00000114861 3823 18518 605515;613670 REVIEWED 1348507 FOXP3 forkhead box P3 The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X p11.23 48994354 49008232 - 49106897 49121288 - 1598959;1580863;6480464;7240710 11137992 18354202;15674359;14671208;16652169;16873067;16920951;11483607;11138001;15466453;16903909;15652505;19569243;19513564;19470254;19464196;19439651;19424039;19408243;19383912;19364305;19363449;19358983;19328914;19283780;19276356;19273860;19264985;19264232;19258923;19255331;19255314;19242793;19237575;19203731;19201288;19199536;19192224;19178794;19168733;19155519;19150256;19141582;19136904;19132983;19125672;19124747;19120312;19108017;19104431;19096978;19089920;19085184;19039775;19034005;19022313;18973208;18951619;18941119;18924611;18836525;18829063;18825388;18818377;18802341;18794055;18769452;18690669;18681861;18667728;18665940;18641304;18641303;18628982;18606654;18579608;18544681;18533240;18510697;18510637;18496979;18434325;18430198;18424697;18413770;18413409;18412171;18395862;18368049;17309822;17299718;17289884;17286616;17262084;17230494;17216339;17183612;17175222;17161353;17154262;17033038;17028180;16996248;16956389;16955142;16901927;16881731;16825494;16818738;16764698;16741580;16728694;16652285;16645171;16617117;16596204;16583400;16574699;16557241;16551363;16517728;16493082;16410445;16368541;16344560;16339919;16339542;16322292;16278306;16211090;16091206;16003241;15972448;15952173;15790681;17311282;15772651;18331599;18324310;18317533;18304876;18294387;18286169;18279718;18270368;18270250;18261176;18246047;18240282;18231910;18178814;18173798;18171284;18162042;18156149;18155891;18092263;18089323;18047933;18034969;18024321;18008005;17975141;17970785;17954183;17932340;17921346;17916446;17878390;17851585;17804750;17713426;17712998;17712989;17706604;17703412;17694575;17666212;17644307;17641056;17615291;17612516;17589345;17574040;17570480;17565321;17526924;17508019;17463169;17418529;17414718;17414320;17393103;17389235;17378693;17377532;17360565;17329235;17327427;22569001;22000667;22118340;22161558;15620457;15489334;15374887;15246158;15220219;15172973;15100250;14997560;22000402;22321351;22157245;22444300;22446965;22506043;22431701;22949100;20404810;20412707;20412712;17903368;21114556;14597769;12750858;12477932;12296863;11768393;11137993;11120765;11076863;10677306;8889548;21268019;21255538;21255537;19900711;20701086;21278236;21481380;21489307;19902430;19917773;19940860;19941313;19952070;19953886;19956618;19957514;19996091;19996930;20005366;20015215;20028375;20032994;20075077;20087581;20100010;20109747;20147963;20150173;20237496;20306694;20398921;20427770;20477811;20503287;19900843;19779259;21490927;17712427;18394345;18844067;19111574;19189134;19373655;19392991;19394278;19419438;19536194;19542249;19545671;19564342;19568423;19577568;19596013;19604349;19614769;19628330;19639723;19641188;19641607;19648226;19648277;19648312;19650850;19651619;19661482;19664391;19666573;19667946;19673890;19679154;19714314;19738030;19739430;19751272;19752528;19787238;19798683;19800578;19808652;19845758;19849846;19856313;19875613;19880293;20930173;21091665;17445472;20427269;20476861;20554955;20462637;20403730;20416210;19674197;20668701;20920773;20209161;20224778;20688398;20142839;20537998;19958642;20498355;20498359;20487644;20522244;20599261;20654176;20676092;20677152;20726328;20943459;21034673;19696312;20709600;20880066;20933283;20942809;21078762;21085187;20301297;20306312;20677925;20886106;20952660;20633650;21499129;21558402;21570917;20842625;20967272;21178008;21209284;21357259;21458306;21381018;21381020;21400500;21496382;21266832;20729906;20450585;21317396;21489891;21376048;21472440;21285410;19727215;20229175;22977658;22836044;22884069;22541024;22332874;22391183;22988034;21437244;21423069;21447271;19549358;21436647;21533107;21617226;21642545;21855850;19703716;21670722;19481824;21607944;23124877;23161469;21654831;21693260;23418928;22155204;22419479;21107665;21746966;20346216;21654845;21891821;22058032;21708895;21719077;21696572;21772667;21818290;19453521;21059286;21674673;21726337;21865090;21926327;21974802;21763379;21832836;21904560;21912510;21741320;21802372;21876709;21934066;21955384;22992221;23178569;23521883;21949691;22152480;21352381;22079987;18931102;21743493;21791252;21926059;22032685;22077067;22093989;22166628;22214248;22312127;22435141;22239151;22308996;22529297;22547705;22678915;21249500;21696363;22093153;22372921;22446942;22447883;22515293;22696687;21070367;21618521;21684226;21719142;22007491;22079196;22124370;22143939;22210907;22264504;22287403;22310634;22341374;22672991;22813742;23202541;22491736;23341929;23161436;23395819;23169781;23483489;23244505;22986453;23158993;23396208;23266046;23355538;23417677;22749378;23201402;23260754;23297791;23098499;23211717;23223135;23182477;23543754;23644754;23450493;21085635;22389297;23228687;23320781;23125413;23129754;22425700;22809231;23039885;23359504 50943 B9UN80;Q9BZS1 ABBA01046142;ABBA01046143;AC232271;AF235097;AF277993;AJ005891;AK292052;AK299988;AMYH01022294;BC113401;BC113403;BC143785;BC143786;BQ184335;CH471224;DB342786;DQ010327;EF534714;EU855812;GN344065;JA738833;NG_007392;NM_001114377;NM_014009 AAG53607;AAI11854;AAI13402;AAI13404;AAI43786;AAI43787;AAY27088;ABQ15210;ACJ46653;ADR82986;BAF84741;BAG61809;CAA06748;CAY55968;CCF77062;EAW50671;EAW50672;EAW50673;NP_001107849;NP_054728;Q9BZS1 Hs.247700 1678085;2217340 FOXP3_3345;RH99318 AIID;DIETER;IPEX;JM2;MGC141961;MGC141963;PIDX;XPID FOXP3delta7;OTTHUMP00000025832;OTTHUMP00000025833;OTTHUMP00000226737;OTTHUMP00000246166;forkhead box protein P3;immune dysregulation, polyendocrinopathy, enteropathy, X-linked;immunodeficiency, polyendocrinopathy, enteropathy, X-linked;scurfin APPROVED protein-coding ENSG00000049768 6106 02242 222100;300292;304790 REVIEWED 1351861 FOXP2 forkhead box P2 This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 7 7 q31 113842288 114118328 + 113726365 114333827 + 1580863;6480464;7240710 16984964;16538183;15998549;15948071;15877281;15737702;15685218;15653268;15108192;15056695;14997560;14702039;14701752;14555953;12876151;12853948;12721956;12690205;12655497;12524352;12477932;12192408;12189486;12060812;11894222;11586359;11358962;10880297;17033973;9770548;9225980;16407075;11872605;19490899;19304338;19240061;19058789;19018235;18987363;18413354;18316164;17999362;17999357;17330859;17196932;2332125;21652119;22129783;19913121;20628086;20634891;20649982;20858950;20923434;20950786;22434823;16344560;18029348;19490887;19608635;19797137;19907493;20185820;20237496;20858596;21684252;21832174;21334420;23602712;21576028;21897444;22144704;22262880;21111790;22939624;23426656;22936669;23382691;22105961;22504457 93986 A8MTU2;A8MUV4;B7ZLK5;C9JQP8;E9PHJ5;F8WDL6;Q0PRL4;Q75MZ5;Q8N0W2;Q8N6B5;Q8N6B6 AACC02000001;ABBA01057826;ABBA01057827;ABBA01057828;ABBA01057829;ABBA01057830;ABBA01057831;AC003992;AC020606;AC073626;AC074000;AC092148;AC092606;AF086040;AF337817;AF454830;AF467252;AF467253;AF467254;AF467255;AF467256;AF467257;AF467258;AF467259;AF493430;AF515031;AF515032;AF515033;AF515034;AF515035;AF515036;AF515037;AF515038;AF515039;AF515040;AF515041;AF515042;AF515043;AF515044;AF515045;AF515046;AF515047;AF515048;AF515049;AF515050;AI369947;AK131266;AK296957;AMYH01017874;AMYH01017875;AMYH01017876;AY144615;BC018016;BC126104;BC143866;BC143867;CH236947;CH471070;CR749236;DA400243;DQ778626;NG_007491;NM_001172766;NM_001172767;NM_014491;NM_148898;NM_148899;NM_148900;NR_033766;NR_033767 AAI26105;AAI43867;AAI43868;AAL10762;AAM13672;AAM60761;AAM60762;AAM60763;AAM60764;AAM60765;AAM60766;AAM60767;AAM60768;AAM60769;AAN03389;AAN03390;AAN03391;AAN03392;AAN03393;AAN03394;AAN03395;AAN03396;AAN03397;AAN03398;AAN03399;AAN03400;AAN03401;AAN03402;AAN03403;AAN03404;AAN03405;AAN03406;AAN03407;AAN03408;AAN60016;AAS07399;AAS07400;AAS07502;ABG77460;ADR83376;BAD18444;BAG59501;CAH18092;EAL24367;EAL24368;EAL24369;EAW83479;EAW83480;EAW83481;EAW83482;EAW83483;EAW83484;EAW83485;EAW83486;NP_001166237;NP_001166238;NP_055306;NP_683696;NP_683697;NP_683698;O15409 Hs.282787 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;REN103325;REN103326;REN103327;REN103328;REN103329;REN103330;REN103331;REN103332;REN103333;REN103334;REN103335;REN103336;REN103337;REN103338;REN103339;REN103340;REN103341;REN103342;REN103343;REN103344;REN103345;REN103346;REN103347;REN103348;REN103349;REN103350;REN103351;REN103352;REN103353;REN103354;REN103355;REN103356;REN103357;REN103358;REN103359;REN103360;REN103361;REN103362;REN103363;REN103364;REN103365;REN103366;REN103367;REN103368;REN103369;REN103370;REN103371;REN103372;REN103373;REN103374;REN103375;REN103376;REN103377;REN103378;REN103379;REN103380;REN103381;REN103382;REN103383;REN103384;REN103385;REN103386;REN103387;REN103388;REN103389;REN103390;REN103391;REN103392;REN103393;REN103394;REN103395;REN103396;REN103397;REN103398;REN103399;REN103400;REN103401;REN103402;REN103403;REN103404;REN103405;REN103406;REN103407;REN103408;REN103409;REN103410;REN103411;REN103412;REN103413;REN103414;REN103415;REN103416;REN103417;REN103418;REN103419;REN103420;REN103421;REN103422;REN103423;REN103424;REN103425;REN103426;REN103427;REN103428;REN103429;REN103430;REN103431;REN103432;REN103433;REN103434;REN103435;REN103436;RH118613;RH119734;RH121856;RH26932;RH66678;RH80371;SGC33824;SHGC-108054;SHGC-78713;SHGC-82073;SHGC-82682;SHGC-82867;stSG611298;stSG611299;stSG611300;stSG611301;stSG611302;stSG611303;stSG611304;stSG611306;stSG611307;stSG611308;stSG611309;stSG611310;stSG611311;stSG611312;stSG611313;stSG611314;stSG611318;stSG611319;stSG611320;stSG611321;stSG611322;stSG611323;stSG611324;stSG611325;stSG611326;stSG611327;stSG611329;stSG611331;stSG611332;stSG611334;stSG611335;stSG611336;stSG611337;stSG611338;stSG611340;stSG611343;stSG611344;stSG611348;stSG611349;stSG611350;stSG611351;stSG611352;stSG611354;stSG611355;stSG611356;stSG611357;stSG611358;stSG611362;stSG611363;stSG611368;stSG611369;stSG611370;stSG611371;stSG611372;stSG611373;stSG611374;stSG611375;stSG611376;stSG611377;stSG611378;stSG611379;stSG611380;stSG611381;stSG611382;stSG611383;stSG611384;stSG611385;stSG611386;stSG611387;stSG611388;stSG611389;stSG611390;stSG611391;stSG611392;stSG611393;stSG611394;stSG611395;stSG611396;stSG611397;stSG611398;stSG611399;stSG611400;stSG611401;stSG611402;stSG611403;stSG611404;stSG611405;stSG611406;stSG611407;stSG611408;stSG611409;stSG611410;stSG611411;stSG611413;stSG611414;stSG611415;stSG611416;stSG611418;stSG611419;stSG611420;stSG611421;stSG611422;stSG611423;stSG611424;stSG611425;stSG611426;stSG611427;stSG611428;stSG611429;stSG611430;stSG611431;stSG611432;stSG611433;stSG611434;stSG611435;stSG611436;stSG611437;stSG611438;stSG611439;stSG611440;stSG611442;stSG611443;stSG611444;stSG611445;stSG611446;stSG611447;stSG611448;stSG611449;stSG611450;stSG611451;stSG611452;stSG611453;stSG611454;stSG611455;stSG611456;stSG611457;stSG611458;stSG611459;stSG611460;stSG611461;stSG611462;stSG611463;stSG611464;stSG611465;stSG611466;stSG611467;stSG611469;stSG611470;stSG611471;stSG611472;stSG611473;stSG611474;stSG611475;stSG611476;stSG611477;stSG611478;stSG611480;stSG611482;stSG611483;stSG611484;stSG611485;stSG611486;stSG611487;stSG611488;stSG611489;stSG611490;stSG611491;stSG611492;stSG611493;stSG611494;stSG611495;stSG611496;stSG611497;stSG611498;stSG611499;stSG611500;stSG611502;stSG611503;stSG611504;stSG611505;stSG611506;stSG611507;stSG611508;stSG611509;stSG611510;stSG611511;stSG611512;stSG611513;stSG611514;stSG611515;stSG611516;stSG611517;stSG611518;stSG611519;stSG611520;stSG611521;stSG611522 CAGH44;DKFZp686H1726;SPCH1;TNRC10 CAG repeat protein 44;OTTHUMP00000024749;OTTHUMP00000067771;OTTHUMP00000067772;OTTHUMP00000196932;OTTHUMP00000196934;OTTHUMP00000196935;OTTHUMP00000198800;OTTHUMP00000214601;forkhead box protein P2;forkhead/winged-helix transcription factor;trinucleotide repeat containing 10;trinucleotide repeat-containing gene 10 protein APPROVED protein-coding ENSG00000128573 13875 05611 602081;605317 REVIEWED 732997 FOXQ1 forkhead box Q1 FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009] 6 6 6 p25 2541803 2544121 + 1257675 1259993 + 1312675 1314993 + 1580863;6480464 11309849;19533653;15489334;12477932;12011061;11747606;22773346;8889548;21346143;21285253;20145154;20686608;22948034;22126837;20467438;23383267 94234 Q9C009 ABBA01048654;ABBA01048655;AF153341;AF225950;AL499606;AMYH01016015;AMYH01016016;BC053850;BM980542;BU566731;CH471087;NM_033260 AAF75586;AAH53850;AAK00639;EAW55070;NP_150285;Q9C009 Hs.591352 HFH1 HFH-1;HNF-3/forkhead-like protein 1;OTTHUMP00000017774;forkhead box protein Q1;hepatocyte nuclear factor 3 forkhead homolog 1;hnf-3/forkhead homolog-1;winged helix/forkhead transcription factor APPROVED protein-coding ENSG00000164379 20951 17015 612788 VALIDATED 1320240 FOXR1 forkhead box R1 This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116001159 116001447 + 118347627 118357205 + 118842417 118851995 + 6480464 15492844;15489334;15067358;12477932;21860421 283150 H0YCU3;Q08AS8;Q6PIV2 AB094092;ABBA01039684;AMYH01004079;AP003392;AP004609;BC028191;BC038969;BC125040;EF444979;NM_181721 AAH28191;AAH38969;AAI25041;ACA05993;BAC76046;NP_859072;Q6PIV2 Hs.116679 1736971 D11S2682 DLNB13;FOXN5;MGC149486 OTTHUMP00000232690;forkhead box R1 variant 1;forkhead box protein N5;forkhead box protein R1 APPROVED protein-coding ENSG00000176302 29980 13551 REVIEWED 1352257 FOXR2 forkhead box R2 X X X p11.21 59489526 59492314 + 55666558 55668483 + 55649833 55652621 + 15489334;15202027;15202009;12477932 139628 Q6PJQ5 ABBA01069511;AL159987;AMYH01022450;BC012934;NG_021325;NM_198451 AAH12934;ABZ92413;NP_940853;Q6PJQ5 Hs.364260 FOXN6;MGC21658 OTTHUMP00000217953;forkhead box protein N6;forkhead box protein R2 protein-coding ENSG00000189299 30469 13552 VALIDATED 1602317 FOXRED2 FAD-dependent oxidoreductase domain containing 2 22 22 22 q12.3 20685379 20705285 - 35213179 35233094 - 36883233 36903148 - 6480464 16344560;15461802;14702039;12878157;12477932;8125298;19706418;21906983;22268729;22797925 80020 A8MUR8;B0QYA2;Q8IWF2 ABBA01055447;AK025714;AK026975;AK091053;AK225347;AK315555;AL022313;AMYH01012752;AU279706;BC015726;BC027716;BC040351;BG054783;CH471095;CR456444;DA409026;NM_001102371;NM_024955 AAH15726;AAH27716;AAH40351;BAB15227;BAB15610;BAG37931;BAG52270;CAG30330;EAW60105;EAW60106;EAW60107;EAW60108;NP_001095841;NP_079231;Q8IWF2 Hs.387601 1721491;1760989;2134495;2139777;2177093;5015961;5016478 D15S1477;D22S648;G59599;GDB:434012;SGC32355;SHGC-144936;WI-13725 ERFAD;FLJ23322;FLJ33734 FAD-dependent oxidoreductase domain-containing protein 2;OTTHUMP00000028734;OTTHUMP00000042125;OTTHUMP00000197492;endoplasmic reticulum flavoprotein associated with degradation protein-coding ENSG00000100350 26264 08666 613777 VALIDATED 5491090 FPGT-TNNI3K FPGT-TNNI3K readthrough This locus represents naturally occurring read-through transcription from the neighboring fucose-1-phosphate guanylyltransferase (FPGT) and TNNI3 interacting kinase (TNNI3K) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. [provided by RefSeq, Dec 2010] 1 p31.1 74663896 75010116 + 20935630;12477932;20967262;23449627 100526835 E9PKE1;Q59H18 AB208941;ABBA01074425;ABBA01074426;ABBA01074427;ABBA01074428;ABBA01074429;AC093158;AC098692;AC105271;AC119672;AMYH01000711;AMYH01000712;BC032865;BQ447828;BX470253;BX640903;NG_032939;NM_001112808;NM_001199327 AAH32865;BAD92178;CAE45949;NP_001106279;NP_001186256 Hs.480085 1698188 RH102630 DKFZp686C06106;MGC33828 FPGT-TNNI3K fusion protein;OTTHUMP00000011169;OTTHUMP00000011185;OTTHUMP00000232461;OTTHUMP00000245821;OTTHUMP00000245822 protein-coding ENSG00000259030 42952 VALIDATED 1604612 FOXRED1 FAD-dependent oxidoreductase domain containing 1 This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 11 11 11 q24.2 123304079 123313220 + 125644265 125653237 + 126138935 126148027 + 6480464;7240710 15231747;11256614;16381901;15489336;15489334;14702039;12477932;11230166;11076863;10497265;19913121;20628086;20877624;20818383;16344560;16582907;20858599;21963094;21139048;21890473;20301352;20301382;20301403 55572 B4DXM1;E9PNK9;E9PP78;Q96CU9 ABBA01031225;ABBA01031226;AF103801;AF447877;AK023987;AK126067;AK295267;AK295428;AK298010;AK298807;AK302039;AL136923;AMYH01004111;AP001318;BC002910;BC013902;CH471065;DA056004;NG_028029;NM_017547;NR_037647;NR_037648 AAF02421;AAH02910;AAH13902;AAQ04652;BAG51246;BAG58254;BAG58371;BAG60314;BAG60942;BAG63433;CAB66857;CAL38585;EAW67681;EAW67682;EAW67683;NP_060017;Q96CU9 Hs.317190 1677708;2117948;2167344;2177209;5015961;5022200;5022588;5022651;5092960;5126809 A009D04;D11S2921;D11S4721;D15S1477;D5S1597E;G32436;L18426;MARC_7607-7608:996688009:1;RH79036;RH80716 FP634;H17 FAD-dependent oxidoreductase domain-containing protein 1;OTTHUMP00000231108;OTTHUMP00000231111 APPROVED protein-coding ENSG00000110074 26927 13620 252010;256000;613622 REVIEWED 1321722 FOXS1 forkhead box S1 The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 27188450 27189767 - 29895764 29897081 - 30432103 30433420 - 1580863;6480464 12477932;9325056;17062144;16189514;15489334;11780052;20211142;21832049 2307 O43638 ABBA01019290;AF042831;AL160175;AMYH01011831;BC013408;BT009768;CH471077;NM_004118 AAC15420;AAH13408;AAP88770;ABM87104;ABW03842;EAW76413;NP_004109;O43638 Hs.516971 FKHL18;FREAC10;MGC4544 FREAC-10;OTTHUMP00000030540;forkhead box protein S1;forkhead-like 18 protein;forkhead-related activator 10;forkhead-related transcription factor 10;forkhead-related transcription factor FREAC-10 APPROVED protein-coding ENSG00000179772 3735 04246 602939 REVIEWED 1347403 FRA10A fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) 2431 3829 1346571 FPGS folylpolyglutamate synthase This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. While several transcript variants may exist for this gene, the full-length natures of only two have been biologically validated to date. These two variants encode distinct isoforms. [provided by RefSeq, Jul 2008] 9 9 q34.1 129604975 129616377 + 130565154 130576556 + 1580863;6480464;6907045;7242559 16859665 16169100;7721888;1409616;19161160;19131550;19093297;19016697;18842806;18830263;18672898;18381794;17891500;17875718;17286537;17119116;16707018;16122883;14702039;14676127;12663051;12477932;11309345;10964921;10777604;9312158;8662720;8521387;6934068;3828320;22698741;20651609;20877624;19636555;19841321;20037791;20453000;22895141;21093159;21380490;21418912;21890473;21906983;21987572;22018726;22809608;22505724 2356 Q05932;Q5JU20;Q5JU21;Q5JU23 ABBA01043845;ABBA01043846;AK056920;AK295309;AK315523;AL162586;AMYH01021734;AY007209;AY007210;AY007211;AY007212;BC007121;BC009901;BC064393;BE302497;BF345926;BT006639;CH471090;M98045;NG_023245;NM_001018078;NM_004957;U14939 AAA35852;AAA85815;AAH64393;AAL08404;AAL08405;AAL08406;AAL08407;AAP35285;BAG37904;BAG51826;BAH12029;EAW87698;EAW87699;EAW87700;EAW87701;NP_001018088;NP_004948;Q05932 Hs.335084 1655821;1776869;2157030 D9S2052;STS-M98045;STS-U40863 OTTHUMP00000022201;OTTHUMP00000022202;OTTHUMP00000022203;OTTHUMP00000022204;folylpoly-gamma-glutamate synthetase;folylpolyglutamate synthase, mitochondrial;folylpolyglutamate synthetase;tetrahydrofolate synthase;tetrahydrofolylpolyglutamate synthase APPROVED protein-coding ENSG00000136877 3824 00642 136510 REVIEWED 1349447 FRA10B fragile site, BrdU type, rare, fra(10)(q25.2) 9660961 2432 AF053508 3830 1352804 FRA10C fragile site, BrdU type, common, fra(10)(q21) 2433 3831 1342818 FRA10D fragile site, aphidicolin type, common, fra(10)(q22.1) 2434 3832 1350799 FRA10E fragile site, aphidicolin type, common, fra(10)(q25.2) 2435 3833 1354211 FRA10F fragile site, aphidicolin type, common, fra(10)(q26.1) 2436 3834 1344015 FRA10G fragile site, aphidicolin type, common, fra(10)(q11.2) 2437 3835 1347159 FRA11A fragile site, folic acid type, rare, fra(11)(q13.3) 2438 3836 1344640 FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) 2439 3837 1343180 FRA11C fragile site, aphidicolin type, common, fra(11)(p15.1) 2440 3838 1352566 FRA11D fragile site, aphidicolin type, common, fra(11)(p14.2) 2441 3839 1351163 FRA11E fragile site, aphidicolin type, common, fra(11)(p13) 2442 3840 1345590 FRA11F fragile site, aphidicolin type, common, fra(11)(q14.2) 2443 3841 1353526 FRA11H fragile site, aphidicolin type, common, fra(11)(q13) 2446 3843 1344099 FRA11G fragile site, aphidicolin type, common, fra(11)(q23.3) 2445 3842 1352857 FRA11I fragile site, distamycin A type, rare, fra(11)(p15.1) 2447 3844 1352275 FRA12A fragile site, folic acid type, rare, fra(12)(q13.1) 7240710 2448 3845 136630 1349589 FRA12B fragile site, aphidicolin type, common, fra(12)(q21.3) 2449 3846 1345607 FRA12C fragile site, BrdU type, rare, fra(12)(q24.2) 2450 3847 1342894 FRA12D fragile site, folic acid type, rare, fra(12)(q24.13) 2451 3848 1351364 FRA12E fragile site, aphidicolin type, common, fra(12)(q24) 2452 3849 1342569 FPGT fucose-1-phosphate guanylyltransferase L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010] 1 1 1 p31.1 72909489 72918673 + 74436514 74445708 + 74663896 74674148 + 1302737;1580863;6480464;6907045 9804772 16582493;16185085;16086588;15489334;12477932;8125298;22939629;16344560 8790 B4DH62;E9PK10;E9PMK0;E9PMM4;H0YDF0;O14772 ABBA01074428;ABBA01074429;AC098692;AF017445;AF017446;AI025848;AK223254;AK294948;AK299468;AK304490;AMYH01000711;BC020720;BC032308;CH471059;CR743704;DB066016;NG_032939;NM_001199328;NM_001199329;NM_003838 AAC73005;AAC82511;AAH20720;AAH32308;BAD96974;BAG58023;BAG61434;BAG65299;EAX06417;NP_001186257;NP_001186258;NP_003829;O14772 Hs.480085 1643762;1647163;1668748;1711004;1735972;2109319;2174287 A005C44;D1S1962E;D1S3377;FPGT_8857;RH12316;SGC38103;SHGC-84880 GFPP GDP-L-fucose diphosphorylase;GDP-L-fucose pyrophosphorylase;GDP-beta-L-fucose pyrophosphorylase;OTTHUMP00000011171;OTTHUMP00000232454;OTTHUMP00000232456;OTTHUMP00000232458;OTTHUMP00000232459;fucose-1-phosphate guanyltransferase;fucose-1-phosphate guanylyltransferase APPROVED protein-coding ENSG00000254685 3825 06790 603609 REVIEWED 1352621 FRA13A fragile site, aphidicolin type, common, fra(13)(q13.2) 2453 3850 1343327 FRA13B fragile site, BrdU type, common, fra(13)(q21) 2454 3851 1351244 FRA13D fragile site, aphidicolin type, common, fra(13)(q32) 2456 3853 1345482 FRA13C fragile site, aphidicolin type, common, fra(13)(q21.2) 2455 3852 1352797 FRA14B fragile site, aphidicolin type, common, fra(14)(q23) 2457 3854 1342515 FRA14C fragile site, aphidicolin type, common, fra(14)(q24.1) 2458 3855 1349323 FRA15A fragile site, aphidicolin type, common, fra(15)(q22) 2459 3856 1350433 FRA16A fragile site, folic acid type, rare, fra(16)(p13.11) 2460 3857 1353014 FRA16B fragile site, distamycin A type, rare, fra(16)(q22.1) 2461 3858 136580 1345282 FRA16C fragile site, aphidicolin type, common, fra(16)(q22.1) 2462 3859 1348627 FRA17A fragile site, distamycin A type, rare, fra(17)(p12) 2465 3862 136660 1351731 FRA16E fragile site, distamycin A type, rare, fra(16)(p12.1) 2464 3861 1347785 FRA16D fragile site, aphidicolin type, common, fra(16)(q23.2) 2463 3860 1345131 FRA17B fragile site, aphidicolin type, common, fra(17)(q23.1) 2466 3863 1348425 FRA18B fragile site, aphidicolin type, common, fra(18)(q21.3) 2468 3865 1342689 FRA18A fragile site, aphidicolin type, common, fra(18)(q12.2) 2467 3864 1345549 FRA19A fragile site, 5-azacytidine type, common, fra(19)(q13) 4077049;2579891 2469 3866 1348856 FRA18C fragile site, folic acid type, rare, fra(18)(q22.1) 116710 16929 1349781 FRA1A fragile site, aphidicolin type, common, fra(1)(p36) 2360 3868 1349098 FRA19B fragile site, folic acid type, rare, fra(19)(p13) 2470 3867 1344738 FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) 2362 3870 1348098 FRA1D fragile site, aphidicolin type, common, fra(1)(p22) 2363 3871 1351376 FRA1E fragile site, aphidicolin type, common, fra(1)(p21.2) 2364 3872 1342830 FRA1F fragile site, aphidicolin type, common, fra(1)(q21) 2365 3873 1354217 FRA1G fragile site, aphidicolin type, common, fra(1)(q25.1) 2366 3874 1345516 FRA1H fragile site, 5-azacytidine type, common, fra(1)(q42) 9763679 2367 3875 1348788 FRA1I fragile site, aphidicolin type, common, fra(1)(q44) 2368 3876 1352507 FRA1J fragile site, 5-azacytidine type, common, fra(1)(q12) 2369 3877 1353010 FRA1B fragile site, aphidicolin type, common, fra(1)(p32) 2361 3869 1346848 FRA1L fragile site, aphidicolin type, common, fra(1)(p31) 2371 3879 1343534 FRA1K fragile site, aphidicolin type, common, fra(1)(q31) 2370 3878 1350410 FRA1M fragile site, folic acid type, rare, fra(1)(p21.3) 1865478 2372 3880 1346089 FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) 2471 3881 136590 1343465 FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) 2472 3882 1347434 FRA22A fragile site, folic acid type, rare, fra(22)(q13) 2473 3883 1345115 FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) 2474 3884 1350381 FRA2B fragile site, folic acid type, rare, fra(2)(q13) 2374 3886 1347807 FRA2C fragile site, aphidicolin type, common, fra(2)(p24.2) 2375 3887 1345203 FRA2D fragile site, aphidicolin type, common, fra(2)(p16.2) 2376 3888 1351711 FRA2E fragile site, aphidicolin type, common, fra(2)(p13) 2377 3889 1353659 FRA2A fragile site, folic acid type, rare, fra(2)(q11.2) 2373 3885 136610 1346489 FRA2G fragile site, aphidicolin type, common, fra(2)(q31) 2379 3891 1343904 FRA2H fragile site, aphidicolin type, common, fra(2)(q32.1) 2380 3892 1342749 FRA2I fragile site, aphidicolin type, common, fra(2)(q33) 2381 3893 1352028 FRA2J fragile site, aphidicolin type, common, fra(2)(q37.3) 2382 3894 1349565 FRA2K fragile site, folic acid type, rare, fra(2)(q22.3) 2383 3895 1346932 FRA3B fragile site, aphidicolin type, common, fra(3)(p14.2) 3864602 3897 1344463 FRA3C fragile site, aphidicolin type, common, fra(3)(q27) 2386 3898 1349009 FRA2F fragile site, aphidicolin type, common, fra(2)(q21.3) 2378 3890 1346264 FRA3D fragile site, aphidicolin type, common, fra(3)(q25) 2387 3899 1345134 FRA3A fragile site, aphidicolin type, common, fra(3)(p24.2) 2384 3896 1344517 FRA4A fragile site, aphidicolin type, common, fra(4)(p16.1) 2388 3900 1346962 FRA4B fragile site, BrdU type, common, fra(4)(q12) 2389 3901 1349862 FRA4C fragile site, aphidicolin type, common, fra(4)(q31.1) 2390 3902 1352430 FRA4D fragile site, aphidicolin type, common, fra(4)(p15) 2391 3903 1350839 FRA4E fragile site, unclassified, common, fra(4)(q27) 2392 3904 1349065 FRA5A fragile site, BrdU type, common, fra(5)(p13) 2393 3905 1351685 FRA5B fragile site, BrdU type, common, fra(5)(q15) 2394 3906 1347830 FRA5C fragile site, aphidicolin type, common, fra(5)(q31.1) 2396 3907 1348925 FRA5D fragile site, aphidicolin type, common, fra(5)(q15) 2397 3908 1353291 FRA5E fragile site, aphidicolin type, common, fra(5)(p14) 2398 3909 1351475 FRA5G fragile site, folic acid type, rare, fra(5)(q35) 2213847 2400 3911 1350567 FRA6A fragile site, folic acid type, rare, fra(6)(p23) 2401 3912 1345413 FRA5F fragile site, aphidicolin type, common, fra(5)(q21) 2399 3910 1347907 FRA6B fragile site, aphidicolin type, common, fra(6)(p25.1) 2402 3913 1346301 FRA6C fragile site, aphidicolin type, common, fra(6)(p22.2) 2403 3914 1343775 FRA6D fragile site, BrdU type, common, fra(6)(q13) 2404 3915 1348809 FRA6E fragile site, aphidicolin type, common, fra(6)(q26) 2405 3916 1346456 FRA6F fragile site, aphidicolin type, common, fra(6)(q21) 2406 3917 1345202 FRA6G fragile site, aphidicolin type, common, fra(6)(q15) 2407 3918 1352389 FRA7A fragile site, folic acid type, rare, fra(7)(p11.2) 2408 3919 1342909 FRA7B fragile site, aphidicolin type, common, fra(7)(p22) 2409 3920 1351450 FRA7C fragile site, aphidicolin type, common, fra(7)(p14.2) 2410 3921 1354027 FRA7D fragile site, aphidicolin type, common, fra(7)(p13) 2411 3922 1344601 FRA7E fragile site, aphidicolin type, common, fra(7)(q21.2) 2412 3923 1322039 FPR1 formyl peptide receptor 1 This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010] 19 19 q13.4 56940838 56946962 - 52249023 52255150 - 1580863;6480464;6907045 15195697;12218158;10857861;10823817;10889468;10882119;10861041;10820279;2161213;19254133;19167353;19037090;18952127;18253729;18060741;18056353;17927965;17692291;17452560;17442310;17267694;17234990;16953235;16675446;16530386;16253958;16114510;16038804;16002663;15928303;15866865;15661400;15625007;15489334;15258259;15187149;15057824;12902510;12595898;12565836;12477932;12424254;12410796;11860029;11559706;10753626;10514456;8663057;8228254;8224916;7947984;7945424;7836371;6129903;2176894;1712023;1612600;1445895;1373134;1322204;2541200;11023526;21254404;2834384;18577758;19414538;19530962;19722801;19843937;19892918;20019777;20056178;20197768;20237496;20930115;21216225;23012360;21372136;21921027;22005393;22174875;21144844;22094028;22768936;23185575;23373827 2357 M0QZT0;M0R315;P21462 ABBA01068263;ABBA01068264;AC018755;AK314935;AMYH01009953;AY301273;BC005315;BQ016000;BT007429;CB993626;CH471135;L10820;M37128;M60626;M60627;NG_023426;NM_001193306;NM_002029;S49810 AAA16863;AAA35846;AAA35847;AAA36362;AAD14906;AAF87842;AAH05315;AAP36097;AAP58403;BAG37441;EAW72040;EAW72041;EAW72042;NP_001180235;NP_002020;P21462 Hs.753 1671629;1673479;2147574 D19S1083;RH17955;RH69009 FMLP;FPR N-formyl peptide receptor;N-formylpeptide chemoattractant receptor;fMLP receptor;fMet-Leu-Phe receptor APPROVED protein-coding 3826 00646 136537 REVIEWED 1347091 FRA7G fragile site, aphidicolin type, common, fra(7)(q31.2) 2414 3925 1352826 FRA7H fragile site, aphidicolin type, common, fra(7)(q32.3) 2415 3926 1342938 FRA7I fragile site, aphidicolin type, common, fra(7)(q36) 2416 3927 1345597 FRA7J fragile site, aphidicolin type, common, fra(7)(q11) 2417 3928 1350581 FRA8A fragile site, folic acid type, rare, fra(8)(q22.3) 2418 3929 1347164 FRA8B fragile site, aphidicolin type, common, fra(8)(q22.1) 2419 3930 1346653 FRA8C fragile site, aphidicolin type, common, fra(8)(q24.1) 2421 3931 1345060 FRA8F fragile site, unclassified, rare, fra(8)(q13) 2424 3934 1347732 FRA8E fragile site, distamycin A type, rare, fra(8)(q24.1) 2423 3933 1345075 FRA9A fragile site, folic acid type, rare, fra(9)(p21) 2425 3935 1347078 FRA7F fragile site, aphidicolin type, common, fra(7)(q22) 2413 3924 1354504 FRA9B fragile site, folic acid type, rare, fra(9)(q32) 2426 3936 1347894 FRA9D fragile site, aphidicolin type, common, fra(9)(q22.1) 2428 3938 1350706 FRA9C fragile site, BrdU type, common, fra(9)(p21) 2427 3937 1343410 FRA8D fragile site, aphidicolin type, common, fra(8)(q24.3) 2422 3932 1343341 FRA9E fragile site, aphidicolin type, common, fra(9)(q32) 2429 3939 1352755 FRA9F fragile site, 5-azacytidine type, common, fra(9)(q12) 2430 3940 1347676 FRAXB fragile site, aphidicolin type, common, fra(X)(p22.31) 2478 3946 1351085 FRAXA fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation) 7240710 2477 3945 300623;300624;311360 1344516 FRAXC fragile site, aphidicolin type, common, fra(X)(q22.1) 2479 3947 1353126 FRAXD fragile site, aphidicolin type, common, fra(X)(q27.2) 2480 3948 1347191 FRAXE fragile site, folic acid type, rare, fra(X)(q28) 7240710 1605195 2481 3949 309548 1343853 FRAXF fragile site, folic acid type, rare, fra(X)(q28) 8499907;7874164 2482 L35600 3950 1345286 FRCL1 frc, fringe-like 1 (Drosophila) 387073 21116 1351561 FRDA2 Friedreich ataxia 2 7240710 10735274;11523563 2420 1338930 D9S43 3952 1316624 FPR2 formyl peptide receptor 2 19 19 q13.3-q13.4 56956265 56965591 + 52264453 52273779 + 1580863;6480464;6907045 17727628;9054386;1374236;19282028;18768891;18652801;18583575;18174366;17918787;17692291;17687636;17651798;17460114;17403678;17234990;17184966;17015746;16973129;16493055;15829413;15809093;15670157;15625007;15489334;15465011;15224191;15188355;15187149;15057824;14662886;12902510;12477932;12456400;12410796;12393391;12377951;11063592;11015447;10748237;9547339;9151906;8198572;7505609;1612600;1511907;1373134;10438703;10872839;10964542;22610094;22706076;22734147;20542250;16754659;20177146;20642210;19381066;19553323;19751275;19796867;19811292;19843937;20237496;8006586;20930115;21183593;21299846;21398608;23643932;21543323;22005393;21465531;21499310;22131270;22246625;22377711;23583448;23386607;23500463;22768166;23219934 2358 AAB23104;M0QXD3;M0QZ89;M0R222;P25090 ABBA01068263;AC018755;AF054013;AK290557;AMYH01009954;AY225226;BC029125;BC071722;BM922150;CH471135;D10922;M76672;M84562;M88107;NM_001005738;NM_001462;U81501;X63819 AAA52473;AAA58481;AAA60070;AAB23104;AAB51133;AAC13684;AAF87844;AAH29125;AAH71722;AAO67711;ABM83031;ABM86225;BAA01720;BAF83246;CAA45319;EAW72043;EAW72044;NP_001005738;NP_001453;P25090 Hs.99855 1662646;1673311;1795866;2147958 D19S831;FPRL1_657;RH11725;STS-R79948 ALXR;FMLP-R-II;FMLPX;FPR2A;FPRH1;FPRH2;FPRL1;HM63;LXA4R FMLP-R-I;FMLP-related receptor I;LXA4 receptor;N-formyl peptide receptor 2;RFP;formyl peptide receptor-like 1;lipoxin A4 receptor (formyl peptide receptor related) protein-coding ENSG00000171049 3827 00647 136538 VALIDATED 1351313 FRDAP Friedreich ataxia pseudogene 14 14 14 q24.3 58563991 58564875 - 77595596 77596480 - 78525843 78526727 - 122942 ABBA01030639;AC007955;AL049832;AMYH01005887;NG_002485 pseudo 20012 INFERRED 1350649 FPR3 formyl peptide receptor 3 19 19 q13.3-q13.4 56990223 57021146 + 52298411 52329334 + 1580863;6480464;6907045 16002663;15187149;8198572;19342677;17577578;15489334;15465011;14702039;12477932;12410796;12223529;11285256;1612600;18577758;19843937;20237496;21709160;20972812;21543323;21717223 2359 P25089;Q6L5J4 ABBA01068262;ABBA01068263;AC005946;AC018755;AK123030;AK292541;AMYH01009954;AY262690;BC059388;BC069070;BC069593;BC069812;CB996360;CH471135;L14061;M76673;NM_002030 AAA52474;AAA58482;AAC72102;AAH59388;AAH69070;AAH69593;AAH69812;AAP20654;BAF85230;EAW72045;NP_002021;P25089 Hs.445466 1667722;1676128;1677883;1792966;1792968;1792970;1792972;2135467;5492435 PMC17875P1;PMC17875P2;PMC17875P3;PMC17875P4;RH71357;RH79920;RH99009;SHGC-32473;UniSTS:481014 FML2_HUMAN;FMLPY;FPRH1;FPRH2;FPRL2;RMLP-R-I FMLP-R-II;FMLP-related receptor II;N-formyl peptide receptor 3;formyl peptide receptor-like 2 protein-coding ENSG00000187474 3828 00648 136539 VALIDATED 6481285 FREM2-AS1 FREM2 antisense RNA 1 100874073 AL354819 APPROVED miscrna 39964 1343703 FREM3 FRAS1 related extracellular matrix 3 4 4 4 q31.21 141828573 141951867 - 144717905 144841278 - 144498560 144621828 - 6480464 15815621;15345741;22337703 166752 P0C091 ABBA01070003;ABBA01070004;AC139713;AI184955;AMYH01014583;AW953229;BE223071;DN831271;DR007885;DR731220;JA738645;NM_001168235;R44783 CCF76975;NP_001161707;P0C091 Hs.252714 2171181 SHGC-59692 FRAS1-related extracellular matrix protein 3;OTTHUMP00000220417 protein-coding ENSG00000183090 25172 608946 VALIDATED 1319845 FRA10AC1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010] 10 10 10 q23.33 89168766 89203452 - 95418319 95452319 - 95427640 95462329 - 6480464 16169070;15489334;15203205;15164054;14702039;12477932;11483580;15146197;16385451;17207965 118924 Q8N293 ABBA01021866;AJ431721;AJ431722;AJ431723;AJ431724;AJ431725;AK090955;AK308861;AK309016;AL133616;AL157396;AMYH01002961;BC018007;BM272089;BX648699;CH471066;CN298116;NG_016832;NM_145246 AAH18007;ADQ32087;BAC03556;CAD24470;CAD24471;CAD24472;CAD24473;CAD24474;EAW50055;EAW50056;EAW50057;EAW50058;EAW50059;EAW50060;EAW50061;NP_660289;Q70Z53 Hs.586650 1688803;1758561;2128667 RH93805;SHGC-148755;STS-N29485 C10orf4;F26C11.1-like;FRA10A OTTHUMP00000020120;fragile site 10q23.3;protein FRA10AC1;rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1 APPROVED protein-coding ENSG00000148690 1162 12319 608866 REVIEWED 1350986 FRAT2 frequently rearranged in advanced T-cell lymphomas 2 The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008] 10 10 10 q24.1 92830738 92832937 - 99082244 99084448 - 99092254 99094458 - 1580863;6480464;6907045 9635432;17433504;15522877;15489334;15164054;12477932;12095675;11738041;11237732;8889548;20613673 23401 O75474;Q53XP8 AB045118;ABBA01021810;AF062739;AL355490;AMYH01002976;BC020165;BT009770;BU675503;CH471066;DR006612;NM_012083 AAC39786;AAH20165;AAP88772;ABM86483;BAB39165;EAW49949;NP_036215;O75474 Hs.140720 1697198;1797546 FRAT2_1790;RH102090 MGC10562 FRAT-2;GSK-3 binding protein FRAT2;GSK-3-binding protein FRAT2;OTTHUMP00000020202 APPROVED protein-coding ENSG00000181274 16048 05419 605006 REVIEWED 1347992 FREM2 FRAS1 related extracellular matrix protein 2 This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Jul 2008] 13 13 13 q13.3 20314868 20515290 + 38159173 38359268 + 39261173 39461268 + 6480464;7240710 18671281;18203166;16880404;16335952;15838507;15345741;22538188;15146197;15057823;14702039;12477932;10737800;21875946;21900877;21993531 341640 Q5SZK8 ABBA01021319;ABBA01021320;ABBA01021321;AC017111;AK127571;AK127633;AL354819;AL590007;AL708377;AMYH01005045;BG991015;BN000687;BX538150;BX538304;BX640686;CH471075;CN291155;CR933724;NG_008125;NM_207361 AAI72230;BAC87040;CAD98036;CAD98088;CAE45813;CAH56764;CAI46253;EAX08607;EAX08608;NP_997244;Q5SZK8 Hs.253994 1727735;1737463 D13S1017;G63132 DKFZp686J0811;DKFZp781I048;KIAA1074 ECM3 homolog;FRAS1-related extracellular matrix protein 2;OTTHUMP00000018288 APPROVED protein-coding ENSG00000150893 25396 10602 219000;608945 REVIEWED 1604648 FRAT1 frequently rearranged in advanced T-cell lymphomas The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008] 10 10 q24.1 99069012 99071662 + 99079022 99081672 + 6480464;6907045 18498136;16982607;16479254;15489334;15164054;12805274;12556519;12477932;12095675;11894125;11738041;11445844;10428961;9034327;16385451;20096670;20041315;21818639;22528942 10023 Q92837 AB074890;ABBA01021811;ABBA01021812;AK307245;AL355490;AMYH01002976;AY271248;BC034476;BE041458;CH471066;NM_005479;U58975 AAB97096;AAH34476;BAB86352;EAW49950;EAW49951;NP_005470;Q92837 Hs.126057 1685145;1776309;1795868 FRAT1_113;RH71241;RH99329 FLJ97193 FRAT-1;OTTHUMP00000020201;frequently rearranged in advanced T-cell lymphomas 1;proto-oncogene FRAT1 APPROVED protein-coding ENSG00000165879 3944 03935 602503 REVIEWED 1642830 FRG2B FSHD region gene 2 family, member B 10 10 q26.3 135288593 135290289 - 135438603 135440299 - 6480464 15520407;15164054;11829491 441581 Q96QU4 ABBA01006222;AL731696;AMYH01003243;AY028079;AY744466;NM_001080998 AAK21977;AAV30885;NP_001074467;Q96QU4 Hs.690471 1709944 SHGC-82238 FSHD region gene 2 protein family member B;HSA10-FRG2;OTTHUMP00000020815;protein FRG2-like-1 protein-coding ENSG00000225899 33518 PROVISIONAL 1606665 FRG1B FSHD region gene 1 family, member B 20 20 20 q11.21 51893621 51915752 - 28225540 28247668 + 29611879 29634007 + 14702039;12477932;11780052;19586940;21832049 284802 F5H5R5;H0YEZ2;Q9BZ01 ABBA01015424;AL441988;AMYH01011826;BC062724;BC062743;BC095491;CH471240;NR_003579 EAW80443;EAW80444;Q9BZ01 Hs.653099 C20orf80;MGC72104;bA348I14.2 pseudo ENSG00000149531 15792 17570 PROVISIONAL 1315178 FRAS1 Fraser syndrome 1 This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 q21.21 76280569 76761461 + 79198120 79684447 + 78978724 79465423 + 1598960;6480464;7240710 12766769 18671281;18155042;17654118;15489334;14702039;12766770;12477932;10819331;3118036;20602751;20634891;16344560;19896111;22029163;20467438;21139048;21900877;23473829;23703922 80144 D6RCP6;H0Y8V2;H0Y930;H0Y9A6;H0Y9C9;Q86XX4 AB040933;ABBA01063377;ABBA01063378;ABBA01063379;ABBA01063380;ABBA01063381;AC093652;AC093886;AC093897;AC104808;AC131945;AJ512501;AK025684;AK027833;AK092082;AK096838;AL157471;AL831853;AL833581;AMYH01014324;AMYH01014325;AMYH01014326;AMYH01014327;AMYH01014328;AMYH01014329;AMYH01014330;BC009254;BC020192;BC052281;BC064487;BC094853;BC131820;BC131821;BX647420;BX647949;CH471057;CR627393;DA725113;DA881824;NG_015812;NM_001166133;NM_025074 AAH20192;AAH52281;AAH64487;AAI31821;AAI31822;AAY41027;BAA96024;BAB15216;BAB55399;CAD38554;CAD54734;CAH10488;CAH10691;EAX05821;NP_001159605;NP_079350;Q86XX4 Hs.369448 1339024;1664742;1695546;1700114;1726951;1735426;1739205;1756057;1775359;1784922;1784952;1785002;1850871;2132292;2140572;2148150;2152635;2168370;2174836;2179099;2180523;5015810;5094426 D3S3275;D4S2602E;D4S2630;G33791;G34289;G34409;G54790;G62721;GDB:182516;RH103670;RH15875;RH70795;SGC32653;SHGC-107365;SHGC-140640;SHGC-142864;SHGC-14424;SHGC-16556;SHGC-24698;SHGC-60067;SHGC-68715;SHGC4-1524;SHGC4-1840 DKFZp686I05113;DKFZp686P08111;FLJ14927;FLJ22031;KIAA1500 OTTHUMP00000219178;extracellular matrix protein FRAS1 APPROVED protein-coding ENSG00000138759 19185 06382 219000;607830 REVIEWED 2311729 FRG2C FSHD region gene 2 family, member C 3 3 3 p12.3 76457223 76460104 + 75713531 75718813 + 75713487 75716368 + 16641997;15520407;11245978 100288801 A6NGY1;C9JUX3 ABBA01030989;AC108724;AMYH01013292;CH471110;NM_001124759 A6NGY1;EAW68900;NP_001118231 Hs.274541 5022578 D1S1423 FSHD region gene 2 protein family member C;HSA3-FRG2;OTTHUMP00000213746;OTTHUMP00000213747;protein FRG2-like-2 protein-coding ENSG00000172969 33626 PROVISIONAL 1345384 FREM1 FRAS1 related extracellular matrix 1 This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011] 9 9 9 p22.3 14668102 14844502 - 14727150 14900234 - 14734664 14910993 - 6480464;7240710 15878328;15489334;15345741;15164053;15146197;14702039;12838346;12477932;8889548;20562859;19732862;19893584;19940113;20379614;22915813;23401257;21507892;20301721;22262840;21931569;22876578;23221805;22690109 158326 C9JT55;F8WE85;Q5H8C1 AB160987;ABBA01065294;ABBA01065295;ABBA01065296;ABBA01065297;AK054690;AK058190;AL354672;AL390732;AL512643;AMYH01019241;AMYH01019242;BC031064;BU677942;BX537574;BX641104;BX648240;CH471071;CN425447;DN992860;NG_017005;NM_001177704;NM_144966 AAH31064;AAI72226;BAB71709;BAD89015;CAE46048;EAW58688;EAW58689;EAW58690;NP_001171175;NP_659403;Q5H8C1 Hs.50850 1337670;1708348;1710322;1710620;1721263;1722299;1852756;2116954;2140893;2144076;2169587;2180277;5015619;5022578;5094336 D11S3114;D1S1423;D9S235;G29230;G54719;G59628;G60064;RH35821;RH46442;RH47057;SHGC-81109;SHGC-82406;SHGC-84099;STS-R98799;STS-W94882 BNAR;C9orf143;C9orf145;C9orf154;FLJ25461;MOTA;QBRICK;RP11-439N12.3;TILRR;TRIGNO2 FRAS1-related extracellular matrix protein 1;OTTHUMP00000021062;OTTHUMP00000207736;extracellular matrix protein QBRICK APPROVED protein-coding ENSG00000164946 23399 09865 248450;608944;608980;614485 REVIEWED 1320772 FRG1 FSHD region gene 1 This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008] 4 4 q35 191098968 191121353 + 190861974 190884359 + 1580863;6480464 21145461;19607661;19097195;18852887;16341202;15635413;15489334;15060122;12665801;12477932;11991638;10512680;9132141;8733123;20970242;17207965;19615732;21699900;21603621;21695143;22365833;23000965;21139048;19471022;20301616;22505724 2483 E9PI42;E9PLY7;E9PRR7;J3KSQ7;Q14331 AA749391;ABBA01015939;AF146191;AK291890;AMYH01014800;BC053997;BG426031;CH471056;L76159;NG_008142;NM_004477 AAA95939;AAD46768;AAH53997;ADQ32541;BAF84579;EAX04600;NP_004468;Q14331 Hs.203772 1644345;5492157 BARC0069;SGC38233 FRG1A;FSG1 FSHD region gene 1 protein;OTTHUMP00000217759;facioscapulohumeral muscular dystrophy region gene-1;protein FRG1 APPROVED protein-coding ENSG00000109536 3954 03176 601278 REVIEWED 1312459 FRMD3 FERM domain containing 3 The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q21.32 56432293 56723359 - 85052120 85343168 - 85857905 86153348 - 737633;6480464 12477932 17260017;14702039;12601556;8125298;19252134;20379614;20460425;21698141 257019 Q5JV61;Q8N3Y5 ABBA01033998;ABBA01033999;ABBA01034000;ABBA01034001;AK094281;AK223597;AK297722;AL137847;AL161786;AL353641;AL450026;AMYH01021458;AMYH01021459;AY137774;BC023560;BC037253;BC041376;BM873990;BX647549;CH471089;EF560742;NM_001244959;NM_001244960;NM_001244961;NM_001244962;NM_174938 A2A2Y4;AAH23560;AAH37253;AAN52119;ABQ59052;ACT64586;BAC04321;BAD97317;BAG60076;EAW62647;EAW62648;EAW62649;EAW62650;EAW62651;NP_001231888;NP_001231889;NP_001231890;NP_001231891;NP_777598 Hs.127535;Hs.743606 1336299;1661490;1679630;1706834;1749811;1787164;1848057;2107115;2124935;2178610;7186440 D9S152;D9S1733;D9S2150;D9S2153;FRMD3__6754;RH68275;RH92879;SHGC-111546;SHGC-156240;SHGC-80898 4.1O;EPB41L4O;EPB41LO;MGC20553;P410;RP11-439K3.2 FERM domain-containing protein 3;OTTHUMP00000021540;OTTHUMP00000082756;band 4.1-like protein 4;band 4.1-like protein 4O;ovary type protein 4.1;protein 4.1O APPROVED protein-coding ENSG00000172159 24125 07402 607619 REVIEWED 1350302 FRMD4A FERM domain containing 4A 10 10 10 p13 13612839 14300505 - 13725712 14412872 - 13685706 14372866 - 737633;6480464 12477932 14702039;10718198;22006218;16385451;17643375;20031603;20379614;17043677;22564525;22068108 55691 F8WAN4;Q5T376;Q5T378;Q9P2Q2 AB037715;ABBA01034613;ABBA01034614;ABBA01034615;ABBA01034616;ABBA01034617;ABBA01034618;ABBA01034619;ABBA01034620;ABBA01034621;ABBA01034622;ABBA01034623;ABBA01034624;ABBA01034625;AC044781;AC069025;AK001072;AK057828;AK093978;AK094045;AK289693;AL157392;AL157896;AL365495;AL512660;AL607075;AMYH01002045;AMYH01002046;AMYH01002047;AMYH01002048;AMYH01002049;AMYH01002050;AMYH01002051;BC018891;BC151244;CH471072;NM_018027 AAI51245;BAA91492;BAA92532;BAF82382;EAW86275;EAW86276;EAW86277;NP_060497;Q9P2Q2 Hs.330463;Hs.656573 1335568;1336066;1337675;1341937;1645268;1654167;1659401;1663093;1664265;1666378;1681744;1688356;1695668;1707216;1710116;1725601;1736056;1736084;1736108;1737159;1739375;1758201;1758541;1760273;1762383;1764215;1767906;1769172;1777141;1777598;1779216;1779534;1780040;1782032;1782066;1787012;1847471;2107117;2111063;2111344;2115305;2125805;2128109;2143149;2155306;2162297;2168212;2180564;2181636;5015605;5022578;5037552;7186429 A008J08;A008T01;AFMa111yb9;D10S1270E;D10S1332E;D10S1361E;D10S1369E;D10S1382E;D10S1545E;D10S1664;D10S1707;D10S1864;D10S223;D10S2275;D10S485E;D10S506;D11S2977;D11S3020;D1S1423;D8S2279;FRMD4__6755;G62020;HSC13H072;NIB1705;RH45365;RH45517;RH46504;RH65818;RH70373;RH76384;RH78375;RH94371;SHGC-12991;SHGC-132597;SHGC-146212;SHGC-147648;SHGC-147850;SHGC-148669;SHGC-149575;SHGC-149858;SHGC-152835;SHGC-153502;SHGC-153952;SHGC-154294;SHGC-33538;SHGC-36407;SHGC-78712;SHGC-79195;SHGC-83769;STS-N70116;STS-R39119;WI-21574 FLJ10210;FRMD4;KIAA1294;RP11-397C18.4;bA295P9.4 FERM domain-containing protein 4A;OTTHUMP00000019149;OTTHUMP00000019151 protein-coding ENSG00000151474 25491 13553 VALIDATED 1606060 FRG2 FSHD region gene 2 4 4 q35 191182516 191185406 - 190945522 190948412 - 15520407;12477932;12176321;11829491;20975055;21695143 448831 E7EN36;Q64ET8 AF146191;AMYH01014801;AY714545;BC144572;NM_001005217 AAI44573;AAU14220;NP_001005217;Q64ET8 Hs.626907 1709944 SHGC-82238 FRG2A FSHD region gene 2 protein;OTTHUMP00000218066;OTTHUMP00000218072;protein FRG2 protein-coding ENSG00000205097 19136 16418 609032 PROVISIONAL 1344152 FRMD6-AS1 FRMD6 antisense RNA 1 14 14 14 q22.1 31983646 31985448 - 51185984 51202004 - 52116234 52118462 - 14702039;11181995 145438 P0C7T7 ABBA01018156;AK022437;AL079307;AL122125;AMYH01005727;BX104826;CH471078;NR_037676;W44516 EAW65672;P0C7T7 Hs.645410 5014051;5015619;5021872;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426;sY3084 C14orf82;FLJ12375 chromosome 14 open reading frame 82 APPROVED miscrna 20129 VALIDATED 1352660 FRMD1 FERM domain containing 1 6 6 6 q27 169174621 169197929 - 168199336 168222688 - 168456464 168479839 - 1580863 14702039;14574404;22610502;12477932 79981 D6RB43;F5GXR0;H0Y9A3;Q8N878 ABBA01000413;AK026268;AK074110;AK097179;AK097579;AK125963;AK303194;AK303407;AK316478;AL133077;AL589733;AMYH01016868;BC137144;CH471051;NM_001122841;NM_024919 AAI37145;BAB15421;BAB84936;BAC04972;BAG53488;BAH13916;BAH13955;BAH14849;CAB61397;EAW47471;EAW47472;NP_001116313;NP_079195;Q8N878 Hs.266746 5015619 D11S3114 DKFZp434O0117;FLJ00181;FLJ22615;FLJ40260;bA164L23.1 FERM domain-containing protein 1;OTTHUMP00000219079;OTTHUMP00000219098 protein-coding ENSG00000153303 21240 10997 VALIDATED 6481142 FRMD6-AS2 FRMD6 antisense RNA 2 14 51921230 52066670 - 16344560;20171287 100874185 ABBA01018154;ABBA01018155;AL122125;AL358332;AMYH01005726;AMYH01005727;DA199814;DB283917;NR_047477;NR_051990 Hs.578226 APPROVED miscrna ENSG00000258537 43637 PREDICTED 734122 FRK fyn-related kinase The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008] 6 6 q21-q22.3 116369386 116488614 - 116262693 116381921 - 1580863;6480464 7510261;7664264;7696183;19345329;15951569;15489334;15082191;12750000;12725532;12569567;12477932;8099900;10229084;20800603;21074287;21665990;22745667;20686565;22790444;22939624;23263486 2444 B4DY49;P42685 ABBA01026047;ABBA01026048;ABBA01026049;AK302264;AK313314;AL121963;AL357141;AMYH01016613;AMYH01016614;AMYH01016615;AMYH01016616;BC012916;CH471051;NM_002031;U00803;U22322 AAA18284;AAC50116;AAH12916;ABM85569;BAG36119;BAG63611;EAW48241;NP_002022;P42685 Hs.89426 1677788;5119201 D6S1513;RH67005 GTK;PTK5;RAK OTTHUMP00000017048;PTK5 protein tyrosine kinase 5;nuclear tyrosine protein kinase RAK;protein-tyrosine kinase 5;tyrosine-protein kinase FRK APPROVED protein-coding ENSG00000111816 3955 05954 606573 REVIEWED 1348430 FRMD4B FERM domain containing 4B 3 3 3 p14.1 69147274 69362951 - 69301836 69518120 - 69219146 69435430 - 1580863;6480464 15489334;14702039;12477932;11445584;10231032;19913121;20628086;20718813;20124441;20190752;20379614 23150 B3KNA2;C9J6Q2;C9J7M5;C9JA15;C9JAW0;C9JBX2;C9JYK2;E9PGA7;F5H6F3;H7C550;Q2TB00;Q9Y2L6 AB023230;ABBA01030899;ABBA01030900;ABBA01030901;ABBA01030902;ABBA01030903;ABBA01030904;AC112221;AC135851;AK000244;AK024086;AK091076;AK295045;AL110231;AL832231;AMYH01013261;AMYH01013262;AMYH01013263;AMYH01013264;BC028291;BC043396;BC057836;BC110637;CB988073;DC340455;NM_015123 AAH28291;AAH57836;AAI10638;AAI72315;BAA76857;BAG51264;BAG58096;NP_055938;Q9Y2L6 Hs.709671 1645927;1660784;1687712;1774331;1774367;2107191;2124067;2134065;2144708;2151189;2153511;2176070;5022200;5022578;5037552 A004T19;D1S1423;D3S3341;D3S3466;D3S4106;D8S2279;G10598;G16566;GRSP1__7551;L18426;RH91849;SHGC-13155;SHGC-34246;SHGC-77073;STS-N34415 6030440G05Rik;GRSP1;KIAA1013 FERM domain-containing protein 4B;GRP1-binding protein GRSP1;OTTHUMP00000213421 protein-coding ENSG00000114541 24886 VALIDATED 1347019 FRMD6 FERM domain containing 6 14 14 14 q22.1 31822811 32064436 + 51025605 51267195 + 51955839 52197445 + 6480464 18029348;16341207;16189514;16137681;15489334;15324660;14702039;12508121;12477932;19668339;20171287;21116278;21785462;21666719;22190428;21139048;16344560;22216198 122786 G3V2L4;G3V3V8;G3V4T7;G3V517;H0YJ19;H0YJC1;Q96NE9 ABBA01018154;ABBA01018155;ABBA01018156;AK021747;AK055545;AK126521;AK129995;AK315764;AL079307;AL122125;AL833158;AL833380;AL833661;AMYH01005727;BC020521;BC029870;BX161430;BX647239;BX647863;BX648295;CH471078;DA456598;NM_001042481;NM_001267046;NM_001267047;NM_152330 AAH20521;AAH29870;ADZ15577;BAB70950;BAG38116;BAG54342;CAD61902;CAI46062;CAI46264;EAW65666;EAW65667;EAW65668;EAW65669;EAW65670;EAW65671;NP_001035946;NP_001253975;NP_001253976;NP_689543;Q96NE9 Hs.434914 1653927;1698512;1701434;1756785;2140737 A004Z23;RH102806;RH104349;SGC32576;SHGC-143916 C14orf31;EX1;MGC17921;Willin;c14_5320 4.1 ezrin radixin moesin (FERM)-containing protein;FERM domain-containing protein 6;OTTHUMP00000178977;OTTHUMP00000178978;OTTHUMP00000245043;OTTHUMP00000245046;expanded homolog protein-coding ENSG00000139926 19839 12646 614555 VALIDATED 1605020 FRMD8P1 FERM domain containing 8 pseudogene 1 X X X q12 65117643 65119442 - 64687127 64689126 - 64770502 64772301 - 6480464 12477932;21906983 83957 Q9BZ68 ABBA01067026;AF334945;AL050306;AMYH01022502;BC128150;NR_033742 AAG50294 Hs.652967 5493363 UniSTS:485841 MGC149236 APPROVED pseudo ENSG00000227942 24690 06511 VALIDATED 1605911 FRMD5 FERM domain containing 5 15 15 15 q15.3 21055188 21376921 - 41953022 42274721 - 44165730 44487429 - 6480464 18029348;15489334;14702039;12477932;16169070;21139048;20686565;23000965;23022100;22846708 84978 B5MC67;F8WCI0;F8WD70;F8WEJ8;H0Y5N1;H0YKW6;H0YNI9;H7C282;Q7Z6J6 ABBA01039217;ABBA01039218;ABBA01039219;ABBA01039220;AC023356;AC073940;AC090513;AC090516;AK090572;AK123018;AK290013;AMYH01006607;BC007796;BC020191;BC043486;BC053647;CH471082;NM_032892 AAH53647;BAC03480;BAF82702;BAG53851;EAW77249;EAW77250;EAW77251;EAW77252;EAW77253;EAW77254;EAW77255;NP_116281;Q7Z6J6 Hs.578544 1664010;1736794;1749573;1755001;1757121;1798334;1798356;1798460;1798988;1799018;1799558;1801164;1803426;1804162;1806220;1806788;1807318;1807398;1808920;1809114;1809518;1809924;1811110;1811176;1811276;1812482;1812836;1813428;1814018;1814446;1814520;1814810;1815040;1816514;1816870;1816872;1816956;1819036;1820026;1820168;1821290;1821360;1821422;1821424;1822410;1822550;1822760;1822762;1823012;1823470;1824220;1824604;1825236;1825316;1825708;1827010;1827840;1828024;1828100;1828184;1828286;1829506;1830264;1830816;1831714;1832060;1833562;1836556;1837270;1839126;1839630;1839936;1840838;1843694;1844120;1844554;1844660;1844830;1934328;1934330;1934332;1934334;1934336;1934338;1934340;1934342;1934344;1934346;1934348;1934350;1934352;1934354;1934356;1934358;1934360;1934362;1934364;1934366;1934368;1934370;1934372;1934374;1934376;1934378;1934380;1934382;1934384;1934386;1934388;1934390;1934392;1934394;1934396;1934398;1934400;1934402;1934404;1934406;1934408;1934410;1934412;1934414;1934416;1934418;1934420;1934422;1934424;1934426;1934428;1934430;1934432;1934434;1934436;1934438;1934440;1934442;1934444;1934446;1934448;1934450;1934452;1934454;1934456;1934458;1934460;1934462;1934464;1934466;1934468;1934470;1934472;1934474;1934476;1934478;1934480;1934482;1934484;1934486;1934488;1934490;1934492;1934494;1934496;1934498;1934500;1934502;1934504;1934506;1934508;1934510;1934512;1934514;1934516;1934518;1934520;1934522;1934524;1934526;1934528;1934530;1934532;1934534;1934536;1934538;1934540;1934542;1934544;1934546;1934548;1934550;1934552;1934554;1934556;1934558;1934560;1934562;1934564;1934566;1934568;1934570;1934572;1934574;1934576;1934578;1934580;1934582;1934584;1934586;1934588;1934590;1934592;1934594;1934596;1934598;1934600;1934602;1934604;1934606;1934608;1934610;1934612;1934614;1934616;1934618;1934620;1934622;1934624;1934626;1934628;1934630;1934632;1934634;1934636;1934638;1934640;1934642;1934644;1934646;1934648;1934650;1934652;1934654;1934656;1934658;1934660;1934662;1934664;1934666;1934668;1934670;1934672;1934674;1934676;1934678;1934680;1934682;1934684;1934686;1934688;1934690;1934692;1934694;1934696;1934698;1934700;1934702;1934704;1934706;1934708;1934710;1934712;1934714;1934716;1934718;1934720;1934722;1934724;1934726;1934728;1934730;1934732;1934734;1934736;1934738;1934740;1934742;1934744;1934746;1934748;1934750;1934752;1934754;1934756;1934758;1934760;1934762;1934764;1934766;1934768;1934770;1934772;1934774;1934776;1934778;1934780;1934782;1934784;1934786;1934788;1934790;1934792;1934794;1934796;1934798;1934800;1934802;1934804;1934806;1934808;1934810;1934812;1934814;1934816;1934818;1934820;1934822;1934824;1934826;1934828;1934830;1934832;1934834;1934836;1934838;1934840;1934842;1934844;1934846;1934848;1934850;1934852;1934854;1934856;1934858;1934860;1934862;1934864;1934866;1934868;1934870;1934872;1934874;1934876;1934878;1934880;1934882;1934884;1934886;1934888;1934890;1934892;1934894;1934896;1934898;1934900;1934902;1934904;1934906;1934908;1934910;1934912;2111234;2111246;2209176;2209186;2209188;2209190;2209192;2209194;2209196;2209198;2209200;2209202;2209204;2209206;2209208;2209210;2209212;2209214;2209216;2209218;2209220;2209222;2209224;2209226;2209228;2209230;2209232;2209234;2209236;2209238;2209240;2209242;2209244;2209246;2209248;2209250;2209252;2209254;2209256;2209258;2209260;2209262;2209264;2209266;2209268;2209270;2209272;2209274;2209276 D15S1307;D15S487;D15S495;D15S783;ECD00002;ECD00013;ECD00067;ECD00337;ECD00354;ECD00631;ECD01454;ECD02610;ECD03001;ECD04065;ECD04356;ECD04630;ECD04670;ECD05443;ECD05546;ECD05751;ECD05954;ECD06553;ECD06586;ECD06636;ECD07248;ECD07431;ECD07735;ECD08036;ECD08252;ECD08290;ECD08436;ECD08552;ECD09299;ECD09481;ECD09482;ECD09527;ECD10584;ECD11085;ECD11158;ECD11725;ECD11764;ECD11795;ECD11796;ECD12293;ECD12363;ECD12468;ECD12469;ECD12594;ECD12826;ECD13207;ECD13400;ECD13719;ECD13764;ECD13962;ECD14620;ECD15043;ECD15135;ECD15173;ECD15217;ECD15268;ECD15884;ECD16266;ECD16544;ECD16994;ECD17168;ECD17924;ECD19442;ECD19802;ECD20742;ECD20998;ECD21151;ECD21612;ECD23058;ECD23273;ECD23491;ECD23544;ECD23631;REN37997;REN37998;REN37999;REN38000;REN38001;REN38002;REN38003;REN38004;REN38005;REN38006;REN38007;REN38008;REN38009;REN38010;REN38011;REN38012;REN38013;REN38014;REN38015;REN38016;REN38017;REN38018;REN38019;REN38020;REN38021;REN38022;REN38023;REN38024;REN38025;REN38026;REN38027;REN38028;REN38029;REN38030;REN38031;REN38032;REN38033;REN38034;REN38035;REN38036;REN38037;REN38038;REN38039;REN38040;REN38041;REN38042;REN38043;REN38044;REN38045;REN38046;REN38047;REN38048;REN38049;REN38050;REN38051;REN38052;REN38053;REN38054;REN38055;REN38056;REN38057;REN38058;REN38059;REN38060;REN38061;REN38062;REN38063;REN38064;REN38065;REN38066;REN38067;REN38068;REN38069;REN38070;REN38071;REN38072;REN38073;REN38074;REN38075;REN38076;REN38077;REN38078;REN38079;REN38080;REN38081;REN38082;REN38083;REN38084;REN38085;REN38086;REN38087;REN38088;REN38089;REN38090;REN38091;REN38092;REN38093;REN38094;REN38095;REN38096;REN38097;REN38098;REN38099;REN38100;REN38101;REN38102;REN38103;REN38104;REN38105;REN38106;REN38107;REN38108;REN38109;REN38110;REN38111;REN38112;REN38113;REN38114;REN38115;REN38116;REN38117;REN38118;REN38119;REN38120;REN38121;REN38122;REN38123;REN38124;REN38125;REN38126;REN38127;REN38128;REN38129;REN38130;REN38131;REN38132;REN38133;REN38134;REN38135;REN38136;REN38137;REN38138;REN38139;REN38140;REN38141;REN38142;REN38143;REN38144;REN38145;REN38146;REN38147;REN38148;REN38149;REN38150;REN38151;REN38152;REN38153;REN38154;REN38155;REN38156;REN38157;REN38158;REN38159;REN38160;REN38161;REN38162;REN38163;REN38164;REN38165;REN38166;REN38167;REN38168;REN38169;REN38170;REN38171;REN38172;REN38173;REN38174;REN38175;REN38176;REN38177;REN38178;REN38179;REN38180;REN38181;REN38182;REN38183;REN38184;REN38185;REN38186;REN38187;REN38188;REN38189;REN38190;REN38191;REN38192;REN38193;REN38194;REN38195;REN38196;REN38197;REN38198;REN38199;REN38200;REN38201;REN38202;REN38203;REN38204;REN38205;REN38206;REN38207;REN38208;REN38209;REN38210;REN38211;REN38212;REN38213;REN38214;REN38215;REN38216;REN38217;REN38218;REN38219;REN38220;REN38221;REN38222;REN38223;REN38224;REN38225;REN38226;REN38227;REN38228;REN38229;REN38230;REN38231;REN38232;REN38233;REN38234;REN38235;REN38236;REN38237;REN38238;REN38239;REN38240;REN38241;REN38242;REN38243;REN38244;REN38245;REN38246;REN38247;REN38248;REN38249;REN38250;REN38251;REN38252;REN38253;REN38254;REN38255;REN38256;REN38257;REN38258;REN38259;REN38260;REN38261;REN38262;REN38263;REN38264;REN38265;REN38266;REN38267;REN38268;REN38269;REN38270;REN38271;REN38272;REN38273;REN38274;REN38275;REN38276;REN38277;REN38278;REN38279;REN38280;REN38281;REN38282;REN38283;REN38284;REN38285;REN38286;REN38287;REN38288;REN38289;SHGC-111270;SHGC-141950;SHGC-144561;stSG628009;stSG628015;stSG628016;stSG628017;stSG628018;stSG628019;stSG628020;stSG628021;stSG628022;stSG628023;stSG628024;stSG628025;stSG628026;stSG628028;stSG628029;stSG628030;stSG628031;stSG628032;stSG628033;stSG628034;stSG628035;stSG628036;stSG628037;stSG628038;stSG628040;stSG628041;stSG628042;stSG628043;stSG628044;stSG628045;stSG628046;stSG628047;stSG628048;stSG628049;stSG628050;stSG628051;stSG628052;stSG628053;stSG628054;stSG628055;stSG628056;stSG628057;stSG628058;stSG628059;stSG628060;stSG628061;stSG628062 FLJ41022;MGC14161 FERM domain-containing protein 5;OTTHUMP00000066883;OTTHUMP00000066884;OTTHUMP00000196882 protein-coding 28214 17493 VALIDATED 1601735 FRMPD3 FERM and PDZ domain containing 3 X X X q22 107237183 107319985 + 106652336 106735135 + 106765680 106848479 + 6480464 18029348;15772651;11347906 84443 Q5JV73 AB058720;ABBA01035902;ABBA01035903;AL035088;AL137787;AMYH01022830;XM_003846769;XM_003960833;XM_042978 BAB47446;Q5JV73;XP_003846817;XP_003960882;XP_042978 Hs.496546 1662327;1694068;1694072;1694078;1702818;1703090;1712875;2165584 AL022452;AL035128;AL035153;AL035156;DXS1332;DXS1456;RH120154;STS-X85323 KIAA1817;RP5-1070B1.1 FERM and PDZ domain-containing protein 3;OTTHUMP00000023806 protein-coding ENSG00000147234 29382 MODEL 6481207 FRMPD3-AS1 FRMPD3 antisense RNA 1 100874122 AL035088 APPROVED miscrna 41239 1602672 FRMD8 FERM domain containing 8 11 11 11 q13 62480396 62507341 + 64910617 64937572 + 65154041 65180996 + 6480464 18029348;16344560;14702039;12477932;20098747;21832049;21139048;21906983;19322201;22505724 83786 B4E2P1;E9PRA3;E9PRP1;E9PS62;Q8N4M4;Q9BZ67 ABBA01024122;ABBA01024123;ABBA01024124;ABBA01024125;ABBA01024126;AF334946;AK056778;AK074850;AK291678;AK304363;AMYH01003719;AP000944;BC014498;BC033851;BC044658;BC051695;CH471076;DA863645;DB453671;NM_031904 AAG50295;AAH33851;AAH44658;AAH51695;ACE86791;ACE87478;BAB71282;BAC11244;BAF84367;BAG65203;EAW74384;EAW74385;EAW74386;NP_114110;Q9BZ67 Hs.578433 2129660;5109281 D1S1425;G33113 FKSG44;FLJ32216;FLJ90369;MGC31785 FERM domain-containing protein 8;FKSG44;OTTHUMP00000232422;OTTHUMP00000232424;OTTHUMP00000232425 protein-coding ENSG00000126391 25462 13326 VALIDATED 6481205 FRMPD4-AS1 FRMPD4 antisense RNA 1 100874121 AC112657 APPROVED miscrna 41222 1352948 FRMD7 FERM domain containing 7 Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008] X X q26.2 131038704 131089731 - 131211021 131262050 - 7240710;6480464 18029348;19072571;18431453;18372314;18247295;18246032;18087240;17962394;17893669;17846367;17768376;17397053;17013395;16240070;15772651;15489334;14702039;12477932;10090899;2063919;21365021;19892780;20450309;21220551;21303855;21386928;21746984;22128244;22065930;22262942;20301748;22490987 90167 Q6ZUT3 ABBA01042194;ABBA01042195;ABBA01042196;AK125336;AL049792;AL109749;AL161984;AL449383;AMYH01022985;BC114371;CH471107;FJ717411;NG_012347;NM_194277 AAI14372;ACN56448;BAC86135;EAX11785;NP_919253;Q6ZUT3 Hs.170776 1299932;1705536;1851268;2126934;2178238 AL023935;AL031253;DXS6808;DXS993;SHGC-83868 FLJ43346;NYS;NYS1;RP6-213H19.2;XIPAN FERM domain-containing protein 7;OTTHUMP00000024035;OTTHUMP00000215108;OTTHUMP00000215109;nystagmus 1, congenital APPROVED protein-coding ENSG00000165694 8079 06624 300628;310700 REVIEWED 1313132 FRMPD1 FERM and PDZ domain containing 1 9 9 9 p13.2 37584272 37680095 + 37641052 37736901 + 37651052 37746901 + 1601189;6480464 17404222 18566450;12477932;10231032;20379614;18029348;23318951 22844 B4DZC8;B7Z807;F5H0G3;Q5SYB0 AB023184;ABBA01050389;ABBA01050390;AK302739;AK302854;AL513165;AL591470;AMYH01019359;AMYH01019360;BC114965;BX648967;CH471071;NM_014907 AAI14966;BAA76811;BAG64040;BAH13793;CAI46019;EAW58270;EAW58271;NP_055722;Q5SYB0 Hs.163990 1681865;1764095;1780044;1786964;2107119;2111334 D5S1557E;FRMPD1__6756;RH92430;SHGC-144715;SHGC-147751;SHGC-154297 FRMD2;KIAA0967;MGC138833;RP11-263I4.1 FERM and PDZ domain-containing protein 1;FERM domain-containing protein 2;OTTHUMP00000021391;OTTHUMP00000240469 protein-coding ENSG00000070601 29159 17018 VALIDATED 1346527 FRRS1L ferric-chelate reductase 1-like 9 9 9 q31 82398790 82428780 - 110939402 110969392 - 111899581 111929571 - 6480464 15164053;10603000 23732 Q9P0K9 ABBA01042768;ABBA01042769;ABBA01042770;ABBA01042771;AF155065;AI089389;AL358815;AMYH01021620;BF514667;CH471105;NM_014334 AAF28159;AAI56448;EAW59040;NP_055149;Q9P0K9 Hs.347537 C9orf4;CG-6;CG6 DOMON domain-containing protein FRRS1L;OTTHUMP00000021879;brain protein CG-6;ferric-chelate reductase 1-like protein;hypothetical protein LOC23732;uncharacterized protein C9orf4 APPROVED protein-coding 1362 18583 604574 VALIDATED 1350685 FRMPD2P1 FERM and PDZ domain containing 2 pseudogene 1 This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene. Together with another related pseudogene, all three loci are located in a region of segmental duplication on chromosome 10q. This gene is located between the most centromerically proximal and distal copies. [provided by RefSeq, Dec 2009] 10 10 q11.22 48464046 48483638 - 48844036 48862688 - 12477932 728798 Q6IN97 AK294650;AK313659;AK315971;AMYH01002554;BC071635;BC072395;BC110798;BC137431;BC137434;BC137439;BC137440;BC144635;BX005072;DC315823;NR_033172 AAH71635;AAH72395;AAI10799;AAI37432;AAI37435;AAI37440;AAI37441;AAI44636;BAG36413;BAG57825;BAH14342;Q6IN97 Hs.709611 5125606 D10S1869 FLJ78870;FLJ94239;FRMPD2L1;MGC169052;MGC169055;MGC169060;MGC169061;PDZD5A;PDZK5A;yX59F3.2 pdz domain containing 5a APPROVED pseudo ENSG00000197704 16843 VALIDATED 1349524 FRMPD2 FERM and PDZ domain containing 2 This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009] 10 10 10 q11.22 42962487 43068811 - 49034611 49152723 - 49364602 49482941 - 1580863;6480464 12477932;17207965;16385451;19706687;20379614;21385318 143162 F8WCT2;Q68DX3 ABBA01047221;ABBA01245996;AC013284;AC074325;AK123038;AK131386;AK303923;AMYH01002635;AMYH01002636;AY491519;BC031614;BC040910;BC073954;BC144636;BC144639;CH471187;CR749241;DC342800;DC425871;NM_001018071;NM_001042512 AAH31614;AAH73954;AAI44637;AAI44640;AAI56409;AAI57132;AAS79660;ADQ32010;BAC85520;BAD18537;BAG64851;CAH18097;EAW93139;EAW93140;EAW93141;NP_001018081;NP_001035977;Q68DX3 Hs.664786;Hs.709611 1715097;5125606;5127605 D10S1869;RH119500;WI-15516 MGC178184;MGC178187;MGC35285;MGC87776;MGC87777;MGC90186;PDZD5C;PDZK4;PDZK5C FERM and PDZ domain-containing protein 2;OTTHUMP00000019549;OTTHUMP00000179094;OTTHUMP00000217275;PDZ domain containing 5C;PDZ domain-containing protein 4;PDZ domain-containing protein 5C APPROVED protein-coding ENSG00000170324 28572 17019 613323 REVIEWED 1351209 FRMPD2P2 FERM and PDZ domain containing 2 pseudogene 2 This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene. Together with another related pseudogene, all three loci are located in a region of segmental duplication on chromosome 10q. This gene represents the most centromerically proximal copy. [provided by RefSeq, Dec 2009] 10 10 q11.22 46077145 46096738 - 46657136 46675734 - 12477932 728603 Q6IN97 AK294650;AK313659;AK315971;AL450334;BC071635;BC072395;BC110798;BC137431;BC137434;BC137439;BC137440;BC144635;NG_016240 AAH71635;AAH72395;AAI10799;AAI37432;AAI37435;AAI37440;AAI37441;AAI44636;BAG36413;BAG57825;BAH14342;Q6IN97 Hs.709611 FRMPD2L2;FRMPDP2;PDZD5B;PDZK5B;bA556L1.2 pdz domain containing 5b APPROVED pseudo 23453 INFERRED 1604148 FRRS1 ferric-chelate reductase 1 Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008] 1 1 1 p21.2 98429137 98486225 - 99946847 100003937 - 100174259 100231349 - 6480464 14499595;12477932;20379614;23218918 391059 Q6ZNA5 ABBA01045449;AC105270;AK131302;AL451051;AMYH01000824;BC029438;CH471097;NM_001013660 AAI56176;AAI57017;BAD18470;EAW72988;NP_001013682;Q6ZNA5 Hs.454779 1648228;2185732;5015619;5016478;5037552;5094096 A010A31;D11S3114;D8S2279;G34970;GDB:434012;SHGC-75214 SDFR2;SDR2 OTTHUMP00000012465;SDR-2;ferric-chelate reductase 1;stromal cell derived factor receptor 2 homolog;stromal cell-derived receptor 2 APPROVED protein-coding ENSG00000156869 27622 18403 611578 VALIDATED 1353602 FRMPD4 FERM and PDZ domain containing 4 This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010] X X X p22.2 16274012 16856608 + 12066506 12650450 + 12156585 12742642 + 1580863;6480464 12477932;12421765;9205841;19913121;20628086;19118189;22321011 9758 Q14CM0 AB002314;ABBA01070970;ABBA01070971;ABBA01070972;ABBA01070973;ABBA01070974;ABBA01070975;ABBA01070976;ABBA01070977;ABBA01070978;ABBA01070979;ABBA01070980;ABBA01070981;ABBA01070982;ABBA01070983;ABBA01070984;ABBA01070985;ABBA01070986;ABBA01070987;ABBA01070988;ABBA01070989;ABBA01070990;ABBA01070991;ABBA01070992;ABBA01070993;ABBA01070994;ABBA01070995;ABBA01070996;ABBA01070997;ABBA01070998;ABBA01070999;ABBA01071000;ABBA01071001;ABBA01071002;ABBA01071003;ABBA01071004;ABBA01071005;ABBA01071006;ABBA01071007;ABBA01071008;ABBA01071009;ABBA01071010;ABBA01071011;ABBA01071012;ABBA01071013;ABBA01071014;ABBA01071015;ABBA01071016;ABBA01071017;ABBA01071018;ABBA01071019;ABBA01071020;ABBA01071021;ABBA01071022;ABBA01071023;ABBA01071024;AC002981;AC112499;AC112655;AC112657;AC119619;AK289694;AMYH01022087;AMYH01022088;AMYH01022089;AMYH01022090;AMYH01022091;BC113700;BC113702;BC143746;BX089361;CH471074;NG_016419;NM_014728 AAI13701;AAI13703;AAI43747;ADR83294;BAA20774;BAF82383;EAW98804;NP_055543;Q14CM0 Hs.657507 1337781;1656877;1667434;1701996;1702982;1703086;1727705;1749515;1749581;1753083;1766837;1776450;1787340;1851348;1851961;1852708;1853596;1856370;1923354;2121265;2122042;2150575;2151838;2176064;2187088;2219482 152;AF020095;DXS1006E;DXS1434;DXS1444;DXS6723;DXS7005E;DXS7104;DXS7510;DXS7562;DXS7727;DXS7740;DXS7753;G18214;G63266;PDZK10__5852;REN32501;RH47776;RH77767;SHGC-111221;SHGC-111274;SHGC-152226;SHGC-154904;SHGC-36795;SHGC-68548;STS-Z41089 KIAA0316;MGC142260;MGC142262;PDZD10;PDZK10 FERM and PDZ domain-containing protein 4;OTTHUMP00000022920;PDZ domain-containing protein 10;PSD-95-interacting FERM and PDZ domain protein;PSD-95-interacting regulator of spine morphogenesis;Preso APPROVED protein-coding ENSG00000169933 29007 10011 300838 REVIEWED 1352555 FRYL FRY-like 4 4 4 p11 48948061 49230702 - 48194137 48477073 - 48499380 48782316 - 737633;6480464 12477932 17353931;18195096;17854671;16061630;10048485;9847074;16189514;22863883;23022380;15324660;17043677;21139048;21890473;21906983;22586326;22952844 285527 B3KXG5;D6R9B9;D6RJI4;F2Z2S2;F5GX82;H0Y9X0;O94915;Q6ZR29 AB020633;ABBA01014350;ABBA01014351;ABBA01014352;ABBA01014353;ABBA01014354;AC068037;AC096952;AK025034;AK127307;AK128452;AK131250;AL137546;AL833170;AL833444;AMYH01014161;AMYH01014162;BC021803;BC040987;BC050336;CR627228;DQ299938;DQ299939;DQ299940;NM_015030;U80082 AAD00351;AAH21803;BAA74849;BAD18429;BAG54477;BAG54677;CAB70804;CAH10365;NP_055845;O94915 Hs.595553 1341182;1656323;1667894;1682235;1685778;1687832;1689364;1734274;1744889;1766989;2137929;2160984;2164988;5021564 D20F300S2;D4S2466E;D4S3002;G02278;RH66159;SGC31162;SHGC-152556;SHGC-50381;SHGC-53011;SHGC-53327;SHGC-67424;SHGC-67640;SHGC-67773;STS-N33329 DKFZp686E205;FLJ16177;KIAA0826 ALL1-fused gene from chromosome 4p12 protein;OTTHUMP00000222200;furry homolog-like;furry-like;protein furry homolog-like protein-coding ENSG00000075539 29127 VALIDATED 1349911 FRY furry homolog (Drosophila) 13 13 13 q13.1 13672265 13937607 + 31503437 31768776 + 32605437 32870776 + 6480464 15057823;14702039;9847074;8812419;19327996;19773279;20379614;16196087;21906983;12586822;23382691;22753416 10129 B1ALA1;F5H4D2;H0YE00;Q5JS89;Q5TBA9 AA993094;ABBA01010130;ABBA01010131;ABBA01010132;ABBA01010133;AC000062;AC002483;AK091422;AK298021;AL049784;AL137143;AL138692;AL445212;AMYH01005021;BX537670;CH471075;NM_023037;U50534;U57961;Z74739 AAB46343;AAC35295;BAC03659;BAG60324;CAB42442;CAC94764;CAC94765;CAD97805;CAI40475;CAI40477;CAI40478;EAX08489;EAX08490;EAX08491;EAX08492;EAX08493;EAX08494;EAX08495;NP_075463;Q5TBA9 Hs.507669;Hs.718654 1647658;1708830;1719399;1733290;1847565;2112084;2112086;2112092;2113348;2113424;2113452;2121412;2141698;2144555;2168454;2178976;5022200;5037740;7184753;7186158 D13S1692;D13S1698;D13S1699;D13S1735;D13S1776;D13S1791;D13S211;D13S644;D13S847E;D13S916;D1S3691;G29188;L18426;RH123428;RH44751;RH44798;SHGC-81083;STS-T77470;STS-T92327 13CDNA73;214K23.2;C13orf14;CG003;bA207N4.2;bA37E23.1 OTTHUMP00000018221;WUGSC:H_2G3A.1;chromosome 13 open reading frame 14;protein furry homolog protein-coding ENSG00000073910 20367 10821 614818 VALIDATED 5129359 FRY-AS1 FRY antisense RNA 1 13 13 q13.1 13665010 13672608 - 32598183 32605780 - 12477932 100507099 ABBA01010130;AF086419;AL137143;AMYH01005021;BC035084;NR_103839;XR_110114;XR_111377;XR_172000 Hs.536364 1717889;2146979;5016478 GDB:434012;RH122776;SHGC-57684 APPROVED miscrna 39725 VALIDATED 1321005 FRS3 fibroblast growth factor receptor substrate 3 This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013] 6 6 p21.1 41845892 41855608 - 41737914 41747630 - 1580863;6480464 8761293;19204726;16702953;15738000;15489334;15485655;15188402;15094036;14574404;12586769;12477932;11877385;11432792;10629055;10383403;9660748;16169070;20228838;16341674;19322201;23279575 10817 A6PVU0;O43559 ABBA01050747;AF036718;AL365205;AMYH01016298;BC010611;BM741175;CH471081;CR457026;HY036161;NM_006653 AAB92555;AAH10611;ABM83001;ABM86194;CAG33307;EAX04060;NP_006644;O43559 Hs.194208 1803956;1807940;1808148;1810594;1812714;1821178;1822574;1823386;1827372;1828122;1828744;1831916;1839136;1839576;1840098;1845884;1979966;1979968;1979970;1979972;1979974;1979976;1979978;1979980;1979982;1979984;1979986;1979988;1979990;1979992;1979994;1979996;1979998;1980000;1980002;1980004;1980006;1980008;1980010;1980012;1980014;1980016;1980018;1980020;1980022;1980024;1980026;1980028;1980030;1980032;1980034;1980036;1980038;1980040;1980042;1980044;1980046;1980048;1980050;1980052;1980054;1980056;1980058;1980060;1980062;2109323;2216250;2216252;2216254;2216256;2216258;2216260 ECD02892;ECD04945;ECD05055;ECD06290;ECD07368;ECD11666;ECD12375;ECD12783;ECD14801;ECD15184;ECD15499;ECD17096;ECD20747;ECD20971;ECD21233;ECD24161;FRS3_9186;REN60874;REN60875;REN60876;REN60877;REN60878;REN60879;REN60880;REN60881;REN60882;REN60883;REN60884;REN60885;REN60886;REN60887;REN60888;REN60889;REN60890;REN60891;REN60892;REN60893;REN60894;REN60895;REN60896;REN60897;REN60898;REN60899;REN60900;REN60901;REN60902;REN60903;REN60904;REN60905;REN60906;REN60907;REN60908;REN60909;REN60910;REN60911;REN60912;REN60913;REN60914;REN60915;REN60916;REN60917;REN60918;REN60919;REN60920;REN60921;REN60922;stSG635003;stSG635004;stSG635005;stSG635006;stSG635007;stSG635008 FRS2-beta;FRS2B;FRS2beta;MGC17167;SNT-2;SNT2 FGFR substrate 3;FGFR-signaling adaptor SNT2;FRS2-beta;OTTHUMP00000016383;fibroblast growth factor receptor substrate 3;suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor) APPROVED protein-coding ENSG00000137218 16970 06373 607744 REVIEWED 1317842 FRS2 fibroblast growth factor receptor substrate 2 12 12 q15 68150396 68259829 + 69864129 69973562 + 1580863;6480464;6484113;6907045 9660748;9069267;7806500;9182757;10629055;16284401;19111446;19103595;18591461;18391951;18189271;17145761;16344560;15738000;15564375;15489334;15342556;12974390;12688531;12571252;12477932;12419216;12402043;12154000;11997436;11877385;11447289;11360177;11353842;11090629;10822386;10783152;10650943;10383403;10092678;9632781;8780727;8761293;11390647;12660731;19652666;9045692;21048031;21233699;15488758;22974441;21596750;17944804;21793095;22235335;20881960;22151832;23503679;12766061;16893902;21706016;23393200;15004239 10818 F8VP54;F8VS98;F8VW66;F8VX65;F8VYZ7;F8VZ12;F8VZI4;L7RTG7;Q8WU20 ABBA01026538;ABBA01026539;ABBA01026540;AC018921;AF036717;AK226068;AK312477;AMYH01004567;BC021562;BP217337;BP230333;BP280775;BP311537;BP363404;BU166503;BX647520;BX647544;CD677411;CH471054;DA189114;DA311708;DA721439;DA762876;DB081843;DR003634;EU332842;JX512443;NM_001042555;NM_001278351;NM_001278353;NM_001278354;NM_001278355;NM_001278356;NM_001278357;NM_006654 AAB92554;AAH21562;ABY87531;ADZ15382;AGC09590;BAG35381;EAW97225;EAW97226;EAW97227;NP_001036020;NP_001265280;NP_001265282;NP_001265283;NP_001265284;NP_001265285;NP_001265286;NP_006645;Q8WU20 Hs.593446 1334916;1339049;1667608;1687063;1723059;1733548;1768229;1788786;1856123;2130474;2151823;2171487 D12S1680;D12S1703;D12S885;G09517;RH121882;RH134714;RH47270;SGC33268;SHGC-35867;SHGC-36122;WI-14856;WI-21627 FRS2A;FRS2alpha;SNT;SNT-1;SNT1 FGFR signalling adaptor;FGFR substrate 2;FGFR-signaling adaptor SNT;OTTHUMP00000240937;OTTHUMP00000240941;fibroblast growth factor receptor substrate 2;suc1-associated neurotrophic factor target 1 protein-coding ENSG00000166225 16971 06372 607743 VALIDATED 5685708 FSBP fibrinogen silencer binding protein 8 q 95439940 95449180 - 11181995;15489334;20531236 100861412 J3KSW4;O95073 ABBA01037453;AC023632;AF007866;AF487652;AK074272;AMYH01018888;CH471060;NG_012878;NM_001256141 AAD09313;AAL96666;EAW91711;NP_001243070;O95073 Hs.30561 1735846 D8S1441E FLJ23692 fibrinogen silencer-binding protein protein-coding 43653 VALIDATED 1343697 FSCB fibrous sheath CABYR binding protein 14 14 14 q21.2 24834054 24837201 - 44043294 44046208 - 44973352 44976499 - 17855365;16381901;16344560;15489336;15489334;12477932;11230166;11076863;23251661 84075 Q5H9T9 ABBA01018037;AK124110;AK302615;AL136775;AL356022;AMYH01005698;BC039878;CH471078;CR933608;CR933626;DB036759;NM_032135 AAH39878;BAG54007;BAH13762;CAB66709;CAI45927;CAI45935;CAL37864;EAW65797;NP_115511;Q5H9T9 Hs.307086 1714979 RH120827 C14orf155;DKFZp434F1017;DKFZp686A1639;DKFZp686J0539 OTTHUMP00000178911;chromosome 14 open reading frame 155;fibrous sheath CABYR-binding protein protein-coding ENSG00000189139 20494 12638 611779 VALIDATED 1353389 FSD1L fibronectin type III and SPRY domain containing 1-like 9 9 9 q31 78715679 78816545 + 107250146 107351206 + 108210315 108311385 + 6480464 15342556;15164053;12477932;11267680;19448620;20800088;21832049;22318606 83856 B7Z3W5;C9JD05;F8W946;Q8N450;Q9BXM9 ABBA01042814;ABBA01042815;AF088031;AF316830;AK296433;AK299350;AK299491;AK309817;AL158070;AL161627;AMYH01021602;BC036746;BP219536;BP229804;BP365251;CH471105;CR936789;DN999402;NM_001145313;NM_031919;NM_207647 AAH36746;AAK26748;BAH12351;BAH13012;BAH13049;EAW59000;NP_001138785;NP_114125;NP_997530;Q9BXM9 Hs.136901 1685183;1689428;1714305;1723749;1760015;1786988;1787160;1849402;2112124;2122974;2137019;2158710 1828;D14S1301;D9S2105;RH118610;RH119933;RH1628;RH74830;SHGC-106420;SHGC-147055;SHGC-156126;STS-N20810;WI-14739 CCDC10;CSDUFD1;FSD1CL;FSD1NL;MGC45564;MIR1 FSD1 C-terminal like;FSD1 N-terminal like;FSD1 N-terminal-like protein;FSD1-like protein;OTTHUMP00000183453;OTTHUMP00000212556;OTTHUMP00000212557;OTTHUMP00000212558;OTTHUMP00000212559;coiled-coil domain containing 10;coiled-coil domain-containing protein 10;cystatin and DUF19 domain containing 1 protein-coding ENSG00000106701 13753 14641;16688 609829 VALIDATED 1348073 FSGS1 focal segmental glomerulosclerosis 1 7240710 9461087 10685 3962 603278 1347721 FSGS2 focal segmental glomerulosclerosis 2 7240710 10368108 10684 3963 603965 1346762 FSHMD1A facioscapulohumeral muscular dystrophy 1A 7240710 2489 3966 1319003 FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q25 77110012 77114632 + 79495417 79504156 + 1598962;1580863;6480464;7240710 11527955 10783262;18498068;18450588;17251446;16280978;15489334;14661542;14609921;12477932;10892848;10234509;8889549;19207554;19473443;20410808;21975552;20301590 25794 O14926 AA046878;AA059324;ABBA01032151;ABBA01032152;AC137896;AC139149;AF030165;AF066062;AF066063;AF066064;AF066065;AI189621;AMYH01008715;BC126295;BC130330;CH471099;NG_015964;NM_001077182;NM_012418 AAB86481;AAC18604;AAI26296;AAI30331;ADR83183;EAW89654;NP_001070650;NP_036550;O14926 Hs.118555 RFSN;RP30 OTTHUMP00000236019;OTTHUMP00000236020;fascin-2 APPROVED protein-coding ENSG00000186765 3960 06366 607643;607921 REVIEWED 1322704 FRZB frizzled-related protein The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010] 2 2 qter 183406982 183439743 - 183698002 183731498 - 1580863;6480464;7240710 9178261;21494614;22544526;8824257;9096311;19479880;19453261;19067193;18451162;18406176;17702698;17680269;17600823;17420170;17237116;17195216;16889986;16344560;15818669;15489334;15340161;15221014;15210948;12477932;10728394;9118218;17471511;18166153;12055200;18344084;20043861;20080650;20160027;20208569;20237151;21900206;23192594 2487 D9ZGF6;Q92765 ABBA01062301;AC105396;AC108514;AK130009;AK312741;AMYH01011319;AU117730;BC027855;BE549700;BF058813;BT019883;CH471058;HM015594;NG_017197;NM_001463;U24163;U68057;U91903 AAB51298;AAC50736;AAC51217;AAH27855;AAV38686;AAX93117;AAY24241;ABM81870;ABM85032;ADL14515;BAG35611;EAX10958;NP_001454;Q92765 Hs.128453 1756731;2140635;2151066;2151068;2156781;2156783 A005Z38;D2S2906;G20632;RH12577;SHGC-143852;WI-11019 FRE;FRITZ;FRP-3;FRZB-1;FRZB-PEN;FRZB1;FZRB;OS1;SFRP3;SRFP3;hFIZ OTTHUMP00000163420;frezzled;frizzled homolog-related;frizzled-related protein 1;sFRP-3;secreted frizzled-related protein 3 APPROVED protein-coding ENSG00000162998 3959 07282 165720;605083 REVIEWED 1349442 FSHMD1B facioscapulohumeral muscular dystrophy 1B 7240710 2490 3967 158901 1353847 FSCN3 fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 7 7 7 q31.3 122037417 122045564 + 127020925 127029079 + 127233689 127241851 + 1580863;6480464 10783262;15489334;12690205;12477932;11925108;8125298;17567994 29999 B4DU68;F8WDZ8;Q9NQT6;R4GN86 AACC02000001;ABBA01057684;AC000357;AC073934;AF281049;AK225867;AK300518;AK314050;AMYH01017911;BC035606;CH236947;CH471070;NM_020369 AAF91439;AAH35606;ABM82995;ABM86188;BAG36759;BAG62230;EAL24319;EAW83632;NP_065102;Q9NQT6 Hs.712692 1691804;1804788;1806892;1809496;1814436;1821340;1823682;1827238;1828464;1834268;2088830;2088832;2088834;2088836;2088838;2088840;2088842;2088844;2088846;2088848;2088850;2088852;2088854;2088856;2088858;2088860;2088862;2088864;2088866;2088868;2088870;2088872;2088874;2088876;2088878;2088880;2088882;2088884;2088886;2088888;2088890;2088892;2088894;2088896;2088898;2088900;2088902;2088904;2088906;2088908;2088910;2088912;2088914;2196932;2196934;2196936;2196938;2196940;2196942 AF047019;ECD03327;ECD04411;ECD05740;ECD08247;ECD11753;ECD12933;ECD14734;ECD15359;ECD18282;REN115674;REN115675;REN115676;REN115677;REN115678;REN115679;REN115680;REN115681;REN115682;REN115684;REN115685;REN115686;REN115687;REN115688;REN115689;REN115690;REN115691;REN115692;REN115693;REN115694;REN115695;REN115696;REN115697;REN115698;REN115699;REN115700;REN115701;REN115702;REN115703;REN115704;REN115705;REN115706;REN115707;REN115708;REN115709;REN115710;REN115711;REN115712;REN115713;REN115714;REN115715;REN115716;REN115717;stSG613726;stSG613727;stSG613728;stSG613729;stSG613730;stSG613731 OTTHUMP00000024553;fascin-3;testis fascin protein-coding ENSG00000106328 3961 17020 VALIDATED 1345798 FSD1 fibronectin type III and SPRY domain containing 1 This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009] 19 19 19 p13.3 627256 628117 - 4255691 4274838 + 4304591 4323843 + 6480464 16344560;14702039;12477932;12445389;12154070;11267680;16169070;18029348;21139048;21890473 79187 M0QY68;M0R1R0;M0R2F6;M0R366;Q9BTV5 ABBA01056080;AC008616;AF316829;AK021750;AK295523;AK303606;AK315661;AMYH01009329;AY032617;BC003124;BC016442;CA749067;CH471139;DA690632;NM_024333 AAH03124;AAK26747;AAK51145;ABM82759;ABM85946;BAB13885;BAG38027;BAG58437;BAG64621;EAW69236;EAW69237;EAW69238;NP_077309;Q9BTV5 Hs.28144 1678665;2160104 RH91102;WI-18176 GLFND;MGC3213;MIR1 MID1-related protein 1;fibronectin type 3 and SPRY (spla, ryanodine) domain containing (with coiled-coil motif) 1;fibronectin type 3 and SPRY domain containing 1;fibronectin type III and SPRY domain-containing protein 1;microtubule-associated protein GLFND;midline 1-related protein 1 APPROVED protein-coding ENSG00000105255 13745 17021 609828 REVIEWED 1315740 FSIP1 fibrous sheath interacting protein 1 15 15 15 q14 16655072 16838307 - 37679524 37862331 - 39892232 40075039 - 737633;6480464 12477932 14702039;12606363;20379614;20513247;21832049;23251661 161835 H0YNV9;Q8NA03 ABBA01038471;AC023908;AC037198;AK093308;AMYH01006555;AMYH01006556;AY260140;BC045191;BX642685;CH471125;NM_152597 AAH45191;AAP20066;ADZ16011;BAC04128;EAW92382;EAW92383;EAW92384;NP_689810;Q8NA03 Hs.129598 1710074;1715785;1750011;1765303;1858495;2111224;2117100;2186671 D15S480;RH119341;SHGC-111709;SHGC-148796;SHGC-23798;SHGC-83695;SHGC-9365;T15358 FLJ35989;HSD10 OTTHUMP00000160315;fibrous sheath-interacting protein 1 protein-coding ENSG00000150667 21674 08201 VALIDATED 1349045 FSP fibroblast secretory protein 2909392 2493 3970 1344433 FSCN1 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011] 7 7 p22 5598980 5612812 + 5632436 5646287 + 1580863;2317788;2317780;2317781;2317784;2317785;2317789;2317790;2317786;5131492;6480464 15626919;19721413;19556073;19259612;17696949;15136764;12109856;17419223;15380937 20366178;8647875;8068206;18029348;19340314;19133007;19115695;19061289;18776588;18716283;18599451;18587253;18343949;18283337;17671164;17638895;17510372;17473384;17255360;17029629;16977579;16533778;16049480;15882811;15671545;15489334;14702039;14535950;14532112;12902483;12789270;12592367;12477932;12139639;12100631;10783262;9565110;9558080;9033270;8999969;8970159;8579121;7933116;3886649;1602151;16169070;17353931;21319273;21323792;21900206;21975550;20634891;10026156;19483633;19657566;19729655;19738613;19741544;19759191;19818782;19819618;20001345;20056838;20137952;20701077;20434460;20596974;3525578;18851787;20819441;20713986;9571235;21300980;21498718;22730814;22939629;23252866;21390241;21258769;23184945;15161933;20360068;21223690;21771028;15451513;20160723;20851411;21351259;21475911;21618240;21491467;21914811;21937440;22076152;22128198;23156804;23209815;21139048;21906983;18781797;21089665;22005766;22110277;22586326;23393326;21764699;23030700;19738201;20888270;21565611;21963094;22304920;23000965;22883572;22784357;23633513 6624 B3KTA3;C9JFC0;C9JPH9;H7BYX5;J3KNT0;Q16658 ABBA01039470;ABBA01039471;ABBA01039472;AC006483;AK095254;AK095830;AK125295;AK316607;AMYH01017004;AY044229;BC000521;BC006304;BC007539;BC007643;BC007948;BC007988;BI546742;BT006636;BU629782;CH471144;HI574224;NG_030004;NM_003088;U03057;U09873 AAA62201;AAA86442;AAH00521;AAH06304;AAH07539;AAH07643;AAH07948;AAH07988;AAL01526;AAP35282;ABM82328;ABM85506;BAG38194;BAG53015;BAG53141;CBX47601;EAW87344;EAW87345;EAW87346;NP_003079;Q16658 Hs.118400 1298179;1676256;1725643;2107123;5037552 D7S2201;D8S2279;FSCN1__6758;G62033;RH28419 FAN1;FLJ38511;FLJ43305;HSN;SNL;p55 55 kDa actin-bundling protein;OTTHUMP00000115718;Singed, drosophila, homolog-like;actin bundling protein;fascin;singed-like (fascin homolog, sea urchin);singed-like protein APPROVED protein-coding ENSG00000075618 11148 04068 602689 REVIEWED 1346005 FSD2 fibronectin type III and SPRY domain containing 2 This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 15 15 15 q25.2 61105821 61152609 + 81225078 81271860 - 83428024 83474806 - 6480464 14702039;12477932;20966410;16344560 123722 A1L4K1;B7ZM02;H0YLA8 ABBA01029428;ABBA01029429;ABBA01029430;AC044907;AC105339;AK122875;AL833295;AMYH01006856;BC130569;BC144175;BC144181;DA826684;NM_001007122;NM_001281805;NM_001281806 A1L4K1;AAI30570;AAI44176;AAI44182;ADR83407;BAG53773;NP_001007123;NP_001268734;NP_001268735 Hs.719372 1337090;1644097;1687279;1856545;5014051;5015619;5037552;5093616;5118444 D11S3114;D11S3316;D15S811;D15S812;D8S2278;D8S2279;G32823;RH67515;STS-AA035565 RP11-127F21;SPRYD1 SPRY domain containing 1;SPRY domain-containing protein 1;fibronectin type III and SPRY domain-containing protein 2 protein-coding ENSG00000186628 18024 17291 REVIEWED 69084 FSHB follicle stimulating hormone, beta polypeptide The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 11 11 p13 30209139 30213400 + 30252563 30256824 + 1601221;1580863;6480464;6907045;7240710 8220432 14557487;14718574;19064572;18653705;18567894;18402948;18068163;17227474;17079072;17045735;16554811;16100240;15662415;15489334;15271874;14585810;12963710;12568861;12568849;12477932;12374801;12161499;11900895;11502795;11501762;11222739;11119757;11076863;10737800;10563789;10395410;10391209;9271483;7850869;6774759;4835136;3151250;3139991;2885163;2494176;1249074;20634197;18240029;19054012;19324968;19574343;19598235;19897680;12036966;20233786;14602737;20488225;20734064;4368999;12665510;19734592;21149714;20869425;23015653;22791757;20814826;21733993;22000911;23423746;21720063;23380184;23118424;23160221 2488 P01225;Q27RP3 ABBA01060940;AL358944;AMYH01003469;BC113488;BC113490;BI033915;CD108062;CH471064;DQ386645;DQ434892;EF198021;EF585489;EF585490;EU081884;M16646;M16647;M24540;M54914;NG_008144;NM_000510;NM_001018080 AAA52470;AAA52476;AAB02868;AAI11849;AAI13489;AAI13491;ABD46886;ABD84005;ABM88373;ABQ57401;ABQ57402;ABU96749;ADR83472;EAW68260;NP_000501;NP_001018090;P01225 Hs.36975 1742517;1850754;2113968;2133308 FSHB;GDB:197841;SHGC-35592;STS-M54914 FSH-B;FSH-beta;OTTHUMP00000232881;OTTHUMP00000232882;follicle-stimulating hormone beta subunit;follitropin beta chain;follitropin subunit beta;follitropin, beta chain APPROVED protein-coding ENSG00000131808 3964 00644 136530;229070 REVIEWED 735571 FSHR follicle stimulating hormone receptor The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 2 2 p21-p16 49043156 49235134 - 49189296 49381666 - 1580863;704404;1601232;1601234;1601236;2289157;6480464;7240710 7553856;9100567;12930928;11994539 1359889;9020851;15196694;10715554;19403562;19401323;19400992;19387820;19339009;19181441;19172541;19147210;19093296;19032691;19031050;19029293;19017414;18753112;18697861;18645675;18603647;18591890;18430895;18321487;18214954;18199880;18178196;18159088;18062861;17937064;17721928;17706202;17609213;17603635;17556863;17544358;17393121;17356048;17296182;17288166;17272391;17259794;17169197;17169182;17092637;17059863;17045735;17045734;17030088;16887887;16871362;16864747;16762186;16758348;16574671;16452461;16338864;16213843;16168216;16084888;16026410;15970792;15955888;15950638;15948771;15890674;15889138;15886248;15817654;15662415;15625767;15579795;15489334;15249125;15166252;15080154;15070827;15037410;14998941;14726491;14695976;14556822;12969700;12960054;12930927;12915623;12907758;12869592;12850288;12571157;12477932;12403847;12398222;12374801;12356937;12145341;12095499;12059813;12039074;11988313;11889179;11383926;10395410;10391209;10379886;9851774;9769327;9528938;9408742;8855829;8747461;8432542;8230163;7926278;7916967;1709010;21474127;22760496;1322283;1301382;22421444;17848411;21285318;19913121;20569270;20628086;20634197;20646572;20817169;18577758;12036966;20184506;22915343;21151128;20362966;20923822;20716560;20734064;20932654;20467586;19825393;16344560;18240029;19342032;19458022;19539204;19539911;19550076;19574343;19933466;20170288;20223709;20237833;20335500;20399696;20454649;20514429;21334319;22429116;21063764;21533219;20843821;20801186;21105990;22791757;21269619;20374735;22641019;21270425;21680247;21865747;21752882;21222045;21546300;22265040;21658000;22207559;22401810;21792664;22802634;22414334;22885925;23086931;23380184;22985950;22985084;23042261;23118426 2492 C9JDA1;F5GZW2;F8WBM4;G5E967;J3KQ00;P23945 ABBA01075199;ABBA01075200;AC007189;AC079394;AC092533;AK292562;AK301899;AK310367;AMYH01010339;AY429104;BC096831;BC118548;BC125270;CH471053;DB064473;JN003607;M65085;M95489;NG_008146;NM_000145;NM_181446;S59900;S73199;S73526;X68044 AAA52477;AAA52478;AAB26480;AAB32071;AAB32225;AAH96831;AAI18549;AAI25271;AAR07899;AAX88895;AAX93229;AEI86722;BAF85251;BAG63327;CAA48179;EAX00187;EAX00188;EAX00189;NP_000136;NP_852111;P23945 Hs.1428 1661558;1711268;1751269;2107125;2154382;2190597;5095199 Clen29;D2S2824;FSHR;FSHR__6759;RH69164;SHGC-105129;SHGC-89265 FSHRO;LGR1;MGC141667;MGC141668;ODG1 FSH receptor;OTTHUMP00000159573;OTTHUMP00000159574;OTTHUMP00000200511;follicle-stimulating hormone receptor;follitropin receptor APPROVED protein-coding ENSG00000170820 3969 00639 136435;233300;276400;608115 REVIEWED 1352008 FSIP2 fibrous sheath interacting protein 2 2 q32.1 186318512 186339521 + 1580863 14702039;12606363;12477932;11181995 285135 H0Y515;H7BZL6;Q0IJ58;Q5CZC0;Q8NAU3 AC007966;AC008174;AK092099;BC121088;BC121089;BC128052;BC148281;CH471058;CR936597;NM_173651 AAI21089;AAI21090;AAI28053;AAY14863;AAY15001;BAC03804;CAI56743;EAX10939;EAX10941;NP_775922;Q0IJ58;Q5CZC0;Q8NAU3 Hs.376600 1686430;1715815;2137206;5115198;5118342 D11S2442;D11S3206;D2S2069;RH119604;RH92115 FLJ34780 protein-coding 21675 08177 1602400 FSIP2 fibrous sheath interacting protein 2 2 2 2 q32.1 180199128 180293792 + 186378006 186406262 + 186603355 186698016 + 6480464 16751776;11181995;12477932;12606363;14702039;20379614;20877624 401024 H0Y515;H7BZL6;J3QTJ6;Q5CZC0;Q8NAU3 ABBA01062326;ABBA01062327;ABBA01062328;AC007966;AC008174;AK092099;AK126036;AK126051;AK126089;AK126104;AMYH01011329;BC121088;BC121089;BC128052;BC148281;BX647691;BX648733;CH471058;CR936597;DQ573063;NM_173651 AAI21089;AAI21090;AAI28053;AAY14863;AAY15001;BAC03804;BAC86406;BAC86432;BAC86442;CAI46017;CAI56743;EAX10939;EAX10940;NP_775922;Q5CZC0 Hs.98025 DKFZp781I24108;FLJ34780;FLJ44048;FLJ44063;FLJ44101;FLJ44116 FLJ44048 protein;OTTHUMP00000204537;fibrous sheath-interacting protein 2 APPROVED protein-coding ENSG00000188738 21675 13483 VALIDATED 1350076 FSTL6 follistatin-like 6 15527507 404757 18207 5686931 FTCD-AS1 FTCD antisense RNA 1 q22.3 100861507 AA905381;AI217733;AP001475 Hs.570448 APPROVED miscrna 40243 734008 FST follistatin Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008] 5 5 q11.2 52812352 52817680 + 52776264 52782304 + 737711;1601259;1580863;6480464;6484113;6907045 7885475;10411917 12697670;16198295;12702211;9828086;12514121;19470636;19453261;19346981;19106105;19011242;18319260;18245525;18184649;17644811;17347381;17296189;17284512;17053951;16935389;16627583;16150905;15489334;15472207;15340161;18001154;17893249;15296481;15064726;14578849;14563935;12720540;12651901;12531697;12477932;12242034;11948405;11580864;11232039;10702675;21496809;9799587;8836491;8536619;8288705;7887917;3380788;2036994;12099690;20628624;20634891;15451575;15574124;16336961;17991437;19597895;19740438;20093255;19520047;21068158;20734064;20926007;20623366;20801187;20843798;21350111;22416010;21829661;21222045;21900206;22395277;21846490;21900845;22809401;23010638;23023351;22685544;22693174;23249626;23304117 10468 H0YA75;H0YAF9;P19883 AB451330;AB451474;ABBA01015718;AC008901;AMYH01015084;BC004107;BQ941144;BQ949678;CH471123;CR541813;DR760015;M19481;NG_028911;NM_006350;NM_013409 AAA35851;AAH04107;ABM84359;ABM87744;BAG70144;BAG70288;CAG46612;EAW54880;EAW54881;EAW54882;EAW54883;NP_006341;NP_037541;P19883 Hs.9914 2113782;5091527 FST;SGC33112 FS OTTHUMP00000161829;OTTHUMP00000221842;OTTHUMP00000221843;activin-binding protein;follistatin;follistatin isoform FST317 APPROVED protein-coding 3971 00641 136470 REVIEWED 1348302 FSTL3 follistatin-like 3 (secreted glycoprotein) Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008] 19 19 p13 627389 634392 + 676389 683392 + 1580863;6480464 9671416;18617621;17959243;17868029;17671190;17395406;17296189;16935389;16627583;16338475;16150905;15527507;15489334;15451575;15340161;15130517;14739256;12975309;12970321;12531697;12477932;12397211;12194980;11948405;11571638;11459787;10737800;12697670;15574124;16336961;17878677;18768470;19740438;20007937;20063262;21829661;21963094;22915069;22395277;22052913;22122995;22568578 10272 K7EM71;K7ES54;O95633 ABBA01002580;AC004156;AC112708;AK291958;AK311521;AK311566;AK313341;AL050194;AMYH01009197;AMYH01009198;AY358917;BC005839;BC033119;BQ319646;BX439786;CH471242;NM_005860;U76702 AAC64321;AAH05839;AAQ89276;BAF84647;EAW61165;EAW61166;NP_005851;O95633 Hs.529038 1679575;1788802;1791115 REU1903;RH139332;RH16457 FLRG;FSRP follistatin-like protein 3;follistatin-related gene protein;follistatin-related protein 3 APPROVED protein-coding ENSG00000070404 3973 05632 605343 REVIEWED 1352933 FTH1P1 ferritin, heavy polypeptide 1 pseudogene 1 1 1 p34.3 36288154 36289049 + 37782651 37783746 + 38010164 38011059 + 6480464 3862645 2496 ABBA01023275;AL034379;AMYH01000501;NG_004768;NG_032170 FTHL1 APPROVED pseudo 3979 INFERRED 1353736 FTH1P10 ferritin, heavy polypeptide 1 pseudogene 10 5 5 5 p15.1 17379804 17380722 - 17406722 17407726 - 17353822 17354740 - 3862645;2821803 2502 ABBA01020695;AC026785;AMYH01014935;NG_003028 FTHL10 APPROVED pseudo 3980 INFERRED 1350488 FTH1P11 ferritin, heavy polypeptide 1 pseudogene 11 8 8 8 q21.13 78438717 78439630 - 82596332 82597217 - 82433755 82434668 - 3862645 2503 ABBA01004052;AC023644;AMYH01018830;NG_007332 FTHL11 APPROVED pseudo 3981 INFERRED 1347036 FTH1P12 ferritin, heavy polypeptide 1 pseudogene 12 9 9 9 p22.3 15460307 15461221 - 15516973 15517884 - 15526970 15527884 - 3862645 2504 ABBA01065277;AL513423;AMYH01019248;NG_007333 FTHL12 APPROVED pseudo 3982 INFERRED 1349879 FTH1P13 ferritin, heavy polypeptide 1 pseudogene 13 14 14 14 q23.3 46426570 46427246 - 65437403 65437919 - 66367492 66368168 - 2821803;2307464;3862645;3840162 646362 ABBA01023731;AL391261;AMYH01005806;NG_007334;U26556 FTHL13;FTHP3 APPROVED pseudo 3983 VALIDATED 4145187 FTH1P14 ferritin, heavy polypeptide 1 pseudogene 14 X X X p21.1 38292354 38293080 + 34074427 34075587 + 34165157 34165864 + 139431 ABBA01073355;AL591625;AMYH01022202;CH471074;NG_023176 EAW99069 hypothetical protein LOC139431 pseudo 39090 INFERRED 69033 FSTL1 follistatin-like 1 This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008] 3 3 q13.33 121595816 121652515 - 120113061 120169918 - 1299173;1580863;6480464 7957230 15621726;17029022;9786430;19109154;18796737;18718903;18617621;16344560;16335952;16256108;15638044;15489334;15340161;15296481;12477932;11150499;20080650;20347265;20860622;22117761;21718795;22265692;21303509;23395958;19060904;23251661 11167 B4DTT5;C9J5G4;H7C4W4;Q12841 AB119283;ABBA01061565;ABBA01061566;AC063952;AC078982;AF288537;AI813946;AK025860;AK289388;AK291138;AK300356;AK300436;AK311050;AK312261;AL050228;AMYH01013421;BC000055;BC017413;BX647421;CH471052;DB289587;NM_007085;U06863 AAA66062;AAH00055;AAK01083;BAD12167;BAF82077;BAF83827;BAG35192;BAG62097;BAG62160;EAW79526;EAW79527;NP_009016;Q12841 Hs.269512 1652584;1673277;1735298;1858159;2112610 D3S2939E;D3S3330;D3S4366;SHGC-77232;SHGC-77238 FLJ50214;FLJ52277;FRP;FSL1;MIR198 OTTHUMP00000215346;OTTHUMP00000215347;follistatin-like protein 1;follistatin-related protein 1 APPROVED protein-coding 3972 16120 605547 REVIEWED 1351165 FTH1P16 ferritin, heavy polypeptide 1 pseudogene 16 11 11 11 q13 74753014 74753931 - 77122995 77123929 - 77445360 77446277 - 3003694;1395714 2508 ABBA01017423;AMYH01003825;AP000609;AP002343;NG_007337;X03486 FTH2;FTHL16 APPROVED pseudo 3986 17023 VALIDATED 1344497 FTH1P18 ferritin, heavy polypeptide 1 pseudogene 18 X X X p21.1 41185590 41186068 - 36970869 36971682 - 37061118 37061596 - 7566098 441490 AA383232;ABBA01073635;AMYH01022209;BX842568;CH471074;HY046847;HY233350;NM_001271682 EAW99084;NP_001258611 Hs.744832 FTHL18 ferritin, heavy polypeptide-like 18 APPROVED protein-coding 3988 VALIDATED 1626261 FTH1P19 ferritin, heavy polypeptide 1 pseudogene 19 X X X p21.1 41488892 41489649 + 37235296 37249900 + 37351210 37351967 + 15772651 389844 P0C7X4 ABBA01047123;AC233283;AJ239329;AMYH01022210;NG_009569 P0C7X4 FTHL19 APPROVED pseudo 33525 INFERRED 1349262 FTH1P2 ferritin, heavy polypeptide 1 pseudogene 2 1 1 1 q42.13 202090338 202090797 + 226889682 226890249 + 228823167 228823626 + 3862645 2497 ABBA01013456;AL096776;AMYH01001805;NG_007330 FTHL2 APPROVED pseudo 3989 VALIDATED 1343216 FTH1P15 ferritin, heavy polypeptide 1 pseudogene 15 6 6 p12 58532476 58532751 + 56869325 56869600 + 8045562;3862645 2507 ABBA01050487;AL590037;AMYH01016369;NG_007335;U09960 FTHL15 APPROVED pseudo 3985 VALIDATED 1343535 FTH1P21 ferritin, heavy polypeptide 1 pseudogene 21 4 4 4 q32.1 154271404 154272329 + 157146871 157147882 + 156927408 156928332 + 9847074;7612929 2510 ABBA01070182;AC109352;AMYH01014637;NG_001121;U09962 FTHL21;FTHP2 APPROVED pseudo 3997 INFERRED 7245836 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like 2 q33.1 200625259 200715896 - 12477932;21573128;23303384 348751 E5RQL4 AB568489;ABBA01062507;ABBA01062508;AC073043;AMYH01011394;BC039445;BF431605;CH471063;NR_034096 BAJ46228;E5RQL4;EAW70188 Hs.734578 2127556;2179340 RH16249;SGC34873 FONG miscrna ENSG00000226124 48661 614308 VALIDATED 3077589 FTH1P22 ferritin, heavy polypeptide 1 pseudogene 22 1 1 115546212 115546701 - 117317700 117318189 - 100462772 ABBA01068494;AL135798;AMYH01000972;NG_022736 FTHL22 APPROVED pseudo 37640 INFERRED 3077556 FTH1P24 ferritin, heavy polypeptide 1 pseudogene 24 4 4 137799589 137800047 + 140467420 140467878 + 100462797 ABBA01069963;AC112236;AMYH01014571;NG_022082 FTHL24 APPROVED pseudo 37642 INFERRED 3362323 FTH1P20 ferritin, heavy polypeptide 1 pseudogene 20 2 2 q31.3 181445663 181446495 - 181737423 181738261 - 729009 ABBA01062280;AC104076;AC104820;AMYH01011314;NG_023542 1769801;1783994;1856948;2125554 FB22B6;SHGC-142470;SHGC-14594;STS-Z40760 FTHL20 APPROVED pseudo 37639 VALIDATED 3077544 FTH1P25 ferritin, heavy polypeptide 1 pseudogene 25 1 1 158151398 158151868 - 185040697 185041167 - 100462799 ABBA01027725;AL109865;AMYH01001561;NG_022745 FTHL25 APPROVED pseudo 37643 INFERRED 6769386 FTH1P23 ferritin, heavy polypeptide 1 pseudogene 23 3 72978193 72978745 + 100420300 ABBA01030957;AC114876;AMYH01013280;NG_025708 FTHL23 pseudo 37641 INFERRED 5131591 FTH1P26 ferritin, heavy polypeptide 1 pseudogene 26 6 133998026 133998539 - 100420303 ABBA01025869;AL078586;AMYH01016684;NG_028813 FTHL26 pseudo 37644 INFERRED 1344317 FTH1P4 ferritin, heavy polypeptide 1 pseudogene 4 3 3 3 q21.3 126915289 126916200 - 129965739 129966850 - 128483149 128484064 - 3862645 2499 ABBA01020911;AC139617;AMYH01013467;NG_004769;NG_008070 FTHL4 APPROVED pseudo 3991 INFERRED 1345882 FTH1P5 ferritin, heavy polypeptide 1 pseudogene 5 6 6 6 p12.3 52436155 52437060 - 50988102 50989027 - 50880263 50881175 - 6480464 2307464 2509 ABBA01050577;AL049693;AL136973;AMYH01016345;J04755;NG_005639 Hs.453583 5109777 D1S2060E FTHL5;FTHP1 APPROVED pseudo 3996 INFERRED 4145167 FTH1P27 ferritin, heavy polypeptide 1 pseudogene 27 X X p21.1 41502251 41502947 + 37364583 37365279 + 100270709 ABBA01047120;AC233283;AL627244;AMYH01022210;NG_009568 pseudo 39091 INFERRED 1347891 FTH1P7 ferritin, heavy polypeptide 1 pseudogene 7 13 13 13 q12.11 4332354 4333283 - 22168001 22168910 - 23270001 23270930 - 6480464 9116028;3862645 2500 ABBA01068625;AL354828;AMYH01004965;NG_007331 FTHL7 APPROVED pseudo 3994 INFERRED 1342654 FTH1P8 ferritin, heavy polypeptide 1 pseudogene 8 X X X q28 147485496 147486407 + 146941224 146942132 + 147133532 147134443 + 3862645 2501 ABBA01054139;AMYH01023182;L29074;NG_007336 FTHL8 APPROVED pseudo 3995 INFERRED 1346379 FTHL14 ferritin, heavy polypeptide-like 14 2821803 2506 3984 733688 FTCD formimidoyltransferase cyclodeaminase The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009] 21 21 21 q22.3 32668510 32687862 - 46380604 46399909 - 47556176 47575481 - 1580863;1300048;6480464;6907045;7240710 10029623;19048631;14759258;12815595;12477932;10830953;10773664;9677386;11278563;19913121;20628086;20634891;19161160;19204726;20209057;20494980 10841 B7WPK3;H7C315;O95954 AA719282;ABBA01021753;ABBA01021754;ABBA01021755;AF169017;AF289021;AF289022;AF289023;AF289024;AL109817;AMYH01012332;AMYH01012333;AMYH01012334;AP001101;AP001468;AP001473;AP001475;BC032037;BC052248;BC136383;BC136395;BI966164;BM021970;CH471079;NG_016191;NM_006657;NM_206965;U91541 AAD15627;AAF15558;AAG01852;AAG01853;AAG01854;AAG01855;AAH32037;AAH52248;AAI36384;AAI36396;EAX09308;EAX09309;EAX09310;EAX09311;EAX09312;EAX09313;EAX09314;EAX09315;NP_006648;NP_996848;O95954 Hs.415846 1681947;1696668;1772544;1790625;2162445 RH91534;SHGC-83008;SHGC-87722;SHGC-87730;STS_CEB252 LCHC1 OTTHUMP00000115563;OTTHUMP00000115564;OTTHUMP00000115565;OTTHUMP00000115566;formimidoyltransferase cyclodeaminase;formimidoyltransferase-cyclodeaminase;formiminotransferase-cyclodeaminase APPROVED protein-coding ENSG00000160282 3974 08430 229100;606806 REVIEWED 1316293 FSTL4 follistatin-like 4 5 5 5 q31.1 128660188 129071771 - 132560051 132976122 - 132532152 132948223 - 6480464 19023099;17975119;15527507;15489334;14702039;12477932;10470851;17554300;20379614;21987572;22384028 23105 D6RHU5;Q6MZW2 AB028984;ABBA01068775;ABBA01068776;ABBA01068777;ABBA01068778;ABBA01068779;AC005195;AC010307;AC010608;AC012614;AK026109;AK055684;AK056284;AMYH01015618;AMYH01015619;AMYH01015620;AMYH01015621;BC024300;BX640845;CH471062;NM_015082 AAH24300;BAA83013;BAG51665;CAE45915;EAW62291;EAW62292;NP_055897;Q6MZW2 Hs.483390 1661214;1662466;1667659;1700898;1706782;1708136;1721947;1740425;1740433;1748773;1763615;1775975;1780658;1780660;1780670;1780676;1780678;1780716;1780718;2138476;2138478;2140665 A005Z37;D5S1876;D5S2236E;D5S2242E;D5S2456;G20631;G59858;L28357;NIB2010;RH104076;RH45503;SHGC-110398;SHGC-147304;SHGC-80860;SHGC-81470;bac51535S;bac51535T;bac5155T;bac51578S;bac51579S;bac5177S;bac5177T OTTHUMP00000222585;follistatin-like protein 4;follistatin-related protein 4 protein-coding ENSG00000053108 21389 17022 VALIDATED 1350618 FTLP1 ferritin, light polypeptide pseudogene 1 20 20 20 q13.12 41315212 41316363 - 44037195 44038221 - 44603756 44604907 - 170514 ABBA01052673;AL162458;AMYH01011939;NG_001037;NG_029772 FTLP;bA465L10.3 APPROVED pseudo 16547 INFERRED 3129621 FTLP10 ferritin, light polypeptide pseudogene 10 4 4 4 q13.2 66510247 66537534 + 68730605 68760783 + 69048010 69078188 + 100130017 ABBA01022908;AC098799;AMYH01014250;AMYH01014251;AMYH01014252;AMYH01014253;AY885668;NR_015446 Hs.582037 1719893;5015619 D11S3114;RH123639 pseudo ENSG00000250426 37959 PROVISIONAL 3457134 FTLP11 ferritin, light polypeptide pseudogene 11 15 15 q13.1 6787557 6788269 - 29102932 29103644 - 100289501 ABBA01042010;AC174071;AMYH01006497;NG_023157 5022539 D15S535 pseudo 37960 INFERRED 3077558 FTLP12 ferritin, light polypeptide pseudogene 12 17 17 16197671 16198120 + 16294748 16295197 + 100462792 ABBA01035654;AC093484;AMYH01008148;NG_022455 pseudo 37961 INFERRED 3077571 FTLP13 ferritin, light polypeptide pseudogene 13 17 17 19864774 19865199 + 21747826 21748251 + 100462793 ABBA01006761;AC138761;AMYH01008270;NG_022463 pseudo 37963 INFERRED 3077557 FTLP14 ferritin, light polypeptide pseudogene 14 16 16 53365793 53366284 + 68856487 68856978 + 100462794 ABBA01025505;AC099314;AMYH01007763;NG_022524 5120582 GDB:361120 pseudo 37964 INFERRED 1315715 FSTL5 follistatin-like 5 4 4 4 q32.3 159637150 160417298 - 162524499 163304636 - 162305044 163085186 - 6480464 16344560;15527507;15489334;12477932;10574462;20379614;20966902;21911727;8358434 56884 Q8N475 AA350666;AB033089;ABBA01070244;ABBA01070245;ABBA01070246;ABBA01070247;ABBA01070248;ABBA01070249;ABBA01070250;ABBA01070251;ABBA01070252;ABBA01070253;AC023136;AC079227;AC084281;AC096717;AC104793;AC105251;AC108163;AK315152;AL137695;AMYH01014657;AMYH01014658;AMYH01014659;AMYH01014660;BC036502;BC036945;BC073978;BI549596;CH471056;DA243182;NM_001128427;NM_001128428;NM_020116 AAH36502;AAY40934;AAY40948;AAY41023;BAA86577;CAB70877;EAX04846;NP_001121899;NP_001121900;NP_064501;Q8N475 Hs.32452 1338646;1341954;1342236;1645592;1646041;1648000;1674644;1685938;1686716;1695908;1696630;1707742;1709908;1713421;1716927;1753567;1754805;1756221;1765169;1776906;1789088;1853337;2114276;2151179;2163766;2173161;2176481;2181616;5093430;7186907;7186911 AFM296vd1;D4S1028;D4S1598;D4S1626;D4S1653;D4S2419;D4S2658;D4S2843;D4S393;D4S928;G10392;G10628;G32713;G65679;RH119567;RH121839;RH35825;RH98482;SHGC-107459;SHGC-141721;SHGC-143090;SHGC-148680;SHGC-18462;SHGC-30815;SHGC-50424;SHGC-59701;SHGC-78864;SHGC-82087;SHGC-82942;SHGC-84804 DKFZp566D234;KIAA1263 OTTHUMP00000220147;OTTHUMP00000220198;OTTHUMP00000220199;follistatin-like protein 5;follistatin-related protein 5 protein-coding ENSG00000168843 21386 10998 VALIDATED 3077584 FTLP18 ferritin, light polypeptide pseudogene 18 1 1 35371646 35372123 + 37095936 37096413 + 100462786 ABBA01023293;AL080286;AMYH01000497;NG_022775 pseudo 37968 INFERRED 3302433 FTLP15 ferritin, light polypeptide pseudogene 15 7 7 7 p12.3 46136036 46136564 - 46003664 46005690 - 46037142 46037670 - 442304 AACC02000092;ABBA01058256;AC073115;AMYH01017224;CH236958;NG_022533 pseudo 37965 INFERRED 3231815 FTLP16 ferritin, light polypeptide pseudogene 16 X X 42481670 42482173 - 38344014 38344517 - 100420158 ABBA01047021;AF241726;AMYH01022211;NG_022590 pseudo 37966 INFERRED 3184433 FTLP17 ferritin, light polypeptide pseudogene 17 1 1 1 p21.1 102874689 102875269 - 104497674 104498254 - 104696151 104696731 - 23251661 642337 ABBA01028458;AC092506;AMYH01000867;CH471156;NG_023171 EAW51244 pseudo 37967 INFERRED 6481426 FTLP19 ferritin, light polypeptide pseudogene 19 10 16113415 16113808 - 100873960 ABBA01034579;AL359816;AMYH01002063;NG_032200 pseudo 37969 INFERRED 1353556 FTLP2 ferritin, light polypeptide pseudogene 2 X X X p21.2 34765704 34770507 + 30554060 30559016 + 30644139 30648942 + 392437 ABBA01072966;AC005913;AMYH01022192;NG_017087 2191701 MARC_5273-5274:996690236:1 FTLL2 APPROVED pseudo 4001 INFERRED 1606917 FTLP3 ferritin, light polypeptide pseudogene 3 20 20 20 p13 4066214 4067102 + 3952264 3953441 + 4004365 4005253 + 6480464 3754330;3032771;3000916;2821803 284764 ABBA01053843;AL031670;AMYH01011681;NG_002715 1658429;1690139;1777017;1851550;2191701 G01533;MARC_5273-5274:996690236:1;RH70278;SHGC-2666;SHGC-33021 FTLL1;dJ681N20.2 APPROVED pseudo 4000 INFERRED 3077588 FTLP6 ferritin, light polypeptide pseudogene 6 11 11 63866288 63866705 - 66538724 66539141 - 100462788 ABBA01024064;AMYH01003736;AP001157;NG_021790 1683259 RH65295 pseudo 37954 INFERRED 3322053 FTLP4 ferritin, light polypeptide pseudogene 4 9 9 9 p21.1 30863404 30864822 + 30924585 30926003 + 30934585 30936003 + 100129251 ABBA01065096;AL353745;AMYH01019315;NG_023019 pseudo 37952 INFERRED 3539546 FTLP5 ferritin, light polypeptide pseudogene 5 19 19 19 p13.3 3808374 3809787 + 3820267 3823111 + 3870792 3872205 + 100131661 ABBA01002852;AC093078;AMYH01009319;NG_022975 pseudo 37953 INFERRED 3077572 FTLP8 ferritin, light polypeptide pseudogene 8 13 13 79486614 79486890 - 98639203 98639479 - 100462790 ABBA01027154;AL356580;AMYH01005318;NG_021963 pseudo 37956 INFERRED 3077587 FTLP9 ferritin, light polypeptide pseudogene 9 4 4 75438958 75439405 - 78137572 78138019 - 100462780 ABBA01063371;AC008638;AMYH01014319;NG_022015 pseudo 37958 INFERRED 3436675 FTLP7 ferritin, light polypeptide pseudogene 7 11 11 11 q23.3 112564907 112565422 - 114914794 114915525 - 115409587 115410102 - 441623 ABBA01039760;AMYH01004048;AP003174;NG_021805 pseudo 37955 INFERRED 5688635 FTO-IT1 FTO intronic transcript 1 (non-protein coding) 16 q12.2 54073305 54074138 + 8889548 100505692 ABBA01066499;AC007347;AMYH01007676;NR_103838;XR_109302;XR_111575;XR_172161 Hs.664629 miscrna 43758 VALIDATED 6481182 FTOP1 fat mass and obesity associated pseudogene 1 2 43024365 43025852 - 100874223 ABBA01075078;AC098824;AMYH01010292;NG_032565 pseudo 43759 INFERRED 1347558 FTH1P3 ferritin, heavy polypeptide 1 pseudogene 3 2 2 2 p23.3 27462157 27463110 - 27468994 27469947 - 27615490 27616443 - 12477932;3862645 2498 ABBA01045204;AC074117;AMYH01010195;BC073777;NR_002201 Hs.658438 5109777 D1S2060E FTHL3;FTHL3P APPROVED pseudo 3990 PROVISIONAL 1347675 FTHL17 ferritin, heavy polypeptide-like 17 This gene is orthologous to a mouse gene that encodes a ferritin heavy polypeptide-like protein and shows testis-specific expression. [provided by RefSeq, Oct 2009] X X X p21 35216874 35217686 - 30999279 31000091 - 31089358 31090170 - 1580863;6480464 15489334;12704671;12477932;11279525;14531651;16929165;19812237 53940 Q9BXU8 ABBA01073011;AC006061;AF285592;AMYH01022194;BC069069;BC069538;BC100768;BC100769;BC100770;CH471074;NG_015850;NM_031894 AAH69069;AAH69538;AAI00769;AAI00770;AAI00771;AAK31971;EAW99060;NP_114100;Q9BXU8 Hs.333125 1789456;2109325;2110517;5492407;5493059 FTHL17_9773;G65765;MARC_37603-37604:1067540108:1;UniSTS:480947;UniSTS:484057 CT38 OTTHUMP00000023116;cancer/testis antigen 38;ferritin heavy polypeptide-like 17 APPROVED protein-coding ENSG00000132446 3987 02254 300308 REVIEWED 732498 FTH1 ferritin, heavy polypeptide 1 This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 11 11 q13 61488333 61491708 - 61731757 61735132 - 737708;632698;1580863;737792;2315110;6480464;6907045;7240710 11389486;9054589;10652280;18992754 11821435;16169070;9924025;6589621;19126685;19023418;18160403;17970701;17761032;17702748;17081983;17070541;16964243;15967798;15755449;15727900;15489334;15302935;14998975;14702039;14615048;12477932;12435735;12387819;11988076;11964300;11903046;11783942;10855793;10833524;9581019;9159481;8915895;8889548;8630420;7931301;7916709;7821789;7616228;7504084;6653779;6323167;3858810;3857215;3840162;3685996;3023856;3020541;3003694;1992356;659425;16189514;15607035;15388255;21385903;20390345;20705053;20936779;20877624;19821764;11031247;11252894;11591653;15123426;17116749;19539693;19855093;20088381;20110920;20133674;21674799;22676252;22843505;22939629;21029774;22863883;21555518;21573799;15604093;20360068;21413929;19910193;21800051;16969126;21139048;21890473;23324584;23463506;19471022;22675492;22768652;22020807;22043922;22117997;21829377;22426960;22443280;22779921;23119080;18985028;21988832;22760008;18621011;22212821 2495 E9PK45;E9PKM5;E9PKY7;E9PPQ4;E9PQR3;E9PRK8;G3V192;G3V1D1;P02794 AB062402;ABBA01003208;AF088851;AK311818;AMYH01003685;AP003733;AY258285;BC000857;BC001399;BC011359;BC013724;BC015156;BC015946;BC016009;BC016857;BC020300;BC035441;BC063514;BC066341;BC066961;BC070494;BC073750;BC104643;BC105802;BM971420;BQ887222;CH471076;D28463;DQ496108;L20941;M11146;M12937;M14212;M15383;M97164;NG_008346;NM_002032;X00318;X03487 AAA35830;AAA35832;AAA35833;AAA52437;AAA52438;AAA52479;AAF89523;AAH00857;AAH01399;AAH11359;AAH13724;AAH15156;AAH16009;AAH16857;AAH63514;AAH66341;AAH66961;AAH70494;AAH73750;AAI04644;AAI05803;AAP82230;ABF47097;ABM82039;ABM85219;BAA05829;BAB93489;CAA25086;CAA27205;EAW73989;EAW73990;EAW73991;EAW73992;EAW73993;EAW73994;EAW73995;EAW73996;EAW73997;EAW73998;EAW73999;EAW74000;EAW74001;NP_002023;P02794 Hs.524910;Hs.645560 1683419;1736692;1849750;1855697;5020623;5109777;5120153 D11S3983;D1S2060E;D1S2077E;G65764;GDB:197842;RH94224;STS-L20941 FHC;FTH;FTHL6;MGC104426;PIG15;PLIF OTTHUMP00000232197;OTTHUMP00000232244;OTTHUMP00000232245;apoferritin;cell proliferation-inducing gene 15 protein;ferritin H subunit;ferritin heavy chain;placenta immunoregulatory factor;proliferation-inducing protein 15 APPROVED protein-coding ENSG00000167996 3976 00615 134770 REVIEWED 1346340 FTL ferritin, light polypeptide This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008] 19 19 q13.33 54160378 54161948 + 49468566 49470136 + 1598966;1580863;5509860;5509861;5509840;5509863;5509864;5509859;5509839;6480464;6907045;7240710 9292547;18854324;19117339;15099026;19519778;22020773;17142829;11438811 20345975;20471030;16169070;7492760;8706699;19176363;18977241;18755684;18665827;18586377;18413574;18160403;18061976;17970701;17761032;17660802;17601350;17459943;16858508;16822677;16790936;16289162;16252260;16222695;16217041;16189514;16116125;15835264;15727900;15489334;15390032;15231748;15231747;14615048;12746423;12477932;12459518;12387819;12200611;12199804;12071855;11849230;11783942;11591653;10828006;10759702;10753629;10491119;9526618;9457670;9414313;9414300;9226182;9196065;9169099;9119260;8864140;8781450;8636399;8630420;8554925;8041631;7575610;7493028;6653779;6572903;3858810;3857215;3840162;3754330;3291676;3023856;3000916;22248276;2821803;659425;12646258;20689807;11031247;11252894;17116749;19254706;19318681;19781644;19787796;19923220;20088381;20159981;20381070;20301320;21139976;21029774;21541272;21555518;23029420;22863883;22939629;19910193;21800051;18624398;21907119;22348978;12401807;21139048;21906983;22117997;21696736;22359459;22535864;23119080;18486613;22760008;23275563;23300545;23463506;18621011;21103663;23080069 2512 Q9BTZ8 ABBA01032954;AC026803;AF147331;AK026534;AK130191;AK130205;AK131048;AK131050;AK131053;AK307065;AK311773;AMYH01009908;AY207005;AY466472;AY660755;BC002991;BC004245;BC008439;BC008441;BC013928;BC016346;BC016354;BC016715;BC018990;BC021670;BC058820;BC062708;BC067772;BX571748;CH471177;CR456715;DQ094830;DQ094831;M10119;M11147;M12938;NG_008152;NM_000146;X03742;X03743;Y09188 AAA35831;AAA52439;AAA52440;AAH02991;AAH04245;AAH08439;AAH13928;AAH16346;AAH16354;AAH16715;AAH18990;AAH21670;AAH58820;AAH62708;AAO52739;AAS45711;AAT66408;AAZ04399;AAZ04400;ABM83906;ABM87227;ACE86682;ACE87366;BAG34716;CAA27382;CAA27383;CAA27384;CAA70387;CAE11873;CAG32996;EAW52422;EAW52423;NP_000137;P02792 Hs.433670;Hs.728304 1338063;1682551;1683259;1690139;1744299;1777017;1851550;2191701;5124805 D19S886;GDB:451601;MARC_5273-5274:996690236:1;RH65295;RH70278;RH70352;RH79582;SHGC-2666;SHGC-33021 MGC71996;NBIA3 ferritin L subunit;ferritin L-chain;ferritin light chain;ferritin light polypeptide-like 3;neurodegeneration with brain iron accumulation 3 APPROVED protein-coding ENSG00000087086 3999 00616 134790;600886;606159 REVIEWED 1348564 FTMT ferritin mitochondrial 5 5 q21.3 121215549 121216427 + 121187650 121188528 + 1580863;6480464;6907045 11323407;18160053;18815198;18805796;18372207;18325346;18076382;17565989;17459943;16797877;16537925;16448386;15755449;15489334;15201052;15065877;12547228;12477932;12406866;11953424;22706241;20369475;20526373;20877624;20939738;19585161;19816198;23573868;21616139;21799823;21712541 94033 Q8N4E7 ABBA01068962;AC117523;AMYH01015581;BC034419;CH471086;HC007000;HC044675;NM_177478 AAH34419;ADR83312;CBH19305;CBH30667;EAW48901;NP_803431;Q8N4E7 Hs.105324 1689733 RH92503 MTF OTTHUMP00000159158;ferritin H subunit;ferritin heavy chain-like;ferritin, mitochondrial;mitochondrial ferritin protein-coding ENSG00000181867 17345 12316 608847 VALIDATED 1625089 FTO fat mass and obesity associated This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011] 16 16 q12.2 52295376 52705882 + 53737875 54148379 + 6480464;7240710 20865646;21175269;21220935;21741858;22030988;22083549;21917193;22187296;22189543;22435707;21398525;22396042;22377712;22109280;22234326;22516774;22693455;18948966;18855084;18853134;18846049;18842783;18839134;18838977;18833210;18799002;18794893;18787525;18779467;18775698;18719664;18698412;18694974;18682847;18663371;18647953;18616701;18599522;18598350;18597214;18591388;18583465;18572014;18551112;18551109;18550552;18535549;18516622;18487448;18478198;18477659;18469204;18454148;18445669;18437351;18426866;18426861;18379722;18372903;18347269;18346983;18339204;18336062;18335027;18316358;18281390;18256137;18252780;18251005;18249188;18239580;18218107;18212765;18159244;18055244;18048838;17996046;17991826;17959933;17942823;17928989;17928949;19625203;19602701;19587359;19584900;19559399;19557197;19553294;19553259;19543202;19542184;19497595;19491387;19470880;19375760;19373445;19329528;19322589;19278366;19265514;19259258;19255736;19224890;19214238;19180072;19169064;19164386;19158205;19153581;19151714;19139842;19079261;19079260;19073975;19056611;19053021;19030008;19020324;19016587;19008344;19005641;19002430;18991055;18984664;18984658;17804762;17658951;17657473;17554300;17496892;17463249;17463248;17434869;16344560;14702039;12477932;11214970;10501967;9110174;8889549;8619474;8358434;17917711;21544081;20571754;20616199;20616309;19913121;20616607;20628085;20628086;20650268;20702506;20703240;20717169;20733583;20733585;20811910;20816195;20821366;20598163;21248310;20813088;20819567;19798072;20647405;20712903;20724581;20725061;20734064;20816152;20843981;20863147;20879858;20889853;20929593;20945952;20945953;20966902;20975729;20976066;21037115;21063808;20339516;20858286;20948226;21102462;20935630;19396169;19668254;19679263;19687793;19692490;19720844;19726594;19741467;19746409;19793853;19794065;19812171;19818665;19828706;19833889;19833892;19859840;19862325;19876004;19880856;19906786;19910641;19913856;19918250;19933996;20003232;20007308;20009087;20031593;20031594;20051647;20057365;20075150;20075932;20090391;20092643;20161779;20181787;20186840;20203524;20215397;20299471;20337217;20351740;20362563;20368485;20373279;20376003;20377915;20379142;20379614;20386550;20397748;20400278;20404173;20409671;20418190;20421936;20430937;20442772;20467478;20490451;20502638;20503258;20509872;20511725;20520848;20581827;20943749;21146673;21098976;21179003;21154332;21150882;21552555;21207518;21094029;21266646;21544599;22265018;22863883;22791637;23134754;22443257;22504289;22857884;22891219;22421923;23341774;22591707;22931202;23136261;22141579;21317302;21489227;21706003;21182554;21246032;21283731;21379325;21411553;21458110;21651756;21842748;21687707;21438147;21637715;22049296;21593801;21720422;22153534;22189607;22486287;21349207;21814223;21818152;21868005;21913894;22179955;22457394;21869491;21443588;22311015;22466342;22132335;22901973;23236435;23455637;21796137;21921652;21935397;21986706;21989907;22069379;23201545;23342142;22016090;22454631;22675492;21919686;22002720;22084931;21799482;23201753;21347432;22125610;21720444;22248259;22344221;22399527;22606913;21598006;21720911;21798115;21890473;21906983;22589738;21788373;22763110;22842737;22385136;22675562;22222230;23160181;23251365;23359686;21963094;23000965;23461169;22865603;23155422;23155456;22310469;23300277;22982992;23154192;23209189;21186106;22421893;22724641;22797368;22817777;22836643;21491999;22490751;22847851;21162833;23111453;23284729;23284998;22956599;23258813;23142383;21502950;22311283;22503908;23130628;23091647;22801903 79068 B3KU60;B4DHN4;F8WCB8;Q99770;Q9C0B1 AB051539;ABBA01066498;ABBA01066499;ABBA01066500;ABBA01066501;AC007347;AC007496;AC007909;AK096554;AK295196;AMYH01007676;AMYH01007677;BC001284;BC003583;BC030798;BC132892;BC137091;CH471092;DA324897;NG_012969;NM_001080432;U79260 AAB50206;AAH03583;AAH30798;AAI32893;AAI37092;AAI48443;AAI53033;BAB21843;BAG53322;BAG58196;EAW82811;NP_001073901;Q9C0B1 Hs.528833 1654351;1660052;1662414;1667047;1687896;1708002;1728165;1738559;1738597;1766033;1780422;1852386;2120012;2127150;2147589;2160595;2167070;2186861;5022578 D16S2577E;D16S2729;D16S2748;D16S2971;D16S2986;D16S3246;D16S471E;D1S1423;G63505;RH48882;RH65144;SHGC-149420;SHGC-3070;SHGC-52812;SHGC-60773;SHGC-60860;SHGC-61171;SHGC-84665;STS-AA005225 KIAA1752;MGC5149 OTTHUMP00000213475;alpha-ketoglutarate-dependent dioxygenase FTO;fat mass and obesity-associated protein;protein fto APPROVED protein-coding 24678 610966;612938 REVIEWED 2312697 FTX FTX transcript, XIST regulator (non-protein coding) X X q13.2 73531450 73796874 - 73247971 73513409 - 12045143;14702039;12477932;21118898;21254562 100302692 ABBA01059584;ABBA01059585;ABBA01059586;ABBA01059587;ABBA01059588;ABBA01059589;ABBA01059590;ABBA01059591;ABBA01059592;ABBA01059593;ABBA01059594;ABBA01059595;ABBA01059596;ABBA01059597;ABBA01059598;ABBA01059599;ABBA01059600;ABBA01059601;ABBA01059602;ABBA01059603;ABBA01059604;ABBA01059605;ABBA01059606;ABBA01059607;ABBA01059608;ABBA01059609;ABBA01059610;ABBA01059611;ABBA01059612;ABBA01059613;ABBA01059614;AC004386;AK057701;AK311345;AL139400;AL359740;AL627389;AMYH01022611;AMYH01022612;AMYH01022613;BC016373;NR_028379;Z83843 Hs.349570 1338510;1652681;1655626;1662091;1663450;1668639;1671755;1673261;1680102;1701700;1701992;1702242;1702582;1852215;1856605;1857395;2121526;2134195;2139364;2148538;2151527;2155416;2175900;2183439;5037552;5093482;7184739;7186913 A009P32;AFM352tf5;D8S2279;DXS1103E;DXS1166;DXS1680;DXS7025E;DXS7030E;DXS7741;DXS8060;DXS8066;DXS8361;G31131;G31455;G32744;RH18206;RH36104;RH46387;RH64973;RH65903;RH68565;SHGC-32393;SHGC-33275;SHGC-33546;SHGC-34600;WIAF-2551 FLJ18387;LINC00182;MIR374AHG;NCRNA00182 APPROVED miscrna ENSG00000230590 37190 VALIDATED 1314273 FTSJ2 FtsJ RNA methyltransferase homolog 2 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008] 7 7 7 p22 2243616 2251525 - 2240452 2248359 - 2273926 2281833 - 1359074;1580863;6480464 11827451 15489334;12477932;10049595;20877624;22990118;20972266;21890473;22688191;23000965;23453885 29960 E7ETL2;E9PGN6;Q9UI43 AACC02000053;ABBA01039362;AC004971;AC005282;AF093415;AK024635;AK302060;AMYH01016968;BC017106;BC017181;BC114514;BC114564;CH236953;CH471144;CR749618;NM_013393 AAF22488;AAI14515;AAI14565;BAG63450;CAH18412;EAW87223;EAW87224;NP_037525;Q9UI43 Hs.279877 1659116 SHGC-32279 DKFZp686J14194;FJH1;MRM2 FtsJ homolog 2;MRM2 RNA methyltransferase homolog;OTTHUMP00000025484;cell division protein FtsJ;protein ftsJ homolog 2;putative ribosomal RNA methyltransferase 2;rRNA (uridine-2'-O-)-methyltransferase APPROVED protein-coding ENSG00000122687 16352 06067 606906 REVIEWED 1345273 FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] X X p11.23 48219493 48229696 + 48334549 48344752 + 1580863;6480464;7240710 19012053;18401546;18081026;17333282;15772651;15489334;15342698;15162322;14702039;12801724;12477932;10648622;10398246;8288232;1605216;21145461;19615732;17207965;21832049;23000965;21139048;21890473 24140 B3KN91;B7Z4K4;Q9UET6 ABBA01046003;ABBA01046004;ABBA01046005;AF063015;AF196972;AJ005892;AK024023;AK297486;AK315138;AMYH01022290;BC021047;BC023584;CH471224;NG_008879;NM_012280;NM_177434;NM_177439 AAC33734;AAH23584;ADQ32209;BAG37587;BAG51253;BAH12590;CAA06749;EAW50782;EAW50783;EAW50784;NP_036412;NP_803183;NP_803188;Q9UET6 Hs.23170 1663766;1667175;1850115;2109327;2112858 DXS9853E;FTSJ1__6761;G30997;WI-13354;WI-13805 CDLIV;JM23;MRX44;MRX9;SPB1;TRM7;TRMT7 2'-O-ribose RNA methyltransferase TRM7 homolog;FtsJ homolog 1;OTTHUMP00000025795;OTTHUMP00000025796;cell division protein;protein ftsJ homolog 1;putative ribosomal RNA methyltransferase 1;putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase;rRNA (uridine-2'-O-)-methyltransferase;tRNA methyltransferase 7 homolog APPROVED protein-coding ENSG00000068438 13254 06568 300499;309549 REVIEWED 1350454 FUCA1P1 fucosidase, alpha-L- 1, tissue pseudogene 1 2 2 2 q31-q32 171271553 171273037 - 177377270 177379297 - 177669183 177670667 - 8504303;1977129 2518 ABBA01062225;AC092162;AMYH01011295;M80816;NG_001122 FUCA1P APPROVED pseudo 4007 INFERRED 1316109 FTSJ3 FtsJ homolog 3 (E. coli) Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008] 17 17 17 q23.3 56284914 56293152 - 59250525 59258188 - 61896793 61905031 - 1580863;6480464 17081983;16964243;16565220;16189514;15635413;15489334;14702039;12477932;12429849;17353931;21182205;22939629;12938929;19471022;21139048;21890473;21903422;22178446;21628590;22195017;22586326;21145461;22505724;22952844 117246 J3KRY4;J3KS36;J3KS74;J3QKT6;J3QR05;J3QRS5;J3QSE2;Q8IY81 ABBA01035319;AC015651;AF147378;AF327355;AK000069;AK095861;AK296715;AK307398;AK315010;AL834482;AMYH01008549;BC000131;BC036710;BM914774;CH471109;NM_017647 AAH00131;AAH36710;AAL56015;ABM83247;ABM86449;BAA90924;BAG37502;BAG59305;CAD39141;EAW94273;EAW94274;EAW94275;NP_060117;Q8IY81 Hs.463785 1683645;1686304;1736658;1756001;2163682;2189395 A007J39;D17S1492E;MARC_4113-4114:991938380:3;RH75315;RH80617;SHGC-142815 EPCS3;FLJ20062;SPB1 2'-O-ribose RNA methyltransferase SPB1 homolog;SPB1 RNA methyltransferase homolog;pre-rRNA processing protein FTSJ3;protein ftsJ homolog 3;putative rRNA methyltransferase 3;rRNA (uridine-2'-O-)-methyltransferase 3 APPROVED protein-coding ENSG00000108592 17136 17024 REVIEWED 1351437 FUNDC1 FUN14 domain containing 1 This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011] X X X p11.3 48519971 48539287 - 44267847 44287160 - 44382885 44402221 - 737633;6480464 12477932 18957941;16341674;15772651;15489334;11329013;21139048;22267086 139341 Q8IVP5 ABBA01046353;ABBA01046354;ABBA01046355;ABBA01046356;AL022163;AL136137;AMYH01022241;BC035015;BC042813;BG213042;BM837991;CH471141;NG_021288;NM_173794 AAH35015;AAH42813;ADZ15998;EAW59371;NP_776155;Q8IVP5 Hs.7549 1701922;1772822;2161870 DXS7952;DXS8207;WI-16570 MGC51029 FUN14 domain-containing protein 1;OTTHUMP00000023173 APPROVED protein-coding ENSG00000069509 28746 06658 300871 REVIEWED 1604200 FUNDC2P1 FUN14 domain containing 2 pseudogene 1 5 5 5 q13.2 68699726 68700832 + 72840092 72841417 + 72804434 72805540 + 220793 ABBA01061918;AC099522;AMYH01015406;NG_005087 2179484 STS-AA002210 FUNDC2P APPROVED pseudo 17253 INFERRED 1315934 FUK fucokinase The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55014116 55039795 - 69045999 69071678 + 70488498 70514177 + 737633;1580863;6480464;6907045 12477932 12056818;15489334;14702039;12975309;21906983;21963094;23251661 197258 B4DEU5;I3L106;I3L171;I3L1X0;I3L3J1;J3KSP6;J3KTP6;Q8N0W3 ABBA01010661;AC012184;AC106804;AJ441184;AK056456;AK074168;AK092025;AK096727;AK123470;AK128387;AK293794;AK315590;AMYH01007784;AY358187;AY829643;BC013735;BC032542;CH471241;NM_145059 AAH13735;AAH32542;AAQ88554;AAV67949;ABM84278;ABM87670;BAB71190;BAB84994;BAC04852;BAC87413;BAG37962;BAG57206;CAD29647;EAW51814;EAW51815;EAW51816;EAW51817;NP_659496;Q8N0W3 Hs.7907 1736588;1778382;2136450 D16S2583E;D16S2587E;RH44544 1110046B12Rik;FLJ39408 L-fucose kinase;OTTHUMP00000082728;OTTHUMP00000082729 APPROVED protein-coding ENSG00000157353 29500 16365 608675 REVIEWED 1344155 FUBP1 far upstream element (FUSE) binding protein 1 This gene encodes a ssDNA binding protein that activates the far upstream element (FUSE) of c-myc and stimulates expression of c-myc in undifferentiated cells. Regulation of FUSE by FUBP occurs through single-strand binding of FUBP to the non-coding strand. This protein has been shown to function as an ATP-dependent DNA helicase. [provided by RefSeq, Jul 2008] 1 1 p31.1 78186179 78217365 - 78413591 78444777 - 1580863;6480464 17353931;8125259;18029348;19219071;19165527;19015535;19003864;16964243;16672220;16628215;16289162;16169070;15592455;15489334;15302935;15146197;12819782;12477932;12176931;11875576;11239393;11222755;11071946;11003644;10882074;10734235;15502847;21145461;21319273;22588899;20420426;19087307;19585652;19637194;16159877;20802533;21367899;22863883;21817013;22939629;16196087;19928837;21855647;19738201;21963094;21988832;22304920;22623428;23000965;21779003;21139048;21890473;21906983;19322201;15161980;17676665;22505724;22869205 8880 B4DT31;C9JSZ1;E9PEB5;Q96AE4 AB209366;ABBA01074393;AC096948;AK300032;AK301581;AK303568;AMYH01000723;BC010083;BC017247;BQ649331;CH471059;CN291186;NG_033243;NM_003902;U05040 AAA17976;AAH10083;AAH17247;ABM86845;ABW03830;BAD92603;BAG61843;BAG63073;BAG64590;EAX06356;EAX06357;EAX06358;NP_003893;Q96AE4 Hs.567380 1666115;1666117;1692620;1781718;2138898;2156911;2218774;5022691;5114653 AL034068;D1S257E;D1S3413;FUBP1;FUBP1_2823;SHGC-155233;SHGC-75032;SHGC-75042;SHGC-75049 FBP;FUBP DNA helicase V;FUSE-binding protein 1;OTTHUMP00000038482;OTTHUMP00000038483;OTTHUMP00000038510;far upstream element binding protein;far upstream element-binding protein 1;hDH V APPROVED protein-coding ENSG00000162613 4004 10349 603444 REVIEWED 1315940 FUBP3 far upstream element (FUSE) binding protein 3 9 9 9 q34.11 103993491 104052272 + 132444781 132503560 + 133454960 133513739 + 6480464 21145461;17474147;8940189;18391950;15489334;12477932;16713569;19087307;20379614;20211142;21832049;22939629;21549307;21890473;21906983;16009940;21628590;22586326;20881960;22863883;19738201;22504420;22623428;23000965;23275563;22505724 8939 Q96I24 ABBA01012052;AK057958;AK295155;AL353695;AL359092;AL537190;AMYH01021770;AMYH01021771;BC001325;BC007874;BC015184;BC041566;BC137338;BC137340;BI461266;CH471090;NM_003934;U69127 AAC50893;AAH01325;AAH07874;AAI37339;AAI37341;BAG58170;EAW87937;EAW87938;NP_003925;Q96I24 Hs.673029;Hs.98751 1338087;1680280;1728697;1786942;5014051;5016478;5020946;5022200;5022588;5037552 D5S1597E;D8S2278;D8S2279;D9S1863;G63720;GDB:434012;L17971;L18426;RH94097;SHGC-142433 FBP3;FLJ25229 FUSE-binding protein 3;OTTHUMP00000022369;far upstream element-binding protein 3 protein-coding ENSG00000107164 4005 603536 VALIDATED 2802019 FUNDC2P4 FUN14 domain containing 2 pseudogene 4 22 22 22 q13.1 23353584 23354144 + 37881594 37882050 + 39551541 39552101 + 100127979 ABBA01055552;AL031846;AMYH01012775;NG_022878 pseudo 37971 INFERRED 735673 FUCA1 fucosidase, alpha-L- 1, tissue The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009] 1 1 p34 24044154 24067408 - 24171567 24194859 - 704404;1598969;1580863;2315931;2315947;2315946;2315949;2315945;2315932;2315943;2315944;6480464;7240710 2642067;16176171;3924473;3751446;7304074;3609421;10353622;8343614;1451959 8401503;11698403;19064572;18217416;17133604;16773698;16710414;15489334;14702039;12477932;12408193;11549468;11389735;10094192;9781852;9762612;8673729;8504303;21145461;8399358;8125298;8097260;7874128;7827138;7815431;6096099;4074382;4052017;3817676;3780313;2983333;2894306;2803312;2174090;2012122;1281988;19615732;19782187;17207965;20800603;21832049;22990118;18654987;22763966 2517 B5MDC5;P04066 AB074175;ABBA01059887;ABBA01059888;AK092914;AK095443;AK095455;AK225468;AK295535;AK301302;AK310143;AK314649;AL590728;AMYH01000365;BC017338;BX956202;CH471134;DC397571;M10355;M29877;M80815;NG_013346;NM_000147;X01390 AAA35519;AAA52481;AAA52482;AAH17338;ADQ32636;BAC04002;BAE45738;BAG37210;BAH12098;BAH13453;CAA25646;EAW95098;NP_000138;P04066 Hs.370858 1694918;1743959;1744657;1744661;2138775;2183915;5017508 D1S3248;FUCA1;G44348;GDB:378606;GDB:549178;GDB:549184;RH69114 FUCA OTTHUMP00000003009;alpha-L-fucosidase 1;alpha-L-fucosidase I;alpha-L-fucoside fucohydrolase 1;tissue alpha-L-fucosidase APPROVED protein-coding ENSG00000179163 4006 01974 230000;612280 REVIEWED 3436551 FUNDC2P3 FUN14 domain containing 2 pseudogene 3 6 6 q24.3 147232814 147233596 + 146492426 146493208 + 14702039 644625 ABBA01025723;AL592423;AMYH01016727;NG_022375 FLJ37060 pseudo 37970 INFERRED 1349988 FUSE polykaryocytosis promoter 2522 4011 1344103 FUCA2 fucosidase, alpha-L- 2, plasma This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010] 6 6 q24 143857935 143874556 - 143815949 143833020 - 1580863;6480464 11389735;18521898;16303743;15489334;14574404;12975309;12477932;6590153;1951444;21145461;15342556;8344670;20800603;19666478;17207965;21890473;22268729 2519 Q7Z6V1;Q7Z6V2;Q9BTY2 ABBA01025747;AK075458;AK296485;AK315475;AL031320;AMYH01016721;AY358551;BC003060;BC051268;BG719318;BP214015;BX537633;CA412923;CH471051;NG_027676;NM_032020 AAH03060;AAH51268;AAQ88915;ADQ32368;BAC11633;BAG59123;EAW47865;NP_114409;Q9BTY2 Hs.17680 1656291;1686666;2109329;2174725 A006N25;FUCA2_8358;RH98954;STS-T95834 MGC1314;RP1-20N2.5;dJ20N2.5 OTTHUMP00000017331;alpha-L-fucosidase 2;alpha-L-fucoside fucohydrolase 2;plasma alpha-L-fucosidase APPROVED protein-coding 4008 00649 136820 REVIEWED 1351400 FUNDC2 FUN14 domain containing 2 X X X q28 154413800 154443906 + 153908258 153938385 + 154255064 154285191 + 737633;6480464 12477932 11256614;16381901;15489336;15146197;14702039;12665903;11076863;8889548;16169070;21900206;21139048;21890473;21906983;22645275 65991 H7C0K8;Q9BWH2 ABBA01029107;ABBA01029108;ABBA01029109;ABBA01029110;ABBA01029111;AF267862;AF320778;AI886036;AJ272054;AK091092;AK313143;AMYH01023322;AY032594;BC000255;BC072685;BC108657;BI463291;BM713884;BU738737;BX470111;CH471172;CN306694;NM_023934 AAG44731;AAH00255;AAH72685;AAI08658;AAK51136;AAN51931;BAG35962;CAC81242;CAL38105;CAL38413;EAW72643;EAW72644;NP_076423;Q9BWH2 Hs.356050 1805322;1810026;1812164;1813314;1813874;1816698;1824718;1825044;1833192;1834824;1838870;1840002;1840528;1842196;1842392;1844224;1846152;2103122;2103124;2103126;2103128;2103130;2103132;2103134;2103136;2103138;2103140;2103142;2103144;2103146;2103148;2103150;2179484 ECD03608;ECD06005;ECD07087;ECD07678;ECD07963;ECD09392;ECD13457;ECD13623;ECD17738;ECD18560;ECD20614;ECD21185;ECD21451;ECD22301;ECD22399;ECD23325;ECD24296;STS-AA002210;stSG604407;stSG604408;stSG604409;stSG604410;stSG604411;stSG604412;stSG604413;stSG604414;stSG604415;stSG604416;stSG604417;stSG604418;stSG604419;stSG604420;stSG604421 DC44;FLJ33773;HCBP6;HCC3;MGC131676;MGC2495;PD03104 FUN14 domain-containing protein 2;HCC-3;OTTHUMP00000015441;cervical cancer oncogene 3;cervical cancer proto-oncogene 3 protein;hepatitis C virus core-binding protein 6 protein-coding 24925 06586 VALIDATED 1603147 FUNDC2P2 FUN14 domain containing 2 pseudogene 2 2 2 2 p11.2 84344703 84346222 + 84371317 84372835 + 84517806 84519324 + 12477932;21906983 388965 ABBA01075718;AC097458;AMYH01010489;BC067852;CH471053;NR_003663 EAW99560 Hs.664098;Hs.744643 MGC39809 APPROVED pseudo ENSG00000182814 17247 18390 PROVISIONAL 1322512 FUOM fucose mutarotase 10 10 10 q26.3 128345999 128348870 + 135018648 135021519 - 135168658 135171529 - 6480464 15146197;12477932;16385451;17602138;19524593 282969 A2VDF0 ABBA01006213;AK129527;AK310070;AL360181;AMYH01003237;BC129818;BC129819;BX119427;CH471211;CN368132;NM_001098483;NM_198472 A2VDF0;AAI29819;AAI29820;BAC85178;EAW61337;EAW61338;NP_001091953;NP_940874 Hs.155823 1779066 RH70279 C10orf125;FLJ26016;FUCU;FucM;MGC149258 OTTHUMP00000020801;OTTHUMP00000020802;fucose mutarotase;protein fucU homolog APPROVED protein-coding ENSG00000148803 24733 12564 VALIDATED 737372 FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Jul 2008] 19 19 q13.3 53943080 53950459 - 49251268 49258647 - 1580863;6480464;6907045 2118655;11698403;19137814;18374127;18205178;18155296;18023290;17922418;17459061;16331565;15847661;15489334;15487706;15476160;15146197;22053055;12697902;12652076;12477932;12366770;10330445;9760178;9745152;9299444;9226185;9122901;9054453;7912436;7768954;7656588;1763885;18686606;19572973;21060863;20506485;21983725;16490787;22161108;21839020;21926972;23063462;23372041 2523 P19526;Q6IZA2 AB004859;AB004860;AB004861;AB004862;AB004863;AB006136;ABBA01032968;AC009002;AF455028;AJ276886;AMYH01009908;AY611628;AY780784;AY923051;BC074732;CH471177;CN359119;D87935;D87936;D87937;D87938;D87939;D87940;D87941;DQ092446;DQ321370;FJ665616;FM162557;FM180557;M35531;NG_007510;NM_000148;Z69587 AAA52639;AAH74732;AAL57863;AAT42242;AAV51818;AAW82437;AAY96648;ABC59307;ACN41952;BAA20556;BAA20557;BAA20558;BAA20559;BAA20560;BAA28952;CAA93435;CAC81751;CAQ56300;CAQ81977;EAW52399;NP_000139;P19526 Hs.69747 1795870;2160404;2177866;2185178;2220250;5022578;5022651;5024039;5037552;5111349;5127927;7186908 D11S2921;D16S325;D19S596;D1S1423;D8S2279;FUT1;FUT1_318;G15901;RH78937;SHGC-152310;SHGC-35310;STS-M35531 H;HH;HSC 2-alpha-L-fucosyltransferase;GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1;alpha (1,2) fucosyltransferase;alpha(1,2)FT 1;blood group H alpha 2-fucosyltransferase;fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase);galactoside 2-alpha-L-fucosyltransferase 1 APPROVED protein-coding ENSG00000174951 4012 07186 211100 REVIEWED 1323167 FURIN furin (paired basic amino acid cleaving enzyme) The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can efficiently cleave precursor proteins at their paired basic amino acid processing sites. Some of its substrates are: proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene is thought to play a role in tumor progression. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q26.1 89212889 89227691 + 91411885 91426687 + 1582622;1580863;1582625;2315952;6480464;6484113 15756593;16541018;19594364 8615794;15082773;8940009;14744861;10567353;15899807;16912035;8262946;17010968;16537537;15078902;19541935;19492430;19193799;19152512;19056739;18826955;18546152;18544638;18467449;18323532;18245819;18174282;18064302;18037384;17948127;17938254;17909005;17905609;17905608;17641413;17477394;17360815;17283058;12787574;16942750;16648485;16627761;16407210;15911696;15659365;15637056;15611046;15606899;15584904;15564468;15489334;15371436;15247425;15240540;14741044;14739277;14644155;14596804;12736257;9653148;9642263;9599222;9442015;9412467;9242664;9166946;8995623;8846780;8546712;8174106;8020465;7782070;7781597;7737999;7721880;7690548;7508380;3023061;2674906;2408021;2251280;2112085;1741956;1713771;1629222;1571548;16600625;12354117;12071862;11921231;11861826;10452538;10225274;9521771;9094426;8670066;8189547;8163529;7774724;7639757;15135058;12670890;12644459;12586364;12584323;12547702;12482870;12477932;12460941;12411321;12220680;12058067;12058031;12006600;11861638;11804956;11723118;11571266;11422372;11416205;11380615;11331585;11323410;11294867;11237874;11071887;10900462;10888676;10887202;10593987;10373500;10050053;9927419;9827567;9695949;1360148;20608975;10037747;19477160;19998449;20062797;20101215;19913121;20628086;20707915;20605791;20634490;20945401;21296375;20811902;21147780;23135270;20635860;21406565;22808247;22995191;21550985;21503879;21880759;21890473;10526337;22247010;23568742;21889147;21909115;19322201;22038627;22479394;22577343;21988832;23000965;23558288;17301129;17525470;18353966;18665212;20055586;22505724 5045 H0YKB2;H0YLH7;H0YNB5;P09958 A06939;ABBA01053069;ABBA01053070;AC124248;AMYH01006923;AMYH01006924;BC008295;BC012181;CH471101;NM_002569;S65442;S72615;X04329;X15723;X17094 AAB28140;AAH12181;CAA00605;CAA27860;CAA33745;CAA34948;EAX02111;EAX02112;NP_002560;P09958 Hs.513153 1712318;2116475;2161089;2217342;5094843 FURIN;FURIN_659;G06349;G54068;RH1636 FUR;PACE;PCSK3;SPC1 FES upstream region;OTTHUMP00000194747;dibasic processing enzyme;dibasic-processing enzyme;furin, membrane associated receptor protein;paired basic amino acid residue-cleaving enzyme;proprotein convertase subtilisin/kexin type 3 APPROVED protein-coding ENSG00000140564 8568 00653 136950 REVIEWED 735764 FUT11 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 10 10 10 q22.2 68815227 68819145 + 75202055 75205983 + 75532049 75535977 + 6480464 19088067;14702039;12477932;11698403;21963094 170384 Q495W5 ABBA01020309;AC022400;AK095482;AK314944;AMYH01002830;BC036037;BC100994;BC100995;BC100996;BC100997;CH471083;NM_173540 AAH36037;AAI00995;AAI00996;AAI00997;AAI00998;ABM85304;ABW03711;BAG37450;EAW54518;EAW54519;NP_775811;Q495W5 Hs.588854 1661790;1686532;1796732;1851664;2141782 D10S2187;RH25307;RH44071;SEC24C_392;WI-18926 MGC119338;MGC119339;MGC33202 OTTHUMP00000019832;alpha-(1,3)-fucosyltransferase 11;alpha3-fucosyltransferase 11;fuc-TXI;fucT-XI;fucosyltransferase XI;galactoside 3-L-fucosyltransferase 11 protein-coding ENSG00000196968 19233 13555 VALIDATED 1354084 FUT10 fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 8 8 8 p12 32177762 32280374 - 33347884 33450206 - 33228342 33330664 - 1580863;6480464 11698403;19088067;14702039;12477932;12370785;20379614 84750 Q6P4F1 ABBA01023611;ABBA01023612;ABBA01023613;ABBA01023614;ABBA01023615;AC067838;AC091144;AJ431184;AJ512465;AJ535838;AJ535839;AJ582015;AK056199;AK098505;AK292993;AK297132;AK303231;AMYH01018631;BC004884;BC063462;CH471080;NM_032664 AAH04884;AAH63462;BAF85682;BAG59636;BAG64318;CAD24023;CAD54669;CAD59771;CAD59772;CAE46499;EAW63401;EAW63402;EAW63403;EAW63404;NP_116053;Q6P4F1 Hs.458713 1668668;1668670;1758099;2109331;5106047;5118278 AB046050;D13S985;FUT10__6763;HSCZXF072;SHGC-147403;WI-18671 MGC11141 OTTHUMP00000225460;OTTHUMP00000225461;OTTHUMP00000225462;alpha 1,3-fucosyl transferase;alpha-(1,3)-fucosyltransferase 10;fuc-TX;fucT-X;fucosyltransferase X;galactoside 3-L-fucosyltransferase 10 protein-coding ENSG00000172728 19234 VALIDATED 735387 FUT2 fucosyltransferase 2 (secretor status included) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.3 53891040 53901019 + 49199228 49209191 + 6480464;6907045;7240710 7876235;11698403;19303062;19169360;18997004;18803289;18776911;18422843;18067503;17922418;17805536;17760744;17054072;16514298;16344560;16306606;16168124;16008680;15809881;15757249;15487706;15476160;15338364;15250822;12692541;12673421;12645255;12477932;12164325;11916003;11806852;11777923;11606829;11535550;11323419;9760207;9745152;9299444;9219535;8755920;8621666;7876234;7656588;17655580;17537929;22068912;22053055;22471454;1763885;20533259;20565774;20570966;21060863;20172014;19440360;19487333;19572973;19625176;19692168;19757028;20000042;20197723;20514537;21102463;20800603;20852008;20971884;20506485;21056528;20880207;21256510;21040203;22664149;22672431;21625510;21725903;22025780;23002346;22237057;22188519;22025362;20686565;21886157;21926972;22001757;22367966;22266267;23128233;23251661;23300138;23372041;23065099;22521342;23075394;23201895 2524 A8K2L2;E7EW73;Q10981 AB000931;AB032485;AB032486;AB034980;ABBA01032972;ABBA01032973;AC008888;AK290277;AMYH01009907;AY751739;AY817671;AY937240;BC001899;BC121066;BE266792;BT006657;CH471177;D87942;D87945;D89326;D89327;DA918525;DQ321371;FM180560;FM180562;FM180563;FM180564;NG_007511;NM_000511;NM_001097638;U17894 AAC24453;AAP35303;AAU47383;AAV65715;AAX14047;ABC59308;BAA13943;BAA13944;BAA21684;BAF82966;CAQ81980;CAQ81982;CAQ81983;CAQ81984;EAW52379;NP_000502;NP_001091107;Q10981 Hs.579928 1677706;5015961;5022450;5022578;5022588 D10S275;D15S1477;D1S1423;D5S1597E;RH76300 B12QTL1;SE;SEC2;Se2;sej GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2;OTTHUMP00000226681;OTTHUMP00000226682;alpha (1,2) fucosyltransferase;alpha(1,2)FT 2;alpha(1,2)FT2;fucosyltransferase;galactoside 2-alpha-L-fucosyltransferase 2;secretor blood group alpha-2-fucosyltransferase;secretor factor APPROVED protein-coding ENSG00000176920 4013 01629 182100;612542 REVIEWED 1318882 FUS fused in sarcoma This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009] 16 16 p11.2 31098954 31110601 + 31191431 31206192 + 1580863;5509913;5509906;5509900;5509901;5509902;5509905;6480464;7240710 20332486;21658743;22055719;21908872;21847626;21677541 20621307;20720006;9264461;8510758;9774382;12226669;18029348;19369647;19303844;19251628;19251627;19037998;18850010;18648544;18620564;18167354;17721195;17468515;16651630;16230076;16215946;15988032;15782174;15688424;15635413;15489334;15299008;15286712;12915480;12581738;12477932;12169268;12168660;11850402;11438536;11278855;10862698;10779324;10567410;10442642;9795213;18509338;9660765;9478924;9440806;21541368;21327980;21541367;22460799;8921363;8187069;7987849;7503811;2372777;18954305;16169070;12183049;17353931;22878663;20224596;20606625;20624952;20577002;20660363;20668259;20668261;22292843;20232451;20385912;21169411;21280085;16365397;20864052;12830400;12840784;12858291;15975576;16344560;17196963;19450904;19669651;19674978;19741215;19741216;19841068;19861302;19965854;20017906;20018407;20061612;20124201;20142531;20472325;20517935;20544928;19922450;20863376;16055720;20699327;20236174;21187067;20886222;20499220;21158017;21128870;21261515;22968170;23048034;23232809;23249733;21487023;21344536;21403029;20138404;21452073;21160488;21399449;21536545;21408206;17765891;19135240;21752791;21856723;20360068;21604077;21182205;22863883;22939629;21956718;19967541;21725888;21915790;21881207;21909421;21732477;17332742;21139048;21693764;21890473;21906983;21956701;22178446;21603978;21949354;21965298;22240165;23023293;22363618;20301623;22443542;18632687;21883376;22493728;22563080;21792670;22586326;22674379;22863194;22388756;22340366;23041957;23152885;23389473;23056579;22755220;19946338;21145461;21319273;22778397;16713569;22057404;23049996;22842875;22961620;19738201;20085233;21988832;22623428;22751105;22833456;23000965;23151878;23246001;22980027;23046583;22412018;23172909;23455922;23455924;22995304;22459602;23200923;21943958;22118902;23046859;19380743;22053931;22174317;22797925;22941224;22982887;22710833;22934129 2521 H3BNZ4;H3BPE7;P35637;Q13344;Q6IBQ5 AB208902;ABBA01042085;AC009088;AF071213;AI333366;AK098774;AK130774;AK290936;AK299129;AK301110;AMYH01007504;AW408771;AW514140;BC000402;BC002459;BC026062;BC051293;BT007131;BX423519;CH471192;CR456747;DA541747;DC361263;GU933437;NG_012889;NM_001170634;NM_001170937;NM_004960;NR_028388;R07006;S62140;U00942;U36561;X71428 AAA79948;AAB27102;AAC35284;AAC35285;AAH00402;AAH02459;AAH26062;AAP35795;ABM82631;ABM85808;BAD92139;BAF83625;BAG61182;BAG62709;CAA50559;CAG33028;EAW52150;EAW52151;EAW52152;NP_001164105;NP_001164408;NP_004951;P35637 Hs.46894 1337425;1338621;1339622;1680108;1680186;1682257;1685333;1687357;1689179;1739639;2111396;2127609;5015861;7185938 D10S16;D16S2534E;D16S3002E;D16S3137;D16S3354;D16S415;D16S419;RH65013;RH69682;RH79829;RH80052;RH80219;RH91447 ALS6;CHOP;ETM4;FUS-CHOP;FUS1;HNRNPP2;POMP75;TLS;TLS/CHOP;hnRNP-P2 75 kDa DNA-pairing protein;OTTHUMP00000163228;RNA-binding protein FUS;fus-like protein;fusion gene in myxoid liposarcoma;heterogeneous nuclear ribonucleoprotein P2;oncogene FUS;oncogene TLS;translocated in liposarcoma protein APPROVED protein-coding 4010 00660 137070;608030;614782 REVIEWED 1348340 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 19 19 19 p13.3 5804795 5809509 - 5816837 5821551 - 5865837 5870551 - 1580863;6480464;6907045 11698403;1339443;17148576;14601054;10622713;7782074;7650030;1740457;20677162;12477932;19349624;22619806;21978830 2527 K7ENC0;Q11128 ABBA01055985;ABBA01055986;AC024592;AMYH01009367;BC140905;CH471139;M81485;NM_002034;U27329;U27330 AAA98117;AAC50188;AAC50189;AAI40906;EAW69134;NP_002025;Q11128 Hs.631843 2181664 RH79134 FUC-TV alpha (1,3) fucosyltransferase;alpha-(1,3)-fucosyltransferase;fucT-V;fucosyltransferase V;galactoside 3-L-fucosyltransferase protein-coding ENSG00000130383 4016 00650 136835 VALIDATED 1342617 FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009] 11 11 q21 93916775 93922712 + 94277017 94283064 + 1580863;6480464;6907045 16712791;21457163;21931765;22566498;11698403;1716630;19185848;18085638;18023290;17662271;17556010;17409497;16842926;15579466;15182935;12738675;12477932;11006292;9756916;9186069;8889548;8287679;8116567;7782074;7508745;3305706;1718983;1702034;22145955;22287018;19572148;20458727;21337384;20506505;16884686;19546439;19725119;20181261;20605574;20965272;21521691;23681114;21635204;21857669;22411914;22084431;22691873 2526 P22083 AA029661;AA029722;ABBA01040026;AF305083;AMYH01003965;AP000943;BC041922;BC136373;BC136374;BE242611;BQ232971;CA315021;CB123990;CB140063;CH471065;M58596;M58597;M65030;NM_002033;R48692;S65161 AAA63172;AAA63173;AAA92977;AAB20349;AAI36374;AAI36375;EAW66938;NP_002024;P22083 Hs.390420;Hs.572064;Hs.623098 1673374;1698634;1771504;2115754;2162929;5015961;5022588;5037552 D11S4334;D15S1477;D5S1597E;D8S2279;FUT4;RH102874;RH17863;STS-M58596 CD15;ELFT;FCT3A;FUC-TIV;FUTIV;LeX;SSEA-1 ELAM ligand fucosyltransferase;ELAM-1 ligand fucosyltransferase;Lewis X;OTTHUMP00000236888;alpha-(1,3)-fucosyltransferase;fucT-IV;fucosyltransferase IV;galactoside 3-L-fucosyltransferase;stage-specific embryonic antigen 1 APPROVED protein-coding ENSG00000196371 4015 00083 104230 REVIEWED 1351938 FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 5793899 5802485 - 5842899 5851485 - 1580863;6480464;6907045 1977660;19175549;19169360;19137814;18977761;18974842;18953356;18803289;18205178;17383304;17054072;16800951;16427187;16344560;16239964;16199102;16168124;16097066;16008680;15832169;15639866;15639865;15489334;15338364;15331092;14977360;14687237;12730721;12673421;12493760;12477932;12424536;12164325;11819805;11698403;11668626;11535550;10816554;10394050;10089211;9703429;9268337;8943285;8889548;8801770;8240337;8240322;8219240;8063716;7961897;7916594;7656588;7650030;1740457;19913121;20628086;21203500;19349624;19572973;19715603;20003467;20179215;20197723;20514537;20833389;12668675;20605574;21542140;21978830 2525 A8K737;K7ENT3;K7EQ20;K7ES24;P21217 AB043998;ABBA01055986;AC024592;AF131913;AK291852;AK313575;AMYH01009367;AY849570;AY870341;BC074836;BC074837;BC108675;BM671165;CH471139;D89324;D89325;DA876997;DA930897;DB200655;FM164935;FM164936;FM180567;NG_007482;NM_000149;NM_001097639;NM_001097640;NM_001097641;S52874;U27326;U27327;U27328;X53578 AAC50185;AAC50186;AAC50187;AAD33514;AAH74836;AAH74837;AAI08676;AAW34365;BAA13941;BAA13942;BAA96390;BAF84541;BAG36347;CAA37641;CAQ68512;CAQ68513;CAQ81987;EAW69135;NP_000140;NP_001091108;NP_001091109;NP_001091110;P21217 Hs.169238 1744495;1776312;2159116 GDB:461091;RH79133;SHGC-35418 CD174;FT3B;FucT-III;LE;Les;MGC131739 Lewis FT;alpha-(1,3/1,4)-fucosyltransferase;blood group Lewis alpha-4-fucosyltransferase;fucosyltransferase;fucosyltransferase III;galactoside 3(4)-L-fucosyltransferase APPROVED protein-coding ENSG00000171124 4014 00196 111100 REVIEWED 1344316 FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 14 14 q24.3 64947593 65279715 + 65877310 66210839 + 1580863;6480464;6907045 11698403;9133635;17488527;16344263;14568171;14514715;12477932;12438718;11093814;10814706;10764839;10580126;10343104;9368041;9110174;8619474;2829950;2649653;2542563;2541446;2187500;19179362;20379614;16344560;17157329;17172260;18553167;18754874;18854874;19302290;19508951;20466647;20684602;21228108;21203500;20802204;22939629;21652057;22011814;23144326;23251661;23382691;18215327;18314154;18330979;22190034 2530 A8K8P8;G3V443;G3V4A8;G3V509;G3V530;G3V5E3;G3V5Z4;G3XAD2;Q546E0;Q8IUA5;Q9BYC5 AB032573;AB049740;AB049828;ABBA01018393;ABBA01018394;ABBA01018395;ABBA01018396;ABBA01018397;AF052088;AJ514324;AJ514325;AJ536053;AJ536054;AJ536055;AJ536056;AJ539535;AJ539536;AK292413;AK294242;AL109847;AL161871;AL355840;AL359236;AMYH01005805;AMYH01005806;BC025385;BC093889;BC101816;BC142958;BQ962258;BX107537;CH471061;D89289;DB089189;GM744701;HB446569;NM_004480;NM_178155;NM_178156;NR_038167;NR_038170;Y17976;Y17977;Y17978;Y17979 AAH93889;AAI01817;AAI42959;BAA19764;BAA92858;BAA92859;BAB40929;BAB40975;BAF85102;BAG57538;CAA76985;CAA76986;CAA76987;CAA76988;CAD55804;CAD55805;CAD59924;CAD59925;CAD59926;CAD59927;CAD62444;CAD62445;CAV31713;CAZ91290;EAW80911;EAW80912;EAW80913;EAW80914;EAW80915;EAW80916;EAW80917;NP_004471;NP_835368;NP_835369;Q9BYC5 Hs.597649;Hs.654961 1645068;1656881;1675148;1726321;1739989;1749869;1758267;1777437;1783104;1795876;2115247;2143774;2168380;2176376;2186136 D14S1281;D14S1313;D14S1337;D14S666E;D14S842;D22S1128;FUT8_667;G35488;G35717;G36050;G62461;RH69309;SHGC-111596;SHGC-147853;SHGC-155335 MGC26465 GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase;GDP-fucose--glycoprotein fucosyltransferase;OTTHUMP00000183477;OTTHUMP00000183478;OTTHUMP00000245299;OTTHUMP00000245301;OTTHUMP00000245302;alpha-(1,6)-fucosyltransferase;alpha1-6FucT;glycoprotein 6-alpha-L-fucosyltransferase APPROVED protein-coding ENSG00000033170 4019 03994 602589 REVIEWED 1350852 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 5781637 5790742 - 5830637 5839742 - 1580863;6480464;6907045 11698403;18274891;17054948;16344560;14702039;14514715;12670495;12477932;11530205;10900002;10536043;8175676;8125298;7782074;7656588;7650030;1520296;1339443;19913121;20628086;20179215;19349624;21203500;20965272;22155250;22367966;23300138 2528 E9PI36;E9PJ18;E9PJB4;E9PP56;E9PS22;P51993;Q6P7E6 ABBA01055986;AC024592;AF131211;AK098073;AK225795;AK313130;AMYH01009367;BC061700;CH471139;DA426469;DA622182;DA628976;L01698;M98825;NG_007505;NM_000150;NM_001040701;U27331;U27332;U27333;U27334;U27335;U27336;U27337 AAA99222;AAB03078;AAC50190;AAC50191;AAC50192;AAC50193;AAC50194;AAC50195;AAC50196;AAD33509;AAH61700;BAG35950;EAW69136;EAW69137;EAW69138;EAW69139;NP_000141;NP_001035791;P51993 Hs.631846;Hs.705615 1678183;1769487;1795872;5015619;5037552;5118444 D11S3114;D11S3316;D8S2279;FUT6_663;RH80293;SGC35572 FCT3A;FLJ40754;FT1A;Fuc-TVI;FucT-VI OTTHUMP00000235735;OTTHUMP00000235736;OTTHUMP00000235737;OTTHUMP00000235739;OTTHUMP00000235740;OTTHUMP00000235741;alpha-(1,3)-fucosyltransferase;fucosyltransferase VI;galactoside 3-L-fucosyltransferase APPROVED protein-coding ENSG00000156413 4017 00651 136836;613852 REVIEWED 1353646 FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008] 9 9 q34.3 139044447 139047283 - 139924626 139927292 - 1580863;6480464;6907045 11698403;8207002;18452157;18402946;17760744;17436081;17229154;16482509;15926890;15579466;15489334;15464988;15262995;15164053;12506041;12477932;11825883;8051184;11425803;11404359;9592127;9147044;8626519;8182079;20428816;19851296;20198315;21197561;21890473 2529 Q11130 AB012668;ABBA01022737;AK313124;AL807752;AMYH01021886;BC032357;BC074746;BC086312;NG_007527;NG_011789;NM_004479;U08112;U11282;X78031 AAA20468;AAA56869;AAH74746;AAH86312;BAA32819;BAG35944;CAA54962;NP_004470;Q11130 Hs.457 1792768;1795874;2163150;5492663 FUT7_665;PMC16366P1;STS-X78031;UniSTS:481955 FucT-VII OTTHUMP00000022654;alpha-(1,3)-fucosyltransferase;fuc-TVII;fucosyltransferase VII;galactoside 3-L-fucosyltransferase;selectin ligand synthase;selectin-ligand synthase APPROVED protein-coding ENSG00000180549 4018 03611 602030 REVIEWED 6892853 FUT8-AS1 FUT8 antisense RNA 1 14 q23.3 65877310 65879335 - 12477932;14702039 645431 ABBA01018393;AK094893;AL359236;AMYH01005805;BC028147;BC045750;BX098734;BX161387;CH471061;NR_024334 BAC04452;CAD61877;EAW80918 Hs.713717 1783104;2143774 RH69309;SHGC-155335 APPROVED miscrna 44294 VALIDATED 1602203 FUZ fuzzy planar cell polarity protein This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.33 47179576 47186020 - 55001961 55008280 - 50310123 50316567 - 6480464;7240710 16493421;16189514;12477932;16712791;21840926;21761479 80199 C9JR36;E9PK12;E9PKJ4;E9PLA3;E9PS25;G5E9A4;M0QYI7;M0QYX9;M0QZY8;M0R0M0;M0R1D4;Q9BT04 ABBA01032909;AC006942;AK026341;AK057964;AK295072;AK315445;AMYH01009918;BC004445;BC010092;BC016793;BU073247;CB152506;CH471177;NG_032843;NM_001171937;NM_025129;NR_033269 AAH04445;AAH10092;AAH16793;BAB15454;BAG37833;BAG58119;EAW52538;EAW52539;EAW52540;EAW52541;EAW52542;EAW52543;NP_001165408;NP_079405;Q9BT04 Hs.288800 1687868;1728923;2109043;2126116 AP2A1__4334;Ap2a1;RH75669;STS-AA031950 FLJ22688;FY;NTD OTTHUMP00000235602;OTTHUMP00000235603;OTTHUMP00000235604;OTTHUMP00000235606;OTTHUMP00000235608;OTTHUMP00000235609;fuzzy homolog;protein fuzzy homolog APPROVED protein-coding ENSG00000010361 26219 08662 182940;610622 REVIEWED 732098 FUT9 fucosyltransferase 9 (alpha (1,3) fucosyltransferase) The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011] 6 6 q16 96570566 96770209 + 96463845 96663488 + 1580863;6480464;6907045 11698403;10386598;18395013;16282604;15489334;14702039;14574404;23192350;12626397;12477932;12417923;12107078;11278338;10929005;10622713;10575236;8889548;19460885;20379614;23000574 10690 Q5Q0U2;Q9Y231 AB023021;ABBA01014528;ABBA01014529;AJ238701;AK095046;AK293817;AK314966;AL034348;AL080093;AL139108;AL512406;AL512447;AL833558;AMYH01016526;AMYH01016527;AMYH01016528;AY800264;BC036101;CH471051;CK299829;CK904220;NM_006581 AAH36101;AAV67966;ABM85049;BAA81685;BAG37467;BAG57222;CAB41890;EAW48510;EAW48511;NP_006572;Q9Y231 Hs.49117 1684254;1696642;1707630;1711112;1713983;1757543;1762487;1793752;2115706;2125235;5109281 D1S1425;PMC26954P1;RH119421;RH27006;SHGC-144974;SHGC-146306;SHGC-36057;SHGC-56489;SHGC-82954;SHGC-84631;SHGC-86200 Fuc-TIX OTTHUMP00000016877;alpha-(1,3)-fucosyltransferase;fucT-IX;fucosyltransferase IX;galactoside 3-L-fucosyltransferase APPROVED protein-coding 4020 06036 606865 REVIEWED 1604403 FXN frataxin This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 9 9 q21.11 70840164 70878772 + 71650479 71715094 + 2307049;1582636;2307051;2307048;2307050;2307045;1598961;6480464;6484113;7240710 10969848;8596916;10102715;12925693;9588463;17404227;10543403 15827563;15641778;15581888;15534367;15489334;15304363;15247478;15233994;15180699;14962663;12755598;12477932;12354789;12354077;12140189;12019217;11862710;11857753;11823441;11810294;11121205;11020385;10903947;10900192;10874325;10732799;12785837;18537827;15123683;17285345;15961414;15509595;18160053;18424449;17468497;19259763;19182486;18768799;18759347;18725397;18697824;18687468;18682748;18597733;18581197;18464277;18425540;18379460;18045804;18045775;17703324;17478498;17331979;17262846;17098208;16857735;16787388;16713569;16677095;16608849;16263703;16203742;16091420;10545606;10428860;10399865;9989622;9779809;9737785;9700204;9331900;9326946;9302253;9241271;9241270;9180083;9150176;8841185;7485155;19913121;20628086;22352884;20889968;20569261;17207965;20873749;20877624;20819074;19064571;19104905;19376812;19679182;19772192;19843162;19956589;20053667;20461801;20506029;20808827;20301458;21216878;22691228;21412413;22399236;22447512;21298097;21368894;21671584;21531789;21760943;21776984;21863062;22522441;21570254;21745819;21890473;22764244;22095894;21830088;21550666;23082224;23049850;23269675;23334592;22587705;23382970;22897349;22409940 2395 C9JAX1;H7C585;Q16595 AA232366;ABBA01033799;AF028240;AI951739;AK308620;AL162730;AMYH01021383;AMYH01021384;BC023633;BC048097;BF058880;CH471089;NG_008845;NM_000144;NM_001161706;NM_181425;U43747;U43752;U43753;U93173;U93174;U93175;Y13751 AAA98508;AAA98509;AAA98510;AAB84047;AAD00734;AAD00735;AAD00736;AAH23633;AAH48097;ADQ32463;CAA74077;EAW62473;EAW62474;NP_000135;NP_001155178;NP_852090;Q16595 Hs.20685 1667380;1689274;5015619;5020946;5020948;5037552;5037554;5109281;5118800 D11S3114;D11S3663;D1S1425;D8S2279;D8S2282;G35510;L17971;RH93216;WI-17089 CyaY;FA;FARR;FRDA;MGC57199;X25 Friedreich ataxia protein;OTTHUMP00000021428;OTTHUMP00000215688;OTTHUMP00000215689;frataxin, mitochondrial 2316052 GLUCO208_H APPROVED protein-coding ENSG00000165060 3951 06013 229300;606829 REVIEWED 1323342 FXR1 fragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q28 182113146 182177644 + 180630234 180700541 + 1580863;6480464 7781595;9642279;10888599;9817930;17382880;17290396;17081983;16381901;16169070;15968590;15782174;15592455;15489336;15489334;12878157;12477932;11735223;11438699;11076863;10567518;10556305;10527928;10196376;9259278;8668200;8634689;8125298;7489725;20696395;20442204;18029348;18628314;19487368;19571811;21145461;21072162;19596686;21081666;22108332;18664458;19322201;21628590;19471022;21139048;21906983;21963094;22586326;22113938;23000965;23555284;22505724 8087 B4DXZ6;C9IZ22;C9J5B4;C9JAJ4;C9JY20;C9JYQ6;C9JZE0;E7EU85;E9PFF5;H7C4S4;P51114 ABBA01058512;ABBA01058513;AC008009;AF075028;AK225334;AK292633;AK294603;AK297254;AK297331;AK302197;AMYH01013693;AMYH01013694;AMYH01013695;AMYH01013696;AU280585;AY341428;BC010382;BC028983;BQ016986;BX956500;CH471052;CQ834608;CQ834610;DC352767;NM_001013438;NM_001013439;NM_005087;U25165;X90874 AAC50155;AAH28983;AAQ20045;BAF85322;BAG57790;BAG59733;BAG59790;BAG63558;CAA62382;CAH05519;CAH05520;CAL37935;CAL38042;CAL38373;EAW78365;EAW78366;EAW78367;EAW78368;EAW78369;EAW78370;EAW78371;EAW78372;NP_001013456;NP_001013457;NP_005078;P51114 Hs.478407 1663598;1685642;1719163;1722605;1735244;2128345;2168275;2170038;2173004;2177823;5017781;5492041 A006P45;BI274570;Cda01e11;D3S2910E;D3S3105;FXR1;G60386;RH123299;RH98363;SHGC-53644;SHGC-77579;SHGC-77583 FXR1P OTTHUMP00000212640;OTTHUMP00000212641;OTTHUMP00000212642;OTTHUMP00000212643;OTTHUMP00000212644;OTTHUMP00000212645;fragile X mental retardation syndrome-related protein 1;hFXR1p APPROVED protein-coding 4023 02892 600819 REVIEWED 1342669 FXYD2 FXYD domain containing ion transport regulator 2 This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011] 11 11 q23 117196000 117204017 - 117690790 117698807 - 1598986;1580863;6480464;6907045;7240710 11062458 9048881;18448590;18000745;17316900;15489334;15252450;14702039;12907667;12477932;11832419;11112438;10950925;10559186;9915957;9600999;9463334;9405479;7916648;7566098;20379810;19865785;19879113;15071553;21130072;22588134 486 P54710;Q8N8W8 AA309757;AA814197;ABBA01039718;AF241235;AF241236;AF316896;AK096069;AMYH01004065;AP000757;BC005302;BC013289;BT006721;BX641053;CH471065;DQ786191;NG_011543;NM_001680;NM_021603;U50743 AAB09425;AAG34359;AAG34360;AAG34361;AAG37906;AAG37907;AAH05302;AAH13289;AAP35367;BAC04693;EAW67325;EAW67326;NP_001671;NP_067614;P54710 Hs.731865 1298235;1754205;2146701;2173367;5038529 D11S1998;D11S4955;RH47007;SGC33973;SHGC-132239 ATP1G1;HOMG2;MGC12372 ATPase, Na+/K+ transporting, gamma 1 polypeptide;Na(+)/K(+) ATPase subunit gamma;OTTHUMP00000233057;OTTHUMP00000233058;OTTHUMP00000233059;OTTHUMP00000233060;OTTHUMP00000233062;Sodium-potassium-ATPase, gamma polypeptide;sodium pump gamma chain;sodium/potassium-transporting ATPase subunit gamma APPROVED protein-coding ENSG00000137731 4026 03487 154020;601814 REVIEWED 6766909 FXYD6-FXYD2 FXYD6-FXYD2 readthrough This locus represents naturally occurring read-through transcription between the neighboring FXYD domain-containing ion transport regulator 6 (GeneID 53826) and sodium/potassium-transporting ATPase subunit gamma (GeneID 486) genes on chromosome 11. One read-through transcript produces a fusion protein that shares sequence identity with each individual gene product, while another read-through transcript encodes a protein that has a distinct C-terminus and only shares sequence identity with the upstream locus (GeneID 53826). [provided by RefSeq, Aug 2011] 11 q23 117690790 117747746 - 15146197;16344560;20967262 100533181 Q9H0Q3 ABBA01039718;AMYH01004065;AMYH01004066;AP000757;CN310658;FY211982;FY214031;NM_001204268;NM_001243598 NP_001191197;NP_001230527 2146701;2173367 RH47007;SGC33973 FXYD6-FXYD2 read-through protein protein-coding ENSG00000255245 39978 REVIEWED 734187 FXYD1 FXYD domain containing ion transport regulator 1 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008] 19 19 q13.1 40321572 40325794 + 35629732 35633954 + 68780;1580863;6480464 9169143 18052210;18000745;17309881;16921169;16288923;15489334;14597563;12535606;12477932;10950925;10811636;10087003;7999001;21449573;20371314;16341674;20861470;20720179;19638348;19879113;21220422;21130070;22275761;21957166;21849407;22535957;23224879;8889548 5348 K7EQG4;O00168 AA524547;ABBA01018733;ABBA01018734;AC020907;AK289811;AMYH01009723;AMYH01009724;BC032800;BM691130;BM856555;BX115036;CS488920;H57207;HY107209;HY111815;HY151101;HY151827;NM_001278717;NM_001278718;NM_005031;NM_021902;R46545;R72515;U72245 AAC51286;AAH32800;ABW03332;ABW03689;BAF82500;CAM55994;NP_001265646;NP_001265647;NP_005022;NP_068702;O00168 Hs.442498 1340646;7185352 D19S208 MGC44983;PLM FXYD domain containing ion transport regulator 1 (phospholemman);fxyd domain-containing ion transport regulator 1;phospholemman APPROVED protein-coding ENSG00000266964 4025 03837 602359 REVIEWED 1347597 FXYD6P2 FXYD domain containing ion transport regulator 6 pseudogene 2 10 10 10 p11.1 38151945 38152232 - 38420698 38420985 - 38380692 38380979 - 100128512 ABBA01033287;AL117339;AMYH01002261;NG_017125 APPROVED pseudo 4032 INFERRED 1344306 FXYD6P3 FXYD domain containing ion transport regulator 6, pseudogene 3 53823 4033 1315950 FXR2 fragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq, Jul 2008] 17 17 p13.1 7435272 7458796 - 7494548 7518215 - 1580863;6480464 10556305;7489725;16189514;17353931;9259278;17081983;16713569;15592455;15489334;15144186;12477932;11438699;10888599;10662545;10567518;10196376;9437788;8668200;21145461;20442204;16344560;18029348;19060904;19487368;19615732;20211142;20562859;21072162;20811636;22675492;18664458;21139048;21903422;21906983;22586326;23000965;23118916;23537643 9513 I3L1Z2;P51116 AA593676;ABBA01054873;ABBA01054874;ABBA01054875;AC007421;AC016876;AF044263;AK226082;AK313836;AMYH01008085;BC020090;BC051907;BC067272;BT009817;CH471108;DA114906;FJ695203;NG_028105;NM_004860;U31501 AAC03357;AAC50292;AAH20090;AAH51907;AAH67272;AAP88819;BAG36569;EAW90154;EAW90155;NP_004851;P51116 Hs.52788 1646584;1674212;1690194;1730111;5093770 A009W19;D17S812E;G32913;RH76489;STS-N93513 FMR1L2;FXR2P fragile X mental retardation syndrome related protein 2;fragile X mental retardation syndrome-related protein 2;fragile X-mental retardation 1-like 2 APPROVED protein-coding ENSG00000129245 4024 05629 605339 REVIEWED 1348403 FXYD3 FXYD domain containing ion transport regulator 3 This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] 19 19 q13.12 40298639 40307067 + 35606732 35615228 + 1580863;6480464 16712791;7836447;19109419;18000745;17409496;17077088;16344560;16288923;16003754;15489334;14654946;12535606;12477932;10950925;8521420;7566098;16169070;20805335;20364041;19571376;19893046;19955746;20112499;21900206 5349 Q14802 AA298900;ABBA01018732;AC020907;AK311689;AMYH01009723;AW250864;BC005238;BC090044;BE793135;BI715233;BM549935;BQ676323;BQ682674;BT006712;BU185141;CA948888;CB128589;CR456945;CR542197;DA438143;DA890604;DB202948;NM_001136007;NM_001136008;NM_001136009;NM_001136010;NM_001136011;NM_001136012;NM_005971;NM_021910;U28249;U31214;X93036 AAA73922;AAA90912;AAH05238;AAH90044;AAP35358;CAA63604;CAG33226;CAG46994;NP_001129479;NP_001129480;NP_001129481;NP_001129482;NP_001129483;NP_001129484;NP_005962;NP_068710;Q14802 Hs.301350 1654868;1770493;1770495;2159548;5016494 A005M08;G20326;GDB:568724;RH15921;RH17423 MAT-8;MAT8;MGC111076;PLML FXYD domain-containing ion transport regulator 3;chloride conductance inducer protein Mat-8;mammary tumor 8 kDa protein;phospholemman-like protein APPROVED protein-coding ENSG00000089356 4027 05410 604996 REVIEWED 1350598 FXYD6P3 FXYD domain containing ion transport regulator 6 pseudogene 3 X X X q13.2 73378824 73380275 + 73011598 73013524 + 73095344 73096795 + 406875 P58550 ABBA01059634;AL353804;AMYH01022611;NG_009946 P58550 FXYD8 APPROVED pseudo 31124 INFERRED 1349556 FXYD6P1 FXYD domain containing ion transport regulator 6 pseudogene 1 10 10 10 q11.21 39054336 39054623 + 42370894 42371181 + 43050888 43051175 + 100128934 ABBA01049990;AL022345;AMYH01002282;NG_017128 APPROVED pseudo 4031 INFERRED 735874 FXYD4 FXYD domain containing ion transport regulator 4 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010] 10 10 10 q11.21 39869483 39874173 + 43187098 43191789 + 43867092 43871783 + 6480464;6907045 15489334;15164054;12975309;12763854;12535606;12477932;12217851;11483503;10950925 53828 P59646 AA759244;ABBA01050000;AI829935;AL512654;AMYH01002289;AY358584;BC054876;BF507928;BG432244;CH471160;NM_001184963;NM_173160 AAH54876;AAQ88947;ADR82693;EAW86592;EAW86593;EAW86594;NP_001171892;NP_775183;P59646 Hs.130497 1729982;7184648;7184837 D10S94 CHIF OTTHUMP00000035334;channel-inducing factor APPROVED protein-coding ENSG00000150201 4028 07019 REVIEWED 1605677 FXYD5 FXYD domain containing ion transport regulator 5 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009] 19 19 q13.12 40337467 40352625 + 35645625 35660788 + 6480464 11756660;19217217;18677652;18263667;17442482;17437014;17084448;16333245;15751018;15619642;15489334;15466191;15459499;15102690;12975309;12970317;12477932;11342114;11042152;10950925;7566098;16341674;20712010;20944097;19913121;20628086;20952084;21239043;22965940;21809991;21774927;21328336;21906983;22494103;22105147 53827 A8MVG1;F5H4X8;K7EJH6;K7ER99;Q96DB9 AA044211;AA296696;AB072911;ABBA01018735;ABBA01018736;AC002390;AC020907;AF161462;AF177940;AI424071;AK304012;AMYH01009725;AY157582;AY358991;BC009642;BC013834;BC018798;BG025158;BM839241;BQ183683;BQ440098;BQ941279;BT007343;BU164524;BU178888;HI574352;HI574354;NM_001164605;NM_014164;NM_144779;NR_028406 AAF29077;AAG09301;AAH09642;AAO13166;AAP36007;AAQ89350;ABM84673;ABM92202;BAB83766;BAG64927;CBX47665;CBX47666;NP_001158077;NP_054883;NP_659003;Q96DB9 Hs.333418 1670754;1720985;2108107;2166245 A004Z42;EST209638;FXYD5_8051;G59474 HSPC113;IWU-1;IWU1;KCT1;OIT2;PRO6241;RIC FXYD domain-containing ion transport regulator 5;OTTHUMP00000045760;OTTHUMP00000045761;dysadherin;keratinocytes associated transmembrane protein 1 APPROVED protein-coding ENSG00000089327 4029 09448 606669 REVIEWED 4109105 FYTTD1P1 forty-two-three domain containing 1 pseudogene 1 9 9 9 q31.1 74649219 74652331 - 103173664 103178706 - 104135610 104138721 - 100128665 ABBA01042874;AL359893;AMYH01021579;NG_009774;NG_012326 FLJ20300 pseudo 38035 INFERRED 1345293 FYTTD1 forty-two-three domain containing 1 3 3 3 q29 196093531 196127401 + 198961080 198995584 + 197476424 197511317 + 737633;6480464 12477932 16381901;15862967;15489336;11230166;11076863;16169070;19836239;21139048 84248 C9JNG6;F6VVD0;H9KVC1;H9KVC6;H9KVD1;H9KVD5 ABBA01007563;ABBA01007564;ABBA01007565;ABBA01007566;AC024560;AC055764;AJ344094;AK027672;AK296283;AK302546;AK303462;AK315019;AK316308;AL136558;AMYH01013808;BC013602;BC035006;BC039734;BX509179;CH471252;CR533502;H97483;NM_001011537;NM_032288;NR_027840 AAH35006;AAH39734;BAB55284;BAG37509;BAH12300;BAH13737;BAH13966;BAH14679;CAB66493;CAC51432;CAG38533;CAL37931;EAW92240;EAW92241;NP_001011537;NP_115664;Q96QD9 Hs.277533 1342261;1670980;1735276;2155709 D3S2320;D3S2927E;D3S3329;SHGC-77700 DKFZp761B1514;UIF OTTHUMP00000208027;OTTHUMP00000208028;OTTHUMP00000208031;OTTHUMP00000208032;UAP56-interacting factor;forty-two-three domain-containing protein 1;protein 40-2-3 protein-coding ENSG00000122068 25407 10909 VALIDATED 732780 FXYD7 FXYD domain containing ion transport regulator 7 This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000] 19 19 19 q13.12 32347590 32358642 + 40325994 40337045 + 35634154 35645205 + 1580863;6480464 15489334;12477932;12093728;10950925;9447982;19913121;20628086;21163940;22535957 53822 B4DK58;K7EKU3;K7ENE8;P58549 ABBA01018734;ABBA01018735;AC020907;AI929519;AK057825;AMYH01009725;BC018619;NM_022006 AAH18619;ABM83415;ABM86626;NP_071289;P58549 Hs.134729 FLJ25096 FXYD domain-containing ion transport regulator 7 APPROVED protein-coding ENSG00000221946 4034 09457 606684 REVIEWED 1603714 FYB FYN binding protein The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 5 5 p13.1 39141114 39255424 - 39105354 39270759 - 6480464 17474147;10747096;9207119;18802088;17785790;17511475;16980616;16831444;16503409;16461356;16020549;15849195;15843031;15144186;14702039;12477932;12458214;10942756;10856234;10570256;10502464;10497204;9755858;9748251;9671755;9115214;7504057;10229084;19798671;19807924;20164171;20379614;10469599;15342556;21536650;21881001 2533 D6RAE8;D6RC38;D6RER7;D6RFJ5;O15117;Q05DE9 ABBA01024208;ABBA01024209;ABBA01024210;AC008964;AC010633;AC025471;AF001862;AF116653;AF198052;AI961953;AK123918;AK130159;AK290403;AK297077;AMYH01015043;AV761195;BC015933;BC017775;BC058827;BC117449;BC143645;BP265190;BQ015514;BX647195;BX647196;CD691549;CD701507;CH471119;NG_029596;NM_001243093;NM_001465;NM_199335;U93049 AAB62226;AAC51300;AAF62400;AAF71073;AAH15933;AAI17450;AAI43646;BAF83092;BAG59594;EAW55981;EAW55982;EAW55983;EAW55984;EAW55985;NP_001230022;NP_001456;NP_955367;O15117 Hs.370503;Hs.691768 1673100;1678711;1770717;1797548;1852655 D14S897;FYB_2226;RH44564;SGC34783;STS-W95074 ADAP;PRO0823;SLAP-130 FYB-120/130;FYN-T-binding protein;FYN-binding protein;FYN-binding protein (FYB-120/130);OTTHUMP00000221177;OTTHUMP00000221178;OTTHUMP00000221179;OTTHUMP00000221180;SLP-76-associated phosphoprotein;adhesion and degranulation promoting adaptor protein;adhesion and degranulation-promoting adaptor protein;p120/p130 APPROVED protein-coding ENSG00000082074 4036 04107 602731 REVIEWED 735925 FXYD6 FXYD domain containing ion transport regulator 6 This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011] 11 11 q23.3 117212903 117252577 - 117707691 117748201 - 1580863;6480464 12975309;11256614;18455306;17357072;16381901;16169070;15489336;15489334;14702039;11076863;12477932;10950925;11230166;7566098;21216238;16344560;20149392;20468077;23080069;21983730;21906983 53826 E9PHZ3;E9PJ02;J3QKN1;Q9H0Q3 ABBA01039718;AK055389;AK092198;AK289629;AK290757;AK311736;AL035858;AL136699;AL832811;AMYH01004066;AP000757;AW025308;AY358976;BC018652;BC093040;BT006717;BX460202;CH471065;CR533457;DA001721;DA056858;DA086584;DA131017;DA209740;DA779545;NG_013071;NM_001164831;NM_001164832;NM_001164836;NM_001164837;NM_022003;W92638 AAH18652;AAH93040;AAP35363;AAQ89335;ABM84740;ABM92255;BAF82318;BAF83446;CAB66634;CAG38488;CAI46171;CAL37789;CAL37993;EAW67327;EAW67328;EAW67329;EAW67330;EAW67331;EAW67332;EAW67333;EAW67334;EAW67335;EAW67336;EAW67337;NP_001158303;NP_001158304;NP_001158308;NP_001158309;NP_071286;Q9H0Q3 Hs.413137 1663228;1730409;1743403;1760475;1777626;2172193;2182582;2217344;7186305 D11S2293E;D11S3964E;D11S943E;FXYD6_3833;GDB:315997;IB39;RH36630;SHGC-143196 OTTHUMP00000234693;OTTHUMP00000234694;OTTHUMP00000234695;OTTHUMP00000234696;OTTHUMP00000234697;OTTHUMP00000234698;phosphohippolin APPROVED protein-coding ENSG00000137726 4030 09456 606683 REVIEWED 7245093 FZD10-AS1 FZD10 antisense RNA 1 (head to head) 14702039;22780124 440119 ABBA01019802;AC026336;AK056047;AK056281;AK123838;AMYH01004874;AMYH01004875;NR_033834 Hs.288262 1746155;1757439 G64711;SHGC-144822 miscrna ENSG00000250208 48632 VALIDATED 1319203 FYCO1 FYVE and coiled-coil domain containing 1 This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] 3 3 3 p21.31 45897023 45974921 - 45934399 46012311 - 45959391 46037316 - 1580863;6480464;7240710 21636066;15489334;15342556;14702039;12477932;11896456;20562859;20100911;20237496;20379614;21832049;23455924;16344560;20364109;21565611;22963397;21139048;23043107 79443 B7ZKT7;C9J2W6;H7BZ74;Q9BQS8 AA628466;ABBA01024719;ABBA01024720;AC099782;AJ292348;AK023397;AK074165;AL832358;AL833308;AMYH01013130;BC007218;BC101468;BC101470;BC143368;BP249484;BX537863;CH471055;DB134257;NG_031955;NM_024513 AAH07218;AAI01469;AAI01471;AAI43369;BAB14559;BAB84991;CAC33883;CAD89924;CAD91151;EAW64753;NP_078789;Q9BQS8 Hs.200227;Hs.739775 1652805;1719695;1739825;1761689;1779310;1784746;1792072;1795660;1854445;2120818;2127048;2160652 CXCR6_566;D3S3486E;PMC135988P4;RH123536;RH45259;SHGC-145665;SHGC-153311;SHGC-154450;SHGC-57094;SHGC-76908;STS-H96723;STS-N31809 CATC2;CTRCT18;DKFZp779K1152;FLJ13335;MGC126517;MGC126519;RUFY3;ZFYVE7 FYVE and coiled-coil domain-containing protein 1;OTTHUMP00000164650;RUN and FYVE domain containing 3;zinc finger FYVE domain-containing protein 7 APPROVED protein-coding ENSG00000163820 14673 06215 607182;610019 REVIEWED 1347205 FZD10 frizzled family receptor 10 This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008] 12 12 q24.33 129212985 129216238 + 130647004 130650285 + 1580863;2293491;6480464;6907045 15923619 10448064;19137009;19134005;15489334;12477932;11786918;11597177;9707618;20634891;20037267;20227380;15930302;16007199;18271942;22780124;22318606 11211 F5H450;Q6NSL8;Q9ULW2 AB027464;ABBA01019803;ABBA01019804;AC026336;AI697875;AL556202;AMYH01004876;BC070037;BC074997;BC074998;CH471054;CS531806;NM_007197 AAH70037;AAH74997;AAH74998;BAA84093;CAM84938;EAW98507;NP_009128;Q9ULW2 Hs.31664;Hs.733275 2108771 FZD10_7998 CD350;FZ-10;Fz10;FzE7;hFz10 OTTHUMP00000238659;frizzled 10;frizzled 10, seven transmembrane spanning receptor;frizzled homolog 10;frizzled-10 APPROVED protein-coding ENSG00000111432 4039 05853 606147 REVIEWED 736261 FZD1 frizzled family receptor 1 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008] 7 7 q21 90731719 90736068 + 90893783 90898132 + 1580863;2298699;2293491;6480464;6907045 15492823;15923619 12067714;19543507;19453261;19421142;19148501;18715140;18382662;17895994;17496152;16442268;15489334;15370539;15252441;14739301;12853948;12690205;12477932;12012019;10557084;9813155;9707618;20634891;18929644;19277043;19388021;20051274;19643732;23442549;22939629;22303445;22484497;21906983;23259602;22505724 8321 Q9UP38 AACC02000015;AB017363;ABBA01045823;AC084381;AF072872;AK314996;AL049994;AMYH01017684;BC017719;BC051271;CH236949;CH471091;NM_003505 AAD41636;AAH51271;AAS02008;BAA34666;BAG37492;EAL24161;EAW76871;NP_003496;Q9UP38 Hs.94234 1681676;1798578;1806262;1810270;1811808;1815900;1822248;1823946;1850773;2078996;2078998;2079000;2079002;2079004;2079006;2079008;2079010;2079012;2079014;2079016;2079018;2079020;2079022;2079024;2079026;2079028;2079030;2079032;2079034;2079036;2079038;2079040;2079042;2079044;2079046;2079048;2079050;2079052;2179116;2195430;2195432;2195434;2195436;2217346 ECD00128;ECD04086;ECD06127;ECD06908;ECD08990;ECD12210;ECD13068;FZD1_3907;REN110705;REN110706;REN110707;REN110708;REN110709;REN110710;REN110711;REN110712;REN110713;REN110714;REN110715;REN110716;REN110717;REN110718;REN110719;REN110720;REN110721;REN110722;REN110723;REN110724;REN110725;REN110726;REN110727;REN110728;REN110729;REN110730;REN110731;REN110732;REN110733;RH93094;STS-AA010162;STS-N70776;stSG615199;stSG615200;stSG615201;stSG615202 DKFZp564G072;FLJ95923 OTTHUMP00000024664;Wnt receptor;frizzled 1, seven transmembrane spanning receptor;frizzled homolog 1;frizzled, Drosophila, homolog of, 1;frizzled-1;fz-1;fzE1;hFz1 APPROVED protein-coding ENSG00000157240 4038 04558 603408 REVIEWED 732935 FZD3 frizzled family receptor 3 This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010] 8 8 p21 28407692 28477901 + 28351722 28431785 + 704404;1582654;1582650;1582649;1582651;1580863;2293492;6480464;6907045 9147651;15274031;14642436;15657645;17226800 15364045;10777673;10491302;19054571;18702828;18584117;18212053;17982906;16707163;15340161;12477932;12011974;11407985;10873558;9192640;18583979;19038973;20219685;18256285;19277043;16344560;20206998;20819778;8889548;22027177;19388021 7976 A8K615;E5RGI9;Q9NPG1 AB039723;ABBA01005603;ABBA01005604;AC011132;AJ272427;AK291480;AMYH01018604;AY005130;BC034278;BC042009;BU676090;CH471080;DA250029;NG_029723;NM_017412;NM_145866 AAF89088;AAI56294;AAI72481;BAA94968;BAF84169;CAB89114;EAW63511;NP_059108;NP_665873;Q9NPG1 Hs.40735;Hs.734277 1724531;1846590;1851538;2122757;2148937;2177966;5020635 A007B14;D7S3207;RH122525;RH12433;RH15824;SGC31127;STS-AA024552 Fz-3;hFz3 OTTHUMP00000128338;frizzled 3, seven transmembrane spanning receptor;frizzled homolog 3;frizzled-3 APPROVED protein-coding ENSG00000104290 4041 05849 606143 REVIEWED 731929 FYN FYN oncogene related to SRC, FGR, YES This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008] 6 6 q21 112089178 112301320 - 111981535 112194655 - 1358600;1580863;1358602;1358593;704404;2298729;2324970;2324866;2324864;5131492;5147998;6480464;6484113;6907045 14999081;15708437;12670706;17658244;12778121;9551931;12353920;15380937;11226670 20855525;15713745;15588985;15557120;15537652;15536091;15514010;15489334;15345598;15345594;15206927;15190072;15175272;15144186;15098360;15082191;14980517;14761972;14761954;14757743;14702039;14675807;14662334;14647465;14574404;14517306;14506255;12932824;12917446;12857875;12846735;12835311;12788081;12730241;12697812;12695509;12668668;12640114;12589038;12545174;12538589;12529448;12526739;12524444;12509223;10435619;10383400;10339567;10224664;10212213;10209036;10196263;10092522;10089404;10022833;9973379;9890970;9856337;9837978;9837776;9822663;9804857;9799234;9763511;9756930;9741627;9712716;9710204;9687533;9677430;9674711;9648856;9603925;9576921;9573028;9553134;9535867;9535845;9531288;9507006;9446569;9425276;9417082;9368621;9366405;9360983;9351806;9207119;9196040;9195918;9195899;9188452;9185665;9121430;9118959;9104812;9091579;9079653;9060467;9047237;9045636;9038134;8995379;8980254;8961927;12496362;10447714;16831868;14993658;7822789;7722293;8264796;1361685;10858437;15611048;19330793;19131339;18978678;18922801;18849153;18842137;18710921;18628988;18564062;18337055;18267011;18180382;18174230;18089558;18056706;17943724;17703099;17701175;17599905;17417065;17334644;17192257;17130124;17129785;16891393;16888650;16882656;16860569;16782058;16777849;16713569;16597701;16503409;16400523;16237174;16145685;16115884;16014719;15925565;15872086;12477932;12471123;12458214;12450793;12426371;12419528;12408980;12374739;12372285;12370810;12368035;12237775;12218089;12181444;12096713;12089510;12084815;11994282;11983687;11943848;11943772;11839780;11826099;11820784;11806999;11777936;11744621;11741929;11739737;11711534;11684709;11677266;11598189;11594778;11546790;11536198;11526103;11483655;11466305;11423543;11356869;11353545;11298344;11278857;11239464;11204284;11162638;11158295;11121167;11087735;11075717;11024032;11005864;10945997;10921922;10896916;10872802;10871840;10867021;10816433;10804218;10799548;10790433;10764799;10744724;10733577;10708762;10591186;10586033;10570256;10564280;10551884;10532312;10498895;10482988;10458595;8910336;8810341;8805554;8805332;8798684;8760790;8756631;8681387;8655574;8631859;8626376;8621719;8621384;8566014;8483935;8395016;8394019;8262983;8104794;7929439;7760813;7687536;7682059;7681396;7664083;7595520;7589480;7589101;7589084;7565724;7545683;7537495;7525550;7521304;7517401;7516469;7515933;7504057;3526330;3330788;3099169;1985196;1717997;1715582;1699196;1696179;1544885;1530920;1454062;1385527;1351058;1334406;8671590;9344703;9269777;9043947;8883579;16454711;10642173;7588629;9778343;9351809;15638726;15078178;14965316;10544125;7859737;12171928;9748251;9632142;11741599;11960376;12558988;10636929;9892651;12244174;12138090;11724572;8058772;9750131;10739664;9846481;8294442;11278378;10571044;9169421;11483358;1446976;1387715;10229084;10629042;10829062;12941616;19711372;9311917;15707590;16537602;22354875;22745667;23188823;15494732;10571082;19913121;20628086;16344560;12431372;12753742;20658524;20682987;11604131;119942;12660731;16316995;16374509;16818765;16899217;16938345;17164290;17189269;17474147;19258392;19258394;19468241;19501919;19542604;19567819;19690143;19733625;19805512;19807924;19816407;19917775;19955046;19968749;20056178;20056645;7642581;82;8493579;9028946;9032261;9295288;9344857;9819391;16387660;20506281;21098700;21371426;22474169;21480388;21513984;23300847;22709448;11078745;15033366;1384720;14684825;18991950;19290918;19728795;19958149;20151426;21749309;21757751;21799250;20534535;21364031;21592972;21692989;23175838;22442244;20360068;20584982;21642356;21952639;21298565;21900206;21881001;15208330;19953087;21139048;22403409;22189847;22161863;22447928;20182632;22689581;7782294;8900205;11149959;11157475;11262396;15556646;8626543;9252391;12244095;16964398;18067320;21890473;21963094;21988832;22939624;23000965;23438599;8662998;9670010;12231245;12893833;14530346;15169881;17785434;18714047;20012528;21738584;22422068;22833681;8995358;22868769;23128233;22843238;23077515 2534 B3KPS6;E5RFM0;E5RFM4;E5RFM6;E5RFS5;E5RGM6;E5RGT0;E5RH71;E5RHF7;E5RHX7;E5RI25;E5RIX5;E5RJX7;E5RK23;P06241;Q5R3A8 AB451293;AB451426;ABBA01026083;ABBA01026084;ABBA01026085;AI187118;AK056699;AL109916;AL158035;AMYH01016593;AMYH01016594;AMYH01016595;AY429536;BC032496;BI552534;BP391373;CH471051;CX781584;CX872011;DA570412;DA815564;DA922886;DA931034;M14333;M14676;NM_002037;NM_153047;NM_153048;S74774;Z97989 AAA36615;AAB33113;AAC08285;AAH32496;ADZ15411;BAG51788;BAG70107;BAG70240;EAW48278;EAW48279;EAW48280;EAW48281;EAW48282;EAW48283;EAW48284;NP_002028;NP_694592;NP_694593;P06241 Hs.390567;Hs.664520 1340521;1649380;1652163;1657447;1662444;1662446;1670149;1688215;1695652;1741965;1769389;1769391;1771952;1795880;1857405;2150723;2183345 A005Q39;AL022469;AL023485;D6S2035;D6S302;FYN_1578;G20422;GDB:187104;RH46682;RH46768;RH48180;RH76192;SHGC-30883;SHGC-31232;SHGC-78694;SHGC-960;STS-N35086 MGC45350;SLK;SYN;p59-FYN OKT3-induced calcium influx regulator;OTTHUMP00000017914;OTTHUMP00000017915;OTTHUMP00000017916;OTTHUMP00000017917;OTTHUMP00000226354;OTTHUMP00000226453;c-syn protooncogene;p59-Fyn;protein-tyrosine kinase fyn;proto-oncogene Syn;proto-oncogene c-Fyn;proto-oncogene tyrosine-protein kinase fyn;src-like kinase;src/yes-related novel;tyrosine kinase p59fyn(T);tyrosine-protein kinase Fyn APPROVED protein-coding ENSG00000010810 4037 00655 137025 REVIEWED 732091 FZD2 frizzled family receptor 2 This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010] 17 17 17 q21.1 39345439 39347421 + 39990451 39992433 + 42634812 42638630 + 1580863;2298699;2298700;4107053;6480464;6484113;6907045 15492823;12909487;8762054 8626800;19308021;18929644;18215320;15489334;12839624;12477932;12067714;9813155;9707618;7558010;19038973;19946729;20634891;19910923;15146197;7829101;19388021;21850537;21890473;22101459 2535 Q14332;Q86UZ8 AB017364;ABBA01028362;ABBA01028363;AC103703;AI376463;AMYH01008423;AMYH01008424;AW023425;BC052266;BC113402;BC113404;CH471178;CN417837;L37882;NM_001466 AAB46397;AAH52266;AAI13403;AAI13405;BAA34667;EAW51591;NP_001457;Q14332 Hs.142912;Hs.732654 1792738;2112342;2127323;2217348;5022200 D17S2172;FZD2_3980;L18426;PMC16008P1;RH66817 Fz2;fz-2;fzE2;hFz2 frizzled 2, seven transmembrane spanning receptor;frizzled homolog 2;frizzled-2;fz-2;fzE2;hFz2 APPROVED protein-coding 4040 02813 600667 REVIEWED 1345907 FZD5 frizzled family receptor 5 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008] 2 2 q33.3 208335555 208342388 - 208627310 208634143 - 1580863;6480464;6484113;6907045 8626800;9054360;18838381;18230341;18077588;17273778;16890161;16601243;15815621;15694380;15370539;15338479;12477932;11520064;11408929;11230166;11029007;9707618;9192640;12490564;12839624;12857724;18174455;19453261;19543507;19643732;20525402;10906785;12121999;21344486;21988832;23337955;20227366;21900206 7855 Q13467 AB043702;ABBA01062689;AC096772;AK000125;AK024850;AL136852;AMYH01011449;BC035962;BC048322;BC058895;BC095474;BC114346;BF059357;CH471063;CR533442;NM_003468;U43318 AAC50385;AAI56525;AAI72518;AAY24058;BAB60959;CAB66786;CAG38473;EAW70426;NP_003459;Q13467 Hs.17631 1792740;1797118;2158999;2165916 FZD5;PMC16008P2;STS-T95625;STS-U43318 C2orf31;DKFZp434E2135;HFZ5;MGC129692 OTTHUMP00000206654;Wnt receptor;frizzled 5, seven transmembrane spanning receptor;frizzled-5;fz-5;fzE5;seven-transmembrane receptor frizzled-5 APPROVED protein-coding ENSG00000163251 4043 03427 601723 REVIEWED 736680 FZD4 frizzled family receptor 4 This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008] 11 11 q14.2 86334369 86344081 - 86656717 86666440 - 1598999;1580863;2298702;6480464;6907045;7240710 12172548;18068632 15981244;15370539;10544037;19453261;19172507;19020754;18787502;18161623;18156211;17386109;17093393;15489334;15488808;15223780;15195140;15024691;14737064;12958364;12477932;12067714;12044878;11401527;9707618;1598965;22574936;20634891;15035989;17955262;19277043;20008721;20141357;20713528;14688793;20938005;20340138;19388021;20819778;19643732;21097938;21363911;23077402;21900206;20301326;22057916;22575959 8322 Q9BY80;Q9ULV1 AB032417;AB054881;AB083613;ABBA01017318;AK025516;AK025791;AK292768;AMYH01003851;AP001528;AY462097;BC025750;BC114527;BC114622;CH471076;NG_011752;NM_012193 AAI14528;AAI14623;AAR23924;BAA86286;BAB40811;BAB89326;BAF85457;EAW75147;NP_036325;Q9ULV1 Hs.591968 1338852;1675427;1797204;1850572;2109333;2144612;2144614;2159963;5015619;5015861;5015961;5022200;7185938 A006F30;D10S16;D11S3114;D11S896;D15S1477;FZD4;FZD4_7916;G20766;L18426;RH48350;RH91382;STS-R26141 CD344;EVR1;FEVR;FZD4S;Fz-4;Fz4;FzE4;GPCR;MGC34390;hFz4 OTTHUMP00000235516;WNT receptor frizzled-4;frizzled 4, seven transmembrane spanning receptor;frizzled homolog 4;frizzled-4;hFz4 APPROVED protein-coding ENSG00000174804 4042 05203 133780;604579 REVIEWED 1350514 FZD8 frizzled family receptor 8 This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008] 10 10 p11.21 35967183 35970368 - 35927177 35930362 - 1580863;6480464;6907045 11295046;18505162;18464913;15454084;15370539;15164054;12477932;11520064;11452312;11448771;11076863;11029007;9192640;8626800;22808956;20634891;18256285;20093360;17549794;22738385;22303445;22699663 8325 Q9H461 AB043703;ABBA01033331;ABBA01033332;ABBA01033333;AF086500;AL121749;AMYH01002240;AMYH01002241;AMYH01002242;CH471072;NG_029968;NM_031866 AAI11846;BAB41064;EAW85909;NP_114072;Q9H461 Hs.302634 1659917;1721933;2107127;2159339 FZD8_7918;G59999;RH45143;RH78624 FZ-8;hFZ8 OTTHUMP00000019454;frizzled 8;frizzled 8, seven transmembrane spanning receptor;frizzled homolog 8;frizzled-8 APPROVED protein-coding ENSG00000177283 4046 05852 606146 REVIEWED 734067 FZD9 frizzled family receptor 9 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008] 7 7 q11.23 72486045 72488386 + 72848109 72850450 + 1580863;2292645;6480464;6907045 18177422 9147651;19543507;19038973;18832655;16835228;16189514;15705594;15370539;12853948;12477932;12138115;10198163;9707618;9192640;914765;14688793;20458727;20501643;19724923;20398908 8326 O00144;Q8TAN2 ABBA01063957;AC005049;AMYH01017532;AMYH01017533;BC026333;CH471200;NG_012028;NM_003508;U82169 AAC51174;AAH26333;AAQ93359;ABM84300;ABM87695;EAW69682;NP_003499;O00144 Hs.647029 1655809;2109335;5021949 FZD9_7271;Fzd10;STS-U82169 CD349;FZD3 OTTHUMP00000160317;frizzled 9, seven transmembrane spanning receptor;frizzled homolog 9;frizzled-9;fz-9;fzE6;hFz9 APPROVED protein-coding ENSG00000188763 4047 03460 601766 REVIEWED 1343855 FZD6 frizzled family receptor 6 This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011] 8 8 8 q22.3-q23.1 100497508 100531944 + 104380276 104414270 + 104310661 104345094 + 1580863;2293492;6480464;6484113;6907045 17226800 9480858;19543507;19453261;19034702;17516841;16344560;15489334;15370539;14747478;12477932;10347172;8626800;22211385;21665003;15265686;18029348;19322201;22045688;21906983;21937024;21139048;22078044;22249030;21963094;1927703 8323 B4E236;E5RGK8;E5RJG0;E5RJT4;F5H831;G5EA13;O60353 AB012911;AB065702;AB209734;ABBA01037632;ABBA01037633;AC025370;AF072873;AF363578;AK296824;AK299341;AK304092;AK313789;AK316544;AMYH01018944;AU130184;AU152862;AW511572;BC036106;BC060836;BX640609;CD652975;CH471060;CQ834498;DC417200;DC418286;NG_028909;NM_001164615;NM_001164616;NM_003506 AAD41637;AAH60836;AAL50384;BAA25686;BAC05925;BAD92971;BAG36526;BAG59395;BAG61342;BAG64998;BAH14915;CAE45715;CAH05464;EAW91867;EAW91868;EAW91869;EAW91870;EAW91871;EAW91872;EAW91873;NP_001158087;NP_001158088;NP_003497;O60353 Hs.591863;Hs.676099 1664136;1778201 RH78755;SHGC-33320 FZ-6;FZ6;Hfz6;NDNC10 OTTHUMP00000227684;OTTHUMP00000227685;OTTHUMP00000227687;frizzled 6, seven transmembrane spanning receptor;frizzled homolog 6;frizzled-6;fz-6;seven transmembrane helix receptor APPROVED protein-coding ENSG00000164930 4044 04559 603409;614157 REVIEWED 1604363 G0S2 G0/G1switch 2 1 1 q32.2 207915388 207916356 + 209848670 209849735 + 6480464 22716248;22535977;18636162;16710414;16341674;16086669;15489334;12477932;10645953;9428793;1930693;19706769;19816938;19878646;21613358;22891293 50486 P27469 ABBA01048215;AL031316;AMYH01001696;AV709160;BC009694;BM788126;BT007101;CH471100;CR542179;CR542193;M69199;M72885;NM_015714 AAA58966;AAB04044;AAH09694;AAP35765;ABM85536;ABW03730;CAG46976;CAG46990;EAW93447;NP_056529;P27469 Hs.432132 1797550;2121510;2177801;7183991 D1S3296;G0S2_2358;RH69169 RP1-28O10.2 G0/G1 switch protein 2;G0/G1 switch regulatory protein 2;OTTHUMP00000034644 protein-coding ENSG00000123689 30229 09968 614447 VALIDATED 1314691 FZD7 frizzled family receptor 7 Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008] 2 2 q33 202607555 202611405 + 202899310 202903160 + 1580863;2292645;2316755;6480464;6484113;6907045 18177422;12057921 9707618;19543507;19453261;18978678;18951430;18681827;18676680;18592008;18313787;18256285;18156211;17716656;17016432;16713569;16189514;15901282;15489334;15370539;15195140;12477932;12067714;9813155;9192640;18215320;20634891;11256614;19170196;19625176;19655379;19692168;19773752;21314951;21532620;21139048;21906983;19388021 8324 O75084 AB010881;AB017365;ABBA01062552;AC069148;AMYH01011405;BC015915;CH471063;NM_003507 AAH15915;AAX93250;ADZ15451;BAA32424;BAA34668;EAW70298;NP_003498;O75084 Hs.173859 1707804;2217350 FZD7_3908;SHGC-82128 FzE3 Frizzled, drosophila, homolog of, 7;OTTHUMP00000163742;frizzled 7, seven transmembrane spanning receptor;frizzled homolog 7;frizzled-7;fz-7;hFz7 APPROVED protein-coding ENSG00000155760 4045 04560 603410 REVIEWED 735418 G6PC3 glucose 6 phosphatase, catalytic, 3 This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.[provided by RefSeq, Sep 2009] 17 17 q21.31 39503644 39509238 + 42148098 42153712 + 737633;1302399;2302851;2302970;2302850;6480464;7240710 12477932;12370122;4353083;11440903;4303362 22469094;19118303;12965222;21206270;18337100;16341674;20498302;20616219;20220065;20799326;21048031;21264919;20717171;23298686;21677667;21385794;22050868;21891829 92579 K7EJC5;K7ENK1;K7EQ13;K7ESE6;Q9BUM1 ABBA01028388;AC023855;AMYH01008410;BC002494;BC021574;BC062596;BM790097;CH471178;DB460416;NG_015818;NM_138387;NR_028581;NR_028582 AAH02494;AAH21574;EAW51636;EAW51637;EAW51638;NP_612396;Q9BUM1 Hs.294005 2127527 WI-17645 SCN4;UGRP G-6-Pase 3;G6Pase 3;G6Pase-beta;glucose-6-phosphatase 3;glucose-6-phosphatase catalytic subunit 3;ubiquitous glucose-6-phosphatase catalytic subunit-related protein;ubiquitously expressed G6Pase catalytic subunit-related protein APPROVED protein-coding ENSG00000141349 24861 13556 611045;612541 REVIEWED 1318646 FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 19 19 p13.3 3473954 3489325 + 3506295 3536755 + 6480464;6907045 11598127;15469984;10548110;11340163;11931757;18662541;18381934;18321983;18212744;18174259;17339342;17283060;17215516;15489334;15057824;15014503;12797865;12560341;12477932;12198152;11691834;11003657;10574462;10500174;9811605;12956947;15916961;15144564;9734353;11988738;15029244;12791267;10793135;15014502;17130831;17187060;17942546;18372912;18573889;19477924;20581839;21135578;21903591;21986944;22580460;17403670;22580462;22654103;20530197;19861496;11459826;16287863;17207965;20921411;11459825;16169070;17719540;18162579;20508983;9637688;12097298;22990118;19483727;21439932;22949615;17001306;19686743;14701726;17227951;19822757;20064487;20360068;20663873;20937767;20966048;21139048;21186356;21890473;21906983;21963094;21937719;18029348;11562349;11751633;15923616;21212736;21596315;22529100;17609108;18485873;20395298;23091007;23226367;23239745;23263983;16921029;20383333;23029325;23029392;23042605 51343 K7EQT1;Q9Y2T8 AB013462;AB013463;AB033068;ABBA01002827;ABBA01002828;AC005786;AC005787;AF080397;AF083810;AF102507;AF102508;AF433157;AMYH01009313;BC013413;BC111760;BT007115;CH471139;DB462260;NM_001136197;NM_001136198;NM_016263 AAC62835;AAC62836;AAD26623;AAD26624;AAD52030;AAF20266;AAH13413;AAL28117;AAP35779;ABM81665;ADQ32810;BAA86556;BAA86954;BAA86955;EAW69313;EAW69314;EAW69315;NP_001129669;NP_001129670;NP_057347;Q9UM11 Hs.413133 CDC20C;CDH1;FZR;FZR2;HCDH;HCDH1;KIAA1242 CDC20-like 1b;CDC20-like protein 1;cdh1/Hct1 homolog;fizzy-related protein homolog protein-coding 24824 04687 603619 VALIDATED 1346544 G6PDL glucose-6-phosphate dehydrogenase-like 7240710 3752086 2540 4058 1347726 G6PR glucose-6-phosphatase regulator 2541 4059 1348449 G6PT2 glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2 9598717 2544 4062 1352161 G6PT3 glucose-6-phosphatase, transport (glucose) protein 3 2545 4063 1353103 G7P1 kinase-like protein 2546 4064 148750 1321062 G2E3 G2/M-phase specific E3 ubiquitin protein ligase 14 14 14 q12 10894160 10954826 + 30098128 30158797 + 31028329 31089046 + 1580863;6480464 14667819;18029348;18511420;17239372;16344560;16189514;15489334;14702039;12477932;11483598;10718198;8125298;21139048;21890473 55632 F5GX24;F8VQY7;F8VY49;F8W0F5;G3V3B6;G3V483;G3V5B6;H0YH90;H0YI49;Q7L622 AB037754;ABBA01061403;AI432917;AK000340;AK022867;AK093536;AK225346;AK295571;AK296872;AL117355;AMYH01005636;BC000973;BC008436;BC040179;CH471078;DA491192;NM_017769 AAH00973;AAH40179;BAA91095;BAA92571;BAB14280;BAG58471;BAG59435;EAW65969;NP_060239;Q7L622 Hs.509008;Hs.605081 1653426;1656534;1656536;1699452;1700854;1704170;1772218;1905794;2123233;2171390;2182298 A002A15;D14S1216;G09527;G19845;G35875;REN23702;RH103317;RH104053;RH68913;SHGC-36569;SHGC-79794 FLJ20333;KIAA1333;PHF7B G2/M phase-specific E3 ubiquitin-protein ligase;G2/M-phase specific E3 ubiquitin ligase;OTTHUMP00000178787;OTTHUMP00000243941;OTTHUMP00000244055;PHD finger protein 7B APPROVED protein-coding ENSG00000092140 20338 13851 611299 VALIDATED 1344189 G6PC2 glucose-6-phosphatase, catalytic, 2 This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 q24.3 169465996 169474756 + 169757750 169766510 + 6480464;6907045 19125775;19096518;19082990;19060910;19060907;18984742;18753309;18521185;18451265;17607665;17376840;16520917;16493034;16012821;15044018;14722102;12815107;12477932;11297555;10078554;10078553;20571754;20622168;20628598;20668700;19238352;19533084;19651812;19669124;19741163;19741166;19937311;20029179;20081858;20816152;20826583;20858683;21036910;21515849;22508271;22581228;22286219;22399527;22983906;22916037;22486180 57818 C9IYU7;Q9NQR9 ABBA01004959;ABBA01004960;AC069137;AF283575;AF283835;AK310853;AMYH01011242;BC104778;BC113376;BQ268961;CA865646;CH471058;CR627438;NG_011682;NM_001081686;NM_021176 AAF82810;AAI04779;AAI13377;AAY24099;ADR82936;CAH10524;EAX11291;NP_001075155;NP_066999;Q9NQR9 Hs.283963 1739149 D2S1914 IGRP;MGC141936 G-6-Pase 2;G6Pase 2;OTTHUMP00000163045;OTTHUMP00000207339;glucose-6-phosphatase 2;islet-specific G6CP-related protein;islet-specific glucose-6-phosphatase catalytic subunit-related protein;islet-specific glucose-6-phosphatase-related protein 2314777 GLUCO106_H APPROVED protein-coding 28906 16272 608058 REVIEWED 736011 G6PC glucose-6-phosphatase, catalytic subunit Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011] 17 17 q21 38306341 38318912 + 41052814 41066450 + 1582633;704404;728661;1580863;1300048;2302970;2302850;2302851;2315963;2315965;2315966;2315959;2315960;6480464;6484113;6907045;7240710 15138155;8865366;11440903;4303362;4353083;15448092;12595588;10866049;16396963;16176150 9428641;7573034;8211187;10318794;12093795;19587243;19082990;18847435;18805788;18660489;18449899;18008183;17354259;16893891;16892178;15918042;15696478;15661744;15316959;14759518;14718531;13129915;12560945;12556524;12477932;12444104;12373566;12189168;11739393;11672436;10960498;10748407;10612834;10452914;10447271;10094563;10026167;10024523;10023055;9705299;9675154;9332655;9001800;8733042;8640227;8612793;8182131;7774924;7668282;7655466;7623438;2986020;2547044;2172641;212064;175958;21328436;19832742;20004937;20509832;20301489;21109326;21733854;21988832;21983240 2538 K7ELS6;P35575 ABBA01006403;ABBA01006404;AC016889;AF051355;AK303771;AK313982;AMYH01008398;AW614228;BC130478;BC136369;CH471152;NG_011808;NM_000151;NM_001270397;U01120;X96937 AAA16222;AAD11621;AAI30479;AAI36370;ADR83154;BAG36695;BAG64735;CAA65638;EAW60901;EAW60902;NP_000142;NP_001257326;P35575 Hs.212293;Hs.742566 1647526;1847085;5016781;5017227 G38154;RH17972;SGC35243;SHGC-67307 G6PC1;G6PT;GSD1;GSD1a;MGC163350 G-6-Pase;G6Pase;G6Pase-alpha;glucose-6-phosphatase;glucose-6-phosphatase alpha APPROVED protein-coding 4056 01983 232200;613742 REVIEWED 1353554 GAB3 GRB2-associated binding protein 3 This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q28 154061594 154137916 - 153556720 153632542 - 153903526 153979348 - 6480464 12640125;11997510;11943184;11739737;19913121;20628086;12773374;19430480;20237496;18235045 139716 A6NHF8;H7C3J9;Q8WWW8 ABBA01029068;ABBA01029069;ABBA01029070;ABBA01029071;ABBA01029072;ABBA01029073;ABBA01029074;ABBA01029075;AC107450;AC109993;AC244107;AI799102;AK126283;AK307927;AL832051;AMYH01023318;AY057989;BQ574803;CH471172;CN481476;NG_012834;NM_001081573;NM_080612 AAI41540;AAL25825;BAG54302;EAW72664;EAW72665;EAW72666;EAW72667;NP_001075042;NP_542179;Q8WWW8 Hs.496982 1684644;1689270;1689915;1787302;1797552;1799310;1799524;1801256;1804766;1804824;1806332;1806512;1807022;1807154;1808512;1810828;1811620;1812240;1812578;1813384;1814136;1815156;1818428;1818430;1818934;1820714;1821054;1822712;1824952;1825598;1826074;1826776;1827876;1827976;1828364;1828440;1828872;1829614;1829616;1834980;1835140;1835566;1836406;1837560;1837998;1840204;1841566;1841762;1842390;1843042;1843272;1843588;1844032;1844318;1846024;2038384;2038386;2038388;2038390;2038392;2038394;2038396;2038398;2038400;2038402;2038404;2038406;2038408;2038410;2038412;2038414;2038416;2038418;2038420;2038422;2038424;2038426;2038428;2038430;2038432;2038434;2038436;2038438;2038440;2038442;2038444;2038446;2038448;2038450;2038452;2038454;2038456;2038458;2038460;2038462;2038464;2038466;2038468;2038470;2038472;2038474;2038476;2038478;2038480;2038482;2038484;2038486;2038488;2038490;2038492;2038494;2038496;2038498;2038500;2038502;2038504;2038506;2038508;2038510;2038512;2038514;2038516;2038518;2038520;2038522;2038524;2038526;2038528;2038530;2038532;2038534;2038536;2038538;2038540;2038542;2038544;2038546;2038548;2038550;2038552;2038554;2038556;2038558;2038560;2038562;2038564;2038566;2038568;2038570;2038572;2038574;2038576;2038578;2038580;2038582;2038584;2038586;2038588;2038590;2038592;2038594;2038596;2038598;2038600;2038602;2038604;2038606;2038608;2038610;2038612;2038614;2038616;2038618;2038620;2038622;2038624;2038626;2038628;2038630;2038632;2038634;2038636;2038638;2038640;2038642;2038644;2038646;2038648;2038650;2038652;2038654;2038656;2038658;2038660;2038662;2038664;2038666;2038668;2038670;2038672;2038674;2038676;2038678;2038680;2038682;2038684;2038686;2038688;2038690;2038692;2038694;2038696;2038698;2038700;2038702;2038704;2038706;2038708;2038710;2038712;2038714;2038716;2038718;2038720;2038722;2038724;2038726;2038728;2038730;2038732;2038734;2038736;2038738;2038740;2038742;2038744;2038746;2038748;2038750;2038752;2038754;2038756;2038758;2038760;2038762;2038764;2038766;2038768;2038770;2038772;2038774;2038776;2038778;2038780;2038782;2038784;2038786;2038788;2038790;2038792;2038794;2038796;2038798;2038800;2038802;2038804;2038806;2038808;2038810;2038812;2038814;2038816;2038818;2038820;2038822;2038824;2038826;2038828;2038830;2038832;2038834;2038836;2038838;2038840;2038842;2038844;2038846;2038848;2038850;2038852;2038854;2038856;2038858;2038860;2038862;2038864;2038866;2038868;2038870;2038872;2038874;2038876;2038878;2038880;2038882;2038884;2038886;2038888;2038890;2038892;2038894;2038896;2038898;2038900;2038902;2038904;2038906;2038908;2038910;2038912;2038914;2038916;2038918;2038920;2038922;2038924;2038926;2038928;2038930;2038932;2038934;2038936;2038938;2038940;2038942;2038944;2038946;2038948;2038950;2038952;2038954;2038956;2038958;2038960;2038962;2038964;2038966;2038968;2038970;2038972;2038974;2038976;2038978;2038980;2038982;2038984;2038986;2038988;2038990;2038992;2038994;2038996;2038998;2039000;2039002;2039004;2039006;2039008;2039010;2039012;2039014;2039016;2039018;2039020;2039022;2039024;2039026;2039028;2039030;2039032;2102794;2102796;2102798;2102800;2102802;2102804;2102806;2102808;2102810;2102812;2102814;2102816;2102818;2102820;2102822;2102824;2102826;2102828;2102830;2102832;2102834;2102836;2102838;2102840;2102842;2102844;2102846;2102848;2102850;2102852;2102854;2102856;2102858;2102860;2102862;2102864;2102866;2102868;2102870;2102872;2102874;2102876;2170875 ECD00503;ECD00614;ECD01500;ECD03315;ECD03346;ECD04121;ECD04213;ECD04476;ECD04543;ECD05238;ECD06412;ECD06813;ECD07127;ECD07299;ECD07713;ECD08097;ECD08612;ECD10273;ECD10274;ECD10531;ECD11432;ECD11604;ECD12444;ECD13575;ECD13907;ECD14146;ECD14503;ECD15061;ECD15111;ECD15308;ECD15346;ECD15563;ECD15938;ECD15939;ECD18641;ECD18725;ECD18939;ECD19365;ECD19947;ECD20170;ECD21286;ECD21980;ECD22080;ECD22398;ECD22729;ECD22844;ECD23004;ECD23229;ECD23373;ECD24232;GAB3_1528;REN90211;REN90212;REN90213;REN90214;REN90215;REN90216;REN90217;REN90218;REN90219;REN90220;REN90221;REN90222;REN90223;REN90224;REN90225;REN90226;REN90227;REN90228;REN90229;REN90230;REN90231;REN90232;REN90233;REN90234;REN90235;REN90236;REN90237;REN90238;REN90239;REN90240;REN90241;REN90242;REN90243;REN90244;REN90245;REN90246;REN90247;REN90248;REN90249;REN90250;REN90251;REN90252;REN90253;REN90254;REN90255;REN90256;REN90257;REN90258;REN90259;REN90260;REN90261;REN90262;REN90263;REN90264;REN90265;REN90266;REN90267;REN90268;REN90269;REN90271;REN90272;REN90273;REN90274;REN90275;REN90276;REN90277;REN90278;REN90279;REN90280;REN90281;REN90282;REN90283;REN90284;REN90285;REN90286;REN90287;REN90288;REN90289;REN90290;REN90291;REN90292;REN90293;REN90294;REN90295;REN90296;REN90297;REN90298;REN90299;REN90300;REN90301;REN90302;REN90303;REN90304;REN90305;REN90306;REN90307;REN90308;REN90309;REN90310;REN90311;REN90312;REN90313;REN90314;REN90315;REN90316;REN90317;REN90318;REN90319;REN90320;REN90321;REN90322;REN90323;REN90324;REN90325;REN90326;REN90327;REN90328;REN90329;REN90330;REN90331;REN90332;REN90333;REN90334;REN90335;REN90336;REN90337;REN90338;REN90339;REN90340;REN90341;REN90342;REN90343;REN90344;REN90345;REN90346;REN90347;REN90348;REN90349;REN90350;REN90351;REN90352;REN90353;REN90354;REN90355;REN90356;REN90357;REN90358;REN90359;REN90360;REN90361;REN90362;REN90363;REN90364;REN90365;REN90366;REN90367;REN90368;REN90369;REN90370;REN90371;REN90372;REN90373;REN90374;REN90375;REN90376;REN90377;REN90378;REN90379;REN90380;REN90381;REN90382;REN90383;REN90384;REN90385;REN90386;REN90387;REN90388;REN90389;REN90390;REN90391;REN90392;REN90393;REN90394;REN90395;REN90396;REN90397;REN90398;REN90399;REN90400;REN90401;REN90402;REN90403;REN90404;REN90405;REN90406;REN90407;REN90408;REN90409;REN90410;REN90411;REN90412;REN90413;REN90414;REN90415;REN90416;REN90417;REN90418;REN90419;REN90420;REN90421;REN90422;REN90423;REN90424;REN90425;REN90426;REN90427;REN90428;REN90429;REN90430;REN90431;REN90432;REN90433;REN90434;REN90435;REN90436;REN90437;REN90438;REN90439;REN90440;REN90441;REN90442;REN90443;REN90444;REN90445;REN90446;REN90447;REN90448;REN90449;REN90450;REN90451;REN90452;REN90453;REN90454;REN90455;REN90456;REN90457;REN90458;REN90459;REN90460;REN90461;REN90462;REN90463;REN90464;REN90465;REN90466;REN90467;REN90468;REN90469;REN90470;REN90471;REN90472;REN90473;REN90474;REN90475;REN90476;REN90477;REN90478;REN90479;REN90480;REN90481;REN90482;REN90483;REN90484;REN90485;REN90486;REN90487;REN90488;REN90489;REN90491;REN90492;REN90493;REN90494;REN90495;REN90496;REN90497;REN90498;REN90499;REN90500;REN90501;REN90502;REN90503;REN90504;REN90505;REN90506;REN90507;REN90508;REN90509;REN90510;REN90511;REN90512;REN90513;REN90514;REN90515;REN90516;REN90517;REN90518;REN90519;REN90520;REN90521;REN90522;REN90523;REN90524;REN90525;REN90526;REN90527;REN90528;REN90529;REN90530;REN90531;REN90532;REN90533;REN90534;REN90535;REN90536;REN90537;RH69764;RH80376;RH80611;RH99020;SHGC-149514;stSG604223;stSG604224;stSG604225;stSG604226;stSG604228;stSG604229;stSG604230;stSG604231;stSG604232;stSG604233;stSG604234;stSG604235;stSG604236;stSG604237;stSG604238;stSG604240;stSG604241;stSG604242;stSG604243;stSG604244;stSG604245;stSG604246;stSG604247;stSG604248;stSG604249;stSG604250;stSG604251;stSG604252;stSG604253;stSG604254;stSG604255;stSG604256;stSG604257;stSG604258;stSG604259;stSG604260;stSG604261;stSG604262;stSG604263;stSG604264;stSG604265;stSG604267 DOS/Gab family member 3;GRB2-associated binder 3;GRB2-associated-binding protein 3;Gab3 scaffolding protein;OTTHUMP00000026055;OTTHUMP00000026056;OTTHUMP00000225955;growth factor receptor bound protein 2-associated protein 3 APPROVED protein-coding ENSG00000160219 17515 06571 300482 REVIEWED 1350229 GAB4 GRB2-associated binding protein family, member 4 22 22 22 q11.1 1065098 1111384 - 15822826 15869112 - 17442826 17489112 - 19240061;14702039 128954 H0YB31;Q2WGN9 AB076978;ABBA01001460;AC006548;AK057252;AMYH01012423;CH471193;HC044765;NM_001037814 BAD06454;CBH30712;EAW57735;NP_001032903;Q2WGN9 Hs.434113 GAB2-like;GRB2-associated binder 2-like protein;GRB2-associated binder 4;GRB2-associated-binding protein 2-like;GRB2-associated-binding protein 4;OTTHUMP00000195887;growth factor receptor bound protein 2-associated protein 4 protein-coding ENSG00000215568 18325 PROVISIONAL 1602228 G3BP2 GTPase activating protein (SH3 domain) binding protein 2 4 4 4 q21.1 73864091 73894093 - 76786990 76817629 - 76567953 76598667 - 6480464 17353931;9575347;17297477;10969074;17081983;16344560;16341674;15782174;15489334;15345747;12477932;9734811;9110174;8619474;21145461;21319273;16973615;17474147;18029348;19615732;21963094;23000965;23087212;16055720;23181366;23383273;20811636;21182205;16196087;15717329;18781797;19471022;21139048;21890473;21906983;21985131;17620599;17361185;19322201;21628590;22536444;22190034;22505724;23279204 9908 D6R9A4;D6R9X5;D6RAC7;D6RB17;D6RBM9;D6RBR0;D6RBW8;D6RE13;D6REX8;D6RGJ4;H0YAE3;Q9UN86 AA781267;AB014560;ABBA01063345;ABBA01063346;AC104828;AF051311;AF053535;AF070615;AF145284;AI913597;AK291772;AK291786;AMYH01014305;BC011731;BI560692;BM744299;CB996973;CD706717;CH471057;DA094091;DA385285;DB241424;NM_012297;NM_203504;NM_203505 AAC15705;AAC95292;AAD51932;AAH11731;BAA31635;BAF84461;BAF84475;EAX05742;EAX05743;EAX05744;EAX05745;EAX05746;EAX05747;EAX05748;NP_036429;NP_987100;NP_987101;Q9UN86 Hs.303676 1671827;1719955;1735420;1745999;1766215;2143118;2171992 D4S2596E;G16726;RH123956;RH125852;SHGC-149579;SHGC-59235;SHGC-59780 G3BP-2;GAP SH3 domain-binding protein 2;OTTHUMP00000160586;OTTHUMP00000160587;OTTHUMP00000160588;OTTHUMP00000219241;Ras-GTPase activating protein SH3 domain-binding protein 2;ras GTPase-activating protein-binding protein 2 protein-coding ENSG00000138757 30291 06570 VALIDATED 1604397 G3BP1 GTPase activating protein (SH3 domain) binding protein 1 This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 5 5 q33.1 151131669 151165108 + 151151476 151184915 + 6480464 9889278;8649363;17696235;17297477;17210633;17081983;16996479;16565220;16094384;15782174;15602692;15489334;15471883;15302935;15144186;14702039;12642610;12477932;11888885;11604510;11439350;10404389;9632780;8125298;1461655;17353931;21145461;17620012;21266361;20424128;23087212;20562859;20696395;20663914;20643132;15743820;17253181;18029348;19615732;20180778;16055720;18079183;21206022;21257637;23163895;21304914;21182205;21832049;22863883;22939629;22990118;16196087;19135240;21665939;18781797;22205990;21139048;21890473;21906983;22145905;17620599;22446626;22586326;16009940;17361185;19322201;21628590;19738201;21963094;21988832;22623428;22767504;23000965;23151878;22833567;23230274;17725712;22190034;22505724;23279204 10146 E5RH00;E5RH42;E5RI46;E5RIF8;E5RIZ6;E5RJU8;F5H4D6;Q13283;Q5HYE9;Q5U0Q1;Q6ZP53 ABBA01026260;ABBA01026261;AC091982;AK091592;AK130003;AK222606;AK300098;AK303580;AK309172;AK312572;AMYH01015713;BC006997;BC108278;BG703413;BT019384;BU517281;BX647869;BX648012;CH471062;CQ834172;CR536535;NM_005754;NM_198395;U32519;X78262 AAB07787;AAH06997;AAI08279;AAV38191;ABM83984;ABM87307;BAC85272;BAD96326;BAG35467;BAG61899;BAH13990;CAG38772;CAH05301;CAI46065;CAI46067;EAW61659;EAW61660;EAW61661;EAW61662;NP_005745;NP_938405;Q13283 Hs.587054 1667011;1672509;1673593;1683651;1754725;2142547;2145350;5014039;5022200;5022576;5024761;5117897;5125193;5125640 A006P05;D1S1361;D22S1584;GDB:631813;L18426;RH36905;RH48895;RH65262;RH93721;SGC31629;SHGC-133085;SHGC-64132;WI-11822;WI-20662 G3BP;HDH-VIII;MGC111040 ATP-dependent DNA helicase VIII;G3BP-1;GAP SH3 domain-binding protein 1;GAP binding protein;OTTHUMP00000160618;OTTHUMP00000224181;Ras-GTPase-activating protein SH3-domain-binding protein;RasGAP-associated endoribonuclease G3BP;ras GTPase-activating protein-binding protein 1 APPROVED protein-coding ENSG00000145907 30292 06569 608431 REVIEWED 737428 GAB2 GRB2-associated binding protein 2 This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009] 11 11 q14.1 77603990 77806414 - 77926336 78128868 - 704404;6480464;6484113;6907045 19342374;19276544;19262956;19233262;19204163;19172738;18854865;18853460;18697750;18644434;18314909;18272374;18235045;17998934;17553421;16736498;16369543;16253990;15952937;15750601;15356145;15010462;14687710;12819203;12522270;12477932;12140767;12135708;11997510;11971018;11895767;11882361;11830491;11812650;11782427;11701952;11572860;11466412;11402314;11334882;11287610;10752981;12008033;10704825;10455108;10391903;10068651;9628581;15143164;15574337;16135792;22856364;21118992;20634593;19913121;20534741;20574532;20628086;10871282;10913131;12176364;16219545;16344560;16368877;19118819;19509136;19523899;19641626;19838208;19881546;19924507;20188796;20237496;20413850;20936779;21102462;20888920;20087860;21108942;21552417;22859374;21653832;19909739;21996746;21285854;21706016;22851227;22883624;14982882;23401857;14530346;19380743;20697350 9846 E9PJ26;E9PJE2;Q9UQC2 AA865573;AB011143;AB018413;ABBA01017404;ABBA01017405;ABBA01017406;ABBA01017407;AI858080;AMYH01003826;AMYH01003827;AMYH01003828;AP002985;AP003086;BC131711;BC152459;BY799914;CH471076;DA674753;DB636423;NG_016171;NM_012296;NM_080491 AAI31712;AAI52460;BAA25497;BAA76737;EAW75057;EAW75058;NP_036428;NP_536739;Q9UQC2 Hs.429434 1645185;1659150;1662839;1670272;1686272;1719911;1721039;1729948;1737855;1762193;2145625;2183796 D11S1067;D11S3459;D16S399;G59501;L02008;RH123649;RH36097;RH92579;SHGC-146074;STS-T71628;WI-15100;WI-17046 KIAA0571 GRB2-associated-binding protein 2;Grb2-associated binder 2;OTTHUMP00000234012;OTTHUMP00000234013;growth factor receptor bound protein 2-associated protein 2;pp100 1643405 BMD9_H APPROVED protein-coding ENSG00000033327 14458 05866 606203 REVIEWED 1354441 GABARAPL3 GABA(A) receptors associated protein like 3, pseudogene 15 15 15 q26.1 67294098 67297018 - 88691728 88693766 - 90889759 90892679 - 1300523;1580863;6480464 11414770 22446963 23766 Q9BY60 ABBA01053054;AC018946;AF180519;AMYH01006921;CH471101;NR_028287 AAK16237;EAX02101;Q9BY60 Hs.592014 2154937 D12S1916 ATG8D APPROVED pseudo 4069 VALIDATED 736474 G6PD glucose-6-phosphate dehydrogenase This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q28 153412800 153428981 - 153759606 153775787 - 1599574;704404;1599812;1300048;1580863;1625539;2307345;2307350;2307352;2307353;2307337;2307347;2307348;2307349;2307340;2307361;6480464;6907045;7240710 2843500;1999409;15466941;16718375;19374165;18802767;18501200;19374864;15923630;15914531;12853069;19230846;17250641 20447239;18558634;16272653;15858258;5643703;5666113;17516514;12027950;17361089;2420826;18029348;11256614;743300;19640310;19594365;19589177;19422023;19419973;19359662;19336475;19323016;19317913;19272180;19224086;19223928;19219640;18985093;18677765;18660489;18494377;18493020;18458302;18376107;18302154;18226470;18215251;18173836;18164966;18086567;18066402;18056001;18046504;18043863;17959407;17660836;17653668;17611006;17587269;17557555;17524386;17499234;17264545;17077204;17018380;17007653;16944148;16934959;16927025;16859949;16792831;16637741;16607506;16569302;16532971;16483869;16461316;16356170;16331553;22364808;20528626;22012600;15466166;15330559;15315792;15307413;15282679;15223006;15476167;14757426;14757424;14614139;12972027;12921788;12850494;12768444;12737943;12737940;12737938;12696079;12680285;12665801;12641410;12616531;12588050;12524354;12497642;12477932;12439228;12380870;12378426;12135480;12130518;11920200;11877026;11876979;11874436;11857737;11852882;11793482;11499668;11440553;11237690;11112389;11042039;11024211;10745013;10698963;10627140;10089300;10087986;9233561;8826878;8733135;8533762;8490627;8466644;8364584;8356804;8193373;7959695;7858267;7857286;7825590;6696761;3515319;3446582;3393536;3126064;3012556;2912069;2910917;2836867;2758468;2428611;1945893;1889820;1874446;1611091;1536798;1303182;1303180;16236267;16155737;16143877;16137669;16136268;16088936;16059744;16020776;15957246;15951569;15906719;15906717;15864125;15772651;15766741;15748456;15727905;15718915;15659240;15598086;15592455;15558953;15506519;15489334;20949590;20602793;20628086;19913121;15622766;16255851;17637841;17877203;19465117;19497363;19632868;19811411;19858149;19896395;19941843;19996424;20007901;20017397;20032314;20113600;20200584;20203002;20459687;20507315;2297768;20118060;20236109;22139979;20713184;20684792;20621077;20582980;22431005;22537951;22958163;20514852;20520804;21125776;20927393;21376267;21205543;22906837;22939629;21376116;21302115;16335966;22863883;21397531;22117603;21157431;21549219;22165289;17623298;18781797;21139048;21507164;21890473;21906983;21987572;22906047;23185302;19738201;19805454;21963094;23000965;23233666;22768742;21180140;21507207;22963789;23146719;23446634;22307442;21853274;22505724;23065279;22848499;22770933 2539 E7EM57;E7EUI8;E9PD92;P11413 ABBA01045263;ABBA01045264;ABBA01045265;AC244090;AF277315;AK292304;AK302341;AL560686;AMYH01023318;AY158096;AY158097;AY158098;AY158099;AY158100;AY158101;AY158102;AY158103;AY158104;AY158105;AY158106;AY158107;AY158108;AY158109;AY158110;AY158111;AY158112;AY158113;AY158114;AY158115;AY158116;AY158117;AY158118;AY158119;AY158120;AY158121;AY158122;AY158123;AY158124;AY158125;AY158126;AY158127;AY158128;AY158129;AY158130;AY158131;AY158132;AY158133;AY158134;AY158135;AY158136;AY158137;AY158138;AY158139;AY158140;AY158141;AY158142;BC000337;CH471172;DQ173568;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173597;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;DQ832766;FB718764;FB719134;HB869941;HC892663;HC895939;HC898862;HC899672;HC903214;HC908383;HC915319;HC927350;L44140;M19866;M21248;M23423;M27940;M65234;NG_009015;NM_000402;NM_001042351;S58359;S64462;X03674;X53815;X55448 AAA52500;AAA52501;AAA52504;AAA63175;AAA92653;AAB20299;AAB26169;AAB59390;AAH00337;AAL27011;AAN76367;AAN76368;AAN76369;AAN76370;AAN76371;AAN76372;AAN76373;AAN76374;AAN76375;AAN76376;AAN76377;AAN76378;AAN76379;AAN76380;AAN76381;AAN76382;AAN76383;AAN76384;AAN76385;AAN76386;AAN76387;AAN76388;AAN76389;AAN76390;AAN76391;AAN76392;AAN76393;AAN76394;AAN76395;AAN76396;AAN76397;AAN76398;AAN76399;AAN76400;AAN76401;AAN76402;AAN76403;AAN76404;AAN76405;AAN76406;AAN76407;AAN76408;AAN76409;AAN76410;AAN76411;AAN76412;AAN76413;ABB90566;ABC25732;ABC25737;ABC25742;ABC25747;ABC25752;ABC25757;ABC25761;ABC25766;ABC25771;ABC25776;ABC25781;ABC25786;ABC25791;ABC25796;ABC25801;ABC25806;ABC25811;ABC25816;ABC25821;ABC25826;ABC25831;ABC25836;ABC25841;ABC25846;ABC25851;ABC25856;ABC25861;ABC25866;ABC25871;ABC25876;ABC25881;ABC25886;ABC25891;ABC25896;ABC25901;ABC25906;ABC25911;ABC25916;ABC25921;ABC25926;ABC25931;ABC25936;ABC25941;ABC25946;ABC25951;ABC25956;ABC25961;ABC25966;ABC25971;ABC25976;ABC25981;ABH03569;ABM83145;ABM86341;BAF84993;BAG63669;CAA27309;CAA37811;CAA39089;CAS91929;CAS92163;CBF59097;CBN60799;CBN62406;CBN63835;CBN64257;CBN66061;CBN68546;CBN71894;CBU84341;EAW72682;EAW72683;EAW72684;EAW72685;EAW72686;EAW72687;NP_000393;NP_001035810;P11413 Hs.461047;Hs.684904 1702240;1740925;1740927;1741735;1744547;1748051;1748053;1748069;1795078;1807554;1809078;1810762;1811792;1812094;1812576;1812932;1817286;1817988;1818490;1819510;1822790;1830532;1832248;1838318;1840956;1843212;1844316;2037848;2037850;2037852;2037854;2037856;2037858;2037860;2037862;2037864;2037866;2037868;2037870;2037872;2037874;2037876;2037878;2037880;2037882;2037884;2037886;2037888;2037890;2037892;2037894;2037896;2037898;2037900;2037902;2037904;2037906;2037908;2037910;2037912;2037914;2037916;2037918;2037920;2037922;2037924;2037926;2037928;2037930;2037932;2037934;2037936;2037938;2037940;2037942;2037944;2037946;2037948;2037950;2037952;2037954;2037956;2037958;2037960;2037962;2037964;2037966;2037968;2037970;2037972;2037974;2037976;2037978;2037980;2037982;2037984;2102626;2102628;2102630;2102632;2102634;2102636;2102638;2102640;2102642;2102644;2102646;2102648;2102650;5119541;5119833 ECD04749;ECD05526;ECD06379;ECD06900;ECD07052;ECD07298;ECD07480;ECD09693;ECD10049;ECD10306;ECD10822;ECD12483;ECD16402;ECD17262;ECD20333;ECD21671;ECD22814;ECD23372;G65806;G65807;G65810;GDB:176313;GDB:176314;GDB:177106;GDB:182509;GDB:182510;GDB:452834;GDB:512991;PMC97176P1;REN89938;REN89939;REN89940;REN89941;REN89942;REN89943;REN89944;REN89945;REN89946;REN89947;REN89948;REN89949;REN89950;REN89951;REN89952;REN89953;REN89954;REN89955;REN89956;REN89957;REN89958;REN89959;REN89960;REN89961;REN89962;REN89963;REN89964;REN89965;REN89966;REN89967;REN89968;REN89969;REN89970;REN89971;REN89972;REN89973;REN89974;REN89975;REN89976;REN89977;REN89978;REN89979;REN89980;REN89981;REN89982;REN89983;REN89984;REN89985;REN89986;REN89987;REN89988;REN89989;REN89990;REN89991;REN89992;REN89993;REN89994;REN89995;REN89996;REN89997;REN89998;REN89999;REN90000;REN90001;REN90002;REN90003;REN90004;REN90005;REN90006;stSG604119;stSG604120;stSG604121;stSG604122;stSG604123;stSG604124;stSG604125;stSG604126;stSG604127;stSG604128;stSG604129;stSG604130;stSG604131 G6PD1 OTTHUMP00000026034;OTTHUMP00000026039;OTTHUMP00000196180;glucose-6-phosphate 1-dehydrogenase;glucose-6-phosphate dehydrogenase, G6PD APPROVED protein-coding ENSG00000160211 4057 02377 134700;305900;611162 REVIEWED 736805 GABARAP GABA(A) receptor-associated protein Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008] 17 17 p13.1 7084462 7086477 - 7143738 7145753 - 1580863;1643329;4890444;6480464;6907045 15325588;20562859 17353931;16874098;16339017;16303767;16169070;15977068;15695379;14625090;12507496;12477932;12367594;11997026;11979730;11948245;11890701;11885988;11875056;11825910;11779480;11729197;11727986;11727985;11461150;11414770;11042152;10984509;10931946;10900017;10899939;10856287;9892355;11096062;11146101;15169837;19154346;18638487;17581966;17164261;20665069;19250911;19363302;19533740;20111057;20820800;22939629;20639871;21139048;19056683;21376781;21383079;21617041;21684337;20010802;20706999;21890473;23721406;22505724;23043107 11337 H6UMI1;I3L236;I3L3J4;O95166;Q6IAW1 AB030711;ABBA01054856;AC120057;AF044671;AF067171;AF161586;AF183425;AK098634;AK312205;AMYH01008075;BC106748;BC106749;CH471108;CR457043;CR542235;JN663880;NM_007278;U65413 AAD02337;AAD32455;AAD47641;AAG09694;AAI06749;AAI06750;AEZ06293;BAB21549;BAG35138;CAG33324;CAG47031;EAW90234;EAW90238;NP_009209;O95166 Hs.647421 1678137;1687976;1725687 G62047;RH26918;RH79691 ATG8A;FLJ25768;GABARAP-a;MGC120154;MGC120155;MM46 OTTHUMP00000128350;gamma-aminobutyric acid receptor associated protein;gamma-aminobutyric acid receptor-associated protein APPROVED protein-coding 4067 05496 605125 REVIEWED 1353184 GAA glucosidase, alpha; acid This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q25.2-q25.3 75689950 75708274 + 78075355 78093679 + 1580863;6480464;6907045;7240710 18429042;8486380;9505277;10931430;7717400;18757064;18607768;18458862;22658377;23000108;18425781;18301443;18285536;17915575;17616415;17592248;17293352;17213836;17210890;17092519;17056254;16917947;16782080;16433701;16335952;15993875;15668445;15520017;15489334;15313146;15145338;14695532;12923862;12754519;12601120;12477932;12065598;11973631;11854868;11738358;11071489;11027569;10737124;10338092;10206684;10189220;9660056;9554747;9535769;9521422;8935410;8912788;8834250;8786092;8558570;8435067;8401535;8094613;7981676;7945303;7881425;7881422;7866409;7695647;7603530;3049072;2268276;2203258;2111708;1898413;1856189;1684505;1652892;8093218;3264072;3099781;2829950;1736542;1704656;11530211;9109416;8673525;2649653;2542563;2541446;2187500;2825177;1678778;12560567;11752220;8794362;8794361;8416962;2959866;16547752;12719582;8218172;2355006;2283726;2136376;2076345;19913121;20628086;16052631;19343043;19362502;19609281;19834502;20080426;20301438;20350966;21484825;21039225;22939629;21139048;21982629;21988832;18215327;18314154;18330979;22268729;22644586 2548 I3L0S5;I3L2V9;I3L3L3;P10253 ABBA01015410;ABBA01015411;AC087741;AK299462;AMYH01008692;AW515241;BC015908;BC040431;BQ711289;CH471099;DQ907243;M34424;M34425;NG_009822;NM_000152;NM_001079803;NM_001079804;S76893;X55079;X55080;Y00839 AAA52506;AAB33842;AAH40431;ABI53718;BAH13042;CAA68763;CAA68764;CAC12967;EAW89581;EAW89582;EAW89583;NP_000143;NP_001073271;NP_001073272;P10253 Hs.1437 1675606;1682884;1684991;1741207;2169055;2178428;5119719 G07071;GDB:178578;GDB:180941;GDB:371877;RH79901;RH92754;RH98689 LYAG acid maltase;aglucosidase alfa;lysosomal alpha-glucosidase APPROVED protein-coding ENSG00000171298 4065 06006 232300;606800 REVIEWED 1322354 GAB1 GRB2-associated binding protein 1 The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 4 4 q31.21 144477500 144610729 + 144257983 144395718 + 1642762;2299174;6480464;6484113;6907045 14685170;18175071 8596638;9658397;19167335;9356464;10648629;10734310;10913131;11606067;14560030;14665621;15574420;19233262;18577518;18192688;18003605;17625596;17211494;17178724;17145761;16849525;16787925;16687399;16344560;15952937;15940252;15815621;15665327;15489334;15379552;15351743;15010462;14702039;14701753;12855672;12808090;12766170;12522270;12486104;12477932;12370245;12138161;12065326;11960376;11940581;11896055;11707404;11701952;11507676;11432805;11360177;11323411;11314042;11278704;11134009;10995442;10978177;10753869;10747014;10068651;10022866;9890893;9878555;9252406;9242692;9891995;12748184;12819203;12582165;11894096;19913121;20602450;20628086;20677014;20723025;10455108;10871282;11353842;11402314;12008033;12773374;14660651;14973141;14982882;16638574;19665053;19881549;20005866;20237496;9045692;12176364;20936779;22366451;21282639;22751113;23824909;21782801;22536782;22865653;22915589;21804548;20467438;21706016;22851227;22883624;18271526;19380743;9804835 2549 B7Z3B9;D6RF42;D6RIF8;D6RIS0;H0Y8F4;H0YA71;Q13480;Q9HA84 ABBA01070001;ABBA01070002;ABBA01070003;AC097658;AC104685;AK022142;AK074381;AK289767;AK295684;AK314635;AL049449;AMYH01014582;AMYH01014583;BC030115;BC064848;CH471056;DA109618;DA249555;DQ021880;JA780910;JA780912;NM_002039;NM_207123;U43885 AAC50380;AAH64848;AAY26398;AAY40964;BAB13970;BAB85065;BAF82456;BAH12155;CCH22599;CCH22600;EAX05072;EAX05073;NP_002030;NP_997006;Q13480 Hs.618456;Hs.80720 1336019;1665267;1669145;1726765;1774329;1847718;2142262;2153351;2159652;2169519;2174659;2217354;5015959;5109281 D10S2448;D1S1425;D4S2556E;D4S2981;G21559;G62770;GAB1_2841;SHGC-59721;SHGC-59759;SHGC-59824;SHGC-67599;SHGC-67681;STS-R83162;STS-U43885 GRB2-associated binder 1;GRB2-associated-binding protein 1;OTTHUMP00000220213;OTTHUMP00000220262;OTTHUMP00000220263;growth factor receptor bound protein 2-associated protein 1 APPROVED protein-coding ENSG00000109458 4066 05116 604439 REVIEWED 1605717 GABPAP GA binding protein transcription factor, alpha subunit pseudogene 7 7 7 q11.2 57072286 57077130 + 62990965 62992680 + 63353444 63358288 + 10393246;8441384;8125298;7958862;7737900;23459443 8327 ABBA01027966;AC092634;AF078104;AMYH01017427;NG_007342 1669124;1672810;1688164 D21S1963;RH69339;SHGC-52145 E4TF1;E4TF1B;GABPB1 pseudo 4072 INFERRED 1317596 GABARAPL1 GABA(A) receptor-associated protein like 1 12 12 p13.2 10256756 10266994 + 10365489 10375727 + 1300523;1580863;4890444;6480464;6907045 11414770;20562859 22120110;9892355;15292400;11256614;19001416;16704426;16431922;16381901;16189514;15489336;15489334;14702039;14625090;12477932;11374880;11230166;11076863;8495796;19250911;20628624;15604093;19549685;20197771;18541383;21620860;21893048;18296641;21597319;21890473;21617041;22354992;22505724;23043107;20010802;23721406 23710 F5GX12;F5GYD9;F5GZY7;F5H007;G3V1T7;Q9H0R8 ABBA01067800;ABBA01067801;ABBA01067802;AC115676;AF087847;AF287012;AK056846;AK074195;AK092075;AK124150;AK303581;AK315418;AL136676;AMYH01004276;BC008891;BC009309;BC028315;BX648781;CH471094;CR533480;JN663881;NM_031412 AAH09309;AAH28315;AAK20399;AAK55962;ABM84029;ABM87374;AEZ06294;BAG37807;BAG64599;CAB66611;CAG38511;CAL38063;CAL38067;EAW96164;EAW96165;EAW96166;EAW96167;EAW96168;EAW96169;EAW96170;NP_113600;Q9H0R8 Hs.524250 1681199;2154937 D12S1916;RH99039 APG8-LIKE;APG8L;ATG8;ATG8B;ATG8L;GEC1 GABA(A) receptor-associated protein-like 1;GABARAPL1-a;GEC-1;OTTHUMP00000238740;OTTHUMP00000238807;OTTHUMP00000238820;early estrogen-regulated protein;gamma-aminobutyric acid receptor-associated protein-like 1;glandular epithelial cell protein 1 protein-coding ENSG00000139112 4068 07601 607420 VALIDATED 6768893 GABPB1-AS1 GABPB1 antisense RNA 1 15 q21.2 50646371 50650509 + 12477932 100129387 ABBA01039115;AC022087;AMYH01006636;BC004103;BC014238;BX537481;NG_029475;NR_024490 Hs.659360;Hs.720669 1668555;1697408;1707906;5020274;5021872;5022200;5022651;5024272 D11S2921;D2S1254;L18426;L18441;RH102204;SHGC-57070;SHGC-82203;sY3084 APPROVED miscrna 44157 VALIDATED 735450 GABARAPL2 GABA(A) receptor-associated protein-like 2 16 16 q22.1 74157750 74169280 + 75600249 75611779 + 1300523;1643329;4890444;6480464;6907045 11414770;15325588;20562859 15489334;10747018;12507496;15169837;11256614;18776740;18768753;16381901;16303767;16189514;15489336;12477932;12473658;11890701;11146101;11076863;17353931;16169070;12581858;21177865;20029029;11096062;11825910;15604093;19250911;19533740;19844255;20468064;21497758;21832049;19056683;21669198;21684337;19322201;21383079;21460636;21617041;21900206;21139048;21890473;22354992;20010802;21988832;22421968;23142642;19635843;22885598;23043107;23112293 11345 H3BQ50;H3BSM5;H3BU36;P60520 AB030710;ABBA01017057;AC025287;AF077046;AF087848;AJ010569;AK289788;AK311266;AMYH01007821;BC005985;BC014594;BC029601;BC040312;CH471114;CR542217;NM_007285 AAD27779;AAH05985;AAH14594;AAH29601;AAK20400;ABM84027;ABM87372;BAB21548;BAF82477;CAA09249;CAG47013;CAL38202;EAW95629;EAW95630;NP_009216;P60520 Hs.461379 1649920;1776327;5119486 D1S3415;D20S1078;NIB1153 ATG8;ATG8C;GATE-16;GATE16;GEF-2;GEF2 GEF-2;MAP1 light chain 3 related protein;MAP1 light chain 3-related protein;OTTHUMP00000174953;gaba(a) receptor-associated protein like 2;gamma-aminobutyric acid receptor-associated protein-like 2;ganglioside expression factor 2;general protein transport factor p16;golgi-associated ATPase enhancer of 16 kDa protein-coding ENSG00000034713 13291 16246 607452 VALIDATED 731754 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010] 9 9 q22.1-q22.3 100090187 100511300 - 101050364 101471479 - 1580863;6480464;7240710 18978678;18482426;17145756;16829628;15822905;15489334;15164053;14978362;14966130;14961561;14625043;12477932;11850456;11087824;10773016;10727622;10087195;10075644;16169070;15660124;11854302;10328880;9872316;19336370;19308021;19086053;19002745;20557420;20583170;20634891;17185339;16724110;19763258;20379614;20424473;7494864;9872317;2834384;18577758;20734064;22169202;21303731;21724853;21971078;22660477;22613715 9568 H9NIL8;O75899 AB015334;ABBA01042913;ABBA01042914;ABBA01042915;ABBA01042916;AF056085;AF069755;AF074483;AF095784;AF099033;AJ012188;AK308139;AL353782;AL356282;AL445495;AL591502;AMYH01021561;AMYH01021562;AMYH01021563;AMYH01021564;BC031317;BC035071;BC055425;BX420187;BX452140;CH471105;CS059179;DB474482;JQ308173;NG_016426;NM_005458 AAC63228;AAC99345;AAD03336;AAD30389;AAD45867;AAH35071;ABM82657;ABM85834;AFF59483;BAA34793;CAA09942;CAI79357;EAW58889;EAW58890;EAW58891;NP_005449;O75899 Hs.198612 1339050;1646824;1660042;1704126;1762013;1787014;1797638;2114054;2116172;2128507;2146330;2153645;2178988 D9S763;G10723;GPR51;GPR51_2329;RH17868;RH18328;RH18549;RH68438;SHGC-145933;SHGC-149617;SHGC-32035;SHGC-34267;SHGC-79744 FLJ36928;GABABR2;GPR51;GPRC3B;HG20;HRIHFB2099 G-protein coupled receptor 51;GABA-B receptor 2;GABA-B receptor, R2 subunit;GABA-B-R2;GABA-BR2;OTTHUMP00000021776;gamma-aminobutyric acid B receptor 2;gamma-aminobutyric acid type B receptor subunit 2;gb2 APPROVED protein-coding ENSG00000136928 4507 09552 188890;607340 REVIEWED 1321019 GABPB1 GA binding protein transcription factor, beta subunit 1 This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 q21.2 48356681 48434687 - 50569389 50647605 - 6480464 10675337;8441384;9016666;18660489;18020712;17726090;17357964;16713569;16412436;16344560;16189514;12477932;12016589;11953439;10585419;9792629;9461436;9242441;8816484;8383622;7958862;7799916;7737900;9857059;18029348;18343819;19060904;20028934;21076620;21609478;22939629;22053931 2553 F5H7I4;H0YMZ5;H0YNZ0;H9ZYI9;Q06547 ABBA01039115;ABBA01039116;ABBA01039117;AC022087;AI631183;AK301350;AK303901;AMYH01006636;BC016910;BC036080;BC050702;BE644609;BQ430343;BQ573816;BT006652;CB960428;CH471082;D13316;D13317;DA156248;DA502761;EU159454;JQ313901;NG_029475;NM_002041;NM_005254;NM_016654;NM_016655;NM_181427;U13045;U13046;U13047;U13048 AAA65707;AAA65708;AAA65709;AAA65710;AAH16910;AAH36080;AAH50702;AAP35298;ABM85058;ABV90874;ABZ92036;AFH41796;BAA02573;BAA02574;BAH13462;BAH14078;EAW77388;EAW77389;EAW77390;EAW77391;EAW77392;EAW77393;EAW77394;EAW77395;NP_002032;NP_005245;NP_057738;NP_057739;NP_852092;Q06547 Hs.654350 1654996;1668555;1697408;1707906;1751345;1754029;1855216;2120362;2159171;5114952 D15S1333;D15S1346;G27373;RH102204;RH1640;SHGC-105205;SHGC-132070;SHGC-57070;SHGC-82203;WI-20425 BABPB2;E4TF1;E4TF1-47;E4TF1-53;E4TF1B;GABPB;GABPB2;NRF2B1;NRF2B2 GA binding protein transcription factor beta subunit 1 transcript variant gamma-2;GA-binding protein subunit beta-1;GABP subunit beta-1;GABP subunit beta-2;GABPB-1;GABPB-2;OTTHUMP00000162412;OTTHUMP00000162413;nuclear respiratory factor 2;transcription factor E4TF1-47;transcription factor E4TF1-53 APPROVED protein-coding ENSG00000104064 4074 15975 600610 REVIEWED 734108 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jun 2009] 6 6 p21.31 29677984 29708839 - 29570005 29600962 - 1580863;2315437;2315462;2315492;2315971;6480464 19054408;18338268;15153780;2849069 9933300;18403780;18355961;18255321;18098271;17971048;17591780;17412563;17264536;16829628;16499773;16344560;16176975;15946333;15863499;15857448;15820424;15799783;15759131;15685626;15489334;15482257;15474078;15309313;15304491;14978362;14966130;14961561;14759258;14718537;14707142;14643764;14625043;14574404;12923192;12770685;12645817;12601092;12555235;12477932;12130687;12115687;11844143;11178869;11140838;11087824;10906333;10773016;10587080;10402495;10075644;9069281;17474147;9753614;19086053;19052921;19002745;18653317;9889352;9872744;9872316;9844003;9798068;8125298;7927650;15660124;20557420;17185339;20538960;2834384;20655478;20655479;20655480;20655481;20655482;20655483;20655490;16169070;16724110;19327013;19664746;19763258;19851445;20036641;20378664;20379614;20398908;20468064;21124972;21932037;21303731;19850743;21621395;22321358;22722631;22660477;22412388;22613715;23007731;23192081;15174051;20195357;23391219 2550 B0UXY8;C9J342;C9JZG6;F8WAS6;F8WAV2;F8WDC0;F8WF38;Q5SUJ9;Q5SUL3;Q8IW08 AB065476;AB208790;ABBA01038033;AF099148;AF301005;AJ010170;AJ010171;AJ010172;AJ010173;AJ010174;AJ010175;AJ010176;AJ010177;AJ010178;AJ010179;AJ010180;AJ010181;AJ010182;AJ010183;AJ010184;AJ010185;AJ010186;AJ010187;AJ010188;AJ010189;AJ010190;AJ010191;AJ012185;AJ012186;AJ012187;AJ012288;AJ225028;AJ225029;AK223619;AK290191;AK312308;AL031983;AL645936;AL662826;AMYH01016195;AMYH01016196;BC023336;BC041332;BC042598;BC050532;BX000688;BX120002;CH471081;CR388210;CR759766;CR759870;CR788300;CR936483;CS059177;DA112662;DA400111;NG_029101;NM_001470;NM_021903;NM_021904;Y11044 AAC98508;AAG23962;AAH41332;AAH42598;AAH50532;BAC05730;BAD92027;BAD97339;BAF82880;BAG35233;CAA09031;CAA09939;CAA09940;CAA09941;CAA09980;CAA12359;CAA12360;CAA21453;CAA21454;CAI79356;EAX03205;EAX03206;EAX03207;EAX03208;EAX03209;EAX03210;EAX03211;EAX03212;NP_001461;NP_068703;NP_068704;Q9UBS5 Hs.167017 1739343;1773031;1789607;1847375;2120703;2175616;2183283;2187156;2220062 A002D34;D6S2270;D6S2871;D6S346E;G19983;JA06;RH45759;RH63712;WI-12368 FLJ92613;GABABR1;GABBR1-3;GB1;GPRC3A;dJ271M21.1.1;dJ271M21.1.2 GABA-B receptor 1;GABA-B-R1;GABA-BR1;GABAB, subunit 1c;OTTHUMP00000029114;OTTHUMP00000029115;OTTHUMP00000029116;OTTHUMP00000109099;OTTHUMP00000214725;gamma-aminobutyric acid type B receptor subunit 1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000204681 4070 04644 603540 REVIEWED 1321915 GABPA GA binding protein transcription factor, alpha subunit 60kDa This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010] 21 21 q21.3 26029570 26066213 + 27107258 27144771 + 1580863;6480464 8441384;10675337;7590737;18029348;9016666;19324871;19187944;19116932;18852034;18660489;18378679;18020712;17357964;17304221;17161026;16581781;16574658;15928042;15361867;12477932;12107413;11237613;10830953;10660899;10585419;9990060;9792629;9461436;8543189;8125298;7799916;7737900;16712791;9857059;19687146;19951946;20028934;17439941;8889548;21774808;20127517;11953439;22749526;21832049;22863883;22939629;21624509;21693764;21890473;21906983;19471022;19424503;21988832;22505724;23000965;23099293;19409485;22480519;23284628 2551 A8IE48;Q06546;Q8IYS3 ABBA01057211;ABBA01057212;AI917898;AK223164;AK313545;AMYH01012174;AP000087;AP000139;AP000226;BC035031;BG542623;BU683067;BX117934;BX647755;CB132898;CD674081;CH471079;CV575645;D13318;EU159453;EU627790;JQ313900;NM_001197297;NM_002040;U13044;X84366 AAA65706;AAH35031;ABV90873;ABZ92005;ACD11490;ACE87836;ACT64371;AFH41795;BAA02575;BAD96884;BAG36321;EAX09967;EAX09968;EAX09969;NP_001184226;NP_002031;Q06546 Hs.473470 1669124;1672810;1688164;1730847;1775725;5492084 D21S1963;D21S386;GABPA_8360;RH18000;RH69339;SHGC-52145 E4TF1-60;E4TF1A;NFT2;NRF2;NRF2A;RCH04A07 GA binding protein transcription factor alpha subunit 60kDa;GA-binding protein alpha chain;GABP subunit alpha;OTTHUMP00000096113;OTTHUMP00000096114;human nuclear respiratory factor-2 subunit alpha;nuclear respiratory factor 2 alpha subunit;nuclear respiratory factor 2 subunit alpha;transcription factor E4TF1-60 APPROVED protein-coding ENSG00000154727 4071 11793 600609 VALIDATED 1602655 GABPB2 GA binding protein transcription factor, beta subunit 2 1 1 1 q21.3 124158386 124206297 + 149309704 149359035 + 151043080 151091007 + 6480464 14702039;12477932;7958862;20237496;20379614;9857059;20800603 126626 Q5SZG2;Q8TAK5 ABBA01049368;ABBA01049369;ABBA01049370;ABBA01049371;ABBA01049372;ABBA01049373;ABBA01049374;ABBA01049375;ABBA01049376;ABBA01049377;ABBA01049378;AK092230;AK301882;AK313606;AL590133;AL592424;AL691467;AMYH01001386;BC027033;CH471121;NM_144618 AAH27033;BAC03833;BAG36371;BAG63315;EAW53473;EAW53474;EAW53475;NP_653219;Q8TAK5 Hs.654699 5022200;5037552;5037554 D8S2279;D8S2282;L18426 MGC29891;RP11-68I18.1 GA-binding protein subunit beta-2;GABP subunit beta-2;GABPB-2;OTTHUMP00000014044;OTTHUMP00000014077 protein-coding 28441 14536 VALIDATED 1349486 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 p12 45946463 46086702 - 46251575 46392056 - 1580863;6480257;6480256;6480464;7240710 15024690;16080114 20102561;8391122;19487630;19229201;19207358;19086053;19078961;18821008;18818659;18781239;18727688;18519829;18482426;18361719;18005236;17976953;17949392;17690794;17655760;17507911;17207817;16894595;16622805;16562401;16557364;16395124;15950776;15834213;15702134;15274050;15033447;14702039;12477932;10449790;10023064;8175718;21751815;19913121;20583128;20602615;20628086;19672139;19736351;19783384;19833324;19842164;19874574;20048764;20133874;20202923;20225194;20468064;20716301;20622020;20698837;22882390;22882391;21683760;21118274;22318606;22047728;11528422;21483437;22129841;20843900;21919924;22555154 2555 A8K0U7;B7Z1H8;D6RAA9;D6RB77;D6RBK9;D6RBL7;D6RCS5;E9PBQ7;G5E9Z6;H0Y9V8;P47869 A28100;AB209295;ABBA01014324;AC093745;AC095060;AC104072;AK125179;AK289662;AK293466;AK307128;AMYH01014155;AMYH01014156;BC022488;BX108394;CH471069;NG_012835;NM_000807;NM_001114175;S62907 AAB27278;AAH22488;AAY40994;ADZ15724;BAD92532;BAF82351;BAG54159;BAH11514;CAA01918;EAW93022;EAW93023;EAW93024;EAW93025;NP_000798;NP_001107647;P47869 Hs.116250 1335177;1341902;1663186;1704738;1788676;1795882;2125831;7183257;7184978 D4S3229;D4S396;D4S401;GABRA2_1265;RH106542;SHGC-67786;SHGC-79649 FLJ97076 GABA(A) receptor subunit alpha-2;GABA(A) receptor, alpha 2;OTTHUMP00000125268;OTTHUMP00000125269;OTTHUMP00000218332;OTTHUMP00000218333;OTTHUMP00000219668;OTTHUMP00000219670;gamma-aminobutyric acid receptor subunit alpha-2 APPROVED protein-coding ENSG00000151834 4076 11747 103780;137140 REVIEWED 734147 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011] 4 4 p12 46615674 46690337 - 46920917 46996424 - 1580863;6480464;6480254;6480253 16770606;20066485 8719416;19289452;19207358;19078961;18482426;18334916;17135278;22273344;17124266;16080114;14702039;12477932;12242096;12091471;10903861;8175718;7607683;19913121;20602615;20628086;19736351;19834535;19874574;20468064;10414349;15028279;21422964;21832049 2557 D6R924;D6RB66;P48169 ABBA01014330;ABBA01014331;AC107383;AF238869;AK090780;AMYH01014159;BC035055;BC036474;BC037926;BC042117;BI599812;CD013892;CD013893;CH471069;NG_011809;NM_000809;NM_001204266;NM_001204267;U20166;U30461 AAA74743;AAB52519;AAH35055;ABM82605;ABM85790;ABW03406;BAG52228;EAW93029;NP_000800;NP_001191195;NP_001191196;P48169 Hs.248112 1337541;1679618;1726995;1745741;1788678;2163508;5494197 D4S3242;D5Buc33;D5S1969;G62895;GDB:633093;RH106543;SHGC-67811 GABA(A) receptor subunit alpha-4;GABA(A) receptor, alpha 4;OTTHUMP00000125278;gamma-aminobutyric acid receptor subunit alpha-4 APPROVED protein-coding ENSG00000109158 4078 08839 137141 REVIEWED 732437 GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] X X q28 151086290 151370487 - 151335634 151619831 - 1358628;1580863;1358391;6480464 9561979;11840313 8391122;17474147;18029348;19086053;19084931;19078961;19058789;18821008;18334916;18085588;17970773;16344560;15489334;15048654;15033447;14751442;12477932;11602034;11528422;11378843;11140838;10602120;9655866;9380754;8175718;2574000;2561974;19048400;19842164;19874574;20351714;20468064;20692323;21971078;20843900 2556 H7C3T9;P34903 A28102;ABBA01037292;ABBA01037293;ABBA01037294;ABBA01037295;ABBA01037296;ABBA01037297;ABBA01037298;ABBA01037299;ABBA01037300;ABBA01037301;ABBA01037302;ABBA01037303;ABBA01037304;ABBA01037305;ABBA01037306;ABBA01037307;ABBA01037308;ABBA01037309;ABBA01037310;ABBA01037311;ABBA01037312;ABBA01037313;ABBA01037314;ABBA01037315;AC108171;AC116666;AF166361;AF282854;AK312404;AMYH01023231;AMYH01023232;AMYH01023233;AMYH01023234;BC028629;CH471169;DA402645;NG_007102;NM_000808;S62908 AAB27279;AAG12455;AAH28629;ABM83334;ABM86547;BAG35318;CAA01919;EAW99423;NP_000799;P34903 Hs.123024 1701890;1703142;1741317;1758055;1773319;2217356 DXS7073;DXS7358;GABRA3_3360;GDB:452932;RH106545;SHGC-147223 MGC33793 GABA(A) receptor subunit alpha-3;GABA(A) receptor, alpha 3;OTTHUMP00000025897;OTTHUMP00000025898;gamma-aminobutyric acid receptor subunit alpha-3;gamma-animobutyric acid (GABA) A receptor, alpha 3 APPROVED protein-coding 4077 02375 305660 REVIEWED 736048 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008] 15 15 q12 24742696 24776749 + 27111866 27194357 + 1358630;1358629;1580863;1358391;6480464;6480253 9514592;9267853;11840313;20066485 1321750;19328558;19086053;19078961;19058789;17957331;17680603;17580321;17353214;16674551;16080114;15882799;15489334;15033447;12477932;12048673;11378843;11287792;11140838;9668167;9205108;9126483;8388764;7851879;1338907;19913121;20628086;16344560;19736351;20468064;20692323;21751815;17370265;20843900 2558 AAB22608;G3V296;G3V2G8;G3V2K2;G3V2Q9;G3V2Y5;G3V408;P31644 A28104;ABBA01044310;ABBA01044311;ABBA01048710;ABBA01048711;ABBA01048712;ABBA01048713;AC127511;AC135999;AC136992;AC145167;AC145196;AF061785;AF228447;AF228448;AF228449;AK290453;AK294303;AK303742;AMYH01006492;BC011403;BC111979;BC113422;BT009830;CH471151;DA157081;DB506215;EU606048;L08485;NG_032883;NM_000810;NM_001165037;R49008 AAA58490;AAB22608;AAC31809;AAF62508;AAF62509;AAF62510;AAI11980;AAI13423;AAP88832;ABM85193;ABW03702;ADR83173;BAF83142;BAG57584;BAG64714;CAA01920;EAW57656;EAW57657;NP_000801;NP_001158509;P31644 Hs.24969 1674719;1797556;2139441 D15S1192;GABRA5_652;STS-L08485 MGC138184 GABA(A) receptor subunit alpha-5;GABA(A) receptor, alpha 5;OTTHUMP00000246892;OTTHUMP00000246893;gamma-aminobutyric acid receptor subunit alpha-5 APPROVED protein-coding ENSG00000186297 4079 08840 137142 REVIEWED 730902 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 q34 161206983 161258992 + 161274197 161326965 + 1580863;704404;6480237;6480464;7240710 15929193 2465923;19219857;19086053;19078961;18922788;18821008;18818659;18723504;18639864;18534981;18292428;18197653;17972043;17880575;17670950;17440936;17360668;17011586;16839746;16792556;16778401;16770606;16627470;16569738;16530959;16412095;16344560;16294320;16172613;16123039;16029191;15955415;15542698;15489334;15201329;15196679;15033447;15016806;14996540;14961561;14706423;14631097;14625018;14569258;12645817;12529644;12477932;12367612;12367595;12232773;12225856;12210273;12091471;11992121;11140838;10512150;10449790;10050966;9655866;8175718;8133292;8125298;2847710;1330891;19913121;20583128;20628086;20132297;20427410;12574411;19705103;19944766;20083606;20356767;20468064;20551311;20692323;20940303;21209255;21057732;21343285;23308109;21714819;21751815;21903587;21729720;22038115;22393585;22563490;11528422;20848605;22080424;22470130;20843900;22243422;22214903;21677653;22883737 2554 A8K177;E5RHL6;E5RJS3;E5RK60;P14867 ABBA01044200;ABBA01044201;AC021079;AC108130;AK223447;AK289792;AK295160;AMYH01015765;AV720972;AW148652;BC030696;BM927274;CH471062;DA075784;DA228536;DA232066;DB485936;DB487114;DC307259;DC325179;DC334834;NG_011548;NM_000806;NM_001127643;NM_001127644;NM_001127645;NM_001127646;NM_001127647;NM_001127648;R60404;S69334;X13584;X14766 AAH30696;ABM81841;BAD97167;BAF82481;BAG58174;CAA31925;CAA32874;EAW61537;EAW61538;EAW61539;NP_000797;NP_001121115;NP_001121116;NP_001121117;NP_001121118;NP_001121119;NP_001121120;P14867 Hs.175934 1719895;1742165;1797554;2140937;2156254;5115244 D5S1860;GABRA1_2274;L28408;RH106535;RH123641;WI-19171 ECA4;EJM;EJM5 GABA(A) receptor subunit alpha-1;GABA(A) receptor, alpha 1;OTTHUMP00000160870;OTTHUMP00000224392;OTTHUMP00000224393;OTTHUMP00000224394;gamma-aminobutyric acid receptor subunit alpha-1 APPROVED protein-coding ENSG00000022355 4075 00662 137160;611136 REVIEWED 732651 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] 5 5 q34 161045236 161062176 + 161112658 161129598 + 1580863;6480464 8632757;19086053;19078961;18616664;17440936;17295876;17167337;16778401;16402352;16344560;16172613;15542698;15489334;15466411;15197399;15196679;14744464;14702039;12477932;12232773;12080446;12079890;11140838;10023064;8175718;8020978;21420396;20583128;21041608;20100621;19523047;19598235;19842164;19874574;20468064;11528422;21930603;21902679 2559 E7EV53;H0YAS3;H0YBP3;H0YBS7;Q16445 ABBA01044201;ABBA01044202;AC091944;AF053072;AK090735;AK289461;AMYH01015765;BC096241;BC096242;BC099640;BC099641;CH471062;DA068807;NM_000811;S81944 AAB36480;AAD19830;AAH96241;AAH96242;AAH99640;AAH99641;BAF82150;BAG52222;EAW61542;NP_000802;Q16445 Hs.90791 1788670;2125155 A006O34;RH106536 MGC116903;MGC116904 GABA subunit A receptor alpha 6;GABA(A) receptor subunit alpha-6;GABA(A) receptor, alpha 6;OTTHUMP00000160875;OTTHUMP00000224262;gamma-aminobutyric acid receptor subunit alpha-6 APPROVED protein-coding ENSG00000145863 4080 08841 137143 REVIEWED 731063 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008] 4 4 p12 46728336 47123202 + 47033295 47428462 + 1580863;6480237;6480253;6480464;6480254 15929193;20066485;16770606 21145461;2465923;19078961;18650446;18281286;17655760;16800828;16278087;15489334;15337300;12601092;12595241;12477932;11891318;11606067;11350968;11324945;11140838;11085308;10900018;10449790;10195104;10023064;8178835;8125298;2160058;1655634;1652891;1323140;1321150;15198677;19567891;19874574;20379614;20468064;21751815;22393585;11528422;20848605;20843900;17370265;21988832;23251661;23392927;22505724 2560 D6REL3;D6REM0;F5GXV5;P18505 ABBA01014331;ABBA01014332;ABBA01014333;ABBA01014334;ABBA01014335;AC097712;AC105394;AC107392;AF285168;AK225167;AK225686;AK293691;AK296023;AK307120;AK312720;AMYH01014159;BC022449;CH471069;DC352362;M59216;NM_000812;S70733;X14767 AAA35862;AAB30712;AAF88061;AAH22449;ABM83283;ABM84296;ABM86490;ABM87689;ABM87690;BAG35594;BAG57128;BAG58792;CAA32875;EAW93030;EAW93031;EAW93032;NP_000803;P18505 Hs.27283 1650604;1669349;1688548;1727545;1727647;1749695;1754773;1768573;1774553;1857762;2116773;2131952;2159020;2167837 D4S2534E;D4S2781;D4S2867;G33951;G63030;G63235;M59215;SHGC-111368;SHGC-33334;SHGC-59554;SHGC-67259;SHGC4-68;SHGC4-879;WI-19172 GABA(A) receptor subunit beta-1;GABA(A) receptor, beta 1;OTTHUMP00000125281;gamma-aminobutyric acid receptor subunit beta-1 APPROVED protein-coding ENSG00000163288 4081 15924 137190 REVIEWED 735355 GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008] 5 5 q34 160648014 160907708 - 160715436 160975130 - 1580863;6480464;6480256 16080114 8264558;19367581;19086053;19078961;18715757;18334916;18197653;18180429;17440936;17412563;17251430;17167345;16950232;16778401;16766085;16627470;16472798;16172613;15542698;15489334;15337300;15033447;15016806;14966130;14702039;14699426;14625018;14503638;12574411;12477932;12435728;12232773;12034717;11854302;11140951;11085308;10493732;10449790;10023064;9153573;8590827;8175718;7851879;7707873;1334482;1321150;20404824;21420396;11528422;20848605;20583128;15198677;17520021;18583979;19523047;19705103;19763268;19874574;19909288;20468064;20639197;20692323;20221451;20734064;21209255;20888417;21806616;19850743;21751815;20843900;21729720;17370265;22206711;23308109;22505724;23121119 2561 B7Z279;E7EV50;P47870 A28108;ABBA01044204;ABBA01044205;ABBA01044206;ABBA01044207;AC008712;AC022120;AC091882;AC091989;AK055125;AK289730;AK289815;AK294437;AK297609;AMYH01015765;BC036592;BC099705;BC099719;BC105639;CH471062;GU086163;NM_000813;NM_021911;S67368;S77553;S77554 AAB29370;AAB33982;AAB33983;AAH99705;AAH99719;AAI05640;ACY69094;BAF82419;BAF82504;BAH11765;BAH12626;CAA01922;EAW61543;EAW61544;NP_000804;NP_068711;P47870 Hs.303527 1339152;1340623;1709470;1710796;1717091;1724529;1735502;1746853;1780712;1780722;1788682;1797558;2111900;2113810;2114215;2156573;2184972 AB047609;D5S1626E;D5S1848;D5S1955;D5S2118;D5S2514;G64852;GABRB2_1986;RH106547;RH121463;RH122524;SHGC-81786;SHGC-84076;STS-S67368;WIAF-1561;bac51719T;bac51809S MGC119386;MGC119388;MGC119389 GABA(A) receptor subunit beta-2;GABA(A) receptor, beta 2;OTTHUMP00000160871;OTTHUMP00000160872;OTTHUMP00000224259;OTTHUMP00000224260;gamma-aminobutyric acid A receptor beta 2;gamma-aminobutyric acid receptor subunit beta-2 APPROVED protein-coding ENSG00000145864 4082 02578 600232 REVIEWED 68441 GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008] X X q28 150872252 150893807 - 151121596 151143151 - 1580863;6480464 9039914;19087248;19086053;19078961;17714454;17615250;17293408;15946973;15755675;14702039;12477932;12367593;10804200;10023064;9339354;9185540;9084408;19874574;20468064;17207965;20609421;21422964 2564 A8MT31;E7ET93;F2Z2H5;P78334;Q6PCD2 ABBA01037272;ABBA01037273;AF086385;AF274855;AK124085;AK299174;AK303072;AL603607;AMYH01023229;BC026337;BC047108;BC059376;CH471169;NG_012511;NM_004961;U66661;U92283;U92285;Y07637;Y09763;Y09764;Y09765 AAB49284;AAB94645;AAH26337;AAH47108;AAH59376;ADQ33039;BAG61220;BAG64188;CAA68914;CAA70903;CAA70904;EAW99414;EAW99415;EAW99416;EAW99417;EAW99418;EAW99419;NP_004952;P78334 Hs.22785 1655604;1723097;1795886;2161352;2163485 GABRE_119;RH11304;RH118462;STS-T27014;WI-17137 GABA(A) receptor subunit epsilon;GABA(A) receptor, epsilon;OTTHUMP00000025892;OTTHUMP00000025893;gamma-aminobutyric acid receptor subunit epsilon APPROVED protein-coding ENSG00000102287 4085 02104 300093 REVIEWED 732733 GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008] 4 4 4 p12 46488013 46574168 - 45732543 45820839 - 46037786 46126082 - 1580863;6480464 19426171;19086053;18818659;17976953;17507911;16080114;14702039;12477932;11948245;10449790;1321425;19078961;20583128;19019179;19736351;20379614;20468064;21919924;21750581 2565 Q8N1C3 ABBA01014323;AC095058;AC096592;AK122845;AK124800;AK289806;AK299884;AMYH01014153;AMYH01014154;AMYH01014155;BC031087;BX648937;CH471069;CR933628;NM_173536 AAH31087;ABM81902;ABM85076;BAF82495;BAG53758;BAG61731;CAI45936;EAW93021;NP_775807;Q8N1C3 Hs.375051 1698620;1785188;1785204;1788674 RH102865;RH106541;SHGC-83115;SHGC-85404 DKFZp686H2042;MGC33838 GABA(A) receptor subunit gamma-1;GABA(A) receptor, gamma;OTTHUMP00000158769;gamma-1 polypeptide;gamma-aminobutyric acid receptor subunit gamma-1 APPROVED protein-coding ENSG00000163285 4086 15923 137166 REVIEWED 733681 GABRD gamma-aminobutyric acid (GABA) A receptor, delta Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 p36.3 1940703 1952050 + 1950768 1962192 + 1580863;6480464;7240710 2176788;19289452;19086053;18406065;16713569;16710414;16344560;16256272;16189514;16023832;15489334;15115768;12477932;12119096;10965146;20561060;19874574;21906983;21795619 2563 A8K496;O14764 ABBA01016082;AF016917;AI828107;AI936907;AK290861;AL391845;AMYH01000163;AW291520;BC033801;BI824761;CH471183;DA060315;DA064930;NG_008168;NM_000815 AAB70007;AAH33801;ABM82976;BAF83550;EAW56137;NP_000806;O14764 Hs.113882 1732924 D1S1328 EIG10;EJM7;GEFSP5;MGC45284 GABA(A) receptor subunit delta;GABA(A) receptor, delta;GABA-A receptor, delta polypeptide;OTTHUMP00000038578;gamma-aminobutyric acid receptor subunit delta APPROVED protein-coding ENSG00000187730 4084 08842 137163;613060 REVIEWED 736139 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] 15 15 q12 24339786 24570020 - 26788693 27018935 - 704404;1580863;1601269;1601268;6480464;7240710 16835263;12189488 1664410;19430570;19268543;19086053;19078961;19058789;18978678;18837046;18821008;18650446;18514161;18452349;18358985;18281286;18085588;17957331;17880575;17471287;17339270;17326191;17272867;17230033;17225872;17215107;17124266;16674551;16080114;15767729;15615769;15489334;15337300;15318112;15296817;15066703;14724252;14702039;14503638;12640458;12595241;12491987;12477932;12367595;12225856;12048673;11920158;11810291;11711165;11140838;11085308;10023064;9328477;9126483;8389098;8382702;16023997;8175718;8136833;1714232;1346439;18467327;20550555;20634891;20834067;15198677;19598235;19717274;19734545;19736351;19874574;19937600;20379614;20468064;19935738;20843900;22243422;11528422;22080424;22303015;22414661;23438326;10514831;10515160;12973656;20308251;22812221;22505724;21908847;15028279;16344560;16712791 2562 B2RCW8;F5H7N0;G3V373;G3V3U3;G3V4W7;G3V5B4;H0YJU6;P28472 ABBA01048704;ABBA01048705;ABBA01048706;ABBA01048707;ABBA01048708;ABBA01048709;ABBA01048710;AC009878;AC011196;AC104569;AK056018;AK095011;AK295167;AK302822;AK315311;AL120032;AMYH01006488;AMYH01006489;AMYH01006490;AW294342;BC010641;BC038837;BE220174;BE783170;CB162957;CD013894;CD652458;CH471151;CR747353;DA138788;DB479831;DN994054;L04311;M82919;NG_012836;NM_000814;NM_001191320;NM_001191321;NM_001278631;NM_021912;NR_103801 AAA52507;AAA52508;AAA52511;AAH10641;ABM82012;ABW03356;BAG37715;BAH11997;BAH13811;EAW57653;EAW57654;EAW57655;NP_000805;NP_001178249;NP_001178250;NP_001265560;NP_068712;P28472 Hs.302352;Hs.727263 1334569;1679994;1686875;1695984;1703910;1710562;1732405;1742283;1743217;1743219;1743221;1743223;1756115;1775801;1795884;2154010 D15S511;D15S97;GABRB3_1630;GDB:194754;GDB:304598;GDB:304601;GDB:304604;GDB:304607;RH11160;RH78433;SHGC-142906;SHGC-82382;SHGC-82733;SHGC-83616;STS-R43452;WI-15959 ECA5;MGC9051 GABA(A) receptor beta-3 subunit;GABA(A) receptor subunit beta-3;GABA(A) receptor, beta 3;GABA-A receptor beta-3 subunit;GABA-alpha receptor beta-2 subunit;GABAA receptor beta-3 subunit;OTTHUMP00000159535;OTTHUMP00000159558;OTTHUMP00000246783;OTTHUMP00000246855;OTTHUMP00000246857;gamma-aminobutyric acid receptor subunit beta-3 APPROVED protein-coding ENSG00000166206 4083 08844 137192;612269 REVIEWED 1352541 GABRR3 gamma-aminobutyric acid (GABA) A receptor, rho 3 The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012] 3 3 3 q11.2 96095069 96143378 - 99188217 99236521 - 97705527 97754148 - 1580863;6480464 19086053;19078961;16641997;15617751;12431995;10542332;20820800 200959 A8MPY1 AADB02004500;ABBA01026939;AC026100;AMYH01013351;CR749263;NM_001105580;NR_047685;Y18994 A8MPY1;CAB60835;NP_001099050 Hs.534578 1337429;1654315;1789076 D3S1752;D3S3283;G65673 DKFZp781O1955 GABA(A) receptor subunit rho-3;GABA(A) receptor, rho 3;GABA(C) receptor;OTTHUMP00000214141;gamma-aminobutyric acid (GABA) receptor, rho 3;gamma-aminobutyric acid receptor subunit rho-3 APPROVED protein-coding ENSG00000183185 17969 INFERRED 1344590 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 q34 161427295 161515106 + 161494648 161582545 + 1358631;1580863;6480237;6480464;7240710 12117362;15929193 21474657;2538761;9892355;19523047;19522081;19428381;19292758;19236456;19219857;19086053;19078961;19065515;18825662;18755274;18566737;18292428;18197653;18175077;18085588;17927801;17880575;17641256;17440936;17162195;17124266;16806831;16627470;16412095;16344560;16172613;15955415;15772696;15542698;15489334;15470132;15342642;15257153;15033447;15016806;14981251;14966130;14736867;14702039;14625018;14593118;14569258;12759178;12694927;12672902;12477932;12384214;12367595;12367594;12232773;12225856;11948245;11748509;11328646;11326275;11326274;11140951;10659839;10449790;12574411;8875185;7851879;1321425;1321150;11779480;20583128;15229235;19019179;19553237;19650112;19682861;19705103;19834535;19842164;19854014;19874574;20098824;20356767;20468064;20485450;20132297;15028279;21219304;21729720;22011963;21751815;21714819;22539854;22239287;22572707;22750526;23069679;23140995;23308109;23257655;21908847 2566 A8MWU7;E5RGG2;E5RGJ0;E5RIG3;P18507 ABBA01044199;ABBA01044200;AC008611;AC091926;AC091984;AF165124;AK123394;AK299640;AK315200;AMYH01015765;BC036030;BC052926;BC059389;BC069348;BC074795;CD013896;CD013897;CH471062;DA226729;NG_009290;NM_000816;NM_198903;NM_198904;X15376 AAD50273;AAH59389;AAH69348;AAH74795;BAG61563;CAA33437;EAW61532;EAW61533;EAW61534;EAW61535;NP_000807;NP_944493;NP_944494;P18507 Hs.7195 1743583;1780724;1788672;1797560;1854477;2111898;2158614;2181525;2185083;5017699;5096724 D5S2513;D5S2576;G05059;GABRG2;GABRG2_2155;GDB:351021;RH106540;RH65298;STS-X15376;WI-19173;bac51814T CAE2;ECA2;GEFSP3 GABA(A) receptor subunit gamma-2;GABA(A) receptor, gamma 2;OTTHUMP00000160873;OTTHUMP00000160874;OTTHUMP00000224398;OTTHUMP00000224400;gamma-aminobutyric acid receptor subunit gamma-2 APPROVED protein-coding ENSG00000113327 4087 00663 137164;607681;611277 REVIEWED 733632 GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 15 15 q12 25399391 25451729 + 27216429 27778373 + 1580863;6480464 12477932;19598235;19086053;19078961;19058789;18516948;18334916;17957331;16674551;16080114;14981720;14745296;11948245;11329013;10891602;8719414;8175718;7601451;20583128;10414349;19019179;19727025;19736351;19874574;20379614;20398908;20436377;20468064;23535033;22969067 2567 H0YJ81;H0YJP1;H7BZQ0;Q99928 ABBA01044303;ABBA01044304;ABBA01044305;ABBA01044306;ABBA01044307;ABBA01044308;ABBA01044309;ABBA01044310;AC104002;AC127511;AC135326;AC136896;AC144833;AC145436;AF269144;AMYH01006492;AMYH01006493;AMYH01006494;BC029850;BC045709;BG201662;BX282033;CH471151;DN990720;EU606049;NG_032887;NM_001270873;NM_033223;S82769 AAB39369;AAF99698;EAW57658;EAW57659;NP_001257802;NP_150092;Q99928 Hs.569475 1298332;1335426;1646586;1677408;1745045;1745049;1750853;1751573;1759495;2168712 D15S822;D15S975;GDB:593252;GDB:593257;RH71404;SHGC-104634;SHGC-105519;SHGC-150906;SHGC-35889;WI-10300 GABA(A) receptor subunit gamma-3;GABA(G) receptor, gamma 3;OTTHUMP00000041751;gamma-aminobutyric acid receptor subunit gamma-3 APPROVED protein-coding ENSG00000182256 4088 02579 600233 REVIEWED 1346666 GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 6 6 q15 89944691 89983779 - 89887223 89941007 - 1580863;6480464 12175859;22747884;1849271;10779366;19536785;19086053;19078961;18675255;18599601;18227272;18079559;16198491;15548535;15163459;14660627;14574404;12431995;12226075;11862606;11102469;10625616;10542332;9892354;9839716;9153229;7472519;1315307;20583128;12477932;19717338;20056107;20468064;20889312;20820800;22169095;16999686;16344560 2569 F8WB88;P24046 ABBA01040527;AK296124;AK298948;AK313609;AL353135;AL353659;AMYH01016499;AMYH01016500;AW135923;BC130344;CH471051;DA753437;DC403980;M62400;NM_001256703;NM_001256704;NM_001267582;NM_002042 AAA52509;AAI30345;BAG58870;BAG61047;EAW48558;NP_001243632;NP_001243633;NP_001254511;NP_002033;P24046 Hs.99927 1672341;1691084;1718389;1753301;2122237 D6S2057;RH122969;RH80482;SHGC-81716;WI-18966 MGC163216 GABA(A) receptor subunit rho-1;GABA(A) receptor, rho 1;GABA(C) receptor;OTTHUMP00000016849;OTTHUMP00000209035;bA135P14.1 (gamma-aminobutyric acid (GABA) receptor, rho 1);gamma-aminobutyric acid (GABA) A receptor, rho-1;gamma-aminobutyric acid (GABA) receptor, rho 1;gamma-aminobutyric acid receptor subunit rho-1 APPROVED protein-coding ENSG00000146276 4090 15921 137161 REVIEWED 1350925 GADD45AP1 growth arrest and DNA-damage-inducible, alpha pseudogene 1 12 q 88214598 88215346 + 1990262;1990262 1648 ABBA01053429;AC079598;AMYH01004646;NG_031939 DDIT1L;GADD45AL APPROVED pseudo 2725 INFERRED 731793 GABRQ gamma-aminobutyric acid (GABA) A receptor, theta The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq, Nov 2009] X X X q28 152051839 152067018 + 151557293 151572481 + 151806637 151821825 + 68250;1580863;6480464 10804200 22690081;10449790;19087248;19086053;19078961;15489334;12477932;10414349;19874574;20468064;21422964;8828036 55879 Q9UN88 ABBA01037332;AC244102;AF002997;AF144648;AF189259;AMYH01023234;BC109210;BC109211;CH471169;NG_015965;NM_018558;U47334 AAC50559;AAD51172;AAF70380;AAI09211;AAI09212;EAW99424;NP_061028;Q9UN88 Hs.283081 1667058;1788680;1797562 B342YE5;GABRQ_322;RH106546 MGC129629;MGC129630;THETA GABA(A) receptor subunit theta;GABA(A) receptor, theta;GABA-A receptor theta subunit;OTTHUMP00000024230;gamma-aminobutyric acid (GABA) receptor, theta;gamma-aminobutyric acid receptor subunit theta APPROVED protein-coding 14454 02284 300349 REVIEWED 737032 GABRP gamma-aminobutyric acid (GABA) A receptor, pi The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. [provided by RefSeq, Jul 2008] 5 5 q35.1 170143343 170173629 + 170210723 170241051 + 728637;1580863;6480464 9182563 19086053;19078961;16187283;16172613;15489334;14702039;12477932;10462548;10414965;10209232;12775419;20583128;19834535;20103740;20468064;23470693 2568 E5RG98;E5RGF7;E5RHF6;E5RHU0;E5RI57;E5RK74;E7EWG0;O00591 ABBA01044090;ABBA01044091;AC008514;AC008815;AF009693;AF009694;AF009695;AF009696;AF009697;AF009698;AF009699;AF009700;AF009701;AF009702;AK055205;AK292901;AK296805;AK300303;AL708685;AMYH01015802;BC074810;BC074865;BC109105;BC109106;CH471062;CS501268;NM_014211;U95367 AAC24194;AAC51357;AAH74810;AAH74865;AAI09106;AAI09107;BAF85590;BAG51486;BAG59378;BAG62056;CAM83950;EAW61466;EAW61467;EAW61468;NP_055026;O00591 Hs.26225 1657285;1674244;1762741;1775523;1780528;1788668;1795888;2187221 GABRP_98;RH104596;RH48767;RH65368;SGC34169;SHGC-146528;STS-R55016;bac51039T MGC126386;MGC126387 GABA(A) receptor subunit pi;GABA(A) receptor, pi;OTTHUMP00000161000;OTTHUMP00000223234;OTTHUMP00000223235;gamma-aminobutyric acid receptor subunit pi APPROVED protein-coding ENSG00000094755 4089 04105 602729 REVIEWED 733945 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008] 10 10 p11.23 26545600 26633493 + 26505236 26593491 + 1302511;1580863;1300048;2313292;2313294;2313295;2313296;2313289;2313298;6480464;6480427;6907045 8954991;19188044;19085183;18588707;18005036;19741189;18985010;21250934 21494613;10671565;1549570;19156168;19125103;19111404;19086053;19058789;18487477;18378887;18371956;18367670;18184926;18047830;17992632;17657474;17479437;17459095;17412563;17384644;17167787;17090641;17034009;16741266;16731858;16718280;16122350;15836621;15834701;15671113;15642443;15365614;15277377;15170642;15163889;15147202;15114630;15091314;14691540;14576464;14557453;12606513;12503190;12477932;12376704;12356867;12296864;12197888;12196483;12097368;12021103;12021098;10814590;8999827;8243826;8088791;7836456;7680313;2039509;1924293;15603740;19913121;20602615;20628086;20634891;20659789;21073664;12750892;16385451;19229853;19686769;19783309;19874574;19876004;20010500;20016201;20083660;20201926;20379614;20468064;21385406;22865904;22366823;21792090;21517929;21491431;21937910;22552777;22103299;22104260;22624794 2572 Q05329;Q5VZ29;Q5VZ30;Q5VZ31 ABBA01034422;AJ251501;AK127375;AL162503;AMYH01002200;AY340073;BC029517;BC039038;BC047899;BC126327;BC126329;BI438818;BP392604;CH471072;M74826;M81882;NM_000818;NM_001134366;X69936 AAA58491;AAA62367;AAH29517;AAI26328;AAI26330;AAP88040;ADR83065;BAC86947;CAB62572;EAW86101;EAW86102;EAW86103;EAW86104;NP_000809;NP_001127838;Q05329 Hs.231829 1340909;1654782;1758807;1788060;1788062;1788064;7185322;7187018 D10S197;G67241;G67242;G67243;SHGC-240;SHGC-31510 GAD65;MGC161605;MGC161607 65 kDa glutamic acid decarboxylase;GAD-65;Glutamate decarboxylase-2 (pancreas);OTTHUMP00000019335;OTTHUMP00000019336;glutamate decarboxylase 2;glutamate decarboxylase 65 kDa isoform 1643373;1643375;1643390;2289527 BW341_H;BW342_H;BW343_H;BW436_H APPROVED protein-coding ENSG00000136750 4093 11817 138275 REVIEWED 730853 GAD1 glutamate decarboxylase 1 (brain, 67kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008] 2 2 q31 171381446 171425907 + 171673200 171717661 + 1302586;1580863;1300048;6480464;6480428;6480430;6480264;6480427;6907045;7240710 9326630;18534564;17303389;22328461;21250934 21223646;21494613;10671565;1549570;8954991;19428124;19367581;19328558;19156168;19139806;19111404;19086053;18837046;18783896;18470533;18335162;18047830;18294085;17918742;17767149;17652798;17553960;17471287;17412563;17384644;17325256;17235515;17113713;16718280;15836621;15806582;15571623;15542242;15505639;15489334;15147202;15114630;15103710;15091314;15014985;14702039;14681921;12774663;12515288;12477932;12376704;11140838;9973289;8507203;8507202;8088791;2039509;1697032;1683463;1339255;7836456;16189514;15681389;22309971;16722236;20832408;20598486;20602615;20634891;20659789;17474147;17726539;19321177;19548263;19783309;19874574;20201926;20357758;12750892;20859245;21041608;20960264;20236554;21302352;21034448;22662185;21632647;21937910;23022470;21509853;22099865;22564729;22384267 2571 C9J6C9;C9JLZ7;C9JN45;C9JT43;F8WD43;Q49AK1;Q8IVA8;Q99259 A28074;ABBA01014918;ABBA01014919;ABBA01014920;AC007405;AF178853;AK127781;AK292582;AK307460;AMYH01011258;AMYH01011259;AY337516;BC002815;BC026349;BC036552;BC037780;CH471058;L16888;M55574;M70434;M81883;M86522;NG_021477;NM_000817;NM_013445;S61897;S61898;Z22750 AAA35900;AAA52512;AAA62368;AAA72938;AAB26937;AAB26938;AAB59427;AAF18390;AAH02815;AAH26349;AAH36552;AAH37780;AAP88035;AAY24237;ABM83302;ABM86516;BAF85271;CAA01913;CAA80435;EAX11228;EAX11229;EAX11230;NP_000808;NP_038473;Q99259 Hs.420036 1335926;1336968;1341435;1718607;1748243;1748245;1748247;1748249;1748251;1748253;1748255;1748257;1748259;1748261;1748263;1748265;1854837;2113904;2152789 D2S124;D2S148;D2S2194;G66908;G66909;G66910;G66911;G66912;G66913;G66914;G66915;G66916;G66917;G66918;G66919;GAD1;RH122989;SHGC-30155;SHGC-31511 CPSQ1;FLJ45882;GAD;GAD67;SCP 67 kDa glutamic acid decarboxylase;GAD-67;OTTHUMP00000041054;OTTHUMP00000041055;OTTHUMP00000204990;OTTHUMP00000204993;OTTHUMP00000204994;OTTHUMP00000204995;OTTHUMP00000228572;glutamate decarboxylase 1;glutamate decarboxylase 67 kDa isoform APPROVED protein-coding ENSG00000128683 4092 12011 603513;605363 REVIEWED 733076 GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA receptor complex. [provided by RefSeq, Jul 2008] 6 6 q15 90023958 90081686 - 89966840 90025018 - 1580863;6480256;6480464 16080114 21420396;1315307;19086053;19078961;17913586;15489334;14574404;12660236;12477932;12431995;12175859;11102469;10542332;9839716;9153229;20583128;19167917;19536785;20222955;20468064;20889312;20820800;16344560 2570 P28476 ABBA01040528;ABBA01040529;AK293751;AL121833;AMYH01016500;AMYH01016501;BC130352;BC130354;BX490975;CH471051;DA863180;M86868;NM_002043 AAA52510;AAI30353;AAI30355;BAG57173;EAW48557;NP_002034;P28476 Hs.719891 1719025;1777901;1785804;2159941;2174095;2219090 G17035;GABRR2_2660;RH123219;SHGC-12769;SHGC4-1794;WI-18967 GABA(A) receptor subunit rho-2;GABA(A) receptor, rho 2;GABA(C) receptor;GABA-C receptor, rho-2 subunit;OTTHUMP00000016851;gamma-aminobutyric acid (GABA) receptor, rho 2;gamma-aminobutyric acid receptor subunit rho-2 APPROVED protein-coding ENSG00000111886 4091 15922 137162 REVIEWED 1602944 GAGE10 G antigen 10 X X p11.23 49047069 49063255 + 49160125 49176311 + 18179644;11329013 643832 A6NGK3 ABBA01046152;ABBA01046153;AC233302;AF235097;AMYH01022294;NM_001098413 A6NGK3;AAI60111;NP_001091883 Hs.562044 G antigen 10;GAGE-10;OTTHUMP00000025834 protein-coding ENSG00000215274 30968 300737 PROVISIONAL 1351528 GADL1 glutamate decarboxylase-like 1 3 3 3 p24.1-p23 30704622 30873129 - 30742696 30867341 - 30767692 30936153 - 6480464 12477932;23568457 339896 Q6ZQY3 ABBA01024959;ABBA01024960;ABBA01024961;AC095029;AC096921;AC138391;AK128643;AL832766;AMYH01013054;BC093701;BC111986;CH471055;NM_207359 AAH93701;AAI11987;BAC87546;EAW64414;NP_997242;Q6ZQY3 Hs.657052 MGC138191 OTTHUMP00000161199;OTTHUMP00000222306;glutamate decarboxylase-like protein 1 protein-coding ENSG00000144644 27949 13557 VALIDATED 1351546 GAGE1 G antigen 1 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] X X p11.23 49250567 49257905 + 49363616 49373139 + 1580863 7544395;18179644;17208940;12477932;10397259;9651357;20423514;12890744;14607688;15206491;15362791;16929165;17709385;17715884;20053773;21832049 2543 Q05DQ1;Q13065;Q13068 ABBA01063263;AC142496;AC142497;AC231643;AMYH01022318;AMYH01022319;AMYH01022320;AMYH01022321;BC005363;BC036094;BC069470;DB448801;DC401704;NM_001040663;NM_001468;NR_102272;U19142 AAA82744;AAH05363;AAH36094;AAH69470;ABM81885;ABM85053;NP_001035753;NP_001459;Q13065 Hs.278606 5024413;5109663 D7S2067E;L17877 CT4.1;GAGE-1;MGC33825 G antigen 1;MZ2-F antigen;OTTHUMP00000025848;cancer/testis antigen 4.1;cancer/testis antigen family 4, member 1 APPROVED protein-coding ENSG00000205777 4098 05028 300594 REVIEWED 1603137 GAGE12D G antigen 12D X X p11.23 49193269 49200654 + 49306325 49313710 + 18179644 100132399 A1L429 AC142497;NM_001127199 A1L429;NP_001120671 Hs.645554 GAGE-12B;GAGE12B;GAGE12C;GAGE12E G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E;OTTHUMP00000025843 protein-coding ENSG00000227488 31904 300728 PROVISIONAL 1606349 GAGE12C G antigen 12C X X p11.23 49183724 49191088 + 49296780 49304144 + 18179644 729422 A1L429 AC142497;NM_001098408 A1L429;NP_001091878 Hs.632812 GAGE-12B;GAGE12B;GAGE12D;GAGE12E G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E;OTTHUMP00000025842 protein-coding ENSG00000237671 28402 300727 PROVISIONAL 1606348 GAGE12E G antigen 12E X X p11.23 49202825 49210206 + 49315892 49323252 + 18179644;11329013 729431 A1L429 AC142497;NM_001098418 A1L429;ADR82812;NP_001091888 Hs.632812 GAGE-12B;GAGE12B;GAGE12C;GAGE12D G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E;OTTHUMP00000025844 protein-coding ENSG00000216649 31905 300729 PROVISIONAL 733803 GADD45A growth arrest and DNA-damage-inducible, alpha This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010] 1 1 p31.2 67923471 67926607 + 68150860 68154021 + 1580863;5509080;6480464;6484113;6907045 19124556 15328371;7973727;10828065;10747892;7798274;19452502;19298651;19190346;19128509;19064572;19052873;18950845;18611122;18480060;18472964;18413758;18369439;18350249;18296737;18243530;17703175;17616671;17599061;17474084;17436581;17230496;17178890;17140287;16997058;16951143;16827157;16772293;16421274;16381901;16353139;16189514;16157202;15899854;15736438;15735726;15644315;15642443;15623356;15489336;15489334;15353598;15203190;14647444;14635187;14586402;14517299;14506229;12716909;12483522;12477932;12171872;12168790;11893252;11777930;11498536;11076863;10973963;10872826;10022855;9827804;8226988;7478594;7478510;1990262;15650754;12124778;10362260;7784094;10912791;12748288;9178907;9705499;15616591;20460379;11256614;16169070;18760377;19048389;19459735;19536092;19550118;19596022;19728081;19789190;20131288;20444249;21048031;20652500;19593445;22718299;23071284;21368893;21211282;21739277;21813510;21900206;20639865;21139048;21890473;21906983;21931671;22135303;21120602;21986581;22313682;22521726;22430142;22318606;21963094;21988832;22825327;23000965;23485469;20932473;22970179;23227140;23563151;23114628;20012529 1647 A5JUZ3;P24522 ABBA01074515;AK314991;AL136120;AMYH01000692;AY135686;BC011757;BU629410;CH471059;DQ008445;EF581092;EF614238;HI179176;L24498;M60974;NM_001199741;NM_001199742;NM_001924 AAA35863;AAA72045;AAH11757;AAM88884;AAY25021;ABM84155;ABM87557;ABQ52427;BAG37487;CAL38317;CBX53896;EAX06487;EAX06488;NP_001186670;NP_001186671;NP_001915;P24522 Hs.80409 1777759;1795890;1855035 D1S3318;GADD45A_1660;SHGC-74965 DDIT1;GADD45 DDIT-1;DNA damage-inducible transcript 1 protein;DNA damage-inducible transcript-1;DNA-damage-inducible transcript 1;OTTHUMP00000010979;OTTHUMP00000010981;growth arrest and DNA damage-inducible protein GADD45 alpha;growth arrest and DNA-damage-inducible 45 alpha APPROVED protein-coding ENSG00000116717 4095 00528 126335 REVIEWED 1625320 GAGE12F G antigen 12F X X p11.23 49212424 49219752 + 49326600 49332717 + 18179644 100008586 O76087;P0CL80;P0CL81;P0CL82 AC142497;AF055474;AF058988;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;NM_001098405 AAC25989;AAC33677;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;NP_001091875;P0CL80 Hs.460641;Hs.632808;Hs.695912 GAGE12G;GAGE12I G antigen 12F;G antigen 12F/G/I;GAGE-12F;GAGE-12G;GAGE-12I;OTTHUMP00000025845 protein-coding 31906 300730 PROVISIONAL 1606346 GAGE12H G antigen 12H X X p11.23 49231496 49238851 + 49344552 49351907 + 18179644;15772651 729442 A6NDE8 AC142497;NM_001098410 A6NDE8;NP_001091880 Hs.632813 RP11-959H17.7 G antigen 12H;GAGE-12H;OTTHUMP00000025847 protein-coding ENSG00000224902 31908 300732 PROVISIONAL 1606614 GAGE12B G antigen 12B X X X p11.23 53437862 53440249 + 49193280 49200644 + 49315927 49323188 + 18179644;12477932;11329013 729428 A1L429 AC142497;BC130374;BC143615;BC143619;NM_001127345 A1L429;AAI30375;AAI43616;AAI43620;NP_001120817 Hs.632812 GAGE-12B;GAGE12C;GAGE12D;GAGE12E;MGC163246 G antigen 12B/C/D/E;G antigen 12C/D/E;GAGE-12C;GAGE-12D;GAGE-12E protein-coding ENSG00000236737 26779 PROVISIONAL 1319220 GADD45B growth arrest and DNA-damage-inducible, beta This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008] 19 19 p13.3 2427135 2429257 + 2476123 2478257 + 1580863;6480464;6484113;6907045 9827804;19064572;18576389;18515079;18343408;17591973;17485467;17437852;16144844;15642734;15546867;15509538;15489334;15057824;14630914;12855571;12759252;12716909;12477932;12162804;12124778;11498536;11078829;10973963;10872826;10828065;10773677;10101024;9151207;8700517;1899477;14743220;15616591;20530689;20942912;16256071;15342556;19877043;8889548;19834918;20558744;21062976;21127053;21810943;21139048;22048458;22096849;23110778;22797925 4616 K7EM97;K7EPQ8;O75293;Q6IX74 ABBA01002739;AC005624;AF078077;AF087853;AF090950;AF533019;AK129595;AK293087;AL050044;AMYH01009283;AY615270;AY615271;BC024654;BC113466;BC117469;BM670459;BP225713;CH471139;NM_015675 AAC34572;AAC36361;AAC83328;AAG48366;AAI13467;AAI17470;AAM92794;AAT38867;AAT38868;ADR83481;BAF85776;EAW69376;EAW69377;NP_056490;O75293 Hs.110571 2166119;2166670;5493431 D19S1085;RH68217;UniSTS:486198 DKFZp566B133;GADD45BETA;MYD118 growth arrest and DNA damage-inducible protein GADD45 beta;myeloid differentiation primary response protein MyD118;negative growth regulatory protein MyD118 APPROVED protein-coding ENSG00000099860 4096 05382 604948 REVIEWED 1323436 GADD45G growth arrest and DNA-damage-inducible, gamma This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008] 9 9 q22.1-q22.2 91409748 91411290 + 92219927 92221470 + 1580863;6480464;6484113;6907045 21832049;15383276;9827804;19064572;18997345;18464913;17178890;16344560;16189514;16166418;15489334;15353598;15062559;14672412;12716909;12477932;12124778;11889197;11498536;11078829;11022036;10973963;10872826;10773677;10597261;10496071;10490824;10455148;7681987;19048389;19293565;20111973;20098747;20739400;21850407;21931671;21900206;22058036;22318606;22752116 10912 O95257;Q5VZ87;Q5VZ88 ABBA01015388;AF078078;AF079806;AF087883;AF265659;AF494037;AK313689;AL161910;AMYH01021497;AY845250;BC000465;BC019325;BT007234;CH471089;CR457038;D83023;DA420966;NM_006705 AAC83329;AAD28544;AAF73468;AAH00465;AAH19325;AAK00414;AAM00007;AAP35898;AAW29982;BAA84543;BAG36438;CAG33319;EAW62774;NP_006696;O95257 Hs.9701 CR6;DDIT2;GADD45gamma;GRP17 DDIT-2;DNA damage-inducible transcript 2 protein;GADD45-gamma;OTTHUMP00000021623;OTTHUMP00000021624;cytokine-responsive protein CR6;gadd-related protein, 17 kD;growth arrest and DNA damage-inducible protein GADD45 gamma APPROVED protein-coding ENSG00000130222 4097 05383 604949 REVIEWED 1319487 GADD45GIP1 growth arrest and DNA-damage-inducible, gamma interacting protein 1 This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012] 19 19 19 p13.2 12954701 12957779 - 12925972 12929050 - 13064970 13068068 - 1580863;6480464 15489334;17207965;12716909;15231747;17885209;17804717;17069992;15459248;12482659;12477932;11710515;10441517;20098747;20427290;21832049;22939629;21911160;20186120;20972266;21139048;21890473;19305429;22446626;21145461 90480 Q7LAX7;Q8TAE8 ABBA01029763;AC092069;AF412816;AF475095;AF479749;AI309741;AJ295986;AJ429498;AMYH01009497;BC004944;BC013027;BC013039;BC069200;BI459923;CH471106;NM_052850 AAH04944;AAH13027;AAH13039;AAH69200;AAL55291;AAL85877;AAM10639;ADQ32003;CAC82499;CAD22344;EAW84335;NP_443082;Q8TAE8 Hs.515164 1775164;1776613 RH41814;WI-11591 CKBBP2;CRIF1;MGC4667;MGC4758;PLINP;PLINP-1;PRG6;Plinp1 CKII beta binding protein 2;CKII beta-associating protein;CR6 interacting factor 1;CR6-interacting factor 1;growth arrest and DNA damage-inducible proteins-interacting protein 1;growth arrest- and DNA damage-inducible GADD45G-interacting protein;p53-responsive gene 6 protein;papillomavirus L2 interacting nuclear protein 1;papillomavirus L2-interacting nuclear protein 1 APPROVED protein-coding ENSG00000179271 29996 05519 605162 REVIEWED 2292466 GAGE2B G antigen 2B X X p11.23 49122652 49129941 + 49235708 49242997 + 18669648;18179644;15772651;15489334;7544395 645037 Q13066 BX649339;NM_001098411 CAI95425;NP_001091881;Q13066 Hs.714681 GAGE-2B;GAGE-2C;GAGE2A;GAGE2C CT4.2;G antigen 2A/2B;G antigen 2B;G antigen 2B/2C;G antigen 2C;GAGE-2;OTTHUMP00000070308;cancer/testis antigen 4.2 protein-coding ENSG00000231850 31957 300726 VALIDATED 1606347 GAGE12G G antigen 12G X X p11.23 49221936 49229314 + 49335003 49342360 + 12477932 645073 O76087;P0CL80;P0CL81;P0CL82 AC142497;AF055474;AF058988;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;NM_001098409 AAC25989;AAC33677;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;NP_001091879;P0CL81 Hs.460641;Hs.632808;Hs.744360 AL4;CT4.7;GAGE-12G;GAGE12F;GAGE12I;GAGE7;MGC132611;RP11-959H17.6 AL4;CT4.7;G antigen 12G;GAGE-12F;GAGE-12G;GAGE-12I;GAGE-7;GAGE-7B;GAGE-8;OTTHUMP00000025846;cancer/testis antigen 4.7;g antigen 12F/G/I protein-coding ENSG00000215269 31907 300731 PROVISIONAL 1606350 GAGE12J G antigen 12J X X p11.23 49065460 49072810 + 49178516 49185866 + 18179644;15772651;12477932 729396 A6NER3 AC233302;AF235097;AK310423;NM_001098406 A6NER3;NP_001091876 Hs.695912;Hs.743946 GAGE11 G antigen 11;G antigen 12J;GAGE-12J;OTTHUMP00000025835 protein-coding ENSG00000224659 17778 300733 PROVISIONAL 1346373 GAGE3 G antigen 3 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] p11.4-p11.2 6480464 18179644;12522270;10397259;9651357;7544395 2575 Q13067 U19144 AAA82746;Q13067 CT4.3 G antigen 3;GAGE-3;cancer/testis antigen 4.3;cancer/testis antigen family 4, member 3 APPROVED protein-coding 4100 300596 1604406 GAGE13 G antigen 13 X X p11.23 49075038 49082310 + 49188094 49195366 + 18179644;15772651;12477932;11329013 645051 Q4V321 AC233302;AF235097;BX649339;NM_001098412 CAI95426;NP_001091882;Q4V321 Hs.743946 GAGE12A;MGC163246 G antigen 12A;G antigen 13;GAGE-12A;GAGE-13;OTTHUMP00000025836 protein-coding ENSG00000237597 29081 300734 VALIDATED 1344596 GAGE12I G antigen 12I This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11.23 49103621 49110887 + 49216677 49223943 + 6480464 18179644;15772651;15489334;12477932;10397259;9651357;7544395;23029259 26748 O76087;P0CL80;P0CL81;P0CL82 AF055474;AF055475;AF058988;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;BX649339;NM_001477 AAC25989;AAC33677;AAC33678;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;CAI95423;NP_001468;O76087;P0CL82 Hs.460641;Hs.632808;Hs.744360 AL4;CT4.7;GAGE-7B;GAGE12F;GAGE12G;GAGE7;GAGE7B GAGE-12F;GAGE-12G;GAGE-12I;GAGE-7;GAGE-7B;GAGE-8;OTTHUMP00000070307;cancer/testis antigen 4.7;g antigen 12F/G/I;g antigen 7 APPROVED protein-coding ENSG00000241465 4105 06573 300637 REVIEWED 1352149 GAGE6 G antigen 6 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11.4-p11.2 49212424 49219752 + 49212424 49219752 + 6480464 18179644;10397259;9651357;7544395 2578 Q13070 NM_001476;U19147 AAA82749;AAI48436;NP_001467;Q13070 Hs.632808 CT4.6 G antigen 6;GAGE-6;cancer/testis antigen 4.6;cancer/testis antigen family 4, member 6 APPROVED protein-coding 4103 05033 300599 REVIEWED 2293117 GAGE2C G antigen 2C This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11.23 49113115 49120435 + 49226171 49233491 + 6480464 18179644;15772651;15489334;12477932;10397259;10037183;9651357;7544395;19934278 2574 Q13066 AMYH01022295;AMYH01022296;AMYH01022297;AMYH01022298;AMYH01022299;AMYH01022300;AMYH01022301;AMYH01022302;AMYH01022303;AMYH01022304;AMYH01022305;AMYH01022306;AMYH01022307;BC113926;BX649339;NM_001472;U19143 AAA82745;AAI13927;CAI95424;NP_001463;Q13066 Hs.460641 CT4.2;GAGE-2;GAGE-2B;GAGE-2C;GAGE2;GAGE2A;GAGE2B;MGC120097;MGC96883;MGC96930;MGC96942 G antigen 2;G antigen 2A/2B;G antigen 2B;G antigen 2B/2C;GAGE-2;OTTHUMP00000070309;cancer/testis antigen 4.2 APPROVED protein-coding ENSG00000236249 31958 05029 300595 REVIEWED 1350714 GAGE2A G antigen 2A X X p11.23 49241032 49248384 + 49354118 49361430 + 6480464 15772651;15489334;12477932;11329013;7544395;19934278 729447 Q6NT46 AC142497;BC069309;BC069397;BC069558;BG184057;EC558573;NM_001127212 AAH69309;AAH69397;AAH69558;NP_001120684;Q13066;Q6NT46 Hs.460641;Hs.722100 CT4.2;GAGE-2;GAGE-2A;GAGE-2B;GAGE-2C;GAGE2;GAGE2B;GAGE2C;MGC96883;MGC96930;MGC96942 G antigen 2A/2B;G antigen 2C;GAGE-2;OTTHUMP00000025841;cancer/testis antigen 4.2;cancer/testis antigen family 4, member 2 protein-coding ENSG00000189064 4099 300720 VALIDATED 1343751 GAGEC2 G antigen, family C, 2 9724777 9505 4109 2293111 GAGE2D G antigen 2D X X p11.23 49094060 49101364 + 49207116 49214420 + 18179644;12477932 729408 Q9UEU5 BC018052;BX649339;NM_001098407 AAH18052;CAI95422;NP_001091877;Q9UEU5 Hs.743690 CT4.8;GAGE-2D;GAGE-8;GAGE8;MGC26395 G antigen 2D;G antigen 8;OTTHUMP00000070310;cancer/testis antigen 4.8 protein-coding ENSG00000240257 31959 300735 PROVISIONAL 1344954 GAGE4 G antigen 4 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11.4-p11.2 49103593 49110884 + 49103593 49110884 + 6480464 18179644;15489334;12477932;10397259;9651357;7544395 2576 Q13068;Q13069 BC171769;CR542236;NM_001474;U19145 AAA82747;AAI71769;CAG47032;NP_001465;Q13068 Hs.460641;Hs.722100;Hs.743690 CT4.4 G antigen 4;GAGE-4;cancer/testis antigen 4.4;cancer/testis antigen family 4, member 4 APPROVED protein-coding 4101 05031 300597 REVIEWED 2293811 GAGE2E G antigen 2E X X p11.23 49084551 49091867 + 49197607 49204923 + 18179644;16189514;15772651;15489334;12477932;10397259;9651357 26749 Q4V326 AC142497;AC233302;BC018052;BX649339;NM_001127200 AAH18052;CAI95421;NP_001120672;Q4V326 Hs.695911;Hs.743690 GAGE-2E;GAGE8 G antigen 2E;OTTHUMP00000070311 protein-coding ENSG00000205775 31960 06574 300736 PROVISIONAL 1354409 GAGE5 G antigen 5 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X p11.4-p11.2 49103601 49110887 + 49103601 49110887 + 6480464 18179644;16189514;15489334;12477932;10397259;9651357;7544395;21044950 2577 Q13069 BC024914;NM_001475;U19146 AAA82748;AAH24914;ABM82086;ABM85267;NP_001466;Q13069 Hs.460641 CT4.5 G antigen 5;GAGE-5;cancer/testis antigen 4.5;cancer/testis antigen family 4, member 5 APPROVED protein-coding 4102 05032 300598 REVIEWED 1347743 GAGE7 G antigen 7 X X p11.4-p11.2 49103622 49110884 + 49103622 49110884 + 6480464 18179644;15772651;15489334;12477932;12432251;10397259;10037183;9651357;19642896 2579 O76087;P0CL80;P0CL81;P0CL82 AF055474;AF058988;BC031628;BC069086;BC081536;BC104951;BC121182;BC121183;BC144193;NM_021123 AAC25989;AAC33677;AAH31628;AAH81536;AAI04952;AAI21183;AAI21184;AAI44194;NP_066946;O76087 Hs.460641;Hs.632808;Hs.744360 AL4;CT4.7;GAGE-12G;GAGE-7;GAGE12G;GAGE12I AL4;G antigen 12G;G antigen 7;GAGE-12I;GAGE-7B;GAGE-8;cancer/testis antigen 4.7;cancer/testis antigen family 4, member 7 protein-coding 4104 04993 300601 PROVISIONAL 1349095 GAGE8 G antigen 8 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008] X X X p11 53437864 53440313 + 49084551 49091867 + 49207160 49214420 + 1580863 16189514;10397259;18179644;15772651;15489334;12477932;9651357 100101629 Q9UEU5 AF055473;BC143620;NM_012196 AAC33676;AAI43621;AAI56223;AAI56972;NP_036328;Q9UEU5 Hs.743690 CT4.8;GAGE-2D;GAGE-8;GAGE2D;MGC190052;MGC190826;MGC26395 G antigen 2D;G antigen 8;GAGE-8;OTTHUMP00000070310;cancer/testis antigen 4.8;cancer/testis antigen family 4, member 8 APPROVED protein-coding 4106 300638 REVIEWED 737194 GAL galanin/GMAP prepropeptide Galanin is small neuropeptide that functions as a cellular messenger within the central and peripheral nervous systems, modulating diverse physiologic functions (Mechenthaler, 2008 [PubMed 18500643]).[supplied by OMIM, Jan 2009] 11 11 q13.3 68208559 68215219 + 68451983 68458643 + 1624341;704404;1624334;1624331;1624333;1624339;1625748;1580863;2313738;2313740;2313742;2313736;6480464 16458372;11220530;16487586;15275958;17383023;15930442;15735230;11489087;7505518;16060906 1722333;1370155;19086053;18988886;18973137;18518925;18500643;18322398;18272487;18196269;17573119;17083333;16787232;16341674;16314872;15944034;15927790;15893372;15648541;15283968;15111018;14997482;14706552;14700749;12814355;12769595;12654333;12647269;12477932;12471460;12106297;11712539;11595426;11279301;9928160;9808667;9685625;8617199;7524088;7508413;2485092;2469045;2465504;2460590;2447134;2446889;2444569;2427385;2423990;1719117;1711463;1710578;1702449;1701228;1698834;21707521;21042317;19749437;19913121;20602615;20628086;19874574;20237460;20468064;18577758;22226150;23278944;21352816;22078238;21199668;19322201;22859720;23261456;21716262;22162474;23341594 51083 P22466;Q9Y2S1 A28025;ABBA01023987;AF077047;AMYH01003766;AP003096;BC030241;BM846531;CH471076;L11144;M77140;NM_015973 AAA18248;AAA60178;AAD27780;AAH30241;CAA01907;EAW74715;EAW74716;EAW74717;NP_057057;P22466 Hs.278959 2180888 STS-D20836 GAL-GMAP;GALN;GLNN;GMAP;MGC40167 OTTHUMP00000237192;galanin;galanin peptides;galanin prepropeptide;galanin-message-associated peptide;galanin-related peptide 1643371 BW329_H APPROVED protein-coding ENSG00000069482 4114 00658 137035 VALIDATED 1351990 GAL3ST4 galactose-3-O-sulfotransferase 4 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94492209 94501719 - 99594801 99604309 - 99756865 99766373 - 737633;6480464 12477932 11333265;15498874;15489334;14702039;14701868;12690205;8125298;16169070 79690 B4DWL8;C9IZ77;Q96RP7 AACC02000084;ABBA01013229;ABBA01013230;ABBA01013231;AC073842;AF289575;AF316113;AK022178;AK092367;AK225890;AK301591;AL833824;AMYH01017728;AMYH01017729;BC012976;BM889458;CH236956;CH471091;NM_024637 AAH12976;AAK73365;AAL55759;BAB13977;BAG52541;BAG63080;CAD38686;EAL23847;EAW76575;EAW76577;EAW76579;NP_078913;Q96RP7 Hs.44856 5109281 D1S1425 FLJ12116;GAL3ST-4 OTTHUMP00000206869;OTTHUMP00000206900;beta-galactose-3-O-sulfotransferase 4;beta-galactose-3-O-sulfotransferase, 4;gal-beta-1,3-GalNAc 3'-sulfotransferase;galactose-3-O-sulfotransferase 4;galbeta1-3GalNAc 3'-sulfotransferase APPROVED protein-coding ENSG00000197093 24145 12195 608235 REVIEWED 731643 GAK cyclin G associated kinase In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. [provided by RefSeq, Jul 2008] 4 4 p16 833065 916174 - 843065 926174 - 1580863;1300048;6480464 9299234;18985386;17538018;16895969;16344560;16189514;16161052;15752756;15489334;15240878;14702039;12732633;12477932;12010461;11148137;10887964;10625686;9013862;16169070;21258085;21738487;14968112;19371378;19654208;20711177;18029348;21044948;21058943;20237935;20881269;21292315;21832049;22190034;22505724;22645275;21906983;22198721;22262175;22438815 2580 D6RAQ7;D6RAW3;D6RC24;D6RE78;D6RF16;E9PGR2;H0Y8H5;H0Y9M4;H0YA39;O14976 AB208854;ABBA01019345;ABBA01019346;AC019103;AC139887;AK097714;AK126735;AK127351;AK131464;AK299554;AK309413;AMYH01013840;AMYH01013841;BC000816;BC001290;BC008668;BC063606;BC085005;BC107076;BT007015;CH471131;D88435;DA680073;NM_005255 AAH00816;AAH08668;AAH63606;AAH85005;AAI07077;AAP35661;BAA22623;BAC86662;BAD18609;BAD92091;BAG53518;BAG61499;EAW82644;EAW82645;EAW82646;NP_005246;O14976 Hs.369607 1761703;2107133;2160419;2165490;5015404;5016478;5021872;5493029 GAK__6772;GDB:434012;L17705;SHGC-145680;SHGC-68043;UniSTS:483844;WI-20233;sY3084 DNAJ26;DNAJC26;FLJ16629;FLJ40395;MGC99654 OTTHUMP00000147520;OTTHUMP00000217314;auxilin-2;cyclin-G-associated kinase APPROVED protein-coding ENSG00000178950 4113 03631 602052 VALIDATED 1346582 GAL3ST2 galactose-3-O-sulfotransferase 2 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008] 2 2 q37.3 242364913 242392375 + 242716240 242743702 + 1580863;6480464 11029462;15926885;15921657;15489334;14701868;12477932;12036446;11926988;11504739;11333265;11323440;11181995 64090 Q9H3Q3 AB040610;ABBA01006065;ABBA01006066;AC114730;AMYH01011634;BC117293;BC117295;CH471063;NM_022134 AAI17294;AAI17296;AAX82021;BAB16844;EAW71293;NP_071417;Q9H3Q3 Hs.632556 GAL3ST-2;GP3ST OTTHUMP00000200071;beta-galactose-3-O-sulfotransferase 2;gal 3-O-sulphotransferase;gal-beta-1, 3-GalNAc 3'-sulfotransferase 2;galactose-3-O-sulfotransferase 2;galbeta1-3GalNAc 3'-sulfotransferase 2;glycoprotein beta-Gal 3'-sulfotransferase 2 APPROVED protein-coding ENSG00000154252 24869 16303 608237 REVIEWED 1350287 GAL3ST1 galactose-3-O-sulfotransferase 1 Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. The product of this gene is galactosylceramide sulfotransferase which catalyzes the conversion between 3'-phosphoadenylylsulfate + a galactosylceramide to adenosine 3',5'-bisphosphate + galactosylceramide sulfate. Activity of this sulfotransferase is enhanced in renal cell carcinoma. [provided by RefSeq, Jul 2008] 22 22 q12.2 29280624 29290876 - 30950624 30960876 - 1580863;6480464;6907045 9030544;15489334;15461802;12477932;12175333;10785389;9847074;8830034;6955451;6280086;5562350;4710574;2562955;911873;19587831;21832049 9514 C9J2M1;C9J2X7;C9J3S3;C9J4I2;C9J6M2;C9J993;C9JE31;C9JGL4;C9JIS3;C9JKD7;C9JLB5;C9JN55;C9JTV3;C9JU54;C9JYD7;C9K037;Q99999 AB029901;ABBA01055300;ABBA01055301;ABBA01055302;AC005006;AK313097;AMYH01012707;BC014649;BC019077;CH471095;CR456350;D88667;NM_004861 AAH14649;AAH19077;ABM83198;ABM86399;BAA13673;BAA89503;BAG35921;CAG30236;CAK54491;CAK54790;EAW59899;EAW59900;EAW59901;EAW59902;EAW59903;NP_004852;Q99999 Hs.17958 1644961;1650752 AL008650;SGC33827 CST 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase;3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase;GalCer sulfotransferase;OTTHUMP00000199361;OTTHUMP00000199362;OTTHUMP00000199363;OTTHUMP00000199364;OTTHUMP00000199365;OTTHUMP00000199366;OTTHUMP00000199367;OTTHUMP00000199368;OTTHUMP00000199369;OTTHUMP00000199370;OTTHUMP00000199371;OTTHUMP00000199372;OTTHUMP00000199373;OTTHUMP00000199374;OTTHUMP00000199375;OTTHUMP00000199401;OTTHUMP00000199402;OTTHUMP00000199403;OTTHUMP00000199404;OTTHUMP00000199405;OTTHUMP00000199406;cerebroside (3'-phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase;cerebroside sulfotransferase;galactosylceramide sulfotransferase APPROVED protein-coding ENSG00000128242 24240 03806 602300 REVIEWED 1343263 GAL3ST3 galactose-3-O-sulfotransferase 3 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 63132938 63141353 - 65564812 65573227 - 65808236 65816651 - 1580863;6480464 11323440;11356829;15489334;14701868;12477932;11333265;10815989;8889548;21926972 89792 Q96A11 AB053232;ABBA01024092;AMYH01003728;AP006287;AY026481;BC113552;BC113554;BM673570;CH471076;NM_033036 AAI13553;AAI13555;AAK01945;BAB61900;EAW74490;NP_149025;Q96A11 Hs.208343 1739965;1852823 D11S4064;D11S4418 GAL3ST-3;GAL3ST2;MGC142112;MGC142114 OTTHUMP00000233985;beta-galactose-3-O-sulfotransferase 3;gal-beta-1, 3-GalNAc 3'-sulfotransferase 3;galactose 3'-sulfotransferase;galactose-3-O-sulfotransferase 3;galbeta1-3GalNAc 3'-sulfotransferase 3 APPROVED protein-coding 24144 10501 608234 REVIEWED 1347926 GALC galactosylceramidase This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 14 14 q31 87469111 87529660 - 88399358 88460009 - 1580863;6480464;6907045;7240710 7601472;17579360;17458901;16607461;16344560;15657896;15489334;12477932;11814461;10833326;10477434;10234611;9434153;9338580;9272171;8940268;8889548;8786069;8595408;8399327;8297359;8281145;8162701;7581365;7417782;6811701;3278379;20800603;20877624;20410102;21102463;20301416;20886637;21070211;22073273;23462331;22792062;23276707;22923054;23128233;23044012 2581 E7EPA4;G3V255;G3V4M2;G3V5E8;H0YJG8;H0YJV6;J3KN25;P54803 ABBA01030534;ABBA01030535;AI025909;AK294040;AK296530;AK302519;AK302683;AK302956;AL136501;AL157955;AMYH01005931;BC036518;BE501000;BQ015788;BU675449;CH471061;CK299420;D25283;D25284;D86181;DA247447;DA323070;DA332567;DB366392;DC334180;H80485;L23116;L38559;NG_011853;NM_000153;NM_001201401;NM_001201402 AAA16645;AAA80975;AAH36518;ABM82158;ABM85342;BAA04971;BAA04972;BAA24902;BAG57392;BAG59160;BAG63793;BAG64110;BAH13778;EAW81359;EAW81360;EAW81361;EAW81362;NP_000144;NP_001188330;NP_001188331;P54803 Hs.513439 1337956;1745291;1745293;1745297;1745299;1761079;2146342;5016544;5117701 D14S48;GDB:599283;GDB:599291;GDB:599296;GDB:599299;GDB:599311;GDB:599315;SHGC-145060;WI-9280 GALCERase;OTTHUMP00000027906;OTTHUMP00000244262;OTTHUMP00000244263;OTTHUMP00000244264;galactocerebrosidase;galactocerebroside beta-galactosidase;galactosylceramide beta-galactosidase;galactosylceraminidase APPROVED protein-coding ENSG00000054983 4115 06057 245200;606890 REVIEWED 1350990 GALM galactose mutarotase (aldose 1-epimerase) This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009] 2 2 p22.1 38746743 38815049 + 38893052 38961909 + 1580863;6480464;6907045 18052213;16344560;15489334;15026423;12923184;12753898;12477932;5661008;4963341;21339755 130589 B8ZZ75;F8WB82;H7C1B5;H7C320;Q96C23 ABBA01075008;ABBA01075009;ABBA01075010;ABBA01075011;ABBA01075012;ABBA01075013;ABBA01075014;ABBA01075015;AC074366;AK291489;AMYH01010267;AMYH01010268;AY064382;AY064385;BC014916;BC019263;CH471053;DA984992;NM_138801;U11036 AAA67652;AAH14916;AAH19263;AAL62475;AAL62476;AAX93101;ADZ15856;BAF84178;EAX00367;NP_620156;Q96C23 Hs.435012 1340329;1700276;2110413;2182987 D2S2331;GALM__6775;RH103756;RH46052 BLOCK25;IBD1 OTTHUMP00000128262;aldose 1-epimerase;galactomutarotase APPROVED protein-coding ENSG00000143891 24063 13559 608883 REVIEWED 733015 GALE UDP-galactose-4-epimerase This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 p36-p35 23994676 23999881 - 24122089 24127294 - 704404;6480464;6907045;7240710 15175331;16302980;18029348;19250319;19027726;18188677;16710414;16611573;16385452;16344560;16301867;15701638;15639193;15489334;14702039;12477932;11279193;10801319;9973283;9700591;9538513;9326324;8593531;8295413;7305435;6408303;477411;16189514;11279032;21832049;22613355;23644136;23824909;19738201;21963094;23000965;21139048;21890473;21906983;21987572;21290786 2582 Q14376;Q38G75;Q5QPP1;Q5QPP2;Q5QPP3;Q5QPP4;Q5QPP9 ABBA01059886;AF022382;AK057302;AK096127;AK307354;AK314397;AL031295;AL530475;AMYH01000363;BC001273;BC050685;BC056880;BI835132;BQ437612;CH471134;DA043957;DQ233667;DQ233668;HH806482;L41668;NG_007068;NM_000403;NM_001008216;NM_001127621 AAB86498;AAC39645;AAH01273;AAH50685;ABB04109;ABB04110;ABM82679;ABM85860;BAG37021;BAG51901;CBX87741;EAW95083;EAW95084;EAW95085;EAW95086;EAW95087;EAW95088;EAW95089;EAW95090;EAW95091;EAW95092;EAW95093;NP_000394;NP_001008217;NP_001121093;Q14376 Hs.632380 1666456;1745763;1852627;2138850;2158632;2184254;2219806 D1S3295;G23097;GDB:636092;HMGCL__6576;RH68992;SHGC-12784;SHGC-74383 FLJ95174;FLJ97302;SDR1E1 OTTHUMP00000002991;OTTHUMP00000002994;OTTHUMP00000037931;UDP galactose-4'-epimerase;UDP-galactose 4-epimerase;UDP-glucose 4-epimerase;galactose-4-epimerase, UDP-;galactowaldenase;short chain dehydrogenase/reductase family 1E, member 1 APPROVED protein-coding ENSG00000117308 4116 06092 230350;606953 REVIEWED 1313365 GALK1 galactokinase 1 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008] 17 17 q24 71265613 71272875 - 73754018 73761280 - 1300192;1580863;6480464;6907045;7240710 7670469 12694189;7542884;14596685;15024738;18029348;8908517;19309526;17517531;15590630;15526155;15489334;15003454;12942049;12477932;11978884;11978883;11231902;11139256;10790206;10570908;10521295;6263522;21145461;19913121;20628086;19615732;20405025;22990118;21832049;22632133;22797925;19167051;21264483;21139048;21890473;21906983 2584 B4E1G6;K7EII7;K7ERJ9;K7ERN9;P51570 ABBA01028771;ABBA01028772;AC087749;AF084935;AK130064;AK303748;AK303832;AK310203;AK314890;AK316181;AMYH01008635;BC001166;BT007005;CH471099;L76927;NG_008079;NM_000154;U26401 AAA96147;AAB51607;AAC35849;AAH01166;AAP35651;ABW03633;BAC85288;BAG37404;BAG64720;BAG64778;BAH14552;EAW89316;NP_000145;P51570 Hs.407966 1670460;1745901;1745903;2130226 GDB:681741;GDB:681744;RH18101;RH47571 GALK;GK1 galactokinase;galactose kinase APPROVED protein-coding ENSG00000108479 4118 05057 230200;604313 REVIEWED 1318611 GALK2 galactokinase 2 This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q21.1-q21.2 26341552 26515592 + 47235268 47409294 + 49447976 49622002 + 1580863;6480464;6907045 7542884;16006554;15489334;14702039;12477932;8798585;8702831;1438294;19874134;21890473;21906983 2585 B3KUV8;B7ZAX5;H0YK10;H0YK30;H0YLF9;H0YLK3;H0YLL3;H0YLL8;H0YM44;H0YML1;H0YN31;H0YN87;H0YND3;H0YNR7;Q01415 ABBA01039127;ABBA01039128;ABBA01039129;ABBA01039130;AC013452;AC022306;AC036102;AF461816;AK098049;AK301361;AK316440;AL832745;AMYH01006630;AMYH01006631;BC005141;BI766538;BT006901;BX096260;BX455251;CA841825;CH471082;M84443;NM_001001556;NM_002044 AAA58612;AAH05141;AAP35547;AAP97708;ABM84668;ABM92200;BAG53570;BAG62905;BAH14811;EAW77367;NP_001001556;NP_002035;Q01415 Hs.122006;Hs.738080;Hs.738534 1337659;1657113;1727847;5022588 D15S119;D5S1597E;G63339;RH66841 GK2;MGC1745 N-acetylgalactosamine kinase;galNAc kinase APPROVED protein-coding ENSG00000156958 4119 00657 137028 REVIEWED 1343157 GALNS galactosamine (N-acetyl)-6-sulfate sulfatase This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] 16 16 q24.3 87407643 87450885 - 88880142 88923374 - 1580863;6480464;7240710 8325655;18710657;18285341;17876718;17544310;16378744;16344560;16287098;15489334;15241807;14702039;12721840;12477932;12442278;11524742;10814710;9660054;9521421;9375852;9298823;8910459;8889548;8826435;8651279;8434612;8020961;8001980;7795586;7668283;7633425;7581409;7575473;6224421;4218100;1953646;1794986;1755850;1522213;15962010;19373925;19394256;20379614;20574428;21251309;23401410;22940367;22078177;23313879 2588 F5H325;H3BNU2;H3BP66;H3BSU9;H3BV24;P34059;Q6MZF5;Q96I49 ABBA01013587;ABBA01013588;AC092384;AK021488;AK124834;AK131096;AK294390;AK308269;AK310392;AK312655;AMYH01007914;AMYH01007915;AMYH01007916;AY129021;BC007825;BC018027;BC050684;BC056151;BC109229;BX649181;CH471184;CK301132;D17629;DA010361;NG_008667;NM_000512;U06088 AAC51350;AAH07825;AAH50684;AAH56151;AAM98764;BAA04535;BAB13833;BAC85146;BAG35538;BAH11753;CAE46199;EAW66757;EAW66758;EAW66759;NP_000503;P34059 Hs.271383 1662056;1678581;1698332;1744753;1744755;1744757;1744759;1745385;2132119;5020881;5020948;5022425;5037552;5117126;5117144 D22S296;D8S2279;G35510;GDB:437737;GDB:438959;GDB:556702;GDB:556706;GDB:556709;GDB:556712;GDB:603988;L17709;RH102707;RH71162;RH91120;SHGC-61140 FLJ17434;FLJ42844;FLJ98217;GALNAC6S;GAS;GalN6S;MPS4A N-acetylgalactosamine-6-sulfatase;N-acetylgalactosamine-6-sulfate sulfatase;OTTHUMP00000175193;chondroitinase;chondroitinsulfatase;galNAc6S sulfatase;galactose-6-sulfate sulfatase APPROVED protein-coding ENSG00000141012 4122 08357 253000;612222 REVIEWED 736264 GALNT1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008] 18 18 q12.1 31488594 31545792 + 33234533 33291798 + 1580863;6480464;6907045 7592619;9295285;12506059;19487295;18987618;18268124;17916404;16344560;16341674;15851553;15489334;14636048;12925576;12477932;12364335;12199709;9847074;9592121;9394011;9312074;9050910;8889548;8727794;8690719;8663203;2681181;16712791;20498016;19460755;19524017;20142253;21349845;21906983;22042768;19322201;23317233;9472029;22183981 2589 F5GY99;K7EJV8;K7EK46;Q05BM8;Q10472 ABBA01022443;AC090220;AC090229;AJ505952;AK293062;AMYH01008938;AP001394;BC038440;BC047746;BM668856;BM838102;CB164572;CH471088;CK431238;DA991281;DN996147;NM_020474;S82597;U41514;X85018;Y10343 AAC50327;AAD14406;AAH38440;AAH47746;BAF85751;CAA59380;CAD44535;EAX01359;EAX01360;NP_065207;Q10472 Hs.514806 1680882;1683986;1783756;2148488;2171810;5491774 GALNT1;RH26624;RH47238;SHGC-172607;SHGC-34319;WI-11862 GALNAC-T1 GalNAc transferase 1;OTTHUMP00000163385;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1;polypeptide GalNAc transferase 1;polypeptide N-acetylgalactosaminyltransferase 1;pp-GaNTase 1;protein-UDP acetylgalactosaminyltransferase 1 APPROVED protein-coding ENSG00000141429 4123 03781 602273 REVIEWED 1348778 GALNT10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010] 5 5 5 q33.2 149750055 149876200 + 153550488 153780003 + 153570295 153800544 + 1580863;6480464;6907045 18562306;15489334;14702039;12477932;12417297;19460755;20379614;21701570 55568 C9JGD4;F2Z2M7;Q9Y4M4 AB078145;ABBA01026239;ABBA01026240;ABBA01026241;AC008625;AC008672;AC008675;AC010295;AF086521;AJ505950;AK023782;AK023815;AK024931;AK074132;AK127135;AL096739;AMYH01015729;BC007224;BC050333;BC072450;BC098444;BE875528;BG743249;BQ549377;BU661066;CH471062;NM_198321 AAH07224;AAH72450;AAH98444;AAI48616;AAI53182;BAB14676;BAB84958;BAC56890;BAG54441;CAB46378;CAD44532;EAW61639;EAW61640;EAW61641;EAW61642;EAW61643;EAW61644;NP_938080;Q86SR1 Hs.631797 1336911;1658858;1665394;1671782;1682105;1688038;1688783;1780104;1780990;1785546;1849181;1857969;2116243;2129719;2149580;2155410;2157727;2159788;2176960;2180059;2185145;5016799;5019787;5037554;5093012;7186124 A008Z36;A009E08;A009U37;D5S2104;D5S497;D8S2282;G32468;G32854;RH17968;RH35943;RH36251;RH66371;RH70092;RH79696;RH79856;RH91542;RH94350;SGC34481;SHGC-154419;SHGC-154832;SHGC-52459;SHGC-58089;STS-D45606;T16113;bac5629T DKFZp586H0623;FLJ00205;FLJ11715;GalNAcT10;PPGALNACT10;PPGANTASE10;pp-GalNAc-T10 GalNAc transferase 10;OTTHUMP00000160640;OTTHUMP00000224314;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10;polypeptide N-acetylgalactosaminyltransferase 10 APPROVED protein-coding ENSG00000164574 19873 12157 608043 REVIEWED 1343318 GALNT13 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004] 2 2 2 q24.1 148342630 148924907 + 154436672 155018735 + 154728426 155310489 + 1302747;1580863;6480464;6907045 12407114 18649358;17903295;15815621;15231747;15146197;14702039;12477932;11572484;11329013;9847074;21145461;21658281;20379614;22679008;23251661 114805 C9JLI4;H7BZG2;H7BZU4;H7C0T6;H7C2I5;Q08ER7;Q68VI8;Q8IUC8 AB067505;AB078142;ABBA01004807;ABBA01004808;ABBA01004809;ABBA01004810;ABBA01004811;ABBA01004812;ABBA01004813;ABBA01004814;ABBA01004815;AC008166;AC009227;AC009297;AC092584;AC092589;AC133107;AJ505991;AK123152;AK131195;AK308675;AMYH01011185;AMYH01011186;BC101031;BC101032;BC101033;BC101034;BG221433;CH471058;CN267103;CQ816246;NM_052917;R38990 AAF19246;AAI01032;AAI01033;AAI01034;AAI01035;BAB67811;BAC54545;BAC85542;BAG54747;CAD44533;CAG32964;EAX11464;EAX11465;NP_443149;Q8IUC8 Hs.470277 1336432;1644267;1646512;1656713;1664579;1665803;1695932;1708476;1712927;1734946;1751985;1848873;2110415;2128452;2129752;2172470;2174680;5093690;7185141 1782;D2S1704E;D2S2509;D2S252;D2S2705;D2S321;G09448;G09811;G32866;GALNT13__6778;RH120553;RH18343;RH48167;RH65494;SGC30421;SHGC-105985;SHGC-78888;SHGC-85026 FLJ16031;FLJ41157;GalNAc-T13;H_NH0187G20.1;KIAA1918;MGC119459;MGC119461;WUGSC:H_NH0187G20.1 GalNAc transferase 13;OTTHUMP00000162746;OTTHUMP00000204478;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13;polypeptide GalNAc transferase 13;polypeptide N-acetylgalactosaminyltransferase 13;pp-GaNTase 13;protein-UDP acetylgalactosaminyltransferase 13 APPROVED protein-coding ENSG00000144278 23242 16325 608369 VALIDATED 1347297 GALNT18 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 11 11 11 p15.3 11418509 11767631 - 11248999 11600128 - 11292421 11643561 - 737633;6480464;6907045 12477932 20080650;20379614;19240061;15489334;14702039;9110174;8619474;22186971;22491018;22171061;22238593 374378 Q58A54;Q6P9A2 AB078147;ABBA01061144;ABBA01061145;ABBA01061146;ABBA01061147;ABBA01061148;ABBA01061149;AC023946;AC084243;AC104031;AC131935;AF131852;AJ626724;AK055111;AMYH01003392;BC037341;BC060864;CH471064;NM_198516 AAD20062;AAH37341;AAH60864;BAD93179;BAG51470;CAF25035;EAW68545;NP_940918;Q6P9A2 Hs.655152 1336500;1656348;1656610;1663120;1682239;1712569;1731245;1731269;1731279;1737063;1737223;1737693;1738035;1738037;1742507;1758449;1760345;1761877;1761967;1782350;1782354;1790301;2121009;2144420;5020181 CSNK2A1;D11S2599;D11S2815;D11S3087;D11S3296;D11S3654;D11S3656;D11S4189;D11S475;D11S587;D11S688;GDB:197832;RH10988;RH94211;SHGC-141808;SHGC-141921;SHGC-145822;SHGC-145899;SHGC-147253;SHGC-148258;SHGC-148377;STS-M78020;U51866;WI-15173;WI-16945 GALNACT18;GALNT15;GALNTL4;GalNAc-T15;GalNAc-T18;MGC71806 GalNAc-transferase 18;OTTHUMP00000230779;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4;galNAc-T-like protein 4;polypeptide GalNAc transferase-like protein 4;pp-GaNTase-like protein 4;protein-UDP acetylgalactosaminyltransferase-like protein 4;putative polypeptide N-acetylgalactosaminyltransferase-like protein 4 APPROVED protein-coding ENSG00000110328 30488 13564 615136 VALIDATED 1346736 GALNT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 7 7 7 q36.1 146280345 146376985 + 151353711 151450360 + 151722778 151819427 + 1580863;6480464;6907045 16344560;15489334;15146197;14702039;12853948;12690205;12477932;11925450;9847074;20422447;20547088 63917 B3KWF4;B7Z3L9;B7Z5G5;C9J111;C9J8A7;C9JMT8;C9JPR8;C9K0N9;H7BZL5;Q8NCW6 AACC02000108;ABBA01035141;ABBA01035142;AC006017;AK025287;AK026056;AK124934;AK128545;AK296097;AK298911;AMYH01018148;AMYH01018149;BC059377;CH471173;CN309655;DA308896;DA748534;NM_022087;Y12434 AAD45821;AAH59377;AAI67834;BAB15105;BAB15338;BAG54116;BAH12255;BAH12901;CAC79625;EAL24518;EAW53975;EAW53976;NP_071370;Q8NCW6 Hs.647109 1677620;2138755;2141425;2173876;2185186 GDB:1318170;GDB:1318384;RH45229;RH93046;SHGC-30134 FLJ21634;GALNACT11;MGC71630 GALNAC-T11;OTTHUMP00000211837;OTTHUMP00000211839;OTTHUMP00000211841;OTTHUMP00000211842;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11;polypeptide GalNAc transferase 11;polypeptide N-acetylgalactosaminyltransferase 11;pp-GaNTase 11;protein-UDP acetylgalactosaminyltransferase 11 protein-coding ENSG00000178234 19875 13560 615130 VALIDATED 1312992 GALNT15 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 3 3 3 p25.1 16155150 16210189 + 16191160 16245166 + 16216184 16271253 + 6480464;6907045 16381901;11256614;15489336;15147861;14702039;12975309;11597177;11230166;12477932;11076863;20800603;21988832 117248 C9JGI4;H7BZD6;Q8N3T1 AB078149;ABBA01025131;ABBA01025132;AC087858;AC090953;AF361251;AJ505964;AK094780;AK312425;AL831925;AL832575;AL832736;AMYH01013002;AY035399;AY358443;BC014789;BC030625;CH471055;CQ816244;CS300693;NM_054110 AAH14789;AAH30625;AAK48940;AAK63127;AAQ88808;ABM81979;ABM85158;BAD29961;BAG35335;BAG52928;CAD38585;CAD44542;CAD89983;CAG32963;CAK32357;CAL37699;CAL38199;EAW64266;EAW64267;NP_473451;Q8N3T1 Hs.411308 2110419;2118285;2127784;5024761 D3S2431;D3S3472;GALNTL2__6783;RH36905 DKFZp686H1113;GALNACT15;GALNT13;GALNT7;GALNTL2;PIH5 OTTHUMP00000210949;OTTHUMP00000211022;UDP-GalNAc transferase T15;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2;galNAc-T-like protein 2;polypeptide GalNAc transferase-like protein 2;polypeptide N-acetylgalactosaminyltransferase 13;polypeptide N-acetylgalactosaminyltransferase-like protein 2;pp-GaNTase-like protein 2;pp-GalNAc-T15;pregnancy-induced hypertension syndrome-related protein 5;protein-UDP acetylgalactosaminyltransferase-like protein 2 APPROVED protein-coding ENSG00000131386 21531 13563 615131 VALIDATED 1323692 GALNT12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011] 9 9 9 q22.33 72083823 72126201 + 100609802 100652180 + 101569981 101612363 + 1580863;6480464;6907045;7240710 15557789;15489334;15164053;14702039;12477932;12135769;22461326;19617566;8889548;21832049 79695 Q68VJ1;Q8IXK2 AB040673;AB078146;ABBA01042906;ABBA01042907;AJ132365;AJ505963;AK024865;AL136084;AMYH01021564;AMYH01021565;BC013945;CB243715;CH471105;CQ816242;NG_028218;NM_024642 AAH13945;AAI48410;AAI48740;BAB15027;BAC07181;BAD93346;CAC80100;CAD44541;CAG32962;EAW58897;NP_078918;Q8IXK2 Hs.47099 1668901;1756437;1757097 RH48142;SHGC-143423;SHGC-144486 CRCS1;FLJ21212;GalNAc-T12 OTTHUMP00000021781;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12;colorectal cancer, susceptibility to 1;polypeptide GalNAc transferase 12;polypeptide N-acetylgalactosaminyltransferase 12;pp-GaNTase 12;protein-UDP acetylgalactosaminyltransferase 12 APPROVED protein-coding ENSG00000119514 19877 13561 608812;610290 REVIEWED 1320757 GALNT14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p23.1 30976434 31204286 - 30986837 31215075 - 31133331 31361592 - 6480464;6907045 17434446;15489334;14702039;12975309;12507512;12477932;8125298;20356418;19805900;20179215;20379614;20800603;16344560;22441125;22174851 79623 F5H263;H7C168;H7C1E3;J3KQQ5;Q9H9J8 AB078144;ABBA01074850;ABBA01074851;ABBA01074852;AC009301;AC009305;AC015980;AJ505966;AK022753;AK074394;AK091313;AK122747;AK225808;AK298735;AK309417;AMYH01010219;AY358758;BC006269;BC010659;CH471053;DA752701;HH961860;NM_001253826;NM_001253827;NM_024572;NR_045602;Y09324 AAH06269;AAH10659;AAQ89118;AAX88899;AAX93209;AAY24301;ADZ15449;BAB14227;BAC03634;BAC56889;BAG53701;BAH12861;CAA70505;CAD44543;CBX51403;EAX00486;EAX00487;EAX00488;EAX00489;NP_001240755;NP_001240756;NP_078848;Q96FL9 Hs.468058 1335793;1337689;1665857;1695542;1695708;1717011;1751797;1788922;1789276;1789278;1789280;1854226;2107135;2181970;7185310 D2S2255;D2S400;G29160;G67794;G67940;G67941;G67942;GALNT14__6779;RH12321;RH124052;RH65587;SHGC-105824;SHGC-68705;SHGC-82611 FLJ12691;FLJ13977;GALNT15;GalNac-T10;GalNac-T14 OTTHUMP00000082713;OTTHUMP00000082714;OTTHUMP00000082715;OTTHUMP00000201067;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T14;polypeptide GalNAc transferase 14;polypeptide N-acetylgalactosaminyltransferase 14;polypeptide N-acetylgalactosaminyltransferase 15;pp-GaNTase 14;protein-UDP acetylgalactosaminyltransferase 14 APPROVED protein-coding ENSG00000158089 22946 12194 608225 VALIDATED 1320965 GALNT16 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 14 14 14 q24.1 49790817 49885331 + 68796668 68890936 + 69726681 69821190 + 1580863;6480464;6907045 15489334;14702039;12477932;10574461;16344560;20379614;22186971 57452 Q68VJ8;Q8N428 AB032956;AB078143;ABBA01023678;ABBA01030830;ABBA01030831;AJ505951;AK091426;AK289745;AK299588;AK315848;AL157996;AL359317;AMYH01005825;BC036812;BC098578;BC122545;BG059801;CH471061;CQ816250;DA493083;NM_001168368;NM_020692 AAH36812;AAH98578;AAI22546;BAA86444;BAD93178;BAF82434;BAF98739;BAG61521;CAD44534;CAG32966;EAW80986;EAW80987;EAW80988;NP_001161840;NP_065743;Q8N428 Hs.21035 1339702;1656617;1657354;2169293;5015861;5020740;5024695;5037552;5120425;7185938 D10S16;D8S2279;D9S757;G31447;G35669;G35705;GDB:315605;L17809;RH98158 GALNACT16;GALNTL1;GalNAc-T16;KIAA1130;MGC141855 OTTHUMP00000245507;OTTHUMP00000245508;OTTHUMP00000245509;OTTHUMP00000245510;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1;galNAc-T-like protein 1;polypeptide GalNAc transferase-like protein 1;polypeptide N-acetylgalactosaminyltransferase 16;pp-GaNTase-like protein 1;protein-UDP acetylgalactosaminyltransferase-like protein 1;putative polypeptide N-acetylgalactosaminyltransferase-like protein 1 APPROVED protein-coding ENSG00000100626 23233 13562 615132 VALIDATED 1350587 GALNT8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 6451758 6503719 + 4700013 4752153 + 4829752 4881892 + 1580863;6907045 10767557;12438318;12477932;20800603 26290 H0YFU9;H0YGU9;Q9NY28 ABBA01048762;ABBA01048763;AC005833;AJ271385;AJ505959;AMYH01004197;BC140888;BC140889;CH471116;NM_017417 AAI40889;AAI40890;CAB89199;CAD44539;EAW88835;NP_059113;Q9NY28 Hs.511985 FLJ17364;GALNAC-T8 GalNAc transferase 8;OTTHUMP00000232121;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8;polypeptide GalNAc transferase 8;polypeptide N-acetylgalactosaminyltransferase 8;pp-GaNTase 8;probable polypeptide N-acetylgalactosaminyltransferase 8;protein-UDP acetylgalactosaminyltransferase 8 APPROVED protein-coding ENSG00000130035 4130 09374 606250 REVIEWED 1345094 GALNT4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010] 12 12 q21.33 88437320 88442666 - 89913189 89918583 - 6480464;6907045 9804815;9592121;12506059;18259693;15489334;12477932;10984485;10737800;12754287;12473113;16344560;17215257;18826381;19294005;19322201 8693 Q8N4A0 ABBA01053417;AC010201;AC025034;AK026150;AK026438;AK312870;AMYH01004648;AW835269;BC036390;CH471054;CR739813;DA109687;NM_003774;Y08564 AAH36390;ABM82610;ABM85795;ABM87830;ABW03407;BAG35722;CAA69875;EAW97428;NP_003765;Q8N4A0 Hs.25130 2108109;2173078;5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;GALNT4_8847;SHGC-36408;sY3084 FLJ93314;GALNAC-T4;GalNAcT4 GalNAc transferase 4;OTTHUMP00000232520;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 4;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4;polypeptide GalNAc transferase 4;polypeptide N-acetylgalactosaminyltransferase 4;pp-GaNTase 4;protein-UDP acetylgalactosaminyltransferase 4 APPROVED protein-coding ENSG00000257594 4126 09152 603565 REVIEWED 1321743 GALNT2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) This gene encodes polypeptide N-acetylgalactosaminyltransferase 2, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation in a cell is regulated by a repertoire of GalNAc-transferases. [provided by RefSeq, Jul 2008] 1 1 q41-q42 228269651 228484569 + 230202956 230417875 + 1580863;6480464;6907045 12438318;9295285;9852147;12506059;19148283;19060906;18987386;18596051;18193044;18193043;16710414;15489334;14702039;12925576;12754287;12477932;9592121;9442070;9394011;9312074;8889549;8663203;7592619;19913121;20570916;20571754;20628086;20679960;20686565;18029348;19460755;19487539;19656773;20158509;20160193;20167577;20379614;20430392;20864672;22939629;21651894;22952570;21990321;21933382;22152306;21699783;21139048;21906983;22418572;22399527;22992780;23303382;21963094;23117232;22916037 2590 B7Z8V8;G3V1S6;Q10471 ABBA01007320;ABBA01007321;ABBA01007322;ABBA01007323;AK025845;AK056187;AK098468;AK290048;AK296886;AK300453;AK304029;AL078646;AL117349;AL136988;AMYH01001811;BC041120;BC050583;CH471098;FJ515852;N53765;NG_011854;NM_004481;X85019;Y10344 AAH41120;ACS13744;BAF82737;BAH12448;BAH13288;BAH14094;CAA59381;EAW69908;EAW69909;EAW69910;EAW69911;NP_004472;Q10471 Hs.743964 1655454;1692060;1704132;1739401;1769305;1849953;2121261;2121263;2130321;2138086 A001V25;AL009628;AL009748;AL034013;D13S1146E;G19686;RH12675;RH18350;RH64521;SHGC-79753 GalNAc-T2 OTTHUMP00000035893;UDP-GalNAc transferase 2;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2;polypeptide GalNAc transferase 2;polypeptide N-acetylgalactosaminyltransferase 2;pp-GaNTase 2;protein-UDP acetylgalactosaminyltransferase 2 APPROVED protein-coding ENSG00000143641 4124 03782 602274 REVIEWED 737016 GALNT5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 2 2 2 q24.1 151727502 151781057 + 157822586 157876159 + 158114340 158167913 + 1580863;6480464;6907045 12477932;10545594;17203973 11227 Q7Z7M9 ABBA01004843;AC016732;AF154107;AJ245539;AJ505956;AK292154;AMYH01011196;AY277591;BC142676;BC142703;BC144211;CH471058;NM_014568 AAF15313;AAI42677;AAI42704;AAP34404;BAF84843;CAB65104;CAD44537;EAX11449;NP_055383;Q7Z7M9 Hs.269027 1673832;1687187;1731945;1754639;2146637;2183208 D2S419;RH68879;RH94272;SHGC-132987;SHGC-33719;SHGC-58330 GALNAC-T5;GALNACT5;MGC165041 OTTHUMP00000162804;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5;polypeptide GalNAc transferase 5;polypeptide N-acetylgalactosaminyltransferase 5;pp-GaNTase 5;protein-UDP acetylgalactosaminyltransferase 5 protein-coding 4127 09970 615129 PROVISIONAL 1315063 GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008] 2 2 q24-q31 166312559 166359049 - 166604313 166650803 - 1580863;6480464;6907045;7240710 9592121;9295285;8663203;12506059;19411468;18976705;18618993;17853462;17361208;17351710;16940445;16638743;16344560;15860931;15489334;15133511;15041730;14735190;14555840;12708471;12477932;12232759;9884405;9394011;21625220;21533022;18029348;19830424;20358599;21347749;22504420 2591 C9J2C3;C9J388;C9JW45;C9JXX2;C9JY57;E7EUL0;H7BZS4;Q14435 ABBA01004921;ABBA01004922;AC009495;AJ505954;AK307391;AK313389;AMYH01011228;BC056246;BC113565;BC113567;BU567493;BX094158;BX647473;CH471058;DB098143;DB727693;NG_012069;NM_004482;X92689;Y10345 AAH56246;AAI13566;AAI13568;AAY14678;ADR83086;BAG36187;CAA63371;CAD44536;EAX11323;EAX11324;NP_004473;Q14435 Hs.170986 1338133;1754579;1846907;2106299;2110417;2129501;2140530;2165762 A004M14;D2S1313;D2S2384;D6S2748;GALNT3__6780;SHGC-132864;SHGC-53704;WI-16907 DKFZp686C10199;GalNAc-T3;HFTC;HHS;MGC61909 GalNAc transferase 3;OTTHUMP00000163020;OTTHUMP00000204915;OTTHUMP00000204919;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3;polypeptide GalNAc transferase 3;polypeptide GalNAc-transferase T3;polypeptide N-acetylgalactosaminyltransferase 3;pp-GaNTase 3;protein-UDP acetylgalactosaminyltransferase 3 APPROVED protein-coding ENSG00000115339 4125 03453 211900;601756 REVIEWED 1321517 GALNT6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008] 12 12 12 q13 50547314 50586667 - 50032100 50071467 - 51745833 51785200 - 1580863;6480464;6907045 15489334;10464263;12506059;19287074;18854599;16344560;16303743;14702039;12477932;8125298;21472136;20379614;21988832 11226 Q8NCL4 AB265820;ABBA01031611;AC046135;AK025961;AK074658;AK092496;AK296852;AMYH01004465;BC035822;BC114505;BC114949;CH471111;CS501500;DB001644;NM_007210;Y08565 AAH35822;AAI14506;ABM82150;ABM85333;BAB15297;BAC11118;BAG52560;BAG59418;BAJ10977;CAA69876;CAM83953;EAW58190;NP_009141;Q8NCL4 Hs.505575 1644982;1716225;1768365;1794228;1794230;1794232;1794234;2152473;5014063;5015861;5016675;5016781;5020988;5022450;7185938 D10S16;D10S275;D15S1390;D22S958;PMC310830P32;PMC310830P34;PMC310830P35;PMC310830P36;RH121139;RH45854;RH79740;SGC38117;SHGC-67307;WI-11703 GALNAC-T6;GalNAcT6 GalNAc transferase 6;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6;UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6;polypeptide GalNAc transferase 6;polypeptide N-acetylgalactosaminyltransferase 6;pp-GaNTase 6;protein-UDP acetylgalactosaminyltransferase 6 APPROVED protein-coding 4128 05512 605148 REVIEWED 1604259 GALP galanin-like peptide This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, may have vasoactive properties and serve as a marker for neuroblastic tumors.[provided by RefSeq, Mar 2009] 19 19 19 q13.43 53731097 53740851 + 61379201 61388956 + 56687389 56697144 + 2313737;2313739;6480464 16046316;15256810 18830724;17604107;17535903;16954604;16787232;12007540;11861493;10601261;20574532 85569 Q9UBC7 ABBA01020838;ABBA01020839;AC024580;AF188492;AF188493;AMYH01010019;AY329637;CH471135;NG_029931;NM_001145546;NM_033106 AAF19724;AAF19725;AAI41469;AAI48723;AAQ99038;EAW72431;NP_001139018;NP_149097;Q9UBC7 Hs.283915 alarin;gal-like peptide;galanin-like peptide APPROVED protein-coding ENSG00000197487 24840 17027 611178 REVIEWED 735333 GALR3 galanin receptor 3 The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22021172 22023286 + 36549335 36551448 + 38219389 38221502 + 728648;1580863;6480464 9722565 9832121;19086053;17083333;11867941;10591208;10441207;9928159;20398908;18577758;2834384;20677014;22889491;20817064;20848231 8484 O60755 AB065934;ABBA01055488;AF067733;AF073799;AF129514;AMYH01012757;AY587582;CH471095;NM_003614;Z97630 AAC18860;AAC35944;AAD47348;AAI72236;AAS98215;BAC06149;EAW60191;NP_003605;O60755 Hs.158353 2114036 GALR3 GAL3-R;GALR-3;OTTHUMP00000198159;galanin receptor type 3;galanin receptor, family member 3 2314778 GLUCO97_H APPROVED protein-coding ENSG00000128310 4134 04736 603692 REVIEWED 1347952 GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008] 4 4 4 q31.1 171415030 171570230 + 174326479 174481693 + 174089904 174245118 + 6480464;6907045 10544240;16344560;16303743;15489334;14702039;12477932;9847074;22399294;19844573;21741600 51809 E9PBY3;H0YAH3;H0YAK0;Q86SF2 ABBA01070371;ABBA01070372;AC097534;AC098596;AC105285;AJ002744;AJ505958;AK128437;AK295509;AMYH01014715;AMYH01014716;BC020541;BC035303;BC046129;BC047468;CH471056;CS051319;DB238519;NM_017423 AAH35303;AAH46129;AAH47468;AAY41020;ADZ16052;BAG58426;CAB60270;CAD44538;CAI72154;EAX04761;NP_059119;Q86SF2 Hs.548088 1683030;2125683;2146912;2151645;2170257;2175367 AFMB033ZH5;D4S821;G01817;RH94368;SHGC-44701;SHGC-67803 GALNAC-T7;GalNAcT7 N-acetylgalactosaminyltransferase 7;OTTHUMP00000219050;OTTHUMP00000219051;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7;polypeptide GalNAc transferase 7;polypeptide N-acetylgalactosaminyltransferase 7;pp-GaNTase 7;protein-UDP acetylgalactosaminyltransferase 7 APPROVED protein-coding ENSG00000109586 4129 10386 605005 REVIEWED 69656 GALNT9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.33 132299988 132366500 - 131246870 131256526 - 132824460 132905905 - 1580863;6480464;6907045 10978536;16344560;14702039;12477932;12407114;8889548;16712791 50614 B3KNR7;F5H317;F5H557;H3BM10;J3KNN1;Q9HCQ5 AB040672;ABBA01012394;ABBA01012395;ABBA01032788;AC138466;AC148477;AC233270;AF458594;AJ505960;AK054820;AK055773;AMYH01004904;AMYH01004905;BC069354;BC093817;BC093819;BC157845;BC171844;BI760629;BM672467;BM925654;CB154648;DA206384;DA370980;DR001000;NM_001122636;NM_021808 AAH93817;AAH93819;AAI57846;AAI71844;AAM49722;ADR82874;BAB13699;BAG51429;BAG51570;CAD44540;NP_001116108;NP_068580;Q9HCQ5 Hs.301062;Hs.658249 1681233;1758159 RH91189;SHGC-147548 GALNAC-T9;GALNACT9 GalNAc transferase 9;OTTHUMP00000238404;OTTHUMP00000238406;OTTHUMP00000240468;UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9;polypeptide GalNAc transferase 9;polypeptide N-acetylgalactosaminyltransferase 9;pp-GaNTase 9;protein-UDP acetylgalactosaminyltransferase 9 APPROVED protein-coding ENSG00000182870 4131 606251 REVIEWED 2293179 GAMTP1 guanidinoacetate N-methyltransferase pseudogene 1 2 2 2 q37.1 226451300 226451626 - 232383027 232460973 - 232674784 232675110 - 391491 ABBA01002038;AC013435;AC073476;AMYH01011561;NG_007653 1655636;1750801;2133770 G16361;SHGC-103670;WI-14572 GAMTP APPROVED pseudo 33982 INFERRED 3277534 GAMTP2 guanidinoacetate N-methyltransferase pseudogene 2 13 13 13 q13.2 16215367 16215914 - 34046339 34046886 - 35148339 35148886 - 100129452 ABBA01010165;AL161716;AMYH01005030;NG_016563 pseudo 37697 INFERRED 2301498 GALNTL6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 4 4 4 q34.1 170062968 171286585 + 172971229 174199285 + 172734575 173961559 + 6480464;6907045 18519826;12477932;14702039;20379614;20977886 442117 D6RCP4;E5D8G0;Q49A17 ABBA01070359;ABBA01070360;ABBA01070361;ABBA01070362;ABBA01070363;ABBA01070364;ABBA01070365;ABBA01070366;ABBA01070367;ABBA01070368;AC024706;AC025561;AC025821;AC093803;AC095045;AC095063;AC097496;AC108064;AC110081;AC110776;AC131952;AJ626725;AK124240;AK295464;AMYH01014709;AMYH01014710;AMYH01014711;AMYH01014712;AMYH01014713;AMYH01014714;AMYH01014715;BC044793;BC047551;BC063015;BX108658;CH471056;GU220060;NM_001034845 AAH47551;ADP69004;BAG58396;CAF25036;EAX04762;NP_001030017;Q49A17 Hs.386236 1338137;1339585;1341844;1645801;1653339;1659992;1695760;1708026;1708122;1715117;1724763;1727069;1743005;1760005;1773372;1776275;1777180;1848458;1848748;2117134;2118403;2120004;2124373;2131091;2134179;2137219;2137648;2145554;2150419;2152795;2154388;2159464;2170209;2170717;2181165;7185472;7185669 A008X29;AFMA183XE9;D15S184;D1S1187;D4S1001;D4S1068;D4S1078;D4S1162;D4S2328;D4S612;D4S621;D4S622;D4S945;G16727;G16814;G16816;G33762;G33873;G62936;GDB:229343;RH119511;RH122588;SHGC-105269;SHGC-12082;SHGC-24215;SHGC-36064;SHGC-50373;SHGC-50730;SHGC-51544;SHGC-60068;SHGC-78752;SHGC-81371;SHGC-81461;SHGC4-1560;WI-21847 GALNACT20;GALNT17;MGC44629 GaNTase 17;GalNAc transferase 17;OTTHUMP00000219021;OTTHUMP00000219023;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20;galNAc-T17;polypeptide GalNAc transferase 17;polypeptide N-acetylgalactosaminyltransferase-like 6;pp-GaNTase 17;protein-UDP acetylgalactosaminyltransferase 17;putative polypeptide N-acetylgalactosaminyltransferase 17 protein-coding 33844 615138 VALIDATED 735654 GALR1 galanin receptor 1 The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008] 18 18 q23 73090721 73111081 + 74962008 74982098 + 1625748;1580863;6480464 15930442 7524088;8670213;19086053;19047085;18973137;18385373;17982695;17083333;15767248;12477932;9808667;9425310;9367674;9168941;8825658;8617199;7534460;19913121;20628086;20171159;20201926;20398908;20468064;18577758;2834384;21430647;21796100;22859720;23251661 2587 P47211 ABBA01015292;ABBA01015293;ABBA01015294;AC100863;AMYH01009114;AY541036;BC095530;CH471117;L34339;NG_009223;NM_001480;U23854;U53511;U90658;U90660 AAA50767;AAB60356;AAC51936;AAC95397;AAH95530;AAS47032;EAW66603;NP_001471;P47211 Hs.272191 1334603;1795892 D18S1115;GALR1_324 GALNR;GALNR1 GAL1-R;GALR-1;OTTHUMP00000163778;galanin receptor type 1 APPROVED protein-coding 4132 02657 600377 REVIEWED 733781 GALR2 galanin receptor 2 Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 70664718 70667399 + 71582487 71585168 + 74070892 74073573 + 1580863;6480464 9480833;9685625;9832121;19086053;18272487;17083333;15489334;14592962;12477932;11867941;9880084;2834384;18577758;21345369 8811 O43603 ABBA01028759;AC018665;AF040630;AF042782;AF058762;AF080586;AMYH01008639;BC069130;BC074914;BC074915;BC109051;BC109052;CH471099;EF577401;NM_003857 AAC18118;AAC36587;AAC39634;AAD08671;AAH69130;AAH74914;AAH74915;AAI09052;AAI09053;ABQ52421;EAW89364;NP_003848;O43603 Hs.666366 GALNR2;MGC125983;MGC125984 GAL2-R;GALR-2;OTTHUMP00000236026;galanin receptor type 2 2289580;2289581;2289583 BW460_H;BW461_H;BW462_H APPROVED protein-coding ENSG00000182687 4133 04735 603691 REVIEWED 1351459 GALNTL5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 7 7 7 q36.1 146211050 146274586 + 151284444 151347945 + 151653464 151717019 + 6480464;6907045 18029348;15489334;14702039;12853948;12690205;12477932;9847074;16344560;22990118 168391 D3DX14;Q7Z4T8 AACC02000108;ABBA01035142;ABBA01035143;AC006017;AC074257;AC099345;AF440400;AF440404;AK093091;AK315667;AMYH01018148;AW103179;BC022021;BC025391;CH471173;DB022678;NM_145292;NR_033169 AAD45823;AAH22021;AAM20912;AAP97318;AAS07428;AAS07457;ABM81715;ABM84871;EAL24517;EAW53977;EAW53978;EAW53979;EAW53980;EAW53981;NP_660335;Q7Z4T8 Hs.647077 2143353;2152267;7185082 D7S1828;GDB:1317156 GALNACT19;GALNT15 OTTHUMP00000211936;OTTHUMP00000211942;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15;galNAc-T15;polypeptide GalNAc transferase 15;pp-GaNTase 15;protein-UDP acetylgalactosaminyltransferase 15;putative polypeptide N-acetylgalactosaminyltransferase-like protein 5 protein-coding ENSG00000106648 21725 13565 615133 VALIDATED 732024 GAMT guanidinoacetate N-methyltransferase The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012] 19 19 p13.3 1348088 1352552 - 1397025 1401569 - 1300048;1580863;1359082;1359081;1601275;6480464;6907045;7240710 12069495;15533043;8651275 21044950;9325156;8547310;19343046;19161160;19027335;17336114;17171576;16899382;15489334;15057824;12477932;10531498;9570966;9305847;23031365;10893433;19288536;21190923;22505724;21906983;21140503;20301745;21988832 2593 K7EM34;Q14353 ABBA01002641;ABBA01002642;AC005329;AF010246;AF010247;AF010248;AF086508;AF188893;AK289465;AK297487;AMYH01009247;BC016760;BC017936;BI914772;BM994704;BT007034;CH471139;NG_009785;NM_000156;NM_138924;Z49878 AAC27668;AAD04781;AAF01461;AAH16760;AAH17936;AAP35682;BAF82154;BAG59905;CAA90035;EAW69505;EAW69506;NP_000147;NP_620279;Q14353 Hs.81131 1684509;1703202;1736496;2107137 D15S702E;GAMT__6784;RH79693;SGC31985 CCDS2;PIG2;TP53I2 guanidinoacetate N-methyltransferase APPROVED protein-coding ENSG00000130005 4136 03142 601240;612736 REVIEWED 1625824 GAPDHL5 glyceraldehyde-3-phosphate dehydrogenase-like 5 6 6 6 q14.2 84535066 84536581 + 84158544 84160059 + 84101825 84103340 + 2793178 100093717 AL391416;NG_006133 pseudo 33506 1346878 GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 X X X p11.4 43783978 43784905 - 39531229 39531857 - 39646186 39647113 - 6542494;6096136 2616 ABBA01046907;AC091810;AMYH01022218;M26873;NG_001123;X01111 1702138;1791372;1791384;1791508;1791552;1791588;1792090;1792632;1794440;1795086;1795088 GDB:192506;PMC108311P2;PMC108957P1;PMC112330P1;PMC114947P1;PMC115884P2;PMC136694P1;PMC15575P1;PMC31284P2;PMC97302P2;PMC97327P1 GAPDHL2;GAPDL2;GAPDP1 pseudo 4159 INFERRED 1342916 GAPDHP14 glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 21 21 q22.11 15778031 15779243 + 30594575 30595787 + 10830953 54050 ABBA01057257;AF124730;AMYH01012188;NG_009356 GAPDP14 pseudo 4160 INFERRED 1354051 GAPDHP15 glyceraldehyde-3-phosphate dehydrogenase pseudogene 15 6 6 6 p11.2 1141386 1142638 - 58401923 58418818 - 58293686 58294938 - 642317 ABBA01018452;AL021368;AMYH01016375;NG_006993 1756389 SHGC-143356 GAPDH-Lp;GAPDP15;b55C20.4 pseudo 13950 INFERRED 1315126 GALT galactose-1-phosphate uridylyltransferase Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 9 9 p13 34636635 34640574 + 34646586 34650595 + 1580863;6480464;6907045;7240710 18210213;15749517;1897530;1427861;19224951;18454942;18089596;18029348;17876724;17486650;17303100;17143577;17041746;16595241;16507021;16416427;16274605;16189514;16125333;16009197;15841485;9012409;8956044;8943248;8892021;8869397;8741038;8598637;8551426;8499924;8198125;8112740;7957929;7887417;7887416;7671959;7550229;6095663;4759900;2840550;2233247;2011574;1610789;1373122;1301925;15506833;15489334;15308134;14707519;14702039;14614623;12869412;12851678;12606594;12521227;12477932;12370157;12119013;11936817;11919338;11704127;11678552;11511927;11479743;11181995;10884393;10439960;10424825;10408771;10220154;9632650;9222760;20151200;19646668;20008339;20237496;20547145;17207965;20734064;20800603;21059483;20301691;22944367;22963887;20222886;18956253;21188552;21906983;22798028;23022339;16344560;9472029;22749219 2592 B2RAT6;F2Z2X9;G3V223;G3V3U5;H0YJL3;Q53XK1 ABBA01065007;AI292159;AK096026;AK096137;AK293212;AK300070;AK303279;AK310049;AK314340;AL162231;AMYH01019340;BC015045;BI910081;BT009852;CH471071;DA011092;L46359;L46360;L46361;L46362;L46363;L46364;L46365;L46691;L46692;L46693;L46694;L46698;L46699;L46703;L46704;L46705;L46706;L46707;L46708;L46709;L46710;L46711;L46712;L46713;L46714;L46715;L46716;L46717;L46718;L46723;L48713;L48714;L48715;L48717;L48718;L48719;L48720;L48721;L48929;L48930;M60091;M96264;NG_009029;NM_000155;NM_001258332 AAA74450;AAA81539;AAA81540;AAA81541;AAA81542;AAA81543;AAA81544;AAA81545;AAA81546;AAA81547;AAA81548;AAA81549;AAA82086;AAA82088;AAB59578;AAB59584;AAB59585;AAB59586;AAB59587;AAB59588;AAB59589;AAB59590;AAB59591;AAB59592;AAB59593;AAB59594;AAB59595;AAB59596;AAB59597;AAB59598;AAB59599;AAB59600;AAB59601;AAB59602;AAB59603;AAB59604;AAB59605;AAB59606;AAB59607;AAB59608;AAB59609;AAC83409;AAH15045;AAP88854;ADQ32769;BAC04678;BAG36983;BAG53219;BAG56752;BAG61874;BAG64359;EAW58426;EAW58427;EAW58428;EAW58429;EAW58430;NP_000146;NP_001245261;P07902 Hs.522090 1666126 D9S1978 OTTHUMP00000021298;UDP-glucose--hexose-1-phosphate uridylyltransferase;gal-1-P uridylyltransferase;galactose-1-phosphate uridyl transferase;galactose-1-phosphate uridylyltransferase APPROVED protein-coding ENSG00000213930 4135 06106 230400;606999 REVIEWED 2881606 GAPDHP17 glyceraldehyde-3-phosphate dehydrogenase pseudogene 17 Y Y Y q11.221 7730216 7731378 + 21432653 21433815 + 23023265 23024427 + 12815422;9847074 360008 ABBA01057484;AC009494;NG_002925 5116302 sY2881 GAPDHP18 pseudo 37765 INFERRED 1351448 GAPDHP16 glyceraldehyde-3-phosphate dehydrogenase pseudogene 16 21 21 q11.2 1316358 1317535 + 16146624 16147801 + 387491 ABBA01057084;AF127936;AMYH01012140;NG_009468 GAPDP16 pseudo 23768 INFERRED 3341351 GAPDHP18 glyceraldehyde 3 phosphate dehydrogenase pseudogene 18 Y Y q11.223 7730216 7731378 + 23023265 23024427 + 12815422;9847074 340623 AC009494;NG_002923 pseudo 23948 1350609 GAPDHP2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 20 20 20 p12.1 13443402 13444590 + 13321229 13322421 + 13373261 13374534 + 170516 ABBA01053964;AL121782;AMYH01011723;NG_001038 GAPDP2;dJ585I14.1 pseudo 16577 INFERRED 3566505 GAPDHP19 glyceraldehyde 3 phosphate dehydrogenase pseudogene 19 Y Y Y q11.222 6282884 6284150 - 19948672 19950138 + 21489385 21490651 + 12815422 140028 ABBA01073747;AC010133;NG_002924 pseudo 23947 INFERRED 3498710 GAPDHP20 glyceraldehyde 3 phosphate dehydrogenase pseudogene 20 1 1 1 p35.1 31137970 31139253 - 32640303 32642909 - 32867494 32868784 - 343338 ABBA01023425;AL356986;AMYH01000467;NG_009347 pseudo 37772 INFERRED 3161436 GAPDHP22 glyceraldehyde 3 phosphate dehydrogenase pseudogene 22 13 13 q32.3 80686394 80686806 - 99842833 99843245 - 390421 ABBA01027127;AL391122;AMYH01005326;NG_011332 pseudo 37774 INFERRED 3277961 GAPDHP21 glyceraldehyde 3 phosphate dehydrogenase pseudogene 21 10 10 10 q21.1 50689753 50691034 - 57097107 57098116 - 57426896 57428180 - 389970 ABBA01019413;AC069545;AMYH01002759;NG_009342 pseudo 37773 INFERRED 3004820 GAPDHP23 glyceraldehyde 3 phosphate dehydrogenase pseudogene 23 1 1 1 p12 118235218 118236475 - 119806008 119807167 - 120004458 120005715 - 391075 ABBA01068514;AL359553;AMYH01000979;NG_009339 1773939 HSCZOG032 pseudo 37775 INFERRED 2975371 GAPDHP24 glyceraldehyde 3 phosphate dehydrogenase pseudogene 24 1 1 1 q41 188267873 188269142 + 213111106 213111869 + 215043899 215045269 + 391162 ABBA01048140;AC114496;AMYH01001723;NG_009350 pseudo 37776 INFERRED 3498012 GAPDHP26 glyceraldehyde 3 phosphate dehydrogenase pseudogene 26 9 9 9 q31.1 74251505 74252654 + 102777771 102778785 + 103737870 103739019 + 392374 ABBA01042882;AL357935;AMYH01021574;NG_009355 1692784;1787116 AL033751;SHGC-155171 pseudo 37778 INFERRED 2902773 GAPDHP27 glyceraldehyde 3 phosphate dehydrogenase pseudogene 27 1 1 1 p12 118331907 118333200 - 119902901 119903920 - 120101175 120102468 - 401960 ABBA01068514;AL109966;AL121995;AMYH01000979;NG_009337 pseudo 37779 INFERRED 2923521 GAPDHP25 glyceraldehyde 3 phosphate dehydrogenase pseudogene 25 2 2 2 p22.2 38353300 38354552 + 38365955 38367161 + 38512482 38513753 + 391367 ABBA01074991;AC016995;AMYH01010264;NG_006131 1794534 PMC316856P1 pseudo 37777 INFERRED 1317147 GAN gigaxonin This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008] 16 16 q24.1 79906076 79971441 + 81348571 81413803 + 1580863;6480464;7240710 12147674;16227972;16303566;19168853;18595793;17587580;17578852;17331252;17256086;17081983;15489334;14702039;12655563;12477932;11971098;11062483;9450783;15778465;21145461;19844255;20379614;15983046;20562859;20301315;22939624;21906983;19782434;23585478;19424503 8139 B3KTC3;Q9H2C0 ABBA01016966;AC009148;AC092139;AF291673;AK095378;AMYH01007849;BC016717;BC044840;CH471114;NG_009007;NM_022041 AAG35311;AAH44840;ADR82652;BAG53035;EAW95535;NP_071324;Q9H2C0 Hs.112569 1682277;1738699;1783352;2123454 D16S2809;D16S3282;RH65323;SHGC-145262 FLJ38059;GAN1;KLHL16 OTTHUMP00000174972;gigaxonin;kelch-like family member 16;kelch-like protein 16 APPROVED protein-coding ENSG00000127688 4137 05647 256850;605379 REVIEWED 2947210 GAPDHP30 glyceraldehyde 3 phosphate dehydrogenase pseudogene 30 8 8 8 q22.1 93267080 93268291 - 97150133 97195221 - 97080743 97081959 - 643228 ABBA01037490;AC007992;AMYH01018906;NG_009345 pseudo 37782 INFERRED 3457313 GAPDHP28 glyceraldehyde 3 phosphate dehydrogenase pseudogene 28 10 10 10 q23.32 87169980 87171251 - 93416517 93417519 - 93426338 93427609 - 441572 ABBA01021925;AL359986;AMYH01002944;NG_009344 pseudo 37780 INFERRED 3399172 GAPDHP29 glyceraldehyde 3 phosphate dehydrogenase pseudogene 29 1 1 1 p21.3 93021214 93022471 + 94540182 94541169 + 94767526 94768792 + 441893 ABBA01045512;AC097059;AMYH01000806;NG_009349 pseudo 37781 INFERRED 3516598 GAPDHP33 glyceraldehyde 3 phosphate dehydrogenase pseudogene 33 1 1 1 p12 118369323 118370608 - 119940110 119941351 - 120138588 120139873 - 644237 ABBA01068515;AL109966;AMYH01000979;NG_009336 2132573 AL009514 pseudo 37785 INFERRED 2923289 GAPDHP34 glyceraldehyde 3 phosphate dehydrogenase pseudogene 34 13 13 13 q13.3 18381389 18382271 + 36181666 36212907 + 37314178 37315060 + 646877 ABBA01021355;AL136160;AMYH01005038;NG_011461 1737335;1737421;1775997 D13S933;D13S994;SHGC-9194 pseudo 37786 INFERRED 2881248 GAPDHP35 glyceraldehyde 3 phosphate dehydrogenase pseudogene 35 16 16 16 p11.2 27030411 27031655 - 28158426 28159492 - 28250803 28252048 - 647001 ABBA01017173;AC136611;AMYH01007408;NG_009340 pseudo 37789 INFERRED 2837661 GAPDHP31 glyceraldehyde 3 phosphate dehydrogenase pseudogene 31 12 12 12 p13.31 9294380 9295660 + 7603689 7611245 + 7718894 7720185 + 643739 ABBA01012201;AC131206;AMYH01004214;NG_009353 pseudo 37783 INFERRED 3516599 GAPDHP32 glyceraldehyde 3 phosphate dehydrogenase pseudogene 32 1 1 1 p12 118306894 118308167 - 119877693 119881686 - 120076171 120077444 - 644213 ABBA01068514;AL121995;AMYH01000979;NG_011343 pseudo 37784 INFERRED 3277632 GAPDHP38 glyceraldehyde 3 phosphate dehydrogenase pseudogene 38 19 19 19 q13.32 43865334 43866617 + 51750862 51754739 + 47061817 47063108 + 729493 ABBA01040980;AC011551;AMYH01009867;NG_009334 pseudo 37792 INFERRED 3457159 GAPDHP39 glyceraldehyde 3 phosphate dehydrogenase pseudogene 39 3 3 3 q22.3 136923047 136924298 + 139976134 139980372 + 138496602 138497853 + 100128589 ABBA01059083;AC117389;AMYH01013531;NG_009351 pseudo 37796 INFERRED 1350162 GANC glucosidase, alpha; neutral C Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. [provided by RefSeq, Jul 2008] 15 15 q15.2 40353658 40433156 + 42566366 42645864 + 1300193;1580863;6480464;6907045 12370436 3099781;2829950;1736542;1704656;11530211;9109416;8673525;2649653;2542563;2541446;2187500;2825177;1678778;12560567;11752220;8794362;8794361;8416962;2959866;16547752;12719582;8218172;2355006;2283726;2136376;2076345;16381901;15489336;15489334;14702039;14675785;12477932;12434312;11076863;7030525;6995030;6994494;6369775;6362728;3135493;1352226;8093218;3264072;19588081;20800603;18215327;18314154;18330979;21906983 2595 E7EWB6;H3BMM3;H3BMW3;H3BN99;H3BPX5;H3BRQ6;H3BUE8;Q8TET4 ABBA01038378;ABBA01038379;AC012651;AC022468;AF525397;AF545045;AF545046;AK074037;AK074330;AK301467;AMYH01006580;AMYH01006581;BC059406;BC093833;BC112051;BE893238;BM999150;BQ000944;NM_198141 AAH59406;AAH93833;AAI12052;AAI51224;AAN74756;AAN74757;AAO14993;BAB84863;BAG62987;CAL37469;CAL38344;NP_937784;Q8TET4 Hs.730806 1644501;1669128;1678283;1736724;1736754;1736756;2142210;2180172 AFM196xb8;D15S744;D15S763;D15S764;RH39468;RH48768;RH68453;WI-17962 FLJ40082;MGC138256 OTTHUMP00000161054;neutral alpha-glucosidase C APPROVED protein-coding ENSG00000214013 4139 00077 104180 REVIEWED 3516427 GAPDHP40 glyceraldehyde 3 phosphate dehydrogenase pseudogene 40 5 5 5 q33.3 155408105 155409382 - 159309787 159315845 - 159377292 159378576 - 100131743 ABBA01044235;AC068657;AMYH01015758;NG_009333 2127160 D5S2442 pseudo 37797 INFERRED 3516597 GAPDHP37 glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 22 22 22 q13.2 24872963 24874196 - 39399242 39400472 - 41069293 41070526 - 651258 ABBA01055608;AMYH01012793;NG_006079;Z86090 2118598 KI-153 pseudo 37791 INFERRED 2837642 GAPDHP36 glyceraldehyde 3 phosphate dehydrogenase pseudogene 36 3 3 3 q26.33 178361864 178362887 + 181412993 181413614 + 179929978 179931001 + 647249 ABBA01058522;AC134503;AMYH01013691;NG_016486 1338069 D3S3603 pseudo 37790 INFERRED 3476330 GAPDHP41 glyceraldehyde 3 phosphate dehydrogenase pseudogene 41 6 6 6 p11.2 59622426 59623559 - 57794928 57864011 - 57686885 57688018 - 100131935 ABBA01039497;AL512427;AL590227;AMYH01016371;NG_007298 1696812;1756389 G49150;SHGC-143356 pseudo 37798 INFERRED 3418287 GAPDHP43 glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 15 15 q15.3 21536571 21537864 + 44646806 44648104 + 100240708 ABBA01039211;AC090519;AMYH01006610;NG_009331 pseudo 37800 INFERRED 3418286 GAPDHP44 glyceraldehyde 3 phosphate dehydrogenase pseudogene 44 12 12 q14.2 62817429 62818709 + 63148933 63150213 + 100240709 ABBA01026629;AC025264;AMYH01004539;NG_009335 1791846;1795102 PMC128021P1;PMC97911P1 pseudo 37801 INFERRED 3418288 GAPDHP42 glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 6 6 q13 70844096 70845351 + 70455692 70456947 + 100240707 ABBA01008895;AL590702;AMYH01016412;NG_009328;NG_016012 pseudo 37799 INFERRED 3418284 GAPDHP46 glyceraldehyde 3 phosphate dehydrogenase pseudogene 46 1 1 p22.1 90826633 90827826 - 92580196 92581389 - 100240711 ABBA01045554;AC104836;AMYH01000794;NG_009348 1692784 AL033751 pseudo 37804 INFERRED 3418283 GAPDHP47 glyceraldehyde 3 phosphate dehydrogenase pseudogene 47 3 3 q24 141644648 141645918 - 143221916 143223186 - 100240712 ABBA01059013;AC116423;AMYH01013554;NG_009352;NG_017077 pseudo 37803 INFERRED 3418285 GAPDHP45 glyceraldehyde 3 phosphate dehydrogenase pseudogene 45 10 10 p13 15063692 15064244 - 15135060 15135612 - 100240710 ABBA01034600;AL590365;AMYH01002055;NG_009343 pseudo 37802 INFERRED 3418282 GAPDHP48 glyceraldehyde 3 phosphate dehydrogenase pseudogene 48 2 2 p25.3 3744453 3745727 - 3735371 3736649 - 100240713 ABBA01006101;AC010907;AMYH01010074;NG_009354 pseudo 37805 INFERRED 4110229 GAPDHP50 glyceraldehyde 3 phosphate dehydrogenase pseudogene 50 3 3 89850678 89851665 - 89096595 89097582 - 100421236 ABBA01004641;AC106715;AMYH01013328;NG_025600 pseudo 38556 INFERRED 4110255 GAPDHP49 glyceraldehyde 3 phosphate dehydrogenase pseudogene 49 2 2 217136834 217137751 - 223368638 223369555 - 100421189 ABBA01023814;AC097461;AMYH01011516;NG_023664 1704240 SHGC-83242 pseudo 38555 INFERRED 1320293 GANAB glucosidase, alpha; neutral AB 11 11 q12.3 62148874 62170680 - 62392298 62414104 - 6480464;6907045 8910335;7788527;6342981;3881423;8093218;3264072;3099781;2829950;1736542;1704656;11530211;9109416;8673525;2649653;2542563;2541446;2187500;2825177;1678778;12560567;11752220;8794362;8794361;8416962;2959866;16547752;14667819;17353931;17672918;17081065;15489334;12477932;12133958;11564800;10929008;10921916;10764838;10764837;9148925;12719582;8218172;2355006;2283726;2136376;2076345;21319273;19737279;20562859;18303019;21252943;22863883;22939629;17314511;19135240;20811636;20000738;20360068;21081666;21642380;18781797;21987572;22079093;21139048;21890473;21906983;16009940;22586326;19805454;21150319;21963094;21988832;22304920;23000965;23349634;22053931;22190034;22268729;22505724 23193 E9PKU7;E9PNH1;E9PQ69;E9PRF8;F5H6X6;H0YFL4;Q14697;Q9BS14 AA618561;ABBA01003230;ABBA01003231;ABBA01003232;AF144074;AF460334;AJ000332;AK026548;AK026567;AK026997;AK295806;AK299819;AK302752;AK314370;AMYH01003690;AP001458;BC005405;BC017433;BC017435;BC034439;BC065266;BG720650;CH471076;D42041;DC400833;NM_001278192;NM_001278193;NM_001278194;NM_198334;NM_198335 AAF66685;AAH05405;AAH17433;AAH17435;AAH65266;AAM83349;BAA07642;BAG58624;BAG61688;BAG63965;CAA04006;EAW74045;EAW74046;EAW74047;EAW74048;EAW74049;EAW74050;NP_001265121;NP_001265122;NP_001265123;NP_938148;NP_938149;Q14697 Hs.595071 1665337;1686180;1689817;1773335;1773663;2135332;2176415;2189495 D8S1612;HSC1GE062;IB3108;MARC_7551-7552:992008484:1;RH12054;RH25316;RH80481;WI-15094 G2AN;GlULL;GluII;KIAA0088 OTTHUMP00000236516;OTTHUMP00000236517;OTTHUMP00000236518;alpha glucosidase II alpha subunit;alpha-glucosidase 2;glucosidase II subunit alpha;neutral alpha-glucosidase AB protein-coding ENSG00000089597 4138 03516 104160 VALIDATED 4110201 GAPDHP54 glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 20 20 42340100 42340866 + 45626350 45627116 + 100421319 ABBA01052688;AL121776;AMYH01011945;NG_025009 pseudo 38560 INFERRED 4110200 GAPDHP55 glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 15 15 21245206 21246008 + 44355709 44356511 + 100421324 ABBA01039217;AC090516;AMYH01006607;NG_025379 pseudo 38561 INFERRED 4110228 GAPDHP51 glyceraldehyde 3 phosphate dehydrogenase pseudogene 51 1 1 50459347 50460355 - 52172810 52173818 - 100421271 ABBA01074788;AL050343;AMYH01000617;NG_026939 pseudo 38557 INFERRED 4110203 GAPDHP53 glyceraldehyde 3 phosphate dehydrogenase pseudogene 53 20 20 24500362 24501264 + 24426048 24426950 + 100421318 ABBA01048737;AL034426;AMYH01011785;NG_025000 pseudo 38559 INFERRED 4110256 GAPDHP57 glyceraldehyde 3 phosphate dehydrogenase pseudogene 57 2 2 75514424 75515028 - 75683117 75683721 - 100421188 ABBA01075623;AC098581;AMYH01010456;NG_023572 pseudo 38563 INFERRED 1348689 GAPDHP59 glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 2 2 2 q32.1 181876368 181877197 + 187988402 187989431 + 188280258 188281087 + 2793178 645024 ABBA01062350;AC007319;AMYH01011340;NG_006132 GAPDHL3;GAPDL3 APPROVED pseudo 4152 INFERRED 4110230 GAPDHP56 glyceraldehyde 3 phosphate dehydrogenase pseudogene 56 4 4 128805572 128806547 - 131424521 131425496 - 100421232 ABBA01044841;AC092540;AMYH01014526;NG_025161 pseudo 38562 INFERRED 4110202 GAPDHP52 glyceraldehyde 3 phosphate dehydrogenase pseudogene 52 13 13 2994217 2995152 + 21932515 21933450 + 100421313 ABBA01068604;AL136219;AMYH01004957;NG_024895 pseudo 38558 INFERRED 1343589 GAPDHP58 glyceraldehyde 3 phosphate dehydrogenase pseudogene 58 1 1 1 p12 118269155 118270282 - 119839982 119840987 - 120038412 120039539 - 2793178 391077 ABBA01068514;AL121995;AMYH01000979;NG_009338 GAPDHL1;GAPDL1 APPROVED pseudo 4142 INFERRED 1353166 GAPDHP61 glyceraldehyde 3 phosphate dehydrogenase pseudogene 61 15 15 15 q22.31 41698504 41699775 - 62607919 62608923 - 64820661 64821939 - 2793178 729403 ABBA01038883;AC091231;AMYH01006711;NG_009327 1791508 PMC112330P1 GAPDHL6;GAPDL6 APPROVED pseudo 4155 INFERRED 1346156 GAPDHP64 glyceraldehyde-3-phosphate dehydrogenase pseudogene 64 1 1 1 p13.1 115484764 115486039 - 117057877 117059079 - 117256258 117257533 - 2793178 391069 ABBA01068494;AL356748;AMYH01000971;NG_006130 GAPDHL9;GAPDL9 APPROVED pseudo 4158 INFERRED 1346620 GAPDHP63 glyceraldehyde 3 phosphate dehydrogenase pseudogene 63 6 6 6 q14.1 81080504 81081779 - 80719387 80720446 - 80662519 80663799 - 2793178 442231 ABBA01040419;AL133475;AMYH01016459;NG_006998 1791532 PMC113938P1 GAPDHL8;GAPDL8 APPROVED pseudo 4157 INFERRED 1346814 GAPDHP66 glyceraldehyde-3-phosphate dehydrogenase pseudogene 66 18 18 18 p11.31 3861260 3862489 - 3967636 3968614 - 3977457 3978686 - 2793178 645256 ABBA01049866;AMYH01008782;AP005241;NG_007000 GAPDHL11;GAPDL11 APPROVED pseudo 4144 INFERRED 1345398 GAPDHP60 glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 4 4 4 q22.1 85417178 85418451 + 88347097 88348560 + 88128168 88129446 + 9847074;2793178 2601 ABBA01063526;AC092658;AMYH01014374;NG_003011 GAPDHL4;GAPDL4 APPROVED pseudo 4153 INFERRED 1353679 GAPDHP65 glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 X X X p11.3 50491024 50492020 - 46183994 46185190 - 46298951 46300220 - 2793178 389849 ABBA01052207;AL139811;AMYH01022249;NG_006129 1791372;1791384;1791508;1791552;1791588;1792090;1795088 PMC108311P2;PMC108957P1;PMC112330P1;PMC114947P1;PMC115884P2;PMC136694P1;PMC97327P1 GAPDHL10;GAPDL10 APPROVED pseudo 4143 INFERRED 1348918 GAPDHP69 glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 13 13 q12 10956757 10958024 + 29880844 29882111 + 2793178 2611 ABBA01035716;AL596092;AMYH01004997;NG_009332 GAPDHL14;GAPDL14 APPROVED pseudo 4147 INFERRED 1352447 GAPDHP71 glyceraldehyde-3-phosphate dehydrogenase pseudogene 71 5 5 5 q35.2 169973921 169975200 + 173872742 173874218 + 173940236 173941522 + 2613 ABBA01044013;AC108104;AC108112;AMYH01015832;NG_003027 1794542 PMC317006P1 GAPDHL16;GAPDL16 APPROVED pseudo 4149 INFERRED 730980 GAP43 growth associated protein 43 The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q13.1-q13.2 116825142 116922842 + 115342151 115440334 + 1580863;6480464;6484113 22138049;3272162;17619016;17577668;17412328;16381901;16344560;15694236;15489336;15489334;14702039;12898703;12805215;12704705;12477932;12105219;12034726;11978831;11528129;11256614;11238933;11076863;10544214;10521589;10391209;9881859;9774477;9742146;9618702;8900147;8746449;8737678;8694767;8231732;3272163;2140056;1828073;1533624;1281863;8872303;1385623;22209024;19593683;20379614;9139733;20869470;21152083;14978216;21769916;23000965;23153097;23396970 2596 P17677;Q5U058 ABBA01061623;ABBA01061624;ABBA01061625;AC012598;AC092468;AC119795;AF279774;AK123311;AK289699;AK290100;AK313658;AMYH01013404;AY842481;BC007936;BT019771;BT019810;BX648458;CH471052;DA701390;M25667;NM_001130064;NM_002045;S66533;S66534;X84309 AAA52516;AAB28649;AAH07936;AAV38576;AAV38613;AAV88094;ABM84170;ABM87573;BAF82388;BAF82789;BAG36412;CAA59050;CAL37637;CAL38386;EAW79594;NP_001123536;NP_002036;P17677 Hs.134974 1668081;1717419;1741431;1743227;1755833;1797564;2113748;2118707;2144742;2160430;2182574 G10622;GAP43;GAP43-3UUTF;GAP43_1989;GDB:181207;GDB:305514;RH122200;RH16452;SHGC-142675;WI-18969;WI-7159 B-50;PP46 OTTHUMP00000165225;OTTHUMP00000165226;axonal membrane protein GAP-43;calmodulin-binding protein P-57;growth-associated protein 43;nerve growth-related peptide GAP43;neural phosphoprotein B-50;neuromodulin;neuron growth-associated protein 43;protein F1 APPROVED protein-coding ENSG00000172020 4140 01198 162060 REVIEWED 1348752 GAPDHP73 glyceraldehyde-3-phosphate dehydrogenase pseudogene 73 6 6 6 q23.3 136680465 136681742 - 135981995 135983001 - 135940106 135941383 - 442262 ABBA01025838;ABBA01025839;AL035604;AMYH01016695;NG_007007 1724643 RH121322 GAPDHL19;GAPDL19 APPROVED pseudo 22956 INFERRED 1343600 GAPDHP67 glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 X X X q26.3 135520672 135521427 + 134987601 134988556 + 135160036 135160791 + 2793178 2609 ABBA01055860;AL732579;AMYH01023047;NG_006127 GAPDHL12;GAPDL12 APPROVED pseudo 4145 INFERRED 1352047 GAPDHP68 glyceraldehyde 3 phosphate dehydrogenase pseudogene 68 7 7 7 p21.3 9629943 9631221 + 9621134 9622140 + 9654538 9655816 + 2793178 100132601 AACC02000009;ABBA01056540;AC096553;AMYH01017067;CH236948;NG_009341 GAPDHL13;GAPDL13 APPROVED pseudo 4146 INFERRED 1349845 GAPDHP70 glyceraldehyde 3 phosphate dehydrogenase pseudogene 70 11 11 11 q14.2 86489649 86490961 + 87780994 87782038 - 88141142 88142458 - 2793178 642259 ABBA01011535;AMYH01003864;AP003120;NG_007004 GAPDHL15;GAPDL15 APPROVED pseudo 4148 INFERRED 1345775 GAPDHP72 glyceraldehyde-3-phosphate dehydrogenase pseudogene 72 6 6 6 q27 167217337 167218618 + 166397769 166399016 + 166477708 166478996 + 346085 ABBA01015077;AL627443;AMYH01016846;NG_009329 GAPDHL18;GAPDL18 APPROVED pseudo 22955 INFERRED 1351873 GAPDL2 glyceraldehyde-3-phosphate dehydrogenase-like 2 2599 X01111;XM_290433 4151 1343232 GAPDL17 glyceraldehyde-3-phosphate dehydrogenase-like 17 2614 4150 1354511 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008] 19 19 q13.12 40716154 40728061 + 36024314 36036221 + 1303348;737633;1358618;1580863;6480464;6907045 10714828;12477932;15507493 15057824;17353931;18298375;17192785;17047026;16832079;16700075;16324157;15489334;15342556;11330647;11225901;10655454;9264469;8125298;4349855;2793178;20534741;16820410;20880607;20828617;20833277;21269272;21832049;21995946;21628590;18654987;23026046 26330 K7EMB2;K7EP73;O14556 ABBA01018746;AC002389;AF216641;AJ005371;AK225727;AK314980;AMYH01009728;AY306129;BC036373;BP370184;NM_014364 AAB64181;AAF87970;AAH36373;AAQ75383;ABM81782;ABM84936;BAG37479;CAA06501;NP_055179;O14556 Hs.248017 GAPD2;GAPDH-2;GAPDS;HSD-35 glyceraldehyde-3-phosphate dehydrogenase, testis-specific;spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2;spermatogenic glyceraldehyde-3-phosphate dehydrogenase APPROVED protein-coding ENSG00000105679 24864 13566 609169 REVIEWED 1342843 GAREM GRB2 associated, regulator of MAPK1 This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 18 18 18 q12.1 26654417 26857408 - 28101461 28304445 - 29843484 30050447 - 737633;6480464 12477932 19509291;19240061;15951569;15592455;15489334;14702039;20379614;20936779 64762 J3QRF3;Q9H706 ABBA01022485;ABBA01022486;ABBA01022487;ABBA01022488;AC009835;AC015563;AC021224;AF086529;AI479499;AK025263;AK025660;AK297430;AL834491;AMYH01008928;AMYH01008929;BC005074;BC121067;BC121068;CH471088;NG_030329;NM_001242409;NM_022751 AAH05074;AAI21068;AAI21069;BAB15094;BAG59858;CAD39149;EAX01286;EAX01287;NP_001229338;NP_073588;Q9H706 Hs.444314 1336665;1661072;1681125;1734578;1764481;1779828;1789058;2122808;2153090;2181113;5106383;7186025 D18S457;D18S921E;D18S937E;G65665;SHGC-148085;SHGC-153799;SHGC-30861;SHGC-36802;SHGC-52747;WI-14403;WI-22103 C18orf11;FAM59A;Gm944 GRB2-associated and regulator of MAPK protein;GRB2-associated and regulator of MAPK1;Grb2-associated and regulator of Erk/MAPK;OTTHUMP00000163112;OTTHUMP00000163113;chromosome 18 open reading frame 11;family with sequence similarity 59, member A;protein FAM59A APPROVED protein-coding ENSG00000141441 26136 12685 REVIEWED 735871 GAPDH glyceraldehyde-3-phosphate dehydrogenase The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. Many pseudogenes similar to this locus are present in the human genome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 12 12 p13 6513918 6517797 + 6643585 6647537 + 1300048;1358618;1580863;2302795;2302804;2315975;2315979;6480464;6907045 15507493;15720133;8255543;18852331;12716756 20471030;15907785;15839736;15769908;15746184;15716040;15680915;15635413;15592455;15489334;15485821;15383276;15312048;15199064;15001839;14760703;14730345;14630908;14515148;12921788;12887926;12842822;12842090;12829261;12753082;12697324;12665801;12553051;12506084;12503091;12477932;12428732;12419855;12381782;12200519;12140138;12121569;12087577;12008025;11846445;11735259;11724794;11488911;11451542;11157717;11011077;10944468;10897012;10617673;10407144;10097256;9886087;9308888;9110174;8872471;3170585;7030790;17540579;19464723;19405953;19165527;19161537;18776667;18776186;18708368;18682386;18552833;18448829;18364388;18340469;18163542;17989880;17597534;17553795;17540725;17456004;17387692;17373842;17353931;17324518;17121833;17081983;17027006;17015754;16892178;16832079;16778134;16751257;16713569;16682416;16515701;16510976;16474839;16396496;16289162;16239728;16236267;16186172;16169070;16139273;16082386;16037232;15985219;15976103;15952740;3180054;22189680;8650074;8619474;8612237;8473906;8451199;8181459;8075252;7880402;7498159;6499844;6096821;6096136;6095107;3664468;3027061;2987855;2793178;2394733;1999197;1924305;1602151;1193541;957435;18206965;15479637;21236242;20610654;16501887;20177150;16055720;20707929;15604093;15628863;15951807;16799092;19001379;19430704;19605696;19621076;19650766;19747091;19800890;19837666;19874799;19940145;20181627;20381070;20664973;15107835;20407807;20800603;20864222;21073742;21338575;21336310;16815975;21145461;21319273;22847419;21163940;21832049;22939629;23027902;21182205;22863883;22990118;23086952;23409959;22789853;23091630;21539808;15161933;17955473;20972425;15047060;19135240;16196087;21749859;19156129;21151833;16027165;19380743;21853274;21895736;22053931;22174317;15852347;18624398;19596686;20849852;21900206;22079093;17620599;14741744;18781797;20639865;21979951;21987572;22178446;21139048;21890473;21906983;21963094;22963082;16492755;18362144;21044950;22534308;22613203;21110914;22350014;22536838;18029348;19338310;23332158;23402259;23428871;23455922;23463506;23750785;22505724;16263121;19738201;19805454;21080425;21565611;21988832;22304920;22623428;23000965;23237566;22957700;23077236;23106098 2597 E7EUT5;P04406 AB062273;ABBA01017643;AC006064;AF261085;AJ844644;AJ844645;AK026525;AK299448;AK308198;AMYH01004204;AY007133;AY340484;AY633612;BC001601;BC004109;BC009081;BC013310;BC020308;BC023632;BC025925;BC026907;BC029340;BC029618;BC083511;BG724119;BI463134;BT006893;BU155402;CH471116;CR407671;DQ403057;EF036498;HQ727992;J02642;J04038;M17851;M28283;M33197;M36164;NG_007073;NM_001256799;NM_002046;X01677;X53778 AAA52496;AAA52518;AAA52519;AAA53191;AAA86283;AAF99678;AAG01996;AAH01601;AAH04109;AAH09081;AAH13310;AAH23632;AAH25925;AAH26907;AAH29618;AAH83511;AAP35539;AAP88932;AAV33305;ABD77190;ABM82483;ABM85670;ABO65084;AET97565;BAB93466;BAG61421;CAA25833;CAA37794;CAG28599;CAH59755;CAH59756;EAW88786;EAW88787;NP_001243728;NP_002037;P04406 Hs.544577;Hs.592355;Hs.598320 1742893;1744003;1778706;1791302;1791372;1791384;1791448;1791508;1791532;1791552;1791588;1791746;1791952;1791954;1792002;1792088;1792090;1792104;1792404;1792632;1792818;1792826;1793598;1793716;1794440;1794542;1795030;1795074;1795086;1795088;5015933;5019341;5019343;5019345;5019347;5019349;5019359;5019361;5019365;5019369;5019375;5019381;5019383;5019385;5019387;5019397;5019403;5019407;5019409;5023515;5023527;5023533;5023551;5023553;5094638;5094642;5094644;5094672;5094676;5120768;5126813;5126823;5126829;5126837;5126847;5126849 D11S4602;GDB:214822;GDB:374186;GDB:376732;GDB:384767;PMC101742P3;PMC102046P1;PMC102105P1;PMC102181P3;PMC102702P1;PMC104479P2;PMC108311P2;PMC108957P1;PMC109593P1;PMC110706P2;PMC112330P1;PMC112647P2;PMC112724P1;PMC112827P1;PMC113938P1;PMC114947P1;PMC115884P2;PMC119909P1;PMC122568P2;PMC123051P1;PMC126184P3;PMC133713P1;PMC133907P5;PMC133907P6;PMC134726P2;PMC135988P15;PMC136639P1;PMC136694P1;PMC137086P1;PMC141140P1;PMC148872P2;PMC150665P1;PMC150720P4;PMC150799P1;PMC153210P3;PMC154635P1;PMC15575P1;PMC156124P4;PMC156256P2;PMC156747P1;PMC164778P1;PMC164841P2;PMC164857P1;PMC21468P1;PMC21573P1;PMC240675P1;PMC24576P1;PMC25103P1;PMC262654P1;PMC266773P1;PMC309667P2;PMC311067P7;PMC31284P2;PMC317006P1;PMC351321P5;PMC86881P1;PMC88550P1;PMC97138P1;PMC97302P2;PMC97327P1;PMC99947P2 G3PD;GAPD;MGC88685 OTTHUMP00000174430;OTTHUMP00000174431;OTTHUMP00000174432;OTTHUMP00000174434;aging-associated gene 9 protein;glyceraldehyde 3-phosphate dehydrogenase;glyceraldehyde-3-phosphate dehydrogenase;peptidyl-cysteine S-nitrosylase GAPDH APPROVED protein-coding ENSG00000111640 4141 00713 138400 REVIEWED 1350305 GAPDHP62 glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 8 8 8 q22.2 97748135 97749328 - 101631932 101638258 - 101562768 101563961 - 12477932;2793178 100128961 ABBA01037578;AMYH01018927;AP000424;BC009500;BC040702;NG_009346 Hs.700353 1773853;1773939;5019345;5019383;5094638;5126837 A005E22;HSCZOG032;PMC102181P3;PMC141140P1;PMC148872P2;PMC21573P1 GAPDHL7;GAPDL7 APPROVED pseudo 4156 INFERRED 1604723 GAPT GRB2-binding adaptor protein, transmembrane 5 5 5 q11.2 54725819 54730674 + 57823087 57827942 + 57787330 57792185 + 6480464 15489334;14702039;12477932 202309 D6RA63;D6RBK7;Q8N292 ABBA01015787;AC008814;AK090960;AMYH01015100;BC063534;CH471123;NM_152687 AAH63534;BAC03557;EAW54974;EAW54975;NP_689900;Q8N292 Hs.547697 C5orf29;FLJ33641;MGC70478 GRB2-binding transmembrane adaptor;OTTHUMP00000161880;OTTHUMP00000221542;OTTHUMP00000221543;growth factor receptor-bound protein 2-binding adapter protein, transmembrane;protein GAPT protein-coding 26588 08161 PROVISIONAL 1346418 GARNL3 GTPase activating Rap/RanGAP domain-like 3 9 9 9 q33.3 100681389 100810468 + 129066967 129195649 + 130026756 130155828 + 737633;6480464 12477932 16344560;14702039;11230166;18711365;20379614;23314748;23319000;22632162 84253 B7Z3Q6;C9J8L5;C9J9U0;C9JFS0;F2Z2Q8;F8WB68;Q5JS19;Q5VVW2 ABBA01043828;ABBA01043829;ABBA01043830;ABBA01043831;AK095679;AK126704;AK293732;AK294970;AK296246;AL136573;AL445222;AL450263;AL834149;AMYH01021725;BC034983;CH471090;DA183830;NM_032293 AAH34983;BAC04605;BAG57158;BAG58042;BAH12292;CAB66508;CAD38860;EAW87654;EAW87655;EAW87656;EAW87657;EAW87658;EAW87659;NP_115669;Q5VVW2 Hs.29304 1681929;1758683;1787006;5015619;5037552 D11S3114;D8S2279;SHGC-149157;SHGC-149389;SHGC-2346 DKFZp434O131;DKFZp761J1523;FLJ38360;RP11-356B19.1;bA356B19.1 GTPase activating RANGAP domain-like 3;GTPase-activating Rap/Ran-GAP domain-like protein 3;OTTHUMP00000022171;OTTHUMP00000211604 protein-coding ENSG00000136895 25425 13567 VALIDATED 1603263 GAREML GRB2 associated, regulator of MAPK1-like 2 2 2 p23.3 26236190 26252761 + 26248519 26266169 + 26395960 26412532 + 6480464 12477932;22558309;20682791 150946 Q75VX8 AA736392;AB015349;AB124552;ABBA01045176;ABBA01045177;AC011742;AK090454;AMYH01010189;AMYH01010190;AMYH01010191;CX759737;NM_001168241;NM_001191033 BAA88120;BAC03435;BAC99057;NP_001161713;NP_001177962;Q75VX8 Hs.187912 1769484;2119896;2134603;2191267;5037552 1910;A004O15;D8S2279;MARC_16909-16910:1022860919:1;WI-13615 FAM59B;FLJ00375;KIAA2038 GRB2-associated and regulator of MAPK protein-like;GRB2-associated and regulator of MAPK1-like;OTTHUMP00000200818;OTTHUMP00000200819;family with sequence similarity 59, member B;protein FAM59B APPROVED protein-coding ENSG00000157833 27172 VALIDATED 1606808 GAPVD1 GTPase activating protein and VPS9 domains 1 9 9 9 q33.3 98672084 98776400 + 127063932 127167111 + 128024111 128127290 + 6480464 10819331;16410077;17545148;15324660;15302935;14702039;12477932;8889548;7566098;22863883;22939629;20360068;21139048;21890473;21906983;22145905;19322201;22586326;18654987 26130 B0QZ65;B3KN67;B4DGD8;C9IZ08;C9IZX9;F8W9S7;H0Y4E7;H0Y7I9;Q8WU86 AA303338;AB040954;ABBA01043778;ABBA01043779;ABBA01043780;ABBA01043781;ABBA01043782;ABBA01043783;ABBA01043784;ABBA01043785;ABBA01043786;AK000126;AK021533;AK023841;AK027049;AK056493;AK096224;AK294542;AK296381;AL080196;AL354710;AL627223;AL834325;AMYH01021710;AMYH01021711;BC010027;BC013635;BC021119;BC110990;BC114937;BC114962;CB243670;CH471090;DQ233254;NM_015635 AAH13635;AAH21119;AAI14938;AAI14963;ABB71126;BAA90959;BAA96045;BAG51035;BAG51229;BAG53234;BAG57749;BAG59054;CAB45770;CAD38993;EAW87622;EAW87623;EAW87624;EAW87625;EAW87626;EAW87627;EAW87628;EAW87629;NP_056450;Q14C86 Hs.495134 1659849;1710910;1774158;2151146;2163844;2168155;5022200 A006S08;G29250;L18426;RH78630;SHGC-84077;STS-N33140;WI-11871 DKFZp434C212;GAPEX5;KIAA1521;MGC138847;MGC138848;RAP6 GAPex-5;GTPase-activating protein and VPS9 domain-containing protein 1;OTTHUMP00000022130;OTTHUMP00000196806;OTTHUMP00000215487;OTTHUMP00000215489;OTTHUMP00000215490;OTTHUMP00000215491;rab5-activating protein 6 protein-coding ENSG00000165219 23375 10886 611714 VALIDATED 1346713 GAR1 GAR1 ribonucleoprotein This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q25 110956115 110965342 + 110736666 110745893 + 1580863;6480464;6907045 11509230;21145461;8766832;18989882;17903301;15635413;15489334;15146197;15044956;12477932;12244096;11790298;11074001;10757788;7566098;1821816;19615732;19917616;20332099;18082603;22939629;19596686;20360068;19738201;23455922;21139048;21890473;22505724 54433 Q9NY12 AA311919;ABBA01063785;AC126283;AJ276003;AK310489;AMYH01014458;AY780787;BC003413;CH471057;CN428426;NM_018983;NM_032993 AAH03413;AAV98357;ABM85083;ABW03722;CAB76563;EAX06253;EAX06254;NP_061856;NP_127460;Q9NY12 Hs.69851 1774956;1853463;2159238 RH78325;SHGC-19824;SHGC-19829 NOLA1 GAR1 ribonucleoprotein homolog;H/ACA ribonucleoprotein complex subunit 1;OTTHUMP00000219723;OTTHUMP00000219724;OTTHUMP00000219725;nucleolar protein family A member 1;nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs);snoRNP protein GAR1 APPROVED protein-coding ENSG00000109534 14264 07569 606468 REVIEWED 1317311 GAS2L2 growth arrest-specific 2 like 2 The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011] 17 17 17 q12 30981675 30990035 - 31095650 31104010 - 34071530 34079897 - 1580863;6480464 22889411;12584248;8889548 246176 K7EIX8;Q8NHY3 ABBA01011234;AC006237;AF508784;AF508785;AMYH01008355;CB241159;CB306083;CH471147;NG_029638;NM_139285 AAI48637;AAM34264;AAM34265;EAW80131;NP_644814;Q8NHY3 Hs.591194 1700620 RH103932 GAR17 GAS2-like protein 2;GAS2-related protein on chromosome 17;OTTHUMP00000163888;growth arrest-specific protein 2-like 2 APPROVED protein-coding ENSG00000132139 24846 11000 611398 REVIEWED 1345993 GAS1 growth arrest-specific 1 Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] 9 9 q21.3-q22 88749098 88751924 - 89559277 89562104 - 1580863;5510025;6480464;6484113;6907045 20844013 8127893;19460624;18981472;18394855;17726382;16551639;12477932;11906213;11846389;11572986;10996315;9466658;8889548;8307588;7956349;1505026;15103018;20628624;11356029;19638344;20050020;20583177;21111449;21357679;15070677;22846196;21890473;23254899;21842183;21901158;19322201;21971401;22311470 2619 P54826 ABBA01016314;AL158149;AMYH01021477;BC074809;BC074908;BC132682;BC136586;BM661942;L13698;NG_032760;NM_002048 AAA72368;AAH74809;AAH74908;AAI32683;AAI36587;NP_002039;P54826 Hs.65029 2154101;2165107;5492683;5493465;5493749 STS-L13698;UniSTS:482018;UniSTS:486591;UniSTS:494527;WI-19256 GAS-1;Growth arrest-specific gene-1;OTTHUMP00000021599;growth arrest-specific protein 1 APPROVED protein-coding ENSG00000180447 4165 00747 139185 REVIEWED 6766444 GAS5-AS1 GAS5 antisense RNA 1 1 173832386 173833079 + 100506046 ABBA01027896;AF088026;AL136170;AMYH01001505;NR_037605 Hs.656411 1663269;1791400;2187512 PMC109273P2;SHGC-35933;STS-AA020818 APPROVED miscrna ENSG00000270084 44119 VALIDATED 1346877 GAS5 growth arrest-specific 5 (non-protein coding) 1 1 1 q25.1 146942508 146946594 - 172099662 172103748 - 173833039 173837125 - 1302234;6480464 9819378 18836484;18406879;12477932;21428924;20124551;23383264 60674 ABBA01027896;AF141346;AK025846;AL110141;AL136170;AMYH01001505;BC038733;BC070486;NR_002578 Hs.531856;Hs.736055 1656587;1663269;1791400;2187512;5015861;5015961;5016781;7185938 D10S16;D15S1477;PMC109273P2;RH35920;SHGC-35933;SHGC-67307;STS-AA020818 NCRNA00030;SNHG2 miscrna ENSG00000234741 16355 608280 PROVISIONAL 1348959 GAS2 growth arrest-specific 2 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009] 11 11 11 p14.3 22822041 22968405 + 22646230 22791123 + 22688160 22834547 + 1580863;6480464 20679491;9521882;1607387;16344560;15817486;15489334;15124103;12477932;11387205;11337467;10564664;3409319;1056466;21546767;20677014;21832049 2620 E9PM28;E9PQ37;E9PQ74;E9PRR5;O43903;Q7Z3X8 ABBA01061014;ABBA01061015;AC006299;AC103801;AI374985;AK313734;AMYH01003438;AU099094;BC005077;BC013326;BC040470;CH471064;CR450285;DA345287;NM_001143830;NM_005256;NM_177553;U95032 AAC52058;AAH05077;AAH13326;AAH40470;BAG36475;CAG29281;EAW68317;EAW68318;NP_001137302;NP_005247;NP_808221;O43903 Hs.741320 1713187;1737913;1751187;1751203;1795894;2124669 D11S3519;GAS2_660;RH121950;RH68529;SHGC-105084;SHGC-105087 MGC32610 GAS-2;OTTHUMP00000231848;OTTHUMP00000231850;OTTHUMP00000231853;growth arrest-specific protein 2 APPROVED protein-coding ENSG00000148935 4167 04158 602835 REVIEWED 7247504 GAS6-AS2 GAS6 antisense RNA 2 (head to head) 16344560 100506394 ABBA01015946;AI401581;AMYH01005406;BX072579;BX109451;CA454201;CD517640;DA663147;NG_029703;NR_044993 Hs.132168 miscrna 43694 VALIDATED 1315710 GAS2L3 growth arrest-specific 2 like 3 12 12 12 q23.1 100632831 100684032 + 99491620 99542821 + 100967489 101018690 + 1580863;6480464 15489334;14702039;12477932;21561867;19322201;23341777;22344256 283431 F8VSB7;G3V1N3;H0YIT6;Q86XJ1 ABBA01053252;AC010200;AC010209;AK095594;AK315189;AMYH01004697;BC043366;CH471054;NM_174942 AAH43366;BAG37629;BAG53091;EAW97641;EAW97642;EAW97643;EAW97644;NP_777602;Q86XJ1 Hs.20575 1656682;1702224 GDB:604488;RH44860 G2L3 GAS2-like protein 3;OTTHUMP00000243791;OTTHUMP00000243792;growth arrest-specific protein 2-like 3 protein-coding ENSG00000139354 27475 13568 PROVISIONAL 1317292 GARS glycyl-tRNA synthetase This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008] 7 7 p15 30600706 30640174 + 30634181 30673649 + 1298623;1580863;6480464;7240710 8595897 7753621;7961834;19329989;18275849;17595294;17545306;17544401;17142907;17101916;16534118;15489334;12853948;12690580;12690205;12477932;11829477;9524218;8872480;8816763;7962006;7539919;18029348;20877624;15452148;16169070;19710017;19412816;20301420;21145461;21319273;22345558;22863883;22268729;22505724;20360068;21139048;21890473;21906983;22079093;22144914;20301462;20301484;19805454;21963094;22939629;21988832;23000965;23279345 2617 F8WCK4;H7C443;P41250 AA772440;AACC02000087;ABBA01056813;AC004976;AC005154;AC006969;AK074524;AK295490;AK310351;AMYH01017151;BC000065;BC007722;BC007755;CH471073;D30658;NG_007942;NM_002047;U09510;U09587 AAA57001;AAA86443;AAC71652;AAH07722;AAH07755;AAS00367;ABM83699;ABM87020;BAA06338;BAG51964;BAG58412;EAL24449;EAW93960;EAW93961;NP_002038;P41250 Hs.404321 1335719;1649392;1735638;1769432;2144967;2169221;5017554;7183704 D7S1808;D7S2049E;D7S2836;D7S435;GARS;RH47185;RH47187;SHGC-31691 CMT2D;DSMAV;GlyRS;HMN5;SMAD1 AP-4-A synthetase;Charcot-Marie-Tooth neuropathy 2D;Charcot-Marie-Tooth neuropathy, neuronal type, D;OTTHUMP00000202329;diadenosine tetraphosphate synthetase;glycine tRNA ligase;glycine--tRNA ligase;glycyl-tRNA synthetase APPROVED protein-coding ENSG00000106105 4162 02617 600287;600794;601472 REVIEWED 1322543 GAS2L1 growth arrest-specific 2 like 1 This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Jul 2013] 22 22 22 q12.2 13502852 13508630 + 28032997 28038774 + 29702997 29708774 + 1580863;6480464 19375645;17081983;15489334;14702039;12584248;12477932;8975699;8125298;1607387;11799066;20537721;21044950;19531213 10634 A0A5E8;B5MCR7;C9JFI0;C9JRR6;E7EQM6;Q99501 ABBA01055261;AC002059;AK093386;AK122829;AK223602;AK225484;AK301715;AMYH01012695;BC001782;BC007624;BC011047;BI601743;BM144477;BM803267;CH471095;NG_032959;NM_001278730;NM_006478;NM_152236;NM_152237;Y07846;Y07848 AAH01782;AAH07624;AAH11047;BAC04150;BAD97322;BAG53749;BAG63186;CAA69174;CAA69176;EAW59788;EAW59789;EAW59790;EAW59791;EAW59792;EAW59793;EAW59794;EAW59795;NP_001265659;NP_006469;NP_689422;NP_689423;Q99501 Hs.322852 1771911;2115415;2157285 RH17231;RH70963;WI-20850 GAR22;MGC17243 GAS2-like protein 1;GAS2-related protein on chromosome 22;OTTHUMP00000199158;OTTHUMP00000199159;OTTHUMP00000199160;OTTHUMP00000199161;OTTHUMP00000199162;OTTHUMP00000241303;growth arrest-specific protein 2-like 1 APPROVED protein-coding 16955 03676 602128 REVIEWED 1318653 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 21 21 q22.11 33798139 33836286 - 34876238 34915198 - 1580863;1547842;5143983;6480464;6907045;7242561 12450384;9328467;22332074 2147474;2050105;17353931;18029348;19336370;19161160;18978678;17902044;17198385;16467096;16344560;16026156;15592455;15489334;12755606;12477932;10830953;9224613;8299947;6232198;2183217;20634891;1574589;19301155;19936946;20631005;21145461;22939629;16196087;22053931;22505724;22586326;18781797;21139048;21890473;21906983;21963094;21987572;19322201;22863883;19738201;21988832;22931243;23000965;23128233 2618 B4DJ93;C9JBJ1;C9JKQ7;C9JTV6;C9JZG2;F8WD69;H7C366;H7C489;H7C5I9;P22102;Q59HH3 AB208785;ABBA01057348;ABBA01057349;ABBA01057350;ABBA01057351;AF008653;AF008654;AF008655;AK292560;AK292897;AK295980;AMYH01012211;AP000302;AP000303;BC038958;BC068438;BC093641;BC101565;BC107712;BM172468;BQ010035;BQ477393;BX648124;CH471079;D32051;DB062974;DB236855;M32082;NG_029160;NM_000819;NM_001136005;NM_001136006;NM_175085;X54199 AAA60077;AAB70812;AAB70813;AAB71834;AAH38958;AAH93641;AAI01566;AAI07713;BAA06809;BAD92022;BAF85249;BAF85586;BAG58755;CAA38119;EAX09825;EAX09826;EAX09827;EAX09828;EAX09829;NP_000810;NP_001129477;NP_001129478;NP_780294;P22102 Hs.473648 1741773;1798400;1798524;1798972;1800738;1800914;1803936;1807954;1809556;1810478;1811218;1811444;1811698;1811930;1813082;1814608;1814986;1820776;1820982;1822234;1822886;1823510;1823930;1824790;1825344;1825432;1827140;1832910;1833124;1838740;1838742;1838810;1839458;1839720;1839722;1840000;1840152;1842644;1843530;1845694;1846002;1846022;1854662;2029012;2029014;2029016;2029018;2029020;2029022;2029024;2029026;2029028;2029030;2029032;2029034;2029036;2029038;2029040;2029042;2029044;2029046;2029048;2029050;2029052;2029054;2029056;2029058;2029060;2029062;2029064;2029066;2029068;2029070;2029072;2029074;2029076;2029078;2029080;2029082;2029084;2029086;2029088;2029090;2029092;2029094;2029096;2029098;2029100;2029102;2029104;2029106;2029108;2029110;2029112;2029114;2029116;2029118;2029120;2029122;2029124;2029126;2029128;2029130;2029132;2029134;2029136;2029138;2029140;2029142;2029144;2029146;2029148;2029150;2029152;2029154;2029156;2029158;2029160;2029162;2029164;2029166;2029168;2029170;2029172;2029174;2029176;2029178;2029180;2029182;2029184;2029186;2029188;2029190;2029192;2029194;2029196;2029198;2029200;2029202;2029204;2029206;2029208;2029210;2029212;2029214;2029216;2029218;2029220;2029222;2029224;2029226;2029228;2029230;2029232;2029234;2029236;2029238;2029240;2029242;2029244;2029246;2029248;2029250;2029252;2029254;2029256;2029258;2029260;2029262;2029264;2029266;2029268;2029270;2029272;2029274;2029276;2029278;2029280;2029282;2029284;2029286;2029288;2029290;2029292;2029294;2029296;2029298;2029300;2029302;2029304;2029306;2029308;2029310;2029312;2029314;2029316;2029318;2029320;2029322;2029324;2029326;2029328;2029330;2029332;2029334;2029336;2029338;2029340;2029342;2029344;2029346;2029348;2029350;2029352;2101314;2101316;2101318;2101320;2101322;2101324;2101326;2101328;2101330;2101332;2101334;2101336;2101338;2101340;2101342;2101344;2101346;2101348;2101350;2101352;2101354;2101356;2101358;2101360;2101362;2101364;2101366;2101368;2101370;2101372;2101374;2101376;2101378;2101380;2101382;2154744;2171826;5110823;5120043 D21S1825;ECD00036;ECD00100;ECD00328;ECD01230;ECD01322;ECD02882;ECD04952;ECD05770;ECD06232;ECD06607;ECD06721;ECD06853;ECD06969;ECD07560;ECD08334;ECD08524;ECD11463;ECD11567;ECD12203;ECD12531;ECD12846;ECD13060;ECD13493;ECD13778;ECD13823;ECD14685;ECD17596;ECD17704;ECD20548;ECD20549;ECD20584;ECD20911;ECD21043;ECD21044;ECD21184;ECD21260;ECD22529;ECD22974;ECD24065;ECD24221;ECD24231;GDB:185160;GDB:192321;REN85510;REN85511;REN85512;REN85513;REN85514;REN85515;REN85516;REN85517;REN85518;REN85519;REN85520;REN85521;REN85522;REN85523;REN85524;REN85525;REN85526;REN85527;REN85528;REN85529;REN85530;REN85531;REN85532;REN85533;REN85534;REN85535;REN85536;REN85537;REN85538;REN85539;REN85540;REN85541;REN85542;REN85543;REN85544;REN85545;REN85546;REN85547;REN85548;REN85549;REN85550;REN85551;REN85552;REN85553;REN85554;REN85555;REN85556;REN85557;REN85558;REN85559;REN85560;REN85561;REN85562;REN85563;REN85564;REN85565;REN85566;REN85567;REN85568;REN85569;REN85570;REN85571;REN85572;REN85573;REN85574;REN85575;REN85576;REN85577;REN85578;REN85579;REN85580;REN85581;REN85582;REN85583;REN85584;REN85585;REN85586;REN85587;REN85588;REN85589;REN85590;REN85591;REN85592;REN85593;REN85594;REN85595;REN85596;REN85597;REN85598;REN85599;REN85600;REN85601;REN85602;REN85603;REN85604;REN85605;REN85606;REN85607;REN85608;REN85609;REN85610;REN85611;REN85612;REN85613;REN85614;REN85615;REN85616;REN85617;REN85618;REN85619;REN85620;REN85621;REN85622;REN85623;REN85624;REN85625;REN85626;REN85627;REN85628;REN85629;REN85630;REN85631;REN85632;REN85633;REN85634;REN85635;REN85636;REN85637;REN85638;REN85639;REN85640;REN85641;REN85642;REN85643;REN85644;REN85645;REN85646;REN85647;REN85648;REN85649;REN85650;REN85651;REN85652;REN85653;REN85654;REN85655;REN85656;REN85657;REN85658;REN85659;REN85660;REN85661;REN85662;REN85663;REN85664;REN85665;REN85666;REN85667;REN85668;REN85669;REN85670;REN85671;REN85672;REN85673;REN85674;REN85675;REN85676;REN85677;REN85678;REN85679;REN85680;SHGC-87570;STS-D32051;WI-18814;stSG607218;stSG607219;stSG607220;stSG607221;stSG607222;stSG607223;stSG607224;stSG607225;stSG607226;stSG607227;stSG607228;stSG607229;stSG607230;stSG607231;stSG607232;stSG607233;stSG607234;stSG607235;stSG607236;stSG607237;stSG607238;stSG607239;stSG607240;stSG607241;stSG607242;stSG607243;stSG607244;stSG607245;stSG607246;stSG607247;stSG607248;stSG607250;stSG607251;stSG607252;stSG607253 AIRS;GARS;GARTF;MGC47764;PAIS;PGFT;PRGS OTTHUMP00000068280;OTTHUMP00000068281;OTTHUMP00000068282;OTTHUMP00000068333;OTTHUMP00000068337;OTTHUMP00000197910;trifunctional purine biosynthetic protein adenosine-3 APPROVED protein-coding ENSG00000159131 4163 00716 138440 REVIEWED 6483935 GAS6-AS1 GAS6 antisense RNA 1 13 q34 114518583 114545813 + 12477932;14702039;16344560 650669 AA971263;ABBA01015948;ABBA01015949;AK092862;AK123478;AMYH01005405;AMYH01005406;BC137379;BX072579;BX385300;DA460725;NR_044995 AAI37380 Hs.369201 FLJ35543;FLJ41484 APPROVED miscrna 39826 VALIDATED 736280 GAS6 growth arrest-specific 6 This gene product is a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation, and may play a role in thrombosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 13 13 q34 113546913 113590396 + 114523522 114567046 - 1579935;1579883;1579938;1580863;1579881;1579882;6480464 16374177;15108283;15619028;16285961;11290560 7854420;19369636;19132213;18840707;18760998;18680538;18570189;18395422;18174285;18172262;17897008;17721624;16999853;16723520;16556867;16362042;16344560;15958209;15605394;15507525;15489334;15452374;15130893;14750094;14702039;12768229;12764109;12490074;12477932;12218057;12029073;11175853;10954847;9367994;9326369;9326368;9259426;8939948;8637702;8621659;8604045;8595896;8336730;7867073;20664904;20088931;20417630;15184064;19567592;19657094;19696043;19744001;19888345;19922767;19965679;20048160;20103767;20126470;20546121;21343401;20922806;22516347;21067537;20504897;21638224;7634325;21501828;21278074;16359517;16564713;22833165;21139048;21959217;22072012;22363695;22763415;23341490;22914895;23567973;23570341;22907951;23209669 2621 J3KP07;Q14393 ABBA01015947;ABBA01015948;ABBA01015949;AK092028;AK122969;AK126533;AK290803;AK303145;AL833761;AMYH01005406;AY170372;AY256843;BC030708;BC038984;BK001240;BQ181504;BX072579;BX380508;CH471085;DB290970;EF631974;L13720;NG_029703;NM_000820;NM_001143945;NM_001143946 AAA58494;AAH38984;AAO41859;AAO84057;ABR09277;BAC86580;BAF83492;BAG52469;BAG53826;BAG64249;CAH56234;DAA01155;EAX09226;NP_000811;NP_001137417;NP_001137418;Q14393 Hs.646346 1789072;2111552;2159996;2182325 D13S1513;G65671;SHGC-31188;STS-L13720 AXLLG;AXSF;DKFZp666G247;FLJ34709 AXL receptor tyrosine kinase ligand;AXL stimulatory factor;GAS-6;OTTHUMP00000018777;growth arrest specific 6;growth arrest-specific protein 6 APPROVED protein-coding ENSG00000183087 4168 02705 600441 REVIEWED 1317230 GAS8 growth arrest-specific 8 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 75152846 75175909 + 88616509 88638880 + 90089008 90111379 + 1580863;6480464 17353931;9790751;10969087;17009870;15489334;12477932;11751847;19995461;20308539 2622 G3V1L5;H3BME0;H3BNL3;H3BP65;H3BQT7;H3BUA7;O95995 ABBA01014115;ABBA01014116;ABBA01014117;AC133919;AF050068;AF050069;AF050070;AF050071;AF050072;AF050073;AF050074;AF050075;AF050076;AF050077;AF050078;AF050079;AK293958;AK294050;AK297857;AK303505;AK304731;AK315261;AMYH01007941;BC036781;BC104785;BC112121;BX647947;CH471184;CR749499;DC371501;NM_001481;NR_023348 AAC69518;AAC69519;AAI04786;AAI12122;BAG37678;BAH11635;BAH11659;BAH12677;BAH13976;BAH14246;CAH18322;EAW66658;EAW66659;EAW66660;EAW66661;NP_001472;O95995 Hs.431792 1671958;1674111;2167918;2220596 RH48427;RH48729;SHGC-61195;UniSTS:485715 GAS11;MGC138326 GAS-11;GAS-8;OTTHUMP00000176848;growth arrest specific 11;growth arrest-specific 11;growth arrest-specific protein 11;growth arrest-specific protein 8 APPROVED protein-coding ENSG00000141013 4166 05533 605178 REVIEWED 735826 GAST gastrin Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq, Jul 2008] 17 17 q21 37122139 37125747 + 39868578 39872221 + 1580863;6480464 20932834;7488110;18609694;18473402;18438722;18234640;18057001;17922093;17889508;17698249;17604853;17559360;17332476;17258885;17064691;17006979;16638693;16574647;16547500;16341674;16228228;16174078;15949639;15682471;15655830;15533775;15489334;15040018;14729624;14719064;14660571;14627349;12612900;12477932;12174892;12006703;11710799;11278902;11181948;11054648;10771309;9855703;9797370;9645429;9369230;8504433;8244379;8244378;8240296;8055952;7530658;6689486;6574456;6324077;6322186;6087340;5921183;5822140;3034736;3011648;2736261;22037174;22112435;22593272;22366915;2730647;871064;463490;21274374;17229384;17207965;19031134;19166966;19674135;19731026;19794299;20145424;18577758;16754659;20395538;21175799;21195058;21111741;21029692;21186400;23121767;22110279;21222340;21509655;22532184 2520 AAB19304;P01350 ABBA01006455;ABBA01006456;AC109319;AC130686;AMYH01008387;BC069724;BC069762;BM768483;BM768762;CH471152;K01254;M15958;NG_009090;NM_000805;V00511;X00183 AAA52520;AAB19304;AAB59533;AAH69724;AAH69762;ADQ32945;CAA23769;CAA25005;CAA25006;CAA25007;EAW60756;NP_000796;P01350 Hs.2681 1741155;1790339;1853772 D17S2114;GAS;GDB:178387 GAS OTTHUMP00000164741;gastrin;preprogastrin APPROVED protein-coding ENSG00000184502 4164 00671 137250 REVIEWED 1349821 GAS7 growth arrest-specific 7 Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008] 17 17 p13.1 9754651 10042593 - 9813926 10101868 - 1302235;1580863;6480464 9736752 15948147;15489334;15342556;12477932;11795944;10706619;9455477;8125298;7626897;22570627;16713569;19801671;19851296;19861958;20198315;20379614;20936779;19913121;20628086;12957285;16055720;20890993;22662195;21452305;21988832;22496485 8522 B7Z1Q2;B7Z2L1;F5H2K0;F5H5N5;J3KS47;J3KTB1;J3KTJ0;J3KTK6;J3QLH8;J3QR80;J3QS26;O60861 AB007854;AB209030;ABBA01054967;ABBA01054968;ABBA01054969;ABBA01054970;ABBA01054971;ABBA01054972;ABBA01054973;AC000003;AC005747;AC026591;AC083783;AC107938;AJ224876;AK057761;AK225165;AK292987;AK293755;AK293834;AK294829;AK299574;AK307987;AK309722;AK315162;AMYH01008102;AMYH01008103;AMYH01008104;AMYH01008105;AY327406;BC001152;BC006454;BC113835;BP202727;BT006891;CH471108;NG_029502;NM_001130831;NM_003644;NM_201432;NM_201433 AAH01152;AAH06454;AAI13836;AAP35537;AAP92798;ABM83728;ABM86836;BAA23690;BAD92267;BAF85676;BAG37606;BAH11588;BAH11606;BAH11897;BAH13071;CAA12177;EAW90011;EAW90012;EAW90013;NP_001124303;NP_003635;NP_958836;NP_958839;O60861 Hs.462214 1335610;1335784;1647502;1653874;1656485;1690648;1712156;1733342;1752725;1758641;1774405;1776722;1777343;1792744;2111176;2129158;2154419;2156367;2160437;2161391;2165492;5022639;5118444;7183990;7184834;7186064 1604;AFMA070WD1;D11S2808;D11S3316;D17S1176;D17S2029;D17S2088;D17S2126;D17S804;D17S945;D17S961E;G54128;IB1318;NIB1921;PMC16012P1;RH12047;RH47234;RH65813;RH66481;SHGC-106570;SHGC-148988;SHGC-31752;WI-13490 KIAA0394;MGC1348;MLL/GAS7 GAS-7;MLL/GAS7 fusion protein;growth arrest-specific protein 7 APPROVED protein-coding ENSG00000007237 4169 16011 603127 REVIEWED 731384 GATA1 GATA binding protein 1 (globin transcription factor 1) This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008] X X p11.23 48529906 48537662 + 48644982 48652718 + 704404;1580863;6480464;7240710 22020876;16648487;16631833;16628190;16607277;16543218;16249385;16225938;16186125;16012335;15967790;15895080;15772651;15701726;15684376;15673499;15644435;15613485;15563463;15542823;15489334;15314183;15265794;15226423;15136229;15123623;14966463;14744791;14691578;14668799;14656875;14636651;14623254;14512321;12857954;12816863;12724402;12649131;12609092;12586620;12576332;12560215;12496368;12490288;12489695;12483298;12477932;12432220;12359731;12242665;12202480;12200364;12196550;12172547;12145700;12045236;11867225;11809723;2104960;2467208;2300555;18029348;19453261;19447160;19411634;19351817;19212333;19204726;19172521;19114560;19097174;19049973;18979367;18930124;18780834;18714007;18689547;18599389;18586828;18443038;18206727;18191920;18059480;17881640;17763153;17713552;17654061;17576817;17538848;17420275;17408401;17332341;17196618;17167422;17148589;16861236;16840187;11724781;11675338;11418466;10700180;10438528;10364157;9230307;8507862;7678994;7568177;1999341;12767938;16407974;12556498;12239153;11018012;15173587;22513796;20495378;20870473;20410505;16107690;17132730;18078130;18793746;19437340;19509292;19513100;19522008;19556247;19633202;19654328;19721012;19825991;19850750;19924028;19941826;19965638;20101202;20339093;9209374;20143233;20418238;20554972;20679399;20729467;21041734;20064153;20211142;20807505;20586925;21248262;21304100;21532337;20922527;21205752;21289305;20398657;21571218;15920471;21555453;19375645;21715302;23380710;21609963;21210118;22160620;23127762;21287369;21900206;21967505;22102271;22110660;22706301;22235304;22164220;20301538;21988832;22853316;22426104;23278136;22050843;8628290;23440243 2623 B7WNQ9;H7C2C0;P15976 ABBA01046061;ABBA01046062;AC231533;AF196971;AI057349;AMYH01022290;BC009797;CH471224;M30601;NG_008846;NM_002049;X17254 AAA35885;AAH09797;CAA35120;EAW50749;EAW50750;EAW50751;NP_002040;P15976 Hs.765 1769162;1793274;1797566;2112844;2112862;2153598;5112478;5117526 DXS9855;DXS9874;GATA1_1983;GDB:192497;GDB:574073;PMC20354P2;RH47645;STS-X17254 ERYF1;GATA-1;GF-1;GF1;NFE1;XLANP;XLTDA;XLTT GATA-binding factor 1;NF-E1 DNA-binding protein;OTTHUMP00000023259;OTTHUMP00000023260;erythroid transcription factor;erythroid transcription factor 1;gata binding protein 1;globin transcription factor 1;transcription factor GATA1 APPROVED protein-coding ENSG00000102145 4170 02372 190685;300367;300835;305371;314050 REVIEWED 7247008 GATA6-AS1 GATA6 antisense RNA 1 (head to head) 18 q11.2 19746859 19748929 - 16341674;23846333;14702039 100128893 ABBA01022667;AC091588;AK123079;AMYH01008880;NR_102763;XR_109470;XR_111780;XR_172237 Hs.514745 miscrna ENSG00000266010 48840 VALIDATED 1602401 GATA3-AS1 GATA3 antisense RNA 1 10 10 10 p14 8017805 8020839 - 8132419 8135453 - 8092413 8095447 - 12477932;21037568;19692168 399717 Q6ZQR6 ABBA01034729;AK128810;AL390294;AMYH01002015;AW611680;BC036297;BC128075;BC128097;BC141936;BC141937;NG_015859;NR_024255;NR_024256 BAC87617;Q6ZQR6 Hs.158992;Hs.568835;Hs.669736 1697152 RH102063 MGC165262 APPROVED miscrna ENSG00000197308 33786 13518 VALIDATED 734291 GATA2 GATA binding protein 2 This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 3 3 q21.3 129680960 129694718 - 128198265 128212030 - 704404;1580863;6480464;6484113;7240710 18250304;17654061;17347142;17095623;16960339;16934006;16672344;16607277;16344560;16153155;15837948;15673499;15659347;15632071;15489334;15328158;15254248;15001660;14702039;12750312;12646178;12483298;12477932;12432220;12406094;12145700;12073612;12045236;11964310;11787775;11567998;11278891;10938104;10873593;10731672;10411939;10367888;9517987;8972903;8504932;8078582;7876160;7568177;7541039;7519472;1714909;1563207;1370462;15016828;18029348;19453261;19304323;19212333;19168794;19097174;18849568;18720385;18550858;18452556;18308945;19913121;20628086;21738478;11877047;18078130;19198610;19522008;19528235;19684615;19706030;19714312;19772889;19860791;19864173;19885677;19941826;20363750;20634887;16396960;20211142;20838640;21297973;21670465;21765025;21571218;19242469;21666600;19323994;21892158;21816832;22996659;21808000;21892162;23327922;23365437;22649106;19322201;22021428;22271902;22147895;20963938;22541434;21904383;23322776;23560626;10364157;21988832;22814295;23502222;23365458;22942019;23028422;23223431;22284968;22786876;22865859 2624 C9J965;P23769 ABBA01020897;AC080005;AF169253;AI524325;AK127845;AK314826;AMYH01013463;BC002557;BC015577;BC015613;BC018988;BC051272;BC051342;BT006671;BX647499;CH471052;DA636256;DA837371;M68891;M77810;NG_029334;NM_001145661;NM_001145662;NM_032638 AAA35868;AAA35869;AAH02557;AAH15577;AAH15613;AAH18988;AAH51272;AAH51342;AAP35317;ABM83067;ABM86261;BAG37347;EAW79313;EAW79314;EAW79315;EAW79316;EAW79317;NP_001139133;NP_001139134;NP_116027;P23769 Hs.367725 1794806;1795896;2137137;2154871;5016763 D3S3103;GATA2_662;PMC58532P1;RH76244;SHGC-77315 DCML;FLJ45948;MGC2306;MONOMAC;NFE1B GATA-binding protein 2;OTTHUMP00000216238;OTTHUMP00000216239;OTTHUMP00000216240;endothelial transcription factor GATA-2 APPROVED protein-coding ENSG00000179348 4171 00673 137295;601626;614038;614172;614286 REVIEWED 737140 GATA4 GATA binding protein 4 This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects. [provided by RefSeq, Jul 2008] 8 8 p23.1-p22 11599162 11654918 + 11561717 11617509 + 1580390;704404;1580863;6480464;7240710;7207042;7207053;7207050 12845333;22293779;21059997;21373748 14612389;14583613;12907682;12775767;12606418;12606287;12530967;12530677;12477932;11994297;11724781;11585926;11481322;11297508;11158291;11003651;10948187;10790371;10728696;10446911;9927675;9568714;9312027;9207128;8978781;8455608;8007990;7791790;7721094;7665171;3413070;14578343;9858576;19666519;19479054;19353638;19302747;19276186;19018306;19008335;18672102;18653721;18426912;18405344;18076106;18055909;17912029;17805225;17643447;17592645;17584735;17548362;17403900;17352393;17290010;17253934;17211834;16823849;16607277;16604480;16470721;16341674;16337738;16159935;16137232;16110260;15810002;15666845;15653675;15585625;15542826;15389642;15337742;15235040;15153544;14984931;18227727;14702039;21330551;19913121;20585342;20592452;20628086;20654103;20807224;16556596;20554787;21060863;18983250;19353247;19509152;19543315;19649254;19678963;19781215;19915893;19918328;19995889;20041118;20081228;20133952;20201924;20206639;20222162;20363377;20450724;9566909;17848411;20347099;20211142;20595226;21055141;20659440;20931527;21464220;21220346;18252717;20874241;14988427;21110066;21519287;9857019;21609320;21276881;21673957;22018271;22043484;20833366;21184844;21874226;21637914;22192413;23215884;22011241;22648249;22101736;22215809;21631294;21815254;21834050;21933911;21945496;22500510;15485867;22472323;21708142;23029311;23138528;23320456;23049088;22773876;10801815;22552926 2626 B3KUF4;B6DU75;B7ZKZ4;E9PKS4;E9PRI5;P43694;R4GND5 ABBA01026877;AC069185;AC090790;AF180736;AF318320;AK097060;AMYH01018481;AMYH01018482;AY740706;BC033672;BC068079;BC101580;BC105108;BC143434;BC143479;BM560562;BM768332;CH471157;D78260;DR003768;L34357;NG_008177;NM_002052;U28835 AAA58496;AAA70335;AAI01581;AAI05109;AAI43435;AAI43480;AAL55827;AAW51922;BAA11334;BAG53416;EAW65620;EAW65621;NP_002043;P43694 Hs.243987 1681275;1754435;1758635;1786702;1795900;2132924;2143392;2169795;2172970 D8S2053;G17268;GATA4_664;RH11694;RH91374;SHGC-132501;SHGC-148974;SHGC-154552;SHGC-33472 ASD2;MGC126629;VSD1 GATA-binding factor 4;GATA-binding protein 4;OTTHUMP00000116010;OTTHUMP00000229495;transcription factor GATA-4 APPROVED protein-coding ENSG00000136574 4173 08994 600576;607941;614429;614430 REVIEWED 735650 GATA6 GATA binding protein 6 This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012] 18 18 q11.1-q11.2 18003414 18036225 + 19749404 19782491 + 704404;1580863;2314194;6480464;7240710 19842842 9315713;9294001;8125298;11375995;12944489;15016828;8975704;19666519;18769116;18535672;18454176;18405344;18227727;18177748;18078765;17785913;17626241;17403900;17390031;17070195;16968778;16607277;16159937;16150495;16137232;16110260;15913546;15831526;15666845;15388788;12959982;12909592;12867597;12679484;12615657;12606287;12530967;12530677;12477932;11733512;11724781;10851229;21811562;19913121;20581743;20628086;20628624;20631719;19497978;19581290;19597127;19628789;19649254;9566909;17848411;18671946;20826533;14988427;9593712;22672670;21071980;19760754;20694014;11889139;20864106;21076612;21127043;23020118;21514437;20081228;15146197;21629665;22407241;22824924;23175051;22257684;22158542;10608869;15173203;21928112;22375031;23313142;21988832;23275439;22504665;23223019;22962692;22750565;22806356 2627 Q53EU2;Q92908 ABBA01022667;AC091588;AK223547;AMYH01008880;AU309820;BC027891;CH471088;CN280495;D87811;EF444980;N91601;NG_032677;NM_005257;U66075;W19304;X95701 AAC50941;AAH27891;ACA05995;BAA22621;BAD97267;CAA64997;EAX01137;NP_005248;Q92908 Hs.514746;Hs.741506 1681722;1690750;1795902;5021890 GATA6_666;RH79922;RH91359;ha2207 ASD9;AVSD5;PACHD GATA-binding factor 6;GATA-binding protein 6;OTTHUMP00000162571;transcription factor GATA-6 APPROVED protein-coding ENSG00000141448 4174 09043 187500;217095;600001;601656;614474;614475 REVIEWED 6997497 GATM-AS1 GATM antisense RNA 1 5014051;5015619;5021872;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;sY3084 miscrna VALIDATED 1354270 GATA5 GATA binding protein 5 The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008] 20 20 q13.33 60471948 60484421 - 61038553 61051026 - 1580863;6480464 17912029;16823849;16337738;15585625;15489334;14715527;14612389;12477932;12011060;11780052;11408257;10567378;9566909;11375995;19509152;20222162;22625849;22641149;14986113;22028801;22483626;23175127;23289003 140628 D9ZGF7;Q9BWX5 ABBA01040084;AL499627;AMYH01012055;BC047790;BC117356;BC117358;CA443143;CH471077;HM015595;NM_080473 AAH47790;AAI17357;AAI17359;ADL14516;EAW75360;EAW75361;NP_536721;Q9BWX5 Hs.352250 1660467;1680278;1743385;1794546;2127639 GDB:315897;PMC317161P1;RH35919;RH94029;SHGC-35115 GATAS;bB379O24.1 GATA binding factor-5;GATA-binding factor 5;GATA-binding protein 5;OTTHUMP00000031490;transcription factor GATA-5 APPROVED protein-coding ENSG00000130700 15802 17029 611496 REVIEWED 733638 GATA3 GATA binding protein 3 This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009] 10 10 p15 8136673 8157170 + 8096667 8117164 + 704404;1358706;1580863;2314191;5128803;5128801;5128802;6480464;6484113;7240710 10935639;16336837;18186587;20118299;9949310 21638273;18533032;18410415;18268121;18212358;18154704;18079734;18037162;18006915;17845581;17703412;17658279;17654061;17616709;17390031;17381824;17357106;17277157;17272506;17234745;17210674;17117487;17114920;17111354;17078870;17075044;16912130;16509533;16498264;16381901;16357129;16317090;16087702;15947486;15826950;15699146;15637551;15632006;15489336;15489334;15361840;15328158;15251440;15087456;2050118;8088776;15016828;7592673;10037815;1871134;19473628;19342088;19261198;19258923;19253381;19248112;19247692;19232384;19189213;19094228;19092634;19084267;19082709;19057839;18849568;18826115;18772129;18701459;18676680;18607915;14985365;14757746;12960249;12477932;12217316;12087127;12057898;11970965;11937547;11724781;11389161;11076863;10212281;9819382;9020185;2017177;1827068;12767938;18445004;17628972;21114556;11256614;17057718;17074191;17114435;18619618;19043799;19059610;19170196;19336263;19346497;19411068;19483726;19549328;19559773;19625176;19639723;19674970;19692168;19723756;19735555;19798694;19805038;19946260;20154722;20189993;20237292;20237496;20503287;18260379;20130088;17445472;17445473;20660789;20368097;19728080;19719829;15975924;16922677;18029348;20211142;20716621;21037568;21048031;19615257;20696860;20333526;21120445;19248180;18338249;21289214;21329183;23354167;15563083;22607700;22706858;22909160;22985730;19452711;21157112;21242646;22391183;21334719;21399899;21611195;23063330;21682737;21468546;21878914;21930782;22039304;21761347;21743959;19861286;22951069;10364157;22951729;22019771;21892208;22120723;23395819;23266442;23172872;23203342;23291697;22336257;22982890 2625 P23771 ABBA01034729;AI024501;AI686327;AK298213;AL390294;AMYH01002015;AY497006;BC003070;BC006793;BC006839;BG287052;BM152193;CH471072;FB571433;FB571435;HI179114;HI179116;M69106;NG_015859;NM_001002295;NM_002051;X55037;X55122;X58072 AAA35870;AAH03070;AAH06793;AAR32096;BAG60483;CAA38877;CAA38916;CAA41102;CAL37449;CAL37566;CAR95134;CAR95135;CBX53865;CBX53866;EAW86367;EAW86368;NP_001002295;NP_002042;P23771 Hs.524134 1647443;1656553;1773276;1773278;1795898;2179244;2179246 A005A11;D10S2148;G20258;GATA3_1519;RH17471;RH78856;SHGC-34122 HDR;HDRS;MGC2346;MGC5199;MGC5445 GATA-binding factor 3;OTTHUMP00000019070;OTTHUMP00000019071;gata-binding protein 3;trans-acting T-cell-specific transcription factor GATA-3 APPROVED protein-coding ENSG00000107485 4172 00572 131320;146255 REVIEWED 6997503 GATM-AS1 GATM antisense RNA 1 15 q15.1 45670898 45672321 + 14702039;16344560 145663 AA741215;ABBA01039184;AC025580;AK056979;AMYH01006617;DA893697;DN994442;NR_033252 Hs.729565 miscrna 27073 VALIDATED 1605644 GATAD1 GATA zinc finger domain containing 1 The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 7 7 7 q21-q22 86781302 86793279 + 91914701 91926678 + 92076762 92089381 + 6480464 18391951;15146197;14702039;12690205;12477932;12062807;20546612;20211142;21965549;22318606;1538749;16344560;8401586 57798 Q8WUU5 AACC02000014;AB073650;ABBA01045803;AC000064;AC007566;AI352515;AI917195;AK026142;AK098014;AK315788;AL120665;AMYH01017691;BC019350;BC031091;BQ682550;BX098689;BX106375;CA848794;CH236949;CH471091;CK003484;CN264754;CN406304;CX759409;DA570882;DB257362;M78831;NG_032807;NM_021167;NR_052016 AAB46345;AAH19350;AAH31091;BAB15374;BAG38134;EAL24150;EAW76848;EAW76849;EAW76850;EAW76851;NP_066990;Q8WUU5 Hs.21145 1667289;1739351;1857268;2129919;2165014;2168416;5015619;5015879;5015961;5016478;5019070;5022578;5022588;5022651;5037552;5109281;5118576;7186122 D11S2921;D11S3114;D11S3430;D15S1477;D1S1423;D1S1425;D5S1597E;D7S2296E;D7S539E;D8S2279;G44334;GDB:314949;GDB:434012;RH68132;RH68599;RH69459;STS-W37495 CMD2B;FLJ22489;FLJ40695;ODAG;RG083M05.2 GATA zinc finger domain-containing protein 1;OTTHUMP00000161848;ocular development associated;ocular development-associated gene protein APPROVED protein-coding 29941 17656 614518;614672 REVIEWED 1605219 GATS GATS, stromal antigen 3 opposite strand 7 7 7 q22.1 94533628 94605191 - 99644497 99707549 - 99798276 99869855 - 6480464 16344560;14702039;12690205;12477932 352954 Q8NAP1;Q96NI1 AACC02000084;ABBA01013224;ABBA01013225;ABBA01013226;ABBA01013227;ABBA01013228;AC005071;AC073842;AK055399;AK056608;AK091418;AK092358;AK095056;AK124689;AK290039;AK290237;AK290510;AL831967;AMYH01017729;AMYH01017730;AMYH01017731;AMYH01017732;BC033723;BC044886;BC053367;BC065200;BC090867;BC100778;BC100779;BC100780;BC100781;BX420354;CH236956;CH471091;CR749506;CS300729;DA737015;H18847;NM_178831;NR_028038;NR_028039;NR_028040 AAH33723;AAH44886;AAH53367;AAH65200;AAH90867;BAB70916;BAC03870;BAF82728;BAF82926;BAF83199;BAG52355;BAG54069;CAH18327;CAK32393;EAL23844;EAL23845;EAW76562;EAW76563;EAW76564;EAW76565;NP_849153;Q8NAP1 Hs.556063 1651249;1662119;1675437;1677504;1685317;1786414;2119628;2141129;2141131;2147514;2147781;2172708;2180420;2180422;2218062;5019070;5022450;5022578;5037552;5492853 A002N20;A004W23;D10S275;D1S1423;D7S2074E;D8S2279;G44334;GDB:4585356;GDB:4585375;RH12482;RH47305;RH47646;RH80607;RH92424;RH94384;SHGC-172008;SHGC-5628;STAG3_3530;UniSTS:483034;WI-13802 DKFZp686B07267;STAG3OS OTTHUMP00000207678;STAG3 opposite strand transcript protein;opposite strand transcription unit to STAG3;putative protein GATS;stromal antigen 3 opposite strand protein-coding ENSG00000160844 29954 17030 VALIDATED 2306474 GATSL1 GATS protein-like 1 7 7 q11.23 73975505 74076739 + 74379083 74438803 + 6480464 12853948;21906983;12477932 389523 A6NNH0 ABBA01014634;ABBA01014635;ABBA01014636;ABBA01014637;AC004166;AC124781;AC245150;BC147030;BC147031;BC150658;DN831815;DR731193;NM_001145063 A6NNH0;AAI47031;AAI47032;AAI50659;NP_001138535 Hs.647048;Hs.647505 1655622;1673222;1676138;2145936 GDB:1234266;GDB:4585539;GDB:4585659;RH79612 GATS-like protein 1;OTTHUMP00000245962 protein-coding ENSG00000183086 37072 VALIDATED 1606925 GATC glutamyl-tRNA(Gln) amidotransferase, subunit C 12 12 12 q24.31 120518953 120536271 + 119368667 119382145 + 120884241 120901556 + 6480464 16541075;15489334;14702039;12477932;19805282;20877624;22939629 283459 F8VRU3;J3KMY1;O43716 ABBA01020121;AK094319;AL021546;AMYH01004801;BC034962;BC047778;BC064523;BC107145;BC107146;CH471054;NM_176818;NR_033684 AAI07146;AAI07147;BAG52859;EAW98193;NP_789788;O43716 Hs.706889 1685602;1687463;1711334;1746561;1847358;2108463;2127651;2176117;2176119;5015869;5021431;5022651 A002B13;Cda16c02;D11S2921;G19881;G64611;GDB:313261;L17702;RH44493;RH80576;SFRS9_8845;SHGC-84921;STS-W73277 15E1.2;FLJ37000;MGC129938 OTTHUMP00000045454;OTTHUMP00000240884;gatC-like protein;glu-AdT subunit C;glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial;glutamyl-tRNA(Gln) amidotransferase, subunit C homolog APPROVED protein-coding 25068 15934 VALIDATED 731936 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008] 15 15 q21.1 43440614 43458272 - 45653322 45670980 - 1599823;1300048;1599822;1580863;70746;6480464;6907045;7240710 2752493;2685430;8021264 9218780;19430482;17101918;16820567;16769397;16614068;15978539;15489334;14702039;12709373;12701824;12477932;12468279;12324495;11555793;9915841;9266688;9165070;9148748;8313955;8125298;3800397;10893433;20877624;20682460;20383146;23010440;20360068;20301745;21988832 2628 H0YKW9;H0YL75;H0YLC6;H0YMX4;H0YN43;P50440 ABBA01039184;ABBA01039185;AC025580;AK098055;AK098393;AK223585;AK294995;AK298350;AMYH01006617;BC004141;CD365153;CH471082;DB457418;NG_011674;NM_001482;S68805 AAB29892;AAH04141;BAD97305;BAG58060;BAG60595;EAW77306;EAW77307;EAW77308;NP_001473;P50440 Hs.75335 1644786;1670046;1685203;1776793 HSC2JH052;RH91509;SHGC-35470;STS-S68805 AGAT;AT;CCDS3 L-arginine:glycine amidinotransferase;OTTHUMP00000162120;glycine amidinotransferase, mitochondrial;transamidinase APPROVED protein-coding ENSG00000171766 4175 03838 602360;612718 REVIEWED 1603219 GATAD2A GATA zinc finger domain containing 2A 19 19 19 p13.11 19400702 19523801 + 19430401 19478789 + 19496642 19619741 + 6480464 15489334;16751776;12183469;18029348;16964243;16344560;14702039;12477932;8125298;22318606;16169070;16415179;20201926;16738318;19454010;22939629;19471022;21532573;21555454;21693764;21890473;21906983;21963094;19322201;23239876 54815 B4DKZ7;B5MC40;C9JGN4;C9JHD7;C9JJK9;C9JMI3;C9JVY3;F5H7D9;H7C3H1;Q86YP4 ABBA01051329;ABBA01051330;ABBA01051331;ABBA01051332;ABBA01051333;AC003030;AC011448;AC092067;AK000092;AK024670;AK125974;AK225198;AK296781;AK303482;AK315416;AL390164;AMYH01009608;AMYH01009609;AY186731;BC009034;BC011684;BC012902;BG773264;BU632713;CH471106;DB123918;DQ573509;NM_017660 AAH11684;AAH12902;AAO31797;ABZ92025;BAA90939;BAG59359;BAG64518;CAB99095;EAW84819;EAW84820;EAW84821;EAW84822;EAW84823;NP_060130;Q86YP4 Hs.118964 1658155;1770129;2136990;2175610;2180138 A003N27;D19S1121;D19S707E;RH66356;WI-15057 FLJ20085;FLJ21017;p66alpha GATA zinc finger domain-containing protein 2A;OTTHUMP00000201911;OTTHUMP00000201912;hp66alpha;p66 alpha;transcriptional repressor p66-alpha protein-coding ENSG00000167491 29989 11741 614997 PROVISIONAL 2306471 GATSL2 GATS protein-like 2 7 7 q11.23 74645541 74706426 - 74807605 74867341 - 6480464 12853948;12477932;9847074;21139048;21906983 729438 A6NHX0 AC004878;AC118138;AMYH01017552;DN831814;NM_001145064 A6NHX0;NP_001138536 Hs.647048;Hs.647505 1655622;1673222;2145936 GDB:1234266;GDB:4585539;GDB:4585659 GATS-like protein 2;OTTHUMP00000210486 protein-coding 37073 VALIDATED 1606527 GATAD2B GATA zinc finger domain containing 2B 1 1 1 q21.3 126848798 126967204 - 152043825 152162075 - 153777201 153895451 - 6480464 16415179;18505370;16964243;16710414;16344560;15489334;15302935;15231748;14702039;12477932;12183469;11756549;10574461;18029348;20185820;16738318;19394292;19454010;23022380;20127688;21139048;21532573;21555454;21890473;21252943;22939629;22903471 57459 Q8WXI9 AB032976;ABBA01049452;ABBA01049453;ABBA01049454;ABBA01049455;ABBA01049456;ABBA01049457;ABBA01049458;ABBA01049459;AF411836;AI701819;AK094665;AL358472;AL513523;AL592152;AL831737;AMYH01001406;AMYH01001407;AMYH01001408;BC069419;BC112052;BC112080;CH471121;DA161156;NM_020699 AAH69419;AAI12053;AAI12081;AAL39080;ABZ92028;BAA86464;BAG52906;EAW53270;NP_065750;Q8WXI9 Hs.4779;Hs.596854 1653907;1693284;1722571;2121918;2167004;2219426 AL009292;G31105;G42345;G60216;P66beta__5807;RH18505 FLJ37346;KIAA1150;MGC138257;MGC138285;MRD18;P66beta;RP11-216N14.6;p68 GATA zinc finger domain-containing protein 2B;OTTHUMP00000035272;p66/p68;transcription repressor p66 beta component of the MeCP1 complex;transcriptional repressor p66-beta protein-coding ENSG00000143614 30778 15094 614998;615074 VALIDATED 1353690 GBAP1 glucosidase, beta, acid pseudogene 1 1 1 1 q21 128256899 128270601 - 153450241 153454888 - 155183616 155197325 - 6480464 16344560;14702039;12477932;12180141;11381033;9331372;8751878;8294033;2914709;2295698;1698821;1572652;2438102;22797727 2630 ABBA01016712;AC217785;AF023268;AF267177;AK090514;AK295259;AK297653;AL713999;AMYH01001426;BC000349;BC030240;BC062626;BC092482;D13287;DB192327;J03060;M22213;NR_002188 BAG58248;BAG60020 Hs.719930 1767193;2107139;2155245;2191751 G06424;GBA__6791;MARC_6921-6922:996689842:1;RH69089 GBAP;MGC104662;MGC40022;MGC8614 APPROVED pseudo ENSG00000160766 4178 VALIDATED 2306475 GATSL3 GATS protein-like 3 22 22 22 q12 14480787 14485320 - 29011107 29015502 - 30681107 30685616 - 6480464 16344560;15998911;15790807;15489334;15461802;14702039;12477932;10591208 652968 B7WPJ3;F2Z2C1;F2Z3I9;F8WD52;H7C2U7;Q8WTX7 ABBA01055293;AC004997;AK055587;AK309436;AK310246;AMYH01012705;BC021927;CH471095;CR456449;DA343534;NM_001037666 AAC23432;AAC23433;AAH21927;BAB70963;CAG30335;CAK54431;CAK54730;EAW59867;EAW59868;EAW59869;EAW59870;NP_001032755;Q8WTX7 Hs.444950 1678285 RH11179 GATS-like protein 3;OTTHUMP00000198746;OTTHUMP00000198747 protein-coding ENSG00000239282 34423 VALIDATED 1319930 GBA3 glucosidase, beta, acid 3 The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013] 4 4 p15.2 22303688 22430290 + 22694548 22821192 + 1580863;6480464;6907045 11389701;18662675;17595169;17555766;15489334;15322500;12667141;12594539;12477932;11784319;11043382;8125298;8093218;3264072;3099781;2829950;1736542;1704656;11530211;9109416;8673525;2649653;2542563;2541446;2187500;12560567;2959866;16547752;12719582;8218172;2355006;2283726;2136376;2076345;20728381;21139048;21988832;3918500 57733 A8K9N1;B7Z536;Q9H227 AB017913;ABBA01032667;ABBA01032668;AC093917;AF317840;AF323990;AJ278964;AK222963;AK292746;AK298377;AK313189;AMYH01014056;BC029362;BC070188;BC101829;BC109377;BC136264;BP383134;CB163648;CH471069;NM_001128432;NM_001277225;NM_020973;NR_102355;NR_102356;NR_102357 AAG39217;AAH29362;AAH70188;AAI01830;AAI09378;AAI36265;AAL37305;BAB18741;BAD96683;BAF85435;BAG36006;BAH12772;CAC08178;EAW92802;EAW92803;NP_001121904;NP_001264154;NP_066024;Q9H227 Hs.653107 1644085;1654054;1686042;2110201;2123788 D4S1118;G33991;RH93679;SHGC-24823;stb328e24.p1 CBG;CBGL1;GLUC;KLrP;MGC104276;MGC126878 OTTHUMP00000218214;OTTHUMP00000218216;cytosolic beta-glucosidase;cytosolic beta-glucosidase-like protein 1;klotho-related protein APPROVED protein-coding ENSG00000249948 19069 09428 606619 REVIEWED 1313721 GBA2 glucosidase, beta (bile acid) 2 This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008] 9 9 p13.3 35726863 35739225 - 35736863 35749225 - 1580863;6480464 11489889;17105727;15489334;15164053;14702039;12477932;10997877;9111029;8093218;3264072;3099781;2829950;1736542;1704656;11530211;9109416;8673525;2649653;2542563;2541446;22659419;2187500;12560567;2959866;16547752;12719582;8218172;2355006;2283726;2136376;2076345;20427274;18829375;19933215;21832049;21724649;21837367;23073830;23250757;23332916;23332917 57704 F5H7P6;Q9HCG7 AB046825;ABBA01064987;AF258662;AJ309567;AK027884;AK057610;AK295967;AK297435;AL133410;AL834306;AMYH01019347;BC011363;CH471071;NM_020944 AAG44660;AAH11363;BAB13431;BAB55430;BAG59862;BAH12232;CAC83792;CAD38976;EAW58345;EAW58346;EAW58347;EAW58348;EAW58349;NP_065995;Q9HCG7 Hs.443134 1670551;1768836;2134503;2191095 MARC_14565-14566:1009474916:1;RH11800;WI-19282;WI-20292 AD035;DKFZp762K054;KIAA1605;MGC16895;SPG46 NLGase;OTTHUMP00000022759;OTTHUMP00000022760;beta-glucocerebrosidase 2;beta-glucosidase 2;bile acid beta-glucosidase;glucosylceramidase 2;non-lysosomal glucosylceramidase APPROVED protein-coding ENSG00000070610 18986 13569 609471;614409 REVIEWED 5128748 GBP1P1 guanylate binding protein 1, interferon-inducible pseudogene 1 1 1 p22.2 88118992 88136231 + 89873238 89890493 + 400759 ABBA01045587;AK309962;AL691464;AMYH01000777;NR_003133 Hs.661968 FLJ17004 pseudo ENSG00000225492 39561 VALIDATED 1607089 GBA glucosidase, beta, acid This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] 1 1 q21 153470867 153481112 - 155204239 155214653 - 5508431;5508423;5508435;5508424;5508426;5508429;5508434;5508422;5508425;5508427;5508433;6480464;6907045;7240710 21252206;21112800;11994410;20971030;20838799;19945510;15610510;21242499;20947659;20528910;16601670 18022370;19433657;19433656;19394250;19383421;19332698;19286695;19260119;19224617;18987351;18979180;18852351;18829375;18674488;18619939;18586596;18586535;18562733;18541113;18434642;18429048;18338393;18332251;18313951;18264947;18178337;18160183;18078074;18074383;18030725;17875915;17713797;17703984;17702778;17689991;17620502;17574891;17462935;17427031;17187079;16996765;16981045;16861620;16830265;16790605;16781064;16476943;16344560;16329099;16148263;16086325;7627184;7613473;6885065;6816512;6455062;6091633;4003396;3864160;3863141;3687939;3547401;3472750;3456607;3359914;3353383;3001061;2914709;2295698;1974409;1972019;1899336;1698821;1594045;15982918;15967693;15954102;15857183;15591280;15525722;15517592;15517591;15489334;15322500;15146461;14994233;14757764;14728994;12972024;12803123;12792654;12754519;12667141;12587096;12482401;12477932;12434014;12360744;12360742;12359135;12173027;12107439;12048121;11933202;11708865;11584048;10744424;10649495;10527671;10447266;10360404;10352942;10340647;10079102;9851895;9705233;9683600;9650766;9637431;9554746;9554454;9516376;9331372;9279145;9225972;9217217;9182788;9153297;9061570;9040001;8937765;8907609;8889591;8889578;8829663;8829654;8790604;8780099;8694790;8432537;8294033;8188616;8118460;8112750;8076951;7916532;7627192;1572652;16223608;22220748;22344629;19913121;20628086;20729108;20816920;17996473;19425057;19458969;19459886;19527940;19578116;19846850;19882201;20004703;20053430;20148966;20182943;20223112;20177787;20425034;21087600;20131388;20580583;20980263;20301446;20980259;20700730;21221911;21098288;19279008;19279011;22803570;23034917;21734182;22167193;22352271;21700325;23062841;23225227;21653695;22427207;21569768;21889374;21856586;20643691;21621439;21633851;21742527;21745757;21831682;22160715;22021190;21723784;2438102;19953087;22001711;22659419;22797727;22387070;23079555;22173904;22227325;22282650;22493294;21915911;22451204;20301387;20301402;21338444;22442429;22192918;21963094;23413260;22812582;23227814;23426826;21674799;23035075;22935721;22268729;22658918;23255161 2629 B7Z5G2;B7Z6S1;B7Z6S9;F5H241;J3KQG4;J3KQK9;P04062 ABBA01016711;AC217785;AF023268;AK291911;AK298900;AK300186;AK300829;AK300876;AK301374;AK301879;AK302000;AK311242;AK312502;AL547558;AL713999;AMYH01001427;AU122729;AU131071;AU140959;AU141794;BC003356;BI458641;BX382279;BX477204;BX648487;CH471121;D13286;DC297079;J03059;K02920;M16328;M18916;M18917;M19285;M20248;M20282;M22212;NG_009783;NM_000157;NM_001005741;NM_001005742;NM_001171811;NM_001171812 AAA35873;AAA35874;AAA35875;AAA35876;AAA35877;AAA35878;AAA35879;AAA35880;AAC51820;AAC63056;AAH03356;BAA02545;BAF84600;BAG35404;BAH12898;BAH13232;BAH13357;BAH13365;BAH13467;BAH13574;BAH13605;EAW53100;EAW53101;EAW53102;EAW53103;NP_000148;NP_001005741;NP_001005742;NP_001165282;NP_001165283;P04062 Hs.282997 1688088;1693192;1743623;1767193;1772020;1772022;1850167;2107139;2155245;2191751;5016572 AL034327;D1S3500;G06424;GBA__6791;GDB:361159;GDB:607681;MARC_6921-6922:996689842:1;RH69089;RH71037;RH71038;humgcb1 GBA1;GCB;GLUC D-glucosyl-N-acylsphingosine glucohydrolase;OTTHUMP00000033992;OTTHUMP00000033993;acid beta-glucosidase;alglucerase;beta-glucocerebrosidase;glucosylceramidase;imiglucerase;lysosomal glucocerebrosidase APPROVED protein-coding ENSG00000177628 4177 06973 127750;168600;230800;230900;231000;231005;606463;608013 REVIEWED 1345241 GBAS glioblastoma amplified sequence This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 7 7 7 p12 67085720 67121305 + 55999790 56035365 + 56032270 56067875 + 1580863;6480464 9615231;19169841;16381901;15489336;15489334;14702039;12477932;11076863;9661659;21145461;11256614;19615732;20888800;20562859;20877624;14676191;18457437;21890473 2631 C9J7B1;C9K068;F8WBI5;H7C333;O75323 ABBA01061843;AC092579;AF029786;AJ001259;AK097049;AK125036;AK315648;AMYH01017277;BC000732;BC001837;BC030821;BT007112;BU753659;CH471140;CR407612;CX166452;NM_001202469;NM_001483 AAC29002;AAH00732;AAH01837;AAH30821;AAP35776;ABM83235;ABM86434;CAA04633;CAG28540;CAL37716;EAX07966;EAX07967;NP_001189398;NP_001474;O75323 Hs.591069 1660331;1666082;1672265;1712258;1768147;2161939 D7S2116E;D7S2765;G54037;RH66175;SHGC-17265;WI-20833 NIPSNAP2 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2;OTTHUMP00000159734;OTTHUMP00000209309;glioblastoma-amplified sequence;protein NipSnap homolog 2 APPROVED protein-coding ENSG00000146729 4179 04302 603004 REVIEWED 1320598 GBE1 glucan (1,4-alpha-), branching enzyme 1 The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008] 3 3 p12.3 81621541 81893640 - 81538850 81810950 - 1580863;1601279;1642743;6480464;6907045;7240710 8613547;6449198 18289670;17994551;17915577;16254601;15592455;15489334;15452297;15019703;14702039;14557872;12477932;10762170;10545044;10533307;10384399;9851430;8463281;8059607;6220706;19913121;20628086;16169070;20379614;20300197;20800603;20816195;22939629;21252943;23034915;22943850;18392749;22305237;21139048;21890473;21906983;20301758;19322201;21988832;23000965;23285490;22797925 2632 E9PGM4;Q04446;Q59ET0 AB209731;ABBA01031050;ABBA01031051;ABBA01031052;ABBA01031053;AC017015;AC025029;AC099049;AK125918;AK297939;AK300620;AK312245;AMYH01013306;BC012098;BE614098;BM509929;BQ022720;BQ632568;CH471110;L07956;NG_011810;NM_000158 AAA58642;AAH12098;ABW03793;BAD92968;BAG54265;BAG60255;BAG62313;EAW68879;EAW68880;NP_000149;Q04446 Hs.436062 1650260;1735102;1743087;1754043;1768135;1776365;1777522;2125385;2152239;2154184 Bdy18e01;D3S2780E;G16592;GDB:251825;RH36490;RH45132;RH69848;SHGC-12433;SHGC-132085;WI-4729 APBD;GBE;GSD4 1,4-alpha-glucan-branching enzyme;OTTHUMP00000213788;OTTHUMP00000213833;amylo-(1,4 to 1,6) transglucosidase;amylo-(1,4 to 1,6) transglycosylase;brancher enzyme;glycogen branching enzyme;glycogen-branching enzyme 2315897 GLUCO187_H APPROVED protein-coding ENSG00000114480 4180 01985 232500;263570;607839 REVIEWED 1351614 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 This gene encodes a member of the histo-blood group ABO gene family that encodes glycosyltransferases with related but distinct substrate specificity. This protein plays a role in synthesizing Forssman glycolipid (FG), a member of the globoseries glycolipid family. Human cells do not normally produce FG but produce the precursor glycolipids globotriaosylceramide and globoside. This protein may be involved in the tropism and binding of pathogenic organisms. [provided by RefSeq, Jul 2008] 9 9 9 q34.13-q34.3 106570015 106580979 - 135018161 135029122 - 136028340 136039301 - 1580863;6480464;6907045 10506200;15489334;15164053;14702039;12975309;12477932;12107410;8855242;20800603;23255552 26301 B7Z8S5;J7Q0Z1;Q5T7U8;Q5T7V0;Q8N5D6 ABBA01032469;ABBA01032470;AK074639;AK074944;AK291498;AK303825;AK307687;AK314097;AL162417;AMYH01021798;AY358175;BC032499;CA397865;CH471090;DQ145941;HE583599;NM_021996 AAH32499;AAQ88542;AAZ38721;BAC11106;BAF84187;BAG36792;BAH14061;CCD30590;EAW88043;EAW88044;EAW88045;EAW88046;EAW88047;NP_068836;Q8N5D6 Hs.495419 1298236;1738239 D9S1198;D9S2157 A3GALNT;FS;MGC44848;RP11-326L24.6;UNQ2513 Forssman glycolipid synthetase (FS);Forssman synthetase;OTTHUMP00000022446;OTTHUMP00000022447;OTTHUMP00000022448;forssman glycolipid synthase-like protein;globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 APPROVED protein-coding ENSG00000148288 20460 16193 606074 VALIDATED 1321567 GBP4 guanylate binding protein 4 Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008] 1 1 1 p22.2 87892646 87910446 - 89420044 89437150 - 89646831 89664633 - 1580863;6480464 16689661;16108726;12477932;9659399;20237496;20379614 115361 Q96PP9 ABBA01045588;AC104459;AF288814;AK131094;AK304245;AK312417;AL832576;AMYH01000777;BC008421;BC017889;BC050625;BC070055;CA309701;CH471097;NM_052941 AAH17889;AAH70055;AAL02054;BAC85144;BAG35327;BAG65113;CAD89936;EAW73142;EAW73143;EAW73144;NP_443173;Q96PP9 Hs.409925 1691958;1715755;1749881;1853567;2175076;5014051;5015619;5020229;5021872;5022651;5037552 AL009524;AL033631;D11S2921;D11S3114;D8S2278;D8S2279;L17770;RH119325;SHGC-111607;SHGC-75091;sY3084 Mpa2 GBP-4;GTP-binding protein 4;OTTHUMP00000012394;guanine nucleotide-binding protein 4;guanylate-binding protein 4 APPROVED protein-coding ENSG00000162654 20480 13570 612466 VALIDATED 1323562 GBP1 guanylate binding protein 1, interferon-inducible Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. [provided by RefSeq, Jul 2008] 1 1 p22.2 89290593 89303479 - 89517987 89531043 - 1580863;6480464 1715024;19463820;19150356;19079332;18697840;18697200;18260761;16936281;16894355;16873363;16511497;16005050;15937107;15504415;15489334;14741045;12881412;12766061;12543931;12488461;12477932;12414522;11598000;11397834;10676968;10383748;8830800;7518790;20450919;19223260;19604093;20237496;20483731;20454519;20923658;16712791;21151871;22863883;22939629;23042300;20716116;22266860;22162832;21714544;22059445;16009940;22607347;22859948;22692453;23086406 2633 P32455 AB208912;ABBA01045589;AK291783;AK298032;AK303893;AL160008;AMYH01000777;AY920436;BC002666;BF058809;BT006847;CB164272;CD676970;CH471097;M55542;NM_002053 AAA35871;AAH02666;AAP35493;AAX13805;ABM81685;ABM84850;BAD92149;BAF84472;BAG60334;BAG64827;EAW73148;EAW73149;EAW73150;NP_002044;P32455 Hs.62661 1848555;1852361 SHGC-12771;SHGC-30461 GBP-1;GTP-binding protein 1;OTTHUMP00000012352;guanine nucleotide-binding protein 1;guanylate binding protein 1, interferon-inducible, 67kDa;huGBP-1;interferon-induced guanylate-binding protein 1 APPROVED protein-coding ENSG00000117228 4182 02681 600411 VALIDATED 736152 GBP2 guanylate binding protein 2, interferon-inducible This gene belongs to the guanine-binding protein (GBP) family, which includes interferon-induced proteins that can bind to guanine nucleotides (GMP, GDP and GTP). The encoded protein is a GTPase which hydrolyzes GTP, predominantly to GDP. The protein may play a role as a marker of squamous cell carcinomas. [provided by RefSeq, Jul 2013] 1 1 p22.2 89345898 89364387 - 89573310 89591799 - 1580863;6480464 1715024;19003964;17517895;14702039;12477932;12447867;12107410;11096456;8723115;8706832;8125298;16169070;20237496;19912588;20923658;22863883;21151871;21900206;16344560;22970192;23086406;22864358 2634 P32456;Q8TCE5 ABBA01045589;AC104459;AI085798;AI400402;AI445567;AK002150;AK057968;AK122866;AK226018;AK314325;AMYH01000777;BC022272;BC073163;BM993865;CA390345;CH471097;CR457062;DB229415;DB274428;M55543;NM_004120 AAA67323;AAH22272;AAH73163;BAG36973;CAG33343;EAW73146;NP_004111;P32456 Hs.386567;Hs.732899;Hs.734162 1720519;1797568;2129293;2142498 G59213;GBP2_2313;SHGC-75111;WI-9135 DKFZp451C2311 GBP-2;GTP-binding protein 2;OTTHUMP00000012392;OTTHUMP00000012393;guanine nucleotide-binding protein 2;huGBP-2;interferon-induced guanylate-binding protein 2 APPROVED protein-coding ENSG00000162645 4183 02682 600412 REVIEWED 1352199 GBX1 gastrulation brain homeobox 1 7 7 7 q36.1 145403014 145422208 - 150476609 150495800 - 150845676 150864867 - 1580863 16597639;12853948;8097731;7903253 2636 G3V1W9;Q14549 AACC02000108;ABBA01035163;AC010973;AMYH01018144;L11239;NM_001098834;X59519 AAA36002;AAI60003;NP_001092304;Q14549 Hs.647114 1667501;1716279 GDB:1318236;RH121168 OTTHUMP00000213380;gastrulation and brain-specific homeobox protein 1;gastrulation brain homeo box 1;homeobox protein GBX-1 protein-coding ENSG00000164900 4185 603354 PROVISIONAL 1349801 GBP3 guanylate binding protein 3 This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. [provided by RefSeq, Jul 2008] 1 1 1 p22.2 87718156 87734345 - 89244948 89261137 - 89472360 89488549 - 6480464 16710414;15489334;14702039;12477932;12387898;8889548;7518790;20237496;22106366 2635 F6SPX6;F6X827;H3BNS1;H3BP53;H3BPH2;H3BRX6;Q5T8M0;Q6P3V3 ABBA01045589;AK001823;AK309096;AL136680;AL139416;AL160008;AMYH01000777;BC017992;BC063819;BC140837;BC144650;BU678920;CH471097;CR936755;CR936758;JF927951;NM_018284 AAH17992;AAI40838;ACE86932;ACE86938;ACE87619;ACE87626;AEI54565;CAB66615;EAW73151;EAW73152;EAW73153;NP_060754;Q9H0R5 Hs.720167 1760373;2108111;5094886 GBP1;GBP3_8366;SHGC-142092 DKFZp686E0974;DKFZp686L15228;FLJ10961 GBP-3;GTP-binding protein 3;OTTHUMP00000012353;OTTHUMP00000012354;OTTHUMP00000012355;OTTHUMP00000194787;guanine nucleotide-binding protein 3;guanylate-binding protein 3;guanylate-binding protein 3 delta C APPROVED protein-coding ENSG00000117226 4184 02683 600413 REVIEWED 1601687 GBP7 guanylate binding protein 7 Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] 1 1 1 p22.2 87843240 87887538 - 89370022 89414311 - 89597434 89641723 - 6480464 16689661;14702039;20459687 388646 Q8N8V2 ABBA01045588;AC104459;AK096141;AMYH01000777;CH471097;NM_207398 AAI56124;AAI57016;BAC04709;EAW73145;NP_997281;Q8N8V2 Hs.591450 1645643;2171322 AL010053;D1S3150 FLJ38822;GBP4L GBP-7;GTP-binding protein 7;OTTHUMP00000012389;guanine nucleotide-binding protein 7;guanylate-binding protein 4-like;guanylate-binding protein 7 APPROVED protein-coding ENSG00000213512 29606 13432 612468 VALIDATED 1316187 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 10 10 q24 103995299 104132639 + 104005255 104142656 + 1580863;6480464;6484113 10402461;17353931;16956762;11031247;19023417;18799457;18551169;18524849;18287014;18084281;18063581;18003980;17956946;17666033;17429068;17329336;17079330;16926190;16565220;16318580;15813748;15616190;15489334;15324660;15302935;15164054;12646181;12634853;12477932;12168954;12047556;9828135;9039502;11252894;16385451;19039328;19740986;19773279;19906930;20164217;20175751;20379614;20854417;20530568;20562859;19913121;20628086;16344560;20497182;20504936;23383273;22863883;21789191;21909260;21722633;21139048;21890473;21906983;22185782;22359663;22360420;18029348;21963094;23000965;23386609;22573891 8729 Q149P0;Q149P1;Q92538 ABBA01063161;ABBA01063162;ABBA01063163;ABBA01063164;AF068755;AI859700;AK024916;AK025153;AK025330;AL121928;AL160011;AL356420;AMYH01003017;BC007941;BC014171;BC032543;BC094763;BC117681;BC117682;CH471066;D87435;DA176540;DA772398;NM_001199378;NM_001199379;NM_004193 AAD15903;AAH07941;AAH14171;AAH32543;AAH94763;AAI17682;AAI17683;BAA13379;EAW49707;NP_001186307;NP_001186308;NP_004184;Q92538 Hs.290243 1670680;1675154;1684278;1687115;1855112;2107141;2121780;2142089;2149691 AFM183xb12;AFMa301wf1;GBF1__6792;RH44262;RH44724;RH44977;RH45663;RH80701;RH80779 ARF1GEF;FLJ21263;FLJ21500;KIAA0248;MGC134877;MGC134878 BFA-resistant GEF 1;Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1;OTTHUMP00000020365;golgi-specific brefeldin A resistance factor 1;golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1;golgi-specific brefeldin A-resistance factor 1 APPROVED protein-coding ENSG00000107862 4181 04740 603698 REVIEWED 1342777 GCATP1 glycine C-acetyltransferase pseudogene 1 14 14 14 q23.2 44111229 44112703 - 63130224 63131848 - 64060570 64062044 - 319140 ABBA01018330;AL136038;AMYH01005793;NG_002517 2145268 SHGC-30609 GCATP APPROVED pseudo 20013 INFERRED 1322285 GBP5 guanylate binding protein 5 1 1 1 p22.2 87970432 87984342 - 89498853 89511119 - 89724633 89738544 - 1580863;6480464 22461501;18260761;17266443;16189514;15489334;15175044;14996095;12975309;12477932;20180847;20237496;21151871 115362 E7ETN8;Q96PP8 ABBA01045588;AC099063;AF288815;AF328727;AF430642;AF430643;AK090479;AK315064;AL832285;AMYH01000777;AY358953;BC031639;BC033761;CD367361;CH471097;NM_001134486;NM_052942 AAH31639;AAH33761;AAL02055;AAN39035;AAN39036;AAO40731;AAQ89312;ABM86576;ABW03667;BAC03460;BAG37538;EAW73141;NP_001127958;NP_443174;Q96PP8 Hs.513726 2171450 SHGC-75115 GBP-5 GBP-TA antigen;GTP-binding protein 5;OTTHUMP00000011691;OTTHUMP00000011818;guanine nucleotide-binding protein 5;guanylate-binding protein 5 protein-coding ENSG00000154451 19895 13571 611467 VALIDATED 1348762 GBX2 gastrulation brain homeobox 2 2 2 2 q37.2 230787441 230789786 - 236739046 236741391 - 237074307 237076652 - 1334477;1334478;1580863;6480464 9346236;8838315 17060451;15931389;15815621;10690529;9537237;7903253;12477932;20237496 2637 F8VY47;P52951 ABBA01042571;AC079135;AF118452;AMYH01011594;BC137448;BC137449;BF115559;CH471063;NM_001485;U02080;U31468 AAA17406;AAC03241;AAD39907;AAI37449;AAI37450;AAX93240;EAW71084;NP_001476;P52951 Hs.184945 2141331;2218542 GBX2_4093;RH65560 OTTHUMP00000164400;gastrulation and brain-specific homeobox protein 2;gastrulation brain homeo box 2;homeobox protein GBX-2 protein-coding 4186 03087 601135 VALIDATED 1354251 GBP6 guanylate binding protein family, member 6 Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008] 1 1 1 p22.2 88075199 88099482 + 89602024 89626307 + 89829436 89853719 + 6480464 16381901;16344560;15489336;14702039;11256614;11230166;11076863;12477932;16689661;20237496;20423481 163351 F5H7G9;Q6ZN66 ABBA01045587;ABBA01045588;AI199897;AK096454;AK131329;AK131356;AK290303;AK299408;AK299466;AK303987;AK315834;AL691464;AMYH01000777;BC131713;BX537949;BX647907;CH471097;DA437660;DA447005;NM_198460 AAI31714;AAI46700;BAD18489;BAD18509;BAF82992;BAF98725;BAG61390;BAG61432;BAG64904;CAD97917;CAL37463;EAW73139;NP_940862;Q6ZN66 Hs.254338 1695964;1763685 SHGC-147364;SHGC-78924 DKFZp686G0786;FLJ39135 GBP-6;GTP-binding protein 6;OTTHUMP00000011819;guanine nucleotide-binding protein 6;guanylate-binding protein 6 APPROVED protein-coding 25395 13572 612467 VALIDATED 1345642 GCF1 growth control factor 1 2640 4190 736902 GC group-specific component (vitamin D binding protein) The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 4 4 q12-q13 72826274 72868752 - 72607410 72671237 - 1331525;1580863;2315537;2315540;2315548;2315558;5509870;5509873;5509874;5509882;5509883;5129516;5509886;1625796;5509922;5509866;5509919;5509920;5509921;5509923;5509933;5509934;5509918;5509885;5509929;5509931;2316214;5509868;5509869;5509872;5509887;5509932;6480464;7240710 15118671;3948765;3838933;16080911;11239517;19845402;21136918;18334925;17929958;16868893;12096683;12050214;11239198;19324981;21832969;21683810;21169467;20054029;18807170;2737695;2883392;21844150;12137326;11521994;9548303;15509515;21416056;20093204;19000909;12044990;9517617 18038108;21357399;12119014;1696927;14718574;19559392;19479237;19453261;19302999;19263529;19255064;19131662;19116321;18768522;18686987;18676680;18593774;18559548;18374965;18303991;8381387;8325650;8324227;8125298;7759070;7725672;7703225;7606167;7505619;7026425;4054306;3936035;3552627;3015768;2958390;2824652;2423133;2416779;2415977;2415926;1602151;1535333;1374401;1352271;558959;218624;16169070;18029348;17785430;17763400;17763397;17763387;17428459;17342072;17244366;17113648;16684836;16648359;16600026;16400520;16309986;16269129;16115686;15866120;15717311;15648851;15607028;15485893;15230135;15115254;15059409;14987123;14718422;14523999;12968673;12947140;12942785;12938159;12580408;12554937;12477932;12452439;12189808;12062854;12051678;12048248;11799400;11785295;11757623;11717447;11436564;8786133;8495753;19913121;20536507;20588308;20628086;20654748;20812960;20819447;19170196;19625176;19692168;19729601;19852851;20079467;20086113;20418485;20424473;20541252;9821970;19797128;15583024;15951480;20733087;20809279;20847308;20363324;22576297;22610885;22801813;20562129;22771520;23027064;23190755;23070913;23468552;23409077;21810276;21416506;18624398;21042807;21684333;22887780;22986152;22158084;22232734;22673963;21988832;23213074;21440908;21972121;22296203;22292037;22144504;23312379;22785457;23185470;23191998;23180681;22916037;22704802 2638 D6RBJ7;D6RF20;D6RF35;P02774 AA702473;ABBA01022972;AC024722;AK223458;AK290827;AK298433;AK309595;AK312971;AK315853;AMYH01014289;BC022310;BC057228;BX494962;CH471057;L10641;M17156;NG_012837;NM_000583;NM_001204306;NM_001204307;S54074;S67480;S77129;S77130;X03178 AAA19662;AAA61704;AAB29423;AAD13872;AAD14249;AAD14250;AAH57228;BAD97178;BAF83516;BAF98744;BAG60654;CAA26938;EAX05645;NP_000574;NP_001191235;NP_001191236;P02774 Hs.418497 1341684;1674773;1682341;1742357;1794030;1794034;1794036;2116509;2128981;2134061;2143942;2187239 D4S2389;GDB:196472;PMC310762P2;PMC310762P4;PMC310762P5;RH68432;SHGC-24721;SHGC-33816;SHGC-50400;SHGC-59541;SHGC-67593;SHGC4-18 DBP;DBP/GC;GRD3;VDBG;VDBP OTTHUMP00000160364;OTTHUMP00000218973;OTTHUMP00000218974;OTTHUMP00000218975;VDB;gc-globulin;vitamin D-binding alpha-globulin;vitamin D-binding protein APPROVED protein-coding ENSG00000145321 4187 00749 139200 REVIEWED 1316396 GCAT glycine C-acetyltransferase The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010] 22 22 22 q13.1 22005704 22014976 + 36533901 36542850 + 38203912 38213183 + 1580863;6480464;6907045 10712613;15489334;12477932;12174908;10591208;3536927;21145461;15342556;20877624;22797925 23464 A8K228;C9IZC9;F2Z340;H7BZ75;O75600 ABBA01055488;AF077740;AK123190;AK290093;AMYH01012757;BC014457;BP309052;CH471095;NM_001171690;NM_014291;Z97630 AAC27720;AAH14457;BAC85552;BAF82782;EAW60189;EAW60190;NP_001165161;NP_055106;O75600 Hs.54609 1658023;2110445;2128201;2149861;2185040;5015619 D11S3114;G29683;G31469;H1F0__7560;RH17516;STS-W90034 KBL;MGC23053 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial;2-amino-3-ketobutyrate-CoA ligase;AKB ligase;OTTHUMP00000198188;OTTHUMP00000198189;aminoacetone synthase;glycine acetyltransferase APPROVED protein-coding ENSG00000100116 4188 07602 607422 REVIEWED 1315291 GCA grancalcin, EF-hand calcium binding protein This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of proteins which includes sorcin, calpain, and ALG-2. Grancalcin localization is dependent upon calcium and magnesium. In the absence of divalent cation, grancalcin localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions, suggesting a role for grancalcin in granule-membrane fusion and degranulation. [provided by RefSeq, Jul 2008] 2 2 q24.2 162908896 162925875 + 163200583 163219149 + 1580863;6480464 1530588;19156166;18285833;18071670;16713569;15815621;15489334;12804766;12477932;11717497;11279160;10903868;9441591;1737748;20237496;17207965;18029348;20800603;23255161;19322201 25801 C9JIZ3;C9JV47;C9JWQ8;H7BXD5;H7C2Z6;P28676 AB209768;ABBA01004893;AC010876;AK295413;AK312349;AMYH01011214;BC005214;BQ005142;CH471058;M81637;NM_012198 AAA58498;AAH05214;AAX93138;ADQ32845;BAD93005;BAG35270;BAH12058;EAX11350;EAX11351;NP_036330;P28676 Hs.377894 1730107;2107143;2121578;2128721;2144376 D2S1927E;D2S2559;GCA__6795;RH1483;RH36533 GCL OTTHUMP00000162937;OTTHUMP00000204639;OTTHUMP00000204640;grancalcin;grancalcin, EF-hand calcium-binding protein;grancalcin, penta-EF-hand protein APPROVED protein-coding 15990 06122 607030 VALIDATED 1352654 GCC1 GRIP and coiled-coil domain containing 1 The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008] 7 7 7 q32.1 122024410 122029382 - 127007918 127012890 - 127220682 127225654 - 1580863;6480464 16189514;17914056;16713569;15654769;15489334;14702039;12690205;12477932;12446665;10209125;12972563;18029348;21832049;22939629;22558309;21139048;22158537 79571 A4D0Z4;Q96CN9 AACC02000001;ABBA01057684;AC000357;AF525417;AK025688;AK092878;AK315472;AL832833;AMYH01017911;BC008902;BC014100;BC078665;CH236947;CH471070;NM_024523 AAH08902;AAH14100;AAH78665;AAM91948;ADZ15539;BAB15218;BAG37858;BAG52618;EAL24321;EAW83628;EAW83629;NP_078799;Q96CN9 Hs.521168 1768981;1771973;1799990;1801830;1801946;1802458;1802620;1802738;1824976;1846686;2088732;2088734;2088736;2088738;2088740;2088742;2088744;2088746;2088748;2088750;2088752;2088754;2088756;2088758;2088760;2088762;2088764;2088766;2088768;2088770;2088772;2088774;2088776;2088778;2088780;2088782;2088784;2088786;2088788;2088790;2088792;2116059;2128309;2196916;2196918;2196920;2196922;2196924;5093348 A009L46;D7S2127E;ECD00849;ECD01796;ECD01854;ECD02115;ECD02197;ECD02256;ECD13587;G32666;REN115625;REN115626;REN115627;REN115628;REN115629;REN115630;REN115631;REN115632;REN115633;REN115634;REN115635;REN115636;REN115637;REN115638;REN115639;REN115640;REN115641;REN115642;REN115643;REN115644;REN115645;REN115646;REN115647;REN115648;REN115649;REN115650;REN115651;REN115652;REN115653;REN115654;REN115655;RH11808;SHGC-56778;WI-13320;stSG613717;stSG613718;stSG613719;stSG613720;stSG613721 FLJ22035;GCC1P;GCC88;MGC20706 GRIP and coiled-coil domain-containing protein 1;OTTHUMP00000025208;golgi coiled-coil 1;golgi coiled-coil protein 1;peripheral membrane Golgi protein APPROVED protein-coding ENSG00000179562 19095 07599 607418 REVIEWED 1318826 GCDH glutaryl-CoA dehydrogenase The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013] 19 19 p13.2 12862974 12871783 + 13001974 13010783 + 1580863;6480464;6907045;7240710 8541831;17474147;18775954;17661081;17176108;16368216;16344560;15985591;15489334;15274622;15057824;12477932;11705404;10985795;10960496;10699052;9711871;9600243;8900228;8900227;8088809;7795610;7490088;3081514;1438360;19913121;20514322;20628086;19862010;20032085;20877624;20732827;21163940;21811973;17314511;21968293;21139048;21912879;20301313;22231382;16341674;21944461;23225040;23395213;22797925 2639 B4DK85;K7EKH1;K7EKT3;K7EQ99;K7ER63;K7ERX1;K7ES74;K7ESA6;Q92947 ABBA01029763;AD000092;AF012342;AK098370;AK290407;AK296446;AK298772;AK300841;AK309892;AMYH01009497;AU135567;BC002579;BM855466;BT006706;CH471106;DA286320;NG_009292;NM_000159;NM_013976;NR_102316;NR_102317;S77773;U69141 AAB08455;AAB34724;AAB51174;AAC52079;AAH02579;AAP35352;BAF83096;BAG59097;BAG60914;BAG62492;EAW84324;EAW84325;EAW84326;NP_000150;NP_039663;Q92947 Hs.532699 1728741;1743629;1744825;1767823;1770857;2120472;2181893;2183210;5016496;5016715;5117488;5117490 D19S1133;G49216;GDB:362952;GDB:568756;GDB:568776;GDB:568779;GDB:568782;RH17829;RH44737;RH99313;SHGC-24430;WI-17002 ACAD5;GCD glutaryl-CoA dehydrogenase, mitochondrial;glutaryl-Coenzyme A dehydrogenase APPROVED protein-coding ENSG00000105607 4189 01977 231670;608801 REVIEWED 69010 GCGR glucagon receptor The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010] 17 17 q25 79762026 79771888 + 79762010 79771889 + 704404;1580863;1625208;1625210;2315004;6480464;7240710 7773293;15687107;17010343 19051206;8144028;12626323;8563746;17374560;15489334;12724331;12536714;12477932;11961492;11707539;11692154;9105899;8382034;8020989;7589886;7507321;6303843;1908089;165216;15188402;22119466;18240029;19578796;19903011;20647307;12036966;9287038;21680267;22438981;21988832;23185367;22893257;23407487 2642 I3L1L8;I3L454;P47871 ABBA01019646;AC145207;AC174470;AJ245489;AK307234;AK314247;AMYH01008720;BC104854;BC112041;BJ997148;CH471099;L20316;L24751;NG_016409;NM_000160;U03469 AAA35897;AAA53628;AAC52063;AAI04855;AAI12042;CAB52383;EAW89684;NP_000151;P47871 Hs.208 1699960;5491473 MARC_14771-14772:1010669884:1;RH103588 FLJ97182;GGR;MGC138246 GL-R;glucagon receptor 2289501;2289511;2315441;2315444;2316339 BW444_H;BW453_H;GLUCO140_H;GLUCO234_H;INSUL42_H APPROVED protein-coding ENSG00000215644 4192 00678 125853;138033 REVIEWED 68970 GCG glucagon The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. [provided by RefSeq, Jul 2008] 2 2 q36-q37 162707634 162717003 - 162999379 163008914 - 1580863;2315015;2313224;6480464;6484113 16929363;19654434 22100593;8538742;12626323;7929237;19077438;18996102;18832087;18760331;18298441;18223636;18198306;18180317;18080106;17944883;17901057;17846745;17724330;17688385;17609256;17344652;17324423;17290009;17164779;17160672;17141269;16988001;16828127;16787987;16736556;16563563;16401467;16362283;16202636;16201096;16153418;16142014;16132964;16131602;16125528;15983224;15899957;15897480;15821104;15815621;15671479;15664668;15616022;15533774;15489334;15289644;15111524;15002062;14988249;14719035;14632334;9990065;10861272;14608103;14557443;14522730;14517773;12960095;12810581;12736145;12651102;12627948;12554744;12540594;12524435;12519856;12477932;12459036;12436337;12387900;12174892;11972291;11961492;11946536;11943215;11738243;11375130;11278902;11116211;10990079;10605628;10322410;9667960;9287128;8482423;8382034;7340337;6877358;6546710;3725587;3569278;2901414;2753890;18248821;19913121;20470376;20628086;20682687;20816021;18240029;18413175;18499738;18534636;18575785;18596108;18695009;18770489;19051206;19229515;19351867;19556358;19631991;19664300;19703531;19737911;19819966;19837920;19881250;19936703;19948975;20001917;20008019;20100914;20188316;20194524;20305008;19808921;20040695;16754659;18577758;20460948;19924023;12036966;20580750;22564875;22809889;20939591;21167157;20871975;21384500;23020846;23231933;22806360;23213228;21048796;21454562;21454584;21798957;21813805;21915820;23244065;22929437;23064014;23077074;21707949;21677044;21722955;21623172;21324568;22037645;22319034;22422137;21419173;22516009;23110179;21744074;21822931;22147710;22186413;21666414;22349073;23239758;18445652;22901716;23269670;23579541;23266825;23314196;22750392;23509106;22893257;22807616;22914550 2641 P01275 ABBA01004891;AC007750;AI818268;AMYH01011214;BC005278;BG654603;BM272442;BT006813;CB069629;CH471058;J04040;NM_002054;V01515;X03991;X05386;X05387;X05388 AAA52567;AAH05278;AAP35459;AAY24204;ABM83447;ABM86658;CAA24759;CAA27627;EAX11356;EAX11357;EAX11358;NP_002045;P01275 Hs.516494;Hs.741174 1661461;1669846;1711440;1741513;1753737;2139386;2217358 D2S2553;GCG;GCG_3981;GDB:181269;RH68969;SHGC-89190;WI-18974 GLP1;GLP2;GRPP OTTHUMP00000204570;glicentin-related polypeptide;glucagon;glucagon-like peptide 1;glucagon-like peptide 2;preproglucagon APPROVED protein-coding ENSG00000115263 4191 00676 138030 REVIEWED 1605713 GCC2 GRIP and coiled-coil domain containing 2 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 2 2 q12.3 108432068 108492286 + 109065577 109125854 + 6480464 18243103;18946081;17488291;16964243;16885419;16344560;15815621;15654769;15522892;15489334;14702039;12477932;12446665;12200376;11149944;10508479;9205841;8889548;12972563;19615732;19703403;17543864;22939629;18029348;21875948;19013454;21139048;21890473;22159419 9648 B3KR21;B8ZZA5;B8ZZW2;H7BYJ9;H7C010;Q8IWJ2 AA171957;AB002334;ABBA01000754;ABBA01000755;ABBA01000756;AC012487;AC068941;AF273042;AF432211;AI084646;AK090813;AK308707;AMYH01010853;BC020645;BC037774;BC146789;BM694019;CH471182;DA865539;NM_181453;NR_028063;XM_003960914;XM_003960915;XM_003960916;XM_003960917;XM_003960918;XM_003960919;XM_003960920 AAG34902;AAH20645;AAH37774;AAI46790;AAL99918;AAX88838;BAA20794;BAG52233;EAW53882;EAW53883;EAW53884;NP_852118;Q8IWJ2;XP_003960963;XP_003960964;XP_003960965;XP_003960966;XP_003960967;XP_003960968;XP_003960969 Hs.436505;Hs.469630 1771700;1774909;5091929;5109585;5124960 D2S1552E;D2S2897;RH11823;RH35930;RH69881 GCC185;KIAA0336;RANBP2L4;REN53 185 kDa Golgi coiled-coil protein;CLL-associated antigen KW-11;CTCL tumor antigen se1-1;GCC protein, 185-kD;GRIP and coiled-coil domain-containing protein 2;Golgi coiled-coil protein GCC185;OTTHUMP00000217161;Ran-binding protein 2-like 4;renal carcinoma antigen NY-REN-53 APPROVED protein-coding ENSG00000135968 23218 11001 612711 REVIEWED 1312440 GCFC2 GC-rich sequence DNA-binding factor 2 The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008] 2 2 p12 75742802 75791830 - 75889831 75938111 - 6480464 17474147;17309879;17081983;15815621;15489334;15302935;14702039;12477932;10500253;10480038;2556218;1370479;16341674;16344560;16713569;20189245;20379614;20846247;19471022;22745009 6936 A4UHQ8;A4UHQ9;A4UHR0;B3KUM5;C9JII4;H7C335;P16383;Q9BVX3 AB026911;ABBA01075624;AC005034;AK097564;AMYH01010457;BC000853;BC064559;BG506463;BM749635;BQ880304;BU189326;BU568226;BU623860;BU628451;BU852546;BU853933;BX109258;CH471053;DB259435;DB455842;EF158467;EF158468;EF158469;NM_001201334;NM_001201335;NM_003203 AAH00853;AAH64559;AAY14973;ABO84856;ABO84857;ABO84858;BAA85386;BAG53487;EAW99586;EAW99587;EAW99588;EAW99589;NP_001188263;NP_001188264;NP_003194;P16383 Hs.303808;Hs.662279;Hs.710597 1669054;1672349;1675983;1677244;1715747;2159730;2174302 D2S2740;FB3B11;RH119320;RH66286;RH92243;RH99131;SHGC-53332 C2orf3;DNABF;GCF;TCF9 GC binding factor;GC bindng factor;GC-rich sequence DNA-binding factor;GC-rich sequence DNA-binding factor 2;OTTHUMP00000160450;OTTHUMP00000202779;TCF-9;transcription factor 9 (binds GC-rich sequences) APPROVED protein-coding ENSG00000005436 1317 01791 189901 VALIDATED 1345739 GCH1 GTP cyclohydrolase 1 This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008] 14 14 q22.1-q22.2 54378473 54439292 - 55308723 55369542 - 1580863;1601280;1601281;6480464;6907045;7240710 7874165;15909293 3753653;14717702;16778797;9092499;16696853;1669853;11087823;2463916;16338639;9445252;12176133;15721862;17717598;7678411;12607127;15604419;17101830;10907721;3318829;19515581;19491146;19442649;19332422;19294699;19292934;19195260;19104007;19101819;19081190;19014702;19011239;18824773;18752196;18598896;18554280;18515178;18410856;18374612;18358407;18276179;18202219;18044725;17898029;17804835;17655760;17557242;17410324;17407085;17363416;17343757;17111153;16643317;16267845;16149046;15852365;15753436;15679701;15489334;15303002;14551046;12925450;12821132;12477932;12391354;12084887;11956954;11937441;11580249;11486899;11359069;11284739;11113234;11087827;10987649;10825351;10732814;10582612;10208576;10078749;10076897;9667588;9576537;9222755;8957022;8889548;8852666;8695054;8666288;8298648;8068008;7802677;7730309;7501255;1520321;1482676;8702680;9778264;19566901;20491893;19913121;20581851;20628086;20633294;19533203;19573577;19615732;19674121;19735094;19775452;19851158;19926872;19959292;17044972;20437540;23314412;20108370;20418482;20187889;18029348;20838263;20842020;21037510;20301681;20937667;22971341;21422102;21896313;21900206;21969008;21834904;21674621;21733738;22293547;22068827;22172551;22446963;22373569;23059057;21181356;21988832;23251661;22984419;22798524;22976901 2643 P30793;Q8IZH9 ABBA01018198;ABBA01018199;AF321276;AL133444;AL160471;AMYH01005743;AMYH01005744;AY137463;AY137464;AY137465;BC025415;BM971258;CH471061;CR536551;D38602;D38603;L29478;NG_008647;NM_000161;NM_001024024;NM_001024070;NM_001024071;S43856;S44049;S44053;U19259;U19523;U66095;U66097;Z16418;Z29433;Z29434;Z30952 AAB16861;AAB23164;AAB23165;AAB23166;AAB42186;AAB60633;AAD38866;AAD38868;AAH25415;AAK51704;AAN17459;AAN17460;AAN17461;ABM83924;ABM87244;CAA78908;CAA83213;CAB77391;CAB77392;CAG38788;EAW80647;EAW80648;EAW80649;EAW80650;EAW80651;EAW80652;EAW80653;NP_000152;NP_001019195;NP_001019241;NP_001019242;P30793 Hs.86724 1336594;2120102;2129467;2131248;2175912 D14S1057;D14S1190;D14S1260;D4S283;G35399 DYT14;DYT5;DYT5a;GCH;GTP-CH-1;GTPCH1;HPABH4B GTP cyclohydrolase 1;GTP cyclohydrolase I;GTP-CH-I;OTTHUMP00000178993;OTTHUMP00000244920;OTTHUMP00000244921;dystonia 14;guanosine 5'-triphosphate cyclohydrolase I APPROVED protein-coding ENSG00000131979 4193 02573 128230;233910;600225 REVIEWED 1349515 GCHFR GTP cyclohydrolase I feedback regulator GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008] 15 15 q15 38843577 38847203 + 41056285 41059911 + 728623;1580863;6480464 8702680 9092499;16696853;16778797;19101819;18372436;17135716;17101830;15649650;15489334;12607127;12477932;11799107;11580249;8125298;1286669;19913121;20628086;19674121;19926872;20351752;18457437;20848231 2644 B7ZLM8;H0YNM1;H0YNX7;P30047 ABBA01038432;AC012476;AK223430;AK311872;AMYH01006566;BC112262;BC112264;BC143904;CH471125;NM_005258;U78190 AAB37337;AAI12263;AAI12265;AAI43905;ADR82786;BAD97150;BAG34813;EAW92442;EAW92443;NP_005249;P30047 Hs.631717 1777632;2131151 RH70706;SHGC-56869 GFRP;HsT16933;MGC138467;MGC138469;P35 GTP cyclohydrolase 1 feedback regulatory protein;GTP cyclohydrolase I feedback regulatory protein;OTTHUMP00000160546 APPROVED protein-coding ENSG00000137880 4194 03895 602437 REVIEWED 69130 GCKR glucokinase (hexokinase 4) regulator This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008] 2 2 p23 27573210 27600055 + 27719706 27746551 + 1598592;1580863;1626607;2315986;2315985;2315983;6480464;7242280;7242279;7242423 14627435;12739015;11473043;18556336;19241058;21411509;21980298;19861489 21569451;8662230;11522786;10601273;19148283;19073768;19068216;19060911;19060910;19060906;19056598;18678614;18596051;18454146;18439548;18193044;18193043;18179892;18008060;17828387;17186219;17082186;16401311;16344560;15815621;12477932;11756407;10588736;9570959;9000692;8626423;8589523;7508874;20139978;20705733;22829776;21454522;20570916;20571754;20574426;20625834;20628086;20628598;20657596;20661421;20668700;20679960;20682687;20693352;20802025;19247372;19503597;19526250;19533084;19643913;19651812;19656773;19847674;19890391;19913121;19936222;19937311;20081857;20081858;20160193;20161779;20162742;20162743;20167577;20185807;20352598;20383146;20490451;19760754;20691829;20800603;20879858;20884846;20889853;21036910;21054877;21071687;21072187;20864672;21114848;21102463;21386085;21300955;12591926;21236713;21318467;21674002;21789219;21511510;22508271;22581228;22747683;22182842;23505323;22038520;22395765;22553379;22015968;22558069;22105854;20686565;21829377;21886157;21909109;21943158;22001757;22286219;22359512;22399527;21643755;22517333;21988832;23022100;23118302;23263486;23362303;23383164;22916037;22956255;22139419;22716779 2646 B4DPQ2;F5H1P6;H7C1B4;H7C4D3;Q14397 ABBA01045208;AC074117;AK291846;AK298448;AK303784;AK309599;AMYH01010197;AY320034;BC130481;BC130483;CD368544;CH471053;DA011063;NG_028024;NM_001486;Y09592;Y09593;Z48475;Z48476 AAI30482;AAI30484;AAP72013;AAY14850;ADR83072;BAF84535;BAG60664;BAG64742;CAA70779;CAA88367;CAB61828;EAX00568;NP_001477;Q14397 Hs.89771 1646393;1648467;1761319 RH12389;SHGC-145328;SHGC-35430 FGQTL5;GKRP OTTHUMP00000158533;glucokinase (hexokinase 4) regulatory protein;glucokinase regulator;glucokinase regulatory protein;hexokinase 4 APPROVED protein-coding ENSG00000084734 4196 02909 600842;613463 REVIEWED 735697 GCK glucokinase (hexokinase 4) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009] 7 7 p15.3-p15.1 44150395 44195563 - 44183870 44229022 - 1580863;704404;1582633;1581880;1598592;1601292;1601295;1601296;1601294;1581877;1300048;1601293;2301873;2301885;2301887;2301883;2301876;2301889;2302851;2302784;2311061;2301863;2302790;6480464;6484113;6907045;7240710 15138155;16186382;14627435;1570017;11372010;17186458;9435328;9324112;8495817;16752173;8200207;8200206;8314445;15173029;8325445;4353083;9540816;18774732;18332101;4273555 21518409;8446612;12941786;16173921;8325892;8878425;8132752;10601273;19368707;19358091;19336674;19282865;19241058;19228875;19150152;19146401;19125755;19096518;19073768;19060907;19018513;19002431;18828733;18811724;18809676;18805788;18672310;18651836;18571549;18556336;18498634;18483479;18450771;18411240;18399931;18397317;18382660;18370929;18325809;18322640;18298419;18271687;18248649;18196929;18184897;18159847;18039179;18008060;17994217;17976205;17937063;17584736;17573900;17561510;17389332;17327436;17260972;17216282;17186219;17082186;17070428;16963153;16936201;16632067;16444761;16378108;16344560;16331569;16186409;15987895;15928245;15918042;15841481;15677518;15677479;15489334;15305805;15277402;15009676;14747279;14702039;14617577;14578306;14517946;12690205;12627330;12515438;12477932;12442280;12101177;12050210;11914755;11772903;11756407;11522786;11473043;11440371;11112984;11237213;11106831;10694920;10588527;9662401;9469993;9270716;9049484;9000692;8626423;8549853;8454109;8433729;8376578;8194664;8168652;8094164;8094163;1871135;1740342;1740341;1612194;1545870;1511800;1502186;1464666;1397713;1360036;1354840;1349989;1303265;18588509;21348868;22432108;22653590;21104275;19913121;20536962;20628086;20628598;20668700;20682687;20682688;18208578;19169489;19187021;19410318;19411616;19459610;19473033;19515026;19533084;19551638;19564454;19578796;19617908;19643913;19651812;19741163;19741166;19790256;19884385;19934346;19937311;19948975;20015564;20081858;20144192;20164212;20185807;20227404;20337973;20458967;20490451;20132997;20845477;20858683;20889853;21036910;20828143;20587714;20979768;9570959;20301620;20878480;21604084;21978167;22332836;23029263;23155715;21454584;21420961;21544516;22335469;22517333;20849852;21437567;22043488;22291974;22581228;23271955;22038520;22298776;21720051;22096510;22177951;22341299;22493702;22540858;21909109;22060211;22399527;20301549;22611063;22761713;23085272;23139355;22820548 2645 C9JQD1;H7BXV0;P35557;Q53Y25 AACC02000110;ABBA01058215;AC006454;AF041013;AF041014;AF041022;AK122876;AMYH01017209;BC001890;BT007062;CD251038;CH236960;CH471128;DA640823;EU008605;HB877574;HC934983;M69051;M88011;M90298;M90299;NG_008847;NM_000162;NM_033507;NM_033508 AAA51824;AAA52562;AAA67541;AAA67542;AAB59563;AAB97680;AAB97681;AAB97682;AAH01890;AAP35711;ABM84761;ABS31137;BAG53774;CBF63115;CBU87991;EAL23764;EAL23765;EAL23766;EAW61114;EAW61115;EAW61116;NP_000153;NP_277042;NP_277043;P35557 Hs.1270 1742105;2108775;2117197;2123011;2124719;2154524 GCK_7794;GDB:1317412;GDB:191176;GDB:3754299;RH11460;SHGC-12738 FGQTL3;GK;GLK;HHF3;HK4;HKIV;HXKP;LGLK;MODY2 ATP:D-hexose 6-phosphotransferase;HK IV;OTTHUMP00000159306;OTTHUMP00000159307;OTTHUMP00000159308;OTTHUMP00000209239;glucokinase;hexokinase D, pancreatic isozyme;hexokinase type IV;hexokinase-4;hexokinase-D APPROVED protein-coding ENSG00000106633 4195 00680 125851;125853;138079;602485;606176 REVIEWED 1350573 GCNT1P1 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 1 20 20 20 p11.23 18474700 18476351 - 18348804 18350074 - 18400621 18402272 - 8748164 170517 ABBA01054045;AL121893;AMYH01011743;L42230;NG_001039 1650991 STS-L42230 GCNT1P;bA189K21.2 APPROVED pseudo 16532 INFERRED 2881094 GCNT1P2 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2 5 5 22466760 22467594 - 22580350 22581184 - 100421560 ABBA01066601;AC108089;AMYH01014966;NG_021841 pseudo 37972 INFERRED 736793 GCLC glutamate-cysteine ligase, catalytic subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010] 6 6 p12 53470098 53517790 - 53362139 53409927 - 1302514;1302515;1580863;1300048;5134682;5134681;6480464;6907045;7240710 10515893;12598062;16690975;19879314 24639;9675072;9841880;8104187;11972604;16183645;10439045;2294991;12663448;10395918;19347979;19041695;18977241;18926903;18614560;18560528;18549827;18420959;18276794;18066575;18035085;17961430;17921251;17643973;17601350;17479437;17344309;17333241;17207022;17109620;16766924;16599007;16491484;16403949;16322067;15489334;15485876;15451055;14702039;14676828;14574404;12500194;12477932;12070177;11844594;11820781;10733484;8995480;8825659;7789189;7726839;5058793;1350904;21105962;21156206;20485444;20615707;20655259;20659789;20689807;20712757;19567187;19515364;19578796;19817962;20180881;20200426;20732852;20970495;22863883;22990118;22452920;21555518;21277635;21438662;21657237;22824134;21444626;20673128;21962117;21139048;21906983;19322201;21871559;22249522;21988832;23255485 2729 D6R959;D6REX4;D6RGF8;D6RIT4;E1CEI4;H0Y9I7;H0YAB6;P48506;Q14TF0 AB262176;AB516284;ABBA01050528;ABBA01050529;ABBA01050530;ABBA01050531;AF118846;AK094940;AK304288;AK313480;AL033397;AL531593;AMYH01016360;AY780794;BC022487;BC039894;BC047788;BG700922;BG704750;BI550814;CH471081;L39773;M90656;NG_012071;NM_001197115;NM_001498 AAA58499;AAC41751;AAD18031;AAH22487;AAH39894;AAV31778;ACE86887;ACE87574;BAE97618;BAG36264;BAG65146;BAJ21361;EAX04425;EAX04426;NP_001184044;NP_001489;P48506 Hs.654465 1337136;1667183;1669310;1697696;1708332;1754523;1788066;1788068;1788070;1857914;2113270;2124216;2137567;2178574;2183403;5015619;5020335 D11S3114;D6S1623;D6S2060;D6S2404;D6S385;G67293;G67294;G67295;RH102364;RH36336;RH45278;RH68488;SHGC-132802;SHGC-53188;SHGC-81565;STS-M90656;STS-N29549 GCL;GCS;GLCL;GLCLC GCS heavy chain;OTTHUMP00000217803;gamma-ECS;gamma-glutamylcysteine synthetase;glutamate--cysteine ligase catalytic subunit;glutamate-cysteine ligase catalytic subunit APPROVED protein-coding ENSG00000001084 4311 06032 230450;606857;608446 REVIEWED 2880987 GCNT1P3 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 3 3 3 188772889 188773456 + 190342388 190342955 + 100421581 ABBA01058326;AC008249;AMYH01013758;NG_022287;NG_029105 pseudo 37973 INFERRED 2880986 GCNT1P5 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 5 7 7 71791121 71792104 + 77090473 77091456 + 100421598 ABBA01058006;AC004921;AMYH01017628;NG_022567 pseudo 37975 INFERRED 731551 GCLM glutamate-cysteine ligase, modifier subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. [provided by RefSeq, Jul 2008] 1 1 p22.1 94125178 94147600 - 94352590 94375012 - 1580863;1300048;6480464;6907045;7240710 9841880;16183645;9675072;17353931;9895302;10395918;12081989;12975258;19420105;19126404;19056482;18991850;18614560;18560528;18449862;18066575;17961430;17924854;17643973;17548779;17344309;17333241;16909399;16766924;16710414;16677451;16599007;16081425;15946948;15489334;15451055;14532974;12477932;10674357;9841137;8978789;8825659;7829101;7826375;21145461;21105962;19913121;20485444;20598694;20628086;20712757;19153097;19455074;19578796;19584774;19808663;19896490;20200426;16712791;20061124;21504558;21555518;20970495;22939629;21277635;21139048;22863883;21988832;23400010 2730 P48507;Q5YKL1 ABBA01045517;ABBA01045518;AK290449;AL049796;AL117351;AMYH01000805;AY382196;AY773965;BC041809;BE269549;BE866085;BF031933;BF213407;BF219130;BF246042;BF541340;BF541441;BF698337;BG291243;BG547387;BI497338;BM468805;BQ049850;BQ224592;BU600458;C17598;C18245;C18878;C18959;C19097;CB114258;CB128427;CH471097;CK818048;CR541833;D63311;L35546;NG_012072;NM_002061;R69169 AAA65028;AAH41809;AAR29001;AAV28733;BAF83138;CAG46632;EAW73059;EAW73060;EAW73061;EAW73062;NP_002052;P48507 Hs.315562 1660953;1748267;1748269;2138232;2217360;5015961;5037552;5109281;5122475 D15S1477;D1S1425;D1S3247;D1S3412;D8S2279;G66719;G66720;GCLM_3987;RH69046 GLCLR GCS light chain;GSC light chain;OTTHUMP00000012299;gamma-ECS regulatory subunit;gamma-glutamylcysteine synthetase regulatory subunit;glutamate cysteine ligase, modifier subunit;glutamate--cysteine ligase modifier subunit;glutamate--cysteine ligase regulatory subunit;glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD);glutamate-cysteine ligase regulatory protein APPROVED protein-coding 4312 03106 601176;608446 REVIEWED 3051019 GCNT1P4 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 4 6 6 62727774 62728226 + 64567211 64567663 + 100462829 ABBA01023953;AL354913;AMYH01016389;NG_022356 pseudo 37974 INFERRED 1351431 GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 9 9 q13 78246402 78312152 + 79056582 79122332 + 1580863;632804;6480464;6907045 7560067 1329093;19267921;18815556;17947642;17530395;16778138;16344560;16179912;15932919;15926890;15882971;15591039;15483269;15342556;15026421;12765965;12626388;12600830;12477932;9915862;9278427;8449405;7579796;21081110;21546767;19524017;20017138;20841351;23027862;21712812;22056345;22534569 2650 Q02742;Q86T81 ABBA01033909;ABBA01033910;ABBA01033911;AI445628;AJ420416;AK313343;AL161626;AL590664;AL832647;AMYH01021424;AY196293;AY196294;AY196295;AY196296;AY196297;BC074885;BC074886;BC109101;BC109102;BP359964;CH471089;DA479942;L41390;L41415;M97347;NM_001097633;NM_001097634;NM_001097635;NM_001097636;NM_001490 AAA35919;AAA96661;AAH74885;AAH74886;AAI09102;AAI09103;BAG36146;CAD89956;EAW62580;NP_001091102;NP_001091103;NP_001091104;NP_001091105;NP_001481;Q02742 Hs.521568 1647548;1652946;1654529;1698262;1795904;2147022;5492687 GCNT1_1157;RH102667;RH65499;SGC35269;SHGC-5528;SHGC-57145;UniSTS:482035 C2GNT;C2GNT-L;C2GNT1;G6NT;MGC126335;MGC126336;NACGT2;NAGCT2 OTTHUMP00000021502;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase;beta-1,6-N-acetylglucosaminyltransferase;core 2 GnT;core 2 beta-1,6-N-acetylglucosaminyltransferase I;core 2 beta1,6 N-acetylglucosaminyltransferase-I;core 2 branching enzyme;core 2-branching enzyme;core2-GlcNAc-transferase;glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) APPROVED protein-coding ENSG00000187210 4203 02669 600391 REVIEWED 1348704 GCM1 glial cells missing homolog 1 (Drosophila) This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008] 6 6 p12.1 53099721 53121586 - 52991759 53013624 - 1580863;6480464 15385555;8962155;19204726;18703417;18160678;17646165;16594548;16528103;16166624;16004993;15640526;15489334;15135239;15081636;14574404;12477932;12397062;11071865;10858268;10542267;19219068;19321927;19890582;20484742;21406447;19416964;22975632;22206674;21791615;19692500;20855292;22275534;22109522;23438603;22778138 8521 Q9NP62 AB026493;AB041714;AB041716;AB047819;ABBA01050543;AI219562;AK309881;AL512347;AMYH01016357;BC096288;BC096289;CH471081;D88613;NM_003643 AAH96288;BAA13651;BAA77250;BAA94757;BAA94758;BAB18039;EAX04412;NP_003634;Q9NP62 Hs.28346 1793694;2113266;2113268;2150242;2152313;2218544;5022578 D1S1423;D6S2401;D6S2402;GCM1_2216;PMC26236P1;RH71335;STS-R82207 GCMA;hGCMa GCM motif protein 1;OTTHUMP00000016631;chorion-specific transcription factor GCMa APPROVED protein-coding ENSG00000137270 4197 04757 603715 REVIEWED 1322420 GCM2 glial cells missing homolog 2 (Drosophila) This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008] 6 6 p23 10981450 10990084 - 10873456 10882098 - 1598942;1580863;6480464 11602629 12477932;15863676;15728199;9928992;18712808;18583467;18182452;15657585;15489334;14715818;14574404;12354132;10343099;19257819;19448621;19940031;20190276;20558332;20463099;21164298;23155703;21642377;22066718 9247 D3GDV6;O75603 ABBA01022089;AF079550;AF091149;AI028145;AL024498;AL357497;AMYH01016080;BC069603;BC117316;BC117318;FJ655849;NG_008970;NM_004752 AAC33792;AAC98097;AAH69603;AAI17317;AAI17319;ACV69998;NP_004743;O75603 Hs.227098 1697140;1797570;2114297 G31527;GCM2_2360;RH102056 GCMB;hGCMb GCM motif protein 2;OTTHUMP00000016026;chorion-specific transcription factor GCMb;glial cells missing 2;glial cells missing homolog b;glide/gcm protein homolog APPROVED protein-coding ENSG00000124827 4198 04758 603716 REVIEWED 1342918 GCNT6 glucosaminyl (N-acetyl) transferase 6 6 6 6 p24.2 11862492 11875989 + 10735677 10755487 + 10633993 10647501 + 644378 J3KQG7;Q5T4J0 XM_001718537;XM_927529 Q5T4J0;XP_001718589;XP_932622 1676998;2145272;2186105 D6S2094;RH76163;STS-Z19550 bA421M1.3 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 6;glucosaminyl (N-acetyl) transferase 6 protein-coding 21623 1354424 GCNT7 glucosaminyl (N-acetyl) transferase family member 7 20 20 20 q13.2 51806975 51841413 - 54499955 54534613 - 55066548 55100981 - 6480464 140687 F2Z6J8;Q6ZNI0 AB085693;ABBA01052895;AK131203;AL109806;AMYH01012005;NM_080615 BAD18395;BAK20458;NP_542182;Q6ZNI0 Hs.655916 2128917;2158753;2168444;5093764 A009W14;D20S743;G32909;RH17873 C20orf105;dJ1153D9.2;gcnt OTTHUMP00000031350;beta 1,6-N-acetylglucosaminyltransferase;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7;chromosome 20 open reading frame 105 protein-coding 16099 VALIDATED 1602489 GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 5 5 5 q12 70217451 70220886 - 74359045 74362480 - 74323289 74326724 - 6907045;6480464 10753916;23362303 51301 Q9P109 ABBA01061941;AC093259;AF132035;AMYH01015408;CH471084;NM_016591 AAF63156;AAI60070;EAW95751;NP_057675;Q9P109 Hs.272404 C2GNT3 OTTHUMP00000161946;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4;core 2 beta-1,6-N-acetylglucosaminyltransferase 3;core 2-branching enzyme 3;core2-GlcNAc-transferase 3;glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) APPROVED protein-coding ENSG00000176928 17973 16651 VALIDATED 1347865 GCOM2 GRINL1B complex locus 2, pseudogene 4 4 4 q12 66366445 66370549 + 68586735 68590833 + 68904134 68908238 + 1580863 18987736;15815621;12063407;20811636 339970 Q9BZD3 ABBA01022908;AC096727;AF326970;AMYH01014249;NG_009901 AAG50023;Q9BZD3 1675343;1677336;1681364;1687209;1687568;1858140;2146353 D4S3096;RH28685;RH39519;RH39550;RH76145;SHGC-67777;WI-20619 GLURR2;GRINL1B APPROVED pseudo 15712 608311 INFERRED 1344597 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type This gene encodes a member of the N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009] 15 15 15 q21.3 36791942 36800170 + 57696080 57699494 + 59903982 59912210 + 1580863;6480464;6907045 9988682;17303715;16418723;15342556;12600830;12477932;9915862;20816165;17207965;22988244 9245 H0YM40;H0YMW7;H0YNA3;O95395 ABBA01038958;AC092754;AC092755;AF038650;AF102542;AK312852;AMYH01006685;BC017032;BP243086;CH471082;EF152283;NM_004751 AAD10824;AAD21525;AAH17032;ABM21534;ADQ32751;BAG35705;EAW77571;EAW77572;NP_004742;O95395 Hs.194710 1716925;2107145 GCNT3_7938;RH121837 C2/4GnT;C24GNT;C2GNT2;C2GNTM;GNTM C2GnT-mucin type;OTTHUMP00000163601;beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3;beta1,6-N-acetylglucosaminyltransferase-M;beta1,6GlcNAc-transferase;core 2/core 4 beta-1,6-N-acetylglucosaminyltransferase;hC2GnT-M;mucus-type core 2 beta-1,6-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000140297 4205 06018 606836 REVIEWED 1312843 GCN1L1 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 12 12 12 q24.2 120198130 120265628 - 119049397 119116896 - 120565014 120632513 - 1580863;6480464 17353931;9234705;16541075;15635413;15489334;12477932;12168954;11790298;9039502;21319273;11101529;17643375;19615732;20562859;20936779;19454010;22863883;20534441;22939629;17314511;18029348;15161933;18457437;20360068;21081666;21987572;22108332;22118674;21139048;21890473;21906983;22586326;15174051;19738201;19805454;21963094;22623428;23000965;23251661;22053931;22505724 10985 Q99736 ABBA01020096;ABBA01020097;ABBA01020098;AC004263;AC004812;AK297271;AMYH01004798;BC021129;BC032335;BC040172;BC046177;BC064346;BC113083;BC113084;BC153881;BK006575;BQ929459;BU186578;CH471054;D86973;NM_006836;U77700;U88836;U88837 AAC51648;AAC83183;AAD00655;AAD00656;AAH21129;AAH32335;AAH46177;AAH64346;AAI53882;BAA13209;BAG59744;DAA33878;EAW98167;EAW98168;EAW98169;NP_006827;Q92616 Hs.298716 1648186;2124111;2159564;2167663;5022706 G41318;GCN1L1;RH25426;RH48432;WI-15308 GCN1;GCN1L;KIAA0219;PRIC295 GCN1 (general control of amino-acid synthesis 1, yeast)-like 1;GCN1 (general control of amino-acid synthesis, yeast, homolog)-like;GCN1-like protein 1;OTTHUMP00000240849;hsGCN1;peroxisome proliferator activated receptor interacting complex protein;translational activator GCN1 protein-coding ENSG00000089154 4199 16127 605614 VALIDATED 6769552 GCSHP2 glycine cleavage system protein H (aminomethyl carrier) pseudogene 2 14 q32.32 103650659 103651408 + 100288298 ABBA01048434;AL161669;AMYH01006043;NG_016382 pseudo 43927 INFERRED 6770725 GCSHP3 glycine cleavage system protein H (aminomethyl carrier) pseudogene 3 2 206980297 206981296 - 8889548 100329109 ABBA01062649;AC007383;AMYH01011436;AV703937;BM685716;NR_033248 Hs.356055 1658105 SGC30424 pseudo 43929 PROVISIONAL 6900315 GCSAML-AS1 GCSAML antisense RNA 1 1 q44 247687981 247694106 - 19684603;12477932;16344560 148824 ABBA01031788;AL606804;AMYH01001913;BC034303;DB139678;NR_027309 Hs.23491 1670547 D1S3593 miscrna 41244 VALIDATED 6769561 GCSHP4 glycine cleavage system protein H (aminomethyl carrier) pseudogene 4 12 p13.31 8293096 8295187 - 100287495 ABBA01012237;AC092111;AMYH01004225;NG_016379 pseudo 43930 INFERRED 1353826 GCSL glycine cleavage system protein L 1993704 2654 4209 1345105 GCTG gamma-glutamylcyclotransferase 2655 4210 6770724 GCSHP5 glycine cleavage system protein H pseudogene 5 1 168024597 168025731 - 16341674 100329108 AL033531;AMYH01001484;NG_029194 1737311 D16S2649 pseudo 44195 INFERRED 1605281 GCSAML germinal center-associated, signaling and motility-like This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 1 1 1 q44 221011245 221038655 + 245779072 245806482 + 247712451 247739859 + 6480464 12477932;17207965;16344560 148823 E7ESF0;E9PLW0;E9PR51;E9PRX8;Q5JQS6 ABBA01031788;AK123798;AK124520;AK126682;AK307081;AK307082;AK311994;AL606804;AMYH01001913;BC024174;BU155429;BU852381;CH471148;DA118297;DB095029;DC310064;NM_001281834;NM_001281835;NM_001281836;NM_001281837;NM_001281838;NM_001281853;NM_145278 AAH24174;ADQ32207;BAC85873;BAG34932;BAG54358;EAW77193;NP_001268763;NP_001268764;NP_001268765;NP_001268766;NP_001268767;NP_001268782;NP_660321;Q5JQS6 Hs.732113 2113652 AB060908 C1orf150;FLJ41804;FLJ44728;RP11-978I15.8 OTTHUMP00000038412;OTTHUMP00000038413;OTTHUMP00000038414;OTTHUMP00000231807;germinal center-associated signaling and motility-like protein;putative uncharacterized protein C1orf150 APPROVED protein-coding ENSG00000169224 29583 14082 REVIEWED 1343914 GCY growth control, Y chromosome influenced 2656 4211 1607088 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 p24.2 10636697 10737587 + 10521568 10629601 + 6480464;6907045 15161861;14702039;14672974;12477932;12468428;12424189;12244172;15489334;11739194;9915862;9417921;9405606;7579796;2791656;438154;8449405;9134435;17855628;16344560;15882971;21541272;21750175;21761136 2651 B7ZBL3;Q06430;Q8N0V5;Q8NFS9 AB078432;AB078433;ABBA01022079;ABBA01022080;ABBA01022081;AF401652;AF401653;AF458024;AF458025;AF458026;AF458027;AF458028;AF458029;AF458030;AK090483;AK098105;AK291195;AK291767;AK307337;AK307373;AK310216;AK313426;AK313903;AL139039;AL358777;AL832714;AL832719;AMYH01016079;AY435145;AY435146;AY435147;BC074801;BC074802;BC130524;BX503586;BX647576;BX647668;CH471087;DB208581;L19659;L41605;L41607;NG_007469;NM_001491;NM_145649;NM_145655;Z19550 AAA81777;AAA99832;AAH74801;AAH74802;AAI30525;AAL50561;AAL50562;AAM73864;AAM73865;AAM73866;AAM73867;AAM73869;AAM73870;AAM74524;AAR95646;AAR95647;AAR95648;ADR82994;BAC03464;BAC05234;BAC66781;BAC66782;BAF83884;BAF84456;BAG36218;BAG36626;CAA79610;CAI46081;EAW55259;EAW55260;EAW55261;EAW55262;NP_001482;NP_663624;NP_663630;Q06430;Q8N0V5;Q8NFS9 Hs.519884 2145272;2153409;2186105 D6S1995;D6S2094;STS-Z19550 CCAT;CTRCT13;GCNT2C;GCNT5;IGNT;II;MGC163396;NACGT1;NAGCT1;ULG3;bA360O19.2;bA421M1.1 I beta-1,6-N-acetylglucosaminyltransferase;I-branching beta-1,6-acetylglucosaminyltransferase;I-branching enzyme;Ii blood group;N-acetylglucosaminyltransferase;N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase;N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase;OTTHUMP00000016015;OTTHUMP00000016018;OTTHUMP00000016021;beta-1,6-N-acetylglucosaminyltransferase 2 APPROVED protein-coding ENSG00000111846 4204 02695 110800;600429 REVIEWED 1606709 GCOM1 GRINL1A complex locus 1 This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternate splicing results in two readthrough transcript variants that encode different isoforms. One of the readthrough variants encodes a fusion protein that shares sequence identity with each individual gene product. The other variant encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Nov 2011] 15 15 15 q21.3 34774420 34899440 + 55671406 55797045 + 57884102 58009755 + 6480464 11474202;18849881;15489334;15233991;15146197;14702039;12477932;20093627;21347282 145781 H0YCD3;H3BTD5;H8Y6P7;Q8NCF3 ABBA01038988;ABBA01038989;ABBA01038990;ABBA01038991;AC025271;AC090651;AMYH01006677;AMYH01006678;AY207007;AY208913;AY331564;AY333779;AY334560;AY334561;AY334562;AY341345;AY350748;AY353056;AY353057;AY353058;AY353060;BC050322;BU753055;BX095570;CH471082;CN284687;JF419331;NM_001018090;NM_001018091 AAO39707;AAP41549;AAQ76825;AAQ76826;AAQ76827;AAQ76828;AAQ76829;AAQ76831;AAQ76832;AAQ76833;AAQ76834;AAQ76836;AAQ82541;AEB96260;EAW77522;EAW77523;NP_001018100;NP_001018101 Hs.437256 1339913;1340757;1675343;1677336;1681364;1687209;1687568;1708020;1739225;1759601;1768898;1858140;2143745;2146353 D15S1022;D15S870;D15S998;D4S3096;RH28685;RH39519;RH39550;RH76145;SHGC-150909;SHGC-56823;SHGC-67777;SHGC-81358;WI-13387;WI-20619 FLJ30973;GRINL1A;Gcom2;Gup;Gup1;Gup2;MGC126694;MGC138353;MYOZAP;MYZAP;MYZAP-POLR2M;gcom GRINL1A combined protein;GRINL1A combined protein Gcom12;GRINL1A combined protein; GRINL1A complex locus protein 1;GRINL1A combined protein; GRINL1A upstream protein;GRINL1A complex locus protein 1;GRINL1A upstream protein;MYZAP-POLR2M protein;MYZAP-POLR2M readthrough;NMDAR1 subunit-interacting protein;OTTHUMP00000163286;OTTHUMP00000163287;OTTHUMP00000163343;OTTHUMP00000163344;OTTHUMP00000233013;OTTHUMP00000233014;OTTHUMP00000233015;OTTHUMP00000233016;OTTHUMP00000233017;OTTHUMP00000233018;OTTHUMP00000233019;OTTHUMP00000233020;OTTHUMP00000233021;gcom;glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A combined protein;myocardial zonula adherens protein;myocardium-enriched Zo-associated protein;myocardium-enriched zonula occludens-1-interacting protein APPROVED protein-coding 26424 08091 614071 VALIDATED 1343482 GCSAM germinal center-associated, signaling and motility This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 q13.2 113322378 113334807 - 111839688 111852152 - 6480464 18029348;18264083;17823310;15677569;15591113;15489334;14702039;12819018;12509382;12477932;21475040;21447067;20697248;17207965;15342556;16344560;19883310;20844236;21502424;21722313;21988858;22743653;23299888 257144 C9IY73;C9JY41;F2Z3F7;Q8N6F7 AA237025;ABBA01061666;ABBA01061667;AC128688;AF521911;AK313368;AMYH01013389;AW576133;AY212246;BC030506;BM456595;BP224611;BX280641;CH471052;DA455714;NM_001190259;NM_001190260;NM_152785 AAH30506;AAO21701;AAO22147;ADQ31706;BAG36167;EAW79680;NP_001177188;NP_001177189;NP_689998;Q8N6F7 Hs.49614 1671795;1685620;1750327 RH99175;SHGC-112515;SHGC-58367 GCAT2;GCET2;HGAL;MGC40441 OTTHUMP00000214427;OTTHUMP00000214474;OTTHUMP00000214477;OTTHUMP00000214479;OTTHUMP00000214480;germinal center B-cell-expressed transcript 2 protein;germinal center expressed transcript 2;germinal center-associated lymphoma protein;germinal center-associated signaling and motility protein;human germinal center-associated lymphoma APPROVED protein-coding ENSG00000174500 20253 09695 607792 REVIEWED 1602016 GCUD2 gastric cancer up-regulated-2 q32.1 12477932 653573 AB096683;AL109844;BC146978;BC146992;NM_207418 AAI46979;AAI46993;BAD20788;NP_997301;Q6L9T8 Hs.535577;Hs.715930 MGC57827 protein-coding 14694 1348453 GCSH glycine cleavage system protein H (aminomethyl carrier) Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010] 16 16 q23.2 79673430 79687481 - 81115552 81129980 - 1580863;6480464;7240710;7242560 20645850 3348809;1671321;19299230;16450403;15489334;12477932;12402263;11450847;6790577;6111451;2025283;16169070;16189514;11752456;15146197;19844255;20301531;21539457 2653 H3BNV1;H3BPF0;H3BQ30;H3BUG8;H3BUH9;P23434 ABBA01016985;AC092718;AI656660;AK311978;AMYH01007848;AV696698;AY310735;AY533031;BC000790;BC009065;BC020922;BF798008;BG708388;BT009827;CH471114;CN283805;CN283809;CR457072;D00723;M69175;NG_016427;NM_004483;NR_033249 AAA36011;AAH00790;AAH20922;AAP50260;AAP88829;AAS59848;BAA00625;BAG34917;CAG33353;EAW95545;EAW95546;NP_004474;P23434 Hs.546256 1689083;1737311 D16S2649;RH65079 GCE;NKH OTTHUMP00000174971;glycine cleavage system H protein, mitochondrial;lipoic acid-containing protein;mitochondrial glycine cleavage system H-protein APPROVED protein-coding ENSG00000140905 4208 01998 238330;605899 REVIEWED 1314445 GDAP2 ganglioside induced differentiation associated protein 2 1 1 1 p12 116633773 116699967 - 118213560 118273729 - 118406107 118472302 - 6480464 16344560;12477932;10217254;20379614;21139048;21890473;21906983;22505724 54834 Q9NXN4 AA281062;AA825512;ABBA01068504;AK000149;AL121993;AL122007;AMYH01000974;BC013132;BC013324;BJ992034;BX459360;CH471122;DA608938;DB043931;NM_001135589;NM_017686 AAH13132;BAA90976;EAW56682;EAW56683;NP_001129061;NP_060156;Q9NXN4 Hs.310809;Hs.594430 1686941;1692140;1771100;1773762;2123057;2135258;2154310;5024545 AFMb281za9;AL033703;D1S3695;RH45069;SHGC-33620;SHGC-75363;SHGC-75387;SHGC-75390 FLJ20142;MACROD3;dJ776P7.1 OTTHUMP00000014054;OTTHUMP00000014055;ganglioside-induced differentiation-associated protein 2 protein-coding ENSG00000196505 18010 06576 VALIDATED 734410 GDE1 glycerophosphodiester phosphodiesterase 1 16 16 16 p12-p11.2 18662036 18682461 - 19420516 19440951 - 19513015 19533450 - 6480464 10760272;18227059;16806233;16472945;15489334;12576545;12477932;10493829;20668064;20031211;21081469;21464471;22463747 51573 H3BNA5;H3BRL5;H3BU22;Q9NZC3 ABBA01028263;AC003108;AC012621;AC130456;AF212862;AF306697;AF306698;AK312912;AMYH01007323;AY463154;BC001538;BC012153;BC014981;BC025273;BQ897064;CH471186;CS185583;NM_016641;U91321 AAC05440;AAC05803;AAF65234;AAH14981;AAH25273;AAR25624;BAG35758;CAJ42764;EAW50283;EAW50284;EAW50285;EAW50286;NP_057725;Q9NZC3 Hs.512607 1657238;1689231;2156180;2175629 RH78973;RH93458;SHGC-60880;SHGC-61116 363E6.2;MIR16 OTTHUMP00000162156;RGS16-interacting membrane protein;glycerophosphodiester phosphodiesterase 1;membrane interacting protein of RGS16;membrane-interacting protein of RGS16 protein-coding ENSG00000006007 29644 12070 605943 VALIDATED 1319106 GDAP1 ganglioside induced differentiation associated protein 1 This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012] 8 8 q21.11 75425173 75441900 + 75262618 75279345 + 1358634;6480464;7240710 12499475 19340293;18991200;18504680;18492089;18464913;18421898;18231710;18062449;17903300;17433678;16857173;16607474;16343542;15805163;15772096;15489334;15019704;14561495;12868504;12707075;12601710;12566285;12477932;11743580;11743579;11592034;10217254;54332;20232219;20685671;19089472;19381883;19500985;19720140;19782751;19837996;20849849;20301711;8268915;21199105;23147504;22546700;22939629;21365284;21692914;21890626;21753178;21965300;21906983;20301462;20301641;22971097 54332 E5RGI2;E7FJF3;Q8TB36 AB551556;AB551557;AB551558;ABBA01041980;AC103952;AK292572;AK295594;AL110252;AMYH01018799;BC024939;BC035450;BC036496;CH471068;DB505741;NG_008787;NM_001040875;NM_018972;NR_046346;Y17849 AAH24939;BAF85261;BAG58484;BAJ65577;BAJ65578;BAJ65579;CAA76892;EAW87032;EAW87033;NP_001035808;NP_061845;Q8TB36 Hs.168950 1674512;1679806;2109341;2120855;2123027;2191337 A004Y31;GDAP1_9778;MARC_17537-17538:1017261090:1;RH12692;RH18434;RH91794 CMT4;CMT4A;CMTRIA Charcot-Marie-Tooth neuropathy 4A;OTTHUMP00000226874;OTTHUMP00000226875;ganglioside differentiation associated protein 1;ganglioside-induced differentiation-associated protein 1;truncated ganglioside differentiation associated protein 1 APPROVED protein-coding ENSG00000104381 15968 05963 214400;606598;607706;607831;608340 REVIEWED 731907 GDF11 growth differentiation factor 11 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice and Xenopus suggest that this protein is involved in mesodermal formation and neurogenesis during embryonic development. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55789534 55799135 + 54423331 54430332 + 56137064 56146665 + 1580863;704404;6480464 10075854;10391213;18596030;18535106;18519639;17997109;17912435;15988002;10508689;8889549;16845371;19751112;20734064 10220 H0YI30;O95390 AA053348;ABBA01008386;ABBA01008387;AC073487;AF028333;AF028334;AF100907;AMYH01004497;CH471054;NM_005811 AAC72852;AAF21630;AAF21631;AAI48592;EAW96830;EAW96831;NP_005802;O95390 Hs.600883 1668425;1681795;1797574;1855631;2110527;2134225;2135011;2168820;5493860 A008V16;GDF11_2359;Gdf11;MARC_41381-41054:1084804684:3;RH47413;RH78293;RH99137;SGC34566;WI-16726 BMP-11;BMP11 GDF-11;OTTHUMP00000243162;OTTHUMP00000243217;bone morphogenetic protein 11;growth/differentiation factor 11 APPROVED protein-coding ENSG00000135414 4216 04895 603936 REVIEWED 1312261 GDF1 growth differentiation factor 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. [provided by RefSeq, Jul 2008] 19 19 p12 18840354 18842116 - 18979361 19006953 - 1580863;6480464;7240710 15057824;19553149;19359031;17924340;12477932;10844590;9872981;8401586;2034669;1704486;20634891;20807224;20413652;20734064;23076529 2657 P27539;Q59GE0 AB209169;ABBA01051294;ABBA01051295;AC003972;AC005197;AMYH01009602;AMYH01009603;AMYH01009604;AMYH01009605;CH471106;M62302;NG_012070;NG_033056;NM_001492 AAA58501;AAB94786;BAD92406;EAW84743;EAW84744;NP_001483;P27539 Hs.412355 1656803;1739657;2176109 A006H36;D19S842E;WI-14123 DORV;DTGA3 GDF-1;embryonic growth/differentiation factor 1 APPROVED protein-coding ENSG00000130283 4214 04194 187500;217095;602880;613854 REVIEWED 1347948 GDF4 growth differentiation factor 4 23709 4219 734048 GDA guanine deaminase This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 9 9 q21.13 73954113 74056960 + 74729511 74867140 + 1580863;1300048;6480464;6907045 20471030;12477932;10595517;10574462;7566098;3966794;2649557;14702039;10075721;10542258;16953063;16953061;15489334;14730308;20379614;17207965;20877300;22863883;16344560;21906983;18781797;16027165 9615 H0YDZ7;J3QSY3;Q5SZC3;Q5SZC5;Q5SZC6;Q9Y2T3 AA985376;AB033084;ABBA01033851;ABBA01033852;ABBA01033853;AF019638;AF095286;AJ420441;AK023729;AK097540;AK295716;AK300418;AK315988;AL135924;AL583829;AL590311;AMYH01021404;BC012859;BC033310;BC053584;CH471089;DA212666;NG_030562;NM_001242505;NM_001242506;NM_001242507;NM_004293;R45063 AAD25978;AAF13301;AAH53584;ADQ32583;BAA86572;BAG53485;BAG58560;BAG62147;BAH14359;EAW62528;EAW62529;EAW62530;NP_001229434;NP_001229435;NP_001229436;NP_004284;Q9Y2T3 Hs.494163 1661913;1735940;1740011;1744359;1851877;2132807;2150524;2174859;5015404;5020948 1668;A002U11;D9S1069E;D9S1761;G35510;GDB:451815;L17705;RH12787;RH18389;WIAF-1619 CYPIN;GUANASE;KIAA1258;MGC9982;NEDASIN GAH;OTTHUMP00000021463;OTTHUMP00000021464;OTTHUMP00000021467;cytoplasmic PSD95 interactor;guanine aminase;guanine aminohydrolase;guanine deaminase;p51-nedasin APPROVED protein-coding ENSG00000119125 4212 08849 139260 REVIEWED 1342570 GDF10 growth differentiation factor 10 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice suggest that the protein encoded by this gene plays a role in skeletal morphogenesis. [provided by RefSeq, Jul 2008] 10 10 10 q11.22 44850007 44863384 - 48045795 48059172 - 48425785 48439138 - 1580863;6480464 8679252;8670277;18949431;18077449;12477932;10844590;15174051;16385451;20237496;20734064;16344560 2662 P55107;Q8N6T2 AA018253;ABBA01000027;AK310360;AK315322;AL731561;AMYH01002505;BC028237;CH471251;D49492;D49493;DA165700;L42113;NM_004962 AAH28237;AAL77527;BAA08452;BAA08453;EAW50661;NP_004953;P55107 Hs.2171 1678161;1685055;1694488;1797572 GDF10_2025;RH121909;RH78115;RH80966 BMP-3b;BMP3B BIP;GDF-10;OTTHUMP00000019534;bone morphogenetic protein 3B;bone-inducing protein APPROVED protein-coding ENSG00000107623 4215 03218 601361 REVIEWED 1322500 GDF7 growth differentiation factor 7 This gene encodes a member of the bone morphogenetic protein (BMP) family. BMPs belong to the transforming growth factor-beta superfamily of secreted signalling molecules that regulate diverse processes in growth, repair and embryonic development. In mouse, this gene functions as an inductive signal from the roof plate required for the specification of neuronal identity in the dorsal spinal cord. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20728800 20733639 + 20729905 20734731 + 20866424 20871250 + 6480464;6907045 16049014;12741987;10022976;9808626;20102312;20237496;20339536;20677014;20734064;20334610;21702718 151449 Q75RY1;Q7Z4P5 AB158468;ABBA01018473;AC012065;AF522369;AMYH01010156;CH471053;NM_182828 AAI60118;AAP97720;BAD07014;EAX00811;NP_878248;Q7Z4P5 Hs.447688 BMP12 GDF-7;OTTHUMP00000115986;growth/differentiation factor 7 APPROVED protein-coding 4222 06873 604651 REVIEWED 1312703 GDAP1L1 ganglioside induced differentiation associated protein 1-like 1 The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012] 20 20 20 q12 39584533 39617621 + 42309322 42342427 + 42875739 42909557 + 6480464 15489334;14702039;12477932;11780052;11125086;8125298;17207965;22318606;15342556;16344560 78997 B7Z1I3;B7Z4H3;B7Z621;H0UIB3;H0Y6A7;Q5TE58;Q5TE61;Q96MZ0 ABBA01052635;AF123764;AF123765;AF277566;AI564068;AK056251;AK225166;AK293484;AK297348;AK299259;AK299700;AL035462;AL117382;AMYH01011932;BC000199;BC009014;BP307776;BU165271;BX423630;CH471077;CR749676;DA528340;NM_001256737;NM_001256738;NM_001256739;NM_001256740;NM_024034;NR_046353 AAH00199;AAH09014;AAM73515;AAP97243;AAP97244;ADQ32351;BAB71128;BAH11519;BAH12559;BAH12979;BAH13107;CAH18467;EAW75930;EAW75931;EAW75932;EAW75933;EAW75934;EAW75935;NP_001243666;NP_001243667;NP_001243668;NP_001243669;NP_076939;Q96MZ0 Hs.517059 1778091;2170667 D20S1054;RH12725 DKFZp761K228;dJ881L22.1;dJ995J12.1.1 GDAP1-L1;OTTHUMP00000031054;OTTHUMP00000031056;OTTHUMP00000031058;ganglioside-induced differentiation-associated protein 1-like 1 APPROVED protein-coding ENSG00000124194 4213 17033 REVIEWED 1344001 GDF15 growth differentiation factor 15 Bone morphogenetic proteins (e.g., BMP9; MIM 605120) are members of the transforming growth factor-beta (see TGFB1; MIM 190180) superfamily and regulate tissue differentiation and maintenance. They are synthesized as precursor molecules that are processed at a dibasic cleavage site to release C-terminal domains containing a characteristic motif of 7 conserved cysteines in the mature protein.[supplied by OMIM, Oct 2009] 19 19 p13.11 18357968 18360986 + 18496968 18499986 + 1580863;6480464 9326641;9348093;19505919;19505289;19401523;19375854;19302795;19168526;19152406;19133249;19125423;19100681;19074584;19047680;18824595;18801729;18754039;18676680;18657084;18550273;9426002;9375789;8125298;15073115;14726168;14662774;14575402;12941831;12900512;12894347;12855642;12624183;12514175;12477932;12139236;12090982;12082608;12011055;11994274;11895857;11445565;11278594;11259636;11141057;11134143;11102463;10811612;10777512;10524241;9593718;18398830;18359786;18264720;18029348;17982462;17909264;17908975;17721544;17637746;17548705;17328047;17050687;16775185;16741990;16699947;16484622;16397141;16388506;16286461;16154591;15900300;15757899;15677629;15670751;15342369;15316060;21809352;22511768;20854422;21245963;19913121;20385121;20628086;20215826;20966402;20357380;20431030;20800603;20855664;20576287;19170196;19341722;19357976;19470878;19515791;19521960;19625176;19692168;19695766;19946339;20024638;20031597;20104227;20130018;20160200;20167682;20193126;20237496;20534737;21336029;20860541;21097678;17192395;20975101;20884666;20937742;22160844;22505696;22872134;20067113;22180562;21535154;21548946;21586550;21487066;21504622;21503121;21616994;21803025;21437897;21475976;21865063;21906983;18624398;21312063;22144502;22384099;22064648;22023041;22301101;21645023;21881845;22365732;21773947;22723347;23328263;22231869;22975449;22815297;23262134;23335088;23154866;22341306;19060904;23071585 9518 Q99988 AB000584;ABBA01051260;ABBA01158935;AC008397;AF003934;AF008303;AF019770;AF173860;AK225431;AK291530;AMYH01009591;BC000529;BC008962;BT019465;CH471106;NM_004864;U51731;U88323 AAB88673;AAB88913;AAC24456;AAC39537;AAF89834;AAH00529;AAH08962;AAV38272;BAA19151;BAF84219;EAW84694;NP_004855;Q99988 Hs.616962 1793724;1858435 PMC26624P1;RH68131 GDF-15;MIC-1;MIC1;NAG-1;PDF;PLAB;PTGFB NRG-1;NSAID (nonsteroidal anti-inflammatory drug)-activated protein 1;NSAID-activated gene 1 protein;NSAID-regulated gene 1 protein;PTGF-beta;growth/differentiation factor 15;macrophage inhibitory cytokine 1;placental TGF-beta;placental bone morphogenetic protein;prostate differentiation factor APPROVED protein-coding ENSG00000130513 30142 05608 605312 VALIDATED 1353215 GDF2 growth differentiation factor 2 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system neurons. [provided by RefSeq, Jul 2008] 10 10 q11.22 48033098 48036859 - 48413092 48416853 - 1580863;6480464 15851468;22299030;17068149;19366699;19086053;18986983;18922975;18309101;17549388;17311849;15489334;12477932;11748585;10894782;10849432;22556408;22474252;16385451;19996292;20237496;20398908;20346360;20406889;20734064;23018639;21737454;21695154;22493445;21710321;22829878;22948234 2658 Q9UK05 ABBA01000027;AF156891;AF188285;AK314956;AL731561;AMYH01002505;BC069643;BC074921;CH471251;NM_016204 AAD40309;AAD56960;AAH69643;AAH74921;ABZ92149;ABZ92481;BAG37460;EAW50660;NP_057288;Q9UK05 Hs.279463 1797576 GDF2_330.2 BMP-9;BMP9 GDF-2;OTTHUMP00000019538;bone morphogenetic protein 9;growth/differentiation factor 2 APPROVED protein-coding ENSG00000128802 4217 05492 605120 REVIEWED 1352473 GDI2P1 GDP dissociation inhibitor 2 pseudogene 1 7 7 7 p12.3 49043023 49045203 - 48911776 48914247 - 48941422 48943599 - 9434952;16354680;16914728;15249583;11287630 2667 AACC02000077;ABBA01008187;AC004899;AC006024;AMYH01017236;CH236955;NG_001124;Y13298 GDI2P APPROVED pseudo 4228 INFERRED 1345464 GDF3 growth differentiation factor 3 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 9419392 9425368 - 7733648 7739627 - 7842381 7848360 - 1580863;6480464;7240710 16126341;18823971;18480259;16339188;15489334;12975309;12477932;10844590;9467948;8429021;19396148;19864492;20237496;20734064;20800603;21805089;22488170;22305102;23400010;22963770 9573 Q8NI58;Q9NR23 ABBA01012207;AC006927;AF110641;AF263538;AMYH01004216;AY358875;BC030959;CH471116;NG_028167;NM_020634 AAF91389;AAH30959;AAM27000;AAQ89234;ABM83587;ABM86827;EAW88659;NP_065685;Q9NR23 Hs.86232 1681632;1795906 GDF3_670;RH91884 KFS3;MCOP7;MCOPCB6 GDF-3;OTTHUMP00000238775;growth/differentiation factor 3 APPROVED protein-coding ENSG00000184344 4218 05938 606522;613702;613703;613704 REVIEWED 3207428 GDI2P2 GDP dissociation inhibitor 2 pseudogene 2 1 1 71029529 71030143 + 72740226 72740840 + 100420259 ABBA01074458;AL365362;AMYH01000709;NG_022783 1684282;2148188 174;RH80738 pseudo 37976 INFERRED 5686920 GDNF-AS1 GDNF antisense RNA 1 (head to head) 5 p13.2 37873527 37875901 + 16344560;22081608 100861519 ABBA01024193;AC008869;AMYH01015039;DA359107;JF824129;JF824130;JF824131;NM_001278094;NR_103441;NR_103442;XR_158787;XR_159441;XR_171495 AET79535;NP_001265023 Hs.536820 GDNFOS GDNF opposite strand APPROVED protein-coding ENSG00000248587 43592 VALIDATED 1347722 GDF6 growth differentiation factor 6 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008] 8 8 q22.1 97223734 97242196 - 97154558 97173020 - 6480464;6907045;7240710 16049014;19240811;19129173;18716610;18425797;17236135;15489334;15246821;12606286;12477932;12027540;10448738;10022976;9525338;9218508;9057810;8145850;7961761;20057906;20494911;19492402;20734064;20334610;933127;21702718;22049084 392255 A0PK23;Q6KF10 ABBA01037490;AJ537424;AMYH01018906;AMYH01018907;AP003465;BC043222;BC127947;BC127948;CH471060;NG_008981;NM_001001557 AAH43222;AAI27948;AAI27949;AAI56446;CAD60934;EAW91747;NP_001001557;Q6KF10 Hs.492277 1714237 RH119897 BMP13;CDMP2;KFM;KFS;KFS1;KFSL;LCA17;MCOP4;MCOPCB6;MGC158100;MGC158101;SCDO4;SGM1 GDF-6;Klip-Feil malformation;Klippel-Feil malformation;Klippel-Feil syndrome;OTTHUMP00000227272;growth/differentiation factor 16;growth/differentiation factor 6 APPROVED protein-coding ENSG00000156466 4221 11002 118100;601147;613094;613703;615360 REVIEWED 1345266 GDF5 growth differentiation factor 5 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq, Jul 2008] 20 20 q11.2 33484563 33489441 - 34021149 34026027 - 1580863;6480464;6907045;7240710 8589725;9288098;7961761;19479880;19453261;19229295;19058174;19054821;19038017;19029166;19023570;18979166;18947434;18830904;18697781;18629880;18391952;18391951;18391950;18299287;18283415;18203755;18193045;18075819;17989347;17676627;17616513;17384641;16716349;16532400;16508114;16499717;16127465;16014698;15569154;15489334;14973287;14735582;14660436;12707774;12543931;12477932;12357473;12124730;12121354;11780052;11282024;10844590;10512744;9525338;9451821;9288091;9057810;8702914;8661040;7980526;22615457;17602228;19393216;19565498;19652338;19754961;19782107;19956691;20170953;20189936;20237151;20237496;20360039;20683927;20939878;20546612;20633687;21360499;20870806;22905146;21697133;21543859;23423687;19874419;21642387;21976273;9950587;19805454;23121099;23226264;21936909;21270694;20881960;22284607 8200 P43026;Q2NKW7 A43194;A60247;AB019005;AB593125;ABBA01019160;AL121586;AMYH01011874;BC032495;BC111566;BC111859;CH471077;CS025628;CS406372;CS447086;CS453909;CS715846;GM000454;GM014136;GM709269;GN042430;NG_008076;NM_000557;U13660;X80915 AAA57007;AAH32495;AAI11567;AAI11860;ACE87521;ADR82729;BAA86941;BAJ84065;CAA02710;CAA03553;CAA56874;CAB89416;CAI61691;CAL40861;CAL69822;CAL85395;CAP40148;CAS92879;CAT68524;CAT82626;CAX48923;EAW76208;EAW76209;NP_000548;P43026 Hs.1573 1795908;1801012;1802436;1803030;1831964;1836736;1837438;1840696;1855973;1973648;1973650;1973652;1973654;1973656;1973658;1973660;1973662;1973664;1973666;1973668;1973670;1973672;1973674;1973676;1973678;1973680;1973682;1973684;1973686;1973688;1973690;1973692;1973694;1973696;1973698;1973700;1973702;1973704;1973706;1973708;2134063;2215258;2215260;2215262;2215264;2215266;2215268 ECD01372;ECD02103;ECD02406;ECD17120;ECD19532;ECD19886;ECD21539;GDF5_1655;REN57710;REN57711;REN57712;REN57713;REN57714;REN57715;REN57716;REN57717;REN57718;REN57719;REN57720;REN57721;REN57722;REN57723;REN57724;REN57725;REN57726;REN57727;REN57728;REN57729;REN57730;REN57731;REN57732;REN57733;REN57734;REN57735;REN57736;REN57737;REN57738;REN57739;REN57740;RH64109;WI-9365;stSG636617;stSG636618;stSG636619;stSG636620;stSG636621;stSG636622 BDA1C;BMP14;CDMP1;LAP4;OS5;SYM1B;SYNS2 CDMP-1;GDF-5;OTTHUMP00000030755;OTTHUMP00000061644;cartilage-derived morphogenetic protein 1;cartilage-derived morphogenetic protein-1;growth/differentiation factor 5;radotermin APPROVED protein-coding ENSG00000125965 4220 03092 112600;113100;185800;200700;201250;228900;601146;610017;612400;615072;615298 REVIEWED 736579 GDF9 growth differentiation factor 9 Growth factors synthesized by ovarian somatic cells directly affect oocyte growth and function. Growth differentiation factor-9 (GDF9) is expressed in oocytes and is thought to be required for ovarian folliculogenesis. GDF9 is a member of the transforming growth factor-beta superfamily. [provided by RefSeq, Jul 2008] 5 5 q31.1 132224777 132228376 - 132196878 132200477 - 1580863;6480464 21496799;8849725;7760846;19366876;19111296;18854109;18162287;18006624;17482612;17453295;17156781;17027369;16954162;16645022;16344560;16278619;16169070;15489334;15383276;15372022;14970198;12477932;12446716;12135884;10712517;10443672;8429021;19376510;19438907;19505950;19846738;20067794;20236105;20237496;20451184;19931079;20547206;20458753;20427239;20705511;20734064;20660033;23060562;21042764;21226076;21116689;21632818;23011157;21669410;12050262;21829661;21900206;22234469;22159313;23382188 2661 O60383 ABBA01068795;AC004500;AK301962;AK315973;AMYH01015617;BC096228;BC096229;BC096230;BC096231;BX117145;CA488820;CH471062;DB320693;NM_005260 AAC08450;AAH96228;AAH96229;AAH96230;AAH96231;BAG63375;BAH14344;EAW62309;NP_005251;O60383 Hs.25022 1804486;1804936;1805996;1809956;1810678;1840146;2002152;2002154;2002156;2002158;2002160;2002162;2002164;2002166;2002168;2002170;2002172;2002174;2002176;2002178;2002180;2002182;2002184;2002186;2002188;2002190;2002192;2002194;2002196;2002198;2002200;2002202;2002204;2096568;2096570;2096572;2096574;2113550;2145146 ECD03168;ECD03404;ECD03951;ECD05970;ECD06333;ECD21257;GDF9_V237;REN71988;REN71989;REN71990;REN71991;REN71992;REN71993;REN71994;REN71995;REN71996;REN71997;REN71998;REN71999;REN72000;REN72001;REN72002;REN72003;REN72004;REN72005;REN72006;REN72007;REN72008;REN72009;REN72010;REN72011;REN72012;REN72013;REN72014;WI-21813;stSG601579;stSG601580;stSG601581;stSG601582 GDF-9;OTTHUMP00000066213;growth/differentiation factor 9 APPROVED protein-coding ENSG00000164404 4224 03560 601918 REVIEWED 1602967 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 11 11 11 q13.5 74235230 74306103 - 76605251 76676111 - 76927603 76998463 - 6480464 220032 Q6W3E5 ABBA01017437;ABBA01017438;AMYH01003823;AP001855;AP002827;AY313782;AY326450;CH471076;NM_182833 AAI60091;AAP92403;AAQ72549;EAW75024;EAW75025;NP_878253;Q6W3E5 Hs.249795 1336531;1662085;1728707;1762623 D11S4186;G63725;RH65478;SHGC-146429 GDE6 GDPD domain containing protein;OTTHUMP00000228565;OTTHUMP00000228566;glycerophosphodiester phosphodiesterase 6;glycerophosphodiester phosphodiesterase domain-containing protein 4;ugpQ protein-coding ENSG00000178795 24849 17320 PROVISIONAL 1346004 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X X q13.1 69996203 70006563 + 69559716 69569956 + 69642881 69653241 + 737633;1580863;6480464 12477932 15772651;15489334;14702039;12975309;12933806;16169070;16344560;19596859;18029348 54857 Q9HCC8 AB048363;ABBA01067571;AI277430;AK000214;AK097293;AK299255;AK301025;AK307778;AK310090;AK316035;AL139398;AMYH01022528;AY358986;BC032009;CH471132;DA934769;NG_016413;NM_001171191;NM_001171192;NM_001171193;NM_017711 AAH32009;AAQ89345;ACT64459;ACT64460;BAA91014;BAB13350;BAG53448;BAG61286;BAG62641;BAH14406;EAX05339;EAX05340;NP_001164662;NP_001164663;NP_001164664;NP_060181;Q9HCC8 Hs.438712 1855700;2109343;2191291 GDPD2_9836;MARC_17127-17128:1021042642:1;WI-16297 FLJ20207;GDE3;OBDPF OTTHUMP00000023474;glycerophosphodiester phosphodiesterase 3;glycerophosphodiester phosphodiesterase domain-containing protein 2;glycerophosphoinositol inositolphosphodiesterase GDPD2;osteoblast differentiation promoting factor APPROVED protein-coding ENSG00000130055 25974 06528 REVIEWED 735823 GDNF glial cell derived neurotrophic factor This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene may be associated with Hirschsprung disease. [provided by RefSeq, Jun 2010] 5 5 p13.1-p12 37851510 37875539 - 37812779 37839782 - 704404;1580863;2324925;2324932;6218968;6480464;6218977;6218983;6218965;6218970;6218978;5688774;5688775;5686884;5688777;6218962;7240710 18652760;18501516;16644101;10852218;9853108;19162016;15144875;10447463;22342994;22281106;22186119;22081608;21865882 22251670;8493557;8988018;12358785;7830769;8637574;15242795;9811930;19282698;19240061;19188437;19184120;19183406;19086053;18970938;18845535;18454440;18353777;18343820;18313696;18222320;18081024;18060868;17935603;17897812;17522305;17490619;17470563;17298301;17192954;17023388;17009072;16895582;16820412;16569669;16497298;16125842;16081799;15870700;15817265;15708562;15489334;15211107;15207271;15106825;15003293;12947332;12837245;12477932;12414995;12397373;11973622;11932334;11900567;11844483;11844480;11842239;11823451;11790765;11756008;11732574;11600185;11588183;11565554;10917288;10829012;10809797;10366742;9853901;9497256;9482105;9407096;9359036;9098026;8968758;8896568;8674117;8522325;7867768;7830766;7490108;8896569;22326552;21145461;23022671;20677014;20739562;20479525;20448065;20700745;11181995;19561646;19562947;19584438;19664536;19741036;19825405;19896648;20125088;20237496;8657307;20538960;9808338;20601681;20518854;22670840;21200028;20544825;20936708;21227937;20422010;20960036;17229286;21490379;21524799;21515689;22019719;21738758;23269553;21726557;22142702;21514351;10921886;20426902;21769916;21858136;21994944;21621608;22002662;20301600;21820487;21839809;20301715;22847529;22971345;20301612 2668 AAB33493;AAB33494;Q9UD33 ABBA01024193;AC008869;AF053748;AF053749;AF063586;AJ001896;AJ001897;AJ001898;AJ001899;AJ001900;AMYH01015038;AY052832;BC008580;BC069119;BC069369;BC128108;BC128109;CH471119;CR541923;DQ235474;HI949612;L19063;NG_011675;NM_000514;NM_001190468;NM_001190469;NM_001278098;NM_199231 AAA67910;AAB33493;AAB33494;AAC98782;AAD43139;AAH08580;AAH69119;AAH69369;AAI28109;AAI28110;AAL11017;CAA05074;CAA05075;CAA05076;CAA05077;CAA05078;CAG46721;CBY79817;EAW55963;EAW55964;NP_000505;NP_001177397;NP_001177398;NP_001265027;NP_954701;P39905 Hs.248114 1341555;1728999;1764605;2165302;2217362;5022651 D11S2921;D5S2021;GDNF_3150;Gdnf;RH70036;SHGC-148195 ATF1;ATF2;HFB1-GDNF;HSCR3 ATF;OTTHUMP00000116024;OTTHUMP00000116025;OTTHUMP00000221304;OTTHUMP00000221305;OTTHUMP00000221306;OTTHUMP00000221307;astrocyte-derived trophic factor;glial cell line derived neurotrophic factor;glial cell line-derived neurotrophic factor;hGDNF APPROVED protein-coding ENSG00000168621 4232 02906 171300;209880;600837;613711 REVIEWED 731728 GDI1 GDP dissociation inhibitor 1 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. [provided by RefSeq, Jul 2008] X X q28 153318715 153325008 + 153665259 153671814 + 1580863;704404;6480464;7240710 17568003;8248200;15592455;15489336;15489334;15480879;15292224;14702039;12802062;12777533;12477932;12198156;11809807;16344560;15647276;11583574;11256614;11076863;10751420;9674910;9668174;9620768;9490022;9106537;8836150;8826463;8733135;8491184;8281148;8175798;7849400;7744738;7585614;7513052;2115118;1286667;11741295;17353931;7543319;18487148;16713569;16596196;16381901;16368544;19570034;20381070;21736009;15166316;19996123;20562859;22939629;21145461;21319273;18255255;22863883;22586326;21565611;21963094;21987572;22053931;23000965;23140504;22002931;21139048;21890473;21900206;21906983;22114354;22505724 2664 F8WCU0;F8WE59;G5E9U5;P31150 AB101741;AB101742;AB101743;AB101744;AB101745;AB101746;AB101747;AB101748;AB101749;AB101750;AB101751;AB101752;AB101753;AB101754;AB101755;AB101756;AB101757;AB101758;AB101759;AB101760;AB101771;AB101772;AB101773;AB101774;AB101775;AB101776;AB101777;AB101778;AB101779;AB101780;AB101781;AB101782;AB101783;AB101784;AB101785;AB101786;AB101787;AB101788;AB101789;AB101790;AB101801;AB101802;AB101803;AB101804;AB101805;AB101806;AB101807;AB101808;AB101809;AB101810;AB101811;AB101812;AB101813;AB101814;AB101815;AB101816;AB101817;AB101818;AB101819;AB101820;AB101831;AB101832;AB101833;AB101834;AB101835;AB101836;AB101837;AB101838;AB101839;AB101840;AB101841;AB101842;AB101843;AB101844;AB101845;AB101846;AB101847;AB101848;AB101849;AB101850;AB102647;ABBA01045282;ABBA01045283;ABBA01045284;ABBA01045285;ABBA01045286;ABBA01045287;AC244090;AF400433;AK090746;AK123405;AK131466;AK294893;AK295306;AK303248;AL833629;AMYH01023316;BC000317;BC012201;BT019884;BX936385;CH471172;CR542258;CR542276;D45021;DA133083;DB005169;EF212243;EF212248;L05086;L44140;NG_008954;NM_001493;U14623;X74608;X79353;X79354;X87194 AAA21558;AAA92648;AAC15851;AAH00317;AAH12201;AAK92482;AAV38687;ABM82975;ABM86169;ABM87842;BAA08078;BAC80330;BAC80331;BAC80332;BAC80333;BAC80334;BAC80335;BAC80336;BAC80337;BAC80338;BAC80339;BAC80340;BAC80341;BAC80342;BAC80343;BAC80344;BAC80345;BAC80346;BAC80347;BAC80348;BAC80349;BAC80360;BAC80361;BAC80362;BAC80363;BAC80364;BAC80365;BAC80366;BAC80367;BAC80368;BAC80369;BAC80370;BAC80371;BAC80372;BAC80373;BAC80374;BAC80375;BAC80376;BAC80377;BAC80378;BAC80379;BAC80390;BAC80391;BAC80392;BAC80393;BAC80394;BAC80395;BAC80396;BAC80397;BAC80398;BAC80399;BAC80400;BAC80401;BAC80402;BAC80403;BAC80404;BAC80405;BAC80406;BAC80407;BAC80408;BAC80409;BAC80420;BAC80421;BAC80422;BAC80423;BAC80424;BAC80425;BAC80426;BAC80427;BAC80428;BAC80429;BAC80430;BAC80431;BAC80432;BAC80433;BAC80434;BAC80435;BAC80436;BAC80437;BAC80438;BAC80439;BAC81116;BAG57985;BAG58286;BAG64332;CAA55908;CAA55909;CAG47054;CAG47072;CAL37538;CAL38104;CAL38477;EAW72709;EAW72710;EAW72711;NP_001484;P31150 Hs.595950;Hs.74576 1647559;1657750;1667649;1702278;1703114;1744617;1748025;1748027;1748063;1748065;1748067;1748071;1787972;1787974;1787976;1787978;1800854;1803456;1803870;1805268;1806180;1806942;1807752;1807754;1808018;1808240;1810544;1811224;1811570;1812090;1812364;1812434;1812436;1812628;1813012;1813168;1813728;1813966;1825204;1831038;1832566;1833682;1838744;1839912;1844382;2036908;2036912;2036916;2036918;2036920;2036922;2036924;2036926;2036930;2036932;2036934;2036936;2036938;2036940;2036942;2036944;2036946;2036948;2036952;2036956;2036958;2036960;2036962;2036964;2036966;2036968;2036972;2036974;2036976;2036978;2036980;2036982;2036984;2036986;2036988;2036990;2036992;2036994;2037002;2037004;2037006;2037008;2037010;2037012;2037014;2037016;2037018;2037022;2037024;2037026;2037038;2037040;2037042;2037044;2037048;2037050;2037052;2037054;2037056;2037058;2037060;2037064;2037068;2037070;2037072;2037074;2037076;2037078;2037082;2037084;2037086;2037088;2037090;2037092;2037094;2037096;2037098;2037100;2037102;2037104;2037106;2037108;2037110;2037112;2037114;2037116;2037118;2037120;2037122;2037124;2037126;2037128;2037130;2037132;2037134;2037136;2037138;2037140;2037142;2037144;2037146;2037148;2037150;2037152;2037154;2037156;2037158;2037160;2037162;2037164;2037166;2037168;2037170;2102520;2102524;2102526;2102528;2102530;2102532;2102538;2102540;2102542;2102544;2102546;2102548;2106697;2107147;2159883;2176605;2178179;2190599;2219020;5019917 ATP6AP1__4395;DXS7010E;DXS7587;ECD01292;ECD02625;ECD02847;ECD03579;ECD04044;ECD04436;ECD04849;ECD04850;ECD04987;ECD05101;ECD06265;ECD06610;ECD06788;ECD07050;ECD07189;ECD07224;ECD07225;ECD07324;ECD07523;ECD07603;ECD07887;ECD08010;ECD13703;ECD16655;ECD17423;ECD17986;ECD20550;ECD21139;ECD23405;G54832;G65808;G65809;G65811;G65814;G65817;G65818;G67208;G67209;G67210;G67211;GDB:548776;GDI1;GDI1__6799;REN89465;REN89467;REN89469;REN89470;REN89471;REN89472;REN89473;REN89474;REN89476;REN89477;REN89478;REN89479;REN89480;REN89481;REN89482;REN89483;REN89484;REN89485;REN89487;REN89489;REN89490;REN89491;REN89492;REN89493;REN89494;REN89495;REN89497;REN89498;REN89499;REN89500;REN89501;REN89502;REN89503;REN89504;REN89505;REN89506;REN89507;REN89508;REN89512;REN89513;REN89514;REN89515;REN89516;REN89517;REN89518;REN89519;REN89520;REN89522;REN89523;REN89524;REN89530;REN89531;REN89532;REN89533;REN89535;REN89536;REN89537;REN89538;REN89539;REN89540;REN89541;REN89543;REN89545;REN89546;REN89547;REN89548;REN89549;REN89550;REN89552;REN89553;REN89554;REN89555;REN89556;REN89557;REN89558;REN89559;REN89560;REN89561;REN89562;REN89563;REN89564;REN89565;REN89566;REN89567;REN89568;REN89569;REN89570;REN89571;REN89572;REN89573;REN89574;REN89575;REN89576;REN89577;REN89578;REN89579;REN89580;REN89581;REN89582;REN89583;REN89584;REN89585;REN89586;REN89587;REN89588;REN89589;REN89590;REN89591;REN89592;REN89593;REN89594;REN89595;REN89596;RH68908;RH77733;SGC32232;STS-M78866;TAZ__5218;WI-9327;sWXD2362;stSG604031;stSG604033;stSG604034;stSG604035;stSG604036;stSG604037;stSG604044;stSG604045;stSG604046;stSG604051;stSG604052;stSG604053 1A;FLJ41411;GDIL;MRX41;MRX48;OPHN2;RABGD1A;RABGDIA;XAP-4 GDI-1;OTTHUMP00000032118;guanosine diphosphate dissociation inhibitor 1;mental retardation, X-linked 41;mental retardation, X-linked 48;oligophrenin-2;protein XAP-4;rab GDI alpha;rab GDP dissociation inhibitor alpha;rab GDP-dissociation inhibitor, alpha APPROVED protein-coding ENSG00000203879 4226 02114 300104;300849 REVIEWED 1346683 GDI2 GDP dissociation inhibitor 2 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 10 10 p15 5847192 5895379 - 5807186 5855512 - 1580863;6480464 7543319;16130169;12493773;17507299;16344560;15489334;14702039;12477932;11771757;10996854;10512627;9434952;8575461;7929030;7585614;7513052;11809807;16385451;20562859;22863883;23184937;22939629;18781797;20360068;21139048;21890473;21906983;21963094;21987572;19135240;22586326;16009940;19322201;21628590;22053931;22505724;19570034 2665 E7EU23;P50395;Q5SX86;Q5SX87;Q5SX90;Q5SX91;Q6IAT1 AB451295;AB451429;ABBA01034771;AF144713;AK094671;AK122841;AK297177;AK297554;AK309360;AK312485;AL596094;AMYH01002002;BC005145;BC024168;BT006868;BX648038;CH471072;CR457073;D13988;DA069966;NM_001115156;NM_001494;Y13286;Y13287 AAD34588;AAH05145;AAH24168;AAP35514;ABM84659;ABM92190;BAA03095;BAG35388;BAG53755;BAG59669;BAG59947;BAG70109;BAG70243;CAA73734;CAA73735;CAG33354;EAW86430;EAW86431;EAW86432;NP_001108628;NP_001485;P50395 Hs.299055 1653746;1684282;1694436;1771783;2119626;2148188;2172712 174;D12S1392E;G42923;RH11041;RH44646;RH69293;RH80738 FLJ16452;FLJ37352;RABGDIB GDI-2;OTTHUMP00000019010;OTTHUMP00000019011;OTTHUMP00000019014;guanosine diphosphate dissociation inhibitor 2;rab GDI beta;rab GDP dissociation inhibitor beta;rab GDP-dissociation inhibitor, beta APPROVED protein-coding ENSG00000057608 4227 02863 600767 REVIEWED 1601852 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 16 16 16 p11.2 72671173 72679590 + 30023632 30032379 - 30116131 30124878 - 6480464 21145461;15489334;14702039;12477932 79153 H3BMN9;H3BPX3;Q7L5L3 ABBA01013103;ABBA01013104;AC012645;AK026256;AK225450;AMYH01007497;BC002714;CH471238;NM_024307 AAH02714;BAB15414;EAW79918;EAW79919;EAW79920;NP_077283;Q7L5L3 Hs.289015 1662843;1672220;1684726;1687037;1797848 G15873;MAPK3_2268;RH77963;SHGC-34253;SHGC-61070 FLJ22603;MGC4171 OTTHUMP00000162982;glycerophosphodiester phosphodiesterase domain-containing protein 3 protein-coding 28638 08330 VALIDATED 1349545 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 17 17 17 q22 53760671 53816151 + 54652616 54706655 + 57297828 57353331 + 1580863;6480464 18991142;15489334;14702039;14612981;12477932;17690467;21139048;21890473;21906983 284161 J3KTA9;J3QQN7;J3QRR6;Q8N9F7 ABBA01041366;ABBA01041367;ABBA01041368;ABBA01041369;ABBA01041370;AC091059;AC099850;AI478202;AK094770;AK131013;AMYH01008517;AY271346;BC034432;CH471109;EU192951;NM_001165993;NM_001165994;NM_182569 AAH34432;AAQ01751;ABW73991;BAC04419;EAW94411;EAW94412;NP_001159465;NP_001159466;NP_872375;Q8N9F7 Hs.631744 5015619;5016596;5021872;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D8S2279;GDB:631802;L18426;sY3084 FLJ27503;FLJ37451;GDE4;MGC35046;UGPQ glycerophosphodiester phosphodiesterase 4;glycerophosphodiester phosphodiesterase domain-containing protein 1 APPROVED protein-coding ENSG00000153982 20883 08223 REVIEWED 1605191 GDPGP1 GDP-D-glucose phosphorylase 1 15 15 15 q26.1 67181866 67189691 + 88578491 88586316 + 90777487 90785312 + 12477932;21507950;21139048;19322201 390637 H0YL31;H0YN11;Q6ZNW5 ABBA01053049;AC091167;AK130527;AMYH01006921;BC127821;BX440248;CH471101;NM_001013657 AAI27822;AAI48395;AAI53018;BAC85370;EAX02091;EAX02092;NP_001013679;Q6ZNW5 Hs.304673 C15orf58;VTC2 GDP-D-Glucose phosphorylase;GDP-D-glucose phosphorylase 1;GDP-D-glucose phosphorylase C15orf58;hypothetical protein LOC390637 APPROVED protein-coding ENSG00000183208 34360 18400 VALIDATED 1604590 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010] 11 11 11 q13.4-q13.5 72453433 72544371 - 74823334 74914515 - 75145685 75236599 - 6480464 17578682;16303743;16195461;15498874;15489334;14702039;12975309;12477932;17275818;18667693;22279038 81544 E9PJU5;H0YEF5;Q8NDN3;Q8WTR4 ABBA01017463;ABBA01017464;ABBA01017465;AF217989;AF289614;AF318351;AF318377;AF451987;AK074848;AK091658;AK098808;AK310490;AL833941;AMYH01003817;AP002815;AY358477;BC018771;BC020203;BC029416;BC033391;BC090053;CH471076;NM_030792 AAG17232;AAH18771;AAH20203;AAH29416;AAH33391;AAL55798;AAL55858;AAL55884;AAP97686;AAQ88841;ABM83369;ABW03322;BAC05418;BAC11242;CAD38796;EAW74967;EAW74968;EAW74969;EAW74970;EAW74971;EAW74972;NP_110419;Q8WTR4 Hs.503297 1336294;1340459;1341047;1659099;1678855;1713769;1738229;1774421;2113974;2125445;2131089 A002S07;AB046041;AFMa135xf9;D11S1030;D11S1291;D11S1902;D11S3866;D11S4081;D11S534;NIB1729;RH120771 GDE2;PP1665 OTTHUMP00000229938;OTTHUMP00000229939;OTTHUMP00000229940;glycerophosphodiester phosphodiesterase 2;glycerophosphodiester phosphodiesterase domain-containing protein 5 APPROVED protein-coding ENSG00000158555 28804 15159 609632 VALIDATED 1316557 GEM GTP binding protein overexpressed in skeletal muscle The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 8 8 q13-q21 95330657 95343733 - 95261481 95274547 - 1580863;6480464 7912851;17107948;17052716;16242932;15489334;12477932;11956230;11395774;9115241;8825643;7809057;12093360;16189514;14701738;16344560;19060904;20233927;18624398;22589533;21988832;22964304 2669 E5RJF9;P55040 ABBA01037452;AK314017;AMYH01018886;AP003478;BC022010;BI759640;CH471060;DB018783;NM_005261;NM_181702;U10550;U13052 AAA64911;AAC50067;AAH22010;ABM81747;ABM84902;BAG36728;EAW91709;EAW91710;NP_005252;NP_859053;P55040 Hs.654463 1722385;1735834;1795910;1857256;2126385;2176948 D8S1433E;D8S1607;G60265;GEM_100;RH17992;WI-21164 KIR;MGC26294 GTP-binding mitogen-induced T-cell protein;GTP-binding protein GEM;GTP-binding protein overexpressed in skeletal muscle;OTTHUMP00000226600;OTTHUMP00000226601;RAS-like protein KIR;kinase-inducible Ras-like protein APPROVED protein-coding ENSG00000164949 4234 11553 600164 REVIEWED 1351557 GEMIN2 gem (nuclear organelle) associated protein 2 This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011] 14 14 q13 38653239 38675928 + 39583488 39606177 + 1580863;6480464 9323129;11714716;15130578;9323130;10531003;18247312;17308308;16731905;15964810;15489334;14697339;12477932;12065586;11943600;11748230;11713266;11522829;11389857;11181573;11149922;11135666;11092763;10942426;10909848;10725331;10601333;9447963;9295360;11509230;12668731;17353931;12714599;21300694;22607171;19830559;20098747;20515682;11914277;19381684;19806322;19915660;21732698;11121410;20403813;18984161;23221635;21816274;19928837;21565611;22678362;21900206;21913013;20301526;19322201;19750561;21972558;21994574;22190034 8487 G5EA29;H0YCF4;H0YDP6;H0YEL0;O14893 AB037701;AB037702;AB037703;ABBA01061546;ABBA01061547;ABBA01061548;AF027150;AJ250932;AJ250939;AK313947;AL109628;AMYH01005682;BC028095;BC104968;CH471078;CN484054;NG_016643;NM_001009182;NM_001009183;NM_003616 AAB82297;AAI04969;BAB03508;BAB03509;BAB03510;BAG36665;CAC16117;CAC16171;EAW65825;EAW65826;EAW65827;EAW65828;EAW65829;EAW65830;NP_001009182;NP_001009183;NP_003607;O14893 Hs.652307 1663942;1770425;2186941 G36130;RH69377;STS-N26026 SIP1;SIP1-delta OTTHUMP00000178874;OTTHUMP00000200374;OTTHUMP00000200375;OTTHUMP00000231929;OTTHUMP00000231930;SMN interacting protein 1-delta;component of gems 2;gem-associated protein 2;gemin-2;survival of motor neuron protein interacting protein 1;survival of motor neuron protein-interacting protein 1 APPROVED protein-coding ENSG00000092208 10884 03999 602595 REVIEWED 3436550 GEMIN8P2 gem (nuclear organelle) associated protein 8 pseudogene 2 16 16 16 q21 43311032 43312052 + 57367945 57368968 + 58810444 58811464 + 644600 ABBA01025316;AC012183;AMYH01007718;NG_022523 pseudo 37977 INFERRED 1350190 GEMIN8P1 gem (nuclear organelle) associated protein 8 pseudogene 1 15 15 15 q23 46984635 46985662 - 67882708 67889043 - 70095454 70096481 - 100128431 ABBA01038766;AC021818;AMYH01006743;NG_009513 2180544 AFMA052VG5 FAM51A2P;GEMIN8P APPROVED pseudo 31818 INFERRED 2881092 GEMIN8P3 gem (nuclear organelle) associated protein 8 pseudogene 3 X X 85798928 85799648 + 85559370 85560090 + 100421535 ABBA01051771;AMYH01022666;NG_022678;Z95124 pseudo 37978 INFERRED 1344278 GEMIN4 gem (nuclear organelle) associated protein 4 The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 p13 594411 602251 - 647661 655501 - 1580863;6480464 11714716;10725331;15130578;10531003;19138993;19047128;18675250;16301532;14603441;12869526;12668731;12477932;12065586;11748230;11713266;11642406;11522829;11230166;11149922;14970384;11914277;10942426;11509230;17353931;22506892;22586326;20585341;20721975;19596235;19851984;20211803;20231361;20562859;20696395;20732906;20819778;22990118;23221635;19928837;19471022;21139048;21890473;21906983;21987572;21628590;12549820;22053931;22190034;22505724;22952844 50628 E7EN12;I3L1J7;I3L2C7;I3L399;I3L4A4;I3L4M4;P57678;Q8WUM5 ABBA01054619;AC087392;AF173856;AF177341;AF258545;AK302722;AL080150;AL080167;AMYH01007979;BC020062;BC032084;BC036024;CH471108;DB455185;NM_015721 AAF35283;AAG17985;AAG24546;AAH20062;ACE87641;BAG63941;CAB45743;CAB45755;EAW90653;EAW90654;NP_056536;P57678 Hs.499620 1680960;1736923 D17S1569;RH75762 DKFZp434B131;DKFZp434D174;HC56;HCAP1;HHRF-1;p97 HCC-associated protein 1;component of gems 4;gem-associated protein 4;gemin-4 APPROVED protein-coding ENSG00000179409 15717 07370 606969 REVIEWED 1322484 GEMIN6 gem (nuclear organelle) associated protein 6 GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002] 2 2 2 p22.1 38846359 38850136 + 38858831 38862611 + 39005327 39009107 + 6480464 11748230;15130578;10531003;17023415;15815621;15489334;14702039;12477932;12065586;16189514;15939020;15848170;19596235;23221635;19928837;21139048;21890473;21906983;19322201;22190034 79833 B8ZZ85;B9A037;Q8WXD5 ABBA01075019;AC018693;AF453443;AK027112;AK315627;AMYH01010269;BC018195;BC029584;BM471707;CH471053;NM_024775 AAH18195;AAL48292;AAY24255;BAB15660;BAG37995;EAX00360;EAX00361;NP_079051;Q8WXD5 Hs.143818 FLJ23459 OTTHUMP00000158740;SIP2;gem-associated protein 6;gemin 6;gemin-6 APPROVED protein-coding 20044 06110 607006 VALIDATED 3051268 GEMIN8P4 gem (nuclear organelle) associated protein 8 pseudogene 4 1 1 1 p22 88704516 88706217 - 90231412 90233113 - 90458824 90460525 - 12477932 492303 ABBA01045584;AL391497;AMYH01000780;AY726571;BC009550;BC041038;BC053364;NR_002830 Hs.550796 1687007 RH69517 pseudo 37979 PROVISIONAL 1321352 GEMIN5 gem (nuclear organelle) associated protein 5 This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 5 5 q33.2 154247169 154297964 - 154266976 154317776 - 1580863;6480464 11714716;16857593;15130578;10531003;19377484;18245461;17640873;17640370;17541429;17081983;16964243;16344560;15489334;15302935;14702039;12477932;12065586;11914277;21145461;16739988;19750007;20085707;20513430;22863883;22990118;23221635;23182705;22939629;18029348;17381311;21139048;21906983;18781797;22586326 25929 B7ZLC9;Q58EZ8;Q8TEQ6 ABBA01026217;ABBA01026218;AC008421;AK022748;AK074066;AK315101;AL117665;AMYH01015730;AMYH01015731;AY063750;BC008776;BC014147;BC036894;BC040931;BC113614;BC143724;BX329222;CH471062;DA328736;DA400244;NM_001252156;NM_015465 AAH08776;AAH14147;AAH36894;AAI13615;AAI43725;AAL38980;BAB14222;BAB84892;CAB56035;EAW61623;EAW61624;NP_001239085;NP_056280;Q8TEQ6 Hs.483921 1671705;1698506;1754723;2130847;2136452 L31480;RH102803;RH47000;SHGC-133084;SHGC-64126 DKFZp586M1824;GEMIN-5;MGC142174 OTTHUMP00000160692;gem-associated protein 5;gemin 5 APPROVED protein-coding ENSG00000082516 20043 06109 607005 REVIEWED 1354242 GEMIN7 gem (nuclear organelle) associated protein 7 The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 42386805 42399066 + 50274358 50286622 + 45582518 45594782 + 1580863;6480464 12065586;15130578;10531003;17023415;16169070;16159890;15489334;14702039;12477932;16189514;11748230;15848170;16712791;23221635;19928837;21139048;21900206;22190034 79760 Q9H840 ABBA01040910;ABBA01040911;AC011489;AK024018;AMYH01009848;AY114106;BC007793;BU602037;CB148876;CH471126;CR457321;NM_001007269;NM_001007270;NM_024707;W35331 AAH07793;AAM44083;BAB14780;CAG33602;EAW57321;NP_001007270;NP_001007271;NP_078983;Q9H840 Hs.466919 1769204;1784426;1851162;2107149 G31107;GEMIN7__6800;SHGC-112;SHGC-132042 SIP3 gem-associated protein 7;gemin 7;gemin-7 APPROVED protein-coding ENSG00000142252 20045 07600 607419 REVIEWED 1606393 GEN1 GEN1 Holliday junction 5' flap endonuclease 2 2 2 p24.2 17815464 17846898 + 17798658 17826911 + 17935177 17966632 + 6480464 19020614;15576351;14702039;12477932;20040574;20379614;20512659;20634321;20610542;20800603;21890473;23166748 348654 E9PLG0;E9PM30;H0YCG6;Q17RS7 ABBA01018508;AC093731;AC097377;AK025489;AK093631;AK098188;AK131387;AMYH01010143;BC035863;BC038243;BC117204;BC117206;BX490061;CH471053;CR936783;NM_001130009;NM_182625 AAI17205;AAI17207;ADR83431;BAC05254;BAD18538;EAX00865;NP_001123481;NP_872431;Q17RS7 Hs.467793 2118497;5020635;5022578;5024035;5037552;5112189 D13S116;D1S1423;D7S3207;D8S2279;RH102267;RH12036 DKFZp781F0986;FLJ36312;FLJ40869;Gen Gen endonuclease homolog 1;Gen homolog 1, endonuclease;Holliday junction resolvase;OTTHUMP00000149987;flap endonuclease GEN homolog 1 APPROVED protein-coding ENSG00000178295 26881 08813 612449 VALIDATED 1342920 GFI2 growth factor independent 2 2666 4239 1343150 GEMIN8 gem (nuclear organelle) associated protein 8 The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] X X X p22.2 18140750 18163940 - 13934766 13957956 - 14024845 14048035 - 6480464 17023415;16434402;15489334;14702039;12477932;23221635;21832049;18029348;19928837;21890473;22505724 54960 H7BYE2;Q9NWZ8 ABBA01071159;ABBA01071160;ABBA01071161;ABBA01071162;ABBA01071163;AC003035;AK000521;AK095002;AK125062;AMYH01022097;AMYH01022098;BC003607;BC014324;BC020785;BX386466;CH471074;CR457241;DQ224033;NG_021285;NM_001042479;NM_001042480;NM_017856 AAH03607;AAH14324;AAH20785;ABB46495;ADZ16065;BAA91227;BAC86038;CAG33522;EAW98851;EAW98852;EAW98853;EAW98854;EAW98855;EAW98856;NP_001035944;NP_001035945;NP_060326;Q9NWZ8 Hs.592237 1687007;1701800;1740275;5014051;5037552 D8S2278;D8S2279;DXS1112E;DXS69;RH69517 FAM51A1;FLJ20514;FLJ43072 OTTHUMP00000022942;OTTHUMP00000022943;OTTHUMP00000022944;gem-associated protein 8;gemin-8 APPROVED protein-coding 26044 06533 REVIEWED 1323234 GET4 golgi to ER traffic protein 4 homolog (S. cerevisiae) 7 7 7 p22.3 885435 904670 + 882717 902597 + 916191 936071 + 737633;6480464 12477932 17353931;18249086;16169070;15489334;14702039;12690205;10810093;8889548;19615732;20106980;16341674;20676083;22863883;22939629;16196087;21139048;18781797;19616115;21636303;23246001;23383273 51608 C9JHN8;C9JPA8;C9JY46;Q7L5D6 AACC02000129;ABBA01039306;ABBA01039307;AC073957;AC099731;AF132954;AK023560;AK024305;AK097899;AK125863;AL133014;AMYH01016942;BC003550;BG109419;BM843540;BM980767;CH236965;CH471144;NM_015949 AAD27729;AAH03550;BAG51289;BAG53546;BAG54258;CAB61355;EAL23708;EAW87179;EAW87180;NP_057033;Q7L5D6 Hs.107387 1747651;1762829;2129378;2159423;2164765;5126394 A004D11;A004O12;G65486;RH12698;SHGC-146602;SHGC-64038 C7orf20;CEE;CGI-20;TRC35 Golgi to ER traffic protein 4 homolog;H_NH1244M04.5;OTTHUMP00000140263;OTTHUMP00000200021;conserved edge expressed protein;conserved edge protein;conserved edge-expressed protein;transmembrane domain recognition complex 35 kDa subunit;transmembrane domain recognition complex, 35kDa APPROVED protein-coding ENSG00000239857 21690 12909 612056 VALIDATED 1323334 GFI1B growth factor independent 1B transcription repressor 9 9 q34.13 134843919 134856903 + 135854098 135867084 + 1580863;6480464 16713569;9566867;17420275;17272506;16177182;15507521;15280509;12477932;12351384;9878267;19360458;19522008;19965638;20124515;20143233;21048031;16688220;12874834;19773260;15920471;17707228;22399799 8328 Q5VTD9 ABBA01032476;ABBA01032477;AF081946;AI097490;AL593851;AMYH01021793;AMYH01021794;AY428733;BC035626;BC043371;BC048254;BX113435;CH471090;CR536546;NM_001135031;NM_004188 AAD08672;AAH43371;AAR06639;CAG38783;EAW88023;EAW88024;EAW88025;NP_001128503;NP_004179;Q5VTD9 Hs.553160 1847784;2185567;5121012 D9S1140;RH46545;STS-T56858 OTTHUMP00000022443;OTTHUMP00000022444;OTTHUMP00000235527;growth factor independent 1B (potential regulator of CDKN1A, translocated in CML);growth factor independent protein 1B;potential regulator of CDKN1A translocated in CML;zinc finger protein Gfi-1b protein-coding ENSG00000165702 4238 05088 604383 VALIDATED 6481371 GFOD1-AS1 GFOD1 antisense RNA 1 100874025 AL583828 APPROVED miscrna 40956 736290 GFER growth factor, augmenter of liver regeneration The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008] 16 16 p13.3-p13.12 1974151 1977751 + 2034150 2037749 + 1580863;6480464;7240710 12681488;19397338;18513187;18272248;17336303;16937489;16865786;16677602;15982324;15894171;15489334;14500725;12681483;12477932;12180965;11925624;11879572;11819575;11709497;10982794;10384986;10206950;9813496;8900538;8575761;8076931;6843662;3568764;1552903;16169070;20593814;15304329;19616613;19629817;20066738;20382118;19335987;20877624;20393596;21152698;20690902;20816831;19409522;21383138;22246190;21890473;18029348;21636978;22476097;22224850;21988832;22863717;22948913;23597483;23207295 2671 H3BQQ4;H3BRD2;H3BRW3;P55789 ABBA01030284;AC005606;AF124603;AF124604;AF146394;AF183892;AF208342;AF306863;AJ238317;AMYH01007046;AY550027;BC002429;BC028348;BG705583;CH471112;NG_016288;NM_005262;U31176 AAA96390;AAD17327;AAD17328;AAD36986;AAD56538;AAG38105;AAG43494;AAH02429;AAH28348;AAS55642;CAB87993;EAW85578;EAW85579;EAW85580;NP_005253;P55789 Hs.27184 1683751;1686792;2162549 RH70597;RH80826;RH98312 ALR;ERV1;HERV1;HPO;HPO1;HPO2;HSS ERV1 homolog;FAD-linked sulfhydryl oxidase ALR;erv1-like growth factor;growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae);growth factor, erv1 -like;hepatic regenerative stimulation substance;hepatopoietin protein;truncated augmenter of liver regeneration APPROVED protein-coding ENSG00000127554 4236 02954 600924;613076 REVIEWED 733642 GFI1 growth factor independent 1 transcription repressor This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 p22 92712909 92725021 - 92940318 92952433 - 704404;1580863;6480464;7240710 17909014;8441411;19164764;19026687;18805794;18701459;18371060;17646546;17636019;17244686;17213822;17207994;16888099;16716599;16344560;16319680;16287849;15947108;15489334;15131254;14702039;12874834;12778173;12477932;12351384;11060035;10737800;9051000;8754800;7789186;16713569;19506020;19887785;20075157;20087403;20571393;22932805;17197705;21570500;20723283;20723286;17707228;20547752;22042697 2672 B3KVN4;Q99684 AB209606;ABBA01045542;ABBA01045543;ABBA01045544;AC104456;AK123009;AK313876;AMYH01000796;AMYH01000797;BC032751;BC074866;BC074867;BE242676;BM150826;BQ336135;CH471097;DA927584;DB129173;DB137690;NG_007874;NM_001127215;NM_001127216;NM_005263;U67369 AAB37272;AAH32751;AAH74866;AAH74867;ABM82199;ABM85387;BAD92843;BAG53846;EAW73092;EAW73093;EAW73094;NP_001120687;NP_001120688;NP_005254;Q99684 Hs.73172 1795914;2113208;2113210 D1S3707E;D1S3708E;GFI1_442 FLJ94509;GFI-1;GFI1A;SCN2;ZNF163 OTTHUMP00000012582;OTTHUMP00000012583;growth factor independence-1;growth factor independent protein 1;zinc finger protein 163;zinc finger protein Gfi-1 APPROVED protein-coding ENSG00000162676 4237 07527 600871;607847;613107 REVIEWED 619574 GFAP glial fibrillary acidic protein This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 17 17 q21 40338519 40348394 - 42982994 42992920 - 704404;1580863;5508793;6480511;6480531;6480471;6480464;5490154;5490129;7240710 19959621;21250919;8833197;10225952;18836575;20111877 20471030;16507904;16458536;16365790;16344560;16303762;16217707;16189514;16168595;16168593;16147953;15979880;15885920;15839736;15837555;15732097;15489334;15477559;15469203;15465095;15284230;15238995;14702039;14557587;12975300;12944715;12931206;12884016;12837269;12581808;12477932;12447932;12177195;12169273;12084347;12058025;12034796;11891800;11867077;11595337;11587071;11567214;11379820;11138011;10510252;9693047;9417904;9099667;8889548;8125298;7964717;7822264;2780570;2349237;2163003;2155236;2740350;19540848;19521276;19444543;19420941;19405953;19379794;19372295;19283393;19264642;19221847;19129171;19110265;19034380;18977241;18685083;18508349;18276609;18197187;18079314;18054694;18004641;17985264;17981838;17934883;17894839;17805552;17703343;17601350;17515952;17318298;17203480;17008879;16866629;16826512;16773221;16565071;16507909;2114109;1918004;1847665;1636374;1602151;1601131;15285794;8381971;7842474;8318270;17077296;11519482;2201025;15519244;10597774;19019082;18239623;20886841;22318658;19447584;19508443;19618846;19647039;19663312;19668151;19686046;19888461;20048155;19170683;20121722;21079180;20936779;12355421;20301351;21075782;20625342;20721574;20942581;22118268;22410258;21779366;21917775;20849398;12686604;17500595;21832049;21197541;22360420;21876753;21368691;21756903;12771190;22206859;15174051;21988832;22488673;19427371;21987397;20473970;21702960;21976236;22985558;23455922;17590381;19878567;19886840;20578042;22492246;22797925 2670 A7REI1;B4DIR1;K7EIL2;K7EJK1;K7EJU1;K7EKD1;K7EKH6;K7EKH9;K7ELP4;K7EMP8;K7EPI4;K7EPT8;Q7Z5J7 ABBA01028341;AC015936;AF419299;AJ306447;AK098380;AK098758;AK124465;AK128790;AK222683;AK295734;AK296259;AK303728;AK315398;AL133013;AMYH01008431;AY142187;AY142188;AY142191;BC012228;BC013596;BC041765;BC062609;BC127871;BF341765;BF526347;BM687259;BM931499;CH471178;CS088769;DA254392;DA315956;DQ979832;J04569;M26638;M67446;NG_008401;NM_001131019;NM_001242376;NM_002055;S40719;U92979 AAA52528;AAA52529;AAB22581;AAH13596;AAH41765;AAH62609;AAI27872;AAL16662;AAN87903;AAN87904;AAN87907;ABL14186;ADZ15678;BAC87610;BAD96403;BAG37791;BAG58573;BAG58972;BAG64704;CAB61354;CAC69881;CAI99149;EAW51567;EAW51568;EAW51569;EAW51570;EAW51571;NP_001124491;NP_001229305;NP_002046;P14136 Hs.514227 1669010;1722383;1734034;1775122;1795912;2153626;2167075;2180900 D17S1334;G10623;G60263;GFAP_102;IB801;RH66365;RH78023;SGC30523 FLJ42474;FLJ45472 glial fibrillary acidic protein APPROVED protein-coding ENSG00000131095 4235 00675 137780;203450 REVIEWED 1323002 GFOD1 glucose-fructose oxidoreductase domain containing 1 6 6 6 pter-p22.1 14596764 14720992 - 13471798 13595766 - 13363587 13487869 - 1580863;6480464 18821565;15489334;14702039;14574404;12477932;20379614;11181995;16344560;15342556;19322201 54438 Q9NXC2 ABBA01022125;ABBA01022126;AF264036;AK000337;AK027010;AK055131;AL583828;AL589984;AL591969;AMYH01016092;AW137218;BC009205;BC066553;BC119005;BC124557;BC148295;BP283322;CH471087;DA433106;DB153908;NM_001242628;NM_001242629;NM_001242630;NM_018988;NR_038459 AAH66553;AAI19006;AAI24558;AAI48296;AAK58533;BAA91093;BAB15624;EAW55329;EAW55330;EAW55331;NP_001229557;NP_001229558;NP_001229559;NP_061861;Q9NXC2 Hs.484686 1341916;1777771 D6S1593;STS-AA035729 ADG-90;C6orf114;FLJ20330;FLJ30569;MGC70653;RP11-501I19.1 OTTHUMP00000016049;OTTHUMP00000016050;OTTHUMP00000016051;glucose-fructose oxidoreductase domain-containing protein 1 protein-coding ENSG00000145990 21096 13574 VALIDATED 1604558 GFM1 G elongation factor, mitochondrial 1 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008] 3 3 q25 159845011 159893055 + 158362317 158410361 + 6480464;7240710 21986555;16248985;17160893;16632485;15537906;15489334;15358359;14702039;12477932;11735030;11374907;3169261;2556394;19695239;19716793;20877624;20843780;19135240;21963094;21139048;21890473;21906983 85476 C9IZ01;C9JA25;E5KND5;F8WAU4;H7C5M4;Q96RP9;Q9H9M0 ABBA01058813;AC025033;AC080013;AF309777;AF367998;AK000780;AK022724;AK023694;AK092293;AK315031;AMYH01013609;BC049210;CH471052;HQ205226;HQ205227;HQ205229;HQ205230;HQ205231;HQ205234;HQ205237;HQ205238;HQ205240;HQ205241;HQ205243;HQ205244;HQ205245;HQ205247;HQ205248;HQ205249;HQ205251;HQ205252;HQ205255;HQ205258;HQ205261;HQ205262;HQ205263;HQ205264;HQ205265;NG_008441;NM_024996 AAH49210;AAK53402;AAK58877;ADP90694;ADP90695;ADP90697;ADP90698;ADP90699;ADP90702;ADP90705;ADP90706;ADP90708;ADP90709;ADP90711;ADP90712;ADP90713;ADP90715;ADP90716;ADP90717;ADP90719;ADP90720;ADP90723;ADP90726;ADP90729;ADP90730;ADP90731;ADP90732;ADP90733;BAB14205;BAG37516;BAG52523;EAW78677;EAW78678;EAW78679;EAW78680;EAW78681;EAW78682;NP_079272;Q96RP9 Hs.518355 1688287;1698760;1699484;2124389;2136182;5021872;5022578;5037552 D1S1423;D8S2279;RH102943;RH103335;RH70156;RH80464;STS-N90141;sY3084 COXPD1;EFG;EFG1;EFGM;EGF1;FLJ12662;FLJ13632;FLJ20773;GFM;hEFG1 EF-Gmt;G translation elongation factor, mitochondrial;OTTHUMP00000213511;OTTHUMP00000213512;OTTHUMP00000213514;elongation factor G 1, mitochondrial;elongation factor G, mitochondrial;elongation factor G1;mEF-G 1;mitochondrial elongation factor G;mitochondrial elongation factor G1 APPROVED protein-coding ENSG00000168827 13780 07365 606639;609060 REVIEWED 1603941 GFM2 G elongation factor, mitochondrial 2 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] 5 5 5 q13 69911787 69957794 - 74052787 74098798 - 74017031 74063042 - 6480464 18753147;16632485;15489334;12477932;11735030;22719265;19716793;20877624;21139048;21906983;21963094 84340 D6RAL1;D6RF75;Q969S9 AA418187;ABBA01061934;ABBA01061935;AC093214;AF111808;AF367997;AK025314;AK307839;AK308422;AK315705;AMYH01015407;AY453587;BC015712;BC030612;BI828937;BU622328;CH471084;DC402212;NG_011531;NM_001281302;NM_032380;NM_170681;NM_170691;NR_104006 AAH15712;AAH30612;AAK53401;AAL39010;AAS49035;ADZ16046;BAB15109;EAW95743;EAW95744;EAW95745;EAW95746;EAW95747;EAW95748;NP_001268231;NP_115756;NP_733781;NP_733792;Q969S9 Hs.277154 1672097;1700518;1735492;1735526;1750679;1785692;2121650;2139534 D5S1611E;D5S1663E;RH103880;SHGC-111990;SHGC-32009;SHGC-79002;STS-R97079;WI-16064 EF-G2mt;EFG2;MRRF2;MST027;MSTP027;RRF2;RRF2mt;hEFG2;mEF-G 2 MSTP027;OTTHUMP00000128233;OTTHUMP00000128234;OTTHUMP00000222950;OTTHUMP00000222951;OTTHUMP00000222952;elongation factor G 2, mitochondrial;mitochondrial elongation factor G2;mitochondrial ribosome recycling factor 2;ribosome-releasing factor 2, mitochondrial APPROVED protein-coding ENSG00000164347 29682 09413 606544 REVIEWED 1343287 GFRA4 GDNF family receptor alpha 4 The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 20 20 20 p13-p12 3701823 3705927 - 3587939 3592046 - 3639939 3644046 - 727298;1580863;6480464 10958791 15225646;12624147;11780052;11551746;11116144;9740802 64096 Q9GZZ7 ABBA01053826;AF253318;AJ291673;AJ291674;AJ291675;AL356755;AMYH01011676;AMYH01011677;CH471133;NM_022139;NM_145762 AAG25925;AAI72271;AAI72567;CAC19690;CAC19691;CAC19692;EAX10527;EAX10528;EAX10529;NP_071422;NP_665705;Q9GZZ7 Hs.302025 GDNF family receptor alpha-4;GDNF receptor alpha-4;GDNFR-alpha-4;GFR receptor alpha 4;GFR-alpha-4;OTTHUMP00000030106;OTTHUMP00000030107;persephin receptor APPROVED protein-coding ENSG00000125861 13821 11003 REVIEWED 1604920 GFRAL GDNF family receptor alpha like 6 6 6 p12.1 56853801 56928807 + 55300226 55375250 + 55192267 55267291 + 6480464 16086688;14574404;12975309;22318606 389400 Q6UXV0 ABBA01050507;AL592426;AMYH01016362;AY358198;CH471081;NM_207410 AAQ88565;EAX04441;NP_997293;Q6UXV0 Hs.526967 1336544;1667424;1762371;2110793;5022578 D1S1423;D6S1636;G17074;SHGC-146200;UNQ9356__5024 C6orf144;GRAL;UNQ9356;bA360D14.1 GDNF family receptor alpha-like;IVFI9356;OTTHUMP00000016646 protein-coding ENSG00000187871 32789 15622 VALIDATED 1604583 GFOD2 glucose-fructose oxidoreductase domain containing 2 16 16 16 q22.1 52216926 52261762 - 66265940 66310718 - 67708436 67753273 - 6480464 17081983;15489334;14702039;12975309;12477932;8125298;20864672;21906983;22505724 81577 Q3B7J2;R4GNG5 ABBA01025451;ABBA01025452;ABBA01025453;ABBA01025454;ABBA01025455;AC010530;AK074382;AK091606;AK096635;AK225997;AK307280;AL832904;AMYH01007751;AY358169;BC000757;BC002943;BC107585;BI826603;BQ003788;BQ437486;CH471092;DC368734;DC381447;NM_001243650;NM_030819;NR_027398 AAH00757;AAH02943;AAI07586;AAQ88536;BAB85066;BAG52390;CAH10637;EAW83166;NP_001230579;NP_110446;Q3B7J2 Hs.307084 1653265;1698742;1729796;2128343;5015404;5015861;5015961;5037552;7185938 D10S16;D15S1477;D16S322;D8S2279;L17705;RH102934;RH48080;SHGC-60687 FLJ23802;FLJ39316;MGC11335 OTTHUMP00000174841;glucose-fructose oxidoreductase domain-containing protein 2 protein-coding ENSG00000141098 28159 14419 VALIDATED 732295 GFRA2 GDNF family receptor alpha 2 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 8 8 p21.3 21688430 21702292 - 21549530 21646346 - 61606;1580863;704404;6218972;6218970;6480464 9177201;12210101;15144875 10829012;9192898;18521090;17825269;17522305;15489334;12624147;12490080;12477932;11409869;10774729;9407096;9259272;9182803;19573479;19860791;20116071;20369355;20800603;15717329;21723942 2675 E5RGR6;E5RJ44;J3KNF0;O00451 ABBA01005493;ABBA01005494;ABBA01005495;ABBA01021522;ABBA01021523;ABBA01021524;ABBA01021525;ABBA01021526;ABBA01021527;ABBA01021528;AC105186;AC129925;AF002700;AK299623;AMYH01018562;AP008236;AY326396;AY941828;BC041688;CH471080;CS487672;NG_029215;NM_001165038;NM_001165039;NM_001495;U93703;U97145 AAB61922;AAC51647;AAC52036;AAH41688;AAP88378;AAX46325;ADZ15613;BAG61551;CAM55948;EAW63742;NP_001158510;NP_001158511;NP_001486;O00451 Hs.441202 1338538;1786780;1786782;2116460;2126843;2146727;2153701;7187487 A003B30;D8S1417E;D8S560;SHGC-155724;SHGC-155725;SHGC-31819;WI-19670 GDNFRB;NRTNR-ALPHA;NTNRA;RETL2;TRNR2 GDNF family receptor alpha-2;GDNF receptor alpha-2;GDNF receptor beta;GDNFR-alpha-2;GDNFR-beta;GFR-alpha 2;GFR-alpha-2;NTNR-alpha;OTTHUMP00000225304;OTTHUMP00000225305;OTTHUMP00000225355;OTTHUMP00000225356;PI-linked cell-surface accessory protein;RET ligand 2;TGF-beta related neurotrophic factor receptor 2;TGF-beta-related neurotrophic factor receptor 2;TRN receptor, GPI-anchored;glial cell line derived neurotrophic factor family receptor alpha 2;glial cell line derived neurotrophic factor receptor, beta;neurturin receptor alpha APPROVED protein-coding ENSG00000168546 4244 11801 601956 REVIEWED 1351553 GFPT2 glutamine-fructose-6-phosphate transaminase 2 5 5 5 q34-q35 175353585 175406149 - 179660306 179712921 - 179727700 179780315 - 1580863;2307362;6480464;6907045 14764791 10198162;17574229;17542649;17081983;15489334;14702039;12477932;20353610;23314748;22318606;21906983;21044950;20881960;21145461;22505724 9945 D6RAC1;E5RJP4;O94808 AB016789;ABBA01010064;ABBA01010065;AC008610;AK001242;AK022507;AK297750;AK314551;AMYH01015967;BC000012;BT009818;CH471165;NM_005110 AAH00012;AAP88820;ABM83102;ABM86297;BAA74731;BAG37137;BAG50875;BAG51080;BAG60100;EAW53755;EAW53756;NP_005101;O94808 Hs.696497 1758327;1758419;1763057;1777534;2217364 GEPT2_3752;RH78425;SHGC-146797;SHGC-148059;SHGC-148282 FLJ10380;GFAT2 D-fructose-6-phosphate amidotransferase 2;GFAT 2;OTTHUMP00000223940;glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2;glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2;glutamine: fructose-6-phosphate aminotransferase 2;glutamine:fructose 6 phosphate amidotransferase 2;glutamine:fructose-6-phosphate amidotransferase 2;hexosephosphate aminotransferase 2 protein-coding ENSG00000131459 4242 04842 603865 PROVISIONAL 731370 GFRA3 GDNF family receptor alpha 3 The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008] 5 5 q31.1-q31.3 137615968 137638152 - 137588069 137610253 - 1580863;704404;6218977;6480464 10852218 9407096;9576965;9490034;16773224;16765900;15489334;15340161;12975309;12624147;12490080;12477932;11360200;10978357;9883723;7829101;22610502;19304517;20116071;18029348;22031517;23351331 2676 O60609 ABBA01068688;AC106752;AF051767;AF086292;AK297693;AK314022;AMYH01015641;AW020606;AY358997;AY359037;BC037951;CH471062;CS487680;NM_001496 AAC24355;AAH37951;AAQ89356;AAQ89396;ABM81776;ABM84930;BAG36733;BAG60051;CAM55952;EAW62152;EAW62153;NP_001487;O60609 Hs.58042 1678923;2110421 GFRA3_3327;RH99221 GDNF family receptor alpha-3;GDNF receptor alpha-3;GDNFR-alpha-3;GFR-alpha-3;GPI-linked receptor;OTTHUMP00000159486;OTTHUMP00000224020;gdnf-family receptor alpha 3;glial cell line-derived neurotrophic factor receptor alpha-3 APPROVED protein-coding ENSG00000146013 4245 10420 605710 REVIEWED 1353383 GFPT1 glutamine--fructose-6-phosphate transaminase 1 This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008] 2 2 p13 69405911 69467829 - 69546901 69614386 - 1625423;1624365;1625539;1580863;2313352;2313353;2313356;6480464;6907045 11118009;16555472;15466941;17574229;9519709;19190104 17941647;8144040;1460020;19170765;19059404;17542649;17081983;17024311;16964243;16341674;15878746;15613432;15595739;15489334;15308130;14988277;12802498;12477932;11679416;11587069;10997685;10806197;10198162;9110174;8619474;7607664;7601477;2037571;20845477;20562859;21310273;22863883;16344560;18781797;21139048;21890473;21906983;19322201;20301347;22318606;22586326;21988832;22053931;23000965;22505724;22987706 2673 Q06210;Q8WYR5 ABBA01075496;ABBA01075497;ABBA01075498;ABBA01075499;AC114772;AF131846;AF334737;AF445027;AMYH01010420;AW079566;BC045641;BG723175;BI560595;BM744371;CH471053;DB133199;M90516;NG_029542;NM_001244710;NM_002056 AAA58502;AAH45641;AAK15342;AAL38588;AAY14827;EAW99851;EAW99852;EAW99853;NP_001231639;NP_002047;Q06210 Hs.580300 1654469;1682810;1688227;1721035;1850561;2132071;2132518;2135122;2218778;5037552 D8S2279;G59499;GFPT1_3984;RH17749;RH79097;RH94297;RH99057;SHGC-31513;SHGC-57784;WI-13967 CMSTA1;GFA;GFAT;GFAT 1;GFAT1;GFAT1m;GFPT;GFPT1L;MSLG D-fructose-6-phosphate amidotransferase 1;OTTHUMP00000202179;glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1;glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1;glutamine-fructose-6-phosphate transaminase 1;glutamine: fructose-6-phosphate amidotransferase-1;glutamine:fructose 6 phosphate amidotransferase 1;glutamine:fructose-6-phosphate amidotransferase 1;hexosephosphate aminotransferase 1 APPROVED protein-coding ENSG00000198380 4241 00702 138292;610542 REVIEWED 733164 GFRA1 GDNF family receptor alpha 1 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Feb 2009] 10 10 q26.11 117812943 118022966 - 117816436 118033126 - 1580863;6218962;6218983;6218967;6218963;6218974;6218970;6218972;6218981;6218984;6218979;6480464;6218969 21865882;9853108;17507417;20533358;11476594;15144875;12210101;10407114;9582449;10407179;16464682 10829012;9545641;8674117;19282698;19188437;19019765;18845535;18394855;18353777;18089803;17825269;17298301;16813162;16644101;16551639;16344560;16175604;15489334;14759258;14702039;14566559;14514671;12837245;12624147;12490080;12477932;12065680;11932334;11360200;11182089;10821644;10774729;9740802;9697851;9600247;9482105;9465905;9407096;9192898;9182803;9177201;9108413;8889548;8657309;7829101;20669561;16385451;19896648;20116071;20379614;20424473;20347960;20350599;21133924;22729463;15310755;21988832;23351331;23382691 2674 B7Z856;P56159 ABBA01062960;ABBA01062961;ABBA01062962;ABBA01062963;AC012470;AC073588;AF038420;AF038421;AF042080;AF058999;AK001423;AK056108;AK292886;AK302914;AL832661;AMYH01003095;AW021438;BC014962;BM675677;BU935138;BX648964;CH471066;CS417511;CS487670;DA742495;NM_001145453;NM_005264;NM_145793;U95847;U97144 AAB71811;AAB97371;AAC14431;AAC39692;AAC39693;AAC51646;AAH14962;ABM83136;ABM86332;BAF85575;BAH13842;CAL48763;CAM55947;EAW49456;EAW49457;EAW49458;NP_001138925;NP_005255;NP_665736;P56159 Hs.388347 1334832;1647364;1669234;1683164;1718733;1720289;1754669;1772920;1773269;1854948;1854950;2113098;2143885;2144047;2157007;2167221;2190353;2190355;2190357 AFMA338XB5;D10S0108;D10S0404;D10S0499;D10S1330E;D10S1471;D10S1748;D10S2181;D10S2383;D10S2458;G31142;RH123055;RH123893;RH44743;RH46367;RH92804;SHGC-133025;SHGC-60298;WI-11643 DKFZp313E1012;DKFZp686J0156;FLJ10561;FLJ31546;GDNFR;GDNFRA;GFR-ALPHA-1;MGC23045;RET1L;RETL1;TRNR1 GDNF family receptor alpha-1;GDNF receptor alpha-1;GDNFR-alpha-1;GPI-linked anchor protein;Glial cell line-derived neurotrophic factor receptor alpha;OTTHUMP00000020558;OTTHUMP00000020559;OTTHUMP00000020560;PI-linked cell-surface accessory protein;RET ligand 1;TGF-beta related neurotrophic factor receptor 1;TGF-beta-related neurotrophic factor receptor 1;glial cell line derived neurotrophic factor family receptor alpha 1 APPROVED protein-coding ENSG00000151892 4243 03291 601496 REVIEWED 2299985 GGACT gamma-glutamylamine cyclotransferase The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010] 13 13 13 q32.3 82026987 82085620 - 99980002 99987974 - 101182418 101241046 - 6480464 14702039;12477932;16344560;20110353 87769 M0R0M3;M0R217;Q9BVM4 ABBA01027088;AK091974;AK093228;AK095850;AL136526;AL356966;AMYH01005334;BC001077;BC004360;CH471085;DA628207;NM_001195087;NM_033110 AAH01077;AAH04360;BAG53143;EAX09037;NP_001182016;NP_149101;Q9BVM4 Hs.350868 1855513 SHGC-12499 A2LD1 AIG2-like domain 1;AIG2-like domain-containing protein 1;OTTHUMP00000018653;gamma-glutamylamine cyclotransferase;gamma-glutamylaminecyclotransferase APPROVED protein-coding 25100 613378 REVIEWED 1312455 GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008] 16 16 p12 23383144 23429309 - 23474863 23521815 - 1580863;6480464 17494868;17451558;16189514;15615712;15489334;15146197;15039775;14665628;14638859;14567678;12808037;12606052;12477932;12429846;12213833;12135764;11950392;11886874;11821067;11390366;11387476;11387475;11331584;11301005;10814529;10747089;10747088;10702286;10493829;10470851;8889548;10749927;12505986;18431031;17596511;15345724;16473621;14702039;16344560;16996030;19019082;19478182;19788741;21832049;22939629;21139048;21890473;15047686;17344219;14636058;22291915;11859375;18439901;18638397;20012524 23062 H3BMM6;H3BMN6;H3BPF4;H3BPI3;I3L263;I3L2C4;Q9UJY4 AB029003;ABBA01017060;ABBA01017061;ABBA01017062;ABBA01017063;ABBA01163463;AC002400;AC008915;AF165531;AF190863;AF233522;AF323754;AK024619;AK026350;AK093769;AK308425;AMYH01007382;BC000284;BC050620;BU689580;BU855556;CH471145;CN423115;DA439738;NM_015044 AAC05813;AAF05708;AAF35394;AAF42806;AAH00284;AAK38634;ABM83460;ABM86671;BAA83032;EAW55827;EAW55828;EAW55829;NP_055859;Q9UJY4 Hs.460336 1664893;1678557;1686510;1691134;1775270;2114639;2114641;2120229;2129338;2185420;5015861;5022651;5037552;5109281;5113192;7185938 A004H39;D10S16;D11S2921;D16S3346;D16S3347;D1S1425;D8S2279;RH68368;RH75001;RH80401;RH93428;SHGC-2574;SHGC-33867;SHGC-60760;SHGC-64029 FLJ20966;KIAA1080;VEAR ADP-ribosylation factor-binding protein GGA2;OTTHUMP00000122425;VHS domain and ear domain of gamma-adaptin;VHS domain and ear domain-containing protein;gamma-adaptin-related protein 2;golgi associated, gamma adaptin ear containing, ARF binding protein 2;golgi-localized, gamma ear-containing, ARF-binding protein 2 APPROVED protein-coding ENSG00000103365 16064 09347 606005 REVIEWED 1317154 GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.31 36334449 36359517 + 38004481 38029571 + 1580863;6480464 17494868;17151287;17005855;16407204;16303743;15886016;15775984;15615712;15489334;15466887;15461802;15231748;15039775;14973137;14702039;14665628;14660606;14638859;14636058;14567678;12858163;12808037;12767220;12668765;12636914;12578827;12538641;12477932;12135764;12060753;11950392;11859376;11821067;11390366;11387475;11301005;10814529;10749927;10747089;10747088;10591208;8125298;12221117;11124697;12505986;12679809;15143060;17596511;17506864;15345724;16473621;19285159;20015111;15457209;16344560;16996030;19788741;23383273;22621900;20676133;21139048;21890473;21906983;11792819;14690499;15044437;15047686;15117318;17052248;17344219;19327867;11859375;18439901;18638397;20012524;21841072;22004035;22505724 26088 B0QYR5;B0QYR6;B0QYR8;B0QYR9;B0QYS0;B0QYS1;B0QYS2;B0QYS3;B0QYS4;B0QYS5;Q6IC75;Q9UGW0 ABBA01055477;ABBA01055478;AF190862;AF218584;AF233521;AK075256;AK092417;AK095427;AK097270;AK122898;AK225157;AK290548;AL035496;AL110219;AMYH01012754;BC000538;BC010917;BC029388;BC044629;CH471095;CQ783371;CR456493;DA455573;NM_001001560;NM_001001561;NM_001172687;NM_001172688;NM_013365;Z83844 AAF05707;AAF35393;AAF42847;AAH00538;AAH10917;AAH29388;AAH44629;BAC11501;BAF83237;BAG53054;BAG53788;CAB53679;CAF86574;CAG30379;CAK54521;CAK54820;EAW60168;EAW60169;EAW60170;NP_001001560;NP_001001561;NP_001166158;NP_001166159;NP_037497;Q9UJY5 Hs.499158 2178526;2178528;5022651 A002Q07;D11S2921;WI-11639 ADP-ribosylation factor binding protein 1;ADP-ribosylation factor-binding protein GGA1;OTTHUMP00000028975;OTTHUMP00000042200;OTTHUMP00000198162;OTTHUMP00000214014;gamma-adaptin related protein 1;gamma-adaptin-related protein 1;golgi associated, gamma adaptin ear containing, ARF binding protein 1;golgi-localized, gamma ear-containing, ARF-binding protein 1 APPROVED protein-coding ENSG00000100083 17842 12078 606004 REVIEWED 1642110 GGNBP1 gametogenetin binding protein 1 (pseudogene) This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals. [provided by RefSeq, Aug 2009] 6 6 6 p21 35105855 35111182 + 33659493 33664781 + 33551476 33556803 + 6480464 15642376;15625700;19913121;20628086;15892049 449520 Q5YKI7 ABBA01038158;AMYH01016247;AY383626;AY383627;CH471081;NR_028361;Z93017 AAR26430;AAR26431;EAX03743;Q5YKI7 Hs.582973 1339434;7186216 D6S1560 APPROVED pseudo ENSG00000204188 19427 609495 REVIEWED 1312569 GGCT gamma-glutamylcyclotransferase The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 7 7 7 p15-p14 30525436 30533653 - 30502762 30510977 - 30536237 30544457 - 6480464;6907045 18515354;17932939;16765912;15489334;14702039;12690205;12477932;20110353;21136669;17207965;19423540;20406964;20438785;20527979;21832049;21508379;22205682;21883928;21139048;21890473;21906983 79017 B8ZZK2;H7BZK5;M0QZK8;O75223 AACC02000087;ABBA01056813;AC005154;AK021779;AK315608;AMYH01017151;BC000625;BC005356;BC013937;BC019243;BE407390;BE885397;BG527593;CH471073;NM_001199815;NM_001199816;NM_001199817;NM_024051;NR_037669 AAH00625;AAH05356;AAH13937;AAH19243;ADQ33188;BAG37977;BAG51049;EAL24452;EAW93950;EAW93951;EAW93952;EAW93953;NP_001186744;NP_001186745;NP_001186746;NP_076956;O75223 Hs.530024 1695040;1696870;1740199;2123893;2125325;2179145;5015879;5118444 D11S3316;D7S2241;D7S2404;G44750;G49180;GDB:314949;RH48212;RH69806 C7orf24;CRF21;FLJ11717;GCTG;Ggc;MGC3077 OTTHUMP00000158746;OTTHUMP00000202471;OTTHUMP00000202473;OTTHUMP00000202475;cytochrome c-releasing factor 21;gamma -glutamyl cyclotransferase;gamma-glutamylcyclotransferase APPROVED protein-coding ENSG00000006625 21705 12912 137170 REVIEWED 1319955 GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] 17 17 q25.1 70744290 70769272 - 73232694 73258444 - 1580863;6480464;6484113 10749927;12505986;17553422;17494868;16996030;16977309;16135791;15701688;15615712;15494413;15489334;15231748;15143060;15039775;10747088;8590280;12221117;14702039;14665628;14660606;14638859;14567678;12810073;12477932;12215646;12213833;12060753;12032548;11950392;11859375;11387475;11301005;10814529;10747089;15345724;16473621;20484053;17116753;19788741;19815556;8889548;16497223;15039776;20848231;21139048;21440067;21890473;21906983;12858162;15047686;15966896;18162163;18199687;11390366;21517092;18439901;18638397;20012524;21664574;22053931;22505724 23163 A8K6I6;A8K6M0;B7Z1E9;B7Z456;G3V1K5;J3KRM3;J3KS27;J3KSG3;J3KSS7;J3KTR5;J3QRK7;J3QRP3;J3QRS8;J3QS87;Q9NZ52 ABBA01028806;ABBA01028807;ABBA01028808;ABBA01028809;AC022211;AF190864;AF219138;AF219139;AK124541;AK291651;AK291685;AK293291;AK296843;AK301895;AK302278;AK302423;AK304692;AL833603;AMYH01008632;BC051732;BC063285;BC070044;BM981305;CH471099;D63876;NM_001172703;NM_001172704;NM_014001;NM_138619;NR_033345 AAF05709;AAF42848;AAF42849;AAH70044;BAA09926;BAF84340;BAF84374;BAH11485;BAH12442;BAH13578;BAH13665;BAH13705;BAH14238;EAW89252;EAW89253;EAW89254;EAW89255;EAW89256;EAW89257;EAW89258;EAW89259;EAW89260;NP_001166174;NP_001166175;NP_054720;NP_619525;Q9NZ52 Hs.87726 1677913;1689368;1729181 RH25373;RH98808;UniSTS:146574 KIAA0154 ADP-ribosylation factor-binding protein GGA3;Golgi-localized, gamma ear-containing, ARF-binding protein 3;golgi associated, gamma adaptin ear containing, ARF binding protein 3 APPROVED protein-coding ENSG00000125447 17079 10443 606006 REVIEWED 1353052 GGT2 gamma-glutamyltransferase 2 GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 22 22 q11.21 19892261 19910952 - 21562427 21580490 - 1580863;6480464 19012630;18421185;18357469;18342385;18297606;18071669;17976673;10591208;8104871;2573352;20622017;18486136;18656271;19214177;19670414;21375200;21986103;22269385 728441 B5MCK8;P36268 AMYH01012557;AMYH01012558;AP000550;M30474;XM_001129377;XM_003118822;XM_003846303;XM_003846304;XM_003960804;XM_003960805;XM_003960806;XM_003960807 AAA52548;P36268;XP_001129377;XP_003118870;XP_003846351;XP_003846352;XP_003960853;XP_003960854;XP_003960855;XP_003960856 Hs.568255 5021298;5119957;5123354;5124792;5127483 D22S732;GDB:190922;J05235;RH69116;RH79893 GGT;GGT 2 OTTHUMP00000197939;OTTHUMP00000198499;OTTHUMP00000198500;OTTHUMP00000198501;OTTHUMP00000198502;OTTHUMP00000198503;OTTHUMP00000198509;gamma-glutamyltransferase 2;gamma-glutamyltranspeptidase 2;glutathione hydrolase 2 APPROVED protein-coding ENSG00000133475 4251 137181 MODEL 735324 GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008] 8 8 q12.3 64090192 64113940 - 63927638 63951610 - 69845;1300048;1580863;6480464;6907045;7242559 8621474;16859665 2867095;1713122;19307503;19161160;19093297;19016697;18851872;18842806;18830263;18676680;18414409;17409534;17286537;17081065;17009228;16945597;16875718;16141796;15492986;15489334;12643545;12477932;11953431;10598552;10570974;9614206;8816764;3759978;21145461;11005824;19170196;19625176;19636555;19692168;19774638;19815704;19827168;19841321;19858780;20037791;20197200;20453000;22994778;23000965;20651609;21674799;22863883;22939629;22990118;23107767;21538980;21139048;21890473;21906983;22018726;22568793;22649255;22678806;23374458;22763757;22268729 8836 Q92820 ABBA01041833;AC120042;AF147082;AK290450;AK301094;AMYH01018762;BC025025;CH471068;NG_028126;NM_003878;U55206 AAC05579;AAF03360;AAH25025;ADZ15860;BAF83139;BAG62694;EAW86862;NP_003869;Q92820 Hs.78619 1697744;2183845 RH102394;SHGC-36870 GH OTTHUMP00000226541;conjugase;folylpolygammaglutamyl hydrolase;gamma-Glu-X carboxypeptidase;gamma-glutamyl hydrolase APPROVED protein-coding ENSG00000137563 4248 03299 601509 REVIEWED 68554 GGCX gamma-glutamyl carboxylase This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] 2 2 p12 85629714 85642090 - 85771978 85788657 - 704404;1598791;1580863;6480464;7240710 9845520 14702039;1749935;19436136;19383345;19233910;19116367;18800149;18680736;18498174;18234294;18079608;17786385;17764537;17189218;17144668;17049586;17048007;17029979;16979907;16676068;15900282;15883587;15815621;15489334;15365175;15287948;14660587;14567538;12968027;12963724;12477932;12475254;12034728;11591726;11580082;11570873;11133752;11087858;11071668;10934213;10910912;10556651;10393081;9538022;9166845;8702425;8647260;8125298;7759116;3944102;2145029;1498334;19913121;20628086;20694283;20716240;20811787;19942260;19652895;19794411;19821094;19958090;20020283;20149073;20193673;20213530;20332604;21057703;20716530;8889548;21704322;21475774;21800014;21890473;21987572;21963094;23000965;21344298;22188360;21743467;22268729 2677 F8WB98;F8WCF0;F8WDU9;P38435 ABBA01075757;AC016753;AF253530;AK054569;AK130139;AK222827;AK225663;AK297397;AK298982;AK310483;AK313126;AMYH01010496;BC004422;BC013979;BM974022;CH471053;DC296316;EU847509;L17128;M81592;NG_011811;NM_000821;NM_001142269;U65896 AAA58643;AAA91834;AAB39832;AAF64245;AAH13979;AAY24340;ABM83874;ABM87195;ACF70731;BAD96547;BAG35946;BAG59837;BAG61076;EAW99509;EAW99510;NP_000812;NP_001135741;P38435 Hs.77719 1670472;1676404;1734240;1744977;2148382;2170536;2183618;5014051;5016478;5022578;5037552 D1S1423;D2S1496E;D3S3930;D8S2278;D8S2279;G28262;GDB:434012;GDB:592480;RH47212;RH75358;WI-17445 FLJ26629;VKCFD1 OTTHUMP00000160676;OTTHUMP00000203090;peptidyl-glutamate 4-carboxylase;vitamin K gamma glutamyl carboxylase;vitamin K-dependent gamma-carboxylase APPROVED protein-coding 4247 00665 137167;277450;610842 REVIEWED 2290504 GGT4P gamma-glutamyltransferase 4 pseudogene 18357469 643171 ABBA01048744;ABBA01048745;ABBA01048746;AL356585;NG_007580 pseudo 33207 INFERRED 1343556 GGNBP2 gametogenetin binding protein 2 17 17 17 q12 31723010 31768554 + 31974917 32020391 + 34900737 34946278 + 1304483;1580863;6480464 11728448 15642376;15145523;14702039;16344560;12477932;22350815;21906983 79893 K7EK79;K7ELA8;K7ENW0;Q9H3C7 ABBA01012426;ABBA01012427;ABBA01012428;AC003042;AC126327;AC233698;AF126964;AF268387;AJ404670;AK024883;AK026214;AK124053;AK124084;AK290687;AK292161;AK301614;AMYH01008361;BC137491;BG393068;CD557886;CH471199;DA494492;DC424145;NM_024835 AAG43247;AAI37492;AAK38614;BAB15031;BAB15397;BAF83376;BAF84850;BAG54002;BAG63099;CAC18878;EAW57566;EAW57567;NP_079111;Q9H3C7 Hs.514116 1665901;5022200 L18426;WI-16428 DIF-3;DIF3;FLJ21230;FLJ22561;FLJ42090;LCRG1;LZK1;ZFP403;ZNF403 C3HC4-type zinc finger protein;OTTHUMP00000164068;gametogenetin-binding protein 2;laryngeal carcinoma related gene 1;laryngeal carcinoma-related protein 1;zinc finger protein 403 protein-coding ENSG00000005955 19357 18337 612275 VALIDATED 1350985 GGT3P gamma-glutamyltransferase 3 pseudogene 22 22 q11.21 17141202 17159474 - 18761202 18779474 - 18357469;14715246;12477932;10737800;8104871;2573352 2679 A6NGU5 ABBA01017182;AC008132;AMYH01012458;AMYH01012459;BC108264;BC143607;NR_003267 A6NGU5 Hs.595809 5021298;5119957;5123354;5124792;5127483 D22S732;GDB:190922;J05235;RH69116;RH79893 GGT3 gamma-glutamyltransferase 3 pseudo ENSG00000197421 4252 VALIDATED 1315571 GGN gametogenetin This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 35677229 35680905 - 43566832 43570508 - 38874992 38878668 - 6480464 15642376;15489334;14702039;12574169;12477932;22990118;21114676 199720 K7EJI6;K7ENT5;Q86UU5 ABBA01040680;AC005789;AF538035;AF538036;AF538037;AK057356;AK093032;AMYH01009780;BC035008;BK000550;CH471126;HC007004;NM_152657 AAH35008;AAP31500;AAP31501;AAP31502;ABM82154;ABM85339;BAC04025;CBH19307;DAA00240;EAW56786;EAW56787;EAW56788;NP_689870;Q86UU5 Hs.447948 1683679 RH98516 FLJ35713;MGC33369 gametogenetin APPROVED protein-coding ENSG00000179168 18869 17036 609966 REVIEWED 2290516 GGT8P gamma-glutamyltransferase 8 pseudogene 2 2 2 p11.1 122740768 122747551 - 91327095 91333880 + 91963368 91970153 + 18357469;14702039 645367 AC027612;AK055838;AMYH01010658;NR_003503 Hs.650223 5109281 D1S1425 FLJ31276;GGT1P1 pseudo 33438 PROVISIONAL 1605884 GGTA2P glycoprotein, alpha-galactosyltransferase 2, pseudogene 12 12 12 q14.3 67323628 67324751 - 65945886 65947009 - 67659619 67660742 - 10978293;2108966;1901859;1559713 121328 ABBA01026567;AC012518;AF196986;AF378672;AMYH01004558;M60263;NG_002767 2126610;5125942 D12S868;GGTA1 GGTA1P;GLYT2L;GLYT3;HGT2 APPROVED pseudo 4254 104175 INFERRED 1353216 GGTL1 gamma-glutamyltransferase-like 1 8104871 2684 4257 1345457 GGTL2 gamma-glutamyltransferase-like 2 8104871 2685 4258 1353524 GGTLA3 gamma-glutamyltransferase-like activity 3 10843999 128831 16436 1343459 GGPS1 geranylgeranyl diphosphate synthase 1 This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010] 1 1 q43 233558376 233574470 + 235491753 235507847 + 1580863;6480464;6907045 15489334;9741684;10026212;17646172;17536018;16806233;16710414;16698791;12477932;12446740;10931946;10101267;8419360;21321112;17207965;18726356;20191015;21224049;21139048;21890473;21906983;22505724 9453 A8MVQ8;C9J6G3;C9J7M1;O95749 AB016043;AB017971;AB019036;ABBA01033126;AF057698;AF125394;AI088775;AK025139;AK293278;AL391994;AMYH01001844;BC005252;BC067768;BI462253;BI520491;BI963107;CB216084;CH471098;DB473584;NM_001037277;NR_036605 AAD43050;AAG45581;AAH05252;AAH67768;ADQ32621;BAA75909;BAA76511;BAA77251;BAH11480;EAW70016;EAW70017;EAW70018;EAW70019;EAW70020;NP_001032354;O95749 Hs.730768 1684449;2109345;2141362;5014051;5037552 D8S2278;D8S2279;GGPS1_8940;RH91999;SHGC-76562 GGPPS;GGPPS1 (2E,6E)-farnesyl diphosphate synthase;GGPP synthase;GGPPSase;OTTHUMP00000036073;OTTHUMP00000216161;OTTHUMP00000216162;OTTHUMP00000216163;OTTHUMP00000216164;dimethylallyltranstransferase;farnesyl diphosphate synthase;farnesyltranstransferase;geranylgeranyl pyrophosphate synthase;geranyltranstransferase APPROVED protein-coding ENSG00000152904 4249 06099 606982 REVIEWED 735681 GGT1 gamma-glutamyltransferase 1 The enzyme encoded by this gene catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein, and is present in tissues involved in absorption and secretion. This enzyme is a member of the gamma-glutamyltransferase protein family, of which many members have not yet been fully characterized and some of which may represent pseudogenes. This gene is classified as type I gamma-glutamyltransferase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] 22 22 q11.23 23309718 23354972 + 24979718 25024972 + 1300048;1601300;1580863;2315577;2315598;2315601;2315604;2315606;2315614;2315593;6480464;6907045 17095717;18291430;18937705;17888134;16772340;15890893;11311965;19936701 1968061;15528406;2904146;19148121;19057528;19034330;18987455;18977241;18940312;18708042;18483283;18464913;18441507;18357469;18242760;18037420;17965490;17895524;17698237;17652002;17601350;17503391;17260973;17141888;17109502;16386375;15694941;15528049;15489334;15461802;15084671;15052692;14754911;12835487;12721789;12532447;12480555;12477932;12447480;12144532;12030366;10756096;10591208;10392451;9862348;9738450;9074928;8889548;8827453;8519693;8104871;8104826;8095045;7906515;7759490;7689219;7673200;2907498;2900635;2896486;2885259;2869484;2573352;2568315;2563599;1378736;28899;19463;18198;11940314;21199427;20205615;20648472;18715564;19695568;19863187;19896490;20090360;20404051;20484958;20850749;21029002;20092819;20129611;20452593;20538960;20691173;21044991;21125972;20972737;21712391;22267845;23000601;21512179;20934730;21521327;23227248;23295001;22010049;22906265;21221836;22132177;21909109;22001757;22266633;22315051;22334565;22424154;20625912;23178147;18486613;23096761;23697277 2678 B5MC34;B5MC36;C9JGF3;C9JIY6;E7EM62;E7ENJ5;E7ERN9;E7ESL5;E7ET76;E7ETJ6;E7ETN1;E7ETR7;E7ETU4;E7EVF8;E9PHP2;P19440 ABBA01055141;ABBA01055142;ABBA01055143;AC000051;AJ006806;AJ006854;AJ007378;AJ007379;AJ007380;AJ007493;AJ230125;AL832738;AMYH01012668;AMYH01012669;AMYH01012670;AP000356;AU077341;BC025927;BC035341;BC065921;BC069326;BC069473;BC069504;BC128234;BC128238;BC128239;BM673976;BU157907;BU164348;CR456494;DQ000492;J04131;J05235;L20490;L20493;L20494;M24087;M24903;NG_008111;NM_001032364;NM_001032365;NM_005265;NM_013430;X60069 AAA02884;AAA02886;AAA02887;AAA35889;AAA35899;AAA52546;AAA52547;AAH25927;AAH65921;AAH69326;AAH69473;AAH69504;AAI28235;AAI28239;AAI28240;ABM84338;ABM86876;CAA07266;CAA07485;CAA07486;CAA07487;CAA07536;CAA42674;CAG30380;CAK54522;CAK54821;NP_001027536;NP_001027537;NP_005256;NP_038347;P19440 Hs.595809;Hs.645535 5015961;5020414;5021298;5037552;5119957;5124792;5127483 D15S1477;D22S732;D8S2279;GDB:190922;J05235;L17688;RH79893 CD224;D22S672;D22S732;GGT;GGT 1;GTG;MGC96892;MGC96904;MGC96963 GGT 1;OTTHUMP00000028921;OTTHUMP00000159078;OTTHUMP00000197959;OTTHUMP00000197960;gamma glutamyl-transferase 1;gamma-glutamyl transpeptidase;gamma-glutamyltranspeptidase 1;glutamyl transpeptidase;glutathione hydrolase 1;leukotriene-C4 hydrolase APPROVED protein-coding ENSG00000100031 4250 01980 612346 REVIEWED 2291779 GGTLC3 gamma-glutamyltransferase light chain 3 Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 22 22 q11.21 18746202 18748028 - 20366205 20368028 - 18357469;7906515;2904146 728226 B5MD39;J3KR28 AC023490;AMYH01012494;L10397;NG_011826 B5MD39 GGT APPROVED pseudo 33426 612340 INFERRED 2291821 GGTLC4P gamma-glutamyltransferase light chain 4 pseudogene 22 22 22 q11.23 8444308 8445840 - 22973816 22975548 - 24643916 24645468 - 18357469;7906515;2904146 729838 ABBA01055132;AMYH01012663;AP000354;L10395;NG_005992 GGT pseudo 33428 INFERRED 2291814 GGTLC5P gamma-glutamyltransferase light chain 5 pseudogene 22 22 q11.21 18940376 18946367 + 20610465 20616367 + 18357469;7906515;2904146 653590 AC011718;L10399;NG_007453 GGT pseudo 33427 INFERRED 1603275 GGT6 gamma-glutamyltransferase 6 GGT6 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 17 17 17 p13.2 4472415 4476069 - 4406978 4410625 - 4460222 4463876 - 6480464;6907045 18357469;16344560;16303743;12477932;8889548 124975 B4DPG6;I3L2G6;J3KPJ0;Q6P531;Q6ZPD7 AA661618;ABBA01054770;AC118754;AK074646;AK129501;AK296645;AK298329;AK300648;AMYH01008037;BC063111;BM720407;CH471108;CQ783528;DA645854;NM_001122890;NM_153338 AAH63111;BAC11110;BAC85168;BAG59245;BAG60578;BAG62336;CAF86704;EAW90432;EAW90433;EAW90434;NP_001116362;NP_699169;Q6P531 Hs.130749 5015619;5037552 D11S3114;D8S2279 FLJ25990;FLJ90165 GGT 6;gamma-glutamyltransferase 6;gamma-glutamyltransferase 6 homolog;gamma-glutamyltransferase 6 homolog (rat);gamma-glutamyltranspeptidase 6;glutathione hydrolase 6 APPROVED protein-coding ENSG00000167741 26891 08293 612341 VALIDATED 1350501 GGTA1P glycoprotein, alpha-galactosyltransferase 1 pseudogene Alpha-1,3-galactosyltransferase (GGTA1) is an enzyme present in most mammals except man, apes, and Old World monkeys. This gene is a remnant of the GGTA1 gene and is a transcribed pseudogene. Aberrant expression of the GGTA1 protein in man can lead to autoimmune diseases and sometimes germ cell tumors. Two transcript variants have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q33.2 94865804 94910805 - 123257140 123302127 - 124217319 124262306 - 6480464 17194757;12499400;12477932;11773054;2108966;1559713;18357469;17213182 2681 Q4G0N0 ABBA01016231;ABBA01016232;ABBA01016233;AF305838;AF378121;AF378122;AF378123;AL359644;AMYH01021692;BC045756;DT220151;J05421;NR_003191;NR_045211 AAL09374;Q4G0N0 Hs.97469 2164053;2180858;5125942 D9S1737;GGTA1;WI-15760 GGTA;GGTA1;GLYT2;MGC48635;a1/3GTP APPROVED pseudo ENSG00000204136 4253 104175 REVIEWED 733414 GGT5 gamma-glutamyltransferase 5 This gene is a member of a gene family that encodes gamma-glutamyl transpeptidase enzymes. This enzyme consists of a heavy and a light chain, and is able to hydrolyze the gamma-glutamyl moiety of glutathione. It converts leukotriene C4 to leukotriene D4, however, it doesn't convert synthetic substrates that are commonly used to assay gamma-glutamyl transpeptidase. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.23 22945622 22971110 - 24615622 24641110 - 1300048;1580863;69846;6480464;6907045 9374738 1676842;18357469;15489334;15461802;12477932;11063908;10591208;10090893;8125298;8095916;6122208 2687 C9JU68;E7EUG3;H7C1X2;P36269 ABBA01055130;ABBA01055131;ABBA01055132;AI581436;AK225661;AK226019;AK292006;AK293683;AK297869;AK304522;AK312401;AL117414;AMYH01012663;AP000353;AP000354;BC011362;BC073999;BT009808;BX425817;CH471095;CT841518;M64099;NM_001099781;NM_001099782;NM_004121 AAA58503;AAH11362;AAH73999;AAP88810;ABM81961;ABM85140;BAF84695;BAG57124;BAG60196;BAG65326;CAB55910;CAJ86448;EAW59643;EAW59644;EAW59645;NP_001093251;NP_001093252;NP_004112;P36269 Hs.437156 1784520;2154990 D22S1236;SHGC-170347 DKFZp566O011;FLJ92733;GGT-REL;GGTLA1 GGT 5;OTTHUMP00000198512;OTTHUMP00000198513;OTTHUMP00000198514;gamma-glutamyl cleaving enzyme;gamma-glutamyl transpeptidase-related enzyme;gamma-glutamyl transpeptidase-related protein;gamma-glutamyltransferase 5;gamma-glutamyltransferase-like activity 1;gamma-glutamyltranspeptidase 5;glutathione hydrolase 5;leukotriene-C4 hydrolase APPROVED protein-coding ENSG00000099998 4260 00666 137168 REVIEWED 731694 GGT7 gamma-glutamyltransferase 7 This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008] 20 20 20 q11.22 30181619 30209755 - 32896184 32924322 - 33432523 33460661 - 1580863;6480464;6907045 18357469;16344560;14702039;12693554;12562771;12477932;12270127;11780052;8104871;20379614 2686 A0PJJ9;A2A2G5;Q9UJ14 ABBA01019175;ABBA01019176;AK090413;AK097100;AK124788;AK299494;AL049709;AMYH01011867;AY138815;BC033745;BC040030;BC101370;BC101371;BC101372;BC141843;BQ013461;BX401449;CA454346;CH471077;DA117929;NM_178026 AAH33745;AAI01371;AAI01372;AAI01373;AAI41844;AAN15928;BAC03394;BAC04950;BAC85950;BAG61452;EAW76249;EAW76250;EAW76251;EAW76252;NP_821158;Q9UJ14 Hs.433738 1676666;1729526;2107151;2162451;2177952;5016781;5017227;5113635 D20S45;G38154;GGTL3__6802;RH18184;RH79709;RH91187;SHGC-67307;WI-15220 D20S101;GGT4;GGTL3;GGTL5;dJ18C9.2 GGT 7;OTTHUMP00000030708;gamma-glutamyltransferase 4;gamma-glutamyltransferase 7;gamma-glutamyltransferase-like 3;gamma-glutamyltransferase-like 5;gamma-glutamyltranspeptidase 7;gamma-glutamyltranspeptidase-like 3;glutathione hydrolase 7 APPROVED protein-coding ENSG00000131067 4259 07488 612342 REVIEWED 1345603 GGTLC2 gamma-glutamyltransferase light chain 2 Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC2, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008] 22 22 q11.22 21318780 21320371 + 22988782 22990368 + 1580863;6480464 18357469;12477932;10591208;9074928;8830654;7689219;22001757 91227 Q14390 ABBA01055094;AI026655;AI138829;AMYH01012639;AW183356;BC069534;BX282400;D87002;NG_000002;NM_199127;X98922 AAH69534;BAA20001;CAA67421;NP_954578;Q14390 Hs.450000;Hs.632765 5021298;5119957;5124792;5127483 D22S732;GDB:190922;J05235;RH79893 GGTL4;MGC96916 OTTHUMP00000199322;OTTHUMP00000205586;gamma-glutamyltransferase light chain 2;gamma-glutamyltransferase-like 4;gamma-glutamyltransferase-like protein 4 APPROVED protein-coding 18596 09971 612339 VALIDATED 1343352 GGTLC1 gamma-glutamyltransferase light chain 1 This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] 20 20 20 p11.1 24039031 24044083 - 23913687 23917416 - 23965690 23969416 - 1580863;6480464 18357469;16289162;15489334;12477932;11780052;10843999;7689219;20932654;17207965 92086 Q9BX51 ABBA01048738;ABBA01048739;AL133466;AMYH01011783;BC040904;CH471133;L20491;L20492;NM_178311;NM_178312 AAA02885;AAA35864;AAH40904;ADQ33123;EAX10125;EAX10126;EAX10127;EAX10128;EAX10129;EAX10130;EAX10131;NP_842563;NP_842564;Q9BX51 Hs.355394 5021298;5119957;5123354;5124792;5127483 D22S732;GDB:190922;J05235;RH69116;RH79893 GGTL6;GGTLA3;GGTLA4;MGC50550;dJ831C21.1;dJ831C21.2 OTTHUMP00000030453;OTTHUMP00000030455;OTTHUMP00000030458;gamma-glutamyl transpeptidase;gamma-glutamyltransferase light chain 1;gamma-glutamyltransferase-like activity 3;gamma-glutamyltransferase-like activity 4;gamma-glutamyltransferase-like protein 6;gamma-glutamyltranspeptidase-like APPROVED protein-coding ENSG00000149435 16437 17037 612338 REVIEWED 734452 GHRHR growth hormone releasing hormone receptor This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010] 7 7 p14 30970161 30985668 + 31003636 31019146 + 728477;704404;1580863;1601338;1601337;6480464;2301422;7240710 12161265;9845677;8528260;15870705 7680413;1333056;12867592;11773624;15944917;9482665;17356054;10461027;19487270;19453261;19209235;19086053;19029774;18785993;18255167;18034778;17546465;16820890;16606630;16284391;16214911;15362970;12853948;12794696;12690205;12656663;12606621;12534354;12444890;12424433;12364462;12220735;12220726;12126741;11875102;11232012;10962031;10429879;10084571;9814493;9467553;8188233;7629234;7559877;20374725;19913121;20628086;20634197;16344560;18240029;18629632;19567534;19622623;19640273;19733620;19897610;19965916;20424473;20453000;18577758;19524226;20734064;20810604;20819778;12036966;21995288;21044116;22489751;21816782;10537133;23052699;22160161 2692 Q02643;Q9HB42;Q9HB43;Q9HB44;Q9HB45 AACC02000087;AB058895;AB065701;ABBA01056814;AC005155;AF282259;AF282260;AF282261;AF282262;AMYH01017151;AV750179;AY557192;CH471073;DB348314;L01406;L09237;NG_021416;NM_000823;S79912;U17579;U42225 AAA35890;AAA58619;AAB18630;AAB18631;AAB18632;AAB37758;AAC23789;AAD14318;AAG15368;AAG15369;AAG15370;AAG15371;AAI66636;AAS59864;BAB40232;BAC05924;EAL24445;EAW93973;EAW93974;EAW93975;EAW93976;EAW93977;NP_000814;Q02643 Hs.733003;Hs.767 1643895;1789548;1789550;2108117;2124440;2137147;2160757;2187727;2187729;2187731;2187733;2187735;2187737;2187739;2187741;2187743 G68145;G68148;G68166;G68167;G68168;G68169;G68170;G68171;G68172;G68173;G68174;GDB:6028546;GHRHR;GHRHR_8370;SHGC-35683;WI-7721 GHRFR;GHRHRpsv;GRFR;IGHD1B GHRH receptor;GRF receptor;OTTHUMP00000202460;OTTHUMP00000202499;growth hormone-releasing hormone receptor APPROVED protein-coding ENSG00000106128 4266 00748 139191;612781 REVIEWED 69101 GH1 growth hormone 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008] 17 17 q24.2 59348295 59349930 - 61994563 61996198 - 704404;1601312;1601313;1580863;2315674;2315659;2315655;2315681;2315684;2315685;2315658;2315682;2315688;2315653;2315650;6480464;6907045;7240710 15713716;9276733;7298798;6777392;19370419;3519044;3097114;2888037;1132599;2931155;3183302;19463895;17584969 21249719;21273694;17636034;17534663;17496728;17492509;17479231;17405836;17400806;17395896;17392003;17357792;17272398;17272397;17234973;17223997;17211558;17211256;17116217;17090643;17082888;17047377;17044098;17038549;17019066;16914737;16845601;16807684;16762973;16572267;16564564;16543404;16517055;16491012;19075184;19064544;19058314;19022915;19016004;19010462;18992148;18974274;18950677;18831980;18800374;18793862;18787048;18785993;18686625;18681778;18640775;18636124;18633341;18631396;18624627;18569023;18567523;18554279;18537700;18504173;18499741;18482854;18464752;18462969;18461004;18432585;18423883;18413425;18409193;18299463;18187617;18178497;18160466;18082739;18054353;18047908;18004746;17998942;17975128;17936052;17927666;17922505;17785368;17726075;17697029;17693614;9360546;5810834;6303755;7984244;8943276;17353931;9144201;8063815;8923468;12552091;7565946;8496314;7782332;11549663;19543094;19453261;19429121;19421410;19407495;19404232;19293581;19278522;19207478;19180878;19144755;19123788;19095751;19094740;19092717;19077426;16424673;16384844;16368752;16368751;16352683;16331968;16322384;16322331;16284391;16214911;16213174;16133148;16109534;16102809;16083754;15950665;15857837;15844470;15784718;15755445;15741328;15701573;15691369;15638293;15591764;15591149;15545704;15489334;15476590;15473132;15472182;15353581;15241820;15118263;15070916;15044591;22322534;15004410;15001589;14998943;14997482;14988388;14761840;14673137;14671660;14631161;14595650;14559725;12930995;12721156;12720086;12666876;12655557;12655556;12592062;12590639;12574219;12566947;12477932;12445833;12435888;12428212;12240900;12198566;12000366;11994274;11916628;11914025;11904318;11864603;11836331;11773624;11502836;10931946;10689634;10469016;10445339;10391209;9556914;9175738;8674830;8552145;8530604;8364549;7862673;7714096;7462247;7356479;7169009;7072716;7028740;6357679;6306568;6269091;6262212;5279528;5279046;5144027;4675454;3912261;3447173;3162714;3004851;2820841;2744760;2180927;1980158;1634529;1549776;1322425;386281;377496;7535773;21933221;20405138;19913121;20580999;20592127;20628086;20427283;17500058;19051037;19067728;19386527;19480608;19491373;19500600;19567515;19567534;19568604;19579232;19587145;19603307;19698976;19761807;19772878;19773097;19773279;19797429;19813164;19837935;19916171;19952226;20020582;20150954;20164039;20164294;20168335;20190159;20190537;20222001;20233782;20333869;20403354;20418654;20453000;2825030;19955757;19955758;20858702;20132087;20734064;20351314;20395397;9353194;20472479;20472480;20598930;20801067;22364960;22386777;19845749;19472088;20002733;20426845;20682777;20650818;21212012;20863500;21277631;21705979;22524398;22833680;21632809;21554434;22431516;20651471;20820130;21273761;21415161;21459126;21502796;21679697;21274339;21711161;21852148;21958002;21667426;21741628;21849508;21856789;21711374;23182822;23182825;21944866;20483505;21856788;21535073;21777655;22048966;22170795;20651469;21347581;22094313;22253814;22318747;22334636;22072432;22278170;22307889;22952901;22669946;22672824;23417163;23428872;22465725;23208451;22016154;23438236;22664570 2688 B1A4G6;B1A4G7;B1A4G9;B1A4H0;P01241 A00469;A12770;ABBA01035315;AC127029;AF110644;AF185611;AMYH01008552;AY613431;AY613432;BC062475;BC075012;BC075013;BC090045;CH471109;EU421712;J03071;M13438;M14398;NG_011676;NM_000515;NM_022559;NM_022560;NM_022561;NM_022562;V00519;V00520 AAA52549;AAA52554;AAA98618;AAD48584;AAG09699;AAH62475;AAH75012;AAH75013;AAH90045;AAT11508;AAT11509;ABZ88711;ABZ88712;ABZ88713;ABZ88714;ABZ88715;CAA00065;CAA01057;CAA23778;CAA23779;EAW94233;EAW94239;EAW94251;EAW94261;NP_000506;NP_072053;NP_072054;NP_072055;NP_072056;P01241 Hs.655229 1680024;1694912;1733424;1777387;1791996;1791998;1794918;5014941;5491398 D17S1285;G44343;GHI;PMC134699P2;PMC134699P3;PMC84908P1;RH77971;RH93308;STS-J03756 GH;GH-N;GHN;IGHD1B;hGH-N pituitary growth hormone;somatotropin APPROVED protein-coding ENSG00000259384 4261 00751 139250;173100;262400;262650;612781 REVIEWED 2292056 GHRLOS ghrelin opposite strand/antisense RNA This gene is an antisense gene of the ghrelin/obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNAs. [provided by RefSeq, Jan 2013] 3 3 3 p25.3 10263246 10270941 + 10327438 10335133 + 10327438 10335133 + 18954468;17727735 100126793 ABBA01020379;ABBA01020380;AC022384;AMYH01012969;BM991802;BX118778;EF549558;EF549559;EF549560;EF549568;EF549570;EU072081;EU072082;EU789528;EU789531;EU789532;EU789534;EU789535;EU789536;EU789537;EU789538;EU789539;EU789540;EU789541;EU789542;EU789543;EU789544;EU789545;EU789546;NG_033090;NR_004431;NR_024144;NR_024145;NR_024146;NR_073566;NR_073567;NR_073568 Hs.672979 1653892;1671030;2187753;2187871;2187873;2187875 G72347;G72348;G72349;G72355;RH36438;SHGC-34896 GHRL-AS1;GHRLAS;NCRNA00068 APPROVED miscrna 33885 VALIDATED 1344971 GH2 growth hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008] 17 17 q24.2 59311304 59312955 - 61957572 61959302 - 1580863;6907045 22387044;8943276;18356738;17701665;15718272;15563602;15531513;15489334;12946357;12477932;12213191;11994274;9820620;9709963;9367422;7384802;7169009;7072716;6306568;6286668;6262212;3379057;2744760;2460050;2196278;1980158;1955498;1378436;19844941;20005926;20403354;22489624;16344560;22363400 2689 P01242;Q6FH54 AB451332;AB451477;ABBA01035316;AC040958;AF006060;AF006061;AK312194;AMYH01008550;AU139016;BC020760;CF528273;CH471109;CR541902;CR541924;EU421715;J03071;J03756;K00470;M38451;NM_002059;NM_022556;NM_022557;NM_022558 AAA35891;AAA52552;AAA98619;AAB59547;AAB59548;AAB71828;AAB71829;AAH20760;ABZ88719;ABZ88720;ABZ88721;ABZ88722;BAG35127;BAG70146;BAG70291;CAG46700;CAG46722;EAW94238;EAW94248;EAW94252;EAW94258;NP_002050;NP_072050;NP_072051;NP_072052;P01242 Hs.406754 1777385;5014941;5491398 GHI;RH66837;STS-J03756 GH-V;GHL;GHV;hGH-V growth hormone variant;placenta-specific growth hormone;placental-specific growth hormone 2316339 GLUCO234_H APPROVED protein-coding ENSG00000136487 4262 00750 139240 REVIEWED 1603379 GHDC GH3 domain containing 17 17 17 q21.2 36995332 37000777 - 37594632 37599739 - 40341105 40346550 - 6480464 16344560;16303743;15489334;14702039;12477932;11735219;11161808 84514 K7EJT7;K7EL54;K7EQ41;K7ESN3;Q8N2G8 ABBA01006434;AC099811;AF316997;AK074700;AK075277;AK122777;AK123075;AK298933;AK307058;AK307628;AMYH01008391;BC011056;BC022784;CH471152;CQ783605;DB084267;NM_001142622;NM_001142623;NM_032484;NR_024573 AAH22784;AAK15472;BAC11146;BAC11514;BAG53722;BAG61036;CAF86772;EAW60811;EAW60812;EAW60813;EAW60814;EAW60815;EAW60816;NP_001136094;NP_001136095;NP_115873;Q8N2G8 Hs.38039 2107265;2144231;2150046 LGP1__7409;RH17547;RH78763 D11LGP1;LGP1 D11lgp1e-like;GH3 domain-containing protein;homolog of mouse LGP1 protein-coding ENSG00000167925 24438 16352 608587 VALIDATED 69149 GHR growth hormone receptor This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] 5 5 p13-p12 42459783 42757683 + 42423877 42721980 + 704404;1601315;1601316;1580863;2301716;2307367;2307368;2307364;2307366;2307374;2307382;2307363;2307365;2307378;2307370;2307369;2307380;2307376;6480464;6907045;7240710 2813379;7565946;17287408;11469393;10990443;15066219;12054124;14632687;11126270;17537658;12529387;12679928;10541297;10614635;12654216;12865352 21273694;17514010;17462934;17426087;17405847;17350302;17347571;17289896;17220348;17148568;17137217;17090634;17082603;17003087;16757551;16741161;16722931;16582564;16572267;16394090;16381017;16372230;16352683;16291706;16291702;16246940;16213173;16116438;15891957;15857837;15755445;15751611;15743767;15583394;15563602;15196705;15085728;15061875;15001620;14718574;14678285;14551225;14517972;12907755;12846737;12756585;12735788;12679461;12611612;12586763;12423626;12088868;11924928;11851338;11785980;11158048;10976913;10870033;10866662;10764769;10585430;10567404;10551776;10502458;10391209;9851797;9814495;9632636;9360546;9341147;9140387;9121492;9058373;9024232;8943276;8923468;8901592;8889548;8855247;8702683;8636303;8504296;8488849;8421103;8360189;8063815;7862673;7782332;1549776;2825030;8137822;19487270;19486024;19453261;19417039;19407498;19344888;19344073;19336510;19204726;19189684;19116246;19116245;19089622;19084217;19064572;19050057;18974274;18950677;18832799;18820897;18793346;18676680;18648510;18636124;18611972;18488018;18445665;18420710;18404972;18401200;18397980;18299312;18204098;18182091;18160465;18073295;18054353;18031312;18001530;17991764;17986824;17973940;17957148;17925340;17884454;17849745;17764692;17761766;17711923;17706034;17671221;17666591;17622584;17598975;17573420;17555512;17555507;17547682;17546465;7540178;2779634;2776934;2776481;2406245;2369845;1999489;1955498;1569971;1284474;7535773;7608270;22433856;19913121;20592127;20628086;20634197;12135564;21347402;20734064;20810604;20849725;20855935;21073120;12477932;12552091;17274879;17474147;17500058;19167335;19170196;19439509;19447840;19540305;19541519;19584188;19605543;19625176;19634821;19692168;19701549;19730683;19812236;19815155;19842933;19844941;19850678;19864451;20013551;20039885;20149700;20219401;20382688;20421852;20447065;20453000;20540360;7984244;19681916;9353194;22034227;22386777;1301391;20664532;10715538;11316758;11513560;11719288;15042833;19169479;21238539;21436896;9075743;9886834;11456111;21195069;20105189;22077984;23162096;21470351;21846964;21310852;21623854;22052808;21386804;21820924;21900382;21980433;22278433;22162472;22456308;21913951;22702213;23288882;23192981;21744231;23426819;23006423;23607312 2690 E7ES05;E9PCN7;F5H7X2;P10912 ABBA01024240;ABBA01024241;AC093225;AC113368;AC114941;AC116343;AF155912;AF210633;AF230800;AF230801;AF322014;AF322015;AJ009889;AJ131868;AJ278681;AJ295613;AJ422105;AMYH01015052;BC136496;BM719293;BU625645;CH471119;CQ832616;CS482307;HC250959;HC311148;HM761441;M28458;M28459;M28460;M28461;M28462;M28463;M28464;M28465;M28466;M28467;NG_011688;NM_000163;NM_001242399;NM_001242400;NM_001242401;NM_001242402;NM_001242403;NM_001242404;NM_001242405;NM_001242406;NM_001242460;NM_001242461;NM_001242462;S97393;X06562;Z11801;Z11802;Z11848;Z11849;Z11850;Z11851;Z11853 AAA52555;AAD15015;AAF71399;AAI36497;CAA29808;CAA77845;CAA77846;CAA77872;CAA77873;CAA77874;CAA77875;CAA77877;CAC06613;CAC06615;CAH05763;CAM36317;CBJ05777;CBJ21229;EAW56023;NP_000154;NP_001229328;NP_001229329;NP_001229330;NP_001229331;NP_001229332;NP_001229333;NP_001229334;NP_001229335;NP_001229389;NP_001229390;NP_001229391;P10912 Hs.125180;Hs.684632;Hs.688223 1649947;1690666;1699884;1713013;1720193;1720873;1727627;1731369;1748841;1781192;1795916;1853226;2142319;2154115;2173216;7184802 D18S21;D5S1587E;G15875;G59264;G63224;GHR_332;L28287;RH103550;RH120597;RH124010;RH75947;SHGC-110510;SHGC-14459;STS-X06562;human.GHR GHBP GH receptor;OTTHUMP00000120020;growth hormone binding protein;growth hormone receptor;serum binding protein;somatotropin receptor APPROVED protein-coding ENSG00000112964 4263 02971 143890;262500;600946;604271 REVIEWED 1345873 GHITM growth hormone inducible transmembrane protein 10 10 10 q23.1 79894096 79908234 + 85889165 85903291 + 85899185 85913311 + 1580863;6480464 11256614;18417609;16381901;15489336;15489334;15164054;12975309;12477932;11230166;11076863;9110174;8619474;8125298;20819778;20877624;16385451;18440869;21903422;21693764;21890473;21906983 27069 Q5VT94;Q9H3K2 AB009685;ABBA01003761;AC022389;AF060923;AF078863;AF131820;AF161400;AK098770;AK130094;AK130097;AK225318;AK292864;AK297960;AK298332;AK299937;AL136713;AL603756;AL834502;AMYH01002890;AY358824;BC010354;BC022872;CH471142;CR533519;CS072954;NM_014394 AAD20052;AAD44495;AAF28960;AAG43135;AAH10354;AAQ89183;BAA93049;BAF85553;BAG60272;BAG60581;BAG61770;CAB66648;CAG38550;CAH56398;CAI93684;CAL38307;CAL38561;EAW80367;EAW80368;EAW80369;EAW80370;NP_055209;Q9H3K2 Hs.352656 1667802;1735998;2156294;2164856;2164858;5122440;5494146 A001T01;D10S1287E;D10S2359;G19610;RH141018;SHGC-167;WI-18665 DERP2;DKFZp566C0746;FLJ26584;HSPC282;MICS1;My021;PTD010;TMBIM5 OTTHUMP00000019998;OTTHUMP00000019999;dermal papilla-derived protein 2;growth hormone-inducible transmembrane protein;mitochondrial morphology and cristae structure 1;transmembrane BAX inhibitor motif containing 5;transmembrane BAX inhibitor motif-containing protein 5 protein-coding ENSG00000165678 17281 17038 VALIDATED 737566 GHRH growth hormone releasing hormone The protein encoded by this gene belongs to the glucagon family and is a preproprotein that is produced in the hypothalamus. The preproprotein is cleaved to form a 44 aa factor, also called somatocrinin, that acts to stimulate growth hormone release from the pituitary. Variant receptors for somatocrinin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. [provided by RefSeq, Jul 2008] 20 20 q11.2 35312903 35318706 - 35879489 35885299 - 1580863;2301425;2289976;2289972;2289974;2301426;2301422;2301423;2301424;5687168;5687177;5687742;5687196;6480464;5687169 11163834;12364462;1973621;10022420;10962030;15870705;15784701;11710593;21846799;1425411;16750036;16859658;21406516 10537133;3008329;7680413;6192430;1333056;12867592;15538933;18329818;11773624;8421089;19088192;19086053;17546465;17372203;16606630;16214911;15489334;15362970;12511850;12477932;12424433;12213676;12186980;12126741;11780052;8670892;8020943;6812220;6415488;3918305;3029387;3002494;2992358;2857452;2854259;20602615;20634197;12036966;18240029;18684444;18996102;19453261;19487270;19622623;20150954;20453000;20734064;20810604;20673733;19524226;20633588;20372804;21196925;21478211;20169434;20869425;21715545;20518847;21274339;20843274;22423511 2691 P01286 ABBA01006617;AI631051;AL031659;AMYH01011895;AW134884;BC098109;BC098161;BC099727;BX102214;CH471077;L00134;L00137;NM_001184731;NM_021081;X00094 AAA52608;AAA52609;AAH98109;AAH98161;AAH99727;CAA24955;CAA24956;EAW76072;NP_001171660;NP_066567;P01286 Hs.37023 1748449;1748451;1748453;1748455;1774563;2125059 G66937;G66938;G66939;G66940;RH71010;RH71427 GHRF;GRF;INN;MGC119781 OTTHUMP00000030915;OTTHUMP00000030916;growth hormone-releasing factor;growth hormone-releasing hormone;sermorelin;somatocrinin;somatoliberin;somatorelin APPROVED protein-coding ENSG00000118702 4265 11752 139190 REVIEWED 1322085 GID4 GID complex subunit 4 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18883766 18912866 + 17883336 17912443 + 17942611 17971718 + 737633;6480464 12477932 15489334;14702039;11997338;11840190 79018 B3KXL6;K4DI96;K7ELH7;K7ENE2;Q8IVV7 ABBA01009740;ABBA01009741;AC087163;AC087164;AK074284;AK127580;AK315083;AMYH01008163;BC000636;BC041829;CH471196;NM_024052 AAH00636;AAH41829;BAB85036;BAG54528;EAW55673;EAW55674;NP_076957;Q8IVV7 Hs.187422 1698448;1773280;2182403 RH102773;RH15885;RH17943 C17orf39;MGC3048;VID24 GID complex subunit 4, VID24 homolog;OTTHUMP00000065702;glucose-induced degradation protein 4 homolog;hypothetical protein LOC79018;uncharacterized protein C17orf39;vacuolar import and degradation 24;vacuolar import and degradation protein 24 homolog APPROVED protein-coding ENSG00000141034 28453 12683 VALIDATED 1320542 GIGYF1 GRB10 interacting GYF protein 1 7 7 7 q22 95007691 95017430 - 100115066 100124806 - 100277130 100286870 - 6480464 17672918;16964243;12771153;12690205;12477932;11239002;9799793;3;16713569;19322201 64599 A2VDH9;O75420 AADB02010717;ABBA01013192;AC009488;AF086157;AF088067;AF289554;AMYH01017740;AY176044;BC018563;BC036595;BC129991;BQ069946;CH236956;CH471091;NM_022574 AAI29992;AAI72395;AAL55738;AAO46888;EAL23822;EAW76496;EAW76497;EAW76498;NP_072096;O75420 Hs.414396 1700490;2012534;2156557 GDB:4585735;REN77196;RH103866 GYF1;PERQ1 GRB10-interacting GYF protein 1;GYF domain containing 1;OTTHUMP00000211357;PERQ amino acid rich, with GYF domain 1;PERQ amino acid-rich with GYF domain-containing protein 1;postmeiotic segregation increased 2-like 12 protein-coding ENSG00000146830 9126 10145 612064 VALIDATED 730941 GHSR growth hormone secretagogue receptor This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010] 3 3 q26.31 173645645 173648897 - 172161081 172166246 - 1625252;1625270;1642818;6480464;7240710 16511605;16511600;15788704 18064392;17885924;17601657;17428235;17324965;17229547;17018595;16787234;16606630;16582936;16567594;16527811;16362631;16020971;15616037;15585554;15489334;15383539;15080774;15062547;14763915;14755130;14719137;14715878;14715843;14701677;12574228;12511847;12477932;12045256;11356716;11322507;11322498;11227737;10604470;9852035;9092793;601898;8688086;15232612;17494105;12890514;19165163;19088192;19077438;19058789;19056482;19024096;18945286;18828808;18698404;18647811;18573679;18426818;18425803;18375957;22327910;21269581;19913121;20586762;20628086;19262695;19453261;19487270;19506043;19670151;19782690;19789204;19876004;19887765;20150876;20164039;20185531;20201926;20346234;20404923;20453000;20468064;20599926;16754659;20616368;20920174;20804798;20861603;20727371;21084395;22465164;23161547;21646290;22846991;21606657;21616122;21145775;22573814;22632856;22632858;21903149;21664965;21956643;22411573;22876551;22117076;22457237;21930173;20636306;20881960;22899222;23079033 2693 Q92847 ABBA01058652;AC069523;AF099083;AF369786;AMYH01013652;AY322544;AY429112;BC069068;BC069374;BC113547;CH471052;CS174239;FB660530;JA417646;NG_021159;NM_004122;NM_198407;U60179;U60181 AAC50653;AAC50654;AAC97506;AAH69068;AAH69374;AAI13548;AAK71539;AAK71540;AAP84357;AAR07907;ADR82965;CAJ34548;CAS01830;CCD32722;EAW78468;EAW78469;NP_004113;NP_940799;Q92847 Hs.130212 2107153;2187745;2187747;2187749;2187751;5494025 G68325;G68326;G68327;G68328;GHSR__6803;UniSTS:480752 GH-releasing peptide receptor;GHRP;GHS-R;OTTHUMP00000211092;OTTHUMP00000211093;ghrelin receptor;growth hormone secretagogue receptor type 1 APPROVED protein-coding ENSG00000121853 4267 03541 601898;604271 REVIEWED 730950 GHRL ghrelin/obestatin prepropeptide This gene encodes ghrelin-obestatin preproprotein, which generates ghrelin and obestatin. Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor and is involved in regulating growth hormone release. Obestatin was initially reported to be an endogenous ligand for the orphan G protein-coupled receptor GPR39 and was involved in satiety and decreased food intake; however, these findings are controversial. Recent reports show that obestatin is involved in inhibiting thirst and anxiety, improving memory, regulating sleep, affecting cell proliferation, and increasing the secretion of pancreatic juice enzymes. Alternative promoters and alternative splicing result in multiple transcript variants, some of which encode different protein isoforms and some of which do not encode a protein but may regulate the ghrelin-obestatin preproprotein expression. In addition, antisense transcripts for this gene have been identified and may also function in regulation of the ghrelin-obestatin preproprotein expression. [provided by RefSeq, Oct 2008] 3 3 p26-p25 10302434 10307409 - 10327434 10334631 - 704404;1625021;1642818;2313748;2313750;2313747;2313749;2313745;2313744;6480464;7240710;7242429;7242430;7242553;7242555;7242556;7242563 16204371;15788704;18996292;18657539;19046237;18848536;19188925;19733151;20930430;19625378;18809976;18552255;12576449;18025762 16394173;19193342;17596538;11549663;10604470;15350694;15232612;15576457;17494105;16491079;17392603;16511605;15572208;15158140;18329818;12566947;15564328;15292338;17113048;15039149;15531532;19491387;19453261;19424595;19419933;19397477;19385031;19369431;19367093;19352215;19339394;19337009;19327128;19324904;19318377;19289536;19262695;19246923;19213003;19199214;19198916;19191138;19165163;19160571;19154949;19139783;19120912;19112387;19106245;19100004;19077438;19073905;19059729;19058789;19057526;19054628;19049992;19041092;19031219;19028051;19022392;19011469;19004538;18996102;18992263;18987287;18979162;18973889;18945286;18831996;18828808;18797403;18728162;18714814;18703566;18700166;18697865;18677577;18665387;18663995;18636124;18622896;18611262;18602197;18595130;18588931;18584199;18567824;18563283;18561093;18552514;18550870;18547344;18534636;18510797;18492761;18480381;18466078;18461271;18452507;18450953;18448790;18425803;18419786;18416474;18404598;18401836;18401204;18398047;18397989;18380540;18375957;18362297;18350633;18343535;18325633;18308399;18299465;18283260;18280066;18274638;18271694;18271692;18250617;18249219;18246525;18239581;18239577;18205273;18198306;18182091;18178497;18166814;18075283;18071345;18070755;18070417;18064390;18055420;18051927;18049109;18001718;17992644;17992641;17957159;17957153;17952858;17952631;17949242;17923797;17893689;17890503;17884293;17884032;17869379;17766711;17727735;17719561;17717076;17711921;17709151;17689128;17688884;17667848;17666475;17652221;17646723;17635077;17616856;17616759;17609506;17601657;16322325;16322288;16284174;16210421;16207498;16204363;16198134;16191452;16189175;16188911;16187069;16182310;16181346;16131812;16108842;16014402;15998770;15998659;15972581;15956087;15955378;15894681;15890737;15863960;15855322;15824975;15820771;15795476;15786542;15775713;15758554;15752580;15745452;15699539;15688209;15657368;15648019;14530511;14527669;14521948;14514639;12975309;12974878;12931038;12907757;12892652;12887287;12851720;12829648;12824869;12739020;12732215;12727993;12727973;12727951;12679456;12679444;12679442;12663466;12656662;12606621;12553549;12547722;12531885;12519848;12519838;12477932;12429880;12414809;12364482;12364442;12181387;12161552;12161511;12153739;12133904;12107502;12107501;12091883;12050285;12050239;11815627;11788653;11724768;15604212;15585547;15579749;15538935;15522942;15522935;15489334;15476444;15472212;15382608;15340161;15292475;15292337;15292322;15292316;15256494;15254759;15248833;15248831;15248830;15231997;15192277;15181097;15181083;15181038;15142980;15132729;15126574;15126531;15117840;15090637;15075452;15070937;15070936;15070928;15070922;15057671;15057670;15057669;15052530;15001628;14962995;14871884;14764817;14763915;14724664;14715878;14715869;14681862;14671163;14671152;14614562;14602798;14602792;14585085;14559725;14551671;17595255;17587401;17562288;17556836;17551399;17544318;17543279;17530417;17495198;17449920;17436104;17405826;17389697;17347386;17344504;17336462;17324965;17317872;17317021;17311892;17289852;17280594;17258885;17201814;17197106;17187020;17184731;17167339;17138722;17119003;17079741;17074331;17068144;16979415;16959833;16957407;16954444;16954159;16949080;16942934;16929151;16929150;16921495;16868147;16865101;16839485;16793966;16759313;16735961;16734390;16720664;16718628;16606630;16601073;16563563;16552751;16549524;16538179;16527811;16483881;16476508;16472909;16459454;16423919;16420657;16391832;16384853;16363872;16341674;16340041;22657566;22611317;10461027;1619020;11502844;11314756;11306336;11227737;11196643;11159851;11158061;11089560;11061542;10930375;21368060;21274325;21318058;21667426;21722955;21274374;19913121;20586762;20602615;20628086;20172008;20339027;19863750;19955759;20553778;20595321;20734064;20920174;21047193;21474128;19845749;20338210;16754659;20382189;19797396;20367557;20376885;20472480;21113212;19913442;20466571;20509935;18616714;18624998;18667202;18976754;19039650;19054012;19261663;19262995;19282046;19325538;19393347;19406177;19408254;19433492;19491251;19521111;19560502;19587265;19589259;19601914;19617874;19628676;19665916;19666068;19670151;19705241;19770497;19773372;19811274;19834878;19841105;19876004;19884263;19885611;19888469;19899406;19914322;19916170;19952806;19965946;20004655;20010782;20096985;20145424;20150876;20152820;20164039;20180161;20185531;20188316;20194708;20379614;20453000;20468064;20517652;18577758;20537572;20963666;21040709;20157287;20616368;19722179;20734087;20298456;20421852;20503481;20411479;20581789;20195769;20804798;20813143;20861603;20688108;20184601;20580037;21165813;21225542;20858966;21449093;21176234;21358603;21370247;21178976;21448464;21169422;21195705;20945961;21075359;21478211;20921904;21504941;21539509;21693726;21386753;22180062;22315469;22174388;22869322;23509106;20585204;21121713;21345363;21349316;21354462;21419192;21453749;21453750;21458525;21458527;21459124;21459126;21554911;21565248;21616120;21616122;21050078;21761369;21784109;21924713;21340501;21804576;21742599;22441120;22876551;21294754;21502892;21667437;22171144;21855160;22167137;22477150;22481313;23056203;23321590;21782925;21906630;21930173;22005651;22074572;22143318;22252944;22260823;22300359;22523830;21598092;21889930;22306927;22311236;22442280;22635094;22706426;22067021;22369141;22936258;21614024;22601779;23391977;22740095;23142314;23489688;22588952;22632856;22632857;22632858;22954236;22954902;23257416;22366529;23524619;23567762;23571102;22763970;23029165;23076509 51738 A8DN24;E7ESW0;Q9H3R3 AB029434;AB035700;ABBA01020379;ABBA01020380;AC022384;AF296558;AJ252278;AMYH01012969;AY184207;AY359053;AY701846;BC025791;BM854032;CH471055;EF139854;EF139855;EF139856;EF139857;EF549557;EF549561;EF549562;EF549563;EF549564;EF549565;EF549566;EF549567;EF549569;EF549571;EF549572;EF549573;EF549574;EF549575;EU072083;EU072084;EU072085;EU072086;EU072087;HC084376;HC084384;NG_011560;NG_033090;NM_001134941;NM_001134944;NM_001134945;NM_001134946;NM_016362;NR_024132;NR_024133;NR_024134;NR_024135;NR_024136;NR_024137;NR_024138 AAG10300;AAH25791;AAO27351;AAQ89412;AAU93610;ABM81944;ABM85124;ABQ40356;ABQ40357;ABQ40358;ABQ40359;ABQ40360;ABQ40361;ABQ40362;ABV55186;ABV55187;ABV55188;ABV55189;ABV55190;BAA89371;BAB19045;CAB65733;CBI12214;CBI12216;EAW64074;EAW64075;EAW64076;NP_001128413;NP_001128416;NP_001128417;NP_001128418;NP_057446;Q9UBU3 Hs.590080;Hs.672979 1653892;1671030;2187753;2187871;2187873;2187875 G72347;G72348;G72349;G72355;RH36438;SHGC-34896 MTLRP;obestatin OTTHUMP00000207790;OTTHUMP00000207791;OTTHUMP00000207792;OTTHUMP00000207793;OTTHUMP00000207794;OTTHUMP00000207795;OTTHUMP00000207796;OTTHUMP00000207797;OTTHUMP00000207798;OTTHUMP00000226986;appetite-regulating hormone;ghrelin precursor;ghrelin, growth hormone secretagogue receptor ligand;ghrelin/obestatin preprohormone;growth hormone secretagogue;growth hormone-releasing peptide;motilin-related peptide;prepro-appetite regulatory hormone 2289503;2289518 BW443_H;BW454_H APPROVED protein-coding ENSG00000157017 18129 05638 601665;605353 REVIEWED 735662 GIF gastric intrinsic factor (vitamin B synthesis) This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008] 11 11 q13 59353322 59369550 - 59596746 59612974 - 704404;1580863;6480464;7240710 19036097;18338170;17954916;15738392;15736970;15489334;14695536;14576042;12477932;9572993;5044916;4045300;2071148;20615890;20237569;8886952;22929189;21822266;11788601;22556038 2694 E9PM21;P27352 ABBA01021509;AK301290;AK301295;AK314275;AMYH01003663;AP002347;BC037958;CH471076;NG_008120;NM_005142;X76562 AAH37958;ABM83395;ABM86608;BAG36935;BAG62848;BAG62853;CAA54061;EAW73860;NP_005133;P27352 Hs.110014 1660260;1770256;5120155 GDB:197843;GIF;SHGC-35409 IF;IFMH;INF;TCN3 OTTHUMP00000235877;gastric intrinsic factor;intrinsic factor APPROVED protein-coding ENSG00000134812 4268 02024 261000;609342 REVIEWED 1349380 GIMAP3P GTPase, IMAP family member 3 pseudogene 7 7 7 q36.1 145001088 145001914 - 150074960 150075786 - 150444013 150444819 - 1303371 15474311 474345 AACC02000108;ABBA01035176;AC006479;AJ580951;AMYH01018140;NG_026525 GIMAP3 pseudo 30975 INFERRED 1346039 GID8 GID complex subunit 8 20 20 20 q13.33 58246068 58256455 + 61039886 61050272 + 61569441 61579827 + 6480464 16751776;17353931;15489334;14702039;12559565;12477932;12107413;11780052;17207965;19596235;22939629;22863883;12938929;21139048;21890473;21906983;23402259;23667531;19322201;17467196 54994 B4DS00;Q9NWU2 ABBA01021377;AK000609;AK025775;AK299509;AL117379;AL121673;AMYH01012067;BC031819;BC032120;BQ931571;BQ935273;CD676269;CH471077;DQ601588;NM_017896 AAH32120;ADQ32232;BAA91285;BAG61462;EAW75318;EAW75319;NP_060366;Q9NWU2 Hs.353013 1681127;1682539;1683559;1686310;1688362;1688622;1693688;2117409 D20S1106;RH26943;RH39001;RH66099;RH77850;RH78524;SHGC-58609;WIAF-2552 C20orf11;TWA1 GID complex subunit 8 homolog;OTTHUMP00000043372;glucose-induced degradation protein 8 homolog;protein C20orf11;two hybrid associated protein 1;two hybrid-associated protein 1 with RanBPM APPROVED protein-coding 15857 12738 611625 VALIDATED 1350070 GIMAP1 GTPase, IMAP family member 1 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010] 7 7 7 q36.1 144970795 144975334 + 150044631 150049186 + 150413645 150421368 + 1303371;6480464 15474311 18701445;15489334;14702039;12690205;12477932;11814688;16344560;20194894;19454010;22505724 170575 Q8WWP7 AACC02000108;ABBA01035177;AC006479;AJ306287;AK091818;AK315127;AMYH01018140;AW029312;BC040736;CH471173;DA817535;NM_130759 AAH40736;BAC03754;BAG37580;CAC83740;EAL24485;EAW54095;NP_570115;Q8WWP7 Hs.647079 5109281 D1S1425 HIMAP1;IMAP1;IMAP38 GTPase IMAP family member 1;OTTHUMP00000212219;immunity associated protein 1;immunity-associated protein 1 APPROVED protein-coding ENSG00000213203 23237 16278 608084 REVIEWED 1314368 GIGYF2 GRB10 interacting GYF protein 2 This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 2 2 q37.1 233270259 233433531 + 233562015 233725287 + 1580863;6480464;7240710 12638082;16120600;19482505;19429085;19348706;19321232;19279319;19250854;19133664;19117363;18923002;18358451;17081983;15489334;15302935;14702039;12771153;12477932;12168954;9734811;9225980;8889549;22751931;19449032;19562763;19615732;19638301;19845746;20004041;20044296;20060621;20178831;20379614;20685231;20816920;20641165;20696395;20936779;22503729;22115759;21139048;21890473;21906983;19906271;20670374;21360678;21963094;23000965;23199482;19596686;21726808;20301402;22586326;20531386;22505724 26058 B8ZZD2;C9IYH5;C9J0V6;C9J1A6;C9J7G1;C9JC65;C9JH18;C9JH78;C9JHT0;C9JHW1;C9JPV7;C9JRZ2;C9JW88;C9JXQ0;C9JZC0;E7ESB6;E9PC50;F8WBF1;F8WCD5;I1E4Y6;Q6Y7W6 AB014542;ABBA01002006;ABBA01002007;ABBA01002008;AC016692;AC064852;AK001739;AK027021;AK297162;AK299418;AK302998;AMYH01011571;AY176045;BC008072;BC014047;BC029456;BC043402;BC053684;BC093090;BC108691;BC136251;BC143352;BC146775;BE220828;BG527686;BX537885;BX538172;BX538321;BX647172;BX647505;CH471063;DC346582;NG_011847;NM_001103146;NM_001103147;NM_001103148;NM_015575;NR_103492;NR_103493;NR_103494;NR_103495 AAH08072;AAI36252;AAI46776;AAO46889;ACE86508;ACE86512;ACE87189;ACE87193;BAA31617;BAA91873;BAG59659;BAG61400;BAG64133;CAD97881;CAD98095;EAW71016;EAW71017;EAW71018;EAW71020;NP_001096616;NP_001096617;NP_001096618;NP_056390;Q6Y7W6 Hs.565319 1299966;1646454;1681382;1685423;1721197;1851144;1856952;2107695;2108183;2115491;7187428 D2S206;G59437;KCNJ13_7654;RH68362;RH94056;RH94296;SHGC-33096;STS-Z40945;TNRC15__5112;WIAF-2198 DKFZp686I15154;DKFZp686J17223;FLJ23368;GYF2;KIAA0642;PARK11;PERQ2;PERQ3;TNRC15 GRB10-interacting GYF protein 2;GYF domain containing 2;OTTHUMP00000203484;OTTHUMP00000203485;OTTHUMP00000203486;OTTHUMP00000203487;OTTHUMP00000203488;OTTHUMP00000203489;PERQ amino acid rich, with GYF domain 2;PERQ amino acid rich, with GYF domain 3;PERQ amino acid-rich with GYF domain-containing protein 2;Parkinson disease (autosomal recessive, early onset) 11;trinucleotide repeat containing 15;trinucleotide repeat-containing gene 15 protein APPROVED protein-coding ENSG00000204120 11960 11639 607688;612003 REVIEWED 6770684 GIMD1 GIMAP family P-loop NTPase domain containing 1 4 q24 107279340 107288592 - 6480464 9847074 100507096 P0DJR0 ABBA01063740;AC092458;AC093680;AMYH01014444;DN831977;NM_001195138 NP_001182067;P0DJR0 Hs.722750 1339601;1707674;2161803 D4S1531;G33462;SHGC-82007 GIMAP family P-loop NTPase domain containing 1;GIMAP family P-loop NTPase domain-containing protein 1;GTPase IMAP family member GIMD1 protein-coding 44141 PROVISIONAL 1346525 GIMAP2 GTPase, IMAP family member 2 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144939889 144947829 + 150013727 150021662 + 150382794 150390729 + 1303371;1580863;6480464 15474311 15489334;12690205;12477932;11814688;20516611;17207965;20237496 26157 C9JND7;Q9UG22 AACC02000108;ABBA01035177;ABBA01035178;AC006479;AK074199;AL110151;AMYH01018140;BC013934;BC032345;BG687383;CH471173;NM_015660 AAH13934;AAH32345;ADQ31716;CAB53662;EAL24484;EAW54096;EAW54097;EAW54098;EAW54099;NP_056475;Q9UG22 Hs.647071 1774641;2186204 G29246;STS-T96157 DKFZp586D0824;HIMAP2;IMAP2;MGC24275 GTPase IMAP family member 2;OTTHUMP00000212217;immunity associated protein 2;immunity-associated protein 2 APPROVED protein-coding ENSG00000106560 21789 16279 608085 REVIEWED 1348237 GINGF2 gingival fibromatosis, hereditary, 2 7240710 11386754 64644 1341638 D5S1721 14252 1603796 GIMAP6 GTPase, IMAP family member 6 This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011] 7 7 7 144879549 144886767 - 149953396 149960374 - 150322463 150329736 - 6480464 16344560;15474311;14702039;12690205;12477932;11964296;11814688;20237496;18462827;21832049 474344 B4DH95;Q6P9H5 AACC02000108;ABBA01035179;ABBA01035180;AC069304;AJ580952;AK026343;AK026396;AK074044;AK294989;AK300445;AK308110;AK314667;AL541003;AMYH01018140;BC060760;BC069461;BC074744;CH471173;CR749355;DA398401;DA582331;DC384795;NM_001244071;NM_001244072;NM_024711 AAH60760;AAH74744;BAB15455;BAB84870;BAG37224;BAG58056;BAG62167;CAE45757;CAH18208;EAL24483;EAW54100;EAW54101;EAW54102;NP_001231000;NP_001231001;NP_078987;Q6P9H5 Hs.647105 1679982 RH94149 DKFZp686A01175;FLJ22690;IAN-2;IAN-6;IAN2;IAN6;hIAN2;hIAN6 GTPase IMAP family member 6;IAN-2;IAN-6;OTTHUMP00000214148;OTTHUMP00000214149;hIAN6;human immune associated nucleotide 2;immune associated nucleotide 2;immune associated nucleotide 6;immunity-associated nucleotide 2 protein;immunity-associated nucleotide 6 protein APPROVED protein-coding ENSG00000133561 21918 13576 REVIEWED 1351937 GIMAP4 GTPase, IMAP family member 4 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144821534 144828117 + 149895391 149901974 + 150264458 150271041 + 1303371;1580863;6480464 15474311 18701445;16509771;15489334;14702039;12690205;12477932;11964296;11814688;10737800;9828130;17207965;20237496;21832049;18029348;22505724 55303 C9IZQ3;G5E9W9;Q9NUV9 AACC02000108;ABBA01035184;ABBA01035185;AC069304;AF117333;AJ227872;AK001972;AK301441;AK301606;AMYH01018140;AW836736;BC020657;BC020776;BX476689;CH471173;CQ834256;NM_018326 AAH20657;AAO15308;ADQ32175;BAA92010;BAG62967;BAG63092;CAH05343;EAL24482;EAW54103;EAW54104;NP_060796;Q9NUV9 Hs.647101;Hs.648582 1677750;5091404 RH45110;RH93861 FLJ11110;HIMAP4;IAN-1;IAN1;IMAP4;MSTP062;hIAN1 GTPase IMAP family member 4;IAN-1;OTTHUMP00000212208;OTTHUMP00000212209;OTTHUMP00000212212;human immune associated nucleotide 1;immunity associated protein 4;immunity-associated nucleotide 1 protein;immunity-associated protein 4 APPROVED protein-coding ENSG00000133574 21872 16281 608087 REVIEWED 1349853 GIMAP5 GTPase, IMAP family member 5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010] 7 7 q36.1 150065384 150071669 + 150434436 150440737 + 619544;6480464 12097339 17641683;17369194;17220214;15489334;15474311;14724691;14702039;12925764;12690205;12477932;11964296;11814688;11238997;20817506;19762377;20190135;20237496;21832049;23098229;22505724 55340 Q96F15 AACC02000108;ABBA01035176;AC006479;AK002158;AK055568;AK297881;AL080068;AL557446;AMYH01018140;AV762634;BC011732;BC033688;CA431916;CH471173;CR457280;NM_018384 AAH11732;ADZ16061;BAA92115;BAB70958;BAG60204;CAG33561;EAL24486;EAW54092;EAW54093;EAW54094;NP_060854;Q96F15 Hs.647079;Hs.698139 1677198;1769122;1796038 D7S2911;IAN4L1_998;RH98738 FLJ11296;HIMAP3;IAN-5;IAN4;IAN4L1;IAN5;IMAP3;IROD;hIAN5 GTPase IMAP family member 5;IAN-5;OTTHUMP00000212269;immune associated nucleotide 4 like 1;immunity associated protein 3;immunity-associated nucleotide 4-like 1 protein;immunity-associated nucleotide 5 protein;immunity-associated protein 3;inhibitor of radiation- and OA-induced apoptosis, Irod/Ian5 APPROVED protein-coding ENSG00000196329 18005 16280 608086 REVIEWED 1343694 GIMAP7 GTPase, IMAP family member 7 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144769018 144775251 + 149842878 149849094 + 150211945 150218161 + 1303371;1580863;6480464 15474311 15489334;12690205;12477932;11964296;11814688;20237496;22505724 168537 Q8NHV1 AA854865;AACC02000108;ABBA01035185;AC069304;AC092025;AMYH01018140;BC006010;BC027613;BX440511;CH471173;NM_153236 AAH27613;ABM81865;ABW03335;EAL24481;EAW54105;EAW54106;NP_694968;Q8NHV1 Hs.647074 IAN7;MGC27027;hIAN7 GTPase IMAP family member 7;IAN-7;OTTHUMP00000212309;immune associated nucleotide;immunity-associated nucleotide 7 protein APPROVED protein-coding ENSG00000179144 22404 17039 REVIEWED 1344762 GIMAP8 GTPase, IMAP family member 8 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 144705070 144733588 + 149778895 149807416 + 150147962 150176483 + 1303371;1580863;6480464 15474311 16103028;14702039;12690205;12477932;11964296;11814688;20237496;20379614;21832049;18029348 155038 Q8ND71 AACC02000108;ABBA01035185;AC073111;AJ633686;AK057969;AK098320;AK314426;AL834361;AMYH01018140;AW236696;BC107037;BM906208;CH471173;NM_175571 AAI07038;CAD39025;CAG17881;EAL24479;EAW54107;EAW54108;NP_783161;Q8ND71 Hs.647121 1857220 SHGC-37691 DKFZp667I133;IAN-9;IAN6;IANT;MGC129545;hIAN6 GTPase IMAP family member 8;IAN-9;OTTHUMP00000212804;human immune associated nucleotide 6;immune associated nucleotide;immune-associated nucleotide-binding protein 9;protein IanT APPROVED protein-coding ENSG00000171115 21792 13577 REVIEWED 1603218 GIN1 gypsy retrotransposon integrase 1 5 5 5 q21.1 98369538 98403680 - 102449603 102483741 - 102421704 102455842 - 6480464 16344560;16189514;12477932;11470852;8125298;20379614;21906983 54826 Q9NXP7 ABBA01069149;AC008447;AK000132;AK225572;AK295796;AMYH01015516;BC015325;BC151135;BC157835;CH471086;CR627424;DB101499;NM_017676 AAH15325;AAI51136;AAI57836;ADZ15850;BAA90963;BAG58616;CAH10511;EAW49080;EAW49081;NP_060146;Q9NXP7 Hs.24088 2142647;2177235 SGC30489;STS-H23482 FLJ20125;GIN-1;TGIN1;ZH2C2 OTTHUMP00000222701;Ty3/Gypsy integrase 1;gypsy integrase 1;gypsy retrotransposon integrase-like protein 1;zinc finger H2C2 domain-containing protein;zinc finger, H2C2 domain containing protein-coding ENSG00000145723 25959 07878 VALIDATED 1320268 GINM1 glycoprotein integral membrane 1 6 6 6 q25.1 150622574 150647109 + 149929217 149953760 + 149887528 149912067 + 6480464 15489334;12975309;12477932;14574404;21139048;21890473;21906983 116254 Q5TFA5;Q9NU53 ABBA01025678;AK289402;AK295690;AK308844;AK308994;AK311061;AK315729;AL078581;AMYH01016736;AMYH01016737;AY358952;BC014320;CH471051;NM_138785 AAH14320;AAQ89311;BAF82091;BAG38084;BAH12157;EAW47796;EAW47797;EAW47798;NP_620140;Q9NU53 Hs.438872 2151495;5022200;5106643 A008Y20;L18426;RH46830 C6orf72;dJ12G14.2 OTTHUMP00000017395;glycoprotein integral membrane protein 1;hypothetical protein LOC116254;uncharacterized protein C6orf72 APPROVED protein-coding 21074 12896 PROVISIONAL 1605108 GINS1 GINS complex subunit 1 (Psf1 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008] 20 20 20 p11.21 25462070 25502910 + 25336323 25377191 + 25388323 25429191 + 6480464 10942595;17417653;17127213;16287864;15489334;12477932;11780052;8724849;20103637;20825491;23390603;22939629;22001757;21139048;21890473;21906983;21705323;21713706;21963094;22505724 9837 E7EQ95;Q14691 ABBA01048718;ABBA01048719;ABBA01048720;AK294593;AL031672;AL353812;AMYH01011789;BC012542;CH471133;D80008;NM_021067 AAH12542;BAA11503;BAG57781;EAX10087;NP_066545;Q14691 Hs.658464 1659810;1681346;1682746;5022200 L18426;RH25400;RH38952;SHGC-52794 KIAA0186;PSF1;RP4-691N24.2 DNA replication complex GINS protein PSF1;OTTHUMP00000030496;partner of sld five-1 APPROVED protein-coding ENSG00000101003 28980 11067 610608 VALIDATED 1604313 GINS3 GINS complex subunit 3 (Psf3 homolog) This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 q21 56983924 56997549 + 58426298 58440048 + 6480464 19305408;17652513;17557111;17545466;17417653;17170760;17127213;16990792;16344560;15342556;14702039;12730134;12477932;19652097;20059967;22863883;21963094;23127337;22939629;21705323;21139048;21890473 64785 Q9BRX5 ABBA01025303;AC009118;AK023974;AK127454;AK315622;AL137379;AMYH01007710;AMYH01007711;BC005879;BC014437;BP374281;CH471092;CR457283;DA550725;NM_001126129;NM_001126130;NM_022770 AAH05879;AAH14437;ADZ16084;BAB14747;BAG37990;CAG33564;EAW82973;EAW82974;EAW82975;EAW82976;NP_001119601;NP_001119602;NP_073607;Q9BRX5 Hs.47125;Hs.605546 1666819;1688680;1857891;5016781 RH48758;RH65173;SHGC-60594;SHGC-67307 FLJ13912;PSF3 DNA replication complex GINS protein PSF3;OTTHUMP00000164722 APPROVED protein-coding ENSG00000181938 25851 07842 610610 REVIEWED 1602113 GINS2 GINS complex subunit 2 (Psf2 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008] 16 16 16 q24.1 70014391 70025701 - 84268781 84280081 - 85711280 85722588 - 6480464 17525332;22474384;21705323;16189514;15489334;14702039;12730134;12477932;11042152;10810093;8125298;17207965;21082043;21109493;22863883;22939629;17623298;21139048;21890473;21906983;22505724 51659 M0QXS3;M0R043;Q9Y248 ABBA01034276;AC123908;AF125098;AF151880;AF201939;AK001275;AK091519;AK223123;AMYH01007887;BC003186;BC010164;BC022839;BC062444;BE514978;CH471114;CR457186;HB868338;HB885265;HB889301;HB900781;HC925747;HC942674;HC946710;HC958190;NM_016095 AAD34117;AAD39915;AAF86875;AAH03186;AAH10164;AAH62444;ADQ31670;BAA91595;BAD96843;CAG33467;CBF58147;CBF66838;CBF68783;CBF79669;CBU83582;CBU91711;CBU93657;CBU99138;EAW95443;EAW95444;NP_057179;Q9Y248 Hs.433180 1712292;1848478;2109719 G54055;Pfs2_9748;STS-W81647 HSPC037;PSF2;Pfs2 DNA replication complex GINS protein PSF2;OTTHUMP00000175001 APPROVED protein-coding 24575 15197 610609 VALIDATED 1601940 GINS4 GINS complex subunit 4 (Sld5 homolog) The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008] 8 8 8 p11.21 40335805 40351649 + 41505903 41519068 + 41386725 41402565 + 6480464 17417653;16189514;14702039;12477932;22863883;22939629;21139048;21890473;21705323;22952844 84296 E5RFF9;E5RH56;Q9BRT9 ABBA01021131;ABBA01021132;AC009630;AK095334;AK299207;AK313373;AMYH01018671;BC005995;BC027454;CH471080;DC376966;NM_032336 AAH05995;AAH27454;BAG36172;BAG53029;BAG61247;EAW63256;EAW63257;NP_115712;Q9BRT9 Hs.656996 1697098;5015861;5022200;5022578;5022651;5037552;5117897;7185938 D10S16;D11S2921;D1S1423;D8S2279;GDB:631813;L18426;RH102031 MGC14799;SLD5 DNA replication complex GINS protein SLD5;OTTHUMP00000225812;OTTHUMP00000225813;SLD5 homolog APPROVED protein-coding ENSG00000147536 28226 11583 610611 VALIDATED 1353884 GIP gastric inhibitory polypeptide This gene encodes an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. [provided by RefSeq, Jul 2008] 17 17 q21.3-q22 44390917 44400954 - 47035918 47045955 - 1580863;2312547;2312548;2312549;2312588;2312587;2312591;2312529;2312592;2312551;2312550;2312553;2312589;2312590;2312554;6480464;7240710 18063845;12789546;9030821;19375579;19473824;19126188;19056762;18376350;3546047;8059006;3892654;18937625;19174495;6140913 2890159;19351807;18593849;18054552;17624916;17609256;17244606;22391044;16142014;16010522;15955806;15899957;15655707;15533777;15522230;15489334;15383372;15220248;14988249;12627975;12530694;12530693;12477932;12138104;11820780;8795084;7589426;6745415;2739653;22301939;18240029;19229515;19748889;20008019;20061446;20138041;20424473;20468064;20799012;20200305;20673334;12036966;17207965;20800603;20580750;21378990;20978139;21539943;23092914;23064014;22179810;22422137;21815989;22319034;22349073 2695 P09681 ABBA01041184;ABBA01041185;AC091133;AMYH01008459;BC069100;BC069663;BC069686;BC069746;BC096146;BC096147;BC096148;BC096149;CH471109;E02006;M18185;M31679;NM_004123 AAA53192;AAA88043;AAH69100;AAH69663;AAH69686;AAH69746;AAH96146;AAH96147;AAH96148;AAH96149;ADQ32948;EAW94697;NP_004114;P09681 Hs.1454 2145231;5119685 D17S1971;GDB:178574 OTTHUMP00000219839;gastric inhibitory polypeptide;glucose-dependent insulinotropic polypeptide;incretin hormone APPROVED protein-coding ENSG00000159224 4270 15925 137240;192605 REVIEWED 732777 GIPR gastric inhibitory polypeptide receptor This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011] 19 19 q13.3 50863342 50877557 + 46171502 46185717 + 737714;737713;1580863;2312618;2312617;2312454;2312603;2312548;2312605;2312615;2312616;2306734;68929;2312612;6480464 12068290;10611300;17624916;15582721;19386626;17505054;12789546;1557958;19254363;17395281;19211686;11334402;17971513 10698200;7589426;7556958;19195718;18971217;17121608;16087722;15666829;15655707;15489334;15111503;15057824;12721154;12627975;12530694;12530665;12477932;10698169;9709947;8795084;8575774;8243312;7490109;18240029;20061446;20081857;20185807;20424473;20516203;20799012;20935630;12036966;18577758;21554434;21789219;22412906;22589738;22112810;22027838;22237064;22399504;22344219;22344221;22889411;22956255 2696 B7WP14;K7EJZ3;K7EPD9;P48546 ABBA01040941;ABBA01040942;AC006132;AC007191;AMYH01009855;BC093723;BC095494;BC101673;BC143300;BC143302;CH471126;D49559;NM_000164;S79852;U39231 AAA84418;AAB35419;AAC97984;AAD22674;AAH93723;AAH95494;AAI01674;AAI43301;BAA08503;EAW57371;EAW57372;NP_000155;P48546 Hs.658534 1672091;1847731;1849808;2145729 G07764;RH18050;RH79151;SHGC-35658 MGC126722;PGQTL2 GIP-R;gastric inhibitory peptide receptor;gastric inhibitory polypeptide receptor;glucose-dependent insulinotropic polypeptide receptor APPROVED protein-coding ENSG00000010310 4271 00670 137241 VALIDATED 1603289 GJA10 gap junction protein, alpha 10, 62kDa Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 6 6 6 q15-q16 91024729 91026360 + 90660909 90662540 + 90604188 90605819 + 6480464 12881038;19773279 84694 Q969M2 ABBA01040545;AF296766;AJ414565;AL353692;AMYH01016505;CH471051;NM_032602 AAI40394;AAI46475;AAK51676;CAC93847;EAW48537;NP_115991;Q969M2 Hs.334499 2219782;5493053 CX62_4660;UniSTS:484070 CX62;RP11-63K6.6 OTTHUMP00000016858;connexin 62;connexin-62;gap junction alpha-10 protein APPROVED protein-coding ENSG00000135355 16995 13104 611924 VALIDATED 1352663 GJA1P1 gap junction protein, alpha 1, 43kDa pseudogene 1 5 5 5 q21.3 104324987 104328061 - 108413085 108416356 - 108385283 108388357 - 11741837;1646158 2698 ABBA01069094;AC010228;AMYH01015540;M65189;NG_003029;NG_011445 1686352;1854144;2113816 GJA1;RH27497;WI-6988 gap junction protein, alpha 1, 43kda (connexin 43) pseudogene 1 pseudo 4275 INFERRED 1603220 GIPC2 GIPC PDZ domain containing family, member 2 1 1 1 p31.1 76750654 76842166 + 78284177 78375700 + 78511589 78603112 + 6480464 18978678;16169070;15489334;14702039;12477932;12011974;11836570;8125298;17207965;20881960 54810 Q8TF65 AB073737;ABBA01074392;ABBA01074393;AC093118;AC103591;AK000082;AK225941;AK307422;AMYH01000723;BC036075;BI561167;CH471059;NM_017655 AAH36075;ADQ32324;BAA90933;BAB84711;EAX06353;NP_060125;Q8TF65 Hs.659356 1704746;1850551;2109347 GIPC2_9824;SHGC-75055;SHGC-79654 FLJ20075;SEMCAP-2;SEMCAP2 OTTHUMP00000038608;PDZ domain protein GIPC2;PDZ domain-containing protein GIPC2;semaF cytoplasmic domain associated protein 2;semaphorin cytoplasmic domain associated protein 2 protein-coding 18177 17040 VALIDATED 1351768 GJA2 gap junction protein, alpha 2, 38kDa (connexin 38) 2699 4276 733913 GIPC1 GIPC PDZ domain containing family, member 1 GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009] 19 19 p13.1 14449571 14467944 - 14588571 14606961 - 68252;1580863;6480464;6484113 9770488 14499480;15459234;12857860;19016655;18775991;18721486;18721484;18314626;16962991;16240642;16225848;15767424;15489334;15356268;15304335;15231747;14702039;14507927;12893809;12724327;12477932;12011974;11956658;11912251;11852236;11798178;11546783;11479315;11445579;11441007;11251075;10965131;10911369;10827173;10414980;10318831;10198040;9482110;8986788;8895530;12508107;17353931;15819698;19913121;20628086;21432940;20634288;14617818;15978582;16316992;16908842;19855435;20091192;16341674;21247498;21047775;21291857;21209904;21963094;23000965;23145131;22939629;23128896;21139048;21890473;21900206;21906983;22082268;22053931;22505724;22593212 10755 A8K2I7;K7EIT0;K7EJ33;K7ELJ2;K7EM11;K7ESN1;O14908 ABBA01029665;ABBA01029666;AC008569;AC012318;AF028824;AF089816;AI589363;AK022585;AK093820;AK290252;AK290948;AMYH01009533;BC000410;BC004226;BC012810;BC016169;BI489862;BM764000;BX439219;CB997520;CH471106;CR986168;NM_005716;NM_202468;NM_202469;NM_202470;NM_202494;U46448 AAB84249;AAC67548;AAH00410;AAH04226;AAH12810;AAH16169;ABM85465;BAF82941;BAF83637;EAW84423;EAW84424;EAW84425;EAW84426;EAW84427;EAW84428;EAW84429;EAW84430;EAW84431;NP_005707;NP_974197;NP_974198;NP_974199;NP_974223;O14908 Hs.655012;Hs.741240 1774583;2109755;2117995 G29335;RGS19IP1_9175;STS-W73036 C19orf3;GIPC;GLUT1CBP;Hs.6454;IIP-1;MGC15889;MGC3774;NIP;RGS19IP1;SEMCAP;SYNECTIIN;SYNECTIN;TIP-2 GAIP C-terminus-interacting protein;GLUT1 C-terminal binding protein;IGF-1 receptor interacting protein 1;PDZ domain-containing protein GIPC1;RGS-GAIP-interacting protein;RGS19-interacting protein 1;regulator of G-protein signalling 19 interacting protein 1;regulator of g-protein signaling 19 interacting protein 1;tax interaction protein 2 APPROVED protein-coding ENSG00000123159 1226 05462 605072 VALIDATED 1606469 GIPC3 GIPC PDZ domain containing family, member 3 The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011] 19 19 19 p13.3 3522390 3530377 + 3536569 3541434 + 3585569 3593539 + 6480464;7240710 18950845;17525332;15489334;15057824;14702039;12477932;12011974;11836571;17690910;21326233;18066515;9286457;21660509;21139048 126326 Q8TF64 AB073738;ABBA01002834;ABBA01002835;AC005175;AC116968;AK098244;AMYH01009314;BC117312;BC117314;BX648927;CH471139;NG_031943;NM_133261 AAC24304;AAI17313;AAI17315;BAB84712;EAW69304;NP_573568;Q8TF64 Hs.266873 C19orf64;DFNB15;DFNB72;DFNB95;DKFZp686J1198;FLJ40925 OTTHUMP00000235917;PDZ domain protein GIPC3;PDZ domain-containing protein GIPC3 APPROVED protein-coding ENSG00000179855 18183 16386 601869;608792 REVIEWED 2291775 GJA6P gap junction protein, alpha 6, pseudogene X X X p22 22673256 22674358 + 18463079 18464181 + 18553158 18554260 + 6480464 15611570 100126825 ABBA01071655;AMYH01022121;NG_007152;NG_008475;Z92542 pseudo 32542 INFERRED 732563 GJA8 gap junction protein, alpha 8, 50kDa This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] 1 1 q21.1 145841560 145848017 + 147374946 147381396 + 1598963;704409;1580863;6480464;7240710 9497259;11125071 17546509;7796604;18587493;18483562;18334966;18334946;18247306;18006672;17724170;17601931;17412882;16740131;16604058;16397066;15696487;12808044;11944087;11023900;9664032;9479004;8549164;1491428;396131;20582632;12107413;19684000;19756179;20019893;8889548;21228318;20806042;20597646;21174522;21378309;21386927;21423869;21921990;21686328;21965293 2703 P48165 ABBA01004402;AC239801;AF217524;AI364417;AL445591;AMYH01001373;BQ184886;CD674975;CH471223;DB476698;NG_016242;NM_005267;U34802 AAA77062;AAF32309;AAI40364;AAI46508;CAH72387;EAW50926;NP_005258;P48165 Hs.632441 1793170;2190805 GJA8;PMC197251P4 CAE;CAE1;CTRCT1;CX50;CZP1;MP70 OTTHUMP00000025757;cell surface glycoprotein;connexin 50;connexin-50;gap junction alpha-8 protein;gap junction membrane channel protein alpha 8;gap junction membrane channel protein alpha-8;lens fiber protein MP70;lens intrinsic membrane protein MP70 APPROVED protein-coding ENSG00000121634 4281 02939 116200;600897 REVIEWED 1345420 GIT2 G protein-coupled receptor kinase interacting ArfGAP 2 This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008] 12 12 q24.1 108851992 108918483 - 110367607 110434194 - 68782;1580863;6480464;6907045 9826657 17353931;10896954;10942595;17567985;17081983;16628223;16598076;16501306;15592455;15489334;15324660;15212761;15144186;14702039;12477932;12473661;12168954;11251077;11157752;10788515;10428811;10330411;8590280;8125298;20694148;22939629;20467438;21988832;23319000 9815 F8VNZ4;F8VPX7;F8VRF8;F8VXI9;F8VZR7;F8W1F8;F8W7V0;F8W822;F8WAK2;Q14161;Q6FI58;R4GNG3 AB451294;AB451428;ABBA01005081;ABBA01005082;ABBA01005083;ABBA01005084;AC084876;AF124491;AK057814;AK090652;AK091325;AK125441;AK222736;AK303198;AK304240;AK308304;AMYH01004738;BC001379;BC014223;BC039880;BM557270;BP871813;BT007312;CH471054;CR533568;CR749340;D63482;NG_029885;NM_001135213;NM_001135214;NM_014776;NM_057169;NM_057170;NM_139201 AAD28047;AAH01379;AAH14223;AAP35976;BAA09769;BAD96456;BAG64289;BAG65109;BAG70108;BAG70242;CAG38599;CAH18193;EAW97885;EAW97886;EAW97887;EAW97888;EAW97889;EAW97890;NP_001128685;NP_001128686;NP_055591;NP_476510;NP_476511;NP_631940;Q14161 Hs.434996 1684315;1701564;1720635;1732325;1760853;1792990;1855053;2149854;2158622;2176469;5022200;5037552 D12S1178E;D12S161;D8S2279;G17616;G59127;L18426;PMC179881P3;RH104415;RH11171;RH25369;RH78517;SHGC-144522 CAT-2;CAT2;DKFZp686G01261;KIAA0148;MGC760 ARF GAP GIT2;ARF GTPase-activating protein GIT2;G protein-coupled receptor kinase interactor 2;G protein-coupled receptor kinase-interactor 2;GRK-interacting protein 2;OTTHUMP00000240739;OTTHUMP00000240740;OTTHUMP00000240741;OTTHUMP00000240742;OTTHUMP00000240743;OTTHUMP00000240749;OTTHUMP00000240750;cool-associated, tyrosine phosphorylated protein 2;cool-interacting tyrosine-phosphorylated protein 2 APPROVED protein-coding ENSG00000139436 4273 09779 608564 REVIEWED 736925 GJA1 gap junction protein, alpha 1, 43kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. [provided by RefSeq, Jul 2008] 6 6 q22.31 121798444 121812572 + 121756745 121770873 + 1582666;1582667;1582668;1580863;1580398;704404;6480464;6484113;6907045;7207393;7207850;7207411;7207474;7207259;1299355;7207263;7240710;7207854;7207423;6480433;7207261;7207267;7207269;7207810;7207262;7207415;7207851;7207264 16010294;12619876;11470490;15381756;21573906;11527649;21414209;17855776;23165424;14622215;22812228;10873295;19077877;21718970;22969867;22665389;22455314;16448880;22841862;20609064;11422751;22808518 11031247;18662195;1696265;12761501;7715640;15709751;12149451;1850831;11124251;12506110;12907686;19490996;19396169;19297523;19174466;19084810;19056535;19027966;19001515;18988928;18951659;18946008;18839320;18823947;18687515;18675253;18660473;18647409;18636092;18600256;18464913;18445604;18435417;18412120;18405916;18297686;18269311;18267319;18193170;18162583;18162455;18161618;18089569;18085635;18079109;18068673;18056766;18047584;17922338;17901047;17898133;17895291;17885214;17878326;17760848;17687502;17624368;17572641;17551925;17541973;17486593;17420259;17401374;17275998;17259707;17189315;17183550;17143533;17072341;11273731;11035005;10871288;10792506;10764404;10679481;10581143;10331943;9707407;9535909;9535905;9443444;9430691;9278444;9155619;8873667;8798588;8631994;8389684;8125298;8028021;1646158;16886200;16823880;16820904;16820096;16816024;16741927;16684925;16677845;16675599;16674815;16647893;16638984;16580773;16480955;16442184;16424398;16407179;16378922;16361362;16319124;16958087;16891658;16219735;16112082;16103109;15987459;15979566;15978203;15948121;15944608;15870276;15817491;15704645;15576650;15551259;15534005;15489334;15334670;15181016;15140236;15108203;14974090;14766937;14729836;14713573;14702389;14681024;14667880;14639017;14519646;13130072;12881039;12861055;12840075;12804600;12767974;12730291;12717835;12644583;12637502;12619863;12489165;12484567;12477932;12457340;12452056;12417300;12397213;12270943;12205082;12203365;12064631;12064622;12064615;12042301;12019157;12003820;11980479;11815667;11746825;11741942;11741837;11739633;11557558;11514593;21385904;21205823;22012769;19908168;19913121;20593197;20628086;20634891;20639392;20668687;20346202;20651379;21328609;22657348;22775996;21383325;20233983;20413811;16944923;17708781;18396685;18425059;19321666;19423654;19460861;19544087;19556520;19615768;19679555;19706598;19710532;19716642;19726320;19808103;19808665;19820388;19847613;19854014;19860828;19883623;19910046;19935872;20038810;20086016;20117462;20130915;20137634;20167932;20347265;20406988;20606116;19321193;20375327;20512920;20512937;20684953;20881238;20530971;20940304;19604543;20878577;19808888;19864031;20373058;21378309;20803237;20876208;19835873;21554242;21718795;21670345;21411628;21665377;19297036;20934339;15338868;23095853;22405962;22736223;21424225;19563063;21532342;19907029;21642545;22729648;22785209;21606502;21726529;22259903;22399755;21858092;21872657;22080401;21669459;21176558;21538160;21866551;21727092;21442291;21716323;21139048;21890473;22033928;22918484;23042455;22422398;22558917;22590817;22615994;23568744;21763271;21819962;21839722;21856279;22155212;23000965;22049024;22112812;22141269;22230328;22179534;22131169;22180603;22430144;22446325;19864490;22389404;22238282;22951570;23106098;22417726;23257890;23544880;23151788;23386650;23183192;23679094;16790700;22809623;23255671 2697 B4DN50;P17302 ABBA01025997;AF151980;AK223289;AK294670;AK295460;AK297761;AK297764;AK309377;AK309490;AK312324;AL139098;AMYH01016632;BC026329;CH471051;CR541660;M65188;NG_008308;NM_000165;U64573;X52947 AAA52131;AAD37802;AAH26329;ABM84575;ABM86537;BAD97009;BAG35246;BAG57837;BAG58393;BAG60109;BAG60112;CAA37122;CAG46461;EAW48178;NP_000156;P17302 Hs.74471 1686352;1792478;1792944;1854144;2113816 GJA1;PMC151788P1;PMC170950P8;RH27497;WI-6988 AVSD3;CX43;DFNB38;GJAL;HLHS1;HSS;ODDD OTTHUMP00000017111;connexin 43;connexin-43;gap junction 43 kDa heart protein;gap junction alpha-1 protein;gap junction membrane channel protein alpha 1;gap junction protein, alpha-like APPROVED protein-coding ENSG00000152661 4274 00414 121014;164200;186100;234100;241550;257850;600309 REVIEWED 732720 GIT1 G protein-coupled receptor kinase interacting ArfGAP 1 17 17 p11.2 24924613 24940736 - 27900487 27916610 - 68782;1580863;6480464;6484113;6907045 9826657 15383276;17353931;18029348;19494130;19303398;19023093;18211801;17562871;17467235;17429073;17081983;16825424;16598076;15951569;15923189;15592455;15489334;15302935;15016733;14702039;14523024;12695502;12629171;12522103;12477932;12473661;12153727;11896197;11381105;10938112;10896954;8889548;10428811;16169070;12923177;15793570;18523162;19322201;20677014;15182672;15324660;16628223;19041750;19923322;19947948;18292392;21499268;20713492;22863883;22893698;21900206;12938929;21139048;20881960;22897819;22807447 28964 E7EVC2;J3QL89;J3QLH1;J3QQI0;J3QRU8;K7EIX6;K7EN79;Q59FC3;Q9Y2X7 AB209537;ABBA01015015;AC104564;AF124490;AK000863;AK024826;AK294785;AK297443;AK299615;AK299932;AMYH01008290;AMYH01008291;AMYH01008292;BC001369;BC005031;BC006227;BC018998;BC032098;BC048196;BC067358;BM984210;BQ424386;BX537553;BX537554;BX648097;CF994106;CH471159;DR001908;NM_001085454;NM_014030 AAD28046;AAH05031;AAH06227;AAH32098;AAH48196;BAD92774;BAG57910;BAG59869;BAG61543;BAG61765;CAD97779;CAD97780;EAW51196;EAW51197;NP_001078923;NP_054749;Q9Y2X7 Hs.514051 1676448;1686186;2109349;2123639;5122612 G17968;GIT1_9564;RH12426;RH35980;RH39387 ARF GAP GIT1;ARF GTPase-activating protein GIT1;CAT-1;CAT1;G protein-coupled receptor kinase interactor 1;G protein-coupled receptor kinase-interactor 1;GRK-interacting protein 1;OTTHUMP00000163605;OTTHUMP00000163606;cool-associated and tyrosine-phosphorylated protein 1 protein-coding ENSG00000108262 4272 06577 608434 VALIDATED 731518 GJA4 gap junction protein, alpha 4, 37kDa This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008] 1 1 p35.1 35031186 35033935 + 35258599 35261348 + 1580400;1580398;1580863;1626626;1626615;1626412;6480464 15982495;15381756;12477941;16677656;15059615 7680674;19420105;19282863;19166859;19056482;19023099;18724972;18664489;18605953;18073482;17975119;17922338;17785925;17719307;17531234;17418016;17318613;17196598;16998253;16710414;16361362;15504903;15489334;15481066;15234427;15194487;15167446;14667880;12477932;11744143;11375929;10728596;10447790;9843209;9617570;9546360;9020357;8761439;8586454;2167375;1964417;1688855;22305353;22528526;1370487;20673868;19407064;19478091;19578796;20081116;20142115;20452482;20530971;17207965;20705954;20959880;21044781;21172909;17192395;22648509;22901223;21208019;21617605;22729648;21810657;23724624 2701 Q5JW71;Q9Y5N7 ABBA01023362;AF132674;AF139100;AF139101;AF139102;AF139103;AF139104;AF139105;AF180815;AF181620;AK291563;AL121988;AMYH01000486;AU103361;BC027889;BC072389;CH471059;M96789;NM_002060 AAA52558;AAD31869;AAD31870;AAD31871;AAD31872;AAD31873;AAD31874;AAD56533;AAD56940;AAF62342;AAH27889;AAH72389;ABM92225;ADQ31997;BAF84252;EAX07440;EAX07441;NP_002051;P35212 Hs.296310 1778095;1793166;1795920;2162599 D1S3523;GJA4_1678;PMC197251P2;SHGC-74583 CX37 OTTHUMP00000004181;OTTHUMP00000004182;connexin 37;connexin-37;gap junction alpha-4 protein;gap junction membrane channel protein alpha 4 APPROVED protein-coding ENSG00000187513 4278 08509 121012 REVIEWED 1349664 GJA3 gap junction protein, alpha 3, 46kDa The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010] 13 13 q12.11 19610394 19633183 - 20712394 20735183 - 1599824;1580863;6480464;7240710 16271086 12808044;12477932;11980479;9413992;10205266;17893674;17615540;17492548;16971895;16885921;16254549;15489334;15467523;15286166;15208569;15057823;14627959;11739633;10746562;9664032;9199569;7342922;1964417;1849321;20431721;20013805;21031021;21386927;22550389;22876138;21552498;21606502;21647269;22843197;21897748;21906983;22312188;21681855;22864933;23302783;23374644;22825713 2700 Q9Y6H8 ABBA01068576;AF075290;AL138688;AMYH01004943;BC121137;BF726530;CH471075;DR003755;NG_016399;NM_021954 AAD42925;AAI21138;EAX08251;NP_068773;Q9Y6H8 Hs.130313 1730568;5493981 D13S141;UniSTS:480636 CTRCT14;CX46;CZP3 OTTHUMP00000205445;connexin 46;connexin-46;gap junction alpha-3 protein;gap junction protein, alpha 3, 46kda (connexin 46) APPROVED protein-coding 4277 00415 121015;601885 REVIEWED 736164 GJA5 gap junction protein, alpha 5, 40kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] 1 1 q21.1 145694956 145712108 - 147228332 147245484 - 1580393;1580398;704404;1580863;6480464;7207474;7207847;7207851;7207391;7207390;7207466;7207848;7207417;7207415;7207423;7207464;7207815;7207850 16790700;15381756;17855776;12644912;11422751;21895483;22945766;18324386;11821709;19686729;20609064;19077877;22199024;15942348;11527649 7966354;19494781;17546509;17189315;16814413;16710414;16646598;16600287;16545451;16508580;16361362;16189514;16188595;15489334;15297374;19490996;17922338;15193866;15117819;15094345;14766937;12594044;12477932;12435353;12397213;12064615;11557558;10873295;10792506;22422398;10728420;10581143;10336839;9617570;9523149;9119381;8561862;7877871;1964417;1310450;19913121;20628086;20650941;20831043;21076161;19808665;20530971;23134779;11866539;21424225;21649591;22405441;22247482;22713807;22021330;21988832;22423256;8889548;20125193;23040431 2702 P36382 ABBA01004402;AC241644;AF074995;AF151979;AL365260;AMYH01001373;BC013313;BM970701;BQ231177;BQ924948;BT019415;BT019416;BX377692;CH471223;DR003194;L34954;NG_009369;NM_005266;NM_181703;U03486 AAA60457;AAA91833;AAD37801;AAH13313;AAV38222;AAV38223;ABM82815;ABM86001;CAI14124;CAI14125;EAW50929;EAW50930;NP_005257;NP_859054;P36382 Hs.447968 2150179;2186954 RH69491;RH71190 ATFB11;CX40;MGC11185 OTTHUMP00000015905;OTTHUMP00000015906;connexin 40;connexin-40;gap junction alpha-5 protein;gap junction membrane channel protein alpha 5 APPROVED protein-coding ENSG00000143140 4279 08699 121013;614049 REVIEWED 1353099 GJA9 gap junction protein, alpha 9, 59kDa Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 1 1 1 p34 37618374 37625924 - 39112326 39119876 - 39339739 39347298 - 1580863;6480464 15489334;12881038;12477932;8889548;11941580;20979653;20379614 81025 C9IYK1;P57773 ABBA01023236;ABBA01023237;ABBA01023238;ABBA01023239;AF179597;AF271261;AK312811;AL139260;AL705384;AMYH01000512;BI463634;BU689816;CH471059;NM_030772 AAG09406;AAK55516;BAG35669;EAX07289;NP_110399;P57773 Hs.591506 1795918;2191221 GJA10_965;MARC_16382-16383:1017773463:1 CX58;CX59;GJA10;MGC50985 OTTHUMP00000000542;connexin 59;connexin-58;connexin-59;gap junction alpha 10;gap junction alpha-10 protein;gap junction alpha-9 protein APPROVED protein-coding ENSG00000131233 19155 13578 611923 VALIDATED 732555 GJB1 gap junction protein, beta 1, 32kDa This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] X X q13.1 70351787 70361777 + 70435062 70445065 + 704404;1580863;6480464;7240710 12477701;12460545;12402337;12362307;12325071;12207932;12205082;12111842;11891346;11835375;11723288;11571214;11562788;11545686;11438991;11437164;11393532;11295246;11180613;11140841;11030070;11024208;10938190;10923043;10894999;10873293;10852921;10737979;10732813;10586284;10581193;10234007;10220155;9888385;9856562;9818870;9633821;9592087;9469569;9401007;9361298;9272161;9187667;9099841;9018031;8990008;8956046;9184217;8266101;2875078;19523148;19448103;19369543;19297523;19265674;19259128;19062535;18949782;18717720;18714809;18676375;18379723;18372303;18353664;18292829;18267319;18058801;17714866;17646144;17620124;17569045;17565422;17546509;17372902;17353473;17200131;17052905;16790356;16373087;16344560;16096811;16079393;15947997;15852376;15782139;15704645;15703409;15685554;15508871;15489334;15470753;15468313;15383278;15334670;15241803;15192806;15006706;14960772;14688024;14663144;14627639;12849984;12775342;12717835;12707076;12542510;12536289;12497641;12477932;8889588;8889549;8842374;8829637;8807343;8757034;8737658;8733054;8698335;8628473;8567789;8390988;8162049;8004109;7833935;7477983;2460334;1674715;1319395;1318266;125246;11980479;7971964;20628624;21607969;18396685;19335535;19550132;19686581;19691535;19883623;20039784;20128140;20133984;20137634;20730878;16712791;11031247;20532933;21104867;20209499;20301548;20931524;21036166;20942588;20857133;21832049;21103663;21082351;21478159;21504505;21687945;21291455;22243284;22771394;22944031;23000965;22012769;19864490;21918739;23209285;23279342;23011429 2705 C9JWU8;P08034 AA041403;ABBA01067689;ABBA01067690;ABBA01067691;AK313474;AL590762;AMYH01022534;BC002805;BC022426;BC039198;BI764356;BT019329;CB155778;CH471132;DA081668;DA262106;L47127;NG_008357;NM_000166;NM_001097642;S83322;S83323;X04325 AAA75086;AAH02805;AAH22426;AAH39198;AAV38136;ABM84441;ABM87493;BAG36259;CAA27856;EAX05305;EAX05306;NP_000157;NP_001091111;P08034 Hs.333303 2118815 RH1704 CMTX;CMTX1;CX32 GAP junction 28 kDa liver protein;OTTHUMP00000023502;OTTHUMP00000023503;OTTHUMP00000023504;OTTHUMP00000023505;connexin 32;connexin-32;gap junction beta-1 protein;gap junction membrane channel protein beta 1 APPROVED protein-coding ENSG00000169562 4283 02367 302800;304040 REVIEWED 1347813 GJB3 gap junction protein, beta 3, 31kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 1 1 p34 35019377 35024554 + 35246790 35251967 + 1300214;1580863;6480464;7240710 9843210 9704026;19254696;19050930;19027966;18988928;18809214;18607988;18338563;17672988;16710414;16549784;16406239;16341674;16297190;16077902;15489334;15276679;14583444;12702148;12630965;12477932;12176042;12165562;12154091;12019212;11309368;10798362;10790215;10757647;10594760;10587579;9843209;9126484;8035838;20593197;20627047;20668687;19523148;19558834;19744334;19755382;19814620;17207965;21055240;22617145;21198793;21916817;21988832;22681493;21906983;21950330;22393412;20301449;20301607;19864490 2707 A1YRJ5;O75712 ABBA01023362;AF052692;AF099730;AJ004856;AK026139;AK312890;AL121988;AL547036;AMYH01000486;BC012918;BC110640;BE673240;BM763034;BM846348;CH471059;NG_008309;NM_001005752;NM_024009 AAC95471;AAD11816;AAH12918;AAI10641;ADQ31582;BAG35737;CAA06165;EAX07442;NP_001005752;NP_076872;O75712 Hs.522561 1795922;2115936 GJB3_971;SHGC-74581 CX31;DFNA2;DFNA2B;EKV;FLJ22486;MGC102938 OTTHUMP00000004183;OTTHUMP00000004184;connexin 31;connexin-31;gap junction beta-3 protein;gap junction protein, beta 3, 31kda (connexin 31) APPROVED protein-coding ENSG00000188910 4285 04505 133200;220290;603324;612644 REVIEWED 1351211 GJB2 gap junction protein, beta 2, 26kDa This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] 13 13 q11-q12 19659605 19665114 - 20761602 20767114 - 1580863;6480464;7240710 21220926;12522692;12522556;12505163;12501766;12497637;12490065;12484567;12477932;12420583;12417772;12393046;12384781;12384501;12372058;12239718;12212857;12189493;12189487;12176179;12176036;12174613;12172394;12172392;12169891;12167443;12121355;12112666;12111646;12110573;12107817;12081719;12072059;12068628;12064630;12064627;12042301;11980479;11977173;11968091;11960582;11935342;11912510;11896458;11872644;11872627;11846738;11788203;11748849;11668644;11603757;11587277;11584050;11556849;11493200;11483639;11445873;11439000;11438992;11432967;11409864;11386851;11354642;11313763;11313751;11298683;11216657;11162081;11134236;11076062;11074495;11073548;10982182;10982180;10830906;10807696;10757647;10713833;10633135;10633133;10607953;10422812;10376574;10369869;10218527;9856479;9819448;9620796;9600457;9592087;9529365;9471561;9422505;9358053;16425640;16407179;16406239;16380907;16379542;16379178;16371502;16344560;16283880;16258398;16243461;16226720;16222667;16158474;16154643;16125251;16088916;16012344;15996220;15967879;15964725;15954104;15932734;15895291;15878206;15870276;15858675;15857852;15857182;15855033;15841999;1324944;9139825;9482292;11719551;19587431;19586875;19558853;19558834;19523148;19491791;19475720;19465004;19371219;19366456;19350503;19340074;19338775;19326169;19254696;19239084;19235794;19190252;19173109;19157576;19125024;19072567;19051073;19050930;19043807;19027966;19027181;19008837;18990456;18988928;18987669;18985073;18983339;18952066;18951659;18950394;18941476;18925674;18843290;18821568;18809214;18787097;18776652;18762573;18758381;18688874;18684989;18668259;18649181;18607988;18585793;18580690;18570691;18570126;18560174;18554165;18519234;18484607;18472371;18454068;18412859;18411733;18368581;18353197;18338563;18324688;18316665;18300439;18294064;18294049;18288393;18274916;18267319;18261328;18245526;18196482;18191019;18167282;18089569;18075246;18024254;17993581;17989577;17949297;17935238;17909436;17903576;17786286;17695503;17672988;17672987;17666888;17661817;17660464;17615163;17614106;17581693;17568408;17567889;17567887;17553572;17551008;17505205;17485979;17455295;17444514;17431919;17428836;17428550;17426645;17406097;17394388;17381453;17369171;17368814;17365058;17357124;17313762;17299707;17290388;17276518;17253936;17227765;17203385;17041943;17041897;17036313;17029193;16877344;16849369;16840571;16777986;16773579;16713631;16650419;16647893;16570074;16532460;15832357;15793769;15770735;15744158;15704645;15700112;15670746;15666300;15656949;15638823;15635064;15633193;15617546;15592461;15577772;15547683;15547423;15547422;15504600;15502644;15489334;15482471;15479191;15464308;15464305;15386363;15365987;15359540;15345117;15337980;15334670;15288505;15274422;15253766;15242756;15236885;15226564;15219044;15148174;15146474;15140236;15138772;15113126;15064611;15057823;15033936;15025729;14985372;14979964;14978038;14759569;14735592;14722929;14719096;14700667;14694360;14681046;14681041;14660916;14643477;14595769;14556203;14534413;14520102;14505035;12925341;12904681;12865758;12851846;12844145;12835856;12833397;12810983;12792423;12786758;12768774;12767933;12752120;12746422;12701741;12684873;12668604;12624506;12560944;12557263;12548749;12530196;12527132;20301607;20301708;22007731;22103400;22154049;22172221;22178340;22208444;22231884;22389666;22567861;9336442;9328482;8978770;8136828;8125298;7881423;7829101;2956987;1850831;21112098;16981465;20533257;20553101;20560254;20563649;20586333;20593197;20601923;20613545;20627047;20628624;20634891;20650534;20668687;20673868;20708129;20739942;20739944;20583176;11031247;20565955;20095872;20815033;20300122;23138568;20584891;21122151;20372813;20376804;20073550;20441744;20442751;20812880;20835527;20842950;20931531;20953187;20954238;20956747;21042228;21055240;20609484;20736419;20937258;19101659;19375528;19384972;19550132;19673989;19686581;19707039;19715470;19715472;19718752;19719946;19723508;19744334;19775242;19793313;19814620;19820388;19844737;19877196;19887791;19902103;19925344;19929407;19929408;19939300;19941053;20022641;20083784;20086291;20086306;20096468;20154630;20201936;20230788;20233142;20234132;20235449;20307501;20359100;20377502;20381175;20452482;20471110;20497192;20236118;20301449;21094651;22534022;22668073;16335400;21056478;21287563;21510145;21162657;21298644;20863150;21114417;22292956;22364789;22484064;22567152;22281373;22498363;19297849;23048025;21281533;21465647;21478159;21484990;21468573;21410767;21484343;21617344;21720291;21298213;21388256;21040787;21622233;22991996;21726435;21811981;21366436;21586435;21809555;21728791;21868108;22070872;22196401;22208942;21738759;22106692;21815880;21651318;21777984;22613756;22695344;23039283;22569142;22590817;22421650;15109709;19864490;22369226;22574200;21776002;21906983;21962949;21996152;21916817;22088281;22000900;22031297;22391066;22412181;22429511;22875492;22037723;23073770;23261389;23171692;22285739;22704424;21933663;21988832;22842402;23374644;23141775;23503914;21488715;23011367;22519989;22592158;22890607;22925408;22747691;22787277;22960825 2706 H9U1J4;Q96AK0 AA947181;AA962716;ABBA01068576;AF281280;AF479776;AK225966;AK313595;AL138688;AMYH01004944;AY255853;AY275646;AY275648;AY275649;AY275650;AY275651;AY275652;AY275653;AY275654;AY280971;AY953438;AY953441;BC017048;BC071703;BI491091;BT006732;CH471075;DA287424;JQ342677;JQ595559;M86849;NG_008358;NM_004004;U43932 AAD14840;AAD21314;AAF91440;AAH17048;AAH71703;AAL87696;AAP34178;AAP35378;AAQ17213;AAQ94940;AAQ94942;AAQ94943;AAQ94944;AAQ94945;AAQ94946;AAQ94947;AAQ94948;AAY25169;AAY25170;ABM82723;ABM85906;AFG29040;AFG29041;BAG36361;EAX08252;EAX08253;NP_003995;P29033 Hs.524894;Hs.714494 1675111;2114094 GJB2;RH78858 CX26;DFNA3;DFNA3A;DFNB1;DFNB1A;HID;KID;NSRD1;PPK OTTHUMP00000018093;OTTHUMP00000018094;connexin 26;connexin-26;gap junction beta-2 protein;gap junction protein beta 2;gap junction protein, beta 2, 26kda (connexin 26) APPROVED protein-coding ENSG00000165474 4284 00413 121011;124500;148210;148350;149200;220290;601544;602540 REVIEWED 732046 GJB5 gap junction protein, beta 5, 31.1kDa This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012] 1 1 1 p35.1 33494445 33497836 + 34993308 34996699 + 35220721 35224112 + 1580863;6480464 9843209;19339270;16710414;15489334;12477932;17207965;22589738;21777377;21900206;21988832;15363549;17302988;18763093;19283857 2709 O95377 AA877961;ABBA01023363;AF052693;AF099731;AK129509;AL121988;AMYH01000486;BC004379;CH471059;NG_016243;NM_005268 AAC95472;AAD18005;AAH04379;ADQ31861;EAX07444;NP_005259;O95377 Hs.198249 1662718;1795924;2168204 AL009997;GJB5_1602;RH77843 CX31.1 OTTHUMP00000004186;connexin 31.1;connexin-31.1;gap junction beta-5 protein;gap junction membrane channel protein beta 5;gap junction protein, beta 5 (connexin 31.1);gap junctional protein cx31.1 APPROVED protein-coding ENSG00000189280 4287 06840 604493 REVIEWED 1352157 GJB4 gap junction protein, beta 4, 30.3kDa This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009] 1 1 p34.3 34999365 35000515 + 35225342 35229325 + 1598970;1598971;1580863;6480464;7240710 12648223;11017804 21950330;19291775;19523148;19578796;16710414;16297190;15489334;14702039;14583444;12477932;11933201;11420600;1512260;148984;20593197;22266302;21198793 127534 Q9NTQ9 ABBA01023363;AK057628;AL121988;AMYH01000486;BC034709;CH471059;CS300805;NG_016243;NM_153212 AAH34709;ABM82250;ABM85434;BAG51944;CAK32469;EAX07443;NP_694944;Q9NTQ9 Hs.351203 1795924;1797580;2168204 GJB4_2581;GJB5_1602;RH77843 CX30.3;EKV;MGC21116 OTTHUMP00000004185;connexin 30.3;connexin-30.3;gap junction beta-4 protein;gap junction protein, beta 4 (connexin 30.3) APPROVED protein-coding ENSG00000189433 4286 05666 133200;605425 REVIEWED 1319005 GJD3 gap junction protein, delta 3, 31.9kDa This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008] 17 17 q21.2 35770430 35774471 - 38516904 38520945 - 1580863;6480464 12154091;19168070;18291099;17142249;16772377;12881038;12176752;12064584 125111 J9PBQ4;Q8N144 ABBA01031831;AC080112;AF514298;AK125254;AMYH01008384;AY093445;CH471152;NM_152219 AAI53090;AAM18801;AAM53649;BAC86102;EAW60660;NP_689343;Q8N144 Hs.444663 2131663 RH44908 CX31.9;Cx30.2;GJA11;GJC1 connexin 31.9;connexin-31.9;gap junction alpha-11 protein;gap junction chi-1 protein;gap junction delta-3 protein;gap junction protein, chi 1, 31.9kda (connexin 31.9) APPROVED protein-coding 19147 08461 607425 VALIDATED 1349249 GJB6 gap junction protein, beta 6, 30kDa Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] 13 13 q12 19694101 19703067 - 20796101 20806534 - 1599828;1580863;6480464;7240710 11017065 10610709;19523148;19465004;19371219;19338775;19318801;19285977;19254696;19173109;19125024;19051073;19027966;18988928;18809214;18758381;18607988;18585793;18580690;18554165;18338563;18294049;17989577;17786286;17695503;17672988;17666888;17615163;17438853;17426645;17368814;17357124;16773579;16406239;16344560;16303743;16222667;16125251;16076412;15964725;15792634;15656949;15638823;15489334;15464308;15464305;15345117;15342556;15150777;15140236;15064611;15025729;14759569;14595769;14571368;12872268;12865758;12788524;12767933;12477932;12419304;12172392;11896458;11874494;11807148;11668644;11245683;10737800;10471490;9606177;9215774;8845850;8621942;7737190;22292956;20553101;20593197;20613545;20650534;20668687;20739942;20442751;20812880;21086793;18029348;19558834;19715470;19719946;19723508;19744334;19814620;19844737;19877196;19887791;20022641;20086291;20233142;20381175;20236118;20536673;20301379;20301449;22534022;23219093;20835527;20858605;21116114;21287563;20563649;21227513;21738759;22106692;21731760;21916817;19864490;22281373;22186156;22389666;20301607;20301708;22103400;22704424;23171692;23503914;22617145 10804 O95452 ABBA01068576;AJ005585;AK075247;AK289592;AK312352;AL355984;AMYH01004944;AY297110;AY789474;AY789475;AY789476;BC038934;BE181310;BE185135;BP227986;CF453597;CH471075;CQ783358;DA165219;DB339720;DB577868;DC295753;DC337465;DN998505;NG_008323;NM_001110219;NM_001110220;NM_001110221;NM_006783 AAH38934;AAP51162;AAV67951;AAV67952;AAV67953;BAF82281;BAG52094;CAA06611;CAF86564;EAX08254;EAX08255;EAX08256;EAX08257;EAX08258;NP_001103689;NP_001103690;NP_001103691;NP_006774;O95452 Hs.511757 1797582 GJB6_2557 CX30;DFNA3;DFNA3B;DFNB1B;ECTD2;ED2;EDH;HED;HED2 OTTHUMP00000018096;OTTHUMP00000176870;OTTHUMP00000176871;OTTHUMP00000176872;connexin 30;connexin-30;ectodermal dysplasia 2, hidrotic (Clouston syndrome);gap junction beta-6 protein;gap junction protein, beta 6 (connexin 30) APPROVED protein-coding ENSG00000121742 4288 05107 129500;220290;604418;612643;612645 REVIEWED 2302326 GJE1 gap junction protein, epsilon 1, 23kDa q24.1 6480464 19657183;14574404;18849090 100126572 A6NN92 AL033522 A6NN92 CX23 connexin-23;gap junction epsilon-1 protein;gap junction protein, epsilon 1, 23kDa protein-coding 33251 1346461 GJB7 gap junction protein, beta 7, 25kDa Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 6 6 6 q15 88411371 88457670 - 88049417 88095715 - 87992697 88038996 - 6480464 15489334;14574404;12881038;12477932;12108537;8889548;17207965 375519 J3KP93;Q6PEY0 ABBA01040492;AJ414563;AK127554;AL096817;AL139274;AL160258;AMYH01016493;BC057813;BM976147;NM_198568 AAH57813;ADQ32510;BAG54522;CAC93845;NP_940970;Q6PEY0 Hs.146727 2177200 D6S1297 CX25;MGC71746;bA136M9.1;connexin25 OTTHUMP00000016827;OTTHUMP00000236032;connexin 25;connexin-25;gap junction beta-7 protein APPROVED protein-coding ENSG00000164411 16690 13579 611921 VALIDATED 6481450 GK-AS1 GK antisense RNA 1 100873902 AC112496 APPROVED miscrna 40255 1353703 GJC3 gap junction protein, gamma 3, 30.2kDa This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010] 7 7 7 q22.1 94255435 94261786 - 99359104 99365179 - 99520892 99527243 - 1580863;6480464 18353664;15293232;12881038;12690205;12477932;12151525;19657183;19876648;20593197;20632892;21480002 349149 Q8NFK1 AACC02000084;ABBA01013242;AC011904;AF503615;AMYH01017726;AY297109;BC038207;BC038208;BC043381;CH236956;CH471091;NG_016852;NM_181538 AAH43381;AAI48671;AAI56595;AAM21145;AAP51161;EAL23863;EAW76624;NP_853516;Q8NFK1 Hs.647524 1684594 RH80147 CX30.2;CX31.3;Cx29;GJE1 OTTHUMP00000210304;connexin 29;connexin-30.2;connexin-31.3;gap junction epsilon-1 protein;gap junction gamma-3 protein APPROVED protein-coding ENSG00000176402 17495 13580 611925 REVIEWED 1603351 GJD4 gap junction protein, delta 4, 40.1kDa Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] 10 10 10 p11.21 35659067 35662598 + 35934344 35937869 + 35894338 35897863 + 6480464 16303743;12881038;12477932;22889411;22729648 219770 Q8IV12;Q96KN9 ABBA01033334;AJ414564;AK074504;AL121749;AMYH01002240;BC035898;CH471072;CQ782432;NM_153368 AAH35898;AAI56175;AAI57015;AAI60130;BAC11028;CAC93846;CAF85719;EAW85910;EAW85911;NP_699199;Q96KN9 Hs.638922;Hs.670506 5022200;5022578;5022651 D11S2921;D1S1423;L18426 CX40.1;FLJ90023;RP11-425A6.2 OTTHUMP00000019455;connexin 40.1;connexin-40.1;connexin40.1;gap junction delta-4 protein APPROVED protein-coding ENSG00000177291 23296 13103 611922 VALIDATED 1348347 GK4P glycerol kinase 4 pseudogene X X X q22.1 101554034 101556222 - 100919983 100922283 - 101033439 101035626 - 7987308 2716 ABBA01045023;AL672207;AMYH01022735;NG_001127;X78714;Z70050 1686162 RH92654 GKP6 glycerol kinase pseudogene 6 pseudo 4295 INFERRED 1346209 GJC2 gap junction protein, gamma 2, 47kDa This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008] 1 1 q42.13 226404176 226414150 + 228337415 228347527 + 6480464;7240710 19056803;18521858;18094336;17344063;17031678;16969684;16710414;15489334;15192806;12843301;12805295;12477932;8889548;21959080;19423250;20120347;20537300;21266381;22283455;22669416;22351697;15174051;23142375;23544880 57165 Q5T442 ABBA01005831;ABBA01005832;AF014643;AL359510;AMYH01001791;AMYH01001792;AY285161;BC035840;BC089439;BU739494;CF132637;CH471098;NG_011838;NM_020435 AAB94511;AAH35840;AAH89439;AAP37488;EAW69860;NP_065168;Q5T442 Hs.100072;Hs.743715 1678323;1729910 D1S174E;RH80270 CX46.6;Cx47;GJA12;HLD2;LMPH1C;MGC105119;PMLDAR;SPG44 OTTHUMP00000037763;connexin 47;connexin-46.6;connexin-47;connexin46.6;gap junction alpha-12 protein;gap junction gamma-2 protein APPROVED protein-coding ENSG00000198835 17494 10582 608803;608804;613206;613480 REVIEWED 733205 GJD2 gap junction protein, delta 2, 36kDa This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012] 15 15 q14 32831971 32833981 - 35044642 35046782 - 1300300;6480464 11516403 19095792;19000992;17828386;17427027;16876983;15489334;15235036;15116387;15083701;14565956;12522556;12477932;10462698;16211561;20979653;20835239;19418635;22752717;22288100;23396134 57369 Q9UKL4 AB037509;ABBA01038522;AC087457;AF153047;AMYH01006540;BC069131;BC069339;BC112110;BC112114;BC143788;CH471125;NM_020660 AAD54234;AAH69339;AAI12111;AAI12115;AAI43789;BAA90429;EAW92315;NP_065711;Q9UKL4 Hs.283816 2218450 CX36_4658 CX36;GJA9;MGC138315;MGC138319 OTTHUMP00000160080;connexin 36;connexin-36;gap junction alpha-9 protein;gap junction delta-2 protein;gap junction membrane channel protein alpha 9 APPROVED protein-coding 19154 09521 607058 REVIEWED 1350984 GJC1 gap junction protein, gamma 1, 45kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] 17 17 q21.31 40231342 40263705 - 42875816 42908179 - 1580398;1580863;6480464 15381756 7966354;17546509;17189315;16463142;16344560;15489334;15146197;14766937;14702039;14667880;12477932;12452056;12064615;12064590;10377174;10336839;9523149;11557048;21424225;19913121;20628086;20530971;20979653;19883623;11031247;21406965;21254920;21674053;21139048;21906983;19864490 10052 K7EM78;K7ENT9;K7EQ14;K7ERH3;P36383;Q5H9P2 ABBA01028345;ABBA01028346;ABBA01028347;AC005180;AK098274;AK124339;AMYH01008429;AMYH01008430;AMYH01008431;BC096213;BC096214;BC096215;BC096216;CH471178;CN299428;CR933719;DA845933;NM_001080383;NM_005497;U03493 AAA60458;AAH96213;AAH96214;AAH96215;AAH96216;BAG54030;CAI46249;EAW51577;NP_001073852;NP_005488;P36383 Hs.712052;Hs.744748 1676290;1797578;1853343;5015619;5015861;5015961;5016352;5016478;5016596;5021396;5022463;5022578;5024039;5024413;5037552;5109281;5118576;5118674;7185938 D10S16;D11S3114;D11S3430;D11S3538;D15S1477;D16S325;D1S1423;D1S1425;D3S1673;D8S2279;G17972;GDB:313783;GDB:434012;GDB:631802;GJA7_969.2;L17877;L30021;RH80700 CX45;DKFZp686P0738;GJA7 connexin 45;connexin-45;gap junction alpha-7 protein;gap junction gamma-1 protein;gap junction protein, alpha 7, 45kDa;gap junction protein, alpha 7, 45kda (connexin 45) APPROVED protein-coding ENSG00000182963 4280 08819 608655 REVIEWED 1347477 GK7P glycerol kinase 7 pseudogene q41 8499912;7987308 2711 NG_001126;X78713 GKP1 glycerol kinase pseudogene 1 pseudo 4290 1605845 GK6P glycerol kinase 6 pseudogene 4 4 q26 120533666 120535668 - 120314018 120316225 - 6480464 7987308;8499912 201989 ABBA01044708;AC110373;AMYH01014484;NG_004742;X78713 GK7P;GKP1 pseudo 23263 INFERRED 1353777 GK2 glycerol kinase 2 4 4 4 q13 77623185 77625050 - 80546531 80548396 - 80327507 80329372 - 1580863;6480464 7987308;12477932;20877624 2712 Q14410 ABBA01063392;AC079345;AK292241;AMYH01014333;BC027598;BC029820;BC048274;BC058888;BI830891;CH471057;HC007006;NM_033214;X78712 AAH29820;AAH48274;AAH58888;ABM82247;ABM85431;BAF84930;CAA55365;CBH19308;EAX05842;NP_149991;Q14410 Hs.98008 1718663;1753697;5122688 D4S3232;RH123019;SHGC-107631 GKP2;GKTA ATP:glycerol 3-phosphotransferase 2;GK 2;OTTHUMP00000160702;glycerokinase 2;glycerol kinase 2;glycerol kinase pseudogene 2;glycerol kinase testis specific 2;glycerol kinase, testis specific 2 protein-coding ENSG00000196475 4291 15966 600148 VALIDATED 1344552 GK3P glycerol kinase 3 pseudogene 4 4 4 q32.1 163534517 163536748 - 166418436 166420272 - 166198944 166201175 - 1580863;6480464 12477932;9847074;7987308 2713 Q14409 ABBA01070291;AC055120;AC107059;AK292282;AMYH01014673;BC066960;NR_026575;X78711 BAF84971 Hs.654557 GKP3;GKTB glycerol kinase pseudogene 3 pseudo ENSG00000229894 4292 600149 VALIDATED 1351874 GKP4 glycerol kinase pseudogene 4 7987308 2714 4293 3378226 GKN3P gastrokine 3, pseudogene 2 2 2 p13.3 69000141 69004470 + 68955254 69013138 + 69149637 69153966 + 15815621;20138039;20379614;23715263 100132413 P0CG01 ABBA01075491;AC097495;AMYH01010419;CH471053;NG_016576 EAW99861;P0CG01 1773804 SHGC-14448 pseudo 37701 INFERRED 1349453 GLAT galactose enzyme activator 1192801;164654 2718 4297 137030 1344759 GK glycerol kinase The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] X X p21.3 30581461 30658646 + 30671476 30749579 + 1580863;1601343;6480464;7240710 9719371 20110216;15845384;8401584;18660489;16549535;15489334;14654354;12636049;12477932;10851254;10737976;10736265;8884278;8651297;8499912;8499898;7987308;2982325;2159212;2081587;8944226;21988832;21890473;21906983 2710 A6NP46;B4DH54;C9JLT1;F8WBI8;F8WC39;F8WDA9;F8WF44;H7BYD2;H7C2A0;H7C5F6;P32189 AA689298;ABBA01072968;ABBA01072969;ABBA01072970;ABBA01072971;ABBA01072972;ABBA01072973;ABBA01072974;ABBA01072975;ABBA01072976;AC005913;AC112496;AC117404;AJ252550;AK294304;AK294938;AK308238;AK313215;AMYH01022192;AMYH01022193;AW300142;BC018009;BC037549;BC042421;BC071595;BG400692;BM906503;BX647604;CD369459;CH471074;HB936825;HB950504;HC994234;HD007914;L13943;NG_008178;NM_000167;NM_001128127;NM_001205019;NM_203391;X68285;X69886 AAA52576;AAH37549;AAH42421;AAH71595;ABM82506;ABM85699;BAG36030;BAG57585;BAG58015;CAA48346;CAA49512;CAB54857;CAB54858;CAB54859;CBG03251;CBG09940;CBV16771;CBV23462;EAW99053;EAW99054;EAW99055;EAW99056;NP_000158;NP_001121599;NP_001191948;NP_976325;P32189 Hs.1466 1648574;1686162;1689310;1694332;1702046;5121048;5124677;5126527 DXS1029;DXS1128;GDB:655772;RH16;RH36397;RH38757;RH92654;RH93765 GK1;GKD ATP:glycerol 3-phosphotransferase;OTTHUMP00000023108;OTTHUMP00000023109;OTTHUMP00000215321;glycerokinase;glycerol kinase APPROVED protein-coding ENSG00000198814 4289 08363 300474;307030 REVIEWED 1606131 GKN2 gastrokine 2 2 2 2 p13.3 69023098 69030721 - 69025868 69033606 - 69172364 69180102 - 6480464 18593995;17982272;16888721;15924415;15774165;12975309;12921637;12477932;18722547;21151392;21870107 200504 E5RHQ8;Q86XP6 ABBA01075491;AC114802;AF494509;AJ966788;AMYH01010419;AY358664;AY943908;BC110809;CH471053;NM_182536 AAI40336;AAI46485;AAO85515;AAQ89027;AAY24521;CAI85014;EAW99860;NP_872342;Q86XP6 Hs.16757 1675778;1770964;2129850 G19139;RH92704;SHGC-33686 BRICD1B;GDDR;PRO813;TFIZ1;VLTI465 BRICHOS domain containing 1B;OTTHUMP00000202135;OTTHUMP00000227716;blottin;down regulated in gastric cancer GDDR;down-regulated in gastric cancer GDDR;gastrokine-2;trefoil factor interactions(z) 1 protein-coding ENSG00000183607 24588 17034 PROVISIONAL 1606415 GK5 glycerol kinase 5 (putative) 3 3 3 q23 140299924 140367918 - 143359059 143427118 - 141876369 141944449 - 6480464 14702039;12477932;21139048;21906983;19322201 256356 F8WBF0;H7C4F2;H7C5R4;Q6ZS86 ABBA01059031;ABBA01059032;ABBA01059033;AC108679;AK090901;AK127641;AK130469;AK310761;AK313792;AMYH01013546;BC032470;BU628781;BX648359;BX648681;CH471052;DR000158;NM_001039547;NR_033289 AAH32470;ABM82533;ABM85726;BAC03542;BAC87068;BAG36529;EAW78974;EAW78975;EAW78976;NP_001034636;Q6ZS86 Hs.135904;Hs.744309 1660501;1851611;5014039;5015959;5016478;5016596;5020948;5022322;5022651;5037552;5037554;5109281 D10S2448;D11S2560;D11S2921;D1S1425;D22S1584;D3S4133;D8S2279;D8S2282;G35510;GDB:434012;GDB:631802;STS-N22251 FLJ33582;FLJ45739;MGC40579 ATP:glycerol 3-phosphotransferase 5;GK 5;OTTHUMP00000214453;glycerokinase 5;putative glycerol kinase 5 protein-coding ENSG00000175066 28635 14612 VALIDATED 1315863 GKAP1 G kinase anchoring protein 1 This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 9 9 9 q21.32 56924338 57002769 - 85544156 85622477 - 86354336 86432752 - 1580863;6480464 16713569;16189514;16015647;12477932;10671526;18654987;21988832 80318 B4DXS0;C9J9D2;Q5VSY0 AB033131;AB033132;ABBA01034004;ABBA01034005;ABBA01034006;ABBA01034007;ABBA01034008;AF319476;AJ420456;AK058198;AK302100;AL354733;AL354920;AL662787;AMYH01021459;AMYH01021460;BC014476;BI459540;CH471089;CS300686;DB454445;NM_001135953;NM_025211 AAG40320;AAH14476;ABM83176;ABM86376;BAB40454;BAB40455;BAB71712;BAG63482;CAK32350;EAW62665;EAW62666;NP_001129425;NP_079487;Q5VSY0 Hs.522255 2115665;2141450 A008B33;RH16341 FKSG21;FLJ25469;GKAP42 G kinase-anchoring protein 1;OTTHUMP00000021549;OTTHUMP00000021550;cGMP-dependent protein kinase anchoring protein 42kDa;cGMP-dependent protein kinase-anchoring protein of 42 kDa;protein kinase anchoring protein GKAP42 APPROVED protein-coding ENSG00000165113 17496 17042 611356 REVIEWED 1345592 GLC1B glaucoma 1, open angle, B (adult-onset) 7240710 8812425 2722 1334924;1336901 D2S2161;D2S2264 4302 137760 1319832 GLB1L galactosidase, beta 1-like 2 2 2 q35 213871201 213879838 - 219809737 219818375 - 220101493 220110131 - 737633;1580863;6480464 12477932 14702039;12975309;21832049 79411 C9J1Y9;C9JE41;F8WCT5;H7BZ46;Q6UWU2 ABBA01023845;AC068946;AK055098;AK074393;AK299404;AK300215;AMYH01011505;AMYH01011506;AY358639;BC003523;BC028370;CH471063;NM_024506 AAQ89002;BAB70855;BAG61387;BAG61983;EAW70711;EAW70712;EAW70713;NP_078782;Q6UWU2 Hs.181173 1655278;1663635;2107155;5024039;5037552 D16S325;D8S2279;GLB1L__6807;SHGC-32531;WI-15771 MGC10771 OTTHUMP00000164173;OTTHUMP00000205949;OTTHUMP00000205950;beta-galactosidase-1-like protein protein-coding ENSG00000163521 28129 11004 PROVISIONAL 1349670 GLC1C glaucoma 1, open angle, C 7240710 9012402 2723 4303 1350911 GLC1D glaucoma 1, open angle, D (adult-onset) 7240710 2724 4304 1347214 GLC1F glaucoma 1, open angle, F (adult-onset) 7240710 2726 4306 603383 1352465 GLC1H glaucoma 1, open angle, H (adult-onset) 7240710 399564 23256 1344649 GLC1I glaucoma 1, open angle, I 7240710 497188 31912 1348594 GLC3B glaucoma 3, primary infantile, B 7240710 8842741 2728 4309 1345194 GLC3C glaucoma 3, primary congenital, C 7240710 399565 30028 1345712 GLC2A glaucoma 2, angle closure 2727 4307 1351595 GKN1 gastrokine 1 The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008] 2 2 p13.3 69055209 69061616 + 69201705 69208112 + 1302499;1580863;6480464 12851218 10835488;18927498;18593995;17092786;15961882;15489334;12975309;12477932;11562744;15924415;20379614;17207965;22798109;21792914;21751384;21898090;22621392;21988832;22842654;23319233;23317277 56287 Q53YU7;Q9NS71 AB039886;ABBA01075491;AC114802;AJ966789;AK098489;AL833013;AMYH01010419;AY139182;AY139184;AY359050;AY456961;BC059778;CH471053;NM_019617 AAH59778;AAN75447;AAN75449;AAQ89409;AAR21211;AAY24066;ADQ32573;BAA92433;CAH56295;CAI85015;EAW99859;NP_062563;Q9NS71 Hs.69319 1660307 RH48735 AMP18;BRICD1;CA11;FOV;MGC70354;foveolin 18 kDa antrum mucosa protein;AMP-18;BRICHOS domain containing 1;OTTHUMP00000159974;gastrokine-1 APPROVED protein-coding ENSG00000169605 23217 16217 606402 REVIEWED 1348388 GLDCP1 glycine dehydrogenase (decarboxylase) pseudogene 1 4 4 4 q12 54965218 54969018 + 57153330 57157295 + 57458631 57462431 + 9847074;7945295;2268343 2732 ABBA01003430;AC108215;AMYH01014195;NG_003012 1650169;1677292 D9S2017;SHGC-67420 GLDCP APPROVED pseudo 4314 INFERRED 1606483 GLB1L2 galactosidase, beta 1-like 2 11 11 11 q25 131374433 131418732 + 133707016 133751428 + 134201768 134246218 + 6480464 16344560;16303743;12975309;12477932;10737800;21906983 89944 H0YCY4;H0YDY6;Q8IW92 ABBA01031117;AF173889;AK074703;AK074750;AK074855;AK074947;AMYH01004147;AP000859;AP003971;AY358497;BC008326;BC040641;BF923895;BX640934;CH471065;DB228573;NM_138342 AAH08326;AAH40641;AAQ13636;AAQ88861;BAC11149;BAC11179;BAC11247;BAC11309;EAW67842;EAW67843;EAW67844;NP_612351;Q8IW92 Hs.436178 1685283;1687920;1738165;1749013;2165590;2180418;5022578;5022651 D11S1110;D11S2098;D11S2921;D11S3798;D11S4579;D1S1423;RH25689;SHGC-110655 MST114;MSTP114 OTTHUMP00000235428;OTTHUMP00000235430;beta-galactosidase-1-like protein 2 protein-coding ENSG00000149328 25129 14265 VALIDATED 1347574 GLB1 galactosidase, beta 1 This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 3 3 p21.33 33013104 33113698 - 33038100 33138694 - 1598983;1598984;1580863;6480464;6907045;7240710 10737981;11511921 15907791;15714521;15489334;15365997;14987258;12644936;12515396;12477932;12393180;10891505;10841810;10839995;10571006;10338095;9501080;9497360;9203065;8922281;8910459;8670798;8500799;8383699;8213816;8199591;8198123;8125298;7693577;7586649;6807121;6791574;3922758;3921454;3102233;3084469;2511208;2111707;3143362;15498789;19091613;18976701;18772331;18524657;18353697;18217416;18088383;17664528;17661814;17522702;17353931;17309651;16941474;16626397;16538002;16344560;16314480;16314420;16263699;1928092;1909871;1909089;1907800;1606711;1487238;1353343;113895;110522;18704747;19472408;19769716;20379614;20826101;20947500;21105107;20175788;22033734;20920281;20000738;22268729;22001501;21978926;22178079;21139048;21890473;21906983;22128166;21963094;21988832;21321400;21900206;22234367;23042114;22763966 2720 C9J4G9;C9J539;C9JF15;C9JWX1;E7EQ29;F8WEN1;F8WF40;P16278 ABBA01024911;ABBA01024912;ABBA01024913;ABBA01024914;AC112211;AK130133;AK222763;AK223091;AK298985;AK300021;AK300753;AK312988;AMYH01013066;AMYH01013067;AU134179;BC007493;BT007147;CH471055;DA077250;DA261513;DB504658;M22590;M27507;M27508;M34423;NG_009005;NM_000404;NM_001079811;NM_001135602;S59584 AAA35599;AAA51819;AAA51822;AAA51823;AAB19814;AAH07493;AAP35811;ABM81615;ABM84797;BAD96483;BAD96811;BAG35825;BAH12915;BAH13196;BAH13341;EAW64442;EAW64443;EAW64444;EAW64445;NP_000395;NP_001073279;NP_001129074;P16278 Hs.443031 1672359;1699444;1741433;1743317;2147975;2154233;2166605;5120616;5120618;5120620 D3S3936;G16542;GDB:181208;GDB:314877;GDB:362721;GDB:362736;GDB:362739;RH103313;RH69516;SHGC-76807 EBP;ELNR1;MPS4B OTTHUMP00000208610;OTTHUMP00000208611;OTTHUMP00000208612;acid beta-galactosidase;beta-galactosidase;elastin receptor 1, 67kDa;lactase APPROVED protein-coding ENSG00000170266 4298 01975 230500;230600;230650;253010;611458 REVIEWED 1344140 GLA galactosidase, alpha This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008] X X q22 100539435 100549657 - 100652779 100663001 - 1601350;1580863;6480464;6907045;7240710 2539398 17804462;17592721;17555407;17263716;16972173;16899426;16754800;16595074;16531566;16511611;16344560;15895718;15776423;15772651;15712228;15489334;15339079;15003450;12938095;12477932;12471562;12370426;12360745;12360742;12033283;11882018;11828341;11775551;11668641;11295840;11076046;10666480;10208848;10090526;9630664;9620884;9110171;9105656;18023222;9100224;8931708;8875188;8863162;8834244;8807334;39940;16372133;6256390;1332979;2160973;3029062;19621417;19404287;19357250;19287194;19037253;18979223;18849176;18724168;18698230;18633574;18560446;18472290;18456533;18205205;8543175;8425221;8395937;8380905;8125298;8069316;7959728;7911050;7759078;7626884;7599642;7596372;7575533;7531540;7504405;7503918;3036505;3014515;2892762;2836863;2542896;2171331;2152885;1846223;1315715;22773828;22841442;19913121;20628086;18029348;19468850;19615732;19940122;19941952;19949670;20031620;20110537;20122163;6313412;20444686;21517827;22187137;22551898;20821055;20505683;20860754;20301469;22305854;22260214;22341397;21333496;21569768;21569769;22863883;21305660;22008442;18979178;21683120;21755431;21139048;21890473;21906983;21987572;21643977;21859400;22558451;21963094;23190516;22563919;22465271;22268729;22768187;22307442 2717 P06280;Q53Y83 ABBA01044978;ABBA01044979;AK222627;AK291095;AK297148;AL035422;AMYH01022725;BC002689;BT006864;CH471115;D00039;DB370480;M13571;M18242;M20317;NG_007119;NM_000169;U78027;X05790;X14448;X16889 AAA51676;AAA52514;AAA52559;AAB64203;AAH02689;AAP35510;ABM81647;ABM84825;BAA34059;BAD96347;BAF83784;BAG59647;CAA29232;CAA32617;EAX02862;EAX02863;NP_000160;P06280 Hs.69089 1702320;1741935;1742981;1743109;1743111;1743805;1744733;1791888;2162987;5491882 GDB:186877;GDB:192499;GDB:226672;GDB:264201;GDB:265312;GDB:373995;GDB:555540;GLA;PMC129774P1;RH18080 GALA OTTHUMP00000023679;agalsidase alfa;alpha-D-galactosidase A;alpha-D-galactoside galactohydrolase 1;alpha-gal A;alpha-galactosidase A;melibiase APPROVED protein-coding ENSG00000102393 4296 02357 300644;301500 REVIEWED 1607059 GLCE glucuronic acid epimerase Heparan sulfate (HS) is a negatively charged cell surface polysaccharide required for the biologic activities of circulating extracellular ligands. GLCE is responsible for epimerization of D-glucuronic acid (GlcA) to L-iduronic acid (IdoA) of HS, which endows the nascent polysaccharide chain with the ability to bind growth factors and cytokines (Ghiselli and Agrawal, 2005 [PubMed 15853773]).[supplied by OMIM, Jun 2008] 15 15 15 q23 46342293 46453794 + 67240027 67351598 + 69452973 69564544 + 6480464;6907045 15853773;17985344;14718527;14702039;12477932;11279150;11274177;10048485;8889549;20379614;19322201;22528493;21488854;22805760;21654676;22830596;21890473;22968430 26035 B3KML4;H0YNP1;O94923 AA393928;AB020643;ABBA01038769;AC026512;AC026992;AK002188;AMYH01006741;AY635582;BC026096;CH471082;N41364;NM_015554;W87397 AAI60046;AAT48654;BAA74859;BAG51026;EAW77837;NP_056369;O94923 Hs.183006 1733670;1736526;1736532;2110423;5021115;5023240;5113519 A002V46;D15S640E;D15S730E;D15S733E;D15S899;GLCE__6808;RH91714 HSEPI;KIAA0836 D-glucuronyl C5-epimerase;UDP-glucuronic acid epimerase;glucuronyl C5-epimerase;heparan sulfate C5-epimerase;heparan sulfate epimerase;heparin/heparan sulfate-glucuronic acid C5-epimerase;heparin/heparan sulfate:glucuronic acid C5-epimerase;heparosan-N-sulfate-glucuronate 5-epimerase APPROVED protein-coding ENSG00000138604 17855 07020 612134 VALIDATED 1603928 GLB1L3 galactosidase, beta 1-like 3 11 11 11 q25 131319141 131362133 + 133652266 133694667 + 134146275 134189458 + 6480464 16554811;15489334;14702039;12477932;20379614 112937 H7C115;Q8NCI6 ABBA01031114;ABBA01031115;AK074712;AK124514;AMYH01004146;AP000859;BC011001;BC040605;BC063875;BC131702;CQ782642;CX760372;NM_001080407 AAH11001;BAC11155;CAF85896;NP_001073876;Q8NCI6 Hs.721382 1336258;1749057;1858534;2141736;2168374;5014051;5016478;5024272;5037552;5111739 AL033747;D11S2359;D11S2360;D11S4577;D2S1254;D8S2278;D8S2279;FB27F5;GDB:434012;SHGC-110682 FLJ90231 OTTHUMP00000205765;OTTHUMP00000235427;beta-galactosidase-1-like protein 3;galactosidase, beta 1 like 3 protein-coding ENSG00000166105 25147 08814;13998 VALIDATED 1318561 GLDC glycine dehydrogenase (decarboxylating) Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010] 9 9 p22 6522464 6635692 - 6532464 6645692 - 1580863;6480464;6907045;7240710;7242560 20645850 2268343;1996985;18581728;17361008;16601880;16482509;16450403;16404748;16344560;15864413;15851735;15824356;14552331;12477932;12402263;11592811;11286506;10873393;10798358;6790577;6778858;2773994;1993704;1634607;21145461;20877624;19615732;20301531;22225612;22699663;22505724;22171071 2731 P23378;Q9HDA3 ABBA01065391;ABBA01065392;ABBA01065393;AF246134;AI480362;AK308470;AK310534;AK314156;AL162411;AL353718;AMYH01019208;AMYH01019209;AW593954;BC111993;BC111995;CH471071;D90239;DA741442;DR002916;M63635;M64590;NG_016397;NM_000170 AAA36463;AAA36478;AAI11994;AAI11996;AAK28443;BAA14286;BAG36841;EAW58739;EAW58740;NP_000161;P23378 Hs.584238 1650169;1677292;1774755;2116180;2128099;2161335;2173144 D9S2017;D9S324;D9S937;SHGC-14149;SHGC-67420;STS-AA009796;WI-20011 GCE;GCSP;HYGN1;MGC138198;MGC138200;NKH OTTHUMP00000021050;glycine cleavage system P protein;glycine cleavage system protein P;glycine decarboxylase P-protein;glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein p);glycine dehydrogenase [decarboxylating], mitochondrial APPROVED protein-coding ENSG00000178445 4313 01996 238300;605899 REVIEWED 1344164 GLDN gliomedin 15 15 15 q21.2 28527112 28593608 + 49421005 49487502 + 51633713 51700210 + 1302401;6480464 12642876 16039564;14702039;12975309;12477932;22009740;22462667 342035 H0YM22;Q6ZMI3 ABBA01039083;ABBA01039084;ABBA01039085;AC020891;AK023623;AK095128;AK172756;AK308933;AK310755;AMYH01006642;AY358144;BC113397;BC113399;BK001262;BX538105;CH471082;NM_181789 AAI13398;AAI13400;AAQ88511;BAD18742;CAD98018;DAA01143;EAW77418;EAW77419;NP_861454;Q6ZMI3 Hs.526441 1664283;1682061;1710826;1761287;2120209;2137278;2181171;5093076 A009F18;D15S1204;G32505;RH44883;RH98759;SHGC-145291;SHGC-84163;WI-14763 CLOM;COLM;CRG-L2;CRGL2;FLJ23917;UNC-112 OTTHUMP00000162541;OTTHUMP00000162542;collomin;colmedin;gliomedin protein-coding ENSG00000186417 29514 12267 608603 VALIDATED 1347258 GLCCI1 glucocorticoid induced transcript 1 This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012] 7 7 7 p21.3 7976156 8096458 + 7974948 8095235 + 8008374 8128710 + 6480464 18029348;17081983;16964243;15489334;14702039;12690205;12557054;12477932;11591653;12853948;21991891;20360068;16344560;22304573;22796022;22660954 113263 H7C0B2;H7C0Q2;H7C2L5;Q86VQ1 AACC02000012;ABBA01056523;ABBA01056524;AC006042;AK055741;AK093655;AK126731;AL832860;AL833694;AMYH01017063;AMYH01017064;BC011254;BC050291;BG719015;CH236948;CH471073;DB059656;NG_032073;NM_138426 AAH11254;AAH50291;BAG54367;EAL24302;EAW93607;EAW93608;NP_612435;Q86VQ1 Hs.131673 1643836;1660621;1665495;1676908;1723899;1739097;1740659;2129068;2134227;2169209 A002M35;D20S1004;D7S2258;G35278;GDB:1318386;GDB:3755098;RH118687;RH66241;RH79779;SHGC-55956 FAM117C;GCTR;GIG18;TSSN1 OTTHUMP00000200889;OTTHUMP00000200939;glucocorticoid-induced transcript 1 protein APPROVED protein-coding ENSG00000106415 18713 17043 614283;614400 REVIEWED 1606840 GLI2 GLI family zinc finger 2 This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] 2 2 q14 121266327 121466321 + 121554867 121750229 + 5510013;5510026;6480464;6484113;6907045;7240710 20716670;20635334 22395235;9557682;15175043;15994174;8378770;12165851;19453261;19432668;19015636;18794086;18319260;18264131;18006803;17638910;16953426;16651270;16553965;16434164;16327884;16192985;14691458;14581620;12917489;12477932;11238441;11160734;10806483;10564661;10074179;9731531;8812445;8350401;8150204;2850480;2832761;20660365;20634891;12435627;19584075;19593328;19937600;19996099;20081843;20146882;20201926;20379614;20487506;20420697;20488474;20099029;20932654;21095584;20685856;20712011;20939080;21454528;23304807;22040957;21862631;22496449;22747683;23408573;21695716;22535603;21204792;20301702;23356443;22859956;23178452;23326517 2736 F2Z2B4;H0YG23;H7C1U2;P10070;Q1PSW9;Q59FV5 AB007295;AB007296;AB007297;AB007298;AB209354;ABBA01032228;ABBA01032229;ABBA01032230;ABBA01032231;ABBA01032232;AC016764;AC017033;AJ707583;AK300071;AMYH01010992;AMYH01010993;AY493737;AY493738;AY493739;BC111410;D14827;D14828;DQ004396;DQ004397;DQ004398;DQ086814;M20672;M20673;NG_009030;NM_005270 AAA35898;AAI11411;AAI72434;AAS72889;AAS72890;AAS72891;AAY58315;AAY58316;AAY58317;AAY87165;BAA03568;BAA03569;BAA25665;BAA25666;BAA25667;BAA25668;BAD92591;BAG61875;NP_005261;P10070 Hs.111867 1336569;1339143;1646941;1659565;1680641;1704074;1722669;1751111;1857475;2190717 D2S2260;D2S2265;D2S283;G60419;RH68635;RH92671;SHGC-105013;SHGC-83341;UniSTS:265490;WI-10818 HPE9;THP1;THP2 GLI-Kruppel family member GLI2;OTTHUMP00000204358;OTTHUMP00000204359;glioma-associated oncogene family zinc finger 2;oncogene GLI2;tax helper protein 1;tax helper protein 2;tax-responsive element-2 holding protein;tax-responsive element-25-bp sequence binding protein;zinc finger protein GLI2 APPROVED protein-coding ENSG00000074047 4318 01312 165230;610829 REVIEWED 1344225 GLI1 GLI family zinc finger 1 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 12 12 q13.2-q13.3 56140201 56152312 + 57853918 57866051 + 5510013;5510026;5491005;5490966;6480464;6484113;6907045 20716670;20635334;21186299;18772397 9118802;10564661;10806483;11238441;12165851;10504446;19432668;19329935;19219074;19214186;19189974;19071955;19015273;18924150;18829525;18754037;18524848;18475300;18425375;18410405;18378682;18281251;18203291;17638910;17628016;17461467;17392427;17196391;17179732;17115028;17102592;17018598;17007023;16887337;16880536;16786128;16701100;16537020;16434164;16293631;16229683;16003737;15905200;15606671;15555571;15489334;15314219;15175043;15111311;15024701;14555646;12907651;12477932;12426310;12221011;12138125;11948912;11717126;11032829;10951255;10559945;9731531;9524201;8378770;3563490;21494603;2850480;2832761;2497059;1320124;14611647;11960000;21424326;20581802;21357786;20083481;18559511;19191023;19473442;19556240;19593328;19706168;19706761;19859563;19887615;19948058;19996099;20049737;20050020;20081843;20175750;20333644;20445566;20603613;20647328;19902354;20711444;19203449;20211142;20561215;17035233;20972463;21129534;21169257;20799336;20941789;21172305;21127038;20818436;20857406;21442356;17054904;22745574;21059263;22868198;22266871;22730244;22901214;21209912;19878745;23645762;21757753;21543335;11001584;21630164;21720384;22797820;21726936;23580656;21633508;21577203;21940310;22040957;22407314;22768056;21666711;22086851;21661123;21921029;21618411;21861243;22623531;23185371;23337877;23395608;22374725;22365972;22911366;22094256;22949014;22110720;22114142;22114144;22558994;22295843;22398221;23446420;22486854;23178452;23336661 2735 B4DNF7;E9PIB9;E9PQQ1;F5H6H8;P08151 AB239135;AB239136;ABBA01026701;AC022506;AF316573;AK297899;AMYH01004518;BC013000;CH471054;GQ890670;NG_029564;NM_001160045;NM_001167609;NM_005269;X07384 AAH13000;AAM13391;ACX35434;BAG16751;BAG60219;CAA30297;EAW97013;NP_001153517;NP_001161081;NP_005260;P08151 Hs.632702 1698778;1744029;1774019;1792710;1795926;2157183 D12S1934;GDB:384866;GLI_108;PMC156767P1;RH102952;STS-X07384 GLI OTTHUMP00000235722;OTTHUMP00000235724;glioma-associated oncogene 1;glioma-associated oncogene family zinc finger 1;glioma-associated oncogene homolog 1 (zinc finger protein);oncogene GLI;zinc finger protein GLI1 APPROVED protein-coding ENSG00000111087 4317 01311 165220 REVIEWED 734388 GLG1 golgi glycoprotein 1 16 16 q22.3 73043357 73198518 - 74481325 74641042 - 1580863;6480464 20562859;7531823;8985126;19148508;18463975;16344560;15797922;14743216;14702039;12754519;12684670;12477932;11404363;9182700;9099943;8530051;2355176;1448090;21319273;19844255;21283832;22952844;21777203;21139048;21906983;22021370 2734 H3BM42;H3BQT1;H3BQU9;H3BRD8;Q92896 ABBA01058100;ABBA01058101;ABBA01058102;ABBA01058103;AC009053;AC009153;AC109599;AK025457;AK026972;AK027032;AK057359;AK095842;AK131501;AK172806;AK304156;AMYH01007810;AMYH01007811;AMYH01007812;BC031836;BC040133;BC060822;BG719482;BI561038;BX648396;CH471114;DA493962;HC309812;NM_001145666;NM_001145667;NM_012201;NR_027264;NR_027265;U28811;U64791 AAB02178;AAB06460;AAH60822;BAD18777;BAH14120;CBJ21213;EAW95682;EAW95683;EAW95684;EAW95685;EAW95686;NP_001139138;NP_001139139;NP_036333;Q92896 Hs.109731 1342211;1644424;1644426;1661571;1685381;1757479;1766353;1774471;1778400;2114853;2125971;2149607;2153616;5015861;5016478;5037552;5109281;5119229;7185938 D10S16;D16S3000E;D16S3115;D1S1425;D8S2279;G35012;GDB:434012;RH65131;RH67866;RH68602;RH69504;RH69584;RH70589;RH70747;SGC33788;SHGC-144852;SHGC-149692;SHGC-32349 CFR-1;DKFZp686L08213;ESL-1;FLJ23319;FLJ23967;FLJ32797;MG-160;MG160 E-selectin ligand 1;Golgi apparatus protein 1;cysteine-rich fibroblast growth factor receptor;golgi sialoglycoprotein MG-160;selectin, endothelial cell, ligand APPROVED protein-coding 4316 02855 600753 VALIDATED 1314553 GLI3 GLI family zinc finger 3 This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] 7 7 p13 41967072 42243137 - 42000547 42276618 - 1599838;1580863;5510013;5510026;5490966;6480464;6484113;6907045;7240710 9054938;20716670;20635334;18772397 20583172;10564661;10806483;11238441;10077605;16254602;18029348;19453261;19432668;19095771;18655123;18252217;18057317;18057099;18000979;17764085;17400206;17283082;17081983;17029207;16705181;16371461;16344560;15811011;15739154;15390181;14608643;12853948;12794692;12575661;12575660;12545275;12477932;12435627;12414818;12142027;10678662;10441570;10441342;10075717;9847074;9843199;9402960;9354785;9302279;8378770;7829101;7566098;2850480;2118997;1879832;14611647;11960000;20610541;21069353;20634891;20672375;20426846;21108399;20425471;21320477;17000779;17331723;17426814;18478223;18559511;19084012;19389374;19593328;19729595;19829694;19925654;19996099;20050020;20201963;20711444;20301619;20301638;21209912;21531006;11001584;21326280;21921029;21963094;22984994;23293081;22678783;22227409;22036096;22535956;23176625;23326517;23382691;23091001;19592253;22903559 2737 C9J9N4;F8WEV4;P10071 AA330409;AACC02000040;ABBA01058169;ABBA01058170;ABBA01058171;ABBA01058172;AC005026;AC005028;AC005158;AC073852;AI863961;AJ250408;AK299299;AK308429;AMYH01017201;BC113616;BC117168;BF194991;BI497308;CH236951;CH471073;DA713549;M20674;M57609;NG_008434;NM_000168 AAA52564;AAI13617;AAI17169;AAP21869;AAS01998;AAS02015;BAG61313;CAB59315;EAL24002;EAW94144;EAW94145;NP_000159;P10071 Hs.21509 1341881;1666349;1719671;1744187;1752413;1782044;1797584;1855126;2138462;2146191;2163862;2163898;2171420;7185567 D7S2746;D7S691;GDB:1317516;GDB:1317704;GDB:1318579;GDB:435308;GLI3;GLI3_973.2;RH123527;RH46965;RH65647;SHGC-106357;SHGC-152225 ACLS;GCPS;GLI3-190;GLI3FL;PAP-A;PAPA;PAPA1;PAPB;PHS;PPDIV DNA-binding protein;GLI-Kruppel family member GLI3;GLI3 form of 190 kDa;GLI3 full length protein;OTTHUMP00000159085;glioma-associated oncogene family zinc finger 3;oncogene GLI3;transcriptional activator GLI3;zinc finger protein GLI3 APPROVED protein-coding ENSG00000106571 4319 01313 146510;165240;174200;174700;175700;241800 REVIEWED 1354466 GLI4 GLI family zinc finger 4 8 8 8 q24.3 140658886 140668338 + 144420982 144430476 + 144349607 144359101 + 1580863;6480464 17081983;15489334;12477932;11181995;8641133;2850480 2738 E5RFY1;E5RG07;E5RGM1;E5RIX4;H0YBH2;P10075 AB209654;ABBA01005261;AC138696;AI829114;AMYH01019103;AY129020;BC014165;BI761835;CH471162;M20678;M20679;NM_138465 AAA35990;AAH14165;AAM98763;ABM83871;BAD92891;EAW82268;EAW82269;EAW82270;EAW82271;NP_612474;P10075 Hs.400533 1777528 AF021132 HKR4;ZNF928 GLI-Kruppel family member GLI4 (oncogene HKR4);OTTHUMP00000228008;glioma-associated oncogene family zinc finger 4;krueppel-related zinc finger protein 4;zinc finger protein GLI4 protein-coding ENSG00000250571 4320 01317 165280 VALIDATED 1316460 GLE1 GLE1 RNA export mediator This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 101917784 101955385 + 130306792 130344401 + 131266971 131304580 + 6480464;7240710 18724935;9618489;18204449;16000379;15489334;15164053;14702039;14645504;12668658;12477932;19322201;9683599;8125298;20379614;16341674;22064466;22357925;21963094;21139048;21906983;22505724 2733 B3KMG0;Q53GS7 AA806769;ABBA01043883;ABBA01043884;ABBA01043885;ABBA01043886;ABBA01043887;AF058922;AK001767;AK074801;AK222842;AK222854;AK290533;AL117584;AL356481;AL445287;AMYH01021748;BC030012;BM786801;CH471090;NG_012073;NM_001003722;NM_001499 AAC25561;AAH30012;ABM86235;ABW03696;BAD96562;BAD96574;BAF83222;BAG50972;CAB56006;EAW87802;EAW87803;EAW87804;NP_001003722;NP_001490;Q53GS7 Hs.522418 1775426;2149178;2164265 RH36010;STS-H69303;WI-13572 GLE1L;LCCS;LCCS1;hGLE1 GLE1 RNA export mediator homolog;GLE1 RNA export mediator-like;GLE1-like protein;GLE1-like, RNA export mediator;OTTHUMP00000022280;OTTHUMP00000022281;nucleoporin GLE1 APPROVED protein-coding ENSG00000119392 4315 04536 253310;603371;611890 REVIEWED 1605255 GLIPR1L1 GLI pathogenesis-related 1 like 1 12 12 12 q21.2 75395902 75431607 + 74014730 74050437 + 75728463 75764170 + 6480464 16714093;15489334;15340161;12975309;12477932 256710 H0YIW6;Q6UWM5 ABBA01026470;AC121761;AMYH01004592;AMYH01004593;AY358731;BC014603;CH471054;NM_152779 AAH14603;AAQ89093;ABM84946;ABW03638;EAW97301;EAW97302;NP_689992;Q6UWM5 Hs.567788 ALKN2972;MGC26856;PRO7434 GLIPR1-like protein 1;OTTHUMP00000241992;OTTHUMP00000241993 protein-coding ENSG00000173401 28392 14514 610395 PROVISIONAL 1606963 GLIPR1L2 GLI pathogenesis-related 1 like 2 This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 12 12 12 q21.2 75452335 75485195 + 74071156 74104087 + 75784850 75826177 + 6480464 16714093;14702039;12477932;22321011;18824526;20978342 144321 Q4G1C9 AA649108;ABBA01026470;AC121761;AK093175;AMYH01004593;BC016749;BC029557;BC032022;BX640916;CH471054;NM_001270396;NM_152436;NR_072995 AAH16749;AAH29557;ABM82459;ABM85648;BAC04085;CAE45957;EAW97303;EAW97304;EAW97305;NP_001257325;NP_689649;Q4G1C9 Hs.406728 1746831;1847467 D12S1087;G64772 MGC39497 GLIPR1-like protein 2;OTTHUMP00000241995;OTTHUMP00000241997;OTTHUMP00000241998 APPROVED protein-coding ENSG00000180481 28592 17538 610394 REVIEWED 1314328 GLIPR1 GLI pathogenesis-related 1 This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 12 12 q21.2 74160780 74181983 + 75874513 75895716 + 1580863;6480464 18199537;18030365;17825796;16714093;15489334;14871827;14702039;12477932;11971968;9482873;8973356;7607567;16712791;19913121;20628086;19483285;20356381;17207965;21045302;21777672;21922325;21931216;22025562 11010 B4E3S5;F6VVE8;J3QTC9;P48060 ABBA01026469;AC022507;AC121761;AF400440;AK304847;AK313449;AMYH01004593;BC005227;BC012510;CA421777;CB123261;CH471054;CQ834266;CQ834312;EF667354;JA738783;NM_006851;U16307;X91911 AAA82731;AAH12510;AAK92489;ABV21587;ADQ31908;BAG65587;CAA63005;CAH05348;CAH05371;CCF77044;EAW97306;EAW97307;EAW97308;NP_006842;P48060 Hs.205558 1669090;1698260;1739609;1740633;1858144;2117656;2118221;2123715;2128925;2148384;2158059;2181702;2187190;5108035 D12S1480E;D20S989;G35331;RH102666;RH149;RH18004;RH46456;RH46985;SGC32697;SHGC-31221;SHGC-35465;SHGC-56842;STS-H56474;STS-N32834 CRISP7;GLIPR;RTVP1 GLI pathogenesis-related 1 (glioma);OTTHUMP00000241999;OTTHUMP00000242001;gliPR 1;glioma pathogenesis-related protein 1;protein RTVP-1;related to testis-specific, vespid, and pathogenesis proteins 1;testes-specific vespid and pathogenesis protein 1 APPROVED protein-coding 17001 04071 602692 REVIEWED 1348907 GLIS3 GLIS family zinc finger 3 This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008] 9 9 9 p24.2 3742092 4217855 - 3814128 4290035 - 3824128 4300035 - 737633;1580863;6480464;7240710 12477932 14500813;18840781;18519826;16715098;16189514;15489334;14702039;21515849;19430480;20081858;20378605;20379614;20419449;21949744;21543335;21747906;22158537;22581228;23667531;22961080;23408906 169792 F8WEV9;Q1PHJ2;Q1PHJ8;Q8NEA6 AA933816;AB065086;AB209404;ABBA01065425;ABBA01065426;ABBA01065427;ABBA01065428;ABBA01065429;AK055907;AK075059;AK096318;AL133283;AL137071;AL158012;AL162419;AL359095;AMYH01019198;BC033899;DQ438877;DQ438878;DQ438879;DQ438880;DQ438881;DQ438882;DQ438886;DQ438887;DQ438888;DQ438889;DQ438890;DQ438891;DQ438892;DQ438893;DQ438894;DQ438895;DQ438896;DQ438897;DQ438898;DQ438899;DQ438900;DQ438901;DQ438902;DQ438903;DQ438904;DQ438905;DQ438907;NG_011782;NM_001042413;NM_152629 AAH33899;ABE66434;ABE66435;ABE66436;ABE66437;ABE66438;ABE66439;ABE66440;ABE66441;ABE66442;ABE66443;ABE66444;ABE66445;ABE66446;ABE66447;ABE66448;ABE66449;ABE66450;ABE66451;ABE66452;ABE66453;ABE66454;ABE66455;ABE66456;ABE66457;ABE66458;ABZ92210;BAB93523;BAD92641;NP_001035878;NP_689842;Q8NEA6 Hs.162125 1334928;1336239;1337864;1338383;1341607;1342269;1696464;1707334;1710080;1719169;1722783;1756021;1757411;1765415;1768419;1852295;2143269;2153780;2157607;2174006;5094821;7186903;7187577 25840;AAAAC001;D9S178;D9S1792;D9S1813;D9S1871;D9S1873;D9S288;G60333;RH123302;RH16280;RH48665;SHGC-142834;SHGC-144801;SHGC-148901;SHGC-34575;SHGC-52421;SHGC-79288;SHGC-79786;SHGC-83701;WI-10737 FLJ38999;FLJ90578;MGC33662;ZNF515 GLI-similar 3;OK/KNS-cl.4;OTTHUMP00000020999;OTTHUMP00000214955;zinc finger protein 515;zinc finger protein GLIS3 APPROVED protein-coding ENSG00000107249 28510 13582 610192;610199 REVIEWED 1351403 GLIS3-AS1 GLIS3 antisense RNA 1 9 9 9 p24.2 3816553 3819155 + 3888728 3891254 + 3898646 3901248 + 737633;6480464 12477932 15489334 84850 ABBA01065428;AL137071;AMYH01019198;BC007366;CH471071;NG_011782;NR_026663 EAW58791 Hs.676113 2174006;5109839 D17S877;SHGC-52421 C9orf70;MGC16153 APPROVED miscrna ENSG00000237009 28260 VALIDATED 1345602 GLIS2 GLIS family zinc finger 2 This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010] 16 16 16 p13.3 4589173 4596546 + 4322226 4329599 + 4382225 4389598 + 1580863;6480464;7240710 17618285;17344476;17289029;14702039;14500813;12477932;11741991;11738817;11262234;21068128;21127075;23153540 84662 Q9BZE0 ABBA01026769;AC005356;AC012676;AF325914;AK095566;AK096936;AK124985;AK126918;AMYH01007103;BC033763;CH471112;NG_016391;NM_032575 AAI41549;AAI46549;AAK00954;BAG53086;BAG54396;EAW85317;EAW85318;NP_115964;Q9BZE0 Hs.592087 1681736;1736414 D14S675E;RH91717 FLJ38247;NKL;NPHP7 GLI-similar 2;GLI-similar protein 2;Kruppel-like zinc finger protein GLIS2;OTTHUMP00000159841;nephrocystin-7;neuronal Krueppel-like protein;zinc finger protein GLIS2 APPROVED protein-coding ENSG00000126603 29450 12256 608539;611498 REVIEWED 1343612 GLIS1 GLIS family zinc finger 1 GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008] 1 1 1 p32.3 52259210 52487577 - 53744494 53972465 - 53971906 54199877 - 1580863;6480464 18029348;16417217;14702039;14500813;12477932;12042312;21654807;20339536;20379614;22759478 148979 Q8NBF1 ABBA01074736;ABBA01074737;ABBA01074738;ABBA01074739;AC105280;AK090634;AK093474;AL049745;AL591720;AL603915;AMYH01000629;AMYH01000630;BC101799;BC104911;CH471059;NM_147193 AAI01800;AAI04912;ABZ92209;BAC03494;BAC04178;EAX06734;NP_671726;Q8NBF1 Hs.306691 1688112;1758367;1764527;1781604;1855776;2179204 AL009402;AL009916;RH98910;SHGC-148122;SHGC-148168;SHGC-149831 FLJ36155 GLI-similar 1;Gli5-like;Glis1-like;OTTHUMP00000009750;zinc finger protein GLIS1 APPROVED protein-coding ENSG00000174332 29525 13581 610378 VALIDATED 1316497 GLIPR2 GLI pathogenesis-related 2 9 9 9 p13.3 36070326 36097488 + 36126742 36153903 + 36136742 36163903 + 6480464 16303743;15489334;15164053;14702039;12477932;12137952;11865038;20237496;22939629;21139048;21890473;22560898;23000965;19322201;22505724 152007 Q5VZR0;Q68CU1;Q9H4G4 ABBA01050434;AJ011129;AK074488;AK075091;AK091288;AK298741;AK307243;AL158830;AMYH01019348;AY039756;BC017918;CH471071;CQ783112;CR749781;NM_022343 AAH17918;AAK83460;BAC11019;BAC11395;BAG60887;CAC12812;CAF86319;CAH18647;EAW58315;EAW58316;EAW58317;NP_071738;Q9H4G4 Hs.493819 1652018;1652633;1725777;2118074;2139984 A002G23;Cda1bg09;G62131;RH36474;SHGC-57516 C9orf19;GAPR-1;GAPR1 17kD fetal brain protein;Golgi-associated plant pathogenesis-related protein 1;OTTHUMP00000021371;OTTHUMP00000021372;gliPR 2;glioma pathogenesis-related protein 2;golgi-associated PR-1 protein protein-coding ENSG00000122694 18007 06187 607141 PROVISIONAL 1603816 GLOD5 glyoxalase domain containing 5 This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011] X X X p11.23 53031515 53043857 - 48508985 48516795 + 48620154 48632064 + 6480464 18029348;12477932;19377476 392465 A6NK44;H7C348 ABBA01046055;ABBA01046056;ABBA01046057;AC115617;AC231533;AF196970;AI458936;AMYH01022290;BC067236;CH471224;DY655159;NG_021291;NM_001080489 A6NK44;EAW50754;NP_001073958 Hs.437539 5016478 GDB:434012 OTTHUMP00000025804;glyoxalase domain-containing protein 5 APPROVED protein-coding ENSG00000171433 33358 REVIEWED 731561 GLP2R glucagon-like peptide 2 receptor The GLP2 receptor (GLP2R) is a G protein-coupled receptor superfamily member closely related to the glucagon receptor ans GLP1 receptor. Glucagon-like peptide-2 (GLP2) is a 33-amino acid proglucagon-derived peptide produced by intestinal enteroendocrine cells. Like glucagon-like peptide-1 (GLP1) and glucagon itself, it is derived from the proglucagon peptide encoded by the GCG gene. GLP2 stimulates intestinal growth and upregulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. Moreover, GLP2 prevents intestinal hypoplasia resulting from total parenteral nutrition. GLP2R, a G protein-coupled receptor superfamily member is expressed in the gut and closely related to the glucagon receptor (GCGR) and the receptor for GLP1 (GLP1R). [provided by RefSeq, Jul 2008] 17 17 p13.3 9670106 9733747 + 9729381 9793022 + 632881;1580863;6480464 9990065 18829546;16448646;16401478;15817468;15670850;15544847;15471943;12477932;11738243;11238747;10982769;19913121;20628086;12036966;18240029;19861958;20379614;20468064;20800603;21167157;21326311;22951144 9340 E9PC86;H0Y6C2;I3L0P5;I3L151;O95838 ABBA01054964;ABBA01054965;ABBA01054966;AC026591;AF105367;AK295765;AK307283;AK314269;AMYH01008102;BC019818;BC041176;BC043390;BC096261;BC096262;BC096263;BC096264;CH471108;NM_004246 AAD16895;AAH19818;AAH41176;AAH43390;AAH96261;AAH96262;AAH96263;AAH96264;BAG36931;BAG58590;EAW90015;EAW90016;NP_004237;O95838 Hs.248202 1755301;2109351 GLP2R_7942;SHGC-142190 GLP-2 receptor;GLP-2-R;GLP-2R;OTTHUMP00000160769;glucagon-like peptide 2 receptor APPROVED protein-coding 4325 04713 603659 REVIEWED 1315584 GLMN glomulin, FKBP associated protein This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 1 1 p22.1 92484543 92537154 - 92711955 92764566 - 1598992;6480464 11845407 22280104;11571281;11164950;12604780;16344560;15489334;12904573;12752563;12477932;11329013;10945476;10364524;10051602;8955134;16169070;22678819;22092580;22405651;21903422;21963094;21139048;21906983;22748924;22505724 11146 B4DJ85;M0QX84;M0QXG8;Q92990 ABBA01045548;ABBA01045549;ABBA01045550;AJ302727;AJ302728;AJ302729;AJ302730;AJ302735;AJ347709;AK295971;AL451010;AMYH01000796;BC001257;BG187128;CH471097;DA729622;NG_009796;NM_053274;U73704 AAC50908;AAH01257;BAG58747;CAC69882;CAC82938;CAC88124;EAW73097;EAW73098;NP_444504;Q92990 Hs.49105 1690870;2136834 RH12743;SHGC-75150 FAP;FAP48;FAP68;FKBPAP;GLML;GVM;VMGLOM FK506-binding protein-associated protein;FKBP-associated protein;OTTHUMP00000011939;OTTHUMP00000011940;glomulin APPROVED protein-coding ENSG00000174842 14373 03451 601749 REVIEWED 736638 GLP1R glucagon-like peptide 1 receptor 6 6 p21 39124595 39163498 + 39016557 39055520 + 1624350;1624351;1624349;1624356;1580863;6480464;1598440 15879053;15279492;8898756;10580413;12925848 21046358;20452396;22492091;8405712;7589461;19386626;19077438;18541709;18372345;18287102;17475961;17444618;16931572;16644694;15975668;15686481;15670850;15528268;15489334;15364163;14574404;12477932;12034449;11116211;11076863;10990079;10382665;9213353;8404634;8392011;8216285;8112494;7843404;7517895;19913121;20347207;20628086;20805279;15452121;17505054;18240029;19755420;19815559;19820010;19859570;19861722;19890029;20002095;20225248;20468064;20483198;20649595;20690636;20800603;20374430;20529866;20823098;18577758;12036966;23091034;20835917;21095545;21562063;21616920;23362875;21663496;21952200;22079758;22412906;21862620;21868452;21744074;22031513;22234371;21745271;22112810;22105074;22147709;22147710;18248821;22693487 2740 P43220 AB065685;ABBA01038307;AL035690;AMYH01016288;AY439112;BC112126;BC113493;CH471081;L23503;NM_002062;U01104;U01156;U01157;U10037;U66062 AAA03614;AAA17021;AAA62471;AAA63787;AAB64013;AAC50050;AAI11844;AAI12127;AAI13494;AAR05444;BAC05908;EAX03970;EAX03971;EAX03972;EAX03973;EAX03974;NP_002053;P43220 Hs.389103 1336824;1743965;1850989;2107157;2145970;2169556;2179731;5117306 D6S973;G15954;GDB:383796;GDB:460430;GLP1R_7264;RH37424;RH46831;SGC35239 MGC138331 GLP-1 receptor;GLP-1-R;GLP-1R;OTTHUMP00000016340;glucagon-like peptide 1 receptor protein-coding ENSG00000112164 4324 00677 138032 VALIDATED 1350387 GLO1 glyoxalase I The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008] 6 6 p21.3-p21.1 38751679 38778930 - 38643701 38670952 - 1580863;6480464;6907045;7242571;7242566;7242569;7242570;7242567;7242568 18079478;19211689;21738003;20185929;18413187;17346350 21029593;11489834;10807791;16130169;7684374;19470168;19452310;19412133;19379515;18721844;18455873;18448827;18344682;17722011;17463067;16803681;16555297;16352396;16344560;16305054;15950319;15489334;14574404;12942785;12604221;12477932;11963573;11785295;11513094;11436564;10564821;10521255;9705294;9593316;9218781;8670058;8449929;1686020;1602151;1150236;910130;511191;141008;20544845;20554694;20712647;17207965;20093988;20180986;20379614;20398646;20398908;22939629;20542521;21386123;21056979;19238574;21370249;20454679;21253391;22505724;21491613;21139048;21890473;22188542;22479608;22614840;22653787;21988832;22771726;23000965;23201419 2739 Q04760 AB209801;ABBA01038305;AF146651;AK129573;AK130312;AK293345;AK312662;AL391415;AL833442;AMYH01016287;BC001741;BC011365;BC015934;BT019987;BT019988;BU954454;CH471081;D13315;DA342581;L07837;NG_012074;NM_006708;S83285 AAA52565;AAB49495;AAD38008;AAH01741;AAH11365;AAH15934;AAV38790;AAV38791;ADQ33143;BAA02572;BAD93038;BAG35544;BAG56861;EAX03964;EAX03965;NP_006699;Q04760 Hs.268849 1705498;1725779;1771203;1775195;1794026;2133364;2141093;2151453 G62072;PMC310739P4;RH46862;RH68098;SHGC-31456;SHGC-83840;STS-D13315;WI-19791 GLOD1;GLYI OTTHUMP00000016339;S-D-lactoylglutathione methylglyoxal lyase;aldoketomutase;glx I;glyoxalase domain containing 1;ketone-aldehyde mutase;lactoyl glutathione lyase;lactoylglutathione lyase;methylglyoxalase APPROVED protein-coding ENSG00000124767 4323 00730 138750 REVIEWED 1315949 GLOD4 glyoxalase domain containing 4 17 17 17 p13.3 674641 697712 - 609320 632297 - 662549 685571 - 6480464 15489334;14702039;12897971;12621583;12528892;12477932;11642406;10810093;20877624;16344560;21832049;21139048;21890473;21900206;19322201 51031 B7Z403;I3L1F4;I3L1I0;I3L277;I3L2C2;I3L3G0;I3L3Q4;I3NI24;I3NI27;K7ENF2;Q9HC38 AA721638;ABBA01054619;AC087392;AF061730;AF151908;AF177342;AF177343;AK001488;AK122678;AK226083;AK292315;AK296584;AK301751;AMYH01007979;BC008605;BC010902;BC015848;CH471108;DA608953;NM_016080 AAD34145;AAG17986;AAG17987;AAG43141;AAH08605;AAH15848;BAF85004;BAG53661;BAG63213;BAH12389;EAW90643;EAW90644;EAW90645;EAW90646;EAW90647;EAW90648;EAW90649;EAW90650;NP_057164;Q9HC38 Hs.279061;Hs.595572 1648471;1697978;5015619;5015881;5015961;5024761;5037552 D11S3114;D15S1477;D8S2279;GDB:335751;RH102518;RH36905;STS-AA030010 C17orf25;CGI-150;HC71 chromosome 17 open reading frame 25;glyoxalase domain-containing protein 4 protein-coding ENSG00000167699 14111 12678 VALIDATED 730939 GLRA1 glycine receptor, alpha 1 The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 5 5 q32 151182361 151284596 - 151202074 151304397 - 704404;1598573;1580863;6480464;7240710 14749434 2155780;8137830;15748848;11929858;11973623;8298642;7506679;19286654;19086053;19073849;19049967;18806798;18710260;18690053;18658152;18292428;18043720;18036150;17887775;17655979;17655760;17534957;17469203;17434460;17433503;17181559;17040914;16941485;16832093;16361257;16344560;16144831;16109711;16078201;15952785;15951389;15771552;15489334;15489161;15365143;15287733;15147510;14981077;14698963;14593111;14563849;14525990;12954867;12826676;12766618;12746425;12740384;12679369;12667090;12661758;12477932;12356883;12239220;12237328;12080117;11994009;11981021;11981020;11781706;11702206;11580237;10514101;9920650;9350397;9067762;8973915;8733061;8651283;8571969;8125298;7981700;7925268;7920629;7881416;7806244;7611730;1845981;1355335;20198385;20631190;19626554;19705103;19732286;19874574;19959465;8717357;20959090;20301437;20959630;11751269;21414903;21463577;23090334;22995908;21917927;22264702;21955162;22279218;22037201;22132222;23035114 2741 E5RJ70;P23415;Q14C71 ABBA01026258;ABBA01026259;ABBA01026260;AC010312;AC091982;AK226046;AK308539;AK312702;AMYH01015713;BC074980;BC114947;BC114967;CH471062;DA749850;NG_011764;NM_000171;NM_001146040;U77732;X52009 AAB38405;AAH74980;AAI14948;AAI14968;BAG35580;CAA36258;EAW61656;EAW61657;NP_000162;NP_001139512;P23415 Hs.121490 1780974;1850959;1852095;2217366 D5S2588;GLRA1_2895;RH71281;bac5555T HKPX1;MGC138878;MGC138879;STHE OTTHUMP00000160616;OTTHUMP00000224176;glycine receptor 48 kDa subunit;glycine receptor strychnine-binding subunit;glycine receptor subunit alpha-1;glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) APPROVED protein-coding ENSG00000145888 4326 00719 138491;149400 REVIEWED 731909 GLRA2 glycine receptor, alpha 2 The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] X X p22.2 14457571 14659855 + 14547420 14749934 + 1580863;6480464 2155780;19086053;16344560;16144831;15489334;15302677;15147510;12477932;11409700;9674912;8973915;8889549;16169070;19874574;20237295;17207965;22606311 2742 C9JBL4;P23416 AA081959;ABBA01071210;ABBA01071211;ABBA01071212;ABBA01071213;ABBA01071214;ABBA01071215;ABBA01071216;ABBA01071217;ABBA01071218;ABBA01071219;ABBA01071220;ABBA01071221;ABBA01071222;ABBA01071223;ABBA01071224;AC003658;AC003683;AF053487;AF053488;AF053489;AF053490;AF053491;AF053492;AF053493;AF053494;AF053495;AK289561;AK297268;AK297304;AK312591;AMYH01022100;AMYH01022101;AY437083;AY437084;BC032864;BC045547;CH471074;CR450343;DA495302;NG_016459;NM_001118885;NM_001118886;NM_001171942;NM_002063;U77731;X52008 AAB38272;AAB38273;AAC35290;AAH32864;AAR87842;AAR87843;ADQ32486;BAF82250;BAG35485;BAH12535;BAH12541;CAA36257;CAG29339;EAW98858;EAW98859;EAW98860;NP_001112357;NP_001112358;NP_001165413;NP_002054;P23416 Hs.2700 1337962;1339292;1647599;1649630;1658661;1701880;1702270;1702804;1717787;2110425;2150294;2153102;5017885;7184869 1410;AF026404;AFM120xa9;DXS7091;DXS7594;DXS7951;DXS987;GDB:604017;GLRA2;GLRA2_2389;GLYRA1;RH121803;RH71280 GLR OTTHUMP00000022950;OTTHUMP00000225926;glycine receptor alpha 2 subunit;glycine receptor subunit alpha-2;glycine receptor, alpha-2 polypeptide APPROVED protein-coding ENSG00000101958 4327 02379 305990 REVIEWED 1602141 GLRA4 glycine receptor, alpha 4 This gene encodes a protein which has a neurotransmitter-gated ion-channel ligand binding domain. The encoded protein is very similar to a mouse protein which is a subunit of the retinal glycine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X q22.2 103401274 103422554 - 102848928 102866560 - 102962272 102983552 - 6480464 11181995;12477932 441509 F8WCE1;Q5JXX5 ABBA01032872;ABBA01032873;ABBA01032874;AK309010;AL049610;AMYH01022798;CH471190;NG_021199;NM_001024452;NM_001172285;Z93848 EAW54695;NP_001019623;NP_001165756;Q5JXX5 Hs.533289 1772733 RH46065 OTTHUMP00000023760;glycine receptor subunit alpha-4 APPROVED protein-coding ENSG00000188828 31715 VALIDATED 1346424 GLRXP1 glutaredoxin (thioltransferase) pseudogene 1 20 20 20 q11.2 32938205 32938901 - 35664568 35665093 - 36230955 36231651 - 11702225;11696981 170522 ABBA01006623;AF227512;AL109614;AMYH01011898;NG_001013 GLRXP;bA425M5.1 APPROVED pseudo 16544 INFERRED 1347944 GLRXP2 glutaredoxin (thioltransferase) pseudogene 2 14 14 14 q32.11 70621147 70622839 + 89643642 89645141 + 90573955 90575647 + 11702225 171418 ABBA01030509;AF358259;AL355074;AMYH01005943;NG_001323 APPROVED pseudo 18376 INFERRED 2292183 GLRXP3 glutaredoxin (thioltransferase) pseudogene 3 5 5 5 q34 157209224 157210605 - 161111032 161111352 - 161177462 161178843 - 100132510 ABBA01044201;AC091944;AMYH01015765;CH471062;NG_009942 EAW61540;EAW61541 GLRXL pseudo 34049 INFERRED 732840 GLRA3 glycine receptor, alpha 3 The GLRA3 gene encodes the alpha-3 subunit of the neuronal glycine receptor, a ligand-gated chloride channel composed of ligand-binding alpha and structural beta polypeptides (Kingsmore et al., 1994 [PubMed 7894176]).[supplied by OMIM, Nov 2009] 4 4 4 q34.1 172892194 173079664 - 175799773 175987040 - 175563198 175750465 - 1580863;704404;6480464 19086053;16344560;15489334;12477932;12358726;11496371;10737800;9677400;19661067;19959465;7894176 8001 O75311;Q9UPF3 ABBA01070394;ABBA01070395;ABBA01070396;AC093868;AC107216;AC131948;AF017724;AF018157;AMYH01014724;AMYH01014725;BC036086;BI600831;CH471056;CV381684;DA409556;NM_001042543;NM_006529;U93917 AAC39917;AAC39918;AAC39919;AAH36086;AAY40916;ABM81900;ABM85074;EAX04730;EAX04731;EAX04732;EAX04733;NP_001036008;NP_006520;O75311 Hs.413099 1335155;1648598;1661235;1718949;2166807;7187958 D4S1539;D4S3331;G31579;RH123181;SHGC-13973 OTTHUMP00000194692;OTTHUMP00000194693;glycine receptor alpha 3 subunit;glycine receptor subunit alpha-3;glycine receptor, alpha-3 polypeptide;ligand gated ion channel APPROVED protein-coding ENSG00000145451 4328 02688 600421 VALIDATED 731361 GLRB glycine receptor, beta This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q31.3 158216788 158312304 + 157997277 158093242 + 1598573;1580863;6480464 14749434 8717357;15748848;11929858;15215304;19086053;16344560;15489334;14698963;14563849;12477932;11496371;10395998;9676428;7546736;21391991;14741407;15028279;18621921;18985319;19020133;19204413;19705103;19834535;19874574;20201926;21829170;23238346;22132222;22535951;22606311;23184146 2743 D6R9Y9;D6RD86;P48167 ABBA01070189;ABBA01070190;AC079403;AF094754;AF094755;AK290617;AMYH01014637;AY426990;BC022502;BC032635;CA437106;CD013911;CH471056;DA168145;DA528659;DB479295;NG_015823;NM_000824;NM_001166060;NM_001166061;U33267 AAB37750;AAC71033;AAC71034;AAH32635;ABM81785;ABM84940;BAF83306;EAX04872;EAX04873;NP_000815;NP_001159532;NP_001159533;P48167 Hs.32973 1653393;1763165;2110427;2123035;2180010;2186009 GLRB_977;SHGC-146895;SHGC-31659;SHGC-50349;SHGC-59742;SHGC-67413 HKPX2 OTTHUMP00000220896;OTTHUMP00000220897;glycine receptor 58 kDa subunit;glycine receptor subunit beta;glycine receptor, beta subunit APPROVED protein-coding ENSG00000109738 4329 11751 138492;614619 REVIEWED 736383 GLRX glutaredoxin (thioltransferase) This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011] 5 5 q14 95175431 95184137 - 95149553 95158577 - 1580863;6480464 14702039;7851394;16884690;19265039;18977241;18682255;18560520;18309294;17601350;17272816;17185628;17064412;16893901;16311508;15637068;15489334;15342556;15297967;15184054;12892645;12723971;12556467;12477932;12244106;12029072;11832487;11297543;11274078;11222536;11146114;11024467;10737800;10508218;10350489;10037490;9860827;9677297;9417094;9332366;9325327;8838810;8645179;8549805;8019414;8018729;7961993;20566629;20877624;21078302;19578876;19896490;22634633;21323311;22977247;21988832;23000965;23370801;21890473;21900206;21454804;19038358;22505724 2745 P35754 AA485178;ABBA01069246;AC008821;AF069668;AF115105;AF162769;AK125636;AK311868;AMYH01015490;AW128930;AW792936;BC005304;BC010965;BC106075;BE738446;BG547098;BP196332;BT006689;BU949348;BX106369;CH471084;CR450312;CR542165;D21238;DQ026062;HB874239;HB874319;HB874794;HB874874;HB881150;HB881230;HB882297;HB882377;HB890896;HB890976;HB892720;HB892800;HB894018;HB894098;HB895368;HB895448;HB903199;HB903279;HC931648;HC931728;HC932203;HC932283;HC938559;HC938639;HC939706;HC939786;HC948305;HC948385;HC950129;HC950209;HC951427;HC951507;HC952777;HC952857;HC960608;HC960688;NG_029797;NM_001118890;NM_001243658;NM_001243659;NM_002064;X76648 AAC35798;AAC98318;AAD43353;AAH05304;AAH10965;AAI06076;AAP35335;AAY29058;ABM83423;ABM86635;BAA04769;BAG34809;CAA54094;CAG29308;CAG46962;CBF61363;CBF61403;CBF61772;CBF61812;CBF64857;CBF64897;CBF65421;CBF65461;CBF69710;CBF69794;CBF71563;CBF71645;CBF72880;CBF72962;CBF74203;CBF74290;CBF82256;CBF82341;CBU86391;CBU86431;CBU86648;CBU86688;CBU89728;CBU89768;CBU90292;CBU90332;CBU94391;CBU94431;CBU95270;CBU95310;CBU95899;CBU95939;CBU96548;CBU96588;CBV00296;CBV00336;EAW96056;EAW96057;NP_001112362;NP_001230587;NP_001230588;NP_002055;P35754 Hs.28988 1722317;2120364 G60224;WIAF-1594 FLJ43648;GRX;GRX1;MGC117407 OTTHUMP00000149979;OTTHUMP00000222608;OTTHUMP00000222609;OTTHUMP00000222610;OTTHUMP00000222611;TTase-1;glutaredoxin 1 (thioltransferase);glutaredoxin-1;thioltransferase-1 APPROVED protein-coding ENSG00000173221 4330 02707 600443 REVIEWED 1317443 GLRX2 glutaredoxin 2 The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011] 1 1 q31.2 191332223 191341867 - 193065595 193075244 - 6480464 11297543;11397793;17961515;17546662;17121859;17115894;17065220;16710414;15917333;15649413;15489334;15328416;15297967;15184054;14676218;12477932;10810093;9325327;18029348;20877624;20929858;18816065;19292455;20547138;14503974;14713336;15146197;16112873;16246122;16712839;17355958;17680760;18092940;19038292;19119916;19184988;19216714;19290777;19383853;19723146;20064440;20829229;21029046;21437321;21586322;8889549;22139372 51022 Q9NS18 AA056513;AA887118;ABBA01027636;AF132495;AF151891;AF290514;AL136370;AMYH01001593;AY038988;BC009669;BC028113;BQ432881;BU157087;CH471067;CN362908;DQ194815;HB874295;HB874309;HB874850;HB874864;HB881206;HB881220;HB882353;HB882367;HB890952;HB890966;HB892776;HB892790;HB894074;HB894088;HB895424;HB895438;HB903255;HB903269;HC931704;HC931718;HC932259;HC932273;HC938615;HC938629;HC939762;HC939776;HC948361;HC948375;HC950185;HC950199;HC951483;HC951497;HC952833;HC952847;HC960664;HC960678;NG_029745;NM_001243399;NM_016066;NM_197962 AAD34128;AAF37320;AAH09669;AAH28113;AAK72499;AAK83089;ABA03170;CBF61391;CBF61398;CBF61800;CBF61807;CBF64885;CBF64892;CBF65449;CBF65456;CBF69768;CBF69783;CBF71621;CBF71635;CBF72937;CBF72952;CBF74264;CBF74280;CBF82314;CBF82330;CBU86419;CBU86426;CBU86676;CBU86683;CBU89756;CBU89763;CBU90320;CBU90327;CBU94419;CBU94426;CBU95298;CBU95305;CBU95927;CBU95934;CBU96576;CBU96583;CBV00324;CBV00331;EAW91248;EAW91249;NP_001230328;NP_057150;NP_932066;Q9NS18 Hs.458283 1647669;1757841 SHGC-146669;SHGC-32745 CGI-133;GRX2;bA101E13.1 OTTHUMP00000033766;OTTHUMP00000033767;bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2);glutaredoxin 2;glutaredoxin-2, mitochondrial APPROVED protein-coding ENSG00000023572 16065 12112 606820 REVIEWED 1350682 GLT6D1 glycosyltransferase 6 domain containing 1 The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011] 9 9 9 q34.3 109033335 109049219 - 137655323 137671207 - 138515502 138531386 - 1580863;6480464 19218399;17298992;8218172;2649653;2341393;2283726;19897590;20800603 360203 Q7Z4J2 ABBA01030041;AL354761;AMYH01021841;AY336054;CH471090;NM_182974 AAI48648;AAQ01588;EAW88171;NP_892019;Q7Z4J2 Hs.522491 1765673;2107159 GLTDC1__6811;SHGC-149112 GLTDC1;GT6M7 OTTHUMP00000022547;galactosyltransferase family 6 domain containing 1;galactosyltransferase family 6 domain-containing 1;glycosyltransferase 6 domain-containing protein 1 APPROVED protein-coding ENSG00000204007 23671 13584 613699 PROVISIONAL 1604019 GLS2 glutaminase 2 (liver, mitochondrial) The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 12 12 q13.3 55151003 55168448 - 56864736 56882181 - 6480464;6907045 10620514;11163757;19062176;18088378;17669570;16637659;15496140;14675161;12477932;12444921;12163477;11130979;9110174;8619474;20351271;20378837;20877624;22888977;22049910;21886157;22286219;22679499;15123239;16344560;21988832;22916037 27165 A8K0A6;B7Z8Q9;C9J3Q2;F8WBC9;F8WBL8;F8WEU7;G5E9X4;Q9UI32 ABBA01008424;ABBA01008425;AC097104;AF038170;AF110329;AF110330;AF110331;AF223944;AF279698;AF348119;AI241400;AK000467;AK289471;AK294822;AK303772;AMYH01004505;BC025661;BC036929;BC048344;BC059370;BC119767;BC119768;BI916699;CH471054;DA060302;DA180204;HM775422;HM775423;HM775424;NM_001280796;NM_001280797;NM_001280798;NM_013267 AAF21933;AAF21934;AAF33826;AAG17701;AAI19768;AAI19769;AAI66649;AAO13298;ADR77821;ADR77822;ADR77823;BAF82160;BAG57935;BAH14045;EAW96942;EAW96943;EAW96944;EAW96945;NP_001267725;NP_001267726;NP_001267727;NP_037399;Q9UI32 Hs.212606 1676976;1687690;2109353;2114816;5020414;5109281 A006P42;D1S1425;GLS2_9536;L17688;RH93044;RH93492 GA;GLS;LGA;MGC71567;hLGA L-glutaminase;L-glutamine amidohydrolase;OTTHUMP00000179139;breast cell glutaminase;glutaminase GA;glutaminase I;glutaminase liver isoform, mitochondrial;phosphate-activated glutaminase;phosphate-dependent glutaminase;truncated glutaminase 2 APPROVED protein-coding ENSG00000135423 29570 05901 606365 REVIEWED 1318119 GLRX5 glutaredoxin 5 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010] 14 14 14 q32.13 76057010 76066743 + 95071076 95080808 + 96001323 96011055 + 6480464;7240710 17485548;16110529;15489334;12477932;9325327;19731322;20364084;20379614;21029046;20877624;21832049;18029348;21988832;23251661 51218 H0YJM6;Q86SX6 AB223038;ABBA01048602;AF113691;AI089763;AL133467;AMYH01005975;BC023528;BC047680;BC071690;BC105275;BI259789;BI834047;BX248075;CH471061;CS185633;DQ083331;NG_021217;NM_016417 AAF29586;AAH23528;AAH47680;AAZ30731;BAF02301;CAD62364;CAJ42814;EAW81606;EAW81607;NP_057501;Q86SX6 Hs.744943 1655929;1685726;1685728;1736402;1755047;1773152 D14S1246;D14S660E;RH1627;RH93740;RH98225;SHGC-141988 C14orf87;FLB4739;GRX5;MGC14129;PR01238;PRO1238 OTTHUMP00000246628;chromosome 14 open reading frame 87;glutaredoxin 5 homolog;glutaredoxin-related protein 5, mitochondrial;monothiol glutaredoxin-5 APPROVED protein-coding 20134 12659 205950;609588 REVIEWED 1606714 GLT1D1 glycosyltransferase 1 domain containing 1 12 12 12 q24.33 128951908 129083008 + 127904034 128035462 + 129338081 129469509 + 6480464 14702039;12477932;8218172;2649653;2341393;2283726;20379614;18029348;22044751 144423 B4DHZ5;F5H088;H0Y5M0;Q96MS3 ABBA01019771;ABBA01019772;ABBA01019773;ABBA01019774;ABBA01019775;ABBA01019776;AC069262;AK056540;AK295333;AK295454;AMYH01004870;BC033953;BC043528;CH471054;NM_144669 AAH43528;BAB71209;BAG58307;BAG58388;EAW98497;EAW98498;NP_653270;Q96MS3 Hs.655668 1336935;1655298;1678253;1746217;1746731;1755821;2133211;2133213;2152500 A006D44;A006O16;D12S1659;G20733;G64701;G64748;RH45520;RH80888;SHGC-142665 FLJ31978 OTTHUMP00000238789;OTTHUMP00000238790;glycosyltransferase 1 domain-containing protein 1 protein-coding ENSG00000151948 26483 08115 PROVISIONAL 69462 GLRX3 glutaredoxin 3 This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] 10 10 q26 131824653 131867860 + 131934639 131978646 + 69393;1580863;6480464 10636891 17353931;18528843;15489334;14702039;12477932;11124703;8125298;16169070;16189514;16385451;19797004;20170406;20226171;20800603;21160409;20498481;21123948;11774602;15342556;22863883;21575136;22309771;21900206;19471022;21139048;21890473;21906983;15231748;19738201;22623428;22678362;23000965;18258855 10539 O76003 AA995117;ABBA01009126;AF118649;AF118652;AJ010841;AK022131;AK225609;AL139123;AMYH01003183;AMYH01003184;BC005289;BC014372;BI256922;BP347054;CH471066;NG_029886;NM_001199868;NM_006541 AAF28841;AAF28844;AAH05289;AAH14372;BAG51067;CAA09375;EAW49152;EAW49153;EAW49154;EAW49155;NP_001186797;NP_006532;O76003 Hs.42644 1679495;1710450;1768894;2129252;2150468;5022651 25499;D11S2921;DBEST25498;RH91792;SHGC-86234;STS-H99205 FLJ11864;GLRX4;GRX3;GRX4;PICOT;TXNL2;TXNL3;bA500G10.4 OTTHUMP00000020746;OTTHUMP00000020747;OTTHUMP00000020748;PKC-interacting cousin of thioredoxin;PKC-theta-interacting protein;PKCq-interacting protein;glutaredoxin 4;glutaredoxin-3;thioredoxin-like 2;thioredoxin-like protein 2 APPROVED protein-coding ENSG00000108010 15987 10153 612754 REVIEWED 1353062 GLT8D2 glycosyltransferase 8 domain containing 2 12 12 12 q 104046524 104107666 - 102906895 102968045 - 104382765 104443915 - 737633;1580863;6480464 12477932 15489334;14702039;12975309;8218172;2649653;2341393;2283726;22841784;20379614;17207965;21963094;23291589 83468 F8VU19;F8VZP2;Q9H1C3 ABBA01053209;AC078819;AJ271711;AK027310;AK056056;AMYH01004710;AY358763;BC022343;CH471054;NM_031302 AAH22343;AAQ89123;ADQ32211;BAB55033;BAB71085;CAC19667;EAW97730;EAW97731;NP_112592;Q9H1C3 Hs.631650 1335340;1690670;1732586 D12S800;D12S806;RH76675 FLJ31494 OTTHUMP00000242879;OTTHUMP00000242880;OTTHUMP00000242881;glycosyltransferase 8 domain-containing protein 2;gycosyltransferase protein-coding ENSG00000120820 24890 14260 PROVISIONAL 2290027 GLTPP1 glycolipid transfer protein pseudogene 1 11 11 11 p15.1 18342753 18345086 + 18167100 18167749 + 18210451 18212785 + 6480464 18261224 645312 ABBA01061060;AC090099;AMYH01003419;AY039109;NG_007407 1678187 RH27234 pseudo 33991 INFERRED 736636 GLS glutaminase This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 2 2 q32-q34 191453792 191538021 + 191745547 191830278 + 1300048;1580863;6480464;6907045 11015561;10719215;19500843;19428810;19428809;19428808;19222703;19219026;19156168;17669570;15642443;15496140;15489334;15246207;14759258;14722097;14702039;12579526;12477932;11163757;11130979;11059811;10620514;10048485;8896557;8499480;6825316;6682827;3531404;20659789;20820037;12629547;19423540;20406964;20438785;20877624;21045145;21145461;21234284;21457947;23578284;22863883;1680606;2571577;22326218;21852960;22049910;22106309;22538822;21139048;21890473;22360420;22304920;22892846;23000965;20921411;22479354;16899818;16498633 2744 B7Z509;B8ZZA8;B8ZZC5;C9JIJ6;H7BZD1;H7C201;O94925;Q68D38 AB020645;ABBA01062392;AC005540;AC067945;AC079162;AF097492;AF097493;AF097494;AF097495;AF158555;AF223943;AF279697;AF327434;AJ431620;AK001220;AK092974;AK123493;AK289747;AK294927;AK298266;AMYH01011349;AMYH01011350;BC038507;BM148085;BX641148;CH471058;CR749593;NM_001256310;NM_014905;Y08264 AAD47056;AAF00088;AAF00089;AAF00090;AAF33825;AAG17700;AAG47842;AAH38507;AAY14767;AAY24182;AAY24320;BAA74861;BAF82436;BAG50870;BAH11927;BAH12745;CAH18392;EAX10856;EAX10857;EAX10858;EAX10859;EAX10860;NP_001243239;NP_055720;O94925 Hs.116448;Hs.737608 1674523;1679780;1687065;1687538;1722235;1753255;1763213;1767797;1783862;1857389;2126003;2127728;2152170;5014039;5017266;5037552 A004H16;D22S1584;D2S1664E;D8S2279;G60023;L18506;RH47158;RH79093;RH80599;RH93798;RH94068;SHGC-101221;SHGC-110123;SHGC-146946;WI-10639;WIAF-2080 AAD20;DKFZp686D14231;DKFZp686O15119;FLJ10358;FLJ41499;GAC;GAM;GLS1;KGA;KIAA0838 K-glutaminase;L-glutamine amidohydrolase;OTTHUMP00000163554;OTTHUMP00000205852;glutaminase C;glutaminase kidney isoform, mitochondrial;glutaminase, phosphate-activated APPROVED protein-coding ENSG00000115419 4331 00700 138280 REVIEWED 1348884 GLT8D1 glycosyltransferase 8 domain containing 1 This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013] 3 3 3 p21.1 52707215 52718759 - 52703544 52715088 - 52728504 52740048 - 6480464 18029348;14702039;12975309;12477932;8218172;2649653;2341393;2283726;22461910;21139048;21926972;22763110;21963094;7829101;23453885 55830 C9J6X9;C9J880;C9JA13;C9JNB0;C9JPK4;C9JY96;H7C4V6;Q68CQ7 ABBA01024499;ABBA01024500;AC104446;AF157318;AF175227;AF176777;AJ271710;AK027517;AK075031;AK311674;AMYH01013188;AY358579;BC119670;BC119671;BF725274;BG700867;BG831844;BI495741;BI559798;CH471055;CR749821;NM_001010983;NM_001278280;NM_001278281;NM_018446;NM_152932 AAF67484;AAI19671;AAI19672;AAQ13652;AAQ13655;AAQ88942;BAB55170;BAC11363;CAC19666;CAH18681;EAW65253;EAW65254;EAW65255;EAW65256;NP_001010983;NP_001265209;NP_001265210;NP_060916;NP_690909;Q68CQ7 Hs.297304 1645021;1647842;1682271;1735258;2170809;2183955;5014484 D3S2852E;D3S2917E;RH12841;RH25508;RH47299;SGC30921;SHGC-34663 AD-017;DKFZp781O20198;FLJ14611;MSTP139 OTTHUMP00000213401;OTTHUMP00000213439;OTTHUMP00000213440;glycosyltransferase 8 domain-containing protein 1;glycosyltransferase AD-017 APPROVED protein-coding ENSG00000016864 24870 12423 REVIEWED 2289752 GLTPD1 glycolipid transfer protein domain containing 1 1 1 1 p36.33 1316866 1320999 - 1250006 1254139 + 1260143 1264276 + 6480464 12477932;19913121;20628086;16751776;21988832 80772 J3KST3;Q5TA50 ABBA01016032;AL122073;AL139287;AMYH01000130;BC004366;BC072454;BC098429;CH471183;JN542538;NM_001029885 AAH98429;AEX26944;CAB59248;EAW56230;EAW56231;NP_001025056;Q5TA50 Hs.515689 CPTP;MGC10334 OTTHUMP00000003206;ceramide-1-phosphate transfer protein;glycolipid transfer protein domain-containing protein 1 protein-coding ENSG00000224051 28116 VALIDATED 3322040 GLUD1P2 glutamate dehydrogenase 1 pseudogene 2 10 q11.2 48962451 48968666 + 2364112;8244384;8486350 100381203 AL731733;NG_016765;X66313;X66315;X66319 GLUDP2 pseudo 4337 INFERRED 1348207 GLUD1P3 glutamate dehydrogenase 1 pseudogene 3 10 10 10 q22.2 68774257 68780395 + 75160840 75167175 + 75491299 75495367 + 8486350;8244384;15899389 2749 ABBA01020312;ABBA01020313;AC022400;AMYH01002828;AMYH01002829;AY661565;NR_048575;X66316;X66317;X66318 Hs.676111;Hs.737939 C10orf102;Em:AC022400.11;GLUDP3;RP11-574K11.12 APPROVED pseudo 4338 VALIDATED 1346498 GLUD1P4 glutamate dehydrogenase 1 pseudogene 4 18 18 18 q21.32 54163813 54165901 + 55596630 55598918 + 57445751 57447839 + 8486350;3368458 2750 ABBA01056171;AC098847;AMYH01009040;NG_005046;X66314 GLUDP4 APPROVED pseudo 4339 INFERRED 1604453 GLTPD2 glycolipid transfer protein domain containing 2 17 17 17 p13.2 4707456 4708887 + 4638994 4640425 + 4692254 4693884 + 6480464 12477932;22916037 388323 A6NH11 ABBA01054775;AC109333;AC233723;AMYH01008042;BC029290;BC150536;CD365791;CH471108;NM_001014985 A6NH11;AAI50537;EAW90408;NP_001014985 Hs.131035 glycolipid transfer protein domain-containing protein 2 protein-coding ENSG00000182327 33756 18609 VALIDATED 1343185 GLUD1P6 glutamate dehydrogenase 1 pseudogene 6 10 q11.22 46772794 46778894 + 414209 AL603982;AMYH01002576;NG_032186 GLUDP6;bK2173J9.1 APPROVED pseudo 23610 INFERRED 1314970 GLTSCR1 glioma tumor suppressor candidate region gene 1 19 19 19 q13.3 44917158 45012242 + 52874031 52898291 + 48111453 48206534 + 6480464 15834925;12477932;12117772;10708517;20936779;17474147;20150366;20379614;22174851;21555454;22505724 29998 M0QYC3;Q9NZM4 AA961479;AA994408;ABBA01041049;ABBA01041050;ABBA01041051;ABBA01041052;ABBA01041053;ABBA01041054;AC008985;AC010331;AC010519;AC104531;AF182077;AMYH01009885;AMYH01009886;AMYH01009887;BC032065;BX362862;CH471126;NM_015711 AAF62874;AAI56273;EAW57503;EAW57504;NP_056526;Q9NZM4 Hs.97244 1666005;1723521;2107161;2112990;2146240;5094914 D19S1057;D19S1160;GLTSCR1;GLTSCR1__6813;RH118578;RH48458 glioma tumor suppressor candidate region gene 1 protein protein-coding ENSG00000063169 4332 09296 605690 PROVISIONAL 1350734 GLUD1P8 glutamate dehydrogenase 1 pseudogene 8 10 q11.22 47253595 47259683 + 414213 ABBA01156967;AL391137;NG_032188 GLUDP8;bA144G6.5 APPROVED pseudo 23637 INFERRED 1313851 GLTSCR1L GLTSCR1-like 6 6 6 p21.1 44341061 44388560 + 42896772 42944274 + 42788794 42836296 + 6480464 9039502;14702039;14574404;12477932;12421765;20936779;17043677;19322201 23506 Q6AI39 ABBA01050709;ABBA01050710;ABBA01050711;ABBA01050712;ABBA01050713;ABBA01050714;ABBA01050715;AK091434;AK093526;AK128771;AK294706;AL035587;AL353716;AL833540;AMYH01016308;AMYH01016309;BC015724;BC033963;BC047630;BC130302;CH471081;CR627378;D87077;NM_015349 AAI30303;BAA13246;BAH11853;CAH10475;EAX04102;NP_056164;Q6AI39 Hs.658033 1662650;1694252;1847214;5015861;5024039;5037552;7185938 AL035174;D10S16;D16S325;D8S2279;RH25442;RH46620 DKFZp686P0250;KIAA0240 GLTSCR1-like protein;OTTHUMP00000016407;glioma tumor suppressor candidate region gene 1 protein-like;hypothetical protein LOC23506;uncharacterized protein KIAA0240 APPROVED protein-coding ENSG00000112624 21111 17180 VALIDATED 1345817 GLUD1P7 glutamate dehydrogenase 1 pseudogene 7 10 q11.22 46764668 46768346 + 15146197;16344560 414212 ABBA01013319;AL603982;CN414942;DB144814;NR_048574 Hs.741415 5113244;5120245;5123996 GDB:217914;RH15704;RH40147 GLUDP7;bA342C24.3 APPROVED pseudo ENSG00000227194 23636 VALIDATED 2837562 GLUD1P9 glutamate dehydrogenase 1 pseudogene 9 X X X q23 110952851 110954174 - 110359891 110361214 - 110473235 110474558 - 100131281 ABBA01043324;AL031117;AMYH01022840;NG_016578 1703784 SHGC-79105 pseudo 37696 INFERRED 1353618 GLUD1P5 glutamate dehydrogenase 1 pseudogene 5 10 p11.2 31906539 31907129 + 15489334;15164054;12653548;12054821;11903050;11297618;11254391;11214910;10636977;10338089;9571255;8486350;8401522;8314555;3585334;3426581;3399399;3377777;3368458;1286669;429360 2751 ABBA01033398;AL161935;AMYH01002222;NG_001129;X67491;X69219 CAA47830 1742787;1782206 GDB:209150;SHGC-172071 GLUDP5 APPROVED pseudo 4340 INFERRED 1350062 GLULP2 glutamate-ammonia ligase (glutamine synthetase) pseudogene 2 11 11 p15.4 10099561 10102890 - 9978132 9981461 - 8921392 2754 ABBA01061162;AC011092;AMYH01003388;NG_009859 GLULL2 APPROVED pseudo 4343 INFERRED 1349044 GLULP1 glutamate-ammonia ligase (glutamine synthetase) pseudogene 1 5 5 5 q33 147309761 147311892 + 151208461 151210765 + 151228368 151230472 + 8921392 2753 ABBA01026259;AC091982;AMYH01015713;NG_003030;NG_011764 GLULL1 glutamate-ammonia ligase (glutamine synthase)-like 1 APPROVED pseudo 4342 INFERRED 1345808 GLULP4 glutamate-ammonia ligase (glutamine synthetase) pseudogene 4 9 9 9 p13.3 34848728 34849843 + 34907072 34908387 + 34917173 34918288 + 8921392 392305 ABBA01065003;AL355377;AMYH01019341;NG_005208 1687231 RH70547 GLULP APPROVED pseudo 4345 INFERRED 1602720 GLTP glycolipid transfer protein The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008] 12 12 q24.11 108773131 108802676 - 110288748 110318293 - 6480464 15287756;15901739;19270338;18657186;18261224;17980653;17320476;17105344;16169991;15504043;15489334;15329726;12477932;10671554;10653652;8889548;2190982;19322201;20694148;20959104;17207965;19665998;20974858;21625605;21139048;21890473;22053931 51228 F5GZ49;F5H0U5;H0YFS9;Q9NZD2 ABBA01005081;AC007834;AF209704;AK313457;AMYH01004738;AY372530;AY372531;AY372532;BC009932;BQ227117;CA310913;CH471054;JN039379;JN052207;NM_016433 AAF33210;AAH09932;AAR85984;AAR85985;AAR87373;ADQ31615;AEM05862;AEN02916;BAG36244;EAW97880;EAW97881;EAW97882;NP_057517;Q9NZD2 Hs.381256 1664940;1675997;1678187;2109355 GLTP__6812;RH27234;RH68195;RH78111 OTTHUMP00000240666;OTTHUMP00000240667;OTTHUMP00000240668;glycolipid transfer protein;truncated glycolipid transfer protein APPROVED protein-coding ENSG00000139433 24867 16409 608949 REVIEWED 2859014 GLULP5 glutamate-ammonia ligase (glutamine synthetase) pseudogene 5 12 12 114169886 114170874 + 114542739 114543727 + 100421694 ABBA01019969;AC010183;AMYH01004767;NG_021735 pseudo 37989 INFERRED 1343638 GLULP3 glutamate-ammonia ligase (glutamine synthetase) pseudogene 3 11 11 11 q24.1 119643450 119644570 - 121989362 121990482 - 122484151 122485271 - 8921392 401708 ABBA01031287;AMYH01004094;AP002469;NG_007180 GLULL3 APPROVED pseudo 4344 INFERRED 3379550 GLULP6 glutamate-ammonia ligase (glutamine synthetase) pseudogene 6 2 2 2 q32.3 188581032 188582001 - 194676579 194703235 - 194994021 194994990 - 343981 ABBA01062426;AC068129;AC068135;AC093389;AMYH01011371;NG_021543 1758691 SHGC-149180 pseudo 37990 INFERRED 3362199 GLYATL1P1 glycine-N-acyltransferase-like 1 pseudogene 1 11 11 11 q12.1 56105405 56120262 + 58502880 58517737 + 58746304 58761161 + 100129032 ABBA01021494;ABBA01021495;AP001636;NG_022951 pseudo 37866 INFERRED 3160486 GLYATL1P2 glycine-N-acyltransferase-like 1 pseudogene 2 11 11 11 q12.1 56011494 56020008 + 58391033 58429895 + 58652420 58660933 + 100129933 ABBA01021494;AP001652;NG_022993 1762955 SHGC-146705 pseudo 37863 INFERRED 4144680 GLYATL1P3 glycine-N-acyltransferase-like 1 pseudogene 3 11 11 q12.1 56212597 56233508 + 58852432 58863310 + 100287520 ABBA01021495;AMYH01003661;AP001258;NG_028990 glycine-N-acyltransferase-like 1 pseudogene 3 pseudo 37865 INFERRED 4144623 GLYATL1P4 glycine-N-acyltransferase-like 1 pseudogene 4 11 11 11 q12.1 56125548 56189771 + 58523023 58587247 + 58808533 58819488 + 643637 ABBA01021495;AMYH01003661;AP001258;AP001636;CH471076;NG_028295 EAW73832 1671510;1713241;1713243;2169715 RH120610;RH120611;RH44591;SHGC-34923 glycine-N-acyltransferase-like 1 pseudogene 4;hCG1729961-like pseudo 37864 INFERRED 1353107 GLTSCR2 glioma tumor suppressor candidate region gene 2 19 19 q13.3 52940620 52952127 + 48248793 48260323 + 1580863;6480464 10196275;18729076;17890897;17657248;16971513;15635413;15489334;15355975;14702039;12477932;12429849;11790298;10708517;8125298;16169070;21145461;19596235;19615732;20042497;18029348;20185249;21167305;22522597;22939629;21804542;21741933;21139048;21903422;21906983;22321011;22292050;22586326;22850112 29997 M0QX73;M0QYZ9;M0QZ34;M0QZU5;Q9NZM5 ABBA01041055;ABBA01041056;AC008745;AF161389;AF182076;AF296124;AI540063;AK024486;AK225915;AK297877;AK301117;AK303918;AK309788;AL122063;AL359335;AL359336;AMYH01009888;AMYH01009889;AY535000;BC004229;BC006311;BC007248;BC010095;BC013203;BC013235;BC013307;BC014009;BC039869;CH471126;CX866974;NM_015710 AAF28949;AAF62873;AAG30413;AAH04229;AAH06311;AAH07248;AAH10095;AAH14009;AAS46028;ABM83650;ABM86899;BAB15776;BAG60201;BAG62713;BAG64846;CAB59242;CAB94786;CAB94787;EAW57508;EAW57509;EAW57510;NP_056525;Q9NZM5 Hs.421907 1682708;2159994;5015961;5022322;5024756 D11S2560;D15S1477;RH65606;RH80030;RH91488 PICT-1;PICT1 glioma tumor suppressor candidate region gene 2 protein;p60;protein interacting with carboxyl terminus 1 protein-coding ENSG00000105373 4333 16142 605691 VALIDATED 1353928 GLYB glycine B complementing 2757 4363 138480 1348263 GLYATL3 glycine-N-acyltransferase-like 3 6 6 6 p12.3 51023868 51051973 + 49467671 49495777 + 49467671 49495777 + 16344560;14702039;20171287;20379614;19156129 389396 F5GXQ5;Q5SZD4 ABBA01050590;ABBA01050591;AL590244;AMYH01016339;AW591696;CH471081;DB246049;NM_001010904 EAX04334;NP_001010904;Q5SZD4 Hs.585172 C6orf140;FLJ44407;bA28H17.2 OTTHUMP00000016587;OTTHUMP00000238516;glycine N-acyltransferase-like protein 3 APPROVED protein-coding 21349 614763 VALIDATED 1352274 GLUD2 glutamate dehydrogenase 2 The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010] X X q24-q25 120009143 120011477 + 120181462 120183796 + 1580863;6480464;6907045 12742085;11032875;8207021;15578726;18688271;19448744;19428807;19393024;19156168;17924438;15952740;15772651;15750346;15489334;15378063;15044002;12477932;12054821;11999891;11950837;9674910;9109504;8486350;8288265;2365355;16169070;19826450;20194501;22658952;22709669;22360420;21906983;21420458;21621574;18029348 2747 P49448;Q9BSD0 ABBA01036087;AC006144;AK313356;AMYH01022925;BC005111;BC050732;NG_016456;NM_012084;U08997;X66310 AAA20969;AAD05030;AAH05111;AAH50732;BAG36157;CAA46995;NP_036216;P49448 Hs.368538 1664887;1666140;1669660;1694858;1702082;1743163;1795928;2115551;5095267;5113140;5120057;5124473 D10S2137;DXS7028E;G44300;GDB:193864;GDB:277890;GLUD1-1;GLUD1_1725;L47793;L77323;RH65005;RH79929;RH80866 GDH2;GLUDP1 GDH 2;OTTHUMP00000023966;glutamate dehydrogenase 2, mitochondrial;glutamate dehydrogenase pseudogene 1 APPROVED protein-coding ENSG00000182890 4336 02143 300144 REVIEWED 733213 GLUD1 glutamate dehydrogenase 1 This gene encodes glutamate dehydrogenase protein; a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid induced insulin secretion and activating mutations in this gene are a common cause of congenital hyperinsulinism. This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Multiple pseudogenes of this gene are present in humans.[provided by RefSeq, Sep 2009] 10 10 q23.3 88800223 88844603 - 88809959 88854776 - 1300048;1580863;1302513;1601353;6480464;6484554;6484590;6484656;6484655;6484555;6484556;6484593;6484657;6484588;6484589;6907045;7240710 9571255;10636977;18381650;10975907;20670938;7808037;16341942;16298240;10431747;9145307;15016427;11240587 12742085;12193607;429360;15578726;11903050;11032875;11502802;18688271;19500843;19448744;19156168;19046187;19046183;18321734;16492972;16151898;15750346;15609325;15489334;15378063;15273247;15164054;15044002;14760703;14702039;12653548;12477932;12324473;12054821;12022886;11950837;11872671;11840195;11297618;11254391;11214910;10338089;8486350;8314555;8244384;8125298;6121377;3997814;3585334;3426581;3399399;3377777;3368458;2757358;1286669;19322201;21145461;20659789;16385451;16959573;19690084;19826036;19890003;20164212;20201926;20381070;20877624;20197649;20736409;20931523;22658952;22924626;20186120;15852347;18457437;18781797;21081666;21901531;22106762;22118674;21813650;19738201;21963094;21988832;21139048;21890473;21906983;22360420;21130127;21397652;21621574;20301549 2746 B3KV55;B4DGN5;E9KL48;P00367 AB209406;ABBA01033690;ABBA01033691;ABBA01033692;ABBA01033693;AF086070;AK094782;AK122685;AK222818;AK294685;AK297441;AK297456;AK303458;AK311722;AL136982;AMYH01002903;BC040132;BC112946;CH471142;DB460681;GU727646;HH961834;J03248;M17697;M20867;M37154;NG_013010;NM_005271;S60498;X07674;X07769;X66300;X66312 AAA52523;AAA52524;AAA52525;AAA52526;AAH40132;AAI12947;ADU87647;BAD92643;BAD96538;BAG52930;BAG53667;BAG57846;BAG59867;BAG59880;BAG64501;CAA30521;CAA30598;CAA46994;CAA46996;CBX51390;EAW80300;EAW80301;EAW80302;EAW80303;EAW80304;NP_005262;P00367 Hs.500409 1664887;1666140;1669660;1670324;1702082;1743163;1776839;1795928;1853162;2141755;2160913;5095267;5113140;5120057;5124473 D10S2137;DXS7028E;GDB:193864;GDB:277890;GLUD1-1;GLUD1_1725;L47793;RH46040;RH65005;RH65934;RH79929;RH80866;SHGC-37613;SHGC-56862;STS-N57779 GDH;GDH1;GLUD;MGC132003 GDH 1;OTTHUMP00000020018;glutamate dehydrogenase (NAD(P)+);glutamate dehydrogenase 1, mitochondrial APPROVED protein-coding ENSG00000148672 4335 11748 138130;606762 REVIEWED 1602601 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) 12 12 12 q13.2 54653844 54656119 - 53288238 53290513 - 55001971 55004246 - 6480464 12588680;12057858 644076 Q8IVK1 ABBA01008377;AC079310;AJ489589;AJ489590;AJ489591;AJ489592;AJ489593;AMYH01004489;NR_003039 CAD34030;CAD34031;CAD34032;CAD34033;CAD34034;Q8IVK1 Hs.483519 1711176;1723531 RH118583;SHGC-85332 glycosylation dependent cell adhesion molecule 1 pseudo ENSG00000257780 18023 VALIDATED 6481312 GLYCTK-AS1 GLYCTK antisense RNA 1 100874110 AC092045 APPROVED miscrna 41043 1345588 GLYD glycerate-2-dehydrogenase 2758 4364 1316190 GLYAT glycine-N-acyltransferase The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q12.1 58232806 58256023 - 58476230 58499447 - 6480464 9202629;7802672;15489334;15342556;13174534;12477932;10630424;8660675;7833837;931988;16169070;19252341;16712791;20877624;20925583;23237781;22475485;23108985 10249 K7ES21;Q6IB77 AB013093;AB665285;ABBA01021492;AF023466;AI253073;AI793012;AI793201;AMYH01003661;AP000445;AW024233;BC009785;BG401676;BG617408;BP277146;CB161978;CH471076;CR456927;DR004166;NM_005838;NM_201648 AAB81453;AAH09785;ABM83638;ABM86890;BAL43174;CAG33208;EAW73822;EAW73823;EAW73824;NP_005829;NP_964011;Q6IB77 Hs.145384 1298333;1730449;1768311;1776785 D11S1912;D11S1985;D11S956;STS-W87532 ACGNAT;CAT;GAT AAc;HRP-1(CLP);OTTHUMP00000235930;OTTHUMP00000235931;OTTHUMP00000235932;acyl-CoA:glycine N-acyltransferase;aralkyl acyl-CoA N-acyltransferase;aralkyl acyl-CoA:amino acid N-acyltransferase;aralkyl-CoA N-acyltransferase;benzoyl-coenzyme A:glycine N-acyltransferase;glycine N-acyltransferase;glycine N-benzoyltransferase APPROVED protein-coding ENSG00000149124 13734 07603 607424 VALIDATED 1354017 GLYS1 glycosuria 1, renal 7240710 6524599 2759 4365 233100 1342990 GM2AP1 GM2 ganglioside activator pseudogene 1 3 3 3 q24 143823826 143827834 + 146884966 146887088 + 145402276 145406285 + 16478472;16216074;1427911 2761 AB051291;ABBA01058991;AC069435;AMYH01013562;L01440;NG_001130 1776325;2127771;5017933 D3S3426;Gm2a;SHGC-6123 GM2AP APPROVED pseudo 4368 INFERRED 3028790 GM2AP2 GM2 ganglioside activator pseudogene 2 1 1 q24.3 144470733 144471276 + 171361387 171361930 + 100287900 ABBA01027931;AL049762;AMYH01001494;NG_022818 1858530 RH48609 pseudo 38002 INFERRED 1603595 GLYATL1 glycine-N-acyltransferase-like 1 11 11 11 q12.1 56069816 56083617 + 58467298 58481092 + 58695102 58724543 + 6480464 15489334;14702039;12477932;17207965;22475485 92292 A9ZM15;B4DU33;E9PJV1;E9PK55;E9PNJ8;E9PP95;E9PP99;E9PR27;Q969I3 AB207212;ABBA01021494;AF087878;AK055818;AK091965;AK130017;AK300479;AMYH01003661;AP001636;AP001652;AW194883;BC008353;BC013929;CH471076;DQ084381;NM_001220494;NM_001220496;NM_080661 AAH08353;AAP97178;AAZ31239;ADQ32633;BAB71023;BAC03779;BAF96748;BAG62195;EAW73828;EAW73829;EAW73830;NP_001207423;NP_001207425;NP_542392;Q969I3 Hs.38085;Hs.616909 2155106;2170255;2174822 G17610;SHGC-34857;WI-11546 FLJ26507;FLJ34646;GATF-C;GNAT;MGC15397;MGC15937 OTTHUMP00000235506;OTTHUMP00000235510;acyl-CoA:glycine N-acyltransferase-like protein 1;glutamine N-acyltransferase;glycine N-acyltransferase-like protein 1 protein-coding ENSG00000166840 30519 14447 614761 VALIDATED 1606424 GLYATL2 glycine-N-acyltransferase-like 2 11 11 11 q12.1 55960624 55971093 - 58358114 58368573 - 58601538 58611997 - 22408254;15489334;12477932;20305126;17207965;22475485 219970 A5LGC7;Q8WU03 AB207211;ABBA01021494;AF426250;AMYH01003661;AP001652;AW264415;BC016789;BC021682;CH471076;NM_145016 AAH16789;AAH21682;AAO73139;ADQ31722;BAF63415;EAW73826;EAW73827;NP_659453;Q8WU03 Hs.254271 BXMAS2-10;GATF-B;MGC24009 OTTHUMP00000235933;OTTHUMP00000235934;acyl-CoA:glycine N-acyltransferase-like protein 2;glycine N-acyltransferase-like protein 2;glycine acyltransferase family-B protein-coding ENSG00000156689 24178 16568 614762 VALIDATED 5490500 GMCL1P2 germ cell-less, spermatogenesis associated 1 pseudogene 2 2 108983572 108984396 + 100420975 ABBA01000754;AC068941;AMYH01010853;NG_023717 APPROVED pseudo 42863 INFERRED 1604750 GLYCTK glycerate kinase This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009] 3 3 3 p21.1 52301159 52308595 + 52296912 52302532 + 52321836 52329272 + 6480464;6907045 16753811;18029348;16344560;16189514;12477932;8889549;2551543;2537226;19060904;20800603;20949620;21926972 132158 C9J3N5;C9JA32;Q8IVS8 AA100208;ABBA01024509;AC092045;AF448855;AF529373;AI380271;AK074215;AMYH01013183;AY134474;AY172690;AY295075;BC021896;BC036862;BC042151;BM555864;CH471055;DA586797;DQ352863;NG_023246;NM_001144951;NM_145262;NR_026699;NR_026700;NR_026701;NR_026702 AAH21896;AAH36862;AAH42151;AAM95456;AAO17719;AAP41923;AAP51132;AAQ09607;ABD22985;ABZ92208;BAB85018;EAW65205;EAW65206;EAW65207;EAW65208;EAW65209;EAW65210;EAW65211;EAW65212;NP_001138423;NP_660305;Q8IVS8 Hs.415312 1666439;2125631 RH78133;WI-17518 HBEBP2;HBEBP4;HBeAgBP4A CG9886-like;HBeAg binding protein 4;HBeAg-binding protein 2;HBeAg-binding protein 4;OTTHUMP00000212858;OTTHUMP00000212859;glycerate kinase APPROVED protein-coding ENSG00000168237 24247 13586 220120;610516 REVIEWED 730955 GLUL glutamate-ammonia ligase The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia. Glutamine is a main source of energy and is involved in cell proliferation, inhibition of apoptosis, and cell signaling. This gene is expressed during early fetal stages, and plays an important role in controlling body pH by removing ammonia from circulation. Mutations in this gene are associated with congenital glutamine deficiency. Several alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 q31 180618292 180627573 - 182350839 182361341 - 1300048;1580863;2301427;2301429;2301554;2301479;2301553;2301547;2301548;2301556;2301555;6480464;6907045;7240710 12160938;1361232;18669513;15481771;4405000;28323;4403443;18562176;14723991 20471030;19447967;18029348;19500843;19231003;19204801;19183851;19156168;19125103;18662667;18555765;18192886;18005987;17627080;17197094;16710414;16609938;16537434;16267323;16189514;16095760;15642443;15489334;15231748;14760703;14702039;12477932;10681395;10520940;9263280;9260745;9107685;8975719;8921392;7923146;7909780;2888076;2856920;1681907;20233882;20525558;20936779;16344560;8889548;22863883;20536387;16196087;15604093;21682567;18062818;21175585;22053931;22505724;22797925;21139048;21890473;21906983;21963094;21987572;19748344;21988832;23000965;18624398;21597934;22542401;22930410;22777743 2752 A8YXX4;P15104 ABBA01027765;AK092874;AK122784;AK301600;AL139344;AL161952;AMYH01001547;AY486122;AY486123;AY513283;AY947343;BC010037;BC011700;BC011852;BC018992;BC031964;BC051726;BC127883;BG771732;BM662182;BX537384;CD688156;CH471067;DA151535;DA456371;JA462412;NG_013347;NM_001033044;NM_001033056;NM_002065;S70290;X59834;Y00387 AAB30693;AAH10037;AAH11700;AAH11852;AAH18992;AAH31964;AAH51726;AAI27884;AAS57904;AAS57905;AAT08036;AAY57874;ABM84204;ABM87608;ACE87067;ACE87749;BAG52617;BAG53728;BAG63088;CAA42495;CAA68457;CAB82304;CAD97626;CCD35254;EAW91116;EAW91117;EAW91118;EAW91119;EAW91120;EAW91121;EAW91122;NP_001028216;NP_001028228;NP_002056;P15104 Hs.518525 1667191;1673906;1686262;1687231;1736046;1736656;2137413;2156264;5022578;7185260;7187863 Cda0jg12;D1S1423;D1S2009E;D1S2075E;D1S2414;D1S290E;RH70547;SGC30288;SHGC-75989 GLNS;GS;PIG43;PIG59 OTTHUMP00000035524;OTTHUMP00000035525;cell proliferation-inducing protein 59;glutamate decarboxylase;glutamate--ammonia ligase;glutamate-ammonia ligase (glutamine synthase);glutamine synthase;glutamine synthetase;proliferation-inducing protein 43 APPROVED protein-coding ENSG00000135821 4341 00701 138290;610015 REVIEWED 1606767 GLYR1 glyoxylate reductase 1 homolog (Arabidopsis) 16 16 16 p13.3 5061974 5106076 - 4793205 4837285 - 4853204 4897303 - 6480464 16352664;15851553;12477932;22586326;21182205;22939629;21987572;19471022;21139048;21693764;21890473;21906983;21963094;19322201;22505724 84656 K7EK70;K7ELL0;K7EMM8;K7EPU6;K7EQB2;Q9BXK2 ABBA01026787;ABBA01026788;AC020663;AF217521;AF244907;AF326966;AK296842;AK307834;AMYH01007108;AY352585;BC003693;BC022809;BC032855;BC047223;BC048291;BC063039;BC064940;BC073868;CB529066;CH471112;CK430984;CR933687;DB492328;NM_032569 AAF67632;AAH03693;AAH32855;AAH47223;AAH64940;AAK15524;AAQ14242;AAQ57265;BAG59409;EAW85251;EAW85252;EAW85253;EAW85254;EAW85255;EAW85256;EAW85257;NP_115958;Q49A26 Hs.387255;Hs.731580 1648676;1655154;1680673;1682403;2191311;5127548 D20S544E;MARC_17251-17252:1024677488:1;RH44934;RH70097;SHGC-37555;SHGC-61126 BM045;HIBDL;N-PAC;NP60 3-hydroxyisobutyrate dehydrogenase-like protein;OTTHUMP00000159924;cytokine-like nuclear factor n-pac;nuclear protein 60 kDa;nuclear protein 60kDa;nuclear protein NP60;nuclear protein of 60 kDa;putative oxidoreductase GLYR1 APPROVED protein-coding ENSG00000140632 24434 17625 610660 VALIDATED 1605348 GMCL1P1 germ cell-less, spermatogenesis associated 1 pseudogene 1 This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 173238486 173241408 - 177544117 177547039 - 177611511 177614433 - 18614560;16189514;16201836;16094384;15489334;12477932 64396 Q8NEA9;Q9HBV8 ABBA01009989;AC136632;AF198534;AK315701;AMYH01015938;BC024184;BC024185;BC033886;CH471165;DQ120624;NR_003281 AAG28529;ABB92410;ABM81793;ABM84949;ABM84951;BAG38063;EAW53846;Q8NEA9 Hs.591738 GCL;GMCL1L;GMCL2 APPROVED pseudo 19717 17044 PROVISIONAL 1343495 GMFA glia maturation factor, alpha 2763 4372 1605349 GMCL1 germ cell-less, spermatogenesis associated 1 This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 69907998 69957903 + 69910322 69960231 + 70056818 70106727 + 6480464 15489334;14702039;12954656;12927808;12493765;12477932;11591818;21145461;19322201;9878064;23029259 64395 Q53SE7;Q96IK5 ABBA01075514;ABBA01075515;AC019206;AK023119;AK023261;AK024042;AMYH01010423;BC007420;CH471053;NM_178439 AAH07420;AAY14865;ACE87054;ACE87736;BAB14416;BAB14494;BAB14796;EAW99842;NP_848526;Q96IK5 Hs.293971 1689019;1708090;1725281;1853141;2131401;2174796;2179830 D2S1355;D2S2904;RH118924;RH47521;RH94326;SHGC-32890;SHGC-81443 BTBD13;GCL;GCL1;SPATA29 OTTHUMP00000160045;germ cell-less homolog 1;germ cell-less protein-like 1;spermatogenesis associated 29 APPROVED protein-coding 23843 13587 PROVISIONAL 4109593 GMFBP1 glia maturation factor, beta pseudogene 1 3 3 q12.2 98775165 98775591 - 100383894 100384320 - 100499251 ABBA01061788;AC069223;AMYH01013358;NG_023431 pseudo 38654 INFERRED 1353976 GM2A GM2 ganglioside activator This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 5 5 q33.1 150612837 150629000 + 150632613 150649955 + 1598993;1580863;6480464;7240710 10364519 21331553;17215249;16341674;15489334;15485660;14728689;12909021;12576516;12477932;11672434;11508694;11090283;10987359;10752311;9568910;9217013;9204879;8900233;8503891;8288250;8244332;6848657;6724528;3935131;2753159;2209618;2059210;1915858;1915857;1554364;1427911;115863;18029348;21036149;20379614;21784073;23568457;21139048;19322201 2760 E5RJD0;H0YBY3;P17900 ABBA01026263;AC008385;AF124717;AF173832;AK298867;AK312494;AMYH01015711;BC009273;BM834780;BX473154;CH471062;L01439;M76477;NG_009059;NM_000405;NM_001167607;X16087;X61094;X61095;X62078 AAA35907;AAA52767;AAD25741;AAF63788;AAH09273;ABM82840;ABM86024;BAG35396;BAG60987;CAA34215;CAA43407;CAA43408;CAA43993;CAA43994;EAW61680;EAW61681;NP_000396;NP_001161079;P17900 Hs.483873 1776325;1795930;2147228;2152362;2152422;5037552;5120063 D3S3426;D5S2404;D8S2279;GDB:194298;GM2A_1758;RH77939;WI-10510 GM2-AP;SAP-3 GM2-AP;OTTHUMP00000160619;cerebroside sulfate activator protein;ganglioside GM2 activator;shingolipid activator protein 3;sphingolipid activator protein 3 APPROVED protein-coding ENSG00000196743 4367 02034 272750;613109 REVIEWED 7248267 GMDS-AS1 GMDS antisense RNA 1 (head to head) 12477932;15146197 100508120 ABBA01048632;ABBA01048633;ABBA01048634;ABBA01048635;AL031768;AL158139;AL591120;AMYH01016021;BX342557;CA413374;CN395927;CR739457;CR933638;NR_046229 Hs.188825 miscrna 48993 VALIDATED 1322234 GMDS GDP-mannose 4,6-dehydratase GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009] 6 6 6 p25 2852269 3473926 - 1569040 2190845 - 1624035 2245868 - 1580863;6480464;6907045 11698403;9525924;19361506;19027726;16189514;15489334;14702039;14574404;12477932;11831876;9603974;22645305;21502949;20237496;20379614;22863883;22939629;8889548;21139048;21906983;22027835;22020760;21963094;23251661 2762 O60547 ABBA01048636;ABBA01048637;ABBA01048638;ABBA01048639;ABBA01048640;ABBA01048641;ABBA01048642;ABBA01048643;AF040260;AF042377;AI761361;AK057484;AK130651;AK313953;AL033517;AL034344;AL035693;AL137179;AL158139;AL354670;AL451141;AL561275;AL591048;AMYH01016019;AMYH01016020;AMYH01016021;BC000117;BM665440;BQ923510;CH471087;CR541929;CR541947;GM744695;NM_001253846;NM_001500 AAC13553;AAC24501;AAH00117;ABM83715;ABM87035;BAG36670;CAG46727;CAG46745;CAV31710;EAW55075;NP_001240775;NP_001491;O60547 Hs.144496;Hs.660919 1674033;1688730;1694976;1694978;1705858;1719591;1721387;1721405;1730010;1731124;1750097;1763183;1764875;1850526;1853751;2129317;2142167;2167912;2179426;2180823;2183136 A008Q21;AL035375;AL035377;D6S2072;D6S244;D6S356;G59554;G59695;RH123699;RH37472;RH46514;RH46822;RH65641;RH94049;SHGC-112337;SHGC-146912;SHGC-148438;SHGC-53095;SHGC-81190;WI-16749;WI-17181 GMD;SDR3E1 GDP-D-mannose dehydratase;GDP-mannose 4,6 dehydratase;OTTHUMP00000017756;OTTHUMP00000232770;short chain dehydrogenase/reductase family 3E, member 1 APPROVED protein-coding ENSG00000112699 4369 11925 602884 VALIDATED 5455041 GMNC geminin coiled-coil domain containing 3 3 q28 192055778 192063645 - 190570526 190580465 - 16641997;20383140;20855966 647309 A6NCL1;G5E9I9 ABBA01058322;AC092952;AMYH01013758;BC031680;CR749823;NM_001146686 A6NCL1;NP_001140158 Hs.518490 DKFZp434B153;DKFZp781J1746;GEMC1 OTTHUMP00000209355;geminin coiled-coil domain-containing protein 1 protein-coding ENSG00000205835 40049 614448 VALIDATED 735553 GMFB glia maturation factor, beta 14 14 q22.2 54010959 54025494 - 54941209 54955744 - 6480464 8798479;8639570;7598724;1712830;18029348;19086053;16115230;15592455;12477932;9545571;9030586;18171522;20547056;21139048;21890473;21906983;19322201;21835226;21963094;23000965;23259602;22505724;22035352 2764 G3V3X4;G3V4P8;P60983 AB001106;AB209240;ABBA01018195;AI342496;AK311753;AL359792;AMYH01005742;BC005359;BG622077;BI547506;BT006784;BX647679;CH471061;CR542113;M86492;NM_004124 AAA58614;AAH05359;AAP35430;BAA19232;BAD92477;BAG34696;CAG46910;EAW80638;EAW80639;NP_004115;P60983 Hs.151413 2123362;2175562;5106716 D14S1327;RH70723;STS-M86492 GMF GMF-beta;OTTHUMP00000179001;OTTHUMP00000244854;glia maturation factor beta protein-coding ENSG00000197045 4373 601713 VALIDATED 1603227 GMEB1 glucocorticoid modulatory element binding protein 1 This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Two alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2011] 1 1 p35.3 28867831 28913985 + 28995240 29042115 + 6480464 10386584;18455874;16964243;16497673;15555560;15489334;15231748;14702039;12702733;12477932;11927605;11812797;11743720;10894151;10734202;10692587;10523663;18222470;16344560;18029348;21252943;19471022;21139048;21693764 10691 B1AT46;B1AT47;B2RCN8;Q9Y692 ABBA01035054;ABBA01035055;ABBA01035056;ABBA01035057;ABBA01035058;AF099013;AF173868;AF203694;AK000892;AK023126;AK315195;AK315436;AL645729;AMYH01000434;AMYH01000435;AMYH01000436;BC001473;CH471059;DA647317;DA919003;NG_028983;NM_006582;NM_024482 AAD39355;AAD51352;AAG01189;AAH01473;ABZ92483;BAA91410;BAG37635;BAG37824;EAX07676;EAX07677;EAX07678;EAX07679;NP_006573;NP_077808;Q9Y692 Hs.632373 1664851;1739211;2120456;2217368 D1S2292;D1S3268;GMEB1_3774;SHGC-74511 P96PIF;PIF96 DNA-binding protein p96PIF;GMEB-1;OTTHUMP00000003779;OTTHUMP00000003780;OTTHUMP00000003781;OTTHUMP00000035905;PIF p96;glucocorticoid modulatory element-binding protein 1;parvovirus initiation factor p96 APPROVED protein-coding 4370 16059 604409 REVIEWED 736932 GMEB2 glucocorticoid modulatory element binding protein 2 This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 58899645 58938975 - 61689399 61721673 - 62218955 62258381 - 1580863;6480464 10523663;16713569;15489334;12477932;11812797;11780052;11743720;10894151;10574462;18029348 26205 Q5JTV1;Q9UKD1 AB033095;ABBA01021404;ABBA01021405;ABBA01021406;ABBA01021407;AF173867;AK298927;AL117510;AL121907;AL133646;AL353715;AMYH01012083;AMYH01012084;BC036305;BQ954281;CH471077;DB474085;NM_012384 AAD51351;AAH36305;ABZ92228;BAA86583;BAG61032;CAB63765;CAH56403;EAW75252;EAW75253;EAW75254;NP_036516;Q9UKD1 Hs.473286 1679656;1683849;1739215;2147880;2217370 D8S1557;G19672;GMEB2_3809;RH10481;RH16476 KIAA1269;P79PIF;PIF79 DNA-binding protein p79PIF;GMEB-2;OTTHUMP00000031573;OTTHUMP00000031574;OTTHUMP00000031575;PIF p79;glucocorticoid modulatory element-binding protein 2;parvovirus initiation factor p79;parvovirus initiation factor, p79 APPROVED protein-coding ENSG00000101216 4371 16245 607451 REVIEWED 1344953 GMIP GEM interacting protein This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternatively spliced variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 19644360 19658530 - 19601285 19615455 - 19740285 19754455 - 1580863;6480464 12093360;16143398;16086184;15375573;12477932;8889548;22438581;20351714;19913121;20628086;21890473;22318606;22505724 51291 B7ZLZ0;E7ERB7;K7EJC2;K7ELE8;K7EQR5;Q9P107 ABBA01051338;AC011458;AF086104;AF132541;AI073975;AK297220;AMYH01009610;BC032057;BC126436;BC144142;BM666941;BX362896;CH471106;NM_016573 AAF61330;AAI26437;AAI44143;BAG59703;EAW84838;EAW84839;EAW84840;EAW84841;EAW84842;EAW84843;EAW84844;EAW84845;NP_057657;Q9P107 Hs.49427 1686788;5095016 GMIP;RH98505 ARHGAP46 GEM-interacting protein APPROVED protein-coding ENSG00000089639 24852 11005 609694 REVIEWED 736890 GMFG glia maturation factor, gamma 19 19 19 q13.2 36620680 36628409 - 44510839 44518460 - 39818999 39826726 - 1298632;1580863;6480464 9653160 8798479;8639570;7598724;18029348;17127212;15489334;12591611;12477932;11042152;10541589;9545571;16169070;22510515;21890473;21906983;22505724 9535 M0QX47;M0QXC2;M0QXZ6;M0QYD5;M0QYG8;M0QYJ8;M0R0C1;M0R1D2;M0R2P2;O60234;Q6IB37 AB001993;AB040440;ABBA01040728;ABBA01040729;AC011445;AF038956;AF108027;AMYH01009792;BC022207;BC032819;BC061922;BC080180;BC093799;BC101818;BC143543;BC143546;BC143548;CH471126;CR456967;CR542114;EB387540;NM_004877 AAC39870;AAD27807;AAH32819;AAH80180;AAH93799;AAI01819;AAI43544;AAI43547;AAI43549;BAA25572;BAB86591;CAG33248;CAG46911;EAW56874;NP_004868;O60234 Hs.5210 1665777 SGC32767 GMF-GAMMA;MGC126867 glia maturation factor gamma protein-coding ENSG00000130755 4374 06821 604104 VALIDATED 1317284 GML glycosylphosphatidylinositol anchored molecule like 8 8 8 q24.3 140225950 140237983 + 143913219 143925264 + 143916217 143928262 + 1580863;6480464 8934543;15489334;12477932;9169150;20237496;20800603 2765 E5RI31;Q99445 AB000381;ABBA01005285;ABBA01005286;AC083841;AMYH01019093;BC074930;BC126336;BC126338;CH471162;D84290;NM_002066 AAH74930;AAI26337;AAI26339;ADR82818;BAA12300;BAA19961;EAW82296;NP_002057;Q99445 Hs.661218 1704008;2107165;2157262 GML__6816;RH68307;SHGC-77791 LY6DL GPI anchored molecule like protein;Glycosylphosphatidylinositol-anchored molecule-like protein;OTTHUMP00000227179;glycosyl-phosphatidylinositol-anchored molecule-like protein;glycosylphosphatidylinositol anchored molecule like protein APPROVED protein-coding ENSG00000104499 4375 03844 602370 VALIDATED 4890559 GMPSP1 guanine monphosphate synthetase pseudogene 1 4 4 4 p16.1 8068062 8068658 + 8217267 8244127 + 8176151 8176747 + 728564 ABBA01008688;AC104650;AMYH01013928;CH471131;NG_023314 EAW82356 1691184;1715571;1768727;2119102;2134507;2189241 G41958;G65168;RH120927;RH93796;SHGC-16466;SHGC-50194 pseudo 39428 VALIDATED 1607034 GMPPA GDP-mannose pyrophosphorylase A This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008] 2 2 2 q35 214133579 214141710 + 220071857 220079955 + 220363587 220371718 + 6480464;6907045 14702039;12477932;11082198;8125298;16189514;15146197;15342556;22863883;22939629;21145461;17623298;21139048;21890473;21906983;22797925 29926 C9J255;C9JAH0;F8WD54;Q96IJ6 AB209592;ABBA01023840;AC053503;AF135422;AK000999;AK022578;AK222951;AK290671;AK296193;AMYH01011509;BC007456;BC014266;BP284488;BP366441;CH471063;CN309976;NM_013335;NM_205847 AAD38517;AAH07456;AAY15053;ABM83799;ABM87120;BAA91460;BAD92829;BAD96671;BAF83360;BAG51096;BAG58922;EAW70755;EAW70756;EAW70757;EAW70758;EAW70759;NP_037467;NP_995319;Q96IJ6 Hs.27059 1675527;1734858;1761869;1800036;1801998;1803744;1804226;1804530;1817046;1817354;1819494;1830274;1844898;1964428;1964430;1964432;1964434;1964436;1964438;1964440;1964442;1964444;1964446;1964448;1964450;1964452;1964454;1964456;1964458;1964460;1964462;1964464;1964466;1964468;1964470;1964472;1964474;1964476;1964478;1964480;1964482;1964484;1964486;1964488;1964490;1964492;1964494;1964496;1964498;1964500;1964502;1964504;1964506;1964508;1964510;1964512;1964514;1964516;1964518;2191781;2213984;2213986;2213988;2213990;2213992;2213994;2213996;5021481 A007H40;D2S1608E;ECD00873;ECD01880;ECD02779;ECD03036;ECD03194;ECD09572;ECD09727;ECD10814;ECD16271;ECD23665;MARC_7531-7532:996687912:1;REN53088;REN53089;REN53090;REN53091;REN53092;REN53093;REN53094;REN53095;REN53096;REN53097;REN53098;REN53099;REN53100;REN53101;REN53102;REN53103;REN53104;REN53105;REN53106;REN53107;REN53108;REN53109;REN53110;REN53111;REN53112;REN53113;REN53114;REN53115;REN53116;REN53117;REN53118;REN53119;REN53120;REN53121;REN53122;REN53123;REN53124;REN53125;REN53126;REN53127;REN53128;REN53129;REN53130;REN53131;REN53132;REN53133;RH98301;SHGC-145814;stSG633040;stSG633041;stSG633042;stSG633043;stSG633044;stSG633045;stSG633046 GTP-mannose-1-phosphate guanylyltransferase alpha;OTTHUMP00000064859;OTTHUMP00000064860;OTTHUMP00000064861;OTTHUMP00000064862;OTTHUMP00000071324;OTTHUMP00000199572;mannose-1-phosphate guanyltransferase alpha;mannose-1-phosphate guanylyltransferase (GDP) APPROVED protein-coding ENSG00000144591 22923 13588 REVIEWED 733310 GMPR guanosine monophosphate reductase This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009] 6 6 p23 16346790 16403759 + 16238811 16295780 + 1580863;1300048;6480464;6907045 9813009;15489334;14574404;12477932;12009299;8750194;8188226;2758468;2570640;2364435;2194676;1757097;1694726;1661705;17207965;16359702;19936222;20864672;22331829;22780124;23377640 2766 P36959 ABBA01022184;ABBA01022185;ABBA01022186;AL009031;AL138883;AMYH01016111;AMYH01016112;BC008281;CH471087;L35304;M24470;M27941;NG_013303;NM_006877 AAA52498;AAA52503;AAA53106;AAH08281;ACE86729;ACE87415;ADQ32308;EAW55368;EAW55369;NP_006868;P36959 Hs.484741 1691048;1694946;2158642;2160837 AL008736;G44372;RH17680;RH92529 GMPR1 GMP reductase 1;OTTHUMP00000016064;guanine monophosphate reductase;guanosine 5'-monophosphate oxidoreductase 1;guanosine monophosphate reductase 1 APPROVED protein-coding ENSG00000137198 4376 00754 139265 REVIEWED 1343245 GMPR2 guanosine monophosphate reductase 2 14 14 14 q12 4566286 4573086 + 23771488 23778288 + 24701648 24708448 + 1580863;6480464;6907045 15489334;12669231;12477932;12009299;11752456;10737800;21048031;17207965;22863883;21139048;22037469;23208589 51292 H0YK13;H0YK71;H0YKE1;H0YKK3;H0YL68;H0YLB8;H0YLV5;H0YMB3;H0YMG3;H0YMR9;H0YMV5;H0YMW6;H0YN22;H0YN74;H0YNH0;H0YNJ6;H0YNS9;Q6PKC0;Q86T14;Q9P2T1 AB032903;ABBA01061339;AF086919;AF135159;AF419346;AK226166;AL096870;AMYH01005611;AV660418;BC003053;BC008021;BC009832;BC093039;BE003291;BI259066;BX161436;BX161518;BX247993;BX375671;CA447126;CH471078;CR457156;NM_001002000;NM_001002001;NM_001002002;NM_016576 AAG09132;AAH03053;AAH08021;AAH09832;AAH93039;AAN32701;AAP97149;ADQ32069;BAA93080;CAD61908;CAD61951;CAD62327;CAG33437;EAW66051;EAW66052;EAW66053;EAW66054;EAW66055;EAW66056;EAW66057;EAW66058;NP_001002000;NP_001002001;NP_001002002;NP_057660;Q9P2T1 Hs.368855 1701224;2109357;2119068;2135624;2176945;5092636 A005K12;G32230;GMPR2_9700;RH104240;STS-F10804;STS-W60872 MGC15084;MGC830 GMP reductase 2;guanosine 5'-monophosphate oxidoreductase 2;guanosine monophosphate reductase isolog protein-coding ENSG00000100938 4377 13590 610781 VALIDATED 1607035 GMPPB GDP-mannose pyrophosphorylase B This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009] 3 3 3 p21.31 49723623 49726075 - 49733936 49736388 - 49758932 49761384 - 6480464;6907045 15489334;14702039;12975309;12843293;12477932;11347906;11082198;16189514;20307617;20877624;21297633;22863883;22939629;21139048;16344560;21963094;22053931 29925 Q9Y5P6 ABBA01024577;AC099668;AF135421;AK024319;AK026582;AK291700;AMYH01013162;BC001141;BC008033;CH471055;DA411701;HB882073;HB899650;HC939482;HC957059;NG_033731;NM_013334;NM_021971 AAD38516;AAH01141;AAH08033;ADZ15722;BAB14882;BAF84389;CBF65311;CBF78479;CBU90182;CBU98600;EAW65012;EAW65013;EAW65014;EAW65015;NP_037466;NP_068806;Q9Y5P6 Hs.567488 1675610;1684495;1712112;1735236;1852317;1856980;2117546;2128368;2177221;2182057 A004P45;A005X28;D3S2901E;G54105;RH15941;RH47478;RH78233;RH78461;RH91732;WI-18664 KIAA1851;MDDGA14;MDDGB14;MDDGC14 GTP-mannose-1-phosphate guanylyltransferase beta;OTTHUMP00000212649;OTTHUMP00000212650;OTTHUMP00000212651;mannose-1-phosphate guanyltransferase beta;mannose-1-phosphate guanylyltransferase APPROVED protein-coding ENSG00000173540 22932 13589 615320;615350;615351;615352 REVIEWED 1317736 GMNN geminin, DNA replication inhibitor This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011] 6 6 p22.3 24883143 24894257 + 24775159 24786327 + 1580863;6480464 11125146;15232106;9635433;19487297;19074885;18798731;18650381;18508524;18404646;18288374;17716975;17029205;16924111;16629645;16464175;16273206;15489334;15389519;15313623;15291814;15284237;15282313;15257290;15159417;14993212;14973489;14973488;14702039;14574404;12745091;12551974;12477932;12429841;9671596;17261582;8125298;18162579;15558010;15260975;11562349;22318606;20800603;17207965;20497246;19913121;20628086;16052631;16482215;17318181;19906994;15138268;16428461;20980834;16024661;18184650;17485275;21543332;16712791;21740351;8889548;20360068;21729526;21139048;21693764;21906983;22615398;21595939;22184288;18029348;15855168;22912832;23326393;23455922;23026135;21963094;21988832;22429811;23207902;22053931;22366459 51053 C9K0U5;E2QRF9;H7C608;O75496 ABBA01066538;AF067855;AK021685;AK222992;AK315743;AL133264;AL558330;AMYH01016152;BC005185;BC005389;BF977182;BG777134;BM699599;CB131959;CB992796;CH471087;HC732448;NG_030440;NM_001251989;NM_001251990;NM_001251991;NM_015895 AAC39787;AAH05185;AAH05389;ADQ32794;BAD96712;BAG51040;CBL95030;EAW55465;EAW55466;NP_001238918;NP_001238919;NP_001238920;NP_056979;O75496 Hs.234896 1683146;1792868;2106479;2160029 GMNN__6625;PMC166143P6;RH99045;WI-12631 Gem;RP3-369A17.3 OTTHUMP00000016095;OTTHUMP00000016096;OTTHUMP00000016097;OTTHUMP00000214411;geminin APPROVED protein-coding ENSG00000112312 17493 06783 602842 REVIEWED 1342605 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 19 19 p13.3 3045408 3072468 + 3094408 3121468 + 1580863;1579891;1581847;5131495;6480464;6484113;6907045 14624682;16141358;11395409 16365309;16350855;16297597;15863506;15693018;15632174;15623527;15489334;15322542;15057824;14702039;12759536;12670961;12477932;12401211;12130679;11916537;11524429;11507095;10789830;10718832;10598579;10446129;9858594;9481484;9462300;9152406;8836152;8621713;8552586;7797501;7492305;1902575;1302014;15507206;8530500;9175863;18713748;17552882;17535809;17056873;16723377;16611642;22307269;21366456;21464134;11118617;1322796;18240029;7937899;18936096;16102047;21083380;22939629;22977135;22240728;18781797;20531218;21945171;21987572;21139048;21890473;21906983;17603074;19322201;12193720;17110338;21963094;23000965;23802516;23802536;18632858 2767 K7EL62;P29992 AB209435;ABBA01002798;AC005262;AF011497;AF493900;AK091639;AL110227;AMYH01009300;BC001528;BC089041;BC096225;BC096226;BC096227;CH471139;CR457004;L40630;M69013;NM_002067 AAA58624;AAA99949;AAB64303;AAC25615;AAH89041;AAH96225;AAH96226;AAH96227;AAM12614;BAD92672;CAG33285;CAH56407;EAW69339;EAW69340;NP_002058;P29992 Hs.650575;Hs.654784 1681961;2131583 RH47293;RH79805 GNA-11 G-protein subunit alpha-11;g alpha-11;guanine nucleotide-binding protein G(y) subunit alpha;guanine nucleotide-binding protein subunit alpha-11;guanine nucleotide-binding protein, Gq class, GNA11 protein-coding 4379 00759 139313 VALIDATED 1320749 GMPS guanine monphosphate synthase In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008] 3 3 q24 157071019 157138215 + 155588325 155655521 + 1598998;1580863;5135485;5135488;5135537;6480464;6907045;7240710 11110714;3043317;20005278;6861338 16712791;8089153;16236267;15489334;12477932;9195163;8125298;7706277;7559506;6698284;21145461;1574589;15749019;19615732;20045992;20201926;20562859;20659789;22863883;19834552;21252943;22939629;21981925;18781797;19471022;21139048;21890473;21906983;21963094;22586326;20963938;19738201;21988832;22623428;23000965;22053931;22505724 8833 A8K639;F8W720;P49915 ABBA01058846;ABBA01058847;ABBA01058848;AC067721;AC104472;AC140753;AK223399;AK291504;AK300787;AK302148;AK315832;AMYH01013596;AMYH01013597;BC012178;BG721087;CB159072;CH471052;HB946314;HD003724;NG_023247;NM_003875;U10860 AAA60331;AAH12178;ABM87620;ABW03913;BAD97119;BAF84193;BAF98723;BAG62449;BAG63519;CBG07889;CBV21411;EAW78740;EAW78741;NP_003866;P49915 Hs.591314 1341092;1691184;1710850;1716789;1768727;2131031;2134507 D3S3587;D3S4088;RH121689;RH93796;SHGC-16466;SHGC-50194;SHGC-84195 GMP synthase;GMP synthase [glutamine-hydrolyzing];GMP synthetase;MLL/GMPS fusion protein;OTTHUMP00000213048;OTTHUMP00000213049;glutamine amidotransferase;guanosine 5'-monophosphate synthase APPROVED protein-coding ENSG00000163655 4378 10927 600358;601626 REVIEWED 1349450 GNAI2P1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1 12 p13.1 14407760 14408520 + 1733849;1733849 2772 ABBA01067872;AC092112;AMYH01004300;NG_027930 GNAI2A;GNAI2L APPROVED pseudo 4386 139180 INFERRED 7240962 GNAI2P2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2 10 q22.3 79828389 79829298 - 401646 ABBA01020223;AL731555;AMYH01002851;NG_030117 1706094;2165294 AFMa343xe1;SHGC-80084 pseudo 45110 INFERRED 1317712 GNA14 guanine nucleotide binding protein (G protein), alpha 14 This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009] 9 9 q21 79228368 79453043 - 80037995 80263232 - 1580863;5131495;6480464;6484113;6907045 11395409 10191087;18360038;17620339;16115892;15489334;12477932;10644457;10625681;8626727;8316840;9862775;7797501;19913121;20628086;11118617;11264236;1322796;16102047;18240029;19687291;20379614;7937899;8982657;22711498 9630 B1ALW3;O95837 ABBA01033927;ABBA01033928;ABBA01033929;ABBA01033930;ABBA01033931;ABBA01033932;ABBA01033933;AF105201;AF493903;AI263118;AI629022;AK312460;AL158159;AL353794;AL355535;AL359849;AMYH01021430;AMYH01021431;BC027886;CH471089;NM_004297 AAD17944;AAH27886;AAM12617;ABM81875;ABM81880;ABM85042;ABW03688;BAG35367;EAW62603;NP_004288;O95837 Hs.657795 1699384;1706582;1718511;1756743;1760355;1787134;2110429;2173727 GNA14_8966;RH103280;RH122457;RH70085;SHGC-141947;SHGC-143870;SHGC-155377;SHGC-82681 G-protein subunit alpha-14;OTTHUMP00000021515;g alpha-14;guanine nucleotide-binding protein 14;guanine nucleotide-binding protein subunit alpha-14 APPROVED protein-coding ENSG00000156049 4382 05095 604397 REVIEWED 1320997 GNA13 guanine nucleotide binding protein (G protein), alpha 13 17 17 q24.3 60437295 60483216 - 63005407 63052920 - 1580863;6480464;6484113;6907045 7791744;10026210;8999798;19074425;18922893;18713748;18703424;18541530;18320579;17878759;17595347;17510313;17493936;17449226;17081065;17056591;16787920;16601072;16212421;16046415;15761153;15735747;15489334;14702039;14634662;12767884;12681510;12623966;12594220;12515866;12509430;12477932;12399457;12297512;12176367;12135322;12117999;11994484;11976333;11696326;11136230;11094164;11062019;10922491;10821841;10816569;10747909;10644457;10598579;10488065;10395940;9641916;9092554;8824244;8552586;8290554;22661716;10648409;12123608;16418336;18577758;19093215;19226283;19422395;19615732;19654325;19772916;20075254;20160064;20379614;7937899;20044778;20974127;21148034;21212405;21592972;21757753;19390533;21934106;19322201;21139048;21890473;21906983;15782186;20876399 10672 F5H1G8;Q14344 AB075500;ABBA01029053;ABBA01029054;AC037487;AF493902;AK002117;AK026902;AK301699;AK302400;AK313672;AMYH01008570;BC036756;CH471099;DC335364;L22075;NM_006572 AAA74235;AAH36756;AAM12616;ABM84498;ABM85374;BAG36424;BAG63171;BAH13696;EAW88993;EAW88994;EAW88995;EAW88996;NP_006563;Q14344 Hs.515018 1340693;1851725;2155817;2158364;2184870 D17S1825;D17S2016;RH18264;RH47479;WI-19650 G13;MGC46138 G-protein subunit alpha-13;g alpha-13;guanine nucleotide-binding protein subunit alpha-13 protein-coding 4381 05100 604406 VALIDATED 732491 GNA12 guanine nucleotide binding protein (G protein) alpha 12 7 7 p22.2 2734265 2850485 - 2767739 2883959 - 1580863;6480464;6484113;6907045 22087220;18391951;18367648;18541530;18320579;18307725;17878759;17565996;17510313;16787920;16705036;16612612;16247467;15980433;15746095;15525651;15489334;15240885;15221642;14702039;12853948;12690205;12623966;12594220;12515866;12477932;12297512;12176367;12117999;11976333;11598136;11136230;11094164;9796816;9485474;8647866;8552586;8423800;7829508;7791744;8824244;12761884;14636890;14634662;11546812;8290554;10026210;10477691;10648409;11313914;19008857;18713748;20546612;10787407;11069896;12123608;17595347;19226283;19343178;19422395;19716891;19772916;20160064;20189936;20379614;7937899;20044778;20837139;21297633;21212405;21472140;21832049;21308712;21592972;21139048;21726808;21906983;22126963;21986993;21110914;22249312;20881960;20876399;21988832;23000965;23128233;23218918 2768 B3KXS2;B7Z3F7;C9J2Y7;E7EUG4;E9PC54;Q03113;Q6ZQV4 AACC02000053;ABBA01039389;ABBA01039390;AC004933;AC006028;AF493901;AI381970;AK024696;AK024834;AK025582;AK025894;AK122830;AK127842;AK128701;AK295830;AL512719;AMYH01016978;AMYH01016979;AMYH01016980;BC007400;BC009457;BC063396;BC087537;BC111464;BI553022;BM557907;CA446135;CH236953;CH471144;L01694;NM_007353 AAA35867;AAD05026;AAH87537;AAI11465;AAM12615;AAP21870;AAP21871;BAC87579;BAG54584;BAH12193;EAL23961;EAW87272;EAW87273;EAW87274;NP_031379;Q03113 Hs.487341 1339987;1644900;1669464;1671412;1688408;1697802;1797586;2119138;2122702;2131595;2171637;2173392;2174912;2182562;2183225 D12S364;GDB:1318700;GDB:1318724;GDB:4585499;GNA12_2314;IB3257;RH102425;RH17789;RH47160;RH48509;RH91763;SGC30408;SHGC-2608;SHGC-55936;WI-8539 MGC104623;MGC99644;NNX3;RMP;gep G-protein subunit alpha-12;OTTHUMP00000149934;WUGSC:H_GS165O14.2;g alpha-12;guanine nucleotide binding protein, alpha 12;guanine nucleotide-binding protein subunit alpha-12 protein-coding ENSG00000146535 4380 05093 604394 VALIDATED 732130 GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 19 19 p13.3 3087191 3114766 + 3136191 3163766 + 1580863;5131495;6480464;6484113;6907045 11395409 7797501;10571060;8415674;16218966;15489334;15057824;14551213;14535952;12885252;12748287;12670499;12647293;12477932;12401211;12095632;11686331;10973974;10644723;9988720;9843397;9742207;9572309;8863838;7703490;7608160;1905813;1302014;11118617;1322796;18240029;18755267;19687291;7937899;20445134;17207965;20736409;16102047;21486497;21832049;19275934;20150327;22227248;22505724 2769 K7EP74;P30679 ABBA01002799;ABBA01002800;ABBA01002801;ABBA01002802;AC005262;AC005264;AF493904;AK291329;AK300481;AMYH01009301;BC013585;BG178215;BT009850;CH471139;GU727637;GU727645;M63904;NM_002068 AAA35860;AAC25612;AAC25616;AAH13585;AAM12618;AAP88852;ADQ32735;ADU87639;ADU87646;BAF84018;BAG62197;EAW69338;NP_002059;P30679 Hs.73797 1299905;1660046;2107167;2171099 D19S247;G13205;GNA15__7519;RH11456 GNA16 G-protein subunit alpha-15;G-protein subunit alpha-16;epididymis tissue protein Li 17E;g alpha-15;g alpha-16;guanine nucleotide-binding protein subunit alpha-15;guanine nucleotide-binding protein subunit alpha-16 protein-coding ENSG00000060558 4383 00760 139314 VALIDATED 1353631 GNAQP1 guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1 2 2 2 q21.1 125902976 125905142 - 131897593 131899227 - 132180315 132182508 - 8825633 2777 ABBA01028239;AC022629;AC073869;AMYH01011101;NG_000862;U40037 1687417;1787194;2175720 RH68297;SHGC-53345;SHGC-85075 GNAQP APPROVED pseudo 4391 INFERRED 2300358 GNAS-AS1 GNAS antisense RNA 1 This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010] 20 20 20 q13.32 54134432 54166399 - 56827369 56859353 - 57393973 57425958 - 16344560;11889554;11056047;10749992;10716699;19656776 149775 ABBA01005969;AJ251759;AL132655;AMYH01012023;BF589977;DB067618;NG_021433;NR_002785 Hs.122718 1793860 PMC301417P2 GNAS-AS;GNAS1AS;GNASAS;NCRNA00075;NESP-AS;NESPAS;SANG APPROVED miscrna ENSG00000235590 24872 610540 REVIEWED 730824 GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 7 7 q21 79602076 79686661 + 79764140 79848725 + 1642020;6480464;6484113;6907045 12890892 20716524;2834384;15537540;3110783;3139448;18984596;18519563;18378672;18083345;18037379;17646583;17416965;17267663;17013094;16775006;16381901;16371464;16004878;15863506;15837785;15657046;15489336;15489334;15242332;14625285;14623889;14602724;14581469;14576516;14530282;12853948;12711604;12629551;12496284;12477932;12297512;12068084;11976690;11955952;11916537;11732925;11507164;11387333;11259487;11256614;11230166;11168387;11076863;10978845;10690676;21654736;10644671;10598591;10488065;10471510;10364213;9748257;9660808;9572280;9207071;9110174;8986788;8619474;8552586;8504751;8183236;8107314;7914078;3130752;3092218;2440724;1953657;1902575;15972662;12509430;10840027;8626678;11253162;12860983;10878019;12538595;14656218;11842095;10973974;11069896;11306274;15569929;19899154;19913121;20628086;16099817;20679342;10506573;11196645;11369763;11980706;11981043;12379657;12761884;14993377;15251452;15488169;16298104;16530190;16892066;17215244;18240029;18577758;19369247;19494521;19641626;19666700;19951712;20468064;7937899;8208289;8521505;11118617;16484338;20696855;20586915;20829352;17635935;16778767;12202484;23341447;23404499;22939629;21880739;20360068;21139048;21726808;21890473;21906983;22360420;22070874;23086480;16782902;21565611;21963094;21987572;21988832;23000965;23467353;19338310;23179791;18453587;22505724 2770 C9J2Z2;C9JL77;C9JPP4;Q8TAN5 AACC02000015;ABBA01058047;ABBA01058048;AC004159;AC080066;AF055013;AF493905;AI878901;AK292953;AK304442;AL049933;AMYH01017642;AMYH01017643;AMYH01017644;BC026326;BT019775;CD299597;CH236949;CH471091;M17219;M20594;NM_001256414;NM_002069 AAA35893;AAA52581;AAC03418;AAC09361;AAH26326;AAM12619;AAV38580;ABM83311;ABM86524;ABM86525;BAF85642;BAG65263;CAB43212;CAL38533;EAW77009;EAW77010;EAW77011;EAW77012;NP_001243343;NP_002060;P63096 Hs.134587 1337520;1656549;1671326;1755153;1795932;1856965;2113708;2114577;2149625;2152661;2174604;7185300 D7S2639;D7S2741;D7S634;G17154;GDB:1318186;GNAI1;GNAI1_981;RH16584;SHGC-142078;SHGC-30450;SHGC-56112 Gi Gi1 protein alpha subunit;OTTHUMP00000161319;OTTHUMP00000208047;adenylate cyclase-inhibiting G alpha protein;guanine nucleotide-binding protein G(i) subunit alpha-1 APPROVED protein-coding ENSG00000127955 4384 00756 139310 REVIEWED 731003 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012] 1 1 p13 109892824 109938498 + 110091186 110138465 + 1580863;6480464;6484113;6907045;7240710 3109953;7608168;2452165;18663145;18628988;17100651;16511171;16298104;15489334;15251452;12925752;12860983;12826607;12509430;12477932;11961076;11955952;11752444;11563974;11443111;11387333;11168387;11055978;10978845;10644457;10633085;10598579;10508224;10092682;10072511;9858594;9647645;9600933;9079700;8986788;8806649;8774883;8663053;8650218;8626678;8552586;8524874;8504751;8316840;8218170;3132707;3120178;2834384;2440724;2108158;1902575;10364213;20607800;14993377;11196645;11253162;12379657;15488169;16892066;17215244;18240029;18577758;19808657;20065032;20125088;20190146;20379614;7962171;8208289;8521505;11118617;17635935;21209316;22939629;21795707;18781797;20360068;21139048;10737800;15342556;7829101;19322201;21890473;21906983;21931697;21963094;21987572;22560091;22863883;16371464;18453587;22053931;22186894;22505724 2773 P08754;Q5TZX1 ABBA01068380;AF493907;AI684171;AK130069;AK311691;AK312252;AL355310;AMYH01000933;AW984247;BC025285;BE886720;BI492787;BP289420;BT019973;BT019974;BU195094;BU622030;CH471122;CX165017;J03005;J03198;J03238;M20604;M27543;NG_032795;NM_006496 AAA35895;AAA35896;AAA35939;AAA52557;AAA52579;AAH25285;AAM12621;AAV38776;AAV38777;ABM83788;ABM87110;BAG35184;EAW56393;NP_006487;P08754 Hs.73799;Hs.741171 1683197;1692184;1706980;1761359;2155699;2161513;5119482 AL033729;D1S3364;D1S3455;RH99215;SHGC-145381;SHGC-75278;SHGC-80989 87U6;ARCND1;FLJ26559 OTTHUMP00000013368;g(i) alpha-3;guanine nucleotide-binding protein G(k) subunit alpha APPROVED protein-coding 4387 00765 139370;602483 REVIEWED 731425 GNAQ guanine nucleotide binding protein (G protein), q polypeptide This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] 9 9 q21 79525009 79836012 - 80335189 80646219 - 737757;1598475;1580863;1642020;1579891;1581847;5131495;6480464;6484113;6907045;7240710 9687499;9811897;12890892;14624682;16141358;11395409 9238049;8825633;9175863;1851174;2841328;9198220;10633085;19426503;19078957;19074441;19074439;18991294;18989526;18851832;18719078;18632858;18514160;18434368;18424071;18326504;18322150;18096806;17720980;17606614;17535809;17307333;17197445;16995904;16893886;16860758;16650966;16481068;16381901;16218966;16038796;15794946;15698833;15694379;15611106;15489336;15471870;15466861;15383626;15322542;15115661;14617636;14561750;12885252;12807915;12714438;12711604;12704201;12670961;17552882;12670932;12629551;12626493;12496284;12477932;12193606;12016230;11955952;11916537;11848441;11812005;11753430;11686331;11443126;11408001;11278452;11253162;11194358;11076863;10728414;10598591;10550060;10488065;10446129;9770463;9700850;9685625;9660808;9488690;9405622;9152406;9061052;8923415;8836152;8664309;8655576;8552586;8504751;8227063;8188646;7791744;7629074;7492305;1333286;12652642;12509430;14634662;12748287;8863838;15735747;20590159;21366456;20562673;20631239;11118617;11375483;11875076;11981043;12130679;12650852;1322796;15251452;16102047;18240029;18577758;18672896;18936096;19332487;19445628;19551532;19654573;19718445;19903011;20007712;20379146;20399743;7937899;9481484;20237586;21083380;20664004;21056896;20805136;21304157;20714830;22905097;23066026;21464134;20865267;22939629;22977135;21072599;21515378;21487925;21592972;19936769;20133939;21940795;21139048;21906983;21945171;22253748;22056876;22307269;15782186;8982657;23159116;17498700;21963094;21988832;23656586;22701657;22710260 2776 B1AM21;G3V1P7;P50148 ABBA01033935;ABBA01033936;ABBA01033937;ABBA01033938;ABBA01033939;ABBA01033940;AF011496;AF329284;AF493896;AK298579;AL160268;AL160278;AL355535;AMYH01021432;AMYH01021433;BC057777;BC067850;BC069520;BC075096;BC075097;CH471089;CV570171;DB474490;FB511250;JN184778;JN184779;JN184780;JN184781;L40629;L76256;NG_027904;NM_002072;U40038;U43083 AAA99950;AAB06875;AAB39498;AAB64301;AAC50363;AAG61117;AAH57777;AAH67850;AAH69520;AAH75096;AAH75097;AAM12610;AEV76928;AEV76929;AEV76930;AEV76931;BAH12817;CAL37720;CAL38271;CAL38639;CAV33030;EAW62605;EAW62606;EAW62607;EAW62608;EAW62609;EAW62610;NP_002063;P50148 Hs.269782 1337850;1660832;1693720;1726817;1754263;1756217;1763915;1769609;1775570;1787194;1848378;2119898;2128175;2132043;2170008;2175720;5492751 A002Y36;D9S1123;G62798;RH47080;RH68862;RH69769;RH79011;SHGC-132278;SHGC-143088;SHGC-147581;SHGC-53345;SHGC-56723;SHGC-58639;SHGC-85075;STS-AA029953;UniSTS:482300;WI-11656 CMC1;G-ALPHA-q;GAQ;SWS OTTHUMP00000021516;guanine nucleotide-binding protein G(q) subunit alpha;guanine nucleotide-binding protein alpha-q;heterotrimeric guanine nucleotide-binding protein alpha q subunit APPROVED protein-coding 4390 02998 163000;185300;600998 REVIEWED 730993 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been detected for this gene, but the full-length nature of only two are known so far. [provided by RefSeq, Oct 2009] 3 3 p21.31 50248651 50271790 + 50273647 50296786 + 704404;1598461;1580863;6480464;6484113;6907045;7240710 9637720 22333621;16189514;8587610;7961880;19367581;19169048;18940181;18854172;17550964;16565233;16298104;15640523;15489334;15331550;15312896;15251452;15126921;14702039;14701866;14634662;14623802;12860983;12748287;12624107;12509430;12477932;12359238;12088413;12068084;11955952;11950062;11387333;11369591;11286993;11168387;11120746;11055978;10978845;10906137;10840027;10727522;10644723;10598579;10493819;10471929;9660808;9647645;9237368;9092559;9079700;8986788;8982657;8973305;8903513;8663226;8663057;8663053;8662698;8621645;8554519;8552586;8473899;8362897;8190105;8098045;7962171;7887906;7882989;7737262;3120178;3100330;2837412;2834384;2512386;2502457;2169434;2121366;2116665;2114093;1733849;1718802;1671672;11253162;16169070;19913121;20628086;11196645;16892066;17215244;18240029;18577758;19282110;19542234;8208289;8521505;16344560;14993377;7937899;11118617;21079996;17635935;23106098;15047060;21856938;22863883;22939629;20360068;21949112;21139048;21890473;21906983;21987572;10518015;15782186;16263121;16782902;17110338;21963094;21988832;22936789;23000965;15972662;16371464;18453587;20876399;22505724;23071112 2771 B3KP24;B3KTZ0;B3KX51;B4E2X5;F5GZL8;F8WBG4;F8WE78;P04899 ABBA01024553;AF493906;AK055574;AK096299;AK096595;AK126708;AK131062;AK302330;AK304473;AMYH01013168;AY677118;BC012138;BC014627;BC016995;CH471055;CR456783;DB044421;J03004;M20593;NG_016002;NM_001166425;NM_002070;U73166;U73169;X04828;X07854 AAA35894;AAA52556;AAD12229;AAD12230;AAH12138;AAH14627;AAH16995;AAM12620;AAT78421;ABM83709;ABM86834;BAG51536;BAG53252;BAG53334;BAG54363;BAG63662;BAG65287;CAA28512;CAA30703;CAG33064;EAW65051;EAW65052;EAW65053;EAW65054;EAW65055;EAW65056;NP_001159897;NP_002061;P04899 Hs.77269 1712547;1741437;1743089;1790215;2124811;2130974;2158694;5014051;5022200;5037552 BI273769;D8S2278;D8S2279;G07074;GDB:181210;GDB:251998;L18426;M13963;RH17625;SGC31568 GIP;GNAI2B;H_LUCA15.1;H_LUCA16.1 GTP-binding regulatory protein Gi alpha-2 chain;OTTHUMP00000211065;OTTHUMP00000211066;OTTHUMP00000211067;OTTHUMP00000211070;adenylate cyclase-inhibiting G alpha protein;guanine nucleotide-binding protein G(i) subunit alpha-2;guanine nucleotide-binding protein G(i), alpha-2 subunit APPROVED protein-coding ENSG00000114353 4385 00764 139360;192605 REVIEWED 731076 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 16 16 q13 54783649 54948651 + 56225251 56391356 + 1300048;1580863;1302571;6480464;6484113;6907045 9501252 1899283;9050846;18262754;16344560;15251452;14702039;12925752;12911629;12860983;12711604;12509430;12477932;12039967;11916537;11732925;11395521;11259487;11124982;11069896;10973974;10926822;10598591;10521440;10330115;10196137;10066808;9660808;9647645;9572280;9359829;9271201;9079700;8986788;8869990;8552586;8393523;8107314;8078296;7887906;7705473;3124840;2518353;1901650;1899868;1556134;1349607;10753665;10364213;16169070;20602615;17185339;1322796;11253162;15215290;16892066;18240029;18407463;19497306;19666700;20097574;20379614;8208289;8521505;11118617;20829352;17500595;22562654;20360068;21906983;21511947;22505724 2775 B3KP89;H3BN82;H3BNR5;H3BQG8;H3BTM2;P09471;Q6AWC5;Q8N6I9 ABBA01025240;ABBA01025241;ABBA01025242;AC009102;AC079411;AF493894;AF493895;AK056008;AK295680;AL512686;AMYH01007689;BC012202;BC030027;BX647214;CH471092;CR936770;DA115582;DA500625;DA529437;M19182;M59927;M60156;M60162;M60164;NM_020988;NM_138736;Y18213 AAA52584;AAA52585;AAA52586;AAH30027;AAM12608;AAM12609;ACE86931;ACE87618;BAG51601;BAG58537;CAB46639;CAH10548;EAW82849;EAW82850;NP_066268;NP_620073;P09471 Hs.644524 1337875;1341768;1646289;1648184;1696168;1729805;1738511;1738513;1738667;1752529;1758827;1759321;1766855;2123778;2134249;2172331;7184681;7186507;7187397 D16S2698;D16S2699;D16S2786;D16S3140;D16S317;D16S408;D16S434E;D16S736;G10169;RH68394;RH71386;SHGC-106383;SHGC-151028;SHGC-151169;SHGC-152262;SHGC-79158 DKFZp686O0962;G-ALPHA-o;GNAO OTTHUMP00000164318;OTTHUMP00000164319;guanine nucleotide binding protein, alpha activating polypeptide O;guanine nucleotide-binding protein G(o) subunit alpha protein-coding ENSG00000087258 4389 00757 139311 VALIDATED 1349997 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 18 18 p11.22-p11.21 11679263 11871922 + 11689014 11885684 + 1580863;6480464;6484113;6907045 21110914;8243272;19328558;19245791;17166517;16818375;16344560;16044173;15342556;14702039;12782961;12477932;12037684;11901355;11032382;10026232;1302014;14993377;19615732;20379614;7937899;8663304;21139048;21890473;21963094;21987572;23000965;17207965;21906983;20133939;20360068;22120635;8889548;23459443;22505724;23222958 2774 A8K1Y9;K7EMY6;K7EPE2;K7EQ80;P38405 ABBA01073998;ABBA01073999;ABBA01074000;ABBA01074001;ABBA01074002;AF493893;AK090868;AK290054;AK295088;AK307260;AK313902;AK316141;AMYH01008818;AMYH01008819;AP001120;AP001269;AP005137;BC050021;BP230966;BU163496;BX097239;CB241142;CH471113;CQ759976;DA190390;DB475200;DC323877;DC336037;L10665;NM_001142339;NM_001261443;NM_001261444;NM_182978;U55184 AAC37535;AAD00085;AAH50021;AAM12607;ADQ32485;BAC03535;BAF82743;BAG36625;BAG58129;BAH14512;CAF32888;EAX01573;EAX01574;NP_001135811;NP_001248372;NP_001248373;NP_892023;P38405 Hs.136295;Hs.741448 1335503;1645695;1682051;1685750;1701634;1713425;1713875;1744843;1744845;1744847;2107169;2122566;2132125;2152345;2159945;2162676;2176621;5016596;5020948;7185722;7186480 D18S1193;D18S1241;D18S482;G17678;G35510;GDB:569370;GDB:569480;GDB:569515;GDB:631802;GNAL__7520;RH104461;RH119368;RH119570;RH42015;SGC30688;STS-N37055;WI-12711;WI-15313;WI-20459 DYT25 OTTHUMP00000162435;OTTHUMP00000162436;adenylate cyclase-stimulating G alpha protein, olfactory type;guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory typ;guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type;guanine nucleotide-binding protein G(olf) subunit alpha protein-coding ENSG00000141404 4388 00758 139312;615073 VALIDATED 1604949 GNAT3 guanine nucleotide binding protein, alpha transducing 3 7 7 q21.11 79925923 79979178 - 80087987 80141242 - 2302147;6480464;6907045 18824257 17724332;17724330;17021831;16728727;12853948;12690205;11917125;8015379;10570481;20660057;12477932;16892066;18240029;8208289;8521505;11118617;20858777;21906983;20360068;21324568;18468998;22456541;22505724 346562 A8MTJ3 AACC02000015;ABBA01058051;ABBA01058052;ABBA01058053;AC004862;AC073182;AC092108;AMYH01017645;BC147016;BC147017;CH236949;CH471091;NM_001102386 A8MTJ3;AAI47017;AAI47018;EAL24192;EAL24193;EAW77007;NP_001095856 Hs.335049 GDCA OTTHUMP00000207937;guanine nucleotide-binding protein G(t) subunit alpha-3;gustducin alpha-3 chain protein-coding ENSG00000214415 22800 139395 PROVISIONAL 736916 GNAS GNAS complex locus This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012] 20 20 q13.3 56848190 56919645 + 57414795 57486250 + 1580401;1580402;1580403;1580404;1580405;1580406;1580407;1331525;704404;1601377;1601379;1601375;1601376;1601378;1625210;2315004;2312654;2313211;2312469;1579891;2312656;2317256;4140391;5147387;5144213;6480464;6907045;7240710 15711092;15181091;15070926;12215464;12119276;11910300;15297467;15118671;17356712;17020971;2122458;2549426;17101633;15687107;17010343;18971210;15579502;18948702;14624682;18431594;12771991;19110970;16484629;20852827 9159128;17353931;10729789;12626323;7997272;3018580;11256614;19449667;19429701;19351817;19287459;19274060;19243996;19237173;19189654;19169048;19136681;19073398;19029852;19029774;18951142;18812479;18806481;18755267;18700313;18697996;18694911;18634020;18597624;18553568;18451148;18367996;18362425;18354007;18347176;18258741;18192900;18184921;18182455;18181202;18075835;18038328;18006055;17991745;17982386;17982384;17962410;17937059;17672918;17652219;17595244;17594522;17566083;17514647;17427647;17388805;17186357;17164301;17161328;17062894;17045734;17008315;16876683;16789633;16789629;16789628;16789627;16789620;16575178;16484323;16467086;16442859;16406317;16344560;16315032;16210433;16110341;16081638;16033819;16004878;15894831;15824158;15701569;15592469;15564881;15537666;15531240;15489334;15479166;15368366;15361543;15242332;15234971;15148396;15147378;15126527;15112914;15053924;14991457;14702039;14694347;14561710;14500986;13678786;12970318;12970307;12970263;12862199;12858292;12756386;12749029;12748287;12719376;12672054;12665801;12656668;12652642;12624854;12621129;12619926;12605446;12488443;12477932;12374764;12364467;12199346;12147228;12116190;12106601;12030931;12024004;11968001;11926205;11916537;11836449;11812005;11784876;11780052;11779226;11729322;11600516;11600515;11583900;11583302;11450852;11447126;11297617;11294873;11241472;11095461;10931851;10749992;10598591;10571700;10521440;10493819;10487696;10200251;10190480;9876352;9860993;9794454;9707596;9647645;9626141;9525885;9506752;9328353;9268375;9267696;9228084;8766942;8702665;8663226;8621513;8552586;8388883;8126161;22939629;22931242;22367301;8072545;8037842;8011597;7815417;7797570;7751320;7739708;7737262;7523385;3131741;3127824;3093273;3024154;2109828;1944469;1908089;1769666;1716359;1594625;1505964;18948082;15782186;8125298;22245114;22833384;21169072;22564667;22797727;22511293;20346714;20537689;20203101;19913121;20565774;20628086;18070145;18240029;18642089;19381065;19381884;19412439;19494712;19513951;19542315;19550078;19826830;19948975;20008020;20023040;20027678;20061437;20133939;20150876;20201926;20336923;20459687;20468064;9417641;20427508;16460020;20119640;20689139;20887824;17207965;19593725;20804925;20443919;19858129;20803660;20015054;22371153;22593505;19874199;20531296;19856255;20398730;20979189;12036966;19575869;19942373;20862257;20972248;21186955;21156401;22954004;9111083;21710407;16196087;21387769;21488135;21351142;21523828;21554434;21308712;15840729;21775669;21890629;21521295;21677417;21737952;22200434;17803690;18781797;20639865;21726808;21836370;21987572;17623298;21184583;21909110;21909115;22259056;21622536;20360068;21584660;21664251;21773967;21910239;22277900;22492776;21924916;21835143;20972266;21139048;21890473;21906983;22378814;21110914;21340746;22679513;22720333;23288882;22374786;22875848;12391161;23533243;22495359;21963094;21988832;22053931;23000965;23208952;23403822;23335286;23284784;22505724;22797925;9727013 2778 A2A2R6;A2A2S1;H0Y7E8;H0Y7F4;H0Y7Z6;O95467;P84996;Q5JWD1;Q5JWD4;Q5JWE9;Q5JWF2 ABBA01005968;ABBA01005969;AF064092;AF088184;AF088185;AF105253;AF107846;AF493897;AF493898;AJ009849;AJ224867;AJ224868;AJ251760;AK026564;AK054862;AK093534;AK122771;AK225818;AK314549;AK315860;AK315874;AL109840;AL121917;AL132655;AMYH01012023;AMYH01012024;AY898804;BC002722;BC008855;BC022875;BC036081;BC066923;BC089157;BC104928;BC108315;BT009905;CA335150;CH471077;CX869731;DB037677;M14631;M21139;M21142;M77026;NG_016194;NM_000516;NM_001077488;NM_001077489;NM_001077490;NM_016592;NM_080425;NM_080426;NR_003259;U12466;X04408;X04409;X07036;X56009 AAA52583;AAA53146;AAA53147;AAA53148;AAA53149;AAB60334;AAC16860;AAC34896;AAC34897;AAD11804;AAF63226;AAH02722;AAH08855;AAH22875;AAH66923;AAH89157;AAI04929;AAI08316;AAM12611;AAM12612;AAP88907;AAX51890;ACE86834;ACE87520;ADQ32746;BAF98751;BAF98765;BAG37135;CAA08889;CAA12164;CAA12165;CAA27996;CAA27997;CAA30084;CAA39484;CAB83214;CAB83215;EAW75457;EAW75458;EAW75459;EAW75460;EAW75461;EAW75462;EAW75463;EAW75464;EAW75465;EAW75466;EAW75467;EAW75468;EAW75469;EAW75470;EAW75471;NP_000507;NP_001070956;NP_001070957;NP_001070958;NP_057676;NP_536350;NP_536351;O95467;P63092;P84996;Q5JWF2 Hs.125898 1650419;1669890;1677658;1677967;1683731;1741333;1742765;1744155;1778047;1790307;1793002;1793446;1793858;1793860;1851513;2128091;2130588;2134019;2135961;2150140;2161891;2191717;2217372;5014023;5109611;5494149 D13S1553;D20S459;D20S541E;GDB:180724;GDB:203981;GDB:393268;GNAS1;GNAS_3080;Gnas;MARC_5561-5562:1031675650:1;PMC182207P1;PMC22380P2;PMC301417P1;PMC301417P2;RH11717;RH47664;RH68035;RH75699;RH93711;RH98861;SHGC-58255;SHGC-59923;SHGC-60147;STS-M21142;WI-11711;WI-18315 AHO;C20orf45;GNAS1;GPSA;GSA;GSP;MGC33735;NESP;PHP1A;PHP1B;PHP1C;POH;dJ309F20.1.1;dJ806M20.3.3 OTTHUMP00000031727;OTTHUMP00000031735;OTTHUMP00000031740;OTTHUMP00000031742;OTTHUMP00000031743;OTTHUMP00000031756;OTTHUMP00000174399;OTTHUMP00000174400;OTTHUMP00000196026;OTTHUMP00000196027;OTTHUMP00000196028;OTTHUMP00000196029;OTTHUMP00000196030;adenylate cyclase-stimulating G alpha protein;alternative gene product encoded by XL-exon;extra large alphas protein;guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1;guanine nucleotide regulatory protein;guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas;neuroendocrine secretory protein;protein ALEX;protein ALEX; protein GNAS; protein NESP55;secretogranin VI 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H APPROVED protein-coding ENSG00000087460 4392 00761 102200;103580;139320;166350;174800;219080;603233;612462;612463 REVIEWED 1312271 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] 3 3 p21 50204047 50208953 + 50229043 50235129 + 1599006;1580863;1600001;6480464;6893539;6907045;7240710 8673138;15939031;22074925 17584859;2534964;16641997;15489334;12477932;12119397;12107411;11032890;10878019;10583385;8917514;8889548;8307584;2902634;2748346;1898771;1614872;1302014;20801516;16892066;17222360;18240029;7822269;8208289;8521505;11118617;22190596;21890473;21963094;21987572;23000965;21139048;20360068;21906983;22505724 2779 C9JCV8;P11488 ABBA01024553;AC000063;AC002077;AF493908;AMYH01013168;BC095505;BQ637667;BU727496;BU728210;BX953950;CH471055;NG_009831;NM_000172;NM_144499;X15088;X63749 AAB54048;AAH95505;AAM12622;CAA33196;CAB37839;EAW65047;EAW65048;NP_000163;NP_653082;P11488 Hs.517978 1774631;2107171 GNAT1__7521;RH78884 CSNBAD3;GBT1;GNATR OTTHUMP00000210665;OTTHUMP00000210666;guanine nucleotide-binding protein G(T), alpha-1 subunit;guanine nucleotide-binding protein G(t) subunit alpha-1;rod-type transducin alpha subunit;transducin alpha-1 chain;transducin, rod-specific APPROVED protein-coding 4393 08850 139330;610444 REVIEWED 733341 GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008] 22 22 q11.22 21742669 21797224 + 23412669 23467221 + 1300048;1580863;1302584;6480464;6484113;6907045 10954748 2117645;2456569;3129724;18029348;18391951;15489334;15461802;15326221;12477932;12414994;11950062;10906137;10593970;10092682;9748279;9647645;9603210;9166747;8986788;8975005;8774883;8475115;8429024;7559455;2902634;2153964;2115889;1908722;1902575;1302014;12379657;15488169;16892066;18240029;19946729;8208289;8521505;11118617;11313909;20424519;17500595;21832049;21139048;21890473;21906983;19322201 2781 P19086;Q8IY73;Q8N652 ABBA01055101;ABBA01055102;AC000029;AF493899;AK126747;AK293653;AK312519;AMYH01012639;BC026342;BC037333;BC078163;BC096828;CH471095;CR456495;D90150;J03260;NM_002073 AAA52580;AAH26342;AAH37333;AAH78163;AAH96828;AAM12613;ABM83312;ABW03313;BAA14180;BAG35418;BAG57104;CAG30381;CAK54523;CAK54822;EAW59559;NP_002064;P19086 Hs.584760 1681526;1744379;1769194;2126355;2170554;2190827 G15854;GDB:452621;GNAZ;RH1696;SHGC-7743;WI-14102 OTTHUMP00000197927;g(x) alpha chain;guanine nucleotide-binding protein G(z) subunit alpha;gz-alpha;transducin alpha APPROVED protein-coding ENSG00000128266 4395 00746 139160 REVIEWED 1322292 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 3628001 3694531 - 18155934 18222462 - 19775934 19842462 - 1580863;6480464 11350118;11072084;19011233;18755269;18003636;15489334;15461802;15268862;12477932;11258795;10591208;20538345;20860462;21139048;21906983 54584 C9JPQ6;Q9BYB4 AB049212;AB051432;ABBA01005404;AC000076;AC000089;AF238328;AF301895;AMYH01012482;AY007378;BC012060;BF510806;CA425124;CH471176;CR456496;NM_053004 AAG12162;AAG36826;AAG53933;AAH12060;ACE87000;ACE87689;BAB33315;BAB68408;CAG30382;CAK54524;CAK54823;EAX03020;NP_443730;Q9BYB4 Hs.105642 1656234;1671460;1699616;1774071;2129696;2154583;2159289;5014039 D22S1266;D22S1584;RH103410;RH46328;SHGC-56622;STS-AA041293;STS-T79756;WI-15274 DGCRK3;FKSG1;GY2;KIAA1645;WDR14;WDVCF G-protein beta subunit-like protein;OTTHUMP00000028644;OTTHUMP00000196854;OTTHUMP00000196856;WD repeat-containing protein 14;WD40 repeat-containing protein deleted in VCFS;g protein subunit beta-like protein 1;guanine nucleotide binding protein beta-subunit-like polypeptide;guanine nucleotide-binding protein subunit beta-like protein 1 APPROVED protein-coding 4397 13591 610778 VALIDATED 1319893 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] 1 1 p13.1 109947412 109957228 - 110145889 110155705 - 1580863;1599034;6480464;6893539;6907045;7240710 12077706;22074925 2534964;1936270;15557429;15489334;15094710;12477932;12205108;9008644;8406495;8112713;3118369;2902634;1905716;1713215;1655754;1302014;1322796;16892066;18240029;19592100;20125088;8208289;8521505;11118617;21107338;20603337;21832049;21267001;21139048;21890473;21987572;23000965;20360068;21906983;21963094;21110914;20301591;23563607;22505724 2780 P19087;Q5T697 ABBA01068380;AF493909;AL355310;AMYH01000933;BC000233;BT009844;CH471122;D10384;NG_009099;NM_005272;S70567;U66698;Z18859 AAD14063;AAH00233;AAM12623;AAP88846;ABM83786;ABM87108;BAA01211;CAA79310;EAW56394;EAW56395;NP_005263;P19087 Hs.36973 1694490;1743949;2157383 G42982;GDB:376941;SHGC-75263 ACHM4;GNATC OTTHUMP00000013354;cone-type transducin alpha subunit;guanine nucleotide-binding protein G(t) subunit alpha-2;guanine nucleotide-binding protein G(t), alpha-2 subunit;transducin alpha-2 chain;transducin, cone-specific, alpha polypeptide APPROVED protein-coding ENSG00000134183 4394 00762 139340;613856 REVIEWED 732785 GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene uses alternative polyadenylation signals. [provided by RefSeq, Jul 2008] 1 1 p36.33 1706589 1812355 - 1716725 1822526 - 1300048;6480464;6893539;6484113;6907045 22074925 3095147;8717044;12626323;7649993;19110265;18729826;18596232;18045877;17548351;17492941;17356515;17167406;17110384;16371464;16368546;16221676;16099817;15953418;15889144;15489334;15331550;15105422;14702039;14512443;12887923;12743112;12527722;12512701;12486123;12486122;12477932;12359736;11698416;11294873;10819326;10744734;10644457;10570481;10518015;9238069;9110174;9108307;9009193;8619474;8552196;8521505;8308009;7972043;7829508;7665596;1979057;16884933;15782186;10339615;12782285;19168127;8982657;11196645;12507995;1543505;15611108;16102047;16225846;16418336;16892066;17215244;18240029;18577758;19727342;19917775;20007712;20048162;20381070;7624799;8208289;8290554;8636150;9152406;8889548;20181083;21679469;19255495;17500595;21674799;22939629;17043677;20360068;21987572;22065575;21139048;21890473;21906983;14662753;19322201;15955845;16498633;19376773;9789084;21182205;12202484;16782902;19738201;21963094;21988832;23000965;23171003;23398456;23326349;16027165;22053931;22186894;22505724 2782 B1AKQ8;B3KVK2;F6UT28;F6X3N5;P62873 ABBA01016071;ABBA01016072;ABBA01016073;ABBA01016074;ABBA01016075;ABBA01016076;AF070597;AF070603;AF501882;AK096614;AK122949;AK312614;AL031282;AL109917;AMYH01000158;BC004186;BC005888;BC008991;BC114618;BT007305;BU153593;BU684444;CH471183;CR456784;M36430;NM_002074;X04526 AAA63265;AAC28652;AAC28655;AAH04186;AAH05888;AAH08991;AAI14619;AAM15918;AAP35969;BAG35501;BAG53814;CAA28207;CAG33065;EAW56147;EAW56148;EAW56149;EAW56150;NP_002065;P62873 Hs.430425 1795934;1848253;2154208;2161483;2162129;2166294;2181949;5492160 D14S930;GNB1_444;PMC197251P1;RH64187;RH78938;SHGC-74079;SHGC-74103;SHGC-74116 G protein, beta-1 subunit;OTTHUMP00000001107;beta subunit, signal-transducing proteins GS/GI;guanine nucleotide binding protein, beta 1;guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 1;guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1;transducin beta chain 1 APPROVED protein-coding ENSG00000078369 4396 00766 139380 REVIEWED 1346162 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described. [provided by RefSeq, Jul 2008] 12 12 p13 6819636 6826818 + 6949375 6956557 + 1580408;1580410;1580411;1580409;1358639;1580863;2313204;2313206;2313205;6480464;6893539;6907045;7240710 11230982;10526907;12624279;11725157;12634518;18656447;16908025;17161225;22074925 9425898;2107550;12626323;18029348;19420911;19328558;19309415;19303909;19301222;19263529;19254215;19247266;19243996;19242491;19238444;19193342;19174793;19168127;19155782;19148102;19145770;19141860;19139061;19131662;19103106;19086053;19065529;19056482;18990763;18855531;18849222;18793692;18783529;18725220;18698227;18660489;18551105;18551043;18513389;18511740;18493717;18439224;18426866;18413308;18413224;18331431;18325652;18325076;18308786;18248681;18242170;18215653;18192837;18071056;18058092;17978878;17972053;17971028;17958314;17943025;17825147;17726725;17717746;17701674;17621167;17584726;17564628;17559964;17544870;17521439;17460549;17361120;17341998;17330058;17299381;17299380;17278960;17189961;17136758;17066254;17066084;17044851;17044850;17036337;16961612;16938762;16897596;16871746;16867916;16783490;16762621;16736244;16713434;16710319;16707857;16615274;16600389;16600156;16569552;16513451;16497648;16493638;16487269;16464220;16450155;16449941;16443564;16424860;16354603;16314886;16314202;16302021;16284746;16276364;16178055;16141801;16139171;16139102;16133558;16110247;16019105;16015130;16002097;15996174;15978856;15961981;15920455;15855877;15831363;15824464;15761153;15678704;15614196;15536455;15531240;15489334;15389246;15369653;15337465;15332573;15287194;15226674;15212839;15200440;15179018;15138483;15090636;15076154;15057736;15055253;12566975;12512701;12511541;12486123;12477932;12476328;12460053;12454992;12446192;12431187;12424427;12409514;12384823;12270649;12172218;12165748;12154107;12149126;12113397;12109775;12082592;12075862;12052841;12011775;12000471;11992559;11985260;11978662;11930987;11927836;11910300;11816511;11775125;11770079;11768721;11748488;11688759;11586049;11520049;11447495;11439289;11434508;11322658;11283377;11244012;11230366;12595577;12576843;11116112;10904009;10644457;10513993;15042113;15037876;15033462;15019160;14744475;14742836;14692527;14647404;14604448;14586390;14557282;14512207;13679998;12947562;12930636;12893983;12891286;12844135;12825146;12818251;12756405;12730030;12724620;12697327;12668921;12658019;12654703;12650956;12624609;12618278;9074930;8723724;8636150;8550614;7822269;1979057;16884933;20129829;19913121;20536507;20570668;20577119;20577224;20588308;20602615;20628086;20629643;20652353;20660057;20673868;20733583;20814328;21371559;19437226;19456220;19479237;19491387;19559392;19560507;19574959;19578796;19597293;19620885;19687782;19772422;19779330;19779464;19811352;19876010;19885780;19948975;19956635;19968497;20096003;20102604;20144152;20145952;20170352;20185488;20204402;20213484;20235788;20337945;20351714;20359253;20416077;20452482;20459474;20473689;20488209;20537417;20539277;21110287;10339615;22476228;22714918;17185339;20538960;20691427;20734064;20826553;20833658;20860462;20877298;20944660;20952631;20959405;21034538;19255495;21675276;21697133;21364877;21473734;21559741;21215181;21198262;21709600;21210858;22214232;22437554;22034052;23061407;21174581;21532295;21735268;21902766;21979884;22608746;22258330;22082654;19376773;9789084;22505724;22985949;23505911;22940628;22580528;22534794 2784 E9PCP0;F1T0G5;F5GZN8;F5H0S8;F5H100;F5H8J8;P16520 A93384;AB209283;AB593098;AB593099;ABBA01017662;AF501884;AF519545;AK313091;AMYH01004209;AY631872;BC000115;BC002454;BC015920;BT009800;CH471116;M31328;NG_009100;NM_002075;U47924;U47930;U47931;Y12050;Y12058;Y14140 AAA52582;AAB51313;AAC50468;AAH00115;AAH02454;AAH15920;AAM15920;AAN77120;AAP88802;AAT38116;ABM82885;ABM86075;BAD92520;BAJ84038;BAJ84039;CAA72779;CAB69546;EAW88730;NP_002066;P16520 Hs.631657 1685087;2142003;2152467;2219898 LEPREL2__6387;RH76209;STS-H92898;STS-U47926 G protein, beta-3 subunit;GTP-binding regulatory protein beta-3 chain;OTTHUMP00000238902;OTTHUMP00000238903;OTTHUMP00000238904;OTTHUMP00000238905;OTTHUMP00000238907;guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3;guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3;hypertension associated protein;transducin beta chain 3 APPROVED protein-coding ENSG00000111664 4400 00743 139130;145500 REVIEWED 733685 GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008] 7 7 q22 100109311 100114728 + 100271363 100276792 + 1300048;6480464;6907045 2902634;7649993;12626323;16973746;16498633;16341674;15955845;15761153;15489334;14702039;12665801;12512701;12486123;12477932;11675383;11591653;10644457;10409705;9921901;9799793;9648884;8308009;7782277;7665596;3114742;3108879;1946378;1602151;8636150;16169070;16884933;14499622;14679154;19615732;20381070;10339615;19168127;21319273;9238069;17207965;17185339;22917497;19255495;16196087;20360068;21139048;21890473;21900206;21906983;21987572;22178446;19376773;9789084;18255255;21182205;23043599;16371464;22053931;22505724 2783 B3KPU1;C9JIS1;C9JXA5;C9JZN1;E7EP32;P62879;Q6FHM2 ABBA01013192;AC009488;AF064853;AF501883;AK056750;AK291592;AL535249;AMYH01017740;BC010073;BC012348;BC068003;BM763069;CH471091;CR541729;CV569909;M16514;M16538;M36429;NM_005273 AAA03179;AAA35922;AAA63264;AAH10073;AAH12348;AAH68003;AAM15919;ADQ32731;ADZ15861;BAF84281;BAG51803;CAG46530;EAW76499;EAW76500;EAW76501;NP_005264;P62879 Hs.185172 1681438;1690582;1848448;5015990 Gnb2;RH67875;RH76198;RH79834 G protein, beta-2 subunit;OTTHUMP00000174595;OTTHUMP00000174601;OTTHUMP00000174602;OTTHUMP00000174603;OTTHUMP00000174604;OTTHUMP00000174605;OTTHUMP00000211369;OTTHUMP00000211370;g protein subunit beta-2;guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2;guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2;signal-transducing guanine nucleotide-binding regulatory protein beta subunit;transducin beta chain 2 APPROVED protein-coding ENSG00000172354 4398 11820 139390 REVIEWED 1348614 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008] 3 3 q26.33 180596570 180652065 - 179113876 179169371 - 1580863;6480464;6907045 12626323;19414374;18815590;15489334;14702039;12782285;12512701;12486123;12477932;12454992;11842130;11294873;10644457;10570481;10409705;8888689;8636150;16884933;10339615;22261722;17215244;17207965;23398456;23434117;23798571;21182205;20360068;21987572;21139048;21963094;23000965;19376773;16371464;21853274;22053931 59345 C9JD14;H7C5J5;Q9HAV0 ABBA01058536;ABBA01058537;AC007620;AF300648;AK001890;AK022599;AK091332;AK290571;AK297174;AK310009;AMYH01013687;BC000873;CH471052;NG_033163;NM_021629 AAG18442;AAH00873;ADQ32360;BAF83260;BAG50987;BAG59667;EAW78403;EAW78404;NP_067642;Q9HAV0 Hs.173030 1644976;1645583;1647835;1663616;1680791;1686082;1693562;1698714;2139828;2187343;5016478;5022578;5022651;5024756;5093270;5117897 A009K31;D11S2921;D1S1423;G32620;GDB:434012;GDB:631813;RH102917;RH48978;RH80030;RH80931;RH99053;SHGC-56395;SHGC-58470;STS-N54845;STS-R33145;WI-16393 CMTD1F G protein beta-4 subunit;OTTHUMP00000165227;OTTHUMP00000212176;guanine nucleotide binding protein beta subunit 4;guanine nucleotide-binding protein subunit beta-4;transducin beta chain 4 APPROVED protein-coding 20731 09973 610863;615185 REVIEWED 6769446 GNG12-AS1 GNG12 antisense RNA 1 1 p31.3 68297971 68668670 + 16344560;22504420;19801982;23871723 100289178 ABBA01074511;ABBA01074512;ABBA01074513;ABBA01074514;AK124028;AL157407;AL391703;AL513284;AMYH01000692;DB291468;NR_040077 BAC85755 Hs.677603 1649182;1652881;1682229;1688761;1693170;1708304;1712799;1717563;1722449;1777411;2133696;2137234;2146116;2146991;2146993;2148825;2149022;2181494;2185904 A004O04;A006C26;A006M39;AL034314;D1S1583;D1S3040;G09848;G16188;G20702;G60301;HSC2OB072;RH120114;RH122086;RH28305;RH64518;RH68355;RH92980;SHGC-57898;SHGC-79685 APPROVED miscrna ENSG00000232284 43938 VALIDATED 731985 GNB5 guanine nucleotide binding protein (G protein), beta 5 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] 15 15 q21.2 50200415 50270857 - 52413123 52483565 - 1580863;6480464;6893539;6484113;6907045 22074925 9606987;19376773;18094259;16867977;16381901;16169070;16135253;15489336;15489334;15474482;14702039;12477932;12119397;11675383;11256614;11230166;11076863;10644457;10521509;10339615;10051672;9789084;9315921;8910430;8636150;16884933;20374718;19773279;21511947;21832049;19322201;21900206 10681 H0YLU1;H0YNW7;O14775;Q96F32 ABBA01039065;ABBA01039066;AC010674;AC023906;AF017656;AF300650;AF501885;AK094776;AK125702;AK290330;AK314775;AL117471;AMYH01006650;AW967075;BC011671;BC013997;CH471082;NM_006578;NM_016194 AAC63826;AAG18444;AAH11671;AAH13997;AAM15921;BAF83019;BAG37312;BAG54236;CAB55946;CAL37903;EAW77436;EAW77437;EAW77438;EAW77439;EAW77440;EAW77441;EAW77442;EAW77443;EAW77444;NP_006569;NP_057278;O14775 Hs.155090 1658557;1694996;1695918;1699654;1773033;2108777;2164507;2167493;5014051;5037552 A003P09;D8S2278;D8S2279;G44711;GNB5_7978;RH103431;RH45294;SHGC-78877;STS-AA017518;STS-W49489 FLJ37457;FLJ43714;GB5 G protein, beta subunit 5L;G protein, beta-5 subunit;OTTHUMP00000162718;gbeta5;guanine nucleotide binding protein beta 5;guanine nucleotide-binding protein subunit beta-5;guanine nucleotide-binding protein, beta subunit 5L;transducin beta chain 5 APPROVED protein-coding ENSG00000069966 4401 09191 604447 REVIEWED 732554 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 9 9 p13.3 36204438 36248401 - 36214438 36277053 - 68786;704404;1580863;1300048;6480464;6907045;7240710 9305888 19917666;10330343;10334995;18029348;18815882;18698493;18653764;18560563;18373408;17718674;17704511;17698786;17597614;16847058;16810679;15987957;15833430;15748884;15670773;15489334;15342556;15164053;15146476;15136692;14972325;14707127;12927803;12921793;12913203;12811782;12743242;12612874;12497639;12477932;12473780;12473769;12473753;12409274;12325084;12177386;11916006;11749051;11528398;11326336;10431835;10356312;9305887;8889548;8789455;8439453;2808337;2443758;20059379;17118363;19841673;19845164;20175955;20300792;20346669;20301343;20301439;21131200;22863883;22883483;22507750;21708040;22349865;21584309;21910480;21868336;21963094;23000965;21139048;21906983;22049060;22343627;19322201;22196754;22231866 10020 F5H499;H0YFA7 ABBA01050431;ABBA01050432;ABBA01050433;AF051852;AF155663;AF317635;AJ238764;AK295562;AK296687;AK312539;AL158830;AL701451;AM697708;AM697709;AMYH01019348;AY531126;AY531127;AY531128;BC121179;BF197948;BM996750;BM999446;BP201585;BQ217959;CA503236;CH471071;DC416534;DC418354;EU093084;NG_008246;NM_001128227;NM_001190383;NM_001190384;NM_001190388;NM_005476 AAD32251;AAD38197;AAG31661;AAI21180;AAS59257;AAS59258;AAS59259;ABU55403;BAG35438;BAH12108;BAH12414;CAB42607;CAM91424;CAM91425;EAW58307;EAW58308;EAW58309;NP_001121699;NP_001177312;NP_001177313;NP_001177317;NP_005467;Q9Y223 Hs.5920 1298107;1340483;1675977;1687754;1752129;1772396;2159181;2159809;2173321;2183756;5014003;5015619;5015861;5015869;5016596;5020946;5020948;5021872;5022578;5024413;5037552;5109281;7185938 D10S16;D11S3114;D17S1136;D19S1166;D1S1423;D1S1425;D8S2279;D9S1794;G35510;GDB:313261;GDB:631802;L17877;L17971;RH66165;RH99177;SHGC-106091;SHGC-32868;SHGC-36161;SHGC-56681;SHGC-7278;STS-D25668;sY3084 DMRV;GLCNE;IBM2;NM;Uae1 N-acylmannosamine kinase;OTTHUMP00000021370;OTTHUMP00000239695;OTTHUMP00000239704;OTTHUMP00000239705;OTTHUMP00000239706;UDP-GlcNAc-2-epimerase/ManAc kinase;UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase;bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase APPROVED protein-coding ENSG00000159921 23657 04825 269921;600737;603824;605820 REVIEWED 733289 GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 5 5 q35.3 180596534 180603512 - 180663928 180670906 - 68785;5131491;6480464;6483358;6484113;6907045 8302854;18491053;19364912 7821789;11278757;12809483;19451233;19251694;19010305;19000751;18755685;18621736;18596232;18567578;18557705;18442364;18420585;18088317;18057008;17965024;17936896;17900862;17875659;17875644;17574549;17515463;17409124;17361105;17269730;17201176;17166942;17072338;16997272;16920332;16849317;16757810;16705158;16702786;16689683;16382134;16381901;16236267;16212959;16189514;16169070;16061178;15952740;15611085;15596539;15592455;15577927;15548575;15489336;15489334;15467455;15254245;15252133;15202772;15159402;14966116;14963031;14724252;14702039;14699138;14654845;14559993;12960323;12958311;12884273;12761493;12524444;12477932;12435334;12400005;12391233;12388589;12359736;11964397;11956211;11943848;11934885;11884618;11824616;11733189;11709417;11516626;11350068;11301323;11279199;11256614;11076863;11046044;10820259;10490850;10480917;10329691;9876970;9765275;9584165;9442085;8290562;8125298;7782277;2499885;1602151;1326322;11312657;18954305;11801604;12692135;10708423;12193273;22334666;18172692;21145461;21319273;22065575;19616115;22289149;22586326;20689807;12521306;17718421;19423701;19767770;19785988;19966859;20099848;20103773;19946739;20819076;20410295;20697360;20020495;20875397;19892429;20529362;16449650;16455055;19454010;20736409;15166316;20976005;20871634;20874815;10849009;20858845;21212275;20499158;21525958;17500595;22939629;17108144;17110338;19738201;19805454;21146485;21282530;21963094;21988832;22365833;22592183;23000965;23151878;23246001;23313748;23455922;23463506;23651062;23798571;16196087;17558393;21860413;19855191;20360068;21848913;22863883;17244529;21139048;22069327;22262830;21890473;21906983;22246531;22314363;21347310;18624398;18781797;19372219;20639865;21756811;21900206;21935400;21987572;22007921;16009940;17361185;22653060;22174419;22240482;21685945;22207523;22378065;22538239;23077236;22990118;15955845;19917775;22547057;21738584;22053931;22174317;22505724;22558273;22797925;22869111;23173782;22903704 10399 D6R909;D6R9L0;D6R9Z1;D6RAC2;D6RAU2;D6RBD0;D6RDI0;D6REE5;D6RF23;D6RFX4;D6RFZ9;D6RGK8;D6RHH4;D6RHJ5;E9KL35;E9PD14;H0Y8R5;H0Y8W2;H0Y9P0;H0YAF8;H0YAM7;J3KPE3;Q6FH47 ABBA01010097;AC008443;AK095666;AK222488;AK301029;AK301468;AK303316;AK310916;AMYH01015977;AY336089;BC000214;BC000366;BC010119;BC014256;BC014582;BC014788;BC017287;BC019093;BC019362;BC021993;BC029996;BC032006;BC035460;CH471165;CR456978;CR541909;D28398;GU727632;M24194;NM_006098 AAA59626;AAH00214;AAH00366;AAH10119;AAH14256;AAH14788;AAH17287;AAH19093;AAH19362;AAH21993;AAH32006;AAR24619;ABM82348;ABM85522;ADU87634;BAA05764;BAD96208;BAG53102;BAG62644;BAG62988;BAG64385;CAG33259;CAG46707;CAL38537;EAW53692;EAW53693;EAW53694;EAW53695;EAW53696;EAW53697;EAW53698;EAW53699;EAW53700;EAW53701;EAW53702;NP_006089;P63244 Hs.5662 1735428;1777284;2134091;2178366;5014019;5014051;5019761;5022200;5037552;5096317;5109281;5491780 10STS02;A009P44;D1S1425;D5S1561E;D5S2354;D8S2278;D8S2279;G32754;L18426;RH17921;SGC34615;WI-12627 Gnb2-rs1;H12.3;HLC-7;PIG21;RACK1 OTTHUMP00000223704;OTTHUMP00000223870;OTTHUMP00000223891;OTTHUMP00000223893;OTTHUMP00000223900;OTTHUMP00000223901;OTTHUMP00000223902;OTTHUMP00000223930;OTTHUMP00000223931;Receptor for Activated C Kinase 1;cell proliferation-inducing gene 21 protein;guanine nucleotide-binding protein subunit beta-2-like 1;guanine nucleotide-binding protein subunit beta-like protein 12.3;human lung cancer oncogene 7 protein;lung cancer oncogene 7;proliferation-inducing gene 21;protein homologous to chicken B complex protein, guanine nucleotide binding;receptor of activated protein kinase C 1 protein-coding ENSG00000204628 4399 01503 176981 VALIDATED 1606839 GNG10 guanine nucleotide binding protein (G protein), gamma 10 9 9 9 q31.3 84922924 84931584 + 113463682 113472347 + 114423851 114432526 + 6480464;6907045 20424519;7665596;12626323;15489334;15164053;12477932;17207965;17185339;12782285;19168127;19376773 2790 P50151 ABBA01042726;AF493877;AL135787;AMYH01021643;AW583403;BC010384;BC015206;BC016319;BC072671;BC107574;BG708408;CH471105;DB504443;NM_001017998;NM_001198664;U31383 AAC50205;AAH10384;AAH16319;AAH72671;AAI07575;AAM12591;ADQ32430;EAW59079;EAW59080;EAW59083;EAW59087;NP_001017998;NP_001185593;P50151 Hs.534196;Hs.732002 1678519;1777999;2172931;2179316;5019637 A002R12;G32289;RH12061;RH66959;WI-17453 OTTHUMP00000021914;guanine nucleotide binding protein 10;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 protein-coding ENSG00000242616 4402 604389 VALIDATED 735931 GNG11 guanine nucleotide binding protein (G protein), gamma 11 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008] 7 7 7 q21 88249318 88254128 + 93388952 93393762 + 93551016 93555826 + 1302231;1300048;6480464;6907045 7665596 12626323;17092487;16189514;15914563;15761153;15489334;12853948;12690205;12486123;12477932;10644457;9847074;16169070;12782285;19168127 2791 P61952;Q53Y01 AACC02000014;ABBA01045786;AC002076;AF493878;AK312037;AMYH01017695;BC009709;BG255463;BT007141;CH236949;CH471091;NM_004126;U31384 AAC50206;AAH09709;AAM12592;AAP35805;AAS02020;ABM82353;ABM85528;BAG34974;EAL24138;EAW76804;NP_004117;P61952 Hs.83381 1695044;1696872;2145544;2157440 G44752;G49181;RH18031;RH79142 GNGT11 G protein gamma-11 subunit;OTTHUMP00000162594;guanine nucleotide binding protein gamma subunit 11;guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 APPROVED protein-coding ENSG00000127920 4403 11979 604390 REVIEWED 1346549 GNG5P1 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1 6 6 q27 166573486 166574017 - 166653416 166654027 - 728411 1549114 2789 ABBA01015075;AL121956;AMYH01016848;NG_006561 GNG5P APPROVED pseudo 4409 INFERRED 1626539 GNG5P2 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2 X X X q23 110069307 110069825 - 109476427 109477057 - 109589683 109590201 - 15772651;10819326 347687 ABBA01043410;AF188178;AL031319;AMYH01022840;NG_002699;NG_016469 AAF04568 GNG5ps;dJ364I1.1 pseudo 24826 INFERRED 1626592 GNG5P3 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3 11 11 11 q23.1 108888148 108888640 + 111240141 111240552 + 111734929 111735421 + 100101932 ABBA01039812;AMYH01004031;AP001781;NG_006562;NG_009210 pseudo 33552 INFERRED 1626591 GNG5P4 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4 2 2 2 p13.1 73496406 73496889 + 73499064 73499462 + 73645556 73646039 + 100101933 ABBA01075580;AC074008;AMYH01010437;NG_006563;NG_011690 pseudo 33553 INFERRED 1626590 GNG5P5 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5 13 13 13 q14.2 28936982 28937406 + 46779252 46779595 + 47881251 47881675 + 22823124 100101935 ABBA01050996;AL354814;NG_006564 pseudo 33554 INFERRED 1350428 GNG3 guanine nucleotide binding protein (G protein), gamma 3 Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012] 11 11 p11 62231706 62233249 + 62475066 62476678 + 6480464;6907045 10075696;12626323;15489334;15314181;15078334;12486123;12477932;11294873;10819326;10644457;9003074;8636150;8550614;7822269;20534534;17185339;12782285;19168127;23326349;16344560;19376773 2785 P63215 ABBA01003240;AF075042;AF087900;AF092129;AF188177;AF493871;AK311933;AMYH01003690;AP001458;BC015563;CH471076;CK004020;DA123305;NG_008461;NM_012202 AAD40371;AAF04567;AAH15563;AAM12585;AAP97199;ABM82816;ABM86002;BAG34874;EAW74082;NP_036334;P63215 Hs.179915;Hs.740581 2139350;5106097 Gng3;RH12537 NBP gamma-3;OTTHUMP00000236158;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3;guanine nucleotide-binding protein gamma-3 subunit APPROVED protein-coding ENSG00000162188 4405 12337 608941 REVIEWED 1319444 GNG12 guanine nucleotide binding protein (G protein), gamma 12 1 1 1 p31.3 66458012 66589844 - 67939737 68071730 - 68167149 68299155 - 1580863;6480464;6907045 15078334;12782285;19168127;12626323;10819326;17081983;15489334;15342556;14702039;12486123;12477932;11714923;10931946;10409705;9003074;8125298;7493986;17185339;22939629;20360068;21139048;21890473;21906983;19376773 55970 Q69YP5;Q9UBI6 ABBA01074514;ABBA01074515;AF119663;AF123766;AF188181;AF365871;AF493879;AK055914;AK092014;AK223000;AK293101;AL049367;AL136120;AL391703;AL499611;AL832431;AMYH01000692;BC005940;BC013090;BP236225;BP236699;BU151184;BU620098;CH471059;FB775498;NM_018841 AAF04571;AAF17220;AAH05940;AAK53385;AAM12593;AAP97245;ADZ15663;BAD96720;BAF85790;CAH10645;CAV30706;EAX06484;EAX06485;EAX06486;NP_061329;Q9UBI6 Hs.744047 1335758;1340588;1657610;1663458;1666095;1678799;1721121;2149132;2170575;2172019;2187341 A002V40;AL009458;D1S2178;D1S2829;D1S368;G30943;G59545;RH68344;RH70081;RH94150;SHGC-34409 FLJ31352;FLJ34695 G-protein gamma-12 subunit;OTTHUMP00000011139;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 protein-coding ENSG00000172380 19663 13592 VALIDATED 1353997 GNG4 guanine nucleotide binding protein (G protein), gamma 4 1 1 1 q42.3 208954277 209057391 - 233777608 233880677 - 235710985 235814054 - 1302231;1580863;6480464;6907045 7665596 12626323;15824735;17903295;16344560;15489334;14702039;12486123;12477932;10644457;8636150;7782277;16884933;17185339;12782285;19168127;19376773 2786 B1APZ0;P50150 ABBA01033139;ABBA01033140;ABBA01033141;ABBA01033142;AF493872;AK074383;AK311781;AL390765;AL583844;AL672238;AL832564;AMYH01001848;AMYH01001849;AMYH01001850;BC022485;CH471098;CX784976;DA122711;DA230013;DB501745;FO393422;HI573886;HI573888;HI573890;NM_001098721;NM_001098722;NM_004485;U31382 AAC50204;AAH22485;AAM12586;BAG34724;CBX47432;CBX47433;CBX47434;EAW70030;EAW70031;NP_001092191;NP_001092192;NP_004476;P50150 Hs.159711 1692480;1692602;1714553;1763107;2114841;2145786;5015861;5015961;5022322;5024756;5037552;7185938 AL033891;AL033937;D10S16;D11S2560;D15S1477;D8S2279;RH119790;RH46940;RH80030;SHGC-146840;SHGC-35584 DKFZp547K1018;FLJ23803;FLJ34187 OTTHUMP00000038436;OTTHUMP00000038437;guanine nucleotide binding protein 4;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 protein-coding ENSG00000168243 4407 11978 604388 VALIDATED 1318585 GNG13 guanine nucleotide binding protein (G protein), gamma 13 Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009] 16 16 16 p13.3 1047927 1050619 - 788042 790734 - 848041 850733 - 1580863;6480464;6907045 12782285;19168127;12626323;16473877;16344560;15616553;15489334;15078334;12486123;12477932;12454992;11675383;11157797;10570481;8889548;20660057 51764 Q9P2W3 AB030207;ABBA01030343;AE006465;AF493880;AK312139;AL031033;AMYH01007009;AY029486;BC093760;BC095525;BM931126;CH471112;DA111448;NM_016541 AAH93760;AAH95525;AAK40269;AAK61257;AAM12594;BAA92768;BAG35075;EAW85702;EAW85703;NP_057625;Q9P2W3 Hs.247888 2220588 UniSTS:485658 G(gamma)13;h2-35 G gamma subunit, clone:h2-35;OTTHUMP00000045507;guanine nucleotide binding protein 13, gamma;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 APPROVED protein-coding ENSG00000127588 14131 12116 607298 VALIDATED 736477 GNG2 guanine nucleotide binding protein (G protein), gamma 2 This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011] 14 14 q21 51396800 51506268 + 52327022 52436518 + 1580863;6480464;6484113;6907045 12626323;18029348;18045877;17492941;16344560;16099817;15761153;15747776;15489334;15105422;14702039;14512443;12853961;12527722;12486123;12477932;11698416;11483580;11294873;10833460;10744734;10518015;9286705;9238069;9063897;9009193;8636150;7972043;7782277;15889144;15782186;10339615;12782285;19168127;22065575;19913121;20628086;11196645;12507995;15451670;15611108;16102047;16418336;16892066;18240029;18577758;20007712;7624799;8208289;8290554;8521505;9152406;11313909;20181083;22957104;21679469;20133939;23031273;23548203;18729826;19376773;9789084;22505724 54331 G3V2C9;G3V2N0;G3V2W5;G3V3J9;G3V415;P59768 AB074180;ABBA01018158;ABBA01018159;ABBA01018160;ABBA01018161;AF130106;AF493870;AK001024;AK026424;AK026425;AK092371;AK307171;AL358333;AL832878;AMYH01005728;BC020774;BC041446;BC060856;BE245271;BQ025819;CH471078;DA226565;DA322879;DA785895;DC318652;NM_001243773;NM_001243774;NM_053064 AAG35531;AAH20774;AAH60856;AAM12584;CAI46198;EAW65663;EAW65664;EAW65665;NP_001230702;NP_001230703;NP_444292;P59768 Hs.187772;Hs.709082;Hs.723399;Hs.741081 1665174;1667612;1700904;1716501;1739409;1857101;2130334;2159297 D14S769;D14S812E;D14S886;D14S896;G29171;RH104079;RH121536;WI-22143 OTTHUMP00000245055;OTTHUMP00000245056;OTTHUMP00000245057;OTTHUMP00000245058;OTTHUMP00000245059;g gamma-I;guanine nucleotide binding protein gamma 2;guanine nucleotide binding protein, gamma 2;guanine nucleotide-binding protein G(I)/G(O) gamma-2 subunit;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 APPROVED protein-coding ENSG00000186469 4404 16234 606981 REVIEWED 737441 GNG5 guanine nucleotide binding protein (G protein), gamma 5 G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010] 1 1 1 p22 83208179 83216434 - 84736680 84744831 - 84964006 84972262 - 1300048;6480464;6907045 10819326;12626323;9790912;16710414;16341674;15489334;12665801;12486123;12477932;11042152;9653160;8636150;7606925;1549114;12782285;19168127;3113327;17185339;20877624;21139048;21890473;21906983;19376773;22505724 2787 P63218 ABBA01045654;AF038955;AF085709;AF493873;AK312111;AL359762;AMYH01000752;BC003563;BM809260;BM834854;BT006823;CH471097;NM_005274 AAC39869;AAC72203;AAH03563;AAM12587;AAP35469;BAG35047;EAW73236;NP_005265;P63218 Hs.645427 FLJ92393 OTTHUMP00000011474;OTTHUMP00000011565;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 APPROVED protein-coding ENSG00000174021 4408 11865 600874 VALIDATED 735730 GNG8 guanine nucleotide binding protein (G protein), gamma 8 19 19 19 q13.32 43940858 43941464 - 51829173 51829779 - 47137333 47137939 - 1580863;6480464;6907045 12782285;10819326;12626323;15489334;12486123;12477932;19913121;20628086;17185339;19376773 94235 Q9UK08 ABBA01040981;AC093503;AF188179;AF493875;AMYH01009868;BC095514;CH471126;NM_033258 AAF04569;AAH95514;AAM12589;EAW57434;NP_150283;Q9UK08 Hs.283961 g-protein gamma 8 subunit;gamma-9;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 protein-coding ENSG00000167414 19664 13593 PROVISIONAL 1351801 GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM, Mar 2008] 7 7 q21.3 93373756 93378421 + 93535820 93540485 + 6480464;6893539;6907045 22074925 8661128;17548351;17110384;15901556;15489334;15368366;12853948;12690205;12486123;12477932;10636894;10585447;10360181;8636150;8500562;7665596;6438626;1706334;20098747;20048162;17185339;12782285;19168127;22065575;22424883;9789084 2792 C9JGI9;P63211 AACC02000014;ABBA01045787;AC002076;AF493869;AMYH01017695;BC029367;CH236949;CH471091;CR456912;NM_021955;S62026;S62027;U41492;U41493 AAB26896;AAB92386;AAB92387;AAD13931;AAH29367;AAM12583;AAS02021;ABM83486;ABM86701;CAG33193;EAL24139;EAW76805;EAW76806;NP_068774;P63211 Hs.732212 1666345;1857293 D7S2775;GDB:6028515 GNG1 OTTHUMP00000162593;OTTHUMP00000208599;guanine nucleotide-binding protein G(T) subunit gamma-T1;transducin gamma chain APPROVED protein-coding ENSG00000127928 4411 01805 189970 VALIDATED 1348974 GNG7 guanine nucleotide binding protein (G protein), gamma 7 19 19 19 p13.3 2448700 2582967 - 2462218 2653746 - 2511218 2702746 - 1580863;6480464;6907045 12626323;9600093;18219292;16344560;15489334;15057824;14702039;12477932;11181995;8636150;16169070;8308009;20543539;20379614;17185339;22183866;21139048;21906983;12782285;19168127;19376773 2788 K7ESC6;O60262 AB010414;ABBA01002745;ABBA01002746;ABBA01002747;ABBA01002748;ABBA01002749;ABBA01002750;ABBA01002751;ABBA01002752;ABBA01002753;ABBA01002754;ABBA01002755;ABBA01002756;ABBA01002757;ABBA01002758;ABBA01002759;ABBA01002760;ABBA01002761;ABBA01002762;ABBA01002763;AC005512;AC005756;AC006538;AC092068;AC104432;AC104537;AF493874;AK024465;AK123863;AK311750;AMYH01009284;AMYH01009285;AMYH01009286;AMYH01009287;AMYH01009288;AMYH01009289;AMYH01009290;BC010463;BC014466;BC037318;BC053630;CH471139;DA106844;DA247608;NM_052847 AAC32595;AAH14466;AAH53630;AAM12588;BAA28348;BAB15755;BAG34693;EAW69374;NP_443079;O60262 Hs.515544;Hs.735237 1341825;1646172;5015619;5016596;5022425;5022578;5037552;5128123 D11S3114;D19S565;D1S1423;D1S3035;D22S296;D8S2279;GDB:631802;SHGC-153161 FLJ00058 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 protein-coding ENSG00000176533 4410 07638;10376 604430 VALIDATED 1346519 GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] X X X p11.22 58389207 58426283 + 54573369 54608698 + 54556644 54593720 + 737633;1580863;6480464;6907045 12477932 17034816;16251348;16189514;14702039;21132010;21063916;18029348;19487455;21139048;21906983;21963094;19322201;16396496;22505724;22797925 54552 Q05DU1;Q9NVN8 ABBA01069609;ABBA01069610;ABBA01069611;ABBA01069612;ABBA01069613;AK001475;AK022325;AK128277;AL391139;AMYH01022432;BC003603;BC011720;BC022829;BQ674906;CH471154;HI574280;NG_021314;NM_001184819;NM_019067 AAH03603;AAH11720;BAA91712;CBX47629;EAW93182;EAW93183;EAW93184;EAW93185;NP_001171748;NP_061940;Q9NVN8 Hs.654677 1644132;1652807;1676422;1677350;1688554;5015619;5015961;5016478;5016596;5021367;5037552 D11S3114;D12S1334;D15S1477;D6S1233E;D8S2279;GDB:434012;GDB:631802;RH26312;RH80726;SHGC-32184;WI-19377 FLJ10613;RP11-353K22.1 OTTHUMP00000023374;OTTHUMP00000023375;guanine nucleotide-binding protein-like 3-like protein;novel GTPase APPROVED protein-coding 25553 06514 300873 REVIEWED 1352530 GNL1 guanine nucleotide binding protein-like 1 The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32107271 32123489 - 30621673 30632987 - 30509154 30525371 - 1580863;6480464 8180467;17525332;16702430;12477932;8889548;14702039;16344560;19851445;19912639;16341674;18255255;22863883;22939629;20360068;21139048;21890473;22244851;22145905;23000965 2794 A2AB27;A8MPZ0;B0V0L0;B0V0L1;B4DWZ0;B4DYK6;P36915 AB103601;AB202092;ABBA01038049;AI433804;AK026391;AK095071;AK293596;AK298042;AK301738;AK302480;AK316391;AL662800;AL662822;AL662825;AL831892;AL831942;AMYH01016205;BA000025;BC006343;BC013959;BC018366;BC063657;BM833876;BQ188153;BT006648;BU687484;BX000357;BX248518;BX927220;CH471081;CR388372;CR759912;CR847863;CR936927;DA044212;L25665;NM_005275 AAA66492;AAH13959;AAH18366;AAH63657;AAP35294;ABM81689;ABM84852;ABM87095;BAB63327;BAE78611;BAF31262;BAG57062;BAG60340;BAG63202;BAG63768;BAH14762;EAX03294;EAX03295;NP_005266;P36915 Hs.118354;Hs.83147 1654882;1696104;1770968;1786126;2119519;2122411;2165552 2186;RH46605;RH46746;SHGC-172549;SHGC-79132;WI-13727;WI-17348 DKFZp547E038;DKFZp547E128;FLJ37752;HSR1 GTP-binding protein HSR1;HSR1 GTP-binding protein;OTTHUMP00000029186;guanine nucleotide-binding protein-like 1 APPROVED protein-coding ENSG00000204590 4413 00879 143024 VALIDATED 1343902 GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 17 q21 43738075 43741222 - 44638596 44641742 - 47283596 47287936 - 1580863;6480464;6893539;6907045 22074925 9286705;18729826;16973746;15489334;12743112;12486123;12477932;11714923;9108307;8943291;8889548;8636150;17207965;10570481;16344560;17185339;19168127;19376773 2793 D6RDH5;O14610 ABBA01041192;AC069454;AF001158;AF001159;AF001160;AF365870;AF493876;AI857683;AK312839;AMYH01008460;BC008663;BM723861;BU742490;CH471109;DA248836;NG_009841;NM_001198754;NM_001198755;NM_001198756;NM_031498 AAB70039;AAH08663;AAK53384;AAM12590;ADQ33186;BAG35693;EAW94688;EAW94689;NP_001185683;NP_001185684;NP_001185685;NP_113686;O14610 Hs.181781 1670662;2162703 SGC30727;STS-AA016200 G-GAMMA-8;G-GAMMA-C;GNG8;GNG9;GNGT8 G protein cone gamma 8 subunit;G-gamma-9;OTTHUMP00000220018;OTTHUMP00000220019;OTTHUMP00000220020;OTTHUMP00000220021;OTTHUMP00000220022;g gamma-C;gamma-T2 subunit;guanine nucleotide binding protein gamma 9;guanine nucleotide binding protein gamma transducing activity polypeptide 2;guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 APPROVED protein-coding ENSG00000167083 4412 06792 139391 REVIEWED 1343978 GNL2 guanine nucleotide binding protein-like 2 (nucleolar) 1 1 1 p34.3 36310401 36339576 - 37805004 37834083 - 38032413 38061586 - 1580863;6480464;6907045 21832049;8822211;17353931;17081983;15635413;15489334;12477932;12429849;11790298;21145461;19615732;18029348;21182205;19471022;21906983;22586326 29889 H0YG10;Q13823;Q5T0F3 AA766044;ABBA01023272;ABBA01023273;AK130697;AK298358;AK307352;AK312915;AL034379;AL513220;AMYH01000501;BC000107;BC009250;CH471059;DB452094;L05425;NM_013285 AAC37588;AAH00107;AAH09250;ABM83109;ABW03493;BAG35761;BAG60601;EAX07333;NP_037417;Q13823 Hs.75528 2171918;5015861;5037552;5126071;7185938 D10S16;D8S2279;RH71352;SHGC-74625 FLJ40906;HUMAUANTIG;NGP1;Ngp-1 OTTHUMP00000004517;autoantigen NGP-1;novel nucleolar guanosine 5'-triphosphate binding protein autoantigen;nucleolar G-protein gene 1;nucleolar GTP-binding protein 2;nucleolar GTPase protein-coding ENSG00000134697 29925 11006 609365 VALIDATED 2291823 GNPATP glyceronephosphate O-acyltransferase pseudogene 16 16 16 q21 45192636 45195257 - 59245640 59248137 - 60688013 60690634 - 100130060 ABBA01025337;AC018555;AMYH01007722;NG_007472 pseudo 34031 INFERRED 1606313 GNL3 guanine nucleotide binding protein-like 3 (nucleolar) The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 3 3 p21.1 52694976 52703553 + 52719936 52728513 + 6480464;6907045 15489334;15112336;14702039;14648588;12477932;12464630;12429849;11790298;11085516;16169070;19416921;19367581;19106111;19033382;18519946;18448670;18426907;18419830;17494866;17310849;17000763;17000083;16670719;16282439;16097049;16012751;15857956;15657390;15595646;21145461;22081066;17353931;18646696;19648109;19706044;19823871;20021940;19454010;20664182;20572164;21045149;20431927;21242306;21182205;19379559;21443540;22939629;21655359;21132010;22174890;12777385;19487455;19596686;20360068;21892090;21903422;21730156;22045740;22050045;22318725;21926972;22479202;19471022;21907836;21628590;22641345;22763110;21139048;21906983;22586326;21988832;22751105;23000965;23092984;23537643;22505724;22944692 26354 B4DMU5;C9JYH9;C9JZT7;Q9BVP2 ABBA01024500;AC104446;AF191018;AI028402;AK027514;AK027516;AK315484;AMYH01013188;AY825265;BC001024;BF732788;CF272475;CH471055;NG_027871;NM_014366;NM_206825;NM_206826 AAF09482;AAH01024;AAV74413;ACE86724;ACE87410;BAB55168;BAB55169;BAG37868;EAW65249;EAW65250;EAW65251;EAW65252;NP_055181;NP_996561;NP_996562;Q9BVP2 Hs.313544 1645021;1647842;1682271;2168196 D3S2852E;IB223;RH12841;RH25508 C77032;E2IG3;MGC800;NNP47;NS E2-induced gene 3 protein;NNP47;OTTHUMP00000213382;OTTHUMP00000213383;estradiol-induced nucleotide binding protein;guanine nucleotide-binding protein-like 3;novel nucleolar protein 47;nucleolar GTP-binding protein 3;nucleostemin APPROVED protein-coding ENSG00000163938 29931 06419 608011 REVIEWED 1605036 GNL3LP1 guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1 5 5 5 q12.1 57128580 57130566 - 60223163 60225237 - 60187503 60189489 - 6480464 14702039;12477932;21906983 80060 ABBA01015806;AC104113;AMYH01015111;NG_005649;NG_009289 2151064;2220548 RH66055;UniSTS:484387 FLJ12595;GNL3LP APPROVED pseudo 25733 07781 INFERRED 1346016 GNPTA glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase (mucolipidoses II and III) 7240710 2795 4418 252500;252600 1342846 GNLY granulysin The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 p11.2 85774925 85779386 + 85921414 85925875 + 1580863;6480464 9756476;2212946;19258923;19243819;19111751;19106590;19029983;18688023;18584314;18490721;18192122;17703412;17596262;17038537;16980658;16344560;15843520;15778384;15489334;15223905;12884856;12626573;12488100;12483306;12477932;12421959;12145461;11418670;10644038;10449094;9194222;9058801;8423048;2434598;2209093;22788687;19454696;19687290;19861007;20237496;20503287;20660289;20889547;21296981;21832049;21501511;21623991;21819408;22216262;22045985;22586033;22890551 10578 B4E3H9;H0YDW8;P22749 A00142;A07389;AA883466;ABBA01075767;AC012454;AK296106;AK304728;AK308781;AK310057;AK311012;AK311537;AK311538;AK311657;AMYH01010497;BC023576;BC063245;CH471053;CR541859;DA932688;GN344067;M85276;NM_006433;NM_012483;X05044;X54101 AAA59935;AAH23576;ABM83193;ABM86394;BAG58856;BAG65491;CAA00015;CAA00661;CAA28715;CAA38035;CAG46657;CAY55969;EAW99483;EAW99484;EAW99485;EAW99486;NP_006424;NP_036615;P22749 Hs.105806 2129277;5022450 D10S275;STS-M85276 519;D2S69E;LAG-2;LAG2;NKG5;TLA519 OTTHUMP00000160682;OTTHUMP00000203266;OTTHUMP00000229037;OTTHUMP00000229039;T-cell activation protein 519;T-lymphocyte activation gene 519;granulysin;lymphocyte-activation gene 2;lymphokine LAG-2 APPROVED protein-coding ENSG00000115523 4414 01788 188855 REVIEWED 732912 GNMT glycine N-methyltransferase The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. The encoded protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). [provided by RefSeq, Oct 2008] 6 6 p12 43036478 43039596 + 42928500 42931618 + 1300048;1580863;6480464;6907045;7240710;7242425;7242551 23073625;22342103 21411609;10843803;19439180;19161160;19146867;19048631;19035462;18624901;17660255;17332283;16317120;16189514;15489334;14739680;14651980;12697024;12566309;12477932;11810299;11596649;9495250;9261130;6157075;2722853;20634891;15340920;18029348;22807109;22264868;21691217;21988832;22850906;21572396;21044950;22160218;22183894;22415010 27232 Q14749 ABBA01050702;AF101475;AF101477;AL158815;AMYH01016309;AMYH01016310;BC032627;CH471081;NG_008396;NM_018960;X62250 AAF78289;AAF78290;AAH32627;ABM81745;ABM84900;CAA44164;EAX04123;EAX04124;NP_061833;Q14749 Hs.144914 1739675;1790341;2136945;2180222 D6S1532E;GNMT;STS-D20352;STS-U56602 OTTHUMP00000016412;glycine N-methyltransferase APPROVED protein-coding ENSG00000124713 4415 05970 606628;606664 REVIEWED 1313596 GNPDA2 glucosamine-6-phosphate deaminase 2 The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 4 4 4 p12 45152192 45176638 - 44398925 44423369 - 44703812 44728651 - 1580863;6480464;6907045 18029348;19164386;19079261;14702039;12965206;12477932;20571754;20816195;19692490;19746409;19812171;19851340;19910641;19910938;20215397;20520848;20712903;20724581;20725061;20816152;20843981;20935630;17207965;22863883;21139048;21890473;21906983;15342556;21147891;21248185;21369819;21544081;21593506;21773002;21779088;21796137;21796141;21912638;21935397;22029802;22083549;22179955;22344219;22456663;22511254;22710927 132789 Q8TDQ7 AB209904;ABBA01014312;AC096586;AF247786;AK055639;AK296051;AL834506;AMYH01014144;AY173948;BC015532;BP274548;BQ021991;CH471069;HY163015;HY180477;NM_001270880;NM_001270881;NM_138335;NR_073094;NR_073095 AAH15532;AAL95691;AAO49718;ADQ31863;BAB70977;BAD93141;BAG58815;CAD39163;EAW93019;EAW93020;NP_001257809;NP_001257810;NP_612208;Q8TDQ7 Hs.21398;Hs.619562;Hs.741325 1664803;1773296;1785022;2114581;2149605;2174727 D4S1248;G33944;SHGC-149837;SHGC-59695;SHGC-59698;WI-13892 GNP2;SB52 4921523I18Rik;GNPDA 2;OTTHUMP00000125263;OTTHUMP00000218298;OTTHUMP00000219325;OTTHUMP00000219326;glcN6P deaminase 2;glucosamine-6-phosphate isomerase 2;glucosamine-6-phosphate isomerase SB52;putative glucosamine-6-phosphate isomerase APPROVED protein-coding ENSG00000163281 21526 13594 613222 REVIEWED 1353704 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010] 16 16 p13.3 1341933 1353353 + 1401900 1413352 + 737633;1599045;1580863;6480464 12477932;10712439 15231747;19370764;18029348;15616553;15498874;15489334;12107412;11157797;3019310;17213182;19659762;19708128;19955174;20034096;20147709;20301784;20951619;21906983;22884963 84572 E9PQQ5;H0YEA7;Q9UJJ9 AA513392;ABBA01030310;AE006467;AF302786;AK126110;AK312067;AL031709;AMYH01007032;AY203933;BC014592;BC131525;BU145878;BX398427;CD671181;CH471112;DT219524;NG_016985;NM_032520 AAG27706;AAH14592;AAI31526;AAK61277;AAP34456;ABM81753;ABM84907;BAG35003;EAW85666;EAW85667;EAW85668;NP_115909;Q9UJJ9 Hs.241575 1670734;1670736;1793778;1793780;5016700;5037552;5493467 D8S2279;PMC289169P1;PMC289169P2;RH11799;RH79802;SHGC-61167;UniSTS:486590 C16orf27;GNPTAG;LP2537;RJD9 N-acetylglucosamine-1-phosphotransferase subunit gamma;OTTHUMP00000045503;UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma;glcNAc-1-phosphotransferase subunit gamma;n-acetylglucosamine-1-phosphotransferase, gamma subunit APPROVED protein-coding ENSG00000090581 23026 06384 607838 REVIEWED 733936 GNPAT glyceronephosphate O-acyltransferase This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. [provided by RefSeq, Jul 2008] 1 1 q42 229443605 229480156 + 231376919 231413719 + 704404;1580863;6480464;6907045;7240710 9459311;9536089;10215861;16997000;16710414;15687349;15489334;14702039;12477932;11237722;11152660;10456321;9110174;8619474;8186247;8125298;6528320;2804060;16756494;16169070;22990118;21990100;21525035;21988832;22002062;23000965;15604093;21139048;21890473;20178365 8443 B4DNM9;O15228;Q5TBH6;Q5TBH8 AB209882;ABBA01033034;ABBA01033035;ABBA01033036;AF035285;AF043937;AF218233;AJ002190;AK222773;AK223304;AK297982;AK309994;AK311386;AK314181;AL117352;AL137801;AMYH01001819;BC000450;BE222957;CH471098;NG_008240;NM_014236 AAB88177;AAC24505;AAG17547;AAH00450;BAD93119;BAD96493;BAD97024;BAG36862;BAG60291;CAA05242;EAW69953;NP_055051;O15228 Hs.498028 1771479;2115553;2115555;2126905;2142826 A002B05;AL009359;D1S1888E;G19874;SHGC-57628 DAP-AT;DAPAT;DHAPAT DHAP-AT;OTTHUMP00000036147;OTTHUMP00000036148;acyl-CoA:dihydroxyacetonephosphateacyltransferase;acyl-coa:dihydroxyacetonephosphate acyltransferase;dihydroxyacetone phosphate acyltransferase;glycerone-phosphate O-acyltransferase APPROVED protein-coding ENSG00000116906 4416 04120 222765;602744 REVIEWED 1343814 GNRHR2 gonadotropin-releasing hormone (type 2) receptor 2 In non-hominoid primates and non-mammalian vertebrates, the gonadotropin releasing hormone 2 receptor gene (GnRHR2) encodes a seven-transmembrane G-protein coupled receptor. However, in human, the corresponding reading frame contains a premature stop codon, which has been suggested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013] 1 1 q12 144221177 144227433 - 145509820 145516076 - 1580863;6480464 19086053;16754659;19453261;17296196;16406723;16189182;15761034;12538601;12444048;11861490;11707068;11352653;10396028;18577758;18240029;20398908;19657181;20630060 114814 F8WBV1;Q96P88 AB239331;ABBA01005742;AC243547;AF403014;AK310736;AL160282;AMYH01001373;AY077708;AY081843;AY233132;AY233133;DQ266410;NR_002328;NR_104033;NR_104034 AAL27000;AAL89821;AAP74658;ABB82942;BAF35581;Q96P88 Hs.356873;Hs.711567 1645734;1661843;1662793;1678441;1682493;1683068;1794784;2141608;2158585 A008J33;Bdaa5e06;G19805;PMC55504P1;RH10610;RH80039;SHGC-75413;WI-19788;WI-22172 GnRH-II-R APPROVED pseudo 16341 11780 612875 VALIDATED 4890150 GNRHR2P1 gonadotropin-releasing hormone (type 2) receptor 2 pseudogene 1 14 14 q23.1 40915652 40916842 - 60865541 60866731 - 11013075;11707068 404718 AF403013;AL132778;AMYH01005766;NG_003256 1678441;1682493;2158585 A008J33;Bdaa5e06;RH80039 pseudo 39424 INFERRED 1349274 GNPDA1 glucosamine-6-phosphate deaminase 1 Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010] 5 5 q21 141360420 141372776 - 141380234 141392620 - 1580863;6480464;6907045 9438414;9714720;18029348;16344560;16189514;15489334;15372022;14702039;12965206;12616532;12477932;10964516;8747459;7584044;7577655;17207965;21139048;21890473;21906983;21807125;22863883 10007 B7Z3X4;D6R917;D6R9P4;D6RAY7;D6RB13;D6RFF8;D6RFK5;E7EVU7;P46926 ABBA01026392;AC005740;AF029914;AF035809;AF048826;AJ002231;AK022779;AK290686;AK296452;AMYH01015662;BC001717;BC012853;BC020769;BC022322;BC024664;CA432951;CH471062;D31766;DA661926;NM_005471 AAB84217;AAB88748;AAC05123;AAC62119;AAH12853;AAH20769;AAH22322;ADQ32271;BAA06544;BAF83375;BAG51114;BAH12360;CAA05259;EAW61890;EAW61891;EAW61892;EAW61893;NP_005462;P46926 Hs.633853 1857163;2133416;2165738;2181304 D5S1636E;D5S2437;D5S2481;RH25293 GNP1;GNPDA;GNPI;GPI;HLN;KIAA0060 GNPDA 1;OTTHUMP00000160062;OTTHUMP00000222767;OTTHUMP00000222768;OTTHUMP00000222769;OTTHUMP00000222770;OTTHUMP00000222771;OTTHUMP00000222773;OTTHUMP00000222774;OTTHUMP00000222775;glcN6P deaminase 1;glucosamine-6-phosphate isomerase 1;oscillin APPROVED protein-coding ENSG00000113552 4417 09048 601798 VALIDATED 1351197 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 14 14 14 q22.1 33291588 33308063 - 52311661 52328133 - 53241911 53258386 - 1625539;1580863;6480464;6907045 15466941 15489334;14702039;12477932;9972309;18675810;20639865;21139048;22053931 64841 G3V4W4;G3V5E4;Q96EK6 ABBA01018169;ABBA01018170;ABBA01018171;AK001469;AK025575;AK090577;AL139317;AMYH01005731;BC012179;BG717628;BQ182796;CA435370;CA489597;CH471061;NM_198066 AAH12179;BAC03482;EAW80614;EAW80615;EAW80616;EAW80617;NP_932332;Q96EK6 Hs.478025 1664006;1679065;1686989;2121768;2124896;2140215;5015961 D14S1308;D15S1477;RH44742;RH93777;RH99190;SHGC-37165;STS-Z40984 FLJ10607;GNPNAT;Gpnat1 OTTHUMP00000178996;OTTHUMP00000245251;OTTHUMP00000245252;glucosamine 6-phosphate N-acetyltransferase;phosphoglucosamine acetylase;phosphoglucosamine transacetylase protein-coding ENSG00000100522 19980 17046 VALIDATED 1603959 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010] 12 12 q23.2 100663408 100748763 - 102139275 102224645 - 6480464;7240710 19617216;19197337;18190596;16835905;16630736;16465621;16299590;16200072;16120602;16116615;16094673;15489334;14702039;12477932;12168954;10574462;15342556;19634183;19659762;20147709;20379614;20489197;20301728;20301730;21832049;20944643;22884963;23192343;21549105;20880125;21988832;17043677;21890473;23566849 79158 F8VQW2;F8W1L9;H0YIE6;H0YIK3;H0YIU2;Q3T906;Q9BUA5 AB033034;ABBA01053236;ABBA01053237;AC063950;AI418963;AI479646;AK001821;AK056137;AL359588;AL832172;AM085438;AMYH01004703;AY687932;BC002779;BC042615;BC071687;BC094884;BC131787;BP276948;BU754017;CH471054;CR749871;NG_021243;NM_024312 AAH02779;AAH42615;AAH71687;AAH94884;AAI31788;AAV98624;BAA86522;BAA91926;BAB71102;CAB94874;CAH18711;CAJ30014;EAW97682;EAW97683;EAW97684;NP_077288;Q3T906 Hs.46850 1663087;1687740;1700342;1772538;1856490;2132481;2132483;2165126;2184737;5015619;5018005;5018007;5022578;5022651;5022849;5022851;5095269;5095271;5095273;5095275;5095277;5095279;5095281;5095283;5095285;5095287;5095289 A002C44;D11S2921;D11S3114;D12S1910;D12S1917;D1S1423;G19942;GNPTAB_exon_1;GNPTAB_exon_11;GNPTAB_exon_12;GNPTAB_exon_13;GNPTAB_exon_14/15;GNPTAB_exon_16;GNPTAB_exon_17/18;GNPTAB_exon_19;GNPTAB_exon_2;GNPTAB_exon_20;GNPTAB_exon_21;GNPTAB_exon_3/4;GNPTAB_exon_5;GNPTAB_exon_6/7;GNPTAB_exon_8/9/10;RH103791;RH11237;RH99242;SHGC-31878;STS-N35222 DKFZp762B226;GNPTA;ICD;KIAA1208;MGC4170 GlcNAc phosphotransferase;N-acetylglucosamine-1-phosphotransferase subunits alpha/beta;OTTHUMP00000243820;UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta;UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine;glcNAc-1-phosphotransferase subunits alpha/beta;glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase;stealth protein GNPTAB APPROVED protein-coding ENSG00000111670 29670 11350 252500;252600;607840 REVIEWED 5508552 GOLGA2P1 golgin A2 pseudogene 1 8 q21.3 87669612 87672517 - 100418751 ABBA01037365;AC013751;AMYH01018860;NG_026050 pseudo 31052 INFERRED 1343463 GOLGA2P2Y golgin A2 pseudogene 2, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.23 10526470 10531334 - 24765502 24770366 - 26356114 26360978 - 12815422 84559 AC012005;AF332229;NG_004755;NG_017010;NR_001555 AAK13481 Hs.531603;Hs.745571 GOLGA2LY;GOLGA2LY1;GOLGA2P2 golgi autoantigen, golgin subfamily a, 2-like, y-linked APPROVED pseudo ENSG00000172332;ENSG00000239533 16479 400035 REVIEWED 1603462 GOLGA2P3Y golgin A2 pseudogene 3, Y-linked There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y q11.223 26010846 26015710 + 27601458 27606322 + 12815422 401634 Q96RM8 ABBA01030398;AC006328;AF332229;NG_004755;NR_002195 AAK13481 Hs.531603;Hs.742602 GOLGA2LY2;GOLGA2P3 APPROVED pseudo ENSG00000172297 32426 VALIDATED 6481590 GOLGA2P4 golgin A2 pseudogene 4 22 43180465 43180572 + 100873742 ABBA01017924;AL049757;AMYH01012823;NG_032207 pseudo 38600 INFERRED 1347634 GNRH2 gonadotropin-releasing hormone 2 The protein encoded by this gene is a preproprotein that is cleaved to form a secreted 10 aa peptide hormone. The secreted decapeptide regulates reproduction in females by stimulating the secretion of both luteinizing- and follicle-stimulating hormones. Three transcript variants that encode unique proproteins but the same peptide hormone have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 p13 2972268 2974391 + 3024268 3026391 + 1580863;6480464;6907045 17202595;15578334;15562029;15489334;15001648;14726258;12969578;12770744;12663744;12477932;12447356;11931351;11889221;11861490;11780052;11459794;1727812;9419371;19086053;19064572;18599546;18477660;18467526;17914092;17451432;17296196;16754659;19453261;19608641;20018426;20379614;21239435;21832049;21193558 2797 O43555;Q9HBX7 ABBA01053804;AF036329;AF036330;AF190640;AL121905;AMYH01011672;BC069362;BC115399;BC115400;BF061974;BF062277;CH471133;NM_001501;NM_178331;NM_178332 AAC02980;AAC02981;AAG17539;AAH69362;AAI15400;AAI15401;EAX10557;EAX10558;EAX10559;NP_001492;NP_847901;NP_847902;O43555 Hs.129715 GnRH-II;LH-RHII OTTHUMP00000030075;OTTHUMP00000030076;OTTHUMP00000030077;OTTHUMP00000030078;luliberin II;luteinizing hormone-releasing hormone II;progonadoliberin II;progonadoliberin-2 APPROVED protein-coding ENSG00000125787 4420 03830 602352 REVIEWED 737339 GNRHR gonadotropin-releasing hormone receptor This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 q21.2 68285688 68304399 - 68603093 68621804 - 1580863;704404;6480464;6907045;7240710 11997175;11994356;11981042;11397871;11397842;11318785;11278883;10999776;10523035;10366411;10084584;10022417;9425890;9414473;9371856;9272108;9259321;8472841;7958384;7768323;7613048;7534732;1333190;12040003;8386108;10686191;19489874;19453261;19449676;19246515;19190109;19095769;19086053;19064572;18980792;18682503;18541137;18463157;18356273;18252959;17942747;17710733;17452338;17179725;17170088;16968799;16613990;16364974;16359986;16322390;16301116;16213849;15886197;15761034;15563546;15546906;15529183;15489334;15149726;15105440;14726258;14565958;14551223;12947046;12843188;12788881;12679486;12568864;12477932;12446597;12161512;12089350;12062898;12054603;12050282;20634197;16754659;20628612;20507982;20400076;20670943;22724017;18240029;19372239;19640273;19724914;19787259;19858197;20182875;20236028;20734064;21330483;20836995;23155690;22766261;21274726;21277937;21317933;21527534;21832286;22745237;23176180;21717411;22024993;22623531;22679506;22788855;23233674;22710726;22778172 2798 P30968 ABBA01022900;AC079880;AF001952;AMYH01014248;AY392011;BC113546;CH471057;CS052866;L03380;L07949;NG_009293;NM_000406;NM_001012763;S60587;S77472;U19602;U19603;Z81148;Z99995 AAA35917;AAA35918;AAA63884;AAA63885;AAB26287;AAB33884;AAB71348;AAI13547;AAR92228;ADR83139;CAB03541;CAB17082;CAI72249;EAX05557;EAX05558;NP_000397;NP_001012781;P30968 Hs.407587 2120610;2123296;2149873;2161615;2190601;5117110 D4S3174;GDB:437520;GNRHR;SHGC-59524;SHGC-60090;WI-16095 GNRHR1;GRHR;HH7;LHRHR;LRHR OTTHUMP00000159637;OTTHUMP00000218970;gnRH receptor;gnRH-R;gonadotropin-releasing hormone (type 1) receptor 1;gonadotropin-releasing hormone receptor;leutinizing hormone releasing horomone receptor;leutinizing-releasing hormone receptor;luliberin receptor;type I GnRH receptor APPROVED protein-coding 4421 00732 138850;146110;228300 REVIEWED 7204787 GOLGA2P6 golgin A2 pseudogene 6 10 30653262 30655685 - 101060184 ABBA01034346;ABBA01034347;AL161651 pseudo 44948 MODEL 1349989 GOLGA4P1 golgin A4 pseudogene 1 14 14 q32.33 105884258 105884771 - 106813213 106813726 - 9841928 192131 AB019439;AMYH01006101;NG_001019 APPROVED pseudo 18660 VALIDATED 69083 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) The protein encoded by this gene is secreted and then cleaved to form the 10 aa luteinizing hormone-releasing hormone (LHRH, also known as gonadoliberin-1), and prolactin release-inhibiting factor (also known as GnRH-associated peptide 1). LHRH stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutation in this gene are associated with hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2012] 8 8 p21-p11.2 25332691 25338473 - 25276774 25282556 - 704404;1580863;2292541;6480464;6907045 17692113 10832105;22074952;1310542;2867548;8692981;19403562;19190109;19086053;19064572;18980792;18959739;18959738;18477660;18467526;18463157;17680884;17605472;17557168;17456575;17220347;17202595;16359986;16157590;16061872;15809743;15578334;15562029;15546906;15490304;15489334;15283968;15229199;15138251;15062568;15001648;14726258;14594454;14565958;12969578;12788881;12770744;12633791;12477932;12447356;12054733;12040003;11875100;11278902;10391209;9484912;9414473;9202214;8889548;8784072;8529206;8145771;6760865;6090951;3511544;2863757;2671939;1767338;1682898;22161498;20634197;19453261;19489874;19535795;19567835;19640273;19849976;20118984;20424473;20484732;20734064;16754659;20529119;20138117;20188792;20389089;20400076;21368045;20727862;20727865;20807514;20887715;20951683;23077052;21827674;21646369;21714833;21855365;21722705;22024993 2796 P01148 ABBA01005564;AC091185;AL047164;AMYH01018582;BC067290;BC126437;BC126463;CB243067;CH471080;M12578;NG_016457;NM_000825;NM_001083111;X01059;X15215 AAA35916;AAI26438;AAI26464;ADR82781;CAA25526;CAA33285;EAW63591;EAW63592;NP_000816;NP_001076580;P01148 Hs.82963 1658498;1741623;2160982;2182958 D8S1916;GDB:181593;SHGC-31262;WI-18854 GNRH;GRH;HH12;LHRH;LNRH GnRH-associated peptide 1;OTTHUMP00000225172;OTTHUMP00000225173;gonadotropin-releasing hormone 1;gonadotropin-releasing hormone 1 (leutinizing-releasing hormone);luliberin I;progonadoliberin I;progonadoliberin-1;prolactin release-inhibiting factor APPROVED protein-coding ENSG00000147437 4419 08860 152760;614841 REVIEWED 1351575 GOLGA4P2 golgin A4 pseudogene 2 14 q32.33 106788488 106789003 - 9841928 192132;378711 AB019439;ABBA01074098;AMYH01006101;NG_001019 APPROVED pseudo 20727 VALIDATED 6480140 GOLGA4P3 golgin A4 pseudogene 3 14 q32.33 107109482 107110398 - 9841928 192130 AB019437;AMYH01006101;NG_001019 1761069 SHGC-145014 pseudo 43786 VALIDATED 1322690 GOLGA1 golgin A1 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010] 9 9 q33.3 126680449 126743178 - 127640573 127703386 - 1580863;6480464 9324025;17276477;16262725;15654769;15269279;14702039;12972563;12477932;10209123;20583170;16344560;17872946;20379614;8889549;20610657;16498633;22190034 2800 H0YE54;Q5T165;Q92805;R4GNH1 AA027278;AB208858;ABBA01043758;AK302445;AK307789;AL050012;AL354928;AL451125;AMYH01021708;AW237629;BC032853;BG699932;CH471090;DA324844;NM_002077;U51587 AAB81549;AAH32853;ABM83387;BAD92095;BAG63742;EAW87605;EAW87606;NP_002068;Q92805 Hs.133469;Hs.59504 1671889;1673793;1766091;1855277;1856364;2121737;2128999;2179840;5491965 D9S1723;D9S1928;D9S2063;GOLGA1-1;RH12038;RH79254;SHGC-149475;SHGC-32296;SHGC-4663 MGC33154;golgin-97 Golgin subfamily A member 1;OTTHUMP00000022117;gap junction protein, alpha 4, 37kD;golgi autoantigen, golgin subfamily a, 1 APPROVED protein-coding ENSG00000136935 4424 03934 602502 REVIEWED 6769182 GOLGA5P1 golgin A5 pseudogene 1 5 p13.1 39169808 39170435 - 100418736 ABBA01024209;AC010633;AMYH01015043;NG_024586;NG_029596 pseudo 43925 INFERRED 1604610 GOLGA2P5 golgin A2 pseudogene 5 12 12 12 q23.1 100222292 100232607 - 99074321 99091202 - 100550169 100567121 - 16344560;14702039;12477932;10737800;16751776 55592 Q6ZN85;Q9HBQ8 ABBA01053263;AC010203;AF217995;AK124885;AK131330;AL137680;AL137720;AL359652;AMYH01004696;BC034587;BC048272;BC092435;BC109389;BC110077;BC127181;BC141930;BQ366018;BX504274;BX647364;CH471054;DB014223;DQ572567;DQ592914;NR_024261;NR_036632 AAG17237;AAI09390;AAI41931;BAD18490;CAB70892;EAW97621;EAW97622;Q9HBQ8 Hs.524660;Hs.645240 1657766;1665109 G30583;RH79243 DKFZp434A0411;DKFZp434K1926;DKFZp434M0331;GOLGA2B;GOLGA2L1 Golgin subfamily A member 2B;golgi autoantigen, golgin subfamily a, 2-like 1;golgin A2-like 1;golgin subfamily A member 2-like protein 1 APPROVED pseudo ENSG00000238105 25315 13195 VALIDATED 1354461 GOLGA6B golgin A6 family, member B This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008] 15 15 15 q24.1 52501616 52514312 + 70734092 70746791 + 72947038 72959738 + 16572171;12915487;11896453;11509185;11161787;11156619 55889 A6NDN3 ABBA01038724;AC009712;AC100827;AMYH01006769;AMYH01006770;CH471136;NM_018652 A6NDN3;AAI69330;EAW99264;EAW99265;EAW99266;EAW99267;EAW99268;EAW99269;NP_061122 Hs.546408 GOLGA;GOLGA6D Golgin subfamily A member 6B;OTTHUMP00000223252;Putative golgin subfamily A member 6D;golgi autoantigen, golgin subfamily a, 6B;golgin-like protein;putative golgin subfamily A member 6B APPROVED protein-coding 32205 17047 REVIEWED 1314172 GNS glucosamine (N-acetyl)-6-sulfatase The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008] 12 12 q14 63393489 63439479 - 65107222 65153226 - 1599248;1580863;6480464;7240710 12573255 3689315;17998446;16990043;16344560;15489334;14702039;12754519;12624138;12477932;8125298;3391615;3196333;1755850;1463457;15962010;17474147;19650410;20232353;22863883;22268729;21890473;21906983;21628590 2799 B4DYH8;F5H4C6;F6S8M0;H0YFA9;H7C3P4;P15586;Q7Z3X3 AA725727;ABBA01026594;ABBA01026595;AC025262;AK054660;AK223484;AK291771;AK296759;AK300350;AK302443;AK304158;AK308094;AK308454;AMYH01004550;BC012482;BC017742;BC038967;BX486076;BX537363;CA447080;CH471054;DA333542;DA437901;NG_008955;NM_002076;Z12173 AAH12482;ADZ15425;BAD97204;BAF84460;BAG59340;BAG62092;BAG63740;BAG65046;CAA78164;CAD97608;EAW97138;EAW97139;EAW97140;NP_002067;P15586 Hs.334534 1658386;1661258;1744021;1746591;1746637;2117781;2134444;2161362;5017609;5037552;7186969 D8S2279;G64479;G64499;GDB:384851;GNS;RH11164;RH44874;SHGC-34784;SHGC-35771;STS-Z12173 G6S;MGC21274 N-acetylglucosamine-6-sulfatase;OTTHUMP00000239531;OTTHUMP00000239532;OTTHUMP00000239539;OTTHUMP00000239540;OTTHUMP00000239542;glucosamine-6-sulfatase APPROVED protein-coding ENSG00000135677 4422 09637 252940;607664 REVIEWED 2299186 GOLGA6C golgin A6 family, member C 15 15 q24.2 73337958 73350921 + 75550899 75565796 + 16572171 653641 A6NDK9 AC068338;AMYH01006806;AMYH01006807;AMYH01006808;NM_001164404 A6NDK9;NP_001157876 Hs.540230 Golgin subfamily A member 6C;golgi autoantigen, golgin subfamily a, 6C;putative golgin subfamily A member 6C APPROVED protein-coding 32206 INFERRED 2299185 GOLGA6D golgin A6 family, member D 15 15 q24.2 73362235 73375201 + 75575182 75588148 + 16572171 653643 P0CG33 ABBA01060520;AC068338;AMYH01006809;AMYH01006810;AMYH01006811;AMYH01006812;AMYH01006813;AMYH01006814;NM_001145224 NP_001138696;P0CG33 Hs.672474 golgi autoantigen, golgin subfamily a, 6D;golgin A6 family, member D;putative golgin subfamily A member 6D APPROVED protein-coding 32204 INFERRED 1347402 GOLGA2 golgin A2 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010] 9 9 q34.11 130057929 130078089 - 131018108 131038268 - 1580863;6480464 15194699;15229288;19242490;19109421;18167358;18045989;16964243;16489344;16189514;16097034;15796781;15489334;15164053;15037601;12665801;12477932;12270925;12111718;11855815;11781572;11739402;11739401;11718716;11703931;11696556;11591729;11306556;11285137;11035033;10769027;10744704;10560974;10487747;10209123;9753325;9628863;9478999;9346242;9150144;8557739;8315394;10931861;12788069;16169070;14623284;22558309;20197635;20936779;15101818;18029348;20086247;21182205;20360068;21078624;21139048;21900206;21906983;21987572;11901144;19059912;21988832;22735382;22792062;21567396 2801 B7ZC06;H0Y7B8;Q08379;R4GND7 ABBA01043872;AF248953;AL590708;AMYH01021743;AW583140;AY823636;BC006381;BC014188;BC069268;BQ181201;BT007248;BX647920;CH471090;CQ834570;L06147;NM_004486 AAA35920;AAF65550;AAH14188;AAH69268;AAP35912;AAV76025;CAH05500;CAI46071;EAW87762;EAW87763;EAW87764;EAW87765;NP_004477;Q08379 Hs.155827 1676105;1678125;1712320;5113515 G54069;RH39755;RH69450;RH80222 GM130;MGC20672 130 kDa cis-Golgi matrix protein;GM130 autoantigen;Golgi matrix protein GM130;Golgin subfamily A member 2;OTTHUMP00000022234;SY11 protein;golgi autoantigen, golgin subfamily a, 2;golgin-95 APPROVED protein-coding ENSG00000167110 4425 03989 602580 REVIEWED 2881562 GOLGA6L11P golgin A6 family-like 11, pseudogene Y Y q11.23 24730081 24732997 + 26316058 26318816 + 12815422 360024 AC023274;NG_004755 GOLGA6L15P pseudo 23958 VALIDATED 2881560 GOLGA6L12P golgin A6 family-like 12, pseudogene Y Y q11.223 24804013 24805395 - 26394625 26396007 - 12815422 360025 AC012005;NG_004755 pseudo 23959 VALIDATED 2881559 GOLGA6L13P golgin A6 family-like 13, pseudogene Y Y q11.223 25975818 25977200 + 27566430 27567812 + 12815422;9847074 360026 AC006328;NG_004755 pseudo 23960 VALIDATED 2881541 GOLGA6L14P golgin A6 family-like 14, pseudogene Y Y q11.223 26048209 26051134 - 27638821 27641746 - 12815422;9847074 360027 AC006328;NG_004755 pseudo 23961 VALIDATED 2881210 GOLGA6L10 golgin A6 family-like 10 15 15 q25.2 80419254 80428761 - 83010366 83018105 - 16572171;16751776;16344560;21890473;9847074 647042 A6NI86 AC010724;AC011295;AC139425;AMYH01006854;DB042163;DB044490;NM_001164465;XM_003959993 A6NI86;NP_001157937;XP_003960042 Hs.498322 5019114 RH102012 golgi autoantigen, golgin subfamily a, 6-like 10;golgin subfamily A member 6-like protein 10-like;putative golgin subfamily A member 6-like protein 10 protein-coding 37228 VALIDATED 3077624 GOLGA6L15P golgin A6 family-like 15, pseudogene Y q11.23 26314334 26320641 + 100287730 AC023274 pseudo 38114 3051034 GOLGA6L16P golgin A6 family-like 16, pseudogene Y Y q11.23 10486092 10488850 + 27643623 27646381 - 100287845 ABBA01030397;AC006328;NG_021930 pseudo 38117 INFERRED 1352947 GOLGA4 golgin A4 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] 3 3 p22-p21.3 37259742 37383246 + 37284682 37408370 + 1580863;6480464 8626529;1400343;18849489;18394601;18308930;17081983;15870108;15654769;15302935;15265687;14718928;14718574;14702039;12972563;12477932;11303027;11149944;10231028;10209123;9013329;8537393;10737800;14580338;21832049;19224922;17043677;21139048;21906983;21900423 2803 C9J0Y3;C9JHJ5;E7EVX2;H0Y6I0;Q13439;Q49A56;Q86W71 AA779873;AB209693;ABBA01024844;ABBA01024845;ABBA01024846;ABBA01024847;ABBA01024848;ABBA01024849;ABBA01024850;AC097359;AF273047;AK022389;AK290550;AK300192;AK307429;AMYH01013087;AW881112;AY531221;BC023648;BC045543;BC050444;BX640663;CH471055;NM_001172713;NM_002078;U31906;U41740;X76942;X82834 AAC50434;AAC51791;AAG34907;AAH45543;AAH50444;AAI72405;AAS98194;BAD92930;BAF83239;BAG61965;CAA54261;CAA58041;EAW64494;EAW64495;EAW64496;NP_001166184;NP_002069;Q13439 Hs.344151 1644955;1704226;1706444;1762235;1848280;2138822;2154422;2174026;2184000;5014051;5019629;5022200;5022651;5037552;5094975;5109281 A005P39;D11S2921;D1S1425;D8S2054;D8S2278;D8S2279;G29146;G32260;GOLGA4;L18426;RH66759;SGC33712;SHGC-146102;SHGC-80804;SHGC-83140;STS-AA017401 GCP2;GOLG;MU-RMS-40.18;p230 256 kDa golgin;72.1 protein;Golgin subfamily A member 4;OTTHUMP00000161363;OTTHUMP00000208897;OTTHUMP00000209805;golgi autoantigen, golgin subfamily a, 4;golgin-240;golgin-245;protein 72.1;trans-Golgi p230 APPROVED protein-coding ENSG00000144674 4427 03941 602509 REVIEWED 1606654 GOLGA6A golgin A6 family, member A The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008] 15 15 q24.1 72149251 72161944 - 74362198 74374891 - 6480464 16344560;12915487;12477932;11896453;11509185;11161787;11156619 342096 A2VDJ1;Q9NYA3 AC013486;AF263742;AF266285;AK292574;AMYH01006783;AMYH01006784;AMYH01006785;AMYH01006786;AMYH01006787;AMYH01006788;BC131515;DB039513;NM_001038640 AAF72196;AAF72535;AAI31516;AAI56410;AAI57133;BAF85263;NP_001033729;Q9NYA3 Hs.546408;Hs.672474 FLJ75859;GLP;GOLGA6 Golgin linked to PML;Golgin subfamily A member 6A;golgi autoantigen, golgin subfamily a, 6;golgi autoantigen, golgin subfamily a, 6A;golgi autoantigen, golgin subfamily a, member 6;golgin-like protein APPROVED protein-coding ENSG00000159289 13567 610288 VALIDATED 1317779 GOLGA5 golgin A5 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013] 14 14 14 q32.12 73314759 73360445 + 92330403 92376057 + 93260650 93306304 + 1580863;1599259;6480464;7240710 9443391 12538640;9915833;17081983;15718469;15592455;15489334;15144186;15004235;12699642;12656988;12508121;12477932;2734021;20874812;18029348;22558309;16344560;19060882;21990969 9950 H0YK03;Q8TBA6 ABBA01030446;AF085199;AI288133;AJ132949;AK293077;AK303789;AL132987;AL702150;AMYH01005962;AW103620;AW294222;AY644768;BC010134;BC023021;BX248744;CH471061;DB096772;NG_023248;NM_005113 AAD09753;AAH23021;AAV85456;BAF85766;BAG64746;CAB36967;CAD66551;EAW81502;NP_005104;Q8TBA6 Hs.104320 1678711;2180193;5092938 A009C34;D14S897;G32424 GOLIM5;RFG5;ret-II Golgin subfamily A member 5;OTTHUMP00000245464;RET-fused gene 5 protein;cell proliferation-inducing gene 31 protein;golgi autoantigen, golgin subfamily a, 5;golgi integral membrane protein 5;golgin-84 APPROVED protein-coding ENSG00000066455 4428 06079 188550;606918 REVIEWED 3517752 GOLGA6L1 golgin A6 family-like 1 15 15 q11.2 20287610 20296164 + 22736246 22746002 + 6480464 12477932;14702039 283767 H0YK22;I3L087;Q8N7Z2 AC116165;AK097517;AMYH01006380;BC127816;NM_001001413 AAI27817;NP_001001413;Q8N7Z2 Hs.531569 5023373 D3S3142 FLJ36131;FLJ40198 Golgin subfamily A member 6-like protein 1;golgi autoantigen, golgin subfamily a, 6-like 1;golgi autoantigen, golgin subfamily a-like protein-coding ENSG00000197414 37444 PROVISIONAL 1313187 GOLGA3 golgin A3 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010] 12 12 q24.33 131855568 131915361 - 133345495 133405426 - 1580863;6480464 22542470;8315394;9295333;17118120;17081983;16870622;16341674;15951434;15829563;15489334;14702039;14522980;12477932;12130652;12036294;10791974;10737800;10209123;8889548;16543716;17643375;17711851;20379614;16714286;20562859;20170975;18029348;16051665;21078624;21139048;19322201;22814606;23184937 2802 Q08378 AB027133;ABBA01042544;ABBA01042545;ABBA01042546;AC127070;AC136467;AF485338;AK092223;AMYH01004922;AMYH01004923;BC037937;BC060826;BC142658;BC146675;BF902971;BM842318;BM981309;BQ898615;CH471218;D63997;L06148;NG_029887;NM_001172557;NM_005895 AAA35921;AAH60826;AAI42659;AAI46676;AAL93149;BAA23661;BAB71953;EAW54817;EAW54818;EAW54819;EAW54820;NP_001166028;NP_005886;Q08378 Hs.507333 1674739;1694766;1746211;1773039;1775596;2127615;5117897 Cda1jf08;D12S1924;G43591;G64708;GDB:631813;RH47421;RH69908 GCP170;MEA-2 Golgi complex-associated protein of 170 kD;Golgi membrane associated protein;Golgi peripheral membrane protein;Golgin subfamily A member 3;OTTHUMP00000237617;OTTHUMP00000237618;OTTHUMP00000237619;SY2/SY10 protein;golgi autoantigen, golgin subfamily a, 3;golgi complex-associated protein of 170 kDa;golgin-160;golgin-165;male enhanced antigen-2 APPROVED protein-coding ENSG00000090615 4426 03990 602581 REVIEWED 4107324 GOLGA6L7P golgin A6 family-like 7, pseudogene 15 15 q13.1 26886140 26893126 - 29090107 29093821 - 728310 ABBA01042010;AC055876;AK302238;AMYH01006497;NR_047567 BAH13656 Hs.589351 GOLGA6L7 APPROVED pseudo ENSG00000261649 37442 VALIDATED 2816669 GOLGA6L6 golgin A6 family-like 6 15 15 q11.2 18999026 19007128 - 20737094 20747114 - 16572171;14702039 727832 A8MZA4 AC131280;AK093450;AMYH01006163;AMYH01006164;AMYH01006165;NM_001145004 A8MZA4;BAC04170;NP_001138476 Hs.125917;Hs.569472 5023373 D3S3142 FLJ36131 golgi autoantigen, golgin subfamily a, 6-like 6;golgi autoantigen, golgin subfamily a-like;golgin A6 family-like 6;putative golgin subfamily A member 6-like protein 6;putative transmembrane protein FLJ36131 protein-coding 37225 INFERRED 2304159 GOLGA6L2 golgin A6 family-like 2 15 15 q11.2 21236053 21243421 - 23684690 23692390 - 14702039;12477932 283685 F8WBV9;H3BMJ4;H3BS38;Q8N9W4 ABBA01048674;ABBA01048675;AC073446;AC100756;AK093463;AK097414;AMYH01006477;BC129820;BC129821;CH471151;XM_002343322;XM_003846353;XM_003846579;XM_003960565 AAI29821;AAI29822;BAC04173;EAW57606;EAW57607;Q8N9W4;XP_002343363;XP_003846401;XP_003846627;XP_003960614 CT105;FLJ36144;MGC149275 cancer/testis antigen 105;golgi autoantigen, golgin subfamily a, 6-like 2;golgi autoantigen, golgin subfamily a-like;golgin A6 family-like 2;golgin subfamily A member 6-like protein 2 APPROVED protein-coding ENSG00000174450 26695 08206 MODEL 3460527 GOLGA6L4 golgin A6 family-like 4 15 15 q25.2 82695491 82707734 + 82695491 82707734 + 12477932;14702039 161527 A6NEF3;H0Y618;H0YA86;J3KQ80 AC136698;AK090778;BC101294;XM_929030 A6NEF3;AAI01295;XP_934123 Hs.534573 5016711;5019114 RH102012;RH48788 golgi autoantigen, golgin subfamily a, 6-like 4;golgin A6 family-like 4 protein-coding 27256 3207436 GOLGA6L3 golgin A6 family-like 3 15 15 q25.3 83584607 83594205 + 85783641 85790401 + 12477932;16572171 100133220 A6NEY3 ABBA01029415;AC044860;AK301968;AMYH01006887;BC101293;XM_002343391;XM_003118679;XM_003960588;XM_003960879 A6NEY3;BAG63381;XP_002343432;XP_003118727;XP_003960637;XP_003960928 Hs.454625 FLJ61448 Putative golgin subfamily A member 6-like protein 3;golgi autoantigen, golgin subfamily a, 6-like 3;golgin A6 family-like 3;hypothetical golgin-like LOC100133220 protein-coding 37441 MODEL 1603152 GOLGA6L5 golgin A6 family-like 5 (pseudogene) 15 15 q25.2 82854128 82861082 - 85047738 85060078 - 16344560;14702039;12477932;21078624;16713569 374650 A6NFL8 AC048382;AK092490;AK097432;AK130562;AK301885;BC131532;BX647899;DB050061;NR_003246 A6NFL8;BAC03904;BAC05050;BAG63317 Hs.454625;Hs.498322;Hs.498345;Hs.534573;Hs.735157 5016711;5019114 RH102012;RH48788 FLJ35171;FLJ40113;GOLGA6L8;MGC141816 APPROVED pseudo 30472 13416;13442 VALIDATED 1351077 GOLGA7 golgin A7 8 8 8 p11.21 40297177 40317582 + 41467238 41487656 + 41348081 41368499 + 737633;6480464 12477932 16000296;15489334;14522980;11827452;11752456;11042152;19913121;20628086;23080069;21139048;21890473;21906983;22053931 51125 Q7Z5G4 AB104615;ABBA01021130;ABBA01021131;AC009630;AF068291;AF125102;AK026613;AL695304;AMYH01018670;AMYH01018671;AV650886;BC001227;BC012032;BG939345;BI553491;CH471080;NM_001002296;NM_001174124;NM_016099 AAD39919;AAF65180;AAH12032;BAC82368;EAW63258;EAW63259;NP_001002296;NP_001167595;NP_057183;Q7Z5G4 Hs.654773 1664095;2118743 RH66402;WI-14408 GCP16;GOLGA3AP1;GOLGA7A;HSPC041;MGC21096;MGC4876 Golgi complex-associated protein of 16kDa;Golgin subfamily A member 7;OTTHUMP00000225805;OTTHUMP00000225806;OTTHUMP00000225807;OTTHUMP00000225809;golgi autoantigen, golgin subfamily a, 7;golgi complex-associated protein of 16 kDa APPROVED protein-coding ENSG00000147533 24876 13595 609453 VALIDATED 1602143 GOLGA6L9 golgin A6 family-like 9 15 15 q25.2 80509240 80518642 + 83098803 83106402 + 6480464 12477932;9847074 440295 A6NEM1 ABBA01015428;AC010724;AC135995;AK128268;BC041854;BF671239;CR936812;NM_198181 A6NEM1;AAH41854;NP_937824 Hs.498322 5016711 RH48788 Golgin subfamily A member 6-like protein 9;OTTHUMP00000244012;golgi autoantigen, golgin subfamily a, 6-like 9;golgi autoantigen, golgin subfamily a, 6D-like APPROVED protein-coding ENSG00000197978 37229 11262 VALIDATED 1604639 GOLGA8A golgin A8 family, member A The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 15 15 q11.2 32458561 32487180 - 34671269 34729667 - 6480464 14702039;12477932;10677249;10660574;10048485;22558309 23015 F5H2E4;J3KQL3;Q9NZW3 AB020662;ABBA01152990;AC025678;AF163441;AF204231;AK123221;AL117569;AL137686;AMYH01006512;AMYH01006513;AMYH01006514;AMYH01006515;AMYH01006516;AMYH01006517;AMYH01006518;AMYH01006519;AMYH01006520;AMYH01006521;BC032774;BC064341;BC093673;BC104800;BC144609;BC150329;BC152410;BX648160;BX648575;CR749361;NM_181077;NR_027409 A7E2F4;AAF28463;AAF34136;AAH32774;AAH93673;AAI04801;AAI44610;AAI50330;AAI52411;BAA74878;CAH18214;CAH56372;CAH56400;NP_851422 Hs.182982;Hs.720151 1669377;1680775;1695556;1757613;1774667;1789206;2120915;2165032;2165034;5016711;5024039 A001V17;D15S1224;D15S955;D16S325;G19681;G65602;RH48788;RH91151;SHGC-145107;SHGC-24145;SHGC-68741 GM88 88 kDa Golgi matrix protein;88-kDa golgi protein;GM88 autoantigen;Golgin subfamily A member 8A;OTTHUMP00000160034;golgi autoantigen, golgin subfamily a, 8A;golgin-67 APPROVED protein-coding ENSG00000175265 31972 09974 REVIEWED 1603464 GOLGA8CP golgin A8 family, member C, pseudogene 15 15 q11.2 19027714 19041108 + 20767674 20781026 + 16572171;12477932;16344560;16751776 729786 A6NN73 AC131280;AMYH01006170;AMYH01006171;AMYH01006172;AMYH01006173;DB085317;DQ597523;NR_027411 A6NN73 Hs.592025 GOLGA8C APPROVED pseudo 32375 PROVISIONAL 1312882 GOLGA7B golgin A7 family, member B 10 10 10 q24.2 93347272 93365058 + 99599986 99617772 + 99609995 99631335 + 6480464 15489334;15164054;12477932;8889548 401647 Q2TAP0;Q6ZUQ1 ABBA01021786;ABBA01021787;AK125454;AL358938;AMYH01002980;AW172573;BC008047;BC020255;BC110810;BI754792;BM713854;BQ950672;CA308047;CH471066;DN831741;NM_001010917 AAI10811;BAC86168;EAW49893;NP_001010917;Q2TAP0 Hs.567524 1706040;1736080;1736130;2109195;5127451 CRTAC1_9876;D10S1353E;D10S1393E;D10S2197;SHGC-78664 C10orf132;C10orf133;FLJ43465;MGC131701;bA451M19.3;bA459F3.4 Golgin subfamily A member 7B;OTTHUMP00000020232;golgi autoantigen, golgin subfamily a, 7B;golgi autoantigen-like APPROVED protein-coding 31668 16579 614189 VALIDATED 4106655 GOLGA8H golgin A8 family, member H 15 15 q13.2 28683523 28696084 + 30896233 30906764 + 16572171 728498 P0CJ92;Q8NA68 AC026150;AMYH01006503;XM_002343357;XM_003118674;XM_003959940;XM_003959941;XM_003960572;XM_003960573 P0CJ92;XP_002343398;XP_003118722;XP_003959989;XP_003959990;XP_003960621;XP_003960622 GOLGA6L11 Golgin subfamily A member 8-like protein 1;golgi autoantigen, golgin subfamily a, 6-like 11;golgin A8 family, member H protein-coding ENSG00000261794 37443 MODEL 1605499 GOLGA8EP golgin A8 family, member E, pseudogene 15 15 q11.2 20986537 20999861 + 23435070 23448423 + 12477932 390535 ABBA01123653;AC100757;AK310240;AL041315;AMYH01006446;AMYH01006447;AMYH01006448;AMYH01006449;AMYH01006450;BC063309;DB516755;DQ309037;NR_033350 ABD73921 Hs.454647;Hs.592025 5016711;5113373 RH48788;RH98512 GOLGA8E APPROVED pseudo ENSG00000175676 32377 17381 VALIDATED 6904026 GOLGA8K golgin A8 family, member K 15 q13.3 32684890 32695493 - 653125 D6RF30 AC139426;XM_001724746;XM_003118652;XM_003959942;XM_003959943 XP_001724798;XP_003118700;XP_003959991;XP_003959992 Hs.649690 golgin A8 family, member K;putative golgin subfamily A member 8I-like protein-coding ENSG00000249931 38652 MODEL 6903964 GOLGA8N golgin A8 family, member N 15 32877285 32896179 + 100996439 F8WBI6;H3BMP0;I3L0J0 XM_003846271 XP_003846319 golgin A8 family, member N;golgin subfamily A member 8-like protein 2-like protein-coding 44405 6904101 GOLGA8M golgin A8 family, member M 15 q13.1 28947100 28983530 - 16572171 653720 A6NCM5;H3BSY2 AC055876;AMYH01006497;XM_003118930;XM_003959978;XM_003959979;XM_003959980;XM_003960559;XM_003960560;XM_003960561;XM_003960562 A6NCM5;H3BSY2;XP_003118978;XP_003960027;XP_003960028;XP_003960029;XP_003960608;XP_003960609;XP_003960610;XP_003960611 1681094 RH92635 Golgin subfamily A member 8-like protein 1-like;Putative golgin subfamily A member 6-like protein 7;golgin A8 family, member M protein-coding ENSG00000188626 44404 MODEL 4105865 GOLGA8J golgin A8 family, member J 15 15 q13.2 28162450 28175021 + 30375158 30385702 + 16572171 653073 A6NMD2;H3BRU0 ABBA01010409;AC120045;AMYH01006502;XM_001724382;XM_001724383;XM_003403669;XM_003846266;XM_003959937;XM_003959938;XM_003960566;XM_003960567;XM_003960568;XM_003960569;XM_003960570 A6NMD2;XP_001724434;XP_001724435;XP_003403717;XP_003846314;XP_003959986;XP_003959987;XP_003960615;XP_003960616;XP_003960617;XP_003960618;XP_003960619 Hs.574257 Golgin subfamily A member 8-like protein 3;golgin A8 family, member J;golgin subfamily A member 8J protein-coding ENSG00000179938 38650 MODEL 6904052 GOLGA8Q golgin A8 family, member Q 15 q13.2 30848469 30854701 + 727909 H3BV12 AC026150;AMYH01006503;NG_029301 pseudo 44408 INFERRED 1602144 GOLGA8B golgin A8 family, member B 15 15 q14 32604588 32613203 - 34817483 34875771 - 6480464 16572171;15489334;14702039;10677249;10660574;12477932;20835239;16751776 440270 A8MQT2;C9J1B5 ABBA01038526;ABBA01038527;ABBA01038528;ABBA01038529;AC027139;AK097551;AL133593;AMYH01006521;AMYH01006522;AMYH01006523;BC143254;BC144610;BX647673;NM_001023567;NR_027410 A8MQT2;AAI43255;AAI44611;NP_001018861 Hs.720151 1658113;1684100;1757613;1783316;1789206;2107123;2132019;2165032;2165034;2172584;2190961;5016711;5024039 A001V17;D16S325;FSCN1__6758;G19681;G65602;MARC_12099-12100:1004643257:1;RH46336;RH48788;RH92530;SHGC-14031;SHGC-145107;SHGC-89201;UniSTS:61556 GOLGA5;KIAA0855 Golgin subfamily A member 8B;OTTHUMP00000159946;golgi autoantigen, golgin subfamily a, 8B;golgin-67 APPROVED protein-coding ENSG00000215252 31973 18635 609619 VALIDATED 6904075 GOLGA8O golgin A8 family, member O 15 q13.3 32737307 32747835 - 12892780;16344560;16572171;21436057 728047 A6NCC3;H3BSI0 AC135983;AMYH01006502;BQ477899;DB068178;NM_001277308;XM_001126912;XM_003118654;XM_003960571 A6NCC3;NP_001264237;XP_001126912;XP_003118702;XP_003960620 5015467;5016711 RH48788;RH79010 Golgin subfamily A member 6-like protein 11;golgin A8 family, member O;golgin subfamily A member 8-like protein 2-like;golgin subfamily A member 8O protein-coding ENSG00000206127 44406 VALIDATED 6904007 GOLGA8T golgin A8 family, member T 15 q13.2 30427990 30439395 + 653075 H3BQL2 AC120045;AK310526;AMYH01006502;NR_033933 Hs.727141 pseudo 44410 VALIDATED 6904100 GOLGA8UP golgin A8 family, member U, pseudogene 100507067 AC004460 pseudo 44411 MODEL 1625096 GOLGA8DP golgin A8 family, member D, pseudogene 15 15 15 q11.2 30551934 30555119 - 20253649 20267066 - 22702285 22715728 - 15489334;12477932;16751776 100132979 Q0D2H9 ABBA01165257;AC116165;AK292534;AMYH01006368;AMYH01006369;AMYH01006370;AMYH01006371;AMYH01006372;AMYH01006373;AMYH01006374;AMYH01006375;AMYH01006376;AMYH01006377;AMYH01006378;AMYH01006379;AMYH01006380;BC110417;DQ599035;NR_027407 AAI10418;BAF85223;Q0D2H9 Hs.454647;Hs.510812;Hs.592025 FLJ77521;GOLGA8D;MGC102859 APPROVED pseudo 32376 VALIDATED 6903987 GOLGA8S golgin A8 family, member S 15 q11.2 23599895 23613471 + 16344560;16572171 653061 H3BPF8 AC100756;AMYH01006475;AMYH01006476;DB053404;NR_038843 Hs.528454 pseudo 44409 INFERRED 2299191 GOLGA8I golgin A8 family, member I 15 15 q11.2 20806683 20819025 + 23255242 23262743 + 6480464 14702039;12477932;16572171 283796 A6NC78 AC091565;AK093104;AMYH01006390;NR_024074 A6NC78;BAC04058 Hs.375441 FLJ35785;GOLGA8IP;GOLGA9P APPROVED pseudo ENSG00000153666 26660 08189 PROVISIONAL 1604677 GOLGA8F golgin A8 family, member F 15 15 q13.1 26297405 26310834 + 28623784 28636412 + 18226259;17672918;16344560;15489334;14702039;12477932 100132565 H3BMC3;Q08AF8 ABBA01154818;ABBA01165257;AC091304;AC138747;AC139511;AK057241;AK302625;AL833871;AMYH01006497;BC144672;BC150302;DB071191;DQ309038;NR_033351 AAI50303;ABD73922;BAG63868;CAD38728 Hs.510812;Hs.592025 DKFZp434P162;FLJ32679;FLJ59075;FLJ77521;MGC102859;MGC104696;MGC167066 APPROVED pseudo ENSG00000153684 32378 VALIDATED 1606114 GOLGA8G golgin A8 family, member G 15 15 q13.1 26563798 26577158 - 28764757 28778143 - 6480464 14702039;12477932;16751776 283768 H3BMC3;Q08AF8 AC138749;AK302813;AL137398;AMYH01006497;BC066774;BC099913;BC125193;BC125194;DQ595587;NR_033353 AAH99913;AAI25194;AAI25195;BAG64013;Q08AF8 Hs.169639;Hs.510812 5016711 RH48788 DKFZp434K052 APPROVED pseudo ENSG00000183629 25328 17331 VALIDATED 6904053 GOLGA8R golgin A8 family, member R 15 q13.2 32885755 32896179 + 12477932 643699 A6NP81;I6L899 AC019322;AC123768;AMYH01006505;BC101292;XM_003959944;XM_003960580;XM_003960581;XM_003960582;XM_003960583;XM_003960584 A6NP81;AAI01293;F8WBI6;I6L899;XP_003959993;XP_003960629;XP_003960630;XP_003960631;XP_003960632;XP_003960633 Hs.672754 golgin A8 family, member R;golgin subfamily A member 8-like protein 2-like protein-coding 44407 MODEL 1322138 GOLIM4 golgi integral membrane protein 4 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008] 3 3 q26.2 169210348 169296111 - 167727654 167813417 - 1580863;6480464 9201717;18029348;18391951;17605763;16344560;15331763;15004235;12207053;12191016;11598199;12477932;20130081;22939629;19322201;23400010 27333 F8W785;O00461 ABBA01058723;ABBA01058724;AC069243;AC117467;AK307557;AK307718;AMYH01013636;AMYH01013637;BC143232;BC143233;BC171748;BF130574;BM925724;C18867;CH471052;DA028346;NM_014498;U55853 AAB58419;EAW78564;EAW78565;EAW78566;NP_055313;O00461 Hs.143600 1686454;1758407;2219092 GOLPH4__6634;RH93782;SHGC-148261 GIMPC;GOLPH4;GPP130;P138 130 kDa golgi-localized phosphoprotein;Golgi integral membrane protein 4;OTTHUMP00000213059;OTTHUMP00000213060;cis Golgi-localized calcium-binding protein;golgi integral membrane protein, cis;golgi phosphoprotein 4;golgi phosphoprotein of 130 kDa;golgi-localized phosphoprotein of 130 kDa;type II Golgi membrane protein APPROVED protein-coding 15448 08429 606805 REVIEWED 1346868 GOLT1A golgi transport 1A 1 1 1 q32.1 177302746 177318675 - 202433911 202449843 - 204167288 204183220 - 737633;6480464 12477932 16710414;15489334;15221005;14702039;10406798;19536175;17207965 127845 Q6ZVE7 AB075871;ABBA01027448;ABBA01027449;AK124645;AL592114;AMYH01001661;BC058832;CH471067;NM_198447 AAH58832;ADQ32124;BAC85915;BAD38653;EAW91508;NP_940849;Q6ZVE7 Hs.532401 2163171 SHGC-76186 CGI-141;FLJ42654;GOT1;HMFN1187;MGC62027;RP11-203F10.3;YMR292W OTTHUMP00000034309;hGOT1b;putative protein product of HMFN1187;vesicle transport protein GOT1A APPROVED protein-coding ENSG00000174567 24766 13465 PROVISIONAL 1351894 GOLGB1 golgin B1 3 3 q13 122864738 122951292 - 121382046 121468614 - 1580863;6480464 16169070;7691276;15308636;8198703;18487259;17475246;15231748;15004235;12429822;14718574;12477932;11927603;11590181;11035033;10931861;10744704;9490716;7802676;15718469;18685082;18029348;20936779;21697133;22939629;22053931;14980500;14702039;22558309;15342556;21139048;21906983;8889549;20682791;23422753 2804 C9J8Q0;E7EU81;F1T0J2;F8WF12;H0Y867;H7C5I7;Q14789 AA127633;AB371588;AB593126;ABBA01016478;ABBA01016479;ABBA01016480;AC119736;AC133750;AK094551;AK296903;AK298986;AK300437;AMYH01013425;BC065301;BF061034;BM475510;BP320001;BX537520;CH471052;D25542;NM_001256486;NM_001256487;NM_001256488;NM_004487;X75304 BAA05025;BAG48317;BAG59460;BAG61079;BAG62161;BAJ84066;CAA53052;EAW79502;EAW79503;EAW79504;NP_001243415;NP_001243416;NP_001243417;NP_004478;Q14789 Hs.213389;Hs.741209 1652310;1674107;1689023;1722035;1723997;1728953;1775082;1794414;2142518;2149484;2155976;2171603;2171605;2183837;2190513 A001X20;D10Bir6;D3S3940;EST13C8;G19747;G59904;IB1423;PMC311069P7;RH118950;RH69909;RH91267;SHGC-37473;STS-X75304;WI-22003;WIAF-2081 DKFZp686F09142;FLJ37232;GCP;GCP372;GIANTIN;GOLIM1 372 kDa Golgi complex-associated protein;Golgin subfamily B member 1;OTTHUMP00000215187;OTTHUMP00000215188;giantin;golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1;golgi integral membrane protein 1;golgin B1, golgi integral membrane protein;macrogolgin APPROVED protein-coding ENSG00000173230 4429 03933 602500 VALIDATED 1322921 GOLM1 golgi membrane protein 1 The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009] 9 9 q21.33 87830876 87904903 - 88641056 88715116 - 1580863;6480464 10831838;19291786;19204163;19008260;18953438;18781151;18543251;18004786;17662025;16740002;16335952;16303743;16169070;15489334;14702039;12975309;12754519;12477932;12359426;12191016;12133958;12029628;20842452;20501332;20570408;20574532;20592574;19403029;19399652;17207965;16344560;17998437;18029348;19596473;19749441;20379614;22719994;23418424;21503570;21443671;21223806;21663469;21694465;21900206;21890473;22140547;22542941;23144154;22167654;23000965;23627036 51280 B3KNK9;C9J941;C9JYM4;F8WAT9;F8WDK7;Q8NBJ4 ABBA01016302;ABBA01016303;ABBA01016304;ABBA01016305;ABBA01034047;ABBA01034048;ABBA01034049;AF236056;AF460419;AF460486;AI929234;AJ420432;AJ426326;AK027717;AK074188;AK075542;AK075557;AK092943;AL161447;AL533767;AMYH01021473;AY358593;BC001740;BQ216766;CA446701;CH471089;CR457201;CS051441;CS300831;DA116177;NM_016548;NM_177937 AAF44663;AAH01740;AAM87790;AAM87857;AAQ88956;ADQ32385;BAB85012;BAC11685;BAG51371;BAG52167;CAD32484;CAG33482;CAI72214;CAK32495;EAW62705;EAW62706;NP_057632;NP_808800;Q8NBJ4 Hs.494337 1655759;1795936;2133641;2184880;5020948;5109281 D1S1425;D9S1015E;D9S1150;G35510;GOLPH2_983;STS-T95873 C9orf155;FLJ22634;FLJ23608;GOLPH2;GP73;PSEC0257;bA379P1.3 Golgi membrane protein 1;OTTHUMP00000021582;OTTHUMP00000021583;golgi membrane protein GP73;golgi phosphoprotein 2;golgi protein, 73-kD APPROVED protein-coding ENSG00000135052 15451 08428 606804 REVIEWED 1347625 GOLPH3L golgi phosphoprotein 3-like The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 123734457 123785433 - 148885330 148936257 - 150618701 150669672 - 6480464 16344560;14702039;12477932;11042173;17207965;20379614;23383273;19322201;21139048;21906983 55204 F5H4M3;Q5T5I6;Q9H4A5 ABBA01049351;ABBA01049352;AJ296153;AK001549;AK300635;AK315594;AL356292;AL356356;AMYH01001381;BC013870;BI550986;BQ130668;BQ268076;CH471121;DA513375;NM_018178 AAH13870;ADQ31898;BAA91750;BAG37966;BAH13319;CAC13125;EAW53526;EAW53527;NP_060648;Q9H4A5 Hs.740573 2152649;2219098 GPP34R__6650;WI-17524 FLJ10687;GPP34R GPP34-related protein;Golgi phosphoprotein 3-like;OTTHUMP00000032940;OTTHUMP00000032941 APPROVED protein-coding ENSG00000143457 24882 17048 612208 REVIEWED 1349293 GOLPH3 golgi phosphoprotein 3 (coat-protein) The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008] 5 5 5 p13.3 32006114 32055713 - 32160581 32210182 - 32124824 32174425 - 1580863;6480464 23132295;19553991;16263763;15489334;14702039;12477932;11042173;21451436;19624311;19837035;20026658;20379614;23500462;21822541;22675169;23006319;18029348;19322201;21499727;23056210;21139048;21890473;21906983;22972189;22190034;22905766;23027862;22745132 64083 D6REM1;Q9H4A6 ABBA01066728;ABBA01066729;AC022444;AC025178;AC025181;AJ296152;AK057544;AK075077;AK075156;AK092604;AK128510;AK293368;AK301588;AL133078;AMYH01014994;AMYH01014995;BC012123;BC033725;BC063586;CH471118;CQ783228;NM_022130 AAH12123;AAH33725;AAH63586;BAC11438;BAG51933;BAG52061;BAG52580;BAG54686;BAG56882;BAG63078;CAB61398;CAC13124;CAF86422;EAX10780;EAX10781;EAX10782;NP_071413;Q9H4A6 Hs.408909 1650818;1661970;1698824;1760509;1785474;2176222;5022578;5037552 D1S1423;D8S2279;RH102976;SHGC-143593;SHGC-149879;SHGC-58346;STS-N29862;STS-N34345 FLJ90675;GOPP1;GPP34;MIDAS Golgi phosphoprotein 3;OTTHUMP00000115847;coat protein GPP34;coat-protein;golgi peripheral membrane protein 1, 34 kDa;golgi protein;golgi-associated protein;mitochondrial DNA absence factor APPROVED protein-coding ENSG00000113384 15452 11007 612207 REVIEWED 1349948 GOLT1B golgi transport 1B 12 12 12 p12.1 26810081 26826721 + 21546067 21562357 + 21654699 21671337 + 6480464 11256614;16344560;15489334;12975309;12477932;12414650;11230166;10810093;10406798;12761501;17207965;21903422;21139048;21890473;21906983;19322201 51026 F5GWD8;F5GXH6;F5H6U7;G3V1U5;Q9Y3E0 AA910170;AB097020;ABBA01067969;ABBA01067970;ABBA01067971;AC006559;AF068292;AF151899;AK026999;AK309736;AK310889;AK311331;AK311920;AL136571;AMYH01004319;AY358975;BC012455;CH471094;CR457389;DA579356;NM_016072 AAD34136;AAF65181;AAH12455;AAQ89334;ADQ32664;BAC77373;BAG34861;CAB66506;CAG33670;EAW96439;EAW96440;EAW96441;EAW96442;EAW96443;NP_057156;Q9Y3E0 Hs.62275 1655324;1676334;1721333;2158670 G59666;RH44828;RH93879;STS-W19279 CGI-141;GCT2;GOT1;GOT1B;YMR292W OTTHUMP00000240151;OTTHUMP00000240152;germ cell tumor 2;hGOT1a;putative NF-kappa-B-activating protein 470;vesicle transport protein GOT1B APPROVED protein-coding ENSG00000111711 20175 13035 615078 VALIDATED 1606548 GON4L gon-4-like (C. elegans) 1 1 1 q22 128792451 128899881 - 153986134 154093596 - 155719510 155826972 - 6480464 17297563;18029348;16710414;16545939;15489334;14702039;12477932;11230166;10997877;8125298;20379614;21454521;22939629;17285227;19471022;21139048;21693764;17370265 54856 Q6PHZ4;Q7Z3L3 AB046826;AB195687;AB195688;AB232668;ABBA01016682;ABBA01016683;ABBA01016684;ABBA01016685;ABBA01016686;ABBA01016687;AK000210;AK022985;AK026693;AK098734;AK222851;AK315191;AL136565;AL139128;AL162734;AMYH01001432;AY335490;AY335491;AY335492;BC036740;BC052260;BC064933;BC071650;BC114629;BC115703;BC117557;BX537764;BX648043;BX648802;CH471121;NM_001037533;NM_032292 AAH36740;AAH52260;AAH64933;AAH71650;AAI14630;AAI15704;AAI17558;AAR01260;AAR01261;AAR01262;BAA91011;BAB13432;BAB14347;BAB15528;BAC05397;BAD96571;BAF51556;BAF51557;BAF51560;BAG37631;CAB66500;CAD97829;CAH10549;EAW53029;EAW53030;EAW53031;EAW53032;EAW53033;EAW53034;EAW53035;EAW53036;NP_001032622;NP_115668;Q3T8J9 Hs.656361 1669363;1672034;1686522;1723955;1851929;2132041;5015619;5015959;5022578;5037552 Cda1fe10;D10S2448;D11S3114;D1S1423;D8S2279;G34868;RH119632;RH12479;RH16489;WI-16155 DKFZp761I241;FLJ12923;FLJ20203;FLJ23040;GON-4;GON4;KIAA1606;MGC138817;MGC138818;RP11-101O6.1;RP11-243J18.4;YARP 2610100B20Rik;GON-4-like protein;OTTHUMP00000015935;OTTHUMP00000208356;OTTHUMP00000208357;YY1AP-related protein1;gon-4 homolog protein-coding ENSG00000116580 25973 13370 610393 VALIDATED 1603372 GORAB golgin, RAB6-interacting This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 1 1 1 q24.2 143610894 143632608 + 168767894 168789208 + 170501263 170522974 + 6480464;7240710 18997784;16710414;15781263;15489334;14702039;12783284;12477932;20849854;18029348;19681135;19951712;21832049;20598683;21988832 92344 B3KQ87;Q5T7V8;R4GMT2 ABBA01027944;AF143889;AK021814;AK057661;AK308339;AL162399;AMYH01001490;BC035999;BC047476;BC064945;CH471067;NG_012237;NM_001146039;NM_152281;NR_027397 AAD32702;AAH47476;AAH64945;BAB13903;BAG51949;EAW90878;EAW90879;EAW90880;NP_001139511;NP_689494;Q5T7V8 Hs.183702 5021920;5125425 SHGC-75882;ha3092 FLJ11752;GO;MGC51263;MGC70512;NTKLBP1;SCYL1BP1 N-terminal kinase-like-binding protein 1;NTKL-binding protein 1;OTTHUMP00000033164;OTTHUMP00000033165;RAB6-interacting golgin;SCY1-like 1 binding protein 1;SCY1-like 1-binding protein 1;SCYL1-BP1;SCYL1-binding protein 1;hNTKL-BP1 APPROVED protein-coding ENSG00000120370 25676 12144 231070;607983 REVIEWED 1348402 GORASP1 golgi reassembly stacking protein 1, 65kDa The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 p22-p21.33 39113095 39124134 - 39138091 39149130 - 1580863;6480464 15678101;16489344;15888544;15834132;15576368;15489334;15231748;14702039;12839990;12543795;12477932;12111718;11815631;11781572;11739402;11739401;11706049;11447294;11285137;11050165;9628863;9346242;10487747;19913121;20628086;20937827;19581411;19840934;20083603;20214750;17207965;21368855;20360068;21572988;21900206;21890473;16344560;21757827;23455922;21567396 64689 B3KPY8;B4E1H8;C9J0V5;C9J5S6;C9J9V9;C9JBH8;C9JI27;F8WD30;G3V0G1;H7C0J2;Q9BQQ3 ABBA01024812;AC138124;AI824080;AJ409349;AK001574;AK027096;AK057043;AK091168;AK124755;AK300271;AK303847;AMYH01013097;AW082955;BC008928;BC064624;BC075854;BC103826;BC103827;BM470731;CH471055;DB031221;NM_001278789;NM_001278790;NM_031899;NR_103866;NR_103867 AAH08928;AAH75854;AAI03827;AAI03828;ADQ31932;BAC03598;BAG51850;BAG54090;BAG62032;BAG64790;CAC35160;EAW64552;EAW64553;EAW64554;EAW64555;EAW64556;EAW64557;EAW64558;EAW64559;EAW64560;NP_001265718;NP_001265719;NP_114105;Q9BQQ3 Hs.721946 1774527;1774529;2112698;2115792;2126380;2141008;2141959;2141961;2153718;2163554;2191199;2219094 A001Z36;A006D28;D3S2482;D3S4409;G19825;G20726;GORASP1__6636;MARC_16103-16104:1018028206:1;RH12775;SHGC-30045;SHGC-30755;SHGC-76850 FLJ23443;GOLPH5;GRASP65;MGC118894;MGC118897;P65 Golgi peripheral membrane protein p65;Golgi phosphoprotein 5;Golgi reassembly and stacking protein 1;Golgi reassembly and stacking protein, 65 kDa;Golgi reassembly-stacking protein 1;OTTHUMP00000161966;OTTHUMP00000208958;OTTHUMP00000208961;golgi reassembly-stacking protein of 65 kDa APPROVED protein-coding 16769 06038 606867 REVIEWED 1319891 GOPC golgi-associated PDZ and coiled-coil motif containing This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 6 6 q21 117988125 118030374 - 117881432 117923705 - 1580863;6480464;7240710 11707463;11384996;18754678;17158866;16882988;16646955;16192284;16189514;16012170;15951434;15546864;15489334;15358775;15317815;15144186;14574404;14570915;12885772;12661006;12538861;12477932;12471024;12372286;12149515;11520064;11162552;9843494;21110914;20130090;16316992;16344560;18029348;17207965;22939629;21105033;22863883;21543871;19071123;21906983;19860857;18468998;21988832;23266556 57120 F5H1Y4;Q9HD26 AB209385;ABBA01026037;ABBA01026038;AF287894;AF450008;AJ420540;AK025074;AK314486;AL589939;AMYH01016620;AY033606;BC009553;BX419592;CH471051;DA109449;NM_001017408;NM_020399;Z85999 AAG00572;AAH09553;AAK57733;AAL47160;ADQ31799;BAD92622;EAW48204;EAW48205;NP_001017408;NP_065132;Q9HD26 Hs.191539 1650085;1653442;1721401;1849051;1849053;2115875;2129434;2160818 A005S47;AL022535;G20471;G59552;HSC1FH112;RH46698;RH47666;RH68126 CAL;FIG;GOPC1;PIST;dJ94G16.2 CFTR-associated ligand;Golgi associated PDZ and coiled-coil motif containing protein;Golgi-associated PDZ and coiled-coil motif-containing protein;OTTHUMP00000017087;OTTHUMP00000017088;PDZ protein interacting specifically with TC10;PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10;dJ94G16.2 PIST;fused in glioblastoma APPROVED protein-coding ENSG00000047932 17643 06024 102530;606845 VALIDATED 1347290 GOT2P1 glutamic-oxaloacetic transaminase 2 pseudogene 1 1 1 1 p32.3 54122369 54123678 + 55605726 55607035 + 55833138 55834447 + 645538 ABBA01074696;AL049710;AMYH01000641;NG_008826 GOT2L1 APPROVED pseudo 4434 INFERRED 1344778 GOT2P2 glutamic-oxaloacetic transaminase 2 pseudogene 2 1 1 1 q25.1 146219503 146220975 - 171376862 171382088 - 173110039 173111511 - 391139 ABBA01027910;AL022310;AMYH01001501;NG_008831 1702160 GDB:451676 GOT2L2 APPROVED pseudo 4435 INFERRED 1602185 GOT1L1 glutamic-oxaloacetic transaminase 1-like 1 8 8 8 p11.23 36743506 36749358 - 37910957 37916804 - 37791799 37797647 - 6480464 17494625;12477932;22360420;22952844 137362 E5RI59;E5RJX9;Q8NHS2 ABBA01023564;AC130304;AMYH01018652;BC029504;BM559469;CH471080;FJ695190;HC902758;HC914859;NM_152413 AAH29504;CBN65834;CBN71667;EAW63345;EAW63346;NP_689626;Q8NHS2 Hs.380740 5112157 RH102015 MGC33309 OTTHUMP00000225620;glutamate oxaloacetate transaminase 1-like protein 1;putative aspartate aminotransferase, cytoplasmic 2;transaminase A-like protein 1 protein-coding ENSG00000169154 28487 14558 VALIDATED 1351834 GOT2P3 glutamic-oxaloacetic transaminase 2 pseudogene 3 12 12 12 p13.31 14955684 14957225 + 9678713 9686874 + 9794266 9795807 + 644138 ABBA01067793;AC010186;AMYH01004275;NG_008820 GOT2L3;GOT2L3P APPROVED pseudo 4436 INFERRED 3007026 GOT2P4 glutamic-oxaloacetic transaminase 2 pseudogene 4 12 12 12 p12.3 21810049 21811579 + 16557593 16558871 + 16666274 16667804 + 121520 ABBA01067905;AC007552;AMYH01004305;NG_008829 GOT2L4 pseudo 22936 INFERRED 736034 GORASP2 golgi reassembly stacking protein 2, 55kDa This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 2 2 q31.1 171493957 171531886 + 171784948 171823645 + 632865;6480464 10487747 18434598;17081983;16964243;16501559;16189514;15489334;14702039;12477932;11815631;11739402;11739401;11408587;11101516;8125298;19734545;19840934;20083603;20608975;18385516;21235525;21832049;22863883;22939629;18029348;21900206;21139048;16713569;19361449 26003 B4DKT0;F8WBR9;F8WEG2;F8WEH9;F8WF79;Q9H8Y8 ABBA01014921;AC010092;AI052563;AK023082;AK023201;AK027202;AK027349;AK125761;AK225810;AK293640;AK296698;AK298020;AK298771;AK315508;AL117430;AMYH01011259;BC001408;BC007770;BG034906;BQ004408;CH471058;DC399516;NM_001201428;NM_015530 AAH07770;AAY15076;ABM83641;ABM86891;BAB14395;BAB14459;BAB55054;BAG57095;BAG59292;BAG60323;BAG60913;CAB55919;EAX11225;EAX11226;EAX11227;NP_001188357;NP_056345;Q9H8Y8 Hs.431317 1768305;1856302;2130464;2144606;2144608;5119150 A005Y03;D2S1957E;D2S2857;G20588;NIB308;WI-16146 DKFZp434D156;FLJ13139;GOLPH6;GRASP55;GRS2;p59 Golgi reassembly-stacking protein 2;OTTHUMP00000204996;golgi phosphoprotein 6;golgi reassembly stacking protein 2;golgi reassembly-stacking protein of 55 kDa APPROVED protein-coding ENSG00000115806 17500 08303 608693 REVIEWED 731739 GOSR2 golgi SNAP receptor complex member 2 This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21 41450000 41468246 + 42355485 42373732 + 45000486 45018733 + 68203;1580863;6480464;6484113 9349823 19057520;16341674;15781476;15489334;12477932;11927603;11035026;10198168;9647643;9094723;10903204;19584346;20379614;21076409;21549339;21832049;21139048;21909110;21909115;23449775 9570 E7EQ34;I3L0K1;I3L1K7;I3L3V4;I3L4Z6;I3NI02;O14653 ABBA01041106;AC005670;AF007548;AF229796;AK290890;AMYH01008444;BC009710;BC034762;BM846811;CH471231;NG_031806;NM_001012511;NM_004287;NM_054022 AAB82651;AAH09710;AAH34762;AAK01855;ABM82387;ABM85564;BAF83579;EAW57694;EAW57695;EAW57696;EAW57697;EAW57698;EAW57699;EAW57700;NP_001012529;NP_004278;NP_473363;O14653 Hs.463278 1665069;2129614;2134073;5024179 RH70724;SHGC-63525;STS-W44434;WI-15652 Bos1;EPM6;GS27 27 kDa Golgi SNARE protein;Golgi SNAP receptor complex member 2;membrin APPROVED protein-coding ENSG00000108433 4431 04937 604027;614018 REVIEWED 3436159 GOT2P5 glutamic-oxaloacetic transaminase 2 pseudogene 5 Y Y 2509753 2510306 - 6705740 6706293 + 100422625 ABBA01034872;AC013412;NG_021934 GOT2Y pseudo 38439 INFERRED 737606 GOSR1 golgi SNAP receptor complex member 1 This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q11 25828552 25877958 + 28804426 28853832 + 70749;1298632;1580863;6480464 8638159;9653160 10747018;15215310;8636227;16571679;15489334;15004235;14702039;12477932;12388752;11042152;10198168;11927603;12121660;9647643;9325254;9094723;22397410;20562859;20700730;21832049;22939629;21669198;21139048;21890473;21906983 9527 B4DQA8;E9PCW1;F6RU00;G5E9T8;K7EJC8;O95249 ABBA01015000;ABBA01015001;AC006050;AC011840;AF047438;AF073926;AF229797;AK000606;AK074298;AK128816;AK291381;AK298714;AL049346;AMYH01008304;BC012620;BC040072;BC040471;BE785872;BG654545;CB054624;CH471159;NM_001007024;NM_001007025;NM_004871 AAC39889;AAD12945;AAH12620;AAH40471;AAK01856;BAF84070;BAG60870;EAW51229;EAW51230;EAW51231;NP_001007025;NP_001007026;NP_004862;O95249 Hs.462680 1659585;1683799;1686652;1724797;1754405;2141509;2168600;2176349;5015619;5016478;5016596;5022651;5037552;5037670 D11S2921;D11S3114;D17S2120;D3S4354;D8S2279;GDB:434012;GDB:631802;RH122605;RH65670;RH91424;SHGC-132420;SHGC-31113;SHGC-33031;SHGC-33050 GOLIM2;GOS-28;GOS28;GOS28/P28;GS28;P28 28 kDa Golgi SNARE protein;28 kDa cis-Golgi SNARE p28;Golgi SNAP receptor complex member 1;Golgi SNARE 28 kDa;OTTHUMP00000163683;cis-golgi SNARE;golgi integral membrane protein 2 APPROVED protein-coding ENSG00000108587 4430 604026 REVIEWED 736629 GP5 glycoprotein V (platelet) Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010] 3 3 q29 195596839 195601284 - 194115550 194119995 - 1580863;1580446;6480464;6907045 11487006 7690959;1939645;8608228;10429193;18612104;18450753;16263699;16179345;15691827;15477207;11686325;9425086;9326233;9269768;9129030;8519770;8407908;7900083;7782333;2372284;2350580;1730602;19874464;20379614;8467233;12855811;9616133;10887121;19913121;20628086;21529934 2814 D1MER9;P40197 ABBA01001628;AC125362;AMYH01013780;CH471052;GU138099;HI552221;L11238;NM_004488;Z23091 AAA03069;AAI52811;ACZ44929;CAA80637;CBX54456;EAW78053;NP_004479;P40197 Hs.73734 1772501;1849963 RH17612;SHGC-35238 CD42d;GPV GPV;OTTHUMP00000197119;glycoprotein 5;platelet glycoprotein V APPROVED protein-coding ENSG00000178732 4443 01431 173511 VALIDATED 735827 GOT1 glutamic-oxaloacetic transaminase 1, soluble Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008] 10 10 q24.1-q25.1 101146618 101180336 - 101156627 101190530 - 1580863;1300048;2302802;6480464;6907045 2966075 2241899;2182221;2731362;6391741;8396422;7060339;19393479;19370784;19012630;18752324;18242760;17907318;16681433;16344560;15489334;15306699;15164054;12480555;12477932;10360399;9110174;8619474;6397370;3207426;2777255;2225456;1974457;225064;8349677;20205615;16169070;17877759;20201926;20029029;20499337;20972737;22863883;21750724;22132177;17623298;21139048;21906983;21900944;22242166;22412388;22352690;19805454;21963094;21988832 2805 B7Z7E9;P17174 ABBA01063248;ABBA01063249;ABBA01063250;AF052153;AF080467;AK293483;AK301916;AK309174;AK312684;AL391684;AMYH01002989;AY513279;BC000498;CH471066;DA581933;EB387028;HB922155;HC979564;M37400;NG_032044;NM_002079 AAA35563;AAC28622;AAC32851;AAH00498;AAT08032;BAG35564;BAH11518;BAH13585;CBF96059;CBV09579;EAW49868;EAW49869;NP_002070;P17174 Hs.500756 1651588;1736036;1742237;1767099;2132754;2190825 D10S1309E;D10S2167;D10S2414;GDB:193865;GOT1;RH47701 ASTQTL1;GIG18;cAspAT;cCAT OTTHUMP00000020254;aspartate aminotransferase 1;aspartate aminotransferase, cytoplasmic;aspartate transaminase 1;cysteine aminotransferase, cytoplasmic;cysteine transaminase, cytoplasmic;glutamate oxaloacetate transaminase 1;growth-inhibiting protein 18;transaminase A APPROVED protein-coding ENSG00000120053 4432 00687 138180;614419 REVIEWED 1345881 GP1BB glycoprotein Ib (platelet), beta polypeptide Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010] 22 22 q11.21 18091066 18092297 + 19711066 19712297 + 1580863;1580446;6480464;6907045;7240710 11487006 11943773;3353370;12871509;1939645;8608228;18825380;18752571;18674540;18637125;17922811;17597992;15477207;15213102;12958615;12860973;12665801;12648286;12529755;12522011;12477932;12463594;12361948;12036872;11816714;11816713;11812775;10887115;10627461;10429193;9425086;9116284;9022087;8703016;8200976;8034572;8021244;7782333;7690959;3632685;3161731;2557900;2504723;9454760;18064328;22343686;20946164;20667040;19484238;19566547;19570064;4044584;8467233;9611266;12855811;10887121;21037087;21507943;21529934;21908432;21699652 2812 P13224 AB086231;ABBA01005406;AC000093;AF006988;AMYH01012479;AMYH01012480;HI552219;J03259;NG_007974;NM_000407 AAA52594;AAC39781;AAI60146;BAC00777;CBX54455;NP_000398;P13224 Hs.283743 1686022;2106571;2114032;5493771 AB056419;PNUTL1__5740;RH15728;UniSTS:494724 BDPLT1;BS;CD42c;GPIBB GP-Ib beta;GPIb-beta;GPIbB;OTTHUMP00000197415;antigen CD42b-beta;nuclear localization signal deleted in velocardiofacial syndrome;platelet glycoprotein Ib beta chain APPROVED protein-coding 4440 00729 138720;231200 REVIEWED 737446 GP2 glycoprotein 2 (zymogen granule membrane) 16 16 p12 20229312 20246336 - 20321811 20338835 - 1580863;6480464 16000323;12477932;12324456;11853552;11039464;10760606;8666297;7519402;7503984;2076702;2011597;1651706;1531535;1284286;9605860;18029348;19627615;19907495;19919903;19959969;20335779;20383146;21190681;20964870;22344219;22891285 2813 I3L2Z7;I3L324;I3L3I2;I3L486;I3L4Y3;P55259;Q8N1A3 AB035541;AB035542;AB135541;AB135542;ABBA01028278;AC106796;AK293384;AK312277;AMYH01007328;BC032693;BG661274;BX646730;BX647831;BX648023;BX648201;BX649067;CH471186;CR749600;D38225;NM_001007240;NM_001007241;NM_001007242;NM_001502;U36221 AAB19240;AAH32693;BAA07400;BAA88166;BAA88167;BAG35207;BAH11498;CAH18396;EAW50310;EAW50311;EAW50312;EAW50313;NP_001007241;NP_001007242;NP_001007243;NP_001493;P55259 Hs.53985 1776392;2110431 GP2__7529;RH70614 DKFZp779K0533;ZAP75 OTTHUMP00000162214;pancreatic secretory granule membrane major glycoprotein GP2;pancreatic zymogen granule membrane associated protein GP2;pancreatic zymogen granule membrane protein GP-2 protein-coding ENSG00000169347 4441 04279 602977 VALIDATED 1345601 GPAA1P1 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 2 2 2 q13 102784554 102785773 + 110098834 110100053 + 110741545 110742764 + 1331365 10393431 22945 AB017268;AC013268;NG_001245 pseudo 4447 INFERRED 1351167 GP9 glycoprotein IX (platelet) This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008] 3 3 q21.3 130262335 130263939 + 128779645 128781253 + 1599275;1580863;1580446;6480464;6907045;7240710 8481514;11487006 17474147;9432024;2771955;1939645;8608228;10429193;19404517;18674540;18638089;18612104;18450753;18057877;17922811;17804902;17763149;15477207;15351858;14510954;12665801;12477932;12463594;12447957;12361948;12100158;12036872;11812775;11758225;11686325;11167791;10583255;9886312;9269768;9184424;9163595;8811076;8429020;8049428;7782333;3056407;2557900;2436691;2253772;19377075;19558434;19566547;19874464;8467233;10887121;12855811;17192395;21507943;21529934;21699652;21908432;19060904;23088713;23143686 2815 O43705;P14770 AA701315;ABBA01020921;ABBA01020922;AC108673;AMYH01013469;BC030229;CH471052;D88290;D89621;HI552223;M25827;M80478;NG_008715;NM_000174;X52997 AAA36809;AAB40042;AAH30229;ABM84263;ABM87654;BAA13580;BAA24428;CAA37186;CBX54457;EAW79285;NP_000165;P14770 Hs.1144 2107173 GP9__7532 CD42a;GPIX GP-IX;OTTHUMP00000217111;glycoprotein 9;platelet glycoprotein IX APPROVED protein-coding ENSG00000169704 4444 01432 173515;231200 REVIEWED 734091 GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008] 16 16 q21 57298536 57325747 - 58741035 58768246 - 1580863;1300048;2302802;6480464;6907045 2966075 4052435;2182221;2567216;2731362;9537447;17728674;17442055;16212419;15489334;14702039;12477932;8125298;7559589;7225087;7114792;22713574;6930651;6397370;5450376;3997814;3207426;2899080;2777255;752471;376500;16169070;17353931;17877759;19305408;19834535;8349677;20877624;12601813;21223598;18781797;20360068;21081666;21139048;21890473;21900206;21906983;21319273;21963094;23000965 2806 E7ERW2;H3BRE7;P00505 ABBA01025314;ABBA01025315;AC012183;AK098313;AK223271;AK290847;AK295993;AK302249;AK307598;AL516773;AMYH01007718;BC000525;CH471092;M22632;NM_002080 AAA35568;AAH00525;ABM82809;ABM85994;BAD96991;BAF83536;BAG53610;BAG58768;BAG63601;EAW82988;EAW82989;NP_002071;P00505 Hs.599470 1702160;1730303;1736554;1847232 D16S2550E;D16S3316;D16S427E;GDB:451676 FLJ40994;KAT4;KATIV;mitAAT FABP-1;FABPpm;OTTHUMP00000165254;aspartate aminotransferase 2;aspartate aminotransferase, mitochondrial;aspartate transaminase 2;fatty acid-binding protein;glutamate oxaloacetate transaminase 2;kynurenine aminotransferase 4;kynurenine aminotransferase IV;kynurenine--oxoglutarate transaminase 4;kynurenine--oxoglutarate transaminase IV;mAspAT;plasma membrane-associated fatty acid-binding protein;transaminase A APPROVED protein-coding ENSG00000125166 4433 00684 138150 REVIEWED 1321026 GP1BA glycoprotein Ib (platelet), alpha polypeptide Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. [provided by RefSeq, Mar 2010] 17 17 pter-p12 4776372 4779067 + 4835592 4838325 + 1580432;1580433;1580444;1580446;1580863;6480464;6907045;7240710;7242688;7242686 15269835;14592833;7690774;11487006;12185480;21411989 3353370;15297306;1939645;8608228;19420105;19388931;19336370;19250145;19132198;19110485;19082798;19067792;19017648;19008959;19002047;18848323;18815197;18792563;18791947;18725999;18674540;18612104;18550847;18528467;18502778;18489431;18450753;18417193;18403734;18383324;18339097;18283530;18260892;18225582;18057877;17962622;17922811;17873907;17786291;17763149;17728329;17634946;17630485;17619827;17598011;17597992;17494758;17414217;17408410;17379771;17346829;17303802;17261793;17196570;17143557;17105818;17100656;7721887;12855810;9410473;17096706;11776327;11776304;11751671;11700320;11698306;11686325;11583876;11514372;11437595;11418460;11307841;11260063;11222377;11167769;11159511;10899906;10801853;10627461;10499919;10429193;10391209;10089893;9651345;9639514;9454760;9269768;9088113;8631758;8486780;8400294;8384898;7873390;7819107;7690959;7632942;6336654;3759960;3497398;3303030;2946332;2933256;2845978;2628181;2557900;2436691;17083647;17029210;16986133;16806233;16774914;16723382;16373331;16263699;16260637;16179345;16118501;15978109;15933060;15892865;15841318;15564935;15546585;15512545;15501784;15489334;15477207;15386532;15375170;15355504;15346842;15319289;15317813;15311155;15249683;15166939;15054037;15045135;14968555;14961148;14711733;14675395;14639140;14521606;14521605;12952972;12881531;12871600;12871418;12855811;12791664;12724616;12719784;12665801;12637314;12590614;12522011;12499711;12477932;12463594;12393736;12362242;12183630;12091342;12087105;12082590;12073410;12070018;12038791;12036879;12036871;11994555;11981108;11943773;11937271;11859854;11858499;11858495;11812775;2070794;2052556;1730602;1730088;1702906;1586750;1577776;9092683;19778317;20498367;20216992;20725043;19913121;20520840;20532885;20628086;20667040;20673868;20735720;11024046;11739968;19181367;19448529;19515580;19558434;19562259;19570064;19578796;19591434;19619477;19656281;19702628;19718474;19726719;19729601;19740098;19751194;19820200;19840363;19948007;20063990;20076847;20149160;20157117;20161734;20227257;20452482;20472470;8467233;9425086;20696943;15039442;20153024;20367574;20158380;20139978;10887121;21156842;17192395;22922961;21552524;21602602;21699652;22102188;21507943;21529934;21933849;22174152;19443707;22517896;21993687;22196864;21988832;23014764;23611001;22139419;23143686 2811 E7ES66;P07359 AB038516;AB086948;AB576651;AB576652;AB576653;AB576654;AB576655;ABBA01054784;AC109333;AC233723;AF395009;AM709890;AMYH01008043;BC027955;BE463855;CH471108;D85894;GU133003;J02940;L39103;M22403;NG_008767;NM_000173;S34436;S34439 AAA52595;AAA52596;AAA69491;AAB22152;AAB22153;AAH27955;AAK71325;ABM81869;ABM85031;ACY72565;BAA12911;BAB12038;BAC10305;BAJ15417;BAJ15418;BAJ15419;BAJ15420;BAJ15421;CAM97225;EAW90393;NP_000164;P07359 Hs.1472 1777848;1792964;2115388 D17S1969;PMC17834P1;STS-J02940 BDPLT1;BDPLT3;BSS;CD42B;CD42b-alpha;DBPLT3;GP1B;GPIbA;MGC34595;VWDP GP-Ib alpha;GPIb-alpha;GPIbA;antigen CD42b-alpha;glycoprotein Ibalpha;platelet glycoprotein Ib alpha chain;platelet membrane glycoprotein 1b-alpha subunit APPROVED protein-coding ENSG00000185245 4439 01976 153670;177820;231200;258660;606672 REVIEWED 1343427 GP6 glycoprotein VI (platelet) This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 19 19 q13.4 60216885 60241444 - 55525073 55549632 - 1580863;6480464;6907045;7242710 20651232 11027634;10822077;9153205;9028946;9280292;9295288;19420105;19336370;19278955;19235048;19190951;19164598;19132198;18983487;18955485;18848323;18795891;18569861;18528467;18431526;18419742;18382762;18064326;17958751;17848620;17764536;17663743;17110603;17105818;17096705;17085439;17068334;16956881;16876821;16861347;16847120;16493486;16405521;16219796;16113793;16102042;16080811;16014566;15946524;15939050;15923400;15886326;15841318;15701720;15701717;15507524;15489334;15466473;15456756;15339851;15308568;15306180;15280902;15277394;15265786;15231520;15203713;15203711;15142951;15057824;14656994;14563646;14504096;12871362;12871331;12850831;12847105;12649139;22431567;12594225;12560230;12477932;12377757;12362238;12359731;12356768;12049640;12010829;11990697;11964287;11943772;11825911;10961879;10825177;10506151;2808700;1715582;20723025;20414836;20526338;19913121;20628086;20691446;20723028;8617742;19030108;19209849;19228693;19465689;19530321;19578796;19583823;19622836;19630798;19700402;19740098;19786296;19815551;19850043;20007810;20162250;20227257;20237496;20379614;20400514;20367574;20351310;20828795;20002543;20040043;20122713;20522022;20585042;21193745;22821001;21252089;21552524;22489915;19065783;19549989;20110505;23185356;22114104;21718237;22238212;22901851;20071043;22155453;22274761;23168074;20946164;22773837;23132859 51206 K7EIW7;Q9HCN6 AB035073;AB043819;AB043820;AB043821;AB043943;ABBA01068132;ABBA01068133;ABBA01068134;ABBA01068135;AC011476;AF521646;AMYH01009978;AMYH01009979;AMYH01009980;BC069485;BC104832;BC111963;BQ216894;CH471135;NG_031963;NM_001083899;NM_001256017;NM_016363 AAI04833;AAI11964;AAN86273;BAA89353;BAB12245;BAB12246;BAB12247;BAB12248;EAW72324;EAW72325;EAW72326;NP_001077368;NP_001242946;NP_057447;Q9HCN6 Hs.661752 1336474;5016781;7185367 D19S418;SHGC-67307 BDPLT11;GPIV;GPVI;MGC138168 OTTHUMP00000216288;OTTHUMP00000216289;OTTHUMP00000216290;glycoprotein 6;platelet collagen receptor;platelet glycoprotein VI APPROVED protein-coding ENSG00000088053 14388 10406 605546;614201 REVIEWED 1315484 GPA33 glycoprotein A33 (transmembrane) The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008] 1 1 1 q24.1 140127216 140164992 - 165288706 165326492 - 167022082 167059868 - 1580863;6480464 9012807;19064610;18236042;17227111;15489334;12853980;12477932;12114523;9542130;9245713;19536175;20379614;17207965;21044950;23294608;22623777;22623782 10223 E9PMB2;Q99795 ABBA01047253;AK312833;AL158837;AMYH01001480;BC069705;BC069723;BC069745;BC069761;BC069789;BC074830;BC074876;BC107164;BC107165;CH471067;NM_005814;U79725 AAC50957;AAH69705;AAH69723;AAH69745;AAH69761;AAH69789;AAH74830;AAH74876;AAI07165;AAI07166;ADQ31934;BAG35687;EAW90783;NP_005805;Q99795 Hs.651244 1692558;1699962;2107175;2150236 AL033926;GPA33__7533;RH103589;SHGC-53101 A33;MGC129986;MGC129987 OTTHUMP00000032346;cell surface A33 antigen;transmembrane glycoprotein A33 APPROVED protein-coding ENSG00000143167 4445 03704 602171 REVIEWED 1345985 GPAM glycerol-3-phosphate acyltransferase, mitochondrial This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 q25.2 113899612 113933508 - 113909622 113943537 - 1580863;2313652;2313659;6480464;6907045 18614621;9032096 2242030;11546763;18238778;19209188;18660489;16381901;16344560;15489336;15164054;12477932;11230166;11076863;10997877;9434961;8369314;2303421;22070544;8944226;20877624;16385451;20453000;21832049;21906983;20686565;22634312 57678 Q5VW52;Q86T70;Q8N1G6;Q9HCL2 AB046780;ABBA01063006;AK025752;AK172782;AK172799;AL391986;AL598680;AL832464;AL833061;AL833093;AMYH01003072;BC030783;BQ694715;BX647451;CH471066;DA313962;DA728196;DA802170;DB197687;NM_001244949;NM_020918 AAH30783;BAB13386;BAD18763;BAD18772;CAD89932;CAD89967;CAL37491;EAW49543;EAW49544;EAW49545;NP_001231878;NP_065969;Q9HCL2 Hs.42586 1703588;1711980;1851358;2146926;2176421;2178567 RH118441;RH79105;SHGC-64743;STS-F04204;STS-H98829;STS-N63655 GPAT;GPAT1;KIAA1560;MGC26846;RP11-426E5.2 GPAT-1;OTTHUMP00000020486;OTTHUMP00000020487;glycerol 3-phosphate acyltransferase, mitochondrial;glycerol-3-phosphate acyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000119927 24865 03865 602395 REVIEWED 1318991 GPATCH1 G patch domain containing 1 19 19 19 q13.11 30265376 30314942 + 38263626 38313158 + 33571786 33621318 + 737633;6480464 12477932 14702039;20379614;11991638;21832049;22939629;22963587;21139048;22504420 55094 K7EQ19;K7ES97;Q9BRR8 ABBA01039610;ABBA01039611;ABBA01039612;ABBA01039613;ABBA01039614;ABBA01039615;AC008521;AF434677;AK001068;AK091835;AK096005;AK292503;AK315712;AL834465;AMYH01009700;AMYH01009701;BC006108;NM_018025 AAH06108;AAN63596;BAA91489;BAF85192;BAG38071;CAD39124;NP_060495;Q9BRR8 Hs.466436 5020948;5037552 D8S2279;G35510 ECGP;FLJ10206;FLJ34516;FLJ38686;GPATC1 G patch domain-containing protein 1;evolutionarily conserved G patch domain containing;evolutionarily conserved G-patch domain containing;evolutionarily conserved G-patch domain-containing protein protein-coding ENSG00000076650 24658 11008 PROVISIONAL 1601718 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial 2 2 2 q11.1 91128633 91141666 - 96051421 96064454 - 96687694 96700727 - 6480464;6907045 16344560;12477932;17689486;18658143;21906983 150763 C9JYV5;E9PE95;Q6NUI2 ABBA01030081;AC013272;AK122580;AK122734;AK131194;AK131197;AK298131;AK302887;AK302918;AMYH01010715;BC042847;BC064574;BC068596;CB961934;CH471207;CH878726;DB168291;NM_207328 AAH68596;BAC56921;BAC85508;BAD18390;BAD18392;BAG60411;BAG64065;BAG64083;EAW53911;EAW71391;EAW71392;EAW71393;EAW71394;NP_997211;Q6NUI2 Hs.348629;Hs.679801 1685548;1740117;1751263;2156152;2165582;2177997 D2S2136;RH26381;RH35908;RH79204;SGC35015;SHGC-105076 CT123 GPAT-2;OTTHUMP00000207415;OTTHUMP00000207416;OTTHUMP00000207417;cancer/testis antigen 123;glycerol-3-phosphate acyltransferase 2, mitochondrial;xGPAT1 protein-coding ENSG00000186281 27168 14089 VALIDATED 1318884 GPATCH2 G patch domain containing 2 1 1 1 q41 190827684 191027875 - 215670457 215871032 - 217603834 217804409 - 737633;1580863;6480464 12477932 19432882;17081983;15489334;15375528;14702039;21546767;20379614;19389623;22589738 55105 Q6PIX0;Q9NW75 ABBA01048113;ABBA01048114;ABBA01048115;ABBA01048116;AC096641;AK001114;AK024701;AK291238;AK310304;AL354659;AMYH01001731;BC027719;BC042193;BC063474;CH471100;CS401370;NM_018040 AAH27719;AAH42193;AAH63474;BAA91509;BAF83927;CAL40333;EAW93333;NP_060510;Q9NW75 Hs.420757 1644091;1663956;1670445;1685860;1692464;1699536;1708432;1851219;2107177;2129708;2145538;2159700;2182946;2186681 AL009396;AL033883;D1S1553;GPATC2__7534;RH103365;RH70655;RH94041;SHGC-53731;SHGC-76358;SHGC-76370;SHGC-76371;SHGC-76374;SHGC-83915;STS-AA026113 CT110;FLJ10252;FLJ21048;GPATC2;MGC74998;PPP1R30;RP11-361K17.1 G patch domain-containing protein 2;OTTHUMP00000000554;cancer/testis antigen 110;protein phosphatase 1, regulatory subunit 30 protein-coding 25499 07657 PROVISIONAL 1353728 GPAA1 glycosylphosphatidylinositol anchor attachment 1 Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008] 8 8 q24.3 145209512 145213107 + 145137524 145141119 + 1580863;6480464;6907045 14660601;9468317;10793132;11483512;15713669;12052837;1846368;18028549;16642471;15489334;12802054;12582175;12477932;10393431;9828142;16169070;22939629;21139048;21890473;21906983;21886157;22505724 8733 E9PLG8;E9PLV6;E9PM11;E9PM94;E9PPZ9;E9PQ31;O43292 AB002135;AB002137;AB006969;AB017267;ABBA01005225;AC109322;AK312759;AL157437;AMYH01019126;BC003171;BC004129;BC006383;CH471162;CQ834368;NM_003801 AAH03171;AAH04129;AAH06383;ABM85965;ABW03763;BAA24035;BAA82587;BAA82588;BAA82590;BAG35625;CAB75660;CAH05399;EAW82161;EAW82162;EAW82163;EAW82164;EAW82165;NP_003792;O43292 Hs.627962 1735742;5127633 D8S1358E;RH47058 GAA1;hGAA1 GAA1 protein homolog;GPAA1P anchor attachment protein 1 homolog;GPI anchor attachment protein 1;GPI transamidase subunit;OTTHUMP00000229757;OTTHUMP00000229760;anchor attachment protein 1 (Gaa1p, yeast) homolog;glycophosphatidylinositol anchor attachment 1;glycosylphosphatidylinositol anchor attachment 1 protein;glycosylphosphatidylinositol anchor attachment protein 1 homolog;gpaa1p anchor attachment protein 1 homolog (yeast) APPROVED protein-coding ENSG00000197858 4446 04334 603048 REVIEWED 1351664 GPB glycerol phosphatase, beta- 2833154 2816 4448 1321766 GPANK1 G patch domain and ankyrin repeats 1 This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010] 6 6 6 p21.3 33228083 33231384 - 31737841 31741142 - 31629006 31634060 - 1580863;6480464 18029348;19115949;18835879;16189514;15489334;14702039;14656967;14574404;12477932;2911734;2813433;19913121;20628086;19851445;20453000;16344560;21832049;22990118;18624398;21963094;22678362;22505724 7918 B0UZ51;B2RA66;F6QYZ9;F6STL4;F6UZA3;F6VF35;O95872 ABBA01038084;AF087962;AF129756;AJ420471;AK123707;AK314056;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BC008783;BC018875;BX511262;CH471081;CR354443;CR753842;CR759761;DA368924;NM_001199237;NM_001199238;NM_001199239;NM_001199240;NM_033177 AAD18082;AAH08783;ABM83602;ABM86844;BAB63387;BAG36763;EAX03467;EAX03468;EAX03469;EAX03470;EAX03471;NP_001186166;NP_001186167;NP_001186168;NP_001186169;NP_149417;O95872 Hs.247478;Hs.732291 1773416;2123770;2132093;5037552;5118877 D11S3745;D8S2279;RH16232;RH78482;STS-W74100 ANKRD59;BAT4;D6S54E;G5;GPATCH10 G patch domain and ankyrin repeat-containing protein 1;G patch domain and ankyrin repeats 1;G patch domain and ankyrin repeats-containing protein 1;G patch domain containing 10;HLA-B associated transcript-4;HLA-B-associated transcript 4;OTTHUMP00000029244;OTTHUMP00000029248;OTTHUMP00000070448;OTTHUMP00000070516;OTTHUMP00000174329;ankyrin repeat domain 59;ankyrin repeat domain-containing protein 59;g patch domain-containing protein 10;protein BAT4;protein G5 APPROVED protein-coding ENSG00000204438 13920 00810 142610 REVIEWED 1606673 GPATCH11 G patch domain containing 11 2 2 2 p22.2 37152623 37164767 + 37165165 37177206 + 37311594 37323738 + 6480464 15815621;15489334;14702039;12477932;12213963;21048031;17207965;21139048;21890473;20360068;15851553 253635 Q8N954 ABBA01074973;AC007899;AK095667;AK289504;AK294697;AMYH01010259;BC071798;BE876720;BM285380;BQ446347;BX647651;CD368364;CD723509;CH471053;NM_001278505;NM_174931 AAY24316;ADQ32025;BAC04602;BAF82193;BAH11850;EAX00410;EAX00411;NP_001265434;NP_777591;Q8N954 Hs.595250 2114812 RH68953 CCDC75;CENP-Y;CENPY;FLJ38348 G patch domain containing 11;OTTHUMP00000158584;OTTHUMP00000158585;centromere protein Y;coiled-coil domain containing 75;coiled-coil domain-containing protein 75;g patch domain-containing protein 11 APPROVED protein-coding 26768 08785 VALIDATED 1604390 GPATCH8 G patch domain containing 8 17 17 17 q21.31 39182234 39290985 - 39828175 39936328 - 42472645 42580957 - 6480464 17081983;16713569;16565220;15498521;15302935;12477932;10477733;9628581;16344560;19913121;20628086;19729601;16712791;20811636;21594610;21890473;22505724 23131 K7EKU0;K7EL52;K7EQK8;Q9UKJ3 AB011125;ABBA01028368;ABBA01028369;ABBA01028370;ABBA01028371;ABBA01028372;ABBA01028373;AC007722;AC103703;AF160252;AK025600;AMYH01008419;AMYH01008420;AMYH01008421;BC017808;BC024147;BC063601;BC136629;BC140010;BC144323;CA443965;CB161089;CD709791;CH471178;DB021837;NM_001002909;NR_036474 AAF03681;AAH24147;AAI36630;BAA25479;EAW51593;NP_001002909;Q9UKJ3 Hs.463129 1646134;1652974;1677832;1688186;1773499;2118141;2144398;2164147;5093526 A009Q13;BCD1485;D17S2112;G32769;L18248;RH76534;RH98757;SHGC-37109;STS-N55111 GPATC8;KIAA0553 G patch domain-containing protein 8 protein-coding 29066 11089 614396 VALIDATED 1606544 GPATCH4 G patch domain containing 4 1 1 1 q22 129635069 129642064 - 154830903 154837894 - 156564100 156571279 - 6480464 15635413;14702039;12477932;21145461;16344560;16712791;19913121;20628086;22990118;20360068;19471022;22190034 54865 A8KAG1;E9PAV9;E9PPY4;F2Z3C6;F8W895;Q5T3I0 ABBA01016653;AK000256;AK055377;AK125763;AK293026;AK301232;AL365181;AMYH01001437;BC032436;BC040147;BC056904;BE326312;BF669837;BM997996;BQ214732;CB109133;CH471121;DA087471;NM_015590;NM_182679 AAH32436;AAH40147;AAI52775;BAA91036;BAC86278;BAF85715;BAG62804;EAW52935;EAW52936;EAW52937;EAW52938;NP_056405;NP_872620;Q5T3I0 Hs.193832 1666869;1677172;1850512;2140887;2184095 RH15878;RH83;STS-M79075;WI-13531;WIAF-2182 GPATC4 G patch domain-containing protein 4;OTTHUMP00000031985;OTTHUMP00000031986;OTTHUMP00000231461 protein-coding ENSG00000160818 25982 13596 VALIDATED 1347677 GPATCH3 G patch domain containing 3 1 1 1 p35.3-p35.1 25614074 25624058 - 27089567 27099544 - 27216979 27226962 - 6480464 16710414;16344560;15489334;14702039;12477932 63906 H0Y5H5;Q5JYG5;Q96I76 ABBA01034933;AK022517;AK057930;AK303183;AK308100;AL034380;AL356390;AL833886;AMYH01000414;AW137695;BC007767;CH471059;CR936767;DA513389;NM_022078 AAH07767;ACE86929;ACE87616;BAB14074;BAG64277;CAD38742;EAX07783;NP_071361;Q96I76 Hs.10903 2115136 SHGC-74477 DKFZp686E0221;FLJ12455;GPATC3 G patch domain-containing protein 3;OTTHUMP00000004411 protein-coding ENSG00000198746 25720 07772 VALIDATED 736919 GPBAR1 G protein-coupled bile acid receptor 1 This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 2 2 q35 218833983 218836826 + 219125738 219128582 + 634464;1580863;6480464 12419312 17326144;17214962;17178880;16400329;15489334;14702039;12524422;12477932;12044878;19582812;19716570;19723493;19944697;12036966;23566200;18577758;20811628;20623999;21212509;21754919;21691102;21691103;21691110;21883702;22236403;23238937;23523790;22550135;23022524 151306 Q8TDU6 AB083601;AB086170;AB089307;ABBA01023875;AC021016;AK122658;AK122660;AMYH01011494;BC033625;BI834364;CH471063;FJ695195;NM_001077191;NM_001077194;NM_170699 AAH33625;ABM82266;ABM85448;BAB89314;BAC55235;BAC65343;BAG53647;BAG53648;EAW70598;NP_001070659;NP_001070662;NP_733800;Q8TDU6 Hs.160954 5014609 RH48755 BG37;GPCR;GPCR19;GPR131;M-BAR;MGC40597;TGR5 G-protein coupled bile acid receptor 1;G-protein coupled bile acid receptor BG37;G-protein coupled receptor GPCR19;OTTHUMP00000225874;OTTHUMP00000225875;OTTHUMP00000225876;hBG37;hGPCR19;membrane bile acid receptor;membrane-type receptor for bile acids APPROVED protein-coding ENSG00000179921 19680 17050 610147 REVIEWED 1318945 GPATCH2L G patch domain containing 2-like 14 14 14 q24.3 56656362 56707266 + 75688012 75738887 + 76618259 76669134 + 6480464 17903302;16344560;15489334;14702039;12477932;10574461;20379614 55668 G3V276;G3V3M4;G3V4I8;G3V4L1;G3V553;G3V5D0;Q9NWQ4 AB032978;ABBA01030687;ABBA01030688;AC008015;AC016526;AK000696;AK000895;AK023523;AL712469;AMYH01005863;AU144095;AW005132;BC038835;BC058032;BE778470;BX387502;BX476104;CH471061;NM_017926;NM_017972 AAF03244;AAG38637;AAH58032;BAA86466;BAA91325;BAA91411;BAG51204;EAW81250;EAW81251;EAW81252;EAW81253;EAW81254;EAW81255;EAW81256;NP_060396;NP_060442;Q9NWQ4 Hs.410231 1340713;1687998;1690884;7183727 D14S270;RH91957;RH92951 C14orf118;FLJ10033;FLJ20689;MGC61896 G patch domain-containing protein 2-like;OTTHUMP00000246181;OTTHUMP00000246186;OTTHUMP00000246187;hypothetical protein LOC55668;uncharacterized protein C14orf118 APPROVED protein-coding ENSG00000089916 20210 16594 VALIDATED 1607008 GPBP1 GC-rich promoter binding protein 1 This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 5 5 5 q11.2 53424015 53515385 + 56505701 56594666 + 56469775 56560506 + 6480464 17672918;16381901;16344560;15489336;14612417;12842993;12477932;11256614;11230166;11076863;8889548;15146197;21139048;19060904;21988832 65056 D4PHA4;F5GY92;Q86WP2 ABBA01015772;ABBA01015773;ABBA01015774;ABBA01015775;ABBA01015776;AC008435;AC034244;AI200911;AK024807;AK307505;AK311625;AL136844;AL161991;AMYH01015098;AMYH01015099;AY226828;BC000267;BC070132;BC113004;BM985337;BQ023353;BU682723;CD657101;CH471123;CN358821;DB089516;DB271841;NG_029503;NM_001127235;NM_001127236;NM_001203246;NM_022913 AAH00267;AAH70132;AAI13005;AAO34124;BAB15013;CAB66778;CAB82324;CAL37429;CAL38320;EAW54961;EAW54962;EAW54963;EAW54964;EAW54965;EAW54966;NP_001120707;NP_001120708;NP_001190175;NP_075064;Q86WP2 Hs.444279 1648074;1665893;1700880;1848561;2142746;2162127;2190925 A002V17;MARC_11613-11614:1002743702:1;RH104066;RH45197;RH45335;WI-15946;WI-21467 DKFZp761C169;GPBP;MGC126339;SSH6;VASCULIN GC-rich promoter-binding protein 1;OTTHUMP00000221900;OTTHUMP00000221901;OTTHUMP00000221902;OTTHUMP00000221903;OTTHUMP00000224438;OTTHUMP00000227401;vascular wall-linked protein;vasculin APPROVED protein-coding ENSG00000062194 29520 16333 608412 REVIEWED 1605641 GPBP1L1 GC-rich promoter binding protein 1-like 1 1 1 1 p34.1 44376961 44436283 - 45865567 45899398 - 46092976 46152302 - 6480464 19322201;16344560;16189514;12477932 60313 Q9HC44 ABBA01050860;ABBA01050861;ABBA01050862;AF177334;AK024972;AK027212;AK225197;AL604028;AL834194;AMYH01000575;AMYH01000576;BC015713;BC022218;BC022863;BC052257;BC068578;BU627076;CH471059;DA243695;NM_021639 AAG17978;AAH15713;AAH22218;AAH52257;ABM83410;ABM86621;BAB15047;CAD38884;EAX06956;EAX06957;EAX06958;EAX06959;EAX06960;NP_067652;Q9HC44 Hs.743954 1754843;1768281;2127134;2128843;5123570 D1S3276;SHGC-141763;SHGC-74736;SHGC-74741;SHGC-74743 RP11-767N6.1;SP192 GC-rich promoter-binding protein 1-like 1;OTTHUMP00000038560;vasculin-like protein 1 protein-coding ENSG00000159592 28843 15418 VALIDATED 6481433 GPC5-AS2 GPC5 antisense RNA 2 100873970 AL157815 APPROVED miscrna 39887 6481434 GPC5-AS1 GPC5 antisense RNA 1 13 93353642 93373867 - 100873969 ABBA01027226;AL356737;AMYH01005295;BF942055;BI116573;CK904642;NR_046520;NR_049775;NR_049776 Hs.577863 APPROVED miscrna ENSG00000235984 39886 VALIDATED 6481126 GPC5-IT1 GPC5 intronic transcript 1 (non-protein coding) 100874293 AL159152 miscrna 41340 6481440 GPC6-AS1 GPC6 antisense RNA 1 100873972 AI698767;AL161426;AL354762;AW235508 Hs.670344 APPROVED miscrna 39909 6481437 GPC6-AS2 GPC6 antisense RNA 2 13 94470677 94510726 - 100873973 ABBA01027215;ABBA01027216;AL162455;AMYH01005299;AMYH01005300;BI827445;NR_046536 Hs.615939 APPROVED miscrna 39910 VALIDATED 730930 GPC1 glypican 1 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] 2 2 q35-q37 241023788 241056168 + 241375115 241407495 + 1580863;5510027;6480464;6484113 20231458 2148568;19023125;18634034;18536657;18064304;17016645;16723715;15547662;15489334;15297422;15249209;15084524;14702039;12972423;12477932;12084716;11968010;11454708;11375980;11336704;10527946;10364234;10196157;9802880;8125298;7774946;1417860;19166823;19479373;10892742;21932778;21265098;12732622;22863883;21139048;22351761 2817 C9J4Y6;H7BZE9;H7BZL4;H7C024;H7C410;P35052 AB209122;ABBA01048870;ABBA01048871;AC110619;AK095397;AK096638;AK223516;AMYH01011621;AMYH01011622;BC008123;BC027997;BC045712;BC051279;BG825129;CH471063;CS072948;NM_002081;X54232 AAH27997;AAH51279;AAY24160;BAD92359;BAD97236;BAG53043;BAG53345;CAA38139;CAI93681;EAW71180;EAW71181;EAW71182;EAW71183;EAW71184;NP_002072;P35052 Hs.328232 1678291;1694456;1781312;1781314;1781316;1781318;1781320;2219096 G31174;G31175;G31176;G31177;G31183;G42945;GPC1__6645;RH80235 FLJ38078;glypican OTTHUMP00000164497;OTTHUMP00000201548;glypican proteoglycan 1;glypican-1 APPROVED protein-coding ENSG00000063660 4449 02671 600395 REVIEWED 737615 GPC3 glypican 3 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] X X q26.1 132497439 132947332 - 132669773 133119673 - 704404;1580863;5510027;6480464;6484113;7240710 20231458 8589713;7657705;19513517;19496787;19329941;19231003;19215053;18976006;18813403;18813128;18785116;18511877;18469798;18462363;18413366;18277882;18264086;18029348;17949790;17949778;17603795;17581422;17549790;16682817;16675560;16299239;16227623;15772651;15475451;15083193;14661052;12824919;12816733;12478660;12477932;12085187;11893651;11320054;11193214;10814714;9950367;9931407;9853964;9787072;9630066;9371521;9339360;9133586;9021160;8125298;7909248;17087938;22298472;21410073;21438004;20725905;19838081;20546340;20701957;21187490;20653060;16344560;19141032;19243386;19405109;19574883;19793164;19816934;20845507;20301398;20803547;20868507;21303616;20964802;21822558;22706665;21371925;21493758;23060277;23598528;22865282;21429352;21847365;21586223;21617840;20950395;22449976;23471984;21890473;21906983;21919070;21556932;21655958;22026458;22382024;20301471;20301534;21937079;22448662;23327927;23079207;23084579;23192642;22119409;23114924 2719 B4DTD8;H0Y3U6;I6QTG3;P51654;Q53H15 ABBA01042350;ABBA01042351;ABBA01042352;ABBA01042353;ABBA01042354;ABBA01042355;ABBA01042356;ABBA01042357;ABBA01042358;ABBA01042359;ABBA01042360;ABBA01042361;ABBA01042362;ABBA01042363;ABBA01042364;ABBA01042365;ABBA01042366;ABBA01042367;ABBA01042368;ABBA01042369;ABBA01042370;ABBA01042371;ABBA01042372;ABBA01042373;ABBA01042374;ABBA01042375;ABBA01042376;ABBA01042377;ABBA01042378;ABBA01042379;ABBA01042380;ABBA01042381;ABBA01042382;ABBA01042383;ABBA01042384;ABBA01042385;ABBA01042386;ABBA01042387;ABBA01042388;AC002420;AF003529;AK222761;AK222766;AK300168;AK310196;AK310689;AL008712;AL009174;AL034401;AL662851;AMYH01022990;AMYH01022991;BC035972;BX329946;CH471107;CS208011;CS610131;DB107651;DQ349136;DQ349137;DQ349138;HB867196;JQ943686;L47124;L47125;L47176;NG_009286;NM_001164617;NM_001164618;NM_001164619;NM_004484;U50410;Z37987;Z97196;Z99570 AAA93471;AAA98131;AAA98132;AAB58806;AAB87062;AAH35972;ABC72125;ABC72126;ABC72127;ABM84584;ABM86748;AFM30911;BAD96481;BAD96486;BAG61950;CAA86069;CAJ44931;CAO00500;CBF57584;EAX11769;EAX11770;EAX11771;NP_001158089;NP_001158090;NP_001158091;NP_004475;P51654 Hs.644108 1643640;1645264;1649536;1651375;1651705;1658468;1660988;1661834;1662011;1671496;1691532;1691626;1691628;1702896;1703110;1732153;1748117;1748123;1748127;1748129;1748177;1748181;1748183;1748189;1771345;1772026;1850309;1851630;1853551;1858462;2114810;2118767;2124367;2125864;2126636;2135435;2135618;2136546;2138084;2151459;2152382;2152418;2159969;2161183;2167723;5093924;5119837;5127648 A009Z03;AL008945;AL008948;AL032559;AL032585;AL032586;DXS1414;DXS6842;DXS7314;DXS7315;DXS7596;DXS7764;DXS9777;G18198;G33003;G66651;G66652;G66656;G66657;G66688;G66690;G66691;G66692;GDB:182527;L47619;L76269;L77878;L77879;L77880;L77881;L77882;L77883;RH16248;RH17563;RH18522;RH36204;RH45404;RH68769;RH70004;RH79181;SHGC-34460;SHGC-34872;SHGC-35150;SHGC-35437;SHGC-52514;STS-H93110;UniSTS:99645;WI-16747 DGSX;GTR2-2;MXR7;OCI-5;SDYS;SGB;SGBS;SGBS1 OTTHUMP00000024058;OTTHUMP00000024059;glypican proteoglycan 3;glypican-3;heparan sulphate proteoglycan;intestinal protein OCI-5;secreted glypican-3 APPROVED protein-coding ENSG00000147257 4451 02074 194070;300037;312870 REVIEWED 731703 GPC2 glypican 2 7 7 7 q22.1 94502575 94510340 - 99605165 99612926 - 99767229 99774990 - 728608;1580863;5510027;6480464;6484113 8294498;20231458 11256614;16381901;15489336;15489334;14702039;12690205;12477932;11230166;11076863 221914 Q8N158 AACC02000084;ABBA01013228;ABBA01013229;AC073842;AK096281;AL834418;AMYH01017729;AY093588;BC027972;CH236956;CH471091;NM_152742 AAH27972;ABM84251;ABM87640;BAC04745;CAD39080;CAL37787;EAL23846;EAW76578;NP_689955;Q8N158 Hs.211701 DKFZp547M109;FLJ38962 OTTHUMP00000206907;cerebroglycan;glypican proteoglycan 2, cerebroglycan proteoglycan;glypican-2 protein-coding ENSG00000213420 4450 17051 PROVISIONAL 1347282 GPC4 glypican 4 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008] X X X q26.1 132821529 132935634 - 132262730 132376871 - 132435064 132549205 - 1580863;5510027;6480464 20231458 11336704;9787072;9931407;15772651;15489334;12975309;12477932;12009023;11066092;10814714;10585884;7657705;20562859;7925270;22644326;22761013;23455922;23667531;23824909;20301398;21565611;19884766 2239 B4E2C0;O75487 ABBA01042319;ABBA01042320;ABBA01042321;ABBA01042322;ABBA01042323;ABBA01042324;ABBA01042325;ABBA01042326;ABBA01042327;ABBA01042328;ABBA01042329;ABBA01042330;ABBA01042331;AF030186;AF030195;AF064826;AF088063;AK304207;AK312605;AL034400;AL109623;AMYH01022989;AY052833;AY358507;BC017166;CH471107;NG_012498;NM_001448 AAC31899;AAC69991;AAF22364;AAH17166;AAL11018;AAQ88871;ABM82735;ABM85918;BAG35494;BAG65082;EAX11772;NP_001439;O75487 Hs.58367 1661219;1674051;1691538;1691646;1705374;2107179;2147306;2148266 AF020112;AL023956;AL032551;AL032600;GPC4__7535;SHGC-83545;STS-D45526;WI-16817 K-glypican OTTHUMP00000024052;dJ900E8.1 (glypican 4);glypican proteoglycan 4;glypican-4 APPROVED protein-coding 4452 02160 300168 REVIEWED 1318835 GPC5 glypican 5 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] 13 13 q32 90848930 92317491 + 92050935 93519490 + 1580863;5510027;6480464 20231458 11566272;7657705;19556317;19422935;19174780;19043545;19022413;19010793;18195134;17846126;15489334;15057823;12721791;12477932;11292377;9331333;9070915;19590514;19834535;19865102;20189936;20304703;20360844;20379614;20692050;20688270;20205591;20886065;20944657;20966902;21441931;21339334;20360068;22236185;21988832;20881960;23251661;23297363 2262 P78333 ABBA01027226;ABBA01027227;ABBA01027228;ABBA01027229;ABBA01027230;ABBA01027231;ABBA01027232;ABBA01027233;ABBA01027234;ABBA01027235;AF001462;AK312815;AL138714;AL157363;AL157768;AL157815;AL157821;AL159152;AL162456;AL163537;AL354871;AL356118;AL356737;AL596221;AMYH01005286;AMYH01005287;AMYH01005288;AMYH01005289;AMYH01005290;AMYH01005291;AMYH01005292;AMYH01005293;AMYH01005294;AMYH01005295;AMYH01005296;BC030584;BC039730;CH471085;NG_009370;NM_004466;U66033 AAC12261;AAC51118;AAH39730;ADZ15579;BAG35673;EAX08927;NP_004457;P78333 Hs.655675 1336345;1338329;1646559;1655699;1663813;1666130;1667245;1669188;1673714;1687451;1690944;1701376;1706288;1706500;1708424;1709696;1710814;1710864;1711128;1713341;1714319;1718097;1724675;1743283;1756335;1759231;1761285;1775325;1782830;1782978;1792230;1792232;1792234;1792238;1792240;1792242;1846731;1846911;1850312;1855344;1857748;2111750;2113342;2123086;2124795;2129554;2137001;2140995;2152176;2155713;2159279;2166145;2172584;2175221;2177933;5019805;5019899;5115409;5123364;5128239 A009W27;D10S2412;D13S1300;D13S140;D13S1490;D13S1642;D13S1669;D13S1690;D13S1732;D13S1811;D13S795;D13S899;D13S907;G09432;G29128;G29145;G32919;G54646;GDB:314231;L17986;PMC140024P17;PMC140024P18;PMC140024P19;PMC140024P20;PMC140024P21;PMC140024P23;RH104318;RH119939;RH120664;RH121340;RH122663;RH65549;RH77946;RH80577;RH93789;SGC34864;SHGC-112363;SHGC-12990;SHGC-143319;SHGC-145290;SHGC-151150;SHGC-152222;SHGC-32622;SHGC-37261;SHGC-4700;SHGC-51851;SHGC-52670;SHGC-53712;SHGC-80699;SHGC-81110;SHGC-81144;SHGC-83508;SHGC-84151;SHGC-84210;SHGC-86221;SHGC-86335;STS-T81306;STS-T98842;UniSTS:61556;WI-15916 OTTHUMP00000018551;bA93M14.1;glypican proteoglycan 5;glypican-5 APPROVED protein-coding ENSG00000179399 4453 03902 602446 REVIEWED 1345276 GPDS1 glaucoma-related pigment dispersion syndrome 1 7240710 9076212 7986 1337406;1339616;7183803;7185484 D7S2423;D7S2462;D7S2546;D7S550 4457 1345791 GPD1L glycerol-3-phosphate dehydrogenase 1-like The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010] 3 3 3 p22.3 32085677 32147612 + 32123148 32185205 + 32148003 32210207 + 737633;6480464;6907045;7240710 12477932 18762705;17967977;17967976;7788527;21555452;18029348;16344560;19666841;19745168;20379614;21139048;21685173;19322201;22004471;20301690 23171 C9JFA7;C9JM46;C9K0P5;F8WC16;Q8N335 ABBA01024946;ABBA01024947;AC094019;AI080105;AK074221;AK125404;AK292808;AMYH01013057;BC006168;BC028726;BX283865;CH471055;D42047;DA318838;NG_023375;NM_015141 AAH06168;AAH28726;BAA07648;BAF85497;BAG54194;EAW64421;EAW64422;NP_055956;Q8N335 Hs.82432 1298321;1646774;1655739;1677424;1705250;2111880;2129538;2185164 Bda19d10;D3S2432;D3S3047;D3S3942;D3S4040;RH139;RH25317;SHGC-78115 GPD1-L;KIAA0089 OTTHUMP00000208779;glycerol-3-phosphate dehydrogenase 1-like protein APPROVED protein-coding ENSG00000152642 28956 10008 611777;611778 REVIEWED 1352914 GPC6 glypican 6 The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. [provided by RefSeq, Jan 2009] 13 13 13 q32 74727460 75908516 + 92677096 93853948 + 93879078 95060274 + 1580863;5510027;6480464;7240710 20231458 10329016;19481194;17903302;15489334;15057823;12975309;12477932;10480909;7657705;20889312;20634892;18839057;19726429;19834535;20379614;20692050;21871017;22589738;22747683;22044751;23535033;22993228;23251661 10082 Q9Y625 ABBA01027211;ABBA01027212;ABBA01027213;ABBA01027214;ABBA01027215;ABBA01027216;ABBA01027217;ABBA01027218;ABBA01027219;ABBA01027220;ABBA01027221;ABBA01027222;ABBA01027223;ABBA01027224;AF105267;AF111178;AK074741;AK130013;AK290144;AK304338;AL137144;AL138700;AL139798;AL160036;AL160159;AL161426;AL162455;AL354762;AL354811;AL356598;AL357275;AL450425;AL606810;AMYH01005297;AMYH01005298;AMYH01005299;AMYH01005300;AY358462;BC106947;BQ009005;BQ182216;BX640888;CH471085;NG_011880;NM_005708 AAD31392;AAD55749;AAI06948;AAQ88827;BAF82833;BAG65183;EAX08931;EAX08932;EAX08933;EAX08934;NP_005699;Q9Y625 Hs.444329;Hs.615434 1335225;1336424;1337594;1340086;1651921;1653352;1654094;1670339;1677774;1684258;1688688;1693638;1696094;1703954;1704406;1707508;1711894;1711896;1722681;1725105;1726677;1726871;1728507;1729932;1730453;1738441;1751419;1768295;1773080;1782812;1782814;1782918;1782984;1847905;1850629;1856833;2106481;2111738;2111740;2122639;2122889;2125443;2138380;2150010;2150840;2153959;2158692;2160967;2175419;2177714;2178052;5037552;5094991;7184693;7185403;7186428;7187446 A008V26;ATC-P10376;D12S1283;D13S1093E;D13S1193;D13S1206;D13S125;D13S129;D13S1451;D13S1635;D13S1636;D13S1665;D13S167;D13S184E;D13S197;D13S281;D13S71;D13S762;D13S775;D8S2279;G49558;G49559;G60425;G62575;G62678;G63691;GPC6;GPC6__6647;RH118850;RH44643;RH44781;RH44943;RH45636;RH65457;RH68496;RH98501;RH99121;SHGC-105244;SHGC-106184;SHGC-106880;SHGC-155183;SHGC-58318;SHGC-58551;SHGC-78776;SHGC-79124;SHGC-81838;SHGC-83667;SHGC-84554;STS-AA007180;WI-17041;WI-18121;WI-18223;WI-20311 MGC126288;OMIMD1 OTTHUMP00000018552;glypican proteoglycan 6;glypican-6 APPROVED protein-coding ENSG00000183098 4454 05099 258315;604404 REVIEWED 1606261 GPCPD1 glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 20 20 20 p12.3 5595915 5663197 - 5473080 5539672 - 5525080 5591672 - 6480464 15489334;14702039;12477932;11780052;10718198;20576599;21900206;22343285 56261 H0Y565;Q9NPB8 AB037855;ABBA01053880;ABBA01053881;ABBA01053882;AK001947;AK308111;AL049446;AL109935;AL833069;AMYH01011695;BC027588;BG674365;BI561344;BP421674;CH471133;NM_019593;T79323 AAH27588;BAA91994;BAA92672;EAX10413;EAX10414;EAX10415;EAX10416;NP_062539;Q9NPB8 Hs.636359 1649779;1670982;1699250;1853086;2116363;2136294;2137245;2159454;2182245;2182935;2190953 D20S760;EST159813;MARC_12069-12070:1004549810:1;RH103206;RH64148;RH70786;STS-R10161;STS-R79720;WI-17673;WI-20801;Z94598 FLJ11085;GDE5;GDPD6;KIAA1434;MGC26147;PREI4;RP5-1022P6.2 OTTHUMP00000030200;glycerophosphocholine phosphodiesterase GPCPD1;glycerophosphodiester phosphodiesterase 5;preimplantation protein 4;putative glycerophosphocholine phosphodiesterase GPCPD1;putative glycerophosphodiester phosphodiesterase 5 APPROVED protein-coding ENSG00000125772 26957 10025 614124 VALIDATED 733156 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 12 12 q12-q13 48784068 48791363 + 50497602 50505103 + 1580863;6480464;6907045 16460752;7772607;19425502;16849634;16169070;15489334;14674682;12477932;11822825;10190973;9851831;9247308;2398890;1052094;8944226;19296078;20404019;18029348;22226083;4415475;21988832 2819 F8VSE8;P21695 ABBA01031555;AC025154;AI245302;AK130162;AK295911;AK312516;AMYH01004451;BC017429;BC032234;CA307120;CD244782;CH471111;DC305085;DC310521;L34041;M36917;NG_032168;NM_001257199;NM_005276 AAA35925;AAA92863;AAH32234;ABM84719;ABM92243;BAG35417;BAG58699;EAW58128;EAW58129;NP_001244128;NP_005267;P21695 Hs.524418 1685117;2141236;2168313;2177223;5021462;5037552;5494187 D10Bir3;D11S4592;D8S2279;G24084;M36917;RH41823;RH47067 FLJ26652;GPD-C;GPDH-C;HTGTI GPD-C;GPDH-C;OTTHUMP00000242172;OTTHUMP00000242174;OTTHUMP00000242679;glycerol 3-phosphate dehydrogenase;glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic;glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic;glycerol-3-phosphate dehydrogenase, soluble;glycerophosphate dehydrogenase APPROVED protein-coding ENSG00000167588 4455 00714 138420;614480 REVIEWED 737186 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010] 2 2 q24.1 157000211 157151161 + 157291965 157442915 + 704404;1580863;6480464;6907045;7240710 9070847;19011903;17886033;16344560;16341674;15967408;15456763;14702039;12477932;11243726;9110174;8682323;8619474;8549872;7821823;6790537;6406231;3943520;2065091;167714;20339536;20877624;22939629;21906983 2820 E7EM56;E9PDK4;F5GYK7;F8W6E4;P43304 AB209399;ABBA01004831;ABBA01004832;ABBA01004833;ABBA01004834;ABBA01004835;ABBA01004836;ABBA01004837;AC011308;AC092686;AF311325;AK022596;AK027840;AK093198;AK123563;AK290057;AK291065;AK292817;AK299645;AL699359;AL703918;AMYH01011191;AMYH01011192;BC019874;BM750374;CH471058;DA220999;NG_016606;NM_000408;NM_001083112;U12424;U36310;U40367;U79250 AAA65701;AAB50200;AAB60403;AAC50556;AAG33851;AAH19874;AAY24073;AAY24329;BAD92636;BAF82746;BAF83754;BAF85506;BAG52671;BAH13087;EAX11452;EAX11453;NP_000399;NP_001076581;P43304 Hs.512382 1653472;1683247;1687962;1688502;1739231;2121742;2128224;2133301;2157594;2161570;2163840;2171154;2190587 D2S1796;D2S1924;D2S2702;EST9E7;RH45295;RH47073;RH47734;RH78864;RH91693;RH98478;RH98775;SHGC-62015;WI-9348 GDH2;GPDM;mGPDH GPD-M;GPDH-M;OTTHUMP00000162788;OTTHUMP00000204452;OTTHUMP00000204453;OTTHUMP00000204458;glycerol-3-phosphate dehydrogenase 2;glycerol-3-phosphate dehydrogenase, mitochondrial;mitochondrial glycerophosphate dehydrogenase;mtGPD 2314777;2314985 GLUCO106_H;INSUL32_H APPROVED protein-coding ENSG00000115159 4456 00715 125853;138430 REVIEWED 1346484 GPHA2 glycoprotein hormone alpha 2 GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008] 11 11 11 q13.1 62027912 62029329 - 64458519 64459936 - 64701943 64703360 - 1580863;6480464 12089349;18433898;17363077;16376481;15890769;15489334;12477932;12045258;11809971 170589 E9PLQ0;Q96T91 ABBA01024139;AF260739;AMYH01003715;AP001187;BC093960;BC093962;BC101523;CH471076;CS172789;CS469763;NM_130769 AAH93960;AAH93962;AAI01524;AAK51638;CAJ32901;CAM33585;EAW74326;EAW74327;NP_570125;Q96T91 Hs.436119 1655661;1670249;2127007;2157902;2157904;2187134;5492527;5493007 A002D23;D11S4947;G19958;G33092;RH11559;RH17836;UniSTS:481495;UniSTS:483682 A2;GPA2;MGC126572;ZSIG51 OTTHUMP00000230533;OTTHUMP00000230534;cysteine knot protein;glycoprotein alpha 2;glycoprotein hormone alpha-2;putative secreted protein Zsig51;thyrostimulin subunit alpha APPROVED protein-coding ENSG00000149735 18054 17052 609651 VALIDATED 1342611 GPHB5 glycoprotein hormone beta 5 GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008] 14 14 14 q23.2 43830335 43835256 - 62849395 62854316 - 63779549 63785593 - 6480464 18433898;16210345;15890769;15489334;12508121;12477932;12089349;12045258;19095738;8889548 122876 Q86YW7 ABBA01018322;AF403430;AF467770;AL049871;AMYH01005792;BC069113;BC133702;BM709443;CH471061;CS172792;CS469766;NM_145171 AAH69113;AAI33703;AAM53261;AAO33390;CAJ32902;CAM33586;EAW80825;NP_660154;Q86YW7 Hs.375028 B5;GPB5;ZLUT1 glycoprotein beta 5;glycoprotein hormone beta subunit;glycoprotein hormone beta-5;thyrostimulin subunit beta APPROVED protein-coding 18055 17053 609652 VALIDATED 735664 GPER G protein-coupled estrogen receptor 1 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum. The protein binds estrogen, resulting in intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq, Jul 2008] 7 7 p22.3 1092969 1099977 + 1126443 1133451 + 1580863;4892084;4892064;5128698;6480464 20445128;19274700;19767412 8920907;19432902;19179659;19153601;18794456;18566127;18467441;18467434;18289622;17878253;17655271;17638621;16520733;16344560;16280047;16239258;16210518;16125968;15994455;15771623;15761144;15705806;15539556;15511221;15489334;15245432;15090535;14675202;14632195;12744705;12690205;12477932;12446589;12193550;12027886;11897506;11773440;11043579;9479505;9398636;9367686;9141481;9070864;8889548;22495674;20211987;20596598;20197310;19902352;19911269;18240029;19342448;19549922;19744559;19749156;20086172;20960099;20508064;2834384;20203690;20819778;22520060;21196169;22414008;21266576;22781117;23012390;21278491;21354433;21607586;21170498;21269226;21427217;21791623;21632639;21974818;22495744;22496838;22576740;22425775;22075757;22153880;22138413;22260839;22415229;22270964;23235274;23285008;22792339;23056216;22430216;23314808;23688258;22378861 2852 C9J3W2;Q63ZY2;Q99981 AACC02000050;AB451427;ABBA01039320;AC091729;AF007171;AF015257;AF027956;AK289588;AMYH01016951;AY265807;AY265808;AY265809;BC011634;BC067849;BC082766;BM672716;CH236953;CH471144;CR541655;CR541741;DA014990;DC381205;NM_001039966;NM_001098201;NM_001505;U58828;U63917;U77827;X98510;Y08162 AAB02736;AAB88017;AAC51173;AAC51904;AAC52027;AAH11634;AAH82766;AAP40320;AAP40321;AAP40322;ABM82828;ABM86014;BAF82277;BAG70241;CAA67133;CAA69354;CAG46456;CAG46541;EAL23938;EAW87194;EAW87195;NP_001035055;NP_001091671;NP_001496;Q99527 Hs.20961 1856229;2120030;2135708;2142692;5017686 D7S2090E;D7S2826;GPR30;RH11876;RH70704 CEPR;CMKRL2;DRY12;FEG-1;GPCR-Br;GPR30;LERGU;LERGU2;LyGPR;MGC99678 G protein-coupled receptor 30;G-protein coupled estrogen receptor 1;G-protein coupled receptor 30;IL8-related receptor DRY12;OTTHUMP00000025298;OTTHUMP00000115502;OTTHUMP00000200079;chemoattractant receptor-like 2;chemokine receptor-like 2;constitutively expressed peptide-like receptor;flow-induced endothelial G-protein coupled receptor 1;heptahelix receptor;leucine rich protein in GPR30 3'UTR;lymphocyte-derived G-protein coupled receptor;mER;membrane estrogen receptor APPROVED protein-coding ENSG00000164850 4485 03484 601805 REVIEWED 69477 GPHN gephyrin This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008] 14 14 q23.3 66043878 66718278 + 66974125 67648525 + 69377;1300220;1625104;1558665;1300048;1580863;6480464;7240710 1319186;14976213;16784786;12754701 22778260;18403029;18334916;17293395;16964243;15489334;14751928;14622920;12967995;12684523;12535948;12477932;12097491;11727829;11554796;11418245;11095995;10947798;10900017;10839351;10718198;10607391;10325225;10037506;9473484;7546736;1657993;14760703;19913121;20628086;17347650;19615732;19874574;20379614;20468064;21094642;18315564;20206270;20622020;21071388;9990024;22863883;21829170;21139048;21988832;20360068;21726808;23077067;21404332;22270318;23290196;23408424;20301437 10243 F5H039;F8W7D6;G3V355;G3V4D2;G3V4R0;G3V582;H0YIY4;H0YJ30;H0YJR5;Q9NQX3 AB037806;ABBA01023719;ABBA01023720;ABBA01023721;ABBA01023722;ABBA01023723;ABBA01023724;ABBA01023725;AF272663;AJ272033;AJ272343;AK025169;AK294532;AK295577;AK297447;AK315569;AL049835;AL117667;AL133241;AL135978;AL139295;AL159179;AL355093;AMYH01005810;AMYH01005811;AMYH01005812;BC030016;BQ575870;CH471061;NG_008875;NM_001024218;NM_020806 AAF81785;AAH30016;ABM83389;ABM86601;BAA92623;BAG37944;BAH11801;BAH12110;BAH12583;CAC10537;CAC81240;EAW80923;EAW80924;EAW80925;EAW80926;NP_001019389;NP_065857;Q9NQX3 Hs.208765 1645914;1647578;1658928;1673090;1676310;1679045;1704808;1720255;1728533;1750649;1767835;1768994;1773246;1789262;1847119;2117230;2127548;2148965;2157096;2160688;2176295;2178576;2183604;2189331 D14S298;D14S883;G16723;G35432;G35673;G36288;G63705;G65629;MARC_1069-1070:991929832:1;RH123876;RH27236;RH46412;RH66202;RH70171;RH98697;SHGC-111965;SHGC-30989;SHGC-31433;SHGC-79872;STS-F04665;STS-N34544;WI-16924;WI-22628;WI-22778 GEPH;GPH;GPHRYN;HKPX1;KIAA1385 OTTHUMP00000183479;OTTHUMP00000218024;OTTHUMP00000245383;gephyrin APPROVED protein-coding ENSG00000171723 15465 04893 252150;603930 REVIEWED 6481551 GPM6BP3 glycoprotein M6B pseudogene 3 22 17318403 17318555 + 100873787 ABBA01001462;AC007064;AMYH01012421;NG_032217 pseudo 38783 INFERRED 1343451 GPKOW G patch domain and KOW motifs This gene encodes a protein with G-patch and KOW domains which are involved in RNA binding. The encoded protein may be orthologous to the Arabidopsis protein, modifier of snc 1, 2, which contains the same domains and is required for innate resistance to some pathogens (PMID: 16271871). [provided by RefSeq, Aug 2011] X X X p11.23 52684416 52695473 + 48857289 48867023 - 48969022 48980079 - 737633;6480464 12477932 21880142;22365833;18029348;17081983;16271871;16189514;15489334;8938429;17207965;21832049;22939629;22990118;16491121;20360068;21139048;21890473;21044950 27238 Q92917 AB209806;ABBA01046120;ABBA01046121;ABBA01046122;AC231657;AF196779;AMYH01022292;AMYH01022293;BC000397;BC003148;CH471224;NG_021310;NM_015698;U66359 AAB18640;AAH00397;AAH03148;ADQ32429;BAD93043;EAW50694;NP_056513;Q92917 Hs.503666 1777461;2163802 A003P15;RH18203 GPATC5;GPATCH5;Spp2;T54 G patch domain and KOW motifs-containing protein;OTTHUMP00000023273;protein MOS2 homolog APPROVED protein-coding 30677 06737 VALIDATED 1606107 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 Dietary fats are packaged by intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by lipoprotein lipase (LPL: MIM 609708) along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. GPIHBP1 is a capillary endothelial cell protein that provides a platform for LPL-mediated processing of chylomicrons (Beigneux et al., 2007 [PubMed 17403372]).[supplied by OMIM, Apr 2009] 8 8 q24.3 144366443 144370418 + 144295068 144299044 + 6480464 19304573;18713736;17997385;17883852;17620854;17403372;12477932;22008945;17207965;19542565;20237496;20026666;20966398;21478160;21518912;21314738;21816778;21844202;22078753;22239554 338328 Q8IV16 ABBA01005266;AC138696;AF088057;AMYH01019101;AY245915;BC035810;BC063857;CH471162;NM_178172 AAH35810;AAH63857;AAO86519;ADQ31965;EAW82276;NP_835466;Q8IV16 Hs.426410 1672172 STS-T63781 GPI-HBP1 GPI anchored high density lipoprotein binding protein 1;GPI-anchored HDL-binding protein 1;OTTHUMP00000228001;glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1;high density lipoprotein-binding protein 1 APPROVED protein-coding ENSG00000182851 24945 17347 612757 VALIDATED 1344852 GPI glucose-6-phosphate isomerase This gene belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. The protein encoded by this gene is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. The protein functions in different capacities inside and outside the cell. In the cytoplasm, the gene product is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. [provided by RefSeq, Jul 2008] 19 19 q13.1 39547909 39583076 + 34855645 34893318 + 1625539;1600633;1600631;1600632;1580863;6480464;6907045;7240710 15466941;17041899;8499925;9856489 8575767;7435496;3020690;19064002;18485900;18311788;17925402;17690101;17071500;16949042;16563432;15850830;15637053;15570012;15489334;15369782;15290745;15059907;15034067;14715248;14566819;12783864;12737943;12573240;12527360;12517804;12477932;12054796;11896393;11896391;11688991;11431735;11418246;11264592;11004567;10916680;10727272;10216265;9616041;9446754;8822954;8822952;7989588;7545951;3352745;2544027;2387591;2547084;17875708;18992137;19531650;19787266;19801670;19819066;20237496;8889548;18029348;20845477;20978190;20810510;22939629;21252914;21555518;16196087;20360068;21970785;18781797;20849852;21139048;21890473;21906983;21987572;22360420;16009940;15576338;21319273;22261722;21963094;23000965;23248119;22053931;22505724 2821 K7EIL4;K7ELR7;K7ENR8;K7EP41;K7EQ48;K7ERC6;K7ERK8;P06744 AB209575;ABBA01004335;ABBA01004336;ABBA01004337;ABBA01004338;ABBA01018719;AC010504;AC092073;AK025421;AK129884;AK130102;AK293446;AK294396;AK301103;AMYH01009714;AY324386;BC004982;BC006342;BM664761;BX641158;DC299841;DC342043;K03515;NG_012838;NM_000175;NM_001184722;X16539;X83456;X83457;X83458;X83459;X83460;X83461;X83462;X83463;X83464 AAA36368;AAH04982;AAP72966;ABM83850;ABM87172;BAD92812;BAG56947;BAG57650;BAG62702;NP_000166;NP_001171651;P06744 Hs.466471 1734622;1749587;2146846;2148979;2151956;2220246;5014039;5014051;5015619;5015861;5016478;5020948;5022200;5022322;5022578;5022651;5037552;5109281;7185938 D10S16;D11S2560;D11S2921;D11S3114;D19S630E;D19S984;D1S1423;D1S1425;D22S1584;D8S2278;D8S2279;G35510;GDB:434012;GPI;IB853;L18426;SHGC-111277;STS-K03515 AMF;DKFZp686C13233;GNPI;NLK;PGI;PHI;SA-36;SA36 autocrine motility factor;glucose phosphate isomerase;glucose-6-phosphate isomerase;hexose monophosphate isomerase;hexosephosphate isomerase;neuroleukin;oxoisomerase;phosphoglucose isomerase;phosphohexomutase;phosphohexose isomerase;phosphosaccharomutase;sperm antigen 36;sperm antigen-36 APPROVED protein-coding ENSG00000105220 4458 01394 172400;613470 REVIEWED 7205170 GPN3P1 GPN-loop GTPase 3 pseudogene 1 10 25936006 25937033 - 100302689 ABBA01034428;AC018509;AMYH01002199;NG_012769 pseudo 44914 INFERRED 1606585 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008] 6 6 p22.1 24536384 24597829 - 24426060 24489850 - 6480464;6907045 18940312;18298948;17949898;17467053;16831865;16335952;15814706;15500962;15500911;15489334;14767861;14574404;12536633;12477932;12367767;12090469;11989719;11939719;11939716;11938765;11254757;11072085;10752311;7512501;2017684;1606959;19135435;20858461;20648472;21131602;20137110;15907827;17368745;17720976;17761367;18328347;1833386;2760042;22001757;22260953 2822 Q96ID6 ABBA01066534;ABBA01066535;ABBA01066536;AJ308108;AJ400872;AJ400873;AJ400874;AJ400875;AJ400876;AK308639;AK310692;AL031230;AL359713;AMYH01016151;AY007546;BC007614;BC020748;BC093645;BC112001;BU587813;CH471087;L11701;L11702;NG_029888;NM_001503 AAA36444;AAA36445;AAG16627;AAH07614;AAH20748;AAH93645;AAI12002;AAI56272;AAI57057;CAC14844;CAC87068;EAW55448;EAW55449;EAW55450;EAW55451;NP_001494;P80108 Hs.533291 1648039;1657855;1660999;1671673;2130370;2132447;2154295;2167050 D6S2299;RH37437;RH46669;SGC35287;SHGC-12534;STS-H93959;WI-11671;WI-18199 GPIPLD;GPIPLDM;MGC22590;PIGPLD;PIGPLD1 GPI-PLD;GPI-specific phospholipase D;OTTHUMP00000017721;OTTHUMP00000017722;PI-G PLD;glycoprotein phospholipase D;glycosyl-phosphatidylinositol-specific phospholipase D;glycosylphosphatIdylinositol-specific phospholipase D;glycosylphosphatidylinositol specific phospholipase D1, isoform 2;phosphatidylinositol-glycan-specific phospholipase D;phospholipase D, phosphatidylinositol-glycan-specific APPROVED protein-coding 4459 03946 602515 REVIEWED 736321 GPM6A glycoprotein M6A 4 4 4 q34 173882262 174251819 - 176791082 177160642 - 176554088 176923842 - 1580863;6480464 12493773;19298174;18574501;18163405;15822905;15489334;12477932;12359212;8893821;8807448;8661015;20379614;20400778;21041608;21900206;17500595;16344560;22365631;23284715;23382691 2823 D6R9D2;D6R9T7;D6RAE4;D6RB41;D6RBH3;D6RBM6;D6RD71;D6RD95;D6RDV7;D6REJ8;D6RFY0;D6RFZ3;D6RIF4;P51674 ABBA01070405;ABBA01070406;ABBA01070407;ABBA01070408;ABBA01070409;AC093819;AC097537;AC110794;AI609188;AK226176;AK299788;AMYH01014729;AMYH01014730;AMYH01014731;BC010461;BC022508;BC022528;BC032904;BC037853;BC044612;BC053954;BI544825;BI546539;BI596896;BI670059;CH471056;D49958;DA190376;DA196860;DA507772;DA528125;DA621566;DA915764;DC353381;H16369;NM_001261447;NM_001261448;NM_005277;NM_201591;NM_201592;NR_048571;U45956 AAB16889;AAH22508;AAH22528;AAH37853;AAH44612;ABM83298;ABM86507;BAA08712;BAH13128;EAX04724;EAX04725;NP_001248376;NP_001248377;NP_005268;NP_963885;NP_963886;P51674 Hs.75819 1335511;1337183;1644993;1695736;1700768;1705630;1719917;1724921;1739323;1767900;1767902;2115641;2118779;2119359;2130072;2177081 D4S2765E;D4S3028;D4S3030;D4S450;RH104009;RH119227;RH123651;RH35844;RH48750;SHGC-51395;SHGC-59781;SHGC-67744;SHGC-82659;SHGC-83382;STS-R49342;WI-21773 GPM6;M6A OTTHUMP00000218926;OTTHUMP00000218927;OTTHUMP00000218928;OTTHUMP00000218929;OTTHUMP00000218932;neuronal membrane glycoprotein M6-a protein-coding ENSG00000150625 4460 03174 601275 VALIDATED 7244600 GPR1-AS1 GPR1 antisense RNA 1 101669764 AB774455 GPR1AS miscrna 48602 1349867 GPM6B glycoprotein M6B This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions, such as membrane trafficking and cell-to-cell communication. [provided by RefSeq, Apr 2009] X X p22.2 13698983 13866752 - 13789062 13956831 - 1580863;6480464 8661015;18581270;18029348;17918249;16416265;16381901;15489336;15489334;15214007;14702039;12477932;11749036;11230166;11076863;10397631;9674909;8398137;20029029;21638316;19322201 2824 B7Z248;B7Z613;C9J028;C9J8H8;C9JZE8;H7C5A8;H7C5H4;Q13491 AA991690;AB209525;ABBA01071136;ABBA01071137;ABBA01071138;ABBA01071139;ABBA01071140;ABBA01071141;ABBA01071142;ABBA01071143;ABBA01071144;ABBA01071145;ABBA01071146;ABBA01071147;ABBA01071148;ABBA01071149;ABBA01071150;ABBA01071151;ABBA01071152;AC003035;AC003037;AF037347;AF047197;AK095657;AK127103;AK294314;AK299675;AL119977;AMYH01022096;AMYH01022097;BC008151;BC047295;BF525674;BG532134;BI548345;BI599457;BI669888;CH471074;NG_011988;NM_001001994;NM_001001995;NM_001001996;NM_005278;U45955 AAB16888;AAC19165;AAC19166;AAD13718;AAH08151;AAH47295;ABM82467;ABM85655;ACE86797;ACE87484;BAC04600;BAD92762;BAH11734;BAH13099;CAL37405;CAL37489;CAL37578;CAL37632;CAL37742;CAL37745;CAL37821;CAL37835;CAL37846;CAL37852;CAL37926;CAL38093;CAL38447;CAL38453;CAL38616;CAL38645;CAL38658;CAL38697;EAW98842;EAW98843;EAW98844;EAW98845;EAW98846;EAW98847;EAW98848;EAW98849;EAW98850;NP_001001994;NP_001001995;NP_001001996;NP_005269;Q13491 Hs.495710 1335771;1673378;1674017;1686917;1691192;1702144;1702390;2161605 DXS414;DXS7544;DXS8022;RH11278;RH78876;RH94256;WI-13786;WI-13921 M6B;MGC17150;MGC54284 OTTHUMP00000022945;OTTHUMP00000022946;OTTHUMP00000022947;OTTHUMP00000215023;OTTHUMP00000215024;OTTHUMP00000215025;neuronal membrane glycoprotein M6-b;protolipid M6B APPROVED protein-coding ENSG00000046653 4461 02082 300051 REVIEWED 1606002 GPN3 GPN-loop GTPase 3 12 12 12 q24.11 110517052 110533287 - 109374674 109390447 - 110890291 110906526 - 6480464 11256614;16381901;15489336;12975309;12477932;11230166;11076863;8125298;21145461;17643375;19615732;22990118;16196087;21782856;21139048;21906983;20639865;21768307;22797925 51184 F8W1F4;H0YHZ5;H0YI19;Q96HK9 ABBA01005109;AC002350;AC144548;AF117229;AK223209;AK314946;AM992619;AM992620;AMYH01004743;AY359078;AY364262;BC008416;BC031024;BI546381;BX537973;CH471054;DB455987;NM_001164372;NM_001164373;NM_016301 AAF17210;AAH08416;AAH31024;AAQ76821;AAQ89437;BAD96929;BAG37451;CAD97937;CAL37887;CAL38696;CAQ52399;CAQ52400;EAW97914;NP_001157844;NP_001157845;NP_057385;Q9UHW5 Hs.634680 1774188;1851330;2175078 D5S2669;RH45045;RH66517 ATPBD1C;MGC14560;MGC32810 ATP binding domain 1 family, member C;ATP-binding domain 1 family member C;GPN-loop GTPase 3;OTTHUMP00000241423;OTTHUMP00000241424;protein x 0004 protein-coding ENSG00000111231 30186 17498 VALIDATED 1603309 GPN2 GPN-loop GTPase 2 1 1 1 p36.11 25602968 25613964 - 27078460 27089456 - 27205873 27216869 - 6480464 16710414;15489334;14702039;12975309;12477932;17207965;21832049 54707 Q5JYG3;Q5JYG4;Q9H9Y4 ABBA01034933;AK001211;AK022535;AL034380;AMYH01000414;AY358864;AY364261;BC007815;BC008634;BC020272;BI766621;CH471059;NM_018066 AAH07815;AAH08634;AAQ76820;AAQ89223;ADQ33167;BAA91556;BAB14084;EAX07784;NP_060536;Q9H9Y4 Hs.14333 1768215;2115136;5491643 D1S3022;MARC_4337-4338:996679555:1;SHGC-74477 ATPBD1B;FLJ10349 ATP binding domain 1 family, member B;ATP-binding domain 1 family member B;GPN-loop GTPase 2;OTTHUMP00000004408 protein-coding ENSG00000142751 25513 07665 VALIDATED 1319547 GPN1 GPN-loop GTPase 1 This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 2 2 2 p23.3 27696971 27719184 + 27705407 27727217 + 27851515 27873713 + 1580863;6480464 11058119;17643375;16189514;15489334;12588985;12477932;11124703;21145461;20855544;19615732;21386085;22863883;22990118;16196087;22939629;18029348;21768307;21139048;21890473;21906983;22113938;23000965;23362303;22174317;22796641 11321 B4DQM4;F8WD09;Q9HCN4 AB044661;ABBA01045213;ABBA01045214;AC074091;AJ010842;AK298827;AK298866;AK302131;AK310340;AK311423;AK312992;AK316404;AMYH01010199;BC007451;CH471053;NM_001145047;NM_001145048;NM_001145049;NM_007266;NR_026735 AAH07451;AAX93201;ABM84206;ABM87610;BAB17612;BAG35829;BAG60957;BAG60986;BAG63506;BAH14775;CAA09376;EAX00557;EAX00558;NP_001138519;NP_001138520;NP_001138521;NP_009197;Q9HCN4 Hs.18259 1685315;1847473;2145525;2172690;2180817;2180819 A006H24;D2S1424;G20810;RH16648;RH98653;SGC32173 ATPBD1A;FLJ51176;MBDIN;NTPBP;RPAP4;XAB1 ATP(GTP)-binding protein;GPN-loop GTPase 1;MBD2-interacting protein;OTTHUMP00000123421;OTTHUMP00000200840;OTTHUMP00000219545;OTTHUMP00000219546;RNA polymerase II associated protein 4;XPA binding protein 1, GTPase;XPA-binding protein 1;xpa binding protein 1 APPROVED protein-coding ENSG00000198522 17030 10308 611479 REVIEWED 1343922 GPR111 G protein-coupled receptor 111 6 6 6 p12.3 49180394 49221792 + 47732285 47766296 + 47624326 47665533 + 1580863;6480464 15203201;14574404;12679517;12565841;12435584;12044878 222611 D6R9E2;Q8IZF7 AB065684;AB083617;ABBA01050605;ABBA01050606;AK126683;AL356421;AMYH01016332;AY140953;AY255612;CH471081;DQ315369;NM_153839 AAI56187;AAI57026;AAN46667;AAO85124;ABC41928;BAB89330;BAC05907;EAX04320;NP_722581;Q8IZF7 Hs.724860 1334581;1722891;1727821;1797594 D6S1566;G60540;G63176;GPR111_2029 PGR20;hGPCR35 G protein-coupled receptor PGR20;OTTHUMP00000217380;OTTHUMP00000217381;probable G-protein coupled receptor 111 protein-coding ENSG00000164393 18991 17055 VALIDATED 1346347 GPR112 G protein-coupled receptor 112 This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010] X X X q26.3 135745772 135861718 + 135210788 135326713 + 135383122 135499047 + 1580863 15203201;12679517;12435584;18953328 139378 Q8IZF6 ABBA01055887;ABBA01055888;ABBA01055889;ABBA01055890;ABBA01055891;ABBA01055892;ABBA01055893;ABBA01055894;ABBA01055895;ABBA01055896;ABBA01055897;ABBA01055898;ABBA01055899;ABBA01055900;ABBA01055901;ABBA01055902;ABBA01055903;ABBA01055904;AL078638;AL136167;AL161778;AMYH01023049;AY140954;AY255581;AY882585;CH471150;CR936801;NG_021219;NM_153834 AAI56127;AAN46668;AAO85093;AAW78659;EAW88471;EAW88472;NP_722576;Q8IZF6 Hs.381354 1691574;1702520;1702920;1769668;2146725 AL032563;DXS6721;DXS691;G18208;sWXD572 DKFZp781E1948;PGR17;RP1-299I16 OTTHUMP00000183578;OTTHUMP00000183579;probable G-protein coupled receptor 112 APPROVED protein-coding ENSG00000156920 18992 06578 REVIEWED 736300 GPNMB glycoprotein (transmembrane) nmb The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 p15 23252841 23281254 + 23286316 23314729 + 1580863;6480464 7814155;19453261;19350579;18983539;17951401;17845721;17081065;16609006;16341674;16247014;15763343;15684612;15489334;15231748;14696968;12975309;12853948;12690205;12643545;22290289;12638126;12609765;12477932;12176896;9847074;20375921;20711474;19320736;19834535;20056711;20379614;20215530;22558309;21252093;21389974;22014058;21844952;21874302;22891158 10457 F5GY20;F6SKP1;Q14956;Q96F58 AACC02000007;ABBA01056701;AC005082;AF322909;AI952217;AJ505015;AK292078;AK296779;AK297031;AK297051;AK297055;AK297803;AK303071;AK304671;AK312279;AMYH01017112;AY359124;BC011595;BC025297;BC032783;BM750843;BT007074;BU537639;CD105306;CH236948;CH471073;NM_001005340;NM_002510;X76534 AAG42839;AAH11595;AAH32783;AAP22336;AAP22337;AAP35737;AAQ89481;ABM83010;ABM86203;BAF84767;BAG35208;BAG59357;BAG59559;BAG59577;BAG59580;BAG60141;BAG64187;BAG65446;CAA54044;CAD43718;EAL24259;EAW93781;EAW93782;EAW93783;EAW93784;NP_001005340;NP_002501;Q14956 Hs.190495 1655352;1669605;1712094;1855721;5015861;5037552;7185938 D10S16;D8S2279;G54096;RH47597;RH67817;SHGC-35439 HGFIN;NMB OTTHUMP00000122417;OTTHUMP00000202127;glycoprotein NMB;glycoprotein nmb-like protein;osteoactivin;transmembrane glycoprotein HGFIN;transmembrane glycoprotein NMB APPROVED protein-coding ENSG00000136235 4462 05081 604368 REVIEWED 732710 GPR1 G protein-coupled receptor 1 2 2 2 q33.3 200797465 200840208 - 206748285 206791016 - 207040040 207082771 - 1580863;6480464 7851889;18029348;16938805;16344560;16303743;15919664;15815621;15489334;12837283;12477932;10233994;10916084;17558413;19343178;20334567;22688191;15342556;22842622 2825 C9J456;C9JCK1;C9JFR8;C9JKF3;C9JQB7;C9JSU0;P46091 ABBA01062652;AC007383;AK075130;AK290976;AK312917;AL550780;AMYH01011437;BC058005;BC067833;BP279126;BX094581;BX389743;CA446989;CB269800;CH471063;DA545892;DA692381;DA733626;DA988428;EF577403;NM_001098199;NM_001261452;NM_001261453;NM_001261454;NM_001261455;NM_005279;U13666 AAA64592;AAH67833;AAY15063;ABQ52423;BAF83665;BAG52070;EAW70383;NP_001091669;NP_001248381;NP_001248382;NP_001248383;NP_001248384;NP_005270;P46091 Hs.184907 1649567;1754647;1797616;1847016;2113918;2143718;5015619;5016743 D11S3114;D2S2787;GPR1;GPR1_2200;RH65625;RH70567;SHGC-133003;STS-U13666 G-protein coupled receptor 1;OTTHUMP00000163809;OTTHUMP00000206357;OTTHUMP00000206358;OTTHUMP00000206359;OTTHUMP00000206360;OTTHUMP00000206361;OTTHUMP00000206362;OTTHUMP00000206363;probable G-protein coupled receptor 1 protein-coding ENSG00000183671 4463 02585 600239 VALIDATED 1344702 GPR108 G protein-coupled receptor 108 19 19 19 p13.3 6672183 6679888 - 6680925 6688633 - 6729925 6737633 - 1580863;6480464 17454009;12477932;16169070;19423540;20406964;20438785;21906983 56927 G5E9L6;M0QYF6;M0QZ03;M0QZW9;M0QZY1;M0R1G1;M0R1Q3;M0R2E1;M0R3H4;Q9NPR9 ABBA01051474;AC008760;AI740753;AK291968;AL365404;AL522595;AMYH01009377;AX775899;BC007862;BC146909;BC150657;BX400757;CA425869;CB961886;CH471139;EB387948;NM_001080452 AAH07862;AAI46910;AAI50658;BAF84657;CAB96950;CAE11649;EAW69066;EAW69067;EAW69068;NP_001073921;Q9NPR9 Hs.167641 1660471;2191347;5491463 MARC_13947-13948:1007584180:3;MARC_17747-17748:1031760580:1;WI-14196 LUSTR2;MGC14393 OTTHUMP00000242983;lung seven transmembrane receptor 2;protein GPR108 protein-coding ENSG00000125734 17829 VALIDATED 1344763 GPR101 G protein-coupled receptor 101 The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011] X X X q26.3 136476405 136477931 - 135939973 135941499 - 136112307 136113833 - 1580863;6480464 19377476;21438024;18029348;15489334;12477932;12044878;11574155 83550 Q96P66 AB065937;AB083588;ABBA01065778;AF411115;AL390879;AMYH01023051;BC069439;CH471150;NG_016367;NM_054021 AAH69439;AAL26486;BAB89301;BAC06152;EAW88450;NP_473362;Q96P66 Hs.350569 1797588;5492605 GPR101_2082;UniSTS:481773 GPCR6 OTTHUMP00000024140;probable G-protein coupled receptor 101 APPROVED protein-coding ENSG00000165370 14963 02315 300393 VALIDATED 6482620 GPR116P1 G protein-coupled receptor 116 pseudogene 1 9 q13 66516671 66518017 - 389740 AL512625;AMYH01021067;NG_021620 pseudo 32922 INFERRED 6482616 GPR116P2 G protein-coupled receptor 116 pseudogene 2 9 p11.2 44174322 44175727 - 441416 ABBA01033775;AMYH01020309;BX664718;NG_021616 pseudo 32921 INFERRED 1314180 GPR107 G protein-coupled receptor 107 9 9 9 q34.11 103467074 103553498 + 131855857 131942264 + 132815985 132902448 + 6480464 17454009;15164053;14702039;12477932;10997877;8125298;22933024;21906983 57720 G5E994;Q5VW38 AB046844;ABBA01043963;ABBA01043964;ABBA01043965;ABBA01043966;AF308603;AF376725;AJ420422;AJ420428;AK000825;AK021506;AK024651;AK025836;AK026244;AK074380;AK131317;AK225456;AK293092;AL136141;AL360004;AL392105;AL834359;AMYH01021765;BC007544;BC030147;BC039728;BC110518;BC143655;BM920552;BU618007;CH471090;NM_001136557;NM_001136558;NM_020960 AAI10519;AAI43656;AAK57695;AAQ14541;BAB13450;BAB15408;BAF85781;CAI46205;EAW87920;EAW87921;EAW87922;EAW87923;EAW87924;EAW87925;NP_001130029;NP_001130030;NP_066011;Q5VW38 Hs.512461 1649708;1655853;1663770;1722033;1724319;1768451;1770041;1779116;1797590;2155823;2155951;2172937;2172939;2184307;5015961;5016478 A001W37;D15S1477;D9S1013E;D9S1148;D9S1924;G19725;G59903;GDB:434012;GPR107_2364;RH119081;RH46291;SHGC-53916;Tel-9q55;Tel-9q56;Tel-9q63;WIAF-2221 DKFZp667C222;FLJ16312;FLJ20998;FLJ22591;GCDRP;KIAA1624;LUSTR1;MGC126118;MGC15440;RP11-88G17;bA138E2.2 OTTHUMP00000022357;OTTHUMP00000022359;lung seven transmembrane receptor 1;protein GPR107 protein-coding ENSG00000148358 17830 17054 VALIDATED 1315496 GPR115 G protein-coupled receptor 115 6 6 6 p12.3 49222549 49246023 + 47774248 47797716 + 47666289 47689757 + 1580863;6480464 15203201;16344560;14702039;14574404;12679517;12435584;8889548;21822266;22505724 221393 Q8IZF3 AB065474;ABBA01050605;AK095395;AL356421;AMYH01016332;AY255556;BU683873;CH471081;DA445316;DB313938;DQ315370;NM_153838 AAI56188;AAI56925;AAO85068;ABC41929;BAC45257;BAG53042;EAX04321;EAX04322;NP_722580;Q8IZF3 Hs.150131 1686909;1779494;2122573 RH93990;SHGC-153471;SHGC-57797 FLJ38076;PGR18 G-protein coupled receptor 115;G-protein coupled receptor PGR18;OTTHUMP00000016563;OTTHUMP00000016564;probable G-protein coupled receptor 115;seven transmembrane helix receptor protein-coding ENSG00000153294 19011 17057 614268 VALIDATED 1321097 GPR110 G protein-coupled receptor 110 6 6 6 p12.3 48520157 48562426 - 47075772 47118041 - 46967813 47010082 - 1302390;6480464 14623098 15203201;14702039;14574404;12679517;12477932;12435584;12044878;8889548;8125298;20149256;18029348 266977 A0PJH0;H7C4N3;H7C570;Q9H615 AB045123;AB065679;AB083618;ABBA01050611;AK026337;AK055208;AK095348;AK225460;AL355518;AL698860;AMYH01016330;AY140952;AY255595;BC029358;BC104214;BC104215;BC113634;BC113636;BC144253;BU675866;CD685935;CH471081;CR627234;NM_025048;NM_153840 AAH29358;AAI04215;AAI13635;AAI13637;AAI60016;AAN46666;AAO85107;BAB15452;BAB70874;BAB89331;BAC45260;BAD83599;EAX04311;EAX04312;EAX04313;NP_079324;NP_722582;Q5T601 Hs.733762 5014029;5015879;5016781;5020635;5022651 D11S2921;D13S1639;D7S3207;GDB:314949;SHGC-67307 FLJ22684;FLJ30646;KPG_012;MGC125952;PGR19;hGPCR36 G protein-coupled receptor PGR19;G-protein coupled receptor 110;G-protein coupled receptor KPG_012;G-protein coupled receptor PGR19;OTTHUMP00000016558;OTTHUMP00000016560;probable G-protein coupled receptor 110;seven transmembrane helix receptor protein-coding ENSG00000153292 18990 08661 VALIDATED 1314157 GPR113 G protein-coupled receptor 113 2 2 2 p23.3 26371279 26413239 - 26384545 26423189 - 26531041 26569685 - 1580863 15203201;14702039;12975309;12679517;12477932;12435584;12044878;15717329;23144319 165082 C9JSE8;F5H1E4;F8WE87;Q8TDT3 AA459569;AB065959;AB083619;ABBA01045182;AC010896;AK122995;AK293887;AMYH01010191;AY140955;AY255611;AY358172;AY358214;BC043211;CH471053;NM_001145168;NM_001145169;NM_153835;T92048 AAI48417;AAI52989;AAN46669;AAO85123;AAQ88539;AAQ88581;AAY14645;BAB89332;BAC45265;BAG53841;BAG57276;EAX00694;EAX00695;EAX00696;EAX00697;EAX00698;EAX00699;NP_001138640;NP_001138641;NP_722577;Q8IZF5 Hs.631878 1338889;1676115;1682407;1751077 D2S2223;RH93722;RH98632;SHGC-104954 FLJ16767;PGR23;hGPCR37 G protein-coupled receptor PGR23;G-protein coupled receptor 113;G-protein coupled receptor PGR23;OTTHUMP00000196644;OTTHUMP00000196647;OTTHUMP00000196815;OTTHUMP00000196817;probable G-protein coupled receptor 113;seven transmembrane helix receptor protein-coding ENSG00000173567 18989 11009 VALIDATED 1317902 GPR123 G protein-coupled receptor 123 10 10 10 q26 128573501 128619379 - 134751399 134795169 + 134901409 134945179 + 1580863;6480464 12565841;17212699;15203201;18682798;16344560;15164054;14702039;12679517;11347906;16385451;18029348 84435 Q86SQ6 AB058731;ABBA01006203;ABBA01006204;AK090982;AK094675;AK098741;AK124728;AL445199;AMYH01003224;AMYH01003225;AY181241;AY255564;BC044247;BG818167;CB045391;CH471211;DA398101;EF536972;NM_001083909 AAI46321;AAO27353;AAO85076;ABQ08572;BAB47457;EAW61312;EAW61313;NP_001077378;Q86SQ6 Hs.435183 1816350;1937746;1937748;1937750;1937752 ECD09217;REN39710;REN39711;REN39712;REN39713 FLJ25875;FLJ37356 OTTHUMP00000196657;probable G-protein coupled receptor 123 protein-coding ENSG00000197177 13838 17058 612302 VALIDATED 1313657 GPR114 G protein-coupled receptor 114 16 16 16 q21 42077411 42112411 + 56134102 56168602 + 57576601 57611101 + 1580863;6480464 15203201;15489334;14702039;12975309;12679517;12477932;12435584;20600896 221188 Q8IZF4 ABBA01025275;AC004382;AC027349;AK128298;AK160368;AK172765;AK292783;AK301357;AK303661;AMYH01007704;AY140956;AY255609;AY358447;BC032401;CH471092;NM_153837 AAH32401;AAN46670;AAO85121;AAQ88812;ABM85701;BAD18711;BAD18748;BAF85472;BAG54657;BAG62902;BAG64660;EAW82936;EAW82937;EAW82938;NP_722579;Q8IZF4 Hs.187884 1706322;2191731 MARC_5775-5776:997299272:5;SHGC-80726 PGR27 G protein-coupled receptor PGR27;G-protein coupled receptor 114;G-protein coupled receptor PGR27;OTTHUMP00000164665;OTTHUMP00000164666;probable G-protein coupled receptor 114 protein-coding ENSG00000159618 19010 17056 PROVISIONAL 736973 GPR119 G protein-coupled receptor 119 This gene encodes a member of the rhodopsin subfamily of G-protein-coupled receptors that is expressed in the pancreas and gastrointestinal tract. The encoded protein is activated by lipid amides including lysophosphatidylcholine and oleoylethanolamide and may be involved in glucose homeostasis. This protein is a potential drug target in the treatment of type 2 diabetes.[provided by RefSeq, Jan 2010] X X q26.1 129346095 129347102 - 129518319 129519511 - 1302390;1580863;6480464 14623098 16517404;15772651;15489334;12477932;12044878;17900700;18037923;18202141;18698756;19562648;19660440;19780700;19817784;19901198;19920139;21906983;23069642 139760 Q8TDV5 AB065936;AB083584;ABBA01047925;AL035423;AMYH01022973;AY288416;BC095502;BC101166;BC101167;BC101168;BC126179;BC126181;CS538152;NG_016404;NM_178471 AAH95502;AAI01167;AAI01168;AAI01169;AAI26180;AAI26182;AAP72125;ADR82941;BAB89297;BAC06151;CAM84963;NP_848566;Q8TDV5 Hs.496762 2109359;5492839;5493711 GPR119_2585;UniSTS:482989;UniSTS:490481 GPCR2;MGC119957;hGPCR2 G-protein coupled receptor 119;G-protein coupled receptor 2;OTTHUMP00000024018;glucose-dependent insulinotropic receptor APPROVED protein-coding ENSG00000147262 19060 06579 300513 REVIEWED 1347693 GPR116 G protein-coupled receptor 116 6 6 6 p12.3 48372598 48475024 - 46928201 47030634 - 46820242 46922675 - 1580863;6480464 11076863;15203201;18519826;18314133;18308334;16381901;16344560;16335952;16303743;15489336;15489334;14702039;12679517;12477932;12435584;11230166;10048485;9872452;19913121;20628086;20379614 221395 E9PBS6;F5GWK9;Q8IZF2 AB018301;AB031421;ABBA01050612;ABBA01050613;ABBA01050614;AI796309;AK075121;AK092043;AK289503;AK296948;AK300380;AL050295;AL096772;AL832125;AMYH01016329;AY140958;AY255552;AY498875;BC036002;BC050087;BC066121;CH471081;DA588699;DB230925;NM_001098518;NM_015234 AAH50087;AAH66121;AAN46672;AAO85064;AAS21061;ACE86978;ACE87667;BAA34478;BAD83582;BAF82192;BAG59494;BAG62115;CAB43394;CAL38391;EAX04307;EAX04308;EAX04309;NP_001091988;NP_056049;Q8IZF2 Hs.362806 1338267;1644327;1671570;1673602;1673604;1727125;1744319;1857905;2163988;7184461 D6S1540;D6S452;G62966;GDB:451673;RH46675;RH64938;RH68648;SGC34982;SHGC-34952 DKFZp564O1923;FLJ90640;KIAA0758;KPG_001 Ig-Hepta homolog;OTTHUMP00000016557;probable G-protein coupled receptor 116 protein-coding ENSG00000069122 19030 11010 VALIDATED 1312494 GPR124 G protein-coupled receptor 124 8 8 8 p11.23 36605963 36653084 + 37773932 37820650 + 37654401 37701504 + 1580863;6480464 15203201;16982628;15021905;14702039;12565841;12477932;12168954;11559528;10819331;16344560;19448619;19853600;21875946;22013897 25960 H7C1L1;Q6YN44;Q96PE1 AB040964;ABBA01023567;ABBA01023568;ABBA01023569;AC138356;AF378755;AI346793;AK027296;AK074099;AL110244;AL137610;AL832524;AL832959;AMYH01018651;AY090637;AY181242;BC146774;CH471080;DA569569;NM_032777 AAI46775;AAL11992;AAM09084;AAO27354;BAA96055;BAB55022;BAB84925;CAB53694;CAD38629;CAH56283;EAW63354;EAW63355;EAW63356;EAW63357;EAW63358;EAW63359;NP_116166;Q96PE1 Hs.274136 1339700;1644448;1797596;2127573;2182492;5127935 AFMb057wg5;D8S1722;GPR124_2026;RH18231;SGC33756;SHGC-152364 DKFZp434C211;DKFZp434J0911;FLJ14390;KIAA1531;TEM5 G-protein coupled receptor 124;OTTHUMP00000209338;OTTHUMP00000209339;probable G-protein coupled receptor 124;tumor endothelial marker 5 protein-coding ENSG00000020181 17849 08437 606823 VALIDATED 68465 GPR12 G protein-coupled receptor 12 13 13 13 q12 8398298 8403882 - 26230960 26231964 - 27329337 27334922 - 632854;632853;1580863;6480464 8262253;8530049 15489334;15057823;14702039;12649592;12477932;8889548;21832049;22430950 2835 A8K2F5;P47775 ABBA01007918;AK055229;AK290220;AK294378;AK307756;AK311107;AK312602;AL159978;AMYH01004984;AW015633;BC067448;BC067449;BC067450;BC067451;BC067452;BC112144;BC112146;BM727022;CH471075;HQ995525;NM_005288;U18548 AAA91630;AAH67448;AAH67449;AAH67450;AAH67451;AAH67452;AAI12145;AAI12147;ADZ31970;BAF82909;BAG35492;BAG57636;EAX08390;NP_005279;P47775 Hs.123034 1644209;1705586;1797598;2131334;5015861;5492385;5493235;7185938 D10S16;GPR12_2233;RH70578;SHGC-83901;UniSTS:480896;UniSTS:485414;WI-22121 FLJ18149;FLJ97704;GPCR12;GPCR21;MGC138349;MGC138351 OTTHUMP00000018159 protein-coding ENSG00000132975 4466 15978 600752 VALIDATED 1312627 GPR125 G protein-coupled receptor 125 This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012] 4 4 4 p15.2 22839590 22967882 - 21998097 22126770 - 22388997 22517677 - 1580863;6480464 15203201;17457313;17081983;15489334;15021905;14702039;12975309;12565841;12477932;20677014;21875946 166647 D6RDX4;D6RER4;Q8IWK6 ABBA01032664;ABBA01032665;AC093735;AC093814;AI198439;AK027494;AK095866;AK299168;AL832257;AMYH01014056;AY181243;AY358306;AY360366;BC026009;BC035645;BX416923;BX648287;CH471069;NG_032963;NM_145290 AAH35645;AAO27355;AAQ88673;AAR11374;BAG53149;BAG61215;EAW92801;NP_660333;Q8IWK6 Hs.99195 1646128;1650488;1660855;1683723;1688885;1695082;1717347;1744685;1755167;1857237;2121227;2175399;2177260;5015861;5022578;5037552;7185938 D10S16;D1S1423;D4S2473E;D4S2746;D4S3292;D4S723;D8S2279;G16807;G33924;G34074;GDB:549233;RH122164;RH64184;RH92906;SHGC-142088;WI-19797 PGR21;TEM5L OTTHUMP00000219285;OTTHUMP00000219295;TEM5-like;probable G-protein coupled receptor 125 protein-coding ENSG00000152990 13839 11011 612303 REVIEWED 1318390 GPR126 G protein-coupled receptor 126 This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009] 6 6 q24.1 142664759 142809078 + 142623056 142767403 + 6480464 15203201;19266077;18391951;18391950;17109822;16335952;16303743;15225624;15189448;15084671;14702039;12565841;12477932;12119602;11410839;8076819;22837378;20546612;20677014;19343178;20010835;20379614;20397748;18304421;21929287;20881960;21963094;23284291;23400010;23666238 57211 F5H054;F5H2L1;H0YFM8;H0YGP2;Q8IXA4 AB183546;AB183547;AB183548;AB183549;ABBA01025757;AF216967;AK027843;AK075087;AK092519;AK122617;AK299785;AK307543;AL033377;AL080079;AL360007;AMYH01016717;AMYH01016718;AMYH01016719;AY181244;AY426673;BC036008;BC075798;BX640873;BX640971;BX648315;CH471051;NG_011839;NM_001032394;NM_001032395;NM_020455;NM_198569 AAH75798;AAO13250;AAO27356;AAR88427;BAB55406;BAC11393;BAD27571;BAD27572;BAD27573;BAD27574;BAG61666;CAE45930;CAE45986;EAW47875;EAW47876;EAW47877;EAW47878;EAW47879;EAW47880;EAW47881;NP_001027566;NP_001027567;NP_065188;NP_940971;Q86SQ4 Hs.743302 1338844;1339786;1655093;1657605;1673114;1690490;1713309;1713657;1750347;1852283;2150846;2179281;2179703;5093500;5110968 A009P45;AFM269zg5;D6S1007;D6S2436;G32755;RH120646;RH120711;RH15839;RH47174;RH80673;SHGC-112526;SHGC-36626;STS-H60843;STS-N30578;WI-14110 APG1;DREG;PS1TP2;VIGR G-protein coupled receptor 126;HBV PreS1-transactivated protein 2;OTTHUMP00000017320;OTTHUMP00000237093;OTTHUMP00000237094;OTTHUMP00000237115;developmentally regulated G-protein-coupled receptor;vascular inducible G protein-coupled receptor;vascular-inducible G protein-coupled receptor APPROVED protein-coding ENSG00000112414 13841 17059 612243 REVIEWED 1603253 GPR137C G protein-coupled receptor 137C 14 14 14 q22.1 32887453 32972040 + 52089616 52174181 + 53019866 53104431 + 6480464 16341674;12679517 283554 B3KW22;H0YFL6;H0YJZ7;Q6AWC7;Q8N3F9 ABBA01018165;AK123953;AK293812;AL133453;AL157971;AL834372;AMYH01005731;AW470753;AY255590;BM842962;BX647179;CH471078;NM_001099652 AAI60121;AAO85102;BAG53984;BAG57218;CAD39035;CAH10564;EAW65648;NP_001093122;Q8N3F9 Hs.416214 2136675;2159330;2177011 D14S942;G35851;RH65505 DKFZp762F0713;TM7SF1L2 G protein-coupled receptor TM7SF1L2;OTTHUMP00000245097;OTTHUMP00000245098;integral membrane protein GPR137C;transmembrane 7 superfamily member 1-like 2 protein protein-coding ENSG00000180998 25445 PROVISIONAL 1316279 GPR128 G protein-coupled receptor 128 3 3 3 q12.2 98719715 98805922 + 101811135 101896955 + 100328433 100414323 + 1580863;6480464 15203201;17081983;15342556;14702039;12565841;12477932;19797732 84873 E9PHI0;Q6ZMH4;Q96K78 ABBA01061787;ABBA01061788;AC069223;AK027360;AK122804;AK131069;AK172769;AK172774;AK295345;AMYH01013358;AY181246;BC113451;BC130388;BP270648;CH471052;NM_032787 AAI13452;AAI30389;AAO27358;ADR83395;BAB55061;BAD18752;BAD18756;BAH12039;EAW79818;NP_116176;Q96K78 Hs.334511 FLJ14454;FLJ16382;FLJ29035;MGC142011;MGC163260 OTTHUMP00000214043;probable G-protein coupled receptor 128 protein-coding ENSG00000144820 19241 17060 612307 VALIDATED 1321937 GPR132 G protein-coupled receptor 132 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein was reported to be a receptor for lysophosphatidylcholine action, but PubMedID: 15653487 retracts this finding and instead suggests this protein to be an effector of lysophosphatidylcholine action. This protein may have proton-sensing activity and may be a receptor for oxidized free fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 q32.3 104586782 104602799 - 105515737 105531754 - 1580863;6480464 18174230;18089568;18034171;17475884;16236715;15665078;15489334;15280385;12805023;12586833;12482833;12477932;12086852;9770487;19855098;19948975;16754659;16344560;20799926;22621271 29933 A8K7X7;B4E144;F8VRH8;Q9UNW8 AA714520;AB465599;AB465600;ABBA01008852;ABBA01008853;ABBA01008854;AF083955;AK292142;AK303654;AL512356;AMYH01006073;AX775841;AX775935;AX775939;BC004555;BC084546;BT007257;CH471061;CQ859766;DB137292;EU432121;EU543705;NM_001278694;NM_001278695;NM_001278696;NM_013345;W15172 AAD47380;AAH84546;AAP35921;ABY87920;ACC61682;BAF84831;BAG64656;BAG84609;BAG84610;CAE11620;CAE11667;CAE11669;CAH25933;EAW81898;NP_001265623;NP_001265624;NP_001265625;NP_037477;Q9UNW8 Hs.532504 1797600;1856518;2146828 G36117;G36142;GPR132_1771 G2A;MGC99642 G protein-coupled receptor G2A;G2 accumulation protein;OTTHUMP00000178739;OTTHUMP00000243878;OTTHUMP00000243881;probable G-protein coupled receptor 132 APPROVED protein-coding ENSG00000183484 17482 06936 606167 REVIEWED 736248 GPR135 G protein-coupled receptor 135 14 14 14 q23.1 39979309 39981128 - 58999993 59001812 - 59930240 59932059 - 1302390;1580863;6480464 14623098 15489334;12679517;12477932;16169070;20198315;22632162 64582 Q8IZ08 AB065563;ABBA01018270;AL159140;AMYH01005765;AY255588;AY288418;BC032831;BX094623;CH471061;M76676;NM_022571 AAB97766;AAH32831;AAO85100;AAP72127;ABM84287;ABM87679;BAC05800;EAW80751;NP_072093;Q8IZ08 Hs.647573 1701128;2173895 D14S1226;RH104192 HUMNPIIY20 OTTHUMP00000179032;probable G-protein coupled receptor 135 protein-coding 19991 16263 607970 VALIDATED 1323337 GPR139 G protein-coupled receptor 139 16 16 16 p12.3 19191989 19234374 - 19950544 19992601 - 20043043 20085100 - 6480464 15845401;15777626;12679517;12044878;11863363;12477932 124274 J3KPI8;Q6DWJ6 AB196529;ABBA01028273;ABBA01028274;ABBA01028275;ABBA01028276;AC021089;AJ303165;AK291384;AMYH01007326;AMYH01007327;AY255545;AY635179;BC137237;BC137238;CH471186;NM_001002911 AAI37238;AAI37239;AAO85057;AAT65818;BAD97440;BAF84073;CAC33085;EAW50306;NP_001002911;Q6DWJ6 Hs.446875 1669616;2110433;2124949 B354YF9;D16S780;GPR139__7538 GPRg1;PGR3 G protein-coupled receptor PGR3;G-protein-coupled receptor PGR3;g(q)-coupled orphan receptor GPRg1;probable G-protein coupled receptor 139 protein-coding 19995 17062 VALIDATED 1345193 GPR143P G protein-coupled receptor 143 pseudogene Y Y Y p11.2 2242148 2248255 + 7028339 7034646 - 6968439 6974546 - 12815422 352896 ABBA01034843;AC012068;NG_002814 5021792;5116188;5116214;5116216 sY2802;sY2803;sY2820;sY2822 OA1P pseudo 18499 INFERRED 1316484 GPR137B G protein-coupled receptor 137B 1 1 1 q42-q43 209555229 209621629 + 234372497 234438829 + 236305832 236372209 + 1580863;6480464 9521871;15489334;12477932;12446740;8125298;21107309 7107 H0Y509;O60478;Q5TAE7;Q5TAF0 ABBA01033154;ABBA01033155;AF027826;AI634648;AK223632;AK295408;AK301552;AK312908;AL122018;AL139162;AMYH01001854;AMYH01001855;AMYH01001856;AY242135;BC012100;CH471098;CR541770;NM_003272 AAC39669;AAH12100;AAO92302;BAD97352;BAG35754;BAG58359;BAG63048;CAG46569;EAW70043;EAW70044;NP_003263;O60478 Hs.498160 1645888;1664942;1687900;1712192;2129258;2140060;2218834 G54147;RH76461;SHGC-63657;SHGC-64303;SHGC-76532;SHGC-76568;TM7SF1__5272 TM7SF1 OTTHUMP00000036106;OTTHUMP00000036107;integral membrane protein GPR137B;transmembrane 7 superfamily member 1 (upregulated in kidney);transmembrane 7 superfamily member 1 protein protein-coding ENSG00000077585 11862 06878 604658 VALIDATED 1344919 GPR133 G protein-coupled receptor 133 The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010] 12 12 12 q24.33 131051949 131239316 + 130004790 130189786 + 131438452 131626010 + 6480464 15203201;18464913;16344560;15489334;14702039;12679517;12477932;19729412;20031603;20834067;20379614;22025619 283383 B2CKK9;B7ZLF7;F5H2H2;F5H4Y0;F5H5S7;F5H6F0;F5H7I3;H0Y2U9;Q6QNK2;Q9NSM3 ABBA01019827;ABBA01019828;ABBA01019829;ABBA01019830;ABBA01019831;AC073862;AC078925;AC126564;AK131538;AL162032;AMYH01004883;AY255587;AY278561;AY532280;BC047951;BC112307;BC112309;BC143775;BX649116;DA520615;EU523118;NM_198827 AAI12308;AAI12310;AAI43776;AAO85099;AAP35063;AAS37682;ACB20802;BAD18674;CAB82385;NP_942122;Q6QNK2 Hs.719239 1654141;1664022;1665631;1666263;1696306;1708648;1712933;1726941;1746275;1746535;1746537;1764309;1766121 D12S1322;G17668;G62715;G64704;G64705;G64706;RH120556;SGC34088;SHGC-147923;SHGC-149503;SHGC-56817;SHGC-77729;SHGC-85128 DKFZp434B1272;FLJ16770;MGC138512;MGC138514;PGR25 G-protein coupled receptor PGR25;OTTHUMP00000238595;OTTHUMP00000238598;OTTHUMP00000238602;probable G-protein coupled receptor 133 APPROVED protein-coding ENSG00000111452 19893 17061 613639 VALIDATED 1604608 GPR137 G protein-coupled receptor 137 11 11 11 cen-q22.3 61378710 61383871 + 63809907 63813539 + 64051811 64056972 + 6480464 15489334;14702039;12477932;10873569;22837380;8889548 56834 F5GXD9;F5GXI8;F5GXW8;F5H097;F5H0Q1;F5H1T3;F5H1V9;F5H234;F5H4R8;F5H6Y8;F5H7S0;H0YGJ1;Q96N19;Q9NQC5 ABBA01003296;AJ250392;AK056094;AK300209;AK302256;AMYH01003704;AP001453;BC020396;BC029297;BC033920;BC035002;BI830247;BU730608;BU730610;BX119209;CH471076;NM_001170726;NM_001170880;NM_001170881;NM_001177358;NM_020155 AAH33920;AAH35002;BAB71093;BAG61979;BAH13657;CAB96540;EAW74237;EAW74238;EAW74239;EAW74240;NP_001164197;NP_001164351;NP_001164352;NP_001170829;NP_064540;Q96N19 Hs.523763 1660493;1689931;1777407;1793554;2180477 PMC230316P4;RH47513;RH78541;RH98400;WI-17324 C11orf4;GPR137A;TM7SF1L1 OTTHUMP00000236937;OTTHUMP00000236938;OTTHUMP00000236939;OTTHUMP00000236942;integral membrane protein GPR137;transmembrane 7 superfamily member 1-like 1 protein protein-coding ENSG00000173264 24300 12600 VALIDATED 1350453 GPR144 G protein-coupled receptor 144 9 9 9 q33.3 97860643 97886596 + 126226359 126279200 + 127213423 127239379 + 20379614;15203201;15164053;14702039;12679517;18845549 347088 Q7Z7M1 AB065601;ABBA01043748;ABBA01043749;AK022431;AL137846;AMYH01021707;AY255620;AY278562;CH471090;EF107715;EF107716;EF107717;EF107718;NM_001161808 AAO85132;AAP35064;ABK96967;ABK96968;ABK96969;ABK96970;BAC05829;EAW87586;EAW87587;EAW87588;EAW87589;EAW87590;NP_001155280;Q7Z7M1 Hs.454099 1335180;2157335;5020946;5022578;5022651;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279;D9S778;L17971;SHGC-8113 PGR24 G protein-coupled receptor PGR24;G-protein coupled receptor GPR144;G-protein coupled receptor PGR24;OTTHUMP00000163069;probable G-protein coupled receptor 144 protein-coding ENSG00000180264 18651 17063 PROVISIONAL 736698 GPR141 G protein-coupled receptor 141 GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] 7 7 7 p14.1 37764438 37765355 + 37746521 37747438 + 37779996 37780913 + 1302390;6480464 14623098 15489334;12690205;12679517;12477932;23251661 353345 C9JDP7;Q7Z602 AACC02000036;ABBA01056918;AC083865;AMYH01017188;AY255538;AY288420;BC120951;BC120952;CH236951;CH471073;NM_181791 AAI20952;AAI20953;AAO85050;AAP72129;EAL23980;EAW94082;NP_861456;Q7Z602 Hs.688230 PGR13 G-protein coupled receptor PGR13;OTTHUMP00000128301;OTTHUMP00000207130;probable G-protein coupled receptor 141 APPROVED protein-coding ENSG00000187037 19997 16423 609045 PROVISIONAL 1346454 GPR149 G protein-coupled receptor 149 3 3 3 q25.2 152476120 152567869 - 155538155 155630198 - 154055461 154147504 - 1580863;6480464 12679517;20379614 344758 Q2MKA6;Q86SP6 ABBA01058870;AC092946;AMYH01013590;AY255534;CH471052;DQ318360;NM_001038705 AAI56850;AAO85046;ABC49857;EAW78760;NP_001033794;Q86SP6 Hs.688231 1341516;1722799;2109361 D3S3710;G60341;GPR149_3138 IEDA;PGR10 G protein-coupled receptor PGR10;G-protein coupled receptor PGR10;OTTHUMP00000214132;probable G-protein coupled receptor 149 protein-coding ENSG00000174948 23627 PROVISIONAL 1350857 GPR151 G protein-coupled receptor 151 5 5 5 q32 141975876 141977135 - 145874610 145875869 - 145894417 145895676 - 1580863;6480464 15111018;12679517;12044878 134391 Q8TDV0 AB065674;AB083592;ABBA01026338;AC011375;AMYH01015686;AY255557;AY351676;CH471062;NM_194251 AAI40431;AAI56568;AAO85069;AAQ62567;BAB89305;BAC05899;EAW61839;NP_919227;Q8TDV0 Hs.483732 1797606;2149217 GPR151_2583;RH66752 GALR4;GALRL;GPCR;PGR7 G-protein coupled receptor PGR7;GPCR-2037;OTTHUMP00000223942;galanin receptor 4;galanin receptor-like;probable G-protein coupled receptor 151;putative G-protein coupled receptor protein-coding 23624 17065 PROVISIONAL 1352818 GPR142 G protein-coupled receptor 142 GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 68956409 68961516 + 69875240 69880334 + 72363645 72368739 + 1302390;1580863;6480464 14623098 22889411;15845401;12679517;12477932;18029348 350383 J3QLF2;J3QSD0;Q7Z601 AB065914;AB196530;ABBA01028840;AC055863;AC103809;AMYH01008623;AY255622;AY288421;BC143807;CH471099;NM_181790 AAI52735;AAI52988;AAO85134;AAP72130;BAC06129;BAD97441;EAW89157;EAW89158;NP_861455;Q7Z601 Hs.574368 1753955;1797602 GPR142_2580;SHGC-89363 PGR2 G-protein coupled receptor PGR2;probable G-protein coupled receptor 142 APPROVED protein-coding ENSG00000257008 20088 16424 609046 PROVISIONAL 1353035 GPR143 G protein-coupled receptor 143 This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009] X X p22.3 9653454 9693917 - 9693453 9734005 - 1580863;6480464;7240710 10471510;7647783;19390656;19123159;18978956;18828673;18798082;18523664;17960122;17822861;17516023;17081065;16754205;16646960;12868035;12643545;12538723;12477932;11793467;11214907;11115845;10094567;9887374;9529334;8634705;8230160;2573275;16524428;16621890;20649618;19604113;19610097;19717472;20301517;21348135;22916221;21423867;20861488;21541274;21730137;21931697;22486324 4935 C9J9N1;H7BZN6;P51810 ABBA01070748;ABBA01070749;ABBA01070750;AC003036;AC090481;AMYH01022068;AMYH01022069;BC015657;BC068977;BU188283;CH471074;NG_009074;NM_000273;Z48804 AAH68977;CAA88742;EAW98773;NP_000264;P51810 Hs.74124 1298097;1744973;1771168;1792266;2112838;2217376;5117608 D1S1665;DXS9850;GDB:591575;GDB:591618;GPR143_2945;PMC140306P1;SGC31598 NYS6;OA1 G-protein coupled receptor 143;OTTHUMP00000022884;OTTHUMP00000022885;ocular albinism type 1 protein APPROVED protein-coding ENSG00000101850 20145 02355 300500;300808;300814 REVIEWED 1343055 GPR150 G protein-coupled receptor 150 5 5 5 q15 90834411 90835715 + 94981736 94983040 + 94955980 94957284 + 1580863;6480464 15777626;12679517;12477932 285601 G4XH61;Q8NGU9 AB065678;ABBA01069249;AC008547;AMYH01015490;BC030197;CH471084;JF810884;NM_199243 AAH30197;AAI56089;AEP43751;BAC05903;EAW96041;NP_954713;Q8NGU9 Hs.143315 5493469 UniSTS:486627 PGR11 OTTHUMP00000149983;probable G-protein coupled receptor 150;seven transmembrane helix receptor protein-coding 23628 11012 PROVISIONAL 1347773 GPR148 G protein-coupled receptor 148 2 2 2 q21.1 125085792 125087058 - 131203193 131204379 + 131486643 131487909 + 15777626;15688318;15489334;12679517;12477932;12044878;22543972 344561 Q8TDV2 AB083589;ABBA01019372;AC140481;AMYH01011081;AY255532;AY280965;AY569570;BC105013;BC105041;CH471250;NM_207364 AAI05014;AAI05042;AAO85044;AAP34196;AAS76892;BAB89302;EAW51274;NP_997247;Q8TDV2 Hs.452574 1725327;2217378;5493255 GPR148_3158;RH118981;UniSTS:485466 BTR;PGR6 G protein-coupled receptor PGR6;G-protein coupled receptor PGR6;OTTHUMP00000162427;brain and testis restricted GPCR;probable G-protein coupled receptor 148 protein-coding ENSG00000173302 23623 13598 VALIDATED 1345247 GPR146 G protein-coupled receptor 146 7 7 7 p22.3 1064897 1066653 + 1063667 1065423 + 1097141 1098897 + 1580863;6480464 15777626;15489334;12690205;12679517;12477932 115330 A4D2Q3;C9J5X5;C9JAQ6;Q96CH1 AACC02000130;ABBA01039318;AC073957;AK300166;AK313171;AMYH01016948;AY255535;BC014241;CH236965;CH471144;NM_138445 AAH14241;AAO85047;ABM83585;ABM86825;BAG35988;BAG61948;EAL23710;EAW87191;NP_612454;Q96CH1 Hs.585007;Hs.718624 1797604;2166947 GPR146_2063;SHGC-34866 PGR8 G protein-coupled receptor PGR8;G-protein coupled receptor PGR8;OTTHUMP00000115491;OTTHUMP00000200092;OTTHUMP00000200093;probable G-protein coupled receptor 146 protein-coding ENSG00000164849 21718 17064 PROVISIONAL 1315368 GPR15 G protein-coupled receptor 15 This gene encodes a G protein-coupled receptor that acts as a chemokine receptor for human immunodeficiency virus type 1 and 2. The encoded protein localizes to the cell membrane. [provided by RefSeq, Nov 2012] 3 3 q11.2-q13.1 99733568 99734650 + 98250878 98251960 + 1580863;6480464 8838812;15650194;15489334;12566994;12555203;12477932;11696454;10985245;9236192;9230441;15992849;21189250;17207965;23661644;23430259;22086059 2838 B2R8H6;B6V9G9;P49685 ABBA01026929;AC021660;AK313375;AMYH01013351;BC069437;BC101779;BC101781;CH471052;FJ348263;JA738781;NM_005290;U34806 AAC50826;AAH69437;AAI01780;AAI01782;ACI96307;ADQ31969;BAG36173;CCF77043;EAW79855;NP_005281;P49685 Hs.563128 1659551;1791342;1795938;2113752;5492447;5493289 GPR15;GPR15_962;PMC104479P1;RH70610;UniSTS:481106;UniSTS:485610 BOB;MGC126828;MGC126830 BOB;G-protein coupled receptor 15;OTTHUMP00000217372;brother of Bonzo protein-coding ENSG00000154165 4469 03102 601166 REVIEWED 1354216 GPR152 G protein-coupled receptor 152 11 11 11 q13.2 64551972 64553400 - 66975348 66976776 - 67218772 67220200 - 1580863;6480464 15777626;15489334;12679517;12477932;12044878 390212 Q8TDT2 AB065853;AB083620;ABBA01024032;AMYH01003747;AP003419;AY255600;AY569571;BC119779;BC122869;NG_021211;NM_206997 AAI19780;AAI22870;AAO85112;AAS76893;BAB89333;BAC06071;NP_996880;Q8TDT2 Hs.567997 MGC148162;PGR5 G protein-coupled receptor PGR5;OTTHUMP00000237644;probable G-protein coupled receptor 152 protein-coding ENSG00000175514 23622 13599 VALIDATED 6767363 GPR158-AS1 GPR158 antisense RNA 1 10 p12.1 25447001 25465205 - 14702039 100128811 ABBA01034431;AK094758;AL139821;AMYH01002196;NR_027333 Hs.700407 1782102 SHGC-154756 APPROVED miscrna ENSG00000233642 44163 PREDICTED 1319513 GPR153 G protein-coupled receptor 153 1 1 1 p36.31 5421910 5435545 - 6231443 6243622 - 6307406 6321035 - 6480464 16710414;15777626;15489334;12679517;12477932;21822266;22797925 387509 Q6NV75 ABBA01035441;ABBA01035442;AL031847;AMYH01000211;AY255529;BC068275;BQ575651;CH471130;CR627473;NM_207370 AAH68275;AAO85041;CAH10674;EAW71526;NP_997253;Q6NV75 Hs.531581 1649831 SHGC-74146 DKFZp762B2210;PGR1 G-protein coupled receptor PGR1;OTTHUMP00000001391;probable G-protein coupled receptor 153 protein-coding ENSG00000158292 23618 13600 614269 VALIDATED 1314117 GPR158 G protein-coupled receptor 158 10 10 10 p12.1 25165702 25598388 + 25504296 25931164 + 25464290 25891158 + 6480464 22542470;18649358;16229975;15164054;14702039;12168954;10574461;18655026;16385451;20379614;23382691 57512 Q5T848 AB032962;ABBA01034428;ABBA01034429;ABBA01034430;ABBA01034431;AK095120;AL139821;AL161654;AL354976;AL355587;AMYH01002196;AMYH01002197;AMYH01002198;AMYH01002199;AY528411;NM_020752 AAI56399;AAI57125;AAS18315;BAA86450;NP_065803;Q5T848 Hs.499108 1337089;1653923;1712971;1716167;1779744;1780198;1782102;2154863;2155445;2217380;7186929 A004G15;D10S572;G17491;GPR158_3664;RH120575;RH121106;SHGC-13722;SHGC-153722;SHGC-154563;SHGC-154756 FLJ37801;KIAA1136;RP11-59G22.1 OTTHUMP00000019333;probable G-protein coupled receptor 158 protein-coding ENSG00000151025 23689 13601 614573 VALIDATED 1603814 GPR165P G protein-coupled receptor 165 pseudogene X X X q12 66008191 66008902 + 65577304 65578015 + 65657809 65661621 + 15777626 392486 ABBA01067124;AL592049;AMYH01022510;AX229902;NG_005303 PGR15 pseudo 21462 VALIDATED 1606358 GPR166P G protein-coupled receptor 166 pseudogene 6 6 6 p21.2 38259930 38260703 + 36812760 36813461 + 36704887 36705660 + 12044878 442206 Q8TDV1 AB083591;ABBA01038267;AMYH01016275;NG_025935;Z85996 BAB89304 GPCR;PGR9 pseudo 23626 INFERRED 1319348 GPR155 G protein-coupled receptor 155 2 2 2 q31.1 168909805 168965228 - 175004621 175060057 - 175296299 175351816 - 1580863;6480464 16381901;15815621;15489336;15489334;14702039;12679517;12477932;11230166;11076863;20379614;21139048 151556 Q49AJ5;Q8N261 ABBA01062188;ABBA01062189;ABBA01062190;ABBA01062191;ABBA01062192;AC010894;AC018470;AK056381;AK091200;AK096665;AK307896;AK315125;AL834154;AMYH01011282;AY255528;BC028730;BC035037;BC036681;BI548910;BX537947;CH471058;DC334438;NM_001033045;NM_001267050;NM_001267051;NM_152529 AAH28730;AAH35037;AAH36681;AAO85040;AAY14707;AAY24218;ABM82655;ABM85832;BAB71170;BAC03609;BAC04835;BAG37579;CAD97915;CAH10683;CAL38088;EAX11137;EAX11138;EAX11139;NP_001028217;NP_001253979;NP_001253980;NP_689742;Q7Z3F1 Hs.516604;Hs.741466 1698488;1797608;5015404;5015619;5015861;5015959;5016478;5020881;5021872;5022425;5022463;5022651;5037552;7185938 D10S16;D10S2448;D11S2921;D11S3114;D22S296;D3S1673;D8S2279;GDB:434012;GPR155_2293;L17705;L17709;RH102794;sY3084 DEP.7;DEPDC3;FLJ31819;FLJ39346;PGR22 G-protein coupled receptor PGR22;OTTHUMP00000163174;OTTHUMP00000163175;OTTHUMP00000163176;integral membrane protein GPR155 protein-coding ENSG00000163328 22951 17066 VALIDATED 1353149 GPR171 G protein-coupled receptor 171 3 3 3 q25.1 149328392 149333761 - 152398309 152403678 - 150915619 150920988 - 737633;1580863;6480464 12477932 9370294;11524702;7566098;17192395 29909 C9JR91;O14626 AA353758;ABBA01058913;AC078816;AF002986;AF411849;AMYH01013580;BC036815;CH471052;HI574190;NG_021244;NM_013308 AAC51846;AAH36815;AAL47763;ABM81867;ABM85027;CBX47584;EAW78811;EAW78812;NP_037440;O14626 Hs.549152 H963 F730001G15Rik;G-protein coupled receptor H963;OTTHUMP00000216781;OTTHUMP00000216782;platelet activating receptor homolog;probable G-protein coupled receptor 171 protein-coding ENSG00000174946 30057 17071 VALIDATED 736790 GPR156 G protein-coupled receptor 156 G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008] 3 3 3 q13.33 118294084 118372514 - 121368569 121445635 - 119884328 119963142 - 1299444;1580863;6480464 12591167 15489334;12679517;12477932;20677014;15203218 165829 F8WAW3;Q8NFN8 AB209362;ABBA01061568;AC092897;AF488739;AI201720;AMYH01013421;AY255565;BC113701;BC143606;BX115336;CD638213;CH471052;NM_001168271;NM_153002 AAI13702;AAI43607;AAN03795;AAO85077;ADR83404;BAD92599;EAW79530;NP_001161743;NP_694547;Q8NFN8 Hs.333358 1797610;2125848 D3S2364;GPR156_2124 GABABL;MGC142261;PGR28 G protein-coupled receptor PGR28;G-protein coupled receptor PGR28;OTTHUMP00000215176;OTTHUMP00000215177;ZK180.1-like;probable G-protein coupled receptor 156 APPROVED protein-coding ENSG00000175697 20844 17067 610464 VALIDATED 1322370 GPR157 G protein-coupled receptor 157 1 1 1 p36.23 8273844 8298831 - 9087063 9111816 - 9164476 9189229 - 6480464 16710414;15489334;14702039;12477932;10574461 80045 E7ENU8;K7ERQ3;Q5UAW9 ABBA01035536;ABBA01035537;AK022194;AK026883;AK292888;AK304154;AL158048;AMYH01000234;AMYH01000235;AMYH01000236;AY768808;NM_024980 AAI56510;AAI72507;AAV35060;ABM83730;ABM87050;BAB13982;BAF85577;BAG65043;NP_079256;Q5UAW9 Hs.632367 1698548;2129792;5015861;7185938 D10S16;RH102826;SHGC-74180 FLJ12132 OTTHUMP00000082681;probable G-protein coupled receptor 157 protein-coding 23687 17068 VALIDATED 1345785 GPR160 G protein-coupled receptor 160 3 3 3 q26.2-q27 168155041 168202500 + 171239397 171285878 + 169755735 169803184 + 1580863;6480464 15489334;12477932;12044878;11466977;19851296;20198315 26996 C9J0J1;C9JBW1;C9JTZ7;C9JUZ9;Q9UJ42 AB083583;ABBA01058696;AC008040;AI560646;AJ249248;AK311293;AMYH01013642;BC000181;BX366931;BX400356;BX414005;CH471052;NM_014373 AAH00181;BAB89296;CAB55314;EAW78524;EAW78525;EAW78526;NP_055188;Q9UJ42 Hs.231320 1689454;1707300;2159332;2183686;5123549 D3S3468;RH91965;SHGC-36404;SHGC-77526;SHGC-79254 GPCR1;GPCR150 G-protein coupled receptor GPCR1;OTTHUMP00000213455;OTTHUMP00000213456;OTTHUMP00000213457;OTTHUMP00000213458;OTTHUMP00000213459;OTTHUMP00000213460;hGPCR1;probable G-protein coupled receptor 160;putative G protein-coupled receptor protein-coding ENSG00000173890 23693 17069 VALIDATED 1603661 GPR162 G protein-coupled receptor 162 This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 12 p13 8548244 8553865 + 6801224 6806844 + 6930963 6936583 + 6480464 15777626;15489334;12477932;9074930;8723724;19773279 27239 J3KPJ9;Q16538 AB209836;ABBA01017660;AK296359;AK315938;AK316512;AMYH01004208;BC002353;BC007918;BC080585;CH471116;NM_014449;NM_019858;U47924;U47925;U47928;U47929 AAB51310;AAB51311;AAC50463;AAC50466;AAH02353;AAH07918;AAH80585;ADZ15880;BAD93073;BAH12329;BAH14309;BAH14883;EAW88735;EAW88736;EAW88737;NP_055264;NP_062832;Q16538 Hs.631654 1736304;1795520;1848051;2125773;2144935;2176194;2219102;5491679 A007D38;CD4_1639;D12S1245E;GRCA__6662;MARC_7617-7618:996688022:1;RH78647;STS-U47924;WI-21968 A-2;FLJ78837;GRCA OTTHUMP00000238650;OTTHUMP00000238652;OTTHUMP00000238653;gene rich cluster, A;gene-rich cluster gene A protein;probable G-protein coupled receptor 162 APPROVED protein-coding ENSG00000250510 16693 13608 REVIEWED 1601901 GPR179 G protein-coupled receptor 179 This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012] 17 17 17 q21.1 33141333 33159916 - 33735019 33753219 - 36481493 36499693 - 16625196;16229975;22325361;22325362;21906983;23535730 440435 Q6PRD1 ABBA01031930;AC115992;AC183084;AMYH01008362;AY584611;NG_032655;NM_001004334 AAI72753;AAS91740;NP_001004334;Q6PRD1 Hs.462915 1858333 STS-F09642 CSNB1E;GPR158L;GPR158L1 GPR158-like;GPR158-like 1;OTTHUMP00000163081;probable G-protein coupled receptor 158-like 1;probable G-protein coupled receptor 179 APPROVED protein-coding ENSG00000188888 31371 13602 614515;614565 REVIEWED 1607069 GPR161 G protein-coupled receptor 161 Upon ligand binding, G protein-coupled receptors, such as GPR161, activate cytoplasmic G proteins (see GNAS, MIM 139320), allowing the receptors to transduce extracellular signals across the plasma membrane into the cell. Phosphorylation of the receptor attenuates signaling (Matteson et al., 2008 [PubMed 18250320]).[supplied by OMIM, Aug 2008] 1 1 1 q24.2 141162980 141214616 - 166320621 166372248 - 168048780 168106905 - 6480464 19064610;18250320;16710414;15489334;14702039;12477932;11987825;11959142;9932290;19536175 23432 Q5TGK0 AA662800;ABBA01047235;AF091890;AK026059;AK056040;AK091271;AK095302;AK122656;AK298797;AK298850;AK299634;AK310019;AL033532;AMYH01001484;AMYH01001485;AY275468;BC028163;CH471067;NM_001267609;NM_001267610;NM_001267611;NM_001267612;NM_001267613;NM_001267614;NM_153832 AAC61598;AAH28163;AAP32300;ABM84295;ABM87688;BAC03624;BAG51611;BAG53646;BAH12873;BAH12884;BAH13082;EAW90818;EAW90819;NP_001254538;NP_001254539;NP_001254540;NP_001254541;NP_001254542;NP_001254543;NP_722561;Q8N6U8 Hs.271809 1334882;1690053;1696498;1797612;1850730;5015619;5109281;5123931 A004N15;D11S3114;D1S1425;D1S2799;GPR161_2270;RH98556;SHGC-83134;WI-13488 FLJ33952;RE2 G-protein coupled receptor 161;G-protein coupled receptor RE2;OTTHUMP00000032586;OTTHUMP00000032587;OTTHUMP00000032588 APPROVED protein-coding 23694 17070 612250 VALIDATED 1347471 GPR17 G protein-coupled receptor 17 2 2 2 q21 121714385 121721160 + 128120217 128126683 + 128403439 128410213 + 1580863;6480464 8558062;18533035;16990797;16344560;15489334;12477932;9523551;9092554;19625605;2834384;16754659;20148890;21261596;21531793 2840 C9JWY5;G4XH68;Q13304 ABBA01040200;AC010976;AC074114;AK126849;AK292725;AK313949;AMYH01011019;BC013202;BC031653;BC039595;BX538082;CH471103;DA154324;DA314295;DA366480;DA390892;JF810891;NM_001161415;NM_001161416;NM_001161417;NM_005291;U33447;Y12546;Z94154;Z94155 AAB16746;AAH31653;ABM83379;ABM86591;AEP43758;BAF85414;BAG36667;BAG54380;CAA73144;CAB08107;CAB08108;CAD98006;EAW95337;NP_001154887;NP_001154888;NP_001154889;NP_005282;Q13304 Hs.46453;Hs.736277 1665515;1709056;2119539;2150421;2181774 A008U17;RH70603;RH78384;SHGC-85672;WI-13493 DKFZp686M18273 G-protein coupled receptor 17;OTTHUMP00000162268;OTTHUMP00000203864;P2Y-like receptor;R12;UDP/CysLT receptor;uracil nucleotide/cysteinyl leukotriene receptor protein-coding ENSG00000144230 4471 04351 603071 VALIDATED 1347737 GPR173 G protein-coupled receptor 173 This gene encodes a member of the G-protein coupled receptor 1 family. This protein contains 7 transmembrane domains and conserved cysteine residues. [provided by RefSeq, Nov 2009] X X X p11 56934390 56936128 + 53095231 53123968 + 53078506 53109797 + 70648;1580863;6480464 10833454 18029348;15489334;12477932;8889548;19377476 54328 J3KPD1;Q9NS66 AB040801;ABBA01056357;ABBA01056358;ABBA01056359;ABBA01056360;ABBA01056361;ABBA01056362;ABBA01056363;ABBA01056364;ABBA01056365;ABBA01056366;ABBA01056367;ABBA01056368;ABBA01056369;AMYH01022418;AMYH01022419;BC009861;BI602566;BM670611;BX322635;CA445634;CH471154;CS382016;FB764508;NG_015966;NM_018969 AAH09861;ABM84202;ABM87606;BAA96647;CAL39132;CAV30662;EAW93142;NP_061842;Q9NS66 Hs.193011 1337786;1680581;1702884;1739689;1796726;2109363;2125506 DXS1008E;DXS7563;DXS8062;GPR173_9777;RH99258;SE20-4_1202;STS-N33443 SREB3 OTTHUMP00000023334;g-protein coupled receptor 173;probable G-protein coupled receptor 173;super conserved receptor expressed in brain 3 APPROVED protein-coding ENSG00000184194 18186 02220 300253 REVIEWED 1345699 GPR174 G protein-coupled receptor 174 This gene encodes a protein belonging to the G protein-coupled receptor superfamily. These proteins are characterized by the presence of seven alpha-helical transmembrane domains, and they activate or interact with various endogenous or exogenous ligands, including neurotransmitters, hormones, and odorant and taste substances. This family member is classified as an orphan receptor because the cognate ligand has not been identified. [provided by RefSeq, Sep 2011] X X X q21.1 78666761 78668018 + 78313125 78314382 + 78426469 78427726 + 1580863 15772651;15489334;12477932;12044878;20880198;23178570 84636 Q9BXC1 AB083599;ABBA01030181;AF345567;AL590222;AMYH01022638;AY242133;BC104922;BC104924;CH471104;JA738677;NG_016565;NM_032553 AAI04923;AAI04925;AAK29070;AAO92300;BAB89312;CCF76991;EAW98593;NP_115942;Q9BXC1 Hs.326713 1336496;2109309;5492967 DXS8082;FKSG79__6728;UniSTS:483457 FKSG79;GPCR17 OTTHUMP00000023600;probable G-protein coupled receptor 174 APPROVED protein-coding ENSG00000147138 30245 06512 300903 VALIDATED 737562 GPR176 G protein-coupled receptor 176 Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008] 15 15 15 q14-q15.1 16856199 16976371 - 37880223 38000385 - 40092931 40213093 - 6480464 20379614;7893747;15489334;12477932;20677014;21139048;16712791 11245 B4DZ23;H9NIL9;J3KNC6;Q14439 ABBA01038468;ABBA01038469;ABBA01038470;ABBA01038471;AC012377;AC023908;AK302715;AMYH01006556;AMYH01006557;BC067106;CB106487;CH471125;D38449;JQ308174;NM_001271854;NM_001271855;NM_007223 AAH67106;AFF59484;BAA07481;BAG63935;EAW92385;EAW92386;NP_001258783;NP_001258784;NP_009154;Q14439 Hs.37196 1340891;1665875;1705760;1713509;2124162;2170695 A008K26;D15S146;RH120239;RH17437;SHGC-31667;SHGC-83477 GPR;Gm1012;HB-954 HB-954;OTTHUMP00000160314;probable G-protein coupled receptor 176;putative G protein coupled receptor APPROVED protein-coding ENSG00000166073 32370 13597 612183 VALIDATED 1344300 GPR18 G protein-coupled receptor 18 13 13 13 q32 80750537 80754253 - 98704968 98708683 - 99906967 99910682 - 1580863;6480464 9205118;16844083;15489334;15057823;12477932;11991713;18577758;20880198;21261596;23128233 2841 H9NIM1;Q14330;Q5JUH9 AA825595;ABBA01027126;AF261135;AF339781;AL160155;AMYH01005326;BC008569;BC050646;BC066927;BI770379;BT009907;CH471085;JQ308176;L42324;NM_001098200;NM_005292 AAB65819;AAG44671;AAH08569;AAH50646;AAH66927;AAP88909;AFF59486;EAX09017;NP_001091670;NP_005283;Q14330 Hs.741589 1675575;1797614 GPR18_2306;RH98849 G-protein coupled receptor 18;N-arachidonyl glycine receptor;NAGly receptor;OTTHUMP00000018613;OTTHUMP00000018614 protein-coding ENSG00000125245 4472 03621 602042 VALIDATED 736455 GPR182 G protein-coupled receptor 182 Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008] 12 12 q13.3 55674622 55676736 + 57388355 57390469 + 704371;1580863;1625768;6480464 11676473;12622928 11883938;9367907;17939601;15489334;14720432;12646214;12477932;12419522;11956648;11754983;11728267;11712085;10449538;9535752;9389548;9016306;7621913;19847298 11318 O15218;Q6LAJ3 ABBA01008445;ABBA01008446;ABBA01008447;AC026120;AMYH01004510;AY268434;BC034761;CH471054;NM_007264;Y13583;Y15287 AAH34761;AAP23201;ABM81779;ABM87805;CAA73910;CAC79687;EAW96970;NP_009195;O15218 Hs.483909 1676894;1848581;1857397;2174519;2182088 A004P28;D12S1906;RH79858;WI-16799;WI-22389 7TMR;ADMR;AM-R;AMR;G10D;MGC34399;gamrh;hrhAMR G-protein coupled receptor 182;OTTHUMP00000244865;adrenomedullin receptor APPROVED protein-coding ENSG00000166856 13708 05605 605307 REVIEWED 1346200 GPR183 G protein-coupled receptor 183 This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008] 13 13 13 q32.3 80790353 80803314 - 98744790 98757695 - 99946789 99959749 - 1580863;6480464 8383238;18628402;16540462;15489334;12477932;8125298;16169070;21261596;22875855;21139048;23473835;22913878;22930711;23128233 1880 P32249 ABBA01027126;AI740732;AK223390;AK292091;AK313443;AL160155;AMYH01005326;AW402166;AW574697;AW575283;BC020752;CH471085;JA738717;L08177;NM_004951 AAA35924;AAH20752;ABM82294;ABM85474;BAD97110;BAF84780;BAG36232;CCF77011;EAX09018;EAX09019;NP_004942;P32249 Hs.784 1650186;1795724;2152221;2181640 EBI2_25;G15934;L08177;WI-18855 EBI2 EBV-induced G-protein coupled receptor 2;Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor);G-protein coupled receptor 183;OTTHUMP00000018611;epstein-Barr virus-induced G-protein coupled receptor 2 APPROVED protein-coding ENSG00000169508 3128 12040 605741 REVIEWED 1604518 GPR180 G protein-coupled receptor 180 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008] 13 13 13 q32.1 76102074 76129910 + 94052105 94079947 + 95254104 95286899 + 6480464 15489334;15057823;14702039;12730718;12538434;12477932;11991713;16344560;19322201 160897 Q6ZT96;Q86V85 ABBA01027208;AF339784;AI016274;AK024059;AK126794;AK289850;AL049452;AL359708;AL832739;AL832853;AMYH01005301;BC033906;BC052243;BG112926;BI856811;BX348762;CA435391;CD110068;CH471085;DB150630;NM_180989 AAH52243;BAC86697;BAF82539;CAI46124;EAX08942;EAX08943;EAX08944;NP_851320;Q86V85 Hs.439363 1643854;1649411;1738381;2173572;2219836 A008J34;D13S655E;ITR__6484;WI-14300;WI-18634 DKFZp586C1322;DKFZp667K0825;ITR OTTHUMP00000018556;integral membrane protein GPR180;intimal thickness related receptor;intimal thickness-related receptor APPROVED protein-coding ENSG00000152749 28899 16258 607787 REVIEWED 733557 GPR27 G protein-coupled receptor 27 GPR27 is a member of the G protein-coupled receptors (GPCRs), a large family of receptors that have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli such as neurotransmitters, hormones, or light induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins.[supplied by OMIM, May 2010] 3 3 3 p21-p14 71733794 71734921 + 71885891 71887018 + 71803201 71804328 + 70648;1580863;6480464 10833454 2850 F1DAM3;Q9NS67 AB040799;AC096970;AMYH01013276;CH471055;CS382012;FB764504;HQ709187;NM_018971 AAI60129;ADZ17394;BAA96645;CAL39130;CAV30660;EAW65505;NP_061844;Q9NS67 Hs.591653 SREB1 OTTHUMP00000213532;probable G-protein coupled receptor 27;super conserved receptor expressed in brain 1 APPROVED protein-coding 4482 05542 605187 PROVISIONAL 733771 GPR20 G protein-coupled receptor 20 8 8 8 q24.3 138534610 138545390 - 142435767 142446547 - 142366585 142377365 - 1580863;6480464 9073069;18347022;12477932;21926972 2843 Q59GP3;Q99678 AA601037;AB209066;ABBA01013686;AC100803;AMYH01019072;BC117409;CH471060;DR006873;JQ308168;NM_005293;U66579 AAC51302;AAI17410;AFF59478;BAD92303;EAW92227;NP_005284;Q99678 Hs.188859 2132079;5493517 RH71251;UniSTS:486971 G-protein coupled receptor 20;OTTHUMP00000226808 protein-coding ENSG00000204882 4475 03550 601908 VALIDATED 1344105 GPR19 G protein-coupled receptor 19 12 12 12 p12.3 17962526 17997654 - 12705263 12706671 - 12813995 12849121 - 1580863;6480464 8830667;16344560;16303743;14702039;10480372;12477932;18029348;22912338;23273568 2842 F5GWU2;Q15760;Q6IBH2 ABBA01067846;ABBA01067847;ABBA01067848;AC008115;AK074729;AK096388;AMYH01004292;BC150599;CH471094;CQ782654;CR456832;DB022290;JQ308175;NM_006143;U55312;U64871 AAB00316;AAB49751;AAI50600;AFF59485;BAG51993;CAF85902;CAG33113;EAW96271;NP_006134;Q15760 Hs.657862 1679215;1726097;5492631;5493787 G62234;RH36974;UniSTS:481844;UniSTS:494827 GPR-NGA;OTTHUMP00000239223;probable G-protein coupled receptor 19 protein-coding ENSG00000183150 4473 04236 602927 VALIDATED 1351876 GPR21 G protein-coupled receptor 21 This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012] 9 9 9 q33 96445158 96446207 + 124836667 124837716 + 125796846 125797895 + 1580863;6480464 9073069;15489334;12477932;15090189;22645275 2844 B4DSD1;H9NIL4;Q99679 ABBA01043718;AC007066;AK299686;AK313539;AMYH01021695;BC066885;BC066886;BC067532;BC067533;BC067534;CH471090;DA792401;DN989991;JQ308169;NM_005294;U66580 AAC51303;AAH66885;AAH66886;AAH67532;AAH67533;AAH67534;AFF59479;BAG36316;BAG61593;EAW87559;NP_005285;Q99679 Hs.722039 1797618 GPR21_2093 OTTHUMP00000022075;probable G-protein coupled receptor 21 protein-coding ENSG00000188394 4476 03551 601909 REVIEWED 1343447 GPR32P1 G protein-coupled receptor 32, pseudogene 1 19 19 19 q13.33 48312569 48313635 + 55953232 55954829 + 51261631 51262697 + 9653656 2855 ABBA01068301;AC010325;AF045765;AMYH01009945;NG_001131 GPR32P APPROVED pseudo 4488 INFERRED 1351733 GPR33 G protein-coupled receptor 33 (gene/pseudogene) This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010] 14 14 14 q12 11817510 11818500 - 31021971 31022961 - 31952150 31957151 - 6480464 15987686;9653656;20399748 2856 D8VER1;Q49SQ1 ABBA01061423;ABBA01061424;AF045767;AL163973;AMYH01005642;AY494000;GQ981321;GQ981322;NM_001197184;NR_036675 AAR98754;ADJ17324;NP_001184113;Q49SQ1 Hs.727479 G protein-coupled receptor 33;G protein-coupled receptor 33 pseudogene;probable G-protein coupled receptor 33 APPROVED protein-coding 4489 610118 VALIDATED 1321987 GPR22 G protein-coupled receptor 22 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008] 7 7 7 q22-q31.1 101915775 101921399 + 106897738 106903361 + 107110502 107116125 + 1580863;6480464 9073069;18539757;16344560;15955843;14702039;12853948;12690205;12477932;20112360;21068099;21988832 2845 A4D0R8;B3KV13;Q3KNS9;Q99680 AACC02000004;AB209270;ABBA01057907;AC002381;AK122621;AK307393;AMYH01017830;BC045823;BC107128;BX647649;CH236947;CH471070;DA519131;HC289746;HQ995527;NG_028095;NM_005295;U66581 AAB63815;AAC51304;AAI07129;ADZ31972;BAD92507;BAG53625;CBJ06468;EAL24394;EAW83398;NP_005286;Q99680 Hs.657277 1797620;5493519 GPR22_2242;UniSTS:487004 MGC129847 OTTHUMP00000206927;probable G-protein coupled receptor 22 APPROVED protein-coding ENSG00000172209 4477 03552 601910 REVIEWED 1344931 GPR34P G protein-coupled receptor 34 pseudogene 2858 4491 1313066 GPR31 G protein-coupled receptor 31 6 6 6 q27 168312713 168313672 - 167490350 167491309 - 167570360 167571319 - 1580863 9205127;14574404;12477932;21712392 2853 O00270 ABBA01033434;AL121935;AMYH01016853;BC095537;CD246167;CH471051;NM_005299;U65402 AAC51375;AAH95537;AAI67778;EAW47505;NP_005290;O00270 Hs.248124 12-HETER;HETER;HETER1 12-(S)-HETE acid receptor;12-(S)-HETE receptor;12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (HETE) receptor;12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor;G-protein coupled receptor 31;OTTHUMP00000017616;bA517H2.2 (G protein-coupled receptor 31);hydroxyeicosatetraenoic (HETE) acid receptor 1;probable G-protein coupled receptor 31 protein-coding 4486 03622 602043 VALIDATED 1347063 GPR36 G protein-coupled receptor 36 2860 4493 1323161 GPR25 G protein-coupled receptor 25 This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. This gene has been linked to arterial stiffness. [provided by RefSeq, Nov 2012] 1 1 1 q32.1 173966237 173967322 + 199108789 199109874 + 200842166 200843251 + 1580863;6480464 9020062;17386346;15489334;12477932;22944692 2848 O00155 ABBA01027542;AC099756;AK315339;AMYH01001638;BC126386;BC126388;CH471067;NM_005298;U91939 AAB50155;AAI26387;AAI26389;EAW91322;NP_005289;O00155 Hs.534316 5493033;5493827 UniSTS:483906;UniSTS:495173 OTTHUMP00000033936;probable G-protein coupled receptor 25 protein-coding ENSG00000170128 4480 03707 602174 REVIEWED 1350754 GPR3 G protein-coupled receptor 3 This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimer's disease. [provided by RefSeq, Oct 2012] 1 1 1 p36.1-p35 26116440 26119606 + 27591739 27594905 + 27719148 27722318 + 1580863;6480464 7639700;17953967;16710414;15489334;12649592;12477932;8530049;7851889;7832990;7698767;15591206;19213921;20158988;19322201;21988832;23732663 2827 F1DAM5;P46089 ABBA01034970;AK291185;AK314868;AL096774;AMYH01000422;BC032702;BQ882813;CH471059;HQ709189;L32831;NM_005281;U13668;U18550;X83956 AAA64594;AAA73560;AAB60402;AAH32702;ABM81758;ABM84913;ADZ17396;BAF83874;BAG37383;CAA58787;CAC18517;EAX07754;NP_005272;P46089 Hs.66542 1797628;2122152 GPR3_2356;RH70930 ACCA ACCA orphan receptor;G-protein coupled receptor 3;OTTHUMP00000003475;adenylate cyclase constitutive activator protein-coding ENSG00000181773 4484 02587 600241 REVIEWED 736769 GPR26 G protein-coupled receptor 26 10 10 10 q26.13 119131563 119162551 + 125415861 125444113 + 125425871 125456915 + 1580863;6480464 18037267;15489334;14702039;12477932;11854302;10684976;8401585;17363172;19787267;20379614;23247143 2849 Q8NDV2 ABBA01015460;AC009987;AI076749;AJ505757;AK091093;AL713636;AMYH01003150;BC112011;BC113462;CH471066;NM_153442 AAI12012;AAI13463;CAD44281;EAW49281;EAW49282;NP_703143;Q8NDV2 Hs.12751 1709556;1710262;1711416;1736110;2115285;2132722;2132724;2179927 A005K29;Cda0gg11;D10S1383E;D10S1467;G20286;G42192;SHGC-81866;SHGC-85225 DKFZp761H2121;FLJ33774;MGC138216 G-protein coupled receptor 26;OTTHUMP00000020687 protein-coding 4481 07275 604847 VALIDATED 1343074 GPR32 G protein-coupled receptor 32 This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. The encoded protein binds to resolvin D1 and lipoxin A4 and has been linked to pulmonary inflammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012] 19 19 19 q13.33 48324797 48325867 + 55965670 55966740 + 51273858 51274928 + 1580863;6480464 9653656;15489334;12477932;20080636;22542696 2854 H9NIL6;O75388 ABBA01068301;AC010325;AF045764;AMYH01009945;BC067453;BC067454;BC095544;CH471135;JQ308171;NM_001506 AAC39801;AAH67453;AAH67454;AAH95544;AFF59481;EAW71898;NP_001497;O75388 Hs.515555 1797624 GPR32_2034 RVDR1 probable G-protein coupled receptor 32;resolvin D1 receptor protein-coding ENSG00000142511 4487 04430 603195 REVIEWED 1319732 GPR35 G protein-coupled receptor 35 2 2 q37.3 241217468 241219342 + 241544825 241570676 + 1580863;6480464 9479505;18271057;17940199;15489334;14965362;12477932;11017071;947955;22821403;16341674;16344560;20599711;16754668;20361937;20919992;21297633;22820167;23128233 2859 A8K2J1;B2RA17;Q9HC97 ABBA01048875;ABBA01048876;ABBA01048877;AC124862;AF027957;AF089087;AK131540;AK172786;AK290256;AK314002;AMYH01011623;AMYH01011624;AW000832;AY275467;BC095500;BC117453;BC117455;BM857130;CH471063;CR541765;DB011311;NM_001195381;NM_001195382;NM_005301 AAC52028;AAG17965;AAH95500;AAI17454;AAI17456;AAP32299;AAX88945;BAD18676;BAF82945;BAG36714;CAG46564;EAW71209;EAW71210;NP_001182310;NP_001182311;NP_005292;Q9HC97 Hs.112218 5015810;5015881;5492905 GDB:182516;GDB:335751;UniSTS:483202 G-protein coupled receptor 35;KYNA receptor;OTTHUMP00000164507;OTTHUMP00000201393;OTTHUMP00000201394;OTTHUMP00000201395;kynurenic acid receptor protein-coding ENSG00000178623 4492 16003 602646 VALIDATED 1349710 GPR34 G protein-coupled receptor 34 G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006] X X X p11.4 45690450 45698755 + 41433170 41441474 + 41548226 41556530 + 1580863;6480464 10036181;16341674;16303743;15489334;14702039;12477932;10982042;10395919;8889549;16338117;22966169;22343749 2857 Q5VT14;Q9UPC5 AA130392;ABBA01046632;ABBA01046633;AF039686;AF118670;AK027780;AK074627;AK075217;AK122945;AL627402;AMYH01022235;AW292321;BC020678;BM798913;CH471141;DQ106398;DQ106399;DQ106400;DQ106401;DQ106402;H03136;JF810887;N40174;NG_016754;NM_001097579;NM_005300 AAD17248;AAD50531;AAH20678;AAZ99227;AAZ99228;AAZ99229;AAZ99230;AAZ99231;ABM84024;ABM87369;AEP43754;BAB55362;BAG51978;BAG52087;BAG53811;EAW59396;EAW59397;NP_001091048;NP_005291;Q9UPC5 Hs.495989 1667537;1671790;1702962;1787294;1797626;1855503 DXS1392;GPR34_2219;RH17463;RH78452;SHGC-146100;SHGC-35951 OTTHUMP00000023148;OTTHUMP00000023149;probable G-protein coupled receptor 34 APPROVED protein-coding ENSG00000171659 4490 02213 300241 VALIDATED 735262 GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012] 7 7 q31 124173350 124192917 - 124385655 124406079 - 1580863;6480464;6907045 18344614;21372109;9144577;19218498;18691389;17059562;16539653;15489334;14532270;12853948;12690205;12670421;12477932;12150907;11439185;9526070;9339362;19799451;20237496;20424473;23690594;21139048;23251443;14579121;15572843 2861 A4D0Y6;O15354 AACC02000001;ABBA01057712;ABBA01057713;AC004925;AF017262;AF502281;AMYH01017908;BC040007;CH236947;CH471070;DB475687;DB495592;DB517451;NM_005302;Y12476 AAB70008;AAD08853;AAH40007;AAM18625;ADZ15638;CAA73080;EAL24325;EAW83613;NP_005293;O15354 Hs.406094;Hs.731392 1673755;1676270;2162949;5022683 D7S532E;GPR37;HSC24E072;RH93211 EDNRBL;PAELR;hET(B)R-LP ETBR-LP-1;OTTHUMP00000211681;Parkin-associated endothelin receptor-like receptor;endothelin B receptor-like protein 1;endothelin receptor type B-like;probable G-protein coupled receptor 37 protein-coding 4494 03992 602583 REVIEWED 1352673 GPR42 G protein-coupled receptor 42 (gene/pseudogene) 19 19 19 q13.1 32575706 32576746 + 40554102 40555142 + 35862262 35863302 + 1580863 15684720;15057824;12496283;12477932;9344866;19460454;19630535 2866 O15529 AC002511;AF024689;NG_008348 AAB67885;AAB86712;AAI56086;AAI56954;O15529 1797630 GPR42_2019 FFAR1L;FFAR3L;GPR41L;GPR42P APPROVED pseudo 4500 16033 603822 INFERRED 1343401 GPR53P G protein-coupled receptor 53, pseudogene 6 6 6 p21 31111334 31112591 - 29613258 29614515 - 29505589 29506428 - 9931487 9292 ABBA01038032;AF096785;AL662826;AL662860;AMYH01016195;BX000688;BX247947;BX927223;CR759768;CR759770;CR788300;CR942274;NG_001217 PsiGPR53;dJ271M21.8 pseudo 4509 INFERRED 1606828 GPR37L1 G protein-coupled receptor 37 like 1 1 1 1 q32.1 175215891 175222492 + 200358652 200365257 + 202092029 202098634 + 6480464 9539149;15489334;12477932;8125298;20237496;20360844;23690594 9283 O60883 ABBA01027510;AJ310210;AK222639;AK295576;AK313044;AL592300;AMYH01001644;BC050334;NM_004767;Y16280 AAH50334;BAD96359;BAG35876;BAG58475;CAA76153;NP_004758;O60883 Hs.132049 1700158;2108121;5106033 GPR37L1_8922;RH103692;SHGC-146622 ET(B)R-LP-2;ETBR-LP-2 G-protein coupled receptor 37 like 1;G-protein coupled receptor 37-like 1;OTTHUMP00000034103;endothelin B receptor-like protein 2;endothelin type b receptor-like protein 2 protein-coding ENSG00000170075 14923 13603 VALIDATED 1323148 GPR4 G protein-coupled receptor 4 19 19 q13.3 50784865 50787557 - 46093022 46105466 - 1580863;6480464 7498459;8595909;17462861;17437524;17364894;16461426;16344560;15857892;15489334;15221007;14567679;12955148;12805023;12477932;7832990;20211729;18029348;16754659;22110680 2828 P46093 ABBA01040935;AC011480;AK290698;AMYH01009853;AMYH01009854;BC038450;BC067535;BC067536;BE669939;CH471126;DA858082;EU432116;L36148;NM_005282;U21051 AAA63180;AAA98457;AAH67535;AAH67536;ABY87915;BAF83387;EAW57368;NP_005273;P46093 Hs.17170 1775853;2127332;5016781 RH70611;SGC35535;SHGC-67307 G-protein coupled receptor 19;G-protein coupled receptor 4 protein-coding ENSG00000177464 4497 02773 600551 VALIDATED 1346636 GPR50 G protein-coupled receptor 50 This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010] X X q28 150095717 150100588 + 150345056 150349937 + 1580863;6480464 8647286;18400093;18075476;16778767;16436372;15452587;15342556;12767050;12477932;9933574;20210849;20657642;20733416;19699797;20050988;20351714;20371266;20377855;20424473;20737950;21565467 9248 Q13585 ABBA01037201;AF003625;AMYH01023219;AY114101;AY114102;BC103696;BC105683;BC105684;BP245442;CH471169;EU432118;NG_016405;NM_004224;U52219 AAC50614;AAI03697;AAI05684;AAI05685;AAM78368;AAM78369;ABY87917;EAW99402;NP_004215;Q13585 Hs.567390 1683801;2217382 GPR50_2870;RH71238 H9;MGC125342;Mel1c OTTHUMP00000025869;melatonin-related receptor APPROVED protein-coding ENSG00000102195 4506 02194 300207 REVIEWED 1315539 GPR39 G protein-coupled receptor 39 2 2 q21-q22 132890617 133120639 + 133174147 133404169 + 1580863;6480464 9441746;18588883;18180304;17885920;17488974;17054911;16959833;16344560;15815621;15489334;15383539;14702039;12477932;8889548;18815158;19920139;20379614;20424473;20522546;21352519;22879599;21900206;22545109 2863 O43194;Q53RU7 ABBA01028213;ABBA01028214;AC079773;AC098800;AC104405;AF034633;AI459805;AK122643;AK314895;AMYH01011109;BC125046;BC125047;BK005609;BM981455;CH471058;CS323625;DA596795;DA636860;DA653793;EU076432;FB667670;FJ348258;NM_001508 AAC26082;AAI25047;AAI25048;AAX93106;AAY24154;ABU53902;ACI96302;BAG37409;BAG53636;CAK96158;CAS92673;DAA06055;EAX11678;EAX11679;EAX11680;NP_001499;O43194 Hs.432395;Hs.744392 1298184;1342382;1671300;1690372;1704878;1866840;2107373;2125126;2177155;7187058 D2S112;D2S1415;D2S2219;MGC29643__7700;REN4084;RH44409;RH65413;RH80444;SHGC-79913 MGC149541 G-protein coupled receptor 39;OTTHUMP00000162457 protein-coding ENSG00000183840 4496 04198 602886 VALIDATED 1314767 GPR45 G protein-coupled receptor 45 This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008] 2 2 2 q11.1-q12 100058695 100060419 + 105224632 105226356 + 105858200 105859924 + 6480464 17474147;15815621;15489334;12477932;11027575;11027574;10036181 11250 B5B0C1;O43898;Q9Y5Y3 ABBA01073863;AC012360;AF118266;AMYH01010833;BC066879;BC066880;BC067455;CH471127;EU883573;NM_007227;U92642 AAB93884;AAD21056;AAH66879;AAH66880;AAH67455;AAY15009;ACG60647;EAX01766;NP_009158;Q9Y5Y3 Hs.590903 1797632;5492629;5492661 GPR45_2561;UniSTS:481842;UniSTS:481936 PSP24;PSP24(ALPHA);PSP24A OTTHUMP00000161372;PSP24-1;PSP24-alpha;high-affinity lysophosphatidic acid receptor;probable G-protein coupled receptor 45 APPROVED protein-coding ENSG00000135973 4503 05325 604838 REVIEWED 1353875 GPR52 G protein-coupled receptor 52 Members of the G protein-coupled receptor (GPR) family play important roles in signal transduction from the external environment to the inside of the cell.[supplied by OMIM, Jul 2002] 1 1 1 q24 147526602 147528073 + 172683835 172685306 + 174417212 174418683 + 1580863 9931487;16710414;16344560;15489334;12477932;21044950 9293 F2YGU0;Q9Y2T5 ABBA01027879;AF096784;AL022171;AMYH01001509;BC067456;BC067457;BC067458;BC067459;BC067460;BC069460;BC095532;CH471067;DA174341;DB168074;HQ995526;NM_005684 AAD22409;AAH67456;AAH67457;AAH67458;AAH67459;AAH67460;AAH69460;AAH95532;ADZ31971;EAW90976;NP_005675;Q9Y2T5 Hs.673850 2151215;5492409 SHGC-75884;UniSTS:480957 MGC111751 OTTHUMP00000032861;probable G-protein coupled receptor 52 APPROVED protein-coding ENSG00000203737 4508 07247 604106 VALIDATED 1352005 GPR56 G protein-coupled receptor 56 This gene encodes a member of the G protein-coupled receptor family. The protein contains 7 transmembrane domains and a mucin-like domain in the N-terminal region. The gene is implicated in the regulation of brain cortical patterning. The protein binds specifically to transglutaminase 2 in the extracellular space. Expression of this gene is downregulated in melanoma cell lines, and overexpression of this gene can suppress tumor growth and metastasis. Mutations in this gene result in bilateral frontoparietal polymicrogyria. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 16 16 q13 56211459 56256445 + 57653910 57698944 + 708336;6480464;7240710 10049584 15489334;15004227;15044805;15674329;18042463;17932623;17314516;16757564;16344560;16303743;15916848;15340161;12975309;12477932;11845408;10100861;19572147;20874003;19016831;19525879;20008459;20424473;20301504;17192395;21349848;21708946;21724588;21724806;23274687;21723461;21987572;22238662 9289 B3KQN7;B3KQV4;E7ENB2;F5H144;H3BM73;H3BMC2;H3BMF8;H3BMY9;H3BNH4;H3BNN3;H3BP67;H3BP94;H3BPA6;H3BPC0;H3BQ11;H3BQ46;H3BQJ9;H3BQW4;H3BQZ1;H3BRA1;H3BRB4;H3BRH0;H3BRI2;H3BRI7;H3BRZ4;H3BS14;H3BS54;H3BS94;H3BS98;H3BSB8;H3BSF7;H3BSJ6;H3BSN3;H3BSN7;H3BSP5;H3BSR1;H3BT88;H3BTD2;H3BTH7;H3BTK9;H3BUF5;H3BUH2;H3BUI6;H3BUU6;H3BV52;H3BV72;H3BV84;H3BVA0;H3BVD3;H3BVE9;Q96HB4 AB065909;ABBA01025277;AC018552;AF106858;AJ011001;AK074399;AK075270;AK075555;AK131550;AK297236;AK299110;AK311156;AK312405;AL137591;AMYH01007704;AY358400;BC008770;BC013207;BE893273;BT007311;CH471092;CR936747;DA245676;DA386131;DC369393;EU432119;NG_011643;NM_001145770;NM_001145771;NM_001145772;NM_001145773;NM_001145774;NM_005682;NM_201524;NM_201525 AAD30545;AAH08770;AAP35975;AAQ88766;ABY87918;BAC06124;BAD18684;BAG52099;BAG52166;BAG59718;BAG61166;CAB37294;EAW82939;EAW82940;EAW82941;EAW82942;EAW82943;EAW82944;EAW82945;NP_001139242;NP_001139243;NP_001139244;NP_001139245;NP_001139246;NP_005673;NP_958932;NP_958933;Q9Y653 Hs.513633 1339194;1797640;2130351;7186523 D16S514;GPR56_2066;SHGC-61153 BFPP;DKFZp781L1398;TM7LN4;TM7XN1 7-transmembrane protein with no EGF-like N-terminal domains-1;EGF-TM7-like;G-protein coupled receptor 56 APPROVED protein-coding ENSG00000205336 4512 06824 604110;606854 REVIEWED 1348516 GPR55 G protein-coupled receptor 55 Members of the G protein-coupled receptor (GPR) family, such as GPR55, play important roles in signal transduction from the external environment to the inside of the cell (Sawzdargo et al., 1999 [PubMed 9931487]).[supplied by OMIM, Apr 2008] 2 2 q37 231480287 231498185 - 231772043 231789941 - 6480464 9931487;18757503;18445684;18263732;17876302;17765871;15489334;12477932;23161546;18577758;20051382;18240029;19723626;19805329;20506567;19913121;20628086;20818416;20838378;22285325;21534610;21367464;21467997;21537344;21718301;22179809;22751111;22820167;23151004 9290 A8K858;C9J1P7;Q9Y2T6 ABBA01050108;AC012507;AF096786;AK292223;AMYH01011554;BC032694;CH471063;CR541776;FJ348259;NM_005683 AAD22410;AAH32694;ABM81807;ABM84961;ACI96303;BAF84912;CAG46575;EAW70939;EAW70940;NP_005674;Q9Y2T6 Hs.114545 1658346;2162255 L17684;SGC38350 G-protein coupled receptor 55;OTTHUMP00000164296;OTTHUMP00000204443;OTTHUMP00000204444 APPROVED protein-coding ENSG00000135898 4511 07248 604107 VALIDATED 1351718 GPR62 G protein-coupled receptor 62 3 3 3 p21.1 51968157 51970347 + 51964370 51966560 + 51989330 51991520 + 1580863;6480464 12477932;12044878;11165367 118442 Q8TAM0;Q9BZJ7 AB032600;AB083590;ABBA01024518;AC115284;AF317653;AI951672;AMYH01013180;BC026357;CH471055;NM_080865 AAH26357;AAK12638;BAB89303;BAD83591;EAW65164;NP_543141;Q9BZJ7 Hs.232213 1661928;1797642 GPR62_2049;STS-W84536 GPCR8;KPG_005;MGC26943 G-protein coupled receptor GPCR8;G-protein coupled receptor KPG_005;OTTHUMP00000212046;hGPCR8;probable G-protein coupled receptor 62 APPROVED protein-coding ENSG00000180929 13301 06078 606917 VALIDATED 737528 GPR6 G protein-coupled receptor 6 6 6 6 q21 111046984 111048609 + 110406991 110408616 + 110300298 110301923 + 632853;1580863;6480464 8530049 7832990;15489334;14574404;12649592;12477932;20677014;22487033 2830 F1DAM6;J3KQR3;P46095 ABBA01026121;AK295250;AL591076;AMYH01016586;BC043414;BC117298;BC126301;CF147782;CH471051;HQ709190;L36150;NM_005284;U18549 AAA63181;AAA91631;AAH43414;AAI17299;AAI26302;ADR82964;ADR82970;ADZ17397;BAG58241;EAW48331;NP_005275;P46095 Hs.46332 1667103;2130744;2132261;2152534;2189535;5493401 D6S2092;Gpr6;RH46833;RH70579;STS-U18549;UniSTS:486089 G-protein coupled receptor 6;OTTHUMP00000016981;sphingosine 1-phosphate receptor GPR6 protein-coding ENSG00000146360 4515 02775 600553 VALIDATED 1320923 GPR61 G protein-coupled receptor 61 This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108351793 108357754 + 109884017 109889978 + 110082494 110088455 + 1580863;6480464 19025769;21832049;16710414;16344560;15615699;15489334;12477932;12044878;11690637;11165367;19834535;23362303 83873 G4XH66;Q9BZJ8 AB083585;ABBA01068380;AF258342;AF317652;AK290027;AL355145;AL355310;AMYH01000933;BC067464;BC095507;BX491451;CH471122;DA176879;JF810889;NG_032758;NM_031936 AAH67464;AAK12637;AAK97826;AEP43756;BAB89298;BAF82716;EAW56392;NP_114142;Q9BZJ8 Hs.709782 2108123 GPR61_8109 BALGR;GPCR3 OTTHUMP00000229951;biogenic amine receptor-like G-protein coupled receptor;biogenic amine receptor-like GPCR;probable G-protein coupled receptor 61 APPROVED protein-coding ENSG00000156097 13300 06077 606916 REVIEWED 735317 GPR64 G protein-coupled receptor 64 This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X p22.13 23127421 23261162 - 18917346 19050598 - 19007425 19140755 - 6480464 9150425;18029348;17081983;12477932;12420295;9739419;11973329 10149 A8K4P7;C9JWS0;Q14CE0;Q499H0;Q8IZE5 ABBA01071718;ABBA01071719;ABBA01071720;ABBA01071721;ABBA01071722;ABBA01071723;ABBA01071724;ABBA01071725;ABBA01071726;ABBA01071727;ABBA01071728;ABBA01071729;ABBA01071730;ABBA01071731;ABBA01071732;ABBA01071733;ABBA01071734;AF538954;AF539455;AF539456;AK090402;AK291012;AK309439;AL732509;AL732578;AMYH01022123;AY143364;AY143365;AY143366;AY143367;AY148343;BC063315;BC099901;BC113978;BC113979;CH471074;CS223389;NG_021304;NM_001079858;NM_001079859;NM_001079860;NM_001184833;NM_001184834;NM_001184835;NM_001184836;NM_001184837;NM_005756;X81892 AAH99901;AAI13979;AAI13980;AAN33056;AAN33064;AAN33065;AAN38971;AAN38972;AAN38973;AAN38974;AAN75702;BAC03383;BAF83701;CAA57479;CAJ46934;EAW98952;EAW98953;EAW98954;EAW98955;EAW98956;EAW98957;NP_001073327;NP_001073328;NP_001073329;NP_001171762;NP_001171763;NP_001171764;NP_001171765;NP_001171766;NP_005747;Q8IZP9 Hs.146978 1787344;1791219;1791223;2127163;2144844;2150152;5014051;5022651;5037552;5095064 491N21_SP6;497J19_SP6;D11S2921;D8S2278;D8S2279;DXS7161;GPR64;RH48517;SHGC-155103;SHGC-57689 EDDM6;FLJ00282;HE6;MGC104454;MGC138738;MGC138739;TM7LN2 G protein-coupled receptor, epididymis-specific (seven transmembrane family);G-protein coupled receptor 64;OTTHUMP00000023008;OTTHUMP00000023009;OTTHUMP00000023010;OTTHUMP00000023011;OTTHUMP00000023012;OTTHUMP00000215232;OTTHUMP00000215233;epididymal protein 6;human epididymis-specific protein 6 APPROVED protein-coding ENSG00000173698 4516 04040 300572 REVIEWED 1350376 GPR79 G protein-coupled receptor 79, pseudogene 3 3 3 q25.32 156981616 156982633 - 160041550 160042567 - 158558856 158559873 - 19146662;11574155 27200 ABBA01058812;AC092999;AF411108;AMYH01013609;NG_001272 GPR79P APPROVED pseudo 4529 INFERRED 1315091 GPR63 G protein-coupled receptor 63 This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 6 6 6 q16.1-q16.3 97887934 97927394 - 97352645 97391921 - 97241998 97285353 - 1580863;6480464 17474147;16344560;15489334;14574404;12618218;12477932;11165367;11027575;11027574;16751776;20467438 81491 A8K1C4;Q9BZJ6 AB030566;AB209347;ABBA01014523;ABBA01014524;AF317654;AI208851;AK289839;AK313535;AL033379;AL159985;AMYH01016528;BC067465;BC067466;BC067467;BC067468;BC067469;CH471051;DA242987;DB119067;DQ586203;FJ348260;JB028789;NM_001143957;NM_030784 AAH67465;AAH67466;AAH67467;AAH67468;AAH67469;AAK12639;ACI96304;BAB20031;BAD92584;BAF82528;BAG36312;CCV20024;EAW48502;NP_001137429;NP_110411;Q9BZJ6 Hs.221364;Hs.744816 1678877;1797644;5492459 GPR63_2265;RH76687;UniSTS:481126 PSP24(beta);PSP24B OTTHUMP00000016881;PSP24-2;PSP24-beta;brain expressed G-protein-coupled receptor PSP24 beta;probable G-protein coupled receptor 63 APPROVED protein-coding 13302 06076 606915 VALIDATED 1343209 GPR75 G protein-coupled receptor 75 GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002] 2 2 2 p16 53920904 53927988 - 53933554 53940572 - 54080050 54087170 - 1580863;6480464 10381362;15815621;15489334;12477932 10936 O95800 ABBA01075242;ABBA01075243;AC008068;AF072693;AF101472;AK314885;AMYH01010356;BC067475;BC067476;CH471053;NM_006794 AAD19849;AAD22770;AAH67475;AAH67476;AAY15018;BAG37399;EAX00162;NP_006785;O95800 Hs.40763 1797654;2115569;2134157 GPR75_2050;SHGC-31133;WIAF-2144 GPRchr2;MGC132002;WI31133 OTTHUMP00000159608;probable G-protein coupled receptor 75 APPROVED protein-coding ENSG00000119737 4526 09462 606704 VALIDATED 5132026 GPR75-ASB3 GPR75-ASB3 readthrough This locus represents naturally occurring read-through transcription between the neighboring GPR75 (G protein-coupled receptor 75) and ASB3 (ankyrin repeat and SOCS box containing 3) on chromosome 2. The transcript includes exons from both GPR75 and ASB3 and translation initiates in the 5' non-coding exon of GPR75. The resulting protein has a novel N-terminus but is otherwise identical to that encoded by ASB3.[provided by RefSeq, Feb 2011] 2 2 p16 53738284 53928032 - 53897430 54087170 - 12477932;15342556;16344560;20967262 100302652 H7BYZ6;Q9NVZ2 ABBA01075236;ABBA01075237;ABBA01075238;ABBA01075239;ABBA01075240;ABBA01075241;ABBA01075242;ABBA01075243;AC007883;AC008064;AC008068;AC009241;AC009490;AC010967;AC016714;AC069157;AMYH01010355;AMYH01010356;BC110915;DC314536;NM_001164165 AAI10916;NP_001157637 Hs.40763 1652430;1666020;1673255;1683860;1715515;1797654;1847441;1850234;2115569;2130966;2131081;2134157;2158436;2168157;2173021;2190555 A002T41;A006Z48;D2S2570;EST26H8;G17801;G27383;G31468;GPR75_2050;RH120980;RH69613;RH92206;SHGC-12264;SHGC-31133;SHGC-37399;WI-15186;WIAF-2144 MGC132002 GPR75-ASB3 protein;OTTHUMP00000200613 APPROVED protein-coding ENSG00000115239;ENSG00000270898 40043 VALIDATED 1323495 GPR65 G protein-coupled receptor 65 14 14 14 q31-q32.1 68517156 68526848 + 87541249 87548168 + 88471468 88481155 + 6480464 9655242;19234222;15665078;15618224;15489334;15326175;15221007;12508121;12477932;11309421;20855608;21102463;16754659;22445881;21833088;23128233;22685289 8477 B5B0C2;Q8IYL9 ABBA01030534;AK313797;AL157955;AMYH01005931;BC035633;BC071715;CH471061;EU883574;JA738805;NM_003608;U95218 AAC31794;AAH35633;AAH71715;ABM81760;ABM84915;ACG60648;BAG36533;CCF77055;EAW81365;NP_003599;Q8IYL9 Hs.443243 1662213;1729427;5037552 D14S34;D8S2279;SHGC-56573 TDAG8;hTDAG8 G-protein coupled receptor 65;OTTHUMP00000218026;T-cell death-associated gene 8 protein;psychosine receptor protein-coding 4517 07057 604620 VALIDATED 1319965 GPR68 G protein-coupled receptor 68 14 14 q31 90768629 90789977 - 91698876 91720224 - 1580863;6480464 8661159;7498459;18302504;17728215;16087674;15665078;15489334;15146197;14567679;12955148;12477932;12069813;8889548;22835475;20237496;20622109;16754659;17207965;22508039;21740742;21907704 8111 A1A5B2;E9PNU7;Q15743 ABBA01030481;ABBA01030482;AL135818;AMYH01005951;AY615372;BC067470;BC067471;BC067472;BC069592;BC096071;BC096072;BC096073;BC096074;BC098567;BC128536;BM723705;CH471061;CN287036;EU883575;NM_001177676;NM_003485;U35398;U48405 AAA79060;AAC50596;AAH67470;AAH67471;AAH67472;AAH69592;AAH96071;AAH96072;AAH96073;AAH96074;AAH98567;AAI28537;AAT38917;ACG60649;ADQ31978;EAW81447;EAW81448;NP_001171147;NP_003476;Q15743 Hs.8882 1669450;1797646;2132938;2132940;5094719;5492637;5492825 A005M17;G20331;GPR68_2195;Gpr68;UniSTS:481855;UniSTS:482899;WI-20177 GPR12A;MGC111379;MGC156983;OGR1 G-protein coupled receptor 68;OTTHUMP00000236281;OTTHUMP00000236282;ovarian cancer G protein-coupled receptor, 1;ovarian cancer G-protein coupled receptor 1;sphingosylphosphorylcholine receptor protein-coding ENSG00000119714 4519 03241 601404 VALIDATED 1351563 GPR78 G protein-coupled receptor 78 The protein encoded by this gene belongs to the G protein-coupled receptor family, which contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. This is an orphan receptor, which displays significant level of constitutive activity. Association analysis shows preliminary evidence for the involvement of this gene in susceptibility to bipolar affective disorder and schizophrenia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] 4 4 4 p16.1 8475095 8482325 + 8633191 8640420 + 8581964 8591750 + 6480464 19328558;16389273;15489334;12975309;12477932;11574155;17363172;21832049;21660448 27201 B2R7M4;D6RB95;Q96P69 AB065673;ABBA01008701;AC105345;AF411107;AK128807;AK307281;AK308759;AK313038;AMYH01013930;AY359107;BC057778;BC069343;BC069813;BE645298;CH471131;JF810885;NM_080819;NR_045511 AAH57778;AAH69343;AAH69813;AAL26479;AAQ89465;AEP43752;BAC05898;BAG35871;BAG54739;EAW82336;NP_543009;Q96P69 Hs.740355 1685626;2113616;2113618;2113620;2113622;2113624;2113626;2113628;2113630 SHGC-67332;stGPR26L.2b;stGPR26L.4;stGPR26L.5;stGPR26Lex1a;stGPR26Lex2;stGPR26Lex3;stGpr26l.3b;stGpr78ex1b.3 FLJ98800 G-protein coupled receptor 78;OTTHUMP00000217514 APPROVED protein-coding 4528 06081 606921 REVIEWED 1352259 GPR83 G protein-coupled receptor 83 11 11 11 q21 91398304 91422417 - 93750131 93774066 - 94110477 94134585 - 1580863;6480464 10760605;16785516;16344560;12477932;11060465;10819331;17207965;20200545;22566498 10888 F5GZ43;Q9NYM4 AB040973;ABBA01040031;AF236081;AI914177;AK315161;AMYH01003965;AP000765;BC067473;BC067474;BE670361;CH471065;DA317535;EU432120;NM_016540;Y19228 AAF43705;AAH67473;AAH67474;ABY87919;ADQ32055;BAA96064;BAG37605;CAC19039;EAW66929;NP_057624;Q9NYM4 Hs.272385 1674715;1721579;1733298;2110437;5022578;5037552 D11S1926;D1S1423;D8S2279;G59799;GPR83_7278;WIAF-1564 GIR;GPR72 G protein-coupled receptor 72;G-protein coupled receptor 72;OTTHUMP00000236828;OTTHUMP00000236829;glucocorticoid induced receptor;probable G-protein coupled receptor 83 protein-coding ENSG00000123901 4523 16125 605569 VALIDATED 1354119 GPR82 G protein-coupled receptor 82 The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011] X X X p11.4 45725632 45731612 + 41468352 41472393 + 41583408 41589388 + 1580863 15489334;12477932;12044878;11574155;19377476 27197 Q96P67 AB065935;AB083595;ABBA01046624;ABBA01046625;AF411111;AJ319076;AK122626;AK313702;AL627402;AL832460;AMYH01022235;BC070180;CH471141;JQ308170;NG_016566;NG_016754;NM_080817 AAH70180;AAL26482;AFF59480;BAB89308;BAC06150;BAG36448;BAG53628;CAC87490;EAW59395;NP_543007;Q96P67 Hs.567457 1731369;1797658;5020948;5022200;5022450;5022578;5037552;7184802 D10S275;D18S21;D1S1423;D8S2279;G35510;GPR82_2567;L18426 OTTHUMP00000023147;probable G-protein coupled receptor 82 APPROVED protein-coding ENSG00000171657 4533 06084 300748 VALIDATED 1625469 GPR89C G protein-coupled receptor 89C 1 1 q21.1 144595225 144635406 + 145883868 145924049 + 16710414;21906983;21963094 728932 A6NKF9;H0YFP4 AL356004;AMYH01001373;CD102528;NM_001097616 A6NKF9;CAI17085;NP_001091085 Hs.559115 5091808;5115163 SHGC-75406;WI-15443 OTTHUMP00000015580;Putative protein GPR89C;putative Golgi pH regulator C protein-coding ENSG00000196644 31985 VALIDATED 1346240 GPR89P G protein-coupled receptor 89 pseudogene 6 6 6 p21 29310368 29312307 - 27812333 27814210 - 27704354 27706293 - 394254 ABBA01038009;AL009179;AMYH01016189;NG_000934 C11H1.2-Lp;SH120P pseudo 13951 INFERRED 1344521 GPR90 G protein-coupled receptor 90 56669 4541 735493 GPR88 G protein-coupled receptor 88 1 1 1 p21.3 99264881 99268736 + 100776316 100780171 + 101003728 101007583 + 1580863;6480464 11056049;12477932;8125298 54112 Q9GZN0 AB042410;AB042411;ABBA01045438;ABBA01045439;AC099670;AF086060;AK225748;AMYH01000826;AY336999;BC036775;CH471097;NM_022049 AAH36775;AAI72248;AAQ76787;BAB18247;BAB18248;EAW72954;NP_071332;Q9GZN0 Hs.170053 1700340;1797660 GPR88_2022;RH103790 STRG G protein coupled receptor 88;G-protein coupled receptor 88;OTTHUMP00000012649;probable G-protein coupled receptor 88;striatum-specific G-protein coupled receptor protein-coding ENSG00000181656 4539 16248 607468 VALIDATED 736296 GPR85 G protein-coupled receptor 85 Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008] 7 7 7 q31 107533050 107540415 - 112507704 112515069 - 112720468 112727833 - 70648;6480464 10833454 18951430;18413613;16381901;16344560;15893849;15489336;12853948;12477932;12408996;11256614;11230166;11076863;10978537;9847074 54329 A4D0T8;C9JBQ9;C9JDK8;P60893;Q8NEN2 AACC02000001;AB040800;AB065688;ABBA01057837;AC073346;AF250237;AK297464;AK302769;AK309392;AK312587;AL161959;AMYH01017863;BC030577;CH236947;CH471070;CS382014;DA151528;DA483702;DA596250;DA768938;DC305161;FB764506;JF810886;NM_001146265;NM_001146266;NM_001146267;NM_018970 AAF79956;AAH30577;AAQ93365;AEP43753;BAA96646;BAC05911;BAG35481;BAG59886;BAG63977;CAB82307;CAL38405;CAL38430;CAL39131;CAV30661;EAL24372;EAW83476;NP_001139737;NP_001139738;NP_001139739;NP_061843;P60893 Hs.152009 FLJ50993;FLJ51159;FLJ99433;SREB;SREB2 OTTHUMP00000211043;OTTHUMP00000211044;OTTHUMP00000211045;OTTHUMP00000211046;OTTHUMP00000211047;probable G-protein coupled receptor 85;seven transmembrane helix receptor;super conserved receptor expressed in brain 2 APPROVED protein-coding ENSG00000164604 4536 05543 605188 VALIDATED 1323208 GPR84 G protein-coupled receptor 84 12 12 12 q13.13 54408078 54410119 - 53042496 53044525 - 54756229 54758270 - 1331358;1580863;6480464 11273702 15489334;12477932;12044878;11404393;15342556;19460454;23449982 53831 Q9NQS5 AB083586;ABBA01008371;AC078778;AF237762;AF282693;AK290394;AMYH01004488;BC020614;BP303386;CD366881;CH471054;FJ348261;NM_020370 AAF91467;AAH20614;AAK01857;ABM84143;ABM87545;ACI96305;BAB89299;BAF83083;EAW96776;NP_065103;Q9NQS5 Hs.306199 1795942 GPR84_337 EX33;GPCR4 G-protein coupled receptor 84;OTTHUMP00000242245;inflammation-related G protein-coupled receptor EX33;inflammation-related G-protein coupled receptor EX33 protein-coding ENSG00000139572 4535 16213 606383 VALIDATED 1317287 GPR87 G protein-coupled receptor 87 This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011] 3 3 3 q24 149424590 149447354 - 152494587 152517326 - 151011874 151034636 - 1331358;6480464 11273702 18183596;18057535;17905198;15489334;15342556;14702039;12477932;11574155;19602589 53836 Q9BY21 AB031548;ABBA01058910;AC024886;AC078816;AF086432;AF237763;AF345566;AF411114;AK027784;AMYH01013580;BC009540;BC112941;BC117565;BC132888;BC132890;BP226924;CH471052;CQ859808;EU883576;NG_021244;NM_023915 AAH09540;AAI12942;AAI17566;AAI32889;AAI32891;AAK01858;AAK29069;AAL26485;ACG60650;ADR82963;BAB55366;BAD83583;CAH25954;EAW78808;NP_076404;Q9BY21 Hs.591292 1338430;1340218;1729397;1759119;1851324;7186207 D3S1279;D3S1594;G54363;SHGC-13689;SHGC-151126 FKSG78;GPR95;KPG_002;MGC131898 G protein-coupled receptor 95;G-protein coupled receptor 87;G-protein coupled receptor 95;OTTHUMP00000216777;orphan GPCR 87 APPROVED protein-coding ENSG00000138271 4538 16209 606379 VALIDATED 1348396 GPR89B G protein-coupled receptor 89B 1 1 q21.1 145867130 145932377 + 147400506 147465753 + 1580863;6480464 18794847;16710414;15489334;14702039;12975309;12761501;12477932;11042152;10810093;8125298 51463 Q659E2;Q6NVY5 AC239801;AF151035;AK302266;AL133020;AL445591;AMYH01001373;BX537254;DC305701;NM_016334;U78723 AAF21463;AAF36121;AAI56844;ABM81576;BAG63613;CAH56393;CAH72386;CAI18821;NP_057418;P0CG08 Hs.645432 1701668;2140331;5091808;5115163 AL009955;RH104506;SHGC-75406;WI-15443 FLJ55546;GPHR;GPR89;SH120 Golgi pH regulator A;Golgi pH regulator B;OTTHUMP00000015424;g protein-coupled receptor 89;protein GPR89;putative MAPK-activating protein PM01;putative NF-kappa-B-activating protein 90 protein-coding ENSG00000188092 13840 13604 612806 VALIDATED 1346303 GPRASP2 G protein-coupled receptor associated sorting protein 2 The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] X X X q22.1 102406295 102412645 + 101853996 101859317 + 101967104 101972661 + 737633;1580863;6480464 12477932 15383276;16835690;16381901;15772651;15489336;15489334;15086532;14702039;11076863;21145461;16344560;19615732;20479760;17043677;21900206 114928 B3KW05;Q96D09 AA906216;ABBA01020964;AK092981;AK094646;AK096067;AK123832;AL035427;AL522674;AL832187;AMYH01022792;BC013576;BC036772;BC051707;BG719561;BX509838;CH471190;DA231935;DA238794;DA333852;DA389655;DA776293;NG_021322;NM_001004051;NM_001184874;NM_001184875;NM_001184876;NM_138437 AAH13576;AAH36772;BAG53967;CAL38493;EAW54727;EAW54728;EAW54729;NP_001004051;NP_001171803;NP_001171804;NP_001171805;NP_612446;Q96D09 Hs.522729;Hs.731996 1659996;1787252 RH78520;SHGC-143390 FLJ35662;FLJ37327;GASP2 G-protein coupled receptor-associated sorting protein 2;OTTHUMP00000023714 APPROVED protein-coding ENSG00000158301 25169 06612 REVIEWED 1642209 GPR89A G protein-coupled receptor 89A GPR89A is a nearly identical copy of the GPR89B gene (MIM 612806).[supplied by OMIM, Jun 2009] 1 1 q21.1 144475952 144538460 - 145764595 145827103 - 12761501;16710414;15489334;14702039;12975309;12477932;11042152;10810093;8125298;18794847;19135895;21906983 653519 B4DLT3;E9PKY3;E9PRZ5;Q659E2;Q6NVY5 AB097024;AB097025;ABBA01005738;ABBA01027330;AC239860;AC242845;AF132947;AK001354;AK021758;AK094228;AK223223;AK297145;AK299995;AK301939;AK316371;AL390725;AMYH01001155;AX881564;AY358966;BC003187;BC067816;BC146880;BT006679;BX511042;CR628408;DC349534;NM_001097612;NM_001097613;NR_036541 AAD27722;AAH03187;AAH67816;AAI46881;AAP35325;AAQ89325;ABM84756;B7ZAQ6;BAC77377;BAC77378;BAD96943;BAG51045;BAG59645;BAG61815;BAG63359;BAH14742;CAE91312;CAI13224;CAI13712;CAM28366;NP_001091081;NP_001091082 Hs.504320;Hs.559115 1701668;2140331;2177393;5091808;5115163 AL009955;RH104506;RH35978;SHGC-75406;WI-15443 FLJ10492;FLJ11696;FLJ36909;FLJ79270;GPR89B;MGC688;MGC87324;UNQ192 Golgi pH regulator A;OTTHUMP00000015575;OTTHUMP00000234808;OTTHUMP00000234809;protein GPR89;putative MAPK-activating protein PM01;putative NF-kappa-B-activating protein 90 APPROVED protein-coding ENSG00000117262 31984 612821 VALIDATED 1352441 GPRC6A G protein-coupled receptor, family C, group 6, member A Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010] 6 6 6 q22.1 117856343 117893293 - 117219941 117256891 - 117113248 117150198 - 6480464 16199532;15576628;15194188;14574404;12044878;11329013;20654748;20676098;19874200;23269670;23271661;17478059;16754659;21300955;22662242;23728177;21681779 222545 Q5T6X5 AB065680;AB083615;ABBA01026045;AF502962;AL354716;AMYH01016617;AY435125;AY435126;AY435127;BG191110;CH471051;JA739949;JA762083;NM_148963 AAI41420;AAM22230;AAS13465;AAS13466;AAS13467;BAB89328;BAC05904;CCF77881;CCF82064;EAW48214;NP_683766;Q5T6X5 Hs.266745 2107181 GPRC6A__7544 GPCR;bA86F4.3 G-protein coupled receptor GPCR33;G-protein coupled receptor family C group 6 member A;OTTHUMP00000017075;OTTHUMP00000229704;OTTHUMP00000229705;hGPCR33;hGPRC6A;predicted with SOSUI analysis;seven transmembrane helix receptor APPROVED protein-coding ENSG00000173612 18510 17074 613572 VALIDATED 1318161 GPR98 G protein-coupled receptor 98 This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008] 5 5 q13 89890373 90495789 + 89854617 90460033 + 1580863;6480464;7240710 10234513;7901420;11606593;10976914;15671307;12402266;14740321;16434480;15203201;19357117;18854872;18463160;17903296;16344560;15203218;14702039;12477932;12217514;12168954;11853319;11545713;11230166;10745043;10587582;9734811;19683999;19730683;20195266;20200978;20379614;19913121;20628086;20801516;22147658;22419726;20301515;23251661 84059 D6RIF0;H0Y8U6;H0Y9Q4;Q8WXG9 AB014586;AB075823;ABBA01062155;ABBA01062156;ABBA01062157;ABBA01062158;ABBA01062159;ABBA01062160;ABBA01062161;ABBA01062162;AC027323;AC034215;AC074132;AC093281;AC093529;AC094109;AC099512;AF055084;AF435925;AK024416;AL133041;AL136541;AMYH01015478;AMYH01015479;AMYH01015480;BC034748;BI758469;BX493741;CD633594;CH471084;DA503892;NG_007083;NM_032119;NR_003149 AAD55586;AAL30811;BAA31661;BAB85529;BAG51297;CAB61369;CAB66476;EAW95986;EAW95987;EAW95988;EAW95989;EAW95990;EAW95991;EAW95992;EAW95993;EAW95994;NP_115495;Q8WXG9 Hs.591777 1299951;1335243;1335576;1336929;1337197;1341063;1342348;1703466;1711070;1724097;1724889;1747649;1751395;1780108;1848155;2107323;2156032;2181670;5119152;5491806;7183687;7184262;7185107;7186435 D3S1578;D3S3647;D3S3658;D5S1463;D5S1832E;D5S1898;D5S428;D5S433;D5S484;G17003;G65490;GPR98;L28341;MASS1__7378;RH118790;RH119209;SHGC-105215;SHGC-154422;SHGC-82576;SHGC-86171 DKFZp761P0710;FEB4;KIAA0686;MASS1;USH2B;USH2C;VLGR1;VLGR1b G-protein coupled receptor 98;OTTHUMP00000222494;monogenic audiogenic seizure susceptibility protein 1 homolog;monogenic, audiogenic seizure susceptibility 1 homolog;monogenic, audiogenic seizure susceptibility 1 homolog (mouse);usher syndrome type-2C protein;very large G protein-coupled receptor 1;very large G-protein coupled receptor 1 APPROVED protein-coding ENSG00000164199 17416 09111 602851;604352;605472 REVIEWED 1313843 GPR97 G protein-coupled receptor 97 16 16 16 q21 42203376 42231241 + 56259672 56280791 + 57702157 57723290 + 1580863;6480464 14702039;15203201;15489334;15340161;12679517;12477932;12435584;222487;20424473 222487 E7EVL2;F8W8F7;H3BRU4;H3BS78;Q86Y34 AB049169;ABBA01025277;ABBA01025278;AC018552;AK172801;AK301258;AK310124;AK310311;AMYH01007704;AY140959;AY255601;BC044222;BC064508;BE672513;CH471092;NM_170776 AAH64508;AAN46673;AAO85113;BAC67700;BAD18774;BAG62824;EAW82946;NP_740746;Q86Y34 Hs.383403 1797662;2191111 GPR97_2039;MARC_14789-14790:1010672522:1 PB99;PGR26 EGF-TM7-like;G-protein coupled receptor PGR26;OTTHUMP00000164662;probable G-protein coupled receptor 97 protein-coding ENSG00000182885 13728 17073 VALIDATED 1349786 GPRASP1 G protein-coupled receptor associated sorting protein 1 This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010] X X q22.1 101792950 101800667 + 101906294 101914011 + 6480464 19237393;16344560;16049099;15772651;15489334;15452121;15086532;12477932;12142540;11274227;9455477;16169070;11597585;17197383;19615732;20468064;20394773;15342556;21030592;21791203;16969126;21078624;21718301;21900845;22483848 9737 Q5JY77 AB007903;ABBA01020959;ABBA01020960;AL035427;AMYH01022792;AW293629;AY044233;BC114552;BP193624;BX489726;BX954816;CH471190;DA094297;DA104338;DA222893;NG_021332;NM_001099410;NM_001099411;NM_001184727;NM_014710 AAI14553;AAK95578;BAA23715;EAW54730;NP_001092880;NP_001092881;NP_001171656;NP_055525;Q5JY77 Hs.729265 GASP;GASP-1;GASP1;KIAA0443 G-protein coupled receptor-associated sorting protein 1;OTTHUMP00000023717 APPROVED protein-coding ENSG00000198932 24834 02333 300417 REVIEWED 1344418 GPRC5D G protein-coupled receptor, family C, group 5, member D The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 12 12 12 p13.3 18242561 18252157 - 12984976 12994585 - 13093709 13103318 - 1580863;6480464 11311935;15489334;12477932;12044878;20424473;22591013 55507 F5GWX9;Q9NZD1 AB083629;AB099817;ABBA01067857;AC007688;AF209923;AMYH01004292;BC069341;BC107077;BC107078;CH471094;NM_018654 AAF72873;AAH69341;AAI07078;AAI07079;BAB89342;BAC79169;EAW96294;NP_061124;Q9NZD1 Hs.644599 2157197 STS-H01056 MGC129713;MGC129714 G-protein coupled receptor family C group 5 member D;OTTHUMP00000239232;orphan G-protein coupled receptor APPROVED protein-coding ENSG00000111291 13310 07604 607437 REVIEWED 1603705 GPRC5A G protein-coupled receptor, family C, group 5, member A This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008] 12 12 p13-p12.3 12935223 12957867 + 13043956 13066600 + 6480464 9857033;18029348;18000218;17055459;16565220;15951569;15659406;15489334;14706456;14702039;12477932;10945465;10783259;8832110;20563252;19279407;19552806;22939629;18781797;20360068;21987572;21139048;21890473;21906983;21963094;23000965;23154545 9052 F5GWG3;H0YFN2;Q8NFJ5 ABBA01067856;ABBA01067857;AC007688;AF095448;AF506289;AI587426;AK001761;AK122672;AK172760;AK291171;AMYH01004292;BC003665;CH471094;NM_003979 AAC98506;AAH03665;AAM77594;BAA91890;BAF83860;BAG53657;EAW96289;NP_003970;Q8NFJ5 Hs.631733 1680473;2182370 D12S2123;RH99002 GPCR5A;RAI3;RAIG1 G-protein coupled receptor family C group 5 member A;OTTHUMP00000239229;RAIG-1;orphan G-protein-coupling receptor PEIG-1;retinoic acid induced 3;retinoic acid responsive;retinoic acid-induced gene 1 protein;retinoic acid-induced protein 3 APPROVED protein-coding 9836 16037 604138 REVIEWED 1604710 GPRIN3 GPRIN family member 3 4 4 4 q22.1 87461582 87525350 - 90384452 90448184 - 90165429 90229161 - 6480464 15488195;14702039;12477932;22833210 285513 A0AVI5;Q6ZVF9 AB095947;ABBA01063565;AC093862;AC105388;AK091461;AK124616;AMYH01014388;BC126371;CH471057;NM_198281 AAI26372;ADR83257;BAC23123;BAC85902;EAX06032;EAX06033;NP_938022;Q6ZVF9 Hs.605082 1725005 RH118798 FLJ42625;GRIN3 G protein-regulated inducer of neurite outgrowth 3;OTTHUMP00000219635 protein-coding ENSG00000185477 27733 14159 611241 VALIDATED 1319887 GPRC5B G protein-coupled receptor, family C, group 5, member B The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. [provided by RefSeq, Jul 2008] 16 16 16 p12 19019238 19045130 - 19777794 19803652 - 19870293 19896151 - 6480464 16303743;15489334;14702039;12477932;10945465;10783259;10493829;18029348;20424473;20935630;21890473;21988832;23251661 51704 B7Z831;H3BN33;H3BQV9;H3BSJ1;H3BT47;H3BT93;Q9NZH0 ABBA01028269;AC004131;AC134300;AF181862;AF202640;AJ276101;AK075119;AK294680;AK295204;AK296754;AK302838;AK315989;AL137684;AMYH01007324;AMYH01007325;BC034467;CH471186;NM_016235 AAC27544;AAF05331;AAF67321;AAH34467;ABM81777;ABM84932;BAC11414;BAH11846;BAH12012;BAH12426;BAH13817;BAH14360;CAC00632;EAW50302;EAW50303;EAW50304;EAW50305;NP_057319;Q9NZH0 Hs.148685 1677590;1679041;1736600;1739747;2135808;2138820;2165532 A002I06;D16S2597E;D16S3003E;RH64900;RH64917;RH78263;SHGC-30161 RAIG-2;RAIG2 A-69G12.1;G protein-coupled receptor, family C, group 1, member B;G-protein coupled receptor family C group 5 member B;OTTHUMP00000162164;retinoic acid responsive gene protein;retinoic acid-induced gene 2 protein APPROVED protein-coding ENSG00000167191 13308 16177 605948 REVIEWED 1606183 GPRIN1 G protein regulated inducer of neurite outgrowth 1 5 5 5 q35.2 172463735 172478055 + 175955409 175969737 - 176022803 176037131 - 6480464 15489334;15488195;15302935;12477932;11572484;10480904 114787 Q7Z2K8 AB067480;ABBA01033486;ABBA01033487;ABBA01033488;ABBA01033489;AC091934;AL834165;AMYH01015862;BC052950;CH471195;NM_052899 AAH52950;BAB67786;CAD38868;EAW85065;NP_443131;Q7Z2K8 Hs.150549 1776086;2168097;2185877 RH35970;RH77998;SGC33786 GRIN1;KIAA1893 G protein-regulated inducer of neurite outgrowth 1;OTTHUMP00000161241 protein-coding ENSG00000169258 24835 11169 611239 VALIDATED 1318969 GPRIN2 G protein regulated inducer of neurite outgrowth 2 10 10 q11.22 46413552 46420574 + 46993546 47000568 + 6480464 16189514;15489334;15488195;15164054;12477932;10480904;9628581;23088713 9721 O60269 AB011086;ABBA01163966;AL356056;AL645529;AMYH01002427;BC011672;NM_014696 AAH11672;BAA25440;NP_055511;O60269 Hs.523375 5022450 D10S275 GRIN2;KIAA0514;MGC15171 G protein-regulated inducer of neurite outgrowth 2;OTTHUMP00000019519 protein-coding 23730 13804 611240 VALIDATED 1322855 GPRC5C G protein-coupled receptor, family C, group 5, member C The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25 69020312 69036199 + 69939262 69955163 + 72427667 72443568 + 1580863;6480464 10783259;14667819;16303743;15489334;14702039;12477932;11311935;10945465;8125298;21906983 55890 A8MXZ4;J3KRS9;J3KSD6;J3KTP8;J3QQN3;J9JIE0;Q9BSP0;Q9NQ84 AB451470;ABBA01028838;ABBA01028839;AC079325;AF207989;AJ276102;AK000249;AK075397;AK126429;AK131210;AK222909;AMYH01008623;BC004925;BC016860;BC069202;BC110848;BC125080;BC125081;BT007435;CH471099;CS051199;NM_018653;NM_022036 AAF72870;AAH04925;AAH16860;AAI10849;AAI25081;AAI25082;AAP36103;ABM82557;ABM85747;BAA91030;BAC11595;BAG54752;BAG70284;CAC00633;CAI72095;EAW89160;EAW89161;EAW89162;EAW89163;EAW89164;NP_061123;NP_071319;Q9NQ84 Hs.446438 1853437;2134829;2191591 D14S1335;MARC_26756-26757:1034172943:1;RH12385 MGC131820;RAIG-3;RAIG3 G-protein coupled receptor family C group 5 member C;OTTHUMP00000070880;OTTHUMP00000070881;orphan G-protein coupled receptor;retinoic acid responsive gene protein;retinoic acid-induced gene 3 protein APPROVED protein-coding 13309 16178 605949 REVIEWED 1317604 GPS2 G protein pathway suppressor 2 This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008] 17 17 p13 7156702 7159382 - 7215978 7218658 - 1302232;1580863;6480464 8943324 16189514;18218630;17895379;16169070;16122992;15489334;15159402;14702039;12628926;12477932;11931768;11486030;11347906;11230166;11119584;10846067;9325311;14527417;17353931;19481530;19858209;19917673;20159957;17210713;16712523;17242407;21240272;21081666;21906983;22190034;22190037;23221346 2874 B4DXA1;I3L1H4;I3L242;I3L3Y9;I3L4X7;Q13227 ABBA01054860;AC026954;AK301877;AMYH01008078;BC013652;BC014192;BC103901;BC103902;BC103903;BC107738;BT006998;CR541723;CR541750;NM_004489;U28963 AAB60432;AAH13652;AAI03902;AAI03903;AAI03904;AAI07739;AAP35644;BAG63313;CAG46524;CAG46550;NP_004480;Q13227 Hs.438219 1652841;2182995 RH78284;STS-T79836 AMF-1;MGC104294;MGC119287;MGC119288;MGC119289 G protein pathway suppressor 2;GPS-2;OTTHUMP00000128385;OTTHUMP00000163158 APPROVED protein-coding ENSG00000132522 4550 11878 601935 REVIEWED 1351498 GPSM2 G-protein signaling modulator 2 The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82).[provided by RefSeq, Jan 2011] 1 1 p13.3 109221350 109274546 + 109419603 109473044 + 631949;1580863;6480464;7240710 11832491 15537540;8973305;16458856;15632202;15489334;12925752;12748287;12477932;11781568;18029348;20056645;20508983;20479129;20589935;20602914;20933426;19888295;21348867;17289029;19596686;22074847;21906983;22578326;22977735;21963094;22987632;22690686 29899 B0QZC9;B0QZD0;H0Y4A4;P81274;Q5T1N9 AB445462;ABBA01068356;ABBA01068357;AI224972;AK295563;AK314249;AL449266;AMYH01000927;AMYH01000928;AY136740;BC027732;CH471122;CR456786;DC341689;NG_028108;NM_013296;U54999 AAB40385;AAH27732;AAN01266;ABM82955;ABM85856;BAG36915;BAG58463;BAH84760;CAG33067;EAW56340;EAW56341;EAW56342;EAW56343;EAW56344;NP_037428;P81274 Hs.584901;Hs.658489 1681470;1683910;1774998;2109367;2177687;5014003;5015869;5015961;5024516;5109281 D13S1568;D15S1477;D17S1136;D1S1425;GDB:313261;GPSM2_9599;RH71239;RH98217;SHGC-37685;SHGC-75299 CMCS;DFNB82;LGN;Pins G-protein signaling modulator 2 (AGS3-like, C. elegans);G-protein signalling modulator 2 (AGS3-like, C. elegans);G-protein-signaling modulator 2;OTTHUMP00000013436;deafness, autosomal recessive 82;mosaic protein LGN APPROVED protein-coding ENSG00000121957 29501 06609 604213;609245 REVIEWED 737005 GPX1 glutathione peroxidase 1 This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidase functions in the detoxification of hydrogen peroxide, and is one of the most important antioxidant enzymes in humans. This protein is one of only a few proteins known in higher vertebrates to contain selenocysteine, which occurs at the active site of glutathione peroxidase and is coded by UGA, that normally functions as a translation termination codon. In addition, this protein is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (ALA) repeats in this sequence. The allele with five ALA repeats is significantly associated with breast cancer risk. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.3 49369613 49370795 - 49394609 49395791 - 1600704;1600708;1600662;1600671;1600677;1625122;1580863;1300048;1302578;2306609;2306608;2306610;2306611;2306161;2306607;2306624;2306606;2306616;2306612;6480464;6907045;7240570;7240710;7240571 17198913;16338763;14573732;5766310;12655278;12824952;12429206;17609286;17825092;17420349;16844917;15039483;18387670;15791111;19229592;18940188;15331559;22046528;18758054 21165435;22167619;21936966;22072582;22683538;12893824;12829378;8428933;12751788;17097614;12221075;16132718;16945136;12810669;19573080;19505917;19428448;19428376;19424819;19423521;19415410;19347979;19285650;19254950;19228881;19195803;19195504;19161995;19125369;19124506;19056482;19035188;19026164;19012493;18977241;18853169;18806750;18676680;18600213;18563616;18541588;18541150;18483336;18469277;18449862;18417962;18298806;18267129;18186040;17850515;17693525;17634480;17625244;17601350;17548672;17526193;17334644;17275003;17171548;17149600;17052796;16979635;16956821;16868544;16797832;16627788;16615267;16614101;16543247;16538174;16523188;16424062;16413612;16354666;16287877;16230136;15990458;15946795;15878749;15829318;15774926;15489334;15318035;15298967;15295091;15247771;15203190;15192016;15167446;15149466;15125229;14962975;14962293;14744747;14671197;12893830;12832449;12787913;12732844;12531513;12496980;12477932;12470500;12447480;11823528;11368344;11112379;11103801;10880344;10833429;10652368;10220143;9605859;9501919;9126277;8125298;8001233;3697069;3658677;2976939;2955287;2307470;1556108;16871233;15910762;20219985;20303587;19913121;20301895;20530237;20628086;20643115;20644561;20724907;19170196;19488773;19527700;19560448;19578796;19625176;19692168;19705749;19733578;19773279;19819955;19826042;19896490;19929244;19944066;19946932;20041472;20082261;20097730;20109103;20178852;20200426;20306294;20307617;20378690;20441054;20444272;20477822;20480816;20727719;20802378;20813000;20851292;20852007;20877264;20877624;20878976;21045266;21048031;21052528;21053180;21055077;21102463;20578157;19951064;20471990;21434422;22677746;22951908;22699881;23518201;19949914;21586620;21842217;21087145;22863883;21989715;21852236;21900206;21921984;21292323;21993316;22888637;22259188;21636625;21185702;22180033;23152058;22790458;22843889;23073788;22561328;23010849;23063346;23261989;22704671;23289525;21904836;23128233;22890915;22645453;17336361;22036626;22448134;22556393;22952184 2876 P07203;Q7L4Q3 ABBA01024594;AC121247;AK130160;AK225835;AMYH01013156;AY327818;BC000742;BC007865;BC070258;CH471055;M21304;M83094;NG_012264;NM_000581;NM_201397;X13709;X13710;Y00433;Y00483 AAA67540;AAA75389;AAH00742;AAH07865;AAH70258;AAP80181;CAA31992;CAA31993;CAA68491;CAB37833;EAW64976;EAW64977;NP_000572;NP_958799;P07203 Hs.76686 1657441;1683595;1722513;1730133;1741423;1741439;1768363;2173897;5014611;5110985;5111345 A004T30;D21S1961;D3S1330E;G34714;G60181;GDB:181197;GDB:181211;RH45222;RH91501;SHGC-76946;WI-18922 GPXD;GSHPX1;MGC14399;MGC88245 GPx-1;GSHPx-1;OTTHUMP00000210765;OTTHUMP00000210766;cellular glutathione peroxidase;glutathione peroxidase 1 APPROVED protein-coding ENSG00000233276 4553 11749 138320;614164 REVIEWED 1352560 GPX1P1 glutathione peroxidase pseudogene 1 X X p22.2 13306544 13307419 - 13396654 13397506 - 2883;441481 AC135371;AMYH01022095;NG_012792 1741439 GDB:181211 GPXL1;GPXL2;GPXP1 APPROVED pseudo 4560 INFERRED 1348855 GPSM1 G-protein signaling modulator 1 G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 q34.3 138348726 138372493 + 139221932 139254057 + 1304224;1580863;6480464 10969064 18566450;17991770;16458856;16189514;15537540;15489334;14530282;12925752;12642577;12477932;11278352;11024022;12826607;21145461;20065032;20126274;20237496;20716524;21209316;20305814;20700046;11832491;14684460;14994339;20488951;23718855;18029348;21890473;21906983 26086 Q86YR5 ABBA01022705;AC174065;AL117478;AL545250;AL592301;AMYH01021860;AMYH01021861;AY173053;BC009943;BC009979;BC017257;BC017353;BC048343;BI766024;BQ214873;BU631041;BX649589;CH471090;NG_028088;NM_001145638;NM_001145639;NM_001200003;NM_015597 AAH09979;AAH17353;AAH48343;AAO17260;CAB55951;EAW88216;EAW88217;EAW88218;NP_001139110;NP_001139111;NP_001186932;NP_056412;Q86YR5 Hs.239370 1787024 SHGC-149982 AGS3;DKFZp727I051 1810037C22Rik;AGS3 homolog;G-protein signaling modulator 1 (AGS3-like, C. elegans);G-protein signalling modulator 1 (AGS3-like, C. elegans);G-protein-signaling modulator 1;OTTHUMP00000022584;OTTHUMP00000022585;OTTHUMP00000022586;OTTHUMP00000161525;activator of G-protein signaling 3 APPROVED protein-coding ENSG00000160360 17858 17075 609491 REVIEWED 1343113 GPX1P2 glutathione peroxidase pseudogene 2 21 21 21 q21.3 13698689 13699563 - 27437340 27438252 - 28515442 28516318 - 10830953;1487153 2884 ABBA01057226;AMYH01012180;AP001603;M93083;NG_001134 GPXL1;GPXL2;GPXP2;GPXP2P APPROVED pseudo 4561 INFERRED 1313502 GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 This gene encodes one of the two pyridoxal enzymes which catalyze a reversible transamination reaction to yield glutamate and pyruvate so these enzymes participate in amino acid metabolism and gluconeogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 16 16 16 q12.1 31426465 31473333 + 45475809 45522699 + 46918308 46965201 + 1580863;6480464;6907045 21145461;19360321;17596883;17109502;16344560;15616553;15489334;14702039;12477932;11863375;19615732;20877624;21832049 84706 H3BU54;Q8TD30 ABBA01013764;AC007225;AC018845;AI990701;AK090957;AK094971;AL833351;AMYH01007642;AY029173;BC051364;BC062555;CH471092;DA400677;NM_001142466;NM_133443 AAH62555;AAK31794;BAC04465;BAG52252;EAW82690;EAW82691;EAW82692;NP_001135938;NP_597700;Q8TD30 Hs.460693 1710294;1778597;2107183;2142633 D16S3350;GPT2__7546;SHGC-31859;SHGC-85253 ALT2 GPT 2;OTTHUMP00000163363;alanine aminotransferase 2;glutamate pyruvate transaminase 2;glutamic--alanine transaminase 2;glutamic--pyruvic transaminase 2;glutamic-pyruvate transaminase 2 APPROVED protein-coding ENSG00000166123 18062 06307 138210 VALIDATED 1343729 GPSM3 G-protein signaling modulator 3 6 6 6 p21.3 33725587 33730344 - 32266521 32271278 - 32158543 32163300 - 1580863;6480464 2259622;14667819;15489334;15096500;14656218;14574404;12477932;17207965;19659809;19851445;19913121;20628086;20452976;16344560;22167191;22843681;12202484;23042114;23251661 63940 E9PIE9;E9PIP3;Q9Y4H4 ABBA01038108;AF155657;AJ243937;AJ243938;AK313922;AL662830;AL662884;AL845464;AMYH01016235;BC018724;BX284686;BX927239;CH471081;CR812478;CR933878;DA979033;NM_001276501;NM_022107;U89335;U89336 AAB47489;AAC63096;AAF67476;AAH18724;ADQ32457;BAG36643;CAB51287;CAB51288;CAB51289;EAX03617;EAX03620;EAX03623;NP_001263430;NP_071390;Q9Y4H4 Hs.520046 1672022;1778456;1792292;2115023 PMC140667P2;RH46756;WI-12121;WI-14626 AGS4;C6orf9;G18;G18.1a;G18.1b;G18.2;NG1 G-protein signaling modulator 3 (AGS3-like, C. elegans);G-protein signalling modulator 3 (AGS3-like, C. elegans);G-protein-signaling modulator 3;OTTHUMP00000029351;activator of G-protein signaling 4 APPROVED protein-coding ENSG00000213654 13945 13605 VALIDATED 732073 GPS1 G protein pathway suppressor 1 This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 76604358 76609594 + 77603052 77608635 + 80009763 80015346 + 1580863;6480464 8943324;17353931;16964243;15489334;15304329;14702039;12732143;12628923;12477932;12324474;12220626;11337588;11285227;11114242;9535219;8125298;9707402;12615944;10903862;17276034;17337451;18606781;21145461;16045761;16036220;16169070;16949367;19615732;18850735;19141280;23275442;22863883;22939629;23022380;21604193;20399188;16916636;17079684;21169563;22103747;22767593;22414063;19444310;20360068;21139048;21890473;21903422;21906983;21963094;16260596;22053931;23000965;23408908;16624822;19295130;22190034;22505724 2873 C9JFE4;J3KRE8;J3KRJ4;J3KRY5;J3KSA5;J3KSY1;J3KTB0;J3QL53;J3QLE8;J3QLT0;J3QQP2;J3QQX0;J3QS84;J3QS88;Q13098 AB209596;ABBA01019661;AC135056;AK026610;AK093283;AK222508;AK225248;AK289435;AK297872;AMYH01008728;BC000155;BC064503;BG775520;BT009834;CH471099;NM_004127;NM_212492;U20285 AAC50906;AAH00155;AAH64503;AAP88836;ACE86882;ACE87569;ADR83311;BAC04120;BAD92833;BAF82124;BAG60198;EAW89741;EAW89742;NP_004118;NP_997657;Q13098 Hs.268530 1680543;5024541 D1S3688;RH98836 COPS1;CSN1;MGC71287 COP9 signalosome complex subunit 1;COP9 signalosome subunit 1;GPS-1;JAB1-containing signalosome subunit 1;SGN1;signalosome subunit 1 APPROVED protein-coding ENSG00000169727 4549 15991 601934 REVIEWED 734191 GPT glutamic-pyruvate transaminase (alanine aminotransferase) This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009] 8 8 q24.3 145700231 145703357 + 145729465 145732555 + 1580863;1300048;6480464;6907045 22389715;9119391;1931970;19393479;19370784;19360321;19217453;19100265;19065605;19012630;18774966;18763311;18708042;18508279;18473412;18432999;18315552;18242760;18178283;18090161;17934148;17907318;17907292;17766001;17764776;17570354;17405346;17378732;17134955;16652026;15489334;15342556;15306699;14506613;12774006;12480555;12477932;12358155;11863375;8125298;5581908;20205615;20433554;21199427;17877759;19159884;19232448;19303161;19687577;19938201;20032584;20190678;20387481;3192219;49232;7114790;7114791;7361762;20872970;20972737;20961180;21040936;21720553;21692932;22132177;22140488;22158663;22293393;21987480;21715038;22177542;22242166;22357454;22352690;21988832;23119080;22975640;23384374;22954960 2875 P24298 ABBA01005200;AC084125;AI283141;AK225562;AK298488;AK303779;AMYH01019155;BC018207;BP275218;BT006992;CH471162;D10355;EF444981;HB901540;HC958949;NG_015828;NM_005309;U70732 AAC51155;AAH18207;AAP35638;ABM84690;ABM92213;ACA05996;BAA01186;BAG60697;BAG64738;CBF80470;CBU99504;EAW82077;EAW82078;EAW82079;NP_005300;P24298 Hs.103502 1337478;1681825 D11S1356;RH80745 AAT1;ALT1;GPT1 GPT 1;OTTHUMP00000228783;alanine aminotransferase 1;glutamate pyruvate transaminase 1;glutamic--alanine transaminase 1;glutamic--pyruvic transaminase 1;glutamic-alanine transaminase 1 APPROVED protein-coding ENSG00000167701 4552 00689 138200 REVIEWED 1352844 GPX5 glutathione peroxidase 5 (epididymal androgen-related protein) This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike mRNAs for other characterized glutathione peroxidases, this mRNA does not contain a selenocysteine (UGA) codon. Thus, the encoded protein is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2008] 6 6 p22.1 28601768 28609923 + 28493789 28502728 + 1580863;6480464;6907045 9639555;16344560;14702039;14574404;12477932;12211066;11368344;11076863;10652368;9783843;9501919;9110319;1386734;15910762;19913121;20628086;20200426 2880 O75715 ABBA01038021;AJ005277;AK093099;AL049543;AMYH01016190;AY882013;BC128159;BC128160;BX103177;CH471081;DB336279;NM_001509;NM_003996 AAI11376;AAI28160;AAI28161;AAW56939;BAG52653;CAA06463;EAX03168;EAX03169;NP_001500;NP_003987;O75715 Hs.248129 1748271;1748273 G66704;G66705 EGLP;GPx-5;GSHPx-5;OTTHUMP00000017919;OTTHUMP00000214636;epididymal androgen-related protein;epididymal secretory glutathione peroxidase;epididymis-specific glutathione peroxidase-like protein APPROVED protein-coding ENSG00000224586 4557 11941 603435 REVIEWED 735998 GPX6 glutathione peroxidase 6 (olfactory) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Expression of this gene is restricted to embryos and adult olfactory epithelium. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30077501 30089997 - 28579052 28591549 - 28471073 28483570 - 1580863;6480464;6907045 10652368;12775843;11368344;9501919;15910762;19913121;20628086;12477932;20200426 257202 E7ERK5;P59796 ABBA01038020;AL049543;AMYH01016190;AY324826;BC133691;BC148315;CH471081;NM_182701;Z98745 AAI33692;AAP85543;ABM81789;EAX03167;NP_874360;P59796 Hs.448570 1797666;2189649;7187261 D6S2217;GPX6_2570 GPX5p;GPXP3;GPx-6;GSHPx-6;dJ1186N24;dJ1186N24.1 OTTHUMP00000042350;OTTHUMP00000216813;glutathione peroxidase 6;glutathione peroxidase pseudogene 3 APPROVED protein-coding ENSG00000198704 4558 12132 607913 REVIEWED 1347107 GPXP3 glutathione peroxidase pseudogene 3 394215 13952 1343858 GPX3 glutathione peroxidase 3 (plasma) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 5 5 q23 150380192 150388747 + 150399999 150408554 + 1580863;2312629;2312621;2312626;2312635;2307430;2312631;2312632;2312633;2312634;1625122;6480464;6907045 12753302;19426485;16049373;17269729;19212806;16651743;18936159;18562625;16489975;12824952 1897960;3693360;2491950;8056346;19375609;19161995;19020706;18676680;18483336;18096833;17937619;22461624;17804715;17122425;16937131;16229808;15489334;15375613;15096516;12732844;12674495;12553559;12477932;11983108;11934214;11368344;11149894;10970826;10652368;9501919;8287691;8262911;3619451;2229017;1339300;15910762;20303587;19913121;20485444;20576521;20628086;20712757;19170196;19573080;19625176;19692168;19766714;19773279;20043075;20200426;20813000;20946167;20725785;21684681;20730571;21933611;22508837;22981671;23071548 2878 E5RG32;E5RHK5;E5RJS2;H0YBE4;H0YC19;P22352 ABBA01026268;AC008641;AF217787;AK310242;AL036834;AMYH01015710;AY310878;BC013218;BC013601;BC025956;BC035841;BC050378;BC066949;BI522602;CH471062;D00632;D16360;D16361;D16362;NM_002084;X58295 AAF43005;AAH13601;AAH35841;AAH50378;AAH66949;AAP50261;BAA00525;BAA03862;BAA03863;BAA03864;CAA41228;EAW61692;EAW61693;NP_002075;P22352 Hs.386793 1724391;1795944;2112216;2130231;2149114;5022337 D5S2679;D5S2783;GPX3;GPX3_446;NIB1209;RH122357 GPx-P;GSHPx-3;GSHPx-P GPx-3;OTTHUMP00000224545;OTTHUMP00000224546;extracellular glutathione peroxidase;glutathione peroxidase 3;plasma glutathione peroxidase APPROVED protein-coding ENSG00000211445 4555 11750 138321 REVIEWED 1345750 GPX2 glutathione peroxidase 2 (gastrointestinal) This gene is a member of the glutathione peroxidase family and encodes a selenium-dependent glutathione peroxidase that is one of two isoenzymes responsible for the majority of the glutathione-dependent hydrogen peroxide-reducing activity in the epithelium of the gastrointestinal tract. The protein encoded by this locus contains a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] 14 14 q24.1 64475625 64479284 - 65405870 65409623 - 1580863;6480464;6907045 8428933;19161995;19047153;18676680;18483336;18479189;18056462;17937616;17277236;16794261;16446369;15923610;15489334;12751789;12674495;12477932;11811519;11373322;11368344;10806356;10652368;9501919;8833155;8287691;8125298;2388849;15910762;19913121;20628086;19170196;19573080;19625176;19692168;19773279;20200426;20813000;18029348;22758632;22683372;19884766 2877 G3V323;G3V4J6;H0YJK8;P18283 ABBA01018373;AF199441;AK225871;AL139022;AMYH01005801;AY785560;BC005277;BC016756;BC022820;BC039850;BC046164;BC067221;BF207526;BG429974;CH471061;NM_002083;NR_046320;NR_046321;X53463;X68314;X91863 AAF74026;AAH05277;AAH16756;AAH22820;AAH67221;AAV31780;CAA48394;CAB43534;EAW80889;EAW80890;EAW80891;EAW80892;NP_002074;P18283 Hs.2704 1771188;1797664;2120353 GPX2_2113;RH48489;WI-7016 GI-GPx;GPRP;GPRP-2;GPx-2;GPx-GI;GSHPX-GI;GSHPx-2 GPRP-2;GPx-2;GPx-GI;OTTHUMP00000246692;OTTHUMP00000246693;gastrointestinal glutathione peroxidase;gastrointestinal glutathione peroxidase 2;glutathione peroxidase 2;glutathione peroxidase-gastrointestinal;glutathione peroxidase-related protein 2 APPROVED protein-coding ENSG00000176153 4554 11818 138319 REVIEWED 1315932 GPX7 glutathione peroxidase 7 1 1 1 p32 51354739 51361416 + 52840632 52847310 + 53068043 53074723 + 6480464;6907045 16713569;16710414;16189514;15489334;15294905;14702039;12975309;12477932;10652368;9501919;15910762;11368344;19913121;20628086;20200426;20819778;21215271;23454490;23123197 2882 Q96SL4 ABBA01074768;AF091092;AF320068;AK027683;AL356976;AMYH01000621;AY358402;BC032788;BI550170;BU627166;CH471059;DQ096732;NM_015696 AAC72961;AAH32788;AAN76501;AAQ88768;AAY88741;ABM84944;BAB55294;EAX06777;NP_056511;Q96SL4 Hs.43728 1653890 SHGC-74832 CL683;FLJ14777;GPX6;GPx-7;GSHPx-7;NPGPx OTTHUMP00000010021;glutathione peroxidase 6;glutathione peroxidase 7;non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase protein-coding ENSG00000116157 4559 13606 VALIDATED 1322253 GRAMD1A GRAM domain containing 1A 19 19 19 q13.13 32204615 32230747 + 40183086 40209213 + 35491246 35517373 + 737633;6480464 12477932 18029348;16303743;14702039;10819331;21890473;21906983 57655 J3KR86;M0QZ12;M0R0J9;M0R0Q8;M0R3C5;Q96CP6 AB040966;ABBA01018728;AC020907;AK026064;AK074827;AK074864;AK074914;AK097215;AMYH01009722;BC014077;BC041618;NM_001136199;NM_020895 AAH14077;BAA96057;BAC11289;BAG52019;BAG53435;NP_001129671;NP_065946;Q96CP6 Hs.515351 1335220;1669818;1759413;1849959;7183692;7184013 A004D32;D19S425;D19S569;SHGC-151016 FLJ22411;FLJ90346;KIAA1533 GRAM domain-containing protein 1A protein-coding ENSG00000089351 29305 11153 VALIDATED 736049 GPX4 glutathione peroxidase 4 Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, experimental evidence for alternative splicing exists; alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. [provided by RefSeq, Jul 2008] 19 19 p13.3 1054936 1057787 + 1103936 1106787 + 1300048;1302561;1580863;6480464;6907045 12566075 9705830;8039723;19285650;19161995;19124506;18977241;18676680;18636124;18483336;18400727;17634480;17630701;17601350;17516241;17052796;17020817;16979635;16872467;16868544;16424062;16341674;15978628;15489334;15474074;15308634;15256721;15225122;15149466;15057824;14642406;12958179;12868489;12732844;12606444;12490284;12477932;12427732;12193409;12152199;11368344;10652368;10464096;9501919;8889548;8287691;8125298;15910762;20303587;19913121;20485444;20628086;20628624;19170196;19524426;19573080;19615732;19625176;19692168;19744930;19773279;20378690;20379614;20477822;20813000;20852007;20877624;21052528;22634395;21139048;21733339;21890473;21252226;21459128;21644221;22158110;21102463;21988832;23128233 2879 K7EJ20;K7EKX7;K7ENB4;K7ERP4;P36969;R4GNE4 ABBA01002621;AC004151;AC005390;AF060972;AK225859;AMYH01009224;AY324108;BC010157;BC011836;BC021567;BC022071;BC032695;BC039849;BC046163;BC058329;BM764133;BQ648717;CF127510;CH471139;NM_001039847;NM_001039848;NM_002085;X71973 AAC03239;AAC28920;AAC32261;AAH10157;AAH11836;AAH21567;AAH22071;AAH32695;AAH39849;AAH46163;AAP72965;CAA50793;EAW69543;EAW69544;EAW69545;EAW69546;NP_001034936;NP_001034937;NP_002076;P36969 Hs.433951 2162895;2176384;5491693 MARC_7967-7968:996688192:1;RH16004;STS-X71973 GPx-4;GSHPx-4;MCSP;PHGPx;snGPx;snPHGPx GPx-4;GSHPx-4;glutathione peroxidase 4;phospholipid hydroperoxidase;phospholipid hydroperoxide glutathione peroxidase, mitochondrial;sperm nucleus glutathione peroxidase APPROVED protein-coding ENSG00000167468 4556 11819 138322 REVIEWED 6481441 GRAMD4P2 GRAM domain containing 4 pseudogene 2 22 16227139 16227601 + 100873881 ABBA01141167;AMYH01012365;AP000528;NG_032336 pseudo 39654 INFERRED 1606522 GRAMD1B GRAM domain containing 1B 11 11 11 q24.1 120555834 120652938 + 122901738 122998728 + 123396528 123493518 + 6480464 18758461;12975309;12477932;12107411;10574462;20731705;20332261 57476 B3KXJ5;E7EPH8;E9PRD6;J3KNL5;Q3KR37 AB033027;ABBA01031269;ABBA01031270;ABBA01031271;AI815988;AK127457;AK297606;AK307795;AMYH01004101;AP000841;AP002765;AY358924;BC011969;BC035131;BC040970;BC063616;BC105741;BC105931;BC105932;BC107480;BQ636364;NM_020716 AAI05742;AAI05932;AAI05933;AAI07481;AAQ89283;BAA86515;BAG54507;BAH12625;NP_065767;Q3KR37 Hs.144725;Hs.732509 1334982;1338051;1339349;1681251;1691120;1736979;1738107;1847144;2123489;2139589;2173132;7190801 D11S1316;D11S2691;D11S3734;D11S4144;D11S4551;D7S611;RH79909;SGC31336;SHGC-2067;SHGC-35011;SHGC-74617 KIAA1201;MGC125622;MGC125623;MGC125625 GRAM domain-containing protein 1B;OTTHUMP00000231683;OTTHUMP00000231684;OTTHUMP00000231685 protein-coding ENSG00000023171 29214 VALIDATED 1603792 GPX8 glutathione peroxidase 8 (putative) 5 5 5 q11.2 51408830 51415975 + 54491744 54496509 + 54455984 54463129 + 6480464 18498225;14702039;12975309;12477932;17207965;21215271;21139048;21890473 493869 E7ETY7;J3KNB5;Q8TED1 ABBA01015737;AC091977;AK022110;AK074216;AK298545;AK307365;AMYH01015088;AY358715;BC029424;BX537894;BX647770;CH471123;NM_001008397 AAH29424;AAQ89077;ADQ32216;BAB85019;BAG60742;EAW54908;EAW54909;NP_001008398;Q8TED1 Hs.289044 2125206;2184026 STS-N22158;STS-N33071 EPLA847;GPx-8;GSHPx-8;UNQ847 EPLA847;GPx-8;GSHPx-8;OTTHUMP00000222385;OTTHUMP00000222386;OTTHUMP00000222387;probable glutathione peroxidase 8 protein-coding 33100 17416 VALIDATED 1606791 GRAMD1C GRAM domain containing 1C 3 3 3 q13.31 111966333 112074472 + 115040367 115148711 + 113557681 113666021 + 6480464 14702039;12975309;12477932;21906983 54762 A8KA99;B3KUR5;B4DF12;C9J7B8;C9K0V2;E9PHT3;F8WCA8;Q8IYS0 ABBA01061641;ABBA01061642;ABBA01061643;ABBA01061644;ABBA01061645;ABBA01061646;AC079944;AC128687;AK093181;AK097783;AK292846;AK292964;AK293884;AK304142;AL133661;AMYH01013398;AY358725;BC028972;BC035040;BX648633;CH471052;CV575069;DC416411;NM_001172105;NM_017577 AAH28972;AAH35040;AAQ89087;BAF85535;BAF85653;BAG52669;BAG53527;BAG57273;BAH14115;CAB63774;CAH10770;EAW79621;EAW79622;EAW79623;EAW79624;NP_001165576;NP_060047;Q8IYS0 Hs.24583 1645066;1678137;1684806;1687097;1693758;1701034;1765079;2113638 A009J19;RH104144;RH79691;RH93691;RH93860;SHGC-148612;SHGC-58831;UniSTS:478961 DKFZp434C0328;DKFZp686K06117;FLJ35862;FLJ40464 GRAM domain-containing protein 1C;OTTHUMP00000214929;OTTHUMP00000214931;OTTHUMP00000214932;OTTHUMP00000214933 protein-coding ENSG00000178075 25252 VALIDATED 1604385 GRAMD4 GRAM domain containing 4 GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] 22 22 22 q13.31 30928417 30991380 + 45401322 45454352 + 47022658 47075688 + 6480464 15565177;15461802;12477932;11937641;9872452;20379614;16600870;21832049;21127500;21890473 23151 H0Y5A3;Q6IC98 AB018310;ABBA01010460;ABBA01010461;AI399959;AL021392;AL096766;AL137628;AMYH01012860;AMYH01012861;BC011984;BC063558;BC080189;BC129837;CH471138;CR456470;HI573874;NM_015124;R39786 AAH80189;AAI29838;BAA34487;CAG30356;CBX47426;EAW73432;EAW73433;EAW73434;EAW73435;EAW73436;EAW73437;NP_055939;Q6IC98 Hs.475150 1686466;1694534;1847856;2138967;2138969 A005V42;AL031649;G20543;G43099;RH15769 DIP;KIAA0767;MGC149847;MGC90497;dA59H18.1;dJ439F8.1 GRAM domain-containing protein 4;OTTHUMP00000197288;death-inducing protein;death-inducing-protein APPROVED protein-coding ENSG00000075240 29113 11107 613691 VALIDATED 1605266 GRAMD2 GRAM domain containing 2 15 15 15 q23 49338482 49376472 - 70239202 70277180 - 72452147 72490136 - 6480464 16344560;14702039;12477932;8889548;23319000 196996 H3BTA1;H3BTF7;H3BTY3;H3BUI8;Q8IUY3 ABBA01038734;ABBA01038735;AC020779;AK002016;AK095072;AK096501;AK303724;AMYH01006759;AMYH01006760;BC008057;BC024783;BC038451;BM663624;CH471082;DA854662;NM_001012642 AAH38451;AAI60185;BAG52980;BAG64700;EAW77882;EAW77883;NP_001012660;Q8IUY3 Hs.596332;Hs.706272 1651359;1709162;1767423;2133199;2155989;2169495;2177985 D15S1300;RH48501;RH66304;RH67936;SHGC-85743;STS-H64591;T03512 GRAM domain-containing protein 2 protein-coding ENSG00000175318 27287 13161 VALIDATED 1604604 GRAMD3 GRAM domain containing 3 5 5 5 q23.2 121652415 121786450 + 125787000 125857955 + 125695788 125829853 + 6480464 17081983;15489334;14702039;12477932;8125298;17207965;20379614;21441570;19322201;20125193 65983 B7Z4W8;D6R9P9;D6REP5;D6RFH3;E9PD09;F5H6Z9;Q96HH9 ABBA01068905;ABBA01068906;AC008546;AC093535;AK024966;AK225829;AK293307;AK294656;AK296267;AK298009;AK298349;AK300154;AK303857;AK316288;AL157454;AL583910;AMYH01015600;AY116970;BC008590;CH471086;DC371647;DC413835;DC424558;NM_001146319;NM_001146320;NM_001146321;NM_001146322;NM_023927 AAH08590;AAM77213;ADQ32738;BAB15045;BAH11488;BAH11836;BAH12297;BAH12704;BAH12763;BAH13224;BAH14068;BAH14659;CAC29494;EAW48852;EAW48853;EAW48854;EAW48855;NP_001139791;NP_001139792;NP_001139793;NP_001139794;NP_076416;Q96HH9 Hs.363558 1668160;1709704;1717931;1856736;2136310;2149769;2219202 NS3TP2__6075;RH122792;RH46947;RH68860;RH69733;SHGC-86340;WI-13609 FLJ21313;NS3TP2 GRAM domain-containing protein 3;HCV NS3-transactivated protein 2;OTTHUMP00000159190;OTTHUMP00000223032;OTTHUMP00000223033;OTTHUMP00000223036;OTTHUMP00000223037;hepatitis C virus nonstructural protein 3-transactivating protein 2 protein-coding ENSG00000155324 24911 11402 VALIDATED 1353606 GRAP GRB2-related adaptor protein This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012] 17 17 p11.2 18864715 18891061 - 18923990 18950336 - 1580863;6480464 8647802;18295596;15489334;15174222;12819203;12491092;12477932;11741599;9489702;9484780;8995379;10391903;12186560;19836472 10750 A8MW78;I3L2P9;J3QRP9;Q13588 ABBA01013330;ABBA01195256;AC003957;AC007952;AMYH01008188;AMYH01008189;AMYH01008190;AMYH01008191;AMYH01008192;AMYH01008193;BC035856;BC063035;BQ056077;BT019981;CR541941;CR541966;NM_006613;U52518 AAC50541;AAH35856;AAH63035;AAV38784;CAG46739;CAG46764;NP_006604;Q13588 Hs.567416 2110439;2131810;2191673 AF021121;GRAP_9174;MARC_4617-4618:966894528:1 MGC64880 GRB2-related adapter protein;OTTHUMP00000065765;OTTHUMP00000065766;growth factor receptor-bound protein 2-related adaptor protein APPROVED protein-coding 4562 05062 604330 REVIEWED 3255320 GRAPL GRB2-related adaptor protein-like 17 17 p11.2 18971464 18983108 + 19030782 19062148 + 12477932 400581 I3L2E9;K7EIX7;K7EKU7;K7ELI1;Q8TC17 ABBA01118389;AC007952;AMYH01008214;AMYH01008215;AMYH01008216;AMYH01008217;BC026233;BC060883;BC157869;NM_001129778 AAH26233;AAI57870;NP_001123250;Q8TC17 Hs.661470;Hs.677674 2131810;2152729;5107504;5127550 AF021121;AF021129;RH68044;SHGC-59928 GRB2-related adapter protein LOC400581;GRB2-related adapter protein-like protein-coding 37240 PROVISIONAL 1316895 GRAP2 GRB2-related adaptor protein 2 This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008] 22 22 q13.2 38627032 38697330 + 40297086 40367384 + 1580863;6480464;6907045 18295596;10811803;9878555;12359715;11048639;11607830;17652306;18029348;19027225;17235283;16818765;16730941;16189514;15489334;15461802;15144186;15063762;12917638;12554803;12522270;12496419;12487779;12477932;12084069;12062812;11997510;11741599;11641407;11313918;10820259;10224278;10209041;10021361;9872323;9857184;15696170;10801854;10591208;12176364;12773374;15100220;19817957;20079431;20237496;20379614;21179510;20159979;19850743;22267732 9402 B1AH86;B7Z8E3;B7Z8I3;F5H1V3;F5H548;O75791;Q6FI14 ABBA01055585;ABBA01055586;AF042380;AF090456;AF102694;AF121002;AF129476;AF236119;AF236120;AJ011736;AK303280;AK303332;AK303470;AK303512;AK303657;AK312830;AMYH01012784;AY069959;BC025692;BC026002;CH471095;CR456498;CR536524;CR541849;NM_004810;Y18051;Z82206 AAC69273;AAD04926;AAD13027;AAD41782;AAF31758;AAF60319;AAF60320;AAH25692;AAH26002;AAL58573;ABM84070;ABM87430;BAG35685;BAH13929;BAH13944;BAH13969;BAH13978;BAH14008;CAA09757;CAA77021;CAG30384;CAG38761;CAG46647;CAK54526;CAK54825;EAW60356;EAW60357;EAW60358;EAW60359;EAW60360;EAW60361;NP_004801;O75791 Hs.517499 1336070;1747531;1750207;1769236;2164149 A008B01;D22S284;G65389;SHGC-112304;SHGC-52589 GADS;GRAP-2;GRB2L;GRBLG;GRID;GRPL;GrbX;Grf40;Mona;P38 GRB-2-like protein;GRB2-related adapter protein 2;GRB2-related protein with insert domain;OTTHUMP00000199126;OTTHUMP00000199127;SH3-SH2-SH3 adapter Mona;SH3-SH2-SH3 adaptor molecule;adapter protein GRID;grf-40;grf40 adapter protein;growth factor receptor-binding protein;growth factor receptor-bound protein 2-related adaptor protein 2;hematopoietic cell-associated adapter protein GrpL;hematopoietic cell-associated adaptor protein GRPL APPROVED protein-coding 4563 05156 604518 REVIEWED 733545 GRASP GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012] 12 12 12 q13.13 51203041 51211963 + 50687015 50695938 + 52400748 52409671 + 1580863;6480464 17396155;15489334;12586822;12477932;11850456;10828067;9828130;22523075;20016009;22931251;23441967 160622 F8VRX5;Q7Z6J2 ABBA01031622;ABBA01031623;AC025259;AJ227899;AMYH01004471;BC035500;BC052967;BC053666;CH471111;HC025810;HY035281;HY052304;NM_001271856;NM_181711 AAH35500;AAH52967;AAH53666;CBH19836;EAW58220;EAW58221;NP_001258785;NP_859062;Q7Z6J2 Hs.407202 1650198;1747997 G64229;STS-AA024848 TAMALIN GRP1-associated scaffold protein;OTTHUMP00000241631;general receptor for phosphoinositides 1-associated scaffold protein;grp1 (general receptor for phosphoinositides)-associated scaffold protein protein-coding ENSG00000161835 18707 17077 612027 REVIEWED 1602534 GRASPOS GRP1-associated scaffold protein opposite strand 12q 12477932 692159 BC028005 Hs.621295 protein-coding 32680 732013 GRB14 growth factor receptor-bound protein 14 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Transcript variants have been reported for this gene, but their full-length natures have not been determined to date. [provided by RefSeq, Jul 2008] 2 2 q22-q24 165057569 165186606 - 165349323 165478360 - 1625124;1580863;61620;6480464;6484113 17347799;9748281 8647858;16849634;16246733;15489334;15372466;15322292;15210700;12477932;12242277;11726652;11607834;11278563;11235915;10713090;10521483;8812444;21572416;20339536;12853971;16582879;19268276;19359342;19648926;20379614;20935629;20932831;22948154;22581228;21874001;21988832;23190452;22158039;23457408 2888 B7Z7F9;C9JD37;C9JLT6;Q14449 ABBA01004908;ABBA01004909;ABBA01004910;ABBA01004911;AC107075;AC110086;AK301961;AK302129;AK307744;AK309590;AK313153;AMYH01011223;AMYH01011224;BC053559;CH471058;L76687;NM_004490 AAC15861;AAH53559;AAY14768;AAY24176;ACE86896;BAG35971;BAH13595;BAH13632;EAX11342;EAX11343;NP_004481;Q14449 Hs.411881 1649754;1686498;1749367;5017775;5095978 GRB14;RH27221;RH69060;SHGC-111120;WI-11831 GRB14 adapter protein;OTTHUMP00000163009;OTTHUMP00000204702;growth factor receptor bound protein 14;growth factor receptor-bound protein 14 2314777 GLUCO106_H APPROVED protein-coding ENSG00000115290 4565 03313 601524 REVIEWED 1352618 GRB10 growth factor receptor-bound protein 10 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] 7 7 p12.2 50625259 50828652 - 50657760 50861159 - 1625124;1580863;6480464;6484113 17347799 9006901;15664450;8798570;17474147;17846126;17376403;16964243;16644667;16434550;16344560;15952796;15870923;15722337;15506681;15489334;15060076;14702039;12853948;12771153;12697834;12551896;12493740;12477932;11812778;11809791;11527390;11494124;10871840;10861285;10856193;10585452;10454568;9881709;9847074;9753425;9747873;9632636;9553107;9506989;9360986;9070953;9039502;8798417;8764099;8621530;8403458;7665556;7479769;1633648;8776723;12421765;10446181;11223174;11551902;12853971;19487367;19648926;20174874;21659604;12783867;21832049;22939629;19165858;21900206;21779181;22581228;19322201;22679513;21565611;22504420;23190452;23512250 2887 C9JTW6;H7C3B9;Q92606 AACC02000075;AB000731;ABBA01011801;ABBA01011802;AC004920;AC005153;AC007089;AC080092;AF000017;AF000018;AF001534;AF073363;AF073364;AF073365;AF073366;AF073367;AF073368;AF073369;AF073370;AF073371;AF073372;AF073373;AF073374;AF073375;AF073376;AF073377;AF073378;AI360831;AJ271366;AK021643;AK289511;AMYH01017245;BC024285;BQ006601;BU598359;BX649028;CH236955;CH471128;CX757289;D86962;DA634556;HC025764;NG_012305;NM_001001549;NM_001001550;NM_001001555;NM_005311;U34355;U66065;U69276 AAA88819;AAB08431;AAB81134;AAC19748;AAC19749;AAC50671;AAC83654;AAC83655;AAH24285;AAS00377;AAS07426;ABM82626;ABM87845;BAA13198;BAF76353;BAF82200;CAB96542;CBH19814;EAL23897;EAW60964;EAW60965;EAW60966;EAW60967;EAW60968;NP_001001549;NP_001001550;NP_001001555;NP_005302;Q13322 Hs.164060 1656963;1662410;1664303;1671506;1687199;1705112;1735678;1788280;2109369;2139138;2142472;2142830;2146031;2159921;2171679;5017937 D7S2137E;D7S3125;GDB:1317480;GDB:4585083;GDB:4585598;GDB:6028674;GRB10_964;MARC_51491-51492:1152645911:1;RH11858;RH25419;RH65056;SHGC-23058;SHGC-52576;SHGC-79976;WI-14569;WI-18551 GRB-IR;Grb-10;IRBP;KIAA0207;MEG1;RSS GRB10 adapter protein;GRB10 adaptor protein;OTTHUMP00000197988;OTTHUMP00000197989;OTTHUMP00000197990;OTTHUMP00000197991;OTTHUMP00000197992;OTTHUMP00000197993;OTTHUMP00000197994;growth factor receptor-bound protein 10;insulin receptor-binding protein Grb-IR;maternally expressed gene 1 APPROVED protein-coding ENSG00000106070 4564 03312 601523 REVIEWED 1605705 GREB1 growth regulation by estrogen in breast cancer 1 This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p25.1 11591693 11700363 + 11674242 11782912 + 6480464 17666587;17463000;16496412;15986123;15001666;14702039;12477932;11103799;9628581;19240061;18794456;19842031;22884659;21577013;22359603;19945309;23056300;23104006;23251661 9687 C9JIG0;F8W6E5;Q9H2Q8 AB011147;ABBA01015651;ABBA01015652;ABBA01015653;AC011994;AC110754;AF245388;AF245389;AF245390;AK056886;AMYH01010113;AMYH01010114;AMYH01010115;BC034455;BC054502;BC071853;CH471053;NG_029429;NM_014668;NM_033090;NM_148903 AAG39036;AAG39037;AAG39038;AAH54502;AAH71853;AAI72757;AAX88907;BAA25501;EAX00925;EAX00926;EAX00927;EAX00928;EAX00929;EAX00930;NP_055483;NP_149081;NP_683701;Q4ZG55 Hs.467733 1695432;1723275;2162513;2191803;5014051;5015619;5016478;5016851;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D8S2278;D8S2279;GDB:434012;L18426;MARC_8069-8070:996688263:1;RH122327;RH69684;RH80031;SHGC-68806 KIAA0575 OTTHUMP00000180581;OTTHUMP00000180582;OTTHUMP00000180583;gene regulated by estrogen in breast cancer;gene regulated by estrogen in breast cancer protein;gene regulated in breast cancer 1 protein;protein GREB1 APPROVED protein-coding ENSG00000196208 24885 13611 611736 REVIEWED 1351643 GREB1L growth regulation by estrogen in breast cancer-like 18 18 18 q11.2 15628176 15908773 + 17076317 17356789 + 18822203 19102791 + 6480464 15146197;14702039;12477932;11214970 80000 B4DDS9;H7BYW2;J3KRT4;J3QQW0;J3QR03;Q9C091 AA703199;AB051559;ABBA01022687;ABBA01022688;ABBA01022689;ABBA01022690;ABBA01022691;ABBA01022692;ABBA01022693;AC011774;AC015878;AC022809;AK023749;AK293321;AK309723;AMYH01008876;BC125017;BE336624;BG774496;CH471088;CN369824;CN369826;DY655149;NM_001142966 AAI25018;BAB14666;BAB21863;BAG56840;EAX01122;EAX01123;EAX01124;EAX01125;EAX01126;NP_001136438;Q9C091 Hs.149020 1335116;1646746;1729922;1762111;2123401;2154465 D18S1149;D18S1230;D18S45;RH44941;RH45685;SHGC-146011 C18orf6;KIAA1772 GREB1-like protein APPROVED protein-coding ENSG00000141449 31042 11161 PROVISIONAL 733273 GRB7 growth factor receptor-bound protein 7 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 17 17 q12 35147713 35157064 + 37894162 37903538 + 1580863;6480464;6484113 9710451;10664463;15806159;19124506;17916906;17705331;17634422;17426702;17117180;16595785;16354586;15930003;15841400;15489334;15470489;15010812;14702039;14585167;12975581;12853971;12852788;12477932;12061724;12021278;11897833;11809769;11607834;11075810;10893408;10803466;10521483;10446223;10377264;9516479;9360986;9125150;9079677;8988034;8940081;8631863;8125298;1409582;15778465;20388850;12223469;14968112;19473962;19648926;19717535;20370637;20126311;20622016;21139214;16344560;20665473;20635137;22253820;17875712;21900206;22673522;22584052;12444928;22811067 2886 J3QKK7;J3QL76;Q96DF9 AB008789;AB008790;ABBA01031857;AC079199;AF274875;AK027729;AK125544;AK222849;AK222870;AK290115;AK294620;AK314368;AMYH01008376;AU124875;BC006535;BE247550;BT006686;CH471152;D43772;D87513;DC384178;NG_029932;NM_001030002;NM_001242442;NM_001242443;NM_005310 AAG25938;AAH06535;AAP35332;ABM84787;ABW03622;BAA07827;BAA13412;BAA29059;BAA29060;BAD96569;BAD96590;BAF82804;BAG36998;BAG51372;BAG54211;BAG57803;EAW60600;EAW60601;NP_001025173;NP_001229371;NP_001229372;NP_005301;Q14451 Hs.86859 2125561;2126411;2218546 GRB7_4323;STS-D43772;WI-9366 B47;GRB7 adapter protein;OTTHUMP00000164349;OTTHUMP00000164350;OTTHUMP00000164351;OTTHUMP00000164352;epidermal growth factor receptor GRB-7;growth factor receptor binding protein grb7;growth factor receptor-bound protein 7 APPROVED protein-coding ENSG00000141738 4567 03311 601522 REVIEWED 1346462 GREM1 gremlin 1, DAN family BMP antagonist This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 15 15 q13.3 30797497 30814158 + 33010205 33026870 + 632526;1580863;6480464;6484113 10026205 22525892;16545136;9660951;18545679;18469115;18314105;17980714;17975199;17403698;17015616;17003113;16606614;16234815;15957132;15539560;15528323;15489334;15340161;14702039;12885271;12808456;12477932;12135612;10894942;10744662;20659471;21214523;22706573;17207965;20660291;20610440;15064755;16816361;19031438;19453261;19505925;19577778;19597895;20023658;20042676;20150533;22576962;20705941;21655089;21935575;21978004;22048656;21761138;22160428;23266556;22870311;22839096 26585 A6XAA7;B3KTR9;H0YLY2;O60565 AB032372;ABBA01038561;AC090877;AF045800;AF110137;AF154054;AK095741;AK095890;AK095972;AK312265;AL359059;AL359060;AMYH01006505;AY232290;BC069525;BC093778;BC101611;CH471125;DQ100070;NM_001191322;NM_001191323;NM_013372;W19275 AAC39725;AAF06677;AAG23891;AAH69525;AAH93778;AAI01612;AAP69985;AAZ29612;ADQ32880;BAA84462;BAC04643;BAG35196;BAG53181;EAW92267;EAW92268;EAW92269;NP_001178251;NP_001178252;NP_037504;O60565 Hs.40098 1647241;2110441;2159718;2169858;5492599 GREM1_9497;RH47687;SHGC-54520;STS-N21113;UniSTS:481747 CKTSF1B1;DAND2;DRM;GREMLIN;IHG-2;MGC126660;PIG2 DAN domain family member 2;OTTHUMP00000159660;cell proliferation-inducing gene 2 protein;cysteine knot superfamily 1, BMP antagonist 1;down-regulated in Mos-transformed cells protein;gremlin 1, cysteine knot superfamily, homolog;gremlin 1-like protein;gremlin-1;increased in high glucose protein 2;increased in high glucose-2;proliferation-inducing gene 2 2289561 BW440_H APPROVED protein-coding ENSG00000166923 2001 07048 603054 REVIEWED 732473 GRB2 growth factor receptor-bound protein 2 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q24-q25 70825752 70913385 - 73314157 73401790 - 1302563;1302565;1299201;1581313;1300048;1642762;2299174;2317988;5686834;6480464;6484113;6907045 11369229;9865697;12891559;15272025;14685170;18175071;16829981;22029668 11882361;11877424;11827484;11741929;11741599;11739737;11733534;11923305;11897833;11726515;11711534;11707405;11707404;11606575;11571277;11551923;11551227;11546790;11533253;11527382;11509578;11483358;11466354;11439336;11433379;11432792;11384839;11371563;11352655;11314042;11292345;11278754;11278583;11173924;11157975;11152963;11133830;11127814;11094073;11071869;11063574;10982817;10973965;10970810;10942756;10940929;10940627;10903901;10900203;10899172;10820378;10790433;10781592;10781580;10748052;10747847;10706702;10660596;10636929;10602027;10559276;10521483;10490839;10488157;10477741;10469124;10467411;10455176;10395476;10377264;10359574;10354709;10339567;10330178;10329689;10319320;10318918;10224664;10090780;10087612;10086340;10080542;10077576;10068651;10051406;10022833;10022120;9927207;9891069;9891051;9856458;9852124;9846481;9843378;9830057;9824671;9788432;9733714;9722576;9716598;9705962;9697839;9694876;9670936;9668219;9660791;9660480;9642078;9632781;9632636;9590294;9569023;9553137;9544989;9516488;9507006;9489702;9484780;9480847;9422736;9395447;9393871;9388224;9380408;9368064;9346925;9344857;9341187;9307968;9299436;9295052;9281317;9233773;9182757;9178913;9178909;9178760;9171350;9135065;9108392;9079622;9062191;9050991;9045692;9045636;8253073;12577067;8388384;11520933;1322798;7739560;8479541;8493579;8621719;8810325;9356464;9690470;10567358;9038219;9019171;9016807;9013873;9009162;8995445;8994038;8986819;8955163;8943348;8918464;8887653;8816480;8798570;8794768;8780727;8723348;8702859;8700507;8695800;8670803;8670205;8663276;8662998;8662907;8662889;8662748;8649391;8649368;8647288;8633037;8631894;8630373;8621483;8585965;8585605;8576157;8570203;8547634;8536716;8491186;8262059;8188688;8178156;8119878;8112292;8063801;8041791;8022809;7997267;7982917;7970715;7935391;7929073;7881903;7809090;7806216;7806213;7799925;7798267;7759531;7744812;7737969;7737275;7716522;10648629;10734310;10913131;11606067;11823423;11894095;14560030;14665621;15574420;14722116;19323566;19289468;19273609;18789888;18778683;18660489;18467332;18425376;18420583;18307981;18258597;18231572;18192688;18003605;17991782;17849173;17689925;17616655;17466257;17081983;16955467;16906159;16818765;16760435;16730941;16729043;16407827;16382132;16344560;16339550;16298995;16249387;16038803;15879090;15688026;15635092;15556869;15546961;15489334;15467741;15368963;15326489;15314156;15187135;15182856;15173068;15122321;14702039;14679214;14667819;13129930;12852788;12748278;12730204;12624098;12531430;12529371;12522133;12514734;12486104;12485888;12477932;12441060;12424224;12402043;12400011;12399475;12388170;12359715;12345679;12242309;12242006;12220636;12186904;12171928;12162872;12149229;12112020;12023017;12007418;12006650;11997436;11997181;11964172;11960376;10386953;7706237;7675451;7675449;7664271;7642542;7629168;7629138;7559579;7556090;7544353;7535773;7534299;7527043;7524086;7518772;7511210;7510700;7500025;7488107;7488076;7486658;7478529;1384039;917890;11006130;10906142;16436505;17904548;8647802;17971399;10085134;10026169;8647858;18273061;10570290;10204582;9872323;9461587;9367879;9174058;8083187;17974561;9407116;7926767;9614102;15143164;10887132;9747873;7529874;11505033;11302736;9126968;9083103;8662733;8294403;8195171;7514169;11279207;9428629;11287610;11827972;10921882;11449366;12186560;11368773;10092678;11782427;10391903;8805332;10747947;10716926;10207103;9344843;10212213;9362449;8995399;8632004;8940134;12558988;12005431;10806474;10085298;8649427;10224278;8985255;12173038;8900182;8183561;7665556;7512734;8596638;9710588;7797522;11431473;9742218;11394904;10822386;12615911;8657152;10748054;7862111;15735675;9047383;9148935;12470648;11053437;15782189;10571082;9374537;11878897;15782196;7597091;10891441;8939605;7515480;8084588;8305738;8943292;9129019;9234717;9311917;9434624;9756944;9851874;9886492;10025673;10521482;10829062;10962563;11370743;11418612;12444928;12941616;17255109;17452978;17944804;19322201;19380485;19433454;19823681;19836242;21628590;22267732;22327338;22726438;7791764;8626404;7523381;8195176;20850195;21072043;19913121;20628086;21195589;10206341;10871282;10980613;11278465;11353842;12006576;14725908;14968112;14985334;14993658;15558030;15784897;15834155;16103119;16219545;16374509;16696976;16799092;16899217;16938345;16966330;17276458;17409413;17474147;18624398;19172738;19337752;19523899;19615732;19668218;19682241;19716163;19735729;19805522;19914172;19924227;20005866;20124721;20379614;20468064;7518560;9032261;9632734;21048031;20596655;20936779;10595738;11263968;11408594;12176364;12898421;16137687;21145461;22553920;8649804;8824292;8900205;8950973;9092538;9259313;9416834;20554525;12839496;15812354;20700730;20618341;21185312;12925710;21179510;17242169;21508312;15488758;19109251;19850743;17001306;20086093;20124286;20159979;21745501;22974441;15210722;22027826;19531499;21596750;21900206;21903422;22001015;23460737;22396725;22094095;23000965;23223229;15677445;16273093;16893902;18296648;19738201;21988832;22323290;22623428;17875712;21139048;21706016;21890473;21906983;21963094;18654987;22360309;12810066;17437541;18647389;21822214;22344067;22536782;22745667;8552632;22505611;19509291;21222362;11399323;21309750;7537740;7592693;8695851;23131845;23420874;10049786;10542228;14506255;15004239;17072306;18271526;19380743;20697350;22190034;7642581;8995358;9242692;9361008;9541596;9804835;9819383;22882974;23159538;23267066 2885 B0LPF3;J3KT38;J3QLF6;J3QRL5;P62993 AA452034;ABBA01028798;ABBA01028799;ABBA01028800;ABBA01028801;AC011933;AF063618;AF171699;AF246238;AF302079;AF498925;AK024539;AK091010;AK315565;AMYH01008633;AMYH01008634;BC000631;BC019082;BC033644;BC039827;BC043007;BI459414;BQ073225;BQ962129;CH471099;CR450363;CR541942;DA458680;EU332843;JX512444;L29511;M96995;NG_029556;NM_002086;NM_203506;X62852 AAA58448;AAC37549;AAC72075;AAG27442;AAG44485;AAH00631;AAM21073;AAQ13606;ABM82756;ABM85849;ABY87532;AGC09591;BAB14923;BAG37940;BAG52262;CAA44664;CAG29359;CAG46740;EAW89270;EAW89271;EAW89272;NP_002077;NP_987102;P62993 Hs.444356 1730223;1770622;2110895;2179597;5015619;5037552;7186426 D11S3114;D17S820E;D17S853E;D8S2279;RH16251;RH17761 ASH;EGFRBP-GRB2;Grb3-3;MST084;MSTP084;NCKAP2 HT027;OTTHUMP00000166095;OTTHUMP00000166096;OTTHUMP00000166097;OTTHUMP00000166098;SH2/SH3 adapter GRB2;abundant SRC homology;adapter protein GRB2;epidermal growth factor receptor-binding protein GRB2;growth factor receptor bound protein 2;growth factor receptor-bound protein 2;growth factor receptor-bound protein 3;protein Ash 2289580;2289581;2289583 BW460_H;BW461_H;BW462_H APPROVED protein-coding ENSG00000177885 4566 00150 108355 REVIEWED 1350364 GREM2 gremlin 2, DAN family BMP antagonist This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008] 1 1 1 q43 213908963 214031592 - 238719496 238842085 - 240652873 240775462 - 6480464 15621726;17029022;16710414;15489334;15254711;15039429;14702039;14525956;12477932;22542470;19626040;20379614;22199011;23437003 64388 Q9H772 ABBA01033234;ABBA01033235;AK024848;AL358176;AMYH01001875;BC046632;BQ005641;CH471098;NM_022469 AAH46632;BAB15026;EAW70083;EAW70084;NP_071914;Q9H772 Hs.98206 1660527;1689821;1755513;2120592;2139884 A004V04;RH68323;RH92820;SHGC-142373;SHGC-76594 CKTSF1B2;DAND3;PRDC DAN domain family member 3;OTTHUMP00000037834;cysteine knot superfamily 1, BMP antagonist 2;gremlin 2 homolog, cysteine knot superfamily (xenopus laevis);gremlin 2, cysteine knot superfamily, homolog;gremlin-2;protein related to DAN and cerberus APPROVED protein-coding ENSG00000180875 17655 16390 608832 REVIEWED 1313942 GRHL1 grainyhead-like 1 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009] 2 2 2 p25.1 10007717 10058329 + 10009273 10059856 + 10091792 10142412 + 1580863;6480464 18029348;18004979;16344560;15815621;15489334;12549979;12477932;12393799;12175488;10644752 29841 B7Z1S6;C9JYY8;F8WFB0;J3KPZ1;Q8NI33 AA234992;ABBA01015598;ABBA01015599;ABBA01015600;AC010969;AF198489;AF411210;AI686262;AK293855;AK296982;AK312950;AMYH01010097;BC063299;BC067519;BC067520;BC067521;BC098456;BE537504;BF573452;CB048030;CB960104;CD559574;CH471053;DA860769;NM_198182 AAF32276;AAH67519;AAH67520;AAH67521;AAM22616;AAX93273;BAG35791;BAG59523;BAH11612;EAX00973;NP_937825;Q9NZI5 Hs.418493 1335951;1666664;1670812;1696504;1760499;2109941;2134271;5015961;5022578;5037552 D15S1477;D1S1423;D1S249;D8S2279;RH16450;SHGC-143472;SHGC-83141;TFCP2L2_9592;WI-11185;WI-16721 LBP32;MGR;NH32;TFCP2L2 LBP protein 32;OTTHUMP00000200390;OTTHUMP00000213819;grainyhead-like protein 1 homolog;mammalian grainyhead;transcription factor CP2-like 2;transcription factor LBP-32 APPROVED protein-coding ENSG00000134317 17923 18176 609786 REVIEWED 1342517 GRHL2 grainyhead-like 2 (Drosophila) The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009] 8 8 8 q22.3 98689599 98866864 + 102574162 102750995 + 102504668 102681954 + 6480464;7240710 21557239;18029348;19015635;18752864;17921507;15489334;14702039;12549979;12477932;12393799;12175488;20379614;20978075;20938050;21832049;23690579;21949371;22379025;20301607;23254293;23284647 79977 Q6ISB3 ABBA01037595;ABBA01037596;ABBA01037597;AK002034;AK023844;AK292853;AK296817;AK310221;AMYH01018933;AP000426;AP001207;BC069618;BC069633;BC069638;BC129822;BC129823;CH471060;HC289750;NG_011971;NM_024915 AAH69618;AAH69633;AAH69638;AAI29823;AAI29824;BAB14699;BAF85542;BAG59390;CBJ06470;EAW91833;EAW91834;NP_079191;Q6ISB3 Hs.661088 1674222;1719385;2149335;2179395 RH123420;RH36161;RH65468;WI-11745 BOM;DFNA28;FLJ11172;FLJ13782;MGC149294;MGC149295;TFCP2L3 OTTHUMP00000195101;OTTHUMP00000195102;brother of mammalian grainyhead;grainyhead-like protein 2 homolog;transcription factor CP2-like 3 APPROVED protein-coding ENSG00000083307 2799 10545 608576;608641 REVIEWED 1318023 GRHL3 grainyhead-like 3 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010] 1 1 1 p36.11 22972902 23018113 + 24518468 24554395 + 24645812 24690972 + 6480464 18814840;16710414;15489334;14702039;12549979;12477932;16344560;21856281;22829784;22581228;22931925;22614019 57822 E9PLG9;E9PLT6;Q8TE85 ABBA01059903;ABBA01059904;AK074386;AK315164;AL031431;AL137763;AL138902;AMYH01000369;AY231160;AY231161;BC036890;BU848928;CH471134;DA714132;NG_009308;NM_001195010;NM_021180;NM_198173;NM_198174 AAH36890;AAO67370;ABZ92406;BAB85067;BAG37608;CAB70911;EAW95120;EAW95121;EAW95122;EAW95123;NP_001181939;NP_067003;NP_937816;NP_937817;Q8TE85 Hs.657920 1660541;1766127 SHGC-149508;SHGC-74407 MGC46624;SOM;TFCP2L4 OTTHUMP00000003072;OTTHUMP00000003297;OTTHUMP00000003298;OTTHUMP00000234795;grainyhead-like protein 3 homolog;sister of mammalian grainyhead;sister-of-mammalian grainyhead;transcription factor hSOM1 APPROVED protein-coding ENSG00000158055 25839 12210 608317 REVIEWED 6767246 GRID1-AS1 GRID1 antisense RNA 1 10 87337488 87366972 + 14702039 100507470 ABBA01033648;ABBA01033649;AC022028;AI223409;AK097655;AMYH01002897;NR_038986 Hs.585483 APPROVED miscrna 44131 VALIDATED 1351156 GRID2IP glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008] 7 7 7 p22.1 6144125 6198795 + 6503930 6557592 - 6536409 6591067 - 6480464 17027646;16835239;14612983;12690205;11826110 392862 A4D2P6;C9J5F6;C9JNS8 AACC02000122;ABBA01056492;ABBA01056493;ABBA01056494;AC072052;AMYH01017039;AMYH01017040;CH236963;NM_001145118 A4D2P6;EAL23724;NP_001138590 Hs.512174 DELPHILIN OTTHUMP00000208189;OTTHUMP00000208190;OTTHUMP00000208191;OTTHUMP00000208192;delphilin;glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1;glutamate receptor, ionotropic, delta 2-interacting protein 1 APPROVED protein-coding 18464 610639 VALIDATED 1318860 GRHPR glyoxylate reductase/hydroxypyruvate reductase This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008] 9 9 q12 37412707 37426986 + 37422707 37436986 + 1599318;1580863;6480464;6907045;7240710 10484776 10524214;15231747;11256614;19296982;17510093;16756993;16381901;15489336;15489334;15327387;14702039;12477932;11076863;11030416;10679197;15956068;20301742;22939629;22990118;21963094;21988832;21139048;21906983 9380 Q5T946;Q9H636;Q9UBQ7 ABBA01050396;ABBA01050397;AF113215;AF113251;AF134895;AF146018;AF146689;AK024386;AK025978;AK026287;AK026752;AK307325;AK307902;AK315690;AL158155;AMYH01019358;BC000605;BC003131;BC088360;CH471071;NG_008135;NM_012203 AAD45886;AAD46517;AAD54066;AAF00111;AAG39286;AAH00605;AAH88360;BAB15430;BAG38053;CAL38281;CAL38505;EAW58283;EAW58284;EAW58285;EAW58286;NP_036335;Q9UBQ7 Hs.155742 1646716;1654884;1710966;2177776;5022578 D1S1423;RH35879;RH45280;RH45369;SHGC-84462 GLXR;GLYD;PH2 OTTHUMP00000021379;OTTHUMP00000021380;glycerate-2-dehydrogenase;glyoxylate reductase/hydroxypyruvate reductase APPROVED protein-coding ENSG00000137106 4570 05052 260000;604296 REVIEWED 731547 GRIA1 glutamate receptor, ionotropic, AMPA 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q31.1 152850499 153171354 + 152870084 153193429 + 1580863;704404;4107070;4108489;4107726;2325963;2325284;4107069;4107719;2326034;6480464;6484113;6907045;7240704 20398734;19450629;19666089;19660546;18237558;20408958;19914343;19154779;22334212 1311100;19295509;19260139;19156168;19086053;18957620;18484081;18444252;18317690;18305116;17545169;17483093;17208968;16526023;15866042;15858065;15673434;15489334;15145077;15144856;14614461;14610080;12888558;12609872;12603841;12573530;12477932;12368290;12125045;11916847;11891216;11751897;11567040;11418862;11140673;11050113;10896157;10751563;1320959;1319477;12933808;8288598;10575214;10461883;10364548;10358037;10023812;9808458;9677374;9466455;9407043;9069287;8663994;8420792;8163463;7919190;7877986;1652753;21658281;20579352;12172541;16055064;17409242;18311135;19004011;19217372;19536293;19773551;19805317;20237279;20379614;20398908;20468064;9481670;9648857;21037582;20859245;20592726;20837486;21156788;21338354;21697386;21116212;21846932;21843653;21856433;21148011;21186356;22094384;22122651;21782286;22057216;23053966;23110111;23223299;23251661 2890 B7Z1W1;B7Z9G9;E7EMV5;P42261;Q59GL5 AB209094;ABBA01026242;ABBA01026243;ABBA01026244;AC010613;AC025156;AC091960;AC091962;AK289565;AK294011;AK294773;AK295039;AK295184;AK295827;AK310189;AK315934;AL120214;AMYH01015726;BC111734;CH471062;DC335107;FJ947077;FJ947078;M64752;M81886;NM_000827;NM_001114183;NM_001258019;NM_001258020;NM_001258021;NM_001258022;NM_001258023;NR_047578;X58633;Z70220 AAA58395;AAA58613;AAI11735;ACR45954;ACR45955;BAD92331;BAF82254;BAH11647;BAH11879;BAH11956;BAH12004;BAH12192;BAH14305;CAA41491;EAW61649;EAW61650;EAW61651;NP_000818;NP_001107655;NP_001244948;NP_001244949;NP_001244950;NP_001244951;NP_001244952;P42261 Hs.519693;Hs.737709 1338157;1341593;1680224;1682433;1714525;1749563;1752255;1756641;1766255;1781188;1797670;2116411;2165425;2165427;2166233;2171281;2180044;5114286;7183712 A001Y15;D5S1978;D5S2007;G15853;G19777;GRIA1;GRIA1_1985;RH119775;RH15881;RH26210;RH36674;RH45466;SHGC-106132;SHGC-111262;SHGC-143689;SHGC-149610;STS-M64752;WI-18998 GLUH1;GLUR1;GLURA;GluA1;HBGR1;MGC133252 AMPA 1;AMPA-selective glutamate receptor 1;OTTHUMP00000160643;OTTHUMP00000165781;OTTHUMP00000224241;OTTHUMP00000224242;OTTHUMP00000224243;gluR-1;gluR-A;gluR-K1;glutamate receptor 1;glutamate receptor, ionotropic, ampa1 (alpha 1) APPROVED protein-coding ENSG00000155511 4571 00695 138248 REVIEWED 737336 GRIA3 glutamate receptor, ionotropic, AMPA 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008] X X q25 122145777 122452447 + 122318096 122624766 + 1580863;6480464;6907045;7240710 1709304;19548263;19449417;19295509;19156168;19086053;18593792;18163426;17989220;17202328;16368877;16344560;15772651;15145077;15144856;14687553;14663150;12682273;12477932;12125045;11931740;11891216;11725645;11160179;10688364;10644433;10602120;9892356;9697855;8951883;8036512;7918660;1319477;16990550;20579352;20564826;10027300;12172541;16055064;17409242;18311135;19004011;19217372;19736351;19933774;19945495;9481670;9648857;9768844;20689760;20859245;23595422;22429480;21966062;23149219 2892 B7Z4C0;F5H470;P42263;Q17R51;Q4TT43;Q5XKG2 ABBA01036314;ABBA01036315;ABBA01036316;ABBA01036317;ABBA01036318;ABBA01036319;ABBA01036320;ABBA01036321;ABBA01036322;ABBA01036323;ABBA01036324;ABBA01036325;ABBA01036326;ABBA01036327;ABBA01036328;ABBA01036329;ABBA01036330;ABBA01036331;ABBA01036332;ABBA01036333;ABBA01036334;ABBA01036335;ABBA01036336;ABBA01036337;ABBA01036338;ABBA01036339;AF159277;AF166365;AF167332;AF201349;AK297136;AL035426;AL356213;AL590139;AMYH01022934;AMYH01022935;AW166130;BC032004;BC117464;BE504553;BY799542;CH471107;DA158269;DA179917;DA180344;DA191279;DB505790;NG_009377;NM_000828;NM_001256743;NM_007325;U10301;U10302;Z82899;Z83848 AAA67922;AAA67923;AAF23961;AAF61847;AAF61848;AAF97857;AAF97858;AAF97859;AAH32004;AAI17465;ADR83410;BAH12506;EAX11865;EAX11866;EAX11867;NP_000819;NP_001243672;NP_015564;P42263 Hs.377070 1340699;1341113;1667257;1667482;1668760;1679910;1687502;1691618;1691668;1691674;1702176;1702298;1702466;1702690;1703060;1718941;1748215;1848550;1849955;1851299;1853127;2131989;2137926;2149230;2153720;2178684;5017909 AFM280vf5;AL008897;AL008898;AL008928;AL032579;AL032602;AL032603;DXS1212;DXS1353;DXS7322;DXS7329;DXS7332;DXS7334;DXS7335;DXS7869;DXS7912;DXS7913;DXS7921;DXS8280;DXS9909;G65742;GRIA3;RH123177;RH80476;RH91805;SHGC-57682;WI-21212 GLUR-C;GLUR-K3;GLUR3;GLURC;GluA3;MRX94 AMPA-selective glutamate receptor 3;OTTHUMP00000024261;OTTHUMP00000024262;dJ1171F9.1;gluR-3;glutamate receptor 3;glutamate receptor C;glutamate receptor ionotropic, AMPA 3;glutamate receptor subunit 3;glutamate receptor, ionotrophic, AMPA 3;glutamate receptor, ionotropic, ampa3 (alpha 3) APPROVED protein-coding ENSG00000125675 4573 02378 300699;305915 REVIEWED 1352884 GRIK1-AS1 GRIK1 antisense RNA 1 21 21 21 q22.11 16303627 16319459 + 30053045 30053155 + 31120494 31136325 + 12036298;11329013 642976 ABBA01057260;AF107258;AMYH01012188;AP000237;AW150267;AY077697;BG187681;NR_027021 AAL82537 Hs.473554 C21orf9;GRIK1-AS;GRIK1AS;NCRNA00110 APPROVED miscrna 16458 PREDICTED 1344582 GRIK1-AS2 GRIK1 antisense RNA 2 21 21 21 q22.11 16151475 16186190 + 29621321 29924942 + 30968360 31003067 + 12036298;10830953 100379661 ABBA01057259;AMYH01012188;AP000238;AP000239;AY081145;NR_033368 AAL91139 Hs.659368 1742695;1742699;1759913;1773921;1773923;2179476 D5S1704;GDB:201820;GDB:201822;SHGC-170304;SHGC-52073;STS-N32079 C21orf41;NCRNA00258 APPROVED miscrna ENSG00000156273;ENSG00000183653 1282 PREDICTED 1345419 GRIFIN galectin-related inter-fiber protein 7 7 7 p22.3 2484120 2485839 - 2481298 2523910 - 2514772 2516489 - 70755;6480464 9786891 18087242;17999360;15146197;12853948;12690205;19296714 402635 A4D1Z8 AACC02000053;ABBA01039374;AC004840;AMYH01016971;AMYH01016972;CH236953;CN281639;NG_032051 EAL23956 1339057;1696456;7187472 D7S1532;SHGC-79769 pseudo 4577 VALIDATED 735713 GRIK3 glutamate receptor, ionotropic, kainate 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008] 1 1 p34.3 37039201 37272431 - 37261128 37499844 - 1580863;6480464;6907045 9144652;7719709;19320626;19221446;19125103;19086053;19022628;18423838;17213182;16958029;16356644;16325263;16314883;15897672;15094479;11986986;11943148;11124978;10737800;9466455;8163463;8128318;11891216;20052609;19342380;19921975;19995671;20379614;20859245;23894747;22232963;23006490 2899 A9Z1Z8;Q13003 ABBA01023290;ABBA01023291;ABBA01023292;AC117945;AJ249210;AJ299451;AJ308525;AJ308526;AL355386;AL591883;AMYH01000499;AW898512;BG057125;BG818719;BI544689;BQ446793;CH471059;DR003075;DT217951;NG_011447;NM_000831;S69349;U16127;U16128 AAB30157;AAB60407;AAC50421;AAI56722;CAC40655;CAC40656;CAC40657;CAC44965;CAC80548;EAX07350;EAX07351;NP_000822;Q13003 Hs.128848 1335251;1336484;1653084;1693076;1699084;1720775;1733126;1739985;1756243;1781446;1795946;1852884;2124511;2145974;2146729;7185524 AL009961;AL010015;AL034266;D11S4066;D1S1444;D1S472;G15720;G59361;GRIK3_966;RH103118;RH79120;SHGC-112050;SHGC-143130;SHGC-31550;SHGC-74612 EAA5;GLR7;GLUR7;GluK3;GluR7a OTTHUMP00000004360;OTTHUMP00000004361;dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3 (GLUR7));excitatory amino acid receptor 5;gluR-7;glutamate receptor 7;glutamate receptor ionotropic, kainate 3;glutamate receptor, ionotropic kainate 3 APPROVED protein-coding ENSG00000163873 4581 00691 138243 REVIEWED 732446 GRIA2 glutamate receptor, ionotropic, AMPA 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008] 4 4 q32.1 158361186 158506677 + 158141736 158287227 + 737715;1580863;6480464;6484113;6907045 7502080 8003671;19156168;19102704;19086053;18403631;18163426;17942280;16344560;16215279;16045445;15489334;15342556;15145077;15144856;15071096;15006707;14985749;14630051;12859334;12805550;12694394;12477932;12130635;12125045;12062022;11931740;11860506;11086992;11007883;10985351;10688364;10501226;8420792;8269514;7919190;7545935;7523595;1717158;1699275;1319477;1311100;10576550;11891216;8288598;11140673;10358037;12573530;16990550;22057216;14730302;21988832;23595422;21383172;10027300;11466413;12058067;14687553;15858065;16055064;17409242;19004011;19448189;19558602;19651138;19933774;20347265;20398908;20409611;20468064;8848293;9481670;9648857;9697855;9768844;21173224;21221849;22366356;22094384;22122651;21843653;21856433;22644307;21397006;21948504;18311135 2891 A8MT92;D6R9Z0;D6RBV7;D6RDX5;D6REK8;D6RFM6;F8W7L6;H0Y972;I6L997;P42262 AB209567;ABBA01070190;ABBA01070191;ABBA01070192;ABBA01070193;AC079233;AC112240;AF201343;AK294458;AK308775;AK309067;AL708924;AL832605;AMYH01014637;BC010574;BC028736;BP202382;BP202686;CH471056;DA228330;DA810082;FJ460423;FJ460424;FJ460425;FJ460426;FJ460427;FJ460428;FJ460429;FJ460430;FJ460431;FJ460432;L20814;NM_000826;NM_001083619;NM_001083620;X64829;X64830 AAA58631;AAF23955;AAH10574;AAH28736;ACJ74177;ACJ74178;ACJ74179;ACJ74180;ACJ74181;ACJ74182;ACJ74183;ACJ74184;ACJ74185;ACJ74186;BAD92804;BAH11774;EAX04865;EAX04866;EAX04867;EAX04868;EAX04869;EAX04870;EAX04871;NP_000817;NP_001077088;NP_001077089;P42262 Hs.32763 1662910;1685193;1686038;1752537;1778736;1788610;2116313 BB085555;D4S2322;D4S2841;RH25939;SHGC-106423;SHGC-30802;SHGC-67298 GLUR2;GLURB;GluA2;GluR-K2;HBGR2 AMPA-selective glutamate receptor 2;OTTHUMP00000165322;OTTHUMP00000165323;OTTHUMP00000165324;OTTHUMP00000220942;OTTHUMP00000220943;gluR-2;gluR-B;glutamate receptor 2;glutamate receptor, ionotropic, 2 APPROVED protein-coding ENSG00000120251 4572 04726 138247 REVIEWED 68523 GRID1 glutamate receptor, ionotropic, delta 1 This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009] 10 10 10 q22 81354751 82123191 - 87349292 88116230 - 87359312 88126250 - 1580863;6480464 19346103;17490860;16380905;15489334;12477932;12372286;11829466;10574462;10234023;9828146;1372507;19584346;20379614;23568457;23017809;22699663;23180869;23362303 2894 A8KAN9;B7Z7L0;G3V186;Q9ULK0 AB033046;ABBA01033648;ABBA01033649;ABBA01033650;ABBA01033651;ABBA01033652;ABBA01033653;ABBA01033654;ABBA01033655;ABBA01033656;ABBA01033657;ABBA01033658;ABBA01033659;ABBA01033660;ABBA01033661;ABBA01033662;ABBA01033663;ABBA01033664;AC022028;AC073162;AC079955;AK127168;AK293104;AK302192;AL451059;AL596135;AL683834;AL732479;AL844892;AMYH01002897;AMYH01002898;BC039263;BC047948;CH471142;DR001156;NG_011875;NM_017551 AAH39263;BAA86534;BAF85793;BAG54447;BAH13646;EAW80338;EAW80339;EAW80340;EAW80341;NP_060021;Q9ULK0 Hs.530653 1334550;1342194;1660124;1663495;1665161;1708328;1718903;1748907;1749731;1758269;1758655;1761001;1763729;1764443;1764507;1764789;1766937;1772451;1782014;2108779;2136052;2156026;2217062 BAZ1B_3920;D10S1579;D10S1698;D10S1769;D10S2224;G17462;G20570;G28626;GRID1_3289.2;RH123157;SHGC-110567;SHGC-111404;SHGC-144945;SHGC-147402;SHGC-147860;SHGC-148036;SHGC-148109;SHGC-148359;SHGC-148651;SHGC-149062;SHGC-152438;SHGC-81562;UniSTS:37720 GluD1;KIAA1220 OTTHUMP00000020002;OTTHUMP00000020003;gluR delta-1 subunit;glutamate receptor delta-1 subunit;glutamate receptor ionotropic, delta-1 APPROVED protein-coding ENSG00000182771 4575 17078 610659 REVIEWED 68527 GRID2 glutamate receptor, ionotropic, delta 2 Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. A point mutation in mouse GRID2, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This strongly suggests a role for GRID2 in neuronal apoptotic death. [provided by RefSeq, Jul 2008] 4 4 q22 93444573 94912672 + 93225550 94693649 + 704404;1580863;6480464;6907045 18256267;9465309;17027646;12589829;12573530;12477932;12372286;11829466;10748123;10234023;9847074;7506541;11826110;14572453;20379614;20487506;20859245;21368048;23251661 2895 D6R976;D6R9W8;E9PH24;H0YA12;O43424 AB209318;ABBA01063594;ABBA01063595;ABBA01063596;ABBA01063597;ABBA01063598;ABBA01063599;ABBA01063600;ABBA01063601;ABBA01063602;ABBA01063603;ABBA01063604;ABBA01063605;ABBA01063606;ABBA01063607;ABBA01063608;ABBA01063609;AC020699;AC022317;AC093596;AC093733;AC095059;AC096769;AC104077;AC105315;AC105452;AC108158;AC110800;AC112695;AC115111;AC115537;AF009014;AK302355;AK308611;AK310262;AMYH01014400;AMYH01014401;AMYH01014402;BC099652;BC099653;BC099654;CH471057;NM_001510 AAC39579;AAH99652;AAH99653;AAH99654;AAY40921;AAY40938;AAY41014;AAY41015;BAD92555;BAG63681;EAX06044;NP_001501;O43424 Hs.480281 1336429;1340403;1666384;1673516;1677444;1695832;1695854;1696074;1710302;1714303;1715799;1720537;1729001;1731455;1731467;1733528;1737539;1737541;1748669;1750485;1751527;1753979;1760097;1763041;1780078;1852261;1855497;2108781;2116958;2122603;2134307;2141476;2152095;2161937;2164219;2166369;2169038;2175796;2176754;2178062;2179346;2184495;2184598;2187200;5019859 D4S1135;D4S2351;D4S2364;D4S2404;D4S2667;D4S2692;D4S2693;D4S312;D4S3224;D4S3264;D4S477;D4S542;D4S650;D4S799;D4S965;G09726;G16769;G34300;G54560;G59222;GRID2_2962;Grid2;RH119596;RH119932;RH92539;SHGC-105322;SHGC-107742;SHGC-110334;SHGC-111791;SHGC-132008;SHGC-146786;SHGC-154327;SHGC-24441;SHGC-50210;SHGC-50409;SHGC-51119;SHGC-51584;SHGC-67661;SHGC-78763;SHGC-78799;SHGC-79101;SHGC-85257;SHGC4-1553;STS-Z70764;WI-13806 GluD2;MGC117022;MGC117023;MGC117024 GluR-delta-2;OTTHUMP00000161600;OTTHUMP00000219270;gluR delta-2 subunit;glutamate receptor delta-2 subunit;glutamate receptor ionotropic, delta-2 APPROVED protein-coding ENSG00000152208 4576 06781 602368 VALIDATED 731546 GRIK1 glutamate receptor, ionotropic, kainate 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.11 29831125 30234153 - 30909254 31312282 - 704404;1358334;1580863;1642476;1642498;1642496;6480464;6907045 9259378;11702055;10580501;12724156 9335499;8260617;19331489;19095219;19086053;18519826;17903305;17698324;15974569;14527949;12597860;11943148;11891216;11418862;10830953;10828597;10023812;9808458;9069287;8589992;8468067;8419920;8163463;7696618;12477932;20339536;22807686;20602751;16221857;18821565;19320626;19342380;19874574;19893199;19941835;20201926;20379614;20453000;20859245;20978832;20494980;15163799;22730074;21139048;22191429;22446040;20848601;22931243;23453885 2897 E7ENK3;E7EPY9;E7EPZ0;E9PD61;F5H1W5;F8W7X3;H7BYG7;P39086 AA404271;ABBA01057259;ABBA01057260;ABBA01057261;ABBA01057262;ABBA01057263;ABBA01057264;AF107257;AF107259;AJ249208;AK294353;AK296404;AMYH01012188;AP000091;AP000236;AP000237;AP000238;AP000239;BC028238;BC111793;CH471079;L19058;NM_000830;NM_175611;U16125 AAA52568;AAA95961;AAD03059;AAD04931;AAI52728;AAI56976;BAA97452;BAH11742;BAH12343;CAC80546;EAX09906;EAX09907;EAX09908;EAX09909;EAX09910;NP_000821;NP_783300;P39086 Hs.664641 1696454;1709476;1717195;1720139;1729602;1730618;1734336;1734358;1734366;1742695;1742697;1742699;1751697;1759907;1759909;1759911;1759913;1773921;1773923;1784474;1784476;2111007;2132528;2136573;2151449;2164029;2178884;2179476;2219104;5110586;7184736 D21S1236E;D21S1685;D21S1699;D21S1703;D21S1845;D21S2054;D21S213;D21S300;D5S1704;GDB:201820;GDB:201821;GDB:201822;GRIK1_3151;L17771;RH119595;RH122011;RH123847;RH71358;SHGC-105746;SHGC-170155;SHGC-170157;SHGC-170298;SHGC-170300;SHGC-170302;SHGC-170304;SHGC-52073;SHGC-52133;SHGC-79762;SHGC-81790;STS-N32079 EAA3;EEA3;GLR5;GLUR5;GluK1 OTTHUMP00000096568;OTTHUMP00000096569;OTTHUMP00000096570;OTTHUMP00000096571;OTTHUMP00000096572;OTTHUMP00000096573;OTTHUMP00000096574;excitatory amino acid receptor 3;gluR-5;glutamate receptor 5;glutamate receptor ionotropic, kainate 1;glutamate receptor, ionotropic kainate 1 APPROVED protein-coding ENSG00000171189 4579 00693 138245 REVIEWED 733691 GRIK2 glutamate receptor, ionotropic, kainate 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive mental retardation. [provided by RefSeq, Jul 2008] 6 6 q16.3 101953675 102623474 + 101846861 102517958 + 1358638;704404;1580863;6480464;2316528;6907045;7240710 10522893;17639597 15537878;7536611;19295509;19268276;19260141;19225180;19086053;18692513;18690046;18664604;18658129;18593792;18519826;17847003;17712621;17428563;17379418;17167233;16959037;16847693;15305151;15094479;14567698;12954862;12821179;12597860;12573530;12477932;12467946;12151522;12070168;11920157;11744724;11675011;11279111;11276111;10358037;9808460;9651532;9466455;9108071;9099808;8889548;8618850;8288598;8188697;8163463;8094892;8034316;7696618;7675232;7523595;11891216;16221857;18289788;19342380;19617541;19920140;20230879;20370803;20379614;20442744;20859245;20863077;21348951;21912186;21557188;22797727;22889921;23251661;23362303;21988832;22429480;23037145;23400781;22771793 2898 A8K0H7;F8WEZ8;G3XAD3;H7BZX7;H7C2P5;Q8IY40;Q8WWS1 ABBA01014456;ABBA01014457;ABBA01014458;ABBA01014459;ABBA01014460;AI087397;AJ252246;AJ301608;AJ301609;AJ301610;AK289542;AK291965;AK303721;AL109919;AL355532;AL357058;AMYH01016546;AMYH01016547;AMYH01016548;AP002528;AP002529;AP002530;AW949408;BC037954;BC063814;BM722353;BQ717946;CH471051;HM149335;HM149336;HM149337;HM149338;HM149339;NG_009224;NM_001166247;NM_021956;NM_175768;S75105;U16126 AAC50420;AAH37954;AAH63814;ADH93569;ADH93570;ADH93571;ADH93572;ADH93573;ADZ15908;BAF82231;BAF84654;BAH14032;CAC25104;CAC67485;CAC67486;CAC67487;CAC81020;EAW48446;EAW48447;EAW48448;NP_001159719;NP_068775;NP_786944;Q13002 Hs.98262 1334648;1334651;1335966;1337037;1337325;1338340;1339663;1340078;1669583;1690858;1694836;1714005;1718803;1719553;1723253;1743793;1747639;1763423;1785894;2113634;2145286;2178956;2184491;2217384;5020988;5022322;5037552;5117006;7185235;7186757;7187977 D11S2560;D22S958;D6S1028;D6S1219E;D6S1543;D6S1642;D6S1709;D6S283;D6S434;D6S449;D8S2279;G15813;G43669;G65520;GDB:373727;GRIK2_3094;RH119433;RH122313;RH123105;RH123509;RH46628;RH92163;SGC34572;SHGC-141507;SHGC-147136;STS-H15417;UniSTS:478947;contig_366814 EAA4;GLR6;GLUK6;GLUR6;GluK2;MGC74427;MRT6 OTTHUMP00000017949;OTTHUMP00000017950;OTTHUMP00000017951;bA487F5.1;excitatory amino acid receptor 4;gluR-6;glutamate receptor 6;glutamate receptor form A;glutamate receptor form B;glutamate receptor form C;glutamate receptor form D;glutamate receptor form E;glutamate receptor ionotropic, kainate 2;glutamate receptor, ionotropic kainate 2 APPROVED protein-coding ENSG00000164418 4580 00692 138244;611092 REVIEWED 733821 GRIA4 glutamate receptor, ionotropic, AMPA 4 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008] 11 11 q22 104986010 105358029 + 105480800 105852819 + 1358642;1580863;6480464;6907045 12497607 8589990;19156168;19125103;19086053;18521090;18163426;17233759;16344560;16190873;15823042;15450689;15306133;12603841;12574408;12477932;12471040;12393905;12125045;11891216;11140673;10688364;10366608;9466455;8889548;8163463;7992055;7518497;1319477;10027300;12172541;16055064;17409242;18311135;19217372;19573479;9481670;9648857;20859245;22094384;22122651;22057216;23396134 2893 E9PJZ5;E9PQN1;E9PQY1;G3V164;H0YDL4;P48058;Q1WWK6 AB115416;AB209092;ABBA01039900;ABBA01039901;ABBA01039902;AK311193;AMYH01004006;AMYH01004007;AP000641;AP000673;AP000813;AP001023;AP001561;BC015199;BC035610;BC045546;BC114549;BC142654;BC146816;BC150209;BM675457;BM723114;CH471065;DA077870;DA391203;DB298333;DB305322;DB473702;DB548729;FJ947075;FJ947076;NM_000829;NM_001077243;NM_001077244;NM_001112812;NR_046356;U16129 AAA95962;AAH45546;AAI14550;AAI42655;AAI46817;AAI50210;AAI67786;ACR45952;ACR45953;BAD23796;BAD92329;EAW67066;EAW67067;EAW67068;EAW67069;NP_000820;NP_001070711;NP_001070712;NP_001106283;P48058 Hs.503743 1299908;1341969;1645722;1647390;1648081;1650928;1652785;1654565;1662310;1685670;1689107;1690388;1696066;1704692;1720875;1723073;1732225;1736172;1737203;1737221;1752337;1755285;1771377;1787882;1789002;2113502;2128379;2128381;2165934;2173329;5106981;5127981;7186687 BZ904394;D11S1325;D11S1816;D11S2000;D11S2275E;D11S3070;D11S3084;D11S4039;D11S4621;G17587;G17613;G27433;G30957;G59265;G65580;RH11819;RH121888;RH12402;RH27781;RH91882;RH99092;SGC30893;SHGC-106294;SHGC-142178;SHGC-152865;SHGC-173555;SHGC-31826;SHGC-36942;SHGC-79000;SHGC-83229;WI-20616;WI-21644 GLUR4;GLUR4C;GLURD;GluA4 AMPA-selective glutamate receptor 4;OTTHUMP00000232267;OTTHUMP00000232271;OTTHUMP00000232273;OTTHUMP00000232274;gluR-4;gluR-D;glutamate receptor 4;glutamate receptor ionotropic, AMPA 4;glutamate receptor, ionotrophic, AMPA 4;glutamate receptor, ionotropic, 4 APPROVED protein-coding ENSG00000152578 4574 00694 138246 REVIEWED 733741 GRIK4 glutamate receptor, ionotropic, kainate 4 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. [provided by RefSeq, Jul 2008] 11 11 q22.3 120036238 120362179 + 120531028 120856969 + 1580863;6480464;6907045 19125103;19086053;18824690;18289755;16819533;16325263;12954862;12477932;11334999;8288598;7527545;8263508;19384319;19328558;20859245;19342380;19924111;20110084;20125193;20201926;20379614;21215464;22052594;15782196;14617813 2900 Q16099;Q3C1X2 AB231709;ABBA01031313;ABBA01031314;ABBA01031315;ABBA01039649;ABBA01039650;ABBA01039651;AK292726;AK314284;AMYH01004091;AP000796;AP001929;AP002348;AP004147;BC146652;BC150173;CH471065;NM_014619;S67803 AAB29311;AAI46653;AAI50174;BAE46875;BAF85415;BAG36943;EAW67511;EAW67512;NP_055434;Q16099 Hs.568901 1335070;1337255;1687355;1688205;1731557;1731563;1737141;1737883;1782268;2123279;2146735;5021980;7187490 D11S1263;D11S1265;D11S1774;D11S2999;D11S3484;D11S4460;D11S925;RH27747;RH27748;SHGC-112055;WI-9274;contig_77245 EAA1;GRIK;GluK4;KA1 OTTHUMP00000045951;OTTHUMP00000231881;excitatory amino acid receptor 1;glutamate receptor KA-1;glutamate receptor KA1;glutamate receptor ionotropic, kainate 4;glutamate receptor, ionotropic kainate 4 APPROVED protein-coding 4582 02613 600282 REVIEWED 736076 GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 17 17 q25.1 70349759 70367602 - 72838168 72856007 - 704404;1580863;6480464;6907045 9798920;19156168;18444252;14644469;12775422;12477932;12414113;12082569;11937501;11606043;11483648;10479680;10197777;9651389;9647694;9480759;9037519;8267632;7695237;7569905;1350383;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;16697675;16489129;11278603;12815021;19874574;8665664;9694864;18029348;22833210;8889548;10648872;10943672;11854440;15123239;15287897;15494561;15920498;16606616;19477150;20976280;20981015;21152063;21807990;21919190;22197913;22245680;22343826;17360663;19020013;19036954;19526283;21491143;21670103;21948112;22114277;22552781;22940423 2905 H0Y2V8;O15398;Q14957 AB208799;ABBA01028826;ABBA01028827;AC068874;AMYH01008627;BC031077;BC041128;BC059384;BC140801;BC144586;BM686026;CH471099;L76224;NM_000835;NM_001278553;NR_103735;U77782 AAA88096;AAB71624;AAH31077;AAH41128;AAH59384;AAI40802;BAD92036;EAW89202;EAW89203;EAW89204;NP_000826;NP_001265482;Q14957 Hs.436980 GluN2C;NMDAR2C;NR2C N-methyl D-aspartate receptor subtype 2C;N-methyl-D-aspartate receptor subunit 2C;OTTHUMP00000041930;glutamate [NMDA] receptor subunit epsilon-3;glutamate receptor ionotropic, NMDA 2C;glutamate receptor, ionotropic, nmda2c APPROVED protein-coding ENSG00000161509 4587 00699 138254 REVIEWED 731784 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 9 9 q34.3 139153430 139183029 + 140033609 140063214 + 727540;704404;1580863;1642190;1642372;2326049;2325954;6480464;6907045;7240705 1350383;16477151;14573320;19144756;19761817;22717267 7679115;7685113;17047094;18445116;10480938;10749211;19328558;19156168;19095845;18991843;18990687;18792810;18644839;18606955;18296432;18182392;18068304;17728671;17506933;17284422;17255096;16969270;16767099;16476413;16332682;16289038;16272960;16189506;16140270;15888440;15841096;15635650;15564900;15531111;15448144;15338240;15265015;15030493;15030408;14973229;14970236;14732708;14644469;14575242;12893641;12775422;12753088;12746393;12707933;12679240;12646920;12610658;12414113;12408866;12363394;12210277;12191494;12082569;12068077;11803122;11754835;11606043;11588171;11506858;11483648;11160393;11140838;11136979;11109007;10862698;10518580;10197777;10049997;9952395;9835392;9728925;9670010;9651389;9620802;9502803;9482789;9425014;9231706;9030583;9009191;8783260;8768735;8625412;8406459;8406025;8316301;8139656;7926821;7695237;7681588;7622053;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;16697675;16489129;12391275;12008020;11140673;15069201;11279200;15721239;22354721;20722663;20097831;20414717;20634195;19422642;19784770;10373510;12815021;14622581;17997397;19488045;19602553;19635471;19874574;20007519;20237496;20438806;20468064;8615909;8665664;8889548;9481670;22952988;22937865;20974228;22196339;21753020;22383529;20848605;22300668;22711533;22889411;22726567;22833210;22040728;22486492;17360663;19020013;19036954;19526283;21491143;21670103;21948112;22114277;22448134;22552781;22940423 2902 A2AVK2;Q59GW0;Q5VSF4;Q5VSF9 AB208918;AB208999;ABBA01022747;AF015730;AF015731;AL929554;AMYH01021891;AMYH01021892;AMYH01021893;BU728516;CH471090;D13515;L05666;L13266;L13267;L13268;NG_011507;NM_000832;NM_001185090;NM_001185091;NM_007327;NM_021569;S57708;U08106;U08107 AAA21180;AAA36198;AAA62111;AAA62112;AAB25917;AAB59360;AAB59361;AAB67723;AAB67724;AAI56098;AAI56962;BAA02732;BAD92155;BAD92236;EAW88350;EAW88351;EAW88352;EAW88353;EAW88354;EAW88355;EAW88356;EAW88357;EAW88358;EAW88359;EAW88360;NP_000823;NP_001172019;NP_001172020;NP_015566;NP_067544;Q05586 Hs.558334 5117228 GDB:451867 GluN1;MRD8;NMDA1;NMDAR1;NR1 N-methyl-D-aspartate receptor channel, subunit zeta-1;N-methyl-D-aspartate receptor subunit NR1;NMD-R1;OTTHUMP00000022673;OTTHUMP00000022674;OTTHUMP00000022675;OTTHUMP00000022676;OTTHUMP00000022677;OTTHUMP00000022678;OTTHUMP00000022679;OTTHUMP00000165923;glutamate [NMDA] receptor subunit zeta 1;glutamate [NMDA] receptor subunit zeta-1;glutamate receptor ionotropic, NMDA 1 APPROVED protein-coding ENSG00000176884 4584 15926 138249;614254 REVIEWED 732718 GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010] 19 19 q13.33 53589944 53640000 + 48898132 48948188 + 1580863;737806;2325945;6480464;6907045 8774946;19856012 17474147;9480759;19156168;19125103;18444252;16328341;16094258;14644469;12775422;12414113;12191494;12082569;11606043;11483648;10862698;10777567;10479680;10216082;10197777;9651389;9647694;9489750;9418891;9258910;8613785;7695237;7569905;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;16697675;16489129;10373510;12815021;14622581;8615909;8665664;9481670;21963094;22833210;21890473;21906983;21915661;17360663;19020013;19036954;19526283;21491143;21670103;21948112;22114277;22552781;22940423;22486492 2906 O15399;Q59G17 AB007621;AB209292;ABBA01032990;ABBA01032991;ABBA01032992;ABBA01032993;ABBA01032994;ABBA01032995;ABBA01032996;ABBA01032997;ABBA01032998;AC008403;AC011527;AMYH01009900;AMYH01009901;AMYH01009902;AW139866;CH471177;NM_000836;U77783 AAC15910;BAD92529;EAW52346;NP_000827;O15399 Hs.445015 1688488 RH92449 EB11;GluN2D;NMDAR2D;NR2D N-methyl D-aspartate receptor subtype 2D;N-methyl-d-aspartate receptor subunit 2D;estrogen receptor binding CpG island;glutamate [NMDA] receptor subunit epsilon-4;glutamate receptor ionotropic, NMDA 2D APPROVED protein-coding ENSG00000105464 4588 04095 602717 REVIEWED 1353575 GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 19 19 p13.3 951437 960723 + 1000437 1009723 + 1580863;632842;6480464;6907045 11823786 7695237;11735224;19156168;17687115;17543277;15722182;15057824;11717388;8889548;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;16489129;14644469;12775422;12414113;11606043;11483648;10197777;9651389;12008020;20016182;20153313;20398908;7569905;19526283;21491143;21948112;22114277;22552781;22940423 116444 O60391;Q5F0I5 ABBA01002616;ABBA01002617;AC004528;AMYH01009217;AMYH01009218;AMYH01009219;AX223863;AY507106;AY507107;BK000070;BK004079;CB243197;CH471139;NM_138690;XM_003403700 AAC12680;AAI56391;AAS87020;AAS87021;CAC69380;DAA00018;DAA04570;EAW69576;NP_619635;O60391;XP_003403748 Hs.660378 1338063;2171945 D19S886;SGC32341 GluN3B;NR3B N-methyl-D-aspartate receptor subtype 3B;NMDA receptor subunit 3B;NMDA type glutamate receptor subunit NR3B;NMDAR3B;OTTHUMP00000042007;glutamate [NMDA] receptor subunit 3B;glutamate receptor ionotropic, NMDA 3B protein-coding ENSG00000116032 16768 606651 PROVISIONAL 730907 GRIK5 glutamate receptor, ionotropic, kainate 5 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. [provided by RefSeq, Jul 2008] 19 19 q13.2 47194313 47261797 - 42502468 42569957 - 734533;1358334;1580863;2316538;625595;5147998;6480464;2316528;6907045 7527545;9259378;9848088;12080343;11226670;17639597 1321949;19125103;19086053;18247129;16325263;15254951;14511640;12573530;12477932;11279111;9808460;9466455;9099808;9039653;8288598;16169070;19342380;21771265;23288040 2901 M0QXF6;Q16478 ABBA01040828;ABBA01040829;ABBA01040830;ABBA01040831;ABBA01040832;ABBA01040833;AC010616;AC020946;AC022515;AMYH01009824;BC037358;BC052975;BC131717;CA432656;CH471126;NM_002088;S40369 AAB22591;AAI68375;EAW57090;EAW57091;NP_002079;Q16478 Hs.367799 1758349;2108783;2126709 GRIK5_3042;SHGC-148130;UniSTS:496047 EAA2;GRIK2;GluK5;KA2 excitatory amino acid receptor 2;glutamate receptor KA-2;glutamate receptor KA2;glutamate receptor ionotropic, kainate 5;glutamate receptor, ionotropic kainate 5 APPROVED protein-coding ENSG00000105737 4583 02614 600283 REVIEWED 1354510 GRIP2 glutamate receptor interacting protein 2 3 3 3 p24-p23 14468851 14521806 - 14510177 14558592 - 14530619 14583588 - 1580863;6480464 17474147;14702039;12168954;11641419;11214971;11214970;10574462;9110174;8619474;12629171;12923177;12458226;16055064;19734545;20379614;9768844;16713569 80852 Q9C0E4 AB051506;ABBA01025158;AC090952;AF052177;AK024507;AK074145;AK095762;AMYH01012996;NM_001080423 BAB15797;BAB21810;BAB84971;NP_001073892;Q9C0E4 Hs.517819 1699094;1734264 D3S2754E;RH103123 GRIP-2;glutamate receptor-interacting protein 2 protein-coding 23841 VALIDATED 1606337 GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 8 8 q24.3 145136214 145139571 + 145064226 145067583 + 6480464 16341674;12761501;12477932;8786101;8406459;1719427;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;18440869;20837469;22240901;10197777;11483648;11606043;12414113;12775422;14644469;16489129;19526283;21948112;22114277;22552781;7695237;9651389 2907 E9PPG3;E9PQF8;H0YC98;H0YCP9;H0YEI4;Q7Z429 AB097026;ABBA01005229;ABBA01005230;ABBA01005231;ABBA01005232;ABBA01005233;AC109322;AK127640;AK294127;AL157442;AMYH01019123;BC041788;BC065834;BC084553;BM762447;BQ682451;CH471416;HB925977;HB937983;HB942716;HB954087;HB966685;HC983386;HC995392;HD000126;HD011497;HD024095;NM_000837;NM_001009184;U44954 AAB94292;AAH41788;AAH84553;BAC77379;BAG54539;BAG57457;CAB75662;CBF97932;CBG03816;CBG06126;CBG11699;CBG17985;CBV11452;CBV17338;CBV19648;CBV25213;CBV31340;EAW52304;EAW52305;EAW52306;NP_000828;NP_001009184;Q7Z429 Hs.594634 1679563;1779448 RH80294;SHGC-153430 HNRGW;LFG1;MGC99687;NMDARA1;TMBIM3 NMDA receptor glutamate-binding subunit;OTTHUMP00000229746;OTTHUMP00000229747;OTTHUMP00000229749;OTTHUMP00000229750;glutamate [NMDA] receptor-associated protein 1;glutamate receptor, NMDA subtype, glutamate-binding subunit;protein lifeguard 1;putative MAPK-activating protein PM02;transmembrane BAX inhibitor motif containing 3;transmembrane BAX inhibitor motif-containing protein 3 protein-coding ENSG00000178719 4589 15927 138251 VALIDATED 733376 GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008] 9 9 q31.1 103371456 103540683 - 104331634 104500862 - 1642190;6480464;6907045 16477151 7695237;17502428;17320117;17997397;18445116;17658481;11880201;19386922;19295509;19156168;19086053;18649358;18296432;18075478;17617428;17214563;17047094;14760703;14684485;14644469;12775422;12477932;12414113;12391275;11853319;11735224;11606043;11588171;11483648;11160393;10197777;9651389;9620802;22914463;18239623;7569905;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;16489129;19913121;20628086;19488045;19665356;20016182;20084518;20379614;17082780;21152063;21429969;21135540;22118674;22801082;23251661;23400010;19526283;21491143;21948112;22114277;22552781;22940423 116443 Q8TCU5 AB075853;ABBA01042870;ABBA01042871;ABBA01042872;AF416558;AJ416950;AK127342;AL137422;AL356516;AL359651;AL591377;AMYH01021580;BC029757;BC132866;BC132868;BC167432;CH471105;HH956596;NM_133445 AAI32867;AAI32869;AAI67432;AAL40734;BAB85559;CAC95229;CBX51242;EAW58958;EAW58959;EAW58960;NP_597702;Q8TCU5 Hs.654783 1683429;1708250;1708960;1710484;1735916;1753631;1764477;1778538;1795952;2178582 D9S1054E;G10443;GRIN3A_972;RH91980;SHGC-107521;SHGC-148080;SHGC-79388;SHGC-79539;SHGC-86259;WI-14669 FLJ45414;GluN3A;NMDAR-L;NR3A N-methyl-D-aspartate receptor subtype 3A;NMDAR3A;OTTHUMP00000021814;glutamate [NMDA] receptor subunit 3A;glutamate receptor ionotropic, NMDA 3A APPROVED protein-coding ENSG00000198785 16767 09443 606650 REVIEWED 731079 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq, Jul 2008] 12 12 p12 13605411 14024319 - 13714410 14133022 - 727540;704404;1580863;1642197;1642200;1642201;1642204;1642207;1642190;1642372;4107024;2325954;2325284;2326049;4107020;2325867;2326032;2326034;4107025;6480464;6484113;6907045;7240705;7240704 1350383;17224684;16911840;16549338;17655746;16904707;16477151;14573320;20079352;19761817;18237558;19144756;20237303;20350575;19208366;19154779;20056114;22717267;22334212 8768735;17047094;17997397;18445116;10480938;19605943;19591125;19562769;19523047;19453375;19367581;19350219;19328558;19324536;19279257;19268276;19156168;19095845;19088076;19086053;19011431;19005876;18991843;18983893;18606955;18303265;18068304;18007143;17962190;17942280;17669510;17620329;17569088;17506987;17506933;17255096;17010153;16870468;16766085;16436603;16380905;16289038;16266783;16120608;15866054;15841096;15812607;15742215;15673434;15542698;15489334;20848605;15083261;15030493;14662797;14644469;12893641;12890763;12857875;12824739;12775422;12753378;12738960;12650977;12556902;12531901;12524444;12477932;12476325;12414113;12391275;12191494;12147342;12127670;12082569;11997254;11979061;11956967;15211626;15180478;11937501;11844890;11807413;11799243;11679592;11606043;11588171;11483655;11483648;11459059;11317224;11306676;11029657;11024032;10884433;10846184;10748157;10620012;10488080;10485705;10479680;10458595;10381539;10341223;10197777;9806853;9651389;9647694;9620694;9581762;9547169;9427503;9326658;9231720;9009191;8940188;8780649;8601796;8163463;8139656;7999784;7959773;7695237;7569905;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8804048;8724036;8581564;8563977;16697675;16489129;9278515;11278603;15721239;20175224;19192303;10373510;12815021;14622581;15254094;16990796;18583979;19167335;19726645;19734545;19874574;20197096;20201926;20379614;20399867;20438806;20464528;20468064;20537720;8615909;8665664;9481670;20421849;19336002;20427279;20347576;18836292;20890276;21116278;19784770;20859245;20882066;20945430;20957330;20939817;20537986;21597037;21639937;21789901;23201971;21704719;21827795;21749895;21919190;21753020;22578441;21782286;22116950;22610502;22711533;11723117;22610100;22936815;22833210;9670010;22326929;22433450;22479519;23377640;22832729;22986046;22484476;22742935;17360663;19020013;19036954;19526283;21491143;21670103;21948112;22114277;22142193;22552781;22833681;22940423 2904 Q13224;Q59HA9 AB208850;ABBA01067860;ABBA01067861;ABBA01067862;ABBA01067863;AC007397;AC007535;AC007784;AC007916;AMYH01004297;AMYH01004298;AMYH01004299;BC113618;BC113620;CH471094;NG_031854;NM_000834;U11287;U28758;U28861;U28862;U88963;U90278 AAA69919;AAA69920;AAA74930;AAB49993;AAB60368;AAD00659;AAI13619;AAI13621;BAD92087;EAW96311;NP_000825;Q13224 Hs.654430 1696116;1716485;1722517;1725895;1736870;1757579;1767186;1774932;1795950;2113992;2114384;2124260;2148781;2158015;2167086;7184031 D12S1274;D12S1946;D12S2089;D12S364;D12S847;G11784;G41299;G41304;G60183;G62303;GRIN2B;GRIN2B_968;RH121528;SHGC-145043;SHGC-78950;WI-18930 GluN2B;MGC142178;MGC142180;MRD6;NMDAR2B;NR2B;hNR3 N-methyl D-aspartate receptor subtype 2B;N-methyl-D-aspartate receptor subunit 3;NR3;OTTHUMP00000174410;glutamate [NMDA] receptor subunit epsilon-2;glutamate receptor ionotropic, NMDA 2B;glutamate receptor subunit epsilon-2 APPROVED protein-coding ENSG00000150086 4586 00697 138252;613970 REVIEWED 732269 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate-gated ion channels. These receptors have been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C) and NMDAR2D (GRIN2D). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 16 16 p13.2 9762923 10184112 - 9847265 10276611 - 1358644;734740;704404;1580863;1642190;1642204;1642198;1642207;2326049;2325954;2325284;4107070;2325867;2325949;2325963;6480464;6480428;6484113;6907045;7240705 12809987;14502288;16477151;17655746;17011703;16904707;19144756;19761817;18237558;20398734;20350575;19837828;19660546;18534564;22717267 7524031;8768735;17997397;18445116;10480938;18029348;19352218;19268276;19156168;19088076;19086053;19058789;18991843;18990687;18606955;18178157;17942280;17922030;17569088;17519952;17433503;17255096;17105731;17081983;17018562;16637659;16476413;16266783;15888440;15830322;15774266;15742215;14966475;14732708;14702039;14699423;14644469;12956718;12933808;12932824;12893641;12890763;12775422;12724619;12697264;12531901;12477932;12419528;12414113;12391275;12191494;12147342;12127670;12082569;12070168;12068077;12008020;11985816;11937501;11854440;11803122;11675505;11606043;11483648;11478920;11222640;11104776;10884433;10862698;10846184;10748123;10648730;10479680;10458595;10336672;10197777;10195142;9651389;9647694;9480759;9286858;9231720;8601796;8267632;8163463;8139656;8061049;7816096;7695237;7569905;1350383;16481105;10555109;9745929;15749123;10448428;8955056;8845955;8822372;8821747;8724036;8581564;8563977;16697675;16489129;12576483;9278515;9892651;12923170;15681389;11279200;8804048;20677014;10373510;12815021;14622581;15254094;16990796;18570704;19834457;19874574;20041166;20070378;20148871;20379614;20398908;20468064;8615909;8665664;9481670;20448061;20890276;21499247;21152063;21371516;21883175;21906983;22004137;20848605;21876681;21507155;22833210;9670010;23400010;23453885;22486492;17360663;19020013;19036954;19526283;20094923;21491143;21670103;21948112;22114277;22142193;22552781;22940423 2903 B4DII7;F5GZ52;Q12879;Q547U9;Q59EW6 AB209695;ABBA01006782;ABBA01019754;ABBA01019755;ABBA01019756;AC006531;AC007218;AC022168;AC026423;AC133565;AF443868;AK124698;AK295620;AK308862;AMYH01007145;AMYH01007146;AMYH01007147;BC117131;BC143273;CH471112;CR749843;NG_011812;NM_000833;NM_001134407;NM_001134408;R43097;U07199;U09002;U90277 AAB49992;AAB60343;AAI17132;AAI43274;AAN75825;ADR83436;BAD92932;BAG58499;EAW85187;NP_000824;NP_001127879;NP_001127880;Q12879 Hs.411472 1298187;1337715;1340192;1648065;1659081;1674727;1674910;1678881;1679634;1704542;1729003;1736604;1736622;1749885;1766335;1795948;1852123;2120034;2132973;2146305;2147544;2164051;2164684;2172467;2179356;7183777;7184445 D16S2596E;D16S2599E;D16S2608E;D16S2952;D16S3064;D16S3126;D16S3187;D16S3229;D16S407;D16S732;G01525;G10721;G17910;GRIN2A_118;Grin2a;RH15627;RH15641;RH69953;RH91712;RH98186;SHGC-111612;SHGC-12942;SHGC-149675;SHGC-18386;SHGC-83077 EPND;GluN2A;NMDAR2A;NR2A N-methyl D-aspartate receptor subtype 2A;N-methyl-D-aspartate receptor channel, subunit epsilon-1;N-methyl-D-aspartate receptor subunit 2A;NMDA receptor subtype 2A;OTTHUMP00000160135;OTTHUMP00000174531;glutamate [NMDA] receptor subunit epsilon-1;glutamate receptor ionotropic, NMDA 2A;hNR2A APPROVED protein-coding ENSG00000183454 4585 00698 138253;613971 REVIEWED 1344318 GRK6P1 G protein-coupled receptor kinase 6 pseudogene 1 13 13 13 q12.11 2954853 2957516 + 20791191 20793807 + 21893166 21895829 + 9016947;7789183 2871 ABBA01068604;AL139380;AMYH01004957;NG_001133;U48958 1738393;2123281 D13S662E;WI-18758 GPRK6L;GPRK6P;GRK6PS APPROVED pseudo 4547 INFERRED 1345662 GRIP1 glutamate receptor interacting protein 1 This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] 12 12 q14.3 65029066 65359020 - 66741211 67072925 - 632959;1580863;6480464 10197531 15572661;19086053;19074285;18950845;18499756;18155042;17303296;16649994;16541075;16344550;15557560;15226318;14702039;12477932;12114525;12060666;12011465;11641419;12458226;10896157;11891216;12597860;10652338;10607837;11477071;12571287;11438648;14726489;17426288;17631495;17882261;21383172;20877300;18315564;14966289;16055064;16344560;16362036;19736351;19805480;20379614;9883737;11983685;11997499;15347661;15471871;15731352;16423881;16461774;17257825;10379889;11027271;9773983;9849963;16990252;16957778;21292004;17336575;15231748;23462962;18311135;22510445 23426 F5H3F9;F5H3G9;F5H424;F5H4M4;F5H4N6;F5H4P8;F5H4Q7;F5H5I0;H0YFK8;H0YFY3;H0YGF1;H0YGM4;Q9Y3R0 ABBA01026572;ABBA01026573;ABBA01026574;AC022508;AC078888;AC078889;AC090710;AC122686;AC135251;AI190011;AJ133439;AK095519;AK295565;AK307576;AMYH01004554;AMYH01004555;AMYH01004556;BC029871;BC115393;BC115394;DA801887;NG_021400;NM_001178074;NM_021150 AAI15394;AAI15395;BAG58465;CAB39895;NP_001171545;NP_066973;Q9Y3R0 Hs.505946 1649060;1662117;1673667;1704128;1704272;1710376;1739695;1746737;1746913;1782596;2176338;2184182;2217386;5091217 D12S1461;D12S1485;G17669;G64817;G64820;GRIP1_3128;SGC30924;SHGC-141905;SHGC-30860;SHGC-79745;SHGC-82457;SHGC-83274;WI-21115;WIAF-2203 GRIP OTTHUMP00000239944;OTTHUMP00000239945;OTTHUMP00000239946;OTTHUMP00000239947;OTTHUMP00000239969;glutamate receptor-interacting protein 1 APPROVED protein-coding ENSG00000155974 18708 604597 REVIEWED 1347561 GRK7 G protein-coupled receptor kinase 7 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008] 3 3 3 q24 139920491 139959301 + 142979733 143018582 + 141497043 141535892 + 1580863;6480464;6893555;6907045 21903131 18266817;15946941;15087239;12601058;11754336;11717351;19913121;20628086;16473576;20379614;19953087;22183412 131890 Q8WTQ7 ABBA01059039;AC112504;AF282269;AF439409;AMYH01013543;CH471052;NM_139209 AAI48328;AAI52978;AAL33880;AAL48216;EAW78990;NP_631948;Q8WTQ7 Hs.680654 5037552 D8S2279 GPRK7 G protein-coupled receptor kinase 7;OTTHUMP00000214002;g protein-coupled receptor kinase GRK7 APPROVED protein-coding 17031 07378 606987 REVIEWED 1345543 GRK1 G protein-coupled receptor kinase 1 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008] 13 13 q34 113369595 113373975 + 114321594 114325974 + 1580863;1600000;1600001;1600002;1600004;2298875;2298876;6480464;6893555;6907045;7240710 9020843;15939031;12456492;10549637;11872041;18245565;21903131 17524610;1656454;9147475;18266817;17765441;16478881;17070587;16407241;16319817;15946941;12939331;11910029;11717351;11498053;11394879;10085129;9753452;9501174;9478965;9419375;9268593;9099669;8889548;8812493;8617805;1527025;10852916;12477932;16473576;19753316;15057823;22959359;21922265;22183412;22623531 6011 F5H210;Q15835 ABBA01015953;ABBA01019874;AC187648;AF019764;AF019765;AK289912;AMYH01005404;AY327580;BC140945;BM702747;BX537316;BX647503;CH471085;L77502;L77503;NM_002929;U63973 AAB05929;AAC97160;AAC97161;AAG50439;AAI40946;AAQ94192;AAT00534;BAF82601;EAX09222;NP_002920;Q15835 Hs.103501;Hs.721727 1711452;2141048 G46170;RH47014 GPRK1;RHOK;RK rhodopsin kinase APPROVED protein-coding ENSG00000185974 10013 01585 180381;613411 REVIEWED 732724 GRIPAP1 GRIP1 associated protein 1 This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). In brain studies, the encoded protein was found with the GRIP/AMPA receptor complex. Multiple alternatively spliced transcript variants have been described that encode different protein isoforms; however, the full-length nature and biological validity of all of these variants have not been determined.[provided by RefSeq, Nov 2009] X X X p11 52807255 52833383 + 48715078 48743619 - 48830134 48858675 - 632892;6480464 10896157 15761153;15507123;17761173;15897011;15772651;15489334;12571287;12477932;12207967;11891216;11704662;11230166;10574461;16169070;22863883;21139048;21890473;21906983;22779921 56850 B1B0M1;Q9NQ43 AA679202;AB032993;ABBA01046091;ABBA01046092;ABBA01046093;ABBA01046094;ABBA01046095;ABBA01046096;AC233294;AF207550;AJ297364;AK292158;AL136847;AMYH01022291;BC001522;BC101544;BC101546;BC110636;BX530088;BX640704;BX647801;BX647804;CD109978;CH471224;NG_016263;NM_020137;NM_207672 AAH01522;AAI01545;AAI01547;ABM83652;ABW03542;BAA86481;BAF84847;CAB95949;CAE45824;CAI45985;EAW50715;EAW50716;EAW50717;EAW50718;EAW50719;NP_064522;NP_997555;Q4V328 Hs.109929 1701186;2159650;2176938;2177872;2191625;5020948;5022200;5022588;5022651;5037552 D11S2921;D5S1597E;D8S2279;DXS8227;G35510;L18426;MARC_3154-3155:996679049:1;RH104221;SHGC-34673;STS-R98433 DKFZp434P0630;GRASP-1;KIAA1167;MGC126593;MGC126595 GRIP1-associated protein 1;MPMGp800B12492Q3;OTTHUMP00000031960;OTTHUMP00000031961;OTTHUMP00000031962;OTTHUMP00000031963;grip-associated protein 1 APPROVED protein-coding ENSG00000068400 18706 02325 300408 REVIEWED 736303 GRM1 glutamate receptor, metabotropic 1 This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 6 6 q24 146392112 146800427 + 146348782 146758731 + 704404;1580863;6480464;5147998;6907045 11226670 7476890;9076744;19295155;19156168;19146831;18059092;17609672;17430891;17332361;16091361;15949941;15945063;15870073;15745950;15660124;15466247;15383311;15330338;15184389;15155843;14574404;12704387;12477932;12444084;11961143;11961129;11951051;11905408;11850456;11847215;11535235;11278325;11076863;10945991;10828618;10823959;10530810;10349865;10202136;9886087;9808459;9808458;9651375;9582347;9488690;9376535;9069287;8824806;16697675;16489129;14614461;19913121;20628086;21559497;20149785;20705606;20859245;15452121;19571223;19717561;19843246;19874574;19924463;20379614;20464528;20180987;20864408;22771868;22901947;22894836;23175844;22798429;22520513;22448230;21558162;21962378;22460132;21681448;22169210;11672421;16847639;23303475;23481697;23620748;8838462;9776379;17678970;20034999 2911 F8W805;Q59HC2;Q9UGS9 AB208837;ABBA01025722;ABBA01025723;ABBA01025724;ABBA01025725;AK308550;AL031769;AL035698;AL096867;AL592423;AMYH01016727;BC136280;BC143777;BC143779;CH471051;L76627;L76631;NG_012839;NM_000838;NM_001114329;NM_001278064;NM_001278065;NM_001278066;NM_001278067;U31215;U31216 AAA87843;AAA87844;AAB05337;AAB05338;AAI11845;AAI36281;BAD92074;EAW47834;EAW47835;NP_000829;NP_001107801;NP_001264993;NP_001264994;NP_001264995;NP_001264996;Q13255 Hs.32945 1335714;1338192;1341037;1649050;1695352;1703280;1715609;1717079;1720337;2116621;2122022;2124079;2130173;2149165;2160348;2168641;5018001 AL021851;D6S1042;D6S1342;D6S1480;D6S1649;D6S971;FRA23;G10437;G29866;G48324;RH120949;RH121456;RH123919;RH37583;RH79141;SHGC-35565;SHGC-68263 GPRC1A;GRM1A;MGLUR1;MGLUR1A;SCAR13;mGlu1 OTTHUMP00000017365;OTTHUMP00000017366;OTTHUMP00000222175;OTTHUMP00000222176;metabotropic glutamate receptor 1 APPROVED protein-coding ENSG00000152822 4593 05129 604473;614831 REVIEWED 1606583 GRK4 G protein-coupled receptor kinase 4 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. [provided by RefSeq, Jul 2008] 4 4 p16.3 2935141 3012272 + 2965343 3042474 + 6480464;6907045;7207060 15637145 1338872;19119263;18711008;18711006;18413491;18190783;17259440;17044852;16940246;16636198;16461192;16338988;15815621;15489334;15097232;12881416;12477932;12446468;12164861;11517230;10379886;9092566;8889548;8626439;8135832;21544086;8125298;19520868;19842931;19948975;20308035;20424473;20448640;20537417;20098747;20153824;19913121;20577119;20628086;22939624;23195037;21890473;19953087;22639547 2868 B4DEC9;D6REW5;Q15313 ABBA01029478;ABBA01029479;ABBA01029480;ABBA01029481;ABBA01029482;AK223581;AK292390;AL390065;AMYH01013886;BC027597;BC117320;BI465220;BM725978;CH471131;L03718;NG_029102;NM_001004056;NM_001004057;NM_182982;U33054;U33055;U33056;U33168;X75897;X97879;X97880;X97881;X98118;Z68192 AAB04045;AAC50406;AAC50407;AAC50408;AAC50409;AAC50410;AAC50411;AAC50412;AAI17321;ADR83217;BAD97301;BAF85079;CAA53506;CAA66468;CAA66469;CAA66470;CAA66802;CAA92341;EAW82479;EAW82480;EAW82481;EAW82482;EAW82483;EAW82484;EAW82485;NP_001004056;NP_001004057;NP_892027;P32298 Hs.32959 1673149;1729801;1768491;1776621;5023262;5120283;7184662;7184861 D4S127;D4S95;GDB:230300;RH70602;SHGC-67218;STS-AA024498;STS-N23898 GPRK2L;GPRK4;GRK4a;IT11 G protein-coupled receptor kinase 2-like;G protein-coupled receptor kinase 4;G-protein coupled receptor kinase 4;ITI1;OTTHUMP00000216992;OTTHUMP00000216993;OTTHUMP00000216995;OTTHUMP00000221010;g protein-coupled receptor kinase GRK4 APPROVED protein-coding ENSG00000125388 4543 00656 137026 REVIEWED 6481337 GRM5-AS1 GRM5 antisense RNA 1 11 88237744 88257222 + 100873989 ABBA01011533;AMYH01003864;AP003120;NR_049724 Hs.616625 APPROVED miscrna ENSG00000255082 40265 VALIDATED 732930 GRM2 glutamate receptor, metabotropic 2 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.2 51718004 51727669 + 51741081 51752629 + 1580863;704404;6480464;6907045 21881873;7620613;19386277;19367581;19156168;19086053;19026996;18853337;18297054;16678921;16344560;15837331;15489334;15330338;15246118;12477932;11897108;11840499;11641422;11317221;9651375;8863838;8824806;15035981;11850456;19402024;19635471;19945495;20211215;21173788;22988116;23407939;23129762;22870276;23149219 2912 C9JD41;C9JL63;H7BXL3;Q14416;Q86YG3 AB045011;AB209164;ABBA01024520;ABBA01024521;AC099050;AK289984;AK313056;AK315816;AMYH01013180;AY999299;BC041447;BC113615;BC113619;BX648951;CH471055;DA391442;EU432122;L35318;NM_000839;NM_001130063 AAA76855;AAH41447;AAI13616;AAI13620;AAY14640;ABY87921;ADR83425;BAB19817;BAD92401;BAF82673;BAF98707;EAW65150;NP_000830;NP_001123535;Q14416 Hs.121510 1655280;1774960;1848696;2190603;5126641 A002C19;GRM2;RH66405;SHGC-77001;WI-20087 GLUR2;GPRC1B;MGLUR2;mGlu2 OTTHUMP00000210984;OTTHUMP00000210986;glutamate metabotropic receptor 2;glutamate receptor homolog;metabotropic glutamate receptor 2 APPROVED protein-coding ENSG00000164082 4594 04977 604099 REVIEWED 1348499 GRK5 G protein-coupled receptor kinase 5 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008] 10 10 q26.11 120957187 121205121 + 120967197 121215131 + 1580863;4140391;5133417;5688382;5688353;5688375;5688380;5688385;5688378;5688384;5688355;5688373;5685370;6480464;6907045;5135529 19110970;16304060;21046632;22074755;18522748;10094932;14565944;16849637;17125886;20945396;18662895;17996024;19229505 9813065;17986524;8626574;8288567;7685906;19092051;19008357;18855542;18622265;18425130;18034461;15542828;15489334;15146197;14976207;14691047;12507501;12477932;12067742;11700307;11517230;11504827;10858434;10852916;10617630;10467231;10085129;9826657;8889548;8662852;8662816;8144599;7789183;10625670;9211925;9092566;21184589;20443868;16385451;19487588;19628119;19661922;19801552;19842931;20023040;20038610;20124405;20201926;20468064;14702039;20730384;19913121;20628086;20677014;21127457;21575264;21728385;21768220;22196842;21784156;22223642;22467873;23251661;23139825;22961080;22952844 2869 G8JLE8;P34947;Q5T060 ABBA01062898;ABBA01062899;ABBA01062900;ABBA01062901;ABBA01062902;ABBA01062903;ABBA01062904;AF370369;AK097099;AK298261;AK301450;AK309761;AK313012;AL355273;AL355861;AL583824;AMYH01003112;AMYH01003113;AMYH01003114;BC018116;BC064506;BC114448;BQ184611;CH471066;CN290123;HI179064;L15388;NM_005308 AAA58620;AAH64506;AAI14449;AAQ15205;BAG35847;BAG60525;BAG62974;CBX53840;EAW49393;EAW49394;EAW49395;NP_005299;P34947 Hs.524625;Hs.736460 1337241;1699126;1700858;1704622;1711226;1712593;1751233;1766537;1772713;1782176;1855159;2107185;2111013;2111352;2128969;2156790;2161371;2184081;5015404;5022004;5024413 D10S1271E;D10S1701;D10S478E;D4Ulb4;GRK5_7795;L17705;L17877;RH103139;RH104055;RH120316;RH69017;RH78041;SHGC-105094;SHGC-149853;SHGC-156019;SHGC-77890;SHGC-89038;STS-AA011510;STS-L15388;WI-19887;WI-4736 FLJ39780;GPRK5 FP2025;G protein-coupled receptor kinase 5;OTTHUMP00000020596;g protein-coupled receptor kinase GRK5 APPROVED protein-coding ENSG00000198873 4544 02926 600870 REVIEWED 70075 GRM6 glutamate receptor, metabotropic 6 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Feb 2012] 5 5 q35 178337934 178354730 - 178405328 178422124 - 1580863;704404;6480464;6907045;7240710 9215706;19156168;19086053;18195715;17405131;16249515;15781871;11179672;11124982;22008250;20560679;19666700;19862333;20379614;20801516;22959359;23449627;22735794 2916 O15303 AB065467;ABBA01010010;AC104117;AJ245871;AJ245872;AMYH01015947;BX647168;CH471165;NG_008105;NM_000843;U82083 AAB82068;AAI72277;BAC05726;CAB65106;CAB65107;CAI46028;EAW53821;NP_000834;O15303 Hs.248131 5015961;5037552 D15S1477;D8S2279 CSNB1B;DKFZp686H1993;GPRC1F;MGLUR6;mGlu6 OTTHUMP00000161489;metabotropic glutamate receptor 6 APPROVED protein-coding ENSG00000113262 4598 04975 257270;604096 REVIEWED 6481406 GRM7-AS1 GRM7 antisense RNA 1 100873937 AC068313 APPROVED miscrna 40267 6481407 GRM7-AS2 GRM7 antisense RNA 2 100873936 AC066606 APPROVED miscrna 40266 5144601 GRM7-AS3 GRM7 antisense RNA 3 3 3 6610869 6784676 - 6673245 6847136 - 100507601 XR_110028;XR_112459 5108676 D3S745 APPROVED miscrna 42444 1350771 GRK6 G protein-coupled receptor kinase 6 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 q35 176786293 176802456 + 176853687 176869850 + 1580863;5133417;5147387;5685370;5684916;5684919;5688380;5688373;6480464;6907045 16304060;16484629;17996024;22090514;20410529;10094932;18662895 8077221;17538017;17081983;16613860;15498832;15489334;14702039;12552191;12507501;12477932;12077128;12007830;11856737;11517230;11504827;10861009;10852916;10506199;10467231;10446210;10379886;10334944;9826657;9819198;9341194;9211925;8415712;8366096;7961702;7789183;16169070;20383146;19423652;19801552;19956569;19996089;20038610;20424473;20468064;19913121;20628086;21784156;21139048;21890473;21906983;22703881;17102134;22916037;21963094;21988832;22678362;22939624;23497290;23375037;22505724;22952844 2870 D6R9V4;D6RC88;D6RDA3;D6RHC7;D6RHX8;F8W9W2;H0Y967;P43250 ABBA01033456;ABBA01033457;AC145098;AF040751;AF040752;AK056697;AMYH01015874;BC009277;BC017272;BE965975;BI258860;BU507609;BX382886;CH471195;L16862;NG_031981;NM_001004105;NM_001004106;NM_002082;U00686 AAA03565;AAA60175;AAC09273;AAC09274;AAH09277;AAH17272;ADZ15440;BAG51787;EAW84997;EAW84998;EAW84999;EAW85000;EAW85001;NP_001004105;NP_001004106;NP_002073;P43250 Hs.235116 1738393;1770556;2123281;2217388 D13S662E;GRK6_3990;RH70522;WI-18758 FLJ32135;GPRK6 G protein-coupled receptor kinase 6;OTTHUMP00000223834;OTTHUMP00000223835;OTTHUMP00000223836;OTTHUMP00000231482;OTTHUMP00000231483;g protein-coupled receptor kinase GRK6 APPROVED protein-coding ENSG00000198055 4545 02925 600869 REVIEWED 731311 GRM4 glutamate receptor, metabotropic 4 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 6 6 p21.3 34097606 34209421 - 33989623 34123399 - 1580863;704404;6480464;6907045 15867225;9473604;15102938;8738157;19351574;19328558;19156168;19086053;17884634;16899734;16582932;16380905;15217955;15184361;14702039;14574404;11994312;11943148;11847215;11801738;11525421;10828590;10779504;8863838;8824806;7617140;12477932;15494036;20201926;20338729;20859245;20826542;16344560 2914 A1L4F9;A8K0J8;AAB34891;B7ZLU9;F5H2M1;Q14833 AA993227;AB209104;ABBA01038165;ABBA01038166;ABBA01038167;ABBA01038168;ABBA01038169;ABBA01038170;AK122836;AK122982;AK126746;AK131536;AK289524;AK289534;AK289563;AK293913;AK293949;AK312300;AL354740;AL590403;AMYH01016251;BC130526;BC130528;BC144057;CH471081;DA094245;DA096351;DA121890;EU432124;NG_029677;NM_000841;NM_001256809;NM_001256810;NM_001256811;NM_001256812;NM_001256813;NM_001256814;NR_046379;U92457;X80818 AAB34891;AAB51762;AAI30527;AAI30529;AAI44058;ABY87923;ADR83416;ADR83420;BAD18673;BAD92341;BAF82213;BAF82223;BAF82252;BAG53752;BAG53831;BAG54370;BAH11625;BAH11632;CAA56784;EAX03759;EAX03760;NP_000832;NP_001243738;NP_001243739;NP_001243740;NP_001243741;NP_001243742;NP_001243743;Q14833 Hs.429018;Hs.736330 1336155;1337899;1729169;1757937;1758255;1761905;1762671;1763167;1763959;1786084;1795954;2125119;2162251;5015619;5020948;5109281;5127937 D11S3114;D1S1425;D6S1427;D6S1542;D6S1568;G35510;G63890;GRM4_974;SHGC-145839;SHGC-146465;SHGC-146896;SHGC-146897;SHGC-147614;SHGC-147804;SHGC-152365;SHGC-156131;STS-R88835 GPRC1D;MGC177594;MGLUR4;mGlu4 OTTHUMP00000016221;glutamate metabotropic receptor 4;metabotropic glutamate receptor 4 APPROVED protein-coding ENSG00000124493 4596 04978 604100 REVIEWED 732815 GRM3 glutamate receptor, metabotropic 3 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008] 7 7 q21.1-q21.2 86111166 86332128 + 86273230 86494192 + 1580863;6480464;6907045 21881873;17948896;17684500;17636131;17531207;17006672;16904291;16585454;16417579;16380905;15913960;15892884;15652990;15567072;15489334;15310849;15246118;15178451;15158450;14663150;12853948;12786977;12782962;12690205;12477932;11891216;11850456;11840505;11744707;11535235;11500049;11342382;8887960;8824806;8840013;19482054;19403271;19386277;19367581;19328558;19156168;19125103;19086053;18853337;18614340;18541626;18412850;18256595;18197082;18075480;19913121;20628086;20638435;15494036;18583979;19439994;20379614;20957330;21041608;20132315;23307741;21946352;22479309;22022368;21173788;22909248;23382691;21344500 2913 A4D1D0;B7Z204;C9J2I2;C9JIT1;C9JUH9;F5GYZ2;G5E9K2;Q14832;Q2PNZ6 AACC02000015;ABBA01045869;ABBA01045870;ABBA01045871;AC002081;AC004829;AC005009;AK291406;AK294178;AK294701;AMYH01017666;AMYH01017667;BC022496;BC041407;CH236949;CH471091;DQ315361;DQ315362;DQ315363;EU432123;NM_000840;X77748 AAC60379;AAD15616;AAH22496;AAH41407;ABC47402;ABM83322;ABM84213;ABM87618;ABY87922;BAF84095;BAH11690;BAH11851;CAA54796;EAL24182;EAW76971;EAW76972;NP_000831;Q14832 Hs.590575 1335823;1652369;1670861;1679231;1721787;1751361;1846915;1854498;1857865;2115877;2116557;2116559;2126703;2162382;5017545;5124998;7186341 A002C17;D7S1965;D7S644;D7S753;G17125;G19925;G59764;GDB:1318302;GDB:1318509;GRM3;RH78374;RH93070;RH94155;SHGC-105153;UniSTS:495991;WI-18027 GLUR3;GPRC1C;MGLUR3;mGlu3 OTTHUMP00000161386;OTTHUMP00000204701;glutamate metabotropic receptor 3;metabotropic glutamate receptor 3 APPROVED protein-coding ENSG00000198822 4595 03070 601115 REVIEWED 730960 GRM5 glutamate receptor, metabotropic 5 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 11 11 q14.3 87880626 88420838 - 88237744 88796816 - 1580863;6480464;6907045 7908515;19156168;19086053;18991960;18606955;18541671;18337251;18182392;17998106;17627080;17311919;15894802;15184389;15158450;15076751;14561742;12786977;12783878;12736269;12531526;12531512;12477932;12119301;11326300;9110174;8619474;8532169;7688218;9651375;11953448;9242710;9069287;9808458;19913121;20628086;20149785;11850456;11943148;15452121;15745950;19340012;19694902;20041166;20379614;20398908;20468064;21103359;23152621;21723923;21901840;22256945;22012869;22032949;20036444;22995293;23478188;21890473;22543119;23524143;23705503;22340009;23149219 2915 A8K5P7;A8MT20;H7C223;P41594;Q6J164 ABBA01011528;ABBA01011529;ABBA01011530;ABBA01011531;ABBA01011532;ABBA01011533;AF052171;AK291362;AMYH01003864;AMYH01003865;AMYH01003866;AMYH01003867;AP000626;AP001482;AP001828;AP003120;AP006214;AP006215;AW297388;AY608336;BC031602;BC047497;BX282658;CH471185;D28538;D28539;DR002861;FJ588505;FJ588506;FJ588507;NM_000842;NM_001143831;S64316;U79242 AAD13954;AAT37960;ACU31022;ACU31023;ACU31024;BAA05891;BAA05892;BAF84051;EAW59358;EAW59359;NP_000833;NP_001137303;P41594 Hs.147361;Hs.616625 1336231;1648384;1650812;1655527;1660007;1665505;1669292;1669294;1669296;1669298;1669300;1669302;1669510;1669692;1682644;1694612;1713661;1725237;1737165;1737767;1738027;1738157;1748457;1752977;1757385;1760165;1777084;2117690;2130315;2144557;2144559;2144561;2144563;2144565;2144567;2144569;2144571;2144573;2144575;2152832;2162828;2162951;2165415 D11S1109;D11S1367;D11S2309E;D11S2470;D11S2614;D11S3024;D11S3366;D11S3643;D11S3789;G02154;G02157;G02158;G02159;G02171;G02176;G02179;G02180;G02181;G02187;G02188;G02190;G02191;G02198;G02199;G02201;G02204;G02206;G02211;G02314;G02351;G43313;G64931;RH118911;RH120713;RH17467;RH40050;RH78484;SGC30871;SHGC-106865;SHGC-132429;SHGC-144777;SHGC-31451;WI-18462 GPRC1E;MGLUR5;mGlu5 OTTHUMP00000165953;OTTHUMP00000165956;OTTHUMP00000165957;metabotropic glutamate receptor 5;metabotropic glutamate receptor 5 variant F;metabotropic glutamate receptor 5 variant G;metabotropic glutamate receptor 5 variant H APPROVED protein-coding ENSG00000168959 4597 604102 REVIEWED 6481070 GRPEL2P1 GrpE-like 2, mitochondrial (E. coli) pseudogene 1 13 89630603 89631018 - 100874360 ABBA01027261;AL603716;AMYH01005278;NG_032384 pseudo 41969 INFERRED 5132812 GRPEL2P2 GrpE-like 2, mitochondrial (E. coli) pseudogene 2 X X X q11.2 64264565 64265238 - 63834411 63845124 - 63917755 63918428 - 100129994 ABBA01066923;AL353744;AMYH01022495;NG_022604 pseudo 41970 INFERRED 5132813 GRPEL2P3 GrpE-like 2, mitochondrial (E. coli) pseudogene 3 7 7 7 q21.3 89110425 89111023 + 94247018 94250777 + 94412200 94412838 + 100129871 AACC02000013;ABBA01045781;AC104700;AMYH01017697;CH236949;NG_022570 pseudo 41971 INFERRED 1603058 GRM7 glutamate receptor, metabotropic 7 L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 3 3 p26.1-p25.1 6877927 7758217 + 6902802 7783218 + 6480464;6907045 9473604;12052533;19351574;19328558;19156168;19086053;19047183;18821564;18329248;17167337;14702039;11953448;11943148;11912074;11891216;11163549;11007882;10828612;10550060;10488094;9144652;8840028;19913121;20628086;12477932;12746871;15494036;18599484;19165232;19638256;19736351;20038947;20068591;20078931;20201926;20379614;20398908;9630572;21368711;21255632;21572164;21572167;21813496;22589738;21139048;22419666;23201551;23102807;23295062 2917 B2R693;B9EGG9;C9JMT3;C9JU97;F8WAW6;F8WCR9;H7C3K2;Q14831;Q59G95 AB209214;ABBA01020430;ABBA01020431;ABBA01020432;ABBA01020433;ABBA01020434;ABBA01020435;ABBA01020436;ABBA01020437;ABBA01020438;ABBA01020439;ABBA01020440;AC023485;AC026199;AC026204;AC027121;AC034194;AC066585;AC066606;AC068313;AC077690;AI701722;AK097817;AK123326;AK312488;AMYH01012957;AMYH01012958;AMYH01012959;AMYH01012960;AW511101;BC136458;BC136459;CH471055;NG_029781;NM_000844;NM_181874;X94552 AAI36459;AAI36460;BAD92451;BAG35390;CAA64245;EAW63933;EAW63934;EAW63935;NP_000835;NP_870989;Q14831 Hs.606393;Hs.660131 1299972;1336785;1654960;1676394;1685323;1689414;1689604;1693308;1693928;1704108;1704452;1707784;1708474;1710662;1724263;1727001;1729171;1752607;1754799;1760467;1776012;1788994;1795956;2125349;2156133;2174828;2175294;2179569;5015619;5019697;5022322;5037552;5115856;7187626;7187797 A009F40;D11S2560;D11S3114;D21S1269;D3S1304;D3S3055;D3S3277;D3S3386;D3S3728;D8S2279;G32514;G42359;G42655;G62898;G63891;G65576;GRM7_1388;L29656;RH121274;RH67815;RH80246;RH93962;SHGC-106435;SHGC-141598;SHGC-143144;SHGC-2389;SHGC-76677;SHGC-79598;SHGC-82113;SHGC-82964;SHGC-83375;SHGC-85025;ksks446 FLJ40498;GLUR7;GPRC1G;MGLUR7;mGlu7 OTTHUMP00000155219;OTTHUMP00000206960;OTTHUMP00000206961;OTTHUMP00000214674;OTTHUMP00000214675;OTTHUMP00000238688;metabotropic glutamate receptor 7 APPROVED protein-coding ENSG00000196277 4599 04979 604101 REVIEWED 737598 GRP gastrin-releasing peptide This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. Its preproprotein, following cleavage of a signal peptide, is further processed to produce either the 27 aa gastrin-releasing peptide or the 10 aa neuromedin C. These smaller peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 18 18 q21.1-q21.32 55038380 55048983 + 56887400 56898003 + 1580863;6480464 8756537;3027901;19357287;19086053;18452185;18350254;18289674;16920698;16909108;16641105;15899028;15849504;15750618;15664365;15638385;15489334;15203211;14764456;13679857;12820319;12820318;12477932;12474049;11960700;11906707;11696365;11278902;10657515;8137267;8008632;7838118;6207529;3211139;3027902;3003116;3001723;1557184;20596631;16754659;18240029;19506400;19907206;20468064;20945407;21281799;21415235;21529988;22261454;23608754;21270509;22202166;22300752;22399443;23353988;22411014 2922 H0Y5C5;H0YCH3;P07492 AB102889;ABBA01056164;AC067859;AK307264;AMYH01009031;BC004488;BT006803;CH471096;CK903483;K02054;M12511;M12512;M12550;NM_001012512;NM_001012513;NM_002091;W01859 AAA52610;AAA52611;AAA52612;AAA52613;AAH04488;AAP35449;ABM84377;ABM87222;BAD89418;EAW63091;EAW63092;NP_001012530;NP_001012531;NP_002082;P07492 Hs.153444 1769080;2182706 D18S1265;STS-K02054 BN;GRP-10;preproGRP;proGRP OTTHUMP00000163646;OTTHUMP00000235893;OTTHUMP00000235894;OTTHUMP00000235895;bombesin;gastrin-releasing peptide;neuromedin C;pre-progastrin releasing peptide;prepro-GRP APPROVED protein-coding ENSG00000134443 4605 08845 137260 REVIEWED 1345534 GRPEL1 GrpE-like 1, mitochondrial (E. coli) 4 4 4 p16 6965198 6973219 - 7112681 7120701 - 7061780 7069800 - 1580863;6480464 9110174;8619474;11311562;15489334;12840016;12477932;20877624;22863883;23345595;20811636;18029348;20186120;18457437;21139048 80273 B4DWV5;Q9HAV7 ABBA01012737;AC097382;AF070525;AF087896;AF298592;AK098475;AK301695;AK312882;AMYH01013922;BC024242;CH471131;NM_025196 AAG31605;AAH24242;AAP97195;ABM82449;ABM85639;BAG35730;BAG63167;EAW82370;EAW82371;NP_079472;Q9HAV7 Hs.443723 1679147;1775862;1776883;2121624;2154644;2170348;2178453 RH93089;SHGC-24778;SHGC-24819;SHGC-50566;SHGC-67381;STS-N29453;WI-11590 FLJ25609;HMGE GrpE-like protein cochaperone;OTTHUMP00000115578;grpE protein homolog 1, mitochondrial;mt-GrpE#1 protein-coding 19696 07550 606173 PROVISIONAL 6481272 GRTP1-AS1 GRTP1 antisense RNA 1 100874068 AL136221 APPROVED miscrna 39917 1342740 GRPEL2 GrpE-like 2, mitochondrial (E. coli) 5 5 5 q32 144806966 144816121 + 148705170 148714339 + 148724977 148734146 + 1580863;6480464 15489334;14702039;12477932;9694873;18029348;20877624;17207965;19322201;21139048 134266 B4DFA6;D6RGI6;Q8TAA5 ABBA01026306;AC131025;AK074293;AK091237;AK096445;AK294005;AL704536;AL832325;AMYH01015700;BC036678;BC070090;CH471062;NM_152407 AAH36678;AAH70090;ADQ31967;BAB85040;BAG57367;CAD38619;EAW61786;NP_689620;Q8TAA5 Hs.511816 1674533;2141006;2179102 RH35851;STS-W61302;WI-20933 DKFZp451C205;FLJ23713;FLJ33918;Mt-GrpE#2 OTTHUMP00000160523;OTTHUMP00000223956;OTTHUMP00000223957;grpE protein homolog 2, mitochondrial protein-coding ENSG00000164284 21060 17079 VALIDATED 2298825 GRXCR1 glutaredoxin, cysteine rich 1 This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] 4 4 4 p13 43343120 43480521 + 42590041 42727432 + 42895283 43032675 + 7240710 15815621;9847074;20137778;11329013;19389623;23251661 389207 A8MXD5 AA588868;ABBA01014297;AC098861;AC106896;AC108035;AMYH01014137;BG213384;DT932651;DY654338;NG_027718;NM_001080476 A8MXD5;AAI48673;AAI53210;NP_001073945 Hs.162559 2114808 D4S1393 DFNB25 OTTHUMP00000218192;glutaredoxin domain-containing cysteine-rich protein 1 APPROVED protein-coding ENSG00000215203 31673 613283;613285 REVIEWED 2301277 GRXCR2 glutaredoxin, cysteine rich 2 5 5 5 q32 141319416 141332655 - 145219489 145232724 - 145239296 145252531 - 6480464 15372022 643226 A6NFK2 ABBA01026346;AC011359;AMYH01015680;CH471062;NM_001080516 A6NFK2;EAW61855;NP_001073985 Hs.570895 GRXCR1-like protein;Glutaredoxin domain-containing cysteine-rich protein 1-like protein;OTTHUMP00000224029;glutaredoxin domain-containing cysteine-rich protein 2 protein-coding ENSG00000204928 33862 PROVISIONAL 1345254 GRN granulin Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008] 17 17 q21.32 39778017 39785996 + 42422491 42430470 + 1580863;5509591;5509592;5509606;5509616;5509601;5509604;5509619;5509603;5509588;5509600;5509602;5509781;5509782;5509609;5509590;5509589;5509593;5509612;5509596;6480464;7240710 21613335;21220649;19557827;18565828;20142525;19649643;18184915;19946692;16862116;20197700;16983685;19321167;21393509;19012866;21892962;21933710;21107132;18855025;20463744 21224065;1542665;19473366;19255408;19237611;19179604;19158106;19101631;19091059;19056610;19049508;19016491;18955727;18848708;18838661;18771956;18768919;18752597;18723524;18706200;18593276;18551524;18543312;18479928;18464284;18442119;18413474;18413467;18392865;18378771;18359860;18322394;18245784;18234697;18223198;18192287;18183624;18166610;18157829;17984093;17950702;17949857;17826340;17698705;17620546;17572900;17522386;17458552;17439980;17436289;17417739;17383054;17371905;17353379;17345602;17291356;17278999;17266030;17261172;17228326;17210807;17202431;17166276;17157414;16983677;16950801;16862115;16857791;16713569;16533762;16189514;15653695;15569995;15489334;15231748;14977833;14702039;14652816;12931033;12914763;12900424;12588988;12538450;12526812;12477932;12031912;11846389;11549288;11068878;10728698;10715107;10477733;10397269;22204653;10079180;9826678;9110174;8912679;8619474;8496151;8471426;8471244;8125298;2268320;1618805;1417868;18276110;20087814;19913121;20479936;20628086;20711061;20930269;20947212;18029348;18314228;18723384;19020205;19133655;19487464;19618231;19625741;19632744;19730170;19730171;19795409;19847305;19858458;19863344;19864668;19938685;19963041;20020531;20028451;20054825;20061636;20142524;20154673;20171924;20237496;20387302;19940479;21263192;20489155;20798611;20858962;21047645;20215705;20045477;20570546;20682318;21087763;20884628;21085476;21178100;21289198;21482928;22316048;22945272;22130207;22280948;20930271;21204008;21454553;19446372;21123963;21258152;23409033;21212639;21813674;21753165;20975516;21677378;20933034;22491866;19343720;21078624;21707777;22088468;21645364;21942715;22045426;22068162;22647257;23338682;23364791;22623979;23342160;22761921;17110338;21988832;22792281;21800185;21232819;21891865;21891869;22032330;22176685;22366795;22504418;18654987;20301545;21802097;22397762;22509390;22194816;22608501;22505994;21319273;22338605;23402259;23455922;23596077;22986778;22819134;22127750;22268729;22802426;22859297;22665040;22787763;23236149;22348647;23088713 2896 K7EJY4;K7EK92;K7EKL3;K7ELY1;K7EM89;K7EMR1;K7ENI2;K7ENN1;K7EPL0;K7EQ05;K7EQA7;K7EQI0;K7EQK6;K7ERM2;Q9BWE7 ABBA01028377;AC003043;AF055008;AK000607;AK023348;AK222522;AK296090;AK303830;AMYH01008417;AY124489;BC000324;BC010577;BT006844;CH471178;M75161;NG_007886;NM_002087;X62320 AAA58617;AAC09359;AAH00324;AAH10577;AAM94026;AAP35490;BAB14535;BAD96242;BAG58844;BAG64777;CAA44196;EAW51599;EAW51600;EAW51601;NP_002078;P28799 Hs.514220 1712224;1739493;1771931;2129786 D17S1701;G54019;STS-T54360;STS-X62320 CLN11;GEP;GP88;PCDGF;PEPI;PGRN PC cell-derived growth factor;acrogranin;granulin-epithelin;granulins;proepithelin;progranulin APPROVED protein-coding ENSG00000030582 4601 00733 138945;607485;614706 REVIEWED 1319426 GRTP1 growth hormone regulated TBC protein 1 13 13 13 q34 94805016 94846427 - 113026506 113066464 - 113978505 114018463 - 6480464 19077034;12477932;8889548;11564724;21890473;22139419 79774 B9A6K2;Q5TC63 AB449887;ABBA01019865;ABBA01019866;AK026127;AK300897;AK309959;AL136221;AMYH01005399;AMYH01005400;BC033071;BC062461;BC080640;BC112123;BC112125;BC143682;CB242314;CH471085;CS300716;CX788865;NM_024719 AAH33071;AAH62461;AAH80640;AAI12124;AAI12126;BAB15368;BAG62536;BAH16630;CAK32380;EAX09204;EAX09205;EAX09206;NP_078995;Q5TC63 Hs.170904 1737449;1737469;1856629;5014053;5020948;5022578;5109281;5118576;5122090 D11S3430;D13S1009;D13S1020;D1S1423;D1S1425;D1S3693;G35510;RH44436;STS-T40971 FLJ22474;MGC138328;MGC138330;TBC1D6 OTTHUMP00000018752;TBC1 domain family member 6;TBC1 domain family, member 6;growth hormone-regulated TBC protein 1 protein-coding ENSG00000139835 20310 17080 VALIDATED 1313301 GSC2 goosecoid homeobox 2 Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 2988450 2989742 - 17516504 17517796 - 19136504 19137796 - 1580863;6480464 9700206;9150167;10822263;9441739;22916037 2928 O15499 AC004463;AMYH01012475;CH471176;NM_005315;U96402 AAC39544;EAX03052;NP_005306;O15499 Hs.534318 5492583 UniSTS:481722 GSCL GSC-2;GSC-L;OTTHUMP00000205447;goosecoid-like;homeobox protein goosecoid-2;homeobox protein goosecoid-like APPROVED protein-coding 4613 03506 601845 REVIEWED 1351273 GSDM2 gasdermin 2 432402 25218 1344122 GSDM3 gasdermin 3 432403 30789 731959 GRPR gastrin-releasing peptide receptor Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008] X X p22.2 16051345 16081562 + 16141424 16171641 + 1580863;6480464 8391296;7838118;1655761;9674911;9259269;8406441;7759104;19478282;19343734;19204726;18753628;18676680;18663369;18497507;18483184;18452185;18393381;17726264;17349623;16344560;15967120;15941862;15489334;15361544;14747448;14729406;12771999;12720295;12526815;12477932;12474049;12409226;12220644;11960700;11245983;10620630;20211708;16754659;20596631;18240029;19170196;19631337;19642024;19692168;22431275;21605611;22296774;22248281;22735756;23155231;22411014 2925 AAB27329;P30550 ABBA01071383;ABBA01071384;ABBA01071385;ABBA01071386;AC004025;AC078993;AF293321;AF293322;AF293323;AK313588;AMYH01022110;AU125660;BC074733;CH471074;M73481;NG_012512;NM_005314;U57365 AAA88050;AAB27329;AAB40612;AAH74733;AAL96377;BAG36357;EAW98909;NP_005305;P30550 Hs.567282 1701738;1701938;1702686;1743581;1745393;2107189;2151753 DXS7978;DXS8274;GDB:345272;GDB:604498;GDB:604552;GDB:604567;GRPR__7550 GRP-R;GRP-preferring bombesin receptor;OTTHUMP00000022983;gastrin-releasing peptide receptor APPROVED protein-coding 4609 02376 305670 REVIEWED 1604809 GSAP gamma-secretase activating protein Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010] 7 7 7 q11.23 71640697 71746347 - 76778004 76883653 - 76940068 77045717 - 6480464 16341674;14702039;12690205;12477932;20811458;23209290;22681044;21718343 54103 A4D1B5;B7ZL33;C9JRG7;H7C0Q7 ABBA01058001;ABBA01058002;ABBA01058003;ABBA01058004;ABBA01058005;ABBA01058006;AC004921;AC073635;AK026696;AK026747;AK027188;AK126364;AL079277;AL079297;AL834358;AMYH01017625;AMYH01017626;AMYH01017627;AMYH01017628;BC101499;BC110797;BC143549;BM842423;CH236949;DB498013;NM_017439 A4D1B5;AAI01500;AAI43550;CAB45152;CAB45193;CAD39023;EAL24201;NP_059135 Hs.186649 1683727;1715929;2136329;2145278;2163232 A003P29;GDB:1317528;RH122700;RH76553;SHGC-56107 DKFZp667B242;GSAP;MGC126548 OTTHUMP00000197684;gamma-secretase-activating protein;pigeon homolog;protein pigeon homolog APPROVED protein-coding ENSG00000186088 28042 18671 613552 VALIDATED 1344190 GRWD1 glutamate-rich WD repeat containing 1 This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012] 19 19 19 q13.33 45814275 45822403 + 53640874 53648966 + 48949030 48957164 + 1580863;6480464 17081983;17041588;16344560;15885502;15635413;15489334;12549820;12477932;12429849;11853319;18247557;21145461;20431927;18162579;22939629;16196087;18029348;15467761;21942715;21987572;21139048;21906983;21907836;17079684;21628590;22505724;22952844 83743 A0MNN5;M0QX71;Q9BQ67 ABBA01032990;AC008403;AF337808;AK074676;AK131055;AK300225;AK315625;AL713729;AMYH01009902;BC002440;BC036281;BC047351;CH471177;CQ783568;DA200417;DA714522;EF011614;NM_031485 AAH02440;AAK17998;ABK41104;ABM83556;ABM86794;BAC11130;BAG37993;BAG61993;CAD28519;CAF86737;EAW52347;NP_113673;Q9BQ67 Hs.400625 1688488;2132522 RH12000;RH92449 CDW4;GRWD;KIAA1942;RRB1;WDR28 CUL4- and DDB1-associated WDR protein 4;WD repeat domain 28;glutamate rich WD repeat protein GRWD;glutamate-rich WD repeat-containing protein 1;regulator of ribosome biogenesis 1 homolog APPROVED protein-coding 21270 11013 610597 REVIEWED 736937 GSC goosecoid homeobox This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008] 14 14 14 q32.1 75290663 75292602 - 94304313 94306252 - 95234560 95236499 - 704404;6480464 7916327;18074379;17142318;15761153;15489334;15014966;12642491;12477932;9417125;19875614;19935299;20195123;21294870;22178155 145258 P56915 ABBA01030410;AL121612;AMYH01005970;AY177407;BC063580;CH471061;NM_173849 AAH63580;AAO18645;EAW81594;NP_776248;P56915 Hs.440438 OTTHUMP00000244604;homeobox protein goosecoid APPROVED protein-coding ENSG00000133937 4612 15928 138890 REVIEWED 1347779 GSDMA gasdermin A 17 17 17 q21.1 34779300 34794093 + 35372752 35387545 + 38119226 38134019 + 6480464 17471240;19051310;17350798;15010812;14702039;12883658;12477932;10967128;21546069;19820697;20860503;21337730;21139048;22037903;23128233 284110 J3KRG2;Q96QA5 AA826386;AB093591;ABBA01031851;AC090844;AF307953;AK096439;AMYH01008377;AMYH01008378;BC109197;CH471152;NM_178171 AAI09198;AAL14426;BAC04790;BAC75636;EAW60624;NP_835465;Q96QA5 Hs.448873 1342259;5015619;5018953;5022200;5037552;5125154 D11S3114;D17S1814;D17S651;D8S2279;G42236;L18426 FKSG9;FLJ39120;GSDM;GSDM1;MGC129596 gasdermin 1;gasdermin-1;gasdermin-A protein-coding ENSG00000167914 13311 17081 611218 VALIDATED 1346441 GSDMB gasdermin B This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Sep 2009] 17 17 q12 35314374 35328429 - 38060848 38074903 - 6480464 19133921;19068216;19051310;19029000;18038310;17350798;15342556;15010812;14702039;12883658;12477932;11483580;16712791;20601676;17611496;19430480;19732864;20378605;20228799;20639880;19760754;20816195;20860503;21297633;21337730;22295569;22370936;21804549;21988832;23000144;23128233;21832049;22732088 55876 B2CM71;B2CM72;B2CM73;J3QLF0;Q8TAX9 ABBA01031852;AC090844;AF119884;AF258572;AK000409;AK057588;AK296607;AMYH01008376;BC025682;BP366854;BX538068;BX647700;CA488357;CB136981;CH471152;EU526753;EU526754;EU526755;EU526756;NG_015804;NM_001042471;NM_001165958;NM_001165959;NM_018530 AAF69638;AAG23775;AAH25682;ACB37349;ACB37350;ACB37351;ACB37352;ACE86971;ACE87661;BAA91146;BAG59219;CAD97998;EAW60612;EAW60613;EAW60614;EAW60615;NP_001035936;NP_001159430;NP_001159431;NP_061000;Q8TAX9 Hs.306777 1659012;1762897;1783566;1850388;2172369;5037552 D8S2279;RH12559;SHGC-146654;SHGC-154938;STS-N38810;WI-20984 GSDML;PP4052;PRO2521 OTTHUMP00000164329;OTTHUMP00000164330;OTTHUMP00000164331;OTTHUMP00000164332;OTTHUMP00000227622;gasdermin-B;gasdermin-like protein APPROVED protein-coding ENSG00000073605 23690 17082 611221 REVIEWED 1322002 GRSF1 G-rich RNA sequence binding factor 1 The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q13 69038501 69062624 - 71900363 71924491 - 71681499 71705627 - 1580863;6480464 8036161;14702039;12477932;12239318;10359774;8751379;20877624;21145461;18029348;20186120;21139048;21890473;21906983;21628590;22505724 2926 F5H5I6;H0Y8R1;H0YAK1;H0YAM1;Q12849 ABBA01022941;ABBA01022942;ABBA01022943;ABBA01022944;AC021989;AI151431;AK023187;AK055499;AK056891;AK090755;AK094806;AK095799;AK097055;AK124124;AK124242;AK127161;AK294612;AK296287;AK298883;AMYH01014283;AV739732;BC040485;BC043201;CH471057;DN990192;NM_001098477;NM_002092;U07231 AAC95399;AAH40485;AAY40942;BAC03513;BAC86863;BAG51526;BAG51822;BAG52934;BAG53131;BAG53414;BAG54012;BAH11824;BAH12303;BAH12895;EAX05631;EAX05632;EAX05633;EAX05634;NP_001091947;NP_002083;Q12849 Hs.309763 1647868;1769694;2144103;2185416;5016478;5022450;5022578;5022588 D10S275;D1S1423;D4S2668;D5S1597E;GDB:434012;RH17982;SHGC-50636;SHGC-68211 FLJ13125 G-rich sequence factor 1;GRSF-1;OTTHUMP00000219148;OTTHUMP00000219149;OTTHUMP00000219150;OTTHUMP00000219151 APPROVED protein-coding ENSG00000132463 4610 07276 604851 REVIEWED 1353864 GSK1 glycogen synthase kinase 1 2929 4614 1345279 GSK2 glycogen synthase kinase 2 2930 4615 1350769 GRM8 glutamate receptor, metabotropic 8 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 q31.3-q32.1 125865895 126670548 - 126078652 126892428 - 1358645;1580863;6480464;6484664;6771180;6484666;6771182;6771187;6771183;6484665;6771186;6907045 12676915;22138692;22546615;15211621;17434465;15589052;17430409;17940877;17113112 9473604;11166323;19268276;19156168;19058789;19023099;18618593;18195715;17975119;17955477;17684544;17167337;16144832;15489334;12477932;11943148;11912074;11329013;10216218;9299241;8824806;20560679;20800221;20237162;15452121;20009918;20201926;20379614;20398908;21493956;23420844 2918 C9J7I1;E7ETK3;H7C4V5;Q52M02 AACC02000001;ABBA01057687;ABBA01057688;ABBA01057689;ABBA01057690;ABBA01057691;ABBA01057692;ABBA01057693;AC000099;AC000354;AC000355;AC000356;AC000361;AC000362;AC000363;AC000364;AC000365;AC000366;AC000367;AC000369;AC000370;AC000373;AC000374;AC002048;AC002057;AC002063;AC002083;AC002084;AC002113;AC002114;AC002424;AC002496;AC002497;AC002533;AJ236921;AJ236922;AK123053;AK290197;AK315203;AMYH01017909;AMYH01017910;AY608335;BC093725;BC101675;BC143344;BG202742;BG211606;CH236947;CH471070;CS223369;EU432125;HC309802;NG_029532;NM_000845;NM_001127323;NR_028041;U92459;U95025 AAB46348;AAB51764;AAB72040;AAH93725;AAI01676;AAT37959;ABY87924;BAF82886;CAB36968;CAB36969;CAJ46924;CBJ21208;EAL24322;EAW83621;EAW83622;EAW83623;EAW83624;NP_000836;NP_001120795;O00222 Hs.449625 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648;REN113649;REN113650;REN113651;REN113652;REN113653;REN113654;REN113655;REN113656;REN113657;REN113658;REN113659;REN113660;REN113661;REN113662;REN113663;REN113664;REN113665;REN113666;REN113667;REN113668;REN113669;REN113670;REN113671;REN113672;REN113673;REN113674;REN113675;REN113676;REN113677;REN113678;REN113679;REN113680;REN113681;REN113682;REN113683;REN113684;REN113685;REN113686;REN113687;REN113688;REN113689;REN113690;REN113691;REN113692;REN113693;REN113694;REN113695;REN113696;REN113697;REN113698;REN113699;REN113700;REN113701;REN113702;REN113703;REN113704;REN113705;REN113706;REN113707;REN113708;REN113709;REN113710;REN113711;REN113712;REN113713;REN113714;REN113715;REN113716;REN113717;REN113718;REN113719;REN113720;REN113721;REN113722;REN113723;REN113724;REN113725;REN113726;REN113727;REN113728;REN113729;REN113730;REN113731;REN113732;REN113733;REN113734;REN113735;REN113736;REN113737;REN113738;REN113739;REN113740;REN113741;REN113742;REN113743;REN113744;REN113745;REN113746;REN113747;REN113748;REN113749;REN113750;REN113751;REN113752;REN113753;REN113754;REN113755;REN113756;REN113757;REN113758;REN113759;REN113760;REN113761;REN113762;REN113763;REN113764;REN113765;REN113766;REN113767;REN113768;REN113769;REN113770;REN113771;REN113772;REN113773;REN113774;REN113775;REN113776;REN113777;REN113778;REN113779;REN113780;REN113781;REN113782;REN113783;REN113784;REN113785;REN113786;REN113787;REN113788;REN113789;REN113790;REN113791;REN113792;REN113793;REN113794;REN113795;REN113796;REN113797;REN113798;REN113799;REN113800;REN113801;REN113802;REN113803;REN113804;REN113805;REN113806;REN113807;REN113808;REN113809;REN113810;REN113811;REN113812;REN113813;REN113814;REN113815;REN113816;REN113817;REN113818;REN113819;REN113820;REN113821;REN113822;REN113823;REN113824;REN113825;REN113826;REN113827;REN113828;REN113829;REN113830;REN113831;REN113832;REN113833;REN113834;REN113835;REN113836;REN113837;REN113838;REN113839;REN113840;REN113841;REN113842;REN113843;REN113844;REN113845;REN113846;REN113847;REN113848;REN113849;REN113850;REN113851;REN113852;REN113853;REN113854;REN113855;REN113856;REN113857;REN113858;REN113859;REN113860;REN113861;REN113862;REN113863;REN113864;REN113865;REN113866;REN113867;REN113868;REN113869;REN113870;REN113871;REN113872;REN113873;REN113874;REN113875;REN113876;REN113877;REN113878;REN113879;REN113880;REN113881;REN113882;REN113883;REN113884;REN113885;REN113886;REN113887;REN113888;REN113889;REN113890;REN113891;REN113892;REN113893;REN113894;REN113895;REN113896;REN113897;REN113898;REN113899;REN113900;REN113901;REN113902;REN113903;REN113904;REN113905;REN113906;REN113907;REN113908;REN113909;REN113910;REN113911;REN113912;REN113914;REN113915;REN113917;REN113918;REN113922;REN113923;REN113924;REN113925;REN113926;REN113927;REN113929;REN113930;REN113931;REN113932;REN113933;REN113934;REN113935;REN113936;REN113937;REN113938;REN113939;REN113940;REN113941;REN113942;REN113943;REN113944;REN113945;REN113946;REN113947;REN113948;REN113949;REN113950;REN113951;REN113952;REN113953;REN113954;REN113955;REN113956;REN113957;REN113958;REN113959;REN113960;REN113961;REN113962;REN113963;REN113964;REN113965;REN113966;REN113967;REN113968;REN113969;REN113970;REN113971;REN113972;REN113973;REN113974;REN113975;REN113976;REN113977;REN113978;REN113979;REN113980;REN113981;REN113982;REN113983;REN113984;REN113985;REN113986;REN113987;REN113988;REN113989;REN113990;REN113991;REN113992;REN113993;REN113994;REN113995;REN113996;REN113997;REN113998;REN113999;REN114000;REN114001;REN114002;REN114003;REN114004;REN114005;REN114006;REN114007;REN114008;REN114009;REN114010;REN114011;REN114012;REN114013;REN114014;REN114015;REN114016;REN114017;REN114018;REN114019;REN114020;REN114021;REN114022;REN114023;REN114024;REN114025;REN114026;REN114027;REN114028;REN114029;REN114030;REN114031;REN114032;REN114033;REN114034;REN114035;REN114036;REN114037;REN114038;REN114039;REN114040;REN114041;REN114042;REN114043;REN114044;REN114045;REN114046;REN114047;REN114048;REN114049;REN114050;REN114051;REN114052;REN114053;REN114054;REN114055;REN114056;REN114057;REN114058;REN114059;REN114060;REN114061;REN114062;REN114063;REN114064;REN114065;REN114066;REN114067;REN114068;REN114069;REN114070;REN114071;REN114072;REN114073;REN114074;REN114075;REN114076;REN114077;REN114078;REN114079;REN114080;REN114081;REN114082;REN114083;REN114084;REN114085;REN114086;REN114087;REN114088;REN114089;REN114090;REN114091;REN114092;REN114093;REN114094;REN114095;REN114096;REN114097;REN114098;REN114099;REN114100;REN114101;REN114102;REN114103;REN114104;REN114105;REN114106;REN114107;REN114108;REN114109;REN114110;REN114111;REN114112;REN114113;REN114114;REN114115;REN114116;REN114117;REN114118;REN114119;REN114120;REN114121;REN114122;REN114123;REN114124;REN114125;REN114126;REN114127;REN114128;REN114129;REN114130;REN114131;REN114132;REN114133;REN114134;REN114135;REN114136;REN114137;REN114138;REN114139;REN114140;REN114141;REN114142;REN114143;REN114144;REN114145;REN114146;REN114147;REN114148;REN114149;REN114150;REN114151;REN114152;REN114153;REN114154;REN114155;REN114156;REN114157;REN114158;REN114159;REN114160;REN114161;REN114162;REN114163;REN114164;REN114165;REN114166;REN114167;REN114168;REN114169;REN114170;REN114171;REN114172;REN114173;REN114174;REN114175;REN114176;REN114177;REN114178;REN114179;REN114180;REN114181;REN114182;REN114183;REN114184;REN114185;REN114186;REN114187;REN114188;REN114189;REN114190;REN114191;REN114192;REN114193;REN114194;REN114195;REN114196;REN114197;REN114198;REN114199;REN114200;REN114201;REN114202;REN114203;REN114204;REN114205;REN114206;REN114207;REN114208;REN114209;REN114210;REN114211;REN114212;REN114213;REN114214;REN114215;REN114216;REN114217;REN114218;REN114219;REN114220;REN114221;REN114222;REN114223;REN114224;REN114225;REN114226;REN114227;REN114228;REN114229;REN114230;REN114231;REN114232;REN114233;REN114234;REN114235;REN114236;REN114237;REN114238;REN114239;REN114240;REN114241;REN114242;REN114243;REN114244;REN114245;REN114246;REN114247;REN114248;REN114249;RH98229;SHGC-144155;SHGC-148151;SHGC-151011;SHGC-153012;SHGC-78922;WI-10680;stSG612933;stSG612936;stSG612937;stSG612938;stSG612939;stSG612940;stSG612941;stSG612942;stSG612943;stSG612944;stSG612945;stSG612946;stSG612947;stSG612948;stSG612949;stSG612950;stSG612951;stSG612952;stSG612953;stSG612954;stSG612955;stSG612956;stSG612957;stSG612959;stSG612960;stSG612961;stSG612962;stSG612963;stSG612964;stSG612965;stSG612966;stSG612967;stSG612968;stSG612969;stSG612970;stSG612971;stSG612972;stSG612973;stSG612974;stSG612976;stSG612977;stSG612978;stSG612979;stSG612980;stSG612981;stSG612982;stSG612983;stSG612984;stSG612985;stSG612986;stSG612987;stSG612988;stSG612989;stSG612990;stSG612991;stSG612992;stSG612993;stSG612994;stSG612995;stSG612996;stSG612997;stSG612998;stSG612999;stSG613000;stSG613001;stSG613002;stSG613003;stSG613004;stSG613005;stSG613006;stSG613007;stSG613008;stSG613009;stSG613011;stSG613012;stSG613013;stSG613014;stSG613015;stSG613016;stSG613017;stSG613018;stSG613019;stSG613020;stSG613021;stSG613022;stSG613023;stSG613024;stSG613025;stSG613026;stSG613027;stSG613028;stSG613029;stSG613030;stSG613031;stSG613032;stSG613033;stSG613034;stSG613035;stSG613036;stSG613037;stSG613038;stSG613039;stSG613040;stSG613041;stSG613042;stSG613043;stSG613044;stSG613045;stSG613046;stSG613047;stSG613048;stSG613049;stSG613050;stSG613051;stSG613052;stSG613053;stSG613054;stSG613055;stSG613056;stSG613057;stSG613058;stSG613059;stSG613060;stSG613061;stSG613062;stSG613063;stSG613064;stSG613065;stSG613066;stSG613067;stSG613069;stSG613070;stSG613071;stSG613072;stSG613073;stSG613074;stSG613075;stSG613076;stSG613077;stSG613078;stSG613079;stSG613080;stSG613081;stSG613082;stSG613083;stSG613084;stSG613085;stSG613086;stSG613087;stSG613088;stSG613089;stSG613090;stSG613091;stSG613092;stSG613093;stSG613094;stSG613095;stSG613096;stSG613097;stSG613098;stSG613099;stSG613100;stSG613101;stSG613102;stSG613103;stSG613104;stSG613105;stSG613106;stSG613107;stSG613109;stSG613110;stSG613111;stSG613112;stSG613113;stSG613114;stSG613115;stSG613116;stSG613117;stSG613118;stSG613120;stSG613121;stSG613122;stSG613123;stSG613124;stSG613125;stSG613126;stSG613127;stSG613128;stSG613129;stSG613130;stSG613131;stSG613132;stSG613133;stSG613134;stSG613135;stSG613136;stSG613138;stSG613139;stSG613140;stSG613141;stSG613142;stSG613143;stSG613144;stSG613145;stSG613146;stSG613147;stSG613148;stSG613149;stSG613150;stSG613151;stSG613152;stSG613153;stSG613154;stSG613155;stSG613156;stSG613157;stSG613158;stSG613159;stSG613160;stSG613161;stSG613162;stSG613163;stSG613164;stSG613165;stSG613166;stSG613167;stSG613168;stSG613169;stSG613170;stSG613171;stSG613172;stSG613173;stSG613174;stSG613175;stSG613176;stSG613177;stSG613178;stSG613179;stSG613180;stSG613181;stSG613182;stSG613183;stSG613184;stSG613185;stSG613186;stSG613187;stSG613188;stSG613189;stSG613190;stSG613191;stSG613192;stSG613193;stSG613194;stSG613195;stSG613196;stSG613197;stSG613198;stSG613199;stSG613200;stSG613201;stSG613202;stSG613203;stSG613204;stSG613205;stSG613206;stSG613207;stSG613208;stSG613209;stSG613210;stSG613211;stSG613212;stSG613213;stSG613214;stSG613215;stSG613216;stSG613217;stSG613218;stSG613219;stSG613220;stSG613221;stSG613222;stSG613223;stSG613224;stSG613225;stSG613226;stSG613227;stSG613228;stSG613229;stSG613232;stSG613233;stSG613238;stSG613244;stSG613245;stSG613246;stSG613247;stSG613248;stSG613249;stSG613250;stSG613251;stSG613252;stSG613253;stSG613254;stSG613255;stSG613256;stSG613257;stSG613258;stSG613259;stSG613260;stSG613261;stSG613262;stSG613263;stSG613264;stSG613265;stSG613266;stSG613267;stSG613268;stSG613269;stSG613270;stSG613271;stSG613272;stSG613273;stSG613274;stSG613275;stSG613276;stSG613277;stSG613278;stSG613279;stSG613280;stSG613281;stSG613282;stSG613283;stSG613284;stSG613285;stSG613286;stSG613287;stSG613288;stSG613289;stSG613290;stSG613291;stSG613292;stSG613293;stSG613294;stSG613295;stSG613296;stSG613297;stSG613298;stSG613299;stSG613300;stSG613301;stSG613302;stSG613303;stSG613304;stSG613305;stSG613306;stSG613307;stSG613308;stSG613309;stSG613310;stSG613311;stSG613312;stSG613313;stSG613314;stSG613315;stSG613316;stSG613317;stSG613318;stSG613319;stSG613320;stSG613321;stSG613322;stSG613323;stSG613324;stSG613325;stSG613326;stSG613327;stSG613328;stSG613329;stSG613330;stSG613331;stSG613332;stSG613333;stSG613334;stSG613335;stSG613336;stSG613337;stSG613338;stSG613339;stSG613340;stSG613341;stSG613342;stSG613343;stSG613344;stSG613345;stSG613346;stSG613347;stSG613349;stSG613350;stSG613351;stSG613352;stSG613353;stSG613354;stSG613355;stSG613356;stSG613357;stSG613358;stSG613359;stSG613360;stSG613361;stSG613362;stSG613363;stSG613365;stSG613366;stSG613367;stSG613368;stSG613369;stSG613370;stSG613371;stSG613372;stSG613373;stSG613374;stSG613375;stSG613376;stSG613377;stSG613378;stSG613379;stSG613380;stSG613381;stSG613382;stSG613383;stSG613384;stSG613385;stSG613386;stSG613387;stSG613388;stSG613390;stSG613391;stSG613392;stSG613393;stSG613394;stSG613395;stSG613396;stSG613397;stSG613398;stSG613399;stSG613400;stSG613401;stSG613402;stSG613403;stSG613404;stSG613405;stSG613406;stSG613407;stSG613408;stSG613409;stSG613410;stSG613411;stSG613412;stSG613413;stSG613414;stSG613415;stSG613416;stSG613417;stSG613418;stSG613419;stSG613420;stSG613421;stSG613422;stSG613423;stSG613424;stSG613425;stSG613426;stSG613427;stSG613428;stSG613429;stSG613430;stSG613431;stSG613432;stSG613433;stSG613434;stSG613435;stSG613436;stSG613437;stSG613438;stSG613439;stSG613440;stSG613441;stSG613442;stSG613443;stSG613444;stSG613445;stSG613447;stSG613448;stSG613449;stSG613450;stSG613451;stSG613452;stSG613453;stSG613454;stSG613455;stSG613456;stSG613457;stSG613458;stSG613459;stSG613460;stSG613461;stSG613462;stSG613463;stSG613465;stSG613466;stSG613467;stSG613468;stSG613469;stSG613470;stSG613471;stSG613472;stSG613473;stSG613474;stSG613475;stSG613476;stSG613477;stSG613478;stSG613479;stSG613480;stSG613481;stSG613482;stSG613484;stSG613485;stSG613486;stSG613487;stSG613488;stSG613490;stSG613491;stSG613492;stSG613494;stSG613495;stSG613496;stSG613498;stSG613499;stSG613501;stSG613502;stSG613503;stSG613504;stSG613505 FLJ41058;GLUR8;GPRC1H;MGC126724;MGLUR8;mGlu8 OTTHUMP00000024506;OTTHUMP00000069010;OTTHUMP00000199504;OTTHUMP00000212423;glutamate metabotropic receptor 8;metabotropic glutamate receptor 8 APPROVED protein-coding ENSG00000179603 4600 03071 601116 REVIEWED 1316349 GSDMD gasdermin D Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] 8 8 8 q24.3 140945843 140955486 + 144711635 144716375 + 144635557 144645232 + 737633;6480464 12477932 19051310;17350798;16421571;15592455;15489334;15289881;14702039;21139048;21890473;21906983 79792 A8K702;E9PIB2;E9PNZ0;E9PQ48;E9PQR9;E9PRF1;G3V1A6;H0YDB0;P57764 ABBA01005249;AC067930;AF318341;AK022212;AK093858;AK096216;AK123985;AK127941;AK291817;AK303615;AMYH01019109;AY008304;BC008904;BC069000;CH471162;DC398191;NM_001166237;NM_024736 AAG22861;AAH08904;AAH69000;AAL55848;BAB13986;BAC87201;BAF84506;BAG53233;BAG53989;BAG64625;EAW82242;EAW82243;EAW82244;EAW82245;EAW82246;EAW82247;EAW82248;NP_001159709;NP_079012;P57764 Hs.118983 2121986;2159684 D8S2072;WI-8705 DF5L;DFNA5L;FKSG10;FLJ12150;GSDMDC1 OTTHUMP00000228549;OTTHUMP00000228550;OTTHUMP00000228551;gasdermin domain containing 1;gasdermin domain-containing protein 1;gasdermin-D APPROVED protein-coding ENSG00000104518 25697 11014 REVIEWED 1604995 GSG1L GSG1-like 16 16 16 p12.1 26576214 26853626 - 27706351 27982331 - 27798850 28074830 - 6480464 16344560;15489335;12975309;12477932;23251661 146395 B3KY67;H3BNP0;Q6UXU4 ABBA01017162;ABBA01017163;ABBA01017164;ABBA01017165;ABBA01017166;AC008732;AC009030;AC130449;AI418246;AK128775;AMYH01007406;AMYH01007407;AY302134;AY358206;BC016460;CH471145;CV024949;DB306756;NM_001109763;NM_144675 AAH16460;AAP57626;AAQ88573;ABM84515;ABM85880;BAG54729;EAW55740;EAW55741;EAW55742;NP_001103233;NP_653276;Q6UXU4 Hs.91910 1338046;1681764;1727325;1731655;1733216;1736580;1743279;1743281;1756591;1764145;1766131;1771626;1783440;1852187;5494082 AU048399;D16S2573E;D16S272;D16S288;D16S478;D16S690;G63070;GDB:1318348;GDB:314095;GDB:314103;RH91752;SHGC-143628;SHGC-147786;SHGC-149510;SHGC-171826 MGC18079;PRO19651 GSG1-like protein;KTSR5831;OTTHUMP00000162454;germ cell-specific gene 1-like protein protein-coding ENSG00000169181 28283 14464 VALIDATED 1315222 GSG1 germ cell associated 1 12 12 12 p13.1 18385909 18405482 - 13128309 13147886 - 13236471 13256630 - 6480464 16344560;16303743;14702039;12975309;12477932;11181995;9337410;21697133;20379614 83445 F1T0A0;F1T0A1;F5GYH0;F5H0V9;F5H134;F8W8T6;G3XAB9;J3KNJ9;Q2KHT4 AB593019;AB593020;ABBA01067857;AC023790;AC079628;AK027894;AK058045;AK075288;AK075311;AK075322;AMYH01004292;AW959540;AY358513;BC001796;BC033854;BC112896;BG721146;BI827923;BI830401;BI831369;CH471094;CQ783930;DA370135;DB456105;NM_001080554;NM_001080555;NM_001206842;NM_001206843;NM_001206845;NM_031289;NM_153823 AAH01796;AAH33854;AAI12897;AAQ88877;ABM83007;ABM86200;BAB55437;BAB71638;BAC11524;BAC11540;BAC11548;BAJ83974;BAJ83975;CAF86930;EAW96299;EAW96300;EAW96301;EAW96302;EAW96303;NP_001074023;NP_001074024;NP_001193771;NP_001193772;NP_001193774;NP_112579;NP_722545;Q2KHT4 Hs.240053 1698030;1699848;2107193;2130673 CHLC.GAAT11C09;GSG1__7554;RH102546;RH103531 MGC111023;MGC3146 OTTHUMP00000196445;OTTHUMP00000196446;OTTHUMP00000239418;OTTHUMP00000239419;OTTHUMP00000239420;OTTHUMP00000239422;OTTHUMP00000239455;germ cell-specific gene 1 protein protein-coding ENSG00000111305 19716 11015 VALIDATED 1349905 GSM1 geniospasm 1 7240710 9382105 2933 1337774;1338278;1342113;7185144 D9S175;D9S1806;D9S1837 4619 1604378 GSE1 Gse1 coiled-coil protein 16 16 16 q24.1 69950111 70012922 + 84204425 84267313 + 85645029 85709812 + 6480464 16341674;16189514;15489334;15302935;15231747;12493763;12477932;8889548;8724849;16169070;19060904;16079794;18391013;22939629;17043677;21139048;21890473;19322201;22354994;19416867;21258344 23199 C9JLW9;H0Y613;H7C3B5;Q14687 ABBA01034274;ABBA01034275;ABBA01034276;AC123908;AK127344;AK308612;AMYH01007883;AMYH01007884;AMYH01007885;AMYH01007886;AMYH01007887;AW500000;BC000753;BC009854;BC037556;BG288870;BM451214;BM747744;BM979951;BQ214916;CH471114;D80004;GD138010;H09100;HY041236;HY060424;NM_001134473;NM_001278184;NM_014615 AAH00753;AAH09854;AAH37556;BAA11499;BAG54489;EAW95445;EAW95446;EAW95447;EAW95448;EAW95449;NP_001127945;NP_001265113;NP_055430;Q14687 Hs.461647 1661252;1685361;1762967;1858074;2138965;2164169;2164171 A002B17;G19885;RH64936;SHGC-146718;SHGC-61045;SHGC-61075;WI-16844 KIAA0182 Gse1 coiled-coil protein homolog;OTTHUMP00000175005;OTTHUMP00000201345;OTTHUMP00000201346;OTTHUMP00000201347;genetic suppressor element 1 APPROVED protein-coding ENSG00000131149 28979 11066 VALIDATED 1603983 GSN-AS1 GSN antisense RNA 1 9 9 q33.2 123083526 123084149 - 124043705 124044328 - 15164053 57000 Q9NRJ2 AF220263;AL513122;CH471090;NR_103560;XR_040686;XR_040687 AAF89164;EAW87492;Q9NRJ2 Hs.522373 5014023;5022425;5022651 D11S2921;D13S1553;D22S296 MOST2 APPROVED miscrna 23372 PREDICTED 1319081 GSDMC gasdermin C 8 8 8 q24.21 126938559 126977251 - 130829624 130868316 - 130760442 130799134 - 1580863;6480464 11223543;19270707;19051310;17350798;16344560;15489334;12477932;18029348;21738478;20881960;23393555 56169 Q9BYG8;Q9H1C8 AB042405;ABBA01037970;ABBA01037971;AC022849;AJ245876;AMYH01019021;BC035321;BC063595;CH471060;DA437012;NM_031415 AAH35321;AAH63595;BAB40331;CAC21571;EAW92124;NP_113603;Q9BYG8 Hs.133244 MLZE OTTHUMP00000227707;gasdermin-C;melanoma-derived leucine zipper, extra-nuclear factor;melanoma-derived leucine zipper-containing extranuclear factor protein-coding ENSG00000147697 7151 12222 608384 VALIDATED 1353091 GSG2 germ cell associated 2 (haspin) 17 17 17 p13 3638895 3641691 + 3573946 3576742 + 3627197 3629993 + 1580863;6480464 19997740;20237496;11228240;17084365;16565220;15681610;15489334;14702039;12477932;11311556;19910498;20705812;20929775;21658950;21397507;17314511;18029348;22623531;23071152 83903 A0PJ70;Q8TF76 AB039834;ABBA01054743;AC116914;AF289865;AK056691;AK292715;AMYH01008032;BC016626;BC036181;BC047457;BC050662;CH471108;NM_031965 AAH16626;AAH47457;AAK30300;BAB21938;BAB71255;BAF85404;EAW90481;NP_114171;Q8TF76 Hs.534059 5014023;5014051;5015619;5022200;5022578;5037552 D11S3114;D13S1553;D1S1423;D8S2278;D8S2279;L18426 HASPIN H-haspin;OTTHUMP00000115873;germ cell-specific gene 2 protein;haploid germ cell-specific nuclear protein kinase;serine/threonine-protein kinase haspin protein-coding ENSG00000177602 19682 17083 609240 VALIDATED 731783 GSK3A glycogen synthase kinase 3 alpha This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011] 19 19 q13.2 47426178 47438576 - 42734338 42746736 - 1580863;2306093;6480464;6484113 17530463 21436692;11035810;16446437;17569761;8524413;19507191;19336475;19156168;19142874;19136008;18955053;18829575;18516299;18500637;18450971;18285345;18042454;17609434;17325032;17192257;17158447;17052453;16987514;16984735;16934436;16912034;16806170;16757548;16611631;16543145;15631989;15592455;15489334;15194499;15057824;14550568;12890758;12761548;12675919;12665592;12477932;12379450;12086949;12054501;11884598;11749387;11500362;10448973;9809441;8725894;7931292;7715701;15361837;15469820;21775285;20541704;19759537;11481324;14635195;15302935;15324660;16537926;16543730;17139249;19323791;19464003;19656851;19706605;20080974;20113358;7706316;8404858;9468292;20368287;20371704;20831597;11509608;16365045;19705135;21255011;14563837;20920357;20668436;21576335;19366350;19995607;21320285;19131971;21896753;22065737;21139048;21890473;22022450;22326953;22539723;21220517;21718540;22384031;22658458;16371461;17505062;9735171;15678105;22939624;23000965;23352529;23243017;22539113;14645548;18826950;22505724;22328534 2931 A8MT37;P49840 ABBA01040841;ABBA01040842;AC006486;AMYH01009827;BC027984;BC051865;CH471126;CR749620;D63424;L40027;NM_019884 AAA62432;AAD11986;AAH27984;AAH51865;ABM81940;ABM84255;ABM85121;ABM87623;BAA23608;CAH18414;EAW57114;EAW57115;NP_063937;P49840 Hs.466828 1655646;1734654;1734686;2144266;2176700;5015961;5126917;5126919 D15S1477;D19S656E;D19S688E;RH11670;RH45593;RH78012;SHGC-32066;STS-T55612 DKFZp686D0638 GSK-3 alpha;OTTHUMP00000198366;OTTHUMP00000198367;OTTHUMP00000198368;glycogen synthase kinase-3 alpha;serine/threonine-protein kinase GSK3A APPROVED protein-coding ENSG00000105723 4616 06002 606784 VALIDATED 1318256 GSKIP GSK3B interacting protein This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 14 14 14 q32.2 76901748 76909294 + 95915775 95923321 + 96846022 96853568 + 6480464 17353931;16981698;15489334;14702039;12508121;12477932;11042152;19830702;20043192;21328310;20007971 51527 G3V368;G3V4I5;Q9P0R6 ABBA01048595;AF151044;AK000796;AK094654;AK314423;AL359240;AMYH01005977;BC004818;CH471061;DA488110;HY019704;HY051680;HY108584;NM_001271904;NM_001271905;NM_001271906;NM_016472;W04717 AAF36130;AAH04818;BAA91380;BAG52902;EAW81634;EAW81635;NP_001258833;NP_001258834;NP_001258835;NP_057556;Q9P0R6 Hs.4104 1699006;1778434 D14S1158;RH103074 C14orf129;HSPC210;MGC4945 GSK3-beta interaction protein;GSK3beta interaction protein;OTTHUMP00000245995;OTTHUMP00000245998;OTTHUMP00000245999 APPROVED protein-coding ENSG00000100744 20343 16601 REVIEWED 1354196 GSPT2 G1 to S phase transition 2 This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010] X X X p11.22 56241885 56244732 - 51503267 51505769 + 51486481 51489328 + 1580863;6480464;6907045 14702039;12477932;9712840;19417105;18264098;16344560;15987998;12354098;10575220;10358005;16754297;22863883;18447585;21832049;22939629;21906983;21726813;22505724 23708 Q8IYD1 ABBA01059976;AC234030;AI191874;AJ251548;AK001303;AK023155;AK298868;AL929101;AMYH01022344;BC036077;BF514488;CH471230;DA712335;DB173006;NG_016857;NM_018094 AAH36077;BAA91612;BAG60988;CAB91089;EAW62898;NP_060564;Q8IYD1 Hs.59523 1686624;1739951;1858546;2107195 DXS7578;GSPT2__6673;RH26759;RH47573 FLJ10441;GST2;eRF3b OTTHUMP00000023301;eukaryotic peptide chain release factor GTP-binding subunit ERF3B;eukaryotic peptide chain release factor subunit 3b APPROVED protein-coding ENSG00000189369 4622 02334 300418 REVIEWED 733891 GSK3B glycogen synthase kinase 3 beta The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 3 3 q13.3 121028233 121295203 - 119540800 119813264 - 1358650;1300048;1580863;1358649;1302533;1302569;1641844;1581696;1641929;1641931;2293188;2306093;5510026;6480464;6484113;6907045 15254796;12566926;11226152;10894547;17329210;16478782;17357145;16397405;18432252;17530463;20635334 22534782;22246236;19505532;20127713;22658982;21832049;15465828;14744935;11035810;9601641;8638126;14749367;11104755;16188939;8524413;11955436;12000790;12820959;15327769;16753179;19581563;19453261;19429245;19429119;19321622;19289791;19274078;19265551;19237556;19190323;19188159;19180470;19156168;19154537;19148484;19142874;19116273;19107203;19104043;19060929;19050253;19022564;19007860;18996844;18996102;18991351;18955053;18955029;18952601;18855532;18852354;18852124;18838540;18829575;18806775;18804163;18801732;18787224;18786229;18782353;18769147;18768676;18708403;18689794;18687691;18676680;18660489;18632640;18628988;18615589;18606491;18602000;18588978;18552505;18500637;18451303;18450971;18437054;18408738;18391982;18391981;18316598;18316369;18263590;18252708;18243662;18223684;18221734;18219478;18218855;18201972;18195729;18178198;18167338;18156211;18083346;18055457;17991738;17990294;17976739;17972518;17951252;17912008;17908237;17717075;17711861;17697341;17681942;17671694;17628506;17621269;17621172;17609434;17590240;17565981;17562708;17522055;17486076;17475833;17438332;17434145;17389597;17387146;17483602;17368486;17325032;17283049;17273789;17270183;17241872;17233643;17192257;17160944;17159916;17150190;17139249;17107957;17098228;17081983;17072303;17052453;17050006;17046823;17028556;17016438;16987514;16987250;16984735;16982692;16981698;16964243;16959574;16951223;16942622;16934436;16916907;16912034;16893889;16882987;16861141;16788573;16787706;16767496;16757548;16705181;16645641;16611631;16601113;16571670;16551619;16543730;16543145;16537926;16528748;16519508;16462886;16428884;16428445;16421604;16420965;16371352;16365045;16344560;16341242;16315267;16289845;16282323;16278684;16257959;16210249;16198352;16174773;16107342;16076840;16055726;16043125;16027724;16007092;15993040;15981102;9731200;9570753;9566905;9565682;9546672;9482734;9468292;9353289;9199504;8999860;8889548;8861947;8764598;8404858;8382613;8247524;7980435;7706316;7642555;7566346;7514173;6772446;1333807;1330687;1324914;1181841;12183362;18198341;15963640;15951569;15942663;15940626;15799972;15752768;15719395;15631989;15609321;15592455;15555766;15522877;15517997;15489334;15469820;15456937;15379854;15375789;15351432;15345747;15302935;15252116;15231747;15179015;15178691;15178331;15147888;15132987;15073173;15026145;15020233;14991743;14988390;14988008;14985354;14729229;14729058;14691449;14660640;14617795;14561750;14550568;14536078;14523002;14520463;14518171;12969793;12900420;12885254;12871932;12829841;12819195;12808104;12796505;12794074;12778079;12761178;12663502;12603528;12584189;12554650;12477932;12434148;12387897;12387894;12379450;12376533;12364325;12244165;12228224;12226093;12182887;12167628;12162494;12147701;12133000;12130654;12123574;12114015;12095675;12086949;12064478;12063245;12054501;12051714;12048243;11986994;11980723;11967263;11903055;11877389;11818547;11812770;11809746;11781156;11738041;11524435;11500362;11495916;11483158;11481324;11440715;11427888;11425860;11320080;11311121;11181841;11004522;10966653;10936190;10910956;10826493;10753899;10671552;10653665;10587587;10581160;10523816;10488109;10486203;10428961;10428053;10090741;9832503;9832145;9819408;9809441;9771888;9736715;9735171;18172167;18367454;10330181;10330403;11251183;12511557;9734785;11152665;16009706;17353931;15824731;15448698;15829978;15383283;15688030;14636947;22814751;22214783;22419096;22460328;22577147;22586270;22690042;22771494;22939629;20106550;22270359;22349353;19573950;21145761;20541704;20497256;16890161;19411070;20160451;20167573;20226637;19913121;20602615;20605420;20618448;20628086;20644561;20682308;21460223;17991736;18632848;20388706;21189258;20371704;20357815;10567568;11166179;12927815;15361837;15652488;16141410;16247449;16814287;16936772;17078951;17318175;17360711;18045539;19003984;19170196;19249679;19303846;19323791;19401395;19454488;19457211;19472218;19477245;19501118;19528467;19557001;19584164;19607922;19625176;19639192;19656851;19657367;19659461;19681904;19682504;19692168;19706605;19711366;19717166;19727391;19751508;19797085;19823589;19833727;19841191;19874574;19903789;20007971;20008284;20015462;20031160;20033742;20039940;20080974;20103767;20154711;20159967;20190034;20219685;20308328;20333643;20351102;20399743;20453000;20468064;20508983;20513428;19882709;20599907;20178594;20709358;21110852;16115820;16199882;19757160;20204404;20368287;20457218;20562859;20800594;20934407;20454507;20510151;20648061;20649541;15647282;18029348;19754670;20679343;20831597;21038412;20352103;20615469;20525681;20531236;21105670;14563837;20113358;20848477;20889919;21160051;10228155;21217772;21700708;21737790;21757741;20864106;9271238;21278490;21328461;21821001;20448354;21343617;21061060;21303975;11835406;20849862;12527198;21314327;21435461;21436692;21212533;20920357;17512525;22825252;22863953;23160194;23023215;23328640;22855295;21179545;21422248;21661417;21204008;21228102;21317289;18348280;10074433;21527318;19481076;20110283;21443865;19366350;21115199;21790007;9072970;21471285;19995607;21609933;22936801;23628795;22455883;22810307;20561405;21441955;22039301;10347142;14612456;22093618;22140263;19126544;19131971;21118991;21242974;21671254;20484041;21502811;21795403;21873331;21900206;21965288;21334395;21613824;21632881;21238544;21549170;21887250;15678105;19202075;21890473;21988832;22286758;22679108;22682247;22707636;22832527;22832604;22999923;23000965;23352529;19061640;19576224;21139048;22039048;22102280;19470470;22976805;23164673;23166798;23185275;23185298;23192081;19713527;23389291;23820376;12417018;17437043;17437044;19322201;20128690;20647544;21254166;21910689;22193544;22262180;22384031;22509369;22514281;22692215;22751928;22910909;23010592;21159074;21310903;21725365;21898401;22022450;22087308;22142472;22144179;22184106;22201186;22262776;22413565;22539723;22243669;22613765;14690523;21571466;21996267;22234583;22363707;22048123;22834106;22179823;16123141;22419736;22513362;22661511;22687243;22732552;22824801;22893788;14635195;15470047;19698783;23002080;23243017;23277198;22815195;23077590;21130530;22960426;23408424;22785398;23030648;23211630;23349801;22539113;23202730;20682768;22710716;23279147;23507969;23623971;14645548;16039586;18593713;18826950;18973553;19688630;20818790;20856200;20962236;21514616;21985244;22505724;22965877;23011797;22773696;22898789;22933777;19038973;22775567;22970250;23104438;23455922 2932 P49841;Q6FI27 AB451356;ABBA01061571;ABBA01061572;ABBA01061573;ABBA01061574;ABBA01061575;AC069444;AC078856;AC092910;AF074333;AF098789;AK290897;AMYH01013420;AMYH01013421;AY123976;BC000251;BC012760;BX640779;CA312249;CH471052;CR536510;DA477189;EU302497;HH982569;HH982571;L33801;NG_012922;NM_001146156;NM_002093 AAA66475;AAC69340;AAD48517;AAH00251;AAH12760;AAM88578;ABM83427;ABM86640;ABX89591;BAF83586;BAG70170;CAG38748;CBX51856;CBX51857;EAW79533;EAW79534;EAW79535;EAW79536;NP_001139628;NP_002084;P49841 Hs.445733 1707824;1723289;1856312;2112764;2119166;2160847;2162757;5021205;5124734 D3S4449;RH118425;RH16496;RH78108;SHGC-77247;SHGC-82140;STS-AA020957;STS-H65189;WI-21911 GSK-3 beta;GSK3beta isoform;OTTHUMP00000165239;OTTHUMP00000165240;glycogen synthase kinase-3 beta;serine/threonine-protein kinase GSK3B APPROVED protein-coding ENSG00000082701 4617 05418 605004 REVIEWED 1344503 GSPT1 G1 to S phase transition 1 16 16 p13.1 11874040 11917309 - 11961985 12010519 - 1580863;6480464;6907045 15326224;9620853;9712840;12489690;2511002;19424636;19165527;18083835;17700517;17562865;16713569;16582619;16452507;16344560;15987998;15987717;15908960;14702039;12865429;12477932;10493829;10358005;9928949;8889548;2841115;1574740;17577209;18539146;19963113;20562859;14685257;20418951;23019593;18256688;19417104;22863883;22939629;21139048;21693764;21890473;21906983;19322201;21628590;21726813;22379092;18423202;21988832;22101789;22505724 2935 B2RCT6;H3BMT9;H3BR35;H3BSV8;P15170;Q7KZX8 ABBA01006834;ABBA01006835;ABBA01006836;AC007216;AK095367;AK095483;AK096386;AK290382;AK315267;AMYH01007162;AU132091;BC008391;BC009503;BM666324;BT006722;CH471112;DC384910;NM_001130006;NM_001130007;NM_002094;U95742;X17644 AAB67250;AAH09503;AAP35368;BAF83071;BAG37683;CAA35635;EAW85130;EAW85131;EAW85132;NP_001123478;NP_001123479;NP_002085;P15170 Hs.528780 1651768;1658295;1668528;1687439;1690466;1691178;1700980;1742187;1846534;2158985;2160510;2165863;2219792;5015861;5022425;5093126;7185938 A009H09;D10S16;D16S2537E;D22S296;G32536;GDB:193185;GSPT1__6672;RH104117;RH65124;RH69294;RH93394;RH93725;SHGC-52683;SHGC-60753;SHGC-61179;WI-19180 551G9.2;ETF3A;FLJ38048;FLJ39067;GST1;eRF3a G1 to S phase transition protein 1 homolog;eukaryotic peptide chain release factor GTP-binding subunit ERF3A;eukaryotic peptide chain release factor subunit 3a protein-coding ENSG00000103342 4621 00753 139259 VALIDATED 1346375 GSN gelsolin The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q33 123070201 123134941 + 124030380 124095120 + 1599858;1599864;1599866;1599869;1599872;1599873;1580863;6480464;6484113;7240710 2175344;14588109;14574581;8895730;2848627;2829631 1321812;12732734;17353931;17373842;17620599;3020431;14718574;19389844;19246681;19002257;18848913;18822171;18802097;18704746;18656242;18584046;18204200;17982131;17720986;17556051;17534828;17258204;17254575;17178161;17130841;16882345;16556605;16475811;16344560;16217750;16008344;15922735;15538717;15527423;15526166;15489334;15377282;15310273;15281090;15215896;15213223;15033777;14702039;14652020;14596804;14527665;14527664;12966145;12941811;12833632;22340557;12752443;12665801;12655044;12613021;12592377;12578912;12477932;12460571;12270712;12027462;11925941;11753432;11733011;11577104;11171090;11093254;11039896;10945978;10809769;10802062;10793131;10583954;10521462;10329371;10210201;9819354;9671712;9323209;9109384;9003812;8703941;8599675;8395021;8310295;7868127;7849017;7550233;6282935;6092370;2831714;2176481;2157434;2153578;1658654;1652889;1338910;1322359;1315718;1311149;16526095;9164868;16169070;14563843;14530271;19561443;20740538;20810916;20937821;19465002;19549824;19601795;19625752;19666512;19883430;19904968;19956804;20093811;20379614;12601813;22927998;23204381;21182205;22952982;20308691;21498516;15604093;21826592;21798243;21801713;21828045;21139048;21890473;21906983;22706076;22552326;21389683;22190510;21786170;22069445;16300736;20473970;21107322;21940962;21997591;22622774;22939629;22643940;15174051;19805454;22886630;23167427;23537643;22633459;22268729;22814255 2934 B7Z4U6;B7Z5V1;F5H1A8;P06396;Q5T0H7;Q5T0H8;Q5T0H9;Q5T0I0;Q5T0I1 ABBA01016233;ABBA01016234;AI742454;AK092797;AK096280;AK125819;AK295201;AK295572;AK297870;AK299453;AK300631;AK304629;AK304675;AK307859;AK315494;AL049930;AL513122;AL832070;AMYH01021692;BC017491;BC026033;BU151663;BX647999;CH471090;DA294394;DA394782;DA450851;DA823796;DB170452;DB250757;DC316173;DC341948;DC370937;DC378873;NG_012872;NM_000177;NM_001127662;NM_001127663;NM_001127664;NM_001127665;NM_001127666;NM_001127667;NM_001258029;NM_001258030;NM_198252;X04412 AAH17491;AAH26033;ABM83113;ABW03494;BAG37878;BAG52611;BAG53247;BAG54252;BAH12010;BAH12109;BAH12682;BAH13037;BAH13318;BAH14228;BAH14236;CAA28000;CAH10407;EAW87489;EAW87490;EAW87491;NP_000168;NP_001121134;NP_001121135;NP_001121136;NP_001121137;NP_001121138;NP_001121139;NP_001244958;NP_001244959;NP_937895;P06396 Hs.522373 1652177;1710050;1745269;1760135;1790343;1847766;2116856;2123176;2130412;2130582;2165435;2176378;2184188;2191459;5110950 D9S1050E;D9S1953;D9S323;G10520;GDB:597556;GSN;MARC_23632-23633:1027531903:1;RH17399;RH66047;SHGC-132035;SHGC-37121;SHGC-82301;STS-AA029453;STS-X04412;WI-18229 ADF;AGEL;DKFZp313L0718 ADF;AGEL;OTTHUMP00000022011;OTTHUMP00000022014;OTTHUMP00000162202;actin-depolymerizing factor;brevin;gelsolin APPROVED protein-coding ENSG00000148180 4620 00674 105120;137350 REVIEWED 1344623 GSTA5 glutathione S-transferase alpha 5 The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008] 6 6 6 p12.2 54358301 54372656 - 52804499 52818852 - 52696540 52710893 - 1580863;6480464;6907045 18977241;17601350;14574404;12042665;10676639;19664689;20200426;20237496 221357 Q7RTV2 ABBA01050547;AL590363;AMYH01016355;BK000212;CH471081;NM_153699 AAI46333;AAI48817;DAA00071;EAX04386;EAX04387;NP_714543;Q7RTV2 Hs.646984 5125917 RH71356 GST class-alpha member 5;OTTHUMP00000016610;glutathione S-transferase A5;glutathione S-transferase A5-5;glutathione transferase A5 APPROVED protein-coding ENSG00000182793 19662 09620 607605 PROVISIONAL 1606335 GSTA6P glutathione S-transferase alpha 6, pseudogene 6 6 6 p12.2 54331299 54339313 - 52778370 52786473 - 52670244 52678260 - 14726935;8307579;8185623 2942 ABBA01050547;AL590363;AMYH01016354;L13269;NG_001135 2113262;2161790 D6S1024;D6S2399 GSTAP1 APPROVED pseudo 4630 INFERRED 732221 GSR glutathione reductase This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010] 8 8 p21.1 30655977 30704985 - 30535578 30585486 - 1580863;1600697;1600704;1600708;1625122;6480464;6907045 947404;17198913;16338763;12824952 19377255;19124506;18977241;18638483;18341267;17601350;17206382;16868544;16424062;16421571;15978628;15592455;15489334;15149466;14637279;12901426;12838770;12838767;12826156;12630007;12533953;12516882;12477932;12447480;12095224;11710935;11273669;11204445;10708558;9546215;9174360;9151953;8626496;7663973;7334521;7060551;6822532;3656429;2379581;2185014;923580;302667;16169070;19913121;20485444;20628086;16341674;19527700;19560448;19806191;19896490;20200426;20379614;2306116;17185460;8889548;20877624;20628807;20586645;22863883;22939629;21417634;22089180;21139048;21890473;21906983;16236267;16009940;19322201;22944692 2936 E5RI06;H0YBD4;H0YC68;P00390 AB519179;AB519180;AB519181;ABBA01023658;ABBA01023659;ABBA01023660;AC009314;AC103959;AF228703;AF228704;AMYH01018618;AY338490;BC035691;BC069244;BM148117;BM478942;BM838919;CA944703;CH471080;NG_027719;NM_000637;NM_001195102;NM_001195103;NM_001195104;X15722;X54507 AAF37572;AAF37573;AAF37574;AAH69244;AAP88037;BAI43437;BAI43438;BAI43439;CAA33744;CAA38367;EAW63442;EAW63443;EAW63444;EAW63445;NP_000628;NP_001182031;NP_001182032;NP_001182033;P00390 Hs.271510 1674879;1788330;2112046;2112052;2112074;2112290;2128387;2128389;2129869;2141616;2155236;5022322;5091344 A006C09;A008S12;D11S2560;D8S2172;D8S2178;D8S2206;D8S2240;G20694;G67468;RH71277;WI-13416;WI-21247;WI-21746 MGC78522 GR;GRase;OTTHUMP00000225449;OTTHUMP00000225451;glutathione reductase, mitochondrial APPROVED protein-coding ENSG00000104687 4623 00704 138300 REVIEWED 1350888 GSTA7P glutathione S-transferase alpha 7, pseudogene 6 6 6 p12.2 54265354 54271050 - 52712220 52717916 - 52604261 52609957 - 1329668;16344560;1329668 730152 ABBA01050548;AL109918;AMYH01016354;DB320793;NR_033760 Hs.739662;Hs.742634 GSTAP2 APPROVED pseudo 4631 PROVISIONAL 737133 GSTA2 glutathione S-transferase alpha 2 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] 6 6 p12.1 52723140 52736283 - 52614885 52628361 - 1358120;1300048;1580863;1641938;6480464;6907045 10720752;17197701 20434437;3138230;19343046;19339270;19074885;18977241;17601350;17290392;17259654;16006997;15778998;15489334;15128049;14574404;12477932;12139976;12093480;12023294;11692074;11668220;10676639;9230131;8889548;8431482;8307579;8242618;7892174;3901925;3800996;3678589;3036131;3031680;2604726;1627661;1530570;1330133;1497629;1329668;19913121;20628086;19639209;19751749;19859803;20083122;20200426;20237496;20437850;20453000;21163259;21792076;21844655 2939 A8K987;P09210 ABBA01050548;AK292602;AK313601;AL109918;AMYH01016354;BC002895;BE795593;BE796134;BU685446;CH471081;H62933;M16594;NG_029430;NM_000846;S45640;X65727 AAA52616;AAB23672;AAH02895;ABM83917;ABM87238;BAF85291;BAG36367;CAA46642;CAA46643;EAX04384;NP_000837;P09210 Hs.94107 1648338;1667309;1699380;1748295;1748297;1748299;1748301;1855356;5125917 D6S1896;G66730;G66731;G66732;G66733;RH103277;RH1516;RH71356;SGC38393 GST2;GSTA2-2;GTA2;GTH2;MGC10525 GST HA subunit 2;GST class-alpha member 2;GST, class alpha, 2;GST-gamma;HA subunit 2;OTTHUMP00000017883;S-(hydroxyalkyl)glutathione lyase A2;glutathione S-alkyltransferase A2;glutathione S-aralkyltransferase A2;glutathione S-aryltransferase A2;glutathione S-transferase 2;glutathione S-transferase A2;glutathione-s-transferase, alpha type2;liver GST2 APPROVED protein-coding ENSG00000244067 4627 00709 138360 REVIEWED 1349200 GSTA1 glutathione S-transferase alpha 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] 6 6 p12.1 52764347 52776616 - 52656178 52668664 - 1580863;1641938;5490988;6480464;6907045 17197701;20374258 1731620;11851347;3800996;19515364;19448608;19376514;19343046;19076156;19062541;19027952;18992148;18977241;18854779;18791061;18784548;18644106;18641537;18635758;18496131;18476723;18430527;18414193;18300949;18224491;18214047;18186040;18161889;18066575;18065725;17899366;17716224;17644396;17631926;17601350;17425746;17374652;17333241;17197702;17086718;17071629;17021248;16865249;16786188;16624829;16599007;16365014;16280386;16190865;16116487;15952767;15900282;15893769;15808404;15797627;15757902;15746160;15616829;15525789;15489334;15319294;15202795;15182170;15128049;14690442;12871945;12524083;12516103;12477932;12473455;12447480;12211029;12206662;12139976;12093480;12087351;11931663;11747461;11692074;11668220;11550208;11535243;11152686;10213291;10053036;9503014;8889548;8598105;8591048;8431482;8331657;8307579;8242618;8185623;7888077;3678589;3138230;3036131;3031680;2604726;2018473;1530570;1330133;20529827;20672371;17207965;20102361;19491810;19584821;19618965;19639209;19696793;19786980;19789190;19896490;19902075;19953622;19959275;20032816;20056632;20100551;20200426;20207535;20216541;20237496;20331903;20367187;20368715;20377137;20391138;20437058;21169260;21832049;22475179;20833278;21163259;21093063;22959778;21530062;21530499;22002059;22079734;23394311;23824909;21749698;21988832;22697302;21844655;22040239;22633257;23251616;23570881;22906494 2938 P08263 ABBA01050547;AK293371;AK310324;AL590363;AMYH01016354;AY532928;BC053578;BC110891;BG430521;BI762344;BM973137;CA841071;CH471081;CR407656;DC339498;M14777;M15872;M21758;M25627;NM_145740;S49975;S76235 AAA36174;AAA52615;AAA52618;AAA70226;AAB20973;AAB24012;AAH53578;AAI10892;AAT06769;ADQ32574;BAH11495;CAG28584;EAX04385;NP_665683;P08263 Hs.446309 1748297;1748299;1748301;2153341 G66731;G66732;G66733;RH15792 GST2;GSTA1-1;GTH1;MGC131939 GST HA subunit 1;GST class-alpha member 1;GST, class alpha, 1;GST-epsilon;OTTHUMP00000016611;S-(hydroxyalkyl)glutathione lyase A1;glutathione S-alkyltransferase A1;glutathione S-aryltransferase A1;glutathione S-transferase 2;glutathione S-transferase A1;glutathione S-transferase Ha subunit 1 APPROVED protein-coding 4626 00708 138359 REVIEWED 735330 GSS glutathione synthetase Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008] 20 20 q11.2 32979897 33007262 - 33516236 33543601 - 1580863;1599324;1302516;1300048;5508441;6480464;6907045;7240710 8896573;9215686;15693022 7646467;465367;19111905;18977241;17601350;17503480;17234469;17206463;15890065;15489334;15173170;14990577;12638941;12477932;11780052;11167850;10861239;10652368;10450861;9501919;8825653;6137189;6112263;1518371;21105962;19913121;20485444;20628086;20413906;20800579;20439344;10369661;19672693;20200426;20802163;22863883;22939629;21683691;21771585;21139048;21890473;21906983;21963094;21988832;23000965;21044950;22505724 2937 B7Z514;P48637 AB459500;ABBA01019173;ABBA01019174;ABBA01019175;AF485789;AK293144;AK298292;AK311421;AK311567;AK312492;AL133324;AMYH01011867;BC007927;CH471077;DQ074975;NG_008848;NM_000178;U34683 AAB62390;AAH07927;AAL91591;AAY57328;ABM84164;ABM87567;BAG35394;BAG75452;BAH11461;BAH12750;EAW76239;EAW76240;EAW76241;NP_000169;P48637 Hs.82327 2175960;5491429 A006I18;MARC_11817-11818:1029268323:1 GSHS;MGC14098 GSH synthetase;GSH-S;OTTHUMP00000030711;glutathione synthase;glutathione synthetase APPROVED protein-coding ENSG00000100983 4624 03000 231900;266130;601002 REVIEWED 1351230 GSTA3 glutathione S-transferase alpha 3 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 6 6 p12.1 52869403 52882455 - 52761437 52774496 - 1580863;1641938;6480464;6907045 17197701 9480897;19343046;18977241;18426392;17601350;16876319;15595823;15489334;15454730;14574404;12477932;11872752;11418619;8307579;20083122;20200426;20237496;21832049 2940 Q16772;Q5JW84;Q5JW85 AA846513;ABBA01050547;AF020919;AF508266;AI199811;AL121969;AMYH01016355;BC020619;BG573805;CH471081;DQ993361;DT932587;L13275;NM_000847 AAA74634;AAD04712;AAH20619;AAM33360;ABI75350;ABM82315;ABM85490;EAX04390;EAX04391;NP_000838;Q16772 Hs.102484 1750427;5125917 RH71356;SHGC-111737 GSTA3-3;GTA3;MGC22232 GST class-alpha member 3;OTTHUMP00000016614;OTTHUMP00000016615;S-(hydroxyalkyl)glutathione lyase A3;glutathione S-alkyltransferase A3;glutathione S-aralkyltransferase A3;glutathione S-aryltransferase A3;glutathione S-transferase A3;glutathione S-transferase A3-3 APPROVED protein-coding ENSG00000174156 4628 07290 605449 REVIEWED 1320601 GSTA4 glutathione S-transferase alpha 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008] 6 6 p12.1 52950710 52968099 - 52842746 52860178 - 1358120;1580863;1641942;5687771;5687773;5687963;5687772;5687774;5687769;6480464;6907045 10720752;11018474;20150287;14693714;15309552;20964710;22038048;22160604 11851347;19343046;19240061;18977241;18930016;18767114;18676680;18485437;18080870;18065725;17601350;17553661;17290392;16344560;16189514;16054170;16006997;16005854;15489334;14761685;14702039;14574404;12477932;12093480;11884396;11724905;11687296;11640913;11368510;10329152;9820822;9587421;9480897;9461507;20485444;20634891;19170196;19625176;19692168;19751749;20085333;20097730;20157331;20200426;20237496;20966433;20456754;21751261;21890473 2941 O15217;Q5JW88;Q6P4G1 AA709059;ABBA01050546;AF020918;AF025887;AF050059;AF125271;AF125272;AF125273;AK054804;AK315369;AL121969;AL162581;AMYH01016356;AY878121;BC015523;BC063439;BC096817;BG716171;CH471081;CR749474;DA521337;NM_001512;Y13047 AAC39695;AAC72706;AAD04711;AAD27704;AAD27705;AAD27706;AAH15523;AAH63439;AAW56075;ABM81587;ABM84767;BAG37762;BAG51425;CAA73482;CAH18304;EAX04393;EAX04394;EAX04395;EAX04396;EAX04397;EAX04398;EAX04399;NP_001503;O15217 Hs.485557 1745169;1778857;1795958;2132316;2135087;2172702;2175985;2175987;5015959;5020948 A001U27;A008S23;D10S2448;G19664;G35510;GDB:595860;GSTA4_1571;RH16339;SHGC-32108;SHGC-35093 DKFZp686D21185;GSTA4-4;GTA4 GST class-alpha member 4;OTTHUMP00000016624;OTTHUMP00000016625;S-(hydroxyalkyl)glutathione lyase A4;glutathione S-alkyltransferase A4;glutathione S-aralkyltransferase A4;glutathione S-aryltransferase A4;glutathione S-transferase A4;glutathione S-transferase A4-4;glutathione transferase A4-4 APPROVED protein-coding ENSG00000170899 4629 06899 605450 REVIEWED 1349886 GSTM3P1 glutathione S-transferase mu 3 pseudogene 1 20 20 20 p11.22 21555921 21556494 + 21429933 21430706 + 21482034 21482607 + 170523 ABBA01054105;AL133325;AMYH01011770;NG_001040 GSTM3P;dJ984P4.2 APPROVED pseudo 16606 INFERRED 3322399 GSTM2P1 glutathione S-transferase mu 2 (muscle) pseudogene 1 6 6 6 q21 112114198 112115333 - 111474764 111475417 - 111367622 111368757 - 21906983 442245 ABBA01026099;AL357515;AMYH01016591;AY532924;AY532925;NR_002932 AAT06765;AAT06766 Hs.551627 pseudo 38009 VALIDATED 3003935 GSTM3P2 glutathione S-transferase mu 3 pseudogene 2 2 2 153529268 153530261 - 159912507 159913500 - 100421057 ABBA01004858;AC010093;AMYH01011204;NG_021533 2141380 D2S1757 pseudo 38006 INFERRED 1602688 GSTCD glutathione S-transferase, C-terminal domain containing 4 4 4 q24 103929094 104068013 + 106849390 106988327 + 106629941 106768882 + 6480464 14702039;12477932;8125298;20010834;20010835;20332099;21965014;21906983;23284291 79807 B7Z8J7;D6R949;D6R9W2;D6RCC4;D6RCC9;Q8NEC7 ABBA01063735;ABBA01063736;AC008243;AC105391;AK023335;AK225563;AK292355;AK303547;AMYH01014443;AMYH01014444;BC032942;BX648355;CH471057;NM_001031720;NM_024751 AAH32942;ADZ15729;BAB14532;BAF85044;BAH13983;EAX06191;EAX06192;EAX06193;NP_001026890;NP_079027;Q8NEC7 Hs.161429 1658460;1714891;1854251;2141668;2149176 D4S877;RH120440;SHGC-37278;SHGC-50459;STS-N32085 DKFZp686I10174;FLJ13273 OTTHUMP00000161865;OTTHUMP00000161866;OTTHUMP00000219810;glutathione S-transferase C-terminal domain-containing protein protein-coding ENSG00000138780 25806 07823 VALIDATED 1349551 GSTM5P1 glutathione S-transferase mu 5 pseudogene 1 3 3 3 p25.2 12236266 12237372 + 12274296 12274952 - 12299300 12299953 - 2737666 100505557 ABBA01025205;AC091492;AMYH01012983;NG_030102 GST1L;GSTM1L APPROVED pseudo ENSG00000236062 4633 INFERRED 1606879 GSTK1 glutathione S-transferase kappa 1 This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] 7 7 q34 142670686 142676328 + 142960522 142966222 + 6480464;6907045 17353931;11256614;19225211;18774560;18154451;17601350;16381901;16081649;15607001;15489336;14742434;14709161;14702039;12720545;12690205;12477932;11230166;11076863;11042152;8920976;20472488;18029348;19639233;20178365;18624398;22114354;21139048;21890473 373156 C9JNT3;E9PFN5;Q6FII1;Q9Y2Q3 AACC02000107;ABBA01034134;AC073342;AF068287;AF070657;AF087849;AK000640;AK095263;AK289570;AK289580;AK295592;AK299968;AL136938;AMYH01018007;AY486465;AY520571;BC001231;BC050715;BC063425;BC110600;BQ436828;CH236959;CH471198;CR533445;NM_001143679;NM_001143680;NM_001143681;NM_015917 AAD20963;AAF65506;AAH01231;AAH50715;AAH63425;AAI10601;AAP97160;AAS00610;AAS01180;BAF82259;BAF82269;BAG53018;BAG58483;BAG61794;CAB66872;CAG38476;CAL38607;EAL23783;EAW51877;EAW51878;EAW51879;EAW51880;NP_001137151;NP_001137152;NP_001137153;NP_057001;Q9Y2Q3 Hs.390667 1665633;1778601;1849442;2179599;5024756;5093258 A009K20;G32613;RH36256;RH80030;STS-D20042;WI-11576 GST;GST 13-13;GST13;GST13-13;GSTK1-1;hGSTK1 GST class-kappa;OTTHUMP00000202103;OTTHUMP00000202104;OTTHUMP00000202121;OTTHUMP00000227050;OTTHUMP00000227051;glutathione S-transferase k1;glutathione S-transferase kappa 1;glutathione S-transferase subunit 13 homolog APPROVED protein-coding ENSG00000197448 16906 602321 REVIEWED 735264 GSTM2 glutathione S-transferase mu 2 (muscle) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008] 1 1 p13.3 110012214 110019431 + 110210644 110226619 + 1358120;1580863;2302178;6480464;6907045 10720752;18008142 2034681;19343046;19168034;19151192;18551009;18510611;18308613;18065725;18007994;17197702;16344560;16002077;15725629;15489334;14634838;12871945;12486119;12477932;12192076;10676639;9761928;9452477;9164836;8373352;8317488;8242618;8182750;6500576;2345169;2006920;1602151;1530570;19913121;20485444;20628086;21268265;16549767;19696791;19856098;19859803;20200426;20417188;21455499;21454564;21246532;21139048;21906983;17023043 2946 E9PGV1;E9PHN6;E9PHN7;E9PLF1;F6XZQ7;P28161;Q0D2I8 ABBA01068380;AC000031;AK299482;AK309796;AMYH01000935;AMYH01000936;AMYH01000937;AMYH01000938;AMYH01000939;AMYH01000940;BC017836;BC105038;BC105066;BC110380;BM924181;BT019947;CH471122;DA528798;M63509;NM_000848;NM_001142368;X56838 AAA60963;AAI05039;AAI05067;AAI10381;AAV38750;BAG61446;CAA40168;EAW56406;NP_000839;NP_001135840;P28161 Hs.279837 1725611;1788072;1788074;2129183;2129185;2185184;5096354 D6S1881;G62022;G67221;G67222;RH65389;SHGC-12332;UniSTS:33073 GST4;GSTM;GSTM2-2;GTHMUS;MGC117303 GST class-mu 2;GST, muscle;OTTHUMP00000013350;OTTHUMP00000013351;OTTHUMP00000013353;OTTHUMP00000233636;OTTHUMP00000233637;S-(hydroxyalkyl)glutathione lyase M2;glutathione S-alkyltransferase M2;glutathione S-aralkyltransferase M2;glutathione S-aryltransferase M2;glutathione S-transferase 4;glutathione S-transferase M1;glutathione S-transferase M2 (muscle);glutathione S-transferase Mu 2;glutathione s-transferase, mu 2 APPROVED protein-coding ENSG00000213366 4634 00710 138380 REVIEWED 1347598 GSTO3P glutathione S-transferase omega 3, pseudogene 3 3 3 q22.1 128971754 128972549 + 132029025 132030014 + 130546482 130547277 + 12618591 344813 ABBA01059200;AC097105;AMYH01013492;NG_005668 GSTO3P1 APPROVED pseudo 23065 INFERRED 736060 GSTM1 glutathione S-transferase mu 1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 1 1 p13.3 110031965 110037890 + 110230418 110236367 + 1331525;1358668;1358120;2293828;2293798;2293824;2293826;2293830;2306625;2306627;2306628;2306629;2306633;2293800;2293827;2293831;2306632;2293825;2293845;4140941;4140939;4142528;4140943;4142509;4142538;4140921;4140927;4142513;4140932;2314952;4142512;5490998;5490267;5490989;5490265;5490535;5490981;5491000;5490588;5148003;5148007;5490264;5490163;5490167;5491001;5490539;5490260;5490996;5490214;5490993;5490994;5490537;5490237;5490125;5490554;4142517;5148019;5490559;5490962;5490963;6480464;6907045;6906879 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2944 B9ZVX7;E7EWW9;H3BQT3;H3BQZ0;H3BRM6;P09488 ABBA01018398;AC000031;AC000032;AY510272;AY532926;AY532927;BC024005;BC036805;BC095463;BQ436476;CR541868;DB459176;J03817;NG_009246;NM_000561;NM_146421;S62935;X08020;X51451;X68676 AAA59203;AAD13938;AAH24005;AAR85979;AAT06767;AAT06768;ACT64407;ACT64408;ADQ32855;CAA30821;CAA35817;CAA48636;CAG46666;NP_000552;NP_666533;P09488 Hs.301961 1682543;1725611;1745815;1788074;2129183;2129185;5096354 D6S1881;G62022;G67222;GDB:655882;RH64476;SHGC-12332;UniSTS:33073 GST1;GSTM1-1;GSTM1a-1a;GSTM1b-1b;GTH4;GTM1;H-B;MGC26563;MU;MU-1 GST HB subunit 4;GST class-mu 1;HB subunit 4;OTTHUMP00000013346;OTTHUMP00000013347;OTTHUMP00000013348;OTTHUMP00000013349;S-(hydroxyalkyl)glutathione lyase;glutathione S-alkyltransferase;glutathione S-aralkyltransferase;glutathione S-aryltransferase;glutathione S-transferase M1;glutathione S-transferase Mu 1;glutathione s-transferase, mu 1 APPROVED protein-coding ENSG00000134184 4632 00707 138350 REVIEWED 1343931 GSTP1P1 glutathione S-transferase pi 1 pseudogene 1 12 12 12 q13-q14 55947341 55947752 + 54580351 54580762 + 56294084 56294495 + 1427860 2951 ABBA01008393;AC023055;AMYH01004497;NG_004638;X65032 GST3L;GSTP1P;GSTPL;GSTPP APPROVED pseudo 4640 INFERRED 1349768 GSTM3 glutathione S-transferase mu 3 (brain) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 1 1 p13.3 110078077 110084563 - 110276554 110283660 - 1580863;5135038;5135039;5135042;5135040;5135041;5135043;5490267;5688729;5688743;5688745;6480464;6907045 11470996;20577141;15115915;19723343;10067818;10680782;18423940;16598069;15621212 19151192;19074885;19062541;18992148;18990750;18977241;18850183;18676680;18668224;18569590;18551009;18510611;18447907;18258609;18204928;18177825;18065725;17922434;17904251;17716224;17617661;17601350;17565746;2345169;17353931;10037815;19521675;19486347;19424794;19407363;19343046;19339270;19336475;17449559;17372252;17290392;17259654;17220350;17083362;17034008;16985026;16886896;16765145;16760134;16509765;16488179;16328000;16189514;16172217;16112301;16006997;15914277;15829318;15665284;15654505;15525789;15489334;15459020;15338373;15069685;14968442;14735473;14634838;12548461;12477932;12359356;12063626;12016153;11927838;11740339;11692073;11535247;11511301;11408349;11303592;11289100;11173863;11081456;11040079;10587441;9882431;9797707;9230131;8824514;8473333;8404061;8373352;8317488;8242618;8218382;1530570;19913121;20485444;20549140;20628086;20634891;20661821;19060904;19170196;19692168;19696791;19751749;19786980;19789190;19822571;19856098;19860743;19898482;19922706;20029944;20032816;20131310;20136364;20200426;20237496;20391138;20391338;20437850;20461808;20819778;20847076;20970553;21072184;22976281;23077236;21513434;22360420;21800051;21139048;21890473;21900206;21987572;22178446;23036584;23824909;9545290;21963094;23000965;23167362;22505724 2947 P21266;Q6FGJ9 AB209816;ABBA01068382;AF043105;AI201498;AI570401;AK304300;AK313444;AL158847;AMYH01000940;BC000088;BC008790;BC030253;BE392471;BG285419;BT019945;CH471122;CR542108;EF363096;EU136188;J05459;NM_000849;NR_024537 AAA60964;AAC17866;AAH00088;AAH08790;AAV38748;ABM82760;ABO72589;ABV02583;ABW03438;BAD93053;BAG36233;BAG65154;CAG46905;EAW56409;NP_000840;P21266 Hs.2006 1687974;2141579;5022450;5022649;5024039;5037552 D10S275;D11S2875;D16S325;D8S2279;RH93905;STS-H68549 GST5;GSTB;GSTM3-3;GTM3;MGC3310;MGC3704 GST class-mu 3;OTTHUMP00000013355;S-(hydroxyalkyl)glutathione lyase M3;brain GST;brain type mu-glutathione S-transferase;glutathione S-alkyltransferase M3;glutathione S-aralkyltransferase M3;glutathione S-aryltransferase M3;glutathione S-transferase M3 (brain);glutathione S-transferase Mu 3;glutathione S-transferase, Mu-3;hGSTM3-3 APPROVED protein-coding ENSG00000134202 4635 00712 138390 REVIEWED 1606334 GSTM4 glutathione S-transferase mu 4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008] 1 1 p13.3 110000226 110009648 + 110198698 110208123 + 6480464;6907045 8349586;19343046;19336475;19151192;18977241;18551009;17601350;16854533;16344560;16169070;15489334;12477932;12140136;11508575;10905636;10587441;8889548;8471052;8373352;8284940;8276420;8203914;3174634;2006920;1530570;20485444;20529827;20628086;19913121;19584075;19718047;19856098;19898482;20200426;20237496;21906983;21987572 2948 A6NNT0;Q03013;Q4JNT8 ABBA01068380;AC000031;AI949679;AK291880;AMYH01000935;BC015513;BC108729;BI458242;BI791533;BM673461;CH471122;CR541869;DA895954;DQ062813;M96233;M96234;M99421;M99422;NM_000850;NM_147148;NR_024538;X56837;X68677 AAA57346;AAA57347;AAA58623;AAH15513;AAI08730;AAY98515;ABM81584;ABM81585;ABM84765;BAF84569;CAA40167;CAA48637;CAG46667;EAW56402;EAW56403;EAW56404;EAW56405;NP_000841;NP_671489;Q03013 Hs.348387 1340881;1646762;1745815;1760713;1850845;2189465;5016664;5096354 D1S2387;D1S2651;D6S1881;GDB:655882;MARC_6765-6766:992007412:1;SHGC-144243;SHGC-75286;humgstm5 GSTM4-4;GTM4;MGC131945;MGC9247 GST class-mu 4;GST-Mu2;GTS-Mu2;OTTHUMP00000013356;OTTHUMP00000013358;S-(hydroxyalkyl)glutathione lyase M4;glutathione S-alkyltransferase M4;glutathione S-aralkyltransferase M4;glutathione S-aryltransferase M4;glutathione S-transferase M4;glutathione S-transferase Mu 4 APPROVED protein-coding ENSG00000168765 4636 00706 138333 REVIEWED 1343128 GSTM5 glutathione S-transferase mu 5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 108501476 108507502 + 110056388 110062411 + 110254864 110260890 + 1580863;6480464;6907045 8473333;19343046;19336475;19151192;18977241;18551009;17601350;16344560;15489334;14702039;12477932;11684093;9452477;9230131;8317488;10587441;20485444;19856098;20200426;20237496;17207965;20819778;21906983;22178446;22410570 2949 P46439;Q5T8Q9;Q5T8R1;Q5T8R2 ABBA01068381;ABBA01068382;AC000032;AK125820;AK127250;AK289673;AK315260;AL158847;AMYH01000940;BC058881;BI824480;BX281326;CH471122;DB089682;L02321;NM_000851 AAA20040;AAH58881;ADQ32648;BAC86900;BAF82362;BAG37677;EAW56407;EAW56408;NP_000842;P46439 Hs.75652 1670898;2168636;2184238;5016664 D15S1161;G15976;SHGC-75280;humgstm5 GSTM5-5;GTM5 GST class-mu 5;OTTHUMP00000013359;OTTHUMP00000013361;S-(hydroxyalkyl)glutathione lyase M5;glutathione S-alkyltransferase M5;glutathione S-aralkyltransferase M5;glutathione S-aryltransferase M5;glutathione S-transferase M5;glutathione S-transferase Mu 5 APPROVED protein-coding ENSG00000134201 4637 00711 138385 REVIEWED 1345331 GSTO1 glutathione S-transferase omega 1 The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 10 10 q25.1 106004668 106017203 + 106013952 106027222 + 1580863;1358651;5490299;5490514;5491008;5490521;6480464;6907045 14570706;17194543;15917099;21410266;20818931 17484623;10783391;19513904;19152805;19148497;18986335;18977241;18941778;18799873;18720901;18571971;18449862;18427999;18414634;18414193;18400112;18216717;18186040;18065725;17717316;17637926;17617905;17601350;17548696;17158763;16169070;15992993;15901998;15623683;15489334;15164054;15159516;15040808;12928150;12618591;12565892;12477932;11457926;11271497;9988762;9786866;8076819;17450230;22293942;22440634;19913121;20628086;20670920;21094982;20800603;15146197;17213182;8889548;16385451;19624857;19635583;19686770;19859803;19914269;20106899;20200426;20210239;20237496;20367187;20374258;20472488;20532380;20547570;20113212;20562859;21106529;21351650;11511179;22339537;22494505;22522127;21139048;21890473;21906983;22100662;22283150;11035031;21832049;22939629;19738201;21963094;23000965;23086268;22505724;22747749 9446 P78417;Q5TA01;Q5TA02 ABBA01063087;AF212303;AK313680;AL139341;AMYH01003033;AY817669;BC000127;BX537431;CA431506;CF130513;CH471066;CN283947;DB501888;DT220068;NG_023362;NM_001191002;NM_001191003;NM_004832;U90313 AAB70109;AAF73376;AAH00127;AAV68046;BAG36430;CAD97673;EAW49601;EAW49602;EAW49603;EAW49604;NP_001177931;NP_001177932;NP_004823;P78417 Hs.190028 1768910;1851632;5019853;5024583;5095818 G34966;RH67640;RH71268;RH79001;SHGC-37586 DKFZp686H13163;GSTO 1-1;GSTTLp28;P28;SPG-R GSTO-1;MMA(V) reductase;OTTHUMP00000020429;OTTHUMP00000020430;OTTHUMP00000020431;S-(Phenacyl)glutathione reductase;glutathione S-transferase omega 1-1;glutathione S-transferase omega-1;glutathione transferase omega 1;glutathione-S-transferase like;glutathione-dependent dehydroascorbate reductase;monomethylarsonic acid reductase APPROVED protein-coding ENSG00000148834 13312 10401 605482 REVIEWED 1321858 GSTO2 glutathione S-transferase omega 2 The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] 10 10 q25.1 106018621 106049166 + 106028631 106059176 + 1358120;5490299;1358651;5490988;5490514;6480464;6907045 10720752;17194543;14570706;20374258;15917099 19513904;19430957;19152805;18986335;18977241;18941778;18427999;18414634;18398695;18065725;17978102;17601350;17505575;16788846;16761626;15992993;15942673;15489334;15164054;15159516;15040808;12618591;12477932;19913121;20628086;15970797;21113667;20800603;17207965;16385451;19635583;19686770;19731014;19914269;20200426;20210239;20367187;20379614;20472488;20547570;8889548;21094982;19859803;20113212;20045512;22876127;21518482;21906983;22494505;22522127;22040239;23086268;23079717 119391 B4DML4;J3KQ23;Q9H4Y5 ABBA01063087;AK291886;AK296266;AK297522;AK300508;AL139341;AL162742;AMYH01003033;AMYH01003034;AY191318;AY209189;AY350731;BC023583;BC046194;BC056918;BM708208;CH471066;DC341647;NG_023363;NM_001191013;NM_001191014;NM_001191015;NM_183239 AAH56918;AAO23573;AAP47743;AAR02452;ADQ32540;BAF84575;BAG58978;BAG59926;BAG62221;EAW49598;EAW49599;EAW49600;NP_001177942;NP_001177943;NP_001177944;NP_899062;Q9H4Y5 Hs.203634 1849910;2131980;2187428 SHGC-23899;SHGC-56827;STS-N37090 GSTO 2-2;bA127L20.1 GSTO-2;MMA(V) reductase;OTTHUMP00000020440;OTTHUMP00000020441;bA127L20.1 (novel glutathione-S-transferase);glutathione S-transferase omega 2-2;glutathione S-transferase omega-2;glutathione-S-transferase-like protein;glutathione-dependent dehydroascorbate reductase;monomethylarsonic acid reductase APPROVED protein-coding ENSG00000065621 23064 13614 612314 REVIEWED 1641970 GSTTP2 glutathione S-transferase theta pseudogene 2 22 22 22 q11.23 8185816 8201792 - 22715938 22731899 - 24385938 24401899 - 6480464 653399 ABBA01055126;AK127991;AMYH01012657;AMYH01012658;AMYH01012659;AMYH01012660;AP000351;NR_003082 Hs.652398 2127702 AL008646 FLJ46109 pseudo ENSG00000239334 33606 PROVISIONAL 1320681 GSX1 GS homeobox 1 13 13 13 q12.2 9441498 9442807 + 27264780 27266089 + 28366780 28368089 + 1580863;6480464 11731616;18951430;15057823;19460469 219409 Q9H4S2 AB044157;AB044158;ABBA01035742;AL390738;AMYH01004992;CH471075;NM_145657 AAI60140;BAB78692;BAB78693;EAX08418;NP_663632;Q9H4S2 Hs.351785 5492981 UniSTS:483541 GSH1;Gsh-1 GS homeo box protein 1;GS homeobox 1;OTTHUMP00000018173;genomic screened homeo box 1;homeobox protein Gsh-1 protein-coding 20374 11016 PROVISIONAL 1602006 GSTTP1 glutathione S-transferase theta pseudogene 1 22 22 22 q12 8141156 8147155 - 22670595 22677258 - 24340595 24347258 - 12477932 25774 ABBA01055124;AL050257;AMYH01012657;AMYH01012658;AMYH01012659;AMYH01012660;AP000351;BC096726;BC098108;BC098364;BC099710;CH471095;NR_003081 CAB43359;EAW59627 Hs.652490 2110459 HS322B1A_9406 HS322B1A;MGC119755;MGC119756 pseudo 26930 13673 PROVISIONAL 1346537 GTA galactosyltransferase activator 1580863 3097639 2955 Q13540 M14624 AAA35488;Q13540 GGTB1 protein-coding 4644 1625818 GSTT2B glutathione S-transferase theta 2B (gene/pseudogene) 22 22 q11.23 22629601 22633368 - 24299601 24303368 - 6480464 12477932;11181995;9729470;7789971;22676722;19424424;22216261;22001757;18029348 653689 G9J6Q5;P0CG30;Q6ICJ4 AF057175;AF240786;AMYH01012649;AMYH01012650;AMYH01012651;AMYH01012652;AMYH01012653;AMYH01012654;AMYH01012655;AMYH01012656;AMYH01012657;AP000350;AP000351;BC071700;BC146936;NM_001080843 AAH71700;AAI46937;NP_001074312;P0CG30 Hs.656498 1847422;2159187;2219106 D22S1106;GSTT2_2655;STS-R08187 GSTT2P;MGC87963 GST class-theta-2;OTTHUMP00000198466;OTTHUMP00000198467;glutathione S-transferase theta 2;glutathione S-transferase theta 2B;glutathione S-transferase theta-2;glutathione S-transferase theta-2B protein-coding ENSG00000133433 33437 VALIDATED 736934 GSTT1 glutathione S-transferase theta 1 Glutathione S-transferase (GST) theta 1 (GSTT1) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1 and GSTT2. The GSTT1 and GSTT2 share 55% amino acid sequence identity and both of them were claimed to have an important role in human carcinogenesis. The GSTT1 gene is located approximately 50kb away from the GSTT2 gene. The GSTT1 and GSTT2 genes have a similar structure, being composed of five exons with identical exon/intron boundaries. [provided by RefSeq, Jul 2008] 22 22 q11.23 22706141 22714231 - 24376139 24384284 - 704404;1358120;1580863;2293828;2293799;2293829;2293830;2306625;2306627;2306630;2306633;2293800;2293825;2306631;2293845;4140939;4142539;4140924;4140928;4142512;4140932;4140921;4142518;5490213;5491000;5490997;5490271;5490540;5490983;5490553;5148007;5490562;5490587;5490165;5490554;5490537;5490992;5490237;5490962;5490982;6480464;6907045;6906879 10720752;17617661;10564681;17572208;17084623;19102712;17979505;15927971;16620396;9111645;18177825;15492856;14504370;19664521;15300848;20542754;20402821;15928955;20297661;11075422;19701760;10215103;11007341;16002077;17911365;19842992;20401725;19473562;19286687;15526353;11477481;10953187;17565649;21243434;18328165;18952980;21051083;20597111;18544563 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2952 C9JA47;F8WCF3;G3XAK0;G5E9I8;G5E9K8;G5E9P7;H7BZG9;P30711;Q4W251;Q6IC69 AB057594;ABBA01055126;AF240786;AF435971;AJ867757;AJ867758;AJ874719;AP000351;BC007065;BC050410;BM765626;BT019951;CA313466;CH471095;CR456499;NM_000853;X79389;Z84718 AAG02374;AAH07065;AAL31549;AAV38754;ABM84406;ABM87756;BAB39498;CAA55935;CAG30385;CAI30331;CAI30332;CAI44003;CAK54527;CAK54826;EAW59629;EAW59630;EAW59631;EAW59632;EAW59633;EAW59634;EAW59635;NP_000844;P30711 Hs.268573;Hs.738514 1712120;1748303;1748305;1748307;1748309;1748311;2143039;2217390;5015619;5022651;5037552 D11S2921;D11S3114;D16S2954;D8S2279;G54109;G66734;G66735;G66736;G66737;G66738;GSTT1_2791 GST class-theta-1;OTTHUMP00000198547;OTTHUMP00000198549;glutathione S-transferase theta-1;glutathione s-transferase, theta 1;glutathione transferase T1-1 APPROVED protein-coding ENSG00000184674 4641 02700 600436 REVIEWED 1349485 GSTT2 glutathione S-transferase theta 2 Glutathione S-transferase (GSTs) theta 2 (GSTT2) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: Alpha, Mu, Pi, Theta, and Zeta. The theta class members GSTT1 and GSTT2 share 55% amino acid sequence identity and both are thought to have an important role in human carcinogenesis. The theta genes have a similar structure, being composed of five exons with identical exon/intron boundaries. [provided by RefSeq, Jul 2008] 22 22 q11.23 22652314 22656106 + 24322314 24326106 + 1580863;6480464;6907045 7789971;18029348;19339270;19019335;18977241;18449862;18268125;18258609;18186040;17250773;16006997;15654505;15489334;15461802;12871945;12477932;11181995;10975610;10760690;10591208;10426791;9729470;9551553;9037717;8889548;8761485;8617495;8617493;1417752;19528963;19582785;19696791;19751749;19860743;20200426;20437850;21598179;21349909 2953 B5MCL2;G9J6Q5;P0CG29;P0CG30 AA682380;ABBA01055124;AF057172;AF057173;AF057174;AF057176;AF240786;AK312043;AMYH01012656;AP000351;BC002415;BC146929;BC146940;BC146943;BM976631;BU584249;CH471095;CR456374;CR456500;CR456929;L38503;NM_000854 AAB63956;AAC13317;AAG02373;AAH02415;AAI46930;AAI46941;AAI46944;ABM81668;BAG34980;CAG30260;CAG30386;CAG33210;CAK54510;CAK54528;CAK54809;CAK54827;EAW59625;EAW59626;NP_000845;P0CG29 Hs.654462 1847422;2159187;2219106 D22S1106;GSTT2_2655;STS-R08187 GSTT2B;MGC182032 GST class-theta-2;Glutathione S-transferase theta-2B;OTTHUMP00000198491;OTTHUMP00000198492;glutathione S-transferase theta-2 APPROVED protein-coding ENSG00000099984 4642 02701 600437 VALIDATED 732257 GSTP1 glutathione S-transferase pi 1 Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008] 11 11 q13 67107862 67110699 + 67351066 67354124 + 1358669;1331525;737707;1580863;1357965;1641942;4142524;4142515;4142523;4140935;4140942;4140944;2317823;4140946;4140948;4140949;4140950;2317805;4140947;4142520;4142527;2317804;2317808;2317806;2317809;4140945;4142517;4142522;4140940;4142514;2317811;4142525;4142526;4140951;4140938;4142516;4142519;2317198;4142511;5490233;5490234;5490991;5490125;5490963;5490271;5490985;5490124;5490267;5491007;5491002;5490995;5490250;5148021;5490540;5490249;5490999;5490123;5490981;6480464;6903953;6903954;6906879;6906882;6906883;6906878;6907045;5133266 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65248;22228263;23144854;23182048;23227845;23330092;22158036;22339038;22920299;22441341;22732554;23570881;23622008;22053931;22505724;22565211;22797925;22889670;22903474;23054023;23167352;22497954;23178631;23028472 2950 A8MX94;P09211 ABBA01024027;ABBA01024028;AMYH01003747;AP001184;AY324387;AY579414;BC010915;BC044846;BT019949;BT019950;CA946272;CH471076;CR450361;GQ141553;GQ141554;M24485;NG_012075;NM_000852;U12472;U21689;U30897;U62589;X06547;X08058;X08094;X15480 AAA56823;AAA64919;AAC13869;AAC51237;AAC51280;AAH10915;AAP72967;AAV38752;AAV38753;ABM83664;ABM86911;ACT66687;ACT66688;CAA29794;CAA30847;CAA30894;CAA33508;CAG29357;EAW74648;EAW74649;EAW74650;NP_000843;P09211 Hs.523836 1722373;1743123;1772338;2112538;2147253;5125556;5491653 D11S4609;D11S4906;G60258;GDB:270066;GSTP1;MARC_5389-5390:996690338:1;RH47100 DFN7;FAEES3;GST3;GSTP;PI GST class-pi;GSTP1-1;OTTHUMP00000174659;OTTHUMP00000174660;deafness, X-linked 7;fatty acid ethyl ester synthase III;glutathione S-transferase P;glutathione S-transferase pi;glutathione s-transferase, pi 2 APPROVED protein-coding ENSG00000084207 4638 00614 134660 REVIEWED 1602642 GSX2 GS homeobox 2 4 4 4 q12 52465927 52467801 + 54660955 54662879 + 54966248 54968122 + 6480464 22242181;15489334;12477932;12205114;11861295;17474147;19709628;21368052 170825 B2LYG3;D6R903;Q9BZM3 AB028838;ABBA01003397;AC110298;AF306344;AF439445;AI360912;AMYH01014184;BC075089;BC075090;CH471057;EU596451;NM_133267 AAH75089;AAH75090;AAK00880;AAM08285;ABZ92381;ACC61188;BAB84822;EAX05456;NP_573574;Q9BZM3 Hs.371899 2220442;5494043 UniSTS:480803;UniSTS:482364 GSH2 GS homeobox 2;OTTHUMP00000158879;OTTHUMP00000218644;homeobox protein GSH-2 protein-coding 24959 13612 VALIDATED 1354274 GTDC1 glycosyltransferase-like domain containing 1 2 2 2 q22.3 138416309 138773953 - 144420051 144768530 - 144703581 145090083 - 6480464 15068588;14702039;12477932;19826048;20379614;21821951;21832049;23251661 79712 B8ZZ45;C9J2C5;C9JIH3;F2Z2V8;G1UFN1;G5EA49;H7BYJ5;Q9HAE5 AB112440;AB201269;AB597184;ABBA01028053;ABBA01028054;ABBA01028055;ABBA01028056;ABBA01028057;ABBA01028058;ABBA01028059;ABBA01028060;ABBA01028061;AC009957;AC010130;AC010681;AC016910;AF086278;AF090899;AK021815;AK091684;AK126774;AK291357;AMYH01011146;AMYH01011147;AMYH01011148;AMYH01011149;AY281366;BC017741;BC061699;BX647436;BX647773;CH471058;NM_001006636;NM_001164629;NM_024659 AAF24023;AAH17741;AAH61699;AAQ16408;AAX93056;AAX93131;AAY14764;BAB13904;BAE16560;BAF84046;BAK74843;EAX11579;EAX11580;EAX11581;EAX11582;EAX11583;EAX11584;EAX11585;NP_001006637;NP_001158101;NP_078935;Q4AE62 Hs.44780;Hs.724028;Hs.724213 1342186;1673405;1700708;1706802;1710954;1716401;1728659;1730761;1856017;1856595;2130933;2143283;2183445;2185333;2185450;2190965;5014051;5037552;7188835;7188839 D2S1295;D2S132;D2S1799;D2S203E;D2S2742;D8S2278;D8S2279;G63621;MARC_12151-12152:1004707695:1;RH103977;RH121381;RH69566;SGC30120;SHGC-57993;SHGC-80875;SHGC-84452;UniSTS:147788;WI-18125 FLJ44822;Hmat-Xa;mat-Xa OTTHUMP00000162654;OTTHUMP00000162655;OTTHUMP00000204553;OTTHUMP00000204554;OTTHUMP00000204555;OTTHUMP00000237436;glycosyltransferase-like 1;glycosyltransferase-like domain-containing protein 1;mannosyltransferase candidate;mannosyltransferase-like protein-coding ENSG00000121964 20887 13615 610165 VALIDATED 1352057 GSTZ1 glutathione S-transferase zeta 1 This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2008] 14 14 q24.3 76857107 76867693 + 77787230 77797940 + 1580863;6480464;6907045 9396740;11327815;10373324;17474147;9417084;19343046;19074885;18977241;18776599;18676680;18628685;18373941;17601350;17034008;16609361;16189514;15489334;15288444;15173170;14702039;12508121;12485442;12477932;11737895;11692075;11640913;10739172;9925947;9815194;9531472;15889141;18029348;19170196;19625176;19692168;19859803;20200426;20201926;20214911;20453000;17207965;20675267;21107728;21183226;22561244;22729907;21823988;21139048;21948024;22028318;21382349;23299908;22374552 2954 G3V267;G3V3B9;G3V4T6;G3V5G8;G3V5T0;G3V5U6;H0YJN8;Q7Z610 AB209360;ABBA01030654;ABBA01030655;AC007954;AF053545;AF098318;AJ001838;AK094344;AK309054;AK315154;AK315609;AMYH01005881;AY316305;BC001453;BC052245;BE958109;BG330365;BG772450;BI559916;BI829992;CH471061;CR456987;NM_001513;NM_145870;NM_145871;U86529 AAB96392;AAC33591;AAD43007;AAF62559;AAH01453;AAP69526;ADQ33195;BAD92597;BAG37600;BAG37978;CAA05045;CAG33268;EAW81278;EAW81279;EAW81280;EAW81281;NP_001504;NP_665877;NP_665878;O43708 Hs.655292 1748313;1748315;1748317;1794874;2128145;5022200;5022651 D11S2921;D14S641E;G66716;G66717;G66718;L18426;PMC64834P1 GSTZ1-1;MAAI;MAI;MGC2029 OTTHUMP00000246405;OTTHUMP00000246406;OTTHUMP00000246407;OTTHUMP00000246408;OTTHUMP00000246409;OTTHUMP00000246410;OTTHUMP00000246413;S-(hydroxyalkyl)glutathione lyase;glutathione S-alkyltransferase;glutathione S-aralkyltransferase;glutathione S-aryltransferase;glutathione s-transferase Zeta 1;glutathione transferase zeta 1;maleylacetoacetate isomerase;maleylacetone isomerase APPROVED protein-coding ENSG00000100577 4643 04785 603758 REVIEWED 1606199 GTDC2 glycosyltransferase-like domain containing 2 This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012] 3 3 3 p22.1 43058234 43085072 - 43095730 43122569 - 43120721 43147575 - 6480464 15489334;14702039;12477932;22958903;21832049 84892 Q8NAT1 ABBA01024760;AC092042;AK027472;AK092147;AK124737;AMYH01013117;BC004508;BC021220;BC060861;CH471055;NG_032930;NM_032806 AAH60861;ADZ15625;BAB55137;BAC03816;BAG54085;EAW64690;EAW64691;EAW64692;NP_116195;Q8NAT1 Hs.745002 1652889;1710560;1721713;1764459 G59721;SHGC-148060;SHGC-82380;WI-14339 AGO61;C3orf39;FLJ14566;MDDGA8 OTTHUMP00000164032;OTTHUMP00000209937;extracellular O-linked N-acetylglucosamine transferase-like;glycosyltransferase;glycosyltransferase-like domain-containing protein 2;uncharacterized glycosyltransferase AGO61 APPROVED protein-coding ENSG00000144647 25902 07863 614828;614830 VALIDATED 1602495 GTF2A1L general transcription factor IIA, 1-like The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of TFIIA on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008] 2 2 p16.3 48698452 48813791 + 48844937 48906748 + 6480464 10364255;16966320;16646664;16525715;15489334;12477932;12107178;11889132;11784080;11159353;9482861;8759016;8125298;20379614;11329013;20211142;21151128 11036 C9J2C1;C9JJY0;F8WE56;H0Y8M0;Q9UNN4 ABBA01075197;AC073082;AC087816;AF106857;AI037906;AK223350;AK302220;AMYH01010339;BC025991;BC064585;BG207854;BG717289;CH471053;NG_033050;NM_001193487;NM_006872 AAD39634;AAH25991;AAH64585;ABM82492;ABM85682;BAD97070;BAG63576;EAX00193;EAX00194;NP_001180416;NP_006863;Q9UNN4 Hs.732016 2110955;2111448;5016328;5017923 D2S215E;D2S2548;LHCGR;RH69506 ALF;MGC26254 GTF2A1-like factor;OTTHUMP00000159452;OTTHUMP00000200508;OTTHUMP00000201062;OTTHUMP00000201165;OTTHUMP00000201180;TFIIA alpha/beta like factor;TFIIA large subunit isoform ALF;TFIIA-alpha and beta-like factor;TFIIA-alpha/beta-like factor;general transcription factor II A, 1-like factor APPROVED protein-coding ENSG00000242441 30727 05640 605358 REVIEWED 737167 GTF2A2 general transcription factor IIA, 2, 12kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008] 15 15 q22.2 57718358 57736987 - 59930261 59949737 - 1580863;6480464 9405375;7724559;8626665;7958900;7958899;8946909;1939271;2449431;15489334;14570910;12477932;12107178;11564872;11509574;11340159;11005381;10570139;10567404;10364255;9603936;8849451;8764062;8577725;8224850;8224848;17353931;17643375;20811636;21906983;21489275;22505724;22834489 2958 A8MYR4;B2R506;H0YK39;P52657 ABBA01038957;ABBA01038958;AC092755;AK312015;AMYH01006685;BC000287;BC001919;BT007362;CH471082;CR542192;CV572751;DB531003;NM_004492;U14193;U21242;X81713 AAA64951;AAB58247;AAH00287;AAH01919;AAP36026;ABM82171;ABM85357;BAG34953;CAA57357;CAG46989;EAW77573;EAW77574;NP_004483;P52657 Hs.512934 1659516;1666828;1695022;2147383;2172125 D15S1163;G44724;STS-N32216;STS-U14193;WI-11900 HsT18745;TF2A2;TFIIA OTTHUMP00000163600;OTTHUMP00000196512;OTTHUMP00000196513;OTTHUMP00000196514;OTTHUMP00000196515;TFIIA p12 subunit;TFIIA-12;TFIIA-gamma;TFIIAS;general transcription factor IIA subunit 2;general transcription factor iia, 2 (12kd subunit);transcription initiation factor IIA gamma chain;transcription initiation factor IIA subunit 2 APPROVED protein-coding ENSG00000140307 4647 02747 600519 VALIDATED 1347219 GTF2F2P1 general transcription factor IIF, polypeptide 2 pseudogene 1 4 4 4 q31.22 145748376 145749514 + 148646591 148647912 + 148427241 148428379 + 14506279;12370301;9847074;7835093 2964 ABBA01070057;AC093908;AMYH01014602;NG_003013;NG_013343 GTF2F2L;TFIIF APPROVED pseudo 4654 INFERRED 4145165 GTF2F2P2 general transcription factor IIF, polypeptide 2 pseudogene 2 1 1 1 p34.2 39341698 39342388 - 40831929 40858738 - 41059305 41059995 - 728633 ABBA01023168;AL031289;AMYH01000537;NG_022719 1336335;1771882 D1S2706;SHGC-74662 pseudo 39092 INFERRED 733620 GTF2A1 general transcription factor IIA, 1, 19/37kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010] 14 14 q31.1 80716147 80757328 - 81641796 81687575 - 1580863;6480464 8224850;8006019;9405375;8946909;18029348;1939271;2449431;17681538;17596959;17081983;16537915;15489334;15257296;14702039;14570910;12972251;12538582;12508121;12477932;12054857;11564872;11509574;11340159;11278496;10570139;10454579;10364255;9812988;9618479;9603936;8889548;8577725;8224848;7958900;7958899;7724559;1876184;8849451;8764062;10567404;17353931;15601843;17643375;18950845;19724865;8626665;9880542;19235719;19336002;20936779;22863883;20811636;22939629;21139048;2247058;15576338;22412018;21489275;22834489 2957 J3KNC0;P52655 ABBA01030611;ABBA01030612;AC010582;AK021641;AK025178;AL136040;AMYH01005902;AMYH01005903;BC041410;BC050703;BC107155;BC107156;BX493028;CB240876;CH471061;D14886;D14887;NM_001278940;NM_015859;NM_201595;NR_048573;X75383;X77225 AAF26776;AAI07156;AAI07157;ABZ92147;ABZ92422;BAA03603;BAA03604;CAA53151;CAA53152;CAA54442;EAW81334;EAW81335;NP_001265869;NP_056943;NP_963889;P52655 Hs.592334 1684102;1712671 RH121039;RH91335 FLJ21525;MGC129969;MGC129970;TF2A1;TFIIA;TFIIA-42;TFIIAL OTTHUMP00000245978;OTTHUMP00000245980;TFIIA alpha, p55, isoform 1;TFIIA-42;TFIIAL;general transcription factor 2a, 1;general transcription factor IIA subunit 1;glucose regulated protein, 58kD pseudogene;transcription initiation factor IIA subunit 1;transcription initiation factor TFIIA 42 kDa subunit APPROVED protein-coding ENSG00000165417 4646 02748 600520 VALIDATED 1315703 GTF2E1 general transcription factor IIE, polypeptide 1, alpha 56kDa 3 3 q21-q24 121944248 121984606 + 120461558 120501916 + 1580863;6480464 7926747;9405375;8946909;1956398;1939271;2449431;18354501;18160537;16344560;15385556;12665589;12477932;11509574;11416139;11113176;10827951;9765293;9677423;9632676;9418848;9305922;9121429;9054383;8934526;8849451;8162052;8152490;8125298;7829083;7667268;7651391;3029109;2251258;2026628;1956403;1454543;9159119;16547462;17643375;18950845;9271120;19106100;20211142;23064645;21832049;22863883;22939629;19322201;21139048;15282296;10454562;23251661;21489275 2960 C9IYL4;C9J329;E9PER7;P29083 ABBA01016492;AC117472;AK223401;AMYH01013424;BC005917;CH471052;DA498425;NM_005513;S67859;X63468 AAB20413;AAH05917;AAI56225;AAI56998;BAD97121;CAA45068;EAW79519;NP_005504;P29083 Hs.445272 1762263;2129420;2135326;2217392;5022578 D1S1423;GTF2E1_3370;SHGC-146121;SHGC-35449;STS-S67859 FE;TF2E1;TFIIE-A OTTHUMP00000216144;TFIIE-alpha;general transcription factor IIE 56 kDa subunit;general transcription factor IIE subunit 1;transcription initiation factor IIE subunit alpha protein-coding ENSG00000153767 4650 01799 189962 VALIDATED 731364 GTF2B general transcription factor IIB This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008] 1 1 p22-p21 89090909 89129889 - 89318321 89357301 - 1580863;6480464 20226668;7671313;8006019;15207693;9405375;8946909;1939271;2449431;19193635;18768974;16878124;16710414;16595664;15989968;15635413;15489334;15342556;15249124;15037660;15024075;14963322;14641108;14612417;14585974;12972613;12931194;12791683;12665589;12578358;12535529;12529369;12477932;12392551;12167624;11959865;11149922;11118327;11113176;11080476;11045620;11029584;11005381;10704334;10478848;10409729;10359081;10220372;9892017;9874563;9841876;9812988;9765293;9765201;9722567;9292011;9267036;9121429;9058380;8889549;8870495;8849451;8800208;8754792;8662660;8598193;8566795;8413269;8162052;7913207;7848298;7757816;7707528;7707527;7706261;7675079;7651839;7641693;7609079;7608968;7597030;1946368;1876184;1517211;15353294;15265780;15142377;9159119;9089417;9305922;11416169;9295363;9315662;11864601;11782371;12660246;15710329;8621548;19235719;16449650;20880846;10330164;10449590;10756192;15013781;15604728;17643375;19590095;8524305;15081896;15197246;17994014;9611234;20398657;9054408;10619841;22939629;9259327;23115335;15282305;19393171;21139048;21890473;21896726;21906983;22079093;10454562;18562274;21988832;23000965;23184937;23251661;19275580;20347598;21489275;22505724;9177216 2959 B1APE1;B1APE2;Q00403 AA031701;AB451296;ABBA01045591;ABBA01045592;ABBA01045593;AI457606;AK289822;AL445991;AMYH01000777;BC020597;BP379342;CH471097;F07886;M76766;NM_001514;S44184 AAA61149;AAB23144;AAH20597;ABZ92423;BAF82511;BAG70110;EAW73159;EAW73160;NP_001505;Q00403 Hs.481852 1650229;1654309;1654485;2133575 A002M34;D1S3261;RH12661;RH70846 TF2B;TFIIB OTTHUMP00000012347;OTTHUMP00000012348;OTTHUMP00000012349;RNA polymerase II transcription factor IIB;S300-II;general transcription factor TFIIB;transcription initiation factor IIB APPROVED protein-coding ENSG00000137947 4648 08928 189963 REVIEWED 1320859 GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa 8 8 p12 30555573 30635280 - 30436031 30515738 - 1580863;6480464 9271120;7926747;8999876;9405375;8946909;1956398;1939271;2449431;19210545;15489334;12665589;12477932;11509574;11416139;11113176;10827951;10792464;10777215;9677423;9618479;9418848;9121429;9089417;9054383;8934526;8849451;8786118;8152490;7876263;7651391;3029109;2251258;2026628;1956404;8628277;19106100;16547462;17643375;19861958;21832049;22863883;22939629;21139048;18029348;21489275;20125193;23064645 2961 E5RH41;E5RIW4;E5RK24;P29084 ABBA01023661;ABBA01023662;ABBA01023663;AC102945;AC103959;AF292062;AMYH01018618;BC001775;BC030572;CH471080;NM_002095;S67861;X63469 AAB20414;AAG39077;AAH30572;CAA45069;EAW63446;EAW63447;EAW63448;EAW63449;NP_002086;P29084 Hs.77100 1659486;1662499;1669190;1684393;1700398;1767624;2112042;2112288;2112358;2162212;2174067 D8S1862;D8S2166;D8S2214;D8S2241;G32125;G36444;RH103819;RH11463;RH47774;RH93000;WI-19229 FE;TF2E2;TFIIE-B OTTHUMP00000225416;TFIIE-beta;general transcription factor IIE subunit 2;transcription initiation factor IIE subunit beta protein-coding ENSG00000197265 4651 01800 189964 VALIDATED 1343690 GTF2F1 general transcription factor IIF, polypeptide 1, 74kDa 19 19 p13.3 6330580 6344291 - 6379580 6393291 - 1580863;6480464 7854423;7590250;7667268;9405375;12226669;8946909;1734284;1939271;2449431;9409616;9512541;9790902;12676794;1734283;19215094;18950845;18284209;17848138;17081983;16964243;16905668;16097034;16083285;15831464;15635413;15489334;15351637;15023052;12732728;12721286;12591941;12578358;12477932;12354769;12351650;11509574;11248041;11183778;11118325;11113176;10777215;10704353;10567562;10454543;10428810;9765293;9765201;9677423;9660973;9265625;9238003;9121429;8934526;8849451;8755740;8662660;8625415;8486367;8441635;8106390;7566098;1559613;12775419;12089333;15723517;9858607;9482861;11118327;10490622;9089417;8628277;9159119;7926747;8794892;9315662;9305922;16169070;9710619;15893730;18029348;20211142;16548883;16878124;17137291;17643375;7890767;16159877;16204234;22863883;22939629;12591939;12737519;15282305;20360068;21896726;22343046;21139048;21890473;21906983;15711563;22244332;15053879;21489275 2962 E7EUG6;M0QXD6;M0R0R9;M0R0Z3;P35269 AA323384;ABBA01055961;AC011491;AK293124;AK302178;AK315240;AMYH01009372;BC000120;BC013007;BT007097;CH471139;CR456798;NM_002096;X64002;X64037 AAH00120;AAH13007;AAP35761;ABM84692;ABM92214;BAG37667;BAG56676;BAG63544;CAA45404;CAA45408;CAG33079;EAW69098;EAW69099;NP_002087;P35269 Hs.68257 1649228;1658618;2131585;2148317;7187091 RH47762;RH67894;SHGC-35441;STS-X64037 BTF4;RAP74;TF2F1;TFIIF OTTHUMP00000237859;TFIIF-alpha;general transcription factor IIF 74 kDa subunit;general transcription factor IIF subunit 1;transcription initiation factor IIF subunit alpha;transcription initiation factor RAP74 protein-coding ENSG00000125651 4652 01803 189968 VALIDATED 2298824 GTF2H2B general transcription factor IIH, polypeptide 2B (pseudogene) 5 5 q13.2 69746972 69779641 + 69711197 69746189 + 14702039;12477932;15252450 653238 AC145034;AC146944;AF086359;AK093949;AMYH01015147;AMYH01015148;AMYH01015149;AMYH01015150;AMYH01015151;AMYH01015152;AMYH01015153;AMYH01015154;AMYH01015155;AMYH01015156;AMYH01015157;AMYH01015158;AMYH01015159;AMYH01015160;AMYH01015161;AMYH01015162;AMYH01015163;AMYH01015164;AMYH01015165;AMYH01015166;AMYH01015167;AMYH01015168;AMYH01015169;AMYH01015170;AMYH01015171;AMYH01015172;AMYH01015173;AMYH01015174;AMYH01015175;AMYH01015176;AMYH01015177;AMYH01015178;AMYH01015179;AMYH01015180;AMYH01015181;AMYH01015182;AMYH01015183;AMYH01015184;AMYH01015185;AMYH01015186;AMYH01015187;AMYH01015188;AMYH01015189;AMYH01015190;AMYH01015191;AMYH01015192;AMYH01015193;AMYH01015194;AMYH01015195;AMYH01015196;AMYH01015197;AMYH01015198;AMYH01015199;AMYH01015200;AMYH01015201;AMYH01015202;AMYH01015203;AMYH01015204;AMYH01015205;AMYH01015206;AMYH01015207;AMYH01015208;AMYH01015209;AMYH01015210;AMYH01015211;AMYH01015212;AMYH01015213;AMYH01015214;AMYH01015215;AMYH01015216;AMYH01015217;AMYH01015218;AMYH01015219;AMYH01015220;AMYH01015221;AMYH01015222;AMYH01015223;AMYH01015224;AMYH01015225;AMYH01015226;AMYH01015227;AMYH01015228;AMYH01015229;AMYH01015230;AMYH01015231;AMYH01015232;AMYH01015233;AMYH01015234;AMYH01015235;AMYH01015236;AMYH01015237;AMYH01015238;AMYH01015239;AMYH01015240;AMYH01015241;AMYH01015242;AMYH01015243;AMYH01015244;AMYH01015245;AMYH01015246;AMYH01015247;AMYH01015248;AMYH01015249;AMYH01015250;AMYH01015251;AMYH01015252;AMYH01015253;AMYH01015254;AMYH01015255;AMYH01015256;AMYH01015257;AMYH01015258;AMYH01015259;AMYH01015260;AMYH01015261;AMYH01015262;AMYH01015263;AMYH01015264;AMYH01015265;AMYH01015266;AMYH01015267;AMYH01015268;AMYH01015269;AMYH01015270;AMYH01015271;AMYH01015272;AMYH01015273;AMYH01015274;AMYH01015275;AMYH01015276;AMYH01015277;AMYH01015278;AMYH01015279;AMYH01015280;AMYH01015281;AMYH01015282;AMYH01015283;AMYH01015284;AMYH01015285;AMYH01015286;AMYH01015287;AMYH01015288;AMYH01015289;AMYH01015290;AMYH01015291;AMYH01015292;AMYH01015293;AMYH01015294;AMYH01015295;AMYH01015296;AMYH01015297;AMYH01015298;AMYH01015299;AMYH01015300;AMYH01015301;AMYH01015302;AMYH01015303;AMYH01015304;AMYH01015305;AMYH01015306;AMYH01015307;AMYH01015308;AMYH01015309;AMYH01015310;AMYH01015311;AMYH01015312;AMYH01015313;BC171919;BX537982;DQ786239;NR_033417 AAI71919 Hs.607501 2161191;5015879;5015961;5021516;5022578;5022588;5024421;5037552;5111881;5114022;5120536;5123519 A007J09;D11S4687;D15S1477;D1S1423;D5S1597E;D8S2279;GDB:314949;GDB:344498;RH46577;RH93537;SGC44462;SHGC-58588 DKFZp686M0199;DKFZp686P18101;MGC198634 APPROVED pseudo 31393 VALIDATED 2302830 GTF2H2C general transcription factor IIH, polypeptide 2C 5 5 q13.2 68891807 68924486 + 68856051 68888730 + 6480464;6907045 12477932;15252450 728340 D6RAW1;D6RGC9;D6RID8;D6RIT7;D6RJD3;F5GZM1;Q6P1K8 ABBA01110158;ABBA01190087;AC142525;AC145102;AC147575;AK292361;AK315282;BC105980;BC157894;BC171860;DQ786295;NM_001098728 AAI05981;AAI71860;BAF85050;BAG37691;NP_001092198;Q6P1K8 Hs.191356;Hs.422901 2161191;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;SGC44462 DKFZp686P18101;FLJ77682;GTF2H2D;MGC102806;MGC198575 OTTHUMP00000221910;OTTHUMP00000221911;OTTHUMP00000221912;OTTHUMP00000221932;general transcription factor IIH polypeptide 2-like protein;general transcription factor IIH subunit 2-like protein;general transcription factor IIH, polypeptide 2, 44kDa-like protein-coding ENSG00000183474 31394 PROVISIONAL 2302833 GTF2H2D general transcription factor IIH, polypeptide 2D q13.2 6907045 12477932;15372022 730394 Q6P1K8 AC138827;BC064557;BC065021;BX647445;NM_001042490 AAH64557;AAH65021;NP_001035955;Q6P1K8 Hs.422901 2161191;5037552 D8S2279;SGC44462 DKFZp686M0199;GTF2H2C;MGC75049;MGC75050 OTTHUMP00000221911;OTTHUMP00000221912;OTTHUMP00000221932;general transcription factor IIH polypeptide 2-like protein;general transcription factor IIH subunit 2-like protein;general transcription factor IIH, polypeptide 2, 44kDa-like protein-coding 35418 PROVISIONAL 733447 GTF2F2 general transcription factor IIF, polypeptide 2, 30kDa 13 13 q14 44592672 44756237 + 45694631 45858240 + 1580863;6480464 7929273;9405375;12226669;8946909;18029348;1939271;2449431;9409616;9512541;9790902;12676794;19215094;16344560;16169872;16083285;15635413;15489334;14612417;12737519;12477932;11278533;11113176;10704353;10523626;10454543;9765201;9689043;9677423;9295363;9265625;9238003;9121429;9089417;8934526;8849451;8794892;8758937;8662660;8628277;8577725;8441635;8162052;3860504;2477704;1840667;1559613;12775419;12089333;7926747;9305922;16878124;17643375;16712791;22863883;22939629;15282305;21890473;21896726;21906983;21489275 2963 P13984 ABBA01021216;ABBA01021217;ABBA01021218;ABBA01021219;ABBA01021220;ABBA01021221;ABBA01021222;AK291545;AL138693;AL138963;AMYH01005084;AMYH01005085;BC001771;BT019525;CA429230;CB124466;CH471075;DB252856;NM_004128;X16901;X59745 AAH01771;AAV38332;ACE86726;ACE87412;BAF84234;CAA34775;CAA42419;EAX08726;EAX08727;EAX08728;EAX08729;NP_004119;P13984 Hs.654582 1681684;1730431;1788188;1788202;1849039;2115438;2131522;2147872;2175922;2217394 A004S30;D13S190;D13S808;G67441;G67442;GTF2F2_3372;RH44730;SHGC-11937;STS-X16901;WI-13796 BTF4;RAP30;TF2F2;TFIIF ATP-dependent helicase GTF2F2;OTTHUMP00000018348;TFIIF-beta;general transcription factor IIF 30 kDa subunit;general transcription factor IIF subunit 2;transcription initiation factor IIF subunit beta;transcription initiation factor RAP30 protein-coding ENSG00000188342 4653 01804 189969 VALIDATED 1321435 GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008] 5 5 q13.2 70366707 70399253 - 70330951 70363497 - 1580863;6480464;6907045;7246922 21763452 8652557;8194529;9405375;10583946;8946909;1939271;2449431;9512541;9582279;9790902;10214908;11313499;12393749;12646563;19154529;17332483;15790571;15635413;15489334;15220921;14980221;14569024;12477932;12080057;11319235;10866664;10438593;10082552;10066804;9771713;9765201;9651670;9570510;9503025;9334327;9311822;9184228;9130708;9121429;9118947;9063743;9054383;8981949;8934526;8870499;8849451;8692842;8692841;8628270;7664335;7552146;11062469;17207965;11445587;15775968;17438371;17643375;9852112;20398657;22939629;21558443;21821450;12820975;21139048;21157430;21906983;22797925 2966 D6RAW1;D6RGC9;J3KQC7;Q13888;R4GMS9;R4GMV2 ABBA01194832;AC044797;AC142525;AF078847;AK296578;AMYH01015400;BC005345;BG283896;BM083743;BT006773;NM_001515;U21910;U21911;U80017;Z30094 AAA64502;AAA64503;AAC52046;AAD44479;AAH05345;AAI40304;AAI41604;AAP35419;ADQ32613;BAG59198;CAA82910;NP_001506;Q13888 Hs.191356;Hs.607501 5109643;5123710 D5S1609E;D5S1833 BTF2;BTF2P44;MGC102806;T-BTF2P44;TFIIH;p44 BTF2 p44;OTTHUMP00000223559;OTTHUMP00000223561;OTTHUMP00000224504;TFIIH basal transcription factor complex p44 subunit;basic transcription factor 2 44 kDa subunit;general transcription factor IIH polypeptide 2;general transcription factor IIH subunit 2;general transcription factor IIH, polypeptide 2, 44kD subunit APPROVED protein-coding ENSG00000145736 4656 03450 601748 REVIEWED 5489142 GTF2IP3 general transcription factor IIi, pseudogene 3 13 q12.11 19600141 19606766 - 645686 ABBA01068543;ABBA01068544;AL137001;AMYH01004934;NG_023043 1748419 G64225 pseudo 42640 INFERRED 1343970 GTF2IP2 general transcription factor IIi, pseudogene 2 21 q11.2 14815803 14830254 - 338448 ABBA01030840;AL078475;NG_031936 APPROVED pseudo 16082 INFERRED 1317878 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa 11 11 p15.1-p14 18300719 18345153 + 18343816 18388590 + 1580863;6480464;6907045;7246920 22572993 7533895;9118947;8652557;9405375;10583946;8692841;8946909;1939271;2449431;9512541;9582279;9790902;10214908;11313499;12393749;12646563;18692935;18270339;15909982;15625236;15489334;15220921;14702039;14569024;12665589;12477932;12453423;12392551;12379213;11266437;11259578;11239393;11118327;11113176;11071939;10949034;10866664;10777215;10734143;10734072;10490622;10467411;10438593;10428966;10082552;10066804;9837719;9774388;9765293;9765201;9710619;9698541;9651670;9630526;9570510;9334327;9311822;9184228;9130708;9121429;9054383;8934526;8849451;8692842;8628270;8194528;14500720;8162052;7789978;7724549;7935417;1529339;16169070;11062469;17643375;20522537;8152490;8521393;9305922;9852112;20211142;21124955;20974803;20677014;21543505;22939629;14706819;21139048;21157430;21890473;12080057;15282296;8194529;10454562;18160537;18354501;18562274;21988832;22902626;23000965;23180869;21489275 2965 AAB23294;B3KXE0;E9PI26;E9PL58;E9PM51;F5H0Y9;P32780 ABBA01061058;AC084117;AC107948;AI275181;AJ131959;AK027003;AK127204;AK299621;AK299730;AK312974;AMYH01003420;AY163770;BC000365;BC004452;CH471064;CR457368;M95809;NM_001142307;NM_005316 AAA58399;AAB23294;AAH00365;AAH04452;AAN46740;ABM82334;ABM85510;BAB15621;BAG35811;BAG54452;BAG61549;BAG61628;CAC00685;CAG33649;EAW68399;EAW68400;EAW68401;NP_001135779;NP_005307;P32780 Hs.577202 1723887;1772488;1782264;1847398;2149820;2178406;2217396;5092380 G54112;GTF2H1;GTF2H1_3373;RH118763;RH65846;RH79042;SHGC-112034;SHGC-30910 BTF2;P62;TFB1;TFIIH BTF2 p62;OTTHUMP00000236477;OTTHUMP00000236478;OTTHUMP00000236480;TFIIH basal transcription factor complex p62 subunit;basic transcription factor 2 62 kDa subunit;general transcription factor IIH polypeptide 1;general transcription factor IIH subunit 1 protein-coding ENSG00000110768 4655 01807 189972 VALIDATED 6766785 GTF2IRD1P1 GTF2I repeat domain containing 1 pseusogene 1 7 q11.21 66274980 66309813 - 12690205;14702039;9847074 729156 ABBA01048964;AC027644;AK093373;AMYH01017491;CH236961;NR_003934 EAL23732 Hs.709878 1655222;1691272;1790175;1847267;2151574 D7S2368;D7S3254;G29190;RH36373;RH75235 pseudo ENSG00000230583 44136 PROVISIONAL 1313552 GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012] 12 12 q24.31 122684334 122711287 + 124118381 124145334 + 1580863;6480464;6907045 8652557;8194529;9405375;8692841;8628270;7724549;10583946;8946909;1939271;2449431;9512541;9582279;9790902;10214908;11313499;12393749;12646563;18270339;15489334;15220921;14569024;12477932;10866664;10673506;10438593;10082552;10066804;9765201;9651670;9570510;9334327;9311822;9184228;9121429;9118947;9054383;8934526;8849451;8692842;17643375;9852112;22939629;21139048;21157430;21906983;12080057;15790571;1939143;8465201 2967 B4DNZ6;F5GWD3;F5GX35;F5GXG6;F5H3G1;F5H4K7;F5H6X0;H0YFF7;Q13889 ABBA01060395;ABBA01060396;AC117503;AF548661;AK298128;AK313200;AL558542;AL600169;AMYH01004841;BC013216;BC014570;BC031030;BC039726;BC047868;BC065250;BG720598;BM013501;CA306634;CB955773;CH471054;DA953586;DB170244;DB482432;DC319942;HY046873;NM_001271866;NM_001271867;NM_001271868;NM_001516;Z30093 AAH31030;AAH39726;AAH47868;AAH65250;AAN40702;ABZ92424;BAG36016;BAG60408;CAA82909;EAW98426;EAW98427;EAW98428;EAW98429;NP_001258795;NP_001258796;NP_001258797;NP_001507;Q13889 Hs.355348 1687760;1700210;1779822;2121134;2217398;5015404;5016478;5020343;5020740;5020946;5022450;5022578;5024413;5037552 A009S20;D10S275;D12S2135;D1S1423;D8S2279;GDB:434012;GTF2H3_3375;L17705;L17809;L17877;L17971;RH103721;RH80942;SHGC-153794 BTF2;P34;TFB4;TFIIH BTF2 p34;OTTHUMP00000239208;OTTHUMP00000239209;OTTHUMP00000239210;OTTHUMP00000239211;OTTHUMP00000239214;TFIIH basal transcription factor complex p34 subunit;basic transcription factor 2 34 kDa subunit;general transcription factor IIH polypeptide 3;general transcription factor IIH subunit 3 protein-coding ENSG00000111358 4657 07531 601750 REVIEWED 1345691 GTF2IP1 general transcription factor IIi, pseudogene 1 7 7 7 q11.23 94604794 94605174 - 74239053 74291381 - 74601104 74653445 - 15252450;14702039;12477932;9466987 2970 AA576587;AC124781;AC138783;AC211470;AC211486;AK299175;AMYH01017552;BC045632;BQ021719;DQ786291;HY020270;NR_002206 BAG61221 Hs.654705;Hs.743231 1848908;5014501;5015304;5015881;5016250;5023234;5024378;5107707;5115348;5124717;5126803 A002V48;D7S2071E;D7S2123E;G31029;G33157;GDB:335751;GDB:4585221;GDB:4585468;IB291;IB386;RH80654 WBSCR7 pseudo 4660 VALIDATED 1352501 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 6 6 p21.3 30983956 30989859 + 30875977 30881880 + 1331680;1580863;6480464;6907045 9118947 17466626;9405375;10583946;8946909;1939271;2449431;9512541;9582279;9790902;10214908;11313499;12393749;12646563;18676829;18614043;18391197;18354501;17466625;17242193;16874302;16702430;16246722;15601838;15533047;15489334;15220921;14569024;12590132;12477932;11113176;10866664;10677310;10438593;10082552;10066804;9765201;9651670;9570510;9334327;9311822;9184228;9130708;9121429;9054383;8934526;8849451;8692842;8628270;8125298;11062469;9159119;17643375;19681155;19851445;19945377;20522537;9852112;20587610;22939629;22524621;23751493;8612585;22623531;21139048;21906983;12080057;23028341 2968 A2ABL5;B4DTJ5;Q92759 AB032121;AB088103;AB103609;AB202101;ABBA01038067;AK222607;AK298058;AK300239;AK309869;AL662854;AL662870;AL669830;AL773541;AMYH01016207;AY124590;BA000025;BC004935;BC016302;BI460355;BT007321;BX927194;CH471081;CR759747;CR936875;NM_001517;Y07595 AAH04935;AAH16302;AAM64222;AAP35985;ABM84091;ABM87462;BAB63317;BAC54936;BAD96327;BAE78622;BAF31271;BAG60352;BAG62007;CAA68870;EAX03347;NP_001508;Q92759 Hs.485070 1709596;2189457;5491601 MARC_23960-23961:1031924369:1;MARC_6551-6552:992007295:1;SHGC-85159 P52;TFB2;TFIIH BTF2 p52;OTTHUMP00000029049;OTTHUMP00000164874;TFIIH basal transcription factor complex p52 subunit;basic transcription factor 2 52 kDa subunit;general transcription factor IIH polypeptide 4;general transcription factor IIH subunit 4 protein-coding ENSG00000213780 4658 03456 601760 VALIDATED 1602026 GTF2IRD2P1 GTF2I repeat domain containing 2 pseudogene 1 7 7 q11.23 72294838 72323594 - 72656902 72685658 - 15100712 401375 AC006995;AC211485;AMYH01017531;AY312852;NG_033736;NR_002164 Hs.651178 5125948 D7S3266 GTF2IRD2P APPROVED pseudo ENSG00000214544 33127 INFERRED 1342932 GTF3BAP2 general transcription factor IIIB, associated protein 2 9280 11550 1351483 GTF3BAP1 general transcription factor IIIB, associated protein 1 9281 11549 1347967 GTF3BAP3 general transcription factor IIIB, associated protein 3 9279 11552 1345695 GTF2H5 general transcription factor IIH, polypeptide 5 This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009] 6 6 6 q25.3 159237408 159268427 + 158511489 158533375 + 158589379 158620376 + 6480464;6907045;7240710;7246919 22824526 18270339;17350038;16669699;16427011;15489334;15220921;15146197;14702039;14574404;12477932;11062469;20522537;9461396;23000965;21890473;21906983 404672 Q6ZYL4 ABBA01021099;ABBA01021100;AJ634743;AK024874;AK055106;AK129771;AL133347;AL590703;AMYH01016779;BC004568;BC038848;BC056906;BC060317;BQ004444;CH471051;CN403888;CS300615;NG_011758;NM_207118;U92024;U92025 AAH56906;AAH60317;ABZ92133;CAG25512;CAK32279;EAW47663;NP_997001;Q6ZYL4 Hs.356224 1690484;1698784;1729656;1777161;2163836;2164733;5020740;5037552 D6S220;D8S2279;G17032;L17809;RH102955;RH48401;SHGC-67814;WI-11136 C6orf175;TFB5;TFIIH;TGF2H5;TTD;TTD-A;TTDA;bA120J8.2 OTTHUMP00000017501;TFB5 ortholog;TFIIH basal transcription factor complex TTD-A subunit;TFIIH basal transcription factor complex TTDA subunit;general transcription factor IIH subunit 5 APPROVED protein-coding 21157 10581 601675;608780 REVIEWED 733836 GTF2IRD1 GTF2I repeat domain containing 1 The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 7 7 q11.23 73506056 73654853 + 73868120 74016931 + 1580863;6480464 9774679;15231747;17474147;10575229;11438732;19240061;19205026;18326499;17346708;17081983;16494860;16293761;15941713;15527767;15489334;15302935;12865760;12857748;12853948;12477932;12475981;12239342;12193603;10642537;10573005;10198167;19897463;18508765;20007321;16055724;17846119;18029348;19471022;20972266;21693764;21890473;22608712;22198572;23145142;23314748 9569 E9PFE2;H7C4Q8;Q9UHL9 AB209389;ABBA01063886;ABBA01063887;ABBA01063888;ABBA01063889;ABBA01063890;ABBA01063891;ABBA01063892;ABBA01063893;AC004851;AC005015;AC005231;AC211433;AF089107;AF104923;AF118270;AF151354;AF156489;AK308242;AMYH01017551;AMYH01017552;AY648295;BC018136;CH471200;NG_027954;NM_001199207;NM_005685;NM_016328 AAD14687;AAD27668;AAF17358;AAF19786;AAF21796;AAH18136;AAP21877;AAS00361;AAS00362;AAT68469;ABM82097;ABM85280;BAD92626;EAW69599;EAW69600;EAW69601;NP_001186136;NP_005676;NP_057412;Q9UHL9 Hs.647056 1341066;1669866;1701156;1786410;1786426;1790413;1790505;2187697;5015619;5016675;5016781;5020881;5037552;5125970;5127611 D11S3114;D7S2472;D7S3194;D7S3272;D7S3299;D7S3302;D8S2279;L17709;RH104206;RH79740;SHGC-171997;SHGC-172024;SHGC-32736;SHGC-67307;STS-AA019591 BEN;CREAM1;GTF3;MUSTRD1;RBAP2;WBS;WBSCR11;WBSCR12;hMusTRD1alpha1 GTF2I repeat domain-containing 1;GTF2I repeat domain-containing protein 1;OTTHUMP00000160822;OTTHUMP00000213171;OTTHUMP00000213172;OTTHUMP00000213173;USE B1-binding protein;Williams-Beuren syndrome chromosome region 11;binding factor for early enhancer;general transcription factor 3;general transcription factor II-I repeat domain-containing protein 1;general transcription factor III;general transcription factor ii i repeat domain-containing 1;musTRD1/BEN;muscle TFII-I repeat domain-containing protein 1 alpha 1;slow-muscle-fiber enhancer-binding protein;williams-Beuren syndrome chromosomal region 11 protein;williams-Beuren syndrome chromosomal region 12 protein APPROVED protein-coding ENSG00000006704 4661 08379 604318 REVIEWED 1604573 GTF2IRD2 GTF2I repeat domain containing 2 This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 q11.23 73848420 73905777 - 74210484 74267841 - 6480464 15388857;15243160;15100712;14702039;12477932;8125298;17549794;21693764;20473970;16532385;16971481;17823943;22899722;23229069;18508765;22939624;23118870 84163 G8JLD9;Q86WX4 AC004166;AC083884;AC211424;AC211433;AK095257;AK123716;AK124334;AK225845;AK291431;AL833932;AL834153;AMYH01017552;AY260739;AY312853;AY312854;AY336979;AY336980;AY336981;BC038098;BC047706;BC061590;NM_001281447;NM_173537 AAH47706;AAH61590;AAP14955;AAQ19673;AAQ19674;AAR36865;AAR36866;AAR36867;BAF84120;CAD38788;CAD38861;NP_001268376;NP_775808;Q86UP8 Hs.647017;Hs.647039 5020948;5022200;5022578;5022651;5024272;5037552;5125948 D11S2921;D1S1423;D2S1254;D7S3266;D8S2279;G35510;L18426 FLJ21423;FLJ37938;FP630;GTF2IRD2 alpha;GTF2IRD2A;MGC75203 GTF2I repeat domain-containing protein 2, alpha;GTF2I repeat domain-containing protein 2A;GTF2IRD2 alpha;OTTHUMP00000160880;OTTHUMP00000209156;general transcription factor II i repeat domain 2 alpha;general transcription factor II-I repeat domain-containing protein 2A;transcription factor GTF2IRD2;transcription factor GTF2IRD2-alpha APPROVED protein-coding ENSG00000196275 30775 16402 608899 REVIEWED 1604691 GTF2IRD2B GTF2I repeat domain containing 2B This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 q11.23 74146283 74203559 + 74508347 74565623 + 6480464 15388857;15146197;15100712;12477932;21693764;14702039 389524 G8JLD9;G8JLN0;H7BYM4;Q6EKJ0 ABBA01199119;AC124781;AC245150;AK025076;AK095572;AK098269;AMYH01017552;AY312850;AY312851;BC048252;BC067859;BC136849;BX647624;CN286208;NM_001003795 AAH48252;AAH67859;AAI36850;AAR36863;AAR36864;BAB15060;BAC04576;BAG53604;NP_001003795;Q6EKJ0 Hs.647017;Hs.647039 5125948 D7S3266 GTF2I repeat domain-containing protein 2B;GTF2IRD2 beta;OTTHUMP00000209066;OTTHUMP00000209069;general transcription factor 2 I repeat domain-containing 2 beta;general transcription factor II-I repeat domain-containing protein 2B;transcription factor GTF2IRD2-beta APPROVED protein-coding ENSG00000174428 33125 12327 608900 REVIEWED 1347498 GTF2I general transcription factor IIi This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013] 7 7 q11.23 73709966 73812958 + 74072030 74175022 + 1580863;6480464 9334314;9012831;15231747;17353931;19182516;19111598;19097122;18976654;18579769;18445785;17081983;17023658;16964243;16943425;16738337;16314517;16166082;16055724;15941713;15767439;15664986;15635413;15561718;15489334;15302935;14743216;14702039;14623887;14556246;12865760;12853948;12493763;12477932;12393887;12239342;12193603;12082086;11934902;11373296;11313464;11287625;10854432;10648599;10373551;9837922;9671454;9584171;9466987;9384587;8377829;1961251;11278762;22566418;22586326;19897463;21328569;17643375;17970752;19615732;19701889;19880526;21209461;21549311;18029348;19486527;16159877;17803295;21407215;15096481;19242469;21503958;18662664;22863883;22939629;21813151;17314511;15840729;20360068;21139048;21693764;21890473;21906983;22178446;21252943;21653943;22578324;22608712;19471022;21880767;19505873;21145461;21319273;22048961;16712791;19205026;19282872;21282530;21988832;22037610;23000965;19380743;21613400;22505724 2969 C9J6M0;Q499G6;Q75M87;Q86U51 AA641906;ABBA01063881;ABBA01063882;AC004883;AC005231;AC083884;AC211433;AF015553;AF035737;AF038967;AF038968;AF038969;AK057670;AK093663;AK096095;AK292832;AK294935;AK297238;AMYH01017552;BC004472;BC070484;BC099907;BT007450;CB118501;CH471200;DC346283;NG_008179;NM_001163636;NM_001280800;NM_001518;NM_032999;NM_033000;NM_033001;U77948;Y14946 AAB48826;AAB70791;AAC08312;AAC08313;AAC08314;AAC08315;AAH04472;AAH70484;AAH99907;AAL93085;AAP36118;AAS07460;AAS07461;AAS07462;AAS07463;AAS07464;BAF85521;BAG58013;BAG59719;CAA75163;EAW69594;EAW69595;EAW69596;EAW69597;EAW69598;NP_001157108;NP_001267729;NP_001509;NP_127492;NP_127493;NP_127494;P78347 Hs.647041;Hs.654705;Hs.743231 1339289;1647172;1651762;1654391;1722801;1790415;1848908;1854818;2116505;2135812;2139712;2158429;2187703;5014501;5015304;5015881;5016250;5023234;5024378;5037552;5093824;5107707;5115348;5124717;7185244 A002V48;A008P34;A009X21;D7S1870;D7S2071E;D7S2123E;D7S2714;D7S3197;D7S3273;D8S2279;G17118;G31029;G31110;G32945;G33157;G60342;GDB:335751;GDB:4585468;IB291;IB386;RH36307;RH80654;SHGC-2422;STS-R22057 BAP135;BTKAP1;DIWS;FLJ38776;FLJ56355;GTFII-I;IB291;SPIN;TFII-I;WBS;WBSCR6 BTK-associated protein 135;BTK-associated protein, 135kD;Bruton tyrosine kinase-associated protein 135;OTTHUMP00000160876;OTTHUMP00000160877;OTTHUMP00000160878;OTTHUMP00000209509;SRF-Phox1-interacting protein;Williams-Beuren syndrome chromosome region 6;general transcription factor II-I;williams-Beuren syndrome chromosomal region 6 protein APPROVED protein-coding ENSG00000077809 4659 03399 601679 REVIEWED 732489 GTF3A general transcription factor IIIA The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008] 13 13 q12.3-q13.1 26895849 26907958 + 27998681 28009846 + 1580863;6480464;6484113 8063702;17474147;7789179;15342556;12711686;11814676;10756201;9171097;8610146;7622052;2912980;11170396;12775724;20935630;12477932;1589293;16730941;18029348;18573876 2971 B7ZBK4;H7BZ51;H7BZH7;H7C326;Q92664 ABBA01035746;AK057993;AL137059;AMYH01004991;AW627732;BC143711;BP254755;CH471075;D32257;NM_002097;U14134;U20272 AAA21873;AAA75623;BAA06988;EAX08403;EAX08404;EAX08405;NP_002088;Q92664 Hs.445977 1670841;1682485;1725581;2136838;2180034;5014939 G62014;RH1610;RH44696;RH71200;STS-D19678;WI-18818 AP2;TFIIIA OTTHUMP00000200767;OTTHUMP00000200771;general transcription factor iii a;transcription factor IIIA APPROVED protein-coding ENSG00000122034 4662 02916 600860 REVIEWED 1343562 GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa 2 2 p23.3 27402225 27433372 - 27548721 27579868 - 1580863;6480464 17409385;7729686;17081983;16964243;16822860;15489334;15342556;12477932;10523658;10373544;9660958;9171097;9169441;9110174;8619474;7584028;7584026;1403646;18644873;16344560;22939629;17314511;22379092;20360068;21139048;21549307;21693764;19471022 2976 C9JNH7;C9JQ12;H0Y4Q6;H7C1A9;H7C318;H7C3X9;Q8WUA4 ABBA01045202;AC013413;AC074117;AC109828;AF054988;AK307656;AMYH01010195;BC000212;BC020981;BP249089;BP278201;BT009799;BU632224;BX647092;CH471053;D13636;DA399212;DB286393;NM_001035521;NM_001521 AAC09349;AAH00212;AAH20981;AAP88801;AAY24049;AAY24299;BAA02800;EAX00594;EAX00595;EAX00596;NP_001030598;NP_001512;Q8WUA4 Hs.75782 1644060;1751119;2146397;2155981;2173069;2217402 D2S2572;D2S2840;G06474;GTF3C2_3379;RH16563;SHGC-105015 KIAA0011;TFIIIC-BETA;TFIIIC110 OTTHUMP00000123422;TF3C-beta;TFIIIC 110 kDa subunit;general transcription factor 3C polypeptide 2;transcription factor IIIC 110 kDa subunit;transcription factor IIIC subunit beta protein-coding ENSG00000115207 4665 05347 604883 VALIDATED 736274 GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa 16 16 p12 27379436 27468752 - 27471934 27561251 - 632988;1580863;6480464 8164661 17081983;16964243;15489334;15342556;15302935;14702039;12711686;12477932;11741993;10493829;9660958;8127861;1447193;1403646;16169070;10523658;10373544;11965497;17409385;18644873;20543138;20562859;19299493;23383273;17846119;21252943;22939629;22990118;17314511;19322201;21628590;21653943;22586326;19596686;20360068;21139048;21549307;21693764;21890473;21900206;21906983;21987572;19471022;18029348;9169441;7729686 2975 H3BRD0;H3BU37;H3BU55;I3L1Z3;Q12789 ABBA01017157;ABBA01017158;AC002303;AC002551;AC025275;AK091032;AK123999;AK131479;AMYH01007404;BC044857;BC052642;BC137229;BC151847;BP283960;BX648143;CA414192;CH471145;CR627430;NM_001520;U02619;U06485 AAA17985;AAA85638;AAB67637;AAC05811;AAH44857;AAH52642;AAI37230;CAH10517;CAH10771;EAW55744;EAW55745;NP_001511;Q12789 Hs.371718 1738495;1739429;1793028;2116225;2127251;2217400 D16S2689;D16S2932E;GTF3C1_3378;PMC18813P1;SHGC-60502;STS-U02619 DKFZp686A111;TFIIIC;TFIIIC220;TFIIICalpha TF3C-alpha;TFIIIC 220 kDa subunit;TFIIIC box B-binding subunit;general transcription factor 3C polypeptide 1;general transcription factor IIIC, polypeptide 1 (alpha subunit);general transcription factor iii c 1;transcription factor IIIC 220 kDa subunit;transcription factor IIIC subunit alpha protein-coding ENSG00000077235 4664 07540 603246 VALIDATED 1319385 GTF3C3 general transcription factor IIIC, polypeptide 3, 102kDa The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 2 2 2 q33.1 191384968 191420293 - 197337345 197372670 - 197627756 197664492 - 1580863;6480464 17409385;15489334;14702039;12477932;11965497;10373544;8573604;1403646;10523658;17353931;21252943;19521658;16344560;20562859;17643375;19596235;18644873;20211142;22939629;17314511;22318606;22586326;20360068;19471022;21139048;21549307;21906983;23275444;23383273;22505724;7729686 9330 F8WC64;H0YFI7;H7BZV8;H7C0C0;H7C143;Q9Y5Q9 ABBA01062461;AC012486;AF085850;AF133123;AF465407;AK025560;AK027050;AK314718;AL137453;AMYH01011384;AMYH01011385;BC015995;BC026889;BC036952;BC043347;BF594763;BQ024746;BU622956;CH471063;DB078021;NG_030373;NM_001206774;NM_012086;S81493 AAD41475;AAH15995;AAH43347;AAL73493;AAX88853;BAB15638;BAG37262;CAB70745;EAW70132;EAW70133;EAW70134;NP_001193703;NP_036218;Q9Y5Q9 Hs.470996;Hs.737375 1698500;2108125;2118580;2127334;2154460;2183156;5093284 A009K42;G32628;GTF3C3_7941;RH102800;RH12123;RH70336;SHGC-33860 TFIIIC102;TFIIICgamma;TFiiiC2-102 OTTHUMP00000163622;OTTHUMP00000205595;TF3C-gamma;TFIIIC 102 kDa subunit;general transcription factor 3C polypeptide 3;transcription factor IIIC 102 kDa subunit;transcription factor IIIC subunit gamma;transcription factor IIIC, 102 kD APPROVED protein-coding ENSG00000119041 4666 11997 604888 REVIEWED 1316627 GTF3C6 general transcription factor IIIC, polypeptide 6, alpha 35kDa RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008] 6 6 6 q21 112026336 112035665 + 111386456 111395775 + 111279763 111289091 + 6480464 17409385;15489334;14702039;12477932;21832049;22939629;16159877 112495 Q3SWV5;Q969F1 ABBA01026100;AF361492;AF361496;AK057977;AL357515;AMYH01016591;BC011593;BC104655;BQ269752;CH471051;EF137904;NM_138408 AAH11593;AAI04656;AAL57217;AAL57221;ABO33431;BAB71624;EAW48305;NP_612417;Q969F1 Hs.418520 2160960;5124693 DXS6972E;RH69406 C6orf51;TFIIIC35;bA397G5.3 OTTHUMP00000017016;TFIIIC 35 kDa subunit;general transcription factor 3C polypeptide 6;transcription factor IIIC 35 kDa subunit;transcription factor IIIC 35kDa;transcription factor IIIC subunit 6 APPROVED protein-coding ENSG00000155115 20872 12886 611784 VALIDATED 1349733 GTF3C4 general transcription factor IIIC, polypeptide 4, 90kDa 9 9 9 q34.13 106087467 106107210 + 134535549 134555292 + 135545728 135565471 + 1580863;6480464 17409385;10523658;17081983;15489334;15302935;14702039;12477932;10373544;1403646;20487506;19454010;22863883;22939629;22990118;17314511;19471022;21139048;21549307;21890473;21906983;20360068;21987572;21252943;22318606;22053931;22505724;7729686 9329 B3KNH2;F2Z356;Q9UKN8 ABBA01032483;AF142328;AK024655;AK027509;AL160165;AMYH01021792;BC011619;BC022787;BC060821;BC094774;BC104755;BC112245;CH471090;CX755755;NM_012204 AAF05087;AAH11619;AAH22787;AAH94774;AAI04756;AAI12246;BAG51334;EAW88010;EAW88011;NP_036336;Q9UKN8 Hs.656646 1773221;1793030;2175044;5015881;5020885 A006V03;GDB:335751;L17791;PMC18813P2;SHGC-58020 FLJ21002;KAT12;MGC138450;TFIII90;TFIIIC290;TFIIIC90;TFIIICDELTA OTTHUMP00000022434;TF3C-delta;TFIIIC 90 kDa subunit;general transcription factor 3C 4;general transcription factor 3C polypeptide 4;transcription factor IIIC 90 kDa subunit;transcription factor IIIC subunit delta protein-coding 4667 11998 604892 VALIDATED 1315559 GTPBP1 GTP binding protein 1 This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 22908486 22936274 + 37431753 37459538 + 39101807 39129592 + 1580863;6480464 15489334;9070279;17081983;21145461;15461802;14702039;12477932;11042152;10938096;10833435;10591208;9820815;21832049;21903422;21139048;21907836;22145905 9567 B0QY59;F5H257;F5H716;F5H7C0;F8WAZ4;H0YF75;H0YGA8;H0YH10;O00178 ABBA01055533;AF077204;AF370385;AI570660;AK095950;AK096647;AK315704;AL021707;AMYH01012765;BC001701;BC014075;BC016030;BC046350;BF001482;CH471095;CR456501;NM_004286;U87964 AAB51273;AAD26999;AAH14075;AAQ15221;ACE86490;ACE87171;BAG38066;CAG30387;CAK54529;CAK54828;EAW60261;EAW60262;EAW60263;EAW60264;NP_004277;O00178 Hs.276925 1705372;1739669;1748391;1797672;2111109;2150162;2191297;5022588;5022651;5023733 AU048745;D11S2921;D22S1123E;D22S412E;D5S1597E;G65738;GTPBP1_1885;MARC_17175-17176:1021303484:1;RH77968;SHGC-83543 GP-1;GP1;HSPC018;MGC20069 G-protein 1;GTP-binding protein 1;OTTHUMP00000028811 APPROVED protein-coding ENSG00000100226 4669 03765 602245 REVIEWED 1313045 GTF3C5 general transcription factor IIIC, polypeptide 5, 63kDa 9 9 9 q34 106447792 106475620 + 134895934 134923708 + 135906062 135933890 + 6480464 14702039;17409385;16344560;15489334;12477932;10523658;10373544;9110174;8619474;8125298;1403646;21145461;19913121;20628086;18644873;19454010;20211142;17643375;20398657;22939629;22990118;20360068;21987572;21139048;21549307;21890473;21906983;7729686;23383273 9328 H0Y5D2;H7BY84;H9KV68;Q5T7U0;Q5T7U1;Q5T7U4;Q9H4P2 ABBA01032474;AF133124;AJ420443;AK000194;AK024510;AK055092;AK097295;AK225761;AK293980;AK311481;AL162417;AMYH01021794;AY007123;BC006409;BC009741;BC011355;BC017337;BC030157;CH471090;DB194811;NM_001122823;NM_012087 AAD41476;AAG01991;AAH09741;AAH11355;AAH17337;AAH30157;ABM82997;ABM86191;BAA91001;BAC04993;BAG51466;BAH11639;EAW88026;EAW88027;EAW88028;EAW88029;NP_001116295;NP_036219;Q9Y5Q8 Hs.495417 1735848;1858210;2119010;5096414 D9S982E;G11785;RH16015;RH65689 FLJ20857;TFIIIC63;TFIIICepsilon;TFiiiC2-63 OTTHUMP00000022452;OTTHUMP00000022453;OTTHUMP00000022454;TF3C-epsilon;TFIIIC 63 kDa subunit;general transcription factor 3C polypeptide 5;transcription factor IIIC 63 kDa subunit;transcription factor IIIC subunit epsilon;transcription factor IIIC, 63 kD protein-coding ENSG00000148308 4668 16077 604890 VALIDATED 1353569 GTPBP6 GTP binding protein 6 (putative) This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011] X X;Y X;Y p22.33; Yp11.32 794391 820893 + 161426 170887 - 171426 180887 - 737633;1580863;6480464 12477932 8125298;9466997;21890473 8225 H0Y2S1;H7BYW4;O43824 ABBA01001660;ABBA01005330;ABBA01005331;ABBA01005332;AK024630;AK026462;AK074528;AK223412;AK296003;AK298260;AMYH01021951;BC014636;BG437484;BT007360;BX000483;CH471225;DN997384;NM_012227;Y14391 AAH14636;AAP36024;BAC11041;BAD97132;BAG58777;BAG60524;CAA74749;EAW66820;NP_036359;O43824 Hs.437145 1702798;1760505;1770826 DXYS142;SHGC-143507;UniSTS:99581 FLJ20977;FLJ22809;FLJ56662;FLJ56805;FLJ90047;PGPL OTTHUMP00000024276;pseudoautosomal GTP-binding protein-like;putative GTP-binding protein 6;putative GTP-binding protein 6-like APPROVED protein-coding ENSG00000178605 30189 02128 300124 VALIDATED 1349539 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 18 18 q22.2 66448776 66477444 - 66448776 66477444 - 12682296 220158 Q86UQ5 AC091646;AW082319;AY262164;NM_001278515;XM_496277 AAP13553;NP_001265444;Q86UQ5;XP_496277 gilles de la Tourette syndrome chromosomal region candidate gene 1 protein protein-coding 18406 VALIDATED 1348058 GTS Gilles de la Tourette syndrome 7240710 2973 1335082;1342097;7185012 D11S907;D11S912;D11S933 4671 137580 1606015 GTPBP8 GTP-binding protein 8 (putative) 3 3 3 q13.2 111118142 111128559 + 114192490 114202911 + 112709800 112720221 + 6480464 14702039;12477932;11042152;20877624;20379614;21832049 29083 C9J0K3;C9J8V5;F8WBY6;Q8N3Z3;Q9P025 ABBA01061657;AC074044;AF161484;AI367201;AK093419;AK289611;AK292651;AMYH01013392;BC000003;BC010137;BC037163;BG655089;BI830308;BX354218;CA429378;CH471052;CK818022;NM_014170;NM_138485 AAF29099;AAH37163;ABM83233;ABM86432;BAF82300;BAF85340;EAW79652;EAW79653;EAW79654;EAW79655;EAW79656;NP_054889;NP_612494;Q8N3Z3 Hs.127496 5014051;5015619;5037552 D11S3114;D8S2278;D8S2279 HSPC135 GTP-binding protein 8;OTTHUMP00000214617;OTTHUMP00000214618;OTTHUMP00000214632;OTTHUMP00000214633;OTTHUMP00000214634 protein-coding ENSG00000163607 25007 13700 VALIDATED 1314943 GTPBP2 GTP binding protein 2 GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003] 6 6 6 p21 45139839 45148557 - 43696196 43704914 - 43588218 43596936 - 1580863;6480464 15489334;14702039;14574404;12477932;11054535;10833435;8889548;21903422 54676 H0Y4M5;H0Y5J1;H0Y7A5;H0YF05;Q9BX10 AB024574;ABBA01050671;AF168990;AJ420518;AK000430;AK290267;AL353602;AL834331;AMYH01016316;BC020980;BC028347;BC032315;BC064968;BU736981;CH471081;NM_019096 AAF78884;AAH20980;AAH28347;AAH64968;BAA91160;BAB12431;BAF82956;CAD38999;EAX04213;EAX04214;EAX04215;EAX04216;EAX04217;EAX04218;NP_061969;Q9BX10 Hs.485449 1654944;1654946;1850026;1850028;2142613 A006I45;D6S2189;G20859;RH46731;WI-20627 MGC74725 GTP-binding protein 2;OTTHUMP00000016486 APPROVED protein-coding ENSG00000172432 4670 08465 607434 VALIDATED 1606997 GTPBP10 GTP-binding protein 10 (putative) Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] 7 7 7 q21.13 84680065 84720716 + 89813926 89854586 + 89975979 90020769 + 6480464 17054726;16189514;14702039;12477932;21145461;17567994;20186120;21906983 85865 C9J8R7;C9JEQ8;C9JNI1;F8WBB5;F8WBY0;F8WCN4;Q9Y6T6 AACC02000015;ABBA01045838;AC002064;AC006153;AF351613;AK093649;AK095561;AK125553;AK294325;AL525056;AMYH01017681;BC004923;BC021573;BC107714;BC144162;CH236949;CH471091;CR933597;NM_001042717;NM_033107;T65158 A4D1E9;AAD15550;AAH04923;AAH21573;AAI07715;AAN76513;BAC04573;BAG57597;CAI45922;EAL24164;EAW76878;EAW76879;EAW76880;EAW76881;EAW76882;NP_001036182;NP_149098 Hs.593547;Hs.709271 1686973;1799318;1803838;1806538;1806540;1807370;1807456;1814486;1815002;1815546;1816134;1816920;1820548;1820668;1824650;1826174;1829466;1829700;1832126;1833072;1833132;1835108;1836146;1840012;1843218;1845208;1845960;1849292;1850023;1858600;2071306;2071308;2071310;2071312;2071314;2071316;2071318;2071320;2071322;2071324;2071326;2071328;2071330;2071332;2071334;2071336;2071338;2071340;2071342;2071344;2071346;2071348;2071350;2071352;2071354;2071356;2071358;2071360;2071362;2071364;2071366;2071368;2071370;2071372;2071374;2071376;2071378;2071380;2071382;2071384;2071386;2071388;2071390;2071392;2071394;2071396;2071398;2071400;2071402;2071404;2071406;2071408;2071410;2071412;2071414;2071416;2071418;2071420;2071422;2071424;2071426;2071428;2071430;2071432;2071434;2071436;2071438;2071440;2071442;2071444;2071446;2071448;2071450;2071452;2071454;2071456;2071458;2071460;2071462;2071464;2071466;2071468;2071470;2071472;2071474;2071476;2071478;2071480;2071482;2071484;2071486;2071488;2071490;2071492;2071494;2071496;2071498;2071500;2071502;2071504;2071506;2071508;2071510;2071512;2071514;2071516;2071518;2071520;2071522;2071524;2071526;2071528;2071530;2071532;2071534;2071536;2071538;2071540;2071542;2071544;2071546;2071548;2071550;2071552;2071554;2071556;2071558;2071560;2071562;2071564;2071566;2071568;2071570;2071572;2071574;2071576;2071578;2071580;2071582;2071584;2071586;2071588;2071590;2071592;2071594;2071596;2071598;2071600;2071602;2071604;2071606;2071608;2071610;2071612;2071614;2071616;2071618;2071620;2071622;2071624;2071626;2071628;2071630;2071632;2071634;2071636;2071638;2071640;2071642;2071644;2071646;2071648;2071650;2071652;2071654;2071656;2071658;2071660;2071662;2071664;2071666;2071668;2071670;2125512;2194202;2194204;2194206;2194208;2194210;2194212;2194214;2194216;2194218;2194220;2194222;2194224;2194226;2194228;2194230;2194232;2194234;2194236;2194238;2194240;2194242;5015861;5016478;5022578;5037552;7185938 D10S16;D1S1423;D8S2279;ECD00508;ECD02830;ECD04226;ECD04227;ECD04656;ECD04700;ECD08273;ECD08532;ECD08809;ECD09107;ECD09509;ECD11349;ECD11409;ECD13423;ECD14197;ECD15864;ECD15982;ECD17201;ECD17678;ECD17708;ECD18708;ECD19234;ECD21190;ECD22817;ECD23821;ECD24200;ECD24501;GDB:1318268;GDB:434012;REN106845;REN106846;REN106847;REN106848;REN106849;REN106850;REN106851;REN106852;REN106853;REN106854;REN106855;REN106856;REN106857;REN106858;REN106859;REN106860;REN106861;REN106862;REN106863;REN106864;REN106865;REN106866;REN106867;REN106868;REN106869;REN106870;REN106871;REN106872;REN106873;REN106874;REN106875;REN106876;REN106877;REN106878;REN106879;REN106880;REN106881;REN106882;REN106883;REN106884;REN106885;REN106886;REN106887;REN106888;REN106889;REN106890;REN106891;REN106892;REN106893;REN106894;REN106895;REN106896;REN106897;REN106898;REN106899;REN106900;REN106901;REN106902;REN106903;REN106904;REN106905;REN106906;REN106907;REN106908;REN106909;REN106910;REN106911;REN106912;REN106913;REN106914;REN106915;REN106916;REN106917;REN106918;REN106919;REN106920;REN106921;REN106922;REN106924;REN106925;REN106926;REN106927;REN106928;REN106929;REN106930;REN106931;REN106932;REN106933;REN106934;REN106935;REN106936;REN106937;REN106938;REN106939;REN106940;REN106941;REN106942;REN106943;REN106944;REN106945;REN106946;REN106947;REN106948;REN106949;REN106950;REN106951;REN106952;REN106953;REN106954;REN106955;REN106956;REN106957;REN106958;REN106959;REN106960;REN106961;REN106962;REN106963;REN106964;REN106965;REN106966;REN106967;REN106968;REN106969;REN106970;REN106971;REN106972;REN106973;REN106974;REN106975;REN106976;REN106977;REN106978;REN106979;REN106980;REN106981;REN106982;REN106983;REN106984;REN106985;REN106986;REN106987;REN106988;REN106989;REN106990;REN106991;REN106992;REN106993;REN106994;REN106995;REN106996;REN106997;REN106998;REN106999;REN107000;REN107001;REN107002;REN107003;REN107004;REN107005;REN107006;REN107007;REN107008;REN107009;REN107010;REN107011;REN107012;REN107013;REN107014;REN107015;REN107016;REN107017;REN107018;REN107019;REN107020;REN107021;REN107022;REN107023;REN107024;REN107025;REN107026;REN107027;REN107028;RH15866;RH67961;RH92338;stSG614567;stSG614568;stSG614569;stSG614570;stSG614571;stSG614572;stSG614573;stSG614574;stSG614575;stSG614576;stSG614577;stSG614578;stSG614579;stSG614580;stSG614581;stSG614582;stSG614583;stSG614584;stSG614585;stSG614586;stSG614587 DKFZp686A10121;FLJ38242;MGC104191;ObgH2;UG0751c10 GTP-binding protein 10;OTTHUMP00000025273;OTTHUMP00000067803;OTTHUMP00000206403;protein obg homolog 2 APPROVED protein-coding ENSG00000105793 25106 14262 610920 VALIDATED 1314719 GTSF1L gametocyte specific factor 1-like 20 20 20 q13.12 39062229 39063070 - 41788215 41789056 - 42354801 42355642 - 6480464 12477932 149699 Q9H1H1 AA723626;AA813527;ABBA01052628;AK058060;AL121886;AMYH01011927;BC040049;BQ428678;BX355734;CH471077;HC006828;NM_001008901;NM_176791 AAH40049;CBH19220;EAW75949;EAW75950;NP_001008901;NP_789761;Q9H1H1 Hs.447626;Hs.710523 1676830 RH99302 C20orf65;FAM112A;MGC50820;dJ1028D15.4 OTTHUMP00000031030;OTTHUMP00000031031;chromosome 20 open reading frame 65;family with sequence similarity 112, member A;gametocyte-specific factor 1-like protein-coding ENSG00000124196 16198 12778 VALIDATED 1313350 GTPBP3 GTP binding protein 3 (mitochondrial) This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010] 19 19 19 p13.11 17350088 17355271 + 17309364 17314530 + 17445791 17453540 + 6480464 11256614;18852288;16713569;16344560;16341674;16189514;15542390;15489334;14702039;14680828;12477932;12370316;1290633;19209188;20877624;18029348;21906983;22505724 84705 B7Z563;M0QXA1;M0QYW1;M0R0S9;M0R161;M0R1X0;Q969G4 ABBA01051192;AC010463;AF360742;AF360743;AF360744;AF361481;AK027606;AK091035;AK291929;AK297953;AK298485;AK310794;AK311442;AMYH01009571;AY078987;AY078988;BC008924;BC017207;BC019261;BI856784;BM789389;CH471106;DA044241;DA490131;DA666199;DC339966;NG_027824;NM_001128855;NM_001195422;NM_032620;NM_133644 AAH08924;AAH17207;AAH19261;AAK37568;AAK39555;AAK39556;AAK39557;AAL85492;AAL85493;ABM83143;ABM86339;BAB55228;BAF84618;BAH12694;BAH12799;EAW84597;EAW84598;EAW84599;NP_001122327;NP_001182351;NP_116009;NP_598399;Q969Y2 Hs.334885 1674141;1856679;5015861;5020948;5021228;5022651;7185938 D10S16;D11S2921;G35510;GDB:312794;SHGC-32200;SHGC-33572 FLJ14700;FLJ17836;GTPBG3;MSS1;MTGP1;THDF1 GTP-binding protein 3;mitochondrial GTP binding protein;mitochondrial GTP-binding protein 1;tRNA modification GTPase GTPBP3, mitochondrial APPROVED protein-coding ENSG00000130299 14880 12255 608536 REVIEWED 1605883 GTSF1 gametocyte specific factor 1 12 12 12 q13.13 54501575 54519224 - 53136011 53151328 - 54849736 54867386 - 6480464 15489334;14702039;12477932 121355 G3V1V4;Q8WW33 ABBA01008373;ABBA01008374;AC079313;AK057504;AK098819;AMYH01004488;BC021179;BC105587;BE503352;CH471054;NM_144594 AAH21179;AAI05588;BAC05423;BAG51922;EAW96783;EAW96784;EAW96785;NP_653195;Q8WW33 Hs.524476 1672787;1746499;1746507 G64350;G64404;RH45428 FAM112B;FLJ32942 OTTHUMP00000242264;OTTHUMP00000242265;OTTHUMP00000242266;family with sequence similarity 112, member B;gametocyte-specific factor 1 protein-coding ENSG00000170627 26565 08150 VALIDATED 735414 GUCA2A guanylate cyclase activator 2A (guanylin) 1 1 p35-p34 42400949 42402982 - 42628362 42630395 - 1580863;6480464 1327879;8095028;7947768;15901896;15780094;14988827;12707255;12463760;12163390;11889121;10601865;9272623;7892222;7601480;7566098;1409606;19742348;20213926 2980 Q02747 ABBA01023139;AC114492;AMYH01000548;CH471059;M95174;M97496;NM_033553;T28160;X74322 AAA35915;AAA58625;AAI40429;AAI56567;CAC22258;EAX07168;NP_291031;Q02747 Hs.778 2156824;2184776 RH69208;SHGC-12776 GCAP-I;GUANYLIN;GUCA2;STARA GCAP-I;OTTHUMP00000007926;guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable);guanylate cyclase-activating protein 1;guanylate cyclase-activating protein I;guanylin protein-coding ENSG00000197273 4682 00767 139392 VALIDATED 732875 GTPBP4 GTP binding protein 4 GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008] 10 10 10 p15-p14 984242 1013986 + 1024349 1053708 + 1034349 1063708 + 632611;1580863;6480464;6907045 11316846 15489334;21145461;17210637;17353931;17081983;14702039;12477932;12429849;8125298;20308539;22586326;15324660;16385451;19454010;21182205;18029348;19596686;21903422;21987572;22178446;19471022;21139048;21693764;21890473;21906983;21628590;21252943;22505724;22797925 23560 B4DY13;B7Z7A3;D2CFK9;Q5T3R7;Q9BZE4 ABBA01035260;ABBA01035261;ABBA01035262;AC022536;AF065393;AF120334;AF325353;AI740474;AK001548;AK001552;AK097093;AK222861;AK295231;AK301721;AK302219;AL359878;AMYH01001976;BC008683;BC021243;BC033784;BC038975;CH471072;DQ496111;NM_012341 AAC24364;AAD09830;AAH33784;AAH38975;AAK13444;ABF55254;BAA91752;BAD96581;BAG50937;BAG58224;BAG63575;BAH13539;EAW86526;EAW86527;EAW86528;NP_036473;Q9BZE4 Hs.215766 1677794;2131804;2131806;2164453 RH46996;RH76535;SHGC-64089;STS-H94877 CRFG;FLJ10686;FLJ10690;FLJ39774;NGB;NOG1 GTP-binding protein NGB;OTTHUMP00000018953;chronic renal failure gene protein;nucleolar GTP-binding protein 1 APPROVED protein-coding ENSG00000107937 21535 09976 REVIEWED 1317826 GUCA1B guanylate cyclase activator 1B (retina) The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009] 6 6 p21.1 42259000 42270672 - 42151022 42162694 - 1580863;6480464;6893539;6907045;7240710;7204681 22074925;20668007 1409606;1327879;15901556;15505030;15452722;14574404;12477932;12107411;10507726;9931003;9698373;9119368;9114059;21405999;20301590 2979 Q7Z3V9;Q9UMX6 ABBA01050733;ABBA01050734;AF173227;AL096814;AMYH01016302;BQ636025;BX537393;CH471081;NG_016216;NM_002098 AAD47279;AAI66640;CAD97635;EAX04085;NP_002089;Q9UMX6 Hs.446529 1337118;1658287;1858412;5015619;5021872;5022651;5037552;7187622 D11S2921;D11S3114;D6S400;D8S2279;RH78652;SHGC-36091;sY3084 DKFZp686E1183;GCAP2;GUCA2;RP48 GCAP 2;OTTHUMP00000016398;guanylate cyclase-activating protein, photoreceptor 2;guanylyl cyclase-activating protein 2 APPROVED protein-coding 4679 03783 602275;613827 REVIEWED 1350559 GUCA1C guanylate cyclase activator 1C 3 3 3 q13.1 107024381 107070447 - 110109340 110155310 - 108626642 108672677 - 1580863;6480464;6907045 10037746;16626734;12477932;11860507;21697133 9626 C9J7M7;C9JNI2;O95843 AB593147;ABBA01061698;ABBA01061699;AC016948;AC080135;AF110001;AF110002;AF110003;AMYH01013382;AV732101;BC103993;BC103994;C20850;CH471052;NM_005459 AAD19943;AAD19944;AAD19945;AAI03994;AAI03995;ACE87770;ACT64433;BAJ84081;EAW79715;EAW79716;NP_005450;O95843 Hs.233363 1714085;2107197 GUCA1C__7556;RH119648 GCAP3;MGC120158;MGC120159 GCAP 3;OTTHUMP00000214337;OTTHUMP00000214338;OTTHUMP00000214339;guanylyl cyclase-activating protein 3 protein-coding ENSG00000138472 4680 05499 605128 VALIDATED 732506 GUCY1B2 guanylate cyclase 1, soluble, beta 2 (pseudogene) 13 13 13 q14.3 32617656 32689305 - 50466770 50538143 - 51568647 51640293 - 1580863;1300048;6480464 18565106;10777682;10717006;10677588;10449911;9889008;1980215;20451256 2974 O75343 ABBA01051042;ABBA01051043;AF038499;AF218383;AI247180;AK296746;AL137881;AL160157;AMYH01005115;CH471075;NR_003923 AAD09440;AAF66105;BAG59330;EAX08865 Hs.411573 1654715;1779444;1782858;2108127 GUCY1B2_8389;SHGC-144502;SHGC-153425;WI-11681 GC-SB2 APPROVED pseudo ENSG00000123201 4686 07542 603695 VALIDATED 1350308 GTSE1 G-2 and S-phase expressed 1 The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008] 22 22 22 q13.2-q13.3 30600021 30634091 + 45071476 45108260 + 46692638 46726707 + 1580863;6480464;6907045 10974554;16964243;16344560;15998911;15790807;15489334;15461802;15302935;15146197;14707141;14702039;12750368;12477932;10984615;10591208;8889548;8125298;19913121;20628086;20577264;19615732;20018861;20800603;22990118;21139048;21693764;21890473;19531213;22292647;23236459 51512 Q9Y557 ABBA01010445;AF223408;AK025563;AK222806;AK303087;AK315550;AL031588;AL031844;AMYH01012858;AY927425;AY927426;AY927427;BC006325;BC069212;BC075828;BE390871;BG718574;BG770679;BQ049956;BU621031;BX329502;CA419902;CF145254;CH471138;CN333997;CT841519;CX866545;CX871575;DA697736;DB091686;DB152041;NM_016426;Z93024 AAF31459;AAH06325;AAH75828;ABM83697;ABM87019;BAD96526;BAG37928;BAG64198;CAJ86449;CAK54530;CAK54829;EAW73418;EAW73419;EAW73420;EAW73421;NP_057510;Q9NYZ3 Hs.386189;Hs.439524 1686198;1687626;1699512;2109371 GTSE1_9728;RH103350;RH93290;RH93827 B99 G2 and S phase-expressed protein 1;OTTHUMP00000197503;protein B99 homolog APPROVED protein-coding ENSG00000075218 13698 09593 607477 REVIEWED 1318644 GUCA1A guanylate cyclase activator 1A (retina) This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. [provided by RefSeq, Feb 2009] 6 6 p21.1 42231152 42255772 + 42123144 42147794 + 1599353;1580863;6480464;6893539;6907045;7240710;7204681 9425234;22074925;20668007 7983048;18541533;16344560;15953638;15790869;15735604;15505030;15504042;15489334;14574404;12732716;12477932;12445466;12390029;11484154;11146732;11108966;9702199;9651312;9119368;19459154;9931003;20801516;20238026;21928830 2978 A6PVH5;P43080 ABBA01050734;AK125780;AK313865;AL096814;AMYH01016302;BC031663;CH471081;DB049592;L36859;L36861;NG_009938;NM_000409 AAA60541;AAA60542;AAH31663;ABM82228;ABM85413;BAG36593;BAG54246;EAX04084;NP_000400;P43080 Hs.92858 1657700;2109373;2128773;2138145 GUCA1A_8390;RH47569;RH67862;WI-9373 C6orf131;COD3;CORD14;GCAP;GCAP1;GUCA;GUCA1;dJ139D8.6 GCAP 1;OTTHUMP00000016397;OTTHUMP00000196466;OTTHUMP00000196468;cone dystrophy 3;guanylate cyclase-activating protein, photoreceptor 1;guanylin 1, retina;guanylyl cyclase-activating protein 1 APPROVED protein-coding ENSG00000048545 4678 02648 600364;602093 REVIEWED 1353154 GUCD1 guanylyl cyclase domain containing 1 22 22 22 q11.2 8736128 8750998 - 23266406 23281275 - 24936406 24951275 - 737633;6480464 12477932 15489334;14702039;21832049;17207965;21139048;19322201 83606 B5MCF3;B5MCL7;E7EX77;E9PGZ7;Q96NT3 AB049215;ABBA01055140;ABBA01055141;AK024723;AK025242;AK054681;AK098754;AK294972;AK296893;AMYH01012666;AP000356;BC002924;BC004144;BC015685;BC041568;BC053529;BC070109;BG773056;CH471095;NM_031444 AAH02924;AAH53529;AAH70109;ADQ31918;BAB68411;BAB70791;BAG58044;BAG59452;EAW59665;EAW59666;EAW59667;EAW59668;EAW59669;NP_113632;Q96NT3 Hs.9850 1647468;1724669;2135280;2174361;2180133 A006M41;D22S1247;RH121336;RH48891;WI-20262 C22orf13;LLN4;MGC1842 CG13760 gene product [Drosophila melanogaster] homolog;OTTHUMP00000198384;OTTHUMP00000198385;OTTHUMP00000198386;OTTHUMP00000198387;OTTHUMP00000198388;OTTHUMP00000198389;OTTHUMP00000198390;chromosome 22 open reading frame 13;guanylyl cyclase domain-containing protein 1;protein GUCD1;uncharacterized protein C22orf13 APPROVED protein-coding ENSG00000138867 14237 12796 VALIDATED 1606377 GUCY2EP guanylate cyclase 2E, pseudogene This olfactory specific guanylyl cyclase is part of the mammalian olfactory system and and encodes a protein involved in chemosensation in rodents. The gene has become inactivated to become a pseudogene is humans and most primates. [provided by RefSeq, Oct 2008] 11 11 11 q13.5 73699002 73740493 - 76068858 76110481 - 76391210 76432833 - 6480464 18085818;17849013;8838319;9153227;20012162 390226 Q3C1W8 AB231718;ABBA01017449;AMYH01003821;AP001189;NR_024042 BAE46879 Hs.440026 1335815;1684483;1704404;1762269;1762271;1779222;2121382;2153251;7186274 D11S2011;D11S356;D11S4179;D11S4396;D11S527;SHGC-146126;SHGC-146127;SHGC-152858;SHGC-79725 GC-E;GCD;GUCY2E APPROVED pseudo 4690 601138 VALIDATED 732908 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 11 11 q21-q22 106063120 106394381 - 106544738 106889171 - 1580863;1300048;6480464;6907045 1683630;19240061;15094474;12477932;11752394;11572861;11158065;10512742;8660992;7673142;19948239;20978832;17873020;20379614;14702039;22589738;22426988;15123239;23251661 2977 B7ZLT5;P33402 ABBA01039889;ABBA01039890;ABBA01039891;ABBA01039892;ABBA01039893;ABBA01039894;AK001875;AK022090;AK025115;AK098142;AMYH01004010;AP001282;AP001881;AP003078;AP005014;BC036599;BC047463;BC130484;BC130488;BC144033;CA774108;CH471065;NM_000855;NM_001256424;X63282;Z50053 AAI30485;AAI30489;AAI44034;CAA44921;CAA90393;EAW67081;NP_000846;NP_001243353;P33402 Hs.24321 1643824;1646475;1648648;1657598;1657738;1659958;1679958;1687750;1688036;1688182;1690712;1725595;1737857;1738213;1749189;1751305;1770772;1782498;2111782;2111826;2154076;2154078;2156210;2172947;2173159 A005X43;D11S1042;D11S2058;D11S3461;D11S3847;D11S4423;D11S4477;D11S4503;G06596;G20584;G62019;RH11863;RH39888;RH68343;RH79569;RH80431;RH93629;SHGC-105164;SHGC-110874;SHGC-34712;SHGC-6008;STS-H49252;STS-Z50053;WI-11973;WI-19175 GC-SA2;GUC1A2 GCS-alpha-2;OTTHUMP00000232532;OTTHUMP00000232533;OTTHUMP00000232534;guanylate cyclase soluble subunit alpha-2;soluble guanylyl cyclase alpha2 subunit APPROVED protein-coding 4684 03146 601244 REVIEWED 736719 GUCA2B guanylate cyclase activator 2B (uroguanylin) This gene encodes a member of the guanylin family, and is expressed in the stomach and intestine. This protein functions as an endogenous ligand for the guanylate cyclase-C receptor and stimulates an increase in cyclic GMP, a key component of several intracellular signal transduction pathways. It maybe involved in salt and water secretion into the intestinal lumen as well as the renal tubules, and thus regulate electrolyte homeostasis in these tissues. [provided by RefSeq, Oct 2011] 1 1 p34-p33 42391679 42394082 + 42619092 42621495 + 704404;1580863;6480464;7204681 20668007 8519795;8141334;8605041;18037771;17582287;15780094;15489334;12548407;12477932;11889121;11431160;11380922;9774236;9698373;9622502;9328941;9268639;7589507 2981 Q16661 ABBA01023139;AC114492;AMYH01000548;BC069301;BC093779;BC093781;CH471059;NM_007102;U34279;U55058;Z50753;Z70295 AAC50416;AAC51729;AAH69301;AAH93779;AAH93781;CAA90629;CAA94311;EAX07169;NP_009033;Q16661 Hs.32966 1678049;2157142 RH91811;SHGC-74666 GCAP-II;UGN OTTHUMP00000007927;guanylate cyclase activator 2B;uroguanylin APPROVED protein-coding ENSG00000044012 4683 03170 601271 VALIDATED 1343485 GUCY2D guanylate cyclase 2D, membrane (retina-specific) This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008] 17 17 p13.1 7846713 7864382 + 7905988 7923658 + 1580863;1599624;6480464;6893539;6907045;7240710 11565546;22074925 11485301;9888789;17474147;1356371;7777544;18541533;18487367;18332321;17724218;17684531;17651254;17041576;16505055;16272259;15556616;15512997;15123990;15111605;12623820;12552567;12365911;11709018;11035546;10037711;9931003;9698373;9683616;9618177;9391039;9097965;8944027;8889548;8641699;8586428;7806240;20588308;18500817;19111294;19753312;19959640;20201926;20453000;8554074;20801516;20301475;20517349;21124868;21552474;22194653;21671801;23035049;22695961;23328348;19436054 3000 Q02846 ABBA01054894;ABBA01054895;AC104581;AJ222657;AMYH01008087;BM931704;CH471108;L26921;M92432;NG_009092;NM_000180 AAA60366;AAA60547;AAI48422;CAA10914;EAW90103;NP_000171;Q02846 Hs.592109 1337214;1338613;1657754;1663521;1722341;1722355;1744061;2130759;7185312;7186002 D17S796;D17S938;G60239;G60247;GDB:385404;SHGC-12631;SHGC-31356;WI-14061 CORD5;CORD6;CYGD;GUC1A4;GUC2D;LCA;LCA1;RCD2;RETGC-1;ROS-GC1;ROSGC;retGC OTTHUMP00000135309;ROS-GC;cone rod dystrophy 6;guanylate cyclase 2D, retinal;retinal guanylyl cyclase 1;rod outer segment membrane guanylate cyclase APPROVED protein-coding ENSG00000132518 4689 02550 204000;600179;601777 REVIEWED 1606865 GUCY2GP guanylate cyclase 2G, pseudogene 10 10 10 q25.2 107795465 107843881 - 114057449 114088847 - 114067936 114116353 - 6480464 19089325;19828552;20210993 390003 ABBA01063005;ABBA01063006;AL157786;AMYH01003074;DY655407;DY655429;EG327740;NR_028134 Hs.534691 GUCY2G APPROVED pseudo ENSG00000243316 31863 VALIDATED 1349301 GUK2 guanylate kinase 2 2988 4694 139280 1349088 GULOP gulonolactone (L-) oxidase, pseudogene This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010] 8 8 8 p21.1 26395229 26406690 + 27491045 27502507 + 27435128 27446590 + 6480464;7240710 14703305;8175804;3214183;20210993 2989 ABBA01005588;AF311103;AMYH01018598;D17460;NG_001136 1761375 SHGC-145392 GULO;SCURVY APPROVED pseudo 4695 INFERRED 732111 GUCY2C guanylate cyclase 2C (heat stable enterotoxin receptor) 12 12 p12 14656843 14740696 - 14765566 14849519 - 1580863;1300048;6480464;6907045 1680854;11950846;16899600;16618413;15825168;14748740;14581363;12649275;12444076;12163327;11889121;11478887;11431160;11042348;10737800;10601865;8962140;8661067;8605253;8381596;7761400;1718270;12477932;19620276;19648115;19694825;19895223;21307149;21577013;22436048;21533822;21901559;22384056;22521417;23269669;23150200 2984 P25092 ABBA01067881;ABBA01067882;AC007545;AC010168;AK310034;AMYH01004302;AW848739;BC136544;BC136545;CH471094;M73489;NM_004963;S57551;U20230 AAA36655;AAB19934;AAC50381;AAI36545;AAI36546;EAW96324;NP_004954;P25092 Hs.524278 1651593;1853834;2106485;2127843;2131017 D12S1832;D12S1894;G41308;GUCY2C__6679;STS-M73489 DIAR6;GUC2C;MECIL;MUCIL;STAR GC-C;OTTHUMP00000239321;STA receptor;guanylate cyclase 2c;guanylyl cyclase C;hSTAR;heat-stable enterotoxin receptor;intestinal guanylate cyclase protein-coding ENSG00000070019 4688 07529 601330;614616;614665 VALIDATED 731765 GUCY2F guanylate cyclase 2F, retinal The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008] X X X q22 109095739 109204892 - 108502791 108611941 - 108616135 108725285 - 1580863;704404;1300048;6480464;6893539;6907045 22074925 9153227;7777544;19351817;17868328;16941478;15772651;9698373;8838319;12477932 2986 P51841 ABBA01043501;ABBA01043502;ABBA01043503;ABBA01043504;ABBA01043505;ABBA01043506;ABBA01043507;ABBA01043508;AL031387;AMYH01022839;BC144241;CH471120;L37378;NG_009175;NM_001522 AAA74451;AAI56675;EAX02681;NP_001513;P51841 Hs.123074 1694086;1719689;1791069;1791071 AL035131;BKT58;BKT59;RH123533 CYGF;GC-F;GUC2DL;GUC2F;RETGC-2;ROS-GC2 OTTHUMP00000023839;guanylate cyclase 2D-like, membrane (retina-specific);guanylate cyclase F;retinal guanylyl cyclase 2;rod outer segment membrane guanylate cyclase 2 APPROVED protein-coding ENSG00000101890 4691 02078 300041 REVIEWED 68653 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 4 4 q31.1-q31.2 156807328 156871232 + 156587862 156658214 + 1580863;1300048;6480464;6907045 9742212;1352257;18550612;16344560;15489334;15201957;14702039;12477932;12107412;10828587;10717483;8613461;8097486;15381706;20964618;21414799;19478201;22174378;22223482;22751097;21909110;21909115;21794866;21725643;22690686 2982 B3KU69;D6RF78;J3KPQ8;J3KQW2;Q02108;Q6PJR4 ABBA01070172;ABBA01070173;ABBA01070174;ABBA01070175;AC104083;AK096588;AK124244;AK226125;AK309950;AK312952;AMYH01014636;BC012627;BC028384;BC039414;BC095395;BX647200;BX649180;CD671731;CH471056;DA518091;DA793192;DA908917;NM_000856;NM_001130682;NM_001130683;NM_001130684;NM_001130685;NM_001130687;NM_001256449;U58855;X66534;Y15723 AAB94794;AAH12627;AAH28384;ADZ15461;BAG53331;CAA47145;CAA75738;EAX04892;EAX04893;EAX04894;EAX04895;EAX04896;EAX04897;NP_000847;NP_001124154;NP_001124155;NP_001124156;NP_001124157;NP_001124159;NP_001243378;Q02108 Hs.24258;Hs.740815 1342367;1645824;1670778;1670921;1672004;1675407;1775488;1777490;2110443;2168159;2174249 A006Q21;D4S3016;GUCY1A3_8391;RH16630;SHGC-11990;SHGC-59801;SHGC-67305;SHGC-67697;SHGC-67982;WI-18619;WI-19855 GC-SA3;GUC1A3;GUCA3;GUCSA3;GUCY1A1 GC-S-alpha-1;GCS-alpha-1;GCS-alpha-3;OTTHUMP00000220596;OTTHUMP00000220597;OTTHUMP00000220600;OTTHUMP00000220601;OTTHUMP00000220603;OTTHUMP00000220604;OTTHUMP00000220605;OTTHUMP00000220606;OTTHUMP00000220608;guanylate cyclase soluble subunit alpha-3;soluble guanylate cyclase large subunit APPROVED protein-coding ENSG00000164116 4685 00768 139396 REVIEWED 731814 GUCY1B3 guanylate cyclase 1, soluble, beta 3 Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha subunit and a beta subunit, typically GUCY1B3, catalyzes conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide (NO) and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM, Mar 2008] 4 4 q31.3-q33 156888572 156947506 + 156680126 156728783 + 1580863;1300048;6480464;6907045 9742212;1352257;16528291;15489334;15381706;12676772;12477932;11572861;10977868;8889548;8613461;8097486;1680753;20105301;20024606;20063108;18029348;19478201;21832049;22223482;22426988;21858179;21909110;21909115;22690686 2983 B7Z426;B7Z685;D6RC99;E9PCN2;Q02153 ABBA01070176;ABBA01070177;AC104083;AC114761;AF020340;AK296680;AK299916;AK300296;AK307838;AK315199;AK315944;AMYH01014636;BC026332;BC047620;BC060835;BM673988;CH471056;DC317683;NM_000857;X66533 AAB94877;AAH47620;BAG37638;BAH12412;BAH13171;BAH13254;BAH14315;CAA47144;EAX04888;EAX04889;EAX04890;EAX04891;NP_000848;Q02153 Hs.77890 1652187;1725749;2146854;2181417;2219108 G62065;GUCY1B3__6678;SHGC-59802;STS-X66533;WI-19177 GC-S-beta-1;GC-SB3;GUC1B3;GUCB3;GUCSB3;GUCY1B1 GCS-beta-1;GCS-beta-3;OTTHUMP00000220584;OTTHUMP00000220586;OTTHUMP00000220587;OTTHUMP00000220588;OTTHUMP00000220590;OTTHUMP00000220591;OTTHUMP00000220593;guanylate cyclase soluble subunit beta-1;guanylate cyclase soluble subunit beta-3;soluble guanylate cyclase small subunit APPROVED protein-coding ENSG00000061918 4687 00769 139397 VALIDATED 5133581 GUSBP10 glucuronidase, beta pseudogene 10 7 7 p11.2 57237319 57251805 - 57233377 57247863 - 9847074 642006 ABBA01028298;ABBA01028299;AC099654;AMYH01017334;DW009603;EG328188;EG328189;NR_030766 Hs.562648 1705446;2143509 GDB:1317750;SHGC-83805 pseudo 42324 PROVISIONAL 5133591 GUSBP12 glucuronidase, beta pseudogene 12 7 7 7 p11.2 55985229 55988074 - 57272674 57273461 - 57268531 57271376 - 9847074 642007 ABBA01028302;AC099654;AMYH01017334;NG_011667 pseudo 42326 INFERRED 1314963 GULP1 GULP, engulfment adaptor PTB domain containing 1 The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 2 q32.3-q33 182752718 183055486 + 188865635 189168898 + 189156396 189460653 + 1580863;6480464 22451657;11729193;10574763;10574771;18230608;15203218;14702039;12477932;15749123;19122200;19721717;20237496;18029348;20599701;21486224;20674096;21139048;16344560;21988832;23167255;22398720 51454 B8ZZL1;H0Y6R1;H7BZV7;Q9BVL3 AB209890;ABBA01062363;ABBA01062364;ABBA01062365;ABBA01062366;ABBA01062367;ABBA01062368;AC092598;AC104131;AC108493;AC125490;AC133606;AF075014;AF191771;AF200715;AK023668;AK055718;AK298626;AK314498;AL080142;AMYH01011343;AW149992;BC001103;BC068525;CD627760;CH471058;DA392794;NM_001252668;NM_001252669;NM_016315;NR_045562;NR_045563 AAF08006;AAF18975;AAH01103;AAX93242;AAY24122;BAD93127;BAG37098;BAG51214;BAG60802;EAX10913;EAX10914;EAX10915;EAX10916;EAX10917;NP_001239597;NP_001239598;NP_057399;Q9UBP9 Hs.470887;Hs.712910 1645308;1661484;1725501;1725599;1750849;1788414;1795960;1848211;2156311 A004R04;G62089;GULP1_1701;RH119147;RH69988;SHGC-104632;SHGC-35724;WI-12408;fb76e10.y1 CED-6;CED6;FLJ31156;GULP OTTHUMP00000163484;OTTHUMP00000205908;OTTHUMP00000205909;OTTHUMP00000205910;OTTHUMP00000205911;OTTHUMP00000205915;PTB domain adapter protein CED-6;PTB domain adaptor protein CED-6;PTB domain-containing engulfment adapter protein 1;cell death protein 6 homolog;engulfment adapter protein APPROVED protein-coding 18649 12181 608165 REVIEWED 1320084 GUK1 guanylate kinase 1 The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 q32-q41 226394605 226403275 + 228327785 228336656 + 1580863;5147874;6480464;6907045 17465459 8663313;211390;16832584;16341674;15489334;12477932;12107411;8647247;6260205;6249178;2164269;21139048;21890473 2987 B1ANG9;B1ANH0;B1ANH2;B1ANH3;B1ANH5;B1ANH6;Q16774;Q6IBG8 ABBA01005831;AK124677;AK125698;AK303845;AL359510;AL832986;AMYH01001791;AW083682;BC006249;BC007369;BC009914;BC069001;BC091480;BE780558;BI771824;BM790067;BQ638787;BU162698;BU194785;BU931096;CH471098;CR456836;CR542006;L76200;NM_000858;NM_001159390;NM_001159391;NM_001242839;NM_001242840;U66895 AAC37598;AAC50659;AAH06249;AAH07369;AAH09914;AAH91480;BAG64788;CAG33117;CAG46803;CAH56207;EAW69851;EAW69852;EAW69853;EAW69854;EAW69855;EAW69856;EAW69857;EAW69858;EAW69859;NP_000849;NP_001152862;NP_001152863;NP_001229768;NP_001229769;Q16774 Hs.376933 1678323;1770778;2137282 RH78169;RH80270;SHGC-76460 FLJ42686;FLJ43710;GMK ATP:GMP phosphotransferase;GMP kinase;OTTHUMP00000037504;OTTHUMP00000037738;OTTHUMP00000037739;OTTHUMP00000037740;OTTHUMP00000037741;OTTHUMP00000037742;OTTHUMP00000037743;OTTHUMP00000037745;OTTHUMP00000037746;OTTHUMP00000037747;OTTHUMP00000037748;OTTHUMP00000037750;OTTHUMP00000037751;guanylate kinase APPROVED protein-coding ENSG00000143774 4693 00755 139270 REVIEWED 1602319 GUF1 GUF1 GTPase homolog (S. cerevisiae) 4 4 4 p12 45128456 45150721 + 44375190 44397454 + 44680433 44702697 + 6480464 18029348;17203973;16344560;15489334;14702039;12477932;8553703;8125298;20877624;22797925 60558 D6RBJ0;Q8N442 ABBA01014311;ABBA01014312;AC096586;AK001607;AK023282;AK025248;AK225314;AK308667;AMYH01014144;BC012338;BC036768;CH471069;DA997676;NM_021927 AAH36768;BAB14507;BAB15090;EAW93017;EAW93018;NP_068746;Q8N442 Hs.546419 EF-4;FLJ13220 GTP-binding protein GUF1 homolog;GTPase GUF1;GTPase of unknown function 1;OTTHUMP00000158768;elongation factor 4 homolog;ribosomal back-translocase;translation factor GUF1, mitochondrial protein-coding ENSG00000151806 25799 07821 VALIDATED 1604454 GUSBP2 glucuronidase, beta pseudogene 2 6 6 p21 26953679 27000971 - 26839266 26924333 - 6480464 14574404;12477932;7680524 387036 AL133255;AMYH01016186;BC034017;BC067351;BC140728;BC171739;NR_003504 AAI71739 Hs.675815 GUSBL1;GUSBP4;MGC22265;SMA3-L;SMAC3L;SMAC3L2;b55C20.1;bA239L20.1;bA239L20.5;bGLU-Lp APPROVED pseudo ENSG00000241549 18792 VALIDATED 5133496 GUSBP11 glucuronidase, beta pseudogene 11 This transcribed pseudogene is similar to two functional genes. The 5' portion of the pseudogene is related to glucuronidase, beta, and the 3' portion is related to immunoglobulin lambda-like polypeptide 1. [provided by RefSeq, Jul 2011] 22 22 22 q11.23 7819764 7898705 - 22310674 22364947 - 23980674 24059610 - 6480464 12477932;14702039;2511029;8678981 91316 ABBA01055117;ABBA01055118;AK025313;AK056875;AK091837;AK125808;AK300413;AMYH01012646;AP000346;AP000347;BC050388;BC063045;BX538181;CR933599;DC322250;NR_024448;S82637;X52203;X52204 AAD14410;BAG62142 Hs.148656 1682878;1687628;1754617;1786256;2136927;2137589;2148536;2156990;2157866;2162015;5015619;5020919;5022322;5024052;5037552;5117238 AF021122;D11S2560;D11S3114;D20S608;D8S2279;GDB:452624;RH40675;RH46913;RH71379;RH78546;RH80784;SHGC-132956;SHGC-144290;SHGC-58010;STS-M27749;WI-22687 FLJ52668 APPROVED pseudo ENSG00000228315 42325 VALIDATED 5133629 GUSBP8 glucuronidase, beta pseudogene 8 5 5 q21.1 98889691 98898129 + 98868332 98870071 + 441066 ABBA01069189;AC114324;AMYH01015499;NG_011668 pseudo 42322 INFERRED 5133611 GUSBP7 glucuronidase, beta pseudogene 7 5 5 q21.1 99429683 99431597 - 99401943 99402121 - 100132456 AC092278;AMYH01015501;NG_011665 pseudo 42321 INFERRED 1351052 GUSM glucuronidase, beta (mouse) modifier 2991 4697 1602952 GVINP1 GTPase, very large interferon inducible pseudogene 1 11 11 11 p15.4 6853465 6862205 - 6690941 6724226 - 6734370 6743110 - 6480464 14702039;12874213;21145461;19369598 387751 Q7Z2Y8 ABBA01028671;AC091564;AK023435;AL833700;AL834507;AMYH01003368;BX538318;BX538342;NR_003945 BAB14573;CAD98105;Q7Z2Y8 Hs.494757;Hs.721746 1712817;5022578 D1S1423;RH120124 FLJ13373;GVIN1;GVIN1P;VLIG-1;VLIG1 APPROVED pseudo ENSG00000254838 25813 PROVISIONAL 1606696 GUSBP1 glucuronidase, beta pseudogene 1 5 5 5 p14.3 21450280 21454118 + 21495180 21533132 + 21459589 21589481 + 6480464 7977382;15489334;15372022;14702039;12477932;8565635;7894161;16169070;16344560;22990118 728411 B7ZVW5;Q15486 ABBA01054507;ABBA01054508;ABBA01054509;ABBA01054510;ABBA01066575;AC091946;AC138951;AK095656;AK290693;AMYH01014965;BC038977;BC052307;BC064850;BC070045;BC094818;BC147000;BQ012501;BX109638;DA358891;NR_027026;NR_027027;NR_027028 BAF83382;BAG53099 Hs.88181 1673753;1683972;1690720;5019042;5111991;5113395;5119357;5119377;5119411;5122601 AL031505;D5S2202E;D5S2249E;D5S2302E;D6S2031;G43513;G43646;RH26297;RH70780;RH94059 SMA3 pseudo ENSG00000183666 13670 VALIDATED 7242322 GVQW1 GVQW motif containing 1 p21.1 101362076 Q8N7I0 AK098413 BAC05300 Hs.664395 5022200;5037552 D8S2279;L18426 bA205M20.5 APPROVED protein-coding 31424 737258 GUSB glucuronidase, beta This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, Nov 2009] 7 7 q21.11 65063106 65084681 - 65425671 65447301 - 704404;1580863;1300048;6480464;6907045;7240710 1916806;3468507;1465145;19224584;18591914;16335952;16272959;15489334;15342556;15314220;14718574;14702039;14612292;14502216;12905469;12754519;12716937;12690205;12522561;12477932;11513863;11238657;10961372;10562416;9268591;9152401;9016822;8889548;8644704;8599764;8537326;8505339;8348154;8125298;8111413;8111412;7680524;3987656;3924735;2833520;1702266;1311180;401508;12695355;21073651;18029348;21963094;21988832;21890473;21906983;22525089;22268729 2990 E9PCV0;F2Z3L6;F8WBK6;P08236 ABBA01049009;ABBA01049010;ABBA01049011;AC073261;AK096764;AK223406;AK300223;AK303819;AK311273;AK312752;AMYH01017483;BC014142;BM719712;BP284405;CH236961;CH471140;DC346632;M10618;M15182;M65002;NG_016197;NM_000181;S72462 AAA52561;AAA52621;AAA52622;AAD14101;AAH14142;AAQ96851;ABM83867;ABM87189;BAD97126;BAG35619;BAG61991;BAG64768;EAL23740;EAX07949;EAX07950;EAX07951;NP_000172;P08236 Hs.255230 1681267;1687628;2107199;2129952;2139152;5122140 D5S578;D7S2793;GUSB;GUSB_7797;RH40675;RH40687 BG;FLJ39445;MPS7 OTTHUMP00000159848;OTTHUMP00000210106;beta-D-glucuronidase;beta-G1;beta-glucuronidase APPROVED protein-coding ENSG00000169919 4696 02018 253220;611499 REVIEWED 5129242 GXYLT1P1 glucoside xylosyltransferase 1 pseudogene 1 13 13 13 q11 369135 370117 - 18195860 18196842 - 19297860 19298842 - 100101111 ABBA01068528;AL391382;AMYH01004930;NG_006142 pseudo 39676 INFERRED 5129245 GXYLT1P2 glucoside xylosyltransferase 1 pseudogene 2 21 21 21 q11.2 417262 419245 + 14117863 14119846 - 15195992 15197975 - 441958 ABBA01057063;AL109748;AMYH01012135;NG_006139 pseudo 39677 INFERRED 4145629 GVINP2 GTPase, very large interferon inducible pseudogene 2 11 11 11 p15.4 6889283 6890706 + 6726758 6728181 + 6769356 6771600 + 19369598 100128135 ABBA01028671;AC091564;AMYH01003368;NG_028988 1736987 D11S2706 pseudo 38876 INFERRED 1606065 GUSBP5 glucuronidase, beta pseudogene 5 4 4 4 q31.21 141810632 141812620 + 144700075 144702063 + 144480625 144482613 + 19404257;12477932 441046 ABBA01070003;AC139713;AMYH01014583;BC025996;NR_003675 Hs.135705 GYPELOC441046 APPROVED pseudo ENSG00000236296 42319 17402 VALIDATED 1350401 GUSBP4 glucuronidase, beta pseudogene 4 6 6 6 p11.2 1133006 1135424 - 58354151 58395604 - 58246159 58287724 - 16344560;14702039;12477932;10737800;7680524 375513 ABBA01018452;AK023611;AK026691;AL021368;AL162041;AL831827;AMYH01016375;AW955360;BC011838;BC017330;BC030061;BC065547;BC144584;BC144585;BE146054;BI907421;BM553931;BQ574062;CH878343;DB060896;NR_003660 EAW50460;EAW50461;EAW50462;EAW50463;EAW50464;EAW50465;EAW50466;EAW50467;EAW50468;EAW50469;EAW50470 Hs.561539;Hs.675815;Hs.744093 1683667;5111965 G43523;RH66588 C6orf216;DKFZp547L1213;FLJ13549;FLJ23038;GUSBL2;SMA3-L;SMAC3L;b55C20.2 APPROVED pseudo 18220 16667 VALIDATED 2796334 GUSBP3 glucuronidase, beta pseudogene 3 5 5 q13.2 68969565 68985169 - 68935290 68941896 - 12477932;14702039;15342556;17213182;7552146;7977382;7818533;22990118 653188 AC118459;AC139495;AK124130;AK289965;AMYH01015204;AMYH01015205;AMYH01015206;AMYH01015207;AMYH01015208;AMYH01015209;AMYH01015210;AMYH01015211;AMYH01015212;AMYH01015213;AMYH01015214;AMYH01015215;AMYH01015216;AMYH01015217;AMYH01015218;AMYH01015219;AMYH01015220;AMYH01015221;AMYH01015222;AMYH01015223;AMYH01015224;AMYH01015225;AMYH01015226;AMYH01015227;AMYH01015228;AMYH01015229;AMYH01015230;AMYH01015231;AMYH01015232;AMYH01015233;AMYH01015234;AMYH01015235;AMYH01015236;AMYH01015237;AMYH01015238;AMYH01015239;AMYH01015240;AMYH01015241;AMYH01015242;AMYH01015243;AMYH01015244;AMYH01015245;AMYH01015246;AMYH01015247;AMYH01015248;AMYH01015249;AMYH01015250;AMYH01015251;AMYH01015252;AMYH01015253;AMYH01015254;AMYH01015255;AMYH01015256;AMYH01015257;AMYH01015258;AMYH01015259;AMYH01015260;AMYH01015261;AMYH01015262;AMYH01015263;AMYH01015264;AMYH01015265;AMYH01015266;AMYH01015267;AMYH01015268;AMYH01015269;AMYH01015270;AMYH01015271;AMYH01015272;AMYH01015273;AMYH01015274;AMYH01015275;AMYH01015276;AMYH01015277;AMYH01015278;AMYH01015279;AMYH01015280;AMYH01015281;AMYH01015282;AMYH01015283;AMYH01015284;AMYH01015285;AMYH01015286;AMYH01015287;AMYH01015288;AMYH01015289;AMYH01015290;AMYH01015291;AMYH01015292;AMYH01015293;AMYH01015294;AMYH01015295;AMYH01015296;AMYH01015297;AMYH01015298;AMYH01015299;AMYH01015300;AMYH01015301;AMYH01015302;AMYH01015303;AMYH01015304;AMYH01015305;AMYH01015306;AMYH01015307;AMYH01015308;AMYH01015309;AMYH01015310;AMYH01015311;AMYH01015312;AMYH01015313;AMYH01015314;AMYH01015315;AMYH01015316;AMYH01015317;AMYH01015318;AMYH01015319;AMYH01015320;AMYH01015321;AMYH01015322;AMYH01015323;AMYH01015324;AMYH01015325;AMYH01015326;AMYH01015327;AMYH01015328;AMYH01015329;AMYH01015330;AMYH01015331;AMYH01015332;AMYH01015333;AMYH01015334;AMYH01015335;AMYH01015336;AMYH01015337;AMYH01015338;AMYH01015339;AMYH01015340;AMYH01015341;AMYH01015342;AMYH01015343;AMYH01015344;AMYH01015345;AMYH01015346;AMYH01015347;AMYH01015348;AMYH01015349;AMYH01015350;AMYH01015351;AMYH01015352;AMYH01015353;AMYH01015354;AMYH01015355;AMYH01015356;AMYH01015357;AMYH01015358;AMYH01015359;AMYH01015360;AMYH01015361;AMYH01015362;AMYH01015363;AMYH01015364;AMYH01015365;AMYH01015366;AMYH01015367;AMYH01015368;AMYH01015369;AMYH01015370;AMYH01015371;AMYH01015372;AMYH01015373;AMYH01015374;AMYH01015375;AMYH01015376;AMYH01015377;AMYH01015378;AMYH01015379;AMYH01015380;AMYH01015381;AMYH01015382;AMYH01015383;BC051369;BT006760;DT218991;L40518;NR_027386;U21555;X83299 AAP35406;ABM92191;BAF82654;CAA58278 Hs.631974;Hs.652536;Hs.654588 1721607;5014039;5017352;5020885;5119373;5120500;5122601 AL031505;D22S1584;D5F147S1;D5S2237E;G59813;L17791;WI-19224 FLJ42136;MGC22265 pseudo ENSG00000253203 37301 VALIDATED 5129386 GYG1P1 glycogenin 1 pseudogene 1 8 8 8 q21.11 70814530 70824977 - 74980143 74989799 - 74816834 74827341 - 100132965 ABBA01041974;AC022868;AMYH01018798;NG_021230 pseudo 39712 INFERRED 5129397 GYG1P2 glycogenin 1 pseudogene 2 13 13 13 q31.1 64294794 64296501 + 82295266 82296279 + 83397174 83398912 + 647317 ABBA01021733;AL356294;AMYH01005244;NG_021231 pseudo 39710 INFERRED 5129402 GYG1P3 glycogenin 1 pseudogene 3 1 1 1 p32.3 53975516 53977311 + 55460640 55461633 + 55687952 55689749 + 645506 ABBA01074698;AC091609;AMYH01000641;NG_021229 1734452;5022745 D1S1761E;GYG1 pseudo 39711 INFERRED 6481405 GYG2-AS1 GYG2 antisense RNA 1 100873938 AC138085 APPROVED miscrna 40270 5129381 GYG2P2 glycogenin 2 pseudogene 2 1 1 178195212 178196079 + 205060291 205061158 + 100418892 ABBA01027432;AL583832;AMYH01001667;NG_027191 pseudo 39713 INFERRED 1346797 GYG2P1 glycogenin 2 pseudogene 1 Y Y Y q11.21 1504150 1519624 - 13028502 13043612 - 14517915 14533389 - 12815422;10542153;16344560;18487259 352887 A6NHG5;A6NIC0;A6NLN9;A6NMX1 AB371555;ABBA01065654;AC002992;BF026648;BX280068;DA362627;NR_033667 Hs.546221 2188841 G65852 GYG2P APPROVED pseudo ENSG00000206159 4701 VALIDATED 5133544 GUSBP9 glucuronidase, beta pseudogene 9 5 q13.2 70498024 70503957 - 12477932;15146197;8889548 100049076 AC139463;AC145138;AC146335;AC146949;AMYH01015400;AW500063;BC104473;CF141910;CN312642;NR_033968 Hs.529793;Hs.665231 MGC129979 pseudo 42323 VALIDATED 1625085 GXYLT2 glucoside xylosyltransferase 2 GXYLT2 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010] 3 3 3 p13 72871536 72958684 + 73020075 73107215 + 72937385 73024525 + 6480464;6907045 12477932;19940119 727936 A0PJZ3;C9J3Q6;C9JND4 ABBA01030956;ABBA01030957;ABBA01030958;AC098481;AC114876;AMYH01013280;BC127733;NM_001080393 A0PJZ3;AAI27734;NP_001073862 Hs.710275 1337903;1708670;1758873;1766757 D3S1284;SHGC-151091;SHGC-152064;SHGC-81476 GLT8D4 OTTHUMP00000213540;glucoside xylosyltransferase 2;glycosyltransferase 8 domain containing 4;glycosyltransferase 8 domain-containing protein 4 APPROVED protein-coding 33383 613322 PROVISIONAL 1606923 GXYLT1 glucoside xylosyltransferase 1 GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010] 12 12 12 q12 41277461 41340510 - 40761914 40824940 - 42475647 42538673 - 6480464;6907045 14702039;12477932;19940119;16196087;21139048 283464 Q4G148 ABBA01031395;ABBA01031396;AC023513;AK021504;AK021752;AK125141;AL832209;AMYH01004400;BC015597;BC030023;BC039145;CH471111;NM_001099650;NM_173601 AAH15597;AAH30023;AAH39145;BAG54154;EAW57832;EAW57833;NP_001093120;NP_775872;Q4G148 Hs.259347 1723067;1746883;1849244;1856549;2115559 G64796;RH121885;RH44739;STS-N66970;WI-21513 FLJ43151;GLT8D3 OTTHUMP00000240951;OTTHUMP00000240952;glucoside xylosyltransferase 1;glycosyltransferase 8 domain containing 3;glycosyltransferase 8 domain-containing protein 3 APPROVED protein-coding ENSG00000151233 27482 613321 VALIDATED 1348748 GYG1 glycogenin 1 This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 3 3 q24-q25.1 150192065 150228109 + 148709195 148745456 + 1302293;1580863;2303736;2304070;6480464;7240710 8602861;8224611;10710493 12051921;17055998;2493642;10924520;17311895;16189514;15870102;15860684;15489334;12477932;11916970;10721716;10395894;9857012;9346895;8661012;8325847;22198226;20357282;1281472;20562859;14984203;21139048;21890473;21628590;21988832 2992 C9J7C7;C9J8R8;C9JQ42;G5E9W8;P46976 AA191440;ABBA01058948;ABBA01058949;AC021059;AF065481;AF087942;AK299962;AK312283;AMYH01013568;BC000033;BC031096;BG702275;CH471052;CR536547;NG_027677;NM_001184720;NM_001184721;NM_004130;U31525;U44131;X79537 AAB00114;AAB09752;AAD31084;AAD52093;AAH00033;AAH31096;BAG35212;BAG61788;CAA56073;CAG38784;EAW78894;EAW78895;EAW78896;EAW78897;EAW78898;EAW78899;EAW78900;EAW78901;NP_001171649;NP_001171650;NP_004121;P46976 Hs.477892 1721605;1734452;2139432;2151007;2219110;5106265 D1S1761E;D3S4076;G59812;GYG__6680;STS-X79537;WI-19179 GSD15;GYG GN-1;GN1;OTTHUMP00000215731;OTTHUMP00000215732;OTTHUMP00000215734;OTTHUMP00000215737;glycogenin glucosyltransferase;glycogenin-1 APPROVED protein-coding ENSG00000163754 4699 06805 603942;613507 REVIEWED 1342753 GYPA glycophorin A (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008] 4 4 q31.21 145249906 145281294 - 145030456 145061904 - 1580863;6480464;6907045;7240710 8953647;1421409;14681217;3456608;8245024;19438409;19071041;18510579;17456399;17452518;17372674;16424825;16205834;16003235;15819453;15783300;15761857;15754970;15489334;14604989;14550622;12949139;12813056;12492375;12477932;12189808;12165956;11936216;11861881;10729812;10644812;9490702;9269716;9082985;8535438;8444872;8286855;7798177;7762218;7718894;7622054;7040988;3809885;3477806;3345758;3198123;3196288;2792104;2753361;2734312;2386609;2216775;2016325;2015404;1932122;1737789;1611092;1560003;1059087;16179731;20560530;16344560;19300500;19907019;20010834;20010835;20074546;20173748;20233359;20434428;8785502;20603102;21119205;21455273;21072853;15067009 2993 B8Q182;B8Q185;D6RJD8;E7EQF3;E9PD10;E9PH25;P02724;Q13030 ABBA01070009;AC107223;AF325923;AJ309704;AJ309705;AJ309706;AJ309707;AJ309828;AJ309829;AJ309830;AJ309831;AJ309832;AJ309833;AJ309834;AJ309835;AJ309836;AJ309837;AJ309838;AJ309839;AJ309840;AJ309841;AJ309842;AJ309843;AJ309844;AJ309845;AJ311318;AJ311319;AJ311320;AJ311321;AJ311322;AJ311323;AJ311324;AJ311325;AJ311326;AJ311327;AJ311328;AJ311329;AJ311330;AJ311331;AJ311332;AK290561;AMYH01014588;AY297541;AY297542;AY297543;AY297544;AY297545;AY297546;AY297547;AY297548;AY297549;AY297550;AY950613;AY950614;AY950615;BC005319;BC013328;BX649043;CH471056;DA537533;EU338231;EU338232;EU338233;EU338234;L07251;L07253;L31860;M12857;M24128;M36281;M60707;M81826;M87884;NG_007470;NM_002099;S77077;S77082;U00177;U00178;U00179;X08054;X15823;X51798;X57023 AAA18258;AAA52624;AAA52768;AAA58616;AAA88044;AAA88051;AAB34407;AAB34408;AAC27543;AAC34718;AAC46257;AAC46258;AAC50057;AAC50058;AAG59990;AAH05319;AAH13328;AAR05989;AAR05990;AAR05991;AAR05992;AAR05993;AAR05994;AAR05995;AAR05996;AAR05997;AAR05998;AAX53134;AAX53135;AAX53136;ABM83972;ACA96789;ACA96790;ACA96791;ACA96792;BAF83250;CAA30843;CAA33821;CAA36095;CAA40340;CAC82326;CAC82327;CAC82328;CAC82329;CAC82330;CAC82331;CAC82332;CAC83868;CAC83869;CAC83870;CAC83871;CAC83934;CAC83935;CAC83936;CAC83937;CAC83938;CAC83939;CAC83940;CAC83941;CAC83942;CAC83943;CAC83944;CAC85268;CAC85269;CAC85270;CAC85271;CAC85272;CAC85273;CAC85274;CAC85275;CAC85276;CAC85277;CAC85278;CAC85279;CAC85280;CAC85281;CAC85282;EAX05061;EAX05062;NP_002090;P02724 Hs.434973 1670501;1684062;1708266;1847187;2141014;2217404;5117058 GDB:409935;GYPA_3992;RH99179;SHGC-12331;SHGC-67829;SHGC-67855;SHGC-79398 CD235a;GPA;GPErik;GPSAT;GpMiIII;HGpMiIII;HGpMiV;HGpMiX;HGpMiXI;HGpSta(C);MN;MNS;PAS-2 MN sialoglycoprotein;Mi.V glycoprotein (24 AA);OTTHUMP00000220153;OTTHUMP00000220154;OTTHUMP00000220156;OTTHUMP00000220157;OTTHUMP00000220158;OTTHUMP00000220159;PAS-2;erythroid-lineage-specific membrane sialoglycoprotein;glycophorin A (MN blood group);glycophorin A, GPA;glycophorin Erik;glycophorin MiI;glycophorin MiIII;glycophorin MiV;glycophorin MiX;glycophorin SAT;glycophorin Sta type C;glycophorin a (includes mn blood group);glycophorin-A;recombinant glycophorin A-B Miltenberger-DR;sialoglycoprotein alpha APPROVED protein-coding ENSG00000170180 4702 07508 111300;611162 REVIEWED 1352730 GYPB glycophorin B (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008] 4 4 q31.21 145136707 145159946 - 144917257 144940496 - 1580863;6480464;6907045;7240710 7622054;2295603;2734312;19279206;18510579;18284304;18067501;17561857;17372674;15489334;14641872;14638759;12949139;12869123;12477932;11239234;9269716;8563755;8535438;8444872;8193374;8144668;7806496;7798177;3595615;3571235;3477806;3196288;2016325;2015404;1971625;1611092;17207965;19564639;19856717;20431033;21283638;10827259;1737789;21883272 2994 B8Q174;D6RA87;D6RAD9;D6RBP2;E7ERJ5;P06028 ABBA01070007;AC093890;AF090739;AJ309709;AJ309710;AJ309711;AJ309712;AMYH01014588;AY297551;AY297552;AY297553;AY297554;AY297555;AY297556;AY297557;AY297558;AY297559;AY509882;AY509883;AY950609;AY950610;AY950611;AY950612;BC069310;BC121077;BC121078;CH471056;EU338223;EU338224;EU338225;EU338226;EU338227;EU338228;EU338229;EU338230;EU338235;EU338236;EU338237;EU338238;J02982;L31861;L31862;M24137;M33505;M60708;M60709;M60710;M81079;NG_007483;NM_002100;U05254;U05255;X08055;XM_003846676 AAA19251;AAA35928;AAA35929;AAA52573;AAA53152;AAA58626;AAC36159;AAC36314;AAC41695;AAC41696;AAC50503;AAC63048;AAH69310;AAI21078;AAI21079;AAR05999;AAR06000;AAR06001;AAR06002;AAR06003;AAR06004;AAR06005;AAR06006;AAR06007;AAR97607;AAR97608;AAX53130;AAX53131;AAX53132;AAX53133;ACA96781;ACA96782;ACA96783;ACA96784;ACA96785;ACA96786;ACA96787;ACA96788;ACA96793;ACA96794;ACA96795;ACA96796;ADQ32898;CAB42645;CAC83873;CAC83874;CAC83875;CAC83876;EAX05058;NP_002091;P06028;XP_003846724 Hs.654368 1654412;1658486;1667715;1669079;1776192;2131496;2163013;2173063;2217404;5022325 D4S3137;G17370;G22676;GYPA_3992;RH18355;SHGC-50664;SHGC-52748;SHGC-58133;SHGC-59536;SHGC-59545 CD235b;GPB;GPB.NY;GYPHe.NY;GpMiIII;HGpMiIII;HGpMiVI;HGpMiX;MNS;PAS-3;SS OTTHUMP00000220160;OTTHUMP00000220163;OTTHUMP00000220165;OTTHUMP00000220168;PAS-3;SS-active sialoglycoprotein;Ss blood group;glycophorin HeP2;glycophorin MiIII;glycophorin MiVI;glycophorin MiX;glycophorin b (includes ss blood group);glycophorin-B;sialoglycoprotein delta APPROVED protein-coding ENSG00000250361 4703 00201 111740;611162 REVIEWED 1344312 GYG2 glycogenin 2 This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010] X X X p22.3 7027258 7081096 + 2756863 2810861 + 2746863 2800861 + 1580863;6480464 12051921;9346895;9691087;18029348;15489334;14702039;12477932;11840567;10721716;9857012;1281472;16189514;20098747;21832049 8908 B3KUV6;E5RIC9;J3QSZ3;O15488;Q1ZYL7 ABBA01038615;ABBA01038616;ABBA01038617;ABBA01038618;ABBA01038619;ABBA01038620;AC005295;AC138085;AF179624;AK098046;AK292496;AMYH01022014;AMYH01022015;BC023152;CB410312;CH471074;DQ424901;NG_021257;NM_001079855;NM_001184702;NM_001184703;NM_001184704;NM_003918;U94357;U94358;U94360;U94361;U94362;U94363 AAB84373;AAB84374;AAB84375;AAB84376;AAB84377;AAB84378;AAF61855;AAH23152;ABD83666;ABM82032;ABM85213;BAF85185;BAG53568;EAW98705;EAW98706;EAW98707;EAW98708;EAW98709;EAW98710;EAW98711;EAW98712;NP_001073324;NP_001171631;NP_001171632;NP_001171633;NP_003909;O15488 Hs.567381;Hs.701629 1651860;1654505;1675229;1711806;1722023;1855370;2107201;2130220 G49430;G59898;GYG2__7558;RH65915;RH70016;SHGC-37451;STS-Z40932;WIAF-2180 GN-2;GN2 OTTHUMP00000022853;OTTHUMP00000022855;OTTHUMP00000225770;glycogenin glucosyltransferase;glycogenin-2 APPROVED protein-coding ENSG00000056998 4700 02185 300198 REVIEWED 1605885 GYLTL1B glycosyltransferase-like 1B 11 11 11 p11.2 46090798 46098250 + 45899772 45907223 + 45943196 45950647 + 6480464 16341674;15958417;15752776;15661757;15498874;15489334;14702039;12477932;19724895;19851296;20198315;23223448 120071 B3KP69;E9PIZ2;F8W6C4;H0YDB8;H0YDU6;Q8N3Y3 ABBA01060756;ABBA01060757;AC068385;AF258588;AK055829;AK092526;AK096021;AMYH01003532;BC037291;BM840813;CH471064;NM_152312 AAG23791;AAH37291;ABM82471;ABM85277;ABM87867;BAC03909;BAC04675;BAG51581;EAW68020;EAW68021;NP_689525;Q8N3Y3 Hs.86543 1765505 SHGC-148984 FLJ35207;LARGE2;PP5656 OTTHUMP00000234836;OTTHUMP00000234837;OTTHUMP00000234838;glycosyltransferase-like protein LARGE2;like-glycosyltransferase 2;ortholog of mouse glycosyltransferase-like 1B protein-coding ENSG00000165905 16522 13618 609709 VALIDATED 1321115 GYPC glycophorin C (Gerbich blood group) Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 2 2 q14-q21 127130154 127170716 + 127413511 127454251 + 1580863;6480464;6907045;7240710 16669616;2416746;8219208;15815621;15489334;14695625;12576308;12477932;12469115;12058555;11423550;9305870;9153243;7683929;7106126;6712635;4074499;3793105;3606576;3595602;3571235;3544149;2917976;2818576;2776757;2584223;2349119;1991173;1719701;1413665;19149918;19679754;20306291;20932076;21061946;22449649 2995 P04921 AA913940;ABBA01040223;AC013474;AK312032;AMYH01011016;AY838876;BC016653;BC104246;BC104247;BC106051;CB992018;CH471103;M11802;M28335;M29662;M36284;NG_007479;NM_001256584;NM_002101;NM_016815;X12496;X13890;X14242;X51973 AAA52574;AAA52625;AAA52626;AAA60023;AAI04247;AAI04248;AAI06052;AAV80423;AAY14660;BAG34969;CAA31016;CAA32093;CAA32458;CAA36235;EAW95275;EAW95276;NP_001243513;NP_002092;NP_058131;P04921 Hs.59138 1681450;1741515;2119264;2120126;2130821;2131900;2166093;2219112 Bdy37c01;D2S2865;G13290;GDB:181270;GYPC_3993;RH17947;RH93375;SHGC-52544 CD236;CD236R;GE;GPC;GPD;GYPD;MGC117309;MGC126191;MGC126192;PAS-2;PAS-2' GPD;OTTHUMP00000162176;OTTHUMP00000203779;PAS-2';glycoconnectin;glycophorin-C;glycophorin-D;glycoprotein beta;sialoglycoprotein D APPROVED protein-coding ENSG00000136732 4704 00193 110750;611162 REVIEWED 1353887 GYPE glycophorin E (MNS blood group) The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 4 4 q31.1 145011469 145046166 - 144792019 144826716 - 1580863;6480464 7622054;2295603;15489334;12949139;12477932;10862083;7798177;7521873;2390989;2249783;1591491;1421409 2996 E9PCN6;P15421 ABBA01070007;AC093890;AC109812;AF085899;AF239849;AF239850;AMYH01014585;AMYH01014586;AY297560;AY297561;AY297562;AY297563;AY297564;AY297565;AY297566;AY297567;AY297568;AY297569;BC017864;BC064396;BG528203;BX091225;CH471056;L31858;L31863;M29604;M29605;M29606;M29607;M29608;M29609;M29610;M57232;M57233;M57234;N38976;NG_009173;NM_002102;NM_198682;X53004;X53005;X53006;X53008;X53009;X53010 AAA35923;AAA52575;AAA52766;AAA63179;AAC41697;AAF97047;AAH17864;AAR06008;AAR06009;AAR06010;AAR06011;AAR06012;AAR06013;AAR06014;AAR06015;AAR06016;AAR06017;ABW03465;CAA37189;CAA37191;EAX05065;EAX05066;EAX05067;NP_002093;NP_941391;P15421 Hs.654368;Hs.728753 1654412;1658486;1667715;1847187;2141014;2163013;2173063;5022325;5123287 D4S3137;G22676;RH18355;RH45347;SHGC-58133;SHGC-59536;SHGC-59545;SHGC-67829;SHGC-67855 GPE;MNS;MiIX OTTHUMP00000220150;OTTHUMP00000220152;glycophorin-E APPROVED protein-coding ENSG00000197465 4705 00723 138590 REVIEWED 1318777 GZF1 GDNF-inducible zinc finger protein 1 20 20 20 p11.21 23418394 23427056 + 23293021 23301683 + 23345021 23353683 + 1580863;6480464 17674968;16049025;14702039;14522971;12477932;11780052;8889548;21292309 64412 B4DF58;F5H2R0;Q5JXG1;Q9H117 AA062926;AB100265;ABBA01016176;ABBA01016177;AK025447;AK056159;AK056477;AK289814;AK293942;AK295362;AK314599;AL096677;AMYH01011775;BC016049;BC125188;BC154409;BE348947;BM975844;CH471133;NM_022482 BAB15134;BAB71107;BAC98464;BAF82503;BAG37170;BAG51726;BAG57319;BAG58326;EAX10159;EAX10160;EAX10161;NP_071927;Q9H116 Hs.709462 1649683;1676318;1678497;1756779;1770800 G29232;RH91829;RH98410;SHGC-143912;STS-R68835 ZBTB23;ZNF336 GDNF-inducible zinc finger protein 1;OTTHUMP00000030431;zinc finger and BTB domain-containing protein 23;zinc finger protein 336 protein-coding ENSG00000125812 15808 15778 613842 VALIDATED 1320086 GYS1 glycogen synthase 1 (muscle) The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 q13.3 54163194 54188361 - 49471382 49496610 - 1580863;1642743;2304106;2313176;2313172;6480464;6484113;6907045;7240710 6449198;12297270;9267990;17356695 2493642;10924520;16282323;17055998;17353931;19420105;19339242;18996102;18544618;17928598;17137217;16189514;15955076;15855312;15489334;15342556;15282316;15194499;12870167;12732844;12477932;12411100;11427888;11251056;11147787;11092303;9628874;9346895;9010351;8449521;8125298;8062946;7657035;7631777;6772446;2117608;16115820;20562859;21145461;20300197;19578796;19615732;19773279;19837931;20017397;20384434;19913121;20602615;20628086;21832049;16275910;21139048;21890473;21906983;21987572;22403297;23134486;21963094;23000965;23321478;8280084;21985244;22505724;22952844 2997 B7Z806;F5H1N8;F5H3S3;M0QYU1;P13807 ABBA01032952;ABBA01032953;ABBA01032954;AC008687;AC026803;AC098792;AK223579;AK291672;AK294349;AK300369;AK302738;AK303712;AMYH01009908;BC002617;BC003182;BC007688;BP313940;CH471177;J04501;NG_012923;NM_001161587;NM_002103;NR_027763;U32573;Z33622 AAA88046;AAB60385;AAH02617;AAH03182;AAH07688;BAD97299;BAF84361;BAH11741;BAH13272;BAH13792;BAH14026;CAA83916;EAW52424;EAW52425;NP_001155059;NP_002094;P13807 Hs.386225 2107203;2134864;5094916 D19S987;GYS1;GYS1_7799 GSY;GYS OTTHUMP00000198371;OTTHUMP00000198373;glycogen [starch] synthase, muscle 2289232 BW89_H APPROVED protein-coding ENSG00000104812 4706 00721 138570;611556 REVIEWED 1353495 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein encoded by this gene is crucial for the rapid induction of target cell apoptosis by CTL in cell-mediated immune response. [provided by RefSeq, Jul 2008] 14 14 q11.2 24170000 24173272 - 25100160 25103432 - 1580863;5135518;5135516;5135517;6480464;6484113;6907045 19737140;20540777;20018616 11911826;12524539;11331782;18029348;11114298;11909973;19543056;19446661;19343046;19258923;19157637;19145036;19141860;19141320;19079360;18836177;18814951;18785318;18772390;18675462;18580471;18568772;18523274;18317234;18311812;18275349;18024321;17996944;17976318;17869012;17825804;17785818;17703412;17620340;17568588;17493234;17485116;17437484;17283187;17258890;17224449;17202328;17198275;17116752;17077322;17055354;17015688;16952444;16908262;16794249;16611405;16547254;16547231;16524880;16415351;16336214;16166746;16107729;15998831;15880044;15843372;15818305;15788411;15699075;15673968;15641052;15569669;15528317;15494398;15489334;15340161;15302935;15238416;15069086;15014070;14996347;14967307;14752093;14739229;14697980;14696402;14635036;14512315;14499262;12919092;12913938;12721789;12648453;12648450;12645627;12483306;12477932;12388539;12384430;12218164;12200377;12135665;12009596;11802788;11665980;11406587;11325591;11266473;11209755;11160179;11085743;11081635;11050075;10228010;9852092;9727491;9694885;9651578;9642276;9586635;9464839;9337844;9233763;8910377;8900201;8770355;8631895;8156655;3263427;3262682;3261871;3258865;2953813;2788607;2402757;2365998;2332171;2323780;2300587;2193684;2049336;1985927;1067155;15911377;15650747;22387007;22476618;20388708;20536562;20449762;20027633;20825413;19458908;19592644;19759420;19796544;19801510;19956856;20035050;20038786;20087581;20194725;20371822;20410501;19175398;20503287;20800603;20959405;20394077;21042704;20497195;21326808;21156847;20633650;20618609;21203542;21458778;21301799;21349256;21548883;21709155;21884199;22438997;22547705;21964027;22142046;22194691;22050094;21948366;21960590;21886827;22759804;22084442;22172867;22089193;21919028;22479366;12874291;23440692;8760815;23598339;23321919;23321921;23228447;23377437;17008916;23326234;22430249;23407551;16798735;23172556 3002 E7EUV0;E9PID1;E9PLX4;E9PRD7;J3KPK2;J3KQ52;P10144;Q67BC3 ABBA01061346;AL136018;AMYH01005615;AY232654;AY232655;AY232656;AY372494;BC030195;BX283601;CB528665;CH471078;J03072;J03189;J04071;M17016;M28879;M38193;NG_028340;NM_004131 AAA36603;AAA36627;AAA52118;AAA67124;AAA75490;AAB59528;AAH30195;AAP70244;AAP70245;AAP70246;AAR23323;ABW03325;EAW66002;EAW66003;NP_004122;P10144 Hs.1051 1794864;2127351 D14S1256;PMC60854P1 CCPI;CGL-1;CGL1;CSP-B;CSPB;CTLA1;CTSGL1;HLP;SECT C11;CTLA-1;OTTHUMP00000028189;OTTHUMP00000178755;OTTHUMP00000228682;T-cell serine protease 1-3E;cathepsin G-like 1;cytotoxic T-lymphocyte proteinase 2;cytotoxic serine protease B;fragmentin 2;fragmentin-2;granzyme B;granzyme-2;human lymphocyte protein;lymphocyte protease 2315792 GLUCO171_H APPROVED protein-coding ENSG00000100453 4709 00476 123910 REVIEWED 1348061 GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3' and P4' positions. This protein is reported to be constitutively expressed in NK cells and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 14 14 q11.2 24145533 24148704 - 25075686 25078926 - 1580863;6480464 2193684;2402757;19039329;17766182;17765974;17409270;17363894;15489334;15069086;12515723;12477932;10521426;9920846;2300587;2049336;2007574;20800603;19913121;20628086;23269243;22156339;22156497;19024195 2999 P20718 ABBA01061345;AL136018;AMYH01005614;AW204493;AY232657;AY232658;BC027974;BQ054303;CD000418;CH471078;J02907;M36118;M57888;M59718;M72150;NM_001270780;NM_001270781;NM_033423 AAA03248;AAA03514;AAA74885;AAA76859;AAH27974;AAP70247;AAP70248;ABM82994;ABM86187;EAW66004;EAW66005;NP_001257709;NP_001257710;NP_219491;P20718 Hs.348264 2158128;5091068 RH71382;STS-R53038 CCP-X;CGL-2;CSP-C;CTLA1;CTSGL2 OTTHUMP00000178753;OTTHUMP00000245745;cathepsin G-like 2;cytotoxic T-lymphocyte proteinase;cytotoxic T-lymphocyte-associated serine esterase 1;cytotoxic serine protease C;cytotoxin serine protease-C;granzyme H APPROVED protein-coding ENSG00000100450 4710 00290 116831 REVIEWED 733991 GYS2 glycogen synthase 2 (liver) The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009] 12 12 12 p12.2 26844519 26913106 - 21580390 21649048 - 21689123 21757781 - 1582633;704404;1600764;1580863;1300048;2304106;1642743;6480464;6907045;7240710 15138155;9691087;12297270;6449198 1731614;18996102;16344560;15489334;12732844;12477932;11752456;8203908;8188280;2169698;20379614;20691427;20800603;20602615;21906983;23426827;21890473;21963094;21988832;22951595;23000965 2998 P54840 ABBA01067971;AC006559;AC010197;AC022072;AJ003087;AJ003088;AJ003089;AJ003090;AJ003091;AJ003092;AJ003093;AJ003094;AJ003095;AJ003096;AJ003097;AJ003098;AJ003099;AJ003100;AJ003101;AJ003102;AK308373;AMYH01004319;AV653197;BC126310;BC126312;CH471094;D29685;DB185936;NG_016167;NM_021957;S70004 AAB30886;AAI26311;AAI26313;ADR83307;BAA06154;CAA05859;EAW96446;EAW96447;NP_068776;P54840 Hs.82614 1331577;1676292;1677036;1704642;1725875;1725983;1726115;1732329;1752009;2109375;2122143 D12S1066;D12S155;D12S1945;G62378;G62379;G62406;GYS2_7800;RH76620;RH79957;SHGC-105992;SHGC-77946 OTTHUMP00000240158;glycogen [starch] synthase, liver;glycogen synthase 2 APPROVED protein-coding ENSG00000111713 4707 00722 138571;240600 REVIEWED 68588 GZMK granzyme K (granzyme 3; tryptase II) This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008] 5 5 q11.2 54355864 54365717 + 54320107 54329960 + 1580863;6480464 19201868;19059912;17438453;17308307;17008916;15489334;12477932;12387726;12384499;8929545;8656064;8039831;7758581;3262682;1460416;20377743;20876349;21666061 3003 P49863 ABBA01015735;AC034238;AK312074;AMYH01015088;BC035802;CH471123;NM_002104;U26174;U35237 AAA74578;AAA79063;AAH35802;ABM85019;ABW03654;BAG35010;EAW54899;NP_002095;P49863 Hs.277937 TRYP2 NK-Tryp-2;NK-tryptase-2;OTTHUMP00000122500;fragmentin-3;granzyme 3;granzyme K (serine protease, granzyme 3; tryptase II);granzyme-3;tryptase II APPROVED protein-coding 4711 02872 600784 REVIEWED 1604474 H1FNT H1 histone family, member N, testis-specific 12 12 12 q13.11 47520294 47521593 + 47009030 47010329 + 48722763 48724062 + 6480464 15710904;16533358;12477932;16055721 341567 Q75WM6 AB121028;ABBA01031479;AC024257;AMYH01004429;AY302593;AY496854;BC118635;BC119787;NM_181788 AAI18636;AAI19788;AAP60022;AAS49492;BAD13382;NP_861453;Q75WM6 Hs.155833 5493193 UniSTS:484656 H1T2 HANP1;OTTHUMP00000242443;haploid germ cell-specific nuclear protein 1;histone H1t2;testis-specific H1 histone protein-coding ENSG00000187166 24893 17084 PROVISIONAL 1347696 H1FOO H1 histone family, member O, oocyte-specific Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The protein encoded is a member of the histone H1 family. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 127688886 127697033 + 130744747 130752894 + 129262057 129270204 + 1580863;6480464 15371275;14729479;14729478;12711322;12477932;12408966;19147139 132243 Q8IZA3 ABBA01059226;AC080007;AMYH01013476;AY158091;BC047943;CH471052;NM_153833 AAH47943;AAN46899;EAW79242;EAW79243;NP_722575;Q8IZA3 Hs.97358 MGC50807;osH1 OTTHUMP00000215766;histone H1oo;oocyte-specific histone H1;oocyte-specific linker histone H1 APPROVED protein-coding ENSG00000178804 18463 13621 REVIEWED 1344003 GZMM granzyme M (lymphocyte met-ase 1) Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 p13.3 495027 500919 + 544034 549920 + 1580863;6480464 20406824;19542453;19103589;18523284;16818775;15494398;15489334;15028722;12506019;12477932;8929545;8245461;21979465;8119738;7713495;19896187;21059895;21857942;20107908;21909423 3004 P51124 ABBA01002568;ABBA01002569;AC011556;AMYH01009189;BC025701;CD366947;CH471242;CR991101;L23134;L36922;L36936;NM_001258351;NM_005317 AAA57257;AAA57262;AAA59582;AAH25701;ADR82740;EAW61189;NP_001245280;NP_005308;P51124 Hs.465511 1656281 RH71363 LMET1;MET1 HU-Met-1;Met-1 serine protease;granzyme M;lymphocyte met-ase 1;met-ase;natural killer cell granular protease APPROVED protein-coding ENSG00000197540 4712 02633 600311 REVIEWED 1348122 GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008] 5 5 q11-q12 54434230 54441818 + 54398474 54406080 + 1580863;5135520;6480464;6484113 20047264 12819770;12524539;11331782;11909973;19343046;19258923;19059912;19014932;18951048;18776661;18485875;18317234;17703412;17308307;17138956;17116752;16440001;15998831;15489334;15342556;15238416;12819769;12721789;12555094;12477932;11555662;9531325;9256474;8288245;7751653;3533635;3263427;3262682;3257574;3237717;3047119;1860869;7912927;15911377;19506301;19875524;20503287;20536382;21068403;21709155;21349256;22476618 3001 P12544 ABBA01015735;ABBA01015736;AC091977;AMYH01015088;BC015739;BP330335;CH471123;CR456968;M18737;NG_027996;NM_006144;U40006 AAA52647;AAD00009;AAH15739;ABM83997;ABM87325;CAG33249;EAW54900;NP_006135;P12544 Hs.90708 1708722;1715203;2072980 REN107686;RH119852;SHGC-81572 CTLA3;HFSP CTL tryptase;Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease);HF;OTTHUMP00000122502;cytotoxic T-lymphocyte proteinase 1;fragmentin-1;granzyme A;granzyme-1;h factor;hanukkah factor APPROVED protein-coding ENSG00000145649 4708 00771 140050 REVIEWED 1604187 H19 H19, imprinted maternally expressed transcript (non-protein coding) This gene expresses a non-coding RNA, and functions as a tumor suppressor. The gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. Expression of this gene and IGF2 are imprinted so that this gene is only expressed from the maternally-inherited chromosome, and IGF2 is only expressed from the paternally-inherited chromosome. A region of paternal-specific methylation upstream of this gene is required for the imprinting of these genes. Mutations in this gene are associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. [provided by RefSeq, Mar 2009] 11 11 p15.5 1972982 1975641 - 2016406 2019065 - 2306171;2306178;2306181;2306185;2306187;2306176;1342455;2306177;2306182;2306169;1642758;2306175;2306179;2306168;2306183;2306180;2306184;2306170;6480464;7240710 18262338;15228427;11436121;9811352;17393425;15618002;15352122;15378645;10690526;18719115;15170812;16434968;11997082;18950807;10521301;11726548;9886562;18708391 12569573;12477932;12439823;12419837;11971967;11889182;11813134;10810089;9716667;2595451;1953776;1688465;19513555;19499149;19342096;19066168;19017756;18709478;18632606;18627058;18604514;18573128;18358696;18245780;18159214;18006818;16708166;16608903;16603642;15885138;15645136;15314640;15158633;14702039;12937131;12682647;12605037;20007505;19570415;21863054;21573965;8385745;17294726;17786216;19711451;19843670;19876907;19950580;19956766;19956846;20042264;20145138;20104244;20554749;20587610;20639793;20418667;20661447;20483645;22646060;20301499;20301568;20861572;21129773;21282187;21420679;22527881;22879348;21458801;21326306;21654730;23227253;23399020;22395465;22959455;20301471;20301534;22679513;23222811;23042795;23153226;23354591;23118352;22776265;22832245;23040914 283120 ABBA01012169;AC051649;AC123789;AF087017;AF091107;AF125183;AK092486;AK123560;AL546946;AL548405;AMYH01003318;BC006831;BC007513;BC009853;BC010185;BC013067;BC015952;BC023213;BC040073;BC040852;BC053636;BC053637;BC063564;BC063626;BC069247;BC098439;BC106078;BC110657;BC115700;M32053;NG_016165;NR_002196 Hs.533566 ASM;ASM1;BWS;D11S813E;LINC00008;MGC4485;NCRNA00008;PRO2605;WT2 APPROVED miscrna ENSG00000130600 4713 103280;130650;180860;194071 REVIEWED 1346656 H2AFB1 H2A histone family, member B1 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Jul 2008] X X X q28 154271936 154272452 + 153766511 153767027 + 154113317 154113833 + 6907045 15257289;11266453;8528212;12477932;21888893 474382 P0C5Y9 ABBA01029146;BC128034;BX842559;CR542230;NG_011403;NM_001017990 AAI28035;CAG47026;NP_001017990;P0C5Y9 Hs.592246 H2A.Bbd H2A Barr body-deficient;OTTHUMP00000032189;histone H2A-Bbd type 1 APPROVED protein-coding ENSG00000198082 22516 18664 REVIEWED 736127 H1F0 H1 histone family, member 0 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H1 family. [provided by RefSeq, Jul 2008] 22 22 q13.1 36531060 36533389 + 38201114 38203443 + 1580863;6480464 18029348;17081983;15489334;15461802;14702039;12477932;12406094;12149419;12080050;10591208;10529182;10471283;10228156;9770363;9582379;8325638;7511470;4595808;3084796;20628624;20098747;16169070;10727426;11463824;12190313;12383116;16985050;19829063;21145461;20211142;21832049;8034666;20618440;18624398;19882353;12466960;12800980;12949733;12970441;17224799;17361108;21907836;19953087;21139048;21906983;22178446;22334665;17361185;15147269 3005 P07305 AA206831;ABBA01055487;ABBA01055488;AK091372;AK312583;AMYH01012757;BC000145;BC029046;BI462123;BX490432;CH471095;CR456502;CR542220;NM_005318;X03473;Z97630 AAH00145;AAH29046;ABM81903;ABM85077;BAG35477;CAA27190;CAG30388;CAG47016;CAK54531;CAK54830;EAW60188;NP_005309;P07305 Hs.226117 1658023;1678303;2110445;2128201;2149861;2185040 G29683;G31469;H1F0__7560;RH17516;RH27824;STS-W90034 H10;H1FV;MGC5241 H1.0, H1(0), H1-0;OTTHUMP00000198160;histone H1';histone H1(0);histone H1.0 APPROVED protein-coding ENSG00000189060 4714 00819 142708 REVIEWED 2303437 H2AFVP1 H2A histone family, member V, pseudogene 1 15 15 15 q26.1 69688638 69689237 - 93276901 93277506 - 93276901 93277506 - 654500 ABBA01053096;AC091544;AMYH01006932;NG_009543 1772645 STS-W72744 H2AFVP;HsT19970 APPROVED pseudo 31026 INFERRED 1354284 H1FX H1 histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H1 family. [provided by RefSeq, Jul 2008] 3 3 q21.3 130516305 130517807 - 129033614 129035120 - 1580863;6480464 12698000;17868027;17632103;17081983;16006241;15635413;15595731;15489334;15302935;12477932;8964515;21145461;19108733;19710015;20211142;20431927;22863883;22939629;22990118;16196087;17620599;22586326;12777385;15848144;18457437;21139048;21890473;21906983;21907836;21628590;22505724 8971 Q92522 ABBA01020935;AC137695;AMYH01013475;AMYH01013476;BC000426;BC010435;CH471052;D64142;NM_006026 AAH00426;AAH10435;BAA11018;EAW79264;NP_006017;Q92522 Hs.75307 1690157;1690948;1788710 RH135825;RH36559;RH80767 H1X;MGC15959;MGC8350 OTTHUMP00000215376;histone H1x APPROVED protein-coding ENSG00000184897 4722 04151 602785 REVIEWED 2303848 H1FX-AS1 H1FX antisense RNA 1 3 3 3 q21.3 127466322 127474620 + 130519507 130525213 + 129035114 129043412 + 16344560;15489334;14702039;12477932;8889548 339942 Q4G0G2 ABBA01020935;AC137695;AL040547;AL353963;AMYH01013476;BC093941;BC101739;BM709882;BU732259;CH471052;DA883170;NR_026991 EAW79263;Q4G0G2 Hs.450096 1690157;1690948;1788710;5015619 D11S3114;RH135825;RH36559;RH80767 C3orf47;FLJ34151;MGC126788 APPROVED miscrna 27953 18785 VALIDATED 1349803 H2AFB2 H2A histone family, member B2 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Jul 2008] X X q28 154263630 154263977 + 154610436 154610783 + 6907045 16287874;15772651;15489334;15257289;12477932;11266453;8528212;22795134 474381 P0C5Z0 AC234781;AF254576;AMYH01023331;BC101409;BC101415;BC101417;BC101418;BC130510;BC130512;BC134365;BX682237;HY000925;NM_001017991 AAI01410;AAI01416;AAI01418;AAI01419;AAI30511;AAI30513;AAI34366;AAL01652;NP_001017991;P0C5Z0 Hs.534498;Hs.632841 H2A.Bbd;H2AFB3 H2A Barr body deficient;H2A Barr body-deficient;OTTHUMP00000032190;histone H2A-Bbd type 2/3 APPROVED protein-coding 18298 18663 REVIEWED 1344236 H2AFB3 H2A histone family, member B3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq, Jul 2008] X X q28 154342274 154342790 - 154689080 154689596 - 6480464;6907045 9566873;16287874;15772651;15489334;15257289;12477932;11266453;8528212;14657027;11689053;11080476 83740 P0C5Z0 ABBA01029092;AF254576;BC101409;BC101415;BC101417;BC101418;BC130510;BC130512;BC134365;BX276110;BX571846;CH471172;NM_080720;X86012 AAI01410;AAI01416;AAI01418;AAI01419;AAI30511;AAI30513;AAI34366;AAL01652;ADR82798;CAA59998;EAW72649;NP_542451;P0C5Z0 Hs.534498;Hs.632841 H2ABBD;H2AFB;H2AFB2 H2A Barr body-deficient;H2A.Bbd;OTTHUMP00000024254;histone H2A-Bbd type 2/3;histone variant H2A, Barr-body deficient APPROVED protein-coding ENSG00000185978 14455 300445 REVIEWED 1343634 H2AFJ H2A histone family, member J Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 20072245 20075911 + 14818537 14822203 + 14927270 14930936 + 1580863;6480464;6907045 16618726;16344560;15900300;14702039;14657027;12477932;11689053;11331621;11080476;9566873;8889548;17207965;21139048;21906983;22145905;22174317;22505724 55766 H0YFX9;Q9BTM1 ABBA01067884;AC010168;AK001765;AK303301;AL133626;AMYH01004303;BC003602;BM689354;BQ438653;BU594879;CH471094;DA808847;DB084616;NM_177925;NR_027716 AAH03602;ADQ32434;BAA91894;BAG64375;EAW96326;EAW96327;NP_808760;Q9BTM1 Hs.524280 1649750;1769512;1797674;2130160;2130920;2140565 A004M21;H2AFJ_1740;RH44875;RH46157;RH47272;STS-H53100 FLJ10903;FLJ52230;H2AJ;MGC921 H2a/j;OTTHUMP00000239324;histone H2A.J APPROVED protein-coding ENSG00000246705 14456 13622 REVIEWED 1347889 H2AFZP1 H2A histone family, member Z pseudogene 1 21 21 21 q22.3 30571487 30572666 - 44290188 44291554 - 45465848 45467027 - 10830953 54049 AB001523;ABBA01074152;AMYH01012287;AP001753;NG_000922;NG_008658;U61521 GT334;H2AFZP APPROVED pseudo 4742 INFERRED 1603841 H2AFZP2 H2A histone family, member Z pseudogene 2 8 8 8 q13.3 67013316 67014179 - 71178107 71179157 - 71015647 71016510 - 346990 ABBA01041938;AC084251;AMYH01018782;NG_005179 1744301;2191631 GDB:451604;MARC_31601-31602:1045759847:1 APPROVED pseudo 32279 INFERRED 3563843 H2AFZP3 H2A histone family, member Z pseudogene 3 13 13 13 q32.3 80711200 80711586 - 98665627 98666013 - 99867626 99868012 - 728023 ABBA01027127;AL160155;AMYH01005326;NG_011430 1744301 GDB:451604 FLJ30001 pseudo 38013 INFERRED 2923058 H2AFZP5 H2A histone family, member Z pseudogene 5 10 10 q22.3 72999845 73000232 + 79713253 79713640 + 100288330 ABBA01020226;AL391421;AMYH01002850;NG_022973 pseudo 38018 INFERRED 1602818 H2BFM H2B histone family, member M X X X q22.2 103725583 103728088 - 103154925 103183677 + 103294516 103297021 + 6907045;6480464 15772651;14702039;16226712;18029348 286436 A9UJN3;P0C1H6 ABBA01032838;AC234782;AI018051;AK093522;AMYH01022803;NM_001164416;Z73497 CAA97844;NP_001157888;P0C1H6 Hs.376474 1341940;1756409;2126851;2137061 AFM191za11;AL023612;L77844;SHGC-143380 H2B/s;OTTHUMP00000196847;OTTHUMP00000196848;histone H2B type F-M;histone H2B.s protein-coding ENSG00000101812 27867 VALIDATED 3077583 H2AFZP4 H2A histone family, member Z pseudogene 4 11 11 67384363 67384745 - 70125021 70125403 - 100462795 ABBA01010305;AMYH01003777;AP002336;NG_021792 pseudo 38015 INFERRED 1347011 H2BFO H2B histone family, member O 6326092 10339 AL591493;K01887;K01888;NG_001226 H2B/o pseudo 4759 1347144 H2AFY2 H2A histone family, member Y2 10 10 10 q22.1 65091467 65151152 + 71482363 71542046 + 71812357 71872040 + 1580863;6480464;6907045 11331621;15621527;15489334;15164054;14702039;14657027;12477932;11689053;11262398;11080476;9566873;16385451;19648962;20080650;21110914;22939629;18029348;21139048;21890473;21906983;21907836 55506 Q5SQT3;Q9P0M6 ABBA01019616;ABBA01019617;AC024601;AF151534;AF336304;AK022475;AK022776;AK131057;AL731540;AMYH01002811;BC016172;BF439798;CH471083;CX752382;NM_018649 AAF72101;AAH16172;AAK52471;ABZ92485;ADZ15661;BAB14049;BAB14239;EAW54372;EAW54373;EAW54374;NP_061119;Q9P0M6 Hs.499953 1341132;1676324;1752661;1761725;1797676;2151330 D10S529;H2AFY2__1195;RH99102;SHGC-106558;SHGC-145698;SHGC-3495 macroH2A2 OTTHUMP00000019735;OTTHUMP00000019736;core histone macro-H2A.2;core histone macroH2A2.2;histone macroH2A2;mH2A2 protein-coding ENSG00000099284 14453 13625 VALIDATED 3051028 H2AFZP6 H2A histone family, member Z pseudogene 6 22 22 15717682 15718067 - 31917188 31917573 - 100462800 ABBA01055336;AL096701;AMYH01012717;NG_022870 1823644;1834858;2006728;2006730;2006732;2006734;2006736;2006738;2006740;2006742;2006744;2006746 ECD12914;ECD18578;REN74280;REN74281;REN74282;REN74283;REN74284;REN74285;REN74286;REN74287;REN74288;REN74289 pseudo 38019 INFERRED 1322551 H2AFV H2A histone family, member V Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p13 44965339 44986571 - 44833013 44854250 - 44866488 44887725 - 6480464;6907045 16916647;16457589;16344560;16341674;15489334;14702039;14657027;12853948;12477932;11689053;11080476;9566873;16712791;18247557;21145461;17573780;21832049;22863883;22939629;18781797;22118674;19471022;21890473;21906983;19322201;21628590;19738201;19805454;20003410;20299344;21139048;21963094;23000965;22505724 94239 C9J0D1;C9J386;E5RJU1;Q71UI9 AACC02000110;AB209001;ABBA01058236;ABBA01058237;AC004854;AF081192;AK023973;AK025785;AK129989;AL049324;AL110212;AL520785;AL520811;AMYH01017216;AMYH01017217;BC000098;BC004274;BC014885;BC070169;BF242439;BG679983;BG754026;BG773256;BI257891;BM452844;BM453663;BM850777;BX644511;CB148943;CH236960;CH471128;DA456475;DB460745;NM_012412;NM_138635;NM_201436;NM_201516;NM_201517 AAC31938;AAH00098;AAH04274;AAH14885;AAH70169;AAS00365;ABM83332;ABM86544;BAD92238;BAG51243;EAW61074;EAW61075;EAW61076;EAW61077;NP_036544;NP_619541;NP_958844;NP_958924;NP_958925;Q71UI9 Hs.488189 1694468;1721047;1756593;1772645;1775044;2117254;2121599;2122922;2131137;2152751;2165116;2171396;5015861;5022200;5022450;7185938 D10S16;D10S275;D7S2026;G42958;G59505;L18426;RH12554;RH18430;SHGC-11327;SHGC-143629;STS-N94473;STS-T71567;STS-W15301;STS-W72744;WI-18233 FLJ26479;H2A.Z-2;H2AV;MGC10170;MGC10831;MGC1947 H2A.F/Z;OTTHUMP00000159512;OTTHUMP00000159513;OTTHUMP00000159514;OTTHUMP00000159536;OTTHUMP00000208719;OTTHUMP00000208720;OTTHUMP00000225453;OTTHUMP00000225454;histone H2A.F/Z;histone H2A.V;purine-rich binding element protein B APPROVED protein-coding ENSG00000105968 20664 13623 REVIEWED 1346464 H2AFX H2A histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Jul 2008] 11 11 q23.3 118469794 118471387 - 118964584 118966177 - 1580863;6480464;6907045 18397884;21463514;19234442;17974976;2587254;10959836;12419185;12556884;19638463;19536649;19513550;19500350;19477424;19401347;19397442;19377486;19377482;19351884;19338747;19273588;19265496;19202324;19180575;19146767;19107196;19092802;19064695;19020308;19005492;18955500;18829552;18727058;18656236;18638378;18622584;18616816;18614045;18536151;18457664;18406329;18328813;18285460;18206537;18001825;17957241;17925396;17904670;17874213;17851762;17709392;17668632;17634426;17594478;17548670;17498979;17372987;17327276;17276133;17227291;17203247;17110439;17106266;17064697;16953663;16927366;16909103;16872365;16820894;16788066;16678501;16628006;16494516;16494514;16426422;16310392;16240122;16153602;16046194;15905198;15816840;15733840;15707990;15655354;15613478;15604234;15574327;15489334;15489221;15485898;15389585;15279782;15201865;15059890;14657027;14627815;14519663;12926989;12915485;12792649;12697768;12689589;12660252;12607005;12551934;12477932;12372432;12220643;12033261;11927591;11893489;11689053;11673449;11571274;11331621;11110662;11080476;10734083;10477747;9566873;9488723;8076949;7929075;7769017;15364958;12447390;12485996;15723802;15064416;16382446;21044950;21566283;21679440;21704408;22170789;22442661;20569192;21068397;21131828;20372780;15149599;16169070;16377563;16820410;19305155;19446503;19651821;19707781;19805520;19859659;19861731;19895790;19903578;19910469;19952118;19996277;20023412;20028875;20046100;20062073;20101220;20118229;20157507;20173316;20224553;20351298;20356835;20360682;20461094;20150765;20488183;16522924;20573551;20921231;20053681;20811699;20051134;16306615;16322227;20823146;20506293;21142613;17145805;19845771;20681785;16932743;19666485;20448412;15870294;18344987;21184737;21124906;21116096;16622419;21182205;23045526;17304220;20460517;20394854;21224359;21199394;20023697;20512932;23413139;20000738;20936109;21566653;21938931;23518201;22787276;21676867;20618440;21622030;21690091;18274552;19850743;21900206;21979596;18781797;21383063;21512825;21631283;21878640;17620599;22064073;22404984;22586326;21139048;21890473;21906983;22154951;22655027;21704409;21840613;21596504;22467212;22730535;19766185;21293379;22184063;23109425;22946062;20075863;20639865;20972266;21505975;21963094;21987572;22053931;23000965;23145133;23306199;23449797;19657269;20089662;20159462;20681793;21623170;21853274;22505724;22972498;22986342;22980979 3014 P16104 ABBA01039679;AMYH01004080;AP003391;BC004915;BC011694;BC013416;CH471065;CR457079;DQ015918;NG_008093;NM_002105;X14850 AAH04915;AAH11694;AAH13416;AAY22178;CAA32968;CAG33360;EAW67451;NP_002096;P16104 Hs.477879 1647307;1670357;1681720;1682017;1768465;1795962;2108035;2122072;2179864;2190815 A004Z11;D11S4378;DPAGT1_8310;G15876;H2AFX;H2AFX_1240;RH70756;RH80367;STS-M95623;STS-R55620 H2A.X;H2A/X;H2AX H2AX histone;OTTHUMP00000232149;histone H2A.x APPROVED protein-coding ENSG00000188486 4739 03465 601772 REVIEWED 731902 H2AFY H2A histone family, member Y Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 q31.1 134697970 134763476 - 134670071 134735577 - 1298632;1580863;6480464;6907045 9653160 15897469;9634239;18247557;9714746;15053874;11331621;18227505;18053270;17570398;17158748;17081983;16428466;16210244;16129414;16107708;15965484;15902274;15621527;15489334;14702039;14657027;12800201;12718888;12477932;12082075;11689053;11080476;11042152;9566873;12419249;12183056;19648962;19680243;20008927;20201926;20379614;21179167;21832049;22939629;23022728;15009096;17322296;21502085;20543561;23031826;16622419;23595991;21844227;22589551;17474147;18781797;20639865;21969577;21110914;22658931;19471022;21139048;21555454;21890473;21906983;21907836;21963094;22194607;22391447;22412018;23372727;17036053;19738201;19805454;23000965;23251661;16713569;22505724;22797925 9555 B4DJC3;D6RCF2;O75367 AB209490;ABBA01068727;AC026691;AF041483;AF044286;AF054174;AK023409;AK023833;AK092944;AK123153;AK296014;AMYH01015628;AY134746;BC013331;BC045570;BC095406;BE262597;CH471062;NM_001040158;NM_004893;NM_138609;NM_138610 AAC33433;AAC33434;AAC39908;AAH13331;AAH95406;AAN08620;ABZ92484;ADZ16104;BAB14565;BAD92727;BAG58785;EAW62218;EAW62219;EAW62220;EAW62221;EAW62222;NP_001035248;NP_004884;NP_613075;NP_613258;O75367 Hs.420272;Hs.599225 1340515;1660881;1685858;1740389;1780636;1795964;1858267;2163868;2163870;2169781;2177095 A002D42;D5S2115;D5S2212E;G19965;H2AFY_976;RH44864;RH46205;RH80062;SHGC-53813;WI-19826;bac51472T H2A.y;H2A/y;H2AF12M;H2AFJ;MACROH2A1.1;mH2A1;macroH2A1.2 OTTHUMP00000159413;OTTHUMP00000223174;OTTHUMP00000223175;OTTHUMP00000223176;core histone macro-H2A.1;histone H2A.y;histone macroH2A1;histone macroH2A1.1;histone macroH2A1.2;medulloblastoma antigen MU-MB-50.205 APPROVED protein-coding ENSG00000113648 4740 13624 610054 REVIEWED 1626136 H3F3AP2 H3 histone, family 3A pseudogene 2 14 14 14 q11.2 3626462 3627716 + 22833660 22834849 + 23763755 23765009 + 664611 ABBA01061318;AL049829;AMYH01005603;NG_006445 H3F3CP APPROVED pseudo 19823 INFERRED 5490854 H3F3AP3 H3 histone, family 3A pseudogene 3 3 q13.13 109127363 109129049 - 21782046 100689229 ABBA01061689;AC092905;AMYH01013386;NG_029983 p18 pseudo 42873 INFERRED 731613 H2AFZ H2A histone family, member Z Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008] 4 4 q24 101088267 101090535 - 100869244 100871512 - 6480464;6907045 19515975;19385636;19261190;18414489;17671089;17636032;17194760;16916647;16809769;16627869;16457589;16319397;15878876;15815621;15489334;14759373;14702039;14657027;12660166;12477932;11835281;11689053;11516949;11380948;11157489;11101893;11080476;11059755;10975868;9566873;8605251;8020992;7880446;7821789;3344202;1697587;18247557;11331621;17137291;19246569;19834540;19856965;20023423;20364108;19666485;20864037;22393239;23064015;16196087;17721549;20857416;21788347;22467210;20473270;23146670;18781797;21139048;21633354;21906983;22493515;16622419;22678762;22863883;15576338;23245330;20003410;20299344;21890473;21963094;23000965;23349794;23398456;23122415;21853274;22505724 3015 P0C0S5 ABBA01063674;AC097460;AF304516;AJ406669;AJ406684;AK056803;AK315413;AMYH01014424;AMYH01014425;AY597416;BC018002;BC020936;BC032524;BC039005;BC103743;CD685635;CH471057;CR457415;D28450;L10138;M37583;NM_002106;X52317 AAA35984;AAC61625;AAG25670;AAH18002;AAH20936;AAI03744;AAY41013;ABM84142;ABM87544;BAA05816;BAG37803;CAA36553;CAC10733;CAC10748;CAG33696;EAX06118;NP_002097;P0C0S5 Hs.119192 1648963;1744301;2191631;2217406;5021724 G33878;GDB:451604;H2AFZ_2801;MARC_31601-31602:1045759847:1;ksks443 H2A.Z-1;H2A.z;H2A/z;H2AZ;MGC117173 H2AZ histone;OTTHUMP00000161678;histone H2A.Z APPROVED protein-coding ENSG00000164032 4741 00823 142763 REVIEWED 5490849 H3F3AP5 H3 histone, family 3A, pseudogene 5 X X p11.22 50665172 50665631 + 50648355 50649368 + 10737800;11181995;21782046 347376 ABBA01060057;AL359914;AMYH01022332;CH471180;NG_029840 EAW89915 p55 pseudo 42981 INFERRED 5490853 H3F3AP6 H3 histone, family 3A, pseudogene 6 4 4 q31.1 140838209 140839248 - 140618780 140619789 - 19666485;21782046 644914 Q6TXQ4 ABBA01069968;AC112236;AMYH01014571;AY383568;NG_022939 AAQ96275 p21 pseudo 42982 INFERRED 1626138 H3F3AP1 H3 histone, family 3A pseudogene 1 15 15 15 q15.1 17006337 17007315 - 38030349 38031327 - 40243057 40244035 - 654505 ABBA01038466;AC012377;AC025168;AMYH01006557;NG_006444 HsT18159 APPROVED pseudo ENSG00000259389 31028 INFERRED 5488988 H3F3BP1 H3 histone, family 3B (H3.3B) pseudogene 1 13 q21.33 72249199 72249603 + 100287087 ABBA01050327;AL138698;AMYH01005197;NG_029804 FLJ10138 pseudo 42030 INFERRED 5490863 H3F3BP2 H3 histone, family 3B (H3.3B) pseudogene 2 17 26743929 26744507 + 100420410 ABBA01015059;AC015917;AMYH01008277;NG_026234 pseudo 42979 INFERRED 1351367 H2BFS H2B histone family, member S (pseudogene) 21 21 21 q22.3 30091648 30092028 + 43809548 43809928 + 44985120 44985498 + 1580863;6480464 16916647;16713563;16627869;16307923;16283522;15489334;15019208;12860195;12757711;12477932;11859126;10830953;8620898;20494980;21906983;21853274 54145 P57053 AB041017;ABBA01074126;AMYH01012279;AP001051;AP001751;BC126339;BC126369;CH471079;NG_006504;NG_011491 BAA95538;BAD74065;EAX09487;P57053 2126683;2220456 UniSTS:482788;UniSTS:494853 APPROVED pseudo 4762 11017 INFERRED 1350519 H4F3 H4 histone, family 3 3023 X60653 4780 1606133 H2BFWT H2B histone family, member W, testis-specific Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Jan 2010] X X X q22.2 103754357 103756894 + 103152376 103154912 - 103265719 103268256 - 6907045 19583817;16449661;15489334;15475252;15237208;12477932;22509975 158983 Q7Z2G1 ABBA01032842;AC234782;AL034485;AMYH01022803;AY283369;AY283370;BC038109;BC118604;BC121816;CH471120;NG_016406;NM_001002916 AAH38109;AAI18605;AAI21817;AAP37489;AAP37490;CAI43100;EAX02765;EAX02766;NP_001002916;Q7Z2G1 Hs.127778 5124158 RH93628 MGC148130;MGC148131 OTTHUMP00000196849;histone H2B type W-T APPROVED protein-coding ENSG00000123569 27252 15956 300507 REVIEWED 1602137 H2BFXP H2B histone family, member X, pseudogene X X X q22.2 103789828 103792112 - 103117158 103119441 + 103230502 103232785 + 11181995 767811 ABBA01032843;AC234782;AL034485;AY730279;CH471120;NR_003238 Hs.496530 pseudo 25757 PROVISIONAL 5490845 H3F3AP4 H3 histone, family 3A, pseudogene 4 2 2 q31.1 175292774 175293832 + 175584528 175585586 + 12477932;3031613;21782046 440926 ABBA01062197;AC018890;AK291102;AMYH01011284;BC066901;BC067757;BC081560;NR_002315 AAH81560;BAF83791 Hs.533624 5020354 WI-6046 FLJ78487;MGC87038;MGC87039;MGC87782;p13 pseudo ENSG00000235655 42980 PROVISIONAL 1317993 H3F3A H3 histone, family 3A Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008] 1 1 q42.12 224317044 224326326 + 226250408 226259703 + 6480464;6907045 17172641;17194708;17189264;17052464;16916647;16710414;16497732;16457588;16341674;16267050;16258499;16185088;15851689;15776021;15684425;15681610;15674325;15664198;15616580;15525939;15498874;15489334;15471871;15345777;14718166;14657027;12909349;12871727;12773393;12560483;12529330;12477932;11856369;11850414;11751582;11689053;11591653;11562345;11278789;11242053;11080476;10911986;10464286;9566873;9441765;9334241;8586426;7821789;7309716;3031613;2859593;15834423;21724829;15669143;19633291;20110566;20211137;20153629;8889548;21047901;21163940;22661320;17403666;15009096;22863883;20651253;20504901;20525793;23539183;22286061;22195966;21880731;21931800;21969370;23079654;16728978;17166833;18070919;22684280;19805454;20639865;20972266;21890473;21906983;21963094;21987572;22623428;23000965;23075851;23142979;23429371;23660862;23603901;23116151;18187620;18760861;20876399;22505724 3020 B2R4P9;B4DEB1;P84243 ABBA01009654;AK293541;AK311905;AL512343;AMYH01001777;BC013857;BC029405;BC038989;BC081561;BC095447;BM760856;CA310975;CH471098;D28384;M11353;M11354;NM_002107;X05855;X05856;X05857 AAA52653;AAA52654;AAH29405;AAH38989;AAH81561;AAH95447;ABM83541;ABM86781;BAA05750;BAG34846;BAG57022;CAA29288;EAW69770;EAW69771;EAW69772;EAW69773;NP_002098;P84243 Hs.533624;Hs.726012 5020354 WI-6046 H3.3A;H3F3;H3F3B;MGC87782;MGC87783 OTTHUMP00000035618;OTTHUMP00000035619;OTTHUMP00000035621;histone H3.3 APPROVED protein-coding ENSG00000163041 4764 03082 601128 REVIEWED 1315252 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008] 1 1 p36 9217450 9253983 + 9294863 9331396 + 1625067;1580863;6480464;6784507;6784513;6907045;7240710 12858176;20923496;19935835 12477932;10497882;7106784;4169027;950237;10349511;19121282;19010388;18963204;18665910;18586838;18029348;17062770;16710414;16091483;16079116;16079115;15827106;15767211;15489334;15280030;14702039;14671302;12831846;20200332;20211231;20228249;20800603;21050867;23125313;22285204;22306327;21858044;21869537;22268729;22632162 9563 O95479;R4GMU1 ABBA01035548;AJ012590;AK024548;AK026460;AK091191;AL832271;AL833024;AMYH01000239;AY409284;BC007368;BC026099;BC044256;BC069028;BC081559;BC098450;CH471130;CR749282;NG_012218;NM_004285;Z98044 AAH81559;CAA10071;CAH18137;EAW71613;NP_004276;O95479 Hs.463511 2184103;5109281 D1S1425;SHGC-74170 CORTRD1;DKFZp686A01246;G6PDH;GDH;MGC87643 6-phosphogluconolactonase;G6PD, H form;GDH/6PGL endoplasmic bifunctional protein;OTTHUMP00000001703;glucose 1- dehydrogenase;glucose dehydrogenase;glucose dehyrogenase;glucose-6-phosphate dehydrogenase, salivary APPROVED protein-coding ENSG00000049239 4795 00681 138090;604931 REVIEWED 731775 HAAO 3-hydroxyanthranilate 3,4-dioxygenase 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008] 2 2 2 p21 42833485 42858995 - 42847734 42873219 - 42994229 43019751 - 1580863;1300048;6480464;6907045 12477932;7514594;12007609;14704851;2967497;19240061;17213182;16189514;15815621;15489334;9291104;8889548;19724865;20211485;20468071;21900206;21044950 23498 C9IY88;P46952 ABBA01075076;ABBA01075077;ABBA01075078;AC098824;AK295693;AMYH01010291;AMYH01010292;BC029510;BI602406;CB850657;CH471053;CR457063;DT215851;NM_012205;Z29481 AAH29510;AAY14701;ABM82094;ABM85276;BAG58544;CAA82618;CAG33344;EAX00309;EAX00310;EAX00311;NP_036337;P46952 Hs.368805 1337364;1660104;2110447;2175823 D17S1192;D2S2259;D2S2613;HAAO_9354 3-HAO;HAO 3-hydroxyanthranilate 3,4-dioxygenase;3-hydroxyanthranilate oxygenase;3-hydroxyanthranilic acid dioxygenase;HAD;OTTHUMP00000201532 APPROVED protein-coding ENSG00000162882 4796 05158 604521 REVIEWED 1350340 HABP2 hyaluronan binding protein 2 The protein encoded by this gene is an extracellular serine protease that binds hyaluronic acid and is involved in cell adhesion. The encoded protein is synthesized as a single chain, but then undergoes an autoproteolytic event to form the functional heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This protease is known to cleave urinary plasminogen activator, coagulation factor VII, and the alpha and beta chains of fibrinogen, but not prothrombin, plasminogen, or the gamma chain of fibrinogen. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 10 10 q25.3 115302775 115339348 + 115310590 115349361 + 1304486;1580863;6480464;7240710 8827452 21600885;14718574;19446554;19105210;18394684;18278202;17540775;17482622;17479202;17145954;17003923;16461761;16332249;16153533;15933067;15654766;15543324;15489334;15486068;15164054;12578864;12477932;12452440;12437095;12386823;12138371;11379758;11217080;9443814;1724753;21098215;22850287;19913121;20532885;20558613;20628086;16385451;20042707;19817990;20818495;20045910;21071862;22421107;22449009;21737124;22116096;23341458;22235940;22409238;21655671;22308306;22383781;20301327;22989567 3026 B7Z8Q5;F5H475;Q14520 ABBA01062992;ABBA01062993;AK290832;AK303759;AK303761;AK303948;AL390197;AMYH01003081;AY534754;BC031412;CH471066;D49742;DC413026;NG_008956;NM_001177660;NM_004132;S83182 AAB46909;AAH31412;AAS16352;ABM81746;ABM84901;BAA08576;BAF83521;BAH14041;BAH14042;BAH14081;EAW49505;NP_001171131;NP_004123;Q14520 Hs.422542 2133331;2155017;2168512;2219114 A007I48;D10S2159;D10S2202;HABP2__6689 FSAP;HABP;HGFAL;PHBP OTTHUMP00000020505;factor VII activating protein;factor VII-activating protease;factor seven-activating protease;hepatocyte growth factor activator-like protein;hyaluronan-binding protein 2;hyaluronic acid binding protein 2;plasma hyaluronan binding protein;plasma hyaluronan-binding protein APPROVED protein-coding ENSG00000148702 4798 04890 188050;603924 REVIEWED 1315131 HABP4 hyaluronan binding protein 4 9 9 q22.3-q31 98252235 98293439 + 99212414 99253618 + 1580863;6480464 16879614;16455055;16169070;15862299;15489334;15164053;15146197;14702039;14699138;12505151;12477932;10887182;9523163;1310832;20551049;14630798;18788774;19523114;6457647;20436279;21771594 22927 Q5JVS0 AA593631;ABBA01043583;ABBA01043584;AF241831;AK000610;AK025144;AK055161;AK091242;AL133477;AMYH01021544;AMYH01021545;BC018788;BI757571;BQ962055;CH471174;CN287447;NM_014282;U77327 AAC31117;AAF62546;AAH18788;BAG51477;BAG52315;EAW92651;EAW92652;EAW92653;NP_055097;Q5JVS0 Hs.494567 1649518;1659741;2153782 A008Z48;D9S1011E;D9S1145 IHABP4;Ki-1/57;MGC825;SERBP1L IHABP-4;OTTHUMP00000021722;chromodomain helicase DNA binding protein 3 interacting protein;intracellular antigen detected by monoclonal antibody Ki-1;intracellular hyaluronan-binding protein 4;ki-1/57 intracellular antigen protein-coding ENSG00000130956 17062 13628 VALIDATED 1605172 H3F3C H3 histone, family 3C 12 12 12 p11.21 11766941 11767997 - 31835386 31836442 - 31944119 31945175 - 6480464;6907045 16541075;15489334;12477932;21110914;21274551;18029348;20972266;21906983;17925393;22505724 440093 Q6NXT2 ABBA01031736;AC023050;AI016942;AMYH01004368;BC066906;CH471116;HQ873957;NM_001013699 AAH66906;ADW85800;EAW88541;NP_001013721;Q6NXT2 Hs.448697 H3.5 OTTHUMP00000212458;histone H3-like;histone H3.3C;histone H3.5;histone variant H3.5 APPROVED protein-coding ENSG00000188375 33164 18443 VALIDATED 733608 H3F3B H3 histone, family 3B (H3.3B) Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is poyadenylated, unlike most histone genes. The protein encoded is a member of the histone H3 family. [provided by RefSeq, Jul 2008] 17 17 q25.1 71284110 71287455 - 73772515 73775860 - 6480464;6907045 16381901;16189514;15489336;14702039;14657027;14527345;12909349;12477932;11751582;11689053;11230166;11080476;11076863;10096020;9731536;9566873;9188772;8889548;8586426;7557364;1748304;11278789;11591653;15616580;15664198;15674325;16728976;9334241;20110566;20504901;18029348;17620599;18760861;22174317;22505724 3021 B2R4P9;K7EK07;K7EMV3;K7EP01;K7ES00;P84243 ABBA01028771;AC087289;AF218029;AK054591;AK130772;AK304607;AK312762;AMYH01008635;BC001124;BC006497;BC012813;BC017558;BC020466;BC108701;BM723811;BX537379;BX647280;CH471099;NM_005324;Z48950 AAG17271;AAH01124;AAH06497;AAH12813;AAH17558;AAI08702;ABZ92486;BAG35628;BAG65392;CAA88778;CAD97621;CAL38070;EAW89317;EAW89318;EAW89319;NP_005315;P84243 Hs.180877 1648417;1689698;1694752;1721549;2147858;2158421 G43578;G59779;RH11839;RH16041;RH47096;RH92474 H3.3B;H3F3A H3 histone, family 3A;histone H3.3 APPROVED protein-coding ENSG00000132475 4765 03036 601058 REVIEWED 3378737 HADHAP2 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 12 12 12 p13.31 10324484 10328446 + 8678063 8682228 + 8786899 8790861 + 399994 ABBA01012245;AC092184;AMYH01004240;NG_005587 1681863;1736272;1744287 D12S1229E;GDB:451574;RH17550 pseudo 38585 INFERRED 1353536 HADHAP1 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 1 4 4 4 q32 163660270 163662967 - 166544587 166547440 - 166324839 166327536 - 7918661;19565490 3031 ABBA01070292;AC012504;AMYH01014673;NG_000863;U04628 AAA69021 1681863;1690740;2138777 RH17550;RH71193;SHGC-34066 HADHAP APPROVED pseudo 4802 INFERRED 1314539 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 6 6 6 q16.3 105798434 105930284 - 105282661 105414487 - 105175968 105307794 - 6480464 18630515;18391951;17903292;17694067;15489334;15254018;14574404;12477932;12421765;10718198;22614015;20546612;19448622;19528486;19965620;22941191;21326284;19350571;21903422;21988917;22036506;22889921;23142381;23412934 57531 E3W983;E5RFX0;E5RHI1;H0YAU8;H0YBH3;H0YC01;H0YC48;Q5VUA0 AB037741;ABBA01014405;ABBA01014406;ABBA01014407;AJ420474;AK131207;AK291760;AK292683;AK294164;AK300314;AK311633;AK316091;AL357315;AL513472;AL590402;AL834202;AMYH01016558;AMYH01016559;BC034982;BC038119;BC041919;CH471051;NM_020771 AAH34982;ABM82661;BAA92558;BAF84449;BAF85372;BAG54751;BAG57487;BAG62066;BAH14462;CAD38890;EAW48437;EAW48438;EAW48439;NP_065822;Q8IYU2 Hs.434340 1682760;1695600;1701264;2120124;2149675;2159157 D6S2180;RH104260;RH36005;RH92023;SHGC-53557;SHGC-68696 E3 ubiquitin-protein ligase HACE1;HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1;HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1;OTTHUMP00000016907;OTTHUMP00000225657 APPROVED protein-coding ENSG00000085382 21033 17086 610876 VALIDATED 1607054 HACL1 2-hydroxyacyl-CoA lyase 1 3 3 3 p25.1 15540467 15581279 - 15577243 15618134 - 15602239 15643130 - 6480464 10468558;16189514;14561759;16344560;15644336;15489334;14702039;12477932;11042152;16756494;22939629;21708296;17370265;21900206;21890473;21906983;21963094 26061 B3KPX4;B4DWI1;B4DXI5;C9J306;C9JJM7;E9PEN4;F8WCH9;Q7Z773;Q9UJ83 ABBA01025138;ABBA01025139;ABBA01025140;AC027129;AF161397;AJ131753;AK056977;AK301546;AK301990;AK302086;AMYH01013002;BC001627;BC007440;CH471055;DA609383;DB049608;NM_012260 AAF28957;AAH01627;AAH07440;ABM86484;ABW03818;BAG51836;BAG63043;BAG63397;BAG63473;CAB60200;EAW64251;EAW64252;EAW64253;NP_036392;Q9UJ83 Hs.63290 1710430 SHGC-82510 2-HPCL;FLJ55041;HPCL;HPCL2;PHYH2 1600020H07Rik;2-hydroxyacyl-CoA lyase 1;2-hydroxyphytanol-CoA lyase;2-hydroxyphytanoyl-CoA lyase;OTTHUMP00000160301;OTTHUMP00000209133;OTTHUMP00000209186;OTTHUMP00000209188;phytanoyl-CoA 2-hydroxylase 2;phytanoyl-CoA hydroxylase 2 protein-coding ENSG00000131373 17856 09183 604300 VALIDATED 736814 HAGH hydroxyacylglutathione hydrolase The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 16 16 p13.3 1799105 1817196 - 1859104 1877195 - 1580863;1300048;6480464;6907045;7240710 11157797;8550579;19413286;18344682;16831876;16803681;15616553;15489334;15117945;12477932;12204678;12012344;11368412;10508780;7585456;7327557;6463589;3663711;3382669;3025077;2164460;1459997;1192606;16289162;20237496;20877624;21832049;21044950;21139048 3029 E7EN93;H3BPK3;H3BPQ4;H3BQW8;H3BV79;Q16775 ABBA01030294;ABBA01030295;ABBA01030296;AC012180;AE006639;AK290155;AK298174;AK299173;AK299993;AK308825;AMYH01007040;AMYH01007041;AY576804;BC000840;BC002627;BG703401;BI758286;BU176541;CH471112;DB502986;DR006636;NG_023249;NM_001040427;NM_005326;X90999 AAH00840;AAH02627;AAK61294;ABM82146;ABM82147;ABM85329;ABW03710;BAF82844;BAG60445;BAG61219;BAG61813;CAA62483;EAW85609;EAW85610;EAW85611;NP_001035517;NP_005317;Q16775 Hs.157394 1652989;1680190;2126182;2141240 RH36497;RH66746;RH78672;RH79938 GLO2;GLX2;GLXII;HAGH1 OTTHUMP00000158839;OTTHUMP00000158840;glx II;glyoxalase II;hydroxyacyl glutathione hydrolase;hydroxyacylglutathione hydrolase, mitochondrial;hydroxyacylglutathione hydroxylase APPROVED protein-coding ENSG00000063854 4805 00731 138760;614033 REVIEWED 1317582 HAGHL hydroxyacylglutathione hydrolase-like 16 16 16 p13.3 977123 979880 + 716959 719716 + 777266 779715 + 6480464;6907045 14702039;12477932;11157797;20237496;17207965;21890473 84264 B4DED4;H3BN70;H3BQ57;H3BR74;H3BT20;H3BU61;I3L1B7;I3L1W0;I3L3H5;Q6PII5 AB209331;ABBA01030352;ABBA01030353;AE006464;AK054841;AK098340;AK293575;AMYH01007003;BC004353;BC015008;BC033796;BC036747;BG338261;BG469685;BI333301;BI818409;CH471112;NM_032304;Z98258 AAH04353;AAH15008;AAH33796;AAK61250;ADQ32666;BAB70814;BAD92568;BAG57045;EAW85725;EAW85726;EAW85727;EAW85728;EAW85729;EAW85730;EAW85731;EAW85732;EAW85733;NP_115680;Q6PII5 Hs.124015 2179214 SHGC-60761 MGC2605 GLO2-like/ RJD12;OTTHUMP00000244017;OTTHUMP00000244018;hydroxyacylglutathione hydrolase-like protein protein-coding ENSG00000103253 14177 17087 VALIDATED 1351201 HADH hydroxyacyl-CoA dehydrogenase This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010] 4 4 q22-q26 109130389 109175780 + 108910870 108956331 + 2302228;2302229;2302232;2306664;2302227;6480464;6484113;6907045 16088331;11481570;7050060;14693719;17491019 8687463;11256614;19318379;17065362;16344560;16176262;15489334;14702039;12477932;11489939;10931422;10840044;10347277;10231530;9716664;8889548;8825408;1835339;975867;21252247;10068455;11451959;20332099;9185222;20562859;20877624;20931292;21347589;18029348;21139048;21890473;21906983;19805454;21988832;19847302;20301549;21832049;22583614;23273570;22505724 3033 E9PF18;J3KR89;Q16836 ABBA01063756;ABBA01063757;AC114733;AC118062;AF001902;AF001903;AF001904;AF026853;AF095703;AI017358;AK096018;AK314444;AMYH01014451;BC000306;BM682975;CH471057;DA825380;NG_008156;NM_001184705;NM_005327;X96752 AAB54008;AAB54009;AAB58153;AAD13581;AAH00306;AAY41050;ABM82345;ABM85519;BAG37053;BAG53198;CAA65528;EAX06218;EAX06219;EAX06220;NP_001171634;NP_005318;Q16836 Hs.438289 1646065;1674970;1696238;1775323;1851474;2142455;2144839;2150546;2156457;2171386;2174257 D4S1008;D4S2516E;D4S2795;RH18323;SHGC-18755;SHGC-18759;SHGC-51987;SHGC-57594;SHGC-59812;SHGC-67734;SHGC-83599 HAD;HADH1;HADHSC;HCDH;HHF4;M/SCHAD;MGC8392;MSCHAD;SCHAD L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain;OTTHUMP00000162625;OTTHUMP00000162626;OTTHUMP00000219688;hydroxyacyl-coenzyme A dehydrogenase, mitochondrial;medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase;short-chain 3-hydroxyacyl-CoA dehydrogenase APPROVED protein-coding ENSG00000138796 4799 601609 REVIEWED 736480 HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] 2 2 p23 26321120 26366837 + 26467616 26513333 + 1600786;1600572;1600779;1600782;1600788;1580863;2317625;6480464;6907045;7240710 11430884;1730633;8651282;8163672;17143551;10816122 1550553;8135828;18063578;17199921;16344560;15815621;15489334;15242332;14702039;14630990;12933794;12754706;12721663;12665801;12477932;9739053;9605857;9259266;8921383;7958339;19699128;20877624;21319273;22375075;20825197;20562859;22939629;21139048;21890473;16196087;17314511;20360068;21900206;22000755;22079093;20305087;19805454;21565611;21988832;22304920;10075708;23398456;23455922;23798571;21549624;23000159;21853274;22190034;22268729;22952844 3032 B4E2W0;B5MD38;C9JE81;C9JEY0;C9K0M0;F5GZQ3;P55084 AB020811;ABBA01045178;ABBA01045179;ABBA01045180;AC010896;AF113209;AK095278;AK130072;AK293142;AK302322;AK304455;AK314455;AMYH01010191;BC014572;BC017564;BC030824;BC066963;CH471053;D16481;D86850;DA067388;DA835045;DB477128;NG_007294;NM_000183;NM_001281512;NM_001281513 AAG39280;AAH14572;AAH17564;AAH30824;AAH66963;AAY14644;ABM83648;ABM86897;BAA03942;BAA22061;BAG37063;BAG56690;BAG63658;BAG65272;EAX00700;EAX00701;EAX00702;NP_000174;NP_001268441;NP_001268442;P55084 Hs.515848 1665208;1665210;1730769;1734778;1773284;1854021 A005T34;D2S1556E;D2S209E;DXS6970E;G20487;RH12545 ECHB;MGC87480;MSTP029;MTPB;TP-BETA 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit;3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit;OTTHUMP00000122456;OTTHUMP00000200808;acetyl-CoA acyltransferase;beta-ketothiolase;hydroxyacyl-Coenzyme A (CoA) dehydrogenase, beta subunit;hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit;mitochondrial trifunctional enzyme, beta subunit;mitochondrial trifunctional protein, beta subunit;trifunctional enzyme subunit beta, mitochondrial APPROVED protein-coding ENSG00000138029 4803 00887 143450;609015 REVIEWED 733877 HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008] 2 2 p23 26267008 26321098 - 26413504 26467594 - 1599882;1599884;1600572;1580863;2317625;6480464;6907045;7240710 7846063;11124150;1730633;10816122 18063578;18676680;18485779;18045290;18031367;17313315;17199921;17143551;17081983;15952740;15489334;15347768;15146197;14630990;12971430;12754706;12477932;12413376;12118083;11978893;10075708;9739053;9605857;9266371;9003853;8921383;8865274;8770876;8163672;7958339;7918661;7811722;7738175;1550553;8135828;20532202;20589231;20814823;18029348;19064571;19170196;19615732;19625176;19692168;19737925;20562859;20736409;20877624;20825197;16055720;22939629;21145461;21319273;22583932;12601813;23106098;23181366;16196087;20186120;21549624;22178446;15161933;19765186;20360068;21081666;22000755;21252943;22471497;22586326;20305087;23152787;22325456;21139048;21890473;21906983;19738201;19805454;21080425;21565611;21963094;21988832;22304920;22746996;22751105;23000965;22190034 3030 B4DYP2;E9KL44;H0YFD6;P40939 AB020811;ABBA01045177;AC010896;AC011742;AI972144;AK293398;AK299258;AK302532;AK313027;AMYH01010191;BC009235;CH471053;CN264228;D16480;FJ626228;GU727642;NG_007121;NM_000182;U04627 AAA56664;AAH09235;AAX93141;AAY14643;ABM83702;ABM87022;ADU87643;BAA03941;BAA76735;BAG35861;BAG56906;BAG61288;BAG63804;EAX00703;EAX00704;NP_000173;P40939 Hs.516032 1338371;1679403;1681863;1700350;1734766;1736272;1744287;2108129;2130262;2132803;2138777;2146739;2154570;2163154 A002C23;D12S1229E;D2S1548E;D2S158;G19975;GDB:451574;HADHA-I16;RH103795;RH1478;RH17550;RH47828;SHGC-31508;SHGC-34066;SHGC-945 ECHA;GBP;HADH;LCEH;LCHAD;MGC1728;MTPA;TP-ALPHA 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit;3-oxoacyl-CoA thiolase;78 kDa gastrin-binding protein;OTTHUMP00000122457;gastrin-binding protein;hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit;hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a hiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit;long-chain 2-enoyl-CoA hydratase;long-chain-3-hydroxyacyl-CoA dehydrogenase;mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit;mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit;mitochondrial trifunctional enzyme, alpha subunit;mitochondrial trifunctional protein, alpha subunit;trifunctional enzyme subunit alpha, mitochondrial APPROVED protein-coding ENSG00000084754 4801 02934 600890;609015;609016 REVIEWED 68517 HAL histidine ammonia-lyase Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 12 12 q22-q24.1 94891273 94914202 - 96366440 96390143 - 1300048;1580863;6480464;6907045;7240710 15806399;18641401;18280705;15741241;15489334;12477932;8530107;7916645;2055114;20237496;21139048 3034 F8VNX0;F8W0V1;H0YHB0;P42357;Q4VB95 AB042217;AB191160;AB191161;AB191162;AB191163;AB191164;AB191165;AB191166;AB191167;ABBA01053319;AC007298;AC126174;AI248003;AK297004;AK298736;AK303544;AL596896;AMYH01004677;BC096096;BC096097;BC096098;BC096099;CH471054;D16626;D43619;NG_008180;NM_001258333;NM_001258334;NM_002108 AAH96096;AAH96097;AAH96098;AAH96099;BAA04047;BAB61863;BAE72109;BAE72110;BAE72111;BAE72112;BAE72113;BAE72114;BAE72115;BAE72116;BAG59540;BAG60883;BAG64570;EAW97554;EAW97555;EAW97556;NP_001245262;NP_001245263;NP_002099;P42357 Hs.190783;Hs.742210 1644367;1663324;1685147;1707536;1715345;1744041;1745865;1746859;1778137;1852160;2172263;2219116 D12S1891;G64828;GDB:384907;GDB:679297;HAL__6690;RH120504;RH44629;RH67993;RH98658;SGC33859;SHGC-84577;STS-R01181 HIS;HSTD OTTHUMP00000243562;OTTHUMP00000243565;histidase;histidine ammonia lyase;histidine ammonia-lyase APPROVED protein-coding ENSG00000084110 4806 07187 235800;609457 REVIEWED 6481100 HAO2-IT1 HAO2 intronic transcript 1 (non-protein coding) 100874270 AL139346 miscrna 41342 736448 HAO3 hydroxyacid oxidase (glycolate oxidase) 3 1300048 51273 731603 HAND2 heart and neural crest derivatives expressed 2 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008] 4 4 q33 174684227 174687953 - 174447652 174451378 - 727442;5132894;6480464 12359233;12955401 9500550;9878849;19348682;19008477;16467358;16280598;15351717;14702039;14636580;14506227;12858532;12477932;11994297;11812799;11076755;10924525;10189962;21431856;20634891;20819618;21241805;21350214;20386744;15486975;21527398;21890473;22323723;22505724 9464 H0YAH1;P61296 ABBA01070377;ABBA01070378;AC093849;AF087940;AF087941;AK122739;AMYH01014720;AMYH01014721;BC101406;BC101974;BC109383;BF313018;CH471056;FJ226608;NM_021973 AAD13185;AAD13186;AAI01407;AAI01975;AAI09384;ACI42790;BAG53697;EAX04749;EAX04750;NP_068808;P61296 Hs.388245 1647591;1851881;2113636;2181107 SHGC-67913;STS-N68754;UniSTS:478956;WI-12683 DHAND2;FLJ16260;Hed;MGC125303;MGC125304;Thing2;bHLHa26;dHand OTTHUMP00000218966;OTTHUMP00000218982;basic helix-loop-helix transcription factor HAND2;class A basic helix-loop-helix protein 26;deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2;dhand protein;heart- and neural crest derivatives-expressed protein 2 APPROVED protein-coding ENSG00000164107 4808 03872 602407 REVIEWED 68454 HAP1 huntingtin-associated protein 1 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.2-q21.3 37132417 37144424 - 39878891 39890898 - 68261;1302538;1580863;1300048;6480464;6907045 7477378;11971876 15383276;9361024;18922795;18192679;17569884;16713569;16344560;16169070;15737634;22731248;14702039;12881483;12021262;10974549;10087300;9798945;9742138;9668110;9599014;9454836;15654337;16712791;19262167;19996106;20512606;21357693;21386698;10629618;21900206;21985783;11133992;22698993;22960999 9001 H7BZC9;H7C0W9;H7C295;P54257 AB209105;ABBA01006453;ABBA01006454;AC109319;AF040723;AJ012824;AJ224877;AK022007;AMYH01008387;CB128405;CH471152;DA203084;DA231862;NG_009090;NM_001079870;NM_001079871;NM_177977;U38371 AAC39861;AAC50297;AAI56729;BAB13952;BAD92342;CAB82785;CAC09418;EAW60757;EAW60758;EAW60759;EAW60760;EAW60761;NP_001073339;NP_001073340;NP_817084;P54257 Hs.158300 1728217;5017227;5024039;5024756;5037552 D16S325;D8S2279;G38154;G63531;RH80030 HAP2;HIP5;HLP;hHLP1 HAP-1;OTTHUMP00000164746;OTTHUMP00000164747;OTTHUMP00000232821;OTTHUMP00000232822;huntingtin-associated protein 1;huntingtin-associated protein 2;neuroan 1 APPROVED protein-coding ENSG00000173805 4812 02972 600947 REVIEWED 737010 HAND1 heart and neural crest derivatives expressed 1 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008] 5 5 q33 153834725 153838017 - 153854532 153857824 - 1580863;727442;6480464 12359233 12477932;11812799;9931445;19060921;18276607;16043483;15509787;15489334;14636580;12858532;11802795;10924525;10837146;10611232;10189962;9337404;8012384;1182795;21350214;21076409;19586923;21519287;20398657;22032825;21561848;22043484;22323723 9421 O96004 ABBA01026238;AC026688;AF061756;AF063012;AMYH01015729;BC021190;CH471062;NM_004821;Z63841 AAD19280;AAD19283;AAH21190;ABZ92217;EAW61636;NP_004812;O96004 Hs.152531 1725993 G62348 Hxt;Thing1;bHLHa27;eHand OTTHUMP00000160696;class A basic helix-loop-helix protein 27;extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1;heart- and neural crest derivatives-expressed protein 1 APPROVED protein-coding ENSG00000113196 4807 03871 602406 REVIEWED 736414 HAMP hepcidin antimicrobial peptide The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Jul 2008] 19 19 q13.1 40465250 40467886 + 35773410 35776046 + 727307;704404;1599358;1580863;6480464;7240710 11113132;12469120 21088809;21095135;21145254;11113131;11034317;19679815;19610021;19589941;19478464;19414861;19292870;19291818;19254567;19252486;19214511;19150361;19070948;19059216;19032104;18970934;18827264;18809758;18775801;18762941;18758412;18694648;18680715;18676162;18671304;18641032;18603562;18556388;18544472;18541040;18495462;18462824;18421430;18333366;18326817;18322945;18278547;18073346;18023212;17962361;17951471;17905609;17905608;17847004;17768112;17766053;17721544;17613866;17559363;17488680;17331161;17229647;17229646;17112858;16962038;16952548;16946298;16937259;16929540;16835372;16769583;16769573;16737972;16460831;16315135;16204153;16103673;15998830;15933050;15831700;15797999;15725899;15685557;15671438;15514116;15489334;15198949;15178582;15124018;15124013;15057824;14702039;14670915;14630809;12975309;12915468;12663437;12637325;12477932;12433676;12393428;12138110;12010514;11836175;18304682;21818622;22249207;21333642;22398782;22611157;17577979;19093740;19231148;19287179;19346972;19387685;19423366;19454498;19483160;19541813;19553669;20007134;21183736;21219868;21143009;21150441;21199652;21209031;19681654;20587610;19652026;19652645;19656379;19711434;19715836;19729219;19734422;19740974;19787796;19850683;19882752;19907144;19924283;20019408;20026331;20113314;20124516;20191031;20102409;22365732;22525500;20937842;20653062;20679527;20800515;20655381;21039223;20620527;19816411;19890342;20299375;20502037;20526394;20660052;20301349;20634490;21031015;20801192;21075282;21126372;21149632;21289291;20721554;21143959;20924211;21285884;21654163;20863724;20888657;22815544;22676252;23041085;19099655;21346250;21283681;21873547;21499082;21593278;21873546;21535154;21609320;21810240;21508121;22023767;21518494;21886780;21876117;22819549;22951294;23065424;23088733;21401300;21733041;21882342;21971825;21885789;22248501;22118000;22125467;22227182;22844726;22228627;23110054;23293962;22682226;22682227;22851866;22932892;22609894;21988832;22792339;23148308;21103663;22768976;23390933;23062413;22869521;23154866;23012398;23179904;23335357;22776295;23380741 57817 P81172 ABBA01018738;ABBA01018739;AD000684;AF131292;AF147355;AF309489;AJ277280;AK096110;AMYH01009726;AY358669;BC020612;DQ496109;NG_011563;NM_021175 AAG23966;AAH20612;AAK14912;AAQ89032;ABF47098;CAC09419;NP_066998;P81172 Hs.8821 5015619;5016596;5020948;5022578;5037552 D11S3114;D1S1423;D8S2279;G35510;GDB:631802 HEPC;HEPCIDIN;HFE2B;LEAP-1;LEAP1;PLTR hepcidin;liver-expressed antimicrobial peptide 1;putative liver tumor regressor APPROVED protein-coding 15598 05925 606464;613313 REVIEWED 7247661 HAND2-AS1 HAND2 antisense RNA 1 (head to head) 6480464 12477932;14702039;18171985;19348682 79804 AB075501;ABBA01070378;AC093849;AK054605;AK123668;AMYH01014721;BC101437;BC101981;BC122524;DQ831955;DQ831956;EF529495;EF529496;EF529497;EF529498;EF529499;EF529500;EF529501;EF529502;EF529503;EF529504;EF529505;EF529506;EF529507;EF529508;EF529509;EU000853;EU000854;EU000855;EU000856;NR_003679 Hs.61435 1647437;1651595;1697242;1699288;2154099;2170959;5014051;5022651 D11S2921;D4S1072;D8S2278;RH102115;RH103227;RH36263;SHGC-59351;STS-R66064 DEIN;NBLA00301 miscrna ENSG00000237125 48872 PROVISIONAL 1346103 HAPP huntingtin-associated protein 1, pseudogene 68261 7477378 8304 P54255 U38372 4815 1353845 HAO1 hydroxyacid oxidase (glycolate oxidase) 1 This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008] 20 20 20 p12 7933209 7990669 - 7811631 7869093 - 7863631 7921093 - 1580863;6480464;6907045 10777549;18215067;17669354;15489334;12477932;11780052;10978532;9891009;14623081;15956068;20054120;20189245;20178365;23263487;21141873 54363 A8K058;Q9UJM8 AB024079;ABBA01053917;AF231916;AF244134;AK289423;AK308963;AK313839;AL021879;AL121739;AMYH01011701;BC113665;BC113667;CH471133;HB890852;HC948261;NM_017545 AAF40199;AAF63219;AAI13666;AAI13668;ADR82966;BAA82872;BAF82112;BAG36571;CAB57329;CBF69668;CBU94371;EAX10379;EAX10380;EAX10381;NP_060015;Q9UJM8 Hs.193640 1658579;1768360;2173769 RH36339;SHGC-33251;WI-16702 GOX;GOX1;HAOX1;MGC142225;MGC142227 (S)-2-hydroxy-acid oxidase;OTTHUMP00000030231;glycolate oxidase;hydroxyacid oxidase 1 APPROVED protein-coding ENSG00000101323 4809 05429 605023 REVIEWED 1601891 HAR1B highly accelerated region 1B (non-protein coding) 20 20 20 q13.33 58404374 58411201 - 61197290 61204116 - 61726845 61733671 - 16915236 768097 ABBA01021381;ABBA01021382;AL096828;AMYH01012070;DQ860410;DQ860411;NR_003245 Hs.635159 HAR1R;LINC00065;NCRNA00065 miscrna 33118 610557 PROVISIONAL 1346012 HAO2 hydroxyacid oxidase 2 (long chain) This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed predominantly in liver and kidney and has the highest activity toward the substrate 2-hydroxypalmitate. Two alternatively spliced variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008] 1 1 1 p13.3-p13.1 118142224 118167573 + 119712925 119738274 + 119911402 119936751 + 1580863;6480464;6907045 10777549;16710414;15489334;12477932;16712791;19692168;20877624 51179 Q5QP00;Q5QP02;Q9NYQ3 ABBA01068514;AF203975;AF231917;AK298289;AL139346;AL359553;AMYH01000978;AMYH01000979;AY513277;BC020863;BG428999;CB121424;CH471122;NG_011967;NM_001005783;NM_016527 AAF14000;AAF40200;AAH20863;AAT08030;ABM86089;ABW03772;BAG60549;EAW56698;EAW56699;NP_001005783;NP_057611;Q9NYQ3 Hs.659767 1697512;2108131;2116272 AL009854;HAO2_8036;RH102259 GIG16;HAOX2 (S)-2-hydroxy-acid oxidase, peroxisomal;OTTHUMP00000014339;OTTHUMP00000014486;cell growth-inhibiting gene 16 protein;glycolate oxidase;growth-inhibiting protein 16;hydroxyacid oxidase 2;long chain alpha-hydroxy acid oxidase;long-chain L-2-hydroxy acid oxidase APPROVED protein-coding ENSG00000116882 4810 05532 605176 REVIEWED 1601892 HAR1A highly accelerated region 1A (non-protein coding) 20 20 20 q13.33 58410173 58413267 + 61203089 61206182 + 61732644 61735737 + 6480464 18054202;16915236;12477932 768096 ABBA01021381;ABBA01021382;ABBA01021383;ABBA01021384;AL096828;AMYH01012070;BC035016;BC047717;DQ860409;NR_003244 Hs.549606 HAR1F;LINC00064;NCRNA00064 miscrna 33117 610556 PROVISIONAL 1348635 HAPLN4 hyaluronan and proteoglycan link protein 4 19 19 19 p13.1 19270520 19277666 - 19227471 19234560 - 19366450 19373596 - 1580863;6480464 14550776;12663660;12477932;11572484;19633295;20950796 404037 Q86UW8 AB107883;ABBA01051321;AC138430;AL389941;AMYH01009607;AY262756;BC142644;BC142698;CH471106;NM_023002 AAI42645;AAI42699;AAP22048;BAC79077;EAW84804;NP_075378;Q86UW8 Hs.367829 1734700;1772247;2219120 D19S696E;HAPLN4__6695;WI-16296 BRAL2;KIAA1926 brain link protein 2;hyaluronan and proteoglycan link protein 4 protein-coding ENSG00000187664 31357 13630 VALIDATED 1317673 HAPLN3 hyaluronan and proteoglycan link protein 3 This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008] 15 15 15 q26.1 65821836 65840086 - 87221523 87239774 - 89420519 89438770 - 1580863;6480464 12975309;15489334;12663660;12477932;17207965;20664984;20950796 145864 H3BRY4;H3BT26;H3BTH8;Q96S86 ABBA01053002;ABBA01053003;AC067805;AC103982;AK292055;AK292103;AMYH01006911;AY037161;AY262759;AY358500;BC053689;BC062320;CH471101;NM_178232 AAH62320;AAK67639;AAP22051;AAQ88864;ADQ32130;BAF84744;BAF84792;EAX02022;EAX02023;EAX02024;NP_839946;Q96S86 Hs.447530 1645051;1672129;1765691;2109377 A007F16;HAPLN3__6694;SHGC-149131;STS-R72651 EXLD1;HsT19883 OTTHUMP00000192919;extracellular link domain containing, 1;hyaluronan and proteoglycan link protein 3 APPROVED protein-coding ENSG00000140511 21446 13629 REVIEWED 1346855 HAPLN1 hyaluronan and proteoglycan link protein 1 5 5 q14.3 82972493 83052454 - 82934017 83016896 - 1580863;6480464 12477932;2286376;19556317;19351750;17903305;15590670;15489334;15456769;14724283;12888576;12663660;12429048;11493848;11038300;11027579;10198161;9712087;7945259;7694569;2738916;2336413;2320422;2030970;1725805;20584105;17207965;20950796;20953637;19834535;20453000;21832049;22589738;21139048;22138694;22159717 1404 D6RAK7;D6RBS1;D6RBX9;D6RC59;D6RFI7;D6RG04;P10915 ABBA01062084;AC020899;AK313713;AMYH01015456;BC057808;CH471084;M63579;NM_001884;U43328;X17405;X78076 AAA85216;AAH57808;ADQ32992;BAG36456;CAA35462;EAW95912;EAW95913;EAW95914;NP_001875;P10915 Hs.2799 1656524;1662823;1679419;1716833;1721295;1741745;1790329;1791756;2114137;2219794;5094342;5094965 B298ZG1;CRTL1;D5S2594;G54722;G59644;GDB:182583;HAPLN1;HAPLN1__6693;PMC123659P2;RH121710;RH92223;STS-N22614 CRTL1 Cartilage link protein;OTTHUMP00000147586;OTTHUMP00000222407;OTTHUMP00000223069;cartilage linking protein 1;cartilage-link protein;cartilage-linking protein 1;hyaluronan and proteoglycan link protein 1;proteoglycan link protein protein-coding ENSG00000145681 2380 00275 115435 VALIDATED 1351001 HAPLN2 hyaluronan and proteoglycan link protein 2 1 1 1 q23.1 129659883 129666327 + 154855710 154862141 + 156589086 156595517 + 1580863;6480464 19034380;15489334;14702039;12663660;12477932;11873941;11817897;11027579;19633295;20950796 60484 Q5T3J0;Q5T3J1;Q9GZV7 AB049054;AB049061;ABBA01016652;AK090712;AK293797;AK294131;AK308805;AK308980;AK310758;AL365181;AMYH01001437;BC029864;CH471121;NM_021817 AAH29864;BAB17662;BAB17669;BAG52217;BAH11597;BAH11680;EAW52933;EAW52934;NP_068589;Q9GZV7 Hs.410719 BRAL1 OTTHUMP00000031987;OTTHUMP00000031988;brain link protein 1;brain link protein-1;hyaluronan and proteoglycan link protein 2 protein-coding ENSG00000132702 17410 17088 VALIDATED 2300354 HAS2-AS1 HAS2 antisense RNA 1 8 8 8 q24.13 118840197 118846175 + 122720767 122726114 + 122651586 122657565 + 15843373;17903294 594842 ABBA01037850;AC104233;AMYH01018998;AMYH01018999;AY941178;BX101304;NR_002835 Hs.668686 HAS2-AS;HAS2AS;HASNT;NCRNA00077 APPROVED miscrna 34340 614353 VALIDATED 1601808 HARBI1 harbinger transposase derived 1 11 11 11 p11.2 46772812 46786910 - 46580987 46595353 - 46624856 46638777 - 6480464 18339812;16341674;15489334;15169610;14702039;12477932;20694011;18029348 283254 E9PK24;E9PQI1;Q96MB7 ABBA01060736;AC127035;AK057237;AMYH01003536;BC036925;BM768489;CH471064;NM_173811 AAH36925;BAB71391;EAW67992;EAW67993;EAW67994;NP_776172;Q96MB7 Hs.714463 1705892;5024756;5037552 D8S2279;RH80030;SHGC-81211 C11orf77;FLJ32675 OTTHUMP00000233318;harbinger transposase-derived nuclease;putative nuclease HARBI1 protein-coding 26522 08728 615086 VALIDATED 1343910 HAS1 hyaluronan synthase 1 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. [provided by RefSeq, Jul 2008] 19 19 q13.4 56908177 56919033 - 52216365 52227221 - 1580863;6480464 17353931;8798544;9169154;19435493;19362966;19148550;18815290;18400745;18199543;17922656;17904513;17611197;16786194;16723203;16564133;16258173;15870928;15794859;15731173;14636845;12720129;12477932;12239172;11790779;10093717;8651928;3099751;19451652;19577615;19737932;20072653;20875124;20960509;22939629;17324121;22529214;21901291;22695958;23303191 3036 G3V1S7;M0QXH4;M0R1L3;M0R2V0;Q8IYH3;Q92839 ABBA01068264;ABBA01068265;AC018755;AM904814;AMYH01009953;AY916554;AY916555;AY916556;BC035837;CH471135;D84424;NM_001523;U59269 AAC50706;AAF87845;AAH35837;AAY52130;AAY52131;AAY52132;ABM82145;ABM85328;BAA12351;CAP17884;EAW72038;EAW72039;NP_001514;Q92839 Hs.57697 1678473 RH68308 HAS HA synthase 1;huHAS1;hyaluronan synthase 1;hyaluronate synthase 1;hyaluronic acid synthase 1 APPROVED protein-coding ENSG00000105509 4818 03271 601463 REVIEWED 5688628 HAUS1P1 HAUS augmin-like complex, subunit 1 pseudogene 1 5 q31.3 139961078 139962126 + 728921 ABBA01026426;AC116353;AMYH01015659;NG_009848 pseudo 43760 INFERRED 5688624 HAUS1P2 HAUS augmin-like complex, subunit 1 pseudogene 2 X p22.13 18883488 18884869 + 441484 ABBA01071698;AL096700;AMYH01022123;NG_009849 1644293;1689412;2139718 A007B02;G09341;RH65844 pseudo 43761 INFERRED 5688632 HAUS1P3 HAUS augmin-like complex, subunit 1 pseudogene 3 8 q13.3 73530746 73531877 - 100271703 ABBA01041959;AC022881;AMYH01018786;NG_009850 pseudo 43762 INFERRED 1350214 HARS histidyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 5 5 q31.3 140033674 140051155 - 140053490 140071312 - 1580863;6480464 22279524;1549469;7755634;17785330;17665459;15489334;14702039;12802020;12477932;12471150;12056811;11829477;8929351;8406012;8125298;8049265;3554142;2996334;2023220;3464104;22939629;22958643;22863883;18029348;21139048;21890473;21906983;20159979;21963094;15604093;17043677;20736164;21110914;22326685;22930593;22797925 3035 B3KWE1;B4DDD8;B4E1C5;C9JWK3;D6RF05;E7ETE2;P12081 ABBA01026422;ABBA01026423;AC116353;AK000498;AK055917;AK124831;AK225776;AK293154;AK293531;AK295219;AK302295;AK303778;AK307669;AMYH01015661;AY995220;BC011807;BC080514;BI259343;CH471062;DC394573;M96646;NG_032158;NM_001258040;NM_001258041;NM_001258042;NM_002109;U18936;X05345;Z11518 AAA58668;AAA73973;AAH11807;AAH80514;AAX99363;ADZ15383;BAG54103;BAG56699;BAG57013;BAG58213;BAG63635;BAG64737;CAA28956;CAA77607;EAW62021;EAW62022;EAW62023;NP_001244969;NP_001244970;NP_001244971;NP_002100;P12081 Hs.528050 1658667;1729009;1732529;1735520;1735580;1775876;1794772;2112204;2128329;5014051;5015619;5037552;5113478 D11S3114;D5S1658E;D5S1691E;D5S2775;D6S939;D8S2278;D8S2279;Hars;PMC55343P6;RH67434;RH70258;SHGC-17214;WI-19187 FLJ20491;HRS;USH3B HisRS;OTTHUMP00000159884;OTTHUMP00000223659;OTTHUMP00000223661;OTTHUMP00000223662;OTTHUMP00000223663;OTTHUMP00000223664;OTTHUMP00000224325;histidine tRNA ligase 1, cytoplasmic;histidine translase;histidine--tRNA ligase;histidine--tRNA ligase, cytoplasmic;histidine-tRNA ligase;histidyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000170445 4816 00827 142810;614504 REVIEWED 1350380 HAS3 hyaluronan synthase 3 The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 16 16 q22.1 67697661 67710123 + 69139467 69152622 + 1580863;6480464 9169154;19435493;19231585;18587729;16786194;16564133;14636845;14566823;12477932;11851874;11790779;11431361;11378333;11278609;9083017;10794710;21429221;19913121;20628086;18821565;16900089;20875124;20507985;20849445;21906983;22695958;23303191 3038 H3BRH5;O00219;Q96RV2 ABBA01025513;ABBA01025514;AC009027;AF232772;AF234839;AK291400;AMYH01007763;AMYH01007764;AW294351;BC021853;CH471092;FJ648810;FJ648811;NM_001199280;NM_005329;NM_138612;U86409 AAC51209;AAF36984;AAH21853;AAK73797;ACN41863;ACN41864;BAF84089;EAW83247;EAW83248;NP_001186209;NP_005320;NP_619515;O00219 Hs.592069 1653462;1657530;1737595;1846922;2148497;2163923;5092832 A006H34;D16S2678;D16S3301;G32357;RH48919;SHGC-60590;SHGC-60824 HA synthase 3;OTTHUMP00000174869;OTTHUMP00000174870;hyaluronan synthase 3;hyaluronate synthase 3;hyaluronic acid synthase 3 APPROVED protein-coding ENSG00000103044 4820 03889 602428 REVIEWED 732743 HAS2 hyaluronan synthase 2 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. [provided by RefSeq, Jul 2008] 8 8 q24.12 122694719 122722811 - 122625271 122653630 - 1580863;6480464 9169154;19435493;19231585;18587729;17872502;17611197;17315194;17307735;16807238;16786194;16687630;16603733;16564133;15922739;15843373;15722343;15677552;15642402;15489334;14988410;14752026;14636845;12477932;11790779;10093717;8798477;19416972;19577615;20072653;20379614;21546767;20522558;20960509;21228273;20875124;21357421;22960332;21795679;17324121;20507985;21551265;21743962;22016393;22529214;22887999;22298898;22113945;22162480;22695958;23452080;23303191;23251661;22742591 3037 Q92819 ABBA01037850;AC022909;AC104233;AK297724;AMYH01018998;AMYH01018999;BC069353;BC109071;BC109072;CH471060;CS279104;CS389034;CS409308;CS410366;NM_005328;U54804 AAC50692;AAH69353;AAI09072;AAI09073;BAG60078;CAJ87378;CAL40919;CAL44783;CAL47700;EAW92010;NP_005319;Q92819 Hs.159226 1336806;1797122;2219122;5122799 D8S1101;HAS2;HAS2__6698;RH47010 MGC126241;MGC126242 HA synthase 2;OTTHUMP00000228014;hyaluronan synthase 2;hyaluronate synthase 2;hyaluronic acid synthase 2 APPROVED protein-coding 4819 07045 601636 REVIEWED 5688629 HAUS4P1 HAUS augmin-like complex, subunit 4 pseudogene 1 1 q24.2 170338059 170339538 - 100129402 ABBA01027944;AL354732;AMYH01001490;NG_013098 1693236;1725051;2178797 AL009668;AL033569;RH118821 pseudo 43763 INFERRED 1352732 HARS2 histidyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 5 5 5 q31.3 136147766 136155638 + 140051202 140059074 + 140071018 140078890 + 1580863;6480464 17081983;8406012;7755634;15489334;12477932;10430027;9445076;1549469;20381070;20877624;21464306;20186120;21906983;22190034;16344560;21890473;21963094;21988832 23438 B4DDY8;B4DQ67;C9JHI8;C9JV49;D6R9M5;D6RB22;D6RJE6;E9PG66;P49590 ABBA01026422;AC116353;AI865702;AK293269;AK293390;AK298661;AK299971;AK309832;AK311277;AK312976;AMYH01015661;BC007680;BC014982;BQ228600;CH471062;DA150729;NG_021415;NM_001278731;NM_001278732;NM_012208;U18936;U18937 AAA73972;AAA73974;AAH07680;AAH14982;ABM83567;ABW03517;BAG35813;BAG56799;BAG56899;BAG60829;BAG61797;EAW62019;EAW62020;NP_001265660;NP_001265661;NP_036340;P49590 Hs.432560 1858092;2140398;2140400 A005U15;D5S2381;G20504 HARSL;HARSR;HO3;PRLTS2 HARS-related;OTTHUMP00000159881;OTTHUMP00000223668;hisRS;histidine tRNA ligase 2, mitochondrial (putative);histidine translase;histidine-tRNA ligase homolog;histidyl-tRNA synthetase 2, mitochondrial (putative);probable histidine--tRNA ligase, mitochondrial;probable histidyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000112855 4817 02871 600783;614926 REVIEWED 1312658 HAUS3 HAUS augmin-like complex, subunit 3 HAUS3 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Nov 2010] 4 4 4 p16.3 2142444 2156208 - 2199894 2213658 - 2230096 2243860 - 737633;6480464 12477932 19427217;14702039;19812674;19369198;18443220;20360068;21139048;21890473;21906983;22797925 79441 B4DF64;D6R993;Q68CZ6 ABBA01029517;AF040964;AK056134;AK293948;AL158068;AMYH01013874;BC003648;BC025356;CH471131;CR749640;NM_024511 AAB97010;AAH03648;AAH25356;BAG57325;CAH18434;EAW82537;NP_078787;Q68CZ6 Hs.665869 1699102;1699668;1850015;2130651;2141370;5022200;5022578;5024039;5037552;5109281;7184652 D16S325;D1S1423;D1S1425;D4S43;D8S2279;L18426;RH103127;RH103438;SHGC-24794;SHGC-50550;SHGC-59813 C4orf15;DKFZp686I1868;IT1;MGC4701;dgt3 HAUS augmin-like complex subunit 3;OTTHUMP00000216558;OTTHUMP00000216559 APPROVED protein-coding ENSG00000214367 28719 10784 613430 PROVISIONAL 5688625 HAUS6P1 HAUS augmin-like complex, subunit 6 pseudogene 1 7 p12.1 53254829 53256634 + 653175 ABBA01011828;AC073318;AMYH01017254;NG_005557 pseudo 43764 INFERRED 1346730 HAUS1 HAUS augmin-like complex, subunit 1 HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 18 18 18 q21.1 40505073 40515227 + 41938323 41962297 + 43684298 43708299 + 737633;1580863;6480464 12477932 19427217;15489334;15232106;15082789;14702039;18443220;19369198;19615732;18029348;20360068;21139048;21890473;21906983;22053931;22505724 115106 K7EJA9;K7EK72;K7EKH4;K7EM54;K7EQT8;K7ES67;Q96CS2 ABBA01022325;AC012569;AK024747;AK097403;AK315605;AMYH01008972;AY360137;BC005958;BC014003;CH471088;NM_138443;NR_026978 AAH05958;AAH14003;AAQ63649;BAC05036;BAG37974;EAX01469;NP_612452;Q96CS2 Hs.436617 1644293;1689412;2150372;2158618 A007B02;RH17845;RH65844;SHGC-35952 CCDC5;FLJ21094;FLJ40084;HEI-C;HEIC;HsT1461 HAUS augmin-like complex subunit 1;OTTHUMP00000163476;coiled-coil domain containing 5 (spindle associated);coiled-coil domain-containing protein 5;enhancer of invasion-cluster APPROVED protein-coding ENSG00000152240 25174 16385 608775 VALIDATED 5688633 HAUS6P2 HAUS augmin-like complex, subunit 6 pseudogene 2 20 q11.21 29929177 29932657 - 100133268 ABBA01019310;AL031650;AMYH01011828;NG_029308 pseudo 43765 INFERRED 5688634 HAUS8P1 HAUS augmin-like complex, subunit 8 pseudogene 1 12 114535457 114536028 + 100420901 ABBA01019969;AC010183;AMYH01004767;NG_024131 pseudo 43766 INFERRED 1321425 HAUS2 HAUS augmin-like complex, subunit 2 HAUS2 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 15 15 15 q15.2 19608717 19629901 + 40628345 40647334 + 42841011 42862192 + 737633;6480464 12477932 14654843;19427217;16344560;15489334;14702039;12434312;16169070;11076968;12221128;12852856;16462731;18443220;19369198;7790358;18029348;20360068;21900206;21139048;21906983 55142 H3BP16;H3BP24;H3BQU2;H3BR32;H3BTG9;J3QT48;Q9NVX0 ABBA01038367;ABBA01038368;AC018362;AI368236;AK001322;AK022939;AMYH01006582;BC010903;CH471125;CS300643;CS300644;DA923763;DB450370;NM_001130447;NM_018097 AAH10903;BAA91623;BAB14319;CAK32307;CAK32308;EAW92566;EAW92567;EAW92568;EAW92569;EAW92570;EAW92571;EAW92572;NP_001123919;NP_060567;Q9NVX0 Hs.14347 1736732;2141496;2170699;2185085;5015861;5015961;5022578;5037552;7185938 D10S16;D15S1477;D15S751;D1S1423;D8S2279;DXS9774;STS-AA031915;STS-AA039304 C15orf25;CEP27;FLJ10460;HsT17025 HAUS augmin-like complex subunit 2;OTTHUMP00000161265;centrosomal protein 27kDa;centrosomal protein of 27 kDa;chromosome 15 open reading frame 25 APPROVED protein-coding ENSG00000137814 25530 07675 613429 VALIDATED 1317198 HAUS5 HAUS augmin-like complex, subunit 5 HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 19 19 19 q13.12 32817103 32829715 + 40795486 40808091 + 36103646 36116251 + 737633;6480464 12477932 19427217;15489334;10048485;18443220;19369198;21890473;21900206;21906983;21987572;22505724;22797925 23354 K7EQ61;O94927 AB020648;ABBA01018749;ABBA01018750;AC002115;AK307703;AMYH01009728;BC013947;BC064390;BC157882;BC171905;NM_015302 AAH13947;AAH64390;AAI57883;AAI60190;BAA74864;NP_056117;O94927 Hs.7426 1698884;5024039 D16S325;RH103009 KIAA0841;dgt5 HAUS augmin-like complex subunit 5 APPROVED protein-coding ENSG00000249115 29130 613432 VALIDATED 6484016 HAVCR1P1 hepatitis A virus cellular receptor 1 pseudogene 1 19 p 24344995 24346249 - 100101266 ABBA01051454;AC073534;AI283084;AMYH01009661;BX114328;NR_003603 Hs.149312;Hs.744477 pseudo ENSG00000268442 44033 PROVISIONAL 6484042 HAVCR1P2 hepatitis A virus cellular receptor 1 pseudogene 2 4 117779252 117780125 + 100421002 ABBA01063863;AC093765;AMYH01014479;NG_025245 pseudo 44035 INFERRED 1313912 HAT1 histone acetyltransferase 1 The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009] 2 2 q31.2-q33.1 172487204 172556846 + 172778935 172848600 + 1580863;2316578;6480464 17182829 9427644;18458078;17081983;17052979;16344560;15815621;15489334;17609381;21145461;12477932;12408818;11585814;11492997;11329013;10911985;12775419;19615732;19862764;17207965;19815555;20562859;14718166;20953179;22863883;22990118;23281010;20224553;20504901;22939629;18029348;22615379;15161933;18781797;19410544;20639865;21987572;20080577;21139048;21890473;21906983;21963094;22228774;21628590;22053931;22190034;22505724;22797925 8520 F8W9G7;F8WEW1;O14929 ABBA01020730;ABBA01020731;ABBA01020732;ABBA01020733;AC015976;AC114745;AF030424;AK127840;AK309001;AK313699;AMYH01011263;AMYH01011264;AMYH01011265;BC018682;BC045673;BC063003;BG184638;CH471058;DB050336;NM_003642;NR_027862 AAC02425;AAH18682;AAH63003;AAX93247;AAY14731;ADQ32532;EAX11194;EAX11195;NP_003633;O14929 Hs.632532 1645818;1650231;1734830;1849564;2190971;2217408;5016478;5017326;5020635 A002M36;D2S1585E;D7S3207;D8S377;GDB:434012;HAT1_3911;MARC_12189-12190:1004712897:1;RH46263;SHGC-36760 KAT1 OTTHUMP00000163124;histone acetyltransferase type B catalytic subunit APPROVED protein-coding ENSG00000128708 4821 04339 603053 REVIEWED 1320176 HAUS6 HAUS augmin-like complex, subunit 6 The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 9 9 9 p22.1 18979336 19029095 - 19043141 19092902 - 19053135 19102940 - 737633;6480464 12477932 19427217;19029337;18443220;16964243;16565220;16381901;15489336;15489334;15164053;14702039;11230166;11076863;10997877;8125298;18029348;19369198;20379614;21832049;20360068;21903422;21139048;21906983;19322201;16344560;22239941;22505724 54801 Q5SYF9;Q5VY60;Q6NZX5 AB046794;ABBA01065219;ABBA01065220;ABBA01065221;ABBA01065222;AF533709;AF537091;AK000067;AK022964;AK023068;AK056458;AK225209;AK301852;AL356000;AL591206;AL832495;AMYH01019269;BC010632;BC026178;BC065935;BC071625;BC111041;BC113981;BC114492;CH471071;DB010660;NM_001270890;NM_017645 AAH10632;AAH26178;AAH65935;AAH71625;AAI11042;AAI13982;AAI14493;AAN05700;AAQ09022;BAA90922;BAB13400;BAB14334;BAB14388;BAG51716;BAG63294;CAL38345;EAW58652;NP_001257819;NP_060115;Q7Z4H7 Hs.533468 1335359;1337814;1646875;1651889;1666362;1668911;1672812;1687500;1703936;1714265;1747769;1758681;1786510;1857010;1857738;2123736;2127111;2143343;2155728;2164844;2171279;5095054;7184002;7186787 D7S1481;D7S1899;D7S1911;D7S2475;D7S622;G17200;G66879;GDB:1317858;GDB:1318146;GDB:1318274;GDB:1318396;GDB:1318722;GDB:6028664;HNRPU;RH119911;RH18125;RH47086;RH92872;SHGC-149156;SHGC-83645;SHGC-84178;WI-7584 Dgt6;FAM29A;MGC102696;MGC138798;MGC138799;RP11-296P7.3 HAUS augmin-like complex subunit 6;OTTHUMP00000021100;OTTHUMP00000021101;dim gamma-tubulin homolog;family with sequence similarity 29, member A APPROVED protein-coding ENSG00000147874 25948 13302 613433 REVIEWED 1604254 HAUS8 HAUS augmin-like complex, subunit 8 HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] 19 19 19 p13.11 17062089 17087860 - 17021571 17047343 - 17160571 17186343 - 6480464 19427217;18362163;12601173;12477932;18443220;19369198;19776357;21832049;21705324;20360068;21139048 93323 M0R1H1;M0R3B3;Q9BT25 ABBA01051179;AC020908;AK295994;AMYH01009568;AMYH01009569;AY211919;BC004398;BC010176;BC040564;BI829542;BM563712;BX111116;CH471106;NM_001011699;NM_033417 AAH04398;AAH10176;AAO65172;BAG58769;EAW84570;EAW84571;NP_001011699;NP_219485;Q9BT25 Hs.404088 DGT4;HICE1;MGC20533;NY-SAR-48 HAUS augmin-like complex subunit 8;HEC1/NDC80 interacting, centrosome associated 1;HEC1/NDC80-interacting centrosome-associated protein 1;Hec1-interacting and centrosome-associated 1;sarcoma antigen NY-SAR-48 APPROVED protein-coding ENSG00000131351 30532 11318 613434 VALIDATED 1313228 HAUS4 HAUS augmin-like complex, subunit 4 This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009] 14 14 14 q11.2 3278327 3289241 - 22485277 22496160 - 23415437 23426351 - 6480464 19427217;15790807;15489334;14702039;12477932;19369198;20360068;21139048;21890473;22505724 54930 G3V2I5;G3V4X7;G3V541;G3V5A5;G3V5Z2;H0YIZ6;H0YJ09;Q9H6D7 ABBA01061295;ABBA01061296;AK000431;AK026016;AK057779;AK097980;AL132780;AMYH01005601;AY927599;BC001916;BC002554;BQ066232;BX247981;BX247995;BX248256;CH471078;NM_001166269;NM_001166270;NM_017815 AAH01916;AAH02554;BAA91161;BAB15322;CAD62315;CAD62328;CAD62584;EAW66206;EAW66207;EAW66208;EAW66209;EAW66210;EAW66211;EAW66212;EAW66213;EAW66214;EAW66215;NP_001159741;NP_001159742;NP_060285;Q9H6D7 Hs.442782;Hs.727321 1677272;1699518;2147783;2147870;2180086;5014051;5015961;5016478;5017266;5020740;5021228;5021872;5022200;5022651;5024413;5037552;5092900 A009C02;D11S2921;D15S1477;D8S2278;D8S2279;G32401;G35356;GDB:312794;GDB:434012;L17809;L17877;L18426;L18506;RH103353;RH69229;RH93779;sY3084 C14orf94;FLJ20424;FLJ40661 HAUS augmin-like complex subunit 4;OTTHUMP00000027923;OTTHUMP00000164554;OTTHUMP00000164555;OTTHUMP00000246049;OTTHUMP00000246050;OTTHUMP00000246051;OTTHUMP00000246073;homologous to Augmin subunits APPROVED protein-coding ENSG00000092036 20163 12663 613431 REVIEWED 1606036 HBAP1 hemoglobin, alpha pseudogene 1 16 16 p13.3 158640 159451 + 218640 219451 + 7407925;7402334;6308667;6297773;6089189;4135409;2831226;2411938;1549498;822353 3041 ABBA01030387;AMYH01006985;J00153;NG_000006;Z84721 1809690;1812580;1832766;2047618;2047620;2047622;2047624;2047626;2047628;2047630;2047632;2047634;2047636;2047638;2047640;2047642;2104458 ECD05837;ECD07300;ECD17524;REN94945;REN94946;REN94947;REN94948;REN94949;REN94950;REN94951;REN94952;REN94953;REN94954;REN94955;REN94956;REN94957;stSG608917 pseudo 4825 VALIDATED 1604614 HAUS7 HAUS augmin-like complex, subunit 7 This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] X X X q28 152946833 152970312 - 152366318 152389283 - 152713123 152760983 - 6480464 9099879;19447967;11163772;19369198;19427217;18029348;16395595;16381901;16344560;15489336;15489334;12477932;11256614;11076863;16189514;22939629;20360068;21906983;11278605;22623531;22053931;22505724 55559 A6NDA1;H7BZF8;Q6ZUX9;Q99871 ABBA01045390;ABBA01045391;ABBA01045392;ABBA01045393;ABBA01045394;ABBA01045395;ABBA01045396;ABBA01045397;AF267739;AK125219;AK296147;AK300650;AK302066;AL122036;AMYH01023290;AMYH01023291;AMYH01023292;AMYH01023293;AMYH01023294;BC008141;BC047613;BC113839;CA441020;CH471172;DA272550;DB248557;NG_012688;NM_017518;NR_073156;U82695 AAF75785;AAH08141;BAC86087;BAG58886;BAG62338;BAG63456;CAB59176;CAL38035;EAW72866;EAW72868;EAW72869;EAW72871;EAW72874;NP_059988;Q99871 Hs.170835;Hs.743822 1702960;2140925;2167932 A002T09;DXS6999E;DXS7074 HSXQ28ORF;UCHL5IP;UIP1 26S proteasome-associated UCH interacting protein 1;26S proteasome-associated UCH37-interacting protein 1;HAUS augmin-like complex subunit 7;OTTHUMP00000025921;UCH37 interacting protein 1;UCHL5 interacting protein;UCHL5-interacting protein;X-linked protein STS1769;expressed-Xq28STS protein APPROVED protein-coding ENSG00000213397 32979 18695 300540 REVIEWED 1352552 HAVCR1 hepatitis A virus cellular receptor 1 The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 q33.2 156389109 156418065 - 156456531 156485970 - 1580863;5128853;5128852;5128851;6480464;7240710;7245479;7245951;7245489;7245498;7244372;7245471;7245497;7245500;7244370;7244373;7244382;7245473;7245495;7245952;7245953;7246890;7246891;7245484;7245950;7245472;7245969;7245970;7245960;7245477;7245980;7245982;7244371;7245478;7245983;7245985;7245470;7245480 15153541;16159638;20628202;23135864;22342673;23085062;22984472;23552495;23335628;22997966;22923545;23683031;23547217;23435265;23307618;23019274;22269876;22257277;20980978;17213874;23085980;22367506;23319831;12388382;12081583;22015481;23220287;16467126;21630304;23673972;23200959;21467131;21279810;23352434;23131280 22495365;22190394;22484054;19494522;19476019;19424017;19264973;19258923;19247692;19173034;19060906;18802347;18769021;18715847;18466531;18453570;18294362;18273441;18165774;18082433;18052965;17703412;17570927;17371991;17229699;17205356;17117951;16940744;16713569;16481347;16344560;15867855;15489334;15300647;15086915;15007635;14637143;14630400;14534576;12893810;12618867;12477932;12138159;11725301;9658108;9557657;22710823;21536871;20571754;20304168;20447817;20233133;19167431;19387469;19480659;19522876;19572801;20070602;20232767;20237496;20331378;20479636;20503287;20549518;20972250;20819195;21339644;21378325;20388397;23267147;22515481;21513984;23220501;21367814;21412435;20686565;21996225;23505323;21402675;22290466;22857392;22080624;22749388;23233528;22709877;23026578 26762 E5RIF6;E9PFX0;Q96D42 AB607987;ABBA01044276;ABBA01044277;AC026777;AF043724;AK298259;AMYH01015743;AW604297;BC013325;CH471062;CR457114;DA378449;DA384612;HQ412639;HQ412640;HQ412641;NG_017001;NM_001099414;NM_001173393;NM_012206 AAC39862;AAH13325;ABM83696;ABM87018;ADZ24772;ADZ24773;ADZ24774;BAG60523;BAJ61033;CAG33395;EAW61615;EAW61616;NP_001092884;NP_001166864;NP_036338;Q96D42 Hs.129711 HAVCR;HAVCR-1;KIM-1;KIM1;TIM;TIM-1;TIM1;TIMD-1;TIMD1 OTTHUMP00000224005;OTTHUMP00000224052;OTTHUMP00000224053;T cell immunoglobin domain and mucin domain protein 1;T-cell membrane protein 1;TIM;TIMD-1;hepatitis A virus cellular receptor 1;kidney injury molecule 1 APPROVED protein-coding ENSG00000113249 17866 09404 147050;606518 REVIEWED 1345937 HBBP1 hemoglobin, beta pseudogene 1 11 11 11 p15.5 5381858 5383492 - 5219658 5221399 - 5263184 5264822 - 6480464 15108284;6098690;2649166;20183929;22943111;23094636;23251661;23263863 3044 ABBA01028649;AC104389;AMYH01003362;N55205;NG_000007;NR_001589;X02133 Hs.20205 1667928;1741159;1741407;1771618;1794450;1810628;1810998;1818878;1829050;1829052;2052524;2052526;2052528;2052530;2052532;2052534;2052536;2052538;2052540;2052542;2052544;2052546;2052548;2052550;2052552;2052554;2052556;2105504;2105506;2105508 ECD06308;ECD06497;ECD10503;ECD15652;ECD15653;GDB:178389;GDB:181105;PMC314215P1;REN97419;REN97420;REN97421;REN97422;REN97423;REN97424;REN97425;REN97426;REN97427;REN97428;REN97429;REN97430;REN97431;REN97432;REN97433;REN97434;REN97435;WI-11766;WI-17827;stSG610837;stSG610838;stSG610839 pseudo 4828 VALIDATED 1313140 HAVCR2 hepatitis A virus cellular receptor 2 The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011] 5 5 q33.3 156445421 156468716 - 156512843 156536248 - 1580863;5128852;5135524;5135525;5135530;6480464;7245954;7245505 16159638;21382414;17517968;21263071;22172823;22472081 17703412;22426209;22539292;19566956;19494522;19414817;19332093;19258923;19104436;19100864;19005181;19001139;18785518;18485114;18401547;18354161;18294362;18052965;18006747;17665973;17430399;17096021;17069754;16940744;16754722;16685421;16456792;16286920;15867855;15603868;15489334;15325803;15153541;14702039;14556006;14556005;12477932;11823861;20656318;21367814;20133006;17207965;21048031;16344560;20819923;21084749;19913121;20574007;20628086;20811886;19395088;19480659;19587053;19676072;19768575;19789190;20083673;20176801;20331378;20503287;20805041;21402546;21832049;22505239;23117395;21392402;22294262;22733499;22968087;23335978;23388728;15342556;22177036;23180819;21637332;21446887;11725301;21621846;22383801;21565238;21807895;23505323;21519864;21989170;22323453;21844165;22387059;21717191;22469568;22363469;22842346;22587604;23359271;22738814;22371007;23029209;22863785;23365080;23555248;23144609;23161469;22875804;23314411;22792231 84868 E5RFR4;E5RHN3;Q8TDQ0 ABBA01044273;ABBA01044274;AC011377;AF251707;AF450242;AF450243;AK027334;AK130144;AK314406;AMYH01015743;AMYH01015744;AY069944;BC020843;BC063431;BP291914;CH471062;CQ834184;JX049979;NG_030444;NM_032782 AAH20843;AAH63431;AAL55401;AAL65157;AAL65158;AAM19100;ADQ32599;AFO66593;BAB55044;BAG37029;CAH05307;EAW61613;EAW61614;NP_116171;Q8TDQ0 Hs.710500 5024761;5109283;5118444 D11S3316;D1S1431;RH36905 FLJ14428;HAVcr-2;KIM-3;TIM3;TIMD-3;TIMD3;Tim-3 HAVcr-2;OTTHUMP00000160742;OTTHUMP00000224056;T cell immunoglobulin mucin 3;T cell immunoglobulin mucin-3;T-cell immunoglobulin and mucin domain-containing protein 3;T-cell membrane protein 3;TIMD-3;hepatitis A virus cellular receptor 2;kidney injury molecule-3 APPROVED protein-coding ENSG00000135077 18437 16227 606652 REVIEWED 737064 HBA2 hemoglobin, alpha 2 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] 16 16 p13.3 162875 163708 + 222846 223709 + 1599361;6480464;6907045;7240710 6490612 21077767;478977;12072504;7518430;8706699;7555018;19479992;19245215;19205971;19048483;18768527;18591626;18026953;17996867;17920577;17916326;17715390;17589844;17587614;17512924;17486499;16847316;16798639;16436049;16418531;16103716;15813858;15768558;15658192;15550245;15481895;15481894;15481888;15481883;15449937;15365991;15128423;15008265;14649319;14649316;14204459;13999302;12779276;12779274;12779273;12779272;12730694;12673836;12665801;12659864;12603095;12603094;12603093;12484636;12484634;12477932;12360531;12192002;12144065;12144061;12122004;11939522;11939521;11836160;11791875;11791870;11570724;11307949;11186269;11186266;11186265;11186260;11154980;10930828;10910890;10870886;10722113;10569726;10569723;10081983;9895333;9886305;9665850;9629496;9441940;9255611;9175734;8980683;8943885;8756078;8635221;8294199;8195006;8195005;8193381;7928378;7615398;7558871;7407925;7402334;7070526;7010180;6994493;6985477;6726807;6671902;6646217;6644819;6547932;6505702;6469697;6452630;6317690;6308667;6297773;6244294;5794113;5639009;5587575;5577460;4944483;4550395;4422784;4212045;4135409;3620699;3597771;3384700;3191134;3177365;2752146;2649166;2606724;2384313;2372512;2265255;2101838;2101836;2079431;1988759;1975428;1726096;1634363;1581238;1549498;1517104;1512262;1487423;1268216;1155453;1115799;1062801;909779;822353;486536;13856;16169070;19657833;19843387;19912309;19958194;19958200;20036801;20054848;20580289;20682466;20642333;20691621;20639625;22563848;19740759;20301608;21222374;17192395;20854119;9830011;22638758;21093326;19794088;21797699;21797701;21821711;21453942;22738435;22943743;21703224;21800051;21967524;22038702;22183073;10390349;21468611;22779921;22391447;22056776;22374170;22924376;23349856;15174051;19738201;21565611;22623428;23094635;23181747;23138098;23123858 3040 D1MGQ2;G3V1N2;P69905 ABBA01030387;AF097635;AF105974;AF147332;AF281258;AF349571;AK223392;AMYH01006986;BC005931;BC008572;BC032122;BC050661;BC101846;BC101848;DQ499017;J00153;NG_000006;NM_000517;V00488;V00489;V00493;V00516;Z84721 AAB59407;AAC72839;AAC97373;AAF90195;AAH05931;AAH08572;AAH32122;AAH50661;AAI01847;AAI01849;AAK37554;ABF56144;ABM82687;ABM84035;BAD97112;CAA23748;CAA23749;CAA23752;CAA23774;CAB06554;NP_000508;P69905 Hs.449630;Hs.654744 1770984;1800742;1811708;1821452;1824800;1838874;2047654;2047656;2047658;2047660;2047678;2047680;2220254;5493409 ECD01232;ECD06858;ECD11810;ECD13499;ECD20616;HBA2;REN94963;REN94964;REN94965;REN94966;REN94975;REN94976;RH71405;UniSTS:486125 HBH OTTHUMP00000066291;alpha globin;alpha-2 globin;alpha-globin;hemoglobin alpha chain;hemoglobin subunit alpha;hemoglobin, alpha 1 APPROVED protein-coding ENSG00000188536 4824 00785 140700;141850;604131;613978 REVIEWED 1607073 HAX1 HCLS1 associated protein X-1 The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q21.3 152511663 152514975 + 154245039 154248351 + 6480464;7240710 20406461;11554782;10760273;9058808;19298594;19254774;18971376;18611981;18513342;18472110;18399350;18337561;18330843;18319618;18055975;17929250;17187068;16971486;16857965;16189514;15489334;15159385;12787133;12477932;16169070;19664597;21145461;20696135;21206270;20220065;21108402;20388708;17207965;19913549;20631090;20065084;15339924;17010949;19524642;19605487;19679660;19680265;19796188;19928538;20171186;20196840;20665473;21109726;21518791;16196087;21567072;21301993;21139048;21890473;21906983;15604093;18457437;20309963;21343306;21415862;21987572;17110338;21963094;21988832;23000965;22451114;23531395;22827267;22939629;17906618;19380743;22505724;22570112;23055567;23164465 10456 E9PIQ7;O00165;Q5VYD6 ABBA01049476;ABBA01049477;AK290626;AK294298;AK300676;AK310000;AK311450;AK313291;AL354980;AMYH01001415;BC005240;BC014314;BC015209;BC016730;BF668367;CH471121;EU190982;EU190983;NG_007369;NM_001018837;NM_006118;U68566 AAB51196;AAH05240;AAH14314;AAH15209;AAH16730;ABW73998;ABW73999;ADQ31612;ADZ15371;BAF83315;BAG57580;BAG62359;EAW53212;NP_001018238;NP_006109;O00165 Hs.199625 1659372;1660718;1660720;1850545;1851248;1852896;2125146;2185429 Cda13d03;D1S3020;RH18226;RH45154;RH67854;RH71253;SHGC-33740;STS-W90414 FLJ17042;FLJ18492;FLJ93803;HCLSBP1;HS1BP1;SCN3 HAX-1;HCLS1 (and PKD2) associated protein;HCLS1-associated protein X-1;HS1 binding protein;HS1-associating protein X-1;HS1-binding protein 1;HSP1BP-1;OTTHUMP00000034190;OTTHUMP00000034191;OTTHUMP00000034192;OTTHUMP00000231810;OTTHUMP00000231812 APPROVED protein-coding ENSG00000143575 16915 12075 605998;610738 REVIEWED 1351471 HBA1 hemoglobin, alpha 1 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] 16 16 p13.3 166679 167520 + 226679 227520 + 1600805;1600800;1600808;1600818;1600802;1600810;6480464;6907045;7240710 10477710;3142772;2833478;10569720;2599879;7786798 18932071;20517157;21883672;22183073;22309488;22324317;22433445;22452989;22403498;22456438;19533865;19390853;19371220;19359777;19341324;19288145;19215610;19189299;19168253;19135755;19119852;19096518;3839774;3839772;3781866;3754246;3754245;3667323;3654264;3623974;3583765;3454663;3384699;3384694;3236367;3026948;2869010;2831226;2752146;2703370;2649166;2634670;2634669;2634665;2606724;2599878;2574721;2500435;2411938;2347082;2283295;2272835;2117321;2108715;2101836;2079432;2079430;1983218;1975428;1802885;1802882;1686260;1671772;1634363;1634357;1634355;1618774;1549498;1512262;1511986;1486044;1428951;1428950;1428941;1259994;1225585;1191675;1182166;1177322;1174563;1164512;1138883;1115799;1115797;949045;949043;902765;901812;893135;893131;893128;852596;849454;822353;750553;740406;701092;701083;640856;640847;640841;604316;508945;478977;478976;478975;270752;234399;108887;31339;16169070;6644819;12646258;7275668;7275663;7275660;7238857;7216818;7213661;7161110;7161109;7068437;7055587;7010180;6946451;6882779;6874377;6874376;6860428;6841125;6815131;6814490;6805217;6783600;6691995;6618889;6548207;6547932;6547117;6526652;6500991;6469697;6469696;6452630;6403040;6317690;6308667;6297773;6244294;6188720;6153381;6089189;6082248;6038433;6034517;6032878;5988206;5972865;5967288;5927878;5913291;5870555;5782754;5782115;5780195;5714528;5696551;5675638;5650416;5639009;5460202;5453914;5436649;5410724;5356548;5129592;5122655;5115619;5085670;5085669;5081617;5033650;4986187;4982774;4971935;4961849;4834679;4824923;4744335;4743350;4719146;4646552;4600474;4550395;4528583;4429803;4429670;4347947;4228361;4212045;4135409;3997545;3973024;3937826;3937825;3935608;3841101;3839776;3839775;18932070;18809301;18772456;18694998;18689979;18667812;18654888;18609043;18582194;18571503;18485513;18458302;18215251;18211634;18166800;17938644;17916326;17724704;17691822;17626702;17512924;17394396;17351274;17191128;17132905;17129226;17070510;17040989;16933182;16898315;16822864;16760505;16728641;16545695;16540409;16466950;16370488;16302974;16123516;16042697;15941417;15921165;15921163;15882059;15824313;15768555;15616553;15495251;15489334;15481890;15365991;15182057;15008266;15008263;15008259;14649316;14649314;14576901;14508795;14236737;14093912;13954546;13872627;13863929;13703277;13500096;13454817;13260359;12779278;12673836;12667291;12665801;12525687;12477932;12200073;12054662;11939522;11939517;11877072;11833853;11791872;11570726;11558897;11499613;11410421;11402454;11304851;11157797;10722119;10722118;10569723;10206681;9665850;9494049;9494044;9322075;9269086;9215129;9054936;8745434;8537233;8537232;8537231;8448109;8294200;8294199;8195005;8195004;8148419;8125298;7811728;7713747;7615398;7558876;7555018;7518430;7470621;7448866;7448125;7402334;7390865;7389895;7380113;7378457;7373648;7358733;7338471;22295973;22531344;19492149;20598923;20308881;18343267;19482015;19535894;19614793;19651813;19657833;19667949;19766903;19774216;19843387;19929282;20080971;20103712;20144437;20171600;20190015;20215002;20398260;20353346;21062041;20682466;20854119;20301608;21139250;20836851;19404566;21075281;19878106;20709501;20832374;22425018;22658796;22805289;22831708;20923991;21747936;21800051;21703224;21623344;21712777;21570686;21717470;21453942;22870185;22738435;21474403;23270560;21797699;21982282;21663496;20674309;21900206;21697890;23168569;21111636;21931690;21840616;21930529;21835487;22135621;23349856;15174051;19738201;21988832;22623428;23289742;22138077;22406180;22374170;22016805;22461535;22924376;23138098;23455922;22552911;22878698;22815750;23274140;23312704;21093939;22769585;23123858;22440250;23398456;23538348;22540250;22985301 3039 D1MGQ2;G3V1N2;P69905 ABBA01030387;AE006462;AF097635;AF105974;AF147332;AF230076;AF281258;AF349571;AF351127;AF363956;AF525460;AF536204;AK223392;AMYH01006986;AY178732;AY178733;AY183122;AY196787;AY261678;AY298911;AY605050;BC005931;BC008572;BC032122;BC050661;BC101846;BC101848;CH471112;DQ011235;DQ431198;DQ499018;J00153;J00157;M22813;M22814;NG_000006;NM_000558;V00491;V00492;V00493;Z84721 AAA52631;AAA52632;AAB59408;AAC72839;AAC97373;AAF72612;AAF90195;AAH05931;AAH08572;AAH32122;AAH50661;AAI01847;AAI01849;AAK15770;AAK37554;AAK50822;AAK61215;AAK61216;AAM83102;AAN04486;AAO22463;AAO22464;AAO24131;AAO42516;AAP44005;AAP56246;AAT36649;AAY30253;ABD95910;ABD95911;ABF56145;ABM85871;ABM87382;BAD97112;CAA23750;CAA23751;CAA23752;CAB06555;EAW85863;NP_000549;P69905 Hs.449630;Hs.654744 1770984;1800742;1811708;1814766;1819724;1824800;1838874;2047654;2047656;2047658;2047660;2047668;2047670;2047672;2047674;2047676;2047678;2047680;2104466;2220254;5493409 ECD01232;ECD06858;ECD08414;ECD10932;ECD13499;ECD20616;HBA2;REN94963;REN94964;REN94965;REN94966;REN94970;REN94971;REN94972;REN94973;REN94974;REN94975;REN94976;RH71405;UniSTS:486125;stSG608924 CD31;HBH;MGC126895;MGC126897 OTTHUMP00000066501;alpha one globin;alpha-1 globin;alpha-1-globin;alpha-globin;hemoglobin alpha 1 globin chain;hemoglobin alpha chain;hemoglobin alpha-1 chain;hemoglobin subunit alpha APPROVED protein-coding ENSG00000206172 4823 00784 140700;141800;604131;613978 REVIEWED 1312957 HBE1 hemoglobin, epsilon 1 The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008] 11 11 p15.5 5246156 5247949 - 5289580 5291373 - 1580863;6480464 15114532;6172865;7555018;19323016;18787944;17548470;17003365;16620781;16514181;16432873;15489334;15449937;15157738;15108284;12659864;12477932;11494285;11304851;11132230;10381533;9665850;9220539;7162987;7151176;6985481;6985477;6985475;6930885;6895866;6714226;6701091;6652684;6457059;6330670;6327288;6324786;6303333;6297279;6292840;6292831;6280057;6272205;6270663;6264391;6254663;6210198;6194897;6194893;6184621;6165992;6155216;6095301;6086605;3879975;3879973;3857622;3455755;3382401;3267215;2933810;2921315;2649166;2581851;2578620;2578619;873928;822353;160554;88735;22563848;18940720;20734064;20822527;20833979;21666788;17192395;20183929;22738610;21986214;20015891;21628590;22260787;23161390;19738201;22623428;23263863 3046 A8MUF7;D9YZU7;P02100 ABBA01028649;AC104389;AMYH01003362;BC015537;CH471064;CR541912;GU324924;M25037;NG_000007;NM_005330;U01317;V00508 AAA16330;AAA35954;AAH15537;ABM85544;ABW03731;ADL14495;CAA23766;CAG46710;EAW68802;NP_005321;P02100 Hs.655195 1682986;1792204;1793040;1793704;1793706;1793708;1793710;1793712;1794490;1794904;1794992;1808248;1808446;1808448;1809840;1843824;2052728;2052730;2052732;2052734;2052736;2052738;2052740;2052742;2052744;2052746;2052748;2052750;2052752;2052754;2052756;2052758;2052760;2105534;2105536;2105538;5127070 D11S2383;ECD05105;ECD05205;ECD05206;ECD05912;ECD23123;PMC139749P4;PMC19271P1;PMC262396P5;PMC262396P6;PMC262396P7;PMC262396P8;PMC262396P9;PMC316536P3;PMC84149P2;PMC86936P3;REN97522;REN97523;REN97524;REN97525;REN97526;REN97527;REN97528;REN97529;REN97530;REN97531;REN97532;REN97533;REN97534;REN97535;REN97536;REN97537;REN97538;RH79666;stSG610852;stSG610853;stSG610854 HBE OTTHUMP00000069642;epsilon globin;epsilon-globin;hemoglobin epsilon chain;hemoglobin subunit epsilon APPROVED protein-coding ENSG00000213931 4830 00788 142100 REVIEWED 1353990 HBD hemoglobin, delta The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008] 11 11 p15.5 5210635 5212434 - 5254059 5255858 - 1580863;6480464;6907045 1787103;7555018;18932068;18615450;18603555;18221842;17145605;16370491;16370490;15921167;15757827;15489334;15449937;15234005;15108284;14478740;14236725;13968954;13892631;12736816;12477932;12402333;11939506;11860449;9101295;8537235;8401543;8364213;8330984;8118467;7713748;7438204;7162987;7151176;7129931;6985481;6985477;6985475;6895866;6714226;6701091;6652684;6629826;6629825;6548205;6469695;6457059;6397774;6330670;6327288;6324786;6311816;6303333;6297279;6292840;6292831;6280057;6272205;6270663;6264391;6210198;6194897;6194893;6184621;6165992;6155216;6095301;6086605;5956309;5909792;5824070;5678016;4995018;4852213;4850239;4625560;3879975;3879973;3857622;3841531;3620470;3455755;3401592;3382401;3267215;2933810;2869009;2649166;2581851;2578620;2578619;2477064;2066116;2018846;1802885;1802883;1742490;1515647;1398286;1309671;1301204;1257702;1148221;952968;873928;822353;728996;680638;88735;22641479;19609526;19657833;17207965;20183929;21194254;21832049;22477537;23263863;23215833 3045 A0N071;C9JRG0;E9PEW8;E9PFT6;P02042 ABBA01028649;AC104389;AF339401;AF339402;AF339403;AF339404;AF339405;AF339406;AF339407;AF339408;AF339409;AF339410;AF339411;AF339412;AF339413;AF339414;AF339415;AF339416;AF339417;AMYH01003362;AY034468;AY695366;BC069307;BC070282;BU664913;CH471064;DQ106871;DQ157442;EF051730;EF051731;EF058046;GU145032;GU145034;GU324923;NG_000007;NM_000519;U01317;V00505;V00506 AAA16333;AAH69307;AAH70282;AAK68847;AAL72102;AAL72103;AAL72104;AAL72105;AAL72106;AAL72107;AAL72108;AAL72109;AAL72110;AAL72111;AAL72112;AAL72113;AAL72114;AAL72115;AAL72116;AAL72117;AAL72118;AAU08171;AAZ16491;AAZ83699;ABK42072;ABK79071;ABK79072;ACZ54506;ACZ54508;ADL14494;ADQ32913;CAA23763;CAA23764;EAW68805;NP_000510;P02042 Hs.699280 1666134;1791544;1791922;1792468;1822976;1824020;1836004;2052440;2052442;2052444;2052446;2052448;2052450;2052452;2052454;2052456;2052458;2052460;2052462;2052464;2052466;2052468;2052470;2052472;2052474;2052476;2156003;2167412;5492541 D11F194S1E;ECD12576;ECD13106;ECD19163;PMC114582P1;PMC133721P1;PMC151694P1;REN97377;REN97378;REN97379;REN97380;REN97381;REN97382;REN97383;REN97384;REN97385;REN97386;REN97387;REN97388;REN97389;REN97390;REN97391;REN97392;REN97393;REN97394;REN97395;RH69634;RH71406;UniSTS:481587 OTTHUMP00000069639;delta globin;delta-globin chain;hemoglobin delta chain;hemoglobin subunit delta APPROVED protein-coding ENSG00000223609 4829 00787 142000 REVIEWED 736606 HBB hemoglobin, beta The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] 11 11 p15.5 5203272 5204877 - 5246696 5248301 - 1600891;1600894;704404;1600888;1600886;1600889;1600890;1600893;1600895;1600892;1600896;6480464;6907045;7240710 4719677;11001883;1272328;1520632;2599881;2239966;6457059;6280057;6304979;10870887 21077758;21077760;18392554;17565724;8718696;1567857;20353347;20353350;20353351;20353353;1512262;11747442;8292032;1540659;7965120;10588683;19556751;19533614;19479992;19474452;19397368;19373586;19373584;19359777;19346882;19333781;19320245;19317913;19288145;19254853;19247486;19245215;19230568;19215610;19205978;19205976;19205975;19205970;19149873;19127788;19066892;19122960;19087310;19065337;19055866;18951049;18932071;18772456;18759082;18752444;18728021;18694524;18667698;18654889;18654885;18603555;18586828;18498386;18473944;18473248;18473247;18473240;18461170;18458302;18443145;18428016;18419131;18414926;18392622;18381244;18369441;18339318;18308336;18294253;18291005;18266765;18257074;18245381;18235968;18096416;18081706;18080800;18071703;18056715;18026953;18022136;17961316;17925082;17920577;17918249;17916326;17894837;17881306;17724704;17720709;17688704;17665502;17654503;17654072;17654071;17612748;18391696;11778661;11741197;11582643;11570721;11499613;11486027;11480785;11300351;11300346;11300344;11186256;11132233;11132230;11111119;11076863;11043018;10954746;10930828;10856700;10791557;10666717;10398311;10233364;9843411;9830011;9761252;9521756;9006104;8980683;8811317;8745430;15956966;15948210;15921164;15885239;15882059;15870261;15858131;15839736;15795925;15795541;15793780;15780970;15767753;15741796;15727901;15727248;15713129;15692663;15658186;15615768;15609277;15607699;15599663;15591902;15565159;15555579;15538648;15528150;15489336;15489334;15482674;15481897;15481886;15481884;15476181;15385559;15327529;15315795;15307413;15256071;15198986;15153712;15147217;15108284;15084587;15073633;15060158;14738432;14722738;14649320;14649318;14649317;14649315;14649314;14645507;14642006;14627823;14587041;14585970;14555305;14529320;13897827;13872627;12955718;12941700;12920025;12908805;17564253;17519411;17516066;17508724;17490901;17486497;17486493;17445142;17394396;17339197;17301974;17196618;17160997;17158930;17140342;17135308;17133428;17096035;17095853;17056066;16990440;16956833;16943425;16916647;16898315;16885058;16877501;16859949;16858401;16855288;16848606;16798637;16722361;16637741;16537808;16508016;16480967;16470532;16466947;16418531;16381901;16356170;16254903;16227618;16199858;16184579;16175509;16156939;16156863;16132905;16103715;16085752;15979088;15973412;12865230;12846902;12799453;12736816;12709369;12709368;12629213;12603091;12581188;12581187;12555809;12477932;12454462;12419253;12394345;12360531;12242335;12217813;12217699;12144064;12144057;12122004;12082507;12054662;12034837;11999355;11997516;11971871;11965279;11939520;11939519;11939518;11939515;11939514;11939513;11939512;11939511;11939510;11939509;11939508;11920200;11909945;11890201;11877258;11869935;11860449;11857746;11843884;11843288;11833853;11827978;11823440;11822023;11812133;11804364;11804203;11800015;11782463;8718692;8642597;8641705;8602627;8522332;8330979;8330974;8330972;8144352;7907422;7693620;7555018;7378053;7373648;7358733;7338469;7338468;7238856;7173395;7162987;7161106;7151176;6985481;6985477;6985475;6895866;6857757;6726807;6714226;6701091;6687721;6652684;6644819;6629824;6629823;6629822;6618888;6587773;6526653;6434492;6330670;6327288;6324786;6303333;6297279;6292840;6272205;6270663;6264391;6254664;6210198;6194897;6292831;6194893;6184621;6166590;6165992;6155216;6095301;6086605;4852224;4850241;4639022;4531009;4129558;4123689;4053691;3937824;3879975;3879973;3857622;3838976;3754244;3744871;3718478;3707969;3691763;3666141;3654265;3623975;3620470;3557994;3455755;3384710;3384709;3384708;3384707;3382401;3267215;2933810;2921315;2649166;2634671;2599880;2581851;2578620;2578619;2513289;2399911;2384314;2101840;2079435;1917539;1917537;1917530;1814856;1787097;1634367;1602151;1517102;1511986;1507231;1487420;1247583;1195378;1177322;1138922;1115799;1019344;992050;893142;891976;873928;826083;822353;728996;721609;668922;635569;429365;271989;88735;68958;67897;11163187;16169070;15910003;15565158;22625666;22734587;22895189;22654577;22273838;21219849;19913121;20552021;20557680;20598923;20628086;20628988;20676097;17637845;19269866;19290524;19372376;19465909;19488752;19503809;19609526;19615732;19618018;19657833;19775947;19843387;19903589;19954365;19958184;19958185;19958186;19958187;19958196;19958198;19958201;20036801;20068219;20080971;20099768;20113286;20113295;20113296;20181291;20193381;20230396;20231425;20305663;20336466;20353593;20395516;9441940;19740759;20830473;20943106;21034280;21068433;21086180;20642332;20406103;20798489;20739079;20938172;20301551;20301599;20524821;20836851;21075280;21075281;21075288;21173165;21194254;21194265;21389146;22939629;22217259;21250885;21378272;18928603;21703224;21800051;21333566;16196087;21232998;21145460;22734501;22738610;22943051;21129264;21523319;21881051;21816820;21828133;21797700;21797702;21797703;21757944;21801233;22075726;10390349;21931690;22028795;22036762;22289203;22565177;21139048;22164220;18465053;21947948;21978377;22117603;22178075;22183073;22216176;22291609;22324317;21319273;22323332;22524255;22563936;22675570;18447585;23349856;23455922;23101664;23085440;23235792;23361909;23398456;22862814;22898041;23272095;23281611;22981786;23043469;23263863;23457306;16027165;22672614;23215760;22260316;1552945;18974585;23089702;22705794 3043 D9YZU5;F8W6P5;Q549N7 A01592;ABBA01028649;AC104389;AF007546;AF059180;AF083883;AF104901;AF105973;AF117710;AF181832;AF181989;AF186606;AF186607;AF186608;AF186609;AF186610;AF186611;AF186612;AF186613;AF186614;AF186615;AF186616;AF186617;AF186618;AF186619;AF186620;AF305829;AF319479;AF348448;AF349114;AF527577;AF540397;AJ871593;AJ877913;AK311825;AMYH01003362;AY013299;AY013301;AY013302;AY027509;AY027800;AY136510;AY136511;AY163866;AY260740;AY261679;AY264346;AY310318;AY341055;AY341056;AY356351;AY509193;AY605051;AY605052;AY738615;AY744274;AY998983;BC007075;CH471064;CR536530;CR541913;DQ026227;DQ029041;DQ074764;DQ118155;DQ126270;DQ126271;DQ126272;DQ126273;DQ126274;DQ126275;DQ126276;DQ126277;DQ126278;DQ126279;DQ126280;DQ126281;DQ126282;DQ126283;DQ126284;DQ126285;DQ126286;DQ126287;DQ126288;DQ126289;DQ126290;DQ126291;DQ126292;DQ126293;DQ126294;DQ126295;DQ126296;DQ126297;DQ126298;DQ126299;DQ126300;DQ126301;DQ126302;DQ126303;DQ126304;DQ126305;DQ126306;DQ126307;DQ126308;DQ126309;DQ126310;DQ126311;DQ126312;DQ126313;DQ126314;DQ126315;DQ126316;DQ126317;DQ126318;DQ126319;DQ126320;DQ126321;DQ126322;DQ126323;DQ126324;DQ126325;DQ150585;DQ192018;DQ659148;EF450778;EU694432;EU760912;EU760913;EU760915;EU760916;EU760918;EU760919;EU760920;EU760922;EU760923;EU760924;EU760925;EU760926;EU760928;EU760929;EU760930;EU760931;EU760932;EU760933;EU760935;EU760936;EU760940;EU760941;EU760942;EU760943;EU760944;EU760945;EU760946;EU760947;EU760948;EU760949;EU760952;EU760954;EU760955;EU760957;EU760958;EU760960;GN041478;GN045279;GN367221;GU324922;K01899;L26462;L26463;L26464;L26465;L26466;L26467;L26468;L26469;L26470;L26471;L26472;L26473;L26474;L26475;L26476;L26477;L26478;L48213;L48214;L48215;L48216;L48217;L48220;L48931;L48932;M11428;M25079;M25113;M25660;M34059;M36640;NG_000007;NM_000518;S82767;U01317;U20223;V00497;V00498;V00499;V00500 AAA16334;AAA16335;AAA21100;AAA21101;AAA21102;AAA21103;AAA21104;AAA21105;AAA21106;AAA21107;AAA21108;AAA21109;AAA21110;AAA21111;AAA21112;AAA21113;AAA21114;AAA21115;AAA21116;AAA35597;AAA35952;AAA35966;AAA52633;AAA52634;AAA52635;AAA53153;AAA88054;AAA88057;AAA88059;AAA88061;AAA88063;AAA88065;AAA88067;AAA99224;AAB60348;AAB62944;AAC97372;AAC97959;AAD14420;AAD19696;AAD30656;AAF00488;AAF00489;AAF08258;AAF08259;AAF08260;AAF08261;AAF08262;AAF08263;AAF08264;AAF08265;AAF08266;AAF08267;AAF08268;AAF08269;AAF08270;AAF08271;AAF08272;AAG28779;AAG46182;AAG46184;AAG46185;AAH07075;AAK15811;AAK20080;AAK28066;AAK29639;AAK30154;AAL68978;AAM92001;AAN11320;AAN11321;AAN16468;AAN84548;AAP03091;AAP21062;AAP44006;AAP74754;AAQ24847;AAQ24848;AAQ63175;AAR96398;AAT36650;AAT36651;AAU85261;AAW66689;AAY15222;AAY46275;AAY51976;AAY84735;AAZ30391;AAZ39745;AAZ39746;AAZ39747;AAZ39748;AAZ39749;AAZ39750;AAZ39751;AAZ39752;AAZ39753;AAZ39754;AAZ39755;AAZ39756;AAZ39757;AAZ39758;AAZ39759;AAZ39760;AAZ39761;AAZ39762;AAZ39763;AAZ39764;AAZ39765;AAZ39766;AAZ39767;AAZ39768;AAZ39769;AAZ39770;AAZ39771;AAZ39772;AAZ39773;AAZ39774;AAZ39775;AAZ39776;AAZ39777;AAZ39778;AAZ39779;AAZ39780;AAZ39781;AAZ39782;AAZ39783;AAZ39784;AAZ39785;AAZ39786;AAZ39787;AAZ39788;AAZ39789;AAZ39790;AAZ39791;AAZ39792;AAZ39793;AAZ39794;AAZ39795;AAZ39796;AAZ39797;AAZ39798;AAZ39799;AAZ39800;AAZ81986;ABA19233;ABG47031;ABM84085;ABM87452;ABO36678;ABW03575;ACD39349;ACF16747;ACF16748;ACF16750;ACF16751;ACF16753;ACF16754;ACF16755;ACF16757;ACF16758;ACF16759;ACF16760;ACF16761;ACF16763;ACF16764;ACF16765;ACF16766;ACF16767;ACF16768;ACF16770;ACF16771;ACF16775;ACF16776;ACF16777;ACF16778;ACF16779;ACF16780;ACF16781;ACF16782;ACF16783;ACF16784;ACF16787;ACF16789;ACF16790;ACF16792;ACF16793;ACF16795;ADL14493;BAG34767;CAA00182;CAA23756;CAA23757;CAA23758;CAA23759;CAG38767;CAG46711;CAI40296;CAI47563;CAL37415;CAL38229;CAX48890;CAX48956;CAY85982;EAW68806;NP_000509;P68871 Hs.523443 1731969;1740969;1741031;1741079;1741083;1741223;1741633;1742421;1743121;1745285;1745715;1791304;1791314;1791336;1791438;1791450;1791454;1791500;1791514;1791544;1791582;1791700;1791810;1791922;1791934;1791964;1792208;1792374;1792380;1792554;1793662;1793982;1794494;1794952;1794954;1794956;1794958;1794994;1795014;1795020;1795032;1795142;1803314;1806516;1809252;1830572;1847705;2052374;2052376;2052378;2052380;2052382;2052384;2052386;2052388;2052390;2052392;2052394;2052396;2052398;2052400;2052402;2052404;2052406;2052456;2105482;2105484;2142128;2156003;2167412;2190817;5094830 D11F194S1E;D11S1382;ECD02553;ECD04215;ECD05616;ECD16422;GDB:177071;GDB:177422;GDB:177671;GDB:177704;GDB:178694;GDB:181599;GDB:196974;GDB:269987;GDB:599270;GDB:632696;HBB;Hbb-b1;PMC102046P2;PMC102168P1;PMC104188P1;PMC110379P1;PMC110716P1;PMC110756P1;PMC111966P1;PMC113011P1;PMC114582P1;PMC115301P1;PMC120089P1;PMC126094P1;PMC133721P1;PMC133732P7;PMC133948P1;PMC139788P3;PMC149569P1;PMC150227P2;PMC153763P1;PMC24545P1;PMC310725P2;PMC316536P5;PMC86017P3;PMC86017P4;PMC86017P6;PMC86017P7;PMC86936P4;PMC87307P1;PMC87731P1;PMC88635P1;PMC99844P2;REN97344;REN97345;REN97346;REN97347;REN97348;REN97349;REN97350;REN97351;REN97352;REN97353;REN97354;REN97355;REN97356;REN97357;REN97358;REN97359;REN97360;REN97385;RH41842;RH69634;STS-L48931;stSG610823;stSG610824 CD113t-C;beta-globin OTTHUMP00000069644;beta globin chain;hemoglobin beta chain;hemoglobin beta chain complex;hemoglobin subunit beta 2314986 INSUL33_H APPROVED protein-coding ENSG00000244734 4827 00786 140700;141749;141900;603902;603903;611162;613985 REVIEWED 1348198 HBM hemoglobin, mu The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 419287 420082 + 155973 156767 + 215973 216767 + 6480464 15855277;12477932;3952001;2825132;2649166;19199228 3042 Q6B0K9 ABBA01030387;AMYH01006985;AY698022;BC035682;BC067870;DQ431198;NG_000006;NM_001003938;X03583;Z84721 AAH35682;AAT92513;ABD95909;NP_001003938;Q6B0K9 Hs.647389 1804776;1805588;1818654;1822972;1828316;2047604;2047606;2047608;2047610;2047612;2047614;2047616;2047618;2047620;2104454 ECD03321;ECD03744;ECD10391;ECD12574;ECD15283;REN94938;REN94939;REN94940;REN94941;REN94942;REN94943;REN94944;REN94945;REN94946;stSG608915 HBAP2 OTTHUMP00000066292;alpha globin pseudogene 2;hemoglobin mu chain;hemoglobin subunit mu;hemoglobin, alpha pseudogene 2;mu-globin APPROVED protein-coding ENSG00000206177 4826 13633 609639 REVIEWED 1605733 HBEGF heparin-binding EGF-like growth factor 5 5 q23 139692612 139706358 - 139712428 139726188 - 2317963;1581908;6480464;6484113;6907045 15982853;15486316 16837648;11846885;18852147;18725202;18691754;18686008;18463770;18093224;17962208;17960400;17928891;17855771;17717322;17668298;17654528;17637826;17548351;17525275;17472728;17392284;17001310;16996055;16923819;18925469;16901467;10749879;8300582;8347598;1840698;15289334;15389565;19127210;19064678;18929421;16687414;16557002;16470170;16407398;16034135;15988409;15979989;15827558;15755902;15562026;15509542;15489334;15372022;15331606;15274392;15219838;15169883;15062539;14764442;14738873;14634113;14597771;14573593;12958167;12952982;12882762;12835543;12768307;12725245;12612909;12568494;12477932;12466384;12230876;12163414;12149405;12112577;12099696;12095415;11983897;11943653;11922634;11920609;22402363;22319602;7532176;3436221;1939101;1577791;1556128;11825873;11769972;11761337;11735113;11432822;11340068;11125426;10576204;9659904;9135143;8125298;8060360;8051092;7836353;7590736;19913121;20586269;20628086;20130271;12743035;17655843;19218109;19389413;19559571;19609315;19671876;19682489;19919524;19996587;20131286;20424473;8194524;19961362;20946474;20351696;20332144;20739660;20889674;20856931;12070119;21413023;22718294;22646534;21788507;21386996;21640162;22009535;22291012;20847549;19337254;22110740;22209887;22136955;23589494;23349913;23277101;22592159 1839 Q99075;Q9UMJ6 ABBA01026434;AC004634;AK222688;AK307310;AK313202;AMYH01015656;AY164533;BC033097;CH471062;D55114;GM880654;L17030;L17031;M60278;NM_001945 AAA35956;AAA50563;AAA50564;AAC15470;AAH33097;AAN46738;ACE87056;ACE87738;BAD96408;BAG36018;CAV28318;EAW62069;NP_001936;Q99075 Hs.592942;Hs.799 1669703;1683100;1772563;1795706;2154640;2158676 D5S2374;DTR_582;G10624;RH65265;RH93352;STS-M60278 DTR;DTS;DTSF;HEGFL OTTHUMP00000159876;OTTHUMP00000223860;diphtheria toxin receptor (heparin-binding EGF-like growth factor);diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor);heparin-binding epidermal growth factor;proheparin-binding EGF-like growth factor protein-coding ENSG00000113070 3059 00526 126150 VALIDATED 1353128 HBZP1 hemoglobin, zeta pseudogene 1 16 16 p13.3 153121 155155 + 213066 215204 + 6745241;6308667;6297773;2825132;2649166 3051 AMYH01006984;AMYH01006985;J00184;NG_000006;Z84721 1804776;1805588;1813388;1828316;1837456;2047586;2047588;2047590;2047592;2047594;2047596;2047598;2047600;2047602;2047604;2047606 ECD03321;ECD03744;ECD07715;ECD15283;ECD19895;REN94927;REN94928;REN94929;REN94930;REN94931;REN94932;REN94933;REN94934;REN94935;REN94938;REN94939 HBZP APPROVED pseudo 4836 VALIDATED 1345458 HBG1 hemoglobin, gamma A The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] 11 11 p15.5 5226078 5227663 - 5269502 5271087 - 1600575;6480464 3033668 16631597;2419280;17353931;19220418;18718799;18615450;18347053;18096417;17976188;17916326;17612629;17212360;16849648;15831451;15666429;15613485;15489334;15108284;14649320;14645237;12488461;12477932;12393583;12393499;12093744;11960008;11514664;11172039;9703422;8566966;8194849;7928382;7555018;7438203;7332928;7162987;7151176;6985481;6985477;6985475;6895866;6714226;6701091;6652684;6457059;6330670;6327288;6324786;6303333;6297279;6292840;6292831;6280057;6272205;6270663;6264391;6210198;6199326;6198905;6197997;6194897;6194893;6188719;6186637;6184621;6183236;6175602;6165992;6163752;6155216;6095301;6091051;6086605;6038320;6019034;5554303;5491586;4765089;4676910;4455303;3879975;3879973;3857622;3455755;3382401;3377986;3267215;3181130;2933810;2649166;2581920;2581851;2578620;2578619;2469505;2467893;2454900;2452784;2448269;2448268;2442092;2441598;2423160;2420697;2417989;2417646;2413469;2412617;2411679;2224140;1802881;1714434;1704803;1703137;1698280;1487421;1379347;1374633;1342932;1283810;1138921;881729;873928;822353;808940;318163;291015;88735;20676097;20183929;19327156;19712585;19958188;19958189;20439494;20602015;22273484;21144779;21832049;19861270;20584642;22010104;22469229;19738201;22623428;23071749;22739173;23263863;22825848 3047 D9YZU8;P69891 ABBA01028649;AC104389;AF487523;AMYH01003362;AY534688;BC010913;BC010914;BC020719;CH471064;GU324925;J00176;M32249;M32724;M91036;M91037;NG_000007;NM_000559;U01317;V00512;V00513;V00514;X55655 AAA16332;AAA35953;AAA52637;AAA58493;AAA58609;AAB59429;AAH10913;AAH10914;AAH20719;AAL99545;AAS48085;ABM83591;ABM83727;ABM87047;ADL14496;CAA23770;CAA23771;CAA23772;CAA39188;EAW68804;NP_000550;P69891 Hs.702189 1668701;1813096;1813606;1814350;1814686;1821524;1843148;2052580;2052582;2052584;2052586;2052588;2052590;2052592;2052594;2052596;2052598;2052600;2052602;2052604;2052620;2052624;2105514;2105516;2105522;2117288 A008Q26;ECD07567;ECD07826;ECD08204;ECD08374;ECD11848;ECD22782;REN97447;REN97448;REN97449;REN97450;REN97451;REN97452;REN97453;REN97454;REN97455;REN97456;REN97457;REN97458;REN97459;REN97467;REN97469;RH11785;stSG610842;stSG610843;stSG610846 HBGA;HBGR;HSGGL1;PRO2979 A-gamma globin;OTTHUMP00000069646;gamma A hemoglobin;gamma globin;gamma-1-globin;hb F Agamma;hemoglobin gamma-1 chain;hemoglobin gamma-a chain;hemoglobin subunit gamma-1;hemoglobin, gamma, regulator of APPROVED protein-coding 4831 00789 141749;142200 REVIEWED 1351638 HBG2 hemoglobin, gamma G The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] 11 11 p15.5 5230997 5232587 - 5274421 5276011 - 1600594;1600598;6480464 2432426;7741137 2581919;18951049;18932071;18667698;18467329;18443038;18266208;18096417;17916326;17365007;16956833;16370494;15798211;15645283;15489334;15476181;15231748;15108284;14649320;14087393;12543931;12488461;12477932;11827978;11791877;11514664;11172039;11132233;10722116;10722115;10722114;10335983;8718701;8718700;8566966;8144355;7713741;7687855;7687241;7558873;7438203;7332928;7250702;7162987;7151176;6985481;6985477;6985475;6895866;6814491;6714226;6701091;6652684;6457059;6330670;6327288;6324786;6303333;6297279;6292840;6292831;6280057;6272205;6270663;6264391;6210198;6208955;6206897;6194897;6194893;6192110;6186636;6186635;6186522;6184621;6172403;6165992;6158500;6155216;6095301;6091051;6086605;5792729;5554303;4846278;4837284;4429671;4403130;3879975;3879973;3857622;3455755;3382401;3267215;3120456;2933810;2649166;19050890;2581851;2579547;2578620;2578619;2483933;2470017;2459083;2459082;2442123;2442122;2441598;2435680;2420748;2416635;2413469;1726095;1714434;1706691;1703139;1703138;1698280;1127124;881729;873928;836882;822353;88735;19861239;19892574;19958193;20113294;20472475;21561349;20439494;20688955;20183929;20602015;21123872;21832049;21609963;21755589;19738201;21988832;22623428;23284307;22871617;22825848 3048 D9YZU9;E9PBW4;F8WB96;P69892 ABBA01028649;AC104389;AF110493;AK290492;AMYH01003362;AY662983;BC029387;BC130457;BC130459;FJ948815;GU324926;M11427;M15386;M32250;M32723;M91036;M91037;NG_000007;NM_000184;U01317;V00515;X06490;X55656;X55657 AAA16331;AAA35955;AAA35957;AAA58492;AAA58610;AAB50159;AAB59428;AAD19655;AAH29387;AAI30458;AAI30460;AAT98611;ABM86835;ADB93137;ADL14497;BAF83181;CAA23773;CAA39189;CAA39190;CAB58151;NP_000175;P69892 Hs.302145 1668701;1813096;1813606;1814350;1814478;1817156;1842518;1844864;2052586;2052590;2052616;2052618;2052620;2052622;2052624;2052626;2052628;2052630;2052632;2052634;2052636;2052638;2105522;2105524 ECD07567;ECD07826;ECD08204;ECD08269;ECD09628;ECD22466;ECD23648;REN97450;REN97452;REN97465;REN97466;REN97467;REN97468;REN97469;REN97470;REN97471;REN97472;REN97473;REN97474;REN97475;REN97476;RH11785;stSG610846;stSG610847 FLJ76540;TNCY G-gamma globin Paulinia;OTTHUMP00000069638;abnormal hemoglobin;gamma-2-globin;hb F Ggamma;hemoglobin gamma-2 chain;hemoglobin gamma-G chain;hemoglobin subunit gamma-2;methemoglobin APPROVED protein-coding ENSG00000196565 4832 00792 141749;142250;613977 REVIEWED 1313995 HBQ1 hemoglobin, theta 1 Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 429850 430693 + 170335 171178 + 230333 231178 + 1580863;6480464 7555018;16728641;15489334;12477932;11157797;3422341;3408475;2921315;2649166;2569721;16138310;21453942 3049 P09105 ABBA01030387;AE006462;AMYH01006986;BC056686;CH471112;DQ431198;M33022;M91453;NG_000006;NM_005331;X06482;Z84721 AAA52640;AAA58362;AAH56686;AAK61217;ABD95912;CAA29776;EAW85861;NP_005322;P09105 Hs.247921 1829944;1834492;2047688;2047690;2047692;2047694;2047696;2047698;2047700;2047702;2047704;2047706;2047708;2047710;2047712;2104470;2154008 ECD16105;ECD18394;REN94980;REN94981;REN94982;REN94983;REN94984;REN94985;REN94986;REN94987;REN94988;REN94989;REN94990;REN94991;REN94992;RH70814;stSG608927 OTTHUMP00000067158;hemoglobin subunit theta-1;hemoglobin theta-1 chain;theta-1-globin APPROVED protein-coding ENSG00000086506 4833 00791 142240 REVIEWED 733921 HBP1 HMG-box transcription factor 1 7 7 q22-q31 106596696 106630210 + 106809406 106842974 + 6480464 9030690;17616670;17092945;16966377;16713569;16495219;16210625;16179914;15489334;15235594;15231748;15024088;14872137;14702039;12853948;12477932;11500377;11486012;10958660;10562551;9178770;20383199;20581871;20008325;20211142;22586168;20505989;18255255;21967847;21890473;21963094;18654987;21988832;23249948 26959 B4DJ36;C9J5U3;C9J8V6;C9JAW1;C9JPK6;C9JQU7;H7C4S2;H7C574;O60381 AACC02000004;ABBA01057912;AC004492;AF019214;AF182038;AK025284;AK074353;AK122785;AK295910;AK298504;AMYH01017830;BC017069;BC022329;CH236947;CH471070;NM_001244262;NM_012257 AAB71862;AAC08317;AAD56225;AAH17069;AAH22329;ABM82502;BAB85059;BAG53729;BAG58698;BAG60711;EAW83392;EAW83393;EAW83394;NP_001231191;NP_036389;O60381 Hs.162032 1655594;1771215;1771816;1772546;1789336;1855666;1856015;2120692;2132223;2142198;2160212;2174845;2189511 A004F09;D7S1412;D7S2108E;D7S2333;G67890;G73140;RH12237;RH16458;RH46323;SGC34252;SGC44497;STS-N63962;WI-17975 FLJ16340 HMG box transcription factor 1;HMG box-containing protein 1;OTTHUMP00000212317;OTTHUMP00000212318;OTTHUMP00000212319;OTTHUMP00000212325;high mobility group box transcription factor 1 protein-coding ENSG00000105856 23200 13634 VALIDATED 1316709 HBZ hemoglobin, zeta Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009] 16 16 p13.3 142854 144504 + 202854 204504 + 1580863;6480464 7555018;15755797;15555579;15489334;12477932;11747442;11494285;11157797;10381533;9054936;7402334;6963223;6308667;6297773;6179844;6172357;6171809;6089189;4135409;2649166;2411938;1549498;822353;16169070;20098747;18078517;21832049;19738201;22623428 3050 P02008;Q1W6G9 ABBA01030388;ABBA01030389;AE006462;AMYH01006983;AMYH01006984;BC027892;CH471112;CR456848;DQ431198;J00182;M24173;NG_000006;NM_005332;Z84721 AAA61306;AAB59406;AAH27892;AAK61214;ABD95908;ABM85006;ABW03672;CAB06552;CAG33129;EAW85864;NP_005323;P02008 Hs.585357 1804568;1804776;1805588;1823254;2047528;2047530;2047532;2047534;2047536;2047538;2047540;2047542;2047544;2047546;2104450 ECD03215;ECD03321;ECD03744;ECD12716;REN94896;REN94897;REN94898;REN94899;REN94900;REN94901;REN94902;REN94903;REN94904;REN94905;stSG608905 HBAZ;OTTHUMP00000066293;hemoglobin subunit zeta;hemoglobin zeta chain;zeta-globin APPROVED protein-coding 4835 00794 142310 REVIEWED 7245459 HCCAT3 hepatocellular carcinoma associated transcript 3 (non-protein coding) q13.41 12477932;16344560 101669766 AC011460;BC014606;NR_103847 Hs.637744 ZNF350-AS1;uc002pyc miscrna 48598 VALIDATED 1318318 HBS1L HBS1-like (S. cerevisiae) This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009] 6 6 q23.3 135323209 135417715 - 135281516 135376036 - 1580863;6480464;6907045 9872408;19148297;18839276;18667698;17712044;17592125;16344560;15489334;14702039;14574404;12477932;10470851;21738478;19696200;19820697;19862010;20183929;20927387;20472475;21068433;19853236;20139978;20418951;21385855;21448132;21832049;22939629;22863883;21139048;21890473;21906983;22423221;21145461;21963094;21988832;23000965;23043469;23222517;23263863;12417652;20531386;22053931;22505724;22936743;22139419 10767 B7Z1K2;B7Z524;D9YZV0;E9PHZ9;E9PJ90;E9PLR4;E9PMN1;E9PN23;E9PS53;G5E991;H0YD85;H0YDX7;H0YES5;J3QT46;Q9Y450 AB028961;ABBA01025845;ABBA01025846;AF161394;AJ420551;AJ459826;AJ459827;AK024258;AK293573;AK295545;AK298336;AL137664;AL353596;AL445190;AMYH01016690;AMYH01016691;BC001465;BC040849;BX648033;CH471051;DB051030;GU324927;NG_012002;NM_001145158;NM_001145207;NM_006620;U87791 AAD00645;AAF28954;AAH01465;AAH40849;ACE86736;ACE87422;ADL14498;BAA82990;BAG51281;BAH11538;BAH12101;BAH12760;CAB70865;CAD30873;CAD30874;EAW47980;EAW47981;EAW47982;EAW47983;EAW47984;NP_001138630;NP_001138679;NP_006611;Q9Y450 Hs.378532 1659634;1711044;1727941;1792318;1792320;1852697;5118576;5491782 D11S3430;G63389;HBS1L;HSC20G062;PMC140821P2;PMC140821P3;RH46724;SHGC-86149 DKFZp686L13262;EF-1a;ERFS;HBS1;HSPC276 ERF3-similar protein;HBS1-like protein;Hsp70 subfamily B suppressor 1-like protein;OTTHUMP00000017252;OTTHUMP00000017253;OTTHUMP00000017254;OTTHUMP00000017255;OTTHUMP00000234184;OTTHUMP00000234185;OTTHUMP00000234186;OTTHUMP00000234187;OTTHUMP00000234192 APPROVED protein-coding ENSG00000112339 4834 06582 612450 REVIEWED 6481339 HCFC1-AS1 HCFC1 antisense RNA 1 100873990 U52112 APPROVED miscrna 40273 1316071 HCAR1 hydroxycarboxylic acid receptor 1 G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005] 12 12 12 q24.31 122804963 122807939 - 121778106 121781082 - 123212153 123215129 - 1580863;6480464 15831516;19047060;18952058;15489334;15177553;12477932;12044878;11574155;19913121;20628086;19633298;21454438;21907911;21862690 27198 Q9BXC0 AB065866;AB083631;ABBA01060453;AC026333;AF345568;AF385431;AF385432;AF411110;AK289557;AK313955;AMYH01004831;AY507143;BC066881;BC066882;BC066883;BC067484;BC095506;CH471054;DQ157221;EU809458;NM_032554 AAH66881;AAH66882;AAH66883;AAH67484;AAH95506;AAK29071;AAL26481;AAM43832;AAM43833;AAR92485;AAZ67915;ACJ03844;ACT64401;ACT64402;BAB89344;BAC06084;BAF82246;BAG36671;EAW98337;NP_115943;Q9BXC0 Hs.610873;Hs.711001 5037552;5492421 D8S2279;UniSTS:481004 FKSG80;GPR104;GPR81;HCA1;LACR1;TA-GPCR G protein-coupled receptor 104;G protein-coupled receptor 81;G-protein coupled receptor 104;G-protein coupled receptor 81;OTTHUMP00000239651;T-cell activation G protein-coupled receptor;hydroxy-carboxylic acid receptor 1;hydroxycarboxylic acid receptor 1;lactate receptor 1 APPROVED protein-coding 4532 06083 606923 VALIDATED 7244818 HCCAT5 hepatocellular carcinoma associated transcript 5 (non-protein coding) 16 q22.3 73126248 73127673 + 23314567;12477932;20130911 283902 ABBA01016811;AC116667;AMYH01007802;BC019009;CH471166;FJ222407;FJ222408;NR_027756 ACI46634;ACI46635;EAW59167 Hs.382776 HTA miscrna ENSG00000260880 48612 VALIDATED 5130642 HCFC2P1 host cell factor C2 pseudogene 1 13 13 89977368 89978882 + 109132610 109134124 + 100419149 ABBA01027019;AL138694;AMYH01005363;NG_024949 pseudo 39815 INFERRED 1348987 HCAR3 hydroxycarboxylic acid receptor 3 12 12 q24.31 121765256 121767392 - 123199303 123201439 - 1580863;6480464 9205127;7505609;19502010;19237584;18983141;17562024;16344560;15489334;12646212;12563315;12522134;12477932;12090300;19561068;19633298;20380810;19913121;20628086;21454438;21655214;22289163 8843 P49019 AB065865;ABBA01060453;AC026333;AK290930;AK313212;AMYH01004831;BC038955;BC047891;BI908162;CB529340;CD366840;CH471054;CU451507;D10923;DA948030;DA953971;EU293604;NM_006018;R02740 AAH47891;ABX64359;BAA01721;BAC06083;BAF83619;BAG36027;EAW98335;EAW98336;NP_006009;P49019 Hs.458425 1778386;2106773;2108119;2152884 D12S2030;GC10S02;GPR109B_8864;RH17364 GPR109B;HCA3;HM74;PUMAG;Puma-g G protein-coupled receptor 109B;G-protein coupled receptor 109B;G-protein coupled receptor HM74;G-protein coupled receptor HM74B;GTP-binding protein;OTTHUMP00000231762;hydroxy-carboxylic acid receptor 3;hydroxycarboxylic acid receptor 3;niacin receptor 2;nicotinic acid receptor 2;putative chemokine receptor APPROVED protein-coding ENSG00000255398 16824 06917 606039 VALIDATED 1352808 HCAR2 hydroxycarboxylic acid receptor 2 12 12 q24.31 121751793 121753857 - 123185840 123187904 - 1299612;1580863;6480464 12646212 17932499;19502010;19141678;19136666;18983141;18787507;18639743;16674924;16018973;15489334;12522134;12477932;12044878;20460384;19913121;20628086;19633298;20184326;20380810;20655299;2834384;21167710;21454438;21655214;21768093;22267479;22962331 338442 Q8TDS4 AB065665;AB065876;AB083632;ABBA01060454;AC026333;AK290915;AL572062;AL698846;AMYH01004830;AY148884;BC027965;BC056419;BC063461;CD364466;EU012026;NM_177551 AAH27965;AAH56419;AAN71621;ABS29270;BAB89345;BAC05891;BAC06094;BAF83604;NP_808219;Q8TDS4 Hs.524812 2106771;2108119;2152884 GC09S04;GPR109B_8864;RH17364 GPR109A;HCA2;HM74a;HM74b;NIACR1;PUMAG;Puma-g G protein-coupled receptor 109A;G protein-coupled receptor HM74a;G-protein coupled receptor 109A;G-protein coupled receptor HM74A;OTTHUMP00000222584;hydroxy-carboxylic acid receptor 2;hydroxycarboxylic acid receptor 2;niacin receptor 1;nicotinic acid receptor APPROVED protein-coding ENSG00000182782 24827 16453 609163 VALIDATED 1344045 HCG13P HLA complex group 13 pseudogene p21 493813 Z98744 dJ193B12.5 pseudo 17724 1354076 HCG14 HLA complex group 14 (non-protein coding) p21 414760 AI859157;AL662871;AW270927 Hs.211005 dJ111M5.4 HLA complex group 14;HLA complex group 14 (non-protein coding) APPROVED miscrna 18323 1344561 HCG11 HLA complex group 11 (non-protein coding) 6 6 6 p22.2 27751268 27756954 + 26521934 26527621 + 26521934 26527621 + 14702039 493812 ABBA01066557;AK024111;AL121936;AMYH01016163;NR_026790 Hs.272939 5022578;5022651;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279 FLJ14049;FLJ30357;bK14H9.3 APPROVED miscrna ENSG00000228223 17707 VALIDATED 1344551 HCG15 HLA complex group 15 414761 18361 1347152 HCG16 HLA complex group 16 414766 20424 1345560 HCG19P HLA complex group 19 pseudogene 414776 31336 1316555 HCFC2 host cell factor C2 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008] 12 12 12 q23.3 104121988 104164044 + 102982457 103021373 + 104458236 104500302 + 737633;1580863;6480464 12477932 10196288;18029348;16344560;15489334;15199122;8125298;21903422;20305087;22379092 29915 C0H5X3;F8VU09;Q9Y5Z7 ABBA01053208;AC078819;AC084359;AC089983;AF117210;AI247087;AK223342;AK296523;AK313466;AMYH01004710;BC006558;BC033799;CH471054;DB030069;NM_013320 AAD27814;AAH06558;AAH33799;ABZ92020;BAD97062;BAG36252;BAG59154;EAW97736;EAW97737;NP_037452;Q9Y5Z7 Hs.506558 1668816;1699498;1717849;1746409;1755281;2184505 G64552;RH103342;RH122756;SHGC-142174;SHGC-64926;STS-H93140 FLJ94012;HCF-2;HCF2 C2 factor;OTTHUMP00000243122;host cell factor 2 APPROVED protein-coding 24972 06393 607926 REVIEWED 1352352 HCG17 HLA complex group 17 (non-protein coding) 6 p21 30201816 30293911 - 8889548 414778 AB023055;ABBA01038041;AI194060;AL662782;AL662795;AL662832;AL773535;AL844220;AL845452;AMYH01016204;BM683300;BM929327;BQ186667;BX248419;BX248580;BX927189;BX927214;CR388382;CR759281;CR759928;CT009520;CT009538;NR_052012 Hs.485041 LINC00046;NCRNA00046 miscrna ENSG00000270604 31339 VALIDATED 1346831 HCG20 HLA complex group 20 414774 31334 1350067 HCG21 HLA complex group 21 414775 31335 1348807 HCG23 HLA complex group 23 (non-protein coding) 6 p21 32358287 32361468 + 22688191;21804548 414764 ABBA01038110;AL662796;AL670296;AL935032;AMYH01016238;BX255945;BX908732;CR752644;CR759773;CR759917;NR_044996 Hs.57692 dJ1077I5.3 APPROVED miscrna ENSG00000228962 19713 VALIDATED 1351536 HCG24 HLA complex group 24 (non-protein coding) p21 414768 AL645940 dJ1033B10.15 APPROVED miscrna 23500 1348434 HCG25 HLA complex group 25 (non-protein coding) 6 p21 33217313 33222667 + 414765 ABBA01038138;AL645940;AL713971;AL844527;AMYH01016242;BX248408;CR547129;CR759786;CR759817;CR762434;NR_044997 Hs.675862 dJ1033B10.16 APPROVED miscrna ENSG00000232940 20196 VALIDATED 1350954 HCG26 HLA complex group 26 (non-protein coding) 6 6 6 p21.3 33038185 33039364 + 31546985 31548163 + 31439006 31440185 + 16702430;10557312;7806210;22399527;22797727 352961 AB088105;ABBA01038075;AL645933;AL662866;AMYH01016216;BX001040;BX005439;CR753820;CR753864;L29376;NR_002812 Hs.132807 3.8-1;NCRNA00191;bCX205D4.4;bPG181B23.4 miscrna 29671 VALIDATED 1351730 HCFC1R1 host cell factor C1 regulator 1 (XPO1 dependent) 16 16 16 p13.3 3278182 3279843 - 3012627 3014288 - 3072626 3074287 - 6480464 12477932;12235138;16169070;16341674;17207965;19913121;20628086;21832049 54985 I3L174;I3L1N5;J3KNY1;Q9NWW0 ABBA01026726;AC108134;AK000575;AK293768;AMYH01007088;AY116892;BC064026;BC065514;BC080178;BM790570;BM925785;CH471112;CR457245;FB775554;FB775556;FB775558;NM_001002017;NM_001002018;NM_017885 AAH64026;AAH80178;AAM49798;ADQ32014;BAA91265;BAG57184;CAG33526;CAV30734;CAV30735;CAV30736;EAW85424;EAW85425;EAW85426;EAW85427;NP_001002017;NP_001002018;NP_060355;Q9NWW0 Hs.423103 2109379;2117908;2129131;2142712 HCFC1R1_8058;RH41886;RH67838;STS-T56712 FLJ20568;HPIP;MGC70711;MGC99622 HCF-1 beta-propeller interacting protein;HCF-1 beta-propeller-interacting protein;host cell factor C1 regulator 1 protein-coding ENSG00000103145 21198 13636 VALIDATED 1351896 HCG2P1 HLA complex group 2 pseudogene 1 387484 17900 1343348 HCG2P2 HLA complex group 2 pseudogene 2 387502 30786 1348287 HCG2P4 HLA complex group 2 pseudogene 4 387501 29015 1353415 HCG22 HLA complex group 22 (non-protein coding) 6 6 6 p21.33 32622207 32627873 + 31129963 31135632 + 31021227 31027667 + 6480464 14702039;20981447;21051598;19851445;22493691;23001997;23263863 285834 E2RYF7 AB560771;AB600644;ABBA01038067;AK094433;AL663093;AL669830;AL805909;AMYH01016208;BX247900;BX927139;CR753812;CR759772;CR759964;CT009481;NR_003948 BAJ24155;BAJ33503;E2RYF7 Hs.207528 1790825;1790877;2189607;2220228;2220230;7184132 C2_4_5;D6S2693;D6S2694;D6S2941;D6S2942 FLJ37114;PBMUCL2 APPROVED miscrna ENSG00000228789 27780 613918 VALIDATED 1344810 HCG2P7 HLA complex group 2 pseudogene 7 6 6 6 p21.3 31464838 31468447 + 29974787 29978417 + 29866808 29870438 + 16702430;10557312 80867 AB023057;AB201551;AL645929;AL645935;AL845454;BX284699;BX927141;CR388220;CR759913;CT009496;CT009517;NR_001318;X81001 Hs.720720 HCGII-7;HCGII.2 pseudo VALIDATED 1346547 HCG2P8 HLA complex group 2 pseudogene 8 6 6 p21.3 31376029 31379572 + 29772896 29776439 + 10557312 353012 AL645939;AL671561;AL844851;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002737 HCGII-8;HCGII.3 pseudo PROVISIONAL 1351882 HCG2P6 HLA complex group 2 pseudogene 6 6 6 6 p21.3 31526298 31533388 + 30036085 30043176 + 29928106 29935198 + 10557312;20593013 353006 AB023056;AL645935;AL671277;AL845454;BA000025;BX005091;CR382333;CR388220;CR759762;CR759913;NG_016118 1340539 D6S1641 HCGII-6;HCGII.1 pseudo REVIEWED 1352684 HCCS holocytochrome c synthase The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] X X p22.3 11039373 11051122 + 11129406 11141206 + 1600417;1580863;6480464;6907045;7240710 17033964 8661044;11827457;17893649;16263763;15489334;14702039;12477932;12444108;9674913;8364577;16344560;18029348;19734545;17207965;20301767;21906983;23150584;19322201 3052 P53701;Q68D50 ABBA01070883;AC003657;AF053015;AI027533;AK097815;AMYH01022076;AU310864;BC001691;BC095455;CH471074;CR749578;DB253108;NG_016460;NM_001122608;NM_001171991;NM_005333;U36787 AAB19007;AAC35274;AAH01691;AAH95455;ACE86902;ACE87589;ADQ31712;BAG53533;CAH18370;EAW98783;EAW98784;EAW98785;NP_001116080;NP_001165462;NP_005324;P53701 Hs.211571 1686718;1706014;2186776 RH71227;RH91114;SHGC-78640 CCHL;DKFZp779I1858;MCOPS7 OTTHUMP00000022903;OTTHUMP00000022904;OTTHUMP00000022905;cytochrome c heme-lyase;cytochrome c-type heme lyase;holocytochrome c-type synthase APPROVED protein-coding ENSG00000004961 4837 02085 300056;309801 REVIEWED 1351991 HCG4P1 HLA complex group 4 pseudogene 1 387503 30978 1353303 HCG27 HLA complex group 27 (non-protein coding) 6 6 6 p21.33 32765777 32771982 + 31273578 31279724 + 31165537 31171745 + 737633;6480464 12477932 16344560;14702039;20585627;19851445;22319020 253018 H0YLW2;H0YMJ2 ABBA01038072;AK097442;AL662833;AL662844;AL845458;AMYH01016209;BC041465;BC104432;BC104433;BX088580;BX322539;CH471081;CR388229;CR759815;DB027671;NR_026791 EAX03370;EAX03371;EAX03372 Hs.659818 1682690;1682968;1790813;1790815;7184112 D6S2683;D6S2684;RH79601;RH92664 FLJ40123;MGC129794;MGC129795;bCX101P6.9;bPG299F13.9;bQB115I13.2 APPROVED miscrna ENSG00000206344 27366 13637 VALIDATED 1347135 HCG12 HLA complex group 12 6 p21.3 98997441 98998740 - 12477932 493826 AL590705;BC058829;BC070371;NR_002831 Hs.648180 bA457M11.2 miscrna 31344 1348369 HCG4P2 HLA complex group 4 pseudogene 2 387504 30979 1348171 HCG4P11 HLA complex group 4 pseudogene 11 6 6 6 p21.3 31292410 31293399 - 29796934 29797923 - 29688955 29689944 - 10557312 353020 ABBA01038036;AL645939;AL669813;AL844851;AMYH01016196;BA000025;BX005428;BX927250;CR753818;CR759790;NG_002744;NG_012009 2125617;2189639 D6S2269;RF HCGIV-11;HCGIV.10 pseudo 22930 INFERRED 1343995 HCG4P4 HLA complex group 4 pseudogene 4 6 6 6 p21.3 31521194 31521621 - 30030961 30031389 - 29922982 29923410 - 10557312 353002 AB023056;ABBA01038040;AL645935;AL671277;AL845454;AMYH01016204;BA000025;CR382333;CR388220;CR759762;CR759913;NG_016113 HCGIV-04;HCGIV-4;HCGIV.3 pseudo 22924 INFERRED 1349547 HCG4B HLA complex group 4B (non-protein coding) 6 6 6 p21.3 31490566 31491628 - 30000348 30001407 - 29892369 29893428 - 6480464 14702039;10557312;16702430 80868 Q96MM2 AB023056;AB201552;ABBA01038039;AK056727;AL645935;AL671277;AL845454;AMYH01016204;BX005091;CR382333;CR388220;CR759913;NR_001317;X81005 BAB71265 Hs.661198;Hs.732684 1794508;1852219 PMC316580P5;STS-M80468 HCG4P6;HCGIV-06;HCGIV-6;HCGIV.5;bCX67J3.3;bPG309N1.1;bQB90C11.3 APPROVED miscrna 22919 VALIDATED 1352669 HCG4P8 HLA complex group 4 pseudogene 8 6 6 6 p21.3 31397025 31398010 - 29901886 29902871 - 29793906 29794891 - 10557312;20593013 353005 ABBA01038036;AL022723;AL645929;AL645939;AL671561;AMYH01016198;BA000025;BX001005;BX247949;BX927141;CR759769;CR788234;NG_016117 1745701;1745703;1745705;1745707 GDB:632502;GDB:632559;GDB:632567;GDB:632571 HCGIV-08;HCGIV-8;HCGIV.7 pseudo 22927 INFERRED 1346603 HCG4P7 HLA complex group 4 pseudogene 7 6 6 6 p21.3 31452026 31452923 - 29961867 29962764 - 29853887 29854784 - 10557312 353004 AB023057;ABBA01038038;AL645929;AL671561;AL845454;AMYH01016203;BA000025;BX284699;BX927141;CR388220;CT009496;CT009517;NG_016116 HCGIV-07;HCGIV-7;HCGIV.C pseudo 22926 INFERRED 1350129 HCG4P10 HLA complex group 4 pseudogene 10 6 6 6 p21.3 31361624 31362713 - 29866236 29867325 - 29758257 29759346 - 10557312 353017 AL645939;AL671561;AL844851;BA000025;BX005428;BX927182;CR759769;CR788234;CR925767;NG_002741 HCGIV-10;HCGIV.9 pseudo 22929 INFERRED 1604944 HCG4P9 HLA complex group 4 pseudogene 9 6 6 6 p21.3 31369334 31371036 - 29874180 29875882 - 29766201 29767903 - 10557312 353014 ABBA01038036;AL645939;AL671561;AL844851;AMYH01016198;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002739 2220094 D6S2854 HCGIV-09;HCGIV-9 pseudo 22928 INFERRED 1344229 HCG4P3 HLA complex group 4 pseudogene 3 6 6 6 p21.3 31570827 31571810 - 30080601 30081584 - 29972622 29973605 - 10557312 353001 AB023056;ABBA01038041;AL645935;AL671277;AL845454;AMYH01016204;BA000025;BX005091;BX927229;CR388205;CR759763;CR759943;CR759960;NG_016112 1852219 STS-M80468 HCGIV-03;HCGIV-3;HCGIV.2 pseudo 22922 INFERRED 1351443 HCG9P1 HLA complex group 9 pseudogene 1 387505 30980 1351523 HCG9P2 HLA complex group 9 pseudogene 2 387506 30981 1353380 HCG4P5 HLA complex group 4 pseudogene 5 6 6 6 p21.3 31506903 31507791 - 30016668 30017557 - 29908689 29909578 - 10557312 353003 AB023056;ABBA01038040;AL645935;AL671277;AL845454;AMYH01016204;BA000025;BX005091;CR382333;CR388220;CR759913;NG_016115;NG_029217 1786138;1794508 PMC316580P5;SHGC-172574 HCGIV-05;HCGIV-5;HCGIV.4 pseudo 22925 INFERRED 1352356 HCG9P5 HLA complex group 9 pseudogene 5 6 6 6 p21.3 31319464 31319858 + 29823907 29824503 - 29716031 29716425 + 10557312 353019 ABBA01038036;AL645939;AL669813;AL844851;AMYH01016197;BA000025;BX005428;BX927182;CR753818;CR788234;NG_002743 7184130 D6S2707 HCGIX-5;dJ377H14.6 pseudo 30983 INFERRED 1347510 HCHOLA4 hypercholesterolemia, autosomal dominant 4 246132 18573 1345986 HCG9 HLA complex group 9 (non-protein coding) This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009] 6 6 6 p21.3 31541082 31544371 + 30050871 30054159 + 29942892 29946180 + 16702430;16344560;10727083;10557312;8753856;8575815;20593013;19851445;20410501;22197929;23511034;21647149 10255 Q96QB4 AB023056;AB088085;AB103591;AB202080;ABBA01038041;AF055066;AK289926;AL645935;AL671277;AL845454;AMYH01016204;BA000025;BX005091;BX927229;CH471081;CR388205;CR759762;DA293452;NR_028032;X92109;X95289 AAC24824;AAI48574;AAI56750;BAB63335;BAC54918;BAE78599;BAF31255;BAF82615;CAA63081;CAA64611;EAX03247 Hs.656251 1732099;7184824 D6S510 HCGIX;HCGIX4 APPROVED miscrna ENSG00000204625 21243 17092 VALIDATED 1345524 HCG9P3 HLA complex group 9 pseudogene 3 387507 30982 1348375 HCL2 hair color 2 (red) 3057 4842 266300 1350821 HCL3 hair color 3 (brown) 7240710 8875191 3058 4843 203200;227220 1342994 HCG18 HLA complex group 18 (non-protein coding) 6 6 6 p21.3 31853381 31893117 - 30255174 30294927 - 30255174 30294927 - 6480464 14702039;12477932;16344560 414777 ABBA01038041;AK023334;AK055657;AK056160;AK098416;AL662795;AL662832;AL773535;AL844220;AL845452;AMYH01016204;BC035165;BC040058;BX248419;BX248580;BX927189;BX927214;CR759281;CR759928;CT009538;DA780826;NR_024052;NR_024053;NR_102326;NR_102327 Hs.485041 1645504;1650989;1684682;1693520;1769164;2118426;2143818;2181585;2220142 D6S1174E;D6S2847;G31106;RH12871;RH15870;RH16369;RH46602;RH98985;SHGC-58578 FLJ25550;FLJ31095;FLJ31598 APPROVED miscrna 31337 VALIDATED 1342481 HCL1 hair color 1 (brown) 3056 4841 1345622 HCFC1 host cell factor C1 (VP16-accessory protein) This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] X X q28 152866202 152890013 - 153213008 153236819 - 1580863;6480464;7240710 12670868;10675337;8392914;10623756;19377461;7876203;19292868;19131338;18520591;18343819;17612494;17578910;17567994;17081983;16964243;16633736;16624878;16042417;15966902;15931389;15705566;15522876;15489334;15200950;15190068;14532282;12743030;12477932;12271126;12244100;12235138;11340173;10976766;10958670;10871379;10779346;10637318;10629049;9889203;9315674;8661027;7829097;7590226;9658067;9389645;11733490;8454622;12149646;15199122;10821850;7597030;9822615;14983011;19913121;20628086;20479123;1448082;15960975;17643375;18585351;19188440;19615732;19763085;19815555;20018852;20126307;20133788;20200153;9271389;18838386;18838538;20805357;18029348;20211142;17998332;16227571;21295698;17846119;20622854;21285374;20516061;21484256;22883232;22939629;23045687;21252943;12456665;20360068;21081666;21139048;21693764;21890473;21903422;21906983;19322201;21628590;21642991;21653943;21670149;22683710;19471022;20305087;22371484;22586326;22863883;23022380;21145461;21319273;23000143;23000965;11384994;18271526;22505724 3054 A6NEM2;AAB27583;H7C1C4;P51610 ABBA01045330;ABBA01045331;ABBA01045332;ABBA01045333;AMYH01023304;AMYH01023305;BC010606;BC019887;BC030560;BC063435;CH471172;DQ655939;L20010;NG_012513;NM_005334;U52112;X79198 AAB27583;AAH19887;AAH30560;AAH63435;ACX32326;CAA55790;EAW72767;EAW72768;EAW72769;NP_005325;P51610 Hs.83634 1661329;1672563;1694288;1748019;1772603;1798526;1798624;1800154;1800498;1800970;1801120;1801250;1801702;1801762;1801764;1801814;1802022;1802024;1802182;1802486;1802850;1802952;1803056;1803644;1803972;1804196;1806618;1806814;1814614;1814846;1818078;1831638;1845780;2034524;2034526;2034528;2034530;2034532;2034534;2034536;2034538;2034540;2034542;2034544;2034546;2034548;2034550;2034552;2034554;2034556;2034558;2034560;2034562;2034564;2034566;2034568;2034570;2034572;2034574;2034576;2034578;2034580;2034582;2034584;2034586;2034588;2034590;2034592;2034594;2034596;2034598;2034600;2034602;2034604;2034606;2034608;2034610;2034612;2034614;2034616;2034618;2034620;2034622;2034624;2034626;2034628;2034630;2034632;2034634;2034636;2034638;2034640;2034642;2034644;2034646;2034648;2034650;2034652;2034654;2034656;2034658;2034660;2034662;2034664;2034666;2034668;2034670;2034672;2034674;2034676;2034678;2034680;2034682;2034684;2034686;2034688;2034690;2034692;2034694;2034696;2034698;2034700;2034702;2034704;2034706;2034708;2034710;2034712;2034714;2034716;2034718;2034720;2034722;2034724;2034726;2034728;2034730;2034732;2034734;2034736;2034738;2034740;2034742;2034744;2034746;2034748;2034750;2034752;2034754;2034758;2102148;2102150;2102152;2102154;2102156;2102158;2102160;2102162;2102164;2102166;2102168;2102170;2102172;2102174;2102176;2102178;2115209;2165306;2180882;5094488;5094490;5117646 DXS7501;ECD00101;ECD00151;ECD00933;ECD01109;ECD01350;ECD01429;ECD01497;ECD01731;ECD01761;ECD01762;ECD01788;ECD01892;ECD01893;ECD01973;ECD02129;ECD02313;ECD02366;ECD02419;ECD02728;ECD02900;ECD03018;ECD04266;ECD04369;ECD08337;ECD08454;ECD10095;ECD16956;ECD24109;G10720;G42839;G54827;G54828;G66666;GDB:594111;REN88271;REN88272;REN88273;REN88274;REN88275;REN88276;REN88277;REN88278;REN88279;REN88280;REN88281;REN88282;REN88283;REN88284;REN88285;REN88286;REN88287;REN88288;REN88289;REN88290;REN88291;REN88292;REN88293;REN88294;REN88295;REN88296;REN88297;REN88298;REN88299;REN88300;REN88301;REN88302;REN88303;REN88304;REN88305;REN88306;REN88307;REN88308;REN88309;REN88310;REN88311;REN88312;REN88313;REN88314;REN88315;REN88316;REN88317;REN88318;REN88319;REN88320;REN88321;REN88322;REN88323;REN88324;REN88325;REN88326;REN88327;REN88328;REN88329;REN88330;REN88331;REN88332;REN88333;REN88334;REN88335;REN88336;REN88337;REN88338;REN88339;REN88340;REN88341;REN88342;REN88343;REN88344;REN88345;REN88346;REN88347;REN88348;REN88349;REN88350;REN88351;REN88352;REN88353;REN88354;REN88355;REN88356;REN88357;REN88358;REN88359;REN88360;REN88361;REN88362;REN88363;REN88364;REN88365;REN88366;REN88367;REN88368;REN88369;REN88370;REN88371;REN88372;REN88373;REN88374;REN88375;REN88376;REN88377;REN88378;REN88379;REN88380;REN88381;REN88382;REN88383;REN88384;REN88385;REN88386;REN88388;RH45209;RH70255;STS-D20139;STS-L20010;stSG603716;stSG603717;stSG603718;stSG603719;stSG603720;stSG603721;stSG603722;stSG603724;stSG603725;stSG603726;stSG603727;stSG603728;stSG603729;stSG603730;stSG603731;stSG603732 CFF;HCF-1;HCF1;HFC1;MGC70925;MRX3;VCAF C1 factor;HCF;OTTHUMP00000025995;OTTHUMP00000025997;VP16 accessory protein;host cell factor 1 APPROVED protein-coding ENSG00000172534 4839 02061 300019;309541 REVIEWED 1348159 HCG4 HLA complex group 4 (non-protein coding) 6 6 6 p21.3 31362175 31364194 - 29866795 29868829 - 29758808 29760850 - 6480464 17971048;12477932;19569244;10557312;10727083 54435 ABBA01038036;AF036977;AF055066;AL645939;AL671561;AL844851;AMYH01016197;BA000025;BC011879;BC021249;BX005428;BX927182;CR759769;CR788234;CR925767;NR_002139 AAD02090 Hs.660431 1678407 RH80527 HCG4P10;HCGIV-10;HCGIV.9 APPROVED miscrna 21241 VALIDATED 733930 HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011] 5 5 p12 45295109 45731977 - 45255052 45696220 - 1580863;6480464 9405696;19232126;18454440;18081024;17931874;16382102;14702039;12928435;12890777;12668666;12598605;12034718;11133998;9921901;9634236;9630217;8889548;22094222;17529967;20145138;20806410;21504900;23077068;19850743;21615589;21562186;23033536 348980 O60741;Q86WJ6 ABBA01024276;ABBA01024277;ABBA01024278;ABBA01024279;ABBA01024280;AC099514;AC114975;AC117529;AC138520;AF064876;AF488549;AK094523;AMYH01015063;AMYH01015064;AMYH01015065;AMYH01015066;BM931647;BX537747;CH471119;CK299850;DR003732;JA696656;NM_021072 AAC39759;AAI56455;AAI72530;AAO49469;CCF23297;EAW56077;EAW56078;NP_066550;O60741 Hs.353176 1339330;1671120;1680938;1688895;1704358;1715337;1747611;1747857;1767707;2135153;2155908;2176284;2219124;5095026 D5S1728;D5S1753;D5S2024;D5S2086;G65478;G66855;HCN1;HCN1__6701;RH120500;RH46224;RH74834;SHGC-14547;SHGC-53846;SHGC-78170 BCNG-1;BCNG1;HAC-2 OTTHUMP00000161806;brain cyclic nucleotide gated channel 1;brain cyclic nucleotide-gated channel 1;hyperpolarization-activated, cyclic nucleotide-gated potassium channel 1 (hcn1);potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 APPROVED protein-coding 4845 09099 602780 REVIEWED 1347465 HCG8 HLA complex group 8 6 p21.3 29978606 29981212 - 10557312;8575815;10557312;12477932;12975309;16702430;8575815 100507399 Q6UXQ7 AB088086;ABBA01038041;AL645935;AL669914;AL845454;AMYH01016204;AY358246;BC036766;BM991870;BX088647;BX927229;CR388205;CR759763;CR759960;NR_103542;X92110;XR_132516;XR_133421;XR_159104;XR_159137;XR_159138;XR_159140;XR_159142;XR_159143;XR_159146;XR_171561 AAQ88613 Hs.653168;Hs.729074 1700972;2141474;5022649;5022651 D11S2875;D11S2921;RH104113;WI-16058 HCGVIII;HCGVIII-1 miscrna 21242 PREDICTED 737126 HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008] 15 15 q24.1 71400988 71448230 - 73612200 73661605 - 1580863;6480464;7240710 16777944;17474147;10228147;19570998;19471099;19238754;18383475;18375593;18162181;17977941;17646576;16407510;16382102;16079136;15687126;15342556;15123648;14724293;14720471;14657344;12928435;12856183;12813043;12750403;12194012;11675786;10430953;8889548;16484306;22683190;19913121;20628086;20207172;19165230;19748888;19796353;20179882;21372143;20662977;21529705;23103389;21615589;22544366;20301690;22613709 10021 Q9Y3Q4 ABBA01038712;ABBA01038713;AC009660;AC068397;AJ132429;AJ238850;AMYH01006775;BM979827;BP291686;CH471082;DQ854814;JA696662;NG_009063;NM_005477 AAI56299;AAI72471;CAB42604;CAB52754;CCF23300;EAW77925;NP_005468;Q9Y3Q4 Hs.86941 1338672;1682517;1715607;1792612;1792614 D15S215;PMC155041P1;PMC155041P2;RH120947;RH92735 SSS2 OTTHUMP00000174871;hyperpolarization activated cyclic nucleotide-gated cation channel 4;hyperpolarization-activated, cyclic nucleotide-gated k+ 4;potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 APPROVED protein-coding ENSG00000138622 16882 09240 163800;605206;613123 REVIEWED 732305 HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM, Jul 2010] 19 19 p13.3 540893 568159 + 589893 617159 + 1580863;6480464 9630217;19471099;18768480;17931874;17043149;16777944;16382102;15980171;15961404;15932727;15687126;15057824;12928435;12890777;12813043;12640457;12477932;12194012;12034718;11133998;11076863;10524219;9921901;9405696;17474147;10228147;22094222;20437590;19913121;20628086;21890473;21615589;22131395;23395072 610 Q09ND3;Q9UL51 ABBA01002578;ABBA01002579;AC004449;AC005559;AF064877;AF065164;AJ012582;AJ133727;AMYH01009192;AMYH01009193;AMYH01009194;BC039619;CH471242;DQ854815;JA696658;NM_001194 AAC28444;AAC33280;AAC39760;AAI18002;ABI75145;CAB42602;CAB42630;CCF23298;EAW61179;NP_001185;Q9UL51 Hs.124161 1739525;1793130 D19S814;PMC196911P5 BCNG-2;BCNG2;HAC-1 brain cyclic nucleotide gated channel 2;brain cyclic nucleotide-gated channel 2;potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 APPROVED protein-coding ENSG00000099822 4846 07213 602781 VALIDATED 1352692 HCP5P13 HLA complex P5 pseudogene 13 6 6 6 p21.3 31364255 31365366 - 29868890 29870002 - 29760911 29762023 - 10557312 353016 AL645939;AL671561;AL844851;BA000025;BX005428;BX927182;CR759769;CR788234;CR925767;NG_002740 J377H14.12;P5-13;P5.10;dJ377H14.12 pseudo 30977 PROVISIONAL 1344703 HCP5P14 HLA complex P5 pseudogene 14 6 6 6 p21.3 31341689 31344027 - 29846303 29848642 - 29738324 29740663 - 10557312 353018 AL645939;AL669813;AL844851;BA000025;BX005428;BX927182;CR759769;CR788234;CR925767;NG_002742 P5-14;P5.6;dJ377H14.13 pseudo 30976 PROVISIONAL 1353649 HCP5P15 HLA complex P5 pseudogene 15 6 6 p21.3 31286446 31288779 - 29680372 29682705 - 10557312;10553908 353021 AL645939;AL669813;AL844851;BA000025;BX005428;BX927250;CR753818;CR759790;NG_002745 5017967 AluyHF_457(no_Alu) P5-15;P5.11;bPG170G13.1;dJ377H14.10 pseudo 21670 PROVISIONAL 1347531 HCP5P2 HLA complex P5 pseudogene 2 6 6 6 p21.3 31566986 31569233 - 30076760 30079027 - 29968782 29971028 - 10557312;7894158;20041166 352998 AB023056;AL645935;AL671277;BA000025;BX005091;BX927229;CR388205;CR759763;CR759943;NG_016109 P5-02;P5-2;P5.2 pseudo 21662 REVIEWED 1344209 HCP5P3 HLA complex P5 pseudogene 3 6 6 6 p21.3 31514229 31515528 - 30023981 30025280 - 29916002 29917301 - 10557312;7894158 352997 AB023056;AF055066;AL645935;AL671277;BA000025;CR759913;NG_016108 P5-03;P5-3;P5.3 pseudo 23084 REVIEWED 1342635 HCP5P6 HLA complex P5 pseudogene 6 6 6 6 p21.3 31481640 31484002 - 29991508 29993870 - 29883530 29885892 - 10557312;10553908;7894158 352993 AB023056;AL645935;AL845454;AL928614;BA000025;BX005091;BX927141;CR388220;CR759913;NG_016010 P5-06;P5-6;P5.4;bPG8G10.1 pseudo 21660 REVIEWED 1605218 HCP5P10 HLA complex P5 pseudogene 10 6 6 6 p21.3 31465083 31483100 + 29948054 29948488 - 29884702 29884990 + 12477932;10727083;10557312;7894158 352990 AB023057;AL645929;AL671561;AL845454;BA000025;BC035659;BC035828;BX284699;BX927141;CR388220;CT009496;CT009517;CU019528;NR_031762 Hs.662200 2220104 D6S2860 P5-10;P5.9 pseudo 30984 VALIDATED 1605973 HCN3 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 1 1 1 q22 128320546 128332814 + 153513998 153526262 + 155247218 155259639 + 6480464 16710414;16382102;16043489;15489334;14702039;12477932;10819331;16344560;9634236;12928435;21615589;19322201;15290763;15979128 57657 Q86WJ5;Q9P1Z3 AB040968;ABBA01016711;AF488550;AK055840;AK299333;AL713999;AMYH01001427;BC000066;BC028024;BC111364;CH471121;DA127524;JA696660;NM_020897;NR_073074 AAH00066;AAH28024;AAI11365;AAI56231;AAI57071;AAO49470;BAA96059;BAH13004;CCF23299;EAW53081;EAW53082;EAW53083;EAW53084;EAW53085;EAW53086;NP_065948;Q9P1Z3 Hs.706960 2127232 RH16325 KIAA1535;MGC131493 OTTHUMP00000034062;potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 APPROVED protein-coding ENSG00000143630 19183 17093 609973 REVIEWED 1312380 HCLS1 hematopoietic cell-specific Lyn substrate 1 3 3 q13 122832936 122862405 - 121350246 121379791 - 1580863;6480464;6907045 2587259;8978766;17508001;16713569;16189514;16157603;16094384;15795233;15754022;15710041;15570572;15489334;15166239;15144186;15022330;14702039;12534372;12522270;12477932;11988074;11689006;10806407;10590261;10233887;10066823;9104825;9058808;8713105;8125298;7927516;7682714;9670936;20530793;18029348;20211142;18067320;20467438;23017497;23022380;21287358;22333038;21044950;23001182;22679023;22768161 3059 B4DQ69;E7EVW7;F8WDD5;F8WEZ6;P14317 ABBA01016480;AC133750;AK124015;AK225633;AK298663;AK298696;AK300301;AK312750;AMYH01013425;BC016758;BT006824;CA447092;CH471052;CR456794;DC407066;NM_005335;X16663 AAH16758;AAP35470;ABM81590;ABM84770;BAG35617;BAG60831;BAG60854;BAG62054;CAA34651;CAG33075;EAW79505;EAW79506;NP_005326;P14317 Hs.14601 1718845;1772611;1857803;2107205;2137817;2143363;2148709;7183677 D3S3431;D3S3434;D3S3443;HCLS1_7801;RH123126;RH68808;STS-X16663 CTTNL;HS1 OTTHUMP00000215180;OTTHUMP00000215182;cortactin-like;hematopoietic lineage cell-specific protein;lckBP1;p75 protein-coding ENSG00000180353 4844 03199 601306 VALIDATED 1349217 HCP5 HLA complex P5 (non-protein coding) 6 6 p21.3 31538938 31541461 + 31430957 31433586 + 1580863;6480464 19115949;19050382;18982067;18684101;14702039;12477932;10553908;10199916;8462994;9799336;7894158;16344560;18369459;19483685;19851445;20041166;20534626;21051598;19935381;21084992;20559009;21832049;21510768;21801394;21912425;22493691;21860345;22589738 10866 Q6MZN7 ABBA01038075;AK093953;AK290875;AL645933;AL662866;AMYH01016216;BC106759;BC113853;BC114462;BX005439;BX640979;CH471081;CR753864;D88650;DA501560;L06175;NR_040662 AAA59986;AAI06760;BAF83564;CAE45991;EAX03398;EAX03399;EAX03400;Q6MZN7 Hs.691948 1776650;2117473;5493525 RH17599;RH46617;UniSTS:487045 6S2650E;D6S2650E;P5-1 HLA class I histocompatibility antigen protein P5;HLA complex protein P5;MHC class I region ORF;occurs in MHC class I region; ORF;protein P5-1 APPROVED miscrna 21659 05245 604676 VALIDATED 1349202 HCP5P8 HLA complex P5 pseudogene 8 p21.3 9177776 387508 D83771 P5-08 pseudo 30985 1346273 HCVS human coronavirus sensitivity 7240710 6285532 3063 4850 1348560 HCP5P12 HLA complex P5 pseudogene 12 6 6 p21.3 31387136 31389495 - 29784009 29786368 - 10557312;10553908 353011 AL645939;AL671561;BA000025;BX001005;BX247949;BX927141;CR759769;CR788234;NG_002736 2220096 D6S2836 P5-12;P5.5;dJ377H14.11 pseudo 21671 PROVISIONAL 732471 HCK hemopoietic cell kinase The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010] 20 20 q11-q12 30103718 30153320 + 30639991 30689659 + 1580863;6480464;6484113 9407116;16849330;12734410;7859737;12029088;3453117;3496523;18794796;17893228;17668209;17535448;17141806;17081983;17024369;16271895;16210316;15952790;15626739;15489334;15263807;15144186;15010462;14969582;14702039;14551213;14551197;12900520;12769846;12748290;12734187;12626508;12600646;12592324;12576423;12538589;12522270;12496276;12477932;12244095;12235133;12181444;11994282;11976726;11940572;11904303;11780052;11741929;11689697;11500821;11350938;11294897;11278465;11239464;11097855;11071635;10973280;10967098;10934191;10918587;10858437;10849448;10799548;10749872;10586033;10527858;10318861;10092522;10068673;9890970;9837776;9790917;9778343;9742969;9571048;9400828;9268059;9218412;9195918;9178913;9109402;9024658;9020138;8955135;8885868;8657103;8626374;8125298;8064233;8058772;7791757;7782336;7682059;1875927;1720539;1689310;1572549;1373873;15595833;15491611;10388555;12033791;10364375;9656992;11533201;12076760;11448168;16454711;10574946;22641034;10642173;10547288;8599760;15638726;15078178;11463741;10544125;9705913;7588629;11328823;12138090;11896602;14993658;16273093;16964398;17868192;18067320;21988832;22939624;23439650;20798061;10428862;15784897;16169070;16344560;16374509;19211505;19585521;19807924;20056178;20488787;20670214;20936779;20181660;22364282;20810664;15998323;18538446;18042718;21832049;22974441;21878628;21993313;22021612;21890473;21567396;22393415;22185326;15707590;22623531;22745667;21309750;23128233;14506255;18005690;19149577;19807124;20702582;21365684;21477083;21625496;21696586;21738584;21763503;21886773;22110726;22345475;22537596;22651890;8995358;19234535 3055 A8K4G3;H0Y3C5;H7BXG4;H7C5P9;J3KPD6;Q5T7K2 ABBA01019283;ABBA01019284;AK026432;AK225819;AK289896;AK290928;AK298726;AK314335;AL049539;AL353092;AMYH01011834;AMYH01011835;AW139272;BC014435;BC073748;BC094847;BC108930;BC108931;BC113854;BC114463;CH471077;DA465978;M16592;M73233;NG_029471;NM_001172129;NM_001172130;NM_001172131;NM_001172132;NM_001172133;NM_002110;X58741 AAA52644;AAH14435;AAH73748;AAH94847;AAI08931;AAI08932;AAI13855;AAI14464;BAB15482;BAF82585;BAF83617;BAG60878;CAA41565;EAW76392;EAW76393;EAW76394;NP_001165600;NP_001165601;NP_001165602;NP_001165603;NP_001165604;NP_002101;P08631 Hs.655210 1672659;1687702;1734190;1750353;1856340;2148308;2174079;2179527;2217410;5107599 336XG5;AL031189;D20S512E;D20S727;G09843;HCK_3380;RH45427;RH92890;SGC34341;SHGC-112528 JTK9;p59Hck;p61Hck OTTHUMP00000030578;OTTHUMP00000030579;OTTHUMP00000225030;OTTHUMP00000225031;hematopoietic cell kinase;p59-HCK/p60-HCK;tyrosine-protein kinase HCK APPROVED protein-coding ENSG00000101336 4840 00796 142370 REVIEWED 731040 HCRT hypocretin (orexin) neuropeptide precursor This gene encodes a hypothalamic neuropeptide precursor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. [provided by RefSeq, Jan 2010] 17 17 q21 37589604 37590996 - 40336078 40337470 - 1298943;728644;1358428;1358427;1358429;1358430;1600922;1600925;1600933;1600936;704404;1600919;1600923;1600935;1600932;1580863;1642016;1642020;6480464;7240710 9419374;9491897;12560202;15128861;12535169;12217430;11148249;15623725;16135994;15627867;10973318;11723284;15613151;15970339;17299454;12890892 19193897;19158946;19058789;18505777;18498421;18450961;18006690;17868933;17576097;17376528;16429482;16338760;16202475;16157481;16124668;15985489;15978554;15070969;12873798;12732338;12609745;12477932;12414876;11854267;11340621;11283317;11076863;10583376;10364220;9527442;9491885;21621370;19383226;19460850;19549926;19847903;19874574;19922146;20003098;20129934;20193740;20305645;20468064;16754659;20116928;20854137;21056546;20655364;20531237;16008971;21071097;20595012;21464433;21186399;21765621;21371780;21823139;21908614;22028875;22207004;21945150;21978722;22302634;21546124;22846875;22575905;23406753;23034387;22696207;23462990 3060 O43612 ABBA01006434;AC099811;AF041240;AF118885;AMYH01008391;CH471152;NG_011448;NM_001524 AAC39600;AAD24459;AAI11916;EAW60810;NP_001515;O43612 Hs.158348 5492465;5492911 UniSTS:481182;UniSTS:483216 NRCLP1;OX;PPOX orexin;prepro-orexin APPROVED protein-coding ENSG00000161610 4847 03836 161400;602358 REVIEWED 6481308 HDAC11-AS1 HDAC11 antisense RNA 1 100874101 AC027124 APPROVED miscrna 40868 7241749 HDAC1P1 histone deacetylase 1 pseudogene 1 10 q23.33 95897507 95898758 + 100419595 ABBA01021862;AL389885;AMYH01002964;NG_025534 pseudo 45190 INFERRED 7241616 HDAC1P2 histone deacetylase 1 pseudogene 2 100419489 ABBA01048073;AC096640;AL592406;AMYH01001743;NG_027210 pseudo 45191 INFERRED 1351591 HCRTR2 hypocretin (orexin) receptor 2 The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009] 6 6 p12 55147028 55255377 + 55039071 55147418 + 728644;1580863;1642020;1642016;6480464 9491897;12890892;17299454 22389503;19086053;19058789;18714784;18599270;18399985;17883525;17645762;17563843;17376114;16554494;15978554;15797953;15477554;15274044;15070969;12477932;11830291;11723285;11600545;11549701;11443222;11340621;11297593;11283317;11158046;11076863;10981966;10973318;9527442;9491885;9419374;19913121;20628086;19751316;20041166;20156195;20468064;21510948;16754659;20538960;21071097;21186399;21378163;21666548;23482607;23034387 3062 O43614;Q548Y0 ABBA01050507;AF041245;AF202085;AF202086;AF202087;AF202088;AF202089;AF202090;AF202091;AK307819;AK314279;AL449104;AL591718;AMYH01016362;AY062031;BC035858;CH471081;EF633107;EF633108;EF633109;EF633110;KC812499;NG_012447;NM_001526 AAC39602;AAG28021;AAI11377;AAL47215;ABR23648;ABR23649;ABR23650;ABR23651;AGP04116;BAG36939;EAX04440;NP_001517;O43614 Hs.151624;Hs.699147 1337791;1726351;1777470;7183728 D6S294;G62476;SHGC-58112 OX2R OTTHUMP00000017762;hypocretin receptor type 2;orexin receptor type 2;orexin type-2 receptor;ox-2-R;ox2-R APPROVED protein-coding ENSG00000137252 4849 08374 602393 REVIEWED 734418 HCRTR1 hypocretin (orexin) receptor 1 The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009] 1 1 p33 31857228 31865301 + 32083301 32092919 + 728644;1580863;1642020;1642016;6480464 9491897;12890892;17299454 22389503;19464259;19118115;19086053;19058789;18714784;18450961;18198212;17999203;17089135;16344560;16282319;16157481;15978554;15797953;15611118;15070969;12690115;12477932;11856342;11723285;11443222;11340621;11283317;10973318;9527442;9491885;9419374;21378163;19661287;20002100;20398908;20468064;16754659;20621130;21071097;20728215;21510948;21666548;21908614;21318258;22028875;21344296;22550093;23034387 3061 A6NMV7;O43613 ABBA01023454;AC114488;AF041243;AF202084;AK290521;AMYH01000460;AY062030;AY070269;BC035686;BC074796;CH471059;CO960455;DA803650;NM_001525 AAC39601;AAG28020;AAH74796;AAL47214;AAL50221;BAF83210;EAX07600;EAX07601;EAX07602;NP_001516;O43613 Hs.388226 2185109 SHGC-74525 OX1R OTTHUMP00000003951;OTTHUMP00000003952;hypocretin receptor 1;hypocretin receptor type 1;hypocretin receptor-1;orexin receptor 1;orexin receptor type 1;orexin receptor-1;ox-1-R;ox1-R APPROVED protein-coding ENSG00000121764 4848 03863 602392 REVIEWED 1350033 HCST hematopoietic cell signal transducer This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.1 41085222 41087013 + 36393382 36395173 + 1580863;6480464 12975309;22438812;19329438;19075187;16339517;15048706;12740575;12477932;12426565;12426564;11398969;11239445;11015446;10528161;10426994;21263069;21789015;21706044;21816829;19322201;22505724 10870 Q9UBK5 ABBA01018772;AD000864;AF072844;AF072845;AF122904;AF172929;AF285447;AL050163;AMYH01009736;AY359058;BC035931;BC046348;BC065224;NG_009304;NM_001007469;NM_014266 AAD46986;AAD46987;AAD47911;AAD50293;AAG29425;AAH35931;AAH46348;AAH65224;AAQ89417;CAB43303;NP_001007470;NP_055081;Q9UBK5 Hs.117339 1739661;2139518;5092814 A006G29;D19S844E;G32347 DAP10;DKFZP586C1522;KAP10;PIK3AP DNAX-activation protein 10;OTTHUMP00000045811;hematopoietic cell signal transducer;kinase assoc pro of ~10kDa;kinase assoc protein;membrane protein DAP10;phosphoinositide-3-kinase adaptor protein;transmembrane adapter protein KAP10 APPROVED protein-coding ENSG00000126264 16977 04971 604089 REVIEWED 1314168 HDAC10 histone deacetylase 10 The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 22 22 q13.31 49025739 49031941 - 50683612 50689834 - 1580863;6480464 8889548;11861901;11677242;17892858;15489334;15461802;15305372;14759258;12477932;11739383;11726666;10591208;14578343;21247901;20680488;17172643;20032463;20471694;19913121;20628086;14670976;22505724;22989952 83933 C9J8B8;Q08AP5;Q969S8 ABBA01011379;ABBA01011380;AF393962;AF407272;AF407273;AF426160;AL022328;AL512711;AMYH01012897;AMYH01012898;AY450395;BC032049;BC032423;BC094734;BC125082;BC125083;BI916349;BM983038;CA424576;CH471138;CR456465;NG_029758;NM_001159286;NM_032019 AAI25083;AAI25084;AAK84023;AAK92205;AAK92206;AAL30513;AAS48345;CAC21653;CAG30351;CAK54446;CAK54745;EAW73511;EAW73512;EAW73513;EAW73514;EAW73515;EAW73516;EAW73517;EAW73518;EAW73519;EAW73520;NP_001152758;NP_114408;Q969S8 Hs.26593 1677802;2155175 RH65991;WI-14130 DKFZp761B039;HD10;MGC149722 OTTHUMP00000042162;OTTHUMP00000196674;OTTHUMP00000196675;OTTHUMP00000197621;histone deacetylase 10 APPROVED protein-coding ENSG00000100429 18128 09407 608544 REVIEWED 1323302 HDAC11 histone deacetylase 11 This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] 3 3 p25.1 13496824 13521834 + 13521715 13547924 + 1580863;6480464 11948178;12711221;11256614;19276081;19088734;19011628;18413790;17230502;17201809;16381901;16344560;16142391;16121216;15489336;15489334;14702039;12477932;11076863;16169070;20467334;20980834;21239696;21900206;21906983;22318606;21806350;23000965;23024001;20881960 79885 B5MC52;B5MCQ6;B5MCS3;B5MCU6;B5MCV5;B5MD06;C9J2I7;C9J528;C9JBI4;C9JEC8;C9JMH0;E7ETT9;F5H6R5;F8WF94;Q658J9;Q96DB2 ABBA01025173;AC027124;AK025426;AK025890;AK293223;AK299021;AL137362;AL834223;AMYH01012995;AW291816;BC009676;BG708402;CH471055;CR457341;DB025431;DB556939;NM_001136041;NM_024827 AAH09676;BAB15127;BAB15272;BAG56762;BAG61100;CAB70712;CAG33622;CAH56375;CAL37920;CAL38700;EAW64157;EAW64158;EAW64159;EAW64160;EAW64161;EAW64162;EAW64163;EAW64164;EAW64165;EAW64166;EAW64167;EAW64168;EAW64169;NP_001129513;NP_079103;Q96DB2 Hs.744132 1685429;1776020;2154966 RH92585;SHGC-32699;SHGC-76731 FLJ22237;HD11 OTTHUMP00000160231;OTTHUMP00000197639;OTTHUMP00000197644;OTTHUMP00000197649;OTTHUMP00000208001;OTTHUMP00000209466;OTTHUMP00000226982;histone deacetylase 11 APPROVED protein-coding ENSG00000163517 19086 09146 607226 REVIEWED 1316832 HDAC4 histone deacetylase 4 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008] 2 2 q37.3 239634801 239987580 - 239969864 240322643 - 1580863;6480464;7241019;7240710 21255680 10523670;12711221;19355988;19115247;19071119;19015268;18952052;18850004;18780762;18632985;18614528;18227124;18045992;17975112;17885209;17636017;17610967;17383980;17373667;17360518;17179159;16922677;16767219;16528103;16415175;16166628;16051668;16033423;15829968;15537544;15467736;15324660;15205465;15194749;15184363;15138260;15075374;12943985;12709441;12668657;12590135;12477932;12421765;12242305;12032081;11929873;11804585;11792813;11568182;11509672;11504882;11486037;11474199;11470791;11466315;11463856;11451954;11114197;11114188;11081517;10958686;10944117;10898795;10869435;10825153;10487761;10220385;10206986;9179496;9150131;9139815;9110174;8619474;18691969;11509652;12015313;10640275;10748098;14668799;15778465;11022042;22826225;15619633;19913121;20628086;17283066;17379597;17646162;17910034;17949687;21118993;21464227;11279209;15536134;15743821;15990875;18250163;18332106;18339811;19389706;20691407;16951198;16980613;19013255;20211142;20846395;10983972;12917325;15964851;16147992;16236793;16919237;16955485;17011572;17491593;17696781;19276356;19281832;19509297;19679847;19700647;19716643;19956841;20079608;20097749;20110259;20116378;20159555;20383178;20471694;16332688;16356933;16613856;17158926;17210713;17218271;19893013;20936779;12205093;12535528;12663674;16082198;16204248;16221676;16288017;18501190;18555775;18558095;21242980;10860984;18163532;19950203;21542139;21832049;21837748;15161933;21917920;22318606;22466704;22649097;22693459;23364788;23434587;17470459;23349832;23752268;20301337;21946350;16061479;19322201;21571862;17979178;21988832;22730529;23149916;23444366;23297420;19218564;21148070;23284291;23453885;17371797;19648967;22700976;22989952 9759 C9J0X4;C9J481;F5GX36;F5H0B1;F5H5W4;H7BZT3;H7C397;P56524;Q86YH7 AB006626;ABBA01033515;ABBA01033516;ABBA01033517;ABBA01033518;ABBA01033519;ABBA01033520;ABBA01033521;ABBA01033522;ABBA01033523;ABBA01033524;AC017028;AC062017;AF070607;AF132607;AI199675;AI654062;AK302719;AK303368;AK303467;AK303617;AK308791;AK310488;AK310603;AK311582;AMYH01011610;AMYH01011611;AMYH01011612;BC039904;BQ576173;CH471063;NG_009235;NM_006037 AAD29046;AAH39904;AAX93070;AAX93254;BAA22957;BAH13789;BAH13951;BAH13968;BAH13999;EAW71165;EAW71166;NP_006028;P56524 Hs.20516 1677702;1694746;1716525;1734722;1783938;1788972 D2S1512E;G43575;G65562;RH121548;RH98233;SHGC-112006 AHO3;BDMR;HA6116;HD4;HDAC-4;HDAC-A;HDACA;KIAA0288 OTTHUMP00000164483;histone deacetylase 4;histone deacetylase A APPROVED protein-coding ENSG00000068024 14063 05610 600430;605314 REVIEWED 1351463 HDAC6 histone deacetylase 6 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008] X X p11.23 48545431 48568324 + 48660487 48683380 + 1580863;2306200;6480464 19147762 17389687;22504143;12620231;11861901;18316616;11948178;19596000;19438744;19383825;19344692;19228685;19158084;19036992;19033385;18996840;18794144;18781140;18697214;18671804;18644987;18636984;18606987;18568448;18499657;18413721;18356165;18079183;17851643;17846173;17643370;16964243;16738306;16192271;16148047;15937340;15916966;15806142;15501975;15469820;15467736;15347674;15302935;15102857;14743216;14702039;14670976;12792815;12477932;12391164;12354939;12032081;12024216;11689694;11677242;11474198;10898795;10220385;10048485;9150131;9139815;11533236;21340680;22778253;21900206;19913121;20628086;17604723;20970878;19321449;20029029;12606581;14675537;16919237;17474147;17512543;17588522;18852123;19167333;19744931;19855091;19893491;19910924;20008322;20018896;20102703;20133936;20159555;20308065;15831516;15835920;15937109;15976449;15831498;16951198;18029348;19737819;20181727;18591380;21044318;19961433;22089141;22318606;22334690;22367689;22674379;20696758;20720006;12486003;12535528;12718889;16082198;16186112;16288017;20837465;21076528;21082217;17516032;21220424;21235576;22957056;15171253;19805354;22375943;22955928;21455583;20371724;21949397;21952047;21486957;21562571;20360068;21421902;21847364;21699378;21139048;21284752;21532619;21906983;22069321;22174839;22238643;23010497;23159615;23402884;23487739;22022450;22193721;18781797;21377170;21690293;21988832;21090589;22124372;22492994;20129057;21847094;22384180;22464548;22589388;23152903;22678362;22372633;18247557;20593489;22392728;22792322;23258539;23084749;23181831;22994762;23580651;22936009;23076141;23370327;22766642;22645275;22797925;22952844;22989952;21103663;22967444 10013 A6NDI8;B4DZH6;C9J172;C9JEF4;E7EP63;E7EPS2;E7ER52;E7EUZ1;E9PEH1;H7C0Z9;Q9UBN7 AB020708;ABBA01046064;ABBA01046065;ABBA01046066;ABBA01046067;ABBA01046068;AC231533;AF132609;AF174499;AF196971;AJ011972;AK001543;AK024083;AK095124;AK122954;AK127118;AK131286;AK295884;AK302926;AK303012;AK309058;AL137696;AMYH01022290;BC005872;BC011498;BC013219;BC013737;BC069243;BT006649;CH471224;NG_012560;NM_006044 AAD29048;AAF36540;AAH05872;AAH11498;AAH13737;AAH69243;AAP35295;ADZ15546;BAA74924;BAG50935;BAG51263;BAG52988;BAG53817;BAG54760;BAG58680;BAG64088;BAG64143;CAA09893;CAB70878;EAW50744;EAW50745;EAW50746;EAW50747;EAW50748;NP_006035;Q9UBN7 Hs.6764 1653963;1655978;1850148;2155999;5037552 1916;A002Y02;D8S2279;DXS6992E;WI-8811 FLJ16239;HD6;JM21 OTTHUMP00000032398;OTTHUMP00000197663;histone deacetylase 6 APPROVED protein-coding ENSG00000094631 14064 02228 300272 REVIEWED 1320330 HDAC1 histone deacetylase 1 Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008] 1 1 p34 32530295 32571811 + 32757708 32799224 + 1580863;2306215;2306216;2306200;2306214;2306218;2306205;2306219;2316155;6480464;6484113;6907045 17387270;16172792;19147762;18212746;15590418;18714364;15042618;19450511 11350943;11331609;11319226;11302704;11287668;11285237;11259576;11238932;11226163;11146623;11118440;11102443;11099047;11013263;11006275;10969803;10944117;10933397;10904264;10898795;10888886;10888618;10873456;10840944;10734134;10704340;10688671;10669754;10655483;10615135;10581039;10490602;10487760;10471500;10471499;10444591;10409740;10357820;12466959;12464179;12450794;12426395;12398767;12393750;12374985;12354758;12242670;12202768;12198165;12177302;12176973;12124384;12091390;12087472;12052894;12045192;12032298;12032081;11994312;11960997;11959842;11940654;11931769;11929879;11919195;11909966;11896613;11867749;11855854;11836251;11788710;11749695;11739383;11684023;11641275;11641274;11602581;11568182;11564889;11552981;11532945;11486045;11438660;11430826;11427533;11390640;11062478;11136718;12711221;9150135;8646880;15509593;10777477;10846170;19424621;19416910;19383825;19252524;19182791;19064572;19015268;18850007;18806873;18789002;18765668;18708058;18671804;18644983;18588874;18552382;18408217;18372343;18362831;18347167;18342621;18093978;18037904;18004079;17996965;17961987;17923479;17935135;17910034;17897615;17850504;17786334;17670825;17663720;17609203;17548428;17470557;17395887;17371848;17369852;17239852;17081983;17056544;17022812;17005678;16960727;16914734;16914725;16870149;16569215;16528103;16377629;16374504;16337145;16319923;16287849;16166625;15927959;15829968;15826950;15722551;15668237;15653507;15635413;15592455;15489334;15469820;15467736;15456747;15451426;15361834;15333839;15325272;15316101;15298701;15273251;15235594;15207703;15199155;15194748;15155736;15138260;15077161;15016876;14968110;14691252;14647463;14645718;14645126;14633989;14530259;14506250;13679859;12972430;12947414;12943729;12920132;12890497;12847090;12829790;12821938;12808109;12789259;12724404;12705869;12670868;12665570;12634383;12612053;12590135;12586827;12579268;12567184;12493763;12482978;12477932;10220405;10199400;9804427;9790534;9724731;9722949;9694793;9651585;9650586;9627120;9520398;9491888;9468140;9468139;9371597;9150134;9150133;8602529;8602525;8289393;8125298;7760804;16838299;17934516;18206970;10611298;12788099;11784859;9765306;22180294;16407974;11470869;11171972;10220385;10779361;14637159;11101889;12198164;11022042;10995736;11533236;12015313;11266540;11931768;10640275;12015309;16169070;11238380;11804585;11777905;11466315;15148359;10545197;12242305;12183469;12393887;11756549;12665568;12150997;9346952;14668799;15388328;15710329;11447271;15711539;15120635;15688037;15775975;15619633;15735762;15674334;14506733;9486654;12419806;19218564;19505873;19995069;21148070;21252314;20400511;14699069;14722073;15919722;17318229;17389244;17412698;17452459;17487425;17620012;17630394;17634443;17636019;17643391;17906119;17922035;17932104;17938259;17967891;17980157;21423269;21301206;20415600;20498639;20049841;20398369;20731616;17245431;17353261;20360311;20385359;20388487;21454521;15615716;15640443;15831498;16865259;16963455;16964284;16982778;17000776;17008050;17074803;18029348;18851995;18936100;18948152;19011633;19029947;19041848;19561196;19617623;19729656;19738286;19759913;19793920;19800870;19819974;10983972;11863372;12371150;12473678;12529400;12711603;12904571;14593184;14678988;14752048;15060175;15140878;15173318;15899845;15970276;16197452;16306601;16331260;16387653;16464847;16511565;16540471;16565076;16728974;16762839;16766265;16919237;16959611;17158748;17172643;17255935;17353187;17468742;17540176;17827154;18156491;18172012;18316616;18326024;18850004;18854353;19049980;19081374;19099586;19124609;19339282;19339613;19343227;19438744;19497860;19503603;19531758;19561124;19581286;19644445;19683447;19686092;19740981;19801684;19802013;19819149;19822520;19828482;19855430;19912635;20037577;20081843;20144149;20154723;20379614;11553631;21123453;20609223;18822204;20438716;14559791;14612411;14670976;14673164;16428440;16478997;16481466;16483679;16611996;16630892;16645043;16649994;16651408;16652147;16697957;16699503;16728531;16734381;16738318;16787918;16820529;18619497;18634613;18644863;18722353;19061646;19351825;19394292;19433865;19454010;20967026;20802485;16107876;17182846;19062177;19070599;19081376;19101520;19235719;19244234;20001970;20022962;20478393;11839806;11850410;11865059;11884454;12082639;12192000;12200149;12370815;12435627;12453419;12535528;12574125;12659862;12697811;12730668;16079794;16082198;16085498;16091750;16121030;16140033;16186112;16195230;16204234;16204248;16288017;16288053;18501190;21059642;20702731;21108932;17273746;17304221;17311813;17312152;17573780;20473547;20484017;21176959;16407282;20331966;20332121;20562920;20585571;20590529;20596014;20603076;20633551;21262773;21622623;11158299;11279209;11283259;11283269;11287616;11297506;11306568;11313951;11327722;11517158;11583987;11585818;11593411;15297431;15454082;15454570;15485920;15520282;15528196;15536134;15542849;15557281;15561714;15695521;15701600;15713621;15713622;15713663;15831516;15835920;15870198;15897453;15935060;15987735;16024608;18193082;18241676;18245468;18271930;18333962;18391013;18413351;21143702;21184735;20585871;10049357;10403782;10491605;10521394;10531300;10575014;10737769;10778858;10958676;10958684;11046157;14976551;14981544;14988403;15003538;15044952;15051733;15136563;15192014;18003922;18059533;18067919;18182442;9611234;9753732;9819405;9858615;9988677;21420382;20680269;21106524;20037816;23140481;23752268;21179472;21661415;21455583;21293853;21438903;20072153;20075864;20124407;20127688;20508642;20523938;12700765;14578449;17474147;18451880;19703393;21030595;21045206;21081666;21527555;21952639;9885572;22927334;20561418;21344388;12082111;18585351;18781797;21566081;21566083;21987572;22028823;22100169;16107708;16147992;17314511;17707923;20693977;21127047;21151932;21179169;21617866;16196087;18974119;20821348;20856864;20935208;21974802;21182205;22796363;21725604;22056872;17895379;17962807;19786833;21983014;22266186;22274925;22286234;22325352;22393235;22416134;22496786;22498736;22542627;20972266;21139048;21532573;21549307;21565167;21693764;21890473;21906983;21957129;22116549;22143567;22242125;22113938;22439931;22778253;22982681;23000965;23217559;23362263;10228159;16481475;19166851;19738201;21258344;21963094;21988832;22053931;21466904;21972094;10499802;17373667;22411829;22156779;22344732;22419072;22750444;20464640;21636851;21637537;21638299;21666599;21669397;21670149;21718540;21846774;21982637;21996064;22036763;22037263;22075476;22318606;18439917;21900881;22114073;22222205;19471022;21262769;21502505;21685935;21725353;21907836;21937684;21972143;22211246;17371797;19648967;20185822;22184063;22879913;22939629;23014989;23060449;23104175;22939983;22863883;23022380;23110995;22797919;23185513;10204490;16731528;19581932;20471948;20613874;21669392;22077140;22505724;22822071;22865885;22989952;23011797;18485871;22641068;23246564 3065 F5GXM1;Q13547;Q5TEE2;Q6IT96 AB451297;AB451430;ABBA01023430;ABBA01023431;AK225555;AK296308;AK299241;AK299792;AK313061;AL109945;AMYH01000467;AY627042;BC000301;BX648055;CH471059;CR541717;D50405;NM_004964;U50079 AAC50475;AAH00301;AAT44863;ABM82324;ABM85503;BAA08909;BAG61272;BAG61671;BAG70111;BAG70244;BAH12310;CAG46518;CAI46269;EAX07540;EAX07541;NP_004955;Q13547 Hs.88556 1682365;1729173;2135303;2182946;2217412;5111530;5113605 HDAC1_3209;RH48422;RH64844;RH70655;RH77985;RH80765;WI-8367 DKFZp686H12203;GON-10;HD1;RPD3;RPD3L1 OTTHUMP00000008745;histone deacetylase 1;reduced potassium dependency, yeast homolog-like 1 APPROVED protein-coding ENSG00000116478 4852 03143 601241 REVIEWED 1604649 HDAC5 histone deacetylase 5 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21 39509647 39556540 - 42154121 42201014 - 6480464;7241019 21255680 10640275;11931768;11804585;10748098;12150997;15467736;11567998;12896970;14668799;15367659;15060175;11022042;11466315;15138260;15184363;15619633;15829968;12015313;12711221;10220385;10869435;19071119;18332134;18288090;18218981;18184930;17975112;16236793;16221676;15590418;15491607;15489334;15194749;15146197;14702039;12626519;12477932;12354939;12242305;12168954;12019172;11929873;11509672;11114197;11081517;11018260;10898795;9628581;9610721;11641275;16169070;22301920;21508384;19913121;20628086;17379597;17403666;17873065;17949687;21081666;21413932;10737771;10983972;12007404;12917325;15140878;15964851;16528103;16678093;16919237;18768922;19351956;19666599;19801982;20042720;20188095;16613856;19893013;16166628;16356933;16767219;16822951;18632988;21047791;15831498;16980613;17011572;17075044;18951085;20211142;21048031;20716686;10860984;15111488;11279209;15536134;15546868;15572669;15728188;15831516;15990875;18216015;18245468;18292392;18332106;18339811;21146494;22941650;16147992;18029348;22318606;22649097;22243750;17373667;22730529;23256157;23297420;22991226;22462548;22989952 10014 K7EJL4;K7EJL6;K7EJZ7;K7ES01;Q9UQL6 AB011172;AB177853;ABBA01028387;ABBA01028388;AC023855;AF039691;AF132608;AK027734;AK075095;AK093150;AK294760;AMYH01008410;BC011260;BC013140;BC038423;BC041914;BC051824;BK000028;BM564861;BM998071;CH471178;CN290533;NM_001015053;NM_005474 AAC18040;AAD29047;AAH13140;AAH51824;BAA25526;BAB55329;BAD66831;BAG57895;DAA00017;EAW51633;EAW51634;NP_001015053;NP_005465;Q9UQL6 Hs.438782 1655501;1733460;1856055;2114941;2138474;2217414 D17S1202;D17S1233;G15993;HDAC5_3756;RH47506;WI-16312 FLJ90614;HD5;NY-CO-9 antigen NY-CO-9;histone deacetylase 5 APPROVED protein-coding ENSG00000108840 14068 09246 605315 REVIEWED 1312509 HDAC2 histone deacetylase 2 This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 6 6 q21 114364019 114399047 - 114257320 114292359 - 1580863;2306214;2306215;2306200;2306205;6480464;6484113;6907045 18212746;17387270;19147762;18714364 18439917;21315782;11788710;11779848;11739383;11641274;11532945;11486036;11331609;11302704;11287668;11259576;11171972;11146623;11102443;11022042;11013263;10933397;10904264;10888872;10766745;10669754;10644367;10581039;10545197;10508171;10490602;10471500;10471499;10444591;10357820;10220405;9874765;9804427;9790534;9782097;9722949;9520398;9346952;9150135;9150134;11641275;9016636;16407974;11101889;11784859;9651585;12198550;11062478;12711221;8917507;19155214;19124506;19088080;19064572;19015268;19010907;18950845;18851967;18834886;18708058;18671804;18408217;18347167;18316616;18264134;17935135;17827154;17786334;17322895;17081983;17043312;16951198;16595694;16565220;16464847;15927959;15775975;15665816;15653507;15635413;15489334;15456770;15456747;15451426;15342556;15325272;15146197;15144953;15138260;15120635;15060175;15016876;14702039;14574404;14512427;12975471;12972430;12947414;12943729;12920132;12829790;12788942;12724404;12705869;12682367;12670868;12634383;12586827;12493763;12477932;12419806;12398767;12198164;12176973;12151407;12140263;12138131;12124384;12091390;12082111;12032298;12015313;12007404;11923873;11919195;11867749;11836251;12183469;11238380;12374985;11804585;11777905;11564889;11466315;11533236;12393887;12527756;11756549;12354758;15388328;15467736;15619633;12639951;20714342;18247557;19218564;19505873;19995069;21252314;22492270;20415600;20398369;19913121;20628086;20731616;17287852;17311813;17312152;17546044;17548428;17573780;17604723;20460684;20473547;21317427;21344396;10713181;10777477;12371150;12403844;12626569;12711603;14752048;14966270;15140878;16254079;16387653;16642021;16919237;17468742;18029348;18156491;18172012;18806873;19041327;19099586;19124609;19182791;19276356;19339282;19372552;19383825;19410558;19411311;19416910;19438744;19446037;19497860;19531758;19561124;19644445;19706751;19724929;19740981;19754958;19801684;19802013;19822520;19880520;19881542;19912635;19935709;20071335;20081843;20133912;20178884;20190809;20346000;20467334;19081374;19139378;19244234;17318229;17671180;17967891;17991736;21320471;21383775;17922035;17967884;20421305;15522123;15831498;16963455;19041848;19486889;19561196;19686092;19729656;19759913;19793920;20211142;20972425;20534591;20802485;11850410;11884454;12192000;12402037;12431981;12453419;12567184;12697811;14559791;14559996;14673164;16036112;16079794;16082198;16091750;16204234;16252006;16288017;16288053;16410616;16449650;16469430;16481466;16540471;16800816;16820529;18501190;18625718;18644863;18754010;19061646;19394292;19433865;19454010;21453528;11118440;11279209;11283269;11297506;11395507;11583987;11593423;15297431;15361834;15536134;15561714;15701600;15713621;15713663;15831516;15934135;15935060;15987735;18241676;18245468;18391013;21143702;20585871;10958685;11003653;14749338;14976551;14981544;15051733;18059533;18067919;18073335;18182442;20716118;20398657;21182205;17245431;17250953;17353261;20164337;20331966;20332121;20388487;20596014;20651739;21252119;21576649;20065107;20124407;20127688;20388229;20523938;22798432;22939629;16107708;17314511;17707228;20697349;20833366;21159880;21290163;21937684;21946536;12700765;17474147;19343720;19703393;20360068;21081493;21527555;9885572;22005560;22005302;22079093;18781797;21139048;21532573;21549307;21890473;21906983;21957129;21972094;21987572;22016339;23455922;23499894;23752268;19322201;21540836;21670149;21987499;22156779;22344732;21907836;22132221;22388814;22037263;21685935;21725353;17620599;22214847;22286234;22318606;22325352;22416134;22457607;22493095;22498736;22555612;22586326;20185822;23554474;23110995;15140983;20467438;20972266;21258344;21963094;22113938;22439931;23000965;23195070;23440245;22932408;22932458;18212045;19581932;10204490;20471948;22053931;22505724;22641068 3066 B3KRS5;E5RFI6;E5RFP9;E5RG37;E5RGV4;E5RH52;E5RHE7;E5RJ04;E5RK19;H3BM24;J3KPW7;Q92769 AA704179;AB209190;ABBA01026063;AK092156;AK097376;AK296856;AL590398;AL671967;AMYH01016607;AV719958;BC013141;BC031055;BM550464;BP201509;CH471051;CN304190;CN315003;FO393415;NM_001527;NR_033441;NR_073443;U31814 AAC50814;AAH31055;AAI46377;AAI48798;BAD92427;BAG52487;BAG53457;BAG59420;EAW48252;EAW48253;EAW48254;EAW48255;NP_001518;Q92769 Hs.3352 1691382;2177239;5015861;5022578;5037552;5118576;7185938 D10S16;D11S3430;D1S1423;D8S2279;G42073;STS-N62138 HD2;RPD3;YAF1 OTTHUMP00000017046;OTTHUMP00000227077;OTTHUMP00000227078;YY1-associated factor 1;histone deacetylase 2;transcriptional regulator homolog RPD3 APPROVED protein-coding ENSG00000196591 4853 05521 605164 REVIEWED 1344478 HDAC8 histone deacetylase 8 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] X X q13 71466091 71709378 - 71549366 71792953 - 1580863;6480464;7240710 12711221;10748112;19355988;19118036;19070599;19053282;18256683;17786334;17721440;16809764;16681389;15772115;15590418;15477595;14701748;14684825;12509458;12477932;11533236;10926844;10922473;10756090;14578343;22318606;19913121;20628086;15342556;20029090;20545365;8889548;19140693;20484414;21455583;22889856;23482931;23752268;21790156;23111066;21139048;21499270;21890473;21906983;12082111;22046129;22391568;20301283;22885700 55869 A6NFW1;A6NGJ7;A6NGT0;A6NMT1;B4DQE7;C9J8F0;E7ENE4;E7EVA8;E7EW22;F8WCG4;F8WDK0;Q86VC8 ABBA01046219;ABBA01046220;ABBA01046221;ABBA01046222;ABBA01046223;ABBA01046224;ABBA01046225;ABBA01046226;ABBA01046227;ABBA01046228;ABBA01046229;ABBA01046230;ABBA01046231;ABBA01046232;ABBA01046233;ABBA01046234;ABBA01046235;ABBA01046236;ABBA01046237;ABBA01046238;ABBA01046239;ABBA01046240;ABBA01046241;ABBA01046242;ABBA01046243;ABBA01046244;AF212246;AF230097;AF245664;AI651236;AI916593;AJ277724;AK074326;AK294903;AK296641;AK298767;AK300895;AL133500;AMYH01022553;AMYH01022554;AMYH01022555;AY429539;BC050433;BF514915;BP229332;BQ189619;BQ632790;BX295542;CH471213;DC352390;NG_015851;NM_001166418;NM_001166419;NM_001166420;NM_001166422;NM_001166448;NM_018486;NR_051952 AAF73076;AAF73428;AAH50433;AAK14930;ABZ92351;ACE87811;ACT64512;BAG57992;BAG59242;BAG60909;BAG62534;CAB90213;EAW71821;EAW71822;EAW71823;EAW71824;NP_001159890;NP_001159891;NP_001159892;NP_001159894;NP_001159920;NP_060956;Q9BY41 Hs.310536 1687433;1701788;1702024;1702356;1714833;1767961;1777100;1853541;2119452;2171283;5093800 A009W47;DXS1163;DXS1377;DXS7027E;G30088;G32931;L77829;RH120411;RH16247;RH93559;SGC34789 CDA07;CDLS5;HD8;HDACL1;MRXS6;RPD3;WTS OTTHUMP00000023539;OTTHUMP00000023540;OTTHUMP00000023541;OTTHUMP00000023542;OTTHUMP00000023543;OTTHUMP00000023544;OTTHUMP00000023545;OTTHUMP00000023546;OTTHUMP00000023549;histone deacetylase 8;histone deacetylase-like 1 APPROVED protein-coding ENSG00000147099 13315 02227 300269;300882;309585 REVIEWED 731326 HDAC3 histone deacetylase 3 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008] 5 5 q31 140980627 140996607 - 141000443 141016423 - 1580863;2306215;2306214;2306205;6480464 17387270;18212746;18714364 19995069;22647876;18439917;22337871;22363205;12711221;10777477;19453261;19341714;19121623;19032343;19015268;18832068;18789002;18769117;18542060;18523274;18403372;18347167;18326024;18097041;17956871;17925399;17908689;17849419;17786334;17675290;17158926;17101790;17008592;17007107;16980585;16849648;16730330;16712523;16569215;16528103;16432238;16298343;16249187;16129885;16033423;16022908;15927959;15917248;15805470;15761026;15653507;15572445;15561719;15489334;15469820;15356147;15333839;15297880;15292260;15184363;14684825;14525983;14521922;12972430;12943985;12861000;12590135;12502735;12479814;12477932;12419806;12393887;12242670;12239342;12150997;12048199;12032081;11931768;11923873;11867749;11867539;12853483;12628926;11861901;11804585;11788710;11779848;11777905;11641275;11641274;11567998;11533489;11509652;11470869;11466315;11463856;11302704;11259576;11013263;11006275;10944117;10898795;10860984;10809664;10669754;10655483;10581039;10575214;10490602;10220385;10051405;9722949;9501169;9464271;9360932;9346952;18655026;11486036;11533236;14527417;12015313;10869435;15558026;14668799;17353931;15467736;11022042;15711539;15619633;15494311;10983972;11889044;12371150;12403844;15016912;15140878;16917504;16919237;16924111;16987993;17053781;17172643;17255935;17970752;18585351;18854353;19099586;19855430;19912635;19956841;20026773;20200160;20471694;20473547;20049841;17141982;17182846;17227585;19081374;19204783;19244234;19279113;20563766;20415600;12205093;12535528;16055724;16186112;16195251;16204234;16227606;16288017;18483244;18558095;21059642;15831498;16371367;16481466;16532030;16652147;16820529;16847267;16865259;16943425;17075044;17079677;18619497;18667423;18940814;18948102;19463978;19583777;19738286;20211142;21030595;20731616;11439334;15713663;15831516;15832170;15835920;15837933;18202150;18241676;18245468;18321663;18377363;21143702;15601853;21884981;10958676;11046157;15051733;15192014;22455388;22796363;14722073;17273746;17311813;17620012;17621263;17699109;17873065;17910034;20484017;21179472;21206745;21324898;21453528;17242407;17245431;20385135;20691163;20705923;20534529;20547759;23079660;17015477;17126328;22939629;21346816;21444723;21139048;21532573;21549311;22116549;17895379;21868449;22294699;22318606;22508987;22649097;22230954;21081666;21081493;21527249;21972094;22027828;16481475;18037959;21258344;22730529;23395002;21262769;22002311;21624135;21637537;21670149;21685935;22349439;22641068;16469706;22190034;22190037;22651256;22685561;22797925;22989952;22763818 8841 E7ESJ6;E7EW19;E7EWI8;O15379 ABBA01026405;ABBA01026406;ABBA01026407;AC008781;AF005482;AF039703;AF053137;AF053138;AF053139;AF059650;AMYH01015661;AY429537;AY429538;BC000614;BM461585;CH471062;DB456387;NG_029678;NM_003883;U66914;U75696;U75697 AAB87752;AAB88240;AAB88241;AAC08351;AAC08352;AAC26509;AAC52038;AAC98927;AAH00614;ABM82842;ABM86027;EAW61915;EAW61916;EAW61917;EAW61918;NP_003874;O15379 Hs.519632 1666713;1770166;1797678;2159368;2164114 A007C33;HDAC3_1724;HSC11A022;SGC30748;SGC33638 HD3;RPD3;RPD3-2 OTTHUMP00000160029;SMAP45;histone deacetylase 3 APPROVED protein-coding ENSG00000171720 4854 08950 605166 REVIEWED 1316830 HDDC2 HD domain containing 2 6 6 6 q13-q24.3 126341534 126368320 - 125638195 125664981 - 125596496 125623282 - 6480464 15342556;12477932;10810093;20877624;21139048;22190034 51020 Q7Z4H3 ABBA01025954;AF151888;AF529363;AL121938;AMYH01016645;BC001671;BC003357;BC061520;BC066332;BE743302;BP257644;CH471051;DB447428;NM_016063 AAD34125;AAH01671;AAH03357;AAH66332;AAQ09597;EAW48136;EAW48137;EAW48138;EAW48139;EAW48140;EAW48141;NP_057147;Q7Z4H3 Hs.32826 1645071;2150750;2155797 RH46850;SHGC-64101;WI-15129 C6orf74;CGI-130;MGC87330;NS5ATP2;dJ167O5.2 HCV NS5A-transactivated protein 2;HD domain-containing protein 2;OTTHUMP00000017137;hepatitis C virus NS5A-transactivated protein 2 protein-coding ENSG00000111906 21078 12897 VALIDATED 1347851 HDGFP1 hepatoma-derived growth factor pseudogene 1 X X X q25 131167077 131168674 + 130608230 130610027 + 130780649 130782246 + 6480464 474167 ABBA01042145;AL109853;AMYH01022982;NG_004722 1777367;1781482 SHGC-132399;SHGC-2664 HDGFP APPROVED pseudo 31836 INFERRED 1349346 HDAC7 histone deacetylase 7 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q13.1 46462772 46499924 - 48176505 48213763 - 708314;1580863;6480464;6484113 10640276 19355988;19240061;18625722;18617643;18509061;18506539;18463162;18458084;18339811;18285338;17997710;17947801;16980613;16860317;16541075;15738054;15623513;15489334;15364908;15324660;15302935;15280364;15166223;12753745;12711221;12551922;12477932;12239305;14702039;12970571;11929873;11466315;11262386;10922406;8125298;12015313;15778465;17373667;19913121;20628086;21324898;18029348;16956611;17360565;19351956;19784544;19917725;19966789;20224040;16980305;19029091;19738286;21048031;17379597;17827213;17873065;17962809;21120446;11279209;17369396;20590529;20693714;15161933;21139048;21890473;22584896;22318606;21836063;22172637;21148070;22155184;17979178;23000965;23128233;23251661;23263486;23401860 51564 C9J102;C9JAH2;C9JBC2;C9JEB6;C9JF80;C9JGF5;C9JH46;C9JKN3;C9JNI4;C9JS90;C9JVZ1;C9JZ79;F8VWY3;H0YH91;H0YHJ5;H0YI15;H0YI41;J3KPH8;Q96K01 ABBA01031468;ABBA01031469;ABBA01031470;ABBA01031471;AC004466;AF239243;AK001032;AK001190;AK024387;AK024469;AK026767;AK027781;AK122588;AK128383;AK225910;AK299292;AK301545;AK303481;AK309547;AL117455;AMYH01004427;AMYH01004428;AY302468;AY321367;BC006453;BC020505;BC064840;BT009771;CH471111;DC376749;NM_001098416;NM_015401 AAF63491;AAH06453;AAH20505;AAH64840;AAP84704;AAP88773;AAQ18232;BAA91474;BAA91545;BAB15546;BAB15759;BAB55363;BAC56929;BAG54670;BAG61307;BAG63042;BAG64517;CAB55935;EAW57952;EAW57953;EAW57954;EAW57955;EAW57956;EAW57957;EAW57958;NP_001091886;NP_056216;Q8WUI4 Hs.200063 1681925;1776098;1789078;2158922;2173107;2173815;2184291;2191667;5016352;5037552 D8S2279;G65674;L30021;MARC_4297-4298:996679522:1;RH93449;SHGC-30216;SHGC-63529;STS-R00262;WI-14839;WI-18194 DKFZp586J0917;FLJ99588;HD7A;HDAC7A HD7;OTTHUMP00000202813;OTTHUMP00000202814;OTTHUMP00000202819;OTTHUMP00000202823;OTTHUMP00000241948;OTTHUMP00000241949;histone deacetylase 7;histone deacetylase 7A APPROVED protein-coding ENSG00000061273 14067 09133 606542 REVIEWED 1344578 HDGFL1 hepatoma derived growth factor-like 1 6 6 6 p22.3 23803036 23804108 + 22677657 22678729 + 22569678 22570750 + 6480464 16344560;14702039;20509080 154150 Q5TGJ6 ABBA01022300;AK056824;AL033539;AMYH01016143;CD358518;CH471087;DB020205;HC007252;HC044527;NM_138574 AAI72324;BAB71292;CBH19431;CBH30593;EAW55436;NP_612641;Q5TGJ6 Hs.629246 1690177;5493631 RH93122;UniSTS:489993 PWWP1;dJ309H15.1 HDGF (hepatoma-derived growth factor) like;OTTHUMP00000017836;PWWP domain-containing protein 1;hepatoma-derived growth factor-like protein 1 protein-coding ENSG00000112273 21095 17935 PROVISIONAL 736253 HDC histidine decarboxylase This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010] 15 15 q21-q22 48321436 48345218 - 50534144 50558162 - 1580863;704404;5143921;5143920;5143922;6480464;5128884;6907045 15054596;17158962;14556983;20608921 1487235;19156168;19133005;17672918;16919600;16849647;16822545;16760908;16344560;16297195;22767596;15928846;15167966;14670968;12768436;12679420;12477932;12372397;12371609;12020851;11566179;11556524;11411619;11380149;10785554;10350177;10224444;9865502;9654597;8786082;8288622;7851890;2216786;1768863;1425659;17703412;19258923;19266161;20379614;20445167;20503287;21454364;22095709;21873469;22684068;21915437 3067 B7ZM01;H0YLD6;H0YLF0;P19113 ABBA01039117;AC009753;AC022087;AK027221;AK308833;AK310479;AK311072;AL041199;AMYH01006636;BC130527;BC144173;CH471082;D16583;DA916790;M60445;NG_027487;NM_002112;X54297 AAC41698;AAI30528;AAI44174;ADR83232;BAA04015;CAA38196;EAW77387;NP_002103;P19113 Hs.1481 1795968;2120698;2152265;2179095 D15S1162;D15S943;HDC_123;RH69151 MGC163399 OTTHUMP00000162415;histidine decarboxylase 2289561 BW440_H APPROVED protein-coding ENSG00000140287 4855 00817 142704 REVIEWED 1354012 HDHD1P1 haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 1 Y Y Y q11.221 4471322 4473276 - 15994778 15996732 - 17485384 17487338 - 9847074;1284467 327658 ABBA01057045;AC006998;NG_002612 1781350;2188463;2188471;2188475;2188491;2188497 G64728;G66425;G66429;G66431;G66440;G66444 FAM16AY;HDHD1BP APPROVED pseudo 20200 INFERRED 1347832 HDHD1P2 haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 2 1 1 1 q21.3 125210317 125212327 - 150362264 150364310 - 152095636 152097646 - 1284467 327659 ABBA01049410;AL589986;AMYH01001395;NG_002613 FAM16B;HDHD1CP APPROVED pseudo 20195 INFERRED 1606489 HDGFRP2 hepatoma-derived growth factor-related protein 2 This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. Two alternatively spliced transcript variants encoding slightly different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4410462 4440415 + 4423255 4453223 + 4472255 4502223 + 6480464 17353931;16337983;14702039;12975309;12477932;9299445;15797927;22863883;21890473;17620599;21044950;21720545;22113938;23000965;23046603 84717 Q59H67;Q7Z4V5 AB208892;ABBA01056065;ABBA01056066;ABBA01056067;ABBA01056068;ABBA01056069;ABBA01056070;AC011498;AF294267;AK027353;AMYH01009335;AMYH01009336;AY358600;BC000755;BC009449;BE745571;BI826321;BI905780;BM147540;CH471139;NM_001001520;NM_032631 AAH00755;AAH09449;AAP97281;AAQ88963;ABM83101;ABM86296;BAD92129;EAW69215;EAW69216;NP_001001520;NP_116020;Q7Z4V5 Hs.43071 1686951;1691030;5015619;5022578;5024039 D11S3114;D16S325;D1S1423;RH80135;RH91513 HDGF2;MGC2641 HDGF-2;HRP-2;hepatoma-derived growth factor 2;hepatoma-derived growth factor-related protein 2 APPROVED protein-coding ENSG00000167674 13639 REVIEWED 1353912 HDAC9 histone deacetylase 9 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] 7 7 p21.1 18501894 19003518 + 18126572 19036993 + 1580863;6480464 18549475;12711221;18438919;17980413;17360565;17081983;16980305;16611996;16399788;15567413;15489334;15194749;14702039;14684825;12853948;12706107;12590135;12477932;12242305;12054582;12032081;11535832;11466315;11022042;10922406;10825153;10655483;10487761;10487760;9872452;9847074;11486045;10748098;11959865;14506250;15060175;15711539;10523670;19913121;20628086;19893013;20936779;15623513;15738054;15964851;18332106;20203086;20596014;19303849;19351956;19522008;19723072;20031566;20298200;20379614;15138260;16356933;20947501;20211142;20844743;16288017;21078662;17403666;21247901;16147992;17301242;21247904;15166223;19624894;21708950;21173110;21987446;22306652;22318606;22647378;22693459;20361981;22032556;21806350;22884548;23297420;23288173;23449258;23041239;23251661;23393555;22487525 9734 B5MCF1;B7Z3P7;C9IZS0;C9J1W4;C9J835;C9JD56;C9JLX1;F8W9E0;F8WDS2 AA405905;AACC02000007;AB018287;ABBA01056649;ABBA01056650;ABBA01056651;ABBA01056652;ABBA01056653;AC002088;AC002124;AC002410;AC002433;AC004744;AC004994;AC005249;AC010082;AC074193;AC091697;AF124924;AJ459808;AK095820;AK097178;AK296214;AK297404;AK304298;AK304343;AK304410;AK316109;AMYH01017097;AY032737;AY032738;AY197371;AY429540;BC111735;BC150328;BC152405;CH236948;CH471073;CR749550;DC369193;NG_023250;NM_001204144;NM_001204145;NM_001204146;NM_001204147;NM_001204148;NM_014707;NM_058176;NM_178423;NM_178425 AAC78618;AAD15364;AAF04254;AAI11736;AAI50329;AAI52406;AAK66821;AAK66822;AAO27363;AAS07401;AAS07402;AAS07409;AAS07422;AAS07423;AAS07424;ACE86817;ACE86818;ACE87504;BAA34464;BAC04630;BAC04971;BAH12283;BAH12570;BAH14153;BAH14164;BAH14176;BAH14480;CAD30851;CAH18349;EAW93701;EAW93702;EAW93703;EAW93704;EAW93705;EAW93706;EAW93707;EAW93708;EAW93709;EAW93710;NP_001191073;NP_001191074;NP_001191075;NP_001191076;NP_001191077;NP_055522;NP_478056;NP_848510;NP_848512;Q9UKV0 Hs.196054 1335331;1336938;1657901;1664563;1691516;1696662;1716817;1716845;1718715;1724987;1754659;1774148;1853539;2121889;2145033;2171883;2180906;7184466;7186779;7186824 AFM218ZB2;D7S2532;D7S638;D7S778;G42155;G61734;GDB:1317612;GDB:1318450;RH121703;RH121716;RH124026;RH69484;RH70470;SHGC-133016;SHGC-59902;SHGC-82969;STS-N24887 DKFZp779K1053;HD7;HD7b;HD9;HDAC;HDAC7;HDAC7B;HDAC9B;HDAC9FL;HDRP;KIAA0744;MITR MEF-2 interacting transcription repressor (MITR) protein;MEF2-interacting transcription repressor MITR;OTTHUMP00000201766;OTTHUMP00000201767;OTTHUMP00000201768;OTTHUMP00000201895;OTTHUMP00000201926;OTTHUMP00000201927;OTTHUMP00000225210;OTTHUMP00000225211;OTTHUMP00000225262;OTTHUMP00000231731;histone deacetylase 4/5-related protein;histone deacetylase 7;histone deacetylase 7B;histone deacetylase 9;histone deacetylase-related protein APPROVED protein-coding ENSG00000048052 14065 05944 606543 REVIEWED 1606390 HDDC3 HD domain containing 3 15 15 15 q26.1 67883353 67884972 - 89275159 89276778 - 91474155 91475774 - 6480464 16572171;16189514;15489334;14702039;12477932;17207965;20818390;21832049;21890473 374659 H0YKT9;H0YNP9;Q8N4P3 ABBA01053071;AC068831;AK057584;AMYH01006924;BC033794;CH471101;NM_198527 AAH33794;ADQ32799;EAX02125;EAX02126;NP_940929;Q8N4P3 Hs.349979 1740613 D15S1152 MESH1;MGC45386 (ppGpp)ase;HD domain-containing protein 3;OTTHUMP00000180560;OTTHUMP00000180561;guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1;metazoan SpoT homolog 1;metazoan SpoT homolog-1;penta-phosphate guanosine-3'-pyrophosphohydrolase protein-coding ENSG00000184508 30522 14635 PROVISIONAL 735331 HDGF hepatoma-derived growth factor This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. This gene was thought initially to be located on chromosome X, however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 q21-q23 154978526 154988160 - 156711899 156722240 - 1580863;6480464 7929202;19144156;18651222;18331345;17974029;17487837;17473954;17062679;16344560;15560738;15489334;15146197;15017145;14751852;14702039;14535987;12972397;12477932;11751870;8833162;15870924;19924574;19432814;17620012;20846397;21255068;22006999;15761153;16710414;18478933;19162039;19710540;20211142;21302807;20848225;22863883;21426662;20946988;22331796;21139048;21693764;21890473;21906983;21110914;21907836;22037800;17081983;22247069;22361040;21988832;23000965;23305559 3068 A8K8G0;P51858 ABBA01016645;ABBA01016646;ABBA01016647;AK096411;AK292325;AK298342;AK304468;AK315514;AL590666;AL833592;AMYH01001438;AMYH01001439;AU131311;BC018991;CH471121;CN392158;CN396181;D16431;DA207052;DA367806;DR159090;F36780;NM_001126050;NM_001126051;NM_004494 AAH18991;ABM84332;ABM87723;BAA03903;BAF85014;BAG37895;BAG53283;BAH12761;BAH14194;EAW52910;EAW52911;EAW52912;NP_001119522;NP_001119523;NP_004485;P51858 Hs.743948 1670958;1754049;1777367;1781482;1849422;2130503 RH11678;RH17641;SHGC-12542;SHGC-132090;SHGC-132399;SHGC-2664 DKFZp686J1764;FLJ96580;HMG1L2 HMG-1L2;OTTHUMP00000038721;OTTHUMP00000038722;OTTHUMP00000038723;hepatoma-derived growth factor;high mobility group protein 1-like 2;high-mobility group protein 1-like APPROVED protein-coding ENSG00000143321 4856 02079 600339 REVIEWED 1344399 HDHD1 haloacid dehalogenase-like hydrolase domain containing 1 This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] X X X p22.32 11193070 11292376 - 6976961 7076189 - 6966961 7066231 - 1580863;6480464 16344560;15489334;12477932;11337467;8125298;1734713;1284467;9055824;20722631 8226 E7EVH9;Q08623 AA262524;ABBA01029204;ABBA01029205;ABBA01029206;ABBA01029207;ABBA01029208;ABBA01029209;ABBA01029210;ABBA01029211;ABBA01029212;AC073583;AK223405;AK300740;AK300985;AK307088;AK313155;AMYH01022057;AU099056;AU141098;BC012494;BE019082;BG419948;CH471074;DA653367;DC388394;DR156836;M86934;NG_021256;NM_001135565;NM_001178135;NM_001178136;NM_012080 AAA58622;AAH12494;BAD97125;BAG35973;BAG62605;BAH13339;EAW98746;EAW98747;EAW98748;NP_001129037;NP_001171606;NP_001171607;NP_036212;Q08623 Hs.185910 1338810;1666564;1725787;1740319;1773513;1850944;2142204;5022792;5119925 D1S1163;DXS7967;DXS9742;G62133;GDB:187813;HDHD1A;RH1709;RH68074;STS-H73061 DXF68S1E;FAM16AX;GS1;HDHD1A 5'-PsiMPase;OTTHUMP00000022867;OTTHUMP00000225775;OTTHUMP00000225776;OTTHUMP00000225777;family with sequence similarity 16, member A, X-linked;haloacid dehalogenase-like hydrolase domain containing 1A;haloacid dehalogenase-like hydrolase domain-containing protein 1;haloacid dehalogenase-like hydrolase domain-containing protein 1A;pseudouridine-5'-monophosphatase APPROVED protein-coding ENSG00000130021 16818 02383 306480 REVIEWED 1349697 HDLCQ1 high density lipoprotein cholesterol level QTL 1 7240710 11743583 192144 1357243 D9S925 30996 1606795 HDGFRP3 hepatoma-derived growth factor, related protein 3 15 15 15 q25.2 60710975 60780401 + 81597820 81667325 - 83806804 83876770 - 6480464 10581169;15761153;15489334;15371438;14702039;12477932;10810093;16337983;19237540;21890473;21044950;18029348 50810 Q9UMB4;Q9Y3E1 AA725615;AB029156;ABBA01029434;ABBA01029435;ABBA01029436;AC024270;AC103876;AF110642;AF151900;AK001280;AL109689;AMYH01006858;AMYH01006859;BC015483;BC040554;CH471188;NM_016073 AAD34137;AAH15483;AAM27001;ADZ15815;BAA90477;BAA91597;CAB52021;EAW62425;EAW62426;EAW62427;NP_057157;Q9Y3E1 Hs.513954 1857619;2175920;2179038 RH47317;SHGC-35969;STS-AA035142 CGI-142;HDGF-2;HDGF2;HRP-3 HDGF-2;HRP-3;hepatoma-derived growth factor 2;hepatoma-derived growth factor-related protein 3 protein-coding ENSG00000166503 17096 VALIDATED 1351910 HDHD3 haloacid dehalogenase-like hydrolase domain containing 3 9 9 9 q32 86783309 86785952 - 115175519 115178162 - 116135698 116138341 - 737633;1580863;6480464 12477932 16189514;14702039;19060904;21906983 81932 Q9BSH5 ABBA01042687;AJ420424;AK097067;AK315401;AL137066;AMYH01021669;BC005048;BC031878;CH471090;NM_031219 AAH05048;AAH31878;BAG37794;BAG53418;EAW87375;EAW87376;EAW87377;EAW87378;NP_112496;Q9BSH5 Hs.7739 1682211;1774984;2150704 D9S1692;D9S1759;RH91367 2810435D12Rik;C9orf158;MGC12904 OTTHUMP00000021956;haloacid dehalogenase-like hydrolase domain-containing protein 3 protein-coding ENSG00000119431 28171 13641 PROVISIONAL 2947562 HDHD1P3 haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 3 20 20 20 q11.21 28389203 28389877 - 31098984 31099661 - 31635326 31636000 - 391242 ABBA01019245;AL121756;AMYH01011852;NG_021980 HDHD1DP APPROVED pseudo 38118 INFERRED 1348609 HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 18 18 18 q21.1 41484304 41527393 - 42887779 42930869 - 44633781 44676871 - 737633;1580863;6480464 12477932 16381901;15489336;14702039;11230166;11076863;8125298;16169070;22939629;21139048;21890473 84064 K7EJQ8;K7EKX8;K7EMY7;K7EQD2;K7ER15;Q9H0R4 ABBA01018616;AC012254;AC051635;AK054590;AK292098;AL136681;AMYH01008974;BC011894;BC033031;BC038100;CH471096;CR533487;NM_032124 AAH11894;AAH33031;AAH38100;BAB70768;BAF84787;CAB66616;CAG38518;CAL38357;EAW62905;EAW62906;EAW62907;EAW62908;NP_115500;Q9H0R4 Hs.465041 1706118;1730771;1768207;2114120;2125731;2141908;2146556;7183843;7184744 AB056830;D18S105E;D18S929E;RH12033;SHGC-80098;WI-13484;WI-14624 3110052N05Rik;DKFZP564D1378 haloacid dehalogenase-like hydrolase domain-containing protein 2 protein-coding ENSG00000167220 25364 13640 VALIDATED 1348226 HDX highly divergent homeobox X X X q21.1 83811669 83996281 - 83462861 83644114 - 83572882 83757487 - 6480464 14702039;12477932;16344560;20211142;20462248 139324 E2QRN0;Q7Z353 ABBA01051552;ABBA01051553;ABBA01051554;ABBA01051555;ABBA01051556;ABBA01051557;ABBA01051558;ABBA01051559;ABBA01051560;ABBA01051561;ABBA01051562;ABBA01051563;ABBA01051564;ABBA01051565;ABBA01051566;ABBA01051567;ABBA01051568;ABBA01051569;ABBA01051570;ABBA01051571;ABBA01051572;ABBA01051573;ABBA01051574;ABBA01051575;ABBA01051576;ABBA01051577;ABBA01051578;ABBA01051579;AK055240;AK290050;AL022160;AL035552;AL450471;AMYH01022659;BC101720;BC101722;BC143522;BX538112;BX649166;CH471104;DA719263;NG_017158;NM_001177478;NM_001177479;NM_144657 AAI01721;AAI01723;AAI43523;BAB70886;BAF82739;CAD98024;EAW98572;EAW98573;EAW98574;NP_001170949;NP_001170950;NP_653258;Q7Z353 Hs.559546 1701716;1858148;2165061 DXS121;DXS1519;SHGC-18090 CXorf43;D030011N01Rik;FLJ30678;MGC126769;MGC126771 OTTHUMP00000023619;OTTHUMP00000023620;OTTHUMP00000217521;highly divergent homeobox protein-coding ENSG00000165259 26411 06550 VALIDATED 1605668 HEATR1 HEAT repeat containing 1 1 1 1 q43 209960588 210016126 - 234780594 234834437 - 236712305 236767841 - 6480464;6907045 14702039;15231747;17353931;16710414;15146197;15028280;17699751;12477932;12429849;10737800;16344560;23383273;19596686;21987572;22178446;19471022;21139048;21890473;21906983;21963094;22586326;18029348;18187620;22053931;22505724 55127 A2VDI1;B2RWN5;Q5T3Q7;Q6P664;Q9H583 ABBA01033166;ABBA01033167;AK001221;AK001857;AK095692;AK098212;AK125663;AK304129;AK316413;AL359921;AL599555;AMYH01001858;AX067150;BC011983;BC035302;BC062442;BC065205;BC130000;BC150614;BQ376007;BU102172;CH471098;CK002719;CN357968;DB067322;NM_018072 AAH11983;AAH62442;AAH65205;AAI30001;AAI50615;BAA91564;BAC05261;BAG54233;BAG65025;BAH14784;CAC26776;EAW70060;EAW70061;EAW70062;EAW70063;NP_060542;Q9H583 Hs.708114 1645480;1645482;1645829;1698968;1722589;1739235;1744887;1767208;1846905;1855606;1856470;2148490;2170926;2172297;2180317;2182218 A005A42;AL010072;D1F299S1;D1S2293;G20229;G60376;HSCZVH012;RH103053;RH16350;RH68829;SGC34592;SHGC-32054;SHGC-76570;SHGC-76571;WI-12386;WI-20466 BAP28;FLJ10359;MGC72083;RP11-385F5.3;UTP10 HEAT repeat-containing protein 1;OTTHUMP00000037966;OTTHUMP00000037967;UTP10, small subunit (SSU) processome component, homolog;protein BAP28 protein-coding ENSG00000119285 25517 17569 VALIDATED 1606283 HEATR2 HEAT repeat containing 2 The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] 7 7 7 p22.3 734101 794859 + 732864 792642 + 766338 826116 + 6480464 17353931;16341674;15489334;14702039;12477932;8125298;16169070;18838000;22863883;21987572;21252943;19471022;21890473;21906983;21963094;20301301;22053931;22505724;23040496 54919 B3KPE2;E9PGY2;H0Y650;H7C3B1;Q86Y56 AACC02000129;ABBA01039303;ABBA01039304;AC144411;AK000404;AK054595;AK056233;AK096700;AK098430;AK225507;AL832914;AMYH01016940;AMYH01016941;BC010850;BC047240;BC072425;BC094840;BM743055;CB238804;CH236965;CH471144;NG_033137;NM_017802;NR_075098 AAH10850;AAH47240;BAA91142;BAG51395;BAG51654;BAG53353;CAH10624;EAW87168;EAW87169;EAW87170;EAW87171;EAW87172;EAW87173;NP_060272;Q86Y56 Hs.535896 1648758;1777732;2142041 D7S2037E;GDB:4585429;STS-R09421 CILD18;FLJ20397;FLJ25564;FLJ31671;FLJ39381 HEAT repeat-containing protein 2;OTTHUMP00000199961;OTTHUMP00000199962 protein-coding ENSG00000164818 26013 07903 614864;614874 REVIEWED 1602884 HEATR3 HEAT repeat containing 3 16 16 16 q12.1 34613203 34679975 + 48657382 48696893 + 50099881 50139392 + 6480464 15489334;14702039;12477932;23181366;19471022;21139048;21890473;19322201;22960999;22797925 55027 B7WNW7;Q7Z4Q2 ABBA01000879;ABBA01000880;ABBA01000881;AC007610;AF462442;AK000725;AK289949;AMYH01007657;BC014415;BC018730;BC033077;CH471092;NM_182922 AAH14415;AAH18730;AAH33077;AAP97710;BAA91342;BAF82638;EAW82743;EAW82744;EAW82745;NP_891552;Q7Z4Q2 Hs.733027 1681893;2220260;5015881;5022651;5037552 AB049854;D11S2921;D8S2279;GDB:335751;RH65772 FLJ20718;SYO1 HEAT repeat-containing protein 3;OTTHUMP00000164228;OTTHUMP00000164229 protein-coding ENSG00000155393 26087 07945 614951 PROVISIONAL 1347266 HEATR5A HEAT repeat containing 5A 14 14 14 q12 11626496 11723479 - 30832103 30927932 - 31760994 31889788 - 6480464 14702039;12477932;11181995;10718198;22939629;21139048;21906983;22505724 25938 B5MC49;E9PB09;F5H619;F8VQQ6;H0YHE0;H0YHS5;H0YIW3;H7C5W6;Q86XA9 AA521333;AB037737;ABBA01061417;ABBA01061418;ABBA01061419;ABBA01061420;ABBA01061421;ABBA01061422;ABBA01061423;AK000343;AK023789;AK092400;AK092933;AL117511;AL136418;AL139353;AMYH01005642;BC045764;BC062720;BC063867;BJ996129;CH471078;CR749444;DC343794;DN997074;NM_015473 AAH45764;AAH62720;AAH63867;BAA91098;BAA92554;CAB55971;CAH18282;EAW65947;EAW65948;EAW65949;NP_056288;Q86XA9 Hs.370299 1338848;1655919;1685093;5015961;5020242;5022578;5022588 D11S2612;D14S1071;D15S1477;D1S1423;D5S1597E;RH66015;RH98883 C14orf125;DKFZp781E083;MGC72028 HEAT repeat-containing protein 5A;OTTHUMP00000239988;OTTHUMP00000239989;OTTHUMP00000243952 protein-coding ENSG00000129493 20276 VALIDATED 1604000 HEATR5B HEAT repeat containing 5B 2 2 2 p22.2 37049173 37152514 - 37061657 37164989 - 37208153 37311485 - 6480464 19023099;17975119;14702039;10718198;21076409;12477932;20379614;21890473;19322201 54497 H7C2X3;Q9P2D3 AB037835;ABBA01074970;ABBA01074971;ABBA01074972;ABBA01074973;AC007404;AC007899;AK001513;AK026928;AK096637;AL832880;AMYH01010257;AMYH01010258;AMYH01010259;AV759566;BC150605;BX538008;BX648805;CH471053;NM_019024 AAI50606;BAA91733;BAA92652;CAD97959;EAX00412;EAX00413;NP_061897;Q9P2D3 Hs.744084 1673151;1673471;1719193;1789264;2115847;2120709 A002T40;G27381;G65630;RH123315;SHGC-4171;SHGC-63528 KIAA1414 HEAT repeat-containing protein 5B;OTTHUMP00000201323 protein-coding ENSG00000008869 29273 11145 VALIDATED 1602622 HEATR4 HEAT repeat containing 4 14 14 14 q24.3 54009476 54061745 - 73014945 73095404 - 73945189 74025651 - 18029348;15489334;14702039;12477932;20736409 399671 G3V3Q5;G3V5L2;H3BSP2;Q86WZ0 ABBA01030753;ABBA01030754;ABBA01030755;ABBA01030756;ABBA01030757;ABBA01030758;ABBA01030759;ABBA01030760;AC005225;AC005280;AK093515;AK302564;AMYH01005845;BC047590;CH471061;GU727638;NM_001220484;NM_203309 AAH47590;ADU87640;BAH13745;EAW81116;EAW81117;NP_001207413;NP_976054;Q86WZ0 Hs.660774 1644664;1653277;1657161;1680867;1689189;1738931;1740767;1774142;1778838;1849679;2110049;2114984;2116067;2116333;2117383;2122577;2128152;2132620;2138076;2138696;2139154;2142502;2143971;2147147;2159281;2160289;2174887;2176593;2176836;2177870;2181565;2182971;5021694 A002Q22;D14S1209;D14S646E;D14S784;G17787;G35609;G35797;G35949;G35993;G36023;G38128;G38138;G38142;G38158;G38170;G38173;G38200;G38209;G38217;G38223;G38226;G38227;G38231;G38276;G38315;G38321;RH92460;RH94023;SHGC-56451;STS-Z40969;WI-22498;ZAP128_9204;ksks225 MGC48595 HEAT repeat-containing protein 4;OTTHUMP00000246584;OTTHUMP00000246585 protein-coding ENSG00000187105 16761 14657 VALIDATED 1606785 HEATR6 HEAT repeat containing 6 17 17 17 q23.1 54584069 54619809 - 55475334 55511074 - 58120552 58156292 - 6480464 16344560;12755490;12477932;21139048;21890473;21906983 63897 K7EIX2;K7EK31;K7EKB1;K7EKF5;K7EKW7;K7ELA5;K7ELR8;K7ESP5;Q6AI08 ABBA01035418;ABBA01035419;AC005702;AC025048;AF349752;AK025740;AK026070;AK127708;AK314655;AMYH01008526;BC119771;BC119813;BX640819;BX640831;CH471109;CR627418;DA375099;NM_022070 AAI19772;AAI19814;AAL83912;BAB15229;BAB15348;BAG54555;CAE45895;CAE45906;CAH10506;EAW94369;EAW94370;NP_071353;Q6AI08 Hs.591183 1655891;1714859;1773337;1773339;1856438 D17S1667;RH120424;RH12236;SHGC-24306;SHGC-37673 ABC1;DKFZp686D22141;FLJ22087;MGC148096 HEAT repeat-containing protein 6;amplified in breast cancer 1;amplified in breast cancer protein 1 protein-coding ENSG00000068097 24076 12399 VALIDATED 732166 HDLBP high density lipoprotein binding protein The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 2 2 q37.3 241815352 241903927 - 242166682 242255115 - 1580863;6480464 14702039;15231748;15109574;14500828;12543931;12488461;12477932;12107412;11284697;10657246;9409201;8681952;8605996;8477745;8390966;8168838;3034894;1318310;17353931;18648073;17081983;15723802;15592455;15489334;15302935;19913121;20628086;18029348;19878569;19950580;20442750;20936779;21145461;21319273;20974809;22863883;22939629;17620599;22586326;21139048;21890473;21906983;19471022;21500547;22505724 3069 C9J5E5;C9J739;C9JB08;C9JBS3;C9JE93;C9JEJ8;C9JES8;C9JHN6;C9JHS7;C9JHS9;C9JHZ8;C9JIZ1;C9JK79;C9JKQ5;C9JMQ6;C9JQ82;C9JT62;C9JZI8;H0Y394;H7BZC3;H7C0A4;H7C2D1;H7C3D0;Q00341 ABBA01006043;ABBA01006044;AC104841;AF116718;AK026138;AK092755;AK127833;AK131375;AK296684;AK300312;AK309075;AK312335;AL701577;AMYH01011629;AMYH01011630;AMYH01011631;BC001179;BC007961;BC009422;BC014305;BC021817;BC038965;BC058826;BC113120;BG476584;BG720303;BG769363;BX647759;BX648235;CD672674;CH471063;CQ834792;M64098;NM_001243900;NM_005336;NM_203346;X92544;X92545 AAA35962;AAF71138;AAH01179;AAH14305;AAI13121;AAY14717;ABM82813;ABW03453;BAC87153;BAD18526;BAG35256;BAG59280;BAG62064;CAH05611;CAI46262;EAW71253;EAW71254;EAW71255;NP_001230829;NP_005327;NP_976221;Q00341 Hs.471851;Hs.732361 1645262;1658790;1701640;1725521;1730183;1734854;1739971;1850257;1852609;2143680;2146606;2158991;2181593 A005K34;D2S1516E;D2S1602E;D2S180E;D2S2126;G42013;G42014;IB1294;RH101;RH104464;RH119159;RH47030;SGC30234 FLJ16432;HBP;PRO2900;VGL HDL-binding protein;OTTHUMP00000164572;OTTHUMP00000200288;OTTHUMP00000200289;OTTHUMP00000200290;high density lipoprotein-binding protein;lipoprotein-binding protein;vigilin APPROVED protein-coding ENSG00000115677 4857 00813 142695 REVIEWED 1323071 HEBP2 heme binding protein 2 6 6 6 q24 139465471 139474717 + 138767029 138776275 + 138725336 138734582 + 6480464 17098234;16189514;15489334;14574404;12477932;11827465;10640688;2018407;19574650;19901022;21639858;21139048;21890473 23593 C9IZA0;H7C0N7;Q5THN1;Q9Y5Z4 ABBA01025809;AF117616;AF411610;AK057928;AL031003;AL391669;AMYH01016703;AY427823;BC008205;BC010290;BC016806;BC016807;BC093037;BF974311;CH471051;NM_014320 AAD32099;AAH08205;AAH10290;AAH16806;AAH16807;AAH93037;AAL07394;AAR88624;EAW47917;NP_055135;Q9Y5Z4 Hs.486589 1647915;1679529;1686636;1760213 RH27495;RH93584;SHGC-132493;SHGC-33316 C6ORF34B;C6orf34;KIAA1244;PP23;RP3-422G23.1;SOUL OTTHUMP00000017296;OTTHUMP00000017297;heme-binding protein 2;placental protein 23 protein-coding 15716 09316 605825 VALIDATED 1312483 HECA headcase homolog (Drosophila) This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008] 6 6 6 q23-q24 140196318 140242007 + 139497942 139543639 + 139456249 139501946 + 1580863;6480464 19322201;11696983;19240061;16525680;15489334;14574404;12477932;19643820;22100912 51696 Q9UBI9 AB033492;AB033496;ABBA01025798;ABBA01025799;AJ420550;AL031772;AL117651;AMYH01016707;AMYH01016708;BC070068;CH471051;NM_016217 AAH70068;BAA85322;BAA85333;EAW47901;NP_057301;Q9UBI9 Hs.197644 1658052;1663861;1663863;1739545;2127611;2131042;2137399;2180862 A005Q40;AFMa176xf5;D6S1522;D6S1787;G20423;G29244;RH36066;RH68114 HDC;HDCL;HHDC;dJ225E12.1 OTTHUMP00000017312;headcase protein homolog APPROVED protein-coding ENSG00000112406 21041 16265 607977 REVIEWED 1312101 HEBP1 heme binding protein 1 The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008] 12 12 12 p13.1 18276649 18302105 - 13019065 13044488 - 13127798 13153243 - 6480464 10640688;15623572;15489334;12477932;17237393;12413491;8889548;20379614;19913121;20628086;18577758;20800521;21709160;22939629;21139048;21906983 50865 F5GWX2;H0YG71;Q9NRV9 AA699304;ABBA01067857;AC007688;AF117615;AF167473;AK289877;AMYH01004292;AW452041;BC016277;BI550915;BT007294;CF126276;CH471094;NM_015987 AAD32098;AAF89618;AAH16277;AAP35958;ABM83264;ABM86469;BAF82566;EAW96295;EAW96296;NP_057071;Q9NRV9 Hs.642618 1721983;1751539;1770395;1771568;1850522;1851215;2155566;2219126 AFM276WA9;G59877;HEBP1__6706;RH44995;RH47861;SHGC-105326;SHGC-32615;STS-N40929 HBP;HEBP OTTHUMP00000239413;OTTHUMP00000239415;heme-binding protein 1;p22HBP APPROVED protein-coding ENSG00000013583 17176 16162 605826 REVIEWED 1313620 HECTD2 HECT domain containing E3 ubiquitin protein ligase 2 10 10 10 q23.32 86916030 87018125 + 93160081 93264500 + 93170096 93274520 + 6480464 19214206;15489334;15164054;14702039;12477932;9110174;8619474;16385451;19754925;21335971;21139048;21890473;19322201 143279 B3KV18;E7ERR3;Q5U5R9 ABBA01021926;AC023902;AF131793;AK094625;AK122629;AK295723;AL161798;AL713675;AL832073;AMYH01002942;AMYH01002943;AMYH01002944;BC036487;BC040187;BX537856;CH471066;NM_173497;NM_182765 AAH40187;ACE86953;ACE87644;BAC04388;BAG53630;BAG58564;CAD28480;CAH10405;EAW50109;EAW50110;EAW50111;NP_775768;NP_877497;Q5U5R9 Hs.596096 1690986;1710148;1711312;1736138;1751735;1781250;2125184;2131931;2137768 D10S1396E;RH44740;RH45993;RH46925;RH66237;SHGC-105708;SHGC-82330;SHGC-84908;stSG70363 FLJ16050 HECT domain containing 2;HECT domain-containing protein 2;OTTHUMP00000020086;OTTHUMP00000038605;probable E3 ubiquitin-protein ligase HECTD2 APPROVED protein-coding ENSG00000165338 26736 13643 VALIDATED 1606229 HECTD3 HECT domain containing E3 ubiquitin protein ligase 3 The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012] 1 1 1 p34.1 43751008 43759811 - 45240807 45249614 - 45468220 45477027 - 6480464 18194665;16710414;16344560;15489334;14702039;12665801;12477932;8889549;8889548;18821010;23358872;22863883;22990118;22623531;21903422;22118674;21139048 79654 A1A4G1;B3KU34;Q5T447 AA001245;ABBA01050894;ABBA01050895;AK056545;AK056873;AK091583;AK096462;AK301124;AL359473;AMYH01000569;AW170440;BC012829;BC019105;BC126352;BC130470;BQ215795;CA314393;CH471059;DA332198;NG_033058;NM_024602 AAH19105;AAI26353;AAI30471;BAG51742;BAG51819;BAG52386;BAG53296;BAG62718;EAX07009;EAX07010;NP_078878;Q5T447 Hs.525084 1712338;2170942;2191063 G54078;MARC_13905-13906:1007570719:1;SHGC-74715 FLJ21156;FLJ31983;MGC161630;RP11-69J16.1 E3 ubiquitin-protein ligase HECTD3;HECT domain containing 3;HECT domain-containing protein 3;OTTHUMP00000010267;OTTHUMP00000010268;probable E3 ubiquitin-protein ligase HECTD3 APPROVED protein-coding ENSG00000126107 26117 13383 REVIEWED 1606926 HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 12 12 12 q24.13 112223478 112446926 - 111082494 111228421 - 112597992 112819896 - 6480464 14702039;12477932;9734811;22751097;22797727;21572416;19396169;20379614;21270382;21642993;21139048;21909109;23364009 283450 F8VPX9;F8VU57;F8VWT9;F8VY39;F8W0W5;H0YIL8;J3KPF0;Q9NZS4 AB014514;ABBA01019919;ABBA01019920;ABBA01019921;ABBA01019922;ABBA01019923;ABBA01019924;ABBA01019925;ABBA01019926;ABBA01019927;ABBA01019928;ABBA01019929;AC004031;AC004086;AC004217;AC073575;AF086006;AF174498;AK001372;AK054654;AK091473;AL117469;AMYH01004754;BC006270;BC021144;BC065706;BC101482;BC143384;BC143388;CH471054;NM_001109662 AAF36539;AAH06270;AAH21144;AAH65706;AAI01483;AAI43385;AAI43389;BAA31589;BAC03671;CAB55944;EAW97998;EAW97999;EAW98000;NP_001103132;Q9Y4D8 Hs.530943 1655552;1670689;1683701;1691012;1700478;1704382;1771908;1775302;1776888;2115329;2119042;2122082;2130813;2140380;2145611;2159024;5016352;5016781;5491517 D12S1860;D12S2092;G17676;L30021;MARC_16795-16796:1021401606:1;RH103860;RH12610;RH44563;RH44600;RH44712;RH80597;SHGC-17261;SHGC-67307;SHGC-79708;STS-AA007416;STS-H65212;STS-H71122;WI-15340;WI-19956 C12orf51;DKFZp586O1022;FLJ10510;FLJ30092;FLJ30208;FLJ34154;KIAA0614;MGC126531 AF-1 specific protein phosphatase;HECT domain-containing protein 4;OTTHUMP00000241766;probable E3 ubiquitin-protein ligase C12orf51;probable E3 ubiquitin-protein ligase HECTD4;transmembrane protein C12orf51 APPROVED protein-coding ENSG00000173064 26611 08170 VALIDATED 1352203 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 7 7 7 p13 43142126 43592827 + 43118723 43569463 + 43152198 43602938 + 1580863;6480464 18029348;18223681;14702039;14684739;12690205;12168954;9205841;11244092;21283621;16713569;20976258;21108931;19144635;12477932;21078624;21906983;23535033;21572392;23251661 23072 B4DH42;H7C3Q2;Q76N89 AACC02000040;AB002320;AB048365;ABBA01058179;ABBA01058180;ABBA01058181;ABBA01058182;ABBA01058183;ABBA01058184;ABBA01058185;ABBA01058186;AC004455;AC004692;AC005537;AC006365;AC011738;AK022679;AK090799;AK294918;AL079731;AL536075;AMYH01017204;AMYH01017205;AMYH01017206;BC151227;CH236951;CH471073;NM_015052 AAI51228;BAA20780;BAB13352;BAG52230;BAG58003;EAL24007;EAW94158;EAW94159;EAW94160;NP_055867;Q76N89 Hs.164453 1337816;1341479;1664295;1677414;1691708;1722747;1747975;1754705;1756603;1772575;1779210;1852706;1856559;2108837;2115659;2117660;2146221;2174744;2179648;2183441;2183693;5491551;5491703;7183423;7186184 A006U39;D7S1767;D7S2318;D7S2342;D7S2428;D7S678;EST209747;G42172;G60312;G66798;GDB:1317398;GDB:1317404;GDB:1317410;L30017;MARC_17638-17639:1019144663:1;MARC_8191-8192:996688382:1;NEDL1_9301;RH11865;RH92286;SHGC-133067;SHGC-143639;SHGC-152797;STS-R45677 KIAA0322;NEDL1 E3 ubiquitin-protein ligase HECW1;HECT type E3 ubiquitin ligase;HECT, C2 and WW domain-containing protein 1;NEDD4-like E3 ubiquitin-protein ligase 1;NEDD4-like ubiquitin-protein ligase 1;OTTHUMP00000159167;OTTHUMP00000207413;hNEDL1 protein-coding ENSG00000002746 22195 11385 610384 VALIDATED 1603204 HEG1 heart development protein with EGF-like domains 1 3 3 3 q21.2 123091267 123182155 - 126167244 126257492 - 124684554 124774802 - 6480464 16303743;14680629;12477932;10574462;20379614;19151727;23007647 57493 H7C4K2;H7C4M4;Q9ULI3 AB033063;ABBA01016431;AC026342;AC092983;AC117488;AF173887;AK074987;AMYH01013440;BC004539;BC014053;BC047661;BC067235;DR003209;JA738673;NM_020733 AAH04539;AAH67235;AAQ13634;BAA86551;BAC11336;CCF76989;NP_065784;Q9ULI3 Hs.477420 1669518;1687864;1720003;1721873;1766415;1767473;1767475;2128849;2150220;2165259;2165261;5094346;5105621 A005T15;A005T39;D3S3919;G20477;G20489;G54625;G59967;RH123979;RH78887;RH80409;SHGC-132424;SHGC-149756;SHGC-31348 HEG;KIAA1237;MGC72175;MST112;MSTP112 HEG homolog 1;OTTHUMP00000215555;heart of glass;protein HEG homolog 1 APPROVED protein-coding ENSG00000173706 29227 614182 VALIDATED 1350415 HECTD1 HECT domain containing E3 ubiquitin protein ligase 1 14 14 14 q12 11434814 11542175 - 30639075 30746440 - 31569324 31676689 - 1580863;6480464 16344560;15489334;15324660;14702039;12477932;12421765;10574461;19615732;23277359;22863883;21139048;21890473;21906983;20639865;21987572;22586326;21963094;23000965;23444366;21853274;22505724 25831 G3V4V5;H0YJ72;H0YJD4;H0YJP0;H0YJV8;Q9ULT8 AB032957;ABBA01061412;ABBA01061413;ABBA01061414;AK024847;AK095634;AK125788;AL110222;AL121808;AL136418;AMYH01005639;AY254380;AY739714;BC006237;BC011658;BC063686;BC072441;BC083494;CH471078;DA440215;DA818448;NM_015382 AAH06237;AAH11658;AAH63686;AAH83494;AAI72391;AAP13073;AAW65983;BAA86445;BAG54248;CAB53681;EAW65950;EAW65951;EAW65952;NP_056197;Q9ULT8 Hs.708017 1662732;1691290;1736400;1854271;2106489;2142532;2184632 D14S657E;G36011;G36143;HECTD1__6707;L18030;RH80695;WI-17484 FLJ38315;KIAA1131 E3 ligase for inhibin receptor;E3 ubiquitin-protein ligase HECTD1;EULIR;HECT domain containing 1;HECT domain-containing protein 1;OTTHUMP00000244204 APPROVED protein-coding ENSG00000092148 20157 17098 VALIDATED 7207545 HEIH hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA 5 q35.3 180256954 180258618 - 12477932;16344560;21769904;23359273 100859930 ABBA01010085;AC022413;AK026101;AMYH01015972;BC009038;BC011459;BC019622;BC021206;BC032387;BC036631;BC047401;BC068028;BF512686;DA988408;NR_045680 Hs.655606 2185180 STS-H87270 HCCAT2;LINC-HEIH;LINC00848;lncRNA-HEIH APPROVED miscrna 45049 VALIDATED 7115356 HELLPAR HELLP associated long non-coding RNA q23 23093777 101101692 JX088243 LINC-HELLP;lncHELLP miscrna 43984 614985 1349400 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 2 2 2 q32.3 190819831 191213211 - 196772222 197165580 - 197063977 197457335 - 6480464 15489334;12890487;12477932;10718198;20379614;22939629;21139048;21890473 57520 C9JHL2;C9JPI9;Q9P2P5 AB037722;ABBA01062452;ABBA01062453;ABBA01062454;ABBA01062455;ABBA01062456;ABBA01062457;AC020571;AC068544;AC073905;AC074090;AC093379;AL390186;AMYH01011382;AMYH01011383;BC117194;BC117198;CH471063;CR749424;NM_020760 AAI17195;AAI17199;BAA92539;CAB99103;CAH18262;EAW70123;NP_065811;Q9P2P5 Hs.654742 1341261;1739269;1758133;1758211;1758729;1784320;1847416;1848859;1857018;2110597;2110947;2157626 AFMA305ZG1;B358YB1;D2S1929E;D2S214E;D2S2387;D2S2627;NEDL2__7325;SHGC-147494;SHGC-147673;SHGC-149338;SHGC-36529;SHGC-83723 DKFZp686M17164;NEDL2 E3 ubiquitin-protein ligase HECW2;HECT, C2 and WW domain-containing protein 2;NEDD4-like E3 ubiquitin-protein ligase 2;NEDD4-related E3 ubiquitin ligase NEDL2;OTTHUMP00000205668;OTTHUMP00000205738 protein-coding ENSG00000138411 29853 17099 PROVISIONAL 2292703 HELT helt bHLH transcription factor 4 4 4 q35.1 183267003 183268846 + 186177077 186178920 + 185940083 185941926 + 16644143;15815621;15489334;15375612;14764602;12477932;17611227;20508642 391723 A6NFD8;B7ZMI7 ABBA01070524;AC093824;AMYH01014772;BC140795;BC144567;BC144569;CH471056;NM_001029887 A6NFD8;AAI40796;AAI44568;AAI44570;AAI60136;EAX04657;EAX04658;NP_001025058 Hs.531242 5492355 Helt HCM1228;HESL;Mgn;bHLHb44 HES-like;HES/HEY-like transcription factor;Heslike;Hey-like transcription factor;Hey-like transcriptional repressor;Megane bHLH factor;OTTHUMP00000218305;OTTHUMP00000218306;hairy and enhancer of split-related protein HELT APPROVED protein-coding ENSG00000187821 33783 PROVISIONAL 1346644 HELLS helicase, lymphoid-specific This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 10 10 10 q24.2 90045660 90101938 + 96295564 96351846 + 96305574 96361856 + 1580863;6480464 19064572;18948754;17967891;15489334;15305370;15164054;15105378;14702039;12880961;12477932;10910076;9878251;9110174;8889549;8619474;17643375;19561196;20400365;21832049;17314511;21453717;21139048;21549307;21890473;21906983;22157815;19471022;22505724 3070 B1ALG6;Q76H80;Q76H82;Q9NW36 AB074174;AB102716;AB102717;AB102718;AB102719;AB102720;AB102721;AB102722;AB102723;AB113248;AB113249;ABBA01021848;ABBA01021849;ABBA01021850;AC090439;AF155827;AK001201;AK022928;AK308331;AK314485;AL138759;AMYH01002965;AMYH01002966;AY007108;BC015477;BC029381;BC030963;BC031004;BC068440;BC105606;BC111789;BX538033;CH471066;NM_018063 AAF82262;AAG01987;AAH15477;AAH29381;AAH30963;AAH31004;AAI05607;AAI46309;ACE86702;ACE87386;BAA91550;BAD10844;BAD10845;BAD10846;BAD10847;BAD10848;BAD10849;BAD10850;BAD10851;BAD24804;BAD24805;BAE45737;BAG37088;CAD97978;EAW50026;EAW50027;EAW50028;EAW50029;EAW50030;EAW50031;EAW50032;EAW50033;EAW50034;EAW50035;EAW50036;EAW50037;EAW50038;NP_060533;Q9NRZ9 Hs.655830 1685926;2185176;2217416;5117897 GDB:631813;HELLS_3381;RH93667;STS-N95450 FLJ10339;LSH;Nbla10143;PASG;SMARCA6 OTTHUMP00000020127;SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6;SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6;lymphoid-specific helicase;proliferation-associated SNF2-like protein APPROVED protein-coding ENSG00000119969 4861 07232 603946 REVIEWED 1605893 HELQ helicase, POLQ-like HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008] 4 4 4 q21.23 81618948 81667478 - 84547523 84596049 - 84328499 84377025 - 6480464 19995904;18270339;16344560;12794064;12477932;11751861;20379614;20800603;17549794;21437268;21398521;22939629;18029348;22267201 113510 E3W980;E3W982;Q8TDG4 ABBA01063465;AC096768;AF436845;AK126255;AK128665;AK308395;AK312725;AL512702;AMYH01014359;BC011863;BC015428;BC065814;BC095473;BC111502;CH471057;CK905810;DB081240;NM_133636 AAH15428;AAH95473;AAI41525;AAL85274;BAC87559;CAH56359;EAX05934;EAX05935;EAX05936;NP_598375;Q8TDG4 Hs.480101 1336954;1647254;2142849 D4S2520E;D6S1576;SHGC-36904 HEL308;MGC20604 DNA helicase HEL308;OTTHUMP00000160977;OTTHUMP00000219793;POLQ-like helicase;helicase POLQ-like;mus308-like helicase APPROVED protein-coding ENSG00000163312 18536 08422 606769 VALIDATED 1316013 HELZ helicase with zinc finger HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008] 17 17 17 q24.2 61639217 61813834 - 62497016 62671781 - 65066554 65241319 - 1580863;6480464 15342556;15302935;15235609;12691822;12477932;10471385;7584044;12615363;20378664;20936779;21765940;17000644;21139048;21890473;21906983;22586326;19322201;21150319;21963094;21988832;23000965 9931 I6L9H4;J3KS59;J3KT20;J3QRR8;J3QS41;P42694 AA885317;ABBA01029009;ABBA01029010;ABBA01029011;ABBA01029012;ABBA01029013;ABBA01029014;AC005544;AC007448;AI271466;AK310217;AL110161;AL832149;AMYH01008583;BC056895;BC094881;BC130582;BC144083;BP353830;CH471099;D29677;NM_014877 AAH56895;AAH94881;AAI30583;AAI44084;BAA06147;EAW89023;EAW89024;NP_055692;P42694 Hs.370140;Hs.569824;Hs.596366 1682774;1729707;1738971;1777218;2109385;2122088;2172600;2182323;5022450;5037552;5491479 D10S275;D17S1599;D17S584;D8S2279;HELZ__7570;L18010;MARC_15239-15240:1012593750:1;RH47023;RH92736;SHGC-10970;STS-D29677 DHRC;DKFZp586G1924;DRHC;HUMORF5;KIAA0054;MGC163454 down-regulated in human cancers protein;helicase with zinc finger domain;probable helicase with zinc finger domain APPROVED protein-coding ENSG00000198265 16878 10452 606699 VALIDATED 1604565 HELZ2 helicase with zinc finger 2, transcriptional coactivator The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 58869799 58886258 - 61659883 61676036 - 62189439 62205592 - 6480464 16239304;15302935;14702039;12477932;12189208;12168954;11780052;11214970;10737800;22446964;16147992;16009940;21139048;21906983;22586326 85441 Q4VXQ0;Q9BYK8 AB051556;AB201715;AB232667;ABBA01021403;AF517673;AK023724;AK055611;AK074171;AL121829;AMYH01012083;BC035130;BC036883;BC104974;BC112023;BC150283;BE062855;BE731343;BQ707207;CH471077;NM_001037335;NM_033405 AAI04975;AAI12024;AAI50284;AAM74197;BAB21860;BAB70969;BAB84997;BAE46995;BAE46996;EAW75255;EAW75256;EAW75257;NP_001032412;NP_208384;Q9BYK8 Hs.517180 5037552 D8S2279 FLJ00244;KIAA1769;MGC132634;MGC138228;PDIP-1;PRIC285 ATP-dependent helicase PRIC285;OTTHUMP00000031553;OTTHUMP00000214531;PDIP1;PPAR gamma DBD-interacting protein 1;PPAR-alpha-interacting complex protein 285;PPAR-gamma DBD-interacting protein 1;PPAR-gamma DNA-binding domain-interacting protein 1;PPARG-DBD-interacting protein 1;PPARgamma-DNA-binding domain-interacting protein1;PRIC complex;helicase with zinc finger domain 2;peroxisomal proliferator activated receptor A interacting complex 285;peroxisomal proliferator-activated receptor A interacting complex 285;peroxisomal proliferator-activated receptor A-interacting complex 285 kDa protein;peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285 kD subunit APPROVED protein-coding ENSG00000130589 30021 11459 611265 REVIEWED 1344471 HELB helicase (DNA) B This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. [provided by RefSeq, Mar 2012] 12 12 12 q14.3 66360579 66396179 + 64982623 65018225 + 66696335 66737423 + 1580863;6480464 8889549;21890473;12181327;12477932;11557815;17148452;22194613 92797 F5H1I4;Q8NG08 AA070301;ABBA01026574;AC078889;AF319995;AK290894;AMYH01004554;BC037946;BC143409;BC143411;CH471054;DN997712;NM_033647 AAI48593;AAI57020;AAM73554;BAF83583;EAW97165;EAW97166;EAW97167;NP_387467;Q8NG08 Hs.505941 1743245;1747755;2148331 G66813;GDB:312742;SHGC-34947 hDHB DNA helicase B;OTTHUMP00000239916;OTTHUMP00000239918;OTTHUMP00000239919;hDHB;helicase B APPROVED protein-coding ENSG00000127311 17196 09979 614539 REVIEWED 1345614 HEPHL1 hephaestin-like 1 11 11 11 q21 91042195 91135169 + 93394026 93487022 + 93754378 93847374 + 6480464 20379614;23251661 341208 Q6MZM0 AB231719;ABBA01040034;ABBA01040035;AMYH01003961;AMYH01003962;AMYH01003963;AMYH01003964;AP002795;AP003966;BX641008;EG328157;NM_001098672 BAE46880;CAE46009;NP_001092142;Q6MZM0 Hs.669645 DKFZp686F22190 OTTHUMP00000236757;hephaestin-like protein 1 protein-coding ENSG00000181333 30477 VALIDATED 1351335 HEMGN hemogen 9 9 q22.33 99728894 99746955 - 100689073 100707134 - 1580863;6480464 18599389;17671716;16437149;15920494;15489334;15332117;15164053;14730214;14648837;12477932;11483580;11404085;20564185;19197348;19779022;16344560;21988832;22712502 55363 Q9BXL5 ABBA01042925;ABBA01042926;AF116617;AF130060;AF228713;AF306681;AF306682;AF306683;AF322875;AK292441;AL354726;AL499604;AL833094;AMYH01021558;AMYH01021559;AY244805;AY255672;BC048324;BG571634;BG717036;CH471105;DA485094;HY026328;NM_018437;NM_197978 AAF67133;AAF71041;AAG35488;AAH48324;AAK26295;AAP75762;AAP81221;BAF85130;EAW58861;EAW58862;EAW58863;NP_060907;NP_932095;Q9BXL5 Hs.176626 1775331;2137381;2173305 RH16211;SHGC-33415;SHGC-34470 EDAG;EDAG-1 OTTHUMP00000021758;erythroid differentiation-associated gene protein;hemogen;hemopoietic gene protein;negative differentiation regulator protein protein-coding ENSG00000136929 17509 17100 610715 VALIDATED 2298739 HEPN1 hepatocellular carcinoma, down-regulated 1 This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011] 11 11 11 q24 121949292 121950719 + 124294356 124295783 + 124789146 124790573 + 6480464 15917256;15885354;15489334;12971969;23548416 641654 Q6WQI6 ABBA01031249;AMYH01004104;AP003501;AY275431;NG_029603;NM_001037558 AAI48522;AAI56584;AAQ19120;NP_001032647;Q6WQI6 Hs.159863 2175375;2185212 2046;RH78168 HEPACAM opposite strand 1;OTTHUMP00000231541;cancer susceptibility gene HEPN1;putative cancer susceptibility gene HEPN1 protein APPROVED protein-coding ENSG00000221932 34400 611641 REVIEWED 1605560 HEPACAM hepatic and glial cell adhesion molecule The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011] 11 11 q24.2 124294355 124311518 - 124789145 124806308 - 6480464 19142852;19059381;18845560;18293412;18082421;16344560;15917256;15885354;12477932;12971969;21419380;19507233;20205955;20237496;20593288;20514407;20628239;21624973;21618595;20301707;22906662 220296 Q14CZ8 ABBA01031248;ABBA01031249;AK098396;AK122595;AL834419;AMYH01004104;AP003501;AY047587;BC037810;BC104831;BC113562;CH471065;DA239226;NG_029603;NM_152722 AAI04832;AAI13563;AAQ93018;BAC05297;BAC85486;CAD39081;EAW67614;EAW67615;EAW67616;NP_689935;Q14CZ8 Hs.745294 2175375;2185212 2046;RH78168 FLJ25530;GlialCAM;MLC2A;MLC2B OTTHUMP00000231540;cancer susceptibility;glial cell adhesion molecule;hepatocyte cell adhesion molecule;protein hepaCAM APPROVED protein-coding ENSG00000165478 26361 08068 611642;613925;613926 REVIEWED 1602307 HENMT1 HEN1 methyltransferase homolog 1 (Arabidopsis) 1 1 1 p13.3 107460828 107474037 - 108992433 109005671 - 109190910 109204148 - 6480464 15342556;14702039;12477932;17207965;19850743;22505724 113802 Q5T8I9 ABBA01068353;ABBA01068354;AK055087;AK310152;AK311542;AL160171;AMYH01000926;BC012198;BC088366;BP378034;CH471122;DB510959;NM_001102592;NM_144584 AAH12198;AAH88366;ADQ32758;BAB70852;EAW56324;EAW56325;EAW56326;NP_001096062;NP_653185;Q5T8I9 Hs.7962 1650287;2169816;2169818 A002A28;G19856;RH12040 C1orf59;FLJ30525;HEN1;MGC111091;RP11-256E16.2 HEN1 methyltransferase homolog;OTTHUMP00000012824;OTTHUMP00000012825;OTTHUMP00000012826;hypothetical protein LOC113802;small RNA 2'-O-methyltransferase APPROVED protein-coding ENSG00000162639 26400 08086 612178 VALIDATED 1348344 HERC2P1 hect domain and RLD 2 pseudogene 1 15 15 q13 26247325 26253817 + 28573631 28580323 + 9730612;9730612;9949213 8917 AC091304;AC138747;AMYH01006497;NG_005644 D15F37S2 pseudo 4869 INFERRED 1343848 HEMK1 HemK methyltransferase family member 1 3 3 3 p21.3 50579715 50595228 + 50581913 50597426 + 50606909 50622422 + 1580863;6480464;6907045 18541145;15489334;12477932;10690633;20877624 51409 F2Z2F0;H7C258;Q9Y5R4 ABBA01024543;AC096920;AF131220;AF172244;AK025973;AK124369;AK314023;AL137466;AMYH01013175;BC000781;BX537562;CH471055;NM_016173 AAD26417;AAD51328;AAH00781;ABM83079;ABM83084;ABM86279;BAG36734;EAW65125;EAW65126;NP_057257;Q9Y5R4 Hs.517987;Hs.599362 2131233;5037552 D8S2279;SHGC-64830 FLJ22320;HEMK;MTQ1 HEMK homolog 7kb;OTTHUMP00000210799;OTTHUMP00000210800;OTTHUMP00000210801;hemK methyltransferase family member 1;m.HsaHemKP protein-coding ENSG00000114735 24923 13645 VALIDATED 1602173 HEPACAM2 HEPACAM family member 2 7 7 7 q21.3 87522416 87560293 - 92655835 92693718 - 92817899 92855782 - 6480464 14702039;12975309;12477932;22864114;19358830 253012 A8MVW5;C9JN07 AACC02000014;ABBA01045794;AC000119;AC002453;AK096002;AK298361;AMYH01017691;AY358345;BC046365;BC136300;BC136301;BC139906;CH236949;NM_001039372;NM_198151 A8MVW5;AAI36301;AAI36302;AAI39907;AAQ88711;BAG53196;BAG60603;NP_001034461;NP_937794 Hs.443169 1338863;1699708;1721601;2146189;2163152;2169323;2177391 D7S1762;D7S623;G33891;G59810;RH103459;RH36322;SHGC-23257 MIKI HEPACAM family member 2;OTTHUMP00000162525;OTTHUMP00000197018;OTTHUMP00000208681;OTTHUMP00000208682;mitotic kinetics regulator protein-coding ENSG00000188175 27364 14138 614133 PROVISIONAL 5490929 HERC2P10 hect domain and RLD 2 pseudogene 10 15 15 q13.2 28824131 28907299 + 31110239 31119986 + 6480464 390561 ABBA01038320;AC004460;AC091057;AMYH01006503;DN831747;NR_072991 AAC06338;AAC06339 Hs.721293 1772526;1772528 A006B10;G20670 pseudo 39056 VALIDATED 734284 HEPH hephaestin The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2008] X X q11-q12 65299388 65403956 + 65382433 65487231 + 6480464 18022819;17486601;16274220;16137899;15489334;14702039;12975309;12949720;12477932;12168954;11932491;11891802;10843811;9988272;9734811;20587610;15146197;19452451;20019163;20932654;21802403;22170436;22503983 9843 E7ES21;F8WBZ8;Q5JZ07;Q5JZ08;Q9BQS7 AB014598;ABBA01067098;ABBA01067099;ABBA01067100;ABBA01067101;ABBA01067102;ABBA01067103;ABBA01067104;ABBA01067105;ABBA01067106;ABBA01067107;ABBA01067108;ABBA01067109;AF075034;AF148860;AJ296162;AK022472;AK294278;AK295456;AK307761;AK311043;AK316231;AL030998;AL157698;AMYH01022509;AMYH01022510;AY358990;BC011561;CH471132;CN361718;DQ496100;NG_016265;NM_001130860;NM_014799;NM_138737 AAH11561;AAK08131;AAQ89349;ABF47089;ABM84554;ABW03479;ACE86497;ACE87178;BAA31673;BAG57564;BAG58390;BAH14602;CAC35365;EAX05384;EAX05385;EAX05386;EAX05387;EAX05388;NP_001124332;NP_055614;NP_620074;Q9BQS7 Hs.31720 1334580;1680857;1702638;1729335;1729363;2106491;2186167;5095068;7183684 AL031099;DXS1159;DXS1194;G64106;G64132;HEPH;HEPH__6713;RH99071 CPL;KIAA0698 OTTHUMP00000023443;OTTHUMP00000023444;OTTHUMP00000023445;OTTHUMP00000023446;OTTHUMP00000210958;OTTHUMP00000210959;hephaestin APPROVED protein-coding ENSG00000089472 4866 02159 300167 REVIEWED 1348261 HERC2P6 hect domain and RLD 2 pseudogene 6 15 15 q11.2 21229510 21230095 + 23675986 23680357 + 10417280;9949213 8918 ABBA01048674;AC100756;AF140516;AF140517;AMYH01006477;NG_005348 pseudo 4874 INFERRED 1350245 HERC2P7 hect domain and RLD 2 pseudogene 7 15 15 15 q11.2 1218524 1218918 - 20928821 20953290 + 23390722 23393943 + 9949213 100132101 ABBA01048670;AC100757;AF071178;AMYH01006431;AMYH01006432;BC012949;NR_036470;XR_172430 5022200;5022578;5022651;5037552;5111995 D11S2921;D1S1423;D8S2279;G44298;L18426 pseudo 4875 VALIDATED 4140028 HERC2P8 hect domain and RLD 2 pseudogene 8 16 16 p11.2 33017630 33028287 - 33106353 33139410 - 9730612 440366 AC145350;NG_009637 pseudo 38747 INFERRED 1346601 HERC2P5 hect domain and RLD 2 pseudogene 5 16 16 p11.2 32660066 32694290 + 32752565 32786789 + 9730612 388254 AC137761;AC138907;NG_005349 D16F37S6 pseudo 4873 INFERRED 1314942 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012] 15 15 q22 61687870 61913200 - 63900817 64126147 - 1580863;6480464;6907045 16464865;8861955;19618402;16344560;15642342;14960311;14702039;12650930;12477932;10516438;9949213;9233772;9110174;8889548;8619474;17353931;15231748;16051665;22863883;21139048;21890473;21987572;21835309;22505724 8925 H0YK45;H0YK60;H0YKW7;H0YL07;H0YL74;H0YLG2;H0YMH0;H0YNB1;Q15751 ABBA01038905;ABBA01038906;ABBA01038907;ABBA01038908;ABBA01038909;AC015914;AC073167;AC118274;AF131824;AK091624;AK226162;AK296690;AK310519;AL041045;AMYH01006704;AMYH01006705;AW576595;AY030081;BC040929;BM727478;BQ216911;BQ883457;CH471082;DB117652;NM_003922;U50078 AAD12586;AAH40929;BAG59284;EAW77654;EAW77655;EAW77656;NP_003913;Q15751 Hs.210385 1683136;1721101;1733650;1765029;1778611;1783254;2116755;2123856;2129507;2159012;2174295;2182758;5109362;5121804;5121806 A002A45;D15S620E;D15S790;D17S1239;G19869;G59535;RH45357;RH46471;RH80643;SHGC-148576;SHGC-155152;SHGC-30742;STS-H16734;STS-U50078;WI-20175 p532;p619 HECT domain and RCC1-like domain-containing protein 1;guanine nucleotide exchange factor p532;hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1;hect domain and RCC1-like domain 1;probable E3 ubiquitin-protein ligase HERC1 APPROVED protein-coding ENSG00000103657 4867 06894 605109 REVIEWED 1343541 HERC2P4 hect domain and RLD 2 pseudogene 4 16 16 p11.2 32070110 32071375 - 32162609 32163874 - 12477932;9730612 440362 AC133485;BC038215;NR_002827 Hs.531536 D16F37S5 pseudo 4872 PROVISIONAL 1348486 HERC2P2 hect domain and RLD 2 pseudogene 2 15 15 q11.2 20833727 20929700 - 23282265 23378259 - 6480464 16344560;14702039;12477932;9949213;9730612;9205841;1608955;19615732;17043677 400322 Q68DG8 AA976147;AB002391;ABBA01001728;AC091565;AC100757;AF041080;AF041081;AK095014;AK307870;AK308640;AK309255;AL512684;AMYH01006394;AMYH01006395;AMYH01006396;AMYH01006397;AMYH01006398;AMYH01006399;AMYH01006400;AMYH01006401;AMYH01006402;AMYH01006403;AMYH01006404;AMYH01006405;AMYH01006406;AMYH01006407;AMYH01006408;AMYH01006409;AMYH01006410;AMYH01006411;AMYH01006412;AMYH01006413;AMYH01006414;AMYH01006415;AMYH01006416;AMYH01006417;AMYH01006418;AMYH01006419;AMYH01006420;AMYH01006421;AMYH01006422;AMYH01006423;AMYH01006424;AMYH01006425;AMYH01006426;AMYH01006427;AMYH01006428;AMYH01006429;BC128547;CR749409;DB069140;NR_002824 BAA20846;CAH18252 Hs.458334;Hs.531509;Hs.732630 1660929;1690672;1772526;1772528;5037552;5115178;5118444 A006B10;D11S3316;D15S1276;D8S2279;G20670;RH36769;RH66620 D15F37S3;MN7 pseudo ENSG00000140181 4870 VALIDATED 1606115 HERC2P3 hect domain and RLD 2 pseudogene 3 15 15 q11.1 18848558 18971443 - 20613649 20711433 - 15146197;12477932;9949213;9730612;1608955 283755 Q9BVR0 ABBA01004289;ABBA01120937;ABBA01179499;ABBA01242375;AC026495;AC138748;AK294470;AK294795;AMYH01006137;AMYH01006138;AMYH01006139;AMYH01006140;AMYH01006141;AMYH01006142;AMYH01006143;AMYH01006144;AMYH01006145;AMYH01006146;AMYH01006147;AMYH01006148;AMYH01006149;AMYH01006150;AMYH01006151;AMYH01006152;AMYH01006153;AMYH01006154;AMYH01006155;AMYH01006156;AMYH01006157;AMYH01006158;BC000975;BC033888;BC094757;BC144698;CN398998;NR_036432;X69636 AAI66678;BAH11780;BAH11887;Q9BVR0 Hs.608918 D15F37S4 pseudo ENSG00000180229 4871 18766 VALIDATED 1602146 HERC2P9 hect domain and RLD 2 pseudogene 9 15 15 15 q13.1 6598363 6617823 - 26673352 26709241 + 28899588 28930410 + 15851553;15146197;14702039;12477932;10737800;10332034;9205841;21832049 440248 ABBA01200585;AC055876;AC135348;AF129930;AK056876;AK293512;AK293845;AL832775;AMYH01006497;AW901310;BC047911;BC128548;BE699021;BI007057;BM464322;NR_036443 BAG56995;BAG57243 Hs.531509;Hs.732630 1660929;1690672;1772526;1772528;5014051;5015619;5016478;5021872;5022463;5022651;5037552;5115178;5118444 A006B10;D11S2921;D11S3114;D11S3316;D15S1276;D3S1673;D8S2278;D8S2279;G20670;GDB:434012;RH36769;RH66620;sY3084 FLJ59185 APPROVED pseudo ENSG00000206149 30495 18634 PROVISIONAL 1317498 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012] 15 15 q13 26029781 26240890 - 28356183 28567298 - 1580863;6480464;6907045 22234890;16751776;9949213;19472299;19422935;19208107;19174780;19068216;18528436;18483556;18438405;18252222;18252221;18172690;17952075;17081983;15203218;15146197;14702039;12477932;11752456;10737800;10720573;10441737;9205841;17353931;22561518;15231748;17148452;19615732;20176734;20304803;20379614;20457063;20936779;20463881;19913121;20585627;20616560;20628086;20629734;20631078;20886065;21493713;21197618;21775519;23548203;15840729;19343720;20023648;20360068;23455922;23502783;21139048;21890473;21906983;11337467;16344560;22124266;8889548;22586326;21110914;22645313;20301505;22508508;22261722;22814251;23000965;23065719;23178497;23118974;22496338;22190034;22451720 8924 A8KAQ8;H3BRG9;H3BUQ1;Q86YY7 ABBA01044286;ABBA01044287;ABBA01044288;ABBA01044289;ABBA01044290;ABBA01044291;ABBA01044292;ABBA01044293;AC091304;AC126332;AC135329;AF071172;AF224243;AF224245;AF224249;AF224251;AF224252;AF224253;AF224255;AF224257;AF225401;AF225404;AF225407;AF225409;AI820017;AK122977;AK125229;AL834183;AMYH01006496;AMYH01006497;AU100235;AV692570;AW504156;AW897649;BC015486;BC045544;BC142951;BC148318;BF332492;BQ059143;BX440995;BX451582;CD619122;CF135750;CN302846;CX784863;DA868501;DQ570449;NG_016355;NM_004667 AAD08657;AAI48319;AAO27473;AAO27474;AAO27475;AAO27476;AAO27477;AAO27478;AAO27479;AAO27480;AAO27481;AAO27482;AAO27483;AAO27484;CAD38880;NP_004658;O95714 Hs.434890;Hs.610412;Hs.741019 1751033;1765385;1794426;1794428;2108135;2115225;2157195;2181941;5015961;5022322;5037552 D11S2560;D15S1477;D15S737;D8S2279;HERC2_8875;PMC311424P1;PMC311424P2;RH11271;RH48411;SHGC-104948;SHGC-148873 D15F37S1;DKFZp547P028;KIAA0393;SHEP1;jdf2;p528 E3 ubiquitin-protein ligase HERC2;OTTHUMP00000159564;hect domain and RCC1-like domain-containing protein 2;hect domain and RLD 2;probable E3 ubiquitin-protein ligase HERC2 APPROVED protein-coding ENSG00000128731 4868 06905 227220;605837 REVIEWED 1322175 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] 10 10 10 q21.3 62956525 63109715 - 69351662 69505109 - 69681656 69835103 - 737633;1580863;6480464;6907045 12477932 15676274;15489334;15164054;14702039;10997877;18535780;16385451;20379614;17967448;22863883;21139048;21890473;21906983;18781797;21987572;21963094;22939624;23000965;22496338;22505724 26091 D6RCL5;D6RFK9;H0Y6K7;Q5GLZ8 AB046813;ABBA01019553;ABBA01019554;ABBA01019555;AC024258;AK021844;AK026808;AK027835;AK292809;AL096715;AL133551;AL356741;AMYH01002796;AMYH01002797;AY221963;AY650032;AY650033;AY650034;BC015043;BC018114;BC039465;BC039600;BX101651;BX537563;CH471083;DB459623;NM_001278185;NM_001278186;NM_001278187;NM_015601;NM_022079 AAH39600;AAO65480;AAV66578;AAV66579;AAV66580;ADZ15643;BAB13419;BAF85498;CAB46371;EAW54260;EAW54261;EAW54262;EAW54263;EAW54264;EAW54265;EAW54266;NP_001265114;NP_001265115;NP_001265116;NP_056416;NP_071362;Q5GLZ8 Hs.51891 1672845;1674775;1687850;1688168;1688632;1703804;1772042;1777298;2131294;5015619;5015861;5015961;5016019;5037552;5117897;7185938 39012557;D10S16;D10S2389;D10S2409;D11S3114;D15S1477;D8S2279;GDB:631813;RH98667;RH98731;RH99160;SHGC-78939;STS-AA005171;STS-N32787;WI-20953 DKFZp564G092;KIAA1593 HECT domain and RCC1-like domain-containing protein 4;OTTHUMP00000019692;OTTHUMP00000019693;OTTHUMP00000217539;OTTHUMP00000217540;OTTHUMP00000217541;hect domain and RLD 4;probable E3 ubiquitin-protein ligase HERC4 APPROVED protein-coding ENSG00000148634 24521 13646 609248 VALIDATED 1351757 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 4 4 4 q21 86810333 86926068 + 89732670 89848709 + 89513647 89629686 + 1580863;6480464;6907045 15676274;12477932;11163799;10702688;7584028;7584026;18535780;20379614;16196087;18029348;21900206;21987572;21139048;21890473;21906983;22124266;16344560;9575161 8916 B4DK41;C9J6Z1;C9J8E7;C9JFL2;C9JKA7;D6RAT5;F5GWU0;H0Y8G9;Q15034;Q8IXX3 ABBA01063555;ABBA01063556;ABBA01063557;AC098582;AC108065;AK289990;AK296379;AK296397;AMYH01014386;AMYH01014387;BC038960;BE044624;BE044630;BQ925135;CH471057;D25215;DA333248;NM_001271602;NM_014606 AAH38960;AAI66672;AAY41038;BAA04945;BAF82679;BAG59053;BAG59064;EAX06024;NP_001258531;NP_055421;Q15034 Hs.35804 1336764;1649435;1654003;1676674;1705270;1735402;1763731;1768501;1857638;2128520;2130681;2139078;2164869;2178996;7185311 1616;B337WH9;D4S1138;D4S1563;D4S2576E;D4S2809;D4S3162;RH12317;RH17389;RH25270;RH91176;SHGC-147404;SHGC-59261;SHGC-78587 KIAA0032 HECT domain and RCC1-like domain-containing protein 3;OTTHUMP00000197355;hect domain and RLD 3;probable E3 ubiquitin-protein ligase HERC3 APPROVED protein-coding ENSG00000138641 4876 16093 605200 REVIEWED 1346007 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008] 4 4 4 q22.1 86674807 86724000 + 89597291 89646337 + 89378268 89427321 + 1580863;6480464 20581239;10581175;17471231;16884686;16815975;16407192;15676274;15331633;14702039;11752456;12477932;18535780;20308324;18057259;12202226;16009940;21139048;21890473;21987572;22093708;22586326;22424883;22405323;22505724 51191 B4DXV3;E9PBL0;Q9UII4 AB027289;ABBA01063550;ABBA01063551;ABBA01063552;ABBA01063553;AC083829;AI336946;AK093155;AK301756;AK302142;AMYH01014385;AMYH01014386;AV657231;AY337518;BC140716;CH471057;NM_016323 AAI40717;AAR00320;BAA88519;BAG52666;BAG63217;BAG63515;EAX06020;NP_057407;Q9UII4 Hs.26663 1668674;1730351;2123673 D4S442E;G33451;SHGC-32389 CEB1;CEBP1 E3 ISG15--protein ligase HERC5;HECT E3 ubiquitin ligase;HECT domain and RCC1-like domain-containing protein 5;OTTHUMP00000161566;OTTHUMP00000219488;cyclin-E binding protein 1;cyclin-E-binding protein 1;hect domain and RLD 5;probable E3 ubiquitin-protein ligase HERC5 APPROVED protein-coding ENSG00000138646 24368 10502 608242 REVIEWED 1604433 HES3 hairy and enhancer of split 3 (Drosophila) 1 1 1 p36.31 5418756 5420142 + 6226849 6228225 + 6304252 6305638 + 6480464 18162467;16710414;15254753;15146197;17611704;23393614 390992 Q5TGS1 ABBA01035440;AL031847;AMYH01000210;AMYH01000211;CH471130;CN370501;CN413592;CX755241;NM_001024598 AAI56116;AAI56913;EAW71525;NP_001019769;Q5TGS1 Hs.532677 bHLHb43 OTTHUMP00000001390;class B basic helix-loop-helix protein 43;transcription factor HES-3 protein-coding ENSG00000173673 26226 18618 609971 VALIDATED 1353774 HES5 hairy and enhancer of split 5 (Drosophila) This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008] 1 1 p36.32 2450044 2451544 - 2460184 2461684 - 6480464;6907045;5135539 17586813 15156153;18524252;18354251;17388915;17093926;17072841;16710414;15254753;12477932;16365048;16214363;21495212;20091184;21238798;17611704;17849174;19682396;19855400;20972266 388585 Q5M8T3;Q5TA89 ABBA01016100;AL139246;AMYH01000175;AMYH01000176;BC087840;BX104111;CH471183;DQ272660;NM_001010926 AAH87840;ABB83829;EAW56096;NP_001010926;Q5TA89 Hs.57971 bHLHb38 OTTHUMP00000000867;class B basic helix-loop-helix protein 38;transcription factor HES-5 APPROVED protein-coding ENSG00000197921 19764 16240 607348 REVIEWED 1348683 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] 4 4 4 q22.1 86596361 86660787 + 89518915 89583272 + 89299891 89364249 + 1580863;6480464 15676274;15489334;14702039;12477932;8125298;18535780;18029348;21906983;22916037 55008 D6RCT4;H0Y9U0;Q9NWS4 ABBA01063548;ABBA01063549;ABBA01063550;AC083829;AF336798;AK000644;AK092403;AK097168;AK225506;AK295832;AL832670;AL833664;AMYH01014383;AMYH01014384;AY653201;AY653202;AY653203;BC035775;BC042047;BX647121;CH471057;FJ695209;NM_001165136;NM_017912 AAH35775;AAH42047;AAQ14893;AAV66895;AAV66896;AAV66897;BAA91303;BAC03879;BAG53428;BAG58647;CAI46056;CAI46151;EAX06018;EAX06019;NP_001158608;NP_060382;Q8IVU3 Hs.529317 1686200;2122030;2157974;2161909;5022576 D1S1361;G33622;RH94252;SHGC-24792;SHGC-51201 FLJ20637 HECT domain and RCC1-like domain-containing protein 6;OTTHUMP00000219485;OTTHUMP00000219487;hect domain and RLD 6;potential ubiquitin ligase;probable E3 ubiquitin-protein ligase HERC6 APPROVED protein-coding ENSG00000138642 26072 13647 609249 VALIDATED 1605640 HERPUD2 HERPUD family member 2 7 7 7 p14.2 35656891 35718541 - 35638794 35701254 - 35672269 35734772 - 6480464 19240061;16344560;15489334;14702039;12477932;17207965;19322201;23251661;23277564 64224 C9J4Q7;C9JDD7;C9JV48;Q9BSE4 AACC02000036;ABBA01056888;AC018647;AK025966;AK055708;AK315685;AMYH01017180;AMYH01017181;BC005091;BC020264;CH236951;CH471073;DA282706;DA778088;NM_022373 AAH05091;AAH20264;ADQ31762;BAB15300;BAG38050;BAG51558;EAL23973;EAW94050;EAW94051;EAW94052;EAW94053;EAW94054;EAW94055;NP_071768;Q9BSE4 Hs.643051 1691174;1697788;1712851;2132165;2181933;5015621 D11S3732;D7S1442;RH102418;RH120142;RH93918;STS-N32264 FLJ22313;FLJ31032 OTTHUMP00000158869;OTTHUMP00000207198;homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2;homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein protein-coding ENSG00000122557 21915 07984 VALIDATED 733943 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013] 16 16 q13 55523249 55535294 + 56965748 56977793 + 704470;1580863;6480464;6907045 10922362 18656546;10708769;19251110;18307982;18042451;17420289;17020760;16940180;16713569;16289116;16189514;15489334;14550564;12477932;12370023;12153396;11799129;11112790;9110174;8619474;8125298;7584026;16169070;19447887;19788048;20031564;20054003;20147634;20694148;20936779;20838585;20604806;21149444;17310145;16344560;21832049;21900206;21965653;23505323;21139048;21906983;21963094;23372434 9709 A4UAE9;H3BP08;H3BQM2;H3BRS4;H3BTA8;H3BTT7;H3BV54;Q15011;Q53FP9 AB034989;AB034990;ABBA01025255;ABBA01025256;AC012181;AF055001;AF055003;AF217990;AK223233;AK291565;AK292088;AK302167;AK304800;AMYH01007694;BC000086;BC008320;BC009739;BC032673;BG685245;BI520043;CD358537;CH471092;CR457116;D14695;DA581153;DQ837586;NM_001010989;NM_001010990;NM_001272103;NM_014685 AAC09355;AAC09357;AAG17233;AAH00086;AAH08320;AAH09739;AAH32673;ABI18163;ABM82793;ABW03443;BAA03521;BAB07891;BAB19010;BAD96953;BAF84254;BAF84777;BAG63534;BAG65550;CAG33397;EAW82892;EAW82893;EAW82894;NP_001010989;NP_001010990;NP_001259032;NP_055500;Q15011 Hs.146393 1653497;1663448;1685411 D16S3200;RH25263;SHGC-61031 HERP;KIAA0025;Mif1;SUP MMS-inducible;OTTHUMP00000164377;homocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 protein;homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein;methyl methanesulfonate (MMF)-inducible fragment protein 1 APPROVED protein-coding ENSG00000051108 13744 07456 608070 REVIEWED 1314231 HES7 hairy and enhancer of split 7 (Drosophila) This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p13.1 8051536 8055038 - 7965024 7968127 - 8023908 8027410 - 1580863;6480464;7240710;5135539 17586813 17611704;11260262;18775957;17081983;19423540;20406964;20438785;19913121;20087400;20628086;21963094;22744456 84667 J3KSH6;Q9BYE0 AB049064;ABBA01054897;AC129492;AMYH01008088;BC039887;BI259590;BU620502;CA432402;CH471108;NG_015816;NM_001165967;NM_032580 AAI56908;BAB39525;EAW90092;NP_001159439;NP_115969;Q9BYE0 Hs.434828 2139449;5492326 Hes7;humtgkql SCDO4;bHLHb37 bHLH factor Hes7;class B basic helix-loop-helix protein 37;hHes7;transcription factor HES-7 APPROVED protein-coding ENSG00000179111 15977 09729 608059;613686 REVIEWED 1354442 HES4 hairy and enhancer of split 4 (Drosophila) 1 1 1 p36.33 1654697 1655907 + 924207 925333 - 934342 935552 - 1580863;6480464 16710414;15489334;15254753;12477932;11260262;8889548;17611704;21666788;20211142;22797925 57801 D6REB3;E9PB28;Q9HCC6 AB048791;ABBA01016008;AL645608;AMYH01000104;BC012351;BI757407;BM128269;BM713553;CH471183;DB485006;HI574164;NM_001142467;NM_021170 AAH12351;ABM86416;BAB13510;CBX47571;EAW56296;NP_001135939;NP_066993;Q9HCC6 Hs.154029 bHLHb42 OTTHUMP00000038449;OTTHUMP00000221118;OTTHUMP00000221119;bHLH factor Hes4;class B basic helix-loop-helix protein 42;hHES4;transcription factor HES-4 protein-coding ENSG00000188290 24149 16273 608060 VALIDATED 1605434 HES1 hairy and enhancer of split 1, (Drosophila) This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008] 3 3 q28-q29 195336628 195339090 + 193853931 193856401 + 6480464;6907045;5135539 17586813 7906273;19453261;19321451;19118200;19116245;19058789;19039095;18821565;18719287;18599525;18550849;18524252;18491256;18274550;17822320;17388915;17301032;17072841;16894395;16365048;16322473;16253247;16214363;15563463;15536134;15492808;15156153;14722248;14702039;12972610;12535671;12477932;12406868;11756408;11748221;22333607;19891787;11486045;11238932;10851137;9745030;9389649;8687460;8020957;9874198;15546612;21125297;21103979;21984123;12065598;15467735;16160079;17681138;19322650;19603167;19724860;19808903;19861684;19880519;19935883;20022559;20091184;20515776;20832754;17611704;21169257;20668890;16195230;20816878;21224467;21238798;21106062;22871495;12032823;19682396;21495212;22318606;21139048;21890473;21900206;23037857;22036964;19322201;22411914;21988832;22846929;23423517;21866461;18611861;22705236 3280 Q14469;Q9BS99 ABBA01058278;AC080129;AF264785;AI370424;AK000415;AK300482;AMYH01013775;BC005178;BC039152;CH471052;CR541843;DW424342;L19314;NM_005524 AAA65220;AAF73060;AAH05178;AAH39152;AAI56517;AAI72546;ABM82254;ABM84280;ABM87672;BAA91149;BAG62198;CAG46641;EAW78058;NP_005515;Q14469 Hs.250666 1679638;1769096;2190755;5017783 HES1;RH93226;STS-L19314;UniSTS:265714 FLJ20408;HES-1;HHL;HRY;bHLHb39 OTTHUMP00000209031;class B basic helix-loop-helix protein 39;hairy homolog;hairy-like protein;transcription factor HES-1 APPROVED protein-coding ENSG00000114315 5192 00770 139605 REVIEWED 736308 HES2 hairy and enhancer of split 2 (Drosophila) 1 1 1 p36.31 5589803 5594490 - 6397883 6402566 - 6475292 6479979 - 1580863;6480464 16710414;17611704;15489334;15254753;14702039;12477932;9570950;8889548 54626 K7EJN2;K7EJQ0;Q9Y543 ABBA01035449;AK023754;AK091122;AL031848;AMYH01000212;BC012091;BC132698;BC136963;BC142687;BU729177;CH471130;NM_019089 AAH12091;AAI32699;AAI36964;AAI42688;BAG52286;EAW71533;EAW71534;NP_061962;Q9Y543 Hs.118727 5015619;5020946;5020948;5109281 D11S3114;D1S1425;G35510;L17971 bHLHb40 OTTHUMP00000000825;class B basic helix-loop-helix protein 40;transcription factor HES-2 protein-coding ENSG00000069812 16005 13649 609970 VALIDATED 1602417 HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 17 17 17 q25.3 76968356 76992266 + 77969541 77993805 + 80376252 80400516 + 6480464 19040401;16169070;12477932;21265931;22515481;23099419;21672370 284004 J3KRH3;J3KS46;J3KT84;J3KTD0;J3QKL0;J3QKU6;J3QLN1;J3QS29;K7EIV9;K7EK54;Q8WVB3 ABBA01019679;AC132938;AK074405;AK295197;AK316085;AMYH01008732;AMYH01008733;BC018205;BC035561;CH471099;DN999062;FM204887;NM_173620 AAH18205;AAH35561;ADZ16020;BAB85072;BAH12009;BAH14456;CAR57925;EAW89771;EAW89772;EAW89773;EAW89774;EAW89775;NP_775891;Q8WVB3 Hs.744207 1696972;2179889 G06994;RH101958 FLJ23825 N-acetyl-beta-galactosaminidase;beta-N-acetylhexosaminidase;beta-hexosaminidase D;hexosaminidase D;hexosaminidase domain-containing protein protein-coding ENSG00000169660 26307 08677 VALIDATED 5684570 HEXDC-IT1 HEXDC intronic transcript 1 (non-protein coding) 17 q25.3 80383374 80385186 + 100505970 Q6ZP64 ABBA01019679;AC132938;AK129961;AMYH01008732;XR_158908;XR_159299;XR_172231 BAC85260 Hs.689403 5015861;5022463;5022578 D10S16;D1S1423;D3S1673 HEXDC intronic transcript 1 (non-protein coding) miscrna 43650 MODEL 1352150 HEXA hexosaminidase A (alpha polypeptide) This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] 15 15 q24.1 70422832 70455457 - 72635778 72668520 - 1580863;6480464;6907045;7240710 16169070;22147196;17474147;6230359;19298806;18490185;18425478;18217416;16776631;16710745;16698036;16212960;16088929;15953731;15489334;15345116;15342556;14727180;14648242;14566483;12477932;12413610;12180151;11180612;11170098;10571007;9603435;9401008;9375850;9338583;9272736;9222766;9217013;9150157;9090523;8757036;8673609;8663217;8652542;8634145;8581357;8490625;8445615;8328470;8125298;7951261;7902672;7898712;7887427;7837766;7717398;3754980;3375249;3362213;3013851;2973311;2971395;2970528;2965147;2964446;2952641;2933746;2848800;2837213;2531748;2522679;2522660;2278539;2220821;2144098;2141777;2140574;2137287;1996872;1837283;1833974;1832817;1830584;1829032;1827945;1825792;1825014;1533633;1532289;1483696;1384323;1318511;1307230;1302612;1301938;1301190;1301189;1054503;808963;19858779;19876898;20301397;22863883;22723944;21307379;20000738;21637923;21967858;19732345;21796138;22441121;22789865 3073 B4DKE7;E9PGL4;H3BP20;H3BQ04;H3BRP6;H3BS10;H3BT62;H3BTD4;H3BU85;H3BVH8;P06865 ABBA01038728;ABBA01038729;AC009690;AK222502;AK296528;AK297678;AK301000;AK301138;AK307770;AK310154;AMYH01006762;BC001138;BC018927;BC021030;BC034424;BC084537;BP356349;BX537989;CH471082;CR627386;DC356933;M13520;M16411;M16424;NG_009017;NM_000520;S61298;S62076;S76980 AAA51827;AAB00965;AAB33748;AAD13927;AAD13932;AAH01138;AAH18927;AAH21030;AAH84537;ABM83622;ABW03529;BAD96222;BAG59159;BAG60039;BAG62619;BAG62730;CAH10482;EAW77902;NP_000511;P06865 Hs.604479;Hs.709495 1676456;1725019;1740921;1740923;1740981;1741097;1741885;1741887;1769470;2129495;2138336;2145892 GDB:176311;GDB:176312;GDB:177101;GDB:177773;GDB:186545;GDB:186546;RH118806;RH44590;RH98547;SHGC-33452;SHGC-35689;WI-7120 MGC99608;TSD N-acetyl-beta-glucosaminidase subunit alpha;OTTHUMP00000164647;beta-N-acetylhexosaminidase subunit alpha;beta-hexosaminidase subunit alpha;hexosaminidase subunit A APPROVED protein-coding ENSG00000213614 4878 06040 272800;606869 REVIEWED 1323828 HES6 hairy and enhancer of split 6 (Drosophila) This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008] 2 2 q37.3 238811647 238813409 - 239146908 239148681 - 1580863;6480464 19891787;10851137;19058789;18160400;17826772;17301032;17300753;17213182;15896295;15815621;15489334;14702039;12972610;12957362;12477932;11551980;11044617;22982728;19481584;17611704;21785461;21983900 55502 B8ZZA9;B8ZZP9;B9A070;C9JF41;H7C020;H7C1R4;Q96HZ4 AB035179;ABBA01042604;ABBA01042605;AC016757;AF260237;AK075040;AK293111;AMYH01011604;AMYH01011605;BC007939;CH471063;CS061206;DT217800;NM_001142853;NM_018645 AAH07939;AAK51634;AAY24337;BAA96082;BAC11368;BAF85800;CAI79369;EAW71149;EAW71150;EAW71151;EAW71152;NP_001136325;NP_061115;Q96HZ4 Hs.42949 1695330;1768239;1795970 HES6_1699;RH69252;SHGC-64752 HES-6;bHLHb41;bHLHc23 C-HAIRY1;OTTHUMP00000164479;OTTHUMP00000202609;OTTHUMP00000202610;OTTHUMP00000202611;OTTHUMP00000202612;OTTHUMP00000202613;class B basic helix-loop-helix protein 41;transcription cofactor HES-6 APPROVED protein-coding ENSG00000144485 18254 11021 610331 REVIEWED 1353119 HESX1 HESX homeobox 1 This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008] 3 3 p14.3 57207265 57209320 - 57231944 57234280 - 1580863;1601424;6480464;7240710 9620767 17587179;18728160;17931718;16940453;16424673;15489334;14714741;14646405;14561704;14557462;12519827;12477932;12424431;12063185;11748154;11731482;11283314;11136712;9373136;8696006;7876132;17148560;20694410;20181723;20211142;20949537;19561080;20534763;21325470;9751061;21270112;21761366;23455924;23465708 8820 C9J0A9;J3KR67;Q9UBX0 ABBA01024425;AC093928;AF059734;AI652412;AMYH01013220;BC069515;BC093979;BC112089;CH471055;NG_008242;NM_003865;U65437 AAB39561;AAC24523;AAH69515;AAH93979;AAI12090;ABZ92199;EAW65333;EAW65334;NP_003856;Q9UBX0 Hs.171980 2167062 RH48343 ANF;CPHD5;MGC138294;RPX OTTHUMP00000213130;OTTHUMP00000213131;Rathke pouch homeobox;hAnf;homeo box (expressed in es cells) 1;homeobox expressed in ES cells 1;homeobox protein ANF;homeobox, ES cell expressed 1 APPROVED protein-coding 4877 03482 182230;601802 REVIEWED 1316898 HEXB hexosaminidase B (beta polypeptide) Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). [provided by RefSeq, Jul 2008] 5 5 q13 74016767 74052869 + 73980969 74017113 + 1599422;1599424;1580863;6480464;6907045;7240710 2147027;1720305 8663217;6230359;19278737;18930675;18758829;18588514;18552385;18217416;18204279;18180457;17251047;16710745;16352452;15953731;15489334;15485660;15459180;14702039;12754519;12706724;12662933;12477932;12413610;2579389;2525487;2522450;2170400;2147427;2139028;1967020;1825792;1531140;1487253;1386607;1054503;11447134;10982028;10591618;10571007;9888387;9856491;9694901;9401004;8950198;8673609;8634145;8357844;8106452;8045559;7633435;7626071;7557963;7299841;7177110;6959123;3013851;2977375;2971395;2971039;2966076;2965147;2964638;2948136;2921040;19913121;20628086;19615986;20800603;21307379;21637923;23046579;22863883;21890473;21906983;23349634;21321400;21900206;21978926;22789865;22191674;22848519;22863301 3074 D6REQ8;H0Y9B6;H0Y9M3;H0YA83;P07686;Q5URX0 ABBA01061933;ABBA01061934;AC026405;AC093214;AF378118;AK122992;AK130002;AK130375;AMYH01015407;AY643499;BC017378;BE907813;BT009919;CH471084;D10520;M13519;M19735;M23282;M23294;M34906;NG_009770;NM_000521 AAA51828;AAA51829;AAA52645;AAA68620;AAH17378;AAM46114;AAP88921;AAV48875;ADZ15570;EAW95741;EAW95742;NP_000512;P07686 Hs.69293 1672097;1678375;1735492;2121650;5016578;5108181 D5S1611E;GDB:615686;RH92711;SGC32640;SHGC-32009;STS-R97079 ENC-1AS HCC-7;N-acetyl-beta-glucosaminidase subunit beta;OTTHUMP00000128232;OTTHUMP00000222053;beta-N-acetylhexosaminidase subunit beta;beta-hexosaminidase subunit beta;cervical cancer proto-oncogene 7 protein;hexosaminidase subunit B APPROVED protein-coding ENSG00000049860 4879 06043 268800;606873 REVIEWED 1601726 HEXIM2 hexamethylene bis-acetamide inducible 2 17 17 17 q21.31 39947916 39957031 + 40594047 40603189 + 43238264 43247406 + 6480464 15713662;15713661;15965233;15334068;15302935;14702039;12832472;12477932;15992410;18029348;15994294;17643375;19430483;19883659;17207965;21044950;18281698;18655042;22355797;22377309 124790 K7EIM4;K7EJA3;K7ELS4;K7ERG7;K7ESM2;Q96MH2 ABBA01028324;ABBA01028325;AC138150;AK056946;AMYH01008439;AY598322;BC003531;BC012474;BC025970;CH471178;NM_144608 AAH03531;AAH12474;AAH25970;AAT06733;ADQ32160;BAB71319;EAW51541;EAW51542;NP_653209;Q96MH2 Hs.56382 1775480;2159236 RH78214;SHGC-30043 FLJ32384;L3 MAQ1 paralog;hexamethylene bis-acetamide-inducible protein 2;hexamethylene-bis-acetamide-inducible transcript 2;hexamthylene bis-acetamide inducible 2;protein HEXIM2 APPROVED protein-coding ENSG00000168517 28591 08129 PROVISIONAL 1354369 HEY2 hairy/enhancer-of-split related with YRPW motif 2 This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 6 6 q21 126112425 126124108 + 126070732 126082415 + 1580863;70528;6480464;5135539 11741889;17586813 16189514;16165016;10415358;18266235;18239137;16329098;16293227;16151017;15680351;15643620;15489334;15389319;14574404;12548545;12535671;12477932;11486045;11486044;11095750;10924525;10860664;10710309;10692439;21290414;16043483;15485867;15821257;17611704;21362320;17217622;22310065;12372254 23493 Q5TF93;Q9UBP5 AB044755;ABBA01025947;AF173901;AF232238;AF237949;AF311884;AJ249545;AK289943;AK303890;AL078594;AMYH01016647;BC007707;BI549391;BT020067;BT020068;CH471051;NM_012259 AAF20173;AAF37296;AAF44781;AAG31157;AAH07707;AAV38870;AAV38871;BAA96781;BAF82632;BAG64825;CAB56839;EAW48135;NP_036391;Q9UBP5 Hs.144287 1695758;1781190;1797682 HEY2_2351;SHGC-78750;stHey2seq CHF1;GRIDLOCK;GRL;HERP1;HESR2;HRT2;MGC10720;bHLHb32 HES-related repressor protein 1;HES-related repressor protein 2;HESR-2;HRT-2;OTTHUMP00000017138;OTTHUMP00000017139;cardiovascular basic helix-loop-helix factor 1;cardiovascular helix-loop-helix factor 1;class B basic helix-loop-helix protein 32;hCHF1;hHRT2;hairy and enhancer of split-related protein 2;hairy-related transcription factor 2;hairy/enhancer-of-split related with YRPW motif protein 2;protein gridlock homolog APPROVED protein-coding ENSG00000135547 4881 05243 604674 REVIEWED 1606576 HEXIM1 hexamethylene bis-acetamide inducible 1 Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008] 17 17 q21.31 40580467 40585251 + 43224684 43229468 + 6480464 14580347;15713661;15941832;22095517;12581153;18801933;18757415;18407829;18371977;17937499;17724342;17709395;16382153;16362050;16222702;15994294;15992410;15965233;15940264;15855166;15713662;15201869;15169877;15109492;14702039;12832472;12477932;12119119;10737800;20453883;20029029;20808803;16980611;17643375;18029348;18039861;19430483;19617712;19883659;20201073;20210365;20976203;22863883;22939629;16109377;23000965;23300697;23455922;21044950;21030982;21139048;21906983;22033481;22342181;17531811;22483617;17314519;17341462;17576689;18281698;18483487;18655042;18773076;19275730;19387490;19716452;20562857;20683478;21360054;22100159;22377309;22422068;22948151 10614 O94992 AB021179;ABBA01028325;AC142472;AI092623;AK023624;AK313557;AL521530;AL562001;AMYH01008439;AW881781;BC006460;BQ777682;BX111838;CA448958;CA946973;CV810471;DB539383;NM_006460 AAH06460;ABM84198;ABM87157;ABM87602;BAA36166;BAG36332;BAG51211;NP_006451;O94992 Hs.586945;Hs.741758;Hs.745252 1687790;1774629 BCD3293;RH99112 CLP1;EDG1;FLJ13562;HIS1;MAQ1 HMBA-inducible;cardiac lineage protein 1;estrogen down-regulated gene 1 protein;hexamethylene bis-acetamide-inducible protein 1;hexamethylene bisacetamide-inducible protein;hexamethylene-bis-acetamide-inducible transcript 1;hexamthylene bis-acetamide inducible 1;menage a quatre 1;menage a quatre protein 1;protein HEXIM1 APPROVED protein-coding ENSG00000186834 24953 09544 607328 REVIEWED 735762 HEY1 hairy/enhancer-of-split related with YRPW motif 1 This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 8 8 q21 80838800 80842653 - 80676245 80680098 - 1334460;1580863;6480464;5135539 12548545;17586813 10415358;19453261;19369342;18986983;18363832;18239137;17496152;17028039;16344560;16165016;15749835;15684393;15680351;15489334;15342556;15314183;14702039;12477932;12453432;11486044;11095750;10964718;10860664;10692439;10403790;8125298;11279181;11585921;15231748;16043483;19802006;19917614;19857617;11866539;21290414;11486045;15485867;17611704;22036964;23226563;22034177;17259303;19322201;23252872 23462 B4DEI9;E5RHK6;Q9Y5J3 ABBA01004075;AC016240;AF151522;AF176422;AF232239;AF254637;AF311883;AJ272214;AJ277506;AK074641;AK092437;AK226041;AK313271;AMYH01018817;BC001873;BP283540;BT020065;CH471068;DA561783;NM_001040708;NM_012258 AAD38967;AAD51749;AAF37297;AAG31156;AAH01873;AAL06278;AAV38868;ADZ16016;BAC03890;BAG36080;BAG51980;CAB75715;CAB90212;EAW87066;NP_001035798;NP_036390;Q9Y5J3 Hs.234434 1797680;2125292 HEY1_2154;RH12790 BHLHb31;CHF2;HERP2;HESR1;HRT-1;MGC1274;OAF1 HES-related repressor protein 1;HES-related repressor protein 2;OTTHUMP00000227098;OTTHUMP00000227101;OTTHUMP00000227683;basic helix-loop-helix protein OAF1;cardiovascular helix-loop-helix factor 2;class B basic helix-loop-helix protein 31;hHRT1;hairy and enhancer of split-related protein 1;hairy-related transcription factor 1;hairy/enhancer-of-split related with YRPW motif protein 1 APPROVED protein-coding ENSG00000164683 4880 04260 602953 REVIEWED 1312805 HEYL hairy/enhancer-of-split related with YRPW motif-like This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 38370855 38387100 - 39861690 39877935 - 40089103 40105348 - 1580863;6480464;5135539 17586813 10415358;10964718;15485867;17611704;16189514;16165016;15231748;12548545;12477932;11095750;10924525;10860664;8889548;21832049;21290414;20211142;21454491;21906983;23222517;23275563 26508 F5H3V9;Q9NQ87 ABBA01023206;AF311885;AJ272215;AK300463;AL035404;AL541019;AMYH01000524;BC006087;BM682076;CH471059;NM_014571 AAG31158;AAH06087;ABZ92400;BAG62182;CAB75716;EAX07260;NP_055386;Q9NQ87 Hs.472566 1678193;1760825;2139034;5492309 D1S3560;Heyl;RH92719;SHGC-144470 HESR3;HEY3;HRT3;MGC12623;bHLHb33 HEY-like protein;HRT-3;OTTHUMP00000000536;class B basic helix-loop-helix protein 33;hHRT3;hHeyL;hairy-related transcription factor 3;hairy/enhancer-of-split related with YRPW motif 3;hairy/enhancer-of-split related with YRPW motif-like protein APPROVED protein-coding 4882 16419 609034 REVIEWED 2305638 HEXA-AS1 HEXA antisense RNA 1 15 15 15 q23 49554622 49557297 + 70455567 70456379 + 72668454 72671129 + 15489334;14702039;12477932 80072 Q9H8Q6 ABBA01038728;AC009690;AK023377;AMYH01006762;BC068211;CH471082;NG_009017;NR_027262 BAB14550;EAW77903;Q9H8Q6 Hs.591113 1741885 GDB:186545 C15orf34;FLJ13315 APPROVED miscrna ENSG00000260339 25810 VALIDATED 1350126 HGPPS horizontal gaze palsy with progressive scoliosis 7240710 12177379 338404 20666 607313 1320952 HFE2 hemochromatosis type 2 (juvenile) The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008] 1 1 q21.1 144124635 144128902 + 145413191 145417545 + 1599478;6480464;6484113 14647275 17207965;20593054;19252486;19214511;19029439;18827264;18762941;18725184;18445598;18421430;18335997;18326817;18287331;17938254;17869549;17847004;17768121;17339196;17264300;16932966;16344560;16103673;16103117;15998830;15710580;15685557;15611318;15610558;15590393;15489334;15461631;15315789;15254010;15194541;15138164;14982873;14982867;14702039;12477932;10205270;9465039;8125298;20704562;21039223;20530805;20549515;20587610;19287179;19564337;19787796;19847924;20937842;20301349;21088809;22728873;22893705;16075058;21863061;22398782;22365732;22076499;19357398 148738 A8K466;F8W6J7;Q6ZVN8 AA479148;ABBA01005748;AC243547;AK092682;AK092692;AK096905;AK124273;AK223575;AK290831;AK292742;AK315852;AL138842;AL355505;AMYH01001373;AY372521;BC017926;BC085604;CH471244;CS573001;CS607654;DB035674;DQ309445;GN062681;GN081991;NG_011568;NM_145277;NM_202004;NM_213652;NM_213653 AAH17926;AAH85604;AAR22390;ABC40718;ADQ32250;BAC03944;BAC03947;BAC04890;BAC85823;BAF83520;BAF85431;BAF98743;CAI22091;CAI22092;CAI22349;CAI22350;CAN86494;CAO00462;CAX62674;CAX86829;EAW71407;EAW71408;EAW71409;NP_660320;NP_973733;NP_998817;NP_998818;Q6ZVN8 Hs.632436 1665961;1671416;1671418;1848882;2149262 A005K39;Bdab5d06;G20291;RH17510;SHGC-33871 HFE2A;HJV;JH;MGC23953;RGMC OTTHUMP00000015582;OTTHUMP00000015583;OTTHUMP00000218197;OTTHUMP00000218198;OTTHUMP00000218199;RGM domain family member C;haemojuvelin;hemochromatosis type 2 protein;hemojuvelin;repulsive guidance molecule c APPROVED protein-coding ENSG00000168509 4887 10521 608374 REVIEWED 1606438 HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1 1 1 p22.2 89974186 90118312 - 91498911 91643014 - 91726323 91870426 - 6480464 17286053;14702039;12477932;20800603;20379614 164045 A2PYH4;A6NGI5;C9JA44;C9JQ07;C9JQP7;H0Y3X7 AB044787;AB044788;AB058636;AB058637;AB074274;AB204867;ABBA01045565;ABBA01045566;AC098691;AK094079;AK096330;AK294754;AK302582;AMYH01000787;AMYH01000788;BC062793;BC130525;BC132823;BC144172;BC144198;BX323048;BX649037;CH471097;DT932601;NM_001017975 A2PYH4;AAI44173;AAI44199;BAC04281;BAF45466;BAG53262;BAG57893;BAG63837;BAI63262;BAI63263;BAI63264;BAI63265;EAW73116;NP_001017975 Hs.454818 1644016;1684568;1685966;1749395;1781444;2151946;2154453;2166031 D1S3426;RH11787;RH17908;RH66123;RH92497;SGC35814;SHGC-111139;SHGC-112033 FLJ36760;FLJ39011;MER3;MGC163397;RP11-539G11.1;SEC63D1;Si-11;Si-11-6;helicase OTTHUMP00000196537;SEC63 domain containing 1;SEC63 domain-containing protein 1;helicase-like protein HFM1;probable ATP-dependent DNA helicase HFM1 protein-coding ENSG00000162669 20193 13423;18568 VALIDATED 1345296 HFE hemochromatosis The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 6 6 p21.3 26195427 26205038 + 26087509 26095469 + 1582673;1358657;1582684;1582695;1582697;1582671;1582685;1582687;1582672;1601449;1601452;1601460;1580863;6480464;7240710;7207252;7207253 12746412;15060098;16886838;11545759;10491370;15175819;16102632;11040018;12850485;10705106;11473047;12105842;8696333;11134514 19775775;20301340;20301613;20686565;21384276;21696736;21701828;21909110;21909115;21643746;21943158;21947086;22098612;22122796;22196777;22232660;10638746;10085150;19433916;19429178;19422651;19420105;19384175;19359997;19291797;19271219;19267193;19264516;19258483;19254567;19237423;19228389;19222337;19165391;19159930;19115475;19084217;19074885;19059216;19030706;19018338;19008010;19002551;19001803;18987350;18848943;18846434;18842428;18820912;18810584;18809758;18795173;18762941;18705322;18689356;18683048;18676680;18675463;18665827;18657084;18633618;18593631;18566337;18565609;18565178;18542962;18525129;18524764;18521456;18500222;18470614;18462792;18460494;18452683;18429050;18419350;18403938;18395717;18363869;18353247;18327584;18325820;18317757;18300942;18289891;18284459;18276042;18273820;18263976;18201677;18199861;18194242;18182079;18164971;18079565;18073584;18061976;18061182;18054440;18042412;18036208;18025780;18005180;17976429;17973580;17959863;17956864;17949288;17924859;17916170;17895769;17878720;17847004;17828789;17767550;17729389;17724144;17722428;17718867;17710673;17687449;17680648;17661915;17661761;17654685;17650303;17637512;17628213;17626021;17598005;17597476;17589946;17585191;17573946;17565641;17543888;17525682;17474269;17420932;17410459;17401564;17389307;17362299;17313717;17308297;17303462;17299255;17298224;17297430;17284543;17279416;17240320;17235517;17228846;17212677;17210810;17194693;17160266;17160239;17145987;17137171;17135308;17116317;17108759;17107905;17101320;17079357;17067586;17065702;17062032;17061732;17058523;17056630;17047092;17042772;17013646;17011669;17006922;17003003;17001480;16990695;16979952;16968463;16964543;16950433;16936157;16935420;16893896;16878186;16849282;16847405;16841247;16838333;16824219;16806233;16802538;12198660;12190182;12180078;12148086;12145797;12140659;12117686;12098643;12085358;12077102;12064915;12059121;12045778;12036461;12010659;12003382;12002748;11960577;11960574;11953685;11943417;11940510;11939483;11938026;11929045;11904676;11903355;11903354;11901060;11887210;11886966;11886425;11875012;11874997;11869934;11857056;11855561;11840200;11836162;11812557;11809727;11804665;11800564;11788568;11783942;11781701;11774187;11763282;11738096;11730630;11722599;11700156;11686223;11680538;11673657;11579943;11564085;11529872;11500066;11500061;11499833;11495086;11488107;11479183;11478530;11474212;11469076;11454185;11446670;11445256;11436126;11423500;11399207;11394651;11386022;11380589;11358905;11358395;11358357;11332643;11325323;11260010;11257277;11242801;11199371;11168438;11159767;11151887;11114141;11108765;11096344;11079015;11069625;11057879;11051367;11027676;11018711;11001625;10791995;10612845;10575540;10431233;10401000;10381492;10194428;10094552;10079302;9869618;9620340;9585606;9548560;9546397;9465039;9462220;9439654;9425935;9371823;9356458;9341868;9326341;9321765;9211748;9162021;9149941;9138148;9122230;9106528;9024376;8896550;16802007;16755236;16728543;16678024;16672055;16649670;16638105;16615226;16615007;16584391;16583477;16537242;16520984;16503999;16468045;16454835;16451136;16433696;16414021;16399493;16393683;16364490;16337066;16324464;16315134;16314188;16306377;16285477;16273299;16225403;16222171;16216474;16210711;16186539;16178952;16174659;16174459;16157826;16140024;16138214;16123136;16113552;16113534;16105133;16103673;16055358;16047841;16043695;16039334;16012706;16011012;16003728;15995871;15991291;15990686;15965644;15956653;15955425;15941956;15941661;15929798;15929796;15914210;15894659;15894495;15885363;15880641;15863667;15863206;15858186;15840699;15834437;15817857;15815212;15802547;15789881;15785438;15780041;15777346;15775751;15763983;15740492;15727249;15710569;15698609;15684872;15673318;15668853;15668490;15654232;15643457;15642540;15637751;15610558;15607698;15581829;15570296;15566515;15546588;15538648;15531451;15528154;15517265;15503019;15498100;15489334;15483651;15477198;15467009;15447900;15389541;15388046;15377292;15363617;15352740;15347835;15338274;15319650;15304122;15304010;15302000;15293136;15287851;15280838;15273174;15266614;15259508;15223008;15222129;15182337;19214511;15151632;15141324;15136693;15121519;15101996;15099342;15075083;15070663;15061375;15056661;15044462;15042317;15025725;15018631;15017669;15017658;15013567;14996353;14973098;14972004;14966054;14765621;14759258;14752836;14742317;14740507;14729817;14706682;14703689;14703688;14675248;14673107;14671617;14671616;14670915;14667749;14648375;14642607;14641999;14636644;14635204;14633868;14618419;14557859;14503989;14499790;12972035;12972032;12961032;12952143;12948285;12942784;12940442;12923017;12915468;12907432;12902032;12885340;12874382;12870733;12865759;12865278;12851225;12850493;12846904;12792703;12791037;12783844;12779071;12770794;12763366;12745279;12737949;12714823;12714263;12714262;12712916;12707938;12707220;12699243;12691865;12681966;12673276;12673077;12667993;12667138;12662406;12656741;12651261;12635863;12624489;12622622;12614226;12601293;12591066;12589228;12586300;12584430;12568299;12557137;12547216;12542741;12542499;12537659;12529348;12514663;12512743;12508966;12508400;12505233;12482402;12477932;12464008;12446481;12445428;12445415;12445172;12436244;12429850;12427496;12406023;12394323;12384978;12380399;12377814;12364722;12361551;12241803;12241015;12207823;3460331;2307464;1517564;896549;678784;21407826;21665994;20618438;20007136;21426887;19913121;20485444;20555268;20560808;20563578;20575041;20583211;20586792;20587610;20594259;20607553;20628086;20640879;20642366;20642794;20659343;20669231;20673159;20714725;20722701;20739079;20800508;20813792;20814896;20817350;21569394;19706067;19759876;20858683;20927387;20950210;20954257;20957336;20974500;21039223;21067572;19853236;19170196;19375516;19380292;19481774;19487139;19500086;19515364;19541813;19554541;19602897;19625176;19640812;19656448;19673882;19681031;19692168;19711434;19715939;19731820;19732172;19734422;19747287;19787796;19799358;19806355;19819738;19820015;19820697;19820698;19820699;19822954;19852572;19862010;19874572;19876870;19879168;19884647;19893773;19931264;19948245;19958990;19960042;20008199;20019189;20029940;20031541;20031565;20060900;20073670;20084012;20097100;20099304;20101754;20107990;20117027;20145272;20160468;20164577;20178892;20190684;20193033;20194081;20196837;20199637;20208481;20216079;20218273;20337854;20345568;20400082;20424537;20437058;20447705;20464957;20478760;20503453;20805500;20027482;20670400;21149283;20675164;21208937;21190189;22611049;22942096;23289212;20634490;21082925;21165552;22098610;22481680;20734416;20843714;22425014;21349849;21412944;21796974;21228038;23018356;23178241;21669570;21145803;21332426;21411349;21701160;20392616;21925577;21932715;21245296;21674831;22183642;22354660;22145371;22504868;23389292;22209421;22362121;22720276;21243428;21736562;21822737;22012716;22297603;21354231;21553046;21625954;21785125;22048270;22118647;22183944;22565179;22624560;22728873;23281741;21483845;23446634;23222517;23263863;23413885;23468552;23340149;22530027;22908207;22890139;23154866 3077 F8W7W8;H7C4K4;Q6B0J5;Q96KU7 ABBA01066552;AF079407;AF079408;AF079409;AF109385;AF115264;AF115265;AF144240;AF144242;AF147392;AF149804;AF184234;AF204869;AF331065;AF525359;AF525499;AJ249335;AJ249336;AJ249337;AJ249338;AJ250635;AJ298839;AJ298840;AJ404378;AK293393;AK300933;AK316502;AMYH01016162;AY205604;BC074721;BC117201;BC117203;BC143887;CH471087;CS187189;EU523119;JN375752;JN375753;JN375754;JN375755;JN375756;JN375757;JN375758;JN375759;NG_008720;NM_000410;NM_139003;NM_139004;NM_139006;NM_139007;NM_139008;NM_139009;NM_139010;NM_139011;U60319;U80914;U91328;Y09801;Z92910 AAB82083;AAC51823;AAC62646;AAC62647;AAC62648;AAD00449;AAD52104;AAF01222;AAG29342;AAG29571;AAG29572;AAG29575;AAG29577;AAH74721;AAI17202;AAI17204;AAK16502;AAM82608;AAM91950;AAO47091;ACB21042;ADR82951;AEO50365;AEO50366;AEO50367;AEO50368;AEO50369;AEO50370;AEO50371;AEO50372;BAG56902;BAG62562;BAH14873;CAA70934;CAB07442;CAC67792;CAC67793;CAC67794;CAC67795;CAC80805;CAJ42862;EAW55516;EAW55517;EAW55518;EAW55519;EAW55520;EAW55521;EAW55522;EAW55523;EAW55524;EAW55525;EAW55526;EAW55527;NP_000401;NP_620572;NP_620573;NP_620575;NP_620576;NP_620577;NP_620578;NP_620579;NP_620580;Q30201 Hs.233325 1793042;1793100;1793102;1793980;1850535;2125240;2133434;2142169;2150961;2165723;2217418;5022578;5022651 A004R25;D11S2921;D1S1423;D6S2377;HFE_3382;PMC19311P1;PMC196491P2;PMC196491P3;PMC310725P1;RH46637;RH46796;STS-U60319;WI-17546 HFE1;HH;HLA-H;IMAGE:40125754;MGC103790;MGC:150812;MVCD7;TFQTL2;dJ221C16.10.1 MHC class I-like protein HFE;OTTHUMP00000215786;OTTHUMP00000215787;OTTHUMP00000215788;OTTHUMP00000215789;OTTHUMP00000215790;OTTHUMP00000215791;OTTHUMP00000215792;OTTHUMP00000215793;OTTHUMP00000215816;OTTHUMP00000215817;OTTHUMP00000215818;hereditary hemochromatosis protein;hereditary hemochromatosis protein HLA-H;high Fe 2301165 PRSTS379_H APPROVED protein-coding ENSG00000010704 4886 01993 104300;176100;176200;235200;612635;613609;614193 REVIEWED 1350664 HGFAC HGF activator The protein encoded by this gene belongs to peptidase family S1. It is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. [provided by RefSeq, Jul 2008] 4 4 p16 3413524 3421011 + 3443726 3451213 + 1580863;6480464 15713485;7683665;8226803;14718574;18691255;18422749;18221492;16335952;16189274;15340161;15172968;12477932;11201608;11013244;9874200;9346890;9045658;8631970;1838014;1368819;19456860;20424473 3083 D6RAR4;Q04756 ABBA01029469;AK314099;AL590235;AMYH01013890;BC112190;BC112192;CH471131;D14012;D50030;NM_001528;Z69923 AAI12191;AAI12193;BAA03113;BAA74450;EAW82464;NP_001519;Q04756 Hs.104 1683407;2191261;5113848 MARC_16871-16872:1015445619:1;RH66538;SHGC-67315 HGFA;MGC138395;MGC138397 OTTHUMP00000115316;OTTHUMP00000217082;hepatocyte growth factor activator APPROVED protein-coding ENSG00000109758 4894 05184 604552 REVIEWED 6481321 HHATL-AS1 HHATL antisense RNA 1 100874044 AC006059 APPROVED miscrna 42439 1344080 HHC2 hypocalciuric hypercalcemia 2 7240710 8317484 3086 4899 1343441 HHC3 hypocalciuric hypercalcemia 3 (Oklahoma type) 7240710 9915958 9151 4900 600740 1318713 HGD homogentisate 1,2-dioxygenase This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010] 3 3 q13.33 121829705 121884018 - 120347015 120401418 - 1599472;1580863;6480464;6907045;7240710 8782815 21044950;18945288;16344560;16085442;15489334;14702039;12872836;12477932;11181995;10876237;10594001;10482952;10340975;10205262;9674916;9630082;9529363;9244427;9154114;9069115;8581831;8252048;8188241;19862842;20201926;20301627;20462779;16787403;17207965;22105303;20467438;21988832;23353776;21720873;21437689 3081 C9JTX9;H7C4R8;H7C576;H7C5G7;Q93099 AA861603;AADB02004670;ABBA01016492;ABBA01016493;AC009289;AC126182;AC133474;AF000573;AF045167;AK124291;AK290782;AK313563;AMYH01013424;BC020792;BC071757;CH471052;DA872983;DB231845;NG_011957;NM_000187;U63008;Z75048 AAB16836;AAC02698;AAC51650;AAH20792;AAH71757;ACE86524;ACE87203;ADQ32072;BAF83471;BAG36337;BAG54026;CAA99340;EAW79522;EAW79523;EAW79524;NP_000178;Q93099 Hs.368254 1674406;1686124;2113240;2113242;2175825;2176192 D3S4496;D3S4497;RH74992;SHGC-17243;SHGC-33308;WI-11587 AKU;FLJ94126;HGO OTTHUMP00000215350;homogentisate 1,2-dioxygenase;homogentisate oxidase;homogentisate oxygenase;homogentisic acid oxidase;homogentisicase APPROVED protein-coding ENSG00000113924 4892 06315 203500;607474 REVIEWED 1354150 HHG hypergonadotropic hypogonadism 2791656 3088 4902 70837 HGF hepatocyte growth factor (hepapoietin A; scatter factor) Hepatocyte growth factor regulates cell growth, cell motility, and morphogenesis by activating a tyrosine kinase signaling cascade after binding to the proto-oncogenic c-Met receptor. Hepatocyte growth factor is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. Its ability to stimulate mitogenesis, cell motility, and matrix invasion gives it a central role in angiogenesis, tumorogenesis, and tissue regeneration. It is secreted as a single inactive polypeptide and is cleaved by serine proteases into a 69-kDa alpha-chain and 34-kDa beta-chain. A disulfide bond between the alpha and beta chains produces the active, heterodimeric molecule. The protein belongs to the plasminogen subfamily of S1 peptidases but has no detectable protease activity. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 7 7 q21.1 81169380 81237388 - 81331444 81399452 - 1580863;704404;1642702;1642762;1642064;1642706;1642704;2313565;2313566;2313567;2313568;2313569;2313570;2299174;2313573;2317904;2317903;2317899;2317909;2317925;2317895;6480464;6484113;6907045;7240710 15713721;14685170;15127882;16723436;12706940;18335393;16759302;16340242;16297324;16186340;15734864;18175071;18697873;11893931;12819026;15118756;16974053;10827151;20017454 1321034;14704632;14699503;14697967;14694016;14688531;14672920;14647442;14626426;14555767;14524531;14519655;14500721;12932865;12918110;12883672;12879228;12875981;12865405;12853948;12847110;12837293;12837287;12821940;12817761;12812389;12792760;12757411;12732844;12713878;12707786;12695295;12694198;12690205;12682635;12645668;12619035;12524084;12493396;12482615;12477932;12456016;12419930;12413766;12393863;12379223;12374695;12372819;12368906;12244174;12233882;12209727;12168776;12163032;12151314;12151078;12124772;12051906;11999653;11994287;11943656;11929792;11928807;11909963;11867177;11839685;11836782;11830493;11821397;11799124;11781826;11597998;11342433;10962009;10871856;10848592;10725250;10421795;9886295;9817840;9493272;9352114;9314600;8994391;8898205;8889548;8662798;8631970;8603858;8288571;8175137;8157651;8041760;7822318;7608139;7593211;7489981;7487981;3276728;2528952;2524251;2145836;1838014;1837534;1837206;1835383;1832556;1831432;1831266;1826837;1826653;1824873;1720571;1655405;1535333;1531136;1482348;1386343;1334458;1328193;2531289;15167892;18585357;14679171;14517989;19576567;19521120;19478261;19471602;19470725;19426716;19416273;19389925;19386985;19321255;19318497;19281086;19249525;19230022;19223316;19223201;19188684;19184985;19154948;19127344;19118941;19114710;19060265;19050584;19047046;19023030;19021204;19021063;19020737;19020551;19010854;18992144;18973760;18956268;18844210;18813782;18812567;18789327;18787186;18774952;18691255;18628208;18569024;18564920;18539758;18501120;18495663;18491380;18424072;18422749;18326526;18319552;18291418;18274928;18264938;18251163;18234969;18164961;18096875;18091351;18065658;18063891;18059365;18053801;18021988;16709855;16709175;16684952;16677802;16651617;16648972;16627020;16621453;16505200;16498238;16469801;16403414;16338307;16303761;16279944;16278380;16246197;16216128;16144920;16136515;16102116;16083876;16052207;16039997;16019534;16014626;16006475;16000876;15913806;15880501;15875782;15824471;15792801;15781227;15777839;15770726;15760460;15717924;15678502;15659325;15637066;15613483;15608673;15602080;15590419;15550554;15537870;15528455;15525877;15505094;15504940;15504551;15502712;15492846;15489334;15474099;15359093;15334679;15292253;15287857;15250830;15241561;15240510;15239259;15229174;15226629;15203188;15192042;15191880;15172968;15160305;15156160;15153617;15120936;15112327;15087580;15064106;15059978;15019814;14989981;14983012;14764801;18004740;18003605;17992475;17981731;17973092;17971014;17967179;17942284;17921114;17911637;17907155;17901400;17876341;17872495;17765959;17702746;17626784;17625596;17625116;17599773;17597814;17593080;17518673;17464544;17452892;17435158;17384084;17372204;17322284;17307814;17262819;17244893;17215249;17203235;17178341;17154373;17143015;17099727;17062664;16951184;16902162;16885407;16861928;16859527;16849525;16807517;16790083;16740060;16728464;20301607;21703533;21796631;21872356;21920521;21922134;21932108;22127603;22252121;22276607;22354962;22392903;22495710;22136730;22178588;22203985;22242160;21187969;22509107;1280830;16554660;8380735;15695515;15161915;22629140;22843899;21396819;21183732;19959938;20200161;19913121;20178463;20628086;21427651;14512973;17520376;18024311;18504429;18979225;19281453;19423096;19423540;19468262;19508152;19515220;19525225;19526316;19533745;19542190;19553700;19615360;19625133;19628037;19661216;19661350;19692652;19713535;19720831;19749787;19797611;19817696;19858036;19888551;19956874;20005573;20007454;20015050;20019837;20061986;20066125;20122738;20129249;20203323;20406964;20424473;20438785;20200025;20852387;20930612;20534479;20819464;19939200;19961885;20699604;20568106;20584902;20728428;19563076;20150826;20372801;20580899;20021260;20483455;20819770;20937841;20519660;20977675;20558345;20661229;20670691;17981115;20131016;20177149;20185166;20533298;21249190;21362320;21459729;21423210;21082280;21342325;20980460;21042281;21131364;21234230;21226996;21131996;21168200;22730814;22741575;21360495;22413835;22850551;23081981;22172411;22802291;19452723;21520010;21572126;21395178;21486864;21376809;22749438;21447729;21561997;21658389;22722904;21411099;21723061;21782801;23053181;21777671;21897747;21750433;21784852;21899661;22003120;23047829;22286923;21440951;22436613;22953646;22318499;22318606;19433454;22447520;22763439;22989111;23049908;22689693;22675553;22744972;23134111;23094709;22435662;23288153;23212923;22854048;21779929;22892737;22441736;22848710;22876972;22915589;22936342;23431957;22641068;22771249;23273597;23402812;22426494;23154434;21643812;22040972 3082 C9JDP4;C9JJ35;C9JS80;C9WSJ3;Q9BYM0 AACC02000015;AB208900;ABBA01058066;ABBA01058067;AC004960;AK291674;AK313694;AMYH01017648;AY246560;BC022308;BC063485;BC105797;BC130284;BC130286;BM153501;BM971901;BU533235;CH236949;CH471091;D90334;FJ830861;FJ830862;L02931;M29145;M55379;M60718;M73239;M73240;M75971;M75983;M75984;M77227;NG_016274;NM_000601;NM_001010931;NM_001010932;NM_001010933;NM_001010934;U46010;X16323;X57574 AAA35980;AAA52648;AAA52649;AAA52650;AAA64239;AAA64297;AAC50539;AAC71655;AAG53459;AAG53460;AAH22308;AAH63485;AAI05798;AAI30285;AAI30287;AAO61091;ACX45437;ACX45438;ADR83265;BAA14348;BAD92137;BAF84363;CAA34387;CAA40802;EAL24189;EAW76992;EAW76993;NP_000592;NP_001010931;NP_001010932;NP_001010933;NP_001010934;P14210 Hs.396530 1335823;1342229;1662986;1674814;1710968;1747753;2116065;2185093;5123038;7186837;7187414 D7S2748;D7S3046;D7S644;D7S804;G66820;RH47062;SHGC-31157;SHGC-84463;STS-AA015815 DFNB39;F-TCF;HGFB;HPTA;SF OTTHUMP00000161349;OTTHUMP00000206710;OTTHUMP00000206711;OTTHUMP00000206712;OTTHUMP00000206713;OTTHUMP00000206730;fibroblast-derived tumor cytotoxic factor;hepatocyte growth factor;hepatopoeitin-A;hepatopoietin-A;lung fibroblast-derived mitogen APPROVED protein-coding ENSG00000019991 4893 00799 108010;125853;135300;142409;148000;266600;604302;608265;610733 REVIEWED 1344894 HHATL hedgehog acyltransferase-like 3 3 3 p22.1 42674550 42684714 - 42709159 42718017 - 42734155 42744319 - 6480464 15489334;12477932;11374908;10574461;20646595;21078624 57467 C9JEF1;C9JHL0;C9JJ25;C9JKQ1;C9JL39;H7C1Q3;Q5QTR4;Q9HCP6 AB032999;AB042554;ABBA01024763;AC006059;AF109356;AMYH01013115;BC022529;BI544867;BI596471;CH471055;NM_020707;NR_027753 AAH22529;AAQ13504;BAA86487;BAB17758;EAW64666;EAW64667;EAW64668;NP_065758;Q9HCP6 Hs.476041 1849774;5122605 D3S2783E;SHGC-31064 C3orf3;GUP1;KIAA1173;MBOAT3;MSTP002;OACT3 GUP1 glycerol uptake/transporter homolog;GUP1, glycerol uptake/transporter homolog;OTTHUMP00000164037;OTTHUMP00000209595;chromosome 3 open reading frame 3;glycerol uptake/transporter homolog;hedgehog acyltransferase-like protein;membrane bound O-acyltransferase domain containing 3;protein-cysteine N-palmitoyltransferase HHAT-like protein protein-coding ENSG00000010282 13242 12166 608116 VALIDATED 1606456 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009] 8 8 p11.1 43114749 43177127 + 42995592 43057970 + 6480464;7240710 18518886;17397050;17033958;16960811;16421571;20650889;16303743;15591281;14702039;12477932;16344560;20583299;19479962;19823584;21957468 138050 E5RGH7;E5RH11;E5RJC4;E5RJN0;E7ET79;H0YAZ0;Q68CP4;Q8IVU6 ABBA01021185;ABBA01021186;ABBA01021187;ABBA01021188;ABBA01021189;ABBA01021190;ABBA01021191;ABBA01021192;ABBA01021193;AC113191;AK025895;AK057293;AK074839;AK304441;AK308922;AL355714;AL832870;AMYH01018692;AMYH01018693;AMYH01018694;BC012452;BC042037;BC050672;BC056149;BE327420;CR457352;CR749838;DA395558;DB128369;NG_009552;NM_152419 AAH12452;AAH42037;BAB15273;BAB71412;BAG65262;CAG33633;CAH18694;NP_689632;Q68CP4 Hs.600384 1653911;1668808;1676450;1676992;1677068;1677178;1686622;1686702;1688726;1734082;1739973;1848288;1851937;2153290;5019707;5093874 D8S1581;D8S1681;D8S94;G32550;G32975;RH16195;RH26317;RH36860;RH67241;RH67667;RH68155;RH69425;SGC33128;SHGC-34736;SHGC-57613;WI-17499 DKFZp686G24175;FLJ22242;FLJ32731;HGNAT;MPS3C;TMEM76 OTTHUMP00000225906;heparan-alpha-glucosaminide N-acetyltransferase;transmembrane protein 76 APPROVED protein-coding ENSG00000165102 26527 252930;610453 REVIEWED 1351064 HHAT hedgehog acyltransferase 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002] 1 1 1 q32 183724968 184075988 + 208568920 208916261 + 210501596 210849638 + 5510013;6480464;6484113 20716670 16710414;16344560;15489334;14702039;12477932;11486055;11160356;20379614;23112049;21906983;23142968;22733134;22626636 55733 B1AK61;B7Z2U8;B7Z5N1;F5H2Y1;Q4G0K3 ABBA01048197;ABBA01048198;ABBA01048199;ABBA01048200;ABBA01048201;ABBA01048202;AC096636;AK001586;AK092186;AK295130;AK297193;AK298991;AK299200;AK302955;AK316190;AK316524;AL034351;AL035414;AL049848;AL590653;AL691441;AMYH01001697;AMYH01001698;BC039071;BC051191;BC117130;BX255872;CH471100;CR936628;DA336461;DB077466;DB080645;NM_001122834;NM_001170564;NM_001170580;NM_001170587;NM_001170588;NM_018194 AAH39071;AAI17131;ADR83019;BAA91772;BAG52495;BAH11984;BAH12521;BAH12917;BAH12967;BAH13854;BAH14561;BAH14895;CAB42852;CAI56771;EAW93426;EAW93427;EAW93428;EAW93429;EAW93430;NP_001116306;NP_001164035;NP_001164051;NP_001164058;NP_001164059;NP_060664;Q5VTY9 Hs.58650 1686937;1704784;1705442;1708096;1723381;1743339;1751047;1765655;1766547;1767288;1853857;2107319;2156167;5095953 AL009390;G16266;GDB:315025;MART2__7375;RH118432;RH94351;SHGC-104993;SHGC-149101;SHGC-149865;SHGC-32405;SHGC-76296;SHGC-79859;SHGC-81446;SHGC-83802 FLJ10724;FLJ34867;GUP2;MART-2;MART2;SIT;SKI1;Skn;rasp;ski OTTHUMP00000034608;OTTHUMP00000034611;melanoma antigen recognized by T cells 2;melanoma antigen recognized by T-cells 2;protein-cysteine N-palmitoyltransferase HHAT;skinny hedgehog protein 1 APPROVED protein-coding ENSG00000054392 18270 12041 605743 VALIDATED 733649 HGS hepatocyte growth factor-regulated tyrosine kinase substrate The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010] 17 17 q25 77261425 77279553 + 79650962 79669151 + 1580863;4892619;6480464;6484113;6907045 19535733 11984006;10861283;12444102;9407053;15611048;12218189;18767904;18675823;18445679;18362181;17804729;17675298;17624298;17545595;17445799;17320394;17182674;17138565;17014699;16832584;16713569;16707569;16516194;16462748;16448788;16429130;16352611;16212419;16189514;15944737;15828871;15772161;15592455;15509564;15489334;15240819;15212941;15113837;12953068;12900395;12847087;12802020;12554698;12551915;12477932;12444101;12230472;12151521;12021262;11916981;11687594;11532964;11397816;11285248;11110793;11094085;10970851;10825299;10809762;10514494;9630564;8380735;18508924;19019082;13679051;15809337;19362549;19158374;14519844;16716190;16735510;16771824;20936779;12207904;15218037;17101784;18029348;12900394;14702039;15071556;19624486;19874558;20159979;20224683;20420830;20505072;17853893;19542561;21070952;20463881;14602072;20812348;21304933;11031247;16084064;20150893;21706016;21988832;22479182;22832105;23000965;23153581;23222715;23236378;23314748;23477725;23602387;19478092;22863883;17229889;19808888;20720151;21520210;21635887;21748597;19953087;20675381;20972266;21139048;21362618;21890473;21906983;21963094;21987572;22138215;11988743;16159959;16467847;16497222;17686993;21832049;22800866;22939629;18187620;20504764;22505724 9146 I3L165;I3L1E3;I3L1F1;I3L1P5;I3L2H4;I3L326;I3L346;O14964 ABBA01032159;ABBA01032160;AC139530;AF260566;AI365104;AK021483;AK097197;AK294190;AK303800;AMYH01008718;BC003565;BT009754;CH471099;D84064;DR001213;NM_004712;U43895 AAC51929;AAF82361;AAH03565;AAP88756;ABM83477;ABM86688;BAA23366;BAG57506;BAG64754;EAW89675;EAW89676;EAW89677;EAW89678;EAW89679;NP_004703;O14964 Hs.661056 5020948;5022651 D11S2921;G35510 FLJ11421;FLJ39878;HRS;Vps27;ZFYVE8 hepatocyte growth factor-regulated tyrosine kinase substrate;hgf-regulated tyrosine kinase substrate;human growth factor-regulated tyrosine kinase substrate;protein pp110 APPROVED protein-coding ENSG00000185359 4897 05085 604375 REVIEWED 6769632 HHIP-AS1 HHIP antisense RNA 1 4 q31.21 145564068 145567171 - 12477932;19300500;20010834;20010835;20881960 646576 ABBA01070017;AC098588;AMYH01014590;BC039450;BX452340;NG_011496;NR_037595 Hs.632595 1342086;2118952 D4S2998;SHGC-67826 APPROVED miscrna ENSG00000248890 44182 VALIDATED 1353531 HHLA1 HERV-H LTR-associating 1 8 8 8 q24 129249437 129293200 - 133139449 133197055 - 133073733 133117512 - 14702039;10329003;8382789;20585627 10086 C9JL84;C9JY47 ABBA01014213;AC100868;AC131042;AK022619;AMYH01019035;AMYH01019036;CH471060;NM_001145095 C9JL84;EAW92139;EAW92140;NP_001138567 Hs.285026 1335263;1717457;7184950 D8S557;RH122232 PLA2L HERV-H LTR-associating protein 1;OTTHUMP00000179159 protein-coding ENSG00000132297 4904 06823 604109 VALIDATED 1350411 HHEX hematopoietically expressed homeobox This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008] 10 10 q23.33 94439661 94445388 + 94449681 94455408 + 1580863;6480464;6907045 22487833;22540015;12554669;10871399;15016828;12655000;12826010;19380854;19368707;19336475;19324937;19279076;19258437;19258404;19247372;19228808;19225753;19172244;19139842;19117022;19082521;19072826;19033397;19020324;19020323;19008344;19002430;18991055;18984664;18755198;18719881;18713067;18633108;18618095;18598350;18597214;18591388;18544707;18516622;18477659;18469204;18461161;18437351;18426861;18388181;18372903;18231124;18210030;18162508;18039816;17971426;17928989;17827400;17804762;17786204;17632701;17618412;17463249;17463248;17463246;17293876;16854221;16582099;16540119;16189514;15489334;15242862;15187083;15062550;15024728;14555989;14517947;12588764;12477932;11889211;22693455;22506066;11701950;11551904;10597310;8103988;8096636;7911091;7858254;1360645;20571754;20580033;20597906;20616309;20647405;20724036;20802253;20550665;21533175;20581827;20862305;19053027;19324893;19401414;19502414;19592620;19602701;19622614;19720844;19741166;19741467;19794065;19808892;19862325;19892838;19933996;19956635;20028982;20041287;20043145;20075150;20080751;20161779;20176809;20203524;20215779;20384434;20424228;20460429;20490451;20503258;20509872;20703447;20712903;20816152;20879858;20889853;20927120;20929593;21056935;21059810;22443257;22923468;21368910;21510814;21890473;21656028;21833088;21988832;23166797;23349771;23036584;22874537 3087 F8VU08;Q03014 AA810064;ABBA01021892;AF182950;AK314891;AL590080;AMYH01002953;BC014336;BC015110;BC050638;BI823658;BM543214;CH471066;DB504532;L16499;NM_002729;X67235;Z21533 AAA02988;AAH14336;AAH15110;AAH50638;AAK12833;ABZ92007;BAG37405;CAA47661;CAA79730;EAW50087;EAW50088;NP_002720;Q03014 Hs.118651 1797684;2130163;2146669 HHEX_2282;RH17624;SHGC-35774 HEX;HMPH;HOX11L-PEN;PRH;PRHX OTTHUMP00000020100;OTTHUMP00000242664;OTTHUMP00000242665;hematopoietically-expressed homeobox protein HHEX;homeobox protein HEX;homeobox protein PRH;homeobox, hematopoietically expressed;proline-rich homeodomain-containing transcription factor APPROVED protein-coding 4901 06829 604420 REVIEWED 1349549 HHIPL1 HHIP-like 1 14 14 14 q32 80166356 80197860 + 99181233 99205364 + 100111480 100143011 + 1580863;6480464 14702039;12975309;12477932;11347906;21697133;21378990 84439 F1T0G3;Q96JK4 AB058725;AB593096;AB593097;ABBA01048551;ABBA01048552;ABBA01048553;AK095603;AL160313;AMYH01005995;AMYH01005996;AMYH01005997;AMYH01005998;AY358173;BC132877;BC136577;CH471061;NM_001127258;NM_032425 AAI32878;AAI36578;AAQ88540;ADR83333;BAB47451;BAJ84036;BAJ84037;EAW81676;EAW81677;NP_001120730;NP_115801;Q96JK4 Hs.288522 KIAA1822;UNQ9245 ARAR9245;HHIP-like protein 1;OTTHUMP00000246262;OTTHUMP00000246263 protein-coding ENSG00000182218 19710 13895 VALIDATED 1347103 HIATL2 hippocampus abundant transcript-like 2 9 9 q22.33 98748148 98815683 - 99708327 99775862 - 737633 12477932 15489334;15164053;21906983 84278 Q5VZR4;R4GN14 ABBA01042940;AK127385;AL158827;AL445670;AMYH01021549;AMYH01021550;BC005058;NR_002894 Q5VZR4 Hs.610084 1663600;2175490;2175492;5015621;5020740;5022200;5022322;5024756;5037552 D11S2560;D11S3732;D8S2279;L17809;L18426;RH48513;RH48576;RH80030;STS-AA034059 FLJ45467;MGC12945 pseudo ENSG00000196312 23672 17102 PROVISIONAL 1354359 HHIP hedgehog interacting protein This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011] 4 4 q28-q32 145786623 145879331 + 145567148 145659881 + 5510025;6480464;6484113;6907045 20844013 22301921;19561611;19561609;19300482;19266077;18559595;18391952;18391951;18391950;15970691;15754313;15489334;15294024;14702039;12975309;12477932;11731473;11435703;10050855;20546612;20656943;20846217;19300500;19343178;19893584;19915594;19996190;20010834;20010835;20173748;20379614;20397748;19252479;21119205;21397937;22406999;22897141;23752268;20853133;21210262;22080838;20800318;22140090;20881960;23284291;22457212 64399 Q96QV1 ABBA01070018;ABBA01070019;AC098588;AF326471;AK024645;AK074711;AK098525;AK291849;AMYH01014590;AMYH01014591;AY009317;AY009951;AY358747;BC009298;BC015636;BC025311;BI602235;CH471056;CS319970;HC087070;NG_011496;NM_022475 AAG34731;AAG35411;AAH09298;AAH25311;AAK18182;AAQ89107;ABM84544;BAB14945;BAC11154;BAF84538;CAK96038;CBI67672;EAX05054;NP_071920;Q96QV1 Hs.507991 1342086;1653727;1707258;1752823;1795972;2117870;2166509 D4S1278;D4S2998;HHIP_978;SHGC-106691;SHGC-59308;SHGC-67731;SHGC-79226 FLJ20992;FLJ90230;HIP OTTHUMP00000220211;hedgehog-interacting protein APPROVED protein-coding 14866 06937 606178 REVIEWED 1605638 HHIPL2 HHIP-like 2 1 1 1 q41 195914723 195940536 - 220762225 220788067 - 222695602 222721444 - 6480464 16344560;14702039;12975309;12477932;11181995;20379614;22237814 79802 Q6UWX4 ABBA01048047;ABBA01048048;AK023902;AL592148;AMYH01001746;AY358602;BC007638;BC015167;BC015201;BC016552;CH471100;DA868891;NM_024746 AAH07638;AAH15167;AAH15201;AAH16552;AAQ88965;BAB14717;EAW93274;NP_079022;Q6UWX4 Hs.665660 1339991 D1S2821 FLJ13840;KIAA1822L;RP11-378J18.1 HHIP-like protein 2;KIAA0319-like;KIAA1822-like;OTTHUMP00000035656;hedgehog interacting protein-like 2 protein-coding ENSG00000143512 25842 08587 VALIDATED 1351999 HHLA3 HERV-H LTR-associating 3 1 1 1 p31.1 69110423 69123637 + 70593081 70606294 + 70820493 70833706 + 6480464 16189514;16710414;15489334;12477932;10444326;17207965 11147 E9PSC4;J3KQD7;Q9XRX5 ABBA01074482;ABBA01074483;AF126163;AF126164;AL158839;AMYH01000699;BC010922;BG773961;BI868263;BQ009559;CH471059;NM_001031693;NM_001036645;NM_001036646;NR_027404 AAD33288;AAD33289;AAH10922;ADQ33158;EAX06452;EAX06453;EAX06454;EAX06455;NP_001026863;NP_001031722;NP_001031723;Q9XRX5 Hs.142245 HERV-H LTR-associating protein 3;OTTHUMP00000010941;OTTHUMP00000010942;OTTHUMP00000010943;OTTHUMP00000232419;human endogenous retrovirus-H long terminal repeat-associating 3;human endogenous retrovirus-H long terminal repeat-associating protein 3 protein-coding ENSG00000197568 4906 05083 604372 VALIDATED 1350112 HHLA2 HERV-H LTR-associating 2 3 3 3 q13.13 106417960 106493752 + 109504022 109579816 + 108021332 108097126 + 1580863;6480464 15489334;14702039;12477932;10444326;22488247 11148 B4DKN2;C9J7D0;C9J8J7;C9JD07;C9JY13;C9JY43;H7C523;Q9UM44 ABBA01061705;ABBA01061706;AC078855;AC135308;AF126162;AK000692;AK027132;AK296644;AK315109;AMYH01013382;BC035971;CH471052;NM_007072 AAD48396;AAH35971;ABM83536;ABM86776;BAA91323;BAG59244;EAW79727;EAW79728;NP_009003;Q9UM44 Hs.252351 1751357 SHGC-105151 B7H7 HERV-H LTR-associating protein 2;OTTHUMP00000214398;OTTHUMP00000214399;OTTHUMP00000214400;OTTHUMP00000214401;OTTHUMP00000214402;OTTHUMP00000214403;human endogenous retrovirus-H long terminal repeat-associating protein 2 protein-coding ENSG00000114455 4905 05082 604371 PROVISIONAL 1313218 HIAT1 hippocampus abundant transcript 1 1 1 1 p21.2 98759548 98805814 + 100276377 100321521 + 100503789 100548933 + 1580863;6480464 16303743;15489334;14702039;12477932;9299464;19322201 64645 H7C3C9;Q96MC6 ABBA01045445;AC093019;AF427492;AK057172;AK075208;AK096669;AL137576;AMYH01000825;BC033696;BC064409;BC107768;CH471097;NM_033055 AAH64409;AAI07769;AAI56408;AAI72469;AAL25115;BAB71375;BAC04836;BAC11473;CAB70819;EAW72976;NP_149044;Q96MC6 Hs.124156 1650427;1651241;1699576;1712180;1780062;1855404;2133089 AL009708;G54141;RH103389;SHGC-154311;SHGC-75207;SHGC-75216;SHGC-75217 DKFZp564L0864 OTTHUMP00000012456;hippocampus abundant gene transcript 1;hippocampus abundant transcript 1;hippocampus abundant transcript 1 protein;putative tetracycline transporter-like protein;tetracycline transporter-like protein protein-coding ENSG00000156875 23363 11022 VALIDATED 1606770 HIATL1 hippocampus abundant transcript-like 1 9 9 9 q22.32 67632673 67664431 + 96176654 96263023 + 97136833 97223202 + 6480464 15231747;15489334;15164053;14702039;12477932;8125298;21906983;19322201 84641 B4DUE6;Q5SR56 ABBA01043641;ABBA01043642;AF255650;AK027659;AK222836;AK300615;AL358232;AL691447;AL832415;AMYH01021528;AMYH01021529;AMYH01021530;BC021093;BC106062;BU507687;BX359483;BX648846;CH471174;NM_032558 AAG44638;AAH21093;AAI06063;BAB55274;BAD96556;BAG62308;EAW92610;EAW92611;EAW92612;EAW92613;NP_115947;Q5SR56 Hs.743974 1671530;1714327;1851424;1855450;1858104;2175492 RH119943;RH48513;RH64909;SHGC-35906;STS-Z40916;WI-19346 FLJ14753;MGC117350 OTTHUMP00000021693;hippocampus abundant transcript-like 1;hippocampus abundant transcript-like protein 1 protein-coding ENSG00000148110 23376 07869 VALIDATED 1316774 HIC1 hypermethylated in cancer 1 This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010] 17 17 p13.3 1905143 1909731 + 1958393 1962981 + 1580863;6480464 7585125;19486893;17982487;17283066;17213307;17079468;16762039;16724116;16386221;16301995;15488761;15231840;15007385;14688019;14656076;14506157;12621583;12477932;12052894;11554746;11073960;10611298;9838134;9572497;20634891;20547755;23178572;23417673;16269335;19491197;19525223;19649206;20682398;21104471;19850743;21274674;21533545;22136354;22510409;22544915;22184117;22194601;22315224;22327210;18029348;22632162 3090 A0PJI1;I3L388;K7ENQ1;Q14526 ABBA01054689;ABBA01054690;ABBA01054691;AC090617;AJ007314;AJ404688;AJ550616;AJ583693;AJ583694;AMYH01008008;BC030208;BQ004706;CH471108;DQ187313;L41919;NG_027689;NM_001098202;NM_006497 AAD09201;AAH30208;AAI56195;AAI57028;ABA60890;CAA07453;CAD79467;EAW90562;EAW90563;EAW90564;NP_001091672;NP_006488;Q14526 Hs.695682;Hs.72956 1746659;1746685;1746687;1746689;1746691;1746693;1746695;1746697;1746699;1746701;1746703;1746705;1746707;1746709;1856304;2172511;2190835 D17S30_-_XTB4;G54752;G54863;G54864;G54865;G54866;G54867;G54868;G54869;G54870;G54871;G54872;G54874;G54875;HIC1;RH78924;WI-11584 ZBTB29;ZNF901;hic-1 hypermethylated in cancer 1 protein;zinc finger and BTB domain-containing protein 29 APPROVED protein-coding ENSG00000177374 4909 04826 603825 REVIEWED 5508556 HIF1A-AS1 HIF1A antisense RNA 1 q23.2 15146197;21897117 100750246 AL137129;CN270307 Hs.713476 5'aHIF-1A APPROVED miscrna 43014 614528 5508555 HIF1A-AS2 HIF1A antisense RNA 2 (non-protein coding) q23.2 16344560;21897117 100750247 DA652223 1658573;1730293;2128788;7184704 D14S87E;RH70592;SGC35483 3'aHIF-1A miscrna 43015 614529 1318134 HIBCH 3-hydroxyisobutyryl-CoA hydrolase This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 2 2 2 q32.2 184664402 184779775 - 190777605 190892804 - 191069360 191184771 - 1580863;6480464;6907045;7240710 8824301;17474147;17160907;12477932;11580916;8125298;15342556;16344560;20877624;22939629;20000738;21139048;21890473;22505724 26275 B8ZZZ0;B9A058;F8W8A6;H7BYI7;H7C126;H7C1A5;H7C400;Q6NVY1 ABBA01062383;AC010679;AC092178;AI767349;AK222979;AK223023;AK308042;AK313651;AMYH01011345;BC005190;BC067822;BI764401;BP193393;CA448468;CA453768;CH471058;DB034438;NG_017062;NM_014362;NM_198047;U66669 AAC52114;AAH05190;AAH67822;AAX93234;AAY24178;BAD96699;BAD96743;EAX10873;EAX10874;EAX10875;EAX10876;EAX10877;NP_055177;NP_932164;Q6NVY1 Hs.656685 1682279;1684604;1727177;2119891;2190585 EST8H9;G62842;RH16399;RH68886;RH93943 HIBYL-COA-H;HIBYLCOAH 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial;3-hydroxyisobutyryl-Coenzyme A hydrolase;HIB-CoA hydrolase;HIBYL-CoA-H;OTTHUMP00000163512;OTTHUMP00000205554 APPROVED protein-coding ENSG00000198130 4908 11023 250620;610690 REVIEWED 6480907 HIF1AP1 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) pseudogene 1 14 75583129 75583311 - 100874523 ABBA01030707;AL049780;AMYH01005857;NG_032553 pseudo 43016 INFERRED 732658 HIBADH 3-hydroxyisobutyrate dehydrogenase This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011] 7 7 7 p15.2 27553696 27691196 - 27531586 27669127 - 27565059 27702620 - 1580863;6480464;6907045 15489334;12853948;12690205;12477932;9847074;8313870;3335502;18222470;19834535;15342556;15967462;20877624;16466957;22990118;22318606;19322201;21139048;21890473 11112 F8WET2;H7BZL2;P31937 AACC02000007;AB050000;ABBA01056773;ABBA01056774;AC005091;AC007130;AF529362;AK025558;AK316605;AMYH01017133;BC013855;BC020167;BC032324;BP343005;BQ051350;CA449571;CH236948;CH471073;CS300494;NM_152740 AAH32324;AAQ09596;ABM85603;BAF42045;BAG38192;CAK32158;EAL24214;EAW93897;EAW93898;EAW93899;EAW93900;NP_689953;P31937 Hs.406758 1339101;1662205;1699420;1747865;1786262;1786268;1786416;1786450;2144452;2165641;2182770;5017552 D7S2363;D7S2556;G66854;GDB:1317648;GDB:1318681;HIBADH;RH103301;RH16419;SHGC-144493;SHGC-144887;SHGC-172010;SHGC-172278 MGC40361;NS5ATP1 3'-hydroxyisobutyrate dehydrogenase;3-hydroxyisobutyrate dehydrogenase, mitochondrial;OTTHUMP00000122531 APPROVED protein-coding ENSG00000106049 4907 12238 608475 REVIEWED 2303458 HIGD1AP1 HIG1 hypoxia inducible domain family, member 1A pseudogene 1 12 12 12 q13.13 53183631 53184975 + 51822023 51823371 + 53535744 53537088 + 15869325 100129086 ABBA01008315;AC073573;AMYH01004477;DQ052161;NG_009611 HIG1;HIGD1D;HIGD1DP APPROVED pseudo 22804 INFERRED 5491157 HIGD1AP10 HIG1 hypoxia inducible domain family, member 1A pseudogene 10 11 q13.1 64912436 64913466 - 100287960 ABBA01024134;AMYH01003716;AP003068;NG_027526 1771156;2135009 G33104;L18436 pseudo 43005 INFERRED 6480918 HIGD1AP11 HIG1 hypoxia inducible domain family, member 1A pseudogene 11 1 53538785 53539083 - 100874453 ABBA01074746;AL445183;AMYH01000625;NG_032547 pseudo 43006 INFERRED 5491155 HIGD1AP12 HIG1 hypoxia inducible domain family, member 1A pseudogene 12 1 1 p13.2 111724436 111725703 + 111922892 111923191 + 100130383 ABBA01068397;AL356387;AMYH01000946;NG_032000 pseudo 43007 INFERRED 6480920 HIGD1AP13 HIG1 hypoxia inducible domain family, member 1A pseudogene 13 4 79570138 79570405 - 100874454 ABBA01063383;AC112253;AMYH01014330;NG_032548 pseudo 43008 INFERRED 6480921 HIGD1AP14 HIG1 hypoxia inducible domain family, member 1A pseudogene 14 4 110594978 110595277 + 100874455 ABBA01063783;AC004067;AMYH01014458;NG_032549 pseudo 43009 INFERRED 6484099 HIGD1AP15 HIG1 hypoxia inducible domain family, member 1A pseudogene 15 20 p12.2 10315002 10315866 + 100289605 ABBA01053932;AL023913;AMYH01011710;NG_032775 1753363 SHGC-107163 pseudo 43010 INFERRED 6480924 HIGD1AP16 HIG1 hypoxia inducible domain family, member 1A pseudogene 16 20 34466356 34466652 + 100874476 ABBA01019138;AL078461;AMYH01011877;NG_032550 pseudo 43011 INFERRED 6480929 HIGD1AP17 HIG1 hypoxia inducible domain family, member 1A pseudogene 17 14 31433532 31433827 + 100874477 ABBA01061405;AL049830;AMYH01005638;NG_032551 pseudo 43012 INFERRED 6480922 HIGD1AP18 HIG1 hypoxia inducible domain family, member 1A pseudogene 18 8 77925990 77926288 - 100874456 ABBA01041999;AC090810;AMYH01018807;NG_032552 pseudo 43013 INFERRED 6480915 HIGD1AP2 HIG1 hypoxia inducible domain family, member 1A pseudogene 2 13 81847005 81847302 + 100874450 ABBA01021716;AL353633;AMYH01005238;NG_032523 pseudo 42642 INFERRED 6480386 HIGD1AP3 HIG1 hypoxia inducible domain family, member 1A pseudogene 3 5 174059932 174060209 + 100859920 ABBA01044009;AC117531;AMYH01015832;NG_031935 pseudo 42998 INFERRED 6480916 HIGD1AP4 HIG1 hypoxia inducible domain family, member 1A pseudogene 4 2 224262983 224263262 - 100874435 ABBA01023797;AC079120;AMYH01011523;NG_032542 pseudo 43000 INFERRED 5491156 HIGD1AP5 HIG1 hypoxia inducible domain family, member 1A pseudogene 5 11 p15.1 18128159 18128390 + 100289300 ABBA01061060;AC090099;AMYH01003419;NG_031919 pseudo 42999 INFERRED 6480911 HIGD1AP6 HIG1 hypoxia inducible domain family, member 1A pseudogene 6 8 76214531 76214809 + 100874436 ABBA01041993;AC022274;AC105218;AMYH01018801;NG_032543 pseudo 43001 INFERRED 6480912 HIGD1AP7 HIG1 hypoxia inducible domain family, member 1A pseudogene 7 7 40155261 40155542 + 100874437 AACC02000039;ABBA01058154;AC006023;AMYH01017194;CH236951;NG_032544 pseudo 43002 INFERRED 6480917 HIGD1AP8 HIG1 hypoxia inducible domain family, member 1A pseudogene 8 12 11634297 11634594 + 100874451 ABBA01067822;AC078950;AMYH01004283;NG_032545 pseudo 43003 INFERRED 6480919 HIGD1AP9 HIG1 hypoxia inducible domain family, member 1A pseudogene 9 12 50013096 50013395 + 100874452 ABBA01031529;AC020612;AMYH01004445;NG_032546;NG_032901 pseudo 43004 INFERRED 1313307 HIC2 hypermethylated in cancer 2 22 22 22 q11.21 5515817 5524520 - 20101693 20135752 + 21771693 21805752 + 1580863;6480464 12052894;15489334;15461802;15146197;14702039;12944466;12477932;12168954;10591208;10470851;8889548;11554746;18029348;16169070;19838193;21832049;22990118 23119 Q96JB3 AB028943;ABBA01001219;AF349035;AJ313204;AK023021;AL162003;AMYH01012611;AP000556;AP000557;BC009207;BC009216;BC094787;BM675330;CH878607;CN373403;CR456377;NM_015094 AAH94787;AAK72951;BAA82972;CAB82344;CAC70715;CAG30263;CAK54513;CAK54812;EAW50621;NP_055909;Q96JB3 Hs.632767 2132960;2132962;2159643;2219134 A006G19;A009D08;G20786;HIC2__6718 HRG22;KIAA1020;ZBTB30;ZNF907 HIC1-related gene on chromosome 22 protein;OTTHUMP00000198510;OTTHUMP00000198511;hic-2;hic-3;hypermethylated in cancer 2 protein;zinc finger and BTB domain-containing protein 30 protein-coding ENSG00000169635 18595 07412 607712 VALIDATED 1602019 HIGD1C HIG1 hypoxia inducible domain family, member 1C 12 12 12 q13.12 50150064 50166514 + 49634049 49650556 + 51347782 51364289 + 6480464 16541075;15869325;17554300 613227 A8MV81 ABBA01031591;ABBA01031592;AC008121;AMYH01004459;DQ029494;DW009649;NM_001109619 A8MV81;AAI72304;NP_001103089 Hs.702849 1657718;1700758;1858364 RH104004;STS-Z41143;WI-18303 GM921;UBIE;UBIE2 HIG1 domain family member 1C;HIG1 domain family, member 1C;OTTHUMP00000246290 protein-coding 28044 VALIDATED 1322878 HID1 HID1 domain containing 17 17 17 q25.1 69540064 69562127 - 70458434 70480411 - 72946839 72968900 - 6480464 16344560;16189514;15489334;14702039;12477932;11281419;10562567;18029348;21906983;21337012 283987 E9PIM7;E9PMS4;J3KSF1;Q8IV36 ABBA01028821;AC087651;AK074401;AK075111;AK095565;AK125514;AK304081;AL137556;AMYH01008629;BC032219;BC035372;BX496609;CH471099;DA336027;NM_030630 AAH32219;AAH35372;ADZ16038;BAB85070;BAC11407;BAG64988;CAB70810;EAW89217;EAW89218;EAW89219;EAW89220;EAW89221;NP_085133;Q8IV36 Hs.11067 2124633 RH12017 C17orf28;DMC1;FLJ43526;HID-1 HID1 domain-containing protein;OTTHUMP00000233035;OTTHUMP00000233048;UPF0663 transmembrane protein C17orf28;down-regulated in multiple cancers 1;downregulated in multiple cancer 1;hypothetical protein LOC283987;protein HID1;protein hid-1 homolog APPROVED protein-coding ENSG00000167861 15736 05766 605752 VALIDATED 1605351 HIF3A hypoxia inducible factor 3, alpha subunit The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] 19 19 q13.32 51492145 51538530 + 46800303 46846690 + 6480464;6483352 22169972 15319539;17998805;17121608;16775626;16344560;16182248;16126907;14702039;12538644;12477932;12119283;11734856;11573933;15474027;19694616;20416395;20551700;8889548;21404626;21069422;18029348;21479871;23485455;22318606 64344 B2RBI6;E9PB04;E9PJR0;E9PLC8;E9PNQ7;F5H884;H0YDZ5;H0YE02;M0R104;Q9HAI2 AB054067;AB118749;AB295039;ABBA01040966;ABBA01040967;ABBA01040968;ABBA01040969;AC007193;AF079154;AF463492;AK021421;AK021653;AK021881;AK024095;AK027725;AK297828;AK299699;AK304747;AK314680;AL541807;AMYH01009859;AMYH01009860;AU143858;BC026308;BC080551;BE250295;BE250712;BI772109;BM971722;BQ706970;CA437428;CF593418;CH471126;DA559979;DA562618;DB176660;DC423791;DN989983;DR001068;NG_029679;NM_022462;NM_152794;NM_152795;NM_152796 AAC99397;AAD22667;AAD22668;AAH26308;AAH80551;AAL69947;BAB13819;BAB13865;BAB14824;BAB55324;BAB69689;BAD93355;BAG07185;BAG37233;BAG60164;BAG61601;BAG65505;EAW57408;EAW57409;EAW57410;EAW57411;EAW57412;EAW57413;EAW57414;NP_071907;NP_690007;NP_690008;NP_690009;Q9Y2N7 Hs.420830 1651434;1657242;1740077;2141417;2176249;5014740;5015619;5016851;5019070;5020740;5024413;5037552 D11S3114;D12S1977;D17S610;D19S666E;D4S2902;D8S2279;G44334;L17809;L17877;RH68490;RH80031;STS-AA027108 HIF-3A;HIF-3A2;HIF-3A4;IPAS;MOP7;PASD7;bHLHe17 HIF-3-alpha;HIF3-alpha;HIF3-alpha-1;OTTHUMP00000180608;OTTHUMP00000180609;OTTHUMP00000180610;OTTHUMP00000230128;OTTHUMP00000230131;OTTHUMP00000230251;OTTHUMP00000230252;PAS domain-containing protein 7;basic-helix-loop-helix-PAS protein MOP7;class E basic helix-loop-helix protein 17;hypoxia-inducible factor 3-alpha;hypoxia-inducible factor-3 alpha 4;inhibitory PAS domain protein;member of PAS protein 7 APPROVED protein-coding ENSG00000124440 15825 17104 609976 REVIEWED 1317966 HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 10 10 q24 102285631 102303671 + 102295641 102313681 + 1580863;1334466;6480464;6483358;6483352;6484113 14597660;19364912;22169972 12446723;19074848;18936059;18927305;18676680;18611856;18398039;18299578;18280659;18096060;17682059;17573339;17003112;16189514;15489334;15280364;14734545;14702039;14701857;12482756;12477932;12432100;12080085;12042299;11959990;11823643;11641274;19322201;22002313;22532441;22645313;21177872;20727020;16385451;17382325;17636018;19170196;19245366;19401150;19615732;19625176;19692168;19696166;19726677;20145132;20453000;20720525;21069436;21251231;22891326;21443853;19134330;12215170;21808058;17244529;21139048;21890473;21906983;17135241;19940151;21732131;23000965;23351038;22797925;23362303;19060904 55662 E9PL41;E9PNR8;Q9NWT6 ABBA01063224;ABBA01063225;AF395830;AK000622;AK025680;AK295353;AL133352;AL359615;AMYH01003000;AW015561;BC007719;BC015574;CH471066;NM_017902 AAH07719;AAL27308;ABM83693;ABM87012;BAA91291;BAB15213;BAG58320;CAB94885;EAW49817;EAW49818;NP_060372;Q9NWT6 Hs.500788 1665589;1673143;2191147;2217422 A007K11;HIF1AN_3604;MARC_15337-15338:1017677542:1;STS-W37897 DKFZp762F1811;FIH1;FLJ20615;FLJ22027 FIH-1;OTTHUMP00000020284;OTTHUMP00000233708;factor inhibiting HIF-1;factor inhibiting HIF1;hypoxia-inducible factor 1-alpha inhibitor;hypoxia-inducible factor asparagine hydroxylase;peptide-aspartate beta-dioxygenase protein-coding 17113 09426 606615 VALIDATED 1603920 HIGD2B HIG1 hypoxia inducible domain family, member 2B 15 15 15 q24.1 49847184 49857547 - 70755176 70765543 - 72968123 72978490 - 12477932 123346 Q4VC39 ABBA01038724;AC009712;AMYH01006770;BC040890;CH471082;NR_002780 EAW77911;Q4VC39 Hs.434111 HIGD2BP APPROVED pseudo ENSG00000175202 26984 PROVISIONAL 1603886 HIGD2A HIG1 hypoxia inducible domain family, member 2A 5 5 5 q35.2 172685350 172686317 - 175748390 175749357 + 175815784 175816751 + 6480464 21832049;15489334;12477932;20877624 192286 Q9BW72 ABBA01033501;AC138956;AMYH01015859;BC007502;CH471195;NM_138820 AAH07502;ABM82819;ABM86006;EAW85081;EAW85082;NP_620175;Q9BW72 Hs.534575 1735464;2147655 D5S1586E;G22291 MGC2198;RCF1b HIG1 domain family member 2A;HIG1 domain family member 2A, mitochondrial;HIG1 domain family, member 2A;OTTHUMP00000161239;RCF1 homolog B protein-coding ENSG00000146066 28311 14483 PROVISIONAL 1603666 HIGD1A HIG1 hypoxia inducible domain family, member 1A 3 3 3 p22.1 42764774 42783944 - 42799404 42821031 - 42824400 42846027 - 6480464 15489336;17353931;11256614;16381901;16344560;15489334;15342556;12477932;11230166;11076863;11042152;10690527;8889548;8125298;20877624;22939629;17314511;21139048;21890473;22355194;23000965;23251661 25994 C9JAW5;C9JNU6;Q9Y241 ABBA01024763;AC099329;AF077034;AF145385;AK225461;AK225571;AK311815;AL110233;AMYH01013115;BC000601;BC009583;BC009594;BC070277;BG708126;BM983292;BM983580;BP208784;BP370118;CH471055;CR457385;DA428926;NM_001099668;NM_001099669;NM_014056 AAD27767;AAD33954;AAH00601;AAH09583;AAH09594;AAH70277;BAG34758;CAB53686;CAG33666;CAL38705;EAW64673;EAW64674;EAW64675;EAW64676;EAW64677;NP_001093138;NP_001093139;NP_054775;Q9Y241 Hs.593134;Hs.728813 1698822;1854514;2147320;5118885 D11S3752;RH102975;RH45613;WI-16035 DKFZp564K247;HIG1;RCF1a 2210020B17Rik;7420700H20Rik;HIG1 domain family member 1A;HIG1 domain family member 1A, mitochondrial;HIG1 domain family, member 1A;OTTHUMP00000209615;OTTHUMP00000209624;OTTHUMP00000209650;OTTHUMP00000209651;RCF1 homolog A;hypoxia inducible gene 1;hypoxia-inducible gene 1 protein protein-coding 29527 13651 VALIDATED 2974749 HINT1P1 histidine triad nucleotide binding protein 1 pseudogene 1 7 7 7 q34 137846488 137847081 - 142719896 142720276 - 143009623 143010216 - 12119013;12690205 730647 AACC02000107;ABBA01034134;AC073342;AMYH01018007;CH236959;NG_009195;NG_009815 EAL23785 HINTP1 pseudo 18467 INFERRED 1601998 HIGD1B HIG1 hypoxia inducible domain family, member 1B This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 17 17 17 q21.31 39635780 39638345 + 40280805 40283374 + 42925279 42927844 + 6480464 15489334;12477932;16169070;10737800;21351040;22166531;22588334;22993617 51751 K7EID5;K7EKK1;Q9P298 AB038021;AB038022;ABBA01028345;AC015936;AMYH01008431;AW207459;BC020667;BE041447;BG573492;BM503772;BM876435;BQ017345;BQ292861;CH471178;CS185587;NM_001271880;NM_016438;NR_073504 AAH20667;BAA90725;BAA90726;CAJ42768;EAW51575;EAW51576;NP_001258809;NP_057522;Q9P298 Hs.287963 2183392;2185627 A007K28;RH17387 CLST11240;CLST11240-15 CLST 11240 protein;CLST 11240-15 protein;HIG1 domain family member 1B;HIG1 domain family, member 1B;protein CLST 11240 protein-coding ENSG00000131097 24318 16724 REVIEWED 730935 HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011] 14 14 q23.2 61231992 61284729 + 62162119 62214977 + 1580863;1601553;1626317;1626323;625730;1626327;1626334;1626330;1626332;1626322;1626331;1334463;1334466;1580561;1626320;1626324;2301848;2306222;2306224;2306225;2306226;2291911;2293195;2306227;2306223;5147886;5147885;6480464;5148013;6483352;6483503;6484113;6907045 17213961;16955051;15703702;12234789;12189448;17519789;11882589;17522350;15862159;17554006;15563310;14597660;15063765;16046292;15583217;18614764;19302703;19064988;19014607;18304212;17937859;17245699;16080559;19106642;18484163;19727523;21092735;22169972;20396958 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3091 A8MYV6;D0VY79;F8W9L0;Q16665 AB073325;AB500182;AB733094;ABBA01018302;AF050127;AF207601;AF207602;AF208487;AF304431;AJ227916;AK093749;AK296876;AK299551;AK304315;AK304436;AK312397;AL137129;AMYH01005776;AMYH01005777;AU123241;BC012527;BT009776;BX648795;CH471061;CN264295;CN264320;DC344032;FJ790247;NG_029606;NM_001243084;NM_001530;NM_181054;U22431;U29165;X72726 AAC50152;AAC51210;AAC68568;AAF20139;AAF20140;AAF20149;AAG43026;AAH12527;AAP88778;ACN88547;BAB70608;BAG35314;BAG59438;BAG61496;BAG65167;BAG65259;BAI49183;BAM28632;EAW80806;EAW80807;EAW80808;EAW80809;NP_001230013;NP_001521;NP_851397;Q16665 Hs.597216;Hs.719495 1658573;1704208;1730293;1742641;1793350;1793352;1793354;1797126;2118229;2128788;2183333;2189461;5015619;5015961;5024413;5037552;5491260;5491421;7184704 D11S3114;D14S87E;D15S1477;D8S2279;G35879;GDB:198178;HIF1A;L17877;MARC_11585-11586:1002657151:1;MARC_6691-6694:992007331:1;MARC_6693-6692:992007336:1;PMC212228P1;PMC212228P2;PMC212228P3;RH70592;SGC35483;SHGC-32981;SHGC-83122 HIF-1A;HIF-1alpha;HIF1;HIF1-ALPHA;MOP1;PASD8;bHLHe78 ARNT interacting protein;ARNT-interacting protein;HIF-1-alpha;OTTHUMP00000179061;OTTHUMP00000179062;OTTHUMP00000179063;OTTHUMP00000245148;PAS domain-containing protein 8;basic-helix-loop-helix-PAS protein MOP1;class E basic helix-loop-helix protein 78;hypoxia-inducible factor 1 alpha isoform I.3;hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor);hypoxia-inducible factor 1-alpha;hypoxia-inducible factor1alpha;member of PAS protein 1;member of PAS superfamily 1 APPROVED protein-coding ENSG00000100644 4910 04517 603348 REVIEWED 1604942 HILS1 histone linker H1 domain, spermatid-specific 1, pseudogene This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has been disrupted by a frameshift so it is unlikely to encode a functional protein. [provided by RefSeq, Oct 2008] 17 17 17 q21.33 44709636 44710684 - 45603786 45604485 - 48248789 48249837 - 6480464 12920187;14636221;17852044;12477932;19896661 373861 P60008 ABBA01041231;AC015909;AMYH01008471;AY286318;BC033456;BC048250;BC109047;BC109048;NG_008889;NR_024192;NR_024193 AAQ23050;P60008 Hs.25934 5493477 UniSTS:486668 APPROVED pseudo 30616 12164 608101 REVIEWED 1607036 HILPDA hypoxia inducible lipid droplet-associated 7 7 7 q32.1 122898995 122901582 + 127883120 127885708 + 128095884 128098472 + 6480464 10690527;18550099;15930302;15642117;15489334;12690205;12477932;8125298;21124928;20134266;20624928;21614900;21906983 29923 Q9Y5L2 ABBA01057671;AC010655;AF144755;AK024729;AK222583;AL691669;AMYH01017918;BC001863;BC008573;BC093742;BC112183;CD686848;CH236947;CH471070;CS047958;CX784347;JA477880;NM_001098786;NM_013332 AAD37585;AAH01863;AAH93742;AAI12184;BAD96303;CAI70370;CCD35269;EAL24309;EAW83654;EAW83655;EAW83656;NP_001092256;NP_037464;Q9Y5L2 Hs.706124 1675758;2217424;5037552;5109281;5493261 D1S1425;D8S2279;HIG2_3580;RH94190;UniSTS:485485 C7orf68;FLJ21076;HIG-2;HIG2;MGC138388 OTTHUMP00000212377;OTTHUMP00000212378;hypoxia inducible gene 2;hypoxia-inducible gene 2 protein;hypoxia-inducible lipid droplet-associated protein;hypoxia-inducible protein 2 APPROVED protein-coding ENSG00000135245 28859 17105 VALIDATED 1603667 HINFP histone H4 transcription factor This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011] 11 11 q23.3 118497498 118510975 + 118992233 119005765 + 6480464 19170105;18850719;17974976;17176114;17163457;17049487;16786000;16189514;15988025;15541338;15489334;14752047;14702039;14585971;12477932;11553631;12665568;17577209;9540062;19913121;20628086;22288532 25988 E9PJA3;E9PL67;E9PPE1;Q9BQA5 ABBA01039678;ABBA01039679;AK056362;AK092869;AK300288;AK301452;AL080201;AMYH01004080;AP002956;AP003391;BC001073;BC001945;BC012856;BC017234;BF726036;BG821695;CH471065;DC326345;NM_001243259;NM_015517;NM_198971 AAH01073;AAH01945;AAH12856;AAH17234;ABM85573;BAG51688;BAG62045;BAG62976;CAB45773;EAW67460;EAW67461;EAW67462;EAW67463;NP_001230188;NP_056332;NP_945322;Q9BQA5 Hs.504091 1697764;2109517;2131486 D11S4705;MIZF_9444;RH102405 DKFZp434F162;HiNF-P;MIZF;ZNF743 MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein;MBD2-interacting zinc finger 1;MBD2-interacting zinc finger protein;OTTHUMP00000232081;OTTHUMP00000232082;histone H4 gene-specific protein HiNF-P;histone H4 transcription factor;histone nuclear factor P;methyl-CpG-binding protein 2-interacting zinc finger protein APPROVED protein-coding 17850 07387 607099 REVIEWED 1318948 HINT2 histidine triad nucleotide binding protein 2 Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008] 9 9 9 p13.3 35746489 35748574 - 35802957 35805042 - 35812957 35815042 - 1580863;6480464 18653718;15489334;12477932;12119013;8125298;16762638;17207965;20877624;16341674;21832049;21139048 84681 Q8WYJ5;Q9BX68 ABBA01064984;AF085236;AF356515;AF356875;AF490476;AK222582;AL133410;AMYH01019347;AY033094;BC033538;BC047737;BI759951;BM764627;CH471071;NM_032593 AAH47737;AAK37562;AAK53455;AAL40394;AAM00221;AAM09526;ADQ33064;BAD96302;EAW58331;EAW58332;EAW58333;EAW58334;NP_115982;Q9BX68 Hs.70573 1850417 RH41893 HIT-17 HINT-2;HINT-3;HIT-17kDa;OTTHUMP00000021363;PKCI-1-related HIT protein;histidine triad nucleotide-binding protein 2, mitochondrial;protein kinase C inhibitor-2 APPROVED protein-coding ENSG00000137133 18344 17106 609997 VALIDATED 1347010 HINT3 histidine triad nucleotide binding protein 3 Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008] 6 6 6 q22.32 127020206 127043674 + 126319629 126341265 + 126277861 126301390 + 6480464 17870088;16344560;14702039;12477932;12119013;11805111;18029348;21832049;21139048;21890473;21906983 135114 Q9NQE9 ABBA01025943;ABBA01025944;AJ420577;AK056858;AK057688;AK309857;AL035689;AMYH01016649;AY035387;AY035388;AY486460;AY486461;BC015732;BX647228;CH471051;CX755653;DA393891;DA997963;NM_138571 AAH15732;AAK71347;AAK71348;AAR89533;AAR89534;ABM83127;ABM86322;BAG51953;EAW48128;EAW48129;NP_612638;Q9NQE9 Hs.72325 1656144 RH48474 FLJ33126;FLJ99898;HINT4;MGC22976 HINT-3;HIT-like protein;OTTHUMP00000017150;histidine triad nucleotide-binding protein 3 APPROVED protein-coding ENSG00000111911 18468 17107 609998 VALIDATED 1606034 HINT1 histidine triad nucleotide binding protein 1 The protein encoded by this gene can hydrolyze substrates such as AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif, which is part of the loop that binds to the substrate. This gene has been found to be a tumor suppressing gene. Several transcript variants, but only one of them protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] 5 5 q31.2 130522776 130528935 - 130494875 130501034 - 6480464 9770345;8812426;19240791;19112177;19089909;19081673;18799291;18593937;17978999;17939685;17126529;16835243;16344560;15489334;14702039;12665801;12477932;12119013;11805111;11771757;10409428;9323207;8889549;8643579;7644499;12775419;20468064;20514075;20499681;21553311;21468541;22961002;16014379;22939629;18029348;22104145;22647378;21988832;23000965;21139048;21890473;21906983;22329685;22869114;15146197 3094 D6RC06;D6RD60;D6RE99;D6REP8;H0YC49;P49773 AA076103;ABBA01068832;AC004650;AK026557;AK054976;AK056902;AMYH01015609;BC001287;BC007090;BC028300;BF967059;BG527380;BG708765;BG942577;CD639104;CH471062;CK002748;CN290239;CR457048;DA352878;DB125655;DB289264;NG_032998;NM_005340;NR_024610;NR_024611;NR_073488;U27143;U51004 AAA82926;AAC71077;AAH01287;AAH07090;BAB15500;CAG33329;EAW62376;NP_005331;P49773 Hs.483305 1675471;1680218;1683281;2117607;2121255 G16904;RH70661;RH91489;SHGC-14493;SHGC-8671 FLJ30414;FLJ32340;HINT;NMAN;PKCI-1;PRKCNH1 OTTHUMP00000159244;adenosine 5'-monophosphoramidase;histidine triad nucleotide-binding protein 1;protein kinase C inhibitor 1;protein kinase C-interacting protein 1 protein-coding 4912 03204 137200;601314 REVIEWED 736003 HIP1 huntingtin interacting protein 1 The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 q11.23 75001345 75206215 - 75162619 75368283 - 1580863;6480464;6907045;7240710 11604514;22558309;11577110;14732715;9140394;11788820;11889126;11007801;11532990;9147654;19626275;18790740;18155047;17452370;16979168;16847693;16169070;16027218;15581353;15533940;15383276;15122254;15059611;14702039;12853948;12477932;12163454;11517213;11063258;10222105;9616134;9417924;1189126;18029348;19838193;20179344;21109226;16341674;21529783;15342556;22360420;21697888;22318606;21139048;21890473;21900206;21906983;10428802;12781365;12839988;12975309;14570852;14998932;17257618;17440072;17875735;16320245;14502241;22820750;22913984;22835334 3092 C9JMG5;O00291 ABBA01005873;ABBA01005874;ABBA01005875;ABBA01005876;ABBA01005877;ABBA01005878;ABBA01005879;ABBA01005880;ABBA01005881;AC004491;AC018720;AC211429;AF365404;AF486833;AI978782;AK094866;AK296390;AK302382;AK304738;AMYH01017552;AMYH01017553;AMYH01017554;AY358103;BC082970;BC110545;BC139786;BE350891;BE389909;BG027957;BM550560;BM556334;BM739599;BP282107;BQ446538;BQ581346;CA427404;CH471220;NG_023251;NM_001243198;NM_005338;U79734;Y09420 AAC51257;AAI10546;AAI39787;AAL87037;AAL93198;AAQ88470;BAG59058;BAG63699;BAG65499;CAA70574;EAW71767;EAW71768;NP_001230127;NP_005329;O00291 Hs.329266;Hs.619089;Hs.674397 1337990;1338819;1644283;1669056;1685840;1705644;1769561;2133845;2142936;2143244;2172730;2173791;5015404;5015619;5015861;5016478;5017227;5037552;5094930;5125972;7185938;7186344;7186447 D10S16;D11S3114;D7S1456;D7S2159E;D7S2490;D7S3303;D7S659;D7S715;D8S2279;G38154;GDB:434012;GDB:4585029;GDB:4585037;GDB:4585453;HIP1;HSC0XA062;L17705;RH12365;RH93047;SHGC-83394 HIP-I;ILWEQ;MGC126506 HIP-1;HIP-I;OTTHUMP00000209129;OTTHUMP00000209130;huntingtin-interacting protein 1;huntingtin-interacting protein I APPROVED protein-coding ENSG00000127946 4913 03461 176807;601767 REVIEWED 733372 HIP1R huntingtin interacting protein 1 related 12 12 q24 121885992 121913460 + 123320039 123347507 + 6480464 21189155;11063258;14732715;11889126;15533940;19255499;18790740;18165318;17928447;17452370;16415883;15588756;15581353;14760703;14742709;14702039;12477932;9734811;1189126;9852681;17318189;20379614;21292315;23383273;22939629;21987572;21139048;21890473;21906983;15090612;22505724 9026 B3KN98;B3KQW8;H0YH66;O75146;Q6NXG8 AB013384;AB014555;ABBA01060446;AC027290;AK024062;AK090537;AK295389;AK298387;AK307446;AK308538;AMYH01004833;AW962010;BC011354;BC038981;BC067085;CF454957;CH236948;CH471054;NM_003959 AAH67085;BAA31630;BAA33713;BAG51260;BAG52180;BAG58343;BAG60622;EAW98346;EAW98347;NP_003950;O75146 Hs.524815;Hs.714965 1688793;1694854 G44296;RH15622 FLJ14000;FLJ27022;HIP12;HIP3;ILWEQ;KIAA0655;MGC47513 HIP-12;HIP1-related protein;OTTHUMP00000239377;huntingtin interacting protein 12;huntingtin-interacting protein 1-related protein;huntingtin-interacting protein 12 protein-coding ENSG00000130787 18415 10412 605613 VALIDATED 7204960 HIRAP1 HIR histone cell cycle regulation defective homolog A pseudogene 1 10 25980468 25981257 + 100422545 ABBA01034427;AC018509;AMYH01002199;NG_025478 1678847 RH92888 pseudo 44916 INFERRED 1312671 HIPK1 homeodomain interacting protein kinase 1 The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 112701213 112749655 + 114273519 114321945 + 114471996 114520491 + 6480464 12529400;12702766;15701637;15489334;15231748;14702039;12968034;12477932;9748262;9734811;19250734;16917507;18029348;19646965;20936779;16390825;23071292;21890473;21906983;22173032;22645275 204851 B4DZ33;D6RC95;D6RF28;H3BLW0;J3KP92;J3KQS0;Q5SQL3;Q8NEB6 AA995033;AB014530;AB089957;ABBA01068459;AK122662;AK302726;AL137856;AL731797;AL833829;AMYH01000964;BC028408;BC033012;BC033339;BC036057;BC052493;CH471122;NM_152696;NM_181358;NM_198268;NM_198269 AAH28408;AAH33012;AAH36057;BAA31605;BAC57075;BAG53650;BAG63945;CAD38689;EAW56585;EAW56586;EAW56587;EAW56588;EAW56589;EAW56590;EAW56591;EAW56592;EAW56593;NP_689909;NP_852003;NP_938009;NP_938010;Q86Z02 Hs.532363 1650860;1653806;1692230;1736878;1779590;2126875;2130507;2133661;2163913;2219138 AL033774;D1S2123;D1S3596;HIPK1__6720;RH68556;RH79244;SHGC-153565;SHGC-16738;SHGC-37254;SHGC-75353 KIAA0630;MGC26642;MGC33446;MGC33548;Myak;Nbak2 OTTHUMP00000013763;OTTHUMP00000013764;OTTHUMP00000013766;OTTHUMP00000013767;OTTHUMP00000013768;OTTHUMP00000218031;OTTHUMP00000218034;homeodomain interacting protein kinase 1-like protein;homeodomain-interacting protein kinase 1;nuclear body associated kinase 2b;nuclear body-associated kinase 2 APPROVED protein-coding ENSG00000163349 19006 06418 608003 REVIEWED 1319649 HIPK2 homeodomain interacting protein kinase 2 This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 7 7 q32-q34 138907915 138967017 - 139415730 139477693 - 1580863;6480464;6484113 18395248;11593421;12220523;9748262;14990717;14647468;15122315;14678985;18029348;19438900;19128456;19046997;19043406;19015637;18996371;18809579;18695000;18644116;18536714;18483253;18408760;18093972;17960875;17627287;17533375;17349959;17332358;17290307;17245128;17018294;16738336;16601678;16467083;16407227;16343438;16253240;16212962;15958389;15896780;15766567;15708980;15146197;14626429;14609633;12907596;12874272;12853948;12851404;12690205;12477932;11925430;11798164;11780126;11740489;11438542;11267674;11120354;11032752;10559189;10535925;9110174;8619474;18765672;15082531;14667819;11532197;21569099;22395153;22236966;21248071;21173028;19950553;20624637;11875057;16730941;16917507;19448668;19567674;19668373;19714248;19794125;19820693;19828042;20379614;16055500;20936779;20849851;20980392;20573984;20940704;20418953;21248371;21192925;21285352;21514416;19465479;18974774;22689412;19642869;21715331;9847074;21602882;22503103;21057547;21906983;22110707;22658722;22406746;21963094;21988832;23144866;19250734;20188669;21145359 28996 H7BXX9;Q9H2X6 AACC02000022;AACC02000023;AACC02000024;ABBA01001194;ABBA01034050;ABBA01034051;ABBA01034052;AC005531;AC006021;AC073184;AC141932;AC232988;AF055019;AF111850;AF207702;AF208291;AF326592;AI580907;AK074291;AL833223;AMYH01017977;AMYH01017978;AMYH01017980;BC041926;BC043184;BC043652;BC045719;BX647377;CH236950;CH471070;CK818532;CN413736;CQ967477;NM_001113239;NM_022740 AAF16689;AAG35710;AAG41236;AAI68360;AAL37371;AAS00368;CAI38625;EAL24035;EAW83925;EAW83926;EAW83927;EAW83928;EAW83929;NP_001106710;NP_073577;Q9H2X6 Hs.731417 1643952;1657330;1663354;1664077;1679205;1684540;1773401;1790545;1846960;1853355;2111360;2120705;2131187;2136658;2136660;2155232;2156549;2157019;2166394;2167008;2168005;2169771;2178747;2179868 A005N45;A006W25;D4S3203;D7S1876E;D7S2098E;D7S2129E;D7S2142E;D7S2728;G20366;GDB:4585152;GDB:4585291;GDB:4585382;GDB:4585413;GDB:4585507;HSC188_(GAP_109_G);RH11956;RH12870;RH69335;RH75568;RH79233;RH93472;SHGC-36801;SHGC-37120;SHGC-5597 DKFZp686K02111;FLJ23711;PRO0593 OTTHUMP00000212368;OTTHUMP00000212369;hHIPk2;homeodomain-interacting protein kinase 2 APPROVED protein-coding ENSG00000064393 14402 06039 606868 VALIDATED 731500 HIPK3 homeodomain interacting protein kinase 3 11 11 p13 33235744 33332515 + 33279168 33375939 + 6480464 11034606;14766760;17210646;16554811;16000324;15592455;15231748;10961991;10737800;10640824;10640736;9748262;9725910;9373137;20677014;20936779;18029348;10919273;20347265;21906983;12477932;21963094 10114 E9PKD7;Q9H422 AA456456;ABBA01060890;ABBA01060891;ABBA01060892;AF004849;AF305239;AK293009;AK304063;AK315277;AL122015;AL136126;AL597397;AMYH01003483;AW819916;AY425958;BC030112;BF332205;BX117467;CH471064;DR000092;HY053621;NM_001048200;NM_001278162;NM_001278163;NM_005734;Y09306 AAC64294;AAG25990;AAI46312;AAI56874;AAR07951;BAF85698;BAG64970;CAA70489;EAW68198;EAW68199;NP_001041665;NP_001265091;NP_001265092;NP_005725;Q9H422 Hs.201918;Hs.709696 1338948;1653691;1688690;1716049;1723457;1734022;1770980;1779218;2116837;2185795;2191185;2219796 D11S2165;D11S2229E;D11S4101;D11S4548;G16978;HIPK3__6530;MARC_16007-16008:1017070197:5;RH118547;RH120963;RH98961;SHGC-152852;STS-L37773 DYRK6;FIST3;PKY;YAK1 ANPK;FIST;OTTHUMP00000163106;OTTHUMP00000163107;OTTHUMP00000232315;androgen receptor-interacting nuclear protein kinase;fas-interacting serine/threonine-protein kinase;homeodomain-interacting protein kinase 3;homolog of protein kinase YAK1 protein-coding ENSG00000110422 4915 05111 604424 VALIDATED 1316795 HIPK4 homeodomain interacting protein kinase 4 19 19 19 q13.2 37684720 37695637 - 45577018 45587934 - 40885178 40896094 - 1580863;6480464 18022393;15489334;14702039;12477932 147746 B4DWX2;Q8NE63 ABBA01040754;ABBA01040755;AC010271;AK057380;AK292228;AK301713;AK302301;AMYH01009800;AMYH01009801;BC034501;CH471126;CQ891383;HC007020;HC044799;NM_144685 AAH34501;BAB71458;BAF84917;BAG63184;BAG63641;CAH68679;CBH19315;CBH30729;EAW56960;EAW56961;NP_653286;Q8NE63 Hs.79363 1659249;1689121;5122351 6;RH93208;WI-22529 FLJ32818 homeodomain-interacting protein kinase 4 protein-coding ENSG00000160396 19007 13652 611712 PROVISIONAL 1346310 HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae) This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008] 22 22 q11.21 17698224 17799219 - 19318224 19419219 - 1580863;6480464 11342215;9731536;7633437;9710638;19046189;19029251;17242207;16980972;16024922;15621527;15561718;15489334;15461802;15231747;12477932;11238922;8995764;8681138;8111380;19913121;20628086;20211137;18378699;17242198;14718166;21414300;21724829;21347226;21807893;21890473;21906983;22195966;22401310;19322201 7290 F5H4M2;H7C2A7;L7N2F8;P54198 ABBA01005412;ABBA01005413;ABBA01005414;ABBA01005415;ABBA01005416;ABBA01005417;ABBA01005418;ABBA01005419;AC000079;AC000085;AC000092;AK289809;AK299950;AK302835;AK308642;AMYH01012478;AMYH01012479;BC032721;BC039835;CH471176;CR456503;NG_009231;NM_003325;X75296;X77633;X81844;X89887;X91501 AAH32721;AAH39835;BAF82498;BAG61778;BAH13816;CAA53044;CAA54721;CAA57436;CAA61979;CAA62800;CAG30389;CAK54532;CAK54831;EAX03043;EAX03044;NP_003316;P54198 Hs.474206 1335637;1676276;1693658;1732065;1732073;1734292;1734294;1739445;1744169;1776745;1851058;2112428;2112448;2112454;2112462;2112466;2112470;2112472;2171926;5022608 D22S1039;D22S1095E;D22S1606;D22S1615;D22S1620;D22S1645;D22S1648;D22S1655;D22S1658;D22S446;D22S447;D22S451;D22S609;D22S941;D22S942;GDB:434686;RH27840;RH77784;SHGC-58589;STS-X89887 DGCR1;TUP1;TUPLE1 DiGeorge critical region gene 1;OTTHUMP00000196395;OTTHUMP00000196396;TUP1-like enhancer of split protein 1;protein HIRA APPROVED protein-coding ENSG00000100084 4916 02583 600237 REVIEWED 1348498 HIST1H1PS1 histone cluster 1, H1, pseudogene 1 6 p22.1 26195794 26195999 + 387325 ABBA01066554;AL031777;AMYH01016162;NG_029660 FLJ39701;H1F6P;dJ34B20.16 APPROVED pseudo 19163 INFERRED 1315096 HIRIP3 HIRA interacting protein 3 The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011] 16 16 16 p11.2 72788309 72791410 + 29911817 29914888 - 30003642 30007417 - 1580863;6480464 9710638;17391060;17081983;16964243;16083285;15489334;15302935;12477932;16344560;8889548;16169070;19242545;16751776;22863883;7757816;21832049 8479 Q9BW71 ABBA01013110;AC093512;AJ223349;AJ223350;AJ223351;AK075145;AK312504;AMYH01007497;BC000588;BE207110;BM673568;BU629222;BU730222;BX101682;CH471238;DA716463;DA784706;NM_001197323;NM_003609;Z25386 AAH00588;ADZ15698;BAG35406;BAG52072;CAA11273;CAA11274;CAA11275;EAW79960;EAW79961;NP_001184252;NP_003600;Q9BW71 Hs.567370 1679379;1687223;1736570 D16S2561E;RH25926;RH99036 HIRA-interacting protein 3;OTTHUMP00000162998 APPROVED protein-coding ENSG00000149929 4917 04531 603365 REVIEWED 1346974 HIST1H1PS2 histone cluster 1, H1, pseudogene 2 6 6 6 p21.3 27243559 27244293 + 26124314 26125048 + 26016335 26017069 + 9119399;9031620;20966902 10338 ABBA01066552;AMYH01016161;NG_029342;U91328;X67080 H3FEP;pH3/e pseudo 4770 INFERRED 1313894 HIST1H1A histone cluster 1, H1a Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p21.3 26125239 26126019 - 26017260 26018040 - 1580863;6480464 7989039;15595731;15489334;14985337;12477932;12408966;11266453;11130728;10893414;10523312;10022855;9760185;9119399;8814229;8325638;7499230;2759094;1989977;8565853;14595808;8463339;15205535;20356835;9247342;9325046;17214964;11836499;11940657;15998794;16314418;19631451;7790358;17048991;20800603;15456770;16431907;16696975;21425800;11467742;8003976;12686141;16622419;9380698;9885575;11060286;15064750;15583032;17293600;20431927;9149941;20064938;12056906;12963725;15308690;8606778;9199321;9464540;14993289;20923784;8692842;19882353;19596686;21940793;10198259;10362260;10393546;17620599;22158041;22586326;8393783;8397206;8397207;8537403;8647086;8867812;9053846;9178893;9380407;9632134;9840927;20639865;21139048;21906983;22178446;11132966;17431037;10447003;11063125;13678583;21044950;9860976;15927069;18667424;21088490;17371838;7629134;14597612;20551309;22505724 3024 Q02539 ABBA01066552;AF531299;AMYH01016161;BC069492;BC101593;BC112140;CH471087;NM_005325;U91328;X57130 AAH69492;AAI01594;AAI12141;AAN06699;ABZ92487;CAA40409;EAW55507;NP_005316;Q02539 Hs.150206 1773925;1794540;2147090;5492589;5493503 PMC316937P2;RH46871;STS-Z46261;UniSTS:481727;UniSTS:486945 H1.1;H1A;H1F1;HIST1;MGC126642;MGC138345 H1 histone family, member 1;OTTHUMP00000018038;histone H1.1;histone H1a APPROVED protein-coding ENSG00000124610 4715 00820 142709 REVIEWED 1351111 HIST1H1B histone cluster 1, H1b Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 p22.1 27942549 27943404 - 27834570 27835359 - 1580863;6480464 19136008;17081983;16377619;16216881;16185066;15635413;15595731;15489334;15469825;14574404;12686141;12477932;12408966;11266453;9873047;9439656;9119399;9031620;8325638;7629134;6719136;3782055;3182772;2829131;2613692;11581402;17540172;20800603;11980914;22863883;15978696;17403666;19596686;19882353;11467742;8003976;14612406;14681231;14701826;15169570;15514162;15607961;15670215;15753125;16191191;16205633;16762841;17671428;17699765;21110914;21654845;22178446;19318554;21113133;21890473;21906983;15927069;22145905;10997781;11746507;16120603;18560763;20956543;21425800;22505724 3009 P16401;Q14463 ABBA01038011;AF531304;AMYH01016189;BC069101;BC101581;BC101583;CH471081;K02570;M23203;NM_005322;X06757;X83509;Z98744 AAA35943;AAH69101;AAI01582;AAI01584;AAN06704;ABZ92488;CAA29930;CAA58498;EAX03119;NP_005313;P16401 Hs.131956 1773753;5492449;5493015 RH71295;UniSTS:481111;UniSTS:483747 H1;H1.5;H1B;H1F5;H1s-3;MGC126630;MGC126632 H1 histone family, member 5;OTTHUMP00000017748;histone H1.5;histone H1a;histone H1b;histone H1s-3 APPROVED protein-coding ENSG00000184357 4719 00821 142711 REVIEWED 1343160 HIST1H1C histone cluster 1, H1c Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p21.3 26163894 26164678 - 26055968 26056699 - 1580863;6480464 18568448;18258596;17879944;17081983;16854430;15635413;15595731;15489334;12477932;12408966;10997781;10893414;9439656;8325638;8055927;2759094;2613692;20587610;16169070;20800603;15009096;16431907;20431927;22863883;22939629;16196087;19135240;20618440;17620599;11467742;21252943;8003976;15927069;19471022;21907836;21110914;22249259;15848144;17370265;18781797;19596686;20639865;21081666;21139048;21693764;21825151;21890473;21903422;21906983;21963094;21987572;22178446;11746507;21113133;21628590;22234250;17361185;21145461;21425800;22053931;22505724 3006 P16403 AB451259;AB451385;ABBA01066552;AF531300;AK290947;AMYH01016161;BC002649;CH471087;NM_005319;U91328;X57129 AAN06700;ABZ92489;ACE86751;ACE87439;BAF83636;BAG70073;BAG70199;CAA40408;EAW55515;NP_005310;P16403 Hs.7644 2141175;5126637;5492300 Hist1h1e;RH67930;WI-11794 H1.2;H1C;H1F2;H1s-1;MGC3992 H1 histone family, member 2;OTTHUMP00000017749;histone H1.2;histone H1c;histone H1d;histone H1s-1 APPROVED protein-coding ENSG00000187837 4716 07514 142710 REVIEWED 1345991 HIST1H2AB histone cluster 1, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27260544 27261020 - 26141299 26141775 - 26033320 26033796 - 1580863;6480464;6907045 6647026;16702407;16359901;15823041;15635413;15386022;15078818;15010469;14993289;14657027;12477932;12408966;11689053;18247557;21145461;11080476;9566873;9439656;9119399;20379614;9149941;11003660;11830591;11884585;22863883;19847302;20080577;21110914;18781797;19596686;20639865;21628590;22505724 8335 P04908;Q08AJ9 ABBA01066552;AK311785;AMYH01016161;AY131983;BC125140;CH471087;NM_003513;U91328;X00089;Z83741 AAI25141;AAI66650;AAN59964;BAG34728;CAA24951;CAB06036;EAW55512;NP_003504;P04908 Hs.248174 1648766;2183514;2220410;2220628 STS-X00089;STS-Z83741;UniSTS:481651;UniSTS:486359 H2A/m;H2AFM;HIST1H2AE H2A histone family, member M;OTTHUMP00000016137;histone H2A type 1-B/E;histone H2A.2;histone H2A/a;histone H2A/m APPROVED protein-coding ENSG00000137259 4734 09105 602795 REVIEWED 1345558 HIST1H1E histone cluster 1, H1e Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p21.3 26264538 26265322 + 26156559 26157343 + 1580863;6480464 17474147;17540172;19144645;18314153;17081983;16127177;15635413;15595731;15489334;14574404;12498347;12477932;12408966;9439656;9119399;8325638;7607502;3782055;1916825;15469825;20800603;22939629;11467742;21252943;8003976;22465951;19135240;10997781;11746507;22425985;22514736;22586326;19596686;21139048;21852232;21890473;21906983;22178446;15927069;21907836;22863883;21425800;22505724 3008 A3R0T8;P10412 ABBA01066553;AF531302;AK313681;AL353759;AMYH01016162;BC096168;BC096169;BC096170;BC099632;CH471087;EF065554;EF065555;M60748;NM_005321 AAA63187;AAH96168;AAH96169;AAH96170;AAH99632;AAN06702;ABN72276;ABN72277;BAG36431;EAW55534;NP_005312;P10412 Hs.248133 1734016;2159120;5492809 D12S1124;RH69154;UniSTS:482713 H1.4;H1E;H1F4;H1s-4;MGC116819;dJ221C16.5 H1 histone family, member 4;OTTHUMP00000016139;histone H1.4;histone H1b;histone H1s-4 APPROVED protein-coding ENSG00000168298 4718 07513 142220 REVIEWED 737047 HIST1H1T histone cluster 1, H1t Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27336922 27337646 - 26215619 26216343 - 26107640 26108364 - 1580863;6480464 1889752;17081983;15489334;12477932;12408966;10529182;9809674;9765591;9119399;8325638;8175896;20587610;19820698;9149941;20618440;21151833;21906983;22178446;21110914;15927069;21909110;22505724 3010 P22492 ABBA01066552;AF531301;AMYH01016162;BC069517;BC130350;CH471087;M60094;M97755;NM_005323;U91328 AAA19936;AAA35944;AAH69517;AAI30351;AAN06701;ABZ92491;ADR82850;EAW55529;NP_005314;P22492 Hs.533293 1652290;1663934;5492391;5492807;5493781 RH71393;STS-M60094;UniSTS:480904;UniSTS:482714;UniSTS:494823 H1FT;H1t;MGC163222;dJ221C16.2 H1 histone family, member T (testis-specific);OTTHUMP00000016147;histone H1t;testicular H1 histone APPROVED protein-coding ENSG00000187475 4720 00822 142712 REVIEWED 1343145 HIST1H1D histone cluster 1, H1d Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27463747 27464523 - 26342419 26343195 - 26234440 26235216 - 1580863;6480464 18391950;17081983;15635413;15595731;15489334;14574404;12477932;12408966;11478838;9439656;9119399;8325638;2613692;2071153;1916825;12777385;18457437;19596686;19882353;19266077;19343178;19893584;11691934;20685720;20846217;11467742;8003976;10997781;11746507;20618440;21131960;22586326;21110914;21139048;21906983;22178446;15927069;21907836;22145905;18850315;17361185;21425800;22505724;22797925 3007 P16402 ABBA01066554;AF531303;AK312845;AL031777;AMYH01016162;BC104874;BC111971;CH471087;M60747;NM_005320 AAA63186;AAI04875;AAI11972;AAN06703;ABZ92490;BAG35698;EAW55548;NP_005311;P16402 Hs.136857 1676077;1791494;5492579;5492907 PMC111054P3;RH79903;UniSTS:481723;UniSTS:483214 H1.3;H1D;H1F3;H1s-2;MGC138176 H1 histone family, member 3;OTTHUMP00000016148;histone H1.3;histone H1c;histone H1s-2 APPROVED protein-coding ENSG00000124575 4717 06764 142210 REVIEWED 1349225 HIST1H2AA histone cluster 1, H2aa Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 26953503 26954002 - 25834270 25834769 - 25726291 25726790 - 1580863;6480464;6907045 16702407;16359901;15823041;15489334;15386022;15078818;15010469;14657027;14574404;12477932;12408966;11689053;11080476;9566873;18247557;17207965;20431927;22939629;21858012;21628590;18781797;20639865;22178446;21906983 221613 Q96QV6 ABBA01066548;AL512384;AMYH01016160;AY131982;BC062211;CH471087;NM_170745 AAH62211;AAN59963;ADQ32036;EAW55489;NP_734466;Q96QV6 Hs.406739 2106493;2220408 HIST1H2BA__6542;UniSTS:481642 H2AA;H2AFR;bA317E16.2 H2A histone family, member R;OTTHUMP00000016122;histone 1, H2aa;histone H2A type 1-A;histone H2A/r APPROVED protein-coding ENSG00000164508 18729 13653 613499 REVIEWED 1342566 HIST1H2AD histone cluster 1, H2ad Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27428315 27428774 - 26306991 26307450 - 26199012 26199471 - 1580863;6480464;6907045 14657027;12477932;12408966;11689053;11080476;10384058;9566873;9439656;9119399;22939629;15009096;20639865;21906983;22118674;18247557;20881960;22505724 3013 B2R5B6;P20671 ABBA01066554;AK312127;AL031777;AMYH01016162;AY131985;BC093807;BC093809;BC128035;CH471087;CR541970;CR541999;NM_021065;Z80776 AAH93807;AAH93809;AAI28036;AAN59966;ABZ92492;BAG35063;CAB02538;CAG46768;CAG46796;EAW55542;NP_066409;P20671 Hs.626666;Hs.679229 2138536;2165222;2220458;2220600 RH66549;RH77901;UniSTS:482908;UniSTS:485722 H2A.3;H2A/g;H2AFG;HIST1H3D H2A histone family, member G;OTTHUMP00000016153;histone H2A type 1-D;histone H2A.3;histone H2A/g;histone H2AD APPROVED protein-coding ENSG00000196866 4729 07534 602792 REVIEWED 1345959 HIST1H2AC histone cluster 1, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27353637 27354182 + 26232352 26232897 + 26124373 26124918 + 1580863;6480464;6907045 15489334;15823041;15635413;15386022;15078818;15010469;14657027;12477932;12408966;11689053;11080476;9566873;9439656;9149941;9119399;16702407;16457589;16359901;16319397;16169070;20085707;21906983;20639865;20972266;21139048;21890473;21963094;21987572;22053931;22623428;22810585;23000965;15576338;22505724 8334 Q93077 ABBA01066552;AK311811;AL353759;AMYH01016162;AY131984;BC017379;BC050602;BC085010;CH471087;NM_003512;U90551;U91328;Z80778 AAB53429;AAB82086;AAN59965;BAG34754;CAB02540;EAW55532;EAW55533;NP_003503;Q93077 Hs.744119 1670417;1847379;1849932;2115653;2122311;2169970;2220636 A006T34;A008J29;D6S2133;RH46705;RH46761;STS-H58932;UniSTS:486876 H2A/l;H2AFL;MGC99519;dJ221C16.4 H2A histone family, member L;OTTHUMP00000016145;histone H2A type 1-C;histone H2A/l;histone H2AC APPROVED protein-coding ENSG00000180573 4733 09104 602794 REVIEWED 1344301 HIST1H2AG histone cluster 1, H2ag Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 28706816 28709070 + 27208800 27211050 + 27100817 27101314 + 6480464;6907045 21145461;14657027;12477932;12408966;11689053;11080476;10384058;10064132;9566873;9439656;8179821;11799066;17980597;19571809;22863883;17342744;17620599;19596686;22118674;21628590;22505724 8969 A4FTV9;B2R5B3;P0C0S8 ABBA01037988;AK312124;AL021807;AMYH01016186;AY131987;BC016677;BC067782;CH471081;L19778;NM_021064 AAC24466;AAH16677;AAN59968;ABM81950;ABM85130;ABM85212;BAG35060;EAX03083;NP_066408;P0C0S8 Hs.51011 1646822;1685307;1792760;1794538;5014051;5037552 D8S2278;D8S2279;PMC162237P1;PMC316937P1;RH91410;SGC35270 H2A.1b;H2A/p;H2AFP;H2AG;HIST1H2AI;HIST1H2AK;HIST1H2AL;HIST1H2AM;pH2A/f H2A histone family, member P;H2A.1;OTTHUMP00000016174;histone 1, H2ag;histone H2A type 1;histone H2A/p APPROVED protein-coding 4737 13654 615012 REVIEWED 1353821 HIST1H2AE histone cluster 1, H2ae Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27446451 27447014 + 26325127 26325690 + 26217148 26217711 + 1580863;6480464;6907045 16702407;16457589;16359901;16319397;15823041;15489334;15386022;15078818;15010469;14657027;14574404;12477932;12408966;21110914;17267499;18247557;21145461;11709551;11689053;11080476;9566873;9439656;9325046;9119399;1916825;14993289;11964378;16196087;18781797;19596686;20639865;21987572;21113133;21628590;22505724 3012 P04908;Q08AJ9 ABBA01066554;AL031777;AMYH01016162;AY131986;BC093836;BC093862;CH471087;M60752;NM_021052 AAA63191;AAH93836;AAH93862;AAN59967;ABZ92493;EAW55546;NP_066390;P04908 Hs.121017 1700132;1858381;2220476;2220516 RH103679;RH69155;UniSTS:483215;UniSTS:483862 H2A.1;H2A.2;H2A/a;H2AFA;HIST1H2AB H2A histone family, member A;OTTHUMP00000016155;histone H2A type 1-B/E;histone H2A.2;histone H2A/a;histone H2A/m;histone H2AE APPROVED protein-coding ENSG00000168274 4724 04152 602786 REVIEWED 1343258 HIST1H2APS1 histone cluster 1, H2a, pseudogene 1 6 p22.2 25732661 25733089 + 387319 ABBA01066548;AL512384;AMYH01016160;DB441866;NR_045125 Hs.741681 H2AFSP;bA317E16.5 APPROVED pseudo 18720 PROVISIONAL 1344934 HIST1H2APS2 histone cluster 1, H2a, pseudogene 2 6 6 6 p22 27109346 27109836 - 25990133 25990623 - 25882154 25882644 - 10384058 85303 ABBA01066551;AF098457;AL138726;AMYH01016160;NG_002685 1853524;2189683 D6S2236;D6S2384 H2A/T;H2AFTP;dJ139G21.2 histone 1, h2a, pseudogene 2 pseudo 18804 INFERRED 1348318 HIST1H2APS3 histone cluster 1, H2a, pseudogene 3 6 p22.1 26233350 26233483 + 18391950;18391951;19343178 387323 ABBA01066554;AL031777;AMYH01016162;NG_029661 H2AFUP;dJ34B20.8 APPROVED pseudo 18805 INFERRED 1348354 HIST1H2APS4 histone cluster 1, H2a, pseudogene 4 6 6 6 p21.3 27501728 27502075 - 26380400 26380747 - 26272421 26272768 - 9119399;21139048 8333 Q92646 ABBA01066554;AL031777;AMYH01016162;NG_000876;Z80777 CAB02539 2108139;2150883;2220416;2220480 HIST1H2BI_8797;RH47051;UniSTS:481665;UniSTS:483442 H2A/k;H2AFK;H2AFKP;dJ34B20.2;pH2A/k histone 1, h2a, pseudogene 4 pseudo 4732 INFERRED 1346479 HIST1H2AI histone cluster 1, H2ai Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29382015 29382483 + 27883956 27884424 + 27775977 27776445 + 6480464;6907045 14657027;12477932;12408966;11689053;11080476;10064132;21145461;9566873;9439656;19850743;22118674;21628590;22505724 8329 A4FTV9;P0C0S8 ABBA01038011;AK311766;AL009179;AMYH01016189;AY131989;BC112254;BC112256;CH471081;NM_003509;Z83742 AAI12255;AAI12257;AAN59970;ABZ92494;BAG34709;CAB06037;EAX03107;NP_003500;P0C0S8 Hs.534035 2219798;2220370;2220676 HIST1H2BL__6546;UniSTS:480831;UniSTS:490240 FLJ92027;H2A/c;H2AFC;HIST1H2AG;HIST1H2AK;HIST1H2AL;HIST1H2AM H2A histone family, member C;H2A.1;OTTHUMP00000016183;histone H2A type 1;histone H2A/p APPROVED protein-coding ENSG00000196747 4725 04153 602787 REVIEWED 1344950 HIST1H2APS5 histone cluster 1, H2a, pseudogene 5 6 6 6 p21.3 27273410 27274060 + 26152107 26152757 + 26044128 26044778 + 8227173 10341 ABBA01066552;AMYH01016161;NG_029344;U91328;X57131 1677953;2220392 RH80237;UniSTS:481137 H2AFFP;pH2A/f pseudo 4728 INFERRED 5487908 HIST1H2APS6 histone cluster 1, H2a, pseudogene 6 13 q13.3 37064187 37064578 - 11181995 100509927 ABBA01021357;AL159980;AMYH01005038;CH471075;NG_029174 EAX08567 pseudo 42647 INFERRED 1319217 HIST1H2AL histone cluster 1, H2al Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29439143 29439612 + 27941086 27941555 + 27833107 27833576 + 6480464;6907045 14657027;12489984;12477932;12408966;11689053;11080476;10064132;10022855;9651585;9566873;9439656;9031620;1989977;21145461;17207965;22118674;21044950;22505724 8332 A4FTV9;P0C0S8 ABBA01038011;AMYH01016189;AY131992;BC069306;BC112072;CH471081;NM_003511;X83549;Z98744 AAH69306;AAI12073;AAN59973;ADQ32946;CAA58539;EAX03118;NP_003502;P0C0S8 Hs.233568 2220368;5492963 UniSTS:480830;UniSTS:483440 H2A.i;H2A/i;H2AFI;HIST1H2AG;HIST1H2AI;HIST1H2AK;HIST1H2AM;dJ193B12.9 H2A histone family, member I;H2A.1;OTTHUMP00000016189;histone 1, H2al;histone 1, H2am;histone H2A type 1;histone H2A/p APPROVED protein-coding ENSG00000198374 4730 09103 602793 REVIEWED 1342935 HIST1H2AJ histone cluster 1, H2aj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29388118 29388556 - 27890059 27890497 - 27782080 27782518 - 6480464;6907045 14657027;12477932;12408966;11790298;11689053;11080476;10064132;9566873;9439656;8814229;21145461;17207965;21628590;19471022;20972266;22505724 8331 Q99878 ABBA01038011;AL049822;AMYH01016189;AY131990;BC066232;BC066233;BC066234;BC066235;BC066236;BC066237;BC133048;BC133050;CH471081;NM_021066;Z83736 AAH66232;AAH66233;AAH66234;AAH66235;AAH66236;AAH66237;AAI33049;AAI33051;AAN59971;ADQ31933;CAB06031;EAX03109;NP_066544 Hs.406691 2108141;2220412;2220420 HIST1H2BM_8793;UniSTS:481657;UniSTS:481732 H2A/E;H2AFE;dJ160A22.4 H2A histone family, member E;OTTHUMP00000016185;histone cluster 1, H2aj APPROVED protein-coding 4727 09102 602791 REVIEWED 1349795 HIST1H2AH histone cluster 1, H2ah Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 28720909 28721395 + 27222887 27223373 + 27114908 27115346 + 1580863;6480464;6907045 17074886;16702407;16359901;16319397;15823041;15489334;15386022;15078818;15010469;14657027;14574404;12477932;12408966;11689053;11080476;10384058;10064132;9566873;21319273;22118674;21906983;21853274;22053931;22505724 85235 A3KPC7;Q96KK5 ABBA01037988;AK312232;AL021807;AMYH01016186;AY131988;BC093849;BC093851;BC134366;BC148293;CH471081;NM_080596 AAH93849;AAH93851;AAI34367;AAI41470;AAI48294;AAN59969;BAG35165;EAX03087;NP_542163;Q96KK5 Hs.352225 2110449;2112344;2220360;2220456;2220482 D6S2252;HIST1H2AH__7487;UniSTS:480645;UniSTS:482788;UniSTS:483466 H2A/S;H2AFALii;H2AH;MGC171151;dJ86C11.1 H2A histone family member;OTTHUMP00000016173;histone 1, h2ah;histone H2A type 1-H;histone H2A/s APPROVED protein-coding ENSG00000184825 13671 13655 615013 REVIEWED 1312612 HIST1H2AK histone cluster 1, H2ak Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29411662 29412160 - 27913605 27914103 - 27805658 27806117 - 1580863;6480464;6907045 16702407;16457589;16359901;16319397;15823041;15635413;15489334;15386022;15078818;15010469;14657027;14574404;12477932;12408966;11689053;11080476;10064132;9566873;9439656;21145461;20618440;22118674;21628590;22505724 8330 A4FTV9;P0C0S8 ABBA01038011;AK311941;AMYH01016189;AY131991;BC034487;BC104198;BC104199;CH471081;NM_003510;Z83739;Z98744 AAH34487;AAI04199;AAI04200;AAN59972;BAG34882;CAB06034;EAX03113;NP_003501;P0C0S8;Q99878 Hs.734717 2141524;2220648;2220668 AL021849;UniSTS:487023;UniSTS:489748 H2A/d;H2AFD;HIST1H2AG;HIST1H2AJ;HIST1H2AL;HIST1H2AM H2A histone family, member D;H2A.1;OTTHUMP00000018006;histone H2A type 1;histone H2A type 1-J;histone H2A/e;histone H2A/p APPROVED protein-coding ENSG00000184348 4726 09100 602788 REVIEWED 1323073 HIST1H2AM histone cluster 1, H2am Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 p22.1 27968456 27968942 - 27860477 27860963 - 6480464;6907045 16702407;16457589;16359901;16319397;15823041;15489334;15386022;15078818;15010469;14657027;14574404;12477932;12408966;11709551;11689053;11080476;10064132;9566873;9439656;8179821;7410338;1768865;21145461;16226712;21628590;22118674;22505724 8336 A4FTV9;P0C0S8 ABBA01038011;AMYH01016189;AY131993;BC032756;CH471081;NM_003514;X57138;Z98744 AAN59974;ABM82113;ABM85296;ADR82801;CAA40417;EAX03123;NP_003505;P0C0S8 Hs.134999 2175853;2220460 RH36055;UniSTS:482909 H2A.1;H2A/n;H2AFN;HIST1H2AG;HIST1H2AI;HIST1H2AK;HIST1H2AL;dJ193B12.1 H2A histone family, member N;OTTHUMP00000016191;histone H2A type 1;histone H2A/p APPROVED protein-coding ENSG00000233224 4735 09106 602796 REVIEWED 1352004 HIST1H2BA histone cluster 1, H2ba Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 26954349 26954785 + 25835116 25835552 + 25727137 25727573 + 1580863;6480464;6907045 16916647;16713563;16307923;16283522;15709765;15489334;14657027;14574404;12477932;12408966;12213818;11689053;11080476;9566873;8565853;12786946;21832049;22939629;18247557;19358706;20525793;20639865;22178446;8598932;21906983;22467210 255626 Q96A08 ABBA01066548;AF397301;AF531284;AK312055;AL512384;AMYH01016160;BC066238;BC066239;BC066240;BC066241;BC066242;BC066243;CH471087;NM_170610 AAH66238;AAH66239;AAH66240;AAH66241;AAH66242;AAH66243;AAK84040;AAN06684;BAG34991;EAW55490;NP_733759;Q96A08 Hs.591786 2106493;2220408 HIST1H2BA__6542;UniSTS:481642 H2BFU;STBP;TSH2B;bA317E16.3 H2B histone family, member U, (testis-specific);OTTHUMP00000016123;histone 1, H2ba;histone H2B type 1-A;histone H2B, testis;testis-specific histone H2B APPROVED protein-coding ENSG00000146047 18730 11024 609904 REVIEWED 1346859 HIST1H2BF histone cluster 1, H2bf Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27429090 27429519 + 26307766 26308195 + 26199787 26200216 + 6480464;6907045 14657027;12477932;12408966;11689053;11080476;10064132;9566873;9439656;9119399;422550;20881960;21907836;22505724 8343 B2R4S9;P62807 ABBA01066554;AF531289;AL031777;AMYH01016162;BC056264;BC096120;BC096123;CH471087;NM_003522;Z80779 AAH96120;AAH96123;AAN06689;CAB02541;EAW55543;NP_003513;P62807 Hs.182137 2138536;2165222;2220458;2220600 RH66549;RH77901;UniSTS:482908;UniSTS:485722 H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFG;HIST1H2BC;HIST1H2BE;HIST1H2BG;HIST1H2BI H2B histone family, member G;OTTHUMP00000016159;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding 4752 11900 602804 REVIEWED 1350317 HIST1H2BE histone cluster 1, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27413325 27413759 + 26292003 26292437 + 26184024 26184458 + 6480464;6907045 16916647;16713563;16627869;16319397;16307923;16283522;15489334;14657027;14574404;12757711;12477932;12408966;11689053;11080476;9566873;9439656;9119399;1768865;422550;21907836;22505724 8344 B2R4S9;P62807 ABBA01066554;AF531288;AL353759;AMYH01016162;BC101748;BC101750;CH471087;NM_003523;Z80780 AAI01749;AAI01751;AAN06688;ABZ92496;CAB02542;EAW55537;NP_003514;P62807 Hs.534369 2109387;2124898;2220414;2220580 HIST1H2BE_8795;RH47052;UniSTS:481659;UniSTS:485580 H2B.h;H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFH;H2BFN;HIST1H2BC;HIST1H2BF;HIST1H2BG;HIST1H2BI;dJ221C16.8 H2B histone family, member H;OTTHUMP00000016144;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding ENSG00000197697 4753 11901 602805 REVIEWED 1344863 HIST1H2BC histone cluster 1, H2bc Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27352959 27353396 - 26231674 26232111 - 26123695 26124132 - 6480464;6907045 422550;9119399;17353931;14657027;12477932;12408966;11689053;16307923;11080476;9566873;9439656;19414484;16522924;18404153;9149941;19343720;21907836;23084401;22174317;22505724 8347 B2R4S9;P62807 ABBA01066552;AF531286;AMYH01016162;BC009612;BC105595;BC106899;CH471087;NM_003526;U91328;Z80783 AAI05596;AAI06900;AAI60109;AAN06686;CAB02545;EAW55530;EAW55531;NP_003517;P62807 Hs.658713;Hs.726509 1670417;2169970;2220636 A008J29;RH46761;UniSTS:486876 H2B.1;H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFL;HIST1H2BE;HIST1H2BF;HIST1H2BG;HIST1H2BI;MGC104246;dJ221C16.3 H2B histone family, member L;OTTHUMP00000016141;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding 4757 13656 602847 REVIEWED 1343461 HIST1H2BB histone cluster 1, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 p21.3 26151434 26151864 - 26043455 26043885 - 1580863;6480464;6907045 9439656;16916647;16713563;16319397;16307923;16283522;15489334;14993289;14657027;12757711;12477932;12408966;11709551;11689053;11080476;9566873;9119399;8227173;1916825;17361185;21110914;18247557;21362548;10644696;11003660;11830591;11884585;11964378;19666485;9149941;20431927;21832049;22939629;18781797;21906983;21987572;22178446;20080577;22174317 3018 P33778 ABBA01066552;AF531285;AMYH01016161;BC096728;CH471087;NM_021062;U91328;X57127 AAH96728;AAN06685;ABZ92495;CAA40406;EAW55513;NP_066406;P33778 Hs.553494 1677953;2220392 RH80237;UniSTS:481137 H2B.1;H2B/f;H2BFF;MGC119804 H2B histone family, member F;OTTHUMP00000016138;histone H2B type 1-B;histone H2B.1;histone H2B.f APPROVED protein-coding ENSG00000196226 4751 07536 602803 REVIEWED 1312785 HIST1H2BI histone cluster 1, H2bi Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27502511 27502947 + 26381183 26381619 + 26273204 26273640 + 6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;16307923;20442396;20800603;21907836;22505724 8346 B2R4S9;P62807 ABBA01066554;AF531292;AL031777;AMYH01016162;BC101653;BC101655;CH471087;NM_003525;Z80782 AAI01654;AAI01656;AAN06692;ABZ92498;CAB02544;EAW55554;NP_003516;P62807 Hs.553506 2108139;2150883;2220416;2220480 HIST1H2BI_8797;RH47051;UniSTS:481665;UniSTS:483442 H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFK;HIST1H2BC;HIST1H2BE;HIST1H2BF;HIST1H2BG H2B histone family, member K;OTTHUMP00000016162;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding ENSG00000168242 4756 11903 602807 REVIEWED 1316135 HIST1H2BD histone cluster 1, H2bd Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27387650 27400878 + 26266328 26279556 + 26158349 26171577 + 1580863;6480464;6907045 16916647;16713563;16627869;16457587;16319397;16307923;16283522;15635413;15489334;14657027;14574404;12757711;12477932;12408966;11689053;11080476;9710638;9566873;9439656;9119399;1916825;20618440;15852347;21693764;21906983;22178446;21907836;22174317;22505724 3017 P58876;P62807 ABBA01066553;ABBA01066554;AF531287;AJ223353;AK292712;AL353759;AMYH01016162;BC002842;BC096122;BE245851;BM153714;CH471087;M60751;NM_021063;NM_138720 AAA63190;AAH02842;AAH96122;AAN06687;BAF85401;CAA11277;EAW55535;EAW55536;NP_066407;NP_619790;P58876 Hs.591797 1688799;1734016;1770145;2139136;2159120;2166489;2220458 D12S1124;D6S2372;RH47386;RH69154;RH80280;STS-N33927;UniSTS:482908 H2B.1B;H2B/b;H2BFB;HIRIP2;MGC90432;dJ221C16.6 H2B histone family, member B;HIRA-interacting protein 2;OTTHUMP00000016142;OTTHUMP00000016143;histone H2B type 1-D;histone H2B.1 B;histone H2B.b APPROVED protein-coding ENSG00000158373 4747 07535 602799 REVIEWED 1343164 HIST1H2BH histone cluster 1, H2bh Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 27481186 27481610 + 26359858 26360282 + 26251879 26252303 + 1580863;6480464;6907045 18247557;9119399;16916647;16713563;16627869;16457587;16319397;16307923;16283522;14657027;14574404;12757711;12477932;12408966;11689053;11080476;9566873;9439656;21906983;22174317;22505724 8345 Q93079 ABBA01066554;AF531291;AK312052;AL031777;AMYH01016162;BC096116;BC096117;BC096118;BC096119;CH471087;NM_003524;Z80781 AAH96116;AAH96117;AAH96118;AAH96119;AAN06691;BAG34988;CAB02543;EAW55552;NP_003515;Q93079 Hs.247815 1655170;1676608;2108137;2131627;2220388;2220518 HIST1H2BH_8796;RH47053;RH77902;RH80097;UniSTS:481058;UniSTS:483863 H2B/j;H2BFJ H2B histone family, member J;OTTHUMP00000016161;histone H2B type 1-H;histone H2B.j APPROVED protein-coding ENSG00000197459 4755 11902 602806 REVIEWED 1346575 HIST1H2BG histone cluster 1, H2bg Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 p21.3 26324407 26324851 - 26216428 26216872 - 6480464;6907045 16916647;16713563;16627869;16457587;16319397;16307923;16283522;15489334;15019208;14657027;14595808;14574404;12860195;12757711;12477932;12408966;11859126;11790298;11689053;11080476;9973324;9566873;18247557;9439656;9119399;8814229;8620898;1916825;422550;21130743;16196087;15161933;18457437;22616001;21907836;22505724 8339 B2R4S9;P62807 ABBA01066554;AF531290;AK311935;AL031777;AMYH01016162;BC082232;CH471087;M60750;NM_003518 AAA63189;AAN06690;ABZ92497;BAG34876;EAW55545;NP_003509;P62807 Hs.591809 1700132;1858381;2220476;2220516 RH103679;RH69155;UniSTS:483215;UniSTS:483862 H2B.1A;H2B/a;H2B/g;H2B/h;H2B/k;H2B/l;H2BFA;HIST1H2BC;HIST1H2BE;HIST1H2BF;HIST1H2BI;dJ221C16.8 H2B histone family, member A;OTTHUMP00000016160;histone 1, H2bf;histone 1, H2bi;histone H2B type 1-C/E/F/G/I;histone H2B.1 A;histone H2B.a;histone H2B.g;histone H2B.h;histone H2B.k;histone H2B.l APPROVED protein-coding ENSG00000187990 4746 11897 602798 REVIEWED 1348596 HIST1H2BJ histone cluster 1, H2bj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 p22.1 27208074 27208554 - 27100095 27100575 - 1580863;6480464;6907045 11799066;6647026;19084217;16916647;16713563;16627869;16319397;16307923;16283522;15019208;14657027;14574404;12860195;12757711;12686141;12477932;12408966;11859126;11709551;11689053;11080476;10384058;10064132;9566873;9439656;8620898;2917990;19571809;18247557;20211142;21890473;21906983;21987572;22488895;22586326 8970 P06899 ABBA01037988;AF531293;AK311849;AL021807;AMYH01016186;BC014312;CH471081;NM_021058;X00088 AAN06693;BAG34791;CAA24950;EAX03080;EAX03081;EAX03082;NP_066402;P06899 Hs.591807;Hs.656567 1646822;1792760;1794538;5037552 D8S2279;PMC162237P1;PMC316937P1;SGC35270 H2B/r;H2BFR;H2BJ H2B histone family, member R;OTTHUMP00000016175;histone 1, H2bj;histone H2B type 1-J;histone H2B.1;histone H2B.r APPROVED protein-coding 4761 13657 615044 REVIEWED 1348661 HIST1H2BPS2 histone cluster 1, H2b, pseudogene 2 6 6 6 p22.1 29437878 29438217 - 27939819 27940158 - 27831840 27832179 - 9031620 10340 ABBA01038011;AMYH01016189;NG_029324;X83547;Z98744 2220368 UniSTS:480830 H2BFIP;pH2B.i;pH2B/i pseudo 4754 INFERRED 1353528 HIST1H2BK histone cluster 1, H2bk Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 6 p21.33 28712071 28720638 - 27214052 27222598 - 27106072 27114637 - 1580863;6480464;6907045 16916647;16713563;16627869;16457587;16319397;16307923;16283522;15951514;15635413;15489334;15019208;14657027;14574404;12860195;12757711;12477932;12408966;11859126;11689053;11080476;10384058;10064132;9710638;9566873;8620898;1768865;16344560;19666485;18781797;19471022;21081666;21890473;21906983;21907836;22053931;22505724 85236 O60814 ABBA01037988;AF531294;AJ223352;AK292062;AL021807;AMYH01016186;BC000893;BC051872;BC064959;BC108737;CH471081;DA873786;NM_080593 AAH00893;AAH51872;AAH64959;AAI08738;AAN06694;ABZ92499;BAF84751;CAA11276;EAX03084;EAX03085;NP_542160;O60814 Hs.437275;Hs.689116 1654992;1681279;2110449;2220360;2220456;2220482 HIST1H2AH__7487;RH79884;UniSTS:480645;UniSTS:482788;UniSTS:483466;WI-11733 H2B/S;H2BFAiii;H2BFT;H2BK;MGC131989 H2B K;H2B histone family, member T;HIRA-interacting protein 1;OTTHUMP00000016177;histone 1, H2bk;histone H2B type 1-K;histone family member APPROVED protein-coding ENSG00000197903 13954 13658 615045 REVIEWED 1344705 HIST1H2BPS1 histone cluster 1, H2b, pseudogene 1 6 6 p22.2 26959225 26959604 - 25732012 25732391 - 100288742 ABBA01066548;AL512384;AMYH01016160;NG_027974 H2BFVP;bA317E16.4 APPROVED pseudo 18719 INFERRED 5509857 HIST1H2BPS3 histone cluster 1, H2b, pseudogene 3 13 22057973 22058313 - 100820735 ABBA01068607;AL136219;AMYH01004959;NG_030513 pseudo 42633 INFERRED 1316667 HIST1H2BL histone cluster 1, H2bl Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29381295 29381747 - 27883236 27883688 - 27775257 27775709 - 1580863;6480464;6907045 9439656;16916647;16713563;16627869;16319397;16307923;16283522;15635413;15489334;14657027;14574404;12757711;12477932;12408966;11689053;11080476;10064132;9566873;18247557;21145461;20800603;19615732;22360420;17314511;22586326;19596686;22118674;21906983;21113133;21628590;22234250;21853274;22505724 8340 Q99880 ABBA01038011;AF531295;AK312114;AL009179;AMYH01016189;BC093759;BC093761;CH471081;NM_003519;Z83740 AAN06695;ABZ92500;BAG35050;CAB06035;EAX03106;NP_003510;Q99880 Hs.137594 2219798;2220370;2220676;5492961 HIST1H2BL__6546;UniSTS:480831;UniSTS:483441;UniSTS:490240 H2B/c;H2BFC;dJ97D16.4 H2B histone family, member C;OTTHUMP00000016184;histone H2B type 1-L;histone H2B.c APPROVED protein-coding ENSG00000185130 4748 11898 602800 REVIEWED 1346747 HIST1H2BM histone cluster 1, H2bm Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29388860 29389305 + 27890801 27891246 + 27782822 27783267 + 1580863;6480464;6907045 9439656;16916647;16713563;16457587;16319397;16307923;16283522;15489334;14657027;14574404;12757711;12477932;12408966;11689053;11080476;10064132;9566873;21832049;16522924;22360420;12777385;22178446;21906983;22174317;22505724 8342 Q0D2M2;Q99879 ABBA01038011;AF531296;AL049822;AMYH01016189;BC066244;BC067485;BC067486;BC067487;BC067488;BC067489;CH471081;NM_003521;Z83738 AAH66244;AAH67485;AAH67486;AAH67487;AAH67488;AAH67489;AAN06696;CAB06033;EAX03110;NP_003512;Q99879 Hs.182432 2108141;2220412;2220420 HIST1H2BM_8793;UniSTS:481657;UniSTS:481732 H2B/e;H2BFE;dJ160A22.3 H2B histone family, member E;OTTHUMP00000016188;histone H2B type 1-M;histone H2B.e APPROVED protein-coding ENSG00000196374 4750 04154 602802 REVIEWED 1317658 HIST1H2BN histone cluster 1, H2bn Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29412400 29412930 + 27914343 27914873 + 27806440 27806888 + 1580863;6480464;6907045 9439656;16916647;16713563;16627869;16307923;16283522;16189514;15635413;15489334;14657027;14574404;12757711;12477932;12408966;11689053;11080476;10064132;9566873;20211142;21890473;21906983;20639865;21139048;21963094;21987572;22053931;22623428;23000965;23463506;22174317;22505724 8341 Q99877 ABBA01038011;AF531297;AK312228;AMYH01016189;BC009783;BC011372;BC101411;BC101412;BC101413;CH471081;NM_003520;Z83336;Z98744 AAI01412;AAI01413;AAI01414;AAN06697;ABM81954;ABM85133;BAG35161;CAB05938;EAX03114;EAX03115;EAX03116;EAX03117;NP_003511;Q99877 Hs.534368;Hs.673851 2141524;2220648;2220668;5022200;5022651 AL021849;D11S2921;L18426;UniSTS:487023;UniSTS:489748 H2B/d;H2BFD;HIST1H3I;MGC125414;MGC125415;MGC125416;MGC9388 H2B histone family, member D;OTTHUMP00000018018;histone 1, H2bn;histone H2B type 1-N;histone H2B.d APPROVED protein-coding ENSG00000233822 4749 11899 602801 REVIEWED 1343166 HIST1H2BO histone cluster 1, H2bo Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29467234 29467700 + 27969182 27969648 + 27861203 27861669 + 1580863;6480464;6907045 1768865;16916647;16713563;16627869;16319397;16307923;16283522;15635413;15489334;14657027;14574404;12757711;12477932;12408966;11689053;11080476;9566873;9439656;20085707;21890473;21906983;17620599;22863883;22505724 8348 P23527 ABBA01038011;AF531298;AMYH01016189;BC106720;CH471081;NM_003527;X57138;Z98744 AAI06721;AAN06698;ABZ92501;CAA40416;EAX03124;NP_003518;P23527 Hs.484991 2220460 UniSTS:482909 H2B.2;H2B/n;H2BFN;MGC119806;dJ193B12.2 H2B histone family, member N;OTTHUMP00000016190;histone H2B type 1-O;histone H2B.2;histone H2B.n APPROVED protein-coding ENSG00000196331 4758 11904 602808 REVIEWED 1348947 HIST1H3C histone cluster 1, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27274922 27275380 + 26153618 26154076 + 26045639 26046097 + 6480464;6907045 12408966;11882902;11791185;11689053;15282608;14657027;12842904;12477932;21164480;11242053;11080476;10975519;10759893;9566873;9439656;9119399;8227173;21167174;21907836;22118674;22407294;22505724 8352 Q6NWP9 ABBA01066552;AF531276;AMYH01016161;BC058834;BC127610;CH471087;NM_003531;U91328;X57128 AAI27611;AAI60079;AAN10053;CAA40407;EAW55514;NP_003522;P68431 Hs.248176 2107209;2220520 HIST1H3C__6551;UniSTS:483864 H3.1;H3/c;H3FC;HIST1H3A;HIST1H3B;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member C;OTTHUMP00000016133;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000196532 4768 11906 602812 REVIEWED 1345402 HIST1H3A histone cluster 1, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 p22.1 26128697 26129165 + 26020718 26021186 + 6480464;6907045 14993289;14657027;14595808;12823900;12477932;17339334;21164480;22825849;12408966;11882902;11791185;11689053;11242053;11080476;10975519;10949293;10384058;9566873;9439656;9119399;1916825;19172748;20084102;20167597;20208542;16829959;16829960;16858404;16946699;16956976;17041588;17043108;17048991;17050672;17207965;19567704;19624289;19729656;19801601;19808672;17210640;19834512;10097092;10644696;11003660;15005629;15100215;15136563;11252719;11689448;11691835;11691934;11742995;11779497;11830591;11850410;11884585;11964378;12453419;12498683;12840002;14559996;15327775;15456770;15471871;15485929;15525938;15561719;15670829;15674325;15834423;15870294;15960974;15963510;16079794;16107701;16118227;16122695;16140033;16185068;16223729;16224021;16227571;16252006;16287840;16372014;16409643;16415179;16415881;16431907;16449642;16537902;16600877;16601153;16618798;16684779;16687578;16696975;16713563;16717280;16728976;16732292;16732293;19358706;21167174;14718166;17923682;17925232;20442285;20448663;20452361;21397507;21421568;20224553;20228790;20331966;20346720;20347844;20351180;20368734;20377878;20393127;20400511;20410295;20424263;21187428;21239497;21243721;21278251;20053357;20118233;15308690;10926844;17713478;18292755;20011120;20541251;20818375;22403242;22404984;22407294;22449972;22451921;22467210;11585930;14578449;14731392;15616580;16246723;17190600;17599839;19410544;19766566;20389281;21256161;22118674;8598932;18259216;19783980;20080577;20368990;20400950;20421419;20531378;20548336;20622853;21907836;22052904;22064703;22196728;22228774;22231400;21098080;22473132;11756469;15664198;18477699;22184063;20876399;22190034;22505724 8350 Q6NWP9 ABBA01066552;AF531274;AMYH01016161;BC066245;BC066246;BC066247;BC067490;BC067491;BC069303;CH471087;CR541858;NM_003529;U91328;Z46261 AAH66245;AAH66246;AAH66247;AAH67490;AAH67491;AAH69303;AAN10051;ADQ32889;CAA86403;CAG46656;EAW55508;NP_003520;P68431 Hs.546315 1773925;1794540;2147090;2220418 PMC316937P2;RH46871;STS-Z46261;UniSTS:481684 H3/A;H3FA;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member A;OTTHUMP00000016135;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000198366 4766 04155 602810 REVIEWED 1351707 HIST1H3E histone cluster 1, H3e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27454686 27455147 + 26333362 26333823 + 26225383 26225844 + 6480464;6907045 17052464;15664198;14657027;12477932;12408966;11689053;11080476;9566873;9439656;1916825;9119399;21164480;17355966;19034380;19797895;20223770;19919681;21167174;20504901;16622419;21724829;15010469;17081972;22118674;20080577;21907836;22195966;22505724 8353 Q6NWP9 ABBA01066554;AF531278;AL031777;AMYH01016162;CH471087;CR542014;M60746;NM_003532 AAA63185;AAN10055;ABZ92502;CAG46811;EAW55547;NP_003523;P68431 Hs.443021;Hs.586261 1682744;2154018 RH69153;RH92082 H3.1;H3/d;H3FD;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member D;OTTHUMP00000016150;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000196966 4769 11907 602813 REVIEWED 1347747 HIST1H3B histone cluster 1, H3b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 p22.1 26139796 26140267 - 26031817 26032288 - 6480464;6907045 20442396;17194708;17189264;16916647;16678110;16627869;16497732;16457588;16372014;16267050;16246723;16185088;15983376;15951514;15684425;15681610;15525939;15489334;15471871;15345777;14657027;14574404;12560483;12477932;12408966;11856369;11791185;11689053;11242053;11080476;10975519;10464286;9566873;9119399;9031620;8227173;7309716;6647026;3013246;1916825;9439656;21164480;15664198;17081972;20379614;20920473;20864036;19279000;20587610;21167174;9149941;16622419;22118674;21907836;22174851;22505724 8358 Q6NWP9 ABBA01066552;AF531275;AMYH01016161;BC069133;BC096132;BC096133;BC096134;BC099630;CH471087;M26150;NM_003537;U91328;X00090 AAA52651;AAH69133;AAH96132;AAH96133;AAH96134;AAH99630;AAN10052;CAA24952;EAW55511;NP_003528;P68431 Hs.533292 1648766;2107207;2176669;2183514;2220374;2220410;2220628 HIST1H3B__7495;STS-X00089;STS-X00090;STS-Z83741;UniSTS:480870;UniSTS:481651;UniSTS:486359 H3/l;H3FL;HIST1H3A;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member L;OTTHUMP00000016132;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000124693 4776 11913 602819 REVIEWED 1348994 HIST1H3PS1 histone cluster 1, H3, pseudogene 1 6 p22.1 26322104 26322520 - 100289545;387324 ABBA01066554;AL021917;AMYH01016162;NG_029540 1698176;2175176 D6S2367;RH102624 H3F3AP1;dJ45P21.6 APPROVED pseudo ENSG00000220875 18982 INFERRED 1349026 HIST1H3D histone cluster 1, H3d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27426313 27428767 - 26304991 26307443 - 26197012 26199464 - 6480464;6907045 14702039;14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;21907836;21987572;22118674;20881960;21164480;16344560;22505724 8351 Q6NWP9 ABBA01066554;AF531277;AK316611;AL031777;AMYH01016162;BC031333;BQ051491;CH471087;DB242999;NM_003530;Z80784 AAH31333;AAN10054;ABM83721;ABM87041;BAG38198;CAB02546;EAW55539;NP_003521;P68431 Hs.532144 2107211;2138536;2141632;2165222;2220458;2220600 HIST1H3D__6552;RH66549;RH77901;SGC33007;UniSTS:482908;UniSTS:485722 H3/b;H3FB;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member B;OTTHUMP00000016149;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l;histone cluster 1, H3d APPROVED protein-coding ENSG00000197409 4767 11905 602811 REVIEWED 1346430 HIST1H3G histone cluster 1, H3g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27500453 27500919 - 26379125 26379591 - 26271146 26271612 - 6480464;6907045 16189514;14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;21164480;21167174;22118674;21907836;22505724 8355 Q6NWP9 ABBA01066554;AF531280;AL031777;AMYH01016162;BC012185;BC079835;CH471087;NM_003534;Z80785 AAN10057;ABZ92503;CAB02547;EAW55553;NP_003525;P68431 Hs.247813 2150883 RH47051 H3/h;H3FH;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member H;OTTHUMP00000016152;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000256018 4772 11909 602815 REVIEWED 1343932 HIST1H3F histone cluster 1, H3f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.2 27479677 27480142 - 26358349 26358814 - 26250370 26250835 - 6480464;6907045 20089855;20213041;21164480;10949293;11242053;11791185;16415881;17353931;14657027;12823900;12540855;12477932;12408966;11689053;11080476;10975519;9566873;9439656;9119399;1916825;16267050;21167174;18029348;21907836;22118674;22505724 8968 Q6NWP9 ABBA01066554;AF531279;AK314142;AL031777;AMYH01016162;BC062305;BC067492;BC069818;BC096131;CH471087;CR541983;CR542011;NM_021018;Z80786 AAH67492;AAH69818;AAH96131;AAN10056;BAG36832;CAB02548;CAG46780;CAG46808;EAW55551;NP_066298;P68431 Hs.247814 1655170;1676608;2108137;2131627;2220388;2220518 HIST1H2BH_8796;RH47053;RH77902;RH80097;UniSTS:481058;UniSTS:483863 H3/i;H3FI;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J H3 histone family, member I;OTTHUMP00000016151;histone 1, H3f;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000256316 4773 11910 602816 REVIEWED 1345148 HIST1H3H histone cluster 1, H3h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29383880 29384352 + 27885821 27886293 + 27777842 27778314 + 6480464;6907045 21164480;16189514;14657027;12477932;12408966;11689053;11080476;9566873;9439656;21167174;22118674;21907836;22505724 8357 Q6NWP9 ABBA01038011;AF531281;AK311991;AL009179;AMYH01016189;BC007518;BC096128;BC096129;BC096130;BC143046;BC148243;BC148250;CH471081;NM_003536;Z83735 AAH96128;AAH96129;AAH96130;AAI43047;AAI48244;AAI48251;AAN10058;ABZ92504;BAG34929;CAB06030;EAX03108;NP_003527;P68431 Hs.591778 2154436;2220676 RH47943;UniSTS:490240 FLJ92264;H3/k;H3F1K;H3FK;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3I;HIST1H3J H3 histone family, member K;OTTHUMP00000016182;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000203813 4775 11912 602818 REVIEWED 1322682 HIST1H3I histone cluster 1, H3i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29445658 29446134 - 27947602 27948078 - 27839623 27840099 - 6480464;6907045 17668447;14657027;12477932;12408966;11689053;11080476;9566873;9439656;9031620;21164480;21167174;22118674;21907836;22623428;22505724 8354 Q6NWP9 ABBA01038011;AF531282;AK313905;AMYH01016189;BC066884;BC067493;BC067494;BC069305;CH471081;NM_003533;X83550;Z98744 AAH66884;AAH67493;AAH69305;AAN10059;BAG36628;CAA58540;EAX03120;NP_003524;P68431 Hs.132854;Hs.586261 2108143;2116426;2220350;2220428;2220508 HIST1H4L_8800;RH70929;UniSTS:480462;UniSTS:481872;UniSTS:483756 H3.f;H3/f;H3FF;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3J H3 histone family, member F;OTTHUMP00000017803;histone 1, H3i;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000182572 4771 11908 602814 REVIEWED 1349112 HIST1H3J histone cluster 1, H3j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29464124 29464601 - 27966072 27966549 - 27858093 27858570 - 6480464;6907045 14657027;12477932;12408966;11689053;11080476;11076863;9566873;9439656;21164480;21167174;22118674;21907836;22505724 8356 Q6NWP9 ABBA01038011;AF531283;AMYH01016189;CH471081;NM_003535;Z83737;Z98744 AAI11922;AAN10060;ADR82713;CAB06032;EAX03122;NP_003526;P68431 Hs.484990 1851123;2106495;2220582 HIST1H3J__6558;STS-Z83737;UniSTS:485604 H3/j;H3FJ;HIST1H3A;HIST1H3B;HIST1H3C;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I H3 histone family, member J;OTTHUMP00000017804;histone 1, H3j;histone H3.1;histone H3/a;histone H3/b;histone H3/c;histone H3/d;histone H3/f;histone H3/h;histone H3/i;histone H3/j;histone H3/k;histone H3/l APPROVED protein-coding ENSG00000197153 4774 11911 602817 REVIEWED 1315697 HIST1H4A histone cluster 1, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p22.1 26129886 26130257 + 26021907 26022278 + 6480464;6907045 22493515;15864311;14657027;12628926;12477932;12408966;11689053;11310559;11080476;9710638;9566873;9439656;9119399;3035717;11818576;17339334;21145461;21164480;17148447;19862764;20129055;20167597;10097092;10644696;10958685;11003660;15005629;15009096;15136563;15145825;11387442;11689448;11691835;11691934;11742995;11779497;11830591;11884585;11964378;12121615;12140263;12704081;12840002;14559996;15456770;15485929;15525938;15561719;15670829;15674325;15832170;15834423;15911693;15933069;15933070;15963510;15964846;16085498;16107701;16226712;16227571;16252006;16287840;16415179;16522924;16537902;16618798;16696975;16717280;16844118;16917504;17043108;17048991;19393168;19818714;14718166;20452361;20224553;20347844;20351180;20368734;20377878;20385135;20393127;20410295;15308690;15664198;22863883;10926844;18512960;19928837;20000738;20618440;21800051;21969370;22100137;22379092;22406139;22407294;22449972;22467210;22498736;22615379;12639951;15601853;21110914;14578449;14731392;17190600;17599839;19596686;19766566;21726816;21778671;22118674;8647104;19783983;19847302;20080577;20368990;20622853;20972266;21693764;21907836;22145905;22174851;21098080;21628590;21668587;23077236;23084401;23106098;22174317;22505724 8359 B2R4R0;P62805 ABBA01066552;AMYH01016161;AY128654;BC066248;BC066249;BC067495;BC069654;CH471087;NM_003538;U91328;X60481 AAH66248;AAH66249;AAH67495;AAH69654;AAN01439;ABZ92505;CAA43011;EAW55509;NP_003529;P62805 Hs.248178 1680100;1773925;1794540;2147090;2219800;2220376;2220418 HIST1H4A__6559;PMC316937P2;RH46871;RH80860;STS-Z46261;UniSTS:480871;UniSTS:481684 H4/a;H4FA;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member A;OTTHUMP00000016136;histone H4 APPROVED protein-coding ENSG00000196176 4781 04157 602822 REVIEWED 1342856 HIST1H4B histone cluster 1, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27254348 27254704 - 26135103 26135459 - 26027124 26027480 - 6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;1916825;22493515;21145461;21164480;17207965;9149941;21800051;21110914;19596686;22118674;21693764;21907836;22145905;21044950;21628590;18051367;22505724 8366 B2R4R0;P62805 ABBA01066552;AMYH01016161;AY128655;BC069467;CH471087;NM_003544;U91328;X67081 AAH69467;AAN01440;ADQ32864;CAA47464;EAW55510;NP_003535;P62805 Hs.143080 1680697;2107213;2220390 HIST1H4B__6560;RH80865;UniSTS:481108 H4/I;H4FI;HIST1H4A;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member I;OTTHUMP00000016134;histone H4 APPROVED protein-coding ENSG00000124529 4789 11920 602829 REVIEWED 1347367 HIST1H4D histone cluster 1, H4d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27418239 27418605 - 26296917 26297283 - 26188938 26189304 - 6480464;6907045 22493515;15504738;14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;3035717;21145461;21164480;21800051;21110914;19596686;22118674;21693764;21907836;22145905;21628590;22505724 8360 B2R4R0;P62805 ABBA01066554;AL353759;AMYH01016162;AY128657;BC128104;BC143045;CH471087;NM_003539;X60482 AAI28105;AAI43046;AAI56843;AAN01442;CAA43012;EAW55538;NP_003530;P62805 Hs.248179 2173615;2220338;2220614 D6S2371;UniSTS:480445;UniSTS:485813 H4/b;H4FB;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;dJ221C16.9 H4 histone family, member B;OTTHUMP00000016140;histone H4 APPROVED protein-coding ENSG00000188987 4782 11914 602823 REVIEWED 1352928 HIST1H4C histone cluster 1, H4c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27333446 27333850 + 26212140 26212544 + 26104176 26104565 + 6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;7626218;15556009;21145461;21164480;20800603;20587610;20525793;21800051;21110914;21628590;19596686;22118674;21693764;21907836;22145905;20686565;18051367;22505724 8364 B2R4R0;P62805 ABBA01066552;AMYH01016162;AY128656;BC054014;BC130558;BC130560;CH471087;NM_003542;U91328;X60486 AAH54014;AAI30559;AAI30561;AAN01441;ABZ92506;CAA43016;EAW55528;NP_003533;P62805 Hs.46423 1700062;1700076;2154919 RH103644;RH103651;RH70851 H4/g;H4FG;HIST1H4A;HIST1H4B;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;dJ221C16.1 H4 histone family, member G;OTTHUMP00000016146;histone H4 APPROVED protein-coding 4787 11918 602827 REVIEWED 1316645 HIST1H4E histone cluster 1, H4e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27434175 27434551 + 26312852 26313228 + 26204873 26205249 + 6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;22493515;17267499;21145461;21164480;21800051;21110914;19596686;22118674;21693764;21907836;22145905;21628590;22505724 8367 B2R4R0;P62805 ABBA01066554;AL031777;AMYH01016162;AY128658;BC012587;BC050615;BC056868;CH471087;CR542180;CR542189;NM_003545;Z80787 AAN01443;ABZ92507;CAB02549;CAG46977;CAG46986;EAW55544;NP_003536;P62805 Hs.662174 1723331;2142920 RH118481;RH71319 H4/j;H4FJ;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member J;OTTHUMP00000016156;histone H4 APPROVED protein-coding 4790 11921 602830 REVIEWED 1349552 HIST1H4K histone cluster 1, H4k Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29404988 29405341 - 27906931 27907284 - 27798952 27799305 - 6480464;6907045 22493515;14657027;12408966;11689053;11080476;9566873;9439656;21145461;21164480;21800051;21110914;19596686;22118674;21693764;21907836;22145905;21628590;22505724 8362 B2R4R0;P62805 ABBA01038011;AK312028;AL049822;AMYH01016189;AY128664;CH471081;NM_003541;X60483 AAI48486;AAI53082;AAN01449;BAG34965;CAA43013;EAX03112;NP_003532;P62805 Hs.528055 1675945;2110451;2220342 HIST1H4K_8798;RH79842;UniSTS:480450 H4/d;H4F2iii;H4FD;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;dJ160A22.1 H4 histone family, member D;OTTHUMP00000016187;histone H4 APPROVED protein-coding ENSG00000197914 4784 11916 602825 REVIEWED 1350829 HIST1H4G histone cluster 1, H4g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27476146 27476512 - 26354818 26355184 - 26246839 26247205 - 1580863;6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;22493515;18029348 8369 Q99525 ABBA01066554;AL031777;AMYH01016162;AY128660;BC126276;BC126278;CH471087;NM_003547;Z80788 AAI26277;AAI26279;AAN01445;ADR82789;CAB02550;EAW55550;NP_003538;Q99525 Hs.553507 2126679;2220352 UniSTS:480470;UniSTS:494809 H4/l;H4FL H4 histone family, member L;OTTHUMP00000016158;histone H4-like protein type G APPROVED protein-coding 4792 11806 602832 REVIEWED 1354264 HIST1H4F histone cluster 1, H4f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27469961 27470328 + 26348633 26349000 + 26240654 26241021 + 6480464;6907045 22493515;15601853;15504738;15282608;14657027;12842904;12628926;12477932;12408966;11689053;11080476;10759893;9566873;9439656;9119399;3035717;1916825;17274598;21145461;21164480;21278419;21800051;21110914;21888893;19596686;22118674;21693764;21907836;22145905;21628590;21724829;22505724 8361 B2R4R0;P62805 ABBA01066554;AL031777;AMYH01016162;AY128659;BC069288;BC093763;BC093765;CH471087;M60749;NM_003540 AAA63188;AAH69288;AAH93763;AAH93765;AAN01444;ABM83531;ABM86771;EAW55549;NP_003531;P62805 Hs.247816 1678099;2220340;2220598 RH80279;UniSTS:480446;UniSTS:485717 H4;H4/c;H4FC;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member C;OTTHUMP00000016157;histone H4 APPROVED protein-coding 4783 11915 602824 REVIEWED 1348139 HIST1H4PS1 histone cluster 1, H4, pseudogene 1 6 6 6 p22.1 29380983 29381153 + 27882924 27883094 + 27774945 27775115 + 9439656 10337 ABBA01038011;AL009179;AMYH01016189;NG_029323;X60485 1336614;7184144;7187249 D6S105 H4FFP;dJ97D16.3;pH4/f pseudo 4786 INFERRED 1350646 HIST2H2AB histone cluster 2, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 1 1 1 q21 122975244 122975691 - 148125643 148126090 - 149859019 149859466 - 1580863;6480464;6907045 16710414;16702407;16359901;15823041;15386022;15078818;15010469;14657027;12408966;11689053;11080476;9566873;11927591;18247557;16712789;11689448;11691835;11691934;18160415;21832049;18781797;19343720;22178446;20972266;21139048;21906983;17620599;22053931;22505724 317772 Q8IUE6 ABBA01049313;AC239868;AL591493;AMYH01001373;AY131972;CH471121;NM_175065 AAI72330;AAN59958;CAI12570;EAW53603;NP_778235;Q8IUE6 Hs.664173 2126665;2220402 UniSTS:481474;UniSTS:494015 H2AB OTTHUMP00000013908;histone 2, H2ab;histone H2A type 2-B APPROVED protein-coding ENSG00000184270 20508 13659 615014 REVIEWED 1315785 HIST1H4J histone cluster 1, H4j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29397939 29398294 + 27899882 27900237 + 27791903 27792258 + 6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;6265100;21145461;21164480;21800051;21693764;21907836;21987572;22145905;21110914;19596686;22118674;21628590;22493515;22505724 8363 B2R4R0;P62805 ABBA01038011;AL049822;AMYH01016189;AY128663;BC017361;BC148271;CH471081;NM_021968;X60484 AAH17361;AAI40250;AAI46524;AAI48272;AAN01448;CAA43014;EAX03111;NP_068803;P62805 Hs.278483 1675945 RH79842 H4/e;H4F2iv;H4FE;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4;MGC166960;MGC29783;dJ160A22.2 H4 histone family, member E;OTTHUMP00000016186;histone H4 APPROVED protein-coding ENSG00000197238 4785 11917 602826 REVIEWED 1314497 HIST1H4H histone cluster 1, H4h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 27514661 27515034 - 26393333 26393706 - 26285354 26285727 - 6480464;6907045 22493515;14657027;12477932;12408966;11689053;11080476;9566873;9439656;9119399;21145461;21164480;21800051;21110914;19596686;22118674;21693764;21907836;22145905;21628590;22505724 8365 B2R4R0;P62805 ABBA01066554;AL021917;AMYH01016162;AY128661;BC010926;BC120939;CH471087;CR542169;CR542187;NM_003543;X60487 AAI20940;AAN01446;ABM83716;ABM87036;CAA43017;CAG46966;CAG46984;EAW55555;EAW55556;NP_003534;P62805 Hs.591790 1645706;2162849;2183186 AL031212;RH70852;STS-N32748 H4/h;H4FH;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member H;OTTHUMP00000016169;histone H4 APPROVED protein-coding ENSG00000158406 4788 11919 602828 REVIEWED 1344053 HIST2H2BB histone cluster 2, H2bb (pseudogene) 1 1 q21.2 120707187 120708323 + 149398799 149399179 - 6480464 12408966;20194426;21782046 338391 AC246680;AL109948;AMYH01001371;AY131976;NG_002652 histone 2, h2bb APPROVED pseudo 20654 INFERRED 1342673 HIST1H4I histone cluster 1, H4i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Jul 2008] 6 6 p21.33 27215067 27215436 + 27107088 27107457 + 6480464;6907045 22493515;17081983;16916647;16807684;16678110;15782174;15504738;15489334;14657027;14574404;12477932;12408966;11689053;11080476;10384058;10064132;9566873;9439656;9119399;9031620;8988030;7626218;6314274;3340182;3035717;21145461;21164480;2474456;1916825;17207965;21832049;16196087;21800051;18070919;21110914;19596686;22118674;21596426;21628590;21693764;21907836;22145905;17925393;22505724 8294 B2R4R0;P62805 AB000905;ABBA01037988;AL021807;AMYH01016186;AY128662;BC016336;BC066250;BC067496;BC067497;BC075806;CH471081;NM_003495 AAH66250;AAH67496;AAH67497;AAN01447;ADQ33135;BAA19208;EAX03086;NP_003486;P62805 Hs.248172 1654992;1681279 RH79884;WI-11733 H4/m;H4FM;H4M;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member M;Histone 4 family, member M;OTTHUMP00000016176;histone H4;histone family member APPROVED protein-coding 4793 09109 602833 REVIEWED 1604408 HIST2H2AA4 histone cluster 2, H2aa4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 148089252 148089785 + 149822628 149823161 + 6480464;6907045 15527963;12477932;12408966;8179821;2071153;19666485;21693764;22505724 723790 Q6FI13 ABBA01049309;AC239868;AK312163;AL591493;AMYH01001373;BC001629;BC019308;BC096705;BC096739;BC098171;CR536525;CR541872;L19779;NM_001040874 AAC24465;AAH96705;AAH96739;AAH98171;ACE86486;ACE87167;BAG35097;CAG38762;CAG46670;CAI12565;NP_001035807;Q6FI13 Hs.530461 2110453;2159519 HIST2H2AA__3118;RH69022 H2A/R;HIST2H2AA3 OTTHUMP00000013922;histone 2, H2aa4;histone H2A type 2-A;histone H2A.2;histone H2A/o;histone H2A/r;histone cluster 2, H2aa4 APPROVED protein-coding ENSG00000203812 29668 VALIDATED 1318739 HIST1H4L histone cluster 1, H4l Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29446961 29447324 - 27948905 27949268 - 27840926 27841289 - 6480464;6907045 14657027;12477932;12408966;11689053;11080476;9566873;9439656;9031620;22493515;21145461;21164480;17207965;21800051;21110914;19596686;22118674;21693764;21907836;22145905;19738201;22623428;22505724 8368 B2R4R0;P62805 ABBA01038011;AMYH01016189;AY128665;BC069392;CH471081;NM_003546;X83548;Z98744 AAH69392;AAN01450;ADQ32876;CAA58538;EAX03121;NP_003537;P62805 Hs.533295 2108143;2116426;2220350;2220508 HIST1H4L_8800;RH70929;UniSTS:480462;UniSTS:483756 H4.k;H4/k;H4FK;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST2H4A;HIST2H4B;HIST4H4 H4 histone family, member K;OTTHUMP00000017840;histone 1, H4l;histone H4 APPROVED protein-coding ENSG00000198558 4791 11922 602831 REVIEWED 1354148 HIST2H2BC histone cluster 2, H2bc (pseudogene) 1 1 1 q21.2 122556170 122556751 - 148088383 148088964 - 149821759 149822340 - 21110914;16916647;16283522;15527963;12757711;12408966;20194426;2843516 337873 Q6DN03 ABBA01049309;AC239868;AK299891;AL591493;AMYH01001373;AY131977;AY648853;AY656810;BC071638;NR_036461 AAT68256;AAT72343;BAH13163 Hs.666643 2110453;2159519 HIST2H2AA__3118;RH69022 H2B/t;HIST2H2BD APPROVED pseudo ENSG00000203819 20516 PROVISIONAL 1350930 HIST2H2BD histone cluster 2, H2bd (pseudogene) 1 1 q21.2 148081230 148081724 + 149814587 149815078 + 16916647;16283522;15527963;12757711;12408966;6326092;20194426 337874 Q6DRA6 ABBA01049309;AC239868;AL591493;AMYH01001373;AY131978;AY648853;NG_001226 Q6DRA6 2110453;2159519 HIST2H2AA__3118;RH69022 H2B/o;H2B/s;H2BFO APPROVED pseudo 20517 INFERRED 1354031 HIST2H3B histone cluster 2, H3b q21.2 6480464 12408966;12888554 333931 AF531306;NG_002616 HIST2H3PS1 pseudo 20504 INFERRED 1316194 HIST2H2AA3 histone cluster 2, H2aa3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 148080409 148080942 - 149813785 149814318 - 6480464;6907045 16710414;16702407;16457589;16359901;16319397;15823041;15635413;15527963;15489334;15386022;15078818;15010469;14759373;14657027;12477932;12408966;11689053;11375490;11181995;11080476;9566873;9439656;8858345;8543049;8179821;6326092;2071153;12628926;19615732;16159877;18688256;21832049;21443952;21726816;21772249;20525793;21041483;21179169;21693764;21987572;14992727;16322561;20599239;22505724;22980979 8337 Q6FI13 ABBA01049309;AC239868;AK312163;AL591493;AMYH01001373;AY131971;BC001629;BC019308;BC096705;BC096739;BC098171;CH878687;CR536525;CR541872;K01889;L19779;NM_003516 AAA35945;AAC24465;AAH96705;AAH96739;AAH98171;AAI52788;AAN59957;BAG35097;CAG38762;CAG46670;CAI12562;EAW50859;NP_003507;Q6FI13 Hs.530461;Hs.741531 2110453;2159519;2172456 HIST2H2AA__3118;RH69022;SHGC-36240 H2A;H2A.2;H2A/O;H2A/q;H2AFO;H2a-615;HIST2H2AA;HIST2H2AA4 H2A histone family, member O;OTTHUMP00000014042;histone 2, H2aa3;histone 2, h2aa;histone H2A type 2-A;histone H2A.2;histone H2A/o APPROVED protein-coding 4736 08851 142720 REVIEWED 1604125 HIST2H3D histone cluster 2, H3d 1 1 q21.2 148051450 148051860 - 149784780 149785236 - 6480464;6907045 17353931;21489993;18029348;22118674;21628590;22505724 653604 Q71DI3 AC239868;AL591493;AMYH01001373;NG_033089;NM_001123375 CAI12559;NP_001116847;Q71DI3 Hs.712062 2115331 RH66497 HIST2H3A;HIST2H3C OTTHUMP00000013917;histone 2, H3d;histone H3.2;histone H3/m;histone H3/o protein-coding ENSG00000183598 25311 VALIDATED 1353344 HIST2H2AC histone cluster 2, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. [provided by RefSeq, Jul 2008] 1 1 q21.2 148125149 148125585 + 149858525 149858961 + 1580863;6480464;6907045 21633354;19385636;18593899;18206972;16710414;16702407;16473935;16457589;16359901;16319397;15823041;15527963;15489334;15386022;15078818;15010469;14657027;12786946;12628926;12477932;12408966;12072557;11689053;11080476;10096020;9566873;18247557;19015238;21278419;21746879;9439656;1469070;9447982;11927591;17687327;16714294;17179179;19203578;11073993;19500350;19667409;16107701;16252006;16415179;16601700;16618798;16696975;16996029;17048991;17707232;20838438;15136563;15456770;15670829;15674325;15870294;15963510;18404153;2843516;1989977;23207902;20224553;20332121;20347844;20351251;20368734;20377878;21596310;15308690;16622419;14993289;19928837;20080676;20122409;20541997;21041483;21969370;22081970;22467210;22492721;22742833;21139048;21693764;21906983;22616001;14578449;14759373;20436459;20639865;21081666;21183687;21443952;21726816;21772249;8598932;21706008;16710298;22334663;9427644;16096645;19916563;20599239;22505724 8338 Q16777 ABBA01049312;AC239868;AL591493;AMYH01001373;AY131973;AY648852;BC060324;CH471121;NM_003517;X57985 AAH60324;AAN59959;AAT68255;ABZ92508;CAA41050;CAI12569;EAW53604;NP_003508;Q16777 Hs.408067 1735866 D1S1921E H2A;H2A-GL101;H2A/q;H2AFQ;MGC74460 H2A histone family, member Q;OTTHUMP00000033967;histone 2, H2ac;histone H2A type 2-C;histone H2A-GL101;histone H2A/q;histone IIa APPROVED protein-coding ENSG00000184260 4738 09107 602797 REVIEWED 1345343 HIST2H2BA histone cluster 2, H2ba (pseudogene) 1 1 p12-p11.2 120699046 120707905 + 120906034 120914842 + 12477932;12408966;20194426;14992727;16322561 337875 AC244453;AL357493;AMYH01000981;AY131975;BC106916;BC126904;NR_027337 Hs.742189 MGC126029;MGC126031 APPROVED pseudo 20560 PROVISIONAL 1343213 HIST2H2BE histone cluster 2, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Jul 2008] 1 1 q21.2 148122634 148124856 - 149856010 149858232 - 1580863;6480464;6907045 1469070;17353931;19425504;18682386;18206972;17074886;16916647;16713563;16710414;16627869;16457587;16307923;16283522;15635413;15601853;15489334;15019208;14702039;14657027;12888554;12860195;12786946;12757711;12628926;12489984;12477932;12408966;11859126;11824786;11689053;11375490;11310559;11266453;11241673;11080476;10821277;10022855;9973324;9973250;9748265;9724719;9710638;9651585;9566873;9325046;8620898;8180162;1993178;18206970;17274598;18247557;19015238;21145461;21278419;21319273;21746879;8576261;17938195;19410543;17179179;20936779;20224553;20332121;20347844;20368734;20377878;17207965;15009096;15136563;15456770;15546622;15674325;16107701;16252006;16415179;16522924;16601700;16618798;16696975;16996029;19015240;20086098;17403666;17573780;17687327;21739721;12686141;15308690;17000644;18688256;14993289;18292755;20122409;21041483;14578449;14731392;15010469;18274552;21827756;21183687;21633354;21994445;8647104;21706008;21969370;22081970;22658722;22742833;22592529;21439383;21443952;21726816;22118674;21906983;21907836;21963094;20473970;21628590;22615809;21041410;16096645;19940129;20599239;21853274;22174317;22421545 8349 Q16778 ABBA01049312;AC239868;AK093747;AK289725;AL591493;AMYH01001373;AY131979;BC005827;BC069193;BC096121;BC098112;BC098289;BC107084;BC107085;CH471121;CR541895;M60756;NM_003528;X57985 AAA63192;AAH05827;AAH69193;AAH96121;AAH98112;AAH98289;AAI07085;AAI07086;AAN59961;ADQ32024;BAF82414;CAA41051;CAG46693;CAI12568;EAW53605;NP_003519;Q16778 Hs.2178 1735866;1847683;2106497;2126665;2178362;2220392;2220402;2220458 Cda0ab09;D1S1921E;HIST2H2BE_4100;UniSTS:481137;UniSTS:481474;UniSTS:482908;UniSTS:494015;WI-7732 GL105;H2B;H2B.1;H2BFQ;H2BGL105;H2BQ;MGC119802;MGC119804;MGC129733;MGC129734 H2B histone family, member Q;OTTHUMP00000013920;histone H2B type 2-E;histone H2B-GL105;histone H2B.q APPROVED protein-coding ENSG00000184678 4760 03494 601831 REVIEWED 1342896 HIST2H3A histone cluster 2, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 148090805 148091311 + 149824181 149824687 + 6480464;6907045 19250906;19250903;18840606;18712172;17950276;17353931;17194708;17189264;16916647;16829960;16829959;16710414;16678110;16627869;16497732;16267050;16185088;15684425;15681610;15527963;15525939;15489334;15471871;15345777;12560483;12489984;12477932;12408966;11856369;11242053;10523658;10464286;21489993;7309716;6494913;3013246;11336697;17704213;12015309;11959841;12590135;12786946;12888554;12427740;14985713;15339660;17320160;17320161;17468742;19747413;19801601;18077460;2843516;21252943;22118674;21628590;22505724 333932 Q71DI3 ABBA01049309;AC239868;AF531305;AL591493;AMYH01001373;AY648851;BC015544;BC074969;BC130635;BC130637;NM_001005464 AAH74969;AAI30636;AAI30638;AAT68254;CAI12566;NP_001005464;Q71DI3 Hs.647745;Hs.706618 2110453;2159519;2220438 HIST2H2AA__3118;RH69022;UniSTS:482157 H3/n;H3/o;HIST2H3C;HIST2H3D OTTHUMP00000013919;histone 2, H3a;histone H3.2;histone H3/m;histone H3/o APPROVED protein-coding 20505 13626 REVIEWED 1603451 HIST2H2BF histone cluster 2, H2bf Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2B family and is found in a histone cluster on chromosome 1. [provided by RefSeq, Jan 2013] 1 1 q21.2 148048739 148050535 - 149754245 149783928 - 6907045;6480464 16916647;16713563;16710414;16344560;16319397;16307923;16283522;15489334;14702039;12757711;12477932;21906983;22174317;22505724 440689 B4DR52;Q5QNW6 AC239868;AC243772;AK092418;AK289664;AK296916;AK299108;AL591493;AMYH01001373;BC110793;DA042901;NG_033089;NM_001024599;NM_001161334 AAI10794;BAC03883;BAF82353;BAG59471;BAG61164;CAI12558;NP_001019770;NP_001154806;Q5QNW6 Hs.632451 1742053 GDB:190043 FLJ35099;FLJ56780;FLJ56787;MGC131639 OTTHUMP00000013918;histone 2, H2bf;histone H2B type 2-F protein-coding ENSG00000203814 24700 18639 REVIEWED 1343698 HIST3H2BA histone cluster 3, H2ba, pseudogene 1 1 1 q42.13 201841812 201842190 - 226718540 226718918 - 228651917 228652295 - 6480464 12408966;20210993 337872 ABBA01005837;AL139288;AMYH01001794;AY131980;NG_002618 1671997 SHGC-76453 APPROVED pseudo 20515 INFERRED 1346198 HIST2H4A histone cluster 2, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 148070845 148071240 + 149804221 149804616 + 6480464;6907045 19234465;15823041;15527963;15345777;14993289;14657027;14595808;12861021;12628926;12556504;21145461;21164480;12477932;12408966;11790298;11689053;11163245;11080476;10096020;9566873;9439656;9325046;8814229;7675449;6494913;6314274;3035717;11799066;10022855;10926844;11498536;12072557;12489984;14578449;14731392;15010469;15664198;16782091;16917504;17190600;17540172;18026117;18082152;18500820;9651585;17179179;2843516;17426288;17687327;15161933;19596686;20855524;21800051;21994445;8598932;17620599;21110914;21443952;22195965;21628590;21693764;21907836;22052904;22145905;9427644;16096645;22505724 8370 B2R4R0;P62805 ABBA01049309;AC239868;AF525682;AL591493;AMYH01001373;BC019846;BC093969;BC108260;BC112193;CR542172;M16707;NM_003548;X00038 AAA52652;AAH93969;AAI12194;AAI46449;AAI53064;AAM83108;CAA24918;CAG46969;CAI12560;NP_003539;P62805 Hs.55468;Hs.655235 2115331;2169126;2220604 D1S3163;RH66497;UniSTS:485772 FO108;H4;H4/n;H4F2;H4FN;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4;HIST2H4B;HIST4H4 H4 histone family, member N;H4 histone, family 2;histone 2, H4a;histone 2, h4;histone H4;histone IV, family 2 APPROVED protein-coding 4794 11821 142750 REVIEWED 1605451 HIST2H4B histone cluster 2, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008] 1 1 q21 148098954 148099349 - 149832330 149832725 - 6480464;6907045 21145461;21164480;21110914;3035717;10220385;15933069;17540172;17666011;15504738;16166375;16131487;15823041;15527963;12556504;12477932;12408966;6494913;14585971;18408754;18474616;19862764;9540062;19596686;21693764;21800051;21907836;22118674;22145905;21628590;18029348;22505724;19249677 554313 B2R4R0;P62805 ABBA01049309;AC239868;AL591493;AMYH01001373;BC019846;BC093969;BC108260;BC112193;CR542172;NM_001034077 AAH93969;AAI12194;ADR82736;ADR83444;CAG46969;CAI12567;NP_001029249;P62805 Hs.55468;Hs.655235;Hs.706635 1771226;2115331;2169126;2220604;5124235 D1S3163;RH66497;RH93503;SHGC-57126;UniSTS:485772 H4/o;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST4H4 histone 2, H4b;histone H4 APPROVED protein-coding 29607 REVIEWED 1347918 HIVE1 human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 3095 4919 1349967 HIST2H3C histone cluster 2, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008] 1 1 q21.2 148078883 148079389 - 149812259 149812765 - 1580863;6480464;6907045 16710414;19411844;19363025;19041150;18452652;17353931;17194708;17189264;16916647;11080476;10464286;10384058;9566873;9439656;8814229;7309716;6494913;3013246;12482968;12419249;16678110;16627869;16497732;16362057;16267050;16189514;16185088;15684425;15681610;15527963;15525939;15489334;15471871;15345777;14657027;12628926;12560483;12477932;12408966;11856369;11689053;11509556;11242053;11818576;17274598;21251613;21278419;21489993;11073993;16415881;17938195;18082152;18381289;18500820;19187766;19818718;20581860;17179179;18059471;18066052;18079182;18404153;18451879;18533182;15269344;16959795;19483677;17643117;17643371;17687327;17687328;22100450;15010469;21443952;21633354;21726816;22118674;22195965;22231400;22247551;21495674;21575637;21628590;21658950;21666677;21666679;21668587;21678921;21689637;21704408;21720545;21724829;21725360;22334663;22837395;19061644;22081016;22100137;22266653;22294699;22373577;22379092;22379099;22387026;16096645;20929775;22505724;23022729 126961 Q71DI3 ABBA01049309;AC239868;AF531307;AL591493;AMYH01001373;BC015544;BC074969;BC130635;BC130637;NM_021059 AAH74969;AAI30636;AAI30638;AAI48479;AAI53075;AAN39283;CAI12561;NP_066403;Q71DI3 Hs.647745;Hs.706618 2110453;2159519;2220438 HIST2H2AA__3118;RH69022;UniSTS:482157 H3;H3.2;H3/M;H3F2;H3FM;H3FN;HIST2H3A;HIST2H3D;MGC9629 H3 histone family, member M;H3 histone, family 2;OTTHUMP00000014041;histone H3.2;histone H3/m;histone H3/o APPROVED protein-coding 20503 11822 142780 REVIEWED 1603452 HIST2H3PS2 histone cluster 2, H3, pseudogene 2 1 1 q21.2 147665464 147667166 - 149400086 149400542 - 6480464 17194708;17189264;16916647;16710414;16678110;16627869;16497732;16267050;16185088;15684425;15681610;15527963;15525939;15489334;15471871;15345777;12560483;12477932;12408966;11856369;11242053;10464286;7309716;21782046 440686 Q5TEC6 AC246680;AL109948;AMYH01001371;NG_012783 CAI23568 MGC126031;p06 pseudo 32060 INFERRED 1320935 HIST3H2A histone cluster 3, H2a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201834960 201835455 - 226711688 226712183 - 228645065 228645560 - 6480464;6907045 12786946;16710414;16702407;16359901;16189514;15823041;15489334;15386022;15078818;15010469;14657027;12477932;12408966;11689053;11080476;9566873;11336697;19666485;21906983;22606318;22505724 92815 Q7L7L0 ABBA01005836;AK311930;AL139288;AMYH01001794;AY131974;BC001193;BC082269;CH471098;NM_033445 AAN59960;BAG34871;EAW69878;NP_254280;Q7L7L0 Hs.26331;Hs.732533 1669267;1699276;2106499;2220400;2220450 HIST3H2BB__6568;RH103220;RH68905;UniSTS:481460;UniSTS:482609 MGC3165 OTTHUMP00000037948;histone 3, H2a;histone H2A type 3 APPROVED protein-coding ENSG00000181218 20507 13660 615015 REVIEWED 1346703 HIST4H4 histone cluster 4, H4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Jul 2008] 12 12 p12.3 14814921 14815332 - 14923654 14924065 - 6480464;6907045 18974389;18684714;18408754;18319261;18001726;17848202;17666011;17548343;17540172;17522015;16782888;16531610;16469925;16322686;16177192;16131487;15933069;15664198;15527963;15504738;15345777;15095300;15010469;14731392;14657027;14578449;12786946;12489984;12477932;12408966;12385581;12072557;11689053;11498536;11266453;11080476;10926844;10022855;9651585;9566873;3035717;11336697;12015309;11959841;12590135;15992539;15864311;15834423;15710329;15019994;15546622;15765097;15469825;8647104;15688037;15688035;15616580;15502823;14595808;15674325;18247557;18418072;21145461;21164480;21110914;11163245;12840145;18671804;19348949;19438744;19536143;19578722;19667075;19747413;19805290;19818714;20512922;15306854;18079182;21385873;18285460;18404153;20949922;20953179;17264152;21478274;23048028;21724829;16622419;20122409;21800051;22360506;21628590;22234250;21499270;21693764;21907836;22145905;22228774;22247551;19596686;20639865;21081666;21596310;22118674;20943666;21090589;14992727;16322561;21806967;19249677;19805454;21282530;22623428;22894908;23075851;23449627;23460923;19380743;21973049;22505724 121504 B2R4R0;P62805 ABBA01067884;AC010168;AMYH01004303;AY128653;AY648850;BC020884;CH471094;NM_175054 AAN01438;AAT68253;EAW96325;NP_778224;P62805 Hs.745457 2160559 G41309 H4/p;HIST1H4A;HIST1H4B;HIST1H4C;HIST1H4D;HIST1H4E;HIST1H4F;HIST1H4H;HIST1H4I;HIST1H4J;HIST1H4K;HIST1H4L;HIST2H4A;HIST2H4B;MGC24116 OTTHUMP00000239323;histone H4 APPROVED protein-coding 20510 13662 615069 REVIEWED 734342 HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012] 6 6 6 q23-q24 143813124 144006743 - 143114297 143308031 - 143072604 143266338 - 1580863;6480464 2022670;2247438;16344560;14574404;12477932;10642512;10207097;8889549;1733857;1409593;19615732;20936779;17549794;21890473;21906983;22294689;12173742 3097 P31629;Q38G99 AA041301;AA465317;ABBA01025756;ABBA01025757;AF153836;AK226163;AK296531;AL023584;AL355304;AL355307;AMYH01016720;AW197846;BC032679;CH471051;CR936782;DA216380;DQ231041;M60119;M61744;NM_006734;X65644 AAA36202;AAB88218;AAF81365;AAI67801;ABB16331;BAG59161;CAA46596;EAW47873;NP_006725;P31629 Hs.510172 1336970;1671369;1703602;1706552;1723605;1770273;1795976;2114363;2127224;2133303;2172089;2180183;5107215 D6S1055;D6S970;G31022;G31050;G66161;HIVEP2_982;RH119728;RH1537;RH78408;SHGC-12723;SHGC-78688;SHGC-81252;WI-19236 HIV-EP2;MBP-2;MIBP1;SHN2;ZAS2;ZNF40B MHC binding protein-2;MHC-binding protein 2;OTTHUMP00000017321;OTTHUMP00000017322;Schnurri-2;c-myc intron binding protein 1;c-myc intron-binding protein 1;human immunodeficiency virus type 1 enhancer-binding protein 2;human immunodeficiency virus type I enhancer-binding protein 2;transcription factor HIVEP2 APPROVED protein-coding ENSG00000010818 4921 00881 143054 REVIEWED 736425 HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011] 6 6 p24-p22.3 12120710 12273218 + 12012724 12165232 + 1580863;6480464 19732766;2106471;16713569;16582099;15302935;15231748;12477932;8289330;7650680;2504707;2248949;2108316;2037300;1727488;1694016;1567844;16169070;20936779;19615732;20226436;20734064;16196087;21078624;21890473;21903422;21906983;21963094;22488850 3096 C9J2N3;C9JAW2;C9JLG1;C9JZF8;C9JZV1;F5H212;H7BYU7;P15822 ABBA01022110;ABBA01022111;ABBA01022112;AK294338;AL137221;AL157373;AL391828;AMYH01016087;AY673640;BC028111;BC140816;CA430819;CH471087;J05011;M32019;NM_002114;X51435;Z98050 AAA17533;AAA17534;AAI40817;AAV85766;BAG57608;CAA35798;EAW55309;EAW55310;EAW55311;EAW55312;NP_002105;P15822 Hs.567284 1671954;1683209;1768058;1795974;2121536;2132695;2156632;2174592;5022578;5024761;5037552;5093386 A009N36;D1S1423;D8S2279;G32688;HIVEP1_1282;RH35684;RH36905;RH93878;STS-AA036730;STS-X51435;WI-17879;WI-18783 CIRIP;CRYBP1;MBP-1;PRDII-BF1;Schnurri-1;ZAS1;ZNF40;ZNF40A GAAP;HIV-EP1;OTTHUMP00000016036;Zinc finger protein 40 (Human immunodeficiency virus type I enhancer-binding protein 1) (HIV-EP1) (Major histocompatibility complex binding protein 1) (MBP-1) (Positive regulatory domain II binding factor 1) (PRDII-BF1);cirhin interaction protein;gate keeper of apoptosis-activating protein;major histocompatibility complex binding protein 1;major histocompatibility complex-binding protein 1;positive regulatory domain II binding factor 1;positive regulatory domain II-binding factor 1;zinc finger protein 40 APPROVED protein-coding ENSG00000095951 4920 01925 194540 VALIDATED 1351995 HK2P1 hexokinase 2 pseudogene 1 X X X q21.1 80065052 80070664 - 79713675 79717197 - 79824925 79830537 - 6480464 7999069;7590357 642546 ABBA01049124;AL512504;AMYH01022642;NG_009860;U28387 1678889;1744305 GDB:451610;RH65294 HK2P APPROVED pseudo 4924 INFERRED 1312718 HIST3H2BB histone cluster 3, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008] 1 1 q42.13 226712431 226712882 + 228645808 228646259 + 1580863;6480464;6907045 21362549;18958350;16916647;16878981;16713563;16710414;16627869;16319397;16307923;16283522;15489334;15010469;14731392;14702039;14657027;12757711;12477932;12408966;11689053;11080476;10469656;9566873;11336697;10405893;8647104;14595808;18247557;15749019;19834552;19906922;16622419;19471022;21139048;21693764;21906983;21846774;22174317;22505724 128312 Q8N257 ABBA01005836;AK091220;AL139288;AMYH01001794;AY131981;BC100855;BC100856;BC100857;BC100858;BC137467;BC137468;CH471098;NM_175055 AAI00856;AAI00857;AAI00858;AAI00859;AAI37468;AAI37469;AAN59962;BAC03613;EAW69879;NP_778225;Q8N257 Hs.376691 1669267;1699276;1768285;1851858;2106499;2220400;2220450;5015619;5016478;5020946;5022578;5022649;5037552 D11S2875;D11S3114;D1S1423;D8S2279;G30966;GDB:434012;HIST3H2BB__6568;L17971;RH103220;RH68905;SHGC-76465;UniSTS:481460;UniSTS:482609 H2Bb H2B type 12;OTTHUMP00000037947;histone H2B type 3-B APPROVED protein-coding ENSG00000196890 20514 13661 615046 REVIEWED 1317808 HIST3H3 histone cluster 3, H3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Jul 2008] 1 1 q42 226679169 226679649 - 228612546 228613026 - 1580863;6480464;6907045 12540855;12514135;12489984;12477932;12408966;12389038;12372304;12123582;11959841;11864602;11850410;11824786;11779497;11689053;11602260;11310559;11266453;11163245;11080476;10926844;10911985;10523658;10469656;10436156;10022855;9748265;9710638;17537733;17567753;18439419;18418385;18281699;18048344;17320048;16710414;16354694;16127177;15922600;15782174;15664198;15635413;15620353;15489334;15235609;14993289;14718166;14657027;14633678;14594813;12789342;12786946;12773393;12577067;9566873;9439656;9325046;8986613;8980232;8834248;8798650;3697355;15611041;12482968;15019994;15546622;15345777;15469825;15674330;15619633;14595808;15680324;15494311;9651585;18247557;20593489;22853951;20498094;16166375;16858404;17157298;17540172;17643117;17761849;19585526;16226712;20948546;20448663;15306854;17242207;20588255;20665636;23063713;20841431;21193919;20953179;21368055;22978410;22818287;17277772;15856011;19357306;23541084;23523318;12700765;19596686;20974918;21030982;21047797;21078963;21081666;21977994;22099308;18029348;20122409;20855524;21124902;21135039;21172665;21273441;18662994;21738951;22606318;22615488;22619169;22626555;8375396;9716497;22360506;22371497;22228774;20639865;20663916;21554500;21596310;22178446;21906983;22012064;19783980;19783983;21499270;15601853;17320162;21917293;20943666;21151131;21190999;21055984;23463506;23541585;17884155;20953165;20972266;21282530;21890473;21963094;21987572;22623428;22713874;22749909;23000965;23452851;23460923;22984491;23084401;23161542;23281010;14992727;16322561;18276832;22100450;22922742;16362057;17225856;20603326;21029866;22505724;22713676;23285239 8290 Q16695 ABBA01005836;AF531308;AK312217;AL139288;AMYH01001794;BC069079;BC101837;BC101839;CH471098;CR542013;NM_003493;Z49861 AAH69079;AAI01838;AAI01840;AAN39284;BAG35150;CAA90020;CAG46810;EAW69877;NP_003484;Q16695 Hs.248171 2107215;2220384;2220642 HIST3H3__6569;UniSTS:481043;UniSTS:486967 H3.4;H3/g;H3FT;H3t;MGC126886;MGC126888 H3 histone family, member T;H3/t;OTTHUMP00000037945;histone 3, H3;histone H3.1t APPROVED protein-coding ENSG00000168148 4778 04156 602820 REVIEWED 1322610 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] 1 1 p34 41748271 42156782 - 41972036 42501596 - 6480464 11804591;15790681;17388942;16344560;15627499;14999091;14707112;14702039;12477932;11161801;10997877;2247438;19913121;20628086;20379614;20732416;21189157;11329013;21524353;23500015;16196087;16728642;23178823 59269 Q5T1R4;Q99302 AB046775;ABBA01023141;ABBA01023142;ABBA01023143;ABBA01023144;ABBA01023145;ABBA01023146;ABBA01023147;AC105268;AC119676;AF278765;AF278766;AI082114;AI246631;AK122991;AL158216;AL356455;AL445933;AL451006;AMYH01000545;AMYH01000546;AMYH01000547;AMYH01000548;BC015242;BC040942;BC046120;BC062792;BC080552;BC152563;BG213993;CH471059;DA093318;M61743;NG_030026;NM_001127714;NM_024503;NR_038260;NR_038261 AAA36137;AAI52564;AAI72754;AAK01082;BAB13381;BAG53838;EAX07173;NP_001121186;NP_078779;Q5T1R4 Hs.403972;Hs.648369 1335501;1652106;1660530;1662300;1696142;1703432;1716357;1727749;1728409;1732898;1739577;1759437;1762129;1762477;1762545;1762913;1763139;1763153;1763155;1763553;1766297;1768801;1779790;1783084;1851209;1852299;2134809;2143507;2164209;2169915;2177999 AL009341;AL009403;D1S1313;D1S2645;D1S294E;D1S62;G19138;G63140;G63638;RH121356;RH64488;RH64713;RH79040;SHGC-146029;SHGC-146299;SHGC-146358;SHGC-146668;SHGC-146871;SHGC-146886;SHGC-146887;SHGC-147255;SHGC-149648;SHGC-150717;SHGC-153762;SHGC-154594;SHGC-33246;SHGC-68810;SHGC-74654;SHGC-74661;SHGC-74665;SHGC-79081 FLJ16752;KBP-1;KBP1;KIAA1555;KRC;SHN3;Schnurri-3;ZAS3;ZNF40C OTTHUMP00000007073;OTTHUMP00000007074;ZAS family, member 3;human immunodeficiency virus type I enhancer-binding protein 3;kappa-B and V(D)J recombination signal sequences-binding protein;kappa-binding protein 1;kappabinding protein-1;transcription factor HIVEP3;zinc finger protein ZAS3 APPROVED protein-coding ENSG00000127124 13561 09442 606649 REVIEWED 2292108 HJURP Holliday junction recognition protein 2 2 2 q37.1 228465901 228483632 - 234410225 234427951 - 234745486 234763212 - 6480464 19410545;17823411;16622419;12477932;16169070;20211017;18029348;19410544;20080577;21478274;23184928;21768289;21980305;20360068;21890473;21906983;21321101;22406139;22505724 55355 C9JWC4;F8WCV1;H7C0I6;H7C3V8;Q8NCD3 AB101211;AB162218;ABBA01001951;AC005538;AK074809;AK301643;AK303109;AL162048;AMYH01011581;BC001940;BE535238;BM148072;BM475244;BQ225710;CA441903;CH471063;NM_018410 AAH01940;BAC11221;BAD36741;BAF82039;BAG63122;BAG64216;CAB82391;EAW71064;EAW71065;NP_060880;Q8NCD3 Hs.532968 1667849;1802084;1802200;1802692;1802744;1804086;1804214;1804718;1805292;1806282;1806838;1806976;1814440;1818172;1818316;1820080;1820306;1823828;1823884;1825930;1830018;1840176;1842740;1843760;1949566;1949568;1949570;1949572;1949574;1949576;1949578;1949580;1949582;1949584;1949586;1949588;1949590;1949592;1949594;1949596;1949598;1949600;1949602;1949604;1949606;1949608;1949610;1949612;1949614;1949616;1949618;1949620;1949622;1949624;1949626;1949628;1949630;1949632;1949634;1949636;1949638;1949640;1949642;1949644;1949646;1949648;1949650;1949652;1949654;1949656;1949658;1949660;1949662;1949664;1949666;1949668;1949670;1949672;1949674;1949676;1949678;1949680;1949682;1949684;1949686;1949688;1949690;1949692;1949694;1949696;1949698;1949700;1949702;1949704;1949706;1949708;1949710;1949712;1949714;1949716;1949718;1949720;1949722;1949724;1949726;2201492;2201494;2201496;2201498;2201500;2201502;2201504;2201506;2201508;2201510;2201512;2201514;2201516;2201518;2201520;5037552 D8S2279;ECD01923;ECD01983;ECD02233;ECD02259;ECD02960;ECD03029;ECD03291;ECD03592;ECD04096;ECD04384;ECD04453;ECD08249;ECD10143;ECD10215;ECD11113;ECD11228;ECD13006;ECD13035;ECD14074;ECD16142;ECD21272;ECD22577;ECD23091;REN45631;REN45632;REN45633;REN45634;REN45635;REN45636;REN45637;REN45638;REN45639;REN45640;REN45641;REN45642;REN45643;REN45644;REN45645;REN45646;REN45647;REN45648;REN45649;REN45650;REN45651;REN45652;REN45653;REN45654;REN45655;REN45656;REN45657;REN45658;REN45659;REN45660;REN45661;REN45662;REN45663;REN45664;REN45665;REN45666;REN45667;REN45668;REN45669;REN45670;REN45671;REN45672;REN45673;REN45674;REN45675;REN45676;REN45677;REN45678;REN45679;REN45680;REN45681;REN45682;REN45683;REN45684;REN45685;REN45686;REN45687;REN45688;REN45689;REN45690;REN45691;REN45692;REN45693;REN45694;REN45695;REN45696;REN45697;REN45698;REN45699;REN45700;REN45701;REN45702;REN45703;REN45704;REN45705;REN45706;REN45707;REN45708;REN45709;REN45710;REN45711;SHGC-33393;stSG620195;stSG620196;stSG620197;stSG620198;stSG620199;stSG620200;stSG620201;stSG620202;stSG620203;stSG620204;stSG620205;stSG620206;stSG620207;stSG620208;stSG620209 DKFZp762E1312;FAKTS;URLC9;hFLEG1 14-3-3-associated AKT substrate;Holliday junction recognition protein;OTTHUMP00000065202;OTTHUMP00000065203;fetal liver expressing gene 1;fetal liver-expressing gene 1 protein;up-regulated in lung cancer 9 protein-coding ENSG00000123485 25444 612667 VALIDATED 6481390 HLA-AS1 HLA antisense RNA 1 100873924 AL445423 APPROVED miscrna 42509 736939 HK3 hexokinase 3 (white cell) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009] 5 5 q35.2 176240476 176258921 - 176307870 176326333 - 1580863;1300048;2302784;6480464;6907045 9540816 7150652;19554504;12543931;12488461;12477932;11068878;9468341;8941369;8812439;8717435;4058069;1190733;22498738;19448621;20877624;21072205;17868400 3101 H0Y8U9;H0Y9N6;H0YAG4;P52790 AB208951;ABBA01033478;AC027318;AMYH01015865;BC028129;BX644742;CH471195;L37749;NM_002115;U42303;U51333 AAB03512;AAC50422;AAC50732;AAH28129;ABM82004;ABM85186;BAD92188;EAW85047;EAW85048;EAW85049;NP_002106;P52790 Hs.411695 1705604;1785794;1848726;2128095;5024541;5491788 D1S3688;HK3;SHGC-83912;SHGC-85528;STS-R17757;WI-21074 HKIII;HXK3 ATP:D-hexose 6-phosphotransferase;HK III;OTTHUMP00000161447;hexokinase 3;hexokinase type III;hexokinase-3 APPROVED protein-coding ENSG00000160883 4925 00806 142570 REVIEWED 1354446 HKDC1 hexokinase domain containing 1 10 10 10 q22.1 64255904 64303168 + 70650065 70697321 + 70980059 71027315 + 6480464;6907045 14702039;12477932;16385451;18029348;20379614;20732627;20800603;21906983;22632162 80201 B3KT70;Q2TB90 ABBA01019603;ABBA01019604;ABBA01019605;ABBA01019606;AK026414;AK095086;AK291024;AK303408;AL596223;AMYH01002806;BC012337;BC021278;BC069201;BC110504;BC110505;BX538078;CH471083;NM_025130 AAH12337;AAH21278;AAI10505;AAI10506;ADZ15969;BAB15478;BAF83713;BAG52982;BAG64461;CAD98002;EAW54317;EAW54318;NP_079406;Q2TB90 Hs.522988 1342058;1662939;1685409;1722293;2137650 D10S1672;D10S2178;G60060;RH91478;WI-11727 FLJ22761;FLJ37767;MGC125688 OTTHUMP00000019718;hexokinase domain-containing protein 1;putative hexokinase HKDC1 protein-coding ENSG00000156510 23302 08006 VALIDATED 737450 HK1 hexokinase 1 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009] 10 10 q22 70699762 70831641 + 71029756 71161638 + 1601527;1601519;1300048;2302804;2302784;2302851;6480464;6484113;6907045;7240710 131232;7655856;8255543;9540816;4353083 9493266;3207429;19651813;19554504;19165527;19096518;19049977;19034380;18308720;18212354;17494625;17080299;16344560;16169070;16166083;15489334;15164054;14702039;12477932;12432216;12393545;10978502;10686099;10574795;10356311;9735292;9531504;9450953;9414310;9028305;8722688;8720117;8706938;8420959;6848140;2297576;2059200;1985912;1637300;1572668;20732627;20139978;16385451;18029348;19536174;19608687;19862010;20347420;20379614;20562859;20858683;20877624;22863883;22990118;21179577;20186120;21781351;22586326;18781797;21139048;21890473;21906983;22018957;21832049;23068103;21319273;23164509;22304920;23000965;23222517;16027165;21853274 3098 A8K7J7;B1AR61;B1AR62;B1AR63;B3KXY9;E7ENR4;P78542;Q59FD4;Q9NNZ5 AB209526;ABBA01019606;ABBA01019607;AC016821;AF016349;AF016365;AF029305;AF029306;AF073786;AF163908;AF163909;AF163910;AF163911;AF163912;AF163913;AK091267;AK128226;AK292012;AK294428;AK309904;AL596223;AL672126;AMYH01002806;BC008730;BX406321;CH471083;DB088955;M75126;NG_012077;NM_000188;NM_033496;NM_033497;NM_033498;NM_033500;U38226;U38227;U38228;X66957 AAA52646;AAB40527;AAB40528;AAB40529;AAC00172;AAC00173;AAC15862;AAC15863;AAC25424;AAF82319;AAF82320;AAH08730;ABM84207;ABM87761;BAD92763;BAF84701;BAG52321;BAG54651;BAG57673;CAA47379;EAW54319;EAW54320;EAW54321;EAW54322;EAW54323;NP_000179;NP_277031;NP_277032;NP_277033;NP_277035;P19367 Hs.370365 1658326;1671646;1679189;1741671;1779508;2109389;2120588 GDB:181720;HK1__6571;RH80106;SHGC-153484;SHGC-35892;STS-M75126;STS-W37533 HK1-ta;HK1-tb;HK1-tc;HKD;HKI;HMSNR;HXK1 HK I;OTTHUMP00000019725;brain form hexokinase;glycolytic enzyme;hexokinase type I;hexokinase-1 APPROVED protein-coding ENSG00000156515 4922 00809 142600;235700;605285 REVIEWED 1344548 HKR1 HKR1, GLI-Kruppel zinc finger family member 19 19 19 q13.12 34626297 34656067 + 42517420 42547197 + 37825580 37855357 + 1580863;6480464 2850480;15489334;14702039;12477932;9813242;8812445;8125298 284459 F5H6A5;K7EJS1;K7EL05;K7EL22;K7EL36;K7EM51;K7EME6;K7EMG8;K7EMJ9;K7ENA5;K7EPW3;K7EQG8;K7ERA5;K7ES32;P10072;Q7Z6E1 AB013897;ABBA01040620;ABBA01040621;ABBA01040622;ABBA01040623;AC008806;AC016590;AK056243;AK128116;AK223616;AK299969;AK301601;AK307852;AMYH01009767;BC004513;BC010024;BC017256;BC053845;CH471126;M20675;NM_181786 AAH04513;AAH17256;AAH53845;BAA86058;BAD97336;BAG51656;BAG61795;BAG63089;EAW56721;EAW56722;EAW56723;EAW56724;EAW56725;EAW56726;NP_861451;P10072 Hs.657027;Hs.729090 2182735;5017655;5022578;5024039;5037552 D16S325;D1S1423;D8S2279;HKR1;RH15944 ZNF875 GLI-Kruppel family member HKR1;Krueppel-related zinc finger protein 1;oncogene HKR1;zinc finger protein 875 APPROVED protein-coding ENSG00000181666 4928 01314 165250 PROVISIONAL 733090 HK2 hexokinase 2 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009] 2 2 p13 74913290 74973989 + 75059782 75120481 + 1580863;1624365;632917;1300048;2302784;2313227;2313229;6480464;6484113;6907045 16555472;7622509;9540816;11319725;7813813 8786021;9278438;19579598;19558793;19554504;19049977;19033437;18772588;18579725;18535403;18271924;17785433;16713569;16551620;16396496;16189514;15967114;15710218;15489334;14747281;14672622;12663490;12477932;11688991;11068878;9447955;9056853;8889548;8567628;8307259;8250948;7883123;7883122;7883120;7518342;23500080;19003546;19681047;19723875;19770592;20159966;20346347;20347420;20846459;16712791;20453422;18350175;20845004;20845477;20877624;20958264;21242296;16751776;23185017;22863883;22825642;22939629;21411499;22354042;21726646;21909686;22087292;21279699;22230325;21252943;19322201;22398711;22593586;20972266;21139048;21906983;22334075;23123787;23349798;22469988;22901702;22623428;23000965;23071593;22174317;22691140 3099 E9PB90;P52789 ABBA01075615;ABBA01075616;AC019069;AC104135;AF086198;AF148513;AI085541;AI278414;AK290357;AMYH01010455;AMYH01010456;AW134604;AY623118;BC021116;BC064369;BM706373;BM912287;CB160837;CH471053;CR749202;D25412;HB877664;HC935073;NM_000189;Z46354;Z46360 AAD30174;AAH21116;AAH64369;AAT38114;AAX93084;AAY24209;ABM86696;ABW03812;BAA04999;BAF83046;CAA86476;CAA86482;CAH18060;CBF63160;CBU88036;EAW99601;EAW99602;EAW99603;NP_000180;P52789 Hs.406266;Hs.591588 1678889;1713273;1743147;1744305;1745655;1771702;2109391;2144483 D2S2601;GDB:271353;GDB:451610;GDB:631172;HK2_8401;RH120627;RH65294;SHGC-57291 DKFZp686M1669;HKII;HXK2 HK II;OTTHUMP00000160433;OTTHUMP00000202738;hexokinase type II;hexokinase-2;hexokinase-2, muscle;muscle form hexokinase APPROVED protein-coding ENSG00000159399 4923 03080 601125 REVIEWED 1349444 HLA-A major histocompatibility complex, class I, A HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008] 6 6 p21.3 30018310 30021633 + 29910247 29913661 + 1580863;6480464;6484113;6907045;7240710 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AAA03602;AAA03603;AAA03604;AAA03605;AAA03662;AAA03683;AAA03720;AAA17012;AAA17889;AAA35991;AAA36227;AAA36234;AAA52656;AAA59598;AAA59599;AAA59600;AAA59602;AAA59603;AAA59604;AAA59606;AAA59611;AAA59613;AAA59615;AAA59636;AAA59637;AAA59652;AAA59653;AAA59655;AAA59838;AAA59839;AAA73518;AAA76607;AAA76608;AAA76609;AAA80238;AAA80569;AAA84994;AAA87076;AAA87570;AAA87571;AAA87572;AAA98118;AAA98727;AAB05976;AAB08574;AAB16923;AAB17465;AAB38491;AAB41292;AAB47873;AAB48494;AAB48628;AAB53373;AAB59614;AAB60406;AAB63980;AAB66582;AAB66704;AAB70187;AAB70188;AAB70275;AAB70276;AAB70277;AAB70278;AAB70279;AAB82079;AAB82080;AAB82081;AAB82082;AAB87059;AAB92589;AAC04322;AAC24825;AAC72736;AAD02067;AAD05568;AAD05569;AAD19593;AAD32673;AAD33859;AAD38679;AAD38680;AAD38681;AAD38682;AAD39980;AAF24937;AAF25781;AAF25960;AAF28734;AAF70298;AAF74211;AAG27625;AAG27626;AAG27627;AAG30922;AAH03069;AAH08611;AAH19236;AAK66558;AAK71476;AAK82978;AAL32021;AAL55399;AAL84893;AAM77796;AAM95704;AAN01238;AAN01239;AAN01240;AAN01241;AAN01242;AAO20853;AAO20854;AAO43992;AAP74975;AAP88042;AAQ24372;AAQ64634;AAR19361;AAR99592;AAR99593;AAS87370;AAT35595;AAT35596;AAT35597;AAT35598;AAT41623;AAT41624;AAT41625;AAT44889;AAT44890;AAT68270;AAV53343;AAV53344;AAV53345;AAW22618;AAW30165;AAW30168;AAW57895;AAW73085;AAX07135;AAX14022;AAX18627;AAX18628;AAX51797;AAX94767;AAX94768;AAY85375;ABA29233;ABA29234;ABA29235;ABA29236;ABC55710;ABC55711;ABC55712;ABC55713;ABC55714;ABC59610;ABC59611;ABC59612;ABC70993;ABD75333;ABD75334;ABE27973;ABE27974;ABF18977;ABF18978;ABF29706;ABF47209;ABF54961;ABF58773;ABF58774;ABF58775;ABF58776;ABF67610;ABF71073;ABF71714;ABF93214;ABG43097;ABG43098;ABG54312;ABG79047;ABG91056;ABI31649;ABI34469;ABI64161;ABK41349;ABK56694;ABK60080;ABK97607;ABL09832;ABM53023;ABM82686;ABN45878;ABP01670;ABR08289;ABS18723;ABV66222;ABW03423;ABW38319;ABW70165;ABY21173;ACA35004;ACG49999;ACI15742;ACJ71678;ACN89842;ACN89846;ACN91039;ACS12755;ACU02151;ACU46618;ACV89431;ADE18745;ADE73117;ADI24356;ADI24376;AFH41801;BAA03279;BAA03280;BAA03282;BAA04117;BAA04118;BAA04119;BAA05549;BAA06855;BAA06856;BAA06857;BAA07530;BAA08783;BAA09049;BAA11635;BAA11935;BAA11936;BAA20881;BAA84642;BAA84643;BAA84644;BAB13367;BAB63400;BAB71760;BAC01135;BAC02737;BAC02897;BAC54917;BAC86217;BAD00981;BAD12776;BAD12841;BAD15076;BAD19045;BAD20194;BAD20210;BAD20285;BAD20462;BAD20463;BAD20748;BAD23959;BAD24849;BAD27480;BAD29714;BAD30023;BAD30024;BAD36737;BAD36754;BAD77818;BAD77941;BAD77942;BAD77943;BAD92354;BAD95617;BAD95618;BAD98466;BAD98468;BAD98499;BAD99518;BAE48521;BAE48522;BAE48523;BAE48524;BAE78472;BAE78473;BAE78474;BAE78598;BAE79443;BAE87033;BAE93145;BAE95333;BAF46251;BAG12800;BAG15909;BAG35940;BAG58845;BAG62631;BAG62636;BAG62841;BAG65286;BAH11159;BAH14566;CAA04209;CAA04643;CAA04647;CAA06807;CAA10037;CAA11708;CAA25162;CAA26297;CAA31503;CAA31504;CAA39243;CAA41022;CAA42702;CAA43869;CAA43872;CAA43873;CAA43880;CAA57654;CAA62745;CAA65442;CAA65501;CAA66389;CAA69599;CAA70419;CAA71701;CAA72245;CAA73072;CAA73073;CAA73473;CAA73716;CAA76574;CAA76575;CAA80612;CAA81644;CAA86602;CAA96532;CAA96533;CAB07989;CAB09723;CAB10671;CAB38056;CAB38057;CAB41636;CAB41888;CAB41999;CAB42000;CAB42826;CAB42827;CAB43622;CAB56605;CAB56606;CAB56609;CAB56838;CAB57318;CAB59722;CAB62907;CAB64340;CAB65736;CAB65737;CAB65738;CAB66898;CAB71333;CAB75703;CAB91544;CAB91545;CAB92284;CAB93537;CAB95730;CAB96870;CAB96998;CAC00689;CAC06086;CAC06087;CAC06088;CAC27119;CAC27120;CAC27240;CAC27241;CAC27416;CAC27518;CAC36395;CAC37336;CAC44381;CAC44382;CAC88116;CAD20188;CAD22452;CAD23134;CAD24477;CAD26948;CAD26949;CAD30042;CAD30043;CAD44568;CAD44640;CAD44643;CAD45178;CAD45434;CAD45435;CAD48116;CAD48117;CAD58883;CAD58884;CAD60933;CAD61024;CAD61025;CAD61338;CAD61339;CAD61340;CAD61341;CAD61867;CAD66670;CAD66671;CAD66672;CAD66673;CAD66674;CAD66675;CAD79469;CAD79470;CAD87771;CAD87772;CAD92641;CAD97419;CAE00637;CAE01416;CAE22481;CAE22482;CAE22483;CAE45179;CAE45340;CAE46395;CAE46481;CAE46482;CAE47424;CAE53175;CAE54950;CAE54951;CAE84855;CAF03603;CAF06506;CAF18417;CAF25145;CAF33344;CAF33597;CAF33598;CAG17585;CAG23922;CAG23945;CAG24006;CAG27087;CAG28694;CAG30519;CAG38621;CAH25490;CAH59953;CAH59954;CAI26292;CAI29454;CAI34859;CAI39219;CAI45286;CAI47569;CAI48026;CAI48028;CAI48029;CAI64374;CAI68021;CAI84068;CAI96181;CAI99175;CAJ01785;CAJ09236;CAJ13640;CAJ18328;CAJ20746;CAJ21008;CAJ21345;CAJ26353;CAJ28360;CAJ32464;CAJ34946;CAJ43230;CAJ43432;CAJ44108;CAJ66086;CAJ66087;CAJ70622;CAJ70623;CAJ70701;CAJ84549;CAJ84550;CAK02800;CAK29511;CAK54969;CAL15397;CAL18290;CAL29421;CAL34150;CAL59585;CAM12702;CAM28531;CAN85194;CAP20082;CBM43069;CBW44123;EAX03240;EAX03241;EAX03242;EAX03243;EAX03244;EAX03245;EAX03246;NP_001229687;NP_002107;P01891;P01892;P04439;P05534;P10314;P10316;P13746;P16189;P18462;P30443;P30447;P30450;P30453;P30455;P30456;P30457;P30512;Q09160;XP_003960084;XP_003960085;XP_003960086;XP_003960087;XP_003960088;XP_003960089;XP_003960090;XP_003960091;XP_003960092;XP_003960093;XP_003960094 Hs.181244;Hs.713441 1661993;1676158;1681923;1770879;1786134;1786138;1794508;5019399;5020447;5024339;5126851 D6S1105E;PMC155279P1;PMC165225P1;PMC316580P5;RH66830;RH70531;RH80274;RH80801;SHGC-172558;SHGC-172574;WI-12714 Aw-68;Aw-69;FLJ26655;HLAA HLA class I histocompatibility antigen, A-1 alpha chain;HLA class I histocompatibility antigen, A-10 alpha chain;HLA class I histocompatibility antigen, A-23 alpha chain;HLA class I histocompatibility antigen, A-24 alpha chain;HLA class I histocompatibility antigen, A-25 alpha chain;HLA class I histocompatibility antigen, A-26 alpha chain;HLA class I histocompatibility antigen, A-28 alpha chain;HLA class I histocompatibility antigen, A-29 alpha chain;HLA class I histocompatibility antigen, A-31 alpha chain;HLA class I histocompatibility antigen, A-34 alpha chain;HLA class I histocompatibility antigen, A-36 alpha chain;HLA class I histocompatibility antigen, A-43 alpha chain;HLA class I histocompatibility antigen, A-66 alpha chain;HLA class I histocompatibility antigen, A-80 alpha chain;HLA class I histocompatibility antigen, A-9 alpha chain;MHC class I antigen A*1;MHC class I antigen A*11;MHC class I antigen A*2;MHC class I antigen A*23;MHC class I antigen A*24;MHC class I antigen A*25;MHC class I antigen A*26;MHC class I antigen A*29;MHC class I antigen A*3;MHC class I antigen A*31;MHC class I antigen A*32;MHC class I antigen A*34;MHC class I antigen A*36;MHC class I antigen A*43;MHC class I antigen A*66;MHC class I antigen A*68;MHC class I antigen A*69;MHC class I antigen A*80;MHC class I antigen HLA-A heavy chain;MHC leukocyte antigen;OTTHUMP00000161059;OTTHUMP00000161060;antigen presenting molecule;aw-19;aw-24;aw-34;aw-36;aw-43;aw-66;aw-80;leucocyte antigen A;leucocyte antigen class I;leukocyte antigen class I-A 1643399 BMD5_H APPROVED protein-coding ENSG00000206503 4931 00826 142800;608579 REVIEWED 1346716 HLA-DMA major histocompatibility complex, class II, DM alpha HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 p21.3 33024373 33028831 - 32916391 32920899 - 1582700;1580863;6480464;6907045 10375868 22309257;22498736;7602119;3489470;10729169;12427289;8168144;7541827;2846691;2543930;7512597;1978941;1967269;1869305;8376762;10631952;11048639;11827988;15489916;17652306;19115949;18779172;18348411;17015729;16864101;16737583;16435885;15723810;15547089;15547082;14754527;12928384;12858445;12794545;12786997;12742663;12728471;12663675;12648225;12477932;12392850;11956296;11881821;11775239;11743588;11739502;11441095;11337467;11180452;11168931;11118314;11070170;10716924;10661406;10322421;9879837;9768757;9759843;9551909;9371817;9311912;8947036;8890155;8849454;8574855;8568858;8225438;8139690;8034636;8026867;1922385;1922365;8084338;9079699;19913121;20408893;20628086;19851445;20237496;23260142;21059907;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026 3108 A2AAT8;B0UYV8;B0UYV9;B0UYW0;F6S093;H0Y732;P28067;Q31604;Q5SP00;Q6ICR9 AA649861;ABBA01038136;AK291858;AL645941;AL662845;AL935042;AMYH01016239;AU100342;BC011447;BC026279;BX088556;BX908719;CH471081;CR450324;CR752645;CR759798;CR936913;NG_012006;NM_006120;U04877;U04878;X62744;X76775;X87344 AAA56993;AAA56994;AAH11447;AAH26279;ABM83765;ABM87085;BAF84547;CAA44606;CAA54169;CAA54170;CAA60781;CAG29320;EAX03658;EAX03659;EAX03660;NP_006111;P28067 Hs.728759 1774130;2106361 D6S1868;D6S2763 D6S222E;DMA;HLADM;RING6 HLA class II histocompatibility antigen, DM alpha chain;MHC class II antigen DMA;OTTHUMP00000029242;OTTHUMP00000178727;OTTHUMP00000178728;OTTHUMP00000178729;class II histocompatibility antigen, M alpha chain;really interesting new gene 6 protein APPROVED protein-coding ENSG00000204257 4934 00830 142855 REVIEWED 1344682 HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) 6 6 p21.32 33167508 33173050 - 33059259 33061091 - 6597088;21841780 646702 ABBA01038137;AL645931;AL662824;AL845446;AMYH01016240;BX120009;CR759795;CR759904;CR762479;CR847849;NG_009861;X01634 1756461;2106387;2161067 D6S2738;RH69064;SHGC-143467 HLA-DP2A pseudo 4939 INFERRED 1343149 HLA-C major histocompatibility complex, class I, C HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008] 6 6 p21.3 31344508 31347834 - 31236526 31239913 - 1580863;6480464;6907045;7240710 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Hs.656020;Hs.743218;Hs.77961 1337397;1337640;1338684;1735588;1772765;1774403;1792836;1852219;2166083;5020447;5114847 D6S1019;D6S1053;D6S1281;D6S2071;HUM000C210;HUM00TB019;PMC165225P2;RH70531;STS-M80468;WIAF-1551;stD6S1124E.1 D6S204;FLJ27082;HLA-Cw;HLA-Cw12;HLA-JY3;HLC-C;PSORS1 HLA class I antigen;HLA class I heavy chain;HLA class I histocompatibility antigen, C alpha chain;HLA class I histocompatibility antigen, Cw-1 alpha chain;HLA class I histocompatibility antigen, Cw-12 alpha chain;HLA class I histocompatibility antigen, Cw-14 alpha chain;HLA class I histocompatibility antigen, Cw-16 alpha chain;HLA class I histocompatibility antigen, Cw-17 alpha chain;HLA class I histocompatibility antigen, Cw-2 alpha chain;HLA class I histocompatibility antigen, Cw-4 alpha chain;HLA class I histocompatibility antigen, Cw-6 alpha chain;HLA class I histocompatibility antigen, Cw-7 alpha chain;HLA class I histocompatibility antigen, Cw-8 alpha chain;HLA-C (Cw*1201);HLA-Cw*050x;MHC class 1 antigen, alpha chain;MHC class I HLA-C;MHC class I HLA-Cw*0803;MHC class I antigen Cw*1;MHC class I antigen Cw*12;MHC class I antigen Cw*14;MHC class I antigen Cw*16;MHC class I antigen Cw*17;MHC class I antigen Cw*2;MHC class I antigen Cw*3;MHC class I antigen Cw*4;MHC class I antigen Cw*6;MHC class I antigen Cw*7;MHC class I antigen Cw*8;MHC class I antigen HLA-C;MHC class I antigen heavy chain HLA-C;MHC class I protein HLA-C heavy chain;OTTHUMP00000029213;OTTHUMP00000165154;OTTHUMP00000165155;class I MHC antigen HLA-B heavy chain;human leukocyte antigen-C alpha chain;leucocyte antigen C;leucocyte antigen Cw;leukocyte antigen-C alpha chain;major histocompatibility antigen HLA-C APPROVED protein-coding ENSG00000204525 4933 00829 142840;177900;609423 REVIEWED 1348324 HLA-DPA3 major histocompatibility complex, class II, DP alpha 3 (pseudogene) 6 6 p21.3 34653341 34653487 - 33098974 33099120 - 6480464 10452889 267013 ABBA01038137;AL031228;AL645940;AL662824;AL845446;AMYH01016240;BX120009;CR759733;CR847849;CT009497;NG_011547 dJ1033B10.14 pseudo 19393 INFERRED 1349438 HLA-DMB major histocompatibility complex, class II, DM beta HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 p21.3 33010393 33016795 - 32902406 32908847 - 1582700;1580863;6480464;6907045 10375868 8406617;8225438;8139690;8034636;7648393;7528727;1922365;8084338;9079699;8376762;7602119;3489470;10729169;12427289;8168144;7541827;2846691;2543930;7512597;1978941;1967269;1869305;11048639;11827988;15489916;17652306;19047092;18779172;18506881;18348411;17015729;16864101;16737583;16335952;15787724;15547089;15547082;15489334;14754527;12932352;12858445;12786997;12742663;12663675;12648225;12477932;12392850;11956296;11881821;11775239;11743588;11591653;11441095;11168931;11118314;10885572;10716924;10661406;10631952;10519369;10322421;10209506;9879837;9768757;9759843;9551909;9371817;9311912;9157091;8947036;8920889;8890155;8849454;8757605;8574855;8568858;19913121;20408893;20628086;19767569;19851445;20038641;20237496;23260142;21622867;22309257;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026 3109 B0S7V1;E9PD01;H0Y4B8;H0Y7A2;P28068 AB209577;AB362554;AB362555;AB362556;ABBA01038135;ABBA01038136;AF004827;AF072680;AF134890;AK295872;AK315979;AL645941;AL662845;AL935042;AMYH01016239;AY645722;AY972536;BC017508;BC027175;BC035650;BX088556;BX927138;CD742571;CH471081;CR407606;CR752645;CR759798;CR936913;DC389968;EL948395;NM_002118;U00700;U15085;U16762;U31743;U32663;X76776;X87344;Z23139 AAA03296;AAB60387;AAB61609;AAC26112;AAC50514;AAC50515;AAC50517;AAD30279;AAH27175;AAV97947;AAX84974;ABM82067;ABM85246;BAD92814;BAF81534;BAF81535;BAF81536;BAG58670;BAH14350;CAA54171;CAA60782;CAA80670;CAG28534;EAX03657;NP_002109;P28068 Hs.351279 1647627;1756801;1757105;1770569;1794504 D6S2091;PMC316580P3;RH12803;SHGC-143932;SHGC-144492 D6S221E;RING7 HLA class II histocompatibility antigen, DM beta chain;MHC class II HLA-DMB;MHC class II antigen DMB;MHC class II antigen HLA-DM beta chain;OTTHUMP00000029257;OTTHUMP00000178732;class II histocompatibility antigen, M beta chain;really interesting new gene 7 protein APPROVED protein-coding ENSG00000242574 4935 00831 142856 REVIEWED 1346079 HLA-DOB major histocompatibility complex, class II, DO beta HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 p21.3 32888518 32892803 - 32780540 32784825 - 1580863;6480464;6907045 2998758;8890155;11048639;11827988;15489916;17652306;15847654;15730525;15489334;15265882;12477932;12445321;12439622;11823510;11118314;10661406;9311912;9088974;8568858;8458375;3036827;2499532;1453454;8084338;9079699;8376762;7602119;3489470;10729169;12427289;8168144;7541827;2846691;2543930;7512597;1978941;1967269;1869305;9759843;19851445;20237496;20379614;23400868;22446962;23222639;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026;23266558 3112 E9PI00;H0Y4X4;P13765;Q5QNS2 AB035249;ABBA01038131;ABBA01038132;AK301415;AK316197;AL669918;AL671681;AMYH01016239;AY645723;BC006097;BC020226;BM152694;BQ010608;BX296564;CH471081;CR541811;CR541832;CR762476;CR788227;CT009502;L29472;M26040;NG_009793;NG_012008;NM_002120;X03066;X66401;X87344 AAA59717;AAA59718;AAH06097;AAV97948;BAH13478;BAH14568;CAA26870;CAA47028;CAA60789;CAG46610;CAG46631;EAX03638;EAX03639;EAX03640;EAX03641;NP_002111;P13765 Hs.1802 1648969;2156461;2217426;5022767 D6S2093;DOB;ELA-DOB;HLA-DOB_3383 DOB;FLJ57033 HLA class II histocompatibility antigen, DO beta chain;MHC class II antigen DOB;OTTHUMP00000029312 APPROVED protein-coding ENSG00000241106 4937 08368 600629 REVIEWED 1342704 HLA-DOA major histocompatibility complex, class II, DO alpha HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008] 6 6 p21.3 33079937 33085367 - 32971959 32977389 - 1580863;6480464;6907045 7512597;3000765;11048639;11827988;15489916;17652306;18639552;16806233;16101837;15847654;15817706;15489334;15265882;14574404;12477932;12439622;11118314;10661406;10323340;9311912;9088974;8890155;2991382;2499532;2370084;1999352;8084338;9079699;8376762;7602119;3489470;10729169;12427289;8168144;7541827;2846691;2543930;1978941;1967269;1869305;19913121;20628086;19458622;19741715;19851445;20237496;21059907;21804548;22733780;23222639;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026;22139419 3111 B4DW77;F6WU08;Q9TQD0 AB005991;AB005992;AB005993;AB005994;AB005995;AB005996;AB005997;AB005998;ABBA01038137;AJ420585;AK290714;AK301404;AK310153;AK313551;AL645931;AL662845;AL805913;AMYH01016239;AY947479;AY947480;AY947481;AY947482;BC013183;BX005422;CH471081;CR759795;CR759829;CR936909;M26039;M29335;M31525;M38054;M38056;NG_012007;NM_002119;X02882;Z81310 AAA35992;AAA36253;AAA59716;AAA60075;AAH13183;AAX49509;AAX49510;AAX49511;AAX49512;ABM81974;ABM85152;BAA81787;BAA81788;BAA81789;BAA81790;BAA81791;BAA81792;BAA81793;BAA81794;BAF83403;BAG36327;BAG62939;CAA26635;CAB03594;CAC70064;EAX03667;EAX03668;NP_002110;P06340 Hs.631991 1772249;1797686;1852117;2171693;2171695;2182997;2190307;5015619;5022649;5037552;5122666 A006I10;CGCb066;D11S2875;D11S3114;D6S1939;D8S2279;G20835;HLA-DOA_2011;RH46819;RH66832;WI-18569 HLA-DNA;HLA-DZA;HLADZ HLA class II histocompatibility antigen, DO alpha chain;HLA-D0-alpha;MHC DN-alpha;MHC DZ alpha;MHC class II antigen DOA;OTTHUMP00000029303;lymphocyte antigen;major histocompatibility complex, class II, DN alpha APPROVED protein-coding ENSG00000204252 4936 00837 142930 REVIEWED 1350878 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) 6 6 6 p21.3 34634661 34651257 + 33188271 33204868 + 33080293 33096890 + 6480464 18682748;12477932;3036829;20587610;19950302;20031603;21399633;23482656 3116 ABBA01038137;AK301188;AL645931;AL645940;AL662824;AL845446;AMYH01016240;BC017967;BX120009;CR759733;CR759795;CR847849;CR936877;CT009497;M23909;M23910;M23911;NR_001435 BAG62770 Hs.665450 1788438 fd13c04.x1 DP2B;DPB2;DPbeta2;HLA-DP2B pseudo ENSG00000224557 4941 PROVISIONAL 1350485 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010] 6 6 p21.3 32817141 32823199 + 32709163 32714664 + 1580863;6907045 7512597;15489916;17652306;19116923;18668548;18065200;12477932;11535811;11376336;11118314;10661406;9036956;8026991;6584734;6300884;3610256;3372263;2513578;1612647;1362295;10729169;8084338;12427289;8168144;7541827;2846691;2543930;9079699;8376762;7602119;3489470;3036828;11048639;11827988;1978941;1967269;1869305;22693455;20711174;20587610;17554300;19851445;20159242;20237496;23257407;20305777;20596022;21408207;22125590;21059907;22096524;21804548;22075330;22493691;22407913;21102463;23053960;23146381;23266558;23284291;23349640;23382691;23472185;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026 3118 P01906 ABBA01038131;AL672104;AL713890;AL773543;AMYH01016239;BX248406;BX927131;BX927160;BX927168;CR753846;CR759848;CR936921;K00513;M17237;M29614;M29615;M34997;M76219;NM_020056;X00453;Z84490 AAA35772;AAA36249;AAA59605;AAA59761;AAA59834;CAA25142;CAB06493;NP_064440;P01906 Hs.591798 1686242;2127947 RH46692;RH79899 DX-ALPHA;HLA-DXA DX alpha chain;HLA class II histocompatibility antigen, DQ alpha 2 chain;HLA class II histocompatibility antigen, DQ(6) alpha chain;HLA-DQA1;MHC class II DQA2;OTTHUMP00000029144 APPROVED protein-coding 4943 09982 613503 REVIEWED 1344963 HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 p21.3 1580863 3372263;2571586;2495625;1529427 3121 Q29783 M35000 AAA35774 D6S205;D6S205E;DQB3;DVB;DVbeta;HLA-DVB major histocompatibility complex, class II, DQ beta 3 protein-coding 4946 1605730 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] 6 6 p21.3 33140772 33149356 - 33032346 33048555 - 6480651;6480648;6480649;6480464;6907045 7576003;12073072;8854084 2461352;11048639;11827988;15489916;17652306;19349983;19200828;19143818;19143812;18784467;18593440;17785583;17234427;17060025;16465617;16098233;16042197;15713216;15663751;15603877;15304007;15191952;15121303;15041165;12956878;12910711;12899833;12778461;12707403;12580031;12477932;12445315;11777970;11556979;11118314;11019928;10958363;10661406;10090623;9694359;9366419;8773319;8649448;8454872;7912458;7725312;6584734;6325928;6300884;3266023;3036829;2997750;2987832;2578218;10729169;8084338;9079699;8376762;7602119;3489470;12427289;8168144;7541827;2846691;2543930;7512597;1978941;1967269;1869305;8568247;19913121;20595243;20628086;20668555;16242130;19589487;19722042;19795399;19851445;19896518;20237496;20376809;20424227;20462405;20470845;22923493;21399633;15342556;8889548;21402545;21274863;21814517;21346778;21059907;22448225;21750111;21779181;22105689;22496224;22737229;23326374;23180272;23428460;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026 3113 F6V115;H0Y6F8;J3KQ99;Q2Q061 AB209058;ABBA01038137;AF013767;AF015295;AF074847;AF074848;AF076284;AF076285;AF092049;AF098794;AF165160;AF346471;AK292709;AL645931;AL662824;AL805913;AMYH01016240;AY335522;AY335523;AY335524;AY335525;AY335526;AY335527;AY335528;AY335529;AY335530;AY335531;AY335532;AY335533;AY335534;AY335535;AY335536;AY335537;AY335538;AY335539;AY335540;AY335541;AY335542;AY335543;AY335544;AY375760;AY375761;AY375762;AY375763;AY375764;AY375765;AY375766;AY375767;AY375768;AY375769;AY375770;AY375771;AY375775;AY375780;AY375781;AY375787;AY375791;AY375827;AY375828;AY375829;AY375830;AY375831;AY375832;AY375833;AY375834;AY375835;AY375836;AY375837;AY375838;AY375839;AY375840;AY603382;AY603383;AY603384;AY603385;AY603386;AY618552;AY618553;AY650051;BC009956;BI553587;BP338039;BU687966;BX005422;BX120009;CD516536;CH471081;CR759795;CR759829;CR759904;CR762479;CR847849;DQ274060;DQ274061;K00514;M23903;M23904;M27487;NG_033241;NM_001242524;NM_001242525;NM_033554;U87556;X00457;X02228;X03100;X78199;X82393;X82394 AAA59786;AAA63220;AAB97110;AAC61669;AAC64233;AAC72845;AAD39684;AAD39685;AAD42927;AAD42928;AAD47826;AAF00051;AAH09956;AAK27152;AAQ84179;AAQ84180;AAQ84181;AAQ84182;AAQ84183;AAQ84184;AAQ84185;AAQ84186;AAQ84187;AAQ84188;AAQ84189;AAQ84190;AAQ84191;AAQ84192;AAQ84193;AAQ84194;AAQ84195;AAQ84196;AAQ84197;AAQ84198;AAQ84199;AAQ84200;AAQ84201;AAQ84202;AAQ84203;AAQ84204;AAQ84205;AAQ84206;AAQ84207;AAQ84208;AAQ84209;AAR01827;AAR01829;AAR01831;AAR01833;AAR01835;AAR01837;AAR01839;AAR01841;AAR01843;AAR01845;AAR01847;AAR01849;AAR01851;AAR01853;AAR01855;AAR01857;AAR01859;AAR01861;AAR01863;AAR01865;AAR01867;AAR01869;AAR01871;AAT39912;AAT39913;AAT39914;AAT39915;AAT39916;AAT67468;AAT92096;AAT92097;ABB88406;ABB88407;ABM84389;ABM87323;BAD92295;BAF85398;CAA25143;CAA26148;CAA26887;EAX03669;EAX03670;EAX03671;NP_001229453;NP_001229454;NP_291032;P20036 Hs.347270 1694498;2181674 RH121960;RH46610 DP(W3);DP(W4);HLA-DP1A;HLADP;HLASB;PLT1 DP(W3);DP(W4);HLA class II histocompatibility antigen, DP alpha 1 chain;HLA class II histocompatibility antigen, DP alpha chain;HLA-SB alpha chain;MHC class II DP3-alpha;MHC class II DPA1;MHC class II HLA-DPA1 antigen;MHC class II antigen;OTTHUMP00000029066;OTTHUMP00000029067;OTTHUMP00000178770;Primed lymphocyte test-1 APPROVED protein-coding ENSG00000231389 4938 00835 142880 REVIEWED 1352836 HLA-B major histocompatibility complex, class I, B HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008] 6 6 p21.3 31429628 31432914 - 31321649 31324989 - 1580863;6480464;6907045;7240710 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Hs.654404;Hs.77961 1735588;1772765;1774403;1792836;1794510;2127860;2151314;2166083;5019399;5117254;5126851;7183786;7188001 D6S1895;D6S2071;D6S276;D6S281;GDB:454124;HUM00TB019;PMC155279P1;PMC165225P1;PMC165225P2;PMC316580P6;STS-X55711;WIAF-1551;stD6S1124E.1 AS;Bw-45;Bw-48;Bw-56;Bw-58;HLA-B-5601;HLA-B-6701;HLA-B-7301;HLA-B27;HLA-B73;HLA-C;HLAB;HLAC;MGC111087;SPDA1 HLA class I histocompatibility antigen, B alpha chain;HLA class I histocompatibility antigen, B-12 alpha chain;HLA class I histocompatibility antigen, B-21 alpha chain;HLA class I histocompatibility antigen, B-45 alpha chain;HLA class I histocompatibility antigen, B-48 alpha chain;HLA class I histocompatibility antigen, B-5 alpha chain;HLA class I histocompatibility antigen, B-56 alpha chain;HLA class I histocompatibility antigen, B-59 alpha chain;HLA class I histocompatibility antigen, B-67 alpha chain;HLA class I histocompatibility antigen, B-7 alpha chain;HLA class I histocompatibility antigen, B-73 alpha chain;HLA class I histocompatibility antigen, B-8 alpha chain;HLA class I histocompatibility antigen, Cw-5 alpha chain;HLA-B alpha chain (HLA-B*7301);HLA-B*5901 antigen;HLA-Bw45 antigen;MHC Class I HLA heavy chain;MHC HLA-B cell surface glycoprotein;MHC HLA-B transmembrane glycoprotein;MHC class I antigen B*13;MHC class I antigen B*14;MHC class I antigen B*15;MHC class I antigen B*18;MHC class I antigen B*27;MHC class I antigen B*35;MHC class I antigen B*37;MHC class I antigen B*38;MHC class I antigen B*39;MHC class I antigen B*40;MHC class I antigen B*41;MHC class I antigen B*42;MHC class I antigen B*44;MHC class I antigen B*45;MHC class I antigen B*46;MHC class I antigen B*48;MHC class I antigen B*49;MHC class I antigen B*51;MHC class I antigen B*52;MHC class I antigen B*53;MHC class I antigen B*54;MHC class I antigen B*55;MHC class I antigen B*56;MHC class I antigen B*57;MHC class I antigen B*58;MHC class I antigen B*59;MHC class I antigen B*67;MHC class I antigen B*7;MHC class I antigen B*73;MHC class I antigen B*78;MHC class I antigen B*8;MHC class I antigen B*81;MHC class I antigen Cw*5;MHC class I antigen GN00104;MHC class I antigen HLA-B heavy chain;MHC class I antigen SHCHA;OTTHUMP00000029212;b'DT;bw-22;bw-4;bw-41;bw-44;bw-46;bw-52;bw-53;bw-54;bw-55;bw-57;bw-60;leukocyte antigen class I-B;lymphocyte antigen;major histocompatibility complex, class I, B APPROVED protein-coding ENSG00000234745 4932 00828 106300;142830;608579 REVIEWED 1354401 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010] 6 6 p21 32831853 32839308 - 32723875 32731330 - 1580863;6480464 19180512;14730600;14702039;14574404;12477932;11334674;11118314;10661406;8568858;3858830;3036828;2564844;10729169;8084338;9079699;8376762;7602119;3489470;12427289;8168144;7541827;2846691;2543930;7512597;1978941;1967269;1869305;21257290;20587610;19851445;20237496;21906983;21408207;1420115;22407913;22446962;21750111;23053960;23349640;23382691;11593029;12836198;12970439;15078178;15194762;16091223;16354571;16454711;17959659;18945465;19149577;19449444;19620308;19770068;20012522;21778700;21922073;22103833;22103834;22175768;22860026 3120 A2ADX3;H0Y7Y7;P05538;Q5SQ90;Q5SQ91;Q5SR05 ABBA01038131;AK098007;AL671681;AL672104;AL713890;AL773543;AMYH01016239;BC031995;BX296564;BX927160;CH471081;CR753846;CR759848;CR788227;CR936921;M24920;M24921;M24922;M24923;M83890;M95729;NM_001198858;X87344;Z84490 AAA52667;AAA52668;AAA52669;AAA52670;BAG53563;CAA60790;CAD20258;EAX03635;EAX03636;EAX03637;NP_001185787;P05538 Hs.731563 1668532;2163514;2165508;5019048 G43554;RH36565;RH46826;WI-16883 HLA-DQB1;HLA-DXB DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB));HLA class II histocompatibility antigen, DQ beta 2 chain;HLA class II histocompatibility antigen, DX beta chain;MHC class II antigen DQB2;OTTHUMP00000029168;OTTHUMP00000029169;OTTHUMP00000178595;OTTHUMP00000178596;major histocompatibility complex, class II, DQ beta 1;major histocompatibility complex, class II, DQ beta 2 APPROVED protein-coding ENSG00000232629 4945 09983;09984 615161 REVIEWED 1347386 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008] 6 6 p21.3 33151738 33162954 + 33043703 33057473 + 1580863;5143998;5143999;5143938;5143939;5143980;5144001;6480651;6480464;6907045;5147561 21186201;19165231;21217921;20046412;21423603;18652916;7576003;21569485 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3115 A2BEU2;B0V056;B0V1E4;F5H135;H0Y5P2;H0Y7G7;I4EC15;Q5EP54;Q5SQ72;Q9GIX6 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Hs.485130 1648390;1787904;1794502;2106385;2118865;2217428;5092000 D6S1867;D6S2767;HLA-DPB1_3384;PMC316580P2;RH37399;SHGC-173634;STS-M57466 DPB1;FLJ57621;FLJ61008;HLA-DP;HLA-DP1B;HLA-DPB HLA DP14-beta chain;HLA class II histocompatibility antigen, DP beta 1 chain;HLA class II histocompatibility antigen, DP(W4) beta chain;HLA-DP histocompatibility type, beta-1 subunit;MHC HLA DPB1;MHC class II HLA-DP-beta;MHC class II HLA-DP-beta-1;MHC class II HLA-DRB1;MHC class II antigen DP beta 1 chain;MHC class II antigen DPB1;MHC class II antigen DPbeta1;MHC class II antigen beta chain;OTTHUMP00000029091;OTTHUMP00000029093;OTTHUMP00000178827;beta1 domain MHC class II HLA DPB;class II HLA beta chain;major histocompatibility complex class II HLA DPB1 protein;major histocompatibility complex class II antigen beta chain APPROVED protein-coding 4940 00832 142858 REVIEWED 1351810 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. 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3117 E9PI37;E9PMV2;F6UB03;Q08AS3;Q5Y7H0;Q8MH44;Q9BD37 AB006908;AB209628;ABBA01038126;ABBA01038127;AF012768;AF109734;AF126253;AF322870;AF395700;AF515807;AF515808;AF515809;AF515810;AF515811;AF515812;AF515813;AF522250;AF533895;AF533896;AF533897;AF533898;AF533899;AF533900;AF533901;AF533902;AF533903;AF533904;AF533905;AF533906;AF533907;AF533908;AF533909;AF533910;AF533911;AF533912;AF533913;AF533914;AF533915;AF533916;AF533917;AF533918;AF533919;AF533920;AF533921;AF533922;AF533923;AF533924;AF533925;AF533926;AF533927;AF533928;AF533929;AF533930;AF533931;AF533932;AF533933;AF533934;AF533935;AF533936;AF533937;AF533938;AF533939;AF533940;AJ296092;AK130598;AK130811;AK130838;AK297065;AK313975;AL662789;AL731683;AL928759;AL935026;AM042559;AM042560;AM286275;AM286276;AM286277;AMYH01016239;AY180974;AY197775;AY206406;AY375896;AY375905;AY375912;AY375913;AY375914;AY375915;AY375916;AY375917;AY375918;AY375919;AY375920;AY375921;AY375922;AY375931;AY375932;AY375933;AY375934;AY375935;AY375936;AY375937;AY375938;AY375939;AY375940;AY375941;AY375942;AY375943;AY375944;AY375945;AY375946;AY375947;AY375948;AY375949;AY375952;AY375953;AY375954;AY375955;AY375956;AY375957;AY375958;AY375959;AY375960;AY375961;AY375962;AY375963;AY375964;AY375965;AY375970;AY375972;AY375973;AY375974;AY375978;AY375979;AY375980;AY375981;AY375982;AY375983;AY375984;AY375985;AY375986;AY375987;AY547314;AY585236;AY663394;AY663395;AY663396;AY663397;AY663400;AY663405;AY663406;AY663408;AY663409;AY663411;AY663412;AY663413;AY663414;AY663415;BC008585;BC051832;BC073977;BC125044;BC125045;BC171877;BU617246;BX248406;BX927168;CH471415;CR450297;CR753835;CR753846;CR933859;DQ178403;DQ178407;DQ178411;DQ178415;DQ284436;DQ284437;DQ284438;DQ284439;DQ284440;L34082;L34083;L34084;L34085;L34086;L34087;L34088;L34090;L34091;L34092;L34093;L34094;L42625;L46875;M16995;M17236;M17846;M17847;M18935;M20431;M20506;M26041;M29613;M29616;M33906;M34996;M34999;M59802;M83887;NG_032876;NM_002122;S75685;U03675;U77589;U85035;U92032;U97555;X00033;X00370;X00452;XM_003846467;XM_003846468;XM_003846469;XM_003846470;Z84489 AAA35771;AAA36267;AAA52671;AAA59707;AAA59708;AAA59756;AAA59757;AAA59758;AAA59759;AAA59760;AAA59774;AAA59784;AAA64233;AAA74633;AAA85334;AAB32621;AAB41891;AAB51233;AAB58310;AAB60341;AAB70189;AAB91990;AAC41950;AAC41951;AAC41952;AAC41953;AAC41954;AAC41955;AAC41956;AAC41958;AAC41959;AAC41960;AAC41961;AAC41962;AAD49219;AAD56720;AAH08585;AAH73977;AAI25045;AAI25046;AAI71877;AAK11577;AAM69677;AAM74914;AAM74915;AAM74916;AAM74917;AAM74918;AAM74919;AAM74920;AAM94809;AAM94810;AAM94811;AAM94812;AAM94813;AAM94814;AAM94815;AAM94816;AAM94817;AAM94818;AAM94819;AAM94820;AAM94821;AAM94822;AAM94823;AAM94824;AAM94825;AAM94826;AAM94827;AAM94828;AAM94829;AAM94830;AAM94831;AAM94832;AAM94833;AAM94834;AAM94835;AAM94836;AAM94837;AAM94838;AAM94839;AAM94840;AAM94841;AAM94842;AAM94843;AAM94844;AAM94845;AAM94846;AAM94847;AAM94848;AAM94849;AAM94850;AAM94851;AAM94852;AAM94853;AAM94854;AAO23559;AAO45622;AAO47362;AAP80750;AAQ89959;AAQ89960;AAQ89961;AAQ89962;AAQ89963;AAQ89964;AAQ89965;AAQ89966;AAQ89967;AAQ89968;AAQ89969;AAQ89974;AAQ89976;AAQ89977;AAQ89978;AAQ89982;AAQ89983;AAQ89984;AAQ89985;AAQ89986;AAQ89987;AAQ89988;AAQ89989;AAQ89990;AAQ89991;AAQ91390;AAQ91391;AAQ91392;AAQ91393;AAQ91394;AAQ91395;AAQ91396;AAQ91397;AAQ91398;AAQ91399;AAQ91400;AAQ91401;AAQ91402;AAQ91411;AAQ91412;AAQ91413;AAQ91414;AAQ91415;AAQ91416;AAQ91417;AAQ91418;AAQ91419;AAQ91420;AAQ91421;AAQ91422;AAQ91423;AAQ91424;AAQ91425;AAQ91426;AAQ91427;AAQ91428;AAQ91429;AAQ91430;AAQ91431;AAQ91432;AAS49496;AAT09985;AAU87975;AAU87978;AAU87981;AAU87984;AAU87992;AAU88004;AAU88007;AAU88013;AAU88016;AAU88022;AAU88025;AAU88028;AAU88031;AAU88034;ABA86855;ABA86856;ABA86857;ABA86858;ABC66202;ABC66203;ABC66204;ABC66205;ABC66206;ABM82461;ABM85650;BAA22189;BAD92865;BAG36689;BAG59586;CAA24917;CAA25141;CAB06491;CAC88114;CAG29293;CAJ14960;CAJ14961;CAL08011;CAL08012;CAL08013;EAW50504;EAW50505;NP_002113;P01909;XP_003846515;XP_003846516;XP_003846517;XP_003846518 Hs.387679;Hs.591798;Hs.706240 1337938;1342185;1677854;1686242;1691244;1694732;1779204;1790797;1793282;5016458;7183769;7184107;7186195;7204152 D5S498;D6S1666;D6S2446;D6S291;G28524;G43562;PMC204479P1;RH76581;RH78929;RH79899;SHGC-152784 CD;CELIAC1;DQ-A1;FLJ27088;FLJ27328;GSE;HLA-DQA;MGC149527 DC-1 alpha chain;DC-alpha;HLA class II histocompatibility antigen, DQ alpha 1 chain;HLA class II histocompatibility antigen, DQ(W3) alpha chain;HLA-DCA;MHC HLA-DQ alpha;MHC class II DQA1;MHC class II HLA-D alpha glycoprotein;MHC class II HLA-DQ-alpha-1;MHC class II antigen;MHC class II surface glycoprotein;OTTHUMP00000029141;OTTHUMP00000176885;OTTHUMP00000178551;OTTHUMP00000178552;OTTHUMP00000233817;leucocyte antigen DQA1;leukocyte antigen alpha chain APPROVED protein-coding ENSG00000196735 4942 06765 146880;212750 REVIEWED 1352496 HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) p21.3 18466483;12477932;12133402;8436426;6947956;3571980;3129499;3032786;1541486;20095337;11237011;15496913;18193213 3124 AL049740;AL662842;AL929581;GL000251;GL000255;M16274;M16275;M86691;NG_002392 1651283;1854390;2106301;2155163 D6S2880;RH46844;SHGC-35283;STS-H52245 HLA-DR2B;MGC120245 pseudo 4950 VALIDATED 1354106 HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) 6 6 p21.3 32628468 32635757 - 32520490 32527779 - 6480464 17910142;12133402;12089714;10436177;9601939;1937579;1529427;23472185 3128 O77966 AF005487;AL713966;AMYH01016239;L76565;L76566;NG_002432;NR_001298;U33547 AAC26400 Hs.723344 2106301;2118054 D6S2880;RH69091 pseudo ENSG00000229391 4954 VALIDATED 1602730 HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) p21.3 3856276;1529427;11237011;15496913;18193213 3129 AL137064;BX296568;BX649210;CR753309;CR753835;CR753841;CR933540;GL000252;K02772;K02773;K02774;NG_002433 1675941 RH76259 pseudo 4955 VALIDATED 1347117 HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) p21.3 3036826;1529427;11237011;15496913;18193213 3130 AADB02009981;ABBA01028473;ABBA01028474;ABBA01028475;ABBA01028476;ABBA01028477;BX571807;BX927235;CR753835;CR933540;M20556;NG_002433;Z84477 pseudo 4956 VALIDATED 1345710 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) 6 6 p21.3 32535575 32535844 - 32427597 32427866 - 1580863 12133402;7759314;1529427;19820697;20228798;22493691 3132 Q30217 AL670296;AL845554;AMYH01016239;FN985098;FN985099;NG_002392;NG_002432;S78510 AAD14284;CBN72526;CBN72527 1793282;2217432 HLA-DRA_3387;PMC204479P1 D6S206;D6S206E;HLA-DR1BL;HLA-DRB1L pseudo 4957 VALIDATED 1345500 HLA-DRB4 major histocompatibility complex, class II, DR beta 4 HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] p21.3 1580863;6480464;6907045 10425186;8775462;19235017;19233472;19223392;19052923;19035513;18846964;18569076;18523312;18520346;18223493;18053473;17910142;17893434;17763415;17491100;17310371;17237562;17182961;17174751;17153701;17106278;17052889;17021767;17002906;16815190;16690413;16634878;16629714;16441501;16405603;15982264;15908298;15902698;15896200;15730527;15721314;15513680;15191532;15188377;15140072;15055474;15046556;14677183;14574404;14558083;14508706;12956878;12859598;12541760;12477932;12392858;12391221;12358860;12296785;12230470;12209103;12202216;12144632;12144077;12121280;12008082;11997714;11972878;11751963;11532019;11118314;11082517;11034566;10717810;10703621;10661406;10551425;9952022;9500545;9354468;9243754;9234493;9223324;9162096;9098937;9062971;9027964;8344726;8125298;8085262;7792759;7652736;7528725;3875800;3860851;3596674;3476943;3467350;3458223;3372263;3174462;3110774;3099214;3036826;3020127;3015788;2592019;2511168;2466818;2212675;2023919;1905983;1612646;1428007;1358866;8084338;9079699;8376762;7602119;3489470;15784911;16973583;10729169;8450224;8168144;7734415;7541827;2846691;2543930;12427289;7645219;1970352;7512597;1978941;1967269;1869305;15496913;18193213;11237011;20606439;11782380;19487610;19811438;19922436;20164547;20193583;20307907;20371654;21988832;23454623;11827988;11048639;18305173;21282506;21666788;22041925;12631591;17411376;17431094;17507489;17959659;18672082;18945465;19449444;19620308;19770068;20012522;21085635;21778700;21922073;22808111;22860026;20458337;21410658;15795121;18039812;22531795;21556773;22671039 3126 Q861F3;Q9UM28 AADB02027554;AB049459;AB107960;AB112911;AB207269;ABBA01028466;ABBA01028467;AF017439;AF028010;AF029284;AF029287;AF036944;AF048707;AF142448;AF144081;AF177215;AF207709;AF214572;AF227518;AF305212;AF324240;AF335233;AF352295;AF361548;AF361549;AI829825;AJ131789;AJ223124;AJ242833;AJ243701;AJ252282;AJ289123;AJ292564;AJ293725;AJ297503;AJ401236;AJ812566;AJ870921;AK225683;AK225690;AK291499;AK292151;AK293020;AL929581;AM086025;AM109974;AY033428;AY043181;AY174091;AY174092;AY283604;AY339246;AY394720;AY428805;AY465114;AY663410;AY724685;AY750899;AY772533;AY899825;AY961064;AY961067;AY961070;BC005312;BF974249;BX120007;BX571807;BX927235;CR788250;D50865;D64042;D86502;D86503;D89879;D89918;DQ011879;DQ136035;DQ179038;DQ284431;DQ284433;DQ358688;EF536016;GL000253;GL000254;GL000256;GQ891550;K02775;L08621;L14852;M14190;M15071;M15178;M15838;M16732;M16942;M17385;M17388;M20555;M27509;M27644;M30180;M35006;M59803;M63195;M63200;M74030;M74031;M81176;M96130;NG_002433;NM_021983;S48645;U03291;U03721;U09200;U17379;U26659;U29342;U35375;U35729;U36827;U37433;U39087;U41490;U41491;U47028;U59686;U70544;U70545;X65567;X99839;Y09313 AAA03144;AAA03486;AAA17991;AAA35995;AAA36288;AAA36296;AAA36299;AAA36300;AAA52320;AAA52323;AAA52327;AAA52769;AAA59691;AAA59714;AAA59802;AAA59813;AAA59815;AAA59825;AAA59830;AAA62839;AAA62840;AAA64237;AAA72782;AAA75373;AAA79144;AAA86243;AAA86244;AAA91843;AAA99536;AAB18636;AAB24005;AAB52230;AAB63410;AAB63411;AAB63412;AAB70553;AAB94612;AAC05578;AAC31951;AAC37561;AAC50165;AAC51629;AAC51630;AAD09441;AAD31292;AAD53054;AAD53910;AAF32284;AAF61218;AAF65493;AAF65496;AAG22593;AAG22826;AAH05312;AAK20875;AAK27712;AAK55114;AAK81687;AAM00252;AAM00253;AAN52494;AAO20088;AAO20089;AAQ18120;AAQ18913;AAQ96922;AAR07616;AAR28666;AAU88021;AAV38108;AAV38129;AAW59561;AAW82078;AAX63452;AAX63455;AAX63458;AAY40254;AAZ67361;ABA06596;ABC66198;ABC66200;ABC84557;ABQ08747;ACX50637;BAA09461;BAA10907;BAA13097;BAA13098;BAA14036;BAA14037;BAB16298;BAC75547;BAD02942;BAD91204;BAF84188;BAF84840;BAF85709;CAA11127;CAA46536;CAA68150;CAA70497;CAB65073;CAB65103;CAB65735;CAB96577;CAC00534;CAC19015;CAC20415;CAC27124;CAC28260;CAH23708;CAI35044;CAJ30431;CAJ33581;NP_068818;P13760;P13762 Hs.534322;Hs.696211;Hs.716081;Hs.723344 1651283;1655128;1675941;1677800;1679395;1684164;1688891;1741043;1854390;2118054;2142838;2155163;2161829;5113105 GDB:177509;RH15772;RH46799;RH46844;RH69063;RH69085;RH69091;RH69107;RH76259;RH80065;RH80804;RH93154;SHGC-35283;STS-H52245 DR-13;DR-14;DR-4;DR13;DR14;DR4;DRB4;HLA-DR4B DR-12;DR-4;DR12;DR4;DRB1 transplantation antigen;HLA class II histocompatibility antigen, DR beta 4 chain;HLA class II histocompatibility antigen, DRB1-12 beta chain;HLA class II histocompatibility antigen, DRB1-4 beta chain;MHC HLA DR-beta chain;MHC class I antigen DRB1*12;MHC class I antigen DRB1*4;MHC class II HLA-DR-beta-7;MHC class II antigen DRB1*12;MHC class II antigen DRB1*13;MHC class II antigen DRB1*14;MHC class II antigen DRB1*4;MHC class II antigen DRB4;MHC class II antigen HLA-DR-beta;MHC class II antigen HLA-DRB1;MHC class2 antigen;class II histocompatibility antigen HLA DR alpha, beta1-0307;human leucocyte antigen DRB4;leucocyte antigen DRB1;leukocyte antigen;major histocompatibility complex, class II, DR beta 1;major histocompatibility complex, class II, DR beta 4 APPROVED protein-coding 4952 09986 REVIEWED 1344093 HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Jul 2008] 6 6 p21.3 32515625 32520801 + 32407619 32412823 + 1580863;5147592;5490157;5490202;5490164;5490203;5490168;5490158;5490159;5490205;5490160;5490162;5147805;5490166;5490156;5490204;6480464;6484113;6907045 3142800;21427211;19834503;11812739;15644645;19635508;20711177;17660530;9104792;17568330;16687443;12126634;8676084;21791235;10527398 6952207;6821129;6811954;6422542;6416803;6403940;6324094;3266023;2212658;1905983;1512535;1448091;8084338;9079699;8376762;7602119;3489470;15784911;10729169;16973583;8450224;8168144;7734415;7541827;2846691;2543930;12427289;7645219;1970352;7512597;1978941;1967269;1869305;16454711;16354571;16091223;12970439;15194762;15078178;12836198;11593029;9700202;6304715;6812963;8890155;11048639;11827988;15489916;11260509;11239948;11181188;11168931;11118314;11070170;10716924;10661406;10480952;9782128;9759843;9371817;9354468;9310842;8920889;8773319;8649448;8574855;8454872;8316295;8152483;8145819;7912458;7835916;7648393;7629508;7519244;7477400;6955253;6955026;6952234;17652306;19247692;19204726;19188433;19143821;19120278;19117940;19116923;19047245;19046302;18987644;18939942;18932050;18846964;18836448;18371160;18270567;17662350;16341674;15836703;15688398;15536412;15489334;15467430;15361126;15301866;15105429;14976194;14736971;14574404;12932352;12707403;12580031;12477932;12445311;12373032;12370403;12244309;12230470;12202216;12117677;12074713;12073071;12006557;11927549;11854199;11777970;11751963;11742191;11464148;11361223;11320565;11298540;11294926;19913121;20546939;20587610;20628086;18305173;21037568;21072187;20410501;16242130;18931722;19122664;19287509;19430480;19525953;19648278;19660582;19820697;19851445;19861958;20041166;20118277;20159113;20202859;20228798;20232575;20237496;20362271;20378664;21282653;20497195;21297633;21653640;21602797;21482477;21804607;20458337;6817331;21898163;22096524;22541561;22243834;21059907;21906983;20686565;21779181;21804548;22286212;18215421;22391069;22889831;23264739;22890421;23028341;23028483;23128233;23349640;23449627;23472185;17411376;17431094;17507489;17959659;18672082;18945465;19149577;19449444;19620308;19770068;20012522;21085635;21778700;21922073;22103833;22103834;22175768;22808111;22860026 3122 B4DLJ8;B4DW37;F5GZ59;P01903;Q30118;Q5SP06 ABBA01038112;AF481359;AI492718;AK297032;AK301134;AK301190;AK301354;AK310161;AK313123;AL662796;AL670296;AL935032;AMYH01016239;BC032350;BC071659;BG548634;BM849755;BX120007;CH471081;CR354545;CR457013;CR753634;CR759779;J00193;J00194;J00195;J00197;J00201;J00203;J00204;K01171;M35979;M60333;M60334;NG_002392;NM_019111;V00523;V00524;V00528;X00274;Z84814 AAA36272;AAA36275;AAA36283;AAA36301;AAA36302;AAA59783;AAA59785;AAA59787;AAH32350;AAH71659;AAO23887;ABM82521;ABM85715;BAG35943;BAG59560;BAG62726;BAG62899;BAH13427;CAA23782;CAA23783;CAA23787;CAA25076;CAB06609;CAG33294;EAX03629;EAX03630;EAX03631;NP_061984;P01903 Hs.520048 1741121;1792536;1792850;1793282;1795010;2217432;5014764 GDB:177843;HLA-DRA_3387;PMC153210P2;PMC166015P1;PMC204479P1;PMC87290P1;RH78783 FLJ51114;HLA-DRA1;MLRW HLA class II histocompatibility antigen, DR alpha chain;MHC cell surface glycoprotein;MHC class II antigen DRA;OTTHUMP00000029406;OTTHUMP00000029407;histocompatibility antigen HLA-DR alpha APPROVED protein-coding ENSG00000204287 4947 00833 142860 REVIEWED 1343169 HLA-DRB3 major histocompatibility complex, class II, DR beta 3 HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] p21.3 1580863;6480464;6907045 6414998;11144299;10609818;8775462;11048639;11827988;15489916;17652306;19286445;19235017;19233472;19223392;19136661;18846964;18537178;18520346;18486765;18258695;18223493;17927716;17911430;17910142;17763415;17714554;17714418;17583734;17559577;17509091;17182961;17153701;17106278;17052889;17006990;17002906;16929349;16916662;16879749;16815190;16426242;16405603;16320316;16200610;15908298;15902698;15896200;15652424;15620466;15531903;15496209;15496200;15489334;15041167;14677183;14574404;14508706;12956878;12694584;12477932;12392858;12296785;12230470;12209103;12202216;12144632;12144619;12144077;12133402;12008082;11997714;11894954;11872240;11782380;11751963;11380956;11182227;11169267;11169247;11118314;11098940;11082517;11027344;10958362;10902611;10661406;9802612;9389331;9243765;18569076;9234494;9234492;9223324;9162096;8500529;8462990;8125298;8016840;7477400;6589154;6415003;3476943;3466180;3459965;3372263;3110774;3020126;3012569;2497068;2493052;2471740;1908841;1905983;8084338;9079699;8376762;7602119;3489470;15784911;16973583;10729169;8450224;8168144;7734415;7541827;2846691;2543930;12427289;7645219;1970352;7512597;1978941;1967269;1869305;11237011;15496913;18193213;20331476;20606439;19487887;19776016;19830726;19851445;19922436;20149160;20307907;20395221;20371654;20933106;20972469;18305173;17207965;21447263;22366579;21666788;23010279;17411376;17431094;17507489;17959659;18672082;18945465;19449444;19620308;19770068;20012522;21085635;21778700;21922073;22433715;22808111;22860026;20458337;21507567;23596045;15795121;17050030;22531795;22671039;21988832;23387390 3125 Q9TP01;Q9UQT9 A06800;AF000448;AF026467;AF028012;AF028589;AF058294;AF081677;AF092089;AF092176;AF132810;AF148518;AF152844;AF152845;AF177216;AF192258;AF192259;AF199236;AF208484;AF208485;AF361865;AF427138;AF427139;AF455114;AF461431;AJ001255;AJ238155;AJ242860;AJ242861;AJ242862;AJ290395;AJ315477;AJ441058;AJ507784;AJ507785;AJ555542;AJ564210;AK226043;AL662842;AL929581;AY033875;AY036908;AY042679;AY094138;AY138123;AY271986;AY291205;AY958608;BC001023;BC008987;BC106057;CH471081;CR759919;CR788283;DQ011880;DQ064701;DQ179035;DQ179037;DQ309438;DQ311653;DQ518875;GL000250;M13561;M13562;M16941;M17380;M28991;M28992;M35004;NG_002392;NM_022555;U36826;U66825;U94590;U95819;U95820;V00522;X04055;X04058;X04059;X65558;X65559;X65560;X95760;X99771;XM_003846462;XM_003846463;XM_003846464;Y08063;Y10180;Y10553;Y13715;Z84814 AAA36282;AAA36285;AAA36291;AAA52326;AAA59796;AAA59797;AAA59804;AAB53324;AAB63531;AAB84139;AAB86437;AAB94614;AAC05599;AAC13718;AAC32202;AAC64135;AAC64137;AAD00819;AAD00820;AAD30528;AAD43828;AAD45285;AAD45286;AAD53911;AAF13065;AAF23165;AAF23166;AAF26358;AAF26359;AAF67837;AAH01023;AAH08987;AAI06058;AAK38297;AAK59387;AAK67649;AAK94514;AAL26538;AAL26539;AAL57866;AAL66370;AAM14399;AAN15205;AAP23230;AAP43643;AAY28717;AAY40255;AAY59415;ABA06593;ABA06595;ABC33924;ABC40506;ABG33842;ADQ31672;CAA00596;CAA04629;CAA23781;CAA46528;CAA46529;CAA46530;CAA65066;CAA68104;CAA69301;CAA71253;CAA71585;CAA74043;CAB06607;CAB41973;CAB62390;CAB62391;CAB62392;CAC27417;CAC86562;CAD29670;CAD47820;CAD47821;CAD88258;CAD91915;CAE82039;CAE82045;CAE82072;EAX03632;NP_072049;P13761;P79483;XP_003846510;XP_003846511;XP_003846512 Hs.696211 1655128;1677800;1677977;1680405;1680767;1688891;1691040;1741043;1794500;2106297;2115317;2118054;2161829;2183992;5113105 D6S2881;GDB:177509;PMC316580P1;RH15772;RH46799;RH46825;RH69063;RH69091;RH69092;RH69107;RH70404;RH79846;RH80065;RH80800;STS-V00522 HLA-DR3B;HLA-DR52;HLA-DRB1;MGC117330 DR7;HLA class II histocompatibility antigen, DR beta 3 chain;HLA class II histocompatibility antigen, DRB1-7 beta chain;MHC class II HLA-DR beta 3 chain;MHC class II antigen DR beta 3 chain;MHC class II antigen DRB3;human leucocyte antigen DRB3;major histocompatibility complex, class II, DR beta 3 APPROVED protein-coding 4951 09985 612735 REVIEWED 1353906 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. 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Hs.409934;Hs.534322 1645027;1668532;1778909;2146819;2163315;2177691;2189559;2217430;5124436;7187278 D6S1841;D6S2202;D6S2447;HLA-DQB1_3386;RH36565;RH46706;RH69385;RH80803;STS-K02405 CELIAC1;HLA-DQB;IDDM1 HLA class II histocompatibility antigen, DQ beta 1 chain;MHC DQ beta;MHC class II DQ beta chain;MHC class II HLA-DQ beta glycoprotein;MHC class II antigen DQB1;MHC class II antigen HLA-DQ-beta-1;MHC class2 antigen;OTTHUMP00000029167;OTTHUMP00000178569;OTTHUMP00000178570;OTTHUMP00000178571;lymphocyte antigen;major histocompatibility complex class II beta APPROVED protein-coding ENSG00000179344 4944 05054 123400;126200;212750;604305 REVIEWED 1349235 HLA-H major histocompatibility complex, class I, H (pseudogene) This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010] 6 6 6 p21.3 31453521 31456982 + 29963508 29966245 + 29855383 29858856 + 1580863;6480464;7240710 6461010;15359910;15350465;14702039;9866194;2329283;2294403;1517564;21145461;20237496;21906983;22412388 3136 P01893 AB023057;ABBA01038038;AK090500;AK299998;AK308374;AL645929;AL671561;AL845454;AMYH01016203;BX284699;BX927141;CR388220;CT009496;CT009517;M31944;M32104;M32105;M32106;M32107;NR_001434 BAG52173;BAG61817;P01893 Hs.728808 1786134;5020447 RH70531;SHGC-172558 HLAHP APPROVED pseudo 4965 104300;176100;176200;235200;612635;614193 REVIEWED 2303893 HLA-F-AS1 HLA-F antisense RNA 1 6 6 6 p22.1 31297807 31320259 - 29816795 29825089 - 29694378 29716826 - 14702039;8889548;19851445;19525953;22219177 285830 Q69YQ6 AA868186;ABBA01038036;AK092748;AL645939;AL669813;AL832418;AL844851;AMYH01016197;BM726335;BX005428;BX927182;BX927250;CH471081;CR753818;CR788234;NR_026972;NR_026973 CAH10612;EAX03228 Hs.646985 1654334;1675756;1790871;2143917;2146916;2220084;2220086;2220088;2220090;2220314;7184079;7184130 D6S2707;D6S2864;D6S2865;D6S2866;D6S2970;HLA-F;RH69296;RH71004;RH98629;STS-R00280 FLJ35429 APPROVED miscrna ENSG00000214922 26645 16938 VALIDATED 1349823 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] 6 6 p21.3 32654527 32665559 - 32546546 32557613 - 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Hs.534322;Hs.696211;Hs.736560 1655128;1675941;1677800;1677977;1679395;1680405;1680767;1684164;1688891;1691040;1741043;1744493;1794500;1854390;2106305;2106307;2115317;2118054;2142838;2155163;2161829;2183992;2189723;5113105 D6S2805;D6S2878;GDB:177509;GDB:458708;M2_2_36;PMC316580P1;RH15772;RH46799;RH46825;RH69063;RH69085;RH69091;RH69092;RH69107;RH70404;RH76259;RH79846;RH80065;RH80800;RH80804;RH93154;SHGC-35283;STS-H52245;STS-V00522 DRB1;DRw10;FLJ75017;FLJ76359;HLA-DR1B;HLA-DRB;HLA-DRB1*;SS1 DR-16;DR-8;DR1;DR16;DR5;DR8;DRw11;DRw8;DW2.2/DR2.2;HLA class II antigen beta chain;HLA class II histocompatibility antigen, DR-1 beta chain;HLA-DR-beta 1;MHC class II HLA-DR beta 1 chain;MHC class II HLA-DR-beta cell surface glycoprotein;MHC class II HLA-DRw10-beta;MHC class II antigen;MHC class II antigen HLA-DR13;OTTHUMP00000029282;human leucocyte antigen DRB1;leucocyte antigen DR beta 1 chain;leucocyte antigen DRB1;lymphocyte antigen DRB1;major histocompatibility complex, class II, DR beta 1 APPROVED protein-coding ENSG00000196126 4948 08349 126200;142857;180300;181000 REVIEWED 1350973 HLA-K major histocompatibility complex, class I, K (pseudogene) 6 6 6 p21.3 31492603 31495775 + 30002214 30005465 + 29894436 29897616 + 1517564;19851445 3138 AB023056;ABBA01038039;AL645935;AL671277;AL845454;AMYH01016204;BA000025;BX005091;CR382333;CR388220;CR759913;M96335;NG_015982 1681923;1770879;1794508;1852219 D6S1105E;PMC316580P5;RH80274;STS-M80468 HLA-70;HLA70;HLAK pseudo 4969 INFERRED 1347571 HLA-N major histocompatibility complex, class I, N (pseudogene) 6 6 p21.3 31917046 31918010 + 30318851 30319815 + 10452889;1517563 267014 ABBA01038041;AL662795;AL662831;AL773535;AMYH01016204;BX294158;BX927214;CR759281;CR759928;M96329;NG_009940 HLA-30 pseudo 19406 INFERRED 1350012 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008] 6 6 p21.3 32593129 32605984 - 32485151 32498006 - 1580863;6480464;6907045 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3127 Q9MY54;Q9Y454 AB010269;AB010270;AB062112;AB106129;AB112913;AB176444;AF004817;AF011786;AF029281;AF029282;AF029283;AF029285;AF029286;AF029291;AF029301;AF034858;AF047350;AF052574;AF081676;AF089719;AF093411;AF112877;AF112878;AF122887;AF142442;AF142445;AF142451;AF142465;AF142466;AF144080;AF164346;AF169239;AF186407;AF186408;AF201762;AF234175;AF234181;AF243537;AF247533;AF247534;AF267639;AF288212;AF306862;AF329281;AF335230;AF442519;AF450093;AF490771;AJ243897;AJ243898;AJ245714;AJ245715;AJ245717;AJ249726;AJ251984;AJ252281;AJ271159;AJ289124;AJ297582;AJ297705;AJ306404;AJ401148;AJ404618;AJ491301;AJ506201;AJ506752;AJ507382;AJ507425;AJ507780;AJ512947;AJ534885;AJ539471;AJ580838;AJ783982;AJ854064;AJ854250;AJ867236;AJ871009;AJ878425;AK292140;AK314834;AL713966;AM000036;AM084908;AM159646;AM231063;AMYH01016239;AY048687;AY141137;AY170862;AY172512;AY174184;AY179366;AY179367;AY179368;AY247411;AY257483;AY259126;AY259128;AY267906;AY277387;AY277391;AY277393;AY296120;AY296121;AY305859;AY307897;AY331806;AY379480;AY396024;AY429723;AY429728;AY457037;AY465115;AY502108;AY504812;AY504813;AY545466;AY641577;AY664400;AY664401;AY765349;AY877348;AY884215;AY899913;BC009234;CH878642;D13412;D14352;D29836;D49468;DQ135944;DQ179034;DQ179042;DQ514604;DQ525634;DQ535034;DQ643390;DQ837166;EF078986;EF419344;EF495154;L21755;L26306;L41992;M15839;M15992;M16086;M16954;M16955;M16956;M17377;M17379;M17382;M17383;M20429;M20503;M27689;M30181;M30182;M32578;M35159;M57600;M57648;M59798;M63216;M74032;M81171;M81174;M81180;M98436;NG_002432;NM_002125;S79786;U08274;U17381;U25442;U25638;U26558;U31770;U34602;U37583;U41489;U41634;U59685;U66721;U66826;U68391;U72064;U72264;U79025;U79026;U79027;U95115;U95818;U96926;X64544;X64548;X64549;X65585;X86803;X95656;X97291;X99841;X99895;Y07590;Y09342;Y13727;Y17695;Y17819;Z83201;Z99006 AAA36276;AAA36277;AAA36278;AAA36292;AAA36294;AAA52325;AAA58651;AAA58657;AAA59678;AAA59679;AAA59693;AAA59715;AAA59791;AAA59795;AAA59803;AAA59818;AAA59819;AAA59822;AAA59826;AAA59829;AAA59840;AAA63193;AAA63218;AAA64236;AAA65914;AAA67471;AAA67957;AAA75451;AAA79206;AAA84388;AAA86242;AAA91838;AAA91841;AAA91847;AAB02172;AAB08109;AAB17276;AAB17994;AAB50934;AAB52229;AAB52232;AAB52235;AAB52236;AAB52237;AAB58397;AAB61608;AAB63983;AAB65751;AAB71649;AAB87709;AAB88297;AAC05828;AAC05839;AAC24013;AAC32201;AAC50167;AAC61746;AAD00818;AAD10735;AAD14315;AAD29582;AAD29583;AAD31286;AAD31289;AAD31295;AAD31309;AAD31310;AAD31766;AAD43829;AAD47814;AAD51315;AAD53053;AAF06175;AAF06176;AAF35306;AAF64297;AAF65490;AAF65491;AAF65492;AAF65494;AAF65495;AAF65500;AAF78946;AAF99607;AAF99608;AAG00414;AAG01005;AAG42258;AAG50193;AAH09234;AAK20872;AAK21117;AAL12226;AAL47161;AAN28924;AAN75784;AAN86038;AAO16556;AAO17056;AAO23237;AAO23238;AAO23239;AAO85467;AAO91660;AAP13509;AAP21612;AAP21614;AAP32697;AAP34691;AAP34695;AAP34697;AAP55804;AAP55805;AAP70485;AAP74221;AAP93590;AAQ85128;AAQ96776;AAR10879;AAR10882;AAR20446;AAR28667;AAR89455;AAR98643;AAR98644;AAS48869;AAT64904;AAT76040;AAT76041;AAV35213;AAW66688;AAW80834;AAW82335;AAZ53370;ABA06592;ABA06600;ABF60567;ABF74599;ABF93212;ABG25965;ABH05946;ABK56696;ABN58745;ABP38039;ADQ31602;BAA02678;BAA03281;BAA06216;BAA08440;BAA36549;BAA36550;BAB84521;BAC66088;BAD02944;BAD15070;BAF84829;BAG37353;CAA45842;CAA45846;CAA45847;CAA46544;CAA60498;CAA64958;CAA65956;CAA68152;CAA68170;CAA68865;CAA70524;CAA74055;CAA76817;CAA76871;CAB05668;CAB11742;CAB51474;CAB51475;CAB53343;CAB53344;CAB53346;CAB56285;CAB65734;CAB71144;CAB94833;CAC06089;CAC08822;CAC10354;CAC19016;CAC19085;CAC29238;CAD36477;CAD44639;CAD44945;CAD45638;CAD45639;CAD47817;CAD55599;CAD59236;CAD62435;CAE45568;CAH04455;CAH69440;CAI05916;CAI29455;CAI38569;CAI47597;CAJ01187;CAJ29895;CAJ43899;CAJ76979;EAW50813;EAW50814;EAW50815;EAW50816;NP_002116;Q30154;Q9TQE0 Hs.485130;Hs.534322;Hs.696211;Hs.736560 1655128;1675941;1677977;1679395;1680405;1691040;1741043;2115317;2118054;5113105 GDB:177509;RH15772;RH46825;RH69091;RH69092;RH76259;RH79846;RH80065;RH80800;RH80804 FLJ76359;HLA-DRB DR beta-5;DR-9;DR2-beta-2;DR9;HLA class II histocompatibility antigen, DR beta 5 chain;HLA class II histocompatibility antigen, DR-5 beta chain;HLA class II histocompatibility antigen, DRB1-9 beta chain;MHC HLA-DR-beta cell surface glycoprotein;MHC HLA-DR-beta chain;MHC class II HLA beta chain;MHC class II antigen DRB1*9;MHC class II antigen DRB5;OTTHUMP00000029035;dw2;human leucocyte antigen DRB5;leukocyte antigen class II;major histocompatibility complex, class II, DR beta 5 APPROVED protein-coding ENSG00000198502 4953 09209 604776 REVIEWED 1347312 HLA-T major histocompatibility complex, class I, T (pseudogene) 6 6 6 p21.3 31462252 31464754 + 29972197 29974706 + 29864220 29866724 + 16829309;16331567;16292086;10557312;1517563 352964 AB023057;ABBA01038038;AL645929;AL645935;AL845454;AMYH01016204;BX284699;BX927141;CR388220;CT009496;CT009517;M96340;NG_015985 HLA-16 pseudo 23478 INFERRED 1349267 HLA-S major histocompatibility complex, class I, S (pseudogene) 6 6 p21.3 32951709 32952627 - 31349346 31350264 - 10452889;1517563 267015 ABBA01038073;AL669854;AL671883;AL845443;AMYH01016216;BX119958;CR318637;M96339;NG_009941 1721383;1790833;1790997;2106155;2159692;7183519;7184115;7184138;7185971;7185973 D6S2673;D6S2810;G59693;MIB;RH46102 HLA-17 pseudo 19395 INFERRED 1342820 HLA-P major histocompatibility complex, class I, P (pseudogene) 6 6 p21.2 31370954 31373989 + 29767821 29770856 + 10557312;1517563 352963 ABBA01038036;AL645939;AL671561;AL844851;AMYH01016198;BX005428;BX927141;CR759769;CR788234;CR925767;M96333;NG_002731 2220094 D6S2854 C6orf101;HLA-90;dJ377H14.3 pseudo 21196 INFERRED 1351895 HLA-U major histocompatibility complex, class I, U (pseudogene) 6 6 6 p21.3 31499707 31500823 + 30009519 30010635 + 29901541 29902657 + 10557312;1517563 352965 AB023056;ABBA01038039;AL645935;AL671277;AL845454;AMYH01016204;BX005091;CR382333;CR388220;CR759913;M96330;NG_015992 2117226;2155625 D6S2033;RH46786 HLA-21 pseudo 23477 INFERRED 1349746 HLA-V major histocompatibility complex, class I, V (pseudogene) 6 6 p21.3 31362897 31363871 + 29759530 29760527 + 10557312;1517563;1517564 352962 ABBA01038036;AL645939;AL671561;AL844851;AMYH01016197;BX005428;BX927182;CR759769;CR788234;CR925767;M96332;NG_002729 1678407;1701310 RH104284;RH80527 HLA-75;dJ377H14.4 pseudo 23482 INFERRED 1344404 HLA-X major histocompatibility complex, class I, X (pseudogene) 6 6 p21.3 33027553 33028197 - 31429623 31430267 - 9799336;8462994 267016 ABBA01038075;AL645933;AL662866;AMYH01016216;BX005439;D88576;NG_009943 pseudo 19385 INFERRED 2292052 HLA-Y major histocompatibility complex, class I, Y (pseudogene) p21.33 15219387;10551419;21209280 100127173 AY344232;AY436316;Y18651 HLA-DEL;HLA-GOR pseudo 33913 1343069 HLA-W major histocompatibility complex, class I, W (pseudogene) 6 6 6 p21.3 31521822 31525027 + 30031589 30034813 + 29923611 29926835 + 10557312;1517563;20205591;22075330 352966 AB023056;ABBA01038040;AL645935;AL671277;AL845454;AMYH01016204;BX005091;CR382333;CR388220;CR759762;CR759913;M96334;NG_015995 HLA-80 pseudo 23425 INFERRED 1349791 HLA-Z major histocompatibility complex, class I, Z (pseudogene) 6 6 p21.3 34413067 34413154 + 32864179 32864266 + 8568858 267017 ABBA01038134;AL669918;AL671681;AL935042;AMYH01016239;BX088556;BX927138;CR752645;CR759798;CR936913;NG_009944;X87344 HLA-Z1 pseudo 19394 INFERRED 6481124 HLCS-IT1 HLCS intronic transcript 1 (non-protein coding) 100874294 AP000699 bde1 miscrna 41343 1345133 HLA-F major histocompatibility complex, class I, F This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008] 6 6 p21.3 29799096 29803052 + 29691117 29695073 + 1580863;6480464;6907045 1688605;18941505;17971048;17157219;9586638;9052838;15078178;10684310;14965316;12836198;12414957;11463741;10982373;10366557;9582271;16272310;16091223;15638726;12734410;8612235;16709803;16702430;16570139;16341674;16185322;14705989;14702039;14607927;14595379;14574404;12874228;12477932;11751963;11169396;10727083;10605026;9887353;9840288;9751712;9545232;9247579;9089112;8518796;8493575;8125298;7621073;1707659;10799863;1316930;8084338;9373217;7913356;12427289;9263011;7539755;11932387;10546855;9120272;8877415;8671651;2789433;10707087;12526811;11289809;11578695;20593013;18658158;19622345;19664746;19851445;20237496;20483783;20865824;22490650;21906983;22412388;22544725;18057255;18296443;18438604;18653452;18725938;18808677;19149577;19449444;19555986;19643141;19770068;19847956;20012528;20380698;20702582;21165790;21762823;21861776;22103831;22103833;22103834;22175768;22301137;22503975;22505724;22844345 3134 B1AZU4;B4DT81;B7Z760;D0EV57;E9PGX5;F6T2Q8;H0Y4J4;H0Y842;Q5JZ48;Q5SPT7;Q6ZUW0;Q9TP68 AB011820;AB088082;AB103588;AB201549;ABBA01038036;AF055066;AF523284;AF523285;AF523286;AF523287;AF523288;AF523289;AF523290;AF523291;AF523292;AF523293;AF523294;AF523295;AF523296;AF523297;AK096962;AK125274;AK225185;AK298704;AK300090;AK301488;AK302420;AK303670;AK309156;AL022723;AL645939;AL669813;AL844851;AMYH01016197;AY216682;AY221102;AY253269;AY253270;AY253271;AY328516;AY645742;AY645743;AY645744;AY645745;AY645746;AY645747;AY645748;AY645749;AY645750;AY645751;AY645752;AY645753;AY645754;AY645755;AY645756;AY645757;AY645758;AY645759;BA000025;BC009260;BC062991;BM798587;BX005428;BX927250;CA436948;CB528356;CD365590;CD369507;CH471081;CR753818;CR759790;CT002787;D78595;DQ367723;GQ891552;NG_012009;NM_001098478;NM_001098479;NM_018950;X17093 AAC24827;AAH09260;AAH62991;AAM74979;AAM74980;AAM74981;AAM74982;AAM74983;AAM74984;AAM74985;AAM74986;AAM74987;AAM74988;AAM74989;AAM74990;AAM74991;AAM74992;AAO34407;AAO37689;AAO86773;AAO86774;AAO86775;AAP94210;AAT73225;AAT73226;AAT73227;AAT73228;AAT73229;AAT73230;AAT73231;AAT73232;AAT73233;AAT73234;AAT73235;AAT73236;AAT73237;AAT73238;AAT73239;AAT73240;AAT73241;AAT73242;ABD38924;ACX50639;BAA32747;BAB63337;BAC54915;BAC86108;BAE78596;BAF31252;BAG53400;BAG60861;BAG61893;BAG63725;BAG64668;BAH13496;CAA34947;CAB46623;CAI20359;CAI20360;EAX03223;EAX03224;EAX03225;EAX03226;EAX03227;NP_001091948;NP_001091949;NP_061823;P30511 Hs.519972 1654334;2125617;2146916;2189639 D6S2269;RF;RH71004;STS-R00280 CDA12;HLA-5.4;HLA-CDA12;HLAF HLA F antigen;HLA class I histocompatibility antigen, alpha chain F;HLA class I molecule;MHC class I antigen;MHC class I antigen F;MHC class Ib antigen;OTTHUMP00000109209;OTTHUMP00000109210;OTTHUMP00000109211;leukocyte antigen F APPROVED protein-coding ENSG00000204642 4963 00884 143110 REVIEWED 6481576 HLFP1 hepatic leukemia factor pseudogene 1 6 132996024 132996522 + 100873813 ABBA01025878;AL032821;AMYH01016676;NG_032376 pseudo 41922 INFERRED 1342604 HLA-J major histocompatibility complex, class I, J (pseudogene) This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. [provided by RefSeq, May 2010] 6 6 6 p21.31 31571953 31575938 + 30082352 30085123 + 29973748 29977733 + 1580863;6480464 16344560;12477932;1602142;20593013;2497062;21906983;21900946 3137 Q30175 AB023056;ABBA01038041;AL645935;AL669914;AL671277;AL845454;AMYH01016204;BC020891;BC062324;BC089454;BX005091;BX088647;BX120004;BX927229;CR388205;CR759763;CR759960;DA965044;M80468;M80469;M80470;NR_024240 AAA66955 Hs.720762 1786134;1852219;5020447;5024339 RH66830;RH70531;SHGC-172558;STS-M80468 CDA12;D6S203;HLA-59;HLA-CDA12;MGC105145;MGC71446 APPROVED pseudo 4967 REVIEWED 6481412 HLTF-AS1 HLTF antisense RNA 1 3 148804119 148820610 + 100873945 ABBA01058947;ABBA01058948;AC021059;AMYH01013569;AMYH01013570;NR_046648 Hs.742423 APPROVED miscrna ENSG00000239718 40554 PREDICTED 1353823 HLA-E major histocompatibility complex, class I, E HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 p21.3 30565250 30569077 + 30457183 30461982 + 1580863;6480464;6907045 3260916;11513152;19318419;19239424;19180512;19140831;18987160;18832701;18692948;18448674;18445777;18332182;18292941;18270229;18083576;17961774;17768067;11137220;10898498;10809759;10557312;10203023;10064069;9894856;9886400;9840288;9751712;9660937;9605335;9545232;9486650;9427624;9218527;9154460;9103421;9103419;8493575;8125298;7751618;7621073;3131426;2825194;2438694;2249951;1977695;1624808;1530866;1401923;12427289;9263011;7539755;10799863;1316930;9373217;7913356;8084338;11932387;10546855;9120272;8877415;8671651;2789433;15316337;10707087;12526811;11289809;11578695;11432755;9586638;9052838;15078178;11270642;17767552;17554300;17445187;17257316;17164714;17157219;16920947;16702430;16573557;16570139;16362895;16341674;16224817;16034073;16003246;15952123;15829309;15751767;15681828;15631661;15620456;15496202;15489334;15226423;14595379;12929994;12874228;12618909;12590976;12477932;12461082;12461076;12411439;12232815;11920559;11774212;11751963;11714810;12836198;12414957;11463741;10982373;10366557;9582271;16272310;16091223;15638726;12734410;8612235;10684310;14965316;22797727;22883433;22576308;16344560;20546939;20587610;20673868;15383281;21963094;22505724;22594712;23395341;20113960;21057081;20877010;14734748;16169070;17953356;18759005;19198610;19253840;19430480;19571808;19571811;19696636;19780673;19851445;19860682;19860683;19912639;19915572;19935378;20062062;20125193;20167379;20237496;20452482;9815261;21399635;21208785;21299523;22490650;22927436;21179573;20667016;21699788;21738478;23362868;21332388;21410502;21744989;21186170;21518478;21890659;22688191;21890473;21906983;21969815;22177730;22190577;22032294;22050290;22345649;21900946;21953582;22256791;22495925;22486789;23039207;22688424;22961001;23377987;23511034;18057255;18296443;18438604;18653452;18725938;18808677;19149577;19449444;19555986;19643141;19770068;19847956;20012528;20380698;20702582;21165790;21762823;21861776;22103831;22103833;22103834;22175768;22301137;22427472;22503975;22640987;22797925;22844345;22898188 3133 A8K8M6;O19682;P13747;Q6DU44 AB014080;AB088094;AB103600;AB202091;AB209870;ABBA01038047;AF523274;AF523275;AF523276;AF523277;AF523278;AF523279;AF523280;AF523281;AF523282;AF523283;AJ002533;AJ002534;AJ293263;AJ293264;AJ715787;AK098434;AK225048;AK292391;AK296822;AK298695;AK300906;AK301125;AK314411;AK316327;AL662822;AL662873;AL844213;AMYH01016204;AY216681;AY221103;AY645724;AY645725;AY645726;AY645727;AY645728;AY645729;AY645730;AY645731;AY645732;AY645733;AY645734;AY645735;AY645736;AY645737;AY645738;AY645739;AY645740;AY645741;BA000025;BC002578;BC004297;BC040479;BM791769;BX538084;BX936369;CA439575;CD366016;CH471081;CR382280;CR762481;CR936916;DA832616;L78455;L78934;L79943;M16714;M20022;M21533;M31183;M32506;M32507;M32508;NM_005516;X56841;X64879;X64880 AAA36305;AAA52655;AAA57146;AAA59835;AAA63223;AAA63224;AAA63225;AAF25962;AAH02578;AAH04297;AAH40479;AAM74969;AAM74970;AAM74971;AAM74972;AAM74973;AAM74974;AAM74975;AAM74976;AAM74977;AAM74978;AAO34408;AAO37688;AAT73207;AAT73208;AAT73209;AAT73210;AAT73211;AAT73212;AAT73213;AAT73214;AAT73215;AAT73216;AAT73217;AAT73218;AAT73219;AAT73220;AAT73221;AAT73222;AAT73223;AAT73224;ABM82817;ABM86003;BAB63328;BAC54925;BAD93107;BAE78609;BAF31260;BAF85080;BAG59393;BAG60853;BAG62542;BAG62719;BAH14698;CAA05526;CAA05527;CAA40172;CAA46098;CAA46099;CAC07212;CAC07213;CAD98008;CAG29392;EAX03290;EAX03291;EAX03292;NP_005507;P13747 Hs.650174 1735894;1772385;1773101;1792482;2143042;2161187;5021872;5022578;5022651;5037552 A008W41;D11S2921;D1S1423;D1S1925E;D8S2279;PMC151808P1;RH36163;RH45169;SHGC-31506;sY3084 DKFZp686P19218;EA1.2;EA2.1;HLA-6.2;MHC;QA1 HLA class I histocompatibility antigen, E alpha chain;HLA class I histocompatibility antigen, alpha chain E;MHC HLA-E alpha-1;MHC HLA-E alpha-2.1;MHC class I antigen E;OTTHUMP00000029214;lymphocyte antigen APPROVED protein-coding ENSG00000204592 4962 00877 143010 REVIEWED 1347423 HLA-G major histocompatibility complex, class I, G HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008] 6 6 p21.3 29903497 29906859 + 29794756 29798899 + 1580863;5144132;5144145;5144121;5144066;5144114;5144118;5144131;6480464;6907045;7240710 20487636;19624485;10706505;20044437;19775370;15611928;21087648 17971055;17932417;22395526;9539768;19407850;19378785;19369464;19356145;19341387;19336370;19318395;19317745;19304799;19254259;19247692;19223288;19192345;19141398;19136885;19127811;19098486;19098364;19088262;19038339;18976687;18952696;18937912;18926911;18854100;18830248;18823661;18797896;18782112;18721275;18721274;18700878;18608865;18574769;18538388;18528424;18509163;18499249;18498645;18494931;18480096;18442718;18423887;18380776;18365402;18353802;18334671;18331529;18322247;18314122;18295671;18295670;18292821;18288133;18266268;18257896;18257895;18249584;18243178;18241213;18208868;18059484;18051955;18024326;17982631;17981049;17971051;17971048;17961331;17953947;17951263;12454284;12443029;12440768;12392506;12390865;12390864;12232815;12207326;12183445;12115588;12039526;11975984;11861287;11834945;11807769;11766889;11751963;11719594;11261931;11169254;11137220;11137212;11034559;10843658;10816129;10809759;10727083;10626737;10479058;10479054;10371972;10360962;10330285;10190906;10190900;10082427;10082426;9933109;9855710;9840288;9777333;9751712;9684993;9665340;9637505;9545232;9531263;9405670;9373856;9228302;9221758;9218527;9144223;9129971;9103419;9089111;9023816;8662085;8493575;8376185;8183892;8102125;8020553;7836069;7751618;7621073;7589701;7584149;3480534;2336406;2326636;2295808;2249951;2016528;1908512;1890021;1744000;1624808;1570318;8084338;9373217;7913356;12427289;9263011;7539755;11932387;10546855;9120272;8877415;8671651;2789433;10799863;1316930;10707087;12526811;11289809;11578695;9586638;9052838;15078178;10684310;14965316;12836198;12414957;11463741;10982373;10366557;9582271;16272310;16091223;15638726;12734410;8612235;17897304;17881247;17873550;17854427;17847008;17846022;17845209;17825579;17768067;17767556;17716911;17707652;17702965;17689098;17683947;17681474;17678721;17675239;17673327;17667815;17616704;17559583;17509578;17493150;17490670;17462509;17446213;17445192;17400057;17399800;17371944;17350091;17303922;17257316;17207707;17176444;17169192;17157219;17121749;17118165;17076671;17072500;17067446;17059603;17026466;16933468;16916651;16906016;16867913;16734140;16702430;16698426;16684846;16644675;16616377;16570139;16549178;16501035;16493088;16490253;16459714;16455647;16441481;16426245;16424159;16366734;16362895;16243800;16236759;16210588;15950065;15900488;15837058;15780179;15713211;15670976;15652415;15578261;15556689;15548266;15546345;15514928;15466928;15380940;15373761;15331623;15284117;15219378;15191524;15133645;15090794;15001239;14974449;14711057;14702039;14700594;14697234;14672336;14662880;14639610;14638437;14634138;14628085;14602240;14602238;14602237;14602235;14602233;14602232;14602229;14602228;14602227;14595379;14592815;14500461;12959223;12900514;12878353;12874228;12874224;12874014;12853576;12842408;12721954;12616484;12582157;12552087;12477932;12477705;22150122;22663996;22321350;22455690;21423069;21653640;20646444;19913121;20448110;20566461;20587610;20588159;20593013;20600443;20610644;20628086;20636826;20646443;20673868;15924672;17953356;19193353;19253840;19298722;19401389;19410660;19494525;19531101;19570712;19584149;19619059;19638290;19651177;19651178;19651180;19654030;19656137;19660509;19664669;19665041;19700612;19724893;19728333;19748989;19758196;19762282;19783164;19798077;19811467;19821846;19841038;19845828;19851445;19860681;19884219;19890057;19913587;19915057;19951440;20017810;20030786;20054107;20070604;20085794;20122941;20167379;20177352;20205591;20228379;20356537;20356990;20452482;20477884;20732367;21214525;20482523;20492598;20196818;21063893;21103908;20052552;20823837;20969909;20977358;20097242;20113960;20547193;20600448;20473865;20702625;21057081;22651916;22930786;19602033;20360645;21210353;21248264;19799650;20952056;21299523;21299526;21185786;20667016;19035141;21377504;21107725;21092455;21395561;21510769;21482709;21744989;21843913;21354454;21482149;22733180;23002136;22490650;22759804;22820627;22939629;21795647;18550825;21696824;21418849;21726203;21186170;21663783;21521177;22095460;22296096;22421410;22438923;22489942;22678912;22542123;21471023;21847675;22115424;23002109;23009094;23002110;21612396;21725493;21762747;21792710;21925559;22654952;21960588;21399669;21813635;21954834;22028161;22044721;22075330;22080860;22092595;22178697;22213066;22253825;22412388;22745579;22512775;22877943;21253738;22763960;23219427;22505724;23264673;23127550;22750489;23317190;22227454;22563925;22708635;22922127;23107341;23146557;23265140;23335072;18057255;18296443;18438604;18653452;18725938;18808677;19149577;19449444;19555986;19643141;19770068;19847956;20012528;20380698;20702582;21165790;21762823;21861776;22103831;22103833;22103834;22175768;22301137;22503975;22632162;22640987;22844345;23627021 3135 P17693;Q29897;Q31611;Q5RJ85;Q6DU14 AB088083;AB201550;ABBA01038036;AF020714;AF055066;AF071017;AF071018;AF071019;AF071020;AF071021;AF071022;AF196177;AF196178;AF226990;AF312697;AF436089;AF523298;AF523300;AF523301;AF523302;AF523303;AF523304;AF523305;AF523306;AF523307;AF523308;AF523309;AF523310;AF523311;AK093478;AK302054;AL022723;AL551999;AL645929;AL671561;AMYH01016198;AY359818;AY645760;AY645761;AY645762;AY645763;AY645764;AY645765;AY645766;AY645767;AY645768;AY645769;AY645770;AY645771;AY645772;AY645773;AY645774;AY645775;AY645776;AY661647;AY661648;AY661649;AY661650;AY661651;AY661652;AY667429;AY667430;AY667431;AY667432;AY667433;AY672592;AY672593;AY672594;AY672595;AY672596;AY672597;AY672598;AY675175;AY675176;AY675177;AY675178;AY675179;AY675180;AY675181;AY675182;BA000025;BC021708;BX001005;BX247949;BX927141;CH471081;CR759769;CR788234;CR925767;CT009517;D67005;D67008;D67011;D78000;DC397107;J03027;L07784;L20777;L78072;L78073;M32800;M90683;M90684;M90685;M90686;NG_029039;NM_002127;U58024;U58025;U58026;U58027;U58028;U58029;U58094;U65246;U88244;U97035;U97036;U97037;U97038;U97039;X17273;X60983;XM_003960994 AAA17890;AAA52673;AAA58653;AAA58654;AAA59836;AAA59846;AAA98745;AAB59351;AAC04369;AAC04370;AAC04371;AAC04372;AAC04373;AAC04374;AAC04375;AAC24826;AAC25569;AAC25570;AAC25571;AAC25572;AAC25573;AAC25574;AAC50997;AAC51855;AAC51856;AAC51857;AAC51858;AAC51859;AAC51863;AAD45397;AAF25961;AAF37570;AAH21708;AAK38203;AAL30408;AAL40074;AAM74993;AAM74994;AAM74995;AAM74996;AAM74997;AAM74998;AAM74999;AAM75000;AAM75001;AAM75002;AAM75003;AAM75004;AAM75005;AAQ83724;AAT73243;AAT73244;AAT73245;AAT73246;AAT73247;AAT73248;AAT73249;AAT73250;AAT73251;AAT73252;AAT73253;AAT73254;AAT73255;AAT73256;AAT73257;AAT73258;AAT73259;AAT74562;AAT74563;AAT74564;AAT74565;AAT74566;AAT76793;AAT76794;AAT76795;AAT76796;AAT76797;AAT76798;AAT76964;AAT76965;AAT76966;AAT76967;AAT76968;AAT76969;AAT76970;AAT81378;AAT81379;AAT81380;AAT81381;AAT81382;AAT81383;AAT81384;AAT81385;ABM87808;ABW03643;BAA11031;BAA11032;BAA11033;BAA11185;BAB63336;BAC54916;BAE78597;BAG63444;CAA35174;CAA43298;CAB46612;EAX03231;EAX03232;EAX03233;EAX03234;EAX03235;EAX03236;NP_002118;P17693;XP_003961043 Hs.512152 1743029;1743229;1745701;1745703;1745705;1745707;1745709;1745711;5110546;5120590 GDB:250402;GDB:306049;GDB:361668;GDB:632502;GDB:632559;GDB:632567;GDB:632571;GDB:632598;GDB:632608;RH46693 MHC-G HLA G antigen;HLA class I histocompatibility antigen, alpha chain G;HLA class I molecule;HLA-G histocompatibility antigen, class I, G;MHC class I antigen;MHC class I antigen G;OTTHUMP00000029218;OTTHUMP00000029220;OTTHUMP00000033527;OTTHUMP00000159507;b2 microglobulin APPROVED protein-coding ENSG00000204632 4964 00834 142871;600807 REVIEWED 6481324 HM13-AS1 HM13 antisense RNA 1 20 30155510 30161066 - 100874042 ABBA01019305;AL110115;AMYH01011830;NR_046853 Hs.743198 APPROVED miscrna ENSG00000230613 41940 PREDICTED 1354336 HLA-L major histocompatibility complex, class I, L (pseudogene) 6 6 6 p21.3 31825554 31832941 + 30334627 30339534 + 30227339 30234728 + 1517564;11181995;12477932;16344560;19851445 3139 Q6ZSK9 ABBA01038041;AK127349;AL662782;AL662832;AL844220;AMYH01016204;BC139904;BC141846;BX248419;BX927189;CH471081;CR388382;DA108297;M96338;NR_027822 AAI39905;AAI41847;BAC86939;EAX03278;EAX03279 Hs.656020 FLJ45422;HLA-92;HLA92;HLAL;MGC164773;MGC167006 APPROVED pseudo ENSG00000243753 4970 VALIDATED 5686932 HMBOX1-OT1 HMBOX1 overlapping transcript 1 (non-protein coding) p12 100861508 BE222849 miscrna 43631 1347027 HLF hepatic leukemia factor This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 q22 50697320 50757425 + 53342321 53402426 + 1580863;6480464 1386162;8639829;18239067;17183364;16344560;16215946;16206189;15489334;15070701;12700034;12477932;10216071;10202154;10073576;9742120;9704006;9110174;8889549;8619474;8608207;8164688;8065331;22318606;7556072;1516826;21072044;20519628;20201926;20211142;21988832;23415677;23263486 3131 A8K1X8;I3L386;I3L4R4;Q16534;Q6FHS9 AA021027;ABBA01041287;AC007638;AF035305;AK074289;AK290043;AK295726;AK315079;AMYH01008488;BC036093;CH471109;CR541672;DA104709;DA637609;M95585;NM_002126;X68985 AAA52675;AAH36093;BAF82732;BAG37547;BAG58567;CAA48777;CAG46473;EAW94544;NP_002117;Q16534 Hs.196952 1666541;1758303;1764125;1850413;2119563;2143285;2147716;2173729;2178041 RH35952;RH69615;RH69641;RH78377;SHGC-11266;SHGC-147774;SHGC-147997;STS-M95585;WI-7705 MGC33822 hepatic leukemia factor APPROVED protein-coding ENSG00000108924 4977 00797 142385 REVIEWED 1320489 HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011] 21 21 q22.13 37045059 37284373 - 38123189 38362545 - 1580863;6480464;6907045;7240710 20688500;7842009;16780588;19157941;19048367;18452652;18429047;17904341;17417720;15489334;12477932;12124727;11735028;10830953;10190325;9630604;9503011;9396568;9037601;8817339;8541348;8053691;7753853;6133032;20592104;16344560;20095979;14613969;18029348;19695181;19740736;19806568;19914215;20026029;20085763;20153287;21802411;21988832;21044950;21139048;22027809 3141 C9JCQ9;C9JD75;P50747 AB063285;ABBA01057404;ABBA01057405;ABBA01057406;ABBA01057407;ABBA01057408;AJ001864;AK307940;AK314189;AMYH01012229;AMYH01012230;AMYH01012231;AP000697;AP000698;AP000699;AP000700;AP000701;AP000702;AP000703;AP000704;AP001726;AP001727;BC060787;BI094308;BQ775124;CB049233;CH471079;D23672;D87328;DA334377;DB290499;H17102;NG_016193;NM_000411;NM_001242784;NM_001242785;X80160 AAH60787;BAA04902;BAA13332;BAA89434;BAA95510;BAA95511;BAB68550;BAG36868;CAA05056;EAX09731;EAX09732;NP_000402;NP_001229713;NP_001229714;P50747 Hs.371350;Hs.732538 1336862;1654011;1659892;1666604;1666956;1671666;1706270;1707280;1707800;1708292;1728073;1735018;1754781;1757057;1759817;1854170;1854172;1857724;2126803;2155517;2157702;2162462;5022651 A005N28;D11S2921;D21S167;D21S1717E;G20353;G34795;G63307;SHGC-10480;SHGC-12620;SHGC-144428;SHGC-170058;SHGC-52086;SHGC-52136;SHGC-53043;SHGC-79242;SHGC-80685;SHGC-81133;SHGC-82126;SHGC-87607;SHGC-87611;SHGC-9592;SHGC-9910;WI-15188 HCS OTTHUMP00000109038;OTTHUMP00000109039;biotin apo-protein ligase;biotin--[acetyl-CoA-carboxylase] ligase;biotin--[methylcrotonoyl-CoA-carboxylase] ligase;biotin--[methylmalonyl-CoA-carboxytransferase] ligase;biotin--protein ligase;holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) APPROVED protein-coding ENSG00000159267 4976 08360 253270;609018 REVIEWED 1323685 HLX H2.0-like homeobox 1 1 q41 219119382 219125018 + 221052743 221058401 + 1580863;6480464;6484113 9073066;8094082;18029348;19362357;19295429;19038437;18402755;17532041;17110450;16902145;16436665;16344560;14702039;12477932;9665637;8095486;7806220;7680402;1712647;1676597;1672660;1375114;1349016;1283323;20554918;19459883;20008130;21224470;22303482;21890473;22014209;22897850;22989111;23251661 3142 F8VVX3;F8VWZ5;Q14774 AB208812;ABBA01048071;AF217621;AK056326;AK127923;AK313298;AL445423;AMYH01001743;BC007294;BC033808;CH471100;DA951303;M60721;NM_021958;S56767;S56768;S56769;U14325;U14326;U14327;U14328;U14329 AAC51346;AAD13883;AAD13884;AAD13885;AAF65541;AAH07294;AAH33808;ABM84231;ABM87760;BAD92049;BAG36105;BAG54598;EAW93288;EAW93289;NP_068777;Q14774 Hs.74870 1743063;1797688;2166980 GDB:251518;HLX1_2251;SHGC-32821 HB24;HLX1 H2.0-like homeo box 1;H2.0-like homeo box-1;H2.0-like homeobox 1;H2.0-like homeobox protein;OTTHUMP00000035459;OTTHUMP00000035460;h2.0-like homeo box 1 (drosophila);homeobox protein HB24;homeobox protein HLX1 protein-coding 4978 00875 142995 VALIDATED 1344998 HMG1L high-mobility group (nonhistone chromosomal) protein 1-like 3147 4992 1351924 HMG1P high-mobility group (nonhistone chromosomal) protein 1 pseudogene 3085 4999 1605323 HMCN1 hemicentin 1 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008] 1 1 q25.3-q31.1 183970306 184426708 + 185703683 186160085 + 6480464;7240710 19229767;17591627;17216616;17157600;17057786;16885922;16710414;15467524;15370542;14702039;14570714;12388743;11222143;9715689;19190085;19948975;20299368;22939629;22981695;23534349;19850743 83872 Q5TCP6;Q96RW7 ABBA01027706;ABBA01027707;ABBA01027708;ABBA01027709;ABBA01027710;ABBA01027711;AF156100;AJ306906;AK027344;AK056336;AK056557;AK096452;AL118512;AL121996;AL133515;AL133553;AL135796;AL135797;AL391824;AL833232;AMYH01001561;BX928748;CH471067;CS161060;NG_011841;NM_031935 AAK68690;BAB55049;BAB71154;BAB71216;CAC37630;CAH10605;CAJ30880;EAW91198;EAW91199;EAW91200;NP_114141;Q96RW7 Hs.58877 1336885;1337647;1337674;1338442;1338464;1340670;1342341;1671358;1680904;1689905;1752609;1781384;2117914;2173587;7186486 AL009939;D1S1194;D1S191;D1S2165;D1S254;D1S2848;D1S413;D1S444;D1S466;SHGC-1041;SHGC-106463;SHGC-106819;SHGC-3550;SHGC-58126 ARMD1;FBLN6;FIBL-6;FIBL6 OTTHUMP00000065631;fibulin 6;fibulin-6;hemicentin-1 APPROVED protein-coding ENSG00000143341 19194 06509 603075;608548 REVIEWED 1603011 HMBOX1 homeobox containing 1 8 8 8 p21.1 27707732 27869989 + 28804144 28965351 + 28747911 28910242 + 6480464 16825764;15489334;14702039;12477932;18983639;19728927;19757162;20379614;20182437;21832049;22990118;21839858;21706044;19471022;21693764;22320217;21988832;23251661 79618 E5RGZ2;E5RHH9;H0YBM8;H0YBS8;H0YC02;H0YKJ1;H0YLF2;Q6NT76 ABBA01005610;ABBA01005611;ABBA01005612;ABBA01005613;ABBA01005614;AC040975;AC091558;AC108449;AK025269;AK290683;AK295320;AK310959;AL832296;AMYH01018605;AMYH01018606;AY522342;BC009259;BC069242;CH471080;DQ153248;DQ269478;NM_001135726;NM_024567 AAH09259;AAH69242;AAS76643;AAZ81565;ABB82947;ABZ92410;BAB15099;BAF83372;BAG58297;EAW63496;EAW63497;EAW63498;EAW63499;EAW63500;EAW63501;EAW63502;NP_001129198;NP_078843;Q6NT76 Hs.591836 1661129;1662576;1700374;2112254;2112302;2158307;2166340;2187361 D11S4691;D8S2113;D8S2260;D8S2269;RH103807;RH46344;WI-20805;WI-5106 FLJ21616;HNF1LA;HOT1;PBHNF OTTHUMP00000163064;OTTHUMP00000225640;OTTHUMP00000225642;OTTHUMP00000225644;OTTHUMP00000225645;OTTHUMP00000225646;homeobox telomere-binding protein 1;homeobox-containing protein 1;homeobox-containing protein PBHNF protein-coding ENSG00000147421 26137 07964 VALIDATED 1319146 HLTF helicase-like transcription factor This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008] 3 3 q25.1-q26.1 150230594 150287031 - 148747904 148804341 - 1580863;6480464 18825407;7876228;22242598;22452792;18719106;18584949;18316726;18034322;17094449;17081983;15635413;15489334;15383276;12901794;12766908;12477932;11904375;11058586;10391891;9126292;8672239;8342330;7558014;11810028;17643375;18029348;19614770;19615732;19723507;19948885;20388495;19690564;22902628;21396873;16055720;19454010;20211142;20535496;23022380;16196087;21795603;21845734;20972266;21139048;21693764;21825151;21890473;21906983;21987572;19322201;22505724 6596 H7C5K0;Q05BZ6;Q14527 AB209052;ABBA01058948;AC021059;AI971472;AJ418064;AK291231;AMYH01013568;AMYH01013569;BC005260;BC014326;BC015498;BC030976;BC044659;CH471052;L34673;NM_003071;NM_139048;S64671 AAA67436;AAB27691;AAH05260;AAH15498;AAH30976;AAH44659;ABZ92233;BAD92289;BAF83920;CAD10805;EAW78889;EAW78890;EAW78891;EAW78892;EAW78893;NP_003062;NP_620636;Q14527 Hs.3068 1739913;1777280;2133623;2171490;2171492;2184719;5014808 A002A11;D3S2876E;D3S3493;G19843;SHGC-12604;SHGC-77432;STS-L34673 HIP116;HIP116A;HLTF1;RNF80;SMARCA3;SNF2L3;ZBU1 DNA-binding protein/plasminogen activator inhibitor 1 regulator;DNA-binding protein/plasminogen activator inhibitor-1 regulator;OTTHUMP00000215740;OTTHUMP00000215741;OTTHUMP00000215742;OTTHUMP00000215743;RING finger protein 80;SNF2-like 3;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3;helicase-like transcription factor;sucrose nonfermenting protein 2-like 3;sucrose nonfermenting-like 3 APPROVED protein-coding ENSG00000071794 11099 04461 603257 REVIEWED 1343766 HMGA1P1 high mobility group AT-hook 1 pseudogene 1 X X X p22 30893304 30895116 + 26675816 26678097 + 26766041 26767828 + 11672774;11063803;12727900 203477 ABBA01072570;AC107293;AF116914;AMYH01022171;NG_002324 HMGA1L1;HMGIYL1 APPROVED pseudo 13321 INFERRED 1603546 HMGA1P2 high mobility group AT-hook 1 pseudogene 2 4 4 4 q13.3 71320536 71322301 + 74182823 74184319 + 73964458 73966223 + 17098703;11672774;12727900 171559 ABBA01022984;AC105757;AF236857;AMYH01014297;NG_001569 HMGA1L2;HMGIYL2 APPROVED pseudo 13322 INFERRED 1351848 HMGA1P3 high mobility group AT-hook 1 pseudogene 3 12 12 12 q24.11 110493110 110494905 - 109350675 109352686 - 110866403 110868198 - 11672774;12727900 144712 ABBA01005107;AC005907;AC144548;AMYH01004742;BK000551;NG_002323 HMGA1L3;HMGIYL3 APPROVED pseudo 13323 INFERRED 5490911 HMGA1P4 high mobility group AT-hook 1 pseudogene 4 9 131425413 131425857 - 12727900 100506080 ABBA01043892;AL356481;AMYH01021749;NG_031851 pseudo 39093 INFERRED 1345354 HMGA1P5 high mobility group AT-hook 1 pseudogene 5 10 10 q22.2 70323165 70324565 - 77034894 77036294 - 12727900 387063 ABBA01020260;AC010997;AMYH01002838;NG_008009 1335677 D13S172 HMGA1L5 APPROVED pseudo 19120 INFERRED 1344216 HMGA1P6 high mobility group AT-hook 1 pseudogene 6 13 13 13 q12.12 4771442 4771981 + 22606417 22606706 + 23708307 23710054 + 12727900 100130029 ABBA01007868;AL356287;AMYH01004968;NG_027901 HMGA1L6 APPROVED pseudo 19121 INFERRED 1319013 HM13 histocompatibility (minor) 13 The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q11.21 29565902 29621031 + 30102241 30157370 + 1580863;6480464 14741365;14667819;16834339;16738546;16730383;16303743;15489334;15385547;14988012;14704149;14702039;12972007;12477932;12419218;12145199;12139484;12077416;11780052;19720873;22939629;16196087;15998642;16829952;16873890;17965014;21636854;18781797;20639865;21903422;21987572;21139048;21890473;21906983;19121997;22190034;22505724 81502 Q5JWP5 ABBA01019305;ABBA01019306;ABBA01019307;AF172086;AF483215;AF515663;AJ345029;AJ420895;AK074686;AK075283;AK314410;AL110115;AL121751;AMYH01011830;AY169310;AY169311;AY169312;BC008938;BC008959;BC062595;BI192962;CH471077;CQ783582;CS255962;DQ168450;HI968237;NM_030789;NM_178580;NM_178581;NM_178582 AAH08938;AAH08959;AAH62595;AAM22076;AAN77099;AAO12535;AAO12536;AAO12537;AAQ13609;ABA56163;ABM87205;BAC11138;BAC11519;BAG37032;CAC87790;CAD13132;CAF86750;CAJ75919;CBY88428;EAW76435;EAW76436;EAW76437;EAW76438;NP_110416;NP_848695;NP_848696;NP_848697;Q8TCT9 Hs.373741 1689741;1699376;1712170;1847573;5014053;5015619;5022383;5022578 D11S3114;D1S1423;D1S3693;ECD04345;G54135;RH103275;RH79806;STS-D29243 H13;IMP1;IMPAS;IMPAS-1;MSTP086;PSENL3;PSL3;SPP;SPPL1;dJ324O17.1 IMP-1;OTTHUMP00000030527;OTTHUMP00000030528;OTTHUMP00000030530;OTTHUMP00000214528;hIMP1;intramembrane protease 1;minor histocompatibility antigen 13;minor histocompatibility antigen H13;presenilin-like protein 3;signal peptide peptidase beta;signal peptide peptidase like 1 APPROVED protein-coding ENSG00000101294 16435 06166 607106 REVIEWED 733095 HMBS hydroxymethylbilane synthase This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 q23.3 118460797 118469469 + 118955587 118964259 + 1358673;1580863;1578396;2301682;2301684;2301681;2301683;4144803;4144806;4144542;4144808;4144787;4145271;6480464;6907045;7240710 11940707;16211407;2809566;16600798;15823405;3963818;6721832;16839620;6688350;9860299;8563760 18004775;18029348;19292878;19207107;19138865;19021769;18936296;18627369;18554962;18406650;18405488;18070416;17459418;17298217;17298216;16935474;16817012;16390615;16211556;15669678;15643298;15489334;15003823;14995910;14970743;14669009;12773194;12555854;12477932;12406973;12372055;11857754;11831862;11399210;11202057;11157504;11071386;11030413;11013452;10782018;10657149;10602775;10502788;10494093;10453740;9654202;9463797;9225970;9199558;8825929;8401516;8270256;8270254;8268934;8262523;8262514;8103755;8081367;7962538;7916736;7866402;7821789;7757070;7592566;6930671;3816774;3422427;2915972;2875434;2789372;2609111;2243128;2227955;2025226;1981047;1961762;1914516;1714233;1496994;1427766;1301948;19913121;20628086;17207965;20580577;16712791;20536026;12917623;2864531;8340112;20301372;21832049;22748422;21669542;21139048 3145 F5GY90;F5H0P4;F5H226;F5H345;F5H4W5;F5H4X2;F5H4Y7;P08397 AB162702;ABBA01039679;AK000628;AK131072;AK290275;AK309544;AK310343;AMYH01004080;AP003391;AP003392;AW139390;BC000520;BC008149;BC019323;BF210364;BQ020524;BX647328;CB128006;CH471065;D10608;D28419;HQ731552;M18799;M18800;M60888;M95623;NG_008093;NM_000190;NM_001024382;NM_001258208;NM_001258209;S60381;X04217;X04808;X68018 AAA60028;AAA60029;AAA60030;AAC60602;AAH00520;AAH08149;AAH19323;ADQ32697;ADX60069;BAA01463;BAA05785;BAD36778;BAF82964;CAA27801;CAA28499;CAA48156;EAW67447;EAW67448;EAW67449;EAW67450;NP_000181;NP_001019553;NP_001245137;NP_001245138;P08397 Hs.82609 1647307;1720979;1740947;1741249;1741661;1741757;1742333;1742335;1742585;1742621;1743713;1743715;1743717;1743719;1743721;1743723;1743725;1743727;1743729;1743731;1743733;1767495;1792092;1792842;1851648;1853970;2108145;2191685 D11S4628;G02272;G59319;GDB:176383;GDB:179873;GDB:181636;GDB:185078;GDB:196345;GDB:196348;GDB:197909;GDB:198121;GDB:371404;GDB:371408;GDB:371412;GDB:371415;GDB:371419;GDB:371425;GDB:371431;GDB:371437;GDB:371443;GDB:371447;GDB:371450;HMBS;HMBS_8406;MARC_4999-5000:996679654:1;PMC136706P1;PMC165384P1;STS-M95623 PBG-D;PBGD;PORC;UPS OTTHUMP00000238530;OTTHUMP00000238532;OTTHUMP00000238533;OTTHUMP00000238534;OTTHUMP00000238537;OTTHUMP00000238539;OTTHUMP00000238540;OTTHUMP00000238541;OTTHUMP00000238580;porphobilinogen deaminase;porphyria, acute; Chester type;pre-uroporphyrinogen synthase;uroporphyrinogen I synthase;uroporphyrinogen I synthetase APPROVED protein-coding ENSG00000256269 4982 01440 176000;609806 REVIEWED 6768961 HMGA1P8 high mobility group AT-hook 1 pseudogene 8 2 p13.1 74643938 74645818 - 12727900;9847074 100130009 ABBA01075600;AC005041;AMYH01010454;NG_032791 pseudo 39183 INFERRED 1352361 HMGA1P7 high mobility group AT-hook 1 pseudogene 7 6 q23.2 134435100 134438818 - 12727900;16344560 387065 ABBA01025865;AL449363;AMYH01016684;BF514910;DA252277;DB179218;DB306383;NR_037938 Hs.571061 HMGA1L7 APPROVED pseudo 19122 VALIDATED 1626387 HMCN2 hemicentin 2 9 9 9 q34.11 103680254 103847667 + 132213210 132299331 + 133223389 133309510 + 6480464 14702039;12388743;12477932;20379614 256158 A2A3K3;H0Y3X1;H7BZI5;H7C0N8;H7C3T8;Q8NDA2 ABBA01012042;ABBA01012043;ABBA01012044;ABBA01012045;ABBA01012046;ABBA01012047;ABBA01012048;AK074396;AK093583;AK128020;AK128680;AL354898;AL834139;AMYH01021767;AMYH01021768;AMYH01021769;BC146865;XM_001715154;XM_001726942;XM_003960462 AAI46866;BAB85069;BAC04201;BAC87234;CAD38854;Q8NDA2;XP_001715206;XP_001726994;XP_003960511 Hs.32194;Hs.512559 1763569;1764099;1779302;5014053;5015961 D15S1477;D1S3693;SHGC-147269;SHGC-147754;SHGC-153301 DKFZp434P0216;FLJ23816;FLJ46139;FLJ46844 hemicentin 2;hemicentin-2;hemicentin-2-like protein-coding 21293 MODEL 1344648 HMGB1P10 high mobility group box 1 pseudogene 10 22 22 22 q12.1 10760229 10761429 + 25275760 25287594 + 26956394 26957582 + 1580863 10591208;19505873;21145461;18029348;21963094 100130561 ABBA01055201;AMYH01012684;NG_008794;Z95115 HMG1L10;HMGB1L10;bK445C9.3 APPROVED pseudo 4994 INFERRED 4110492 HMGB1P11 high mobility group box 1 pseudogene 11 1 1 144349459 144350084 - 171240102 171240727 - 12727900 100419996 ABBA01027932;AL031274;AMYH01001493;NG_027013 2138655 SHGC-75897 HMGB1L11 APPROVED pseudo 13316 INFERRED 3207498 HMGB1P12 high mobility group box 1 pseudogene 12 X X X q23 111157250 111157838 + 110564311 110564908 + 110677655 110678243 + 12727900 100129723 ABBA01043300;AL035067;AMYH01022841;NG_022690 HMGB1L12 APPROVED pseudo 13317 INFERRED 1345595 HMGB1P1 high mobility group box 1 pseudogene 1 This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame, where the length of encoded protein is conserved, compared to the high-mobility group box 1 protein. However, due to the lack of conclusive evidence for specific transcription at this location, this locus is currently represented as a pseudogene. [provided by RefSeq, Jan 2010] 20 20 20 q13.32 52803392 52804581 - 55496854 55497489 - 56062997 56064186 - 12477932;9925949;20200978;20339536;23251661;23300278 10357 B2RPK0 ABBA01052927;AF076674;AL160176;AMYH01012012;NG_016433 HMG1L1;HMG1L7;HMGB1L1;dJ579F20.1 APPROVED pseudo 4993 17109 INFERRED 4144938 HMGB1P13 high mobility group box 1 pseudogene 13 6 6 6 q23.2 133936509 133937138 - 133231050 133231691 - 133189369 133189998 - 12727900 100129706 ABBA01025875;AL137783;AMYH01016677;NG_022327 HMGB1L13 APPROVED pseudo 13318 INFERRED 1352474 HMGB1P14 high mobility group box 1 pseudogene 14 14 14 14 q23.1 38801384 38802508 + 57821089 57822260 + 58751427 58752551 + 12727900 319130 ABBA01018256;AL132989;AMYH01005758;NG_002508 HMGB1L14;HMGB1P APPROVED pseudo 20014 INFERRED 5490928 HMGB1P15 high mobility group box 1 pseudogene 15 X X p11.22 50678659 50691468 - 50674114 50674548 - 12727900 644129 ABBA01060056;AL359914;AMYH01022332;NG_030350 pseudo 39097 INFERRED 5490927 HMGB1P17 high mobility group box 1 pseudogene 17 6 135957248 135957851 - 12727900 100419974 ABBA01025837;AL035604;AMYH01016695;NG_025876 pseudo 39099 INFERRED 4145166 HMGB1P18 high mobility group box 1 pseudogene 18 1 1 1 p31.1 78988138 78988755 + 80521625 80522245 + 80749037 80749654 + 12727900;23251661 646526 ABBA01074368;AC095036;AMYH01000731;NG_022786 1740729;1740757 D1S3228;D1S3244 APPROVED pseudo 39100 INFERRED 1348013 HMGA2 high mobility group AT-hook 2 This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 12 12 q15 64504507 64646338 + 66218240 66360071 + 1601568;1601569;1580863;1601567;1601592;5147841;6480464 8954805;10742101;7606786;11390395;18452175 18832382;18828159;18505920;18413822;18403645;18391952;18391951;18391950;18375116;18214854;18202751;18193045;17957144;17943974;17935122;17917968;17917958;17854665;17767157;17654722;17624332;17477356;17437991;17426251;17332316;17322030;17222355;17078040;17045619;17005673;16831886;16375854;16341674;16322327;16276091;16271958;16222997;16077985;16061642;15882911;15618963;15618962;15146197;15026339;14647145;14645522;14614053;14603445;13679031;12874787;12799440;12781451;12778070;12693954;12649198;12569368;12505264;12477932;16293633;19376282;19266077;19262251;19223528;19215040;19179606;19139030;19136928;19132395;19003801;18983959;18980243;18843278;22199144;22139073;12419585;11921278;11894114;11839563;11406267;11066083;11034995;10636877;10586108;10398424;9892177;9772904;9003504;8824803;8198613;7670494;7529547;7501444;1762909;19913121;20461755;20544840;20610542;20628086;20926602;20946527;20804914;20804922;20228781;20889853;20347930;20597139;20551826;22726539;18784955;19298872;19317492;19343178;19431195;19454362;19508721;19521953;19549901;19584346;19609535;19837271;19898227;19930247;20004941;20007691;20058197;20195514;20368557;20397748;20581827;16766265;21150874;18425117;21224353;10889043;21498692;20834238;22613496;19602040;19465398;19551524;21412931;21267005;14627817;15225648;16901784;21536653;21533145;15755872;17324944;21252160;21598109;21803798;21692035;21769890;21906983;22019704;21907836;22137485;22017592;22250726;22404713;22246783;22564666;23307470;23536553;21921580;21931568;21998595;22021425;22504419;22476403;22504417;22593436;22461106;23144634;23240041;20881960;22221703;22885925;22974476;23135750;23111731;23202124;18850631;23525579;23529275;19454010;22843696;23134771 8091 F5H2A4;F5H2U8;F5H6H0;H0YFY4;P52926;Q1M185;Q1M186;Q1M187;Q1M188 A52568;A80000;AB209853;ABBA01026580;AC090673;AC107308;AF326972;AF533651;AF533652;AF533653;AF533654;AI290477;AK311399;AK311443;AK311447;AMYH01004552;AMYH01004553;AY601861;AY601862;AY601863;AY601864;AY601865;AY601866;AY601867;BM782659;CA422738;CH471054;CN334368;L41044;L46353;NG_016296;NM_003483;NM_003484;U28749;U28750;U28754;U29112;U29113;X92518;Z31595 AAA68613;AAA68614;AAA96484;AAI60115;AAN64002;AAO48741;AAO48742;AAU43851;AAU43852;AAU43853;AAU43854;AAU43855;AAU43856;AAU43857;BAD93090;CAA03408;CAA63295;CAA83472;CAB59170;EAW97152;NP_003474;NP_003475;P52926 Hs.505924 1644607;1647326;1666042;1739843;1739845;1739849;1739851;1739853;1739857;1739859;1757693;1757799;1851313;2153491;2160666;2182364;2217434;5037552;5119292 D12S1509;D12S1511;D12S1521;D12S1523;D12S1549;D12S1550;D12S1552;D12S1555;D12S1556;D12S1557;D12S1561;D12S1562;D8S2279;HMGA2_3902;RH48124;RH69419;SHGC-146271;SHGC-146550;STS-L44578 BABL;HMGI-C;HMGIC;LIPO;STQTL9 High-mobility group protein HMGI-C;OTTHUMP00000239770;OTTHUMP00000239772;OTTHUMP00000239774;OTTHUMP00000239775;OTTHUMP00000239776;OTTHUMP00000239777;OTTHUMP00000239778;high mobility group AT-hook protein 2;high mobility group protein HMGI-C;high-mobility group (nonhistone chromosomal) protein isoform I-C APPROVED protein-coding ENSG00000149948 5009 02827 150699;600698 REVIEWED 4145220 HMGB1P16 high mobility group box 1 pseudogene 16 X X X p21.1 40356829 40357447 + 36139152 36139776 + 36229231 36229849 + 12727900 646577 ABBA01073548;AL606467;AMYH01022206;NG_022656 APPROVED pseudo 39098 INFERRED 6769423 HMGB1P21 high mobility group box 1 pseudogene 21 5 77940065 77940668 - 12727900 100419947 ABBA01061999;AC010252;AMYH01015432;NG_024603 1722729 G60302 pseudo 39106 INFERRED 6483724 HMGB1P22 high mobility group box 1 pseudogene 22 5 q23.2 124600956 124601495 + 12727900 644659 ABBA01068913;AC109471;AC114318;AMYH01015596;NG_021896 1696586;1715091;1723721;1726799;2152692 G62789;L28223;RH119497;RH121431;SHGC-78784 pseudo 39107 INFERRED 5490924 HMGB1P19 high mobility group box 1 pseudogene 19 8 124135350 124135924 + 12727900 100419979 ABBA01037866;AC100873;AMYH01019003;NG_026129 pseudo 39101 INFERRED 6480879 HMGB1P23 high mobility group box 1 pseudogene 23 8 29076422 29076989 + 12727900 100873891 ABBA01005615;AC103830;AMYH01018609;NG_032226 pseudo 39114 INFERRED 5132780 HMGB1P24 high mobility group box 1 pseudogene 24 17 17 32323119 32323755 - 35500579 35501215 - 12727900 100420063 ABBA01012437;AC016482;AMYH01008361;NG_026178 1656653;1772194;5093206 A009J24;G32583;WI-14928 pseudo 39115 INFERRED 4145241 HMGB1P25 high mobility group box 1 pseudogene 25 2 2 2 p25.1 9072951 9073587 - 9075868 9076479 - 9158392 9159028 - 12727900 644651 ABBA01015574;AC112723;AMYH01010092;NG_021494 APPROVED pseudo 39116 INFERRED 4145180 HMGB1P26 high mobility group box 1 pseudogene 26 1 1 1 q42.13 203108820 203109472 - 227896020 227908233 - 229840958 229841610 - 12727900 645201 ABBA01009829;AL354983;AMYH01001811;NG_022758 1762047;1780026 SHGC-145960;SHGC-154286 APPROVED pseudo 39117 INFERRED 4145240 HMGB1P20 high mobility group box 1 pseudogene 20 6 6 p12.1 53208378 53209000 - 53099789 53101124 - 12727900 100128227 ABBA01050542;AL512378;AMYH01016358;NG_028948 APPROVED pseudo 39103 INFERRED 4145157 HMGB1P28 high mobility group box 1 pseudogene 28 4 4 p13 41536661 41540724 - 41843632 41846069 - 12727900;9847074 100133310 ABBA01014276;ABBA01014277;AC108210;AMYH01014132;NG_029031 APPROVED pseudo 39119 INFERRED 6480889 HMGB1P29 high mobility group box 1 pseudogene 29 5 123556272 123556770 - 12727900 100873892 ABBA01068933;AC022449;AMYH01015593;NG_032227 pseudo 39120 INFERRED 1349227 HMGB1P3 high mobility group box 1 pseudogene 3 2 2 2 q35 225155949 225157290 + 231087820 231089160 + 231379576 231380916 + 10766566;9925949 10356 ABBA01050126;AC010149;AF076675;AMYH01011550;NG_000883;NG_029842 1794794 PMC56901P1 HMG1L3;HMGB1L3 APPROVED pseudo 4995 INFERRED 4890233 HMGB1P27 high mobility group box 1 pseudogene 27 2 192038959 192039561 + 12727900 100527948 ABBA01062395;AC079777;AMYH01011350;NG_027985 APPROVED pseudo 39118 INFERRED 1347672 HMG20B high mobility group 20B 19 19 p13.3 3523943 3530081 + 3572943 3579081 + 6480464 17961134;15489334;15057824;14702039;12809554;12493763;12477932;12083780;12083779;12032298;11997092;11207365;10773667;10486208;12234937;16169070;15325272;16189514;20530487;16079794;16140033;21832049;22939629;21399666;19471022;21693764;22570500 10362 B5MDG7;C9J8X5;C9JQA7;C9K049;F8WES5;K7EJR8;Q9P0W2 ABBA01002832;ABBA01002833;AC005786;AC116968;AF072165;AF072836;AF146223;AF288679;AF318366;AF331191;AK090733;AK129638;AK289500;AK310601;AK314201;AL355691;AL355702;AL355703;AL355709;AMYH01009313;AMYH01009314;BC002552;BC003505;BC004408;BC021585;BC134413;BI561304;CH471139;CR456754;NM_006339 AAC26860;AAC62837;AAF66707;AAF76253;AAG01174;AAG60060;AAH02552;AAH03505;AAH04408;AAH21585;AAI34414;AAL55873;ABZ92463;BAC03510;BAF82189;CAB90809;CAG33035;EAW69306;EAW69307;EAW69308;NP_006330;Q9P0W2 Hs.406534 1673457;1778897;2166659 RH41867;RH44855;STS-H97929 BRAF25;BRAF35;FLJ26127;HMGX2;HMGXB2;PP7706;SMARCE1r;SOXL;pp8857 BRCA2-associated factor 35;HMG box domain containing 2;HMG box-containing protein 20B;HMG domain-containing protein 2;HMG domain-containing protein HMGX2;OTTHUMP00000197361;OTTHUMP00000197362;OTTHUMP00000197364;SMARCE1-related protein;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1-related;Sox-like transcriptional factor;high-mobility group 20B;structural DNA-binding protein BRAF35 APPROVED protein-coding ENSG00000064961 5002 05703 605535 VALIDATED 6480891 HMGB1P30 high mobility group box 1 pseudogene 30 3 148542569 148543174 - 12727900 100873893 ABBA01058951;AC024897;AMYH01013568;NG_032228 pseudo 39121 INFERRED 6480882 HMGB1P31 high mobility group box 1 pseudogene 31 2 54278471 54278897 + 12727900 100873894 ABBA01075248;AC008280;AMYH01010357;NG_032229 pseudo 39122 INFERRED 5490920 HMGB1P32 high mobility group box 1 pseudogene 32 X 97677133 97677740 + 12727900 100419995 ABBA01064382;AL357312;AMYH01022706;NG_026863 pseudo 39123 INFERRED 1350467 HMG20A high mobility group 20A 15 15 15 q24 54651392 54716096 + 75500298 75565000 + 77713243 77777945 + 1580863;6480464 16189514;10773667;18029348;15489334;15231748;14702039;12477932;8125298;21490949;20531441;20530487;16140033;16751776;20211142;19322201;21874001;22693455;22570500 10363 H0YK55;H0YKL0;H0YKM5;H0YM80;H0YMG2;H0YMS9;H0YNS8;Q9NP66 AB073664;ABBA01060566;AC090984;AF146222;AK001601;AK025664;AK096546;AK223100;AK297449;AK316281;AL355733;AL355737;AL355739;AL832087;AMYH01006828;BC021959;BT006716;CH471136;NM_018200 AAF66706;AAH21959;AAP35362;BAA91782;BAD96820;BAG59873;BAH14652;CAB90816;EAW99201;EAW99202;EAW99203;NP_060670;Q9NP66 Hs.744173 1763551;2109395;2126632;2182038 D15S739;HMG20A_9095;SGC32715;SHGC-147252 FLJ10739;HMGX1;HMGXB1 HMG box domain containing 1;HMG box-containing protein 20A;HMG domain-containing protein 1;HMG domain-containing protein HMGX1;OTTHUMP00000184900;high mobility group protein 20A;high-mobility group 20A APPROVED protein-coding ENSG00000140382 5001 16116 605534 PROVISIONAL 5490925 HMGB1P35 high mobility group box 1 pseudogene 35 5 76442393 76442982 + 12727900 100419950 ABBA01061979;AC008581;AMYH01015426;NG_024688 2130570 L28304 pseudo 39175 INFERRED 4889676 HMGB1P36 high mobility group box 1 pseudogene 36 3 3 70729930 70730649 + 70803005 70803724 + 12727900 100419968 ABBA01030923;AC096971;AMYH01013266;NG_025706 APPROVED pseudo 39176 INFERRED 6480881 HMGB1P38 high mobility group box 1 pseudogene 38 3 80006716 80007292 - 12727900 100873895 ABBA01031035;AC023122;AMYH01013302;NG_032232 pseudo 39185 INFERRED 6480894 HMGB1P33 high mobility group box 1 pseudogene 33 15 56615311 56615802 + 12727900 100873905 ABBA01039006;AC068726;AMYH01006676;NG_032230 pseudo 39124 INFERRED 4888930 HMGB1P39 high mobility group box 1 pseudogene 39 6 6 76422106 76423055 - 76028748 76029696 - 12727900 100419972 ABBA01040356;AL589649;AMYH01016438;NG_025834 APPROVED pseudo 39186 INFERRED 6480880 HMGB1P41 high mobility group box 1 pseudogene 41 8 81724377 81724816 - 12727900 100873896 ABBA01004058;AC024367;AMYH01018828;NG_032233 pseudo 39188 INFERRED 4889048 HMGB1P37 high mobility group box 1 pseudogene 37 9 9 9 q33.2 94930625 94931182 - 123321456 123322530 - 124282131 124282688 - 12727900 100132863 ABBA01016228;AL359644;AMYH01021692;NG_021636 APPROVED pseudo 39184 INFERRED 6480892 HMGB1P42 high mobility group box 1 pseudogene 42 11 120806737 120807361 - 12727900 100873906 ABBA01031314;AMYH01004091;AP001929;NG_032234 pseudo ENSG00000254735 39189 INFERRED 4890115 HMGB1P34 high mobility group box 1 pseudogene 34 14 14 48141277 48141887 + 68082201 68082811 + 12727900 100420100 ABBA01023707;AL132640;AMYH01005815;NG_027382 APPROVED pseudo 23342 INFERRED 4889052 HMGB1P40 high mobility group box 1 pseudogene 40 11 11 p15.1 20689941 20729600 + 20595728 20596909 + 11181995;12727900 100506595 ABBA01061029;AC090707;AC108005;AMYH01003435;CH471064;NG_027946 EAW68331;EAW68332 high mobility group protein B1-like;high-mobility group box 1 pseudogene 40 APPROVED pseudo 39187 INFERRED 4888928 HMGB1P43 high mobility group box 1 pseudogene 43 15 15 61910188 61910813 - 85483738 85484363 - 12727900 100420041 ABBA01052950;AC087468;AMYH01006872;NG_025349 APPROVED pseudo 39191 INFERRED 4889265 HMGB1P45 high mobility group box 1 pseudogene 45 1 1 1 p32.3 49150432 49150940 - 50637118 50638032 - 50864534 50865042 - 12727900 100129919 ABBA01074829;AL596275;AMYH01000606;NG_022721 APPROVED pseudo 39277 INFERRED 6480883 HMGB1P47 high mobility group box 1 pseudogene 47 5 50705451 50706039 - 12727900 100873897 ABBA01015707;AC010478;AC091860;AMYH01015075;NG_032241 pseudo 39280 INFERRED 4889251 HMGB1P44 high mobility group box 1 pseudogene 44 4 4 4 q21.1 76186017 76186607 + 79104118 79104711 + 78885094 78885684 + 12727900 100130279 ABBA01063376;AC114801;AMYH01014322;NG_022063 APPROVED pseudo 39275 INFERRED 1346593 HMGB1P4 high mobility group box 1 pseudogene 4 2 2 2 q32 165074744 165075384 - 171166419 171166984 - 171456651 171458894 - 9925949;9847074;21906983 10355 Q75MM1 ABBA01014913;AC007277;AF076676;AMYH01011256;NG_004767 AAF19244 HMG1L4;HMG1L4P;HMGB1L4 APPROVED pseudo 4996 INFERRED 1353312 HMGB1P6 high mobility group box 1 pseudogene 6 15 15 15 q23 48346862 48348702 - 69242643 69244967 - 71456011 71457851 - 6480464 9925949;12727900 645292 ABBA01038749;AC068181;AF076678;AMYH01006750;NG_006664 HMG1L6;HMGB1L6 APPROVED pseudo 4998 INFERRED 1345412 HMGB1P5 high mobility group box 1 pseudogene 5 3 3 3 p24 22359285 22360478 + 22398165 22399361 + 22423161 22424357 + 10591208;9925949;8439568 10354 ABBA01025056;AC121253;AF076677;AMYH01013025;L08048;NG_000897 AAA64970 HMG-1;HMG1L5;HMGB1L15;HMGB1L5;HMGB1P2 APPROVED pseudo 4997 INFERRED 4889369 HMGB1P48 high mobility group box 1 pseudogene 48 1 1 1 p34.1 44280577 44281788 + 45769186 45770398 + 45996494 45998295 + 12727900 100128639 ABBA01050865;AL355480;AMYH01000574;NG_028928 FLJ33084 APPROVED pseudo 39281 INFERRED 4888929 HMGB1P7 high mobility group box 1 pseudogene 7 10 10 31967207 31967812 + 32202077 32202682 + 12727900 100420044 ABBA01033395;AL390715;AMYH01002222;NG_025482 APPROVED pseudo 39096 INFERRED 1605444 HMGB1P8 high mobility group box 1 pseudogene 8 15 15 15 q22 66079589 66081202 - 87479302 87480910 - 89678298 89679906 - 12727900 692147 ABBA01053004;AC013565;AF165167;AMYH01006912;NG_005579 HMG1L8;HMGB1L8 APPROVED pseudo 13319 INFERRED 1605140 HMGB1P9 high mobility group box 1 pseudogene 9 2 2 2 q35 212831575 212833149 + 218773244 218774818 + 219064999 219066573 + 12727900 654503 ABBA01023877;AC097483;AF165168;AMYH01011494;NG_005481 HMG1L9;HMGB1L9 APPROVED pseudo 13320 INFERRED 4889250 HMGB1P49 high mobility group box 1 pseudogene 49 12 12 33000862 33001429 + 27855271 27855839 + 12727900 100420013 ABBA01068049;AC009509;AMYH01004351;NG_024073 APPROVED pseudo 39282 INFERRED 4889253 HMGB1P46 high mobility group box 1 pseudogene 46 8 8 104372218 104372828 - 108185427 108186037 - 12727900 100419978 ABBA01037695;AMYH01018954;AP000428;NG_026068 APPROVED pseudo 39279 INFERRED 4889278 HMGB3P11 high mobility group box 3 pseudogene 11 2 2 2 q12.1 99588958 99589522 + 104754173 104754779 + 105387741 105388305 + 12727900 644442 ABBA01073875;AC068057;AMYH01010831;NG_021574 2182228 D2S1321 APPROVED pseudo 39303 INFERRED 4889294 HMGB3P10 high mobility group box 3 pseudogene 10 1 1 1 p21.2 98418645 98419635 + 99936383 99937364 + 100163796 100164757 + 12727900 100129320 ABBA01045449;AC105270;AMYH01000824;NG_028926 APPROVED pseudo 39302 INFERRED 4770550 HMGB2P1 high mobility group box 2 pseudogene 1 19 19 19 p13.3 1137439 1138050 + 1154208 1154822 + 1203208 1203819 + 729119 ABBA01002629;AC011544;AMYH01009230;NG_007460;NG_021754 APPROVED pseudo 39174 INFERRED 6480886 HMGB3P12 high mobility group box 3 pseudogene 12 3 26257813 26258368 + 12727900 100873898 ABBA01025009;AC139932;AMYH01013038;NG_032245 pseudo 39304 INFERRED 6480887 HMGB3P14 high mobility group box 3 pseudogene 14 3 133889331 133889929 + 12727900 100873899 ABBA01059159;AC107310;AMYH01013512;NG_032246;NG_032937 pseudo 39306 INFERRED 4889284 HMGB3P13 high mobility group box 3 pseudogene 13 3 3 q22.2 132582727 132583312 + 134156448 134157033 + 12727900 100289158 ABBA01059155;AC010207;AMYH01013514;NG_022274 APPROVED pseudo 39305 INFERRED 6480884 HMGB3P16 high mobility group box 3 pseudogene 16 5 111788400 111788686 - 12727900 100873900 ABBA01069056;AC129471;AMYH01015547;NG_032247 pseudo 39308 INFERRED 4889256 HMGB3P17 high mobility group box 3 pseudogene 17 5 5 118759802 118760433 - 122804492 122805123 - 12727900 100419948 ABBA01068940;AC106792;AMYH01015590;NG_024626 APPROVED pseudo 39309 INFERRED 4889266 HMGB3P18 high mobility group box 3 pseudogene 18 6 6 6 q22.31 122923947 122924533 - 122221024 122221613 - 122179328 122179914 - 12727900;23183192 644502 ABBA01025986;AMYH01016634;NG_022325;Z93931 APPROVED pseudo 39310 INFERRED 4889277 HMGB3P15 high mobility group box 3 pseudogene 15 4 4 4 q22.3 92413754 92414327 - 95317903 95337829 - 95117091 95117664 - 12727900 644429 ABBA01063619;AC096746;AMYH01014403;NG_022021 APPROVED pseudo 39307 INFERRED 4889224 HMGB3P19 high mobility group box 3 pseudogene 19 6 6 6 q25.2 154994047 154994597 - 154301252 154336328 - 154259595 154260145 - 12727900 729635 ABBA01025602;AL136094;AMYH01016755;NG_022333 2134839 333TE5 APPROVED pseudo 39311 INFERRED 1348853 HMGB3P2 high mobility group box 3 pseudogene 2 20 20 20 q11.23 31412708 31413288 - 34127257 34128037 - 34663943 34664523 - 12727900 128879 ABBA01019130;AL035420;AMYH01011878;NG_000979 HMG4L2;HMGB3L2;dJ550H1.1 APPROVED pseudo 16574 INFERRED 6480890 HMGB3P21 high mobility group box 3 pseudogene 21 7 96764327 96764873 - 12727900 100873901 AACC02000013;ABBA01045754;AC073421;AMYH01017706;CH236949;NG_032248 pseudo 39313 INFERRED 4889225 HMGB3P22 high mobility group box 3 pseudogene 22 5 5 5 q35.3 174746298 174746843 + 179053804 179054409 + 179121179 179121816 + 12727900 729595 ABBA01010032;AC113426;AMYH01015957;NG_028953 1656257 STS-H08168 high mobility group box 3 pseudogene 22;high mobility group protein B3-like;high-mobility group box 3 pseudogene 22 APPROVED pseudo 39314 INFERRED 4889362 HMGB3P23 high mobility group box 3 pseudogene 23 9 9 p21.1 31574013 31574948 - 31643343 31645182 - 12727900 100288563 ABBA01065091;AL353728;AMYH01019319;NG_028956 APPROVED pseudo 39315 INFERRED 4889379 HMGB3P24 high mobility group box 3 pseudogene 24 9 9 9 p13.2 36237100 36238527 - 36292889 36294921 - 36302685 36305013 - 12727900 646993 ABBA01050430;AL161792;AMYH01019348;NG_029027 1738245 D9S1209 high mobility group box 3 pseudogene 24;high mobility group protein B3-like;high-mobility group box 3 pseudogene 24 APPROVED pseudo 39316 INFERRED 4889282 HMGB3P20 high mobility group box 3 pseudogene 20 7 7 7 p15.2 27011343 27011906 - 26988912 27001361 - 27022423 27022986 - 12727900 442661 AACC02000007;ABBA01056754;AC073472;AMYH01017130;CH236948;NG_022531 1799652;1810772;1811002;1812382;1814692;1815090;1816758;1825356;1826690;1836142;1837088;1837658;1844458;1846514;2057420;2057422;2057424;2057426;2057428;2057430;2057432;2057434;2057436;2057438;2057440;2057442;2057444;2057446;2057448;2057450;2057452;2057454;2057456;2057458;2057460;2057462;2057464;2057466;2057468;2057470;2057472;2057474;2057476;2057478;2057480;2057482;2057484;2057486;2057488;2057490;2057492;2057494;2057496;2057498;2057500;2057502;2057504;2057506;2057508;2057510;2057512;2057514;2057516;2057518;2057520;2057522;2057524;2057526;2057528;2057530;2057532;2057534;2057536;2057538;2057540;2057542;2115849;2191976;2191978;2191980;2191982;2191984;2191986;2191988;2191990;2191992;2191994;2191996 D7S1457;ECD00680;ECD06384;ECD06499;ECD07198;ECD08377;ECD08578;ECD09424;ECD13784;ECD14459;ECD19232;ECD19709;ECD19996;ECD23443;ECD24478;REN99878;REN99879;REN99880;REN99881;REN99882;REN99883;REN99884;REN99885;REN99886;REN99887;REN99888;REN99889;REN99890;REN99891;REN99892;REN99893;REN99894;REN99895;REN99896;REN99897;REN99898;REN99899;REN99900;REN99901;REN99902;REN99903;REN99904;REN99905;REN99906;REN99907;REN99908;REN99909;REN99910;REN99911;REN99912;REN99913;REN99914;REN99915;REN99916;REN99917;REN99918;REN99919;REN99920;REN99921;REN99922;REN99923;REN99924;REN99925;REN99926;REN99927;REN99928;REN99929;REN99930;REN99931;REN99932;REN99933;REN99934;REN99935;REN99936;REN99937;REN99938;REN99939;stSG609237;stSG609238;stSG609239;stSG609240;stSG609241;stSG609242;stSG609243;stSG609244;stSG609245;stSG609246;stSG609248 APPROVED pseudo 39312 INFERRED 6480893 HMGB3P25 high mobility group box 3 pseudogene 25 11 87191803 87192355 - 12727900 100873908 ABBA01017308;AMYH01003858;AP003497;NG_032249 pseudo 39317 INFERRED 1345409 HMGA1 high mobility group AT-hook 1 This gene encodes a non-histone protein involved in many cellular processes, including regulation of inducible gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of A+T-rich regions in double-stranded DNA. It has little secondary structure in solution but assumes distinct conformations when bound to substrates such as DNA or other proteins. The encoded protein is frequently acetylated and is found in the nucleus. At least seven transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 p21 34312628 34321986 + 34204577 34214008 + 1580863;6480464;6484113;7240710 10428834;16157300;12091904;16291214;10871404;15609325;12228227;15479846;19266077;19223528;19074878;19060921;18670638;18473350;18391951;18316571;18279675;18202751;17935122;17903177;17877762;17723105;17654722;17616660;17550233;17434141;17290307;17178855;17081983;17045586;16344560;16256199;16189514;16166307;16033759;15901130;15893306;15835918;15631895;15591590;15569996;15489334;15378028;15350136;15302935;15247513;15213251;14960313;14729942;14702039;14611647;13680222;12761578;12700639;12665574;12653562;12477932;12097287;12002338;11978964;11834421;11593421;11498590;11406267;11279116;11076660;11069991;11034995;10891489;10713105;10428837;10428836;10428835;10357819;10074149;9751634;9545312;9388234;9253416;9188609;9038339;8414980;7862168;7791781;3619901;2920035;2806554;2701943;2505228;1939057;1692833;16403635;16075307;15875659;15924147;22249617;22139073;22564666;19913121;20546612;20628086;21329653;21138859;20397748;16293633;17960875;19250063;19343178;19396169;19609535;19687300;19729480;19739099;19820691;19848064;19893584;19903768;19956671;20004941;20189936;20194618;20201926;20379614;20335021;20530667;20347905;18817785;19759913;20935630;21089648;21156240;16204234;22745191;22932725;20975707;18310298;21364139;10889043;9809067;9823775;17005673;19465398;16901784;21300033;21282977;23302499;22898640;22939629;20360068;21087998;21573994;22210315;21139048;21906983;21656127;21957495;22411136;18234858;22156211;22106824;21984063;21998595;22214847;22318606;22379092;20881960;22221703;23166588;22332738;21319273;22199144;19738201;22113938;22939624;23000965;23149213;18850631;23201162;23398456;23545254;19454010;19750561;22505724;22503056;22392906 3159 H7BYM6;P17096;Q5T6U8 ABBA01038179;ABBA01038180;AF176039;AK096863;AK130027;AK301434;AK308245;AL354740;AMYH01016254;AMYH01016255;BC004924;BC008832;BC008963;BC015789;BC063434;BC067083;BC071863;BC071864;BT006774;CH471081;DA049639;DA574958;DC338100;DC374225;HI519558;L17131;M23614;M23615;M23616;M23617;M23618;M23619;NG_029020;NM_002131;NM_145899;NM_145901;NM_145902;NM_145903;NM_145905;X14957;X14958 AAA35998;AAA88072;AAA88073;AAA88074;AAA88075;AAA88076;AAB00145;AAD53889;AAH04924;AAH08832;AAH15789;AAH63434;AAH67083;AAH71863;AAH71864;AAP35420;ABM84023;ABW03568;BAC85280;BAG62962;CAA33080;CAA33081;CBX54360;EAX03762;EAX03763;EAX03764;EAX03765;EAX03766;EAX03767;EAX03768;EAX03769;EAX03770;EAX03771;EAX03772;EAX03773;EAX03774;NP_002122;NP_665906;NP_665908;NP_665909;NP_665910;NP_665912;P17096 Hs.518805;Hs.703764 2189327;5113465;5123024 G11813;MARC_1047-1048:991929773:1;RH46847 HMG-R;HMGA1A;HMGIY;MGC12816;MGC4242;MGC4854 HMG-I(Y);OTTHUMP00000016222;OTTHUMP00000016223;OTTHUMP00000016224;high mobility group AT-hook protein 1;high mobility group protein A1;high mobility group protein HMG-I/HMG-Y;high mobility group protein R;high-mobility group (nonhistone chromosomal) protein isoforms I and Y;nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y APPROVED protein-coding ENSG00000137309 5010 02829 125853;600701 REVIEWED 4889247 HMGB3P26 high mobility group box 3 pseudogene 26 14 14 14 q32.32 83884791 83885345 - 102900329 102900910 - 103830603 103831157 - 12727900 100130405 ABBA01048430;AL133367;AMYH01006045;NG_022849 APPROVED pseudo 39318 INFERRED 1605729 HMGB1 high mobility group box 1 13 13 q12 29930877 29938081 - 31032877 31040081 - 2306716;6480464;6907045 18157157 21099216;18680137;15766246;15210788;11246022;11748232;16130169;9600082;8006019;12925773;18029348;19476625;19445369;19417608;19223331;19201506;19197071;19158276;19151394;19148477;19139725;19044016;19009026;19005067;18996119;18984601;18974890;18952078;18949384;18846108;18825712;18825489;18822317;18768881;18720262;18715162;18692049;18682735;18670905;18644848;18631454;18599803;18577209;18569640;18441281;18431589;18425372;18354232;18346273;18317568;18294942;18288272;18277058;18250463;18239618;18076993;17991152;17975708;17958791;17936030;17918013;17895302;17678959;17617154;17610420;17597834;17504981;17502242;17475879;17346334;17218606;17203009;17142771;17060403;17035340;16997939;16997859;16968820;16966386;16962095;16951227;16916647;16855214;16807371;16802368;16751357;16697213;16570276;16282196;16267105;16169070;16040616;15994314;15944249;15924431;15915542;15802534;15793304;15743787;15733057;15666359;15496585;15489334;15488733;22127462;21146549;21520052;19777384;21617715;15201494;15162419;15146429;15130941;15014079;14999020;14739282;14702039;14534709;14532127;14517071;12799451;12785009;12759333;12727838;12665595;12620891;12604365;12565837;12534345;12488489;12477932;12456506;12384917;12231511;12149489;12110890;12062430;11748221;11470162;11299752;11294645;11279268;11099378;10962007;10652254;10617144;10490593;9880542;9812979;9722660;9671457;9628821;9507007;9472015;9150946;9036861;8890171;8661151;8366113;3697355;2922262;1909331;18655026;11106654;21120500;22484401;21435605;15877951;18239742;18707018;18759291;18788635;19150066;19214652;19247800;19387923;19398086;19446504;19451748;19515846;19530996;19533845;19545550;19564572;19571604;19572890;19616266;19639200;19666121;19679874;19726280;19751520;19786934;19800306;19811284;19819342;19837864;19841752;19876719;19887013;19930620;19948257;19962765;20007974;20044610;20110525;20123074;20123075;20123076;2013279;20185963;20193282;20207250;20231695;20419158;9166431;20414834;17403666;21198433;18073062;20200191;20350435;20799933;19933377;20579387;20622903;20659154;20430742;20302902;18799030;20510002;20959471;10531386;20936104;20846416;12935895;20723409;20812762;20826760;21116278;20927132;21042739;21211520;20980161;21093407;21303685;21365018;15005629;21092200;22644337;22672360;22922889;23055574;23118492;22983919;22348591;23157129;23213216;18160415;22780932;21443191;21283827;21052685;21642542;19087540;21442152;21532866;21650061;21691146;21871094;21989210;22020142;21752923;22884669;21457800;12517784;21900206;21944254;21380479;22189943;22248244;22370717;12591939;21457762;21947243;22025513;22102692;20844833;21151833;20360068;21825870;21044333;21940680;21957148;21990362;23328212;21241404;22108005;21139048;21788990;21890473;21906983;22931605;23063560;23207101;22306257;23231044;23628898;21366949;21617575;21944908;22012330;22231645;22275109;22578261;21044950;21181308;22105604;22496788;22552293;21864037;19471022;21743489;21860212;21914366;21915243;21926646;22047946;22189477;22369934;21968272;22345153;21656024;22394598;21395369;21548924;21958433;22110531;22127490;21953322;22237993;22265157;22293756;22333024;22361176;22379092;22521432;22842346;21163940;22549347;22782142;22909167;22939629;22331597;22549180;19505873;21319273;22609241;23616573;19738201;21963094;22623428;22862965;23000965;23260004;23288170;23023232;22544356;22928592;23122444;23649808;22960399;23269659;23269975;23325855;23384711;23255728;23284878;23447529;22883976;18850631;23317219;22696656;22703527;22750245;22473704;22505724;22391561;22932142;8339930;22747650;23204053 3146 P09429;Q5T7C0;Q5T7C4;Q5T7C6 AA430980;AB208998;ABBA01035698;ABBA01035699;AF255609;AF281043;AK057120;AK122825;AK291494;AK304506;AK310975;AL110194;AL353648;AMYH01005008;AMYH01005009;AY377859;BC003378;BC030981;BC066889;BC067732;BC141844;BT006940;BT020159;BX647267;CH471075;CR456863;CR749614;D63874;EF157968;EU012027;L13804;L13805;NM_002128;U51677;X12597 AAB08987;AAF71287;AAH03378;AAH30981;AAH66889;AAH67732;AAI40014;AAI40019;AAI41845;AAK64599;AAP35586;AAQ91389;AAV38961;ABM47301;ABS29271;BAA09924;BAD92235;BAF84183;BAG51867;BAG53745;BAH14201;CAA31110;CAG33144;CAH18408;EAX08457;EAX08458;EAX08459;EAX08460;EAX08461;EAX08462;NP_002119;P09429 Hs.434102;Hs.593339;Hs.596078 1645149;1679243;1756101;5117434 GDB:554977;RH91371;SHGC-142889;STS-N92507 DKFZp686A04236;HMG1;HMG3;SBP-1 Amphoterin;HMG-1;OTTHUMP00000018196;OTTHUMP00000018197;OTTHUMP00000018198;OTTHUMP00000018199;OTTHUMP00000190859;OTTHUMP00000190860;OTTHUMP00000200117;Sulfoglucuronyl carbohydrate binding protein;high mobility group box 1;high mobility group protein 1;high mobility group protein B1;high-mobility group (nonhistone chromosomal) protein 1;high-mobility group box 1 APPROVED protein-coding 4983 01228 163905 VALIDATED 4889366 HMGB3P27 high mobility group box 3 pseudogene 27 17 17 q21.2 38047830 38054345 + 40794304 40800819 + 12727900;16625196 441795 P0C6E5 ABBA01006415;AC067852;AMYH01008395;NG_028178 P0C6E5 Putative high mobility group protein B3-like protein;high mobility group protein B3-like protein-like;high-mobility group box 3 pseudogene 27 APPROVED pseudo 39319 INFERRED 4889673 HMGB3P29 high mobility group box 3 pseudogene 29 19 19 17429579 17430836 - 17527840 17529097 - 12727900 100420015 ABBA01051200;AC010319;AMYH01009573;NG_024158 APPROVED pseudo 39321 INFERRED 5490926 HMGB3P3 high mobility group box 3 pseudogene 3 5 6289920 6290726 + 12727900 100419949 ABBA01016143;AC091988;AMYH01014878;NG_024651 pseudo 39102 INFERRED 4889223 HMGB3P28 high mobility group box 3 pseudogene 28 18 18 18 p11.21 12331322 12331881 + 12440446 12441056 + 12450446 12451005 + 12727900 100131036 ABBA01074020;AMYH01008836;AP001029;NG_022487 1684379;1734574;2118161 D18S895E;D18S935E;RH8155 APPROVED pseudo 39320 INFERRED 4889698 HMGB3P32 high mobility group box 3 pseudogene 32 16 57637010 57639448 + 12727900 100507549 ABBA01025276;ABBA01025277;AC018552;AMYH01007704;NG_028971 APPROVED pseudo 39335 INFERRED 6480888 HMGB3P4 high mobility group box 3 pseudogene 4 13 100024427 100024940 + 12727900 100873890 ABBA01027122;AL136961;AMYH01005326;NG_032225 pseudo 39104 INFERRED 4146228 HMGB3P5 high mobility group box 3 pseudogene 5 10 10 10 q25.2 105942014 105942589 + 112200377 112201051 + 112210387 112210962 + 12727900 645360 ABBA01063030;AL355512;AMYH01003062;NG_022191 APPROVED pseudo 39105 INFERRED 4889693 HMGB3P31 high mobility group box 3 pseudogene 31 X X X q26.3 134482540 134483102 - 133923376 133924004 - 134095776 134096338 - 12727900 392545 ABBA01042511;AMYH01022996;NG_022638;Z83826 1702306 DXS902 APPROVED pseudo 39334 INFERRED 4889252 HMGB3P7 high mobility group box 3 pseudogene 7 13 13 83297009 83297540 + 102454228 102454759 + 12727900 100420033 ABBA01027080;AL160153;AMYH01005338;NG_024948 APPROVED pseudo 39299 INFERRED 4889390 HMGB3P8 high mobility group box 3 pseudogene 8 10 q25.3 118198717 118199579 - 12727900 100506039 ABBA01062959;AC011328;AMYH01003095;NG_028968 APPROVED pseudo 39300 INFERRED 6480885 HMGB3P9 high mobility group box 3 pseudogene 9 1 93112605 93113187 - 12727900 100873879 ABBA01045538;AC104332;AMYH01000799;NG_032244 pseudo 39301 INFERRED 4889218 HMGB3P6 high mobility group box 3 pseudogene 6 1 1 1 q23.3 137431212 137431812 + 162592531 162594081 + 164326004 164326604 + 12727900 729952 ABBA01047290;AL357512;AMYH01001468;NG_022815 APPROVED pseudo 39283 INFERRED 4889695 HMGB3P30 high mobility group box 3 pseudogene 30 X X X q23 112418383 112419135 + 111819799 111820404 + 111933120 111933872 + 12727900 203510 ABBA01043143;AL034450;AMYH01022846;CH471120;NG_022892 EAX02628 1852205 AL008892 APPROVED pseudo 39333 INFERRED 1354014 HMGB3P1 high mobility group box 3 pseudogene 1 20 20 20 q11.22 30170474 30171361 - 32885039 32885926 - 33421378 33422265 - 12477932;12727900;21145461;22318606 128872 ABBA01019180;AL049709;AMYH01011867;BC103849;BC103850;BC103851;NR_002165 Hs.558624 5037552;5492835 D8S2279;UniSTS:482985 HMG4L;HMGB3L1;MGC118987;MGC118988;MGC118989;dJ18C9.3 APPROVED pseudo 16240 VALIDATED 1350742 HMGB3 high mobility group box 3 HMGB3 belongs to the high mobility group (HMG) protein superfamily. Like HMG1 (MIM 163905) and HMG2 (MIM 163906), HMGB3 contains DNA-binding HMG box domains and is classified into the HMG box subfamily. Members of the HMG box subfamily are thought to play a fundamental role in DNA replication, nucleosome assembly and transcription (Wilke et al., 1997 [PubMed 9370291]; Nemeth et al., 2006 [PubMed 16945912]).[supplied by OMIM, Mar 2008] X X X q28 150399636 150407102 + 149902421 149909906 + 150151763 150159248 + 1580863;6480464 9598312;16945912;16381901;15772651;15489336;15489334;12477932;11076863;9370291;2350545;1572546;19505873;21145461;22863883;22241470;21044950;21139048;21890473;21906983 3149 E7EQU1;E7ES08;E9PES6;O15347 ABBA01037180;ABBA01037181;AF003626;AMYH01023218;AMYH01023219;BC007608;BC010378;BC012370;BC037210;BC070482;BX537505;CH471169;DN996967;L05085;NM_005342;Y10043 AAC15850;AAH70482;ABZ92037;CAA71143;CAD97768;CAL38124;CAL38659;EAW99397;EAW99398;NP_005333;O15347 Hs.19114 1652260;1659686;1678647;1693528;1754559;2219802;5014329;5022322;5037552;5038356;5106373 D11S2560;D8S2279;ECD09851;HMGB3__6575;REN99877;RH45008;RH98216;SHGC-132841;SHGC-53292;SHGC-58788;STS-Z40721 HMG-2a;HMG-4;HMG2A;HMG4;MGC90319 HMG-2a;HMG-4;OTTHUMP00000025865;OTTHUMP00000025866;OTTHUMP00000025867;OTTHUMP00000025868;high mobility group protein 2a;high mobility group protein 4;high mobility group protein B3;high-mobility group (nonhistone chromosomal) protein 4;high-mobility group box 3;non-histone chromosomal protein APPROVED protein-coding ENSG00000029993 5004 02181 300193 VALIDATED 1352812 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 6 6 6 p12.1 56960691 57105227 - 55407130 55551971 - 55299171 55444012 - 1580863;6480464 16344560;14702039;12477932;9110174;8619474;8440722;17207965;20379614;22847177;23251661;22865860 54511 B7Z212;B7Z4D4;D6RHJ2;G5E9S9;O95896;Q8TB92;Q9NT06 ABBA01050506;ABBA01050507;AF131827;AK055075;AK127587;AK293856;AK294210;AK297191;AL137605;AL590290;AL590406;AMYH01016362;AMYH01016363;BC024194;CH471081;DA508472;DB179645;NM_001042406;NM_019036 AAD20054;AAH24194;ADQ31715;BAC87045;BAG51462;BAH11613;BAH11698;BAH12520;CAB70838;EAX04442;EAX04443;EAX04444;EAX04445;NP_001035865;NP_061909;Q8TB92 Hs.147054 1679573;1681891;1682429;1753597;1755953;1761811;2182140;2219804 G17068;HMGCLL1__6577;RH66327;RH75610;RH93241;SHGC-107537;SHGC-142775;SHGC-145767 DKFZp434G1411;bA418P12.1;er-cHL 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic;3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1;3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1;OTTHUMP00000016647;OTTHUMP00000016648;OTTHUMP00000218062;OTTHUMP00000218063;OTTHUMP00000218065;endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA lyase;probable 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2 APPROVED protein-coding ENSG00000146151 21359 13663 VALIDATED 1605728 HMGB2 high mobility group box 2 This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008] 4 4 q31 174489362 174492167 - 174252527 174255595 - 6480464 1754403;1475204;8339930;11909973;9636147;1551873;9600082;15504738;7797075;12925773;18029348;19369647;19223331;19139395;17964600;17406091;16344560;16341674;15833996;15489334;14739282;14729942;12555809;12524539;12477932;12062430;11748232;11099378;10490593;9722660;9671457;8889548;8824816;7720710;3697355;18239742;19236006;19811285;19965638;20036050;8226934;978439;21209461;15005629;19505873;21319273;22644337;22863883;21832049;22939629;20851854;12517784;21890638;19322201;21139048;21906983;22242598;22345443;22505724;23143110 3148 D6R9A6;P26583 AA576809;ABBA01070372;AC097534;AK311864;AMYH01014716;AU129699;BC000903;BC001063;BC100019;BM727941;BM781845;BT019782;BT019783;CH471056;M83665;NM_001130688;NM_001130689;NM_002129;X62534;Z17240 AAA58659;AAH01063;AAI00020;AAV38585;AAV38586;ABM83214;ABM86413;BAG34805;CAA44395;CAA78938;EAX04758;EAX04759;NP_001124160;NP_001124161;NP_002120;P26583 Hs.434953 1659488;1696898;1788726;1792940;2154338;2184006;2218548;5017518 HMGB2;HMGB2_3099;PMC170950P6;RH101915;RH126943;SHGC-12669;SHGC-60210;SHGC-67901 HMG2 HMG-2;OTTHUMP00000219008;OTTHUMP00000219009;OTTHUMP00000219010;OTTHUMP00000219011;high mobility group protein 2;high mobility group protein B2;high-mobility group (nonhistone chromosomal) protein 2;high-mobility group box 2 APPROVED protein-coding 5000 01229 163906 REVIEWED 1353111 HMGN1P1 high mobility group nucleosome binding domain 1 pseudogene 1 14 14 14 q22.3 35910425 35911437 - 54930708 54931843 - 55861033 55862045 - 12727900 319131 ABBA01018207;AL356801;AMYH01005746;NG_002509 HMGN1L1 APPROVED pseudo 20015 INFERRED 6480913 HMGN1P10 high mobility group nucleosome binding domain 1 pseudogene 10 3 136327892 136328444 + 100874438 ABBA01059118;AC128712;AMYH01013522;NG_032261 pseudo 39353 INFERRED 1606732 HMGB4 high mobility group box 4 1 1 1 p35.1 32597828 32602145 + 34098663 34102979 + 34326076 34330392 + 6480464 15489334;14702039;12477932;15197164;17207965;20970119;21832049 127540 Q6NSH1;Q8WW32 ABBA01023373;AK097707;AK130859;AK310465;AK311985;AL121980;AMYH01000482;BC021180;BC070148;BI827031;BX099695;CF272581;CH471059;DQ207367;HC007024;HC044801;NM_145205;NR_033264 AAH21180;AAH70148;ABB22048;ADQ31710;BAG34924;CBH19317;CBH30730;EAX07453;NP_660206;Q8WW32 Hs.568628;Hs.667683 1681103;1733044;2190801 D1S1397;LOC127540;RH98973 FLJ40388;MGC88128;dJ1007G16.5 HMG2 like;OTTHUMP00000225047;high mobility group protein B4;high-mobility group box 4 APPROVED protein-coding ENSG00000176256 24954 14038 VALIDATED 6480897 HMGN1P13 high mobility group nucleosome binding domain 1 pseudogene 13 5 110907799 110907936 - 12727900 100874439 ABBA01069069;AC008967;AMYH01015547;NG_032262 pseudo 39357 INFERRED 6480910 HMGN1P14 high mobility group nucleosome binding domain 1 pseudogene 14 5 111181747 111182263 - 100874440 ABBA01069065;AC114297;AMYH01015547;NG_032263 pseudo 39358 INFERRED 4889694 HMGN1P11 high mobility group nucleosome binding domain 1 pseudogene 11 4 4 4 q13.1 60834314 60834616 + 63058782 63059084 + 63376075 63377287 + 12727900;9847074 644534 ABBA01022841;AC093891;AMYH01014225;NG_028944 APPROVED pseudo 39355 INFERRED 6769790 HMGN1P16 high mobility group nucleosome binding domain 1 pseudogene 16 5 147600923 147601205 - 12727900 100874442 ABBA01026318;AC011346;AMYH01015697;NG_032265 pseudo 39360 INFERRED 6769791 HMGN1P15 high mobility group nucleosome binding domain 1 pseudogene 15 5 114624733 114625027 - 12727900 100874441 ABBA01069034;AC008494;AMYH01015556;NG_032264 pseudo 39359 INFERRED 6769770 HMGN1P17 high mobility group nucleosome binding domain 1 pseudogene 17 5 55677608 55677902 + 12727900 100874443 ABBA01015762;AC034245;AMYH01015096;NG_032266 pseudo 39361 INFERRED 6769789 HMGN1P18 high mobility group nucleosome binding domain 1 pseudogene 18 7 120690981 120691257 + 12727900 100874444 AACC02000001;ABBA01057764;AC006976;AMYH01017894;CH236947;NG_032267 pseudo 39362 INFERRED 6769793 HMGN1P19 high mobility group nucleosome binding domain 1 pseudogene 19 7 46674212 46674544 + 12727900 100874445 AACC02000092;ABBA01058262;AC011294;AMYH01017224;CH236958;NG_032268 pseudo 39363 INFERRED 1353988 HMGN1P2 high mobility group nucleosome binding domain 1 pseudogene 2 21 21 21 q22.11 18262238 18262813 + 32000691 32001466 + 33078921 33079496 + 10830953;12727900 54048 ABBA01057294;AMYH01012198;AP000255;NG_000921 HMG14P;HMGN1L2 APPROVED pseudo 4985 INFERRED 6769796 HMGN1P20 high mobility group nucleosome binding domain 1 pseudogene 20 10 19778030 19778329 + 12727900 100874459 ABBA01034518;AL354695;AMYH01002160;NG_032269 pseudo 39364 INFERRED 6769799 HMGN1P22 high mobility group nucleosome binding domain 1 pseudogene 22 11 11203355 11203835 - 12727900 100874460 ABBA01061150;AC111188;AMYH01003391;NG_032270 pseudo 39366 INFERRED 6769797 HMGN1P23 high mobility group nucleosome binding domain 1 pseudogene 23 12 14344949 14345222 + 12727900 100874461 ABBA01067868;AC135001;AMYH01004300;NG_032271 pseudo 39367 INFERRED 6480926 HMGN1P24 high mobility group nucleosome binding domain 1 pseudogene 24 13 96461564 96461861 - 100874462 ABBA01027176;AL136104;AMYH01005307;NG_032272 pseudo 39368 INFERRED 4889696 HMGN1P21 high mobility group nucleosome binding domain 1 pseudogene 21 11 11 11 p15.4 4014679 4015928 - 3966052 3967509 - 4009584 4010833 - 12727900 728325 ABBA01032043;AC087441;AMYH01003348;NG_005987 2039584 REN90816 APPROVED pseudo 39365 INFERRED 4889720 HMGN1P25 high mobility group nucleosome binding domain 1 pseudogene 25 14 14 q32 81001580 81001885 + 100947218 100948415 + 100507124 ABBA01048527;AL845552;AMYH01006010;NG_028962 1674818;1774611;5093884 A009Y18;G32980;SHGC-34616 high mobility group nucleosome binding domain 1 pseudogene 25;high-mobility group nucleosome binding domain 1 pseudogene 25;non-histone chromosomal protein HMG-14-like APPROVED pseudo 39369 INFERRED 6769798 HMGN1P27 high mobility group nucleosome binding domain 1 pseudogene 27 15 77497265 77497757 + 12727900 100874463 ABBA01060563;AC087465;AMYH01006827;NG_032273 pseudo 39371 INFERRED 4889771 HMGN1P26 high mobility group nucleosome binding domain 1 pseudogene 26 15 15 15 q22.2 39534006 39534310 - 60441518 60441822 - 62653425 62654701 - 12727900 100128015 ABBA01038926;AC032011;AMYH01006698;NG_028963 APPROVED pseudo ENSG00000259557 39370 INFERRED 6769768 HMGN1P28 high mobility group nucleosome binding domain 1 pseudogene 28 17 58928743 58929106 + 12727900 100874464 ABBA01035394;AC079005;AMYH01008531;NG_032274 pseudo 39372 INFERRED 4889364 HMGN1P3 high mobility group nucleosome binding domain 1 pseudogene 3 14 14 14 q24.1 49414575 49415715 - 68423343 68424753 - 69353699 69354900 - 12727900 100036574 ABBA01023683;AL117694;AMYH01005821;NG_005988;NG_029480 APPROVED pseudo 23343 INFERRED 6483492 HMGN1P29 high mobility group nucleosome binding domain 1 pseudogene 29 17 41296973 41297272 + 12727900 100885865 ABBA01006390;AC135721;AMYH01008402;NG_032698 pseudo 39373 INFERRED 4889700 HMGN1P31 high mobility group nucleosome binding domain 1 pseudogene 31 18 18 18 q21.32 55179805 55180155 - 56612821 56613117 - 58461840 58462136 - 11181995;12727900 728111 ABBA01056178;AC113137;AMYH01009042;CH471096;NG_027983 EAW63107 hCG1659830;high-mobility group nucleosome binding domain 1 pseudogene 31 APPROVED pseudo 39375 INFERRED 6769767 HMGN1P32 high mobility group nucleosome binding domain 1 pseudogene 32 19 54271225 54271807 - 12727900 100874465 ABBA01068200;AC008753;AMYH01009965;NG_032275 pseudo 39376 INFERRED 6769795 HMGN1P33 high mobility group nucleosome binding domain 1 pseudogene 33 X 9833133 9833583 - 12727900 100874446 ABBA01070763;AC002365;AMYH01022070;NG_032276 pseudo 39377 INFERRED 6769792 HMGN1P34 high mobility group nucleosome binding domain 1 pseudogene 34 X 77775090 77775683 - 12727900 100874447 ABBA01030110;AL022150;AMYH01022637;NG_032277 pseudo 39378 INFERRED 4889750 HMGN1P30 high mobility group nucleosome binding domain 1 pseudogene 30 18 18 q21.31 53836226 53839140 - 55684889 55686293 - 12727900 100132992 ABBA01056142;AC090324;AMYH01009025;NG_027555 APPROVED pseudo 39374 INFERRED 6769794 HMGN1P35 high mobility group nucleosome binding domain 1 pseudogene 35 X 68393967 68394560 + 12727900 100874448 ABBA01067433;AL157699;AMYH01022521;NG_032278 pseudo 39379 INFERRED 4889674 HMGN1P36 high mobility group nucleosome binding domain 1 pseudogene 36 2 2 2 q11.2 92647643 92648783 + 97809947 97811352 + 98443615 98444813 + 12727900 728851 ABBA01073975;AC079337;AMYH01010795;NG_005985 APPROVED pseudo 39380 INFERRED 733716 HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 p36.1-p35 24000954 24024536 - 24128367 24151949 - 1599500;1300048;1580863;2326171;2326093;2326182;6480464;6907045;7240710 8440722;5667251;15877199;17692550 8102917;19177531;19036343;17459752;17173698;16330550;15764642;15752612;15489334;15164951;15122894;14702039;12477932;12464283;11952809;11129331;9463337;8978493;8798725;8617516;8027038;7527399;2116546;16169070;20558737;16344560;19932602;8889548;20877624;22865860;20178365;21514269;21952825;21988832;21900206;8670134;9200711;9869651;20301313 3155 B1AK13;D6REN8;H0Y2L7;P35914 ABBA01059886;AI202943;AK122801;AK300733;AK309129;AK313869;AL031295;AL590728;AMYH01000363;AMYH01000364;BC010570;BC021145;BM981610;BT009792;CA306929;CH471134;CR456884;DA425822;FJ472654;GU433941;L07033;NG_013061;NM_000191;NM_001166059 AAA92733;AAH10570;AAP88794;ABM83009;ABM86202;ACK58684;ADD21697;BAG36597;BAG53736;BAG62406;CAG33165;EAW95094;EAW95095;EAW95096;EAW95097;NP_000182;NP_001159531;P35914 Hs.533444 1692220;1744653;1745763;1852627;2138850;2158632;2219806 AL033765;D1S3295;GDB:549168;GDB:636092;HMGCL__6576;RH68992;SHGC-12784 HL 3-hydroxy-3-methylglutarate-CoA lyase;3-hydroxy-3-methylglutaryl coa lyase;3-hydroxy-3-methylglutaryl-CoA lyase;3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase;3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria);HMG-CoA lyase;OTTHUMP00000003004;OTTHUMP00000003005;OTTHUMP00000223529;OTTHUMP00000223530;hydroxymethylglutaricaciduria;hydroxymethylglutaryl-CoA lyase, mitochondrial;mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase APPROVED protein-coding ENSG00000117305 5005 02003 246450;613898 REVIEWED 4889740 HMGN1P4 high mobility group nucleosome binding domain 1 pseudogene 4 1 1 1 q25.3 156021549 156022765 - 181176958 181178380 - 182910441 182911657 - 12727900 100036575 ABBA01027759;AL450304;AMYH01001550;NG_005989 APPROVED pseudo 39336 INFERRED 4890199 HMGN1P38 high mobility group nucleosome binding domain 1 pseudogene 38 15 15 15 q26.1 69666665 69667878 + 91055828 91057250 + 93254924 93256137 + 12727900 643790 ABBA01053095;AC091544;AMYH01006932;NG_005986 1898806 REN20199 APPROVED pseudo 39422 INFERRED 6480895 HMGN1P5 high mobility group nucleosome binding domain 1 pseudogene 5 1 158236543 158237110 - 12727900 100874429 ABBA01016629;AL121986;AMYH01001443;NG_032257 pseudo 39348 INFERRED 6480899 HMGN1P8 high mobility group nucleosome binding domain 1 pseudogene 8 3 167412143 167412430 - 12727900 100874431 ABBA01058725;AC079822;AMYH01013636;NG_032259 pseudo 39351 INFERRED 6480896 HMGN1P6 high mobility group nucleosome binding domain 1 pseudogene 6 2 207124352 207124642 - 12727900 100874430 ABBA01062654;AC007383;AMYH01011438;NG_032258 pseudo 39349 INFERRED 4889699 HMGN1P7 high mobility group nucleosome binding domain 1 pseudogene 7 3 3 3 q11.2 92090971 92091761 - 95190166 95190956 - 93706790 93707906 - 12727900 100129555 ABBA01026971;AC117474;AMYH01013339;NG_028937 APPROVED pseudo 39350 INFERRED 6481000 HMGN1P9 high mobility group nucleosome binding domain 1 pseudogene 3 134104039 134104336 + 100874410 ABBA01059156;AC010207;AMYH01013513;NG_032260 pseudo 39352 INFERRED 731579 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 5 5 q13.3-q14 74668855 74693681 + 74632993 74657926 + 1580863;2313760;2313759;2313755;2313753;2316857;4892116;5508445;5508455;5508458;5508459;5508471;5508686;2315888;5508474;5508462;5508466;5508468;5508469;5508470;5508475;5508480;2292672;2316848;5508701;5508448;5508450;5508460;5508465;5508472;5508473;5508476;5508477;5508478;5508683;5508690;5508692;5508696;6480464;6907045;7240710 15111316;15312879;15476492;17870053;16876788;18563955;21724106;18562561;18333374;18184918;16557230;21119529;18398369;15809366;17702587;17286627;17119970;17085013;16922808;15699169;1611649;17303181;16140414;12750068;21360500;20084838;17724290;17640385;16316970;16009498;14691063;12742282;11565076;19578821;19913842;19461650;17250646 9853754;10698924;2991281;19336370;19327767;19148283;19088433;19067673;19060911;19060906;19053857;18996102;18815589;18802019;18787507;18676680;18660489;18622260;18559695;18459144;18354102;18332269;18261733;18193044;18056971;18024962;17855807;17652086;17284348;16930778;16054061;15811249;15489334;15473258;15233402;15199031;15146197;15090540;14697242;14684825;14556080;12871602;12860252;12803139;12778445;12535518;12477932;12477733;12213890;11894121;11716764;11349148;10695663;10449533;10391209;8406993;8028508;6491541;6479432;3896758;3866240;3860301;3308873;2998972;2369897;1979742;1755834;16014965;21145461;21433257;20571754;20578904;20602615;20628086;20679960;21262914;17681147;19170196;19197348;19446537;19460711;19554360;19558216;19625176;19667110;19692168;19773416;19906111;19913121;19923996;19948975;20031551;20031582;20031591;20145341;20167577;20235787;20388088;20403997;20409966;20413733;20450896;20540816;21355415;20864672;20935630;20691829;20972250;19887822;16168377;14563840;23223569;21343306;19458199;21944868;22858685;16196087;20458442;21530605;21799150;21801748;21987572;22024489;22143767;21778231;21427285;22177940;21139048;21890473;21906983;17502376;20686565;21909109;17180682;21963094;23000965;16515720;22053931;22505724 3156 C9JKX7;D6RIW0;H0Y8F6;H0Y8K6;P04035 AA648735;ABBA01061944;AC008897;AF273765;AK292892;AK296499;AK299655;AK312437;AMYH01015409;AY321356;AY429541;AY429542;AY429543;BC024180;BC033692;CH471084;CN278665;HB386655;M11058;M62627;M62633;NG_011449;NM_000859;NM_001130996 AAA52679;AAG21343;AAH33692;AAP72015;ABM81781;ABM84935;BAF85581;BAG35346;BAG61573;BAH12375;CAZ64465;EAW95754;EAW95755;EAW95756;NP_000850;NP_001124468;P04035 Hs.628096;Hs.643495 1741567;1767589;2134039;2181780;2190577;5119663 D5S2478;D5S2670;EST7D6;GDB:177804;GDB:181537;RH47294 LDLCQ3 3-hydroxy-3-methylglutaryl CoA reductase (NADPH);3-hydroxy-3-methylglutaryl-Coenzyme A reductase;HMG-CoA reductase;OTTHUMP00000128250;OTTHUMP00000222062;OTTHUMP00000222063;hydroxymethylglutaryl-CoA reductase APPROVED protein-coding ENSG00000113161 5006 00836 142910 REVIEWED 1353913 HMGN2P1 high mobility group nucleosomal binding domain 2 pseudogene 1 14 14 14 q11.2 3595011 3595701 - 22802078 22802954 - 23732310 23733000 - 12727900 319132 ABBA01061318;AL049829;AMYH01005603;NG_002510 HMGN2L1;HMGN2P APPROVED pseudo 19930 INFERRED 4890128 HMGN1P37 high mobility group nucleosome binding domain 1 pseudogene 37 X X X q28 154203119 154204343 - 153697668 153699090 - 154044574 154045796 - 11181995;12727900;21906983 728776 ABBA01029087;AC109993;AMYH01023320;CH471172;NG_005984 EAW72653;EAW72654 1820408;2039564;2039566;2039568;2039570;2039572;2039574;2039576;2039578;2039580;2039582;2039584;2039586;2039588;2102954;5105010 ECD11279;REN90806;REN90807;REN90808;REN90809;REN90810;REN90811;REN90812;REN90813;REN90814;REN90815;REN90816;REN90817;REN90818;stSG604312;stSG604313 APPROVED pseudo 39421 INFERRED 1349990 HMGN2P12 high mobility group nucleosomal binding domain 2 pseudogene 12 6 q21 107999036 108000344 - 3441004 3153 NG_001142;X06444 2158268 D6S1996 60H;HMG17P2;HMGN2L12 APPROVED pseudo 4991 INFERRED 4889258 HMGN2P13 high mobility group nucleosomal binding domain 2 pseudogene 13 3 q25.2 152784944 152786164 + 12727900 100289682 ABBA01058885;AC117394;AMYH01013588;NG_028936 APPROVED pseudo 33557 INFERRED 1347323 HMGN2P11 high mobility group nucleosomal binding domain 2 pseudogene 11 7 7 7 q21.11 79209340 79210680 + 84343736 84345076 + 84505800 84507140 + 3441004 3152 AACC02000015;ABBA01045886;AC074183;AMYH01017662;CH236949;NG_001141;X06353 1729011 Hmgn2 28H;HMG17P1;HMGN2L11 APPROVED pseudo 4990 INFERRED 6482593 HMGN2P14 high mobility group nucleosomal binding domain 2 pseudogene14 14 64259681 64260790 + 12727900 100874458 ABBA01018338;AL161670;AMYH01005794;NG_032185 pseudo 23341 INFERRED 4889376 HMGN2P15 high mobility group nucleosomal binding domain 2 pseudogene 15 17 17 q21.31 37561823 37562095 - 40904749 40905924 - 12727900 100288165 ABBA01006409;AC100793;AMYH01008398;NG_028969 APPROVED pseudo ENSG00000214578 39020 INFERRED 1342849 HMGN2P10 high mobility group nucleosomal binding domain 2 pseudogene10 22 22 22 q13.2-q13.31 25911629 25911893 - 40435073 40435537 - 42105227 42105491 - 10591208;12727900 23606 ABBA01055651;AMYH01012804;NG_000892;Z83840 HMG17L2;HMGN2L10;bK216E10 APPROVED pseudo 4988 INFERRED 1352506 HMGN2P16 high mobility group nucleosomal binding domain 2 pseudogene 16 9 9 9 p22.3 15522224 15522484 + 15578253 15578713 + 15588353 15588613 + 12727900 728234 ABBA01065273;AL513423;AMYH01019249;NG_005991 HMGN2L APPROVED pseudo 31330 INFERRED 6769769 HMGN2P19 high mobility group nucleosomal binding domain 2 pseudogene 19 1 229706279 229706543 + 12727900 100874466 ABBA01009827;AL121990;AMYH01001810;NG_032279 pseudo 39383 INFERRED 1343072 HMGN2P2 high mobility group nucleosomal binding domain 2 pseudogene 2 14 14 14 q31.1 61328716 61329893 + 80358503 80359799 + 81288773 81289950 + 12727900 317726 ABBA01030613;AC022404;AMYH01005901;NG_002460 HMGN2L2 APPROVED pseudo 20016 INFERRED 4889688 HMGN2P18 high mobility group nucleosomal binding domain 2 pseudogene 18 1 1 q22 153386926 153388433 + 155120947 155122754 + 12727900 648822 ABBA01016715;AL607067;AMYH01001426;NG_027556 APPROVED pseudo 39382 INFERRED 4889677 HMGN2P17 high mobility group nucleosomal binding domain 2 pseudogene 17 1 1 1 p36.23 8062225 8063417 + 8876057 8877249 + 8953470 8954662 + 12727900 100113373 ABBA01035526;AL139415;AMYH01000230;NG_006598 APPROVED pseudo 39381 INFERRED 6483725 HMGN2P20 high mobility group nucleosomal binding domain 2 pseudogene 20 2 p23.3 24553176 24555225 + 12727900 646049 ABBA01045109;AC009228;AMYH01010165;NG_029250;NG_029516 pseudo 39385 INFERRED 6769771 HMGN2P22 high mobility group nucleosomal binding domain 2 pseudogene 22 2 101207590 101207788 + 12727900 100874468 ABBA01073926;AC068538;AMYH01010810;NG_032281 pseudo 39387 INFERRED 6769776 HMGN2P21 high mobility group nucleosomal binding domain 2 pseudogene 21 2 71030289 71030558 + 12727900 100874467 ABBA01075541;AC007395;AMYH01010425;NG_032280 pseudo 39386 INFERRED 6769773 HMGN2P26 high mobility group nucleosomal binding domain 2 pseudogene 26 3 167676532 167676870 + 12727900 100874470 ABBA01058724;AC128713;AMYH01013636;NG_032284 pseudo 39393 INFERRED 4889660 HMGN2P24 high mobility group nucleosomal binding domain 2 pseudogene 24 3 3 p22.1 40714727 40727054 - 40739740 40740926 - 12727900 729505 ABBA01024789;AC116441;AMYH01013103;NG_027554 APPROVED pseudo 39389 INFERRED 6769777 HMGN2P23 high mobility group nucleosomal binding domain 2 pseudogene 23 2 113738743 113739011 - 12727900 100874469 ABBA01074248;AC016724;AMYH01010967;NG_032282 pseudo 39388 INFERRED 4889659 HMGN2P25 high mobility group nucleosomal binding domain 2 pseudogene 25 3 3 q23 143066430 143066811 - 141582711 141584219 - 12727900 729687 ABBA01059039;AC112504;AMYH01013543;NG_027552 APPROVED pseudo 39392 INFERRED 6769774 HMGN2P27 high mobility group nucleosomal binding domain 2 pseudogene 27 5 115553723 115553992 - 12727900 100874471 ABBA01069025;AC109456;AMYH01015564;NG_032285 pseudo 39394 INFERRED 6769772 HMGN2P29 high mobility group nucleosomal binding domain 2 pseudogene 29 6 121729688 121729961 + 12727900 100874472 ABBA01025999;AL139098;AMYH01016632;NG_032286 pseudo 39396 INFERRED 735555 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 5 5 p14-p13 43325250 43349352 - 43287572 43313614 - 1300048;1580863;2302233;2316857;2326155;2326093;2326108;2326134;6480464;6484113;6907045 18452227;16876788;1685984;15877199;9893938 3470763;7913309;19088433;18660489;18636124;17081983;16344560;15489334;14702039;12477932;2877984;2870496;1971108;1358203;20346956;22939629;21139048;21890473;21906983;18029348;22053931;22505724 3157 D6RIW1;Q01581;Q5XJ04 ABBA01024256;AC114947;AK095492;AK315593;AL050004;AMYH01015057;BC000297;BC082234;BC083514;BT007302;CH471119;DB074885;DB078662;L25798;M15802;NM_001098272;NM_002130;X66435 AAA62411;AAH00297;AAH83514;AAP35966;BAC04559;BAG37965;CAA47061;EAW56054;EAW56055;EAW56056;NP_001091742;NP_002121;Q01581 Hs.397729;Hs.741287 1676274;1676662;1679972;1683932;1690576;1690862;1698732;1720813;1754761;1794308;1794604;5022777;5120067;5124585 G59382;GDB:194504;HMGCS1;PMC311006P3;PMC327197P1;RH102927;RH76109;RH80450;RH80686;RH93594;RH98561;RH98809;RH99205;SHGC-33119 HMGCS;MGC90332 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase;3-hydroxy-3-methylglutaryl coenzyme A synthase;3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble);3-hydroxy-3-methylglutaryl-coenzyme a synthase 1;HMG-CoA synthase;OTTHUMP00000221637;OTTHUMP00000221638;hydroxymethylglutaryl-CoA synthase, cytoplasmic APPROVED protein-coding 5007 07515 142940 VALIDATED 4889658 HMGN2P30 high mobility group nucleosomal binding domain 2 pseudogene 30 7 7 7 p14.1 42143700 42143958 + 42119420 42119848 + 42152850 42154050 + 12727900;9847074 100131183 AACC02000040;ABBA01058171;AC073852;AMYH01017201;CH236951;NG_008434;NG_028947 APPROVED pseudo 39397 INFERRED 6769775 HMGN2P32 high mobility group nucleosomal binding domain 2 pseudogene 32 9 110220319 110220587 - 12727900 100874473 ABBA01042790;AL359552;AMYH01021615;NG_032289 pseudo 39403 INFERRED 6769778 HMGN2P33 high mobility group nucleosomal binding domain 2 pseudogene 33 9 86693499 86693772 + 12727900 100874474 ABBA01034017;AL390838;AMYH01021465;NG_032290 pseudo 39404 INFERRED 1626548 HMGN2P3 high mobility group nucleosomal binding domain 2 pseudogene 3 16 16 16 p12.1 24819433 24820646 - 25950527 25951740 - 26043038 26044245 - 10763410;9988767;12727900 728632 ABBA01017130;AC093509;AMYH01007401;NG_006611 1822126;1829396;1832052;1836210;1841516;1842350;1901218;1901220;1901222;1901224;1901226;1901228;1901230;1901232;1901234;1901236;1901238;1901240;1901242;1901244;1901246;1901248;1901250;1901252;1901254;1901256;1901258;1901260;1901262;1901264;1901266;1901268;1901270;1901272;1901274;1901276;1901278;1901280;1901282;1901284;1901286;1901288;1901290;1901292;1901294;1901296;1901298;2203550;2203552;2203554;2203556;2203558;2203560;2203562;2203564 ECD12149;ECD15829;ECD17164;ECD19266;ECD21955;ECD22378;REN21408;REN21409;REN21410;REN21411;REN21412;REN21413;REN21414;REN21415;REN21416;REN21417;REN21418;REN21419;REN21420;REN21421;REN21422;REN21423;REN21424;REN21425;REN21426;REN21427;REN21428;REN21429;REN21430;REN21431;REN21432;REN21433;REN21434;REN21435;REN21436;REN21437;REN21438;REN21439;REN21440;REN21441;REN21442;REN21443;REN21444;REN21445;REN21446;REN21447;REN21448;stSG622150;stSG622151;stSG622152;stSG622153;stSG622154;stSG622155;stSG622156;stSG622157 HMGN2L3 APPROVED pseudo 33566 INFERRED 4889770 HMGN2P28 high mobility group nucleosomal binding domain 2 pseudogene 28 6 6 p25.2 2286683 2286949 + 2341591 2342734 + 12727900 100128372 ABBA01048635;AL031768;AL158139;AL591120;AMYH01016021;CH471087;NG_027664 EAW55079 1684457;1710882;1781200;2115309;2161795 L17960;RH80176;SHGC-84220;STS-N23009;stSG12383 APPROVED pseudo 39395 INFERRED 6769782 HMGN2P34 high mobility group nucleosomal binding domain 2 pseudogene 34 10 74396255 74396523 - 12727900 100874478 ABBA01020350;AL513185;AMYH01002824;NG_032291 pseudo 39405 INFERRED 4889647 HMGN2P31 high mobility group nucleosomal binding domain 2 pseudogene 31 9 9 9 p24.1 5237066 5237337 + 5301445 5301808 + 5311423 5312732 + 12727900 645930 ABBA01065415;AL135786;AMYH01019202;NG_028976 FLJ39176 APPROVED pseudo 39398 INFERRED 6769779 HMGN2P35 high mobility group nucleosomal binding domain 2 pseudogene 35 10 98675390 98675659 - 12727900 100874479 ABBA01021820;AL162502;AMYH01002975;NG_032292 pseudo 39406 INFERRED 6769781 HMGN2P36 high mobility group nucleosomal binding domain 2 pseudogene 36 11 13631942 13632211 - 12727900 100874480 ABBA01061121;AC026843;AMYH01003399;NG_032293 pseudo 39407 INFERRED 6769785 HMGN2P37 high mobility group nucleosomal binding domain 2 pseudogene 37 11 45535739 45536003 + 12727900 100874481 ABBA01060761;AC103855;AMYH01003528;NG_032294 pseudo 39408 INFERRED 6769784 HMGN2P38 high mobility group nucleosomal binding domain 2 pseudogene 38 11 73291191 73291601 + 12727900 100874482 ABBA01017516;AP000860;NG_032295 pseudo 39409 INFERRED 6769786 HMGN2P39 high mobility group nucleosomal binding domain 2 pseudogene 39 13 59584352 59584769 + 12727900 100874483 ABBA01037004;AL359262;NG_032296 pseudo 39410 INFERRED 6769783 HMGN2P40 high mobility group nucleosomal binding domain 2 pseudogene 40 15 68546971 68547239 + 12727900 100874484 ABBA01038785;AC107871;AMYH01006736;NG_032297 pseudo 39411 INFERRED 4889661 HMGN2P41 high mobility group nucleosomal binding domain 2 pseudogene 41 16 16 16 p11.1 67421169 67422353 - 34893962 34895146 - 35036461 35037645 - 12727900 729564 ABBA01002110;AC106785;AMYH01007638;NG_006599 2134275 D16S3220 APPROVED pseudo 39412 INFERRED 6769788 HMGN2P42 high mobility group nucleosomal binding domain 2 pseudogene 42 17 58512494 58512897 - 12727900 100874485 ABBA01035408;AC037475;AMYH01008529;NG_032298 pseudo 39413 INFERRED 6769787 HMGN2P43 high mobility group nucleosomal binding domain 2 pseudogene 43 17 74341919 74342162 + 12727900 100874486 ABBA01028746;AC090699;AMYH01008643;NG_032299 pseudo 39414 INFERRED 6482592 HMGN2P44 high mobility group nucleosomal binding domain 2 pseudogene 44 18 29612408 29614508 - 12727900 100874487 ABBA01022497;AC009831;AMYH01008928;NG_032582 pseudo 39415 INFERRED 6769780 HMGN2P45 high mobility group nucleosomal binding domain 2 pseudogene 45 X 17151116 17151521 - 12727900 100874475 ABBA01071515;AL732371;AMYH01022117;NG_032301 pseudo 39416 INFERRED 1626583 HMGN2P6 high mobility group nucleosomal binding domain 2 pseudogene 6 14 14 14 q12 5599951 5601144 - 24805299 24806480 - 25735459 25736652 - 12727900 643872 ABBA01061350;AL163052;AMYH01005617;NG_006597 1776646 SHGC-31747 HMGN2L6 APPROVED pseudo ENSG00000257179 33574 INFERRED 1626584 HMGN2P5 high mobility group nucleosomal binding domain 2 pseudogene 5 15 15 15 q13.1 7664155 7665349 + 27810108 27811312 + 30022816 30024010 + 12727900 727795 ABBA01010400;AC022613;AMYH01006502;NG_006579 HMGN2L5 APPROVED pseudo 33568 INFERRED 1626555 HMGN2P7 high mobility group nucleosomal binding domain 2 pseudogene 7 3 3 3 p25.1 15353999 15355505 - 15390764 15392269 - 15415760 15417267 - 12727900 644498 ABBA01025141;AC027125;AMYH01013002;NG_006600 HMGN2L7 APPROVED pseudo 33575 INFERRED 1346737 HMGN2P9 high mobility group nucleosomal binding domain 2 pseudogene 9 22 22 22 q13.2 28109284 28110743 + 42529322 42530781 + 44197989 44199448 + 10591208;12727900 23605 ABBA01014581;AMYH01012830;NG_002646;NG_030019;Z97055 HMG17L1;HMGN2L9;dJ388M5;dJ388M5.2 APPROVED pseudo 4987 INFERRED 1626586 HMGN2P4 high mobility group nucleosomal binding domain 2 pseudogene 4 5 5 5 q13.3 71430667 71431871 - 75572782 75573983 - 75537026 75538230 - 12727900 643744 ABBA01061954;AC113404;AMYH01015415;NG_006596 HMGN2L4 APPROVED pseudo 33567 INFERRED 4889283 HMGN3P1 high mobility group nucleosomal binding domain 3 pseudogene 1 1 1 q21.3 125482740 125483145 + 152371939 152376159 + 12727900 100289191 ABBA01049416;AL135842;AMYH01001398;NG_028929 pseudo 39206 INFERRED 4889301 HMGN2P8 high mobility group nucleosomal binding domain 2 pseudogene 8 10 10 q23.1 79835994 79837175 + 85841087 85842567 + 20208534;20379614;12727900 100288691 ABBA01003761;AC022394;AL390786;AMYH01002890;NG_027510 1334787;1340609;1717951 D10S1658;D10S1689;RH122802 AC022394.1;HMGN2L8 APPROVED pseudo 31662 INFERRED 737571 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 p13-p12 120092525 120113041 - 120290619 120311555 - 1580863;2326126;2326133;2326135;2326121;2326134;6480464;6907045;7240710 10892723;14769484;7902069;12399220;9893938 17387528;11479731;7851882;18660489;18636124;16940161;15489334;12647205;12477932;11228257;9305755;7893153;6986618;19913121;20549515;20628086;20346956;20877624;21502324;20618440;21952825;21890473;21906983;21832049;22505724 3158 P54868 ABBA01068518;AI215948;AK301594;AK302276;AK303777;AK313590;AL589734;AMYH01000980;BC044217;BF964973;BP420631;BX104280;CH471122;CR456850;GU433940;NG_013348;NM_001166107;NM_005518;U12788;U12789;U81859;X83618 AAA92673;AAA92674;AAB72036;AAH44217;ADD21696;BAH13520;BAH13664;BAH14049;CAA58593;CAG33131;EAW56709;EAW56710;NP_001159579;NP_005509;P54868 Hs.59889 1690584;2151050 D1S3445;RH11689 3-hydroxy-3-methylglutaryl coenzyme A synthase;3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial);HMG-CoA synthase;OTTHUMP00000013928;OTTHUMP00000243996;hydroxymethylglutaryl-CoA synthase, mitochondrial;mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase APPROVED protein-coding ENSG00000134240 5008 02580 600234;605911 REVIEWED 7248290 HMGN3-AS1 HMGN3 antisense RNA 1 16344560 100288198 AA256476;ABBA01040407;AL355796;AMYH01016457;BC042096;DA046558;NG_029598;NR_040671 Hs.586270 miscrna ENSG00000270362 48984 VALIDATED 1317138 HMGN1 high mobility group nucleosome binding domain 1 The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011] 21 21 q22.2 39636111 39642917 - 40714241 40721047 - 1580863;6480464;7246919 22824526 8047885;16780588;19524541;18287527;17938209;16729963;16253989;16061652;15489334;15302935;15147216;14702039;12773393;12477932;12215538;11438671;10830953;10753971;10739259;9852141;8534374;8514795;7563062;4022776;3782107;2563381;2140193;10469656;11025449;20211142;21173166;22990118;22939629;20541997;21906983;22009741;16916636;21044950;22779921;21907836;22184635;21988832;22393258;23080069 3150 A6NEL0;A6NGZ2;A6NL93;F2Z2W6;F2Z2Y5;H7BXJ5;P05114;Q6NSG7 AB209245;ABBA01009343;AF064861;AK056033;AK130775;AK315410;AL163279;AL582106;AMYH01012248;AMYH01012249;AMYH01012250;BC000075;BC023984;BC070153;BC070154;BC071643;BC072672;BC106080;BC107741;BE779939;BT007337;CH471079;J02621;M21339;NM_004965 AAA52676;AAA52677;AAH00075;AAH23984;AAH70153;AAH70154;AAH71643;AAH72672;AAI06081;AAI07742;AAP36001;ABM82667;ABM85845;BAB71078;BAD92482;CAB90453;EAX09650;EAX09651;EAX09652;EAX09653;EAX09654;EAX09655;EAX09656;NP_004956;P05114 Hs.356285 1729774;1741277;1741751;1741753;1741777;1807046;1808196;1817432;1824834;1830506;1832928;1833776;1835158;1845984;1858592;1898802;1898804;1898806;1898808;1898810;1898812;1898814;1898816;1898818;1898820;1898822;1898824;1898826;1898828;1898830;1898832;1898834;1898836;1898838;1898840;1898842;1898844;1898846;1898848;1898850;1898852;1898854;1898856;1898858;1898860;1898862;1898864;1898866;1898868;1898870;2203136;2203138;2203140;2203142;5014404;5015947;5019849;5024593;5024758;5038374;5038460 D21S220;ECD04488;ECD05079;ECD09766;ECD10572;ECD13516;ECD16388;ECD17402;ECD17605;ECD18033;ECD18713;ECD18734;ECD22897;ECD24212;ECD24497;G34952;GDB:180305;GDB:184394;GDB:184395;GDB:185163;REN20197;REN20198;REN20199;REN20200;REN20201;REN20202;REN20203;REN20204;REN20205;REN20206;REN20207;REN20208;REN20209;REN20210;REN20211;REN20212;REN20213;REN20214;REN20215;REN20216;REN20217;REN20218;REN20219;REN20220;REN20221;REN20222;REN20223;REN20224;REN20225;REN20226;REN20227;REN20228;REN20229;REN20230;REN20231;RH67009;RH80697;stSG622717;stSG622718;stSG622719;stSG622722 FLJ27265;FLJ31471;HMG14;MGC104230;MGC117425 OTTHUMP00000068966;OTTHUMP00000069043;OTTHUMP00000109173;high mobility group nucleosome-binding domain-containing protein 1;high-mobility group (nonhistone chromosomal) protein 14;high-mobility group nucleosome binding 1;high-mobility group nucleosome binding domain 1;non-histone chromosomal protein HMG-14;nonhistone chromosomal protein HMG-14 APPROVED protein-coding ENSG00000205581 4984 01231 163920 REVIEWED 1351115 HMGN2P46 high mobility group nucleosomal binding domain 2 pseudogene 46 15 15 15 q21.1 22694488 22740083 + 43590626 43636220 + 45803334 45848928 + 6480464 15027122;14702039;12477932;12727900;19322201 283651 Q86SG4 ABBA01039176;ABBA01039177;ABBA01039178;ABBA01039179;ABBA01039180;AC025580;AC090527;AK096745;AMYH01006620;AY271964;AY271965;AY271966;AY271967;BC062412;NR_022014 AAP12643;AAP12644;AAP12645;AAP12646;BAC04856 Hs.574240 5022588 D5S1597E C15orf21;D-PCa-2;FLJ39426 APPROVED pseudo 26817 16622 611314 VALIDATED 1350424 HMGN2 high mobility group nucleosomal binding domain 2 1 1 p36.1 26671489 26675720 + 26798902 26803133 + 1580863;6480464 17474147;19524541;18299391;18287527;16710414;15489334;12477932;12032302;11438671;11410162;11337467;11246012;10753971;10640150;10207070;9852141;7563062;4022776;3754870;2565024;2394451;2040281;2037294;21319273;21730181;21816901;20842856;17709345;22267324;21139048;21906983;21518253;21044950;21628590;18029348;23314748;20016921 3151 P05204 ABBA01034911;AK026562;AL513365;AMYH01000401;AMYH01000402;AU100588;BC000378;BC003050;BC003689;BC007124;BC014644;BC020307;BC032140;BC061898;BC064347;BC070297;BC071707;BC072010;BC072011;BC075837;BC081567;BC110390;BU074476;CH471059;CR542122;M12623;NM_005517;X13546 AAA52678;AAH00378;AAH03050;AAH14644;AAH32140;AAH70297;AAH71707;AAH72010;AAH72011;AAH75837;AAH81567;AAI10391;ABZ92038;CAA31898;CAG46919;EAX07803;NP_005508;P05204 Hs.181163 1769256;5038352 ECD09439;SHGC-74438 HMG17;MGC5629;MGC88718 OTTHUMP00000003669;high mobility group nucleosome-binding domain-containing protein 2;high mobility group protein N2;high-mobility group (nonhistone chromosomal) protein 17;high-mobility group nucleosomal binding domain 2;non-histone chromosomal protein HMG-17;nonhistone chromosomal protein HMG-17 APPROVED protein-coding 4986 01230 163910 VALIDATED 1344098 HMGN4 high mobility group nucleosomal binding domain 4 The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. [provided by RefSeq, Mar 2013] 6 6 6 p21.3 27767909 27776509 + 26646551 26655144 + 26538572 26547165 + 1580863;6480464 16344560;15489334;14574404;12477932;11410162;9149941;20211142;21044950;18029348 10473 O00479 ABBA01066557;ABBA01066558;AK311841;AL121936;AMYH01016163;AU143224;BC001282;BC035998;BT009824;CH471087;NM_006353;U90549 AAB53427;AAH01282;AAP88826;ADR82730;BAG34783;EAW55586;EAW55587;EAW55588;EAW55589;EAW55590;NP_006344;O00479 Hs.236774 1654487;1656380;1712322;1856273;1856969;2143106 D6S2358;G54070;RH46615;RH68775;SHGC-35158;WI-13558 HMG17L3;MGC5145;NHC OTTHUMP00000016171;high mobility group nucleosome-binding domain-containing protein 4;high mobility group protein N4;high-mobility group (nonhistone chromosomal) protein 17-like 3;high-mobility group protein 17-like 3;non-histone chromosomal protein HMG-17-like 3 APPROVED protein-coding 4989 17111 REVIEWED 1346445 HMI hypomelanosis of Ito 7240710 12239727;11074501 3160 5011 1314021 HMGXB4 HMG box domain containing 4 High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010] 22 22 22 q13.1 19456143 19494488 + 33983489 34021800 + 35653445 35691800 + 1580863;6480464 10329004;18029348;17671966;16455055;15461802;12529303;12477932;10591208;20379614;20511232;20800603;22939629;21900206 10042 B0QXZ8;B0QXZ9;F8WDU7;Q7Z641;Q9UGU5 ABBA01055412;AI471703;AJ010069;AJ010070;AK299833;AL008635;AL079310;AMYH01012740;BC004194;BC011723;BC017326;BC025303;BC033783;BC040447;BC052624;BC062413;BC080611;BC104754;BC104756;BC111373;CB991207;CH471095;CR456504;DW452042;NM_001003681;NR_027780 AAH04194;AAH17326;AAH25303;AAH52624;AAH62413;AAI04755;AAI04757;AAI11374;BAG61700;CAA08991;CAA08992;CAB45240;CAG30390;CAK54533;CAK54832;EAW60048;EAW60049;EAW60050;EAW60051;NP_001003681;Q9UGU5 Hs.588815 1685744;2143142;2191231;5491527 AL008649;MARC_16659-16660:1017782419:3;MARC_17057-17058:1023803570:1;RH91140 HMG2L1;HMGBCG;THC211630 HMG box-containing protein 4;HMG domain-containing protein 4;OTTHUMP00000197368;high mobility group protein 2-like 1;high-mobility group protein 2-like 1 APPROVED protein-coding ENSG00000100281 5003 05267 604702 VALIDATED 2302190 HMGXB3 HMG box domain containing 3 This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011] 5 5 5 q32 145461556 145514089 + 149360047 149413965 + 149380169 149432706 + 6480464 9027509;18029348;12477932;8786123;8724849;2524025;16344560;20041166;8889548;21900206;21906983 22993 E9PEK0;H0YAC2;Q12766;Q562E5 ABBA01026287;ABBA01026288;AC011382;AC011406;AMYH01015706;BC005880;BC035219;BC035434;BC051025;BC063691;BC092520;BM974831;D83778;DA324742;NG_021389;NM_014983;U63963 AAB51697;AAH05880;AAH51025;AAH63691;AAH92520;BAA12107;NP_055798;Q12766 Hs.719189 1668579;1680968;1692948;1736828;1740407;1740515;1780594;2150928;2191689 AL034189;D5S1708;D5S1865;D5S2222E;D5S2305E;MARC_5049-5050:996690089:1;RH15986;RH25407;bac51323T HMGX3;KIAA0194;SMF HMG domain-containing protein 3;OTTHUMP00000224090;OTTHUMP00000224091 APPROVED protein-coding ENSG00000113716 28982 VALIDATED 1352330 HMGN3 high mobility group nucleosomal binding domain 3 Thyroid hormone receptors are hormone-dependent transcription factors that regulate expression of a variety of specific target genes. The protein encoded by this gene binds thyroid hormone receptor beta, but only in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 6 6 6 q14.1 80298225 80331717 - 79967681 80001174 - 79910962 79944455 - 1580863;6480464 17474147;7776974;17081983;15489334;14702039;14574404;12477932;12033773;11356838;18029348;15604093;19651901;21906983;21947420;21044950 9324 Q15651 ABBA01040406;ABBA01040407;AF274949;AF401520;AK124181;AK315391;AL355796;AMYH01016457;AY043282;BC009529;BF790582;BI551210;BK000003;BK000006;BX648085;CH471051;L40357;NG_029598;NM_001201362;NM_001201363;NM_004242;NM_138730 AAA73877;AAH09529;AAK07526;AAK85736;AAK92012;BAG37784;CAI46267;DAA00392;DAA00395;EAW48711;EAW48712;EAW48713;EAW48714;EAW48715;NP_001188291;NP_001188292;NP_004233;NP_620058;Q15651 Hs.77558 1671239;1857736;2108147;2118893;2172698 A003P21;HMGN3_8925;HSC2GA122;RH46791;SHGC-33129 DKFZp686E20226;FLJ42187;PNAS-24;PNAS-25;TRIP7 OTTHUMP00000016772;OTTHUMP00000016773;TR-interacting protein 7;TRIP-7;high mobility group nucleosome-binding domain-containing protein 3;high-mobility group protein HMGN3;thyroid hormone receptor interacting protein 7;thyroid hormone receptor interactor 7;thyroid receptor-interacting protein 7 APPROVED protein-coding ENSG00000118418 12312 16062 604502 REVIEWED 1602470 HMHB1 histocompatibility (minor) HB-1 This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 139272943 139281505 + 143171919 143180477 + 143191726 143200284 + 19240061;18093280;12477932;9892612;20353833;20718936 57824 O97980 ABBA01026361;AC025765;AF103884;AF233094;AMYH01015671;BC096711;BC098145;BC098244;BC098251;BC104412;BC104413;BC113894;BC113971;CH471062;NM_021182 AAC78642;AAF81110;AAI04413;AAI04414;EAW61867;NP_067005;O97980 Hs.158320 HB-1;HLA-HB1 OTTHUMP00000223248;minor histocompatibility antigen HB-1;minor histocompatibility protein HB-1 APPROVED protein-coding ENSG00000158497 29677 17089 609961 REVIEWED 1344965 HMS1 homosexuality 1 8332896 3165 5016 1318685 HMGN5 high mobility group nucleosome binding domain 5 This gene encodes a nuclear protein with similarities to the high mobility group proteins, HMG14 and HMG17, which suggests that this protein may function as a nucleosomal binding and transcriptional activating protein. [provided by RefSeq, Sep 2009] X X X q13.3 80609351 80697598 - 80255856 80263772 - 80369200 80457441 - 1580863;6480464 21518955;11161810;18029348;16344560;15592455;15489334;14702039;12477932;22504871;21282530;22994738;19748358;20123071;20531280;21695596;21373965;21139048;21693764;22420896 79366 P82970;Q5JSK6;Q5JSK7;Q5JSK8;Q5JSK9;Q5JSL0 ABBA01049181;ABBA01049182;ABBA01049183;ABBA01049184;ABBA01049185;ABBA01049186;ABBA01049187;AF250329;AF250330;AK094058;AK315792;AL357115;AL391294;AL590810;AMYH01022642;AMYH01022643;BC005342;CH471104;DA745749;NG_013234;NM_030763 AAH05342;AAK14062;AAK14063;ABZ92517;BAG38137;EAW98582;NP_110390;P82970 Hs.282204 NBP-45;NSBP1 OTTHUMP00000023610;OTTHUMP00000023611;OTTHUMP00000023612;OTTHUMP00000023613;OTTHUMP00000023614;OTTHUMP00000023615;high mobility group nucleosome-binding domain-containing protein 5;high-mobility group nucleosome binding domain 5;nucleosomal binding protein 1;nucleosome-binding protein 1 APPROVED protein-coding ENSG00000198157 8013 02310 300385 REVIEWED 1602170 HMSD histocompatibility (minor) serpin domain containing This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010] 18 18 18 q22.1 58337038 58348095 + 59767574 59779093 + 61616588 61627646 + 17409267;16177791;8889548 284293 A8MTL9;P0C7T4 ABBA01056230;AC009802;AMYH01009057;AW205887;BM696260;NG_027807;NM_001123366 A8MTL9;NP_001116838 Hs.721604 1810566;1811090;1813894;1818510;1819342;1819744;1819798;1829854;1835048;1835868;1837106;1882582;1882584;1882586;1882588;1882590;1882592;1882594;1882596;1882598;1882600;1882602;1882604;1882606;1882608;1882610;1882612;1882614;1882616;1882618;1882620;1882622;1882624;1882626;1882628;1882630;1882632;1882634;1882636;1882638;1882640;1882642;1882644;1882646;1882648;1882650;1882652;1882654;1882656;1882658;1882660;1882662;1882664;1882666;1882668;1882670;1882672;1882674;1882676;1882678;1882680;1882682;1882684;1882686;1882688;1882690;1882692;1882694;1882696;1882698;1882700;1882702;2200324;2200326;2200328;2200330;2200332;2200334;2200336;2200338;2200340;2200342 ECD06276;ECD06543;ECD07974;ECD10317;ECD10738;ECD10942;ECD10969;ECD16060;ECD18677;ECD19095;ECD19718;REN11984;REN11985;REN11986;REN11987;REN11988;REN11989;REN11990;REN11991;REN11992;REN11993;REN11994;REN11995;REN11996;REN11997;REN11998;REN11999;REN12000;REN12001;REN12002;REN12003;REN12004;REN12005;REN12006;REN12007;REN12008;REN12009;REN12010;REN12011;REN12012;REN12013;REN12014;REN12015;REN12016;REN12017;REN12018;REN12019;REN12020;REN12021;REN12022;REN12023;REN12024;REN12025;REN12026;REN12027;REN12028;REN12029;REN12030;REN12031;REN12032;REN12033;REN12034;REN12035;REN12036;REN12037;REN12038;REN12039;REN12040;REN12041;REN12042;REN12043;REN12044;stSG619561;stSG619562;stSG619563;stSG619564;stSG619565;stSG619566;stSG619567;stSG619568;stSG619569;stSG619570 ACC-6;C18orf53;HSMD-v OTTHUMP00000066998;minor histocompatibility protein HMSD;minor histocompatibility serpin domain-containing protein;serpin-like protein HMSD APPROVED protein-coding ENSG00000221887 23037 612086 REVIEWED 1606818 HMHA1 histocompatibility (minor) HA-1 19 19 p13.3 1018174 1037627 + 1065922 1086627 + 6480464 19234124;18414982;18093280;17580157;16984283;15593299;15498856;15350465;14702039;14502255;12477932;12091347;11965046;11920221;11095984;10958358;9820596;9039502;8843592;19913121;20628086;20509834;16344560;23128233;22505724 23526 F5H1R4;F5H4A3;K7EM55;K7EM85;K7EPT4;K7EQA4;K7ES92;K7ES98;Q9GJP0 AA811117;ABBA01002619;ABBA01002620;ABBA01002621;AC004151;AC011558;AC093066;AF092537;AF207595;AF207596;AF207597;AF236756;AF308045;AF308046;AF308047;AF308048;AF308049;AF308050;AF308051;AF308052;AF308053;AF308054;AF308055;AF308056;AF308057;AF308058;AF308059;AF308060;AF308061;AF308062;AF308063;AF308064;AF308065;AF308066;AK122776;AK128097;AK300341;AK304271;AK304765;AMYH01009223;AMYH01009224;BC035564;BC048129;BC065223;CH471139;D86976;DB135747;DB157802;DB162560;DC382305;NM_001258328;NM_012292;NR_047652 AAC03237;AAC64140;AAF91292;AAG02014;AAG02015;AAG02016;AAH35564;AAH48129;AAH65223;AAN04658;BAA13212;BAG53721;BAG54629;BAG62086;BAG65520;BAH14146;EAW69551;EAW69552;EAW69553;EAW69554;EAW69555;NP_001245257;NP_036424;Q92619 Hs.465521 1676005;1734694;1848583;2216966 ABCA7_2692;D19S692E;RH25429;RH80177 ARHGAP45;HA-1;HLA-HA1;KIAA0223 minor histocompatibility antigen HA-1;minor histocompatibility protein HA-1 protein-coding ENSG00000180448 17102 03097 601155 VALIDATED 1603243 HMX3 H6 family homeobox 3 10 10 10 q26.13 118602095 118603775 + 124885557 124887237 + 124895567 124897247 + 6480464 19615732;19253379;15164054;22779713 340784 A6NHT5 ABBA01062837;AC012391;AMYH01003146;AW088771;CH471066;NM_001105574 A6NHT5;EAW49289;NP_001099044 Hs.531194 5492277 Hmx3 NKX-5.1;NKX5.1;Nkx5-1 OTTHUMP00000020684;homeo box (H6 family) 3;homeobox (H6 family) 3;homeobox protein H6 family member 3;homeobox protein HMX3;homeobox protein Nkx-5.1 protein-coding ENSG00000188620 5019 613380 VALIDATED 1312652 HMX1 H6 family homeobox 1 This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009] 4 4 p16.1 8752103 8753019 - 8868773 8873543 - 1580863;6480464;7240710 1360670;10206974;18423520;7647458;12477932;21417677 3166 F1T0J4;Q9NP08 ABBA01016346;ABBA01016347;AC116612;AMYH01013934;AMYH01013935;AMYH01013936;M99587;NG_013062;NM_018942;U17648 AAC50156;AAF70205;AAI60031;NP_061815;Q9NP08 Hs.104134 H6;NKX5-3 H6 homeodomain protein;OTTHUMP00000217518;homeobox protein H6;homeobox protein HMX1 APPROVED protein-coding ENSG00000215612 5017 00873 142992;612109 REVIEWED 730901 HMOX1 heme oxygenase (decycling) 1 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008] 22 22 q13.1 34107087 34120194 + 35777060 35790207 + 1580454;1580455;1580470;1580472;1582708;1582709;1582711;1582713;1582715;1598406;1598408;1598409;1598410;1358658;1601607;1601608;1601621;1582701;1580452;1598392;1598393;1598394;1580453;1598395;1598396;1598397;1598398;1598399;1598400;1598401;1598402;1598403;1598404;1598405;1582702;1601606;1547877;1580863;1300048;4143390;4140396;4145288;4145326;4145332;4145406;4145366;4145370;4145403;4145404;4145408;4145412;4145131;4145362;4145325;4145338;4145371;4145514;4145286;4145134;4145269;4145296;4145327;4145372;4145384;4145318;4145349;4145350;4145289;4145410;4145283;4145302;4145305;4145306;4145346;4145417;4145353;4145416;4145307;4145300;1304397;6480464;6484113;6907045;7240710;7207796 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5919;22573121;22580187;22212955;22302482;22549002;22583702;23052192;23606537;21102410;21963094;21988832;22750196;23074199;22776971;23139759;23571756;23583371;22670665;22264017;22849380;22945906;21861350;21174817;21756955;22843690;22689053;23103292;23255485;23055342;22594519;22559824;23251661;23123430;23221079 3162 B1AHA8;P09601;Q6FH11 ABBA01055413;AF051791;AK313120;AMYH01012741;AY460337;BC001491;BP288767;BT019785;CA306357;CH471095;CR456505;CR541945;CR541968;JF323038;M23041;M23042;NG_023030;NM_002133;X06985;X14782;Z82244 AAA50403;AAH01491;AAR23262;AAV38588;ABM83236;ABM86436;ADZ76424;BAG35941;CAA30045;CAA32886;CAG30391;CAG46743;CAG46766;CAK54534;CAK54833;EAW60059;NP_002124;P09601 Hs.517581 1689534;1790345;2217436 HMOX1;HMOX1_3225;RH27826 HMOX1D;HO-1;HSP32;bK286B10 OTTHUMP00000198812;heat shock protein, 32-kD;heme oxygenase 1 APPROVED protein-coding ENSG00000100292 5013 00782 141250;606963;614034 REVIEWED 1352475 HNB1 hereditary neuroblastoma 1 54111 5020 737426 HMMR hyaluronan-mediated motility receptor (RHAMM) The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008] 5 5 q33.2-qter 162820241 162851525 + 162887517 162918951 + 1580863;6480464;6907045;7240710 22095138;19424574;19148505;19092852;19064580;19001852;18971636;18559599;18425326;18354082;18174258;17978170;17922014;17872502;17395888;17392272;17157168;16565220;16344560;16112646;15809329;15705883;12939665;12808028;12712331;12477932;12225794;11716065;11448954;11433424;11403955;10216086;9601098;8890751;8595891;7683315;7541721;1602151;10547355;10882722;23166824;21435222;20619784;19212667;19580345;19724689;19857547;19011633;20956971;20849445;20360068;21903422;21914806;21274712;22371883;20309963;21139048;22203674;22110403;20301425;22610405;19826009;22532518;23455922 3161 E3W978;E5RI30;E5RIH2;O75330 ABBA01044183;AC112205;AF032862;AK290577;AK302975;AK303616;AK313603;AMYH01015770;AW629232;AY623426;BC017793;BC030505;BC033568;BC057235;BC070281;BC107869;BC108904;BC108905;CH471062;DB091289;NG_023309;NM_001142556;NM_001142557;NM_012484;NM_012485;U29343 AAC32548;AAC52049;AAH17793;AAH30505;AAH57235;AAH70281;AAI08905;BAF83266;BAG64118;BAG64626;EAW61521;EAW61522;EAW61523;EAW61524;EAW61525;NP_001136028;NP_001136029;NP_036616;NP_036617;O75330 Hs.740467 1649246;2137591;2159867;5491792 HMMR;L28345;RH36151;SGC32710 CD168;IHABP;MGC119494;MGC119495;RHAMM OTTHUMP00000160919;OTTHUMP00000160920;OTTHUMP00000196920;OTTHUMP00000224276;OTTHUMP00000224277;hyaluronan mediated motility receptor;intracellular hyaluronic acid binding protein;intracellular hyaluronic acid-binding protein;receptor for hyaluronan-mediated motility APPROVED protein-coding ENSG00000072571 5012 02963 114480;600936 REVIEWED 1602121 HMP19 HMP19 protein 5 5 5 q35.2 169505599 169569066 + 173405330 173468788 + 173472607 173536182 + 6480464 15489334;15383276;12477932;10931946;7829526;16169070;21900206;22589738 51617 Q7Z4X6;Q9Y328 ABBA01044014;AC093310;AC113423;AF113537;AF123767;AF133422;AK098398;AK294383;AK295206;AK297196;AK312359;AK315952;AMYH01015831;BC002619;BC018873;CD627354;CH471062;CR457142;DC366641;EL950772;NM_015980 AAD30539;AAF14874;AAH02619;AAP97246;BAG35277;BAG57640;BAG58202;BAG59683;BAH14323;CAG33423;EAW61383;EAW61384;EAW61385;EAW61386;NP_057064;Q9Y328 Hs.559412 1671109;2111470;2112806;2112824;2112828;2114934;2133021;2133023 A001W46;D5S1762;D5S2362;D5S2823;D5S2834;D5S2836;G19730;STS-M78787 NSG2;OTTHUMP00000161104;OTTHUMP00000223950;OTTHUMP00000223951;OTTHUMP00000223952;hypothalamus golgi apparatus expressed 19 kDa protein;neuron-specific protein family member 2;p19 protein;protein p19 protein-coding ENSG00000170091 13664 VALIDATED 1603347 HNF1A-AS1 HNF1A antisense RNA 1 12 12 12 q24.31 121043075 121045529 - 119893410 119894478 - 121407641 121410095 - 6480464 18940312;14702039;22001757 283460 ABBA01020147;AC079602;AK096009;AMYH01004807;CH471054;NR_024345 BAC04671;EAW98225 Hs.612351 5015961;5016478;5020274;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:434012;L18441 C12orf27;FLJ38690;NCRNA00262 APPROVED miscrna ENSG00000241388 26785 VALIDATED 1344941 HMX2 H6 family homeobox 2 The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012] 10 10 10 q26.13 118614169 118616719 + 124897628 124900178 + 124907638 124910188 + 6480464 12477932;7647458;19253379;15558495;20072845;7510254;9004130 3167 A2RU54 ABBA01062836;ABBA01062837;AC012391;AMYH01003146;BC132758;BC137139;BQ929484;CH471066;NM_005519 A2RU54;AAI32759;AAI37140;EAW49288;NP_005510 Hs.444756 H6L;Nkx5-2 H6 homeo box 2;OTTHUMP00000020683;homeobox (H6 family) 2;homeobox protein H6 family member 2;homeobox protein HMX2 APPROVED protein-coding ENSG00000188816 5018 18780 600647 REVIEWED 1348484 HNF4B hepatocyte nuclear factor 4, beta 8622695 3173 5025 68991 HMOX2 heme oxygenase (decycling) 2 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Alternative splice variants encoding the same protein have been identified at this locus. [provided by RefSeq, Jul 2008] 16 16 p13.3 4466447 4500349 + 4524719 4560348 + 1580863;6480464;6907045 1575508;15528406;18977241;17965015;17601350;17540772;17510199;17064313;16344560;16169070;16137652;16043027;15489334;15342556;14702039;14615405;14527438;14506930;12578814;12477932;12057765;11572959;11171041;11027601;9284910;8764571;8125298;8034330;7890772;12775419;12909459;21506105;20485444;19246912;19345412;19399816;19473966;19615732;19874887;19886851;20118244;20629646;21044367;20502928;21765894;21709601;21804464;22545110;21139048;21890473;21900206;22923613;21647550;21963094;21988832;22935040;22892400;22559824 3163 I3L159;I3L1F5;I3L1Y2;I3L276;I3L430;I3L463;I3L4P8;P30519 ABBA01026776;ABBA01026777;AC007606;AF051306;AK093388;AK222629;AK313660;AMYH01007104;AY771350;BC002396;BI225653;BP368949;BT019788;CH471112;CR456760;CR541839;D21243;DA141643;DA694137;NM_001127204;NM_001127205;NM_001127206;NM_002134;S34389 AAB22110;AAC05297;AAH02396;AAV28730;AAV38591;ACE86463;ACE87144;BAA04789;BAD96349;BAG52702;CAG33041;CAG46638;EAW85299;EAW85300;NP_001120676;NP_001120677;NP_001120678;NP_002125;P30519 Hs.284279 1738547;1742955;1795978;2156994 D16S2719;GDB:217012;HMOX2_1426;SHGC-61112 HO-2 OTTHUMP00000159847;heme oxygenase 2 APPROVED protein-coding ENSG00000103415 5014 00783 141251 REVIEWED 3028810 HNF4GP1 hepatocyte nuclear factor 4, gamma pseudogene 1 13 13 13 q21.1 37557790 37561751 - 55471335 55483746 - 56570623 56574584 - 18065488 100130462 ABBA01037032;AL138997;AL590304;AMYH01005136;NG_016594 1337518;1696756;2113368;2146500;2172482 CHLC.GATA42A09;D13S1327;D13S1746;D13S321;SHGC-77939 pseudo 35417 INFERRED 1348734 HN1 hematological and neurological expressed 1 17 17 17 q25.1 69723719 69743140 - 70642938 70662370 - 73131343 73150775 - 6480464 17081983;16602700;15489334;15094197;12477932;11054553;8125298;16169070;21323578;19145478;22939629;22155408;21139048;21906983;22505724 51155 F2Z3M5;F5GY98;J3KSH8;J3KT51;Q9H3K0;Q9UK76 ABBA01028813;ABBA01028814;ABBA01028815;AC022211;AF060925;AF086910;AF177862;AF266846;AF266847;AF348672;AK223321;AK308253;AK312613;AMYH01008629;AY322169;AY322170;BC001420;BC039343;CD359142;CH471099;NM_001002032;NM_001002033;NM_016185 AAD53312;AAG43137;AAH01420;AAH39343;AAL83903;AAP83838;AAP83839;AAP83962;AAP83963;AAP97140;AAQ14298;AAQ14299;ABM82835;ABM86020;ABM87834;ABW03454;BAD97041;BAG35500;EAW89244;EAW89245;EAW89246;EAW89247;NP_001002032;NP_001002033;NP_057269;Q9UK76 Hs.532803 1855342;2119832 RH12691;RH36500 ARM2;HN1A OTTHUMP00000205893;OTTHUMP00000205896;OTTHUMP00000205897;androgen-regulated protein 2;hematological and neurological expressed 1 protein protein-coding ENSG00000189159 14569 13665 VALIDATED 1312960 HN1L hematological and neurological expressed 1-like 16 16 16 p13.3 1940552 1964346 + 1668279 1692074 + 1728278 1752073 + 6480464 16964243;15489334;15334068;15094197;14702039;12477932;11157797;10718198;16169070;19584346;16341674;18029348;21139048;21900206 90861 A6NGP5;B4DLH4;B4E1P3;H3BMM8;H3BMT0;H3BMV3;H3BS08;H3BTV5;H3BU16;Q9H910 ABBA01030299;AE006639;AK023154;AK296888;AK296998;AK303927;AK304025;AK309909;AK309930;AK316514;AL031009;AL031710;AMYH01007039;AY323831;AY323978;AY323979;AY598330;BC014438;BC060853;BM474060;BM837125;CH471112;CS489579;NM_144570 AAH14438;AAH60853;AAK61288;AAK61289;AAP72616;AAP83791;AAP83792;AAT06741;BAB14434;BAG59447;BAG59536;BAG64855;BAG64940;BAH14885;CAM57895;EAW85634;EAW85635;EAW85636;EAW85637;EAW85638;NP_653171;Q9H910 Hs.513261 1650665;1738857;1853933;1856247;1856249;2166824;2169387;2170026 A006J08;D16S2902;G20864;RH65543;RH77849;SHGC-60756;SHGC-60789;SHGC-64081 C16orf34;FLJ13092;KIAA1426;L11 CRAMP_1 like;HN1 like;HN1-like protein;OTTHUMP00000045527;hematological and neurological expressed 1-like protein protein-coding ENSG00000206053 14137 12674 VALIDATED 69136 HNF1B HNF1 homeobox B This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 q12 33120547 33179209 - 36046434 36105096 - 1601484;2312750;2312751;2312748;2312749;6480464;6484113;6907045;7240710 11317673;15883474;15068978;19417042;17971380 22051731;16297991;10720943;18029348;19487294;19423541;19389850;19366831;19324937;19320191;19318432;19247372;19228875;19168595;18811724;18794092;18758462;18644064;18536653;18509286;18426861;18418350;18399756;18393978;18332101;18264097;18264096;18212765;18066692;18065799;18037103;17928287;17924661;17923767;17922147;17878605;17603485;17503391;17327436;17267738;17116179;16971658;16873704;16801329;16793932;16781669;16676400;16562587;16479257;22299039;16258507;16249435;15961790;15660195;15647252;15522234;15509593;15489334;15486044;15355349;15111528;15067324;14633622;14583183;12675839;12477932;12161522;12148114;12012276;11918730;11880302;11845238;11845237;11716293;11668623;11206404;11085914;10484768;9671480;9398836;7900999;2081590;2044952;1677179;16443774;22269832;21499250;19913121;20538322;20571754;20590552;20628086;20633866;20682687;20690139;20581827;20676098;19346182;19361964;19549807;19627283;19741195;19760597;19767753;19767754;19833888;19866473;19900942;19902474;19924231;19959718;19998368;20025686;20026053;20075150;20155289;20161779;20203524;20215779;20378641;20379614;20384434;20450899;20460480;20526366;20211142;20712903;20717903;20878950;20879858;20889853;21071540;21160077;20543213;20668890;21163139;21130072;11242053;23193118;21576123;21380624;21438902;21496868;21982019;22034641;22587559;22160269;21743057;22060211;22114815;22730461;22495362;22961080;23300827;21775974;22747504;23535730;22591187 6928 E0YMJ6;E0YMJ9;H0YL84;P35680;Q6FHW6 ABBA01001358;ABBA01001359;ABBA01001360;AC091199;AC113211;AI797324;AK290131;AK296633;AK298393;AMYH01008361;BC017714;BT007126;CH471199;CR536572;DC340648;HM116553;HM116554;HM116555;HM116556;NG_013019;NM_000458;NM_001165923;U90287;X58840;X71348 AAC63388;AAH17714;AAP35790;ABM82454;ABW03416;ADM43490;ADM43491;ADM43492;ADM43493;BAF82820;BAG59235;BAG60628;CAA41652;CAB59223;CAG38809;EAW57602;EAW57603;NP_000449;NP_001159395;P35680 Hs.191144 1335005;1661057;1688686;1704728;1722619;2114108;2123950;2189531 D17S1788;D17S1995;G60393;RH76353;SHGC-79644;TCF2;UniSTS:233983;WI-7310 FJHN;HNF-1B;HNF1beta;HNF2;HPC11;LF-B3;LFB3;MODY5;TCF-2;TCF2;VHNF1 HNF-1-beta;HNF-1B;HNF1 beta A;OTTHUMP00000164160;TCF-2;hepatocyte nuclear factor 1-beta;homeoprotein LFB3;transcription factor 2;transcription factor 2, hepatic;variant hepatic nuclear factor 1 APPROVED protein-coding ENSG00000108753 11630 08926 125853;137920;144700;189907 REVIEWED 1320814 HNF4G hepatocyte nuclear factor 4, gamma 8 8 8 q21.11 72447027 72473891 + 76614758 76641624 + 76452203 76479069 + 1580863;6480464;6907045 8622695;18029348;17684544;16421571;12544512;12477932;12220494;10512380;20211142;20935630;21047794;15604093;23563607;23263486 3174 F1D8Q4;Q14541 AB307704;ABBA01041994;AC040917;AF133504;AK025222;AMYH01018803;BC054009;BC105009;BC105011;BX571750;CH471068;CR542091;HQ692842;NM_004133;Z49826 AAF00110;AAH54009;AAI05010;AAI05012;ACE87623;ADZ17353;BAH02295;CAA89990;CAE11875;CAG46888;EAW87040;EAW87041;NP_004124;Q14541 Hs.241529 2184586 STS-Z49826 NR2A2;NR2A3 HNF-4-gamma;OTTHUMP00000195118;OTTHUMP00000195119;hepatocyte nuclear factor 4-gamma;nuclear receptor subfamily 2 group A member 2 protein-coding ENSG00000164749 5026 06909 605966 VALIDATED 1351717 HNRNPA1P1 heterogeneous nuclear ribonucleoprotein A1 pseudogene 1 6 6 6 p22.1 29097262 29098352 + 27599184 27600097 + 27491226 27492316 + 645950 ABBA01037998;AL021918;AMYH01016189;NG_008821 HNRPA1P1;b34I8.2;hnRNPA1-Lp pseudo 13957 INFERRED 69093 HNF4A hepatocyte nuclear factor 4, alpha The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] 20 20 q13.12 42417855 42493444 + 42984441 43061485 + 1601642;1601637;1580863;2301837;2301838;2301839;2301863;2301836;6480464;6484113;6907045;7240710 16804065;8945471;18268044;18184923;18028455;18332101;18728231 17923767;17920062;17894829;17891372;17885207;17876342;17827402;17805472;17785436;17764444;17601994;17576804;17574576;17563455;17466274;17464991;17407387;17403900;17393984;17353931;17344191;17343826;17327436;17317687;17300672;17291450;17264800;17259399;17052457;17022998;17007050;16980607;16978381;16955255;16946562;16936201;16929032;16893891;16883527;16882880;16873704;16838170;16771709;16752173;16731861;16731855;16644680;16584384;16562587;16523192;16502298;16488887;16351573;16338932;16223942;16186411;16051671;16007190;15983230;15933212;15928245;15919766;15831710;15830177;15826954;15796896;15794920;15793260;15752752;15735892;15735891;15734869;15728204;15660729;15561969;15547294;15520459;15519277;15504983;15470081;12220494;7615825;12911579;17827783;18163890;10551874;18029348;14563941;19467232;19435525;19406499;19353766;19228884;19228875;19188435;19179483;19154258;19147806;19060906;19048623;18988528;18844932;18829458;18811724;18805788;18765665;18666237;18660489;18654034;18602983;18561282;18552123;18513302;18513187;18498634;18426912;18395097;18391435;18356407;18346225;18305375;18305369;18234786;18199540;18162503;18056193;17992261;17991764;17965524;17958743;17932483;15358161;15337761;15322103;15281001;15194767;15123688;15047633;15047632;14988562;14722127;14702039;14654354;14551916;12855700;12829997;12740371;12701690;12697672;12669197;12631740;12627330;12551987;12544512;12522137;12519792;12504020;12413008;12235114;12203996;12133007;12110948;12101254;12089346;12086970;12083813;12050210;12036449;11994285;11916906;11834723;11818510;11811951;11780052;11772903;11741883;11733490;11717395;11590126;11549316;11229886;10995777;10786636;10737800;10652338;10609119;10085149;9812974;9795230;9792724;9717844;9449683;9434765;9371825;9313765;9294105;9267996;9243109;9115274;9048927;8964514;8622695;7926813;7651430;7568236;1899928;10594021;12944908;15616580;21352552;22432108;17895379;22009745;22357705;20576917;20622021;19913121;20628086;20682687;20670916;20735474;10330009;12477932;15604093;15651981;15744310;19115260;19302415;19336534;19389810;19454287;19549071;19563409;19575803;19578796;19651776;19748811;19761587;19805548;19846556;19915572;19924231;19934400;19948975;19966299;20003313;20079163;20164212;20167659;20308432;20361036;20379614;20384434;20158877;20086032;20558840;19740748;20211142;20714348;20863361;20878384;21062274;20463007;20546279;20871093;21047794;16712791;12205093;21062980;20705777;20931292;20976847;17636037;20684663;10882110;21300955;23038264;22628013;22802087;20371703;20375098;21494118;21384409;20516075;21633728;20926756;22952853;23628799;23292115;9792714;21493011;21708125;21442235;21646355;21725089;15342556;21292004;21814221;21831733;22153071;21852396;21618351;21744425;21733563;21799848;21760481;21683639;22140441;22308320;22068426;20686565;21874001;21922456;22060211;22158537;22240483;22155889;22282358;21983932;22383578;22197810;20301549;22333269;22505616;21988832;22902540;22960426;22939635;23128233;22791717;22914433;23108025 3172 F1D8S2;F1D8T0;F1D8T1;F8WBS7;Q6B4V6 AB307703;ABBA01052639;ABBA01052640;ABBA01052641;ABBA01052642;AF509467;AK096973;AL117382;AL132772;AMYH01011932;AMYH01011933;AW134564;AW935533;AY680696;AY680697;AY680698;BC137539;BC137540;BP274413;CB163637;CH471077;EF591040;FJ608822;HQ692860;HQ692868;HQ692869;NG_009818;NM_000457;NM_001030003;NM_001030004;NM_001258355;NM_175914;NM_178849;NM_178850;U72967;U72969;X76930;X87870;X87871;X87872;Z49825 AAB48082;AAB48083;AAI37540;AAI37541;AAM34296;AAT91237;AAT91238;AAT91239;ABQ52204;ACM50922;ADZ17371;ADZ17379;ADZ17380;BAH02294;CAA54248;CAA61133;CAA61134;CAA61135;CAA89989;EAW75921;EAW75922;EAW75923;EAW75924;EAW75925;NP_000448;NP_001025174;NP_001025175;NP_001245284;NP_787110;NP_849180;NP_849181;P41235 Hs.116462 1643976;1657698;1681476;1792438;1795156;2136464;2167382;2168678;2175964;5117230;5494206 D20S1127;GDB:451872;Hnf4;PMC151122P1;PMC99906P2;RH45568;RH66101;RH66546;RH69732;RH76001;SHGC-33922 FLJ39654;HNF4;HNF4a7;HNF4a8;HNF4a9;HNF4alpha;MODY;MODY1;NR2A1;NR2A21;TCF;TCF14 HNF-4-alpha;HNF4alpha10/11/12;OTTHUMP00000031059;OTTHUMP00000031060;OTTHUMP00000031062;TCF-14;hepatic nuclear factor 4 alpha;hepatocyte nuclear factor 4 4 alpha variant 1;hepatocyte nuclear factor 4 4 alpha variant 2;hepatocyte nuclear factor 4 4 alpha variant 4;hepatocyte nuclear factor 4-alpha;nuclear receptor subfamily 2 group A member 1;transcription factor 14;transcription factor HNF-4;transcription factor-14 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;2289429;2289431;2316342 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;GLUCO236_H APPROVED protein-coding ENSG00000101076 5024 02612 125850;125853;600281 REVIEWED 737153 HNF1A HNF1 homeobox A The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009] 12 12 q24.2 119900932 119924698 + 121416549 121440315 + 1601482;1580863;1601479;1601481;2293188;2301829;2301828;2301873;2301863;2301827;6480464;6484113;6907045;7240710 15094374;8945470;15277395;18432252;18443232;17828387;16752173;18332101;18003757 18671716;18593771;18586913;18513305;18513302;18498634;18440731;18439552;18439548;18433912;18433021;18399756;18391435;18346225;18221440;18172616;18080173;17965524;17937063;17932728;17638895;17601994;17573900;17569132;17475670;17458140;17440429;17440016;17407072;17353931;17327436;17264800;17194452;17192490;17130528;17116178;17049664;17037983;17033837;17021248;16963153;16930618;16893891;16873704;16793932;16788384;16781669;16760222;16714285;16712787;16675441;16632067;16562587;16443774;16442529;16367885;18672310;10330009;15961790;11980910;19567438;19564454;19490620;19453261;19388975;19351817;19349540;19336507;19304666;19289501;19280766;19228875;19198612;19188435;19150152;19119252;19060906;18940312;18854284;18811724;18777455;18720549;16297991;16276364;16254374;16249556;16241915;16223942;16186275;16046319;16046299;15983330;15983230;15930087;15928245;15899904;15847654;15841481;15830177;15740590;15660729;15660195;15569134;15542842;15522234;15520459;15489334;15326484;15305805;15300627;15270800;15217781;15194767;15111528;14988562;14747304;14728801;14715527;14583183;14575719;14500717;12934344;12860991;12794133;12788852;12773136;12762846;12743700;12730871;12726923;12712243;12707037;12627330;12605834;12574234;12565907;9754819;9626139;9621514;9604876;9439666;9392505;9313764;9313763;9287055;9287053;9166684;9133564;9112026;9097962;9092652;9075819;9075818;9032114;8288579;7900999;7795649;2460858;2263635;2044952;1707031;1535333;15616580;12544512;12530534;12488962;12488961;12488960;12477932;12453976;12453975;12453961;12453420;12442280;12378390;12355088;12235114;12107757;12107263;12050210;12012276;12011060;11978637;11938027;11827432;11772903;11668618;11522670;11440371;11266540;11162430;11134330;10944108;10779377;10777539;10677375;10649494;10588527;10482964;10333057;10209158;10102714;10084598;10078571;9867222;9792724;12547858;22671145;22395466;22432108;22788528;15355349;20460578;20396999;21195701;19913121;20571754;20581827;20628086;20634891;20648472;20679960;20682687;20716378;20834067;20727736;20738937;20863361;20971364;21062467;20393147;21196492;21203500;20132997;11269503;1677179;19169489;19264593;19357985;19536331;19578796;19672314;19687008;19741195;19749792;19782160;19794065;19878569;19924231;19933992;20018894;20028982;20031592;20069546;20075150;20096102;20106981;20113359;20133952;20172480;20394740;20416077;20546258;20829431;22357705;22517943;22802087;20633866;20568120;22798294;22993150;16341674;20705777;21208426;21437455;21573907;15598887;20980261;21348892;21454713;21168233;21224407;21353246;21647738;21182953;21300955;21170474;21429061;20690076;16147992;21176092;21747169;22413961;22849862;21498636;22290433;22160269;22340386;21814873;21975049;23274891;21683639;20686565;21909109;22001757;22010049;22060211;21047120;22341299;22383952;22474109;22466651;18160415;21988832;23183503;22569176;22939635;23144326;23263486 6927 E0YMJ5;E0YMK0;E0YMK1;E2I9R5;F5H0K0;F5H2Y5;F5H3Z5;F5H5U3;H0YND5;P20823 ABBA01020147;ABBA01020148;ABBA01020149;AC079602;AK298422;AMYH01004807;AW294801;BC104908;BC104910;BC143483;BE348240;BM854591;CH471054;EF641294;HM116541;HM116542;HM116543;HM116544;HM116545;HM116546;HM116547;HM116548;HM116549;HM116552;HM116557;HM116558;HM116559;HM116560;HM116561;HM116563;HM449088;HM449089;M57732;NG_011731;NM_000545;U72618;X71346;X71347 AAA88077;AAC51137;AAI04909;AAI04911;ABR09270;ABZ92189;ADK56177;ADK56178;ADM43481;ADM43482;ADM43483;ADM43484;ADM43485;ADM43486;ADM43487;ADM43488;ADM43489;ADM43494;ADM43495;ADM43496;ADM43497;ADM43498;BAG60646;CAB59201;EAW98226;EAW98227;EAW98228;NP_000536;P20823 Hs.654455 1791147;1852510;2172121;5022578 D12S2088;D1S1423;G15717;TCF1 HNF-1A;HNF1;IDDM20;LFB1;MODY3;TCF-1;TCF1 HNF-1-alpha;HNF-1A;HNF1A homeobox A delta 2;HNF1A homeobox A insIVS8;OTTHUMP00000198944;OTTHUMP00000198945;OTTHUMP00000240200;OTTHUMP00000240204;OTTHUMP00000240206;TCF-1;albumin proximal factor;hepatic nuclear factor 1;hepatocyte nuclear factor 1-alpha;interferon production regulator factor;liver-specific transcription factor LF-B1;transcription factor 1;transcription factor 1, hepatic;transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor 1643461;2289480;2316666;2316668 BW105_H;GLUCO244_H;GLUCO252_H;SLEP16_H APPROVED protein-coding ENSG00000135100 11621 00800 125853;142330;142410;144700;222100;600496;612520 REVIEWED 733644 HNMT histamine N-methyltransferase In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q22.1 138438278 138490404 + 138721808 138773934 + 1580863;1300048;1359041;5128889;5128885;5128887;5128888;5128881;5128883;5128884;5509773;5509779;5509771;5509772;5509775;5509774;5509777;5509778;5509780;5509776;6480464;6907045;7240710 11566133;19025430;17651147;16205835;15693910;10803682;21040557;20608921;16330002;11880199;21138759;21131122;19773194;21106039;18340362;17985251;10898922;18543121 7943261;19343046;19258923;19247692;19178400;19156168;18266724;18254975;18154359;18086566;17703412;16950574;16669609;16554448;16489678;15953854;15815621;15770103;15551002;15489334;14667820;12867290;12835614;12755416;12477932;12417108;12358773;12167489;9547362;8605025;8145732;21044950;20551163;20602615;19538200;19898482;20237496;20379614;20503287;22939629;18029348;21794955;21988832 3176 P50135;Q9P1Y0 AA935821;AB041388;ABBA01028130;ABBA01028131;AC093674;AF523356;AF523357;AF523358;AF523359;AF523360;AK301462;AK313804;AMYH01011129;BC005907;BC020677;CH471058;D16224;NG_012966;NM_001024074;NM_001024075;NM_006895;U08092;U44111 AAA17423;AAB18137;AAH05907;AAH20677;AAN33014;AAN33015;AAN33016;AAN33017;AAN33018;AAY24212;ABM82092;ABM85274;BAA03752;BAA94473;BAG36540;BAG62983;EAX11612;EAX11613;EAX11614;NP_001019245;NP_001019246;NP_008826;P50135 Hs.42151 1649206;1670347;1679850;2158506;2169633 D2S2054;RH68885;RH70639;RH80835;STS-AA036662 HMT;HNMT-S1;HNMT-S2 OTTHUMP00000162547;OTTHUMP00000204203;OTTHUMP00000204204;OTTHUMP00000214277;OTTHUMP00000214278;histamine N-methyltransferase APPROVED protein-coding ENSG00000150540 5028 05575 600807;605238 REVIEWED 4145433 HNRNPA1P12 heterogeneous nuclear ribonucleoprotein A1 pseudogene 12 5 5 5 q14.1 75556218 75557178 - 79689930 79691676 - 79654899 79655859 - 644037 ABBA01062037;AC026410;AMYH01015445;NG_021856 pseudo 39130 INFERRED 5490923 HNRNPA1P14 heterogeneous nuclear ribonucleoprotein A1 pseudogene 14 9 91025447 91026378 - 100421351 ABBA01016517;AL353748;AMYH01021492;NG_023844 pseudo 39132 INFERRED 5490921 HNRNPA1P15 heterogeneous nuclear ribonucleoprotein A1 pseudogene 15 9 128357952 128358904 + 100421353 ABBA01043789;AL162584;AMYH01021711;NG_023957 pseudo 39133 INFERRED 5490922 HNRNPA1P17 heterogeneous nuclear ribonucleoprotein A1 pseudogene 17 3 108044355 108045661 - 100421376 ABBA01061705;AC078855;AMYH01013382;NG_025606 pseudo 39135 INFERRED 4145402 HNRNPA1P10 heterogeneous nuclear ribonucleoprotein A1 pseudogene 10 19 19 19 p13.2 36194645 36196002 + 11637521 11651981 - 11776551 11777904 - 21906983;15514164;2836799 664709 ABBA01029828;AC008543;AMYH01009488;EC496431;NR_002944 Hs.534822 HNRPA1L-2 pseudo 39128 PROVISIONAL 4145503 HNRNPA1P11 heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 18 18 18 q22.3 67137329 67138282 + 68436482 68437438 + 70285502 70286455 + 100128044 ABBA01056309;AC011208;AMYH01009091;NG_022497 pseudo 39129 INFERRED 6480993 HNRNPA1P18 heterogeneous nuclear ribonucleoprotein A1 pseudogene 18 13 68875737 68877434 - 100874400 ABBA01050294;AL356954;AMYH01005190;NG_032303 pseudo 39445 INFERRED 4145401 HNRNPA1P13 heterogeneous nuclear ribonucleoprotein A1 pseudogene 13 5 5 5 q31.1 131889334 131890296 + 135787522 135793556 + 135764581 135765543 + 19240791 100131130 ABBA01068716;AC112178;AMYH01015630;NG_021898 pseudo 39131 INFERRED 6480994 HNRNPA1P19 heterogeneous nuclear ribonucleoprotein A1 pseudogene 19 17 20674379 20674736 - 100874402 ABBA01050451;AC126365;AMYH01008263;NG_032318 pseudo 39537 INFERRED 5013863 HNRNPA1P21 heterogeneous nuclear ribonucleoprotein A1 pseudogene 21 3 3 3 p22.2 39318064 39318955 + 39351380 39352471 + 39376477 39377368 + 12551893 344697 ABBA01024806;AC104850;AMYH01013099;NG_002728 1795500;2113716 CCR8;CCR8_521 HNRNPA1P pseudo 39539 INFERRED 1605285 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1-like 2 13 13 13 q14.3 34177478 34203792 + 52089606 52115920 + 53191605 53217919 + 6480464;6907045 14702039;12477932;21182205;22939629;20360068;21906983;22536838;22505724 144983 Q32P51 ABBA01037066;AK091082;AK094423;AK123081;AK123159;AK126454;AL137058;AMYH01005126;BC082242;BC108266;BQ425201;BX477483;CD523364;CH471124;NM_001011724;NM_001011725 AAI08267;EAW52040;EAW52041;EAW52042;NP_001011724;NP_001011725;Q32P51 Hs.447506 1646812;1702606;2151435 A008Q48;D13S750;DXS8003 MGC102957 OTTHUMP00000018460;heterogeneous nuclear ribonucleoprotein A1-like 2;hnRNP A1-like 2;hnRNP core protein A1-like 2 protein-coding ENSG00000139675 27067 17300 VALIDATED 1345278 HNRNPA1P2 heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 6 6 6 p21.32 33860286 33861409 + 32401353 32402265 + 32293175 32294298 + 100131609 ABBA01038109;AL671511;AL845557;AMYH01016237;BX001039;BX119999;BX927180;CR751604;CR759773;CT009614;NG_008818 HNRPA1P2;dJ372B18.1 pseudo 13958 INFERRED 5013927 HNRNPA1P22 heterogeneous nuclear ribonucleoprotein A1 pseudogene 22 3 3 3 p22.1 42868762 42869704 + 42905823 42906802 + 42930853 42931795 + 729102 ABBA01024762;AC099329;AMYH01013115;NG_022249 pseudo 39540 INFERRED 5013936 HNRNPA1P20 heterogeneous nuclear ribonucleoprotein A1 pseudogene 20 3 3 3 q24 146298285 146299242 - 149366810 149367773 - 147884126 147885083 - 344741 ABBA01058956;AC025566;AMYH01013566;NG_022223 pseudo 39538 INFERRED 5013923 HNRNPA1P23 heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 3 3 3 q21.1 120446089 120447083 + 123519146 123520312 + 122036456 122037450 + 100130002 ABBA01016471;AC083798;AMYH01013430;NG_022268 pseudo 39541 INFERRED 4145505 HNRNPA1P16 heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 17 17 17 p13.3 2226165 2227456 + 2154506 2158104 + 2210049 2211340 + 12477932 440396 ABBA01054700;AL450226;AMYH01008011;NG_009621 pseudo 39134 INFERRED 5013925 HNRNPA1P26 heterogeneous nuclear ribonucleoprotein A1 pseudogene 26 X X X q22 100629182 100630159 - 99996948 99998125 - 100109564 100111430 - 664722 ABBA01064124;AMYH01022723;DQ314883;NG_005517;NG_012567;Z83819 HNRPA1P6 pseudo 39544 INFERRED 5013922 HNRNPA1P25 heterogeneous nuclear ribonucleoprotein A1 pseudogene 25 X X X q13.2 73976428 73977360 - 73609575 73667308 - 73692506 73693852 - 100131983 ABBA01059555;AC004073;AMYH01022615;NG_011641;NG_028960 1702004;1702072 DXS128;GDB:600880 pseudo 39543 INFERRED 6480983 HNRNPA1P24 heterogeneous nuclear ribonucleoprotein A1 pseudogene 24 3 149717432 149718477 + 100874396 ABBA01058936;AC117395;AMYH01013573;NG_032319 pseudo 39542 INFERRED 5013877 HNRNPA1P29 heterogeneous nuclear ribonucleoprotein A1 pseudogene 29 13 13 74895636 74896493 - 94047229 94048086 - 100421424 ABBA01027222;AL450425;AMYH01005297;NG_024875 pseudo 39547 INFERRED 1354354 HNRNPA1P3 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 20 20 20 q13.12 41084775 41085435 - 43807683 43808347 - 44374198 44374859 - 170524 ABBA01052665;AL050348;AMYH01011938;NG_001041 HNRPA1P3;dJ447F3.1 pseudo 16567 INFERRED 5013876 HNRNPA1P31 heterogeneous nuclear ribonucleoprotein A1 pseudogene 31 13 13 q31.1 62094908 62095989 - 81192905 81194261 - 100506925 ABBA01021706;AL390857;AMYH01005235;NG_028977 FLJ31359 pseudo 39549 INFERRED 7205018 HNRNPA1P32 heterogeneous nuclear ribonucleoprotein A1 pseudogene 32 10 p11.23 30806783 30807790 - 645940 ABBA01034342;AL161651;AMYH01002217;NG_030272 pseudo 44958 INFERRED 7246715 HNRNPA1P34 heterogeneous nuclear ribonucleoprotein A1 pseudogene 34 100996501 ABBA01012257;AC007436;AMYH01004243 pseudo 48763 MODEL 7246621 HNRNPA1P35 heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 645691 ABBA01062530;AC007272;AMYH01011401;NG_021599 pseudo 48764 INFERRED 7246864 HNRNPA1P36 heterogeneous nuclear ribonucleoprotein A1 pseudogene 36 100128836 ABBA01004050;AC132219;AMYH01018830;NG_030276 pseudo 48765 INFERRED 5013920 HNRNPA1P28 heterogeneous nuclear ribonucleoprotein A1 pseudogene 28 X X q24 118809487 118810446 + 118354745 118355704 + 100288038 ABBA01036708;AC004835;AMYH01022880;NG_022695 2055174 REN98751 pseudo 39546 INFERRED 5013931 HNRNPA1P30 heterogeneous nuclear ribonucleoprotein A1 pseudogene 30 13 13 13 q12.11 2584033 2585752 - 20420090 20421738 - 21522085 21523798 - 440125 ABBA01068594;AL356285;AMYH01004952;NG_011345 pseudo 39548 INFERRED 7246229 HNRNPA1P39 heterogeneous nuclear ribonucleoprotein A1 pseudogene 39 402112 ABBA01062187;AC018470;AMYH01011279;NG_021539 pseudo 48768 INFERRED 1602034 HNRNPA1P4 heterogeneous nuclear ribonucleoprotein A1 pseudogene 4 8 8 8 q21.13 79207735 79209217 - 83365593 83369814 - 83203143 83204625 - 389674 ABBA01004044;AC022260;AC060765;AC069359;AMYH01018831;NG_005789 HNRPA1P4 APPROVED pseudo 32234 INFERRED 7246800 HNRNPA1P40 heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 100129920 ABBA01017492;AP001085;NG_021823 pseudo 48769 INFERRED 7246246 HNRNPA1P41 heterogeneous nuclear ribonucleoprotein A1 pseudogene 41 100128701 ABBA01065418;AL158147;AMYH01019201;NG_009758 pseudo 48770 VALIDATED 1318867 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008] 5 5 5 q31 133208508 133211474 - 137114972 137117938 - 137087073 137090039 - 1580863;6480464 7585247;12226669;19165527;15782174;15635413;15592455;15489334;12477932;12456657;11161817;8889549;8889548;8325628;8012384;1602151;21145461;16169070;17215244;17643375;21182205;22863883;23184937;21110914;22939629;16196087;17314511;18029348;17620599;19322201;21628590;18457437;20360068;21900206;19471022;21139048;21890473;21906983;22505724 10949 Q13151 AA081021;AA442538;ABBA01068704;AC106791;AMYH01015637;BC001008;BC007271;BC009284;BC011972;BC012490;BC012980;BC018800;BC018949;BC019271;BC028976;BC030249;BF445078;BM968394;CH471062;CR456986;HB887001;HC944410;L10372;NM_006805;U23803;Z61116 AAA65094;AAH01008;AAH07271;AAH09284;AAH11972;AAH12980;AAH18949;AAH19271;AAH28976;AAH30249;CAG33267;CBF67657;CBU92531;EAW62182;NP_006796;Q13151 Hs.645902;Hs.96996 1650485;1670084;1671508;1743185;2139842;2139844;2218780;5021308 A006F37;AA858784;D5F121S1;G20772;HNRPA0_2045;RH12646;RH70163;RH79130 HNRPA0 OTTHUMP00000159432;heterogeneous nuclear ribonucleoprotein A0;hnRNA binding protein;hnRNP A0 APPROVED protein-coding ENSG00000177733 5030 17112 609409 REVIEWED 7246467 HNRNPA1P42 heterogeneous nuclear ribonucleoprotein A1 pseudogene 42 100287266 ABBA01033243;AL590682;AMYH01001875;NG_022832 pseudo 48771 INFERRED 7246759 HNRNPA1P43 heterogeneous nuclear ribonucleoprotein A1 pseudogene 43 400769 ABBA01068480;AL449264;AMYH01000969;NG_022734 pseudo 48772 INFERRED 7246798 HNRNPA1P44 heterogeneous nuclear ribonucleoprotein A1 pseudogene 44 100421432 ABBA01038838;AC084854;AMYH01006720;NG_025327 pseudo 48774 INFERRED 7246760 HNRNPA1P45 heterogeneous nuclear ribonucleoprotein A1 pseudogene 45 100130660 ABBA01038504;AC019288;AMYH01006542;NG_022125 pseudo 48775 INFERRED 7246351 HNRNPA1P37 heterogeneous nuclear ribonucleoprotein A1 pseudogene 37 6 5609463 5610431 - 100421379 ABBA01022009;AL022097;AMYH01016053;NG_025781;NG_033003 pseudo 48766 INFERRED 7246352 HNRNPA1P46 heterogeneous nuclear ribonucleoprotein A1 pseudogene 46 100421399 ABBA01027658;AL713866;AMYH01001583;NG_027029 pseudo 48776 INFERRED 7246847 HNRNPA1P38 heterogeneous nuclear ribonucleoprotein A1pseudogene 38 100421384 ABBA01013690;AC100803;AMYH01019074;NG_026136 pseudo 48767 INFERRED 7246750 HNRNPA1P47 heterogeneous nuclear ribonucleoprotein A1 pseudogene 47 100287191 ABBA01062428;AC068129;AMYH01011372;NG_021596 pseudo 48777 INFERRED 7246409 HNRNPA1P51 heterogeneous nuclear ribonucleoprotein A1 pseudogene 51 729366 ABBA01062661;AC017081;AMYH01011439;NG_021550 pseudo 48781 INFERRED 7246619 HNRNPA1P48 heterogeneous nuclear ribonucleoprotein A1 pseudogene 48 2836799 642659 ABBA01066464;AC084058;AMYH01007668;NG_005530 pseudo 48778 INFERRED 7246761 HNRNPA1P52 heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 645001 ABBA01040813;AC020956;AMYH01009820;NG_030273 pseudo 48782 INFERRED 7246538 HNRNPA1P53 heterogeneous nuclear ribonucleoprotein A1 pseudogene 53 728732 ABBA01028652;AC015691;AMYH01003364;NG_021771 pseudo 48783 INFERRED 7246802 HNRNPA1P54 heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 1 179425455 179426468 - 100421398 ABBA01027813;AL451075;AMYH01001532;NG_027023;NG_033075 pseudo 48784 INFERRED 7246749 HNRNPA1P55 heterogeneous nuclear ribonucleoprotein A1 pseudogene 55 642958 ABBA01022994;AC097709;AMYH01014303;NG_022013 pseudo 48785 INFERRED 7246859 HNRNPA1P56 heterogeneous nuclear ribonucleoprotein A1 pseudogene 56 391670 ABBA01063376;AC114801;AMYH01014323;NG_022016 pseudo 48786 INFERRED 7246622 HNRNPA1P58 heterogeneous nuclear ribonucleoprotein A1 pseudogene 58 100289286 ABBA01022314;AL032822;AL445196;AMYH01016148;NG_022348 pseudo 48788 INFERRED 7246540 HNRNPA1P59 heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 730246 ABBA01027493;AC096632;AMYH01001652;NG_022824 pseudo 48789 INFERRED 7246469 HNRNPA1P60 heterogeneous nuclear ribonucleoprotein A1 pseudogene 60 120364 ABBA01039829;AC009294;AMYH01004028;NG_021803 pseudo 48790 INFERRED 7246834 HNRNPA1P61 heterogeneous nuclear ribonucleoprotein A1 pseudogene 61 100288283 ABBA01074909;AC093393;AMYH01010241;NG_021559 pseudo 48791 INFERRED 7246701 HNRNPA1P63 heterogeneous nuclear ribonucleoprotein A1 pseudogene 63 645436 ABBA01074712;AC099796;AMYH01000636;NG_022780 pseudo 48793 INFERRED 7246410 HNRNPA1P64 heterogeneous nuclear ribonucleoprotein A1 pseudogene 64 100129325 ABBA01074366;AL596276;AMYH01000732;NG_032722 pseudo 48794 INFERRED 7246122 HNRNPA1P50 heterogeneous nuclear ribonucleoprotein A1 pseudogene 50 728170 ABBA01053391;AC026111;AMYH01004657;NG_021730 pseudo 48780 INFERRED 7246204 HNRNPA1P66 heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 391378 ABBA01075407;AC096664;AC114748;AMYH01010396;NG_021502 pseudo 48796 INFERRED 7246583 HNRNPA1P67 heterogeneous nuclear ribonucleoprotein A1 pseudogene 67 728019 ABBA01022983;AC096728;AMYH01014296;NG_022062 pseudo 48797 INFERRED 7246801 HNRNPA1P68 heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 100421397 ABBA01045434;AC104506;AMYH01000826;NG_026964 pseudo 48798 INFERRED 7246308 HNRNPA1P71 heterogeneous nuclear ribonucleoprotein A1 pseudogene 71 100421433 ABBA01038561;AC018515;AMYH01006505;NG_025372 pseudo 48801 INFERRED 1347288 HNRNPA1P7 heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 18 18 18 q12.1 26798422 26800153 - 28245369 28247298 - 29991469 29993200 - 2836799 388275 ABBA01022486;AC021224;AMYH01008929;NG_005529;NG_030329 HNRPA1L3 APPROVED pseudo 31015 INFERRED 7246846 HNRNPA1P70 heterogeneous nuclear ribonucleoprotein A1 pseudogene 70 17643375 341333 ABBA01026561;AC005294;AMYH01004559;NG_021724 pseudo 48800 INFERRED 7246674 HNRNPA1P73 heterogeneous nuclear ribonucleoprotein A1 pseudogene 73 100129606 AACC02000007;ABBA01056768;AC004996;AMYH01017133;CH236948 pseudo 48803 MODEL 7246799 HNRNPA1P77 heterogeneous nuclear ribonucleoprotein A1 pseudogene 77 100421378 ABBA01024736;AC098649;AMYH01013124;NG_025692 pseudo 48807 INFERRED 7246762 HNRNPA1P74 heterogeneous nuclear ribonucleoprotein A1 pseudogene 74 100421430 ABBA01039038;AC022302;AMYH01006659;NG_025316 pseudo 48804 INFERRED 5490909 HNRNPA1P9 heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 7 87150777 87151728 + 100421389 AACC02000015;ABBA01045868;AC005068;AMYH01017669;CH236949;NG_026603 pseudo 39127 INFERRED 4891179 HNRNPA1P5 heterogeneous nuclear ribonucleoprotein A1 pseudogene 5 15 q23 67920106 67921807 + 100506712 ABBA01038795;AC103753;AMYH01006733;NG_028964;NG_029143 pseudo 15787 INFERRED 5013875 HNRNPA1P27 heterogeneous nuclear ribonucleoprotein A1 pseudogene 27 X X X q22 100661704 100662403 - 100029474 100030373 - 100142918 100143617 - 12477932 664721 ABBA01064123;AMYH01022723;BC045662;NG_005516;Z83819 Hs.464869 5020946;5038296 L17971;REN98749 HNRPA1P5 pseudo 39545 INFERRED 7205520 HNRNPA1P33 heterogeneous nuclear ribonucleoprotein A1 pseudogene 33 10 q11.22 47133295 47133836 - 12477932;2836799 728643 ABBA01005368;AC244230;AL390716;AMYH01002426;BC061889;BC112995;BC128038;NR_003277 Hs.711067 pseudo ENSG00000213412 44990 PROVISIONAL 7246216 HNRNPA3P10 heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 100421413 ABBA01031616;AC140060;AMYH01004468;NG_024011 pseudo 48756 INFERRED 7246537 HNRNPA3P11 heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 100421431 ABBA01038995;AC090532;AMYH01006677;NG_025320 pseudo 48757 INFERRED 7246873 HNRNPA3P12 heterogeneous nuclear ribonucleoprotein A3 pseudogene 12 100421395 ABBA01074729;AL031427;AMYH01000632;NG_026941 pseudo 48758 INFERRED 7246748 HNRNPA3P13 heterogeneous nuclear ribonucleoprotein A3 pseudogene 13 15776420 441026 ABBA01063423;AC095049;AMYH01014351;NG_005584 pseudo 48759 INFERRED 7246599 HNRNPA3P14 heterogeneous nuclear ribonucleoprotein A3 pseudogene 14 729817 ABBA01074355;AC095035;AMYH01000741;NG_022787 pseudo 48760 INFERRED 7246832 HNRNPA3P16 heterogeneous nuclear ribonucleoprotein A3 pseudogene 16 100421451 ABBA01018676;AC015864;AMYH01008999;NG_026331 pseudo 48762 INFERRED 1350329 HNRNPA1P6 heterogeneous nuclear ribonucleoprotein A1 pseudogene 6 1 1 1 p32.2 56798563 56800087 - 58286109 58287611 - 58513521 58515045 - 12477932;1733858 729423 ABBA01074667;AL445193;AMYH01000650;BC121134;NG_009623 Hs.657333 2137899 G16323 HNRNPA1L;HNRNPA1L1;HNRPA1L APPROVED pseudo 5032 INFERRED 1603170 HNRNPA3P2 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 20 20 20 q11.23 31955879 31956923 + 34682226 34683241 + 35248805 35249849 + 170526 ABBA01006583;AL050318;AMYH01011882;NG_001042;NG_031823 HNRPA3P;HNRPA3P2;dJ977B1.2 pseudo 16605 INFERRED 5130446 HNRNPA3P3 heterogeneous nuclear ribonucleoprotein A3 pseudogene 3 X X X q27.1 139484752 139486318 + 138942029 138943795 + 139114463 139116029 + 15776420 643689 AL589987;AMYH01023061;NG_005582 pseudo 39772 INFERRED 5130444 HNRNPA3P5 heterogeneous nuclear ribonucleoprotein A3 pseudogene 5 13 13 13 q21.32 47262135 47263354 - 65259579 65260996 - 66361676 66362895 - 15776420 387933 ABBA01050272;AL354775;AMYH01005183;NG_005585 pseudo 39774 INFERRED 5130447 HNRNPA3P4 heterogeneous nuclear ribonucleoprotein A3 pseudogene 4 6 6 6 p12.3 49672504 49674051 - 48224095 48225840 - 48116234 48117781 - 15776420 389395 ABBA01050604;AL353138;AMYH01016334;NG_005583 pseudo 39773 INFERRED 1350276 HNRNPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 This locus shares sequence similarity with heterogeneous nuclear ribonuclear proteins and represents an apparent transcribed pseudogene of the HNRPA3 gene, which maps to chromosome 2. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 40286436 40289441 - 43602866 43605871 - 44282860 44285865 - 6480464 15776420;11886857;8101480;8093642;20562859;20716340;17643375;23472165 10151 ABBA01050012;AL355989;AMYH01002293;NR_002726;S63912 Hs.632956 1648887;5021488 D10S2289;G15955 D10S102;FBRNP;HNRPA3;HNRPA3P1 APPROVED pseudo ENSG00000226790 13729 05644 VALIDATED 4737722 HNRNPA1P8 heterogeneous nuclear ribonucleoprotein A1 pseudogene 8 7 7 7 q21.11 79312251 79318390 + 84446148 84452287 + 84612811 84614155 + 11181995 402562 AACC02000015;ABBA01045886;AC004957;AMYH01017662;CH236949;CH471091;NG_006966 EAW76978 pseudo 39126 INFERRED 1348965 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is one of the most abundant core proteins of hnRNP complexes and it is localized to the nucleoplasm. This protein, along with other hnRNP proteins, is exported from the nucleus, probably bound to mRNA, and is immediately re-imported. Its M9 domain acts as both a nuclear localization and nuclear export signal. The encoded protein is involved in the packaging of pre-mRNA into hnRNP particles, transport of poly A+ mRNA from the nucleus to the cytoplasm, and may modulate splice site selection. It is also thought have a primary role in the formation of specific myometrial protein species in parturition. Multiple alternatively spliced transcript variants have been found for this gene but only two transcripts are fully described. These variants have multiple alternative transcription initiation sites and multiple polyA sites. [provided by RefSeq, Jul 2008] 12 12 q13.1 52960755 52965297 + 54674488 54679030 + 1580863;6480464;6907045 22628224;22939629;21832049;14667819;15231747;8521471;12226669;9731529;19349988;19339352;19282454;19004954;18846111;18562319;18391021;17950949;17898077;17884807;17558416;17353911;17287399;17229681;17110431;17081983;16990281;16916647;16603717;16600502;16097034;15782174;15703818;15703079;15671034;15635413;15592455;15525641;15489334;15342234;15208309;14729942;14703516;14690413;14645369;14633690;14611647;14559993;12945950;12927788;12799433;12665590;12612063;12477932;12458794;12419255;12212851;12060656;11991638;11893730;11884611;11825891;11790298;11779509;11546873;10843177;10323862;10212141;9925777;9891755;9164463;9144189;9115444;8889548;8883365;8473331;8288564;7769000;7730395;7505766;3023065;2836799;2760922;2176620;1733858;1691095;11313474;11003644;10772858;8663146;10383403;15861128;17611602;21145461;21319273;17803295;21399625;19913121;20628086;16169070;17289661;17643375;18029348;18809582;19430204;19667073;19710015;19715280;19737937;19808671;19926721;20010808;20133837;20639884;16159877;20716340;20974848;16449650;20872967;20978194;16177791;17264152;21627027;21120954;15492215;23184937;23383273;21398516;21454539;21424008;23035981;21182205;22863883;22990118;16196087;20000738;15047060;19135240;19928837;12777385;15161933;15604093;15848144;21081666;21548758;18457437;19596686;20639865;21858080;21942715;21987572;22079093;22178446;21139048;21890473;21906983;12565831;16230076;19101556;22821376;22983828;23394998;17332742;21110914;22285803;22536838;22132154;22227431;22325350;10913197;14704337;17620599;22446626;19322201;21628590;16000324;23106379;19738201;21642987;21963094;21988832;22053931;22365833;22623428;22751105;22810585;23000965;23438482;23455423;15161980;15210956;21853274;22174317;22187150;22505724;22944692 3178 F8VTQ5;F8VYN5;F8VZ49;F8W646;F8W6I7;H0YH80;P09651 ABBA01008369;AC078778;AK129814;AK291113;AK298176;AK303303;AK308679;AMYH01004488;BC002355;BC004945;BC009600;BC012158;BC020442;BC033714;BC035253;BC052296;BC070315;BC071945;BC073162;BC074502;BC078165;BC103707;BC104236;BC104237;BC121133;BQ277208;BU501222;BX425482;CD705336;CF541085;CH471054;NM_002136;NM_031157;U00947;X04347;X06747;X12671;X79536 AAH02355;AAH04945;AAH09600;AAH12158;AAH33714;AAH52296;AAH70315;AAH71945;AAH73162;AAH74502;AAI03708;AAI04237;AAI04238;AAI21134;BAF83802;BAG60447;BAG64377;CAA27874;CAA29922;CAA31191;CAA56072;EAW96761;EAW96762;EAW96763;EAW96764;EAW96765;EAW96766;EAW96767;EAW96768;EAW96769;EAW96770;NP_002127;NP_112420;P09651 Hs.546261;Hs.655424 2169287;5113455 D12S1994;SHGC-2501 HNRPA1;HNRPA1L3;MGC102835;hnRNP A1;hnRNP-A1 OTTHUMP00000241883;OTTHUMP00000241884;OTTHUMP00000241885;OTTHUMP00000241886;OTTHUMP00000241887;OTTHUMP00000241888;OTTHUMP00000241889;OTTHUMP00000241890;OTTHUMP00000241891;Putative heterogeneous nuclear ribonucleoprotein A1-like 3;helix-destabilizing protein;heterogeneous nuclear ribonucleoprotein A1;heterogeneous nuclear ribonucleoprotein A1B protein;heterogeneous nuclear ribonucleoprotein B2 protein;heterogeneous nuclear ribonucleoprotein core protein A1;hnRNP A1-like 3;hnRNP core protein A1;hnRNP core protein A1-like 3;nuclear ribonucleoprotein particle A1 protein;single-strand DNA-binding protein UP1;single-strand RNA-binding protein APPROVED protein-coding ENSG00000135486 5031 01242 164017 REVIEWED 7244108 HNRNPA3P7 heterogeneous nuclear ribonucleoprotein A3 pseudogene 7 100421357 ABBA01026241;AC008625;AMYH01015729;NG_024635 pseudo 48496 INFERRED 7244080 HNRNPA3P8 heterogeneous nuclear ribonucleoprotein A3 pseudogene 8 100129557 ABBA01031038;AC106726;AMYH01013303;NG_029271 pseudo 48497 INFERRED 7246293 HNRNPA3P9 heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 100421415 ABBA01060908;AL078477;AMYH01003479;NG_024325 pseudo 48755 INFERRED 7246582 HNRNPABP1 heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 390294 ABBA01067796;AC024224;AMYH01004276;NG_021704 pseudo 48744 INFERRED 1343036 HNRNPCP1 heterogeneous nuclear ribonucleoprotein C pseudogene 1 14 14 14 q23.1 39037644 39039456 + 58057405 58059217 + 58987652 58989464 + 319133 ABBA01018262;AL133312;AL135752;AMYH01005762;NG_002511 APPROVED pseudo 20017 INFERRED 7246335 HNRNPCP10 heterogeneous nuclear ribonucleoprotein C pseudogene 10 100129229 ABBA01054466;AL159988;AMYH01023155;NG_030279 pseudo 48821 INFERRED 7246863 HNRNPCP3 heterogeneous nuclear ribonucleoprotein C pseudogene 3 646956 ABBA01060605;AC011797;AMYH01006845;NG_022134 pseudo 48815 INFERRED 7246833 HNRNPCP2 heterogeneous nuclear ribonucleoprotein C pseudogene 2 2 190787895 190789616 + 11181995 653447 ABBA01062381;AC019178;AMYH01011344;CH471058;NG_006653 EAX10881;EAX10882 pseudo 48814 INFERRED 7246123 HNRNPCP4 heterogeneous nuclear ribonucleoprotein C pseudogene 4 100421828 ABBA01006810;AC009121;AMYH01007152;NG_026395 pseudo 48816 INFERRED 7244062 HNRNPA3P6 heterogeneous nuclear ribonucleoprotein A3 pseudogene 6 12477932;15776420 653115 ABBA01030983;AC117481;AMYH01013287;NG_005586 pseudo 48495 INFERRED 7246423 HNRNPCP6 heterogeneous nuclear ribonucleoprotein C pseudogene 6 100421794 ABBA01017342;AMYH01003842;AP000857;NG_024391 pseudo 48817 INFERRED 7246541 HNRNPCP7 heterogeneous nuclear ribonucleoprotein C pseudogene 7 9847074 100127907 ABBA01027977;AC022202;AMYH01017430;NG_012728 pseudo 48818 INFERRED 7246858 HNRNPCP8 heterogeneous nuclear ribonucleoprotein C pseudogene 8 100131842 ABBA01017314;AMYH01003852;AP001528;NG_021828 pseudo 48819 INFERRED 7246557 HNRNPCP9 heterogeneous nuclear ribonucleoprotein C pseudogene 9 100130196 ABBA01074515;AL139258;AMYH01000692 pseudo 48820 MODEL 1321287 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008] 7 7 p15 26196081 26206938 - 26229556 26240413 - 1580863;6480464 20471030;15659580;16294306;18377426;17004321;12226669;9731529;2557628;18461365;18391021;18032920;17991743;17067748;16964243;16859514;16775011;16464861;16344560;15782174;15703215;15567486;15375589;15302935;15147968;14692562;14608468;14559993;12945950;12927788;12509629;12477932;12243756;12097415;12065097;12060656;11991638;11790298;11771750;11517223;11510693;10978504;10772824;10441480;10381337;9761751;9187682;8029005;7789969;7503735;3733753;1833625;1699755;1602151;15518812;17267499;17611602;21145461;20232340;21175803;20946641;16159877;16226712;20604928;15975576;17289661;17643375;18029348;19609729;19934309;20010808;20133837;20181627;20201926;20978319;22628224;22939629;21865391;15047060;19928837;20618440;21547579;16196087;20000738;21321999;15848144;17955473;21081666;21642356;21139048;21890473;21906983;18457437;20639865;21858080;21900206;21942715;22079093;22178446;19471022;21907836;22205302;17332742;21110914;21900255;17620599;18519039;16009940;21575865;21628590;19738201;19805454;20462248;21565611;21642987;21963094;22053931;22113938;22623428;22810585;23000965;23184937;23246001;23455423;22484615;16000324;12565831;16230076;23398456;23593027;21182205;22372738;22863883;22990118;20016921;21853274;22174317;22187150;22325225;22505724;22944692 3181 P22626 AACC02000007;ABBA01056745;AC004520;AC010677;AK026373;AK129839;AK289429;AMYH01017126;BC000506;BC045724;BX537494;BX538099;BX641084;CH236948;CH471073;D28877;DB244417;M29064;M29065;NG_029680;NM_002137;NM_031243;U09121;U09123 AAA36574;AAA60271;AAB60650;AAH00506;BAA06031;BAA06032;BAF82118;EAW93834;EAW93835;EAW93836;EAW93837;EAW93838;EAW93839;EAW93840;EAW93841;NP_002128;NP_112533;P22626 Hs.487774 1647943;1665406;1696692;1696878;1776777;2121592;2135955;2135957;2189333 A005W29;D7S714;G20554;G49184;HNRPA2B1;MARC_1211-1212:991931105:1;RH18364;SHGC-56024;SHGC-83036 DKFZp779B0244;FLJ22720;HNRNPA2;HNRNPB1;HNRPA2;HNRPA2B1;HNRPB1;RNPA2;SNRPB1 OTTHUMP00000122511;OTTHUMP00000122512;OTTHUMP00000202465;OTTHUMP00000202466;heterogeneous nuclear ribonucleoprotein B1;heterogeneous nuclear ribonucleoproteins A2/B1;hnRNP A2 / hnRNP B1;hnRNP A2/B1;nuclear ribonucleoprotein particle A2 protein APPROVED protein-coding ENSG00000122566 5033 02526 600124 REVIEWED 1343696 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 2 2 2 q31.2 171679860 171691117 + 177785668 177796931 + 178077422 178088685 + 625404;737633;1580863;6480464;6907045 11886857;12477932 8101480;17353931;12226669;17919748;16344560;15815621;15776420;15489334;11991638;8093642;21145461;14559993;18029348;20600361;17620599;22546510;22586326;22939629;21182205;16196087;17332742;21110914;15848144;20360068;20639865;21081666;21942715;22108332;22178446;19471022;21139048;21890473;21906983;21907836;22145905;21628590;19738201;19805454;20085233;20462248;21642987;22623428;22751105;23000965;23151878;23184937;15161980;21853274;22174317;22505724;22797925 220988 H7C1J8;P51991 ABBA01062230;AC079305;AF517524;AK293125;AK303208;AK304687;AK316434;AL832246;AMYH01011297;AY363225;BC032437;BC061894;BC064494;BC069022;BC080591;BC112027;BC113470;BX647217;CH471058;DB093606;NM_194247 AAH80591;AAI12028;AAI13471;AAM51824;AAQ63629;AAY14709;BAG56677;BAG64298;BAG65458;BAH14805;EAX11063;EAX11064;EAX11065;EAX11066;NP_919223;P51991 Hs.516539 1644463;1672062;1687363;1850326;1850328;2125327;2155206;5021488;5109605 A005V30;D2S1713E;D2S2652;G15955;G20537;RH69975;RH78869;RH91765;WI-16370 2610510D13Rik;D10S102;FBRNP;HNRPA3;MGC138232;MGC142030 OTTHUMP00000163352;OTTHUMP00000205091;OTTHUMP00000205092;OTTHUMP00000205139;OTTHUMP00000205141;OTTHUMP00000207979;heterogeneous nuclear ribonucleoprotein A3;hnRNP A3 protein-coding ENSG00000170144 24941 605372 VALIDATED 7246468 HNRNPDLP1 heterogeneous nuclear ribonucleoprotein D-like pseudogene 1 100128595 ABBA01064701;AL365400;AMYH01022694;NG_022680 pseudo 48752 INFERRED 7246503 HNRNPDLP2 heterogeneous nuclear ribonucleoprotein D-like pseudogene 2 100128061 ABBA01004850;AC008070;AC019044;AMYH01011202;NG_021589 pseudo 48753 INFERRED 7246188 HNRNPDLP4 heterogeneous nuclear ribonucleoprotein D-like pseudogene 4 100421657 ABBA01020786;AC008751;AMYH01010031;NG_024209 pseudo 48808 INFERRED 1352411 HNRNPDP1 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1 X X X q11.1 63610724 63612301 + 63180749 63181984 + 63263882 63265459 + 8661052 8251 ABBA01066850;ABBA01066851;AL356003;AMYH01022493;NG_000874 5021964 Hnrnpd AUF1B;AUF1P;HNRPDP APPROVED pseudo 5038 INFERRED 1603848 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C-like 1 1 1 1 p36.21 12020235 12021552 - 12829848 12831165 - 12907261 12908578 - 6480464 21145461;16710414;12477932;18457437;21903422;22178446;22939629;21110914;14559993;19471022;21906983;21628590;22505724 343069 O60812;Q6PKD2 ABBA01003099;AL022101;AMYH01000261;BC002696;BC137258;BC171866;BX283835;CH471130;NM_001013631 AAH02696;AAI37259;AAI71866;EAW71752;NP_001013653;O60812 Hs.502617 HNRPCL1;RP5-845O24.4 OTTHUMP00000001928;heterogeneous nuclear ribonucleoprotein C-like 1;hnRNP C-like-1;hnRNP core protein C-like 1 protein-coding ENSG00000179172 29295 15466 VALIDATED 7246871 HNRNPFP1 heterogeneous nuclear ribonucleoprotein F pseudogene 1 644449 ABBA01023140;AL158216;AMYH01000548;NG_006068 pseudo 48812 INFERRED 7246124 HNRNPCP5 heterogeneous nuclear ribonucleoprotein C pseudogene 5 12477932;17643375;21139048;21890473;21906983;21963094;22505724;23000965 440563 B2RXH8 ABBA01018840;AMYH01000262;BC144551;BC157858;BC171863;BX640550;NM_001136561 AAI44552;AAI57859;AAI71863;NP_001130033 Hs.711869 heterogeneous nuclear ribonucleoprotein C-like protein-coding 48813 VALIDATED 7246485 HNRNPH1P1 heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 100132803 ABBA01021065;AL135914;AMYH01016803;NG_022337 pseudo 48751 INFERRED 7246334 HNRNPH1P2 heterogeneous nuclear ribonucleoprotein H1 pseudogene 2 100129368 ABBA01066410;AC239921;AL080239;AMYH01023125;NG_028793 pseudo 48810 INFERRED 7246215 HNRNPH1P3 heterogeneous nuclear ribonucleoprotein H1 pseudogene 3 15837790 402216 ABBA01015751;ABBA01015752;AC016632;AMYH01015092;NG_021850 pseudo 48811 INFERRED 730896 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 173258497 173265171 + 177564114 177570790 + 177631508 177638184 + 1580863;6480464 21145461;8999813;17353931;16964243;15782174;15489334;14722087;14704337;14702039;12692135;12477932;12388589;11937625;11790298;11313474;8895530;8125298;1717314;15324660;17289661;17643375;20211142;21182205;22863883;22939629;20000738;18457437;20360068;21139048;21890473;21906983;21942715;22178446;17332742;21110914;21628590;18029348;23077236;23184937;21853274;22053931;22174317;22505724 3182 D6R9P3;D6RBZ0;D6RD18;Q99729 ABBA01009991;AC136632;AI199152;AK054600;AK097657;AK223425;AMYH01015940;BC001616;BC002625;BC004561;BC009359;BC015556;BC036708;CH471165;M65028;NM_004499;NM_031266;U76713;Z36844 AAA36575;AAC50956;AAH01616;AAH02625;AAH04561;AAH09359;AAH36708;BAC05134;BAD97145;BAG51397;EAW53842;EAW53843;EAW53844;EAW53845;NP_004490;NP_112556;Q99729 Hs.591731;Hs.715055 1647342;1674081;1677420;1725801;1851352;2217438 D5S2662;G62077;HNRPAB_3078;RH67928;STS-M65028;WI-18902 ABBP1;FLJ40338;HNRPAB ABBP-1;APOBEC1-binding protein 1;OTTHUMP00000223971;OTTHUMP00000223972;OTTHUMP00000223973;OTTHUMP00000223974;OTTHUMP00000223975;OTTHUMP00000223976;OTTHUMP00000223977;apobec-1 binding protein 1;apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1-binding protein 1;heterogeneous nuclear ribonucleoprotein A/B;hnRNP A/B;hnRNP type A/B protein APPROVED protein-coding ENSG00000197451 5034 04067 602688 REVIEWED 1320569 HNRNPDL heterogeneous nuclear ribonucleoprotein D-like This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011] 4 4 q21.22 83563371 83570402 - 83343717 83351378 - 6480464 9538234;17353931;10072754;18381662;18095154;17592041;15302935;15190078;14702039;12477932;11705999;9847074;9524220;19019082;20205790;21145461;16011250;17643375;21300069;8889548;22939629;22990118;20000738;20186120;22360420;20360068;21942715;21139048;21890473;21906983;21110914;19322201;21575865;21628590;21853274;22174317;22505724;19738201;21642987;21963094;22053931;22113938;22623428;23000965;23151878 9987 O14979 AB017018;AB017019;AB066484;ABBA01063435;AC110787;AC124016;AK057480;AK294683;AK300122;AMYH01014353;AY453824;BC007392;BC011714;BC018961;BC071944;CH471057;CK300994;CR407623;D89092;D89678;HB886865;HC944274;NG_029681;NM_001207000;NM_031372;NR_003249;X75683 AAH07392;AAH11714;AAH71944;AAR17782;AAY40914;ABM83797;ABM87118;BAA22860;BAA24361;BAA75239;BAA75240;BAA75241;BAB62188;BAG57844;BAG61914;CAG28551;CBF67589;CBU92463;EAX05885;EAX05886;EAX05887;EAX05888;EAX05889;EAX05890;EAX05891;NP_001193929;NP_112740;O14979 Hs.527105;Hs.707013 1674133;1680118;1680333;2133114;2133116;2149295 A006C21;G20700;RH68197;RH92417;SHGC-50505;SHGC-67337 HNRNP;JKTBP;JKTBP2;laAUF1 A+U-rich element RNA binding factor;AU-rich element RNA-binding factor;JKT41-binding protein;OTTHUMP00000160812;OTTHUMP00000219470;heterogeneous nuclear ribonucleoprotein D-like;hnRNP D-like;hnRNP DL;protein laAUF1 APPROVED protein-coding ENSG00000152795 5037 06185 607137 REVIEWED 5135124 HNRNPKP1 heterogeneous nuclear ribonucleoprotein K pseudogene 1 5 5 5 q23.2 122977962 122979340 - 126874609 126878196 - 126847154 126848532 - 389322 ABBA01068878;AC010424;AMYH01015604;NG_021862 pseudo 42374 INFERRED 1320619 HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 14 14 q11.2 20747135 20807478 - 21677295 21737638 - 1580863;6480464;6907045 21738484;19322201;21628590;21145461;21319273;22912744;9731529;16189514;3110598;12226669;19405953;18508286;18494499;18471994;18296503;17159903;17081983;17071612;16960656;16807684;16217013;16010978;15936032;15767428;15731220;15687492;15635413;15494373;15489334;15302935;15082759;14559993;12509468;12482981;12477932;11991638;11877401;11790298;11162094;10629032;10409733;9516488;8473331;8264621;8125298;7821789;7567451;3457372;2587210;2557628;1385725;1380452;10772858;17353931;10964780;12564933;15161933;15848144;17955473;21774814;20601959;19759913;17289661;17643375;19447967;19628962;19740742;20164237;20189623;20473314;11687588;16159877;16226712;20873769;20618440;19167051;18337511;22990118;20462248;23084401;20508642;23374342;17500595;22907752;22939629;16196087;20000738;21139048;21693764;21890473;21903422;21906983;21942715;22079093;22178446;21252943;17332742;18239623;21110914;19471022;22461616;22404445;14704337;17620599;19531213;22446626;17287399;21853274;22174317;22268729;22505724 3183 B4DSU6;B4DY08;G3V251;G3V2D6;G3V2H6;G3V2Q1;G3V3K6;G3V4C1;G3V4M8;G3V4W0;G3V555;G3V575;G3V576;G3V5V7;G3V5X6;Q86U45 AB209527;ABBA01061240;ABBA01061241;AK126950;AK223517;AK225032;AK292619;AK297482;AK298906;AK299923;AK302213;AK312338;AK312382;AL135744;AL833432;AMYH01005594;BC003394;BC007052;BC008364;BC008423;BC066932;BC071943;BC089438;BC092433;BC103758;BC108658;BX161480;BX247961;BX247992;CH471078;CQ834840;D28382;DB449514;M16342;M29063;NG_029011;NM_001077442;NM_001077443;NM_004500;NM_031314;Z70766 AAA36576;AAA52680;AAH03394;AAH07052;AAH08364;AAH08423;AAH66932;AAH89438;AAH92433;AAI03759;AAI08659;ADR82775;BAA05748;BAD92764;BAD97237;BAF85308;BAG35259;BAG35300;BAG54408;BAG59903;BAG61014;BAG61758;BAG63570;CAD61934;CAD62300;CAD62326;CAH05635;EAW66392;EAW66393;EAW66394;EAW66395;EAW66396;EAW66397;EAW66398;EAW66399;EAW66400;NP_001070910;NP_001070911;NP_004491;NP_112604;P07910 Hs.508848;Hs.700762 1664285;1694558;1725229;1769190;1772036;1797690;2121329;2144819;2177480;2183602;5124784 G35991;G36108;G36145;G43228;HNRPC_2223;RH118907;RH66344;RH68331;RH70234;RH80802;WI-19322 C1;C2;HNRNP;HNRPC;MGC104306;MGC105117;MGC117353;MGC131677;SNRPC OTTHUMP00000244316;OTTHUMP00000244317;OTTHUMP00000244318;OTTHUMP00000244319;OTTHUMP00000244320;OTTHUMP00000244321;OTTHUMP00000244322;OTTHUMP00000244323;OTTHUMP00000244325;OTTHUMP00000244326;OTTHUMP00000244327;OTTHUMP00000244328;OTTHUMP00000244329;OTTHUMP00000244330;OTTHUMP00000244331;OTTHUMP00000244332;OTTHUMP00000244333;OTTHUMP00000244334;heterogeneous nuclear ribonucleoproteins C1/C2;hnRNP C1/C2;nuclear ribonucleoprotein particle C1 protein;nuclear ribonucleoprotein particle C2 protein APPROVED protein-coding ENSG00000092199 5035 01243 164020 REVIEWED 733451 HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008] 4 4 q21 83493491 83514173 - 83274467 83295149 - 1580863;6480464 8321232;3754960;12107167;12674497;15231747;16556936;16902409;1433497;10205060;12226669;19074427;19015635;18844578;18842733;18650551;18573886;18240226;18202450;17878526;14769789;22159912;21145461;21319273;17486099;17081983;17030625;16954375;16835382;16494882;16289864;16236267;16155006;16144962;16109718;16094384;15951444;15815621;15782174;15734733;15659558;15514034;15489334;15302935;15257295;14711832;14585195;14559993;12819195;12819194;12477932;12388589;12356764;11903055;11856759;11531333;17626845;11051545;10933876;10900464;10080887;10024518;9632798;9615222;9521873;9234743;8661052;8246982;7673195;20360068;21081666;21799732;20489206;20571027;16341674;19759913;12136087;19454010;20926381;17289661;17643375;18029348;19574297;20102719;21245386;18413351;21135123;22863883;23012480;19738201;21642987;21963094;22365833;22431556;22623428;22751105;23000965;23131833;23151878;23106098;23184937;22939629;16196087;20000738;15047060;22203679;10373504;17370265;18457437;20639865;21139048;21549307;21733716;21890473;21900206;21906983;21942715;21956942;22108332;22134169;21110914;22368252;22086907;17620599;22446626;16335786;18850631;23455922;23463506;23530064;23603392;23398456;19380743;21853274;22053931;22174317;22187150;22505724;22797925 3184 B4DTC3;D6RAF8;D6RBP9;D6RBQ9;D6RD83;D6RF44;F5H6R6;H0Y8G5;H0YA96;Q9UCE8 ABBA01063430;AC124016;AF026126;AF039575;AK057836;AK292707;AK300149;AK303552;AMYH01014353;BC002401;BC023977;BC026015;BF693760;BG180865;BG180941;BG325979;BM825808;BM832779;CH471057;D55671;D55672;D55673;D55674;HB887011;HC944420;M94630;NG_029103;NM_001003810;NM_002138;NM_031369;NM_031370;X03910 AAA35781;AAB96683;AAC23474;AAC23475;AAC23476;AAH02401;AAH23977;AAH26015;AAY40913;ABM83166;ABM86366;BAA09522;BAA09523;BAA09524;BAA09525;BAF85396;BAG61935;BAG64576;CAA27544;CBF67662;CBU92536;EAX05872;EAX05873;EAX05874;EAX05875;EAX05876;EAX05877;EAX05878;EAX05879;EAX05880;EAX05881;EAX05882;EAX05883;NP_001003810;NP_002129;NP_112737;NP_112738;Q14103 Hs.480073 1647822;1660015;1678769;1685099;1685588;1768497;1788792;2114761;2119996;2122279;2161490;2171316;2191463;2191465;2191467;2217440;5021964 D4S1212;G33930;HNRPD_3237;Hnrnpd;MARC_23646-23647:1029444341:1;MARC_23648-23649:1029444924:1;MARC_23650-23651:1029445581:1;RH136938;SHGC-24787;SHGC-31001;SHGC-51763;SHGC-59507;SHGC-59708;SHGC-67254;SHGC-67336;SHGC-67972;STS-N23160 AUF1;AUF1A;HNRPD;P37;hnRNPD0 ARE-binding protein AUFI, type A;AU-rich element RNA-binding protein 1;OTTHUMP00000160798;OTTHUMP00000160799;OTTHUMP00000160800;OTTHUMP00000219401;OTTHUMP00000219403;OTTHUMP00000219469;heterogeneous nuclear ribonucleoprotein D0;hnRNP D0;rna binding protein p45auf1 APPROVED protein-coding 5036 03206 601324 REVIEWED 5135126 HNRNPKP2 heterogeneous nuclear ribonucleoprotein K pseudogene 2 2 2 2 q22.1 130668432 130669818 - 136672709 136674652 - 136956687 136958073 - 389053 ABBA01028152;AC068492;AMYH01011124;NG_021524 pseudo 42375 INFERRED 5135114 HNRNPKP4 heterogeneous nuclear ribonucleoprotein K pseudogene 4 3 3 3 q11.2 94457032 94458421 + 97550894 97553794 + 96068398 96069787 + 644063 ABBA01026949;AC107304;AMYH01013346;NG_022255 1648431 D15S1328 pseudo 42377 INFERRED 6480973 HNRNPKP5 heterogeneous nuclear ribonucleoprotein K pseudogene 5 5 14877771 14878026 - 100874385 ABBA01020641;AC016575;AMYH01014923;NG_032511 pseudo 42378 INFERRED 5135116 HNRNPKP3 heterogeneous nuclear ribonucleoprotein K pseudogene 3 11 11 11 p12 43429984 43437875 - 43239630 43287404 - 43283054 43290919 - 399881 ABBA01060782;AC087276;AC090588;AK126814;AMYH01003518;NR_033868 Hs.446761 2145794 D11S4557 pseudo ENSG00000251557 42376 VALIDATED 1605724 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011] X X q22 100549847 100555777 + 100663121 100669128 + 6480464 21900255;21145461;7499401;12226669;18029348;17081983;16171461;15772651;14980514;14729942;11571276;11054566;10456323;9110171;8425221;8380905;7959728;19913121;20628086;12477932;17643375;18377426;18809582;16344560;21068389;22939629;18781797;21081666;21139048;21890473;21906983;21942715;21987572;21628590;21110914;22145905;17620599;22446626;21853274;22174317;22505724 3188 B4DFK9;P55795 AA758785;ABBA01044979;AK294144;AK298133;AL035422;AMYH01022725;BC130343;BC130345;BM997703;BU167621;CH471115;DA686966;NG_016327;NM_001032393;NM_019597;U01923;U78027 AAB64202;AAI30344;AAI30346;ADR82989;ADR83160;BAG57470;BAG60412;EAX02864;NP_001027565;NP_062543;P55795 Hs.432485 1647027;1702320;1742981;1797696;5493623;5493916 GDB:192499;GDB:226672;HNRPH2_2157;Hnrph2;STS-AA037456;UniSTS:489907 FTP3;HNRPH';HNRPH2;hnRNPH' FTP-3;OTTHUMP00000023682;heterogeneous nuclear ribonucleoprotein H';heterogeneous nuclear ribonucleoprotein H-prime;heterogeneous nuclear ribonucleoprotein H2;hnRNP H';hnRNP H2 APPROVED protein-coding ENSG00000126945 5042 03022 300610 REVIEWED 7246013 HNRNPLP1 heterogeneous nuclear ribonucleoprotein L pseudogene 1 442157 ABBA01022043;AL138878;AMYH01016064;NG_022293 pseudo 48748 INFERRED 7246872 HNRNPLP2 heterogeneous nuclear ribonucleoprotein L pseudogene 2 644390 ABBA01038530;AC027139;AMYH01006521;NG_029295 pseudo 48747 INFERRED 1349083 HNRNPF heterogeneous nuclear ribonucleoprotein F This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 10 10 q11.21 43201071 43224702 - 43881065 43904696 - 1580863;6480464 7499401;9111328;12226669;17081983;16885237;16713569;16424007;16344560;16236267;15635413;15592455;15489334;15302935;15164054;14980514;14702039;12477932;11991638;11827452;11158309;11054566;11003644;10620016;10456323;9858532;7512260;1351868;12388589;19322201;20473970;21628590;16385451;16568080;17220478;18029348;18377426;19244236;19926108;20308064;20308327;20526337;21145461;21319273;22912744;16055720;16159877;17549794;19394292;19454010;21252943;20508642;21182205;22863883;22939629;16196087;17314511;17932509;22132154;21139048;21890473;21906983;21963094;15161933;18781797;20360068;21081666;21625959;21987572;22079093;22178446;21110914;18654987;21900255;17620599;22446626;22586326;17725712;15161980;21853274;22174317;22505724;22797925 3185 B4DKS8;P52597 AB062287;ABBA01050000;AI133166;AK001364;AK296696;AL450326;AL512654;AL542769;AMYH01002289;AW069399;BC001432;BC004254;BC015580;BC016736;BC106008;CH471160;CR976524;DA535143;DA594075;DA679417;DB011453;DB049909;L28010;NM_001098204;NM_001098205;NM_001098206;NM_001098207;NM_001098208;NM_004966 AAC37584;AAH01432;AAH04254;AAH15580;AAH16736;AAI06009;ABM86307;ABW03801;BAB93470;BAG50896;BAG59290;EAW86595;EAW86596;EAW86597;EAW86598;EAW86599;NP_001091674;NP_001091675;NP_001091676;NP_001091677;NP_001091678;NP_004957;P52597 Hs.712955;Hs.808 1797692;1848167;2159372 HNRPF_2089;RH17918;SGC35271 HNRPF;MGC110997;OK/SW-cl.23;mcs94-1 HnRNP F protein;OTTHUMP00000019482;OTTHUMP00000043413;OTTHUMP00000043414;heterogeneous nuclear ribonucleoprotein F;nucleolin-like protein mcs94-1 APPROVED protein-coding ENSG00000169813 5039 03023 601037 REVIEWED 7246673 HNRNPMP1 heterogeneous nuclear ribonucleoprotein M pseudogene 1 645204 ABBA01039208;AC025043;AMYH01006611;NG_022108 pseudo 48745 INFERRED 7246855 HNRNPMP2 heterogeneous nuclear ribonucleoprotein M pseudogene 2 390948 ABBA01040988;AC008622;AMYH01009872;NG_021765 pseudo 48746 INFERRED 1347066 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H) This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012] 5 5 q35.3 178973786 178983276 - 179041179 179050722 - 1580863;6480464 7499401;9111328;12226669;18029348;19425502;19244236;17081983;16344560;16236267;16169070;15635413;15592455;15489334;15456888;15324660;15302935;15144186;14980514;14702039;14559993;12477932;12388589;11991638;11790298;11003644;10456323;9973292;9858532;7512260;1602151;1286667;17267499;21145461;22912744;20028692;16946708;17220478;17289661;17643375;18377426;19299493;19926721;20100605;20145135;20308327;21194727;16055720;16159877;17707232;19394292;19454010;21068389;22863883;22939629;23084401;23184937;15161933;20360068;21705779;15047060;16196087;17765891;19928837;21823664;21915099;21252943;18781797;20639865;21139048;21549307;21890473;21906983;21942715;21963094;21987572;22108332;22178446;19322201;21110914;21900255;22207023;17620599;22446626;23261416;23398456;23455922;23463506;16000324;19738201;21822216;22053931;22304920;22365833;22623428;22751105;22792276;22810585;22963397;23000965;23246001;15161980;18271526;19380743;21853274;22174317;22505724;22797925 3187 D6R9D3;D6R9T0;D6RAM1;D6RBM0;D6RDL0;D6RDU3;D6RF17;D6RFM3;D6RIH9;D6RIT2;D6RIU0;D6RJ04;E5RGH4;E5RGV0;E5RJ94;E7EN40;E7EQJ0;E9PCY7;F5GZT4;G8JLB6;H0YAQ2;H0YB39;H0YBD7;H0YBG7;H0YBK1;H0YBW2;P31943 ABBA01010026;AC136604;AK092273;AK124530;AK298193;AK307693;AK311021;AMYH01015955;AMYH01015956;BC001348;BQ028714;BX647205;CH471165;CR456778;CR749414;DA204744;DA603645;L22009;NM_001257293;NM_005520 AAA91346;AAH01348;BAG54048;BAG60463;CAG33059;CAH18256;EAW53807;EAW53808;EAW53809;NP_001244222;NP_005511;P31943 Hs.604001 1650586;1660625;1676656;1694678;1797694;2140472 D5S1862;G16980;G43520;HNRPH1_2339;RH69028;RH78175 DKFZp686A15170;HNRPH;HNRPH1;hnRNPH OTTHUMP00000161513;OTTHUMP00000223418;OTTHUMP00000223419;OTTHUMP00000223421;OTTHUMP00000223422;heterogeneous nuclear ribonucleoprotein H;hnRNP H APPROVED protein-coding ENSG00000169045 5041 03021 601035 REVIEWED 7204785 HNRNPRP1 heterogeneous nuclear ribonucleoprotein R pseudogene 1 10 p12.31 21912856 21915305 - 100125387 ABBA01034494;AL161799;AMYH01002174;NG_006899;NG_027818 1682587 RH70827 pseudo 44907 INFERRED 7204935 HNRNPRP2 heterogeneous nuclear ribonucleoprotein R pseudogene 2 11 29690433 29691175 - 100421354 ABBA01060943;AL359980;AMYH01003466;NG_024324 pseudo 44908 INFERRED 7204937 HNRNPRP3 heterogeneous nuclear ribonucleoprotein R pseudogene 3 4 37869915 37870692 + 100421323 ABBA01074313;AC021106;AMYH01014113;NG_025201 pseudo 44909 INFERRED 737263 HNRNPL heterogeneous nuclear ribonucleoprotein L Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.2 44018868 44034819 - 39327028 39342979 - 1580863;6480464 2687284;17353931;12226669;19464723;19332550;19298794;19124611;19061868;19017650;18202450;18073345;16024770;15790807;14702039;14528909;12869704;12576095;12477932;12447348;12130696;11809897;11280764;10772858;10737800;10441480;9880507;9563502;8871564;2576798;1286667;11118435;16169070;15889141;16009940;19322201;21628590;10809782;16236267;17289661;17643375;18669861;19912651;20122404;19946215;17803295;21343907;16055720;16159877;21398516;20237420;22939629;16196087;15798186;15848144;17623298;18781797;19471022;19596686;19850743;20639865;21081666;21549307;21890473;21906983;21942715;22178446;21900255;21252943;22446626;22523384;15576338;21145461;22245417;22505724;22944692 3191 B4DVF8;M0QXS5;M0QYL7;M0R1W6;P14866;Q6NTA2 AB044547;ABBA01040705;ABBA01040706;AC008982;AK092828;AK094966;AK097975;AK292115;AK298384;AK301062;AK313652;AMYH01009788;AMYH01009789;AV743120;AY927544;BC069184;BI256815;BI461733;BM997815;BQ334900;CH471126;NM_001005335;NM_001533;X16135 AAH69184;BAB18649;BAF84804;BAG36406;BAG60620;BAG62670;CAA34261;EAW56826;EAW56827;EAW56828;NP_001005335;NP_001524;P14866 Hs.644906 1773892;2141389;2190961;5109653;5113040 D6S1116E;MARC_12099-12100:1004643257:1;RH66616;RH70823;WI-13808 FLJ35509;HNRPL;P/OKcl.14;hnRNP-L heterogeneous nuclear ribonucleoprotein L;hnRNP L APPROVED protein-coding ENSG00000104824 5045 04360 603083 REVIEWED 1353271 HNRNPLL heterogeneous nuclear ribonucleoprotein L-like HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008] 2 2 2 p22.1 38631387 38671235 - 38644678 38683528 - 38790328 38830178 - 1580863;6480464 18719244;21252943;14667819;18669861;16713569;16344560;15635413;15489334;15256261;12477932;8889548;20505149;22939629;22990118;21081666;21942715;22079093;21139048;21890473;23000965;23275563 92906 A8K894;B7WPG3;C9IYN3;C9JJZ7;D6W592;H7BXH8;H7C0J6;H7C464;Q5JB52;Q8WVV9 ABBA01075005;AC011247;AF461716;AF461722;AK000155;AK291462;AK292259;AL512692;AMYH01010267;AY236962;AY236963;BC008217;BC017480;BM972334;CH471053;DA760455;NM_001142650;NM_138394 AAH08217;AAH17480;AAN76189;AAN76190;AAQ20083;AAQ20084;AAY24302;BAF84151;BAF84948;CAH56358;EAX00368;EAX00369;EAX00370;EAX00371;EAX00372;NP_001136122;NP_612403;Q8WVV9 Hs.445497 2128943 SHGC-17237 SRRF;hnRNPLL OTTHUMP00000128259;OTTHUMP00000128260;OTTHUMP00000203881;heterogeneous nuclear ribonucleoprotein L-like;stromal RNA regulating factor;stromal RNA-regulating factor APPROVED protein-coding ENSG00000143889 25127 13667 611208 VALIDATED 1320680 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008] 10 10 q22 69761885 69772954 + 70091768 70102953 + 1580863;6480464 21145461;11790298;14702039;12477932;11152131;11004512;9110174;8619474;8125298;1286667;10858537;17353931;8999868;17081983;16344560;16169070;15635413;15592455;15489334;15975576;16385451;17643375;18377426;16159877;17549794;20943442;23383273;21320693;22939629;18029348;19928837;20000738;21139048;21890473;21900206;21906983;21987572;22178446;21628590;21110914;21900255;22446626;22174317;22190034;22505724 3189 B4DHY1;Q53F48;Q9UFU4 ABBA01019562;AC016395;AF052131;AF132360;AF132361;AF132362;AF132363;AF132364;AK091411;AK223441;AK291547;AK295316;AL117395;AMYH01002800;AW189387;BC004511;BC039824;CH471083;DA486117;NM_012207;NM_021644 AAF68843;AAF68844;AAF68845;AAF68846;AAF68847;AAF68848;AAF68849;AAF68850;AAF68851;AAF68852;AAH04511;AAH39824;BAD97161;BAF84236;BAG52353;BAG58293;CAB55897;EAW54280;EAW54281;EAW54282;EAW54283;EAW54284;EAW54285;EAW54286;EAW54287;EAW54288;EAW54289;NP_036339;NP_067676;P31942 Hs.643472 1651633;1655228;1655230;1671917;1680300;1781240;1849852 A005Q06;G20409;RH17872;RH80429;WI-11265;WI-17049;stSG69069 2H9;FLJ34092;HNRPH3 OTTHUMP00000019701;OTTHUMP00000035218;heterogeneous nuclear ribonucleoprotein 2H9;heterogeneous nuclear ribonucleoprotein H3;hnRNP 2H9;hnRNP H3 APPROVED protein-coding ENSG00000096746 5043 03818 602324 REVIEWED 736504 HNRNPR heterogeneous nuclear ribonucleoprotein R This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs and also contains a nuclear localization motif. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.12 23508863 23543440 - 23636276 23670853 - 1580863;6480464 9421497;17353931;12226669;17672918;16710414;16344560;15858414;15635413;15188402;12477932;12388589;12183049;11991638;11773003;11574476;16169070;17611602;21145461;17289661;17474147;17643375;19581295;19808671;19902070;16522924;21182205;22863883;22939629;16196087;17765891;18029348;19928837;20000738;17620599;22354994;22446626;17332742;15848144;18457437;20360068;21081666;21900206;21942715;21987572;19471022;21139048;21549307;21693764;21890473;21906983;21628590;22174317 10236 E7ETM7;O43390;Q0VGD6;Q6MZS5 ABBA01059868;AF000364;AK098580;AK297382;AK297405;AK300029;AK311519;AK313142;AL109936;AMYH01000359;BC001449;BC110389;BX538163;BX640912;BX647784;CH471134;DA773186;DQ351905;NM_001102397;NM_001102398;NM_001102399;NM_005826 AAC39540;AAH01449;AAI10390;ABC73063;ABM83094;ABM86288;BAG35961;BAG59823;BAG59843;BAG61840;CAD98043;CAE45953;EAW95040;EAW95041;EAW95042;NP_001095867;NP_001095868;NP_001095869;NP_005817;O43390 Hs.373763 1687105;1688166;1760205;1772441;1795984;1853759;2123744;5109709 A007E15;D10S1272E;HNRPR_987;RH80580;RH98399;SHGC-132486;SHGC-32988;WI-17999 FLJ25714;HNRPR;hnRNP R;hnRNP-R OTTHUMP00000003258;OTTHUMP00000003259;OTTHUMP00000003260;heterogeneous nuclear ribonucleoprotein R APPROVED protein-coding ENSG00000125944 5047 06228 607201 REVIEWED 733485 HNRNPK heterogeneous nuclear ribonucleoprotein K This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008] 9 9 q21.32-q21.33 85772912 85785339 - 86582998 86595569 - 6480464;6907045 8107114;12029088;16713569;18377426;12226669;16130169;18029348;1729596;19548310;19401687;19330019;19258514;19249676;19170760;19165527;19101556;19015635;18854308;18854243;18559600;18472002;18441016;17672864;17667925;17561226;17483488;17191129;17081983;16964243;16564677;16496041;16492668;16404425;16360036;16344560;16293596;16189514;16004877;15860232;15782174;15671036;15635413;15514164;15489334;15486205;15302935;15170860;15039586;14702039;14562022;14559993;12951515;12529443;12477932;12411317;12388589;12370808;12183465;12093748;12052863;11991638;11867641;11840567;11790298;11748221;11741984;11557983;11259409;11231586;10809782;10772858;10749975;10369774;10329716;9651361;9553145;9185665;8889548;8833161;8810341;8628302;8398153;8152927;8051112;7862126;7516469;18655026;12183049;10506147;21145461;21319273;22457825;22825850;19653139;17643375;19520842;19609950;19747914;19808671;19880579;20371611;20936779;16055720;20499280;20623123;20408130;19394292;20224598;20548952;20888333;21184736;17403666;17620012;21233203;22960638;22760167;17573780;21466159;16196087;21321982;21182205;22863883;23092970;17314511;19135240;21151833;19174163;21821029;16236267;15161933;15303970;15848144;17623298;18457437;19596686;20360068;20972266;21139048;21549307;21890473;21906983;21942715;21963094;21987572;22178446;17332742;22558309;22321252;22751105;23000965;23084401;23184937;23246001;23343766;23455922;23463506;23503679;12574161;16230076;19059912;19738201;19805454;20085233;20467438;21988832;22365833;22623428;16009940;21900255;22542455;21252943;17361185;21044950;22582387;17620599;19531213;22318606;22379092;22446626;22879910;22939629;23564449;23798571;23824909;15161980;19380743;20697350;21853274;22053931;22335908;22505724;22797925;9399639 3190 P61978;Q5T6W1;Q5T6W2;Q5T6W5;Q6IBN1 AB209562;AB451263;AB451390;ABBA01034012;AK096385;AK123117;AK291336;AK294067;AK300744;AK307962;AL354733;AMYH01021463;AY911506;BC000355;BC013220;BC014980;BC025321;BU736090;CH471089;CR456771;DA394419;DC407458;NG_029577;NM_002140;NM_031262;NM_031263;S74678;X72727 AAB20770;AAH00355;AAH14980;AAW84289;ABM81653;ABM84828;BAD92799;BAF84025;BAG53278;BAG53872;BAG57412;BAG62413;BAG70077;BAG70204;CAA51267;CAG33052;EAW62675;EAW62676;EAW62677;EAW62678;EAW62679;EAW62680;EAW62681;NP_002131;NP_112552;NP_112553;P61978 Hs.522257 1648431;1662558;1795982;5014454;5491967 D15S1328;HNRPK-1;HNRPK_448;IB2336;WI-9204 CSBP;FLJ41122;HNRPK;TUNP OTTHUMP00000021552;OTTHUMP00000021553;OTTHUMP00000021554;OTTHUMP00000021555;OTTHUMP00000021557;OTTHUMP00000021558;dC-stretch binding protein;heterogeneous nuclear ribonucleoprotein K;hnRNP K;transformation up-regulated nuclear protein;transformation upregulated nuclear protein APPROVED protein-coding ENSG00000165119 5044 02834 600712 REVIEWED 1348517 HOAC hypoacusis 2 (autosomal recessive) 2791656 3193 5049 2303452 HNRNPU-AS1 HNRNPU antisense RNA 1 1 1 1 q44 218293891 218300194 - 245003940 245010243 - 245003940 245010243 - 16344560;14702039;12477932;22678713 284702 Q7Z4P1 AA773071;ABBA01047189;AF448858;AK054764;AK095297;AL138273;AMYH01001897;BC035431;BX323046;DA733532;NR_026778 AAP97733 Hs.411490;Hs.743421 1649893;1666558;1675561 RH48131;RH91550;SHGC-76622 C1orf199;FLJ30202;NCRNA00201 APPROVED miscrna ENSG00000188206 27651 PREDICTED 1352653 HNRNPUP1 heterogeneous nuclear ribonucleoprotein U pseudogene 1 14 14 14 q21.2 23629745 23630395 + 42839112 42839962 + 43769463 43770113 + 319134 ABBA01018025;AL583809;AMYH01005696;NG_002512 2191381 MARC_20677-20678:1024509130:1 APPROVED pseudo 19931 INFERRED 731482 HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 q44 243080225 243094450 - 245013602 245027827 - 1580863;6480464;6907045 1628625;17220478;12226669;7509195;19351595;19165527;18710935;18618731;17081983;16924231;16916646;16710414;15782174;15711563;15592455;15489334;15364944;15121898;15096513;14702039;14559993;12855701;12840015;12686378;12477932;12388589;11991638;11909954;11850407;11850402;11813259;10862698;10671544;10490622;10348913;9563502;9405365;9353307;9105675;9079809;8943344;8670859;8068679;7993898;7831290;7753047;15778465;20382278;17267499;21145461;21319273;20554522;16568080;17289661;17643375;19029303;19617346;19808671;20150277;19578763;22902625;22939629;16055720;18212063;22863883;17573780;17620012;20431927;21242313;16196087;19174163;17765891;20080577;21502505;21907836;22145905;21235343;21252943;22325991;12777385;12938929;15303970;16051665;18457437;18781797;19287380;19596686;20360068;20639865;20797629;21139048;21549307;21825151;21890473;21906983;21942715;21963094;21987572;17332742;22162999;16009940;21575865;21628590;22810585;17620599;15161980;19380743;21853274;22053931;22174317;22337587;22505724;22944692;22952844;22678713 3192 Q00839;Q5RI18;Q96BA7 ABBA01047188;ABBA01047189;AF068846;AF461014;AK095525;AK126868;AK130669;AK297119;AK307661;AMYH01001897;BC003367;BC003621;BC007950;BC015782;BC024767;BC034925;BX323046;CH236957;CH471148;NM_004501;NM_031844;X65488 AAC19382;AAH03367;AAH03621;AAH07950;AAH15782;AAH24767;AAH34925;AAP97707;ABM84242;ABM87630;ACE86474;ACE87155;BAG54384;BAG59625;CAA46472;EAW77126;EAW77127;NP_004492;NP_114032;Q00839 Hs.106212 1649369;1657565;1669126;1676692;1677584;1770733;1788606;1795986;2127111;2133869;2143343;2150113;2154178;2171279;2190989;2191381;2191561;5021702;5095054 A007A33;C86794;D14S1285;D1S3027;GDB:6028664;HNRPU;HNRPU_1518;MARC_12257-12258:1008001094:5;MARC_20677-20678:1024509130:1;MARC_26419-26420:1036768776:5;RH18125;RH92446;RH93803;SHGC-76609;SHGC-76621;SHGC-76627;WI-7584;WI-8450;ksks277 HNRPU;SAF-A;U21.1;hnRNP U OTTHUMP00000038192;OTTHUMP00000038193;heterogeneous nuclear ribonucleoprotein U;hnRNP U protein;p120 nuclear protein;pp120;scaffold attachment factor A;transporter protein; system n1 na+ and h+-coupled glutamine transporter APPROVED protein-coding ENSG00000153187 5048 04185 602869 REVIEWED 1349435 HOMER2P1 homer homolog 2 (Drosophila) pseudogene 1 14 106914865 106917231 - 317768 AB019438;ABBA01074109;AMYH01006101;NG_001019 pseudo 20336 VALIDATED 1352201 HOMER2P2 homer homolog 2 (Drosophila) pseudogene 2 14 106742587 106744487 - 317769 AB019439;ABBA01074094;AMYH01006101;NG_001019 pseudo 20334 VALIDATED 731710 HNRNPM heterogeneous nuclear ribonucleoprotein M This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 19 19 p13.2 8415803 8459998 + 8509803 8554002 + 1580863;6480464;6907045 17267499;20797634;21145461;21319273;22912744;17573780;20431927;21398516;9731529;11984006;12226669;8088785;18790094;17353931;17081983;16964243;16189514;15635413;15561718;15489334;15456888;15345747;15324660;15175327;15146197;14667819;14597422;12477932;11991638;11823437;11790298;11406629;8692693;8441656;7558047;17803295;17643375;18726360;19874820;20467437;18029348;20936779;16159877;19454010;21182205;22863883;17620599;20508642;22939629;16196087;22446626;21252943;12777385;18457437;19471022;19596686;20639865;21139048;21549307;21693764;21890473;21906983;21942715;21963094;21987572;22178446;17361185;20682791;21575865;21628590;16230076;19738201;19805454;21988832;22365833;22623428;22751105;22963397;23000965;23084401;23246001;23277564;23314748;23398456;21853274;22174317;22268729;22505724;22797925 4670 M0QY96;M0QYL3;M0QYQ7;M0QZM1;M0R019;M0R0N3;M0R0Y6;M0R2I7;M0R2T0;P52272 AB209733;ABBA01010841;ABBA01010842;ABBA01010843;AC136469;AF061832;AK024911;AK309659;AL713781;AMYH01009442;AMYH01009443;BC000138;BC008895;BC018916;BC019580;BC038753;BC045573;BC058893;BC064588;CH471139;CN350481;CN350489;CN350526;DB478004;DB481659;L03532;L32611;NG_029850;NM_005968;NM_031203;X72018 AAA36192;AAC16002;AAH00138;AAH08895;AAH19580;AAH64588;AAL31359;BAD92970;CAA50897;CAD28541;EAW68919;EAW68920;EAW68921;EAW68922;EAW68923;NP_005959;NP_112480;P52272 Hs.465808;Hs.666214 1745997;2143557;2163260;5022322;5493914 D11S2560;Hnrpm;RH125827;RH68551;WI-7190 CEAR;DKFZp547H118;HNRNPM4;HNRPM;HNRPM4;HTGR1;NAGR1;hnRNP M CEA receptor;M4 protein;N-acetylglucosamine receptor 1;heterogeneous nuclear ribonucleoprotein M;heterogenous nuclear ribonucleoprotein M;heterogenous nuclear ribonucleoprotein M4;hnRNA-binding protein M4 APPROVED protein-coding ENSG00000099783 5046 01188 160994 REVIEWED 1321399 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010] 10 10 10 q24.2 93081405 93109870 + 99334108 99362549 + 99344102 99372559 + 737633;6480464;7240710 12477932 15489334;15164054;14702039;17207965;20877624;20797690;21896830;21998747;22232173;22286219;22391140;22781098 112817 H7BY76;Q86XE5 ABBA01021799;ABBA01021800;AK094791;AK289440;AL355315;AMYH01002978;BC011916;BC045550;BC057821;CH471066;NG_027922;NM_001134670;NM_138413 AAH11916;AAH45550;AAH57821;ACE86528;ACE86538;ACE87207;ACE87218;ADQ32501;BAF82129;EAW49912;EAW49913;EAW49914;NP_001128142;NP_612422;Q86XE5 Hs.180346 1679025;1682443;1785144;2137905;2153196;2159131;5494144 RH140725;RH41894;RH48677;RH92617;RH94255;SHGC-155735;STS-R89840 C10orf65;DHDPS2;DHDPSL;FLJ37472;FLJ56960;HP3;NPL2 DHDPS-like protein;N-acetylneuraminate pyruvate lyase 2 (putative);OTTHUMP00000020215;OTTHUMP00000020217;dihydrodipicolinate synthase-like;dihydrodipicolinate synthase-like, mitochondrial;dihydrodipicolinate synthetase homolog 2;probable 2-keto-4-hydroxyglutarate aldolase;probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial;probable KHG-aldolase;protein 569272 APPROVED protein-coding ENSG00000241935 25155 12584 613597;613616 REVIEWED 1606938 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U-like 2 11 11 11 q12.3 59810573 59823425 - 62238796 62251397 - 62480097 62494857 - 6480464 21145461;17081983;16964243;14702039;12477932;8068679;17643375;22863883;22939629;22990118;20360068;21987572;22178446;21139048;21890473;21906983;21252943;22365830;21628590 221092 Q1KMD3 ABBA01003240;ABBA01003241;AI992017;AMYH01003690;AP001160;AP001458;BC029105;BC032369;CH471076;DQ470474;NM_001079559 AAI67844;ABF00125;EAW74084;NP_001073027;Q1KMD3 Hs.657058 2125362 D11S2291E DKFZp762N1910;HNRPUL2;SAF-A2 OTTHUMP00000236813;SAF-A2;heterogeneous nuclear ribonucleoprotein U-like protein 2;scaffold-attachment factor A2 protein-coding ENSG00000214753 25451 VALIDATED 1354218 HOMER1 homer homolog 1 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008] 5 5 q14.2 78705542 78845456 - 78669786 78809700 - 633024;633023;1580863;6480464;6907045 9808459;9808458 19376111;19165527;19086053;18193045;16314758;16189514;15745950;15691715;15673434;15489334;15033484;14660561;14528310;14505576;12887973;12815733;12810060;12477932;12223488;12107410;11418862;10851183;10833436;10464340;10433269;9069287;8889549;8125298;11679592;20598711;20673876;16979624;19648775;20333726;20379614;21172614;20926133;22558107;20360068;21885651;21139048;19447967;22749857 9456 Q5U5K4;Q86YM6;Q86YM7 AA029302;ABBA01062013;ABBA01062014;ABBA01062015;ABBA01062016;ABBA01062017;AC020898;AC093270;AF093262;AK223471;AK312481;AMYH01015437;AY189939;AY189940;AY189941;BC015502;BC047438;BT009846;BU933636;CA396459;CB052446;CH471084;CS301484;NM_001277077;NM_001277078;NM_004272;Y17829 AAC71026;AAH15502;AAH47438;AAO38999;AAO39000;AAO39001;AAP88848;ABM82204;ABM85392;BAD97191;BAG35385;CAA76877;CAK31441;EAW95835;EAW95836;NP_001264006;NP_001264007;NP_004263;Q86YM7 Hs.591761 1654050;1688050;1726599;1776583;1847242;2108149;2146173;5092956 A009D02;D5S2634;G32434;G62532;HOMER1_8943;RH80198;SHGC-57966;STS-H49335 HOMER;HOMER1A;HOMER1B;HOMER1C;SYN47;Ves-1 OTTHUMP00000165782;OTTHUMP00000165783;OTTHUMP00000222577;homer protein homolog 1;homer, neuronal immediate early gene, 1;homer-1 APPROVED protein-coding 17512 09211 604798 VALIDATED 1316659 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus E1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by E1B-55kDa in adenovirus-infected cells. Two transcript variants encoding different isoforms have been found for this gene. Additional variants have also been found, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.2 46460264 46505438 + 41768391 41813811 + 6480464 9733834;15907477;17353931;12226669;19166692;19056482;18599554;18480432;17121608;17081983;16690874;16169070;15489334;15302935;15242333;15231748;15144186;14702039;12489984;12477932;11513728;11073998;10668806;8889548;8125298;21145461;19913121;20628086;17643375;19710015;20211142;16055720;17332742;21083500;22863883;22939629;22990118;19542561;22379092;22586326;21252943;22365830;19322201;21628590;20360068;21139048;21890473;21906983;21956701;21987572;22505724 11100 B7Z4B8;M0QYG9;M0QYI8;M0QYM5;M0QYZ0;M0QZV6;M0R0K8;M0R203;M0R247;M0R3F1;Q9UG75 ABBA01040803;AC011462;AC011510;AJ007509;AK001229;AK021455;AK022863;AK023006;AK127057;AK225850;AK290729;AK291315;AK291762;AK297127;AK308078;AK308156;AL050146;AMYH01009819;BC000860;BC002564;BC004242;BC009988;BC014232;BC027713;BM976139;CH471126;CS674266;CS805739;DC318049;DC366321;DC403921;HC919736;HC919947;NM_007040;NM_144732 AAH02564;AAH04242;AAH09988;AAH14232;AAH27713;ACE86458;ACE86493;ACE87139;ACE87174;BAB13831;BAC86806;BAF83418;BAF84004;BAF84451;BAG50872;BAG51129;BAH12504;CAA07548;CAB43291;CAP12293;CAP40174;CBN73465;CBN73470;EAW57024;EAW57025;EAW57026;EAW57027;EAW57028;EAW57029;NP_008971;NP_653333;Q9BUJ2 Hs.155218;Hs.718642 1644538;1662676;1857077;2110455;2116911;2138338;2166941;5015619;5015961;5024327;5024756;5037552 D11S3114;D15S1477;D8S2279;HNRPUL1__6581;RH16532;RH36144;RH36197;RH45628;RH80030;SHGC-33210;STS-W84423;WI-20004 E1B-AP5;E1BAP5;FLJ12944;HNRPUL1 E1B 55kDa associated protein 5;E1B-55 kDa-associated protein 5;E1B-55kDa-associated protein 5;adenovirus early region 1B-associated protein 5;heterogeneous nuclear ribonucleoprotein U-like protein 1 APPROVED protein-coding ENSG00000105323 17011 10428 605800 REVIEWED 1354175 HOMER2 homer homolog 2 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011] 15 15 q24.3 81314789 81412477 - 83517729 83621476 - 633024;633023;6480464;6907045 9808459;9808458 18387811;19086053;18218901;16314758;15944415;15489334;12815733;12676529;12477932;12378015;10653696;12223488;9069287;14528310;8889548;19914345;20333726;20531441;21103663;20921022;21636702;21885651;21832049;18029348 9455 E9PAZ1;F8W826;H0YNR9;Q9NSB8 ABBA01029430;ABBA01029431;ABBA01029432;AC022558;AC044907;AF081530;AF093263;AF093264;AK292772;AMYH01006856;AMYH01006857;AY062316;BC012109;BI666912;CB321822;CH471188;NG_029435;NM_004839;NM_199330;Y19025;Y19026;Y19027;Y19028 AAC71027;AAC71028;AAD13748;AAH12109;AAL65744;ABM83250;ABM86452;BAF85461;CAB75537;CAB75538;CAB75539;CAB75540;EAW62435;EAW62436;NP_004830;NP_955362;Q9NSB8 Hs.578443 1659833;1665558;1689596;1715379;2108151 A002T02;G17738;HOMER2_8942;RH120522;RH98736 ACPD;CPD;HOMER-2;HOMER2A;HOMER2B;Vesl-2 cupidin;homer homolog 3;homer protein homolog 2;homer, neuronal immediate early gene, 2 APPROVED protein-coding ENSG00000103942 17513 07269 604799 REVIEWED 731655 HOMER3 homer homolog 3 (Drosophila) This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 19 19 p13.11 18901012 18912983 - 19040010 19052041 - 633024;6480464;6907045 9808459 10653696;9808458;18387811;18218901;16979624;16189514;15489334;15146197;15057824;14645007;12815733;12477932;12223488;9069287;14505576;16098226;19345194;20693425;21832049;20360068;22486777 9454 B2RA10;M0QYF9;M0QZN1;M0R2T8;M0R2U7;Q9NSC5 ABBA01051298;ABBA01051299;ABBA01051300;AC002985;AF093265;AK124450;AK313995;AL529052;AMYH01009605;AW606967;BC012113;BM915739;BT019464;CH471106;CN284196;NM_001145721;NM_001145722;NM_001145724;NM_004838;NR_027297;Y17573;Y18894;Y18895;Y18896 AAB81545;AAC71029;AAH12113;AAV38271;ABM83483;ABM86697;BAG36707;BAG54040;CAB75536;CAB75543;CAB75544;CAB75545;EAW84762;EAW84763;EAW84764;EAW84765;NP_001139193;NP_001139194;NP_001139196;NP_004829;Q9NSC5 Hs.720208 5016352 L30021 HOMER-3;VESL3 homer protein homolog 3 APPROVED protein-coding ENSG00000051128 17514 07270 604800 REVIEWED 735425 HOMEZ homeobox and leucine zipper encoding 14 14 14 q11.2 3605546 3618011 - 22812684 22825073 - 23742844 23755309 - 6480464 15489334;15302935;14702039;12925734;12477932;11948623;10718198;20422016;18029348;19471022;21890473 57594 F8WCA3;Q8IX15 AB037864;ABBA01061318;AF463523;AK296927;AL049829;AMYH01005603;BC045733;BC130392;CH471078;DC398645;NM_020834 AAI30393;AAN76991;BAA92681;BAG59479;EAW66175;EAW66176;EAW66177;NP_065885;Q8IX15 Hs.632332 5037552 D8S2279 KIAA1443 homeobox and leucine zipper protein Homez;homeodomain leucine zipper-containing factor;homeodomain-leucine zipper protein homez protein-coding ENSG00000215271 20164 12167 608119 VALIDATED 1346134 HORMAD1 HORMA domain containing 1 This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q21.3 123786303 123808779 - 148937166 148959976 - 150670535 150693364 - 737633;6480464 12477932 11256614;16381901;15999985;15567723;15489336;14702039;11230166;11076863;16331256;18089785;22407170;18029348;22776561 84072 J3QSX5;Q9H0K8 AA991355;ABBA01049352;ABBA01049353;AK097390;AK098633;AL136755;AL356292;AMYH01001381;AY626344;BC033014;BC047406;BU570274;CH471121;CR533505;HC044603;NM_001199829;NM_032132 AAH33014;AAH47406;AAT45740;BAG53463;CAB66689;CAG38536;CAL37439;CAL37857;CBH30631;EAW53520;EAW53521;EAW53522;EAW53523;EAW53524;EAW53525;NP_001186758;NP_115508;Q86X24 Hs.298312 CT46;DKFZp434A1315;NOHMA;RP11-363I22.1 HORMA domain containing protein;HORMA domain-containing protein 1;OTTHUMP00000032933;OTTHUMP00000032934;OTTHUMP00000032935;cancer/testis antigen 46;newborn ovary HORMA protein APPROVED protein-coding ENSG00000143452 25245 11396 609824 REVIEWED 5133393 HOTAIRM1 HOXA transcript antisense RNA, myeloid-specific 1 This non-coding locus is located in the HOX gene cluster. Transcription of this locus is induced by retinoic acid, and transcripts likely function in regulation of myelopoiesis through transcriptional activation of several genes in the HOXA cluster, in addition to several beta-2 integrins. [provided by RefSeq, Jan 2013] 7 7 p15.2 27124921 27128816 + 27135713 27139877 + 19144990 100506311 AACC02000007;ABBA01056757;AC004079;AI123748;AMYH01017131;BC031342;CH236948;GQ479958;NG_033087;NR_038366;NR_038367 Hs.445239 1647923;1685123;1777557;1800158;1802726;1802864;1803266;1803648;1804446;2058254;2058256;2058258;2058260;2058262;2058264;2058266;2058268;2058270;2058272;2058274;2058276;2058278;2058280;2058284;2058286;2058288;2058290;2058292;2058294;2058296;2058298;2058300;2058302;2058304;2058306;2058308;2058310;2131749 ECD00936;ECD02250;ECD02320;ECD02529;ECD02730;ECD03147;REN100302;REN100303;REN100304;REN100305;REN100306;REN100307;REN100308;REN100309;REN100310;REN100311;REN100312;REN100313;REN100314;REN100315;REN100317;REN100318;REN100319;REN100320;REN100321;REN100322;REN100323;REN100324;REN100325;REN100326;REN100327;REN100328;REN100329;REN100330;RH36558;RH93688;SHGC-35668;STS-U10421 HOXA-AS1;HOXA1-AS1;NCRNA00179 APPROVED miscrna ENSG00000233429 37117 REVIEWED 2293809 HOTAIR HOX transcript antisense RNA This gene is located within the Homeobox C (HOXC) gene cluster on chromosome 12 and is co-expressed with HOXC genes. It represses transcription of HOXD genes on chromosome 2 in trans. This gene is shuttled from chromosome 12 to chromosome 2 by a component of Polycomb Repressive Complex 2 (PRC2). This gene interacts with both PRC2 and lysine specific demethylase 1 (LSD1) complexes through its 5' and 3' domains, respectively, and serves as a scaffold to assemble PRC2 and LSD1 complexes to the HOXD gene cluster. It couples H3K27 methylation and H3K4 demethylation for epigenetic silencing of HOXD genes in multiple tissues. This gene is highly expressed in multiple tumors. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Feb 2013] 12 12 12 q13.13 54005698 54012116 - 52642496 52648727 - 54356092 54368740 - 6480464 17604720;17604716;16344560;20393566;20616235;21123648;22659877;21138898;21278485;21327457;21345374;21393997;21496275;21507358;21637793;21732412;21963238;22258453;22289527;22375145;22386265;19571010;20864820;20930520;22614017;21862635;23124417;23141928 100124700 AA399272;ABBA01008361;AC012531;AK123741;AMYH01004483;BF109906;DA567507;DA905601;DA907429;DQ926657;NR_003716;NR_047517;NR_047518 Hs.197076 FLJ41747;HOXAS;HOXC-AS4;HOXC11-AS1;NCRNA00072 APPROVED miscrna ENSG00000228630 33510 611400 REVIEWED 1348799 HORMAD2 HORMA domain containing 2 22 22 22 q12.2 14276181 14372762 + 28806453 28903062 + 30476453 30573062 + 737633 12477932 15461802;19915574;20473688;21399633;22893617;23128233 150280 F8WES9;Q8N7B1 ABBA01055291;ABBA01055292;AC002378;AC003071;AK098703;AMYH01012705;BC030013;CH471095;CR456341;CS568998;NM_152510 AAH30013;BAC05388;CAG30227;CAK54483;CAK54782;CAN59692;EAW59859;EAW59860;NP_689723;Q8N7B1 Hs.120391 1683671;2120845;2172791 D22S268;D22S596;RH94370 MGC26710 HORMA domain-containing protein 2;OTTHUMP00000198644;OTTHUMP00000198645 protein-coding ENSG00000176635 28383 13668 PROVISIONAL 6480823 HOXA-AS4 HOXA cluster antisense RNA 4 7 27208518 27211534 + 100874323 AACC02000007;ABBA01056760;AC004080;AMYH01017133;BM549446;CH236948;NR_046609 Hs.716765 2058926;2058944 REN100638;REN100647 APPROVED miscrna ENSG00000253187 40281 PREDICTED 1320916 HOOK2 hook homolog 2 (Drosophila) Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004] 19 19 19 p13.2 12763527 12776144 - 12734817 12747434 - 12873817 12886434 - 6480464 21145461;16189514;9927460;17540036;15882442;15489334;12477932;11238449;18799622;19793914;17140400;22558309;21998199;19273536 29911 K7EJ48;K7EJ65;K7EJA7;K7EK29;K7EMG7;K7EMR5;K7ENU5;K7EQA2;Q96ED9 ABBA01029774;AC018761;AF044924;AK129729;AMYH01009495;AMYH01009496;BC012443;CH471106;DB474423;NM_001100176;NM_013312 AAC09299;AAH12443;ABM82265;ABM84286;ABM85447;ABM87678;BAC85229;EAW84305;EAW84306;NP_001093646;NP_037444;Q96ED9 Hs.30792 2159501;5015619;5015861;5117897;7185938 D10S16;D11S3114;GDB:631813;RH77914 FLJ26218;HK2 h-hook2;hHK2;protein Hook homolog 2 APPROVED protein-coding ENSG00000095066 19885 09698 607824 VALIDATED 1320626 HOOK1 hook homolog 1 (Drosophila) This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p32.1 58569347 58630858 + 60053121 60114638 + 60280533 60342050 + 6480464 15471887;18799622;16964243;16710414;16189514;15882442;15823567;15489334;14702039;12477932;12075009;11238449;9927460;17353931;20379614;23383273;17043677;21139048;21906983;23589492 51361 A8MU44;B1AK95;Q9UJC3 AA576610;ABBA01074647;AC113175;AF044923;AK027250;AK097735;AK098561;AK292314;AK301768;AL035416;AMYH01000659;BC011621;BC107857;CH471059;NM_015888 AAC09298;AAH11621;AAI07858;ABM82883;ABM86069;BAF85003;BAG63227;EAX06615;EAX06616;NP_056972;Q9UJC3 Hs.378836 1646647;1669597;1708336;1848530;2132008;2153094;2166328 AL009539;D1S3350;D1S3556;D1S3574;SHGC-2679;SHGC-74905;SHGC-81097 HK1;MGC10642 OTTHUMP00000010548;h-hook1;hHK1;protein Hook homolog 1 APPROVED protein-coding ENSG00000134709 19884 07428 607820 REVIEWED 5688579 HOXA-AS3 HOXA cluster antisense RNA 3 7 p15.2 27179983 27195547 + 14702039 100133311 AACC02000007;ABBA01056759;ABBA01056760;AC004080;AK091933;AK092154;AK096334;AMYH01017132;CH236948;NR_038831;NR_038832 Hs.610216 1666132;1799278;1799654;1800016;1800050;1800416;1800798;1800918;1800972;1802548;1802798;1803010;1803464;1803876;1803878;1804134;1806408;1807362;1810698;1812448;1813974;1814922;1815326;1816554;1817224;1817672;1820414;1822898;1827580;1828072;1829830;1829888;1837816;1843100;2058564;2058566;2058568;2058570;2058572;2058574;2058576;2058578;2058580;2058582;2058584;2058586;2058588;2058590;2058592;2058594;2058596;2058598;2058600;2058602;2058604;2058606;2058608;2058610;2058612;2058614;2058616;2058618;2058620;2058622;2058624;2058626;2058628;2058630;2058632;2058634;2058636;2058638;2058640;2058642;2058644;2058646;2058648;2058650;2058652;2058654;2058656;2058658;2058660;2058662;2058664;2058666;2058668;2058670;2058672;2058674;2058676;2058678;2058680;2058682;2058684;2058686;2058688;2058690;2058692;2058694;2058696;2058698;2058700;2058702;2058704;2058706;2058708;2058710;2058712;2058714;2058716;2058718;2058720;2058722;2058724;2058726;2058728;2058730;2058732;2058734;2058736;2058738;2058740;2058742;2058744;2058746;2058748;2058750;2058752;2058754;2058756;2058758;2058760;2058762;2058764;2058766;2058768;2058770;2058772;2058774;2058776;2058778;2058780;2058782;2058784;2058786;2058788;2058790;2058792;2058794;2058796;2058798;2058800;2058802;2058804;2058806;2135969;2135971;2138916;2192164;2192166;2192168;2192170;2192172;2192174;2192176;2192178;2192180;2192182;2192184;2192186;2192188;2192190;2192192;2192194;2192196;2192198;2192202;2192204;7185490 D7S150;ECD00487;ECD00681;ECD00863;ECD00880;ECD01068;ECD01261;ECD01324;ECD01351;ECD02161;ECD02287;ECD02396;ECD02629;ECD02851;ECD02852;ECD02986;ECD04160;ECD04652;ECD06344;ECD07231;ECD08014;ECD08492;ECD08699;ECD09319;ECD09662;ECD09888;ECD11282;ECD12537;ECD14908;ECD15159;ECD16048;ECD16077;ECD20078;ECD22758;G10625;HOX1;REN100457;REN100458;REN100459;REN100460;REN100461;REN100462;REN100463;REN100464;REN100465;REN100466;REN100467;REN100468;REN100469;REN100470;REN100471;REN100472;REN100473;REN100474;REN100475;REN100476;REN100477;REN100478;REN100479;REN100480;REN100481;REN100482;REN100483;REN100484;REN100485;REN100486;REN100487;REN100488;REN100489;REN100490;REN100491;REN100492;REN100493;REN100494;REN100495;REN100496;REN100497;REN100498;REN100499;REN100500;REN100501;REN100502;REN100503;REN100504;REN100505;REN100506;REN100507;REN100508;REN100509;REN100510;REN100511;REN100512;REN100513;REN100514;REN100515;REN100516;REN100517;REN100518;REN100519;REN100520;REN100521;REN100522;REN100523;REN100524;REN100525;REN100526;REN100527;REN100528;REN100529;REN100530;REN100531;REN100532;REN100533;REN100534;REN100535;REN100536;REN100537;REN100538;REN100539;REN100540;REN100541;REN100542;REN100543;REN100544;REN100545;REN100546;REN100547;REN100548;REN100549;REN100550;REN100551;REN100552;REN100553;REN100554;REN100555;REN100556;REN100557;REN100558;REN100559;REN100560;REN100561;REN100562;REN100563;REN100564;REN100565;REN100566;REN100567;REN100568;REN100569;REN100570;REN100571;REN100572;REN100573;REN100574;REN100575;REN100576;REN100577;REN100578;RH47950;RH48711;stSG609339;stSG609340;stSG609341;stSG609342;stSG609343;stSG609344;stSG609345;stSG609346;stSG609348;stSG609349;stSG609350;stSG609352;stSG609353;stSG609354;stSG609355;stSG609356;stSG609357;stSG609358;stSG609360;stSG609361 FLJ34614;FLJ34835;FLJ39015 APPROVED miscrna ENSG00000254369 43748 VALIDATED 2792833 HOTTIP HOXA distal transcript antisense RNA 7 7 p15.2 27228994 27231387 + 27240040 27246139 + 14702039;21483457;21423168 100316868 AACC02000007;ABBA01056762;AC004080;AK093987;AMYH01017133;CH236948;GU724873;NR_037843 Hs.199486 1803594;1806700;1806956;1808252;2059192;2059196;2059198;2059200;2059202;2059204;2059206;2059208;2059210;2059212;2059214;2192264 ECD02701;ECD04307;ECD04443;ECD05107;REN100771;REN100773;REN100774;REN100775;REN100776;REN100777;REN100778;REN100779;REN100780;REN100781;REN100782;stSG609402 FLJ36668;HOXA-AS6;HOXA13-AS1;NCRNA00213 APPROVED miscrna ENSG00000243766 37461 614060 VALIDATED 1346925 HOOK3 hook homolog 3 (Drosophila) Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004] 8 8 8 p11.21 41700858 41834504 + 42871190 42994084 + 42752033 42885682 + 1580863;6480464 11238449;21145461;17237231;17639057;16964243;15882442;15489334;15075236;14702039;12950921;12477932;8889548;9927460;18799622;20152126;18029348;22939629;21139048 84376 H0YDK4;H0YDM4;H0YE69;Q86VS8 ABBA01021176;ABBA01021177;ABBA01021178;ABBA01021179;ABBA01021180;AC009634;AC110275;AK055620;AK090540;AK309224;AMYH01018691;AMYH01018692;BC012030;BC013679;BC023658;BC048304;BC056146;BM716064;CH471080;NM_032410 AAH48304;AAH56146;BAC03473;EAW63196;EAW63197;EAW63198;EAW63199;EAW63200;NP_115786;Q86VS8 Hs.162852 1679858;1689891;1698136;2111129;2219808;5014051;5015404;5016478;5016596;5016700;5022200;5022463;5023327;5024413;5037552 D3S1673;D8S2278;D8S2279;D8S362E;GDB:434012;GDB:631802;HOOK3__6582;L17705;L17877;L18023;L18426;RH102601;RH28425;RH35928;RH79802 FLJ31058;HK3 OTTHUMP00000229200;h-hook3;hHK3;protein Hook homolog 3 APPROVED protein-coding ENSG00000168172 23576 09699 607825 VALIDATED 737614 HOXA1 homeobox A1 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008] 7 7 p15.3 27099137 27102150 - 27132612 27135625 - 1358730;1580863;6480464;7240710 14960295 7622051;19086053;19018953;19018235;18412118;18276758;17967182;17875913;17213808;17171652;17167333;17131398;16597639;16528738;16373333;16344560;16189514;16168961;16155570;15489334;12908836;12853948;12690205;12482855;12477932;12349873;12210285;11857506;11840501;11091361;11070089;10529419;9582372;9463349;8646877;7488013;1973146;20678259;19336002;18482256;19598235;20227628;21106538;23088713;22864671;21980499;21957483;21988832;22498108;22020899;22407312 3198 E7ERT8;P49639 AACC02000007;ABBA01056757;AC004079;AK308067;AK313514;AMYH01017131;BC032547;CH236948;CH471073;DB246535;FB571437;FB571439;NG_011813;NG_033087;NM_005522;NM_153620;S79869;S79871;S79910;U10421;U37431 AAA86954;AAB35423;AAB35424;AAB35425;AAC50248;AAC50249;AAC50250;AAH32547;AAS00374;ABM81810;ABM84964;BAG36294;CAR95136;CAR95137;EAL24228;EAL24229;EAW93861;EAW93862;NP_005513;NP_705873;P49639 Hs.67397 1777557;1795988;1799696;1800158;1802918;1803266;1804446;2058240;2058242;2058244;2058246;2058248;2058250;2058252;2058254;2058256;2058258;2058260;2058262;2058264;2058266;2058268;2058270;2058272;2058274;2058276;2058278;2058280;2058282;2058284;2131749;2192108;2192110;2192112;2192114;5021910 ECD00702;ECD00936;ECD02348;ECD02529;ECD03147;HOXA1__1199;REN100295;REN100296;REN100297;REN100298;REN100299;REN100300;REN100301;REN100302;REN100303;REN100304;REN100305;REN100306;REN100307;REN100308;REN100309;REN100310;REN100311;REN100312;REN100313;REN100314;REN100315;REN100316;REN100317;SHGC-35668;STS-U10421;ha2793;stSG609305;stSG609307;stSG609308;stSG609309 BSAS;HOX1;HOX1F;MGC45232 HOX A1 homeodomain protein;Hox 1.6-like protein;OTTHUMP00000217129;OTTHUMP00000217130;homeobox 1F;homeobox protein Hox-1F;homeobox protein Hox-A1;lab-like protein APPROVED protein-coding ENSG00000105991 5099 00843 142955;601536 REVIEWED 1603377 HOPX HOP homeobox The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009] 4 4 q12 57208921 57242322 - 57514154 57547872 - 6480464 20226564;17576768;17192267;19173292;18507846;18234960;18052042;17498662;16939210;16381901;16344560;15489336;15489334;15457851;15381369;15307938;15213722;14702039;14522464;14516659;12975471;12759545;12573257;12477932;11076863;12297045;22824801;20211142;21061432;20228841;21256618;21700222;14532270;23036489;21382376;22904674 84525 G3V469;Q9BPY8 AA504137;AB019573;AB059408;AB059409;AB059410;ABBA01003431;AC108215;AF454763;AF492675;AF492676;AF492677;AF492678;AF492679;AF492680;AF492681;AK096707;AK123318;AK289707;AMYH01014195;AW955211;BC014225;CB996541;CH471057;CK002567;DA512059;DB180848;EB386856;NM_001145459;NM_001145460;NM_032495;NM_139211;NM_139212 AAH14225;AAL56613;AAM46827;AAM46828;AAM46829;AAM46830;AAM46831;AAM46832;AAM46833;ABM83119;ABW03470;BAB40926;BAB40927;BAB40928;BAF82396;CAL38525;EAX05503;EAX05505;EAX05511;NP_001138931;NP_001138932;NP_115884;NP_631957;NP_631958;Q9BPY8 Hs.619396 1668364;1775234;1775236;1854067;1858568;2125312;2179114;5015619;5015869;5015959;5016596;5022578;5092836 A006D37;A006J04;D10S2448;D11S3114;D1S1423;D4S2787;D4S2900;G20731;G32360;G34373;GDB:313261;GDB:631802;RH17813 CAMEO;HOD;HOP;LAGY;MGC20820;NECC1;OB1;SMAP31;TOTO OTTHUMP00000158969;OTTHUMP00000158970;OTTHUMP00000219000;OTTHUMP00000219001;OTTHUMP00000219002;OTTHUMP00000219003;OTTHUMP00000219004;OTTHUMP00000219005;OTTHUMP00000221050;OTTHUMP00000244618;OTTHUMP00000244619;OTTHUMP00000244620;OTTHUMP00000244621;OTTHUMP00000244622;homeodomain-only protein;lung cancer-associated Y protein;not expressed in choriocarcinoma clone 1;not expressed in choriocarcinoma protein 1;odd homeobox 1 protein;odd homeobox protein 1 APPROVED protein-coding ENSG00000171476 24961 06280 607275 REVIEWED 1346914 HOXA13 homeobox A13 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008] 7 7 p15.2 27203024 27206250 - 27236499 27239725 - 1599526;1580863;6480464;7240710 9020844 19491265;19453261;18483557;18245445;17935235;17274802;15617687;14675924;12853948;12690205;12477932;12414828;12112533;12073020;11968094;11857506;11830496;11688568;11206481;10839976;10835276;10656931;10569982;9847074;8646877;1973146;1358459;2574852;16087734;19145497;19423998;19591980;20301596;21829694;21971947;21626505;21893383;23376215;21890473 3209 P31271;Q6DI00 AACC02000007;ABBA01056761;AC004080;AL597666;AMYH01017133;BC016712;BC075791;CH236948;CH471073;NG_008181;NM_000522;U82827 AAC50993;AAH75791;EAL24218;EAW93890;NP_000513;P31271 Hs.592172 1645590;1680972;1753449;1801126;1801318;1801712;1801714;1803594;1804402;1804890;1804892;1805114;1805862;1806700;1806818;1806956;1807974;1808252;1808326;1808664;1809842;1812100;1814146;1816044;1817802;1820722;1823186;1823258;1823666;1824262;1826596;1828074;1828246;1828786;1828884;1831274;1832300;1835364;1838476;1840664;1842122;1842728;1843046;1844330;1844804;2059166;2059168;2059170;2059172;2059174;2059176;2059178;2059180;2059182;2059184;2059186;2059188;2059190;2059192;2059194;2059196;2059202;2059208;2059216;2059218;2059220;2059222;2059224;2059226;2059228;2059230;2059232;2059234;2059236;2059238;2059240;2059242;2059244;2059246;2059248;2059250;2059252;2059254;2059256;2059258;2059260;2059262;2059264;2059266;2059268;2059270;2059272;2059274;2059276;2059278;2059280;2059282;2059284;2059286;2059288;2059290;2059292;2059294;2059296;2059298;2059300;2059302;2059304;2059306;2059308;2059310;2059312;2059314;2059316;2059318;2059320;2059322;2059324;2059326;2059328;2059330;2059332;2059334;2059336;2059338;2059340;2059342;2059344;2059346;2059348;2059350;2059352;2059354;2059356;2059358;2059360;2059362;2059364;2059366;2059368;2059370;2059372;2059374;2059376;2059378;2059380;2059382;2059384;2059386;2059388;2059390;2059392;2059394;2059396;2059398;2059400;2059402;2059404;2059406;2059408;2059410;2059412;2059414;2059416;2059418;2059420;2059422;2059424;2059426;2059428;2059430;2059432;2059434;2059436;2059438;2059440;2059442;2059444;2059446;2059448;2059450;2059452;2059454;2059456;2059458;2059460;2059462;2059464;2059466;2059468;2059470;2059472;2059474;2059476;2059478;2164776;2192260;2192262;2192266;2192268;2192270;2192272;2192274;2192276;2192278;2192280;2192282;2192284;2192286;2192288;2192290;2192292;2192294;2192296;2192298;2192300;2192302;2192304;2192306;2192308;2192310;2192312;5491369 ECD01435;ECD01531;ECD01736;ECD01737;ECD02701;ECD03125;ECD03380;ECD03381;ECD03499;ECD03884;ECD04307;ECD04374;ECD04443;ECD04965;ECD05107;ECD05144;ECD05314;ECD05913;ECD07055;ECD08102;ECD09062;ECD09955;ECD11436;ECD12682;ECD12718;ECD12925;ECD13229;ECD14412;ECD15160;ECD15248;ECD15520;ECD15569;ECD16773;ECD17289;ECD18837;ECD20412;ECD21522;ECD22264;ECD22571;ECD22731;ECD23379;ECD23618;GDB:1318328;Hoxa13;REN100758;REN100759;REN100760;REN100761;REN100762;REN100763;REN100764;REN100765;REN100766;REN100767;REN100768;REN100769;REN100770;REN100771;REN100772;REN100773;REN100776;REN100779;REN100783;REN100784;REN100785;REN100786;REN100787;REN100788;REN100789;REN100790;REN100791;REN100792;REN100793;REN100794;REN100795;REN100796;REN100797;REN100798;REN100799;REN100800;REN100801;REN100802;REN100803;REN100804;REN100805;REN100806;REN100807;REN100808;REN100809;REN100810;REN100811;REN100812;REN100813;REN100814;REN100815;REN100816;REN100817;REN100818;REN100819;REN100820;REN100821;REN100822;REN100823;REN100824;REN100825;REN100826;REN100827;REN100828;REN100829;REN100830;REN100831;REN100832;REN100833;REN100834;REN100835;REN100836;REN100837;REN100838;REN100839;REN100840;REN100841;REN100842;REN100843;REN100844;REN100845;REN100846;REN100847;REN100848;REN100849;REN100850;REN100851;REN100852;REN100853;REN100854;REN100855;REN100856;REN100857;REN100858;REN100859;REN100860;REN100861;REN100862;REN100863;REN100864;REN100865;REN100866;REN100867;REN100868;REN100869;REN100870;REN100871;REN100872;REN100873;REN100874;REN100875;REN100876;REN100877;REN100878;REN100879;REN100880;REN100881;REN100882;REN100883;REN100884;REN100885;REN100886;REN100887;REN100888;REN100889;REN100890;REN100891;REN100892;REN100893;REN100894;REN100895;REN100896;REN100897;REN100898;REN100899;REN100900;REN100901;REN100902;REN100903;REN100904;REN100905;REN100906;REN100907;REN100908;REN100909;REN100910;REN100911;REN100912;REN100913;REN100914;RH66791;RH93295;SHGC-107406;stSG609399;stSG609400;stSG609403;stSG609404;stSG609405;stSG609406;stSG609407;stSG609408;stSG609409;stSG609410;stSG609411;stSG609413;stSG609414;stSG609415;stSG609416;stSG609417;stSG609419;stSG609420;stSG609421;stSG609422;stSG609423;stSG609424;stSG609425;stSG609426;stSG609427;stSG609430 HOX1;HOX1J OTTHUMP00000217287;homeo box 1J;homeobox protein HOXA13;homeobox protein Hox-1J;homeobox protein Hox-A13;transcription factor HOXA13 APPROVED protein-coding 5102 00847 140000;142959;176305 REVIEWED 1353431 HOXA2 homeobox A2 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27128910 27131331 - 27106498 27108919 - 27139973 27142394 - 1580863;6480464;7240710 19453261;18394579;14702039;12853948;12690205;11857506;8646877;1358459;18029348;20542577;12477932;15617687;19938081 3199 O43364 AACC02000007;ABBA01056757;AC004079;AI581335;AI796505;AK096742;AL079274;AMYH01017131;AW079894;AW292406;BC130571;BC136500;BE465040;BF509655;CH236948;CH471073;NG_012078;NM_006735 AAI30572;AAI36501;AAS00375;BAG53357;EAL24227;EAW93864;NP_006726;O43364 Hs.445239;Hs.592177 1729013;1799584;1799860;1817160;1817670;1845444;2058306;2058308;2058310;2058312;2058314;2058316;2058318;2058320;2058322;2058324;2058326;2058328;2058330;2058332;2058334;2058336;2058338;2058340;2058342;2058344;2108785;2120285;2190997;2192120;2192122;2192124;2192126 ECD00644;ECD00784;ECD09630;ECD09887;ECD23940;HOXA2_989.2;Hoxa2;MARC_12745-12746:1030738152:1;REN100328;REN100329;REN100330;REN100331;REN100332;REN100333;REN100334;REN100335;REN100336;REN100337;REN100338;REN100339;REN100340;REN100341;REN100342;REN100343;REN100344;REN100345;REN100346;REN100347;SHGC-57559;stSG609312;stSG609313;stSG609315;stSG609316 HOX1K OTTHUMP00000217153;homeo box a2;homeobox protein Hox-1K;homeobox protein Hox-A2 APPROVED protein-coding ENSG00000105996 5103 05252 604685;612290 REVIEWED 1320375 HOXA10 homeobox A10 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011] 7 7 p15.2 27176735 27186368 - 27210210 27219880 - 1580863;6480464 20151152;8972230;7700356;19453261;19084499;19022774;18832725;18829447;18456676;18339267;18190961;17709569;17688409;17482600;17439948;17173899;16861351;16647375;16597639;16424022;16344560;16210632;16098858;15905361;15749785;15731295;15674412;15489334;15236964;15213244;14973489;14966272;14960020;14607569;14512427;12853948;12764384;12519859;12493691;12482956;12477932;12215336;12145285;11875117;11857506;11830466;11752456;11585930;11443215;11290589;10766757;10374871;9525980;9408238;9343407;8646877;7906121;7556525;7527557;2574852;2573064;1973146;1676505;1358459;21471217;22279148;22411957;18692240;18930214;19131054;19727442;19736237;19778996;19849868;19854516;19938081;19956865;20009888;20036708;20457539;19017365;21145461;20478621;20400074;20211142;17828513;20463357;20935218;21067721;21087928;20821045;20971605;23108137;21454682;21518888;20371740;21757506;21526497;21328509;21670700;21576276;22493287;21956427;21900391;23092574;23259602;23376215;23038246 3206 P31260;Q5I0Y5 AACC02000007;ABBA01056760;ABBA01056761;AC004080;AF040714;AK312450;AL710880;AMYH01017133;AV687088;BC007600;BC013971;BC071843;BC094807;BF196481;BQ215499;BX439708;CH236948;CH471073;DB267919;M30599;NM_018951;NR_037939;S69027;S69029;X58430 AAA36006;AAB96917;AAD14030;AAD14031;AAH07600;AAH13971;AAH71843;AAH94807;ABM82832;ABM86018;ABM87835;BAG35357;CAB86198;EAW93883;EAW93884;EAW93885;EAW93886;NP_061824;P31260 Hs.110637;Hs.659350 1664297;1675915;1792286;1798344;1798466;1798492;1798500;1798934;1798998;1799140;1800348;1800458;1818084;1821062;2058932;2058934;2058936;2058938;2058940;2058942;2058944;2058946;2058948;2058950;2058952;2058954;2058956;2058958;2058960;2058962;2058964;2058966;2058968;2058970;2058972;2058974;2058976;2058978;2058980;2058982;2058984;2058986;2058988;2058990;2058992;2058994;2058996;2058998;2059000;2059002;2059004;2059006;2059008;2059010;2059012;2059014;2059016;2059018;2059020;2059022;2059024;2059026;2059028;2059030;2059032;2059034;2156665;2192224;2192226;2192228;2192230;2192232;2192234;2192236;2217442 D7S2774;ECD00007;ECD00070;ECD00084;ECD00088;ECD00308;ECD00344;ECD00416;ECD01033;ECD01089;ECD10098;ECD11608;HOXA10_1370;PMC140663P1;REN100641;REN100642;REN100643;REN100644;REN100645;REN100646;REN100647;REN100648;REN100649;REN100650;REN100651;REN100652;REN100653;REN100654;REN100655;REN100656;REN100657;REN100658;REN100659;REN100660;REN100661;REN100662;REN100663;REN100664;REN100665;REN100666;REN100667;REN100668;REN100669;REN100670;REN100671;REN100672;REN100673;REN100674;REN100675;REN100676;REN100677;REN100678;REN100679;REN100680;REN100681;REN100682;REN100683;REN100684;REN100685;REN100686;REN100687;REN100688;REN100689;REN100690;REN100691;REN100692;RH80053;SHGC-33814;stSG609376;stSG609379;stSG609380;stSG609381;stSG609382;stSG609383;stSG609384 HOX1;HOX1.8;HOX1H;MGC12859;PL OTTHUMP00000217273;OTTHUMP00000217274;homeobox protein 1H;homeobox protein HOXA10;homeobox protein Hox-1.8;homeobox protein Hox-1H;homeobox protein Hox-A10 APPROVED protein-coding ENSG00000253293 5100 00845 142957 REVIEWED 735680 HOXA11 homeobox A11 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008] 7 7 p15.2 27187301 27191360 - 27220776 27224835 - 1580863;6480464;7240710 9745033;19453261;19255789;18274672;15731295;15674412;15489334;15467538;15167850;14973489;12853948;12690205;12477932;12060755;12050232;11937757;11857506;11841440;11830496;11585930;11396649;11299969;11101832;10084606;8646877;8570656;2574852;1973146;1358459;15260975;15617687;16087734;19609949;19727442;19938081;20457539;20695189;16963455;19372592;21526497;18029348;21987111;21890473;22251480;22233680 3207 H0YIA6;P31270 AACC02000007;ABBA01056761;AC004080;AF039307;AF071164;AK313921;AL551705;AMYH01017133;BC033706;BC040948;CH236948;CH471073;NG_012079;NM_005523 AAB94761;AAC80455;AAH40948;ABZ92009;BAG36642;EAL24220;EAW93887;EAW93888;NP_005514;P31270 Hs.249171 1664297;1800418;1809018;1814198;1817392;1817674;1818234;1821062;2059026;2059028;2059030;2059032;2059034;2059036;2059038;2059040;2059042;2059044;2059046;2059048;2059058;2059060;2059062;2059066;2059068;2059076;2192238;2192240 ECD01069;ECD05496;ECD08128;ECD09746;ECD09889;ECD10174;ECD11608;REN100688;REN100689;REN100690;REN100691;REN100692;REN100693;REN100694;REN100695;REN100696;REN100697;REN100698;REN100699;REN100704;REN100705;REN100706;REN100708;REN100709;REN100713;SHGC-33814;stSG609385;stSG609386 HOX1;HOX1I OTTHUMP00000217288;homeo box 1I;homeobox a2;homeobox protein HOXA11;homeobox protein Hox-1I;homeobox protein Hox-A11 APPROVED protein-coding ENSG00000005073 5101 00846 142958;605432 REVIEWED 2300356 HOXA11-AS HOXA11 antisense RNA 7 7 7 p15.2 27213966 27217850 + 27191552 27195437 + 27225027 27228912 + 6480464 16344560;12690205;12477932;12050232;9745033 221883 AACC02000007;ABBA01056761;AC004080;AF071165;AF071166;AF071167;AF071168;AF071169;AMYH01017133;BC025338;BI753022;CH236948;DA421792;NG_012079;NR_002795 Hs.587427 1799586;1800418;1801186;1807158;1809018;1817674;2059050;2059052;2059054;2059056;2059058;2059060;2059062;2059064;2059066;2059068;2059070;2059072;2059074;2059076;2059078;2059080;2059082;2059084;2059086;2059088;2059090;2059092;2059094;2059096;2059098;2059100;2059102;2192242;2192244;2192246 ECD00645;ECD01069;ECD01465;ECD04545;ECD05496;ECD09889;REN100700;REN100701;REN100702;REN100703;REN100704;REN100705;REN100706;REN100707;REN100708;REN100709;REN100710;REN100711;REN100712;REN100713;REN100714;REN100715;REN100716;REN100717;REN100718;REN100719;REN100720;REN100721;REN100722;REN100723;REN100724;REN100725;REN100726;stSG609388;stSG609389;stSG609390 HOXA-AS5;HOXA11-AS1;HOXA11AS;HOXA11S;NCRNA00076 APPROVED miscrna ENSG00000240990 24957 607530 VALIDATED 1348178 HOXA@ homeo box A cluster 1973146;1358459 3197 5098 6480831 HOXB-AS1 HOXB cluster antisense RNA 1 17 46620913 46623441 + 10737800 100874362 ABBA01041170;ABBA01041171;AC103702;AI822042;AMYH01008452;BF875734;NR_102279;XR_158916;XR_159288;XR_172210 Hs.171806;Hs.734379 APPROVED miscrna ENSG00000230148 43744 VALIDATED 6480824 HOXB-AS2 HOXB cluster antisense RNA 2 10737800;16344560 100874350 AC103702;BF999536;DA447098 Hs.653055 APPROVED miscrna 40284 736245 HOXA4 homeobox A4 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008] 7 7 p15.2 27134651 27136924 - 27168126 27170399 - 1580863;6480464 1675427;19453261;18410541;17003840;16688227;12853948;12520199;12477932;12031912;11857506;9847074;9665340;9457903;8688592;9202392;8646877;7654365;2576652;2571574;1981366;1973146;1358459;19563517;19723874;21627813;21546695 3201 H0YHX3;Q00056 AACC02000007;ABBA01056759;AC004080;AI277552;AMYH01017132;AW445008;BC126994;CH236948;CH471073;M28199;M74297;NM_002141 AAA53290;AAA58664;AAI26995;AAI60036;EAL24224;EAW93872;NP_002132;Q00056 Hs.533357;Hs.721126 1768787;1797128;1799278;1799654;1820604;1829888;1837816;2058554;2058556;2058558;2058560;2058562;2058564;2058566;2058568;2058570;2058572;2058574;2058576;2058578;2058588;2058590;2058592;2058594;2138916;2192162 D7S2834;ECD00487;ECD00681;ECD11377;ECD16077;ECD20078;G10625;HOXA4;REN100452;REN100453;REN100454;REN100455;REN100456;REN100457;REN100458;REN100459;REN100460;REN100461;REN100462;REN100463;REN100464;REN100469;REN100470;REN100471;REN100472;stSG609337 HOX1;HOX1D Dfd-like protein;Hox-1.4-like protein;OTTHUMP00000024831;OTTHUMP00000242748;homeobox protein Hox-1.4;homeobox protein Hox-1D;homeobox protein Hox-A4 APPROVED protein-coding ENSG00000197576 5105 00841 142953 REVIEWED 6480825 HOXB-AS4 HOXB cluster antisense RNA 4 16344560 100874351 AC103702;AI940041;DB109357 Hs.629601 APPROVED miscrna 40285 2291822 HOXB-AS5 HOXB cluster antisense RNA 5 17 17 q21.3 43254688 43256265 + 46800542 46802119 + 12746837 360205 ABBA01041174;AC091179;AF532777;AMYH01008456;CH471109;NR_024103 EAW94715;EAW94716 Hs.236557 C17orf93;HOXB13-AS1;NCRNA00253;PRAC2 APPROVED miscrna 30143 610787 PREDICTED 1344896 HOXA3 homeobox A3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27134746 27155577 - 27112334 27133164 - 27145809 27166639 - 1580863;6480464 19453261;17972163;16582099;15489334;14702039;12853948;12690205;12477932;11857506;11823429;9894676;9847074;9520319;8889548;8646877;1973146;1358459;15782160;21044950;18029348;20211142 3200 A4D182;B3KPN8;E5RGW8;E5RIJ8;F2Z3A4;O43365 AACC02000007;ABBA01056757;ABBA01056758;ABBA01056759;AC004079;AC004080;AC010990;AK056567;AK094200;AMYH01017131;AMYH01017132;BC015180;BM984673;CH236948;CH471073;NM_030661;NM_153631 AAH15180;AAS00376;ABM81898;ABM85073;BAG51750;BAG52842;EAL24225;EAL24226;EAW93865;EAW93866;NP_109377;NP_705895;O43365 Hs.659337 1658772;1667731;1768900;1794530;1798440;1798464;1798490;1799252;1799400;1799862;1804954;1805594;1806406;1807360;1807972;1808810;1809082;1809084;1809774;1810418;1810696;1811946;1814560;1814562;1819518;1819520;1825278;1826434;1826436;1826510;1828680;1838474;2058354;2058356;2058358;2058360;2058362;2058364;2058366;2058368;2058370;2058372;2058374;2058376;2058378;2058380;2058382;2058384;2058386;2058388;2058390;2058392;2058394;2058396;2058398;2058400;2058402;2058404;2058406;2058408;2058410;2058412;2058414;2058416;2058418;2058420;2058422;2058424;2058426;2058428;2058430;2058432;2058434;2058436;2058438;2058440;2058442;2058444;2058446;2058448;2058450;2058452;2058454;2058456;2058458;2058460;2058462;2058464;2058466;2058468;2058470;2058472;2058474;2058476;2058478;2058480;2058482;2058484;2058486;2058488;2058490;2058492;2058494;2058496;2058498;2058500;2058502;2058504;2058506;2058508;2058510;2058512;2058514;2058516;2058518;2058520;2058522;2058524;2058526;2058528;2058530;2058532;2058534;2058536;2058538;2058540;2058542;2058544;2058546;2058548;2058550;2058552;2058554;2058556;2058558;2058560;2192130;2192132;2192134;2192136;2192138;2192140;2192142;2192144;2192146;2192148;2192150;2192152;2192154;2192156;2192158;2192160 A008T18;ECD00057;ECD00069;ECD00083;ECD00474;ECD00551;ECD00785;ECD03417;ECD03747;ECD04159;ECD04651;ECD04964;ECD05388;ECD05529;ECD05530;ECD05879;ECD06202;ECD06343;ECD06977;ECD08310;ECD08311;ECD10826;ECD10827;ECD13744;ECD14331;ECD14332;ECD14369;ECD15467;ECD20411;PMC316811P1;REN100352;REN100353;REN100354;REN100355;REN100356;REN100357;REN100358;REN100359;REN100360;REN100361;REN100362;REN100363;REN100364;REN100365;REN100366;REN100367;REN100368;REN100369;REN100370;REN100371;REN100372;REN100373;REN100374;REN100375;REN100376;REN100377;REN100378;REN100379;REN100380;REN100381;REN100382;REN100383;REN100384;REN100385;REN100386;REN100387;REN100388;REN100389;REN100390;REN100391;REN100392;REN100393;REN100394;REN100395;REN100396;REN100397;REN100398;REN100399;REN100400;REN100401;REN100402;REN100403;REN100404;REN100405;REN100406;REN100407;REN100408;REN100409;REN100410;REN100411;REN100412;REN100413;REN100414;REN100415;REN100416;REN100417;REN100418;REN100419;REN100420;REN100421;REN100422;REN100423;REN100424;REN100425;REN100426;REN100427;REN100428;REN100429;REN100430;REN100431;REN100432;REN100433;REN100434;REN100435;REN100436;REN100437;REN100438;REN100439;REN100440;REN100441;REN100442;REN100443;REN100444;REN100445;REN100446;REN100447;REN100448;REN100449;REN100450;REN100451;REN100452;REN100453;REN100454;REN100455;RH16603;SGC33676;stSG609318;stSG609319;stSG609320;stSG609322;stSG609323;stSG609326;stSG609327;stSG609328;stSG609329;stSG609330;stSG609331;stSG609332;stSG609333;stSG609334;stSG609335;stSG609336 HOX1;HOX1E;MGC10155 Hox-1.5-like protein;OTTHUMP00000067265;OTTHUMP00000217262;homeo box 1E;homeobox protein Hox-1E;homeobox protein Hox-A3 APPROVED protein-coding ENSG00000105997 5104 00842 142954 REVIEWED 734224 HOXA5 homeobox A5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008] 7 7 p15.2 27147521 27149812 - 27180671 27183287 - 1580863;6480464 19453261;18538349;17957028;17804711;17785556;17167183;16756717;16379594;15757903;15684390;15545268;15489334;14701762;12853948;12690205;12642491;12477932;12163409;11857506;11238043;10879542;10875927;10737800;10397719;9457903;8657138;8646877;8570656;2576652;2568583;1973146;1358459;15617687;19554572;19938081;20846263;20211142;20890077;21311178;22464764;21890473;22876840;23455924;21546695;21532573;19322201;22227861 3202 P20719;Q6FG31 AACC02000007;ABBA01056759;AC004080;AMYH01017132;AW802886;BC013682;BI822268;BT009744;CH236948;CH471073;CR542256;CR542277;M26679;NM_019102 AAA58663;AAH13682;AAP88746;ABM84687;ABM92210;CAG47052;CAG47073;EAL24223;EAW93873;NP_061975;P20719 Hs.655218 1800918;1803010;1803878;1807362;1817224;2058670;2058672;2058674;2058676;2058678;2058688;2058690;2058692;2058694;2058696;2058698;2058700;2058702;2058704;2058706;2058708;2058710;2058712;2166440;2189443;2189753;2192182;2217444;7185490 ECD01324;ECD02396;ECD02852;ECD04652;ECD09662;HOX1;HOXA5_3307;Hoxa5;MARC_6217-6218:992007117:1;REN100510;REN100511;REN100512;REN100513;REN100514;REN100519;REN100520;REN100521;REN100522;REN100523;REN100524;REN100525;REN100526;REN100527;REN100528;REN100529;REN100530;REN100531;UniSTS:57649;stSG609349 HOX1;HOX1.3;HOX1C;MGC9376 OTTHUMP00000217259;homeo box 1C;homeo box A5;homeobox protein HOXA5;homeobox protein Hox-1C;homeobox protein Hox-A5 APPROVED protein-coding ENSG00000106004 5106 00840 142952 REVIEWED 5688501 HOXB-AS3 HOXB cluster antisense RNA 3 17 q21.32 46667823 46683776 + 6480464 11181995;11329013;12477932;7566098;8889548;22484627 404266 D3DTV8;I3L0Z4;I3L347;I3L452;I3L4J5;I3NI35;Q96FJ8 AA299267;ABBA01041172;AC103702;AMYH01008455;BC010732;BF431268;BG196429;BG203124;BG203609;CB046509;CF127739;CH471109;NR_033201;NR_033202;NR_033203;NR_033204;NR_033205;W39335 AAH10732;EAW94727;EAW94732;EAW94733;EAW94734;EAW94735;EAW94736;Q96FJ8 Hs.660088 1298272;1673241;1700252;1741881;1741959;2148589 D17S2180;G10507;GDB:186406;GDB:187025;RH103743;RH17800 APPROVED miscrna ENSG00000233101 40283 VALIDATED 1343560 HOXA7 homeobox A7 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008] 7 7 p15.2 27159860 27162821 - 27193335 27196296 - 1580863;6480464 9804983;11435435;19453261;17959889;16597639;14704364;14702039;14562113;12477932;11857506;10911612;10737800;9847074;9539109;9405651;8646877;7654365;2576652;2574852;2568891;1973146;1358459;12690205;12853948;20634891;20336696;21323949;14973489;17972163;18973687;20540809;21518888;22251480;22085718;19888898;21890473 3204 E5RHM9;P31268 AACC02000007;ABBA01056760;AC004080;AF026397;AF032095;AMYH01017132;AW793597;BC061916;CH236948;CH471073;NM_006896;U92543;X84803 AAB94604;AAD00727;AAD01939;AAI40402;AAI48693;CAA59270;EAL24221;EAW93877;NP_008827;P31268 Hs.610216;Hs.660918 1729015;1800616;1806408;1810774;1818154;1820414;1822898;2058788;2058790;2058792;2058794;2058796;2058798;2058800;2058802;2058804;2058806;2058808;2058810;2058812;2058814;2058816;2058818;2058820;2058822;2058824;2058826;2058828;2112006;2135969;2135971 D7S3010;ECD01169;ECD04160;ECD06385;ECD10134;ECD11282;ECD12537;Hoxa7;REN100569;REN100570;REN100571;REN100572;REN100573;REN100574;REN100575;REN100576;REN100577;REN100578;REN100579;REN100580;REN100581;REN100582;REN100583;REN100584;REN100585;REN100586;REN100587;REN100588;REN100589;RH47950;RH48711 ANTP;HOX1;HOX1.1;HOX1A OTTHUMP00000217256;homeo box A7;homeobox protein HOX-1A;homeobox protein Hox 1.1;homeobox protein Hox-A7 APPROVED protein-coding ENSG00000122592 5108 00838 142950 REVIEWED 1352106 HOXA6 homeobox A6 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008] 7 7 7 p15.2 27174050 27176302 - 27151641 27153893 - 27185202 27187393 - 1580863;6480464 19453261;19157684;15489334;12853948;12690205;12477932;11857506;9247466;8646877;2576652;1973146;1358459;17207965;21890473;23349797 3203 P31267 AACC02000007;ABBA01056760;AC004080;AMYH01017132;BC069497;BC104915;BC104917;BG749730;CH236948;CH471073;NM_024014 AAH69497;AAI04916;AAI04918;ADQ32869;EAL24222;EAW93874;EAW93875;NP_076919;P31267 Hs.679517 1666132;1800798;1810698;1812448;1814922;1815326;2058710;2058712;2058714;2058722;2058724;2058726;2058728;2058730;2058732;2058734;2058736;2058738;2058740;2058742;2058744 D7S150;ECD01261;ECD06344;ECD07231;ECD08492;ECD08699;REN100530;REN100531;REN100532;REN100536;REN100537;REN100538;REN100539;REN100540;REN100541;REN100542;REN100543;REN100544;REN100545;REN100546;REN100547 HOX1;HOX1.2;HOX1B OTTHUMP00000217258;homeo box 1B;homeo box A6;homeobox protein HOXA6;homeobox protein Hox-1B;homeobox protein Hox-A6 APPROVED protein-coding ENSG00000106006 5107 00839 142951 REVIEWED 1320652 HOXA9 homeobox A9 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011] 7 7 p15.2 27168582 27171674 - 27202057 27205149 - 1580863;6480464 16189514;8563754;19453261;19346496;19157684;19056693;18668134;18474618;18410541;18337761;18068911;17885552;17761289;17623056;17586512;17452460;17327400;17178874;16803519;16630659;16381901;16105979;15960975;15681849;15657436;15489336;15489334;15479723;15454493;15254242;15161102;15160920;14764452;14738146;14701735;14562113;14561764;12923056;12853948;12649177;12477932;12138901;12112533;12082612;11857506;11830496;11551904;11076863;11042172;10082572;9880515;9657735;9628584;9058712;8646877;8563753;2574852;1973146;1358459;9343407;12393433;15960974;21259057;22713874;21518888;20141430;11256614;19060904;19620287;19696924;19938081;20068170;20379614;20389018;20565746;20935218;20727230;22902925;22541086;22633751;21480815;23607948;23326393;22945634;22269951;21558411;21294585;21971947;20661663;21467841;22353710;14609952;11585930;22251480;22944570;23028966;23264595;23056278;23349797 3205 A8MVF3;P31269 AACC02000007;ABBA01056760;AC004080;AF010258;AMYH01017133;AW612618;BC006537;BC010023;BG258601;BT006990;CA442923;CH236948;CH471073;NG_029923;NM_152739;U41813;U81511;U82759 AAB40867;AAC23704;AAC23705;AAC50364;AAD08713;AAH06537;AAH10023;AAP35636;ABM83674;ABM86962;CAL38404;EAW93880;NP_689952;P31269 Hs.659350 1657151;1676974;1795990;1798384;1799138;1799254;1799316;1799534;2058860;2058862;2058864;2058866;2058868;2058870;2058872;2058874;2058876;2058878;2058880;2058882;2058884;2058886;2058888;2058890;2058892;2058894;2058896;2058898;2058900;2058902;2058904;2058906;2154833;2192212;2192214;2192216;2192218;5492088 ECD00028;ECD00415;ECD00475;ECD00507;ECD00619;HOX1;HOXA9_991;Hoxa9;REN100605;REN100606;REN100607;REN100608;REN100609;REN100610;REN100611;REN100612;REN100613;REN100614;REN100615;REN100616;REN100617;REN100618;REN100619;REN100620;REN100621;REN100622;REN100623;REN100624;REN100625;REN100626;REN100627;REN100628;RH18061;RH80175;stSG609368;stSG609369;stSG609370;stSG609371 ABD-B;HOX1;HOX1.7;HOX1G;MGC1934 OTTHUMP00000217260;homeobox protein HOXA9;homeobox protein Hox-1G;homeobox protein Hox-A9;homeodomain protein HOXA9 APPROVED protein-coding ENSG00000078399 5109 00844 142956 REVIEWED 1321880 HOXB3 homeobox B3 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008] 17 17 q21.3 43981231 44006809 - 46626232 46651810 - 1580863;6480464 17972163;16344560;15674412;15146197;15085154;14966272;14702039;11971819;11857506;9774637;9556594;9052833;8920965;8646877;7913891;2576652;2574852;2570724;1973146;1358459;8890171;11585930;19477923;19854132;23219899 3213 B3KNJ7;B7Z5N8;B7ZAD0;C9J2I3;F8VXG0;F8W1L2;P14651 ABBA01041171;ABBA01041172;AC103702;AF016029;AF287967;AI633956;AK027609;AK291182;AK299226;AK299265;AK309721;AK315102;AK316245;AMYH01008452;AMYH01008453;AMYH01008454;CH471109;CN358294;DA735249;NM_002146;U59298;X16175;X16667 AAD10852;AAG31555;AAI72242;AAI72550;BAF83871;BAG37563;BAG51359;BAH12974;BAH12984;BAH14616;CAA34297;CAA34657;EAW94739;EAW94740;EAW94741;NP_002137;P14651 Hs.654560 1341843;1680064;1705660;1729017;1742297;1795992;1797698;5020645 D17S1827;G66160;GDB:196132;HOXB3_127;HOXB4_2061;Hoxb3;RH75958;SHGC-83404 HOX2;HOX2G;Hox-2.7 OTTHUMP00000217027;OTTHUMP00000217028;OTTHUMP00000217029;OTTHUMP00000217030;OTTHUMP00000217031;OTTHUMP00000217032;OTTHUMP00000217033;OTTHUMP00000217034;homeo box 2G;homeo box B3;homeobox protein Hox-2.7;homeobox protein Hox-2G;homeobox protein Hox-B3 APPROVED protein-coding 5114 00853 142966 REVIEWED 1321119 HOXB1 homeobox B1 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 q21.3 43961806 43963271 - 46606807 46608272 - 1580863;6480464 11091361;10052460;17713478;17167333;12487626;12477932;11972344;11857506;11840501;11278854;11069920;10671062;10373562;10331985;9482740;8646877;8570656;7913891;2576652;2574852;1973146;1358459;8890171;20371328;20678259;11585930;123121;19477923;20195514;21433221;18029348;21980499;22770981 3211 P14653;Q4VB03 ABBA01041170;AC103702;AF287350;AMYH01008452;BC096191;BC096192;BC096193;BC099633;CH471109;NG_032884;NM_002144;X16666 AAG31762;AAH96191;AAH96192;AAH96193;AAH99633;CAA34656;EAW94746;NP_002135;P14653 Hs.99992 2184604;2217448;5491284;5492535 HOXB1_2983;Hoxb1;RH71278;UniSTS:481565 HCFP3;HOX2;HOX2I;Hox-2.9;MGC116843;MGC116844;MGC116845 OTTHUMP00000217086;homeo box 2I;homeobox protein Hox-2I;homeobox protein Hox-B1 APPROVED protein-coding 5111 00855 142968;614744 REVIEWED 1319269 HOXB13 homeobox B13 This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008] 17 17 q21.2 44157124 44161110 - 46802125 46806111 - 1580863;2314726;2314729;2314730;2314731;2314727;2314728;6480464 19250546;16278676;15756448;15583692;17453342;16803519 19917249;20018680;9665387;18794098;18499701;18163187;17975144;17972163;17942676;17145863;17008703;16792730;16609019;16609001;15928669;15604291;15489334;15126340;12761847;12477932;11857506;9343407;8756292;8125298;22781434;20504375;23393222;20211142;20649975;20454457;22236224;21574054;22297979;22853031;23385818;22718278;23064873;23334858;23129385;23036981;23099437;22714738 10481 Q4KR72;Q92826 ABBA01041174;AC091179;AK225234;AK313266;AMYH01008456;AY937237;BC007092;BC070233;BT007410;CH471109;NM_006361;U57052;U81599 AAB39863;AAC50664;AAH07092;AAH70233;AAP36078;AAY17396;ABM84443;ABM87495;BAG36075;EAW94714;NP_006352;Q92826 Hs.66731 1649873;2217446 HOXB13_3036;STS-U81599 PSGD OTTHUMP00000216942;homeo box B13;homeobox protein Hox-B13 APPROVED protein-coding ENSG00000159184 5112 05210 604607 REVIEWED 1345658 HOXB8 homeobox B8 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008] 17 17 17 q21.3 43143869 43146474 - 44044707 44047300 - 46689708 46692301 - 1580863;6480464 14702039;11857506;11779477;11571641;11438208;10737800;9126347;8646877;2576652;2574852;2570724;1981366;1973146;1358459;15617687;23438671 3218 I3L221;I3L383;I3L3R1;P17481;Q8N8T3 ABBA01041172;ABBA01041173;AC103702;AI277015;AI672407;AK096222;AMYH01008455;AW612644;AY014293;AY014294;BF761142;CH471109;NM_024016;X16173 AAG42143;AAI41561;BAC04730;CAA34295;EAW94723;EAW94724;NP_076921;P17481 Hs.514292 1645958;5492781 D17S727;UniSTS:482549 HOX2;HOX2D;Hox-2.4 OTTHUMP00000216943;homeo box 2D;homeo box B8;homeobox protein Hox-2.4;homeobox protein Hox-2D;homeobox protein Hox-B8 APPROVED protein-coding ENSG00000120068 5119 00851 142963 REVIEWED 1344128 HOXB@ homeo box B cluster 1973146;1358459 3210 5110 6480830 HOXC-AS1 HOXC cluster antisense RNA 1 100874363 AC012531;BU619815;CA429707 Hs.555036 APPROVED miscrna 43749 6480828 HOXC-AS2 HOXC cluster antisense RNA 2 100874364 AC012531;AI935658;BF195843 Hs.734940 APPROVED miscrna 43750 6480959 HOXC-AS3 HOXC cluster antisense RNA 3 100874365 AC012531 APPROVED miscrna 43751 6480827 HOXC-AS5 HOXC cluster antisense RNA 5 12 54329112 54333427 - 15146197 100874366 ABBA01008359;ABBA01008360;AC012531;AMYH01004483;BE905258;BX097788;BX363129;CN364530;NG_033026;NR_047507 Hs.547385 APPROVED miscrna ENSG00000249641 43753 VALIDATED 1320419 HOXB2 homeobox B2 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008] 17 17 q21.32 43975016 43977392 - 46620017 46622393 - 1580863;6480464 1871139;7876223;17805056;16458891;15867264;15489334;12802276;12477932;11857506;11835749;11585930;11238043;10595394;10230789;9556594;7913891;2901346;2576652;2574852;2570724;1973146;1358459;20628624;16079151;19477923;20195514;20625746;20030938;21672623 3212 P14652 AA450237;ABBA01041170;AC103702;AMYH01008452;BC038968;BC074805;BC074806;CH471109;M73999;NM_002145;U12590;X14571;X16176;X16665;X78978 AAA21150;AAB00778;AAH74805;AAH74806;ABZ92010;CAA32709;CAA34298;CAA34655;CAA55581;EAW94743;EAW94744;EAW94745;NP_002136;P14652 Hs.514289 2133133 STS-X16665 HOX2;HOX2H;Hox-2.8;K8 K8 home protein;OTTHUMP00000217087;homeo box 2H;homeo box B2;homeobox protein Hox-2.8;homeobox protein Hox-2H;homeobox protein Hox-B2 APPROVED protein-coding 5113 00854 142967 REVIEWED 1342680 HOXB5 homeobox B5 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008] 17 17 q21.3 44023618 44026102 - 46668619 46671103 - 1580863;6480464 3000607;17623056;15489334;14632303;12950074;12897140;12477932;11857506;11839528;8930688;8688592;8646877;22603795;8101633;6091895;4075393;3453105;3186746;2878432;2576652;2574852;2570724;1981366;1973146;1358459;1355360;21677782;21552713;22484627;21890473;22648184;23438671;22768238 3215 P09067 ABBA01041172;AC103702;AF287967;AK314964;AMYH01008455;BC004454;BC008940;BC117247;BE621135;BQ001097;BQ073272;CH471109;K02572;M86726;M92299;NM_002147;X03794 AAA52681;AAA52682;AAB59430;AAG31553;AAI17248;BAG37466;CAA27420;EAW94737;NP_002138;P09067 Hs.654456 1673241;2148589 G10507;RH17800 HHO.C10;HOX2;HOX2A;HU-1;Hox2.1 OTTHUMP00000216977;homeo box 2A;homeobox protein HHO.C10;homeobox protein Hox-2A;homeobox protein Hox-B5;homeobox protein Hu-1 APPROVED protein-coding ENSG00000120075 5116 00848 142960 REVIEWED 1349103 HOXB7 homeobox B7 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008] 17 17 q21.3 44039593 44043382 - 46684594 46688383 - 1580863;6480464 2885844;17308091;1678287;22603795;17514648;17274802;17203973;17018609;16673309;16597639;15756441;15342556;12697323;12477932;11857506;11522651;11290787;10435624;10233891;10208421;10026139;9681827;9457903;9366523;8756643;8646877;8570656;8125298;8105782;7738096;7530503;2576652;2574852;2573064;2570724;1981366;1973146;1358459;7729685;20480203;11585930;14973489;19878270;19956843;21183939;21832049;22879911;21474578;21953534;21690342;22239410;18029348;22844406;21988832;22553335;22914903 3217 P09629 ABBA01041172;AC103702;AF284825;AF287967;AJ414528;AK223249;AK290653;AMYH01008455;BC015345;BG118354;BM923808;BP342702;BQ233410;CH471109;M16937;M30598;NM_004502;S49765 AAA36003;AAA36005;AAB19469;AAG29814;AAG31551;AAH15345;BAD96969;BAF83342;CAC93674;EAW94725;EAW94726;NP_004493;P09629 Hs.436181 1797700 HOXB7_1567 HHO.C1;HOX2;HOX2C;Hox-2.3 OTTHUMP00000216944;homeo box 2C;homeo box B7;homeo box c1 protein;homeobox protein HHO.C1;homeobox protein Hox-2C;homeobox protein Hox-B7 APPROVED protein-coding ENSG00000260027 5118 00850 142962 REVIEWED 1344417 HOXB4 homeobox B4 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008] 17 17 q21.32 44007868 44010742 - 46652869 46655743 - 1580863;6480464 21098278;18617691;18511880;17962697;17784829;17510218;15489334;14966272;14578882;12791656;12761847;12701098;12477932;12406897;12130496;11984874;11585930;11250656;11085749;10904875;8889548;8688592;2576652;2574852;2570724;1981366;1973146;1358459;1351762;22402911;22298821;20599537;18932205;15617687;19878058;20625746;19549386;20030938;21546695;22000550;22664110;22438249;22120585;22040961;22761810;23028422 3214 P17483 ABBA01041172;AC103702;AF287967;AF307160;AL137449;AMYH01008454;AMYH01008455;BC049204;BM972328;BU161354;CH471109;NM_024015;X16174 AAG31554;AAG45052;AAH49204;CAA34296;CAB70742;EAW94742;NP_076920;P17483 Hs.664706 1797698 HOXB4_2061 HOX-2.6;HOX2;HOX2F OTTHUMP00000217026;homeo box 2F;homeobox protein Hox-2.6;homeobox protein Hox-2F;homeobox protein Hox-B4 APPROVED protein-coding 5115 07032 142965 REVIEWED 1602502 HOXB6 homeobox B6 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008] 17 17 q21.3 44028098 44037333 - 46673099 46682334 - 6480464 17003840;16189514;15489334;13678718;12477932;12094253;11857506;11585930;11238043;10906782;10833444;10327653;9922051;9126347;9108390;8696343;8646877;7906121;7729685;6091895;2888083;2576652;2574852;2573064;2570724;1981366;1973146;1672751;1358998;1358459;15269212;22603795;19477923;17207965;20211142 3216 P17509;Q16124 ABBA01041172;AC103702;AF287967;AI283987;AI352188;AK292200;AMYH01008455;AW370639;BC014651;CH471109;K02571;M30597;NM_018952;S69023;X58431 AAA36004;AAD14028;AAG31552;AAH14651;ABM81658;ADQ31671;BAF84889;CAA41335;CAA41336;EAW94728;EAW94729;EAW94730;EAW94731;NP_061825;P17509 Hs.98428 1298272;1700252;1729019;1741881;1741959;2190841 D17S2180;GDB:186406;GDB:187025;HOXB;Hoxb6;RH103743 HOX2;HOX2B;HU-2;Hox-2.2 OTTHUMP00000216975;OTTHUMP00000216976;homeo box 2B;homeo box B6;homeobox protein Hox-2.2;homeobox protein Hox-2B;homeobox protein Hox-B6;homeobox protein Hu-2 APPROVED protein-coding ENSG00000108511 5117 00849 142961 REVIEWED 1316332 HOXC10 homeobox C10 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54028565 54033680 + 52665213 52670330 + 54378946 54384063 + 1580863;6480464 10835276;11445587;19522674;17974957;15489334;12853486;12477932;11857506;9357979;8646877;2878432;2574852;1358459;16799092;22939629;21693764;19471022 3226 D6RAG4;Q53XI4;Q9NYD6 ABBA01008362;AC012531;AF255675;AK313759;AL558161;AMYH01004483;BC001293;BT009921;CH471054;NM_017409;X99684;X99685 AAF67759;AAH01293;AAP88923;ADZ15891;BAG36498;CAA67999;CAA68000;EAW96738;EAW96739;EAW96740;NP_059105;Q9NYD6 Hs.44276 1729021;2171265 Hoxc10;STS-N31842 HOX3I;MGC5259 OTTHUMP00000217387;homeo box C10;homeobox protein Hox-3I;homeobox protein Hox-C10;homeoprotein C10 APPROVED protein-coding ENSG00000180818 5122 05710 605560 REVIEWED 1351931 HOXC4 homeobox C4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008] 12 12 q13.3 52696909 52736081 + 54410642 54449814 + 1580863;6480464 19363484;16582099;16344560;16215934;15674412;15252056;12672812;12477932;11857506;11279128;9327740;8646877;7915745;7718879;7566098;2898768;2878432;2576652;2574852;1973146;1358459;17207965;20855884;19236766;22298821;21988832;22504420;23275563 3221 P09017;Q86TF7 AA331371;AA621965;ABBA01008362;AC012531;AC023794;AMYH01004485;AMYH01004486;AY014297;AY014298;BC050442;BQ893403;CH471054;DA905719;NG_029818;NM_014620;NM_153633;X07495 AAG42145;AAH50442;ADQ33042;CAA30376;EAW96744;EAW96749;NP_055435;NP_705897;P09017 Hs.549040 1334897;1656467;1744017;1747713;1769098;1769742;1797702;1854213;2110537;2110549;2182084;5491384;5494208;7186259 D12S103;D12S1961;G64243;GDB:384845;HOX3A;HOXC5_135.2;Hoxc4;MARC_44017-44022:1098368610:3;MARC_46193-46194:1108499233:1;RH65687;STS-M16938;STS-S82986;STS-X61755 HOX3;HOX3E;cp19 OTTHUMP00000217392;OTTHUMP00000217393;homeo box 3E;homeo box C4;homeobox protein CP19;homeobox protein Hox-3E;homeobox protein Hox-C4 APPROVED protein-coding ENSG00000198353 5126 00860 142974 REVIEWED 1314613 HOXB9 homeobox B9 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008] 17 17 q21.3 44053517 44058834 - 46698518 46703835 - 1580863;6480464 10617598;19341834;17148583;16344560;16189514;15839736;15489334;14702039;12477932;11857506;11585930;11485933;11070089;9922051;8646877;2576652;2574852;2570724;1981366;1973146;1712647;1358459;19060904;19576624;20080567;18029348;20211142;21428455;22990118;21139048;21930940;22225776;22396001;23350386;22863320 3219 B3KPJ1;F8W0V6;P17482 ABBA01041173;AC103702;AK026084;AK056123;AK056414;AK315480;AMYH01008455;AMYH01008456;AY014295;AY014296;BC015565;BF305592;BX114117;CA426693;CH471109;DA696753;DA712230;NM_024017;X16172 AAG42144;AAH15565;BAG37864;BAG51703;CAA34294;EAW94721;NP_076922;P17482 Hs.463350 1701116;1795994 HOXB9_997;RH104186 HOX-2.5;HOX2;HOX2E OTTHUMP00000216946;OTTHUMP00000243325;homeo box 2E;homeobox protein Hox-2.5;homeobox protein Hox-2E;homeobox protein Hox-B9 APPROVED protein-coding ENSG00000170689 5120 00852 142964 REVIEWED 1313485 HOXC11 homeobox C11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54016511 54019822 + 52653177 52656470 + 54366910 54370203 + 1580863;6480464 17488478;15489334;12477932;11857506;9357979;8646877;2878432;2574852;1973146;1358459;9582375;20145129;17207965;20211142;18029348;18654987;19322201 3227 J3KMZ0;O43248 ABBA01008361;AC012531;AJ000041;AK291946;AMYH01004483;BC001543;CH471054;NM_014212;X99630 AAH01543;ADQ31878;BAF84635;CAA03876;EAW96736;NP_055027;O43248 Hs.127562 1747989;1795996 G64260;HOXC11_450 HOX3H;MGC4906 OTTHUMP00000217351;OTTHUMP00000242939;homeo box C11;homeobox protein Hox-3H;homeobox protein Hox-C11 APPROVED protein-coding ENSG00000123388 5123 09275 605559 REVIEWED 1321500 HOXC12 homeobox C12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 53998317 53999953 + 52634981 52636617 + 54348714 54350350 + 1580863;6480464 11857506;9357979;2574852;1973146;1358459 3228 P31275 ABBA01008361;AC012531;AF328962;AF328963;AK125569;AMYH01004483;CH471054;NM_173860;X99631 AAI60004;AAK16717;EAW96735;NP_776272;P31275 Hs.381267;Hs.587727 HOC3F;HOX3;HOX3F OTTHUMP00000217350;homeo box 3F;homeo box C12;homeobox protein Hox-3F;homeobox protein Hox-C12 APPROVED protein-coding 5124 00861 142975 REVIEWED 1345222 HOXC@ homeo box C cluster 1973146;1358459 3220 5121 1349214 HOXC13 homeobox C13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008] 12 12 q13.3 52618843 52626595 + 54332576 54340328 + 1580863;6480464 10835276;19182517;15489334;15385554;14702039;12477932;12461755;11857506;11118201;10674376;9357979;8646877;2878432;2574852;1973146;1358459;20460270;15617687;17331444;18692240;19665070;20211142;20935629;23063621;21906983;20661663;22583695 3229 P31276;Q86TI1 AA722686;ABBA01008360;AC012531;AF255676;AF263466;AK024027;AMYH01004483;BC002754;BC090850;BT009908;BU158600;CH471054;NG_033026;NM_017410;X99679 AAF67760;AAF73439;AAH90850;AAP88910;BAB14786;CAA67995;EAW96734;NP_059106;P31276 Hs.118608 1675029;1718531;1757423;1795998 HOXC13_133;RH122467;SHGC-144808;STS-AA024448 ECTD9;HOX3;HOX3G NUP98/HOXC13;OTTHUMP00000217349;homeo box 3G;homeobox protein Hox-3G;homeobox protein Hox-C13 APPROVED protein-coding ENSG00000123364 5125 00862 142976;614931 REVIEWED 1344989 HOXC5 homeobox C5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54060259 54078762 + 52696909 52715412 + 54410642 54429145 + 1580863;6480464 1346761;16344560;16215934;12477932;11857506;8646877;7913891;2898768;2878432;2576652;2574852;1973146;1358459;18029348;21890473;22504420 3222 Q00444;Q14543 ABBA01008362;AC012531;AC023794;AMYH01004485;BC034922;BC044635;CH471054;NG_029818;NM_018953;NR_003084;X52402;X61755 AAI40273;AAI41644;CAA36647;CAA43894;EAW96745;EAW96748;NP_061826;Q00444 Hs.549040 1656467;1744017;1747713;1769098;1769742;1797702;1854213;2110537;2110549;2182084 D12S1961;G64243;GDB:384845;HOXC5_135.2;MARC_44017-44022:1098368610:3;MARC_46193-46194:1108499233:1;RH65687;STS-M16938;STS-S82986;STS-X61755 CP11;HOX3;HOX3D OTTHUMP00000217386;homeo box C5;homeobox protein CP11;homeobox protein Hox-3D;homeobox protein Hox-C5 APPROVED protein-coding ENSG00000172789 5127 00859 142973 REVIEWED 1348360 HOXC6 homeobox C6 This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008] 12 12 q13.3 52696909 52710874 + 54410642 54424607 + 1580863;6480464 8870653;17488478;16344560;15839736;15637592;15489334;12477932;11857506;8646877;7738096;2898768;2885844;2878432;2576652;2574852;1973146;1358459;19236766;8890171;21683083;21832049;21906983;22896703;21890473;22504420;23581417 3223 D6RBH4;D6RC34;P09630 ABBA01008362;AC012531;AK314829;AMYH01004485;AW445186;BC074844;BC074845;BF034547;BF108967;CH471054;CR456954;M16938;NG_029818;NM_004503;NM_153693;S82986 AAA36007;AAB46892;AAH74844;AAH74845;ABZ92011;BAG37349;CAG33235;EAW96746;EAW96747;NP_004494;NP_710160;P09630 Hs.549040 1656467;1747713;1769098;1854213;2110537;2110549;5492695 G64243;MARC_44017-44022:1098368610:3;MARC_46193-46194:1108499233:1;RH65687;STS-M16938;STS-S82986;UniSTS:482059 CP25;HHO.C8;HOX3;HOX3C OTTHUMP00000217382;OTTHUMP00000217383;OTTHUMP00000217385;homeo box 3C;homeo box C6;homeo box C8 protein;homeobox protein CP25;homeobox protein HHO.C8;homeobox protein Hox-3C;homeobox protein Hox-C6 APPROVED protein-coding ENSG00000197757 5128 00858 142972 REVIEWED 5688493 HOXD-AS1 HOXD cluster antisense RNA 1 2 q31.2 177037923 177053686 - 12477932;16712791;23535730;20852632 401022 ABBA01062220;AC009336;AMYH01011292;BC030713;BC047481;CB153479;NR_033979 Hs.98661 1643794;1660489;1684520 RH68884;RH69263;RH92263 APPROVED miscrna 43755 VALIDATED 1353627 HOXC8 homeobox C8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008] 12 12 q13.3 52689157 52692814 + 54402890 54406547 + 1580863;6480464 16637071;15489334;14973489;12925734;12477932;11857506;11813208;11551904;11139569;10722652;10617598;10224145;9357979;8646877;8104467;2886047;2885844;2878432;2576652;2574852;1973146;1358459;15960974;17474147;9111364;20736365;21047772;21712827 3224 P31273 ABBA01008362;AC012531;AK290959;AMYH01004484;AY014299;AY014300;BC053898;BU156590;BU618342;CH471054;NM_022658;X99680;X99681 AAG42146;AAH53898;BAF83648;CAA67996;CAA67997;EAW96743;NP_073149;P31273 Hs.664500 1729023;1797704;2110535;2110539;5492100 HOXC8_2494;Hoxc8;MARC_41665-41666:1086710236:1;MARC_43876-43875:1099078210:3;MARC_44360-44361:1099347855:1 HOX3;HOX3A Hox-3.1, mouse, homolog of;OTTHUMP00000217389;homeo box 3A;homeobox protein Hox-3A;homeobox protein Hox-C8 APPROVED protein-coding 5129 00856 142970 REVIEWED 5688612 HOXD-AS2 HOXD cluster antisense RNA 2 2 q31.1 176999569 177001826 - 12477932 100506783 ABBA01062219;AC009336;AMYH01011292;BC009347;BC034000;NR_038435 Hs.667234 APPROVED miscrna 43756 VALIDATED 1314056 HOXC9 homeobox C9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 54043494 54046738 + 52680144 52683388 + 54393877 54397121 + 1580863;6480464 21493894;21507931;18305892;17588684;15489334;14973489;14702039;12477932;11857506;9357979;8646877;8570656;7967520;2878432;2576652;2574852;1973146;19506903;17207965;20211142;22106857 3225 P31274;Q8N561 ABBA01008362;AC012531;AK000445;AK315194;AMYH01004483;AY014301;AY014302;BC021265;BC032769;BC053894;CH471054;NM_006897;X99682 AAG42151;AAH32769;AAH53894;ADQ32563;BAG37634;CAA67998;EAW96741;EAW96742;NP_008828;P31274 Hs.658823 1797706;2110101;2110541;2131533;2180065 HOXC9_2416;MARC_44775-44776:1100041323:1;RH68776;SGC35159;UniSTS:468838 HOX3;HOX3B OTTHUMP00000217390;OTTHUMP00000217391;homeo box C9;homeobox protein Hox-3B;homeobox protein Hox-C9 APPROVED protein-coding ENSG00000180806 5130 00857 142971 REVIEWED 1346896 HOXD11 homeobox D11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008] 2 2 q31.1 176680330 176682562 + 176972084 176974316 + 1580863;6480464 17236141;12477932;12357469;12217321;11857506;11782354;11778160;11493536;11060466;10364522;10075849;9343407;9323126;2574852;1973146;1358459;8890171;19255789;19453261;19540081;19938081;20085705 3237 P31277 ABBA01062216;ABBA01062217;AC009336;AF154915;AMYH01011292;BC109394;BE260674;CH471058;NG_008133;NM_021192 AAF79045;AAI09395;AAI60135;EAX11092;NP_067015;P31277 Hs.421136 1797708;5492601;5492811 HOXD11_2590;UniSTS:481748;UniSTS:482718 HOX4;HOX4F Hox-4.6, mouse, homolog of;OTTHUMP00000217528;homeo box 4F;homeobox protein Hox-4F;homeobox protein Hox-D11 APPROVED protein-coding 5134 00869 142986 REVIEWED 1315169 HOXD10 homeobox D10 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008] 2 2 q31.1 176689738 176692916 + 176981492 176984670 + 1580863;6480464;7240710 1756725;18922890;17417092;17236141;16331564;16103068;15489334;15368082;15146389;14973489;12954737;12477932;12466126;12357469;11857506;11778160;11585930;11060466;10523646;10364522;9773404;8100684;7967520;7913891;2576652;2574852;1981366;1973146;1363084;1358459;1351871;8890171;19453261;21419107;22293682;22160393 3236 P28358 AA653427;ABBA01062217;AC009336;AI651040;AL526269;AMYH01011292;AW243295;AW299531;BC069619;BC074760;BX114645;CH471058;NG_008133;NM_002148;X59373 AAH69619;AAH74760;ABZ92012;CAA42017;EAX11091;NP_002139;P28358 Hs.123070 1729025;1742163 GDB:192883;Hoxd9 HOX4;HOX4D;HOX4E;Hox-4.4 OTTHUMP00000163335;homeo box 4D;homeobox protein Hox-4D;homeobox protein Hox-4E;homeobox protein Hox-D10 APPROVED protein-coding ENSG00000128710 5133 00867 142984;192950 REVIEWED 1320327 HOXD12 homeobox D12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 170573680 170574638 + 176672776 176673734 + 176964530 176965488 + 1580863;6480464 17236141;16331564;12477932;12357469;11857506;11778160;11060466;11036080;10364522;9343407;9323126;2574852;1973146;1675198;1358459;19453261;19540081;19938081;20085705;11585930 3238 B5MCD3;P35452 ABBA01062216;AC009336;AF154915;AMYH01011292;BC069088;BC121103;BC121104;BG031716;CH471058;NM_021193 AAF79044;AAI21104;AAI21105;EAX11093;EAX11094;NP_067016;P35452 Hs.450028 5493955 UniSTS:480513 HOX4H Hox-4.7, mouse, homolog of;OTTHUMP00000217531;OTTHUMP00000217532;homeobox protein Hox-4H;homeobox protein Hox-D12 APPROVED protein-coding ENSG00000170178 5135 00871 142988 REVIEWED 1318172 HOXD13 homeobox D13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008] 2 2 q31.1 176665778 176668912 + 176957532 176960666 + 1599534;1580863;6480464;7240710 8817328 12357469;9207113;8614804;19540081;19488988;19453261;19060004;18758158;18566322;18399101;18244901;18072967;17853405;17656229;17236141;17216618;16861351;16331564;16222680;15952114;15696469;12900906;12649808;12620993;12414828;22373878;11857506;11778160;11329013;11060466;9758628;9323126;9005557;7581388;2574852;1973146;1675198;1358459;15617687;16087734;19686284;19703996;21068127;20386744;20974300;11585930;21814222;22161087;21139048;21890473;22374128;22406499;22613470 3239 P35453 AB032481;ABBA01062216;AC009336;AF005219;AF005220;AMYH01011292;BG204577;BX100910;CH471058;NG_008137;NM_000523 AAC51635;AAI48864;AAI52761;BAA95352;EAX11095;NP_000514;P35453 Hs.152414 1793592;1793594;1793596;2190749;2217450 HOXD13_3043;PMC23843P1;PMC23843P2;PMC23843P3;UniSTS:265598 BDE;BDSD;HOX4I;SPD OTTHUMP00000217534;homeo box 4I;homeobox protein Hox-4I;homeobox protein Hox-D13 APPROVED protein-coding ENSG00000128714 5136 00872 113200;113300;142989;186000;186300;192350;610713 REVIEWED 1349678 HOXD@ homeo box D cluster 1973146;1358459 3230 5131 1319375 HOXD1 homeobox D1 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008] 2 2 q31.1 176761553 176763881 + 177053307 177055635 + 1580863;6480464 12477932;11857506;11731253;11455954;11060466;10908280;10364522;8104620;7913891;7501971;2576652;1973146;1358459;21501586;19453261;19938081;20852632;20211142;22930747 3231 Q96CA4;Q9GZZ0 ABBA01062220;AC009336;AF202118;AF241528;AK314120;AMYH01011292;BC014477;BC028190;CH471058;NM_024501 AAG29939;AAG44444;AAH14477;AAH28190;ABM83163;ABM86363;BAG36811;EAX11080;NP_078777;Q9GZZ0 Hs.83465 1643794;1796000 HOXD1_1231;RH68884 HOX4;HOX4G;Hox-4.7 OTTHUMP00000163336;homeo box 4G;homeobox protein Hox-D1;homeobox protein Hox-GG APPROVED protein-coding ENSG00000128645 5132 00870 142987 REVIEWED 1344554 HOXD3 homeobox D3 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008] 2 2 q31.1 176737051 176746072 + 177028805 177037826 + 1580863;6480464 19283074;17785556;17126050;15545924;15489334;14633614;14610084;12477932;12405287;11857506;11060466;10648567;10364522;9520319;7913891;7742539;2886047;2576652;2574852;1973146;1712489;1358459;1358204;8890171;20212450;12836255;19453261;19938081;20211142;20852632;23088713;21207416;22935821 3232 C9J1M3;P31249 ABBA01062219;ABBA01062220;AC009336;AMYH01011292;BC005124;BC008789;CH471058;D11117;NM_006898;Y09980 AAH05124;AAH08789;ABM83900;ABM87221;BAA01891;CAA71102;EAX11085;NP_008829;P31249 Hs.93574 1660489 RH69263 HOX1D;HOX4;HOX4A;Hox-4.1;MGC10470 Hox-4.1, mouse, homolog of;OTTHUMP00000163342;OTTHUMP00000205238;OTTHUMP00000217533;homeobox protein Hox-4A;homeobox protein Hox-D3 APPROVED protein-coding ENSG00000128652 5137 00863 142980 REVIEWED 1320172 HOXD4 homeobox D4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 q31.1 176724359 176726197 + 177016113 177017951 + 1580863;6480464;7240710 2879245;19232136;15776434;15489334;12477932;11857506;11778160;11585930;11060466;10523646;10364522;9748262;7913891;2576652;1975093;1973146;1358459;11279128;20686522;19453261;19938081;20211142 3233 P09016 ABBA01062219;AC009336;AK313885;AMYH01011292;BC016763;BC074797;CH471058;NG_012080;NM_014621;X04706;X17360 AAH16763;AAH74797;BAG36610;CAA28411;CAA35237;EAX11086;NP_055436;P09016 Hs.591609 1665204;5492681;5494035 STS-X17360;UniSTS:480790;UniSTS:482013 HHO.C13;HOX-5.1;HOX4;HOX4B;Hox-4.2 Hox-4.2, mouse, homolog of homeo box X;OTTHUMP00000163340;homeo box d4;homeobox protein HHO.C13;homeobox protein Hox-4B;homeobox protein Hox-5.1;homeobox protein Hox-D4 APPROVED protein-coding ENSG00000170166 5138 00864 142981 REVIEWED 1353721 HPC1 hereditary prostate cancer 1 7240710 8910276;9497242 5513 AF172072 2293407;2293442;2299879;2299880;2299882 PRSTS198_H;PRSTS277_H;PRSTS312_H;PRSTS313_H;PRSTS314_H 5143 601518 1345191 HPCX hereditary prostate cancer, X-linked 7240710 9771711 9566 1340800;5112470;7186795 DXS1113;DXS984 2293413 PRSTS210_H 5146 1351859 HOXD8 homeobox D8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 2 q31.1 170603640 170605908 + 176702723 176704974 + 176994422 176997423 + 1580863;6480464 2568311;12477932;12357469;11857506;11060466;10364522;8100165;7913891;7501971;1973146;1358459;1351871;19453261;19825936;19938081;8890171;21900206 3234 F8VSA3;P13378 ABBA01062218;ABBA01062219;AC009336;AL530925;AMYH01011292;AW140108;AY014303;BC038709;BC090853;BI764317;BQ429720;CH471058;NM_001199746;NM_001199747;NM_019558;X15507 AAG42152;AAH38709;AAH90853;CAA33529;EAX11089;NP_001186675;NP_001186676;NP_062458;P13378 Hs.301963 2151209;2177609;2218550 HOXD8_4104;RH18089;SHGC-52388 HOX4;HOX4E;HOX5.4 Hox-4.5;Hox-4.5, mouse, homolog of;OTTHUMP00000163337;OTTHUMP00000205236;OTTHUMP00000205237;homeo box 4E;homeo box D8;homeobox protein 5.4;homeobox protein Hox-4E;homeobox protein Hox-5.4;homeobox protein Hox-D8 APPROVED protein-coding ENSG00000175879 5139 00868 142985 REVIEWED 1354432 HOXD9 homeobox D9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008] 2 2 q31.1 176695334 176697770 + 176987413 176989645 + 1580863;6480464 1756725;17236141;15770739;12520199;12477932;12060849;11857506;11778160;11060466;10642795;10364522;9079695;8890171;8889548;7926763;7779685;2574852;2568311;1973146;1358459;10523646;20700443;19453261;19938081;20211142;21600039;22520331 3235 P28356 ABBA01062218;AC009336;AI264311;AMYH01011292;BC044855;BF055327;BU732638;CH471058;NG_009225;NM_014213;X15506;X59372 AAH44855;CAA33528;CAA42016;EAX11090;NP_055028;P28356 Hs.236646 1729025;1796002;2113488;2153909 HOXD9_1230;Hoxd9;RH18119;UniSTS:474753 HOX4;HOX4C;Hox-4.3;Hox-5.2 Hox-4.3, mouse, homolog of;OTTHUMP00000163341;homeobox protein Hox-4C;homeobox protein Hox-5.2;homeobox protein Hox-D9 APPROVED protein-coding 5140 00865 142982 REVIEWED 735421 HPCA hippocalcin The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008] 1 1 p35-p34.2 33124685 33132834 + 33352098 33360247 + 728546;6480464 8166736 17286855;11964161;8387172;16053445;15489334;14638856;12477932;11836243;10899114;9931466;8360179;1280427;9427749;19332348;19686238;21906983;22544757 3208 P84074;Q5U068 AB015202;ABBA01023392;AC114493;AK313907;AMYH01000474;BC001777;BT019750;BT019789;CH471059;D16593;DQ426877;NM_002143 AAH01777;AAV38555;AAV38592;ABD90537;ACE87079;ACE87759;BAA04019;BAA74456;BAG36630;EAX07494;EAX07495;EAX07496;EAX07497;EAX07498;NP_002134;P84074 Hs.632391 1656138;1667513;1730253;2155748 D1S285E;G29323;G34862;RH15950 BDR2 OTTHUMP00000004138;calcium-binding protein BDR-2;neuron specific calcium-binding protein hippocalcin;neuron-specific calcium-binding protein hippocalcin APPROVED protein-coding ENSG00000121905 5144 00811 142622 REVIEWED 1351929 HPE1 holoprosencephaly 1, alobar 7240710 7485157 3244 5149 1345391 HPFH2 hereditary persistence of fetal hemoglobin, heterocellular, Indian type 3247 5153 1606796 HP1BP3 heterochromatin protein 1, binding protein 3 1 1 1 p36.12 19394945 19438922 - 20941758 20985768 - 21069171 21113181 - 6480464 19165527;14702039;12477932;21145461;22586326;20042602;20379614;20800603;19394292;19454010;22990118;21832049;22939629;19471022;21139048;21693764;21890473;21907836;21628590;21252943 50809 B0QZK4;B0QZK5;B0QZK6;B0QZK7;B0QZK8;B0QZK9;Q5SWC8;Q6PIM9 ABBA01059794;ABBA01059795;AF113534;AK023129;AK025754;AK291252;AK303456;AK304065;AL606477;AL663074;AL833978;AMYH01000323;BC032139;BC045660;BC046170;BC053327;BE247224;BM312215;CH471134;CK000759;NM_016287 AAF14871;AAH32139;AAH45660;ACE87698;BAF83941;BAG51160;BAG64500;BAG64972;CAD38822;EAW94950;EAW94951;EAW94952;EAW94953;NP_057371;Q5SSJ5 Hs.142442 1646057;1719393;2146663;2182249;5020881;5021369;5037552;5125266;5491738 D8S2279;G34827;HP1BP3;L17709;L17796;RH123425;RH16441;SHGC-33541;SHGC-74324 HP1-BP74;MGC43701;RP5-930J4.3 HP1-BP74;OTTHUMP00000002716;OTTHUMP00000002717;OTTHUMP00000002719;OTTHUMP00000002720;heterochromatin protein 1-binding protein 3 protein-coding ENSG00000127483 24973 11026 VALIDATED 1348718 HPCAL4 hippocalcin like 4 The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. [provided by RefSeq, Jul 2008] 1 1 1 p34.2 38426386 38438833 - 39917232 39929676 - 40144645 40157089 - 6480464 10520747;11256614;16710414;16381901;16189514;15489336;15489334;12477932;11230166;11076863;20379614;21900206 51440 B4DG51;Q9UM19 AB001105;ABBA01023203;ABBA01023204;AK294412;AK294813;AK312314;AL035404;AL136591;AMYH01000524;BC030827;CH471059;NM_016257 AAH30827;ABM83266;ABM86471;BAA86892;BAG35239;BAG57662;BAG57930;CAB66526;CAL37539;CAL38465;EAX07257;EAX07258;NP_057341;Q9UM19 Hs.743975 1649740;1675045;2154190;2181879 D1S1805E;RH78210;SHGC-74640;WI-12211 DKFZp761G122;HLP4 OTTHUMP00000010835;hippocalcin-like protein 4 APPROVED protein-coding ENSG00000116983 18212 17113 REVIEWED 1352750 HPLH1 hemophagocytic lymphohistiocytosis 1 7240710 9915955 27259 23824 737269 HP haptoglobin This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q22.2 70646009 70652458 + 72088508 72094955 + 1626355;1626365;1626394;1626335;1626340;1626361;1626378;1626350;1626353;1626356;1626362;1626381;1626348;1626351;1626344;1626352;1626363;1626370;1626374;1626375;1626391;1626341;1626346;1626366;1626337;1626342;1626349;1626354;1626360;1626367;1626339;1626343;1626345;1626347;1626376;5147383;5147418;5147419;5147385;5147442;5147420;5147384;5147444;5147425;5144216;5144151;5147440;5147416;6480464;5509920 3690840;17203959;9435654;17598972;17068284;6218601;11521461;10606363;2043024;3094379;7281841;11072799;12468764;7606649;16673012;8228210;884791;15899029;12940443;12801280;10569800;17007284;15181041;17187421;17220952;16944942;11807829;2613263;3990081;16968543;17161237;16879055;16360363;12540619;12669191;20957478;20016403;19943874;19396720;17446058;19703762;16775491;19566548;21388634;21471098;19023114;21595649;21169467 15490286;12113290;22901189;22939808;7036344;14718574;19569003;19569002;19474129;19457062;19455468;19446743;19440331;19404920;19402793;19367581;19356838;19347351;19306859;19296903;19296479;19291877;19259359;19210891;19131549;19108738;19101688;19074141;18959750;18951869;18848136;18787013;18760271;18691072;18636124;18563533;18554871;18413152;18332093;18291005;18258668;18257091;18082523;18032779;17918239;17910034;17880628;17822661;17764509;17678914;17525367;17460152;17426810;17357835;17304451;17275123;17220636;17102136;17087019;17082477;16740002;16681422;16644889;16637741;16436647;16407342;16335952;16224193;16176058;16123372;16086594;16009149;15960705;15866595;19322201;21953030;22731712;15489334;15385675;15333469;15306193;15274115;15103512;15049697;15019547;14999562;14967153;14760718;14711515;14702039;14657203;14629808;14616769;14597045;12942785;12941748;12941730;12938813;12867276;12792358;12754519;12477932;12388365;12372461;12187922;12174790;12074569;12018475;11967116;11909563;11865982;11865981;11865979;11865978;11854028;11565553;11564959;11529861;11436564;11427216;11380078;11196644;11109501;10493829;9463309;9352226;8945641;8889549;7378053;6997877;6688992;6546723;6330675;6325933;6310599;6310515;4573324;4018023;3519135;3455911;2987228;2820712;2787245;1478675;16712791;19913121;20417195;20552021;20587610;20602615;20628086;21296538;20376581;16099106;18583979;19171342;19379511;19433579;19444643;19682981;19720796;19740759;19743954;19751729;19785722;19801537;19804773;19805376;19879940;19956848;20017911;20064496;20066028;20109103;20351714;20368232;20444272;18075673;19472074;20521439;20371432;20943062;20881411;20926521;21053180;20372805;20877498;20822092;20972727;21294680;21287512;21224490;21240070;22629362;21103663;21253648;21262313;21297956;21323605;21316675;21401731;21748360;21767674;20360068;21755356;21434877;21708824;21986563;22290142;21147083;21159311;23455922;21866866;21546768;21380457;21555971;18624398;21953462;19463740;21651321;22028908;22923205;22573378;21507405;22098782;20686565;22403646;22433445;21315066;22219064;22300541;23164167;23283045;16676348;15174051;21988832;23272204;23312704;22916037;23016887;23457771;22447230 3240 H0Y300;H3BMJ7;H3BS21;J3KRH2;J3KSV1;J3QLC9;J3QQI8;J3QR68;P00738;Q0VAC5;Q6PEJ8 ABBA01016797;AC004682;AC009087;AK055872;AK314700;AMYH01007795;BC017862;BC058031;BC070299;BC107587;BC121124;BC121125;CB117006;CB134891;CH471166;DQ314870;K00422;K01763;L29394;M10935;M69197;NG_012651;NM_001126102;NM_005143;T71743;X00606;X00637;X01793 AAA52684;AAA52685;AAA52687;AAA88078;AAA88080;AAC27432;AAH17862;AAH58031;AAH70299;AAI07588;AAI21125;AAI21126;ABC40729;BAF98793;BAG51589;CAA25248;CAA25267;CAA25926;EAW59194;EAW59195;EAW59196;EAW59197;NP_001119574;NP_005134;P00738 Hs.513711;Hs.702099 1657479;1686362;1741353;1741599;1741647;1769001;1796006;2158686;5037552 D8S2279;GDB:180916;GDB:181556;GDB:181606;HP_143;RH70305;RH79153;SHGC-61149;hshp1g5 BP;HP2-ALPHA-2;HP2ALPHA2;HPA1S;MGC111141 binding peptide;haptoglobin;haptoglobin alpha(1S)-beta;haptoglobin alpha(2FS)-beta;haptoglobin, alpha polypeptide;haptoglobin, beta polypeptide;zonulin APPROVED protein-coding ENSG00000257017 5141 00772 140100;614081 REVIEWED 731782 HPD 4-hydroxyphenylpyruvate dioxygenase The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 12 12 q24-qter 120761816 120781152 - 122277433 122326517 - 1580863;1300048;6480464;6907045;7240710 7851880;17560158;15489334;14702039;12477932;12107413;11073718;10942115;9325050;8521727;8504803;21572414;18781797;21890473;21963094;21988832;23251661 3242 P32754 ABBA01020185;ABBA01020186;ABBA01020187;ABBA01020188;ABBA01020189;ABBA01020190;AC069503;AC079360;AK057510;AK290826;AMYH01004818;AMYH01004819;BC014790;BC024287;CD675915;CH471054;D31628;NG_016461;NM_001171993;NM_002150;U29895;X72389 AAC73008;AAH24287;ABM83590;ABM87048;BAA06498;BAF83515;BAG51925;CAA51082;EAW98291;EAW98292;NP_001165464;NP_002141;P32754 Hs.2899 1341011;1722835;1744459;1744461;1857832;2150262 D12S1349;G60359;GDB:455126;GDB:455130;RK1290_1291;STS-U29895 4-HPPD;4HPPD;GLOD3;HPPDASE;PPD 4-hydroxyphenylpyruvate dioxygenase;4-hydroxyphenylpyruvic acid dioxygenase;4-hydroxyphenylpyruvic acid oxidase;OTTHUMP00000240051;OTTHUMP00000240052;glyoxalase domain containing 3 APPROVED protein-coding ENSG00000158104 5147 02041 140350;276710;609695 REVIEWED 7243049 HPN-AS1 HPN antisense RNA 1 19 q13.12 35549963 35597208 - 20205591;23022100 100128675 ABBA01018731;ABBA01018732;AC020907;AK124779;AK295317;AMYH01009723;NR_024561;NR_024562 BAC85944;BAG58294 Hs.633989 1336221;1649889;2144873;5016781;5022322 D11S2560;D19S1003;D19S893;D1S3531;SHGC-67307 miscrna ENSG00000227392 47041 VALIDATED 1606204 HPDL 4-hydroxyphenylpyruvate dioxygenase-like 1 1 1 p34.1 44075922 44077724 + 45565132 45566934 + 45792545 45794347 + 6480464 16710414;15489334;12477932;22939629;21294693 84842 Q96IR7 ABBA01050883;AI808699;AK313714;AL359540;AMYH01000572;BC007293;BQ069740;CH471059;NM_032756 AAH07293;BAG36457;EAX07002;NP_116145;Q96IR7 Hs.162717 1339661 D1S2677 4-HPPD-L;GLOXD1;MGC15668;RP4-534D1.1 4-hydroxyphenylpyruvate dioxygenase-like protein;OTTHUMP00000009095;glyoxalase domain containing 1;glyoxalase domain-containing protein 1 protein-coding ENSG00000186603 28242 17509 VALIDATED 1343384 HPRT2 hypoxanthine phosphoribosyltransferase 2 3252 5158 1347588 HPRTP1 hypoxanthine phosphoribosyltransferase pseudogene 1 87146452;6089358 3253 5159 1351283 HPRTP2 hypoxanthine phosphoribosyltransferase pseudogene 2 5 5 5 p13.3 30130006 30131113 + 30284138 30285445 + 30248481 30249588 + 6089358;1675192 3254 ABBA01066706;AC114300;AMYH01014991;NG_003031 pseudo 5160 INFERRED 1342808 HPRTP3 hypoxanthine phosphoribosyltransferase pseudogene 3 11 11 q 91019614 91020185 - 93731815 93732386 - 3255 ABBA01040035;AMYH01003961;AP002795;NG_007296 pseudo 5161 INFERRED 1345593 HPRTP4 hypoxanthine phosphoribosyltransferase pseudogene 4 11 11 11 q21 91011737 91012383 - 93364160 93401371 - 93723842 93724688 - 100128522 ABBA01040035;AMYH01003961;AP002795;NG_007297 pseudo 5162 INFERRED 1343438 HPR haptoglobin-related protein This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011] 16 16 q22.1 70654626 70668646 + 72097125 72111145 + 1580863;6480464;6907045 2987228;16682745;19324878;17845074;17360487;16778136;11814582;11752456;10493829;10085035;9461571;8945641;8889549;7716520;4018023;2876426;1478675;20800603;16712791;19913121;20628086;21103663;20805508;20686565;22001757;22403646;22433445;18974867;22916037 3250 J3KTC3;P00739 ABBA01016797;AC004682;AC009087;AMYH01007795;AV698541;BM547990;CB115435;CB147217;CH471166;H93376;K03431;M10935;M13908;M69197;N55255;NG_030311;NM_020995;T71114;X01794 AAA52686;AAA88079;AAA88081;AAC27433;AAI60066;CAA25927;EAW59193;NP_066275;P00739 Hs.655361 1661940;1741599;1741647;1769001;1792974;1792976;1792978;1796006;1851053;2117955;2123973;2125248;2158686;2220268 GDB:181556;GDB:181606;HP;HP_143;PMC17875P5;PMC17875P6;PMC17875P7;RH69592;RH70305;RH77931;SHGC-60783;SHGC-61149;SHGC-9008;STS-N39323 A-259H10.2;HP Haptoglobin-related locus;haptoglobin-related protein APPROVED protein-coding ENSG00000261701 5156 00773 140210 REVIEWED 1348150 HPCAL1 hippocalcin-like 1 The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012] 2 2 p25.1 10360491 10485194 + 10443030 10567743 + 1580863;6480464 8038222;16713569;16703469;16381901;16189514;15834280;15489336;15489334;14739275;14694264;12477932;12445467;11964161;11173883;11076863;10851344;10683417;9110174;8619474;8387172;20098747;21059989;21182205;21139048;21890473;21906983 3241 C9JW46;E9PC71;H7BZC1;O75544;P37235;Q6FGY1 ABBA01015611;ABBA01015612;ABBA01015613;ABBA01015614;AC007240;AC007249;AF070616;AK000596;AK292280;AMYH01010100;AMYH01010101;AMYH01010102;BC009846;BC017028;BC017482;BI601950;BI603158;BT009835;BU145561;CH471053;CR541975;CR749837;D16227;NM_001258357;NM_001258358;NM_001258359;NM_002149;NM_134421 AAC25387;AAH09846;AAH17028;AAH17482;AAP88837;AAY15033;BAA03754;BAF84969;CAG46773;CAH18693;CAL37431;CAL37471;CAL37587;CAL37806;CAL38180;CAL38266;EAX00960;EAX00961;EAX00962;EAX00963;EAX00964;EAX00965;EAX00966;NP_001245286;NP_001245287;NP_001245288;NP_002140;NP_602293;P37235 Hs.580427;Hs.741268 1339065;1671428;1674779;1763067;2119958;2131679;2132571;2153588;5014051;5021872;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D2S1802;D2S398;D8S2278;D8S2279;G16363;L18426;RH11957;RH17383;RH69378;SHGC-146803;WI-14664;sY3084 BDR1;HLP2;VILIP-3 OTTHUMP00000115513;OTTHUMP00000115514;calcium-binding protein BDR-1;hippocalcin-like protein 1;visinin-like protein 3 APPROVED protein-coding ENSG00000115756 5145 02564 600207 REVIEWED 736886 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 q34-q35 175647955 175680186 - 175411328 175444049 - 1580863;5688759;6480464;5688766;5688768;7240710 19494278;16195422;9603077 2025296;10198228;15581601;15531523;15574495;18029348;19336370;19138967;19034772;19027726;19010907;18987618;18805827;18660489;18632593;18593902;18500342;18328086;18212353;18174234;17463062;16997128;16880406;16632868;15680906;15489334;15181076;14718596;12914529;12788907;12679466;12664592;12477932;12144871;11889207;11702189;10650939;9920098;9099873;9048936;8482380;8157731;7557451;2337593;1697582;19820419;1635910;21281786;21469975;20635443;16828555;19568269;19584167;19608733;19667156;19667157;19917058;20042636;20086108;20093479;20452482;20299379;20643784;20304053;21047993;19913121;20628086;20673868;20689807;21072165;19306095;20699658;21832049;21426412;22072156;22416177;22197745;22082586 3248 D6RA66;D6RA83;D6RHF8;E9PBZ2;E9PD69;P15428;Q12998 ABBA01070391;AC096751;AF177983;AI435471;AK058013;AK296642;AK300125;AK300524;AK300940;AK314624;AMYH01014724;BC007691;BC018986;CH471056;DC420578;DQ903072;GN344027;J05594;L76465;NG_011689;NM_000860;NM_001145816;NM_001256301;NM_001256305;NM_001256306;NM_001256307;U63296;X82460 AAA89174;AAA89175;AAB53034;AAF29493;AAH18986;ABI75347;BAG37190;BAG61916;BAG62236;BAG62569;BAH12408;CAA57843;CAY55949;EAX04734;EAX04735;EAX04736;EAX04737;NP_000851;NP_001139288;NP_001243230;NP_001243234;NP_001243235;NP_001243236;P15428 Hs.596913 1651945;1658159;1686278;1700684;1724637;2137034;2162295 D4S3150;RH103965;RH121319;SHGC-59688;SHGC-59842;SHGC-67317;STS-AA032211 15-PGDH;PGDH;PGDH1;PHOAR1;SDR36C1 15-hydroxyprostaglandin dehydrogenase;15-hydroxyprostaglandin dehydrogenase [NAD(+)];15-hydroxyprostaglandin dehydrogenase [NAD+];NAD+-dependent 15-hydroxyprostaglandin dehydrogenase;OTTHUMP00000218960;OTTHUMP00000219016;OTTHUMP00000219018;nad-dependent 15-hydroxyprostaglandin dehydrogenase;prostaglandin dehydrogenase 1;short chain dehydrogenase/reductase family 36C, member 1 APPROVED protein-coding ENSG00000164120 5154 03406 119900;259100;601688 REVIEWED 732845 HPGDS hematopoietic prostaglandin D synthase Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008] 4 4 q22.3 95438730 95483050 - 95219707 95264027 - 68838;1300048;6480464;6907045 9323136 9353279;10781097;19276290;19247692;19181746;19124506;18946232;15489334;15113825;12895599;12707014;12627223;12477932;12002745;11672424;11068878;10998423;10824118;9475419;9425264;19913121;20628086;20074808;18029348;21683347;22049022;21821144 27306 O60760;Q4W5C6 AB008830;ABBA01063619;ABBA01063620;AC096746;AC109925;AC110297;AK290075;AMYH01014403;BC020734;CB988786;CH471057;CR541662;CR541679;D82073;NG_032150;NM_014485 AAH20734;AAY40905;BAA25545;BAA96854;BAF82764;CAG46463;CAG46480;EAX06052;NP_055300;O60760 Hs.128433 2109643 PGDS_9545 GSTS;GSTS1-1;PGD2;PGDS GST class-sigma;OTTHUMP00000161599;glutathione S-transferase sigma;glutathione-dependent PGD synthase;glutathione-dependent PGD synthetase;glutathione-requiring prostaglandin D synthase;hematopoietic prostaglandin D synthase;hematopoietic prostaglandin D2 synthase;prostaglandin-H2 D-isomerase APPROVED protein-coding ENSG00000163106 17890 04001 602598 REVIEWED 732957 HPN hepsin This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 19 19 q13.12 40223250 40249315 + 35531410 35557477 + 1580863;6480464 18029348;1885621;18784072;18698500;18487557;18383840;18381435;17569629;17309599;16908524;16783571;15792801;15583422;15489334;14702039;12962630;12629351;12477932;11171558;8346233;7814421;2835076;19911255;20015050;20166135;20673210;21750652;15614436;17918732;19843851;21875933;21383634;11479199;12460890;14665873;15324701;15538223;15627507;15839837;16391794;16585186;16911458;18852137;22132769;9230195;9569208;23022100;22665141 3249 B7Z1L4;M0QZ63;M0R244;P05981 ABBA01018731;AC020907;AK091988;AK095160;AK293622;AK315655;AMYH01009723;BC025716;EU644753;M18930;NM_002151;NM_182983;X07002;X07732 AAA36013;AAH25716;ABM83045;ABM86240;ACD02430;BAG38021;BAH11550;CAA30058;CAA30558;NP_002142;NP_892028;P05981 Hs.182385 1649889;1656489;2115914;2144873;2164084;2164973;5015861;5019070;5022450;7185938 D10S16;D10S275;D19S1003;D1S3531;G44334;RH65199;SHGC-33311;STS-L16242;STS-W87423 TMPRSS1 hepsin;serine protease hepsin;serine protease hepsin catalytic chain;serine protease hepsin non-catalytic chain;transmembrane protease serine 1;transmembrane protease, serine 1 APPROVED protein-coding ENSG00000105707 5155 00801 142440 REVIEWED 1321513 HPS3 Hermansky-Pudlak syndrome 3 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] 3 3 q24 150330061 150373995 + 148847371 148891305 + 1599538;6480464 11455388 17365864;16417222;16159387;15632015;15489334;15030569;14702039;12847290;12477932;12125811;11707070;11590544;9497254;20562649;20301464;23084991 84343 G5E9V4;H7C5G2;Q969F9 ABBA01058947;AC021059;AC131209;AF375663;AK026357;AK055245;AK056575;AK291631;AK298478;AL832735;AL833878;AMYH01013570;AY033141;BC016901;BC022062;BC040359;BG618578;CH471052;NG_009847;NM_032383 AAH16901;AAH22062;AAH40359;AAK53457;AAK84131;ABM82104;ABM85286;BAB15459;BAB71221;BAF84320;BAG60689;CAD38735;EAW78885;EAW78886;EAW78887;EAW78888;NP_115759;Q969F9 Hs.558314;Hs.591311 1706560;1849047;1857745;2160274;2176521;2191383;2219810 D3S3906;HPS3__6583;MARC_21131-21132:1046275169:1;RH46381;SHGC-77441;SHGC-77445;SHGC-81259 DKFZp686F0413;FLJ22704;SUTAL Hermansky-Pudlak syndrome 3 protein;OTTHUMP00000215796;OTTHUMP00000215797 APPROVED protein-coding ENSG00000163755 15597 05835 606118;614072 REVIEWED 1605436 HPS1 Hermansky-Pudlak syndrome 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008] 10 10 q23.1-q23.3 100165946 100196694 - 100175955 100206704 - 1625056;6480464;7240710 8896559 12663659;10625677;11836498;19320733;19023099;18463683;17975119;17365864;16431308;16417222;16020891;12847290;12756248;12477932;12442288;12125811;10971344;10798370;9579545;9497254;9182823;8541858;7573033;16385451;19665357;19865097;20048159;20514622;17207965;20301464;20662851;21163940;21833017;21890473;22623531;12923531;23251661 3257 H0Y4K4;Q5TAA8;Q658M9;Q92902 ABBA01021777;ABBA01021778;AF450133;AK295821;AL139243;AL702912;AL833734;AMYH01002983;BC000175;BC002514;BC127087;BF447504;BI518436;BI966698;BQ100915;CH471066;NG_009646;NM_000195;NM_182639;U65676;U79136;U96721 AAB17869;AAB70662;AAC52074;AAH00175;AAI66631;AAL50684;ADQ32329;BAG58638;CAH56230;EAW49877;EAW49878;EAW49879;EAW49880;EAW49881;EAW49882;EAW49883;NP_000186;NP_872577;Q92902 Hs.404568 1678809;1681444;2150480 RH11263;RH47149;RH80341 HPS;MGC5277 Hermansky-Pudlak syndrome 1 protein;Hermansky-Pudlak syndrome type 1;OTTHUMP00000020244;OTTHUMP00000020245;OTTHUMP00000020246 APPROVED protein-coding ENSG00000107521 5163 05403 203300;604982 REVIEWED 1348163 HPT hypoparathyroidism 7240710 3258 1340800;7186795 DXS984 5165 1350321 HPV18I1 human papilloma virus (type 18) integration site 1 7240710 3028716 3260 5166 167959 1347895 HPV18I2 human papillomavirus (type 18) integration site 2 7240710 3033295 3261 5167 167960 1347100 HPV6AI1 human papillomavirus (type 6a) integration site 1 q21.1 8118820 3259 X77607 miscrna 5168 604461 1354452 HPVC1 human papillomavirus (type 18) E5 central sequence-like 1 7 7 7 p11.2 54329406 54330603 - 54268917 54270114 - 54268917 54270114 - 6480464 7581372 3262 AACC02000089;ABBA01011839;AC092848;AMYH01017256;CH236957;NR_004422;X85042 Hs.742598 1770343 PE5L-LSB HPV18E5L;PE5L miscrna 5169 600762 VALIDATED 731296 HPRT1 hypoxanthine phosphoribosyltransferase 1 The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009] X X q26.1 133421923 133462362 + 133594175 133634698 + 1580863;1300048;5135488;5135485;5135035;6480464;6907045;7240710 20005278;3043317;6327016 7107641;6930669;6853716;6853490;6706936;6572373;6343377;6309910;6204922;6087154;3921964;3909940;3527873;3384338;3358423;3320967;3265398;3198771;3148064;3023844;3008106;2928313;2910902;2909537;2896620;2835825;2760209;2738157;2358296;2347587;2341149;2246854;2071157;2018042;1937471;1840476;6300847;9521733;10360366;8044844;9824441;8643611;18835879;18779430;18600559;18600506;18494542;18409516;18407966;18316217;18288319;17934765;17700363;17697207;17628775;17454734;17353931;17027311;16951156;16928426;16458330;16355393;16240158;16216473;16189514;16138897;15990111;15987524;15862284;15862283;15779006;15601998;15571224;15571223;15571222;15571220;15491638;15489334;15277709;15204312;15178494;15146465;14767555;12874812;12616531;12477932;12376523;12175903;11891689;11714443;11668636;11591653;11434773;11219770;10338013;9003484;8524221;8485579;7627191;1551676;1487231;1301916;14499622;19060904;19342420;19672249;19706768;19995283;20038437;20045992;20544510;20981450;20544509;20544511;18029348;20301328;19527031;22863883;21305049;21486037;20536392;16196087;21780909;23348497;22939629;22331909;22360420;19016344;21963094;23000965;18781797;20639865;21139048;21890473;21906983;21987572;22132982;22132984;22132986;22042773;22318606;21145461;22880027;22053931 3251 P00492 ABBA01042443;ABBA01042444;ABBA01042445;ABBA01042446;ABBA01042447;ABBA01042448;AC004383;AK313435;AMYH01022993;AY780550;BC000578;BT019350;CH471107;CR407645;L29382;L29383;M12452;M24772;M26434;M31642;NG_012329;NM_000194;S60300;S79313 AAA36012;AAA52690;AAA52691;AAB21289;AAB59391;AAB59392;AAC60591;AAH00578;AAV31777;AAV38157;ABM86033;ABM86035;ABW03456;ABW03767;BAG36226;CAG28573;EAX11760;EAX11761;NP_000185;P00492 Hs.412707 1654666;1694084;1694284;1701884;1702476;1741533;1741841;1743769;1768558;1787966;1787968;1792106;1792650;1792652;1793452;1794446;1794448;1794664;1794666;1795162;1796004;2113534;5022853;5119575 AL035130;DXS10107A8;G42837;G67193;G67213;GDB:177372;GDB:181411;GDB:185506;GDB:192504;GDB:371809;HPRT;HPRT1_1621;HPRTB_-_Allele_11.2;PMC137113P1;PMC156144P2;PMC156144P3;PMC22513P1;PMC313988P1;PMC313988P2;PMC344179P1;PMC344179P2;PMC99939P1;STS-N33128;STS-V00530 HGPRT;HPRT HGPRTase;OTTHUMP00000024061;hypoxanthine guanine phosphoribosyl transferase;hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome);hypoxanthine-guanine phosphoribosyltransferase APPROVED protein-coding ENSG00000165704 5157 02388 300322;300323;308000 REVIEWED 1350210 HPYR1 Helicobacter pylori responsive 1 (non-protein coding) 8 8 8 q24.22 129747549 129748530 - 133572745 133573726 - 133572745 133573726 - 11598072 93668 ABBA01014207;AC018540;AF200341;AMYH01019036;NR_026684 Hs.545218 2146521 G32165 HPRG1;LINC00027;NCRNA00027 miscrna ENSG00000253521 16071 PREDICTED 1317629 HPS4 Hermansky-Pudlak syndrome 4 This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 22 22 cen-q12.3 25177446 25209820 - 26846848 26879829 - 1599546;1580863;6480464 12664304 12663659;11836498;12756248;18463683;17365864;16431308;15489334;15461802;14702039;12847290;12529303;12477932;11258795;10591208;8889548;20936779;20048159;20301464;21833017;15108212;15941405;16420244;19684574 89781 A8K2E6;E5RG08;F1LLU8;F8VYA9;F8WC53;Q6P1K3;Q9NQG7 AB051454;ABBA01055200;AK054717;AK057648;AK095406;AK097529;AK097886;AK123691;AK290211;AL365512;AL713795;AMYH01012684;AY043416;BC028625;BC035614;BC050285;BC065030;BM975247;BQ185676;CH471095;CR456392;NG_009763;NM_022081;NM_152841;NR_073135;NR_073136;Z99714 AAH65030;AAK95330;BAB33337;BAB71540;BAF82900;BAG53049;CAB97208;CAD28549;CAG30278;CAI17880;CAK54398;CAK54697;CAQ09361;EAW59717;EAW59718;EAW59719;EAW59720;NP_071364;NP_690054;Q9NQG7 Hs.474436 1653086;1653088;1674290;1674978;1681606;1850084;2109397;2140224;2177427;5022578 A005L38;D1S1423;D22S300;D22S560;G20318;HPS4__6584;NIB1482;RH11272;WI-11744;WI-14276 KIAA1667;LE;bK1048E9.4;bK1048E9.5 Hermansky-Pudlak syndrome 4 protein;OTTHUMP00000198859;OTTHUMP00000198860;OTTHUMP00000199897;OTTHUMP00000226125;light-ear protein homolog APPROVED protein-coding ENSG00000100099 15844 05983 606682;614073 REVIEWED 737150 HPX hemopexin This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009] 11 11 p15.5-p15.4 6409017 6418769 - 6452268 6462254 - 1580863;6480464 21193411;3855550;14718574;18044975;17968708;17636883;17229156;17185359;16740002;16335952;16199891;16079987;16014037;15697213;15697212;15558018;15084671;14760718;12675843;12477932;12042069;11752456;10981817;10737728;10443938;8855948;8647924;8612795;8474687;8463269;8175675;6510521;6371807;4105917;3661561;3455011;3372522;3220477;3036819;2989777;2842511;2833500;2735186;620056;19913121;20628086;19863188;19966041;20149159;20610401;22993068;21404362;19433579;22772444;22579751 3263 P02790;Q9BS19 ABBA01028668;ABBA01028669;AC084337;AK303758;AK313648;AMYH01003366;AV655383;BC005395;CH471064;CS185535;J03048;M36796;M36798;M36799;M36800;M36801;M36802;M36803;NM_000613;X02537 AAA52704;AAA58678;AAH05395;ADZ15667;BAG36404;BAH14040;CAA26382;CAJ42716;EAW68718;EAW68719;EAW68720;EAW68721;NP_000604;P02790 Hs.426485 1742519;2125005;2125007;2144809;2182956 D11S4353;D11S4588;GDB:197845;HPX;RH11711 FLJ56652;HX OTTHUMP00000164583;beta-1B-glycoprotein;hemopexin APPROVED protein-coding ENSG00000110169 5171 00793 142290 REVIEWED 736250 HPSE heparanase Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 4 4 q21.3 84435492 84475330 - 84213614 84256306 - 6480464;6484113 18609704;16093249;22363633;20403028;10395325;10446189;19437318;19406828;19401035;19305494;19096032;18812315;18809970;18798279;18773863;18704599;18662687;18647407;18646256;18618498;18557927;18545691;18512775;18487013;18450756;18329709;18305555;18288398;18217145;18212251;18167611;18064313;17989358;17634531;17611567;17524042;17519955;17481627;17467664;17437011;17419711;17339423;17284253;17261577;17217623;17208203;17141400;17095861;17051139;16982797;16890383;16867222;16855356;16826429;16790442;16709798;16514606;16429446;16391819;16303743;16288472;16263699;16217746;16112651;16097072;14573609;14522979;12927802;12904690;12837765;12824922;12746471;12713442;12679316;12509917;12477932;12441129;12219030;12213822;12097647;12065771;12029075;12027584;11973358;11798780;11779847;11759110;11547900;11406531;11351242;11123890;10940554;10764835;10405343;10395326;9668050;8125298;15264223;16007175;15983219;15848168;15760902;15737842;15728796;15682491;15659389;15645118;15625607;15610235;15489334;15471949;15368349;15334672;15292202;15144715;15109255;15100255;15040016;15034597;14989983;14967027;14769819;14676122;14633698;14702039;22331282;20660327;19835469;21257720;21483695;19715595;19749739;19802384;19916174;19955948;19956890;20007507;20075159;20097882;20164500;20339231;14558943;15475937;15709168;15837740;16879396;17715045;18058084;18246800;18390199;19180921;23251556;18357711;20388348;20653782;20619346;20798248;11027606;20578081;20434010;20309870;20634491;21461610;21076620;21131364;16759020;19157148;21385059;22952874;23048032;22575501;19452723;21415391;22719918;22956610;21490396;21464728;12773484;15044433;15126626;16452201;21757697;21364956;21600934;22227299;22488243;21424539;21965756;21029368;21505182;22102278;21153652;22005029;22009724;22194600;20193112;21780097;22001963;22133010;21706269;22260074;22276173;21671176;23313782;23430739;22692572;23162016;22020734;23288725;22682139;23504321;23504323;23028487 10855 D6RAQ1;D6RHG4;E9PHC3;Q9Y251 ABBA01063463;ABBA01063464;AC114781;AF084467;AF144325;AF152376;AF155510;AF165154;AK075400;AK090910;AK222986;AM419200;AMYH01014359;AW293069;AY948074;BC029464;BC051321;CH471057;CQ840768;CQ840860;CQ971645;FJ517659;FJ517660;GQ337901;GQ337902;HM187643;NG_028037;NM_001098540;NM_001166498;NM_001199830;NM_006665 AAD41342;AAD45379;AAD45669;AAD54516;AAD54941;AAH51321;AAX47106;ACT98237;ACT98238;ADK11282;BAD96706;BAG52128;CAH05691;CAH05695;CAI40110;CAL91960;EAX05932;EAX05933;NP_001092010;NP_001159970;NP_001186759;NP_006656;Q9Y251 Hs.44227 1338293;1679153;1688498;1774003;2117900;2166041;2186271;5022578 D1S1423;D4S2824;D4S3088;D4S395;G16722;RH94313;SHGC-60112;SHGC4-751 HPA;HPA1;HPR1;HPSE1;HSE1 OTTHUMP00000160979;OTTHUMP00000160980;OTTHUMP00000219799;OTTHUMP00000219801;OTTHUMP00000219802;endo-glucoronidase;heparanase;heparanase exon 9&10 deletion;heparanase exon10-deletion;heparanase-1;hpa1 APPROVED protein-coding ENSG00000173083 5164 05286 604724 REVIEWED 1317455 HPSE2 heparanase 2 This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 10 10 q23-q24 100208867 100985609 - 100216834 100995632 - 1580863;7240710 11027606;18058084;17989358;16879396;15837740;15709168;15475937;15164054;14702039;12477932;20031192;20560209;20560210;16385451;18528290;18617780;19955924;20182872;20379614;10360399;10458906;20605132;9199567;21308479;21332471;21450525;21980299;23251661 60495 Q2M1H9;Q8WWQ2 ABBA01021773;ABBA01021774;ABBA01021775;ABBA01021776;ABBA01063253;ABBA01063254;ABBA01063255;ABBA01063256;ABBA01063257;ABBA01063258;ABBA01063259;ABBA01063260;ABBA01063261;ABBA01063262;AF282885;AF282886;AF282887;AJ299719;AJ299720;AK021746;AK094037;AK126010;AK314759;AL139243;AL356220;AL356268;AL360075;AL365210;AL391260;AL445251;AL590036;AMYH01002983;AMYH01002984;AMYH01002985;AMYH01002986;AMYH01002987;AMYH01002988;AMYH01002989;BC112356;CH471066;NG_023416;NM_001166244;NM_001166245;NM_001166246;NM_021828 AAG23421;AAG23422;AAG23423;AAI12357;BAG37297;BAG52801;CAC82491;CAC82492;EAW49872;EAW49873;EAW49874;NP_001159716;NP_001159717;NP_001159718;NP_068600;Q8WWQ2 Hs.500750;Hs.676960;Hs.689544 1336483;1339146;1706694;1709034;1710482;1755547;1760571;1763583;1763649;1781964;1921302;2112528;2112530;2168885;5015861;5022425;5022651;7185938 D10S16;D10S1726;D10S198;D10S2435;D10S2436;D11S2921;D22S296;REN31474;SHGC-141878;SHGC-142401;SHGC-144040;SHGC-14454;SHGC-147281;SHGC-147334;SHGC-79588;SHGC-82849;SHGC-86258 FLJ11684;FLJ44022;HPA2;HPR2;MGC133234;UFS;UFS1 OTTHUMP00000020250;OTTHUMP00000020251;OTTHUMP00000020252;Ochoa syndrome;heparanase 3;heparanase-2;heparanase-like protein;inactive heparanase-2 APPROVED protein-coding 18374 13669 236730;613469 REVIEWED 1323623 HPS5 Hermansky-Pudlak syndrome 5 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 11 p14 18432440 18475937 - 18256793 18300297 - 18300217 18343721 - 6480464 15030569;17365864;17301833;15489334;15296495;14702039;12548288;12477932;12168954;10231032;10094488;21124955;20301464;21833017;21906983;21886157;21963094 11234 F5GWM5;F5H6Q8;G3V159;Q9UPZ3 AA886415;AB023234;ABBA01061058;AC084117;AC107948;AF534400;AF534401;AF534402;AJ131721;AK024320;AK291663;AK292436;AMYH01003420;BC033640;CH471064;NG_008877;NM_007216;NM_181507;NM_181508 AAH33640;AAO25962;AAO25963;AAO25964;BAA76861;BAF84352;BAF85125;BAG51290;CAB38232;EAW68402;EAW68403;EAW68404;EAW68405;EAW68406;EAW68407;NP_009147;NP_852608;NP_852609;Q9UPZ3 Hs.437599 1779582;2113972;2146562;2178406;2181319;2219812 AB062963;D11S4020;HPS5__6585;SHGC-153557;SHGC-30910;STS-W46391 AIBP63;KIAA1017 Hermansky-Pudlak syndrome 5 protein;OTTHUMP00000233766;OTTHUMP00000233767;OTTHUMP00000236630;alpha integrin binding protein 63;alpha-integrin-binding protein 63;ruby-eye protein 2 homolog APPROVED protein-coding ENSG00000110756 17022 07395 607521;614074 REVIEWED 1344464 HRASLS2 HRAS-like suppressor 2 11 11 11 q12.3 60644328 60654940 - 63076818 63087431 - 63320242 63330855 - 6480464 18163183;14702039;19615464;19913121;20628086;22605381 54979 Q9NWW9 AB453251;ABBA01003255;AK000563;AMYH01003694;AP001591;CH471076;NM_017878 AAI52863;BAA91256;BAH22445;EAW74157;NP_060348;Q9NWW9 Hs.272805 FLJ20556;PLA1/2-2 HRAS-like suppressor 2;OTTHUMP00000237068 protein-coding ENSG00000133328 17824 13670 613866 PROVISIONAL 2301113 HRCT1 histidine rich carboxyl terminus 1 9 9 9 p13.3 35839732 35840681 + 35896189 35897138 + 35906189 35907138 + 6480464 12975309 646962 Q6UXD1 ABBA01064979;AL135841;AMYH01019347;AY358408;NM_001039792 AAQ88774;NP_001034881;Q6UXD1 Hs.208081 LGLL338;PRO537;RP11-327L3.6;UNQ338 OTTHUMP00000205161;histidine-rich carboxyl terminus protein 1 protein-coding ENSG00000196196 33872 VALIDATED 1346832 HRD hypoparathyroidism, growth and mental retardation, and dysmorphism 7240710 9634513 3271 5179 241410;244460 1347712 HPS6 Hermansky-Pudlak syndrome 6 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] 10 10 10 q24.32 97566095 97568741 + 103815137 103817783 + 103825124 103827795 + 632833;6480464 12548288 15489334;15030569;14702039;12477932;16169070;16385451;19843503;20301464;21900206;21987572;21139048;21890473;21906983;22203954;21963094;21988832;22505724 79803 Q86YV9 ABBA01063173;AF536238;AK026154;AL500527;AMYH01003013;BC009258;BC011594;BC014993;BC064917;BC080564;BI761726;CH471066;NG_012029;NM_024747 AAH11594;AAH14993;AAO25965;BAB15378;EAW49725;EAW49726;NP_079023;Q86YV9 Hs.125133 1664509;1776369;2115626;2183684 A002B16;A008M26;D10S1622;SGC31936 FLJ22501;MGC20522;RP11-302K17.1 Hermansky-Pudlak syndrome 6 protein;Hermansky-Pudlak syndrome-6 protein (HPS6);OTTHUMP00000020357;ruby-eye protein homolog APPROVED protein-coding ENSG00000166189 18817 08471 607522;614075 REVIEWED 1348901 HRES1 HTLV-1 related endogenous sequence 1783388 3272 P13985 NM_001007238;X16660 1674109;1778464 RH45658;STS-X16660 5180 143025 1319850 HRASLS HRAS-like suppressor 3 3 3 q29 191374190 191403914 + 194441612 194471338 + 192958917 192988644 + 6480464 12477932;11474175;10542256;9771974;20837014;21832049;21880860 57110 H7C3Y1;Q86WS9;Q9HDD0 AB030816;AB510981;ABBA01058291;AC092966;AC105057;AMYH01013771;AY251533;BC048095;BX098792;CH471052;NM_020386 AAH48095;AAP20056;BAB08110;BAI63210;EAW78078;EAW78079;NP_065119;Q9HDD0 Hs.36761 1753195;5022763 HRASLS;SHGC-110035 A-C1;H-REV107;HRASLS1;HRSL1;HSD28 H-REV107 protein-related protein;HRAS-like suppressor;HRAS-like suppressor 1;OTTHUMP00000209192;phospholipase A;phospholipid-metabolizing enzyme A-C1 protein-coding ENSG00000127252 14922 07577 606487 VALIDATED 1344984 HR hair growth associated This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by multiple regulatory ORFs that exist upstream of the primary ORF. Mutations in one of these upstream ORFs, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 8 8 p21.2 22027877 22043975 - 21971932 21988565 - 1599575;1599576;1580863;6480464;7240710 9736769;9856480 9445480;19122663;18709303;18164595;17958788;17869066;17609203;17372750;16344560;16269453;15900300;15489334;14702039;12477932;12406339;12271294;11966690;11410842;10469319;10205263;10051399;9758627;9463324;8889548;8357006;11641275;20512927;11748221;12403844;12847098;19540091;19747330;19819974;19897589;20087431;20055871;20163456;20211142;20814945;20659777;21272494;21919222;21982945;22155146;23251661 55806 E5RK80;O43593 ABBA01005504;ABBA01005505;AC105206;AF039196;AJ277165;AK098053;AK308839;AL833253;AMYH01018565;AW291630;BC008946;BC067128;BM982749;BX109092;CH471080;DA114279;DA326731;NG_008166;NM_005144;NM_018411 AAC32258;AAH67128;CAB86602;EAW63716;EAW63717;EAW63718;NP_005135;NP_060881;O43593 Hs.272367 1334517;1671410;1679802;1739947;2142214 D17S1776;D5S1392;HSC06D102;RH12774;RH92812 ALUNC;AU;FLJ98880;HSA277165;MUHH;MUHH1 OTTHUMP00000122609;OTTHUMP00000224807;hairless homolog;protein hairless APPROVED protein-coding ENSG00000168453 5172 03808 146550;203655;209500;602302 REVIEWED 1606473 HRASLS5 HRAS-like suppressor family, member 5 11 11 11 q13.2 60552972 60582768 - 62987385 63015242 - 63228876 63258680 - 6480464 19000777;17158102;14702039;12477932;17207965;21832049 117245 B4DY88;F5H4Q3;H0YGT7;H7BYL7;Q8NE88;Q96KN8 AB298804;ABBA01003254;AI208471;AJ416558;AK055392;AK302312;AMYH01003693;AP000484;AP001591;BC034222;CH471076;DB460110;NM_001146728;NM_001146729;NM_054108 AAH34222;ADQ32507;BAG63650;BAH08633;CAC94942;EAW74149;EAW74150;NP_001140200;NP_001140201;NP_473449;Q96KN8 Hs.410316 1721961;1857975;2133538 A005E24;G59866;WIAF-2220 HRLP5;HRSL5;RLP1;iNAT Ca(2+)-independent N-acyltransferase;H-rev107-like protein 5;HRAS-like suppressor 5;OTTHUMP00000236913;OTTHUMP00000236914;OTTHUMP00000236915;calcium-independent phosphatidylethanolamine N-acyltransferase;lecithin-retinol acyltransferase (LRAT)-like protein-1 protein-coding ENSG00000168004 24978 13672 611474 VALIDATED 735725 HRH2 histamine receptor H2 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 5 5 q35.2 175042318 175044164 + 175085040 175113245 + 1580863;6480464 9725260;1714721;19193342;19156168;19026982;18802338;18691388;18617631;18258331;17627982;17347323;16888049;16203768;15961859;15953854;15928843;15848191;15820830;15191551;15167968;15086532;14523557;12824943;12757445;12680587;12477932;12429384;11898002;11728449;11641433;11603849;11466390;10837353;10371214;9374694;9311023;8817552;7794271;7755641;7575521;7511596;22615049;20012462;18240029;20237496;12036966;22720301;19913121;20602615;20628086;21212009;21705320;21683759;22169095;22975449 3274 P25021 AB023486;AB023487;AB041384;AB451483;ABBA01043989;AC010219;AMYH01015839;AY136744;BC054510;CF147823;CH471062;D49783;M64799;NM_001131055;NM_022304;X98133 AAA58647;AAH54510;AAN01270;BAA08618;BAA84279;BAA94469;BAG70297;CAA66832;EAW61369;NP_001124527;NP_071640;P25021 Hs.247885 1796010;1857447 HRH2_1005;RH71388 H2R HH2R;OTTHUMP00000161242;OTTHUMP00000161243;gastric receptor 1;gastric receptor I;histamine H2 receptor;histamine receptor h 2 APPROVED protein-coding ENSG00000113749 5183 00816 142703 REVIEWED 1343095 HRC histidine rich calcium binding protein This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008] 19 19 q13.3 54346267 54350493 - 49654455 49658681 - 1580863;6480464 2037293;18029348;18617481;17526652;15489334;15191886;15082771;12543931;12488461;12480542;12477932;11741309;11504710;10462052;2498310;21628590 3270 M0QY84;M0QZ43;P23327 ABBA01032938;AC008891;AK300706;AMYH01009911;BC069795;BC069802;BC094691;BC112355;CH471177;FJ000070;M60052;NM_002152 AAA88071;AAH69795;AAH69802;AAH94691;AAI12356;ACH88003;BAG62385;EAW52458;EAW52459;NP_002143;P23327 Hs.436885 1741679;1741681;2132361;5119805 GDB:181998;GDB:181999;GDB:182001;RH71439 MGC133236 sarcoplasmic reticulum histidine-rich calcium-binding protein APPROVED protein-coding ENSG00000130528 5178 00818 142705 REVIEWED 1349514 HRMT1L5 HMT1 hnRNP methyltransferase-like 5 (S. cerevisiae) 415048 31728 730881 HRAS Harvey rat sarcoma viral oncogene homolog This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.5 522242 525550 - 532242 535550 - 1358733;1580863;2314833;2314834;2314836;2314838;2314840;2314841;2314832;6480464;5686410;6484113;6907045;7240710 8098541;19762144;19652463;19303097;14984964;19283661;18514235;19855393;22177953 18383861;18355852;18330889;18325324;18310288;18296105;18284919;18247425;18176964;18094044;18077377;18048363;18042262;18039947;18021740;17979197;17974970;17943694;17912430;17767136;17712732;17699159;17638918;17635919;17601930;17518771;17488404;17428306;17412879;17388810;17374253;17324647;17264303;17255356;17237388;17230191;17210246;17196792;17164262;17096025;17094109;17056636;18425390;17018607;16969868;16945398;9219684;11520933;9020890;10848592;10842192;7972015;8493579;9069260;9690470;9880516;19628422;19487299;19443408;19406145;19369630;19351817;19347028;19326463;19289583;19276157;19254697;19240121;19218240;19206176;19160018;19146951;19140325;19133693;19107910;19107228;19101897;19089619;19075190;19064572;19048123;19035362;19029954;19021766;18922970;18790720;18783589;18771652;18769120;18757346;18677112;18676755;18660489;18655729;18641685;18621636;18577512;18555006;18485440;18465119;18454158;22427690;22490849;16923573;16890591;16881968;16857742;16849642;16831126;16806262;16774944;16761621;16760302;16738062;16717102;16645632;16644864;16598313;16598312;16573741;16569214;16552541;16532025;16531227;16518851;16518842;16488657;16436381;16434492;16384911;16356174;16329078;16286246;16268778;16268414;16264231;16187291;16174078;16170316;16170018;16081426;16007212;16005186;16000296;15980150;15963850;15950068;15940260;15855817;15831492;15816642;15784896;15761501;15757891;15721486;15705808;15702478;15697248;15684418;15677464;15638373;15597105;15528212;15496409;15489334;15320975;15211515;15202051;15187129;15098441;15031297;15031288;14767509;14737103;14729607;14724641;14693748;14688016;14662018;14576295;14500341;12970366;12915131;11335720;11303621;11257115;11156605;11136978;11097227;11022048;10998413;10989457;10922060;10891505;10862698;10848576;10783161;10677502;10574788;10545207;10514505;10504264;10490827;10485711;10369681;10212255;9699522;9674433;9582122;9525745;9488663;9235916;9150145;9144171;9113989;9099670;9038168;8939933;8911690;8753867;8663024;8628317;8626715;8621645;8607982;8554611;8530446;8280380;8142349;8137421;8035810;7969158;7916576;7862125;7744247;7730360;7706312;7628625;7177195;6866079;6844927;6616621;6587382;6312329;6308640;6298635;6290897;6098458;6087347;6086315;3932274;3856237;3670300;3476115;3295562;3276402;3131765;3109943;3102434;3088563;3034404;3011420;2999610;2998510;2991860;2833817;2661017;2654810;12878090;12874025;12867418;12838617;12750467;12748287;12740440;12732644;12727991;12717016;12695509;12668284;12628188;12620389;12589428;12569357;12540507;12477932;12379659;12135390;12134164;12115522;12034322;11980706;11977185;11948427;11934900;11920220;11904419;11880369;11788888;11744690;11739523;11709720;11695563;11695562;11560935;11525649;11487538;11352655;2476675;2448879;2217184;2196171;2121270;1970154;1924354;1899707;1549493;1459726;9344703;9269777;16436505;11958689;10748182;9154803;7809086;11389730;16803888;14724584;14654780;10882715;9523700;10402467;15854902;11786539;22266936;21768877;8665852;22188534;10334923;12581858;15469846;15664191;9516482;8637706;7689150;11585923;8307946;7523381;21473856;21211511;20425820;20491778;21281602;21388064;10712923;11709168;11857081;14622581;15451670;15688026;16301319;16316996;16810318;17260967;17380122;17533377;17540175;19062714;19295453;19420344;19438459;19494114;19543317;19596959;19638574;19638615;19681119;19723872;19752775;19787260;19787272;19802010;19802012;19815050;19849697;19855428;19888426;19890398;19936293;19966300;20042089;20046837;20108024;20147967;20150643;20184776;20354187;20406971;20437058;20526288;2122974;8332187;8332195;9054499;9069267;9261098;9297626;9765203;20583607;21115922;20375073;20392691;20188103;20936779;20038817;20479006;20824703;20860430;21072204;20173673;20871217;20012784;20828432;20503341;20579853;20720444;20937837;20413844;20489206;20515613;20569235;20581865;20581871;20729618;20676142;20301680;21330833;21480388;18683737;21167132;20848283;21080251;22712795;21264513;21303778;22800643;22982396;22865907;21411223;21403836;21503581;21524920;21120662;21438134;21221763;21336946;21782855;23548900;22926243;23129805;22367918;20865400;21930707;21945529;11205744;21850009;22080568;22199277;22214007;21725518;21122380;20584693;21808062;21825040;19139860;21771097;21900206;18724893;21607592;22894707;23063714;21826673;21834037;21931711;21943101;22045063;22209037;22433386;22589270;22605333;22294102;21665306;21841825;22096025;22098123;22172840;22179043;22207524;22223432;22298595;22431868;22261753;20655225;22318606;22494971;22499344;22584058;22488832;22495892;22315970;22798674;22826122;22920169;22939629;23028055;21041410;23583409;22909976;23317213;23496764;21988832;23264394;23240926;23487764;23150177;23396970;23459937;22618666;23009572;23096709;23096712;23512829;23324341;22317973;22573884;22683711;22707223;15824104;17940286;19013323;22324744;22325215;22417847;22796164 3265 P01112;Q96T27 AB451336;AB451485;ABBA01015190;AC137894;AF375987;AF493916;AJ437024;AMYH01003286;BC006499;BC095471;BM801632;BQ574535;BQ674260;BT019421;CH471158;CR536579;CR542271;CS566142;DN990077;EF015887;HD032931;J00277;K00654;M17232;M19990;M25876;M30539;NG_007666;NM_001130442;NM_005343;NM_176795;X01227;X16438 AAA35683;AAA35685;AAA35687;AAA36557;AAA52693;AAB02605;AAH06499;AAH95471;AAK56963;AAM12630;AAV38228;ABI97389;BAG70150;BAG70299;CAA25624;CAA34461;CAD24594;CAG38816;CAG47067;CAN37622;CBV35641;EAX02337;EAX02338;EAX02339;EAX02340;EAX02341;NP_001123914;NP_005334;NP_789765;P01112 Hs.37003 1686214;1693542;1741013;1741057;1741059;1741961;1757861;1757863;1792516;1792518;1794638;2177568;2177958 G29883;GDB:177373;GDB:177542;GDB:177543;GDB:187026;HRAS;PMC152554P1;PMC152554P2;PMC33481P1;RH75826;SHGC-146715;SHGC-146716;SHGC-58456 C-BAS/HAS;C-H-RAS;C-HA-RAS1;CTLO;H-RASIDX;HAMSV;HRAS1;K-RAS;N-RAS;RASH1 GTP- and GDP-binding peptide B;GTPase HRas;H-Ras-1;Ha-Ras1 proto-oncoprotein;OTTHUMP00000162769;OTTHUMP00000166053;OTTHUMP00000166055;OTTHUMP00000166056;Ras family small GTP binding protein H-Ras;c-has/bas p21 protein;c-ras-Ki-2 activated oncogene;ha-Ras;p19 H-RasIDX protein;p21ras;transformation gene: oncogene HAMSV;transforming protein p21;v-Ha-ras Harvey rat sarcoma viral oncogene homolog APPROVED protein-coding ENSG00000174775 5173 01813 109800;162900;163200;188470;190020;218040 REVIEWED 736085 HRH1 histamine receptor H1 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene was thought to be intronless until recently. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 3 3 p25 11153779 11279939 + 11178779 11304939 + 1580863;6480464 7925364;10818238;8280179;19443731;21697825;19193342;19156168;18814859;18682391;18548114;18511496;18498711;18446005;18366640;18345497;18258331;17637176;17627982;17547532;17517105;17243823;17122961;16888049;16760260;16705383;16547808;16491014;16484687;16408006;16344560;16027157;15953854;15928843;15928828;15820830;15542600;15342556;15328002;12757445;12755404;12680587;12477932;12429384;12218662;11994709;11898002;11603849;10973974;10569698;9794809;9311023;8666296;8590995;8045566;8003029;2891264;2886904;2670975;18240029;19271144;19913013;20237496;18029348;20800603;18577758;16754659;19913121;20602615;20628086;21255012;23132961;21730054;21686228;22169095;21433074;21937795;23000965;23382691 3269 C9J2E6;P35367 AB041380;ABBA01025226;ABBA01025227;ABBA01025228;ABBA01025229;AC083855;AF026261;AF420434;AJ000742;AK289412;AK292157;AK312879;AMYH01012974;AMYH01012975;AMYH01012976;AY136743;BC060802;BM905371;BP366267;CH471055;D14436;D28481;DA372691;DB073635;DC300229;NM_000861;NM_001098211;NM_001098212;NM_001098213;U37761;X76786;Z34897 AAB95156;AAD14833;AAH60802;AAN01269;BAA03319;BAA05840;BAA94465;BAF82101;BAF84846;BAG35729;CAA04289;CAA54182;CAA84380;EAW64092;NP_000852;NP_001091681;NP_001091682;NP_001091683;P35367 Hs.1570 1647565;1678993;1739567;1758325;1758347;1760151;1796008;2123862;2136222;2136298;2181490;5016675;5022450 D10S275;D3S3138;D3S3145;D3S3461;D3S4194;HRH1_1003;RH36646;RH79740;SHGC-132075;SHGC-148056;SHGC-148108;SHGC-76733;WI-15608 H1-R;hisH1 H1R;HH1R;OTTHUMP00000160133;OTTHUMP00000207582;OTTHUMP00000207583;OTTHUMP00000209395;histamine H(1) receptor;histamine H1 receptor;histamine receptor h 1;histamine receptor, subclass H1 APPROVED protein-coding ENSG00000196639 5182 02544 600167 REVIEWED 1351385 HRPT1 hyperparathyroidism 1 7240710 3278 5190 1603472 HRNR hornerin 1 1 1 q21.3 125299240 125308530 - 150451182 150463293 - 152184558 152196669 - 6480464 19020553;16710414;15507446;17353931;21145461;21319273;17643375;19601998;22727333;23314748;21282207;21139048;21628590;22268729 388697 Q5DT20;Q5W8V9;Q86YZ3 AB104446;AB180729;ABBA01049412;AL589986;AMYH01001396;AY396741;BR000036;NM_001009931;XM_003960263 AAR91619;BAC57496;BAD67177;FAA00004;NP_001009931;Q86YZ3;XP_003960312 Hs.490162 1853347 AL009877 FLG3;S100A16;S100a18 OTTHUMP00000014118;filaggrin family member 3;hornerin;intermediate filament-associated protein protein-coding ENSG00000197915 20846 17114 VALIDATED 6481058 HS1BP3-IT1 HS1BP3 intronic transcript 1 (non-protein coding) 100874343 AC012065 miscrna 41474 732356 HRH3 histamine receptor H3 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008] 20 20 q13.33 60223421 60228718 - 60790017 60795323 - 1580863;1626428;1626432;1626433;1626431;1626405;1626416;1626418;1626421;1626426;1626408;1626409;1626425;6480464 15680274;15319804;15076218;15381834;17189541;17169356;17350523;17276409;16137576;11684344;9050021;16671478 17627982;10347254;19413576;19413572;19193342;19156168;18996102;18802338;18564330;18345506;17561422;16565470;15665857;15489334;15191551;12971961;12477932;12069903;11956964;11780052;11752397;11284713;11118334;10637648;9670104;9311023;15597144;20602615;18240029;19824886;19825989;20864503;18577758;22885137;21376262;21652606;22870296;21749919;22118942;22129936 11255 Q8WY01;Q9Y5N1 AB019000;ABBA01040102;AF140538;AF321910;AF321911;AF321912;AF321913;AF346903;AF346904;AF363791;AJ278250;AJ296652;AK074730;AL078633;AMYH01012046;BC096840;CH471077;NM_007232 AAD38151;AAH96840;AAK50040;AAL71911;AAL71912;AAL71913;AAL71914;AAM43828;AAM43829;BAB17030;BAC11167;CAC39434;CAC51025;EAW75381;EAW75382;EAW75383;EAW75384;EAW75385;NP_009163;Q9Y5N1 Hs.251399 GPCR97;HH3R G protein-coupled receptor 97;G-protein coupled receptor 97;H3R;OTTHUMP00000031459;histamine H3 receptor APPROVED protein-coding ENSG00000101180 5184 604525 VALIDATED 736906 HRG histidine-rich glycoprotein This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Jul 2008] 3 3 q27 187866492 187878717 + 186383798 186396023 + 1599656;1580863;6480464;7240710 9414276 6414553;14718574;19285951;17229145;16436387;16335952;16107330;15489334;15269838;15220341;15138272;12764609;12477932;12391183;10514432;10421785;10050040;9276466;9184145;8478593;8478589;8348977;8188234;6438154;4116337;3958188;3819648;3011081;2566603;2524479;2347592;1678514;1561009;1459097;20573803;19913121;20628086;19674792;19712047;20071662;20237496;20303064;21304106;21215706;19903770;678554;21757718;18797515;21665544;22703881;11134179;14744774;16489009;6740558 3273 P04196;Q68DR3 AB005803;ABBA01058384;AC109780;AI800281;AK313381;AMYH01013734;BC069574;BC150591;CH471052;CR749302;M13149;NG_021485;NM_000412;Z17218 AAA52694;AAH69574;AAI50592;BAA21613;BAG36179;CAA78925;CAH18157;EAW78183;EAW78184;NP_000403;P04196 Hs.1498 1741441;1742777;2125110;2187178 D3S4002;GDB:181212;GDB:206583;SHGC-77619 DKFZp779H1622;HPRG;HRGP;THPH11 OTTHUMP00000210110;histidine-proline-rich glycoprotein;histidine-rich glycoprotein APPROVED protein-coding ENSG00000113905 5181 00812 142640;613116 REVIEWED 731025 HRK harakiri, BCL2 interacting protein (contains only BH3 domain) This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 12 12 q24.22 115783410 115803615 - 117299027 117319232 - 1580863;70327;2290488;2314029;6480464 10075695;17428807;19641503 15694340;16697956;9130713;18037991;18008329;15031724;14695142;14596824;12606589;12477932;12217801;11796190;11483855;11331593;11076863;9228060;15721256;19641496;20379614;20855536;22773666;21666788;21209886;21731739;22005931;22504421;19322201;22504417;22964433;23192964;23090478 8739 K7EJY7;O00198 ABBA01020022;AC083806;AMYH01004779;BE674890;CH471054;D83699;NM_003806;NR_073189;U76376 AAC34931;AAI11924;EAW98093;NP_003797;O00198 Hs.87247 1764705;1787154;2220650 SHGC-148297;SHGC-156031;UniSTS:487026 DP5;HARAKIRI BCL2-interacting protein;BH3-interacting domain-containing protein 3;OTTHUMP00000240831;activator of apoptosis Hrk;activator of apoptosis harakiri;death protein 5;neuronal death protein DP5 APPROVED protein-coding 5185 04581 603447 REVIEWED 1354172 HS3ST3A2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A2 9988767 9954 5197 735405 HRH4 histamine receptor H4 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 18 18 q11.2 20294591 20313919 + 22040593 22059921 + 1580863;6480464 22363581;10973974;11118334;19281909;19166345;19156168;19053770;19046950;18635748;18582456;18572901;18452403;18345506;18345495;18345487;18258331;18239617;17978505;17806182;17806168;17681365;17627982;17507084;16547812;16547802;16203768;15489334;15265943;15191551;12477932;11394877;11181941;11179436;11179435;11179434;22153663;18240029;19271148;19662098;20192225;20199554;20237496;18577758;19958313;20800603;20722760;20618322;21104170;21609450;22653292;22885137;21171298;21614010;21741967;23481304;22201741;23006423;22973061;22118942;21881994 59340 B2KJ49;Q9H3N8 AB044934;AB045370;ABBA01022610;AC007922;AF307973;AF312230;AF325356;AF329449;AJ298292;AMYH01008892;AY008280;AY136745;BC069136;BC112348;CH471088;DQ835186;DQ835187;EF444982;NM_001143828;NM_001160166;NM_021624 AAG32052;AAH69136;AAI12349;AAK12081;AAK43542;AAL01684;AAL09297;AAN01271;ABI54174;ABI54175;ACA05997;BAB13698;BAB20091;CAC83493;EAX01189;NP_001137300;NP_001153638;NP_067637;Q9H3N8 Hs.287388 5016596 GDB:631802 AXOR35;BG26;GPCR105;GPRv53;H4;H4R;HH4R;MGC133027 G-protein coupled receptor 105;OTTHUMP00000162782;SP9144;pfi-013 APPROVED protein-coding ENSG00000134489 17383 06004 606792 REVIEWED 1602467 HS1BP3 HCLS1 binding protein 3 The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20679957 20713243 - 20681045 20714345 - 20817564 20850864 - 6480464 19524641;16116142;15699368;14702039;12477932;10590261;8889549;21699750;21139048 64342 B5MC96;F6TR53;F8WDN8;H7BZ19;H7BZZ1;H7C0Y9;Q53T59;Q9H7U7 ABBA01018473;AC012065;AK024311;AK123411;AK314383;AMYH01010155;BC027947;BC038847;BC050636;BC057389;BG753647;BX354596;CH471053;N62141;NM_022460 AAH50636;AAX93235;BAB14878;BAG37009;EAX00812;EAX00813;EAX00814;EAX00815;EAX00816;EAX00817;NP_071905;Q53T59 Hs.531785 1699526;2122425;5113717 RH103358;RH93819;SHGC-34587 ETM2;FLJ14249;HS1-BP3 HCLS1-binding protein 3;HS1-binding protein 3;HSP1BP-3;OTTHUMP00000151187 APPROVED protein-coding ENSG00000118960 24979 13357 609359 REVIEWED 1350015 HS3ST3B2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B2 9988767 9952 5199 1313348 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008] 1 1 1 p22.3 85623706 85821380 + 87152950 87348252 + 87380335 87575681 + 6480464;6907045 17227754;16710414;15489334;15317737;14702039;12477932;10731680;10677367;9455484;20379614;21048031 9653 A6ND99;K7EP71;Q7LGA3 AB007917;AB024568;ABBA01045608;ABBA01045609;ABBA01045610;AC093155;AF086247;AK023260;AL121989;AMYH01000770;AMYH01000771;AMYH01000772;BC025384;BC025990;BC108735;BF431947;CH471097;NM_001134492;NM_012262 AAH25384;AAH25990;AAI08736;ADZ15840;BAA32293;BAA89250;BAG51177;EAW73170;EAW73171;EAW73172;EAW73173;NP_001127964;NP_036394;Q7LGA3 Hs.743280 1657076;1660171;1692268;1692704;1697176;1772516;2110457;2132828;2151900;2181362;5022034 AL009717;AL034028;AL034101;Cda17d05;D1S3294;G27524;HS2ST1__6589;RH102077;RH77888;SHGC-75114;UBA2 FLJ11317;KIAA0448;MGC131986;dJ604K5.2 2-O-sulfotransferase;2OST;OTTHUMP00000011908;OTTHUMP00000011909;heparan sulfate 2-O-sulfotransferase 1 APPROVED protein-coding ENSG00000153936 5193 09215 604844 REVIEWED 1343199 HRSP12 heat-responsive protein 12 8 8 q22 99183743 99198594 - 99114567 99129418 - 1580863;6480464 8530410;16198412;15489334;14997576;12477932;10961346;10400702;9767104;9463573;9405234;8973653;18029348;20877624;18276110;22939629;22210626;21139048;21988832;23251661;22053931 10247 E5RIP8;H0YB34;H0YBX3;P52758 ABBA01037533;ABBA01037534;AMYH01018917;AP003439;AY026764;BC010280;BC012592;BC093059;BX348173;CH471060;CR456844;CR541652;CS185579;D62115;NM_005836;X95384 AAH10280;AAH12592;AAH93059;AAK01939;ABM83723;ABM87043;CAA64670;CAG33125;CAG46453;CAJ42760;EAW91774;EAW91775;NP_005827;P52758 Hs.18426 1663894;1670244 RH66205;STS-T86935 P14.5;PSP;UK114 14.5 kDa translational inhibitor protein;OTTHUMP00000227187;OTTHUMP00000227756;OTTHUMP00000227877;OTTHUMP00000228222;UK114 antigen homolog;perchloric acid-soluble protein;ribonuclease UK114;translational inhibitor p14.5;translational inhibitor protein p14.5 protein-coding ENSG00000132541 16897 03924 602487 VALIDATED 1344226 HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 16 16 16 p13.3 2173672 2180439 - 1901465 1908232 - 1961464 1968231 - 1580863;6480464 15616553;15303968;12907690;12740361;12138164;11157797 64711 C9JH64;J3KR40;Q96QI5 ABBA01030288;AE006640;AL031723;AMYH01007043;CH471112;NM_001009606 AAI56439;AAI72540;AAK61299;EAW85602;EAW85603;NP_001009606;Q96QI5 Hs.670144 HS3ST5 3-OST-6;OTTHUMP00000045529;h3-OST-6;heparan sulfate (glucosamine) 3-O-sulfotransferase 5;heparan sulfate 3-O-sulfotransferase 6;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6;heparan sulfate glucosamine 3-O-sulfotransferase 6;heparan sulphate D-glucosaminyl 3-O-sulfotransferase-3B like protein-coding ENSG00000162040 14178 17115 VALIDATED 1322170 HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Jul 2008] 17 17 17 p12 13424332 13530566 - 13339731 13445969 - 13399006 13505244 - 1580863;6480464;6907045 9988767;17903302;15489334;15304505;12975309;12477932;12384783;10608887;10520990;9988768;7744762;20487506;22475533 9955 J3KSX5;Q9Y663 ABBA01055019;ABBA01055020;ABBA01055021;ABBA01055022;ABBA01055023;ABBA01055024;AC005375;AC005411;AF105376;AK292047;AMYH01008122;AY358838;BC044647;CH471108;NM_006042 AAD30208;AAH44647;AAQ89197;BAF84736;EAW89959;NP_006033;Q9Y663 Hs.462270 1339826;1774982;1783616;2120283;2128965;7186577 D17S1550;D17S936;G10331;RH46096;SHGC-171542 30ST3A1;3OST3A1 3-OST-3A;OTTHUMP00000064678;h3-OST-3A;heparan sulfate 3-O-sulfotransferase 3A1;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1;heparan sulfate glucosamine 3-O-sulfotransferase 3A1;heparin-glucosamine 3-O-sulfotransferase APPROVED protein-coding ENSG00000153976 5196 04958 604057 REVIEWED 1346869 HS6ST1P1 heparan sulfate 6-O-sulfotransferase 1 pseudogene 1 1 1 p36.12 21754761 21758727 + 21754761 21758727 + 388605 ABBA01059812;ABBA01059813;AL592309;AMYH01000334;NG_005670 1650788;1687401 IB2493;RH76508 HS6ST1P APPROVED pseudo 31835 INFERRED 1346040 HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008] 16 16 16 p12 21605210 21707167 + 22733361 22835160 + 22825860 22927659 + 1580863;2317633;6480464;6907045 12527896 9988767;18757372;17482450;16336986;15489334;12975309;12477932;9988768;7744762;19850283;20379614 9956 H3BMR2;Q9Y278 AB209794;ABBA01017830;ABBA01017831;AC027102;AC130450;AC130466;AF105374;AF105375;AK313463;AMYH01007380;AY359095;BC093734;BC093736;CH471145;NM_006043 AAD30206;AAD30207;AAH93734;AAH93736;AAQ89453;BAD93031;BAG36249;EAW55840;NP_006034;Q9Y278 Hs.115830;Hs.733610 1738811;2136868;2145982 D16S2876;SHGC-60514;SHGC-60734 30ST2;3OST2 3-OST-2;OTTHUMP00000120014;h3-OST-2;heparan sulfate 3-O-sulfotransferase 2;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2;heparan sulfate glucosamine 3-O-sulfotransferase 2;heparin-glucosamine 3-O-sulfotransferase APPROVED protein-coding ENSG00000122254 5195 04957 604056 REVIEWED 6481307 HS6ST2-AS1 HS6ST2 antisense RNA 1 X 131801670 131803916 + 100874102 ABBA01042257;AMYH01022988;BQ001311;NR_046691;Z86064 Hs.619341 APPROVED miscrna ENSG00000235849 40870 PREDICTED 1352921 HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 24481172 24925414 + 25610848 26001430 + 25703347 26149009 + 6480464 9988767;18757372;17482450;16259945;12080045;20379614;23251661 9951 Q9Y661 ABBA01017127;ABBA01017128;ABBA01017129;ABBA01017130;ABBA01017131;AC092141;AC093509;AC093511;AC093516;AC093524;AF105378;AL834283;AMYH01007400;AMYH01007401;AY476736;CH471145;EF063601;EF063602;EF063603;EF063604;EF063605;EF063606;EF063607;EF063608;NM_006040 AAD30210;AAI56388;AAI57118;AAS58324;ABN79912;ABN79913;ABN79914;ABN79915;ABN79916;ABN79917;ABN79918;ABN79919;CAD38957;EAW55764;NP_006031;Q9Y661 Hs.655275 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1540;REN21541;REN21542;REN21543;REN21544;REN21545;REN21546;REN21547;REN21548;REN21549;REN21550;REN21551;REN21552;REN21553;REN21554;REN21555;REN21556;REN21557;REN21558;REN21559;REN21560;REN21561;REN21562;REN21563;REN21564;REN21565;REN21566;REN21567;REN21568;REN21569;REN21570;REN21571;REN21572;REN21573;REN21574;REN21575;REN21576;REN21577;REN21578;REN21579;REN21580;REN21581;REN21582;REN21583;REN21584;REN21585;REN21586;REN21587;REN21588;REN21589;REN21590;REN21591;REN21592;REN21593;REN21594;REN21595;REN21596;REN21597;REN21598;REN21599;REN21600;REN21601;REN21602;REN21603;REN21604;REN21605;REN21606;REN21607;REN21608;REN21609;REN21610;REN21611;REN21612;REN21613;REN21614;REN21615;REN21616;REN21617;REN21618;REN21619;REN21620;REN21621;REN21622;REN21623;REN21624;REN21625;REN21626;REN21627;REN21628;REN21629;REN21630;REN21631;REN21632;REN21633;REN21634;REN21635;REN21636;REN21637;REN21638;REN21639;REN21640;REN21641;REN21642;REN21643;REN21644;REN21645;REN21646;REN21647;REN21648;REN21649;REN21650;REN21651;REN21652;REN21653;REN21654;REN21655;REN21656;REN21657;REN21658;REN21659;REN21660;REN21661;REN21662;REN21663;REN21664;REN21665;REN21666;REN21667;REN21668;REN21669;REN21670;REN21671;REN21672;REN21673;REN21675;REN21676;REN21677;REN21678;REN21679;REN21680;REN21681;REN21682;REN21683;REN21684;REN21685;REN21686;REN21687;REN21688;REN21689;REN21690;REN21691;REN21692;REN21693;REN21694;REN21695;REN21696;REN21697;REN21698;REN21699;REN21700;REN21701;REN21702;REN21703;REN21704;REN21705;REN21706;REN21707;REN21708;REN21709;REN21710;REN21711;REN21712;REN21713;REN21714;REN21715;REN21716;REN21718;REN21719;REN21720;REN21721;REN21722;REN21723;REN21724;REN21725;REN21726;REN21727;REN21728;REN21729;REN21730;REN21731;REN21732;REN21733;REN21734;REN21735;REN21736;REN21737;REN21738;REN21739;REN21740;REN21741;REN21742;REN21743;REN21744;REN21745;REN21746;REN21747;REN21748;REN21749;REN21750;REN21751;REN21752;REN21753;REN21754;REN21755;REN21756;REN21757;REN21758;REN21759;REN21760;REN21761;REN21762;REN21763;REN21764;REN21765;REN21766;REN21767;REN21768;REN21769;REN21770;REN21771;REN21772;REN21773;REN21774;REN21775;REN21776;REN21777;REN21778;REN21779;REN21780;REN21781;REN21782;REN21783;REN21784;REN21785;REN21786;REN21787;REN21788;REN21789;REN21790;REN21791;REN21792;REN21793;REN21794;REN21795;REN21796;REN21797;REN21798;REN21799;REN21800;REN21801;REN21802;REN21803;REN21804;REN21805;REN21806;REN21807;REN21808;REN21809;REN21810;REN21811;REN21812;REN21813;REN21814;REN21815;REN21816;REN21817;REN21818;REN21819;REN21820;REN21821;REN21822;REN21823;REN21824;REN21825;REN21826;REN21827;REN21828;REN21829;REN21830;REN21831;REN21832;REN21833;REN21834;REN21835;REN21836;REN21837;REN21838;REN21839;REN21840;REN21841;REN21842;REN21843;REN21844;REN21845;REN21846;REN21847;RH121627;SHGC-146547;SHGC-146814;SHGC-147287;SHGC-148620;SHGC-149010;SHGC-149011;SHGC-149801;SHGC-153290;SHGC-155050;SHGC-60604;SHGC-60715;SHGC-81087;SHGC-83027;stSG622005;stSG622006;stSG622008;stSG622009;stSG622010;stSG622011;stSG622012;stSG622013;stSG622014;stSG622015;stSG622016;stSG622017;stSG622018;stSG622019;stSG622020;stSG622021;stSG622022;stSG622023;stSG622024;stSG622025;stSG622026;stSG622027;stSG622028;stSG622029;stSG622031;stSG622032;stSG622033;stSG622034;stSG622035;stSG622037;stSG622038;stSG622039;stSG622040;stSG622041;stSG622042;stSG622043;stSG622044;stSG622045;stSG622046;stSG622047;stSG622048;stSG622049;stSG622050;stSG622051;stSG622052;stSG622053;stSG622054;stSG622055;stSG622056;stSG622057;stSG622058;stSG622059;stSG622060;stSG622061;stSG622062;stSG622063;stSG622064;stSG622065;stSG622066;stSG622067;stSG622068;stSG622069;stSG622070;stSG622071;stSG622072;stSG622073;stSG622074;stSG622075;stSG622076;stSG622077;stSG622078;stSG622079;stSG622080;stSG622081;stSG622082;stSG622083;stSG622084;stSG622085;stSG622086;stSG622087;stSG622088;stSG622089;stSG622090;stSG622091;stSG622092;stSG622093;stSG622094;stSG622095;stSG622096;stSG622097;stSG622098;stSG622099;stSG622100;stSG622101;stSG622102;stSG622103;stSG622104;stSG622105;stSG622106;stSG622108;stSG622109;stSG622110;stSG622111;stSG622112;stSG622113;stSG622114;stSG622115;stSG622118;stSG622119;stSG622120;stSG622121;stSG622122;stSG622123;stSG622124;stSG622125;stSG622126;stSG622127;stSG622128;stSG622129;stSG622130;stSG622131;stSG622132;stSG622133;stSG622134;stSG622135;stSG622136;stSG622137;stSG622138;stSG622139;stSG622140;stSG622141;stSG622142;stSG622143;stSG622144;stSG622145;stSG622146;stSG622147;stSG622148;stSG622149;stSG622158;stSG622159;stSG622160;stSG622161;stSG622162;stSG622163;stSG622164;stSG622165;stSG622166;stSG622167;stSG622168;stSG622169;stSG622170;stSG622171;stSG622172;stSG622173;stSG622174;stSG622175;stSG622176;stSG622177;stSG622178;stSG622179;stSG622180;stSG622181;stSG622182;stSG622183;stSG622184;stSG622185;stSG622186;stSG622187;stSG622188;stSG622189;stSG622190;stSG622191;stSG622192;stSG622193;stSG622194;stSG622195;stSG622196;stSG622197;stSG622198;stSG622199;stSG622200;stSG622201;stSG622203;stSG622204;stSG622205;stSG622206;stSG622207;stSG622208;stSG622209;stSG622210;stSG622211;stSG622212;stSG622213;stSG622214;stSG622215;stSG622216;stSG622217;stSG622218;stSG622219;stSG622220;stSG622221;stSG622223;stSG622224;stSG622225;stSG622226;stSG622227;stSG622229;stSG622230;stSG622231;stSG622232;stSG622233;stSG622234 3-OST-4;30ST4;3OST4;h3-OST-4 OTTHUMP00000066342;h3-OST-4;heparan sulfate 3-O-sulfotransferase 4;heparan sulfate 3-O-sulfotransferase-4;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4;heparan sulfate glucosamine 3-O-sulfotransferase 4 APPROVED protein-coding ENSG00000182601 5200 04960 604059 REVIEWED 731446 HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008] 4 4 4 p16 11864401 11894954 - 11009086 11039635 - 11399988 11430537 - 1580863;6480464;6907045 9988767;9346953;18029348;15489334;15096036;14702039;12477932;11006120;9988768;8900198;7744762;17207965;21832049;21906983;22719876 9957 E9PDE3;O14792 AA825270;ABBA01032529;AC006230;AF019386;AI478981;AK096823;AMYH01014000;BC025735;BC057803;BM547276;CH471069;NM_005114 AAB84388;AAH25735;AAH57803;ADQ33038;BAG53368;EAW92699;EAW92700;EAW92701;EAW92702;NP_005105;O14792 Hs.507348;Hs.605349 1748517;1790211;2115934;2180090;2189107 AA963021;D4S3288;G65160;RH78843;SHGC-31234 3OST;3OST1 3-OST-1;OTTHUMP00000115651;OTTHUMP00000218044;OTTHUMP00000218045;h3-OST-1;heparan sulfate 3-O-sulfotransferase 1;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1;heparan sulfate glucosamine 3-O-sulfotransferase 1;heparin-glucosamine 3-O-sulfotransferase APPROVED protein-coding 5194 04455 603244 REVIEWED 1316454 HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. [provided by RefSeq, Jul 2008] 17 17 17 p12 14228464 14273440 + 14145231 14190217 + 14204506 14249492 + 1580863;6480464;6907045 9988767;18464913;15489334;15304505;14702039;12477932;12384783;7744762;10520990;9988768;20797317;20705311;21709440;22475533;23291589 9953 Q9Y662 ABBA01055033;AC005224;AF105377;AK023723;AMYH01008125;BC063301;BC069664;BC069725;CH471108;NM_006041 AAD30209;AAH63301;AAH69664;AAH69725;BAG51220;EAW89953;EAW89954;NP_006032;Q9Y662 Hs.48384 1696064;1856813;2135116;2142982;2185378;5037552 D8S2279;L29896;SHGC-83228;STS-H63634;STS-W95041;WI-12681 30ST3B1;3OST3B1 3-OST-3B;OTTHUMP00000064702;h3-OST-3B;heparan sulfate 3-O-sulfotransferase 3B1;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1;heparan sulfate glucosamine 3-O-sulfotransferase 3B1 APPROVED protein-coding 5198 04959 604058 REVIEWED 1348838 HSBP1P1 heat shock factor binding protein 1 pseudogene 1 14 14 14 q23.1 38980575 38981097 + 58000259 58000979 + 58930607 58931127 + 326296 ABBA01018261;AL139021;AMYH01005761;NG_002548 1679666 RH41809 pseudo 20053 INFERRED 2902401 HSBP1P2 heat shock factor binding protein 1 pseudogene 2 4 4 q25 108466715 108467219 - 111172778 111173282 - 9847074 100288483 ABBA01063794;AC108145;AMYH01014461;NG_012919 pseudo 37300 INFERRED 1314962 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008] 6 6 6 q21 115118158 115125449 - 114485114 114490702 - 114376750 114384041 - 1580863;6480464;6907045 12740361;12138164;18978678;16099108;15489334;15026143;14702039;12477932 222537 Q3LID4;Q8IZT8 AB074164;ABBA01026061;AF503292;AK091074;AK126930;AK289907;AL355498;AMYH01016607;BC093911;BC093913;CH471051;NM_153612 AAH93911;AAH93913;AAN37737;BAE45734;BAF82596;EAW48251;NP_705840;Q8IZT8 Hs.645477 2191065;2219140 HS3ST5__6593;MARC_13929-13930:1007579405:1 3-OST-5;3OST5;HS3OST5;NBLA04021 Nbla04021 product-like;h3-OST-5;heparan sulfate 3-O-sulfotransferase 5;heparan sulfate 3-OST-5;heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5;heparan sulfate glucosamine 3-O-sulfotransferase 5 APPROVED protein-coding ENSG00000249853 19419 13674 609407 VALIDATED 1319437 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q21 122329574 122382723 - 128739524 128792641 - 129023054 129076171 - 1580863;6480464;6907045 9535912;15815621;15489334;15342556;12492399;12477932;20379614;21700882;23362303 9394 O60243 AB006179;ABBA01040173;AC017079;AK058121;AL831893;AMYH01011028;AMYH01011029;BC001196;BC019025;BC047087;BC063521;BC096239;BC096240;BC099638;BC099639;BP219645;CH471103;CV569969;DR005030;NG_032966;NM_004807 AAH01196;AAH96239;AAH96240;AAH99638;AAH99639;AAY14736;BAA25760;EAW95357;EAW95358;EAW95359;NP_004798;O60243 Hs.512841 1650788;1687401;1784046;5113350;5492833 IB2493;RH76508;RH78052;SHGC-145341;UniSTS:482962 DKFZp547H098;FLJ25392;HH15;HS6ST;MGC116899;MGC116901 HS6ST-1;OTTHUMP00000204080;heparan-sulfate 6-O-sulfotransferase 1;heparan-sulfate 6-sulfotransferase APPROVED protein-coding ENSG00000136720 5201 07274 604846;614880 REVIEWED 1314189 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008] 13 13 13 q32.1 77590616 78339250 + 95541094 96289813 + 96743093 97491816 + 1580863;6480464;6907045 14702039;12477932;11991713;10644753;15226404;15057823;20379614;21310492;21647334 266722 B3KX95;Q8IZP7 ABBA01027168;ABBA01027169;ABBA01027170;ABBA01027171;ABBA01027172;ABBA01027173;AF339796;AF339824;AF539426;AI937089;AK091343;AK124236;AK126947;AL138816;AL139087;AL158192;AL159979;AL160253;AL353581;AL356098;AMYH01005310;AMYH01005311;BC037795;CH471085;CR749677;NM_153456;XM_003846570;XM_003960532 AAI56338;AAI57126;AAN33062;BAG54407;CAH18468;EAX08963;NP_703157;Q8IZP7;XP_003846618;XP_003960581 Hs.171001;Hs.740393 1337026;1338731;1644237;1647313;1662394;1669157;1694862;1703282;1723019;1736378;1757765;1757773;1778052;1782870;1782906;2113312;2113388;2113392;2113398;2142258;2159505 A002U05;D13S1280;D13S132;D13S1717;D13S1758;D13S1760;D13S1763;D13S254;D13S877E;G17704;G44302;G60459;RH77922;RH78584;SHGC-146476;SHGC-146494;SHGC-149555;SHGC-155001;SHGC-68276;SHGC-8118;WI-14918 DKFZp761K2315;HS6ST-3 HS6ST-3;OTTHUMP00000018574;heparan-sulfate 6-O-sulfotransferase 3 APPROVED protein-coding 19134 11030 609401 VALIDATED 2902676 HSBP1L1 heat shock factor binding protein 1-like 1 18 18 q23 74497054 74503294 + 77724582 77730822 + 6480464 12477932;14702039;16344560 440498 C9JCN9;K7ENV5 ABBA01013902;AC090360;AC114341;AK001829;AMYH01009137;BC017654;BC040056;BC157848;CA444419;CH471117;DA919112;NM_001136180 AAI57849;C9JCN9;EAW66638;NP_001129652 Hs.191582 1666111;5122033 RH45894;STS-N32189 FLJ10967;MGC189743 heat shock factor binding protein 1-like;heat shock factor-binding protein 1-like protein 1 protein-coding ENSG00000226742 37243 VALIDATED 1605906 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q26.2 132146408 132481789 - 131587719 131923093 - 131760038 132095423 - 6480464;6907045 10644753;16303743;15772651;15489334;14702039;12492399;12477932;21443520 90161 B7Z5H6;J3KP99;Q8N3T4 AB067776;AB067777;ABBA01042249;ABBA01042250;ABBA01042251;ABBA01042252;ABBA01042253;ABBA01042254;ABBA01042255;ABBA01042256;ABBA01042257;ABBA01042258;ABBA01042259;ABBA01042260;ABBA01042261;ABBA01042262;ABBA01042263;ABBA01042264;ABBA01042265;ABBA01042266;ABBA01042267;ABBA01042268;ABBA01042269;ABBA01042270;ABBA01042271;ABBA01042272;ABBA01042273;ABBA01042274;ABBA01042275;ABBA01042276;ABBA01042277;ABBA01042278;ABBA01042279;ABBA01042280;ABBA01042281;ABBA01042282;ABBA01042283;ABBA01042284;ABBA01042285;ABBA01042286;ABBA01042287;ABBA01042288;AI253113;AK027720;AK056706;AK075402;AK295041;AK295118;AK298956;AL022159;AL022309;AL049679;AL831923;AMYH01022987;AMYH01022988;BC037325;BC094718;BC110620;BC110621;NG_012840;NM_001077188;NM_147175;Z81365;Z82205;Z86064 AAH37325;AAH94718;AAI10621;AAI10622;BAB55322;BAB71260;BAC07183;BAC07184;BAC11597;BAH11957;BAH11981;BAH12912;CAB41248;CAD38583;NP_001070656;NP_671704;Q96MM7 Hs.385956 1645541;1659739;1676254;1694314;1694386;1702334;1702636;1702808;1702972;1709292;1748133;1748165;1748167;1774212;1847571;2122080;2134724;2136343;2147426;2161432;2167780;2169068;2191483;2219142;5094452;5094454;5094500;7184800 AFMa203zh5;AL008920;AL008921;AL023922;DXS1308;DXS692;DXS7050;DXS7348;DXS7350;DXS7351;DXS7352;DXS7811;G30605;G42852;G42888;G54806;G54807;G54850;G66648;G66742;G66743;HS6ST2__6595;MARC_23783-23784:1027523790:1;RH47723;RH98637;SHGC-85845;UniSTS:99463 MGC130022;MGC130023 HS6ST-2;OTTHUMP00000024050;OTTHUMP00000211170;heparan-sulfate 6-O-sulfotransferase 2 APPROVED protein-coding ENSG00000171004 19133 06590 300545 REVIEWED 736685 HSBP1 heat shock factor binding protein 1 The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008] 16 16 16 q23.3 68142699 68147697 + 82399094 82404095 + 83841508 83846607 + 1580863;6480464 9649501;18767159;16303743;16189514;15489334;12477932;11679589;9493008;20562859;21247889;23383273;22939629 3281 H3BR28;O75506 ABBA01016933;AC009119;AF068754;AK026575;AK172732;AMYH01007864;AY320409;BC007515;BX366956;BX537440;BX648972;CH471114;DB519225;NM_001537 AAC25186;AAH07515;AAP73809;ACE86514;CAD97682;EAW95514;NP_001528;O75506 Hs.250899 1666560;1679666;1712096;1712166;1713139;1737573;2115573;2166777 D16S2665;D16S3242;G54097;RH120356;RH41809;RH65446;SHGC-31940;UniSTS:109370 DKFZp686D1664;DKFZp686O24200;NPC-A-13 heat shock factor-binding protein 1;nasopharyngeal carcinoma-associated antigen 13 APPROVED protein-coding ENSG00000230989 5203 05185 604553 REVIEWED 1602295 HSCB HscB iron-sulfur cluster co-chaperone homolog (E. coli) 22 22 22 q12.1 12938022 12953467 + 27468043 27483498 + 29138043 29153498 + 6480464 12938016;18713742;16952052;15489334;15461802;12477932;10591208;20729852;20668094;20877624 150274 B0QYH2;F8WBY7;Q8IWL3 ABBA01055239;AL023494;AL117330;AMYH01012691;AY191719;BC065569;CH471095;CR456462;NM_172002 AAH65569;AAN85282;CAG30348;EAW59758;EAW59759;EAW59760;NP_741999;Q8IWL3 Hs.632780 1767567;1781126;1791462;2152690;5093592 A009S23;G32810;PMC111029P1;RH17891;stdJ366L4.X.6856 DNAJC20;HSC20;JAC1;MGC2637;MGC74462;dJ366L4.2 DnaJ (Hsp40) homolog, subfamily C, member 20;J-type co-chaperone HSC20;OTTHUMP00000199107;dnaJ homolog subfamily C member 20;iron-sulfur cluster co-chaperone protein HscB, mitochondrial protein-coding ENSG00000100209 28913 16289 608142 VALIDATED 1605800 HSD11B1L hydroxysteroid (11-beta) dehydrogenase 1-like This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 19 19 19 p13.3 5618402 5625900 + 5632035 5639533 + 5680776 5688534 + 15342248;12477932;21145461;19436836;16344560;20350543 374875 J3KRL3;J3KTC8;J3QKQ3;J3QKX1;J3QS77;J3QSE6;Q7Z5P8 ABBA01056001;AC011499;AI871311;AK308206;AMYH01009363;AY268351;AY268352;AY268353;AY268354;AY313894;AY313895;AY313896;BC018336;BC053546;BC062777;BC072434;BC093950;BC094798;BC112187;CH471139;CX865680;DA343367;NM_001267868;NM_001267869;NM_001267870;NM_001267871;NM_198533;NM_198704;NM_198705;NM_198706;NM_198707;NM_198708 AAH18336;AAH53546;AAH72434;AAH93950;AAI12188;AAI52754;AAP42285;AAP42286;AAP42287;AAP42288;AAP83166;AAP83167;AAP83168;EAW69156;EAW69157;NP_001254797;NP_001254798;NP_001254799;NP_001254800;NP_940935;NP_941993;NP_941994;NP_941995;NP_941996;NP_941997;Q7Z5J1 Hs.631840;Hs.739286 2164258;5493149 RH78043;UniSTS:484450 11-DH3;11-beta-HSD3;HSD3;SCDR10;SCDR10B;SDR26C2 11-DH3;11-beta-HSD3;11-beta-hydroxysteroid dehydrogenase type 3;hydroxysteroid 11-beta-dehydrogenase 1-like protein;short chain dehydrogenase/reductase 10;short chain dehydrogenase/reductase family 26C, member 2;short-chain dehydrogenase/reductase 10 APPROVED protein-coding ENSG00000167733 30419 18022 REVIEWED 737091 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011] 1 1 q32-q41 207926173 207974918 + 209859525 209908295 + 1300048;1625067;1625071;1625075;1331525;6480464;6907045 12858176;16914598;16929377;15118671 21266326;15583024;1885595;19527514;19491387;19453261;19429429;19336370;19282465;19251840;19167490;19158196;19129713;19121282;19088256;19027726;19022912;19022342;19019335;19010388;18963204;18837961;18818748;18778749;18769825;18716005;18633104;18611262;18573267;18434359;18388900;18379559;18313835;18261751;18031327;17922306;17912154;17825335;17766714;17588937;17519316;17495191;17467270;17306259;17062770;17032748;16996097;16855188;16710414;16622297;16603347;16580270;16551740;16469798;16412558;16406280;16368752;16343739;16236446;16091483;15941907;15855321;15827106;15591536;15536220;15513927;15489334;15466942;15455200;15452033;15280030;15181046;15172126;15167446;15156315;15152005;15095019;14742837;14682470;14583441;14557491;12960005;12915696;12915682;12861241;12788882;12530692;12530648;12477932;22238371;12414862;12390875;12202416;12109593;11956655;11755176;11114699;10962348;10645953;10497258;10497248;9543163;9034789;7670488;7545619;9555943;18592327;18665910;19235128;19535162;19540999;19542242;19549748;19564704;19567539;19571556;19598235;19651257;19675138;19690925;19876004;19880789;19934376;20041117;20045052;20100573;20214802;20416077;20486282;20140262;21111044;20739946;20826586;19913121;20628086;20800085;19806478;20514603;21325058;21147223;23007990;21362233;21267686;21304964;21249616;21402901;21453287;21215738;21544007;21622477;23362866;21704348;21695543;21825133;22179810;22384521;21736538;22112815;22207732;21869537;22136330;22357964;22445027;22310475;23190557;21988832;22986073;22719058;23017470;23009206;21189603 3290 P28845 ABBA01048215;AK313973;AL022398;AL031316;AMYH01001696;AY044084;BC012593;BG619051;BM994393;BX345837;CB530075;CF596989;CF597174;CH471100;M76661;M76662;M76663;M76664;M76665;NG_012081;NM_001206741;NM_005525;NM_181755 AAC31757;AAH12593;AAK83653;ABM83838;ABW03522;BAG36688;EAW93445;EAW93446;NP_001193670;NP_005516;NP_861420;P28845 Hs.195040 1793936;2126774;2150185;2162343 D1S2136;PMC310500P4;RH69177;SHGC-76294 11-DH;11-beta-HSD1;CORTRD2;HDL;HSD11;HSD11B;HSD11L;MGC13539;SDR26C1 11-beta-hydroxysteroid dehydrogenase 1;OTTHUMP00000034649;OTTHUMP00000034650;corticosteroid 11-beta-dehydrogenase isozyme 1;hydroxysteroid 11-beta dehydrogenase 1;short chain dehydrogenase/reductase family 26C, member 1 APPROVED protein-coding ENSG00000117594 5208 07042 600713;614662 REVIEWED 737468 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010] 16 16 q22 66022537 66028957 + 67465036 67471456 + 1300048;1625078;1580863;1625083;2308925;2308939;2308941;2308922;2308923;2308924;2308940;6480464;6907045 9683587;15793240;10792625;17587755;17272666;17519316;16616286;11916625;17475897 21237268;22239940;18061258;18032417;17551100;17515840;17028049;16979406;16872738;16804865;16778331;16406280;16272800;16271275;16144812;16109323;16061836;15673310;15643127;15643119;15591138;15489962;15489334;15466942;7859916;19535674;19336370;19218882;19150652;19048413;19027726;19022342;18837962;18716005;18573267;18456686;18421276;18408592;18388900;18378698;18178212;15305225;15172126;15167446;14981055;14681848;14629298;12911547;12860834;12788846;12788832;12642869;12574226;12519895;12477932;12417987;12364476;12161498;12109593;12015312;11956655;11850421;11787058;11755176;11711524;11350956;11238516;10948076;10523339;10489390;9851783;9707624;9661590;9398712;9034789;8611186;8611140;8547170;8530071;7670488;7656579;7608290;7593417;2889032;2845584;22432047;19292059;19542242;19811365;19880179;20214802;20486282;19909806;20571110;20624455;20800085;20597806;12082639;12878208;22872687;23362866;21880714;21825133;21794917;21767875;22001010;22359645;22959142;22796344;22971074;23333641;23329753;22719058;22632162 3291 Q9UC51;R4GN04 ABBA01025437;AC009061;AMYH01007747;AY046280;BC036780;BC064536;CH471092;EF694683;FJ515828;NG_016549;NM_000196;U14631;U26726;U27317 AAA91969;AAB48544;AAC50356;AAH36780;AAH64536;AAK91586;ABS29267;ACS13714;EAW83134;NP_000187;P80365 Hs.1376 1677734;1768493;2117086;2150935;2181185 AF071493;RH64980;RH70275;SHGC-33002;WI-9392 AME;AME1;HSD11K;HSD2;SDR9C3 -HSD11 type II;11-DH2;11-beta-HSD;11-beta-HSD2;11-beta-hydroxysteroid dehydrogenase type 2;11-beta-hydroxysteroid dehydrogenase type II;NAD-dependent 11-beta-hydroxysteroid dehydrogenase;OTTHUMP00000174801;corticosteroid 11-beta-dehydrogenase isozyme 2;hydroxysteroid 11-beta dehydrogenase 2;short chain dehydrogenase/reductase family 9C member 3 APPROVED protein-coding ENSG00000176387 5209 01958 218030;614232 REVIEWED 1343605 HSD17B1P1 hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1 17 17 17 q21.2 37353732 37356929 + 37951355 37954760 + 40697797 40700993 + 8703123;2779584 643646 ABBA01006421;AC067852;AMYH01008395;NG_006749;U34879 1652422;1742461;1770313;1778258 GDB:197113;RH18065;STS-M29037;WI-14373 EDH17B1;EDHB17;HSD17;HSD17BP1;SDR28C1P1 APPROVED pseudo 5216 INFERRED 736216 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 17 17 q11-q21 37957510 37960757 + 40703984 40707232 + 1580863;1300048;4890946;4889549;6480464;2325883;6907045 10682658;15583024;18821018 8547176;19453261;19429452;19429442;19415745;19061935;19050176;19027726;19015200;18984855;18843021;18820009;18817841;18676680;18636124;18593984;18483327;18467089;18415690;18086758;18083510;17953976;17588204;17507624;17457667;17454161;17301695;17110639;16969494;16954436;16949391;16896040;16489054;16480815;16467490;16311626;16260521;15733111;15640252;15489334;15241822;14973105;18723074;14966133;12584742;12527905;12519881;12519880;12490543;12477932;12223444;11212283;10625652;10460007;9927655;9525918;9435439;8855807;8805577;8756321;8703123;8389226;8206323;7663947;7648200;7626483;6578212;5045524;4719204;2846351;2779584;2584224;2547159;2330005;2197970;1977681;1327779;19170196;19401349;19556422;19574343;19625176;19627379;19630952;19679043;19692168;19776291;19929851;20151319;20151320;20193327;20214802;20381444;20382160;20432167;20453000;20172961;20586553;20634197;20729390;20734064;19027824;22613790;22546946;21198743;21563966;22362820;21857977;22199302;21317201;22176788;22253796;22691413 3292 B4DU11;P14061 ABBA01006421;AC067852;AK127832;AK300143;AK300159;AK300452;AK316292;AMYH01008395;BC019592;BC033110;BC037415;BC104752;BC111935;BF112114;BQ575124;CH471152;DQ469954;M27138;M29037;M36263;M84472;NM_000413;U34879;X13440 AAA35600;AAB16941;AAB16942;AAB17014;AAD05019;AAH33110;AAI04753;AAI11936;ABF13478;BAG54583;BAG61929;BAG61942;BAG62173;BAH14663;CAA31792;EAW60836;NP_000404;P14061 Hs.654385;Hs.655222 1741391;1742295;1742609;1742611;1742613;1742615;1742617;1778258;2128139;2161024;2183579;5016596;5037552 D8S2279;GDB:180973;GDB:196131;GDB:198064;GDB:198065;GDB:198066;GDB:198067;GDB:198068;GDB:631802;RH69134;SGC34304;STS-AA037233;WI-14373 EDH17B2;EDHB17;HSD17;MGC138140;SDR28C1 17-beta-HSD 1;17-beta-hydroxysteroid dehydrogenase type 1;20 alpha-hydroxysteroid dehydrogenase;20-alpha-HSD;E2DH;estradiol 17-beta-dehydrogenase 1;estradiol 17-beta-dehydrogenase-1;hydroxysteroid (17-beta) dehydrogenase 1 isoform;hydroxysteroid 17-beta dehydrogenase 1;placental 17-beta-hydroxysteroid dehydrogenase;short chain dehydrogenase/reductase family 28CE, member 1 1643462;2289501;2289511 BW108_H;BW444_H;BW453_H protein-coding 5210 00185 109684 VALIDATED 1312097 HSD17B14 hydroxysteroid (17-beta) dehydrogenase 14 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009] 19 19 19 q13.33 46184096 46207298 - 54008086 54031746 - 49316274 49339934 - 737633;1580863;6480464 12477932 17067289;19027726;16189514;15489334;12975309;10800688;17207965;18029348;19060904;22792371 51171 M0QY35;M0R147;M0R2R3;Q9BPX1 ABBA01032963;ABBA01032964;ABBA01032965;ABBA01032966;AC026803;AF126781;AK307437;AMYH01009908;AY358430;BC006283;BC006294;BI602824;CH471177;NM_016246 AAF06940;AAH06283;AAH06294;AAQ88796;ADQ32519;EAW52404;NP_057330;Q9BPX1 Hs.18788 1689229;1699262;1775928;2107519 L29754;PLEKHA4__6975;RH103213;RH91362 DHRS10;SDR47C1;retSDR3 17-beta-HSD 14;17-beta-hydroxysteroid dehydrogenase 14;17-beta-hydroxysteroid dehydrogenase DHRS10;dehydrogenase/reductase (SDR family) member 10;dehydrogenase/reductase SDR family member 10;retinal short-chain dehydrogenase/reductase 3;retinal short-chain dehydrogenase/reductase retSDR3;short chain dehydrogenase/reductase family 47C, member 1 APPROVED protein-coding ENSG00000087076 23238 16801 612832 VALIDATED 1352920 HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11 Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009] 4 4 4 q22.1 85546623 85601607 - 88476715 88531479 - 88257691 88312455 - 1580863;6480464 12697717;19027726;18804447;16344560;16303743;15489334;14996095;12975309;12477932;11165019;10800688;9888557;18029348;19469652;16712791;23568457;21549806;14741744;21139048;21890473;21906983;19322201;22505724;22797925 51170 D6RCD0;Q8NBQ5 ABBA01063533;ABBA01063534;AC108516;AF126780;AF273056;AK075348;AMYH01014374;AMYH01014375;AMYH01014376;AMYH01014377;AMYH01014378;AMYH01014379;AY062939;AY358553;BC008650;BC011995;BC014327;BC016367;BC021673;BC036001;CA775960;CB163647;CH471057;DA265697;NM_016245 AAF06939;AAH08650;AAH14327;AAH16367;AAH21673;AAH36001;AAL48315;AAM44459;AAQ88917;BAC11560;EAX05987;NP_057329;Q8NBQ5 Hs.594923 1674200;1773802;2217258 D4S3294;DHRS8_3587;RH36051 17BHSD11;DHRS8;PAN1B;RETSDR2;SDR16C2 17-BETA-HSD11;17-BETA-HSDXI;17-beta-HSD 11;17-beta-HSD XI;17-beta-hydroxysteroid dehydrogenase 11;17-beta-hydroxysteroid dehydrogenase XI;17-beta-hydroxysteroid dehydrogenase type XI;CTCL tumor antigen HD-CL-03;CTCL-associated antigen HD-CL-03;OTTHUMP00000161168;OTTHUMP00000219651;T-cell lymphoma-associated antigen HD-CL-03;cutaneous T-cell lymphoma-associated antigen HD-CL-03;dehydrogenase/reductase (SDR family) member 8;dehydrogenase/reductase SDR family member 8;estradiol 17-beta-dehydrogenase 11;retinal short-chain dehydrogenase/reductase 2;short chain dehydrogenase/reductase family 16C, member 2 APPROVED protein-coding ENSG00000198189 22960 10881 612831 VALIDATED 732223 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] X X p11.2 53474931 53478048 - 53458206 53461323 - 1358426;704404;1580863;1300048;6480464;6907045;7240710 9338779 9553139;18984158;19449377;19422801;19343046;19027726;18765932;18692800;18252223;17917077;17707551;17618155;17236142;16899120;16344560;16176262;16148061;16021519;15804423;15665036;15489334;15342248;15087549;14672739;12917011;12696021;12477932;11869808;11559359;11430884;11403151;10600649;10371197;10329704;9890977;9851691;9712734;9671743;9061028;8687463;21628590;21145461;20638476;19601895;19706438;19735314;19756307;20077426;20664630;21382475;22863883;20059664;22174920;20000738;20186120;17266347;19738201;22623428;23000965;21081666;21139048;21890473;21900206;21906983;21907836;22217844;22127393;17500595;22939629;23266819 3028 Q5H928;Q6IBS9;Q99714 ABBA01056416;AC233728;AF035555;AF037438;AF069134;AMYH01022423;AU132847;AY092415;BC000372;BC000829;BC008708;CH471154;CR456723;NG_008153;NM_001037811;NM_004493;U73514;U96132;Z97054 AAB68958;AAC15902;AAC16419;AAC39900;AAC51812;AAH00372;AAH08708;AAM18189;ADZ15690;CAG33004;CAI42651;CAI42652;CAI42653;EAW93157;EAW93158;EAW93159;NP_001032900;NP_004484;Q99714 Hs.171280 2137556;2159480 RH1705;SHGC-31766 17b-HSD10;ABAD;CAMR;DUPXp11.22;ERAB;HADH2;HCD2;MHBD;MRPP2;MRX17;MRX31;MRXS10;SCHAD;SDR5C1 3-hydroxy-2-methylbutyryl-CoA dehydrogenase;3-hydroxyacyl-CoA dehydrogenase type-2;AB-binding alcohol dehydrogenase;OTTHUMP00000023348;OTTHUMP00000023349;OTTHUMP00000023350;amyloid-beta peptide binding alcohol dehydrogenase;endoplasmic reticulum-associated amyloid beta-peptide-binding protein;mitochondrial RNase P subunit 2;mitochondrial ribonuclease P protein 2;short chain L-3-hydroxyacyl-CoA dehydrogenase type 2;short chain dehydrogenase/reductase family 5C, member 1;short chain type dehydrogenase/reductase XH98G2 APPROVED protein-coding ENSG00000072506 4800 02223 300220;300256;300438;300705 REVIEWED 1342842 HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13 4 4 4 q22.1 85513757 85532909 - 88443965 88463062 - 88224941 88244056 - 6480464 12975309;19027726;17311113;15489334;15221005;12477932;23568457;22001757;22139419 345275 Q7Z5P4 AB073347;ABBA01063531;ABBA01063532;AC108516;AK292784;AMYH01014374;AY186249;AY186250;AY268355;AY358575;BC112303;BC112305;CH471057;DR004209;NM_001136230;NM_178135 AAI12304;AAI12306;AAO72313;AAO72314;AAP42289;AAQ88938;ADR83118;BAD38632;BAF85473;EAX05985;EAX05986;NP_001129702;NP_835236;Q7Z5P4 Hs.284414 2219672;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;SCDR9__5552 HMFN0376;MGC138508;MGC138510;NIIL497;SCDR9;SDR16C3 17-beta hydroxysteroid dehydrogenase;17-beta-HSD 13;17-beta-hydroxysteroid dehydrogenase 13;OTTHUMP00000161177;OTTHUMP00000219650;short chain dehydrogenase/reductase family 16C, member 3;short-chain dehydrogenase/reductase 9 protein-coding ENSG00000170509 18685 18023 612127 VALIDATED 1349616 HSD17B7P1 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 1 1 q44 221282894 221284175 + 247990766 247992047 + 148818 ABBA01031793;AC099571;AJ297815;AMYH01001917;NG_001308 pseudo 18689 INFERRED 1346748 HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011] 11 11 p11.2 43658719 43834745 + 43702143 43878169 + 6480464;6907045 19533843;19429442;19190350;19027726;16621523;16166196;16113833;15489334;15342556;14702039;12482854;12477932;8125298;8944226;19460435;20562859;20677014;22903146;21409596;23435447;23455922;23464991;23752268;23798571;16196087;21139048;21890473;21906983;22678362;22941191;23106098;23246001;22190034;22797925 51144 E9PI21;Q53GQ0;Q96EA9 ABBA01060774;ABBA01060775;ABBA01060776;AC068205;AC087521;AF078850;AK027882;AK074952;AK075011;AK075216;AK092938;AK222881;AK292625;AK301663;AMYH01003520;BC012043;BC012536;BP359822;BX537496;CH471064;CQ783872;CQ783997;NM_016142 AAD44482;AAH12043;AAH12536;ABW03509;BAD96601;BAF85314;BAG52039;BAG52052;BAG52086;BAG63138;CAF86901;CAF86962;EAW68080;EAW68081;EAW68082;EAW68083;EAW68084;EAW68085;EAW68086;EAW68087;EAW68088;EAW68089;NP_057226;Q53GQ0 Hs.132513 1737051;1754023;1797710;1850095;2119642;2130690;2187014;5014051;5015619;5022200;5037552 D11S2799;D11S3114;D11S4606;D8S2278;D8S2279;HSD17B12_1813;L18426;RH44317;SHGC-132062;STS-H70621;WI-17839 KAR;SDR12C1 17-beta-HSD 12;17-beta-hydroxysteroid dehydrogenase 12;17beta-HSD type 12;3-ketoacyl-CoA reductase;OTTHUMP00000232808;estradiol 17-beta-dehydrogenase 12;short chain dehydrogenase/reductase family 12C, member 1;steroid dehydrogenase homolog APPROVED protein-coding ENSG00000149084 18646 09989 609574 VALIDATED 1344400 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008] 9 9 q22 98037410 98104255 - 98997589 99064434 - 1599964;1580863;4889108;4889107;2325883;6480464;6907045;7240710 8075637;18180323;18481435;18821018 15583024;19429456;19027726;18510611;17509588;17466011;16174723;15654505;15489334;14634838;12477932;12210481;11158067;9758445;9709959;9467575;8626842;8550739;6310248;2918056;598011;20634197;20677014;19453261;19505920;19574343;19598235;20059664;20214802;20453000;20734064;22137341;23375913;23183177 3293 P37058;Q5U0Q6;Q6FH62 ABBA01043595;ABBA01043596;ABBA01043597;ABBA01043598;AL160269;AMYH01021542;AMYH01021543;AY341031;BC034281;BT019371;CH471174;CR541894;HC007028;NG_008157;NM_000197;U05659 AAC50066;AAH34281;AAP88937;AAV38178;ABM82738;ABM85921;CAG46692;CBH19319;EAW92645;NP_000188;P37058 Hs.477 1339755;1682055;1758543;1787182;1788518;1788520;1788522;1788524;1788526;1788528;2135913;2179620 023XH8;D9S1717;D9S1786;G67552;G67553;G67554;G67555;G67556;G67557;RH92210;SHGC-148737;SHGC-82489 EDH17B3;SDR12C2 17-beta-HSD 3;17-beta-HSD3;17-beta-hydroxysteroid dehydrogenase type 3;OTTHUMP00000021718;short chain dehydrogenase/reductase family 12C, member 2;testicular 17-beta-hydroxysteroid dehydrogenase;testosterone 17-beta-dehydrogenase 3 1643473 BW102_H APPROVED protein-coding ENSG00000130948 5212 05716 264300;605573 REVIEWED 1602229 HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6 The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. Transcript variants utilizing alternative polyadenylation signals exist. [provided by RefSeq, Jul 2008] 12 12 q13 55443375 55467841 + 57157108 57181574 + 6480464;6907045 9188497;11513953;19027726;17289849;17070195;12477932;11360992;11306067;11165032;10896656;20526338;19837928;20200332;17207965;21039282;22114194 8630 G3V3Y9;G3V508;O14756 ABBA01008436;ABBA01008437;ABBA01008438;AC117378;AC121758;AF016509;AF223225;AI760144;AK313423;AMYH01004508;BC020710;CH471054;NM_003725;U89281 AAB67236;AAB88252;AAF81017;AAH20710;ADQ32110;BAG36215;EAW96963;EAW96964;EAW96965;EAW96966;NP_003716;O14756 Hs.524513 2122792 STS-W72382 HSE;RODH;SDR9C6 17-beta-HSD 6;17-beta-HSD6;17-beta-hydroxysteroid dehydrogenase type 6;3(alpha->beta)-hydroxysteroid epimerase;3(alpha->beta)-hydroxysteroid epimerasel;3-alpha->beta-HSE;3-alpha->beta-hydroxysteroid epimerase;3-hydroxysteroid epimerase;NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase;OTTHUMP00000244559;OTTHUMP00000244560;OTTHUMP00000244576;OTTHUMP00000244577;OTTHUMP00000244578;hydroxysteroid (17-beta) dehydrogenase 6 homolog;oxidative 3-alpha hydroxysteroid dehydrogenase;oxidative 3-alpha-hydroxysteroid-dehydrogenase;oxidoreductase;retinol dehydrogenase;short chain dehydrogenase/reductase family 9C, member 6 APPROVED protein-coding ENSG00000025423 23316 09431 606623 REVIEWED 1347247 HSD17B7P2 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 10 10 10 p11.1 38416338 38425580 + 38685314 38707439 + 38645308 38667433 + 6480464 15862963;12829805;12732193;12477932;10544267;21906983 158160 Q9NRW6 ABBA01033282;AF165514;AF165517;AK293968;AK295332;AK307174;AL133216;AL133217;AMYH01002262;AY829267;BC071987;BM148133;NR_003086 AAF86644;AAF86647;AAV87307;BAG57340;BAG58306 Hs.652484 1788688 RH115827 FLJ40773;HSD17B7;Hsd17b_2;MGC88684;bA291L22.1 pseudo ENSG00000099251 28120 14106 PROVISIONAL 1353008 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 16 16 q24.1-q24.2 80626364 80689638 + 82068858 82132139 + 1580863;4889549;6480464;6907045 15583024 16595205;16344560;15489334;15342556;15199113;14666693;14634838;12957669;12477932;12161528;11940569;11672453;10999824;9783542;9435439;9360554;8889548;8855807;8125298;7824086;7759109;7626483;7546291;16807381;17538076;8099587;19415745;19027726;18996480;18984855;18980759;18794456;18676680;18636124;18510611;18372405;18348690;17993718;17953976;17510238;17507624;17505937;17260097;17081983;16954436;20634197;21365123;19170196;19401349;19453261;19556422;19574343;19598235;19625176;19692168;19729830;19797119;20148360;20200332;20214802;20379614;20453000;20734064;21877158;21900597;22546946 3294 H3BNN1;H3BQY3;H3BRZ6;H3BS44;H3BV42;P37059 ABBA01016950;ABBA01016951;ABBA01016952;AC092142;AK223001;AK313109;AMYH01007855;AU139034;AY325910;BC009581;BC059170;BM670647;BP270993;CH471114;L11708;L40802;NM_002153 AAA03562;AAC41917;AAH09581;AAH59170;AAP78485;ABM84026;ABM87371;BAD96721;BAG35931;EAW95519;NP_002144;P37059 Hs.162795 1688921;1738599;1744773;2128798;2153273;2156014 D16S2749;D16S3306;GDB:568470;RH65145;RH69006;SHGC-61197 EDH17B2;HSD17;SDR9C2 17-beta-HSD 2;17-beta-hydroxysteroid dehydrogenase type 2;20 alpha-hydroxysteroid dehydrogenase;20-alpha-HSD;E2DH;OTTHUMP00000174979;estradiol 17-beta-dehydrogenase 2;microsomal 17-beta-hydroxysteroid dehydrogenase;short chain dehydrogenase/reductase family 9C, member 2;testosterone 17-beta-dehydrogenase protein-coding ENSG00000086696 5211 00186 109685 VALIDATED 1343430 HSD3BP2 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 1 1 1 p13.1 118211935 118219887 + 119782960 119790745 + 119981174 119989129 + 10552929;10552929;7588414 440606 ABBA01068514;AL359553;AMYH01000979;NG_005676;S80140 AAD14329 1797714;2149441 AL009745;HSD3B1__1178 pseudo 5220 INFERRED 1352915 HSD3BP1 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 1 1 1 p13.3 118240592 118247176 + 119811370 119817949 + 120009838 120016423 + 10552929;10552929 391076 ABBA01068514;AL359553;AMYH01000979;NG_022802 pseudo 5219 INFERRED 1348084 HSD3BP3 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 1 1 1 p13.1 118311855 118319443 + 119882658 119890234 + 120081132 120088711 + 10552929;10552929 441900 ABBA01068514;AL121995;AMYH01000979;NG_027848 2125223 AL009778 pseudo 5221 INFERRED 1350891 HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 1 1 1 p13.1 118337236 118345931 + 119912039 119912199 + 120106503 120115199 + 10552929;10552929;7588414;7603471 128102 Q99889 ABBA01068515;AF252254;AL109966;AMYH01000979;NR_033781;S80139 AAD14328;AAM08704 Hs.681806 5020961 HSD3B pseudo 5222 VALIDATED 1343192 HSD3BP5 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 1 1 1 p13.1 118374611 118382807 + 119945486 119953637 + 120143876 120152072 + 6480464 10552929;10552929 391081 ABBA01068516;AL109966;AMYH01000979;NG_022803 pseudo 5223 INFERRED 1351353 HSD17B8 hydroxysteroid (17-beta) dehydrogenase 8 In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008] 6 6 p21.3 33280397 33282585 + 33172414 33174608 + 1580863;6480464;6907045 19343046;19027726;18794456;17978863;17583490;16930994;16381901;15489336;15489334;14574404;12477932;12136098;11165015;11076863;9712896;9205114;8812499;19913121;20587610;20628086;20877624;18852215;19571038;19851445;20214802;22145905 7923 Q92506 ABBA01038138;AJ328015;AL031228;AL645940;AL662824;AL713971;AL844527;AMYH01016242;AW025057;BC008185;BT007239;CH471081;CR759733;CR759786;CR847841;D82061;D84401;HY167181;NM_014234 AAH08185;AAP35903;BAA11529;CAC38444;CAL38385;EAX03682;NP_055049;Q92506 Hs.415058 1794594;2114924;2157964;2189413;2189729;2191707;2218010 M2_2_9;MARC_5283-5284:991939549:1;MARC_5413-5414:996690360:2;PMC321570P8;RH66534;SHGC-31083;SLC39A7_3898 D6S2245E;FABG;FABGL;H2-KE6;HKE6;KE6;RING2;SDR30C1;dJ1033B10.9 17-beta-HSD 8;17-beta-hydroxysteroid dehydrogenase 8;3-oxoacyl-[acyl-carrier-protein] reductase;OTTHUMP00000029153;beta-ketoacyl-[acyl-carrier-protein] reductase-like;estradiol 17-beta-dehydrogenase 8;estrogen 17-oxidoreductase;ke-6;protein Ke6;really interesting new gene 2 protein;short chain dehydrogenase/reductase family 30C, member 1;testosterone 17-beta-dehydrogenase 8 APPROVED protein-coding ENSG00000204228 3554 03248 601417 REVIEWED 1347893 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 1 1 p13.1 119851349 119859204 + 120049826 120057681 + 1580863;1626438;4889549;1599701;4889559;634234;6480464;6907045 12054649;15583024;16116051;8027581;8576131 1944309;8274411;19429456;19336370;19197249;19148546;19027726;18955108;18778748;18723074;18676680;18636124;18524572;18281655;18223326;17826523;17689071;17627014;17624763;17589376;17507624;16302261;15797861;15489334;15291757;15291746;15097232;14764797;12832414;12530676;12530651;12477932;12438565;12205101;12050213;11912155;11174850;10810285;10391209;10067877;8908375;8043598;7673125;2779585;2243100;2139411;2082186;2066113;1920284;1737804;1673569;1401999;20420909;19170196;19414525;19453261;19505920;19574343;19625176;19692168;20056642;20086173;20184498;20214802;20453000;20729390;20734064;20877624;19913121;20628086;20634197;20660004;2770297;23318910;21631238;22673022;21932034;22638611;23122578 3283 E9PRN7;P14060;Q5TDG2 ABBA01068514;AK291556;AL121995;AL544564;AMYH01000979;BC031999;CH471122;HC007030;M27137;M28392;M35493;M38180;M63397;NM_000862;S45679;X53321;X55997 AAA36001;AAA36015;AAA51538;AAA51662;AAA51831;AAB23543;AAH31999;ABM82087;ABM85268;BAF84245;CAA37408;CAA39469;CBH19320;EAW56703;EAW56704;NP_000853;P14060 Hs.364941 1670304;1677152;1741137;1741749;1797714;2136513;2173929;2181187;5020961 D1S2396;D1S3292;GDB:178350;GDB:182602;HSD3B;HSD3B1__1178;RH28;SHGC-75403;SHGC-75404 3BETAHSD;HSD3B;HSDB3;HSDB3A;I;SDR11E1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1;3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I;3-beta-HSD I;3-beta-hydroxy-5-ene steroid dehydrogenase;3-beta-hydroxy-Delta(5)-steroid dehydrogenase;OTTHUMP00000014488;OTTHUMP00000234748;delta-5-3-ketosteroid isomerase;hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1;progesterone reductase;short chain dehydrogenase/reductase family 11E, member 1;steroid Delta-isomerase;trophoblast antigen FDO161G 1643449 BW98_H protein-coding ENSG00000203857 5217 04920 109715 VALIDATED 731284 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. [provided by RefSeq, Jul 2008] 5 5 q21 118816122 118905923 + 118788138 118878030 + 1599968;1580863;1300048;6480464;6907045;7240710 9345094 8902629;9880674;17220478;7487879;19100308;19027726;18794456;18676680;18415690;18281655;18086758;16766224;16385454;16344560;15644212;15635413;15489334;14702039;12477932;11992265;11964182;11743515;11700068;10419023;10402265;10400999;10343282;10199776;9915948;9783542;9482850;9197465;9133619;9089413;8938456;8547189;8279468;2921319;2303409;19913121;20628086;20634197;20562859;20734064;20877624;20673864;20949532;20566640;16756494;19170196;19453261;19574343;19598235;19625176;19627379;19692168;19776291;20214802;20453000;17893145;22939629;23308274;16196087;18029348;22623531;21525035;21988832;22002062;22751105;23000965;23313254;20178365;18781797;21139048;15599942;22265031;23181892;19380743 3295 B2R659;E7EPL9;E7ER27;E7ET17;E7EWE5;G5E9S2;P51659 ABBA01068976;AC024564;AF057720;AF057721;AF057722;AF057723;AF057724;AF057725;AF057726;AF057727;AF057728;AF057729;AF057730;AF057731;AF057732;AF057733;AF057735;AF057736;AF057737;AF057738;AF057739;AF057740;AK094049;AK293254;AK295440;AK298075;AK299685;AK301212;AK308968;AK312449;AMYH01015576;BC003098;CH471086;CX782401;DA296575;DA426062;DA508630;DC325873;NG_008182;NM_000414;NM_001199291;NM_001199292;X87176;Y11393 AAD08652;AAH03098;ABM82792;ABM85981;BAG35356;BAG52804;BAG56786;BAG58380;BAG60363;BAG61592;BAG62787;CAA60643;CAA72203;EAW48910;EAW48911;NP_000405;NP_001186220;NP_001186221;P51659 Hs.406861 1339573;1664769;1797712;2132612;2132614;2179611;5109681 A001X47;D5S1384;D8S1438E;G19767;HSD17B4_2652;STS-X87176;WI-11223 DBP;MFE-2;MPF-2;PRLTS1;SDR8C1 17-beta-HSD 4;17-beta-HSD IV;17-beta-hydroxysteroid dehydrogenase 4;17beta-estradiol dehydrogenase type IV;3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase;D-3-hydroxyacyl-CoA dehydratase;D-bifunctional protein, peroxisomal;OTTHUMP00000159141;OTTHUMP00000222964;OTTHUMP00000222965;OTTHUMP00000222966;OTTHUMP00000222967;OTTHUMP00000222969;OTTHUMP00000236920;beta-hydroxyacyl dehydrogenase;beta-keto-reductase;multifunctional protein 2;peroxisomal multifunctional enzyme type 2;peroxisomal multifunctional enzyme type ii;peroxisomal multifunctional protein 2;short chain dehydrogenase/reductase family 8C, member 1 1643508 BW262_H APPROVED protein-coding ENSG00000133835 5213 03514 233400;261515;601860 VALIDATED 735953 HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7 HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010] 1 1 q23 161027120 161049232 + 162760496 162782608 + 1580863;1300048;6480464;6907045 11969204;10544267;19027726;19019335;18660489;17498944;17454161;16901934;16356630;15862973;15489334;14702039;12975309;12829805;12732193;12477932;10419022;3855619;20140262;19429442;19460435;19536175;20214802;20215536;21086175;21372145;21139048;21890473;21906983;21103663;21988832;23000965;23300627 51478 F2Z2C2;P56937;Q5T248;Q5T249;Q5T250 ABBA01047303;AF098786;AF145023;AF162759;AF162760;AF162761;AF162762;AF162763;AF162764;AF162765;AF162766;AF162767;AJ249179;AJ250550;AK022929;AK290741;AL392003;AL445197;AMYH01001465;AY358962;BC007068;BC065246;BT007075;CH471067;NM_016371 AAF09266;AAF14537;AAH07068;AAH65246;AAP35738;AAP97275;AAQ89321;ACT64500;ACT64501;BAB14312;BAF83430;CAC20418;CAC88111;EAW90716;EAW90720;NP_057455;P56937 Hs.492925 1788688;5022322 D11S2560;RH115827 MGC12523;MGC75018;PRAP;SDR37C1 17 beta-hydroxysteroid dehydrogenase type VII;17-beta-HSD 7;17-beta-hydroxysteroid dehydrogenase 7;17beta hydroxysteroid dehydrogenase;3-keto-steroid reductase;OTTHUMP00000032328;estradiol 17-beta-dehydrogenase 7;short chain dehydrogenase/reductase family 37C, member 1 APPROVED protein-coding ENSG00000132196 5215 05996 606756 VALIDATED 1318588 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 p13.1 119759296 119767174 + 119957554 119965662 + 1625114;1625113;1580863;4761326;4888511;4889108;4889549;4889596;4833436;4889527;4889107;4145934;2325883;632873;634234;6480464;6907045;7240710 14764821;8284113;19228890;11739466;18180323;15583024;2149342;17880366;17244746;18481435;19698287;18821018;12648755;8576131 15585552;15498889;15489334;15208301;15131259;14764797;14671206;12530651;12477932;12205101;12050213;11912155;11287026;10843183;10651755;10599696;9719627;8943802;8316254;8185809;1944309;19059462;19027726;19022561;18778748;18676680;18636124;18524572;18505908;18252794;18000308;17823934;17689071;17589376;17507624;17220347;16846535;16710414;16648810;15928316;15767343;15615861;8126127;8125298;8060486;7962268;7893703;7833923;7633460;7633426;7608265;2066113;1741954;1363812;295036;15342556;19158234;19170196;19414525;19453261;19505920;19574343;19625176;19692168;20453000;2243100;20734064;19913121;20628086;20634197;20660004;22356824;21185375;21930695;22262841;22106846;22638611;23450050;23284679 3284 P26439;Q5QP01 ABBA01068514;AK222997;AK313413;AL359553;AMYH01000979;AV705363;BC038419;BC131488;BP197992;CF596786;CH471122;M67466;M77144;NG_013349;NM_000198;NM_001166120;S60309;S60310 AAA36014;AAA36016;AAC60599;AAC60600;AAH38419;AAI31489;ABM82690;ABM85874;BAD96717;BAG36207;EAW56700;EAW56701;EAW56702;NP_000189;NP_001159592;P26439 Hs.654399 1743137;1761371;1768951;1857979;5020961 GDB:270565;HSD3B;SGC35274;SHGC-145388;SHGC-75401 HSD3B;HSDB;SDR11E2 3 beta-HSD type II;3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II;3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2;3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II;3-beta-HSD II;3-beta-HSD adrenal and gonadal type;3-beta-hydroxy-5-ene steroid dehydrogenase;3-beta-hydroxy-Delta(5)-steroid dehydrogenase;OTTHUMP00000014489;OTTHUMP00000014490;delta 5-delta 4-isomerase type II;progesterone reductase;short chain dehydrogenase/reductase family 11E, member 2 1643449 BW98_H APPROVED protein-coding ENSG00000203859 5218 01941 201810;613890 REVIEWED 734010 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 16 16 16 p11.2 29296983 29300937 - 30904033 30907972 + 30996519 31000473 + 737780;1599971;6480464;6907045;7240710 11067870;12679481 19027726;16344560;16341674;15489334;14702039;12477932;20531254;21044367;23088713;22095780;21906983 80270 I3L2H6;I3L2Q9;Q9H2F3 ABBA01042073;AC135048;AF277719;AK057436;AK290950;AK292068;AMYH01007501;BC004929;BM744211;CA413388;CH471192;DB336146;NG_012346;NM_001142777;NM_001142778;NM_025193 AAG37824;AAH04929;ABW03858;ABW03859;BAB71486;BAF83639;BAF84757;EAW52183;NP_001136249;NP_001136250;NP_079469;Q9H2F3 Hs.460618 1678255;1684435;1685219;1793862 PMC301421P1;RH12292;RH70099;RH78319 CBAS1;PFIC4;SDR11E3 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase;3 beta-hydroxysteroid dehydrogenase type 7;3 beta-hydroxysteroid dehydrogenase type VII;3-beta-HSD VII;3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase;C(27)-3BETA-HSD;OTTHUMP00000163254;c(27) 3-beta-HSD;cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase;short chain dehydrogenase/reductase family 11E, member 3 APPROVED protein-coding ENSG00000099377 18324 09680 607764;607765 REVIEWED 1354077 HSDL1 hydroxysteroid dehydrogenase like 1 16 16 16 q23.3 68457660 68480593 - 82713389 82736265 - 84155744 84178800 - 6480464 17353931;19027726;19026618;14702039;12477932;12153137;8125298;20877624;21139048;21890473;21906983 83693 H3BNH5;H3BQI7;H3BT52;I6L975;Q3SXM5 ABBA01016918;ABBA01016919;ABBA01016920;AC040169;AF237684;AK025626;AK074878;AK098199;AK299798;AMYH01007867;AY028377;BC018084;BC104218;BC104219;BC106917;CH471114;CQ782843;DB525323;DC306668;H40440;NM_001146051;NM_031463 AAH18084;AAI04219;AAI04220;AAI06918;AAK15047;AAK16927;BAC11262;BAG61674;CAF86070;EAW95502;EAW95503;EAW95504;NP_001139523;NP_113651;Q3SXM5 Hs.555992 2123294;2175981;2182133 SHGC-36075;SHGC-60738;SHGC-60843 MGC125994;MGC125995;MGC126032;SDR12C3 OTTHUMP00000174987;inactive hydroxysteroid dehydrogenase-like protein 1;short chain dehydrogenase/reductase family 12C, member 3;steroid dehydrogenase-like protein protein-coding ENSG00000103160 16475 17117 VALIDATED 1350650 HSDL2 hydroxysteroid dehydrogenase like 2 9 9 9 q32 85641314 85733588 + 114182172 114274505 + 115142189 115234685 + 1580863;6480464 19027726;14702039;12834046;12477932;8125298;16344560;16501878;18369455;19703561;20583170;20877624;21139048;21890473 84263 B4DWC7;B4E136;Q6YN16 ABBA01042699;ABBA01042700;ABBA01042701;ABBA01042702;ABBA01042703;ABBA01042704;ABBA01042705;AK090940;AK098721;AK225946;AK289929;AK292486;AK301469;AK303645;AK313605;AL162732;AL833735;AMYH01021645;AY093428;BC004331;BC036620;BC047074;BC095451;CH471105;DB052480;HH961796;NM_001195822;NM_032303;NR_036651 AAH04331;AAH95451;AAM14670;BAF82618;BAF85175;BAG36370;BAG62989;BAG64648;CAH56256;CBX51371;EAW59104;EAW59105;EAW59106;EAW59107;NP_001182751;NP_115679;Q6YN16 Hs.59486 1735870;1855948;2123705;2160220;2162237 A004Y48;D9S2084;D9S996E;RH45928;SHGC-58384 C9orf99;FLJ25855;MGC10940;SDR13C1 OTTHUMP00000021934;OTTHUMP00000021935;hydroxysteroid dehydrogenase-like protein 2;short chain dehydrogenase/reductase family 13C, member 1 protein-coding ENSG00000119471 18572 13679 VALIDATED 1349418 HSF2BP heat shock transcription factor 2 binding protein HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30055601 30185204 - 43773500 43903802 - 44949072 45079374 - 1580863;6480464 9651507;16780588;15489334;12477932;10830953;20379614;21675959;17709345;21900206 11077 B4DX36;C9JSF2;O75031;Q6IAT7 AB007131;ABBA01074123;ABBA01074124;ABBA01074125;ABBA01074126;ABBA01074127;ABBA01074128;ABBA01074129;ABBA01074130;ABBA01074131;AK301795;AK314121;AMYH01012278;AMYH01012279;AP001050;AP001051;AP001052;AP001751;AP001752;BC000153;CH471079;CR457067;NG_011491;NM_007031 AAH00153;ABZ92301;BAA31967;BAA95537;BAA95539;BAG36812;BAG63248;CAG33348;EAX09485;EAX09486;NP_008962;O75031 Hs.406157 1684375;1790605;2126683;2126823;2156356;2176313;2220456 067XD7;D21S1988;G34630;RH92007;STS_CEB241;UniSTS:482788;UniSTS:494853 OTTHUMP00000109450;OTTHUMP00000109451;heat shock factor 2-binding protein APPROVED protein-coding ENSG00000160207 5226 05186 604554 REVIEWED 1604244 HSF5 heat shock transcription factor family member 5 17 17 17 q22 52959318 53027557 - 53852528 53920758 - 56497529 56565759 - 6480464 12477932 124535 Q4G112 ABBA01041335;ABBA01041336;ABBA01041337;AC005666;AC023992;AL137385;AMYH01008512;AMYH01008513;BC033017;BC033020;BC115385;BC115386;HC007032;NM_001080439 AAH33017;AAH33020;AAI15386;AAI15387;CBH19321;NP_001073908;Q4G112 Hs.380061 1680369;1693840;1728991;1740027;1794010;2108269;2121331;2145864;5127473 AA596759;D17S1363E;D17S1780;G06215;G42608;MTMR4_8899;PMC310730P1;RH98431;STS-H68355 FLJ40311;HSF 5;HSTF 5;MGC134827 heat shock factor protein 5;heat shock transcription factor 5 protein-coding ENSG00000176160 26862 PROVISIONAL 1342854 HSFY1P1 heat shock transcription factor, Y-linked 1 pseudogene 1 22 22 22 930637 932499 + 15688364 15690225 + 17308364 17310225 + 11381032 27437 ABBA01001462;AC007064;AMYH01012421;AY026053;NR_003607 Hs.143955 CECR8;HSFYL1;HSFYP1;NCRNA00016 APPROVED pseudo ENSG00000229027 1846 PROVISIONAL 1321924 HSF4 heat shock transcription factor 4 Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008] 16 16 q21 65754858 65761349 + 67197288 67203848 + 1599774;1580863;6480464;7240710 12089525 21258402;8972228;19014451;18941546;16876512;16552721;16344560;16341674;15959809;15308659;15277496;12477932;10737800;10488131;8125298;20564821;19913121;20628086;16581800;20670914;22587838;16147992;21792930;21098080;21900206;22103961;23329665 3299 E5RG51;E5RHY0;E5RJV4;E5RK26;E7EWW4;H0YAR7;H0YAU2;H0YBG9;H0YBS6;H0YBT7;H0YC14;H0YC39;Q9ULV5 AB029347;AB029348;ABBA01025431;ABBA01025432;AC074143;AK225152;AK293631;AK296210;AK307211;AK308638;AMYH01007745;BC130383;BG980713;BI001524;BM768246;BM805441;BX348481;CA412687;CH471092;D87673;DA111974;DA372008;NG_009294;NM_001040667;NM_001538 AAI46447;AAI53062;BAA13433;BAA84581;BAA84582;BAG57087;BAG58936;EAW83083;EAW83084;EAW83085;EAW83086;NP_001035757;NP_001529;Q9ULV5 Hs.512156;Hs.710714 CTM;CTRCT5 HSF 4;HSTF 4;OTTHUMP00000224686;OTTHUMP00000224689;OTTHUMP00000224691;OTTHUMP00000224692;OTTHUMP00000224693;OTTHUMP00000224694;hHSF4;heat shock factor protein 4 APPROVED protein-coding ENSG00000102878 5227 03896 116800;602438 REVIEWED 2311617 HSFY3P heat shock transcription factor, Y-linked 3, pseudogene Y Y Y p11.31 88938794 88940968 - 2809649 2811693 - 2749606 2751780 - 9847074 442479 ABBA01069758;AC006040;NG_012371 HSFYP2 APPROVED pseudo 37119 INFERRED 2802462 HSFY4P heat shock transcription factor, Y-linked 4, pseudogene Y Y Y q11.223 7677613 7712425 - 21380050 21414862 - 22970662 23005474 - 9847074 643987 ABBA01057478;ABBA01057479;ABBA01057480;ABBA01057481;ABBA01057482;ABBA01057483;AC009494;NG_016562 1697698;2189021 G65893;RH102365 pseudo 37721 INFERRED 68578 HSF2 heat shock transcription factor 2 The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 6 6 q22.31 122762494 122795810 + 122720696 122754264 + 1580863;6480464 1871106;19129477;19017645;18978678;18570919;18211895;17915561;17688198;17213196;16428449;16344560;15662014;15489334;14699143;14574404;12865437;21258402;12813038;11278381;12477932;11795475;10224043;9651507;9367915;9118008;8339932;8125298;1717345;19768582;20379614;10561509;18029348;20360068;20937767;21792930;19471022;21139048;21693764;21890473;21906983;22318606;23064888 3298 Q03933;Q9BS48 ABBA01025985;AK225593;AK225594;AK294624;AK316377;AL121954;AMYH01016635;BC005329;BC064622;BC112323;BC121050;BC121051;BC128420;CH471051;CS542427;DA741774;DQ492684;M65217;NG_029607;NM_001135564;NM_001243094;NM_004506;Z99129 AAA36017;AAH05329;AAH64622;AAI12324;AAI21051;AAI21052;AAI28421;ABF47087;ABZ92426;BAG57805;BAH14748;CAM91163;EAW48174;EAW48175;EAW48176;EAW48177;NP_001129036;NP_001230023;NP_004497;Q03933 Hs.158195 1643752;1694174;2167311;2170196;2217452 AL008748;D6S1429;D6S2058;HSF2_3997;STS-M65217 HSF 2;HSTF 2;MGC117376;MGC156196;MGC75048 OTTHUMP00000017845;heat shock factor 2;heat shock factor protein 2 APPROVED protein-coding ENSG00000025156 5225 00779 140581 REVIEWED 1348679 HSFY2 heat shock transcription factor, Y linked 2 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Y Y q11.222 19352714 19395009 - 20893326 20935621 - 737633 12477932 15489334;15044259;14985478;14702039;12815422 159119 Q96LI6 ABBA01073681;ABBA01073682;AC007379;AK058182;NG_004636;NM_001001877;NM_153716;NR_003509 AAI48446;AAI53036;ADR83170;BAB71706;NP_001001877;NP_714927;Q96LI6 Hs.592255 1662640;1676142;2113594;2169195;2188625;5115872;5116100;5116102;5116106 DYS208;DYS209;G66365;RH93149;sY1119;sY1237;sY1946;sY1947;sY1949 FLJ25453;HSF2L;HSFY;HSFY1 HSF2-like;OTTHUMP00000038974;OTTHUMP00000038975;heat shock transcription factor 2-like protein;heat shock transcription factor, Y-linked APPROVED protein-coding ENSG00000169953 23950 13680 REVIEWED 730995 HSF1 heat shock transcription factor 1 The product of this gene is a heat-shock transcription factor. Transcription of heat-shock genes is rapidly induced after temperature stress. Hsp90, by itself and/or associated with multichaperone complexes, is a major repressor of this gene. [provided by RefSeq, Jul 2008] 8 8 q24.3 145486078 145509193 + 145515270 145538385 + 1580863;6480464 21330448;11005381;1871105;10821850;18029348;19486883;19338268;19335068;19229036;19129477;19097133;18813348;18725048;18682744;18657505;18474607;18457423;18398426;18286539;17922035;17897941;17889646;17873279;17273789;17244614;17216044;17213196;17081983;16678833;16624816;16525201;16428449;16382149;16344560;16303760;16293251;16278218;16051598;15777846;15760475;15702990;15661742;15489334;15457556;15364926;15358168;15302935;15152009;15081420;14960326;14766217;14707147;14702039;14699143;12917326;12878154;12865437;12813038;12665592;12659875;12646186;12621024;12477932;12468538;11994473;11877455;11851405;11820785;11801594;11583998;11527157;11486022;11447121;11162511;10867642;10747973;9880553;9727490;9699716;9649501;9499401;9359875;9325337;9222609;8940068;8856972;8125298;7639722;1871106;1628823;14751250;16169070;9155018;20630999;20459615;15016915;15576338;17884799;19221897;19401454;19517141;19597476;19609719;19668225;19758120;19793920;19817876;19844581;20152833;20176657;20185824;20198330;20396959;20834230;21361146;21078672;21085490;21098017;21266308;21299508;20941531;21044828;23344957;21480956;21784850;20353823;21253609;21353370;21557666;20360068;21079652;21883218;22945628;23824909;23869022;22266185;22009757;21879256;22018489;18059335;22042860;14532117;22347460;19471022;18211895;19684601;20885985;21890473;21988832;22094256;22940245;23000965;21139048;21693764;10561509;21155232;22939629;22981541;18794143;22863008;22863883;23192351;22443056;23510323;23349863;23542779;18451878;23022381;23121022;23386620;23252346;17622316;21459854;22768106;22510478 3297 E9PI02;E9PMQ6;Q00613 ABBA01005216;AC110280;AC142402;AC233992;AF205589;AF299094;AK054762;AK125467;AK126580;AK222497;AK290975;AK300205;AMYH01019146;AMYH01019147;BC014638;BT007351;CH471162;CS542425;DA481620;M64673;NM_005526 AAA52695;AAG23698;AAH14638;AAP36015;ABM84785;BAD96217;BAF83664;BAG51421;BAG54202;BAG61976;CAM91162;EAW82131;NP_005517;Q00613 Hs.530227 1679033;1733652;1771432;2151105 D15S621E;HSC2HB072;RH79683;STS-M64673 HSTF1 HSF 1;HSTF 1;OTTHUMP00000228553;OTTHUMP00000228555;heat shock factor protein 1 APPROVED protein-coding ENSG00000185122 5224 00778 140580 REVIEWED 1605081 HSFX1 heat shock transcription factor family, X linked 1 X X q28 148481974 148663581 + 148855726 148858517 + 16713569;15044259;12477932;11181995;15489334;20388717;11256614 100506164 Q9UBD0 AC016939;AC232272;AC244098;AF139980;AK310305;BC021706;CH471169;NM_016153 AAD45879;AAH21706;ABM84571;ABW03316;EAW99371;NP_057237;Q9UBD0 Hs.656936;Hs.709146 1671528;1850278;5017913 RH11223;TMEM185A;WI-12227 FLJ17347;HSFX2;LW-1;MGC26102 OTTHUMP00000024213;heat shock transcription factor, X-linked protein-coding ENSG00000171116 29603 VALIDATED 1348010 HSP90AA3P heat shock protein 90kDa alpha (cytosolic), class A member 3, pseudogene 1 1 1 q23.1 131564446 131567313 + 156759985 156762994 + 158493403 158496270 + 16269234;1740332 3322 ABBA01016626;AL365440;AMYH01001443;NG_005218 HSPCAL1 heat shock 90kda protein 1, alpha-like 1 APPROVED pseudo 5254 INFERRED 1316342 HSP90AA2 heat shock protein 90kDa alpha (cytosolic), class A member 2 HSP90 proteins are highly conserved molecular chaperones that have key roles in signal transduction, protein folding, protein degradation, and morphologic evolution. HSP90 proteins normally associate with other cochaperones and play important roles in folding newly synthesized proteins or stabilizing and refolding denatured proteins after stress. HSP90AA2 is a cytosolic HSP90 protein. Other HSP90 proteins are found in endoplasmic reticulum (HSP90B1; MIM 191175) and mitochondria (TRAP1; MIM 606219) (Chen et al., 2005 [PubMed 16269234]). See HSP90AA1 (MIM 140571) for further information on HSP90 proteins.[supplied by OMIM, Aug 2008] 11 11 p14.1 27866201 27869315 - 27909718 27912639 - 1580863;6480464 22552610;19383717;19234166;19130193;19091746;18798074;17724475;16269234;15146192;2591742;1740332;14743216;21145461;22753480;17643375;20170530;20694586;20558142;18559531;20937816;21127066;21519806;22939629;21906983;22935040;23589305 3324 Q14568 ABBA01060964;AC103796;AMYH01003457;M30627;NG_005856 AAA36024;Q14568 Hs.523560 1688714;1742703;2145219;2219148 D3S4173;GDB:201870;HSPCAL3__6605;RH78019 HSP90ALPHA;HSPCA;HSPCAL3 heat shock 90kda protein 1, alpha-like 3 APPROVED pseudo 5256 140575 INFERRED 1625803 HSFX2 heat shock transcription factor family, X linked 2 X X q28 148481974 148663581 - 148674172 148676974 - 11256614;15489334;15044259;12477932 100130086 E5RG41;Q9UBD0 ABBA01049646;AC016940;AC233288;AC244197;AF139980;AF139981;AF139982;AK310305;AMYH01023193;BC021706;NM_001164415 AAD45879;AAD45880;AAH21706;NP_001157887;Q9UBD0 Hs.656936;Hs.709146 1671528;1744949;1751105;1760459;1775339;1850278;2140637;2169432;5017913 A006O30;GDB:581735;RH11223;RH15882;SGC35635;SHGC-105011;SHGC-143094;TMEM185A;WI-12227 FLJ17347;HSFX1;MGC26102 OTTHUMP00000226741;heat shock transcription factor, X-linked protein-coding ENSG00000171129 32701 VALIDATED 1606064 HSP90AA6P heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene 4 4 4 q33 168833574 168857435 - 171739095 171763136 - 171502621 171526135 - 6480464 16269234 441051 Q58FF9 ABBA01070349;AC096571;AC096714;AMYH01014708;AY956762;NG_025183;NR_036751 AAX38249 Hs.729423 HSP90Af APPROVED pseudo ENSG00000181359 32536 VALIDATED 1348889 HSP90AA4P heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene 4 4 4 q35.2 187687339 187689818 + 190630954 190633440 + 190394299 190396344 + 6480464 16269234;9847074;1740332;21906983;22178446;22863883;22939629;21853274 3323 Q58FG1 ABBA01070606;AC020698;AMYH01014800;AY956760;NG_003014;NR_036692 AAX38247;Q58FG1 Hs.553481 HSP90Ad;HSPCAL2 heat shock 90kda protein 1, alpha-like 2 APPROVED pseudo ENSG00000205100 5255 VALIDATED 1313876 HSH2D hematopoietic SH2 domain containing T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008] 19 19 19 p13.12 16146791 16171332 + 16105838 16130381 + 16244838 16269381 + 737633;1580863;6480464 12477932 16169852;15489334;15284240;14702039;12960172;11700021;19913121;20628086;20080636;20237496;20471366;21988832 84941 B4DT26;H7BYQ7;K7EKI5;K7EP18;K7EPX4;K7ER77;K7ERI2;K7ES08;Q96JZ2 ABBA01051130;ABBA01051131;AC008894;AC020911;AK027792;AK131222;AK298682;AK300027;AK307563;AMYH01009558;AY319652;BC016826;BC025237;CH471106;NM_032855 AAH16826;AAH25237;AAQ81285;ABM83091;ABM86285;BAB55372;BAD18408;BAG60845;BAG61838;EAW84528;EAW84529;EAW84530;EAW84531;EAW84532;NP_116244;Q96JZ2 Hs.631617 1700032;2110691;2125414;2185812;5024039;5109281 D16S325;D1S1425;RAB8A_8465;RH103628;RH78768;SHGC-36999 ALX;FLJ14886;HSH2 adaptor in lymphocytes of unknown function X;hematopoietic SH2 domain-containing protein;hematopoietic SH2 protein APPROVED protein-coding ENSG00000196684 24920 12219 608349 PROVISIONAL 1605779 HSP90AA5P heat shock protein 90kDa alpha (cytosolic), class A member 5, pseudogene 3 3 3 q27.1 182275899 182278060 + 185316461 185318379 + 183833630 183835791 + 6480464 16269234;22939629;22360420;21906983;23251661 730211 Q58FG0 ABBA01058461;AC131235;AMYH01013710;AY956761;NG_005673 AAX38248;Q58FG0 Hs.581644 5113918 RH75563 HSP90Ae APPROVED pseudo 32535 INFERRED 1347187 HSN2 hereditary sensory neuropathy, type II This intronless gene is poorly expressed and lies within an intron of WNK1 gene (GeneID:65125) on chr 12. Mutations in this gene are associated with hereditary sensory and autonomic neuropathy, type II, an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. It is proposed that this gene product may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. [provided by RefSeq] 12 p13.3 847257 848561 + 1303985;7240710 15060842 8889549;19651702;18521183;16713569;16541075;16534117;15911806;15455397;12477932;4351257 378465 AC004765;BC130467;BC130469;BJ997509;BK004108;N57692;NG_007984;NM_213655 AAI30468;AAI30470;DAA04494;NP_998820;Q6IFS5 Hs.656067;Hs.701055 HSAN2 protein-coding 23152 10553 201300;614492 1606854 HSP90AB5P heat shock protein 90kDa alpha (cytosolic), class B member 5, pseudogene 3 3 3 p13 74085842 74088288 + 74233089 74235500 + 74150457 74152906 + 6480464 16269234 442083 ABBA01030975;AC016930;AMYH01013285;AY956766;NG_005680 Hs.627167 HSP90BE APPROVED pseudo 32539 VALIDATED 1348468 HSP90AB3P heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene 4 4 4 q22.1 86102606 86105129 + 89031835 89034580 + 88812995 88815167 + 16269234;9847074;8288256;19801982;22939629;21906983;22174851;21853274 3327 Q58FF7 ABBA01063539;AC093768;AMYH01014381;AY956764;NG_003015;NR_036694 AAX38251;Q58FF7 Hs.744112 1744327;2189467 GDB:451694;MARC_6805-6806:992007483:1 HSP90BC;HSPCP1 heat shock 90kda protein 1, beta pseudogene 1 APPROVED pseudo 5259 VALIDATED 7176134 HSP90AB7P heat shock protein 90kDa alpha (cytosolic), class B member 7, pseudogene 10 p14 9763727 9766468 - 644495 ABBA01034709;AL157401;AMYH01002020;NG_022139 1753873 SHGC-108053 pseudo 44701 INFERRED 1602950 HSP90AB2P heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene 4 4 4 p15.33 13801251 13806138 + 12944135 12949023 + 13335037 13339925 + 6480464 16507910;16288044;16269234;21145461;22863883;20811636;22939629;21726808;21890473;21906983;22178446;21628590;23251661;23349634 391634 Q58FF8 ABBA01032543;AC006226;AMYH01014007;AY956763;NG_032979;NR_003132 AAX38250;Q58FF8 Hs.590925 5015509 WI-8585 HSP90BB APPROVED pseudo 32537 11811 VALIDATED 1604670 HSP90AB6P heat shock protein 90kDa alpha (cytosolic), class B member 6, pseudogene 13 13 13 q32.1 78383335 78388857 - 96333996 96340167 - 97535897 97541419 - 6480464 16269234;21906983 541611 Q58FF4 ABBA01027168;AL353581;AMYH01005311;AY956767;NG_005682 AAX38254 Hs.627166 HSP90Bf APPROVED pseudo 32540 VALIDATED 1351324 HSP90B3P heat shock protein 90kDa beta (Grp94), member 3, pseudogene 1 1 1 p22.1 90347253 90356020 + 91873156 91881923 + 92100568 92109335 + 16269234;20395239;15485837 343477 ABBA01045564;ABBA01045565;AC099334;AMYH01000790;AY956769;NG_032978;NR_003130 AAX38256 Hs.591435 1790367 TRA1 GRP94C;TRA1P2;TRAP2 APPROVED pseudo ENSG00000203914 12100 VALIDATED 1347885 HSP90B2P heat shock protein 90kDa beta (Grp94), member 2, pseudogene 15 15 15 q26.3 76216821 76219453 + 97615572 97617847 + 99797849 99800481 + 16269234;23383273;21906983 7190 Q58FF3 ABBA01020556;AC022819;AMYH01006966;AY956768;NR_073383;R13549 AAX38255;Q58FF3 Hs.656611 1682075;1774769;1790367;2142637;2191525 MARC_26038-26039:1032450563:1;RH67937;STS-H99801;STS-X15187;TRA1 GRP94P1;GRP94b;HSP;HSPCP2;HsGrp94b;TRA1P1;TRAP1 tumor rejection antigen (gp96) 1 pseudogene 1 APPROVED pseudo 12099 VALIDATED 1602939 HSP90AB4P heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene 15 15 15 q22.1 35871234 35873256 - 56770594 56772616 - 58983302 58985324 - 16269234;21139048;21906983;10737800;16344560 664618 Q58FF6 ABBA01038983;AC091046;AMYH01006680;AY956765;CV393081;DB113910;DB449567;NR_002927;NR_073415 AAX38252;Q58FF6 Hs.670224 5015509 WI-8585 HSP90Bd;HsHsp90Bd APPROVED pseudo 32538 VALIDATED 1323575 HSFY1 heat shock transcription factor, Y-linked 1 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] Y Y Y q11.222 6839479 6881754 + 19167962 19210237 + 20708574 20750849 + 15489334;15044259;14985478;14702039;12815422;12477932;22820855;23088713;22158087;20301513 86614 Q96LI6 AC022486;AF332226;AF332227;AJ566404;BC036567;BC055414;BC117380;BC117382;BX281920;CH471202;NG_004636;NG_012030;NM_033108;NM_152584;NR_003510 AAH36567;AAH55414;AAI17381;AAI17383;AAK13478;AAK13479;ABZ92078;ADZ15979;CAD98806;EAW54676;EAW54677;EAW54678;NP_149099;NP_689797;Q96LI6 Hs.662281 1662640;1676142;2113594;2169195;2188625;5115872;5116100;5116102;5116106 DYS208;DYS209;G66365;RH93149;sY1119;sY1237;sY1946;sY1947;sY1949 HSF2L;HSFY;HSFY2 HSF2-like;OTTHUMP00000038977;OTTHUMP00000038978;heat shock transcription factor 2-like protein;heat shock transcription factor, Y-linked APPROVED protein-coding ENSG00000172468 18568 11850 400029 REVIEWED 1350459 HSPA14 heat shock 70kDa protein 14 10 10 10 p13 14808301 14841780 + 14920267 14953746 + 14880261 14913740 + 737633;1580863;6480464 12477932 19019335;18818748;15146197;14702039;14592822;10786835;8125298;12832005;7906708;16002468;16385451;19527514;20689807;21208456;22990118;22939629;21730052;21139048;15342556;22053931;11932435;21738476;22505724 51182 A6NJU0;B0YIZ1;H7C2A1;Q0VDF9 AA782088;ABBA01034605;ABBA01034606;AC069544;AF112210;AF143723;AK000880;AK225265;AK225651;AK226065;AK292323;AK302452;AMYH01002054;BC015696;BC026226;BC038845;BC065281;BC108738;BC119690;BC119691;BP201211;BQ424016;CH471072;CN308284;EF444968;NM_001278205;NM_016299;NR_103464 AAF17198;AAF66640;AAH26226;AAH65281;AAI08739;AAI19691;ACA05968;ACA05969;ACA05970;BAF85012;BAG50835;BAG63747;EAW86258;EAW86259;EAW86260;EAW86261;EAW86262;NP_001265134;NP_057383;Q0VDF9 Hs.534169;Hs.736996 1651179;1770382;1772190;2125736;2171364;5020948 A005E19;A006X45;G35510;RH45792;SHGC-34289;WI-12176 HSP70-4;HSP70L1;MGC131990 HSP70-like protein 1;OTTHUMP00000019161;heat shock 70 kDa protein 14;heat shock protein HSP60;heat shock protein hsp70-related protein protein-coding ENSG00000187522 29526 07021 610369 VALIDATED 1313610 HSPA12A heat shock 70kDa protein 12A 10 10 10 q26.12 112160118 112231561 - 118420693 118492075 - 118430703 118502085 - 1580863;6480464 18977241;17601350;15601604;14702039;12552099;12477932;9455477;8889548;21139048;12421765;23263487 259217 K7ELE6;K7ENF6;O43301 AB007877;ABBA01062954;AC016825;AK023936;AK294672;AK294884;AMYH01003095;BC041412;BU738372;CH471066;NM_025015 AAI56092;AAI56890;BAA24847;BAH11843;BAH11914;EAW49443;NP_079291;O43301 Hs.648448 1342201;1678869;1848617;2126524;2173809;5092776 A006D08;D10S544;G32323;RH66653;SHGC-2011;STS-AA026951 FLJ13874;KIAA0417 OTTHUMP00000020566;heat shock 70 kDa protein 12A;heat shock 70kD protein 12A protein-coding ENSG00000165868 19022 610701 VALIDATED 1323758 HSPA12B heat shock 70kD protein 12B The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 20 20 20 p13 3775245 3795643 + 3661356 3681758 + 3713317 3733758 + 1580863;6480464 12832005;22360420;18977241;17601350;15489334;14702039;12552099;12477932;11780052;7906708;19913121;20628086;23046810;22589738 116835 B4DLR4;B7ZLP2;Q5JX83;Q96MM6 ABBA01053828;AK056712;AK297120;AK301294;AL109804;AMYH01011678;AMYH01011679;BC090857;BC110881;BC117284;BC126263;BC143932;BF056643;CH471133;NM_001197327;NM_052970 AAH90857;AAI10882;AAI17285;AAI26264;AAI43933;BAB71261;BAG59626;BAG62852;EAX10515;EAX10516;NP_001184256;NP_443202;Q96MM6 Hs.516854 1768213 D14S1314 C20orf60;FLJ32150;MGC131912;dJ1009E24.2 OTTHUMP00000030119;OTTHUMP00000030120;heat shock 70 kDa protein 12B APPROVED protein-coding ENSG00000132622 16193 13683 610702 REVIEWED 1346893 HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012] 6 6 p12 44322827 44329592 + 44214849 44221614 + 1580863;2326084;4892102;5144125;5686868;5686803;5686383;6480464;6484113;6907045 16356826;18451092;16610357;19346995;14688203;21639837 20946244;21110914;2768249;19047110;18591256;18412542;18400751;18285346;18239673;17764690;17081983;17081065;16964243;16916647;16582619;16565220;16280321;16269234;16094384;15952740;15822905;15791211;15635413;15592455;15581363;15497503;15489334;15324660;15302935;15284248;14743216;14697242;14574404;14532285;12559950;12477932;11795466;11707401;11230166;11099500;10995457;10376793;9150948;8180474;7588731;7581991;3301534;2492519;2469626;16169070;20226818;17955473;19596686;20458337;21081666;21900206;22019372;22079093;15642353;15870294;16314389;16330544;16650407;17643375;18347946;19022436;19254810;19327008;19380486;19576239;19773279;19802386;19858214;19996313;20451655;20936779;19913121;20628086;16248461;16226712;19394292;20705598;18850735;22863883;16263121;16501598;17110338;18538669;19738201;19805454;20085233;21360678;21642987;21988832;17979178;20353823;15047060;16196087;19167051;20171186;20930503;21487019;21689689;16335966;22113938;22623428;22751105;22810585;22848402;23000965;23200770;23246001;23824909;22185817;21602280;23349634;23438482;17620599;22318606;18781797;21139048;21690293;21890473;21906983;21963094;21987572;22178446;21252943;22145905;18654987;22536838;16009940;19193609;21044950;19996089;21145461;21319273;17203973;17400507;18003639;20642453;11036079;22939629;15001580;19725029;23402259;23428871;23455922;23703321;21146485;23398456;12471035;15492215;19875381;20391533;20462248;23106098;23190606;23383273;12417652;18195352;19380743;20668552;21738476;21853274;22451720;22505724;22849407;22944692;22952844;22929401 3326 B4DGL0;P08238;Q5T9W8;Q6PK50 ABBA01050642;AF275719;AK025370;AK130494;AK290734;AK294643;AK297367;AK312255;AL136543;AL139392;AMYH01016321;AY359878;BC004928;BC007327;BC009206;BC012807;BC014485;BC016753;BC068474;BE539681;BG482327;BI252490;BQ028821;BX420114;BX649079;CD653541;CH471081;CX761569;D17804;DC340766;DC341882;DC350708;DC365600;DQ314872;J04988;M16660;NM_001271969;NM_001271970;NM_001271971;NM_001271972;NM_007355 AAA36025;AAA36026;AAF82792;AAH04928;AAH07327;AAH09206;AAH12807;AAH14485;AAH16753;AAH68474;AAQ63401;ABC40731;ABM83950;ABM87267;BAA22050;BAB15121;BAF83423;BAG35187;BAG57821;BAG59814;CAB66478;EAX04257;EAX04258;EAX04259;EAX04260;NP_001258898;NP_001258899;NP_001258900;NP_001258901;NP_031381;P08238 Hs.509736 1667810;1744327;2156602;2189467;5015509;5113533 A006I17;GDB:451694;MARC_6805-6806:992007483:1;RH65822;RH67971;WI-8585 D6S182;FLJ26984;HSP84;HSP90-BETA;HSP90B;HSPC2;HSPCB 90-kda heat shock protein beta;90-kda heat shock protein beta HSP90 beta;HSP 84;HSP 90;HSP84;HSP90 beta;HSP90-beta;OTTHUMP00000016517;OTTHUMP00000016518;OTTHUMP00000016519;heat shock 84 kDa;heat shock 90kD protein 1, beta;heat shock protein HSP 90-beta;heat shock protein beta APPROVED protein-coding ENSG00000096384 5258 06763 140572 REVIEWED 735529 HSPA13 heat shock protein 70kDa family, member 13 The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. [provided by RefSeq, Jul 2008] 21 21 q11 14665307 14677380 - 15743436 15755509 - 1580863;6480464 10675567;8889549;8889548;8825657;8125298;16189514;8131751;18793616;16087163;15489334;14702039;12477932;12107410;11319647;10830953;16713569;19793966;22318606;21139048;21900206;21988832;23303189;22190034 6782 F5GWS8;P48723 AA018751;AA767266;ABBA01057083;AF130249;AI912654;AK128540;AK223282;AK299004;AK312396;AL163206;AMYH01012140;BC017580;BC036370;BE467288;BI548162;CA392315;CF141775;CH471079;NM_006948;U04735 AAA16954;AAD21091;AAH36370;BAD97002;BAG35313;BAG54692;BAG61088;CAB90390;EAX10055;EAX10056;EAX10057;NP_008879;P48723 Hs.352341 1643741;1678629;1793972;5123826 D21S1954;PMC310710P2;RH38924;SHGC-30361 STCH OTTHUMP00000082970;heat shock 70 kDa protein 13;microsomal stress 70 protein ATPase core;microsomal stress-70 protein ATPase core;stress 70 protein chaperone, microsome-associated, 60kD;stress 70 protein chaperone, microsome-associated, 60kDa;stress-70 protein chaperone microsome-associated 60 kDa protein APPROVED protein-coding ENSG00000155304 11375 03061 601100 REVIEWED 1321409 HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012] 12 12 q24.2-q24.3 102848319 102865833 + 104324112 104341708 + 1580863;6480464;6484113;6907045 21472681;17936703;1923827;19697319;21739154;22318606;22427667;2924290;8460400;22532561;11958450;10497210;15082773;15192333;16130169;15845869;15620698;9596688;19212831;18941243;18662321;18554719;18482745;18411291;18340425;18331622;18273841;18264092;18190237;18178560;18155754;17805476;17726464;17612505;17545519;17431395;17347446;17082602;17081065;16754684;16630554;16497268;16288044;16269234;16263699;16015374;15962384;15952740;15728573;15637761;15489334;15257553;15107540;14500642;12754519;12665801;12654781;12643545;12477932;12475965;12470827;12397072;12167617;11912201;11861214;11584270;11557039;10049727;9694898;9006956;8617772;7768954;7523574;2546060;2378869;2377606;1512535;18239673;11907036;10887119;14499622;11726552;15082718;20232284;19000834;18029348;19578160;19615732;19724918;19752220;19875450;19895174;20237496;20300187;20351288;20029029;20562859;20936779;22724016;15166316;20352117;20721957;20704820;19913121;20176102;20599762;20628086;21208614;20839070;22863883;23109341;22672426;23035116;21774995;16335966;20811636;19135240;17558393;20000738;21637029;19343720;21081666;21642380;22554506;21343306;21900206;21992474;22079093;21708117;18781797;21139048;21890473;21906983;22178446;21110914;21998592;22245095;22363530;21628590;22270544;21145461;21319273;22653265;22777994;22939629;15576338;21559462;18816836;19805454;21565611;21963094;21988832;22190034;22304920;23000965;23208072;23349634;23431407;22174317;22268729;12471035;16257961;20510162;22938940;23077236;23097496;23182705;23190606 7184 F8VPC7;F8W026;H0YIV0;P14625 AB209534;ABBA01053210;AC078819;AF087988;AJ890084;AK025459;AK025862;AK295262;AK298996;AK300521;AMYH01004710;AY040226;BC009195;BC066656;CA419931;CH471054;CS288589;M26596;M33716;NM_003299;S74942;X15187 AAA58621;AAA68201;AAD14161;AAH09195;AAH66656;AAK74072;BAD92771;BAG58251;BAG61085;BAG62233;CAA33261;CAI64497;CAK18765;EAW97723;EAW97724;NP_003290;P14625 Hs.192374 1682075;1744009;1774769;1790367;2116017;2118125;2141871;2142637;2191525 GDB:384824;MARC_26038-26039:1032450563:1;RH17893;RH67937;SHGC-12717;STS-H99801;STS-X15187;TRA1;WI-15169 ECGP;GP96;GRP94;TRA1 94 kDa glucose-regulated protein;GRP-94;OTTHUMP00000242866;Tumor rejection antigen-1 (gp96);endoplasmin;endothelial cell (HBMEC) glycoprotein;glucose regulated protein, 94 kDa;gp96 homolog;heat shock protein 90 kDa beta member 1;stress-inducible tumor rejection antigen gp96;tumor rejection antigen (gp96) 1;tumor rejection antigen 1 APPROVED protein-coding ENSG00000166598 12028 01860 191175 REVIEWED 1345994 HSPA3 heat shock 70kDa protein 3 3307 5236 1347335 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 14 14 q32.33 101616828 101675839 - 102547075 102606086 - 2326084;4892102;5144125;5131489;5686823;5686847;5686396;6480464;6484113;6907045 16356826;18451092;16610357;19934406;19383083;19322027;21104931 21787283;20138989;11470816;9660753;12526792;15644312;2527334;9580552;10781589;19350847;19329795;19293389;19254810;19245816;19193894;19159681;19147678;19142186;19138996;19136058;19110265;19090995;19061638;19047110;19028451;18988734;18957107;18950863;18922470;18836734;18820283;18820127;18800240;18695913;18638579;18591668;18511558;18497978;18485364;18412542;18400751;18386162;18373550;18343820;18320023;18285346;18270269;18245548;18229454;18211808;18037622;17978573;17977914;17975158;17957250;17956728;17915561;17908693;17826744;16344560;16330544;16300468;16280321;16278218;16269234;16263121;16171778;16169070;16132836;16118214;16049054;16038408;15972449;15951401;15937123;15894266;15850399;15822905;15791211;15782121;15777846;15647277;15613472;15529360;15526284;15489334;15358771;15358769;15247219;15235609;15231747;15182205;15062560;15046863;15009113;15001580;14743216;14739935;14724288;14718169;14702039;14668798;14614132;14570880;14557268;12871950;12855682;12853476;12676772;12670868;12644583;12604615;12586360;12559950;12538866;12504007;12482853;12482202;12477932;12446770;12427754;12226087;12220519;12176997;12167617;12145316;12124224;12117999;12077419;11988487;11912194;11911945;11888936;11864612;11812147;11809754;11805120;11779851;11751894;11751892;11751878;11748628;11744239;11598136;11583998;11557750;11507088;11447118;11333259;11284722;11237709;11146632;11099500;11071886;11036079;10995457;10913161;10903152;10786835;10744744;10617616;10578053;10508479;10400612;10376793;10197982;10076566;10066374;9837941;9817749;9749880;9685350;9602032;9452498;9392437;9334248;9269769;9261129;9195923;9148915;9111057;9108479;9083006;9079689;9001212;8898375;8776728;8645634;8621522;8486648;8408024;8404044;7961671;7876093;7813446;7794926;7588731;2780322;2591742;2507541;2492519;2469626;1740332;1525041;1406681;1368637;1310678;15020715;15710247;17873020;17974989;1540595;18394702;18655187;19011619;11297531;12093808;17028174;11013261;12481031;15843522;12489981;9222609;10934467;17728246;17707089;17698952;17569659;17548610;17427945;17397257;17336451;17327415;17324930;17304350;17299090;17222799;17218278;17211576;17148781;17088927;17083915;17081983;17081065;17030621;16949366;16938294;16923571;16844778;16807684;16774932;16741950;16698020;16682002;16644868;16611982;16583711;16565516;16531226;16495214;16478993;16403413;16396496;16394098;8289821;22246440;22674575;22837396;9020169;12621024;11707406;12930902;14697242;14559896;14499622;15782129;12614460;15643424;15618521;15664193;12471035;21439943;21251717;19738418;19913121;20089831;20226014;20628086;20634891;20558745;11076968;12221128;12852856;15146192;15189447;16093354;16275660;16293251;16307917;16462731;16888650;16919237;16968706;17178836;17220478;18347946;18550537;19001379;19356729;19458189;19560753;19569046;19576239;19598015;19656872;19682504;19696785;19740745;19758187;19759002;19764559;19855434;19875381;19913553;19952119;19952121;19965370;20007907;20048054;20129057;20159553;20210521;20451233;20508983;7790358;9880522;20373063;20663926;20694452;20668552;15538384;16951198;20688913;20237157;20553606;15147973;15344906;15383005;16507982;18591380;20651072;20801936;20924358;20937817;20864038;22592212;22869732;16036220;16037132;16196087;16314389;16504566;16621797;16740632;17210713;19158084;20546334;20806039;20936779;14726529;16087666;16226712;20602789;20691061;21170051;20731692;21126747;21183720;12821935;15870294;15916966;15937340;20585984;20953179;10982807;17409432;17699868;20966961;20981255;12006493;18065756;21129190;19635199;17947705;22841823;22863883;22989880;22935698;22952420;23047954;21408136;10557093;18550849;19196961;20353823;20353944;21369706;21709012;16335966;17239458;19933325;20039095;21330372;21478269;21501532;21700222;14676191;17955473;18042044;18784277;19237536;19287380;19706771;20540933;20704274;21081666;21871133;15047060;16306228;19167051;19234166;20146531;20618441;20724477;20930503;21248063;21503962;17237281;17317785;20000738;21454478;21487019;21767636;21781956;19840459;21658391;22554505;23569206;23589305;19786724;20305087;22145905;22199355;22315411;22360420;20416171;21372220;21987572;21998300;22022502;22178446;7887964;12574167;18781797;20309963;21157430;21543763;21566061;21690293;21715568;21875325;21919888;21984809;10409742;18457437;19026643;19536328;19596686;20458337;20675402;20864537;21177334;21413014;21946088;22019372;22079093;22128174;22160715;16004603;16207813;16849543;17620599;18094050;18485875;22318606;22318716;22384180;16723087;17502619;23552409;23569248;23698466;23824909;21855341;21875461;22016036;17244529;17379601;18818696;21103899;21139048;21890473;21906983;21963094;22028380;22268041;22120110;22144665;22270370;22490666;22542455;12775586;14761955;15319539;16009940;16288044;17272822;17435760;17563756;18388150;18635949;19716405;20841485;20885985;20959453;21151955;21571784;21860411;22194440;22271573;22351691;22543833;22510516;22912728;23139789;18408180;20133715;20642453;20661446;20675372;20804554;20949042;22678819;12962497;15001357;16809764;17054904;18172692;18556464;19786027;19966776;19996089;20404110;21145461;21268072;21319273;21325980;22409343;22824801;22848678;17466273;18003639;15576338;17203973;17400507;11425855;14532270;19805354;22843619;22939629;23190580;16357216;17420470;20226818;23022381;23362263;23386606;23272037;16212417;16501598;17110338;18538669;19716330;19738201;19805454;20195357;20628368;21360678;21565611;21642987;21988832;22053931;22113938;22304920;22751105;22810585;22843495;22848402;22869522;23000965;23065205;23246001;23349634;23431407;23438482;17353003;19338310;20188096;20371770;23402259;23455922;23456764;23703321;23729439;23359685;21146485;23135731;23285036;23398456;23428871;23482560;23629654;22504172;22653663;22939624;22480737;22505724;22612223;22729780;22807676;22849407;22944692;22952844;22964853;22975376;23023377;8089152;10225950;11867521;15001356;15798097;16024644;16027165;16321986;16322212;18195352;18359116;18367605;19380743;19751963;19826009;21465483;21738476;21853274;22268729;22451720;17024179;20391533;22898980;23106098;23190606;23229893;23256568;23344957;23383273 3320 G3V2J8;G3V592;H0YJF5;K9JA46;P07900;Q86SX1;Q86U12 ABBA01048491;ABBA01048492;ABBA01048493;ABBA01048494;AF028832;AI250920;AJ890082;AJ890083;AK056446;AK129557;AK291115;AK291607;AK300126;AK310595;AL133223;AMYH01006027;AMYH01006028;BC000987;BC001695;BC007989;BC017233;BC023006;BC108695;BC121062;BX247955;BX248761;CH471061;DA237149;DC303876;DQ314871;GQ149083;M27024;M30626;NM_001017963;NM_005348;X07270;X15183 AAA36023;AAA63194;AAC25497;AAH00987;AAH07989;AAH23006;AAI08696;AAI21063;ABC40730;ADD71695;BAF83804;BAF84296;BAG51711;BAG61917;CAA30255;CAA33259;CAD62296;CAD66568;CAI64495;CAI64496;EAW81765;EAW81766;EAW81767;EAW81768;NP_001017963;NP_005339;P07900 Hs.525600 1660078;1688714;1742703;1767387;1792008;1792010;1792012;1854179;2145219;2150973;2217454;2219148;5113918 D3S4173;G35354;G35702;G35909;GDB:201870;HSPCAL3__6605;HSPCA_3204;PMC134733P3;PMC134733P4;PMC134733P5;RH75563;RH78019;WI-19188 EL52;FLJ31884;HSP86;HSP89A;HSP90A;HSP90N;HSPC1;HSPCA;HSPCAL1;HSPCAL4;HSPN;Hsp89;Hsp90;LAP2 HSP 86;OTTHUMP00000246766;OTTHUMP00000246767;epididymis luminal secretory protein 52;heat shock 86 kDa;heat shock 90kD protein 1, alpha;heat shock 90kD protein 1, alpha-like 4;heat shock 90kD protein, alpha-like 4;heat shock 90kDa protein 1, alpha;heat shock protein HSP 90-alpha;renal carcinoma antigen NY-REN-38 APPROVED protein-coding ENSG00000080824 5253 00777 140571 REVIEWED 1349475 HSPA1A heat shock 70kDa protein 1A This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008] 6 6 p21.3 31891316 31893698 + 31783291 31785719 + 1580863;5147600;5147599;5147596;5147598;5147593;5147595;6480464;6907045;7242743;7242747;6767553 20498198;15585408;18299791;21549006;20490736;19914824;18518860;21993476 20471030;16806014;16804002;16713569;16679378;16647242;16624816;16543726;16538176;16538175;16492383;16441767;16400691;16344560;16333988;16202503;16201310;16172114;16133872;16012946;15963589;15963462;15952740;15832029;15748471;15735699;15735003;15662014;15632129;15569319;15544165;15489334;15456888;15324660;15292002;15280693;15232679;15207703;15190186;15165109;15079808;14993262;14981913;14702039;14656967;14605873;14574404;14527417;14503850;14501185;12963728;12941774;12935469;12930708;12865437;12840151;12724406;12687213;12682040;12677068;12670868;12526792;12490434;12477932;12411538;12397061;12391142;12207910;12167701;12167617;12161444;12150907;12149123;12093808;12082592;12082088;12080070;12077419;12008944;11971973;11932435;11912194;11888936;11877453;16896546;11864979;11821413;19626584;19546256;19527514;19486887;19405961;19367718;19351530;19336004;19333379;19241595;19165527;19158413;19019335;19018093;19001088;18987644;18986301;18977241;18975920;18845908;18839337;18819021;18818748;18813331;18772114;18712940;18704483;18579131;18508912;18425350;18387829;18382667;18372927;18350254;18323737;18274635;18166694;18158591;18155754;17977914;17915559;17915554;17891901;17873279;17668636;17645866;17601350;17591867;17582394;17555092;17471537;17428599;17364813;17332370;17278879;17235439;17158748;17081983;17009596;16964243;16948906;11798084;11790298;11785981;11779758;11741305;11696222;11679576;11595173;11584023;11533664;11527400;11500375;11415446;11356186;11310559;11215307;11133992;11101523;10980614;10964507;10934467;10862698;10786835;10651811;10629618;10617616;10593983;10376524;10354271;10330192;10216320;10205060;10092532;9920933;9873016;9830037;9699716;9649501;9305631;9261129;9252351;9250404;9148915;8887650;8125298;7811761;7529764;3931075;3786141;3470951;3019832;2880793;2858050;2538825;1700760;1628823;1478667;12832005;7906708;15331702;15142379;15832179;15817944;15166037;15780175;15638722;11230127;12481031;9499401;14499622;14517289;1540595;21132545;21132546;21443787;21446356;20633729;19913121;20430459;20542028;20558613;20568452;20587610;20628086;20692469;20704535;20415540;20552383;11909948;15189447;15870294;15877962;15967112;16306228;19041431;19085089;19089598;19221897;19339340;19351493;19357992;19439993;19549684;19666596;19771447;19817876;19840767;19851445;19921986;20007907;20012387;20062073;20093746;20300187;20368414;20388090;20694452;20601427;19875982;20029029;20806039;20936779;19582769;20199785;16140033;16159877;17707232;19394292;20585345;21059845;21187371;20876613;21094186;21333981;20864555;21146485;23272037;23341456;23398456;23482560;23554879;23629654;22515481;19875381;20391533;23084401;23184937;23271055;23383273;20946988;21390211;17342744;17908427;19167051;20930503;22863883;22939629;16196087;20000738;21373891;21784850;22360420;20639865;20805357;21915333;8729618;19596686;19815544;20807285;14676191;19287380;21081666;21849784;22077956;20972266;21693764;21963094;22070286;17206383;18850631;22948392;23455922;23569248;23698466;23729439;23798571;23824909;21966512;16009940;17341665;20682791;20959453;21044950;16236267;19471022;21745403;21751214;22236337;22123078;22198139;22497815;17267499;21145461;22542718;22328194;14636579;23154057;22933322;16263121;17110338;17979178;19738201;21150319;21988832;22477150;22623428;22963397;23212905;23246001;12853476;23171464;22414085;19275585;19275587;20531386;21318276;21738476;21763498;21970979;22337587;22505724;23042605;23349634;22922572 3303 A8K5I0;B3KTT5;E7EP94;P08107;Q5SP16 AB018045;AB209818;ABBA01038086;ABBA01038087;AF134726;AK096017;AK225692;AK225699;AK291295;AK294182;AK298056;AK301243;AK301574;AK303980;AK304618;AK304652;AL662834;AL671762;AL929592;AMYH01016217;AMYH01016218;BA000025;BC002453;BC009322;BC018740;CH471081;CR388202;CR759915;DA256622;DA486842;DQ388429;DQ451402;M11717;M24743;M59828;NG_011855;NM_005345;X04676;X04677 AAA52697;AAA59844;AAA63226;AAD21816;AAH02453;AAH09322;AAH18740;ABD48956;ABD96830;ABW03885;BAA77235;BAB63300;BAD93055;BAF83984;BAG53197;BAG57500;BAG60350;BAG62811;BAG63067;BAG64898;BAG65400;BAG65428;CAA28381;CAA28382;EAX03528;NP_005336;P08107 Hs.274402;Hs.702139 1742775;1745013;1791624;1791778;1791794;1792004;1792006;1792170;1793120;1794472;1794524;1796012;1849369;2121321;2128362;2147161 D6S1170E;G30153;GDB:204303;GDB:592864;HSPA1A_124;PMC117401P1;PMC125271P2;PMC125702P4;PMC134733P1;PMC134733P2;PMC138289P2;PMC196894P1;PMC314357P1;PMC316709P1;RH35868;STS-M11717 FLJ54303;FLJ54370;FLJ54392;FLJ54408;FLJ75127;HSP70-1;HSP70-1A;HSP70I;HSP72;HSPA1;HSPA1B HSP70;HSP70-1/HSP70-2;HSP70.1/HSP70.2;OTTHUMP00000029287;dnaK-type molecular chaperone HSP70-1;heat shock 70 kDa protein 1/2;heat shock 70 kDa protein 1A/1B;heat shock 70kD protein 1A;heat shock-induced protein APPROVED protein-coding ENSG00000204389 5232 00774 140550 REVIEWED 1353078 HSPA1L heat shock 70kDa protein 1-like This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008] 6 6 p21.3 31885375 31890814 - 31777396 31782835 - 1580863;5147597;5147596;5147600;5147598;6480464;6907045 17591867;18299791;20498198 9685725;19374512;19351530;19143821;19116923;19085089;19019335;18987644;18977241;18818748;18813331;18551993;18518860;17934269;17601350;17582394;17578680;17428599;17060867;17009596;16611259;16565291;16538176;16538175;16525348;16381901;16333988;16202503;15963589;15818324;15489336;15489334;15236755;15165109;14656967;14605873;14574404;12742533;12544996;12477932;12082592;12008944;11779758;11696222;11599570;11334675;11076863;11040178;9349405;8125298;3927293;3470951;2880793;1356099;2538825;1700760;21145461;17643375;19299493;19439993;19527514;19626584;19643584;19731315;19789190;19840767;19851445;20012387;20069064;20096741;20388090;20800603;19913121;20568452;20587610;20628086;20704535;20714140;18850735;21182205;22863883;22939629;16196087;20000738;18781797;19343720;21726808;21906983;22079093;22178446;17620599;19875381;20391533;22922572;23455922;23703321;16364915;17110338;20972266;21139048;21890473;21963094;21987572;22053931;22810585;23000965;23028341;23246001;23330093;23349634;19380743;22505724 3305 B4DXY3;P34931;Q53FA3 ABBA01038086;AF134726;AK223386;AK295416;AK302179;AK315227;AL662834;AL671762;AL929592;AMYH01016217;BA000025;BC034483;BG717447;BX115051;CA443193;CH471081;CR388202;CR759915;D85730;DQ383515;M11236;M59829;NG_011855;NM_005527 AAA52696;AAA63228;AAD21817;AAH34483;ABC88476;BAA32521;BAB63301;BAD97106;BAG37656;BAG58366;BAG63545;CAL37423;CAL37689;CAL38291;EAX03527;NP_005518;P34931 Hs.690634 1649565;1791624;1791778;1791794;1792004;1792170;1793120;1794472;1796016;2106213;2128362;2148873;2189749 D6S2779;HSPA1L__1180;N3_2_5;PMC117401P1;PMC125271P2;PMC125702P4;PMC134733P1;PMC138289P2;PMC196894P1;PMC314357P1;RH12516;RH35868;STS-M59829 HSP70-1L;HSP70-HOM;HSP70T;hum70t OTTHUMP00000029295;heat shock 10kDa protein 1-like;heat shock 70 kDa protein 1-Hom;heat shock 70 kDa protein 1-like;heat shock 70 kDa protein 1L;heat shock 70kD protein-like 1 APPROVED protein-coding ENSG00000204390 5234 00776 140559 REVIEWED 736398 HSPA1B heat shock 70kDa protein 1B This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008] 6 6 p21.3 31903503 31906010 + 31795512 31798031 + 1580863;1626649;1626646;1626642;5147593;5147596;5147601;5147595;6480464;6767553;6907045;7242732;7242733;7242743;7242747;7242748;7242749 15992611;15223990;11319647;21549006;18299791;12771604;20490736;21993476;20692469;20379347;19914824;18518860;10965299;10550516 16804002;16713569;16525348;16441767;16344560;16333988;16236267;16202503;16165702;15963589;15963462;15748471;15714129;15489334;15324660;15236755;15232679;15165109;14656967;14605873;14574404;14506234;12967056;12730033;12703993;12691826;12544996;12490434;12477932;12411538;12391142;12207910;12082592;12008944;11971973;11932435;11864979;11779758;11730740;11696222;11533664;11231577;10964507;10617616;10216320;3931075;3786141;3470951;3019832;2880793;2858050;16130169;10205060;10859165;19527514;19351530;19085089;19046306;19019335;18987644;18844219;18818748;18813331;18759004;18580445;18551993;18529014;18478330;18344806;18191480;17940904;17582394;17558451;17532782;17428599;17364813;17314700;17311111;17301649;17158748;17081983;16964243;16953332;2538825;1700760;1478667;12832005;7906708;16169070;18850735;21471543;17167422;21145461;15603737;15671022;16275660;17289661;17342744;18975920;19299493;19439993;19626584;19643584;19661373;19731315;19754858;19840767;19851445;20012387;20043082;20207250;20388090;20498198;9553041;19335985;19759913;20140262;18822209;20568452;20587610;20704535;20714140;20876613;21373891;21487019;19287380;19596686;21738007;22160620;20639865;20972266;21693764;21963094;21987572;22037874;19322201;19738201;21139048;21360678;21890473;21906983;21988832;22623428;23000965;23065205;23246001;22053931;22323290;12853476;15885686;22468780;17620599;22883735;15492215;22922572;23182705;23184937;23349634;22797398;22834788;23330093;23455922;19275587;19380743;21738476;21763498;21970979;22505724 3304 A8K5I0;E7EP94;P08107 ABBA01038087;ABBA01038088;AF134726;AK295398;AK303967;AL360193;AL662834;AL671762;AL929592;AMYH01016218;AMYH01016219;BA000025;BC001876;BC057397;BC063507;CH471081;CR388202;CR759915;DB015158;M24744;M59830;NM_005346 AAA59845;AAA63227;AAD21815;AAH57397;AAH63507;ABM87425;BAB63299;BAG58351;BAG64891;EAX03529;NP_005337;P08107 Hs.719966 1742775;1745013;1791624;1794472;1796014;1849369 G30153;GDB:204303;GDB:592864;HSPA1B_126;PMC117401P1;PMC314357P1 FLJ54328;HSP70-1B;HSP70-2;HSPA1A HSP70-1/HSP70-2;HSP70.1/HSP70.2;OTTHUMP00000029288;heat shock 70 kDa protein 1/2;heat shock 70 kDa protein 1A/1B;heat shock 70kD protein 1B;heat shock 70kd protein 1a 1643377 BW325_H APPROVED protein-coding ENSG00000204388 5233 06784 603012 REVIEWED 735843 HSPA2 heat shock 70kDa protein 2 14 14 q24.1 64076939 64079708 + 65007186 65009955 + 1580863;6480464;6907045 22397456;3037489;8622925;7829106;12493773;18029348;19167759;18977241;18813331;18452162;17940904;17922431;17601350;17532782;17369882;17009596;17007855;16875346;16713569;16517558;16344560;16189514;15489334;15146197;14702039;12782964;12771604;12730033;12477932;11932435;11790298;11334675;11196683;11040178;10964507;10617616;9247342;8601336;7849706;1474216;12832005;7906708;17643375;19661373;16497536;19607827;19815555;20975101;16335966;21832049;22939629;21373891;16051665;20639865;21139048;21906983;22079093;22108332;22178446;23209833;23247813;23455922;23703321;23824909;20473970;17110338;19875381;20972266;21382349;21890473;21963094;21987572;22053931;22353510;22963397;23000965;23077236;23246001;23349634;23438482;22586326;22670834;19275587;21738476;21763498;22505724 3306 B3KUS2;P54652 ABBA01018363;AK097824;AL049869;AMYH01005799;BC001752;BC034365;BC036107;BG772858;BI461827;BT009815;CD300159;CH471061;CN356507;DB042367;DQ489378;L26336;NM_021979 AAA52698;AAH01752;AAH36107;AAP88817;ABE96830;ABM83464;ABM86675;BAG53534;EAW80864;EAW80865;NP_068814;P54652 Hs.432648 1669555;1796018;1846542;2150702 HSPA2_986;RH69032;RH69861;STS-T24102 HSP70-2;HSP70-3 OTTHUMP00000180664;heat shock 70kD protein 2;heat shock-related 70 kDa protein 2;testis-specific heat shock protein-related gene hst70 protein-coding ENSG00000126803 5235 07174 140560 VALIDATED 1350097 HSPA8P1 heat shock 70kDa protein 8 pseudogene 1 X X q24 120718274 120720523 - 120336697 120338946 - 3001086;3684609 3314 ABBA01036102;ABBA01036103;AC002377;AMYH01022925;M12119;NG_001144;Y00481 HSPAP1 APPROVED pseudo 5245 INFERRED 7204952 HSPA8P10 heat shock 70kDa protein 8 pseudogene 10 2 235653353 235654223 - 100420004 ABBA01013924;AC104394;AMYH01011587;NG_023674 pseudo 44925 INFERRED 7205282 HSPA8P11 heat shock 70kDa protein 8 pseudogene 11 8 p12 30094802 30096905 + 392209 ABBA01023671;AC090820;AMYH01018618;NG_022415 pseudo 44926 INFERRED 7204949 HSPA8P12 heat shock 70kDa protein 8 pseudogene 12 4 189634798 189636182 + 100420038 ABBA01070598;AC093909;AMYH01014792;NG_025278 pseudo 44927 INFERRED 7204962 HSPA8P14 heat shock 70kDa protein 8 pseudogene 14 12 q24.12 111819587 111823484 + 642580 ABBA01019888;AC005805;AMYH01004752;NG_028771 pseudo 44929 INFERRED 7204947 HSPA8P15 heat shock 70kDa protein 8 pseudogene 15 6 151732397 151735092 - 100420051 ABBA01025640;AL590413;AMYH01016746;NG_025882;NG_033031 pseudo 44930 INFERRED 1350877 HSPA4L heat shock 70kDa protein 4-like 4 4 4 q28 126082422 126133472 + 128922903 128973976 + 128703453 128754522 + 1580863;6480464;6907045 15489334;17353931;19169850;15815621;14702039;12952923;12477932;12423363;11389747;10524232;17024176;20800603;20811636;22863883;22939629;22990118;21946539;21139048;21890473;21906983;21628590;20639865;21963094;21987572;23000965;23349634;23509252;22053931;22505724 22824 D6RJ96;E7ES43;E9PDE8;O95757 AB023421;ABBA01044794;AC093591;AK027822;AK302115;AK303053;AK307464;AMYH01014509;AY290862;BC040560;CH471056;EF197155;NM_014278 AAH40560;AAP44471;AAY40975;ABM69040;BAA75063;BAG51382;BAG63494;BAG64172;EAX05197;EAX05198;NP_055093;O95757 Hs.135554 1665167;2108695;2152622 APG-_1_9274;D4S587;G33318 APG-1;HSPH3;Osp94 OTTHUMP00000164424;OTTHUMP00000219888;OTTHUMP00000219889;OTTHUMP00000219890;heat shock 70 kDa protein 4-like protein;heat shock 70 kDa protein 4L;heat shock 70-related protein APG-1;heat shock protein (hsp110 family);osmotic stress protein 94 protein-coding 17041 07137 PROVISIONAL 7204966 HSPA8P16 heat shock 70kDa protein 8 pseudogene 16 7 q21.11 84657064 84659251 + 100289643 AACC02000015;ABBA01045885;AC004957;AMYH01017662;CH236949;NG_022569 pseudo 44931 INFERRED 7204965 HSPA8P17 heat shock 70kDa protein 8 pseudogene 17 9 30987926 30990230 + 100533658 ABBA01065095;AL353745;AMYH01019315;NG_028723 pseudo 44932 INFERRED 7204948 HSPA8P19 heat shock 70kDa protein 8 pseudogene 19 3 132365965 132369238 + 100420049 ABBA01059181;AC020632;AMYH01013502;NG_025743 pseudo 44935 INFERRED 5130587 HSPA8P2 heat shock 70kDa protein 8 pseudogene 2 13 13 71040218 71041051 - 90198617 90199450 - 100420133 ABBA01027257;AL583783;AMYH01005280;NG_024873 pseudo 39806 INFERRED 7204811 HSPA8P20 heat shock 70kDa protein 8 pseudogene 20 X q25 123338598 123339657 - 100129231 ABBA01036441;AL391241;AMYH01022944;CH471107;NG_023274 EAX11852 pseudo 44936 INFERRED 7204946 HSPA8P3 heat shock 70kDa protein 8 pseudogene 3 10 27003561 27004984 + 100420143 ABBA01034412;AL390961;AMYH01002201;NG_025479 pseudo 44918 INFERRED 7204953 HSPA8P4 heat shock 70kDa protein 8 pseudogene 4 5 129475701 129477840 + 100420028 ABBA01068845;AC005373;AMYH01015608;NG_024717 pseudo 44919 INFERRED 733190 HSPA4 heat shock 70kDa protein 4 5 5 q31.1 132415561 132468608 + 132387662 132440709 + 1580863;4892102;5144125;6218964;5686871;5686872;5686884;6218966;5688754;6218959;6218961;6218995;5688753;5688785;6218957;5688755;5688781;5688784;5688779;6480464;6907045 18451092;16610357;22355243;22245947;22213170;22186119;22349026;17473852;21787762;21709150;18601936;22297444;22067617;21801456;12235111;22140545;22047640;19350847 20568452;8335910;15644312;19116451;19026123;19019335;18977241;18818748;18813348;18799101;18790094;18686014;18651163;18608178;18587674;18550409;18505677;18489731;18456818;18439902;18418731;18322243;18297536;18258197;18162458;17988935;17616937;17601350;17580361;17553457;17311516;17278883;17278882;17240362;17211576;17206383;17012257;17010992;16845230;16790501;16713569;16584808;16579839;16021519;15992611;15950770;15818324;15677475;15592455;15529360;15507967;15378924;14987991;12754272;12526792;12485826;12477932;12356871;11932435;11777905;11707406;10964507;10617616;10524232;9694873;9392437;9161406;9115634;8889548;12832005;7906708;18573886;10330192;9649501;9305631;11116152;9452498;11912194;12482202;7529764;9222609;1628823;10934467;11821413;11584023;16169070;12167701;12677068;12670868;12930902;14594945;14503850;14506234;14527417;14559896;15215856;15456888;14743216;17154545;15654337;15603737;17242407;21046302;19017364;16248461;20569278;12963786;15556606;15792802;16093354;16293251;16697380;16884686;16919237;16943429;16954220;17024176;17158748;17167422;17274640;17512523;17873020;18029348;18088459;18223694;18248624;18426646;18806873;19205928;19231003;19420297;19475432;19527514;19529862;19543852;19544471;19598015;19604401;19620938;19716411;19758187;19764559;19766166;19802386;19919883;20026329;20069064;20132183;9247342;15198682;15254225;15344906;15358145;15383005;15466472;20300983;16135753;16169850;16314389;16507982;16621797;16714300;20029029;20498198;20516149;20632817;19952398;16598923;15525661;15538384;16951198;19001415;19486527;20735358;20426530;12963728;14726529;14962978;16133872;19758266;18657505;20801936;20809635;20353025;20714862;22528773;22901192;23043959;20731692;21480956;17573780;17802821;12676955;12750378;15870294;15937340;18211808;20876215;20354811;21208456;21522149;18550849;19196961;12006493;15150263;18026119;21161074;21385873;20806409;21299508;15367657;17947705;22535481;22863883;16556936;23077236;23271055;23293021;23344957;23383273;20170613;19635199;20583115;21477782;20714140;21763498;10205060;15299030;17239458;19376117;19648119;19933325;19995547;20164180;20516061;20547759;20811636;20964628;21745816;21353370;22990868;21639839;21330950;10409742;10629618;17184779;18457437;19940151;20228063;21343306;21946088;21992180;22128174;22130672;22160715;11500375;17317785;21183741;21203488;21454478;21487019;21672353;16306228;17342744;20146531;20847049;21228271;21503962;21725599;14702098;19338310;20371770;23402259;23428871;23455922;23542779;23703321;20704274;21081666;21233200;21549100;21839816;20842208;21418859;21539621;14676191;15383534;17461779;17955473;18784277;19114714;19233847;19237536;19246649;19261749;19343720;19913553;20540933;21775503;11133992;12574167;15735003;17992192;18781797;20349136;20639865;20663926;21358815;21518764;21767633;21940409;21987572;22022600;7887964;15189447;15758953;16888650;17139257;19071123;21139048;21566061;21890473;21906983;22143029;9250404;16723087;23382911;23756845;23824909;21442384;12684064;12775586;15319539;17148442;17272822;17452440;19069644;19229298;19349277;19622774;21151955;21298030;22876279;21474779;22294379;21403392;21502505;22037021;22157767;22219199;22032827;17671431;19017811;22345440;22461698;22536838;14532117;16275660;16895519;17027895;17127076;18436529;18485875;19892702;20221403;21124777;21625540;21750953;21822214;22586326;18094050;22343013;11606597;15207703;15388581;15647277;16289162;16354686;16962653;17466273;18408180;20053985;20639872;20661446;20804554;20810659;9553041;10671488;12812987;15596450;16777091;16809764;18556464;19098309;19148187;20368414;21145461;21268072;21319273;21325980;21775628;22409343;22613557;22824801;14532270;14752510;20156966;21972530;22939629;12874291;15967112;19659607;21360678;21887822;21963094;22053931;23000965;23246001;23349634;23359685;23410750;23412384;23438482;23154057;23152061;23276928;22544056;23109422;23139789;10225950;11054417;11520069;12874020;14711827;15798097;17676665;18271526;18359116;18716059;18729074;19275587;19639585;19826009;20012529;21179807;21738476;21832061;21985244;22505724;22952844;23023377;23040663;11231577;22443056 3308 P34932;Q9BUK9 AB023420;AB209151;ABBA01068782;AC113410;AK294859;AK295847;AK297762;AK299710;AK300050;AK300770;AK303382;AK304578;AK311097;AK311125;AK311135;AK311224;AK311299;AK311316;AK311422;AK311457;AK311465;AK311466;AK311471;AK311483;AK311615;AK311632;AK315862;AK315871;AK315875;AK315887;AMYH01015618;BC002526;BC110861;BC126122;BC126124;BG723797;BQ431980;BT007375;BU171424;BU686725;CF145856;CH471062;L12723;NM_002154;X67640;X67643 AAA02807;AAH02526;AAI10862;AAI26123;AAI26125;AAP36039;ADR83280;BAA75062;BAD92388;BAF98753;BAF98762;BAF98766;BAF98778;BAG57963;BAG58655;BAG60110;BAG61610;BAG61859;BAG62435;BAG64438;BAG65366;CAA47885;CAA47886;EAW62294;EAW62295;NP_002145;P34932 Hs.90093 1763407;2108157;2123162;2124908;2143629;5017708;5125419 HSPA4;HSPA4_7803;RH65703;SHGC-147123;SHGC-35073;STS-H93522;STS-R11513 APG-2;HS24/P52;HSPH2;MGC131852;RY;hsp70;hsp70RY OTTHUMP00000159262;heat shock 70 kDa protein 4;heat shock 70-related protein APG-2;heat shock 70kD protein 4;heat shock protein, 110 kDa;hsp70 RY protein-coding 5237 09025 601113 VALIDATED 1349004 HSPA7 heat shock 70kDa protein 7 (HSP70B) 1 1 q23.3 159841463 159844965 + 161575849 161578341 + 1580863;6480464 18584345;17915556;17915554;17163517;17044073;11072087;3927293;1346391;12107410;8889548;18850735;18781797;21906983;21628590;17620599;21145461;19380743 3311 P48741 AF093759;AL451067;AMYH01001463;BM677874;CA391777;DR004990;NR_024151 P48741 Hs.662180 2147260;2185902 RH70826;STS-X51758 HSP70B pseudo 5240 140556 PROVISIONAL 736447 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010] 9 9 q33.3 127036953 127043430 - 127997127 128003666 - 1580863;5686293;5685632;5685639;5685704;5685650;6480464;5686342;5685671;5685686;5685640;5685690;5685666;5685664;5685668;6907045 21094208;22227563;11315915;21112319;22075494;20957756;21864296;21436843;22143970;21209083;21933012;21940431;21927577 21080038;21189163;21516372;12665508;16130169;10085239;15308636;12493773;19533686;19470730;19411306;19309398;19228285;19212831;19188365;19165527;19164805;19151922;19107326;19103594;19097122;19014922;18977241;18842681;18840615;18790759;18781276;18776923;18757373;18720263;18708359;18708056;18556570;18482745;18411300;18403493;18343577;18331622;18278507;18268478;18192872;18083346;18064632;18022401;17991893;17942541;17936241;17932454;17931354;17906960;17848573;17805346;17728248;17670764;17640713;17601350;17431395;17220478;17081065;17062670;17002502;16912197;16912156;16731524;16543232;16497268;16488447;16472112;16428306;16400691;16329989;16282978;16236267;16182273;16169070;16168956;15952740;15949590;22146569;15899857;15817150;15778089;15664986;15657421;15635413;15618547;15525676;15514946;15489334;15456888;15324660;15146195;15077298;15009096;12840015;12713871;12643545;12637535;12621026;12552023;12516782;12514190;12480769;12477932;12475965;12411443;12397072;12383251;12359150;12356756;12194978;12097557;12076252;11943137;11932435;11907036;11790298;11752154;11751874;11719466;11476899;11294872;11162507;11160188;11013075;10964928;10964507;10906332;10887119;10777498;10760948;10617616;10461883;10397760;10197448;10049727;9885241;9492298;9409741;9305856;9150948;9150946;9006956;8020977;7957306;7878056;7724523;3122216;3087629;2840249;2294010;1649196;1602151;1480470;12832005;10514465;1900540;7906708;11162551;10970892;11765911;20371724;21137052;21472681;22581315;17620599;22004425;22425662;22427667;22472071;20145413;20176102;11181571;16223484;17215244;17337485;17643375;18264092;18502753;19128512;19296942;19386345;19421146;19482905;19546472;19616278;19626590;19632185;19671925;19713465;19718440;19722195;19741001;19776128;19786088;19816510;19823030;19838160;19838163;19842229;19845896;19950238;20017148;20072656;20204278;20208072;20213805;20360535;20525207;8666824;15166316;20720212;16344560;20672702;20605795;20735358;19017364;20979610;20492754;20506407;20651985;20664690;20739513;20936779;20484513;16522924;20473863;20082722;20497865;18400946;21056970;15150263;15280358;18850735;22543280;22528773;22939629;12471035;16257961;19875381;22996014;23097496;23106098;23182705;23184937;23233672;23314748;23383273;22855534;23349634;21418596;21467168;19236758;21503958;21622563;21840908;19674193;21382870;21642380;21947079;20508642;21745816;21597391;21673190;21252943;20628775;23123197;22863883;16196087;20171186;21203488;21221131;21479362;22076227;21156321;17721549;17765891;19135240;19167051;21779363;21800051;21389343;22430489;22446326;16051665;19287380;19343720;19765186;19850743;21081666;21374734;10708769;17184779;18457437;19596686;19815544;21343306;21903092;22079093;17139257;18781797;21139048;21825151;21890473;21906983;21987572;22178446;21890413;21940774;22306319;22460328;17683050;19193609;20473970;22234250;22627132;22752300;19471022;21199322;18654987;22536838;22297694;22495374;22796945;21947694;22546345;22215138;17725712;20028516;23200913;23402259;23428871;23455922;23575540;23703321;21145461;21319273;22564965;22613557;22735594;21965664;23056589;23089287;22945507;23220234;15908432;23277564;23280503;23398456;16212417;17380188;17979178;19659607;19738201;19805454;20085233;21565611;21963094;21988832;22810585;22912664;22963397;23000965;23246001;23402331;23438482;23416888;23569248;23798571;22689054;23322163;10588643;16027165;19275587;19380743;19815549;20457808;21118962;21738476;21763498;21853274;22438978;22505724;22851173;22801219;22527697 3309 B4DEF7;P11021 AA433933;ABBA01043777;AF188611;AF216292;AJ271729;AK129617;AK293604;AL354710;AMYH01021710;BC020235;CH471090;CS288575;DA549454;DQ385847;M19645;NG_027761;NM_005347;X59969;X87949 AAA52614;AAF13605;AAF42836;AAH20235;ABD04090;ABM83099;ABM86294;BAG57068;CAA42595;CAA61201;CAB71335;CAK18759;EAW87620;EAW87621;NP_005338;P11021 Hs.743241 1697950;1728973;1791376;1796020;2153189;5019925;5022450 D10S275;D2Wsu17e;D9S1138;HSPA5_988;PMC108893P1;RH102504;RH94472 BIP;FLJ26106;GRP78;MIF2 heat shock 70kd protein 5;78 kDa glucose-regulated protein;GRP-78;Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD);OTTHUMP00000022124;endoplasmic reticulum lumenal Ca(2+)-binding protein grp78;glucose-regulated protein, 78-kD;heat shock 70 kDa protein 5;heat shock 70kD protein 5 (glucose-regulated protein, 78kD);immunoglobulin heavy chain-binding protein APPROVED protein-coding ENSG00000044574 5238 00682 138120 REVIEWED 7204987 HSPA8P9 heat shock 70kDa protein 8 pseudogene 9 3 q22.3 137599052 137600534 + 402143 ABBA01059099;AC117478;AMYH01013531;NG_022275 pseudo 44924 INFERRED 7205171 HSPA8P5 heat shock 70kDa protein 8 pseudogene 5 12 p13.32 4206539 4208886 + 399988 ABBA01048771;AC007207;AMYH01004195;NG_021701 1663578 G17622 pseudo 44920 INFERRED 7205336 HSPA8P6 heat shock 70kDa protein 8 pseudogene 6 2 q34 209937324 209938875 - 130195 ABBA01062716;AC013409;AMYH01011454;NG_021552 pseudo 44921 INFERRED 7204989 HSPA8P8 heat shock 70kDa protein 8 pseudogene 8 7 p21.3 10490863 10493127 + 12690205;9847074 100287551 AACC02000009;ABBA01056547;AC009945;AMYH01017071;CH236948;NG_005513 EAL24298;EAL24299 pseudo 44923 INFERRED 7204950 HSPA8P7 heat shock 70kDa protein 8 pseudogene 7 X 114009190 114011412 - 100420080 ABBA01053606;AC004822;AL590097;AMYH01022851;NG_026750 pseudo 44922 INFERRED 1349371 HSPA9A heat shock 70kDa protein 9A (mortalin-1) 23707 5243 6481451 HSPA9P2 heat shock 70kDa protein 9 pseudogene 2 18 26836455 26837039 - 100873903 ABBA01022544;AC105245;AMYH01008910;NG_032192 pseudo 31733 INFERRED 1354470 HSPB1P1 heat shock 27kDa protein 1 pseudogene 1 9 9 9 q21.13 45195382 45195758 - 73812472 73821234 - 74622675 74623051 - 12838549;2538929 653553 ABBA01033846;AL138751;AMYH01021404;NG_013115 2140619 G26375 HSPBL2 APPROVED pseudo 5251 INFERRED 1353927 HSPA9P1 heat shock 70kDa protein 9 pseudogene 1 2 2 2 q36.3 216594567 216597354 + 222534560 222537492 + 222826389 222829176 + 9847074 266724 ABBA01023820;AC009302;AMYH01011515;NG_002380 1773456;5091116 D5S2414;RH69016 HSPA9BP;HSPA9P heat shock 70kda protein 9b pseudogene APPROVED pseudo 24915 INFERRED 1345010 HSPB1P2 heat shock 27kDa protein 1 pseudogene 2 X X X p11.23 52573370 52574107 + 48977320 48977904 - 49090262 49090999 - 2538929 653364 ABBA01046141;AC232271;AF235097;AMYH01022294;NG_008236;NG_009095;NG_021311 1339854;1754167;7186118 DXS1208;SHGC-132193 HSPBL3 APPROVED pseudo 5252 INFERRED 1345374 HSPB11 heat shock protein family B (small), member 11 1 1 1 p32 52674924 52698976 - 54159822 54183876 - 54387234 54411288 - 737633;6480464 12477932 18154656;17275951;15489334;11042152;8125298;2018407;16189514;17207965;19253336;21139048;21906983 51668 A6NG08;A6NIR2;Q9Y547 ABBA01074729;AF100747;AF416725;AF417114;AK225916;AL031427;AMYH01000631;BC005245;BC045699;CH471059;L32869;NM_016126;X79302 AAD43011;AAH05245;AAQ03618;AAQ03994;ADQ32445;EAX06717;EAX06718;EAX06719;NP_057210;Q9Y547 Hs.525462;Hs.624686 1848259;2112392;5016596;5022200;5022322;5022578;5117897 D11S2560;D1S1423;D1S3673;GDB:631802;GDB:631813;L18426;RH45204 C1orf41;HSPCO34;IFT25;PP25 OTTHUMP00000010053;OTTHUMP00000010084;OTTHUMP00000010085;heat shock protein beta-11;intraflagellar transport 25 homolog;placental protein 25 protein-coding ENSG00000081870 25019 PROVISIONAL 5133078 HSPB2-C11orf52 HSPB2-C11orf52 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring heat shock 27kDa protein 2 (HSPB2) and chromosome 11 open reading frame 52 (C11orf52) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) based on the use of the supported HSPB2 translational start codon, and it is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 11 q 111783460 111797595 + 12477932;20967262 100528019 E9PN16 ABBA01039810;ABBA01039811;AK293041;AMYH01004032;AP000907;BC110872;NG_009824;NR_037651 AAI10873;BAF85730 Hs.97013 5492765;5493475 UniSTS:482396;UniSTS:486646 FLJ77220;MGC131888 APPROVED miscrna 41996 VALIDATED 1346401 HSPA6 heat shock 70kDa protein 6 (HSP70B') 1 1 q23 159760660 159763311 + 161494036 161496687 + 1580863;6480464;6907045 2327978;19019335;18977241;18818748;18579131;18229458;17601350;15489334;14702039;12477932;11932435;10964507;10617616;10413683;8125298;7545947;3184191;1346391;12832005;7906708;21145461;17643375;18347947;18372927;19074885;19423540;19527514;19773279;20348092;20406964;20438785;20084477;20140262;16497536;22939629;21297633;18850735;22863883;16335966;16196087;18685789;21044950;17623298;18781797;19287380;19815544;21906983;22178446;17620599;19875381;20391533;17110338;20972266;21139048;21565611;21890473;21963094;21987572;21988832;22053931;23000965;23128233;23246001;23438482;19275587;19380743;21738476;21763498;21853274;22190034;22505724 3310 B4DHP5;P17066 ABBA01047318;AK093925;AK223362;AK295212;AK312756;AL590385;AMYH01001458;BC004279;BC035665;BQ008960;BQ217460;DQ521571;NM_002155;X51757;X51758 AAH04279;AAH35665;ABF47108;ABM83372;ABM86583;BAD97082;BAG35622;BAG52788;BAG58207;CAA36061;CAA36062;NP_002146;P17066 Hs.654614 2147260;2185902 RH70826;STS-X51758 OTTHUMP00000032372;heat shock 70 kDa protein 6;heat shock 70 kDa protein B';heat shock 70kD protein 6 (HSP70B') protein-coding ENSG00000173110 5239 00775 140555 VALIDATED 731772 HSPB2 heat shock 27kDa protein 2 The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012] 11 11 q22-q23 111288709 111290027 + 111783460 111784817 + 70771;1580863;6480464 9344664 9490724;14594798;19429074;19325007;19238749;19132982;18755499;18701018;18651163;18624915;18471985;18440775;18390793;18387368;18299320;18061943;17916352;16598774;15489334;14963027;14729728;12897149;12832059;12829720;12748284;12705895;12700631;18566345;18494762;12611892;12510153;12503731;12477932;12473058;11926998;11697892;11313745;10625651;9687510;8227983;17974989;18950704;11342557;9628874;20592365;19464326;19224398;19331697;19520919;19656912;19680556;19901540;19930842;20043073;20065497;20101233;20378664;20336542;17524270;19513626;16598923;20456980;20087649;21258768;18029348;19597476;21245386;22178446;22272249;23155000;23188086;11003656;12601044;21905118 3316 A8KAH6;Q16082 AB096250;ABBA01039810;ABBA01039811;AI131288;AMYH01004032;AP000907;AY208910;BC109393;CH471065;CR457408;D89617;EF444955;EF444984;NG_009824;NG_033080;NM_001541;S67070;U75898 AAB28816;AAB82757;AAI09394;AAO18081;ACA05948;ACA06000;BAA24004;CAG33689;EAW67168;EAW67169;NP_001532;Q16082 Hs.709660 1657181;1737801;1742511;1791744;1797718;2127704;5492765;5493475 D11S3407;GDB:197835;HSPB2_2418;PMC123035P1;STS-S67070;UniSTS:482396;UniSTS:486646;WI-17363 HSP27;Hs.78846;LOH11CR1K;MGC133245;MKBP DMPK-binding protein;OTTHUMP00000234293;heat shock 27kD protein 2;heat shock protein beta-2;heat-shock protein beta-2 protein-coding 5247 03712 602179 REVIEWED 68484 HSPB3 heat shock 27kDa protein 3 This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010] 5 5 5 q11.2 50705068 50705830 + 53787202 53787964 + 53751431 53752214 + 1302323;1580863;6480464;7240710 9858786 12477932;8972725;16225851;16169070;10625651;20142617;19464326;22610661 8988 Q12988;Q6ICS9 ABBA01015727;AC092366;AK314215;AMYH01015087;BC126272;BC132869;BX106905;CH471123;CR450314;N74672;NG_027758;NM_006308;U15590;Y17782 AAD05360;AAI26273;AAI32870;ADR82829;BAG36889;CAA76848;CAG29310;EAW54893;NP_006299;Q12988 Hs.41707 1679303;1797720;2126675;2220446;5493497 HSPB3_202;RH65243;UniSTS:482422;UniSTS:486904;UniSTS:494604 DHMN2C;HMN2C;HSPL27 HSP 17;OTTHUMP00000122478;heat shock 17 kDa protein;heat shock 27kD protein 3;heat shock protein beta-3;protein 3 APPROVED protein-coding ENSG00000169271 5248 06861 604624;613376 REVIEWED 736219 HSPA8 heat shock 70kDa protein 8 This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 q24.1 122433410 122438054 - 122928200 122932901 - 1580863;2326084;6480208;6480203;6218982;6480104;6480464;6480224;6478714;5688778;6480228;6480229;6480236;6218976;6218980;5688780;6907045;7242788;7242762;4142786;7242785;7242786;7242787 16356826;18441202;18704197;20697033;19578980;17341625;19684010;22171050;17241115;16805800;16303141;21137014;21135124;21824468;7569112;17330940;10469394;21475814;14966137;9557158 20471030;8530083;10954706;16531398;11093761;12493773;8713105;19397879;19321452;19254810;19110265;19098309;19056482;19014922;19009367;18988734;18977241;18772114;18684711;18667436;18600213;18500754;18493267;18434395;18380807;18307834;18299791;18261988;18231578;17954934;17934269;17929041;17878160;17876681;17785435;17636261;17601350;17569659;17397964;17296233;17284448;17240362;17081065;17022977;16903783;16817320;16696853;16365278;16324147;16236267;16169070;16100000;15972823;15963462;15952740;15795242;15694383;15644312;15635413;15625011;15592455;15497503;15489334;15456888;15336565;15324660;15302935;15292236;15194794;15086793;15048123;15009096;14993262;14991745;14760703;14702039;14684748;14612456;14532270;12890148;12850307;12840151;12670868;12502735;12477932;12421917;12356871;11932435;11909948;11790298;11741305;11679576;11276205;11241348;10976766;10964507;10722728;10635329;10625686;10617616;10330192;10205060;10197448;10075921;9873016;9830037;9694898;9675148;9463375;9305631;9269769;8892974;8663341;8125298;7826371;7673249;7639722;7578144;7559589;7545947;3037489;2966179;2155506;1975516;1586970;1286667;12832005;7906708;18573886;19019082;12150907;11101529;12391170;11297531;16189514;12481031;11116152;11707406;12724406;14499622;9738006;8940078;9235949;15802566;17332742;15215316;16009940;17272822;17683050;18635949;18685789;19193609;19913121;20628086;21145461;21319273;22743058;22843682;10671488;11146634;15596450;16777091;16815975;18172692;19148187;16037132;16497536;16621797;16740632;20029029;20032463;20516149;20806039;11031247;11230127;11252894;14557246;15870294;15936278;16093354;16225871;16275660;16293251;17289661;17620599;17643375;18550537;19041431;19551494;19578796;19686046;19802014;20003465;20018937;20300519;12750892;20457599;20084477;20729196;20804732;15344906;15358145;15538384;15611333;18537972;19394292;20642807;21050049;12297498;20953179;15254225;18097041;22842575;12471035;15492215;19875381;20391533;23084401;23106098;23184937;23383273;11557750;21148293;10666020;10982807;21565169;20308691;16335966;20039095;20164180;20516061;14752510;15647277;17893145;17947705;21182205;22776201;22863883;22939629;23349634;11500375;15047060;16196087;17342744;17765891;19167051;20026656;20618441;20930503;21183741;21454478;21487019;21697503;12517784;17955473;18457437;19233847;19287380;19596686;19815544;20458337;20540933;20675402;21233200;21719532;21900206;21911421;22079093;19471022;22074182;21103899;16207813;17127076;18094050;18781797;20639865;21942715;21987572;22090113;22178446;8729618;17139257;20972266;21139048;21693764;21890473;21906983;21963094;11222862;11687574;19338310;23455922;23695238;23703321;23824909;9774640;10567422;22039833;22170045;16212417;16501598;17110338;17979178;19738201;19805454;21182203;21360678;21382349;21565611;21988832;22365833;22623428;22904065;23000965;23065205;23246001;23431407;23434281;20473970;21575865;22234250;15198682;21252943;22536838;17400507;17725712;18408180;20176811;23071649;23235156;19800331;23217712;23398456;23482560;23569223;12417652;12874020;14978028;16027165;16712842;18367605;19275587;19380743;19826009;19912576;19931244;20884878;21150129;21423662;21738476;21763498;21832061;21853274;22053931;22337587;22505724;22645275;23018488;23042605 3312 A8K7Q2;E9PI65;E9PK54;E9PKE3;E9PLF4;E9PM13;E9PN25;E9PN89;E9PNE6;E9PPY6;E9PQK7;E9PQQ4;E9PS65;P11142;Q53HF2 AB034951;AB073886;ABBA01031277;AF217511;AF352832;AK000571;AK096100;AK129885;AK222628;AK222785;AK292067;AK300404;AK303935;AK310467;AMYH01004098;AP000926;BC007276;BC008907;BC015699;BC016179;BC016660;BC019816;BC042163;CH471065;DC312904;DC395565;NG_029473;NM_006597;NM_153201;Y00371 AAF67622;AAH07276;AAH08907;AAH15699;AAH16179;AAH16660;AAH19816;AAK17898;ABM82071;ABM85251;BAA91262;BAB18615;BAD96348;BAD96505;BAF84756;BAG53212;BAG62134;BAG64863;CAA68445;EAW67539;EAW67540;EAW67541;EAW67542;NP_006588;NP_694881;P11142 Hs.180414 1667763;1684136;1701086;2116590;5016814;5113611 HSPA8;RH104170;RH27394;SHGC-8020;SHGC-8077;WI-12733 HSC54;HSC70;HSC71;HSP71;HSP73;HSPA10;LAP1;MGC131511;MGC29929;NIP71 LPS-associated protein 1;N-myristoyltransferase inhibitor protein 71;OTTHUMP00000231743;OTTHUMP00000231744;OTTHUMP00000231745;OTTHUMP00000231746;OTTHUMP00000231747;OTTHUMP00000231749;constitutive heat shock protein 70;heat shock 70kD protein 8;heat shock 70kd protein 10;heat shock cognate 71 kDa protein;heat shock cognate protein 54;heat shock cognate protein, 71-kDa;heat shock protein 8;lipopolysaccharide-associated protein 1 APPROVED protein-coding ENSG00000109971 5241 07205 600816 REVIEWED 732480 HSPB1 heat shock 27kDa protein 1 The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq, Oct 2008] 7 7 q11.23 75769859 75771548 + 75931875 75933614 + 1580863;6480530;6480464;1304397;6907045;7240710 11746764;12834255 20514530;21081267;20363977;11003656;16130169;10859165;12493773;19461484;19373869;19350847;19335999;19214136;19176359;19088045;19020532;21335933;18952241;18950704;18949417;18832141;18800238;18720982;18692580;18587268;18573886;18477563;18472181;18465403;18442089;18418731;18390476;18344398;18167217;18167130;18096692;18089808;18066588;18031542;18007587;17974989;17949744;17928890;17916631;17915561;17823891;17673262;17661346;17650072;17623484;17622316;17616692;17597071;17576382;17570131;17522120;17446863;17353931;17350752;17342744;17277149;17254968;17213227;17206383;17202147;17081983;17004241;16964243;16935933;21208199;16923754;16916647;16906418;16840786;16790501;16624816;16598774;16574891;16565220;16487519;16436384;16407830;16400691;16368711;16340246;16339078;16240287;16215937;16169070;16126176;16114012;16097034;16087758;16039988;15976317;15969449;15952740;15806174;15790570;15728188;15662019;15649839;15581903;15542604;15489334;15342556;15302935;15274119;15272315;15265704;15122254;15122253;15013707;14715258;14594798;12917439;12897149;12855565;12853948;12838549;12740362;12506142;12489163;12482203;12477932;12100179;12087068;11836590;11779227;11740592;11700327;11546764;11528513;11342557;11193028;11158571;11042204;10980706;10777697;10751411;10421803;9628874;9344682;9110174;8774846;8619474;8325890;7799959;3714473;2743305;2295696;2243808;1763035;1730670;1602151;1560006;19651786;21566277;22179576;22350794;22465083;1332886;11784858;15692053;20410505;21107776;19464326;21427224;16548883;18320359;18423118;19384818;19506078;19597476;19615732;19643972;19656944;19675578;19707199;19767773;19955928;19961396;20007907;20054128;20093746;20149037;20178975;20209605;20231684;20299368;20304146;20378850;20382164;20694586;19952398;20385876;20439495;20557877;19842058;20491124;21084594;19540014;20540527;20694452;16159877;20462503;20863832;21119665;22734906;21245386;22535481;22974980;20714862;11839738;23155000;23383273;18440775;21670152;21469165;21514288;21909836;22031878;22032827;21679777;23402259;23532854;23667531;16196087;21423207;23165430;21641913;17314511;20618440;21157431;21731611;21800051;21585617;21983720;22031759;21784846;22050627;22114076;22210387;22272318;10629618;17184779;18457437;19596686;21888831;22185976;22264079;23185379;15731106;21139048;21906983;22238643;17623298;18781797;21931298;21961414;21967197;21987572;22178446;9873047;21989268;22360420;22362414;21937138;22057845;22176143;20301462;22019951;10383393;11844797;14499342;23374503;8093612;16815975;21145461;22742457;9514881;23026841;23264215;17110338;19738201;19805454;21150319;21565611;21963094;21988832;22304920;22365833;22521462;22623428;22982087;23000965;23188086;23246001;23438482;22886594;22887120;22939629;22971995;12601044;17024176;19275587;21853274;21905118;22004109;22023707;22569359;22677112;22608953;22647853;23492367;23530064;22534325 3315 C9J3N8;F8WE04;Q9UC36 AB020027;ABBA01005913;AC006388;AK296890;AK311446;AK311894;AL050380;AMYH01017564;BC000510;BC012292;BC012768;BC014920;BC073768;BP231480;BT019888;CH471220;CR407614;CR536489;DQ379985;L39370;NG_008995;NM_001540;S74571;U90906;X16477;X54079 AAA62175;AAB20722;AAB51056;AAH00510;AAH12292;AAH12768;AAH14920;AAH73768;AAV38691;ABC88475;ABM82230;ABM84275;ABM85415;ABM87668;BAB17232;BAG34835;BAG59449;CAA34498;CAA38016;CAG28542;CAG38728;EAW71803;NP_001531;P04792 Hs.520973 1335509;1342116;2140619 D7S2204;D7S2435;G26375 CMT2F;DKFZp586P1322;HMN2B;HS.76067;HSP27;HSP28;Hsp25;SRP27 28 kDa heat shock protein;HSP 27;OTTHUMP00000161096;estrogen-regulated 24 kDa protein;heat shock 27 kDa protein;heat shock 27kD protein 1;heat shock protein beta-1;stress-responsive protein 27 APPROVED protein-coding ENSG00000106211 5246 09076 602195;606595;608634 REVIEWED 1347241 HSPBL1 heat shock 27kDa protein-like 1 2538929 3317 5250 1343256 HSPB6 heat shock protein, alpha-crystallin-related, B6 This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012] 19 19 q13.12 40937310 40939770 - 36245467 36247930 - 1580863;6480464 16225851;18790732;18787533;18755793;17109079;17084643;15489334;15057824;14717697;14702039;12842460;12820654;12477932;8195168;1602151;19491193;19646995;19845507;19850943;19464326;21081103;21731611;21641913;21978388;21803775;22427880;22450169;21905118;22794279;22731613 126393 K7EP04;O14558 ABBA01018763;ABBA01018764;AC002398;AJ278121;AK026458;AK056951;AK297852;AMYH01009732;BC068046;NG_031983;NM_144617 AAB81196;AAH68046;BAB71323;BAG60184;CAC81952;NP_653218;O14558 Hs.534538;Hs.744178 1693526;1847945;2166206;2219146 D19S615E;HSPB6__6602;RH78604;SHGC-58724 FLJ32389;Hsp20 OTTHUMP00000045795;heat shock 20 kDa-like protein p20;heat shock protein beta-6 APPROVED protein-coding ENSG00000004776 26511 08130 610695 REVIEWED 1323451 HSPA9 heat shock 70kDa protein 9 (mortalin) This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010] 5 5 q31.1 137918923 137939014 - 137890571 137911318 - 1580863;6480464;6784530;6784529;6784531;6784528;6784525;6907045 18219256;19657588;16565515;20817635;7629893 16130169;12493773;7684501;18063578;18977241;18829503;18770009;17934217;17719568;17635236;17601350;17573779;17460192;17050040;16619038;16425258;16344560;16329989;16236267;16176931;15957980;15635413;15489334;15324660;14702039;12827241;12729798;12646231;12477932;12470827;11932435;11900485;11869473;11790298;11187902;10964507;10838077;10617616;10510314;9150948;8313870;8125298;8076819;7829505;7698336;1286669;12832005;7906708;12009301;10411904;15520177;17643375;18029348;19280369;19739077;19940151;20053669;20153329;20152901;20392697;20877624;20199942;21145461;21319273;22366412;20100649;21145877;19394292;22863883;19875381;20391533;23084401;23106098;23184937;23284715;20974113;21530495;21233847;16335966;21496427;21640711;21832049;22939629;17184779;19596686;21738007;22079093;22114354;16196087;19167051;20000738;20171186;20186120;17955473;19343720;19765186;21081666;21714113;22586326;17620599;22266860;22001761;21907836;21139048;21890473;21906983;18781797;20805357;21825151;21987572;22013042;22022577;22162012;22178446;22683628;21252943;20473970;17400507;22544056;16212417;17979178;19659607;19738201;19805454;20195357;21565611;21963094;21965664;21988832;22340593;22904065;23182727;23246001;23349634;23398456;23438482;23455922;23541579;19275587;19380743;20856200;21738476;21763498;22268729;22505724;23319326 3313 D6RA73;D6RCD7;D6RDH7;D6RJI2;H0Y8K0;H0Y8S0;H0YBG6;Q9UC56 ABBA01068666;ABBA01068667;AC011385;AC113340;AK023317;AK222758;AK225488;AK293990;AK297795;AK297897;AK315177;AMYH01015642;AU130219;BC000478;BC024034;BC030634;BX426279;CH471062;DC356852;DQ185038;DQ480334;DQ531046;L11066;L15189;NG_029469;NM_004134 AAA67526;AAH00478;AAH24034;AAH30634;ABD14419;ABF19573;ABF50973;ABZ92510;ADZ15587;BAD96478;BAG37618;BAH11643;BAH12669;BAH12688;EAW62128;EAW62129;NP_004125;P38646 Hs.184233 1683930;1688310;1744291;1773456;1797716;2140510;2140717;5016478;5022578;5022649;5022651;5091116;5091323 A002P41;Bda02f10;D11S2875;D11S2921;D1S1423;D5S1564E;D5S2414;GDB:434012;GDB:451580;HSPA9B_1300;RH47439;RH67940;RH69016 CSA;GRP-75;GRP75;HSPA9B;MGC4500;MOT;MOT2;MTHSP75;PBP74;mot-2 75 kDa glucose-regulated protein;OTTHUMP00000159494;heat shock 70 kDa protein 9;heat shock 70kD protein 9B;heat shock 70kda protein 9b (mortalin-2);mortalin, perinuclear;mortalin-2;p66-mortalin;peptide-binding protein 74;stress-70 protein, mitochondrial APPROVED protein-coding ENSG00000113013 5244 02770 600548 REVIEWED 1343669 HSPCAL4 heat shock 90kDa protein 1, alpha-like 4 1740332 3325 5257 1348479 HSPCP2 heat shock 90kDa protein 1, beta pseudogene 2 3328 5260 736091 HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 1 1 1 p36.23-p34.3 14820429 14825190 - 16213111 16217538 - 16340523 16345285 - 61631;1580863;6480464 10593960 16710414;16189514;15489334;14702039;12477932;14594798;19913121;20628086;20124441;19464326;20038796;20877624;20975947;21731611;21832049;22785082 27129 C9J5A3;D3YTC6;F6SZA2;Q68DG0;Q8N241;Q9UBY9 ABBA01004687;AF155908;AJ243191;AK057295;AK075151;AK092275;AK095911;AL096775;AL355994;AL832181;AMYH01000276;BC006319;BX537990;CH471167;CR749298;CR749419;NM_014424 AAF20022;AAH06319;ABM83642;ABM86892;ABW03834;ACE86687;ACE87371;BAC03846;BAG51899;BAG52075;CAB63258;CAB86671;CAD97949;CAH18153;CAH18260;EAW51760;EAW51761;EAW51762;NP_055239;Q9UBY9 Hs.502612 1796022;1849315;2160563;2171032 HSPB7_990;SHGC-74268;SHGC-74270;SHGC-74273 DKFZp779D0968;FLJ32733;cvHSP OTTHUMP00000011122;OTTHUMP00000011123;OTTHUMP00000011124;OTTHUMP00000011125;OTTHUMP00000215420;cardiovascular heat shock protein;heat shock 27kD protein family, member 7 (cardiovascular);heat shock protein beta-7 protein-coding ENSG00000173641 5249 13684 610692 VALIDATED 2301501 HSPD1P1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 5 5 5 p14.3 21749805 21752050 + 21908032 21920644 + 21882626 21884875 + 20193073 643300 ABBA01066588;AC138940;AMYH01014966;NG_008757 HSPD1-2P pseudo 35133 INFERRED 1319285 HSPB9 heat shock protein, alpha-crystallin-related, B9 17 17 17 q21.2 36929793 36930408 + 37528395 37528874 + 40274756 40275371 + 1580863;6480464 15503857;15489334;14702039;12820654;12477932;11470154;5503857;19464326 94086 Q9BQS6 ABBA01006436;AC105024;AJ302068;AK093488;AK130947;AMYH01008391;BC093991;BC093993;BX280091;CH471152;NM_033194 AAH93991;AAH93993;BAG52728;CAC35727;EAW60804;NP_149971;Q9BQS6 Hs.620611 2220644 UniSTS:486977 CT51;FLJ27437 OTTHUMP00000164757;cancer/testis antigen 51;heat shock protein beta-9;small heat shock protein B9 protein-coding ENSG00000197723 30589 16319 608344 VALIDATED 2301275 HSPD1P12 heat shock 60kDa protein 1 (chaperonin) pseudogene 12 12 12 12 p13.31 9744621 9746373 + 8058723 8060674 + 8167556 8169307 + 20193073 283320 ABBA01012232;AC006511;AMYH01004224;NG_003217 HSPD1-10P pseudo 35140 INFERRED 3028763 HSPD1P13 heat shock 60kDa protein 1 (chaperonin) pseudogene 13 11 11 102741823 102742776 + 105577592 105578545 + 11237011;15496913;16554811;20193073 100462987 ABBA01039900;AMYH01004006;AP000641;NG_023061 HSPD1-16P pseudo 35138 INFERRED 3231841 HSPD1P14 heat shock 60kDa protein 1 (chaperonin) pseudogene 14 1 1 p35.1 32575873 32577489 + 34304122 34305738 + 20193073 100287140 ABBA01023373;AC116993;AL121980;AMYH01000482;NG_022774 1335854;1681103;1720551;1733044;1759067;1776670;2170369;2190801 AFM286zb1;D1S1397;D1S2783;D1S3152;G59229;LOC127540;RH98973;SHGC-150964 HSPD1-17P pseudo 35143 INFERRED 1346187 HSPB8 heat shock 22kDa protein 8 The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008] 12 12 q24.23 118100978 118116934 + 119616595 119632551 + 1580863;6480464;7240710 14594798;10833516;11256614;19246680;18676680;18298377;18229450;18094623;18006821;18006506;17922839;17722063;17304582;17173073;17033167;16935933;16795043;16709864;16485107;16225851;16189514;16086267;15879436;15541337;15498874;15489334;15122253;15021985;14702039;12832417;12477932;12456486;11816564;11591653;11470154;11342557;11295034;11230166;11180006;11085516;10777663;8817349;8433103;7125978;5813127;3789668;3022865;1517763;22302993;21526341;21983727;19464326;19170196;19625176;19692168;19783089;19845507;20237496;20858900;20819778;20157854;20570967;21731611;21767525;21678403;21985219;21963094;21696420;14985082;21914495;22176143;20301462;22595202;22939629;21905118;22898869 26353 H0YG30;Q9UJY1 ABBA01020071;AC084880;AF133207;AF191017;AF217987;AF250138;AK001825;AK312501;AL136936;AMYH01004788;BC002673;BT006876;CH471054;CR533453;NG_007953;NM_014365 AAD55359;AAF09481;AAF65562;AAG17230;AAH02673;AAP35522;ABM87403;ABW03880;BAG35403;CAB66870;CAG38484;EAW98144;NP_055180;Q9UJY1 Hs.400095 1342084;1664692;2157710 A002J47;D12S76;SHGC-56631 CMT2L;DHMN2;E2IG1;H11;HMN2;HMN2A;HSP22 E2-induced gene 1 protein;OTTHUMP00000239768;alpha-crystallin C chain;heat shock 27kDa protein 8;heat shock protein beta-8;protein kinase H11;small stress protein-like protein HSP22 APPROVED protein-coding ENSG00000152137 30171 06420 158590;608014;608673 REVIEWED 3028765 HSPD1P16 heat shock 60kDa protein 1 (chaperonin) pseudogene 16 6 6 153760638 153760955 + 153026933 153027250 + 11237011;14574404;15496913;20193073 100462985 ABBA01025616;AL390960;AMYH01016747;NG_023060 HSPD1-13P pseudo 35128 INFERRED 3028764 HSPD1P17 heat shock 60kDa protein 1 (chaperonin) pseudogene 17 10 10 44235029 44235169 + 50648862 50649002 + 11237011;15164054;15496913;20193073 100462986 ABBA01041071;AL138760;AMYH01002642;NG_023064 HSPD1-19P pseudo 35147 INFERRED 3497315 HSPD1P18 heat shock 60kDa protein 1 (chaperonin) pseudogene 18 5 5 q31.1 131841459 131841954 - 135716704 135717199 - 11237011;15372022;15496913;20193073 100359397 ABBA01068717;AC063980;AMYH01015630;NG_016481 HSPD1-1P pseudo 35136 INFERRED 2946602 HSPD1P19 heat shock 60kDa protein 1 (chaperonin) pseudogene 19 20 20 53412727 53415779 + 56672278 56675330 + 11237011;11780052;15496913;20193073 100463288 ABBA01052938;AL354984;AMYH01012016;NG_023062 HSPD1-18P pseudo 38590 INFERRED 1352308 HSPBAP1 HSPB (heat shock 27kDa) associated protein 1 This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011] 3 3 3 q21.1 120868679 120922738 - 123941536 123995340 - 122458844 122512666 - 6480464 17568411;14702039;12477932;11978969;16169070;21900206;21906983 79663 A8K045;Q96EW2 ABBA01016466;ABBA01016467;AC048348;AF400663;AK026276;AK096705;AK289410;AMYH01013430;AMYH01013431;AMYH01013432;BC011897;BC017763;BC063629;BI912690;BU630355;CH471052;NG_030032;NM_024610 AAH11897;AAH17763;AAH63629;AAM64044;ABM83992;ABM87318;BAB15425;BAC04847;BAF82099;EAW79463;EAW79464;EAW79465;EAW79466;NP_078886;Q96EW2 Hs.29169 1672182;1776773;2161923;2181153 L17658;RH17570;RH78844;SHGC-34248 FLJ22623;FLJ39386;PASS1 27 kDa heat shock protein-associated protein 1;HSPB1-associated protein 1;OTTHUMP00000215800;heat shock 27 kDa associated protein;protein associated with small stress protein 1;protein associating with small stress protein PASS1 APPROVED protein-coding ENSG00000169087 16389 12197 608263 REVIEWED 3028762 HSPD1P20 heat shock 60kDa protein 1 (chaperonin) pseudogene 20 12 12 80066346 80066934 - 80399767 80400355 - 11237011;15496913;16541075;20193073 100462989 ABBA01053498;AC074270;AMYH01004610;NG_023065 HSPD1-20P pseudo 38591 INFERRED 3028761 HSPD1P21 heat shock 60kDa protein 1 (chaperonin) pseudogene 21 20 20 40877134 40877445 - 44168614 44168925 - 11237011;11780052;15496913;20193073 100462990 ABBA01052660;AL031663;AMYH01011937;NG_023059 HSPD1-3P pseudo 38592 INFERRED 4892149 HSPD1P22 heat shock 60kDa protein 1 (chaperonin) pseudogene 22 5 5 57954829 57955275 - 60958673 60959119 - 11237011;15372022;15496913;20193073 100462984 ABBA01048371;AC026746;AMYH01015114;NG_023066 1681885 RH92005 HSPD1-21P pseudo 39502 INFERRED 1351221 HSPD1P3 heat shock 60kDa protein 1 (chaperonin) pseudogene 3 8 8 p23.1 7263666 7265553 + 7248860 7278554 + 1980192;20193073 3332 AC130360;AMYH01018319;M34660;M34661;M34663;NG_001145 HSP60P1;HSP60P3;HSP60P4;HSPD1-7P;HSPDP1;HSPDP3;HSPDP4 pseudo 5264 INFERRED 2301488 HSPD1P4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 12 12 12 q13.3 56557846 56560095 + 55190996 55193374 + 56904725 56906974 + 20193073 644745 ABBA01008426;AC097104;AMYH01004505;NG_008756 HSPD1-5P pseudo 35146 INFERRED 3563938 HSPD1P10 heat shock 60kDa protein 1 (chaperonin) pseudogene 10 6 6 6 q15 88427163 88428835 + 88065209 88066899 + 88008490 88010162 + 20193073 644016 ABBA01040492;AL096817;AL160258;AMYH01016493;NG_021117 HSPD1-4P pseudo 35131 INFERRED 3497316 HSPD1P11 heat shock 60kDa protein 1 (chaperonin) pseudogene 11 5 5 q15 90983486 90985620 + 95104751 95106885 + 11237011;15372022;15496913;20193073 100359396 ABBA01069246;AC008840;AMYH01015490;NG_016480 1669039 L28220 HSPD1-11P pseudo 35142 INFERRED 1352375 HSPD1P2 heat shock 60kDa protein 1 (chaperonin) pseudogene 2 8 8 p23.1 7785929 7787630 - 7748319 7750279 - 1980192;20193073 645808 ABBA01170229;AC130365;AMYH01018392;M34662;NG_001146;NG_023301 HSP60P2;HSPD-9P;HSPDP2 pseudo 5263 INFERRED 3077860 HSPD1P15 heat shock 60kDa protein 1 (chaperonin) pseudogene 15 5 5 5 p14.3 19895236 19896409 + 19269232 19270359 + 19233475 19234648 + 20193073 646273 ABBA01054558;AC106803;AMYH01014952;NG_016584 HSPD1-15P pseudo 35130 INFERRED 1346956 HSPD1P6 heat shock 60kDa protein 1 (chaperonin) pseudogene 6 3 3 3 p22.2 36751028 36753115 - 36783495 36785320 - 36808291 36810378 - 1980192;20193073 645548 ABBA01024868;AC105749;AMYH01013083;NG_008828 HSPD1-6P;HSPDP6 pseudo 5267 INFERRED 1347192 HSPD1P7 heat shock 60kDa protein 1 (chaperonin) pseudogene 7 21 21 21 q21.3 15442583 15444931 - 29181101 29183649 - 30259308 30261656 - 6480464 10830953;20193073 54047 ABBA01057245;AF227510;AMYH01012186;NG_000920 HSPD1-22P;HSPDP7 pseudo 5268 INFERRED 1349707 HSPDP1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 p23.1 1980192 3330 M34660;NG_001145 HSP60P1 pseudo 5262 2837641 HSPD1P8 heat shock 60kDa protein 1 (chaperonin) pseudogene 8 13 13 13 q31.1 60323694 60325671 + 78321237 78342745 + 79423366 79425343 + 20125193;20193073 647298 ABBA01021683;AL354869;AMYH01005226;NG_011337 HSPD1-12P pseudo 35145 INFERRED 1353921 HSPDP4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 1980192 3333 M34663;NG_001148 HSP60P4 pseudo 5265 2902551 HSPD1P9 heat shock 60kDa protein 1 (chaperonin) pseudogene 9 13 13 13 q13.3 19620753 19622673 - 37465181 37466857 - 38566982 38568902 - 20193073 646910 ABBA01021328;AL356495;AMYH01005043;NG_016588 HSPD1-14P pseudo 35132 INFERRED 1354138 HSPE1P1 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 1 20 20 20 q12 35272063 35272380 - 37994878 37995395 - 38561564 38561881 - 140895 ABBA01052555;AL133419;AMYH01011909;NG_001006 HSPEP1;bA101E14.1 APPROVED pseudo 16530 INFERRED 734029 HSPBP1 HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 19 19 q13.42 60465519 60483285 - 55773591 55791751 - 6480464;6907045 9830037;16169070;19183265;18987994;18986301;18261988;17855353;17208201;16950797;16713569;16677834;16341674;16303743;16189514;16169850;15694338;15489334;15215316;14761400;14702039;14503850;12651857;12477932;12417338;10786638;9727490;16831871;19659607;20694586;22863883;21832049;21139048;21890473;22037021;16207813;19380743;21247889;22505724 23640 C9JNI7;K7EKM6;K7EL16;K7EMM7;K7EN20;K7EQQ0;K7ERT9;Q9NZL4 AB020592;ABBA01068112;ABBA01068113;ABBA01068114;AC008974;AC116338;AC116342;AF093420;AF187859;AF217996;AK075293;AK129755;AK130636;AK130781;AK294358;AMYH01009988;AMYH01009989;BC001236;BC002373;BM853303;BU630679;CH471135;CQ783429;CR457118;NM_001130106;NM_012267 AAC79703;AAF35833;AAG17238;AAH01236;AAH02373;ABM84496;ABM85350;ABW03719;BAB18742;BAC85399;BAG52102;BAG57622;CAF86633;CAG33399;EAW72355;EAW72356;EAW72357;EAW72358;NP_001123578;NP_036399;Q9NZL4 Hs.53066 2130696 STS-AA012918 FES1 Hsp70 binding protein 1;heat shock protein-binding protein 1;hsp70 interacting protein;hsp70-binding protein 1;hsp70-binding protein 2;hsp70-interacting protein 1;hsp70-interacting protein 2;hspBP2 protein-coding ENSG00000133265 24989 09991 612939 VALIDATED 1350790 HSPE1P2 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 2 14 14 14 q23.2 44118847 44119310 + 63137841 63138505 + 64068189 64068652 + 326300 ABBA01018330;AL136038;AMYH01005793;NG_002552 HSPEP2 APPROVED pseudo 20052 INFERRED 1344367 HSPD1P5 heat shock 60kDa protein 1 (chaperonin) pseudogene 5 4 4 4 q31.21 143094128 143096223 + 145986228 145988064 + 145766717 145768812 + 1980192;20193073 345041 ABBA01070019;AC109811;AMYH01014591;NG_008700 HSPD1-8P;HSPDP5 pseudo 5266 INFERRED 1345521 HTATSF1P HIV TAT specific factor 1 pseudogene 387039 13959 1351428 HSPG2 heparan sulfate proteoglycan 2 This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and Transthyretin, etc. and plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and Tardive dyskinesia.[provided by RefSeq, Mar 2010] 1 1 p36.1-p34 22021324 22136337 - 22148737 22263750 - 1624255;1624258;1624267;1624254;1624265;1580863;5510033;6480464;6907045;7240710 15056491;8225534;11101850;16620836;9068943;21720682 1569102;11956183;19506372;19066875;18658137;18024432;17356275;16984910;16914267;16407285;16335952;16283481;16269412;16129435;15905187;15657057;15567441;15240572;15211644;15081423;15031130;14974815;14973356;14702039;14630925;14625044;14563633;12900424;12811819;12754519;12477932;12435733;12036876;11968010;11941538;11847221;11847210;11493006;11279527;11148217;10702276;10579711;10545953;9733643;9692901;9688542;9431988;9313766;9307034;9136074;8541852;8234307;7500359;2745554;2687294;1730768;1685141;1679749;21255062;11574465;12604605;15231748;15591058;16713569;16927315;19553700;19669783;19788922;19789387;19839757;19889475;20053631;20072119;20074558;20452482;20507176;20690028;19913121;20628086;20673868;16570819;23060442;21596751;23374253;21078624;19738201;22643235;22003087;22076637;22318606;22457785;23568740;21126803;21808285;23235151;23104139;23336978;23436656;19380743;23161552 3339 H0Y3B2;H0Y5A9;H7BYA5;H7C4A6;P98160;Q5SZI5;Q5SZI9;Q5SZJ1;Q5SZJ2 AA507437;AB209851;ABBA01059833;ABBA01059834;AF479675;AI131329;AK126516;AL445795;AL590103;AL590556;AMYH01000341;BC033152;BC109204;BG056875;CA407545;CD518822;CH471134;CX165450;M64283;M85289;NG_016740;NM_005529;S76436;U41286;X62515 AAA52699;AAA52700;AAB21121;AAB95116;AAI09205;AAL79552;BAD93088;CAA44373;CAC18534;EAW94994;EAW94995;EAW94996;EAW94997;NP_005520;P98160 Hs.562227 1687926;1733102;1744665;1774385;1775748;2137094;5015861;7185938 D10S16;D1S1432;G15904;GDB:549190;RH79675;SHGC-74354;STS-M85289 HSPG;PLC;PRCAN;SJA;SJS;SJS1 HSPG;OTTHUMP00000002765;basement membrane-specific heparan sulfate proteoglycan core protein;endorepellin (domain V region);heparan sulfate proteoglycan 2 (perlecan);perlecan proteoglycan APPROVED protein-coding ENSG00000142798 5273 00804 142461;224410;255800 REVIEWED 1351970 HTC1 hypertrichosis 1 (universalis, congenital) 7240710 3341 5277 1350965 HTC2 hypertrichosis 2 (generalised, congenital) 7240710 3342 5278 1343388 HTL high L-leucine transport 6717430 3343 5280 151310 1345515 HTLVR human T-cell leukemia virus (I and II) receptor 9330634;3201246 3345 5282 143090 733895 HSPD1 heat shock 60kDa protein 1 (chaperonin) This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010] 2 2 q33.1 198059553 198073243 - 198351308 198364998 - 1624212;1580863;1624216;1624229;1624218;1624228;1624230;1624200;1624204;1581882;1624213;1624232;1624234;1624236;1624240;1624244;1624243;1624250;1624217;1624233;1624238;1624246;6480464;6907045;7240710 15961182;12921987;17280490;11222468;17439344;17202668;11898127;17070529;16579988;15729290;16675490;16288780;16092147;15804863;15529360;15802185;12872233;12059985;16483253;15964663;14753490 8559246;20471030;11862386;11860186;11790298;11689615;11591125;11488911;11337467;11230124;11145923;11144526;10960671;10811634;10731000;10677329;10632533;10499815;10467106;10449265;10382997;10326659;10231004;10231001;10205159;9890926;9724719;9150948;9150946;9051195;8979276;8976559;8882520;8845058;8689794;8678928;8676499;8671282;16320351;16254226;16253146;16236267;16215457;16130169;16116071;15957980;15952740;15879154;15784682;15763499;15661886;15635413;15592455;15590416;15546885;15489334;15324660;15251360;15249499;15242332;14500649;12965262;12942564;12890148;12869561;12813381;12768547;12686536;12665801;12611882;12594256;12552239;12515899;12493773;12483302;12477932;12461076;12406306;12387818;12218165;12215374;12195124;12105158;12070120;11932435;11888933;11807771;10205158;18086682;11050098;16148103;17823127;17164250;10663613;9243807;11445587;18229457;19369584;19346294;19336475;19306954;19264393;19261350;19210880;19207939;19132982;19110265;19109096;19106391;19022255;19008717;18987317;18815895;18790094;18692161;18571143;18458233;18400758;18399535;18372523;18322079;18320357;18240224;17925998;17915559;17675567;17670764;17588138;17553457;17420924;17420921;17206383;17202307;17174952;17075864;17072495;16978514;16964243;16887805;16843693;16767222;16705742;16482509;7911805;7895732;7518175;2907406;2568584;7907543;2079031;1980192;1972619;1602151;1516759;1347942;1286669;14634555;16075307;15875659;17681147;12234937;10508170;11777905;22319627;21145461;21319273;21361146;20362058;14968112;15371451;17540176;17643375;18029348;18256040;18319262;19004824;19205928;19386281;19423133;19475432;19565483;19568603;19576649;19706612;19764566;19875724;19913588;20193073;20694586;20708221;20806039;20936779;20351780;20877624;20082317;20169074;16159877;20978188;20686813;19635199;20953657;21497776;22863883;23028910;16196087;17317785;16335966;21642380;19343720;19765186;21081666;21671464;16723087;19338310;23424650;23455922;23798571;22492505;21832049;22848686;22939629;20947377;15047060;17314511;19156129;20186120;18457437;18781797;20639865;20972266;21139048;21717087;21726808;21748374;21840382;21890473;21906983;21987572;22079093;22178446;23466130;16009940;17148442;18685789;22575645;12684064;19471022;22140545;22315307;22847064;23398456;15618521;16212417;17110338;19738201;19805454;21963094;21988832;22304920;22623428;22751105;22810585;22882677;22904065;23000965;23077236;23106098;23184937;23246001;23349634;23438482;22901435;17584768;19380743;21853274;22012253;22505724;22753410;22933632;22944692;22258649;22931585;23276948 3329 B7Z712;C9J0S9;C9JCQ4;C9JL19;C9JL25;E7ESH4;E7EXB4;F8WBB1;P10809 ABBA01062482;AC010746;AC020550;AC114809;AF380943;AJ250915;AK297305;AK298368;AK298632;AK298844;AK301276;AK312240;AMYH01011388;AU098504;BC002676;BC003030;BC047350;BC067082;BC073746;BG701476;BX647145;CH471063;CS611909;DQ217936;EU719626;M22382;M34664;NG_008915;NM_002156;NM_199440 AAA36022;AAA60127;AAH02676;AAH03030;AAH67082;AAH73746;AAK60260;AAX93145;AAY24018;ABB01006;ABM84340;ABM87770;ACE06961;BAG35173;BAH12542;BAH12768;BAH12833;BAH12883;BAH13448;CAB75426;CAO02240;EAW70148;EAW70149;EAW70150;EAW70151;EAW70152;EAW70153;NP_002147;NP_955472;P10809 Hs.595053;Hs.727543 1340605;1669039;5016752;5016767;5126067 D2S2318;G06434;L28220;RH67923;RH69100 CPN60;GROEL;HLD4;HSP-60;HSP60;HSP65;HuCHA60;SPG13 60 kDa chaperonin;60 kDa heat shock protein, mitochondrial;HSP-60;OTTHUMP00000205744;P60 lymphocyte protein;chaperonin 60;heat shock protein 60 (liver);heat shock protein 65;mitochondrial matrix protein P1;short heat shock protein 60 Hsp60s1 APPROVED protein-coding ENSG00000144381 5261 00318 118190;605280;612233 REVIEWED 1602154 HTATSF1P2 HIV-1 Tat specific factor 1 pseudogene 2 6 6 6 p25.2 4249404 4254018 - 2965787 2970004 - 3020390 3025005 - 12477932 401233 Q6ZR97 ABBA01048622;AK128391;AL133351;AMYH01016029;BX648511;NR_033884 BAC87416 Hs.441039;Hs.744511 1651739;1670527;1673453;1679056;1725613;1735584;5014051;5016781;5020740;5022651;5024413 D11S2921;D6S1108E;D8S2278;G62093;L17809;L17877;RH94182;SHGC-30249;SHGC-57006;SHGC-67307;STS-J02888 APPROVED pseudo 38586 18424 VALIDATED 1346030 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator 7240710 3349 5285 143460 733544 HSPE1 heat shock 10kDa protein 1 (chaperonin 10) This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011] 2 2 q33.1 198073365 198076416 + 198364721 198368187 + 6480464 10205158;7916212;12483302;7698325;19520060;19142874;18987317;18500265;18465204;18329043;17419711;17278877;17072495;16979655;16502466;16253146;16169070;16100270;15978542;15816004;15635413;15590416;15546885;15489334;15146197;15059967;14525625;12970367;12967636;12860287;12703979;12477932;12387818;12220543;11898127;11689615;11329013;11050098;10763410;7914093;7912672;17353931;21319273;18319262;19004824;19903031;9989505;20877624;22863883;22939629;21375247;21139048;21890473;21906983;21628590;19738201;19805454;21988832;22304920;22623428;22810585;23000965;23383273;22505724 3336 B8ZZ54;B8ZZL8;P61604 ABBA01062482;AC020550;AF109872;AJ250915;AK312104;AMYH01011388;BC023518;BG188453;CH471063;CN264788;CR407688;NG_008914;NG_008915;NM_002157;U07550;X75821 AAA50953;AAC96332;AAH23518;AAX93146;ABM83886;ABM87206;BAG35040;CAA53455;CAB75425;CAG28616;EAW70154;EAW70155;EAW70156;EAW70157;EAW70158;EAW70159;EAW70160;EAW70161;EAW70162;EAW70163;NP_002148;P61604 Hs.1197 5015737;5111577 D12S1803;D15S1344 CPN10;EPF;GROES;HSP10 10 kDa chaperonin;10 kDa heat shock protein, mitochondrial;EPF;OTTHUMP00000163630;OTTHUMP00000205751;OTTHUMP00000205752;chaperonin 10;early-pregnancy factor;heat shock 10 kda protein 1;heat shock 10kD protein 1 (chaperonin 10) APPROVED protein-coding ENSG00000115541 5269 02535 600141 REVIEWED 1320556 HTATIP2 HIV-1 Tat interactive protein 2, 30kDa 11 11 p15.1 20341807 20361905 + 20385231 20405329 + 6480464 9482853;15282309;10611237;9174052;11313954;19349353;19104151;19027726;19010857;18972434;18537194;18528861;18519672;17997990;17097132;16799960;16615932;15728189;15633220;15493507;15489334;15342556;15124103;15073177;14695192;12477932;10892349;10698937;10395547;8125298;21150275;20374651;18029348;19839715;19798571;21252234;21731680;21543106;21987572;21139048;21890473;21906983;23178973;21963094;23000965;23251661;22490293;22733137 10553 E9PI87;Q6IBI3 ABBA01061034;AC025972;AF039103;AF092095;AI193677;AK130473;AK222969;AK223010;AK292092;AMYH01003434;AW963626;BC002439;BC015358;BF681178;BP382529;CH471064;CR456821;DB450790;NM_001098520;NM_001098521;NM_001098522;NM_001098523;NM_006410;U69161 AAB84360;AAC39694;AAC78331;AAH02439;AAH15358;ABZ92511;BAD96689;BAD96730;BAF84781;CAG33102;EAW68337;EAW68338;EAW68339;EAW68340;EAW68341;NP_001091990;NP_001091991;NP_001091992;NP_001091993;NP_006401;Q9BUP3 Hs.90753 2175747;5091422 G29234;SGC34227 CC3;FLJ26963;SDR44U1;TIP30 30 kDa HIV-1 TAT-interacting protein;HIV-1 TAT-interactive protein 2;OTTHUMP00000231703;OTTHUMP00000231704;OTTHUMP00000231705;OTTHUMP00000231706;OTTHUMP00000231707;OTTHUMP00000232023;Tat-interacting protein (30kD);oxidoreductase HTATIP2;short chain dehydrogenase/reductase family 44U, member 1 protein-coding ENSG00000109854 16637 09288 605628 VALIDATED 1323157 HSPH1 heat shock 105kDa/110kDa protein 1 13 13 q12.3 30608762 30634117 - 31710762 31736117 - 1580863;6480464;6907045 9931472;19476517;18477890;18083346;17081983;16964243;16232202;16083285;15489334;15345747;15057823;14733918;14534695;12853125;12749852;12558502;12477932;10865058;10772927;9675148;9610721;9039502;1602151;16169070;14563843;21145461;20542028;12952910;22863883;22901192;22939629;20811636;17314511;18029348;20810990;21860023;21628590;22505710;18781797;20639865;21139048;21693764;21890473;21906983;18654987;21822214;22053931;22190034;22505724;22712230 10808 B4DY72;B4DYH1;Q5TBM3;Q92598;R4GN69 AB003333;AB003334;ABBA01010121;AF039695;AK293955;AK302294;AK302430;AK302832;AK303029;AK307597;AK311464;AK314576;AL137142;AMYH01005013;BC018124;BC037553;BX648125;BX648623;CD251908;CH471075;D86956;NM_006644 AAC18044;AAH37553;ABM82653;ABM85830;BAA13192;BAA34779;BAA34780;BAG57329;BAG63634;BAG63733;BAG64026;BAG64155;EAX08477;EAX08478;EAX08479;EAX08480;EAX08481;EAX08482;NP_006635;Q92598 Hs.743267 1340779;1654121;1767262;1852913;2143960;2169255 A002P33;A004B05;D13S1287;D13S903;HSC2EB012;RH25414 DKFZp686M05240;HSP105;HSP105A;HSP105B;KIAA0201;NY-CO-25 OTTHUMP00000018208;OTTHUMP00000018209;OTTHUMP00000018210;antigen NY-CO-25;heat shock 105kD alpha;heat shock 105kD beta;heat shock 105kDa protein 1;heat shock 110 kDa protein;heat shock protein 105 kDa protein-coding ENSG00000120694 16969 09990 610703 VALIDATED 1353028 HTN1 histatin 1 4 4 q13 70950748 70959148 + 70916159 70924559 + 1580863;6480464 10728974;16203048;3286634;8336540;19060311;18650243;17503797;15489334;12832472;12711380;12477932;12060866;11570863;8600179;3944083;2773933;2719677;2372245;9109822;20237496;2303595;23001880 3346 P15515 ABBA01022923;AC063956;AMYH01014272;BC017835;CH471057;CR627329;L04131;L04132;L05512;M26664;NM_002159 AAA02745;AAA58645;AAH17835;EAX05607;NP_002150;P15515 Hs.250959 1680461;5118342 D11S3206;RH93320 HIS1 OTTHUMP00000159763;OTTHUMP00000219877;PPB;histatin-1;histidine-rich protein 1;post-PB protein protein-coding ENSG00000126550 5283 00814 142701 VALIDATED 1350130 HTR1DP1 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 12 1261423 1262203 - 8444354;8444354 100421479;3353 ABBA01048829;AC004802;AMYH01004169;NG_023961 pseudo 5290 INFERRED 1344524 HTATSF1 HIV-1 Tat specific factor 1 The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009] X X q26.3 135407337 135422156 + 135579238 135594505 + 1580863;6480464 15905670;10454543;17353931;18029348;19479034;17081983;16565220;16512786;21145461;15772651;15564463;15489334;15485897;15345747;15050687;12477932;11780068;11420046;10964778;10913173;10393184;9765201;9710584;9649438;8849451;8125298;16169070;21282347;17332742;19952111;16055720;22863883;23022380;22939629;20360068;20639865;19471022;21139048;21890473;21906983;21963094;17620599;19836239;15231748;22053931;22113938;22365833;23000965;23153325;18187620;19966273 27336 O43719;Q5H918;Q5H919 AB209303;ABBA01055912;ABBA01055913;ABBA01055914;AK225870;AK299403;AMYH01023049;BC009896;BT006886;BU633070;CH471150;NG_013235;NM_001163280;NM_014500;U76992;Z97632 AAB18823;AAH09896;AAP35532;ABW03796;BAD92540;BAG61386;EAW88468;EAW88469;NP_001156752;NP_055315;O43719 Hs.204475 1645522;1770936;2108787;2148720 HTATSF1_3575.2;RH48015;RH48850;STS-U76992 TAT-SF1;TATSF1;dJ196E23.2 HIV TAT specific factor 1;HIV Tat-specific factor 1;OTTHUMP00000024126;cofactor required for Tat activation of HIV-1 transcription APPROVED protein-coding ENSG00000102241 5276 02282 300346 REVIEWED 731005 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled The neurotransmitter serotonin (5-hydroxytryptamine; 5-HT) exerts a wide variety of physiologic functions through a multiplicity of receptors and may be involved in human neuropsychiatric disorders such as anxiety, depression, or migraine. These receptors consist of several main groups subdivided into several distinct subtypes on the basis of their pharmacologic characteristics, coupling to intracellular second messengers, and distribution within the nervous system (Zifa and Fillion, 1992 [PubMed 1359584]). The serotonergic receptors belong to the multigene family of receptors coupled to guanine nucleotide-binding proteins.[supplied by OMIM, Oct 2009] 6 6 q13 78228667 78229839 - 78171948 78173120 - 1580863;1358660;1358661;1626449;1626447;1626451;1626450;1626470;1626473;1626445;1626453;6480464 12556913;14714219;11739290;11882579;17542534;10564740;16165284;15698923;12393100;17452372 16400147;16344719;16310769;16197923;15944142;15717291;15700286;15698927;15670397;15489334;15365222;15318027;15211620;15109354;15108179;14744462;14730192;14593427;14574404;14504413;12898580;12877392;12627464;12497617;12496953;12477932;12192616;12022963;11956970;11854302;11827742;11751038;11690602;11578619;11496363;11378847;17353931;1315531;1559993;1351684;19352218;19350534;19325252;19156168;19086053;19058789;19038234;19032968;18937842;18855532;18821566;18676680;18430065;18349694;18283276;18270970;18253134;18035351;17948897;17563839;17525973;17510950;17503984;17501935;17501853;17427194;17417740;17325714;17241828;17093889;17011639;16958036;16856120;16847428;16770336;16443280;11140838;11104852;8700126;8218242;7802650;1610347;1565658;1359584;1348246;1328844;11247661;20480149;18240029;18583979;19170196;19455600;19506906;19519719;19625176;19626271;19639876;19673036;19692168;19721846;19756364;19829169;19874574;19897250;19936617;20010449;20071033;20388441;20398908;20435093;20468064;20545463;8882600;2834384;18577758;20538960;19913121;20565774;20628086;20638825;21169892;21172311;20674037;22522758;21711518;21478802;21906503;21839728;22575343;23519210;22005095;22106445;22172591;22493371;22240001;22420486;22550993;23177301;22851636 3351 P28222 AB041370;ABBA01040387;AK290080;AK315325;AL049595;AMYH01016445;AY225227;BC069065;BC096206;BC096207;BC096208;CH471051;D10995;L09732;M75128;M81590;M83180;NM_000863 AAA36029;AAA36030;AAA58675;AAA60316;AAH69065;AAH96206;AAH96207;AAH96208;AAO67712;BAA01763;BAA94455;BAF82769;BAG37726;EAW48722;NP_000854;P28222 Hs.123016 1744899;1744901;1744903;1744905;1744907;1744909;1744911;1744913;1744915;1745359;1745361;1745363;1794330;1796026;2159864;5492467 GDB:580593;GDB:580596;GDB:580599;GDB:580603;GDB:580608;GDB:580611;GDB:580614;GDB:580618;GDB:580621;GDB:603580;GDB:603584;GDB:603594;HTR1B_992;PMC311033P3;RH47746;UniSTS:481202 5-HT1B;5-HT1DB;HTR1D2;HTR1DB;S12 5-HT-1B;5-HT-1D-beta;5-hydroxytryptamine receptor 1B;OTTHUMP00000016769;serotonin 1D beta receptor;serotonin receptor 1B APPROVED protein-coding 5287 01634 182131 PROVISIONAL 6481293 HTR2A-AS1 HTR2A antisense RNA 1 q14.2 21173788 100874082 AI076014;AI216351;AI914390;AL160397;AW469493;NR_046612;NR_103752 Hs.569281 APPROVED miscrna 40289 VALIDATED 69020 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012] 5 5 q11.2-q13 63292034 63293302 - 63255875 63258119 - 737702;1580863;737704;5683632;6480464;5683627;5683633;5683630;5683634;5683628;5683629;5683631 9826725;9844013;20508993;21945716;20508280;21421022;10578452;21352823;21512427;20817074 21605442;9736659;1330092;3138543;19455600;19439818;19381154;19339052;19330775;19326813;19309202;19278673;19224112;19170664;19162119;19156168;19124686;19105200;19095219;19086053;19077664;19060480;19052756;19032968;18982004;18971477;18962444;18937842;18855532;18849890;18848359;18841018;18832011;18826444;18796187;18761712;18727636;18715570;18707693;18706198;18675780;18663369;18644006;18639564;18606193;18593952;18583156;18573276;18562131;18561871;18484082;18394726;18387740;18387137;18334271;18308786;18286597;18270970;18268499;18181968;18163385;18079067;18047755;17906010;17888419;17724868;17661792;17655760;17570737;17543959;17540717;17507923;17504248;17493586;17466494;17438519;17426452;17420412;17417740;17408646;17401528;17217240;17208318;17203973;17203304;17192951;17123166;17092965;15498580;15489334;15469667;15458611;15447813;15211620;15148501;15111672;15052272;15048689;14998306;14984628;14744462;14736842;14666415;14573316;14507979;12969265;12759158;12650852;12559389;12522576;12477932;12181435;12062903;11992564;11989622;11854302;11814436;11163544;11140838;9754630;8626793;8393041;7755630;3041227;2591972;2052135;1766875;1685484;1559993;17012696;17009264;16856120;16770336;16756688;16722981;16677618;16633140;16626484;16538182;16504134;16467535;16464220;16458487;16316476;16302021;16154547;16081372;15952185;15940302;15864118;15758168;15728438;15716853;15683551;15539859;15521063;20935630;22563461;22624739;22120873;19900711;21169892;18240029;19086022;19352591;19353636;19423080;19533293;19560507;19590397;19617338;19636338;19639876;19723504;19725031;19730445;19736291;19747927;19780043;19781522;19829169;19874574;19894072;19897250;19903365;19936617;19962444;19997044;20010450;20022223;20025927;20026342;20043001;20075642;20124538;20170167;20171159;20351714;20388441;20403354;20435093;20453658;20454985;20468064;20470849;20515362;20533011;8218170;19800133;20451351;20734064;20521763;18577758;2834384;20577624;20594600;20609217;20633049;20638825;20538346;21688171;22892071;22836176;21194755;21382916;21640070;20519060;21214634;21750580;21619616;21577007;22222329;22328058;21459095;21453976;22111663;22957663;21726540;22232550;22050514;20392296;21397953;21399903;16344560;22373128;22493371;21449006;21645534;21621273;23192369;23499153;21269332;22205572;21849982;17142836;22863653;23006663;22044630;23036158;23308375;22403020;22483975;23216389;23277246;23516322;23333373;22510520;22952650;22491354;22594670;22176604;22392387;22579604 3350 A8K5W4;D6RA34;P08908;Q5ZGX3 AB041403;ABBA01048345;AC122707;AF498978;AJ781317;AK291429;AK314187;AMYH01015125;BC069159;BC136263;CH471137;DA160783;DA223047;DA527925;M28269;M83181;NG_032816;NM_000524;S64045;X13556;X57829;Z11168 AAA36440;AAA66493;AAD13945;AAH69159;AAI36264;AAM21125;BAA94488;BAF84118;CAA31908;CAA40962;CAA77560;CAH03197;EAW51377;NP_000515;P08908 Hs.247940 2113790;2121018;5492549;5492913 HTR1A;RH70818;UniSTS:481605;UniSTS:483224 5-HT-1A;5-HT1A;5HT1a;ADRB2RL1;ADRBRL1;G-21;PFMCD 5-HT-1A;5-HT1a receptor;5-hydroxytryptamine receptor 1A;G protein coupled receptor;G-21;OTTHUMP00000221820;OTTHUMP00000221821;guanine nucleotide-binding regulatory protein-coupled receptor;serotonin receptor 1A APPROVED protein-coding 5286 00190 109760;614674 REVIEWED 1347774 HTN3 histatin 3 This gene encodes a member of the histatin family of small, histidine-rich salivary proteins. Histatins exhibit non-immunological, anti-microbial activity in the oral cavity. [provided by RefSeq, May 2009] 4 4 q13 70928765 70936836 + 70894130 70902255 + 1580863;6480464 12761219;12477932;12183519;11816973;11226423;11179305;10794615;10728974;8945538;7951254;3426601;2773933;2719677;2372245;2344289;2303595;16203048;3286634;8336540;19321452;18650243;18230684;17999963;17176059;15489334;15342556;15272024;14966203;19753800;20237496;20487276;21741339;22033918 3347 P15516 ABBA01022923;AC063956;AMYH01014272;BC009791;BC095438;BP332860;CB957931;CH471057;L05514;M18372;M26665;NG_012279;NM_000200;S74382 AAA02746;AAA51830;AAA58646;AAB32411;AAH09791;AAH95438;ABM83790;ABM87112;EAX05606;NP_000191;P15516 Hs.654442 1680461 RH93320 HIS2;HTN2;HTN5 OTTHUMP00000219123;OTTHUMP00000231665;OTTHUMP00000231666;PB;basic histidine-rich protein;histatin 5;histatin-3;histidine-rich protein 3;hst APPROVED protein-coding ENSG00000205649 5284 00815 142702 REVIEWED 734005 HTR1F 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 3 3 3 p12 88785845 88797020 + 88114416 88125609 + 88031726 88042919 + 70767;1580863;6480464 8384716 8380639;19156168;19086053;16856120;16254601;15489334;15190056;12627464;12477932;11916537;11888546;9632173;1328180;18240029;19455600;18577758;2834384;21457069 3355 P30939;Q9P2Q4 A74286;AB037533;ABBA01004632;AC119733;AC132004;AF498981;AMYH01013325;BC069125;BC096838;BX357988;CH471110;L04962;L05597;NM_000866 AAA36605;AAA36646;AAH69125;AAM21128;BAA90453;CAB58517;EAW68865;NP_000857;P30939 Hs.248136 1796030;1854512;2151898;5095040;5492479 HTR1F;HTR1F_996;RH46950;RH68987;UniSTS:481225 5-HT-1F;5-HT1F;5HT6;HTR1EL;MR77 5-HT-1F;5-hydroxytryptamine receptor 1F;serotonin receptor 1F APPROVED protein-coding 5292 01637 182134 VALIDATED 1350220 HTR1E 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 6 6 q14-q15 87704129 87783116 + 87647024 87726397 + 1580863;6480464 1733778;17353931;1608964;19156168;19086053;19058789;18937842;18821565;18079067;15489334;14574404;12627464;12477932;10391209;9316030;8001977;1513320;18240029;19455600;2834384;18577758 3354 P28566 AB041373;ABBA01040487;AF498980;AL157777;AL521170;AMYH01016490;AMYH01016491;BC069751;CH471051;M91467;M92826;NM_000865;Z11166 AAA58353;AAA58355;AAH69751;AAM21127;BAA94458;CAA77558;EAW48616;EAW48617;NP_000856;P28566 Hs.1611 1706896;1744197;1744199;1771373;2141325;2145356;2153320;2172184;5492653;5493607 AFM296tf1;D6S2061;G15845;GDB:435478;GDB:435482;RH46696;SHGC-80936;UniSTS:481920;UniSTS:489680;WI-18995 5-HT1E 5-HT-1E;5-hydroxytryptamine receptor 1E;OTTHUMP00000016823;S31;serotonin receptor 1E APPROVED protein-coding ENSG00000168830 5291 01635 182132 VALIDATED 736440 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 1 1 p36.3-p34.3 23390975 23393809 - 23518388 23521222 - 1580863;6480464 1565658;1652050;19156168;19086053;19032968;18855532;18676680;18582865;18557979;17940576;17501853;17203304;17099886;17068621;16806108;16710414;16059583;15489334;15109354;12740597;12650952;12627464;12477932;11854302;11140838;10391209;2541503;1662665;1315531;18577758;18240029;19170196;19455600;19625176;19692168;19878438;20468064;20545463;9186750;20946355;21079607;20602615;20633049;22107845;20881960 3352 P28221 ABBA01059864;AF498979;AL049576;AMYH01000358;BC007720;BT007027;CH471134;M81589;M89955;NM_000864 AAA35491;AAA60315;AAH07720;AAM21126;AAP35673;ABM84801;ABW03623;EAW95037;NP_000855;P28221 Hs.121482 1689446;1728555;1743705;1745137;1745271;1745273;1745765;1796028;2128746;5022649;5024039 D11S2875;D16S325;G63716;GDB:371366;GDB:595218;GDB:597566;GDB:597572;GDB:636095;HTR1D_994;RH98554;SHGC-74364 5-HT1D;HT1DA;HTR1DA;HTRL;RDC4 5-HT-1D;5-HT-1D-alpha;5-hydroxytryptamine receptor 1D;OTTHUMP00000003270;serotonin 1D alpha receptor;serotonin receptor 1D APPROVED protein-coding ENSG00000179546 5289 01636 182133 VALIDATED 730958 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor. [provided by RefSeq, Aug 2011] 11 11 q23.1 113280799 113322493 + 113775518 113817283 + 1580863;6480662;6480660;6480464 16487942;20838391 9950429;19328558;19185213;19156168;19086053;19058789;19008750;18982004;18937842;18807291;18698232;18518925;18389280;18300944;18187416;18184810;18079067;17697394;17010535;16874005;16534507;16314763;15887114;15389765;15293096;15115912;14557147;12867984;12775740;12750374;12363396;12359150;10521471;19713259;19741568;19874574;20021265;20075642;20168265;20351714;20356718;19794330;19913121;20602613;20602615;20628086;20538960;21184810;21840870;22832903 9177 H0YFX8;O95264 ABBA01039775;ABBA01039776;ABBA01039777;AF080582;AF169255;AK314268;AM293589;AMYH01004040;AP001874;CH471065;EF444985;NG_011483;NM_006028 AAD12242;AAF03691;AAI41516;ACA06001;BAG36930;CAL25321;EAW67236;NP_006019;O95264 Hs.241377 1341375;5020885 D1S2714;L17791 5-HT3B 5-HT3-B;5-hydroxytryptamine 3 receptor B subunit;5-hydroxytryptamine receptor 3B;OTTHUMP00000238333;OTTHUMP00000238334;serotonin receptor 3B;serotonin-gated ion channel subunit APPROVED protein-coding ENSG00000149305 5298 06875 604654 REVIEWED 736842 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] X X q24 113724807 114050880 + 113818551 114144624 + 1358737;1624991;1624982;1624993;1625000;1358736;1624996;1624998;1580863;2292548;6480464 8823764;15048662;17016522;16005997;17074317;8742444;17451674;17258772;16474401 16770336;18336767;18303585;18270970;18211617;18205001;18192901;18086475;18083778;18079067;17964050;17901921;17848916;17767148;17728663;17702092;17697626;17632216;17625040;17558446;17291373;17275977;17192951;17102980;17098333;17055531;17039480;16959425;16914526;16857671;16319069;7582481;7700379;9241279;18029348;19496825;19474754;19455600;19445671;19439249;19416518;19339052;19193342;19156168;19142110;19142101;19086053;19077438;19058789;19038234;19032968;19005330;18855532;18768750;18718676;18715570;18593952;18562401;18515891;18504633;18499489;18460774;18389501;16741915;16682118;16633140;16464220;16433010;16382194;16258205;16195233;16157158;16021472;15953671;15935077;15927089;15864111;15772651;15717291;15695058;15666332;15635667;15581469;15562295;15551195;15518545;15489334;15381968;15318026;15313842;15309390;15304380;15241435;15167695;15147464;15109354;15102340;15052272;14722258;14699441;14602721;14574222;12877392;12858032;12767050;12759158;12707936;12682077;12668355;12650852;12627464;12518270;12477932;12454564;12425817;12192608;12145300;12111480;12086765;12007749;12006486;11988167;11916537;11888546;11526472;11525423;11502363;11343611;11300730;11205431;11150294;11140838;11140333;10816555;10581480;10391209;10206230;9928237;9537516;9153397;8812491;7895773;7557992;1722404;1302605;21937795;22318606;21185157;12970106;15831837;18240029;18703043;18802918;19057895;19106782;19411841;19434072;19614978;19636338;19653017;19690620;19829168;19874574;19956635;19997080;20010449;20010450;20015120;20022223;20045196;20060656;20065966;20071033;20075642;20092861;20195292;20351714;20407490;20415561;20435093;20452754;20453482;20468064;20494452;20504252;20520301;20545463;20345755;20538960;20734064;16754659;19913121;20394819;20562674;20628086;20680028;22926610;20538346;21037584;20948451;20846463;21967853;21614492;22123816;22397586;22764241;22497996;22414959;22593582;22766135;22967772;23345234 3358 K9J958;P28335 ABBA01053581;ABBA01053582;ABBA01053583;ABBA01053584;ABBA01053585;ABBA01053586;ABBA01053587;ABBA01053588;ABBA01053589;ABBA01053590;ABBA01053591;ABBA01053592;ABBA01053593;ABBA01053594;ABBA01053595;ABBA01053596;ABBA01053597;ABBA01053598;ABBA01053599;ABBA01053600;ABBA01053601;ABBA01053602;ABBA01053603;ABBA01053604;ABBA01053605;ABBA01053606;ABBA01053607;ABBA01053608;ABBA01053609;ABBA01053610;ABBA01053611;ABBA01053612;ABBA01053613;ABBA01053614;ABBA01053615;ABBA01053616;ABBA01053617;ABBA01053618;ABBA01053619;AC004822;AC007022;AC007025;AC233299;AF208053;AF498983;AK295753;AK308766;AL355812;AL590097;AL591402;AMYH01022851;BC028688;BC095543;BX648587;CH471120;FJ200493;M81778;NG_012082;NM_000868;NM_001256760;NM_001256761;U49516;X80763 AAA60317;AAB40898;AAC71658;AAF35842;AAH95543;AAM21130;ACO54890;BAG58583;CAB59978;EAX02623;EAX02624;NP_000859;NP_001243689;NP_001243690;P28335 Hs.149037 1654583;1655000;1666825;1691602;1716775;1745383;1781146;1788618;1796034;2115503;2118040;2130086;2135715;2140333;2176907;5016033 AL008895;AL008896;AL008908;AL022533;AL023919;AL032548;BB315810;DXS7598;GDB:603978;HTR2C;HTR2C_347;RH11284;RH121682;RH1706;RH70924;stdJ788M24T7 5-HT2C;5-HTR2C;HTR1C 5-HT-1C;5-HT-2C;5-HT1C;5-hydroxytryptamine receptor 1C;5-hydroxytryptamine receptor 2C;5-hydroxytryptamine receptor-1c;OTTHUMP00000023868;OTTHUMP00000023869;OTTHUMP00000023870;serotonin 5-HT-2C receptor;serotonin receptor 2C 1643316 BW239_H APPROVED protein-coding ENSG00000147246 5295 02429 312861 REVIEWED 731795 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. [provided by RefSeq, Oct 2011] 2 2 q36.3-q37.1 231681199 231698068 - 231972947 231989824 - 1580863;6480464 7926008;8143856;12761501;19156168;19095219;19086053;19023134;18079067;15815621;15608559;15489334;12767050;12477932;11916537;11877320;11859080;11150294;10734074;10722792;8786115;8621713;8078486;7582481;22889411;12970106;15625277;15862800;15925089;16517693;18240029;18703043;19057895;19308295;19455600;19874574;20346360;7599919;8882600;9186750;20564397;16754659;19913121;20628086;21179162;22917605;20846463;21836641;23519215;22493371;23355731;19307114;15123239;23400010;17609583;18566482 3357 AAB31827;P41595 ABBA01002063;AC009407;AF156160;AK313741;AMYH01011555;AY114103;AY136751;BC063123;CH471063;NM_000867;X77307;Z36748 AAB31827;AAD39259;AAH63123;AAM78370;AAN01277;AAX93128;BAG36482;CAA54513;CAA85319;EAW70949;NP_000858;P41595 Hs.421649 1648512;1796032;2117387;2145381 HTR2B_345;RH48937;RH68938;SHGC-12915 5-HT(2B);5-HT2B 5-HT 2B receptor;5-HT-2B;5-hydroxytryptamine 2B receptor;5-hydroxytryptamine receptor 2B;5-hydroxytryptamine receptor 2B variant b;OTTHUMP00000164294;serotonin receptor 2B APPROVED protein-coding ENSG00000135914 5294 03077 601122 VALIDATED 734107 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 13 13 q14-q21 46305514 46368176 - 47405677 47471211 - 1624376;1624367;1624370;1624371;1624393;1624369;1624392;1624374;1624375;1600503;1331525;1624379;1580863;6480464;5135278;7240710 9128844;17062970;16328014;15659047;16183055;16491645;16362404;12392096;11378836;16002744;15118671;17268262;21521772 21977970;22074567;18783799;18775534;18771483;18771015;18762964;18761744;18712714;18707693;18657250;18618671;18611292;18602445;18579595;18573276;18562401;18552399;18516948;18513383;18511303;18502553;18480698;18460771;18454098;18436425;18430065;18420180;18405062;18389501;18379473;18370802;18368410;18366104;18364387;18359159;18349694;18336767;18334271;18314859;18297054;18288096;18270970;18253134;18247315;18241316;18215653;18198266;18197272;18196244;18191318;18182772;18181968;18163387;18086475;18079067;18063936;18006541;17964050;17956758;17944104;17938636;17924589;17922252;17899021;17804117;17728663;17715398;17713649;17697394;17688403;17655760;17625040;7582481;9109547;19647327;19647026;19639876;19590397;19584773;19560507;19556740;19545856;19506906;19494443;19493540;19457377;19455600;19445671;19439249;19435465;19428704;19420105;19387614;19381154;19365399;19361869;19352591;19352218;19339052;19328558;19328219;19221690;19213611;19193342;19192439;19184136;19170664;19162119;19156168;19142110;19111907;19111403;19102423;19095219;19086053;19077664;19077438;19060480;19058789;19037529;19032968;19026982;19000940;18982172;18982004;18977241;18958185;18937842;18937294;18855532;18849890;18832011;18826444;18821565;18802937;18801406;18797395;17617023;17614196;17601350;17590256;17564514;17544547;17525976;17521439;17510953;17506229;17504248;17503984;17487576;17481814;17440930;17420819;17407792;17406648;17401157;17339524;17291660;17280648;17240119;17225991;17221846;17221840;17203304;17622759;12454564;12231269;12202283;12167522;12140776;12109966;12105278;12079891;12063151;12057029;11992560;11989622;11983190;11956670;11920859;11920858;11918989;11916537;11891796;11842624;11814537;11803534;11803452;11771315;11732859;11725820;11702058;11702051;11566166;11526996;11526993;11525423;11490436;11489292;11444684;11431075;11421130;11409694;11317230;11317228;11317227;11311507;11300730;11172633;11150294;11140838;15000807;14988405;14967409;14744462;14744461;14741324;14730199;14699448;14698468;14681967;14668201;14623359;14610521;14566344;14566219;14531760;14514498;14508013;12957335;12927326;12898571;12886034;12877392;12875919;12874600;12830506;12815744;12759158;12714112;12711403;12707936;12695524;12685303;12682061;12650952;12624948;12607287;12606842;12606840;12605580;12585698;12579508;12532038;12522576;12477932;12476319;12475403;17185512;17102980;17098333;17093889;17092965;17056873;17003810;17000047;16967466;16958038;16899354;16876316;16874005;16856120;16806099;16778329;16770336;16767413;16762472;16762419;16741915;16710319;16701945;16699051;16642436;16640790;16633140;16580628;16545942;16537434;16464220;16449821;16443280;16434999;16397402;16382194;16362639;16314884;16302021;16281377;16272956;16258205;16231475;16215954;16187138;16179957;16127283;16087994;15999344;15965969;15950062;15915764;15893580;15891581;15857569;15826503;15722960;15722953;15722190;15717291;15581469;15564892;15562295;15550673;15533210;15489334;15483560;15476175;15469201;15383158;15364038;15341275;15313842;15309313;15285608;15274035;15245785;15241435;15232358;15211639;15211529;15190056;15167698;15140279;15083167;15057823;15052272;15048655;15048642;15037867;15005715;21384582;11121203;11121202;11121191;11121184;10581480;10391209;9635956;9169451;9153397;9130948;8655141;8622505;8035173;2300586;2032718;1980030;1722404;1330647;1323014;20510480;22397586;22561477;22664549;21320838;20338635;19913121;20565774;20580209;20589614;20594303;20602615;20623453;20628086;20673868;20677439;20807249;20817074;18577758;20451351;15831837;15862800;16344560;16517693;18240029;18583979;18703043;19057895;19321655;19353636;19389456;19474802;19559762;19566713;19636338;19672240;19693267;19712556;19727210;19742166;19758204;19758789;19763327;19764480;19820407;19829168;19842167;19844076;19855357;19863848;19874574;19897250;19910872;19913072;19924111;19936617;19937159;19956635;19959344;19997080;20006992;20010450;20022223;20025927;20039947;20043006;20047709;20071033;20075642;20125193;20177409;20179740;20198576;20203198;20211215;20218802;20351714;20379614;20396435;20403506;20407490;20421848;20431430;20436453;20452482;20452754;20453658;20464528;20468064;20471101;20478362;20515362;20521326;20545463;19690620;16754659;20385906;20734064;20736957;20827275;20862259;20888323;20930387;20937529;21035274;21041608;21049304;21055833;21089166;20538960;20628446;20660194;20941551;21267461;20538346;20683774;21348951;20873971;21125150;21305503;22564712;21646575;21325954;21598376;21136126;23129762;23301505;22522758;21457069;21550210;23241418;23503679;21649857;21464131;21838737;21917318;21098981;21621273;21739010;21214634;21930285;22124593;21900033;22036916;22095614;22558144;22681516;21849982;21874579;22589738;23250597;21803171;22281949;23159831;23431136;23311440;23317793;23045337;22740152;22176604;22661198;23274704 3356 P28223 A23337;AA418604;AB037513;ABBA01050995;AF498982;AK302787;AK314132;AL136958;AL160397;AMYH01005097;BC069356;BC069576;BC074848;BC074849;BC096839;BX647777;CH471075;DA233936;DA247468;DC321645;DN990785;M86841;NG_013011;NM_000621;NM_001165947;S42168;S50130;S71229;X57830 AAA58354;AAB22791;AAB24166;AAB31320;AAH69356;AAH69576;AAH74848;AAH74849;AAH96839;AAM21129;BAA90433;BAG36822;BAG63991;CAA01675;CAA40963;EAX08770;NP_000612;NP_001159419;P28223 Hs.72630 1738415;1761899;1782924;1794332;1794338;1856181;2114082;2139978;2157544;2163540;2167442;2217458 D13S1180;D13S672E;HTR2A;HTR2A_1901;PMC311033P4;PMC311033P7;RH48562;RH69922;SGC31576;SHGC-145834;SHGC-155210;WI-15917 5-HT2A;HTR2 5-HT-2;5-HT-2A;5-HT2 receptor;5-hydroxytryptamine receptor 2A;OTTHUMP00000018378;serotonin 5-HT-2A receptor;serotonin receptor 2A 1643282;1643520;2289411 BW193_H;BW199_H;BW259_H APPROVED protein-coding 5293 01638 103780;164230;181500;182135;606788;608516 REVIEWED 731037 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 q23.1 113351120 113366245 + 113845797 113861035 + 6480659;6480464;6480658 21420406;22014438 18079067;15102340;7565620;19457066;19455600;19185213;19184136;19156168;19095219;19086053;19081678;19032968;19008750;18982004;18681779;18622264;18614545;18593952;18359159;18331431;18330705;18292429;18197086;18184810;18063656;17697394;17509016;17496724;17401153;17260949;17259209;17200121;17192651;17052218;17010535;16931691;16874005;16825485;16595668;16534507;16487942;16407231;16314763;16000636;15887114;15809299;15489334;15452106;15293096;15131114;15115912;14626451;14557147;12867984;12791692;12750374;12661769;12549905;12477932;12457738;12363396;12359150;12059035;11505217;11495540;11207027;10670426;9950429;9928262;8848005;8530095;8112471;15028279;21969281;20516728;19713259;19741568;19874574;19904001;19933756;20021265;20075642;20168265;20356718;20468064;20538960;20838391;19794330;19913121;20522555;20602613;20602615;20628086;20694966;20728877;21184810;21454663;22818390;21338684;22328445;22832903 3359 B4E398;P46098;Q9UEP2 ABBA01039775;AF498984;AJ003078;AJ003079;AJ003080;AJ005205;AK299973;AK304630;AK313896;AMYH01004040;AP000908;BC002354;BC004453;BT007204;CD014118;CH471065;D49394;NG_013058;NM_000869;NM_001161772;NM_213621;NR_046363;S82612;U73443 AAB37533;AAB71736;AAH02354;AAH04453;AAM21131;AAP35868;AAP36958;ABM82929;ABM86119;BAA08387;BAG36619;BAG61798;BAG65410;CAA05851;CAA05852;CAA05853;CAA05854;CAA06442;EAW67237;EAW67238;EAW67239;EAW67240;NP_000860;NP_001155244;NP_998786;P46098 Hs.413899 1339602;1668490;1852560;2119277;2146901 5HT3R;D11S1786;RH36483;SHGC-31530;STS-D49394 5-HT-3;5-HT3A;5-HT3R;5HT3R;HTR3 5-HT3-A;5-hydroxytryptamine receptor 3;5-hydroxytryptamine receptor 3A;5HT3 serotonin receptor;OTTHUMP00000218317;OTTHUMP00000218318;OTTHUMP00000218319;OTTHUMP00000218320;serotonin receptor 3A;serotonin-gated ion channel receptor APPROVED protein-coding ENSG00000166736 5297 08917 182139 REVIEWED 1353896 HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008] 3 3 3 q27.1 182213538 182221192 + 185253529 185261155 + 183770835 183778461 + 1580863 18681779;18389280;15157181;14597179;12801637;19794330;12477932;19035560;20021265;20356718;20538960;21192076;22318606;22472876 170572 Q8WXA8 ABBA01058463;AC131235;AF459285;AMYH01013710;BC131799;CH471052;NG_012749;NM_130770 AAI31800;AAL66182;EAW78305;NP_570126;Q8WXA8 Hs.632579 5-HT3-C;5-HT3C;5-hydroxytryptamine (serotonin) receptor 3, family member C;5-hydroxytryptamine receptor 3 subunit C;5-hydroxytryptamine receptor 3C;OTTHUMP00000210834;serotonin receptor 3C APPROVED protein-coding ENSG00000178084 24003 17120 610121 REVIEWED 69153 HTR5BP 5-hydroxytryptamine (serotonin) receptor 5B, pseudogene 2 2 2 q14.1 111944217 111988501 + 118333473 118377726 + 118617003 118661256 + 11343685 645694 AB065453;ABBA01045946;ABBA01045947;AC009404;AJ308679;AJ308680;AMYH01010984;AMYH01010985;NG_008325 1802742;1806364;1806716;1807382;1809500;1812042;1814710;1815252;1817098;1818100;1827338;1828620;1828810;1833602;1835954;1837260;1843840;1878150;1878152;1878154;1878156;1878158;1878160;1878162;1878164;1878166;1878168;1878170;1878172;1878174;1878176;1878178;1878180;1878182;1878184;1878186;1878188;1878190;1878192;1878194;1878196;1878198;1878200;1878202;1878204;1878206;1878208;1878210;1878212;1878214;1878216;1878218;1878220;1878222;1878224;1878226;1878228;1878230;1878232;1878234;1878236;1878238;1878240;1878242;1878244;1878246;1878248;1878250;1878252;1878254;1878256;1878258;1878260;1878262;1878264;1878266;1878268;1878270;1878272;1878274;1878276;1878278;1878280;1878282;1878284;1878286;1878288;1878290;1878292;1878294;1878296;1878298;1878300;1878302;1878304;1878306;1878308;1878310;1878312;1878314;1878316;1878318;1878320;1878322;1878324;1878326;1878328;1878330;1878332;1878334;1878336;1878338;1878340;1878342;1878344;1878346;1878348;1878350;1878352;1878354;1878356;1878358;1878360;1878362;1878364;1878366;1878368;1878370;1878372;1878374;1878376;1878378;1878380;1878382;1878384;1878386;1878388;1878390;1878392;1878394;1878396;1878398;1878400;1878402;1878404;1878406;1878408;1878410;1878412;1878414;1878416;1878418;1878420;1878422;1878424;1878426;1878428;1878430;1878432;1878434;1878436;1878438;1878440;1878442;1878444;1878446;1878448;1878450;1878452;1878454;1878456;1878458;1878460;1878462;1878464;1878466;1878468;1878470;1878472;1878474;1878476;1878478;1878480;1878482;1878484;1878486;2199678;2199680;2199682;2199684;2199686;2199688;2199690;2199692;2199694;2199696;2199698;2199700;2199702 ECD02258;ECD04137;ECD04315;ECD04662;ECD05742;ECD07026;ECD08386;ECD08661;ECD09598;ECD10106;ECD14784;ECD15437;ECD15532;ECD17945;ECD19138;ECD19797;ECD23131;REN9762;REN9763;REN9764;REN9765;REN9766;REN9767;REN9768;REN9769;REN9770;REN9771;REN9772;REN9773;REN9774;REN9775;REN9776;REN9777;REN9778;REN9779;REN9780;REN9781;REN9782;REN9783;REN9784;REN9785;REN9786;REN9787;REN9788;REN9789;REN9790;REN9791;REN9792;REN9793;REN9794;REN9795;REN9796;REN9797;REN9798;REN9799;REN9800;REN9801;REN9802;REN9803;REN9804;REN9805;REN9806;REN9807;REN9808;REN9809;REN9810;REN9811;REN9812;REN9813;REN9814;REN9815;REN9816;REN9817;REN9818;REN9819;REN9820;REN9821;REN9822;REN9823;REN9824;REN9825;REN9826;REN9827;REN9828;REN9829;REN9830;REN9831;REN9832;REN9833;REN9834;REN9835;REN9836;REN9837;REN9838;REN9839;REN9840;REN9841;REN9842;REN9843;REN9844;REN9845;REN9846;REN9847;REN9848;REN9849;REN9850;REN9851;REN9852;REN9853;REN9854;REN9855;REN9856;REN9857;REN9858;REN9859;REN9860;REN9861;REN9862;REN9863;REN9864;REN9865;REN9866;REN9867;REN9868;REN9869;REN9870;REN9871;REN9872;REN9873;REN9874;REN9875;REN9876;REN9877;REN9878;REN9879;REN9880;REN9881;REN9882;REN9883;REN9884;REN9885;REN9886;REN9887;REN9888;REN9889;REN9890;REN9891;REN9892;REN9893;REN9894;REN9895;REN9896;REN9897;REN9898;REN9899;REN9900;REN9901;REN9902;REN9903;REN9904;REN9905;REN9906;REN9907;REN9908;REN9909;REN9910;REN9911;REN9912;REN9913;REN9914;REN9915;REN9916;REN9917;REN9918;REN9919;REN9920;REN9921;REN9922;REN9923;REN9924;REN9925;REN9926;REN9927;REN9928;REN9929;REN9930;stSG618904;stSG618905;stSG618906;stSG618907;stSG618908;stSG618909;stSG618910;stSG618911;stSG618912;stSG618913;stSG618914;stSG618915;stSG618916 5-HT5B;GPR134;HTR5B APPROVED pseudo 16291 INFERRED 6481104 HTR4-IT1 HTR4 intronic transcript 1 (non-protein coding) 100874271 AC008627 zmm2 miscrna 41345 1344328 HTR3D 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 3 3 3 q27.1 182192147 182199840 + 185232026 185239851 + 183749332 183757157 + 14597179;12801637;12477932;20021265;20356718;20538960;19794330;19913121;20602613;20628086;21192076;22472876 200909 F6WC43;Q70Z44 ABBA01058465;AC068644;AC131235;AJ437318;AMYH01013710;AY159812;BC101090;BC101091;BK001746;NG_012750;NM_001145143;NM_001163646;NM_182537 AAI01091;AAI01092;AAO38166;CAD24817;NP_001138615;NP_001157118;NP_872343;Q70Z44 Hs.448004 5HT3D;MGC119636;MGC119637 5-HT3-D;5-HT3D;5-hydroxytryptamine (serotonin) receptor 3 family member D;5-hydroxytryptamine receptor 3 subunit D;5-hydroxytryptamine receptor 3D;OTTHUMP00000210831;OTTHUMP00000210832;OTTHUMP00000210833;OTTHUMP00000225094;serotonin 5-HT-3D receptor;serotonin receptor 3D APPROVED protein-coding ENSG00000186090 24004 17121 610122 REVIEWED 1604760 HTR7P1 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 12 12 12 p13.1 18302245 18306627 + 13043041 13047556 + 13153376 13157764 + 9473718 93164 ABBA01067857;AC007688;AK125093;AMYH01004292;NR_002774;U86813 Hs.593282;Hs.722632 2172779 G31534 HTR7P APPROVED pseudo ENSG00000183935 30411 VALIDATED 1347568 HTR3E 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012] 3 3 3 q27.1 182260576 182267055 + 185300661 185307477 + 183814852 183824783 + 12477932;18614545;18573276;15157181;14597179;12801637;19794330;20602613;20538960;20522555;20021265;20356718;21192076;22472876 285242 A5X5Y0;C9J420 ABBA01058462;AC131235;AMYH01013710;AY159813;AY349352;AY349353;BC101182;BC101183;BC101184;BC101185;CH471052;DQ644022;EU165354;NG_012452;NM_001256613;NM_001256614;NM_182589;NM_198313;NM_198314 A5X5Y0;AAI01183;AAI01184;AAI01186;AAO38167;AAQ93476;AAQ93477;ABG35128;ABW05298;EAW78304;NP_001243542;NP_001243543;NP_872395;NP_938055;NP_938056 Hs.449179 5-HT3-E;5-HT3E;5-HT3c1;MGC120035;MGC120036;MGC120037 5-HT3 receptor subunit E splice variant HTR3Ea;5-HT3-E;5-HT3E;5-hydroxytryptamine (serotonin) receptor 3, family member E;5-hydroxytryptamine receptor 3 subunit E;5-hydroxytryptamine receptor 3E;OTTHUMP00000210825;OTTHUMP00000210826;OTTHUMP00000210827;OTTHUMP00000210828;OTTHUMP00000210830;serotonin receptor 3E APPROVED protein-coding ENSG00000186038 24005 17122 610123 REVIEWED 7248157 HTR5A-AS1 HTR5A antisense RNA 1 12477932 100128264 AACC02000116;ABBA01015991;AC093726;AK303289;AMYH01018179;BC031272;BC045795;CH236962;DC407680;NR_038945 BAH13932 Hs.248137;Hs.744621 miscrna ENSG00000220575 48956 VALIDATED 736061 HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010] 5 5 q31-q33 147810788 148013934 - 147830595 148033739 - 6480464 16102731;9603189;9276448;19455600;19352218;19328558;19156168;19086053;19081678;19053287;19002436;18846035;18359159;18322379;18270970;18079067;17603679;17572776;17509016;17418812;17379184;17377064;16563621;16322401;16209130;15950987;15925089;15919661;12399948;11989623;11750916;11716477;11406291;11218067;10683202;10646498;10220570;9724925;9371406;9351641;9349523;7656980;15896782;15825078;15710402;15575821;15489334;15118808;12898568;12855812;12519861;12477932;12446729;22837378;18240029;19892407;20010834;20010835;12036966;18577758;20538346;21364600;21382128;21673407;21965014;22145929;22226658;22493371;22842674;22903372;22699663;23284291;22505724;22584237;22709820 3360 C4WYH4;E5RHV8;E5RK45;Q9UBM6 ABBA01026315;ABBA01026316;ABBA01026317;AC008627;AC011390;AC091971;AC114939;AJ011371;AJ131724;AJ131725;AJ131726;AJ243213;AJ278979;AJ278980;AJ278981;AJ278982;AJ519673;AJ633645;AK308471;AM712912;AMYH01015699;BC074755;BC095497;CH471062;DR000612;NG_029052;NM_000870;NM_001040169;NM_001040172;NM_001040173;NM_199453;Y08756;Y09586;Y10437;Y12505;Y12506;Y12507;Y13584;Z48150 AAH74755;AAH95497;CAA09600;CAA70002;CAA70774;CAA71462;CAA73107;CAA73108;CAA73109;CAA73911;CAA88167;CAB71316;CAC20411;CAC22248;CAC22249;CAC22250;CAC22251;CAC79533;CAC79538;CAD58392;CAG17627;CAN84676;EAW61799;EAW61800;EAW61801;EAW61802;EAW61803;EAW61804;NP_000861;NP_001035259;NP_001035262;NP_001035263;NP_955525;Q13639 Hs.483773 1715429;2126701;2171937;2183398;5094943 D5S1425;D5S1748;HTR4;RH120547;UniSTS:495967 5-HT4;5-HT4R 5-HT-4;5-hydroxytryptamine receptor 4;5-hydroxytryptamine4 receptor;OTTHUMP00000160384;OTTHUMP00000224250;OTTHUMP00000224252;OTTHUMP00000224254;OTTHUMP00000224281;OTTHUMP00000224282;OTTHUMP00000224307;OTTHUMP00000235919;cardiac 5-HT4 receptor APPROVED protein-coding ENSG00000164270 5299 602164 REVIEWED 735325 HTR5A 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008] 7 7 q36.1 154493479 154508392 + 154862034 154879102 + 1580863;6480464 7988681;19455600;19381154;19328558;19086053;18802937;18253134;18079067;17881091;17203304;16701945;16516972;15921820;15581469;15489334;14702039;12930153;12853948;12690205;12627464;12558985;12477932;11916537;11343685;11317225;11287788;10779389;9847074;8978771;19156168;18240029;20388841;20468064;18577758;20734064;2834384 3361 A4D2N2;P47898 AACC02000116;ABBA01015991;AC092628;AC093726;AF498985;AK094255;AMYH01018179;BC112021;BC113468;BX538209;CH236962;CH471149;NM_024012;X81411;X81412 AAI12022;AAI13469;AAM21132;AAP21864;AAS07542;ADR82961;BAG52850;CAA57168;EAL23726;EAX04526;NP_076917;P47898 Hs.65791;Hs.744621 1648555;1735668;1762637;1786274 D7S2131E;HTR5A;SHGC-145737;SHGC-146443 5-HT5A;MGC138226 5-HT-5;5-HT-5A;5-hydroxytryptamine receptor 5A;OTTHUMP00000199844;serotonin receptor 5A APPROVED protein-coding 5300 03198 601305 REVIEWED 733226 HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 1 1 p36-p35 19864367 19878642 + 19991780 20006055 + 729295;1580863;1358662;6480464 8522988;10624811 17189269;19455600;19193342;19156168;19095219;19086053;18855532;18253134;18197272;18079067;16770336;16701945;16682118;16640790;16633140;16094384;15896229;15823158;15737640;15531082;15489334;15482912;15048641;14741325;14698468;12650852;12627464;12618306;12579508;12477932;12057822;12023056;11916537;11889255;11888546;11725820;11524147;11287786;11163544;11140838;7656980;18240029;18583979;19590397;19636338;19782122;19936617;19997080;20093369;20170099;20394784;20464528;20468064;12036966;18577758;20602615;20705401;20737521;21273698;23027611;21329782;22833193;21728060;22278721;22745941 3362 P50406;Q59GI0 AB209129;ABBA01059767;AL031727;AMYH01000317;AY429105;BC074995;BC074996;CH471134;L41147;NM_000871;Z49119 AAA92622;AAH74995;AAH74996;AAR07900;BAD92366;CAA88929;EAW94896;NP_000862;P50406 Hs.22180 1735970;2136856;5015404;5016478;5016596;5022651;5024756 D11S2921;D1S1958E;GDB:434012;GDB:631802;L17705;RH80030;SHGC-74305 5-HT6;5-HT6R 5-HT-6;5-hydroxytryptamine receptor 6;OTTHUMP00000002795;serotonin receptor 6 APPROVED protein-coding ENSG00000158748 5301 03066 601109 PROVISIONAL 1346949 HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008] 10 10 q21-q24 92490555 92607651 - 92500575 92617671 - 1580863;6482181;6482182;6480665;6480666;6482184;6480686;6480667;6482178;6482186;6480673;6480464;6482179;6482188;6482189;6482190 21046636;20236348;21693130;21558435;18570192;15050708;20969855;22465320;18332680;18167178;21843960;17267119;16828124;17485199 22245496;8226867;8398139;19455600;19439818;19233240;19156168;19086053;18855532;18243350;18079067;17936759;17428232;17406648;17321075;16935469;16870886;16192982;15896881;15581469;15489334;15086532;14741325;12767050;12477932;12446729;11916537;11906971;11888546;11163544;10490701;9298538;9154233;9084407;7656980;7601444;22543085;21184583;16385451;18240029;20468064;12036966;18577758;20602615;20827463;21424680;23355731 3363 P34969;Q5VX04 AB451482;ABBA01021931;AK292606;AL360011;AMYH01002937;AY493988;BC047526;BG108256;CH471066;L21195;NG_029218;NM_000872;NM_019859;NM_019860;U68487;U68488;U68492 AAB48393;AAB48394;AAB48397;AAC37538;AAF07217;AAF07218;AAH47526;AAR87480;BAF85295;BAG70296;EAW50118;EAW50119;EAW50120;NP_000863;NP_062873;NP_062874;P34969 Hs.73739 1340723;1760239;1796036;2138623;5018011;7185039 D10S564;HTR7;HTR7_1275;RH66814;SHGC-132538 5-HT7 5-HT-7;5-HT-X;5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled);5-hydroxytryptamine receptor 7;OTTHUMP00000020077;OTTHUMP00000020078;OTTHUMP00000020079;OTTHUMP00000020080;serotonin 5-HT-7 receptor;serotonin receptor 7 APPROVED protein-coding ENSG00000148680 5302 01639 182137 REVIEWED 1346871 HTX2 heterotaxy 2 (autosomal dominant) 7240710 7747776 3348 5306 217095;605376;613853 1318943 HTRA2 HtrA serine peptidase 2 This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008] 2 2 p12 74610040 74614191 + 74756532 74760683 + 1580863;2314385;5688714;5688746;5688747;5688381;5688367;5688393;5688392;5688376;5688749;5688723;5688370;5688395;5688722;5688748;5688394;5688372;6480464;6907045;7240710 16978742;21338583;18241672;19424634;15961413;15509788;18401856;14534547;15611365;17207090;18662332;21132459;21701785;21163861;12887511;18364387;15306124 10873535;10644717;10971580;10995577;15044455;19224617;19076428;18979398;18800009;18790661;18769594;18606591;18362145;18259191;18060880;17922292;17718385;17684015;17311912;17266347;17130845;16968707;16713569;16413409;15815621;15489334;15328349;15294909;15236609;15201285;15200957;15036614;14645012;14605674;12835328;12815069;12477932;11967569;11803371;11801603;11606597;15507451;16007220;20614026;11604410;11583623;8125298;12865429;15300255;22246992;20202124;17297443;19355862;19502560;19570340;19656851;19680265;19763263;20012177;20036034;20122399;22641346;23479728;20651226;20125124;20562859;11602612;20469960;20877624;19631192;20972909;21198825;22939629;23581228;22976834;23159167;20938363;21732781;22391154;21486948;15781261;18309324;21908615;22001920;23000965;20639865;21139048;21890473;21906983;23682386;21701498;22503729;22265821;20301402;21883444;22923201;22490291;17906618;22505724 27429 O43464 ABBA01075602;AC005041;AF020760;AF141305;AF141306;AF141307;AF184911;AK225932;AK291977;AK310163;AMYH01010454;BC000096;BF939362;CH471053;NG_012163;NG_033037;NM_013247;NM_145074 AAB94569;AAF66596;AAF66597;AAF66598;AAG13126;AAH00096;ABM82748;ABM85935;ABW03759;BAF84666;EAW99617;EAW99618;EAW99619;EAW99620;EAW99621;NP_037379;NP_659540;O43464 Hs.469045;Hs.744841 1650052;1672990;1734814;1739293;1847028;2107273;2189429 A006U29;BCD2341;D2S1577E;D2S1958E;LOXL3__6411;MARC_5801-5802:991939731:1;RH15974 OMI;PARK13;PRSS25 HtrA-like serine protease;OTTHUMP00000160415;OTTHUMP00000160416;OTTHUMP00000202723;Omi stress-regulated endoprotease;high temperature requirement protein A2;protease, serine, 25;serine protease 25;serine protease HTRA2, mitochondrial;serine proteinase OMI APPROVED protein-coding ENSG00000115317 14348 05919 606441;610297 REVIEWED 2293810 HULC hepatocellular carcinoma up-regulated long non-coding RNA 6 6 6 p24.3 9881779 9883416 + 8597441 8599078 + 8652442 8654079 + 17241883;22493738;22685290;23728852 728655 ABBA01022059;AL133261;AL161437;AMYH01016067;AY914050;NR_004855 Hs.214343 HCCAT1;LINC00078;NCRNA00078 APPROVED miscrna ENSG00000251164 34232 612210 PROVISIONAL 1354015 HTRA3 HtrA serine peptidase 3 4 4 p16.1 8322392 8359734 + 8271489 8308838 + 1580863;6480464 19424634;18241672;17962403;16650464;16251496;15489334;14500695;12513693;12477932;19359045;19951697;20068077;20154083;20379614;20469960;21035848;21047919;21321049;21555518;22318606;23049902;22923201;18387192 94031 P83110 ABBA01008692;ABBA01008693;ABBA01008694;ABBA01008695;AC113611;AL547377;AMYH01013928;AY040094;AY280665;AY280666;BC034390;BC035717;CH471131;NM_053044 AAH34390;AAH35717;AAK71475;AAP42282;AAP42283;ABM82114;ABM85297;EAW82345;EAW82346;NP_444272;P83110 Hs.479119 1645675;1677018;1773467 A007I17;RH80395;WI-12525 Prsp;Tasp OTTHUMP00000036079;OTTHUMP00000217403;high-temperature requirement factor A3;pregnancy-related serine protease;probable serine protease HTRA3;serine protease HTRA3 protein-coding ENSG00000170801 30406 08821 608785 VALIDATED 732659 HTRA1 HtrA serine peptidase 1 This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008] 10 10 q26.3 124211047 124264413 + 124221041 124274424 + 1580863;6480464;7240710 21320870;9852107;19491722;19424634;19387015;19375943;19301262;19259132;19255159;19202148;19187590;19169232;19065273;19056122;19026638;19001225;18939352;18806297;18718667;18682812;18682806;18681782;18515590;18511946;18452160;18436811;18427598;18362109;18316707;18301036;18241672;18207215;18206206;18164066;18162041;18161619;18156628;18079691;17962403;17904186;17884985;17718385;17692272;17679948;17568988;17438519;17426452;17292962;17094466;17072861;17053109;17053108;16767218;16650464;16377621;16344560;15917099;15855271;15231748;14973287;14716297;14702039;14500695;12513693;12477932;12242667;9344681;9110174;8977104;8619474;22694956;22578544;22893068;19913121;20576771;20606025;20628086;20664794;20678803;21402993;15101818;16385451;19117936;19470753;19636338;19657146;19680273;19688690;19783326;19796758;19798546;19845562;19933195;19948975;20132989;20140183;20157352;20238042;20346514;20378180;20379614;20381870;20388781;20445115;20456446;20533271;20538655;21115960;20469960;20688737;20881291;20888482;21031019;21060055;21067572;20943460;20385819;20385826;20861866;20940247;21122828;21191724;21203342;20671064;21297635;22900900;21163940;22487577;23060141;23209669;21665990;21882634;21844367;20437615;21959923;22155582;22865667;22582805;21282580;21622153;21899153;22491416;22705344;21817962;23083999;21558292;22049084;23337555;21387310;21708937;22259222;22535953;22556410;23079781;21988832;23056244;23326517;22923201;22935172;23478260;22761798;23455636 5654 H0Y7G9;Q92743 ABBA01062844;ABBA01062845;AF070555;AF097709;AF157623;AI423369;AK091944;AK092476;AK290089;AMYH01003135;BC011352;BC031082;BM993893;BX842242;CH471066;D87258;DA633502;NG_011554;NM_002775;Y07921 AAC97211;AAD41525;AAH11352;AAI56553;AAI72536;BAA13322;BAF82778;BAG52446;BAG52557;CAA69226;EAW49312;EAW49313;NP_002766;Q92743 Hs.501280 2154455;2156541;2164366;2164368;2217854;5111146 A005Z02;G06946;G20611;IB2169;PRSS11_3850;RH69852 ARMD7;CARASIL;HtrA;L56;ORF480;PRSS11 IGFBP5-protease;OTTHUMP00000020664;OTTHUMP00000063514;high-temperature requirement A serine peptidase 1;protease, serine, 11;protease, serine, 11 (IGF binding);serine protease HTRA1 APPROVED protein-coding ENSG00000166033 9476 03725 600142;602194;610149 REVIEWED 1344314 HUNK hormonally up-regulated Neu-associated kinase 21 21 21 q22.1 18427991 18558682 + 32167499 32298248 + 33245628 33376377 + 1580863;6480464 10662544;17203973;15575376;11129044;10830953;22889411;21393859;21490949;21107309;19717424;19890347;20133759;20379614;20467438;21706016;23382691 30811 H7C2X2;H7C3H0;P57058 ABBA01057305;ABBA01057306;ABBA01057307;ABBA01057308;AF086072;AJ271722;AMYH01012198;AP000256;AP000257;AP000258;AP000259;AP000260;CH471079;NM_014586 AAI56533;AAI72525;CAB71146;EAX09883;NP_055401;P57058 Hs.109437 1342300;1680944;1730638;1732259;1752603;1778800;2137982;2155432;2169048;2180919;2219152;5016596;5022200;7183187 D21S1966;D21S261;D21S312;D21S63;D55705;GDB:631802;HUNK__6615;L18426;SHGC-106436;SHGC-14065;SHGC-51915;SHGC-6824;SHGC-87581 B19;OTTHUMP00000107427;hormonally up-regulated neu tumor-associated kinase;hormonally upregulated Neu-associated kinase;hormonally upregulated neu tumor-associated kinase;serine/threonine protein kinase MAK-V;serine/threonine-protein kinase MAK-V protein-coding ENSG00000142149 13326 09410 606532 VALIDATED 1351495 HV1S herpes simplex virus type 1 sensitivity 1034214 3365 5310 1353766 HVBS4 hepatitis B virus integration site 4 3016335 3367 5312 1345845 HVBS6 hepatitis B virus integration site 6 2847975 3368 5313 1350689 HTRA4 HtrA serine peptidase 4 This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008] 8 8 8 p11.22 37783269 37797679 + 38950854 38964801 + 38831668 38846181 + 6480464 16303743;15489334;14702039;12477932;12408815;18387192;22964307;22778138 203100 P83105 ABBA01015933;ABBA01015934;AC108863;AK075205;AK300197;AMYH01018657;AY188774;BC057765;CH471080;CQ783299;DC423042;NM_153692 AAH57765;BAC11470;BAG61969;CAF86511;EAW63290;NP_710159;P83105 Hs.661014 1776781;1777524 RH36052;STS-H42485 FLJ90724 OTTHUMP00000225766;high-temperature requirement factor A4;probable serine protease HTRA4;serine protease HTRA4 APPROVED protein-coding ENSG00000169495 26909 08818 610700 REVIEWED 1349150 HVBS7 hepatitis B virus integration site 7 3369 5314 1352470 HVBS8 hepatitis B virus integration site 8 p12-p11.2 2845134 3370 AC005375 protein-coding 5315 5508855 HTT-AS1 HTT antisense RNA 1 (head to head) 4 p16.3 3064973 3076241 - 16344560;21672921 100750326 ABBA01029477;AL390059;AL390065;AMYH01013886;DA153759;NR_045414 Hs.575112 HTTAS APPROVED miscrna 37118 VALIDATED 68472 HTT huntingtin Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008] 4 4 p16.3 3046206 3215485 + 3076408 3245687 + 1358375;1304431;1302537;1580863;1302572;1300048;6480464;6902915;6907045;7240710 15337316;12957494;8898202;7774020;22731249 7568002;7477378;10823891;9778247;10353249;15837803;19667213;19525941;15716522;15689617;15654337;15610167;15496672;15468075;15359012;15351733;15340079;15338298;15316797;15312898;15273431;15261377;15240759;15163634;15140196;15140195;15032971;14985437;14978262;14743370;14714490;15717026;14657499;14617779;14572927;14570907;14570710;14527999;12956863;12952868;12873381;12824708;12810713;12807877;12799135;12784292;12783847;12682342;12657678;12604778;12569151;12555240;12548366;12477932;12466534;12427879;12393793;12393306;12354780;12354289;12204002;12191472;12135980;12062094;11988536;11973620;11971872;11939977;11906693;11870213;11854752;11839795;11807410;11792860;11788820;11745989;11739372;11738012;11642542;11595021;11487199;11461154;11442349;11432963;11379408;11264541;11172033;11149616;11137014;19498170;19492089;19386911;19361448;19289118;19270701;19270310;19268537;19266143;19250382;19249009;19240033;19204007;19196932;19133136;19130884;19115052;19059613;19039036;19027857;19026253;19018245;18992820;18981372;18922795;18831068;18772195;18718937;18651325;18649400;18640989;18632688;18586675;18558632;18504298;18445618;18400894;18380890;18337408;18267960;18255062;18157708;18091069;18078716;18068007;18065495;18063376;18029446;18006506;17989880;17975550;17952586;17948889;17947297;17941857;17902043;17708681;17687393;17660463;17611284;17610899;17548833;17519223;17500595;17433700;17409200;17403029;17361007;17299753;17276991;17240517;17208201;17201528;17189290;17161366;17151278;17141218;17135277;17126554;17124493;17115386;17098699;17012230;16973623;16968735;16835690;16782707;16777606;16729030;16606912;16595690;16522639;16473015;16452635;16417581;16391387;16365166;16324236;16286508;16278683;16204350;16192271;16183657;16162412;16115812;16115810;16085648;16006135;15994095;15951191;15916486;15911879;15890517;15843398;15832309;15815621;15809304;11121205;11105061;11092755;11063258;11035034;11013077;11008591;10974549;10958656;10801775;10770929;10441327;10434301;10410676;10332029;9809064;9700202;9668110;9599014;9535906;9454836;9147654;9079622;8702625;8696339;8612237;8458085;8197474;7951324;7903579;7759106;7647777;1302016;12456676;12881483;15383276;15996546;15936278;15603740;11468270;14713958;11319238;15064418;15225551;22234237;22735540;21482444;22556411;22580459;21519949;22162197;22359536;22433867;21209075;21310951;20531388;21169558;20097678;20204693;20710011;21322024;12379151;12881722;16169070;18166084;19451134;19488402;19566678;19628478;19661690;19710014;19726651;19748341;19752198;19776381;19915590;19916101;19933700;19969308;20016493;20016831;20018729;20026071;20056037;20064390;20145253;20154145;20232225;20360314;20379614;9466992;20126661;20800603;18029348;20864123;20444706;11607033;21087194;20494921;20858895;20864533;16456924;17704510;18669659;7748555;20140226;21044956;20301482;20417604;22815947;21177255;21364626;21147489;21192926;19656852;21248742;21280221;21315254;21320997;21245084;21257639;21336284;22891683;22906125;20026656;21540131;20708032;21983719;21509658;21515588;21518730;21889981;21501628;21889504;21685499;21887328;22219281;21896647;22011578;20875859;21454471;21985783;19240112;21566141;22100810;21968397;23115180;16492755;17603015;21875723;22048026;15371500;22337954;22409360;22511757;21139048;21890473;21971427;21984825;22110140;22119730;22123826;22178474;22178478;22179316;22306231;21458571;21465263;21954231;21997870;22072510;22101303;22103299;22235343;22352297;22375012;22445760;22536159;23319588;22306738;16091361;22573320;22623107;22863883;23160193;23575829;22399227;22642889;23305455;23000965;23071649;23275563;22422149;22984513;23300147;23624566;12417652;18986984;22505724;22801429;23443539;23012356;22917585;22974559;23383273 3064 H0YA07;P42858 AB016794;AB209506;ABBA01029474;ABBA01029475;ABBA01029476;ABBA01029477;AK025918;AK290544;AL390059;AMYH01013886;AMYH01013887;BC014028;CH471131;L12392;L20431;L27416;L34020;NG_009378;NM_002111;Y07983;Z49154;Z49155;Z49769;Z69837 AAA52702;AAB38240;AAI72756;BAA36753;BAD92743;BAF83233;CAA89024;CAA89025;CAA89839;EAW82474;EAW82475;EAW82476;EAW82477;EAW82478;NP_002102;P42858 Hs.518450 1679327;1693836;1742605;1743417;1743639;1768920;1792888;1792890;1793302;1850003;1857536;2109383;2126399;2130632;2134327;2135368;2138558;2143070;2145063;2161905;2186085;5120297;5120636;5120720 D4S1337;D4S2663;D4S281;D4S3290;G33683;G42605;GDB:197987;GDB:249651;GDB:316174;GDB:363582;GDB:363587;GDB:372940;HD__6704;PMC166399P1;PMC166399P2;PMC20760P1;RH66772;SHGC-30823;SHGC-50176;SHGC-51023;SHGC-59533;SHGC-67369;SHGC-67859;WI-20376 HD;IT15 OTTHUMP00000217025;huntingtin;huntington disease gene homolog;huntington disease protein APPROVED protein-coding ENSG00000197386 4851 00883 143100;164230;607834;613004 REVIEWED 1346290 HUS1B HUS1 checkpoint homolog b (S. pombe) The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008] 6 6 6 p25.3 1883309 1884334 - 600939 601964 - 655939 656964 - 6480464 15489334;14611806;14574404;14500360;12477932;11944979;22773346;20453000 135458 Q8NHY5 ABBA01048665;AF508547;AI446694;AL357054;AMYH01016013;BC101697;BC101699;CH471087;NM_148959 AAI01698;AAI01700;AAM28904;EAW55063;NP_683762;Q8NHY5 Hs.669039 5492497;5493207 UniSTS:481344;UniSTS:485332 MGC126746;MGC126748;RP11-532F6.1 OTTHUMP00000114799;checkpoint protein HUS1B;hHUS1B APPROVED protein-coding ENSG00000188996 16485 13722 609713 REVIEWED 1603943 HVCN1 hydrogen voltage-gated channel 1 This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 q24.11 109570874 109612000 - 111086491 111127617 - 6480464 16554753;16556803;19255483;19233200;18509058;18356202;17948262;16344560;15342556;12975309;12477932;22056415;20018719;20037153;20144758;20147290;20543828;20548053;20961760;22367212;21124855;20676047;21821008;22020278;19805063;20139987;20693294;21843503;21890473;22388960;23352164;23352165 84329 F8VPF7;F8VS40;F8W0B3;Q96D96 ABBA01005117;AC144522;AK293543;AMYH01004745;AY359054;BC007277;BC009731;BC032672;BP369986;BP375483;CH471054;DB310328;GU211002;NM_001040107;NM_001256413;NM_032369 AAH07277;AAH09731;AAH32672;AAQ89413;ADA61023;ADZ15859;BAG57024;EAW97933;EAW97934;EAW97935;EAW97936;EAW97937;NP_001035196;NP_001243342;NP_115745;Q96D96 Hs.211511;Hs.334637 1651257 RH68803 HV1;MGC15619;VSOP OTTHUMP00000241453;OTTHUMP00000241454;OTTHUMP00000241455;OTTHUMP00000241456;voltage sensor domain-only protein;voltage-gated hydrogen channel 1 APPROVED protein-coding ENSG00000122986 28240 17507 611227 VALIDATED 1346836 HYALP1 hyaluronoglucosaminidase pseudogene 1 7 7 7 q31.3 118257968 118263259 + 123241429 123246720 + 123454193 123459484 + 12690205;10493834;20210993 26062 AACC02000001;ABBA01057727;AC006029;AF149304;AMYH01017905;CH236947;NR_002731 EAL24332 Hs.381305 HYAL6 pseudo 5324 PROVISIONAL 1352418 HYD2 hypodontia, autosomal recessive (2) 7240710 9529357 8137 1337875 D16S3140 13822 1318030 HUS1 HUS1 checkpoint homolog (S. pombe) The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 7 7 p13-p12 47970308 47985771 - 48002885 48019222 - 1580863;6480464 10359610;10846170;10884395;9878245;9872989;19193627;18950845;18794804;18676680;18156970;17855402;17583730;17493829;17395641;16814252;16731526;16216273;15897895;15871698;15556996;15489334;15314187;15122316;14611806;14500360;12791985;12690205;12578958;12477932;12228248;11944979;11920544;11907025;11573955;11077446;10852904;10777662;9828130;9524127;11994305;17353931;19170196;19523882;19535328;19615952;19625176;19692168;20453000;20545769;20188637;18029348;18162465;20847938;21978893;15161933;21890473;21906983;22586102;21963094;21988832;22926736;23000965;19464297 3364 A4D2F2;B4DFI9;C9JA95;C9JCK8;F8WAW9;H7C272;O60921 AACC02000093;ABBA01041081;AC069282;AF076844;AF110393;AF503165;AJ227901;AK290459;AK294117;AMYH01017234;BC007013;BG286955;BT019481;BT019482;CA438762;CH236958;CH471128;CR536552;NM_004507;NR_037917;Y16893 AAC95526;AAD25350;AAH07013;AAM18968;AAV38288;AAV38289;BAF83148;BAG57450;CAA76518;CAG38789;EAL23807;EAW61001;EAW61002;NP_004498;O60921 Hs.152983 1691352;5014063;5016478;5037552 D15S1390;D8S2279;G41778;GDB:434012 hHUS1 OTTHUMP00000208364;OTTHUMP00000208365;OTTHUMP00000208366;OTTHUMP00000208378;checkpoint protein HUS1;hHUS1;hus1+-like protein APPROVED protein-coding ENSG00000136273 5309 04787 603760 REVIEWED 1352194 HYAL1 hyaluronoglucosaminidase 1 This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.3-p21.2 50312324 50324816 - 50337320 50349812 - 1599811;1580863;6480464;7240710 10339581 9223416;18029348;19435493;19201751;19140316;18718911;18677769;18281563;18083358;17503783;17502371;17415544;17227790;17145867;16831275;16713680;16641997;15489334;14702039;12845686;12684632;12477932;12084718;11929860;10702795;9503017;9409739;8793927;8603390;19345473;19478093;19567141;20072653;20849597;20558613;20572808;20634891;20960509;21695196;20473947;20875124;16900089;17324121;19577615;21829529;16344560;21559944;21963094;21988832;23166824;11296287;11944887;16600643;17170110;18390475;18725949 3373 B3KUI5;C9JB49;C9JRK1;Q8NFK8 ABBA01024552;AC002455;AF118821;AF173154;AF502904;AF502905;AF502906;AF502907;AF502908;AK097287;AK290816;AMYH01013168;AMYH01013169;BC025774;BC035695;CH471055;CR541933;DA566755;NG_009295;NM_033159;NM_153281;NM_153282;NM_153283;NM_153285;NR_047690;U03056;U73167;U90094;U96078 AAB67046;AAC02730;AAD04190;AAD09137;AAD24460;AAD53277;AAH25774;AAH35695;AAM60770;AAM60771;AAM60772;AAM60773;AAM60774;ABM85009;ABW03328;BAF83505;BAG53447;CAG46731;EAW65083;EAW65084;EAW65085;EAW65086;EAW65087;EAW65088;EAW65089;EAW65090;EAW65091;NP_149349;NP_695013;NP_695014;NP_695015;NP_695017;Q12794 Hs.75619 1721471;1771356;1793736;1793738;1793740;1793742;2117658;2127395;2219818 D3S4188;G59589;HYAL1__6616;PMC26875P1;PMC26875P2;PMC26875P3;PMC26875P4;STS-U03056;WIAF-2197 HYAL-1;LUCA1;MGC45987;NAT6 OTTHUMP00000211071;OTTHUMP00000211072;OTTHUMP00000211073;OTTHUMP00000211074;OTTHUMP00000211075;OTTHUMP00000211076;hyaluronidase 1;hyaluronidase-1;hyaluronoglucosaminidase-1;luCa-1;lung carcinoma protein 1;plasma hyaluronidase;tumor suppressor LUCA-1 APPROVED protein-coding ENSG00000114378 5320 06146 601492;607071 REVIEWED 733698 HYAL2 hyaluronoglucosaminidase 2 This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010] 3 3 p21.3 50330244 50335146 - 50355221 50360281 - 1580863;6480464 9712871;19443707;19435493;19140316;19081476;17229709;16837837;16641997;16344560;15923194;15596803;15489334;14702039;12684632;12676986;12584308;12477932;12174938;11731268;11296287;11085536;10989127;9933825;9790770;9110174;8619474;8603390;8125298;20554532;20849597;16990026;20072653;20864512;20875124;19577615;19366691;21743962;11944887;16191204;16600643;17170110;18390475;18725949 8692 C9J700;C9JBF5;C9JSD1;C9JSI7;C9K016;Q12891 ABBA01024551;AC002455;AF070608;AJ000099;AJ844619;AJ844620;AK092449;AK127945;AK225635;AK310963;AMYH01013170;BC000692;BU626745;CH471055;DB033601;DC358776;DC384113;NM_003773;NM_033158;U09577 AAB67045;AAC28656;AAC62823;AAH00692;ABM84764;ABW03621;BAG52554;BAG54602;CAA03924;CAH59742;CAH59903;EAW65092;EAW65093;EAW65094;NP_003764;NP_149348;Q12891 Hs.76873 1650708;1678135;1793744;1793746;1793748;1793750;2107219;2182080;7184428 HYAL2__7513;PMC26875P5;PMC26875P6;PMC26875P7;PMC26875P8;RH91527;STS-U09577;STS-W79515 LUCA2;LuCa-2 OTTHUMP00000210886;OTTHUMP00000210887;OTTHUMP00000210888;OTTHUMP00000210889;PH-20 homolog;PH20 homolog;hyal-2;hyaluronidase 2;hyaluronidase-2;hyaluronoglucosaminidase-2;lung carcinoma protein 2;lysosomal hyaluronidase APPROVED protein-coding ENSG00000068001 5321 04649 603551 REVIEWED 6481389 HYI-AS1 HYI antisense RNA 1 100873923 AL583862 APPROVED miscrna 41173 1344724 HYAL3 hyaluronoglucosaminidase 3 This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] 3 3 p21.3 50305266 50311903 - 50330259 50336899 - 1580863;6480464 16641997;15489334;12684632;12477932;12084718;11929860;10493834;10339581;16344560;17170110;18639473;20849445;10989127;11731267;11944887;14514708;16203124;20586096;20849597;22960332;11296287;16600643;18390475;21988832;23549009 8372 C9JB51;O43820 ABBA01024552;AF036035;AF040710;AF502909;AF502910;AF502911;AF502912;AK313455;AMYH01013168;BC005896;BC012892;CH471055;DB269188;DB319349;NM_001200029;NM_001200030;NM_001200031;NM_001200032;NM_003549;U73167;U90094 AAC02729;AAC70915;AAD04257;AAH05896;AAH12892;AAM60775;AAM60776;AAM60777;AAM60778;ABM82218;ABM85402;BAG36242;EAW65071;EAW65072;EAW65073;EAW65074;EAW65075;EAW65076;NP_001186958;NP_001186959;NP_001186960;NP_001186961;NP_003540;O43820 Hs.129910;Hs.729310 1678967;1721471;1771356;1793740;1793742;1847897;2117658;2127395;2219154;2219818 D3S4188;G59589;HYAL1__6616;HYAL3__6618;PMC26875P3;PMC26875P4;RH80851;SHGC-76997;STS-U03056;WIAF-2197 HYAL-3;LUCA-3;LUCA14;LUCA3;Minna14 OTTHUMP00000211052;OTTHUMP00000211054;OTTHUMP00000219781;hyal-3;hyaluronidase 3;hyaluronidase-3;hyaluronoglucosaminidase-3;lung carcinoma protein 3 APPROVED protein-coding ENSG00000186792 5322 604038 REVIEWED 1347409 HYAL4 hyaluronoglucosaminidase 4 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008] 7 7 7 q31.3 118288992 118321308 + 123272459 123304768 + 123485223 123517532 + 6480464 10493834;12477932;10989127;10737800;9847074;19889881;20379614;23086929 23553 C9J6F9;C9JU18;F8WDH9;Q2M3T9 AACC02000001;AB470346;ABBA01057726;AC006029;AF009010;AMYH01017905;BC104788;BC104790;BC143654;BF085228;BG013757;CH236947;CH471070;NM_012269 AAC98883;AAD43186;AAI04789;AAI04791;BAI49593;EAL24331;EAW83603;NP_036401;Q2M3T9 Hs.28673 1335149;2106503;2159716;2164251;5022450;5022578 D10S275;D1S1423;D7S1517;HYAL4__6619;RH71189;STS-W92156 CSHY OTTHUMP00000212007;OTTHUMP00000212009;chondroitin sulfate endo-beta-N-acetylgalactosaminidase;chondroitin sulfate hydrolase;hyal-4;hyaluronidase 4;hyaluronidase-4;hyaluronoglucosaminidase-4 APPROVED protein-coding ENSG00000106302 5323 05148 604510 REVIEWED 1343412 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase This gene encodes a member of the HECT E3 ubiquitin ligase family. The HECT domain lies in the C-terminus and contains the active-site cysteine which forms an intermediate ubiquitin-thioester bond. E3 family members are divided into three subfamilies based on their protein-protein interaction domains; this gene encodes a member of the SI(ngle)-HECT E3 subfamily. In lung, breast, and colorectal carcinomas, this gene is highly expressed. Mutations in this gene has been found in 3 unrelated families with X-linked syndromic mental retardation, Turner type. [provided by RefSeq, Nov 2009] X X p11.22 53576476 53697776 - 53559057 53713697 - 6480464;6484113;6907045;7240710 22939629;15989956;15989957;15767685;18029348;19148187;19047128;18923429;18488021;18252223;17567951;17081983;16964243;16269333;16213503;15772651;15567145;15489334;15302935;14702039;12477932;11042152;10998601;10997877;9205841;8125298;7968380;7478539;15231748;17478428;18598940;19596235;19615732;19713937;19851984;20007713;7943042;20534529;19013454;21507240;23314748;23383273;21167302;20164180;21613222;18775313;20023629;21726556;22863883;16196087;17314511;21730980;21907705;15840729;20624960;21522127;22277673;19805454;23000965;23209776;23349634;23438482;22552282;20639865;21910689;21987572;22016339;22108332;22203964;12938929;21139048;21890473;21906983;21963094;22586326;21298030;21846774;22748923;21145461;22561347;22840365;17203973;22053931;22174317;22190034;22213803;22505724;22944692;9575161 10075 H0Y5W0;H0Y659;H0Y7U1;Q5H962;Q5H963;Q9NSL6 AB002310;AB071605;ABBA01056430;ABBA01056431;ABBA01056432;ABBA01056433;ABBA01056434;ABBA01056435;ABBA01056436;ABBA01056437;ABBA01056438;ABBA01056439;ABBA01056440;ABBA01056441;ABBA01056442;ABBA01056443;ABBA01056444;ABBA01056445;ABBA01056446;ABBA01056447;AC231658;AF057569;AF161390;AK056671;AK091352;AK223167;AK294575;AL162050;AL592046;AMYH01022424;AMYH01022425;AY772009;AY929612;BC002602;BC018750;BC038184;BC063505;BC072421;BC107576;BU619074;BX323845;CH471154;CK002817;CR456813;CS228272;DQ097177;NG_016261;NM_031407;R60532;Z94044;Z97054 AAC62492;AAF28950;AAH02602;AAH18750;AAH38184;AAH63505;AAI07577;AAV90838;AAX24125;AAY98258;BAA20771;BAC06833;BAD96887;BAG57767;CAB82393;CAG33094;CAI39578;CAI39579;CAI39580;CAI39581;CAI42351;CAI42352;CAI42353;CAI42354;CAI42644;CAI42654;CAI42656;CAJ47378;EAW93160;EAW93161;EAW93162;EAW93163;EAW93164;EAW93165;EAW93166;NP_113584;Q7Z6Z7 Hs.136905 1652514;1656429;1685882;1705160;1723851;1851017;1853606;2123786;2125598;2140941;2158854;2162453;2169535;2169962;2185971;2189437;2191149;5113968;5491262 AL023608;AL023918;DXS8230;GDB:314533;IB772;L77820;MARC_15341-15342:1017678837:1;MARC_5969-5970:991939821:1;MARC_6753-6754:992007394:1;RH11216;RH118662;RH46399;RH65358;RH66308;RH79713;SHGC-80022;WI-12365;WI-14649;WI-19261 ARF-BP1;HECTH9;HSPC272;Ib772;KIAA0312;LASU1;MULE;URE-B1;UREB1 ARF binding protein 1;ARF-binding protein 1;BJ-HCC-24 tumor antigen;E3 ubiquitin-protein ligase HUWE1;HECT domain protein LASU1;HECT, UBA and WWE domain-containing protein 1;Mcl-1 ubiquitin ligase E3;OTTHUMP00000023356;OTTHUMP00000023357;URE-B1;URE-binding protein 1;homologous to E6AP carboxyl terminus homologous protein 9;large structure of UREB1;upstream regulatory element-binding protein 1 APPROVED protein-coding ENSG00000086758 30892 06608 300697;300706 REVIEWED 1605738 HYDIN2 HYDIN2, axonemal central pair apparatus protein (pseudogene) 1 q21.1 146310552 146334210 + 17974005;16938426;15616553;15489334;14702039;11347906;23314748 100288805 AB058767;AC109135;AC137783;AC241929;AK027571;AL359176;AL360154;AL833826;AL834340;AMYH01001373;NR_049745;NR_103556 BAB47493;BAB55207;CAD38687;CAD39007 Hs.648712;Hs.722871 1652521;1687512;1692966;1703544;1714481;1738529;1738819;1753513;1756953;1761191;1762305;1783388;1783448;1783450;2133528;5121041 AL034199;D16S2709;D16S2880;D1S2593;G16268;RH119752;RH46892;RH91258;SHGC-107375;SHGC-144122;SHGC-145202;SHGC-146154;SHGC-153429;SHGC-79050;SHGC-81325;SHGC-82751 DKFZp761B238;DKFZp761M1613;FLJ14665;HYDINP1;KIAA1864 APPROVED pseudo 33129 610813 INFERRED 1606741 HYKK hydroxylysine kinase 15 15 15 q25.1 55736426 55766032 + 76586961 76616770 + 78799906 78829715 + 6480464 18780872;18385738;18385676;16341674;12477932;22837378;20554942;20587604;19300482;19654303;19733931;20548021;21081471;21685187;21890473;22241472;21963094;22701590 123688 A2RU49;F8W6X5 ABBA01060585;ABBA01060586;ABBA01060587;ABBA01060588;AC027228;AK126453;AMYH01006835;BC132753;BC144383;BM045979;BM826406;CH471136;DN831396;NM_001013619;NM_001083612 A2RU49;AAI32754;AAI44384;ADR83508;BAC86556;EAW99167;EAW99168;NP_001013641;NP_001077081 Hs.307962 1755675 SHGC-142521 5-hydroxy-L-lysine kinase;5-hydroxylysine kinase;aminoglycoside phosphotransferase domain-containing protein 1;hydroxylysine kinase APPROVED protein-coding ENSG00000188266 34403 12515 614681 VALIDATED 1347981 HYDIN HYDIN, axonemal central pair apparatus protein This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013] 16 16 16 q22.2 55520311 55575377 - 69398790 69822070 - 70841287 71264625 - 634487;6480464;7240710 12719380 16938426;14702039;12477932;11347906;23022101;15342556;16344560;20379614;23314748;14985390;19389623;23144326;20301301 54768 B5MD83;F5GXK3;F5H8I6;F8W6C8;F8WD03;H0YF91;H0YH52;J3KRJ6;J3KSY5;J3KTP9;J3QL30;J3QL79;J3QQJ7;Q8TC08 ABBA01005490;ABBA01010649;ABBA01032106;ABBA01032107;ABBA01032108;ABBA01120532;ABBA01122930;ABBA01129483;ABBA01134509;ABBA01147534;ABBA01161681;ABBA01163924;ABBA01170919;ABBA01181235;ABBA01187804;ABBA01188843;ABBA01193821;ABBA01196799;ABBA01199931;ABBA01202693;ABBA01237312;ABBA01243837;AC027281;AC099495;AC138625;AK022933;AK026688;AK057467;AK074472;AK299016;AK299348;AK308296;AL122038;AL133042;AL137259;AL705531;AMYH01007787;BC028351;BC043273;BP228881;CH471166;DA758908;DB079205;DB339472;JX501991;NG_033116;NM_001198542;NM_001198543;NM_001270974;NM_017558 AAH28351;AAH43273;AFS65326;BAB14314;BAB15527;BAG61096;BAG61346;CAB59178;CAB61370;CAB70660;EAW59249;NP_001185471;NP_001185472;NP_001257903;NP_060028;Q4G0P3 Hs.461229;Hs.744828;Hs.745353 1341447;1652521;1687512;1692966;1703544;1714481;1738529;1738819;1752139;1753513;1756953;1761191;1762305;1768577;1783388;1783448;1783450;2133528;7184480 AL034199;D16S2709;D16S2880;D16S3133;D16S403;G16268;RH119752;RH46892;RH77879;RH91258;SHGC-106042;SHGC-107375;SHGC-144122;SHGC-145202;SHGC-146154;SHGC-153429;SHGC-79050;SHGC-81325;SHGC-82751 CILD5;DKFZp434D0513;DKFZp434L0850;FLJ12871;FLJ14665;HYDIN1;HYDIN2;KIAA1864;PPP1R31 OTTHUMP00000174909;OTTHUMP00000238203;OTTHUMP00000238234;OTTHUMP00000238236;OTTHUMP00000238237;hydrocephalus inducing;hydrocephalus inducing homolog;hydrocephalus-inducing protein homolog;protein phosphatase 1, regulatory subunit 31 APPROVED protein-coding ENSG00000157423 19368 11042 608647;610812 REVIEWED 1345477 HYMAI hydatidiform mole associated and imprinted (non-protein coding) This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010] 6 6 6 q24.2 145064475 145070320 - 144365716 144371560 - 144324023 144329867 - 6480464 16928428;16873690;15286800;12477932;11935319;10936046;20301706 57061 ABBA01025743;AF241534;AL109755;AMYH01016723;BC059359;NG_009384;NG_016174;NR_002768 Hs.657760 NCRNA00020 APPROVED miscrna 5326 606546 REVIEWED 1601737 HYI hydroxypyruvate isomerase (putative) This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p34.2 42199021 42201719 - 43689416 43692505 - 43916674 43919660 - 6480464;6907045 14702039;12477932;10561547;16189514;15862967;17207965;12107412;8889548;22490543;16341674;21906983;21963094 81888 E7EWH8;F6UJY1;F6UJY9;H0YB18;H0YB70;J9JIE9;Q5T013;Q5T015 ABBA01050956;AF284750;AF284751;AI023272;AK096244;AL583862;AMYH01000557;AMYH01000558;AY037165;AY775560;BC006140;BC019041;BM715679;BM826556;CA433653;CD672533;CH471059;JF911821;NG_029091;NM_001190880;NM_001243526;NM_031207 AAG59852;AAG59853;AAH06140;AAH19041;AAK67642;AAV84474;ADQ32181;AEP69243;BAG53238;EAX07090;EAX07091;EAX07092;EAX07093;EAX07094;NP_001177809;NP_001230455;NP_112484;Q5T013 Hs.709864 1688024;1696948;1699640 RH101946;RH103424;RH80143 HT036;MGC20767;RP11-506B15.5 OTTHUMP00000008689;OTTHUMP00000008690;OTTHUMP00000008691;OTTHUMP00000008692;OTTHUMP00000008693;OTTHUMP00000227777;OTTHUMP00000227778;OTTHUMP00000227779;endothelial cell apoptosis protein E-CE1;hydroxypyruvate isomerase homolog;putative hydroxypyruvate isomerase APPROVED protein-coding ENSG00000178922 26948 11039 REVIEWED 1606679 HYLS1 hydrolethalus syndrome 1 This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] 11 11 11 q24.2 122913542 122930564 + 125258719 125275749 + 125753509 125770541 + 6480464;7240710 18648327;15843405;14702039;12477932;10486328;8889548;16169070;20379614;17207965;18029348;21906983 219844 Q96M11 ABBA01031233;AK057477;AK127394;AMYH01004109;AP000842;BC015047;BM970011;CH471065;NG_011842;NM_001134793;NM_145014 AAH15047;ADQ31909;BAB71503;BAG54500;EAW67665;EAW67666;NP_001128265;NP_659451;Q96M11 Hs.98133 1298323;1335082;1662839;2151203 D11S933;D11S934;L02008;RH47976 FLJ32915;HLS OTTHUMP00000231319;OTTHUMP00000231320;hydrolethalus syndrome protein 1 APPROVED protein-coding ENSG00000198331 26558 08148 236680;610693 REVIEWED 1604376 HYPK huntingtin interacting protein K 15 15 15 q15.3 20982083 20984249 + 41879913 41882079 + 44092619 44094787 + 6480464 9700202;17947297;16950395;14702039;12477932;11042152;18076027;20154145;22863883;23272104;21832049;22939629 25764 J3QT56;Q9NX55 ABBA01039223;AC018512;AF049613;AF161485;AK022435;AMYH01006607;BC019262;BQ478474;BQ772100;CH471082;NM_001199885;NM_016400 AAC26849;AAF29100;AAH19262;EAW77241;EAW77242;NP_001186814;NP_057484;Q9NX55 Hs.730672 1711310;1805632;1805984;1806156;1806558;1933758;1933760;1933762;1933764;1933766;1933768;1933770;1933772;1933774;1933776;1933778;1933780;1933782;1933784;1933786;1933788;1933790;1933792;2175857;5024039;5024413;5024761;5113089;5124309 D16S325;ECD03766;ECD03945;ECD04032;ECD04236;L17877;REN37712;REN37713;REN37714;REN37715;REN37716;REN37717;REN37718;REN37719;REN37720;REN37721;REN37722;REN37723;REN37724;REN37725;REN37726;REN37727;REN37728;REN37729;RH36905;RH39454;RH64965;SHGC-33350;SHGC-84907 C15orf63;HSPC136 Huntingtin interacting protein K;OTTHUMP00000066513;OTTHUMP00000196872;huntingtin yeast partner K;huntingtin-interacting protein K APPROVED protein-coding ENSG00000140264 18418 13724 612784 VALIDATED 1345507 IBD2 inflammatory bowel disease 2 7240710 8841195;9634527 3378 1331602;1335816;1336551;1337215;1338710;1340029;1340523;1342304;1357235;1657833;7183425;7186843 D12S2078;D12S303;D12S326;D12S345;D12S368;D12S43;D12S83;D12S85;D12S92;D12S95 5332 1348870 IBD3 inflammatory bowel disease 3 7240710 10577918 30829 1337397;1337699;1338417;1338684;7188001;7191085 D6S1019;D6S1281;D6S276;D6S289;D6S461 13863 1345387 IBD4 inflammatory bowel disease 4 7240710 10747815 50608 7185507;7185537 D14S261;D14S283 5333 1346937 IBD5 inflammatory bowel disease 5 7240710 10777714 50941 1298302;1335487;1340849 D5S1480;D5S647;D5S816 5334 1350571 IBD6 inflammatory bowel disease 6 7240710 10777714 50942 1298192 D19S1034 5335 1352590 IBD7 inflammatory bowel disease 7 7240710 10814724;9636179 57042 1334695;1336052;1336787;1341324;1341785;7185197;7186331 D1S1597;D1S199;D1S236;D1S2670;D1S2697;D1S507 14242 1348016 IBD8 inflammatory bowel disease 8 7240710 170595 20235 1351354 IBD9 inflammatory bowel disease 9 7240710 12354785 317669 1299975 D3S1297 20236 1349696 IBGC1 idiopathic basal ganglia calcification 1 7240710 10441584 23706 1337077;1340987;1341898 D14S1014;D14S306;D14S75 5336 1345945 IBM3 inclusion body myopathy 3, autosomal dominant 10205275;9708547 3380 5338 1606826 HYOU1 hypoxia up-regulated 1 The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. [provided by RefSeq, Oct 2008] 11 11 q23.1-q23.3 118420110 118433122 - 118914896 118927925 - 6480464;6907045 17353931;9020069;19106412;18404158;17481612;17330988;17131193;16543725;16335952;21319273;16263699;15952740;15342556;15240565;12754519;12553534;12477932;11690552;11231630;10965054;10837345;10037731;9645760;9006956;8878445;8125298;20626887;19913121;20628086;19225868;19812200;21296878;22863883;22939629;20000738;21903422;21139048;21890473;21906983;22586326;23097496;22190034;22268729 10525 B7Z909;E9PJ21;E9PL22;J3KSJ2;J3KSR2;J3KT27;J3KTF1;J3QL06;J3QLE9;J3QQH7;Q6IN67;Q9Y4L1 AA580314;AB009979;ABBA01039681;AK127324;AK222756;AK294905;AK297260;AK299648;AK301514;AK304264;AK307624;AK314178;AMYH01004080;AP003392;BC004560;BC017726;BC072436;BE733065;BE791468;BP236985;BP358970;CH471065;CR749610;DQ350134;DQ372932;EF444986;NM_001130991;NM_006389;U65785 AAC50947;AAH04560;AAH17726;AAH72436;ABC75106;ABD14370;ACA06002;BAD96476;BAF80348;BAG36860;BAG54482;BAH11920;BAH12532;BAH13088;BAH13502;BAH14145;CAH18405;EAW67440;EAW67441;EAW67442;EAW67443;NP_001124463;NP_006380;Q9Y4L1 Hs.277704 1668998;2124178;2219156;5123790;5491475 D11S1001;HYOU1__6621;MARC_14873-14874:1010767189:1;NIB361;RH48731 DKFZp686N08236;FLJ94899;FLJ97572;GRP-170;Grp170;HSP12A;ORP-150;ORP150 150 kDa oxygen-regulated protein;170 kDa glucose-regulated protein;GRP-170;ORP-150;OTTHUMP00000232709;OTTHUMP00000232711;OTTHUMP00000232713;glucose-regulated protein 170;hypoxia up-regulated protein 1;oxygen regulated protein (150kD) APPROVED protein-coding ENSG00000149428 16931 03448 601746 REVIEWED 1606941 IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 1 1 1 q42.13 201543670 201559968 + 226420139 226436581 + 228353429 228369958 + 16710414;15146197;14702039;19656490;20877624;21139048;22323289;22114354;21963094 200205 G5EA38;Q5T440 ABBA01005832;AK022796;AK023911;AK303837;AL359510;AMYH01001792;BC028052;BI820993;CA425016;CH471098;CN285775;DN831582;NM_001010867 BAG64781;EAW69862;NP_001010867;Q5T440 Hs.237017;Hs.636881 1697734;1701624;5020948;5022578 D1S1423;G35510;RH102389;RH104454 C1orf69;FLJ12734;FLJ13849 OTTHUMP00000037760;iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa;iron-sulfur cluster assembly factor homolog;putative transferase C1orf69, mitochondrial;putative transferase CAF17, mitochondrial APPROVED protein-coding ENSG00000181873 27302 17318 615316 VALIDATED 737044 IAPP islet amyloid polypeptide Islet, or insulinoma, amyloid polypeptide is commonly found in pancreatic islets of patients suffering diabetes mellitus type II, or harboring an insulinoma. While the association of amylin with the development of type II diabetes has been known for some time, a direct causative role for amylin has been harder to establish. Studies suggest that amylin, like the related beta-amyloid (Abeta) associated with Alzheimer's disease, can induce apoptotic cell-death in particular cultured cells, an effect that may be relevant to the development of type II diabetes. [provided by RefSeq, Apr 2011] 12 12 p12.1 21417085 21423683 + 21525802 21532914 + 1580863;2313356;2313357;2311446;2313359;6480464;6907045 19190104;19033417;19100955;18641056 1282806;22404928;12717720;12717671;12706321;12706318;12679865;12611974;12589759;12588049;12540610;12477932;12441106;12367525;12298020;12221327;12086946;11979402;11786016;11318791;11246872;11145957;11076863;10931181;10385705;9794116;9115263;8845235;8772735;8771910;8605675;8557106;8468047;8307253;7929615;3535798;3317417;3181427;3053705;3035556;2690069;2651160;2546670;2365085;2223885;2189768;2039456;8152488;2608057;10342886;19346479;19554505;19427320;19244249;19151199;19148619;19002432;18989933;18989932;18815541;18751967;18710262;18624122;18615201;18556473;18497871;18486611;18483616;18408164;18291688;17911343;17804609;17722920;17660321;17617411;17563070;17495860;17475933;17374526;17353506;17213278;17212787;17123962;16950544;16866369;16804082;16531504;16403520;16331989;16303136;16204373;16142909;15983227;15929864;15878744;15811365;15778964;15710403;15638806;15527771;15522881;15358791;15342243;15321714;15292167;14659752;14656003;14613923;14578294;14532296;12767835;21616080;22206987;22334700;22542527;20186753;21219896;18240029;19146426;19338997;19402658;19538245;19573128;19578796;19647738;19720065;19794060;19810772;19817482;19948124;20028124;20416077;12036966;20630475;21130765;21138812;20923655;20735358;20509034;20887731;20421596;20429571;18577758;19931436;20536124;19913121;20628086;20579740;20814419;21148563;21281583;20809197;21158384;22734583;21391619;21606325;21266296;21555785;21566116;21742788;23261986;21695120;21984830;20807286;21865171;21266924;21633185;21916515;21947943;22135135;22325282;21935471;22193043;22038516;22003494;22120172;22106265;22187437;22693597;22210153;22944668;23229548;23332070;23256729;23145779;23337872;23380070;23458258;22781911;22876830;23016872 3375 F5H0S1;F5H1F0;H0YF85;P10997 ABBA01067968;AC006559;AMYH01004319;BQ548699;CH471094;CK905016;DQ516082;J04422;M21785;M26650;M27503;NM_000415;X13859;X14902;X14903;X14904;X14905;X52818;X52819;X55634;X56030;X68830 AAA35524;AAA35983;AAA51728;AAA52281;AAI11850;ABG27010;CAA33031;CAA33032;CAA33033;CAA37002;CAA39504;CAA48724;CAB57803;CAB57804;EAW96426;EAW96427;NP_000406;P10997 Hs.46835 1663368;1743979;2170817;2217460;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:384719;IAPP_3999;SGC35306;SHGC-57392 AMYLIN;DAP;IAP Islet amyloid polypeptide (diabetes-associated peptide; amylin);OTTHUMP00000240131;OTTHUMP00000240133;amylin;diabetes-associated peptide;insulinoma amyloid peptide;islet amyloid polypeptide APPROVED protein-coding ENSG00000121351 5329 01005 147940 REVIEWED 1605825 IAH1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 2 2 2 p25.1 9526559 9540463 + 9532121 9546042 + 9614670 9628591 + 6480464 14702039;12477932;21139048 285148 B4DMV3;C9J5J2;C9JDY4;C9JE02;F8WF34;H7BXP8;H7C5G1;Q2TAA2 ABBA01015589;AC080162;AK092982;AK291984;AK297648;AMYH01010093;BC019061;BC039709;BC059410;BC067865;BC111025;CH471053;NM_001039613 AAH19061;AAH59410;AAH67865;AAI11026;BAF84673;BAG60015;EAX00983;EAX00984;NP_001034702;Q2TAA2 Hs.744980 1341460;1849264;2141861;2173042;5037552 D2S2207;D8S2279;RH77928;WI-11400;WIAF-2163 MGC102860 OTTHUMP00000214018;isoamyl acetate-hydrolyzing esterase 1 homolog protein-coding 27696 PROVISIONAL 2816631 IBTKP1 IBTK pseudogene 1 18 18 18 q12.3 38428074 38428757 + 39873426 39874109 + 41619428 41620111 + 100127883 ABBA01022346;AC083760;AMYH01008962;NG_022990 pseudo 31672 INFERRED 735575 IBSP integrin-binding sialoprotein The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008] 4 4 q21.1 88939726 88952098 + 88720702 88733601 + 1580863;6480464;6907045 3597437;19453261;19386107;19127545;19079262;18302613;17956871;17213971;17050866;16995818;16000302;15795688;14524533;12750290;12477932;11979972;11968014;11459848;11076863;8406493;8401509;8061918;2461939;2404984;20654748;21533022;10640428;19376608;19492334;20164292;20967421;22865667;22349547;23119009;23064961 3381 P21815 AA452255;ABBA01063538;ABBA01063539;AC093768;AI751848;AMYH01014381;BQ573754;CH471057;CS025624;DV462680;J05213;L09554;L09558;L24756;L24759;NM_004967 AAA60549;AAC37560;AAC95490;AAI11921;CAI61689;EAX05998;EAX05999;EAX06000;NP_004958;P21815 Hs.518726 1648559;1673662;1677002;1704460;2146619;2219820 IBSP__6436;RH71344;RH94127;SHGC-56508;SHGC-82974;STS-J05213 BNSP;BSP;BSP-II;SP-II BSP II;OTTHUMP00000161175;bone sialoprotein 2;bone sialoprotein II;cell-binding sialoprotein;integrin binding sialoprotein;integrin-binding sialoprotein (bone sialoprotein, bone sialoprotein II) APPROVED protein-coding 5341 00951 147563 REVIEWED 1317850 IARS isoleucyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012] 9 9 q21 94012446 94095859 - 94972625 95056038 - 1580863;6480464;6907045 7721108;16344560;15164053;12477932;9878398;9556618;9466989;8816763;8812440;8052601;1651330;17353931;21145461;21319273;18541383;10669760;10913161;11714285;16055448;19615732;20379614;8078941;8188258;8449960;9278442;18029348;21832049;22863883;22939629;16196087;21628590;18457437;21081666;18781797;21139048;21890473;21906983;14702039;19380743;22053931;22190034;22505724;22797925 3376 J3KR24;P41252;Q5TCC4;Q5TCC5;Q5TCC6;Q5TCC9;Q5TCD1;Q5TCD2;Q6P0M4;Q7L4K8 AA731323;AB209234;ABBA01018583;ABBA01018584;AK057920;AK123909;AK127087;AK293014;AK301272;AK308202;AL136097;AMYH01021508;BC008318;BC065552;BX537417;BX537429;BX538109;BX647071;BX647236;BX647430;BX648567;CH471089;D28473;DA335066;NM_002161;NM_013417;NR_073446;U04953 AAA80153;AAH08318;AAH65552;ACE86708;ACE87393;BAA05835;BAD92471;BAF85703;BAG62834;CAD97659;CAD97671;CAD98022;EAW62809;EAW62810;EAW62811;EAW62812;EAW62813;NP_002152;NP_038203;P41252 Hs.445403 1662726;1735884;1751561;1772099;2109421;2172572;2187102;5024691 D9S1003E;IARS__6434;RH17403;RH69269;RH93505;SHGC-105444;SHGC-31417;SHGC-34071 FLJ20736;IARS1;ILERS;ILRS;IRS;PRO0785 OTTHUMP00000021636;isoleucine tRNA ligase 1, cytoplasmic;isoleucine--tRNA ligase;isoleucine--tRNA ligase, cytoplasmic;isoleucine-trna synthetase;isoleucyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000196305 5330 02832 600709 REVIEWED 733652 ICA1 islet cell autoantigen 1, 69kDa This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 7 7 p22 8119339 8268710 - 8152814 8302185 - 1580863;2311486;2311487;633043;2311488;6480464;6907045 14679103;11751995;7918678;8647206 17353931;12682071;8326004;18187231;16381901;16344560;15489336;15303579;12477932;12409289;12383988;11076863;10433084;9693970;9028728;8975715;8889548;8781774;8777998;8679127;8603775;8162706;7840858;7822811;7758883;7497880;22447927;20379614;20526340;18029348;20962850;21988832;23251661 3382 B3FTQ2;B9ZVM7;C9IZC7;C9J3Y4;C9J8Y3;E7ENI6;E9PDL4;F8WET5;Q05084;Q6LCR0;Q6LCT9;Q96HG3 AA581444;AACC02000012;ABBA01056524;ABBA01056525;ABBA01056526;ABBA01056527;ABBA01056528;ABBA01056529;AC006042;AC007009;AI346099;AK292106;AMYH01017064;AMYH01017065;BC005922;BC008640;BM716117;BU728575;CH236948;CH471073;DA076379;DA154134;DB010744;DB040266;EU416199;GN344071;GN344073;L01100;L21181;NM_001136020;NM_001276478;NM_004968;NM_022307;U26591;U26592;U37183;U38260;U71251;U71254;U71264 AAA02564;AAA64927;AAB19033;AAB19034;AAB94737;AAB94738;AAC50935;AAC50936;AAD50515;AAH08640;ABM82431;ABW03414;ACB47390;BAF84795;CAL37894;CAY55971;CAY55972;EAW93610;EAW93611;EAW93612;EAW93613;EAW93614;EAW93615;EAW93616;EAW93617;EAW93618;EAW93619;EAW93620;NP_001129492;NP_001263407;NP_004959;NP_071682;Q05084 Hs.487561 1665511;2106505;2138301;2140805;2174450 D7S2321;GDB:1318390;GDB:3755069;ICA1__6438;STS-H15167 ICA69;ICAp69 69 kDa islet cell autoantigen;OTTHUMP00000200933;OTTHUMP00000200934;OTTHUMP00000200941;OTTHUMP00000200993;diabetes mellitus type I autoantigen;islet cell autoantigen 1;islet cell autoantigen 1 isoform;islet cell autoantigen 1, 69 kda;islet cell autoantigen p69;p69 APPROVED protein-coding ENSG00000003147 5343 00971 147625 REVIEWED 1323289 IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene binds to Bruton's tyrosine kinase (BTK) and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. [provided by RefSeq, Jul 2008] 6 6 6 q14.1 83302847 83380340 - 82936675 83014167 - 82879956 82957448 - 6480464 11577348;17353931;18596081;17081983;15489334;14574404;12477932;10718198;21145461;19782003;20721470;18029348;21482705;21906983;22321011;21988832;23291589 25998 D6R9F4;E7EPI0;E9PDR5;H0Y9N7;Q8TAI4 AB037838;ABBA01040443;AF235049;AJ420588;AJ420593;AK123460;AK126777;AL050018;AL050333;AMYH01016464;BC012551;BC027483;BC027490;BC035860;BC038244;BC042171;BC092410;BC112929;BC113696;BC113698;BC143736;BC143745;BC143748;CB265364;CH471051;DQ005633;DQ005634;DQ005635;NM_015525 AAG27170;AAH27490;AAH38244;AAH42171;AAI13697;AAI13699;AAI43737;AAI43746;AAY55906;AAY55907;AAY55908;BAA92655;BAG54372;CAB43239;EAW48685;EAW48686;EAW48687;EAW48688;NP_056340;Q9P2D0 Hs.306425 1646692;1664411;1767934;2139045;2168285;2183162;2219822;5022578 A002S42;D1S1423;D6S1109E;D6S1188E;D6S1780;D6S1882;IBTK__6437;RH69271 BTBD26;BTKI;KIAA1417;MGC142256;MGC142258;RP1-93K22.1 BTK-binding protein;Bruton agammaglobulinemia tyrosine kinase inhibitor;OTTHUMP00000016784;OTTHUMP00000220770;OTTHUMP00000220771;inhibitor of Bruton tyrosine kinase;inhibitor of Bruton's tyrosine kinase;inhibitor of Bruton's tyrosine kinase-alpha;inhibitor of Bruton's tyrosine kinase-beta;inhibitor of Bruton's tyrosine kinase-gamma APPROVED protein-coding ENSG00000005700 17853 12105 606457 REVIEWED 1604336 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 1 1 1 q41 193486662 193540592 + 218334078 218388006 + 220267455 220321383 + 6480464;6907045 19209188;17081983;16710414;15489334;14702039;12477932;9466989;20877624;21832049;22939629;18029348;15161933;21890473;21906983;22318606;22586326 55699 F6SBX2;Q9NW42 ABBA01048081;ABBA01048082;AC103590;AK001188;AK001726;AK022665;AK291432;AMYH01001741;AMYH01001742;AY267462;AY952883;BC010218;BC040376;BC047880;BC137438;BI459732;BM149097;CH471100;D28500;NM_018060 AAH10218;AAH40376;AAH47880;AAI37439;AAP94033;BAA91544;BAA95147;BAB14164;BAF84121;EAW93305;NP_060530;Q9NSE4 Hs.262823 1760173;2117510;2117512;2174661;5115059 RH35983;RH69283;SHGC-132443;SHGC-23988;SHGC-31919 FLJ10326;ILERS OTTHUMP00000035401;isoleucine tRNA ligase 2, mitochondrial;isoleucine--tRNA ligase;isoleucine--tRNA ligase, mitochondrial;isoleucine-tRNA synthetase 2, mitochondrial;isoleucyl-tRNA synthetase, mitochondrial;mitochondrial isoleucine tRNA synthetase protein-coding ENSG00000067704 29685 13334 612801 VALIDATED 1353321 ICCA infantile convulsions and paroxysmal choreoathetosis 7240710 9382100 3387 5349 128200;602066;605751 1346474 ICA1L islet cell autoantigen 1,69kDa-like 2 2 2 q33.2 197390623 197489058 - 203346118 203444616 - 203637873 203736371 - 6480464 16344560;15815621;15489334;14702039;12477932;11586298;20379614 130026 C9J0T2;C9J101;C9J1M7;C9J5Z0;C9J9Z8;C9JAQ4;C9JDK6;C9JDM8;C9JEN4;C9JEP0;C9JP49;C9JRB6;F8WBK1;F8WBQ1;Q8NDH6;Q96Q33 AB053316;AB053317;ABBA01062589;ABBA01062590;ABBA01062591;AC010900;AC098831;AC131950;AK055978;AK092310;AK124756;AL833904;AMYH01011414;BC000993;BC063876;BC093902;BC112235;CH471063;DB097704;DB496884;NM_138468;NM_178231 AAH00993;AAH63876;AAH93902;AAI12236;AAY15007;AAY24091;AAY24286;BAB69024;BAB69025;BAB71062;BAG52528;CAD38760;EAW70313;EAW70314;EAW70315;EAW70316;NP_612477;NP_839945;Q8NDH6 Hs.516629 1340465;1759667;2131862;2135400;2169860;5014051;5015619;5015961;5016478;5022578;5022651;5024039;5037552 D11S2921;D11S3114;D15S1477;D16S325;D1S1423;D2S2289;D8S2278;D8S2279;GDB:434012;RH48349;SHGC-150744;SHGC-30128;STS-AA019054 ALS2CR14;ALS2CR15;DKFZp434E1919;MGC138440 Ica69-related protein;OTTHUMP00000163755;OTTHUMP00000206072;OTTHUMP00000206073;OTTHUMP00000206264;OTTHUMP00000208098;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 14 protein;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 15 protein;islet cell autoantigen 1-like protein protein-coding 14442 12446;12447 VALIDATED 1351795 ICAM2 intercellular adhesion molecule 2 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q23.3 59433687 59451726 - 62079955 62097994 - 1580863;6480464 2497351;11857637;18978946;18842965;18155766;17609265;17059578;16987074;16857989;16335952;15572059;15548573;15545280;15489334;14970226;12477932;12193230;12097408;11869363;11375520;11017109;10352278;10077629;10050664;9786897;9759625;9726832;9705328;9638475;9473377;9472040;9378774;9153399;8889548;8870715;8858161;8125298;7916296;7905020;7553659;7526720;1769660;1676048;1448173;18768213;19175829;19423540;19524015;20237496;20406964;20438785;20955708;17192395;23591197;22190034;22645275 3384 J3KSR9;J3QKR4;J3QQR8;J3QQX6;J3QRQ1;J3QRT5;P13598;Q6FHE2 AB209878;ABBA01035312;ABBA01035313;AC005803;AF212826;AF340052;AF340053;AK223219;AK293110;AK295382;AMYH01008552;BC003097;BM695682;BX363874;CA841927;CH471109;CR541812;CR541834;GN336652;M32331;M32334;NM_000873;NM_001099786;NM_001099787;NM_001099788;NM_001099789;X15606 AAA36035;AAF34580;AAH03097;AAQ14909;AAQ14910;ABM82769;ABM85957;BAD93115;BAD96939;BAF85799;BAH12052;CAA33630;CAG46611;CAG46633;CAY39145;EAW94216;EAW94217;EAW94218;EAW94219;EAW94220;NP_000864;NP_001093256;NP_001093257;NP_001093258;NP_001093259;P13598 Hs.431460 1664046;1768523;2119599;2149998 A004O13;D17S1976;D17S2034;WI-15726 CD102 ICAM-2;intercellular adhesion molecule 2 APPROVED protein-coding ENSG00000108622 5345 00888 146630 REVIEWED 1343048 ICAM3 intercellular adhesion molecule 3 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. [provided by RefSeq, Jul 2008] 19 19 p13.3-p13.2 10305452 10311307 - 10444452 10450345 - 1580863;6480464 22117198;21239057;1448174;8459213;11857637;1448173;18354203;18261116;17913807;17591777;17570115;17145745;16335952;15958383;15880373;15572059;15163761;14970226;14726630;14718574;14704632;12743567;12600815;12571844;12477932;12021323;11799126;11784723;11353828;11257134;11179968;11017109;10721994;10626904;10380912;9661300;9638475;9539703;9473377;9298994;9268366;8889548;8777714;8605703;8325327;8125298;7876557;7851905;7836774;7822326;7553659;7523142;7482494;19913121;20628086;12082081;15728350;16169070;19225705;19423540;19801714;19898481;19956847;20086017;20331378;20406964;20438785;9705328;21102463;21381019;21832049;22479382;21712539;22396536;22205703;23144795 3385 K7ELH4;K7EMH0;K7EP52;K7EQC7;K7ERF0;K7ERJ4;K7ERN2;P32942 ABBA01029936;AC011511;AC114271;AF340060;AF340061;AK226023;AK309643;AK312826;AMYH01009471;AX746321;BC034409;BC040123;BC046121;BC058903;BM676382;CH471106;DC425414;DQ217937;NM_002162;S50015;X69711;X69819 AAB24331;AAH58903;AAQ14917;AAQ14918;ABB01007;BAG35683;CAA49369;CAA49473;CAD97564;EAW84092;EAW84096;NP_002153;P32942 Hs.654563 1697360;1744159;2120642 GDB:433273;RH102178;RH16014 CD50;CDW50;ICAM-R ICAM-3;intercellular adhesion molecule 3;intercellular adhesion molecule-3 APPROVED protein-coding ENSG00000076662 5346 00889 146631 REVIEWED 69659 ICAM1 intercellular adhesion molecule 1 This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008] 19 19 p13.3-p13.2 10242779 10258291 + 10381517 10397291 + 1358664;1625758;1625756;1625753;1580863;2313467;2313468;2313469;2313472;2313474;2313475;2312765;2313476;2312766;2313470;2313471;2306987;2306988;2313473;4145465;4145348;4145368;4145375;4145405;4145427;4145485;4145501;4145436;4145493;4145407;4145429;4140425;4145336;4144131;4145520;4145507;4145511;4145621;2325165;4145364;4145388;4145510;4145328;4145390;4145519;4145521;4145331;4145532;4145329;2325163;4145365;4145518;4145522;4145335;4145516;4145409;4145422;4145440;4145459;4145464;4145490;2308951;4145377;4145414;4145446;4145497;4145502;4145509;4145463;4145444;4145449;4145536;4145523;5685684;6480464;6484113;6907045;7240710;7207796 12498973;16978373;15638228;11782876;19394054;19373518;19343356;18834676;18692933;18505543;18619052;17990298;18299691;19246972;18942221;18413153;18093596;18796303;19949019;20851484;20731855;20646933;20497436;20368504;19858233;19819333;21034646;19837405;20495289;20368503;20209309;20885979;20871618;19047814;19728926;19536890;20508868;11815996;20820841;20584104;19714575;20980457;20570121;19056932;19034056;20953388;20600813;20973827;12923961;20810760;19218648;18794286;20950211;19254480;20451670;20388520;20888423;20128420;19968652;19846873;19507274;20638379;20447389;20395558;19828841;19776691;20205697;20004360;20400685;20237791;20601373;18764914;20182448;22261574 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3383 E7ESS4;K7EKL8;P05362 ABBA01029939;ABBA01029940;ABBA01197211;AC011511;AF340038;AF340039;AK130659;AK298054;AK298983;AK301412;AK312636;AMYH01009468;AY225514;BC015969;BG149901;BP346334;BT006854;CH471106;J03132;M24283;M55038;M55091;M65001;NG_012083;NM_000201;S82847;U86814;X06990;X57151;X59286 AAA52708;AAA52709;AAA52710;AAA60393;AAB46863;AAB51145;AAH15969;AAO30128;AAP35500;AAQ14901;AAQ14902;ABM84711;ABM92232;BAG35520;BAG60348;BAG61077;BAG62944;CAA30051;CAA40441;CAA41977;EAW84086;EAW84087;NP_000192;P05362 Hs.643447 1700016;1791436;1791864;1795082;1795122;2123661;2157173;5022651 D11S2921;D19S1031;D19S1169;PMC110371P1;PMC128235P2;PMC97258P2;PMC98604P1;RH103620 BB2;CD54;P3.58 ICAM-1;cell surface glycoprotein P3.58;human rhinovirus receptor;intercellular adhesion molecule 1;intercellular adhesion molecule 1 (CD54), human rhinovirus receptor;major group rhinovirus receptor APPROVED protein-coding ENSG00000090339 5344 00996 147840;611162 REVIEWED 1312830 ICAM5 intercellular adhesion molecule 5, telencephalin The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008] 19 19 p13.2 10261655 10268453 + 10400655 10407454 + 1580863;6480464 8995416;19124506;18223167;17293864;16733712;16434609;15144186;12665801;12477932;11719200;10893271;10741396;10592287;10402269;9828136;9717930;9638475;9556028;7724062;19913121;20628086;20644561;19423540;19773279;20237496;20331378;20406964;20438785;20568250;22781129;16820411;23079714 7087 K7EIL3;Q8N6I2;Q9UMF0 ABBA01029939;AC011511;AF082802;AI199660;AI568610;AMYH01009468;AMYH01009469;AX746344;BC026338;BC030132;CH471106;NM_003259;U72671 AAC50959;AAC97931;AAH26338;AAH30132;CAD97565;EAW84091;NP_003250;Q9UMF0 Hs.465862 1658655;2116418;2159733;2186679 RH35820;RH78910;STS-H18323;STS-U72671 TLCN;TLN ICAM-5;intercellular adhesion molecule 5;telencephalin APPROVED protein-coding ENSG00000105376 5348 03509 601852 REVIEWED 1353855 ICR1 ichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma 3388 5352 1345761 ICR2B ichthyosis congenita II, lamellar ichthyosis B 7240710 3389 5353 242500;601277 1344536 ICR3 ichthyosis congenita III, vulgaris-like recessive ichthyosis 3390 5354 1349639 ICR5 ichthyosis congenita V, Sjogren-Larsson-like 3392 5356 1353770 ICR4 ichthyosis congenita IV, ichthyosis-prematurity syndrome 3391 5355 1345035 ICS1 immotile cilia syndrome 1 1601418 3393 5357 1345110 ICK intestinal cell (MAK-like) kinase Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008] 6 6 p12.1 52974057 53034559 - 52866098 52926600 - 6480464;7240710 10699974;19240061;19185282;18029348;16344560;15988018;15489334;15231748;14574404;12477932;12103360;10231032;16954377;19696144;20459822;21832049;22356909;21110914;22761715;23383273 22858 B3KQG4;Q9UPZ9 AB023153;ABBA01050546;AF152469;AF225919;AI699136;AJ420557;AK074892;AL031178;AL162581;AMYH01016356;BC035807;BC136420;BC136421;BC152464;BX647493;CH471081;DA456873;NG_012159;NM_014920;NM_016513 AAF37278;AAG43364;AAH35807;AAI36421;AAI36422;AAI52465;BAA76780;BAG52026;EAX04400;EAX04401;EAX04402;EAX04403;EAX04404;NP_055735;NP_057597;Q9UPZ9 Hs.417022 1654680;1655828;1655830;1668919;1691062;1694166;1849854;1854124;2158251;2219824;5015619;5019645 A005Z26;A006C43;AL035186;D11S3114;D6S1221E;G20625;G32322;ICK__6439;RH45102;RH68677;RH91718;SGC35018 ECO;KIAA0936;LCK2;MGC46090;MRK MAK-related kinase;OTTHUMP00000016630;hICK;laryngeal cancer kinase 2;serine/threonine protein kinase;serine/threonine-protein kinase ICK APPROVED protein-coding ENSG00000112144 21219 09996 612325;612651 REVIEWED 1319054 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 19 19 p13.2-cen 10258650 10260198 + 10397643 10399260 + 1580863;6480464 8566017;6431896;11857637;17609430;16985175;16564726;15847654;15489334;15355350;15308566;14551135;12694184;12477932;12477717;11435317;10846180;9638475;8639917;8563755;8202485;7632968;19913121;20622166;20628086;21533024;18549656;19423540;19729601;19773279;20167578;20331378;20406964;20416077;20438785;20568250;18604267;20015873;22147898;23417980 3386 Q14773 ABBA01029939;AC011511;AMYH01009468;BC000046;BC029364;BT009816;BX114065;CH471106;DQ011692;L27670;L27671;NG_007728;NG_012083;NM_001039132;NM_001544;NM_022377;S78852;S78853;X93093 AAA59537;AAA59538;AAB35046;AAH00046;AAH29364;AAP88818;AAY16986;ABM83576;ABM86815;CAA63646;EAW84088;EAW84089;EAW84090;NP_001034221;NP_001535;NP_071772;Q14773 Hs.706750 1678679;1700016;1768405;1791864;1796040;2123661;2157173;2170918;2186679;5022651 D11S2921;D19S1031;D19S1169;ICAM4_1000;PMC128235P2;RH103620;RH39081;RH78910;SGC35328;STS-L27670 CD242;LW CD242 antigen;ICAM-4;LW blood group protein;Landsteiner-Wiener blood group antigen a;Landsteiner-Wiener blood group glycoprotein;intercellular adhesion molecule 4;intercellular adhesion molecule 4 (LW blood group);intercellular adhesion molecule 4, landsteiner-wiener blood group APPROVED protein-coding ENSG00000105371 5347 00198 111250;614088 REVIEWED 1349998 ID2B inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene) 3 3 3 p14.2 62126231 62127465 - 62084054 62085426 - 62109097 62110392 - 1580863;6480464 8224921;23319000 84099 Q14602 ABBA01024331;AC104849;AMYH01013241;M96843;NG_000937 AAA16865 Hs.591670 1681939;1730765;2139292;2181391 D2S208E;D3S4003;RH11441;RH67912 pseudo 30656 INFERRED 1603405 ICMT isoprenylcysteine carboxyl methyltransferase This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008] 1 1 p36.21 6203840 6218631 - 6281253 6296044 - 6480464 10441503;9614111;19161160;19158273;17347446;15489334;15146197;14966563;14702039;12750467;12631708;12477932;12006387;11906819;10649571;10412982;19651782;19841875;20798596;21890473;19322201 23463 K7EQW0;O60725;Q7Z750 ABBA01035439;AF064084;AF173157;AK092890;AL031847;AL117548;AL564343;AMYH01000210;BC017037;BC028168;BU616418;CH471130;CN343480;CR541671;CR541711;NM_012405 AAC16554;AAF89831;AAH28168;BAG52623;CAG46472;CAG46512;EAW71522;EAW71523;NP_036537;O60725 Hs.515688 1337251;1775028;1779240;2109423;2132325;2183039;5015619;5015861;5015961;5016596;5037552;7185938 D10S16;D11S3114;D15S1477;D1S2870;D8S2279;GDB:631802;ICMT_9351;RH64691;SHGC-152961;SHGC-74066;SHGC-74149 HSTE14;MGC39955;MST098;MSTP098;PCCMT;PCMT;PPMT OTTHUMP00000001381;prenylated protein carboxyl methyltransferase;prenylcysteine carboxyl methyltransferase;protein-S isoprenylcysteine O-methyltransferase;protein-S-isoprenylcysteine O-methyltransferase APPROVED protein-coding ENSG00000116237 5350 09321 605851 REVIEWED 1344621 ICOS inducible T-cell co-stimulator The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008] 2 2 q33 204509748 204534545 + 204801471 204826300 + 1624274;1624268;1624276;1624269;1624275;1580863;6480464;6907045;7240710 14731127;17060381;12421962;16601981;12829180 9930702;19380800;19376499;19376178;19333938;19332044;19265111;19247692;19222422;19202444;19194830;19175887;19095735;19020530;18973208;18641334;18396212;18337305;18292519;18174230;18172933;18051214;17481737;17414714;17323353;17242332;17197413;17077177;16996590;16790364;16670305;16638702;16563187;16512757;16237465;16112024;16081771;16005527;15953005;15941568;15699127;15657618;15629449;15507387;15489334;15339883;15265908;15100277;14988837;14610488;14550257;12919091;12864987;12784384;12753665;12577056;12477932;12207353;12195015;12456021;11956294;11904679;11771526;11735222;11169414;11104797;11023515;11006126;10964520;10779774;10657606;10617205;21160481;21479882;20596022;12538664;19547759;19672595;19824886;19913589;19931508;19959217;20113255;20190752;20237496;20331378;20435510;20453000;20817864;17207965;21084022;20207847;20980695;20019769;20388394;21356099;21677403;21288140;21499231;21526489;21765024;21669243;21926547;23275603;21917182;20412057;22577174;22579879;20301476;23053221;23251661;22491736;21988832;23024058 29851 Q53QY6;Q9Y6W8 AB023135;ABBA01062620;ABBA01062621;AC009965;AC103880;AF411058;AF411059;AF488347;AJ277832;AJ535718;AK314985;AMYH01011419;BC028006;BC028210;CB528580;CH471063;CS008892;CS008894;EF064727;GN093455;HH957989;HI574348;NG_011586;NM_012092 AAH28006;AAH28210;AAL40933;AAL40934;AAM00909;AAX93073;ABK41910;ADQ32686;BAA82129;BAG37484;CAC06612;CAD59742;CAI53650;CAI53651;CAX87085;CBX47663;CBX51258;EAW70355;EAW70356;EAW70357;NP_036224;Q9Y6W8 Hs.56247 1700682;1728815;1728843 G54506;G54507;RH103964 AILIM;CD278;CVID1;MGC39850 OTTHUMP00000163785;OTTHUMP00000208080;activation-inducible lymphocyte immunomediatory molecule;inducible T-cell costimulator;inducible costimulator APPROVED protein-coding ENSG00000163600 5351 09196 604558;607594 REVIEWED 1348687 IDDM10 insulin-dependent diabetes mellitus 10 734541;7240710 9215668 3409 1337452;1341283;7187018;7187427;7187940 D10S193;D10S197;D10S220;D10S582 5364 601942;606367 1354194 IDDM11 insulin-dependent diabetes mellitus 11 7240710 8617492 3410 1337934;1341752;7186423 D14S67;D14S70 5365 1344899 IDDM12 insulin-dependent diabetes mellitus 12 7240710 8817351 3411 5366 140300;601388;609755 1347272 IDDM13 insulin-dependent diabetes mellitus 13 7240710 8650584 3412 5367 1350047 IDDM14 insulin-dependent diabetes mellitus 14 3413 5368 1348722 IDDM15 insulin-dependent diabetes mellitus 15 7240710 8981961 3414 7186757 D6S283 5369 1352929 IDDM16 insulin-dependent diabetes mellitus 16 3415 5370 1353800 IDDM17 insulin-dependent diabetes mellitus 17 734512;7240710 9788970 8691 1340126;7184015 D10S217 5371 1345918 IDDM18 insulin-dependent diabetes mellitus 18 7240710 57044 5372 1346720 IDDM2 insulin-dependent diabetes mellitus 2 7240710 1944595 3401 1334892;1336452;7185697 D11S1313;D11S903;D11S922 5373 125852;606176;613370 1349326 IDDM3 insulin-dependent diabetes mellitus 3 7240710 7842018 3402 1338475 D15S107 5374 1351919 IDDM4 insulin-dependent diabetes mellitus 4 7240710 7842018;8072542 3403 1298162;1337267;1338714;1341457;2133287;7183805;7186147 D11S1296;D11S1321;D11S911;D11S916;D11S937;PYGM 5375 1348820 IDDM5 insulin-dependent diabetes mellitus 5 7240710 8072542 3404 5376 600320 1351545 IDDM6 insulin-dependent diabetes mellitus 6 1298359;7240710 9215667 3405 1340272;1341413 D18S39;D18S64 5377 1345102 IDDM7 insulin-dependent diabetes mellitus 7 7240710 7813807 3406 1338110 D2S152 5378 1347496 IDDM8 insulin-dependent diabetes mellitus 8 7240710 7573053 3407 7183786 D6S281 5379 1350561 IDDM9 insulin-dependent diabetes mellitus 9 3408 5380 1354040 ICOSLG inducible T-cell co-stimulator ligand 21 21 q22.3 44471149 44485262 - 45646721 45660834 - 6480464 21530327;21102463;11429535;11983910;12145647;19347721;19202444;18587394;18294651;17242332;16951355;16335952;16221208;16115907;15489334;15131796;15047568;14702039;14603470;12960306;12800259;12707012;12477932;12456022;11956294;11390480;11023515;11007762;10779774;10657606;9734811;19913121;20628086;20677014;17207965;19760754;21072187;19395451;19726311;19737469;20176734;20190752;20217071;21098714;21297633;22706735;22577174;23026134;23024058;23128233 23308 A0N0L8;A8MUZ1;K4DIA0;O75144 AB014553;ABBA01074156;ABBA01074157;AF199028;AF216749;AF289028;AI659611;AK090492;AK290192;AK294031;AK311496;AK314369;AK316143;AK316176;AL355690;AMYH01012288;AP001058;AP001059;AX100595;BC064637;CH471079;EF064726;GN093450;NM_015259 AAF34739;AAG01176;AAH64637;AAK16241;ABK41909;ADQ32610;BAA31628;BAF82881;BAG36999;BAG52170;BAH11654;BAH14514;BAH14547;CAC36465;CAX87084;EAX09446;EAX09447;EAX09448;NP_056074;O75144 Hs.14155 2181953;2182838;2183705 RH12408;SHGC-52125;SHGC-87685 B7-H2;B7H2;B7RP-1;B7RP1;CD275;GL50;ICOS-L;ICOSL;KIAA0653;LICOS B7 homolog 2;B7 homologue 2;B7-like protein Gl50;B7-related protein 1;ICOS ligand;OTTHUMP00000109524;OTTHUMP00000109525;OTTHUMP00000109526;OTTHUMP00000109527;transmembrane protein B7-H2 ICOS ligand protein-coding 17087 05757 605717 VALIDATED 1317429 ICT1 immature colon carcinoma transcript 1 The adult colon epithelium contains 3 differentiated cell types that arise from a multipotent stem cell. Deviation from the normal maturation pathway by neoplastic transformation is thought to initiate in stem cells or their early descendants. One potential marker is ICT1 whose mRNA and protein were more highly expressed in undifferentiated than in differentiated cells. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 69602026 69610605 + 70520375 70528951 + 73008780 73017356 + 1580863;6480464 15489334;12477932;8575443;8125298;7545548;22623531;20598281;20186120;20877624;21832049;22939629 3396 J3KS15;J3QRF8;Q14197 ABBA01028819;ABBA01028820;AC087651;AK222553;AK314138;AMYH01008629;BC015335;BT007111;CH471099;NM_001545;X81788 AAH15335;AAP35775;ABM81581;ABM84760;BAD96273;BAG36828;CAA57387;EAW89227;NP_001536;Q14197 Hs.407955 1681959;1850565;2108161 ICT1_8414;RH79169;RH79935 DS-1;DS1 digestion substraction 1;immature colon carcinoma transcript 1 protein;peptidyl-tRNA hydrolase ICT1, mitochondrial APPROVED protein-coding ENSG00000167862 5359 04299 603000 REVIEWED 5688834 IDH1-AS1 IDH1 antisense RNA 1 2 209119957 209120918 + 100507475 ABBA01062707;AC016697;AI783767;AMYH01011452;BJ994720;NG_023319;NR_046452 Hs.668038 APPROVED miscrna ENSG00000231908 40292 VALIDATED 736819 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q11 29656753 29657974 + 30193086 30194318 + 1580863;6480464;6484113;6907045 15138269;15694377;17855368;17891176;14522471;19491902;19453261;19330020;19288008;19217708;19201527;19079362;19079342;19014499;19002177;18922905;18842581;18752043;18674781;18648363;18583319;18559972;18556654;18436795;18413773;18372912;18353975;18240291;18202790;18158619;18072288;18000500;17916352;17599389;17565736;17537403;17426247;17202424;17145808;17102133;17072841;16894355;16682435;16552541;16525633;16506209;16469432;16287090;16271072;16189525;16123120;16115231;16029118;16007194;16002046;15905202;15877825;15744343;15701714;15645115;15579766;15575081;15494533;15489884;15489334;15370294;15322112;15163661;15064751;15041724;15026801;14755252;14742319;14690332;14688027;12949053;12947323;12881706;12823438;12787042;12719589;12718878;12576450;12547711;12477932;12296825;12203366;12020803;12016143;11940648;11896613;11780052;11756408;11729207;11591653;11234019;11085505;10419887;10022839;9242638;9235903;9070860;8586447;8294468;8086456;7637581;15361847;15029197;12145280;9528857;8380166;9584154;16341674;16344560;21536374;22393458;22278018;22354994;22379092;20484992;20574154;19031736;19423615;19438642;19515385;19551863;19567783;19571317;19643984;19644139;19710505;19843640;19906510;19926394;20003244;20010941;20070914;20195544;20388787;20515335;20522807;18542061;20186495;19951400;19766362;20211142;20887552;16556596;19125693;20697353;20191379;20881502;21106423;21106425;21506108;21921784;21933340;20080245;20863724;21467165;21486943;22819717;23311395;21896993;20709421;21606196;21701587;21993163;21670698;21732357;21630092;21921026;21955753;21906983;22139627;21688151;22301282;22480390;22698403;22076920;22592405;23377983;23645773;23060149;21963094;21988832;23243024;22580608;23308043;23455924 3397 Q5TE67 ABBA01019302;AI304595;AK291152;AK313786;AL110115;AL117381;AMYH01011830;BC000613;BC012420;BG546814;BI768231;BM856018;BT007443;CH471077;D13889;D13890;DA839689;NG_029639;NM_002165;NM_181353;S78825;S78986;U57645;X77956 AAB35037;AAB35038;AAC13882;AAC13883;AAH00613;AAH12420;AAP36111;ABM82219;ABM84268;ABM85403;ABM87656;ABW03609;ABW03909;ABW03919;BAA02988;BAA02989;BAF83841;CAA54920;EAW76432;EAW76433;EAW76434;NP_002156;NP_851998;P41134 Hs.504609 1792656;1793442;2177493 PMC156147P2;PMC22262P1;WI-9304 ID;bHLHb24 DNA-binding protein inhibitor ID-1;OTTHUMP00000030534;OTTHUMP00000030535;class B basic helix-loop-helix protein 24;dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein);inhibitor of differentiation 1;inhibitor of dna binding 1, helix-loop-helix protein (splice variation) APPROVED protein-coding ENSG00000125968 5360 08980 600349 REVIEWED 732001 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011] 2 2 p25 8739564 8742034 + 8822113 8824583 + 1580863;619536;6480464;6484113;6907045 11706002 10915743;15249128;14627819;1741406;19330020;19321746;19269192;19260835;19257909;19129913;19099554;19043732;19010462;18806828;18490653;18436795;18281534;18085637;18000500;17631285;17630394;17431671;16877363;16810178;16705184;16682435;16549780;16311606;16223775;16169070;15744343;15701714;15691830;15645115;15489334;15252039;15041724;14733935;14612502;14582708;12878164;12824180;12670915;12657241;12598895;12545167;12527902;12483209;12477932;12447693;11940648;11782392;11756408;11591653;11560778;11301021;11134340;11034201;10891368;10585876;10502414;10067894;10022839;9242638;9029153;8649364;8586447;8294468;8224921;8125298;7926730;9584154;8576241;22745378;20628624;16556596;17274640;19180920;19368689;19417068;19423615;19453261;19733838;19950294;20388805;20483740;20565746;20876741;16776654;20861012;18029348;21478550;20512523;21608079;22354994;23399020;22551584;18624398;20972266;21925315;22075330;22253220;21927809;22380883;21988832;23119064;23143248;22580608;9372912;14752053;23645773 3398 Q02363;Q53T66 ABBA01015571;AC011747;AK222682;AK311988;AMYH01010090;AY634687;BC030639;BE222494;CH471053;D13891;M97796;NM_002166 AAA58681;AAH30639;AAV35470;AAY14810;ABM81784;ABM84939;BAA02990;BAD96402;BAG34927;EAX01018;EAX01019;NP_002157;Q02363 Hs.180919;Hs.726053 1681939;1691086;1730765;1797722;2139292;2181391 D2S208E;D3S4003;ID2_2310;RH11441;RH25021;RH67912 GIG8;ID2A;ID2H;MGC26389;bHLHb26 DNA-binding protein inhibitor ID-2;DNA-binding protein inhibitor ID2;OTTHUMP00000140258;OTTHUMP00000200297;cell growth-inhibiting gene 8;class B basic helix-loop-helix protein 26;helix-loop-helix protein ID2;inhibitor of differentiation 2 APPROVED protein-coding ENSG00000115738 5361 02664 600386 REVIEWED 734069 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011] 1 1 p36.13-p36.12 23756996 23758909 - 23884421 23886285 - 1580863;6480464;6907045 8437843;1628620;14627819;19054058;18477564;18374504;18281048;17537403;16710414;16682435;16449966;16271072;15645115;15583422;15494533;15489334;15370294;15342556;12952978;12547711;12477932;12054881;11940648;11756408;11591653;10593873;10585876;10022839;9821964;9525934;9372912;9242638;8999959;8804437;8798572;8759016;8645731;8632670;7828896;7821789;7777541;19477940;19515385;19948975;20185798;16556596;20211142;20191379;21191065;20512523;20080245;21030215;18255255;23143595;22882857;21486943;23311395;21975932;21498546;21933340;21987572;22151756;21993163;21837949;22354994;15451666;22698403;21963094;23119064;23060149;22505724 3399 Q02535 A17546;A17548;ABBA01059876;ABBA01059877;AK290003;AL021154;AMYH01000360;BC003107;BM921819;BP193075;BT006791;CH471134;D28449;NM_002167;X66924;X69111;X73428 AAH03107;AAP35437;ABM83430;ABM86465;ABM86643;BAA05815;BAF82692;CAA01342;CAA01343;CAA47360;CAA48862;CAA51827;EAW95060;EAW95061;NP_002158;Q02535 Hs.76884 1666678;1745767;1791974;2162709;2191723;2217464;5019024 G42964;GDB:636098;ID3_2919;MARC_5735-5736:996690763:1;PMC133998P6;RH70878;SHGC-74405 HEIR-1;bHLHb25 DNA-binding protein inhibitor ID-3;ID-like protein inhibitor HLH 1R21;OTTHUMP00000003263;class B basic helix-loop-helix protein 25;helix-loop-helix protein HEIR-1 APPROVED protein-coding ENSG00000117318 5362 02608 600277 REVIEWED 736051 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein This gene encodes a member of the inhibitor of DNA binding (ID) protein family. These proteins are basic helix-loop-helix transcription factors which can act as tumor suppressors but lack DNA binding activity. Consequently, the activity of the encoded protein depends on the protein binding partner. [provided by RefSeq, Dec 2011] 6 6 p22.3 19945596 19948894 + 19837601 19842431 + 1580863;6480464;6907045 17474147;7665172;11136250;19543515;18807039;18676808;18575765;18513385;17940204;17510533;16682435;15876350;15723065;15569977;15489334;14633621;14574404;14534543;12969807;12477932;11756408;9872455;9418957;8759016;18928580;18088456;18426657;18549611;19783986;19853913;20201924;20339536;21098398;21531766;22538771;19099656;19549375;21176338;21729527;21129259;21663940;22380883;22479372;21882048;22354994;20881960;23132729;23472165;22169289 3400 P47928 ABBA01022246;AI692586;AJ420553;AK130851;AL022726;AMYH01016132;BC014941;CH471087;DB461864;NM_001546;U16153;U28368;Y07958 AAA73923;AAA82882;AAH14941;CAA69255;EAW55416;NP_001537;P47928 Hs.519601;Hs.663469 1680649;1797724;2124976;2141544;2146228;2163301;2173285;5123957;5492133 A007A41;AL020973;D6S1228E;ID4_2076;Idb4;RH46626;RH91195;WI-13751;WI-7424 IDB4;bHLHb27 DNA-binding protein inhibitor ID-4;OTTHUMP00000016081;class B basic helix-loop-helix protein 27 APPROVED protein-coding 5363 08995 600581 VALIDATED 732801 IDE insulin-degrading enzyme This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009] 10 10 q23-q25 94203580 94323832 - 94211441 94333852 - 737718;737717;1580863;1626696;1626697;1626698;6480464;6907045 12634421;10958757;17192720;12765971;16380485 20033747;2293021;3059494;9830016;8425612;19453261;19383491;19321446;19239107;19228808;19139842;19082521;18996360;18986166;18984664;18977241;18813847;18783335;18719881;18633108;18621727;18618095;18591388;18448515;18426861;18411275;18226493;18212765;17971426;17964527;17953957;17913278;17827400;17804762;17601350;17579348;17496198;17463249;17293876;17244626;17192785;17143514;17055432;17051221;16914266;16876916;16675064;16574064;16511862;16344560;15911128;15858821;15858813;15850385;15718037;15590928;15489232;15285718;15277615;15277398;15181249;15088150;15024728;14764804;14755451;14702039;14517947;12850277;12746301;12716770;12507914;12477932;12161276;11809755;11145591;10684867;9070242;8077210;8051160;7731996;6401723;1743072;1733942;1607078;758022;19913121;20628086;20724036;20581827;20364150;20703447;16385451;17613531;17715127;19053027;19396426;19592050;19592620;19602701;19606063;19622614;19741166;19785409;19794065;19808678;19808892;19809796;19862325;19864391;19864659;19889475;19896952;19933996;20082125;20098734;20161779;20203524;20362553;20380468;20384434;20460429;20490451;20816152;20877624;20880607;20927120;20663017;19019493;20971110;23036584;21185309;21731745;21800051;21098034;22863883;22502914;20178365;21343292;23525105;20360068;21873424;21903422;21992747;22107728;21139048;21890473;21906983;22837378;22036964;22267728;9231799;21232820;21963094;23000965;22053931 3416 P14735;Q5T5N3;R4GN65 AB209204;ABBA01021902;ABBA01021903;ABBA01021904;ABBA01021905;ABBA01021906;AK093287;AK302578;AK312810;AK316407;AL356128;AMYH01002948;AMYH01002949;BC036188;BC096336;BC096337;BC096338;BC096339;BX648462;CF780766;CH471066;CK824565;DA643304;DA879845;DB204538;DB219527;DB445060;HB485919;M21188;NG_013012;NM_001165946;NM_004969 AAA52712;AAH96336;AAH96337;AAH96339;BAD92441;BAG35668;BAG52680;BAH13752;BAH14778;CBA13324;EAW50090;EAW50091;EAW50092;EAW50093;NP_001159418;NP_004960;P14735 Hs.500546 1690624;1742241;1774334;1854649;2122762;2138860;2170333;5017477 D10S2141;GDB:193867;IDE;RH44800;RH80115;STS-D29519;STS-T88914;WI-17525 FLJ35968;INSULYSIN Abeta-degrading protease;OTTHUMP00000020097;insulin degrading enzyme;insulin protease;insulin-degrading enzyme;insulinase 2314830 INSUL25_H APPROVED protein-coding ENSG00000119912 5381 00894 146680 REVIEWED 737145 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. [provided by RefSeq, Jul 2008] 2 2 q33.3 208809198 208828051 - 209100953 209119806 - 1300048;1580863;1626475;6480464;6907045;7240710 14969338 20171147;22074484;9866202;19636000;19554337;19543740;19469031;19411854;19378339;19359588;19351817;19340432;19246647;19228619;19117336;18985363;18772396;16751257;16381901;16236267;15936593;15489336;15489334;15173171;12923220;12477932;11256614;11230166;11076863;10521434;7551812;4422176;4388365;3861566;16169070;22904127;21996744;22217666;21289278;21356389;20131059;20560678;20567020;20603105;20625116;20634891;20651067;20659156;20667415;20678218;20702649;20805365;19350208;19435942;19657110;19667985;19755387;19765000;19805672;19915015;19915484;19933982;19935646;20097881;20129251;20133500;20160062;20171178;20227112;20367200;20368538;20368543;20376084;20376086;20410924;20427748;20494930;20508616;20538800;19903171;23115158;23192014;23223340;23264629;21130701;21173122;20975057;16756494;20077503;20459648;20485375;20127344;20465388;20661018;20473936;20615753;20692206;21083371;20142433;20510884;20514489;20174854;20877624;20880116;20946881;20962861;21075857;21079611;21080178;21088844;21045145;21233841;20534697;20944672;20972461;20975740;22322613;22809434;22939629;22968464;21343879;21301070;21307773;20725730;21069360;21181477;21225914;21177338;21326241;21383741;21079649;21163902;22863883;23038259;23074281;22432788;22772731;23063752;21867611;22785212;22922872;21575384;21707716;21569770;21284999;21346257;21690245;21326614;23035067;21539821;23330999;20874727;21437454;21294161;21598255;22057234;22057236;22072542;21912393;21997850;22002076;22033490;22034964;22166653;21904853;21755347;21506885;21845536;21625441;21316759;21647154;21955925;21314850;21647152;21874255;21885076;21910919;21873548;22172803;21784755;21983902;16396496;21929658;22270848;22326863;17623298;21516462;21643842;22199315;22180306;22291938;23071358;23232569;23558169;21139048;21643985;21717448;21890473;21906983;22052461;22076165;22101433;22192702;21898821;22025298;22427879;22683334;23079654;19322201;22197544;22238332;22238333;21922591;22397365;23236540;22360810;22385606;22392125;22415316;22520341;22144470;22147457;22106302;22136423;22281465;22343889;22343901;21481010;22015945;22064513;22264756;22020636;22899282;22323113;22360629;22790483;22945896;23015095;23111198;23184331;21319273;22396072;22396073;22410704;22763442;20178365;22772980;22929312;19805454;21963094;22113362;22890969;23000965;22868530;23204232;23135354;23598960;22616558;21781445;22885298;22922798;22399191;22503487;22528790;22687971;22688054;22748659;22844452;22917530;22445362;22781348;22869205;23365461 3417 C9J4N6;C9JJE5;C9JLU6;O75874;Q6FHQ6 ABBA01062707;AC016697;AF020038;AF113917;AF197566;AK302105;AK312242;AL136702;AMYH01011452;BC012846;BC021046;BC093020;BX537411;CH471063;CR533522;CR536499;CR541695;DQ403082;NG_023319;NM_005896;U62389 AAB17375;AAD02918;AAD29284;AAG43470;AAH12846;AAH93020;AAX93221;ABD77215;ABM82361;ABW03396;BAG35175;BAG63486;CAB66637;CAD97653;CAG38553;CAG38738;CAG46496;CAL37462;CAL37490;CAL38069;EAW70439;EAW70440;EAW70441;EAW70442;NP_005887;O75874 Hs.593422 1648600;1663618;1684650;1689678;1694830;1848139;2134095;2156491;2217466 G30308;G43665;IDH1_3388;RH41922;RH47131;RH68077;RH81021;SHGC-2545;SHGC-37075 IDCD;IDH;IDP;IDPC;PICD NADP(+)-specific ICDH;NADP+-specific ICDH;NADP-dependent isocitrate dehydrogenase, cytosolic;NADP-dependent isocitrate dehydrogenase, peroxisomal;OTTHUMP00000163870;OTTHUMP00000206464;OTTHUMP00000206466;cytosolic NADP-isocitrate dehydrogenase;isocitrate dehydrogenase 1;isocitrate dehydrogenase [NADP] cytoplasmic;oxalosuccinate decarboxylase APPROVED protein-coding ENSG00000138413 5382 00984 137800;147700 REVIEWED 1313391 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. [provided by RefSeq, Jul 2008] 15 15 q26.1 88428214 88446712 - 90627210 90645708 - 1580863;6480464;6907045;7240710 21289278;20171147;22166653;8954790;19228619;18484410;18096511;17854715;16396496;15489334;12665801;12477932;8707889;8125298;3363531;970033;965003;752528;564083;11969;20485375;20131059;20567020;20603105;20625116;20659156;20678218;20465388;20847235;20975057;21173122;18029348;19350208;19469031;19530255;19554337;19667985;19765000;19915015;19915484;19933982;20160062;20367200;20368543;20376084;20410924;20421455;20427748;20494930;20508616;20538800;20692206;20861910;21130701;20142433;20510884;20877624;20880116;20929327;20946881;20962861;21075857;21079611;21080178;21233841;20962862;20972461;21454467;20713124;21225914;20929316;21307773;21383741;22494415;23038259;23074281;21867611;22922872;22929312;22057234;22057236;22072542;21284999;21346257;21504050;16335966;21326614;21294161;21596855;21598255;21690245;21647152;21625441;21889589;21647154;21874255;21885076;22270848;21996744;22217666;21139048;21643985;21890473;21643842;21741430;23071358;23232569;22427879;22683334;22180306;22106302;22136423;22343901;22397365;22416140;22360810;22385606;22415316;22520341;22147457;22215888;21904853;21997850;22002076;22033490;22034964;22020636;21319273;22410704;23330999;23752268;19805454;21988832;22890969;23115158;23192014;23264629;23135354;23598960;22616558;22323113;22360629;22790483;23015095;23111198;23365461;22399191;22503487;22505724;22687971;22917530 3418 B4DFL2;B4DSZ6;H0YL11;H0YLL5;P48735 ABBA01053039;AC087284;AC092769;AK222916;AK294148;AK299987;AK312627;AK316388;AMYH01006921;BC009244;BC071828;CH471101;HC895649;HC898572;NG_023302;NM_002168;X69433 AAH09244;AAH71828;ABM83743;ABM87062;BAD96636;BAG35513;BAG57473;BAG61808;BAH14759;CAA49208;CBN62262;CBN63691;EAX02082;EAX02083;NP_002159;P48735 Hs.596461 1854065;2108163;2146551;5093402 A009O05;G32697;IDH2_7805;STS-X69433 D2HGA2;ICD-M;IDH;IDHM;IDP;IDPM;mNADP-IDH NADP(+)-specific ICDH;NADP+-specific ICDH;OTTHUMP00000194691;isocitrate dehydrogenase [NADP], mitochondrial;isocitrate dehydrogenase, mitochondrial;oxalosuccinate decarboxylase APPROVED protein-coding 5383 00973 147650;613657 REVIEWED 731354 IDH3G isocitrate dehydrogenase 3 (NAD+) gamma Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008] X X X q28 153284902 153293648 - 152704415 152713161 - 153051221 153059978 - 1302383;1580863;2306828;6480464;6907045 9286695;938457 14555658;18029348;17432878;16737955;16381901;15489336;15489334;12477932;11256614;11076863;10677231;10601238;8661155;22939629;11181995;17314511 3421 E7EQB8;E9PF84;G5E9Q7;H0Y5Q7;H7C1R3;H7C1W2;O15384;P51553 AB209206;ABBA01045357;AMYH01023301;BC000933;BC001902;BI831096;CH471172;NM_004135;NM_174869;U40272;U52111;U69268;U69269;Z68129;Z68907 AAB70115;AAB70116;AAD09357;AAH00933;AAH01902;BAD92443;CAA92214;CAA93143;CAL38011;CAL38125;EAW72792;EAW72793;EAW72794;EAW72796;EAW72797;EAW72798;EAW72799;EAW72800;EAW72801;EAW72802;EAW72803;EAW72804;EAW72806;NP_004126;NP_777358;P51553 Hs.410197 1665020;1676890;1688084;1856694;2109897;5094504 DXS7064;G54852;RH12600;RH92620;RH92840;STK23_9495 H-IDHG IDH-gamma;NAD (H)-specific isocitrate dehydrogenase gamma subunit;NAD(+)-specific ICDH subunit gamma;NAD+-specific ICDH;OTTHUMP00000025984;OTTHUMP00000025985;OTTHUMP00000025987;OTTHUMP00000025988;OTTHUMP00000214764;isocitrate dehydrogenase 3, gamma;isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial;isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit;isocitric dehydrogenase subunit gamma APPROVED protein-coding ENSG00000067829 5386 02100 300089 REVIEWED 1349945 IDH3B isocitrate dehydrogenase 3 (NAD+) beta Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 20 20 p13 2587041 2592843 - 2639041 2644865 - 1580863;2306828;6480464;6907045 938457 10601238;14555658;19498431;18806796;17432878;16737955;16713569;15653693;15489334;14702039;12477932;11780052;10677231;10575215;20435888;16169070;20877624;17314511;17567985;22678362;18457437;21139048;21890473;21900206;21906983;20301590 3420 Q9NUZ0 ABBA01053795;AF046929;AK001905;AK300485;AK309488;AK315641;AL049712;AL050094;AMYH01011668;BC001960;BC019037;BG745042;BP872064;BX647393;CH471133;NG_012149;NM_001258384;NM_006899;NM_174855 AAF20164;AAH01960;ABM83487;ABM86702;ABM86742;ACE86681;ACE87365;BAA91971;BAG38008;BAG62200;CAB43266;EAX10578;EAX10579;EAX10580;EAX10581;EAX10582;EAX10583;NP_001245313;NP_008830;NP_777280;O43837 Hs.436405 1340408;1712230;1769739;1852929;1853230;2108315;2169998;2191539;2217468;5014518;5091321;5091701 D20S1022;D20S198;D20S559E;G54023;IDH3B_3390;MARC_26128-26129:1030370563:1;NOL5A_7975;RH74;RH78034;RH78746;SGC32750;WI-16193 FLJ11043;H-IDHB;MGC903;RP46 NAD(+)-specific ICDH subunit beta;NAD+-specific ICDH;NAD+-specific isocitrate dehydrogenase b subunit;NAD+-specific isocitrate dehydrogenase beta;OTTHUMP00000030023;OTTHUMP00000030024;isocitrate dehydrogenase [NAD] subunit beta, mitochondrial;isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit;isocitric dehydrogenase subunit beta APPROVED protein-coding ENSG00000101365 5385 05163 604526;612572 REVIEWED 735459 IDI1 isopentenyl-diphosphate delta isomerase 1 IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1036251 1044473 - 1075963 1085061 - 1085963 1095061 - 1580863;1300048;2316857;6480464;6907045 16876788 8020941;8806705;8188698;18660489;16806233;15489334;14629038;12860252;12477932;8125298;20877624;20955688;17202134;17250851;22990118;21139048;21890473;21906983;21987572;17180682 3422 C9JD53;C9JKM8;Q13907 ABBA01035260;AC022536;AF271720;AF271724;AF291755;AK222875;AK303669;AK311110;AMYH01001976;BC005247;BC006999;BC019227;BC022418;BC025375;BC057827;BC107893;BE891119;BT006761;BX537663;BX648472;CH471072;NM_004508;X17025 AAH05247;AAH06999;AAH19227;AAH22418;AAH25375;AAH57827;AAI07894;AAK29357;AAK49434;AAK49435;AAP35407;BAD96595;BAG64667;CAA34890;EAW86520;EAW86521;NP_004499;Q13907 Hs.743977 1662005;1663115;1664154;1665115;2119759;2130108;2144720;2174631;2184317;2217470 D10S1346E;D10S1857;D10S2193;IDI1_3392;RH18092;RH68721;RH79159;SHGC-31614;WI-17935;WIAF-2199 IPP1;IPPI1 IPP isomerase 1;OTTHUMP00000018949;OTTHUMP00000018951;isopentenyl diphosphate dimethylallyl diphosphate isomerase 1;isopentenyl pyrophosphate isomerase 1;isopentenyl-diphosphate Delta-isomerase 1;isopentenyl-diphosphate delta isomerase APPROVED protein-coding ENSG00000067064 5387 07235 604055 VALIDATED 1317828 IDI2 isopentenyl-diphosphate delta isomerase 2 10 10 10 p15.3 1015125 1022085 - 1054847 1061799 - 1064847 1071799 - 737633;1580863;6480464;6907045 12477932 8806705;17202134;15489334;14702039;14629038;16385451;20955688;17207965;16147992 91734 Q9BXS1 ABBA01035260;AC022536;AF271725;AF271729;AF291755;AK056950;AMYH01001976;BC017778;BC040651;CH471072;NM_033261 AAH17778;AAK29358;AAK49436;AAK49437;ADQ32277;BAB71322;EAW86525;NP_150286;Q9BXS1 Hs.591325;Hs.9270 1682902;1689847;1735992;2123868;2185476;2217472;5015404;5015619;5015961;5016478;5021872;5022200;5022463;5037552 D10S1280E;D11S3114;D15S1477;D3S1673;D8S2279;GDB:434012;IDI2_3634;L17705;L18426;RH44779;RH65829;RH76789;RH98338;sY3084 IPPI2 IPP isomerase 2;OTTHUMP00000018952;diphosphate dimethylallyl diphosphate isomerase 2;isopentenyl pyrophosphate isomerase 2;isopentenyl-diphosphate Delta-isomerase 2 protein-coding ENSG00000148377 23487 17127 PROVISIONAL 1347874 IDSP1 iduronate 2-sulfatase pseudogene 1 X X q27.3-q28 148415837 148417461 + 148606539 148607956 + 7814022;7633410 3424 ABBA01049650;AC233288;AC244197;AF011889;AMYH01023193;L36846;NG_001149 1702672;1745649;2172413;2174667;2190863;5019723 A009K15;G32610;GDB:511278;GDB:629998;PMC311008P2;SHGC-36230 IDS2 pseudo 5390 INFERRED 733177 IDH3A isocitrate dehydrogenase 3 (NAD+) alpha Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008] 15 15 q25.1-q25.2 76228774 76249939 + 78441719 78462884 + 1580863;2306828;6480464;6907045 938457 8833160;14555658;17432878;16737955;16236267;15489334;14702039;12543931;12488461;12477932;10677231;10601238;8125298;7755589;19615732;20306291;20562859;20877624;12601813;20811636;22939629;17314511;18029348;18457437;21139048;21890473;21906983;22190034 3419 B7Z9J8;H0YKD0;H0YL05;H0YL72;H0YLF8;H0YLI6;H0YM46;H0YM64;H0YMU3;H0YMY5;H0YNF5;H0YNF8;P50213;Q68D72 ABBA01060579;AC090260;AK093531;AK222973;AK296002;AK299970;AK315963;AK316051;AL110096;AL442090;AMYH01006831;BC021967;BC036227;CH471136;CR749548;NM_005530;U07681 AAA85639;AAH21967;ABM83700;ABM84455;ABM87021;BAD96693;BAG58776;BAG61796;BAH14334;BAH14422;CAC09449;CAH18348;EAW99181;EAW99182;NP_005521;P50213 Hs.591110 1679974;1767799;1848938 D15S1087;RH64913;STS-U07681 H-IDH alpha;NAD(+)-specific ICDH subunit alpha;NAD(H)-specific isocitrate dehydrogenase alpha subunit;NAD+-specific ICDH;OTTHUMP00000184906;isocitrate dehydrogenase (NAD+) alpha chain;isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial;isocitric dehydrogenase subunit alpha APPROVED protein-coding 5384 03094 601149 REVIEWED 1353147 IDI2-AS1 IDI2 antisense RNA 1 10 10 10 p15.3 1018855 1040431 + 1058613 1080135 + 1068577 1090141 + 6480464 12477932;10931946;22566498 55853 Q9BXS2;Q9NZ38 ABBA01035260;AC022536;AF220183;AF291755;AK314921;AMYH01001976;BC018729;BC050694;BC104155;BC104156;BC112975;BC112976;BF724542;CH471072;NR_024628;NR_024629;NR_027708;NR_027709 AAF67648;AAK29359;EAW86522;EAW86523;EAW86524;Q9NZ38 Hs.728538 1662005;1663115;1664154;1735992;2130108;2144720;2174631;2217470 D10S1280E;IDI1_3392;RH18092;RH68721;RH79159;SHGC-31614;WI-17935;WIAF-2199 C10orf110;HT009;IDI2-AS APPROVED miscrna ENSG00000232656 30885 12561 VALIDATED 1347065 IDNK idnK, gluconokinase homolog (E. coli) 9 9 9 q21.32 56808060 56829073 + 85427786 85448858 + 86237964 86259045 + 6480464 12477932;18029348;16712791;23067238 414328 E9PP74;E9PP88;F8W7J0;Q5T6J7;Q5T6J8 ABBA01034001;AF086281;AL354920;AMYH01021459;AY615889;BC036421;BC045782;BC142991;CA866332;CB151823;CH471089;DB496275;NM_001001551;NM_001256915;NR_046421;NR_046422;W69675 AAI40078;AAI40079;AAI42992;AAT27441;EAW62654;EAW62655;EAW62656;EAW62657;NP_001001551;NP_001243844;Q5T6J7 Hs.530261 1682375;2123615;2175114 RH99118;SHGC-52640;SHGC-57524 C9orf103;bA522I20.2 OTTHUMP00000021547;OTTHUMP00000021548;glucokinase-like protein;gluconate kinase;gluconokinase-like protein;probable gluconokinase APPROVED protein-coding 31367 16671 611343 VALIDATED 1343257 IER2 immediate early response 2 19 19 19 p13.2 13151680 13156120 + 13122282 13126722 + 13261282 13265722 + 737633;6480464 12477932 22120713;15489334;2061303;19584537;19156129;19322201;21693764;21906983;22505724;22797925 9592 Q9BTL4 ABBA01029753;AC011446;AMYH01009503;BC003625;BC072432;BC110647;BT019466;CH471106;CR450352;M62831;NM_004907 AAA35814;AAH03625;AAH72432;AAI10648;AAV38273;ABM83218;ABM86418;CAG29348;EAW84358;EAW84359;EAW84360;NP_004898;Q9BTL4 Hs.501629 1647409;1689897;1795130;2127018;2155478;2159270 G15850;PMC98754P2;RH68061;RH93572;STS-M62831;STS-W96019 ETR101;MGC111472;MGC15265 immediate early response gene 2 protein protein-coding ENSG00000160888 28871 09997 VALIDATED 1602972 IDO2 indoleamine 2,3-dioxygenase 2 Along with the enzymes encoded by the INDO (MIM 147435) and TDO2 (MIM 191070) genes, the enzyme encoded by the INDOL1 gene metabolizes tryptophan in the kynurenine pathway (Ball et al., 2007 [PubMed 17499941]).[supplied by OMIM, Feb 2011] 8 8 p11.21 39911631 39993067 + 39792474 39873910 + 6480464;6907045 17499941;17671174;17430106;14702039;12477932;19476837;19487973;19799997;21084489;21835273;21406395 169355 F5H5G0;Q6ZQW0 ABBA01015906;AC007991;AC087518;AK092502;AK128691;AMYH01018657;BC031685;BC113496;BC113498;CH471080;EF052681;NM_194294 AAI13497;AAI13499;ABM69260;BAC87573;EAW63269;NP_919270;Q6ZQW0 Hs.676257 1743365;2149079;5022450;5037552;5109281 D10S275;D1S1425;D8S2279;G10419;GDB:315505 INDOL1 IDO-2;OTTHUMP00000223617;indoleamine 2,3-dioxygenase 2;indoleamine 2,3-dioxygenase-like 1 protein;indoleamine 2,3-dioxygenase-like protein 1;indoleamine-pyrrole 2,3 dioxygenase-like 1;indoleamine-pyrrole 2,3-dioxygenase-like protein 1 APPROVED protein-coding ENSG00000188676 27269 14113 612129 VALIDATED 1322129 IDUA iduronidase, alpha-L- This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] 4 4 p16.3 970785 988317 + 980785 998317 + 1599894;1580863;6480464;7240710 1301196 2470345;19396826;18340403;17570076;16435195;16344560;16169070;15862278;15521993;15300847;12818523;12559846;12477932;11861306;11825626;11735025;11555618;10738517;10735634;10466419;9391892;8680403;8664897;8554071;8477267;8401515;8328452;8242073;8213840;8019563;7951228;7550242;7550232;6821579;4221470;2220820;2170400;1946389;1883197;1832239;1550122;1505961;1362562;1301941;19751987;19839758;21364962;21176924;21394825;21521498;21639919;21397026;21831683;20301341;23143250;22504420 3425 B3KWK6;D6R9D5;D6RBD5;D6REB5;H0Y9B3;H0Y9R9;P35475 AB208901;ABBA01019349;ABBA01019350;AC019103;AK098805;AK125223;AK291816;AMYH01013842;BC029959;BC099922;CD367032;CH471131;DA057148;M74715;M95740;NG_008103;NM_000203 AAA51698;AAA81589;AAH29959;BAD92138;BAF84505;BAG54168;EAW82616;EAW82617;EAW82618;EAW82619;EAW82620;EAW82621;EAW82622;EAW82623;EAW82624;EAW82625;EAW82626;EAW82627;NP_000194;P35475 Hs.89560 1659421;1677556;1679123;1684124;1690135;1715719;1742267;1742307;1743025;1743897;1743899;1743901;1743903;1796816;5015919;5015921;5095291;5120814;5120816;5120818;5120820;5120822;5120824;5120826 D4S111;GDB:194363;GDB:196305;GDB:249664;GDB:375196;GDB:375201;GDB:375204;GDB:375207;GDB:375210;GDB:375213;GDB:375216;GDB:375219;GDB:375222;GDB:375225;GDB:375228;GDB:375231;GDB:375234;IDUA_s18;RH119306;SHGC-59739;SHGC-67289;SHGC-67320;SHGC4-969;SLC26A1_1601 IDA;MPS1 OTTHUMP00000112666;OTTHUMP00000217309;alpha-L-iduronidase APPROVED protein-coding ENSG00000127415 5391 02016 252800;607014;607015;607016 REVIEWED 1346818 IDO1 indoleamine 2,3-dioxygenase 1 This gene encodes indoleamine 2,3-dioxygenase (IDO) - a heme enzyme that catalyzes the first and rate-limiting step in tryptophan catabolism to N-formyl-kynurenine. This enzyme acts on multiple tryptophan substrates including D-tryptophan, L-tryptophan, 5-hydroxy-tryptophan, tryptamine, and serotonin. This enzyme is thought to play a role in a variety of pathophysiological processes such as antimicrobial and antitumor defense, neuropathology, immunoregulation, and antioxidant activity. Through its expression in dendritic cells, monocytes, and macrophages this enzyme modulates T-cell behavior by its peri-cellular catabolization of the essential amino acid tryptophan.[provided by RefSeq, Feb 2011] 8 8 p12-p11 39890485 39905107 + 39771328 39786309 + 1580863;2290313;2290190;6480464;6907045 3400092;10719243 8406467;2109605;16477023;14704851;9712583;19448397;19353519;19306922;19264674;19168733;19155537;19106591;19074858;19058839;19050070;19010841;19004406;18832696;18802343;18776940;18660700;18639339;18622801;18438685;18370410;18332894;18299324;18274832;18205804;18176870;18055547;18045970;18036645;18008147;17951526;17911610;17711549;17674321;17626075;17535808;17433037;17393386;17321596;17318080;17294609;17229698;17202379;17192467;17182891;17170728;17038913;17015408;16842443;16834326;16686756;16513157;16511306;16489067;16421220;16406698;16319139;16176799;16135011;15967116;15950064;15947091;15919929;15711557;15528322;15489334;15374002;15254595;15245429;15102781;15070879;15001472;14969766;14871294;14502282;13678429;12963490;12938169;12766158;12738417;12477932;12471139;12444143;12228717;12186837;11987129;11912287;11876748;11867636;11230514;11180976;8817290;8404046;2848333;2549057;2501398;2482041;2326172;1716396;1449503;17158233;16169070;22860140;23209301;20648630;20484731;21028817;17605849;19363598;19434461;19465693;19487045;19489917;19514129;19564344;19597340;19604093;19604349;19693771;19695096;19737010;19740345;19783182;19815714;19828629;19829303;19844741;19929471;19933867;20128646;20192952;20201926;20331378;20522587;20570568;21030093;20635895;20689575;17207965;20361220;20663292;10737800;16344560;18026683;21324164;21690092;21094802;20938662;20386557;21292009;22638210;22929065;21691274;21832049;22722711;21835273;22891315;23179760;21361337;21461563;21461581;21666788;21592112;21712776;21517752;21517753;21517755;21517756;21517757;21359206;21502325;22110525;22202241;22913669;23200754;23232072;23344392;21176371;21755000;21692032;23090116;21616522;21617756;21355883;21742973;21575365;21600662;21693183;20691806;21328335;21501890;21892828;21980470;22069308;22093628;22184722;22301793;21835147;21952237;23440412;21487895;22013481;21118329;22039265;21044950;22424783;22932670;22751107;22519828;22592557;21823214;22112045;22828446;23289444;22923135;22936460;22526360;17376903;20602605;22690871 3620 E5RGR8;E5RH36;E5RIX2;J3KN03;P14902 ABBA01015907;AC007991;AK313259;AMYH01018657;AU137351;AY221100;BC027882;BF094375;CD366252;CD690354;CH471080;HI179038;JF772862;M34455;NG_028155;NM_002164;X17668 AAA36081;AAH27882;AAO34405;ADQ31773;AEF30540;BAG36069;CAA35663;CBX53828;EAW63270;EAW63271;EAW63272;NP_002155;P14902 Hs.840 1743251;1743433;1774030;1857363;5014051;5015619;5022200;5037552 D11S3114;D8S2278;D8S2279;GDB:313220;GDB:319998;L18426;RH17694;SHGC-12674 CD107B;IDO;IDO-1;INDO IDO-1;OTTHUMP00000225716;OTTHUMP00000226123;indolamine 2,3 dioxygenase;indole 2,3-dioxygenase;indoleamine 2,3-dioxygenase 1;indoleamine-pyrrole 2,3 dioxygenase;indoleamine-pyrrole 2,3-dioxygenase APPROVED protein-coding 6059 00935 147435 REVIEWED 1351665 IDS iduronate 2-sulfatase Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked Mucopolysaccharidosis Type II, also known as Hunter Syndrome. Iduronate-2-sulfatase has a strong sequence similarity with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2009] X X q28 148368206 148394698 - 148560295 148586884 - 1599819;1580863;6480464;7240710 1550586 3104200;2122463;18546295;17657858;17655837;17616540;17284421;17091340;17063374;16735228;16699754;16617305;16480701;16133661;15909065;15772651;15614569;15500445;15146464;14702039;12794697;12655569;12477932;11731225;11683780;11462244;11256614;11015461;10838181;10737977;10671065;10447264;10220152;10215411;9950361;9921913;9875019;9762601;9660053;9501270;9375851;9337875;9266380;9222763;9147653;8940265;8830188;8717057;8664909;8566953;8530090;8528670;8490623;8364592;8318991;8281149;8244397;8111411;7981716;7887413;7866405;7728156;7599640;7581397;6418082;2222422;1906048;1901826;1639384;1355630;1303211;1284597;19913121;20628086;16344560;19602578;19933090;20125193;20104590;21108396;20301451;22622771;18500569;21062272;20467438;21593745;22492741;22990955 3423 B3KWA1;B4DGD7;B4DIX1;E5RHJ1;H0YB91;O60597;P22304 ABBA01049654;ABBA01049655;ABBA01049656;ABBA01049657;AC233288;AC244197;AF011889;AF050145;AI242974;AK055600;AK057191;AK294541;AK295815;AL117536;AMYH01023193;BC006170;BX647357;CH471171;DA325538;DB500211;EF363095;HH961810;L04586;L13321;L13329;L38660;L40586;M58342;NG_011900;NM_000202;NM_001166550;NM_006123 AAA16877;AAA59192;AAA63197;AAA92014;AAB64180;AAC05984;AAC77828;AAH06170;BAG57748;BAG58633;CBX51378;EAW61280;EAW61281;EAW61282;EAW61283;EAW61284;EAW61285;NP_000193;NP_001160022;NP_006114;P22304 Hs.460960 1653776;1653778;1660564;1702624;1702672;1744827;1744829;1745641;1745643;1745647;1745649;1745651;1745653;1745657;1745659;1745661;1745663;1754441;1793630;1857249;2114226;2114590;2124715;2131795;2149621;2166446;2169412;2190863;2219826;5015619;5022200;5117887;5117889;5117891 D11S3114;DXS6981E;DXS7018E;DXS9739;G27404;GDB:511278;GDB:568794;GDB:568797;GDB:629871;GDB:629939;GDB:629943;GDB:629946;GDB:629963;GDB:629977;GDB:629998;GDB:630007;GDB:630010;GDB:631496;GDB:631572;GDB:631575;GDB:631578;IDS__6440;L18426;PMC24149P4;PMC311008P2;RH47302;RH47309;RH67788;RH69756;RH78585;SHGC-132567;SHGC-36026;STS-M58342;STS-R15451 MPS2;SIDS OTTHUMP00000216437;OTTHUMP00000216438;OTTHUMP00000216439;alpha-L-iduronate sulfate sulfatase;iduronate 2-sulfatase;iduronate 2-sulfatase 14 kDa chain;iduronate 2-sulfatase 42 kDa chain;idursulfase APPROVED protein-coding ENSG00000010404 5389 02402 300823;309900 REVIEWED 1352833 IER3IP1 immediate early response 3 interacting protein 1 This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011] 18 18 18 q12 41531935 41553267 - 42935411 42956743 - 44681390 44702745 - 1580863;6480464 18029348;16341674;15489334;15276200;12477932;11256614;11230166;11042152;10931946;18476594;19885854;19951536;22939629;21835305;8889549;21900206;21987572;21963094;23000965;21139048;21890473;21906983;19322201;22991235 51124 Q9P171;Q9Y5U9 AA211693;ABBA01018616;ABBA01018617;AC051635;AF119875;AF125100;AF164798;AF371963;AK027108;AL136667;AMYH01008974;BC010888;BC017391;BM829309;CH471096;CR533488;NG_031925;NM_016097 AAD39917;AAF69629;AAF80762;AAH10888;AAH17391;AAK53816;ABM83792;ABM87114;ACE86570;ACE87253;CAB66602;CAG38519;EAW62909;NP_057181;Q9Y5U9 Hs.130917 1651351;1777794;2145379;5093078 A009F19;G32506;RH15973;RH36100 HSPC039;MEDS;PRO2309 OTTHUMP00000163487;immediate early response 3-interacting protein 1 APPROVED protein-coding ENSG00000134049 18550 13727 609382;614231 REVIEWED 1349464 IER5L immediate early response 5-like 9 9 9 q34.11 102590120 102592833 - 130977652 130980361 - 131937831 131940540 - 6480464 16341674;15146197;12477932;8889548;21987572 389792 Q5T953 ABBA01043920;ABBA01043921;AL158151;AMYH01021755;BC013070;BC064028;BM763373;BQ574938;BU676697;BX458317;CH471090;CN293040;NM_203434 AAH64028;EAW87886;NP_982258;Q5T953 Hs.529857 1698352;1819822;1829342;1829344;1831242;1836498;1840228;1841400;1841722;1841944;1842082;1930332;1930334;1930336;1930338;1930340;1930342;1930344;1930346;1930348;1930350;1930352;1930354;1930356;1930358;1930360;1930362;1930364;1930366;1930368;1930370;1930372;2208382;2208384 ECD10981;ECD15802;ECD15803;ECD16757;ECD19412;ECD21298;ECD21896;ECD22059;ECD22175;ECD22244;REN35995;REN35996;REN35997;REN35998;REN35999;REN36000;REN36001;REN36002;REN36003;REN36004;REN36005;REN36006;REN36007;REN36008;REN36009;REN36010;REN36011;REN36012;REN36013;REN36014;REN36015;RH102717;stSG628257;stSG628259 MGC70833;bA247A12.2 OTTHUMP00000022330;immediate early response gene 5-like protein protein-coding ENSG00000188483 23679 17128 VALIDATED 1603680 IFFO1 intermediate filament family orphan 1 This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 p13.3 8265555 8282111 - 6518955 6535490 - 6648694 6665249 - 6480464 16713569;16189514;14702039;12477932;8771189;3052284;16344560;17207965;21139048;21890473;22505724;22797925 25900 B4DQQ1;E9PPX7;F8W8H2;H0Y6L7;Q0D2I5;Q6P593;Q9Y4M3 AA251428;ABBA01017643;ABBA01017644;AC006064;AF124432;AI423929;AI969315;AK000710;AK095106;AK298905;AL080214;AL548672;AMYH01004204;AW075280;BC001790;BC002857;BC004384;BC010431;BC023664;BC063004;BC071170;BC103817;BC103818;BC103819;BC110387;BC113848;BC114454;BM147696;BM922290;BX327856;BX648701;BX648743;CH471116;DA268043;DA744744;DA969856;NM_001039670;NM_001193457;NM_080730;NR_036467 AAH02857;AAH04384;AAH63004;AAH71170;AAI03818;AAI03819;AAI10388;AAI13849;AAI14455;ADQ32404;BAA91335;BAG52986;BAG61013;CAB45778;CAH56164;CAH56183;EAW88781;EAW88782;EAW88783;EAW88784;EAW88785;NP_001034759;NP_001180386;NP_542768;Q0D2I5 Hs.15243 1662621;1688330;1750387;2178046;2217670 NOL1_4026;RH93399;SHGC-112544;SHGC-64826;WI-15438 DKFZp586I2223;FLJ20703;HOM-TES-103;IFFO;MGC117359 HOM-TES-103 tumor antigen-like;OTTHUMP00000180568;OTTHUMP00000180569;OTTHUMP00000180570;OTTHUMP00000233401;OTTHUMP00000246301;intermediate filament family orphan 1;intermediate filament-like MGC:2625;tumor antigen HOM-TES-103 APPROVED protein-coding ENSG00000010295 24970 09988 610495 REVIEWED 2301100 IFFO2 intermediate filament family orphan 2 1 1 1 p36.13 17558090 17609830 - 19103232 19155413 - 19230774 19282826 - 6480464 14702039;12477932;20360068;21906983 126917 H0Y4W3;J3KNZ4;Q5TF58 ABBA01059749;AK024480;AL080251;AMYH01000310;BC063709;CH471134;NM_001136265 BAB15770;EAW94862;NP_001129737;Q5TF58 Hs.466625 1338574;1340437;1847477;2165472;2174390;7186972 D1S3604;D1S483;D1S552;D7S711;SHGC-74303 OTTHUMP00000002592;OTTHUMP00000002593;intermediate filament family orphan 2 protein-coding ENSG00000169991 27006 VALIDATED 737469 IER5 immediate early response 5 This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008] 1 1 1 q25.3 154164524 154166865 + 179324261 179326602 + 181057638 181059979 + 6480464 19238419;16710414;15498874;15489334;12477932;11102586;10049588;8889549;19156129;22132193;22797925 51278 Q5VY09 AA235294;ABBA01027785;AF178984;AF258581;AI696140;AJ251089;AL356267;AMYH01001543;BC000128;BC108253;CH471067;NM_016545 AAF44348;AAG23784;AAH00128;AAI08254;CAB91983;EAW91099;NP_057629;Q5VY09 Hs.730689 1671542;1848532 RH64630;SHGC-75988 MGC102760;SBBI48 OTTHUMP00000033133;immediate early response gene 5 protein APPROVED protein-coding ENSG00000162783 5393 06210 607177 VALIDATED 1347080 IER3 immediate early response 3 This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008] 6 6 p21.3 30818955 30820306 - 30710976 30712327 - 1580863;6480464 18564103;8603392;15451437;9196025;9703517;19285955;19152102;18026799;17704804;16973576;16960879;16567805;16344560;15855159;15781630;15767410;15489334;15120418;12761504;12743274;12682234;12510147;12477932;12356731;12032839;11910304;11844788;11782530;11455449;10448082;9878538;9791001;9781666;9588170;8653710;8125298;18482256;16702430;20713914;20587610;16456541;19690192;19773435;19837266;19851445;20934684;21832049;21112119;21518511;21906983;22085302;21250941;23455636 8870 P46695;Q5ST79 AB088101;AB103607;AB202099;ABBA01038057;AF039067;AF071596;AF083421;AK222588;AK314162;AL662797;AL662848;AL845353;AMYH01016207;BA000025;BC000844;BC005080;BM915952;BT006703;BX248307;CH471081;CR936878;CT009501;DA893782;NM_003897;S81914;X96438;Y14551;Y16736 AAB36278;AAC32558;AAC33793;AAC72344;AAH00844;AAH05080;AAP35349;BAB63319;BAC54933;BAD96308;BAE78619;BAF31268;BAG36846;CAA65304;CAA74886;CAA76350;EAX03329;EAX03330;EAX03331;NP_003888;P46695 Hs.76095 1687970;1725707;1792036;1792600;1792602;1792604;1795132;1796042;2117342;2153669 G62116;IER3_130;PMC135646P5;PMC154982P1;PMC154982P2;PMC154982P3;PMC98754P3;RH78215;RH91431;STS-AA034911 DIF-2;DIF2;GLY96;IEX-1;IEX-1L;IEX1;PRG1 OTTHUMP00000029400;PACAP-responsive gene 1 protein;anti-death protein;differentiation-dependent gene 2 protein;expressed in pancreatic carcinoma;gly96, mouse, homolog of;immediate early protein GLY96;immediate early response 3 protein;immediately early gene X-1;protein DIF-2;radiation-inducible immediate-early gene IEX-1 APPROVED protein-coding ENSG00000137331 5392 04295 602996 REVIEWED 1350219 IFI4 interferon-induced protein 4 7240710 3175763 3427 5400 127400;615010 1321848 IFI30 interferon, gamma-inducible protein 30 The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008] 19 19 p13.1 18145579 18149927 + 18284579 18288927 + 1580863;6480464;6907045 3136170;19240061;18410276;18343923;12477932;12198183;12021307;11491538;10852914;10639150;1069150;16170;20668223;18029348;21701784 10437 M0QZG3;P13284 AB049659;ABBA01051249;AC007192;AC068499;AC093080;AF097362;AF401212;AI022513;AK123477;AK291551;AL558891;AMYH01009586;BC021136;BC031020;BE515053;CH471106;DQ884410;NM_006332 AAD22672;AAF04618;AAH21136;AAH31020;AAL02170;ABI63377;ABM82942;ABM86132;BAC98466;BAF84240;EAW84661;EAW84662;EAW84663;EAW84664;EAW84665;EAW84666;NP_006323;P13284 Hs.14623 1671738;1768321;5037552 D1S2103;D8S2279;SHGC-32638 GILT;IFI-30;IP30;MGC32056 gamma-interferon-inducible lysosomal thiol reductase;gamma-interferon-inducible protein IP-30;interferon gamma-inducible protein 30 preproprotein;legumaturain APPROVED protein-coding ENSG00000216490 5398 05234 604664 REVIEWED 1344171 IFI16 interferon, gamma-inducible protein 16 This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011] 1 1 q22 157246306 157291569 + 158979682 159024945 + 1580863;6480464 7536752;14654789;9642285;9766636;18029348;19338980;18974396;18598717;18472023;18231640;17981596;17981541;17699163;17510972;17339605;16964243;16710414;16494870;16344560;15728246;15572361;15569046;15489334;15302935;17981573;14990579;14729471;17981542;14702039;12925527;12894224;12682910;12539042;12477932;12184920;11146555;11115400;9718316;7959953;7806273;1526658;20504932;20628624;20595294;20214740;11940648;12513910;19170058;19553003;19635103;19885868;20052289;20379614;7890747;8910340;20890285;21383967;12588705;19158679;20488664;21397192;21471287;21573174;21575908;23022380;21139048;21906983;22691496;22618232;22046441;22291595;22320325;21252943;22483801;21832049;23027953;21963094;22751105;23000965;23345332;22939635;23251661;23388709;22505724;23427152;23463506 3428 E7EPR3;H3BM18;H3BR65;H3BR88;H3BVE6;Q5T3X2 AB208989;ABBA01016621;AF086545;AF208043;AK094968;AK296228;AK307957;AL359753;AMYH01001444;AY138863;BC017059;BM806453;BM993134;CH471121;DA945454;DA990524;DB273519;M63838;NG_029141;NM_001206567;NM_005531;S75415;S75433 AAA58683;AAB32519;AAF20997;AAH17059;AAM96005;ABM81988;ABM85168;BAC04462;BAD92226;BAG58950;EAW52797;EAW52798;EAW52799;EAW52800;EAW52801;EAW52802;EAW52803;NP_001193496;NP_005522;Q16666 Hs.380250 1646856;1653077;1705678;1722573;1853485;2121070;2140915;2145770;2182086;5015455 AL009415;AL009999;D1S1562;D1S3285;G60217;RH103;RH48430;SHGC-35795;SHGC-52731;SHGC-83418 IFNGIP1;MGC9466;PYHIN2 OTTHUMP00000035192;OTTHUMP00000035193;OTTHUMP00000035197;gamma-interferon-inducible protein 16;ifi-16;interferon-gamma induced protein IFI 16;interferon-inducible myeloid differentiation transcriptional activator APPROVED protein-coding ENSG00000163565 5395 00969 147586 REVIEWED 1344421 IFI27L2 interferon, alpha-inducible protein 27-like 2 14 14 14 q32.12 74647895 74649734 - 93663871 93665710 - 94594118 94595957 - 1580863;6480464 14728724;15489334;15014966;12477932 83982 Q9H2X8 ABBA01030420;AF208232;AF238978;AL121838;AMYH01005968;BC022800;BC032626;BE737110;BN000226;CH471061;NM_032036 AAF65760;AAG35730;AAH22800;AAH32626;CAE00393;EAW81559;EAW81560;NP_114425;Q9H2X8 Hs.94695 FAM14A;ISG12B;MGC44913;TLH29 ISG12(b) protein;OTTHUMP00000245802;family with sequence similarity 14, member A;interferon alpha-inducible protein 27-like protein 2;interferon-stimulated gene 12b protein;pIFI27-like protein protein-coding ENSG00000119632 19753 13291 611319 VALIDATED 1312056 IFI35 interferon-induced protein 35 17 17 q21 38412351 38419999 + 41158742 41166476 + 1580863;6480464 8954125;8288566;18305040;17197158;16341674;15489334;12665801;12539042;12477932;11911807;10950963;10779520;8938427;7753812;20628624;18624398;21139048;21906983;23226549 3430 P80217 AA740882;AA827287;AA832092;ABBA01006393;ABBA01006394;AC055866;AK025406;AMYH01008400;BC001356;BM050205;BM748764;BU571030;CH471152;L78833;NM_005533;U72882 AAB61703;AAC37597;AAH01356;ABM83524;ABM86752;EAW60914;EAW60915;EAW60916;NP_005524;P80217 Hs.632258 1647686;1733442;1733810;2109425;2138751;2145191;2172886 A002O37;D17S1224;D17S1328;G30666;HSC1IB122;IFI35_8415;STS-AA025690 FLJ21753;IFP35 IFP 35;OTTHUMP00000236626;OTTHUMP00000236627;ifi-35;interferon-induced 35 kDa protein protein-coding ENSG00000068079 5399 02844 600735 VALIDATED 1351661 IFI27 interferon, alpha-inducible protein 27 14 14 q32 93646832 93652786 + 94577079 94583033 + 1580863;6480464 17166282;18953482;18361427;18330707;18329281;22309998;16381901;15489336;15489334;15063762;15014966;14728724;14719078;14702039;12878323;12539042;12477932;11722583;11375929;11256614;11230166;11076863;9837900;8358738;18814951;19558503;19817957;20237496;21447007;21503567;20663873;22320196;22427340;23383510 3429 A8K0H0;C9JX49;E7EQA7;G3V2M7;G3V3Q7;G3V4L7;G3V4U3;G3V5W8;H0YJR6;P40305;Q7Z5R2 ABBA01030420;AI799552;AJ294851;AK095039;AK097084;AK289535;AK312089;AL079302;AL121838;AMYH01005968;AU103232;AY126456;AY126457;AY126458;BC015492;BN000227;BT006781;BU601451;BX647330;CB993374;CH471061;FB659850;NM_001130080;NM_005532;X67325 AAH15492;AAM95743;AAM95744;AAM95745;AAP35427;ABM84742;BAF82224;BAG35025;CAA47739;CAC10503;CAE00394;CAL37985;CAL38654;CAS01779;EAW81556;EAW81557;EAW81558;NP_001123552;NP_005523;P40305 Hs.532634 5091942 SHGC-12357 FAM14D;ISG12;ISG12A;P27 2310061N23Rik;ISG12(a);OTTHUMP00000245779;OTTHUMP00000245780;OTTHUMP00000245782;OTTHUMP00000245783;interferon alpha-induced 11.5 kDa protein;interferon alpha-inducible protein 27;interferon alpha-inducible protein 27, mitochondrial;interferon-stimulated gene 12a protein protein-coding ENSG00000165949 5397 02479 600009 VALIDATED 1347783 IFI27L1 interferon, alpha-inducible protein 27-like 1 14 14 14 q32.12 74601412 74622829 + 93617392 93638808 + 94547639 94569060 + 1580863;6480464 16344560;15489334;15014966;14728724;12477932;8889548;19260139;20237496 122509 G3V248;G3V2F0;G3V349;G3V3W3;G3V460;G3V4A1;G3V585;Q96BM0 ABBA01030421;AL079302;AMYH01005968;BC015423;BN000225;BU739372;CH471061;DA693965;NM_145249;NM_206949 AAH15423;ACT64524;ACT64525;ADZ15768;CAE00392;EAW81553;EAW81554;EAW81555;NP_660292;NP_996832;Q96BM0 Hs.19414 1650160;1651709;1740057;1776857 A008J36;D14S903;RH15710;WI-20999 FAM14B;ISG12C ISG12(c) protein;OTTHUMP00000245767;OTTHUMP00000245768;OTTHUMP00000245769;OTTHUMP00000245771;OTTHUMP00000245772;OTTHUMP00000245773;OTTHUMP00000245776;family with sequence similarity 14, member B;interferon alpha-inducible protein 27-like protein 1;interferon-stimulated gene 12c protein protein-coding ENSG00000165948 19754 13292 611320 VALIDATED 1321473 IFI44 interferon-induced protein 44 1 1 1 p31.1 77354992 77369278 + 78888104 78902345 + 79115477 79129763 + 1580863;6480464 18953482;17784819;16886895;15489334;12539042;12477932;7925411;20237496;18029348;17207965;22896602;21628590;21987572;21963094;23453885 10561 B7ZAG3;C9JUM8;H7C1F3;Q8TCB0 ABBA01074390;AC104837;AK302527;AK316476;AMYH01000724;BC022870;CA426666;CH471059;D28915;DC300799;DN994910;NM_006417 AAH22870;ADQ32248;BAA06043;BAG63800;BAH14847;EAX06347;EAX06348;NP_006408;Q8TCB0 Hs.82316 1656199;2108789;2115581 IFI44_9140;RH69519;SHGC-75043 MTAP44;TLDC5;p44 OTTHUMP00000011293;TBC/LysM-associated domain containing 5;interferon-induced protein 44;interferon-induced, hepatitis C-associated microtubular aggregate protein (44kD);microtubule-associated protein 44 protein-coding ENSG00000137965 16938 09998 610468 VALIDATED 1352700 IFI44L interferon-induced protein 44-like 1 1 1 p31.1 77325610 77351345 + 78858741 78880657 + 79086088 79111830 + 6480464 16344560;12477932;20237496;8125298;23453885 10964 B4E019;C9JPJ0;H7C1K6;Q53G44 AB000115;AB116553;ABBA01074390;AC104837;AK223087;AK225442;AK293385;AK303187;AK312272;AK316232;AL832618;AMYH01000724;AW015958;BC015932;CH471059;DA699730;NM_006820 AAH15932;BAA19056;BAD96807;BAF51962;BAG35202;BAG56895;BAG64281;BAH14603;CAD90004;EAX06349;NP_006811;Q53G44 Hs.744918 1675285;1767121;1788692;1849649;1852877;2159598 D1S3613;RH125614;RH18393;RH48344;RH68243;SHGC-75025 C1orf29;GS3686 OTTHUMP00000011296;interferon-induced protein 44-like protein-coding 17817 13728 613975 VALIDATED 1342851 IFIT1P1 interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1 13 13 13 q13.1 14025624 14026336 + 31856821 31857533 + 32958739 32960779 + 10978293;3175763 8373 ABBA01010137;AF196987;AL445212;AMYH01005021;NG_001215;NG_012772 G13P1;IFI56P;IFIT1P;II56P APPROVED pseudo 5408 INFERRED 1344579 IFIT1B interferon-induced protein with tetratricopeptide repeats 1B 10 10 10 q23.31 84884634 84891783 + 91127793 91134942 + 91137813 91144962 + 6907045 3175763;12477932 439996 Q5T764 ABBA01021948;AL353751;AMYH01002934;BC137368;BC137369;BC150189;BX647300;CH471066;NM_001010987 AAI37369;AAI37370;AAI50190;EAW50139;NP_001010987;Q5T764 Hs.500491 2173491 WI-11615 DKFZp781M1841;IFIT1L;bA149I23.6 OTTHUMP00000020061;interferon-induced protein with tetratricopeptide repeats 1-like protein;interferon-induced protein with tetratricopeptide repeats 1B APPROVED protein-coding ENSG00000204010 23442 17129 VALIDATED 1342870 IFI6 interferon, alpha-inducible protein 6 This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008] 1 1 p35 27865159 27871311 - 27992572 27998724 - 1580863;6480464 15685448;3017706;18029348;15489334;14728724;12477932;7596809;6548414;3359997;1713665;1695131;20377629;1303280;15502823;20628624;17823654;18838000;20237496;21832049;19322201;21996729 2537 P09912 ABBA01034985;AF430686;AJ426287;AK024814;AK314488;AL445490;AMYH01000423;BC011601;BC015603;BN000257;BT006850;CH471059;CQ834276;NM_002038;NM_022872;NM_022873;U22970;X02492 AAC50159;AAC50160;AAC50161;AAH11601;AAH15603;AAL26623;AAP35496;BAG37089;CAA26322;CAD19977;CAE12275;CAH05353;EAX07744;EAX07745;EAX07746;NP_002029;NP_075010;NP_075011;P09912 Hs.523847;Hs.730125 1683936;1792566;1793848;2217352 G1P3_2752;PMC154027P1;PMC299790P5;RH80818 6-16;FAM14C;G1P3;IFI-6-16;IFI616 OTTHUMP00000003605;OTTHUMP00000003606;OTTHUMP00000003607;interferon alpha-inducible protein 6;interferon, alpha-inducible protein clone IFI-6-16;interferon-induced protein 6-16 APPROVED protein-coding ENSG00000126709 4054 00959 147572 REVIEWED 3476341 IFIT6P interferon-induced protein with tetratricopeptide repeats 6, pseudogene 10 10 10 q23.31 84868893 84870046 + 91110025 91113217 + 91122072 91123225 + 100128465 ABBA01021948;AL353751;AMYH01002934;NG_022187 1654644;1721537;1742235;1793840;1998738;2110985;2114781;2121750;2133414;2135592;2146395;2146709;2150612;2159662;2163044 A009W43;D10S474E;G01522;G01532;G59773;GDB:193863;PMC299790P1;REN70281;RH46192;RH48237;RH69073;SGC38130;SGC38164;STS-T92735;WI-18437 pseudo 38020 INFERRED 1312562 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012] 10 10 q23.31 91142302 91153725 + 91152303 91166244 + 1580863;6480464;6907045 10950979;12777642;17804510;17969451;19244243;20926571;20950130;3753936;19008854;16973618;16344560;16189514;15489334;14702039;12708317;12477932;11152506;11118224;10662616;10644362;9826176;6186990;3585080;3360121;3175763;3121313;1377167;20628624;16385451;19416887;16449650;21642987;21129252;21612406;21976647;16009940;22647704;23334420 3434 D3DR31;P09914 ABBA01021948;AK092813;AK308688;AK314588;AL353146;AL548182;AL711085;AMYH01002934;BC007091;BI670242;BT006667;BU625391;CA306581;CD106320;CH471066;DA822484;DB003897;DB180094;DB474377;NM_001270927;NM_001270928;NM_001270929;NM_001270930;NM_001548;X03557;X06559 AAH07091;AAP35313;ABM84460;ABM84681;BAG37163;BAG52612;CAA27244;CAA29802;EAW50136;EAW50137;EAW50138;NP_001257856;NP_001257857;NP_001257858;NP_001257859;NP_001539;P09914 Hs.20315 1675429;1719853;1742233;1792020;2115741;2116035;2219828 G15877;GDB:193862;IFIT1__6442;PMC135632P1;RH123621;RH17956;RH77911 C56;G10P1;GARG-16;IFI-56;IFI-56K;IFI56;IFIT-1;IFNAI1;ISG56;P56;RNM561 Interferon, alpha-inducible protein (MW 56kD);OTTHUMP00000020062;interferon-induced 56 kDa protein;interferon-induced protein 56;interferon-induced protein with tetratricopeptide repeats 1;interferon-inducible mRNA 561 APPROVED protein-coding 5407 00983 147690 REVIEWED 1347526 IFIH1 interferon induced with helicase C domain 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012] 2 2 q24 162831835 162883285 - 163123589 163175218 - 1580863;6480464;6907045 20736039;19450885;12477932;22561518;22152027;19620789;19539001;19531363;22053898;21052763;19403670;19324880;19264985;19211564;19164550;19156166;19154402;19073967;19016379;18927125;18684960;18285833;18071670;18026693;17554260;17541283;17535987;17442111;17267501;16797201;16782388;16699517;16575407;16177806;16127453;16116171;15563593;15489334;14702039;14676839;14645903;22908223;22590509;22732950;21496705;12015121;11805321;21342182;19913121;20595247;20628086;20647273;20668468;20694011;20538742;19380577;19430480;19565506;19615405;19742420;19797678;19838195;19841890;19846522;19881509;19890046;19951419;19961590;20033399;20116863;20203524;20467774;20644636;18029348;20953190;20719949;20739519;11002417;21071089;21156324;20844740;23090998;21123378;21187438;21270278;21224721;21245912;21289206;17079289;22192091;23152520;21113677;21705624;21844166;21903422;21910972;21978001;22046141;22160685;19656871;22301138;22705106;21906983;22110759;21829393;22185736;20434986;23144876;23399697;21832049;22886382;22915805;22789000;23128233;23441136;22797917;23499489;22461656;22623778;23273991;22892369;23246693;23284052;22864531 64135 Q53TP4;Q9BYX4 ABBA01004893;AC007750;AC010876;AF095844;AK056293;AK292941;AK314611;AMYH01011214;AY017378;BC007966;BC046208;BC078180;BC111750;BQ772836;BU902097;CH471058;NG_011495;NM_022168 AAG34368;AAG54076;AAH46208;AAH78180;AAI11751;AAX93137;AAY24206;BAB71141;BAF85630;EAX11352;NP_071451;Q9BYX4 Hs.163173 1674999 WI-17740 Hlcd;IDDM19;MDA-5;MDA5;MGC133047;RLR-2 CADM-140 autoantigen;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide;OTTHUMP00000162935;RIG-I-like receptor 2;RNA helicase-DEAD box protein 116;clinically amyopathic dermatomyositis autoantigen 140 kDa;helicard;helicase with 2 CARD domains;interferon-induced helicase C domain-containing protein 1;interferon-induced with helicase C domain protein 1;melanoma differentiation associated protein-5;melanoma differentiation-associated protein 5;murabutide down-regulated protein APPROVED protein-coding ENSG00000115267 18873 09507 606951 REVIEWED 1317209 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 10 10 q23.31 91051686 91059013 + 91061706 91069033 + 1580863;6480464 18029348;17081983;17030862;16973618;16344560;12708317;12477932;9391139;8889549;3466167;3360121;3175763;3119591;2454816;1377167;16189514;21190939;16385451;18819931;19416887;20506645;22065572;16009940;21163940;22825553;22939629;22647704 3433 P09913;Q05DN2 AA143609;AA765174;ABBA01021948;AK300431;AK312831;AL353751;AMYH01002934;BC005987;BC032839;CH471066;DA631671;EB387611;M14659;M14660;NM_001547;X07557 AAA59191;AAH05987;AAH32839;BAG62157;CAA30438;EAW50145;NP_001538;P09913 Hs.437609 1654644;1721537;1742235;1793840;2133414;2146395;2150612 G59773;GDB:193863;PMC299790P1;RH46192;RH48237;RH69073;SGC38130 G10P2;GARG-39;IFI-54;IFI-54K;IFI54;IFIT-2;ISG-54 K;ISG-54K;ISG54;P54;cig42 Interferon, alpha-inducible protein (MW 54kD);OTTHUMP00000020058;interferon-induced 54 kDa protein;interferon-induced protein 54;interferon-induced protein with tetratricopeptide repeats 2 protein-coding ENSG00000119922 5409 00913 147040 VALIDATED 1602166 IFITM4P interferon induced transmembrane protein 4 pseudogene 6 6 6 p22.1 31322017 31322358 - 29826563 29826904 - 29718584 29718925 - 6480464 16344560 340198 ABBA01038036;AL022723;AL645939;AL669813;AL844851;AMYH01016197;BX005428;BX927182;CR759769;CR788234;DB311150;NR_001590 Hs.450189 2125910 D6S2268 dJ377H14.5 pseudo ENSG00000235821 21669 PROVISIONAL 1353716 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 10 10 q24 91077733 91090314 + 91087602 91100725 + 1580863;6480464 18706081;17933493;16964243;16344560;16341674;16189514;15489334;12539042;12477932;9828129;9391139;9207104;14499622;20533260;16385451;19351818;16449650;20686046;21056555;20403236;21813773;20137113;21163940;22490698;16009940;17050680;22647704 3437 O14879;Q5T765 ABBA01021948;AF026939;AF083470;AK290427;AK297137;AK312675;AL353751;AMYH01002934;BC001383;BC004977;BM790031;BT007284;BX101054;CH471066;DA081546;DB268497;NM_001031683;NM_001549;U52513 AAB40606;AAB95160;AAC63524;AAH01383;AAH04977;AAP35948;ADZ15493;BAF83116;BAG59639;EAW50143;EAW50144;NP_001026853;NP_001540;O14879 Hs.744072 1793840;2114781;2121750;2163044;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;PMC299790P1;SGC38164;STS-T92735;WI-18437 CIG-49;GARG-49;IFI60;IFIT4;IRG2;ISG60;P60;RIG-G CIG49;IFI-60K;IFIT-3;IFIT-4;ISG-60;OTTHUMP00000020059;OTTHUMP00000020060;interferon-induced 60 kDa protein;interferon-induced protein with tetratricopeptide repeats 3;interferon-induced protein with tetratricopeptide repeats 4;retinoic acid-induced gene G protein protein-coding ENSG00000119917 5411 05228 604650 VALIDATED 1348146 IFIT5 interferon-induced protein with tetratricopeptide repeats 5 10 10 10 q23.31 84921138 84927568 + 91164419 91170733 + 91174325 91180759 + 1580863;6480464 15489334;12477932;9398535;16169070;16385451;19615732;21163940;21139048;16009940;19322201;21642987;23317505;23334420 24138 B4DDV1;Q13325 ABBA01021948;AK293346;AK312358;AL353146;AMYH01002934;BC025786;CH471066;CR457031;DC392439;NM_012420;U34605 AAA84934;AAH25786;BAG35276;BAG56862;CAG33312;EAW50135;NP_036552;Q13325 Hs.252839 1774105;2171307;2176362;2219830 A004R39;HSC1RH042;IFIT5__6444;WI-17128 FLJ53857;FLJ92678;P58;RI58 IFIT-5;OTTHUMP00000020063;interferon-induced 58 kDa protein;interferon-induced protein with tetratricopeptide repeats 5;retinoic acid- and interferon-inducible 58 kDa protein;retinoic acid- and interferon-inducible protein (58kD) protein-coding ENSG00000152778 13328 17130 VALIDATED 2289755 IFITM9P interferon induced transmembrane protein 9 pseudogene 11 11 11 q13.3 66413816 66414271 - 68827394 68827849 - 69070818 69071273 - 22747683 390218 ABBA01013429;AMYH01003771;AP005232;NG_006210 pseudo 33972 INFERRED 1604413 IFITM8P interferon induced transmembrane protein 8 pseudogene 8 8 8 q12.3 60312083 60312481 + 64484177 64484575 + 64321623 64322021 + 15869325 613204 ABBA01041841;AC011124;AMYH01018763;DQ031534;NG_005307 pseudo 32202 INFERRED 1345385 IFN1@ interferon, type 1, cluster 3438 5415 1606092 IFITM5 interferon induced transmembrane protein 5 This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012] 11 11 11 p15.5 259924 261247 + 288203 289526 - 298200 299526 - 6480464;7240710 12477932;18442316;12659663;11106657;21166591;22363774;22863190;22863195;23240094 387733 A6NNB3 AA460254;ABBA01011169;AC136475;AMYH01003277;BC150562;BC150563;BQ574249;CH471278;CR747200;NG_032892;NM_001025295 A6NNB3;AAI50563;AAI50564;AAI56101;AAI56993;EAW61222;NP_001020466 Hs.443469 1678999;2189351 MARC_2547-2548:991932804:1;RH92933 BRIL;DSPA1;Hrmp1;OI5;fragilis4 OTTHUMP00000229441;bone-restricted ifitm-like protein;bone-restricted interferon induced transmembrane protein-like protein;bone-restricted interferon-induced transmembrane protein-like protein;dispanin subfamily A member 1;interferon-induced transmembrane protein 5 APPROVED protein-coding ENSG00000206013 16644 610967;614757 REVIEWED 1352409 IFITM2 interferon induced transmembrane protein 2 11 11 11 p15.5 250035 251338 - 298107 299410 + 308107 309410 + 1580863;6480464 6548414;15231747;1906403;15489334;12477932;3935435;21319273;20628624;21177806;16169070;19544527;20534863;21139048;21906983;21987572 10581 E9PQN9;H0YCL2;H7BYV1;Q01629 ABBA01011170;AC136475;AMYH01003277;BC009696;BG164993;BG257141;BT009859;CH471278;CR456894;CR541874;CS300517;NM_006435;X02490;X57351 AAH09696;AAP88861;ABM82593;ABM85541;CAA26321;CAA40625;CAG33175;CAG46672;CAK32181;EAW61220;EAW61221;NP_006426;Q01629 Hs.709321 1657070;5021588 RH17821;SGC31615 1-8D;DSPA2c OTTHUMP00000229443;dispanin subfamily A member 2c;interferon-induced transmembrane protein 2;interferon-inducible protein 1-8D APPROVED protein-coding ENSG00000185201 5413 05718 605578 VALIDATED 1353177 IFNA11P interferon, alpha 11, pseudogene 9 p21.3 21398613 21399138 - 4057246 3461 ABBA01065176;AL353732;AMYH01019275;NG_027866 IFNP11 APPROVED pseudo 5442 INFERRED 5132175 IFITM10 interferon induced transmembrane protein 10 11 11 p15.5 1794149 1807467 - 1753640 1771824 - 6480464 12477932;14702039;16554811;8889548;16344560 402778 A6NMD0;H0Y3H0 ABBA01012157;ABBA01012158;AC068580;AK022293;AK289574;AMYH01003315;BC036199;BM728073;BQ183689;BQ669640;BQ672240;BU169250;DB219779;NM_001170820 A6NMD0;BAF82263;NP_001164291 Hs.121575 1800858;1802866;1803196;1803650;1803880;1819916;1821394;1822722;1825906;1826168;1826598;1826784;1828144;1830482;1833066;1840258;1841498;1842800;1980656;1980658;1980660;1980662;1980664;1980666;1980668;1980670;1980672;1980674;1980676;1980678;1980680;1980682;1980686;1980688;1980690;1980692;1980694;1980696;1980698;1980700;1980702;1980704;1980706;1980708;1980710;1980712;1980714;1980716;1980718;1980720;1980722;1980724;1980726;1980728;1980730;1980732;1980734;1980736;1980738;1980740;1980742;1980744;1980746;1980748;1980750;1980752;1980754;1980756;1980758;1980760;1980762;1980764;1980766;1980768;1980770;1980772;1980774;1980776;1980778;1980780;1980782;1980784;2216344 ECD01294;ECD02321;ECD02490;ECD02731;ECD02853;ECD11029;ECD11781;ECD12449;ECD14062;ECD14194;ECD14413;ECD14507;ECD15195;ECD16376;ECD17675;ECD21313;ECD21946;ECD22607;REN61221;REN61222;REN61223;REN61224;REN61225;REN61226;REN61227;REN61228;REN61229;REN61230;REN61231;REN61232;REN61233;REN61234;REN61236;REN61237;REN61238;REN61239;REN61240;REN61241;REN61242;REN61243;REN61244;REN61245;REN61247;REN61248;REN61249;REN61250;REN61251;REN61252;REN61253;REN61254;REN61255;REN61256;REN61257;REN61258;REN61259;REN61260;REN61261;REN61262;REN61263;REN61264;REN61265;REN61266;REN61267;REN61268;REN61269;REN61270;REN61271;REN61272;REN61273;REN61274;REN61275;REN61276;REN61277;REN61278;REN61279;REN61280;REN61281;REN61282;REN61283;REN61284;REN61285;REN61286;stSG548450 DSPA3;FLJ12231;FLJ76511 CD225 family protein FLJ76511;OTTHUMP00000040804;dispanin subfamily A member 3;hypothetical protein LOC402778;interferon-induced transmembrane protein 10 protein-coding ENSG00000244242 40022 VALIDATED 1316889 IFITM1 interferon induced transmembrane protein 1 11 11 p15.5 303991 305272 + 313991 315272 + 1580863;6480464;6907045 14667819;7559564;18202764;15808405;15661263;15489334;12926988;12477932;6548414;3935435;22609115;2492664;2398277;1383329;21253575;18829488;19304549;19499152;20064371;20099975;20331378;20428811;20628624;21177806;20220060;22634173;20838853;21976647;18781797;20972266;21906983;21890473;21963094;22996292;22787204;22505724 8519 AAB25699;P13164 ABBA01011170;AC136475;AK290480;AMYH01003278;BC000897;BT007173;CH471278;J04164;NM_003641;X84958 AAA35494;AAB25699;AAH00897;AAP35837;ABM82020;ABM85202;BAF83169;CAA59337;EAW61218;EAW61219;NP_003632;P13164 Hs.458414 1792570;1793844;1793846;2153944;2164694 A004R14;PMC154027P3;PMC299790P3;PMC299790P4;RH36343 9-27;CD225;DSPA2a;IFI17;LEU13 OTTHUMP00000229445;dispanin subfamily A member 2a;interferon-induced protein 17;interferon-induced transmembrane protein 1;interferon-inducible protein 9-27;leu-13 antigen APPROVED protein-coding ENSG00000185885 5412 05122 604456 VALIDATED 1343819 IFNA12P interferon, alpha 12, pseudogene 9 9 9 p21.3 21341558 21341867 + 21393144 21393653 + 21403245 21403554 + 15233997;4057246 158011 ABBA01065176;AL353732;AMYH01019275;NG_004681 IFNP12;IFNWP12 APPROVED pseudo 5443 INFERRED 1602644 IFLTD1 intermediate filament tail domain containing 1 12 12 12 p12.1 30775975 30947972 - 25520283 25597445 - 25629016 25801496 - 6480464 16344560;15688036;14702039;12477932;21832049;15342556;8889548 160492 F5H3Q3;F5H5I3;F5H719;F5H8G2;H0YFE3;H0YFH5;Q8N9Z9 ABBA01068023;ABBA01068024;AC022367;AK093323;AK296816;AK302292;AK310411;AMYH01004340;AMYH01004341;AMYH01004342;AMYH01004343;BC037957;BM976998;BP359528;CH471094;DB029156;DB039294;DB054364;DW009862;NM_001145727;NM_001145728;NM_001145729;NM_001256266;NM_152590 AAH37957;BAC04132;BAG59389;BAG63632;EAW96516;EAW96517;EAW96518;NP_001139199;NP_001139200;NP_001139201;NP_001243195;NP_689803;Q8N9Z9 Hs.44647 1704228;1721561;1755863;2128377 D12S1313;G59785;SHGC-142701;SHGC-83143 FLJ36004;Pas1c1 OTTHUMP00000240000;OTTHUMP00000240001;OTTHUMP00000240103;OTTHUMP00000240104;OTTHUMP00000240105;intermediate filament tail domain-containing protein 1 protein-coding ENSG00000152936 26683 08768 VALIDATED 1352583 IFNA16 interferon, alpha 16 9 9 p22 21206372 21207310 - 21216372 21217310 - 1580863;6480464;6907045 16160188;6548765;6397400;6387705;4057246;1385305;1371992;9343822;9865497;7913356;8661419;17180012;16278001;15481145;8345204;7904170;7526537;1381203;7583919;1905933;2552026;12089333;9658081;9225992;9108403;8764000;7815507;7511078;16418394;8438572;11694501;7510216;20574843;20588308;21832049;16375755;1708818;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;19559726;19706714;2014240;22315404;22739040;22814248;7532202;9181467;9520456 3449 P05015;Q9UMJ2 ABBA01065178;AL512606;AMYH01019275;CH471071;K02055;M10201;M28585;NM_002173;X00140;X02957 AAA36042;AAA52727;AAA52732;AAI40291;AAI46501;CAA24970;CAA26703;EAW58618;NP_002164;P05015 Hs.56303 1796050;2178982;5494037 IFNA16_138;SHGC-35277;UniSTS:480792 IFN-alphaO IFN-alpha-16;IFN-alpha-N-protein;OTTHUMP00000021137;interferon alpha-16;interferon alpha-WA protein-coding ENSG00000147885 5421 00966 147580 PROVISIONAL 1343642 IFITM3 interferon induced transmembrane protein 3 The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012] 11 11 p15.5 309673 310914 - 319673 320914 - 1580863;6480464 1906403;18029348;11256614;18470904;18177740;16381901;16344560;16326387;15489336;15489334;12477932;11076863;10950117;20534863;21177806;19901966;19946179;21103663;21413873;21531817;21914072;22446628;22511783;21139048;21890473;21906983;18486613;20972266;21963094;23361009 10410 E9PS44;Q01628;R4GNG9 ABBA01011172;AC136475;AI355192;AK292173;AMYH01003278;BC006794;BC008417;BC022439;BC070243;BQ937265;BT006892;CH891444;DB261103;JQ610571;JQ610572;JQ610573;JQ610574;JQ610575;JQ610576;JQ610577;JQ610578;JQ610579;JQ610580;JQ610581;JQ610582;JQ610583;JQ610585;JQ610586;JQ610587;JQ610588;JQ610589;JQ610590;JQ610591;JQ610592;JQ610593;JQ610594;JQ610595;JQ610596;JQ610597;JQ610598;JQ610599;JQ610600;JQ610601;JQ610602;JQ610603;JQ610604;JQ610605;JQ610606;JQ610607;JQ610608;JQ610609;JQ610610;JQ610611;JQ610613;JQ610614;JQ610615;JQ610616;JQ610617;JQ610618;JQ610620;JQ610621;NG_032755;NM_021034;NR_049759;X57352 AAH06794;AAH08417;AAH22439;AAH70243;AAP35538;ABM82024;ABM85206;AFF60305;AFF60306;AFF60307;AFF60308;AFF60309;AFF60310;AFF60311;AFF60312;AFF60313;AFF60314;AFF60315;AFF60316;AFF60317;AFF60319;AFF60320;AFF60321;AFF60322;AFF60323;AFF60324;AFF60325;AFF60326;AFF60327;AFF60328;AFF60329;AFF60330;AFF60331;AFF60332;AFF60333;AFF60334;AFF60335;AFF60336;AFF60337;AFF60338;AFF60339;AFF60340;AFF60341;AFF60342;AFF60343;AFF60344;AFF60345;AFF60347;AFF60348;AFF60349;AFF60350;AFF60351;AFF60352;AFF60354;AFF60355;BAF84862;CAA40626;CAL37601;CAL38570;EAW50866;NP_066362;Q01628 Hs.374650 1792024;5021588 PMC135632P3;SGC31615 1-8U;DSPA2b;IP15 OTTHUMP00000230137;dispanin subfamily A member 2b;interferon-induced transmembrane protein 3;interferon-inducible protein 1-8U APPROVED protein-coding ENSG00000142089 5414 05719 605579;614680 REVIEWED 1352704 IFNA20P interferon, alpha 20, pseudogene 9 p21.3 21321299 21321826 + 3463 ABBA01065177;AL162420;AMYH01019275;NG_027867 FLJ13568;IFNP20 APPROVED pseudo 5444 INFERRED 1354356 IFNA1 interferon, alpha 1 The protein encoded by this gene is produced by macrophages and has antiviral activity. This gene is intronless and the encoded protein is secreted. [provided by RefSeq, Sep 2011] 9 9 p22 21430440 21431315 + 21440453 21441315 + 1580863;6480464;6907045 18606657;19434718;19339987;19258923;19158240;19124763;19095736;19050236;19000144;18926293;18771758;18633131;22242767;21317915;22706089;18576315;18405996;18318750;18311820;18283629;18272764;18218993;18184042;18071879;18050196;17968926;17968925;17956986;17933493;17911607;17785816;17703412;17597478;17572490;17517919;16948893;16859998;16797201;16785534;16426578;16253303;16175599;16005433;15989801;15941912;15883164;15795269;15790787;15699120;15674657;15634924;15621727;15585849;15571260;15489334;15240148;15233997;15188363;15164053;15087447;15056668;14734746;14500632;12967644;12817009;12804771;12761564;12759354;12749388;12682235;12620797;12581491;12543882;12538683;12530117;12477932;12435568;12410802;12393722;12323007;12242445;12162875;12097384;12091360;12070711;11991671;11986939;11744801;11315919;11032395;9520456;9425112;9271440;9181467;8668211;8454630;7932753;7532202;6479148;6310510;6163083;6159536;6157600;6157095;4057246;3262520;2985969;2014240;1849076;1708818;1385305;9343822;9865497;7913356;17180012;16278001;15481145;8345204;7904170;7526537;1381203;8661419;7583919;1905933;2552026;16160188;12089333;9658081;9225992;9108403;8764000;7815507;7511078;16418394;8438572;16375755;21268015;19913121;20465564;20554782;20565368;20574843;20588308;20592282;20628086;20980519;20817881;18708672;19401392;19651532;19657094;19754307;19796531;19796549;19817985;19857525;20018632;20112359;20149251;20164424;20174557;20237496;20299058;20303780;20331378;20503287;20860222;20959405;20506305;20810735;20964804;20182777;20473322;20857263;20875078;21339641;21263073;21320124;21276246;21177291;22192711;23026954;23042723;21213104;21376046;20065083;19203249;21361792;21705624;21821707;21525212;21772053;22222875;22226324;23462180;22156987;22684144;22195005;22661095;21923413;22149411;22264514;22693567;21120500;23382558;23479228;23224365;17360657;18005734;18200009;18200012;18414664;18672082;19004943;19559726;19706714;20096141;20588103;20628092;21645334;21918813;22315404;22396599;22685561;22739040;22814248;22925929;22249201;23237992 3439 L0N195;Q9UMJ3 AB445100;AB578886;ABBA01065176;AF439447;AL353732;AMYH01019275;BC074928;BC074929;BC112002;BC112300;BC112302;CH471071;CQ847555;DQ185447;E00175;GM863573;J00210;M29884;NM_024013;V00537;V00538 AAA52714;AAB59403;AAH74928;AAH74929;AAI12003;AAI12301;AAI12303;AAL35223;ABA03167;ADR83489;BAI99735;BAM72353;CAA23798;CAA23799;CAH18030;CAT16481;EAW58609;NP_076918;P01562 Hs.37026 1796046;1856849;2179256;5492611;5492737;5493341;5493685 IFNA13_1293;SGC35616;STS-J00210;UniSTS:481774;UniSTS:482161;UniSTS:485784;UniSTS:490313 IFL;IFN;IFN-ALPHA;IFN-alphaD;IFNA13;IFNA@;MGC138207;MGC138505;MGC138507 IFN-alpha 1b;IFN-alpha-1/13;OTTHUMP00000021142;interferon alpha 1b;interferon alpha-1/13;interferon alpha-D;interferon-alpha1;leIF D APPROVED protein-coding ENSG00000197919 5417 00974 147660 REVIEWED 1344393 IFNA22P interferon, alpha 22, pseudogene 9 9 9 p22 21216231 21216965 - 21267948 21268717 - 21277687 21278562 - 8001965;6163083;1385305 3453 ABBA01065177;AL162420;AMYH01019275;NR_036676;V00539 Hs.545842;Hs.742632 IFNAP22 APPROVED pseudo 5431 VALIDATED 1348367 IFNA10 interferon, alpha 10 9 9 9 p22 21144478 21145440 - 21196180 21197142 - 21206180 21207142 - 1580863;6480464;6907045 4057246;15489334;12477932;9425112;8668211;6397400;6181262;6163083;2526839;1385305;20574843;20588308;20722470;20331378;11694501;8605876;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3446 P01566 ABBA01065178;AL512606;AMYH01019275;BC069409;BC103972;BC103973;CH471071;M10200;NM_002171;V00531;V00551;X02961 AAH69409;AAI03973;AAI03974;CAA23812;EAW58619;NP_002162;P01566 Hs.282275 1653483;1741627;1796044;5015553;5020397;5095927;5492433;5493023 GDB:181595;IFNA10_134;RH47035;RH69109;RH70715;SGC35314;UniSTS:481033;UniSTS:483835 IFN-alphaC;MGC119878;MGC119879 IFN-alpha-10;OTTHUMP00000021134;interferon alpha-10;interferon alpha-6L;interferon alpha-C;leIF C protein-coding ENSG00000186803 5418 00963 147577 PROVISIONAL 1354164 IFNA17 interferon, alpha 17 9 9 p22 21217242 21218221 - 21227242 21228221 - 1580863;6480464;6907045 3891272;18539711;17956450;15004750;12490311;12477932;9712362;9425112;8668211;6397400;6165082;4008999;3767336;1634550;1385305;1371992;20574843;20588308;20722470;20331378;11694501;7510216;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3451 P01571 ABBA01065178;AL162420;AMYH01019275;BC096732;BC098355;CH471071;HH960122;M11026;M38289;M71246;NM_021268;V00532 AAA52713;AAA52725;AAA59165;AAH96732;AAH98355;CAA23793;CBX51305;EAW58617;NP_067091;P01571 Hs.282276 1741627;5015553;5020397;5095927 GDB:181595;RH69109;RH70715;SGC35314 IFN-alphaI;IFNA;INFA;LEIF2C1 IFN-alpha-17;OTTHUMP00000021140;interferon alpha-17;interferon alpha-88;interferon alpha-I';interferon alpha-T;interferon alpha-WA;leIF I protein-coding ENSG00000234829 5422 00967 147583 VALIDATED 1348999 IFNA14 interferon, alpha 14 9 9 9 p22 21177506 21178283 - 21229001 21229990 - 21239201 21239978 - 1580863;6480464;6907045 15489334;6163083;19258923;17703412;12477932;9425112;8910771;8668211;6165082;4057246;1602151;1385305;1371992;20574843;20588308;20331378;20503287;11694501;7510216;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3448 P01570 ABBA01065178;AL162420;AMYH01019275;BC074956;BC104159;BC104160;CH471071;NM_002172;V00533;V00542;X02959 AAH74956;AAI04160;AAI04161;CAA23794;CAA23803;CAA26705;EAW58616;NP_002163;P01570 Hs.93907 1796048;2121031;5015553;5492739 IFNA14_136;RH70715;SHGC-35275;UniSTS:482165 IFN-alphaH;LEIF2H;MGC125756;MGC125757 IFN-alpha-14;OTTHUMP00000021139;interferon alpha-14;interferon alpha-H;interferon lambda-2-H;leIF H protein-coding ENSG00000228083 5420 00965 147579 VALIDATED 1352734 IFNA13 interferon, alpha 13 9 9 p22 21357423 21358075 - 21367371 21368075 - 1580863;6907045 4057246;15489334;15233997;15164053;12477932;11032395;9425112;8668211;6479148;6310510;6163083;6159536;6157600;6157095;2985969;1385305;1371992;17703412;19258923;20237496;20503287;17207965;11694501;7510216;20588308;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3447 E9PB07;Q9UMJ3 ABBA01065176;AL353732;AMYH01019275;BC069427;BC093988;CH471071;NM_006900;X00803;X75934 AAH69427;AAH93988;ADQ32903;CAA25381;CAA53538;EAW58612;NP_008831;P01562 Hs.533471 1796046;2179256;5492611;5493341;5493685 IFNA13_1293;SGC35616;UniSTS:481774;UniSTS:485784;UniSTS:490313 IFNA1 IFN-alpha-1/13;OTTHUMP00000021144;interferon alpha-1/13;interferon alpha-D;leIF D protein-coding ENSG00000233816 5419 00964 147578 VALIDATED 1350795 IFNA2 interferon, alpha 2 This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded protein is a cytokine produced in response to viral infection. Use of the recombinant form of this protein has been shown to be effective in reducing the symptoms and duration of the common cold. [provided by RefSeq, Jun 2011] 9 9 p22 21374254 21375396 - 21384254 21385396 - 1580863;6480464;6907045 9108403;22570109;8366289;8234245;7627809;6310510;6170983;6164056;6163083;6162107;6159538;6159537;3906813;2049076;1834641;1385305;9343822;9865497;7913356;17180012;16278001;8994971;15481145;8345204;7904170;8668211;7526537;1381203;7583919;1905933;2552026;8661419;16160188;12089333;9658081;9225992;6158094;10477584;19574459;19258923;19153447;19055755;19000144;18937499;18729739;18584346;18032529;18027911;18005734;17880940;17703412;17477817;17181634;17116765;16920161;16697656;16171819;15233997;15004750;12477932;12010658;11888273;10339405;9694076;9425112;9417943;8764000;7815507;7511078;16418394;8438572;20574843;20588308;7759950;19345260;19564411;19621225;19790049;20159042;20237496;20331378;20503287;20532927;21115688;11694501;22610944;21057730;20309637;21411783;23055569;23184955;21466707;22885264;21854986;21757613;22482409;21223583;22204827;22332739;22951153;23213068;22610275;22731491;16375755;1708818;17360657;18200009;18200012;18272764;18414664;18672082;19004943;19559726;19706714;2014240;22315404;22685550;22739040;22814248;7532202;9181467;9520456 3440 P01563;Q6DJX8 ABBA01065176;AL353732;AMYH01019275;AY255838;AY532915;BC074936;BC074937;BC104163;BC104164;CH471071;CR541921;FB652838;J00207;JN591568;JN591569;JN591570;JN848522;M28028;M29883;M54886;NG_029154;NM_000605;S64979;S64991;S64994;V00544;V00548;V00549;Y11834 AAA36119;AAA52715;AAA59181;AAB59402;AAD13960;AAD13961;AAD13962;AAH74936;AAH74937;AAI04164;AAI04165;AAP20099;AAS92248;AET86951;AEX60802;AEX60803;AEX60804;CAA23805;CAA23809;CAA23810;CAA72532;CAG46719;CAR97164;EAW58611;NP_000596;P01563 Hs.211575 1645657;1657650;5492561;5492747;5493609 SHGC-35327;STS-J00207;UniSTS:481663;UniSTS:482177;UniSTS:489668 IFN-alphaA;IFNA;IFNA2B;INFA2;MGC125764;MGC125765 IFN-alpha-2;OTTHUMP00000021143;alpha-2a interferon;interferon alpha 2a;interferon alpha 2b;interferon alpha A;interferon alpha-2;interferon alpha-A;leIF A APPROVED protein-coding ENSG00000188379 5423 00950 147562 REVIEWED 1352508 IFNA5 interferon, alpha 5 9 9 9 p22 21242926 21243625 - 21294686 21295255 - 21304613 21305312 - 1580863;6480464;6907045 6163083;19258923;19000144;18953482;17703412;15489334;15340161;15164053;12477932;10395669;8668211;4057246;1385305;20574843;20588308;20237496;20331378;20503287;11694501;7510216;21832049;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081 3442 P01569 ABBA01065177;AL162420;AMYH01019275;BC093755;BC093757;CH471071;NM_002169;V00541;X02956 AAH93755;AAH93757;CAA23802;CAA26702;EAW58615;NP_002160;P01569 Hs.37113 1645484;1683329;5492543;5492921 RH79924;SHGC-35639;UniSTS:481592;UniSTS:483231 IFN-alpha-5;IFN-alphaG;INA5;INFA5;leIF G IFN-alpha-5;OTTHUMP00000021138;interferon alpha-5;interferon alpha-61;interferon alpha-G;leIF G protein-coding ENSG00000147873 5426 00953 147565 VALIDATED 1344688 IFNA21 interferon, alpha 21 This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011] 9 9 9 p22 21103926 21104949 - 21155636 21156619 - 21165636 21166659 - 1580863;6480464;6907045 6163083;15489334;12477932;9425112;9027905;8910771;8668211;6548765;1385305;20574843;20588308;20677014;20237496;20331378;11694501;7510216;15953390;17854033;21757613;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3452 P01568 ABBA01065178;AL390882;AMYH01019275;BC069329;BC069372;BC069408;BC096699;BC101638;BC101640;CH471071;M12350;M28586;NG_030029;NM_002175;V00540;X00145 AAA36041;AAA52718;AAH69329;AAH69372;AAH69408;AAH96699;AAI01639;AAI01641;CAA23801;CAA24980;EAW58623;NP_002166;P01568 Hs.113211 1796052;5106884;5492545;5493353 IFNA21_1257;SHGC-35276;UniSTS:481597;UniSTS:485812 IFN-alphaI;LeIF F;MGC126687;MGC126689;leIF-F IFN-alpha-21;OTTHUMP00000021132;interferon alpha-21;interferon alpha-F;leIF F;leukocyte interferon protein APPROVED protein-coding ENSG00000137080 5424 00968 147584 REVIEWED 1345453 IFNA8 interferon, alpha 8 9 9 p22 21399146 21400184 + 21409146 21410184 + 1580863;6480464;6907045 6163083;19258923;17703412;17517919;15233997;12477932;9425112;8836918;8668211;6325303;6164048;4057246;1385305;20574843;20588308;20237496;20331378;20503287;8969169;11694501;21832049;22570109;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3445 P32881 ABBA01065176;AL353732;AMYH01019275;BC104828;BC104830;CH471071;K01900;NM_002170;V00545;V00550;X03125 AAA52716;AAI04829;AAI04831;CAA23806;CAA23811;CAA26903;EAW58610;NP_002161;P32881 Hs.73890 1656859;1796054;5492915 D9S1712;IFNA8_140;UniSTS:483232 IFN-alphaB IFN-alpha-8;OTTHUMP00000021146;interferon alpha type 201;interferon alpha-8;interferon alpha-B;interferon alpha-B';interferon alpha-B2;leIF B protein-coding ENSG00000120242 5429 00955 147568 VALIDATED 1314896 IFNA4 interferon, alpha 4 9 9 9 p22 21124915 21125896 - 21176693 21177670 - 21186617 21187598 - 1580863;6480464;6907045 3891272;15489334;15164053;15163721;12477932;9425112;9335434;8668211;6089830;4057246;1385305;20588308;20237496;11694501;7510216;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3441 P05014 ABBA01065178;AL512606;AMYH01019275;BC074965;BC074966;BC113640;BC113642;CH471071;CS054853;M27318;NM_021068;X02955 AAA52726;AAH74965;AAH74966;AAI13641;AAI13643;ADR82856;ADR83497;CAA26701;CAI75147;EAW58621;NP_066546;P05014 Hs.1510 1653483;1796044;5020397;5095927;5493415 IFNA10_134;RH47035;RH69109;SGC35314;UniSTS:486143 IFN-alpha4a;INFA4;MGC142200 IFN-alpha-4;OTTHUMP00000021135;interferon alpha-4;interferon alpha-4B;interferon alpha-76;interferon alpha-M1 protein-coding ENSG00000236637 5425 00952 147564 VALIDATED 1346018 IFNB3 interferon, beta 3, fibroblast 12009575;6304727;1440058 3457 K03196 protein-coding 5436 1347304 IFNA7 interferon, alpha 7 9 9 p22 21191468 21192204 - 21201468 21202204 - 1580863;6907045;6480464 8345204;7904170;7526537;1381203;8661419;7583919;1905933;2552026;16160188;12089333;9658081;9225992;9108403;8764000;7815507;7511078;16418394;8438572;2995168;15489334;12477932;9425112;8910771;8668211;6181262;4057246;1385305;9343822;9865497;7913356;17180012;16278001;15481145;20237496;20331378;11694501;7510216;16375755;1708818;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;19559726;19706714;2014240;22315404;22739040;22814248;7532202;9181467;9520456 3444 P01567 ABBA01065178;AL512606;AMYH01019275;BC074991;BC074992;BC113994;BC114000;CH471071;M34913;NM_021057;V00531;X02960 AAA36039;AAH74991;AAH74992;AAI13995;AAI14001;CAA23792;CAA26706;EAW58620;NP_066401;P01567 Hs.282274 1741581;1796050;1797726;2121031;5492709;5493939 GDB:181544;IFNA16_138;IFNA7_1866;SHGC-35275;UniSTS:480472;UniSTS:482105 IFN-alphaJ;IFNA-J IFN-alpha 7;IFN-alpha-7;IFN-alpha-J1;OTTHUMP00000021136;interferon alpha-7;interferon alpha-J;interferon alpha-J1;leIF J protein-coding ENSG00000214042 5428 08857 147567 VALIDATED 1350617 IFNA6 interferon, alpha 6 9 9 9 p22 21288629 21289198 - 21340317 21340886 - 21350317 21350886 - 1580863;6480464;6907045 19258923;17703412;15489334;15340161;15233997;12477932;9425112;8668211;4057246;1385305;20574843;20588308;20237496;20331378;20503287;11694501;7510216;12089333;1381203;15481145;16160188;16278001;16375755;16418394;1708818;17180012;17360657;18005734;18200009;18200012;18272764;18414664;18672082;19004943;1905933;19559726;19706714;20096141;2014240;22315404;22739040;22814248;2552026;7511078;7526537;7532202;7583919;7815507;7904170;7913356;8345204;8438572;8661419;8764000;9108403;9181467;9225992;9343822;9520456;9658081;9865497 3443 P05013 ABBA01065177;AL353732;AMYH01019275;BC069471;BC096697;BC096710;BC096730;BC098357;CH471071;NM_021002;X02958 AAH69471;AAH96697;AAH96710;AAH96730;AAH98357;CAA26704;EAW58613;NP_066282;P05013 Hs.533470 1677236;5492437 RH79925;UniSTS:481054 IFN-alphaK IFN-alpha-6;OTTHUMP00000021145;interferon alpha-54;interferon alpha-6;interferon alpha-K;leIF K protein-coding 5427 00954 147566 VALIDATED 6769427 IFNG-AS1 IFNG antisense RNA 1 q15 11735227;14702039;22851706 100885789 AK124066;BF510189 Hs.439832 Tmevpg1 APPROVED miscrna 43910 1313408 IFNAR1 interferon (alpha, beta and omega) receptor 1 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008] 21 21 q22.11 33619084 33653999 + 34697214 34732129 + 1580863;5147491;5490275;5490273;5490272;5490274;6480464;6907045 21756311;18566423;19603548;21383977;19487810 17923090;7665574;2153461;8181059;19124753;19103527;18953482;18937499;18801736;18761606;18535656;18474601;18362156;18338947;18250407;18166147;18056411;17823081;17703412;17667505;17517919;17310065;17125879;17027223;17001036;16624932;16338279;16171819;15990456;15946680;15885318;15589821;19434718;19258923;15489334;15449939;15337770;15063762;14727154;14647450;14532120;12761564;12697242;12620806;12618863;12554654;12477932;12220192;11786546;11167825;10830953;10542297;9733772;9677371;9174595;9029147;8626489;8605876;8125298;7559568;7526154;2148760;1834641;1370833;1350660;9225992;9121453;19957332;19913121;20565290;20588308;20628086;11301323;15389589;19220955;19299650;19453261;19501422;19559055;19561067;19730683;19773451;19796549;19805514;19817957;19879773;19948722;20020050;20065083;20237496;20331378;20378664;20503287;7932753;8524272;9403695;20811626;11694501;21173164;21690295;15356134;21540188;21695243;21821707;21830897;10490982;23129613;21757742;21832278;22258259;23209811;21139048;21865166;22156349;22036215;22162633;22136495;22218495;21716316;22786773;23128233;22824466 3454 B4DNT3;C9J114;C9JV08;P17181 ABBA01057338;AF039907;AK123813;AK222770;AK222812;AK298051;AK312631;AMYH01012210;AP000296;AP000297;AP000298;AY654286;BC002590;BC014338;BC021825;BC035603;BC065751;BG116121;BG548299;BX537636;CA309858;CH471079;J03171;NM_000629;R15745;X60459 AAA52730;AAH02590;AAH21825;AAT49100;ABM82249;ABM85433;BAD96490;BAD96532;BAG35516;BAG60345;CAA42992;EAX09837;EAX09838;EAX09839;NP_000620;P17181 Hs.529400 1647824;1671213;1673056;1674357;1677260;1741731;1741763;1741765;1806454;1807688;1807888;1808946;1813010;1813080;1817380;1819314;1821590;1821852;1824180;1824256;1824874;1826684;1827308;1827310;1827468;1827720;1827722;1833122;1834208;1835692;1835994;1836912;1838468;1838966;1840442;1840522;1845842;1851426;2027580;2027582;2027584;2027586;2027588;2027590;2027592;2027594;2027596;2027598;2027600;2027602;2027604;2027606;2027608;2027610;2027612;2027614;2027616;2027618;2027620;2027622;2027624;2027626;2027628;2027630;2027632;2027634;2027636;2027638;2027640;2027642;2027644;2027646;2027648;2027650;2027652;2027654;2027656;2027658;2027660;2027662;2027664;2027666;2027668;2027670;2027672;2027674;2027676;2027678;2027680;2027682;2027684;2027686;2027688;2027690;2027692;2027694;2027696;2027698;2027700;2027702;2027704;2027706;2027708;2027710;2027712;2027714;2027716;2027718;2027720;2027722;2027724;2027726;2027728;2027730;2027732;2027734;2027736;2027738;2027740;2027742;2027744;2027746;2027748;2027750;2027752;2027754;2027756;2027758;2027760;2027762;2027764;2027766;2027768;2027770;2027772;2027774;2027776;2027778;2027780;2027782;2027784;2027786;2027788;2027790;2027792;2027794;2027796;2027798;2027800;2027802;2027804;2027806;2027808;2027810;2027812;2027814;2027816;2027818;2027820;2027822;2027824;2027826;2027828;2027830;2027832;2027834;2027836;2027838;2027840;2027842;2027844;2027846;2027848;2027850;2027852;2027854;2027856;2027858;2027860;2027862;2027864;2027866;2027868;2027870;2101070;2101072;2101074;2101076;2101078;2101080;2101082;2101084;2101086;2101088;2101090;2101092;2101094;2101096;2101098;2101100;2101102;2101104;2101106;2101108;2101110;2101112;2101114;2101116;2101118;2111934;2121575;2141287;2163366;2185698;2218552;5022322;5037552;5109281;5120437 D11S2560;D1S1425;D20S588E;D21S1827;D21S2039;D8S2279;ECD04183;ECD04816;ECD04919;ECD05456;ECD07519;ECD07559;ECD09740;ECD10724;ECD11881;ECD12012;ECD13186;ECD13225;ECD13536;ECD14456;ECD14769;ECD14770;ECD14850;ECD14982;ECD14983;ECD17703;ECD18252;ECD19003;ECD19158;ECD19620;ECD20408;ECD20662;ECD21407;ECD21448;ECD24140;G34659;GDB:182417;GDB:185153;GDB:185155;GDB:315881;IFNAR1_4106;REN84794;REN84795;REN84796;REN84797;REN84798;REN84799;REN84800;REN84801;REN84802;REN84803;REN84804;REN84805;REN84806;REN84807;REN84808;REN84809;REN84810;REN84811;REN84812;REN84813;REN84814;REN84815;REN84816;REN84817;REN84818;REN84819;REN84820;REN84821;REN84822;REN84823;REN84824;REN84825;REN84826;REN84827;REN84828;REN84829;REN84830;REN84831;REN84832;REN84833;REN84834;REN84835;REN84836;REN84837;REN84838;REN84839;REN84840;REN84841;REN84842;REN84843;REN84844;REN84845;REN84846;REN84847;REN84848;REN84849;REN84850;REN84851;REN84852;REN84853;REN84854;REN84855;REN84856;REN84857;REN84858;REN84859;REN84860;REN84861;REN84862;REN84863;REN84864;REN84865;REN84866;REN84867;REN84868;REN84869;REN84870;REN84871;REN84872;REN84873;REN84874;REN84875;REN84876;REN84877;REN84878;REN84879;REN84880;REN84881;REN84882;REN84883;REN84884;REN84885;REN84886;REN84887;REN84888;REN84889;REN84890;REN84891;REN84892;REN84893;REN84894;REN84895;REN84896;REN84897;REN84898;REN84899;REN84900;REN84901;REN84902;REN84903;REN84904;REN84905;REN84906;REN84907;REN84908;REN84909;REN84910;REN84911;REN84912;REN84913;REN84914;REN84915;REN84916;REN84917;REN84918;REN84919;REN84920;REN84921;REN84922;REN84923;REN84924;REN84925;REN84926;REN84927;REN84928;REN84929;REN84930;REN84931;REN84932;REN84933;REN84934;REN84935;REN84936;REN84937;REN84938;REN84939;RH18397;SHGC-19221;SHGC-35315;SHGC-52130;SHGC-5963;SHGC-87597;STS-J03171;stSG607080;stSG607081;stSG607082;stSG607083;stSG607085;stSG607086;stSG607087;stSG607088;stSG607089;stSG607090;stSG607091;stSG607092;stSG607093;stSG607094;stSG607095;stSG607096;stSG607097;stSG607098;stSG607099;stSG607100;stSG607101;stSG607102;stSG607103;stSG607104;stSG607105 AVP;IFN-alpha-REC;IFNAR;IFNBR;IFRC CRF2-1;IFN-R-1;IFN-alpha/beta receptor 1;OTTHUMP00000067672;alpha-type antiviral protein;beta-type antiviral protein;cytokine receptor class-II member 1;cytokine receptor family 2 member 1;interferon alpha/beta receptor 1;interferon-alpha/beta receptor alpha chain;interferon-beta receptor 1;type I interferon receptor 1 APPROVED protein-coding ENSG00000142166 5432 00126 107450 REVIEWED 1346107 IFNAR2 interferon (alpha, beta and omega) receptor 2 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.11 33524101 33558697 + 34602231 34636827 + 1580863;6480464;6907045;7240710 11046044;17923090;8798579;7588638;8969169;19434718;19401692;19258923;18971450;18801736;18715339;18676680;18456658;18456457;18338947;18027911;17703412;17697365;17667505;17572016;17517919;17095088;16624932;16518956;16106266;16054712;16000408;15885318;15717316;15449939;15389589;15287740;15286706;15063762;14980076;14647450;12960323;12842042;12618863;12477932;12220192;12218119;12133952;12105218;11888273;11786546;11301323;10830953;10339405;9121453;8889548;8181059;7759950;7665574;7570186;10395669;16710296;19170196;19299650;19362011;19453261;19505916;19625176;19667218;19692168;19714778;19773279;19773451;19796549;19817957;20065083;20087947;20237496;20331378;20453000;20503287;20811626;17567994;11694501;19913121;20485444;20588308;20628086;21690295;22236545;21988832;23128233;22632162 3455 C9JCU0;C9JM33;C9K067;F8WDE1;H7C176;P48551;Q9BUA0 ABBA01057334;ABBA01057335;ABBA01057336;AK293059;AMYH01012208;AMYH01012209;AP000292;AP000293;AP000294;AP000295;AY740397;BC002793;BC013156;BG715143;BI520056;BM677386;CH471079;CR541817;L41942;L41943;L41944;L42237;L42238;L42239;L42240;L42241;L42242;L42243;NG_016003;NM_000874;NM_207584;NM_207585;U29584;X77722;X89772;X89814 AAB46413;AAB46414;AAB46415;AAB46417;AAB46418;AAB46419;AAC50202;AAH02793;AAU21038;ABM83941;ABM87259;BAF85748;CAA54785;CAA61914;CAA61940;CAG46616;EAX09842;EAX09843;EAX09844;EAX09845;EAX09846;NP_000865;NP_997467;NP_997468;P48551 Hs.708195 1334721;1668738;1734330;1754305;1778357;1778975;1778977;1804554;1805100;1807748;1814130;1816204;1817660;1817796;1820120;1821588;1821850;1824632;1824710;1825122;1825124;1826682;1827870;1833190;1833864;1834110;1835356;1835426;1835690;1837556;1838360;1838522;1839088;1839302;1841076;1841918;1842976;1843034;1846150;2026784;2026786;2026788;2026790;2026792;2026794;2026796;2026798;2026800;2026802;2026804;2026806;2026808;2026810;2026812;2026814;2026816;2026818;2026820;2026822;2026824;2026826;2026828;2026830;2026832;2026834;2026836;2026838;2026840;2026842;2026844;2026846;2026848;2026850;2026852;2026854;2026856;2026858;2026860;2026862;2026864;2026866;2026868;2026870;2026872;2026874;2026876;2026878;2026880;2026882;2026884;2026886;2026888;2026890;2026892;2026894;2026896;2026898;2026900;2026902;2026904;2026906;2026908;2026910;2026912;2026914;2026916;2026918;2026920;2026922;2026924;2026926;2026928;2026930;2026932;2026934;2026936;2026938;2026940;2026942;2026944;2026946;2026948;2026950;2026952;2026954;2026956;2026958;2026960;2026962;2026964;2026966;2026968;2026970;2026972;2026974;2026976;2026978;2026980;2026982;2026984;2026986;2026988;2026990;2026992;2026994;2026996;2026998;2027000;2027002;2027004;2027006;2027008;2027010;2027012;2027014;2027016;2027018;2027020;2027022;2027024;2027026;2027028;2027030;2027032;2027034;2027036;2027038;2027040;2027042;2027044;2027046;2027048;2027050;2027052;2027054;2027056;2027058;2027060;2027062;2027064;2027066;2027068;2027070;2027072;2027074;2027076;2027078;2027080;2027082;2027084;2027086;2027088;2027090;2027092;2100954;2100956;2100958;2100960;2100962;2100964;2100966;2100968;2100970;2100972;2100974;2100976;2100978;2100980;2100982;2100984;2100986;2100988;2100990;2100992;2100994;2100996;2100998;2130950;2153897;2170044;2183971;5037552 A006D32;D21S1684;D21S1898;D8S2279;ECD03206;ECD03492;ECD04847;ECD08094;ECD09142;ECD09882;ECD09952;ECD11133;ECD11880;ECD12011;ECD13414;ECD13453;ECD13662;ECD13663;ECD14455;ECD15058;ECD17737;ECD18078;ECD18203;ECD18833;ECD18868;ECD19002;ECD19945;ECD20354;ECD20435;ECD20723;ECD20831;ECD21731;ECD22161;ECD22696;ECD22725;ECD24295;G20728;G34802;REN84393;REN84394;REN84395;REN84396;REN84397;REN84398;REN84399;REN84400;REN84401;REN84402;REN84403;REN84404;REN84405;REN84406;REN84407;REN84408;REN84409;REN84410;REN84411;REN84412;REN84413;REN84414;REN84415;REN84416;REN84417;REN84418;REN84419;REN84420;REN84421;REN84422;REN84423;REN84424;REN84425;REN84426;REN84427;REN84428;REN84429;REN84430;REN84431;REN84432;REN84433;REN84434;REN84435;REN84436;REN84437;REN84438;REN84439;REN84440;REN84441;REN84442;REN84444;REN84445;REN84446;REN84447;REN84448;REN84449;REN84450;REN84451;REN84452;REN84453;REN84454;REN84455;REN84456;REN84457;REN84458;REN84459;REN84460;REN84461;REN84462;REN84463;REN84464;REN84465;REN84466;REN84467;REN84468;REN84469;REN84470;REN84471;REN84472;REN84473;REN84474;REN84475;REN84476;REN84477;REN84478;REN84479;REN84480;REN84481;REN84482;REN84483;REN84484;REN84485;REN84486;REN84487;REN84488;REN84489;REN84490;REN84491;REN84492;REN84493;REN84494;REN84495;REN84496;REN84497;REN84498;REN84499;REN84500;REN84501;REN84502;REN84503;REN84504;REN84505;REN84506;REN84507;REN84508;REN84509;REN84510;REN84511;REN84512;REN84513;REN84514;REN84515;REN84516;REN84517;REN84518;REN84519;REN84520;REN84521;REN84522;REN84523;REN84524;REN84525;REN84526;REN84527;REN84528;REN84529;REN84530;REN84531;REN84532;REN84533;REN84534;REN84535;REN84536;REN84537;REN84538;REN84539;REN84540;REN84541;REN84542;REN84543;REN84544;REN84545;REN84546;REN84547;REN84548;RH18027;SHGC-132328;SHGC-52139;SHGC-87558;SHGC-87595;STS-L42240;stSG607010;stSG607012;stSG607013;stSG607015;stSG607016;stSG607017;stSG607018;stSG607021;stSG607022;stSG607023;stSG607024;stSG607025;stSG607027;stSG607029;stSG607030;stSG607031;stSG607032;stSG607033;stSG607034;stSG607035;stSG607036;stSG607038;stSG607039 IFN-R;IFN-alpha-REC;IFNABR;IFNARB IFN-R-2;IFN-alpha binding protein;IFN-alpha/beta receptor 2;OTTHUMP00000067673;OTTHUMP00000067674;OTTHUMP00000067675;OTTHUMP00000067676;OTTHUMP00000206687;human interferon alpha/beta receptor;interferon alpha binding protein;interferon alpha/beta receptor 2;interferon-alpha/beta receptor beta chain;type I interferon receptor 2 APPROVED protein-coding ENSG00000159110 5433 03850 602376;610424 REVIEWED 1606106 IFNE interferon, epsilon 9 9 9 p21.3 21419150 21420624 - 21470838 21472312 - 21480838 21482312 - 6480464;6907045 18842358;18362232;17878351;17287131;15546383;15233997;12975309;12477932;20574843;20588308;20601674;22565157 338376 Q86WN2 ABBA01065176;AL353732;AMYH01019275;AY190045;AY358570;BC100871;BC100872;BC100873;NM_176891 AAI00872;AAI00873;AAI00874;AAO38686;AAQ88933;NP_795372;Q86WN2 Hs.682604 1797728;5493083 IFNT1_2211;UniSTS:484186 IFN-E;IFNE1;IFNT1;INFE1;MGC119018;MGC119020;PRO655 IFN-epsilon;OTTHUMP00000215910;interferon epsilon;interferon epsilon 1;interferon epsilon-1;interferon tau-1;interferon-epsilon protein-coding ENSG00000184995 18163 17132 615223 VALIDATED 1319166 IFNK interferon, kappa This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008] 9 9 9 27452433 27454617 + 27514312 27516496 + 27524312 27526496 + 1580863;6480464;6907045 11514542;18615156;15340161;15164053;12975309;12391192;20574843;20588308;20634891;20706608;19734901;19887612;20694011;20479716;20801718;21849431;23376709 56832 Q9P0W0 ABBA01065127;AF146759;AF315688;AF384048;AL451123;AMYH01019297;AY358855;CH471071;NM_020124 AAF67468;AAI40281;AAI41648;AAK01623;AAK63835;AAQ89214;EAW58563;NP_064509;Q9P0W0 Hs.591083 IFNT1;INFE1;RP11-27J8.1 IFN-kappa;OTTHUMP00000021169;interferon kappa;interferon-like protein APPROVED protein-coding ENSG00000147896 21714 17133 615223 REVIEWED 736615 IFNB1 interferon, beta 1, fibroblast 9 9 p21 21067104 21067943 - 21077104 21077943 - 1580863;6480464;6907045 10482360;17560375;17548221;17328045;17215277;17167270;17142768;17079289;16989575;16984921;16954376;16951313;16697656;16631220;16593086;16545883;16505900;16504464;16504056;16338279;16185826;16002711;15767399;15752772;15737993;15652402;15621727;15557158;15489334;15340234;15280450;15163721;15163707;15107417;15004750;14747551;14727154;14519765;14519761;12847277;12761564;12581491;12477932;12405292;12184914;12097388;12096926;12068083;12050353;11972054;11781186;10395669;10229237;9713311;9342320;7532202;6762376;6500557;6183692;6178110;6171735;6164984;6162107;6159597;6159584;6159580;6157601;6157094;3667593;1834641;1708818;2414376;16873258;3135963;11337497;10918594;10640778;11987821;3872918;10963806;8805651;12120696;19453261;19380831;19353519;19240061;19201909;19056675;19017994;19017982;19017631;18989459;18823997;18781139;18771559;18715339;18653650;18653385;18641315;18614628;18614013;18611945;18581327;18571728;18437017;18420941;18382694;18381783;18370868;18322185;18272195;18209079;17985330;17968926;17968925;17675303;17652396;17574024;17182689;12089333;7913356;8661419;15481145;9225992;8107259;8083608;16375755;20561040;21288362;18708672;19351494;19449179;19546225;19564073;19564411;19667093;19728309;19758707;19795416;19804729;19833099;19846511;19898481;19934272;20007272;20048166;20127681;20154210;20174559;20181693;20237496;20331378;20404187;20375222;20519382;20711230;20187765;11694501;19416887;20699220;21068253;21040977;21071089;21115688;20844191;20850164;19008854;20518826;8605876;19913121;20538852;20554782;20573816;20574843;20588308;20592282;20628086;21160051;21690236;21764463;21228327;21320124;21325029;21368231;21321205;21276246;21698224;21389130;23284052;23056170;23449998;22938469;21170271;21170385;21129405;21213104;20846052;21652010;21361792;18035482;22192711;21113677;21792910;23518714;22970235;21829730;21886806;21889215;21897875;22383950;22629479;22698399;22222875;22226324;21952237;22072748;21855056;22258259;22278222;22301134;23552410;22842821;22396773;22396801;22112394;21518144;22149411;22442431;21778165;22200507;22293894;22344395;22531926;22951153;22992810;23166786;23396947;22674996;22730532;22745372;22738830;22879913;23008447;22731491;23383510;18389079;19622906;20631305;21886773;22814248;22843696 3456 P01574;Q5VWC9 AB451323;AB451452;ABBA01065178;AL390882;AMYH01019275;BC069314;BC096150;BC096151;BC096152;BC096153;CH471071;EF064725;HB461808;M25460;M28622;NM_002176;V00534;V00535;V00546;V00547 AAA36040;AAC41702;AAH69314;AAH96150;AAH96151;AAH96152;AAH96153;ABK41908;BAG70137;BAG70266;CAA23795;CAA23796;CAA23807;CAA23808;CBA11062;EAW58625;NP_002167;P01574 Hs.93177 1791890;1792098;1792184;1792552;1793284;1796056;2148504;5492547 D9S2016;IFNB1_144;PMC129788P3;PMC136892P1;PMC13914P2;PMC153761P1;PMC204479P2;UniSTS:481607 IFB;IFF;IFNB;MGC96956 IFN-beta;OTTHUMP00000021131;fibroblast interferon;interferon beta;interferon, beta 1 protein-coding ENSG00000171855 5434 00972 147640 VALIDATED 7033465 IFNL3P1 interferon, lambda 3 pseudogene 1 19 39727244 39727939 - 100421129 ABBA01040723;AC011445;AMYH01009791;NG_024181 IL28BP1 APPROVED pseudo 44483 INFERRED 7207191 IFNL4 interferon, lambda 4 (gene/pseudogene) q13.2 23291588 101180976 K9M1I6;K9M1U5 JN806225;JN806226;JN806227;JN806228;JN806229;JN806230;JN806231;JN806232;JN806233;JN806234;NM_001276254;NR_074079 AFQ38550;AFQ38551;AFQ38552;AFQ38553;AFQ38554;AFQ38555;AFQ38556;AFQ38557;AFQ38558;AFQ38559;K9M1U5;NP_001263183 Hs.745579 IFNAN IFN-lambda-4;interferon lambda-4;interferon, lambda 4 (gene/pseudogene) protein-coding 44480 615090 VALIDATED 1351993 IFNL2 interferon, lambda 2 This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] 19 19 q13.13 44450997 44452572 + 39759157 39760732 + 1580863;6907045 21145813;22962576;19304895;19193806;17367910;16618774;16539846;16478884;16413080;16146571;16051921;15899585;15850793;12483210;12477932;12469119;20576307;19798076;20235331;21170333;21499846;22825757;22253847;22891284 282616 Q45KQ8;Q8IZJ0 ABBA01040724;AC011445;AMYH01009791;AY129148;AY184373;AY336715;BC113581;BC113583;CH471126;CS055921;CS183953;CS364714;DQ126336;DQ126337;FB742068;GM040592;HI658878;HI659149;NM_172138 AAI13582;AAI13584;AAN28263;AAN86126;AAR24510;AAZ38827;AAZ38828;CAI75182;CAJ41835;CAL33801;CAS97663;CAT02301;CBY45347;CBY45407;EAW56870;NP_742150;Q8IZJ0 Hs.567792 1746493;1783784;5492455;5493279 G64446;SHGC-111908;UniSTS:481128;UniSTS:485588 IL-28A;IL28A IFN-lambda-2;cytokine Zcyto20;interferon lambda 2;interferon lambda-2;interferon-lambda 2;interleukin 28A (interferon, lambda 2);interleukin-28A APPROVED protein-coding ENSG00000183709 18364 09586 607401 REVIEWED 2303318 IFNNP1 interferon, nu 1, pseudogene 9 9 9 p21.3 20997038 20997590 - 21058770 21059322 - 21058770 21059322 - 15922016 654783 ABBA01065178;AL390882;AMYH01019275;NG_009495 APPROVED pseudo 32009 INFERRED 1346971 IFNP23 interferon pseudogene 23 3464 5445 1350385 IFNP24 interferon pseudogene 24 8001965 3465 5446 737487 IFNG interferon, gamma This gene encodes a member of the type II interferon family. The protein encoded is a soluble cytokine with antiviral, immunoregulatory and anti-tumor properties and is a potent activator of macrophages. Mutations in this gene are associated with aplastic anemia.[provided by RefSeq, Nov 2009] 12 12 q14 66834817 66839788 - 68548550 68553521 - 1358738;1331525;1580863;2311489;2311493;2308950;2311498;2311494;2311495;2311491;2311492;2311490;2317258;4145651;4145525;5128479;6480464;5686773;5147915;6893373;6893377;6893452;6893364;6893369;6893461;727266;6893374;6893456;6893463;6893460;6893353;6893462;6893349;6484113;6907045;7240710;6480432 9818947;15118671;19608431;18644830;19514843;12412757;19575934;19439114;18852529;18789669;19060451;19152246;20817868;20953328;19542437;21537082;20213480;22759859;22495297;21664391;22286547;22764573;22752353;10078962;22613426;21216449;21514417;22906585;22883043;21546865;22906662;21767135 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3458 P01579;Q96LA2 AB451324;AB451453;ABBA01026561;AC007458;AF375790;AF506749;AM903379;AMYH01004559;AY044154;AY255837;AY255839;BC070256;CH471054;CS723354;EF173872;J00219;NG_015840;NM_000619;V00543;X01992;X13274;X62468;X62469;X62470;X62471;X62472;X62473;X62474;X87308 AAB59534;AAH70256;AAK53058;AAK95388;AAM28885;AAP20098;AAP20100;ABM53145;BAG70138;BAG70267;CAA23804;CAA26022;CAA31639;CAA44325;CAA44326;CAA44327;CAA44328;CAA44329;CAA44330;CAA44331;CAP17327;CAQ43129;EAW97180;NP_000610;P01579 Hs.856 1741639;1742785;1792018;1792564;1793184;1793512;2114000;2217474;5022855;5117843;5117845 GDB:181602;GDB:207646;GDB:624768;GDB:624777;IFNG;IFNG_3047;IFNG_mf;PMC135596P1;PMC154023P1;PMC199428P1;PMC22712P3 IFG;IFI IFN-gamma;OTTHUMP00000240111;immune interferon;interferon gamma APPROVED protein-coding ENSG00000111537 5438 00957 147570;607948;609135;609423;609532;613254 REVIEWED 1348657 IFNL3 interferon, lambda 3 This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] 19 19 q13.13 44426112 44427451 - 39734272 39735611 - 1580863;6480464;6907045;7240710 21145813;22336134;22431022;21378537;21447862;21479134;21606533;19304895;18987645;16618774;16539846;16478884;16413080;22641049;23101227;22117591;22298465;22314430;22766768;22263608;22374338;23080496;12483210;12477932;12469119;21402922;20621700;20637200;20648473;20659305;20708617;20723035;20728570;20803561;20804372;21360716;20578254;21038423;19457860;19684573;19749757;19749758;19759533;20060832;20176026;20235331;20346265;20389235;20399780;20434452;20455677;20576307;20887330;20889274;20890887;20924369;20931559;20964522;20977343;21048934;21068134;21070502;20950615;21592993;21080244;21111740;21374656;21254157;21254158;21254179;21254188;21112657;21112660;21129805;21384511;21760886;22168813;22495472;21480318;22591106;22612303;22666430;21257738;22310928;22505587;22509814;22577043;22613000;22634340;22930497;21382156;21146242;21615377;21390311;22460962;22555162;22719902;21612542;21721028;21439960;21600205;21813376;21861317;22966241;22882858;21145800;21413051;21670772;22174846;21466653;21905441;21987611;21501223;21931540;21983945;21900787;21647799;21745278;21898478;22013224;22192885;21674555;21739451;21933876;21147186;21911885;21951981;22027585;22193282;22245236;22257210;22295096;22328925;21692944;21876443;21884517;21889215;22096924;21750736;21354446;21745312;21879313;21974859;22247028;21703198;21703201;22155912;23002361;23090351;22913807;23107586;23121166;23227209;23343781;23382988;23486666;23008132;21618576;21800339;21722179;22108195;22156487;22313623;22411462;22189977;21932415;22046316;22052088;22110669;22180014;22180419;22239156;22277049;22248659;22253715;22253847;22497812;21790472;22234924;22329371;22098416;22285807;22300408;22525303;22200702;23020144;23118858;23133602;23149444;23151203;23266640;22530607;22511448;22543885;22790387;22649509;23159283;23030669;23298311;22324878;23109451;23142377;23225905;21325786;22350701;23121365;23420232;23293195;23301546;22473858;22545770;22943900;22964578;23083820;23323251;22762459;22898703;23147144;23259930;22727259;23173032;22521356;23103287;21861668;22325058;22967712;22986179 282617 Q8IZI9 ABBA01040723;AC011445;AMYH01009791;AY129149;AY184374;AY336714;AY336717;BC130314;BC130316;CH471126;NM_172139 AAI30315;AAI30317;AAN28264;AAN86127;AAQ01561;AAR24509;ADR82849;EAW56869;NP_742151;Q8IZI9 Hs.406744 1746493;1783784;5492461;5493803 G64446;SHGC-111908;UniSTS:481139;UniSTS:494905 IL-28B;IL28B;IL28C IFN-lambda-3;IFN-lambda-4;IL-28C;cytokine Zcyto22;interferon lambda-3;interferon lambda-4;interferon, lambda 3;interferon, lambda 4;interleukin 28B (interferon, lambda 3);interleukin 28C;interleukin-28B;interleukin-28C APPROVED protein-coding ENSG00000197110 18365 09587 607402;609532 REVIEWED 1351291 IFNR interferon production regulator 1906174;1193239 3466 5447 147573 1342707 IFNWP15 interferon, omega 1 pseudogene 15 9 9 9 p22 21116799 21117887 - 21168588 21169187 - 21178509 21179597 - 4057246;3857460;1385305 100130866 ABBA01065178;AL512606;AMYH01019275;K03013;NG_001150 APPROVED pseudo 5449 INFERRED 1345875 IFNWP19 interferon, omega 1 pseudogene 19 9 9 9 p22 21393750 21394379 + 21445337 21446166 + 21455438 21456067 + 15233997;1385305 3474 ABBA01065176;AL353732;AMYH01019275;NG_005641 APPROVED pseudo 5451 INFERRED 1349798 IFNWP2 interferon, omega 1 pseudogene 2 9 9 9 p21.3 21358546 21359125 + 21406504 21411148 + 21420233 21420812 + 15233997;8001965 646581 ABBA01065176;AL353732;AMYH01019275;NG_011585 1786910 SHGC-111582 APPROVED pseudo 5452 INFERRED 1316782 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008] 21 21 q22.11 33697072 33731696 + 34775202 34809828 + 1580863;6480464;6907045;7240710 9616207;8124716;16780588;8910544;19258923;19247692;19172849;19141860;19012493;18676680;18633131;18620489;18249187;17703412;17697357;17618444;17546485;17220333;16944293;16885196;16867043;16690980;16467883;16467876;16115485;15979955;15952126;15924140;15585559;15489334;15182327;15004750;14651967;12477932;12420205;12020266;11679576;11585785;11240951;10830953;7673114;7514165;3136170;2141727;15103018;16670301;19170196;19269302;19505916;19625176;19657228;19692168;19789190;19948975;20039824;20237496;20378664;20452482;20453000;20503287;8349631;8631301;20952689;20959405;20980339;19913121;20554027;20587546;20588308;20628086;20673868;20709103;23161749;21988832;22057826;22219326;19322201;22634764;22936669;23128233;23251661 3460 A8K881;B5MCZ0;E7EUY1;F8WE34;F8WF11;H7C1V5;P38484 ABBA01057340;ABBA01057341;ABBA01057342;AI824138;AK292246;AK314005;AMYH01012210;AMYH01012211;AP000299;AP000300;AY644470;BC003624;BG391103;BQ008968;CB992729;CH471079;EF173886;JA738573;NG_007570;NM_005534;U05875;U05877;U68755 AAA16955;AAA16956;AAC52066;AAH03624;AAT45458;ABM53159;ABM83246;ABM86448;BAF84935;BAG36717;CCF76939;EAX09834;EAX09835;NP_005525;P38484 Hs.634632 1660495;1685139;1767113;1767264;1796058;1799174;1800496;1801020;1801432;1802364;1805316;1810476;1816540;1820772;1826876;1827034;1827392;1827724;1828522;1829210;1829612;1830290;1830530;1832116;1833314;1834610;1838316;1841078;1842722;1843036;1843722;1845890;1846460;2028208;2028210;2028212;2028214;2028216;2028218;2028220;2028222;2028224;2028226;2028228;2028230;2028232;2028234;2028236;2028238;2028240;2028242;2028244;2028246;2028248;2028250;2028252;2028254;2028256;2028258;2028260;2028262;2028264;2028266;2028268;2028270;2028272;2028274;2028276;2028278;2028280;2028282;2028284;2028286;2028288;2028290;2028292;2028294;2028296;2028298;2028300;2028302;2028304;2028306;2028308;2028310;2028312;2028314;2028316;2028318;2028320;2028322;2028324;2028326;2028328;2028330;2028332;2028334;2028336;2028338;2028340;2028342;2028344;2028346;2028348;2028350;2028352;2028354;2028356;2028358;2028360;2028362;2028364;2028366;2028368;2028370;2028372;2028374;2028376;2028378;2028380;2028382;2028384;2028386;2028388;2028390;2028392;2028394;2028396;2028398;2028400;2028402;2028404;2028406;2028408;2028410;2028412;2028414;2028416;2028418;2028420;2028422;2028424;2028426;2028428;2028430;2028432;2028434;2028436;2028438;2028440;2028442;2028444;2028446;2028448;2028450;2028452;2028454;2028456;2028458;2028460;2028462;2028466;2028468;2028470;2028472;2028474;2028476;2028478;2028480;2028482;2028484;2028486;2028488;2028490;2028492;2028494;2028496;2101172;2101174;2101176;2101178;2101180;2101182;2101184;2101186;2101188;2101190;2101192;2101194;2101196;2101198;2101200;2101202;2101204;2101206;2101208;2101210;2101212;2101214;2101216;2101218;2101220;2101224;2101226;2145910;2164658 D21S1987;ECD00433;ECD01108;ECD01376;ECD01590;ECD02066;ECD03605;ECD06231;ECD09312;ECD11461;ECD14553;ECD14632;ECD14812;ECD14984;ECD15388;ECD15732;ECD15937;ECD16279;ECD16400;ECD17196;ECD17800;ECD18453;ECD20332;ECD21732;ECD22568;ECD22726;ECD23072;ECD24164;ECD24450;IFNGR2_1464;REN85108;REN85109;REN85110;REN85111;REN85112;REN85113;REN85114;REN85115;REN85116;REN85117;REN85118;REN85119;REN85120;REN85121;REN85122;REN85123;REN85124;REN85125;REN85126;REN85127;REN85128;REN85129;REN85130;REN85131;REN85132;REN85133;REN85134;REN85135;REN85136;REN85137;REN85138;REN85139;REN85140;REN85141;REN85142;REN85143;REN85144;REN85145;REN85146;REN85147;REN85148;REN85149;REN85150;REN85151;REN85152;REN85153;REN85154;REN85155;REN85156;REN85157;REN85158;REN85159;REN85160;REN85161;REN85162;REN85163;REN85164;REN85165;REN85166;REN85167;REN85168;REN85169;REN85170;REN85171;REN85172;REN85173;REN85174;REN85175;REN85176;REN85177;REN85178;REN85179;REN85180;REN85181;REN85182;REN85183;REN85184;REN85185;REN85186;REN85187;REN85188;REN85189;REN85190;REN85191;REN85192;REN85193;REN85194;REN85195;REN85196;REN85197;REN85198;REN85199;REN85200;REN85201;REN85202;REN85203;REN85204;REN85205;REN85206;REN85207;REN85208;REN85209;REN85210;REN85211;REN85212;REN85213;REN85214;REN85215;REN85216;REN85217;REN85218;REN85219;REN85220;REN85221;REN85222;REN85223;REN85224;REN85225;REN85226;REN85227;REN85228;REN85229;REN85230;REN85231;REN85232;REN85233;REN85234;REN85235;REN85237;REN85238;REN85239;REN85240;REN85241;REN85242;REN85243;REN85244;REN85245;REN85246;REN85247;REN85248;REN85249;REN85250;REN85251;REN85252;RH17977;RH80707;SHGC-12906;SHGC-52146;SHGC-87557;stSG607135;stSG607137;stSG607138;stSG607140;stSG607141;stSG607142;stSG607143;stSG607144;stSG607145;stSG607146;stSG607147;stSG607148;stSG607149;stSG607150;stSG607151;stSG607152;stSG607154;stSG607155;stSG607156;stSG607157;stSG607158;stSG607159;stSG607160;stSG607161;stSG607162;stSG607164;stSG607165 AF-1;IFGR2;IFNGT1 IFN-gamma receptor 2;IFN-gamma-R2;OTTHUMP00000067750;OTTHUMP00000067751;OTTHUMP00000198130;interferon gamma receptor 2;interferon gamma receptor accessory factor 1;interferon gamma receptor accessory factor-1;interferon gamma receptor beta chain;interferon gamma transducer 1 APPROVED protein-coding ENSG00000159128 5440 00956 147569;209950 REVIEWED 1349149 IFNWP4 interferon, omega 4 (pseudogene) 3469 5453 1353743 IFNWP5 interferon, omega 1 pseudogene 5 9 9 9 p21.3 21169125 21170157 - 21220777 21221852 - 21230820 21231852 - 19373437;8001965 392292 ABBA01065178;AL162420;AMYH01019275;NG_016582 APPROVED pseudo 5454 INFERRED 1347142 IFNL1 interferon, lambda 1 This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008] 19 19 q13.13 44478805 44481152 + 39786965 39789312 + 1580863;6907045;6480464 21145813;12469119;16014923;15166220;15899585;12483210;19304895;19193806;19155475;18830264;18757365;18698163;18281438;17367910;17252004;17082759;16618774;16539846;16478884;16051921;15850793;15489334;12477932;21957142;21398614;20934432;20103601;19759281;19798076;20057073;20060832;20592090;21040977;20337614;21075852;20309637;21190998;19346497;20726961;21170333;21499846;22072783;21816185;22058416;22135341;21800339;21679442;21847628;23218741;23258595;23151616;22701693;22249201;22891284 282618 Q8IU54 ABBA01040724;AC011445;AMYH01009791;AY129150;AY184372;AY336716;BC074985;BC117482;BC126183;CH471126;CS055923;CS183955;CS364716;CS443042;CS443044;FB742070;GM040594;GM615402;GM615404;HC206738;HC206740;HI658880;HI659151;HQ214053;JF268782;NM_172140 AAH74985;AAI17483;AAI26184;AAN28265;AAN86125;AAR24511;ADO12077;ADR82839;AEV89427;CAI75183;CAJ41836;CAL33802;CAL68893;CAL68894;CAS97664;CAT00937;CAT00938;CAT02302;CBI85489;CBI85490;CBY45348;CBY45408;EAW56871;NP_742152;Q8IU54 Hs.406745 IL-29;IL29 IFN-lambda-1;cytokine Zcyto21;interferon lambda-1;interferon, lambda 1;interferon-lambda-1;interleukin 29 (interferon, lambda 1);interleukin-29 APPROVED protein-coding ENSG00000182393 18363 09588 607403 REVIEWED 1349807 IFNGR1 interferon gamma receptor 1 This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008] 6 6 q23.3 137560315 137582200 - 137518621 137540567 - 1624283;1580863;6480255;6480431;6480259;4144122;6480268;6480271;4892610;6480429;6480464;6484113;6907045;7240710 8960473;21737883;12851715;21458658;19575238;21266457;20655098;20808962;15589309 2971451;2954953;19247692;19172849;19141860;18953482;18931463;18809513;18702743;18676680;18633131;18620489;18593809;18555234;18548239;18414508;18287876;17986123;17697357;17618444;17572155;17546485;17513528;17477815;17431682;17392024;17348823;17339358;17251453;17166914;17152005;17136124;17030574;17023216;16944293;16867043;16785527;16690980;16563189;16491350;16476014;15756299;15527154;15522878;15494521;15489334;15207788;15182327;15047947;15004750;14763782;14734726;14574404;12753505;12743658;12543882;12516030;12477932;12454749;12438563;12244188;12165521;12133952;12034035;12027427;12023780;12020266;11865431;11857344;11585785;11438544;11240951;11139207;10986460;10811850;10192386;10022928;9389728;16233916;16115485;15952126;9367779;9112336;8960475;8889548;8500521;8456300;8443182;8156998;8136357;8125298;7673114;7617032;7514165;7499845;2532616;1826725;10415122;19913121;20587546;20588308;20628086;20673868;20677014;20799037;11250200;19170196;19269302;19279332;19488747;19625176;19681704;19692168;19712753;19723394;19734231;19739012;19948975;20015550;20055726;20070287;20196868;20237496;20331378;20399512;20412699;20452482;20453000;20500698;8631301;20959405;20980339;21460021;21190998;22644879;10848598;21722521;21859832;21221749;21963094;23000965;22595141;22711893;21689637;22564607;21731057;21139048;21890473;21906983;22318606;23040881;22505724 3459 B4DFT7;F5H5M7;P15260;Q5TFC9;Q5TFD1 ABBA01025818;AF056979;AJ490331;AK127636;AK222803;AK294252;AK297052;AK312674;AL050337;AMYH01016700;AMYH01016701;AY594694;BC005333;BT006814;BU674317;CH471051;DC349115;EF173879;EF535103;J03143;NG_007394;NM_000416;U19247 AAA52731;AAC52064;AAH05333;AAK30623;AAP35460;AAS89302;ABM53152;ABQ00413;BAD96523;BAG35556;BAG57548;BAG59578;CAD35933;EAW47931;EAW47932;NP_000407;P15260 Hs.520414 1645996;1649382;1660060;1847275;2117329;5037552 D6S1835;D6S2065;D6S2101;D8S2279;RH12511;RH15671 CD119;FLJ45734;IFNGR AVP, type 2;CD119 antigen;CDw119;IFN-gamma receptor 1;IFN-gamma-R1;OTTHUMP00000017285;OTTHUMP00000017286;antiviral protein, type 2;immune interferon receptor 1;interferon gamma receptor 1;interferon-gamma receptor alpha chain APPROVED protein-coding ENSG00000027697 5439 00127 107470;209950;600263;607948;610424 REVIEWED 1343854 IFNWP9 interferon, omega 1 pseudogene 9 9 9 9 p21.3 21128443 21129542 - 21180188 21181243 - 21190145 21191243 - 1385305;1385305;8001965 100130671 ABBA01065178;AL512606;AMYH01019275;NG_016396 APPROVED pseudo 5455 INFERRED 1342493 IFNWP18 interferon, omega 1 pseudogene 18 9 9 9 p22 21147489 21148195 - 21198931 21199356 - 21209191 21209898 - 15489334;9425112;8910771;6397400;6181262;4057246;2995168;1385305 360001 ABBA01065178;AL512606;AMYH01019275;NG_002922;V00531 1653483;1741627;1796044 GDB:181595;IFNA10_134;RH47035 LEIF-M APPROVED pseudo 5450 INFERRED 1603554 IFNLR1 interferon, lambda receptor 1 The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 p36.11 24353234 24386338 - 24480647 24513765 - 6480464;6907045 12483210;12469119;19240061;16819289;16618774;15231747;15166220;14702039;12521379;12477932;1248321;20953190;20934432;19724244;19798076;20057073;20237496;15146197;21742059;22386267;22891284 163702 Q5VTX9;Q8IU57 ABBA01059899;AF439325;AJ534330;AJ534331;AK160364;AL590683;AMYH01000369;AY129151;AY129152;AY129153;BC101407;BC101408;BC101975;BC139722;BC140872;CH471134;CN289861;CS183947;GM662570;JN591376;NM_170743;NM_173064;NM_173065 AAI01409;AAI01976;AAI39723;AAI40873;AAN28266;AAN28267;AAN28268;AAN63632;AEX60805;BAD18707;CAD58829;CAD58830;CAJ41832;CAV33829;EAW95113;EAW95114;EAW95115;EAW95116;EAW95117;EAW95118;NP_734464;NP_775087;NP_775088;Q8IU57 Hs.221375 1335113;1698686;1762959;2125233;2161819;5015619;5037552;5109281 D11S3114;D1S1152;D1S1425;D8S2279;RH102903;SHGC-146707;SHGC-56802;SHGC-56929 CRF2/12;IFNLR;IL-28R1;IL28RA;LICR2 CRF2-12;IFN-lambda receptor 1;IFN-lambda-R1;IL-28 receptor subunit alpha;IL-28R-alpha;IL-28RA;OTTHUMP00000003067;OTTHUMP00000003068;OTTHUMP00000003069;OTTHUMP00000003070;class II cytokine receptor CRF2/12;cytokine receptor class-II member 12;cytokine receptor family 2 member 12;interferon lambda receptor 1;interferon lambda, receptor 1;interleukin 28 alpha receptor;interleukin 28 receptor A;interleukin 28 receptor, alpha (interferon, lambda receptor);interleukin or cytokine receptor 2;interleukin-28 receptor subunit alpha;likely interleukin or cytokine receptor 2 APPROVED protein-coding ENSG00000185436 18584 09589 607404 REVIEWED 1602869 IFRG15 interferon responsive gene 15 1 q25.2 178100539 178100934 - 6480464 12477932 64163 AJ299406;AK289793;AL359853;BC032790;BC096704;BC098170;BC098309;BC098348;CH471067;NM_022347 AAH32790;AAH96704;AAH98170;AAH98309;AAH98348;BAF82482;CAC13974;EAW91065;NP_071742;Q9H496 Hs.655655;Hs.716051 MGC120074;MGC120077 protein-coding 17135 1350481 IFNW1 interferon, omega 1 9 9 p22 21130631 21132144 - 21140631 21142144 - 1580863;6480464;6907045 1647209;10835682;16504056;15621727;15489334;15340161;12477932;3895159;2985969;1834641;1693148;1385305;12089333;7913356;20237496;20331378;19863576;20574843;20588308;20677014;21832049;21854986;22192711 3467 P05000 A12140;ABBA01065178;AL390882;AMYH01019275;AY780805;BC069095;BC117290;BC117292;CH471071;CQ847553;GM863571;HH960130;M11003;NM_002177;U25670;X02669;X58822 AAA52724;AAA70091;AAH69095;AAI17291;AAI17293;AAV49320;ADR82862;CAA01011;CAA26501;CAA41626;CAH18028;CAT16479;CBX51309;EAW58624;NP_002168;P05000 Hs.73010 1653420;1796060;5492761;5493715 D9S1967;IFNW1_147;UniSTS:482401;UniSTS:491186 IFN-omega 1, interferon omega-1;OTTHUMP00000021133;interferon alpha-II-1;interferon omega-1 protein-coding ENSG00000177047 5448 00944 147553 PROVISIONAL 1320999 IFRD2 interferon-related developmental regulator 2 3 3 3 p21.3 50297995 50302857 - 50300124 50304923 - 50325163 50330026 - 1580863;6480464 9050919;16303743;15489334;14702039;12477932;11085536;9722946;19615732;20689807;21832049;21044950;21903422;19953087;21139048 7866 F8WEI6;H7C2Z4;H7C444;Q12894;Q9UJ88 ABBA01024552;AI292274;AK074763;AK097765;AK309114;AMYH01013168;BC001327;BC001676;BC007265;BC007437;BI825477;BT019999;CH471055;NM_006764;U09585;U73167;U90094;Y12395 AAC02728;AAC16924;AAH01327;AAH01676;AAH07265;AAH07437;AAV38802;ACE87031;ACE87717;BAG51999;CAA73027;EAW65069;EAW65070;NP_006755;Q12894 Hs.315177;Hs.743323 1678967;1684152;2108165;2157644;2219154 HYAL3__6618;IFRD2_8768;RH76408;RH80851;SHGC-76999 FLJ40446;IFNRP;SKMc15;SM15 OTTHUMP00000211049;OTTHUMP00000211050;interferon-related developmental regulator 2;interferon-related protein protein-coding ENSG00000214706 5457 04101 602725 VALIDATED 1349473 IFT122 intraflagellar transport 122 homolog (Chlamydomonas) This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 3 3 3 q21 127585804 127666027 + 130641658 130721881 + 129158968 129239191 + 6480464;7240710 20493458;16344560;14702039;12477932;11242542;8125298;16751776;18029348;21890473;21906983;22190034;22505724 55764 B4DEY9;D6R8Z2;D6RAF7;D6RIB5;E7EQF4;E9PDG2;H0Y8I2;H0Y978;H0Y9E1;H0Y9E5;H0Y9I6;H0Y9Q2;H0Y9Y9;H0YAG6;H0YAG9;H7C3C0;Q9HBG6;Q9NV68 ABBA01059227;ABBA01059228;ABBA01059229;ABBA01059230;ABBA01059231;AC080007;AF244930;AF244931;AF302154;AK000773;AK001759;AK001955;AK022525;AK023000;AK024435;AK057162;AK093440;AK094922;AK096891;AK122965;AK124140;AK223095;AK293852;AK294515;AK298526;AK299903;AK307463;AK315103;AL133565;AL449212;AL833851;AMYH01013476;AU123134;BC003045;BC004238;BC028353;BF941125;CH471052;DB099554;DB516647;DC343174;DQ589812;NG_023392;NM_001280541;NM_001280545;NM_001280546;NM_018262;NM_052985;NM_052989;NM_052990 AAG13415;AAG15427;AAG15428;AAH03045;AAH04238;AAH28353;ACE87036;ACE87720;BAA91888;BAA92000;BAB14077;BAB15725;BAD96815;BAG51146;BAG52955;BAG53393;BAG53823;BAG54015;BAG57250;BAG57728;BAG60729;BAG61744;CAB63718;CAD38710;EAW79245;EAW79246;EAW79247;EAW79248;EAW79249;EAW79250;NP_001267470;NP_001267474;NP_001267475;NP_060732;NP_443711;NP_443715;NP_443716;Q9HBG6 Hs.655284 1655572;2124713;2151152;5014051;5022651;5037552;5109623 D11S2921;D3S2907E;D8S2278;D8S2279;RH16296;RH45232;SHGC-34629 CED;CED1;SPG;WDR10;WDR10p;WDR140 OTTHUMP00000215608;OTTHUMP00000215609;OTTHUMP00000215610;OTTHUMP00000215611;OTTHUMP00000215613;OTTHUMP00000222388;WD repeat domain 10;WD repeat-containing protein 10;WD repeat-containing protein 140;intraflagellar transport protein 122 homolog APPROVED protein-coding ENSG00000163913 13556 06922 218330;606045 REVIEWED 731569 IFT172 intraflagellar transport 172 homolog (Chlamydomonas) 2 2 2 p23.3 27513414 27558746 - 27520744 27566075 - 27667240 27712571 - 6480464;6484113 10788441;14702039;12477932;10574461;20383146;20705733;20379614;21987572;21139048;21890473;21906983;22318606;21963094;23505323 26160 A5PKZ0;B3KP68;F5GZ56;H0YAI8;H7C161;H7C186;H7C252;Q9UG01 AB033005;ABBA01045208;AC074117;AK055826;AK299576;AK304658;AK310417;AL110218;AL117421;AMYH01010197;BC008024;BC014849;BC038461;BC047294;BC137126;BC142675;BC142729;BC144491;CH471053;NM_015662 AAH08024;AAH47294;AAI37127;AAI42676;AAI42730;BAA86493;BAG51580;BAG61513;BAG65433;CAB53678;CAB55914;EAX00571;EAX00572;EAX00573;EAX00574;EAX00575;NP_056477;Q9UG01 Hs.127401 1768936;5022578;5037552;5124970;5491695 D1S1423;D2S1979;D8S2279;MARC_8083-8084:996688275:1;RH92034 DKFZp434A163;KIAA1179;SLB;osm-1;wim OTTHUMP00000158532;intraflagellar transport protein 172 homolog;selective LIM binding factor homolog;wimple homolog protein-coding ENSG00000138002 30391 09576 607386 VALIDATED 1605413 IFT140 intraflagellar transport 140 homolog (Chlamydomonas) This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012] 16 16 16 p13.3 1772703 1874383 - 1500431 1597299 - 1560428 1662109 - 6480464 15489334;14702039;12477932;12421765;11157797;9628581;20936779;21900206;22282595;21890473;21906983;22503633;22505724 9742 H3BNC5;H3BTA5;I3L0Y8;J3KPW0;Q96RY7;Q9UG52 AB011162;AB209020;ABBA01030301;ABBA01030302;ABBA01030303;ABBA01030304;ABBA01030305;AE006467;AE006639;AK001168;AK001797;AK055133;AK299035;AK299115;AL031705;AL031719;AL031720;AL080069;AL133297;AMYH01007036;AMYH01007037;AMYH01007038;AW245075;BC035577;CH471112;DC401677;NG_032783;NM_014714;Z97633;Z97652 AAH35577;AAK61285;AAK61287;BAA25516;BAD92257;BAG51475;BAG61110;BAG61170;CAB45696;EAW85642;EAW85643;EAW85644;NP_055529;Q96RY7 Hs.389438 1335779;1685554;2120328 D16S3024;RH93126;STS-AA025090 DKFZp564L232;FLJ10306;FLJ30571;KIAA0590;MZSDS;WDTC2;c305C8.4;c380F5.1;gs114 OTTHUMP00000158737;WD and tetratricopeptide repeats 2;WD and tetratricopeptide repeats protein 2;intraflagellar transport protein 140 homolog APPROVED protein-coding ENSG00000187535 29077 11093 266920;614620 REVIEWED 69163 IFRD1 interferon-related developmental regulator 1 This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 7 7 q31.1 111850462 111903483 + 112063199 112117258 + 729090;1580863;6480464 9722946 7756174;19409521;19242412;16204248;15743821;15489334;12878157;12853948;12691737;12690205;12477932;12198164;12107410;9822615;8889548;8125298;8028043;2797820;2467301;16169070;20080976;20195544;20400778;17207965;21127072;21555518;7809103;21723850;12665168;21139048;21890473;21903422;22959728;23043087 3475 A4D0U1;C9J311;C9J7U6;C9JA65;C9JFH1;C9JK78;C9JLG5;C9JNM6;E9PMY4;H0YEE3;O00458 AACC02000001;AACC02000002;ABBA01057846;ABBA01057847;ABBA01057848;AC002459;AC005192;AC079741;AK225222;AK297509;AK298894;AK308066;AK313211;AK315967;AMYH01017861;AU280361;BC001272;BF061555;BI915700;BT019889;BT019890;BX648799;CA389949;CA503278;CH236947;CH471070;DC314572;DC352698;NG_027799;NM_001007245;NM_001197079;NM_001197080;NM_001550 AAC24562;AAH01272;AAS02003;AAS02004;AAS07421;AAV38692;AAV38693;ADQ31820;BAH12596;BAH12897;BAH14338;EAL24375;EAW83462;EAW83463;NP_001007246;NP_001184008;NP_001184009;NP_001541;O00458 Hs.7879 1696842;1698806;1710604;2171366;2171368;2177601 A001W15;G19708;G49165;RH102966;RH11542;SHGC-83988 PC4;TIS7 12-O-tetradecanoylphorbol-13-acetate-induced sequence 7;OTTHUMP00000207275;OTTHUMP00000207380;TPA induced sequence 7;interferon-related developmental regulator 1;nerve growth factor-inducible protein PC4;pheochromocytoma cell-4 APPROVED protein-coding 5456 04612 603502 REVIEWED 1605017 IFT20 intraflagellar transport 20 homolog (Chlamydomonas) This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012] 17 17 17 q11.2 23517095 23524237 - 23679480 23686622 - 26655351 26662515 - 6480464 15337773;16189514;16775004;15489334;14672413;12821668;12477932;9110174;8619474;16751776;17207965;17043677;20360068;12107411;19855387;20106869;21139048;20158880;21307337;21490950 90410 J3KRU2;J3QR43;J3QRC6;J3QRH2;Q8IY31 AA490722;ABBA01015060;AC002094;AF070643;AI768816;AK297769;AK309232;AL713094;AMYH01008277;AY224601;BC002640;BC038094;BE619475;BQ639919;CH471159;DQ599851;NM_001267774;NM_001267775;NM_001267776;NM_001267777;NM_001267778;NM_174887 AAH02640;AAH38094;AAP50265;ADQ32813;ADZ15705;BAH12662;EAW51070;EAW51071;EAW51072;EAW51073;EAW51074;EAW51075;EAW51076;NP_001254703;NP_001254704;NP_001254705;NP_001254706;NP_001254707;NP_777547;Q8IY31 Hs.705431;Hs.744033 1338603;1670029;1677808;1682766;1754015;1855376;2126013;5022578 D17S1824;D1S1423;D20S1105;RH17628;RH24980;SHGC-11786;SHGC-132058;UniSTS:21338 hIFT20;intraflagellar transport protein 20 homolog;intraflagellar transport protein 20-like;intraflagellar transport protein IFT20 APPROVED protein-coding ENSG00000109083 30989 17137 614394 REVIEWED 1318628 IFT27 intraflagellar transport 27 homolog (Chlamydomonas) This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 22 22 22 q13.1 20952197 20970124 - 35484201 35502060 - 37154246 37172177 - 1580863;6480464 15489334;15461802;12529303;12477932;10591208;16189514;17276912;8889548;16751776;22939629;14702039;22022256 11020 B1AH56;B1AH58;E9PE51;F5GZ09;H0Y6C7;Q9BW83 AA809074;AB209424;ABBA01055450;AI215119;AK090708;AK307105;AK307382;AL022729;AMYH01012753;AW236857;BC000566;BM711121;BT006815;BX537634;CH471095;CR456558;DB457924;DB502180;NM_001177701;NM_006860;NR_033531;Z80897 AAH00566;AAP35461;BAD92661;CAA18787;CAG30444;CAK54589;CAK54888;EAW60114;EAW60115;EAW60116;EAW60117;NP_001171172;NP_006851;Q9BW83 Hs.415172 1657538;2144018;2151025 RH45587;STS-T69764;WI-15209 DKFZp686M22208;FLJ33389;RABL4;RAYL OTTHUMP00000197792;OTTHUMP00000197793;OTTHUMP00000197795;OTTHUMP00000197796;RAB, member of RAS oncogene family-like 4;intraflagellar transport protein 27 homolog;putative GTP-binding protein RAY-like;rab-like protein 4 APPROVED protein-coding ENSG00000100360 18626 REVIEWED 1604332 IFT46 intraflagellar transport 46 homolog (Chlamydomonas) 11 11 11 q23.3 115576037 115597575 - 117920468 117941960 - 118415243 118436791 - 6480464 11256614;10873569;17720815;16381901;15489336;15489334;12477932;11230166;11076863;16344560;19253336;22939629;21139048 56912 E9PIM8;E9PKW0;E9PMR8;E9PR06;E9PRT0;E9PSB9;Q9NQC8 ABBA01039703;ABBA01039704;ABBA01039705;AJ249980;AK025480;AK289521;AL136934;AMYH01004071;AP000941;BC011647;BC012802;BC022856;CH471065;CR457344;DA251912;NM_001168618;NM_020153 AAH11647;AAH12802;AAH22856;BAB15146;BAF82210;CAB66868;CAB96537;CAG33625;CAL37908;CAL38565;EAW67394;EAW67395;EAW67396;NP_001162089;NP_064538;Q9NQC8 Hs.533738 1671633;1676272;1733198;1736182;1749757;7184853 D11S1954E;D11S2305E;RH91715;SHGC-111513;WI-12265 C11orf2;C11orf60;FLJ21827 OTTHUMP00000232826;OTTHUMP00000232827;OTTHUMP00000232828;UPF0360;intraflagellar transport protein 46 homolog;intraflagellar transport protein IFT46 APPROVED protein-coding ENSG00000118096 26146 07967 VALIDATED 1314279 IFT57 intraflagellar transport 57 homolog (Chlamydomonas) 3 3 q13.13 109362349 109423938 - 107879659 107941417 - 1580863;6480464;6907045 11788820;18188704;17173859;17142908;16364650;16344560;15314642;14702039;12821668;12745083;12477932;11807533;9140394;16169070;21832040;21943362;21139048;21906983;14502241 55081 C9JB84;F8WBM2;Q9NWB7 AB014762;ABBA01061707;AC012020;AC078855;AC133475;AF139576;AF245220;AK001009;AK298854;AMYH01013381;BC009690;BC011899;CH471052;CR457251;DA362330;NM_018010 AAH09690;AAH11899;AAK13588;AAK28373;ABM83976;ABM87297;BAA91466;BAB87803;BAG60977;CAG33532;EAW79730;NP_060480;Q9NWB7 Hs.412196 1773583;1776489;1797508;1849840;2127491;2140536;2142978;5491497 A004O21;D3S2909E;ESRRBL1_2148;G31059;MARC_15991-15992:1016824593:1;SHGC-17270;WI-12443;WIAF-2547 ESRRBL1;FLJ10147;HIPPI;MHS4R2 HIP1 protein interactor;HIP1-interacting protein;OTTHUMP00000214395;dermal papilla-derived protein 8;estrogen-related receptor beta like 1;estrogen-related receptor beta-like protein 1;huntingtin interacting protein-1 interacting protein;intraflagellar transport protein 57 homolog protein-coding ENSG00000114446 17367 09430 606621 VALIDATED 1347418 IGAD1 immunoglobulin A (IgA) deficiency susceptibility 1 7240710 10090895 10986 5459 1322228 IFT52 intraflagellar transport 52 homolog (Chlamydomonas) 20 20 20 38927043 38983324 + 41652993 41709276 + 42219579 42275862 + 6480464 15489334;14702039;12477932;11780052;11549316;11337467;10810093;21906983;22797925 51098 Q9Y366 ABBA01052621;ABBA01052622;AF151811;AK001436;AK301915;AL121886;AMYH01011925;AU100321;BC039831;CH471077;NM_016004;Z98752 AAD34048;AAH39831;ADZ15601;BAG50913;BAG63339;EAW75953;EAW75954;NP_057088;Q9Y366 Hs.444332 1656214;1668457;1754857;2156450 AL023481;AL031488;SHGC-141781;SHGC-36858 C20orf9;CGI-53;NGD2;NGD5;dJ1028D15.1 OTTHUMP00000031034;OTTHUMP00000031035;chromosome 20 open reading frame 9;intraflagellar transport protein 52 homolog;protein NGD5 homolog protein-coding ENSG00000101052 15901 12789 VALIDATED 6481343 IGBP1-AS1 IGBP1 antisense RNA 1 100873991 AL139111 APPROVED miscrna 40295 1353136 IGBP1P1 immunoglobulin (CD79A) binding protein 1 pseudogene 1 14 14 14 q13.2 15272959 15273531 + 34478879 34479453 + 35409128 35409702 + 15820313 280655 ABBA01061491;AL049776;AMYH01005663;AY168620;NR_002937 Hs.639271 1788728 RH135891 C14orf19 APPROVED pseudo ENSG00000226677 19709 VALIDATED 5683681 IGBP1P2 immunoglobulin (CD79A) binding protein 1 pseudogene 2 17 q22 56737013 56738969 - 11181995 645545 ABBA01041345;ABBA01041346;AC011195;AMYH01008513;CH471109;NG_012738 EAW94435;EAW94436 1787874;1794012 PMC310730P2;SHGC-173542 pseudo 43611 INFERRED 1606252 IFT80 intraflagellar transport 80 homolog (Chlamydomonas) The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] 3 3 3 q25.33 158396141 158538687 - 161457482 161600014 - 159974774 160117320 - 6480464;7240710 18601909;17468754;16641997;14702039;12477932;12421765;10718198;19648123 57560 C9IZR2;C9J627;C9J6G8;C9J6I5;C9JSB1;C9JUI1;C9JUJ1;F8WCB0;H7C4K6;H7C5M3;H7C5P3;Q9P2H3 AB037795;ABBA01058796;ABBA01058797;ABBA01058798;AC024221;AC079594;AK025109;AK055904;AK125342;AK303410;AL133045;AMYH01013614;BC030774;BC036596;BC042027;BC101494;BC113669;CA421514;CH471052;DR000297;NG_022932;NM_001190241;NM_001190242;NM_020800 AAH42027;AAI01495;AAI13670;ADR83267;BAA92612;BAG64463;CAB61372;EAW78643;EAW78644;EAW78645;EAW78646;EAW78647;EAW78648;NP_001177170;NP_001177171;NP_065851;Q9P2H3 Hs.478095 1716381;1761183;1778105;2116782;2181492;5015619;5024039;5037552 D11S3114;D16S325;D3S4120;D8S2279;RH121371;SHGC-145195;SHGC-37245;STS-N68628 ATD2;KIAA1374;MGC126543;WDR56 OTTHUMP00000213728;OTTHUMP00000213729;OTTHUMP00000213730;OTTHUMP00000221710;WD repeat domain 56;WD repeat-containing protein 56;intraflagellar transport protein 80 homolog APPROVED protein-coding ENSG00000068885 29262 13853 611177;611263 REVIEWED 5683696 IGBP1P3 immunoglobulin (CD79A) binding protein 1 pseudogene 3 3 p22.3 32662392 32663392 - 391526 ABBA01024936;AC104306;AMYH01013062;NG_022199 pseudo 43612 INFERRED 5683694 IGBP1P4 immunoglobulin (CD79A) binding protein 1 pseudogene 4 4 q21.22 83322731 83323751 - 391672 ABBA01063432;AC124016;AMYH01014353;NG_022017 pseudo 43613 INFERRED 5683695 IGBP1P5 immunoglobulin (CD79A) binding protein 1 pseudogene 5 4 p15.2 27586772 27587770 + 391642 ABBA01032739;ABBA01032740;AC097380;AMYH01014082;NG_022053 pseudo 43614 INFERRED 1602079 IFT43 intraflagellar transport 43 homolog (Chlamydomonas) This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 14 14 14 q24.3 56490240 56588245 + 75521849 75619845 + 76452096 76550416 + 6480464 18029348;15489334;14702039;12508121;12477932;17207965;21378380;8889548;21890473;21906983 112752 G3V4X2;Q96FT9 ABBA01030689;ABBA01030690;AC008015;AF107885;AK056735;AK302944;AMYH01005862;AW235031;AW439039;BC010436;BC042852;BI821833;BU627157;CB853974;CH471061;DB443802;DB497730;NG_031957;NM_001102564;NM_001255995;NM_052873;NR_045664;NR_045665 AAC79728;AAF03245;AAH10436;ADQ33216;BAG51798;BAG64101;EAW81241;EAW81246;EAW81248;NP_001096034;NP_001242924;NP_443105;Q96FT9 Hs.532626 1657384;1661867;1667733;1727539;1771498;1783138;2115243;2128750;2156292;5093212;5093494 A009J27;A009P39;D14S1348;D14S771;G32586;G32751;G36086;G63027;RH44406;RH45331;SHGC-173313 C14orf179;CED3;FLJ32173;MGC16028 IFT complex A subunit;OTTHUMP00000246605;OTTHUMP00000246607;hypothetical protein LOC112752;intraflagellar transport protein 43 homolog APPROVED protein-coding ENSG00000119650 29669 14449 614068;614099 REVIEWED 1351192 IGES immunoglobulin E concentration, serum 8178175 3478 5463 1342560 IFT74 intraflagellar transport 74 homolog (Chlamydomonas) 9 9 9 p21.2 26875190 26991082 + 26937037 27052931 + 26947037 27062931 + 6480464 8125298;11683410;17383054;16344560;15489334;14702039;12477932;18029348;19322201;21139048;22797925 80173 A0PJM7;E5RGX6;E5RH29;E5RIF0;E5RJK3;Q96LB3 AA888911;ABBA01065133;ABBA01065134;ABBA01065135;AI919195;AK023707;AK026274;AK225570;AL355432;AL356133;AMYH01019295;AY040325;BC023634;BC056875;BC107742;BC113524;BC113526;CH471071;DA617917;DB049275;DB451450;NM_001099222;NM_001099223;NM_001099224;NM_025103 AAH23634;AAI07743;AAI13525;AAK77221;BAB14650;BAB15423;EAW58573;NP_001092692;NP_001092693;NP_001092694;NP_079379;Q96LB3 Hs.145402 1721595;1777739;2152286;2176641 D8S1398E;G59807;STS-Z41378;WI-18307 CCDC2;CMG-1;CMG1;FLJ22621;MGC111562 OTTHUMP00000022772;OTTHUMP00000226593;capillary morphogenesis gene 1 protein;capillary morphogenesis protein 1;coiled-coil domain containing 2;coiled-coil domain-containing protein 2;intraflagellar transport protein 74 homolog protein-coding ENSG00000096872 21424 09727 608040 VALIDATED 1320207 IFT88 intraflagellar transport 88 homolog (Chlamydomonas) This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 13 13 q12.1 20039208 20163576 + 21141208 21265576 + 6480464;6484113 14667819;7633404;17264151;16043481;12477932;11329013;11251073;10462374;10200981;9362446;8597639;8191288;20379614;20713499;20300861;21441926;22939629;22974282;21906983;23064961;22941275 8100 B3KX42;E7EW86;F5H6C2;F6SRW8;Q13099 ABBA01068584;ABBA01068585;ABBA01068586;ABBA01068587;ABBA01068588;ABBA01068589;AK058172;AK126668;AK300769;AK303853;AK308281;AK310223;AL161772;AL590096;AMYH01004948;AMYH01004949;AMYH01004950;BC030776;BC059357;BG182322;BX640833;CH471075;NM_006531;NM_175605;U20362 AAA86720;AAH30776;ABW03295;ABW03641;BAG54354;BAG62434;BAG64794;CAE45907;EAX08266;EAX08267;EAX08268;EAX08269;EAX08270;EAX08271;EAX08272;EAX08273;NP_006522;NP_783195;Q13099 Hs.187376 1667745;1723753;1748415;2108613;2114569;2176463;5015961;5037552 D15S1477;D8S2279;G64212;RH118612;RH65721;SHGC-57879;STS-U20362;TTC10_8779 D13S1056E;DAF19;MGC26259;RP11-172H24.2;TG737;TTC10;hTg737 OTTHUMP00000018099;OTTHUMP00000018100;TPR repeat protein 10;intraflagellar transport protein 88 homolog;polaris homolog;probe hTg737 (polycystic kidney disease, autosomal recessive);recessive polycystic kidney disease protein Tg737 homolog;tetratricopeptide repeat domain 10;tetratricopeptide repeat protein 10 APPROVED protein-coding ENSG00000032742 20606 09000 600595 REVIEWED 1606304 IFT81 intraflagellar transport 81 homolog (Chlamydomonas) 12 12 12 q24.13 110186356 110281972 + 109046565 109140983 + 110562140 110656600 + 6480464 15489334;15342556;14702039;12549821;12477932;11130971;17207965;21832049;22939629;21139048 28981 F8W1J4;H0YHE2;H0YIR4;Q8WYA0 ABBA01005086;ABBA01005087;ABBA01005088;ABBA01005089;ABBA01005090;ABBA01005091;ABBA01005092;ABBA01005093;ABBA01005094;ABBA01005095;AC007546;AC009730;AF078932;AF139540;AF250326;AF332010;AK000874;AK091549;AK291043;AMYH01004738;BC004536;BC005396;BC029349;BC108257;BP351086;CH471054;NM_001143779;NM_014055;NM_031473 AAD48091;AAH04536;AAH05396;AAH29349;AAI08258;AAL50343;AAO32947;AAP97269;ADQ31808;BAC03690;BAF83732;EAW97897;EAW97898;EAW97899;EAW97900;EAW97901;NP_001137251;NP_054774;NP_113661;Q8WYA0 Hs.528382 1677308;1698972 RH103055;RH81042 CDV-1;CDV-1R;CDV1;CDV1R;MGC102777;MGC4027 OTTHUMP00000240812;OTTHUMP00000240813;OTTHUMP00000240814;OTTHUMP00000240815;OTTHUMP00000240816;carnitine deficiency-associated gene expressed in ventricle 1;carnitine deficiency-associated protein expressed in ventricle 1;intraflagellar transport 81-like;intraflagellar transport protein 81 homolog protein-coding ENSG00000122970 14313 09266 605489 VALIDATED 1602692 IGDCC4 immunoglobulin superfamily, DCC subclass, member 4 15 15 15 q22.31 42551953 42593550 - 63460878 63502463 - 65673825 65715410 - 6480464 18029348;12477932;10997877;10708514;20658536 57722 Q8TDY8 AB046848;AB052622;ABBA01038854;AC105129;AK124045;AMYH01006718;BC040648;CH471082;NM_020962 AAI52806;BAB13454;BAB86306;EAW77723;EAW77724;EAW77725;NP_066013;Q8TDY8 Hs.458607 1650390;1707624;1853713;2155270;2155272;2176964;2181688;5092840 A006J15;A006J37;A007C09;G20868;G32363;SHGC-84628;WI-18508;WI-21066 DDM36;FLJ42051;KIAA1628;NOPE OTTHUMP00000164176;hDDM36;immunoglobulin superfamily DCC subclass member 4;likely ortholog of mouse neighbor of Punc E11;neighbor of Punc E11 protein-coding ENSG00000103742 13770 11399 PROVISIONAL 70506 IGF1 insulin-like growth factor 1 (somatomedin C) The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 12 12 q23.2 101313806 101398454 - 102789645 102874378 - 1580477;1580863;1598411;1598413;1598415;1598420;1582623;1598442;1598445;1598446;1598454;1598419;1598421;1598422;1598423;1598424;1598425;1598426;1598427;1624297;1580473;1580474;1626121;1626333;2313764;2313765;2313767;2313768;2313769;2311504;2306694;2306696;2306687;2306697;2306713;2306715;2306690;2306671;2306688;2311502;2317639;2317643;2306689;2317647;4142788;6480464;6484113;6907045;7240710 12791939;16882007;15567334;12835956;16645019;16406300;16306169;16227402;16181175;16792806;11934830;16635594;12135130;16882751;16873705;16793032;16698918;16431135;8857020;16083987;15996002;15521962;15862547;17194636;16887362;16005252;15625284;15356074;17476475;19332057;19295919;19264110;19246225;19171036;19088829;18986336;19382144;19156625;18676006;20098680;19375852;19064563;16434425;20555424 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32530;22843623;22936258;22227802;22513191;22746182;22154520;22245162;22359227;22410945;22565227;22669976;22391565;22430216;23233113;21458314;22951368;23079385;23138182;23406753;22882716;22982059;23180020;22591999;23211593;22960989;23122221;23457723;23400010;22875667;23483175;20818790;20884247;22475139;22503243;22626951;22767591;22844419;23403580;23438236;23524620;21634360;22941977;23080092;23341348;22527168;22532606;22554827;22733797 3479 P05019;Q13429;Q59GC5;Q5U743 AB209184;ABBA01053227;ABBA01053228;ABBA01053229;AC010202;AC068648;AK312231;AMYH01004704;AY260957;AY790940;BC148266;BC152321;CH471054;CR541861;GN335338;M11568;M12659;M14155;M14156;M27544;M29644;M37484;NG_011713;NM_000618;NM_001111283;NM_001111284;NM_001111285;S85346;U40870;X00173;X03420;X03421;X03422;X03563;X56773;X56774;X57025 AAA52537;AAA52538;AAA52539;AAA52543;AAA52787;AAA52789;AAA96152;AAB21519;AAI48267;AAI52322;AAI60082;AAO74829;AAV40833;BAD92421;BAG35164;CAA24998;CAA27152;CAA27153;CAA27154;CAA27250;CAA40092;CAA40093;CAA40342;CAG46659;CAY39134;EAW97695;EAW97696;EAW97697;EAW97698;NP_000609;NP_001104753;NP_001104754;NP_001104755;P05019 Hs.160562 1655300;1656916;1741543;1744007;1796062;1849723;1851332;2127240;2140798;2143651;2154302;2158178;5090928;5093282;5126497 A009K41;D12S1074;D12S1103;D12S1962;D12S2023;G10727;G32627;GDB:181478;GDB:384821;IGF1;IGF1_1346;RH18058;RH77802;WI-18971;WI-21639 IGF-I;IGF1A;IGFI IGF-IA;IGF-IB;MGF;OTTHUMP00000195080;OTTHUMP00000195081;OTTHUMP00000195082;OTTHUMP00000195083;OTTHUMP00000195084;insulin-like growth factor 1;insulin-like growth factor I;insulin-like growth factor IA;insulin-like growth factor IB;mechano growth factor;somatomedin-C 1643258;1643266;1643270;1643277;1643452;2289513 BW104_H;BW198_H;BW201_H;BW203_H;BW205_H;BW449_H APPROVED protein-coding ENSG00000017427 5464 00936 147440;608747 REVIEWED 1316476 IGDCC3 immunoglobulin superfamily, DCC subclass, member 3 15 15 15 q22.3-q23 42497636 42548506 - 63406518 63457431 - 65619465 65670378 - 1580863;6480464 15489334;14702039;12477932;11591653;9922388;20379614 9543 H0YKK1;H0YNQ1;Q8IVU1 ABBA01038854;ABBA01038855;AC105129;AF063936;AI740721;AK095529;AMYH01006718;BC042054;BC067107;BX389424;CB988291;CH471082;NM_004884 AAD13399;AAH42054;AAH67107;BAG53078;EAW77722;NP_004875;Q8IVU1 Hs.128292 1697808;1710506;1795018;1848290;2160342 L18066;PMC87320P1;RH102428;SHGC-86276;WI-14920 HsT18880;PUNC OTTHUMP00000164177;immunoglobulin superfamily DCC subclass member 3;putative neuronal cell adhesion molecule protein-coding ENSG00000174498 9700 09169 604184 VALIDATED 732872 IGBP1 immunoglobulin (CD79A) binding protein 1 The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008] X X q13.1-q13.3 69270043 69302899 + 69353318 69386174 + 1580863;6480464;7240710 11806752;9647778;16769727;18186651;18029348;16517231;15772651;15489334;14702039;14556245;12477932;11371618;10508479;10441131;9441740;16085932;18782753;18715871;22613722;17438131;18949047;19553685;20237496;20544796;21832049;22939629;21355954;21454489;20092282;19156129;21339737;21988832;23000965;23349634;21139048;21890473;21906983;20360068;11685209;16434393;20473970;22194938;22797925 3476 P78318 ABBA01067534;ABBA01067535;ABBA01067536;ABBA01067537;ABBA01067538;AK054596;AK315660;AL139111;AL158141;AMYH01022524;AMYH01022525;BC004137;BT006736;CH471132;CR456782;EF064724;NG_012084;NM_001551;Y08915 AAH04137;AAP35382;ABK41907;ABM83248;ABM86450;BAG38026;BAG51396;CAA70119;CAG33063;EAX05355;EAX05356;NP_001542;P78318 Hs.496267 1667974;1722005;2120736;2126011;2143420;2163784 A006Y20;AF020140;G59889;RH12518;RH48563;SHGC-2602 ALPHA-4;IBP1 B cell signal transduction molecule alpha 4;B-cell signal transduction molecule alpha 4;CD79a-binding protein 1;OTTHUMP00000023464;OTTHUMP00000023465;bA351K23.1 (immunoglobulin binding protein 1 (CD79A) );immunoglobulin binding protein 1;immunoglobulin-binding protein 1;protein alpha-4;protein phosphatase 2/4/6 regulatory subunit;protein phosphatase 2A, regulatory subunit alpha-4;renal carcinoma antigen NY-REN-16 APPROVED protein-coding ENSG00000089289 5461 02140 300139;300472 REVIEWED 1344250 IGF2-AS IGF2 antisense RNA This gene expresses a paternally imprinted antisense transcript of the insulin-like growth factor 2 gene. The transcript is overexpressed in Wilms' tumor. This gene is predicted to be non-coding because the predicted protein is not conserved in any other species and the majority of transcripts would be candidates for non-sense mediated decay (NMD) if a protein were expressed. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 11 11 11 p15.5 2198265 2206401 + 2118313 2126470 + 2161758 2169896 + 6480464 18676680;17289909;12702581;12603530;12477932;10731720;19170196;19625176;19692168;19767753;19948975;19913121;20564319;20628086;11181995;20819778;23193016;17554260;17632545;21829393 51214 Q6U949 AB030733;ABBA01032100;AC132217;AL521915;AL545164;AMYH01003318;AY149295;AY149296;AY375532;BC136585;BC142634;BC142691;CH471158;NG_008849;NR_028043;NR_028044 AAI36586;AAI42635;AAI42692;AAP50262;AAP50263;AAQ86595;BAA90470;EAX02487;Q6U949 Hs.716962 1771016;1802614;1803714;1804074;1804292;1804294;1804500;1807618;1811798;1812168;1813472;1821198;2091522;2091524;2091526;2091528;2091530;2091532;2091534;2091536;2091538 ECD02194;ECD02763;ECD02954;ECD03070;ECD03071;ECD03179;ECD04781;ECD06903;ECD07090;ECD07757;ECD11676;IGF2;REN117041;REN117042;REN117043;REN117044;REN117045;REN117046;REN117047;REN117048;REN117049 IGF2-AS1;IGF2AS;MGC168198;PEG8 APPROVED miscrna ENSG00000099869 14062 10000 610146 VALIDATED 1606571 IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1 This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 17 17 q21.32 44429773 44488506 + 47074774 47133507 + 6480464 22125086;9891060;17353931;18029348;19647520;19541769;19038974;18490442;18454174;18385235;18252897;17546046;17296566;17289661;17255263;17212783;17081983;16964243;16778892;16541107;16356927;16344560;16306994;16049158;15769738;15601260;15355996;15342556;15314207;15282548;15159028;15121863;14767552;14702039;12921532;12532419;12024010;11992722;11973350;10875929;10850408;9801297;8132663;21145461;21252116;20627640;17101699;17643375;19029303;19661680;19726068;19887615;20195514;20819778;20308539;21209918;22939629;16196087;17314511;19167051;21139048;21890473;21906983;22279049;12777385;20360068;20639865;21081666;21981993;21618519;17620599;23455922;19738201;21282530;21642987;21706016;22053931;22266909;22623428;23398456;17203973;19893574;20459747;22505724;17932509;22983196 10642 Q9NZI8 ABBA01041188;ABBA01041189;AC091133;AC105030;AF117106;AF198254;AK022617;AK022784;AK074915;AK095573;AK313229;AMYH01008459;BP238821;CH471109;DA758608;DQ227344;NG_030585;NM_001160423;NM_006546 AAD09826;AAF37203;AAI52771;AAI56958;ABB46294;BAG36040;BAG52029;EAW94693;EAW94694;EAW94695;EAW94696;NP_001153895;NP_006537;Q9NZI8 Hs.144936 1667217;1668909;1678475;1758395;1772404;1783546;2145745 RH16179;RH35899;RH91858;SGC34830;SHGC-148228;SHGC-154117;WI-4369 CRD-BP;CRDBP;IMP-1;IMP1;VICKZ1;ZBP1 IGF II mRNA binding protein 1;IGF-II mRNA-binding protein 1;IGF2 mRNA-binding protein 1;OTTHUMP00000219840;OTTHUMP00000219841;VICKZ family member 1;ZBP-1;coding region determinant-binding protein;insulin-like growth factor 2 mRNA-binding protein 1;zip code-binding protein 1;zipcode-binding protein 1 APPROVED protein-coding ENSG00000159217 28866 09752 608288 REVIEWED 732660 IGF2R insulin-like growth factor 2 receptor This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013] 6 6 q26 160310121 160447573 + 160390131 160527583 + 1581739;1624323;737793;1580863;1298968;2311502;2311514;2311519;2311611;2311622;2311623;2311630;2311631;6480464;7242956 16672920;7493029;8001817;12503077;18676006;16868148;18441505;15531531;15333144;15057872;9652747;8649861;9070652 10799489;7753549;15078902;19453261;19414391;19400954;19240061;19236480;19208780;19195023;19074885;19064572;19037107;19010793;18832656;18789384;18676680;18636124;18616667;18611974;18604514;18602895;18596235;18562769;18434368;18322954;18174267;18037232;17927214;17850746;17684144;17676485;17620336;17507477;17475626;17407457;17149973;17101778;17081983;17069798;16977309;16304558;16179614;16172012;15506681;15258139;15181035;15167696;15156403;15003389;14710346;14574404;12959977;12934103;12857727;12754519;12736721;12665524;12603530;12586773;12543777;12399424;12223346;12165733;12149131;12127559;12021353;12005306;11913773;11867533;11811790;11438990;11390366;11387476;11387475;11331585;11081635;10908666;10358067;9892739;9722981;9695949;9590177;9566979;9362483;9361090;8162705;7797478;7511544;2963003;2957598;1380437;1370435;10829017;12032303;11359012;15782153;21895964;22681933;20104244;20110184;20347606;20634197;20639793;20644561;20673868;10900005;18029348;19170196;19435860;19578796;19615732;19625176;19626700;19692168;19789190;20119675;20302654;20416304;20452482;20453000;8111387;8220428;8267611;20734064;20980691;21195083;19487139;20889566;22939629;11859376;12032548;12060753;14567678;15117318;19322201;22613725;16135791;21761181;22486879;22586326;22623531;22336232;22377707;21139048;22082268;23227253;23347038;21627551;8595419;8824797;21852217;11859375;19738201;22907655;23000965;23071652;23275563;23539881;22268729;22521359 3482 P11717;Q59EZ3 AB209668;ABBA01021058;AF069333;AF109291;AK300848;AL035691;AL353625;AMYH01016806;AY293855;CH471051;J03528;NG_011785;NM_000876;X83701;X91880;Y00285 AAA59866;AAF16870;AAI72256;AAL04402;AAP37954;BAD92905;BAG62499;CAA58674;CAA68395;EAW47607;NP_000867;P11717 Hs.487062 1704628;1707090;1741947;1742347;1778798;1793570;1793572;1793574;1793576;1793578;1793580;1793582;1793584;1796064;1850700;1856434;2162767;2186184 D6S2075;G10508;GDB:186982;GDB:196396;IGF2R_744;PMC23366P1;PMC23366P2;PMC23366P3;PMC23366P4;PMC23366P6;PMC23366P7;PMC23366P8;PMC23366P9;RH1530;RH35870;SHGC-77905;SHGC-81303;WI-9022 CD222;CIMPR;M6P-R;MPR1;MPRI 300 kDa mannose 6-phosphate receptor;CI Man-6-P receptor;CI-MPR;IGF-II receptor;M6P/IGF2 receptor;M6P/IGF2R;M6PR;MPR 300;OTTHUMP00000017536;cation-independent mannose-6 phosphate receptor;cation-independent mannose-6-phosphate receptor;insulin-like growth factor II receptor 2289445;2314977;2314981;2314987;2314988;2314994;2314995;2314996 BW415_H;BW515_H;GLUCO127_H;INSUL31_H;INSUL38_H;INSUL40_H;SLEP23_H;SLIPL24_H APPROVED protein-coding ENSG00000197081 5467 00928 147280 REVIEWED 68997 IGF1R insulin-like growth factor 1 receptor This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. [provided by RefSeq, Jul 2008] 15 15 q26.3 97010284 97325282 + 99192761 99507759 + 1624299;1580863;1581313;1626333;2311504;2306690;2311509;2311524;2311503;2311502;2311505;2311506;2317640;2317642;2317645;2317652;2317649;2317651;4142788;5686435;5686420;5686429;6480464;5686434;5686433;5686413;5686432;5686431;6484113;6907045;7242794;7242902;7242905;7242908;7242915;7242921;7242922;7240710;7242789;7242795;7242846;7242847 14657428;15272025;15862547;17476475;18986336;18801929;17447016;17686258;18676006;16750336;16642022;19885860;19732452;16575403;14506643;14627343;14559833;20555424;18477064;20409077;19703168;18562769;18832736;20864405;18938767;19484445;21047775;14760498;10990448;9767523;9215294;19509240;17121898;22529373;21047277;17952403;15867218 20871634;20009360;11448933;8452530;7541045;7679099;8710868;16886151;10829031;7692086;12138094;10749889;1846292;11162456;3003744;19453261;19406106;19391107;19381485;19330903;19318572;19241236;19240157;19190347;19176870;19153117;19139090;19136503;19124510;21340542;21595894;21931726;22042973;22133293;22146489;22161861;22303694;22336232;22354554;22394253;21620944;22188815;22343486;22509025;17307140;17296734;17277889;17264177;17196841;17164371;17145858;17097318;17066319;17065200;17063263;17044098;17016438;17014845;16983186;16981855;16981720;16962112;16891453;16831875;16827799;16805964;16804965;16793764;16648580;16647191;16595699;16584539;16407661;16382134;16362313;16344560;16328478;16181796;16172123;16127155;16087727;16053920;16037379;16035620;16000560;15954927;15932773;15921396;15914670;15878855;15820831;15805544;15797461;15689620;15671548;15638375;15629149;15623623;15595626;15564321;15522217;15489334;15472208;15358139;15345673;15334055;15324660;15256055;15254679;15253384;15205474;15181035;15146197;15127203;15059221;15043778;14973173;14769130;14764897;14744783;14737113;14729630;14726697;14722023;14710368;14710366;14710360;14710359;14710355;14710354;14697248;14691011;14684825;14654552;14651979;14633695;14615489;14597618;14575710;14559999;14551153;14522909;12937141;12884909;12876069;12843179;12821780;12820418;12784091;12771153;12730241;12697834;12644306;12634644;12613967;12603530;12593846;12556535;12493743;12483226;12482592;12477932;12444079;12379772;12220227;12198159;12147227;12138114;12127559;12105987;12031683;12019176;19064572;19033715;19020730;18992263;18949375;18931647;18829558;18788919;18768899;18766208;18723765;18711691;18708119;18693051;18676680;18660489;18636198;18636124;18632619;18616667;18611244;18599112;18593464;18566589;18538283;18537183;18535748;18508432;18492705;18491034;18483367;18469701;18458087;18452152;18451178;18418709;18413316;18349294;18316725;18267106;18263593;18249219;18216278;18196535;18178561;18095062;18079201;18079194;18064302;18059487;18050122;17975158;17972051;17956902;17918158;17899316;17898946;17846171;17786320;17766039;17761519;17724138;17649826;17640993;17634559;17627944;17620336;17586502;17568996;17560756;17525128;17524361;17486080;17442315;17418605;17349528;17320820;19124506;12005306;11956190;11884618;11867942;11782378;11754068;11724822;11694888;11591350;11463827;11445579;11423532;11316748;11250706;11120746;11094073;11071852;10747872;10655455;10644671;10358067;10026153;9972281;9857239;9852124;9745438;9727029;9642287;9581554;9553137;9524259;9506989;9492017;9491374;9480911;9415396;9389554;9355755;9111084;8999839;8940173;8889548;8875975;8776723;8764099;8697095;8662806;8648195;8621530;8550552;8530377;8247543;8111378;7895674;7642582;7559507;3107886;2948220;2877871;1852007;1851182;1850606;1711844;1316909;15103018;16113100;10082579;17047074;17353931;8626379;20389101;20592355;22626974;22179513;22275271;22419550;22572840;22218435;22424712;21258401;21471532;21159245;21217522;16619240;20417685;20670935;17406664;17419944;18683043;18762812;19170196;19351509;19423729;19460140;19473988;19488994;19500509;19524379;19545541;19578119;19582762;19584075;19625176;19657367;19658040;19664602;19669768;19672856;19679045;19680556;19692168;19703789;19713175;19749460;19767315;19806209;19812598;19817984;19834535;19835884;19838209;19843326;19853071;19855090;19874825;19877134;19950226;19966862;19996272;20061696;20061986;20078550;20080972;20103628;20103656;20103837;20119675;20131294;20145208;20154720;20178321;20179633;20193554;20200332;20201926;20204283;20233590;20302654;20351332;20357178;20360006;20403354;20416304;20417200;20452482;20453000;21139137;20504360;20432247;19759555;12167719;21075859;20397262;20620597;20104520;20818434;20927124;20395438;20713879;20736806;20837466;20847162;20962017;20569071;20734064;20800603;20819078;20935157;21046444;21048031;19913121;20347606;20580999;20587610;20628086;20634197;20644561;20673868;21041409;20940305;20950153;21147068;18070930;21447712;21304894;21338601;19160858;20648549;21122407;21442237;21212273;21152401;21273178;21546606;21292299;21204214;21123183;21124078;21732141;22892600;22894899;21832049;22879999;22939629;22909219;22972910;15767667;23331867;23374155;21057462;20596523;21873172;21317933;21388493;21611203;20422977;21251749;21654344;21713359;21807868;21396585;22406993;22541124;22682017;21330319;23082760;22285568;22555179;21677036;21677874;21685939;21687694;21177763;21372220;21402719;21410323;21524684;21645859;21393993;21728395;21799000;21987572;22058336;19165858;21197570;21811077;21840990;21538027;21972777;20731749;21908557;21943825;21447702;21450456;21994939;21139048;21890473;22246875;22635104;23109135;23250396;23360921;22508822;20976540;21748295;22020329;22033326;20368287;21963094;21988832;22623732;22939624;23000965;23188799;21574055;21729677;21862872;21866554;21958043;22020193;22044563;22115178;22115966;22120672;22128190;22130793;22140443;22172258;22194466;22235273;22335030;22339909;21852217;21959795;22261717;22348393;22372631;22438913;20881960;22875931;22506015;22931894;22738321;23354097;23056576;22614005;23431408;23252569;23263486;23507142;23266446;23402816;23453369;23539445;23190452;23314677;21845403;22309212;22495974;22685298;23152410;23365645;22700994;22710713;22777769;23118311;21939528;22325222;22767591;22825921 3480 C9J5X1;H0YLE7;H0YMJ5;H0YNR0;H3BSZ8;P08069 AB425196;ABBA01020562;ABBA01020563;ABBA01020564;ABBA01020565;ABBA01020566;ABBA01020567;AC055807;AC069029;AC118658;AC118660;AF020763;AK310188;AMYH01006962;AY332722;AY429545;BC010607;BC078157;BC088377;BC107089;BC111046;BC113610;BC113612;BC143721;BM264223;BQ185364;BX093045;CH471101;CN414655;CS238517;DA486252;DR007209;EU826611;EU826612;M69229;NG_009492;NM_000875;X04434 AAB59399;AAB97676;AAI07090;AAI13611;AAI13613;AAI43722;AAP81165;ACF47647;ACF47648;BAG11657;CAA28030;CAJ55819;EAX02220;EAX02221;EAX02222;NP_000866;P08069 Hs.643120;Hs.714012 1657084;1660962;1665454;1667499;1676218;1679050;1681793;1682804;1693612;1707146;1712645;1715435;1717143;1741971;1765491;1767715;1783274;1847542;1856779;2113860;2113862;2121723;2131273;2137439;2155470;2170497;2187331;5492673 AFMa305ye1;D15S906;FAH;G17859;GDB:187366;IGF1R;RH120174;RH120855;RH121492;RH15697;RH44703;RH48245;RH69514;RH70207;RH76769;RH77818;RH92510;RH94329;RH94360;SHGC-148975;SHGC-156036;SHGC-34685;SHGC-58525;SHGC-81342;STS-T85175;UniSTS:481973;WI-20575;WI-21793 CD221;IGFIR;IGFR;JTK13;MGC142170;MGC142172;MGC18216 IGF-I receptor;OTTHUMP00000194784;insulin-like growth factor 1 receptor;insulin-like growth factor I receptor;soluble IGF1R variant 1;soluble IGF1R variant 2 APPROVED protein-coding ENSG00000140443 5465 00932 147370;270450 REVIEWED 737149 IGF2 insulin-like growth factor 2 (somatomedin A) This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 11 11 p15.5 2106923 2127409 - 2150347 2170833 - 1624301;1580863;1626333;2290454;2311513;2311523;2311512;2311502;2311511;2292665;2311520;2311504;5509967;5509973;5509974;5510000;5510001;5510004;5509948;5509963;5509966;5510002;5510007;5510023;5509951;5509961;5509964;5509968;5509971;5509972;5510014;5510017;5509969;5509999;5509960;5510005;5510019;5510022;6480464;7240710 11448941;15862547;17556377;17184497;17554210;18719053;18676006;18724775;18421211;18418699;17476475;12927688;10686593;9160836;21859454;19556211;10727441;20683203;16627931;16088202;18505416;11307180;7521338;18778817;18478565;16477536;12548059;11213353;11123717;11247331;10417663;11232005;7770004;20683839;16787587;9336345;8764603 16166779;1656956;19333718;19957330;20007505;12138094;1845984;10611375;8968759;6382022;11500939;12881524;8298652;19598235;19560381;19549920;19546867;18701505;18676680;18636124;18619647;18616667;18611974;18607558;18604514;18573128;18562769;18541649;18537183;18524796;18520331;18467708;18464243;18428028;18372285;18358696;18350600;18349294;18308616;18297687;18287964;18259111;18245780;18199734;18159214;18085551;18035699;18022169;18006818;17972051;17919721;17786320;17700581;17667841;17640993;17639583;17635080;17620336;17591929;17569086;17560154;17488802;17475626;17440932;17407457;17369847;17360667;17341887;17339271;17325026;17310846;17289909;17285535;17072986;17029194;16935391;16926156;16888814;16868148;16857788;16750516;16716263;16612114;16603642;16531418;16525660;16518847;16489075;16344718;16344560;16330588;16303743;16251897;16247461;19513555;19499149;19453261;19421925;19417744;19390492;19367319;19365888;19336370;19317253;19293570;19242102;19218281;19208780;19127217;19124506;19121847;19066168;19064572;19064563;19034281;18980977;18955703;18931647;18832656;18803353;18794369;18788888;18786438;18772331;18728168;20364576;15140223;15003992;14996863;14764950;14749349;14749262;14718574;14710345;14695992;14645508;14645199;14614750;13679437;12804776;12782403;12765950;12732844;12727212;12719950;12702581;12700030;12637750;12610512;12605037;12586351;12579496;12575534;12558805;12548223;12532445;12519841;12477932;12446294;12388463;12270940;12243757;12127559;12125963;12075589;12032304;12006706;12005306;11969341;11937266;11903044;11889182;11849996;11811790;11793026;11522816;11049980;10884343;10810289;10731720;10407151;10342887;10336724;10084601;9972281;9722981;9722589;9497324;9144427;8939990;8889548;8781553;8589713;8424751;7797478;7730145;7683646;7680905;7527339;6382021;6189745;3881277;3683205;3653397;3652904;3476948;3167054;3002851;2722836;2465304;2450353;1733942;1730789;1714916;1684848;16040806;16037384;16018936;15987847;15970649;15956340;15954927;15935984;15809062;15799974;15797461;15769738;15731405;15706404;15701574;15645136;15642732;15621215;15528386;15498874;15489334;15471867;15359740;15355996;15342556;15298990;15217931;15205474;15191555;15181035;15163116;16115888;16102992;21380782;22347413;22395465;22666415;1569071;658418;11749962;11600567;9446566;15694994;20484977;20592487;21109978;10512690;21238444;21576258;20472480;17294726;17554260;17632545;18481170;19170196;19207313;19276395;19407853;19427670;19502451;19584898;19588890;19625176;19672298;19692168;19713175;19724140;19737423;19749460;19767753;19769965;19843644;19876004;19919531;19924280;19938957;19948975;19950580;19953105;19956766;19956846;20027339;20042264;20057340;20119675;20157191;20388800;20403354;20403997;20416304;20452482;20453000;20468064;20483645;20206398;20651370;22994732;19962924;20089431;20427254;20945273;20338046;20842449;19259766;20479215;20637510;8385745;20010889;20418667;20661447;19586133;20540659;20709701;20929508;20443017;20937833;19689072;20734064;21078522;19786462;19913121;20564319;20628086;20634197;20639793;20673868;20861572;21268128;21282187;20422427;22879348;22902352;23028800;23166326;21536749;21535266;21672538;21251749;21278389;21704210;21164426;21548981;21613208;21757716;21636975;22646060;22662119;22684773;22893718;21744995;21880216;22770937;21823995;22069105;22121898;22140443;22189999;22399759;21410323;21506705;21805044;21926269;21432864;21733157;21798010;22392079;22479380;22630333;23227253;22434232;22341586;21668571;21889930;22042095;22242132;21708937;21900206;22082268;21852217;22188815;21761181;22372631;20301499;20301568;21829393;22098246;22245250;22253814;22253890;22309801;22377707;23079385;23079386;22679513;22486985;22565227;22982059;23023303;22907587;23047069;23207153;23039012;23388414;23118352;22447362;23151531;22527168;22800756;20884247;23035551;22571677;22248018;23299523;23363476;23539881;23530192 3481 Q9UC68 ABBA01032100;ABBA01032101;ABBA01032102;ABBA01032103;AC132217;AF318382;AF517226;AK025719;AK126688;AK313938;AMYH01003318;AY971350;BC000531;BC011786;BC042127;BC053318;BC073756;BE270173;BM667567;BP233290;BT007013;CH471158;DA641853;DQ104203;FB571441;GM741469;HM481219;HM481220;J03242;M17426;M17863;M22373;M29645;NG_008849;NM_000612;NM_001007139;NM_001127598;S77035;X00910;X03425;X03426;X03427;X03562;X06159;X06160;X06161;X07868 AAA52443;AAA52536;AAA52544;AAA52545;AAA60088;AAB34155;AAH00531;AAL55889;AAM51825;AAP35659;AAY40360;ABD93451;ABM83647;ABM86896;ADO21454;ADO21455;BAG36657;BAG54360;CAA25426;CAA27155;CAA27156;CAA27157;CAA27249;CAA29516;CAA29517;CAA29518;CAA30717;CAR95138;CAV31678;EAX02485;NP_000603;NP_001007140;NP_001121070;P01344 Hs.272259 1655215;1694890;1732213;1741963;1744237;1744849;1771016;1777015;1791768;1792486;1792488;1793412;1798842;1798914;1799502;1800260;1802614;1803652;1803714;1804022;1804074;1804292;1804294;1804344;1804500;1806070;1807618;1808386;1809490;1811798;1812168;1812452;1813472;1814778;1821198;1841096;1847598;2091402;2091404;2091406;2091408;2091410;2091412;2091414;2091416;2091418;2091420;2091422;2091424;2091426;2091428;2091430;2091472;2091478;2091546;2127230;2156096;5014051;5118045;7187505 A002D21;D11S4734;D8S2278;ECD00261;ECD00298;ECD00602;ECD00988;ECD02194;ECD02732;ECD02763;ECD02927;ECD02954;ECD03070;ECD03071;ECD03096;ECD03179;ECD03988;ECD04781;ECD05174;ECD05737;ECD06903;ECD07090;ECD07233;ECD07757;ECD08420;ECD11676;ECD21742;G44328;GDB:187027;GDB:438178;GDB:572840;GDB:677440;IGF2;PMC124986P1;PMC151856P1;PMC151856P2;PMC21842P3;REN116981;REN116982;REN116983;REN116984;REN116985;REN116986;REN116987;REN116988;REN116989;REN116990;REN116991;REN116992;REN116993;REN116994;REN116995;REN117016;REN117019;REN117053;SGC35182;STS-H87011;STS-S77035;WI-14149 C11orf43;FLJ22066;FLJ44734;IGF-II;INSIGF;PP9974 IGF-II;OTTHUMP00000011012;OTTHUMP00000011013;OTTHUMP00000011015;OTTHUMP00000011018;OTTHUMP00000011157;OTTHUMP00000011158;OTTHUMP00000220677;insulin-like growth factor 2;insulin-like growth factor II;insulin-like growth factor type 2;putative insulin-like growth factor II associated protein;somatomedin A;somatomedin-A APPROVED protein-coding ENSG00000167244 5466 00939;17410 147470 REVIEWED 1606569 IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2 This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains several four KH domains and two RRM domains. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 3 3 q27.2 186844221 187025521 - 185361527 185542827 - 6480464;7240710 21145819;22427968;9891060;12674497;17353931;15618018;19279076;19258437;19258404;19247372;19228808;19225753;19148120;19139842;19082521;19033397;19020324;19020323;19018773;19008344;19002430;18991055;18984664;18853134;18719881;18694974;18633108;18618095;18598350;18597214;18591388;18544707;18516622;18477659;18469204;18443202;18430866;18426861;18372903;18259684;18162508;17928989;17827400;17804762;17463249;17463248;17463246;17426251;17296566;16049158;15601260;15225648;12477932;10190901;17620599;22586326;22693455;21145461;21576258;21771882;19913121;20550665;20580033;20616309;20627640;20628086;20802253;17289661;17643375;18711366;19401414;19502414;19592620;19602701;19720844;19741166;19741467;19794065;19808892;19862325;19892838;19933996;20043145;20075150;20142250;20161779;20203524;20215779;20384434;20424228;20490451;20509872;20523342;20881960;20581827;20956565;20712903;20816152;20879858;20889853;20929593;22923468;22939629;21573907;23144361;21422097;22770937;17314511;19135240;20186120;21839790;21139048;21890473;21906983;22096510;22032244;19322201;22245690;22233651;22581228;23536553;19738201;21282530;22053931;22623428;23000965;23257922;22015911;23300278;23421499;23455922;23656854;15064750;23029108;19726068;22505724;22899010 10644 F8W930;Q9Y6M1 ABBA01058402;ABBA01058403;ABBA01058404;ABBA01058405;ABBA01058406;ABBA01058407;ABBA01058408;ABBA01058409;AC016961;AC108670;AF117107;AI336648;AK290664;AK296703;AK309611;AMYH01013729;AW193691;BC021290;CD110066;CH471052;EU408701;EU408702;EU408703;EU408704;GN341812;NG_011602;NM_001007225;NM_006548 AAD09827;AAH21290;ABM83087;ABW03490;ACB86625;ACB86626;ACB86627;ACB86628;BAF83353;BAG59297;CAY39325;EAW78209;EAW78210;EAW78211;NP_001007226;NP_006539;Q9Y6M1 Hs.35354 1338595;1646093;1682269;1700202;1853549;1854879;2120784;2139559;2182172;5019773 A009S09;D3S1530;D3S4205;G32801;RH103717;RH11318;RH12864;RH44937;RH70408;SHGC-77627 IMP-2;IMP2;VICKZ2;p62 IGF-II mRNA-binding protein 2;IGF2 mRNA-binding protein 2;OTTHUMP00000082606;OTTHUMP00000082607;OTTHUMP00000082608;VICKZ family member 2;hepatocellular carcinoma autoantigen p62;insulin-like growth factor 2 mRNA-binding protein 2 APPROVED protein-coding ENSG00000073792 28867 10507 125853;608289 REVIEWED 68640 IGFALS insulin-like growth factor binding protein, acid labile subunit The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 16 16 p13.3 1780420 1783710 - 1840414 1844909 - 1624335;1580863;1626121;1626333;6480464;7240710 14762184;15521962;15862547 9786878;9497324;9446566;2473065;1379671;1384485;14718574;19453261;19129715;18676680;18463107;18362293;18349294;18303074;17726072;17546465;17063263;16404426;16344560;16335952;16114275;15616553;15126567;12477932;12364447;11914026;11591653;10823924;10650966;19170196;19207313;19625176;19729943;20142246;20155489;20302654;20943791;10512690;20734064;20591980;20634197;20810604;21216879;22689435;21177759;18029348;21664162;22678306 3483 H3BSX8;P35858;Q8TAY0 ABBA01030296;AC012180;AF192554;AK292182;AK303146;AK313198;AK315808;AL031724;AMYH01007040;BC025681;CH471112;DA642067;M86826;NG_011778;NM_001146006;NM_004970;NR_027389 AAA36047;AAF06774;AAH25681;ABM82460;ABM85649;BAF84871;BAF98699;BAG36014;BAG64250;CAC36078;EAW85612;NP_001139478;NP_004961;P35858 Hs.839 1796066;2119531 D16S2960;IGFALS_349 ALS OTTHUMP00000158804;insulin-like growth factor binding protein complex acid labile chain;insulin-like growth factor-binding protein complex acid labile subunit APPROVED protein-coding ENSG00000099769 5468 03290 601489 REVIEWED 69038 IGFBP1 insulin-like growth factor binding protein 1 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008] 7 7 p13-p12 45894484 45899792 + 45927959 45933267 + 1625238;1580863;1626333;2301716;2301715;6480464;6484113 16306374;15862547;17287408;10069662 20102313;20143870;22187946;22357965;21457161;2454104;19453261;19158202;19124510;19064572;18924579;18828733;18772238;18701096;18676680;18665784;18636124;18596909;18513511;18496669;18305566;18259111;18166823;17972510;17972051;17914103;17890489;17655506;17640761;17634530;17566087;17485842;17465992;17341623;17300730;17264182;17164371;17113753;17062566;17035411;16973813;16924115;16868142;16809446;16776662;16687408;16404426;16338475;16337840;16293667;16222695;16118248;16041536;16002526;15987847;15987820;15972819;15959422;15890677;15797461;15736102;15613433;15598684;15489334;15166120;15070959;15070833;14764802;14726451;14718574;14715837;14624764;14568572;12933666;12882925;12870155;12861174;12853948;12843192;12843178;12746836;12746292;12690205;12679458;12571183;12556485;12519841;12493691;12489207;12477932;12466191;12351482;12163461;12135130;12119297;12082253;12006706;11972304;11969341;11956162;11834727;11793026;11762714;11752456;11397868;11297622;11050672;10987657;10965886;10810289;10691413;10364674;10352394;10350456;10329650;9408744;8754754;7694877;7683525;7683522;7678248;7504269;3419931;2971653;2849945;2478445;2474129;2466665;2461294;2458522;2457513;1718783;1701175;1691735;1373120;10407151;12153746;12150454;20413521;20731527;18793810;19170196;19193607;19308628;19434535;19463807;19539506;19551864;19625176;19692168;19730683;19732896;19765076;19843326;19858071;19917654;19948975;20039319;20144192;20149700;20155489;20416304;20453000;20484221;20734064;20810604;21078522;20711952;19913121;20587581;20628086;20634197;20637724;20885978;22745191;21212012;21378090;21104586;21198359;22894543;21933314;21940708;17803702;21140206;21247237;21521316;21741060;22113073;22442270;22239027;22843786;22072736;21930730;22325929;22104117;21852217;21892205;23377640;23190203;23354097;20884247;22554827 3484 C9J6H2;C9JXF9;P08833 AACC02000092;ABBA01058254;ABBA01058255;AC091524;AK314925;AMYH01017224;AV695706;AY434089;BC035263;BC057806;BT019685;CA429917;CH236958;CH471128;CS138146;FJ795026;HC007038;HI179158;M20841;M23592;M23593;M23594;M23595;M31145;M59316;M74587;NM_000596;X12385;X13405;X15002;Y00856 AAA52540;AAA52542;AAA52783;AAA52784;AAA52785;AAH35263;AAH57806;AAQ96599;AAS07553;AAV38491;ACO37638;BAG37433;CAA30942;CAA31771;CAA33110;CAA68770;CAJ21549;CBH19324;CBX53887;EAL23800;EAW61030;EAW61031;NP_000587;P08833 Hs.642938 1712256;1743839;1774300;1780372;1780374;1780376;1780378;1780380;1787962;1787964;1790709;2124692;2158331;2174943;2179194 G15906;G54036;G67139;G67140;G67141;G67142;G67143;G67173;G67174;GDB:374628;IGFBP1;IGFBP1_pre_5'A;RH17691;SGC33000;SHGC-12673 AFBP;IBP1;IGF-BP25;PP12;hIGFBP-1 IBP-1;IGF-binding protein 1;IGFBP-1;OTTHUMP00000159561;OTTHUMP00000207990;OTTHUMP00000214348;OTTHUMP00000214349;alpha-pregnancy-associated endometrial globulin;amniotic fluid binding protein;binding protein-25;binding protein-26;binding protein-28;growth hormone independent-binding protein;insulin-like growth factor-binding protein 1;placental protein 12 APPROVED protein-coding ENSG00000146678 5469 00897 146730 REVIEWED 1606570 IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008] 7 7 p11 23316353 23476520 - 23349828 23509995 - 6480464 18223334;9178771;9891060;19427669;19357927;19192721;19136932;19047899;18835627;18802962;18618724;18499984;18347170;18337447;18260086;18204432;17885673;17521698;17316760;17296566;17192788;16814207;16541107;16339295;16049158;15753088;15644775;15601260;15489334;12921532;12690205;12477932;12161597;11992722;11465943;10525192;17353931;22627630;21145461;21319273;21613208;19913121;20627640;20628086;17289661;17643375;18029348;19698973;20004948;20379614;20472848;20178612;20881960;19788446;22863883;22555177;21414819;16196087;19322201;18781797;20360068;21694464;21987572;22042095;21139048;21838610;21890473;21906983;22586326;19738201;21150319;21282530;22053931;22840368;22879911;22939629;23382691;23584203;15851029;22505724;23246869;23455922;23752268 10643 F8WD15;O00425 AACC02000007;ABBA01056704;ABBA01056705;ABBA01056706;AC005082;AC021876;AC079780;AF117108;AMYH01017113;BC019258;BC051296;BC065269;BX640800;BX648488;CH236948;CH471073;CS805584;NM_006547;U76705;U97188 AAC35208;AAD09223;AAD09828;AAH65269;CAE45883;CAH56186;CAP40171;EAL24257;EAW93786;EAW93787;NP_006538;O00425 Hs.700696 1651302;1660097;1728599;1852290;2133466;2138344;2149806;2156766;5015861;5024563;5024638;5037552;5093130;7185938 A009H11;AFMa044zb5;D10S16;D8S2279;G32538;G63591;GDB:4585511;RH18504;RH36584;RH65486;SGC34281;SHGC-58242;STS-R78376 CT98;DKFZp686F1078;IMP-3;IMP3;KOC1;VICKZ3 IGF II mRNA binding protein 3;IGF-II mRNA-binding protein 3;IGF2 mRNA-binding protein 3;KH domain containing protein overexpressed in cancer;KH domain-containing protein overexpressed in cancer;OTTHUMP00000158561;VICKZ family member 3;cancer/testis antigen 98;hKOC;insulin-like growth factor 2 mRNA-binding protein 3 APPROVED protein-coding ENSG00000136231 28868 16306 608259 REVIEWED 737357 IGFBP2 insulin-like growth factor binding protein 2, 36kDa 2 2 q33-q34 217206372 217237404 + 217498127 217529159 + 1580863;1598911;1626512;1626492;1626482;1626333;1626478;1626479;1626481;6480464 11456315;11834454;16288470;9396554;15862547;17426323;17259371;16915540 15147770;2465304;21951978;20731527;19081843;19453261;19324937;19127217;19124510;19095771;19064572;18980989;18953566;18952587;18676680;18556354;18524796;18461161;18437351;18373644;18259111;18217408;18210156;18210030;17985932;17970029;17827400;17655506;17606927;17485236;17475624;17395163;17372210;17369847;17352648;17341887;17289850;17285230;17280861;17113753;17102589;17072950;17071580;17020769;16901920;16893667;16884361;16569642;16543235;16444283;16306230;16183342;15994346;15956340;15932773;15686601;15661050;15651061;15643522;15489334;15171717;22293585;22277732;14744083;14710363;14691340;12955485;12907597;12839944;12810534;12794762;12727212;12672024;12575534;12519841;12477932;12102164;12006706;11297622;11063745;10912521;9408744;9156044;8781553;8675597;7680905;7511544;2479552;1726837;1716260;1714916;1712312;1710112;1697583;1380437;1376411;15735679;10407151;19845745;11358513;19164435;19170196;19276395;19625176;19679880;19692168;19764562;19843326;19846739;19862325;19877176;19948975;19956906;20306690;20468064;19962924;20858761;20515648;20150439;20514406;20541521;20734064;20810604;20819778;20634197;20730703;15694994;20370577;21339190;22623219;21304397;22672618;21972778;21899885;22459634;22555360;23397525;22242132;22345562;22253890;23233738;21988832;23071652;23515291;22527168;22554827;22571677 3485 C9JMY1;C9JW52;H7C1H0;P18065 A09809;AB209509;ABBA01062821;ABBA01062822;AC007563;AC073321;AL559513;AMYH01011490;AMYH01011491;AY398667;BC004312;BC009902;BC012769;BC071967;CH471063;HI574226;M35410;M69241;NM_000597;S37730;X16302 AAA03246;AAA36048;AAB22308;AAH04312;AAH09902;AAH12769;AAH71967;AAQ87876;AAY14661;AAY15079;ABM84376;ABW03553;BAD92746;CAA00862;CAA34373;CBX47602;EAW70573;NP_000588;P18065 Hs.438102 1677614;1687089;1711442;2113582;2119736;5014039;5037552 D22S1584;D8S2279;IGFB2;RH79685;RH91510;STS-M35410;bovineIGFBP2 IBP2;IGF-BP53 IBP-2;IGF-binding protein 2;IGFBP-2;OTTHUMP00000207751;OTTHUMP00000207753;insulin-like growth factor binding protein 2;insulin-like growth factor-binding protein 2 protein-coding ENSG00000115457 5471 00898 146731 VALIDATED 1602630 IGFL1 IGF-like family member 1 IGFL1 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43537974 43539465 + 51424849 51426340 + 46733009 46734500 + 6480464 19147602;16890402;15340161;12975309;21454693 374918 Q6UW32 ABBA01040964;AC006262;AMYH01009859;AY359013;AY672111;NM_198541 AAI52956;AAQ89372;AAT77785;NP_940943;Q6UW32 Hs.546554 2148918 RH65803 APRG644;UNQ644 APRG644;insulin growth factor-like family member 1 APPROVED protein-coding ENSG00000188293 24093 17139 610544 PROVISIONAL 1313812 IGFBPL1 insulin-like growth factor binding protein-like 1 9 9 9 p13.1 38341932 38357387 - 38398991 38414444 - 38408991 38424444 - 6480464 17884839;17634530;15845387 347252 Q8WX77 ABBA01050380;ABBA01050381;AK131521;AL135785;AMYH01019366;CH471071;NM_001007563 AAI46372;EAW58251;NP_001007564;Q8WX77 Hs.349705 1734146;1740157;1853749;5022651 D11S2921;D9S1769;D9S970;WI-11112 IGFBP-RP4;IGFBPRP4;bA113O24.1 IGFBP-related protein 10;OTTHUMP00000021398;insulin-like growth factor binding protein related protein 4;insulin-like growth factor-binding protein-like 1;insulin-like growth factor-binding-related protein 4 protein-coding ENSG00000137142 20081 17138 610413 VALIDATED 5131584 IGFL1P1 IGF-like family member 1 pseudogene 1 19 q13.32 46700278 46700537 + 16890402 727703 ABBA01040963;AC006262;AMYH01009859;NG_028705 IGFL-5P pseudo 32956 INFERRED 5131585 IGFL1P2 IGF-like family member 1 pseudogene 2 19 q13.32 46763692 46764118 - 16890402 727704 ABBA01040964;AC007193;AMYH01009859;NG_028698 IGFL-6P pseudo 32957 INFERRED 69043 IGFBP4 insulin-like growth factor binding protein 4 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008] 17 17 q12-q21.1 35853202 35867508 + 38599676 38613982 + 1580863;1626333;6480464 15862547 1377672;19038974;19025658;17824980;17312271;17177834;17071580;17070193;16973813;16924115;16685432;16586492;16540175;15661050;15489334;15204833;15146551;15146197;15062981;14996716;14767471;14705967;12970325;12904166;12733722;12477932;12193384;12163000;11297622;11052994;9751498;9722589;9615225;9408744;9275067;9138096;8964576;8889548;8648179;7778269;7689953;7680905;7511544;7507078;1709585;1709161;1707125;1704481;1380437;1375185;1370941;7683646;11068878;10407151;21166939;12241545;19453261;19956906;20734064;20810604;20628624;20634197;20654748;21207373;21274331;22134921;22246875;22332214;22689691;23079385 3487 B4E351;P22692 ABBA01031827;AC018629;AK290810;AK304572;AMYH01008384;AY442346;BC016041;BT019891;BT019892;BU683435;CH471152;CN431519;M38177;M62403;NM_001552;U20982;Y12508 AAA62670;AAB06189;AAH16041;AAR05443;AAV38694;AAV38695;BAF83499;BAG65363;CAA73110;EAW60664;EAW60665;NP_001543;P22692 Hs.462998 1650636;1662778;2164616;5093090 A009F39;G10627;G32513;RH17717 BP-4;HT29-IGFBP;IBP4;IGFBP-4 IBP-4;IGF-binding protein 4;OTTHUMP00000164451;insulin-like growth factor-binding protein 4 APPROVED protein-coding ENSG00000141753 5473 00900 146733 REVIEWED 735616 IGFBP6 insulin-like growth factor binding protein 6 12 12 q13 51777703 51782395 + 53491436 53496128 + 1580863;1626333;2301712;2301717;2301715;2301708;2301716;6480464 15862547;15123780;15889232;10069662;15705628;17287408 10407151;18957410;7539002;10087296;19453261;18985860;18982452;18676680;18395833;18039785;17978469;17519236;16713569;15797461;15661050;15489334;15366928;15308688;14710364;12558805;12477932;12006706;11914024;11297622;11267670;10414596;10329650;9572875;7692907;7683646;7683540;7511544;2551732;2154495;1850258;1850257;1719383;1709161;1697583;19170196;19625176;19692168;19950226;20432455;20734064;20810604;19913121;20628086;20634197;21548981;21458526;23126425;21997736;21054968;21820463;21940310;18724896;21618524 3489 F8VVA5;F8VYK9;P24592 ABBA01008314;AC073573;AF297519;AJ006952;AK313158;AMYH01004477;AY443494;BC003507;BC005007;BC010162;BC011708;BQ925731;CB048388;CH471054;CR541791;CS138156;M62402;M69054;NM_002178 AAA88070;AAB06187;AAG37059;AAH03507;AAH05007;AAH10162;AAH11708;AAR05445;ABM83921;ABM87242;BAG35976;CAA07346;CAG46590;CAJ21554;EAW96664;NP_002169;P24592 Hs.274313 1657477;5022701 IGFBP6;STS-W84340 IBP6 IBP-6;IGF binding protein 6;IGF-binding protein 6;IGFBP-6;OTTHUMP00000242058;OTTHUMP00000242059;insulin-like growth factor-binding protein 6 protein-coding ENSG00000167779 5475 00902 146735 VALIDATED 732384 IGFBP5 insulin-like growth factor binding protein 5 2 2 q33-q36 217245073 217268516 - 217536828 217560272 - 1580863;1626120;1626121;1626333;6480464 15681824;15521962;15862547 16169070;10766744;15700281;7525452;14718574;19476635;19453261;19341485;19250630;18809517;18805800;18775916;18762576;18710598;18676680;18665784;18624948;18602100;18373644;18311789;18210156;18161051;18085517;17892529;17823924;17804819;17651454;17595320;17496250;17316888;17312271;17290407;17242174;17071587;17067554;16865675;16716263;16543235;16344560;16311053;16195401;16007340;15930103;15802501;15780948;15777798;15661050;15650232;15618969;15534875;15489334;15155755;15140223;15001525;14645245;12810534;12777377;12766061;12477932;12466191;12005306;11973331;11923300;11905402;11874691;11821401;11751588;11297622;11264294;11095942;10811646;10698186;10336724;9883900;9822601;9786878;9528953;9497324;9202242;9110174;8817691;8619474;7511611;7511544;1850258;1850257;1710112;1709938;10407151;1147105;18957933;19170196;19610136;19625176;19628764;19692168;19808657;19843326;19877176;19948051;19950226;20354179;20379614;20416304;20468064;20583135;20508032;20734064;20810604;20819778;20949447;20628624;20634197;20944648;21256825;21460855;20345844;21191810;7559606;22328518;21029365;22589738;22246875;22252554;21852217;23408906;22571677 3488 C9JXX4;P24593 ABBA01062823;AC007563;AF055033;AF147308;AK314992;AMYH01011491;AMYH01011492;AU132181;AV710460;AY534685;BC008099;BC011453;BC018427;BC032366;BC039838;BC046102;BC073984;BC089383;BE795293;BM920595;BQ717583;BQ940805;BT019706;BT019707;CD679409;CH471063;CR456809;CS138154;DA691367;JA139569;JA139576;JA139685;JA139692;L27559;L27560;M62782;M65062;NM_000599;R71383 AAA53505;AAA72051;AAC09368;AAD04730;AAH08099;AAH11453;AAH18427;AAS16353;AAV38512;AAV38513;AAY14662;BAG37488;CAG33090;CAJ21553;CCA64016;CCA64017;CCA64018;CCA64019;EAW70574;EAW70575;NP_000590;P24593 Hs.607212 1671197;1722519;1734852;1796068;2121496;2121498;2133913;2143915;2184882;5124283;5494210 D2S1600E;D2S2725;D2S2836;G60184;IGFBP5_747;Igfbp5;L27559;RH75182;SGC31996;STS-T65427;WI-20588 IBP5 IBP-5;IGF-binding protein 5;IGFBP-5;OTTHUMP00000164060;insulin-like growth factor-binding protein 5 protein-coding ENSG00000115461 5474 00901 146734 VALIDATED 736042 IGFBP3 insulin-like growth factor binding protein 3 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 p13-p12 45918369 45927396 - 45951844 45960871 - 1580863;1626117;1626118;1626120;1626121;1626333;2313765;2313767;2290013;2290003;2290012;2290015;2313768;2313769;2290009;2290011;2290028;2290008;2290021;2290004;2290018;2301465;2301715;2301716;2289159;2313766;2301466;2301468;2313762;2301467;6480464;6907045 15844718;15732261;15681824;15521962;15862547;16887362;16005252;17082888;18076934;15006930;17668637;15625284;15356074;12925957;15298948;12544349;17724372;14675666;17709267;15159305;17952116;10069662;17287408;18068478;16180585;17541304;16445635;17237715;17332286 19960406;20051649;20102313;20423985;10766744;14576163;11940579;17591901;11971816;12599210;14718574;17434920;19527514;19492232;19491931;19453261;19414355;19258508;19240240;19223521;19217707;19194113;19158946;19129715;19127217;19124510;19124506;19121847;19077426;19064572;19064126;19036873;19020726;19019335;19004037;18992263;18992148;18984657;18929499;18818748;18812263;18676680;18636124;18624627;18618736;18615538;18602100;18596909;18562769;18534134;18498652;18471292;18459102;18450319;18398029;18375957;18335323;18329388;18287864;18259111;18178497;18177247;18171112;18163429;18162523;18084616;18059035;18031946;18006928;17997337;17972510;17959403;17957164;17912004;17879951;17827406;17823260;17763192;17761791;17719815;17689128;17655506;17635417;17627014;17624927;17597108;17593323;17567756;17566087;17560154;17555512;17546465;17457048;17453001;17447118;17446556;17434446;17396438;17388800;17350302;17300730;17297462;17293864;17289909;17264182;17210081;17187018;17172410;17119061;17113753;17096329;17085968;17070193;17063263;17056474;17051426;17047053;17044098;17035411;17018785;16969385;16965600;16935391;16915540;16825320;16793770;16776662;16775172;16763062;16723126;16645643;16617154;16614079;16552541;16543235;16541420;16540651;16489531;16489075;16455777;16448675;16404426;16394092;16335952;16322329;16306136;16303743;16275148;16215864;16211216;16210470;16189260;16189247;16181731;16049980;16030120;16015705;15987847;15986122;15959422;15941947;15927849;15894694;15894673;15817480;15809062;15802501;15800934;15781645;15769996;15734965;15703779;15668470;15661050;15651061;15642732;15642160;15641264;15641262;15517912;15489334;15448002;15379965;15340161;15302288;15282325;15247904;15247132;15221971;15198293;15178549;15140235;15126567;15086466;15070968;15069073;15067329;15066922;15059907;15047131;15014034;14760718;14751238;14744783;14710345;14702039;14693733;14674122;14644829;14598881;14597676;14576164;14561895;12962157;12937269;12926118;12907612;12870155;12865482;12853948;12810534;12810533;12735930;12730416;12725526;12690205;12590636;12575534;12571851;12571183;15485880;12519841;12508918;12506097;12477932;12473575;12242693;12220677;12219010;12213898;12210764;12200149;12163384;12150454;12135130;12127836;12122101;12111701;12068000;12054563;12051736;12011225;12006706;11997031;11959812;11953210;11948969;11914026;11914023;11886859;11804742;11801256;11784719;11762714;11751851;11749962;11600567;11375929;11344214;11319179;11297622;11264294;11238520;10874028;22500655;22347413;10849447;10811646;10770214;10650937;10512690;10511594;10407151;10352394;10226805;10218588;10076184;9688635;9497324;9446566;9408744;9389554;9337997;9275067;9252371;8964576;8843739;8708531;8675597;8550744;7566179;7538844;7523391;7508771;2464130;1697583;1695633;1383255;1373120;1293182;1280211;10823924;11095942;16169070;21471542;20848532;21068693;20731527;21383009;21536375;17577982;18410545;18481170;19138871;19170196;19190540;19207313;19257984;19332270;19449212;19455605;19477944;19509068;19540231;19551141;19551864;19556345;19568604;19588500;19591553;19596932;19625176;19633297;19634593;19672706;19692168;19734278;19764562;19784788;19789190;19800385;19833751;19846909;19858071;19917654;19919528;19938081;19941883;19944347;19948975;20003326;20023704;20039319;20084546;20099974;20119675;20121533;20144192;20145156;20155489;20204283;20215856;20228135;20302654;20350746;20403354;20416304;20453000;20468064;20484221;20540360;9388210;20307522;19845745;20357812;20427254;19786971;20501753;20599318;20889360;20945273;20801067;20734064;20860465;20920870;21078522;20378848;19863750;20613589;20851879;21076409;19786462;19913121;20219400;20513670;20580999;20587610;20628086;20628624;20634197;20677014;20810604;21216879;22415807;22745191;23041555;21378090;21195059;21388950;21435441;21529443;21701930;23174226;22739332;22879989;22936258;21648284;21455575;20921904;21474793;21697095;21737444;21392749;21536469;21551235;22892437;21636299;21525788;22894543;21254935;21478207;21140206;21447628;21447640;21562710;22026507;21521316;21698457;21520165;21761353;21898383;22442270;22847383;23348700;21347663;21788435;21944866;22001433;22004906;22246875;22543588;22381038;22415309;21930730;22167391;23185474;21852217;21892705;22328165;22441125;17803702;21520041;21585623;21823995;22032863;22085490;22113073;22253890;22278433;22318747;22332214;22363400;22389159;22565227;22778398;22882716;22494072;22128038;22951368;23383064;23377640;20884247;22475139;23011725;23341348;22527168;22554827;22801219;22884472 3486 B3KPF0;B3KWK7;C9JMX4;H0Y485;H0Y5K2;P17936 AACC02000092;ABBA01058256;AC091524;AF370418;AI142967;AK055632;AK056274;AK075483;AK091706;AK091745;AK092447;AK095408;AK095864;AK095869;AK095900;AK095907;AK095974;AK095991;AK097201;AK122873;AK123735;AK125224;AK127537;AK129951;AK130884;AK297767;AK298143;AK315668;AL540642;AMYH01017224;AU102436;BC000013;BC018962;BC064987;BX640961;CH236958;CH471128;DQ301819;DQ884396;DQ884397;DQ884398;M31159;M35878;NG_011508;NM_000598;NM_001013398;S56205;X64875 AAA52541;AAA52706;AAH00013;AAH18962;AAH64987;AAQ15254;AAS07554;ABB96247;ABI63363;ABI63364;ABI63365;ABM86270;BAC87023;BAG38033;BAG51662;BAG52153;BAG52402;BAG52410;BAG52553;BAG53151;BAG53162;BAG53182;BAG53189;BAG53771;BAG53948;BAG54169;BAG60115;BAG60419;CAA46087;EAL23801;EAW61025;EAW61026;EAW61027;EAW61028;EAW61029;NP_000589;NP_001013416;P17936 Hs.450230 1658571;1659347;1735692;1777383;1790685;1790687;1790689;1790691;1790693;1790695;1790697;1797730 D7S2146E;D7S2379;D7S2833;IGFBP3-5'1;IGFBP3-X2;IGFBP3-X3;IGFBP3-X4.2;IGFBP3-X4.3;IGFBP3-X4.4;IGFBP3-X4.5;IGFBP3_1859;STS-M35878 BP-53;IBP3 IBP-3;IGF-binding protein 3;IGFBP-3;OTTHUMP00000159562;OTTHUMP00000207992;OTTHUMP00000207994;OTTHUMP00000207995;OTTHUMP00000214350;acid stable subunit of the 140 K IGF complex;binding protein 29;binding protein 53;growth hormone-dependent binding protein;insulin-like growth factor-binding protein 3 APPROVED protein-coding ENSG00000146674 5472 00899 146732 REVIEWED 1606353 IGFL4 IGF-like family member 4 IGFL4 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43348025 43349293 - 51234846 51236114 - 46543006 46544274 - 16890402;14702039 444882 M0QYY9;Q6B9Z1 ABBA01040960;AC007785;AMYH01009858;AY672114;NM_001002923 AAT77788;NP_001002923;Q6B9Z1 Hs.531310 insulin growth factor-like family member 4 APPROVED protein-coding ENSG00000204869 32931 13730 610547 PROVISIONAL 1346650 IGHA1 immunoglobulin heavy constant alpha 1 14 105244520 105246046 - 1580863;6480464 3493 P01876 J00220 1722429;1768705;1769303;1793072;2142946;2166213;5113752 G60288;PMC19472P1;RH18069;RH44849;RH44850;RH66790;RH68957 5478 146900 1348714 IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) 14 105124289 105125776 - 1580863 3494 P01877 J00221 1768705;1793078;2142946;2166213;5113752 PMC19472P5;RH44849;RH44850;RH66790;RH68957 5479 147000 1350194 IGHD immunoglobulin heavy constant delta 14 105375782 105383055 - 6480464 3922054 3495 P01880 K02875 2113510;5016911;5113752 BZ900741;RH66790;RH70585 5480 147170 1345249 IGHD1-1 immunoglobulin heavy diversity 1-1 14 105456406 105456422 - 28510 X97051 5482 1354042 IGHD1-14 immunoglobulin heavy diversity 1-14 14 105437541 105437557 - 28508 X13972 5483 1351176 IGHD1-20 immunoglobulin heavy diversity 1-20 14 105428094 105428110 - 28507 X97051 5484 1350759 IGHD1-26 immunoglobulin heavy diversity 1-26 14 105417937 105417956 - 28506 X97051 5485 1349058 IGHD1-7 immunoglobulin heavy diversity 1-7 14 105446811 105446827 - 28509 X13972 5486 1349991 IGHD1OR15-1A immunoglobulin heavy diversity 1/OR15-1A 28335 X55575 5487 1353423 IGHD1OR15-1B immunoglobulin heavy diversity 1/OR15-1B 28334 X55576 5488 1342526 IGHD2-15 immunoglobulin heavy diversity 2-15 14 105434860 105434890 - 28503 J00234 5489 1354181 IGHD2-2 immunoglobulin heavy diversity 2-2 14 105453730 105453760 - 28505 J00232 5490 1344020 IGHD2-21 immunoglobulin heavy diversity 2-21 14 105425454 105425481 - 28502 J00235 5491 1604232 IGFL2 IGF-like family member 2 IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43456014 43469536 + 51342879 51356386 + 46651039 46664561 + 16890402;14702039;12975309;12477932 147920 M0R089;Q6UWQ7 ABBA01040963;AC007785;AK093330;AK125754;AMYH01009858;AW009166;AY358692;AY672112;BC130490;BC130492;CH471126;NM_001002915;NM_001135113 AAI30491;AAI30493;AAQ89055;AAT77786;BAC86275;EAW57405;NP_001002915;NP_001128585;Q6UWQ7 Hs.99376 1679439 RH92919 UNQ645;VPRI645 insulin growth factor-like family member 2 APPROVED protein-coding ENSG00000204866 32929 13729 610545 VALIDATED 1603833 IGFL3 IGF-like family member 3 IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008] 19 19 19 q13.32 43428311 43432914 - 51315168 51319771 - 46623328 46627931 - 16890402;15340161;14702039;12975309;12477932 388555 Q6UXB1 ABBA01040963;AC007785;AMYH01009858;AY358434;AY672113;BC130593;BC130597;CH471126;NM_207393 AAI30594;AAI30598;AAQ88800;AAT77787;ADR82805;EAW57403;EAW57404;NP_997276;Q6UXB1 Hs.365496 5024673 RH80492 UNQ483 RPRC483;insulin growth factor-like family member 3 APPROVED protein-coding ENSG00000188624 32930 17140 610546 VALIDATED 1354189 IGHD2OR15-2B immunoglobulin heavy diversity 2/OR15-2B 28332 X55578 5494 1349984 IGHD2OR15-2A immunoglobulin heavy diversity 2/OR15-2A 28333 X55577 5493 1345450 IGHD2-8 immunoglobulin heavy diversity 2-8 14 105444114 105444144 - 28504 X13972 5492 1343093 IGHD3-10 immunoglobulin heavy diversity 3-10 14 105441400 105441430 - 28499 X13972 5495 1345636 IGHD3-16 immunoglobulin heavy diversity 3-16 14 105432537 105432573 - 28498 X93614 5496 1346423 IGHD3-3 immunoglobulin heavy diversity 3-3 14 105451263 105451293 - 28501 X13972 5498 611937 1350367 IGHD3-9 immunoglobulin heavy diversity 3-9 14 105441584 105441614 - 28500 X13972 5499 1347540 IGHD3OR15-3A immunoglobulin heavy diversity 3/OR15-3A 28331 X55579 5500 1343339 IGHD3-22 immunoglobulin heavy diversity 3-22 14 105422934 105422964 - 28497 X93616 5497 1343733 IGHD4-17 immunoglobulin heavy diversity 4-17 14 105431411 105431426 - 28494 X97051 5503 1349127 IGHD4-23 immunoglobulin heavy diversity 4-23 14 105421773 105421791 - 28493 X97051 5504 1352575 IGHD3OR15-3B immunoglobulin heavy diversity 3/OR15-3B 28330 X55580 5501 1352299 IGHD4-11 immunoglobulin heavy diversity 4-11 14 105440519 105440534 - 28495 X13972 5502 1346326 IGHD4OR15-4A immunoglobulin heavy diversity 4/OR15-4A 28329 X55581 5506 1343288 IGHD5-12 immunoglobulin heavy diversity 5-12 14 105439552 105439574 - 28491 X13972 5508 1345433 IGHD4OR15-4B immunoglobulin heavy diversity 4/OR15-4B 28328 X55582 5507 1347741 IGHD5-18 immunoglobulin heavy diversity 5-18 14 105430445 105430464 - 28490 X97051 5509 1345663 IGHD5-24 immunoglobulin heavy diversity 5-24 14 105420806 105420825 - 28489 X97051 5510 1342624 IGHD5-5 immunoglobulin heavy diversity 5-5 14 105449161 105449180 - 28492 X13972 5511 1343295 IGHD4-4 immunoglobulin heavy diversity 4-4 14 105450126 105450141 - 28496 X13972 5505 1347784 IGHD5OR15-5A immunoglobulin heavy diversity 5/OR15-5A 28327 X55583 5512 1345774 IGHD6-13 immunoglobulin heavy diversity 6-13 14 105438045 105438065 - 28487 X13972 5514 1345741 IGHD6-25 immunoglobulin heavy diversity 6-25 14 105418442 105418459 - 28485 X97051 5516 1352860 IGHD6-19 immunoglobulin heavy diversity 6-19 14 105428602 105428622 - 28486 X97051 5515 1349051 IGHD5OR15-5B immunoglobulin heavy diversity 5/OR15-5B (non-functional) q11.2 2114977 28326 AC037471;X55584 IGHD5OR155B APPROVED pseudo 5513 1350749 IGHD6-6 immunoglobulin heavy diversity 6-6 14 105447314 105447331 - 28488 X13972 5517 1343137 IGHD7-27 immunoglobulin heavy diversity 7-27 14 105402806 105402816 - 28484 J00256 5518 1344397 IGHD@ immunoglobulin heavy diversity group 50648 5481 146910 1342512 IGHDOR15@ immunoglobulin heavy diversity orphans on chromosome 15 3496 5519 146990 735929 IGHE immunoglobulin heavy chain (epsilon polypeptide) 14 105137324 105139109 - 1580863;6480464;6484113 3497 P01854 J00222 1686066;1744485;1793080;2153828 GDB:456167;PMC19472P6;RH68981;SHGC-35600 5522 147180 1343761 IGHEP1 immunoglobulin heavy constant epsilon P1 (pseudogene) 14 14 14 q32.33 86127525 86128824 - 105258610 105259909 - 106188131 106188864 - 6811139 3498 ABBA01074082;AL901608;AMYH01006100;J00223;NG_001019 1686066;1744487;2153828 GDB:456173;RH68981;SHGC-35600 APPROVED pseudo 5523 VALIDATED 1314683 IGFBP7 insulin-like growth factor binding protein 7 This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011] 4 4 q12 57592001 57671296 - 57897237 57976551 - 1580863;1626516;1626565;1626551;6480464 16873698;10854235;11742840 22005787;22173745;22750143;22383111;8117260;8939990;19019211;18711401;18267069;17972510;17465992;17312390;17136345;17048309;16302002;15708897;15489334;15340161;15077158;14633696;14521955;12847218;12843194;12679483;12592389;12477932;12407018;12065244;11549700;10985926;10859029;10820148;10595934;10502291;9388210;9313760;9100611;7980422;7694637;7538673;20440262;20433702;21040219;18981723;19374835;19638426;19710688;19829302;20029996;20407444;20478260;19919630;19542015;20535151;20599521;20977730;22544761;21525788;20464481;22939629;21095038;21908579;21562573;21413833;21835307;22277373;21139048;23250396;22392074;21328580;21909106;18160415;23382691;21988832;22622471;23600329;22906661 3490 Q16270 ABBA01003449;ABBA01003450;ABBA01003451;AC069307;AC111197;AF540057;AI761388;AK303915;AK316082;AMYH01014198;AY518539;BC017201;BC066339;BT006654;CH471057;CS138158;L19182;NG_031877;NM_001253835;NM_001553;S75725 AAA16187;AAB32370;AAH17201;AAH66339;AAN23122;AAP35300;AAR89912;BAG64844;BAH14453;CAJ21555;EAX05520;EAX05521;NP_001240764;NP_001544;Q16270 Hs.479808;Hs.691061 1653458;1657203;1684427;1699330;1855582;2124495;2134815;2137957;2145816;2181853;2191775 G16771;MARC_7319-7320:996687770:1;RH103252;SHGC-12841;SHGC-24442;SHGC-50868;SHGC-60117;SHGC-67219;SHGC-8252;STS-AA005396;STS-H49911 AGM;FSTL2;IBP-7;IGFBP-7;IGFBP-7v;IGFBPRP1;MAC25;PSF;RAMSVPS;TAF IBP-7;IGF-binding protein 7;IGFBP-rP1;OTTHUMP00000158974;PGI2-stimulating factor;TAF;angiomodulin;insulin-like growth factor-binding protein 7;prostacyclin-stimulating factor;tumor-derived adhesion factor APPROVED protein-coding ENSG00000163453 5476 04183 602867;614224 REVIEWED 1347177 IGHEP2 immunoglobulin heavy constant epsilon P2 (pseudogene) 9 9 9 p24.1 5039073 5040530 + 5103452 5104909 + 5113452 5114909 + 6964396;6327276 3499 ABBA01065417;AL161450;AMYH01019201;K01241;NG_003254;NG_009904 APPROVED pseudo 5524 INFERRED 1344505 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 14 105278749 105280452 - 1580863;6480464;6484113 3500 P01857 J00228 1792436;5016350;5017143;5017296;5021504;5113752 A010A33;D14S1342;PMC151015P1;RH44825;RH66790;RH71306 5525 147100 1346969 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) 14 105180479 105182171 - 1580863 3501 P01859 J00230 5016350;5017143;5017296;5021504 A010A33;D14S1342;RH44825;RH71306 5526 147110 1344522 IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) 14 105303296 105308787 - 1580863;6480464;6484113 6808505 3502 P01860 M12958 1792436;5016350;5017143;5017296;5021504 A010A33;D14S1342;PMC151015P1;RH44825;RH71306 5527 147120 1346926 IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) 14 105161752 105163447 - 1580863 3503 P01861 K01316 5016350;5017296;5021504 A010A33;D14S1342;RH71306 5528 147130 1343195 IGHJ1 immunoglobulin heavy joining 1 14 105402660 105402713 - 28483 J00256 5532 1345753 IGHJ2 immunoglobulin heavy joining 2 14 105402452 105402506 - 28481 J00256 5534 1346458 IGHJ1P immunoglobulin heavy joining 1P (pseudogene) 14 14 14 q32.33 86262489 86262542 - 105402879 105402932 - 106331834 106331887 - 6795593;6101209 28482 ABBA01074084;AL122127;AMYH01006100;J00256;NG_001019;X97051 J-psi-1;Jpsi1 APPROVED pseudo 5533 VALIDATED 1348500 IGHJ3 immunoglobulin heavy joining 3 14 105401840 105401891 - 28479 J00256 5536 1345182 IGHJ4 immunoglobulin heavy joining 4 14 105401468 105401517 - 28477 J00256 5538 1353534 IGHJ5 immunoglobulin heavy joining 5 14 105401067 105401119 - 28476 J00256 5539 1344075 IGHJ6 immunoglobulin heavy joining 6 14 105400451 105400515 - 28475 J00256 5540 1345981 IGHJ@ immunoglobulin heavy joining group 3506 5531 147010 1351196 IGHJ2P immunoglobulin heavy joining 2P (pseudogene) 14 14 14 q32.33 86261658 86261717 - 105402048 105402107 - 106331003 106331062 - 6795593;6101209 28480 ABBA01074084;AL122127;AMYH01006100;J00256;NG_001019;X97051 Jpsi2 APPROVED pseudo 5535 VALIDATED 1350926 IGHM immunoglobulin heavy constant mu 14 105389082 105393367 - 1580863;6480464;7240710 2115996 3507 P01871 X14940 1792436;1793076;1793396;2113510;2129085;5016350;5016911;5017143;5017296;5021504;5113752;5124407 A010A33;BZ900741;D14S1342;G19448;PMC151015P1;PMC19472P3;PMC21601P1;RH44825;RH66790;RH69050;RH70585;RH71306 5541 147020;601495 1605956 IGFLR1 IGF-like family receptor 1 19 19 19 q13.12 32943626 32946828 - 40921991 40925191 - 36230151 36233351 - 6480464 12477932;21454693 79713 K7EL86;K7EQI5;K7ES44;K7ESC2;Q9H665 ABBA01018762;ABBA01018763;AD000671;AK026226;AMYH01009732;AX775837;BC031329;BC126481;BC126483;BC144205;NM_024660 AAH31329;AAI26482;AAI26484;BAB15400;CAE11618;NP_078936;Q9H665 Hs.352548 1661548;1683303 RH99245;STS-H85102 FLJ22573;TMEM149;U2AF1L4 IGF-like family receptor 1;U2 small nuclear RNA auxiliary factor 1-like 4;U2(RNU2) small nuclear RNA auxiliary factor 1-like 4;transmembrane protein 149 APPROVED protein-coding ENSG00000126246 23620 07996 614143 PROVISIONAL 1348203 IGHJ3P immunoglobulin heavy joining 3P (pseudogene) 14 14 14 q32.33 86260280 86260330 - 105400670 105400720 - 106329625 106329675 - 6795593;6101209 28478 ABBA01074084;AL122127;AMYH01006100;J00256;NG_001019;X97051 Jpsi3 APPROVED pseudo 5537 VALIDATED 1347621 IGHR immunoglobulin heavy chain regulator 314310 8117 5543 1348528 IGHV1-12 immunoglobulin heavy variable 1-12 (pseudogene) 14 14 14 q32.33 86509352 86509641 - 105650059 105650348 - 106579014 106579303 - 3396540 28471 AB019440;ABBA01074094;AMYH01006100;NG_001019;X92210 1-12P;IGHV112 APPROVED pseudo 5546 VALIDATED 1353476 IGHGP immunoglobulin heavy constant gamma P (non-functional) 14 14 q32.33 105205522 105207422 - 106134586 106136377 - 3130612 3505 AL928761;AL928769;AMYH01006092;NG_001019;X06766 1792436 PMC151015P1 IGHGP1 pseudo 5529 VALIDATED 1344964 IGHV1-18 immunoglobulin heavy variable 1-18 14 105712606 105713042 - 28468 M99641 5549 1347610 IGHV1-24 immunoglobulin heavy variable 1-24 14 105804187 105804624 - 6480464 28467 M99642 5551 1343919 IGHV1-2 immunoglobulin heavy variable 1-2 14 105523714 105524151 - 6480464 28474 X07448 1686202;1741397;1769303;1777747;1793072;1793074;1793076;1793396;2113510;2129085;2169842 BZ900741;G19448;GDB:180978;PMC19472P1;PMC19472P2;PMC19472P3;PMC21601P1;RH18069;RH25348;RH98683;SGC33974 5550 1606752 IGFN1 immunoglobulin-like and fibronectin type III domain containing 1 1 1 1 q32.1 174284212 174321263 + 199448393 199464697 + 201159953 201198080 + 18756455;12477932;15385448;20379614 91156 B7WP51;H7BZ61;Q86VF2 ABBA01027535;AC103925;AL137493;AMYH01001641;AY245430;BC028184;BC033185;BC131529;CH471067;NM_001164586 AAI31530;AAO92932;CAB70770;EAW91347;EAW91348;EAW91349;NP_001158058;Q86VF2 Hs.519024 2141869 SHGC-76149 DKFZp434B1231;EEF1A2BP1 EEF1A2-binding protein 1;KY-interacting protein 1;OTTHUMP00000033847;eEF1A2 binding protein;immunoglobulin-like and fibronectin type III domain-containing protein 1 protein-coding ENSG00000163395 24607 16812 INFERRED 1343395 IGHV1-14 immunoglobulin heavy variable 1-14 (pseudogene) 14 14 14 q32.33 86532903 86533152 - 105673616 105673865 - 106602571 106602820 - 8490662 28470 AB019440;ABBA01074094;AMYH01006101;M99639;NG_001019 1-14P;IGHV114 APPROVED pseudo 5547 VALIDATED 1346480 IGHV1-3 immunoglobulin heavy variable 1-3 14 105542289 105542726 - 28473 X62109 5552 1348399 IGHV1-17 immunoglobulin heavy variable 1-17 (pseudogene) 14 14 14 q32.33 86561359 86561795 - 105702076 105702512 - 106631031 106631467 - 8490662 28469 AB019440;ABBA01074094;AMYH01006101;M99640;NG_001019 1-17P;IGHV117 APPROVED pseudo 5548 VALIDATED 1343652 IGHV1-67 immunoglobulin heavy variable 1-67 (pseudogene) 14 14 14 q32.33 87074906 87075345 - 106207665 106208104 - 107136620 107137059 - 3396540 28463 AB019437;AMYH01006101;NG_001019;X92212 1740857 D14S1420 1-67P;IGHV167 APPROVED pseudo 5556 VALIDATED 1352108 IGHV1-58 immunoglobulin heavy variable 1-58 14 106149416 106149853 - 28464 M29809 5555 1344951 IGHV1-46 immunoglobulin heavy variable 1-46 14 106038092 106038529 - 28465 X92343 5554 1348342 IGHV1-45 immunoglobulin heavy variable 1-45 14 106033974 106034411 - 28466 X92209 5553 1352686 IGHV1-C immunoglobulin heavy variable 1-C (provisional) 28460 Z18904 5560 1353582 IGHV1-F immunoglobulin heavy variable 1-F (provisional) 28458 Z12305 5562 1348898 IGHV1-69 immunoglobulin heavy variable 1-69 14 106240974 106241412 - 8469934 28461 L22582 5558 1353470 IGHV1-8 immunoglobulin heavy variable 1-8 14 105610122 105610560 - 28472 M99637 5559 1346241 IGHV1-68 immunoglobulin heavy variable 1-68 (pseudogene) 14 14 14 q32.33 87098709 87099188 - 106230869 106231348 - 107159824 107160303 - 9841928 28462 AB019437;AMYH01006101;NG_001019 1-68P;IGHV168 APPROVED pseudo 5557 VALIDATED 1348025 IGHV1OR15-1 immunoglobulin heavy variable 1/OR15-1 (non-functional) 15 15 q11.2 19949604 19950239 - 22448240 22448875 - 2841108;7951227;7681398 388077 P23083 ABBA01015827;AC010760;AMYH01006364;Z29631 CAA82738;P23083 1723339 RH118486 IGHV1/OR15-1;IGHV1OR151 APPROVED pseudo 5563 MODEL 1354167 IGHV1OR15-3 immunoglobulin heavy variable 1/OR15-3 (pseudogene) 15 15 q11.2 19967170 19967857 - 22465806 22466493 - 8801417;7951227 646370 ABBA01017836;AC010760;AMYH01006364;Z29595 IGHV1OR153 APPROVED pseudo 5565 MODEL 1349977 IGHV1OR15-4 immunoglobulin heavy variable 1/OR15-4 (pseudogene) 15 15 q11.2 19983953 19991387 - 22482589 22490023 - 7951227 646379 AC025884;Z29596 IGHV1OR154 APPROVED pseudo 5566 1343504 IGHV1OR15-6 immunoglobulin heavy variable 1/OR15-6 (pseudogene) q11.2 7951227 28320 AC131280;Z29634 IGHV1OR156 APPROVED pseudo 5568 1345401 IGHV1OR15-2 immunoglobulin heavy variable 1/OR15-2 (pseudogene) 15 15 15 q11.2 392787 393233 + 18437936 18440447 - 20178025 20178471 - 9847074;7959766 100287128 ABBA01004578;AC127381;AMYH01006105;L25543 IGHV1OR152 APPROVED pseudo 5564 MODEL 1345090 IGHV1OR16-2 immunoglobulin heavy variable 1/OR16-2 (pseudogene) p11.2 7951227 28314 Z29600 IGHV1OR162 APPROVED pseudo 5571 1346809 IGHV1OR16-3 immunoglobulin heavy variable 1/OR16-3 (pseudogene) p11.2 7951227 28313 Z29639 IGHV1OR163 APPROVED pseudo 5572 1346109 IGHV1OR15-9 immunoglobulin heavy variable 1/OR15-9 (non-functional) 15 15 q11.1 18429923 18430368 - 20169909 20170354 - 9847074;7959766 651963 AC127381;L25542 AAA79020 IGHV1OR159 pseudo 5569 1353063 IGHV1OR16-4 immunoglobulin heavy variable 1/OR16-4 (pseudogene) p11.2 7951227 28312 Z17397 IGHV1OR164 APPROVED pseudo 5573 1352011 IGHV2-26 immunoglobulin heavy variable 2-26 14 105828694 105829137 - 28455 M99648 5575 1347037 IGHV2-10 immunoglobulin heavy variable 2-10 (pseudogene) 14 14 14 q32.33 86489878 86490318 - 105630585 105631025 - 106559540 106559980 - 8490662 28456 AB019440;ABBA01074092;M99647;NG_001019 2-10P;IGHV210 APPROVED pseudo 5574 VALIDATED 1347538 IGHV1OR16-1 immunoglobulin heavy variable 1/OR16-1 (pseudogene) 16 p11.2 32046391 32046647 + 7951227 28315 ABBA01152593;AC142381;NG_027716;Z29599 IGHV1OR161 APPROVED pseudo 5570 INFERRED 1347404 IGHV1OR15-5 immunoglobulin heavy variable 1/OR15-5 (non-functional) 21 9861890 9884938 + 7951227;3123998;1404388 100384884 ABBA01134518;NG_016978;Z12314;Z29633 CAA78184 IGHV1OR155 APPROVED pseudo 5567 INFERRED 1343940 IGHV2-5 immunoglobulin heavy variable 2-5 14 105565179 105565622 - 28457 X62111 5576 1347322 IGHV2-70 immunoglobulin heavy variable 2-70 14 106249864 106250307 - 28454 L21969 5577 1342657 IGHV3-13 immunoglobulin heavy variable 3-13 14 105657180 105657632 - 28449 X92217 5581 4752521 IGHV1OR21-1 immunoglobulin heavy variable 1/OR21-1 (non-functional) 21 21 p11.2 9884493 9884938 + 10862622 10863067 + 6480464 10830953;1404388;3123998 390530 A6NJS3 AF254982;AMYH01012129;NG_011680;X92282 A6NJS3 pseudo 38040 INFERRED 1349268 IGHV3-15 immunoglobulin heavy variable 3-15 14 105681356 105681817 - 28448 X92216 5582 1352635 IGHV3-16 immunoglobulin heavy variable 3-16 14 105692937 105693390 - 28447 M99655 5583 1342973 IGHV2OR16-5 immunoglobulin heavy variable 2/OR16-5 (non-functional) 16 16 p11.2 32766535 32767076 + 32859034 32859575 + 7959766 100129631 ABBA01009461;AC142086;CH878714;L25544 AAA79021;EAW50869 IGHV2OR165 pseudo 5579 MODEL 1347525 IGHV3-11 immunoglobulin heavy variable 3-11 14 105644276 105644725 - 28450 M99652 5580 1350977 IGHV3-19 immunoglobulin heavy variable 3-19 (pseudogene) 14 14 14 q32.33 86583847 86584139 - 105724414 105724706 - 106653369 106653661 - 8490662 28446 AB019440;ABBA01074094;AMYH01006101;M99656;NG_001019 3-19P;IGHV319 APPROVED pseudo 5584 VALIDATED 1346799 IGHV3-20 immunoglobulin heavy variable 3-20 14 105738624 105739078 - 28445 M99657 5585 1348697 IGHV3-21 immunoglobulin heavy variable 3-21 14 105762716 105763169 - 28444 Z14073 5586 735342 IGH immunoglobulin heavy locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V, D, J, and C segments are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Jul 2008] 14 q32.33 106032614 107288051 - 6480464 20471030;19369625;19264231;19250848;19129688;18818706;18667363;18656697;18538438;17940204;16860443;16215945;16194898;15716988;15703784;15607820;15191563;15010366;14702039;12477932;12370427;12114543;9841928;9294139;7486559;6817141;6101209;3243276;3144456;2518659;21306777;19443409;19454496;19679010;20093404;20160358;20164537;20491880;19965626;20177145;20544842;20552631;20952062;9847074;21549311;21487109;21061041;21055809;21784854;22294636;22357631;22939229;23303672;21988832;22574971;22965301;21326860;22517675;23220404 3492 Q96QS0 AB019437;AB019438;AB019439;AB019440;AB019441;ABBA01074082;ABBA01074083;ABBA01074084;ABBA01074085;ABBA01074086;ABBA01074087;ABBA01074088;ABBA01074089;ABBA01074090;ABBA01074091;ABBA01074092;ABBA01074093;ABBA01074094;ABBA01074095;ABBA01074096;ABBA01074097;ABBA01074098;ABBA01074099;ABBA01074100;ABBA01074101;ABBA01074102;ABBA01074103;ABBA01074104;ABBA01074105;ABBA01074106;ABBA01074107;ABBA01074108;ABBA01074109;ABBA01074110;AK123975;AK125079;AK126352;AL122127;AL901608;AL928742;AL928761;AL928762;AL928765;AL928767;AL928768;AL928769;AMYH01006085;AMYH01006086;AMYH01006087;AMYH01006088;AMYH01006089;AMYH01006090;AMYH01006091;AMYH01006092;AMYH01006093;AMYH01006094;AMYH01006095;AMYH01006096;AMYH01006097;AMYH01006098;AMYH01006099;AMYH01006100;AMYH01006101;BC066594;BX538066;BX640822;BX640854;DQ535074;NG_001019 ABG38437;BAC85740;BAC86044;BAC86532;CAD97996;CAE45898;CAE45921 Hs.699841 1646896;1648137;1650110;1661837;1678039;1680220;1681229;1686066;1686202;1710266;1713035;1715267;1722429;1740857;1740859;1741397;1742991;1744485;1744487;1752313;1759781;1761069;1767771;1768485;1768705;1769303;1777747;1783118;1792436;1793072;1793074;1793076;1793078;1793080;1793396;1857784;2122270;2125530;2129085;2140468;2142946;2153676;2153828;2163349;2166213;2169842;2185548;2186963;2187573;5113752 D14S1419;D14S1420;G19448;G35370;G35777;G36059;G36060;G36080;G36190;G36191;G36192;G36342;G60288;GDB:180978;GDB:229307;GDB:456167;GDB:456173;L77312;PMC151015P1;PMC19472P1;PMC19472P2;PMC19472P3;PMC19472P5;PMC19472P6;PMC21601P1;RH119884;RH120300;RH18069;RH25348;RH44849;RH44850;RH47003;RH65984;RH66790;RH67822;RH68957;RH68981;RH70844;RH75970;RH79161;RH80278;RH98683;SGC33974;SHGC-106213;SHGC-145014;SHGC-170015;SHGC-170017;SHGC-35600;SHGC-36156;SHGC-85227 DKFZp686C15213;DKFZp686K04218;DKFZp686L19235;DKFZp686M08189;FLJ41981;FLJ43089;FLJ44381;IGH.1@;IGH@;IGHDY1;MGC70893;MGC72071;MGC88774 immunglobulin heavy chain variable region;immunoglobulin heavy locus APPROVED protein-coding 5477 REVIEWED 1348199 IGHV3-23 immunoglobulin heavy variable 3-23 14 105796244 105796699 - 28442 M99660 5588 611939 1348527 IGHV3-25 immunoglobulin heavy variable 3-25 (pseudogene) 14 14 14 q32.33 86676114 86676567 - 105816665 105817118 - 106745620 106746073 - 8490662 28441 AB019439;ABBA01074095;AMYH01006101;M99661;NG_001019 3-25P;IGHV325 APPROVED pseudo 5589 VALIDATED 1344900 IGHV3-22 immunoglobulin heavy variable 3-22 (pseudogene) 14 14 14 q32.33 86644848 86645309 - 105785405 105785866 - 106714360 106714821 - 8490662 28443 AB019439;ABBA01074094;AMYH01006101;M99659;NG_001019 3-22P;IGHV322 APPROVED pseudo 5587 VALIDATED 1353560 IGHV3-29 immunoglobulin heavy variable 3-29 (pseudogene) 14 14 q32.33 105858403 105858860 - 106787358 106787815 - 8490662 28440 AB019439;AMYH01006101;M99662;NG_001019 3-29P;IGHV329 APPROVED pseudo 5590 VALIDATED 1343472 IGHV3-30 immunoglobulin heavy variable 3-30 14 105862048 105862501 - 28439 M83134 5124407 RH69050 5591 1352029 IGHV3-30-5 immunoglobulin heavy variable 3-30-5 89770 M83134 5594 1351122 IGHV3-32 immunoglobulin heavy variable 3-32 (pseudogene) 14 14 q32.33 105883116 105883573 - 106812071 106812528 - 8490662 28435 AB019439;AMYH01006101;M99664;NG_001019 3-32P;IGHV332 APPROVED pseudo 5595 VALIDATED 1344854 IGHV3-30-3 immunoglobulin heavy variable 3-30-3 57290 X92283 5593 1353105 IGHV3-33 immunoglobulin heavy variable 3-33 14 105886765 105887218 - 28434 L06618 5596 1349084 IGHV3-35 immunoglobulin heavy variable 3-35 14 105916366 105916819 - 28432 M99666 5598 1352462 IGHV3-36 immunoglobulin heavy variable 3-36 (pseudogene) 14 14 14 q32.33 86786621 86787083 - 105919725 105920187 - 106848680 106849142 - 8490662 28431 AB019439;ABBA01074102;AMYH01006101;M99667;NG_001019 3-36P;IGHV336 APPROVED pseudo 5599 VALIDATED 1343901 IGHV3-37 immunoglobulin heavy variable 3-37 (pseudogene) 14 14 14 q32.33 86790517 86790966 - 105923622 105924071 - 106852577 106853026 - 8490662 28430 AB019439;ABBA01074102;AMYH01006101;M99668;NG_001019 3-37P;IGHV337 APPROVED pseudo 5600 VALIDATED 1347203 IGHV3-41 immunoglobulin heavy variable 3-41 (pseudogene) 14 14 14 q32.33 86836978 86837432 - 105970085 105970539 - 106899040 106899494 - 8490662 28428 AB019438;ABBA01074107;AMYH01006101;M99670;NG_001019 3-41P;IGHV341 APPROVED pseudo 5602 VALIDATED 1350820 IGHV3-42 immunoglobulin heavy variable 3-42 (pseudogene) 14 14 14 q32.33 86857097 86857531 - 105990224 105990658 - 106919179 106919613 - 8490662 28427 AB019438;ABBA01074109;AMYH01006101;M99671;NG_001019 3-42P;IGHV342 APPROVED pseudo 5603 VALIDATED 1347017 IGHV3-38 immunoglobulin heavy variable 3-38 14 105937452 105937901 - 28429 M99669 5601 1354279 IGHV3-43 immunoglobulin heavy variable 3-43 14 105997232 105997689 - 28426 M99672 5604 1346450 IGHV3-30-2 immunoglobulin heavy variable 3-30-2 (pseudogene) 14 14 q32.33 105871354 105871802 - 106800309 106800757 - 9841928 28438 AB019439;AMYH01006101;NG_001019 3-30.2P;IGHV3302 APPROVED pseudo 5592 VALIDATED 1344678 IGHV3-47 immunoglobulin heavy variable 3-47 (pseudogene) 14 14 14 q32.33 86912447 86912902 - 106045551 106046006 - 106974506 106974961 - 28425 AB019438;AMYH01006101;NG_001019;Z18900 CAA79337 3-47P;IGHV347 APPROVED pseudo 5605 VALIDATED 1350036 IGHV3-49 immunoglobulin heavy variable 3-49 14 106083981 106084442 - 28423 M99676 5607 1349926 IGHV3-50 immunoglobulin heavy variable 3-50 (pseudogene) 14 14 14 q32.33 86960031 86960486 - 106093133 106093588 - 107022088 107022543 - 8490662 28422 AB019438;AMYH01006101;M99677;NG_001019 3-50P;IGHV350 APPROVED pseudo 5608 VALIDATED 1343056 IGHV3-52 immunoglobulin heavy variable 3-52 (pseudogene) 14 14 14 q32.33 86980308 86980758 - 106113405 106113855 - 107042360 107042810 - 8490662 28421 AB019438;ABBA01040615;AMYH01006101;M99678;NG_001019 3-52P;IGHV352 APPROVED pseudo 5609 VALIDATED 1346658 IGHV3-53 immunoglobulin heavy variable 3-53 14 106119715 106120165 - 28420 M99679 5610 1345313 IGHV3-54 immunoglobulin heavy variable 3-54 (pseudogene) 14 14 14 q32.33 86995287 86995734 - 106128393 106128840 - 107057348 107057795 - 8490662 28419 AB019437;AB019438;AMYH01006101;M99680;NG_001019 3-54P;IGHV354 APPROVED pseudo 5611 VALIDATED 1353392 IGHV3-57 immunoglobulin heavy variable 3-57 (pseudogene) 14 14 14 q32.33 87012853 87013158 - 106145967 106146272 - 107074922 107075227 - 3097326 28418 AB019437;AB019438;AMYH01006101;M29815;NG_001019 3-57P;IGHV357 APPROVED pseudo 5612 VALIDATED 1349278 IGHV3-6 immunoglobulin heavy variable 3-6 (pseudogene) 14 14 14 q32.33 86442122 86442576 - 105582822 105583276 - 106511777 106512231 - 8490662 28453 AB019440;ABBA01074091;AMYH01006100;M99650;NG_001019 3-06P;IGHV36 APPROVED pseudo 5613 VALIDATED 1348267 IGHV3-60 immunoglobulin heavy variable 3-60 (pseudogene) 14 14 14 q32.33 87025132 87025588 - 106158247 106158703 - 107087202 107087658 - 3097326 28417 AB019437;AB019438;ABBA01040614;AMYH01006101;M29813;NG_001019 3-60P;IGHV360 APPROVED pseudo 5614 VALIDATED 1353459 IGHV3-62 immunoglobulin heavy variable 3-62 (pseudogene) 14 14 14 q32.33 87037433 87037888 - 106170178 106170633 - 107099133 107099588 - 3097326 28416 AB019437;ABBA01040614;AMYH01006101;M29814;NG_001019 2122270 G36060 3-62P;IGHV362 APPROVED pseudo 5615 VALIDATED 1343103 IGHV3-64 immunoglobulin heavy variable 3-64 14 106184784 106185239 - 28414 M99682 1761069 SHGC-145014 5617 1348003 IGHV3-33-2 immunoglobulin heavy variable 3-33-2 (pseudogene) 14 14 14 q32.33 86762950 86763398 - 105896074 105896522 - 106825029 106825477 - 9841928 28433 AB019439;ABBA01074102;AMYH01006101;NG_001019 3-33.2P;IGHV3332 APPROVED pseudo 5597 VALIDATED 1347962 IGHV3-48 immunoglobulin heavy variable 3-48 14 106064857 106065312 - 28424 M99675 1715267;5124407 RH119884;RH69050 5606 1345177 IGHV3-65 immunoglobulin heavy variable 3-65 (pseudogene) 14 14 14 q32.33 87060341 87060835 - 106193099 106193593 - 107122054 107122548 - 7920635 28413 AB019437;ABBA01040613;AMYH01006101;NG_001019;Z27503 3-65P;IGHV365 APPROVED pseudo 5618 VALIDATED 1349213 IGHV3-7 immunoglobulin heavy variable 3-7 14 105589443 105589898 - 28452 M99649 5620 1349969 IGHV3-66 immunoglobulin heavy variable 3-66 14 106202076 106202526 - 28412 X92218 5619 1349216 IGHV3-72 immunoglobulin heavy variable 3-72 14 106269975 106270436 - 28410 X92206 5622 1352640 IGHV3-73 immunoglobulin heavy variable 3-73 14 106281975 106282436 - 28409 Z27508 5623 1354426 IGHV3-74 immunoglobulin heavy variable 3-74 14 106289719 106290174 - 28408 Z12353 5624 1342713 IGHV3-79 immunoglobulin heavy variable 3-79 (pseudogene) 14 14 14 q32.33 87228886 87229338 - 106346898 106347349 - 107275853 107276304 - 9841928 28405 AB019437;AMYH01006101;NG_001019 3-79P;IGHV379 APPROVED pseudo 5627 VALIDATED 1348416 IGHV3-9 immunoglobulin heavy variable 3-9 14 105623329 105623774 - 28451 M99651 5628 1349343 IGHV3-D immunoglobulin heavy variable 3-D (provisional) 28404 Z18898 5629 1343224 IGHV3-76 immunoglobulin heavy variable 3-76 (pseudogene) 14 14 14 q32.33 87189119 87189568 - 106307134 106307583 - 107236089 107236538 - 1404388 28406 AB019437;AMYH01006101;NG_001019;Z12341 3-76P;IGHV376 APPROVED pseudo 5626 VALIDATED 1346092 IGHV3-71 immunoglobulin heavy variable 3-71 (pseudogene) 14 14 14 q32.33 87136417 87136878 - 106254441 106254902 - 107183396 107183857 - 9841928;7920635;1404388 28411 AB019437;ABBA01000438;ABBA01000439;AMYH01006101;NG_001019;Z12336;Z29985 3-71P;IGHV3-G;IGHV371;IGHV3G APPROVED pseudo 5621 VALIDATED 1342573 IGHV3-G immunoglobulin heavy variable 3-G pseudogene (provisional) q32.32-q32.33 1404388 28403 Z12336 IGHV3G pseudo 5630 1350117 IGHV3OR15-7 immunoglobulin heavy variable 3/OR15-7 (pseudogene) 15 q11.1 20192722 20193370 - 7951227 28318 Z29597 CAA82714 IGHV3/OR15-7;IGHV3OR157 APPROVED pseudo 5633 MODEL 1350716 IGHV3OR16-10 immunoglobulin heavy variable 3/OR16-10 (non-functional) p11.2 7951227 28306 AC142086;Z29607 CAA82724 IGHV3OR1610 pseudo 5634 1350957 IGHV3-H immunoglobulin heavy variable 3-H (pseudogene) q32.33 16133446;7920635 28402 Z29981 CAA82871 IGHV3H APPROVED pseudo 5631 1344815 IGHV3-63 immunoglobulin heavy variable 3-63 (pseudogene) 14 14 14 q32.33 87046516 87046983 - 106179273 106179740 - 107108228 107108695 - 8490662 28415 AB019437;AMYH01006101;M99681;NG_001019 IGHV363;V3-63P APPROVED pseudo 5616 VALIDATED 1347647 IGHV3OR16-13 immunoglobulin heavy variable 3/OR16-13 (non-functional) 16 p11.2 33629833 33630126 + 7951227 100287372 ABBA01007185;AC136428;AMYH01007613;NG_011771;Z29610 CAA82727 1680220 RH67822 IGHV3OR1613 pseudo 5637 INFERRED 1352012 IGHV3OR16-14 immunoglobulin heavy variable 3/OR16-14 (pseudogene) p11.2 7951227 100568447 Z29611 IGHV3OR1614 APPROVED pseudo 5638 1349167 IGHV3OR16-15 immunoglobulin heavy variable 3/OR16-15 (pseudogene) p11.2 7959766 28301 AC140658;L25546 IGHV3OR1615 APPROVED pseudo 5639 1352619 IGHV3OR16-16 immunoglobulin heavy variable 3/OR16-16 (pseudogene) p11.2 7951227 28300 AC142086;Z29613 IGHV3OR1616 APPROVED pseudo 5640 1345362 IGHV3OR16-12 immunoglobulin heavy variable 3/OR16-12 (non-functional) 16 p11.2 33605231 33605778 + 7951227 28304 ABBA01013614;AC136428;AMYH01007613;Z29609 CAA82726 IGHV3OR1612 pseudo 5636 MODEL 1353123 IGHV3OR16-11 immunoglobulin heavy variable 3/OR16-11 (pseudogene) 16 p11.2 33661269 33661819 - 7951227 28305 AC140658;AMYH01007613;Z29608 IGHV3OR1611 APPROVED pseudo 5635 MODEL 1344354 IGHV3OR16-7 immunoglobulin heavy variable 3/OR16-7 (pseudogene) 16 p11.2 33709445 33741266 - 7951227 28309 AC140658;AMYH01007621;Z29604 IGHV3OR167 APPROVED pseudo 5642 MODEL 1349246 IGHV3OR16-8 immunoglobulin heavy variable 3/OR16-8 28308 Z29605 5643 1352799 IGHV3OR16-9 immunoglobulin heavy variable 3/OR16-9 (non-functional) p11.2 7951227 28307 AC142381;Z29606 CAA82723 IGHV3OR169 pseudo 5644 1348229 IGHV4-30-1 immunoglobulin heavy variable 4-30-1 28399 L10098 5646 1342874 IGHV4-28 immunoglobulin heavy variable 4-28 14 105851556 105851990 - 28400 X05714 2186963 RH65984 5645 1345933 IGHV4-30-2 immunoglobulin heavy variable 4-30-2 8454861 28398 L10089 5647 1344694 IGHV4-31 immunoglobulin heavy variable 4-31 14 105876252 105876689 - 28396 L10098 1792436;2125530;2186963;5016350;5017143;5017296;5021504;5113752 A010A33;D14S1342;PMC151015P1;RH44825;RH47003;RH65984;RH66790;RH71306 5649 1350942 IGHV4-30-4 immunoglobulin heavy variable 4-30-4 28397 Z14238 5648 1352297 IGHV4-34 immunoglobulin heavy variable 4-34 14 105900637 105901069 - 28395 X92278 5650 1349744 IGHV4-4 immunoglobulin heavy variable 4-4 14 105549153 105549584 - 28401 X62112 5652 1351387 IGHV4-55 immunoglobulin heavy variable 4-55 (pseudogene) 14 14 14 q32.33 87000060 87000495 - 106133171 106133606 - 107062126 107062561 - 8490662 28393 AB019437;AB019438;AMYH01006101;M99685;NG_001019 2125530 RH47003 4-55P;IGHV455 APPROVED pseudo 5653 VALIDATED 1345151 IGHV3-75 immunoglobulin heavy variable 3-75 (pseudogene) 14 14 14 q32.33 87184940 87185409 - 106302953 106303422 - 107231908 107232377 - 7920635;19913121;20628086 28407 AB019437;AMYH01006101;NG_001019;Z27510 3-75P;IGHV375 APPROVED pseudo 5625 VALIDATED 1348956 IGHV4-59 immunoglobulin heavy variable 4-59 14 106154299 106154730 - 28392 L10088 5654 1352591 IGHV4-61 immunoglobulin heavy variable 4-61 14 106166169 106166606 - 28391 M29811 2122270 G36060 5655 1346822 IGHV4-80 immunoglobulin heavy variable 4-80 (pseudogene) 14 14 14 q32.33 87234029 87234432 - 106352039 106352439 - 107280994 107281394 - 9841928 28390 AB019437;ABBA01040607;AMYH01006101;NG_001019 4-80P;IGHV480 APPROVED pseudo 5656 VALIDATED 1350807 IGHV4-B immunoglobulin heavy variable 4-B (provisional) 28389 Z12367 5657 1353699 IGHV3OR16-6 immunoglobulin heavy variable 3/OR16-6 (pseudogene) 16 16 p11.2 32820856 32865655 + 32913355 32958154 + 7959766 647187 AC142086;AMYH01007569;AMYH01007570;AMYH01007571;AMYH01007572;AMYH01007573;AMYH01007574;AMYH01007575;AMYH01007576;AMYH01007577;AMYH01007578;L25545 IGHV3OR166 APPROVED pseudo 5641 MODEL 1343362 IGHV4OR15-8 immunoglobulin heavy variable 4/OR15-8 28317 A6NJ16 Z29598 5658 1349679 IGHV5-A immunoglobulin heavy variable 5-A (provisional) 28386 X92227 5661 1352160 IGHV6-1 immunoglobulin heavy variable 6-1 14 105476654 105477101 - 28385 X92224 5662 1344364 IGHV5-51 immunoglobulin heavy variable 5-51 14 106105772 106106207 - 28388 M99686 1678039;1767771 RH75970;RH79161 5659 1344982 IGHV7-27 immunoglobulin heavy variable 7-27 (pseudogene) 14 14 14 q32.33 86704576 86704989 - 105845131 105845544 - 106774086 106774499 - 8490662 28383 AB019439;ABBA01074095;AMYH01006101;M99643;NG_001019 7-27P;IGHV727 APPROVED pseudo 5663 VALIDATED 1349724 IGHV7-34-1 immunoglobulin heavy variable 7-34-1 (pseudogene) 14 14 14 q32.33 86771152 86771585 - 105904276 105904709 - 106833231 106833664 - 9841928 28382 AB019439;ABBA01074102;AMYH01006101;NG_001019 7-34.1P;IGHV7341 APPROVED pseudo 5664 VALIDATED 1345574 IGHV7-4-1 immunoglobulin heavy variable 7-4-1 57289 L10057 5665 1347539 IGHV7-56 immunoglobulin heavy variable 7-56 (pseudogene) 14 14 14 q32.33 87003706 87004140 - 106136817 106137251 - 107065772 107066206 - 3097326 28380 AB019437;AB019438;ABBA01040614;ABBA01040615;AMYH01006101;M29810;NG_001019 1740859 D14S1419 7-56P;IGHV756 APPROVED pseudo 5667 VALIDATED 1352456 IGHV4-39 immunoglobulin heavy variable 4-39 14 105948662 105949100 - 28394 L10094 2125530 RH47003 5651 1351699 IGHV7-81 immunoglobulin heavy variable 7-81 14 106353835 106354271 - 28378 Z27509 5669 1346861 IGHV@ immunoglobulin heavy variable group 1580863;6480464 1649888;3141924 3509 P01764 5545 147070 1352159 IGHVII-20-1 immunoglobulin heavy variable (II)-20-1 (pseudogene) 14 14 14 q32.33 86599948 86600446 - 105740510 105741010 - 106669465 106669965 - 9841928 28375 AB019440;ABBA01074094;AMYH01006101;NG_001019 4-20.1P;IGHVII201 APPROVED pseudo 5672 VALIDATED 1343081 IGHVII-26-2 immunoglobulin heavy variable (II)-26-2 (pseudogene) 14 14 14 q32.33 86701403 86701715 - 105841956 105842268 - 106770911 106771223 - 9841928 28373 AB019439;ABBA01074095;AMYH01006101;NG_001019 4-26.2P;IGHVII262 APPROVED pseudo 5674 VALIDATED 1345337 IGHVII-28-1 immunoglobulin heavy variable (II)-28-1 (pseudogene) 14 14 14 q32.33 86716178 86716432 - 105856731 105856983 - 106785686 106785938 - 9841928 28372 AB019439;ABBA01074095;AMYH01006101;NG_001019 4-28.1P;IGHVII281 APPROVED pseudo 5675 VALIDATED 1343403 IGHVII-30-1 immunoglobulin heavy variable (II)-30-1 (pseudogene) 14 14 q32.33 105869647 105869920 - 106798602 106798875 - 9841928 28371 AB019439;AMYH01006101;NG_001019 4-30.1P;IGHVII301 APPROVED pseudo 5676 VALIDATED 1352213 IGHVII-31-1 immunoglobulin heavy variable (II)-31-1 (pseudogene) 14 14 q32.33 105881586 105881688 - 106810541 106810643 - 9841928 28370 AB019439;AMYH01006101;NG_001019 BAA75041 4-31.1P;IGHVII311 APPROVED pseudo 5677 VALIDATED 1351214 IGHV7-40 immunoglobulin heavy variable 7-40 (pseudogene) 14 14 14 q32.33 86819203 86819405 - 105952309 105952511 - 106881264 106881466 - 8490662 28381 AB019439;ABBA01074103;AMYH01006101;M99644;NG_001019 7-40P;IGHV740 APPROVED pseudo 5666 VALIDATED 1354053 IGHVII-33-1 immunoglobulin heavy variable (II)-33-1 (pseudogene) 14 14 q32.33 105894366 105894639 - 106823321 106823594 - 9841928 28369 AB019439;AMYH01006101;NG_001019 4-33.1P;IGHVII331 APPROVED pseudo 5678 VALIDATED 1350344 IGHVII-1-1 immunoglobulin heavy variable (II)-1-1 (pseudogene) 14 14 14 q32.33 86341598 86342050 - 105481841 105482292 - 106410796 106411247 - 9841928 28377 AB019441;ABBA01074086;AMYH01006100;NG_001019 4-01.1P;IGHVII11 APPROVED pseudo 5670 VALIDATED 1350523 IGHVII-40-1 immunoglobulin heavy variable (II)-40-1 (pseudogene) 14 14 14 q32.33 86834783 86834859 - 105967890 105967966 - 106896845 106896921 - 9841928 28368 AB019438;ABBA01074107;AMYH01006101;NG_001019 4-40.1P;IGHVII401 APPROVED pseudo 5679 VALIDATED 1353840 IGHVII-44-2 immunoglobulin heavy variable (II)-44-2 (pseudogene) 14 14 14 q32.33 86888024 86888260 - 106021204 106021440 - 106950159 106950395 - 9841928 28366 AB019438;AMYH01006101;NG_001019 1752313 SHGC-106213 4-44.2P;IGHVII442 APPROVED pseudo 5681 VALIDATED 1350298 IGHVII-43-1 immunoglobulin heavy variable (II)-43-1 (pseudogene) 14 14 14 q32.33 86866632 86866841 - 105999760 105999968 - 106928715 106928923 - 9841928 28367 AB019438;ABBA01074110;AMYH01006101;NG_001019 4-43.1P;IGHVII431 APPROVED pseudo 5680 VALIDATED 1347468 IGHVII-46-1 immunoglobulin heavy variable (II)-46-1 (pseudogene) 14 14 14 q32.33 86909711 86909999 - 106042815 106043103 - 106971770 106972058 - 9841928 28365 AB019438;AMYH01006101;NG_001019 4-46.1P;IGHVII461 APPROVED pseudo 5682 VALIDATED 1353411 IGHVII-15-1 immunoglobulin heavy variable (II)-15-1 (pseudogene) 14 14 14 q32.33 86550554 86550824 - 105691266 105691536 - 106620221 106620491 - 9841928 28376 AB019440;ABBA01074094;AMYH01006101;NG_001019 4-15.1P;IGHVII151 APPROVED pseudo 5671 VALIDATED 1352222 IGHVII-53-1 immunoglobulin heavy variable (II)-53-1 (pseudogene) 14 14 14 q32.33 86993606 86993875 - 106126712 106126981 - 107055667 107055936 - 9841928 28362 AB019438;AMYH01006101;NG_001019 4-53.1P;IGHVII531 APPROVED pseudo 5685 VALIDATED 1352185 IGHVII-49-1 immunoglobulin heavy variable (II)-49-1 (pseudogene) 14 14 14 q32.33 86958259 86958529 - 106091361 106091631 - 107020316 107020586 - 9841928 28364 AB019438;AMYH01006101;NG_001019 4-49.1P;IGHVII491 APPROVED pseudo 5683 VALIDATED 1343001 IGHVII-51-2 immunoglobulin heavy variable (II)-51-2 (pseudogene) 14 14 14 q32.33 86978646 86978908 - 106111743 106112005 - 107040698 107040960 - 9841928 28363 AB019438;AMYH01006101;NG_001019 4-51.2P;IGHVII512 APPROVED pseudo 5684 VALIDATED 1353730 IGHVII-60-1 immunoglobulin heavy variable (II)-60-1 (pseudogene) 14 14 14 q32.33 87031640 87031908 - 106164755 106165023 - 107093710 107093978 - 9841928 28361 AB019437;AMYH01006101;NG_001019 4-60.1P;IGHVII601 APPROVED pseudo 5686 VALIDATED 1353897 IGHVII-65-1 immunoglobulin heavy variable (II)-65-1 (pseudogene) 14 14 14 q32.33 87066075 87066347 - 106198833 106199105 - 107127788 107128060 - 9841928 28359 AB019437;AMYH01006101;NG_001019 4-65.1P;IGHVII651 APPROVED pseudo 5688 VALIDATED 1352214 IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 (pseudogene) 14 14 14 q32.33 86650445 86650713 - 105790998 105791266 - 106719953 106720221 - 9841928 28374 AB019439;ABBA01074094;AMYH01006101;NG_001019 4-22.1P;IGHVII221 APPROVED pseudo 5673 VALIDATED 1349091 IGHVII-67-1 immunoglobulin heavy variable (II)-67-1 (pseudogene) 14 14 14 q32.33 87080696 87080845 - 106213455 106213604 - 107142410 107142559 - 9841928 28358 AB019437;AMYH01006101;NG_001019 4-67.1P;IGHVII671 APPROVED pseudo 5689 VALIDATED 1342623 IGHVII-74-1 immunoglobulin heavy variable (II)-74-1 (pseudogene) 14 14 14 q32.33 87182504 87182672 - 106300518 106300686 - 107229473 107229641 - 9841928 28357 AB019437;AMYH01006101;NG_001019 4-74.1P;IGHVII741 APPROVED pseudo 5690 VALIDATED 1346536 IGHVII-78-1 immunoglobulin heavy variable (II)-78-1 (pseudogene) 14 14 14 q32.33 87226868 87227142 - 106344881 106345155 - 107273836 107274110 - 9841928 28356 AB019437;AMYH01006101;NG_001019 4-78.1P;IGHVII781 APPROVED pseudo 5691 VALIDATED 1350113 IGHVII-62-1 immunoglobulin heavy variable (II)-62-1 (pseudogene) 14 14 14 q32.33 87044819 87045091 - 106177565 106177837 - 107106520 107106792 - 9841928 28360 AB019437;AMYH01006101;NG_001019 4-62.1P;IGHVII621 APPROVED pseudo 5687 VALIDATED 1354316 IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 (pseudogene) 14 14 14 q32.33 86507221 86507407 - 105647930 105648116 - 106576885 106577071 - 9841928 28352 AB019440;ABBA01074094;AMYH01006100;NG_001019 3-11.1P;IGHVIII111 APPROVED pseudo 5692 VALIDATED 1346164 IGHVIII-16-1 immunoglobulin heavy variable (III)-16-1 (pseudogene) 14 14 14 q32.33 86557767 86558071 - 105698481 105698785 - 106627436 106627740 - 9841928 28350 AB019440;ABBA01074094;AMYH01006101;NG_001019 3-16.1P;IGHVIII161 APPROVED pseudo 5694 VALIDATED 1351840 IGHVIII-26-1 immunoglobulin heavy variable (III)-26-1 (pseudogene) 14 14 14 q32.33 86696162 86696468 - 105836712 105837018 - 106765667 106765973 - 9841928 28347 AB019439;ABBA01074095;AMYH01006101;NG_001019 3-26.1P;IGHVIII261 APPROVED pseudo 5698 VALIDATED 1348317 IGHVIII-25-1 immunoglobulin heavy variable (III)-25-1 (pseudogene) 14 14 14 q32.33 86680655 86680896 - 105821205 105821446 - 106750160 106750401 - 9841928 28348 AB019439;ABBA01074095;AMYH01006101;NG_001019 3-25.1P;IGHVIII251 APPROVED pseudo 5697 VALIDATED 1343818 IGHVIII-13-1 immunoglobulin heavy variable (III)-13-1 (pseudogene) 14 14 14 q32.33 86529326 86529624 - 105670039 105670337 - 106598994 106599292 - 9841928 28351 AB019440;ABBA01074094;AMYH01006101;NG_001019 3-13.1P;IGHVIII131 APPROVED pseudo 5693 VALIDATED 1353669 IGHVIII-38-1 immunoglobulin heavy variable (III)-38-1 (pseudogene) 14 14 14 q32.33 86811872 86812164 - 105944980 105945272 - 106873935 106874227 - 9841928 28346 AB019439;ABBA01074103;AMYH01006101;NG_001019 3-38.1P;38-1;IGHVIII381 APPROVED pseudo 5699 VALIDATED 1351752 IGHVIII-47-1 immunoglobulin heavy variable (III)-47-1 (pseudogene) 14 14 14 q32.33 86925075 86925378 - 106058180 106058483 - 106987135 106987438 - 9841928 28344 AB019438;AMYH01006101;NG_001019 3-47.1P;IGHVIII471 APPROVED pseudo 5701 VALIDATED 1346545 IGHVIII-5-1 immunoglobulin heavy variable (III)-5-1 (pseudogene) 14 14 14 q32.33 86426243 86426341 - 105566943 105567041 - 106495898 106495996 - 9841928 28354 AB019440;ABBA01074091;AMYH01006100;NG_001019 3-05.1P;IGHVIII51 APPROVED pseudo 5702 VALIDATED 1343316 IGHVIII-5-2 immunoglobulin heavy variable (III)-5-2 (pseudogene) 14 14 14 q32.33 86432177 86432437 - 105572876 105573136 - 106501831 106502091 - 9841928 28353 AB019440;ABBA01074091;AMYH01006100;NG_001019 3-05.2P;IGHVIII52 APPROVED pseudo 5703 VALIDATED 1349609 IGHVIII-22-2 immunoglobulin heavy variable (III)-22-2 (pseudogene) 14 14 14 q32.33 86651771 86651958 - 105792324 105792511 - 106721279 106721466 - 9841928 28349 AB019439;ABBA01074094;AMYH01006101;NG_001019 3-22.2P;IGHVIII222 APPROVED pseudo 5696 VALIDATED 1352642 IGHVIII-44 immunoglobulin heavy variable (III)-44 (pseudogene) 14 14 14 q32.33 86872102 86872278 - 106005268 106005444 - 106934223 106934399 - 8490662 28345 AB019438;AMYH01006101;M99673;NG_001019 3-44P;IGHVIII44 APPROVED pseudo 5700 VALIDATED 1351684 IGHVIII-51-1 immunoglobulin heavy variable (III)-51-1 (pseudogene) 14 14 14 q32.33 86977431 86977737 - 106110533 106110839 - 107039488 107039794 - 9841928 28343 AB019438;AMYH01006101;NG_001019 3-51.1P;IGHVIII511 APPROVED pseudo 5704 VALIDATED 1351788 IGHVIII-2-1 immunoglobulin heavy variable (III)-2-1 (pseudogene) 14 14 14 q32.33 86397403 86397704 - 105538722 105539023 - 106467677 106467978 - 9841928 28355 AB019441;ABBA01074086;AMYH01006100;NG_001019 3-02.1P;IGHVIII21 APPROVED pseudo 5695 VALIDATED 1347559 IGHVIII-67-2 immunoglobulin heavy variable (III)-67-2 (pseudogene) 14 14 14 q32.33 87081405 87081503 - 106214164 106214262 - 107143119 107143217 - 9841928 28342 AB019437;AMYH01006101;NG_001019 3-67.2P;IGHVIII672 APPROVED pseudo 5705 VALIDATED 1348621 IGHVIII-82 immunoglobulin heavy variable (III)-82 (pseudogene) 14 14 14 q32.33 87240798 87241089 - 106358805 106359096 - 107287760 107288051 - 9841928 28338 AB019437;AMYH01006101;NG_001019 3-82P;IGHVIII82 APPROVED pseudo 5709 VALIDATED 1351217 IGHVOR15@ immunoglobulin heavy variable orphans on chromosome 15 7829065 3510 5711 1350346 IGHVIII-67-3 immunoglobulin heavy variable (III)-67-3 (pseudogene) 14 14 14 q32.33 87086917 87087191 - 106219676 106219950 - 107148631 107148905 - 9841928 28341 AB019437;AMYH01006101;NG_001019 3-67.3P;IGHV(III)-6;IGHVIII673 APPROVED pseudo 5706 VALIDATED 1342980 IGHVOR16@ immunoglobulin heavy variable orphans on chromosome 16 7829065;7959766 3511 5712 1353698 IGJP1 immunoglobulin J polypeptide pseudogene 1 8 8 q21.2 81896656 81898256 - 85891209 85892805 - 7916122 3513 ABBA01004017;AC142447;AMYH01018833;NG_009863;S74134 pseudo 5714 INFERRED 1342992 IGHVIII-76-1 immunoglobulin heavy variable (III)-76-1 (pseudogene) 14 14 14 q32.33 87193021 87193327 - 106311035 106311341 - 107239990 107240296 - 9841928 28339 AB019437;AMYH01006101;NG_001019 3-76.1P;IGHVIII761 APPROVED pseudo 5708 VALIDATED 1349016 IGHVIV-44-1 immunoglobulin heavy variable (IV)-44-1 (pseudogene) 14 14 14 q32.33 86883218 86883646 - 106016394 106016822 - 106945349 106945777 - 9841928 28337 AB019438;AMYH01006101;NG_001019 (IV)-44;4-44.1P;IGHVIV441 APPROVED pseudo 5710 VALIDATED 1353158 IGHVIII-67-4 immunoglobulin heavy variable (III)-67-4 (pseudogene) 14 14 14 q32.33 87089395 87089700 - 106222154 106222459 - 107151109 107151414 - 9841928 28340 AB019437;AMYH01006101;NG_001019 3-67.4P;IGHVIII674 APPROVED pseudo 5707 VALIDATED 1353657 IGKDEL immunoglobulin kappa deleting element or like 2 88912850 88913959 - 3086844 3515 X03957 5717 146780 1345887 IGKC immunoglobulin kappa constant 2 88937989 88938311 - 1580863;6480464;7240710 10354514 3514 P01834 J00241 1741233;1741493;1760013;1791932;2135173;2187355;5120111;5120113;5120115 D2S2846;GDB:179398;GDB:181248;GDB:196845;GDB:196846;GDB:196847;PMC133732P6;RH70349;SHGC-106094 5716 147200;614102 1353506 IGKJ1 immunoglobulin kappa joining 1 2 88942513 88942550 - 6480464 28950 J00242 5719 1344808 IGKJ2 immunoglobulin kappa joining 2 2 88942152 88942190 - 28949 J00242 5720 1343953 IGKJ3 immunoglobulin kappa joining 3 2 88941848 88941885 - 28948 J00242 5721 68450 IGHMBP2 immunoglobulin mu binding protein 2 This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008] 11 11 q13.3 68427895 68464645 + 68671319 68708069 + 737748;1580863;6480464;7240710 11528396 19157874;19299493;20031928;8349627;15231747;8493094;19158098;18802676;18187479;16964485;16752224;15797190;15599641;15290238;15106121;14702039;14681881;12547203;12477932;11292846;10049831;9507986;9439975;9110174;8619474;1714899;20441787;22965130;22157136;22999958 3508 F5GX64;F5H5K3;H3BRR1;P38935 AB208802;ABBA01023977;AF052128;AK091539;AK123166;AK312565;AMYH01003768;AMYH01003769;AP000808;BC000290;BC015666;BC025299;BC041808;BC052278;BC062312;BC080519;BC105088;BC105090;BE302389;CH471076;DB448398;L14754;L24544;M64979;NG_007976;NM_002180 AAA53082;AAA58611;AAA70430;AAH00290;AAH25299;AAI05089;AAI05091;BAD92039;BAG35460;EAW74729;NP_002171;P38935 Hs.503048 1659179;1773689;1776094;2119311;2120143;2163475 D11S4590;IGHMBP2;RH47914;SHGC-4167;STS-L14754;WI-15192 CATF1;FLJ34220;FLJ41171;HCSA;HMN6;SMARD1;SMUBP2;ZFAND7 ATP-dependent helicase IGHMBP2;DNA-binding protein SMUBP-2;GF-1;OTTHUMP00000237202;cardiac transcription factor 1;glial factor 1;immunoglobulin mu-binding protein 2;zinc finger, AN1-type domain 7 APPROVED protein-coding ENSG00000132740 5542 02736 600502;604320 REVIEWED 1349186 IGKJ5 immunoglobulin kappa joining 5 2 88941195 88941232 - 28946 J00242 2165163 RH68319 5723 1350357 IGKJ4 immunoglobulin kappa joining 4 2 88941513 88941550 - 28947 J00242 2165163 RH68319 5722 1351180 IGKJ@ immunoglobulin kappa joining group 7842 5718 146970 1348867 IGKV1-13 immunoglobulin kappa variable 1-13 2 89126602 89127078 - 28939 Z00010 5731 1346316 IGKV1-12 immunoglobulin kappa variable 1-12 2 89120836 89121310 - 28940 V01577 5730 1350693 IGKV1-16 immunoglobulin kappa variable 1-16 2 89180467 89180942 - 28938 J00248 5732 1353950 IGKV1-17 immunoglobulin kappa variable 1-17 2 89197948 89198423 - 28937 X72808 5733 1606309 IGKV1-22 immunoglobulin kappa variable 1-22 (pseudogene) 2 2 p12 89251344 89251811 - 89470229 89470696 - 8011175 28936 ABBA01153781;AC110080;AMYH01010629;AP001222;AP001243;NG_000834 A25;IGKV122 APPROVED pseudo 5734 VALIDATED 1606310 IGKV1-32 immunoglobulin kappa variable 1-32 (pseudogene) 2 2 p12 89334142 89334616 - 89553027 89553501 - 8011175 28934 AC110080;AMYH01010629;AP001219;AP001226;NG_000834 A15;A15a;IGKV132 APPROVED pseudo 5736 VALIDATED 1353789 IGKV1-35 immunoglobulin kappa variable 1-35 (pseudogene) 2 2 p12 89367568 89368042 - 89586453 89586927 - 8011175 28932 AC110080;AMYH01010629;AP001217;NG_000834;X71890 IGKV135;O16 APPROVED pseudo 5738 VALIDATED 1348598 IGKV1-33 immunoglobulin kappa variable 1-33 2 89348873 89349347 - 28933 M64856 5737 1348888 IGKV1-27 immunoglobulin kappa variable 1-27 2 89294023 89294497 - 28935 X63398 1659768;2178410 D18S549;D2S1786 5735 1353503 IGKV1-39 immunoglobulin kappa variable 1-39 2 89400498 89400972 - 28930 X59315 5740 1353729 IGKV1-6 immunoglobulin kappa variable 1-6 2 89046896 89047372 - 28943 M64858 5742 1348780 IGKV1-8 immunoglobulin kappa variable 1-8 2 89073043 89073512 - 28942 Z00014 5743 1347935 IGKV1-37 immunoglobulin kappa variable 1-37 2 89378136 89378610 - 28931 X59316 5739 1346056 IGKV1-9 immunoglobulin kappa variable 1-9 2 89090594 89091069 - 28941 Z00013 5744 1346135 IGKV1-5 immunoglobulin kappa variable 1-5 2 89027934 89028409 - 1580863;6480464 28299 P01602 Z00001 1741233;1741493;1761213;2135173;2180216;2187355;5120113 D2S2846;GDB:179398;GDB:181248;GDB:196846;RH66821;RH70349;SHGC-145223 5741 1346046 IGKV1D-12 immunoglobulin kappa variable 1D-12 2 89836021 89836495 + 28903 X17263 5746 1347822 IGKV1D-17 immunoglobulin kappa variable 1D-17 2 89758963 89759438 + 28900 X63392 5749 1345259 IGKV1D-16 immunoglobulin kappa variable 1D-16 2 89776410 89776885 + 28901 K01323 5748 1348481 IGKV1D-13 immunoglobulin kappa variable 1D-13 2 89830253 89830729 + 6480464 28902 X17262 5747 1343491 IGKV1D-27 immunoglobulin kappa variable 1D-27 (pseudogene) 2 2 p12 89644980 89645455 + 90007679 90008154 + 11298326;6087279 28898 AC009958;AC233264;AP001216;AP001224;NG_000833;Z00004 1659768;2178410 D18S549;D2S1786 A4;A4a;IGKV1D27 APPROVED pseudo 5751 VALIDATED 1606560 IGKV1D-32 immunoglobulin kappa variable 1D-32 (pseudogene) 2 2 p12 89604539 89605013 + 89967232 89967706 + 11298326 28897 AC009958;AC233264;AP001220;AP001235;NG_000833 IGKV1D32;O9 APPROVED pseudo 5752 VALIDATED 1346586 IGKV1D-33 immunoglobulin kappa variable 1D-33 2 89589921 89590395 + 6480464 28896 M64855 5753 1606559 IGKV1D-22 immunoglobulin kappa variable 1D-22 (pseudogene) 2 2 p12 89686856 89687323 + 90049551 90050018 + 11298326;8011175 28899 AC009958;AP001232;NG_000833 A9;IGKV1D22 APPROVED pseudo 5750 VALIDATED 1351934 IGKV1D-35 immunoglobulin kappa variable 1D-35 (pseudogene) 2 2 p12 89571166 89571640 + 89934124 89934598 + 11298326 28895 AC009958;AC233264;AP001220;NG_000833;X71894 IGKV1D35;O6 APPROVED pseudo 5754 VALIDATED 1350906 IGKV1D-37 immunoglobulin kappa variable 1D-37 28894 X71893 5755 1346160 IGKV1D-39 immunoglobulin kappa variable 1D-39 28893 X59312 5756 1343408 IGKV1D-42 immunoglobulin kappa variable 1D-42 2 89866370 89866836 + 28892 X72816 5757 1352280 IGKV1D-8 immunoglobulin kappa variable 1D-8 2 89897079 89897553 + 28904 Z00008 5759 1352839 IGKV1D-43 immunoglobulin kappa variable 1D-43 2 89886225 89886700 + 28891 X72817 5758 1602135 IGKV1OR-1 immunoglobulin kappa variable 1/OR-1 (pseudogene) 2853098 3531 M20813 IGKV1/OR-1;IGKV1OR1;IGKVPZ1 APPROVED pseudo 5760 1353188 IGKV1OR-2 immunoglobulin kappa variable 1/OR-2 (pseudogene) 9 69777474 69777957 - 1596359;2853098 3532 AL359955;AMYH01021297;NG_011657;X64640 IGKV1/OR-2;IGKV1OR2;IGKVPZ2 APPROVED pseudo 5761 INFERRED 1352379 IGKV1OR-3 immunoglobulin kappa variable 1/OR-3 (pseudogene) 9 9 q12 69634183 69636905 - 70394426 70396639 - 1596359 644731 BX284632;X64641 IGKV1/OR-3;IGKV1OR3;IGKVPZ3 APPROVED pseudo 5762 1347385 IGKV1OR-4 immunoglobulin kappa variable 1/OR-4 (pseudogene) 1596359 3534 X64642 IGKV1/OR-4;IGKV1OR4;IGKVPZ4 APPROVED pseudo 5763 1345957 IGKV1OR1-1 immunoglobulin kappa variable 1/OR1-1 (pseudogene) p13-q12 2853099 3525 AC244015;AMYH01001371;M20809;NG_011766 AAA36094 IGKV1/OR1-1;IGKV1OR11;IGKVP1 APPROVED pseudo 5764 INFERRED 1350476 IGKV1OR15-118 immunoglobulin kappa variable 1/OR15-118 pseudogene 2 p11.1 91000099 91043469 + 6480464 2853099 339562 AC018696;M20812;NG_011659;XM_001713985 AAA36095;XP_001714037 Hs.449972 IGKV1OR118;IGKVP2 pseudo 5765 1342629 IGKV1OR2-0 immunoglobulin kappa variable 1/OR2-0 28867 Y08392 5766 1344683 IGHV5-78 immunoglobulin heavy variable 5-78 (pseudogene) 14 14 14 q32.33 87212359 87212793 - 106330372 106330806 - 107259327 107259761 - 3396540;12477932;1373880;1903431 28387 AB019437;ABBA01040607;AMYH01006101;BC002792;NG_001019;X58398;X58399;X92213 AAH02792;CAA41297 Hs.81221 1857784;2163349 RH70844;SHGC-36156 5-78P;IGHV578;MGC3963 APPROVED pseudo 5660 VALIDATED 1352698 IGKV1OR2-6 immunoglobulin kappa variable 1/OR2-6 (pseudogene) 3037085 28865 X05103 IGKV1/OR2-6;IGKV1OR26 APPROVED pseudo 5770 1342671 IGKV1OR2-108 immunoglobulin kappa variable 1/OR2-108 28862 X51887 5767 147185 1354448 IGKV1OR2-3 immunoglobulin kappa variable 1/OR2-3 (pseudogene) 3037085 28866 X05102 IGKV1/OR2-3;IGKV1OR23 APPROVED pseudo 5769 1344205 IGKV1OR2-11 immunoglobulin kappa variable 1/OR2-11 (pseudogene) 2111145 28863 X51885 IGKV1OR211 APPROVED pseudo 5768 1353773 IGKV1OR2-9 immunoglobulin kappa variable 1/OR2-9 (pseudogene) 2111145 28864 X51879 IGKV1/OR2-9;IGKV1OR29 APPROVED pseudo 5771 1346651 IGKV1OR22-1 immunoglobulin kappa variable 1/OR22-1 (pseudogene) 22 22 q11.1 1035891 1037817 - 17413617 17415543 - 3083265 3530 ABBA01001460;AC006548;AMYH01012422;NG_011658;Z00040 IGKV1OR221;IGKVP5 APPROVED pseudo 5772 INFERRED 1348301 IGKV1OR22-5 immunoglobulin kappa variable 1/OR22-5 6087279 28850 Z00003 5773 1353891 IGKV2-10 immunoglobulin kappa variable 2-10 (pseudogene) 2 2 p12 89100604 89101297 - 89319489 89320182 - 6086934 28928 AC096767;AMYH01010629;AP001209;AP001231;NG_000834;Z00012 IGKV210;L7 APPROVED pseudo 5776 VALIDATED 1353601 IGKV2-14 immunoglobulin kappa variable 2-14 (pseudogene) 2 2 p12 89158630 89159395 - 89377515 89378280 - 8223863 28927 AC116654;AMYH01010629;AP001228;NG_000834;X72810 IGKV214;L3 APPROVED pseudo 5777 VALIDATED 3029189 IGKV1ORY-1 immunoglobulin kappa variable 1/ORY-1 (pseudogene) Y Y q11.21 12089069 12097414 - 13629413 13631274 - 9847074 439957 AC134879;XM_001714338;XM_001716705;XM_003403556 XP_001714390;XP_001716757;XP_003403604 IGKV1/ORY-1 APPROVED pseudo 37729 1351012 IGKV2-18 immunoglobulin kappa variable 2-18 (pseudogene) 2 2 p12 89209304 89210080 - 89428189 89428965 - 1551402 28926 AC116654;AMYH01010629;AP001243;NG_000834;X63400 A29;IGKV218 APPROVED pseudo 5778 VALIDATED 1606311 IGKV2-23 immunoglobulin kappa variable 2-23 (pseudogene) 2 2 p12 89252927 89253642 - 89471812 89472527 - 8011175 28924 AC110080;AMYH01010629;AP001222;AP001243;NG_000834 A24;IGKV223 APPROVED pseudo 5780 VALIDATED 1349374 IGKV2-19 immunoglobulin kappa variable 2-19 (pseudogene) 2 2 p12 89215579 89215845 - 89434464 89434730 - 3351922 28925 AC116654;AMYH01010629;AP001243;NG_000834;X12692 A28;IGKV219 APPROVED pseudo 5779 VALIDATED 1348441 IGKV2-24 immunoglobulin kappa variable 2-24 2 89256927 89257729 - 28923 X12684 1741233;1741493;2135173;2187355;5120113 D2S2846;GDB:179398;GDB:181248;GDB:196846;RH70349 5781 1349377 IGKV2-28 immunoglobulin kappa variable 2-28 2 89302294 89303027 - 28921 X63397 1761213 SHGC-145223 5783 1342503 IGKV2-26 immunoglobulin kappa variable 2-26 (pseudogene) 2 2 p12 89276679 89277432 - 89495564 89496317 - 17847085;8011175 28922 AC110080;AMYH01010629;AP001222;AP001238;NG_000834;X71884 A21;IGKV226 APPROVED pseudo 5782 VALIDATED 1349568 IGKV2-30 immunoglobulin kappa variable 2-30 2 89325379 89326164 - 28919 X63403 5785 1354436 IGKV2-29 immunoglobulin kappa variable 2-29 (gene/pseudogene) 2 2 p12 89314781 89315507 - 89533666 89534392 - 1551402 28920 AC110080;AMYH01010629;AP001226;NG_000834;X63396 A18;A18b;IGKV229 pseudo 5784 VALIDATED 1352208 IGKV2-4 immunoglobulin kappa variable 2-4 (pseudogene) 2 2 p12 89012284 89013011 - 89231169 89231896 - 8223863 28929 AC096767;AMYH01010629;AP001240;NG_000834;X72814 CAA51333 IGKV24;L13 APPROVED pseudo 5788 VALIDATED 1347129 IGKV2-36 immunoglobulin kappa variable 2-36 (pseudogene) 2 2 p12 89376096 89376329 - 89594981 89595214 - 8011175 28918 AC110080;AMYH01010629;AP001217;NG_000834;X71889 1756703;1757605 SHGC-143796;SHGC-145092 IGKV236;O15 APPROVED pseudo 5786 VALIDATED 1349614 IGKV2-38 immunoglobulin kappa variable 2-38 (pseudogene) 2 2 p12 89390775 89391014 - 89609660 89609899 - 8011175 28917 AC110080;AMYH01010629;AP001239;NG_000834;X71888 2155025 D21S1241 IGKV238;O13 APPROVED pseudo 5787 VALIDATED 1347989 IGKV2-40 immunoglobulin kappa variable 2-40 2 89410988 89411551 - 28916 X59314 5789 1346744 IGKV2D-10 immunoglobulin kappa variable 2D-10 (pseudogene) 2 2 p12 89856036 89856801 + 90218731 90219496 + 11298326;8223863;3927006 28890 ABBA01015164;AC073416;AP001210;AP001223;NG_000833;X17265 IGKV2D10;L21 APPROVED pseudo 5792 VALIDATED 1353585 IGKV2D-19 immunoglobulin kappa variable 2D-19 (pseudogene) 2 2 p12 89722943 89723209 + 90085638 90085904 + 11298326;8011175 28887 AC009958;AP001212;AP001236;NG_000833;X71882 A12;IGKV2D19 APPROVED pseudo 5795 VALIDATED 1354043 IGKV2D-24 immunoglobulin kappa variable 2D-24 2 89680942 89681744 + 28885 X63401 5797 1353283 IGKV2D-18 immunoglobulin kappa variable 2D-18 (pseudogene) 2 2 p12 89728733 89729509 + 90091428 90092204 + 11298326;1551402 28888 ABBA01000473;AC009958;AP001212;AP001236;NG_000833;X63395 A13;IGKV2D18 APPROVED pseudo 5794 VALIDATED 1342921 IGKV2D-26 immunoglobulin kappa variable 2D-26 2 2 p12 89662063 89662815 + 90024762 90025514 + 11298326;3351922 28884 AC009958;AC233264;AP001216;NG_000833;X12689 A5;IGKV2D26 pseudo 5798 VALIDATED 1349736 IGKV2D-28 immunoglobulin kappa variable 2D-28 2 89636130 89636862 + 28883 X12691 1761213 SHGC-145223 5799 1349672 IGKV2D-30 immunoglobulin kappa variable 2D-30 2 89613009 89613794 + 28881 X63402 5801 1606561 IGKV2D-23 immunoglobulin kappa variable 2D-23 (pseudogene) 2 2 p12 89685026 89686031 + 90047721 90048726 + 11298326;8011175;23213074 28886 AC009958;AP001232;NG_000833 A8;IGKV2D23 APPROVED pseudo 5796 VALIDATED 1353346 IGKV2D-29 immunoglobulin kappa variable 2D-29 2 89623657 89624386 + 28882 M31952 5800 1345468 IGKV2D-14 immunoglobulin kappa variable 2D-14 (pseudogene) 2 2 p12 89797944 89798709 + 90160639 90161404 + 11298326;8223863 28889 AC073416;AP001213;NG_000833;X72811 IGKV2D14;L17 APPROVED pseudo 5793 VALIDATED 1606562 IGKV2D-36 immunoglobulin kappa variable 2D-36 (pseudogene) 2 2 p12 89562873 89563106 + 89925831 89926064 + 11298326;8011175 28880 AC009958;AC233264;AP001221;NG_000833 1756703;1757605 SHGC-143796;SHGC-145092 IGKV2D36;O5 APPROVED pseudo 5802 VALIDATED 1348984 IGKV2D-40 immunoglobulin kappa variable 2D-40 28878 X59311 5804 1353082 IGKV2D-38 immunoglobulin kappa variable 2D-38 (pseudogene) 2 p12 89911273 89911512 + 11298326;8011175 28879 AC233264;AP001221;NG_000833;X71892 2155025 D21S1241 IGKV2D38;O3 APPROVED pseudo 5803 VALIDATED 1348675 IGKV2OR2-10 immunoglobulin kappa variable 2/OR2-10 (pseudogene) 2 97996726 97997444 - 2111145 28855 AC092683;AC159540;NG_011661;X51886 IGKV2OR210 APPROVED pseudo 5806 INFERRED 1345030 IGKV2OR2-1 immunoglobulin kappa variable 2/OR2-1 (pseudogene) 8011175;3037085 28861 X05101;X76074 IGKV2/OR2-1;IGKV2OR2-1A;IGKV2OR21;IGKV2OR21A APPROVED pseudo 5805 1343795 IGKV2OR2-2 immunoglobulin kappa variable 2/OR2-2 (pseudogene) q11.2 2111145 28859 AC018892;X51884 IGKV2/OR2-2;IGKV2OR22 APPROVED pseudo 5808 1353656 IGKV2OR2-7 immunoglobulin kappa variable 2/OR2-7 (pseudogene) 2 2 q11.2 97366906 97367743 - 98000700 98001604 - 2111145 652873 AC092683;AC159540;NG_011671;X51881 IGKV2/OR2-7;IGKV2OR27 APPROVED pseudo 5810 INFERRED 1350358 IGKV2OR2-4 immunoglobulin kappa variable 2/OR2-4 (pseudogene) 2111145 28858 X51883 IGKV2/OR2-4;IGKV2OR24 APPROVED pseudo 5809 3398733 IGKV2OR2-7D immunoglobulin kappa variable 2/OR2-7D (pseudogene) 2 q11.2 98037288 98038125 + 100310869 ABBA01187905;AC092683;NG_033269 APPROVED pseudo 37489 INFERRED 1345359 IGKV2OR22-3 immunoglobulin kappa variable 2/OR22-3 (pseudogene) 22 22 q11.1 1024487 1025100 - 17402214 17402827 - 3083265 3529 ABBA01001460;AC006548;AMYH01012422;NG_011670;Z00041 IGKV2OR223;IGKVP4 APPROVED pseudo 5812 INFERRED 1351147 IGKV2OR22-4 immunoglobulin kappa variable 2/OR22-4 (pseudogene) 22 22 q11 1017223 1018336 - 17394954 17396067 - 2853099 28847 ABBA01001460;AC006548;AMYH01012422;M20707;NG_011660 AAA36093 5124968 RH77903 IGKV2OR224;IGKVP6 APPROVED pseudo 5813 INFERRED 1353908 IGKV3-11 immunoglobulin kappa variable 3-11 2 89107783 89108296 - 28914 X01668 5815 1349622 IGKV3-15 immunoglobulin kappa variable 3-15 2 89165788 89166301 - 28913 M23090 2133800;2180216 RH66797;RH66821 5816 1345528 IGKV3-20 immunoglobulin kappa variable 3-20 2 89223172 89223706 - 28912 X12686 5817 1343856 IGKV3-25 immunoglobulin kappa variable 3-25 (pseudogene) 2 2 p12 89273094 89274871 - 89491979 89493756 - 2825139 28911 AC110080;AMYH01010629;AP001222;AP001238;NG_000834;X06583 A22;IGKV325 APPROVED pseudo 5818 VALIDATED 1353867 IGKV3-7 immunoglobulin kappa variable 3-7 2 89059102 89059618 - 28915 X02725 5821 1606312 IGKV3-31 immunoglobulin kappa variable 3-31 (pseudogene) 2 2 p12 89332799 89333336 - 89551684 89552221 - 8011175 28910 AC110080;AMYH01010629;AP001219;AP001226;NG_000834 A16;A16a;IGKV331 APPROVED pseudo 5819 VALIDATED 1348489 IGKV3D-11 immunoglobulin kappa variable 3D-11 2 89849045 89849558 + 28876 X17264 5823 1348791 IGKV3-34 immunoglobulin kappa variable 3-34 (pseudogene) 2 2 p12 89356128 89356660 - 89575013 89575545 - 8011175 28909 AC110080;AMYH01010629;AP001217;NG_000834;X71891 IGKV334;O17 APPROVED pseudo 5820 VALIDATED 1349711 IGKV3D-15 immunoglobulin kappa variable 3D-15 2 89791050 89791563 + 28875 X72815 2133800;2180216 RH66797;RH66821 5824 1343767 IGKV3D-20 immunoglobulin kappa variable 3D-20 2 89715082 89715616 + 6480464 28874 X12687 5825 1346075 IGKV3D-25 immunoglobulin kappa variable 3D-25 (pseudogene) 2 2 p12 89664611 89666369 + 90027310 90029068 + 11298326;8011175 28873 AC009958;AC233264;AP001216;NG_000833;X71886 A6;IGKV3D25 APPROVED pseudo 5826 VALIDATED 1351765 IGKV2OR2-8 immunoglobulin kappa variable 2/OR2-8 (pseudogene) 2 98041448 98046432 + 2111145 100996600 AC092683;AC159540;NG_011662;X51880 IGKV2/OR2-8;IGKV2OR28 APPROVED pseudo 5811 INFERRED 1604414 IGIP IgA-inducing protein homolog (Bos taurus) 5 5 5 q31 135581337 135584207 + 139485705 139488575 + 139505521 139508391 + 6480464 19201837;12477932;12874223;19322201;21074276 492311 A6NJ69 AB073888;ABBA01026440;AC011379;AMYH01015655;BC017422;BC041380;CD516511;CH471062;NM_001007189 A6NJ69;AAH17422;EAW62075;NP_001007190 Hs.696360 1735534;2178048 D5S1666E;SHGC-57373 C5orf53 IgA-inducing protein (Bos taurus);IgA-inducing protein homolog;OTTHUMP00000223658 APPROVED protein-coding ENSG00000182700 33847 17411 VALIDATED 1606563 IGKV3D-31 immunoglobulin kappa variable 3D-31 (pseudogene) 2 2 p12 89605819 89606356 + 89968512 89969049 + 11298326 28872 AC009958;AC233264;AP001220;AP001235;NG_000833 IGKV3D31;O10 APPROVED pseudo 5827 VALIDATED 1351936 IGKV3D-7 immunoglobulin kappa variable 3D-7 2 89911009 89911540 + 28877 X72820 5829 1348180 IGKV3D-34 immunoglobulin kappa variable 3D-34 (pseudogene) 2 2 p12 89582610 89583142 + 89945569 89946101 + 11298326 28871 AC009958;AC233264;AP001220;NG_000833;X71895 IGKV3D34;O7 immunoglobulin kappa variable 1d-34;immunoglobulin kappa variable 3D-34 APPROVED pseudo 5828 VALIDATED 1351330 IGKV3OR2-268 immunoglobulin kappa variable 3/OR2-268 7959772 3523 X74459 5830 1348328 IGKV3OR2-5 immunoglobulin kappa variable 3/OR2-5 (pseudogene) 2111145 28854 X51882 IGKV3/OR2-5;IGKV3OR25 APPROVED pseudo 5832 1346817 IGKV4-1 immunoglobulin kappa variable 4-1 2 88966203 88966784 + 1580863 28908 P06312 Z00023 1743659 GDB:364093 5834 1344381 IGKV6-21 immunoglobulin kappa variable 6-21 2 89240350 89240901 - 28906 X63399 5836 1354155 IGKV5-2 immunoglobulin kappa variable 5-2 2 88977926 88978415 + 28907 X02485 5835 1353245 IGKV6D-21 immunoglobulin kappa variable 6D-21 2 89697749 89698300 + 28870 X12683 5837 1343063 IGKV7-3 immunoglobulin kappa variable 7-3 (pseudogene) 2 2 p12 88995711 88996309 - 89214596 89215194 - 3137458 28905 AC096767;AMYH01010629;AP001211;AP001240;NG_000834;X12682 CAA31193 B1;IGKV73 APPROVED pseudo 5839 VALIDATED 1348502 IGKV@ immunoglobulin kappa variable group 3519 5728 146980 1347699 IGKVOR2@ Immunoglobulin kappa variable orphans on chromosome 2 2114012;2111145 3524 5840 1349723 IGLC1 immunoglobulin lambda constant 1 (Mcg marker) 22 21567557 21567874 + 1580863;6480464 3537 P01842;P0CG04 J00252 1712262;1744383;1774722;1776165;1847872;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;GDB:452623;RH71286;RH71287;RH71381;RH71387;STS-X51755 5855 147220 1348380 IGKV3OR22-2 immunoglobulin kappa variable 3/OR22-2 (pseudogene) 22 22 q11.1 1029214 1029608 - 17406940 17407334 - 3083265 3527 ABBA01001460;AC006548;AMYH01012422;NG_011767;Z00042 1677246 RH27886 IGKV3OR222;IGKVP3 APPROVED pseudo 5833 INFERRED 1346758 IGLC4 immunoglobulin lambda constant 4 (pseudogene) 22 22 22 q11.2 7067580 7067832 + 21582998 21583250 + 23252998 23253250 + 9074928;6273747;3122211 3540 ABBA01055099;AMYH01012639;D87023;J03009;NG_000002 1712262;1742083;1774722;2162026 D22S1243;G54039;GDB:190925;RH71286 IGLC APPROVED pseudo 5858 VALIDATED 1353213 IGLC3 immunoglobulin lambda constant 3 (Kern-Oz+ marker) 22 21578514 21578831 + 1580863 3539 P01842;P0CG06 J00254 1709446;1712262;1733404;1742083;1744383;1774722;1776165;1847872;2120289;2162026 D22S1243;D22S655;G54039;GDB:190925;GDB:452623;RH71286;RH71381;SHGC-81766;STS-M34515;STS-X51755 5857 1352037 IGLC2 immunoglobulin lambda constant 2 (Kern-Oz- marker) 22 21573158 21573510 + 1580863;6480464 3538 P01842;P0CG05 J00253 1712262;1733404;1742083;1774722;2162026 D22S1243;D22S655;G54039;GDB:190925;RH71286 5856 1343087 IGKV6D-41 immunoglobulin kappa variable 6D-41 2 89745835 89746387 + 28869 X12688 5838 1347985 IGLC5 immunoglobulin lambda constant 5 (pseudogene) 22 22 22 q11.2 7072377 7072685 + 21587794 21588102 + 23257794 23258102 + 6273747;3122211 3541 ABBA01055099;AMYH01012639;D87017;J03010;NG_000002 IGLC APPROVED pseudo 5859 VALIDATED 1351535 IGLC7 immunoglobulin lambda constant 7 22 21594768 21595085 + 28834 A0M8Q6 X51755 5861 1350362 IGLC6 immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene) 22 22 q11.2 21591707 21592030 + 23261707 23262030 + 10591208;11955599;3122211;6273747;814163 3542 P0CF74 ABBA01055099;AMYH01012639;D87017;J03011;NG_000002 AAA59111;P0CF74 1741411 GDB:181151 IGLC APPROVED pseudo 5860 VALIDATED 1353616 IGLCOR22-2 immunoglobulin lambda constant/OR22-2 (pseudogene) q12.2-q12.3 84086 AL021937 IGLC/OR22-2 APPROVED pseudo 15697 1346085 IGLJ2 immunoglobulin lambda joining 2 22 21571798 21571835 + 28832 M15641 1733404 D22S655 5864 1352227 IGLC@ immunoglobulin lambda constant group 3536 5854 1348665 IGLJ3 immunoglobulin lambda joining 3 22 21577168 21577205 + 6480464 28831 M15642 1712262;1733404;1774722;5021359;5021490;5024436;5111506 D22S1040;D22S1543;D22S655;G54039;RH71286;RH71287;RH71387 5865 1350177 IGLCOR22-1 immunoglobulin lambda constant/OR22-1 84096 AL008723 15696 1352982 IGLJ4 immunoglobulin lambda joining 4 22 21582740 21582777 + 28830 X51755 5866 1343526 IGLJ5 immunoglobulin lambda joining 5 22 21586443 21586480 + 28829 X51755 5867 1350061 IGLJ6 immunoglobulin lambda joining 6 22 21590336 21590373 + 28828 M18338 1741411 GDB:181151 5868 1354222 IGLJ7 immunoglobulin lambda joining 7 22 21593570 21593607 + 28827 X51755 5869 1348216 IGLJ@ immunoglobulin lambda joining group 8217 5862 147230 1349654 IGLL2P immunoglobulin lambda-like polypeptide 2, pseudogene This locus represents a pseudogene of immunoglobulin lambda-like polypeptide 1. However, it appears to be co-transcribed with an adjacent glucuronidase, beta pseudogene. The transcript including sequence for both pseudogenes is represented by NR_024448, GeneID 91316. [provided by RefSeq, Jul 2011] 22 q11.23 7754759 7755143 - 8406611;3003227 3544 AP000346;L02326 AAA16174 1743013 GDB:237864 16.2;FLAMBDA1;IGLL1P;IGLL2 APPROVED pseudo 5871 1342699 IGK immunoglobulin kappa locus 2 2 p12 89561552 89911540 - 89156874 89630436 - 6480464 19072568;17600686;17546032;16622520;16508097;15517630;15356136;12615002;12552516;12477932;12100030;22396784;20505143;10477713;9887257;22705988;21906983;22120970;22503879 50802 Q6PJF2 AC009958;AC073416;AC096579;AC096767;AC110080;AC113612;AC116654;AC233264;AF103353;AJ239369;AK129807;AMYH01010629;AP001209;AP001210;AP001211;AP001212;AP001213;AP001215;AP001216;AP001217;AP001218;AP001219;AP001220;AP001221;AP001222;AP001223;AP001224;AP001225;AP001226;AP001228;AP001229;AP001230;AP001231;AP001232;AP001233;AP001235;AP001236;AP001238;AP001239;AP001240;AP001241;AP001242;AP001243;AP001244;AP001245;AP001246;AP001248;AP001249;BC016380;BC030813;BC032451;BC062704;NG_000833;NG_000834 AAD20522;AAH16380;AAH30813;AAH32451;AAH62704;AAY14814;AAY24201;ADZ15883;BAC85236;CAB37162 Hs.449609;Hs.719895 1652373;1659768;1700874;1741233;1741493;1743659;1756703;1757605;1760013;1761213;1765139;1766541;1784018;1791932;2127441;2133800;2135173;2155025;2165163;2178410;2180216;2187355;5120115 D18S549;D21S1241;D2S1786;D2S2846;GDB:179398;GDB:181248;GDB:196847;GDB:364093;PMC133732P6;RH104063;RH66797;RH66821;RH68319;RH70349;SHGC-106094;SHGC-12268;SHGC-143796;SHGC-143963;SHGC-145092;SHGC-145223;SHGC-148658;SHGC-149860;SHGC-15049 FLJ26296;IGK@;IGKC;MGC22645;MGC27376;MGC40426;MGC71990 immunoglobulin kappa locus APPROVED protein-coding 5715 VALIDATED 1344872 IGLJ1 immunoglobulin lambda joining 1 22 21565961 21565998 + 28833 X04457 1744383;1847872 GDB:452623;STS-X51755 5863 1348633 IGLJCOR18 immunoglobulin lambda joining-constant/OR18 (pseudogene) 18 18 18 p11.31 3274454 3274885 + 3384783 3385414 + 3394884 3395315 + 6801526 204777 ABBA01049851;AMYH01008779;AP001025;J00255;NG_004787 IGLJ-C/OR18;IGLJ-COR18 APPROVED pseudo 28614 INFERRED 3129514 IGLL4P immunoglobulin lambda-like polypeptide 4, pseudogene 22 22 q11.21 4477802 4478038 + 20986877 20987113 + 3003227 100287528 ABBA01015450;AC007050;AMYH01012536;NG_021207;X04458 IGLL4 APPROVED pseudo 38475 INFERRED 1346144 IGLP1 immune response to synthetic polypeptides 1 7925 5873 147080 1349431 IGLP2 immune response to synthetic polypeptides 2 7926 5874 147090 1344721 IGLV1-36 immunoglobulin lambda variable 1-36 22 21116508 21116803 + 28826 Z73653 5876 1348756 IGLV1-40 immunoglobulin lambda variable 1-40 22 21094316 21094614 + 28825 M94116 5877 1320892 IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 4 4 q21 71740548 71751128 - 71521258 71532348 - 1580863;6480464 20237496;2984306;14718574;16740002;16335952;15342556;15084671;12477932;8683109;8666793;8253928;8196286;8168154;7664491;6774844;6417260;3146624;3016707;2415140;2120591;2113434;1472500;1292512;407930;115892;20947433;21906983 3512 C9JA05;D6RD17;D6RHJ6;P01591 ABBA01022933;ABBA01022934;AC009570;AK312014;AMYH01014280;BC038982;BP221304;BP261870;BP418109;CH471057;DQ884395;HD066556;M12759;NM_144646 AAA58902;AAH38982;ABI63362;BAG34952;CBU30463;EAX05626;NP_653247;P01591 Hs.643431;Hs.715953 2133941;2170906;2171862;2171939;2183715;5092794 A006E40;G32334;SHGC-24829;SHGC-33685;SHGC-50574;SHGC-59539 IGCJ;JCH IgJ chain;OTTHUMP00000160357;OTTHUMP00000216416;OTTHUMP00000219133;OTTHUMP00000219134;OTTHUMP00000219135;immunoglobulin J chain protein-coding ENSG00000132465 5713 00991 147790 VALIDATED 2302828 IGLON5 IgLON family member 5 19 19 19 q13.41 48866710 48885705 + 56506914 56525914 + 51815102 51834102 + 6480464 15057824 402665 A6NGN9 ABBA01068276;ABBA01068277;AC063977;AMYH01009952;CH471135;NM_001101372 A6NGN9;EAW72000;NP_001094842 Hs.546636 1783822 SHGC-154050 Ig-like domain-containing protein ENSP00000270642;OTTHUMP00000205644;hCG1651476;igLON family member 5 protein-coding ENSG00000142549 34550 PROVISIONAL 3362168 IGLL5 immunoglobulin lambda-like polypeptide 5 This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 22 22 q11.22 7044543 7052595 + 23229960 23238014 + 1703205;1900243;1760403;21906983 100423062 B9A064 AA847784;ABBA01055098;AJ318021;AJ318022;AJ319669;AJ319670;AJ319671;AMYH01012639;BG756003;D87023;M34515;M34518;NG_000002;NM_001178126;NM_001256296 AAA36098;AAA99887;B9A064;CAC50882;CAC51026;NP_001171597;NP_001243225 Hs.449585;Hs.625768 1712262;1744383;1774722;1776165;1847872;2120289;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;GDB:452623;RH71286;RH71287;RH71381;RH71387;STS-M34515;STS-X51755 G lambda-1;OTTHUMP00000230681;OTTHUMP00000230682;germline immunoglobulin lambda 1;immunoglobulin lambda-3 surrogate light chain;immunoglobulin lambda-like polypeptide 5;omega light chain protein 14.1 APPROVED protein-coding ENSG00000254709 38476 REVIEWED 1351121 IGLV1-47 immunoglobulin lambda variable 1-47 22 21042315 21042610 + 28822 Z73663 5880 1350159 IGLV1-44 immunoglobulin lambda variable 1-44 22 21065421 21065716 + 6480464 28823 Z73654 1712262;1774722;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;RH71286;RH71287;RH71387 5879 1343227 IGLV1-50 immunoglobulin lambda variable 1-50 22 21011876 21012174 + 28821 M94112 5881 1351842 IGLV1-51 immunoglobulin lambda variable 1-51 22 21007030 21007325 + 28820 Z73661 1678437;1698642;1756857;2176041;5093552 A009Q33;G32786;RH102878;RH38870;SHGC-144016 5882 1344651 IGLV10-54 immunoglobulin lambda variable 10-54 22 20899366 20899661 + 28772 Z73676 2136045 D22S306 5884 1353309 IGLV10-67 immunoglobulin lambda variable 10-67 (pseudogene) 22 22 22 q11.2 6215367 6215829 + 20728018 20728312 + 22397850 22398312 + 9074928;8951372 28771 ABBA01055078;AMYH01012639;D86993;NG_000002;Z73651 1729191 UniSTS:146579 IGLV1067;V1-25P APPROVED pseudo 5885 VALIDATED 1348002 IGLV11-55 immunoglobulin lambda variable 11-55 22 20886244 20886555 + 28770 D86996 5886 1345280 IGLV2-11 immunoglobulin lambda variable 2-11 22 21465196 21465492 + 28816 Z73657 5887 1606196 IGLL3P immunoglobulin lambda-like polypeptide 3, pseudogene 22 22 22 q11.23 9518568 9520538 + 24043888 24046192 + 25714224 25716194 + 6480464 8406611;3003227;1703205 91353 ABBA01055171;AL022324;AMYH01012677;CH471095;EG327472;M34514;M34516;NR_029395;X03529 AAA36097;CAA27230;EAW59689 Hs.651077;Hs.742554 1743013;1747365;5020919 G65409;GDB:237864;RH71379 16.1;IGLL3 APPROVED pseudo 5872 18481 VALIDATED 1349090 IGLV1-62 immunoglobulin lambda variable 1-62 (pseudogene) 22 22 22 q11.2 6258630 6258938 + 20771138 20771435 + 22441127 22441435 + 9074928 28819 ABBA01055078;AMYH01012639;D87022;NG_000002 IGLV162;V1-23P APPROVED pseudo 5883 VALIDATED 1345620 IGLV2-23 immunoglobulin lambda variable 2-23 22 21370610 21370906 + 28813 X14616 1686014 WIAF-2521 5890 1345246 IGLV2-33 immunoglobulin lambda variable 2-33 22 21260863 21261159 + 28811 Z73643 5892 1348337 IGLV2-28 immunoglobulin lambda variable 2-28 (pseudogene) 22 22 22 q11.2 6821688 6822146 + 21337117 21337401 + 23006943 23007401 + 9074928;8951372 28812 ABBA01055094;AMYH01012639;D86994;NG_000002;X97466 IGLV228;V1-8P APPROVED pseudo 5891 VALIDATED 1346087 IGLV1-41 immunoglobulin lambda variable 1-41 (pseudogene) 22 22 22 q11.2 6565974 6566974 + 21088758 21089053 + 22758592 22759053 + 9074928;1495496 28824 ABBA01055084;AMYH01012639;D87010;M94118;NG_000002 1698642;1756857;2176041;5093552 A009Q33;G32786;RH102878;SHGC-144016 IGLV141;V1-14P APPROVED pseudo 5878 VALIDATED 1343548 IGLV2-34 immunoglobulin lambda variable 2-34 (pseudogene) 22 22 22 q11.2 6742399 6742869 + 21252480 21252776 + 22922306 22922776 + 9074928 28810 ABBA01055087;AMYH01012639;D87013;NG_000002 IGLV234;V1-10P APPROVED pseudo 5893 VALIDATED 1342960 IGLV2-5 immunoglobulin lambda variable 2-5 (pseudogene) 22 22 22 q11.2 7013389 7013859 + 21528938 21529235 + 23198765 23199235 + 9074928;8951372 28818 ABBA01055098;AMYH01012639;D87024;NG_000002;Z73641 IGLV25;V1-1P APPROVED pseudo 5894 VALIDATED 1350535 IGLV2-8 immunoglobulin lambda variable 2-8 22 21495487 21495783 + 28817 X97462 5895 1354157 IGLV3-1 immunoglobulin lambda variable 3-1 22 21553288 21553572 + 28809 X57826 1709446 SHGC-81766 5896 1347728 IGLV3-10 immunoglobulin lambda variable 3-10 22 21484489 21484778 + 28803 X97464 5897 1353164 IGLV3-12 immunoglobulin lambda variable 3-12 22 21444786 21445075 + 28802 Z73658 5898 1343146 IGLV3-13 immunoglobulin lambda variable 3-13 (pseudogene) 22 22 22 q11.2 6919218 6919713 + 21434784 21435067 + 23104572 23105067 + 9074928;8951372 28801 ABBA01055095;AMYH01012639;D86998;D87015;NG_000002;X97463 IGLV313;V2-9P APPROVED pseudo 5899 VALIDATED 1348035 IGLV3-15 immunoglobulin lambda variable 3-15 (pseudogene) 22 22 22 q11.2 6912788 6913072 + 21428042 21428326 + 23098042 23098326 + 9074928 28800 ABBA01055094;AMYH01012639;D87015;NG_000002 IGLV315;V2-10P APPROVED pseudo 5900 VALIDATED 1348212 IGLV3-19 immunoglobulin lambda variable 3-19 22 21393351 21393640 + 28797 X56178 1337375 D22S686 5903 1351814 IGLV3-16 immunoglobulin lambda variable 3-16 22 21420119 21420408 + 28799 X97471 2148300 D22S556 5901 1351160 IGLV2-18 immunoglobulin lambda variable 2-18 22 21407281 21407577 + 28814 Z73642 5889 1353004 IGLV3-21 immunoglobulin lambda variable 3-21 22 21385395 21385684 + 28796 X71966 1776165;5021359;5021490;5111506 D22S1040;RH71287;RH71381;RH71387 5905 1343091 IGLV3-17 immunoglobulin lambda variable 3-17 (pseudogene) 22 22 22 q11.2 6896149 6896429 + 21411399 21411679 + 23081399 23081679 + 9074928;8951372 28798 ABBA01055094;AMYH01012639;D87015;NG_000002;X97472 IGLV317;V2-12P APPROVED pseudo 5902 VALIDATED 1344674 IGLV3-22 immunoglobulin lambda variable 3-22 22 21377020 21377303 + 28795 Z73666 5906 1352679 IGLV2-14 immunoglobulin lambda variable 2-14 22 21431404 21431700 + 6480464 28815 Z73664 5888 1350085 IGLV3-2 immunoglobulin lambda variable 3-2 (pseudogene) 22 22 22 q11.2 7029813 7030298 + 21545389 21545672 + 23215187 23215672 + 9074928;8951372 28808 ABBA01055098;AMYH01012639;D87024;NG_000002;X97468 IGLV32;V2-2P APPROVED pseudo 5904 VALIDATED 1346104 IGLV3-29 immunoglobulin lambda variable 3-29 (pseudogene) 22 22 22 q11.2 6818163 6818791 + 21333768 21334047 + 23003419 23004047 + 9074928;8951372 28790 ABBA01055094;AMYH01012639;D87002;NG_000002;Z73644 2122615 D22S1114 IGLV329 pseudo 5911 VALIDATED 1352617 IGLV3-27 immunoglobulin lambda variable 3-27 22 21340995 21341278 + 28791 D86994 5910 1349653 IGLV3-24 immunoglobulin lambda variable 3-24 (pseudogene) 22 22 22 q11.2 6852014 6852308 + 21367272 21367555 + 23037261 23037555 + 9074928;8028600 28794 ABBA01055094;AMYH01012639;D86994;NG_000002;X71968 IGLV324;V2-16P APPROVED pseudo 5907 VALIDATED 1351612 IGLV3-25 immunoglobulin lambda variable 3-25 22 21359456 21359745 + 28793 X97474 1334797;1337375;1650332;1679622;1686014;1698302;1709446;1712262;1718623;1733404;1734290;1742083;1744383;1774722;1776165;1777591;1778615;1847872;1854465;2106663;2109693;2111966;2120289;2122615;2129446;2135163;2142649;2148300;2162026;2163675;2168580;2181189;5021359;5021490;5024436;5111506;7185384 D22S1040;D22S1114;D22S1243;D22S1543;D22S1587;D22S425;D22S556;D22S563;D22S593;D22S655;D22S686;D22S940;D8S463;G18165;G54039;GDB:190925;GDB:452623;PRAME_9364;RH102691;RH122997;RH45724;RH48178;RH70693;RH71286;RH71287;RH71381;RH71387;RH93749;SHGC-57080;SHGC-81766;STS-AA017564;STS-M34515;STS-N26665;STS-X51755;SUHW2__5350;WIAF-2521 5908 1344557 IGLV3-32 immunoglobulin lambda variable 3-32 22 21267237 21267526 + 28787 Z73645 5914 1346403 IGLV3-31 immunoglobulin lambda variable 3-31 (pseudogene) 22 22 22 q11.2 6767088 6767580 + 21277366 21277655 + 22947163 22947655 + 9074928;8951372 28788 ABBA01055087;AMYH01012639;D87014;NG_000002;X97469 IGLV331;V2-22P APPROVED pseudo 5913 VALIDATED 1343976 IGLV3-4 immunoglobulin lambda variable 3-4 (pseudogene) 22 22 22 q11.2 7014620 7015101 + 21530198 21530477 + 23199996 23200477 + 9074928 28807 ABBA01055098;AMYH01012639;D87024;NG_000002 IGLV34;V2-3P APPROVED pseudo 5915 VALIDATED 1345637 IGLV3-7 immunoglobulin lambda variable 3-7 (pseudogene) 22 22 22 q11.2 6995392 6995690 + 21510778 21511065 + 23180767 23181065 + 9074928;8951372 28805 ABBA01055098;AMYH01012639;D87024;NG_000002;X97470 IGLV37;V2-5P APPROVED pseudo 5917 VALIDATED 1344709 IGLV3-9 immunoglobulin lambda variable 3-9 22 21491965 21492249 + 28804 X97473 5918 1351470 IGLV4-3 immunoglobulin lambda variable 4-3 22 21543901 21544212 + 28786 X57828 1712262;1774722;2162026;5021359;5021490;5024436;5111506 D22S1040;D22S1243;D22S1543;G54039;RH71286;RH71287;RH71387 5919 1349096 IGLV4-60 immunoglobulin lambda variable 4-60 22 20846776 20847074 + 28785 Z73667 5920 1349935 IGLV4-69 immunoglobulin lambda variable 4-69 22 20715572 20715870 + 28784 Z73648 5921 1345795 IGLV5-37 immunoglobulin lambda variable 5-37 22 21112060 21112371 + 28783 Z73672 5922 1345111 IGLV5-45 immunoglobulin lambda variable 5-45 22 21060563 21060874 + 28781 Z73670 5924 1342666 IGLV3-26 immunoglobulin lambda variable 3-26 (pseudogene) 22 22 22 q11.2 6830552 6830851 + 21345819 21346107 + 23015808 23016107 + 9074928;8951372 28792 ABBA01055094;AMYH01012639;D86994;NG_000002;X97467 IGLV326;V2-18P APPROVED pseudo 5909 VALIDATED 1343851 IGLV5-48 immunoglobulin lambda variable 5-48 22 21037470 21037781 + 28780 Z73649 5925 1351515 IGLV5-52 immunoglobulin lambda variable 5-52 22 21003265 21003581 + 28779 Z73669 5926 1351461 IGLV3-30 immunoglobulin lambda variable 3-30 (pseudogene) 22 22 22 q11.2 6781105 6781598 + 21291387 21291681 + 22961188 22961681 + 9074928;8951372 28789 ABBA01055087;AMYH01012639;D87014;NG_000002;Z73646 IGLV330;V2-21P APPROVED pseudo 5912 VALIDATED 1345923 IGLV6-57 immunoglobulin lambda variable 6-57 22 20880381 20880676 + 28778 Z73673 1777055;1778656 D22S585;FB3D9 5927 1344991 IGLV7-46 immunoglobulin lambda variable 7-46 22 21054162 21054455 + 28775 Z73674 5930 1346910 IGLV7-43 immunoglobulin lambda variable 7-43 22 21079534 21079827 + 28776 X14614 1851296 D22S626 5929 1350740 IGLV7-35 immunoglobulin lambda variable 7-35 (pseudogene) 22 22 22 q11.2 6612607 6612901 + 21134692 21134986 + 22804696 22804990 + 9074928;8951372 28777 ABBA01055084;AMYH01012639;D87009;NG_000002;Z73660 2142649 D22S593 IGLV735;V3-1P APPROVED pseudo 5928 VALIDATED 1344666 IGLV5-39 immunoglobulin lambda variable 5-39 28782 Z73668 5923 1344347 IGLV8-61 immunoglobulin lambda variable 8-61 22 20783327 20783622 + 28774 Z73650 1655366 D22S647 5931 1350125 IGLV8OR8-1 immunoglobulin lambda variable 8/OR8-1 (pseudogene) q11.2 9174619 28756 Y08831 IGLV8/OR8-1;IGLV8OR81 APPROVED pseudo 5932 1352179 IGLV9-49 immunoglobulin lambda variable 9-49 22 21027770 21028084 + 28773 Z73675 5933 1347357 IGLVI-20 immunoglobulin lambda variable (I)-20 (pseudogene) 22 22 22 q11.2 6872396 6872681 + 21387643 21387928 + 23057643 23057928 + 9074928 28769 ABBA01055094;AMYH01012639;D87007;NG_000002 1698302 RH102691 IGLV(I)-20;IGLVI20;V1-6P APPROVED pseudo 5934 VALIDATED 1348922 IGLV3-6 immunoglobulin lambda variable 3-6 (pseudogene) 22 22 22 q11.2 7007171 7007454 + 21522548 21522831 + 23192548 23192831 + 9074928;8951372 28806 ABBA01055098;AMYH01012639;D87024;NG_000002;X97465 IGLV36;V2-4P APPROVED pseudo 5916 VALIDATED 1350879 IGLVI-42 immunoglobulin lambda variable (I)-42 (pseudogene) 22 22 22 q11.2 6559290 6559748 + 21081537 21081827 + 22751369 22751827 + 9074928;2499871;1909789 28767 ABBA01055083;AMYH01012639;D86999;NG_000002;X14613 IGLV(I)-42;IGLVI42;V1-15P APPROVED pseudo 5936 VALIDATED 1350053 IGLVI-56 immunoglobulin lambda variable (I)-56 (pseudogene) 22 22 22 q11.2 6370568 6370863 + 20883124 20883419 + 22553124 22553419 + 9074928 28766 ABBA01055082;AMYH01012639;D86996;NG_000002 IGLV(I)-56;IGLVI56;V1-21P APPROVED pseudo 5937 VALIDATED 1343173 IGLVI-68 immunoglobulin lambda variable (I)-68 (pseudogene) 22 22 22 q11.2 6204818 6205121 + 20717311 20717603 + 22387300 22387603 + 9074928 28764 ABBA01055078;AMYH01012639;D86993;NG_000002 IGLV(I)-68;IGLVI68;V1-26P APPROVED pseudo 5939 VALIDATED 1345137 IGLVI-70 immunoglobulin lambda variable (I)-70 (pseudogene) 22 22 22 q11.2 6197990 6198467 + 20710659 20710951 + 22380474 22380951 + 9074928 28763 ABBA01055078;AMYH01012639;D86993;NG_000002 IGLV(I)-70;IGLVI70;V1-27P APPROVED pseudo 5940 VALIDATED 1345396 IGLVIV-59 immunoglobulin lambda variable (IV)-59 (pseudogene) 22 22 22 q11.2 6351035 6351358 + 20863555 20863878 + 22533555 22533878 + 9074928 28761 ABBA01055082;AMYH01012639;D87000;NG_000002 1778656 FB3D9 IGLV(IV)-59;IGLVIV59;V4-7P APPROVED pseudo 5942 VALIDATED 1343273 IGLVIV-64 immunoglobulin lambda variable (IV)-64 (pseudogene) 22 22 22 q11.2 6247099 6247595 + 20759775 20760093 + 22429597 22430093 + 9074928 28760 ABBA01055078;AMYH01012639;D87022;NG_000002 IGLV(IV)-64;IGLVIV64;V4-8P APPROVED pseudo 5943 VALIDATED 1346812 IGLVIV-53 immunoglobulin lambda variable (IV)-53 (pseudogene) 22 22 22 q11.2 6391486 6391972 + 20904213 20904525 + 22574039 22574525 + 9074928 28762 ABBA01055082;AMYH01012639;D86996;NG_000002 IGLV(IV)-53;IGLVIV53;V4-5P APPROVED pseudo 5941 VALIDATED 1351415 IGLV@ immunoglobulin lambda variable group 3923432 3546 5875 147240 1604768 IGLVIV-66-1 immunoglobulin lambda variable (IV)-66-1 (pseudogene) 22 22 22 q11.2 6230396 6230722 + 20742902 20743217 + 22412891 22413217 + 9074928 84097 ABBA01055078;AMYH01012639;D87004;NG_000002 APPROVED pseudo 15692 VALIDATED 1349537 IGLVIVOR22-1 immunoglobulin lambda variable (IV)/OR22-1 84088 AL008721 15694 1353385 IGLVIVOR22-2 immunoglobulin lambda variable (IV)/OR22-2 84087 AL021937 15695 1348293 IGLVI-63 immunoglobulin lambda variable (I)-63 (pseudogene) 22 22 22 q11.2 6251684 6252147 + 20764347 20764643 + 22434180 22434643 + 9074928 28765 ABBA01055078;AMYH01012639;D87022;NG_000002 IGLV(I)-63;IGLVI63;V1-24P APPROVED pseudo 5938 VALIDATED 1347208 IGL immunoglobulin lambda locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species. [provided by RefSeq, Jul 2008] 22 22 q11.2 20710659 21595085 + 22380474 23265085 + 6480464 3122211;6273747;10591208;18005388;17675156;16508097;12749909;12477932;11955599;11872955;9074928;8951372;7673721;7655473;6802926;6795508;6783958;3923432;3133312;2115572;1904362;1249422;814163;21504716;20637260;23608880;21646814;22503879;15174051;23376556;23303672 3535 ABBA01055078;ABBA01055079;ABBA01055080;ABBA01055081;ABBA01055082;ABBA01055083;ABBA01055084;ABBA01055085;ABBA01055086;ABBA01055087;ABBA01055088;ABBA01055089;ABBA01055090;ABBA01055091;ABBA01055092;ABBA01055093;ABBA01055094;ABBA01055095;ABBA01055096;ABBA01055097;ABBA01055098;ABBA01055099;AMYH01012639;D86989;D86991;D86993;D86994;D86996;D86998;D86999;D87000;D87002;D87003;D87004;D87006;D87007;D87009;D87010;D87011;D87013;D87014;D87015;D87016;D87017;D87018;D87020;D87021;D87022;D87023;D87024;D88269;D88270;D88271;NG_000002 ABM83568;ABM86805;ABM87078 1334797;1337375;1648684;1650332;1655366;1678437;1678495;1679622;1686014;1698302;1698642;1703818;1709446;1712262;1718623;1722459;1729191;1730559;1733230;1733404;1734288;1734290;1741411;1742083;1744383;1756857;1774722;1776165;1777055;1778615;1778656;1847872;1851296;1854465;2106663;2109693;2120289;2122615;2129446;2135163;2136045;2142649;2148300;2162026;2163675;2168580;2171916;2176041;2181189;5093552;5109535;7185384 A009Q33;D22S1114;D22S1243;D22S306;D22S308;D22S425;D22S547;D22S556;D22S563;D22S585;D22S593;D22S626;D22S636;D22S647;D22S654;D22S655;D22S686;D22S938;D22S939;D22S940;FB3D9;G18165;G32786;G54039;G61970;GDB:181151;GDB:190925;GDB:452623;PRAME_9364;RH102691;RH102878;RH122997;RH38870;RH45724;RH48178;RH70693;RH71286;RH71381;RH93749;SHGC-144016;SHGC-57080;SHGC-78957;SHGC-81766;STS-AA017564;STS-M34515;STS-N26665;STS-X51755;SUHW2__5350;UniSTS:146579;WIAF-2521;WIAF-2544 IGL@;IGLC6;MGC88804 ig lambda-6 chain C region;immunoglobulin lambda gene cluster APPROVED protein-coding 5853 REVIEWED 1604769 IGLVVI-25-1 immunoglobulin lambda variable (VI)-25-1 (pseudogene) 22 22 22 q11.2 6836153 6836616 + 21351570 21351869 + 23021407 23021870 + 9074928 84090 ABBA01055094;AMYH01012639;D86994;NG_000002 lambdavg3 APPROVED pseudo 15690 VALIDATED 1350516 IGLVIV-65 immunoglobulin lambda variable (IV)-65 (pseudogene) 22 22 22 q11.2 6242138 6242624 + 20754816 20755122 + 22424636 22425122 + 9074928 28759 ABBA01055078;AMYH01012639;D87022;NG_000002 IGLV(IV)-65;IGLVIV65;V4-9P APPROVED pseudo 5944 VALIDATED 1343450 IGLVVI-22-1 immunoglobulin lambda variable (VI)-22-1 22 21373237 21373526 + 84091 X71351 15689 1345116 IGLVVII-41-1 immunoglobulin lambda variable (VII)-41-1 (pseudogene) 22 22 22 q11.2 6560540 6560838 + 21082619 21082917 + 22752619 22752917 + 2499871 84089 AMYH01012639;D86999;NG_000002;X99568 lambdavg1 APPROVED pseudo 15691 VALIDATED 1350373 IGLVV-58 immunoglobulin lambda variable (V)-58 (pseudogene) 22 22 22 q11.2 6354414 6354721 + 20866973 20867280 + 22536973 22537280 + 9074928 28758 ABBA01055082;AMYH01012639;D87000;NG_000002 IGLV(V)-58;IGLVV58;V5-3P APPROVED pseudo 5945 VALIDATED 1606798 IGLVI-38 immunoglobulin lambda variable (I)-38 (pseudogene) 22 22 22 q11.2 6588245 6588535 + 21110325 21110615 + 22780325 22780615 + 9074928 28768 ABBA01055084;AMYH01012639;D87009;D87010;NG_000002 IGLV(I)-38;IGLVI38;V1-12P APPROVED pseudo 5935 VALIDATED 1606799 IGLVV-66 immunoglobulin lambda variable (V)-66 (pseudogene) 22 22 22 q11.2 6233163 6233474 + 20745667 20745969 + 22415658 22415969 + 9074928 28757 ABBA01055078;AMYH01012639;D87004;NG_000002 IGLV(V)-66;IGLVV66;V5-5P APPROVED pseudo 5946 VALIDATED 1344157 IGLL1 immunoglobulin lambda-like polypeptide 1 The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.23 22245312 22252495 - 23915312 23922495 - 1580863;6480464;6907045;7240710 2501791;18391951;16289162;15489334;12477932;11976493;11564802;10887125;10799888;10421777;9419212;9074928;9029104;8406611;7961773;3139558;3003227;2511029;2128466;2117639;1903358;1760403;1703205;16751776;21448238;23124203 3543 C9JEE0;P15814 ABBA01055116;AMYH01012646;AP000345;BC012293;BC030239;CH471095;M27749;M34513;NG_009791;NM_020070;NM_152855;X03528;X03530 AAA36096;AAA36100;AAH12293;AAH30239;ABM84504;ABM85566;CAA27229;CAA27231;EAW59583;EAW59584;NP_064455;NP_690594;P15814 Hs.348935 1743013;5020919;5024052 GDB:237864;RH71379;STS-M27749 14.1;AGM2;CD179b;IGL1;IGL5;IGLJ14.1;IGLL;IGO;IGVPB;VPREB2 CD179 antigen-like family member B;CD179b antigen;OTTHUMP00000198226;OTTHUMP00000198227;OTTHUMP00000198228;Pre-B lymphocyte-specific protein-2;ig lambda-5;immunoglobulin lambda-like polypeptide 1;immunoglobulin omega polypeptide chain;immunoglobulin-related 14.1 protein;immunoglobulin-related protein 14.1;lambda5 APPROVED protein-coding ENSG00000128322 5870 00905 146770;613500 REVIEWED 1352652 IGSF10 immunoglobulin superfamily, member 10 3 3 3 q25.1 149572109 149594842 - 152637167 152659187 - 151153778 151176497 - 737633;1580863;6480464 12477932 14702039;16344560;21832049 285313 H7C4M2;Q6WRI0 ABBA01058908;AC024886;AK093069;AK098838;AK128160;AMYH01013580;AY273815;BC031063;BC045734;CH471052;DB051634;DB054913;NM_001178145;NM_001178146;NM_178822 AAH31063;AAH45734;AAI56532;AAQ16156;BAC04042;BAC05429;BAC87305;EAW78798;EAW78799;NP_001171616;NP_001171617;NP_849144;Q6WRI0 Hs.58561 1687534;1699070;1729401;1761607;2106507 G54366;IGSF10__6450;RH103111;RH98359;SHGC-145600 CMF608;FLJ25972 OTTHUMP00000216775;calvaria mechanical force protein 608;immunoglobulin superfamily member 10 protein-coding 26384 13732 VALIDATED 5144523 IGSF11-AS1 IGSF11 antisense RNA 1 3 3 q13.32 117070430 117074852 + 118661923 118667088 + 12477932 100506765 ABBA01061589;AC007023;AMYH01013416;BC042737;BI829854;NR_046230 Hs.660823 1682091 RH94162 APPROVED miscrna ENSG00000239877 40777 VALIDATED 5132191 IGSF23 immunoglobulin superfamily, member 23 This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011] 19 19 19 q13.31 41920994 41944130 + 49808796 49830632 + 45116940 45140081 + 6480464 11329013;12477932 147710 A1L1A6;H0Y6S3;H0Y773;K7EL25 ABBA01040880;AC138472;AMYH01009842;BC127928;BC127929;BG197674;BX112065;CH471126;NG_030649;NM_001205280 A1L1A6;AAI27929;AAI27930;EAW57282;NP_001192209 Hs.512509 1340318;1645669;2159140;2163692;5093468 A009P21;D19S574;G32736;STS-R85380;WI-18539 OTTHUMP00000200173;hypothetical protein LOC147710;immunoglobulin superfamily member 23;uncharacterized protein LOC147710 APPROVED protein-coding ENSG00000216588 40040 REVIEWED 1353839 IGSF1 immunoglobulin superfamily, member 1 This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] X X X q25 130793906 130809827 - 130235161 130250936 - 130407480 130423403 - 1580863;6480464 8125298;11266516;18981173;16381901;16344560;15489336;12477932;12421765;11854097;11344214;11076863;9729118;9521868;9205841;23143598 3547 Q8N6C5 AB058894;ABBA01042119;AF034198;AK057916;AK226008;AK295438;AK307871;AL137369;AL590806;AMYH01022982;BC028312;BC063884;CH471107;DA195297;HC250963;HC311152;NG_021190;NM_001170961;NM_001170962;NM_001170963;NM_001555;NM_205833;Y10523 AAC52057;AAH63884;BAB40235;BAG58378;CAA71535;CAB70713;CAL37686;CAL37995;CAL38206;CAL38268;CBJ05779;CBJ21231;EAX11791;EAX11792;NP_001164432;NP_001164433;NP_001164434;NP_001546;NP_991402;Q8N6C5 Hs.22111 1646873;1658776;1662876;1703014;2123051;2127537 AL022498;RH16410;SHGC-33938;STS-H78267;WI-13557;sWXD1080 CHTE;IGCD1;IGDC1;INHBP;KIAA0364;MGC75490;PGSF2;p120 OTTHUMP00000024027;OTTHUMP00000024028;OTTHUMP00000024029;OTTHUMP00000024030;OTTHUMP00000024031;immunoglobulin superfamily member 1;immunoglobulin-like domain-containing protein 1;inhibin-binding protein;pituitary gland-specific factor 2 APPROVED protein-coding ENSG00000147255 5948 02138 300137;300888 REVIEWED 1318715 IGSF11 immunoglobulin superfamily, member 11 IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005] 3 3 3 q13.32 117027981 117273390 - 120102167 120347588 - 118619477 118864898 - 1580863;6480464 16108831;15795899;14702039;12975309;12851705;12477932;12207903;22318606;21982860;22952603;23251661 152404 C9IZX3;C9JAD3;C9JBA5;C9JMW0;Q5DX21 AA292896;AB071618;AB079879;ABBA01061587;ABBA01061588;ABBA01061589;ABBA01061590;AC007023;AC012032;AC068984;AC083800;AK097667;AK122611;AK292387;AK296503;AL834256;AMYH01013416;AMYH01013417;AY358141;BC034411;BI828564;CH471052;CQ789642;NM_001015887;NM_152538 AAH34411;AAQ88508;ACE86885;ACE87572;BAC05139;BAC07546;BAD90695;BAF85076;BAG53622;BAG59136;CAD38931;CAG24381;EAW79579;EAW79580;NP_001015887;NP_689751;Q5DX21 Hs.112873 1339878;1672779;1672781;1682091;1767131;1938826;2038350 A005Y20;D3S3664;G20594;NIB1484;REN40251;REN90194;RH94162 BT-IgSF;CT119;CXADRL1;Igsf13;MGC35227;VSIG3 CXADR like 1;OTTHUMP00000215138;OTTHUMP00000215139;OTTHUMP00000215140;OTTHUMP00000215225;OTTHUMP00000215226;V-set and immunoglobulin domain containing 3;V-set and immunoglobulin domain-containing protein 3;brain and testis-specific immunoglobin superfamily protein;brain and testis-specific immunoglobulin superfamily protein;cancer/testis antigen 119;immunoglobulin superfamily member 11 APPROVED protein-coding ENSG00000144847 16669 16321 608351 VALIDATED 1601807 IGSF22 immunoglobulin superfamily, member 22 11 11 11 p15.1 18861714 18883614 - 18682428 18704353 - 18725852 18747777 - 6480464 16344560;14702039;12477932 283284 Q8N9C0 AA255875;ABBA01061047;ABBA01061048;AC103974;AI952274;AK095113;AMYH01003429;AMYH01003430;BC115396;BC115397;DA338373;NM_173588 AAI15398;BAC04488;NP_775859;Q8N9C0 Hs.434152 1655723;1762893;2138482;2175689 A004A23;RH11974;SHGC-146649;SHGC-32421 FLJ37794 OTTHUMP00000218334;OTTHUMP00000218335;immunoglobulin superfamily member 22 protein-coding ENSG00000179057 26750 08229 VALIDATED 1317196 IGSF3 immunoglobulin superfamily, member 3 1 1 1 p13 115345546 115438824 - 116918554 117011837 - 117117031 117210314 - 6480464 14702039;12477932;9790749;9455484;21139048 3321 O75054 AB007935;ABBA01068489;ABBA01068490;ABBA01068491;ABBA01068492;AF031174;AI968231;AK097809;AL355794;AL356748;AMYH01000970;BC110651;BC130279;BC144132;BU189125;CH471122;NM_001007237;NM_001542 AAC72013;AAI10652;AAI30280;AAI44133;ACE86759;ACE87446;BAA32311;BAC05175;EAW56657;EAW56658;EAW56659;NP_001007238;NP_001533;O75054 Hs.171057 1656725;2174414;2174416 A001Y14;G19973;RH44261 EWI-3;MGC117164;V8 OTTHUMP00000024367;OTTHUMP00000024368;glu-Trp-Ile EWI motif-containing protein 3;immunoglobin superfamily, member 3;immunoglobulin superfamily member 3 protein-coding ENSG00000143061 5950 04602 603491 VALIDATED 1346066 IHG1 iris hypoplasia with glaucoma 1 7240710 3548 5954 1602849 IGSF21 immunoglobin superfamily, member 21 This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011] 1 1 1 p36.13 16764091 17034739 + 18306827 18577563 + 18434240 18704977 + 6480464 19240061;16710414;16303743;16169070;15489334;14702039;12477932;20379614;20932654;21441570;21900206 84966 H0Y415;Q96ID5 ABBA01059730;ABBA01059731;ABBA01059732;ABBA01059733;ABBA01059734;AK075316;AK092618;AK123172;AK294121;AL050342;AL356101;AL359738;AL365209;AMYH01000304;AMYH01000305;BC007618;BF939845;CH471134;CQ783449;NG_027535;NM_032880 AAH07618;ACE86912;ACE87599;BAC11542;BAG53875;BAG57454;CAF86651;EAW94848;NP_116269;Q96ID5 Hs.212511 1339307;1657388;1691852;1732868;1732896;1732956;1754279;1758165;1781590;2160126;2180275 AL033982;D1S1295;D1S1312;D1S1345;D1S2826;G35004;G35006;HSCZSE052;SHGC-132294;SHGC-147560;SHGC-149400 FLJ41177;MGC15730;RP11-121A23.1 OTTHUMP00000002532;immunoglobulin superfamily member 21 APPROVED protein-coding ENSG00000117154 28246 11309 REVIEWED 1352549 IGSF5 immunoglobulin superfamily, member 5 21 21 21 q22.2 26314757 26371484 + 40039204 40095893 + 41117334 41174023 + 6480464 14702039;12477932;10830953;12773569;16832352;20379614;21347282 150084 Q9NSI5 ABBA01009331;AF121782;AK092516;AL163280;AMYH01012253;BC114922;NM_001080444 AAI56233;AAI57007;BAG52565;CAB90447;NP_001073913;Q9NSI5 Hs.422120 1793996;1855681 PMC310729P3;STS-N32631 GSF5;JAM4 JAM-4;OTTHUMP00000109184;immunoglobulin superfamily 5 like;immunoglobulin superfamily member 5;junctional adhesion molecule 4 protein-coding ENSG00000183067 5952 610638 PROVISIONAL 1604824 IGSF9B immunoglobulin superfamily, member 9B 11 11 11 q25 130958989 131000543 - 133290395 133332090 - 133778459 133782257 - 14702039;12975309;10470851;10737800;23251661 22997 E9PI25;E9PRP3;G5EA26;H0YDP1;H3BTG1;Q8N7W7;Q9UPX0 AB028953;AB231704;ABBA01031108;ABBA01031109;AI208637;AK097578;AMYH01004144;AMYH01004145;AMYH01004146;AP000911;AP001979;AY358228;BG009128;NM_001277285;NM_014987;XM_001720450;XM_003960502;XM_933688 AAQ88595;BAA82982;BAC05109;BAE46874;NP_001264214;NP_055802;Q9UPX0;XP_001720502;XP_003960551;XP_938781 Hs.204121;Hs.440476 1299904;1335347;1738185;1758789;1764083;7185694 D11S3815;D11S4112;D11S968;SHGC-147741;SHGC-150570 KIAA1030 OTTHUMP00000235240;OTTHUMP00000235241;immunoglobulin superfamily member 9B;immunoglobulin superfamily, member 9B;protein turtle homolog B protein-coding ENSG00000080854;ENSG00000254918 32326 613773 VALIDATED 1343123 IGSF6 immunoglobulin superfamily, member 6 16 16 16 p12.2 21334354 21345720 - 21560107 21571473 - 21652605 21663987 - 633060;1580863;6480464 9809579 12786995;12477932;11132146;8125298;21832049 10261 H3BNM0;O95976 ABBA01008651;AC092719;AJ223183;AJ278581;AK223286;AK290910;AK293703;AK313860;AMYH01007355;AV717532;BC017844;CD369238;CH878403;NM_005849 AAH17844;ABM82939;ABM86128;ABW03678;ABW03775;BAD97006;BAF83599;BAG36588;BAH11575;CAA11155;CAC20440;EAW50523;NP_005840;O95976 Hs.530902 1685986;5118444 D11S3316;RH65112 DORA OTTHUMP00000115880;down-regulated by activation (immunoglobulin superfamily);immunoglobulin superfamily member 6 protein-coding ENSG00000140749 5953 06938 606222 VALIDATED 1322991 IGSF8 immunoglobulin superfamily, member 8 This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] 1 1 q23.1 158327754 158335032 - 160061129 160068618 - 6480464 11504738;19107234;18382656;17785435;16690612;16537545;15489334;15070678;14702039;14662754;12752121;12750295;12708969;12477932;11673522;22689882;21163940;21343309;22360420;21987572;21139048 93185 C9J8Z4;Q969P0 ABBA01016617;AF311906;AF407274;AK055843;AK090396;AK308115;AL121987;AMYH01001450;AY044845;AY157579;BC004108;BC011896;BC023649;BC053881;BU172537;CH471121;DB501388;NG_030031;NM_001206665;NM_052868 AAH04108;AAH11896;AAH23649;AAH53881;AAK92220;AAL01052;AAM94901;AAO13163;BAB71027;BAC03377;EAW52743;EAW52744;EAW52745;EAW52746;NP_001193594;NP_443100;Q969P0 Hs.743982 1855971;2132799 RH41942;SGC31907 CD316;CD81P3;EWI-2;EWI2;KCT-4;LIR-D1;PGRL CD81 partner 3;OTTHUMP00000025751;OTTHUMP00000025753;glu-Trp-Ile EWI motif-containing protein 2;immunoglobulin superfamily member 8;keratinocytes-associated transmembrane protein 4;prostaglandin regulatory-like protein APPROVED protein-coding ENSG00000162729 17813 09438 606644 REVIEWED 1312078 IGSF9 immunoglobulin superfamily, member 9 1 1 1 q22-q23 132965270 132983825 - 158163455 158182010 - 159896829 159915386 - 6480464 14702039;12975309;12477932;11991715;10718198;8889548;16169070 57549 Q9P2J2 AB037776;ABBA01016617;AI758999;AK056650;AL513485;AMYH01001448;AY203932;AY358128;BC030141;CH471121;CK299326;NM_001135050;NM_020789 AAH30141;AAP34455;AAQ88495;ABM84562;ABM87853;BAA92593;EAW52756;EAW52757;EAW52758;NP_001128522;NP_065840;Q9P2J2 Hs.591472 FP18798;IGSF9A;KIAA1355;Nrt1 OTTHUMP00000024411;OTTHUMP00000024415;immunoglobulin superfamily member 9A;protein turtle homolog A protein-coding ENSG00000085552 18132 10001 609738 VALIDATED 1350368 IHH indian hedgehog This gene encodes a member of the hedgehog family of secreted signaling molecules. Hedgehog proteins are essential regulators of a variety of developmental processes including growth, patterning and morphogenesis. The encoded protein specifically plays a role in bone growth an differentiation. Mutations in this gene are the cause of brachydactyly type A1 which is characterized by shortening or malformation of the phalanges. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Feb 2010] 2 2 q33-q35 219627390 219633433 - 219919142 219925238 - 1600032;1600033;1580863;5510013;5510025;6480464;6484113;6907045;7240710 11455389;12632327;20716670;20844013 11476578;19453261;19445942;19213939;19074837;18829534;18788453;18629882;18391952;18391951;17962696;17486609;17387386;17360475;16871364;16335952;16322088;15839736;15489334;15146555;15105288;14770182;14651602;14520411;12917489;12525541;12477932;12384778;12368206;12176676;11435703;10462495;10050855;9811851;9186520;8824192;7720571;7590746;22234151;22406540;20546612;20724312;18698484;19277064;19464397;19856079;20007344;20189936;20400458;20683927;20846217;21167467;20854074;20881264;20839884;21640343;21642379;22469853;22123293;22507129;22318606;20881960;21988832;22486854;22750747 3549 Q14623;Q4ZFW8 AB018076;ABBA01023853;AC097468;AI802733;AMYH01011503;BC034757;BC136587;BC136588;CH471063;CS126482;CS464812;L38517;NG_016741;NM_002181 AAA62178;AAH34757;AAI36588;AAI36589;AAX88920;BAA33523;CAJ18810;CAM31803;EAW70675;NP_002172;Q14623 Hs.654504 1744511;2108791;2161729;2161731 GDB:511564;IHH_7807;RH78911;SGC35345 BDA1;HHG2 HHG-2;Indian hedgehog homolog;OTTHUMP00000206322;indian hedgehog protein APPROVED protein-coding ENSG00000163501 5956 02839 112500;600726;607778 REVIEWED 1626258 IKBKGP1 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1 X X X q28 153945427 153953200 + 153520760 153529845 - 153867666 153876549 - 11709543 246210 ABBA01029065;AC244107;AF277315;AMYH01023318;NG_001576 1801028;1804238;1806584;1816208;1819900;1822792;1823580;1825206;1832626;1836138;1839152;1841086;1841920;1842870;2038026;2038030;2038032;2038034;2038036;2038214;2038216;2038218;2038220;2038222;2038224;2102662;2102664;2102666;2102668;2102670;2102672;2102762;2102764;2102766;2102768;2102770;2102772;2187569;2219160 A006S22;ECD01380;ECD03042;ECD04249;ECD09144;ECD11020;ECD12484;ECD12881;ECD13704;ECD17453;ECD19230;ECD20755;ECD21736;ECD22162;ECD22642;IKBKG_3230;REN90027;REN90029;REN90030;REN90031;REN90032;REN90126;REN90127;REN90128;REN90129;REN90130;REN90131;stSG604140;stSG604141;stSG604142;stSG604144;stSG604145;stSG604146;stSG604202;stSG604205;stSG604206;stSG604208;stSG604209;stSG604210 IKBKGP;deltaNEMO APPROVED pseudo 24455 INFERRED 1605589 IKBIP IKBKB interacting protein 12 12 12 q23.1 98672181 98703485 - 97531313 97562720 - 99007182 99038829 - 6480464 15389287;14702039;12477932;17207965;21832049;22939629;20360068;21139048;19322201;22268729 121457 Q3B7K3;Q70UQ0 ABBA01053282;ABBA01053283;AC013283;AJ539425;AJ539426;AJ539427;AK055613;AK123069;AMYH01004691;AMYH01004692;BC029415;BC051372;BC058933;BC107572;BM468651;CH471054;NM_153687;NM_201612;NM_201613 AAH29415;AAH51372;AAH58933;AAI07573;ADQ32545;BAB70970;BAC85528;CAD62380;CAD62381;CAD62382;CAD62383;EAW97601;EAW97602;NP_710154;NP_963906;NP_963907;Q70UQ0 Hs.252543 2156337;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;L18426;RH48145 FLJ31051;IKIP I kappa B kinase interacting protein;IKBKB-interacting protein;IKK interacting protein;IKK-interacting protein;OTTHUMP00000243252;OTTHUMP00000243253;OTTHUMP00000243254;i kappa-B kinase-interacting protein;inhibitor of nuclear factor kappa-B kinase-interacting protein APPROVED protein-coding ENSG00000166130 26430 08092 609861 VALIDATED 1347168 IK IK cytokine, down-regulator of HLA II The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008] 2 5 5 q31.3 136104129 136118812 + 140007568 140022249 + 140027384 140042065 + 1580863;6480464 7970704;19064678;16169070;14702039;12477932;11407974;10216252;9160666;9110174;8619474;8125298;14499622;20677014;19845895;20237496;21509594;21832049;22939629;22586326;22351768;18624398;21139048;21693764;21890473;21906983;19471022;22190034;22505724;22797925 3550 D6RAH1;D6RAY9;D6RCQ4;D6REL4;E7EQZ7;Q13123;Q95HA6;Q9UK43 ABBA01026423;AC005369;AC116353;AF182645;AJ005579;AK097968;AK225924;AK293626;AK308730;AK312363;AL050296;AMYH01015661;AY007094;BC013005;BC051295;BC071964;CH471062;NM_006083;S74221 AAB32531;AAD55447;AAG01985;AAH13005;AAH71964;BAG35281;BAG57083;CAA06607;CAB43395;EAW62028;EAW62029;EAW62030;NP_006074;Q13123 Hs.421245 1739967;1768463;2127317;2135827;2135829 A001W31;D13S1216;D5S1760;G19719;RH78886 CSA2;MGC59741;RED IK factor;OTTHUMP00000223684;RD element;chondrosarcoma-associated protein 2;cytokine IK;prer protein;protein Red APPROVED protein-coding ENSG00000113141 5958 02771 600549 REVIEWED 734035 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008] 9 9 q31 110669621 110736217 - 111629800 111696608 - 1580863;5129156;5129157;5129155;5129158;5129159;6480464;7240710 11179008;11281413;11179021;12774215;11097445 11714725;11818576;10094049;14667819;15383276;19185337;9751059;19262425;19258923;19247692;19015235;18434448;18303054;18264947;18091349;17703412;17644305;17591626;17206408;17137217;16964593;16713582;16344560;14743216;14702039;12577200;12477932;12116234;12102458;12058026;8125298;8102296;16169070;21145461;22586326;21273291;11747609;19651702;20098615;20361209;20503287;19834596;19913121;20628086;20301359;21098405;20671422;22863883;22939629;21209961;16196087;17314511;21559466;21963094;22678362;23275444;21900206;21903422;21139048;21890473;22384137;22495984;19380743;22505724;22797925 8518 F5H2T0;H0YDF3;O95163;Q8N516 AB210033;ABBA01042777;AF044195;AF153419;AK001641;AK022559;AK024223;AK123257;AK127237;AK225798;AK289962;AK304742;AL049945;AL354797;AL359692;AMYH01021618;BC033094;BF968300;BX648204;CH471105;CR749385;DA400136;NG_008788;NM_003640 AAC64258;AAG43369;AAH33094;BAE06115;BAF82651;BAG50955;BAG51092;BAG51274;BAG53883;BAG54459;BAG65501;CAB43219;CAH18235;EAW59027;EAW59028;EAW59029;EAW59030;EAW59031;NP_003631;O95163 Hs.494738 1735918;1739183;1749973;1752991;1796070;1855717;2118181;2121824;2156066 D9S1055E;D9S1646;D9S2068;IKBKAP_749;SHGC-111681;SHGC-77920;STS-N27516;WI-14914;WI-16073 DKFZp781H1425;DYS;ELP1;FD;FLJ12497;IKAP;IKI3;TOT1 IKK complex-associated protein;OTTHUMP00000021869;elongator acetyltransferase complex subunit 1;elongator complex protein 1;ikappaB kinase complex-associated protein;inhibitor of kappa light polypeptide enhancer in b-cells, kinase complex-associated protein;p150 APPROVED protein-coding ENSG00000070061 5959 04763 223900;603722 REVIEWED 1312328 IKZF4 IKAROS family zinc finger 4 (Eos) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002] 12 12 12 q13 56067374 56084906 + 54700956 54718486 + 56414689 56432219 + 6480464 15494726;10978333;18198356;16344560;14702039;12444977;12015313;11347906;10218586;22561518;20596022;19696312;18255255;21804548;21829393;22951725 64375 F8VPL6;F8VW19;G5E9S4;Q9H2S9 AB058685;ABBA01008398;ABBA01008399;AC034102;AF230809;AK055063;AK122880;AK314543;AMYH01004497;BX647761;CH471054;DA797441;NM_022465 AAG39221;AAI60169;BAB47411;BAG37131;BAG53777;EAW96872;EAW96873;EAW96874;NP_071910;Q9H2S9 Hs.553221 1340027;1851464;2151241;2218160 D12S1632;RH45768;RH69851;ZNFN1A4_3673 EOS;KIAA1782;ZNFN1A4 OTTHUMP00000243022;OTTHUMP00000243025;OTTHUMP00000243026;ikaros family zinc finger protein 4;zinc finger protein Eos;zinc finger transcription factor Eos APPROVED protein-coding ENSG00000123411 13179 05874 606239 VALIDATED 733968 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011] 8 8 p11.2 42247986 42309122 + 42128820 42190171 + 1580863;2292150;2292172;6480464;6484113;6907045 12655295;18267068 16319058;9346484;9346485;9813230;15790681;9744859;10723127;19453261;19270264;19258923;19202066;19141566;19109741;19104039;19050262;18990758;18952604;18657515;18636537;18600306;18571841;18490760;18434448;18411264;18408758;18316610;18308615;18266324;18260825;18163512;18037881;18029348;17997719;17962807;17947699;17939994;17703412;17693255;17684021;17616684;17466952;17446166;17419715;17363905;17244613;17237423;17145747;17114296;17079871;17016640;16998237;16989899;16982623;16966325;16938294;16728640;16583354;16365431;16280329;16267042;16207722;16177806;16135815;16126728;16123045;16082226;16046471;16024783;15951441;15880043;15837793;15761153;15749833;15564333;15492226;15489334;15489227;15456791;15383283;15319427;15254232;15226300;15217951;15140882;15128824;15084260;14990741;14743216;14715628;14702039;14625285;14585990;14585847;14585846;14560022;14514672;12890679;12842894;12707358;12657630;12645577;12637324;12589056;12547194;12492477;12486112;12477932;12411322;12393548;12351658;12070292;11971985;11954826;11945026;11864612;11839743;11815618;11777949;11606564;11594795;11585904;11527961;11460167;11429546;11359906;11158290;11120819;11002417;10968790;10962033;10848580;10783893;10779355;10755617;10722755;10713178;10521409;10485711;10469655;10356400;10195894;10022904;9878263;9819420;9763654;9751060;9751059;9721103;9689078;9346241;9214631;8657102;8601309;17182689;11959143;17891179;18207244;11057907;18180283;11096118;19150425;11278268;10807933;9891086;9632806;15856023;15802604;15494311;12210728;12133833;15808510;10497169;11821416;12612076;16393995;16611882;17213322;20167598;20368414;20600852;20614026;21670849;21784860;22637744;10733566;11976329;14654787;15389287;15601829;16286467;16291755;16344560;16997282;17047224;18692471;19488402;19526344;19573080;19591457;19594441;19675099;19716809;19728335;19730683;19773279;19786027;19818716;20007573;20051109;20056178;20068038;20145131;20152798;20331378;20448286;20503287;9252186;9520446;20347815;20568250;20933503;21048031;20176108;20627395;19243472;20410276;20448038;20421348;15276183;20465575;20529849;20657549;20371626;12482991;16424386;20098747;20693425;19656241;12054687;20856938;20925653;21248029;18362886;20803413;21399639;15856005;20977779;22824620;22848663;16840786;21575199;22990857;23123196;21810613;21482671;21317297;20005846;21390216;16051665;19365808;19850743;20932476;21220427;18626576;19196987;19820708;20026656;16603398;21606193;21987722;21993219;19815509;20164171;20797629;21474709;21903422;21911292;22022389;22099304;21139048;21703539;22766331;22331067;21798539;12244103;15218148;16497931;16547522;16906147;16920630;17977820;18456659;18957422;18981174;21204785;21331078;21606198;22511786;9914500;21803029;21985298;22605335;22262057;10980203;11080499;11830587;12459277;12709429;14597638;15184390;21724995;12486103;15125834;17363973;17568778;18266467;18583959;20434986;21811235;21988832;22891964;23453969;23386606;23032264;23090968;22863883;23016877;23108365;23349803;23636414;18949366;22955948;11113112;12943667;17000764;17287217;19422324;20449947;21029719;21344388;23007157 3551 B3KRB7;E5RFG5;E5RFT3;E5RGA0;E5RGW5;E5RIW0;E5RJH2;G3V105;J3KNS5;O14920 AB209090;ABBA01021152;ABBA01021153;AC083973;AF029684;AF031416;AF080158;AI379342;AK091090;AK091297;AK093537;AK095687;AK097828;AK290952;AK298241;AK302723;AK303294;AK303528;AK316418;AL708460;AMYH01018678;AMYH01018679;AY663108;BC006231;BC090865;BC108694;BC127663;BC141978;BC144080;BX648165;CH471080;DA043516;DA105584;DA159382;DA709000;NM_001190720;NM_001242778;NM_001556;NR_033818;NR_033819;NR_040009 AAC51860;AAC64675;AAD08997;AAH06231;AAI08695;AAI27664;AAI41979;AAT65965;BAD92327;BAF83641;BAG52329;BAG60507;BAG63942;BAG64369;BAG64556;BAH14789;EAW63222;EAW63223;EAW63224;EAW63225;EAW63226;NP_001177649;NP_001229707;NP_001547;O14920 Hs.597664 1680902;1703258;2118008;5015861;5022200;5022588;5022651;7185938 D10S16;D11S2921;D5S1597E;L18426;RH104595;RH75091;STS-N21119 FLJ33771;FLJ36218;FLJ38368;FLJ40509;IKK-beta;IKK2;IKKB;MGC131801;NFKBIKB I-kappa-B kinase 2;I-kappa-B-kinase beta;IKK-B;OTTHUMP00000225854;OTTHUMP00000225858;OTTHUMP00000225860;OTTHUMP00000225865;OTTHUMP00000225866;inhibitor of nuclear factor kappa-B kinase subunit beta;nuclear factor NF-kappa-B inhibitor kinase beta APPROVED protein-coding 5960 04462 603258 REVIEWED 1315971 IKZF3 IKAROS family zinc finger 3 (Aiolos) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012] 17 17 q21 35174724 35273967 - 37913968 38020441 - 1580863;6480464;6484113 10552935;19124506;18978678;18332232;18206652;18184862;17646674;17383641;17296582;17117180;12477932;12015313;11997672;11937265;11745366;11714801;10978333;10766745;10369681;9806640;9155026;9560339;16189514;10204490;20453842;20639880;21102463;12574333;19458352;19540588;20432734;21139082;21297633;23022380;21906983;22464253;18029348;22626592;23000144;23128233 22806 B4DVV5;Q69BM3 ABBA01031852;ABBA01031853;ABBA01031854;ABBA01031855;ABBA01031856;AC079199;AC090844;AF086054;AF129512;AI866838;AJ292565;AJ292566;AJ292567;AJ292568;AJ292569;AK128436;AK301250;AK303495;AMYH01008376;AY377973;AY377975;AY377976;AY377977;AY377978;AY377979;AY377980;AY377981;AY377982;BC032707;CH471152;NG_029104;NM_001257408;NM_001257409;NM_001257410;NM_001257411;NM_001257412;NM_001257413;NM_001257414;NM_012481;NM_183228;NM_183229;NM_183230;NM_183231;NM_183232;NR_047559;NR_047560;NR_047561 AAF13493;AAH32707;AAR84584;AAR84586;AAR84587;AAR84588;AAR84589;AAR84590;AAR84591;AAR84592;AAR84593;ABZ92305;ADZ15403;BAG62817;BAG64529;CAC80427;CAC80428;CAC80429;CAC80430;CAC80431;EAW60604;EAW60605;EAW60606;EAW60607;EAW60608;EAW60609;NP_001244337;NP_001244338;NP_001244339;NP_001244340;NP_001244341;NP_001244342;NP_001244343;NP_036613;NP_899051;NP_899052;NP_899053;NP_899054;NP_899055;Q9UKT9 Hs.371680 1675533;1701304;1749971;1777337;2186716;2218158;5014063;5015961;5016478;5016596;5016781;5021369;5022322;5024756;5037552;5092650 A005M19;D11S2560;D15S1390;D15S1477;D8S2279;G32239;GDB:434012;GDB:631802;L17796;RH104281;RH46016;RH76539;RH80030;SHGC-111679;SHGC-67307;ZNFN1A3_3785 AIO;AIOLOS;ZNFN1A3 OTTHUMP00000164335;OTTHUMP00000164336;OTTHUMP00000164337;OTTHUMP00000164338;OTTHUMP00000164339;OTTHUMP00000164340;OTTHUMP00000164341;OTTHUMP00000164342;OTTHUMP00000164343;OTTHUMP00000164344;OTTHUMP00000164345;OTTHUMP00000164346;ikaros family zinc finger protein 3;zinc finger protein Aiolos APPROVED protein-coding 13178 05869 606221 REVIEWED 1345718 IKZF1 IKAROS family zinc finger 1 (Ikaros) This gene encodes a transcription factor that belongs to the family of zinc-finger DNA binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. All isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homodimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and contain the nuclear localization signal, resulting in members with and without DNA-binding properties. Only few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and thought to function as dominant negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2011] 7 7 p13-p11.1 50411725 50440293 + 50344378 50367358 + 1580863;6480464 8543809;19285729;19282287;19131787;19129520;19116116;19114560;18838475;18650450;18483254;18408710;18332232;17681952;17476278;17383641;17357110;16364975;16205638;16189514;16081070;15618287;15489334;15390181;12799380;12690205;12626565;12477932;12412579;12200376;12127581;12094252;12015313;22106042;11959865;11937265;11908734;11812772;11799125;11489963;10978333;10766745;10753856;10577847;10357820;10218586;10204490;9892693;9560339;9155026;8964602;7935426;1439790;22157735;22323189;21102463;20139093;16344560;21169835;17207965;19760754;21048031;20919861;18464116;19589926;19620299;19620627;19668339;19684603;19684604;19770381;19796813;19838193;19862010;20042726;20233627;20346360;20432734;20516000;20596648;20445578;20508609;19454010;21102428;21270240;20684991;11003653;21329675;22660188;23022380;22868968;22441210;21737484;21889209;21900206;21960589;21383526;20680283;21792038;21740479;22368272;23236436;22150303;22046141;22231443;21548011;22301782;22297722;22382891;23608171;21988832;22699455;22848414;22868967;23016962;23128233;23222517;23273568;23382691;22859015;22922568;22931634;23071339;23512250;23752268;22505724;22997141 10320 C9JTB0;Q13422;Q3T907;Q69BM4 AACC02000075;AACC02000076;ABBA01008170;ABBA01011801;AC124014;AC233268;AF116605;AF432219;AK303586;AK308411;AM085310;AMYH01017244;AMYH01017245;AY377974;BC018349;BC064594;BC075820;BF797348;BI767330;BT009836;BU665456;CA447462;CH236955;CH471128;DA944555;JX459579;NM_001220765;NM_001220766;NM_001220767;NM_001220768;NM_001220769;NM_001220770;NM_001220771;NM_001220772;NM_001220773;NM_001220774;NM_001220775;NM_001220776;NM_006060;S80876;U40462 AAB50683;AAC50459;AAF71030;AAH18349;AAL99925;AAP88838;AAR84585;ADQ32789;AGI59420;BAG64603;CAJ29975;EAL23900;EAL23901;EAW60977;EAW60978;EAW60979;EAW60980;EAW60981;EAW60982;NP_001207694;NP_001207695;NP_001207696;NP_001207697;NP_001207698;NP_001207699;NP_001207700;NP_001207701;NP_001207702;NP_001207703;NP_001207704;NP_001207705;NP_006051;Q13422 Hs.435949;Hs.488251;Hs.731495 1661611;1790535;1790541;2146790;2153489;2172265;2183405;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;GDB:1318324;HSC183_(GAP_102_G);HSC186_(GAP_20_X);RH64966;RH65205;SGC33450;SHGC-36405 Hs.54452;IK1;IKAROS;LYF1;PRO0758;ZNFN1A1;hIk-1 CLL-associated antigen KW-6;DNA-binding protein Ikaros;Ikaros (zinc finger protein);OTTHUMP00000208887;OTTHUMP00000208888;OTTHUMP00000208889;OTTHUMP00000208890;ikaros family zinc finger protein 1;lymphoid transcription factor LyF-1;zinc finger protein, subfamily 1A, 1 (Ikaros) APPROVED protein-coding ENSG00000185811 13176 04318 603023 REVIEWED 1318602 IKZF2 IKAROS family zinc finger 2 (Helios) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 q34 213572653 213724578 - 213864408 214016333 - 1580863;6480464 18332232;17681952;17297655;15489334;12752680;12477932;12153174;12115658;11937265;10978333;10541817;9560339;9512513;12015313;12943985;22753928;19913121;20628086;19198610;19860791;20226531;20432734;23022380;21570917;21918685;23409157;23752268;23088713;23365462;22931634;23359504;22505724 22807 B4DWF2;C9JCG7;C9JTM9;E7EPU0;E7ES26;E7EUI1;E9PC76;E9PCF3;E9PCY1;F5H8M1;Q9UKS7 ABBA01062767;ABBA01062768;AC013736;AC079610;AC108066;AF130863;AI458439;AK301503;AL157504;AMYH01011477;AY008294;AY587062;AY587063;AY587064;AY587065;AY587066;AY587067;AY587068;AY587069;AY587070;AY587071;AY587072;AY587073;BC028936;CH471063;NM_001079526;NM_016260 AAF09441;AAG22856;AAH28936;AAS99855;AAS99856;AAS99857;AAS99858;AAS99859;AAS99860;AAS99861;AAS99862;AAS99863;AAS99864;AAS99865;AAS99866;AAX93263;AAY24238;AAY24327;ABZ92398;ADZ16068;BAG63014;EAW70502;EAW70503;EAW70504;EAW70505;EAW70506;EAW70507;EAW70508;EAW70509;EAW70510;EAW70511;EAW70512;EAW70513;EAW70514;NP_001072994;NP_057344;Q9UKS7 Hs.604950 1697426;1704340;1713493;1775207;2127990;2147725;2218156 261ZE1;AFM337xf1;D2S1380;RH102213;RH120230;SHGC-78138;ZNFN1A2_3786 ANF1A2;HELIOS;MGC34330;ZNF1A2;ZNFN1A2 OTTHUMP00000163964;OTTHUMP00000163965;OTTHUMP00000206629;OTTHUMP00000206709;ikaros family zinc finger protein 2;zinc finger DNA binding protein Helios;zinc finger protein Helios;zinc finger protein, subfamily 1A, 2 (Helios) APPROVED protein-coding ENSG00000030419 13177 05872 606234 REVIEWED 1347094 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011] X X q28 153423653 153446455 + 153770459 153793261 + 1600008;1580863;2292150;2292172;6480464;6484113;6907045;7240710 10839543;12655295;18267068 15125833;16831874;11047757;11113112;15601829;9927690;9751060;9744859;10723127;19453261;19365808;19327867;19305025;19185524;19149237;19033441;18957422;18851874;18841575;18685082;18511905;18350553;18313693;18287044;18266324;18207244;18201555;17977820;17932497;17910706;17766391;17702576;17468758;17401626;17401323;17314097;17244613;17145747;17043643;17000764;16906147;16794254;16737960;16684768;16611882;16583354;16497931;16379012;16360037;16319058;16148947;15870263;15749833;15601896;15578091;15489334;15456791;15356572;15341735;15229184;15184390;15100680;14764716;14754897;14743216;14726382;14695475;14684825;14651848;14597638;14585847;12943667;12917691;12867425;12657630;12612076;12530972;12477932;12192055;12138192;12133833;12045264;11971985;11971901;11877453;11864612;11830587;11709543;11673821;11590134;11551959;11495908;11418127;11410370;11256614;11242109;11224521;11080499;11064457;10968790;10962033;10962024;10944468;10880512;10755617;10364167;10087442;9891086;17891179;17942533;18216269;18617513;18180283;18347055;11057907;14585990;14653779;15327770;15802604;12435599;20529958;20586999;21109981;10980203;11389905;12459277;12808104;15231748;15620648;15833158;16227629;16267042;16301747;16697380;17047224;17135271;19373245;19404319;19603533;19656162;19687056;19763089;19854204;19948975;19956647;20026645;20065354;20098747;20164171;20167598;20301198;20353939;20368414;20380930;20434027;21286028;18029348;20211142;20724660;20542322;16424386;16543241;20932476;11002417;20923877;15276183;14748687;15474016;20301645;20412081;20499091;20890435;21220427;12917689;12917690;21057728;21458669;20484576;19880420;22939629;23000966;22901541;19875381;22732732;23123196;17948050;19531477;21383699;21474709;21518757;21622571;16627981;17997719;20005846;21704885;21722947;22054014;18626576;21486954;22863883;22990857;16603398;17314283;19897484;21606198;21622647;19656241;19820708;20010814;21113135;21811235;16051665;18079694;19064727;19494296;19609363;19675569;20932475;20959607;20970423;21184742;21538482;21896478;19815509;20161788;20837477;21790911;21803029;21903422;22081069;22099304;18212736;19373254;22517901;22605335;18952891;21513986;21703539;22118674;12486103;16874300;17363905;17363973;17568778;18266467;18429822;18583959;21217772;21963094;21988832;23000965;23131831;23453969;22547678;21139048;21309033;21890473;21906983;22607974;21131783;11485410;12244103;15218148;15371500;16547522;18037881;18931663;21153314;21212807;21777808;21862579;21862596;22176836;10733566;17626013;17728323;18029035;18620544;19285159;22525270;22848449;11262391;16126728;16311516;17693255;21097508;15670770;18625728;19303852;19422324;21512573;21709223;22341466;22505724;23007157;23028469;23032186;23032187 8517 A8MV29;C9J1R1;C9J2V2;C9JCG6;C9JH59;C9JN51;C9JZ85;E7EU78;F8W9A9;Q9Y6K9 ABBA01045263;ABBA01045264;AC244090;AF062089;AF074382;AF091453;AF261086;AF277315;AJ271718;AK000593;AK308366;AMYH01023318;AY114157;AY429546;AY429547;AY429548;BC000299;BC012114;BC046922;BC050612;BT019621;CH471172;DC410130;NG_009896;NM_001099856;NM_001099857;NM_001145255;NM_003639 AAC36330;AAD12183;AAD38081;AAF99679;AAH00299;AAH12114;AAH46922;AAH50612;AAL27012;AAM44073;AAV38427;ABM82309;ABM85486;CAB93146;EAW72677;EAW72678;EAW72679;EAW72680;EAW72681;NP_001093326;NP_001093327;NP_001138727;NP_003630;Q9Y6K9 Hs.43505 1741239;1748051;1748053;1748069;1801028;1804238;1806584;1807554;1816208;1817286;1817854;1818490;1819510;1819900;1822790;1822792;1823580;1825206;1829126;1830532;1831556;1832248;1832626;1832806;1836138;1838318;1839152;1840956;1841086;1841920;1842870;1843212;1844316;2037914;2037916;2037918;2037920;2037922;2037924;2037926;2037928;2037930;2037932;2037934;2037936;2037938;2037940;2037942;2037944;2037946;2037948;2037950;2037952;2037954;2037956;2037958;2037960;2037962;2037964;2037966;2037968;2037970;2037972;2037974;2037976;2037978;2037980;2037982;2037984;2037986;2037988;2037990;2037992;2037994;2037996;2037998;2038000;2038002;2038004;2038006;2038008;2038010;2038012;2038014;2038016;2038018;2038020;2038022;2038024;2038026;2038028;2038030;2038032;2038034;2038036;2038216;2038218;2038220;2038222;2038224;2102642;2102644;2102646;2102648;2102650;2102652;2102654;2102656;2102658;2102660;2187569;2219160 A006S22;ECD01380;ECD03042;ECD04249;ECD04749;ECD09144;ECD09693;ECD09981;ECD10306;ECD10822;ECD11020;ECD12483;ECD12484;ECD12881;ECD13704;ECD15690;ECD16402;ECD16915;ECD17262;ECD17453;ECD17544;ECD19230;ECD20333;ECD20755;ECD21671;ECD21736;ECD22162;ECD22642;ECD22814;ECD23372;G65806;G65807;G65810;GDB:179459;IKBKG_3230;REN89971;REN89972;REN89973;REN89974;REN89975;REN89976;REN89977;REN89978;REN89979;REN89980;REN89981;REN89982;REN89983;REN89984;REN89985;REN89986;REN89987;REN89988;REN89989;REN89990;REN89991;REN89992;REN89993;REN89994;REN89995;REN89996;REN89997;REN89998;REN89999;REN90000;REN90001;REN90002;REN90003;REN90004;REN90005;REN90006;REN90007;REN90008;REN90009;REN90010;REN90011;REN90012;REN90013;REN90014;REN90015;REN90016;REN90017;REN90018;REN90019;REN90020;REN90021;REN90022;REN90023;REN90024;REN90025;REN90026;REN90027;REN90028;REN90029;REN90030;REN90031;REN90032;REN90127;REN90128;REN90129;REN90130;REN90131;stSG604127;stSG604128;stSG604129;stSG604130;stSG604131;stSG604135;stSG604136;stSG604137;stSG604138;stSG604139 AMCBX1;FIP-3;FIP3;Fip3p;IKK-gamma;IP;IP1;IP2;IPD2;NEMO;ZC2HC9 I-kappa-B kinase subunit gamma;IKKAP1;IKKG;IkB kinase gamma subunit;NF-kappa-B essential modifier;NF-kappa-B essential modulator;NFkappaB essential modulator;OTTHUMP00000026026;OTTHUMP00000026027;OTTHUMP00000026028;OTTHUMP00000026029;OTTHUMP00000026030;OTTHUMP00000196183;OTTHUMP00000196186;OTTHUMP00000207079;OTTHUMP00000212188;ikB kinase subunit gamma;ikB kinase-associated protein 1;incontinentia pigmenti;inhibitor of nuclear factor kappa-B kinase subunit gamma APPROVED protein-coding ENSG00000073009 5961 02217 300248;300291;300301;300584;300636;300640;308300 REVIEWED 1318072 IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009] 1 1 q32.1 204710419 204736845 + 206643586 206670223 + 1580863;6480464;6907045 10882136;16177806;17353931;10421793;12761501;19497997;19481526;19153231;18434448;18353649;17574021;17328045;17327220;17003035;16888014;16840782;16731946;16710414;16380379;16299251;15879144;15767399;15695821;15550384;15489334;15489227;15367631;14743216;14702039;14560022;12736252;12692549;12676577;12477932;12133833;11902829;11839743;11470787;10759890;8590280;11959143;18636086;16393995;17599067;20188669;21200404;19913121;20588308;20628086;20634891;15556946;15939554;16281057;17823124;19380491;19786281;19940156;16914100;18029348;16344560;8889548;21271611;15276183;21171089;21464307;21179067;21221132;21685032;21718646;22942254;19820708;22318606;21906983;22065572;21903422;21908616;21987572;22072751;15661910;17468758;21212807;21885437;22552702;9914500;22266464;22531926;17568778;18636090;22851696;22939624;23096996;23453969;23308279;22079989;22532683;22787218;20449947;22505724;23007157;23365428;23478265;22330135 9641 Q14164 AB016590;ABBA01010190;ABBA01010191;AC244034;AF241789;AK093798;AK310737;AL354681;AL706097;AMYH01001676;AY660028;BC105923;BC105924;BC107591;BC107812;CB243308;CH471100;D63485;DA990116;DA999897;DB152295;DQ667176;FB750148;NM_001193321;NM_001193322;NM_014002 AAF45307;AAI05924;AAI05925;AAI07813;ABG25921;BAA09772;BAA85155;CAI15250;CAT02203;EAW93547;EAW93548;EAW93549;NP_001180250;NP_001180251;NP_054721;Q14164 Hs.321045 2124471;2135547;2149816 RH70483;SHGC-76223;STS-AA022666 IKK-E;IKK-i;IKKE;IKKI;KIAA0151;MGC125294;MGC125295;MGC125297 I-kappa-B kinase epsilon;IKK-epsilon;IKK-related kinase epsilon;OTTHUMP00000034540;inducible I kappa-B kinase;inducible IkappaB kinase;inhibitor of nuclear factor kappa-B kinase subunit epsilon APPROVED protein-coding ENSG00000143466 14552 05442 605048 VALIDATED 1349516 IL11RB interleukin 11 receptor, beta 3591 5968 1322164 IKZF5 IKAROS family zinc finger 5 (Pegasus) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002] 10 10 10 q26 118459665 118474783 - 124743187 124758301 - 124753197 124768311 - 1580863;6480464 16189514;14702039;12477932;10978333;12511597;18029348;22318606 64376 Q9H5V7 ABBA01062838;AC073585;AF230808;AI560579;AK023288;AK026626;AK055507;AK122899;AK226143;AMYH01003144;BC022564;BX647958;CH471066;CR749800;DA218215;DA227834;DB080324;DB224006;NM_001271840;NM_022466;NR_073475;NR_073476;NR_073477;NR_073478;NR_073479 AAG39220;ABM83326;ABM86540;BAB15512;BAG53789;CAH18660;CAH56199;EAW49292;EAW49293;EAW49294;NP_001258769;NP_071911;Q9H5V7 Hs.501289 1678643;1735984;1776849;2108681 D10S1273E;RH94240;SHGC-34259;ZNFN1A5_8083 DKFZp781B0249;FLJ22973;PEGASUS;ZNFN1A5 OTTHUMP00000020670;ikaros family zinc finger protein 5;zinc finger protein Pegasus;zinc finger protein, subfamily 1A, 5 (Pegasus);zinc finger protein, subfamily 1a, 5;zinc finger transcription factor Pegasus APPROVED protein-coding 14283 05873 606238 VALIDATED 731000 IL10RA interleukin 10 receptor, alpha The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009] 11 11 q23 117362319 117377404 + 117857106 117872198 + 1580863;2316323;2311043;6480464;5688379;6907045;7240710 12620647;19428551;21115385 8120391;11485736;15837194;8407942;19527514;19409109;19336370;19258923;19019335;19016528;19012493;18818748;18800073;18676680;18674658;18633131;18365030;18344594;18308712;17988330;17961716;17845543;17703412;17331973;17152005;17115186;17066477;16971956;16961803;16491350;15729365;15489334;15340161;15063762;12759436;12673894;12591723;12496489;12477932;12374810;12133952;12093920;12023331;11717514;11591769;11490020;11254683;10563471;10433356;10231374;9312047;8897595;8662928;8248239;7814035;7759550;7544437;7540068;21396623;19798061;19170196;19573080;19625176;19692168;19738620;19772791;19773279;19773451;19890111;20232770;20237496;20299965;20331378;20424473;20452482;20453000;20463618;20478055;20503287;20531015;20568250;20811626;20976276;19913121;20588308;20617924;20628086;20673868;20186944;22652629;21532858;21635228;21814839;21654841;22649007;21553229;22155628;22087322;22549091;23166328;23251661;23096091 3587 E9PKU2;E9PPU4;F5GYV8;F5H5Y4;Q13651 AB209626;ABBA01039716;AK291645;AK301260;AK301484;AK301492;AK313049;AK316146;AK316342;AMYH01004067;AP002962;AY195619;BC028082;BM193545;CA307153;CH471065;EF444988;JN591377;NG_016275;NM_001558;NR_026691;U00672 AAA17896;AAH28082;AAN86349;ABM81957;ABM84646;ACA06005;AEX60806;BAD92863;BAF84334;BAG62826;BAG62998;BAG63003;BAH14517;BAH14713;EAW67343;NP_001549;Q13651 Hs.504035 1779163;2154028;2161511 G15965;RH17971;WI-7357 CD210;CD210a;CDW210A;HIL-10R;IL-10R1;IL10R IL-10 receptor subunit alpha;IL-10R subunit 1;IL-10R subunit alpha;IL-10RA;OTTHUMP00000233150;interleukin-10 receptor alpha chain;interleukin-10 receptor subunit 1;interleukin-10 receptor subunit alpha APPROVED protein-coding ENSG00000110324 5964 00911 146933;613148 REVIEWED 735591 IL10 interleukin 10 The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011] 1 1 q31-q32 205007571 205012462 - 206940948 206945839 - 1579929;1580478;1580479;1580480;1580481;1580494;1580863;1598487;1358665;1598465;1598466;1598469;1598471;1598472;1598477;1598480;1598481;1598483;1598484;1598486;1598621;1598622;1598623;1598624;1598625;1598626;1598627;1598628;1598629;1598630;1598632;2307272;2308946;2308951;2308943;2308948;2308949;2311048;2311054;2311056;2311057;2308950;2311060;2311058;2311052;2311053;2306925;2311059;2308942;2308945;2308947;2307061;2311047;2317660;2317654;2317655;2317658;2317659;2317653;4142510;4140426;4140460;4143221;4140458;4140459;4140451;4140425;4142511;4142530;4140398;4140400;4143231;4140421;4140467;4140470;4140417;4140396;4140420;4140455;4140471;6480464;2311043;5131471;5508171;5688379;6484113;1626677;6907045;7240710;5131623 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3586 P22301;Q6FGW4 ABBA01010192;AF043333;AF295024;AF418271;AL513315;AMYH01001678;AY029171;BC022315;BC104252;BC104253;CH471100;CR541993;CR542028;DQ217938;GQ405199;M57627;NG_012088;NM_000572;U16720;X78437 AAA63207;AAA80104;AAC03534;AAI04253;AAI04254;AAK19173;AAK38162;AAL06594;ABB01008;ACV30066;CAA55201;CAG46790;CAG46825;EAW93524;NP_000563;P22301 Hs.193717 1693014;1745381;1775746;1791504;1793032;2113670;2179015;5015619;5037552 AL009920;AL034234;D11S3114;D8S2279;GDB:603928;IL10;PMC112029P1;PMC18942P1;SHGC-76259 CSIF;GVHDS;IL-10;IL10A;MGC126450;MGC126451;TGIF OTTHUMP00000034567;T-cell growth inhibitory factor;cytokine synthesis inhibitory factor;interleukin-10 1643243 BW132_H APPROVED protein-coding ENSG00000136634 5962 00495 124092;180300;609423;614395 REVIEWED 1351047 IL12A interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008] 3 3 q25.33 161189323 161196500 + 159706623 159713806 + 1580863;4438438;4373570;6480464;6484113;6907045 17056578 8992506;12911539;1674604;1673147;9342359;10899108;16942485;7903063;1357073;9789052;2204066;12372421;18419254;18413324;18385764;18311140;18300344;18190588;18159163;18092318;18050195;17947455;17922692;17881511;17846855;17703412;17671745;17653830;17640324;17627763;17564777;17553352;17509455;17461482;17444864;17361014;17304101;17257312;17236132;17225924;17152005;17062130;17007011;17002904;16961803;16938461;16885196;16803996;16754651;16702372;16573560;16544245;16230423;15963597;15937086;15863393;15810889;15741223;15643599;15489234;15448160;15361128;15356557;15170937;15087447;15051764;14962816;14675394;14660053;14629328;14566095;12944981;7605994;8557999;14718574;19594368;19573080;19566870;19543959;19508433;19505916;19470040;19458352;19454678;19408823;19376105;19339796;19332120;19299334;19297619;19258923;19230467;19200845;19148899;19144161;19126646;19118071;19117745;19074885;19073967;19031096;19012493;18976327;18972297;18805825;18773331;18717726;18676680;18672993;18671862;18633131;18632425;18628242;18606709;18588867;18566447;18554158;12672403;12633940;12576336;12558814;12542496;12477932;12472178;12444143;12358856;12270766;12242445;12213961;12117904;11940489;11751963;10320373;10089131;9671213;9616161;9603732;9516412;9334723;8760829;8700208;7695626;1358798;1350290;10352291;9712080;9158092;15331709;14764743;11087201;9225992;8648753;12719551;7867080;9108403;17077296;14597672;12370346;15956545;15817944;15780175;15142381;934235;7527811;22734699;18260379;20551083;21285006;20372811;16482511;19088061;16456693;16548883;16862120;19170196;19525953;19625176;19646340;19692168;19693089;19710469;19773279;19789190;19797506;19798410;19879194;19885559;19950173;19956842;20027291;20054003;20060272;20061784;20082482;20190752;20213229;20237496;20331378;20350312;20418110;20452482;20453000;20503287;20521253;20544370;7516408;20634089;20555355;20568250;20716621;20960273;21044109;21086908;11114383;20231901;19913121;20485444;20581146;20603050;20628086;20639880;20647273;20673868;20818961;21145044;20881642;21399635;21397857;19253530;22940148;21402701;20714168;21387004;21518761;21177981;21606320;21513752;21576509;21518507;22005588;21878338;22038227;22133036;23053983;23065210;22011063;22040814;22656398;21833088;22691562;22614250;22819329;23154182;23285065;23291587;23377640;23388728;23297419;17431094;17586317;18417583;19013323;19234184;19275586;19516896;20012528;20446002;21689404;22655069;22581790 3592 E7ENE1;E9PGR3;O60595;P29459 ABBA01058801;AC010370;AF050083;AF101062;AF180562;AF404773;AMYH01013613;AW472810;BC035571;BC104982;BC104984;BG702253;CH471052;CS498405;HH821934;JA104599;M65271;M65291;NG_033022;NM_000882 AAA35694;AAA59937;AAC05211;AAC05212;AAD16432;AAD56385;AAI04983;AAI04985;AAK84425;CAM82732;CBX32667;CCA63969;EAW78656;EAW78657;EAW78658;NP_000873;P29459 Hs.673 1743091;1791350;2129046;2180714;2217480 GDB:252062;IL12A_3062;PMC105864P1;RH17729;SHGC-12751 CLMF;IL-12A;NFSK;NKSF1;P35 CLMF p35;IL-12 subunit p35;IL-12, subunit p35;IL35 subunit;NF cell stimulatory factor chain 1;NK cell stimulatory factor chain 1;OTTHUMP00000213703;OTTHUMP00000213704;OTTHUMP00000213705;cytotoxic lymphocyte maturation factor 1, p35;cytotoxic lymphocyte maturation factor 35 kDa subunit;interleukin 12, p35;interleukin-12 alpha chain;interleukin-12 subunit alpha;natural killer cell stimulatory factor 1, 35 kD subunit APPROVED protein-coding ENSG00000168811 5969 01193 161560 REVIEWED 736550 IL11 interleukin 11 The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 19 19 q13.3-q13.4 60567569 60573626 - 55875750 55881831 - 1580863;6480464;6907045 20640990;21155043;2145578;1828438;7867561;7508917;19258923;19121317;18987331;18941632;18490653;18433382;18204920;17713553;17703412;17702845;17332920;17325843;17295091;17000646;16964382;16759877;16709613;16614887;16189514;16149067;15784719;15614128;15613426;15543003;15504551;15489334;15389536;15381181;15377473;15307108;15121272;15025215;15004839;14734714;12819039;12760902;12740032;12629504;12584029;12569176;12486609;12477932;12197884;12032273;12005542;11940481;10948192;10725745;10504396;10026196;8940087;8913282;8383296;7670098;7499280;1386338;1292471;22205539;21442077;21688123;22289923;20553623;21485496;19213836;19223152;19251839;19548631;19647472;19716605;19801577;19913506;20008143;20360315;20503287;21443102;21042281;21138838;22644863;20712807;21741611;23027619;22568077;22457856;21986128;21995459;23307318;23549086;22168497;22253262;21840908;22393310;22523320;22433466;22595646;22614117;23311882;22180059;22707562;23340433;22727646;23226926 3589 A8K3F7;K7ESD5;P20809 ABBA01068101;ABBA01068102;AC020922;AK290572;AK298973;AK315294;AMYH01009993;AMYH01009994;AY207429;BC012506;BF055151;CH471135;M57765;M81890;NM_000641;NM_001267718;X58377 AAA59132;AAH12506;AAO13493;BAF83261;BAG37700;BAG61067;CAA41266;EAW72371;NP_000632;NP_001254647;P20809 Hs.467304 1650445;2111940;2127864;5024761;5037552;5109283 D19S1142;D19S1168;D1S1431;D8S2279;RH36905;STS-W47396 AGIF;IL-11 adipogenesis inhibitory factor;interleukin-11;oprelvekin APPROVED protein-coding ENSG00000095752 5966 00980 147681 REVIEWED 1345772 IL10RB interleukin 10 receptor, beta The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 q22.11 33560542 33591390 + 34638665 34669539 + 1580863;5490305;5688379;6480464;6907045 21240009;21115385 10954742;12483210;8314576;9463407;9312047;19527514;19409109;19295315;19258923;19019335;18818748;18715339;18675824;18674658;11485736;11450494;11416224;10875937;10830953;10077530;9047351;7563119;18588853;17703412;17567994;17152005;17062437;16344560;16109775;15985167;15489334;15340161;15178681;12477932;12469119;19573080;19577285;19714778;19773279;19773451;19890111;20087947;20237496;20424473;20503287;20140262;20568250;20800603;20811626;20976276;19913121;20628086;21532858;21139048;21814839;22549091;23128233;23096091 3588 F8WDX2;H7C0Z5;Q08334 ABBA01057336;ABBA01057337;AI025402;AK124057;AK299961;AK313348;AMYH01012209;AP000295;AU133530;AY323826;BC001903;BT009777;CH471079;JN591378;NG_012089;NM_000628;U08988;Z17227 AAA86872;AAH01903;AAP72016;AAP88779;ABM83478;ABM86689;AEX60807;BAC85761;BAG61787;CAA78933;EAX09840;EAX09841;NP_000619;Q08334 Hs.654593 1683533;1730906;1734346;1745813;1757227;1759865;1771902;1810536;1813598;1814422;1815954;1816206;1819840;1822638;1823408;1823410;1824712;1827660;1828974;1829296;1829686;1829688;1830614;1830740;1834158;1835358;1836284;1836696;1838200;1842110;1842388;1842642;1843970;1845202;2027090;2027092;2027094;2027096;2027098;2027100;2027102;2027104;2027106;2027108;2027110;2027112;2027114;2027116;2027118;2027120;2027122;2027124;2027126;2027128;2027130;2027132;2027134;2027136;2027138;2027140;2027142;2027144;2027146;2027148;2027150;2027152;2027154;2027156;2027158;2027160;2027162;2027164;2027166;2027168;2027170;2027172;2027174;2027176;2027178;2027180;2027182;2027184;2027186;2027188;2027190;2027192;2027194;2027196;2027198;2027200;2027202;2027204;2027206;2027208;2027210;2027212;2027214;2027216;2027218;2027220;2027222;2027224;2027226;2027228;2027230;2027232;2027234;2027236;2027238;2027240;2027242;2027244;2027246;2027248;2027250;2027252;2027254;2027256;2027258;2027260;2027262;2027264;2027266;2027268;2027270;2027272;2027274;2027276;2027278;2027280;2027282;2027284;2027286;2027288;2027290;2027292;2027294;2027296;2027298;2027300;2027302;2027304;2027306;2027308;2027310;2027312;2027314;2027316;2027318;2027320;2027322;2027324;2027326;2027328;2027330;2027332;2027334;2027336;2027338;2027340;2027342;2027344;2027346;2027348;2027350;2027352;2027354;2027356;2027358;2027360;2027362;2027364;2027366;2027368;2101000;2101002;2101004;2101006;2101008;2101010;2101012;2101014;2101016;2101018;2101020;2101022;2101024;2101026;2101028;2101030;2101032;2101034;2101036;2101038;2101040;2123320;2133390;2141688;2217478;5020948;5109281 D1S1425;D21S1691;D21S58;ECD06261;ECD07822;ECD08240;ECD09017;ECD09143;ECD10990;ECD12407;ECD12795;ECD12796;ECD13454;ECD14950;ECD15614;ECD15777;ECD15975;ECD15976;ECD16443;ECD16506;ECD18227;ECD18834;ECD19303;ECD19512;ECD20272;ECD22258;ECD22397;ECD22528;ECD23197;ECD23818;G15858;G35510;GDB:642263;IL10RB_3282;REN84547;REN84548;REN84549;REN84550;REN84551;REN84552;REN84553;REN84554;REN84555;REN84556;REN84557;REN84558;REN84559;REN84560;REN84561;REN84562;REN84563;REN84564;REN84565;REN84566;REN84567;REN84568;REN84569;REN84570;REN84571;REN84572;REN84573;REN84574;REN84575;REN84576;REN84577;REN84578;REN84579;REN84580;REN84581;REN84582;REN84583;REN84584;REN84585;REN84586;REN84587;REN84588;REN84589;REN84590;REN84591;REN84592;REN84593;REN84594;REN84595;REN84596;REN84597;REN84598;REN84599;REN84600;REN84601;REN84602;REN84603;REN84604;REN84605;REN84606;REN84607;REN84608;REN84609;REN84610;REN84611;REN84612;REN84613;REN84614;REN84615;REN84616;REN84617;REN84618;REN84619;REN84620;REN84621;REN84622;REN84623;REN84624;REN84625;REN84626;REN84627;REN84628;REN84629;REN84630;REN84631;REN84632;REN84633;REN84634;REN84635;REN84636;REN84637;REN84638;REN84639;REN84640;REN84641;REN84642;REN84643;REN84644;REN84645;REN84646;REN84647;REN84648;REN84649;REN84650;REN84651;REN84652;REN84653;REN84654;REN84655;REN84656;REN84657;REN84658;REN84659;REN84660;REN84661;REN84662;REN84663;REN84664;REN84665;REN84666;REN84667;REN84668;REN84669;REN84670;REN84671;REN84672;REN84673;REN84674;REN84675;REN84676;REN84677;REN84678;REN84679;REN84680;REN84681;REN84682;REN84683;REN84684;REN84685;REN84686;RH79178;RH98776;SHGC-144647;SHGC-170105;SHGC-87551;STS-U08988;stSG607040;stSG607042;stSG607043;stSG607044;stSG607046;stSG607047;stSG607048;stSG607049;stSG607050;stSG607051;stSG607053;stSG607054;stSG607055;stSG607056;stSG607058;stSG607059;stSG607060;stSG607061;stSG607062;stSG607063;stSG607064 CDW210B;CRF2-4;CRFB4;D21S58;D21S66;IL-10R2 IL-10 receptor subunit beta;IL-10R subunit 2;IL-10R subunit beta;IL-10RB;OTTHUMP00000067678;OTTHUMP00000221101;cytokine receptor class-II CRF2-4;cytokine receptor class-II member 4;cytokine receptor family 2 member 4;cytokine receptor family II, member 4;interleukin-10 receptor subunit 2;interleukin-10 receptor subunit beta APPROVED protein-coding ENSG00000243646 5965 00473 123889 REVIEWED 732444 IL11RA interleukin 11 receptor, alpha Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 9 9 p13 34643932 34651884 + 34652182 34661899 + 6480464;6907045 7670098;18941632;17332920;16964382;16614887;16344560;16291580;15512823;15489334;14744752;14702039;14701802;12569176;12477932;12200462;11498264;11315919;11241561;11181995;11141475;10504396;10026196;9632650;8786120;8808281;18987331;19423540;20406964;20438785;20553623;19913121;20628086;21982075;22075555;22433466 3590 G3V2A5;G3V2G0;G3V2J5;G3V3V2;G3V428;G3V571;H0YCS8;Q14626;Q5VZ79 ABBA01065007;AI377039;AK075530;AK094689;AK292073;AL162231;AMYH01019340;AY532110;BC003110;BT009864;CH471071;DA917660;DC424068;NG_028966;NM_001142784;NR_052010;U32323;U32324;Z38102;Z46595;Z46596 AAB36491;AAB36492;AAH03110;AAP88866;AAS00093;ABM83268;ABM86474;BAF84762;BAG52913;CAA86224;CAA86570;EAW58422;EAW58423;EAW58424;EAW58425;EAW58426;NP_001136256;Q14626 Hs.591088 1666126;2151283;2155805;2191755 D9S1978;MARC_7064-7065:996687499:1;SHGC-35540;STS-U32324 CRSDA;MGC2146 IL-11 receptor subunit alpha;IL-11R subunit alpha;IL-11R-alpha;IL-11RA;OTTHUMP00000021300;OTTHUMP00000021301;OTTHUMP00000244525;OTTHUMP00000244527;OTTHUMP00000244532;interleukin 11 receptor, alpha chain 1;interleukin-11 receptor alpha chain;interleukin-11 receptor subunit alpha APPROVED protein-coding ENSG00000137070 5967 02965 600939;614188 REVIEWED 1349194 IL12RB1 interleukin 12 receptor, beta 1 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The lack of expression of this gene was found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 p13.1 18031371 18058697 - 18170371 18197697 - 1580863;6480464;6484113;6907045;7240710 20345976;8943050;7911493;19258923;19249008;19247692;19240061;19074885;18940359;18591412;18493823;18478121;17703412;17403771;17392024;17284226;17236132;17222831;17152005;16159888;16088278;16084898;15993716;15941730;15243935;15178580;15063762;15004750;12743658;12719941;12671732;12596048;12594833;12496448;12477932;12023369;12020266;11857344;11424023;11114383;10415122;9637763;9603733;9469420;9284929;8958915;8125298;7843232;7527811;9038232;12421946;14635048;15114670;19460324;19573080;19773279;19773451;19817957;19839503;20060272;20237496;20350312;20399512;20424473;20452482;20453000;20503287;20525402;20568250;20716621;20811626;20855390;19913121;20628086;20639880;20673868;20171917;22740240;22504412;21689850;23024274;21988832;23217179;23541324 3594 M0QX06;M0R382;P42701 ABBA01051245;ABBA01051246;AC020904;AJ297688;AJ297689;AJ297690;AJ297691;AJ297692;AJ297693;AJ297694;AJ297695;AJ297696;AJ297697;AJ297698;AJ297699;AJ297700;AJ297701;AK225919;AK290423;AMYH01009584;AY771996;BC029121;BC137404;BC137406;BX647221;CH471106;NG_007366;NM_005535;NM_153701;U03187 AAA21340;AAH29121;AAI37405;AAI37407;AAV28734;ACE86947;ACE86994;ACE87635;ACE87683;ADZ16106;BAF83112;CAC10446;EAW84653;EAW84654;EAW84655;EAW84656;NP_005526;NP_714912;P42701 Hs.567294 1787686;2151523;5015619;5015861;5109281;7185938 D10S16;D11S3114;D1S1425;RH66781;SHGC-156161 CD212;IL-12R-BETA1;IL12RB;MGC34454 IL-12 receptor beta component;IL-12 receptor subunit beta-1;IL-12R subunit beta-1;IL-12R-beta-1;IL-12RB1;interleukin-12 receptor beta-1 chain;interleukin-12 receptor subunit beta-1 APPROVED protein-coding ENSG00000096996 5971 03363 209950;601604 REVIEWED 1353629 IL12B interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008] 5 5 q31.1-q33.1 158674369 158690059 - 158741791 158757481 - 1600042;1600043;1580863;4145421;4145430;4831840;4888529;4889581;4888507;4145426;4145423;4145428;4145438;6480464;6484113;6907045;7240710 9854038;15322986;10848872;12084045;19233473;20176803;18598692;15776385;16389596;19279357;12241719;16210052 19174780;10207176;9108403;20372811;1674604;10899108;9789052;1673147;16942485;7903063;8992506;19573080;19554267;19525409;19505916;19495883;19487916;19435421;19422935;19419334;19342681;19328947;19274925;19264456;19262574;19258923;19249008;19247692;19210338;19185507;17388919;17327408;17236132;17172248;17152005;17148969;16966828;16948912;16789008;16772281;16750991;16712658;16681592;16637265;16600026;16574246;16514412;16216674;16100774;16039994;16005098;15993716;15988104;15941730;15937086;15871664;15869883;15858599;15837792;15644581;15620465;15603869;15523691;15489334;15483662;15482860;15464247;15448160;15356557;15295696;15285014;15102082;15057902;15007350;15004750;14976188;14962816;14746806;14679201;14675396;14551880;12914676;12876411;12857749;12672403;12542496;12477932;12472178;12424627;12424624;12413772;12297341;12270766;12207325;12202149;12117918;12117904;12100467;12086971;12065887;11978670;11972887;11940489;11820460;11813133;11753820;11751963;11197695;11196715;11114383;11110796;10890924;10419056;10320373;19169255;19169254;19134014;19118071;19035472;19012493;18834321;18827961;18821674;18800148;18717726;18703108;18680750;18676680;18633131;18632587;18631256;18628242;18619507;18606709;18588591;18587394;18563338;18557702;18522869;18512797;18497679;18485489;18449199;18438406;18422730;18413324;18389618;18383521;18369459;18367309;18341612;18319400;18300039;18240960;18219280;18192685;18190588;18163209;18092318;18086266;18082575;18075513;18048021;18034172;17994425;17993580;17945537;17932439;17901940;17889143;17881511;17846855;17703412;17653830;17644387;17587057;17579859;17567674;17564777;17554261;17513774;17509455;17504509;17477815;17445208;17403771;17392024;9700192;9671213;9603733;9603732;9516412;8799158;8760829;8551218;7843232;7836910;7698768;7695626;7565674;7527811;7527439;2204066;2070420;1358798;10352291;9712080;9158092;15331709;14764743;11087201;9225992;8648753;12719551;7867080;21196650;20483637;20551083;21321105;22383962;22384203;21310195;12421946;15114670;15265908;16482511;16751425;17888176;19088061;19170196;19258635;19516896;19625176;19646340;19683555;19692168;19705136;19733878;19773279;19773451;19782084;19819209;19832040;19838195;19860911;19861958;19956104;20003322;20014019;20016509;20027321;20054003;20060272;20105444;20145925;20217072;20237496;20331378;20350312;20371868;20387064;20395963;20399512;20416077;20452482;20453000;20503287;20521253;20525402;20953188;20875477;19760754;20568250;20711808;20716621;20802378;20811626;20953186;21072187;20953190;20236616;20349123;20621951;17207965;20061784;20653817;20570966;12023369;18675459;21055733;19913121;20485444;20530519;20544370;20628086;20653995;20658240;20673868;21145044;20875078;21208785;20705102;21397857;21297633;23099807;22739501;23137633;22740240;23071313;23103228;21470215;22940148;23028907;21443923;21351215;20714168;21198744;21339808;22621617;22863216;21637332;21753150;21513752;21819616;21972680;21623733;21567173;22045842;21278068;21641076;21878338;22479607;22005588;23154183;23240095;23285955;23403235;23441821;21747388;23053983;23065198;23065210;23093722;22070668;21796650;22011063;21733366;21743469;21833088;22144535;22190364;22296201;23297419;22702905;22503230;22656398;21102463;22614250;22819329;23429356;22327783;22194214;22581790;12370346;14597672;17077296;17431094;19013323;19234184;20012528;21689404;22655069;23006423;23128233 3593 P29460;Q8N0X8 ABBA01044239;AC011418;AF180563;AF512686;AMYH01015756;AY008847;AY046592;AY046593;AY064126;BC067498;BC067499;BC067500;BC067501;BC067502;BC074723;CH471062;EF173865;JA104591;M65272;M65290;NG_009618;NM_002187;U89323 AAA35695;AAA59938;AAD56386;AAG32620;AAH67498;AAH67499;AAH67500;AAH67501;AAH67502;AAH74723;AAL05890;AAL05891;AAM34792;ABM53138;ADQ32054;CCA63965;EAW61576;NP_002178;P29460 Hs.674 1298302;1794576;1796074;2116144;2157747;2170805 D5S1480;G10637;IL12B_146;PMC321570P1;RH17728;SGC35786 CLMF;CLMF2;IL-12B;NKSF;NKSF2 CLMF p40;IL-12 subunit p40;IL12, subunit p40;NK cell stimulatory factor chain 2;OTTHUMP00000160820;cytotoxic lymphocyte maturation factor 40 kDa subunit;interleukin 12, p40;interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2;interleukin-12 beta chain;interleukin-12 subunit beta;natural killer cell stimulatory factor, 40 kD subunit APPROVED protein-coding ENSG00000113302 5970 01194 161561;209950;600807 REVIEWED 1349175 IL15RB interleukin 15 receptor, beta 3602 5979 69008 IL13 interleukin 13 This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008] 5 5 q31 132021764 132024700 + 131993865 131996801 + 1580863;2301685;2301686;2290344;2317669;2317670;2290347;4146242;4765128;4145600;4145596;4763761;4145453;4145474;4145777;4206706;4220633;4145506;4145512;4888530;4889497;4145639;4145664;4145714;4145737;4145775;4146241;4312589;4321828;4145627;4145765;4888529;4145665;4145776;4145508;4159171;4145601;4145641;4145647;4145650;4145454;2307110;1581860;4145774;4145779;4145649;4145652;4761594;4145526;4145668;4145500;4759835;4145466;4145534;2314537;4145528;4145637;4145496;4145767;4782826;4763153;4145593;4145654;4892639;5684368;5684365;5684366;5684375;5684363;5684370;6480464;5684362;5684372;5684364;5684367;5684369;5684371;6907045;7240710;5128548;5131286 18354382;12604708;14984938;18758789;12808442;17429054;17182591;11588017;19799786;19995275;11678850;20819635;19752036;18328894;16120094;16024972;16544260;15461830;20003352;17665443;18258919;12091879;15820084;15635619;19575932;17303794;15463872;15315330;20416219;20176803;14633438;18341619;16393274;17088137;19796199;18250447;17404281;9916735;20696593;18222984;16698589;19695190;18312531;10608794;11067861;12669034;20716936;15308043;16387607;14582911;20100461;20484924;19154443;20543112;19564030;17392164;20358028;8520776;11758895;20198887;10679115;17006604;22031307;21573182;18250480;20945403;21958311;15564778;21985368;22038918;21913997;7523520;16832637;9034992;20861649;20811626 21235536;22154382;10725748;18243101;8096327;9177784;19527514;19515749;19505916;19479237;19420105;19417211;19333920;19326508;19264973;19263529;19262574;19258923;19254294;19251840;19247692;19225544;19222422;19220774;19192232;19190772;19178408;19169254;19131662;19131452;19122650;19116009;19109239;19074885;19019335;19011907;19005922;18989750;18974840;18949100;18941246;18931892;18931077;18927306;18849614;18818748;18815020;18712166;18699941;18691306;18688040;18676870;18676680;18674658;18633131;18625055;18551035;18545091;18506597;18497474;18441098;18441092;18418228;18417506;18410779;18410415;18403443;18395486;18385759;18348727;18296848;18296657;18273035;18263811;18251702;18243827;18204280;18186920;18073124;18056382;18037162;18028994;18006935;17911623;17883727;17868461;17717322;17703412;17644317;17623648;17615386;17603012;17597813;17563406;17561245;17560640;17548690;17543424;17517104;17451413;17418380;17388919;17355643;17347445;17346294;17313976;17303923;17291854;17287067;17284225;17264150;17251453;17235327;17209513;17201240;17183946;17142763;17097743;17091279;17090525;17082655;17016624;17001290;16987060;16961803;16951338;16918506;16914241;16867043;16849505;16751012;16750991;16702372;16681592;16522370;16493441;16461126;16428771;16403098;16388492;16387595;16327802;16315031;16303333;16272823;16236836;16210662;16200868;16195814;16166103;16133987;16101942;16046318;16034134;16024651;16001979;15969687;15951665;15919378;15904474;15879126;15870068;15869882;15845862;15731584;15728267;15713213;15711639;15699166;15687724;15661077;15660293;15642470;15634905;15596681;15528258;15488706;15483090;15474066;15388001;15361241;15356573;15356556;15229217;15191916;15187156;15163899;15163701;15155645;15155567;15146247;15014952;15007355;15007352;15005726;15004182;14983029;14764428;14756548;14734771;14669230;14634100;14564352;14561191;14551608;14512310;14510917;12944981;12935900;12928861;12884288;12794003;12748907;12748293;12704784;12682264;12654630;12594065;12548511;12525574;12477932;12441140;12424628;12413765;12396617;12377947;12370400;12370393;12223527;12207328;12189139;12165514;12163193;12152987;12145428;12097410;12089714;12067309;12063528;11980568;11940068;11830476;11825773;11786536;11709756;12920029;12897746;11396683;11278629;11197307;11149986;11003391;22170601;22222605;21478113;10753117;10699178;10651852;10227975;9856950;9856949;9139718;8605348;8099936;8097324;7721105;7530359;7521694;1408833;10623799;12089333;9226003;16375755;21076368;19913121;20406594;20530519;20536507;20572918;20603037;20628086;20644561;19739097;22204768;22574126;20368097;16275384;19141347;19170196;19231232;19332998;19470259;19487697;19507063;19536153;19554022;19555572;19559392;19573080;19578876;19586918;19602238;19625176;19635933;19654941;19659863;19674346;19692168;19706316;19706623;19726720;19729601;19759281;19772762;19773279;19773451;19789190;19840389;19862939;19910508;19933216;19948975;19968504;20051514;20085599;20093796;20107485;20159242;20177070;20207250;20208004;20219689;20224668;20236697;20237496;20299965;20306654;20332709;20394509;20395963;20403202;20403914;20418110;20418295;20444155;20453000;20485362;20503287;20860503;21275604;20194818;20140262;20568250;20703737;20800603;20802378;20942272;20975284;21061265;21071541;20861864;20589076;20652946;20081054;21198753;21097505;21191414;21236478;21191416;21289305;20539013;21067601;23184931;22287592;23045480;21239604;21325281;20714168;21489615;22226971;21425907;21426411;21576506;21613309;22039304;22053598;21616524;22023794;21430433;22013915;22370092;22521249;22123380;22045834;22087298;22092872;22166239;22229804;22376040;22039015;21677024;21762457;21920770;22407982;22471460;22573806;22686311;22075330;22236719;22286212;22750299;22741617;22846750;23300643;23521898;23108822;23171465;23223131;23070918;22981205;23042114;23128233;22317767;22432974;22661199;22325047;22506826;22534877;22441356;23249391;23815671;22698804;22952702;23222300;23246181;8609418 3596 P35225;Q4VB53 ABBA01068803;AC004039;AF043334;AF172149;AF172150;AF193838;AF193839;AF193840;AF377331;AF416600;AMYH01015616;AY008331;AY008332;BC096138;BC096139;BC096140;BC096141;CH471062;HI573912;L06801;L13029;L42079;L42080;NG_012090;NM_002188;U10307;U31120;X69079 AAA36107;AAA83738;AAB01681;AAC03535;AAH96138;AAH96139;AAH96140;AAH96141;AAK53823;CAA48823;CAA48824;CBX47445;EAW62324;EAW62325;EAW62326;EAW62327;NP_002179;P35225 Hs.845 1298161;1339467;1663743;1794748;1796076;1798964;1808592;1817460;1817592;1817850;1819560;2000478;2000480;2000482;2000484;2000486;2000488;2000490;2000492;2000494;2000496;2000498;2000500;2000502;2000504;2000506;2000508;2000510;2000512;2000514;2000516;2000518;2000520;2000522;2096304;2096306;2096308;2096310 D4S1651;D4S2394;D5S2410;ECD00324;ECD05278;ECD09780;ECD09846;ECD09979;ECD10847;IL13_148;PMC356970P3;REN71151;REN71152;REN71153;REN71154;REN71155;REN71156;REN71157;REN71158;REN71159;REN71160;REN71161;REN71162;REN71163;REN71164;REN71165;REN71166;REN71167;REN71168;REN71169;REN71170;REN71171;REN71172;REN71173;stSG601426;stSG601427;stSG601428;stSG601429 ALRH;BHR1;IL-13;MGC116786;MGC116788;MGC116789;P600 Bronchial hyperresponsiveness-1 (bronchial asthma);OTTHUMP00000066048;allergic rhinitis;interleukin-13 APPROVED protein-coding ENSG00000169194 5973 00981 147683;600807;607154 REVIEWED 1346577 IL12RB2 interleukin 12 receptor, beta 2 The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012] 1 1 p31.3-p31.2 67545635 67635171 + 67773047 67862583 + 1580863;6480464;6484113;6907045 8943050;19258923;18927311;18771340;18715339;18474725;18353079;17703412;17622942;17236132;17152005;15976343;15901746;15489334;15140029;15004750;14559241;12804004;12768436;12743658;12719941;12477932;11940489;11441083;11438525;11306945;10663559;10600539;10415122;10198225;9890938;9605872;9498755;9284929;9120388;8401589;7911493;9038232;17602269;19458352;19573080;19604093;19720917;19773279;20060272;20237496;20350312;20424473;20452482;20503287;20525402;20568250;20716621;20639880;11114383;19913121;20622878;20622879;20628086;20673868;21399635;23009887;21285166;16344560;22076442;22412388;22509293;23152861;22378604;23128233 3595 B4DGA4;H0Y5V0;Q99665 ABBA01074518;ABBA01074519;AF349574;AK294494;AK300020;AK310837;AK316525;AL358512;AL389925;AMYH01000691;AY640177;BC104772;BC104774;BC143248;BC143249;BC143250;BC143252;CH471059;DA223630;DB126833;NG_032977;NM_001258214;NM_001258215;NM_001258216;NM_001559;NR_047583;NR_047584;U64198 AAB36675;AAI04773;AAI04775;AAI43250;AAT45456;BAG57715;BAG61833;BAH14896;EAX06499;EAX06500;NP_001245143;NP_001245144;NP_001245145;NP_001550;Q99665 Hs.479347 1651701;1766239;1781628 SHGC-149599;SHGC-154067;SHGC-74960 RP11-102M16.1 IL-12 receptor beta 2;IL-12 receptor subunit beta-2;IL-12R subunit beta-2;IL-12R-beta-2;IL-12RB2;OTTHUMP00000010662;interleukin-12 receptor beta-2 chain;interleukin-12 receptor subunit beta-2 APPROVED protein-coding ENSG00000081985 5972 03383 601642 REVIEWED 1347847 IL13RA2 interleukin 13 receptor, alpha 2 The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008] X X q13.1-q28 114144794 114158463 - 114238538 114252207 - 1580863;4892612;4146242;2298568;4892649;4159171;4892646;4890021;4145478;6480464;6484113;6907045 20522789;17182591;18362439;17885690;17088137;20383033;15161635;18802068 18172271;9725226;9083087;19491224;19258923;19149920;19010904;18694590;18677476;18564628;18559603;18430795;18307523;18028464;18024961;17917751;17804706;17703412;17560640;16981293;16902988;16751396;16327802;15870068;15772651;15489334;12816724;12485861;12477932;12445201;12231526;11786536;11352909;11003391;9177784;9130652;8663118;21858811;22505647;20673868;20014020;19654941;19887609;20007572;20068108;20237496;20452482;20503287;21071541;20729386;20543112;20805641;20971924;21477288;21622864;21596889;22045834;23421960;21139048;21913997;22407982 3598 Q14627 ABBA01053631;ABBA01053632;ABBA01053633;AK291957;AK308523;AK309444;AL121878;AMYH01022851;AY656702;BC020739;BC033705;CH471120;GQ494004;NG_012514;NM_000640;U70981;X95302;Y08768 AAB17170;AAH20739;AAH33705;AAT49099;ABM85056;ABW03720;ACX47590;BAF84646;CAA64617;CAA70021;EAX02621;EAX02622;NP_000631;Q14627 Hs.336046 1779109;2119321 DXS6794;DXS7347 CD213A2;CT19;IL-13R;IL13BP IL-13 receptor subunit alpha-2;IL-13R subunit alpha-2;IL-13R-alpha-2;IL-13RA2;OTTHUMP00000023871;cancer/testis antigen 19;interleukin 13 binding protein;interleukin 13 receptor alpha 2 chain;interleukin-13 receptor subunit alpha-2;interleukin-13-binding protein APPROVED protein-coding ENSG00000123496 5975 02132 300130 REVIEWED 1347132 IL13RA1 interleukin 13 receptor, alpha 1 The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008] X X q24 117745587 117812524 + 117861559 117928496 + 1580863;4892647;4892654;4146242;4892655;4892611;4145601;4892610;4892650;4892639;4892646;6480464;6484113;6907045 18480254;11714828;17182591;10686479;20671265;19796199;20808962;17392323;17006604;20383033 12935900;18243101;9013879;9083087;19258923;18029348;17703412;16918506;15870068;15489334;14527737;12594065;12522691;12477932;12354755;12223527;11939409;11278629;11058569;11003391;10409622;8910586;7569905;19913121;20628086;19586918;19654941;20237496;20503287;21071541;21097505;21236478;21425907;22376040;21139048;21890473;21913997;22098734;21294892;19322201;12207328;21988832;22441356;23000965;23169588 3597 E7EWK2;P78552;Q9UDY5 AB031393;AB209849;ABBA01036754;ABBA01036755;ABBA01036756;ABBA01036757;ABBA01036758;ABBA01036759;ABBA01036760;ABBA01036761;ABBA01036762;AK123515;AK296958;AK313467;AL391280;AMYH01022877;AMYH01022878;BC009960;BC015768;CH471161;NG_012841;NM_001560;U81379;U81380;Y09328;Y10659 AAD00510;AAD00511;AAH09960;AAH15768;ABM84380;ABM87295;BAC85635;BAD93086;BAG36253;BAG59502;CAA70508;CAA71669;EAW89893;EAW89894;NP_001551;P78552 Hs.496646 1689304;1698794;1740111;1797732;2154122;2161980;2172875;2172877;2183663;5017433;5019070 A005A40;DXS7580;G20227;G44334;IL13RA1_2422;RH102960;RH17875;RH47729;RH93401;SHGC-34461;STS-T76997 CD213A1;IL-13Ra;NR4 CD213a1 antigen;CT19;IL-13 receptor subunit alpha-1;IL-13R subunit alpha-1;IL-13R-alpha-1;IL-13RA1;IL13 receptor alpha-1 chain;OTTHUMP00000023890;bB128O4.2.1 (interleukin 13 receptor, alpha 1);cancer/testis antigen 19;interleukin-13 receptor subunit alpha-1 APPROVED protein-coding ENSG00000131724 5974 02125 300119 REVIEWED 1313009 IL15RA interleukin 15 receptor, alpha This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010] 10 10 p15.1 6034340 6060148 - 5994334 6020150 - 1580863;5001122;4994196;5144060;5000755;6480464;6907045 19747902;21098221;21085492;17611121 17703412;17655329;17363735;17121316;16757567;16377614;16060678;15531573;15489334;15265897;15263076;15164054;15039446;12477932;12115611;12114302;12045244;11777964;11418623;11160322;11064452;10480910;9110174;8619474;8104057;17948125;7641685;16284400;8530383;19309557;19258923;19240061;18676680;18656487;18633131;18514540;18505820;18483276;18287585;22496150;16385451;19170196;19406127;19505916;19625176;19692168;19696432;20237496;20424473;20453000;20503287;20671116;21304101;21097393;19821081;21715685;21813181;21689944;22510877;22640659;22049515;22447977;23039249;23508266;21988832;23128233;23074221 3601 E7ETI1;E9PQ64;G8CVM3;H0Y4R3;H0Y6E8;H0YD11;Q13261;Q3B769;Q5JVA3 AA847313;ABBA01034769;AF035279;AF283296;AK304211;AL137186;AMYH01002002;AY316538;BC065506;BC074726;BC107777;BC121140;BC121141;BM546106;CH471072;CR457064;CR542023;DC298692;HQ401283;JA187938;JA187940;NM_001243539;NM_001256765;NM_002189;NM_172200;NR_046362;U31628 AAB88175;AAC50312;AAH65506;AAH74726;AAI07778;AAI21141;AAI21142;AAP69528;AEP26933;BAG65084;CAG33345;CAG46820;CCA64145;CCA64146;EAW86415;EAW86416;EAW86417;EAW86418;EAW86419;EAW86420;EAW86421;EAW86422;NP_001230468;NP_001243694;NP_002180;NP_751950;Q13261 Hs.445124 1667755;1673693;1796078;1858417 IL15RA_751;RH69914;STS-AA028956;STS-U31628 CD215;MGC104179 OTTHUMP00000019021;OTTHUMP00000019023;OTTHUMP00000019024;OTTHUMP00000019026;OTTHUMP00000228697;OTTHUMP00000228698;OTTHUMP00000228699;OTTHUMP00000228700;OTTHUMP00000228701;OTTHUMP00000228702;OTTHUMP00000228703;interleukin-15 receptor subunit alpha APPROVED protein-coding ENSG00000134470 5978 03045 601070 REVIEWED 1351288 IL16 interleukin 16 The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 15 15 q26.3 79276274 79392157 + 81489219 81605104 + 1580863;5024923;4145665;5024931;5024932;5024925;2293182;5024928;5024930;5024933;5024934;5024937;5024938;5024939;5024941;1354526;5024935;5024940;5024924;6480464 21267454;14633438;19295235;18254318;19641139;18264096;16734115;12872394;17431659;16387589;10585533;20618701;17983426;17221335;14698845;15784111;17641011;20079227 17576577;17537415;17303923;16455991;16447204;16189514;16178875;16177102;16144798;15886011;15820794;15619436;15560757;15383572;15342983;15253385;15187155;15175077;14755377;14734747;14718574;14705216;14702039;14657881;12923170;12620798;9144227;19476022;19298795;19258923;19240061;19074885;19073878;19066394;18768901;18676870;18633131;18446062;18394967;18097041;18006695;17703412;17577790;21267712;12477932;12450396;12191564;11999883;11937573;11714796;11032842;10479680;10477592;10438516;10343113;9990060;9743378;9699630;9422780;9271307;8977168;8609984;8125298;7910967;7615501;1851800;8599832;16375755;20578037;16344560;17551575;18821565;19232499;19758567;19773451;19789190;19906316;20237496;20503287;20529140;21036918;18029348;20800603;20802378;20811626;21071540;15682385;16271292;6729885;19913121;20628086;20662556;21094786;22939228;21214401;20878214;21447961;22080865;22745469;21703255;22019522;22923025;23020666;23252864;23455924;19060904;23241166 3603 H0YKB7;H0YLB1;H0YLH9;H0YLL1;H3BN12;H3BT15;H3BVH5;Q14005;Q9UME6 ABBA01060636;ABBA01060637;AC036196;AC103858;AF053412;AF077011;AF121105;AK124565;AK124725;AK126222;AK128740;AK131530;AK222512;AK303659;AK308440;AL109669;AL109774;AL833554;AMYH01006853;AMYH01006854;AY324389;AY497901;BC040272;BC050362;BC064911;BC136660;CH471136;CR749286;DB141707;FJ032370;M90391;NG_029933;NM_001172128;NM_004513;NM_172217;S81601;U82972 AAB36371;AAB58261;AAC12732;AAD04636;AAD15990;AAH40272;AAH50362;AAI36661;AAQ86961;AAR89904;ACI00236;BAC85888;BAC86494;BAD18668;BAD96232;BAG54724;BAH14009;CAH18141;EAW99098;EAW99099;EAW99100;EAW99101;NP_001165599;NP_004504;NP_757366;Q14005 Hs.459095 1704594;1721661;1792616;1796080;1855360;2128117;2136917;2142404;2156565;2180236 G59841;IL16_753;PMC15509P1;RH120871;RH69578;SHGC-12749;SHGC-83106;STS-H57532;STS-W15415;WI-11334 FLJ16806;FLJ42735;FLJ44234;HsT19289;IL-16;LCF;NIL16;PRIL16;prIL-16 OTTHUMP00000185571;OTTHUMP00000190849;OTTHUMP00000190850;lymphocyte chemoattractant factor;neuronal interleukin 16;pro-interleukin-16;prointerleukin 16 APPROVED protein-coding ENSG00000172349 5980 04329 603035 REVIEWED 737535 IL15 interleukin 15 The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011] 4 4 q31 142777204 142874062 + 142557749 142655140 + 1580863;1626609;1626612;1626618;1626616;1626610;2313573;2313574;2313575;2313577;2313578;4892670;4892668;4892672;4892671;4888530;4943853;5000760;4990464;4990461;4990462;4990458;4987456;4994196;5000757;4974390;4981337;4984421;5000755;5000758;5000756;5024938;4996474;5000754;4996471;4996472;5024920;5000761;6480464;6907045;5128683;5147438 16321364;11485899;9826341;12572774;16109314;18697873;17670937;17014667;16098919;11832994;20335267;21235417;20028198;20332642;20003352;18394133;19133918;10823416;11742275;11160248;15072171;16367949;21098221;15843549;17784951;16893395;16629787;17611121;15131572;16750998;20618701;18390740;17911627;20212069;19234203;8942753;20188418;21062445;21309737 14617758;12421959;21132303;22055728;17537415;17363780;17324400;17158609;17142786;17110377;17001647;16791279;16772281;16670327;16606671;16507118;16474399;16333313;16273100;16148110;16136475;16060678;16024007;15993713;15976176;15943034;15778359;15770395;15713701;15710591;15598425;15563472;15557159;15536127;15531573;15489334;15358647;15353479;15347678;15328153;15225634;15039446;15034035;14984938;14982947;14967307;14762166;14702039;14684414;14662842;14648805;16284400;8178155;10851076;7759105;14718574;19593212;19573080;19527514;19505916;19414780;19414770;19414768;19406127;19325034;19258923;19247692;19240061;19237603;19233474;19188921;19176441;19088135;19047106;19019335;18981132;18840707;18818748;18782269;18706446;18676680;18656487;18633131;18583567;18580966;18524812;18523245;18514540;18509087;18505820;18493981;18493613;18482208;18431516;18424079;18419254;18365236;18348982;18311795;18295891;18280748;18275895;18086532;17986095;17982063;17964972;17947730;17938255;17703412;17655329;17635814;17616399;17554368;14607946;14607929;14581351;14499665;12960322;12865812;12857602;12847234;12826231;12805064;12759422;12757260;12747456;12734346;12623850;12598649;12571184;12542496;12477932;12453470;12401478;12393488;12391205;12379638;12297341;12237122;12165497;12147628;12115611;12114302;12089714;11972069;11919076;11876762;11830476;11814312;11807773;11751999;11746271;11702064;11680634;11581322;11369758;11287118;11168804;11134366;11134140;10869346;10784451;9405632;9176231;8977197;8932977;8668345;8568232;8026467;7641685;7568001;12089333;17077296;11122241;10388525;16427155;20956026;21307608;23325887;19913121;20622171;20628086;21074481;20166880;21300928;21190865;21334074;20671116;19170196;19546878;19570824;19592095;19625176;19657406;19692168;19696432;19710458;19756346;19773279;19796965;19835475;19949092;20007590;20043070;20083555;20153259;20190192;20237496;20444155;20453000;20483740;20503287;16482511;20414345;20331472;20381491;20732850;20736143;20140262;20568250;20631381;21048031;21049047;19703339;20430958;20142427;20538758;19821081;21832049;23104097;23153537;20670353;20560915;21169670;21204897;21724805;21779162;21911607;21487524;21715685;21813181;21765616;23214284;23214303;22242124;21242188;21474552;21562158;21572025;21973023;21539877;21723324;21984699;22447977;22467658;21943235;22471460;22510877;21788945;23401701;22496150;22563505;21925225;22084435;22785229;23637340;21945396;21988722;21852331;21769475;22261234;22363690;22535664;22565311;23074221;22440823;17431094;19013323;19449444;20012528;21988832;23058476;23160470;22537815 3600 P40933;Q6FGX7 AA897685;ABBA01069990;AC096774;AC118480;AF031167;AF176907;AK122993;AK290619;AMYH01014575;AY720442;BC018149;BC100961;BC100962;BC100963;BX116580;CA443264;CH471056;CR541980;CR542007;CS112464;CS163144;CS401671;CX761071;CX785233;GM040149;HC087890;JA143001;NG_029605;NM_000585;NM_172175;NR_037840;U14407;X91233;X94222;X94223;Z38000 AAA21551;AAB97518;AAH18149;AAI00962;AAI00963;AAI00964;AAU21241;ABM84635;ABM84636;ABM92165;BAF83308;BAG53839;CAA62616;CAA63913;CAA63914;CAA86100;CAG46777;CAG46804;CAJ13397;CAJ32191;CAL40354;CAS97649;CBI67687;CCA64045;EAX05083;EAX05084;EAX05085;EAX05086;EAX05087;NP_000576;NP_751915;P40933 Hs.168132;Hs.602618 1665548;1699586;2190773 D4S3176;IL15;RH103394 IL-15;MGC9721 OTTHUMP00000164616;OTTHUMP00000164617;OTTHUMP00000218093;OTTHUMP00000228804;OTTHUMP00000228805;interleukin-15 APPROVED protein-coding ENSG00000164136 5977 02776 600554 REVIEWED 1352071 IL17B interleukin 17B The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 144835805 144840813 - 148734023 148739031 - 148753830 148758838 - 724416;1580863;6480464 10639155 16805377;15713213;15489334;12975309;12477932;11738356;10749887;16169070;19845895;22394632;19850743;22379092 27190 Q6IAG3;Q9UHF5 ABBA01026306;AC131025;AF110385;AF152098;AF184969;AF212311;AF218727;AF386077;AMYH01015700;AY358931;BC113925;BC113946;CH471062;CR457192;GM663283;HC025847;NM_014443 AAF01318;AAF28104;AAF78775;AAG39637;AAG44136;AAI13926;AAI13947;AAK60336;AAQ89290;CAG33473;CAV33843;CBH19854;EAW61781;EAW61782;NP_055258;Q9UHF5 Hs.156979 IL-17B;IL-20;MGC138900;MGC138901;NIRF;ZCYTO7 OTTHUMP00000160526;cytokine Zcyto7;cytokine-like protein ZCYTO7;interleukin 20;interleukin-17 beta;interleukin-17B;interleukin-20;neuronal interleukin-17 related factor;neuronal interleukin-17-related factor APPROVED protein-coding ENSG00000127743 5982 05217 604627 REVIEWED 735883 IL17A interleukin 17A The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Jul 2008] 6 6 p12 52159144 52163395 + 52051185 52055436 + 729041;1580863;4839043;4841878;4846398;4831836;4832829;4781444;4888509;4781448;4781452;4889102;4889153;4888523;4888529;4831923;4837793;4831840;4888507;4888522;4888524;4888527;4888531;4889101;4889103;4889110;4889847;4888520;4889113;4889146;4889105;4889114;4889115;4889130;4889132;4889137;4889143;4889139;4143277;4889144;4888525;4889104;4889106;4889151;4838736;4888521;4889152;4888528;4889150;4888526;2325816;4888513;6480464;6484113;6907045;5128683 8390535;18060619;17046971;16305645;19527710;19166776;20925596;14962796;20881082;20876291;19783685;18802100;19373578;20176803;19207263;18536735;19233473;15776385;20003332;20498020;20351038;19995896;19812198;19738511;18338242;17703412;20797909;16785554;19672092;19342416;15730730;12814161;21109552;21091665;20506642;20199725;20437253;20393404;19927541;20421647;19604272;19151189;19226302;18441464;20585449;18941201;20228193;19265125;20413629;19909738;10785455;21062445 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3605 Q16552;Q6NZ94 ABBA01050560;AL391221;AMYH01016349;AY460616;BC066251;BC066252;BC066253;BC067503;BC067504;BC067505;CH471081;CS399132;GM832009;HC025843;HM535222;JA104579;JA381713;NG_033021;NM_002190;U32659;Z58820 AAC50341;AAH66251;AAH66252;AAH66253;AAH67503;AAH67504;AAH67505;AAR23263;ADJ56412;ADQ32019;CAA91233;CAL44889;CAV28580;CBH19852;CCA63959;CCB07363;EAX04362;NP_002181;Q16552 Hs.41724 1657414 RH18032 CTLA8;IL-17;IL-17A;IL17 CTLA-8;OTTHUMP00000016597;cytotoxic T-lymphocyte-associated antigen 8;cytotoxic T-lymphocyte-associated protein 8;cytotoxic T-lymphocyte-associated serine esterase 8;interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8);interleukin-17A APPROVED protein-coding ENSG00000112115 5981 04396 603149 REVIEWED 1351651 IL17C interleukin 17C The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008] 16 16 16 q24 73774673 73776554 + 87232502 87234383 + 88705001 88706882 + 724416;1580863;6480464 10639155 21993848;15489334;12975309;12477932;11984595;19913121;20628086;19423540;20056178;20237496;20406964;20438785;21048031;21628458;23221046;22994872;23359500;22506826 27189 Q9P0M4 ABBA01015843;AC116552;AF152099;AMYH01007912;AY358471;BC069152;BC069410;BC101835;BC112196;CH471184;CQ847631;CS407900;CS613997;FB726961;GM008009;NM_013278 AAF28105;AAH69152;AAI01836;AAI12197;AAQ88835;CAH18037;CAL40892;CAO02250;CAS97406;CAT03419;EAW66798;NP_037410;Q9P0M4 Hs.278911 1797734;5492393;5493355 IL17C_1855;UniSTS:480908;UniSTS:485821 CX2;IL-17C;IL-21;MGC126884;MGC138401 cytokine CX2;interleukin-17C APPROVED protein-coding ENSG00000124391 5983 06863 604628 REVIEWED 1348652 IL17D interleukin 17D The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008] 13 13 13 q11 2339416 2359171 + 20175482 20195237 + 21277482 21297237 + 1580863;6480464 16670296;17068156;15489334;14702039;12975309;12477932;12097364;20237496;22156348;23064961 53342 Q8TAD2 ABBA01068589;ABBA01068590;AF458062;AF479775;AK123964;AL161772;AL512652;AMYH01004950;AMYH01004951;AY078238;AY359113;BC036243;CH471075;FB726946;FB734925;GM040353;NM_138284 AAH36243;AAL86911;AAM12734;AAM77566;AAQ89471;ABM81646;CAS97650;CAT03412;CAV30992;EAX08274;EAX08275;EAX08276;NP_612141;Q8TAD2 Hs.655142 1738367;1796082;1858287 D13S502E;IL17D_1537;RH101972 FLJ30846;IL-17D;IL-22;IL-27;IL27 OTTHUMP00000018104;interleukin 27;interleukin-17D;interleukin-27 APPROVED protein-coding ENSG00000172458 5984 16251 607587 REVIEWED 1605488 IL17REL interleukin 17 receptor E-like 22 22 22 q13.33 34308563 34326686 - 48775069 48793182 - 50432942 50451055 - 20228798;21297633 400935 Q6ZVW7 ABBA01011364;ABBA01011365;ABBA01011366;ABBA01011367;ABBA01011368;AK123987;AL022327;AMYH01012890;AMYH01012891;CH471138;NM_001001694 BAC85743;EAW73487;EAW73488;NP_001001694;Q6ZVW7 Hs.526712 FLJ41993 IL-17 receptor E-like;IL-17RE-like;OTTHUMP00000196724;putative interleukin-17 receptor E-like protein-coding ENSG00000188263 33808 13456 613414 VALIDATED 1322840 IL17F interleukin 17F The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008] 6 6 p12 52209443 52217257 - 52101484 52109298 - 1580863;6480464;6484113 18088064;21477350;11591732;11574464;19414056;19263269;19155467;19019635;18830271;18774769;18769923;18684971;21196754;22219048;20493423;17912466;17828618;17418381;17346928;16961709;16630936;15972674;15703761;15340161;14574404;12477932;11891214;11591768;21189442;19724898;19838108;19838198;19904747;20127054;20173782;20210523;20237496;21044126;20800603;19913121;20618772;20620187;20628086;21350122;20148256;21419044;22038405;21601196;22748467;23111159;21615796;22184122;22312940;22847545;22507625;22123224;22118860;22629719;22142827;22540331;22579472;22461912;23219503;23137879 112744 Q96PD4 ABBA01050558;AF332389;AF384857;AL034343;AMYH01016349;BC070124;CH471081;CS399130;GM832011;JA104581;JA381711;JF305974;NG_031869;NM_052872 AAH70124;AAK83350;AAL14427;ADY18335;CAL44888;CAV28581;CCA63960;CCB07362;EAX04363;EAX04364;NP_443104;Q96PD4 Hs.272295 2113254;2217482 D6S2393;IL17F_3149 CANDF6;IL-17F;ML-1;ML1 IL-24;OTTHUMP00000016602;cytokine ML-1;interleukin-17F;interleukin-24;mutant IL-17F APPROVED protein-coding ENSG00000112116 16404 16224 606496;613956 REVIEWED 1315246 IL17RA interleukin 17 receptor A Interleukin 17A (IL17A)is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. [provided by RefSeq, Jul 2008] 22 22 q11.1 15945849 15971405 + 17565851 17596584 + 1580863;4889102;5144212;5144217;6480464 19783685;21647421;19414809 11381032;9367539;19258923;19244213;18768888;18684971;18348982;18097068;17876645;17703412;17456598;17346928;16805377;16785495;16533341;15972674;15489334;15461802;15340161;12772186;12477932;11966773;11706037;11371660;10591208;14702039;20729198;19235914;20237496;20503287;21145111;16874957;21350122;21530504;17277779;21894442;21279695;23147652;23192273;22484243;22898922;23334598;23501056 23765 Q96F46 ABBA01001459;AC006946;AF021799;AK056836;AK093772;AMYH01012423;BC011624;BC012071;BE242733;BU585070;BX334547;CB044543;CH471193;CS399134;CT841520;GM832013;JA381715;JF305973;NG_028257;NM_014339;U58917 AAB99730;AAH11624;ABM82888;ABM86078;ADY18334;CAJ86450;CAL44890;CAV28582;CCB07364;EAW57738;EAW57739;EAW57740;EAW57741;NP_055154;Q96F46 Hs.48353 1698010;1707278;1722277;1753673;2137772;5016478;5016781 G60051;GDB:434012;RH102534;RH46090;SHGC-107621;SHGC-67307;SHGC-79240 CANDF5;CD217;CDw217;FLJ32274;FLJ36453;IL-17RA;IL17R;MGC10262;hIL-17R IL-17 receptor A;OTTHUMP00000196018;OTTHUMP00000196019;interleukin 17 receptor;interleukin-17 receptor A;truncated IL-17RA APPROVED protein-coding ENSG00000177663 5985 10399 605461;613953 REVIEWED 1322830 IL17RB interleukin 17 receptor B The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008] 3 3 p21.1 53855617 53874867 + 53880577 53899827 + 1580863;6480464 10815801;10749887;19118269;18794098;17975144;17453342;17008703;16609019;16609001;16344560;15489334;15340161;14759258;12975309;12477932;11058597;10748240;20129063;19913121;20628086;20237496;20453000;20800603;20545698;21252617;21473777;22070932;21035370;21570719 55540 C9IZN0;Q9NRM6 ABBA01024471;AC012467;AF208110;AF208111;AF212365;AF250309;AK307749;AMYH01013195;AY359122;AY518533;BC000980;BI458542;CH471055;CS135264;DA093617;NM_018725 AAF78776;AAF86051;AAF86052;AAH00980;AAK37428;AAQ89956;AAR89910;ABM81855;ABM85016;CAJ21520;EAW65298;EAW65299;NP_061195;Q9NRM6 Hs.654970 1698836;2160299;2175944;2185208 RH102982;RH16665;RH44991;SHGC-35928 CRL4;EVI27;IL17BR;IL17RH1;MGC5245 IL-17 receptor B;IL-17 receptor homolog 1;IL-17B receptor;IL-17RB;IL-17Rh1;OTTHUMP00000212736;OTTHUMP00000212737;cytokine receptor CRL4;cytokine receptor-like 4;interleukin 17 receptor homolog 1;interleukin 17B receptor;interleukin-17 receptor B;interleukin-17B receptor APPROVED protein-coding ENSG00000056736 18015 05677 605458 REVIEWED 1314983 IL17RC interleukin 17 receptor C This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011] 3 3 3 p25.3 9894245 9910766 + 9933782 9950314 + 9958758 9975305 + 6480464 18684971;18097068;17911633;16785495;16688746;15489334;15340161;14702039;14504135;12975309;12477932;11706037;8125298;20173024;22744455;21890473;22898922 84818 A8BWC1;A8BWC9;A8BWD5;A8K3Q5;B4DI24;C9JSZ3;C9K0M1;F5H4Z2;F8WB43;F8WC09;F8WD65;F8WE27;F8WEG5;G3V177;Q8NAC3 ABBA01020397;AC018809;AF458065;AK075534;AK092907;AK094746;AK096824;AK225650;AK290670;AK294616;AK295377;AK303171;AK308241;AK315024;AK315053;AMYH01012965;AY358840;AY359098;BC006411;CH471055;CS399136;CS399138;DC381087;DC386743;EF676032;EF676033;EF676034;GM832015;GM832017;GM832034;JA381717;JA381719;NG_029376;NM_001203263;NM_001203264;NM_001203265;NM_032732;NM_153460;NM_153461;NR_037807 AAM77569;AAQ89199;AAQ89456;ABV44615;ABV44616;ABV44617;BAC04001;BAC11677;BAF83359;BAG57799;BAG58336;BAG64270;CAL44891;CAL44892;CAV28583;CAV28584;CAV28588;CCB07365;CCB07366;EAW64021;EAW64022;EAW64023;EAW64024;EAW64025;EAW64026;EAW64027;EAW64028;EAW64029;EAW64030;EAW64031;EAW64032;NP_001190192;NP_001190193;NP_001190194;NP_116121;NP_703190;NP_703191;Q8NAC3 Hs.129959 1646818;1740213;1770018;2140187;2159192;5014051 D3S1652;D8S2278;G10145;SHGC-31307;STS-H27749;WI-17366 FLJ95963;FLJ96005;IL17-RL;IL17RL;MGC10763 IL-17 receptor C;IL-17RL;IL17F receptor;IL17Rhom;OTTHUMP00000158820;OTTHUMP00000180659;OTTHUMP00000200667;OTTHUMP00000207643;OTTHUMP00000207644;OTTHUMP00000207646;interleukin 17 receptor-like;interleukin-17 receptor C;interleukin-17 receptor homolog;interleukin-17 receptor-like protein;zcytoR14 APPROVED protein-coding ENSG00000163702 18358 17142 610925 REVIEWED 1602300 IL17RE interleukin 17 receptor E This gene encodes a protein that shares limited similarity with the interleukin-17 receptor. The function of the encoded protein has not yet been determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 3 3 3 p25.3 9879775 9893567 + 9919303 9933086 + 9944296 9958086 + 6480464 21993849;14702039;12975309;12477932;20459687;16344560 132014 A6NL85;B4DMZ3;C9J1R2;F8WB54;F8WCU7;J3KQN7;Q8NFR9 ABBA01020397;AC018809;AF458069;AK074238;AK096793;AK096801;AK297697;AK298025;AK314476;AMYH01012965;AY358451;BC035478;BC063110;BC137077;BC137078;CH471055;CS407885;CS407894;CS613982;CS613991;DA592287;GM007994;GM008003;NM_001193380;NM_153480;NM_153483 AAH63110;AAI37078;AAI37079;AAM77573;AAQ88816;BAB85028;BAC04863;BAC04864;BAG37081;BAG60055;BAG60327;CAL40887;CAL40890;CAO02245;CAO02248;CAS97401;CAS97404;EAW64016;EAW64017;EAW64018;EAW64019;EAW64020;NP_001180309;NP_705613;NP_705616;Q8NFR9 Hs.390823 1646818;1770018;5022578;5022651 D11S2921;D1S1423;STS-H27749;WI-17366 FLJ23658;MGC71884 IL-17 receptor E;OTTHUMP00000158822;OTTHUMP00000207617;OTTHUMP00000207618;interleukin-17 receptor E APPROVED protein-coding ENSG00000163701 18439 17143 614995 REVIEWED 1353408 IL17RD interleukin 17 receptor D This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin (PMID: 19079364). The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling (PMID: 21663947, 18096367). [provided by RefSeq, Nov 2011] 3 3 p14.3 57099050 57179374 - 57124010 57199403 - 1580863;6480464;6484113 15146197;19079364;18096367;17420726;17035228;16859641;16474841;15489334;15277532;15239952;14742870;14702039;12975309;12958313;12807873;12604616;12477932;11802165;11802164;10737800;20800603;23047677;21663947;22298595;22975329;23169297;23643382;22335910 54756 C9J6R0;Q8NFM7 ABBA01024426;ABBA01024427;ABBA01024428;AC097358;AF458067;AF494208;AF494211;AK001251;AK092579;AK093074;AK125591;AK302045;AL133097;AL833913;AMYH01013216;AY358774;AY489047;BC038369;BC111702;BF803798;BQ017683;CH471055;CN302483;NM_017563 AAI11703;AAM74077;AAM74080;AAM77571;AAQ89134;AAS15051;BAG63437;CAB61408;CAD38769;EAW65329;EAW65330;NP_060033;Q8NFM7 Hs.150725 1647134;1666334;1685313;1749219;1769139;2109431;2112630;5014051;5015619;5015961;5022200;5022651;5037552;5117897;5491822 A003P16;D11S2921;D11S3114;D15S1477;D3S3915;D3S4377;D8S2278;D8S2279;G30998;GDB:631813;IL17RD;IL17RD_9815;L18426;RH94053;SHGC-110892 DKFZp434N1928;FLJ35755;HH18;IL-17RD;IL17RLM;MGC133309;SEF IL-17 receptor D;IL17Rhom;OTTHUMP00000196519;OTTHUMP00000196520;OTTHUMP00000213733;hSef;interleukin-17 receptor D;interleukin-17 receptor-like protein;sef homolog APPROVED protein-coding ENSG00000144730 17616 606807;615267 VALIDATED 1348622 IL18BP interleukin 18 binding protein The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 11 11 q13 71387606 71391222 + 71709958 71713965 + 1580863;4889578;4889551;4889400;2313895;4892618;6480464 19164288;20026745;19805173;18959458;11577031 21656327;10023777;11890646;18594952;18092318;17951325;16341674;16043644;15489334;15340161;15188356;14702039;12960225;12874202;12482935;12477932;12381835;11907126;11739524;10737800;10655506;10329540;10094485;20673868;21078084;16712791;19046253;20140691;19394601;19699611;19961286;20072626;20331378;20452482;17207965;21867627;21418867;21440322;21126942;22289535;22913567 10068 G3V1C5;O95998 AB019504;ABBA01017544;AF086560;AF110798;AF110799;AF110800;AF110801;AF122906;AF122908;AF215907;AK098255;AL698586;AMYH01003790;AP002490;AW295729;BC044215;BF934342;BM819966;BX357194;CB154498;CH471076;NG_029021;NM_001039659;NM_001039660;NM_001145055;NM_001145057;NM_005699;NM_173042;NM_173044 AAD17187;AAD17188;AAD17189;AAD17190;AAD17191;AAD17192;AAD41051;AAD41053;AAF31697;AAH44215;ADQ33099;BAA76374;BAG53602;EAW74812;EAW74813;EAW74814;EAW74815;EAW74816;EAW74817;EAW74818;EAW74819;EAW74820;NP_001034748;NP_001034749;NP_001138527;NP_001138529;NP_005690;NP_766630;NP_766632;O95998 Hs.591967 1685482;1797736;2134900;2140792 IL18BP_761.2;NUMA;RH80107;STS-AA026901 IL18BPa IL-18BP;MC51L-53L-54L homolog gene product;OTTHUMP00000165108;OTTHUMP00000179141;OTTHUMP00000179142;OTTHUMP00000179143;OTTHUMP00000196341;OTTHUMP00000236509;OTTHUMP00000236510;OTTHUMP00000236511;interleukin-18-binding protein;tadekinig-alfa APPROVED protein-coding ENSG00000137496 5987 04984 604113 REVIEWED 1315107 IL19 interleukin 19 The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 q32.2 205038838 205082948 + 206972215 207016326 + 1580863;5037232;5037236;5024938;6480464;6484113;6907045 18246602;15557163;20618701 22583192;21767236;11196675;19087313;18809337;18669613;18479293;18006695;17522354;17465720;17449492;17263806;17083366;16778150;16710414;16631120;15827959;15815689;15340161;15120647;14675174;14580208;12486876;12477932;12403790;12370360;12351624;12023331;11929132;11564763;11163236;15857508;17703412;19258923;19430480;19573080;19773279;19786281;20237496;20379614;20503287;20699607;20966397;20228799;21102463;20603037;20806065;20568250;20800603;20976276;21297633;22158875;23000500;21814157;21925224;22186257;22021194;23128233 29949 Q9UHD0 ABBA01010193;ABBA01010194;AF192498;AF276915;AF390905;AF453946;AL049615;AL513315;AMYH01001679;AY040367;CA306526;CH471100;NM_013371;NM_153758 AAF06663;AAG16755;AAI48535;AAI53128;AAI72584;AAK64498;AAK91776;AAN40906;CAB72342;EAW93522;EAW93523;NP_037503;NP_715639;Q9UHD0 Hs.661017 1669339;1698450;2129907;2151328;2219162 AL009417;D1S177;IL19_2666;RH102774;SHGC-76229 IL-10C;MDA1;NG.1;ZMDA1 OTTHUMP00000034568;OTTHUMP00000216804;interleukin-19;melanoma differentiation associated protein-like protein;melanoma differentiation-associated protein-like protein APPROVED protein-coding ENSG00000142224 5990 05747 605687 REVIEWED 730894 IL18 interleukin 18 (interferon-gamma-inducing factor) The protein encoded by this gene is a proinflammatory cytokine that augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] 11 11 q22.2-q22.3 111519186 111540050 - 112013974 112034840 - 1580863;2315917;4889913;4889836;4889841;4889862;4889863;4889585;4889590;4889903;4889964;4889917;4889927;4889475;4889574;4889856;4889900;4889908;4889924;4889415;4889548;4889401;4889404;4889454;4889575;4889823;4889417;4889491;4889510;4889526;4889542;4889550;4889581;4889883;4889916;4889923;4889960;2315887;4889416;2317284;4889543;4889546;4889547;4889910;4889159;4889402;4889898;4889400;729222;4889473;2311084;4889556;4889578;4889403;4889158;4889576;4891154;4889500;4889815;4889551;4889584;729357;4889555;4889865;2315889;4889503;4889825;4889844;5144220;6480464;5490305;6893450;6893446;6893447;6893449;6893448;6484113;6907045 17188500;17664259;15955140;15308504;11215816;11174201;17767553;17400729;19187612;15606801;17305282;15934281;17947451;19265174;11766995;19745201;18826499;16406079;19096963;20522205;19717152;19238530;18679114;19208460;16734560;19011009;20674684;11807395;11494369;9846824;20130064;18598692;20543002;17323858;16433859;15770015;19853379;19084941;18848347;9834127;21045270;20601655;18200581;19955748;19672068;20497957;19805173;12032269;12529262;19171043;19357034;19164288;19497959;20644901;19197224;21171972;16864728;17015003;20026745;18043444;11739527;19394645;11083766;18367607;15147345;16052682;14727452;21257923;21240009;11342578;22518072;22046355;20980973;21289055 21120501;22226490;11598150;8999896;8766574;11905033;11466388;9792649;10653850;10227975;10000000;11477102;11506998;19638090;19633236;19622039;19584085;19573080;19527514;19508433;19473509;19470251;19453784;19443970;19420105;19390575;19387647;19347053;19342689;19339355;19309308;19288449;19265133;19263242;19258923;19247692;19230467;19229765;19178691;19176284;19152241;19138654;19126646;19110334;19102398;19097518;19092166;19091595;19077897;19074885;19074166;19073159;19064572;19036565;19031096;19019335;19016763;18983635;18949051;18940019;18930181;18922682;18853133;18835036;18821674;18819819;18818761;18818748;18803662;18781864;18780764;18777510;18773860;18706445;18685607;18684981;18683145;18662786;18632660;18628791;18599493;18594952;18566306;18562922;18555694;18523012;18520705;18514661;18514203;18504197;18484687;18464913;18442334;18433937;18399311;18391570;18386818;18359638;18336908;18307517;18297714;18295340;18295214;18287807;18286551;18279187;18250135;18237555;18235016;18225563;18225542;18178861;18165223;18163476;18160936;18160214;18093181;18092318;18064631;18050226;18050195;18024284;17988833;17984243;17981284;17965486;17964972;17962365;17959666;17951325;17948066;17922692;17919265;17907957;15471361;15463896;15371332;15358638;15327523;15326478;15302292;15277983;15230817;15225625;15212675;15140035;15104599;15005726;14998974;14991611;14960579;14764217;14738910;14734463;14725568;14718574;14709415;14697936;14679107;14662834;14660053;14640907;14630085;14617033;14605444;14584052;14581397;14561165;14556808;14504095;12947340;12941729;12938205;12911784;12874316;12858406;12857602;12847274;12819633;12796418;12794718;12788305;12759422;12748489;12738632;12679613;12654091;12616343;12594843;12572878;12571842;12527894;12517977;12482935;12477932;12472673;12472176;12456593;12438388;12424620;12401730;12390326;12387830;12381835;12377944;12366781;12207348;12172382;12149432;12105209;11960649;11958300;11936774;11920321;11907126;11895335;11894141;17893261;17854431;17851835;17851127;17845300;17765248;17708609;17703412;17691022;17688413;17687255;17683383;17674327;17671745;17658666;17626902;17625598;17611971;17611643;17611614;17610422;17597823;17597334;17586702;17530707;17517876;17517100;17487222;17461482;17445542;17399992;17396252;17373930;17364073;17361200;17355643;17343316;17336309;17301041;17299019;17262717;17252172;17237446;17235324;17225924;17225121;17222831;17192354;17142727;17117487;17077020;17075246;17072982;17055358;17027359;17016692;17001321;16979683;16971411;16948912;16943580;16909454;16903774;16883062;16842597;16839849;16827865;16820919;16806233;16772281;16767839;16759385;16738942;16671950;16650813;16635219;16621994;16584830;16571086;16563174;16556702;16516851;16514436;16493047;16492204;16443795;16433722;16428475;16424284;16420594;16406656;16405895;16373926;16358956;16339124;16325763;16316892;16315783;16306765;16306764;16306550;16273766;16266857;16260350;16243298;16215941;16186395;16084898;16078996;16061751;16059673;16053025;16052331;16051062;16049975;16043644;16024007;15963597;15955098;15932380;15927856;15896202;15894108;15863395;15860756;15860738;15842270;15826815;15816833;15806006;15802534;15789055;15786533;15760905;15753257;15731584;15728489;15710458;15674367;15663745;15646011;15645140;15644127;15643599;15585330;15581980;15555533;15489334;11888846;11855785;11805151;11798931;11790772;11781190;11770036;11714826;11714750;10681439;10639148;10460493;9693051;9334240;9325300;9108085;8999548;8666798;7477296;12096920;22595646;22980562;19913121;20485444;20530519;20538124;20628086;20673868;20735470;20797704;20818961;16780720;20140691;20689079;21241672;21334074;20586818;21382268;20565717;16482511;19088061;16647017;17605864;17666338;18538088;18678419;18937548;19131059;19200605;19285156;19394601;19403407;19455410;19466545;19469892;19509137;19538326;19550095;19553661;19581111;19593889;19605669;19637196;19638429;19639049;19642044;19657406;19669125;19669363;19684151;19687159;19692203;19699611;19712260;19740312;19757044;19758166;19773279;19789190;19796548;19811440;19816189;19817957;19865096;19879772;19900154;19907017;19961286;19961892;20003764;20017708;20056178;20060272;20061784;20083555;20096599;20097272;20137369;20150558;20169140;20216908;20227257;20227263;20237496;20304021;20306652;20306665;20331838;20331879;20339966;20350254;20399512;20416077;20418295;20424918;20441695;20452482;20478055;20490717;20490891;20525402;20545903;20233133;20617584;21356600;20140262;20558561;20568250;20885390;20960175;20964873;20971720;21061265;20414054;20374388;20412718;20627039;20482998;21035858;20349123;21440322;21239711;21149337;21224476;19954659;20340055;20824296;21336086;21470492;21867627;22515481;23027874;23153245;21437204;21661419;21249128;21145535;21323573;21393015;21395662;21398142;21742843;21149398;21836143;21836147;19236760;21273776;21532063;21571262;21526496;21538928;21321938;21323571;21636628;22723447;23214284;20423837;21264805;21288140;22749533;23137633;23018032;21126942;21672342;22863216;21710494;21969001;22058412;21418867;21464751;21802664;21840518;21394384;21742406;21225442;21510800;21943853;22489883;21448661;21864160;21965503;22008665;22149501;22825306;23073298;23403235;23526823;22228436;22462419;21832842;21139048;21421008;21906983;21118329;21418456;22015107;21481392;21611751;21842238;21876975;22468101;22125454;22135309;22307326;22373801;22347372;22386125;22678894;22686311;21656327;21681500;21733366;22136483;22141572;22289535;20186552;20725807;21484426;21922295;22364914;22493490;22587568;22840759;23242610;22484385;22596175;22537138;22811364;22996386;22639237;23207179;23276493;22883217;23075512;23298491;21963094;21988832;23000965;23056251;23132931;22837141;22945280;23178856;23028054;22664470;21487696;22325058;22537218;22613414;22913567;23085113;23327592;23587914;22531046;22900713 3606 Q14116 AB015961;ABBA01039802;ABBA01039803;ABBA01039804;AF077611;AF380360;AJ295724;AK311301;AMYH01004035;AP002007;AP002884;AY044641;AY266351;BC007007;BC007461;BC015863;BU633686;CH471065;CR541973;CR542001;D49950;NG_028143;NM_001243211;NM_001562;U90434 AAB50010;AAC27787;AAH07007;AAH07461;AAK57024;AAK95950;AAP92112;BAA08706;CAC01436;CAG46771;CAG46798;EAW67184;EAW67185;NP_001230140;NP_001553;Q14116 Hs.83077 1683327;1797738;5024756 IL18_1978;RH38662;RH80030 IGIF;IL-18;IL-1g;IL1F4;MGC12320 IFN-gamma-inducing factor;IL-1 gamma;OTTHUMP00000234749;OTTHUMP00000234750;OTTHUMP00000234751;iboctadekin;interferon gamma-inducing factor;interleukin-1 gamma;interleukin-18 APPROVED protein-coding ENSG00000150782 5986 02976 600953 REVIEWED 1315691 IL18RAP interleukin 18 receptor accessory protein The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for IL18. This protein enhances the IL18 binding activity of IL18R1 (IL1RRP), a ligand binding subunit of IL18 receptor. The coexpression of IL18R1 and this protein is required for the activation of NF-kappaB and MAPK8 (JNK) in response to IL18. [provided by RefSeq, Jul 2008] 2 2 q12 102401686 102435457 + 103035254 103069025 + 1580863;5024946;4889578;6480464;6484113 18774397;19164288 9792649;19473509;19336475;19180518;19103669;19073967;18805825;18439550;18311140;18092318;17897836;16043644;15815621;15760905;15489334;12477932;11788557;11046021;10951141;10925275;19542083;19693089;19714583;20176734;20190752;20237496;20353565;19760754;21072187;21102463;20647273;21832049;22289858;23042114;23128233;22685567 8807 C9JLE2;O95256;Q3KPE8 ABBA01073899;AC007248;AC007278;AF077346;AK300026;AMYH01010821;BC069630;BC106764;BC106765;BC137474;BC137475;CH471127;DQ116957;JA738813;NG_011481;NM_003853 AAC72196;AAH69630;AAI06765;AAI06766;AAI37475;AAI37476;AAY15049;AAY15080;AAZ52551;BAG61837;CCF77059;EAX01791;NP_003844;O95256 Hs.158315 ACPL;CD218b;CDw218b;IL18RB;MGC120589;MGC120590 CD218 antigen-like family member B;IL-18 receptor accessory protein;IL-18 receptor beta;IL-18R-beta;IL-18RAcP;IL-18Rbeta;IL-1R accessory protein-like;IL-1R-7;IL-1R7;IL-1RAcPL;OTTHUMP00000161337;OTTHUMP00000203106;accessory protein-like;interleukin-1 receptor 7;interleukin-18 receptor accessory protein;interleukin-18 receptor accessory protein-like;interleukin-18 receptor beta APPROVED protein-coding ENSG00000115607 5989 05147 604509 REVIEWED 1318449 IL18R1 interleukin 18 receptor 1 The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. [provided by RefSeq, Jul 2008] 2 2 q12 102345529 102381650 + 102979097 103015218 + 1580863;4889841;5024942;4889574;5024943;5024944;5024945;5024946;5024948;5024947;2311529;6480464;6484113 15308504;20860503;19265174;15470078;14641797;19910030;18774397;11972614;18382474;19269041 19258923;9325300;19473509;19249008;19180518;18715339;18311140;17703412;17403771;16979683;16971411;16467876;16236915;16043644;15860756;15815621;15760905;15489334;15323361;15202785;15063762;15044087;15009178;14734551;14662859;14662834;12477932;12096920;10925275;10227969;10191101;8898719;8626725;22136483;20627039;20833839;21102463;20816195;19394601;19592492;19817957;19879772;20190752;20237496;20353565;20354066;20379614;20424473;20503287;23103228;19954659;21742843;21435242;21965503;22289858;22561531;23028483;23042114;23128233 8809 Q13478;Q86YL8 ABBA01073899;AC007248;AK313967;AMYH01010821;AY192162;BC069575;BC093975;BC093977;BC143403;BC143405;CH471127;NM_003855;U43672 AAC50390;AAH69575;AAH93975;AAH93977;AAI43404;AAO41718;AAY15048;BAG36682;EAX01792;EAX01793;EAX01794;NP_003846;Q13478 Hs.469521 1706058;1796086;5017461 IL18R1_150;SHGC-80064;Sctt010 CD218a;CDw218a;IL-1Rrp;IL18RA;IL1RRP CD218 antigen-like family member A;IL-18R-1;IL-18R1;IL1 receptor-related protein;IL1R-rp;OTTHUMP00000161340;OTTHUMP00000203113;cytokine receptor;interleukin-18 receptor 1 APPROVED protein-coding ENSG00000115604 5988 05138 604494 REVIEWED 735707 IL1A interleukin 1, alpha The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008] 2 2 q14 113247963 113259442 - 113531492 113542971 - 1300048;1358667;1580863;2311062;2311084;2311094;2311069;2311098;2311065;2311066;2311100;2311064;2311067;2311075;2311076;2311092;2311088;2307061;2317657;4142849;4143183;4142860;2314952;4142804;4142835;4142838;4891398;4142803;4142790;4142788;4142832;4142854;4142859;4142809;4142818;4142806;4143222;4142855;4142811;4142802;4142805;4142793;5490209;6480464;6484113;6907117;6907045;6907106;6906881;6907107;6907109;6907069;5131471;6907377;6907070;6907113;6907071;6907373;6907116;6907105;6907108;5131286 10716257;18211631;19171043;16616101;7787209;16024175;12941768;11005132;15580020;17953531;8612552;2405400;19535096;17651586;18638276;18978347;14633625;8333775;10358201;11535264;19595018;12752325;9176116;9100454;18524391;17309781;20385541;20555424;10882225;18042282;14533660;12377989;11192540;12528118;12663678;17638785;11917281;18763028;12745880;19505916;20081871;17353161;12631337;22795294;10555884;9636192;21716595;21442011;19283466;20551628;21690238;19295493;20379758;21049406;12837270;10469263;20811626 19348329;17717316;16961803;22312160;22417897;21449691;22124068;22216303;10861041;18329368;10748004;1924307;2989698;6209582;3493774;1739124;19594368;19573080;19563289;19559392;19546559;19527514;19497711;19479237;19470040;19453261;19435817;19431193;19408823;18587204;18576312;18510611;18498295;18496214;18484691;18484169;18469698;18441098;18416756;18416755;18395750;18393655;18361934;18322311;18321309;18315433;18306451;18292602;18288454;18284424;18278133;18271063;18199150;18166103;18158110;18157711;18086816;18085494;18063673;18052703;18038187;18024394;17997719;17986158;17978470;17964974;17960403;17954336;17949817;17948066;17941080;17932347;17926179;17919610;17907045;17889143;17823082;19336475;19336370;19332120;19307598;19294239;19290009;19280228;19279357;19267917;19263529;19258923;19247983;19247692;19240061;19225544;19204921;19194673;19191034;19188531;19184295;19180798;19180518;19158434;19155622;19141860;19141488;19131662;19117745;19110536;19099590;19088500;19086955;19076825;19074885;19066720;19053923;19046297;19042953;19035492;19028820;19026558;19019335;19013788;19012493;18974842;18974840;18971305;18952231;18941541;18838388;18834321;18832862;18821666;18818748;18815552;18787502;18773331;18760325;18723088;18717723;18716798;18714935;18709454;18702109;18676870;18676680;18676404;18673406;18666137;18633131;18632425;18631256;18628526;18628242;18624935;18615110;18607773;17703412;17627763;17622713;17621543;17610660;17596594;17584583;17575917;17573384;17549071;17541168;17532232;17507369;17500214;17492470;17477815;17473736;17471097;17460270;17458495;17449468;17448042;17444864;17444587;17440718;17436000;17391495;17388919;17378887;17371964;17369174;17360358;17355643;17348886;17335373;17335371;17335370;17331078;17293495;17290104;17257312;17244613;17214636;17205326;17716546;17711477;17197697;17179726;17149369;17141301;17140155;17138334;17083033;17034724;17012236;17002905;16978691;16971486;16965825;16965524;12746488;12746420;12742380;12737276;12730545;12729191;12714264;12710950;12702109;12673844;12667716;12651617;12641660;12626603;12622850;12613995;12598547;12562360;12558933;12558814;12530978;12528119;12519748;12477932;12453471;12445604;12445219;12425801;12404162;12390476;12370389;12362317;12242547;12220547;12218254;12212456;12210881;12209090;12195069;12164325;12161036;12149413;12140751;12115182;12115161;12102486;12101079;12100571;12082592;12070246;12052541;12052540;12051868;12047332;12037600;12034804;12028539;11991722;11991668;11956022;11940570;11930657;11921766;11911995;11895546;11895290;11858158;11840488;11790645;11784248;11777547;11774564;11774556;11737511;11703512;11669478;11640949;11574262;11554782;11466363;11453239;11448121;11436125;11427627;11423389;11350506;11350500;11278614;11241561;11233912;11145836;11145356;11138328;11093146;11079552;11065142;10998424;10953177;10860666;10744718;10625660;10512743;10441334;9820540;9169134;8621446;8436814;8370968;8346241;8188271;7878046;7857652;7818827;7695626;7566121;7526541;7499244;7494249;3486405;3485152;3281727;2994016;2783369;2635664;2346741;1675504;1584804;8938574;8892361;7706435;1993354;16160188;15481145;12089333;9658081;9225992;9108403;8764000;7815507;7511078;7561697;1905933;1548758;8458986;16934308;9185130;2536171;16792821;16375755;16410064;16403098;16389181;16384981;16378839;16369899;16361815;16318580;16317381;16304445;16291395;16268484;16246569;16230423;16226351;16206345;16159520;16155691;16115908;16106254;16101131;16100774;16078996;16046471;16030091;16021081;15986200;15974847;15954918;15951664;15931231;15854776;15836820;15830637;15797878;15777329;15745939;15737206;15733644;15732864;15727567;15726267;15723707;15694997;15679582;15679580;15638425;15633328;15592292;15587751;15581980;15566952;15563458;15562910;15562658;15561982;15551344;15514971;15489334;15489227;15476179;15468358;15465625;15381245;15377701;15361128;15351436;15341923;15338333;15308963;15270852;15248873;15238767;15220553;15219382;15201366;15190266;15170937;15130917;15117956;15082121;15068111;15050696;15039285;15036245;15009111;15007345;14997019;14986816;14984963;14983027;14974822;14735144;14705223;14693849;14688369;14674121;14673470;14672899;14664464;14656692;14644395;14639688;14634838;14612453;14584862;14566095;14514232;13679381;12974682;12947160;12946945;12931024;12930389;12930304;12928381;12928052;12913118;12901853;12899665;12890860;12874528;12869004;12824054;12801479;12794386;12782964;12759172;12752101;12749050;16410066;16945028;16938461;16931944;16930778;16918024;16911569;16907768;16905534;16900886;16888077;16885196;16879223;16856121;16842617;16814297;16788102;16733901;16720107;16719905;16708852;16702372;16684536;16636934;16619041;16573560;16567828;16564703;16564702;16546408;16517748;16510430;16508980;16504015;16478776;16464738;16433908;16428739;16411061;22151432;22633328;21270123;20565898;18336824;18583979;18615092;18708672;19170196;19625176;19648252;19658300;19661089;19671938;19680808;19683555;19684156;19692168;19701653;19702713;19708438;19729601;19733643;19738620;19742166;19764937;19773279;19773451;19775068;19786079;19789190;19792847;19805069;19811432;19820020;19844779;19860911;19889475;19892918;19917630;19926874;19934104;19948975;20005085;20011938;20027454;20056178;20059417;20059631;20065999;20070880;20080142;20113359;20113413;20116409;20127018;20131253;20141484;20157068;20169140;20173430;20178882;20192980;20196868;20200332;20207250;20213229;20217044;20220089;20227257;20237496;20335539;20347268;20353565;20371868;20400062;20413850;20418110;20427258;20452482;20453000;20459687;20472930;20490891;20495422;20503287;20536609;2946959;11264025;20140262;20568250;20800603;20844546;20848459;20934174;20940514;20942594;20959405;20961668;21035110;21037510;21048327;21054222;21070631;21086908;20182449;10854325;20490394;20889944;21107309;19913121;20299682;20445556;20534741;20536507;20561568;20574532;20594066;20595916;20602615;20603037;20603050;20628086;20630038;20673868;20677014;20725607;21133705;21154765;21205020;20619343;21311438;23100272;21279638;21393239;21385326;21621860;21712624;21620624;21518761;21196890;21847358;23018032;23349093;22949675;21235388;21968104;22083707;21795706;21394384;20847078;21816944;21768915;22153345;22344672;22678894;21509504;22143786;23271701;22282663;21871094;22177239;21682548;22675954;22805136;22732089;22879895;22197408;22234841;23159404;23395675;21336718;22582837;23203659;23241110;22348697;23076369;22868802;19884766;22285242;22513697;23216199 3552 P01583 ABBA01074249;AC079753;AC112235;AF536338;AK314850;AMYH01010966;BC013142;BC035169;BN000002;BT007014;CA307202;CH471217;CR457414;M15329;NG_008850;NM_000575;X02531;X02851;X03833;X56086 AAA59133;AAH13142;AAM96189;AAP35660;AAX93054;ABM81601;ABM84782;BAG37367;CAA26371;CAA26604;CAA27448;CAA39566;CAD29871;CAG33695;EAW73604;NP_000566;P01583 Hs.1722 1670722;1694518;1710504;1741025;1741161;1741495;1742419;1742853;1742861;1853402;2113552;2118293;2190607;5122315 D2S2565;G43002;GDB:177384;GDB:178390;GDB:181250;GDB:190869;GDB:196942;GDB:210902;GDB:211100;IL1A;IL1A_v436;RH18071;SHGC-6140;SHGC-86275 IL-1A;IL1;IL1-ALPHA;IL1F1 IL-1 alpha;OTTHUMP00000161990;OTTHUMP00000203692;hematopoietin-1;interleukin 1 alpha;interleukin-1 alpha;preinterleukin 1 alpha;pro-interleukin-1-alpha APPROVED protein-coding 5991 00988 147760 REVIEWED 1313781 IL1F10 interleukin 1 family, member 10 (theta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 2 2 q13 113542018 113549898 + 113825547 113833427 + 1580863;6480464 22312160;12477932;11991723;11991722;11747621;11574262;11466363;11278614;11145836;11093146;10860666;10744718;10625660;10512743;9169134;8188271;18484691;18361937;18063673;17975119;16361275;15815621;15489334;12975309;18464913;19023099;20141484;20237496;20800603;20975573;19913121;20628086;21300955;20959797;22315422;22939635 84639 H7BXV3;Q8WWZ1 ABBA01074247;AC016724;AF334755;AF334756;AMYH01010967;AY026753;AY029413;AY358846;AY972854;BC103966;BC103967;BC103968;BN000002;CH471217;NM_032556;NM_173161 AAI03967;AAI03968;AAI03969;AAK01948;AAK33010;AAK68048;AAK68049;AAQ89205;AAX59032;AAY14991;CAD29878;EAW73619;EAW73620;NP_115945;NP_775184;Q8WWZ1 Hs.306974 1783908;2217484 IL1F10_3319;SHGC-106894 FIL1-theta;FKSG75;IL-1HY2;IL-38;IL1-theta;IL1HY2;MGC119831;MGC119832;MGC119833 FIL1 theta;IL-1 theta;IL-1F10 (canonical form IL-1F10a);OTTHUMP00000162018;OTTHUMP00000203696;interleukin-1 HY2;interleukin-1 family member 10;interleukin-1 receptor antagonist FKSG75;interleukin-1 receptor antagonist-like FIL1 theta;interleukin-1 theta APPROVED protein-coding ENSG00000136697 15552 17144 615296 REVIEWED 730981 IL1B interleukin 1, beta The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008] 2 2 q14 113303808 113310827 - 113587337 113594356 - 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3553 C9JSC2;C9JVK0;C9JWV2;P01584 AB451494;ABBA01074249;AC079753;AF043335;AK313983;AMYH01010966;AY137079;BC008678;BN000002;BT007213;CH471217;CR407679;JA104597;K02770;M15330;M15840;M54933;NG_008851;NM_000576;X02532;X04500;X52430;X52431;X56087 AAA36106;AAA59135;AAA59136;AAA74137;AAC03536;AAH08678;AAM88883;AAP35877;AAX88888;ABM81599;ABM84780;BAG70308;CAA26372;CAA28185;CAA39567;CAD29872;CAG28607;CCA63968;EAW73605;EAW73606;EAW73607;NP_000567;P01584 Hs.126256 1662400;1671063;1722381;1742331;1791344;1793908;1794554;1796088;1847193;1854759 D2S2849;G10509;G60262;GDB:196343;IL1B_353;PMC104510P1;PMC305895P1;PMC317379P1;RH11481;RH48318 IL-1;IL1-BETA;IL1F2 IL-1 beta;OTTHUMP00000162031;OTTHUMP00000203693;OTTHUMP00000203694;OTTHUMP00000203695;catabolin;interleukin-1 beta;preinterleukin 1 beta;pro-interleukin-1-beta APPROVED protein-coding ENSG00000125538 5992 00985 137215;147720 REVIEWED 1352690 IL1R2 interleukin 1 receptor, type II The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012] 2 2 q12 101974738 102011317 + 102608306 102644885 + 1580863;5490209;6480464;6484113;6907045 20081871 8898719;19527514;19453261;19401759;19336370;19258923;19180518;19026558;19019335;18818748;18315432;18096476;17919610;17703412;17702847;17517439;17482186;17413037;17324958;17307738;16971486;16596202;15815621;15705625;15653174;15489334;14674121;12794127;12530978;12477932;12377932;12372465;12363051;12356774;11846196;11804955;11520075;11023264;10210771;10191101;9862719;9168406;9166705;9159157;8985204;8894439;8786316;8702856;8698397;8634411;8332913;8294881;7989776;7963543;7878046;7564267;1834697;1834644;1833184;9417814;19913121;20628086;20652271;20654748;20673868;19489917;19573080;19773279;19948975;20062062;20237496;20353565;20452482;20503287;17207965;20140262;20568250;21041274;21297633;1830582;21083841;21666788;21683158;21704385;22048455;23395675;23128233;23453885;21670103 7850 C9JNR0;P27930 ABBA01073900;AC005035;AC007165;AK130412;AK309161;AMYH01010819;AY124010;BC012346;BC027733;BC039031;CH471127;CS068590;CS435061;DC380050;FJ200480;HI582479;NM_001261419;NM_004633;NR_048564;U64094;U74649;X59770 AAB05878;AAD00242;AAH27733;AAH39031;AAK52072;AAM64221;ACO54877;ADQ33008;CAA42441;CAI84626;CAL63915;CBX46851;EAX01800;EAX01801;EAX01802;EAX01803;NP_001248348;NP_004624;P27930 Hs.25333 1672494;2135149 SHGC-35080;WI-11083 CD121b;CDw121b;IL-1R-2;IL-1RT-2;IL-1RT2;IL1R2c;IL1RB;MGC47725 CD121 antigen-like family member B;CDw121b;IL-1 type II receptor;IL-1R-2;IL-1R-beta;IL-1RT-2;IL-1RT2;OTTHUMP00000161283;OTTHUMP00000207968;OTTHUMP00000207969;antigen CDw121b;interleukin 1 receptor type II variant 3;interleukin-1 receptor beta;interleukin-1 receptor type 2;interleukin-1 receptor type II;type II interleukin-1 receptor, beta APPROVED protein-coding ENSG00000115590 5994 00995 147811 REVIEWED 735979 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. [provided by RefSeq, Jul 2008] X X p22.1-p21.3 28515480 29884761 + 28605681 29974017 + 1302409;1601578;1580863;6480464;7240710 10471494;16470793 19012350;18801879;18467032;18253029;15300857;15123616;12783849;12777533;12477932;11076863;10882729;10757639;8964912;8826442;8230164;1605216;19913121;20628086;20673868;20838585;19736351;20452482;20479760;21271657;21491612;17110338;21926414 11141 Q7Z2K4;Q9NZN1 AB101891;AB101892;AB101893;AB101894;AB101895;AB101896;AB101897;AB101898;AB101899;AB101900;AB101901;AB101902;AB101903;AB101904;AB101905;AB101906;AB101907;AB101908;AB101909;AB101910;AB102650;ABBA01072744;ABBA01072745;ABBA01072746;ABBA01072747;ABBA01072748;ABBA01072749;ABBA01072750;ABBA01072751;ABBA01072752;ABBA01072753;ABBA01072754;ABBA01072755;ABBA01072756;ABBA01072757;ABBA01072758;ABBA01072759;ABBA01072760;ABBA01072761;ABBA01072762;ABBA01072763;ABBA01072764;ABBA01072765;ABBA01072766;ABBA01072767;ABBA01072768;ABBA01072769;ABBA01072770;ABBA01072771;ABBA01072772;ABBA01072773;ABBA01072774;ABBA01072775;ABBA01072776;ABBA01072777;ABBA01072778;ABBA01072779;ABBA01072780;ABBA01072781;ABBA01072782;ABBA01072783;ABBA01072784;ABBA01072785;ABBA01072786;ABBA01072787;ABBA01072788;ABBA01072789;ABBA01072790;ABBA01072791;ABBA01072792;ABBA01072793;ABBA01072794;ABBA01072795;ABBA01072796;ABBA01072797;ABBA01072798;ABBA01072799;ABBA01072800;ABBA01072801;ABBA01072802;ABBA01072803;ABBA01072804;ABBA01072805;ABBA01072806;ABBA01072807;ABBA01072808;ABBA01072809;ABBA01072810;ABBA01072811;ABBA01072812;ABBA01072813;ABBA01072814;ABBA01072815;ABBA01072816;ABBA01072817;ABBA01072818;ABBA01072819;ABBA01072820;ABBA01072821;ABBA01072822;ABBA01072823;ABBA01072824;ABBA01072825;ABBA01072826;ABBA01072827;ABBA01072828;ABBA01072829;ABBA01072830;ABBA01072831;ABBA01072832;ABBA01072833;ABBA01072834;ABBA01072835;ABBA01072836;ABBA01072837;ABBA01072838;ABBA01072839;ABBA01072840;ABBA01072841;ABBA01072842;ABBA01072843;ABBA01072844;ABBA01072845;ABBA01072846;ABBA01072847;ABBA01072848;ABBA01072849;ABBA01072850;ABBA01072851;ABBA01072852;ABBA01072853;ABBA01072854;ABBA01072855;ABBA01072856;ABBA01072857;ABBA01072858;ABBA01072859;ABBA01072860;ABBA01072861;ABBA01072862;ABBA01072863;ABBA01072864;ABBA01072865;ABBA01072866;ABBA01072867;ABBA01072868;ABBA01072869;ABBA01072870;ABBA01072871;ABBA01072872;ABBA01072873;ABBA01072874;ABBA01072875;ABBA01072876;ABBA01072877;ABBA01072878;ABBA01072879;ABBA01072880;ABBA01072881;ABBA01072882;ABBA01072883;ABBA01072884;AC002367;AC003659;AC005748;AC112495;AC121343;AC121344;AC129851;AC129852;AC134149;AF181284;AF284435;AJ243874;AL008710;AL031368;AL031466;AL031575;AL031803;AL049178;AMYH01022178;AMYH01022179;AMYH01022180;AMYH01022181;AMYH01022182;AMYH01022183;AMYH01022184;AMYH01022185;AMYH01022186;AMYH01022187;AMYH01022188;BC126345;BC126347;CH471074;DN994486;NG_008292;NM_014271 AAF59411;AAG21369;AAI11919;AAI26346;AAI26348;ADR83342;BAC80450;BAC80451;BAC80452;BAC80453;BAC80454;BAC80455;BAC80456;BAC80457;BAC80458;BAC80459;BAC80460;BAC80461;BAC80462;BAC80463;BAC80464;BAC80465;BAC80466;BAC80467;BAC80468;BAC80469;BAC81119;CAB56046;EAW99046;NP_055086;Q9NZN1 Hs.658912 1336584;1341963;1647640;1663533;1694822;1701714;1702284;1702542;1703450;1706506;1708828;1710684;1712040;1713405;1723179;1723949;1731219;1747939;1747959;1761115;1773168;1796090;1851915;1853810;2120867;2141238;2151998;2162822;2171468;2175683;2183861;2190493;5021988;7184771;7185693 A008N45;AFM066XF3;AFMA082XB9;BAC_374-A19;DXS1086;DXS1088;DXS1147;DXS1218;DXS7150;DXS7261;DXS7508;DXS7534;DXS7549;DXS9896;G43644;G66845;G66898;IL1RAPL1;IL1RAPL1_153;L29671;RH118463;RH118707;RH118717;RH119559;RH46137;SHGC-145120;SHGC-37351;SHGC-79613;SHGC-81082;SHGC-81223;SHGC-82540;WI-13533;WI-16438 IL1R8;IL1RAPL;MRX10;MRX21;MRX34;OPHN4;TIGIRR-2 IL-1-RAPL-1;IL-1RAPL-1;IL1RAPL-1;OTTHUMP00000023097;X-linked interleukin-1 receptor accessory protein-like 1;interleukin 1 receptor-8;interleukin-1 receptor accessory protein-like 1;mental retardation, X-linked 10;oligophrenin-4;three immunoglobulin domain-containing IL-1 receptor-related 2 APPROVED protein-coding 5996 02193 300143;300206 REVIEWED 735430 IL1R1 interleukin 1 receptor, type I The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein is a receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008] 2 2 q12 102136834 102162766 + 102770402 102796334 + 1580863;2311107;2311068;1598407;2311106;5037239;5037237;5037238;5130945;5490209;6480464;6484113;6892703;6907045;7207035;7207036 17901159;7835294;11197691;11311987;16797208;18637763;20967881;20081871;8911996;16456668;17500042 9120302;16477012;9062193;9062194;12721283;16286467;2530587;18576303;18484169;18322311;18321953;18052726;17889143;17703412;17688691;17627763;17622942;17607501;17584583;17517439;17480058;17477815;17413037;17324958;17257312;17083033;16938461;16937503;16911713;16573560;16564702;16354686;16323614;16305343;16301860;16258158;16100774;15919456;15866876;15797878;15789892;15723707;15653174;15489334;15481335;15472211;15388348;15375600;15361128;15300624;15190266;15188516;15170937;14872281;14758530;14735144;14734209;14680589;14644395;14563376;14557872;12925853;12890860;12804791;12752101;12729621;12659850;12595908;12558814;12477932;12477576;12472674;12425801;12424621;12412204;12363051;12240899;12212456;12164325;12145738;12138282;12136897;12133437;12095061;12082592;12077269;12038885;12028539;11956022;11851889;11849463;11846196;11838837;11820460;11790645;11762793;11752505;11742191;11665666;1833184;10383454;19431193;19408823;19339270;19332120;19290009;19258923;19232518;19211154;19180518;19142372;19141860;19117745;19076825;19064572;19019335;18996842;18818748;18810365;18773331;18763028;18632425;18624935;11641511;11578018;11527622;11508575;11506478;11427627;11390630;11380940;11380474;11278614;11233912;11220627;11127457;11083263;11040178;10903327;10854325;10373529;10191101;9374458;9371760;9360994;7818827;2946959;2532321;2521881;1672292;7878046;22267087;12242293;22904187;17113392;19428986;19453261;19470040;19488045;19527514;19573080;19594368;19683555;19684156;19702713;19716405;19729601;19738620;19773279;19773451;19801678;19819943;19822442;19844779;19860911;19940113;19948975;19950169;19965648;20066156;20120526;20213229;20237496;20349753;20353565;20400062;20452482;20503287;20140262;20568250;20800603;20811626;20819778;20956022;20959405;21086908;20523065;19913121;20602615;20603050;20628086;20628624;20673868;20709104;20799037;20806065;20816195;20818961;8327496;21281963;21435443;21083841;22435759;22594576;23375040;21787753;21998454;21858107;22031183;22173128;22285486;22385245;22561531;22426547;12609980;22515947;22574108;22262840;22417897;12496252;16024789;8599092;9575168;23022958;23128233;23407395;20054003;20064081;22509941 3554 B8ZZ73;B8ZZW4;B9A040;C9J3W8;C9J686;C9JQ36;C9JW84;C9JWB2;F8WF92;H7BZM5;P14778 ABBA01073900;AC007271;AF531102;AK026803;AK314433;AMYH01010820;BC067506;BC067507;BC067508;BC075062;BC075063;CH471127;JA738563;M27492;NM_000877;X16896 AAA59137;AAH67506;AAH67507;AAH67508;AAH75062;AAH75063;AAM88423;AAX81988;CAA34773;CCF76934;EAX01799;NP_000868;P14778 Hs.701982 1339626;1778631;1778871;2121841;2152276;5037552 D19S876;D2S1426;D8S2279;RH69111;SHGC-35324;SHGC-36622 CD121A;D2S1473;IL-1R-alpha;IL1R;IL1RA;P80 CD121 antigen-like family member A;IL-1R-1;IL-1RT-1;IL-1RT1;OTTHUMP00000161344;OTTHUMP00000203887;OTTHUMP00000203888;OTTHUMP00000203889;OTTHUMP00000203891;OTTHUMP00000207977;antigen CD121a;interleukin 1 receptor alpha, type I;interleukin receptor 1;interleukin-1 receptor alpha;interleukin-1 receptor type 1;interleukin-1 receptor type I APPROVED protein-coding ENSG00000115594 5993 00994 147810 REVIEWED 1349606 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. [provided by RefSeq, Jul 2008] X X X q22 104285598 105486376 + 103697652 104898478 + 103810996 105011822 + 1580863;6480464 10757639;17265504;16596202;12477932;11587848;11031108;10882729;7959766;20237496;21384559 26280 B7Z4E1;Q9NP60 ABBA01018899;ABBA01018900;ABBA01018901;ABBA01018902;ABBA01018903;ABBA01018904;ABBA01018905;ABBA01018906;ABBA01018907;ABBA01018908;ABBA01018909;ABBA01018910;ABBA01018911;ABBA01018912;ABBA01018913;ABBA01018914;ABBA01018915;ABBA01018916;ABBA01018917;ABBA01018918;ABBA01018919;ABBA01018920;ABBA01018921;ABBA01018922;ABBA01018923;ABBA01018924;ABBA01018925;ABBA01018926;ABBA01018927;ABBA01018928;ABBA01018929;ABBA01018930;ABBA01018931;ABBA01018932;ABBA01018933;ABBA01018934;ABBA01018935;ABBA01018936;ABBA01018937;ABBA01018938;ABBA01018939;ABBA01018940;ABBA01018941;ABBA01018942;ABBA01018943;ABBA01018944;ABBA01018945;ABBA01018946;ABBA01018947;ABBA01018948;ABBA01018949;ABBA01018950;ABBA01018951;ABBA01018952;ABBA01018953;ABBA01018954;ABBA01018955;ABBA01018956;ABBA01018957;ABBA01018958;ABBA01018959;ABBA01018960;ABBA01018961;ABBA01018962;ABBA01018963;ABBA01018964;ABBA01018965;ABBA01018966;ABBA01018967;ABBA01018968;ABBA01018969;ABBA01018970;ABBA01018971;ABBA01018972;ABBA01018973;ABBA01018974;ABBA01018975;ABBA01018976;ABBA01018977;ABBA01018978;ABBA01018979;ABBA01018980;ABBA01018981;ABBA01018982;ABBA01018983;ABBA01018984;ABBA01018985;ABBA01018986;ABBA01018987;ABBA01018988;ABBA01018989;ABBA01018990;ABBA01018991;ABBA01018992;ABBA01018993;ABBA01018994;ABBA01018995;ABBA01018996;ABBA01018997;ABBA01018998;ABBA01018999;ABBA01019000;ABBA01019001;ABBA01019002;ABBA01019003;ABBA01019004;ABBA01019005;ABBA01019006;ABBA01019007;ABBA01019008;ABBA01019009;ABBA01019010;ABBA01019011;ABBA01019012;ABBA01019013;ABBA01019014;ABBA01019015;ABBA01019016;ABBA01019017;AF181285;AF212016;AF284436;AJ272208;AJ290436;AK290196;AL008642;AL021812;AL022168;AL050401;AL121866;AL133272;AL133276;AL133381;AL391070;AL391071;AL442225;AL512445;AMYH01022809;AMYH01022810;AMYH01022811;AMYH01022812;AMYH01022813;AMYH01022814;AMYH01022815;BC104784;BC104786;CH471120;NG_012566;NM_017416;Z68328;Z68330;Z68872;Z68908;Z69367;Z69721;Z69724;Z70040;Z70051;Z70224;Z70225;Z70232;Z71182;Z73967;Z74477;Z74619;Z75745;Z75747;Z75957;Z80774;Z81144;Z95333;Z99706 AAF59412;AAF61307;AAG21370;AAI04785;AAI04787;BAF82885;CAB86868;CAB89867;EAX02752;NP_059112;Q9NP60 Hs.675519 1340341;1340505;1658153;1664287;1665277;1671233;1672957;1676346;1694318;1694328;1700204;1701886;1702104;1702620;1723015;1725183;1781222;1781272;1789458;1796092;1850890;2118123;2127523;2129307;2145739;2154994;2158470;2161293;2172496;2175391;5112472;7184817 AF020135;AFMA071TG1;AL008888;DXS1348;DXS1427;DXS1498;DXS17;DXS7523;DXS7621;DXS7627;DXS7784;DXS7799;DXS8075;DXS8112;DXS8182;DXS8236;DXS94;G60457;G65773;IL1RAPL2_1619;L41733;L77280;L77284;L77748;RH103718;RH118890;RH63727;RH66133;WI-15651;stSG49025;stSG81882 IL-1R9;IL1R9;IL1RAPL-2;TIGIRR-1 IL-1 receptor accessory protein-like 2;IL-1-RAPL-2;IL-1R-9;IL-1RAPL-2;IL1RAPL-2-related protein;OTTHUMP00000023775;X-linked interleukin-1 receptor accessory protein-like 2;interleukin 1 receptor 9;interleukin-1 receptor 9;three immunoglobulin domain-containing IL-1 receptor-related 1 APPROVED protein-coding ENSG00000189108 5997 02231 300277 REVIEWED 1353187 IL1RL2 interleukin 1 receptor-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008] 2 2 2 q12 97004649 97057020 + 102169865 102222243 + 102803433 102855811 + 729063;1580863;6480464 8898719 8332913;1833184;19180518;19074885;16546408;12477932;11466363;10882729;10191101;9325300;19684156;19773279;20190752;20237496;20353565;20800603;20959797;21860022;22315422;22144259;23128233 8808 A4FU63;C9K0I8;Q9HB29 ABBA01073899;ABBA01073900;AC007248;AC007271;AF284434;AK315334;AMYH01010820;BC107064;CH471127;DQ131903;NM_003854;U49065 AAB53237;AAG21368;AAI07065;AAX81989;AAY15046;AAZ38712;BAG37734;EAX01798;NP_003845;Q9HB29 Hs.659863 1713737;2131060 RH120754;STS-U49065 IL-1Rrp2;IL-36R;IL1R-rp2;IL1RRP2 IL-1 receptor-related protein 2;IL-1Rrp2;IL-36 receptor;OTTHUMP00000161336;interleukin-1 receptor-like 2;interleukin-1 receptor-related protein 2 APPROVED protein-coding ENSG00000115598 5999 05150 604512 REVIEWED 732294 IL1RAP interleukin 1 receptor accessory protein Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009] 3 3 q28 191714585 191851995 + 190231840 190374986 + 1580863;5490209;6480464;6907045 20081871 12721283;9065432;7775431;19527514;19481478;19240061;19019335;18818748;18385676;18299313;18156980;17949817;17889143;17507369;16519819;15849357;15528363;15489334;15231748;14734551;14702039;12781872;12659850;12530978;12483539;12477932;12393699;11880380;11416133;11279295;10854325;10799889;10373529;9923604;9862719;9820540;9479509;9371760;11544529;8626725;16341674;16344560;20237496;20379614;8889548;20966902;17207965;20140262;20805474;8837778;19913121;20628086;20730440;21272866;22251538;21373837;21139048;21958553;22723552;22778412;22904187 3556 A8K6K4;C9J1D9;C9J9W1;C9JT28;H7C3W4;Q9NPH3 AB006537;ABBA01058325;ABBA01058326;ABBA01058327;ABBA01058328;AC008249;AC108747;AF016261;AF029213;AF167340;AF167342;AF167343;AF487335;AF538730;AF538731;AF538732;AF538733;AF538734;AK095107;AK291669;AMYH01013757;AMYH01013758;BC016141;BC053621;BG032519;BM194193;BM760155;BM973472;CH471052;DA024801;DN990628;EF591790;FJ998418;NG_029105;NM_001167928;NM_001167929;NM_001167930;NM_001167931;NM_002182;NM_134470 AAB84059;AAC39609;AAF71687;AAF71688;AAF71689;AAH53621;AAO49451;AAQ01755;AAQ01756;AAQ01757;AAQ01758;AAQ01759;ABU90811;ACR82488;ADQ32601;BAA25421;BAC04487;BAF84358;EAW78100;EAW78101;EAW78102;EAW78103;NP_001161400;NP_001161401;NP_001161402;NP_001161403;NP_002173;NP_608273;Q9NPH3 Hs.478673 1335248;1335696;1654044;1717527;1727951;1738901;1766315;2106509;2165910;5095002;7185173 D3S1288;D3S2747;D3S3177;D3S4254;G63395;IL1RAP;IL1RAP_4108;RH122067;SHGC-149663;SHGC-77653 C3orf13;FLJ37788;IL-1RAcP;IL1R3 IL-1 receptor accessory protein;IL-1R-3;IL-1R3;OTTHUMP00000209485;OTTHUMP00000209486;OTTHUMP00000209487;OTTHUMP00000209488;OTTHUMP00000209489;OTTHUMP00000209490;OTTHUMP00000209491;OTTHUMP00000209492;OTTHUMP00000209493;interleukin-1 receptor 3;interleukin-1 receptor accessory protein;interleukin-1 receptor accessory protein beta APPROVED protein-coding ENSG00000196083 5995 04021 602626 REVIEWED 736158 IL1RL1 interleukin 1 receptor-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 2 2 q12 102294394 102334929 + 102927962 102968497 + 1580863;5144224;5144236;5144228;5144227;5144237;5144239;5144241;5144245;5144222;5144243;5144242;5144223;5144235;5144238;5144240;5144244;6480464 20804518;14555548;19671251;19927353;11463601;21281963;20602249;17407196;21352201;19198610;19852851;20959556;17623648;11283151;21150878;19179489 12665801;16286016;1482686;18029348;19254249;19247692;19180518;19169993;19074885;19017513;18802081;18794051;18774397;18375488;18311140;18226917;16426569;16381901;16118232;15815621;15489336;15489334;15481335;15340161;15063762;15004556;14991091;14759258;19889931;22105364;22841163;12578875;12492487;12477932;12368275;12355452;11531955;11478810;11359817;11076863;10936050;10527832;10491084;10191101;9811530;9794420;9618516;9207179;9058198;8621446;21190867;20363761;19520469;19860791;19898481;19910030;20190752;20237496;20331378;20353565;20435187;20503266;21515743;20800603;20860503;20625511;18827826;18941187;18995177;19756962;20385815;20816195;21102463;21178018;21633527;21682736;22819319;21663467;22035779;22104207;21871564;22233535;21804549;22203232;22494834;22542450;23300625;23028483;23042114;23128233;23220272;21832049;22824976;20406635;21897866;22865859 9173 B4E0I3;C9JSY6;E9PC41;Q01638 AB012701;AB022176;AB029084;ABBA01073899;AC007248;AK291578;AK303389;AMYH01010820;BC012580;BC030975;CH471127;D12763;D12764;EU181431;EU181432;NM_003856;NM_016232 AAH30975;AAY15047;ABW33704;ABW33705;BAA02233;BAA20539;BAA82405;BAA85894;BAF84267;BAG64445;CAL37814;EAX01795;NP_003847;NP_057316;Q01638 Hs.66 1669060;1684072;1855963;2167778 D2S2552;G09503;RH68200;RH94265 DER4;FIT-1;IL33R;MGC32623;ST2;ST2L;ST2V;T1 OTTHUMP00000161342;OTTHUMP00000161343;OTTHUMP00000202992;growth stimulation-expressed;homolog of mouse growth stimulation-expressed;interleukin 1 receptor-related protein;interleukin-1 receptor-like 1 APPROVED protein-coding ENSG00000115602 5998 03123 601203 REVIEWED 1353403 IL20 interleukin 20 The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008] 1 1 q32 205105777 205109191 + 207039154 207042568 + 1580863;5147391;5147393;5147394;5147395;6480464;6907045 21109726;20722035;18639518;16947773 11470428;19342680;19258923;19087313;18771958;18758357;18479293;18281438;18061474;17703412;17465720;17263806;17255956;17083366;16908179;16778121;16709143;16645593;16511554;15950941;15815689;15489334;15340161;14675174;14580208;12975309;12855566;12667095;12477932;12351624;12023331;11163236;15857508;19430480;19481430;19802007;19830738;20061404;20237496;20503287;20976276;22962576;23183096;21565488;23000500;22232181;22948742;23271730;23128233 50604 Q2THG6;Q9NYY1 ABBA01010194;AC098935;AF224266;AF402002;AMYH01001679;AY358320;AY876922;BC069311;BC069364;BC069398;BC069425;BC069449;BC069487;BC069523;BC069559;BC074948;BC074949;BC117386;BC117390;CH471100;NM_018724 AAF36679;AAH69311;AAH69364;AAH69398;AAH69425;AAH69449;AAH69487;AAH69523;AAH69559;AAH74948;AAH74949;AAI17387;AAI17391;AAK84423;AAQ88686;AAW78348;ADR83490;EAW93520;EAW93521;NP_061194;Q9NYY1 Hs.272373 IL-20;IL10D;MGC96907;ZCYTO10 OTTHUMP00000034617;OTTHUMP00000034618;cytokine Zcyto10;four alpha helix cytokine;interleukin-20 APPROVED protein-coding 6002 05728 605619 REVIEWED 1316471 IL20RA interleukin 20 receptor, alpha This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 q23.3 137362801 137407991 - 137321108 137366298 - 1580863;5037232;6480464;6907045 18246602 18480827;15340161;15178681;14764663;14702039;14580208;14574404;12975309;12477932;12351624;11706020;11564763;11163236;10875937;8889548;19666410;19926456;20237496;20800603;19913121;20628086;22232181 53832 F5H675;Q96SH7;Q9UHF4 ABBA01025822;AF184971;AJ420490;AK098312;AK297121;AK307072;AK315293;AL135902;AMYH01016700;AY358883;BC113574;BC113602;BM713319;CH471051;DN998331;HY009306;NM_001278722;NM_001278723;NM_001278724;NM_014432 AAF01320;AAI13575;AAI13603;AAQ89242;ADR83206;BAG37699;BAG59627;EAW47936;EAW47937;EAW47938;NP_001265651;NP_001265652;NP_001265653;NP_055247;Q9UHF4 Hs.445868 1796096;2141407;2185859 A004T21;IL20RA_1171;RH46647 CRF2-8;FLJ40993;IL-20R-alpha;IL-20R1;IL-20RA;ZCYTOR7 CRF2-8;IL-20 receptor subunit alpha;IL-20R-alpha;IL-20RA;OTTHUMP00000017280;class II cytokine receptor ZCYTOR7;cytokine receptor class-II member 8;cytokine receptor family 2 member 8;interleukin-20 receptor I;interleukin-20 receptor subunit alpha APPROVED protein-coding ENSG00000016402 6003 05729 605620 REVIEWED 6893023 IL21-AS1 IL21 antisense RNA 1 q27 12477932 100996941 BC045668 Hs.439487 miscrna 40299 730858 IL2 interleukin 2 The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008] 4 4 q26-q27 123592075 123597100 - 123372625 123377650 - 1600060;2313574;4889118;5144220;5147902;5147907;5147871;5147910;5147873;5147887;5147908;5147913;5147904;5147905;5147911;5131471;5147870;5147906;5147912;5147915;6480464;6484113;6907045;6480432 2342538;17670937;20926789;21257923;21640045;21574159;21812652;21834929;21730256;21714072;21570674;20860016;21606463;21603856;21734238;21442011;21859687;21603642;21509781;20213480;21767135 18418394;17142786;21829393;22337875;22461703;22036096;22467658;10072077;3925347;8476561;10929056;9184696;6608729;19638314;19594368;19573080;19543959;19527514;19523143;19522766;19505916;19497711;19495883;19494280;19471255;19470040;19414780;19408823;19404967;19364969;19339796;19332120;19302705;19284443;19279357;19258923;19250279;19234188;19201773;19200845;19141488;19126646;19117745;19105930;19099187;19073967;19058987;19058298;19019335;18972297;18942754;18932275;18818748;18805825;18794598;18780949;18780166;18776133;18773331;18769450;18768844;18761558;18755820;18714042;18676770;18676680;18663124;18650128;18633131;18632425;18628433;18624934;18614637;18593762;18576303;18574615;18566561;18543227;18522869;18496418;18481948;18430737;18423386;18348982;18331736;18324310;18311140;18309287;18299274;18275276;18271063;18239807;18209044;18207244;18192685;18174230;18165865;18097023;18077789;18073500;18023521;18021981;18021367;17994425;17985312;17981806;17981641;17956522;17949552;17913045;17900510;17889143;17761346;17728221;17714919;17703412;17651815;17627763;17571248;17558408;17541281;17537734;17460561;17457216;17444587;17439892;17396252;17355643;17337059;17336597;17327408;17257312;17237447;17222831;17215524;17203290;17175263;17152005;22554193;22585398;22504653;21167738;21282039;17115417;17110377;17097050;17077180;17052299;17002904;16984280;16966412;16961803;16938461;16920920;16889932;16885196;16864906;16864905;16824159;16805135;16783532;16690518;16678358;16621991;16606671;16584887;16573560;16567828;16518704;16478922;16477002;16389181;16361891;16333313;16323127;16293754;16293250;16169852;16164695;16148026;16132828;16125242;16100774;16091861;16060678;15976176;15964333;15951664;15910743;15904474;15895884;15841456;15841182;15814282;15749888;15733644;15728489;15710467;15686714;15676209;15563472;15562014;15539078;15514847;15489334;15458467;15361128;15353479;15347678;15339934;15271977;15259063;15247007;15238074;15191519;15187164;15170937;15152368;11981437;11940709;11914641;11911478;11841848;11826762;11743717;11714800;11689614;11544437;11525806;11385624;11354638;11315919;11261789;11254713;11114167;11093171;11035066;10662798;10570282;10207088;10201969;9811677;9517986;9516115;9334723;9311917;9209269;9187267;9065434;9045614;8824916;8757311;8402910;8207793;8183373;8118889;8095514;8049354;7999066;7983746;7963560;7734194;7722480;7695626;7591871;7529123;6403867;6333684;6330695;6324170;6321163;6318318;6312994;6306584;6201860;3877307;3500515;3491296;3265909;3264184;3262520;3260003;2793860;2109157;1993646;1631562;1510960;1396583;1394441;1316918;9534962;1832084;16393999;12605694;7697734;1905933;8706326;2842093;7957556;17177332;11350667;9007200;2315327;1888898;1346976;2552026;9226175;10985305;10618429;8769094;7589092;9712080;9045910;7642615;15120188;15104679;15100259;15057902;15005726;15001467;14975604;14722108;14715519;14707112;14688528;14687725;14680494;14675394;14607929;14607923;14566095;14522096;14499500;12960316;12944981;12884288;12864971;12851716;12826231;12826155;12816983;12808095;12759392;12727483;12727482;12717025;12687247;12646760;12633940;12610796;12604780;12582206;12557940;12542496;12536241;12504009;12486027;12480696;12477932;12464620;12456594;12409183;12393431;12392859;12358847;12354383;12354082;12200381;12193716;12176041;12171778;12162871;12144536;12121273;12105273;12089714;12072494;12055219;7523014;2052609;1527859;10196292;15638726;8765022;8598486;8102828;16354571;10393966;11418623;8626603;2303462;15175153;20542085;20225066;20562654;20193755;15654770;17715020;18095604;19170196;19351491;19406689;19427348;19430480;19450160;19453859;19502081;19625176;19648290;19675167;19683555;19692168;19693089;19693092;19707465;19710466;19718824;19733878;19773279;19773451;19787624;19832038;19860911;19889958;19892918;19925666;19938203;19951419;19965651;20027321;20049409;20060205;20072139;20082482;20100932;20112382;20129796;20145925;20177758;20179739;20182632;20184734;20190192;20190752;20203524;20213229;20219786;20221423;20222161;20233754;20331378;20378664;20418110;20424473;20438365;20444755;20452482;20453000;20484443;20498205;20503287;8262055;23217119;23278180;20227890;20568250;20716621;20802378;20811626;20839488;20942272;20960273;20962850;21035858;21061265;21072155;21086908;20557936;20236616;16482511;19088061;20814620;20544350;20671116;20679529;20870937;20883322;8493579;21112091;21198755;20453842;20465575;21037099;19913121;20485444;20594918;20595916;20596022;20599261;20603050;20626741;20628086;20673868;17207965;20553587;21383498;21482826;21292764;19375249;21297633;21317396;21425124;21685912;20926141;10825200;22905203;22891215;22932225;23104097;23272100;21179414;21423578;21532597;21375519;21531896;21269573;21425313;21258967;21288140;21642596;23349093;23414538;20561440;22313865;22736314;23019580;21620040;21304239;21839273;21978000;20880293;21984699;21876034;21889323;21819478;21890374;21905023;21905024;21976679;22174157;22246628;22609631;23009887;23058031;22474330;22077623;23172754;21688385;21925225;21711552;22242968;22281835;22623329;22634617;21372257;22472080;22524835;21648020;22040441;22062588;22112982;22111667;22732586;22910795;23129528;23192659;23185455;23380740;23418630;23128233;23319613;23265966;23676143;22797138;22984628;21162873;22645657;17332243;17604883;18539368;18570590;18670216;18991615;19013323;19135418;19275586;20012528;20535218;21085635;21176845;21394196;22479496;22819245;1830926;22791129;23103669 3558 P60568;Q0GK43 A14844;AB451325;AB451454;ABBA01044735;AC022489;AF031845;AF228636;AF359939;AF532913;AMYH01014492;AY283686;AY523040;BC066254;BC066255;BC066256;BC066257;BC070338;CH471056;CQ847559;DQ231169;DQ861285;GM863577;HC025835;HI574002;J00264;K02056;M13879;M22005;M33199;NG_016779;NM_000586;S77834;S77835;S82692;U25676;V00564;X00695;X01586;X61155 AAA59139;AAA59140;AAA59141;AAA70092;AAA98792;AAB46883;AAB86861;AAD14263;AAD14264;AAD48509;AAG53575;AAH66254;AAH66255;AAH66256;AAH66257;AAH70338;AAK26665;AAM97916;AAP35033;AAS17753;ABB20900;ABI20697;ADQ32007;BAG70139;BAG70268;CAA01199;CAA23827;CAA25292;CAA25742;CAH18032;CAT16485;CBH19848;CBX47490;EAX05227;NP_000577;P60568 Hs.89679 1682237;1714155;1775851;1792174;2113772;2171806;5016588;5095293;5117861 D4S3227;GDB:625818;GDB:625821;IL2;IL2_s19;PMC138391P1;RH119686;SHGC-59515;SHGC4-74 IL-2;TCGF;lymphokine OTTHUMP00000164090;T cell growth factor;aldesleukin;interleukin-2;involved in regulation of T-cell clonal expansion APPROVED protein-coding 6001 00979 147680 REVIEWED 6766418 IL21R-AS1 IL21R antisense RNA 1 16 p12.2 27458990 27464714 - 14702039 283888 ABBA01017156;AC002303;AK093371;AMYH01007404;NR_037158 Hs.660935 1848019;2180615;5022578;5037552 D1S1423;D8S2279;RH47993;SHGC-60659 APPROVED miscrna ENSG00000259954 27551 VALIDATED 1344540 IL1RN interleukin 1 receptor antagonist The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 q14.2 113591941 113608064 + 113875470 113891593 + 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3557 P18510;Q9UP87 A49726;A50144;ABBA01074245;AC024704;AF043143;AF057168;AJ005835;AK290898;AK290926;AMYH01010967;AY196903;BC009745;BC068441;BI766516;BN000002;CH471217;HI656437;M55646;M63099;NG_021240;NM_000577;NM_173841;NM_173842;NM_173843;U65590;X52015;X53296;X64532;X84348 AAA59138;AAB41943;AAB92268;AAB92269;AAB92270;AAC13499;AAC39672;AAH09745;AAN87150;AAX93278;ABM83492;ABM86707;BAF83587;BAF83615;CAA03191;CAA03210;CAA06730;CAA36262;CAA37386;CAA45832;CAA59087;CAD29879;CBY45189;EAW73621;EAW73622;EAW73623;EAW73624;EAW73625;NP_000568;NP_776213;NP_776214;NP_776215;P18510 Hs.81134 1657803;1741741;1742769;2106511;2134331;2153997;2154913;2172700 D2S2718;GDB:182560;GDB:204180;IL1RN_3322;RH11709;RH17495;RH70911;WI-13878 DIRA;ICIL-1RA;IL-1RN;IL-1ra;IL-1ra3;IL1F3;IL1RA;IRAP;MGC10430;MVCD4 IL1 inhibitor;IL1RN (IL1F3);OTTHUMP00000162022;OTTHUMP00000162023;OTTHUMP00000162024;OTTHUMP00000203730;OTTHUMP00000203731;interleukin-1 receptor antagonist protein;intracellular IL-1 receptor antagonist type II;intracellular interleukin-1 receptor antagonist (icIL-1ra);type II interleukin-1 receptor antagonist APPROVED protein-coding ENSG00000136689 6000 00978 137215;147679;612628;612852 REVIEWED 1349896 IL20RB interleukin 20 receptor beta IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009] 3 3 3 q22.3 135102983 135156200 + 138159397 138212610 + 136676707 136729927 + 5037232;6480464;6907045 18246602 18480827;16703417;15489334;15340161;14580208;12975309;12477932;12351624;11564763;11181995;11163236;17207965;19043545;19666410;22232181;22802649 53833 F8WAV8;F8WC67;H7C5S5;Q6UXL0;Q8IYY5 ABBA01059106;ABBA01059107;AC011597;AK296832;AK316084;AMYH01013522;AMYH01013523;AMYH01013524;AY358305;BC027449;BC033292;BC063696;CH471052;CS109193;CS110198;CS253333;CS465983;HC305538;HI651134;NM_144717 AAH33292;AAH63696;AAQ88672;ADQ31941;ADZ15701;BAG59402;BAH14455;CAJ09895;CAJ09909;CAJ65781;CAM31821;CBJ18627;CBX89254;EAW79099;EAW79100;EAW79101;EAW79102;EAW79103;EAW79104;NP_653318;Q6UXL0 Hs.61232 1699566;1778818 RH103384;STS-AA024977 DIRS1;FNDC6;IL-20R2;MGC34923 IL-20 receptor subunit beta;IL-20R-beta;IL-20RB;OTTHUMP00000216468;fibronectin type III domain containing 6;interleukin-20 receptor II;interleukin-20 receptor subunit beta APPROVED protein-coding ENSG00000174564 6004 14594 605621 VALIDATED 1316553 IL21 interleukin 21 This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 4 4 q26-q27 123739272 123761662 - 123533783 123542212 - 1580863;5147396;5024938;5147397;5147399;6480464;6907045 18802358;20618701;17982108;18997868 21425124;12504082;14635054;15207081;15765404;11081504;19592644;19592276;19523143;19471255;19404967;19302705;19258923;19234181;19233474;19201773;19073967;19026702;18981102;18947877;18829491;18805825;18788946;18773086;18684866;18641314;18593762;18482208;18469800;18418394;18311140;18299268;18296629;18222514;18209077;18182577;18056361;17988587;17947662;17938255;17921346;17888893;17785794;17720724;17713571;17712836;17703412;17698559;17673207;17672918;17624663;17565991;17509926;17462506;17442980;17241869;17178921;17142735;17130531;17015709;17015683;16551679;16424177;16406655;16339522;16138102;16081794;16002671;15919378;15684054;15494482;15489334;15178704;15147560;15100251;12893770;12759422;12477932;12244150;11418623;11267886;8626603;17558408;22554193;21116820;19998455;21281812;20594126;20423656;17207965;20186935;16482511;19997967;20079789;20519650;20453842;20553587;20596022;20848568;20881011;20962850;21048031;15546387;19447148;19561536;19608866;19617351;19648290;19675172;19684581;19693089;19762555;19774453;19797296;19949086;20048285;20049410;20072139;20103765;20112382;20190192;20190752;20203524;20219786;20233754;20237496;20444755;20498205;20503287;21064084;20571486;22038405;22753386;21227406;21357266;21055341;21297633;21430229;21441456;21375519;21531891;21959034;22030011;22032620;21685912;20871161;21269573;23172754;23607532;22748465;22840497;22705151;21181220;21524651;21724243;21736561;21129248;21768062;22235133;18259184;19022821;20817119;20848219;20888735;21175418;21304239;21391901;21692955;21987656;22009762;22039266;22122790;21688385;21938013;23236436;23396946;22077623;21945025;21968544;22279576;22763176;22976953;22238455;22250083;21648020;22057994;22532637;22649468;22450323;22261234;23312859;23278180;23479229;23325890;23128233;23676143;23064011;23280509;22752563;23137515;23288348;22948743;23480181;22848667;22430249;22491065;23407551 59067 Q9HBE4 ABBA01044738;ABBA01044739;AC053545;AF254069;AMYH01014492;AY763518;BC066258;BC066259;BC066260;BC066261;BC066262;BC069124;CD559460;CD559613;CH471056;CS080568;CS237090;CS450761;CS582814;DQ645417;FB677173;GM619752;HB976773;HC196689;HC203173;HC203434;HC686913;JA104585;NG_031966;NM_001207006;NM_021803 AAG29348;AAH66258;AAH66259;AAH66260;AAH66261;AAH66262;AAH69124;AAU88182;ABG36529;ADQ31944;CAI94500;CAJ47524;CAL81203;CAN87399;CAS03522;CAV33288;CBE74752;CBI70418;CBI85469;CBI85472;CBL93962;CCA63962;EAX05226;NP_001193935;NP_068575;Q9HBE4 Hs.567559 2163888;2167818 D4S1279;G33978 IL-21;Za11 OTTHUMP00000164088;interleukin-21;interleukin-21 isoform APPROVED protein-coding ENSG00000138684 6005 05650 605384 REVIEWED 1352751 IL22RA1 interleukin 22 receptor, alpha 1 The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008] 1 1 p36.11 24318848 24342198 - 24446261 24469775 - 5147411;6480464;6907045 19393422 19240061;19285080;18675824;18675809;18599299;18376313;17906500;12477932;11035029;10875937;8125298;20671117;19632985;19666410;19731362;20237496;20971950;21988832;22898922;21690049 58985 Q8N6P7 ABBA01059898;ABBA01059899;AF286095;AK226001;AK292204;AK304454;AK308522;AK313971;AL590683;AL591178;AMYH01000369;BC014096;BC029273;CH471134;NM_021258 AAG22073;AAH29273;ADZ15430;BAF84893;BAG36686;BAG65271;EAW95111;NP_067081;Q8N6P7 Hs.110915 1796100 IL22R_154 CRF2-9;IL22R;IL22R1 IL-22 receptor subunit alpha-1;IL-22R-alpha-1;IL-22RA1;OTTHUMP00000003073;cytokine receptor class-II member 9;cytokine receptor family 2 member 9;interleukin-22 receptor subunit alpha-1;zcytoR11 APPROVED protein-coding ENSG00000142677 13700 16108 605457 REVIEWED 1312687 IL21R interleukin 21 receptor The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 16 16 p11 27321224 27369616 + 27413483 27463363 + 1600111;1580863;6480464;6892930;6892934;6892937;6892941;6892928;6892933;6892964;6892695;6892963;6892924;6892927;6892931;6892932;6892939;6482789;6892935;6892938;6892940;6892925;6892926;6892942;6892962;6907045;7240710 11821949;19208913;19478140;19164519;18254984;21593413;19644854;19342640;20072140;21281812;22530560;21596854;20424514;20057909;18546146;22021194;19075398;18353312;22238461;21724243;22147555 11081504;19230867;17624663;17462506;17032244;17015683;16867043;16391014;16260592;15751077;15489334;15340161;15146416;12975309;12700598;12477932;11418623;11016959;7566098;16344560;19322899;19617351;19851296;19874204;20059963;20193734;20198315;20237496;21048031;21531891;22032620;21524651;22235133 50615 Q9HBE5 AA354979;ABBA01017156;AC002303;AC004525;AF254067;AF269133;AK292663;AK312825;AMYH01007404;AW576566;AY064474;AY358826;BC004348;BC007946;BQ215949;BX401767;CH471145;CS080576;CS450755;DB115361;FB702445;HB976766;HC005802;HC196703;HC202963;HC203224;HC686703;HI574132;HI574134;HI574136;NG_012222;NM_021798;NM_181078;NM_181079 AAG23419;AAG29346;AAH04348;AAH07946;AAL39168;AAQ89185;ABM87726;ABW03862;BAF85352;BAG35682;CAI94502;CAL81201;CAS03334;CBE74748;CBG76750;CBI70421;CBI85467;CBI85470;CBL93960;CBX47555;CBX47556;CBX47557;EAW55746;EAW55747;EAW55748;EAW55749;NP_068570;NP_851564;NP_851565;Q9HBE5 Hs.210546 1796098;1848019;2180615 IL21R_763;RH47993;SHGC-60659 CD360;MGC10967;NILR IL-21 receptor;IL-21R;OTTHUMP00000162453;interleukin-21 receptor;novel interleukin receptor APPROVED protein-coding 6006 05649 147050;605383;615207 REVIEWED 1322028 IL22RA2 interleukin 22 receptor, alpha 2 This gene encodes a member of the class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] 6 6 q23.3 137506650 137536478 - 137464957 137494785 - 1580863;6480464;6907045 11390454;11390453;19285080;19240061;18675824;15340161;15201862;14574404;12975309;12700595;11607789;11481447;21041731;12477932;19193995;19393422;19926456;20237496;21833088 116379 Q969J5 ABBA01025818;ABBA01025819;AI824338;AJ297262;AJ313161;AJ313162;AL050337;AMYH01016700;AY040566;AY040567;AY040568;AY044429;AY358111;AY358737;AY779023;BC125167;BC125168;CH471051;CQ889886;CQ889948;CS425147;CS719540;HC888917;NM_052962;NM_181309;NM_181310 AAI25168;AAI25169;AAK85714;AAK85715;AAK85716;AAK91775;AAQ88478;AAQ89097;AAV31775;CAC83097;CAC85634;CAC85635;CAH61626;CAH61631;CAL60107;CAP40188;CBM42925;EAW47933;EAW47934;EAW47935;NP_443194;NP_851826;NP_851827;Q969J5 Hs.126891 1785826;1786152;1794782;1797742 IL22RA2_1362;PMC55483P1;SHGC-106104;SHGC-79445 CRF2-10;CRF2-S1;CRF2X;IL-22BP;IL-22R-alpha-2;IL-22RA2;MGC150509;MGC150510;ZCYTOR16 IL-22 receptor subunit alpha-2;IL-22R-alpha-2;OTTHUMP00000017282;OTTHUMP00000017283;OTTHUMP00000017284;class II cytokine receptor;cytokine receptor class-II member 10;cytokine receptor family 2 member 10;cytokine receptor family type 2, soluble 1;interleukin 22-binding protein;interleukin-22 receptor subunit alpha-2;interleukin-22-binding protein;zcytoR16 APPROVED protein-coding ENSG00000164485 14901 05973 606648 REVIEWED 1344987 IL22 interleukin 22 12 12 q15 66928292 66933548 - 68642025 68647281 - 1580863;5147412;5147402;5147405;4888524;5147403;5147404;5147407;5147409;5147401;5147406;2311529;5147414;6480464;6907045 19664145;21767990;20504940;20498020;21297073;21178015;19864591;21535180;21789181;20463292;19269041;16951323 20824812;10875937;11481447;10954742;19620772;19479869;19469905;19449309;19285080;19258923;19244159;19046958;18978771;18927282;18675824;18675809;18615114;18599299;18509351;18391423;18264110;18191408;17845543;17703412;17442982;17204547;17182579;16537974;16143135;15765404;15489334;15340161;15122762;15039135;12975309;12477932;12176383;12087100;11856845;11390453;11197690;11035029;10657629;22137028;20864149;21518800;17207965;20671117;20305686;19122664;19481975;19811428;19830738;19920355;20032993;20061404;20065946;20237496;20339910;20503287;20220564;20971950;21148041;20976193;21106435;21098725;21124836;21310921;21741035;21214545;21391996;23091305;21708106;21996293;21632708;21946664;22038405;23158008;21645026;22795370;23518141;22928014;21465510;21469124;21573786;21600206;21384158;21593004;21681565;21652269;21762495;21862302;21984702;21998459;22053597;21487830;21979002;22417743;23313291;22048239;23372820;23630362;21674558;22170067;22213179;21640395;22034096;22104996;22696687;22537848;22851227;22854709;23174657;22909798;23223131;23128233;23244505;23405899;22589261;23153456 50616 Q6NZ84;Q9GZX6 ABBA01026559;AC007458;AC022511;AF279437;AF387519;AJ277247;AJ277248;AMYH01004560;AY358890;BC066263;BC066264;BC066265;BC066266;BC067509;BC067510;BC069112;BC069308;BC070261;CD559617;CH471054;CQ889879;CQ889941;CS425140;CS719533;HC679523;HC888910;JA104587;NM_020525 AAG22064;AAH66263;AAH66264;AAH66265;AAH67509;AAH67510;AAH69112;AAH69308;AAH70261;AAK62468;AAQ89249;ADQ32907;CAC06085;CAC19409;CAH61624;CAH61629;CAL60104;CAP40185;CBL86572;CBM42922;CCA63963;EAW97182;NP_065386;Q9GZX6 Hs.287369 1796102 IL22_1342 IL-21;IL-22;IL-D110;IL-TIF;IL21;ILTIF;MGC79382;MGC79384;TIFIL-23;TIFa;zcyto18 IL-10-related T-cell-derived inducible factor;IL-10-related T-cell-derived-inducible factor;OTTHUMP00000240117;cytokine Zcyto18;interleukin 21;interleukin-22 protein-coding ENSG00000127318 14900 05621 605330 VALIDATED 731906 IL23A interleukin 23, alpha subunit p19 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008] 12 12 q13.3 55018930 55020461 + 56732663 56734194 + 5037240;6480464;6484113;6907045 19935773 18606709;18579762;18497880;18490716;18408745;18373953;18319400;18311793;18190588;18180107;18054783;18029348;17945537;17763202;17606463;17564777;17236132;17187052;17182554;17021762;17007011;16772281;16751425;16688182;16670765;16424222;16342235;16339539;16300465;15731058;15583831;15489334;15486065;15114670;15070757;14707118;12975309;12847224;12525561;12477932;12421946;12162874;12023369;11390512;11114383;8570611;19605880;19587005;19542431;19426392;19333939;19322214;19264456;19262574;19201028;19169254;19088061;19040306;19034457;18825388;18786233;18752933;18708069;18680750;12671732;22759859;22298331;22621182;22127978;22144400;19915944;20428758;20154336;21516111;20956338;15265908;16482511;17888176;20682175;20953190;18754016;19247658;19431078;19479806;19542049;19657406;19705136;19797506;19845828;19900478;19929695;20027291;20054003;20071030;20331378;20106535;20603238;16341674;21145111;20624950;18675459;20840651;17207965;21145044;20682672;20886035;21227898;21161669;21623003;20701979;21231819;21560441;22678234;20873540;21402701;21515794;21531892;21576383;21387004;22683003;22688014;21670317;22851868;23121980;21302302;21641076;21518507;22003203;21547355;21747388;22174449;22417709;23388728;23053983;21740501;21931205;22262980;22209993;22177788;22505413;21116820;23050001;23116756;22559912;23250909;22965992;22705151 51561 Q9NPF7 AB030000;AB030001;ABBA01008423;AC025574;AF301620;AJ506993;AMYH01004504;AY359083;BC066267;BC066268;BC066269;BC067511;BC067512;BC067513;BM842783;BM851337;CH471054;CS498403;HI574128;JA104589;NM_016584;U38443 AAG37232;AAH66267;AAH66268;AAH66269;AAH67511;AAH67512;AAH67513;AAQ89442;ADQ32075;BAA93686;BAA93687;CAD45088;CAM82731;CBX47553;CCA63964;EAW96933;NP_057668;Q9NPF7 Hs.382212;Hs.98309 1678959;1794584;5492773 PMC321570P2;RH92829;UniSTS:482436 IL-23;IL-23A;IL23P19;MGC79388;P19;SGRF IL-23 subunit alpha;IL-23-A;IL-23p19;JKA3 induced upon T-cell activation;interleukin 23 p19 subunit;interleukin-23 subunit alpha;interleukin-23 subunit p19;interleukin-six, G-CSF related factor APPROVED protein-coding ENSG00000110944 15488 12026 605580 REVIEWED 1351657 IL23R interleukin 23 receptor The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008] 1 1 p31.3 67404757 67498250 + 67632169 67725662 + 5037240;5108250;5096624;6480464;6484113;6907045;7240710 19935773;21193288;19918037 19422935;19369463;19334001;19317742;19306001;19294505;19276991;19262574;19262523;19258923;19240061;19235913;19189980;19175939;19174780;19169254;19165485;19122664;19103559;19103525;19035472;19021011;18824555;18800148;18779654;18758464;18715515;18713787;18698678;18650833;18615094;18587394;18560602;18521924;18521914;22144400;18030204;18022867;17993580;17952073;17901940;17894849;17877509;17854611;17804789;17786191;17703412;18034172;17678845;17678723;17661912;17618837;17606463;17587057;17554300;17534574;17508420;17484863;17447842;17435756;17337463;17309073;17236132;17068223;16710414;16372191;15489334;12477932;12023369;18512797;18499543;18470928;18438406;18383521;18383363;18383179;18369459;18368064;18338763;18219280;18209723;18200510;18199597;18180107;18166373;18164077;18162085;18088064;18082575;18075513;18073300;18047540;19913121;20549515;20607725;20622878;20622879;20622911;20628086;18647855;19034457;19235914;19522770;19525409;19590455;19690863;19700857;19705136;19757086;19861958;19877036;19895338;19896081;19915572;19917163;20014019;20024904;20062062;20066736;20082483;20082850;20116410;20157760;20173782;20177049;20192940;20197757;20367798;20375120;20379614;20380008;20428899;20485703;20503287;20537165;20541026;20953190;12421946;15114670;20228799;20570966;11114383;21102463;19760754;20846217;20863779;20886065;20962850;20978829;21068102;21072187;16751425;17888176;19088061;21151126;21151597;21206965;20875477;21297633;22706445;22695161;22735941;23137879;21508257;22718508;21155887;21228792;21285166;21606346;21364948;21672939;22019778;21138378;21896776;21846945;21926348;22346247;22022372;21717520;18754016;21076058;21547355;22154103;21281511;21484795;22262659;21743469;22293688;22412388;21253733;22130325;22195034;22333126;22128865;22483685;21295022;22089529;23250909;23053963;22512642;23093722;23164360;22936669;23054009;23128233;22984500;23239971;23240095;23093364;22378604;22908971;22426692;23042301 149233 H7BZ42;Q5VWK7 ABBA01074519;ABBA01074520;ABBA01074521;ABBA01074522;AF461422;AL109843;AL389925;AM990313;AM990314;AM990315;AM990316;AM990317;AM990318;AM990319;AM990320;AM990321;AM990322;AM990323;AM990324;AM990325;AM990326;AM990327;AM990328;AM990329;AM990330;AM990331;AM990332;AM990333;AM990334;AM990335;AM990336;AM990337;AMYH01000690;AY937250;AY937251;AY937252;AY937253;AY937254;AY937255;BC016829;BC040720;BC142955;CH471059;FM212237;FM212238;FM212239;FM212240;FM212241;NG_011498;NM_144701 AAH16829;AAH40720;AAI66698;AAM44229;AAY18345;AAY18346;AAY18347;AAY18348;AAY18349;AAY18350;CAQ51232;CAQ51233;CAQ51234;CAQ51235;CAQ51236;CAQ51237;CAQ51238;CAQ51239;CAQ51240;CAQ51241;CAQ51242;CAQ51243;CAQ51244;CAQ51245;CAQ51246;CAQ51247;CAQ51248;CAQ51249;CAQ51250;CAQ51251;CAQ51252;CAQ51253;CAQ51254;CAQ51255;CAQ51256;CAR79024;CAR79025;CAR79026;CAR79027;CAR79028;EAX06501;EAX06502;NP_653302;Q5VWK5 Hs.677426 2178554 AL009967 IL-23 receptor;OTTHUMP00000010660;interleukin-23 receptor APPROVED protein-coding ENSG00000162594 19100 16249 605606;607562;612261 REVIEWED 1605405 IL24 interleukin 24 This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 q32 205137412 205144107 + 207070788 207077484 + 5147421;5024938;6480464;6484113;6907045 19399182;20618701 9826712;19535621;19087313;19056673;18941194;18842498;18723497;18599461;18511292;18376144;18281516;18281515;18278464;18061474;18029348;18025283;17828282;17703412;17627414;17305874;17263806;17178890;17178884;17083366;16912197;16264231;15851011;15815689;15709189;15580305;15564140;15489334;15383566;15340161;15334067;15304100;15273727;12907144;12907143;12811827;12606943;12533668;12485618;12477932;12395925;12351624;12182458;12114539;12085234;12055212;11844832;11706020;11704829;11163236;10942517;8799171;8545104;23063979;21448421;15342556;16313301;19276652;19666410;19734147;19802007;19916746;19965640;20061404;20072629;20103619;20163249;20179672;20187794;20189296;20216471;20383178;20406981;20501829;20503287;20962850;20976276;20858700;21109977;20545760;18704311;21282359;21524313;21922126;21843952;21931671;21787878;22475191;21732348;22248086;21988832;23110359;22917968;23078624;23128233 11009 E7ER64;E7ETP6;Q13007 ABBA01010194;AC098935;AF217405;AF235005;AF276916;AI521306;AMYH01001679;AW949784;AY062931;AY237723;AY641440;AY641441;BC009681;BP222545;BP222651;BT007156;CH471100;CS284546;GN337314;GN368442;NG_029565;NM_001185156;NM_001185157;NM_001185158;NM_006850;U16261 AAA91780;AAG41401;AAH09681;AAK52589;AAL34146;AAO67513;AAP35820;AAV52800;AAV52801;ABM81582;ABM81583;ABM84762;ABM84769;CAJ98561;CAY39296;CAY86021;EAW93518;EAW93519;NP_001172085;NP_001172086;NP_001172087;NP_006841;Q13007 Hs.58831;Hs.744273 1796104;2167433 IL24_765;SHGC-76250 C49A;FISP;IL-24;IL10B;MDA7;MOB5;Mob-5;ST16;mda-7 IL-4-induced secreted protein;OTTHUMP00000034620;OTTHUMP00000034621;OTTHUMP00000216789;OTTHUMP00000216790;interleukin-24;melanocyte-associated Mda-7;melanoma differentiation association protein 7;melanoma differentiation-associated gene 7 protein;suppression of tumorigenicity 16 (melanoma differentiation) APPROVED protein-coding ENSG00000162892 11346 04995 604136 REVIEWED 735947 IL2RA interleukin 2 receptor, alpha The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009] 10 10 p15-p14 6093512 6144278 - 6052657 6104333 - 1600117;1580863;2311527;2311528;2311529;2311530;2311526;5147437;5147445;4891500;5147436;5147443;5147438;6480464;6484113;6907045;7240710 9096364;19119414;19106270;19269041;18503494;19125193;21377197;20525707;21072213;21436245;20639494;21309737 19565500;17543960;16698664;8364583;1394441;21132303;2983318;2467293;19527514;19522766;19506219;19505389;19499289;19471255;19377213;19375175;19327240;19289595;19265545;19264985;19258923;19240061;19231135;19192224;19155519;19155502;19139102;19116909;19077408;19073967;19034005;19019335;18978792;18818748;18780166;18715339;18641304;18641303;18593762;18556337;18451325;18390743;18376303;18354419;18287585;18261176;18204854;18174382;18162781;18089681;18059223;18021968;17985312;17981806;17975141;17944116;17878392;17712998;17703412;17676041;17661330;17660530;17645467;17615291;17591854;17523134;17462597;17420929;17395754;17389235;17372588;17371467;17313446;17304105;17302593;17294624;17275508;17237241;17205058;17175221;17152005;17074352;17062437;16955142;16920911;16911870;16889540;16758122;16750991;16690518;16491350;16477002;16410445;16380476;16339919;16293754;16226465;16126178;16087671;16060678;16034095;16003241;15985167;15972448;15964425;15885081;15776395;15731180;15714205;15713622;15649306;15619904;15617342;15503821;15365604;15353339;15328201;15263076;15197226;14680494;12970897;12698200;12581498;12525482;12486319;12374985;12230826;12200381;12171778;11986281;11960393;11886175;11856346;11485747;11416131;10848593;10815800;10602027;9268307;9223324;9203962;8943338;8896456;8752938;8530186;8125298;8098618;7862168;7734194;7588634;7539755;7529123;6096720;6090949;6090948;3925551;3135323;3134887;3097520;3030566;2999698;2996141;2990220;2941417;2901720;2785715;2497520;2308942;2153927;2083254;2016116;1993646;1976256;1693645;1685671;1511461;9637477;9341758;2843775;2315327;7903128;7853525;2303462;15784911;1832084;22158072;22211793;22222639;22309031;22446965;22516956;21300823;20562654;19951265;16385451;18650830;19141347;19303058;19430480;19447046;19523791;19525953;19525955;19637754;19664391;19667946;19667950;19701192;19715524;19734224;19794070;19798683;19822714;19833889;19834503;19849846;19865102;19879194;19923221;19956099;19956753;20032294;20033399;20063526;20164820;20179739;20203524;20213609;20219786;20237496;20346270;20362271;20368992;20378605;20410501;20424473;20452482;20498205;20503287;15123239;22213266;22897480;23217119;20403730;20140262;20716621;20849903;21048031;20448211;20539016;21131424;20930173;22554193;20483636;20484297;20453842;20518821;20224778;20545784;21102463;19913121;20596022;20599261;20615141;20628086;20673868;20810507;20595929;8493579;20716663;21757642;21911588;21094786;19375249;20388015;21278348;21157146;20450971;20729906;10825200;22576476;22313865;23121673;21179414;21437244;21376048;21571262;21744325;21533205;22117963;21239413;21557210;21651772;23129754;21941578;21211217;21525574;21815908;21839272;21557772;22461703;22824721;23418630;21949691;21980389;21249500;22195034;22294642;22447883;22558434;22564647;22537764;22032685;22266274;21829393;21833088;22012429;22190364;22228203;22293688;22310634;21722762;22672991;22436290;23508266;23383287;23676143;23416241;17431094;17604883;21180073;22466163;22479496;22623161;23103669;23116454;23128233;22419479 3559 H0Y5Z0;P01589;Q5W005;Q5W006 ABBA01034769;AF008556;AK223313;AK313847;AL137186;AL157395;AMYH01002002;AY563103;BN000945;CH471072;HI573910;JA738831;K03122;M11066;M14098;M15864;NG_007403;NM_000417;X01057;X03131;X03138 AAA59142;AAA59162;AAA67527;AAB59535;AAB63458;AAI52890;AAI56628;AAS55572;BAD97033;BAG36576;CAA25525;CAA26906;CAK26553;CBX47444;CCF77061;EAW86412;EAW86413;EAW86414;NP_000408;P01589 Hs.231367 1673058;1683787;1708622;1742243;1764629;1767433;1794940;1796106;1852067;5022425 D22S296;GDB:193868;IL2RA_767;PMC85880P1;RH11124;RH27239;SHGC-148218;SHGC-85106;STS-X01057;STS-X03133 CD25;IDDM10;IL2R;TCGFR IL-2 receptor subunit alpha;IL-2-RA;IL-2R subunit alpha;IL2-RA;OTTHUMP00000019030;OTTHUMP00000019031;OTTHUMP00000019032;TAC antigen;interleukin 2 receptor, alpha chain;interleukin-2 receptor subunit alpha;p55 2315438 INSUL41_H APPROVED protein-coding ENSG00000134460 6008 00986 147730;601942;606367 REVIEWED 1343577 IL27 interleukin 27 The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008] 16 16 p11 28418184 28425656 - 28510683 28518155 - 1580863;5128485;5128491;5128477;5128483;5128484;4145651;5128479;6480464;6484113 17318299;20705635;19124731;18554158;20817868;19542437 12734330;19582813;19549909;19523673;19380822;19258923;19148899;19124747;18557702;18482209;18453571;18424756;18191724;18178151;18167155;17985330;17703412;17068156;16751375;16670765;15793300;14764690;14657353;12477932;12121660;22701040;22837488;22021194;22621182;21420486;21545428;20435369;20519510;20375623;20604932;20435892;20952070;20971923;20974984;21102463;22876110;17207965;21182076;19430480;19556424;19620301;19625647;19657406;19686419;19798410;19915574;19924133;20112358;20176734;20301193;20503287;20454646;21360515;23091017;21357266;22430249;21115047;21482740;21622862;22863719;20416175;21385171;22210084;22343630;23240078;23333920;22069308;21592822;21795063;23086758;21829393;22040814;22678908;22678911;22656398;22965735;22230324;22825627;23049843;23128233;23209286;23711856;23280240;23294976;22911112;23101722;23335749 246778 H3BQY2;Q8NEV9 ABBA01043652;AC138894;AMYH01007433;AY099296;BC062422;CH471279;EF064720;JA104595;NM_145659 AAH62422;AAM34498;ABK41903;ADQ32049;CCA63967;EAW52277;NP_663634;Q8NEV9 Hs.528111 IL-27;IL-27A;IL27A;IL27p28;IL30;MGC71873;p28 IL-27 p28 subunit;IL-27 subunit alpha;IL-27-A;IL27-A;OTTHUMP00000122516;interleukin 30;interleukin-27 subunit alpha APPROVED protein-coding ENSG00000197272 19157 16307 608273 REVIEWED 1344819 IL25 interleukin 25 The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 14 14 q11.2 22911858 22915452 + 23842018 23845612 + 1580863;6480464 11058597;19329997;19129540;19095584;17889290;17719653;17635955;16950278;16522458;15489334;15340161;12975309;12477932;12239140;11754819;11714825;19968632;20237496;17207965;20861853;20729468;16226712;21205894;20492545;22691357;21570719;20944558;21980299;22266274 64806 Q9H293 ABBA01061320;AF305200;AF458059;AF461739;AL049829;AMYH01005604;AY359127;BC069565;BC104929;BC104931;CH471078;FB726952;GN034129;JA104593;NM_022789;NM_172314 AAG40848;AAH69565;AAI04930;AAI04932;AAL57622;AAN39038;AAQ89484;ACE86659;ACE87341;ADQ32926;CAT03415;CAX36792;CCA63966;EAW66161;EAW66162;NP_073626;NP_758525;Q9H293 Hs.302036 1796084 IL17E_757 IL-17E;IL-25;IL17E OTTHUMP00000027946;OTTHUMP00000246238;interleukin 17E;interleukin-17E;interleukin-25 2315792 GLUCO171_H APPROVED protein-coding ENSG00000166090 13765 05742 605658 REVIEWED 1346180 IL26 interleukin 26 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008] 12 12 q15 66881396 66905838 - 68595129 68619571 - 1580863;6480464;6907045 10729163;18332247;15489334;15178681;14764663;14558082;12477932;11528524;11197690;17703412;18483078;19122664;19258923;20176734;20237496;20379614;20503287;20228799;17207965;21297633;23128233;21832049;22622197;23055831 55801 Q9NPH9 ABBA01026559;ABBA01026560;AC007458;AJ251549;AJ251550;AJ251551;AMYH01004560;AY509906;BC066270;BC066271;CH471054;NM_018402 AAH66270;AAH66271;AAR87776;ADQ32042;CAB76942;CAB77049;EAW97181;NP_060872;Q9NPH9 Hs.272350 1695408;1715839;2107223;2190383 HBDA_1;IL26_3056.2;RH119613;SHGC-68525 AK155;IL-26 OTTHUMP00000240112;interleukin-26 APPROVED protein-coding ENSG00000111536 17119 16140 605679 REVIEWED 1312815 IL27RA interleukin 27 receptor, alpha In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 14036058 14057825 + 14003262 14025026 + 14142552 14163731 + 5128480;5128477;5128486;5128496;6480464;6484113 19354069;20705635;15749890;16081811 9600072;19549909;19258923;18003935;17703412;15489334;14764690;12975309;12734330;12477932;12121660;11057672;19386761;20503287;21631431;22312192;21139048 9466 Q6UWB1 ABBA01029695;ABBA01029696;ABBA01029697;AC022098;AF053004;AF106912;AF265242;AI983115;AMYH01009518;AW298502;AY358876;BC028003;CH471106;EF064719;FB507086;HH829741;NM_004843 AAC39755;AAG26090;AAG27297;AAH28003;AAQ89235;ABK41902;ABM81977;ABM85156;CAV32862;CBX32720;EAW84389;EAW84390;NP_004834;Q6UWB1 Hs.132781;Hs.352155 1797038;1847250 D19S662E;WSX1_1318 CRL1;IL-27RA;IL27R;TCCR;WSX1;zcytor1 IL-27 receptor subunit alpha;IL-27R subunit alpha;IL-27R-alpha;IL-27RA;T-cell cytokine receptor type 1;class I cytokine receptor;cytokine receptor WSX-1;cytokine receptor-like 1;interleukin-27 receptor subunit alpha;type I T-cell cytokine receptor APPROVED protein-coding ENSG00000104998 17290 09247 605350 REVIEWED 1353267 IL31 interleukin 31 IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM, Mar 2008] 12 12 q24.31 121222530 121224699 - 122656577 122658746 - 6480464 19281909;18926762;18802341;18678344;18439099;17900679;17487427;17030248;16461143;16461142;15925362;15184896;12477932;22621183;21294778;18839421;19920145;20190140;19889120;20410259;20163453;21057749;21211659;21182835;22017185;21952721;21261663;22177328;22509760;22539792 386653 Q6EBC2 ABBA01060479;AC048338;AMYH01004825;AY499343;BC132998;BC133000;CH471054;CS398406;CS399446;CS401255;CS456685;CS720082;FB507079;FB753876;GM989492;GN088750;HC731045;HH829734;NM_001014336 AAI32999;AAI33001;AAS86448;CAL44872;CAL44939;CAL44950;CAL91842;CAP40193;CAT05434;CAV32859;CAX21673;CAX86999;CBL94048;CBX32717;EAW98310;NP_001014358;Q6EBC2 Hs.569071 IL-31 OTTHUMP00000239740;interleukin-31 APPROVED protein-coding ENSG00000204671 19372 11877 609509 VALIDATED 737611 IL2RB interleukin 2 receptor, beta The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. [provided by RefSeq, Jul 2008] 22 22 q13.1 35851824 35875908 - 37521878 37545962 - 1580863;5147447;5024942;5684377;6480464;5684380;6484113;6907045 18641329;20860503;20728947;12196288 17115417;17108990;16477002;16380905;16293754;16284400;16084898;15489334;15461802;15350462;15191519;15063762;14680494;12960323;12676936;12477932;12230826;12200137;12133952;11886175;11856346;11750878;11463390;11238664;11133764;11035066;10825200;10602027;10591208;10514520;10373548;10214954;9774657;9553136;9520455;9176231;8700888;8648694;8483935;8294403;8049354;8026467;7973659;7734194;7693677;7641685;7600304;7529123;3925551;2333293;2047859;1973832;1915291;1639773;1557373;1394441;9637477;9341758;2843775;2315327;7973658;2303462;17152005;2467293;7736574;2785715;8514792;19258923;19240061;19019335;18829468;18818748;18791162;18774388;18715339;18592269;18589435;18490721;18445679;18299274;17703412;21653640;19471255;19527514;19602517;19773451;19817957;19822714;19923221;20049410;20179739;20219786;20237496;20379614;20424473;20498205;20503287;20495002;20140262;20811626;8493579;20585888;19913121;20628086;11359922;21345943;21362618;21674833;21839273;21865161;21984699;22573796;19615332;22558434;21829393;21834013;8041779;23341462;23418630;23676143 3560 B0QYC0;B0QYC1;B0QYC2;H7C1H9;P14784 AA834613;ABBA01055460;AF517934;AK312860;AL022314;AMYH01012753;AW193701;BC025691;CH471095;CR456506;M26062;NM_000878 AAA59143;AAH25691;AAM54040;ABM85025;BAG35712;CAG30392;CAK54535;CAK54834;EAW60144;NP_000869;P14784 Hs.474787 1338932;1688066;1729029;1732071;1742011;1742085;2146022;2161752 D22S1045;D22S450;GDB:180405;GDB:188757;GDB:190926;Il2rb;RH17685;RH27828 CD122;IL15RB;P70-75 CD122 antigen;IL-2 receptor subunit beta;IL-2R subunit beta;IL-2RB;OTTHUMP00000197764;OTTHUMP00000197767;high affinity IL-2 receptor beta subunit;high affinity IL-2 receptor subunit beta;interleukin 15 receptor, beta;interleukin 2 receptor, beta chain;interleukin-2 receptor subunit beta;p75 APPROVED protein-coding ENSG00000100385 6009 00896 146710 REVIEWED 737391 IL3 interleukin 3 (colony-stimulating factor, multiple) The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008] 5 5 q31.1 131424246 131426795 + 131396347 131398896 + 1580863;2317663;2317666;2317665;5684375;5686879;5686875;6480464;5686773;5686890;5686897;5686905;5686815;5686876;5686886;5686795;5686817;5686901;5686909;6484113;6907045 15843207;11268282;18214547;20945403;20957152;21203453;21537082;20500666;20479761;20018070;17934472;21175248;20717122;21515263;18769539;20332709;19889595 2544122;18692472;3497400;9736740;9722506;19262575;19258923;19247692;19201898;19158269;19131452;19074885;18829683;18826654;18804346;18768389;18676680;18633131;17703412;17624239;17541278;17507237;17362254;17273755;17179997;16785501;15988318;15878977;15585837;15576295;15489334;15372320;15372022;15060062;14755254;14675189;14628073;14615378;14564341;14551608;12943658;12884288;12855588;12759409;12612065;12477932;12423306;12165512;12135758;12093816;12055233;12002675;11994280;11861295;11763346;11714768;11700046;11486081;11399510;11179015;9659156;9629242;9551928;9278420;9113989;8676386;8649415;8516290;3497843;3489530;3127463;2268499;1833064;12089333;8018916;7642615;9209414;7957082;21506110;19913121;20628086;20673868;10677502;19170196;19529981;19578876;19625176;19692168;19730683;19829692;19845895;20147630;20210668;20237496;20424473;20452482;20453000;20503287;20472554;20381581;20738848;17207965;20800603;21071541;20516062;10477722;9030599;21102463;21262803;21168724;21224257;20964623;23226269;21643009;22321809;22515947;22412388;23024272;23128233 3562 P08700;Q6NZ79 ABBA01068814;AC004511;AC034228;AF365976;AMYH01015612;BC066272;BC066273;BC066274;BC066275;BC066276;BC069472;CH471062;HI574160;M14743;M17115;M20137;NM_000588 AAA35725;AAA59146;AAA59147;AAC08706;AAH66272;AAH66273;AAH66274;AAH66275;AAH66276;AAH69472;AAK38378;ADQ32937;CBX47569;EAW62354;NP_000579;P08700 Hs.694 1643766;1644157;1754071;1797744;1800642;1817274;1817908;1819000;1825814;1836684;1995572;1995574;1995576;1995578;1995580;1995582;1995584;1995586;1995588;1995590;1995592;1995594;1995596;1995598;1995600;1995602;1995604;1995606;1995608;1995610;2095570;2095572;2095574;2095576;2135520 D5S2409;ECD01182;ECD09687;ECD10008;ECD10565;ECD14015;ECD19506;G10621;IL3_1962;REN68694;REN68695;REN68696;REN68697;REN68698;REN68699;REN68700;REN68701;REN68702;REN68703;REN68704;REN68705;REN68706;REN68707;REN68708;REN68709;REN68710;REN68711;REN68712;REN68713;RH17672;SHGC-132106;stSG601023;stSG601024;stSG601025;stSG601026 IL-3;MCGF;MGC79398;MGC79399;MULTI-CSF OTTHUMP00000065963;P-cell stimulating factor;P-cell-stimulating factor;hematopoietic growth factor;interleukin 3;interleukin-3;mast cell growth factor;mast-cell growth factor;multilineage-colony-stimulating factor;multipotential colony-stimulating factor APPROVED protein-coding ENSG00000164399 6011 00987 147740 REVIEWED 731533 IL2RG interleukin 2 receptor, gamma The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010] X X q13.1 70243984 70248128 - 70327254 70331481 - 1600009;1580863;6480464;6484113;6907045;7240710 7557965 11856346;8266076;8266078;8266077;12504082;8514792;19615332;19494261;19258923;19234229;18829468;18791162;18589435;18417356;17703412;17363735;17082603;16477002;16293754;15702055;15489334;14726805;14680494;12477932;12370829;12207328;12200137;12036606;11886175;11858939;11750878;11426455;11418669;11418623;10662798;9797872;9399950;9326644;9169421;9150740;9010926;8900089;8648694;8643566;8568232;8462096;8401490;8378320;8299698;8088810;8049354;8027558;7973658;7937790;7883965;7860773;7706294;7668284;7641685;7529123;1976256;1631559;9637477;9341758;2843775;2315327;7973659;9799097;16004964;17474147;19011158;19734221;19802382;19812686;19859091;19923221;20237496;20503287;20592278;8493579;20301584;10825200;21831415;21715655;22223761;22737248;21906983;23341462;22363690;22039266;12242343;21988832;22645657;22505724;8041779 3561 D6R964;D6RBW5;D6RDW9;H0Y8J6;P31785;Q5FC10 AB102793;AB102794;AB102795;AB102796;AB102797;ABBA01067666;ABBA01067667;AK298656;AK314932;AL590764;AMYH01022534;AY692262;BC014972;BC071710;CH471132;D11086;D16358;DC345219;GN051377;GN061222;L12183;L19546;NG_009088;NG_021141;NM_000206 AAA59145;AAC37524;AAH14972;AAT85803;ABM86377;ABW03788;BAA01857;BAA03861;BAD89384;BAD89385;BAD89386;BAD89387;BAD89388;BAG37438;BAH12839;CAX52142;CAX52189;EAX05319;NP_000197;P31785 Hs.84 1648433;1701852;1745431;2121555;2162605;5015927;7183965;7183966 GDB:375720;GDB:607640;IL2RG;RH11053;RH17366;SGC35235 CD132;CIDX;IL-2RG;IMD4;P64;SCIDX;SCIDX1 CD132 antigen;IL-2 receptor subunit gamma;IL-2R subunit gamma;OTTHUMP00000023489;combined immunodeficiency, X-linked;common cytokine receptor gamma chain;common gamma-chain;cytokine receptor common subunit gamma;gamma(c);gammaC;interleukin 2 receptor, gamma (severe combined immunodeficiency);interleukin 2 receptor, gamma chain;interleukin-2 receptor subunit gamma;severe combined immunodeficiency APPROVED protein-coding ENSG00000147168 6010 02391 300400;308380;312863 REVIEWED 1602184 IL34 interleukin 34 Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008] 16 16 16 q22.1 54830211 54914394 - 69237969 69252085 + 70613798 70694585 + 6480464 18467591;16713569;12477932;22264405;20504948;23177320;22039170;23206468;23260168 146433 H3BPB7;J3QQT3;Q6ZMJ4 ABBA01010651;ABBA01010652;ABBA01010653;ABBA01010654;ABBA01010655;AC020763;AC106804;AK172744;AK307727;AK308799;AK314913;AMYH01007784;AW292500;BC029804;BQ709387;CD248375;CD515627;CH471241;EU599219;EU636994;NM_001172771;NM_001172772;NM_152456 AAH29804;ACD13452;ACD13474;BAD18731;BAG37425;EAW51800;EAW51801;EAW51802;NP_001166242;NP_001166243;NP_689669;Q6ZMJ4 Hs.461214 1727261;1856944;5016596 G62886;GDB:631802;SHGC-60857 C16orf77;IL-34;MGC34647 OTTHUMP00000174906;interleukin-34 APPROVED protein-coding ENSG00000157368 28529 14582 612081 VALIDATED 1344882 IL31RA interleukin 31 receptor A The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] 5 5 q11.2 55183091 55248738 + 55147207 55218682 + 1580863;6480464 11877449;18926762;18580959;16461143;15627637;15489334;15340161;15194700;15184896;14504285;12975309;12477932;11329013;19690585;19730683;20237496;20379614;20849534;23128233 133396 B4DNJ2;J3KNB6;Q8WYJ0 ABBA01015752;ABBA01015753;ABBA01015754;ABBA01015755;AC008914;AF106913;AF486620;AK297938;AMYH01015092;AMYH01015093;AY358117;AY358740;AY499339;AY499340;AY499341;AY499342;BC110490;BG194774;CH471123;CS398412;FB507082;GM989496;GM989498;GN088754;GN088756;HC731049;HC731051;HH829737;HI936211;NG_029436;NM_001242636;NM_001242637;NM_001242638;NM_001242639;NM_139017 AAI10491;AAL36452;AAM27958;AAQ88484;AAQ89100;AAS86444;AAS86445;AAS86446;AAS86447;BAG60254;CAL44875;CAV32860;CAX21675;CAX21676;CAX87001;CAX87002;CBL94050;CBL94051;CBX32718;CBY79723;EAW54930;EAW54931;EAW54932;EAW54933;EAW54934;NP_001229565;NP_001229566;NP_001229567;NP_001229568;NP_620586;Q8NI17 Hs.55378 1651083;1667765;5022578 D1S1423;G16909;SGC44558 CRL;CRL3;GLM-R;GLMR;GPL;IL-31RA;MGC125346;PLCA2;PRO21384;hGLM-R GP130 like receptor;IL-31 receptor subunit alpha;IL-31R subunit alpha;IL-31R-alpha;OTTHUMP00000122547;OTTHUMP00000195058;OTTHUMP00000195059;OTTHUMP00000195060;OTTHUMP00000221877;class I cytokine receptor;cytokine receptor-like 3;gp130-like monocyte receptor;gp130-like receptor;interleukin-31 receptor subunit alpha;soluble type I cytokine receptor CRL3;zcytoR17 APPROVED protein-coding ENSG00000164509 18969 17145 609510;613955 REVIEWED 1350575 IL32 interleukin 32 This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 p13.3 3055314 3059669 + 3115313 3119668 + 6480464 1729377;19291698;19248119;19228941;19017495;18768856;18414668;18296636;18289868;18287021;17619821;16903774;16492735;16488976;16410314;16341674;15664165;15489334;12477932;9653642;16303761;21468596;21383200;20889550;20480520;20400971;19364659;19386602;19628777;19740314;19880327;20112365;20190143;20227751;20237496;20541181;20888796;20615213;20470879;20221440;21078994;22687868;21152864;21208204;20926308;21346229;21481941;21525393;21321117;21469100;21452292;21423208;21725974;22037460;21551364;21602493;21649914;21487807;22613074;22198481;22927445;22043900;22203669;22174851;20972266;21139048;21899560;22277801;22486709;23000965;23402302;23517397;22505724;22563781 9235 B8Q191;C6GKH1;E9PIV2;E9PK07;F8VSD2;F8VVN4;F8W1V1;Q8WV38 ABBA01026726;AC108134;AK296143;AK307158;AK310053;AMYH01007089;AY495331;AY495332;AY495333;AY495334;BC009401;BC018782;BC105602;BF568456;BG748458;BM759359;BM822755;CH471112;CS300610;EU339107;FJ985780;FJ985781;JN546102;M59807;NG_029254;NM_001012631;NM_001012632;NM_001012633;NM_001012634;NM_001012635;NM_001012636;NM_001012718;NM_004221;W57940 AAA36367;AAH09401;AAH18782;AAI05603;AAS80143;AAS80144;AAS80145;AAS80146;AAS80147;AAS80148;ACA50721;ACS74769;ACS74770;AEN74995;BAG58883;CAK32274;EAW85405;EAW85406;EAW85407;EAW85408;EAW85409;EAW85410;EAW85411;EAW85412;NP_001012649;NP_001012650;NP_001012651;NP_001012652;NP_001012653;NP_001012654;NP_001012736;NP_004212;P24001 Hs.943 1339525;1774166;1774168 D16S3082;D16S3245;STS-M59807 IL-32alpha;IL-32beta;IL-32delta;IL-32gamma;NK4;TAIF;TAIFa;TAIFb;TAIFc;TAIFd IL-32;OTTHUMP00000236040;OTTHUMP00000236041;OTTHUMP00000236042;OTTHUMP00000236043;OTTHUMP00000236044;OTTHUMP00000236045;OTTHUMP00000236046;OTTHUMP00000236047;OTTHUMP00000236048;OTTHUMP00000236049;OTTHUMP00000236050;OTTHUMP00000236051;OTTHUMP00000236052;OTTHUMP00000236053;OTTHUMP00000236054;OTTHUMP00000241545;OTTHUMP00000241602;OTTHUMP00000241603;OTTHUMP00000241604;OTTHUMP00000241605;OTTHUMP00000241606;OTTHUMP00000241607;OTTHUMP00000241608;OTTHUMP00000241609;OTTHUMP00000241610;OTTHUMP00000241611;OTTHUMP00000241612;interleukin-32;interleukin-32 eta;interleukin-32 small;interleukin-32 theta;natural killer cell transcript 4;natural killer cells protein 4;tumor necrosis factor alpha-inducing factor APPROVED protein-coding ENSG00000008517 16830 09346 606001 REVIEWED 1322461 IL33 interleukin 33 IL33 (MIM 608678) is a member of the IL1 (see MIM 147760) family that potently drives production of T helper-2 (Th2)-associated cytokines (e.g., IL4; MIM 147780). IL33 is a ligand for IL33R (IL1RL1; MIM 601203), an IL1 family receptor that is selectively expressed on Th2 cells and mast cells (summary by Yagami et al., 2010 [PubMed 20926795]).[supplied by OMIM, Jan 2011] 9 9 p24.1 6231678 6247982 + 6215786 6257983 + 6480464 17185418;22079334;16286016;19596270;19559631;22708120;19439663;19393621;19372185;19266498;19248109;19204726;19198610;19037964;18955562;18941187;18836528;18827826;18802081;18787100;18762778;18688256;18539196;18250453;17853410;17700564;17675461;17623648;15489334;15164053;12819012;12477932;10566975;20338108;20406635;20534741;20708824;20816195;21190867;16169070;19465481;19756962;19801525;19841166;19860791;19888696;19906013;19913053;19918048;20029461;20035719;20153038;20379614;20385815;20072851;20860503;20926795;20689058;20305685;19508382;20532808;20405148;20682660;20731692;20931364;21357533;21454686;20958987;21037074;23028054;22841163;20963466;21765905;22673732;22785132;22819319;21246230;22921786;23362867;21519352;21734074;21802127;21674479;21682736;21684348;21737781;21441054;21935266;22627366;21949719;22215666;23641786;22233535;23039129;23178147;23206447;23261461;22189043;22239947;22315510;22307629;21674220;22100205;22270365;22329990;21804549;22246057;21431944;21898270;22349136;22540331;22590860;22634619;23000728;23219168;23300625;23472165;23319592;22682001;22304300;22699663;23159404;23205532;22858587;23093619;23162017;22587998;22809957 90865 O95760 AB024518;ABBA01065398;AI610794;AK295908;AK303943;AK313414;AL080211;AL353741;AMYH01019206;AY905581;BC047085;BQ878541;CH471071;CR407619;DB477860;HQ641439;NM_001199640;NM_001199641;NM_033439 AAH47085;AAX86998;ADR77828;BAA75892;BAG36208;BAG58697;BAG64871;CAG28547;EAW58748;EAW58749;EAW58750;EAW58751;NP_001186569;NP_001186570;NP_254274;O95760 Hs.731660 1669413;1769559;2118090;2121233 D9S2078;RH46528;RH47407;SHGC-57740 C9orf26;DKFZp586H0523;DVS27;IL1F11;NF-HEV;NFEHEV;RP11-575C20.2 DVS27-related protein;IL-1F11;IL-33;OTTHUMP00000021041;interleukin-1 family member 11;interleukin-33;nuclear factor for high endothelial venules;nuclear factor from high endothelial venules APPROVED protein-coding ENSG00000137033 16028 12275 608678 VALIDATED 1317278 IL36B interleukin 36, beta The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 q14 113496139 113526911 - 113779668 113810440 - 1580863;6480464 10744718;18484691;16646978;15815621;14734551;12477932;11991722;11574262;11466363;11278614;11145836;11093146;10860666;10625660;10512743;9169134;8188271;21242515;20141484;20237496;21965679 27177 Q9NZH7 ABBA01074247;AC016724;AF200494;AF201833;AMYH01010967;BC101831;BC101833;BN000002;CA441070;CH471217;DQ224343;NM_014438;NM_173178 AAF25213;AAF69250;AAI01832;AAI01834;AAY14989;ABA60896;CAD29876;EAW73615;EAW73616;NP_055253;NP_775270;Q9NZH7 Hs.278909 1797740 IL1F8_2206 FIL1;FIL1-(ETA);FIL1H;FILI-(ETA);IL-1F8;IL-1H2;IL1-ETA;IL1F8;IL1H2;MGC126880;MGC126882 FIL1 eta;IL-1 eta;IL-1F8 (FIL1-eta);IL1F8 (Canonical product IL-1F8a);Interleukin-1 Superfamily e;OTTHUMP00000162016;OTTHUMP00000162017;family of interleukin 1-eta;interleukin 1 family, member 8 (eta);interleukin 1, eta;interleukin-1 eta;interleukin-1 family member 8;interleukin-1 homolog 2;interleukin-36 beta APPROVED protein-coding ENSG00000136696 15564 05694 605508 REVIEWED 1315732 IL36A interleukin 36, alpha 2 2 q12-q14.1 113479920 113482092 + 113763449 113765621 + 1580863;6480464 10625660;18484691;17908936;16777052;15815621;15489334;14734551;12477932;12110411;11991722;11574262;11466363;11278614;11145836;11093146;10860666;10744718;10512743;9169134;8188271;19913121;20628086;20141484;20237496;21242515;21965679 27179 Q9UHA7 ABBA01074248;AC016724;AF201831;AK314149;AMYH01010967;AY944686;BC107042;BC107043;BN000002;CH471217;NM_014440 AAF25211;AAI07043;AAI07044;AAX20113;AAY14988;BAG36836;CAD29875;EAW73614;NP_055255;Q9UHA7 Hs.278910 FIL1;FIL1(EPSILON);FIL1E;IL-1F6;IL1(EPSILON);IL1F6;MGC129552;MGC129553 FIL1 epsilon;IL-1 epsilon;IL-1F6 (FIL-1-epsilon);OTTHUMP00000203688;interleukin 1 family, member 6 (epsilon);interleukin 1, epsilon;interleukin-1 epsilon;interleukin-1 family member 6;interleukin-36 alpha APPROVED protein-coding 15562 16113 605509 PROVISIONAL 1351778 IL36G interleukin 36, gamma The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 q12-q21 113452077 113459698 + 113735606 113743227 + 1580863;6480464 10744718;18484691;15815621;15701729;15489334;15331687;14734551;12975309;12477932;11991723;11991722;11574262;11466363;11278614;11145836;11093146;10860666;10625660;10512743;9169134;8188271;20141484;20237496;21242515;23095752;20870894;21965679 56300 C9J681;Q9NZH8 ABBA01074248;AC016724;AF200492;AF206696;AMYH01010967;AY359111;AY968311;BC096721;BC098130;BC098155;BC098337;BN000002;CH471217;NM_001278568;NM_019618 AAF69248;AAG35670;AAH96721;AAH98130;AAH98155;AAH98337;AAQ89469;AAX59035;AAY14987;CAD29874;EAW73613;NP_001265497;NP_062564;Q9NZH8 Hs.211238 1754233;1796072;2146983 IL-1H1_156;SHGC-132256;SHGC-17728 IL-1F9;IL-1H1;IL-1RP2;IL1E;IL1F9;IL1H1;IL1RP2 IL-1 epsilon;IL-1 related protein 2;IL-1(EPSILON);IL-1-epsilon;IL-1-related protein 2;OTTHUMP00000203689;OTTHUMP00000203690;interleukin 1 family, member 9;interleukin 1-related protein 2;interleukin-1 epsilon;interleukin-1 family member 9;interleukin-1 homolog 1;interleukin-36 gamma APPROVED protein-coding ENSG00000136688 15741 05707 605542 REVIEWED 1346334 IL37 interleukin 37 The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 q12-q14.1 113387019 113392930 + 113670548 113676459 + 1580863;6480464 10625660;10744718;18484691;18390730;15815621;15527767;15489334;12496389;12477932;12381835;12096920;11991723;11991722;11574262;11466363;11278614;11145836;11093146;10860666;10512743;9169134;8188271;19874811;20141484;20237496;21072596;17207965;20935647;21394384;22646996;23600829;23182761;21873195;23159404 27178 Q7RU00;Q9NZH6 AB451333;AB451478;ABBA01074248;AC079753;AF167368;AF200496;AF201832;AF251118;AF251119;AF251120;AMYH01010967;AY071840;AY071841;AY973625;BC020637;BN000002;CH471217;NG_029219;NM_014439;NM_173202;NM_173203;NM_173204;NM_173205 AAF25212;AAF69252;AAG14420;AAG14421;AAG14422;AAG29344;AAH20637;AAL67151;AAL67154;AAX59036;AAX88889;ABM82314;ADQ32131;BAG70147;BAG70292;CAD29873;EAW73608;EAW73609;EAW73610;EAW73611;EAW73612;NP_055254;NP_775294;NP_775295;NP_775296;NP_775297;Q9NZH6 Hs.166371 FIL1;FIL1(ZETA);FIL1Z;IL-1F7;IL-1H;IL-1H4;IL-1RP1;IL-37;IL1F7;IL1H4;IL1RP1 FIL1 zeta;IL-1 zeta;IL-1F7b (IL-1H4, IL-1H, IL-1RP1);IL-1X protein;IL1F7 (canonical product IL-1F7b);OTTHUMP00000162032;OTTHUMP00000162033;OTTHUMP00000162034;OTTHUMP00000162035;OTTHUMP00000162036;interleukin 1 family member 7;interleukin 1 family, member 7 (zeta);interleukin 1, zeta;interleukin-1 family member 7;interleukin-1 homolog 4;interleukin-1 superfamily z;interleukin-1 zeta;interleukin-1-related protein;interleukin-23;interleukin-37 APPROVED protein-coding ENSG00000125571 15563 05695 605510 REVIEWED 1348134 IL3RA interleukin 3 receptor, alpha (low affinity) The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jun 2012] X;Y X;Y p22.3 or Yp11.3 1415509 1461582 + 1405509 1451582 + 1580863;6480464;6484113;6907045 19109256;1833064;17474147;19281803;18555589;18547720;18047539;17522711;16007196;15988755;15795318;15489334;14671644;12943658;12604332;12504125;12477932;12384414;12351411;12044522;11207369;11120855;11034417;10515868;9574547;9278420;8948019;8943237;8649415;8599840;8213838;8100720;7957082;7887951;7796808;7651724;14500898;23080069;20673868;19257981;19454491;19614769;19730683;19762535;20452482;10477722;20819538;20888334;21330473;20809502;21917686;21176354;21955314;21933861;22719258 3563 J3JS34;P26951 ABBA01055727;ABBA01055728;ABBA01055729;ABBA01055730;ABBA01055731;ABBA01055732;ABBA01055733;ABBA01055734;ABBA01055735;AI765858;AK290568;AL683870;AMYH01021991;AMYH01021992;AMYH01021993;AMYH01021994;AW452270;AY789109;BC035407;BX119906;BX296563;BX901885;CH471074;D49410;FJ550347;M74782;NM_001267713;NM_002183 AAA59148;AAH35407;AAV40832;ABW03424;ACM24116;BAA08393;BAF83257;CAI39694;CAI39695;EAW98679;NP_001254642;NP_002174;P26951 Hs.632790 2155136;2217486 IL3RA_2734;RH65317 CD123;IL3R;IL3RAY;IL3RX;IL3RY;MGC34174;hIL-3Ra CD123 antigen;IL-3 receptor alpha SP2 isoform;IL-3 receptor subunit alpha;IL-3R subunit alpha;IL-3R-alpha;IL-3RA;OTTHUMP00000022828;interleukin-3 receptor subunit alpha APPROVED protein-coding ENSG00000185291 6012 02392;08951 308385;430000 REVIEWED 1322552 IL36RN interleukin 36 receptor antagonist The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 2 2 q14 113532686 113538792 + 113816215 113822321 + 1580863;6480464 10512743;18484691;17975119;16978071;16918024;16211343;16189514;15815621;15489334;15231748;14702039;14644395;12975309;12477932;11991722;11841485;11574262;11466363;11278614;11145836;11093146;10866108;10860666;10744718;10625660;9169134;8188271;19913121;20628086;19023099;20141484;20237496;20379614;21242515;22903787;21839423;22315422;21965679;22325761;22862555;23303454 26525 C9JTH1;Q9UBH0 ABBA01074247;AC016724;AF186094;AF201830;AF216693;AF230377;AJ242737;AJ242738;AJ271338;AK002125;AK290249;AMYH01010967;AY359117;AY972853;BC000945;BC024747;BN000002;CH471217;NG_031864;NM_012275;NM_173170 AAF02757;AAF25210;AAF76981;AAF91274;AAH24747;AAQ89475;AAX59031;AAY14990;ABM81628;ABM84812;BAF82938;CAB59822;CAB59823;CAB67704;CAD29877;EAW73617;EAW73618;NP_036407;NP_775262;Q9UBH0 Hs.516301 1773397 D2S2806 FIL1;FIL1(DELTA);FIL1D;IL1F5;IL1HY1;IL1L1;IL1RP3;IL36RA;MGC29840;PSORP FIL1 delta;IL-1 delta;IL-1 related protein 3;IL-1-related protein 3;IL-1F5 (IL-1HY1, FIL1-delta, IL-1RP3, IL-1L1, IL-1-delta);IL-1HY1;IL-1L1;IL-1ra homolog 1;IL1F5 (Canonical product IL-1F5a);OTTHUMP00000162015;OTTHUMP00000203697;OTTHUMP00000203698;family of interleukin 1-delta;interleukin 1 family, member 5 (delta);interleukin 1, delta;interleukin-1 HY1;interleukin-1 delta;interleukin-1 family member 5;interleukin-1 receptor antagonist homolog 1;interleukin-1-like protein 1;interleukin-36 receptor antagonist protein APPROVED protein-coding ENSG00000136695 15561 16112 605507;614204 REVIEWED 1312498 IL4I1 interleukin 4 induced 1 This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding of flavin adenine dinucleotide (FAD) cofactor. The expression of this gene can be induced by interleukin 4 in B cells, however, expression of transcripts containing the first two exons of the upstream gene is found in other cell types. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 19 19 19 q13.3-q13.4 47262414 47302277 - 55084723 55124574 - 50392911 50432796 - 1580863;6480464;6907045 17356132;16029492;15489334;15340161;12975309;12477932;12446450;12031486;19436310;20683900;18029348;23355881 259307 M0QXY7;M0QYH9;M0QYW8;M0R1L1;M0R2S9;Q96RQ9 ABBA01032907;ABBA01032908;AC011452;AC118342;AF293462;AF293463;AJ880386;AJ880387;AJ880388;AJ880389;AMYH01009919;AY358933;BC026103;BC064378;BC090852;BC131625;BQ672052;CH471177;DQ079587;DQ079588;DQ079589;NG_021170;NM_001258017;NM_001258018;NM_152899;NM_172374;NR_047577 AAH64378;AAH90852;AAI31626;AAK73362;AAK73363;AAQ89292;AAZ32711;AAZ32712;AAZ32713;CAI54291;CAI54292;CAI54293;EAW52574;EAW52575;NP_001244946;NP_001244947;NP_690863;NP_758962;Q96RQ9 Hs.574492;Hs.741750 1645620;1681217;1776983;1792386;1792388;2145185;5017663 D19S998;NUP62;PMC150528P1;PMC150528P2;RH46521;RH71288;RH79668 FIG1;LAAO;LAO Fig-1 protein;IL4-induced protein 1;L-amino-acid oxidase;LAAO;LAO;hFIG1;interleukin four induced 1 APPROVED protein-coding ENSG00000104951 19094 17146 609742 REVIEWED 1343808 IL6RP1 interleukin 6 receptor pseudogene 1 9 9 9 q22.2 63278082 63279637 - 91883283 91884838 - 92843463 92845018 - 7579586;1889804 157916 ABBA01012833;AL161629;AMYH01021500;NG_002785;X79982 IL6RL1 APPROVED pseudo 6020 INFERRED 735615 IL4R interleukin 4 receptor This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 16 16 p12.1-p11.2 27232752 27283600 + 27325230 27376099 + 1358313;1580863;2317263;2317669;2317264;4890352;4889983;4889995;4889996;4890393;4890011;4889985;4890349;4890348;4890404;4890351;4890395;4890005;4890346;4890394;4890024;4890387;4890021;4890389;4890003;4890390;4890406;4889847;4890022;4890347;4889981;4890402;5128514;5128510;5128553;5128562;6480464;6484113;6907045;7240710;7207070;5131286;7207066;7207069 11164908;18798553;18758789;17942922;16917945;12165974;20861354;20404812;16313681;16890766;10807530;17170387;17586032;12133990;15479272;14712310;18954266;18425216;15564773;11709756;20868478;15161635;20002627;19770271;19380795;11398072;17703412;12508140;19395316;12940513;20953944;21251883;20605987;20623539;12171893;20811626;22317767;19548368 15298559;9070874;8124718;2307934;8266078;19594368;19590686;19573080;19559392;19555572;19544559;19527514;19515749;19508433;19505916;19479237;19470040;19447482;19421745;19420105;19414811;19408823;19382262;19332120;19279357;19264973;19263529;19258923;19131662;19117745;19109239;19074885;19028820;19019335;19011907;18974840;18957266;18936436;18931892;18927306;18849614;18818748;18813073;18809513;18781131;18774776;18773331;18715339;18691306;18676680;18674658;18636124;18633131;18632425;18628242;18625055;18610832;18610831;18576348;18547691;18538381;18448485;18433792;18389618;18263811;18179773;18095154;18031948;18006935;17988330;17901851;17900677;17889143;17823973;17714919;17688234;17627763;17600229;17548690;17536219;17523428;17444864;17420820;17362266;17315188;17303794;17291854;17284225;17258448;17257312;17209513;17201240;17179726;17152005;17143971;17121586;17115186;17091279;17083349;17045041;17006724;17001290;16961803;16950281;16938461;16914241;16867043;16842617;16757160;16750991;16699452;16681592;16646030;16640778;16625214;16613701;16600026;16551465;16538488;16503977;16403098;16387595;16313303;16280132;16264039;16226465;16189667;16184405;16100774;16046318;16024651;15981567;15969687;15842262;15737301;15733644;15712015;15661890;15660293;15566952;15526032;15521376;15497451;15367225;15361128;15356556;15194285;15170937;15122773;15057902;15021309;15007352;15007345;15005726;14984008;14745651;14615367;14523823;12973929;12960323;12900808;12897746;12871855;12753568;12748907;12743452;12594065;12558814;12477932;12459556;12454749;12442007;12422339;12420205;12401728;12242343;12207328;12133952;12115161;12100043;12082592;12047365;12047364;12020266;11991671;11922633;11811777;11801567;11786020;11773030;11714803;11678851;11544427;11528525;11513543;11491529;11354638;11285129;11233912;11035134;10856136;10809862;10677312;10652211;10590262;10493829;10421786;10390422;10369419;10358772;10341317;10233717;10219247;10201973;9761767;9697832;9670964;9620765;9545332;9515586;9392697;9190938;8954948;8916957;8910586;8891114;8804422;8624803;8609418;8599766;8266076;8222329;8125298;7775445;7721895;7538655;7518439;2278997;2114443;1679753;1617647;16169070;8816495;8101483;22369735;19170196;19531027;19625176;19641626;19657898;19674346;19683555;19692168;19729601;19739012;19773279;19773451;19783684;19819209;19862939;19863607;19956098;20040389;20072140;20085599;20128416;20163933;20176658;20213229;20219689;20237496;20298583;20299965;20378664;20394509;20416077;20417488;20424473;20444266;20452482;20453000;20459687;20484924;20503287;20517665;19860911;20140262;20568250;20703737;20716621;21054877;21061265;21070662;21071541;20729386;18243101;19913121;20536507;20603037;20603050;20628086;20654748;20673868;22441356;21536546;21489615;21362618;21729106;22045834;22376040;23066418;21211370;21734400;9651359;21906983;21913997;22059556;22764749;23543769;16344560;21733492;10486269;22170601;21497535;22087298;21918367;22261806;22075330;22098734;22355322;22119518;22541248;23480403;23217179;22997428;23383283;22484276;22705603;22633285;22891178;22902050 3566 B2RBY1;B4E076;H3BRH7;H3BSE7;H3BTD9;I3L4H7;I3L4W9;J9JII2;Q5FC08;Q9H185 AA838318;AB102798;ABBA01017154;ABBA01017155;ABBA01017156;AC004525;AC106739;AF421855;AJ293647;AJ293648;AJ293649;AJ293650;AJ293651;AJ293652;AJ293653;AJ293654;AK223591;AK303255;AK314863;AMYH01007404;BC110343;BC136365;BC151131;BX479288;CH471145;CS104810;DA492909;EF173858;NG_012086;NM_000418;NM_001257406;NM_001257407;NM_001257997;X52425 AAC23495;AAI36366;AAI51132;AAL12163;ABM53131;BAD89389;BAD97311;BAG37378;BAG64338;CAA36672;CAC20445;CAC20446;CAC20447;CAC20448;CAC20449;CAC20450;CAC20451;CAC20452;CAJ01243;EAW55750;NP_000409;NP_001244335;NP_001244336;NP_001244926;P24394 Hs.513457;Hs.742121 1644218;1743453;1794758;1797746;2130239;2174635 D16S3224;GDB:335754;IL4R_416;PMC55319P2;RH70830;SHGC-30149 CD124;IL-4RA;IL4RA IL-4 receptor subunit alpha;IL-4R subunit alpha;IL-4R-alpha;IL-4RA;IL4R nirs variant 1;OTTHUMP00000122506;interleukin 4 receptor alpha;interleukin-4 receptor alpha chain;interleukin-4 receptor subunit alpha APPROVED protein-coding ENSG00000077238 6015 00990 147050;147781;609423 REVIEWED 1346615 IL6STP1 interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1 17 17 p11 15616046 15629130 + 15686308 15694947 + 7736792;15754404 3573 ABBA01035673;ABBA01035674;ABBA01035675;AC015922;AMYH01008144;AMYH01008145;NG_002748 1687932;1689259;1743589;1744975;1797750 GDB:353576;GDB:592062;IL6ST_1708;RH47617;RH80845 IL6STP APPROVED pseudo 6022 INFERRED 736306 IL4 interleukin 4 The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 5 5 q31.1 132037272 132046267 + 132009678 132018370 + 1580863;1358745;2317286;2317291;2317300;2317264;2317290;2317270;2317271;2317285;2317673;2317265;2317261;2317263;2317267;2307059;2317296;2317282;2317284;5128511;5128554;5128558;4889866;5128564;5128500;5128546;5128548;5128555;4140459;5128502;5128515;5128557;5128560;5128562;5128506;5128559;5128550;5147902;6480464;6484113;6907045 9184650;18557728;18182309;16869003;17942922;18211752;20031157;19690449;18826099;9350645;12097255;19957810;18798553;10404069;17898087;17570971;18975780;18848347;21223590;20573437;21208219;21103062;7967345;21364926;21092162;20861649;20490462;20644177;21354484;20889544;21375458;20524005;20623539;21343358;20832364;21640045 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3565 D4HNR6;P05112;Q5FC01 AB102862;ABBA01068803;AC004039;AF043336;AF395008;AF465829;AM937235;AMYH01015616;BC066277;BC066278;BC067514;BC067515;BC070123;CD640452;CH471062;CS255762;EF173851;FB507239;FJ807883;HC679221;HH829894;M13982;M23442;NG_023252;NM_000589;NM_172348;X06750;X81851 AAA59149;AAA59150;AAC03537;AAH66277;AAH67514;AAH67515;AAH70123;AAK71324;ABM53124;ADD60204;BAD89396;CAA29925;CAA57444;CAJ75955;CAP72493;CAV32874;CBL86566;CBX32734;EAW62322;EAW62323;NP_000580;NP_758858;P05112 Hs.73917 1741263;1741265;1794600;1794746;1799790;1801760;1803252;1812080;1815140;1815398;1822584;1837186;1837988;1842028;2000612;2000614;2000616;2000618;2000620;2000622;2000624;2000626;2000628;2000630;2000632;2000634;2000636;2000638;2000640;2000642;2000644;2000646;2000648;2000650;2000652;2000654;2000656;2000658;2000660;2000662;2000664;2000666;2000668;2000670;2000672;2000674;2000676;2000678;2000680;2000682;2000684;2000686;2000688;2000690;2000692;2000694;2000696;2000698;2000700;2000702;2000704;2000706;2096328;2096330;2096332;2096334;2096336;2096338;2096340;2096342;2113802;5117304;5120203 ECD00749;ECD01760;ECD02519;ECD07045;ECD08604;ECD08735;ECD12380;ECD19759;ECD20165;ECD22217;GDB:180247;GDB:180248;GDB:207332;GDB:456299;IL4;PMC324417P1;PMC356970P2;REN71218;REN71219;REN71220;REN71221;REN71222;REN71223;REN71224;REN71225;REN71226;REN71227;REN71228;REN71229;REN71230;REN71231;REN71232;REN71233;REN71234;REN71235;REN71236;REN71237;REN71238;REN71239;REN71240;REN71241;REN71242;REN71243;REN71244;REN71245;REN71246;REN71247;REN71248;REN71249;REN71250;REN71251;REN71252;REN71253;REN71254;REN71255;REN71256;REN71257;REN71258;REN71259;REN71260;REN71261;REN71262;REN71263;REN71264;REN71265;stSG601440;stSG601441;stSG601442;stSG601443;stSG601444;stSG601445;stSG601446;stSG601447 BCGF-1;BCGF1;BSF-1;BSF1;IL-4;MGC79402 B cell growth factor 1;B-cell stimulatory factor 1;BSF-1;B_cell stimulatory factor 1;OTTHUMP00000066049;OTTHUMP00000066050;binetrakin;interleukin-4;lymphocyte stimulatory factor 1;pitrakinra APPROVED protein-coding ENSG00000113520 6014 00989 147780 REVIEWED 735921 IL5RA interleukin 5 receptor, alpha The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011] 3 3 p26-p24 3086421 3127031 - 3108008 3152058 - 1580863;5128626;5128622;5128619;5128621;5128627;5128617;5128618;5128614;5128623;5128625;6480464;6484113;6907045 16217591;11884474;15286446;12752323;10848907;17276963;16734609;20592918;10224351;20513521 22542470;1495999;17474147;1732409;19263529;19258923;19247692;19131662;19074885;19028820;18974840;18511572;18326494;18256354;17983872;17914408;17703412;17620072;17362254;17227823;16625214;16430207;16344560;12943658;12496276;12477932;12444155;12444154;12202242;12082592;11897983;11842302;11498591;11101310;10880230;10688814;9516124;9378992;8568239;8228251;7836416;7721873;1833065;1505961;1477296;1427903;7957082;19913121;20536507;20603037;20628086;20673868;19170670;19479237;19559392;19654410;19729601;20237496;20452482;20503287;10949031;10477722;20800603;20811626;20735756;23166209;23362303;21193198;21770429;21986312;21762978;22153509;22560479;22528658 3568 B3IU77;C9J3K8;C9J6C4;E7ERY4;Q01344;Q8NHV7 A24587;A26249;A26251;AB288089;AB288090;ABBA01020486;AC022002;AC024060;AK304256;AMYH01012945;AY642135;BC027599;BI520196;BX118481;CH471055;DB222974;DB229011;M75914;M96651;M96652;NG_029547;NM_000564;NM_001243099;NM_175724;NM_175725;NM_175726;NM_175727;NM_175728;U18373;X61176;X61178;X62156 AAA36110;AAA59151;AAA59152;AAH27599;AAT45457;BAG49561;BAG49562;BAG65122;CAA01731;CAA01793;CAA01794;CAA43483;CAA43485;CAA44081;EAW63879;EAW63880;EAW63881;EAW63882;EAW63883;EAW63884;NP_000555;NP_001230028;NP_783851;NP_783852;NP_783853;NP_783854;NP_783855;Q01344 Hs.68876 1797748;2121748;2130384;2150193 D3S4170;D3S4538;IL5RA_1995;SHGC-11976 CD125;CDw125;HSIL5R3;IL5R;MGC26560 CD125 antigen;IL-5 receptor subunit alpha;IL-5R subunit alpha;IL-5R-alpha;IL-5RA;OTTHUMP00000115257;OTTHUMP00000115373;OTTHUMP00000206892;OTTHUMP00000206893;OTTHUMP00000206894;OTTHUMP00000206895;OTTHUMP00000206896;OTTHUMP00000206919;interleukin 5 receptor type 3;interleukin-5 receptor alpha chain;interleukin-5 receptor alpha subunit;interleukin-5 receptor subunit alpha APPROVED protein-coding ENSG00000091181 6017 00998 147851 REVIEWED 730927 IL5 interleukin 5 (colony-stimulating factor, eosinophil) This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013] 5 5 q31.1 131905035 131907113 - 131877136 131879214 - 1580863;2307110;4890941;4890962;4890938;4890940;4890960;4890942;4890956;4890939;4890948;4145461;4890954;4890963;4890961;4889106;4890947;5128622;5687175;5687140;5687189;5687174;5687156;5687135;5687147;5687148;5687176;6480464;5687144;5687145;6484113;6907045;7241039;7241068;7240715;7241010 18222984;18519743;9493449;19947994;18629290;10934091;17986108;12765419;20858153;15502111;17074272;14975941;9182686;9712797;19151189;15626484;11884474;22299064;22186238;11159041;8757634;22293286;22230487;22035391;22018693;21912714;22085848;23054011;15368290;22665336;9697734 3024129;3498940;19578876;19573080;19533685;19527514;19486544;19419945;19379606;19360850;19336370;19299749;19258923;19247692;19222422;19200845;19180571;19168731;19152965;19131452;19050632;19019335;18996999;18925696;18849614;18844613;21323726;18818748;18772129;18712166;18687755;18676870;18633131;18519231;18395252;18383036;18273035;18206982;18056382;18028994;17845581;17703412;17690326;17623648;17620072;17620002;17581195;17567994;17517104;17362254;17015735;16922677;16879311;16596275;16556602;16449530;16243713;16236836;16036415;16001979;15964392;15951665;15935984;15845862;15842590;15826950;15826943;15805995;15802551;15713213;15549733;15534922;15528381;15489334;15367434;15271374;15155645;15007355;14634065;14630612;14581138;14564341;12915771;12910312;12851716;12771545;12759409;12581193;12575459;12534990;12525574;12477932;12444155;12393708;12366695;12354764;12202242;12097386;11897983;11877300;11842300;11830476;11763346;11101310;10973484;10880230;10753117;10417272;9136909;8892648;8483502;8438156;8419187;7721873;7534492;2824500;2823259;2563351;2361960;2037074;1833065;1732409;1698795;7957082;15735688;1495999;21418620;20650294;17628972;18686101;19141349;19198610;19478474;19698128;19773279;19773451;19840389;19845895;19860791;19914334;20237496;20332709;20403914;20418110;20452482;20453000;20503287;20523065;10477722;20568250;20952689;20943047;20561085;19913121;20530519;20628086;20673868;17438848;16929824;22962576;15220135;20636896;20825427;21235536;16722389;15563083;15835818;21849680;22805115;21168500;21609545;23306834;23382558;23401558;21986312;22153509;22528658;20047188;22092535;22541618;22710862;23306429;23128233 3567 C9JQP9;P05113 ABBA01068805;AC116366;AF353265;AMYH01015616;BC066279;BC066280;BC066281;BC066282;BC069137;CH471062;DQ655974;J02971;J03478;NG_033019;NM_000879;X04688;X12705;X12706 AAA74469;AAA98620;AAH66282;AAK19759;CAA28390;CAA31210;CAA31211;EAW62331;NP_000870;P05113 Hs.2247 1741619;1793186;1800450;1800452;1815314;1825820;1839896;1999512;1999514;1999516;1999518;1999520;1999522;1999524;1999526;1999528;1999530;1999532;1999534;1999536;1999538;1999540;1999542;1999544;1999546;1999548;2096150;2096152;2096154;2113800;2132512;2163616 D5S2473;ECD01085;ECD01086;ECD08693;ECD14018;ECD21131;GDB:181589;IL5;PMC199428P2;REN70668;REN70669;REN70670;REN70671;REN70672;REN70673;REN70674;REN70675;REN70676;REN70677;REN70678;REN70679;REN70680;REN70681;REN70682;REN70683;REN70684;REN70685;REN70686;RH18076;stSG601346;stSG601347;stSG601348 EDF;IL-5;TRF B cell differentiation factor I;B-cell differentiation factor I;OTTHUMP00000065830;T-cell replacing factor;eosinophil differentiation factor;interleukin-5 APPROVED protein-coding ENSG00000113525 6016 00997 147850 REVIEWED 736525 IL6R interleukin 6 receptor This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. A pseudogene of this gene is found on chromosome 9.[provided by RefSeq, May 2011] 1 1 q21 152644293 152706812 + 154377669 154441926 + 1625433;1625431;1625434;1625435;1625441;1625444;1625429;1625430;729416;1625428;1625432;1580863;5128666;5128632;5128675;5128662;5128631;5128630;5686834;5686839;6480464;6484113;6907045 17095650;14962155;16458979;16056242;12591161;12123772;17434052;16817825;2174054;12917504;11778537;16983050;20019339;20519054;17496315;20951753;21115736;22029668;21881215 21173340;21748280;12643274;12748171;2261637;12633863;12829785;12832423;16034137;18719127;10510402;15100312;12372336;11884403;19573080;19567438;19527514;19505916;19503017;19495883;19453261;19420002;19406470;19336475;19280716;19258923;19124510;19088723;19026125;19019335;18980999;18971377;18853133;18852330;18818748;18784373;18781131;18676680;18543249;18538149;18508242;18490707;18464913;18439548;18276608;18065760;17984249;17908769;17903307;17898129;17703412;17671508;17652155;17619842;17570254;17519976;17357077;17346257;17313958;17310346;17160948;16973585;16912152;16899024;16794539;16731080;16710414;16557588;16372246;16270750;16127269;15895091;15837717;15816827;15641051;15579373;15562008;15561970;15489334;15456942;15306846;15297310;15284182;15213442;15166129;15063602;15041717;14718574;14592826;14557255;12857602;12789531;12748876;12574959;12553555;12553038;12477932;12472176;12461182;12445803;12419823;12414855;12412787;12079407;12008038;12002769;11017875;10982829;10785334;10462375;10066782;9927325;9169421;8467812;8428753;8265649;8125298;8056053;3136546;2788034;2529343;2157217;2112585;1889804;1872801;1381187;1281789;17151125;8450224;15857508;22295972;19913121;20551110;20599261;20628086;20661738;20673868;20438838;20463041;15625895;18320358;19170196;19277666;19396608;19625176;19633828;19665805;19671870;19692168;19733878;19773279;19773451;19790045;19877065;19914334;19926672;19966016;20017315;20026129;20031577;20083667;20145925;20157327;20159251;20197062;20237496;20379614;20452482;20453000;20484876;20503287;20823887;20839491;19422646;19713205;20600579;20140262;20568250;20727736;20800603;20811626;20856253;20974296;20698883;21229891;21282511;8889549;21300955;21813064;21159831;10777583;20186139;23593036;21295508;21220034;21515913;21255427;22449275;22742541;22984080;22133618;23564454;22911828;21907864;21196890;21851175;23073775;21490132;21989726;21835044;21496483;21968316;22128229;21700295;21401300;21981268;22072558;21879314;21846873;22421339;22079540;22552503;22761857;22209080;22319020;23242610;22554704;23094986;22642608;23078005 3570 A0N0L5;D6R9R8;H0Y949;H0Y9B1;P08887 AA035377;ABBA01049484;ABBA01049485;ABBA01049486;ABBA01049487;AF104230;AK223582;AK293013;AK312730;AL162591;AMYH01001416;AMYH01001417;BC035327;BC089410;BC132684;BC132686;BM911928;CH471121;CS068586;EF064723;NG_012087;NM_000565;NM_001206866;NM_181359;S72848;X12830;X58298 AAC60635;AAH89410;AAI32685;AAI32687;ABK41906;ADR83189;ADR83368;BAD97302;BAF85702;BAG35601;CAA31312;CAA41231;CAI84624;EAW53199;EAW53200;EAW53201;NP_000556;NP_001193795;NP_852004;P08887 Hs.135087 1666271;1735020;1791696;1792396;1796108;1856645;2130719;2143327;5015404;5015861;5016478;5022200;5022578;5022651;5024413;5117046;5120552;7185938 D10S16;D11S2921;D1S1423;D1S1816E;D1S2375;GDB:353581;GDB:386402;GDB:434012;IL6R_1457;L17705;L17877;L18426;PMC119947P1;PMC150666P1;RH16347;RH69094;SHGC-34808 CD126;IL-6R-1;IL-6R-alpha;IL-6RA;IL6Q;IL6RA;IL6RQ;MGC104991;gp80 CD126 antigen;IL-6 receptor subunit alpha;IL-6R 1;IL-6R subunit alpha;IL-6RA;OTTHUMP00000034320;OTTHUMP00000217867;OTTHUMP00000217870;gp80;interleukin 6 receptor alpha subunit;interleukin-6 receptor subunit alpha;membrane glycoprotein 80 2314803 GLUCO119_H APPROVED protein-coding ENSG00000160712 6019 01000 147880;614689;614752 REVIEWED 731409 IL6ST interleukin 6 signal transducer (gp130, oncostatin M receptor) The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2010] 5 5 q11.2 55272451 55326520 - 55230923 55290821 - 737752;737751;1580863;1627571;1627572;1626687;1626706;1627046;1627568;1626686;1625428;1625432;5509945;5686834;5686839;5686900;6480464;6484113;6907045 12219085;10219240;14614900;14597225;8843746;15780071;15538938;15469886;17664290;12917504;11778537;20626857;22029668;21881215;18280048 15677447;15292206;12643274;12707266;14764690;2261637;8999038;8390097;12829785;17530315;10744750;12372336;19453261;19379608;19336475;19330911;19240061;19213859;19124510;19074885;19020503;18986700;18775332;18684959;18573283;18549508;18519587;18469182;18292582;18246092;18223637;18060032;17997171;17979974;17961593;17926108;17885560;17652155;17619842;17519976;17436251;17404609;17081983;17053039;17028186;16973585;16909117;16774741;16728717;16524883;16335952;16274960;16254248;16141642;15944400;15895091;15809742;15754404;15721840;15184896;15133123;15129430;15081423;14764685;14718574;14676217;14557255;14504285;12830005;12819039;12782602;12707269;12477932;12472176;12434062;12403768;12386808;12361954;12234945;12161539;12047380;12039911;12030375;11952536;11920233;11884403;11834704;11821958;11786531;11781191;11742534;11689697;11557047;11468294;11285233;11251120;11098061;10982829;10954742;10946280;10880057;10811661;10800945;10579793;10504396;10026196;9501088;9388212;9353320;9256256;9195977;9188471;9013873;8547494;8511589;8353278;7736792;2788034;1617725;9126968;19422646;19913121;20584990;20628086;20628624;20489211;16344560;16646038;11877042;16051226;18320358;19386761;19573080;19623024;19665497;19665805;19730683;19773279;19915009;20103703;20200229;20237496;20348091;20453842;20585009;20600579;20568250;20728947;20554759;21225514;20869059;21173340;21220115;21282511;10777583;11121117;22520363;23375201;20309664;22742541;22814105;20660911;19850743;21989726;21139048;21981268;22523320;22457856;23253440;23209286;23294003;23128233;23382691;23372742 3572 D6RH03;P40189;Q17RA0;Q5FC02;Q5FC05;Q5FC07 AB015706;AB074172;AB102799;AB102800;AB102801;AB102802;AB102803;AB102804;ABBA01015755;AC008857;AC008914;AC016596;AL049265;AMYH01015093;AW015107;BC071555;BC117402;BC117404;BC143842;BQ013034;CH471123;DA863210;DA877322;EF064722;M57230;NM_001190981;NM_002184;NM_175767;S80479;U58146;U70617 AAA59155;AAB35921;AAB63010;AAI17403;AAI17405;ABK41905;ADR83277;BAA78112;BAD89390;BAD89391;BAD89392;BAD89393;BAD89394;BAD89395;EAW54936;EAW54937;EAW54938;NP_001177910;NP_002175;NP_786943;P40189 Hs.532082;Hs.706627 1651398;1667826;1671642;1729573;1743589;1744975;1797750;2164565;2172402;2175651;5120550;7185890 D17S58;D5S2597;G24196;GDB:353575;GDB:353576;GDB:592062;IL6ST_1708;RH15643;RH15655;RH17700;SHGC-58193 CD130;CDw130;DKFZp564F053;GP130;GP130-RAPS;IL-6RB;IL6R-beta CD130 antigen;IL-6 receptor subunit beta;IL-6R subunit beta;IL-6R-beta;IL-6RB;IL6ST nirs variant 3;OTTHUMP00000122545;OTTHUMP00000221874;OTTHUMP00000221875;OTTHUMP00000232384;gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form;gp130 transducer chain;interleukin 6 signal transducer;interleukin receptor beta chain;interleukin-6 receptor subunit beta;interleukin-6 signal transducer;membrane glycoprotein 130;membrane glycoprotein gp130;oncostatin M receptor;oncostatin-M receptor subunit alpha APPROVED protein-coding ENSG00000134352 6021 02824 600694 REVIEWED 1343712 IL9RP1 interleukin 9 receptor pseudogene 1 9 9 q34.3 140151308 140158857 + 141032081 141036062 + 8666384;8666384 100128449;3582 ABBA01022796;AL591424;AMYH01021922;NG_030094 pseudo 6031 INFERRED 1352385 IL9RP2 interleukin 9 receptor pseudogene 2 10 10 10 p15.3 80149 86406 - 116327 122218 - 125916 132183 - 8666384 439945 ABBA01035279;AL713922;AMYH01001961;L39063;NG_009864 1340876;1743119;1843592;2046602;2046626 D10S2487;ECD23006;GDB:266648;REN94428;REN94441 FLJ40100 pseudo 6032 INFERRED 1320295 IL7R interleukin 7 receptor The protein encoded by this gene is a receptor for interleukine 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). [provided by RefSeq, Jul 2008] 5 5 p13 35892748 35912681 + 35856977 35879705 + 1600151;1580863;6480464;6907045;7240710 9843216 20304824;22312161;9495344;8266077;19349467;19253027;19240061;19239367;19231135;19141282;19096522;18847371;18774388;18721276;18687755;18676680;18633131;18563381;18390743;18390701;18354419;18292507;18272905;18025189;17956896;17928869;17909291;17894415;17660817;17660816;17660530;17609371;17591854;17579041;17554260;17504502;17442928;21190413;17363735;17173927;17079288;17045841;16951331;16837861;16818678;16818676;16709829;16614257;16435014;16357322;16075257;16004964;15947093;15879083;15728501;15674389;14726805;14607751;12792903;12477932;12354940;12149213;11858939;11728342;11418668;11023514;10702271;10485656;10390077;9850848;9215624;8709637;7515933;2317865;2038316;1634235;1378163;16967044;22695916;20638239;20812848;21300823;21536738;15996891;19011158;19170196;19494261;19505916;19506219;19523791;19525953;19525955;19605492;19625176;19626041;19667968;19690616;19692168;19714586;19744146;19798683;19834503;19865102;19866484;19874827;19879194;19940860;20035760;20060740;20072139;20072142;20097866;20112030;20167604;20190194;20194581;20219786;20226540;20237496;20368992;20378664;20379614;20424473;20466416;7481769;7522165;7719938;8647212;20815339;20187771;20539016;21131424;20800603;20952689;20962850;17207965;21326139;21159243;21287555;21399635;20450971;21244703;21297633;21209878;21481848;21670443;23151878;21680796;22247488;20404156;21920046;21562156;21625022;21904560;22021616;21211217;21543551;21892159;22310831;21757642;21839739;21161391;21987572;22302060;22824721;23329834;21938017;22329520;21740271;21129157;22145905;22262655;22471460;22640659;23069254;22425228;22661557;21833088;21863001;23157741;23610432;23000144;23301543;19147839;20660706;22914435 3575 B8YG18;D6RCR9;D6RDM4;D6RG28;D6RGV2;D9N160;H0Y8G3;H0YA41;Q6NWM3 AA485865;ABBA01024157;ABBA01024158;AC112204;AF043123;AF043129;AF373204;AK301220;AK315251;AL713738;AMYH01015024;AY449709;BC020717;BC067537;BC067538;BC067539;BC067540;BC069999;CD703890;CH471119;FJ529208;GN344075;M29696;NG_009567;NM_002185 AAA59157;AAC83204;AAH20717;AAH67537;AAH67538;AAH67539;AAH67540;AAH69999;AAR08908;ACL80333;ADQ31999;BAG37673;BAG62793;CAY55973;EAW55924;EAW55925;NP_002176;P16871 Hs.591742 1689314;1790309;1794312;1796110;2149387;2151940 DXS9737;IL7R;IL7R_1228;PMC311006P5;RH80968;STS-T65739 CD127;CDW127;IL-7R-alpha;IL7RA;ILRA CD127 antigen;IL-7 receptor subunit alpha;IL-7R subunit alpha;IL-7RA;OTTHUMP00000116000;OTTHUMP00000221223;interleukin 7 receptor alpha chain;interleukin 7 receptor isoform H5-6;interleukin-7 receptor subunit alpha APPROVED protein-coding ENSG00000168685 6024 00893 146661;608971 REVIEWED 1342838 IL9RP3 interleukin 9 receptor pseudogene 3 16 16 p13.3 18653 26548 - 78928 86491 - 8666384 729486 ABBA01030395;AMYH01006981;L39062;NG_009865;Z84723 1340876;1679125;1743117;1743119;1798836;1800552;1804066;1815084;1815804;1822374;1828240;1832764;1843592;2046586;2046588;2046590;2046592;2046594;2046596;2046598;2046600;2046602;2046604;2046606;2046608;2046610;2046612;2046614;2046616;2046618;2046620;2046622;2046624;2046626;2046628;2046630;2046632;2046634;2046636;2046638;2046640;2046642;2046644;2046646;2046648;2104318;2104320;2104322;2104324;2104326 D10S2487;ECD00258;ECD01137;ECD02950;ECD08575;ECD08942;ECD12275;ECD15245;ECD17523;ECD23006;GDB:266645;GDB:266648;REN94419;REN94420;REN94421;REN94422;REN94424;REN94425;REN94426;REN94427;REN94428;REN94429;REN94430;REN94431;REN94432;REN94433;REN94434;REN94435;REN94436;REN94437;REN94438;REN94439;REN94441;REN94442;REN94443;REN94444;REN94445;REN94446;REN94447;REN94448;REN94449;REN94450;REN94451;REN94452;RH69191;stSG608815;stSG608820;stSG608821;stSG608822;stSG608823 pseudo 6033 INFERRED 1352105 IL9RP4 interleukin 9 receptor pseudogene 4 18 18 p11.32 69829 77145 + 79721 88561 - 8666384 100132166 AMYH01008765;AP001005;NG_030061 pseudo 6034 INFERRED 1352582 IL6 interleukin 6 (interferon, beta 2) This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. [provided by RefSeq, Jun 2011] 7 7 p21 22733343 22738145 + 22766766 22771621 + 1580484;1580485;1580486;1580487;1580488;1580493;1601588;1601585;1601582;1580863;2307269;2306981;2307287;2307251;2307265;2307282;2306984;2307291;2307250;2307292;2307264;2307267;2307257;2307270;2307179;2307182;2307180;2307193;2307252;2307256;2307274;2307275;2307266;2307272;2307278;2307279;2307284;2308810;2307280;2307412;2307187;2307188;2307186;2307258;2307273;2307281;2307283;2307285;2307290;2307293;2307194;2307191;2317166;2317160;2317165;2317167;4143243;4143253;4142530;4143263;4143275;4143255;4143241;4143242;4143244;4143246;4143257;4143265;4143268;4143271;4143250;4143256;4140400;4143251;4143249;4143252;4143259;4143277;4143266;4142788;5128675;5128668;4891446;5128661;5128667;5128682;5128672;5128630;5128673;5686834;5686839;5147765;5686880;5131471;5490120;6480464;6484113;6907045;7240710;5134961;6907405 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3569 B4DNQ5;B4DNV3;B4DVM1;B5MC14;B5MC21;B5MCZ3;C9J5B0;P05231;Q75MH2 A09363;AA721478;AACC02000007;ABBA01056696;AC073072;AF372214;AK298013;AK298077;AK301141;AMYH01017107;BC015511;BT019748;BT019749;CH236948;CH471073;CR450296;CS352987;JA104583;M14584;M18403;M29150;M54894;NG_011640;NM_000600;S56892;X04402;X04403;X04430;X04602;Y00081 AAA52728;AAA52729;AAA59154;AAC41704;AAD13886;AAH15511;AAK48987;AAS07539;AAV38553;AAV38554;ABM82389;ABM85565;BAG60317;BAG60365;BAG62733;CAA00839;CAA27990;CAA27991;CAA28026;CAA28268;CAA68278;CAG29292;CAL23031;CCA63961;EAL24265;EAW93756;EAW93757;EAW93758;NP_000591;P05231 Hs.654458 1659879;1854660;2107225;2163011 D7S2743;IL6;IL6_3252.2;STS-M14584 BSF2;HGF;HSF;IFNB2;IL-6 B cell stimulatory factor-2;B-cell differentiation factor;B-cell stimulatory factor 2;BSF-2;CDF;CTL differentiation factor;IFN-beta-2;OTTHUMP00000158544;OTTHUMP00000198486;OTTHUMP00000198489;OTTHUMP00000198490;hybridoma growth factor;interferon beta-2;interleukin BSF-2;interleukin-6 1643391;1643402 BMD2_H;BW322_H APPROVED protein-coding ENSG00000136244 6018 00970 108010;125853;147620;148000;266600;604302 REVIEWED 1345788 ILDR2 immunoglobulin-like domain containing receptor 2 1 1 1 q24.1 139993130 140049695 - 165154620 165211185 - 166882441 166944561 - 6480464 19064610;16710414;19536175;20379614 387597 E9PLS0;E9PNU3;E9PPL0;E9PQC8;E9PR23;E9PRA4;Q71H61 ABBA01047254;ABBA01047255;ABBA01047256;ABBA01047257;AF503509;AL009182;AMYH01001480;CH471067;NM_199351 AAI48433;AAQ07593;EAW90779;NP_955383;Q71H61 Hs.444835 1667663;1676093;1690059;1696728;1789022;1789180;2130002;2132397;2180082 AL009949;D1S3032;G65589;G65644;RH71166;RH79638;RH98540;SHGC-77886;WI-15586 C1orf32;RP4-782G3.2;dJ782G3.1 LISCH-like;OTTHUMP00000032212;OTTHUMP00000235842;OTTHUMP00000235844;OTTHUMP00000235845;OTTHUMP00000235846;OTTHUMP00000235847;immunoglobulin-like domain-containing receptor 2 protein-coding 18131 12724 VALIDATED 7175936 ILF2P1 interleukin enhancer binding factor 2 pseudogene 1 3 65672931 65674332 + 100421506 ABBA01024300;AC099058;AMYH01013250;NG_025702;NG_029778 pseudo 44695 INFERRED 7176094 ILF2P2 interleukin enhancer binding factor 2 pseudogene 2 14 q13.2 36523203 36524597 - 644616 ABBA01061518;AL133304;AMYH01005671;NG_022839 1649661;2182552 1586;D14S1187 pseudo 44696 INFERRED 737457 IL7 interleukin 7 The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. This cytokine is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. Knockout studies in mice suggested that this cytokine plays an essential role in lymphoid cell survival. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed.[provided by RefSeq, Dec 2010] 8 8 q12-q13 79807560 79880313 - 79645007 79717758 - 1580863;6480464;727266;6907045 10078962 22312161;2643102;8266077;19432535;19366834;19299724;19279003;19258923;19248116;19240061;19230961;19155487;19141282;19092841;19008454;19002156;19001329;18949045;18441236;18431516;18401975;18390701;18322183;18289383;18158957;17956896;17913246;17909291;17894415;17703412;17665400;17656007;17635814;17584976;17524612;17438097;17373935;17328044;17296584;17284597;17110377;17053062;16923550;16709829;16626395;16344560;16322477;16284535;16162475;15993713;15964403;15911446;15598813;15489334;15353558;15247003;15226432;15133032;15048088;14978141;14607751;14601648;14530372;12882655;12847229;12816983;12792903;12742982;12477932;12441142;12433286;12427286;12149213;12072494;12027403;12010786;11929775;11927620;11858939;11672535;11564764;11447288;10850801;10390077;9561370;9493287;9475337;9407080;9215626;9200446;9010926;8862549;8840152;8473051;8125298;7769137;7686307;2786840;2329282;2320434;9158092;16967044;15630452;21418620;22398700;21159243;19913121;20386468;20628086;20465565;17205128;18976766;19147839;19675167;19714586;19770269;19796902;19847194;19864382;19889552;19904747;19923894;20035760;20089933;20131250;20167604;20190192;20190194;20200205;20226540;20237496;20503287;20546594;20815339;20673240;21048031;20067635;20505146;20382196;15028279;21239710;21257970;21209878;21680796;21647866;23053510;23325887;22859301;22795293;22949940;23129754;21455214;21753149;22027639;22247488;21920046;21876448;21795588;21988832;23157741;21711552;22113713;22194871;22384197;22618230;21912394;21832049;23018454;22897934;21833088;22921903;23244154;22955921;20660706;22911005;22506826;23160470 3574 A8K673;P13232;Q5FBX5;Q5FBY3;Q5FBY6 AB102879;AB102880;AB102882;AB102883;AB102885;AB102893;ABBA01004082;AC083837;AK226000;AK291538;AMYH01018814;AU136355;BC032487;BC047698;CD013923;CH471068;EF064721;GQ919059;J04156;M29053;NM_000880;NM_001199886;NM_001199887;NM_001199888 AAA59156;AAC63047;AAH47698;ABK41904;ACX53627;BAD89408;BAD89409;BAD89411;BAD89412;BAD89414;BAD89422;BAF84227;EAW87060;EAW87061;EAW87062;NP_000871;NP_001186815;NP_001186816;NP_001186817;P13232 Hs.591873 1647791;1674178;1688658;1741017;1796112;2136997;7185324 D8S1626;GDB:177377;IL7_159;RH93634;STS-J04156;STS-M29049 IL-7 IL7 nirs variant 6;OTTHUMP00000227044;OTTHUMP00000227046;interleukin-7 APPROVED protein-coding ENSG00000104432 6023 00892 146660 REVIEWED 735670 IL9R interleukin 9 receptor The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] X;Y X;Y q28 and Yq12 154880440 154893676 + 59330252 59343488 + 5128704;5128699;6480464;6907045 10629460;12782818 1376929;19401191;19258923;19139102;18829468;18633131;18339896;17919707;17703412;17083349;15621723;15591265;12477932;11868823;11588013;11418623;11160343;11039580;10657622;10655549;10642536;10486269;10329852;9535918;9002663;8756628;8666384;8193355;7718508;19692168;19723899;20424473;20452482;20503287;17207965;20595916;20673868;17192395;21371865;21988832;22638550 3581 I6L9D8;Q01113 ABBA01028635;AJ271736;AK303178;AMYH01023345;AY071830;BC025298;BC051337;CH471247;L39064;M84747;NG_013238;NM_002186;NM_176786;S71404;S71420 AAA58679;AAB30844;AAC29513;AAD14081;AAH51337;AAL55435;ADQ32195;BAG64273;CAB96817;EAW55884;EAW55885;EAW55886;NP_002177;NP_789743;Q01113 Hs.406228 1679125;5038428 ECD15020;RH69191 CD129;IL-9R IL-9 receptor;IL-9R;OTTHUMP00000024331;OTTHUMP00000024332;interleukin-9 receptor APPROVED protein-coding ENSG00000124334 6030 02052 300007 REVIEWED 1346718 ILF3L interleukin enhancer binding factor 3-like 7519613 3610 6039 735276 IL9 interleukin 9 The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008] 5 5 q31.1 135255834 135259415 - 135227935 135231516 - 1580863;5128699;5128684;5128700;5128694;5128702;5128689;5128686;5128687;5128683;5128685;5128690;5128696;5128691;5128692;5128707;6480464;6907045 12782818;20503287;12153980;15007348;11306428;15632004;17446528;20525149;21062445;19915054;15531759;14605067;15303135;15051283;21356110 8516290;9371819;1680606;19573080;19559392;19536153;19387455;19263529;19258923;19131662;19028820;19005922;18974840;18633131;18349591;18339896;18298822;18032114;17703412;17541281;17517104;17083349;16763206;16611254;16322282;15713213;15699153;15621723;15489334;15372022;15289339;15128795;14722888;12789235;12646606;12594054;12588703;12482498;12477932;12082592;11937570;11842292;11588013;11115404;10464327;8756628;8379467;7666875;7544789;2508790;2129501;1971295;1908723;1903074;1901233;15735688;21418620;21371865;19913121;20595916;20628086;20673868;20674401;19729601;19773279;19845895;20159257;20237496;20306823;20332709;20452482;20020328;20568250;20498357;21360526;20861646;21498517;15123239;22971662;21765905;21807780;22841205;22841206;21898141;23376058;23034251 3578 P15248;Q6NZ75 ABBA01068720;AC002428;AC004763;AF361105;AMYH01015630;BC066283;BC066284;BC066285;BC066286;BC066287;CH471062;M30134;M30135;M86593;NM_000590;S63356;X17543 AAA35887;AAA36400;AAA59161;AAB19823;AAB66904;AAC17735;AAH66283;AAH66284;AAH66285;AAH66286;AAH66287;AAK26666;CAA35581;EAW62204;NP_000581;P15248 Hs.960 1778294;1789332;2121662 G67882;GDB:180249;STS-M30134 HP40;IL-9;P40 OTTHUMP00000159423;T-cell growth factor p40;cytokine P40;homolog of mouse T cell and mast cell growth factor 40;interleukin-9;p40 T-cell and mast cell growth factor;p40 cytokine APPROVED protein-coding ENSG00000145839 6029 00910 146931 REVIEWED 1345686 IL8 interleukin 8 The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. [provided by RefSeq, Jul 2008] 4 4 q13-q21 74825139 74828297 + 74606223 74609433 + 1580863;5135034;5134999;6480464;6484113;6907045 20818377;20138139 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3576 C9J4T6;Q9UCR9 ABBA01022993;AC112518;AF385628;AJ227913;AK131067;AK311874;AMYH01014301;BC013615;BG497712;BT007067;CH471057;CR542151;D14283;HC462818;HI519526;M17017;M26383;M28130;NG_029889;NM_000584;Y00787;Z11686 AAA35611;AAA36323;AAA59158;AAA74722;AAH13615;AAK60276;AAP35730;ABM84653;ABM92181;BAA03245;BAG34815;CAA68742;CAA77745;CAG46948;CBK51144;CBX54344;EAX05687;EAX05688;EAX05689;NP_000575;P10145 Hs.624 1742201;1791502;1791844;1792200;1792742;1793544;1794536;1795146;1796116;2164598;2170302;2184461 G34435;GDB:193665;IL8_746;PMC111986P1;PMC127826P1;PMC139207P1;PMC16008P3;PMC229255P6;PMC316928P1;PMC99882P2;RH11083;SHGC-59849 CXCL8;GCP-1;GCP1;LECT;LUCT;LYNAP;MDNCF;MONAP;NAF;NAP-1;NAP1 C-X-C motif chemokine 8;OTTHUMP00000199824;OTTHUMP00000199825;T cell chemotactic factor;T-cell chemotactic factor;alveolar macrophage chemotactic factor I;beta endothelial cell-derived neutrophil activating peptide;beta-thromboglobulin-like protein;chemokine (C-X-C motif) ligand 8;emoctakin;granulocyte chemotactic protein 1;interleukin-8;lung giant cell carcinoma-derived chemotactic protein;lymphocyte derived neutrophil activating peptide;lymphocyte-derived neutrophil-activating factor;monocyte-derived neutrophil chemotactic factor;monocyte-derived neutrophil-activating peptide;neutrophil-activating peptide 1;small inducible cytokine subfamily B, member 8;tumor necrosis factor-induced gene 1 APPROVED protein-coding ENSG00000169429 6025 00909 146930 REVIEWED 1348957 ILDR1 immunoglobulin-like domain containing receptor 1 This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 3 3 3 q13.33 120115851 120150704 - 123188860 123223720 - 121706170 121741127 - 737633;1580863;6480464;7240710 12477932 14702039;15489334;15381095;20379614;15641023;21255762;22190364;22365942 286676 Q86SU0 ABBA01016473;AC080098;AK129974;AMYH01013428;AY134857;AY672837;AY672838;AY672839;BC044240;CH471052;NG_031870;NM_001199799;NM_001199800;NM_175924 AAH44240;AAN10256;AAT77412;AAT77413;AAT77414;BAC85264;EAW79495;NP_001186728;NP_001186729;NP_787120;Q86SU0 Hs.98484 1341381;1700260;2120531 D3S3720;G09825;RH103747 DFNB42;ILDR1alpha;ILDR1alpha';ILDR1beta;MGC50831 ILDR1alpha';OTTHUMP00000215507;OTTHUMP00000215508;OTTHUMP00000215509;OTTHUMP00000215510;deafness, autosomal recessive 42;immunoglobulin-like domain-containing receptor 1;immunoglobulin-like domain-containing receptor 1 alpha;immunoglobulin-like domain-containing receptor 1 alpha';immunoglobulin-like domain-containing receptor 1 beta APPROVED protein-coding ENSG00000145103 28741 13735 609646;609739 REVIEWED 6893050 ILF3-AS1 ILF3 antisense RNA 1 (head to head) 19 p13.2 10762538 10764548 - 12477932;16344560 147727 ABBA01029905;AC011475;AF439744;AK075016;AL832185;AMYH01009478;BC007593;BC014670;BC044911;DB002247;NG_029220;NR_024333 AAR01499 Hs.631616 5014029;5016478;5037552;5037554;5109281 D13S1639;D1S1425;D8S2279;D8S2282;GDB:434012 miscrna ENSG00000267100 27115 VALIDATED 1317496 ILVBL ilvB (bacterial acetolactate synthase)-like The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15121522 15132314 - 15086785 15097577 - 15225785 15236577 - 1580863;6480464 12477932;8954801;16169070;21145461;20562859;22939629;17314511;22990118;21139048;21890473;21988832;22678362;23246001;23275563;23455922;8889548 10994 A1L0T0;E9PJS0;E9PL44;E9PNL1;M0QZX5;M0R026;M0R1B5 AB209065;ABBA01051097;AC003956;AC004794;AMYH01009543;BC000109;BC011722;BC011761;BC126913;BM676342;CH471106;HY011076;NM_006844;U61263 A1L0T0;AAB94632;AAC50934;AAH00109;AAH11722;AAH11761;AAI26914;ADZ15565;BAD92302;EAW84464;NP_006835 Hs.78880 1654850;1665591;1734682;1767600;2109433;2147440;2159169;2170957;2175003;2175005;5016851 D19S647E;D19S686E;D19S825;D19S849;ILVBL_9207;RH12226;RH12349;RH48649;RH80031;SGC33062;WI-11575 209L8;AHAS;ILV2H;MGC1269;MGC19535 OTTHUMP00000230512;acetolactate synthase homolog;acetolactate synthase-like protein;ilvB-like protein APPROVED protein-coding ENSG00000105135 6041 16152 605770 REVIEWED 1313940 ILF2 interleukin enhancer binding factor 2 The protein encoded by this gene is the 45 kDa component of nuclear factor of activated T-cells (NFAT), a heterodimer of 45 kDa and 90 kDa proteins. NFAT is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The complex has been shown to repair DNA breaks by nonhomologous end joining and can also negatively regulate the microRNA processing pathway. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Jun 2012] 1 1 q21.3 151901138 151910103 - 153634264 153643504 - 1580863;6480464 7519613;10574923;9442054;11739746;11790298;18458058;16710414;16189514;16055709;15817156;15635413;15489334;14559993;12477932;12429849;11958450;11438540;11101529;10320367;8974006;8125298;21145461;21319273;11804788;16169070;17289661;17643375;18029348;19398578;19893574;20051514;20237496;20808282;17389650;19454010;21182205;22863883;20508642;16196087;20000738;12777385;21081666;21823664;21969602;22586326;12565831;19738201;20462248;21146485;21282530;21642987;21963094;22623428;22751105;23000965;23084401;23151878;23246001;23455922;23463506;23502783;18781797;20639865;21139048;21693764;21890473;21906983;21987572;22178446;17332742;21110914;19471022;22939629;21853274;22053931;22174317;22505724;22797925;23129811 3608 B4DY09;F4ZW62;Q12905;Q53FG3 ABBA01049443;AK223326;AK302214;AK310615;AK313364;AL592150;AL713889;AMYH01001405;AY099265;BC000382;BM800544;BX450311;CH471121;DC412988;HQ322261;HQ322262;NM_001267809;NM_004515;U10323 AAA20993;AAH00382;AAM45141;ABM82304;ABM85481;AEE02016;AEE02017;BAD97046;BAG36164;BAG63571;CAI18796;EAW53285;EAW53286;NP_001254738;NP_004506;Q12905 Hs.75117 1658995;1850402;1852281;2182131;2182552;5127053 A007E12;Cda0cg07;D14S1187;RH12842;RH70555;WI-15073 MGC8391;NF45;PRO3063 OTTHUMP00000035158;interleukin enhancer binding factor 2, 45kD;interleukin enhancer binding factor 2, 45kDa;interleukin enhancer-binding factor 2;nuclear factor of activated T-cells 45 kDa;nuclear factor of activated T-cells, 45-kDa APPROVED protein-coding ENSG00000143621 6037 04419 603181 REVIEWED 6481053 IMMP2L-IT1 IMMP2L intronic transcript 1 (non-protein coding) 100874335 AC073326 miscrna 41402 1601711 IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008] 11 11 11 p13 31601371 31678615 - 31410525 31487745 - 31453949 31531169 - 6480464 16554811;15814844;15489334;14702039;12477932;19913121;20628086 196294 E9PIG6;E9PNR7;E9PR99;H0YD09;Q96LU5 ABBA01060926;ABBA01060927;AC108456;AK057788;AK310496;AK311611;AL133295;AMYH01003476;BC023595;CH471064;NM_144981 AAH23595;BAB71573;CAC39221;EAW68239;EAW68240;NP_659418;Q96LU5 Hs.502223 1701144;1736993;5112205 D11S2721;RH102333;RH104200 FLJ25059;IMP1;IMP1-LIKE OTTHUMP00000232217;OTTHUMP00000232220;mitochondrial inner membrane protease subunit 1 APPROVED protein-coding ENSG00000148950 26317 08048 612323 PROVISIONAL 1345312 IMMTP1 inner membrane protein, mitochondrial (mitofilin) pseudogene 1 21 21 21 q22.3 31203079 31205715 - 44919689 44922711 - 46095445 46098082 - 10830953 54045 ABBA01074169;AL773602;AMYH01012297;NG_000919 IMMTP APPROVED pseudo 6048 INFERRED 731849 ILKAP integrin-linked kinase-associated serine/threonine phosphatase The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 232791584 232824882 - 238743782 238777063 - 239079043 239112324 - 1580863;2300344;6480464 16493410 11331582;17081983;15815621;15489334;14990992;14702039;12477932;11230166;9857069;19019082;18635968;21782789;22359512;21139048;21890473;22053931;23329845 80895 E9PC05;H7C2I8;Q9H0C8 ABBA01042603;AC016757;AK001043;AK055417;AL136850;AMYH01011603;AY024365;BC006576;BC035746;BC050422;CH471063;CR533533;FJ491380;FJ491381;HQ658059;HQ658060;NM_030768 AAH06576;AAK07736;AAY24336;ABM83726;ABM87046;ACE86849;ACE87536;ACL54845;ACL54846;AEI30977;AEI30978;BAG50851;CAB66784;CAG38564;EAW71145;EAW71146;NP_110395;Q9H0C8 Hs.92033 1854483;2115377;2140179;5014051 D2S1671E;D8S2278;RH45648;SHGC-52537 DKFZp434J2031;FLJ10181;ILKAP2;ILKAP3;MGC4846;PP2C-DELTA OTTHUMP00000164472;integrin-linked kinase associated phosphatase;integrin-linked kinase-associated serine/threonine phosphatase 2C;protein phosphatase 2c;protein phosphatase 2c, delta isozyme APPROVED protein-coding ENSG00000132323 15566 17147 REVIEWED 732855 ILK integrin-linked kinase This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 11 11 p15.4 6581540 6588677 + 6624964 6632101 + 1580863;633110;2301729;2302091;2301734;2301731;2301733;2300344;6480464;6907045 11304546;18336616;12629168;11448915;15704679;11704830;16493410 22570869;19074270;10871859;19489119;19478459;19334037;19147542;19118218;19118217;19020711;18823942;18813944;18773488;18660489;18635968;18505933;18464290;18339839;18327965;18283114;18252715;18214046;18080083;18037995;17951996;17656471;17646580;17575101;17563721;17553790;17498677;17468516;17420447;17353931;17335036;17298394;17213807;17187779;17143519;17107957;16951248;16936772;16818815;16799642;16648553;16611685;16517730;16421303;16407822;15905178;15882985;15867245;15802621;15722199;15565145;15489334;15467740;15313908;15304053;15284246;15073119;15044083;14749128;14679308;14555513;14551191;14500673;12960424;12925691;12884912;12778079;12771992;12686550;12665801;12654898;12642872;12600888;12477932;12432066;12372433;12220642;12176337;12167643;12164932;12152651;12149249;12060675;12020826;12020426;11931630;11856758;11724787;11696434;11694518;11546794;11445557;11402068;11331582;11331308;11313365;11278835;11078733;10712922;10601309;10022929;9737788;9736715;9366252;9177792;8538749;11825911;16189514;20495362;21928230;22340785;16987993;19153670;19409087;19463178;19541809;19567202;19633364;19676046;19885839;20005845;20091050;20113654;20164304;20232298;20305688;20460506;22683084;20493167;16712791;20857141;22666394;20546345;20827300;20725137;20838384;20838383;16836071;21196412;18727519;21084641;22568984;22310280;22938462;23027626;21035499;21278793;21521694;21621326;22490953;22638656;22863883;21339732;21719054;21778429;23739974;23748822;21680733;21941415;21828040;21601006;21351095;21643011;21177334;21234586;21900206;21347395;21639857;21688303;21987572;21139048;21890473;21906983;21939655;22345562;20625942;21553049;22194624;22441983;22482400;17526737;21145461;22658851;22677169;23065574;23186335;23455922;23667531;12670870;15340074;17088456;19117955;19738201;19829382;21602880;21963094;21988832;22763012;22939624;23000965;22053931;22767580 3611 B7Z1I0;B7Z418;E9PM54;E9PNR4;E9PQ27;E9PQ52;Q13418 AB209416;ABBA01028670;AC091564;AF244139;AJ404847;AK293474;AK296628;AK314843;AMYH01003367;BC001554;CB113885;CH471064;CR407673;CR749220;DC379936;DC380243;HY257434;NG_029702;NM_001014794;NM_001014795;NM_001278441;NM_001278442;NM_004517;U40282 AAC16892;AAF74449;AAH01554;ABM82098;ABM85281;BAD92653;BAH11516;BAH12404;CAB99253;CAG28601;CAH18077;EAW68688;EAW68689;EAW68690;NP_001014794;NP_001014795;NP_001265370;NP_001265371;NP_004508;Q13418 Hs.706355 1651801;1652942;1771151;2115101;2217488;5022200;5037552 A002C40;D8S2279;ILK_2854;L18426;RH12375;WI-12713;WI-22555 DKFZp686F1765;ILK-1;ILK-2;P59;p59ILK 59 kDa serine/threonine-protein kinase;ILK-1;OTTHUMP00000164591;OTTHUMP00000229991;OTTHUMP00000229995;OTTHUMP00000229996;integrin-linked kinase-2;integrin-linked protein kinase;p59ILK APPROVED protein-coding ENSG00000166333 6040 03842 602366 REVIEWED 2293175 IMPA1P inositol(myo)-1(or 4)-monophosphatase 1 pseudogene 8 8 8 q21.13 78521872 78544180 - 82680356 82705924 - 82516901 82539209 - 650747 ABBA01004052;AC090255;AMYH01018830;NG_007612 1770828;1770830;2148452;2173084 A005A44;AFMB315YG5;G20231;WI-11115 pseudo 33956 INFERRED 1350569 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q31 105115742 106014670 - 110090346 110989583 - 110303106 111202573 - 1580863;6480464 19058789;15814844;15489334;12853948;12690205;12477932;11254443;9847074;19240061;19546859;19401682;19734545;20379614;20398908;18029348;20877624;22948383 83943 A4D0S9;C9JQE1;C9JVB0;Q96T52 AACC02000002;AACC02000003;AACC02000004;ABBA01057861;ABBA01057862;ABBA01057863;ABBA01057864;ABBA01057865;ABBA01057866;AC003989;AC004142;AC005161;AC005166;AC006002;AC006392;AC006993;AC006997;AC073326;AC073980;AC092613;AC106866;AF359563;AK311968;AMYH01017848;AMYH01017849;AMYH01017850;AMYH01017851;AMYH01017852;AMYH01017853;AMYH01017854;AMYH01017855;AMYH01017856;AMYH01017857;AMYH01017858;BC008497;BQ012840;CH236947;CH471070;NG_030016;NM_001244606;NM_032549 AAH08497;AAK52905;AAS02043;AAS07432;AAS07496;AAS07497;AAS07528;BAG34907;EAL24378;EAW83444;EAW83445;EAW83446;EAW83447;NP_001231535;NP_115938;Q96T52 Hs.655722;Hs.731706 1337227;1649943;1651167;1664688;1666147;1670003;1675114;1682473;1700912;1706024;1707000;1707596;1713367;1753257;1777030;1778322;1789444;1789446;1789448;1789450;1789452;1789454;1847951;1850362;1853692;1855431;2119505;2127427;2132237;2133057;2146095;2146713;2166391;2171238;2173136;2173138;2178479;2187615;2190481;2190483;5107885;7185188 A001X05;AFM191yc5;AFM287vc9;D7S1516;D7S1559;D7S1763;D7S1881;D7S2056E;D7S2117E;D7S2860;D7S3150;D7S3151;D7S3152;D7S3153;D7S3154;D7S3155;G09356;G17137;G17180;G19737;GDB:1317184;GDB:1317798;GDB:1317800;GDB:1318264;HSC250;HSC251;L29655;RH104083;RH119538;RH12396;RH36064;RH36303;RH47469;RH47777;RH93111;SHGC-110126;SHGC-78648;SHGC-81001;SHGC-84610;STS-AA025228;WI-5281 IMP2;IMP2-LIKE IMP2 inner mitochondrial membrane protease-like;OTTHUMP00000207148;OTTHUMP00000207168;OTTHUMP00000207189;imp2 inner mitochondrial membrane protease-like (s. cerevisiae);inner mitochondrial membrane peptidase 2 like;mitochondrial inner membrane protease subunit 2 APPROVED protein-coding ENSG00000184903 14598 07297 605977 REVIEWED 731671 ILF3 interleukin enhancer binding factor 3, 90kDa This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein was first discovered to be a subunit of the nuclear factor of activated T-cells (NFAT); a transcription factor required for T-cell expression of interleukin 2. NFAT is a heterodimer of 45 kDa and 90 kDa proteins, the larger of which is the product of this gene. These proteins have been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth; possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] 19 19 p13.2 10625988 10664095 + 10764937 10803095 + 1580863;6480464 7519613;10574923;9442054;11739746;8885239;18029348;10400669;19116932;18490444;18458058;18337511;18097023;18039850;17565699;17125513;17081983;16964243;16189514;16094384;16055709;15811368;15782174;15635413;15489334;15302935;15254228;14702039;14654356;14570900;12946349;12504009;12477932;12429849;11958450;11777942;11438540;11438536;11167023;11161820;10749851;10684936;10607473;10320367;9843854;9620363;9110174;8889548;8619474;1438302;16169070;11850402;22442257;21145461;21319273;22889411;21468600;19913121;20628086;21628590;17220478;17289661;17643375;19398578;19494010;19710015;20051514;20668518;12704081;19454010;17332742;17389650;20508642;21364984;21386893;21347509;21252943;22939629;12777385;15303970;16196087;17765891;19135240;20360068;21081666;21811582;21969602;21987769;18457437;18781797;21971700;21139048;21549307;21554248;21890473;21906983;17620599;15576338;15851029;19893574;12565831;19738201;21282530;21642987;21963094;22365833;22623428;22751105;23000965;23084401;23117626;23151878;23246001;23251661;21853274;22174317;22505724;22797925;22952844 3609 K7EJ09;K7EKJ9;K7EKY0;K7ELV3;K7EM82;K7EMZ8;K7ENK6;K7EPG3;K7EQ75;K7EQR9;K7ER69;K7ERM6;Q9UNA2 AB209062;ABBA01029902;ABBA01029903;ABBA01029904;ABBA01029905;AC011475;AF007140;AF141870;AF147209;AF167569;AF167570;AF202445;AF320244;AF320247;AJ271741;AJ271744;AJ271745;AJ271746;AK000018;AK023222;AK025821;AK291205;AK291617;AK293170;AK294084;AL832528;AMYH01009478;AMYH01009479;AW576353;AY240961;BC001770;BC003086;BC014221;BC018633;BC048314;BC064836;BM973331;CH471106;CR457223;DC320902;HQ322263;HQ322264;HQ322265;NG_029220;NM_001137673;NM_004516;NM_012218;NM_017620;NM_153464;U10324;X98264;X98265 AAA20994;AAC19152;AAD33966;AAD37575;AAD51098;AAD51099;AAF82685;AAF82686;AAF82687;AAH48314;AAH64836;AAK07424;AAK07425;AAP68989;AEE02018;AEE02019;AEE02020;BAA90887;BAB15245;BAD92299;BAF83894;BAF84306;BAG56714;BAG57425;CAA66917;CAA66918;CAC01121;CAC01122;CAC01123;CAC01124;CAC01404;CAC01405;CAC01406;CAG33504;EAW84131;EAW84132;EAW84133;EAW84134;EAW84135;EAW84136;EAW84137;NP_001131145;NP_004507;NP_036350;NP_060090;NP_703194;Q12906 Hs.465885 1685143;1703670;1740871;1749989;2111506;2138509;2139812;2163297;2163299;2166961;2191403 A006U48;D19S1141;D20S1081;D20S1086;MARC_21355-21356:1023203034:1;RH17990;RH80501;SHGC-111693;SHGC-78821;WI-14147;WI-19631 CBTF;DRBF;DRBP76;MMP4;MPHOSPH4;MPP4;NF-AT-90;NF110;NF110b;NF90;NF90a;NF90b;NFAR;NFAR-1;NFAR2;TCP110;TCP80 M-phase phosphoprotein 4;double-stranded RNA-binding protein 76;double-stranded RNA-binding protein, 76 kD;dsRNA binding protein NFAR-2/MPP4;interleukin enhancer binding factor 3;interleukin enhancer-binding factor 3;nuclear factor associated with dsRNA;nuclear factor of activated T-cells 90 kDa;nuclear factor of activated T-cells, 90 kD;translational control protein 80 APPROVED protein-coding ENSG00000129351 6038 04420 603182 REVIEWED 1605062 IMPACT impact RWD domain protein 18 18 18 q11.2-q12.1 18821663 18848543 + 20260680 20287490 + 22006609 22033495 + 6480464 15937339;15871461;15752730;12477932;11244491;11116084;20237496;20648630;21139048;21906983;22404850 55364 J3KT25;J3QLU6;J3QQU0;J3QRS6;Q9P2X3 AB026264;ABBA01022610;AC007922;AF208694;AF232229;AK292533;AK312727;AMYH01008892;BC034016;BC036074;BP384088;CH471088;GM959946;HB883439;HC940848;NM_018439 AAG23917;AAG35736;AAH34016;AAH36074;ABM84067;ABW03572;BAA95160;BAF85222;CAV24109;CBF65942;CBU90814;EAX01184;EAX01185;EAX01186;EAX01187;EAX01188;NP_060909;Q9P2X3 Hs.515317 2137611;2153801;5124764 RH81003;STS-AA018822;STS-W37416 MGC33718;RWDD5 Impact homolog;OTTHUMP00000162779;RWD domain containing 5;imprinted and ancient gene protein homolog;protein IMPACT APPROVED protein-coding ENSG00000154059 20387 13739 615319 VALIDATED 1605599 IMP4 IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) IMP4 forms a ternary complex with IMP3 (MIM 612980) and MPP10 (MPHOSPHO10; MIM 605503) that interacts with U3 small nucleolar RNA (snoRNA), which is required for the early cleavage steps in pre-rRNA processing (Granneman et al., 2003 [PubMed 12655004]).[supplied by OMIM, Aug 2009] 2 2 2 q21.1 124373830 124377539 + 130816959 130820667 + 131100489 131104197 + 6480464;6907045 12655004;15815621;15635413;15489334;14565981;12477932;11790298;9110174;8619474;21832049;21139048;21890473;21906983 92856 B8ZZ47;B9A008;E7ENR5;F8WCN0;H0Y714;Q3ZTT3;Q96G21 ABBA01017957;AC132479;AF054996;AK289878;AK292345;AK312808;AMYH01011053;AY364245;BC010042;CH471263;NM_033416 AAH10042;AAQ76804;AAY24076;ABM87593;ABW03901;BAF82567;BAF85034;BAG35666;EAW55613;EAW55614;EAW55615;EAW55616;NP_219484;Q96G21 Hs.91579 BXDC4;MGC19606 OTTHUMP00000162395;OTTHUMP00000204519;OTTHUMP00000204520;OTTHUMP00000204521;OTTHUMP00000204523;U3 small nucleolar ribonucleoprotein protein IMP4;U3 snoRNP protein 4 homolog;U3 snoRNP protein IMP4;brix domain-containing protein 4 APPROVED protein-coding ENSG00000136718 30856 10002 612981 PROVISIONAL 1602426 IMPDH1P1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 9 9 9 p13.3 34064527 34066862 - 34122461 34124689 - 34132457 34134793 - 340499 ABBA01065021;AL354989;AMYH01019333;NG_005146 2108795 IMPDH1__6462.2 bA537H15.4 pseudo 19912 INFERRED 6480991 IMPDH1P10 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10 2 202002242 202003725 - 100874399 ABBA01062535;AC007283;AMYH01011402;NG_032196 pseudo 33965 INFERRED 1321729 IMMT inner membrane protein, mitochondrial 2 2 p11.2 86224566 86276404 - 86371055 86422893 - 1580863;6480464 14667819;16169070;17043677;9168817;17624330;16713569;15647377;15489334;15383276;12477932;12469345;11239393;10830953;8889549;8889548;8125298;8039717;1602151;14623284;19615732;20562859;20880836;19762472;20877624;22990118;21163940;22939629;20186120;22228767;22360420;22318606;22354994;22586326;21252943;15840729;21900206;22114354;21139048;21890473;21906983;23058921;9184228 10989 B9A067;C9J406;D6RAW4;H7C463;Q7Z3X1 ABBA01075772;ABBA01075773;ABBA01075774;ABBA01075775;AC009309;AF148646;AK225780;AK296676;AK299014;AK299596;AK300017;AK304197;AK309004;AK312251;AMYH01010498;AY232292;AY921637;BC002412;BC005983;BC027458;BC107419;BU729109;BX537369;CH471053;CR456793;CR749590;D21091;D21092;D21093;D21094;DC403234;L42572;NM_001100169;NM_001100170;NM_006839 AAA85336;AAF73126;AAH02412;AAH05983;AAH27458;AAI07420;AAP69987;AAX10024;ACE86478;ACE87159;BAA04653;BAA04654;BAA04655;BAA04656;BAG35183;BAG59273;BAG61094;BAG61528;BAG61832;BAG65077;CAD97612;CAG33074;CAH18389;EAW99462;EAW99463;NP_001093639;NP_001093640;NP_006830;Q16891 Hs.148559 1666368;1725753;1847129;1851967;2217492 D2S2583;G62066;IMMT_3782;RH17386;WI-11380 DKFZp779P1653;HMP;MGC111146;MINOS2;P87;P87/89;P89;PIG4;PIG52 OTTHUMP00000203278;OTTHUMP00000203279;OTTHUMP00000203280;OTTHUMP00000209559;OTTHUMP00000209560;OTTHUMP00000225436;cell proliferation-inducing gene 4/52 protein;cell proliferation-inducing protein 52;mitochondrial inner membrane organizing system 2;mitochondrial inner membrane protein;mitofilin;motor protein;proliferation-inducing gene 4 APPROVED protein-coding ENSG00000132305 6047 02658 600378 VALIDATED 2289751 IMPDH1P2 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2 X X X p11.4 44356819 44359171 - 40102543 40105026 - 40217710 40220062 - 402394 ABBA01046822;AC091807;AMYH01022224;NG_005150 pseudo 33957 INFERRED 2289880 IMPDH1P3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3 7 7 7 q33 132864001 132866348 + 137775873 137778325 + 138125338 138127685 + 136307 AACC02000025;ABBA01001166;AC008265;AC025593;AMYH01017969;CH236950;NG_005144 2142565 GDB:3754164 pseudo 33958 INFERRED 2289774 IMPDH1P4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4 X X X p11.3 47278784 47280317 - 43021455 43023954 - 43136625 43139011 - 139334 AL022158;AL591587;AMYH01022238;NG_005145 pseudo 33959 INFERRED 2289873 IMPDH1P5 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5 10 10 10 q22.3 72825983 72828343 - 79209259 79211739 - 79539353 79541713 - 23251661 340780 ABBA01020229;AL450306;AMYH01002850;NG_005147 1683513 RH99299 pseudo 33960 INFERRED 2289759 IMPDH1P6 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6 8 8 8 q24.13 120600421 120602714 + 124481903 124484336 + 124412762 124415055 + 392267 ABBA01037874;AC021305;AMYH01019004;NG_005149 1764891 SHGC-148449 pseudo 33961 INFERRED 2289772 IMPDH1P7 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7 2 2 2 q32.1 181462073 181464412 - 187574011 187576452 - 187865866 187868205 - 391467 ABBA01062346;AC018735;AMYH01011337;NG_005148 pseudo 33962 INFERRED 2289738 IMPDH1P8 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8 3 3 3 p25.1 15858415 15860760 + 15894455 15896918 + 15919457 15921802 + 131961 ABBA01025135;AC090945;AMYH01013002;NG_005143 2108795 IMPDH1__6462.2 pseudo 33963 INFERRED 1603038 IMPAD1 inositol monophosphatase domain containing 1 This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011] 8 8 8 q12.1 53861222 53897192 - 58033042 58068981 - 57870488 57906430 - 6480464 18029348;14702039;12754519;12477932;21549340;18695242;22939629;21139048;21906983;22887726 54928 H0YB38;H0YBS3;Q9NX62 ABBA01041774;AC032027;AI095394;AK000428;AK090988;AMYH01018736;AY032885;BC017797;BC067814;BI601447;CH471068;NG_031926;NM_017813 AAH17797;AAH67814;AAK52336;BAA91158;BAC03563;EAW86789;EAW86790;EAW86791;NP_060283;Q9NX62 Hs.438689 2129440;2145708;5015961;5022322 D11S2560;D15S1477;RH11930;RH36216 FLJ20421;GPAPP;IMP 3;IMP-3;IMPA3 Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase;IMP 3;IMPase 3;OTTHUMP00000226649;golgi-resident PAP phosphatase;inositol monophosphatase 3;inositol monophosphatase domain-containing protein 1;inositol-1(or 4)-monophosphatase 3;myo-inositol monophosphatase A3 APPROVED protein-coding ENSG00000104331 26019 06531 614010;614078 REVIEWED 2289745 IMPDH1P9 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9 6 6 6 p22.3 19604138 19606840 - 18474126 18476956 - 18366247 18368948 - 441132 ABBA01022236;AL138725;AMYH01016124;NG_005151 pseudo 33964 INFERRED 1347157 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011] 18 18 p11.2 11971455 12020876 + 11981427 12030885 + 1580863;6480269;6480265;6480267;6480266;6480464;6907045 11673796;9322233;14699425;11317223 17434096;17388992;17340635;17251911;17068342;15557493;15505643;15489334;14624008;12477932;10822344;8889548;10822345;20800640;16169070;19066393;19910543;20398908;20153384;21213002;21900206;21139048;21890473 3613 K7EIH6;K7EII9;K7EL65;K7ELF8;O14732;Q6PIP6 ABBA01074008;ABBA01074009;AF014398;AF025880;AF025882;AF025884;AF025886;AF085628;AF085630;AF085632;AF157102;AF200432;AMYH01008820;AMYH01008821;AP001269;AP001542;BC017176;BC031560;BE219864;BT007061;CF134610;CH471113;CQ964657;EF444990;NG_028104;NM_014214 AAB70915;AAD22135;AAD22136;AAD22137;AAD22138;AAD22139;AAD22140;AAD22141;AAD40683;AAF07824;AAH17176;AAH31560;AAP35710;ACA06007;ACA06008;CAI30710;EAX01558;EAX01559;EAX01560;NP_055029;O14732 Hs.743311 1658056;1854109;2107227;2149574;5017170;5020948;5024761;5037552 A006N05;D18S1066;D8S2279;G35510;IMPA2__6460;L29953;RH36905;RH64924 IMP 2;IMPase 2;OTTHUMP00000162474;inosine monophosphatase 2;inositol monophosphatase 2;inositol monophosphatase 2 variant 1;inositol monophosphatase 2 variant 2;inositol-1(or 4)-monophosphatase 2;myo-inositol monophosphatase A2 APPROVED protein-coding ENSG00000141401 6051 09329 605922 REVIEWED 737559 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 This gene encodes an enyzme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Nov 2009] 8 8 q21.13-q21.3 82732751 82761115 - 82569151 82598589 - 1300048;1580863;6480464;6907045 1377913;17068342;16344560;16189514;15489334;15342556;14699425;12477932;12176979;11959401;11911470;11281967;9339367;9210592;8718889;8068621;8068620;6253491;1332026;21965294;20153384;17207965;19447967;23027737;18029348;21139048;21890473;21906983;19322201;21963094;23535730 3612 E5RG13;E5RG94;E5RGY4;E5RHE9;E5RI82;E5RIF4;E5RIP7;H0YBL1;P29218 ABBA01004051;AC090255;AF042729;AI921211;AK297078;AK300750;AK312823;AMYH01018830;BC008381;BC009565;BP270804;CH471068;DB299262;DC375686;NG_015829;NM_001144878;NM_001144879;NM_005536;X66922;Y11360;Y11361;Y11362;Y11363;Y11364;Y11365;Y11366;Y11367 AAB97468;AAH08381;AAH09565;ADQ31614;BAG35680;BAG59595;BAH13340;CAA47359;CAA72195;EAW87095;EAW87096;EAW87097;EAW87098;EAW87099;EAW87100;NP_001138350;NP_001138351;NP_005527;P29218 Hs.656694 1681048;2114966;2170701 D8S1976;RH91172;SGC35843 IMP;IMPA IMP 1;IMPase 1;OTTHUMP00000227203;OTTHUMP00000227204;OTTHUMP00000227205;OTTHUMP00000227206;OTTHUMP00000227207;OTTHUMP00000227209;OTTHUMP00000227619;inositol (myo)-1(or 4)-monophosphatase 1;inositol monophosphatase 1;inositol-1(or 4)-monophosphatase 1;lithium-sensitive myo-inositol monophosphatase A1 APPROVED protein-coding 6050 03641 602064 REVIEWED 1315660 IMP3 IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008] 15 15 q24 73718491 73719650 - 75931426 75932664 - 6480464;6907045 22431320;22012575;12655004;16381901;16344560;16189514;15635413;15489336;15489334;14702039;12477932;11790298;11543634;11256614;11230166;11076863;8889548;8125298;8012384;7566098;21469424;19426599;19449140;19467694;19620937;19672661;19695680;20562850;20591150;20382408;16712791;22266872;22859271;21566519;21566520;21497449;21809994;22166630;21757716;21997684;21436679;21917080;23226335;23473990;21139048;23079206;23190601;19060904;21963094;23000965;23108021;22495359;22497850;22505724;23539627 55272 Q9NV31 AA365493;AB051628;ABBA01060538;AC105020;AK001830;AK223121;AL136913;AMYH01006819;AY050497;BC006487;BC011745;BC020557;BM970419;CB141947;CH471136;DA375950;NM_018285;Z55621;Z55622 AAH06487;AAH11745;AAL06639;BAA91929;BAB54955;BAD96841;CAB66847;CAL38460;EAW99244;NP_060755;Q9NV31 Hs.513043 1736508;1777526 D15S715E;STS-W73226 BRMS2;C15orf12;DKFZp586L0118;FLJ10968;MRPS4 OTTHUMP00000183524;U3 small nucleolar ribonucleoprotein protein IMP3;U3 snoRNP protein 3 homolog;U3 snoRNP protein IMP3;chromosome 15 open reading frame 12 APPROVED protein-coding 14497 12664 612980 REVIEWED 1353295 IMPDH1P11 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11 16 16 16 p13.2 10373103 10383349 + 10112721 10114536 + 10205166 10207447 + 12477932;7905856 727833 ABBA01006782;AC133565;AMYH01007147;BC127892;L19709;NG_001152;NG_011812 Hs.647352 IMPDH1;IMPDHL1 pseudo 6054 INFERRED 1348827 IMPG2 interphotoreceptor matrix proteoglycan 2 The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011] 3 3 3 q12.2-q12.3 99336927 99431029 - 102427978 102522109 - 100941390 101039419 - 6480464;7240710 21697133;10702256;10542133;12477932;20673862;8889548;11726612;20301590 50939 F1T0J3;Q9BZV3 AB593127;ABBA01061779;AC068764;AC093008;AF157624;AF173155;AF271379;AF319972;AL713046;AMYH01013359;AW963481;BC144092;BM671068;BX953286;CH471052;NG_028284;NM_016247 AAF06999;AAF13154;AAG49889;AAI56203;AAI56946;AAK63222;BAJ84067;EAW79803;NP_057331;Q9BZV3 Hs.209249 1723115;1856362;2157364;2183407;5024761 D3S2486;RH123743;RH36905;RH47629;RH68818 IPM200;RP56;SPACRCAN IPM 200;OTTHUMP00000214052;interphotoreceptor matrix proteoglycan 2;interphotoreceptor matrix proteoglycan 200;interphotoreceptor matrix proteoglycan IPM 200;interphotoreceptor matrix proteoglycan of 200 kDa;sialoprotein associated with cones and rods proteoglycan APPROVED protein-coding 18362 06135 607056;613581 REVIEWED 1352807 IMPG1 interphotoreceptor matrix proteoglycan 1 6 6 q14.2-q15 76687782 76839055 - 76631062 76782335 - 1580863;6480464 14574404;9691169;16354621;15489334;14691150;12477932;10601738;9813076;9719680;9719369;20201926;20379614 3617 Q17R60;Q5JSC4;Q68D53 ABBA01040369;ABBA01040370;ABBA01040371;AF017776;AF047492;AL356962;AL392166;AMYH01016440;AMYH01016441;AMYH01016442;BC117450;BC117452;CH471051;CR749572;NM_001563 AAC03789;AAC68835;AAI17451;AAI17453;ADR83115;CAH18367;EAW48725;EAW48726;EAW48727;NP_001554;Q17R60 Hs.590893 1699672 RH103441 GP147;IPM150;SPACR IPM-150;OTTHUMP00000016767;interphotoreceptor matrix proteoglycan 1;interphotoreceptor matrix proteoglycan of 150 kDa;sialoprotein associated with cones and rods protein-coding ENSG00000112706 6055 04186 602870 PROVISIONAL 1604452 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 17 17 17 p13.2 4906240 4915716 - 4832149 4841629 - 4891425 4900905 - 6480464 12477932;18756329;15159402;15800920;16148011;21750715;18029348;21540187;23251661 388324 Q0VD86 ABBA01054787;ABBA01054788;AC004771;AMYH01008044;AY601906;AY601907;AY604176;BC119781;BC122873;NM_001167985;NM_001167986;NM_001167987;NM_213726 AAI19782;AAI22874;AAT09152;AAT09153;AAT36739;NP_001161457;NP_001161458;NP_001161459;NP_998891;Q0VD86 Hs.658926 1736953;2175334 D17S1580;WI-14953 HSD45;MGC148150;MGC148151 protein INCA1 protein-coding ENSG00000196388 32224 17150 VALIDATED 1322388 IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 7 7 q31.3-q32 127819567 127837272 - 128032331 128050036 - 1599608;1580863;5144133;5144136;5144221;5144134;6480464;6907045;7240710 11875050;18295529;14981049;11875049;18385099 7903306;1969416;18974094;18552984;18295591;17851563;17713475;17001353;16936083;16384941;16344560;16272056;16214101;16038673;15851576;15489334;15465556;15028279;14702039;12690205;12477932;9020170;8513324;7896827;7896275;7814030;7763314;7635473;2902093;1356621;14766016;1574589;20045992;20061166;20238028;20136638;20801516;20649757;20679962;20718729;22863883;22939629;21791244;21139048;21890473;21906983;16236267;22183375;22301190;20301590;21963094;21988832 3614 B3KRZ3;C9J029;C9J381;C9JV30;C9K0R9;E7EQS0;F8WDE9;H7C511;H7C5T1 ABBA01057673;ABBA01057674;ABBA01057675;AC010655;AK054640;AK054667;AK092452;AK122994;AK131294;AK293413;AK297943;AMYH01017917;AMYH01017918;BC033622;BX406207;CD014008;CD014010;CH236947;CH471070;CR933672;DA566139;DA980797;DC299597;DC326380;J05272;NG_009194;NM_000883;NM_001102605;NM_001142573;NM_001142574;NM_001142575;NM_001142576;NM_183243 AAA36114;AAH33622;BAB70780;BAD18464;BAG51409;BAG52555;BAG53840;BAG56920;BAG60259;CAI45968;EAL24310;EAL24311;EAW83649;EAW83650;EAW83651;EAW83652;EAW83653;NP_000874;NP_001096075;NP_001136045;NP_001136046;NP_001136047;NP_001136048;NP_899066;P20839 Hs.654401 1338527;2108795;2114465;2166789;2177005;7183812 D7S480;D7S514;IMPDH1;IMPDH1__6462.2;STS-AA035276;STS-R52542 DKFZp781N0678;IMPD;IMPD1;LCA11;RP10;sWSS2608 IMP (inosine monophosphate) dehydrogenase 1;IMP dehydrogenase 1;IMPD 1;IMPDH 1;IMPDH-I;OTTHUMP00000212379;OTTHUMP00000212380;OTTHUMP00000212381;OTTHUMP00000212382;OTTHUMP00000212385;OTTHUMP00000212386;OTTHUMP00000212390;inosine-5'-monophosphate dehydrogenase 1 APPROVED protein-coding ENSG00000106348 6052 08853 146690;180105;613837 REVIEWED 1604056 INADL InaD-like (Drosophila) This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008] 1 1 p31.3 61980737 62402180 + 62208149 62629592 + 6480464 9280290;19255144;19138174;18824598;17287269;17235357;16710414;16678097;16637659;16129888;15489334;15241471;12771187;12527193;12477932;12021270;11964389;11927608;11509564;11374908;10079096;9647694;8617505;11872753;18596123;19563532;20379614;16169070;19471022;21139048;21110914;20467438;23000965;23251661 10207 B4DE90;F5GY89;Q5VUA9 AB044807;ABBA01074609;ABBA01074610;ABBA01074611;ABBA01074612;ABBA01074613;ABBA01074614;ABBA01074615;ABBA01074616;ABBA01074617;ABBA01074618;ABBA01074619;ABBA01074620;ABBA01074621;ABBA01074622;ABBA01074623;AC097064;AF397170;AJ001306;AJ224747;AJ224748;AK130492;AK293519;AK294187;AK304355;AK307713;AK308428;AK308665;AL136458;AL353802;AL449143;AL590374;AMYH01000665;AMYH01000666;BC021135;BC142661;BC142723;BC144135;CD356816;CH471059;NM_176877 AAH21135;AAI42662;AAI42724;AAM28433;BAB19683;BAG57001;BAG57503;BAG65197;CAA04666;CAA12112;CAA12113;EAX06593;EAX06594;EAX06595;EAX06596;NP_795352;Q8NI35 Hs.478125 1341403;1342061;1651446;1654577;1674757;1677612;1681789;1700036;1700236;1716813;1717789;1718649;1719309;1751853;1779456;1781690;2120627;2131139;2135717;2137082;2159499;2172941;2179306;5022578;5093364;7186063 A009N06;AL009332;AL009503;AL009719;AL010059;D1S1423;D1S230;D1S246;D1S2554;D1S3389;G32675;RH103630;RH103735;RH121702;RH121804;RH123012;RH123377;RH94138;SHGC-105844;SHGC-153439;SHGC-155078;SHGC-34755;SHGC-74898;SHGC-74915;SHGC-862 Cipp;FLJ26982;InaD-like;PATJ;hINADL OTTHUMP00000010233;OTTHUMP00000010237;OTTHUMP00000194786;PALS1-associated tight junction protein;PDZ domain protein;channel-interacting PDZ domain protein;inaD-like protein;inactivation no after-potential D-like protein;protein associated to tight junctions APPROVED protein-coding ENSG00000132849 28881 04434 603199 REVIEWED 1347419 INE2 inactivation escape 2 (non-protein coding) X X X p22.2 19921322 19923196 - 15713760 15715633 - 15803839 15805712 - 9244435 8551 ABBA01071351;AC096510;AMYH01022110;NG_012746;NG_012766;NR_002725;Y10697 Hs.653287 1681895;2114626;5015619;5022200 Cda1bf09;D11S3114;G24103;L18426 NCRNA00011 miscrna 6061 300165 VALIDATED 69037 INA internexin neuronal intermediate filament protein, alpha Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009] 10 10 q24.33 105026910 105040093 + 105036920 105050108 + 1580863;6480464 15121898;12209604;7769995;19139367;19110265;18528283;16722980;15673434;15489334;15161649;12477932;10862698;9435256;8889548;7690783;2201753;20213320;20562859;16385451;21139048;21693764;21990041;17683050;21628590;17620599;22318606;22586326;22683712;19805454;22890969 9118 Q16352;Q96J72 AB209785;ABBA01063112;AK293490;AK311620;AL591408;AMYH01003025;BC006359;BM679369;CH471066;NG_012318;NM_032727;S78296 AAB34482;AAH06359;ABM83659;ABM86906;BAD93022;BAG56977;EAW49653;EAW49654;NP_116116;Q16352 Hs.500916 2119329;2131320;2162541;2162834;2184057 D10S1329E;D10S1468;RH66270;SHGC-63470;WI-14107 FLJ18662;FLJ57501;MGC12702;NEF5;NF-66;TXBP-1 66 kDa neurofilament protein;OTTHUMP00000020403;alpha-Inx;alpha-internexin;internexin, alpha;neurofilament 5 (66kD);neurofilament-66, tax-binding protein APPROVED protein-coding ENSG00000148798 6057 05628 605338 REVIEWED 1353070 IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008] 3 3 p21.2 49036762 49041879 - 49061758 49066875 - 1580863;5144133;6480464;6907045 18295529 7903306;1969416;17353931;19367581;18976158;18677108;18583139;18444945;18043470;17713475;17660802;20135634;17496727;15670151;15621150;15592455;15489334;12477932;11181995;10930578;10194364;10097070;9858805;9278455;8098009;7999076;7910933;7896827;7763314;2902093;8681386;21145461;21319273;14766016;20679962;20808934;15383276;1574589;16236267;16713569;19597826;19617864;19770842;19810816;20045992;20061166;20718729;22863883;22939629;16196087;17342744;21460227;22029192;17623298;18781797;21081666;21181270;21987572;21996196;22586326;22066532;21139048;21890473;21906983;21963094;17361185;20473970;21628590;19380743;22053931;22268729;22505724 3615 E7ETK5;H0Y4R1;P12268 ABBA01024618;AC137630;AK293397;AMYH01013155;AY491522;AY491523;AY545560;BC006124;BC009236;BC012840;BC015567;CH471055;HI179056;J04208;L08114;L33842;L39210;NG_012091;NM_000884 AAA36112;AAA36113;AAA67054;AAB70699;AAH06124;AAH12840;AAH15567;AAR84630;AAR84631;AAS50155;ABM84329;ABM87720;BAH11500;CBX53836;EAW64946;EAW64947;NP_000875;P12268 Hs.654400 1744859;1744861;1770201;1854916 A006Z13;GDB:574029;GDB:574031;RH78497 IMPD2;IMPDH-II IMP (inosine monophosphate) dehydrogenase 2;IMP oxireductase 2;IMPD 2;IMPDH 2;OTTHUMP00000210555;OTTHUMP00000210556;inosine 5' phosphate dehydrogenase 2;inosine monophosphate dehydrogenase type II;inosine-5'-monophosphate dehydrogenase 2 APPROVED protein-coding ENSG00000178035 6053 00895 146691 REVIEWED 1350074 INE1 inactivation escape 1 (non-protein coding) X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010] X X X p11.4-p11.3 51259537 51260550 + 46948512 46949883 + 47064247 47065260 + 6480464 16344560;12477932;9618446;9244435 8552 O15225 ABBA01052313;AL513366;AMYH01022259;BC069671;BC069696;BC069772;BC112149;BC112175;DA439607;NG_009161;NG_021353;NR_024616;Y10696 CAA71702 Hs.657350 1670216;2108167;2126857;2131073;2220546;5022651 D11S2921;DXS6974E;INE1_8829;RH48434;UniSTS:484337;WI-18308 MGC97326;MGC97335;MGC97386;NCRNA00010 APPROVED miscrna 6060 02158 300164 VALIDATED 1313235 INCENP inner centromere protein antigens 135/155kDa In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008] 11 11 q12.3 61648021 61677211 + 61891445 61920635 + 1580863;6480464 21346195;9864353;14610074;16239925;18752045;17956729;17623812;17081983;16764853;16571674;16565220;16378098;15917996;15796717;15489334;15316025;15249581;14702039;12925766;12660166;12584241;12477932;11516652;11453556;11139336;10737800;10369859;9914378;8088460;1860899;17322402;11084331;16760428;17681274;19494039;18773538;20619651;19951914;11050385;11352945;20372054;18477699;20562864;17099693;19995937;20360068;21554500;21890473;21829377;22586326;19357306;23000965;23562843;20929775;21875947 3619 E9PM67;Q9NQS7 ABBA01003218;AF282265;AK056195;AK307633;AK310714;AMYH01003685;AP002793;AW839685;AY714053;BC032678;BC098576;BC111732;CH471076;CV569756;NM_001040694;NM_020238 AAF87584;AAH98576;AAU04398;BAG51645;EAW74003;EAW74004;EAW74005;NP_001035784;NP_064623;Q9NQS7 Hs.142179 2106513;5021353 INCENP__6466;MARC_3953-3954:996679214:1 FLJ31633;MGC111393 OTTHUMP00000236001;OTTHUMP00000236061;binds and activates aurora-B and -C in vivo and in vitro;chromosomal passenger protein;inner centromere protein;inner centromere protein INCENP APPROVED protein-coding ENSG00000149503 6058 05103 604411 VALIDATED 1314890 ING1 inhibitor of growth family, member 1 This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 13 13 q34 110163084 110171422 + 111364970 111373421 + 1600155;6480464;7240710 10866301 8944021;19132896;19085961;18836436;18801192;18655775;18533182;18388957;17949449;17929852;17805569;17585055;17379210;16607280;16581770;16465410;16325212;16273637;15800978;15677627;15662138;15601862;15534913;15526165;15451426;15375504;15201991;14676120;14665632;14581367;12963728;12637159;12632089;12477932;12243754;12208736;12147653;12015309;12008079;11784859;11682605;11481424;11118440;10807544;10779953;10754201;10679922;10626813;10554029;9440695;9330636;9186514;9121449;9102209;11991811;16728974;18450387;18691180;19680556;20066899;18193082;14522900;14630091;21078114;21286670;21432775;21528065;21176536;21731648;16288740;21896275;22260079;22318606;23462723;20621832;21779982;19322201;22237655;23388825 3621 Q9UIJ3 AA450055;AB024401;AB024402;AB024403;AB024404;AB024405;AB031269;AB037387;AB037594;ABBA01026991;AF001954;AF044076;AF078835;AF078837;AF149721;AF149722;AF149723;AF167551;AF181849;AF181850;AI016573;AJ310392;AK302353;AL157820;AMYH01005378;AMYH01005379;BC018348;BC093942;BC093944;BF435293;BF510437;BG703874;BQ430264;CH471085;DB450867;DB537640;HI179024;HI179026;HI179028;HI179030;NG_012197;NM_001267728;NM_005537;NM_198217;NM_198218;NM_198219 AAB60879;AAC00501;AAF07920;AAF07921;AAF37421;AAF37422;AAF37423;AAG02578;AAG02579;AAG12174;AAG12175;AAH93942;AAH93944;BAA82886;BAA82887;BAA82888;BAA82889;BAA82890;BAA83462;BAA83496;BAB08101;BAB08102;BAB08103;BAB20992;BAG63679;CAC38067;CBX53821;CBX53822;CBX53823;CBX53824;EAX09127;EAX09128;EAX09129;EAX09130;EAX09131;NP_001254657;NP_005528;NP_937860;NP_937861;NP_937862;Q9UK53 Hs.46700;Hs.508725 1657889;1690254;1698978;1856277 RH103058;RH75282;SHGC-37358;STS-N33574 p24ING1c;p33;p33ING1;p33ING1b;p47;p47ING1a OTTHUMP00000018703;OTTHUMP00000018704;OTTHUMP00000018705;OTTHUMP00000018706;growth inhibitor ING1;growth inhibitory protein ING1;inhibitor of growth protein 1;tumor suppressor ING1 APPROVED protein-coding ENSG00000153487 6062 03337 275355;601566 REVIEWED 1343033 INF2 inverted formin, FH2 and WH2 domain containing This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010] 14 14 14 q32.33 85211992 85241995 + 104226988 104256992 + 105155943 105185947 + 6480464;7240710 18029348;16818491;16344560;15466701;15203218;12665801;12477932;11181995;8125298;20023659;21278336;21258034;20803156;22986496;23349293;21866090;22939629;23620398;20360068;22187985;21900206;21987572;23014460;22879592;12938929;21139048;21890473;21906983;21998204;21998196;22113938;22961558;22971997;23383273 64423 G3V4V3;H7BXE4;Q27J81 ABBA01002987;ABBA01002988;AF318379;AK025709;AK027105;AK225325;AK290083;AL583722;AL832905;AMYH01006062;AMYH01006063;BC006173;BC008756;BC064828;BG335490;BG820892;BI489810;BQ961756;BU538960;BX248757;CD631414;CH471061;DA500952;DQ395338;DQ395339;DQ395340;DQ499599;NG_027684;NM_001031714;NM_022489;NM_032714 AAH06173;AAH08756;AAH64828;AAI72394;AAL55886;ABD59343;ABD59344;ABD59345;ABF54970;BAB15224;BAB15659;BAF82772;CAD66564;CAH10628;EAW81871;EAW81872;EAW81873;EAW81874;EAW81875;NP_001026884;NP_071934;NP_116103;Q27J81 Hs.24956 1662588;1684196;1698804 RH102965;RH98436;STS-F09599 C14orf151;C14orf173;CMTDIE;DKFZp762A0214;FLJ22056;FSGS5;MGC13251;pp9484 HBEAG-binding protein 2 binding protein C;HBEBP2-binding protein C;OTTHUMP00000028410;OTTHUMP00000183468;OTTHUMP00000197011;inverted formin 2;inverted formin-2 APPROVED protein-coding ENSG00000203485 23791 08648 610982;613237;614455 REVIEWED 1348017 ING2 inhibitor of growth family, member 2 This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. [provided by RefSeq, Jul 2008] 4 4 q35.1 184663214 184669243 + 184426220 184432249 + 1580863;6480464 15243141;10072587;16387653;19437536;18998165;18951897;18513492;18451145;18334480;18160212;17929852;17469822;16782091;16755297;16488987;16465410;16024799;15761153;15748897;15489334;15356280;15005689;12859901;12477932;11784859;11481424;8889548;16728974;18029348;19730436;19962781;17207965;20676127;21124965;18193082;20890119;16893883;21832049;22318606;20621832 3622 B6ZDS1;C9J4X5;Q9H160 AB012853;AB196793;ABBA01070502;AC107214;AF053537;AF062747;AJ006851;AK294310;AK314000;AMYH01014762;BC030128;BM929984;CH471056;NM_001564 AAG11395;AAG11396;AAH30128;ADQ32258;BAA36419;BAF30476;BAG36712;BAH11731;CAC20567;EAX04689;EAX04690;NP_001555;Q9H160 Hs.107153 1769258;1788766;2108169 ING1L_8420;RH131506;RH36386 ING1L;p33ING2 ING1Lp;OTTHUMP00000197671;inhibitor of growth 1-like protein;inhibitor of growth family, member 1-like;inhibitor of growth protein 2;p32 APPROVED protein-coding ENSG00000168556 6063 05021 604215 VALIDATED 1321527 ING3 inhibitor of growth family, member 3 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008] 7 7 q31 120378053 120402947 + 120590817 120615711 + 6480464 14966270;19401682;18081876;17634537;15647280;15489334;15196461;14702039;12963728;12853948;12545155;12477932;12080476;9847074;8889548;15604093;16387653;16728974;19935701;22550337;20946988;21832049;19322201;22318606;22467210;19154204 54556 E7ET07;Q9HC99 AACC02000001;ABBA01057764;AC004537;AF074968;AF161419;AF180298;AK000096;AK291905;AK293682;AL603623;AMYH01017894;AY007790;BC009776;BC009777;BC010851;BC062634;BC073865;BC093091;BC093689;BC101609;BC143316;BU677936;BU684039;CA442734;CH236947;CH471070;NG_023322;NM_019071;NM_198267 AAF28979;AAG12172;AAG23285;AAH09776;AAH09777;AAH10851;AAH62634;AAH73865;AAH93091;AAH93689;AAI01610;AAI43317;AAI46418;AAI53172;AAQ13674;AAQ93373;AAQ93374;BAA90942;BAF84594;BAG57123;CAC48260;EAW83546;EAW83547;EAW83548;EAW83549;NP_061944;NP_938008;Q9NXR8 Hs.489811 2150902;2150904;2165949;5017558;5491969 A005W09;G20547;ING3;ING3-1;RH18523 Eaf4;FLJ20089;ING2;MEAF4;p47ING3 OTTHUMP00000180572;OTTHUMP00000180573;OTTHUMP00000211234;OTTHUMP00000211235;OTTHUMP00000211236;inhibitor of growth protein 3 APPROVED protein-coding ENSG00000071243 14587 06321 607493 REVIEWED 1319738 ING4 inhibitor of growth family, member 4 This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008] 12 12 p13.31 6629707 6642565 - 6759704 6772308 - 6480464 12750254;15029197;15251430;19250543;19034511;18789575;18779315;18775696;18399550;18394746;17848618;17517644;17325660;16973615;16920330;16916647;16096374;15935570;15897452;15882981;15528276;15489334;15342556;12477932;10931946;8889548;21454715;20707719;21056991;20705953;20501848;19775294;20211142;20716169;16387653;16728974;17157298;17363573;17954561;18381289;19430401;19571607;20053357;20381459;21177815;20445261;21310648;21315418;23055189;22078444;21626442;21890473;22144582;21971889;22228137;22318606;22334692;20953165;21988832;23056468;23455924;23603392;23624912;23181555;22436625;22767438 51147 A4KYM5;E9PJ14;E9PNE3;H0YEH7;Q9H3J0;R4GNG1 AB197695;AB197696;AB197697;ABBA01017650;AC125494;AC135892;AF063594;AF110645;AF156552;AK293169;AK303354;AK313621;AMYH01004205;AW515338;AW614868;BC007781;BC013038;BC095434;BG705367;BG718170;BM727982;BM922497;BP303219;BQ066994;CH471116;EF152349;EF152350;EF152351;EF152352;NM_001127582;NM_001127583;NM_001127584;NM_001127585;NM_001127586;NM_016162 AAD48585;AAG43153;AAH07781;AAH13038;AAH95434;AAL79773;ABO61139;ABO61140;ABO61141;ABO61142;ADZ15665;BAF30477;BAF30478;BAF30479;BAG56713;BAG64415;EAW88762;EAW88763;EAW88764;EAW88765;EAW88766;EAW88767;EAW88768;EAW88769;EAW88770;EAW88771;EAW88772;EAW88773;NP_001121054;NP_001121055;NP_001121056;NP_001121057;NP_001121058;NP_057246;Q9UNL4 Hs.524210 1696026;2109435;2156226;2168775;2168777;2180210;2181037 A001T24;D12S2141;G19629;ING4_9672;RH11183;SHGC-83169;WI-19753 MGC12557;my036;p29ING4 OTTHUMP00000180574;OTTHUMP00000180575;OTTHUMP00000180576;OTTHUMP00000233422;OTTHUMP00000233423;OTTHUMP00000246202;brain my036 protein;candidate tumor suppressor p33 ING1 homolog;inhibitor of growth protein 4 APPROVED protein-coding ENSG00000111653 19423 09774 608524 REVIEWED 1347843 INGX inhibitor of growth family, X-linked, pseudogene X X X q12 71065251 71066478 - 70628254 70629024 - 70711377 70712604 - 1580863;6480464 15489334;15356280;12859901;12477932;10626813 27160 ABBA01067752;AF149724;AL590763;AMYH01022537;BC101123;BC101124;BC117297;NR_002226 AAF73156 Hs.721806 2220524;2220608;5021872;5037552 D8S2279;UniSTS:484089;UniSTS:485787;sY3084 ING1-like;ING2;MGC119770;MGC119771 pseudo 6064 02348 300452 PROVISIONAL 736727 INHA inhibin, alpha This gene encodes the alpha subunit of inhibins A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion.[provided by RefSeq, Dec 2010] 2 2 q33-q36 220145198 220148671 + 220436954 220440435 + 1580863;2290369;2290383;2290367;2290380;1579943;2301687;2301690;2290381;2290368;2290379;2290384;2290390;6480464 10602485;10435065;17414107;11720904;15745937;18413775;8090730;11818495;17143484;11545298;9506758;15583806 22267736;14596968;12857425;12721183;12697670;12682233;12679471;12660265;12651901;12587530;12576745;12493718;12477932;12456605;12385827;12093833;11344232;11134153;11098038;8885240;3758355;3754442;3345731;3035540;3016724;2770810;2767687;2575216;2036994;1448148;1423490;14667886;12456957;12324653;1310063;8267637;3267209;10320815;9166111;9032295;10865214;7890768;10746731;19574343;19542176;19436293;19412349;19391217;19363042;19324345;19195690;19079962;19064572;19003635;18852530;18826955;18630123;18460206;18423626;18397882;18249384;18091323;18047273;17933751;17847007;17603052;17457606;17272393;17074342;16989826;16778388;16758344;16723387;16670820;16650414;16621788;16423381;16396934;16390856;16195413;16161415;16048795;15950648;15816368;15578072;15562017;15551748;15489334;15451570;15374731;15236099;15227735;15214825;15205401;14967395;20634197;19107499;19589860;19615428;19752047;20188029;21115906;20704626;20716560;20734064;20209104;21174065;21263247;22417854;21388678;21252475;21529351;21707703;21708117;23724521;22585605;22296042;22430733;21809377;21785376;22055401;21992678;22127493;22581369 3623 P05111 A14420;ABBA01023840;AC009955;AMYH01011509;AW025787;BC006391;BC039076;BT006954;CH471063;M13144;M13981;NG_016977;NM_002191;X04445 AAA59166;AAA59167;AAH06391;AAP35600;ABM84699;ABM92219;CAA01158;CAA28040;EAW70774;NP_002182;P05111 Hs.407506 1685576;1729031;1741497;1788012;1811766;1815202;1818984;1832146;1835632;1838238;1965078;1965080;1965082;1965084;1965086;1965088;1965090;1965092;1965094;1965096;1965098;1965100;1965102;1965104;1965106;1965108;1965110;1965112;1965114;1965116;1965118;1965120;1965122;2106515;2214088;2214090 ECD06887;ECD08636;ECD10557;ECD17211;ECD18972;ECD20291;G67371;GDB:181252;INHA_4110;REN53413;REN53414;REN53415;REN53416;REN53417;REN53418;REN53419;REN53420;REN53421;REN53422;REN53423;REN53424;REN53425;REN53426;REN53427;REN53428;REN53429;REN53430;REN53431;REN53432;REN53433;REN53434;REN53435;RH76187;UniSTS:143587;stSG633102;stSG633104 A-inhibin subunit;OTTHUMP00000065425;inhibin alpha;inhibin alpha chain APPROVED protein-coding ENSG00000123999 6065 00933 147380 REVIEWED 1317373 ING5 inhibitor of growth family, member 5 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in TP53-dependent regulatory pathway. [provided by RefSeq, Jul 2008] 2 2 q37.3 242290129 242317569 + 242641456 242668896 + 1580863;6480464 12750254;18623064;17081983;16189514;15489334;15383276;14702039;12477932;8889548;16169070;21177815;16387653;16728974;17954561;18794358;19187766;20131318;20379614;20936779;17207965;20182888;21062663;21193223;22384930;21750715;21900206;22144582 84289 E9PEN0;Q8WYH8 ABBA01006064;ABBA01006065;AC114730;AC133528;AF189286;AI701412;AK074422;AK128322;AK289958;AMYH01011634;BC005370;BC039028;BC071899;BI962551;BQ187350;CH471063;NM_032329 AAH05370;AAH71899;AAL68979;AAX82019;AAY14921;ADQ32039;BAB85078;BAF82647;EAW71287;EAW71288;EAW71289;NP_115705;Q8WYH8 Hs.529172 1687640;1764979;2181819;5014051;5020946;5022200;5024413 D8S2278;L17877;L17971;L18426;RH76740;SHGC-148535;SHGC-64331 FLJ23842;p28ING5 OTTHUMP00000200119;OTTHUMP00000200120;inhibitor of growth protein 5 APPROVED protein-coding ENSG00000168395 19421 16348 608525 REVIEWED 6768848 INHBA-AS1 INHBA antisense RNA 1 7 p14.1 41733514 41818976 + 12477932;14702039;23470693 285954 AACC02000040;ABBA01058169;AC005027;AK096266;AMYH01017200;BC037931;BC047446;CH236951;NR_027118;NR_027119 Hs.656869 1336825;1710970;1744185;2143800;2148711;2153724;2163342;5015861;5020948;7185938;7186693 AFMa283xf5;D10S16;D7S2548;G29133;G35510;GDB:435302;L18187;SHGC-36652;SHGC-84854 APPROVED miscrna ENSG00000224116 40303 PREDICTED 5133075 INMT-FAM188B INMT-FAM188B readthrough (NMD candidate) This locus represents rare but naturally occurring read-through transcription between the INMT (indolethylamine N-methyltransferase) and FAM188B (family with sequence similarity 188, member B) genes on chromosome 7. The read-through transcript is unlikely to produce a protein because it is a nonsense-mediated mRNA decay (NMD) candidate based on translation from the supported INMT start codon. [provided by RefSeq, Nov 2010] 7 p 30791751 30932002 + 12853948;20967262;9847074 100526825 F8WBC2;H3BSR8 AACC02000087;ABBA01056814;AC004691;AC006022;AK308762;AMYH01017151;NR_037598 Hs.660192 FLJ98803 APPROVED miscrna ENSG00000254959 41995 VALIDATED 733811 INHBC inhibin, beta C This gene encodes the beta C chain of inhibin, a member of the TGF-beta superfamily. This subunit forms heterodimers with beta A and beta B subunits. Inhibins and activins, also members of the TGF-beta superfamily, are hormones with opposing actions and are involved in hypothalamic, pituitary, and gonadal hormone secretion, as well as growth and differentiation of various cell types. [provided by RefSeq, Jul 2008] 12 12 q13.1 56114810 56130876 + 57828543 57844609 + 1580863;6480464;6907045 7826378;19095948;19064572;18413775;16627954;12960042;12651901;11237224;11134153;9428386;8838799;1646080;12477932;20458061;20734064;20884846;21063444;20012305;20952735;21092084;20683603;21529351;21117833;23180294;23263486;23284751 3626 F8VVQ8;P55103 ABBA01026702;AC022506;AC126614;AK314849;AMYH01004516;AMYH01004517;AMYH01004518;BC020693;BC130324;BC130326;CH471054;NM_005538 AAI30325;AAI30327;BAG37366;EAW97011;NP_005529;P55103 Hs.632722 1771458;2106517;5024543 D1S3690;INHBC_4111;WI-19145 IHBC OTTHUMP00000242576;activin beta-C chain;activin/inhibin beta c;inhibin beta C chain APPROVED protein-coding ENSG00000175189 6068 03136 601233 REVIEWED 737308 INHBE inhibin, beta E INHBE is a member of the activin beta family (see INHBA; MIM 147290) that plays a role in pancreatic exocrine cell growth and proliferation (Hashimoto et al., 2006 [PubMed 16426570]).[supplied by OMIM, May 2008] 12 12 12 q13.3 57503083 57505778 + 56135363 56138058 + 57849096 57851791 + 737633;1580863;6480464;6907045 12477932 18413775;16426570;16303743;15489334;14702039;12242034;20012305;20033758;20734064;21092084;15717329;19322201;23263486 83729 F8VNP4;P58166 ABBA01026701;ABBA01026702;AC022506;AF412024;AK075285;AMYH01004518;BC005161;BF305618;CH471054;CQ783417;NG_029564;NM_031479 AAH05161;AAN03682;ACE86431;ACE87106;ADZ15898;BAC11521;CAF86622;EAW97012;NP_113667;P58166 Hs.632713 2122070 RH48794 MGC4638 OTTHUMP00000242578;activin beta E;activin beta-E chain;inhibin beta E chain APPROVED protein-coding ENSG00000139269 24029 11047 612031 VALIDATED 732688 INHBA inhibin, beta A The inhibin beta A subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumor-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta A subunit forms a homodimer, activin A, and also joins with a beta B subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. Finally, it has been shown that the beta A subunit mRNA is identical to the erythroid differentiation factor subunit mRNA and that only one gene for this mRNA exists in the human genome. [provided by RefSeq, Jul 2008] 7 7 p15-p13 41695126 41709231 - 41728601 41742706 - 1580863;2313385;2313391;2301688;6480464;6907045 7852520;14663836;16423381 19574343;19383344;19308293;19240652;19196915;19158274;19141859;19128983;19095948;19091310;19086053;19064572;19028479;19027859;18854336;18768470;18719101;18695873;18608101;18600473;18535106;18460206;18450971;18423626;18413775;18381582;18359784;18353928;18319260;18299275;18166170;18156495;18089557;18077449;18001154;17968943;17954979;17929017;17909904;17681301;17478557;17462637;17436000;17384470;17204604;16988001;16820918;16643884;16344560;16081641;15950648;15737465;15580313;15489334;15451571;15374731;15292256;15205401;15188178;15123686;15123352;15094188;15070957;9884026;16198295;12324653;12456957;2575216;1310063;8267637;3267209;10320815;9166111;9032295;12702211;10865214;7890768;12213882;15031321;14993131;14738881;14671321;14671202;14613548;12877256;12853948;12721183;12697670;12690205;12660162;12651901;12587530;12524226;12477932;12414903;12399529;12161551;12149426;12088879;11969340;11459787;11344232;11266516;11134153;10859029;10746731;9872992;9202237;8955111;8397373;8125298;7887917;3758355;3754442;3345731;2767687;1777673;1646080;8015550;20610541;20628624;20634197;20634891;21475087;20203128;20660033;11948405;15451575;19200970;19257827;19324968;19386982;19539911;19615428;19641514;19733294;19885849;20028875;20043075;20194748;20200332;20226172;20379614;20036850;10932194;20704626;20734064;20926007;20720391;20309641;21102462;12665510;16751776;22416010;23024260;22548442;21464440;21640344;21529351;22161160;19661148;21576276;19736306;21846490;21222045;21767104;21952245;22296042;21132402;21992678;22219177;22425195;22685232;22579070;22439617;23470693;22234949;22845186 3624 A4D1W7;P08476 A14422;AACC02000040;ABBA01058169;AC005027;AF218018;AK222742;AK290584;AMYH01017200;AU137531;BC007858;BX648811;CH236951;CH471073;CS274788;D49743;J03634;M13436;NM_002192;X04447;X57578;X57579;X72498 AAA35787;AAA59168;AAG17260;AAH07858;AAQ96861;ABM84084;ABM87451;BAA08577;BAD96462;BAF83273;CAA01159;CAA28041;CAA40805;CAA40806;CAA51163;CAI46003;CAJ84003;EAL24001;EAW94139;EAW94140;EAW94141;NP_002183;P08476 Hs.583348 1336825;1710970;1742919;1744185;1790249;1796118;2142073;2142075;2143800;5125717;7186693 AFMa283xf5;D7S2548;G15849;GDB:215624;GDB:435302;INHBA;INHBA-STS;INHBA_750;SHGC-12763;SHGC-84854 EDF;FRP FSH-releasing protein;Inhibin, beta-1;OTTHUMP00000159074;OTTHUMP00000207260;activin beta-A chain;erythroid differentiation factor;erythroid differentiation protein;follicle-stimulating hormone-releasing protein;inhibin beta A chain;inhibin beta-a;inhibin, beta A (activin A, activin AB alpha polypeptide) APPROVED protein-coding 6066 00929 147290 REVIEWED 735395 INHBB inhibin, beta B The inhibin beta B subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta B subunit forms a homodimer, activin B, and also joins with the beta A subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. [provided by RefSeq, Jul 2008] 2 2 cen-q13 120820189 120825853 + 121103719 121109383 + 1580863;6480464;6907045 3122219;12456957;2575216;10320815;12419948;12790766;19198021;19064572;18927237;18826955;18593767;18555227;18423626;18413775;18381568;17991484;17914098;17761145;17681301;17666595;17628551;17525068;17376219;17272393;16989826;16935389;16758344;16728349;16670820;16650820;16650414;16423381;16195413;16048795;16024538;15910540;15851553;15757857;15562017;15551748;15489334;15374731;15319819;15205401;15196700;15070953;12857425;12651901;12571168;22432041;12543931;12493718;12477932;12414903;12032389;11344232;11266516;11134153;9202237;3754442;3345731;2767687;2739657;2364091;1646080;22611157;21168856;21475087;20634197;20634891;12697670;19061996;19539911;19574343;19589860;20200332;20149358;20734064;20630504;20713036;21552555;21285453;21529351;21843890;21938679;22747683;21988832;23423746;23263486;23326517 3625 P09529 AA416873;ABBA01045911;AC012363;AI659282;AMYH01010991;BC030029;BC127815;BF938974;CH471103;CK430845;M13437;M31668;M31669;M31682;NM_002193 AAA59169;AAA59170;AAA59451;AAH30029;AAI27816;AAY14801;ABM81634;EAW95243;NP_002184;P09529 Hs.1735 1688229;1741499;1773292;1796120;2185746 G15907;GDB:181253;INHBB_752;RH11434;RH92169 MGC157939 Inhibin, beta-2;OTTHUMP00000162134;activin AB beta polypeptide;activin beta-B chain;inhibin beta B chain;inhibin beta-b APPROVED protein-coding ENSG00000163083 6067 00934 147390 REVIEWED 1317489 INIP INTS3 and NABP interacting protein SOSSC is a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 9 9 9 q32 85947827 85979428 - 114488607 114520208 - 115448786 115480387 - 737633;6480464 12477932 15489334;15164053;11042152;18029348;18449195;19605351;19683501;19786574;21832049;22939629;21890473 58493 Q5VWJ6;Q9NRY2 ABBA01042697;AF161409;AF161411;AK000637;AK310007;AL390067;AMYH01021648;AMYH01021649;BC013097;BC014881;BC065210;CH471105;NM_021218 AAF28969;AAF28971;AAH13097;AAH14881;AAH65210;ABM83331;ABM86542;EAW59113;NP_067041;Q9NRY2 Hs.658575 1678699;1701570;1716431;1728243;1739369;2149725;5015861;5022578;5022651;5037552;5117897;7185938 D10S16;D11S2921;D1S1423;D8S2279;D9S1651E;G63547;GDB:631813;RH104418;RH121396;RH91235;SHGC-37345 C9orf80;HSPC043;MISE;RP11-276E15.2;SOSSC;SSBIP1;hSSBIP1 INTS3- and NABP-interacting protein;OTTHUMP00000021940;OTTHUMP00000021941;SOSS complex subunit C;SOSS-C;SSB-interacting protein 1;hSSB-interacting protein 1;minute INTS3/hSSB-associated element;sensor of single-strand DNA complex subunit C;sensor of ssDNA subunit C;single-stranded DNA-binding protein-interacting protein 1 APPROVED protein-coding 24994 12980 613273 PROVISIONAL 1607029 INO80 INO80 homolog (S. cerevisiae) This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 15 15 q15.1 39058370 39195632 - 41271078 41408340 - 6480464 16298340;18922472;18388905;18376411;17721549;17101442;16230350;15207721;14702039;12477932;10952318;10574462;21303910;20687897;20197409;20237820;20302916;20306291;20379614;18026119;12045097;20855601;22749148;22939629;21947284;22133677;22166198;22242598 54617 H0YKH3;H0YMN5;H0YNL3;Q9NUK2;Q9ULG1 AB033085;ABBA01038425;ABBA01038426;ABBA01038427;AC020661;AC021753;AK002176;AK024777;AK026050;AK057582;AK290371;AL137280;AMYH01006567;AMYH01006568;BC012578;BC046115;BC057299;BC068054;BC105993;BC144681;BC146785;BX350023;CB155560;CH471125;NG_017163;NM_017553;NR_104038 AAI46786;BAA86573;BAA92122;BAB14997;BAF83060;CAB70675;EAW92468;EAW92469;EAW92470;EAW92471;NP_060023;Q9ULG1 Hs.292949 1675848;1770853;1778279;1847866 RH77825;RH93731;STS-H80862;WI-18087 INO80A;INOC1;hINO80 DNA helicase INO80;INO80 complex subunit A;OTTHUMP00000160712;homolog of yeast INO80;putative DNA helicase INO80 complex homolog 1 APPROVED protein-coding ENSG00000128908 26956 10024 610169 REVIEWED 1353464 INPP3 inositol polyphosphate-3-phosphatase 3629 6072 1320959 INO80C INO80 complex subunit C 18 18 18 q12.2 29856143 29885819 - 31302289 31331953 - 33048291 33077955 - 737633;6480464 12477932 18922472;19322201;16368877;16341674;16230350;15489334;14702039;16169070;15960975;21303910;22939629;17721549;21139048;17370265;18029348;22505724 125476 K7EIY8;K7EKI6;K7ELX9;K7ENM4;K7EQ79;M0R3E2;Q6PI98 ABBA01022446;ABBA01022447;AC007998;AK095502;AK300660;AMYH01008936;BC039404;BC048989;BF475320;BM758571;BQ887287;BY800049;CH471088;EC520842;NM_001098817;NM_194281 AAH39404;BAC04560;BAG62346;EAX01357;EAX01358;NP_001092287;NP_919257;Q6PI98 Hs.464903 5020946;5022578;5024413;5491451 D1S1423;L17877;L17971;MARC_13470-13471:1002300368:2 C18orf37;FLJ38183;IES6;hIes6 IES6 homolog;INO80 complex subunit C;OTTHUMP00000163382 protein-coding ENSG00000153391 26994 10719 VALIDATED 1606537 INO80D INO80 complex subunit D 2 2 2 q33.3 200615842 200708300 - 206566690 206659151 - 206858445 206950906 - 6480464 16344560;16230350;14702039;12477932;8125298;22318606;19553259;21303910;17721549 54891 C9JLV2;C9JLZ4;Q53TQ3 ABBA01062642;ABBA01062643;ABBA01062644;ABBA01062645;ABBA01062646;ABBA01062647;AC007383;AC007679;AC092677;AK000316;AK096585;AK225339;AMYH01011433;AMYH01011434;BC004193;BC011687;BC017290;BC136278;CH471063;CR746991;CR933609;DB233201;NM_017759 AAH04193;AAH11687;AAH17290;AAI36279;AAX93069;BAA91079;BAG53330;EAW70374;EAW70375;NP_060229;Q53TQ3 Hs.445036 1339161;1717893;1726715;2117537;2145168;7190115;7190121 A007I21;D2S155;G62745;RH122778;RH70024 FLJ20309 INO80 complex subunit D;OTTHUMP00000206349;OTTHUMP00000206351 protein-coding ENSG00000114933 25997 07894 VALIDATED 1347975 INO80B INO80 complex subunit B This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011] 2 2 2 p13.1 74513388 74516276 + 74535707 74538595 + 74682150 74685087 + 1580863;6480464 15146197;12477932;16230350;15556297;15489334;9847074;16169070;18922472;19095771;21303910;17000644;17721549;18029348 83444 B8ZZ93;B8ZZH7;C9JKY0;F8WCL7;H7C171;J3KQ70;Q9C086 AB054538;ABBA01075601;AC005041;AI978697;AK295889;AK295901;AMYH01010454;BC039617;BC050666;BC064425;CH471053;CN260703;DB451812;NM_031288 AAH50666;AAH64425;BAB21111;BAG58684;BAG58693;EAW99668;NP_112578;Q9C086 Hs.410786 HMGA1L4;HMGIYL4;IES2;PAP-1BP;PAPA-1;ZNHIT4;hIes2 IES2 homolog;INO80 complex subunit B;OTTHUMP00000160419;OTTHUMP00000202629;OTTHUMP00000202630;OTTHUMP00000202631;OTTHUMP00000202632;OTTHUMP00000202634;PAP (Pim-1 associated protein) associated protein 1;PAP-1 binding protein;PAP-1-associated protein 1;zinc finger HIT domain-containing protein 4;zinc finger, HIT type 4 APPROVED protein-coding ENSG00000115274 13324 17110 REVIEWED 1316407 INMT indolethylamine N-methyltransferase N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream FAM188B (family with sequence similarity 188, member B) gene. [provided by RefSeq, Nov 2010] 7 7 7 p14.3 30780990 30786456 + 30758276 30763743 + 30791751 30797218 + 1580863;6480464;6907045 15489334;12853948;12477932;11322482;10552930;192352;19913121;20628086;16095048;16344560;18394749;22396660 11185 O95050 AACC02000087;AB041362;ABBA01056814;AC006022;AF128846;AF128847;AF128848;AK309519;AK313832;AMYH01017151;BC033813;BC103712;BC106902;BC106903;DA920005;NM_001199219;NM_006774 AAD04723;AAF18304;AAF18305;AAF18306;AAH33813;AAI03713;AAI06903;AAI06904;BAA94451;EAL24447;NP_001186148;NP_006765;O95050 Hs.632629 1649401;5014051;5022200;5037552 D8S2278;D8S2279;L18426;RH12838 MGC125940;MGC125941;TEMT OTTHUMP00000123389;OTTHUMP00000202348;amine N-methyltransferase;aromatic alkylamine N-methyltransferase;arylamine N-methyltransferase;indolamine N-methyltransferase;indolethylamine N-methyltransferase;nicotine N-methyltransferase;thioester S-methyltransferase-like;thioether S-methyltransferase APPROVED protein-coding ENSG00000241644 6069 06890 604854 REVIEWED 1350841 INPP5C inositol polyphosphate-5-phosphatase, 120kDa 3634 6078 1605827 INO80E INO80 complex subunit E 16 16 16 p11.2 72778609 72788190 - 29915032 29924613 + 30007531 30017112 + 6480464 16230350;15489334;14702039;12477932;17643375;19615732;19505873;17207965;18922472;21303910;17721549;18029348 283899 H3BNM4;I3L0W8;I3L270;I3NI13;J3KNE2;Q6Y2K3;Q8NBZ0 ABBA01013110;AC093512;AK074033;AK074137;AK075133;AK130409;AK309498;AMYH01007497;AY189289;BC035693;BC047712;CH471238;CQ783841;NM_173618 AAH47712;AAO86733;ADQ33092;BAB84859;BAB84963;BAC11424;CAF86887;EAW79953;EAW79954;EAW79955;EAW79956;EAW79957;EAW79958;EAW79959;NP_775889;Q8NBZ0 Hs.434864 1679379;1685724;1689941 RH25926;RH80757;RH99266 CCDC95;FLJ00079;FLJ90652 INO80 complex subunit E;OTTHUMP00000162994;coiled-coil domain containing 95;coiled-coil domain-containing protein 95 protein-coding 26905 08816 PROVISIONAL 1314476 INPP1 inositol polyphosphate-1-phosphatase This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008] 2 2 q32 190916684 190944552 + 191208196 191236391 + 1580863;6480464;6907045 14702039;8390685;19086053;19058789;17570738;16787706;16344560;15489334;14671192;14574455;12477932;11901356;11812139;10780272;9682271;9599410;2225061;16169070;22939629;22990118;21139048;21900206 3628 B8ZZF6;C9J128;C9J173;C9J2N5;C9J2Z6;E7ENF2;E7ET59;E7EUX4;P49441;Q6IBG4 AB451298;ABBA01062383;ABBA01062384;AC092178;AF141325;AI680695;AK093560;AMYH01011345;AW015766;BC015496;BC106006;BQ100772;CH471058;CR456840;CR541707;DA272809;L08488;NM_001128928;NM_002194 AAA36117;AAD46766;AAH15496;AAI06007;AAY24179;BAG52740;BAG70112;CAG33121;CAG46508;EAX10869;EAX10870;EAX10871;EAX10872;NP_001122400;NP_002185;P49441 Hs.32309 1660163;1784050;1784052;2136202;2155912;2217494 G16421;INPP1_3186;RH17607;SHGC-145512;SHGC-145513;WI-9155 MGC110984 IPP;IPPase;OTTHUMP00000163511;OTTHUMP00000205563;OTTHUMP00000205568;OTTHUMP00000205570;OTTHUMP00000205573;inositol polyphosphate 1-phosphatase APPROVED protein-coding ENSG00000151689 6071 00923 147263 REVIEWED 734292 INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008] 4 4 4 q31.21 140279978 141098274 - 143168631 143987054 - 142949181 143767604 - 633135;1580863;6480464;6907045 9295334 19647222;17846126;15489334;15342556;12477932;10097090;9599410;7608176;21070662;21127264;20379614;21487159;22377302;19322201;21139048;19805454;22895072;23000965 8821 D6R9J5;D6RDJ7;D6RE59;D6RJC3;E7EQN9;E9PCZ3;E9PG59;E9PHC0;H0Y9Q3;H0YA10;O15327;Q5XLE7;Q9BS68 ABBA01069992;ABBA01069993;ABBA01069994;ABBA01069995;ABBA01069996;ABBA01069997;ABBA01069998;ABBA01069999;AC093860;AC093885;AC108060;AC108077;AC138657;AC139720;AK298118;AK300891;AK302936;AMYH01014576;AMYH01014577;AMYH01014578;AY753912;BC005273;BC005274;BC017924;BC072447;BC110918;BC133005;BC144255;BP360389;BX649090;CH471056;NM_001101669;NM_003866;U96922 AAB72153;AAH05273;AAH17924;AAH72447;AAI10919;AAI33006;AAV28485;BAH12726;BAH13368;BAH13850;EAX05081;NP_001095139;NP_003857;O15327 Hs.531403 1331573;1337547;1339090;1339317;1650122;1700070;1705450;1717609;1726515;1726675;1750671;1764525;1784924;1846966;1848760;1850266;1858059;2115567;2121109;2124302;2125550;2132073;2133637;2136887;2140308;2145747;2166712;2172494;2187086;7183426 AFM143YB4;D4S1515;D4S1561;D4S1625;D4S2326;D4S2330;D4S2927;D4S3053;D4S826;D4S982;G16840;G62573;G62638;RH103648;RH122109;SHGC-111986;SHGC-148121;SHGC-14891;SHGC-24624;SHGC-32125;SHGC-50479;SHGC-50555;SHGC-50571;SHGC-51755;SHGC-67852;SHGC-83809;SHGC4-1862;STS-N33390;WI-11228 MGC132014 OTTHUMP00000220065;OTTHUMP00000220066;OTTHUMP00000220068;OTTHUMP00000220069;OTTHUMP00000220070;OTTHUMP00000220071;inositol polyphosphate 4-phosphatase II; 4-phosphatase II;inositol polyphosphate 4-phosphatase type II;inositol polyphosphate-4-phosphatase, type ii, 105kd;type II inositol 3,4-bisphosphate 4-phosphatase;type II inositol-3,4-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000109452 6075 06322 607494 REVIEWED 68560 INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008] 2 2 q11.2 98501857 98570614 + 99061321 99207496 + 68266;633135;1580863;6480464;6907045 7608176;9295334 19264973;18187694;15815621;15716355;15489334;15231748;14702039;12477932;11485317;10702694;10097090;9599410;9110986;18562305;20463662;21890473;23092984 3631 B8ZZB2;F5H860;Q96PE3 AB462500;ABBA01073966;AC010134;AF368319;AK057550;AK307823;AMYH01010797;BC005082;BC028361;CH471127;NG_029890;NM_001134224;NM_001134225;NM_001566;NM_004027;U26398;U96919 AAB01068;AAB72150;AAH28361;AAK58870;AAX93230;ABM86241;EAX01904;EAX01905;EAX01906;EAX01907;EAX01908;EAX01909;EAX01910;NP_001127696;NP_001127697;NP_001557;NP_004018;Q96PE3 Hs.469386 1338287;1677078;1698528;1714561;1715689;2166765;2180152;2181210 D2S1315;D2S2002;D2S2187;DYS418;RH102815;RH119291;RH119794;RH98872 INPP4;TVAS1 OTTHUMP00000203138;OTTHUMP00000203139;OTTHUMP00000203141;OTTHUMP00000225217;inositol polyphosphate 4-phosphatase type I;inositol polyphosphate-4-phosphatase, type 1;type I inositol 3,4-bisphosphate 4-phosphatase;type I inositol-3,4-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000040933 6074 02949 600916 REVIEWED 1343997 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011] 9 9 q34.3 138442892 138454077 - 139323067 139334256 - 1580863;6480464;6907045;7240710 10764818;15324660;12477932;10806194;15465916;19668215;19668216;21068128;10577920;20301500;21297633;21890473;23128233;18094158;21270152;21289126;23150559 56623 Q2YD81;Q9NRR6 ABBA01022708;AF187891;AL592301;AL832846;AMYH01021861;AMYH01021862;BC028032;BC110356;BE044535;BE314630;CH471090;NG_016126;NM_019892;U45974 AAB03215;AAF81404;AAH28032;AAI10357;EAW88233;EAW88234;EAW88235;NP_063945;Q9NRR6 Hs.120998 1651081;1662943;1686873;1701430;1852875;2114769;2123601;7185325 D9S158;RH104347;RH48856;RH70641;RH77981;RH98963;STS-F10030;WI-11990 CORS1;CPD4;JBTS1;MGC117201;MORMS;PPI5PIV 72 kDa inositol polyphosphate 5-phosphatase;OTTHUMP00000022575;phosphatidylinositol (4,5) bisphosphate 5-phosphatase;phosphatidylinositol 4,5-bisphosphate 5-phosphatase;phosphatidylinositol polyphosphate 5-phosphatase type IV;phosphatidylinositol-4,5-bisphosphate 5-phosphatase APPROVED protein-coding ENSG00000148384 21474 17151 213300;610156;613037 REVIEWED 1348251 INPP5D inositol polyphosphate-5-phosphatase, 145kDa This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. Overall, the protein functions as a negative regulator of myeliod cell proliferation and survival. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q37.1 233734415 233781288 + 234054795 234116549 + 1580863;2302068;6480464;6484113;6907045 17371235 8769125;12029088;10350061;17657219;17371259;16818760;16682172;16619039;16428799;16406061;16038794;15953601;15944314;15735664;15604218;15492005;15470047;15184070;15166241;14993273;14702039;14688341;12882960;12829595;12477932;12421919;12393695;12217402;12024011;11724799;11714803;11692111;11443118;11402314;11071635;10900203;10875931;10822173;10748054;10733577;10704825;10660611;10229804;9918857;9531585;9422771;9341117;9110989;9108392;9058707;8874179;8723348;8654924;8643691;11287610;10194451;11247302;15644415;19041431;19473701;19641183;19682241;19839650;19890474;20041145;20331378;20379614;9148918;21402888;19913121;20628086;22815893;21155837;19954644;21622861;21695085;17342744;20304029;21864674;15090612;19880507;21275903;20972266;21906983;21378990;22412388;22267732;22706086;11157475;23128233;22820502;19380743;20697350;22249254;22575191 3635 C9JF09;C9JLW2;F5GXI6;H0Y5Q9;H7C292;H7C2V3;H7C403;Q92835;R4GMN8 ABBA01001944;ABBA01001945;ABBA01001946;ABBA01001947;ABBA01001995;ABBA01001996;AC013726;AC108511;AC114729;AC141929;AC233715;AK298651;AK309644;AMYH01011576;AMYH01011577;BC027960;BC062985;BC099920;BC113580;BC113582;BE247227;BM800110;CH471063;NM_001017915;NM_005541;U50040;U50041;U53470;U57650;U84400;X98429 AAB49680;AAB53573;AAC50453;AAC50454;AAD00081;AAH62985;AAH99920;AAI13581;AAI13583;BAG60823;CAA67071;EAW71029;EAW71030;EAW71031;NP_001017915;NP_005532;Q92835 Hs.262886;Hs.601911 1338318;1653855;1755461;1765365;1765367;1771616;1796122;2133106;2139346;2151276;2175908;5015881;5022651 AFMa053wc5;D11S2921;D2S1279;G29434;GDB:335751;INPP5D_160;RH68049;RH68337;RH70363;SHGC-142327;SHGC-148855;SHGC-148856;SHGC-61987 MGC104855;MGC142140;MGC142142;SHIP;SHIP-1;SHIP1;SIP-145;hp51CN OTTHUMP00000165069;OTTHUMP00000165070;OTTHUMP00000165071;OTTHUMP00000165072;OTTHUMP00000203442;SH2 containing inositol phosphatase, isoform b;SH2 domain-containing inositol 5'-phosphatase 1;SH2 domain-containing inositol phosphatase 1;SH2 domain-containing inositol-5'-phosphatase 1;SHIP-1;inositol polyphosphate-5-phosphatase of 145 kDa;p150Ship;phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1;signaling inositol polyphosphate 5 phosphatase SIP-145 APPROVED protein-coding ENSG00000168918 6079 09033 601582 REVIEWED 1314631 INPP5A inositol polyphosphate-5-phosphatase, 40kDa The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008] 10 10 q26.3 134201343 134446974 + 134351353 134596984 + 1580863;6480464;6907045 8006039;15489334;15164054;14996095;12477932;11210186;9398266;8999861;8889548;8808294;8013665;20876729;21822266;21139048;21890473 3632 B1AP38;H0Y2W5;Q14642;Q5T1B3;Q5T1B4;Q5T1B5;Q8N6C1 ABBA01006188;ABBA01006189;ABBA01006190;ABBA01006191;ABBA01006192;ABBA01006193;AF184215;AF273055;AL356603;AL392043;AL451069;AMYH01003212;AMYH01003213;AMYH01003214;AMYH01003215;AMYH01003216;BC052265;BC062300;BC096280;BC096281;BC117515;BM467443;BM666428;CB960907;CH471211;NM_005539;X77567;Z31695 AAH52265;AAH62300;AAH96280;AAH96281;AAI17516;AAK13252;AAM44458;CAA54676;CAA83500;EAW61306;EAW61307;NP_005530;Q14642 Hs.523360;Hs.715308 1342195;1664617;1683048;1701276;1757869;1758341;1795200;2115883;2139731;7186898 84;D10S1376E;D10S212;D10S2346;RH104267;RH91871;SHGC-146745;SHGC-148086;WI-19193 5PTASE;DKFZp434A1721;MGC116947;MGC116949 43 kDa inositol polyphosphate 5-phophatase;CTCL tumor antigen HD-CL-02;InsP3 5-phosphatase;OTTHUMP00000020775;OTTHUMP00000020776;OTTHUMP00000020777;inositol trisphosphate-5-phosphatase, 40kD;type I inositol 1,4,5-trisphosphate 5-phosphatase;type I inositol-1,4,5-trisphosphate 5-phophatase;type I inositol-1,4,5-trisphosphate 5-phosphatase APPROVED protein-coding ENSG00000068383 6076 02521 600106 REVIEWED 1342739 INPP5B inositol polyphosphate-5-phosphatase, 75kDa Cellular calcium signaling is controlled by the production of inositol phosphates (IPs) by phospholipase C in response to extracellular signals. The IP signaling molecules are inactivated by a family of inositol polyphosphate-5-phosphatases (5-phosphatases). This gene encodes the type II 5-phosphatase. The protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 p34 38098956 38185316 - 38326369 38412729 - 1580863;6480464;6907045 1718960;7721860;17956944;16710414;16344560;15761153;15489334;14702039;12477932;8530037;8529643;8125013;2542294;19536138;19700499;18029348;20808825;20872266;21832049;21890473;21906983 3633 B1ARF3;E7ESY0;Q86YE1 ABBA01023256;ABBA01023257;ABBA01023258;ABBA01023259;ABBA01023260;ABBA01023261;ABBA01023262;AJ251881;AK022846;AK093261;AK295062;AK310824;AL603790;AL833055;AL929472;AMYH01000505;AMYH01000506;AMYH01000507;AMYH01000508;BC042529;BC058932;BC062317;BX296560;CH471059;DA125087;M74161;NM_005540 AAA79207;AAH42529;AAH58932;BAG51126;BAG58111;CAH56301;EAX07307;EAX07308;EAX07309;EAX07310;EAX07311;NP_005531;P32019 Hs.449942 2119052;2151705;2174847;5015961;5016478;5022463;5022578;5037552;5037554;5109281 D15S1477;D1S1423;D1S1425;D3S1673;D8S2279;D8S2282;G27427;GDB:434012;RH120883;STS-AA022685 5PTase;MGC65156;MGC71303 75 kDa inositol polyphosphate-5-phosphatase;OTTHUMP00000004726;OTTHUMP00000004727;OTTHUMP00000004728;phosphoinositide 5-phosphatase;type II inositol 1,4,5-trisphosphate 5-phosphatase;type II inositol-1,4,5-trisphosphate 5-phosphatase APPROVED protein-coding ENSG00000204084 6077 00924 147264 REVIEWED 1354308 INSAF insulin activator factor (insulin control element-binding transcription factor) 1580863 7935390 3637 Q16219 S73205 AAB31986;Q16219 protein-coding 6082 1642400 INS-IGF2 INS-IGF2 readthrough This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008] 11 11 p15.5 2106926 2139015 - 2150342 2182439 - 6480464 16531418;16344560;15146197;10737800;19913121;20628086;20967262;17554260;17632545;10431232;11855150;15008838;17667841;17700581;2902788;7672495;7913866;8565331;21829393 723961 F8WCM5 ABBA01032100;ABBA01032101;ABBA01032102;ABBA01032103;AC130303;AC132217;AI133461;AL568676;AMYH01003318;AMYH01003319;AW878608;AW878688;AW880662;BE161581;BF205917;BF438519;BI042755;BQ128162;BX369936;CB988622;CN338133;DA775768;DA840311;DA851509;DA858680;DQ104204;DQ104205;NM_001042376;NR_003512 AAI48489;AAI53084;ABD93452;ABD93453;F8WCM5;NP_001035835 Hs.272259;Hs.700350;Hs.716962 1655215;1681803;1682147;1694890;1694904;1732213;1741235;1741327;1741547;1741963;1742581;1743425;1744237;1744849;1771016;1777015;1791768;1792486;1792488;1793412;1798842;1798914;1799502;1799924;1799982;1800260;1800262;1801268;1801586;1801870;1801872;1802614;1803652;1803714;1804022;1804074;1804292;1804294;1804344;1804500;1804574;1804956;1806070;1806132;1807618;1808386;1809490;1811798;1812168;1812452;1813472;1814778;1821198;1835036;1836826;1841096;1847598;2091398;2091400;2091402;2091404;2091406;2091408;2091410;2091412;2091414;2091416;2091418;2091420;2091422;2091424;2091426;2091428;2091430;2091432;2091434;2091436;2091438;2091440;2091442;2091444;2091446;2091448;2091450;2091452;2091454;2091456;2091458;2091460;2091462;2091464;2091466;2091468;2091470;2091472;2091474;2091476;2091478;2091480;2091482;2091484;2091486;2091488;2091490;2091492;2091494;2091496;2091498;2091500;2091502;2091504;2091506;2091508;2091510;2091512;2091514;2091516;2091518;2091520;2091522;2091524;2091526;2091528;2091530;2091532;2091534;2091536;2091538;2091540;2091542;2091544;2091546;2091548;2091550;2091552;2091554;2091556;2091558;2091560;2091562;2091564;2091566;2091568;2091570;2091572;2091574;2091576;2091578;2091580;2091582;2091584;2091586;2091588;2091590;2091592;2091594;2091596;2091598;2091600;2091602;2091604;2091606;2091608;2091610;2091612;2091614;2091616;2091618;2091620;2091622;2091624;2091626;2091628;2091630;2091632;2091634;2091636;2091638;2091640;2091642;2127230;2156096;2190719;2216758;2216760;2216762;2216764;2216766;2216768;2216770;2216772;2216774;2216776;2216778;2216780;2216782;2216784;2216786;2216788;2216790;2216792;5118045;5491330;5492137;5492155;5492164;7187505 A002D21;D11S4734;ECD00261;ECD00298;ECD00602;ECD00816;ECD00845;ECD00988;ECD00989;ECD01506;ECD01671;ECD01816;ECD01817;ECD02194;ECD02732;ECD02763;ECD02927;ECD02954;ECD03070;ECD03071;ECD03096;ECD03179;ECD03218;ECD03418;ECD03988;ECD04020;ECD04781;ECD05174;ECD05737;ECD06903;ECD07090;ECD07233;ECD07757;ECD08420;ECD11676;ECD18671;ECD19577;ECD21742;G44328;G44339;GDB:179433;GDB:180498;GDB:181496;GDB:187027;GDB:197907;GDB:316225;GDB:438178;GDB:572840;GDB:677440;IGF2;Ins1;Ins2;PMC123023P3;PMC124986P1;PMC151856P1;PMC151856P2;PMC21231P1;PMC21842P3;PMC24644P6;REN116979;REN116980;REN116981;REN116982;REN116983;REN116984;REN116985;REN116986;REN116987;REN116988;REN116989;REN116990;REN116991;REN116992;REN116993;REN116994;REN116995;REN116996;REN116997;REN116998;REN116999;REN117000;REN117001;REN117002;REN117003;REN117004;REN117005;REN117006;REN117007;REN117008;REN117009;REN117010;REN117011;REN117012;REN117013;REN117014;REN117015;REN117016;REN117017;REN117018;REN117019;REN117020;REN117021;REN117022;REN117023;REN117024;REN117025;REN117026;REN117027;REN117028;REN117029;REN117030;REN117031;REN117032;REN117033;REN117034;REN117035;REN117036;REN117037;REN117038;REN117039;REN117040;REN117041;REN117042;REN117043;REN117044;REN117045;REN117046;REN117047;REN117048;REN117049;REN117050;REN117051;REN117052;REN117053;REN117054;REN117055;REN117056;REN117057;REN117058;REN117059;REN117060;REN117061;REN117062;REN117063;REN117064;REN117065;REN117066;REN117067;REN117068;REN117069;REN117070;REN117071;REN117072;REN117073;REN117074;REN117075;REN117076;REN117077;REN117078;REN117079;REN117080;REN117081;REN117082;REN117083;REN117084;REN117085;REN117086;REN117087;REN117088;REN117089;REN117090;REN117091;REN117092;REN117093;REN117094;REN117095;REN117096;REN117097;REN117100;REN117101;REN117102;REN117103;RH71336;RH75852;SGC35182;STS-H87011;STS-S77035;WI-14149;stSG548711;stSG548713;stSG548714;stSG548715;stSG548716;stSG548719;stSG548720;stSG548722;stSG548723;stSG548724;stSG548725;stSG548726;stSG548727;stSG548728;stSG548729;stSG548730;stSG548731;stSG548733 INSIGF INS-IGF2 readthrough transcript protein;OTTHUMP00000200116;OTTHUMP00000232176;insulin, isoform 2;insulin- insulin-like growth factor 2;insulin- insulin-like growth factor 2 read-through;insulin- insulin-like growth factor 2 read-through product APPROVED protein-coding ENSG00000129965 33527 REVIEWED 1314013 INPP5F inositol polyphosphate-5-phosphatase F The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 10 10 10 q26.11 115216680 115319730 + 121475599 121578649 + 121485559 121588663 + 6480464 18281508;15146197;14702039;12805586;12477932;11274189;10231032;16385451;19875726 22876 Q5T993;Q9H3D9 AB023183;ABBA01062885;ABBA01062886;AC027672;AF109361;AF113227;AI492073;AI783668;AK091448;AK123633;AK307758;AL133461;AL137528;AL158014;AMYH01003119;AMYH01003120;BC052367;BC067820;BC082755;BC111493;BF476150;CD642547;CH471066;CN362016;DB636424;DN992317;H15412;NM_001243194;NM_001243195;NM_014937 AAG39298;AAH52367;AAH67820;AAH82755;AAI11494;AAQ13509;BAA76810;BAG52363;CAB70792;EAW49379;EAW49380;EAW49381;NP_001230123;NP_001230124;NP_055752;Q9Y2H2 Hs.369755 1338809;1655927;1703176;1736128;1773995;1773997;1848867;2118511;2172839;2177921;5022812;5125423 90;A005Z28;D10S1392E;D10S1740;G20627;G29639;MARC_51762-51763:1152648011:2;RH15702;RH44659;SGC32380;WI-17476;WI-22037 FLJ13081;KIAA0966;MGC131851;MGC59773;MSTP007;MSTPO47;SAC2;hSAC2 OTTHUMP00000020608;Sac domain-containing inositol phosphatase 2;inositol polyphosphate 5-phosphatase F;phosphatidylinositide phosphatase SAC2;sac domain-containing phosphoinositide 5-phosphatase 2 APPROVED protein-coding ENSG00000198825 17054 11048 609389 REVIEWED 1604357 INPP5K inositol polyphosphate-5-phosphatase K This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 17 17 p13.3 1344621 1366704 - 1397871 1420182 - 6480464;6907045 10753883;16002321;17353931;18774950;16189514;12621583;12556481;12536145;12477932;8968500;8968499;11509665;22751929;18573875;21890473;21900206;21903422;22815484 51763 B7Z4V9;C9JQW8;C9JZB0;F5GXZ0;I3L0Y0;I3L1R1;I3L2L1;I3L4A5;I3NI31;J3KN07;K7EMS8;K7ENF7;K7EPG6;Q9BT40 AB036829;AB036830;AB036831;ABBA01054666;AC100748;AK297955;AK303907;AK307293;AK312585;AK312844;AMYH01008000;BC004362;BG722885;BM510617;CH471108;NG_029891;NM_001135642;NM_016532;NM_130766;U45973 AAB03214;AAH04362;ABM83741;ABM87060;BAA92340;BAA92341;BAA92342;BAG35479;BAG35697;BAH12695;BAH14079;EAW90614;EAW90615;EAW90616;EAW90617;EAW90618;NP_001129114;NP_057616;NP_570122;Q9BT40 Hs.632238 1647386;1650449;1771230;1847061;1849981;2109847;2131470;2148550;2156628 A004M12;A004Q21;D17S1376E;RH11672;SGC30584;SHGC-32158;SHGC-34337;SKIP_9759;WI-14374 PPS;SKIP OTTHUMP00000198132;OTTHUMP00000198133;OTTHUMP00000198134;inositol polyphosphate 5-phosphatase K;skeletal muscle and kidney enriched inositol phosphatase;skeletal muscle and kidney-enriched inositol phosphatase APPROVED protein-coding ENSG00000132376 33882 08489 607875 REVIEWED 68580 INPPL1 inositol polyphosphate phosphatase-like 1 The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009] 11 11 q13 71613473 71627797 + 71935882 71950191 + 737755;1580863;1626127;2312440;633161;2302068;2312442;6480464;6484113;6907045 11343120;15220217;17327370;12086927;17371235;12453826 8530088;9367831;19065064;19033458;18991394;18692052;18660489;18061583;17893231;17672824;17671700;17557929;17314030;17219406;16842970;16804414;16302969;15777721;15735664;15668240;15557176;15492005;15316017;12690104;12522270;12504111;12477932;12370370;12235291;12147234;11739414;11349134;11238900;11158326;10789675;10610720;10494849;10194451;9824312;9660833;19477690;19518129;19765305;19825976;19839650;19880507;20114020;20114025;20236936;20453000;5668240;20530248;19895833;20654688;22863883;21918362;22079859;22939629;21770892;18029348;19531213;19713535;21139048;21890473;21906983;22244754;17620296;22194892;23273567;23273569;22593208;19380743;20697350;22053931 3636 F5GWY9;F5GY16;F5GYK9;F5H3D8;F5H588;H0YFB4;H0YFZ4;H7BXR2;O15357 ABBA01017539;AMYH01003792;AP000593;BC140853;BG236320;CH471076;L24444;L36818;NG_023253;NM_001567;Y14385 AAA50503;AAA96658;AAI40854;CAA74743;EAW74854;EAW74855;NP_001558;O15357 Hs.523875 1668792;2106519;2111430;2140245 D11S4140;INPPL1;INPPL1__6468;RH67903 OPSMD;SHIP2 51C protein;INPPL-1;OTTHUMP00000237158;OTTHUMP00000237159;SH2 domain-containing inositol 5'-phosphatase 2;SH2 domain-containing inositol phosphatase 2;SH2 domain-containing inositol-5'-phosphatase 2;SHIP-2;inositol polyphosphate phosphatase-like protein 1;phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2;phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2;protein 51C APPROVED protein-coding ENSG00000165458 6080 02900 258480;600829 REVIEWED 1349321 INPP5J inositol polyphosphate-5-phosphatase J 22 22 22 q12.2 15319037 15330758 + 29848961 29860683 + 31518961 31530683 + 1580863;6480464;6907045 12536145;15489334;14702039;12477932;10593988;10591208;10023782;9847074;23443536 27124 B4DF95;B5MBZ3;B5MCL8;C9J0H5;C9K0M5;Q15735 ABBA01055320;ABBA01055321;AC005005;AK092859;AK095944;AK126610;AK293992;AK308921;AK309548;AMYH01012713;BC041652;BC109288;CH471095;NM_001002837;U45975 AAB03216;AAD15618;AAI09289;BAC04657;BAC86611;BAG52616;BAG57356;EAW59936;EAW59937;EAW59938;EAW59939;EAW59940;NP_001002837;Q15735 Hs.517549 1686184;2157509;2158212;5093060 A009F03;G32496;RH70642;STS-R40003 INPP5;MGC129984;PIB5PA;PIPP OTTHUMP00000199391;OTTHUMP00000199392;OTTHUMP00000199393;OTTHUMP00000199394;inositol polyphosphate 5-phosphatase J;phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A;phosphatidylinositol 4,5-bisphosphate 5-phosphatase A protein-coding ENSG00000185133 8956 07573 606481 VALIDATED 1606091 INSC inscuteable homolog (Drosophila) In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008] 11 11 11 p15.2 15261213 15395928 + 15090546 15225330 + 15133970 15268754 + 6480464 20065032;20379614;16458856;12477932;12469229;22074847;22219177;22889411;22977735;23251661 387755 A0PJX5;Q1MX18 AB231744;AB231745;AB231746;AB231747;AB231748;AB231749;AB236158;AB236159;ABBA01061094;ABBA01061095;ABBA01061096;AC090744;AMYH01003406;AMYH01003407;BC117561;BC127700;BU147420;DY654442;NM_001031853;NM_001042536;NM_001278313;NM_001278314;NM_001278315;NM_001278316 AAI27701;AAI56333;AAI57084;BAE17133;BAE17134;BAE17135;BAE17136;BAE46891;BAE46892;BAE93463;BAE93464;NP_001027024;NP_001036001;NP_001265242;NP_001265243;NP_001265244;NP_001265245;Q1MX18 Hs.591997 1776601 D11S4093 OTTHUMP00000231221;OTTHUMP00000231222;OTTHUMP00000231223;OTTHUMP00000231224;OTTHUMP00000231225;protein inscuteable homolog APPROVED protein-coding ENSG00000188487 33116 610668 VALIDATED 731056 INS insulin After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 11 11 p15.5 2137585 2139015 - 2181009 2182439 - 1625118;1625120;1625121;1625124;1580863;2313694;2311115;2298713;2311111;2311114;2311137;2311109;2311131;2311112;2317259;2317245;2317247;2317253;2317262;2317273;2317268;2317266;2317248;2317250;2317260;4142788;6480464;6902909;6902896;6902897;6902908;6484113;6907045;7240710 11101842;1569197;9667398;17347799;9809695;16799061;17448147;19516902;18824271;18713300;19537357;19269197;3322910;17855560;19628082;19572116;19152242;18451997;12917331;2565624;8175958;19571666;19375425;20034470;20555424;22046295;9095092;19033255;22068113 14986111;7556975;9388210;8452530;9773776;9092559;8702995;14739855;10604997;15194403;1184755;381941;14615391;15792832;11443198;16604263;11742412;8524413;3553851;12946932;7688386;11500939;12138094;17925406;15473891;12135947;11278339;3518947;14744991;12881524;9498508;19491387;19445897;19434426;19367319;19336408;19324891;19321446;19321436;19321435;19247282;19190820;19188609;19188433;19141582;19115062;19094425;19073967;19073905;19064572;19052261;19051206;19020323;19000992;19000139;18996102;18983503;18981553;18951876;18940880;18853485;18839133;18834984;15305767;15277396;15240646;15237706;15230641;15220214;15220197;15185208;15170498;15163889;15161800;15126243;15111508;15095040;15070567;15047631;15046555;15028719;14979729;14749349;14715866;14707040;14693412;14679083;14671204;14671189;14671163;14659752;14657411;14651526;14647005;14633852;14616883;14607844;14551916;14426955;17337306;17327454;17327422;17311896;17310371;17299081;17291451;17284223;17279313;17242212;17192483;17192475;17157312;17130532;17127405;17116217;17105729;17103462;17068290;17065334;17053071;17052889;17011566;17011062;16996478;16951936;16949073;16885156;16868061;16866381;16835468;16800793;16799400;16751187;16741735;16736556;16731859;16731532;16691379;16629714;16614815;16608900;16595598;16552513;16531418;16519889;16497805;16418171;16390390;16380501;16362283;16344925;16344718;16307231;16276008;16251897;16246845;16123374;16081366;16025839;16025255;16006430;15983206;15956745;15956217;15949705;15936461;15929679;15928253;15922332;15920061;15919610;15889096;15880482;15834700;15705917;15705595;15699505;15684637;15678496;15632182;15613433;15610006;15591776;15589123;15583859;15581831;15561961;15538935;15529622;15489334;15367890;15351621;18719673;18716398;18692115;18662362;18660489;18620562;18582564;18520331;18483566;18441389;18417529;18404969;18388898;18375961;18310307;18307789;18305020;18294642;18292987;18284601;18283260;18283256;18283245;18279373;18220656;18216377;18211635;18198311;18198306;18192540;18171712;18162506;18157793;18093308;18090240;18085551;18083784;18077505;18072146;18070774;18057381;18040865;18039812;18039179;18029348;18029081;17993259;17972051;17957153;17937736;17923791;17920639;17914103;17901401;17898179;17890489;17846745;17828388;17805200;17726611;17700581;17698984;17675047;17667841;17652220;17632545;17620332;17616349;17586504;17554260;17553505;17520407;17513702;17506723;17497031;17479246;17473382;17471492;17468256;17464100;17461431;17437081;17433504;17416760;17348446;17344504;17342078;17341563;21203503;21412422;21437235;21448434;21203453;12952878;12930990;12821730;12803245;12750767;12721156;12715715;12709672;12654724;12639765;12637980;12631734;12624089;12620428;12610512;12589110;12529491;22193626;22403629;9830016;6424111;6382002;6351842;6312455;6253909;6248962;6243748;5560404;5101771;4803504;4698555;4698553;4443293;4019786;3537011;3511099;3470784;2550426;2271664;2196279;2036420;1959628;1851182;1646635;1601997;1433291;1406615;503234;195962;15616007;15265780;6927840;12479880;12477932;12441313;12404181;12392301;12378388;12364457;12189018;12186542;12182905;12133430;12111440;12101177;12086926;12079889;12072386;12051853;12047362;12032154;12029093;12021212;11978629;11953210;11937112;11912547;11866509;11800057;11779865;11779231;11739440;11738155;11606170;11511079;11502799;11398136;11376336;11347740;11145591;11140838;10969839;10966857;10909971;10497219;10084601;9235985;9141561;8971927;8496180;8421693;8358440;7716547;7477119;7350438;7027261;22547909;22468791;22567146;22718751;21094141;21059249;21361910;21073664;21427225;21336277;20655470;19025443;19913121;20361993;20564319;20607677;20628086;20647273;20805278;19249902;20142200;20738396;20808760;20566319;10938588;12660731;13658959;15342556;17051221;19037607;19146426;19214176;19338578;19430480;19463742;19466592;19556358;19578600;19578796;19680231;19683528;19688775;19709092;19727662;19742322;19767753;19769745;19778377;19785038;19833889;19845278;19885595;19913026;19935854;19948072;19950226;20007936;20033399;20054344;20106974;20119675;20133622;20133841;20190549;20203524;20208155;20226046;20232313;20332111;20345871;20357092;20378605;20468064;20535137;7818556;9631292;20098959;20739464;19602055;20628762;20734064;20849903;20863361;20138117;20357430;20587420;20679359;20724178;21054880;20391195;19898946;21036154;20301620;20938745;21352425;21193298;21507316;21660954;21559376;21251282;21281583;11387233;22751690;22748134;23092880;23302862;21193618;21308844;21454690;21454697;20455999;21574953;21724851;21646299;21823539;21302286;21813805;21462967;21473587;21544516;21566073;18840770;21816162;21867683;21900206;21911493;21887289;22005517;22940118;23227203;21871813;22033917;22065581;22095122;22167125;22167126;22068552;22082268;22003494;22393448;22379117;10644978;21592955;21707690;21829393;21906630;22132167;22132232;22235272;22242132;22253890;22297303;22307032;22315413;22319034;22357962;22378730;21442164;22383948;21711374;22065208;22359667;22465905;22763970;23223446;23447530;23043361;23275337;10383393;22290178;22972030;23133528;23321478;23510797;22883454;22918957;21832049;22739332;22949029;22967498;22967500;23018458;17487982;22229322;22577092;22950808;23697264;22982989 3630 A6XGL2;C9JNR5;I3WAC9;P01308 ABBA01032100;AC132217;AJ009655;AMYH01003319;AY138590;AY899304;BC005255;BM510347;BM510748;BP322143;BT006808;CH471158;J00265;JF909299;JQ951950;L15440;M10039;NG_007114;NM_000207;NM_001185097;NM_001185098;V00565;X70508 AAA59172;AAA59173;AAA59179;AAH05255;AAN39451;AAP35454;AAW83741;ABM83966;ABM87282;AEG19452;AFK93533;CAA08766;CAA23828;CAA49913;EAX02488;EAX02489;NP_000198;NP_001172026;NP_001172027;P01308 Hs.272259 1681803;1694904;1741235;1741327;1741547;1742581;1743425;1801872;1804956;1806132;2091632;2190719;5491330;5492137;5492155;5492164 ECD01817;ECD03418;ECD04020;G44339;GDB:179433;GDB:180498;GDB:181496;GDB:197907;GDB:316225;Ins1;Ins2;PMC123023P3;PMC21231P1;PMC24644P6;REN117096;RH75852 IDDM2;ILPR;IRDN;MODY10 OTTHUMP00000011161;OTTHUMP00000011162;OTTHUMP00000196036;OTTHUMP00000196038;OTTHUMP00000217519;insulin;preproinsulin;proinsulin APPROVED protein-coding ENSG00000254647 6081 01455 125852;176730;606176;613370 REVIEWED 1319934 INSM1 insulinoma-associated 1 Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008] 20 20 p11.2 20296765 20299593 + 20348765 20351593 + 1580863;6480464 18417529;18205207;16569215;12890672;12079283;11854618;11842116;11780052;9245732;8188699;1634555;16169070;19246490;20215568;19604042;21609490;21830214;18051367 3642 Q01101 ABBA01054088;ABBA01054089;AL161658;AMYH01011762;AMYH01011763;BM503821;M93119;NM_002196;U07172 AAA20938;AAA58680;NP_002187;Q01101 Hs.89584 1791298;2108171;2120266;2121433;2139832;5492755 D20S1101;INSM1_8421;PMC100352P1;RH67943;STS-M93119;UniSTS:482301 IA-1;IA1 OTTHUMP00000030378;insulinoma-associated protein 1;zinc finger protein IA-1 APPROVED protein-coding ENSG00000173404 6090 02480 600010 REVIEWED 735428 INSIG2 insulin induced gene 2 The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008] 2 2 q14.2 118562520 118584067 + 118846050 118867597 + 2308857;2317203;6480464 15096598;19933148 19399648;19360016;19263810;19224890;19197262;19197259;19105843;18989534;18839134;18682847;18660489;18615239;18570692;18514965;18464289;18426866;18398047;18347269;18319320;18270535;18239574;18223638;18195716;18162505;18070740;18003761;17489846;17471297;17465681;17428920;17137505;16614226;16606821;16549805;14702039;12842885;12624180;12482938;12477932;12242332;19523229;19638338;19740467;19772594;19851442;19948975;20007308;20028541;20045156;20083228;20092643;20145255;20373477;20504252;20858904;19913121;20628086;20645959;20653998;20816152;20538960;20712903;20816195;20877301;20920244;20955599;21163096;22968099;21443541;21544599;19617589;19815544;22020349;22143767;21978759;22355322;22504420 51141 F8WCG8;Q9Y5U4 ABBA01045944;AC009303;AF125392;AF527632;AK021692;AK291433;AK298599;AL080184;AMYH01010985;BC022475;BX647805;CH471103;NM_016133 AAD43048;AAH22475;AAN28333;AAX93280;BAF84122;BAG60785;EAW95199;EAW95200;NP_057217;Q9Y5U4 Hs.7089 1699334;1768797;1778264;2118254 RH103254;RH11985;STS-AA009428;WI-15665 MGC26273 INSIG-2;INSIG2 membrane protein;OTTHUMP00000064464;insulin induced protein 2;insulin-induced gene 2 protein APPROVED protein-coding ENSG00000125629 20452 16361 608660 REVIEWED 736797 INSL3 insulin-like 3 (Leydig cell) This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 19 19 p13.2-p12 17788322 17793320 - 17927322 17932383 - 1600162;1580863;6480464;7240710 12601553 8253799;8020942;19416220;19416190;19416188;19416166;19086273;19017913;18772597;18611973;18433302;18310050;18063691;17666478;17559848;17549672;17473281;17437853;17356050;17028442;17014531;16867980;16687567;16467267;16394084;16010410;15956751;15956746;15755855;15708846;15592455;15579790;15579743;15489334;15340161;15057824;14615376;12970298;12684664;12477932;12200137;12114498;11746019;11383919;11380919;11182749;11147585;11095425;10982185;10899310;10759163;10729310;10451226;10391220;9753072;9354668;8662778;8034302;8022790;8022486;7852540;7659163;17314233;7559633;22574850;20570702;12506116;15649866;19067106;19226271;19329805;19423540;19755411;19773279;20082125;20200332;20406964;20438785;19950223;19110449;12036966;20713036;20550598;23028900;20560146;22216350;21586896;23539510;23150680 3640 M0QXQ3;P51460 ABBA01051232;ABBA01051233;AC005952;AC007201;AK302780;AMYH01009576;AY082014;BC032810;BC040435;BC053345;BC061886;BC071706;BC106721;BC106722;BC107045;BX334591;CH471106;HC007042;NG_012092;NM_001265587;NM_005543;S72482;X73637 AAB31371;AAD22740;AAH32810;AAH53345;AAH71706;AAI06722;AAI06723;AAL92559;BAG63984;CAA52017;CBH19326;EAW84633;EAW84634;EAW84635;EAW84636;NP_001252516;NP_005534;P51460 Hs.37062 1669313;2118274 D19S992;RH70894 MGC119818;MGC119819;RLF;RLNL;ley-I-L insulin-like 3;ley-I-L;leydig insulin -like hormone;leydig insulin -like peptide;leydig insulin-like peptide;prepro-INSL3;relaxin-like factor b APPROVED protein-coding ENSG00000248099 6086 08854 146738;219050 REVIEWED 1352498 INSRL insulin receptor-like 3644 6092 1346961 INSRR insulin receptor-related receptor 1 1 q21-q23 155077289 155095290 - 156810665 156828712 - 1580863;6480464;6907045 10226785;18660489;16195402;15629149;14654552;10640820;10535406;10329736;8916919;7829525;7649121;2768234;2249481;1326521;20734064 3645 P14616 ABBA01016643;AF064078;AK310760;AL158169;AMYH01001441;CH471121;J05046;JQ991924;NG_007493;NM_014215 AAC17167;AAC31759;AAI56082;AAI57045;AFM93766;EAW52903;EAW52904;NP_055030;P14616 Hs.248138 1339404 D1S1179 IRR IR-related receptor;OTTHUMP00000038715;insulin receptor-related protein protein-coding ENSG00000027644 6093 00976 147671 VALIDATED 1346059 INSSA1 insulin synthesis associated 1 50607 6094 1342587 INSSA2 insulin synthesis associated 2 50606 AW600301 protein-coding 6095 1347615 INSIG1 insulin induced gene 1 Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jun 2009] 7 7 q36 154720476 154732879 + 155089486 155101945 + 1580863;2308857;2308858;2317203;6480464 15096598;16327801;19933148 16168377;9268630;18989534;18835813;18660489;18195716;18187584;17106696;17043353;16606821;16549805;16399501;16344560;15899885;15489334;15304479;15247248;15085196;14702039;14660594;12963821;12869692;12842885;12690205;12535518;12482938;12477932;12242342;12242332;12202038;12115587;15782218;19638338;19740467;19815544;19965593;20444954;20877301;19913121;20628086;23223569;19458199;20068067;19322201;19617589;20458442;21343306;21906983;22143767;22648509;22505724 3638 C9JSG8;F5H6P3;H7C5L3;O15503 AA565248;AACC02000117;ABBA01015989;ABBA01015990;AC144438;AC144652;AC231970;AF086365;AK095977;AK291675;AL541939;AMYH01018179;AY112745;BC001880;BI550548;BI918342;BM995866;BQ059075;BT007227;CH236962;CH471149;DA590854;DA738378;DN996424;NM_005542;NM_198336;NM_198337;U96876 AAB69121;AAH01880;AAM44086;AAP35891;BAF84364;EAL23728;EAL23729;EAL23730;EAX04529;EAX04530;EAX04531;EAX04532;NP_005533;NP_938150;NP_938151;O15503 Hs.520819 1651780;1653428;1735718;1735720;2147923 D7S2171E;D7S2172E;RH47239;WI-11991;WI-13602 CL-6;CL6;MGC1405 INSIG-1 membrane protein;OTTHUMP00000216469;OTTHUMP00000216470;OTTHUMP00000216471;insulin-induced gene 1 protein APPROVED protein-coding ENSG00000186480 6083 03633 602055 REVIEWED 1354230 INSL4 insulin-like 4 (placenta) INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008] 9 9 p24 5221419 5223967 + 5231419 5233967 + 1580863;6480464 8666396;8702754;18035692;15958731;15489334;15340161;15164053;12606452;12477932;12414911;9740319;9730618;9284764;19915573 3641 Q14641 ABBA01065416;AK291543;AL133547;AMYH01019201;BC026254;CH471071;HC007044;HC044711;L34838;NM_002195 AAB08516;AAH26254;BAF84232;CBH19327;CBH30685;EAW58772;NP_002186;Q14641 Hs.418506 1846863;2178382;2185206;5107881 A005C10;G20266;RH17848;SHGC-34067 EPIL;PLACENTIN OTTHUMP00000021025;early placenta insulin-like peptide;early placenta insulin-like peptide (EPIL);insulin-like peptide 4 APPROVED protein-coding 6087 02946 600910 REVIEWED 1350939 INSL5 insulin-like 5 The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008] 1 1 1 p31.3 65553402 65556917 - 67036012 67039527 - 67263424 67266942 - 1580863;6480464 12975309;12477932;10458910;8702754;19178384;15525639;15489334;15340161;20800603;2834384;18577758 10022 Q9Y5Q6 ABBA01074527;AF133816;AL354978;AMYH01000688;AY359030;BC101646;BC101648;CH471059;NM_005478 AAD29686;AAI01647;AAI01649;AAQ89389;EAX06516;NP_005469;Q9Y5Q6 Hs.251380 2106521 INSL5__6469 MGC126695;MGC126697;PRO182;UNQ156 OTTHUMP00000010744;insulin-like peptide 5;insulin-like peptide INSL5;prepro-INSL5 APPROVED protein-coding ENSG00000172410 6088 08400 606413 REVIEWED 737125 INSL6 insulin-like 6 The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008] 9 9 9 p24 5089480 5111235 - 5153863 5175618 - 5163863 5185618 - 61639;1580863;6480464 10819760 10598589;15489334;15164053;12477932;19915573 11172 Q9Y581 ABBA01065416;AF135824;AF156094;AL161450;AMYH01019201;AW117587;BC126473;BC126475;CH471071;HC007046;HC044515;NM_007179 AAD39003;AAF29604;AAI26474;AAI26476;ADR82756;CBH19328;CBH30587;EAW58773;NP_009110;Q9Y581 Hs.632648 2109437 INSL6_9233 RIF1 OTTHUMP00000021023;insulin-like peptide 5;insulin-like peptide 6;insulin-like peptide INSL6;relaxin/insulin-like factor 1 APPROVED protein-coding ENSG00000120210 6089 08401 606414 REVIEWED 1315853 INSM2 insulinoma-associated 2 14 14 14 q13.2 15867108 15870120 + 35072999 35076011 + 36003248 36006260 + 1580863;6480464 14702039;12477932;21343251;20211142;20091020 84684 Q96T92 AB037912;ABBA01061507;AF260323;AK096639;AL160231;AMYH01005666;BC130377;BC130379;CH471078;NM_032594 AAI30378;AAI30380;AAK49393;BAB69042;BAC04830;EAW65872;NP_115983;Q96T92 Hs.62813 IA-6;IA6;mlt1 OTTHUMP00000178845;insulinoma-associated protein 2;insulinoma-associated protein IA-6;zinc finger protein IA-6 protein-coding ENSG00000168348 17539 17152 614027 VALIDATED 1606257 INTS2 integrator complex subunit 2 INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 17 17 17 q23.2 59043908 59106528 - 57297513 57360159 - 59942728 60005377 - 6480464 16239144;11256614;16381901;15489336;11230166;11076863;10574462;20133760;22939629;21139048;21906983;22053931;22505724 57508 J3KMZ7;J3KRH0;Q9H0H0 AB033113;ABBA01035375;ABBA01035376;AC060798;AK299032;AK308307;AL136800;AMYH01008536;AMYH01008537;AMYH01008538;AMYH01008539;BK005721;CH471179;CR533582;NM_020748;NR_026641 BAA86601;BAG61107;CAB66734;CAG38656;CAL38257;DAA05721;EAW51434;EAW51435;EAW51436;NP_065799;Q9H0H0 Hs.279646 2187578;5015619 D11S3114;RH46380 INT2;KIAA1287 integrator complex subunit 2 APPROVED protein-coding ENSG00000108506 29241 11137 611346 VALIDATED 69029 INSR insulin receptor After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3-p13.2 7063266 7245011 - 7112266 7294011 - 1302524;1300048;1302526;1625124;1302525;1302523;1580863;1299201;1580595;1302575;2290465;2290446;2290447;2313694;2290454;2290460;2307338;2307339;2307341;2307335;2307343;2307333;2307336;2307025;2307334;2307342;2307344;2290462;2290475;6480464;6484113;6907045;7240710 11877471;15254588;17347799;14722613;10949030;12891559;12850498;12110165;8518410;18042933;17221153;9809695;17556377;15967097;18430054;18376071;17050616;19224872;18925540;19340286;19179458;18638371;19251743;18972094;18331706;15753986;17855644 12477518;12468540;12456798;12420346;12270939;12237775;12237455;12193537;12153558;12125099;12112020;12107746;12031977;12023989;11997497;11994298;11875066;11866509;11735220;11726652;11694516;11606564;11551902;11506178;11409918;11401470;11374898;11342531;11279102;11266508;11260230;11232039;11208515;11158333;11094073;11075717;11071852;10978177;10921922;10896916;10830280;10816433;10805733;10803466;10764799;10733238;10650943;10635327;10598578;10594240;10482988;10453981;10443650;10437794;10196204;10084586;10026153;9819414;9756945;9748281;9742218;9741627;9722981;9710204;9703342;9658397;9524259;9507031;9506989;9492017;9449692;9446569;9428692;9398630;9355745;9312016;9299395;9249867;9199575;9197239;9195949;9175790;9122188;9121430;9092546;9083103;8916919;8900242;8890729;8826975;9092559;7559478;8276809;8440175;7537849;8452530;12138094;6849137;17001305;7556070;7693131;11500939;17925406;3518947;11001060;10747347;1898103;12881524;15182363;2986535;15069075;19387820;19246519;19211708;19139090;19135752;19064572;19047369;18996102;18991400;18828733;18785179;18767165;18716398;18711691;18708119;18693051;18676680;18660489;18616667;18556968;18535540;18455362;18348886;18318661;18249389;18048361;17965293;17957771;17914103;17855343;17854350;17658524;17577576;17563366;17563065;17475934;17434141;17416760;17374711;17348446;17344070;17340225;17325037;17275003;17229154;17201797;17102568;17078079;16962112;16946708;16831875;16814253;16806206;16761106;16510536;16473310;16382134;16314505;16137651;16127460;16084832;15951569;15938783;15862945;15799978;15745246;15738637;15715521;15708546;15694368;15632081;15629149;15590636;15588985;15582274;15581831;15563471;15522217;15498182;15485753;15337529;15240646;15233842;15205474;15192089;15169905;15161766;15114529;15061947;14729945;14722023;14693412;14690593;14568990;14551916;12970295;12878213;12850828;12738810;12734206;12732844;12730241;12711007;12665574;12654724;12634852;12613967;12612081;12575209;12560330;12538626;12493740;12477932;10615944;8702728;8692915;8662806;8639568;8636294;8626379;8621530;8557631;8513978;8504096;8496180;8463311;8463287;8458533;8454633;8432414;8419945;8390949;8388389;8385099;8347587;8326490;8314008;8288049;8243830;8242067;8188715;8135823;8114715;8101305;8096518;8082780;8027066;7997262;7983039;7929343;7926007;7906861;7895674;7860063;7836419;7815442;7806540;7794689;7657032;7626603;7613486;7592607;7538143;7535775;7529876;7512963;7493946;7479769;7028018;3680248;3546306;3447155;3283938;3166375;3109943;3101064;2983222;2859121;2842060;2834824;2806055;2777789;2573522;2566545;2550426;2544998;2544997;2538124;2479553;2460770;2369896;2365819;2280779;2211730;2210055;2168397;2121734;2040394;2002058;1993068;1986371;1971035;1963473;1956339;1890161;1730625;1657953;1648089;1644241;1607076;1607067;1563582;1472036;1373652;1331107;1324934;1321605;1321126;1315125;1314826;1304913;185872;8912646;10871840;9006901;12504111;12031982;11604231;15924147;15735664;8603569;10340378;22017372;21300347;20421297;20568733;20624623;21139137;11289049;12660731;16582879;17159996;18834871;19051206;19167335;19170196;19170714;19219452;19326042;19406747;19459609;19541767;19560451;19575708;19578796;19625176;19654240;19688022;19692168;19720790;19815552;19817984;19835884;19926323;19948975;19950604;19996272;20068229;20200332;20348418;20360006;20416077;20468064;20493471;7935368;9819385;20009360;20620597;20734064;20849815;20855565;20857837;20971123;21082232;19898946;16434550;20339196;19913121;20602615;20628086;20634197;21113646;21318406;21487008;20674666;21346174;21441570;21123448;21535266;22879999;23018458;22541124;22629383;22775283;21204696;21645371;22974441;21177763;21410323;21524684;21913804;22081023;20360068;21908557;21680660;21906983;22046260;22082268;22132154;21838706;22768670;22971162;17445799;17620296;22705438;22318726;22466604;22590634;22318606;22438913;21869538;22099628;22140443;22140505;22161861;22189999;22278432;22493691;20881960;15514089;15031295;22885925;23302862;23251408;23363253;22982059;15767667;23059533;23263486;23408906;11781100;21963094;21987572;21988832;22404968;23190452;21602145;15664450;22505724;22825921;22278734;22534794;23697264 3643 M0R3E6;P06213 AB208861;ABBA01051482;ABBA01051483;ABBA01051484;ABBA01051485;ABBA01051486;ABBA01051487;ABBA01051488;ABBA01051489;ABBA01051490;ABBA01051491;ABBA01051492;ABBA01051493;ABBA01051494;ABBA01051495;ABBA01051496;ABBA01051497;AC010311;AC010526;AC010606;AC125387;AK025527;AL365454;AMYH01009389;AMYH01009390;AMYH01009391;BC047591;BC117172;CH471139;DQ021481;DQ311687;DQ311689;DQ311690;DQ333191;DQ333192;DQ333193;DQ333194;DQ333195;DQ333196;EU331144;J03466;J05043;M10051;M24555;M27197;M29929;M29930;M32972;M76592;NG_008852;NM_000208;NM_001079817;S76825;X02160 AAA59174;AAA59175;AAA59176;AAA59177;AAA59178;AAA59190;AAA59452;AAA86791;AAB33426;AAC37604;AAH47591;AAI17173;AAY44085;ABC46548;ABC46549;ABC46550;ABC46551;ABC46552;ABC46553;ABC55359;ABC55361;ABC55362;ABY54905;BAD92098;CAA26096;EAW69042;EAW69043;EAW69044;EAW69045;EAW69046;EAW69047;NP_000199;NP_001073285;P06213 Hs.465744 1667121;1675353;1679962;1687560;1690099;1690340;1721685;1740993;1741105;1741743;1744503;1787762;1792512;2128448;2148225;2168913;2172560;2218554;5020992;5117326;5119549 G07087;G10600;G59704;GDB:177221;GDB:177257;GDB:177803;GDB:182561;GDB:511361;GDB:511368;INSR_4112;Insr;PMC152545P1;RH45939;RH66229;RH80156;RH80628;RH92589;RH93377;SHGC-173117;SHGC-32871;STS-X02160 CD220;HHF5 IR;insulin receptor APPROVED protein-coding ENSG00000171105 6091 00975 147670;246200;262190;609968;610549 REVIEWED 1601748 INTS12 integrator complex subunit 12 INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 4 4 4 q24 103902937 103929034 - 106823233 106849278 - 106603784 106629881 - 6480464 17207965;21252943;16239144;15489334;12477932;20010835;20332099;20133760;21832049;19471022;21139048;21693764;18562274;23284291 57117 C9J0M6;C9JDP3;D6R9W3;D6R9Y5;E9PGI3;Q96CB8 ABBA01063735;AC105391;AF242524;AK314939;AMYH01014443;BC014442;BK005729;CH471057;CS300539;NM_001142471;NM_020395 AAF99604;AAH14442;ADQ31768;BAG37445;CAK32203;DAA05729;EAX06189;EAX06190;NP_001135943;NP_065128;Q96CB8 Hs.480454 2140023;2156252;2167667;2171920;2178768;2186703 D4S2512E;G33860;G33866;RH12718;SHGC-59800;SHGC-8562 INT12;PHF22;SBBI22 OTTHUMP00000161874;OTTHUMP00000161875;OTTHUMP00000197660;PHD finger protein 22;hypothetical nuclear factor SBBI22;integrator complex subunit 12 APPROVED protein-coding ENSG00000138785 25067 11271 611355 VALIDATED 1606801 INTS1 integrator complex subunit 1 INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 7 7 7 p22.3 1477287 1511447 - 1476439 1513199 - 1509913 1544018 - 6480464 15489334;14702039;12975309;12477932;10718198;16421571;16344560;16239144;16169070;17643375;20133760;21252943;21139048;21890473;21906983;21987572;22118674;22586326 26173 A4D212;H7C582;Q9Y3W8 AACC02000053;AB037861;ABBA01039343;AC093734;AC102953;AI935093;AK128368;AL050110;AL137358;AMYH01016959;AMYH01016960;AY358482;BC004286;BC013367;BC018777;BC069262;BF346658;BK005720;BM547069;BM553299;BX324321;CH236953;DB113520;NM_001080453 AAH04286;AAH13367;AAH18777;AAH69262;AAQ88846;BAA92678;CAB43278;CAB70710;DAA05720;EAL23941;EAL23942;NP_001073922;Q8N201 Hs.532188 1704026;2140492 SHGC-77811;STS-W93022 DKFZp586J0619;FLJ46624;INT1;KIAA1440;NET28 OTTHUMP00000200439;integrator complex subunit 1 APPROVED protein-coding ENSG00000164880 24555 611345 VALIDATED 1602701 INTS10 integrator complex subunit 10 INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 18638388 18673063 + 19719198 19753869 + 19674918 19709589 + 6480464 14702039;12620389;16239144;18193046;15489334;12477932;20133760;18029348;18562274;23505323;21906983;21907836;22076464 55174 E5RHN1;E5RJN5;H0YAU7;H0YAY7;H0YB36;H0YB48;H0YBB0;H0YBH6;H0YBW3;H0YC09;Q9NVR2 ABBA01021553;AC107964;AI479676;AK001431;AK092931;AL442078;AMYH01018558;BC001915;BC006209;BC051282;BK005727;BM547763;CH471080;CR457262;NM_018142 AAH01915;AAH06209;AAH51282;BAA91687;CAC09444;CAG33543;DAA05727;EAW63765;EAW63766;EAW63767;EAW63768;EAW63769;NP_060612;Q9NVR2 Hs.512627 1644597;1644599;1776899;1856385;2120941;2133909;2142887;2168564;2172882;2185125 A001Y30;D8S1645;G19791;G32155;G33452;IB1194;RH11513;RH16175;SHGC-35965;SHGC-36691 C8orf35;FLJ10569;INT10 OTTHUMP00000161699;integrator complex subunit 10 APPROVED protein-coding ENSG00000104613 25548 07686 611353 VALIDATED 1603513 INTS4L1 integrator complex subunit 4-like 1 7 7 7 q11.21 58743456 58746141 - 64239021 64310646 + 64601620 64673211 + 12477932;21906983 285905 Q96LV5 AC104073;AK057766;AMYH01017450;AMYH01017451;AMYH01017452;AMYH01017453;AMYH01017454;AMYH01017455;XR_158834;XR_159091;XR_171688 BAB71563;Q96LV5 Hs.567827 FLJ25037;MGC133166 pseudo 21925 08045 MODEL 6768994 INTS6P1 integrator complex subunit 6 pseudogene 1 5 p13.1 39719086 39721614 - 16007164 285634 ABBA01024215;AC093217;AMYH01015043;NG_021845 1699466 RH103325 pseudo 43921 INFERRED 1603936 INTS4 integrator complex subunit 4 INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 11 11 11 q14.1 74898249 75014187 - 77267414 77383365 - 77589766 77705717 - 6480464 16239144;15489334;12477932;17010949;17643375;20133760;22939629;19471022;21139048;21693764;21906983;16751776;22250197;22505724;22797925 92105 E9PIM3;F8WAA7;Q96HW7 ABBA01017416;ABBA01017417;AF172822;AK000455;AK290866;AL834171;AMYH01003825;AP002812;AP003032;BC006369;BC008013;BC009859;BC009995;BC015664;BC018672;BE727962;BK005723;CH471076;DQ596928;NM_033547 AAH06369;AAH08013;AAH09859;AAH09995;AAH15664;AAQ13616;ABZ92084;BAF83555;DAA05723;EAW75041;NP_291025;Q96HW7 Hs.533723 1649353;1672135;5015621;5037552 D11S3732;D8S2279;RH12075;WI-12358 INT4;MGC16733;MST093 MSTP093;OTTHUMP00000233860;integrator complex subunit 4 APPROVED protein-coding ENSG00000149262 25048 12386 611348 VALIDATED 2306249 INTS4L2 integrator complex subunit 4-like 2 7 7 7 q11.21 74910883 74975602 - 64758856 64826072 + 65112777 65183632 + 9847074;15489334;12477932;22939629;21906983 644619 Q2T9F4 ABBA01008770;AC073107;AC104057;AMYH01017475;AMYH01017476;AMYH01017477;AMYH01017478;AMYH01017479;AMYH01017480;AMYH01017481;BC111554;NR_027392 AAI11555;Q2T9F4 Hs.676517 MGC133166 pseudo ENSG00000232270 22351 VALIDATED 1603299 INTS3 integrator complex subunit 3 INTS3 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]). INTS3 is also a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 1 1 1 q21.3 126772168 126818149 + 151967191 152013179 + 153700567 153746555 + 6480464 16239144;16710414;15489334;15302935;14702039;12477932;11483580;8125298;17643375;18449195;19605351;19683501;19759019;19786574;20133760;21832049;22939629;19322201;21252943;19471022;21139048;21693764;21890473;21906983 65123 H0Y8Z1;Q8NC46 ABBA01049448;ABBA01049449;ABBA01049450;AF130066;AK025572;AK055174;AK074979;AK126799;AK225294;AK290025;AK298746;AK304874;AL080172;AL513523;AL832133;AMYH01001406;BC025254;BC054513;BC073985;BC098431;BC105092;BC105094;BC116458;BK005722;BX640786;BX640950;CH471121;CR627233;CR749212;CR749376;NM_023015 AAG35494;AAH25254;AAH54513;AAH73985;AAH98431;AAI05093;AAI05095;AAI16459;BAB15174;BAC11329;BAF82714;BAG60890;BAG65611;CAE45876;CAE45974;CAH10366;CAH10398;CAH18069;CAH18229;DAA05722;EAW53279;EAW53280;EAW53281;EAW53282;EAW53283;NP_075391;Q68E01 Hs.516522 1649274;1676123;1734638;1752101;1856468;5014063 AFMa082wc1;D15S1390;D1S1775E;RH80662;SHGC-106037;WI-15199 C1orf193;C1orf60;DKFZp686E1950;DKFZp686O20115;DKFZp781I1253;FLJ21919;FLJ44849;INT3;RP11-216N14.2;SOSS-A OTTHUMP00000035161;OTTHUMP00000038687;OTTHUMP00000222672;RP11-216N14.4;SOSS complex subunit A;integrator complex subunit 3;sensor of single-strand DNA complex subunit A;sensor of ssDNA A;sensor of ssDNA subunit A APPROVED protein-coding ENSG00000143624 26153 08644 611347 VALIDATED 5687502 INTS6-AS1 INTS6 antisense RNA 1 13 52027477 52028852 + 12477932 100507398 ABBA01051048;AL354820;AMYH01005116;BC045725;NR_103812;XR_110124;XR_111386;XR_172006 Hs.594897 APPROVED miscrna ENSG00000236778 42691 VALIDATED 1603295 INTS5 integrator complex subunit 5 INTS5 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] 11 11 11 q12.3 59743866 59750321 - 62170896 62177350 - 62414320 62420774 - 6480464 16239144;15489334;15302935;14702039;12477932;11214970;20133760;22797925 80789 Q6P9B9 AB051485;ABBA01003232;AK074261;AK123587;AMYH01003690;AP001458;BC028025;BC060841;BK005724;CH471076;NM_030628 AAH28025;AAH60841;BAB21789;DAA05724;EAW74051;NP_085131;Q6P9B9 Hs.458390 1686180;1773663;2182653 G17565;IB3108;RH80481 INT5;KIAA1698 OTTHUMP00000236323;integrator complex subunit 5 APPROVED protein-coding ENSG00000185085 29352 13883 611349 PROVISIONAL 1348101 IOSCA infantile onset spinocerebellar ataxia (autosomal recessive) 7240710 3648 6103 271245;609286 1348932 IP1 incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements) 6104 1346242 IP2 incontinentia pigmenti 2 (familial, male-lethal type) 7240710 6105 300291;300301;300584;300636;300640;308300 1319793 INTU inturned planar cell polarity protein 4 4 4 q28.1 125933098 126016912 + 128773570 128857380 + 128554087 128637934 + 737633;1580863;6480464 12477932 10574462;16493421;15815621;15489334;14702039;16344560;21761479;21948523 27152 H0YA54;H0YAI1;J3QTA5;Q9ULD6 AB033110;ABBA01044793;ABBA01044794;AC093591;AC097462;AC110797;AK123320;AK291481;AMYH01014509;BC051698;BC130611;BC144182;CH471056;CS300683;DB195553;DB302901;HQ234311;NM_015693 AAH51698;AAI30612;AAY41002;ADR83432;BAA86598;BAF84170;BAG53888;CAK32347;EAX05201;EAX05202;NP_056508;Q9ULD6 Hs.391481 1698592;1752995;2138460;2219484;5020279 D4S2567E;G34402;PDZK6__5855;RH102848;SHGC-77921 FLJ41326;INT;KIAA1284;PDZD6;PDZK6 OTTHUMP00000219892;PDZ domain containing 6;PDZ domain-containing protein 6;homolog of inturned;inturned planar cell polarity effector homolog;protein inturned APPROVED protein-coding ENSG00000164066 29239 15113 610621 VALIDATED 1319842 INTS6 integrator complex subunit 6 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and located in the critical region of loss of heterozygosity (LOH). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 32984868 33076442 - 50833702 50925276 - 51935701 52027275 - 1580863;6480464 10467397;16239144;18029348;16271964;16007164;15489334;15254679;15057823;14702039;12527901;12477932;11939413;20133760;22360420;21906983;17310990;21963094;23280823 26512 B3KQH5;B4DL13;B4E1J5;C9J0C6;C9J885;C9JAV7;C9JVX2;C9JXP6;C9K0V7;F8WAV7;F8WBG1;G5E9X1;Q9UL03 ABBA01051048;AF097645;AF141326;AK074946;AK096696;AK128795;AK296801;AK303869;AK304218;AL117626;AL137780;AL354820;AL833524;AMYH01005116;BC013358;BC018725;BC032386;BC039829;BC040581;BC094745;BK005730;CH471075;NM_001039937;NM_001039938;NM_012141 AAD39481;AAF03046;AAH13358;AAH18725;AAH32386;AAH39829;BAG52037;BAG53352;BAG54738;BAG59375;BAG64807;BAG65090;CAB56020;DAA05730;EAX08873;EAX08874;EAX08875;EAX08876;EAX08877;EAX08878;EAX08879;EAX08880;EAX08881;NP_001035026;NP_001035027;NP_036273;Q9UL03 Hs.439440 1658924;1699466;1709768;1731809;2109223;2187166 D13S315;DDX26_9492;RH103325;RH47936;SHGC-84699;WI-22746 DBI-1;DDX26;DDX26A;DICE1;DKFZp434B105;HDB;INT6;Notchl2 DEAD box protein;DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26;OTTHUMP00000018439;OTTHUMP00000215034;OTTHUMP00000215036;OTTHUMP00000215038;OTTHUMP00000215039;RNA helicase HDB;integrator complex subunit 6;protein deleted in cancer 1 APPROVED protein-coding ENSG00000102786 14879 05063 604331 REVIEWED 1604023 INTS7 integrator complex subunit 7 This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 1 1 1 q32.3 185341779 185435963 - 210181321 210275507 - 212113741 212209002 - 6480464 16239144;16381901;15489336;15489334;14702039;12477932;11230166;11076863;17643375;20379614;16344560;18213392;20457598;22939629;22990118;20133760;21987572;21139048;21890473;21906983;22365631;22505724 25896 Q9UFC6 ABBA01048185;AC092814;AK001363;AK001598;AK022509;AK022589;AK297225;AL117576;AL133049;AMYH01001702;AMYH01001703;BC009918;BC020523;BC030716;BC033918;BC036009;BK005725;CH471100;DB062625;NM_001199809;NM_001199811;NM_001199812;NM_015434;NR_037667 AAH20523;AAH30716;AAH33918;BAA91650;BAA91779;BAB14067;BAB14116;BAG59708;CAB56000;CAB61376;CAL37532;DAA05725;EAW93400;EAW93401;EAW93402;EAW93403;EAW93404;EAW93405;EAW93406;NP_001186738;NP_001186740;NP_001186741;NP_056249;Q9NVH2 Hs.369285 1661715;1678327;1697040;1698946;1781688;2139601;2171980;5014051;5037552 AL010016;AL010091;D8S2278;D8S2279;RH101997;RH103042;RH92189;SHGC-155060;SHGC-53775 C1orf73;DKFZp434B168;INT7 OTTHUMP00000035211;OTTHUMP00000035212;OTTHUMP00000035213;integrator complex subunit 7 APPROVED protein-coding ENSG00000143493 24484 08522 611350 REVIEWED 1604022 INVS inversin This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012] 9 9 q31 101901332 102103247 + 102861502 103063426 + 6480464;7240710 20798123;19177160;18218308;17216245;16642442;16522655;16189514;15852005;15489334;15164053;12872123;12477932;12221118;11941489;9792867;8480178;15723066;15533716;19066617;18371931;21068128;15231748;22863007;21890473;15342556 27130 F5GZH2;Q2M1I4;Q9Y283 ABBA01042890;ABBA01042891;ABBA01042892;AF039217;AF084367;AF084382;AI792224;AK304851;AK312795;AL137072;AL356798;AL445214;AMYH01021570;AMYH01021571;BC006370;BC041665;BC056897;BC063847;BC072429;BC111761;BC112351;BP280580;CH471105;NG_008316;NM_014425;NM_183245;NR_051962 AAC79436;AAC79456;AAC79457;AAD02131;AAH06370;AAH41665;AAI11762;AAI12352;BAG65590;EAW58924;EAW58925;EAW58926;NP_055240;NP_899068;Q9Y283 Hs.558477 1687099;1735874;1770579;2125314;2137496;2186428 A008U06;D9S2039;D9S788;D9S998E;RH93259;SHGC-18202 INV;KIAA0573;MGC133080;MGC133081;NPH2;NPHP2 OTTHUMP00000021789;OTTHUMP00000021790;inversin;inversion of embryo turning homolog;inversion of embryonic turning;nephrocystin 2;nephrocystin-2 APPROVED protein-coding ENSG00000119509 17870 08356 243305;602088 REVIEWED 1603989 INTS9 integrator complex subunit 9 This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 8 8 8 p21.1 27585025 27707519 - 28681099 28803398 - 28625175 28747698 - 6480464 16239144;16421571;15684398;15489334;14702039;12477932;10493829;8125298;20133760;22863883;22939629;21890473;21906983;22252320;22505724 55756 E5RG70;E5RGY2;E5RJ88;E5RK47;G3XAN1;H0YBH8;H0YBK3;H0YBQ3;H7BYQ6;Q9NV88 AA825242;ABBA01005608;ABBA01005609;ABBA01005610;AC040975;AC131969;AK001733;AK225072;AK225530;AK295977;AK298468;AK300593;AK304525;AMYH01018605;BC016687;BC025267;BK005674;BK005726;CH471080;DC339488;NG_016981;NM_001145159;NM_001172562;NM_018250;NR_026826;U96629 AAB67601;AAH25267;ACE86526;ACE87205;BAA91867;BAH12233;BAH12796;BAH13311;BAH14206;DAA05670;DAA05726;EAW63504;EAW63505;EAW63506;NP_001138631;NP_001166033;NP_060720;Q9NV88 Hs.162397 1848093;2112248;2118295;2165666;5122997 D8S1973;D8S2263;RH12254;SHGC-24116;SHGC-31253 CPSF2L;FLJ10871;INT9;RC-74;RC74 OTTHUMP00000225629;OTTHUMP00000225630;OTTHUMP00000225631;OTTHUMP00000225632;integrator complex subunit 9;protein related to CPSF subunits of 74 kDa APPROVED protein-coding ENSG00000104299 25592 07706 611352 REVIEWED 4889662 IPMKP1 inositol polyphosphate multikinase pseudogene 1 13 13 13 q12.12 4473253 4474896 - 22308934 22310381 - 23406283 23412639 - 401730 ABBA01068626;AL162853;AMYH01004965;NG_011396 KIAA0263 pseudo 39354 VALIDATED 1604344 INTS8 integrator complex subunit 8 This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 8 8 8 q22.1 92020737 92077921 + 95904710 95961897 + 95835534 95892721 + 6480464 16239144;17081983;15489334;14702039;12477932;8889549;8125298;20379614;20133760;22939629;21139048;21906983;16344560 55656 E5RG48;E5RH10;E5RIN8;E5RJF0;E5RJL5;H0YBQ1;H0YBS1;H0YC12;J3KNV5;Q75QN2 AB161944;ABBA01037467;ABBA01037468;AK000537;AK001403;AK091278;AK225533;AMYH01018895;AP003692;BC050536;BC064915;BC099915;BC136754;BC144396;BC144397;BK005731;BM474137;BX538203;CA867295;CH471060;DA644524;DA763041;NM_017864;NR_073444;NR_073445 AAH50536;AAH64915;AAI36755;BAA91238;BAA91671;BAD10863;BAG52322;CAD98067;DAA05731;EAW91726;NP_060334;Q75QN2 Hs.727669 1645266;1647646;1726725;1786598;1795486 CCNE2_76;G62750;SHGC-142554;SHGC-30660;WI-18070 C8orf52;FLJ20530;INT8;MGC131633 OTTHUMP00000227242;OTTHUMP00000227243;OTTHUMP00000227245;integrator complex subunit 8;protein kaonashi-1 APPROVED protein-coding ENSG00000164941 26048 08626 611351 REVIEWED 1350328 IP6K3 inositol hexakisphosphate kinase 3 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008] 6 6 6 p21.31 35243832 35269147 - 33797421 33822660 - 33689443 33714762 - 1580863;6480464 11502751;14702039;12477932;8125298;20558539;19851445 117283 A8K1M0;Q5TAQ4;Q96PC2 ABBA01038162;AF393812;AK056586;AK223572;AK289935;AL139044;AMYH01016249;BC089389;CH471081;NM_001142883;NM_054111 AAH89389;AAL17053;BAB71225;BAD97292;BAF82624;EAX03746;EAX03747;EAX03748;EAX03749;NP_001136355;NP_473452;Q96PC2 Hs.17253 1647496;2109429;2119732;2145175;2185855 IHPK3__6452;RH46715;SGC33754;STS-AA036643;STS-H71782 IHPK3;INSP6K3;MGC102928 ATP:1D-myo-inositol-hexakisphosphate phosphotransferase;InsP6 kinase 3;OTTHUMP00000016212;inositol hexakisphosphate kinase 3;inositol hexaphosphate kinase 3 APPROVED protein-coding ENSG00000161896 17269 07381 606993 REVIEWED 1343323 IP6K1 inositol hexakisphosphate kinase 1 This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] 3 3 3 p21.31 49726419 49789549 - 49736732 49798977 - 49761728 49823973 - 1580863;6480464 10574768;16189514;15489334;15221640;12477932;11502751;10827188;10567691;9776982;9039502;11516400;19208622;20307617;16751776;16712791;16344560;18029348;21139048;21078624;23128233 9807 C9JNA8;Q92551 ABBA01024574;ABBA01024575;ABBA01024576;ABBA01024577;AC099668;AC139451;AC141000;AK289772;AK295689;AL561521;AMYH01013162;BC012944;BE387671;BG720032;BI193048;CB152138;CH471055;D87452;DB099697;NM_001006115;NM_001242829;NM_153273 AAH12944;BAA13393;BAF82461;BAG58541;EAW65016;EAW65017;EAW65018;EAW65019;EAW65020;NP_001006115;NP_001229758;NP_695005;Q92551 Hs.386168 1668261;1670270;1686604;1735236;1735296;1767084;2108793;2128368;2182057 D20S781;D3S2901E;D3S2937E;IHPK1_8995;RH45600;RH47478;RH78246;RH81036;WI-18664 IHPK1;MGC9925;PiUS ATP:1D-myo-inositol-hexakisphosphate phosphotransferase;OTTHUMP00000212676;OTTHUMP00000212677;OTTHUMP00000212678;Pi uptake stimulator;inositol hexakisphosphate kinase 1;inositol hexaphosphate kinase 1;insP6 kinase 1 APPROVED protein-coding ENSG00000176095 18360 07379 606991 REVIEWED 1603404 IPCEF1 interaction protein for cytohesin exchange factors 1 6 6 6 q25.2 155210000 155412269 - 154517438 154719592 - 154475618 154677900 - 6480464 9455477;11919282;11320098;14702039;12920129;12477932;11804589;17067457;20379614;20016009;19913121;20628086;19756519;22085542 26034 E5RGB6;E5RGN6;E5RJQ7;E5RK08;G3V132;Q8WWN9 AB007863;ABBA01025595;ABBA01025596;ABBA01025597;ABBA01025598;ABBA01025599;ABBA01025600;AJ310566;AK093997;AK289917;AL033376;AL132774;AL445220;AMYH01016755;AMYH01016756;BC105015;BC105043;BC143623;BC143629;BU075081;BX647254;CH471051;NM_001130699;NM_001130700;NM_015553 AAI05016;AAI05044;AAI43624;AAI43630;BAA23699;BAF82606;CAC83949;CAI46054;EAW47701;EAW47702;NP_001124171;NP_001124172;NP_056368;Q8WWN9 Hs.146100 1339825;1655419;1657499;1662140;1726349;1768179;1786088;5022578 D1S1423;D6S2185;D6S425;G62475;RH46629;SHGC-156272;WI-17899;WI-20576 KIAA0403;PIP3-E;RP3-402L9.2 OTTHUMP00000017465;OTTHUMP00000225057;OTTHUMP00000225058;OTTHUMP00000225059;interaction protein for cytohesin exchange factors 1 Interaction protein for cytohesin exchange factors 1;interactor protein for cytohesin exchange factors 1;phosphoinositide binding protein PIP3-E;phosphoinositide-binding protein PIP3-E protein-coding ENSG00000074706 21204 17851 VALIDATED 5130648 IPO7P1 importin 7 pseudogene 1 X X X p11.22 56065680 56066200 + 51681633 51682229 - 51664960 51665480 - 100129708 ABBA01059951;AL929410;AMYH01022344;NG_022600 1846745 D22S1554 pseudo 39837 INFERRED 737355 IPMK inositol polyphosphate multikinase This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010] 10 10 q21.1 59625620 59697700 - 59951278 60027694 - 1580863;6480464;6907045 15489334;14702039;12477932;12223481;12027805;22715467;22718630;15101685;15659385;16247451;16293229;17981594;23050966;18029348;21906983;23128233;23251661 253430 Q8NFU5 ABBA01019436;AC016396;AC026884;AF432853;AK096839;AMYH01002765;AMYH01002766;BC016612;BC065709;BK000580;CH471083;NM_152230 AAH65709;AAM97838;BAG53373;DAA01362;EAW54161;NP_689416;Q8NFU5 Hs.30280 1723995;1731038;5017080;5038338 D10S268;ECD08264;REN77673;RH118949 OTTHUMP00000019630;inositol 1,3,4,6-tetrakisphosphate 5-kinase;inositol polyphosphate multikinase APPROVED protein-coding ENSG00000151151 20739 17153 609851 REVIEWED 731328 IP6K2 inositol hexakisphosphate kinase 2 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 p21.31 48700440 48729710 - 48725436 48754711 - 1302730;6480464 10574768 11337497;22446964;16999686;11502751;17379600;16344560;15533939;15489334;15342556;14702039;12477932;11896621;10827188;9776982;9110174;8889548;8619474;16189514;15146197;18029348;21078964;16712791;21262846;21139048;21906983;18195352;22505724;21963094;23128233 51447 B2RCP4;C9J124;C9J3W9;C9J536;C9J790;C9J8W6;C9JGK2;C9JHV2;C9JHX0;C9JK62;C9JLG7;C9JMC9;C9JRM0;C9JU99;F8WDQ5;Q9NT63 ABBA01024639;ABBA01024640;ABBA01024641;AC141002;AF177145;AK024045;AK097016;AK290526;AK291501;AK304714;AK315204;AL117458;AL137514;AMYH01013152;AY007091;BC001864;BC004469;BC019694;BC065533;BP262706;BX537544;CA488567;CB144374;CD248129;CF139656;CH471055;CN362780;DA083858;DB039955;NM_001005909;NM_001005910;NM_001005911;NM_001146178;NM_001146179;NM_001190316;NM_001190317;NM_016291;NR_027437;NR_027438 AAF15057;AAG01984;AAH04469;AAH19694;AAH65533;ABM82707;ABM85891;BAF83215;BAF84190;BAG37641;BAG51257;BAG65478;CAB55936;CAB70780;EAW64920;EAW64921;EAW64922;EAW64923;EAW64924;NP_001005909;NP_001005910;NP_001005911;NP_001139650;NP_001139651;NP_001177245;NP_001177246;NP_057375;Q9UHH9 Hs.595983 1654906;1775855;2167207;5126943 RH46444;SGC44337;SHGC-76927;STS-D29606 IHPK2;PiUS ATP:1D-myo-inositol-hexakisphosphate phosphotransferase;OTTHUMP00000164824;OTTHUMP00000210210;OTTHUMP00000210211;OTTHUMP00000210215;OTTHUMP00000210229;OTTHUMP00000210234;inositol hexakisphosphate kinase 2;inositol hexaphosphate kinase 2;insp6 kinase 2;pi uptake stimulator;pius protein APPROVED protein-coding ENSG00000068745 17313 07380 606992 REVIEWED 5130650 IPO7P2 importin 7 pseudogene 2 13 13 13 q12.12 5757385 5760175 - 23593163 23594927 - 24695163 24697953 - 100128337 ABBA01007886;AL139324;AMYH01004971;NG_011413 1691336;1744279 GDB:451541;RH40012 pseudo 39838 INFERRED 5132811 IPO8P1 importin 8 pseudogene 1 1 1 184259101 184262206 - 211032519 211035625 - 100418819 ABBA01048196;AC099755;AMYH01001698;NG_027038;NG_029777 pseudo 41955 INFERRED 731320 IPO13 importin 13 This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009] 1 1 p34.1 44185230 44206012 + 44412478 44433694 + 1580863;6480464 16189514;22648251;19218565;17828378;17652081;16809634;15964792;15489334;15143176;14702039;12600309;12477932;11447110;10745026;9872452;19593795;19619331;20379614;22939629;17314511;21804459;21139563;21890473 9670 O94829;Q5T4X2 AB018267;ABBA01050936;AF267987;AK023441;AK091565;AK290173;AL117501;AL357079;AMYH01000563;BC002608;BC008194;BX116797;CH471059;NM_014652;XM_003846624 AAF73471;AAH02608;AAH08194;ADZ15650;BAA34444;BAB14575;BAF82862;BAG52382;CAB55966;EAX07072;EAX07073;NP_055467;O94829;XP_003846672 Hs.158497 1662251;1680619;1695000;1730267;1761635;1788604;2124550;2163439;2191321;7184711;7187617 D1S280E;G44713;HSCZOA042;MARC4093-4094;MARC_17364-17365:1033586704:3;RH67811;SHGC-145624;SHGC-36789;SHGC-74711 IMP13;KAP13;KIAA0724;LGL2;RANBP13 OTTHUMP00000010010;Ran binding protein 13;importin-13;karyopherin 13;karyopherin-13;late gestation lung 2;ran-binding protein 13 APPROVED protein-coding ENSG00000117408 16853 13742 610411 REVIEWED 6480851 IPO9-AS1 IPO9 antisense RNA 1 100873949 AL645504;BI916758 Hs.604842 APPROVED miscrna 40892 1313095 IPO4 importin 4 14 14 14 q12 4513896 4522596 - 23719265 23727964 - 24649425 24658124 - 1580863;6480464 17353931;11823430;16964243;16207705;15489334;14702039;12610148;12477932;17609381;21145461;21965294;19615732;19788888;20805509;20953179;22863883;23181366;14718166;21832049;22939629;17314511;21139048;21906983;19410544;21987572;21252943;18654987;22407294;22586326;22072767;22190034;22505724 79711 B3KT38;H0YK93;H0YKG5;H0YL92;H0YLV0;H0YMR4;H0YN07;H0YN14;Q8TEX9 AB208897;ABBA01061336;AF411122;AK026991;AK027871;AK056527;AK056702;AK057044;AK057277;AK074743;AK094107;AK094897;AK095306;AK302097;AK314305;AL136295;AMYH01005610;BC003690;BC110804;BC136759;BC144399;BC144400;BF001674;BG333193;BX248267;CH471078;CR457367;NM_024658;NR_051979 AAH03690;AAI10805;AAI36760;AAL78660;BAB15616;BAB55421;BAC11174;BAD92134;BAG51791;BAG51851;BAG51895;BAG52816;BAG52950;BAG53025;BAG63479;CAD62595;CAG33648;EAW66078;EAW66079;EAW66080;EAW66081;EAW66082;EAW66083;EAW66084;EAW66085;EAW66086;EAW66087;EAW66088;NP_078934;Q8TEX9 Hs.411865 1652825;1684706;1693476;1849770;2109971;2117292;2137425;2191037 A002A41;D14S689E;MARC_13707-13708:1002916366:1;RH44766;RH47154;RH70732;SHGC-57971;TM9SF1_9135 FLJ23338;Imp4;MGC131665 OTTHUMP00000027981;imp4b;importin-4;importin-4b;ran-binding protein 4;ranBP4 protein-coding ENSG00000196497 19426 07022 VALIDATED 1322430 IPO11 importin 11 Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008] 5 5 5 q12.1 58704531 58921350 + 61744351 61960165 + 61708573 61924416 + 6480464 17353931;16344560;16189514;15489334;14702039;12975309;12477932;11809816;11032817;21965294;17643375;20379614;22863883;22939629;21383067;21139048;21890473;21906983;15545318;17110338;19725029;21963094;23000965;23216389;22797925 51194 D6RCN7;D6RCQ2;D6RJB1;E7EMB7;F8WBN4;F8WDV0;H0Y8M5;Q9UI26 ABBA01048359;ABBA01048360;ABBA01048361;ABBA01048362;ABBA01048363;ABBA01048364;ABBA01048365;AC008859;AC016637;AC114982;AF111109;AK001696;AK023177;AK124969;AK302781;AL162083;AL705962;AMYH01015117;AMYH01015118;AMYH01015119;BC031694;BC033776;BC043163;BM966917;CH471137;DA473424;FJ695194;NM_001134779;NM_016338 AAF21936;AAH31694;AAH33776;ABM85459;ABW03725;BAA91843;BAG51165;BAG63985;CAB82416;EAW51379;EAW51380;EAW51381;NP_001128251;NP_057422;Q9UI26 Hs.482269 1341176;1689328;1853228;2109861;2172574;2172576;2187292;5109637 A005N42;D19S417;D5S1601E;D5S1843;G20364;RH65770;SLRN__6857;STS-R09551 RanBP11 OTTHUMP00000205605;OTTHUMP00000205606;OTTHUMP00000205607;Ran binding protein 11;imp11;importin-11;ran-binding protein 11 APPROVED protein-coding ENSG00000086200 20628 10003;18066 610889 VALIDATED 6481012 IPPKP1 inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1 13 21677142 21678510 - 100874419 ABBA01068598;AL161613;AMYH01004955;NG_032283 pseudo 39390 INFERRED 1342539 IPW imprinted in Prader-Willi syndrome (non-protein coding) This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010] 15 15 15 q11-q12 3523661 3529588 + 22912785 22916292 + 25361692 25367623 + 15146197;9601023;7849716;20301505 3653 ABBA01048690;AC124303;AMYH01006484;CN332356;NG_002690;NG_021193;NR_023915;U12897 Hs.555970;Hs.731866 1651412;1671956;1694906;1722397;1733648;1744157;1771047;1787840;2114727;2142972 A003A06;D15S618E;D15S903;G44340;G60271;GDB:424492;SHGC-132610;SHGC-36523;STS-H93310;STS-N21972 NCRNA00002 APPROVED miscrna 6109 601491 REVIEWED 1343350 IPO8 importin 8 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 p11.21 35924748 35991765 - 30673189 30740018 - 30781915 30848929 - 1580863;6480464 9214382;19167051;19014639;18519565;16344560;21145461;12477932;11682607;10737800;16713569;17903295;20562864;20360068;21139048;21890473;21906983;20462248 10526 F5GXT5;F5H009;F5H244;F5H292;F5H2I3;F5H815;H0YH64;O15397 AA620453;AB209602;ABBA01068089;AC012673;AC023426;AK000201;AK025607;AK130090;AK302260;AMYH01004361;AU132276;BF947771;BG574795;BQ435282;BX953637;CH471094;DB067822;DB072643;DB088518;DC400226;EB387074;NM_001190995;NM_006390;U77494 AAB67052;AAI67853;BAD92839;BAH13659;EAW96607;NP_001177924;NP_006381;O15397 Hs.505136 1648694;1667579;1671823;1680964;1725935;1731835;1736298 A006S05;Cda19e03;D12F92S2;D12S1242E;G62332;RH69811;SGC31987 FLJ21954;FLJ26580;RANBP8 OTTHUMP00000240305;OTTHUMP00000240306;RAN binding protein 8;imp8;importin-8;ran-binding protein 8 APPROVED protein-coding ENSG00000133704 9853 09282 605600 REVIEWED 2303439 IQCA1P1 IQ motif containing with AAA domain 1 pseudogene 1 7 7 7 q36.1 145445301 145459925 - 150518893 150533515 - 150887960 150902582 - 12853948;12690205 392843 A6NCM1 AACC02000108;AC010973;AC021097;AMYH01018144;DY654655;HM370405;XR_171696 A6NCM1;ADM86751;EAL24505;EAL24506 Hs.649589 1762291 SHGC-146141 IQCA1L;TCAG_9762 APPROVED pseudo 22831 MODEL 1343299 IQCB2P IQ motif containing B2 pseudogene 6 6 6 p22.1 29584371 29586722 + 28086254 28088558 + 27978329 27980680 + 340192 ABBA01038012;AL121944;AMYH01016189;NG_005320 1653768;2127669;2128690 D6S2310;D6S2311;RH25274 IQCB1P1;dJ313I6.1 pseudo 17727 INFERRED 1603712 IPO5 importin 5 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008] 13 13 q32.2 97403930 97474551 + 98605929 98676550 + 6480464 9271386;9114010;15282309;18562802;18455505;18295457;17458142;17081983;17005651;16704975;16644122;15964792;15507604;15489334;15364420;14702039;12861017;12620808;12614157;12477932;12414950;12368302;11991713;11751052;11389849;11278458;11035935;10888652;10860744;10822175;10772949;10525473;10366569;10228156;9891055;9817747;9687515;9621063;9582382;9562972;9463369;9436978;9430704;9405152;9366553;9275210;8889548;8125298;8105392;1631159;11682607;10799599;21145461;20562859;15034937;17143267;17148452;17643375;19581934;19615732;20542336;20828572;19394292;23181366;21562121;22863883;22939629;23022380;16196087;15758953;17043677;20360068;21139048;21825151;21890473;21987572;19471022;21252943;22586326;12783858;21044950;23266416;10944119;18445273;19275582;20015032;21326825;22053931;22505724;22509482;17110338;19738201;21963094;21988832;22190735;22623428;22963397;23000965;23402259;23667531;23752268 3843 B3KWG6;B4E0R6;C9J583;C9J5I6;C9J875;C9JMV5;C9JQT6;C9JXE0;C9JZ53;C9JZD8;E7EQT5;E7ESA1;E7ESZ1;E7ETV3;E7ETV8;E7EV12;E7EWK4;E7EX05;F8WF30;H0Y3V4;H0Y8C6;O00410;Q9BVS9 ABBA01027154;ABBA01027155;ABBA01027156;AF339834;AK125031;AK225286;AK302812;AK303494;AL137120;AL356580;AL705630;AMYH01005317;AMYH01005318;BC000947;BC001497;BC019309;BC045640;BM666295;BU618294;BX648222;CH471085;NM_002271;U72761;Y08890 AAC51317;AAH00947;AAH01497;AAH19309;AAH45640;ABM83959;ABW03556;BAG54128;BAG64012;BAG64528;CAA70103;EAX08977;EAX08978;EAX08979;EAX08980;EAX08981;NP_002262;O00410 Hs.712598 1663906;1677050;1706828;1708612;1736344;1796234;1850165;2144278;2152834;5014051;5015619;5016478;5022200;5037552 D11S3114;D13S853E;D8S2278;D8S2279;GDB:434012;KPNB3_1159;L18426;RH15609;RH44720;SGC33733;SHGC-80892;SHGC-85098;STS-D29365;STS-N89596 DKFZp686O1576;FLJ43041;IMB3;KPNB3;MGC2068;Pse1;RANBP5;imp5 OTTHUMP00000018583;OTTHUMP00000018584;OTTHUMP00000214877;OTTHUMP00000214878;RAN binding protein 5;Ran_GTP binding protein 5;imp5;importin beta-3 subunit;importin subunit beta-3;importin-5;karyopherin (importin) beta 3;karyopherin beta-3;ran-binding protein 5 APPROVED protein-coding ENSG00000065150 6402 03597 602008 REVIEWED 1321989 IPO7 importin 7 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008] 11 11 p15.4 9362780 9423651 + 9406169 9469674 + 1580863;6480464 9214382;19193229;18519565;18003734;17848547;16704975;16344560;15964792;15592455;15489334;15282309;12853482;12665801;12477932;12080050;11682607;10228156;10209022;9687515;8889548;17020411;21319273;19435463;19609347;19615732;19788888;20085707;18029348;22863883;23181366;22939629;16196087;21419860;17314511;19471022;21139048;21890473;21906983;21963094;22284678;21252943;11024021;20473970;18781797;21825151;21987572;22586326;17110338;19805454;23000965;23067392;23349634;10944119;17360709;20719241;22053931;22174317;22509482 10527 B3KNG9;E9PLB2;E9PLJ0;O95373 ABBA01061179;ABBA01061180;ABBA01061181;ABBA01061182;ABBA01061183;ABBA01061184;ABBA01061185;ABBA01061186;AC055845;AC132192;AF098799;AJ295844;AK027487;AK027892;AK074908;AK312885;AL117596;AL137335;AMYH01003380;AMYH01003381;AMYH01003382;BC114929;BM980653;BX342418;CH471064;DA780921;NM_006391 AAC68903;AAI14930;BAG35733;BAG51331;BAG51391;BAG52028;CAB70698;CAC17609;EAW68591;EAW68592;EAW68593;NP_006382;O95373 Hs.744911 1647852;1678721;1691336;1707788;1744279;2171131;2176848;2191359;5015397 G27408;GDB:451541;IB3562;MARC_17859-17860:1025012152:3;RH40012;RH69452;SHGC-31060;SHGC-36072;SHGC-82116 FLJ14581;Imp7;MGC138673;RANBP7 OTTHUMP00000230867;RAN-binding protein 7;importin-7 APPROVED protein-coding ENSG00000205339 9852 09280 605586 REVIEWED 1349054 IQCA1 IQ motif containing with AAA domain 1 The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 2 2 2 q37.3 230945804 231128787 - 236897533 237080831 - 237232790 237416178 - 737633;6480464 12477932 15815621;15489334;14702039;8125298;20339536;18466635;21139048 79781 B4DIF4;E7ERI2;H7BZR5;Q86XH1 ABBA01042572;ABBA01042573;ABBA01042574;AC019068;AC079611;AC093915;AK026180;AK054711;AK090907;AK225433;AK294105;AK295566;AMYH01011596;AW450570;BC008085;BC018494;BC028699;BC043504;BX117697;CD688750;CH471063;HY127810;NM_001270584;NM_001270585;NM_024726;NR_073043 AAH28699;AAH43504;AAX93085;AAX93149;AAY24064;BAB15384;BAB70798;BAG57440;BAG58466;EAW71087;EAW71088;EAW71089;EAW71090;EAW71091;NP_001257513;NP_001257514;NP_079002;Q86XH1 Hs.591594;Hs.621320;Hs.711488 1338037;1760433;1775476 D2S338;G16443;SHGC-142666 4930465P12Rik;FLJ22527;FLJ33588;IQCA IQ and AAA domain-containing protein 1;OTTHUMP00000203007;OTTHUMP00000203008 APPROVED protein-coding ENSG00000132321 26195 13743 REVIEWED 1314841 IPP intracisternal A particle-promoted polypeptide The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p34-p32 44443977 44504167 - 45936977 45984720 - 46159996 46216485 - 1580863;6480464 10072760;16344560;14702039;12477932;11536049;8432546;1906605;1905535;21145461;15522220;22990118;21890473;21906983 3652 Q9Y573 ABBA01050855;ABBA01050856;ABBA01050857;ABBA01050858;ABBA01050859;AF156857;AK023880;AL604028;AMYH01000576;AMYH01000577;AMYH01000578;AMYH01000579;BC032544;BX664740;CH471059;CR589949;DA905423;NM_001145349;NM_005897 AAD39007;AAH32544;BAG51233;EAX06950;EAX06951;EAX06952;NP_001138821;NP_005888;Q9Y573 Hs.744252 1678501;1686893;1764111;2107229 IPP__7436;RH45806;RH65107;SHGC-147761 KLHL27 OTTHUMP00000009696;OTTHUMP00000038611;actin-binding protein IPP;kelch-like family member 27;kelch-like protein 27 APPROVED protein-coding ENSG00000197429 6108 00940 147485 REVIEWED 1321497 IPO9 importin 9 1 1 1 q32.1 174922106 174977247 + 200064911 200120045 + 201798288 201853422 + 1580863;6480464 21832049;11823430;16344560;15489334;14702039;12670497;12477932;11493596;11042152;10574461;9110174;8619474;15282309;17148452;17643375;19615732;22939629;22863883;22990118;17314511;21139048;21890473;21906983;22190034 55705 Q5SVH5;Q9ULM8 AB033018;ABBA01027523;AF070633;AF161391;AF410465;AK001264;AK027532;AK055940;AK074740;AK094276;AK124260;AL513217;AL645504;AL833476;AL834323;AMYH01001644;BC003604;CH471067;DA861528;DB232332;NM_018085 AAF28951;AAH03604;AAI56332;AAL01416;BAA86506;BAA91588;BAB55181;BAC11173;CAD38991;EAW91375;EAW91376;EAW91377;NP_060555;Q96P70 Hs.596014 1660976;1664495;1665462;1689221;1853406;2133038;2145585;2175231;2186597;5015619;5022450;5022578;5024761;5037552 A007H20;D10S275;D11S3114;D1S1423;D8S2279;RH36905;RH45243;SHGC-76126;SHGC-76137;SHGC-76138;SHGC-76151;SHGC-76154;SHGC-76155;WI-14888 DKFZp761M1547;FLJ10402;Imp9 OTTHUMP00000033949;importin-9;ran-binding protein 9;ranBP9 protein-coding ENSG00000198700 19425 17154 VALIDATED 1346446 IQCD IQ motif containing D 12 12 12 q24.13 113260070 113285703 - 112117629 112143263 - 113633246 113658880 - 737633;1580863;6480464 12477932 16541075;15489334;14702039;17207965 115811 F8VZV9;Q96DY2 ABBA01019949;AC089999;AK127152;AMYH01004759;BC013151;CH471054;NM_138451 AAH13151;ADQ31666;BAC86856;EAW98043;EAW98044;EAW98045;NP_612460;Q96DY2 Hs.568276 1850136;5022578 D1S1423;G12121 4933433C09Rik IQ domain-containing protein D;OTTHUMP00000241824 protein-coding ENSG00000166578 25168 13744 PROVISIONAL 1322638 IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010] 9 9 9 q22.31 65817524 65874595 - 94415287 94472368 - 95375466 95432547 - 6480464;6907045 12084730;15967797;15489334;15164053;14702039;12477932;15979280;22939629;21906983;20881960 64768 Q9H8X2 ABBA01018591;ABBA01018592;AF351200;AF351201;AF351202;AF520811;AK023225;AK024267;AK096392;AK123694;AL137074;AL157827;AMYH01021510;BC026154;CH471089;NG_027879;NM_022755 AAH26154;AAK69692;AAM75353;BAB14476;BAB14866;BAG53939;EAW62826;NP_073592;Q9H8X2 Hs.459896;Hs.713775 1655081;1667392;1771340;1773086;1850601;1854718 RH16579;RH65517;SHGC-33544;STS-AA011570;WI-11467;WI-14229 C9orf12;FLJ13163;INSP5K2;IP5K;IPK1;KIAA0699;bA476B13.1 1,3,4,5,6-pentakisphosphate 2-kinase;IPK1 homolog;OTTHUMP00000021662;bA476B13.1 (novel protein);chromosome 9 open reading frame 12;inositol-1,3,4,5,6-pentakisphosphate 2-kinase;inositol-pentakisphosphate 2-kinase;ins(1,3,4,5,6)P5 2-kinase;insP5 2-kinase APPROVED protein-coding ENSG00000127080 14645 10799 REVIEWED 2303477 IQCF5 IQ motif containing F5 3 3 3 p21.2 51886603 51888467 - 51882775 51884640 - 51907737 51909600 - 6480464 16641997 389124 A8MTL0 ABBA01024519;AC097636;AMYH01013180;AW138546;BX106781;HC044653;NM_001145059 A8MTL0;CBH30656;NP_001138531 Hs.666604 1337098 D3S3026 IQ domain-containing protein F5;OTTHUMP00000211011 protein-coding ENSG00000214681 35159 VALIDATED 2302686 IQCF6 IQ motif containing F6 3 3 3 p21.2 51791455 51791887 - 51787620 51788243 - 51812577 51813203 - 440956 A8MYZ5 ABBA01024520;AC099050;AMYH01013180;BX093815;CH471055;NM_001143833 A8MYZ5;EAW65151;NP_001137305 Hs.444316 IQ domain-containing protein F6 protein-coding 35158 VALIDATED 1348129 IQCF1 IQ motif containing F1 3 3 3 p21.2 51907728 51916218 - 51903932 51912391 - 51928892 51937386 - 737633;6480464 12477932 15489334;17207965 132141 F8WEK8;Q8N6M8 ABBA01024519;AC097636;AK131018;AMYH01013180;BC029595;BC034228;CH471055;NM_152397 AAH29595;AAH34228;ADQ32688;EAW65158;NP_689610;Q8N6M8 Hs.671210 FLJ27508;MGC39725 IQ domain-containing protein F1;OTTHUMP00000210995 protein-coding ENSG00000173389 28607 17155 VALIDATED 1320759 IQCB1 IQ motif containing B1 This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 3 3 q13.33 122971531 123036616 - 121488610 121553926 - 1580863;6480464;7240710 15723066;16322217;15723349;15661758;15489334;12477932;12244321;8889548;7584028;7584026;18723859;19118152;21068128;21220633;20881296;21245082;23382074;23383273;21901789;21565611;19322201;21857984;21903422;21139048;21890473;21906983;22183348;23752268 9657 C9J6Z7;C9JVC4;C9JXD7;Q15051 AB062481;ABBA01016476;ABBA01016477;AC119736;AL042102;AMYH01013425;AY714228;AY964667;AY964668;BC005806;BG721354;BM682018;BQ068103;BX393165;CH471052;D25278;NG_015887;NM_001023570;NM_001023571 AAH05806;AAW47233;AAY46029;AAY46030;BAA04968;BAB93506;EAW79499;EAW79500;EAW79501;NP_001018864;NP_001018865;Q15051 Hs.604110 1653768;1774541;2109439;2128690;2147741;5109306 D3S2334;D6S2310;IQCB1_8973;RH25274;SHGC-77249;WI-9285 NPHP5;PIQ;SLSN5 IQ calmodulin-binding motif containing 1;IQ calmodulin-binding motif-containing protein 1;OTTHUMP00000158861;OTTHUMP00000214823;nephrocystin 5;p53 and DNA damage-regulated IQ motif protein APPROVED protein-coding ENSG00000173226 28949 11049 609237;609254 REVIEWED 1343946 IQCC IQ motif containing C 1 1 1 p36.11-p34.2 30941138 30944190 + 32443859 32446875 + 32671236 32674288 + 6480464 16710414;16344560;15489334;14702039;12477932;8125298 55721 Q4KMZ1 ABBA01023437;AK001409;AK223272;AK299235;AK307853;AL049795;AMYH01000465;BC029986;BC098250;BC098260;BC098317;BC098366;CH471059;DA746781;DB324323;NM_001160042;NM_018134 AAH98250;AAH98260;AAH98317;AAH98366;BAA91674;BAD96992;BAG61267;EAX07562;NP_001153514;NP_060604;Q4KMZ1 Hs.274356 FLJ10547;MGC120341;RP4-622L5.6 IQ domain-containing protein C;OTTHUMP00000006377 protein-coding ENSG00000160051 25545 07683 VALIDATED 1345008 IQCG IQ motif containing G 3 3 3 q29 196231726 196303039 - 199100345 199171271 - 197615946 197686886 - 737633;6480464 12477932 16344560;15489334;14702039;11230166;16169070;21900206 84223 C9J6M9;C9JKX8;C9JUC1;Q9H095;Q9H5C8 ABBA01007559;ABBA01007560;ABBA01007561;AC135893;AI564330;AK021729;AK027224;AK095094;AL136889;AMYH01013809;AMYH01013810;BC004816;BC016156;BC068973;BC136253;CD692782;CH471252;CR533515;DA358032;DA566107;NG_033072;NM_001134435;NM_032263 AAH04816;AAI36254;ACE86580;ACE87265;BAB13881;BAB15699;CAB66823;CAG38546;EAW92246;EAW92247;NP_001127907;NP_115639;Q9H095 Hs.591675 1654311;1679978;1681135;2116513;5094793 MFD427-AAA;RH93014;RH99143;SHGC-52923;STS-W74751 DKFZp434B227;FLJ11667;FLJ23571;FLJ37775 IQ domain-containing protein G;OTTHUMP00000207849;OTTHUMP00000207850 protein-coding ENSG00000114473 25251 13746 612477 VALIDATED 1353537 IQCF3 IQ motif containing F3 3 3 3 p21.2 51841449 51843756 + 51837609 51839916 + 51860899 51864874 + 6480464 14702039;12477932 401067 B2RUV0;F2Z334;P0C7M6 AA991812;ABBA01024520;AC097636;AMYH01013180;BC021188;BC146874;BC146889;BC171811;BC171818;CH471055;HC007052;NM_001085479;NM_001207023 AAI46875;AAI46890;AAI71811;AAI71818;CBH19331;EAW65154;NP_001078948;NP_001193952;P0C7M6 Hs.729443 1685490 RH98393 IQ domain-containing protein F3;OTTHUMP00000210997;OTTHUMP00000210998;OTTHUMP00000210999;OTTHUMP00000211000 protein-coding ENSG00000229972 31816 VALIDATED 6480905 IQCJ-SCHIP1-AS1 IQCJ-SCHIP1 readthrough antisense RNA 1 100874433 AC021654 uaz98 APPROVED miscrna 41303 5013858 IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010] 3 158787041 159615155 + 14702039;17045569;18550753;20967262;19197348 100505385 B3KU38;C9J366;C9J615;C9J630;C9JMW4;C9JVF1;C9JXR1;C9K0A8;H7C4Z1;Q9P0W4 ABBA01058802;ABBA01058803;ABBA01058804;ABBA01058805;ABBA01058806;ABBA01058807;ABBA01058808;AC021654;AC063955;AC068770;AC092861;AC092943;AC092997;AC107312;AC131150;AK096479;AMYH01013609;AMYH01013610;AMYH01013611;AMYH01013612;AMYH01013613;DQ157847;DQ157848;NM_001197113;NM_001197114 ABA42889;ABA42890;BAG53300;NP_001184042;NP_001184043 Hs.134665 1646649;1646651;1689175;2190533;5017789 A005Y17;EST19B11;G20592;RH80343;SCHIP1 FLJ39160 IQ motif containing J-schwannomin interacting protein 1 fusion protein;IQ motif containing J-schwannomin interacting protein 1 read-through transcript;OTTHUMP00000221995;OTTHUMP00000221996 APPROVED protein-coding ENSG00000250588 38842 REVIEWED 1350039 IQCF2 IQ motif containing F2 3 3 3 p21.2 51874527 51876324 + 51870685 51872480 + 51895645 51897440 + 15489334;14702039;12477932;17207965 389123 Q8IXL9 ABBA01024519;AC097636;AK128883;AMYH01013180;BC040047;CH471055;HC007050;NM_203424 AAH40047;ADQ33076;CBH19330;EAW65156;NP_982248;Q8IXL9 Hs.412294 1681897 RH92162 MGC50809 IQ domain-containing protein F2;OTTHUMP00000211012 protein-coding ENSG00000184345 31815 13745 VALIDATED 1350439 IQCE IQ motif containing E 7 7 7 p22.3 2567993 2623218 + 2565158 2620894 + 2598632 2654368 + 6480464 16381901;16344560;15489336;14702039;12477932;11076863;10470851;8889548;20877624 23288 C9J5R6;C9JE72;C9JP75;C9JX25;H7C427;Q6IPM2 AACC02000053;AB028946;ABBA01039382;ABBA01039383;AC073462;AC092488;AK092404;AK293372;AK302053;AK309646;AL136792;AL137525;AMYH01016976;BC043150;BC052992;BC061518;BC071858;BM681165;CH236953;CH471144;DA246430;NM_001100390;NM_152558 AAH43150;AAH61518;AAH71858;BAA82975;BAG52546;BAG56885;BAG63443;CAB66726;CAL37749;CAL38113;EAW87261;EAW87262;EAW87263;EAW87264;NP_001093860;NP_689771;Q6IPM2 Hs.520627 1760321;1788278;2131729;2131731;2147616;5037552 A005T40;D7S3124;D8S2279;G20490;RH12206;SHGC-141251 1700028P05Rik;KIAA1023;MGC41907 IQ domain-containing protein E;OTTHUMP00000201093;OTTHUMP00000201095;OTTHUMP00000201097;OTTHUMP00000201100 protein-coding ENSG00000106012 29171 11050 VALIDATED 1604310 IQCH IQ motif containing H 15 15 15 q23 44434636 44681681 + 65321848 65581193 + 67547138 67794142 + 6480464 18491143;15897968;15489334;14702039;12477932;20379614;21102462;21832049 64799 B4E2J4;D6RGG0;F8WAL8;H0YMU5;H3BMH8;H3BRL4;H3BU17;Q9UF88 ABBA01038799;ABBA01038800;ABBA01038801;ABBA01038802;ABBA01038803;ABBA01038804;AC012568;AC016355;AC106000;AC110292;AK022538;AK292478;AK304303;AL133556;AMYH01006732;AMYH01006733;AY014282;BC031041;BC039292;BC039463;BC048964;CH471082;NM_001031715;NM_022784 AAH31041;AAH39292;AAH48964;AAK27307;BAB14087;BAF85167;BAG65156;CAB63711;EAW77794;EAW77795;EAW77796;EAW77797;NP_001026885;NP_073621;Q86VS3 Hs.657894 1661474;1675351;1682826;1700424;1733666;1783252;2138013;2161212;2164096 AFM094yc1;D15S1205;D15S633E;G29268;RH103833;RH68445;RH79640;RH98716;SHGC-155024 DKFZp434F2114;FLJ12476;NYDSP5 IQ domain-containing protein H;OTTHUMP00000164307;OTTHUMP00000223606;testis development protein NYD-SP5 protein-coding ENSG00000103599 25721 07773 612523 VALIDATED 1350713 IQGAP2 IQ motif containing GTPase activating protein 2 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008] 5 5 q13.3 75734905 76039713 + 75699149 76003957 + 1580863;6480464 8756646;17957782;16344560;15621655;15458922;14743216;12665801;12515716;12376551;8702968;17353931;11554782;22406297;20628086;19913121;20562859;17254974;20068591;20379614;20800603;20977743;17314511;18457437;21139048;21906983;21525035;21890473;23400010;22505724 10788 D6R939;D6R999;D6RDK8;D6RGC6;E7EWC2;E9PDT6;F5H7S7;H0YA28;J3KR91;Q13576;Q59HA3 AB208856;ABBA01061957;ABBA01061958;ABBA01061959;ABBA01061960;ABBA01061961;ABBA01061962;ABBA01061963;ABBA01061964;ABBA01061965;AC025188;AC026706;AC026725;AC093251;AC112173;AK291066;AK302510;AK302599;AK302981;AK303054;AK307555;AK307626;AK311619;AMYH01015417;AMYH01015418;AMYH01015419;AY351902;BI481276;CH471084;DB075371;NM_006633;U51903 AAB37765;AAQ81291;BAD92093;BAF83755;BAH13732;BAH13758;BAH13867;BAH13890;EAW95775;EAW95776;EAW95777;NP_006624;Q13576 Hs.291030 1645571;1655163;1663393;1667042;1673052;1679077;1688012;1710740;1713819;1715855;1728311;1735558;1751131;1756623;1757075;1757165;1764909;1795806;2176770;2186134;2191341;2219832 D5S1678E;D5S2432;F2RL2_622;G63437;IQGAP2__6472;MARC_17727-17728:1031758304:1;RH119622;RH120796;RH45775;RH45967;RH46468;RH66695;RH70668;SHGC-104986;SHGC-143662;SHGC-144459;SHGC-144593;SHGC-148469;SHGC-57970;SHGC-83998;STS-N26732;WI-11362 OTTHUMP00000222008;OTTHUMP00000222010;OTTHUMP00000222012;OTTHUMP00000222013;ras GTPase-activating-like protein IQGAP2 APPROVED protein-coding ENSG00000145703 6111 09253 605401 VALIDATED 6766648 IQCH-AS1 IQCH antisense RNA 1 15 q23 67695949 67814182 - 21102462;12477932;14702039 100506686 ABBA01038799;AC016355;AC106000;AI743092;AK124301;AL598736;AMYH01006733;AW204237;BC047537;BX093700;BX332831;CK822922;NR_040051;NR_040052;NR_040054;NR_040055;NR_040056 Hs.656245 1661474;1675351;1682826;1705788;1764449;2138013;2161212;5014063 AFM094yc1;D15S1390;G29268;RH68445;RH79640;RH98716;SHGC-148049;SHGC-78975 APPROVED miscrna ENSG00000259673 44104 VALIDATED 1605141 IQCJ IQ motif containing J 3 3 3 q25.32 157209821 157405246 + 160269811 160466186 + 158787041 158984096 + 6480464 17045569;14702039;12477932;16344560;18550753;22118674 654502 Q1A5X6 ABBA01058806;ABBA01058807;ABBA01058808;AC092997;AC107312;AK309049;AMYH01013609;AMYH01013610;BC137464;BC137469;BC144658;CH471052;DA305468;DQ309553;DQ309554;NM_001042705;NM_001042706;NM_001197100 AAI37465;AAI37470;AAI44659;ABC26018;ABC26019;EAW78670;NP_001036170;NP_001036171;NP_001184029;Q1A5X6 Hs.570685 1785340;1785498 SHGC-112023;SHGC-153602 IQ domain-containing protein J;OTTHUMP00000213587;OTTHUMP00000213588;OTTHUMP00000213589;OTTHUMP00000213608;calmodulin binding protein protein-coding ENSG00000214216 32406 611622 VALIDATED 1605300 IQCK IQ motif containing K 16 16 16 p12.3 18876739 19017806 + 19635279 19776362 + 19727778 19868861 + 6480464 15489334;15302935;14702039;12477932;11790298;10493829;19913121;20628086;20935630;21577200 124152 B4DXE1;B4E1V3;H3BPX0;H3BRX5;H3BU74;H3BV97;I3L193;Q8N0W5 ABBA01028265;ABBA01028266;ABBA01028267;ABBA01028268;ABBA01028269;AC002550;AC027130;AC134300;AF520569;AF520570;AK000122;AK093894;AK301933;AK303998;AK311216;AK315672;AMYH01007324;BC010515;BC034823;CH471186;NM_153208 AAC05807;AAH10515;AAH34823;AAM77339;AAM77340;ACT64471;ACT64472;BAG38037;BAG52781;BAG63353;BAG64915;EAW50295;EAW50296;EAW50297;EAW50298;EAW50299;EAW50300;EAW50301;NP_694940;Q8N0W5 Hs.460217 1342312;1647947;1674838;1708448;1735800;2178408;2182147;7184680;7185032 D16S433E;D16S749;D8S1410E;RH68919;RH69330;SHGC-85008;WI-13683 FLJ20115;FLJ36575;MGC35048 IQ domain-containing protein K;OTTHUMP00000162155 protein-coding ENSG00000174628 28556 11340 PROVISIONAL 1314286 IQGAP3 IQ motif containing GTPase activating protein 3 1 1 1 q21.3 129568222 129613182 - 154761821 154809020 - 156495197 156542396 - 1580863;6480464 17244649;14702039;12477932;20800603;17314511;20360068;21139048;21890473;19322201;22505724 128239 F2Z2E2;Q86VI3 AB105103;ABBA01016654;ABBA01016655;AK122653;AL365181;AMYH01001437;AY253300;BC033549;BC131536;BG722726;BM910515;CH471121;NM_178229 AAI31537;AAP06954;BAC78211;BAC85501;EAW52945;EAW52946;EAW52947;NP_839943;Q86VI3 Hs.591495 1762771;1762899;1764121;1773523 D1S2557;SHGC-146556;SHGC-146655;SHGC-147771 MGC10170;MGC10831;MGC1947 OTTHUMP00000031854;OTTHUMP00000031855;ras GTPase-activating-like protein IQGAP3 protein-coding ENSG00000183856 20669 11051 VALIDATED 1605175 IQSEC3 IQ motif and Sec7 domain 3 12 12 12 p13.33 1815754 1896258 + 56803 150755 + 176049 287626 + 6480464;6907045 17981261;14702039;12477932;10470851;22566498;18029348 440073 Q9UPP2 AB029033;ABBA01048857;AC007406;AC026369;AK091953;AMYH01004162;AMYH01004163;AMYH01004164;AMYH01004165;AMYH01004166;BC024764;BC042067;CH471116;NM_001170738;NM_015232 AAH24764;BAA83062;EAW88980;EAW88981;EAW88982;EAW88983;EAW88984;NP_001164209;NP_056047;Q9UPP2 Hs.536319 1654284;1654286;1731912;1757875;1767633;1782638;1782640;1782642;2157995 D12S158;RH65403;SHGC-146749;SHGC-147316;SHGC-147461;SHGC-147908;SHGC-36815;STS-Z40079;WI-21453 KIAA1110;MGC30156 IQ motif and SEC7 domain-containing protein 3;OTTHUMP00000237526;OTTHUMP00000237527 protein-coding ENSG00000120645 29193 612118 VALIDATED 1323573 IQGAP1 IQ motif containing GTPase activating protein 1 This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008] 15 15 q26.1 88732477 88846479 + 90931473 91045475 + 1580863;6480464;6484113 16190873;16179592;16135787;16105843;15695813;15634346;15592455;15572129;15572120;15521075;15389538;15355962;15302935;15263019;15252131;15217908;15121898;15081409;14970219;14702039;14699063;12938160;12900413;12745076;12603848;12477932;12446675;12377780;12110184;11948177;11809768;11790459;11734550;11289714;10793131;10608854;9712880;9199170;9182573;8798539;8756646;16245300;8670801;16380380;8051149;18029348;19454477;19366706;19321438;19155310;19134119;19036171;18809683;18587628;18575779;18567582;18541705;17981797;17853893;17693642;17620407;17563371;17544257;17517894;17255093;17085436;17081983;16964243;16622255;16387427;8702968;7584044;9535855;12577067;17353931;22182509;19050761;21319273;21177863;21295032;21428964;19596686;21885850;20562859;20127691;20977743;17050673;20530982;20644981;20875083;15166316;19079338;19615732;19856315;20017185;9368021;20959410;20883816;22992742;22662192;21318219;21621326;21640080;23603816;15655247;22863883;21537845;21724847;19135240;21681737;15161933;20360068;21730051;21750196;21876773;22944912;23145020;18781797;20639865;19738201;19805454;21525035;21963094;21983832;22623428;23000965;23071436;23454766;12938929;21139048;21890473;21906983;22080369;22328503;22483753;22536838;16009940;20473970;22294699;22573807;22586326;22519731;22939629;22028615;19380743;22053931;22505724 8826 H0YKA5;H0YLE8;P46940 ABBA01053054;ABBA01053055;AC018946;AC103739;AF401205;AI924000;AK055054;AK125643;AK298000;AK304337;AK307643;AL110106;AMYH01006921;BC005906;BC016714;BC020549;BC037425;BC064971;BC089385;BC110811;BC139731;BC151834;CH471101;D29640;NM_003870 AAH05906;AAH20549;AAH37425;AAH64971;AAH89385;AAI10812;AAI39732;AAI51835;AAL02166;BAA06123;BAG60306;BAG65182;EAX02102;EAX02103;NP_003861;P46940 Hs.430551 1341497;1647637;1654938;1665374;1673802;1677196;1684654;1707252;1733400;1769224;1794344;1794352;2112940;2129368;2162293;2186555;5111957;5120973 D15S1082;D15S1178;D15S1312;D15S1414E;D15S544;D15S946;D15S996;G09894;G43353;PMC311040P11;PMC311040P15;RH17825;RH25287;RH44885;RH65701;RH76514;RH78456;SHGC-79221 HUMORFA01;KIAA0051;SAR1;p195 OTTHUMP00000194748;RasGAP-like with IQ motifs;ras GTPase-activating-like protein IQGAP1 APPROVED protein-coding ENSG00000140575 6110 04541 603379 REVIEWED 1353175 IQSEC2 IQ motif and Sec7 domain 2 This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] X X p11.22 53278783 53327521 - 53262058 53350522 - 6480464;6907045;7240710 16344560;21479374;21686261;18029348;17623647;17045249;15772651;15669143;15197169;14742722;14702039;12477932;9628581;20473311;19322201 23096 Q5JU85 AB011094;ABBA01056390;ABBA01056391;ABBA01056392;ABBA01056393;ABBA01056394;ABBA01056395;ABBA01056396;ABBA01056397;ABBA01056398;ABBA01056399;ABBA01056400;ABBA01056401;ABBA01056402;ABBA01056403;AC245102;AK095232;AL139396;AL161779;AL590123;AMYH01022422;BC038213;BC044252;BC108674;BX119489;CH471154;DA433389;FJ154890;FJ154891;FJ154892;FJ154893;NG_021296;NM_001111125;NM_001243197;NM_015075 AAI56684;ACR15955;ACR15956;ACR15957;ACR15958;BAA25448;BAG53009;CAI42091;EAW93147;NP_001104595;NP_001230126;NP_055890;Q5JU85 Hs.496138 1340728;1654210;1701768;1701786;1703150;2108797;2124900 DXS1000;DXS1384;DXS6953;G02075;IQSEC2_9304;RH35765;UniSTS:98928 BRAG1;KIAA0522;MRX1 IQ motif and SEC7 domain-containing protein 2;OTTHUMP00000023346;OTTHUMP00000023347;brefeldin A resistant Arf-guanine nucleotide exchange factor 1;brefeldin A resistant Arf-guanine nucleotide exchange factor 1b;brefeldin A resistant Arf-guanine nucleotide exchange factor 1c APPROVED protein-coding ENSG00000124313 29059 10012 300522;309530 REVIEWED 1343743 IQSEC1 IQ motif and Sec7 domain 1 3 3 3 p25.2 12877006 13052894 - 12914374 12983960 - 12938542 13114617 - 6480464;6907045 18084281;16807291;16461286;15489334;15302935;12477932;11226253;9872452;9110174;8619474;22613714;20613766;20601426;16751776;22662237;21163940;21795701;18029348;21903422;21966491;21858086;22701712;22815487 9922 B4DGC5;C9JMG9;H7C107;Q6DN90 AB018306;ABBA01025186;ABBA01025187;ABBA01025188;AC018836;AC069271;AF055004;AK294525;AMYH01012988;AMYH01012989;AMYH01012990;AY653734;BC008088;BC010267;BC024645;BQ004209;CH471055;NM_001134382;NM_014869 AAH10267;AAT72063;ADZ15531;BAA34483;BAG57736;EAW64147;EAW64148;NP_001127854;NP_055684;Q6DN90 Hs.475506 1340290;1648738;1661088;1671605;1687307;1759603;1760745;1792262;2122729;2124696;2134185 D15S954;D3S3610;D3S3825;D3S4216;DXS9776;HSC08G032;PMC140079P3;RH66856;SHGC-144267;SHGC-150751;WI-20823 ARF-GEP100;ARFGEP100;BRAG2;GEP100;KIAA0763 ADP-ribosylation factors guanine nucleotide-exchange protein 100;ADP-ribosylation factors guanine nucleotide-exchange protein 2;IQ motif and SEC7 domain-containing protein 1;OTTHUMP00000207922;OTTHUMP00000207923;OTTHUMP00000207924;brefeldin A-resistant ARF-GEF2;brefeldin-resistant Arf-GEF 2 protein protein-coding ENSG00000144711 29112 11052 610166 VALIDATED 1606694 IQUB IQ motif and ubiquitin domain containing 7 7 7 q31.32 117895964 117978456 - 122879950 122961874 - 123092235 123174718 - 6480464 16344560;16189514;15489334;14702039;12477932;20602751 154865 A1A4Z1;Q8NA54 AACC02000001;ABBA01057733;ABBA01057734;AC073323;AK093153;AK127736;AMYH01017903;BC026173;BC032838;BC036121;BC057256;BC068607;BC091520;BC128181;BC128182;CH236947;CH471070;DA112303;NM_178827 AAH26173;AAH36121;AAH91520;AAI28182;AAI28183;BAC04074;EAL24336;EAW83583;EAW83584;EAW83585;NP_849149;Q8NA54 Hs.159650 1727833 G63182 FLJ35834;MGC149284;MGC149285 IQ and ubiquitin-like domain-containing protein;OTTHUMP00000211998;OTTHUMP00000211999;OTTHUMP00000212000 protein-coding ENSG00000164675 21995 08194 VALIDATED 1312787 IRAK1BP1 interleukin-1 receptor-associated kinase 1 binding protein 1 6 6 6 q14-q15 79964472 79995608 + 79633908 79665039 + 79577189 79608320 + 6480464 17079333;15485901;12477932;11096118 134728 Q5VVH5 ABBA01040397;ABBA01040398;ABBA01040399;AK098678;AK309003;AL450327;AMYH01016454;AMYH01016455;BC112253;BC112255;BX103697;CH471051;CR990080;NM_001010844 AAI12254;AAI12256;EAW48721;NP_001010844;Q5VVH5 Hs.656212 2106523 IRAK1BP1__6474 AIP70;MGC138458;MGC138460;SIMPL 4921528N06Rik;ActA binding protein 3;OTTHUMP00000016770;interleukin-1 receptor-associated kinase 1-binding protein 1 protein-coding ENSG00000146243 17368 17157 VALIDATED 1319999 IRAK2 interleukin-1 receptor-associated kinase 2 IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008] 3 3 p25.3 10181563 10260427 + 10206563 10285427 + 1580863;5490215;5685014;6480464;6907045 20086235;21235323 9374458;10383454;12493773;19240061;18996842;17878161;22011580;15670593;15489334;11744690;11544529;10191251;9918122;12721283;20332216;12477932;12659850;15761153;17675297;19423540;19453261;20056178;20200953;20379614;20406964;20438785;20485341;9625770;20800603;21048031;15276183;20937840;19913121;20628086;17342744;21606490;21220427;21903422;21987572;12138165 3656 O43187 ABBA01020382;ABBA01020383;ABBA01020384;ABBA01020385;ABBA01020386;ABBA01020387;ABBA01020388;ABBA01020389;AC022384;AF026273;AJ496794;AK299033;AK312841;AL538890;AL556221;AMYH01012969;BC125184;BG682610;CH471055;NM_001570 AAB87669;AAI25185;BAG35695;BAG61108;CAD43180;EAW64069;NP_001561;O43187 Hs.449207 1645460;1731343;1731689;1731837;1787794;2112584;7184794 D3S1317;D3S1335;D3S1435;D3S4351;SGC38201;SHGC-173185 IRAK-2;MGC150550 OTTHUMP00000207789;interleukin-1 receptor associated kinase-2;interleukin-1 receptor-associated kinase-like 2 APPROVED protein-coding ENSG00000134070 6113 04491 603304 REVIEWED 1348457 IRAK1 interleukin-1 receptor-associated kinase 1 This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q28 152929151 152938536 - 153275957 153285342 - 1580863;1582271;1579809;5490218;5490215;5685014;6480464;6484113;6907045 12860565;15793310;18535784;20086235;21235323 11828002;22447928;16024789;19505919;19453261;19329491;19288030;19282863;19264973;19181383;19166933;19166926;19025640;18987746;18566305;18474871;18411265;18347055;18276832;18079163;18070982;18050247;17997719;17920759;17905570;17878161;17785851;17675297;17548806;17382928;17276401;17053167;16907704;16690127;16537705;16528020;16477006;16381901;16286016;16203735;16107720;16094384;16052631;15829295;15767370;15691841;15647277;15523691;15489336;15489334;15465816;15084582;15069085;14752294;14684752;12925853;12874243;12860405;12856330;12724322;12721283;12619925;12566447;12496252;12477932;12391239;12370331;12242293;12055225;12034707;11976320;11960013;11953430;11937546;8599092;10383454;11397809;16831874;10854325;10465784;12138165;11701612;11518704;11287640;11096118;11076863;10899313;10723722;10395695;10395652;10191251;9918122;9625770;9374458;9371760;8837778;18326498;18180283;18724939;18234474;11259596;11777917;11744690;10920205;11544529;10747026;15894263;22451023;23776175;20092701;10022904;10346818;11244088;12054681;15276183;16884718;16997282;17113392;19104650;19716405;19754427;19838195;19948975;20044140;20056178;20448286;20463618;20500689;9252186;9575168;9915784;18221795;20562859;20400509;20890200;20870441;20937840;20542134;19913121;20619458;20628086;21160042;21220427;19081057;22896623;21708940;21804018;19026643;19264966;19675569;20043910;21898345;21903422;21911421;22033459;17314511;21640790;21537341;21435586;21890473;21906983;21987572;22059479;22033216;15388348;18524972;19185524;21204785;12609980;14625308;21933552;12538665;21145461;22011580;22759955;22904187;15917247;16951688;22851693;9426216;20676093;21963094;22904263;23000965;23041547;23244239;23381138;23233309;17197697;22678362;23018031;23396947;16461741;18056395;22505724;22797925;23383610;23455922 3654 D3YTB5;F8WAB6;H7C1F0;H7C224;H7C2I6;H7C3C1;H7C3G8;P51617 ABBA01045321;ABBA01045322;AF030876;AF346607;AMYH01023305;BC014963;BC054000;BE276817;CH471172;DQ054788;L76191;NG_008387;NM_001025242;NM_001025243;NM_001569;U52112 AAC08756;AAC41949;AAH14963;AAH54000;AAK62888;AAY88246;ACE86439;ACE87114;CAL37502;CAL38089;EAW72760;EAW72761;EAW72762;EAW72763;EAW72764;EAW72765;NP_001020413;NP_001020414;NP_001560;P51617 Hs.522819 1677366;1684776;1685111;1694400;1702682;1703022;1748039;1787376;1800406;1801492;1802118;1803506;1804556;1804602;1805320;1806326;1807816;1810542;1813086;1813380;1813460;1814552;1815146;1819994;1822174;1838582;1838624;1844220;1856498;2035000;2035002;2035004;2035006;2035008;2035010;2035012;2035014;2035016;2035018;2035020;2035022;2035024;2035026;2035028;2035030;2035032;2035034;2035036;2035038;2035040;2035042;2035044;2035046;2035048;2035050;2035052;2035054;2035056;2035058;2035060;2035062;2035064;2035066;2035068;2035070;2035072;2035074;2035076;2035078;2035080;2035082;2035084;2035086;2035088;2035090;2035092;2035094;2035096;2035098;2035106;2035108;2035110;2035112;2035114;2035116;2035118;2035120;2035122;2035126;2035128;2035130;2035132;2035134;2035136;2035138;2035140;2035142;2035144;2035146;2035148;2035150;2035152;2035154;2035156;2035158;2102224;2102226;2102228;2102230;2102232;2102234;2102236 DXS1012E;DXS7069;ECD01063;ECD01621;ECD01941;ECD02651;ECD03207;ECD03233;ECD03607;ECD04118;ECD04883;ECD06264;ECD07562;ECD07711;ECD07751;ECD08306;ECD08607;ECD11068;ECD12173;ECD20465;ECD20486;ECD23323;G42895;G65801;REN88509;REN88510;REN88511;REN88512;REN88513;REN88514;REN88515;REN88516;REN88517;REN88518;REN88519;REN88520;REN88521;REN88522;REN88523;REN88524;REN88525;REN88526;REN88527;REN88528;REN88529;REN88530;REN88531;REN88532;REN88533;REN88534;REN88535;REN88536;REN88537;REN88538;REN88539;REN88540;REN88541;REN88542;REN88543;REN88544;REN88545;REN88546;REN88547;REN88548;REN88549;REN88550;REN88551;REN88552;REN88553;REN88554;REN88555;REN88556;REN88557;REN88558;REN88562;REN88563;REN88564;REN88565;REN88566;REN88567;REN88568;REN88569;REN88570;REN88572;REN88573;REN88574;REN88575;REN88576;REN88577;REN88578;REN88579;REN88580;REN88581;REN88582;REN88583;REN88584;REN88585;REN88586;REN88587;REN88588;RH45050;RH80551;RH80656;RH80797;SHGC-171695;stSG603762;stSG603763;stSG603764;stSG603765;stSG603766;stSG603770;stSG603771 IRAK;pelle IRAK-1;OTTHUMP00000026014;OTTHUMP00000026015;OTTHUMP00000026020;OTTHUMP00000180621;Pelle homolog;interleukin-1 receptor-associated kinase 1 APPROVED protein-coding ENSG00000184216 6112 02235 300283 REVIEWED 1313252 IRAK4 interleukin-1 receptor-associated kinase 4 This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 q12 42439047 42468166 + 44152747 44183346 + 1600199;5490218;5490215;5685014;6480464;6484113;6907045;7240710 12637671;18535784;20086235;21235323 12538665;22011580;12860405;16286016;15276183;18029348;14625308;16024789;19505919;19258923;19254290;19181383;19074885;19006693;18987746;18503546;18174872;18079163;17997719;17917042;17893200;17878374;17703412;17675297;17548806;17507369;17217339;17161373;17141195;17046325;16907704;16537705;16344560;16286015;15905496;15825022;15489334;15292196;15084582;14702039;12925671;12721283;12496252;12477932;12297423;11960013;11923871;10508479;3772297;21166654;10854325;16169070;19120481;19423540;19592493;19703016;19898481;20056178;20104875;20406964;20438785;20448286;20485341;20503287;20105294;20400509;19913121;20588308;20621347;20628086;18438411;21160042;21205819;18221795;20966070;21220427;23027530;23255009;21576904;19264966;21738793;22606974;21903422;22059479;15927069;12609980;17276401;21204785;22610502;23100432;16951688;17785851;19166926;23264652;20676093;21988832;23041547;22932140;23381138;23002119 51135 B2RAP9;B4E359;F8VR40;F8VVZ1;F8VW24;Q69FE3;Q9NWZ3 ABBA01031422;ABBA01031423;AC093012;AF155118;AF445802;AI126481;AK000528;AK027301;AK299944;AK304583;AK314288;AMYH01004415;AY186092;AY283670;AY283671;AY340962;AY340963;AY340964;AY340965;AY340966;AY340967;AY730682;BC013316;CH471111;DA290809;NG_009892;NM_001114182;NM_001145256;NM_001145257;NM_001145258;NM_016123 AAD42884;AAH13316;AAM15772;AAN75440;AAP57089;AAP57090;AAR02358;AAR02359;AAR02360;AAR02361;AAR02362;AAR02363;AAX22228;ABM83811;ABM87133;BAA91232;BAG36946;BAG61774;BAG65371;EAW57867;NP_001107654;NP_001138728;NP_001138729;NP_001138730;NP_057207;Q9NWZ3 Hs.138499 1680224;2106525;5015619;5015869;5022200;5022578;5024039;5037552;5109281 D11S3114;D16S325;D1S1423;D1S1425;D8S2279;GDB:313261;IRAK4__6475;L18426;RH26210 IPD1;IRAK-4;NY-REN-64;REN64 IRAK-4;OTTHUMP00000241037;OTTHUMP00000241041;OTTHUMP00000241042;interleukin-1 receptor-associated kinase 4;renal carcinoma antigen NY-REN-64 APPROVED protein-coding ENSG00000198001 17967 06051 606883;607676;610799 REVIEWED 1318853 IRAK3 interleukin-1 receptor-associated kinase 3 This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 12 12 q14.3 64869284 64928652 + 66582978 66648402 + 1580863;6480464;6484113;6907045;7240710 18156187;12477932;10383454;17379480;12150927;15728517;19453261;19423540;19414798;19372141;19264973;19114913;19013233;18987746;18354163;17982103;17558906;17503328;16437636;16432636;16344560;15489334;15342556;14702039;14592437;12721283;12054681;19913121;20628086;19561104;20237496;20331378;20406964;20438785;20448286;21098228;21278795;22634523;21297081;22272346;21903422;22886503;22070913;21890473;21987497;22154382;21988832;22939624;23376919;12138165;19166926 11213 F5GYN6;Q9Y616 ABBA01026575;ABBA01026576;ABBA01026577;AC078889;AC078927;AF113136;AK023663;AK298645;AK314040;AL049435;AMYH01004554;BC029493;BC047399;BC057800;BC069388;BP292474;BQ009433;CH471054;DA594800;NG_021194;NM_001142523;NM_007199 AAD40879;AAH57800;AAH69388;ADZ15596;BAG36749;BAG60819;EAW97164;NP_001135995;NP_009130;Q9Y616 Hs.369265 1680825;1686166;1699106;1797752;1852639;2185221;5014051;5015619;5037552;5118017 D11S3114;D8S2278;D8S2279;G09311;GDB:636835;IRAK3_2162;RH103129;RH44812;RH80864;RH80872 ASRT5;FLJ13601;IRAK-M;IRAKM IL-1 receptor-associated kinase M;OTTHUMP00000239912;OTTHUMP00000239914;interleukin-1 receptor-associated kinase 3 APPROVED protein-coding ENSG00000090376 17020 05123 604459;611064 REVIEWED 733858 IREB2 iron-responsive element binding protein 2 15 15 q25.1 76517573 76580853 + 78730518 78793798 + 1580863;6480464;6893299;6893298 16914832;18685102 7983023;19223469;18582596;18574241;17822790;17760563;17613866;17604281;17200797;16503547;15938636;15777842;15146197;15057521;14673166;12888568;12855587;12477932;12465072;12200453;12192037;11783942;7622457;7523370;7489724;2172968;1421965;21320324;19762596;19762597;19800047;20173748;20877624;20587604;20587610;20656943;21832049;22461431;12629548;20405006;9560204;22863883;21558272;9924025;22331484;21139048;21890473;21906983;21963094;21987572;22079093;22093897;22080838;22356581;21988832;23000965;23251661;22505724 3658 D3DW85;H0YKU0;H0YL48;H0YLE0;H0YMA8;H0YN46;H0YNL8;P48200 AB209403;ABBA01060585;AC011270;AC027228;AK027033;AK027034;AK292992;AL133439;AMYH01006835;BC017880;BC117481;BC117483;BC143948;BX340905;CH471136;CN290278;DQ496102;M58511;NM_004136;U20180 AAA69901;AAA79926;AAH17880;AAI17482;AAI17484;ABF47091;ADR83414;BAD92640;BAF85681;CAB62825;EAW99169;EAW99170;EAW99171;NP_004127;P48200 Hs.436031 1645393;1672436;1689149;1694588;1696708;1777880;1778316;1784404;2115003;2140986;2186226;2219834;5022450;5022578;5093734;5094850;5095295;5095297 A009V40;D10S275;D15S908;D1S1423;G32892;G43287;IREB2;IREB2,_C.20-127A>G;IREB2,_C.583+19A>G;IREB2__6476;RH44971;RH65189;RH66624;RH77805;SHGC-172971;SHGC-36650;SHGC-83059;STS-R99019 ACO3;FLJ23381;IRP2;IRP2AD IRE-BP 2;OTTHUMP00000185022;iron regulatory protein 2;iron-regulatory protein 2;iron-responsive element-binding protein 2 protein-coding ENSG00000136381 6115 08858 147582 VALIDATED 735989 IRF1 interferon regulatory factor 1 IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008] 5 5 q31.1 131846679 131854326 - 131817301 131826465 - 1600013;1600014;1580863;5128721;5128774;5128782;632385;2298928;5128787;5128723;5128726;5128725;2317873;5128724;2317694;5128786;5128775;5128720;5128716;5128719;6480464;6484113;6907045;7240710 9679752;10395927;10497103;20980260;19075038;12437578;11723173;14605445;10225979;11069564;11854220;12503083;16961714;12787392;15141302;20045913;10930443;11880315;11083808 21790247;18688264;18678606;18676680;18655181;18454680;18401423;18381204;18338947;18316378;18216101;18200030;18084608;18079498;17985330;17970693;17947510;17924060;17918184;17869652;17852336;17703412;17617740;17516545;17498560;17328074;17255955;17213842;17177148;17121613;17016442;16944293;16914093;16894313;16857162;16679314;16636311;16512786;16483648;16223733;16195814;16085646;15907481;15878912;15863386;15778351;15710386;15576464;15560761;15548708;15511228;15509808;15489334;15489234;15331704;15265939;15241475;15226432;15173018;15078941;14993214;14764039;14675396;14599866;12788988;12759449;12732645;12711307;12677441;12545159;12482935;19463200;19433065;19428110;19295429;19258923;19247692;19145247;19131452;19056926;19028144;19012493;18986693;18694960;12477932;12433281;12420214;12420205;12191570;12162881;12115600;12105194;12067985;11970993;11948194;11909852;11846974;11846972;11804954;11721695;11716756;11559933;11483597;11315919;11304541;11240951;10764778;10438822;12479817;10357819;18035482;22401175;10022868;9865487;9865486;9742224;8746784;8438156;7768900;7507207;3409321;2726461;2475256;1680796;1382447;16703666;11675348;17942705;15893730;9649509;19880820;18641303;19129219;19170196;19345417;19404407;19426920;19450680;19502235;19536153;19548631;19574175;19625176;19642896;19692168;19805480;19845895;19851330;20031576;20031577;20459687;20485362;20503287;20435892;19697121;20457620;12021315;20177805;19858727;20177960;20525893;20861350;20211142;20980339;16195385;20947504;20817723;14662860;21102463;20533260;20588308;21834067;20846942;21200019;21300955;9659924;21389130;21257209;19593445;22874466;21245151;21586271;21683060;21803131;22879909;21411754;21288140;21725055;23226549;23378427;21903422;22213332;22096509;10094406;11846971;22345458;22367195;12799427;23040881;23729439;23746807;21988832;23071666;23128233;19482358;9593745;22139419;23046934;23134341;23255602 3659 C9J9C5;C9JD95;F8WCM1;P10914;Q6FHN8;R4GNI0 AA402319;AB103081;AB209624;ABBA01068805;AC003959;AC116366;AK298770;AK314025;AMYH01015615;BC009483;BT019755;BT019756;CH471062;CR541713;DQ789232;L05072;NG_011450;NM_002198;X14454 AAA36043;AAB93488;AAH09483;AAV38560;AAV38561;ABH05670;ABM84195;ABM87598;BAD89424;BAD92861;BAG36735;BAG60912;CAA32624;CAG46514;EAW62332;NP_002189;P10914 Hs.436061 1661384;1743197;1744955;1791414;1791698;1794902;1796124;1803388;1803556;1803814;1804820;1804934;1811920;1815528;1820336;1824304;1826664;1834968;1836086;1839246;1999052;1999054;1999056;1999058;1999060;1999062;1999064;1999066;1999068;1999070;1999072;1999074;1999076;1999078;1999080;1999082;1999084;1999086;1999088;1999090;1999092;1999094;1999096;1999098;1999100;1999102;1999104;1999106;1999108;1999110;1999112;1999114;1999116;1999118;1999120;1999122;1999124;1999126;1999128;1999130;1999132;1999134;1999136;1999138;1999140;1999142;2096094;2096096;2096098;2096100;2096102;2096104;2123289;2176563;5015619;5015861;5015961;5016478;5020881;5021872;5022578;5022651;5037552;5109281;5120217;7185938 D10S16;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D5S1548;D8S2279;ECD02591;ECD02679;ECD02816;ECD03343;ECD03403;ECD06964;ECD08800;ECD11243;ECD13250;ECD14446;ECD18635;ECD19204;ECD20803;GDB:211052;GDB:294203;GDB:434012;GDB:581873;IRF1_162;L17709;PMC109445P2;PMC120056P1;PMC84085P1;REN70438;REN70439;REN70440;REN70441;REN70442;REN70443;REN70444;REN70445;REN70446;REN70447;REN70448;REN70449;REN70450;REN70451;REN70452;REN70453;REN70454;REN70455;REN70456;REN70457;REN70458;REN70459;REN70460;REN70461;REN70462;REN70463;REN70464;REN70465;REN70466;REN70467;REN70468;REN70469;REN70470;REN70471;REN70472;REN70473;REN70474;REN70475;REN70476;REN70477;REN70478;REN70479;REN70480;REN70481;REN70482;REN70483;STS-X14454;WI-7178;sY3084;stSG601315;stSG601316;stSG601317;stSG601318;stSG601319;stSG601320 IRF-1;MAR OTTHUMP00000065831;OTTHUMP00000065832;OTTHUMP00000198266;OTTHUMP00000199798;interferon regulatory factor 1 APPROVED protein-coding ENSG00000125347 6116 00961 137215;147575;211980;613659 REVIEWED 1312641 IRF2 interferon regulatory factor 2 IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008] 4 4 q34.1-q35.1 185545870 185632720 - 185308876 185395726 - 1580863;6480464 17698501;7507207;8438157;18514056;18395009;17200120;16582966;15778351;15560761;15496418;15489334;15342556;15226432;14962090;12799427;12479817;12477932;12474233;11748221;11721886;11304541;11264730;11025449;10609788;10482277;10102295;10022868;9865487;9865486;9213219;8550813;8106512;7768900;7566098;2813069;2475256;11420046;19032150;19247692;19756143;20034464;20129639;20379614;9540062;18029348;20980339;1630448;22744333;21832049;21903422;22042864;19471022;22113474;21693764;22119988 3660 D6R9N5;D6RB08;D6RB34;D6RED1;H0Y956;K4DIA4;K4DIA5;P14316 AA361545;ABBA01070515;ABBA01070516;AC099343;AK312953;AMYH01014766;AMYH01014767;AMYH01014768;BC015803;BP200998;BQ017798;BT007264;BX648934;CH471056;CR457077;D14082;DQ409328;NM_002199;X15949 AAH15803;AAP35928;BAG35793;CAA34073;CAG33358;EAX04677;EAX04678;EAX04679;EAX04680;NP_002190;P14316 Hs.654566 1654613;1667398;1667400;1682145;1796126;1851468;1854678;2124902;2130488;2150121;2150738;2170922 D4S1161;D4S3342;G34450;IRF2_754;RH91241;SHGC-11934;SHGC-24783;SHGC-25089;SHGC-37407;SHGC-53528;SHGC-57754;SHGC-64834 DKFZp686F0244;IRF-2 OTTHUMP00000218573;OTTHUMP00000218576;OTTHUMP00000218580;interferon regulatory factor 2 APPROVED protein-coding ENSG00000168310 6117 00962 147576 REVIEWED 5132810 IRF5P1 interferon regulatory factor 5 pseudogene 1 8 8 90171672 90173817 + 93984824 93986969 + 100420406 ABBA01037432;AC027242;AMYH01018880;NG_026120 pseudo 41981 INFERRED 1318010 IRF2BP1 interferon regulatory factor 2 binding protein 1 19 19 19 q13.32 43191891 43194401 - 51078706 51081216 - 46386866 46389376 - 6480464 18671972;18511908;17121613;14702039;12799427;12477932;11067960;8125298;20211142;19471022;21139048;21693764;21890473;21903422;19531213;21252943;15231748;23667531;22505724 26145 Q8IU81 ABBA01040956;AC008623;AJ305209;AK092407;AK223622;AK315060;AL080159;AMYH01009856;AY278022;BC005834;BC038222;BC039002;BC078181;CH471126;NM_015649 AAH05834;AAH38222;AAH39002;AAH78181;AAP78943;BAD97342;BAG37535;CAB45750;CAC43219;EAW57396;NP_056464;Q8IU81 Hs.515477 1734636 D19S637E DKFZp434M154 IRF-2-binding protein 1;interferon regulatory factor 2-binding protein 1;probable E3 ubiquitin-protein ligase IRF2BP1 protein-coding ENSG00000170604 21728 17159 615331 PROVISIONAL 1322211 IRF2BPL interferon regulatory factor 2 binding protein-like This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012] 14 14 14 q24.3 57529452 57533597 - 76560639 76564787 - 77490886 77495042 - 6480464 11095982;17627301;17081983;15345747;15302935;12508121;12477932;12029088;11347906;8889548;19022886;19690564;16341674;22863883;22939629;19322201;16051665;21903422;21252943;22379998;19471022;21139048;21693764 64207 Q9H1B7 AB058768;ABBA01030663;AC007686;AF063597;AI377523;AI821684;AJ277365;AL832320;AMYH01005875;AMYH01005876;AW001869;BC042460;BC108292;BI765830;BM690017;BM744266;CB852902;NM_024496 AAG43156;BAB47494;CAC10539;CAD38615;NP_078772;Q9H1B7 Hs.179260;Hs.744332 2190559 EST27B2 C14orf4;EAP1;KIAA1865 OTTHUMP00000246540;enhanced at puberty 1;enhanced at puberty protein 1;interferon regulatory factor 2-binding protein-like APPROVED protein-coding ENSG00000119669 14282 10713 611720 REVIEWED 1603839 IRF2BP2 interferon regulatory factor 2 binding protein 2 This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 208010244 208015502 - 232806638 232811894 - 234740015 234745271 - 6480464 17121613;15302935;14702039;12799427;12477932;20702774;18029348;19190336;22863883;21576369;19531213;22688191;23185413;16051665;21887377;21903422;19471022;21139048;21890473;20686565;22247754;19322201 359948 Q7Z5L9 ABBA01033102;AK054864;AK056930;AL160408;AL161640;AMYH01001834;AY278023;AY278024;BC020516;BC041989;BC053539;BC065759;BE408503;CD640986;CH471098;NM_001077397;NM_182972 AAH20516;AAH65759;AAI60054;AAP78944;AAP78945;EAW69996;NP_001070865;NP_892017;Q7Z5L9 Hs.350268 1654102;1773979;2118526;2179287;5020246;5022655;5124850 D1S3579;IRF2BP2;RH67922;RH70773;SHGC-76582;STS-N69419;WI-20983 MGC72189 IRF-2-binding protein 2;OTTHUMP00000036087;OTTHUMP00000036088;interferon regulatory factor 2-binding protein 2 APPROVED protein-coding ENSG00000168264 21729 17160 615332 REVIEWED 1317594 IRF4 interferon regulatory factor 4 The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010] 6 6 p25-p23 336760 356193 + 391739 411443 + 1600211;1580863;6480464;6484113;7240710 9326949 18815567;19448593;19656156;19787248;19925052;19396635;19340012;19144381;19047678;18987657;18962896;18758461;18483556;18417578;18235046;18231914;17952075;17768115;17690696;17502719;17296585;17150500;17121613;16272311;16236719;16189514;15829558;15489334;15242870;14574404;12920225;12676954;12566414;12477932;12372320;12218129;11956291;11846984;11749693;11342629;10714679;8921401;12374808;18029348;10601358;10453013;10196196;10022840;8657101;21454650;21169992;20123861;19573080;19604093;19710684;19717648;19773279;19812605;19897031;19955181;20054341;20090783;20190752;20332261;20408839;20211142;20568250;20731705;20855867;22700719;19804451;20553269;20585627;20587610;20602913;20647408;20674401;21270109;21197618;21791429;21685912;21487109;21498517;23548203;22512251;23029519;21680528;22025054;21903422;21728176;21906983;22003407;23073988;22698399;21890374;21919915;22718837;22515488;22994707;23332472;23138182;23303382;12549820 3662 F2Z3D5;Q15306 ABBA01048669;AK130762;AK310149;AL365272;AL512308;AL589962;AMYH01016012;AW197089;BC015752;BG230623;BM551611;CH471087;CR977713;D78261;NG_027728;NM_001195286;NM_002460;NR_046000;U52682;U52683;U63738 AAB37258;AAC50779;AAH15752;ABM84398;ABM87301;BAA11335;EAW55056;EAW55057;EAW55058;EAW55059;EAW55060;NP_001182215;NP_002451;Q15306 Hs.401013 1701566;1785830;2123470 RH104416;SHGC-106840;STS-N33454 LSIRF;MUM1;NF-EM5 IRF-4;NF-EM5;OTTHUMP00000017905;OTTHUMP00000017906;interferon regulatory factor 4;lymphocyte-specific interferon regulatory factor;multiple myeloma oncogene 1 APPROVED protein-coding ENSG00000137265 6119 03543 254500;601900 REVIEWED 2292071 IRG1 immunoresponsive 1 homolog (mouse) 13 13 q22.3 76409986 76452604 + 77522694 77532777 + 6480464 21424586;23610393 730249 A6NK06;H7C1Q4 ABBA01021659;AC000403;AC001226;AI652725;AMYH01005222;BX105915;CH471093;DN831390;NM_001258406 A6NK06;EAW80560;NP_001245335 Hs.160789 1737445;1737453 D13S1007;D13S1011 CAD aconitate decarboxylase;cis-aconitate decarboxylase;cis-aconitic acid decarboxylase;immune-responsive gene 1 protein homolog;immunoresponsive 1 homolog (mouse) protein-coding ENSG00000102794 33904 615275 INFERRED 1320095 IRF6 interferon regulatory factor 6 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011] 1 1 q32.3-q41 208027885 208046102 - 209958968 209979520 - 1600214;1580863;6480464;7240710 12219090 14640113;19536891;19527266;19419265;19388848;19270707;19115793;19036739;18978678;18836445;18813858;18798331;18506368;18452891;18278815;18247422;18212048;18209213;17937438;17702008;17551329;17549393;17438386;17318851;17122170;17041603;16998136;16710414;16211254;16160700;16132054;16049006;15994871;15647839;15489334;15317890;15300989;15013698;14757865;14618417;12964020;12920575;12477932;10645953;10593995;5317890;3812594;11544322;16344560;21082654;19734457;19842205;19929101;19937600;20023658;20032603;20121942;20424325;20436469;20544801;19282774;19372376;19449419;19536562;19780991;20211142;20848922;21039277;20803643;20184620;20856073;20564431;20572854;20634891;20652317;20672350;20799332;21129360;23029012;21468557;23154410;23166094;23169698;21792966;21683068;21739575;21807998;21903422;21909072;21906983;23510002;22876587;21834040;21885341;22487822;20301581;22379092;22440537;22863734;22931925;22887868 3664 B1AJU4;G0Z349;O14896 ABBA01048213;AF027292;AK296960;AK312857;AL022398;AMYH01001696;BC014852;BI770148;CH471100;DA016081;HQ875393;NG_007081;NM_001206696;NM_006147 AAB84111;AAH14852;AEK31251;BAG35709;BAG59504;EAW93438;EAW93439;NP_001193625;NP_006138;O14896 Hs.591415 1683289;1689604;2167949;5014053;5491609 D1S3693;MARC_24336-24337:1030113089:1;RH67815;RH98921;SHGC-76222 LPS;OFC6;PIT;PPS;PPS1;VWS;VWS1 IRF-6;OTTHUMP00000034677;OTTHUMP00000034678;interferon regulatory factor 6 APPROVED protein-coding ENSG00000117595 6121 06227 119300;119500;607199;608864 REVIEWED 1321354 IRF5 interferon regulatory factor 5 This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different isoforms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Mar 2010] 7 7 q32 128365230 128377325 + 128577994 128590089 + 1580863;6480464;6907045;7240710 18824541;18752149;18668568;18579578;18505922;18438842;18408250;18332133;18323517;18311811;18288123;18285424;18260169;18204446;18204098;18200047;18063667;18050197;17881657;17703412;17609264;17599733;17568788;17557928;17476532;17412832;17393452;17389033;17189288;17166181;17158136;17133578;17121613;16642019;15805103;15695821;19479858;19258923;19228650;19129183;19116937;19092842;19028697;19019891;18843785;18843782;21454650;15665823;15657875;15556946;15489334;15308637;14559832;12690205;12600985;12477932;12138184;11997525;11846976;11303025;9865487;20695768;20453440;19043711;19430534;19565491;19567624;19644876;19644887;19758313;19778284;19786094;19816589;19838193;19851296;19854706;19877059;19918036;20015215;20049410;20080916;20090783;20112383;20127100;20131273;20137629;20197570;20198315;20231204;20237317;20351107;20383147;20439292;20453842;20479942;20503287;20211142;20797713;20848568;20861858;20861862;20881011;20935208;20962850;20980283;21040166;19913121;20588308;20616560;20628086;20639879;20639880;21399635;21408207;21297633;22674082;22507190;23275442;21239750;21834935;22179739;21471993;21133648;21903422;22025054;21898142;22088620;22318606;22544929;23154183;23236436;21968701;22412986;22257839;23302156;22194884;22440820;22500098;21807777;21627826;21750679;21779181;22053985;18836453;21988832;22909381;23073787;23349905;23053960;23128233;23273568;22730365;22816737;23372721 3663 C9J7M2;C9JAU6;C9JB67;C9JYP7;F8WDH6;Q1A7B4;Q64GB2 AACC02000035;ABBA01057648;AC025594;AK293654;AK297083;AL713733;AMYH01017924;AMYH01017925;AMYH01017926;AY504946;AY504947;AY693665;AY693666;AY693667;AY693668;AY693669;BC004139;BC004201;BU540632;BU950658;CA427676;CH236950;CH471070;DC427600;DQ277633;DQ277634;DQ995492;DQ995494;EF064718;EU258895;EU258896;EU258897;EU258898;JQ950681;JQ950683;JQ950685;NG_012306;NM_001098627;NM_001098629;NM_001098630;NM_001242452;NM_032643;U51127 AAA96056;AAH04139;AAH04201;AAR90325;AAR90326;AAU12877;AAU12878;AAU12879;AAU12880;AAU12881;ABB88960;ABB88961;ABK41901;ABM84563;ABW03485;ABX54712;ABX54713;ABX54714;ABX54715;AFN70752;AFN70754;AFN70756;BAG59600;BAH11558;EAL24107;EAL24108;EAW83703;EAW83704;EAW83705;EAW83706;EAW83707;NP_001092097;NP_001092099;NP_001092100;NP_001229381;NP_116032;Q13568 Hs.521181 1647210;1652246;1669968;1796128 GDB:4585333;IRF5_452;SHGC-63648;STS-U51127 SLEB10 IRF-5;OTTHUMP00000212904;OTTHUMP00000212905;OTTHUMP00000212907;OTTHUMP00000212910;interferon regulatory factor 5 APPROVED protein-coding ENSG00000128604 6120 06240 607218;612245;612251 REVIEWED 1344104 IRF3 interferon regulatory factor 3 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 19 19 q13.3-q13.4 54854641 54860936 - 50162826 50169132 - 1580863;5128793;4891951;5128795;5685014;6480464;6907045 20673978;20720199;17027894;21235323 16988763;16984921;16940530;16585524;16537515;16513254;16501100;16394098;16344560;16199137;16189514;16182584;16154084;16153868;15955070;15919920;15767394;15764595;15761153;15695821;15510218;15489334;15452220;15303122;15251447;15220448;15107417;14982987;14747536;14747533;14739303;14703513;14702039;14557267;14555996;14555995;14517278;12883638;12829839;12829834;12702806;12582166;12524442;12477932;12473110;12354379;11972054;11940575;11907205;11884139;11846977;11724783;11303025;11162841;11124948;11035028;10920266;10805757;10521456;10492399;9865487;9803267;9566918;9488451;9463386;17182689;18636086;15502848;9649509;15315758;8524823;15276183;12692549;19434718;19258923;19239434;19213861;19211751;19201840;19153595;19152337;19124752;19038458;19028691;19017982;19012493;18927075;18818105;18781139;18713996;18711448;18676680;18641315;18635538;18579584;18539711;18450748;18440553;18362887;18272581;18272195;18252870;18216110;18203148;18082865;18029348;17761676;17703412;17652396;17641046;17626075;17608743;17560375;17540767;17526488;17449641;17393359;17328045;17251580;17215277;17142768;17126870;17121613;17079482;22127978;20418377;20933442;12138184;16143103;16362036;17823124;19170196;19349300;19380831;19426920;19445677;19515829;19553679;19625176;19646728;19692168;19701189;19706707;19710021;19854139;19890046;19955181;19956647;20048147;20048166;20154210;20308324;20331378;20351107;20360684;20381110;20483755;20485298;20503287;12604599;20501320;19858727;20711230;21182093;20211142;20826620;19826915;15342556;20511230;20631144;20980500;21084487;19913121;20628086;12062447;20604809;20886096;21419663;21225257;21228327;21248248;17079289;21698224;21281747;20454685;21245146;21200386;21859832;21468605;15841462;21497908;23122814;23303668;19454348;17138826;16301520;10082512;17296604;23027953;21120614;19265157;21632562;21816816;21835786;21347389;21890473;21906983;21935451;22028379;22294846;16846591;16979567;19893624;21079688;21903422;21931555;22027828;22114345;22307793;23552418;23596302;17015689;19656901;21940674;22072751;22170100;22158869;22208359;21768204;22388039;22394560;22394562;22745372;22079989;16699525;17599067;21782231;22479513;22588174;22593165;22908223;23077293;11314014;14668346;14729983;20628368;21988832;23154183;23281696;23532851;9660935;15582653;20581830;23478265;20380698;20380700;21084468;21411754;21886773;22647704;22709905;22843696;23028469 3661 E2GIM5;E2GIM6;E2GIM7;E2GIM8;E2GIM9;M0QX56;M0QXC8;M0QYT9;M0QYX3;M0QZB7;M0QZB8;M0R007;M0R0R8;M0R0X9;M0R205;M0R3C2;M0R3E9;M0R3H7;Q14653;Q5FBY4 AA568913;AB102884;AB102886;AB102887;ABBA01032913;AC011495;AF112181;AK057577;AK292027;AK314421;AMYH01009916;BC000660;BC009395;BC071721;BM477213;BP347627;BU859806;CB961512;CH471177;DA938709;DA999381;HM357932;HM357933;HM357934;HM357935;HM357936;HM357937;NG_031810;NM_001197122;NM_001197123;NM_001197124;NM_001197125;NM_001197126;NM_001197127;NM_001197128;NM_001571;NR_045568;U86636;Z56281 AAC68818;AAD05262;AAH00660;AAH09395;AAH71721;ABM84381;ABM87305;ADN86147;ADN86148;ADN86149;ADN86150;ADN86151;ADN86152;BAD89413;BAD89415;BAD89416;BAF84716;BAG37040;CAA91227;EAW52510;EAW52511;EAW52512;EAW52513;NP_001184051;NP_001184052;NP_001184053;NP_001184054;NP_001184055;NP_001184056;NP_001184057;NP_001562;Q14653 Hs.289052;Hs.731922;Hs.75254 1664968;1725693;1775141 G62110;NIB1805;SGC34742 IRF-3;interferon regulatory factor 3 APPROVED protein-coding ENSG00000126456 6118 04769 603734 REVIEWED 1601797 IRGM immunity-related GTPase family, M This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis.[provided by RefSeq, Oct 2010] 5 5 q33.1 150207879 150208424 + 150226085 150228231 + 6480464;6907045;7240710 19491842;19422935;19266026;19174780;19165925;19098858;18985712;18936107;18587394;18580884;18438406;17921695;17554300;17554261;16888103;16277747;14576437;12477932;7561525;22713085;19120485;19683022;19750224;20024904;20106866;20360734;20395867;20547146;21102437;21102463;22370477;20210993;19760754;20886065;20962850;21049557;21072187;20737271;21079743;21283700;23049477;21508684;22174682;22228152;22163006;21981022;23128233;23365659 345611 A1A4Y4;H0YBM2 ABBA01026269;AC010441;AMYH01015710;BC038539;BC128167;BC128168;EU742619;FJ824056;NG_027809;NM_001145805 A1A4Y4;AAI28168;AAI28169;ACF21844;ACO88909;NP_001139277 Hs.519680;Hs.652148 2219912 LRG47__6422 IFI1;IRGM1;LRG-47;LRG47;MGC149263;MGC149264 LPS-stimulated RAW 264.7 macrophage protein 47 homolog;LRG-47-like protein;OTTHUMP00000224493;immunity-related GTPase M;immunity-related GTPase family M protein;immunity-related GTPase family M protein 1;immunity-related GTPase family, M1;interferon-inducible protein 1 APPROVED protein-coding ENSG00000237693 29597 607948;608212;612278 REVIEWED 1317251 IRF7 interferon regulatory factor 7 IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq, Jul 2008] 11 11 p15.5 602555 605999 - 612555 615999 - 1580863;6480464;6907045 21167895;22112518;9315633;9786932;19152337;19017798;18987133;18710948;18635538;18539711;18505922;18397234;18227218;17522209;17404045;17393359;17374731;17121613;17079482;16778376;16344560;16341674;16237059;15695821;15664995;15361868;15308637;15265881;14759258;14747533;14517278;12915551;12604599;12539042;12374802;11884139;11877397;11846980;11162841;11124948;11073981;11031102;10924517;9865487;9660935;15664159;17599067;18641315;22588174;12477932;12692549;14739303;14968112;15251447;15767370;16153868;17823124;19349300;19404407;19426920;19515829;20112359;20154210;20331378;20381110;20392859;20483755;20668674;20689596;19858727;20962850;15276183;20209099;20980251;16484229;20810735;20844090;20980500;21084487;19880818;20588308;20628624;20943654;16127453;21360504;20581830;23535064;21435390;21183682;19285439;21903422;21940674;22095711;21890473;21906983;22194884;22455868;16979567;22301143;22140520;21926187;21931555;21632682;20467438;21988832;23175366;11314014;14729983;18922877;22433914;22505724;22709905;22787218 3665 B4E1B1;E9PIA7;E9PQ11;E9PR03;E9PSE3;Q92985 ABBA01015197;AF076494;AF277159;AK303752;AMYH01003288;AMYH01003289;AP006284;BC136555;BC144242;BM849172;CH471158;DA601567;DA967682;KC477210;NG_029106;NM_001572;NM_004029;NM_004031;U53830;U53831;U53832;U73036 AAB17190;AAB80686;AAB80688;AAB80690;AAB80691;AAC70999;AAG30003;AAI36556;AGI78456;BAG64723;EAX02355;EAX02356;EAX02357;EAX02358;EAX02359;EAX02360;NP_001563;NP_004020;NP_004022;Q92985 Hs.166120 1683759;1792572 PMC154027P4;RH99331 IRF-7H;IRF7A;IRF7B;IRF7C;IRF7H IRF-7;OTTHUMP00000162886;OTTHUMP00000162887;OTTHUMP00000162888;OTTHUMP00000229433;OTTHUMP00000229434;interferon regulatory factor 7;interferon regulatory factor-7H APPROVED protein-coding ENSG00000185507 6122 05441 605047 REVIEWED 1606259 IRGC immunity-related GTPase family, cinema 19 19 19 q13.31 41023793 41027752 + 48912078 48916013 + 44220214 44224173 + 6480464 12477932;20237496;21832049 56269 J7NNX4;M0R0T1;Q6NXR0 ABBA01040868;AC005622;AMYH01009840;BC033853;BC066939;CH471126;FR734011;HC007054;HC044623;NM_019612 AAC34467;AAH33853;AAH66939;CBH19332;CBH30641;CBY65974;EAW57221;EAW57222;NP_062558;Q6NXR0 Hs.515444 CINEMA;IFGGE;IRGC1;Iigp5;R30953_1 OTTHUMP00000206186;immunity-related GTPase cinema 1;immunity-related GTPase family, cinema 1;interferon inducible GTPase 5;interferon-gamma-inducible GTPase IFGGE protein;interferon-inducible GTPase 5 protein-coding ENSG00000124449 28835 15200 VALIDATED 1351360 IRF8 interferon regulatory factor 8 Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008] 16 16 q24.1 84490275 84513713 + 85932774 85956212 + 6480464;6484113 1460054;8861914;19542426;19525953;19074829;18922617;18701018;18596738;18580679;18469857;18316378;18246201;18195016;17687331;17386941;17200120;17121613;16918696;16914719;16886895;16504056;16484229;15837792;15761153;15489334;15489234;15371411;12477932;11997525;10991940;10734131;10102295;10092656;9742224;7768900;8550813;21524210;20435892;20573402;12904288;17579016;18029348;19801548;19865102;19879194;20062064;20201926;20430450;20980339;21131588;20634887;20679491;21178004;21441570;21220691;21216962;21228327;21487040;21552549;21475251;22879909;21625229;22003407;22046141;19201866;21903422;22082370;22318606;21890473;22262849;23511034;22096565;21779181;22446963;22464253;21833088;23468103;12549820;22942423;9593745;11483597;23128233;23314186;23308054 3394 H3BNX4;H3BPS5;H3BQF9;H3BQH6;H3BQK3;H3BRT4;H3BT31;H3BVC2;Q02556 AA232881;ABBA01034284;AC092723;AI307662;AK313524;AMYH01007889;BC126247;BF110315;BG107396;BI835080;CB214983;CH471114;M91196;NG_029333;NM_002163 AAB63813;AAI26248;BAG36304;EAW95435;NP_002154;Q02556 Hs.137427 1699520;1721245;2148105;2179848;2217462;5094326 D16S3205;G54712;G59469;ICSBP1_3162;RH103354;RH69196 H-ICSBP;ICSBP;ICSBP1;IRF-8 OTTHUMP00000175003;interferon consensus sequence binding protein 1;interferon consensus sequence-binding protein;interferon regulatory factor 8 APPROVED protein-coding ENSG00000140968 5358 03336 601565;614893;614894 REVIEWED 1318730 IRF9 interferon regulatory factor 9 14 14 q11.2 23700262 23705614 + 24630422 24635774 + 1580863;6480464;6484113;6907045 17923090;1630447;19258923;18456457;18370868;17703412;17559358;17121613;16849320;16689942;16595158;16318580;15714000;15668228;15489334;15194680;15093743;14702039;12693554;12509459;12477932;12060499;11997525;11846981;10860992;10702714;10199920;9417904;9242679;8943351;8454630;7829101;8550813;18029348;19604093;19752753;20331378;20389019;20503287;20634891;20964804;20211142;20980339;17351669;21268015;20943654;20403236;21697347;21903422;21957129;19322201;19786833;21988832;22902549;12799427;12549820 10379 H0YMB0;H0YMB6;H0YNM9;H0YNP4;H7BXP4;Q00978 ABBA01061334;AK295467;AK308347;AL136295;AMYH01005610;BC035716;BI497082;BI919023;CH471078;G13571;M87503;NM_006084;U92994 AAA58687;AAH35716;ABZ92221;BAG58398;EAW66092;EAW66093;EAW66094;NP_006075;Q00978 Hs.1706 1681909;1760145;2129422;2134475;5118097 D14S1328;G64280;RH1632;RH76410;SHGC-132043 IRF-9;ISGF3;ISGF3G;p48 IFN-alpha-responsive transcription factor subunit;ISGF-3 gamma;ISGF3 p48 subunit;OTTHUMP00000164692;OTTHUMP00000164693;interferon regulatory factor 9;interferon-stimulated gene factor 3 gamma;interferon-stimulated transcription factor 3, gamma (48kD);interferon-stimulated transcription factor 3, gamma 48kDa;transcriptional regulator ISGF3 subunit gamma 2315792 GLUCO171_H protein-coding ENSG00000213928 6131 00960 147574 VALIDATED 1352224 IRS4 insulin receptor substrate 4 IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008] X X q22.3 107862368 107866307 - 107975727 107979607 - 1580863;6480464;6907045;7248547 23055040 9261155;9553137;19029952;18660489;18165436;17965023;17408801;15870689;15331607;15324660;15316024;15155816;12774026;12732844;12639902;12052866;11912194;11316748;10594015;9614078;9609109;21145461;21407155;20340132;19913121;20628086;14968112;17215244;17720279;20416304;20811636;16273093;21360678;21706016;22810585;23398456;23455922;16196087;17314511;21151955;15717329;21081666;21517825;21726808;21955513;21139048;21890473;22167131;21852217;22586326;22337587 8471 O14654 ABBA01036043;ABBA01036044;ABBA01036045;AF007567;AL035425;AMYH01022835;CH471120;NG_013239;NM_003604 AAC51738;AAI56189;AAI56978;EAX02682;NP_003595;O14654 Hs.460872 1701200;1794974;2110519;5017905;5024545 D1S3695;IRS4;MARC_37657-37658:1077807976:1;PMC86565P3;RH104228 IRS-4;PY160 160 kDa phosphotyrosine protein;OTTHUMP00000023837;insulin receptor substrate 4;phosphoprotein of 160 kDa;pp160 APPROVED protein-coding ENSG00000133124 6128 04620 300904 REVIEWED 1606345 IRX1P1 iroquois homeobox 1 pseudogene 1 13 13 13 q12.12 6378249 6384098 + 24212992 24218841 + 25319404 25320257 + 646390 ABBA01007894;AL391560;AMYH01004976;NG_009487 pseudo 33315 INFERRED 1606733 IRGQ immunity-related GTPase family, Q 19 19 19 q13.31 40890998 40902768 - 48787866 48791516 - 44088519 44100287 - 6480464 17353931;15146197;14702039;12477932;8889548;19773279;16277747 126298 M0QZP8;Q8WZA9 ABBA01040863;AC006276;AF322648;AK022583;AK096168;AK124786;AK128554;AMYH01009840;BC137020;BC137021;BC144451;BM669904;CH471126;CN315405;NM_001007561 AAI37021;AAI37022;AAI44452;AAL33884;BAC85949;BAC87498;EAW57205;NP_001007562;Q8WZA9 Hs.6217 1674946;1721707;1768481;5014039;5015404;5015619;5015861;5015879;5016478;5016851;5017266;5020242;5020414;5020740;5020946;5020948;5021228;5022200;5022450;5022578;5022651;5024039;5024413;5024756;5037552;5109281;5118576;7185938 D10S16;D10S275;D11S2612;D11S2921;D11S3114;D11S3430;D16S325;D19S996;D1S1423;D1S1425;D22S1584;D8S2279;G35510;G59716;GDB:312794;GDB:314949;GDB:434012;HSC07E112;L17688;L17705;L17809;L17877;L17971;L18426;L18506;RH80030;RH80031 FKSG27;FLJ12521;FLJ38849;FLJ42796;FLJ46713;IRGQ1 immunity-related GTPase family Q protein;immunity-related GTPase family, Q1 protein-coding ENSG00000167378 24868 17161 VALIDATED 736204 IRS2 insulin receptor substrate 2 This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008] 13 13 q34 109204185 109236915 - 110406184 110438914 - 1625025;1331525;1299201;1580595;1625023;1580863;2302071;6480464;6483014;6484113;6907045;7240710;7248547 15811564;15118671;12891559;12850498;11030756;15316008;20846698;23055040 7675087;9495343;16814735;17925406;12167717;19332049;19190347;19124510;19109239;19038974;18992263;18802016;18660489;18611262;18506362;18079194;18059035;17914103;17901049;17898946;17416760;17374994;17361103;17353931;17222321;17081983;17068339;17051426;17030631;16964243;16839840;16652127;16489531;16448675;16150916;16127164;16086274;16030120;15940190;15926113;15678496;15588985;15514089;15324660;15308584;15302935;15292987;15247132;15155816;15127203;15123681;15057823;14978080;14653106;14604996;14534541;12960006;12821935;12765968;12732844;12687350;12554758;12519871;12493740;12477932;12475767;12379806;12228220;12213887;12198247;12189449;12107746;12052866;11872698;11641236;11600548;11522686;11505033;11481324;11147812;11054408;10856136;10679027;10594015;10480623;10417350;10077005;9852124;9651378;9651339;9648831;9609109;9535722;9334184;9312143;9295312;9195949;9113989;8954948;8938433;8910607;8732688;8662806;8626379;8621590;8550573;12933652;19561084;12783867;7876077;7559579;7499365;11912194;15778465;20092705;12660731;19259821;19377890;19447894;19509476;19604268;19690174;19755487;19818665;19875459;19878940;19887537;19926323;19929986;20184486;20210696;20354165;20416077;20416304;20685959;19913121;20628086;20634197;21045156;21042750;21777391;21700708;21325637;22974441;22205343;22465474;22623531;19322201;17979178;21706016;23216712;15161933;21771880;21933986;21984580;21258861;21693764;21801267;21890473;22287730;21852217;22147666;21340542;23251408;22912850;23018177;23049845;22994406;23594372;22523112;22939629;18271526;22844442 8660 Q9P084;Q9Y4H2 AB000732;AB050954;ABBA01027004;ABBA01027005;AF073310;AF080254;AF161416;AF288517;AF322114;AF322115;AF385932;AF385933;AL162497;AMYH01005372;AMYH01005373;BC012414;BC026044;BC042858;BC063516;BC110638;CA416129;CA952668;NG_008154;NM_003749 AAD21531;AAD55239;AAF28976;AAG50013;AAK66750;AAK66751;AAK83053;BAA24500;BAB84688;NP_003740;Q9Y4H2 Hs.442344 1646553;1662790;1665727;2159608;5092810 A006G14;D13S1354;G32344;SHGC-36212;WI-11813 IRS-2 OTTHUMP00000018696;insulin receptor substrate 2 1643276;1643297;1643588;2314799 BW200_H;BW204_H;GLUCO116_H;GLUCO4_H APPROVED protein-coding ENSG00000185950 6126 02878 125853;600797 REVIEWED 1606062 IRS3P insulin receptor substrate 3, pseudogene 7 7 7 q22.1 94892678 94897550 + 100000814 100005687 + 100162878 100167751 + 6480464 14702039;12488959;12477932;9799793;20226764;22635093 442338 AACC02000084;ABBA01013198;AC069281;AMYH01017738;CH236956;NG_005538 2168562;2182882 SHGC-30530;WI-16019 IRS3L APPROVED pseudo 6127 INFERRED 733473 IRS1 insulin receptor substrate 1 This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] 2 2 q36 227308182 227372719 - 227596033 227663506 - 728920;1624973;1624974;1624975;1580863;1580595;1581310;1581313;2302071;6480464;6483015;6483014;6482862;6482864;6482861;6482863;6483016;6483008;6484113;6482860;6907045;7207057;7240710;7207062;7207061;7207063;7207055;7248547 1648180;7623569;10591678;12679424;12850498;16445997;15272025;15316008;19996384;20846698;19781177;10842668;22476196;15561966;22001674;21206533;22476197;14633864;22982470;22983684;22820932;22942179;23055040 7537849;7559478;7541045;7782332;16043515;8388384;9295312;11018022;1311924;8513971;16814735;17925406;15182363;12167717;19453261;19420105;19418728;19391107;19375584;19261680;19140314;19124510;19117011;19053277;19038974;18996102;18992263;18992148;18952604;18851963;18834857;18716398;18710329;18676680;18660489;18642444;18615538;18615395;18611262;18498745;18398029;18316360;18305032;18285345;18264722;18222120;18216326;18208559;18059035;17914103;17908691;17905199;17898946;17868644;17827393;17827156;17721885;17719609;17647275;17640984;17638892;17591841;17575262;17570749;17465001;17459875;17446166;17443311;17416760;17374994;17361103;17360977;17332342;17279354;17222824;17222321;17179152;17124363;17081983;17075427;17068339;17051426;17046546;17044098;17030631;17030605;17020651;16970908;16914728;16752222;16648810;16603055;16522427;16516141;16489531;16448675;16418171;16367885;16354680;16284649;16284438;16233930;16230374;16131083;16129690;16129678;16128672;16127460;16084882;16037106;16030120;16020478;15985484;15965906;15940190;15926113;15849359;15802620;15781195;15759454;15705377;15678496;15665022;15636429;15634339;15629149;15604215;15592455;15590636;15588985;15582274;15581831;15561965;15489334;15474880;15364919;15324660;15318176;15308584;15247132;15240653;15222685;15209769;11147812;11120660;11063744;11035789;11006284;10856136;10843189;10722755;10679027;10660596;10497255;10455176;10417350;10411883;10206679;9837978;9822703;9792713;9756938;9748281;9422753;9415396;9312143;9174053;9111084;8810325;8732688;8723689;8662806;8633037;8631859;15161794;15155816;15127203;15069075;15044323;15003536;15001544;14988278;14966273;14707024;14693412;14671192;14668342;14642408;14604996;14602724;14583092;14559999;12960006;12934392;12910680;12843189;12821935;12819898;12765939;12763374;12732844;12624099;12606535;12588284;12565902;12560071;12554758;12524443;12510059;12493740;12477932;12477526;12475767;12417588;12414625;12409308;12370850;12358865;12354757;12351658;12228220;12220227;12213887;12173038;12107745;12031982;12006586;11978177;11877394;11874945;11872698;11775217;11739394;11694888;11606564;11522686;11317670;11289056;11287026;11208867;11162588;22457523;8626671;8621590;8599766;8557683;8550573;8530377;8505282;8349691;8240352;8104271;8020946;7935386;7559507;7542745;7499365;7499194;7488107;1381348;9843575;8536716;8491186;11912194;11969417;11579209;12730242;12107746;9492017;8626379;10082579;8776723;8621530;11287630;11604231;15778465;9202037;10026153;8524391;7935368;11172806;21204696;21289241;12783867;17276034;12660731;14968112;15572028;16582879;17721511;18521741;19170196;19259821;19328476;19447894;19557384;19561084;19578796;19625176;19639489;19671924;19692168;19716569;19730683;19734900;19803812;19843326;19843521;19926323;19956100;20012307;20170352;20176643;20207740;20210696;20229450;20384434;20416077;20416304;20437058;20437825;20452482;20453000;20490451;20540360;20540670;20363874;15516986;15522123;20538960;20730618;20738937;20824664;20855565;20977583;19924529;20351777;16734387;20581827;20685959;19913121;20571754;20602615;20628086;20634197;20673868;20682687;22664743;22974441;23048032;21832049;22523112;21706003;21464990;19035139;21454638;21325637;21353221;21700086;21569802;22759779;22766331;21465511;21666240;10854852;22323484;21612394;22205343;22348058;22575725;22581228;22589738;19953087;20663861;21139048;21677657;21850561;11781100;16273093;21706016;21917432;23000965;23073384;23201159;10669726;14511371;22558377;7493946;21645940;23583389;21852217;20686565;22187946;22266116;22479202;12933652;15514089;23251408;23604317;23400783;22576021;23418314;22994406;8175658;22729394;23221578;23353623;18729074;21939528;23045529;23478262;23697264;22617042 3667 P35568 ABBA01050190;AC010735;AMYH01011538;AMYH01011539;AW469017;BC053895;CH471063;HC477893;NG_015830;NM_005544;S62539;S85963 AAB21608;AAB27175;AAH53895;ACE86532;ACE87211;CBL64020;EAW70838;EAW70839;NP_005535;P35568 Hs.471508 1342366;1708378;1744479;1744481;1770859;1772860;1794976;1796130;2130855;2149882;2166541;2183841;2185923;5022695 D2S2389;D2S2647;GDB:456117;GDB:456125;IRS1;IRS1_760;PMC86565P4;RH17903;RH48158;RH68643;RH69408;SHGC-52849;SHGC-82871;WI-18042 HIRS-1 IRS-1;OTTHUMP00000164234;insulin receptor substrate 1 2289299;2289306;2289315;2289332 BW373_H;BW374_H;BW375_H;BW376_H APPROVED protein-coding 6125 00943 125853;147545 REVIEWED 1346652 IRX2 iroquois homeobox 2 IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004] 5 5 5 p15.33 2778127 2783618 - 2799880 2804769 - 2746279 2751769 - 1580863;6480464 18421076;16752383;12477932;11435706;10370142;8889548;15133517;22210879 153572 D6RH28;Q9BZI1 AB188492;ABBA01010211;ABBA01010212;ABBA01010213;AC091891;AF319967;AI131378;AI928035;AMYH01014868;AY335939;AY335940;BC065189;BM969863;CH471102;NM_001134222;NM_033267 AAH65189;AAK01202;AAQ16545;AAQ16546;BAD37140;EAX08136;NP_001127694;NP_150366;Q9BZI1 Hs.282089 1797754;5017823 C5orf38;IRX2_2363 IRXA2 OTTHUMP00000115435;OTTHUMP00000220684;homeodomain protein IRXA2;iroquois homeobox protein 2;iroquois-class homeodomain protein IRX-2 APPROVED protein-coding ENSG00000170561 14359 09368 606198 VALIDATED 1349465 IRX1 iroquois homeobox 1 This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] 5 5 5 p15.3 3626588 3631937 + 3649168 3654517 + 3596168 3601517 + 1580863;6480464 22542470;19240061;18559491;18421076;15489334;12477932;11435706;10370142;8889548;20029986;20306291;20440264;21602894;21649733;19322201 79192 P78414 ABBA01009411;ABBA01009412;AC016595;AMYH01014874;AY335938;AY335947;BC029160;CH471102;NM_024337;U90307 AAB50005;AAH29160;AAI66635;AAQ16544;AAQ16553;EAX08131;NP_077313;P78414 Hs.424156 1679551;2159063 RH98982;SHGC-56703 IRX-5;IRXA1 OTTHUMP00000220489;homeodomain protein IRXA1;iroquois homeobox protein 1;iroquois-class homeodomain protein IRX-1 APPROVED protein-coding ENSG00000170549 14358 16203 606197 VALIDATED 2881178 ISCA1P2 iron-sulfur cluster assembly 1 pseudogene 2 1 1 q42.13 202445289 202445786 + 229177839 229178336 + 100288517 ABBA01013465;AL137793;AMYH01001807;NG_022828 APPROVED pseudo 38023 INFERRED 1320389 IRX5 iroquois homeobox 5 This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 16 16 16 q12.2 39479883 39483213 + 53522612 53525898 + 54965111 54968397 + 1580863;6480464 18519790;16527195;12477932;11435706;10370142;21546767;17396150;22581230 10265 H0YML8;P78411 ABBA01066518;AC106738;AMYH01007680;AY335944;AY335945;BC074850;BC131510;HI574210;NG_032773;NM_001252197;NM_005853;U90304;U90309 AAB50002;AAB50007;AAI31511;AAQ16550;AAQ16551;CBX47594;NP_001239126;NP_005844;P78411 Hs.435730 5492623;5492691 UniSTS:481801;UniSTS:482043 HMMS;IRX-2a;IRXB2 OTTHUMP00000164259;OTTHUMP00000164260;homeodomain protein IRX-2A;homeodomain protein IRXB2;iroquois homeobox protein 5;iroquois-class homeodomain protein IRX-5 APPROVED protein-coding ENSG00000176842 14361 08395 606195;611174 REVIEWED 2881179 ISCA1P3 iron-sulfur cluster assembly 1 pseudogene 3 17 17 17 q22 49017169 49019142 + 49910075 49915640 + 52555068 52557041 + 100131092 ABBA01041279;AC010767;AMYH01008487;NG_022956 APPROVED pseudo 38024 INFERRED 2946936 ISCA1P5 iron-sulfur cluster assembly 1 pseudogene 5 19 19 p13.11 19843211 19843673 + 19937823 19938285 + 100288250 ABBA01051343;AC011477;AMYH01009611;NG_023026 APPROVED pseudo 38026 INFERRED 1625835 ISCA1P1 iron-sulfur cluster assembly 1 pseudogene 1 5 5 5 q12.1 59068136 59070104 - 62106953 62108926 - 62071203 62073171 - 20379614;20877624 389293 ABBA01048357;AC025477;AMYH01015119;NG_021247 ISCA1L APPROVED pseudo 33263 INFERRED 1319589 IRX4 iroquois homeobox 4 5 5 5 p15.3 1914716 1920055 - 1930549 1935880 - 1877541 1882880 - 1582289;1580863;6480464 11238910 10625552;18497553;12477932;11382777;10370142;19913121;20628086;21544582;21779381;21906983;22323358 50805 D6RAS8;D6RC00;H1AFL0;P78413 AB690778;AB690779;AB690780;AB690781;ABBA01034194;AC025183;AF124733;AI566193;AMYH01014865;AY335941;BC110912;BC136505;BC136506;BC144204;CH471102;NM_001278632;NM_001278633;NM_001278634;NM_001278635;NM_016358;U90306 AAB50004;AAF23887;AAI10913;AAI36506;AAI36507;AAQ16547;BAL44219;BAL44220;BAL44221;BAL44222;EAX08138;EAX08139;NP_001265561;NP_001265562;NP_001265563;NP_001265564;NP_057442;P78413 Hs.196927 IRXA3;MGC131996 OTTHUMP00000115477;OTTHUMP00000220473;OTTHUMP00000220474;OTTHUMP00000220475;OTTHUMP00000220476;homeodomain protein IRXA3;iroquois homeobox protein 4;iroquois-class homeodomain protein IRX-4;iroquois-class homeodomain protein IRX-4 variant 1;iroquois-class homeodomain protein IRX-4 variant 2;iroquois-class homeodomain protein IRX-4 variant 3;iroquois-class homeodomain protein IRX-4 variant 4 protein-coding ENSG00000113430 6129 09369 606199 VALIDATED 3003950 ISCA1P6 iron-sulfur cluster assembly 1 pseudogene 6 2 2 2 q14.3 122581320 122583289 - 128991320 128993300 - 129274863 129276832 - 100130549 ABBA01040164;AC012451;AMYH01011030;NG_023024 APPROVED pseudo 38027 INFERRED 3563726 ISCA1P4 iron-sulfur cluster assembly 1 pseudogene 4 15 15 15 q15.1 18008559 18009382 - 39027977 39029102 - 41240685 41241508 - 100128012 ABBA01038427;AC020661;AMYH01006566;NG_022952 APPROVED pseudo 38025 INFERRED 3231816 ISCA2P1 iron-sulfur cluster assembly 2 pseudogene 1 22 22 q12.1 10844643 10845092 - 27040851 27041300 - 23382691 100287193 ABBA01055203;AMYH01012684;NG_029633;Z99774 APPROVED pseudo 38022 INFERRED 3051017 ISCUP1 iron-sulfur cluster assembly enzyme pseudogene 1 1 1 143289956 143290343 - 170180151 170180538 - 100462833 ABBA01027944;AL445203;AMYH01001490;NG_022742 APPROVED pseudo 38021 INFERRED 1316613 IRX3 iroquois homeobox 3 IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009] 16 16 16 q12.2 38831683 38834849 - 52874713 52877879 - 54317212 54320378 - 1580863;6480464 19240061;15489334;12477932;10370142;9427753;21546767;20080751 79191 J3KS07;J3QR11;P78415 ABBA01066503;AC018553;AK309146;AMYH01007678;AY335942;AY335943;BC023667;BC034328;CH471092;NM_024336;U90308 AAB50006;AAH23667;AAH34328;AAQ16548;AAQ16549;ABM82934;ABW03467;EAW82815;NP_077312;P78415 Hs.499205 2169493 SHGC-61146 FLJ99187;IRX-1;IRXB1 OTTHUMP00000164257;homeodomain protein IRXB1;iroquois homeobox protein 3;iroquois-class homeodomain protein IRX-1;iroquois-class homeodomain protein IRX-3 APPROVED protein-coding ENSG00000177508 14360 17162 612985 VALIDATED 1344383 IRX6 iroquois homeobox 6 16 16 16 q12.2 39872722 39878927 + 53915972 53922173 + 55358471 55364672 + 1580863;6480464 14702039;11435706;10370142;8889548;12477932;22589738 79190 P78412;Q9BZI2 ABBA01066521;AC109462;AF319966;AK125053;AK309149;AMYH01007680;AW449920;AY335937;AY335946;BC136573;BC136576;BM667197;CH471092;NM_024335 AAI36574;AAI36577;AAK01201;AAQ16543;AAQ16552;BAC86033;EAW82822;EAW82823;NP_077311;P78412 Hs.369907 1341621;2108173 D16S489;IRX6_8092 IRX-3;IRX7;IRXB3 homeodomain protein IRXB3;iroquois homeobox protein 1-like;iroquois homeobox protein 6;iroquois homeobox protein 7;iroquois-class homeodomain protein IRX-6 protein-coding 14675 12091 606196 VALIDATED 1350652 ISCA1 iron-sulfur cluster assembly 1 ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008] 9 9 9 q21.33 59449572 59467604 - 88069281 88087310 - 88879461 88897490 - 6480464 15489334;15262227;15164053;14702039;12477932;9110174;8619474;8125298;20877624;19656490;19864422;20302570;20186120;19322201;22323289 81689 B4DJI5;Q5TBE2;Q5TBE9;Q9BUE6 AA745613;ABBA01016308;ABBA01016309;AF038186;AF284752;AI436792;AK055643;AK225937;AK296093;AL137849;AL834356;AMYH01021474;AMYH01021475;AY015642;BC002675;BC053900;BC071621;BG772866;CH471089;NM_030940 AAG40950;AAG59854;AAH02675;AAH71621;BAG51546;BAG58847;CAD39021;EAW62712;EAW62713;NP_112202;Q9BUE6 Hs.449291 5094050;5113063 G34941;RH66922 HBLD2;ISA1;MGC4276;RP11-507D14.2;hIscA HESB like domain containing 2;HESB-like domain-containing protein 2;OTTHUMP00000021590;OTTHUMP00000021592;iron sulfur assembly protein IscA;iron-sulfur assembly protein IscA;iron-sulfur cluster assembly 1 homolog, mitochondrial APPROVED protein-coding ENSG00000135070 28660 17091 611006 VALIDATED 1319881 ISCA2 iron-sulfur cluster assembly 2 The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 14 14 14 q24.3 54998835 55000656 + 74030221 74031923 + 74960450 74962271 + 6480464 15489334;12477932;19913121;20628086;20877624;22323289 122961 G3V291;J3QSS7;Q86U28 ABBA01030717;AC005479;AK290728;AMYH01005856;BC015771;BC032893;BX114918;BX248252;CH471061;DB501282;NG_007117;NG_033074;NM_001272007;NM_194279 AAH15771;AAH32893;ADZ16099;BAF83417;CAD62580;EAW81179;EAW81180;NP_001258936;NP_919255;Q86U28 Hs.291079 1677971 RH65075 HBLD1;ISA2;c14_5557 HESB-like domain-containing protein 1;OTTHUMP00000245460;OTTHUMP00000245461;OTTHUMP00000245462;iron-sulfur cluster assembly 2 homolog, mitochondrial APPROVED protein-coding 19857 17090 615317 REVIEWED 1315002 ISG20 interferon stimulated exonuclease gene 20kDa 15 15 q26 86983043 86999883 + 89182039 89198879 + 6480464 11401564;9569007;12594219;9235947;15527770;15489334;12539042;12477932;9605874;18278447;21036379;21732829;16514659;21963094;23251661;22647704 3669 H0YMM4;H3BLY5;Q96AZ6 AB209639;ABBA01053000;ABBA01053001;AC104259;AK307769;AMYH01006909;AMYH01006910;BC007922;BC016341;BT006952;CH471101;CR456942;NM_002201;U88964;X89773 AAB53416;AAH07922;AAH16341;AAP35598;BAD92876;CAA61915;CAG33223;EAX02013;EAX02014;EAX02015;EAX02016;NP_002192;Q96AZ6 Hs.459265 5113936 RH93344 CD25;HEM45 OTTHUMP00000192918;estrogen-regulated transcript 45 protein;interferon-stimulated gene 20 kDa protein;promyelocytic leukemia nuclear body-associated protein ISG20 protein-coding 6130 05169 604533 PROVISIONAL 1601738 ISG20L2 interferon stimulated exonuclease gene 20kDa-like 2 1 1 1 q23.1 129763215 129768507 - 154959037 154964329 - 156692413 156697705 - 6480464 18065403;16710414;16189514;15489334;14702039;12477932;12429849;17474147;19060904;18029348 81875 Q9H9L3 ABBA01016649;AK021901;AK022733;AK095697;AL096734;AL590666;AMYH01001438;AY391837;BC000575;CH471121;NM_030980 AAH00575;AAS55433;BAB14212;EAW52919;EAW52920;NP_112242;Q9H9L3 Hs.301904 1692918;1754399;1792866;2160307;5014051;5015404;5015619;5016478;5017266;5020948;5021872;5024413;5037552;5109281;5118444 AL034171;D11S3114;D11S3316;D1S1425;D8S2278;D8S2279;G35510;GDB:434012;L17705;L17877;L18506;PMC166143P5;SHGC-132410;SHGC-30383;sY3084 FLJ12671 OTTHUMP00000038733;OTTHUMP00000038734;interferon-stimulated 20 kDa exonuclease-like 2 protein-coding 25745 07788 611930 PROVISIONAL 1607067 ISCU iron-sulfur cluster scaffold homolog (E. coli) Iron-sulfur (Fe-S) clusters are necessary for several mitochondrial enzymes and other subcellular compartment proteins. They contain sulfur and iron, and are created via several steps that include cysteine desulfurases, iron donors, chaperones, and scaffold proteins. This gene encodes the two isomeric forms, ISCU1 and ISCU2, of the Fe-S cluster scaffold protein. Mutations in this gene have been found in patients with myopathy with severe exercise intolerance and myoglobinuria. [provided by RefSeq, Jul 2008] 12 12 q24.1 107480512 107487273 + 108956294 108963160 + 6480464;7240710 15489334;11060020;16527810;8875867;18425540;18304497;18296749;16517407;16344560;16091420;15342556;14702039;12477932;15778465;20436681;21165651;11256614;19567699;19808020;20877624;20498629;20301757;22977270;21437321;23449350;20972266;21139048;21801864;21890473;22125086;23035118;23508953;22897349 23479 B1P7G3;B3KQ30;B4DNC9;F5H5N2;F5H672;Q9H1K1 ABBA01053133;AC008119;AK000574;AK022758;AK057251;AK293202;AK297862;AMYH01004731;AY009127;AY009128;BC003522;BC011906;BC061903;BG621612;BI597126;BM423850;BM921073;BP378051;BQ002528;BQ020993;BU602914;CH471054;DB095495;DB493673;EU329002;EU334585;FJ695196;NG_011857;NM_014301;NM_213595;U47101 AAC50885;AAG37427;AAG37428;AAH11906;AAH61903;ABM87293;ABW03871;ACA34743;ACA52543;BAG51892;BAG56742;BAG60191;EAW97818;EAW97819;EAW97820;EAW97821;EAW97822;NP_055116;NP_998760;Q9H1K1 Hs.615131 1684662;2182129;5106138;5106140 A005N44;D12S1907;G20365;RH25375 2310020H20Rik;HML;ISU2;MGC74517;NIFU;NIFUN;hnifU IscU iron-sulfur cluster scaffold homolog;NifU-like N-terminal domain containing;OTTHUMP00000238760;OTTHUMP00000238761;OTTHUMP00000238762;OTTHUMP00000238764;OTTHUMP00000238765;OTTHUMP00000241075;iron-sulfur cluster assembly enzyme ISCU, mitochondrial;nifU-like N-terminal domain-containing protein;nifU-like protein;nitrogen fixation cluster-like APPROVED protein-coding ENSG00000136003 29882 14828 255125;611911 REVIEWED 1321144 ISG15 ISG15 ubiquitin-like modifier The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012] 1 1 p36.33 938742 939782 + 948847 949920 + 1580863;5490977;6480464;6907045 20973890 18606809;18597038;18583345;18566215;18356159;18305167;18287095;17692280;17289916;17222803;17097911;17069755;16884686;16641915;16434471;16428300;16424026;16254333;16189514;16169070;16139798;16112642;16009940;15917233;15684817;15670748;15489334;15131269;14976209;12539042;12477932;12067988;12055236;11788588;11157743;10866800;10508226;16122702;19430494;19378789;19357168;19074853;19073728;19043203;18953482;18627608;10476939;8892645;8889548;8550581;7526157;7490683;3476954;3350799;3087979;2477469;2440890;2005397;1695131;1373138;17353931;16815975;20581239;20975683;19913121;20628086;20628624;20157543;17653289;17719635;19656964;19846672;19956859;20035788;20093371;20133869;20164219;20219937;20308324;19959962;20946978;20542004;18057259;20639253;21298066;21399617;21245344;22939629;21757684;22740306;21544738;21808041;22100648;21139048;21906983;22093708;22185919;22693631;22706304;22859821;23212917;23229543;19694548;21994560;22405323;22647704;22729740;22762019 9636 P05161 ABBA01016008;AL645608;AMYH01000104;AY168648;BC009507;BM712238;BT007297;BU161226;CH471183;M13755;M21786;NG_033033;NM_005101 AAA36038;AAA36128;AAH09507;AAN86983;AAP35961;ABM83640;ABW03539;EAW56295;NP_005092;P05161 Hs.458485 1665840;1682411;1688291;1725565;1792022;1794908;2165851 G62009;PMC135632P2;PMC84353P2;RH66824;RH80369;SHGC-74084;SHGC-74128 G1P2;IFI15;IP17;UCRP;hUCRP OTTHUMP00000038464;interferon-induced 15 kDa protein;interferon-induced 17 kDa protein;interferon-induced 17-kDa/15-kDa protein;interferon-stimulated protein, 15 kDa;ubiquitin cross-reactive protein;ubiquitin-like protein ISG15 APPROVED protein-coding ENSG00000187608 4053 00958 147571 REVIEWED 736062 ISL1 ISL LIM homeobox 1 This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008] 5 5 q11.1 50714715 50726321 + 50678958 50690564 + 2311117;2311116;6480464 11978668;15161765 7912209;15843409;19571884;18583962;18454440;18239644;18081024;17519333;17363077;17022998;16873704;16713999;16321656;15839736;15489334;12477932;11882901;11043578;10431247;9849969;9452425;9000074;8889548;8565076;7907017;7789634;1685766;21145461;19619559;19896915;20306291;20520780;20211142;21060249;20807224;21832049;21739268;23152444;23455924;22303449;22194342;22388755;21988832;22094256;23348208;23259602;22480195 3670 D6RAK3;D6RBJ1;P61371 ABBA01015707;AC010478;AK290742;AMYH01015075;BC017027;BC031213;BM680522;CH471123;NG_023040;NM_002202;S70721;U07559 AAA81946;AAD14064;AAH31213;ABM82484;ABM85672;ABW03420;BAF83431;EAW54861;NP_002193;P61371 Hs.505 1743967;1781106;2106527;5494189;7186231 D10Bir8;D5S2482;GDB:383820;ISL1__6479 ISLET1;Isl-1 ISL1 transcription factor, LIM/homeodomain;OTTHUMP00000221832;OTTHUMP00000221833;OTTHUMP00000221834;OTTHUMP00000221965;insulin gene enhancer protein ISL-1;isl1 transcription factor, lim/homeodomain 1;islet-1 2289466 SLEP14_H APPROVED protein-coding ENSG00000016082 6132 02650 600366 REVIEWED 1602010 ISLR immunoglobulin superfamily containing leucine-rich repeat 15 15 15 q23-q24 51413268 51416393 + 72253140 72256265 + 74466087 74469212 + 6480464 9325048;12975309;12477932;10512678;8125298 3671 H0YL90;H0YN67;O14498 AB003184;AB024536;AB024537;ABBA01060485;AC023545;AK000817;AK074668;AK223267;AK225606;AMYH01006792;AY358871;BC022478;BC111013;CH471136;CQ783558;NM_005545;NM_201526 AAH22478;AAI11014;AAQ89230;ABW03309;ABW03651;ABW03652;BAA22848;BAA85970;BAA85971;BAD96987;BAG51985;CAF86725;EAW99357;EAW99358;NP_005536;NP_958934;O14498 Hs.699822;Hs.744405 1655004;1777567 Bdy23b10;STS-Z38345 HsT17563;MGC102816 OTTHUMP00000174967;OTTHUMP00000174968;immunoglobulin superfamily containing leucine-rich repeat protein protein-coding ENSG00000129009 6133 03636 602059 VALIDATED 1605977 ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 15 15 15 q24.1 51368842 51376270 + 72209998 72216196 + 74421715 74429143 + 6480464 16344560;14702039;12975309;12477932;10819331 57611 H3BM69;H3BM95;H3BNZ6;Q6UXK2 AB040898;ABBA01060483;AC010931;AK092297;AK092302;AK096602;AK290467;AMYH01006792;AY358316;BC028042;BC114551;BC152429;BI917487;CH471136;DA791954;DA911394;NM_001130136;NM_001130137;NM_001130138;NM_020851 AAI14552;AAI52430;AAI69327;AAQ88682;BAA95989;BAF83156;BAG52525;BAG52527;BAG53336;EAW99359;EAW99360;EAW99361;NP_001123608;NP_001123609;NP_001123610;NP_065902;Q6UXK2 Hs.254775 5015619 D11S3114 KIAA1465;LINX OTTHUMP00000174969;immunoglobulin superfamily containing leucine-rich repeat protein 2;leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein protein-coding ENSG00000167178 29286 13865 614179 VALIDATED 1347473 ISOC1 isochorismatase domain containing 1 5 5 5 q22.1-q33.3 124561590 124580869 + 128458341 128477620 + 128430442 128449721 + 737633;6480464 12477932 14561759;18566572;15489334;10810093;21139048;19322201;22863883 51015 D6RGE2;Q96CN7 ABBA01068858;ABBA01068859;AC008679;AF151869;AK025787;AMYH01015605;BC008367;BC014105;BG715081;CH471062;NM_016048 AAD34106;AAH08367;AAH14105;ABM83152;ABM86353;EAW62386;NP_057132;Q96CN7 Hs.483296 1754711;1849940;1849942;2145092 A001U39;G19670;SHGC-133073;SHGC-64018 CGI-111 OTTHUMP00000223219;OTTHUMP00000223221;isochorismatase domain-containing protein 1 protein-coding ENSG00000066583 24254 VALIDATED 732662 ISL2 ISL LIM homeobox 2 15 15 15 q23 53555368 53561037 + 74416202 74421871 + 76629147 76634816 + 1580863;6480464 21697133;21145461;17091338;15489334;15302935;14702039;12477932;9452425;21190559;21139048 64843 H0YKY2;H0YN25;Q96A47 AB593133;ABBA01060550;AC027243;AK001022;AMYH01006821;BC011967;BC012136;CH471136;NM_145805 AAH11967;AAH12136;ABZ92375;BAG50849;BAJ84073;EAW99220;NP_665804;Q96A47 Hs.444677 1646176;1687195 G09837;RH92851 FLJ10160 ISL2 transcription factor, LIM/homeodomain, (islet-2);OTTHUMP00000184891;insulin gene enhancer protein ISL-2;islet-2 protein-coding ENSG00000159556 18524 11053 609481 PROVISIONAL 6893223 ISM1-AS1 ISM1 antisense RNA 1 20 13218067 13220334 - 12477932 100505536 ABBA01053961;AL050320;AMYH01011721;BC038745;BX092222;DB453950;NR_040043 Hs.665253 1659684 Z94575 miscrna 44313 VALIDATED 1351413 ISM1 isthmin 1, angiogenesis inhibitor 20 20 20 p12.1 13272473 13351368 + 13150418 13229297 + 13202418 13281297 + 6480464 16344560;15489334;12477932;12128218;11780052;19915575;21544092 140862 B1AKI9 ABBA01053961;ABBA01053962;AK307409;AL050320;AL133463;AMYH01011721;BC017997;BQ771595;CR982468;DB169194;DB202450;NM_080826 AAH17997;B1AKI9;NP_543016 Hs.559353 1659684;1764453;2168797 SHGC-148053;WI-15703;Z94575 C20orf82;ISM;Isthmin;bA149I18.1;dJ1077I2.1 OTTHUMP00000030295;isthmin 1 homolog;isthmin-1 APPROVED protein-coding ENSG00000101230 16213 VALIDATED 1603577 ISM2 isthmin 2 The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009] 14 14 14 q24.3 57979296 58003790 - 77010490 77034912 - 77940737 77965210 - 6480464 16344560;16303743;15194193;14702039;12477932;7687569;18029348 145501 G3V2Q2;G3XAI3;H7C4M8;H7C5B3;Q8N501 ABBA01030647;AF111168;AJ583024;AK056709;AK075445;AK291600;AK300214;AMYH01005882;AMYH01005883;BC033140;BC101019;BC101020;BC101021;BC101022;BX248277;BX248280;BX248770;BX248771;CH471061;CR749863;DB025298;HC007338;NM_182509;NM_199296;R93324 AAD09622;AAH33140;AAI01020;AAI01021;AAI01022;AAI01023;BAC11626;BAF84289;BAG51795;BAG61982;CAD62605;CAD62608;CAD66577;CAD66578;CAE47313;CAH18707;CBH19474;EAW81293;EAW81294;EAW81295;EAW81296;NP_872315;NP_954993;Q6H9L7 Hs.29742 1649048;1651885;2147625 G35758;RH70052;WI-17934 DKFZp686E0215;FLJ32147;MGC119416;TAIL1;THSD3 OTTHUMP00000213070;OTTHUMP00000213072;isthmin 2 homolog;isthmin-2;thrombospondin and AMOP containing isthmin-like 1;thrombospondin and AMOP domain-containing isthmin-like protein 1;thrombospondin type-1 domain-containing protein 3;thrombospondin, type I domain-containing 3;thrombospondin, type I, domain containing 3 APPROVED protein-coding ENSG00000100593 23176 18182 612684 REVIEWED 5507896 ISY1-RAB43 ISY1-RAB43 readthrough This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011] 3 q 128806412 128880073 - 10574461;20967262 100534599 Q9ULR0 AB032986;ABBA01020924;ABBA01020925;ABBA01020926;ABBA01020927;ABBA01020928;ABBA01020929;AC108673;AMYH01013469;AMYH01013470;AMYH01013471;NM_001204890 BAA86474;NP_001191819 Hs.512661 KIAA1160 ISY1-RAB43 protein;OTTHUMP00000219427 protein-coding ENSG00000240682;ENSG00000261796 42969 VALIDATED 3160581 ISPD isoprenoid synthase domain containing This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 7 7 7 p21.2 16106872 16440699 - 16097786 16427472 - 16127152 16460947 - 6480464 22522421;10737800;11181995;12690205;20379614;9847074;19913121;20628086;23217329;2252242;22522420;23390185;20301468;23288328;23151678 729920 A4D126;Q6ZVA8 AACC02000008;ABBA01056627;ABBA01056628;ABBA01056629;AC004741;AC006035;AC073629;AC079155;AK124805;AMYH01017089;AMYH01017090;AMYH01017091;AMYH01017092;BE092109;CH236948;CH471073;DT932748;DY654823;NG_032690;NM_001101417;NM_001101426 A4D126;BAC85954;EAL24288;EAW93668;NP_001094887;NP_001094896 Hs.636502 1676540;1677594;1693306;1704456;1724861;1751161;1789130;2143339;2149846;2165512;2169010;2187076;5015881;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;G42357;G65701;GDB:1317458;GDB:1317788;GDB:1318026;GDB:335751;RH119193;RH48528;RH79611;RH93972;SHGC-105041;SHGC-58155;SHGC-82972 FLJ42815;MDDGA7;Nip;hCG_1745121 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein;4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog;OTTHUMP00000201687;OTTHUMP00000201709;isoprenoid synthase domain-containing protein;notch1-induced protein APPROVED protein-coding 37276 614631;614643 REVIEWED 1350867 ISOC2 isochorismatase domain containing 2 19 19 19 q13.42 53004437 53013142 - 60656168 60664824 - 55964345 55973049 - 737633;6480464 12477932 15231747;17658461;15489334;15342556;14718380;14702039;16169070;17207965;21832049;21890473;21906983 79763 K7EKW4;K7ENV7;Q96AB3 ABBA01020871;AC008735;AC135592;AK027122;AK131324;AK311540;AMYH01010000;AY207046;BC017344;BP226043;CH471135;CR457377;CS072409;CS463826;NM_001136201;NM_001136202;NM_024710 AAH17344;ADQ33205;BAB15666;BAD18484;CAG33658;CAI93547;CAM12696;EAW72379;EAW72380;EAW72381;EAW72382;EAW72383;NP_001129673;NP_001129674;NP_078986;Q96AB3 Hs.467306 1679431;1728949 D10Bir17;RH98724 FLJ18582 isochorismatase domain-containing protein 2, mitochondrial protein-coding ENSG00000063241 26278 08030 612928 VALIDATED 6481131 ITCH-IT1 ITCH intronic transcript 1 (non-protein coding) 100874302 AL109923 miscrna 41397 7248038 ISPD-AS1 ISPD antisense RNA 1 12477932 100506025 AACC02000008;ABBA01056629;AC004741;AC073629;AMYH01017089;AMYH01017090;AMYH01017091;BC034288;BC047638;BX115602;CH236948;DB462496;NG_032690;NR_038946;NR_038947 Hs.649029 miscrna ENSG00000229688 48962 VALIDATED 1605896 ISX intestine-specific homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008] 22 22 22 q12.3 19264831 19286082 + 33792130 33813380 + 35462130 35483380 + 6480464 18093975;12477932;22939624;23393141;23221382;23314748 91464 Q2M1V0 AB219123;ABBA01055411;AK025181;AL024494;AMYH01012739;BC112212;BC113633;CH471095;CR749372;NM_001008494;Z83853 AAI12213;AAI13634;ACE86874;ACE87562;ADR82886;BAG12059;CAH18225;EAW60047;NP_001008494;Q2M1V0 Hs.567637 1691236;1733252;5037552 D22S616;D8S2279;RH79673 DKFZp781N2395;MGC138417;Pix-1;RAXLX OTTHUMP00000198815;OTTHUMP00000198816;RAX-like homeobox;intestine-specific homeobox;pancreas-intestine homeodomain transcription factor APPROVED protein-coding ENSG00000175329 28084 17957 612019 VALIDATED 1605077 ISYNA1 inositol-3-phosphate synthase 1 This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011] 19 19 19 p13.11 18447020 18450933 - 18406625 18409943 - 18545198 18549111 - 6480464;6907045 15464731;15024000;14702039;12941308;12477932;16169070;16344560;22707096;21139048;21890473;21906983;21044950 51477 B7Z3K3;G3V1R9;J3KRH4;J3QKW9;J3QLD7;J3QRH1;J3QRY0;J3QS51;M0QYR5;Q9NVW7 ABBA01051263;AC008397;AF086921;AF207640;AF220259;AF220530;AI983065;AK001325;AK021526;AK092179;AK092433;AK093461;AK296022;AL137749;AMYH01009593;BC004320;BC018952;BC066902;BP392170;CH471106;DA615868;DB056699;DB244754;DC371373;NG_031809;NM_001170938;NM_001253389;NM_016368;NR_045573;NR_045574 AAF26444;AAF26739;AAG35698;AAH04320;AAH18952;AAH66902;AAP97151;ABM84391;ABM87335;BAA91626;BAB13837;BAG52493;BAG52722;BAH12239;CAB70904;EAW84703;EAW84704;EAW84705;EAW84706;NP_001164409;NP_001240318;NP_057452;Q9NPH2 Hs.405873 1651707;2130290;2153237;2155768 A007B29;G30241;STS-H90390;STS-N90320 INO1;INOS;IPS;IPS 1;IPS-1 IPS 1;MI-1-P synthase;MIP synthase;hINO1;hIPS;inositol-3-phosphate synthase 1;myo-inositol 1-phosphate synthase A1;myo-inositol-1-phosphate synthase APPROVED protein-coding ENSG00000105655 29821 17163 611670 REVIEWED 1606526 ISY1 ISY1 splicing factor homolog (S. cerevisiae) 3 3 3 q21.3 127279847 127296403 - 130330925 130362719 - 128846259 128880073 - 6480464;6907045 18029348;16103217;15489334;14702039;12477932;11991638;10574461;16159877;22939629;19471022 57461 A8MVI5;D6RC18;H0YA89;Q9ULR0 ABBA01020928;ABBA01020929;AC108673;AK024035;AMYH01013470;AMYH01013471;BC004122;BC004442;BC007409;BC019849;BG282120;NM_001199469;NM_020701 AAH04442;AAH07409;AAH19849;NP_001186398;NP_065752;Q9ULR0 Hs.512661 2134707 STS-T59511 KIAA1160;fSAP33 OTTHUMP00000174311;OTTHUMP00000174312;OTTHUMP00000219427;OTTHUMP00000224506;functional spliceosome-associated protein 33;pre-mRNA-splicing factor ISY1 homolog protein-coding ENSG00000240682 29201 13834 612764 VALIDATED 1603635 ITFG2 integrin alpha FG-GAP repeat containing 2 12 12 12 p13.33 4535723 4548173 + 2792124 2804367 + 2921787 2934237 + 6480464 12477932;17353931;16169070 55846 E7EST0;F5H1D0;F6YA60;H0YFM4;H0YFS4;H0YG72;H0YGR0;Q6PKU5;Q969R8 ABBA01048800;AC005841;AF220048;AK027483;AK130319;AK291110;AK297189;AK300905;AMYH01004182;AY599883;BC006552;BC013399;BI261823;BQ003916;BQ058412;CH471116;NM_018463 AAF67641;AAH06552;AAH13399;AAT09136;ABM83637;ABM86889;BAB55145;BAF83799;BAG59678;BAG62541;EAW88886;EAW88887;NP_060933;Q969R8 Hs.446098;Hs.448720 1645289;1648494;2217596 MDS028_3609;RH17481;SHGC-34277 MDS028 OTTHUMP00000161190;integrin-alpha FG-GAP repeat-containing protein 2 protein-coding ENSG00000111203 30879 14379 VALIDATED 1343086 ITCH itchy E3 ubiquitin protein ligase This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 20 20 q11.22 32414745 32562858 + 32951041 33099198 + 6480464;6484113;6907045;7240710 11748237;21135252;22385262;9647693;10940313;12450395;9462742;19343052;19341794;19116316;19096009;19090833;19073138;19016753;19001863;18805400;18718449;18718448;18701449;18628966;17947233;17115028;17110928;17038327;17028573;16888620;15946939;15703212;15678106;15489334;15469925;15051726;14602072;12477932;12226085;11826757;11782481;11780052;11356981;11318614;11046148;15013426;18544533;18334649;18559494;12682059;19131965;11244092;15778465;15252135;14559117;21145461;22507528;20491914;16051665;19737936;19765186;20522958;20650893;21724848;22057290;21093410;21383157;18029348;20682038;16387660;11526121;14684745;16055720;16901904;17110958;17463226;17592138;17719543;19580544;19592251;19615732;19881509;20068034;20143240;20170897;20395198;20300110;21212414;20818436;23236378;23253940;23255053;23255161;23287719;23370280;16908849;19478092;21326863;21474069;23538446;23564455;23644597;17013377;20392206;20484045;20676133;19808964;20504295;21903422;22009753;21107885;22275353;20639865;21191027;21987572;21572392;21963094;23000965;20972266;21139048;21890473;21906983;19806201;12223491;16446428;17174309;17437719;17652093;18246070;18278048;19307600;19322201;19818398;15350225;20855944;21936852;22773947;22778262;22826439;22496338;21863240;22053931;22505724;22935697;23071112;23039885 83737 Q96F66 AA730741;AB056663;AB209747;ABBA01019192;ABBA01019193;ABBA01019194;ABBA01019195;ABBA01019196;ABBA01019197;ABBA01019198;ABBA01019199;ABBA01019200;ABBA01019201;AF038564;AF095745;AK297809;AK304090;AK315212;AL109923;AL356299;AL705688;AMYH01011862;AMYH01011863;BC006848;BC011571;CH471077;DC307047;NG_023206;NM_001257137;NM_001257138;NM_031483 AAC04845;AAH06848;AAH11571;AAK39399;BAB39389;BAD92984;BAG37647;BAG60147;BAG64996;EAW76272;EAW76273;EAW76274;EAW76275;EAW76276;EAW76277;EAW76278;NP_001244066;NP_001244067;NP_113671;Q96J02 Hs.632272 1653886;1690268;1693422;2128236;2128698;2217496 A007H06;AL034523;D20S498;ITCH_3687;RH67935;Z94419 AIF4;AIP4;NAPP1;dJ468O1.1 E3 ubiquitin-protein ligase Itchy homolog;NFE2-associated polypeptide 1;OTTHUMP00000030688;OTTHUMP00000030689;atrophin-1 interacting protein 4;atrophin-1-interacting protein 4;dJ468O1.1 (atrophin 1 interacting protein 4 (AIP4));itchy E3 ubiquitin protein ligase homolog;itchy homolog E3 ubiquitin protein ligase;ubiquitin protein ligase ITCH APPROVED protein-coding ENSG00000078747 13890 606409;613385 REVIEWED 735534 ITFG1 integrin alpha FG-GAP repeat containing 1 16 16 16 q12.1 31697397 32002959 - 45746798 46052519 - 47189297 47495018 - 6480464 17384681;15489334;14702039;12598909;12477932;20379614;21900206;21906983 81533 F5GXC5;H3BQ64;H3BUJ1;I3L1X7;Q8TB96 ABBA01013751;ABBA01013752;ABBA01013753;ABBA01013754;ABBA01013755;ABBA01013756;AC007494;AC007533;AC007599;AF212247;AF503339;AK027596;AK295228;AK299641;AK301908;AK309475;AL833705;AMYH01007645;BC006321;BC024162;CH471092;NM_030790 AAG41782;AAH06321;AAH24162;AAN31655;ABM84440;ABM87492;BAB55220;BAG58221;BAG61564;BAG63334;EAW82698;EAW82699;NP_110417;Q8TB96 Hs.42217 1339376;1678771;1679285;1679918;1680629;1687313;1690958;1717937;1738607;1738765;2151905;2220262;5124525 AB062962;D16S2754;D16S2850;D16S3044;RH122795;RH25769;RH44367;RH45443;RH65004;RH66125;RH68894;RH69896;RH94268 CDA08;TIP 2310047C21Rik;OTTHUMP00000164135;T cell immunomodulatory protein;T-cell immunomodulatory protein;hypothetical protein cda08;integrin-alpha FG-GAP repeat-containing protein 1 protein-coding 30697 16692 611803 PROVISIONAL 1323311 ITGA11 integrin, alpha 11 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008] 15 15 q23 66381096 66511546 - 68594042 68724492 - 1358329;1580863;6480464;6907045;5135538 12297042;17543136 19913614;10464311;10486209;19390575;18990704;18519826;17600088;16697656;15146197;14702039;12496264;12392762;11518510;18839057;19641149;19789190;20379614;21796158;21565611;23377640;23382691;22869616 22801 B3KTN6;J3KQM2;Q9UKX5 ABBA01038781;ABBA01038782;ABBA01038783;ABBA01038784;ABBA01038785;AC021553;AC100825;AF109681;AF111799;AF137378;AK095863;AK292445;AK304778;AL359064;AMYH01006736;AMYH01006737;AMYH01006738;BX496541;CH471082;CN358985;NM_001004439 AAD51919;AAF01258;AAI67840;AAL39001;BAF85134;BAG53148;BAG65532;CAB94392;EAW77820;EAW77821;NP_001004439;Q9UKX5 Hs.436416 1336528;1698662;1711200;1718323;1758215;1759533;1853702;2110467;2127182;5128177 D15S983;ITGA11_2690;RH102890;RH122933;SHGC-142055;SHGC-147691;SHGC-150911;SHGC-57393;SHGC-85354;STS-H15811 HsT18964 integrin alpha-11 APPROVED protein-coding ENSG00000137809 6136 05310 604789 REVIEWED 1605407 IST1 increased sodium tolerance 1 homolog (yeast) This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 16 16 q22.2 70486947 70520407 + 71928311 71964542 + 16713569;10942595;19129480;19129479;19001599;18951430;16189514;15592455;15489334;14702039;12761501;12477932;8724849;19477918;21439932;20849418;20719964;19525971;17207965;21674799;22863883;22939629;16344560;19001597;21706489;22340600;21616915;21139048;21890473;21906983;19738201;21963094;22623428;23000965;23609236;22505724 9798 B4DXC9;E9PF00;F5GXM3;H3BMU1;H3BPP6;H3BQ38;H3BQF7;H3BUI0;J3KR23;J3QLU7;J3QQP8;P53990 AB097052;ABBA01016791;ABBA01016792;AC009127;AK057902;AK291388;AK293022;AK293040;AK295066;AK297088;AK297336;AK301918;AL355695;AMYH01007794;BC000116;BC000430;BC004359;BC038350;BC103745;BX364250;CH471166;CQ834562;CQ834564;CQ834566;D79996;DA332434;DA698420;NM_001270975;NM_001270976;NM_001270977;NM_001270978;NM_001270979;NM_014761 AAH00116;AAH00430;AAH04359;AAI03746;ADQ32167;BAA11491;BAC77405;BAF84077;BAF85711;BAF85729;BAG58114;BAG59603;BAG59792;BAG63341;CAH05496;CAH05497;CAH05498;EAW59205;EAW59206;EAW59207;EAW59208;EAW59209;NP_001257904;NP_001257905;NP_001257906;NP_001257907;NP_001257908;NP_055576;P53990 Hs.232194 1648169;1676085;1739903;2119044;2164203;5113878;5117172 D16S2946;D19S846;GDB:451592;NIB727;RH25390;RH91143;SHGC-60641 KIAA0174;MGC117220;OLC1 IST1 homolog;OTTHUMP00000174931;OTTHUMP00000174932;OTTHUMP00000238707;OTTHUMP00000238709;hIST1;increased sodium tolerance-1;overexpressed in lung cancer 1;putative MAPK-activating protein PM28 APPROVED protein-coding 28977 13784 REVIEWED 69006 ITGA1 integrin, alpha 1 This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008] 5 5 q11.2 52119893 52285242 + 52084136 52249485 + 1302875;729264;2302120;2302133;2302389;2302139;6480464;6907045;5135538 10536667;2380249;9408292;15976328;14984413;15836982;17543136 22002573;8428973;18587047;18454440;18269595;18081024;18048918;17982677;17931993;17891451;17669516;17603494;17312461;16472776;16412752;16335952;16043429;15679046;15592458;15485856;15372022;15132990;15109703;12694973;14660600;12734939;12662928;12482545;12477932;12078857;12042322;11937138;11877061;11572855;11454259;11336656;11307375;10714390;10713152;10684262;10666376;10595787;10457223;10455165;10196235;10094488;9699516;9688542;9154536;9139675;8898357;8814241;8717325;8557756;8387021;7897185;7806264;7493648;3033641;2341567;2229189;2169872;2144294;2099238;1827128;1807406;1429908;16008586;3546305;1693624;1690718;20436081;14627618;16754661;18377961;18647959;18813796;19730683;19780039;19850917;20232313;20531279;19913121;20628086;21521694;21647271;19397781;21965670;21946350;22001757;22020760;22030389;22298882;22698912;12883474;23284291;23419831;23284937;23070086;21947080;22847004 3672 P56199 ABBA01015716;ABBA01015717;AC022133;AC025180;AC026230;AC027326;AK300423;AMYH01015078;BC050277;BC137121;BC137122;JA738697;NM_181501;X68742 AAI37122;AAI37123;BAG62150;CCF77001;NP_852478;P56199 Hs.644352 1663232;1664792;1713001;1718721;1724255;1735570;1790169;1794248;1797756;2125775;2139240;2178594 D5S1686E;ITGA1_2521;L28297;L28346;PMC310876P1;Pelo;RH120591;RH121270;RH123048;SHGC-32850;SHGC-53304;WI-17921 CD49a;VLA1 CD49 antigen-like family member A;OTTHUMP00000161814;VLA-1;integrin alpha 1;integrin alpha-1;laminin and collagen receptor;very late activation protein 1 APPROVED protein-coding 6134 01892 192968 REVIEWED 1313014 ITGA10 integrin, alpha 10 Integrins are integral membrane proteins composed of an alpha chain and a beta chain, and are known to participate in cell adhesion as well as cell-surface mediated signalling. The I-domain containing alpha 10 combines with the integrin beta 1 chain (ITGB1) to form a novel collagen type II-binding integrin expressed in cartilage tissue. [provided by RefSeq, Jul 2008] 1 1 1 q21 119728358 119747240 + 144236347 144255225 + 145524990 145543868 + 1358329;1580863;6480464;6907045;5135538 12297042;17543136 9685391;16684505;12975309;12477932;11731273;10702680;9822998;9359872;15713743 8515 B2RTV5;F5GY13;O75578 ABBA01005742;AC243547;AF074015;AF112345;AF172723;AK304155;AK304183;AK314255;AL160282;AMYH01001373;AY358325;BC140831;BC144637;CH471244;NM_003637 AAC31952;AAF21944;AAF61638;AAI40832;AAI44638;AAI60008;AAQ88691;BAG36921;BAG65044;BAG65063;EAW71424;EAW71425;NP_003628;O75578 Hs.158237 1338762;1661719;1770952;1795210;5020948 D1S2344;G35510;PEX11B_1032;SHGC-75410;WI-18366 PRO827 OTTHUMP00000015588;integrin alpha-10 APPROVED protein-coding ENSG00000143127 6135 04952 604042 REVIEWED 1345598 ITFG3 integrin alpha FG-GAP repeat containing 3 16 16 16 p13.3 483684 516021 + 224833 256120 + 284801 316119 + 6480464 16381901;15489336;15489334;15146197;14702039;12477932;11230166;11157797;11076863;9054936;19862010;20379614;21963094;23000965;23446634;17342744;21906983 83986 B4DGG1;C9IYB9;C9J1M4;C9J3Y6;C9J8V3;C9JJN3;C9JP72;C9JR71;C9JTF7;C9K0C5;H7C2U8;H7C3L6;Q9H0X4 ABBA01030381;ABBA01030382;ABBA01030383;AC004754;AE006462;AK057165;AK294581;AK310766;AL136542;AMYH01006987;BC009214;BC010521;BC013047;BC032112;CH471112;CN262982;NM_032039 AAH10521;AAH13047;AAH32112;AAK61219;AAK61220;BAB71374;BAG57772;CAB66477;CAL38523;EAW85844;EAW85845;EAW85846;EAW85847;EAW85848;EAW85849;NP_114428;Q9H0X4 Hs.513225 1708256;1739875;1801376;1801378;1802122;1802186;1802544;1803458;1808020;1808736;1810122;1810922;1811228;1816548;1826164;1827044;1831928;1836408;1837304;1840006;1840790;1841196;1844034;2048096;2048098;2048100;2048102;2048104;2048106;2048108;2048110;2048112;2048114;2048116;2048118;2048120;2048122;2048124;2048126;2048128;2048130;2048132;2048134;2048136;2048138;2048140;2048142;2048144;2048146;2048148;2048150;2048152;2048154;2048156;2048158;2048160;2048162;2048164;2048166;2048168;2048170;2048172;2048174;2048176;2048178;2048180;2048182;2048184;2048186;2048188;2048190;2048192;2048194;2048196;2048198;2048200;2048202;2048204;2048206;2048208;2048210;2048212;2048214;2048216;2048218;2048220;2048222;2048224;2048226;2048228;2048230;2048232;2048234;2048236;2048238;2048240;2048242;2048244;2048246;2048248;2048250;2048252;2048254;2048256;2048258;2048260;2048262;2048264;2048266;2048268;2048270;2048272;2048274;2048276;2048278;2048280;2048282;2048284;2048286;2048288;2048290;2048292;2048294;2048296;2048298;2048300;2048302;2048304;2048306;2048308;2048310;2048312;2048314;2048316;2048318;2048320;2048322;2048324;2048326;2048328;2048330;2048332;2048334;2048336;2048338;2048340;2048342;2048344;2048346;2048348;2048350;2104528;2104530;2104532;2104534;2104536;2104538;2104540;2104542;2104544;2104546;2104548;2104550;2104552;2104554;2104556;2104558;2104560;2104562;2104564;2183243 D16S3006;ECD01561;ECD01562;ECD01943;ECD01976;ECD02159;ECD02626;ECD04988;ECD05350;ECD06053;ECD06459;ECD06612;ECD09316;ECD14192;ECD14637;ECD17102;ECD19366;ECD19819;ECD21187;ECD21586;ECD21793;ECD23230;REN95185;REN95186;REN95187;REN95188;REN95189;REN95190;REN95191;REN95192;REN95193;REN95194;REN95195;REN95196;REN95197;REN95198;REN95199;REN95200;REN95201;REN95202;REN95203;REN95204;REN95205;REN95206;REN95207;REN95208;REN95209;REN95210;REN95211;REN95212;REN95213;REN95214;REN95215;REN95216;REN95217;REN95218;REN95219;REN95220;REN95221;REN95222;REN95223;REN95224;REN95225;REN95226;REN95227;REN95228;REN95229;REN95230;REN95231;REN95232;REN95233;REN95234;REN95235;REN95236;REN95237;REN95238;REN95239;REN95240;REN95241;REN95242;REN95243;REN95244;REN95245;REN95246;REN95247;REN95248;REN95249;REN95250;REN95251;REN95252;REN95253;REN95254;REN95255;REN95256;REN95257;REN95258;REN95259;REN95260;REN95261;REN95262;REN95263;REN95264;REN95265;REN95266;REN95267;REN95268;REN95269;REN95270;REN95271;REN95272;REN95273;REN95274;REN95275;REN95276;REN95277;REN95278;REN95279;REN95280;REN95281;REN95282;REN95283;REN95284;REN95285;REN95286;REN95287;REN95288;REN95289;REN95290;REN95291;REN95292;REN95293;REN95294;REN95295;REN95296;REN95297;REN95298;REN95299;REN95300;REN95301;REN95302;REN95303;REN95304;REN95305;REN95306;REN95307;REN95308;REN95309;REN95310;REN95311;REN95312;RH11805;SHGC-79391;stSG608966;stSG608969;stSG608971;stSG608972;stSG608973;stSG608975;stSG608976;stSG608977;stSG608978;stSG608979;stSG608980;stSG608981;stSG608982;stSG608983;stSG608984;stSG608985;stSG608986;stSG608987;stSG608988 C16orf9;DKFZp761D0211;FLJ32603;gs19 OTTHUMP00000067159;OTTHUMP00000067160;OTTHUMP00000067161;chromosome 16 open reading frame 9;protein ITFG3 protein-coding ENSG00000167930 14163 12677 VALIDATED 1349627 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008] 17 17 q21.32 39805076 39822399 - 42449550 42466873 - 1580863;2316362;2316360;2316358;2316361;6480464;6484113;6907045;7240710;5135538 11493456;15280099;15678115;11705748;17543136 11606749;2439501;10429193;3607284;10605720;19570064;19562259;19329429;19286442;19279667;19262211;19172520;19132198;19117493;19082798;18990338;18989530;18979363;18979362;18976939;18826388;18796633;18791937;18646302;18641368;18638089;18573917;18502778;18433460;18405917;18399841;18396070;18383324;18334487;18331836;18328539;18317590;18316775;18316480;18237139;18211801;18201749;18174155;18088350;18064323;18057877;18041653;17954176;17922435;17872456;17767046;17763154;17728329;17721619;17714854;17644514;17635696;17630485;17615290;17561290;17538005;17495265;17488698;17468108;17414216;12408998;12399140;12393463;12388784;12297512;12200372;12181054;12140290;12083483;12071877;12049640;12042322;12038797;12031826;12023286;11994301;11964172;11918133;11858493;11812775;11798398;11776052;11728949;11719362;11698306;11583324;11575217;11487023;11467947;11460491;11367863;11359786;11341496;11260064;11260063;11204574;10772239;10607701;10391209;10212286;9920835;9809974;9809890;9789327;9763559;9736129;9734640;9722314;9473221;9288464;9215749;9030514;8704171;8663236;8631894;8620874;8612741;8400294;8282784;8132607;7878622;7706461;7688323;7559457;7520045;7508443;3801670;3534886;3479442;3422188;2845986;2775232;2476117;2444974;2351656;2350579;2345548;2322558;1953640;1737795;1702098;1639797;1429573;1375923;11238109;15075326;17332246;17320454;17160992;17138951;17032655;17018384;16923192;16905953;16895913;16879224;16879215;16877710;16825200;16822941;16806233;16773503;16716076;16636497;16582881;16573563;16487966;16469512;16359515;16357324;16335952;16324093;16322781;16248996;16228296;16115959;16102042;16051597;15978110;15976180;15917997;15890274;15886807;15863506;15847651;15842360;15748238;15730528;15701721;15701653;15678278;15634267;15630502;15355503;15316595;15227729;15226180;15219201;15205468;15166241;15134555;15131115;15121870;15099289;15067009;15056669;14675395;14671618;14597981;14525764;14521607;12938014;12911597;12871600;12871468;12871379;12871362;12860973;12827240;12799374;12736272;12730600;12724616;12719784;12668663;12637342;12609844;12586134;12511588;12506038;12477932;12446192;12426312;12424194;17346829;17337041;12411794;19734576;22190468;22456341;22513797;20158572;20584077;20723174;20230421;20819594;21071690;20486118;14681217;14985176;16005629;16546176;16581250;16933105;19170775;19232685;19527732;19691478;19702628;19765213;19804783;19805198;19863457;19884334;19888429;19903699;19948007;19996122;20075254;2010551;20149160;20308600;20363746;8467233;19729601;21029361;20828133;19778317;20002543;20020534;9351824;22457811;22730538;20153702;20514618;20615878;20652946;19913121;20628086;20667040;21190668;17192395;21156831;21388953;15379538;21454453;22855295;22531012;21529934;21645497;21487445;21832081;21917754;21966982;22015616;22136613;22308022;22448399;22461623;22268819;22613710;22015659;22078565;22102273;22484027;23022222;23082158;23243278;23197154;22880801;22738334;22139419;23580774;23519467;22952660 3674 B7Z8B0;K7EKA6;K7EP83;P08514 AB209552;ABBA01028373;AC003043;AC007722;AF098114;AK297155;AK303081;AK315335;AMYH01008419;BC117443;BC126442;BE409167;BM148153;CH471178;DQ841705;J02764;M18085;M22568;M22569;M33320;M34344;M34480;M54799;NG_008331;NM_000419;X06831 AAA35926;AAA52587;AAA52588;AAA52597;AAA52598;AAA52599;AAA53150;AAA60114;AAC98507;AAI17444;AAI26443;ABI15196;BAD92789;BAG37735;BAG59654;BAH13896;CAA29987;EAW51594;EAW51595;EAW51596;EAW51597;NP_000410;P08514 Hs.411312 1741203;1741373;2151159 D17S2050;GDB:178576;GDB:180940 BDPLT16;BDPLT2;CD41;CD41B;GP2B;GPIIb;GT;GTA;HPA3 GPalpha IIb;integrin alpha-IIb;integrin, alpha 2b (platelet glycoprotein iib of iib/iiia complex, antigen cd41b);platelet fibrinogen receptor, alpha subunit;platelet membrane glycoprotein IIb;platelet-specific antigen BAK APPROVED protein-coding ENSG00000005961 6138 06377 187800;273800;607759 REVIEWED 736147 ITGA8 integrin, alpha 8 10 10 p13 15599094 15801776 - 15559088 15761770 - 1580863;633055;2302241;6480464;6907045;5135538 10504498;17303177;17543136 7768999;19342381;18277079;15592496;15579315;15164054;12787402;12415008;12060755;11668187;11470831;10742111;7559467;16385451;19197348;19527220;19915575;7541634;9614184;20678483;20942236;23153507;21906983;23142384 8516 P53708 ABBA01034582;ABBA01034583;AK297740;AK308240;AL359645;AL590636;AMYH01002059;AY371697;CH471072;EF444991;L36531;NM_003638 AAA93514;AAI48353;AAQ56848;ACA06009;BAG60090;EAW86235;NP_003629;P53708 Hs.171311 1335191;1664912;1706514;1736040;1759447;1764269;2129505;2163004 AFMA191WH5;CHLC.GGAT21B04;D10S1312E;D10S1653;RH48069;SHGC-147889;SHGC-150836;SHGC-81229 OTTHUMP00000019207;integrin alpha 8;integrin alpha-8 protein-coding 6144 10361 604063 PROVISIONAL 1348031 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, nor undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain or beta 7 chain. [provided by RefSeq, Jul 2008] 2 2 q31.3 182029864 182110719 + 182321619 182402474 + 1580863;6480464;6907045;5135538 17543136 22002573;22159714;14681217;1715889;19579970;19542447;19454674;19353432;19345424;19318232;19259978;19074885;19064666;19011162;19000758;18941119;18850009;18846500;18697840;18697202;18641015;18635536;18632734;18628406;18614994;18549800;18519809;18501656;18448868;18390735;18351655;18348195;18326820;18292781;17964871;17959854;17689671;17609118;17597073;17530710;17472576;17352405;17274987;17150024;17015707;16920711;16818733;16365170;16249234;16227616;16158049;16002725;16001979;15990174;15987366;15872091;15749880;15731179;15572366;15448154;15308572;15292185;15263094;15257952;15226304;15166232;15090462;15070678;15051489;14699013;14666169;14657342;14645084;14623330;14525968;12904899;12844491;12837751;12794117;12694973;12686501;12659685;12477932;12218055;12171996;12163503;12097820;12054567;11966761;11929789;11929779;11877275;11777963;11533025;10604475;9789327;9488735;9086434;8643114;8611173;8440915;7587632;3033641;2788572;2034655;1824634;1730718;1551405;1537388;9263011;10852818;9765275;11919182;10229664;11083865;11435317;10702270;9873398;11724793;8757325;9541595;12682249;11010812;9117345;3546305;1693624;1373725;21296888;21430257;21738478;12234367;15622747;17369818;19460753;19604093;19655168;19748482;19815047;20007695;20097761;20190752;20379614;20388801;9079671;9547293;20357260;21037509;19913121;19933330;20628086;21075690;20970478;21114537;22711564;21224395;23083349;23553626;21705617;23125415;21093051;21876768;21298552;21703981;21906983;21976114;21980133;22472442;22822002;19738201;23314186;23116545;18264102;19795986;19864932;21284901;21383973;21417760;21912696;21926353;22190034;22505724;22623428;22644786;22691367;22908191;23243277;12519789 3676 AAB25486;E7EP60;P13612;Q7Z4L6 AB208885;ABBA01062287;ABBA01062288;AC020595;AJ504733;AJ508356;AJ510246;AJ510247;AJ510248;AJ510249;AK303220;AK303478;AK310610;AK311738;AMYH01011314;BC016671;BC055419;BC080190;CH471058;L12002;NM_000885;X16983 AAB25486;AAB59613;AAH16671;AAH55419;AAH80190;AAI46278;AAI56713;BAD92122;BAG64307;BAG64514;CAA34852;CAD43289;CAD48165;CAD53326;CAD53327;CAD53328;CAD53329;EAX10985;EAX10986;EAX10987;NP_000876;P13612 Hs.440955 1695762;1696544;1739009;1796136;1848962;2116845;2146130;2153307;2178838;5022759 D2S1872;D2S2637;G35017;ITGA4;ITGA4_1403;RH18091;RH47596;RH68735;SHGC-78143;SHGC-78758 CD49D;IA4;MGC90518 269C wild type;CD49 antigen-like family member D;OTTHUMP00000205320;VLA-4 subunit alpha;antigen CD49D, alpha-4 subunit of VLA-4 receptor;integrin alpha 4;integrin alpha-4;integrin alpha-4 subunit;integrin alpha-IV;very late activation protein 4 receptor, alpha 4 subunit APPROVED protein-coding 6140 01894 192975 REVIEWED 731429 ITGA6 integrin, alpha 6 The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q31.1 173000560 173079427 + 173292314 173371181 + 1358329;1600016;1302259;1580863;6480464;6907045;7240710;5135538 12297042;9185503;13130099;17543136 19491258;19138983;19124484;19107504;18974120;18971471;18958175;18687805;18831072;18614994;18550570;18451146;18436868;18270579;18818395;18155160;17979890;17935134;17652716;17475774;17332515;17303120;17085437;16973601;16965770;16940506;16870608;16732726;16571677;16537545;16504015;16436605;16424229;16344560;16339173;16263699;16258729;16228294;15983209;15897878;15885076;15679046;15579904;15557282;15361064;15302884;15194479;15161909;14707725;14607975;14602071;14517202;12931024;12919677;12909644;12826661;12791251;12499048;12477932;12429829;12397374;12364323;12105188;12033289;11988844;11959811;11884516;11861761;11852236;11809527;11739652;11728829;11684709;11479315;11389095;11359780;11251584;11238109;10811835;10713718;10711425;10671376;10657249;10525545;10477615;10094488;9660880;9500991;9425259;9360996;9360995;9158140;8838570;8757325;8496190;8360143;8253814;8163531;7681434;7629079;7583007;7556090;2649503;2542022;2070796;1976638;1946438;1476731;2138612;1693624;2967289;1690718;21969027;22311737;22389315;21182210;21195710;20855525;10637308;12482924;12802069;16581764;16757171;18814027;18842099;19130304;19242489;19579970;19586553;19767753;19775453;19808905;20432448;20441998;20508204;19827952;20452317;20878950;20695903;19364818;21115897;20485444;20564319;20628624;20301336;17192395;20927591;21518455;22328509;21558389;21359644;21799154;21388972;21474814;21832049;21752283;22493440;23071686;22592262;15840729;21139048;21906983;21987572;22049212;22396498;22295105;22514625;12883474;23106339;17170699;23071680;23070965;23499737;22843693 3655 C9JXX7;H7BZ97;Q14646 AB208842;ABBA01020741;AC078883;AF166343;AK294436;AK296496;AK307777;AK311695;AMYH01011270;BC007002;BC050585;BC136455;BC136456;BX537483;CH471058;DA760250;DQ858220;JA738587;JA738589;NG_008853;NM_000210;NM_001079818;S52135;S66196;S66213;X53586;X59512 AAB20354;AAB20355;AAB24829;AAD48469;AAH50585;AAI36456;AAI36457;AAX93133;ABH11650;BAD92079;BAG57680;BAG59130;CAA37655;CAA42099;CCF76946;CCF76947;EAX11175;EAX11176;EAX11177;NP_000201;NP_001073286;P23229 Hs.133397 1649202;1688638;1710762;1725593;1772024;2145442;2187339 G13288;G62018;RH48692;RH69051;RH98245;SHGC-12676;SHGC-84040 CD49f;DKFZp686J01244;FLJ18737;ITGA6B;VLA-6 CD49 antigen-like family member F;OTTHUMP00000163117;OTTHUMP00000205045;OTTHUMP00000205046;OTTHUMP00000205048;OTTHUMP00000205049;integrin alpha-6;integrin alpha6B APPROVED protein-coding ENSG00000091409 6142 00945 147556;226730 REVIEWED 1348738 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 5 5 q11.2 52320913 52426366 + 52285156 52390609 + 1581029;1582296;1582298;1582305;1582294;1582302;1582299;1582295;1582297;1582303;1582304;1582306;1582300;1582301;1580863;2307419;2307425;2307420;2307422;2307421;2307423;2307424;6480464;6484113;6907045;7240710;5135538 10194421;16697311;14563646;10822074;15227729;16525573;12871362;16380674;14687991;15104219;11978651;9684730;12412731;16157382;12540964;15025679;8989742;19146775;19321657;18567821;17466965;17543136 9391074;14681217;2933589;10201960;10942362;2545729;10778855;1763388;19530321;19479237;19451223;19420105;19388931;19350519;19336370;19263529;19204726;19202951;19132198;19131662;19110485;19082798;19008959;18990704;18983487;18974842;18936436;18836731;18830231;18826391;18820259;18806884;18638089;18613064;18608122;18587047;18554474;18513389;18502778;18491034;18448666;18417478;18413316;18362184;18231737;18057877;18026855;17890945;17855352;17728329;17669516;17638891;17630485;17598123;17538005;17534386;17498594;17495265;17408410;17346829;17331499;17312461;17264949;17196570;17184645;17179151;17164499;17160992;17157856;17127487;17092301;17070428;17036337;17023078;17003923;16972245;16908762;16905953;16882656;16875034;16828471;16820192;16732726;16634766;16622460;16573563;16513317;16421008;16390868;16357324;16344560;16341674;16317580;16304451;16263699;16214444;16140647;16113793;16055706;16043429;15978110;15978109;15947241;15892865;15847651;15777792;15730528;15699160;15647274;15630502;15546585;15522237;15514009;15355504;15355503;15350465;15342556;15304053;15292257;15265786;15240572;15205592;15146197;15132990;14746139;14701832;14679206;14671618;14556196;13679375;12928694;12915563;12871600;12791669;12788934;12724616;12717361;12690916;12681287;12657625;12615788;12544734;12529399;12499711;12486862;12482545;12392763;12372459;12208476;12181354;12082592;12082590;12073410;12071877;12070018;12042322;12038776;11958806;11856343;11835340;11812069;11809527;11776052;11775028;11728949;11698306;11572092;11568114;11555674;11472360;11395045;11359786;11359774;11323022;11307375;11246537;11238113;11169447;11030148;10944199;10918561;10744142;10737800;10666376;10465258;10397731;10381815;10339462;9461325;9402003;9353312;9281592;9223755;9211352;9198193;8889548;8387021;8276836;7994488;7916494;7901236;7861330;7545357;7503723;3546305;2156854;1693624;1690718;10094488;10741407;9813091;9812906;9789327;9746778;9731077;9688542;9676575;9632739;9509387;21508388;22590584;19235843;21134100;21558389;20806289;11877061;12477932;16754661;16754960;18787945;19395705;19411307;19422573;19500323;19549780;19559392;19570064;19578796;19587357;19622836;19635510;19700757;19702628;19724904;19729601;19740098;19789264;19789387;19927126;19948007;19995941;20048261;20063990;20076847;20149160;20178602;20201926;20204402;20336352;20453000;7639691;9645947;19827952;20351310;20436081;19778317;15147720;22298882;22418441;22457358;21135504;21034162;19913121;20485444;20532885;20536507;20598296;20628086;20667040;20691446;20492470;21658756;23161041;21193198;21262375;21596751;20939067;21645227;22160595;22948415;23132859;23204528;22939629;21652699;21672359;21474814;21647271;21734795;21370991;21850018;21796158;21743959;22354032;16762342;21139048;21787362;21906983;22133774;22634764;21632096;22015659;22049795;21765051;21126803;15174051;17170699;21963094;22304920;23249684;23242739;23116973;23284937;21947080;23070086 3673 D6R9H3;D6RG08;E7EMF1;E7ESP4;E9PB77;P17301 ABBA01015717;ABBA01015718;AC008966;AF035968;AF062039;AF512556;AK307952;AMYH01015078;AMYH01015079;AU126174;BC143505;BC143508;BC143509;BC143511;BC143512;BE048389;BF355124;BG288116;BG494837;BG771368;BM828183;BM979113;BP280760;BP381403;CA442768;CH471123;CK904145;CN272390;DA343078;DA545055;JA738693;L24121;NG_008330;NM_002203;NR_073103;NR_073104;NR_073105;NR_073106;NR_073107;S72155;X17033 AAA16619;AAC94975;AAD14096;AAF77577;AAI48597;AAI56716;AAM34795;CAA34894;CCF76999;EAW54872;EAW54873;NP_002194;P17301 Hs.482077 1298276;1646471;1647515;1678975;1690738;1755241;1768517;2112200;5020242;7185423;7186711 D11S2612;D5S2427;D5S2773;D5S623;RH66001;RH75317;SGC32937;SHGC-142139;SHGC-14947 BDPLT9;BR;CD49B;GPIa;HPA-5;VLA-2;VLAA2 CD49 antigen-like family member B;OTTHUMP00000161816;OTTHUMP00000221525;OTTHUMP00000221526;VLA-2 subunit alpha;VLA2 receptor, alpha-2 subunit;collagen receptor;human platelet alloantigen system 5;integrin alpha 2;integrin alpha-2;platelet antigen Br;platelet glycoprotein GPIa;platelet glycoprotein Ia;platelet membrane glycoprotein Ia;very late activation protein 2 receptor, alpha-2 subunit APPROVED protein-coding ENSG00000164171 6137 01893 192974;614200 REVIEWED 1321177 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) The protein encoded by this gene belongs to the family of integrins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain, and function as cell surface adhesion molecules. This gene encodes alpha 3 subunit, which undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 subunit to form an integrin that interacts with many extracellular-matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 17 17 q21.33 45488730 45522843 + 48133340 48167849 + 1358329;1580863;2325818;2325829;2325666;2325851;2325287;2302139;2302389;6480464;6484113;6907045;5135538 12297042;20525748;1835909;19662603;15583703;19041328;15836982;14984413;17543136 14676841;1655803;19451223;19339270;19297475;19230171;19074885;18839319;18695939;18550570;18492066;18464290;18384059;18224668;17997226;17888902;17630833;17498594;17481915;17475774;17265493;16785564;16732726;16731529;16707493;16571677;16537545;16510444;16475024;16459165;16390868;16373174;16344560;16339173;16307893;16273094;16103120;16055706;15983209;15919367;15878864;15805105;15677332;15361064;15351855;15346842;15302884;15280429;15254262;15194015;15181153;15109703;15024036;14706682;14702039;14666169;14662754;14645603;14612440;14607975;14602071;14596610;12919677;12887919;12717361;12699087;12615788;12480921;12477932;12452046;12445830;12397374;12372459;11988844;11936878;11907260;11884516;11853674;11679509;11387256;11358957;11344212;11327697;11307375;11278628;11165569;10994995;10929059;10906324;10852818;10811835;10801807;10734060;10694273;10684262;10487289;10094488;10082751;10065872;9950675;9809676;9733622;9704023;9402008;9360996;9360995;9350325;9223324;9111516;8889548;8757325;8407358;8187758;8006073;7591201;7545357;7542504;6593709;3033641;1714443;12775419;12119179;3546305;1693624;1690718;21182210;21195710;20412552;10982388;11888933;11964076;16326706;1911778;19130304;19411307;19730683;19752234;19755493;19759146;20352300;19224172;16878156;20926544;20877569;20927591;23011394;23094960;21455571;21530503;22917688;21139048;21906983;21987572;22512483;17170699;22936677;23000965;23074279;22843693 3675 B4DDT0;D6R9X8;H0YA32;H0YA49;K7EMU3;K7EQJ2;P26006 AB209658;ABBA01041226;ABBA01041227;AC002401;AC009720;AK091950;AK092023;AK289961;AK293323;AK303384;AMYH01008470;BC015344;BC043917;BC136636;BC144328;BC150190;BM978115;CH471109;D01038;DA655978;M59911;NG_029107;NM_002204;NM_005501 AAA36120;AAH43917;AAI36637;AAI44329;AAI50191;BAA00845;BAD92895;BAF82650;BAG56841;BAG64440;EAW94645;EAW94646;EAW94647;EAW94648;NP_002195;NP_005492;P26006 Hs.265829 1659776;1659778;1796134;2121964;2148884;2175906;5015961;5020393;5037552 D15S1477;D8S2279;GDB:314047;ITGA3_168;STS-D29549;STS-H06518;STS-M59911;STS-R69448;WI-21975 CD49C;FLJ34631;FLJ34704;GAP-B3;GAPB3;ILNEB;MSK18;VCA-2;VL3A;VLA3a CD49 antigen-like family member C;FRP-2;OTTHUMP00000220803;VLA-3 subunit alpha;antigen identified by monoclonal antibody J143;galactoprotein B3;integrin alpha-3;very late activation protein 3 receptor, alpha-3 subunit APPROVED protein-coding ENSG00000005884 6139 05431 605025;614748 REVIEWED 731798 ITGAD integrin, alpha D 16 16 p11.2 31312134 31345327 + 31404633 31437826 + 1358329;1580863;6480464;5135538 12297042;17543136 9841932;15561714;14702039;12429998;10722744;10438935;9598326;8777714;8666289;19571252;19710015;21508205;21712539 3681 Q13349;Q59H14 AB208945;ABBA01042090;ABBA01042091;ABBA01042092;ABBA01042093;AC026471;AC093520;AF187881;AK097160;AK301028;AMYH01007507;AMYH01007508;CH471192;HC734518;NM_005353;U37028;U40274;U40275;U40276;U40277;U40279 AAB38547;AAB60634;AAB60635;AAB60636;AAB60637;AAB60638;AAF62875;AAI56096;BAC04967;BAD92182;BAH13393;CBL95066;EAW52139;NP_005344;Q13349 Hs.679163 1748763;5014740 D17S610;SHGC-110391 ADB2;CD11D;FLJ39841 CD11 antigen-like family member D;integrin alpha x;integrin alpha-D;leukointegrin alpha D protein-coding ENSG00000156886 6146 602453 VALIDATED 734343 ITGA7 integrin, alpha 7 The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009] 12 12 q13 54364619 54387894 - 56078352 56106089 - 1600024;1600025;1580863;70774;6480464;6907045;7240710;5135538 9590299;14988073;1315319;17543136 9354797;18029348;19416897;18940796;17641293;17618648;17551147;17054947;16344560;16289162;15340161;15117962;14702039;12975309;12941630;12477932;12057917;11884516;11361006;10910772;10906324;10694445;10459022;10403775;9570924;9473524;9402008;9352853;9307969;8626012;8253814;8126096;7607681;1839357;20651226;20453000;20460506;11054877;21890473;20301468;11278916 3679 G3V2C6;G3V2I4;G3V2Q6;G3V3L8;H0YJ26;H0YJ98;H0YJS5;H2N331;H7BYL2;J3KNV4;Q4LE35;Q9UEV2 AB210036;ABBA01008384;AC009779;AF032108;AF034833;AF052050;AF072132;AJ228836;AK022548;AK057949;AK304864;AMYH01004494;AY358882;BC050280;CH471054;DA096702;DA398527;NG_012343;NM_001144996;NM_001144997;NM_002206;X74295 AAB87696;AAC18968;AAC39708;AAC80458;AAH50280;AAQ89241;BAE06118;BAG51088;BAG65602;CAA52348;CAB41534;CAB41535;EAW96819;EAW96820;EAW96821;EAW96822;EAW96823;NP_001138468;NP_001138469;NP_002197;Q13683 Hs.524484 1644637;1720575;1855839;2153247 G59242;RH11299;STS-X74295;WI-16635 FLJ25220 OTTHUMP00000244243;OTTHUMP00000244244;OTTHUMP00000244245;OTTHUMP00000244246;OTTHUMP00000244278;integrin alpha 7;integrin alpha 7 chain;integrin alpha-7 APPROVED protein-coding ENSG00000135424 6143 02761 600536;613204 REVIEWED 1350525 ITGAW integrin, alpha W 3686 6151 1322518 ITGA9 integrin, alpha 9 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008] 3 3 p21.3 37468817 37836285 + 37493813 37861281 + 1358329;1580863;6480464;6907045;5135538 12297042;17543136 8245132;19494327;19403822;19346516;19140316;18973153;18794852;18230652;16430945;16005200;15590642;15479742;15247268;12477932;11882657;11598204;11462216;10593924;8381220;8290272;8798654;10209034;11773029;19478819;19608669;19686679;19796635;20159768;20379614;20414254;20479155;9565552;20362630;20412120;20435742;21071450;22976797;21341269;21465533;21975548;22359512;22545097;21764681;23139255;22370635 3680 E9PDS3;H7C2L1;Q13797;Q8N6H6 ABBA01024842;ABBA01024843;AC092055;AC093415;AK026826;AK123884;AMYH01013087;AMYH01013088;AP006240;BC030198;BX647350;CH471055;D25303;L24158;NG_016166;NM_002207 AAA16099;AAH30198;BAA04984;EAW64501;NP_002198;Q13797 Hs.113157 1647816;1651817;1651819;1676438;1713515;1759943;1759945;1773633;1787780;1847639;2107233;2135256;2139630;2169721;2173250;2176866;2177270;2182665;2183115;5092908 A002B04;A009C07;D3S3382;D3S3452;D3S3880;D3S4038;G19873;G32406;ITGA9_7239;NRU7-11A;RH120242;RH16569;RH47614;RH98242;SHGC-170004;SHGC-170005;SHGC-173155;SHGC-56499;SHGC-76831;WI-18716 ALPHA-RLC;ITGA4L;RLC OTTHUMP00000161385;integrin alpha-9;integrin alpha-RLC;integrin, alpha 4-like APPROVED protein-coding 6145 04910 603963 REVIEWED 1351478 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008] 12 12 q11-q13 53075312 53099317 - 54789045 54813050 - 1580863;2302389;2302139;6480464;6484113;6907045;5135538 14984413;15836982;17543136 21178109;21343398;19276077;19179533;19036703;18992284;18845630;18775869;18707587;18687805;18676743;18613064;18611961;18590706;18583538;18464290;18452157;18445685;18328539;18243286;17664272;17664256;17624082;17596295;17498594;17490870;17482311;17472576;17406357;17359518;17300927;17286276;17133443;17027088;17012251;16959765;16940508;16920931;16818733;16756721;16569642;16547007;16457822;16430945;16344560;16341674;16005200;15987366;15983209;15881415;15757908;15737747;15728256;15699160;15684035;15509657;15500293;15489334;15389531;15331608;15187087;15100006;15090462;15051489;14998999;14684825;14610084;14596610;12970173;12871973;12865438;12807887;12799374;12682293;12639965;12595495;12486108;12477932;12359771;12220988;12174366;12138201;12115183;12081894;12067900;12042322;11937138;11919189;11893752;11877275;11852236;11801679;11741954;11555674;11479315;11462216;11158588;11149921;10982404;10888683;10871287;10848623;10713718;10626908;10397733;10091938;10082751;10072872;10065872;9916748;9864377;9809676;9790314;9789327;9509387;9361020;9314546;9238676;9223324;9211865;8980606;8757349;8658014;8599839;8562338;8537347;8387021;8034133;7861330;7690138;7592829;7542116;22451694;2454952;14970227;18029348;19564406;19454674;19443705;19416892;19404550;19297531;7539135;7532190;7504269;3033641;15006356;2958481;2944883;2846588;2450560;2202737;1834647;1694173;1693626;10094488;1532572;8538749;15028619;12868002;11877390;3546305;1693624;1690718;20471683;20686611;20713621;20528248;20564209;10022831;10673366;15781448;16051604;18186923;19267251;19460753;19478484;19497979;19502598;19579970;19617714;19706683;19710103;19747169;19822142;19843692;19847290;19887442;19950288;20097172;20118200;20332114;20332668;20379614;20133364;20643357;20565758;20052536;20339539;20352103;20172014;20514406;20522645;22723286;22735632;21119363;21210968;21337395;21119598;21352421;22976495;22629380;21224397;21429937;21521694;21913024;22227038;21344385;21747167;21170718;21762625;19850743;21374738;21592318;22114305;22171266;22361176;22461623;22581054;12196561;21139048;21787362;21880737;21906983;22562249;22692860;23416109;22287577;22158781;19738201;21963094;21988832;22865233;23233531;21933023;12883474;22095620;23007402;23373994;22939629;22940691;21947080;21951552;22241990;22644786;22773839 3678 B4E3F4;H0YHL9;H0YIV7;P08648 ABBA01008372;AC079313;AK291570;AK304696;AK311051;AK312414;AMYH01004488;AU133210;AY429549;BC008786;BM787112;BX647780;CH471054;HI574152;M13918;NM_002205;X06256 AAA52467;AAH08786;ABM83616;ABW03523;BAF84259;BAG35324;BAG65466;CAA29601;CBX47565;EAW96780;EAW96781;EAW96782;NP_002196;P08648 Hs.505654 2129103;2181205 RH47986;STS-X06256 CD49e;FNRA;VLA5A CD49 antigen-like family member E;OTTHUMP00000242260;VLA-5;fibronectin receptor subunit alpha;fibronectin receptor, alpha subunit;integrin alpha-5;integrin alpha-F;very late activation protein 5, alpha subunit APPROVED protein-coding ENSG00000161638 6141 00627 135620 REVIEWED 1352170 ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p11.2 30391572 30442007 + 30483983 30534506 + 1580863;6480464;6907045;5135538 17543136 14722085;14695458;14688105;14676297;12855590;12847234;12845325;12815062;12694184;12616499;12516552;12477932;12392323;12368450;12207338;12202941;12171996;12163503;12163056;12139949;12117984;12036881;12020947;11953106;11929876;11882033;11867690;11812992;11792712;11786177;11353828;10493852;10493829;9789327;9743356;9676575;8995416;8805579;8099450;8097887;7691868;7576051;7542116;7479767;3301632;3284962;2894392;2537322;1762294;1702722;7917519;15183063;9341793;8450224;7904170;2543075;1967280;1757107;9263011;8086129;12526797;11279101;11544294;10602019;9442085;1448173;2477710;8103515;10477596;11857637;19268609;19050286;19029120;18922916;18339898;18199751;18195072;18156711;18079697;17913807;17785425;17673459;17591777;17486117;17468108;17430469;17078873;17045822;17038526;16963559;16920795;16918410;16855029;16705652;16622014;16505487;16492228;16472601;16301335;16249234;16207819;16100282;16038038;16037628;16002691;15983060;15958383;15946252;15851656;15834409;15730520;15728350;15693793;15611342;15356110;15308572;15240749;15208262;15113754;21597477;15622747;19135988;19502238;20338181;20403997;20574620;20445017;20511548;20953905;19913121;20628086;20516718;21270395;21152086;21192791;20681010;21206905;21669874;21576384;21705617;23418509;21454358;21540444;22467872;21541792;21890473;22411821;22206678;22384114;23188505;23160181;23514737;23128233;15222882;18264102;19211748;19641037;19721069;20890395;21284901;21850260;22190034;22908191 3683 B2RAL6;B4DQ77;B4E021;H3BNL5;H3BS37;H3BSV1;H3BUT3;I3L1D1;I3L468;P20701 ABBA01042029;ABBA01042030;ABBA01042031;ABBA01042032;ABBA01042033;ABBA01042034;AC002310;AC116348;AK298674;AK303190;AK314246;AMYH01007497;BC008777;CA430398;CH471192;DC324373;DQ131904;M95609;NM_001114380;NM_002209;Y00796;Z22804 AAA16474;AAC31672;AAH08777;AAZ38713;BAG36913;BAG60839;BAG64283;CAA68747;CAA80461;EAW52243;EAW52244;EAW52245;NP_001107852;NP_002200;P20701 Hs.174103 1682640;1740495;5022588;5124048;5491343 D16S1292;D5S1597E;Myln;RH48619;RH80563 CD11A;LFA-1;LFA1A CD11 antigen-like family member A;LFA-1 alpha;LFA-1A;antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide;integrin alpha-L;integrin gene promoter;leukocyte adhesion glycoprotein LFA-1 alpha chain;leukocyte function-associated molecule 1 alpha chain;lymphocyte function-associated antigen 1 APPROVED protein-coding ENSG00000005844 6148 01079 153370 REVIEWED 1346113 ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] 17 17 p13 3564668 3651286 - 3617919 3704537 - 1580863;6480464;6484113;5135538 17543136 8119947;19150377;19074885;19023099;18492951;18182176;17975119;17325197;16920912;16216886;16177076;15489334;15196058;14532999;12477932;12414996;12370249;11311556;10978890;10837471;10790430;10673275;9765275;9676575;8580465;8526015;7614974;3498635;1542691;12434297;21739671;16169070;18839057;19604725;20237496;20379614;20417566;20588308;20875079;21917686;21948982;22922816 3682 K7EQU0;P38570 ABBA01054743;ABBA01054744;ABBA01054745;ABBA01054746;ABBA01054747;AC116914;AF168787;AF289864;AMYH01008032;AMYH01008033;BC113436;BC117207;CD368046;CH471108;L25851;NM_002208 AAB59359;AAF43107;AAI13437;AAI17208;ADR83440;EAW90480;NP_002199;P38570 Hs.513867 1298294;1338144;1652134;1674085;1691232;1722269;1754051;2129715;2154412;2163207;5022004;5092472;5092474 A004X48;D17S1298;D17S919;D4Ulb4;G54303;G54304;G60045;RH47338;RH48947;SHGC-12572;SHGC-132092;WI-14867;WI-22591 CD103;HUMINAE;MGC141996 HML-1 antigen;antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide;integrin alpha-E;integrin alpha-IEL;mucosal lymphocyte 1 antigen APPROVED protein-coding ENSG00000083457 6147 05249 604682 REVIEWED 1352514 ITGB1P1 integrin beta 1 pseudogene 1 19 19 p 14625602 14626210 - 14732331 14734100 - 1979054;1979054 100422691 AC022149;NG_024150 1676176;1684892;1691054;1741585;1748473;1794814;2166920;2176972 D10S2354;D10S2370;GDB:181546;PMC59887P1;RH40308;RH47140;RH47472;SHGC-32719 FNRBL;ITGB1L APPROVED pseudo 3781 VALIDATED 1343608 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 16 16 p11.2 31178789 31251714 + 31271288 31344213 + 1580863;6480464;6907045;1342461;5135538;7207258;7207265;6907051;5147916;7240710 15145554;17543136;21900205;21063074;19752320;21719445 15485828;15454120;15304494;15294914;15277376;15217824;15073035;14769799;14751053;14532278;12960243;12847278;12816955;12760968;12731070;12694184;12665127;12600815;12576754;12516552;12495676;12485936;12477932;12466503;12444150;12393719;12393547;12390020;12377937;12377763;12244179;12234260;12208882;12165526;12145463;12107753;12042322;12036876;12009501;11967116;11953106;11941318;11937770;11893077;11881155;11843895;11701612;11073102;10946284;10899906;10846180;10748078;10744708;10352278;9844058;9712878;9687375;9569238;9560195;9558116;9488691;9211902;15004192;2563162;19587009;19387459;19286673;19250688;19246218;19135988;19129174;19110536;19086264;19073595;18941116;18842294;18762778;18714035;18685529;18684982;18678668;18676132;18644795;18617697;18541300;18509085;18496641;18495781;18414903;18375764;18204448;18204446;18204098;18164590;18156711;18096476;18065787;18029348;17957461;17927697;17721605;17445870;17372166;17346796;17228360;17202407;17202372;17172930;16915040;16782049;16614246;16508260;16389569;16357311;16260637;16249234;16239529;16037628;15976367;15778383;15741160;15730520;15718918;15641787;15615722;15585684;15489334;20706761;9142045;8747460;8573344;8458080;8419480;7867070;9175709;4062888;3539202;3284962;2833753;2457584;2454931;1683702;1346576;1967280;12682255;19800635;16246332;19052753;19480860;19546439;19550115;19578722;19747912;19748962;19811837;19833726;19863185;19939855;20185670;20190138;20228269;19572148;21135163;20483667;20580686;20826754;20824631;19165918;20848568;20881011;20962850;21068098;19913121;20628086;20629846;20666624;20665668;22586164;21408207;15194813;21263017;21454473;22251373;21151989;21403131;21252155;21874872;22229891;20423844;22722613;21676865;21362770;21551251;22053606;21273385;22052909;22893614;21571730;21610569;22095715;23184931;22145905;20800911;21840425;23269830;23479224;23514737;23273568;23092917;23334594;22017400;23452299;22552879 3684 H3BMV4;I3NI33;P11215 AA436312;ABBA01042087;ABBA01042088;ABBA01042089;AC093520;AK057856;AK127637;AMYH01007505;AMYH01007506;AMYH01007507;AY187247;AY187248;BC096346;BC096347;BC096348;BC099660;BM194233;CH471192;J03925;J04145;JA738583;M18044;M76724;M84477;NG_011719;NM_000632;NM_001145808;S52227 AAA51960;AAA58410;AAA59491;AAA59544;AAA59903;AAB24821;AAH96346;AAH96347;AAH96348;AAH99660;BAG54538;CCF76944;EAW52143;EAW52144;NP_000623;NP_001139280;P11215 Hs.172631 1338725;1684463;1741359 D16S753;GDB:180920;RH79892 CD11B;CR3A;MAC-1;MAC1A;MGC117044;MO1A;SLEB6 CD11 antigen-like family member B;CR-3 alpha chain;antigen CD11b (p170);cell surface glycoprotein MAC-1 subunit alpha;integrin alpha-M;integrin, alpha m (complement component receptor 3, alpha; also known as cd11b (p170), macrophage antigen alpha polypeptide);leukocyte adhesion receptor MO1;macrophage antigen alpha polypeptide;neutrophil adherence receptor alpha-M subunit APPROVED protein-coding ENSG00000169896 6149 00411 120980;609939 REVIEWED 1350069 ITGB1BP2 integrin beta 1 binding protein (melusin) 2 X X X q12-q13.1 70875506 70879082 + 70438353 70441929 + 70521628 70525204 + 1582491;1580863;6480464 12496958 10506186;12514714;12477932;11997396;9388239;15604093;20017903;23184943;23124043;21546274 26548 Q32N04;Q9UKP3 ABBA01067709;AF110225;AF140690;AL590762;AMYH01022534;BC108901;CH471132;NM_012278 AAF01676;AAI08902;AAL36913;EAX05296;EAX05297;NP_036410;Q9UKP3 Hs.109999 1658583;1702880;1769381;1788636;2108317;2119092;2219164 DXS1500;DXS7556;DXS9791;ITGB1BP2_2848;NONO_8509;RH18146;RH77996 CHORDC3;ITGB1BP;MELUSIN;MGC119214;MSTP015 OTTHUMP00000023501;integrin beta-1-binding protein 2 protein-coding ENSG00000147166 6154 02271 300332 PROVISIONAL 1348968 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. [provided by RefSeq, Jul 2008] 16 16 p11.2 31274010 31301819 + 31366509 31394318 + 1580863;6480464;6907045;5135538 17543136 2303426;3327687;19237023;18580071;18541300;18386786;18204098;18047418;17726260;17726152;17045822;16716806;16037628;15900581;15730520;15665082;15489334;14702039;12576324;12477932;12351396;12208882;12100475;12083416;11937543;11845978;11840270;11799095;11460493;11369639;11174197;9885225;9598326;9473377;9250811;9176697;8645576;8598231;8573344;8045597;7621072;7512600;3549901;3284962;1976870;1967280;4062888;19129174;22844116;20660331;19800635;20888334;19257981;19910635;20032971;20033057;20479115;20574620;21030716;20382884;20679211;20962850;20610651;21239711;21257965;21362770;21874872;21666055;22393018;21273385;22539788;22244783;22017400;22808111 3687 H3BN02;P20702;Q8TES5 ABBA01042090;AC093520;AK074047;AK293367;AK296666;AK309642;AMYH01007507;AW014280;BC037577;BC038237;BM149283;CA308944;CH471192;L19440;M29482;M29483;M29484;M29485;M29486;M29487;M81695;NG_011451;NM_000887 AAA35661;AAA51620;AAA59180;AAH38237;ABM83412;ABM86623;BAB84873;BAG56881;BAG59263;EAW52140;EAW52141;EAW52142;NP_000878;P20702 Hs.248472 1677638;1683563;1686150;1771590;1797760;2147171;5022578 D1S1423;ITGAX_2523;RH65242;RH69186;RH79906;SHGC-35326;SHGC-64124 CD11C;SLEB6 CD11 antigen-like family member C;OTTHUMP00000163299;integrin alpha-X;leu M5, alpha subunit;leukocyte adhesion glycoprotein p150,95 alpha chain;leukocyte adhesion receptor p150,95;leukocyte surface antigen p150,95, alpha subunit;myeloid membrane antigen, alpha subunit;p150 95 integrin alpha chain APPROVED protein-coding ENSG00000140678 6152 01051 151510 REVIEWED 1321618 ITGAV integrin, alpha V This gene encodes a protein that is a member of the integrin superfamily. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein undergoes post-translational cleavage to yield disulfide-linked heavy and light chains that combine with multiple integrin beta chains to form different integrins. This protein has been shown to heterodimerize with beta 1, beta 3, beta 5, beta 6, and beta 8; the heterodimer of alpha v and beta 3 is the Vitronectin receptor. This protein interacts with several extracellular matrix proteins to mediate cell adhesion and may play a role in cell migration. It is proposed that this protein may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013] 2 2 q31-q32 187163045 187253873 + 187454790 187545628 + 1358329;1582453;1582446;1582450;1582452;1582449;1582447;1582461;1625134;1582458;1580863;1627651;1627644;1627640;1627642;6480464;6484113;6907045;5135538 12297042;11997283;16809548;15007005;12063036;15750161;16102435;10664059;12639933;15287373;17596340;11848444;16784924;16380536;17543136 19164533;18349127;11877390;2430295;15215180;19590686;19475568;19371633;19334037;19255147;19212638;19212436;19141530;19118218;19088289;19074851;19061491;19037107;19017937;18927433;18854176;18844213;18821851;18814143;18781095;18698261;18695916;18694400;18648521;18635536;18550570;18549690;18451156;18445685;18441324;18427826;18394009;18364349;18353785;18353318;12893184;12875973;12874388;12807887;12765524;12754519;12750158;12695522;12691260;12682293;12660257;12645863;12642872;12639965;12553378;12486108;12477932;12427871;12399420;12384999;12372811;12372469;12370491;12364323;12358597;12356872;12324470;12324452;12270930;12237321;12237112;12210725;12198771;12196561;12193380;12177807;12168086;12161360;12143051;12082152;12042322;12031826;11988838;11970960;11959660;11953315;11934894;11927607;11884718;11882657;11872628;11858476;11821050;11741954;11724803;11706074;11683411;11577104;11546839;11435317;11331301;11287419;11278329;11162558;11134507;10965141;10871287;10837460;10835423;10821835;10749942;10715259;10549293;10545994;10537314;10438928;10397733;10037797;9916748;9813179;9789327;9686320;9626063;9517988;9256940;9251239;9133434;9108459;8757349;8599839;8294396;8034133;7690138;7689573;7682219;7678549;7545239;7539135;7522056;2478219;2467745;2454952;2450560;2443500;2202737;2138612;1918072;1694173;1690718;1532572;12083833;16166568;12459484;8798654;1693624;15700281;18345483;18331351;18310319;18247041;18211678;18191107;18090124;18084301;18079201;18064530;18062611;18045938;18029348;17879163;17854909;17641225;17621633;17615072;17550972;17483236;17446174;17408468;17369840;17331499;17300927;17275949;17175151;17158881;17034033;16973584;16877343;16835373;16818691;16790523;16731529;16702213;16675963;16672769;16631833;16631740;16614246;16496302;16448724;16407244;16400188;16385340;16186116;16150802;16105876;16100012;16099422;16024014;16005200;15998788;15921657;15914035;15897908;15866865;15834425;15828940;15815621;15795319;15695828;15647827;15638730;15609323;15557124;15509546;15489334;15361064;15299032;15269586;15194773;15051489;15044441;14966135;14766759;14741360;14666169;14596610;14524530;12917446;12902636;21178476;21182210;21150164;20158572;20638909;20400979;10640428;11997396;17925226;18221819;18310446;19267182;19435649;19448673;19487690;19541645;19549907;19581046;19617625;19695571;19704023;19710103;19751734;19808093;19808644;19815712;19818132;19837659;19882657;19888429;19888537;19889638;19910644;19998373;20019187;20306691;20379614;7505120;8120056;9443892;20857483;21098231;21135163;18357713;21037076;20121756;20558745;20033473;20477989;19811096;20715172;20826760;20838674;20719960;20926544;19913121;20026907;20519501;20554778;20600001;20615244;20628086;20628624;20626753;20837477;21352421;20945385;21321266;21321268;21427239;10218736;10570297;10708943;11866539;19578119;20037822;22879933;22939629;22975325;23106217;22719931;23028753;23161541;20224109;21283814;21116829;21530503;20942236;21425129;21590707;21752283;21344378;21764795;21646718;21677875;20972812;21375561;21712047;8538749;21987572;22094875;22110279;21853313;21957301;21978494;18395422;22308022;23181508;23227240;21139048;21787362;21890473;21906983;22174124;22566688;19738201;21963094;22710795;23000965;23204516;23283986;11928818;12099514;15925879;16947382;17965016;18227168;20605574;20672329;21347514;21379327;21433063;21748756;22132110;22349830;22081074;22081516;22547930;16600665;22614033;23053782;23022044;23269786;15146197;16344560;23412966;23544955;23386126;22469980;23119061;23399898;22721769;22362758;22528484;22659470;22787119;22837212;22268729;23125415;23128103;23150579;22966907 3685 B7ZLX0;H7BZG1;Q6LD15 AB209894;ABBA01062340;ABBA01062341;AC017101;AF251818;AF251819;AF251820;AF251821;AF251822;AF251823;AF251824;AF251825;AF251826;AF251827;AF251828;AF251829;AF251830;AF251831;AF251832;AF251833;AF251834;AF251835;AF251836;AF251837;AF251838;AF251839;AF251840;AF251841;AK302550;AK302990;AK309711;AMYH01011337;BC047454;BC072686;BC126231;BC136442;BC144100;BQ101180;BQ129340;CB962576;CH471058;CN409399;DA736912;EF560727;EU332844;M14648;N83286;NM_001144999;NM_001145000;NM_002210;U07375 AAA36808;AAA61631;AAG03000;AAI26232;AAI36443;AAI44101;AAY24257;ABQ59037;ABY87533;BAD93131;BAG63819;BAH13869;EAX10933;EAX10934;NP_001138471;NP_001138472;NP_002201;P06756 Hs.436873 1705632;1770789;1797758;1849832;2123713;2156046;2162406;2165181;2179110;2190921 A006R29;A008S43;D2S1746;D2S2597;D2S2967;G10667;ITGAV_2290;MARC_11551-11552:1002130198:2;RH17666;SHGC-83383 CD51;DKFZp686A08142;MSK8;VNRA;VTNR OTTHUMP00000163473;OTTHUMP00000205399;OTTHUMP00000205400;antigen identified by monoclonal antibody L230;integrin alpha-V;integrin alphaVbeta3;integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51);vitronectin receptor subunit alpha 2303086 MAMTS44_H APPROVED protein-coding ENSG00000138448 6150 01903 193210 REVIEWED 6893126 ITGB2-AS1 ITGB2 antisense RNA 1 21 46340950 46349595 + 12477932;16344560 100505746 ABBA01074179;AL844907;AL844908;AMYH01012301;BC023625;BC040064;BC051807;BC062315;BU146543;DA378472;DA942354;DA944688;DA948979;DB115909;NR_038311;NR_038312;NR_038313;NR_038314;NR_038315;NR_038316 Hs.661035 1654693;1760181;2133796 SHGC-132463;SHGC-32286;SHGC-87704 miscrna ENSG00000227039 44304 VALIDATED 1317220 ITGB1BP1 integrin beta 1 binding protein 1 The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. [provided by RefSeq, Jul 2008] 2 2 p25.2 9463264 9481094 - 9545813 9563643 - 1580863;6480464 8619474;9281591;11919189;9813144;19124506;18812969;17133355;16741948;16344560;16341674;15703214;15489334;15166238;14759258;14702039;12477932;11854171;11741908;11741838;10827173;9110174;8710854;20616313;21832049;21900206;21963094;23317506;22736399 9270 A8MPU2;C9IZZ8;C9J0J6;C9J5T5;C9J6Y2;C9JBU8;C9JZ07;F8WF20;G3V1A3;O14713 ABBA01015584;AC080162;AF012023;AF012024;AK092115;AK093179;AK289817;AK299017;AMYH01010093;BC012264;BG032225;BM823938;BQ425555;BX647099;CH471053;CR457006;DA751320;NM_004763;NM_022334 AAB88671;AAB88672;AAH12264;AAY14857;ABM85411;ABW03723;BAF82506;BAG61097;CAG33287;EAX00991;EAX00992;EAX00993;EAX00994;EAX00995;EAX00996;EAX00997;EAX00998;EAX00999;EAX01000;EAX01001;NP_004754;NP_071729;O14713 Hs.467662 1773126;2122970;2136828;2151598;2165085;2186826;5113866;5123476 D2S1665E;RH16639;RH78071;RH78234;RH98873;SHGC-30375;SHGC-64269;STS-N29464 DKFZp686K08158;ICAP-1A;ICAP-1B;ICAP-1alpha;ICAP1;ICAP1A;ICAP1B ICAP-1;OTTHUMP00000115481;OTTHUMP00000115482;OTTHUMP00000195584;OTTHUMP00000195586;OTTHUMP00000214081;OTTHUMP00000214082;OTTHUMP00000214084;OTTHUMP00000214085;OTTHUMP00000214088;bodenin;integrin beta-1-binding protein 1;integrin cytoplasmic domain-associated protein 1;integrin cytoplasmic domain-associated protein 1-alpha;integrin cytoplasmic domain-associated protein 1-beta APPROVED protein-coding ENSG00000119185 23927 06194 607153 REVIEWED 6481340 ITGB5-AS1 ITGB5 antisense RNA 1 100873992 AC022336 APPROVED miscrna 40309 736631 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 p11.2 33229326 33287204 - 33189246 33247293 - 1625134;1302874;633055;2325851;2325666;2325325;2325322;2302139;2302389;6480464;6484113;6907045;5135538 12639933;9633916;10504498;15583703;19662603;19726708;20187441;15836982;14984413;17543136 21178109;21363926;22378044;22386417;22388103;22396498;22345562;22232555;22247553;22266309;22472442;22451694;19651211;21567400;21967109;22002573;22045736;22114305;22130661;22136719;15961545;15949469;15947241;15919367;15905178;15881415;15878864;15872091;15805105;15795318;15777792;15757908;15737747;15731179;15713750;15699160;15684035;15677455;15677332;15647827;15647274;15645131;15633218;15590642;15583842;15572366;15567743;15539082;15522237;15514009;15509657;12947314;12941630;12931024;12919677;12918102;12915563;12909644;12907437;12904899;12893831;12893184;12883474;12871973;12865438;12844491;12826661;12807887;12803239;12799374;12791669;12788934;12699087;12695522;12694355;12682293;12681287;12662928;12639965;12637511;12606711;12595495;12578911;12574205;12517798;12514714;12509413;12500944;12496264;12486108;12480921;12477932;12456677;12445830;12427871;12411441;12397575;12397374;12393420;12392763;12376466;12372459;14681217;9552005;1715889;17704059;10201960;14970227;9415431;19564406;19454674;19416892;19404550;19359599;19350017;19346516;19342381;19323811;19307303;19297531;19261610;19250636;19240021;19228923;19190332;19179533;18794852;18760454;18755811;18707587;18695939;18687805;18676743;18676377;18648521;18644869;18635536;18632734;18615555;18614994;18613064;18611961;18587047;18583538;18577581;18567578;18554474;18549800;18519809;18512729;18501656;18499669;18492066;18491034;18477477;18462748;18448666;18445685;18425341;18425328;18413316;18383324;18378436;19176753;19170051;19169646;19164533;19123990;19115199;19074826;19073896;19064666;19057841;19026687;19020712;19005162;18992284;18990704;18984674;18983487;18973153;18957620;18945876;18940913;18850009;18845630;18844239;18826391;18820259;11728829;11716783;11668187;11553610;11507094;11462216;11435317;11387256;11358957;11313964;11309411;11279249;11278628;11256614;11238109;11230166;11208159;11149921;11076863;11010812;10944520;10944199;10906324;10852818;10811835;10804218;10741407;10734060;10694273;10684262;10623819;10613898;10593924;10506186;10486209;10459022;10397733;10397731;10229664;10209034;10065872;9916748;9914169;9889149;16547007;16537545;16510444;16504015;16501085;16459165;16457822;16448724;16430945;16421008;16415171;16390868;16385340;16381901;16373174;16365170;16363250;16357324;16344560;16341674;16335952;16301336;16258728;16247454;16228294;16213489;16195423;16157583;16148152;16113793;16105875;16103120;16099422;16076904;16055706;16055535;16043429;16005200;16002725;15987639;15983209;15978110;15978109;18375753;18356158;18326820;18322799;18310319;18250451;18243286;18230652;18155697;18057877;18054915;18048918;18048360;18037995;18032709;18026855;17997226;17991734;17968567;17960115;17901052;17899316;17888902;17760843;17726369;17706641;17671519;17664272;17638891;17634906;17630833;17609118;17603494;17597073;17573778;17560548;17538005;17530710;17521731;17515951;17514628;17498594;17490870;17481915;17469136;17408410;17407140;17380111;17371832;17352405;17331499;17318179;17312461;17311314;17300927;17286276;17186162;17141917;17110618;17081065;17060328;17015707;17012251;16984420;16972245;16940508;16920931;16916750;16908762;16908668;16882656;16820945;16807379;16773720;16762342;16732726;16731529;16707493;16705158;16569430;16547500;15507484;15500293;15489336;15485856;15466867;15389531;15304053;15302884;15292257;15292185;15280429;15276642;15276495;15265786;15256055;15254262;15247268;15240572;15226304;15181153;15171717;15166232;15158122;15117962;15100006;15090462;15070678;15024036;14998999;14983010;14766759;14722085;14699139;14699013;14679206;14676841;14675422;14671618;14666169;14662754;14645603;14633626;14623330;14612932;14612440;14610084;14607975;14602071;14563646;14562042;14550305;14532964;14525968;14522909;14512423;14502569;12970173;12969374;12954625;9813091;9812906;9736715;9722563;9688542;9686320;9685391;9565552;9517988;9501082;9494094;9442085;9431988;9425259;9360996;9360995;9295027;9281592;9281591;9117345;8889548;8838570;8831898;8757599;8757349;8757325;8649427;8630057;8538749;8537347;8444890;8428973;8387021;8245132;8163531;7768999;7690138;7681433;7657702;7545396;7544298;7539135;7523423;7504269;3546305;2958481;2572537;2527614;2524991;2249781;2202737;2138612;2116421;12372334;1693624;1690718;1551917;12435334;12364323;12221126;12218055;12209735;12200131;12181354;12181350;12174366;12171996;12163503;12140560;12138201;12138200;12118253;12097820;12091396;12070135;12054567;12020426;11996105;11989791;11981820;11980922;11967148;11941451;11934885;11932920;11931654;11919189;11918217;11914080;11909975;11907260;11893752;11884618;11884516;11882657;11861761;11807098;11805102;11779688;11776052;11775028;11751905;11741908;9660880;12175627;2156854;12639940;7559467;8798654;2967289;2649503;10464311;15611085;15156152;21400218;22422622;22590584;22648415;15006356;18727519;19297850;20869114;21119598;21325030;21357540;21501586;21558392;20075392;19913121;20435742;20485444;20598296;20628086;20628624;20678483;18846341;20133364;20351310;20427540;10388537;10673366;10676904;10778855;10982388;11054877;11888933;11964076;1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3688 C9JJP8;C9JNE0;C9JPK5;E7EQW5;E7ERX5;E7EUI6;E9PLR6;E9PQJ2;H7C4K3;H7C4N8;Q5T3E4;Q5T3E5;Q5T3E6;Q8WUM6 ABBA01033378;AI261443;AK291697;AL365203;AL710802;AMYH01002223;AMYH01002224;BC020057;BC113901;BM791591;BM973433;BX537407;CH471072;CX868374;CX871886;DA600874;DB063946;DB292597;M34189;M84237;NG_029012;NM_002211;NM_033668;NM_133376;U28252;U33879;U33880;U33882;X68969 AAA59182;AAA74402;AAA74403;AAA79832;AAA79833;AAA79834;AAA79835;AAA81366;AAH20057;AAI13902;ABM81995;ABM85177;BAF84386;CAD97649;CAL38075;EAW85948;EAW85949;EAW85950;EAW85951;EAW85952;EAW85953;EAW85954;EAW85955;EAW85956;EAW85957;EAW85958;EAW85959;EAW85960;NP_002202;NP_391988;NP_596867;P05556 Hs.643813 1676176;1684892;1691054;1741585;1748473;1794814;1796138;2130592;2166920;2176972;5023258 D10S2354;D10S2370;G15908;GDB:181546;ITGB1_1823;PMC59887P1;RH40308;RH47140;RH47472;SHGC-32719;STS-M34189 CD29;FNRB;GPIIA;MDF2;MSK12;VLA-BETA;VLAB OTTHUMP00000019420;VLA-4 subunit beta;fibronectin receptor beta subunit;fibronectin receptor subunit beta;glycoprotein IIa;integrin VLA-4 beta subunit;integrin beta 1;integrin beta-1;very late activation protein, beta polypeptide APPROVED protein-coding ENSG00000150093 6153 00628 135630 REVIEWED 1313694 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) The product of this gene belongs to the integrin beta chain family of proteins. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin beta chain beta 2. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Defects in this gene are the cause of leukocyte adhesion deficiency type I (LAD1). Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.3 45130296 45165303 - 46305868 46348753 - 1581183;1581184;1581185;1600220;1580863;1358329;6480464;6480655;6482196;6482197;6482223;6482227;6482226;6482229;6482199;6482222;6482200;6482228;6482224;6482221;6482225;6484113;6907073;6907051;6907066;6907045;6907072;6907049;7240710;5135538 14576072;11935032;11703955;1968911;12297042;21382035;22490516;18615643;21103413;11031123;18675632;8881759;1374449;10886250;21297967;10030843;20549317;19812597;14512306;11007822;19752320;15277234;11907109;20504838;17543136 11745332;11714770;11700305;11544294;11477072;11353828;11279101;10961871;10906324;10846180;10845911;10835351;10830953;10766246;10712675;10602019;10591186;9884339;9786897;9736715;9442085;8995416;8757599;8649427;8568270;8125298;7822326;7686755;7642561;7621072;7514637;3594570;3305706;3073708;3028646;2954816;2454931;2150484;14722085;14702343;14702039;14676297;14576361;13679375;12960243;12952972;12885870;12878157;12847278;12824186;12816955;12771186;12760968;12731070;12694184;12682249;12676940;12643440;12617168;12600815;12576754;12529399;12516552;12477932;12444150;12393547;12390020;12379807;12377941;12377937;12377933;12377763;12368274;12324470;12244179;12207338;12200369;12183834;12171996;12163503;12145463;12139949;12097820;12082592;12056825;12055249;12050191;11986332;11967116;11953106;11937543;11931654;11922836;11914080;11896403;11882363;11843895;11838958;11831866;11823004;11818440;11781316;11753075;11751951;19139946;19136961;19135988;19086264;19073595;19056482;19029120;18955128;18941116;18922916;18842294;18829897;18820737;18818407;18802065;18789886;18755982;18714035;18685529;18676132;18644795;18636124;18617697;18568448;18550856;18509085;18495784;18414903;18397383;18375764;18369341;18367725;18322203;18306933;18279666;18199704;18191791;18174366;18164590;18076013;18065787;18057877;18032709;17996943;17900957;17875809;17726152;17721605;17719638;17716608;17703412;17676580;17673459;17644514;17635865;17591777;17531998;17522381;17468108;17346796;17311314;17222807;17107954;17016617;16963453;16915040;16901728;16846215;16782049;16774752;16764927;16506060;16505487;16492228;16467205;16415171;16403785;16344560;16335952;16239529;16037628;15965234;15958383;15802551;15741160;15665082;15641787;15615722;15558232;15489334;15485828;15454120;15328156;15304494;15294914;15258348;15241561;15235127;15187162;15181567;15090462;14769799;14748512;16831868;12885943;1694220;18029348;11857637;19423540;19420105;19372141;19360456;19353432;19307784;19290459;19264679;19261694;19258923;19234188;19175917;22017400;1683838;1674496;1590804;1352501;1347532;1346613;8558011;1967280;10352278;8777714;9765275;11707406;10388537;21597477;18239087;22844116;18626404;20529581;20628086;20677014;19913121;19800635;20409465;12606711;17321526;19052753;19340879;19353220;19372628;19446361;19568411;19571252;19578796;19617577;19647987;19730683;19750481;19821948;19863185;19864611;20007244;20008295;20033057;20130240;20201926;20233927;20237496;20362473;20406964;20438785;20503287;8706128;9419363;21193407;21135163;19728062;20580686;21030716;20445017;20511548;20802378;21037509;20826754;20739459;21078912;20679211;20665668;21856004;21200022;20945386;21270398;21152086;20805842;21511340;20618153;20953905;21269583;21454358;21651795;21874872;21676865;21705617;22232682;21536861;21605078;23039186;23532856;23460610;23595985;23442854;22393018;22052909;20187292;21244370;21876037;21840991;22893614;21890473;22156198;21610569;21712539;22095715;16762342;22396536;22134107;23133361;22083532;22697794;23206327;23645883;23001012;23184931;23243275;23386618;23097489;23388428;23180820;19721069;20661303;22190034;22505724;22778269;22888138;22908191;22933624;22707713;22911848;23144497;23234758 3689 A8MVG7;A8MYE6;E5RFI0;E5RGK9;E5RHE6;E5RHT0;E5RIE4;E5RIG7;E5RK25;E5RK54;E7EVZ9;J3KNI6;P05107 AB208909;ABBA01074178;ABBA01074179;AF016894;AK095992;AK097216;AK097864;AK128344;AK222505;AK303488;AL163300;AL773603;AL844907;AL844908;AMYH01012301;AU279404;BC005861;BC021077;CH471079;DA200537;L78790;M15395;NG_007270;NM_000211;NM_001127491;S81234;X64072;Y00057 AAA59490;AAB21404;AAH05861;AAH21077;AAL14027;AAL40068;ABM83610;ABM86853;ACE87021;ACE87708;BAD92146;BAD96225;BAG53190;BAG64523;CAA45427;CAA68266;CAB90553;EAX09381;EAX09382;EAX09383;EAX09384;EAX09385;NP_000202;NP_001120963;P05107 Hs.375957 1654693;1694896;1722257;1741611;1741801;1743771;1760181;1791872;1791874;2121467;2133796;2217498;5114045 G44333;G60035;GDB:181564;GDB:185175;GDB:373059;ITGB2_2800;PMC129056P1;PMC129056P2;RH93593;SHGC-132463;SHGC-32286;SHGC-87704;STS-M15395 CD18;LAD;LCAMB;LFA-1;MAC-1;MF17;MFI7 OTTHUMP00000115278;OTTHUMP00000115279;OTTHUMP00000115280;OTTHUMP00000115281;OTTHUMP00000115282;cell surface adhesion glycoprotein LFA-1/CR3/P150,959 beta subunit precursor);cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta;complement receptor C3 beta-subunit;complement receptor C3 subunit beta;integrin beta chain, beta 2;integrin beta-2;integrin, beta 2 (antigen cd18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit);leukocyte cell adhesion molecule CD18;leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C APPROVED protein-coding ENSG00000160255 6155 02506 116920;600065 REVIEWED 733257 ITGB4 integrin, beta 4 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q25 71229111 71265494 + 73717516 73753899 + 1580863;729025;6480464;6907045;7240710;5135538 8026337;17543136 11375975;2311577;7545057;19151752;19138983;19124484;19094228;19087978;19074885;19061949;19005215;18974120;18971471;18959757;18955862;18940803;18824633;18550570;18348258;18299254;18281537;18270579;18224668;17964297;17711859;17515951;16965770;16964243;16914518;16870608;16740748;16713569;16707493;16537545;16436605;16335952;16258729;16007143;15951569;15817481;15707651;15611341;15579904;15542431;15387376;15381079;15367640;15304080;15302884;15194479;15161909;15121854;15009117;14602071;14517202;17314405;14512419;12919677;12865436;12694355;12499048;12485428;12477932;12429829;12397374;12168086;12167101;12110680;12107410;12105188;12023052;11886501;11884516;11848444;11809527;11733063;11684709;11389095;11328943;11320086;11289717;11251584;11044453;10873890;10811835;10792571;10727209;10711425;10671376;10637308;12441134;10504457;10484780;10477766;10428948;9892956;9837976;9792864;9660880;9546354;9428518;9422533;9374518;9344615;9207246;9194858;9171350;9166594;8444901;7982032;7556090;2542022;2311578;2070796;1976638;12119179;9500991;2649503;2138612;1693624;20512931;19913121;20603614;20628086;20509141;12482924;12802069;14668477;16581764;16757171;18814027;19242489;19403692;19567674;19586553;19597468;19670701;19710103;19923172;20510671;20307589;16878156;20364299;20936779;20937830;21969027;22496621;20695903;20729552;20855525;20301336;20705595;21098729;20955205;22939629;21388972;21769085;22493440;23348745;22545078;21963679;21139048;21906983;21987572;22049212;22308039;20301304;20301481;20301543;22917688;22304920;23212923;23499737;22673183;18729074;22865863 3691 J3KSH9;J3QQL2;J3QRK0;J3QS11;P16144 AB208913;ABBA01028772;ABBA01028773;AC087749;AF011375;AF011376;AI318403;AJ251004;AK304792;AK310952;AMYH01008635;BC109238;BC118916;BC126411;BC143738;BC143742;CA391583;CH471099;NG_007372;NM_000213;NM_001005619;NM_001005731;U66541;X51841;X52186;X53587;Y11107 AAB65421;AAB65422;AAC51632;AAC51633;AAC51634;AAI09239;AAI18917;AAI26412;AAI43739;AAI43743;BAD92150;BAG65542;CAA36134;CAA36433;CAA37656;CAB61345;EAW89305;EAW89306;EAW89307;EAW89308;EAW89309;EAW89310;EAW89311;EAW89312;EAW89313;EAW89314;EAW89315;NP_000204;NP_001005619;NP_001005731;P16144 Hs.632226 1670460;1749833;2130226;2217500;5021710;5122930 D17S2049;ITGB4_2759;RH18101;RH47571;SHGC-111569;ksks329 CD104 CD104 antigen;GP150;integrin beta 4;integrin beta-4;integrin beta-4 subunit APPROVED protein-coding ENSG00000132470 6158 00946 131800;147557;226650;226730 REVIEWED 1320718 ITGB3BP integrin beta 3 binding protein (beta3-endonexin) This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 p31.3 63679050 63761423 - 63906441 63988944 - 6480464 10490654;7593198;18521086;16710414;16622420;16622419;16189514;15489334;15254226;15082778;12477932;12244126;11864709;11713274;10673397;10579726;9182673;16169070;12787561;14960584;15721744;16252010;16630834;20379614;18029348;21832049;23028590;22318606;15604093;20309963;21900206 23421 Q9UKB6 AA873717;ABBA01074569;ABBA01074570;AF175306;AK309622;AK312944;AL592218;AMYH01000675;AMYH01000676;BC009929;BC014385;BU853146;BX004807;CH471059;NG_030011;NM_001206739;NM_014288;NR_045147;U37139 AAC50294;AAC50295;AAF00239;AAH09929;AAH14385;BAG35785;EAX06561;EAX06562;EAX06563;EAX06564;EAX06565;EAX06566;EAX06567;NP_001193668;NP_055103;Q13352 Hs.166539 1650441;2152886 SHGC-74928;SHGC-74935 CENP-R;CENPR;HSU37139;NRIF3;TAP20 OTTHUMP00000015392;OTTHUMP00000015409;OTTHUMP00000015410;beta 3 endonexin;beta-3-endonexin;centromere protein R;integrin beta-3-binding protein;nuclear receptor-interacting factor 3 APPROVED protein-coding ENSG00000142856 6157 09267 605494 REVIEWED 1345363 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008] 17 17 q21.32 42686207 42745076 + 45331208 45390077 + 1580496;1625134;1580863;1580489;2316358;2316360;2316362;2316361;4892652;2317300;4993468;4990460;5037225;5037228;5037230;5037231;5037229;5112894;5128501;5128481;5128476;5100478;5128478;5128498;6480464;6484113;6907406;6907410;6907411;6907404;6907385;6907396;6907424;6907420;6907045;7240710;5135538 15634267;12639933;16322781;15678115;15280099;11493456;11705748;17868879;16869003;15114484;16793666;21107114;19386436;17556058;15817799;19272161;11299820;9315527;10531147;20846430;12746502;10583927;9716140;16831169;15886525;11051455;18419255;21804539;19368146;18638458;8083378;17543136 19562259;17630485;17146626;16716076;22171266;22174684;22207115;22308022;22484027;22448399;22452684;21241403;21678053;22116617;22002573;22015616;22132110;22136613;11606749;1438206;2452834;10429193;15215180;3607284;10605720;19637098;19588468;19570064;19255147;19245802;19238444;19235843;19230252;19212638;19212436;19207108;19205270;19197137;19184277;19141530;19132198;19131662;19123042;19118218;19118033;19117493;19110485;19106083;19104837;19074851;19072566;19071013;19061491;19037107;19019827;19018779;19017937;19008959;19001202;18989530;18979363;18978678;18974842;18936436;18930220;18927546;18927433;18854176;18841997;18836731;18836720;18832906;18826388;18824633;18821851;18814143;18803625;18796633;18791937;18728123;18712091;18709641;18685811;18674955;18673340;18665040;18657307;18648521;18641368;18638089;18635536;18577523;18573917;18550570;18549690;18516040;18513389;18512729;18503143;18484951;18458155;18441324;18433460;18405917;18399841;18396070;18383324;18375753;18364349;18353785;18353318;18345483;18343248;18334487;18331836;18331351;18321071;18317590;18316775;18312855;18310319;18260892;18247041;18237139;18230083;18214290;18211801;18208809;18201749;18200665;18191725;18175315;18174155;18162078;18160589;18160561;18156175;18088350;18084301;18067652;18065693;18064323;18062611;18057877;18056258;18045938;18045606;18045240;18041653;18035074;18031296;18021403;17959856;17957566;17954176;17928472;17912026;17907177;17855352;17854909;17827388;17763154;17728329;17714854;17681328;17679464;17665449;17644514;17642204;17641225;17635696;19559392;19530321;19526385;19515580;19475568;19463119;19463111;19461049;19395327;19390575;19388931;19374152;19371633;19361361;19350519;19345676;19336370;19336355;19334037;19329429;19286442;19279667;19264973;19263529;19262211;17621633;17615290;17607710;17561290;17559347;17550972;17538005;17515951;17483236;17482311;17468108;17446174;17439948;17432927;17414216;17406648;17376438;17369840;17357883;17346829;17337041;17334320;17332246;17320454;17290027;17278970;17272505;17264806;17258347;17230042;17220212;17206538;17203304;17203213;17196570;17175151;17160992;17158881;17111197;17092301;17074516;17034033;17032655;17138951;16969099;16935858;16905953;16895913;17127487;16879215;16877710;16875034;16859511;16822941;16818691;16790523;16756721;16731529;16724005;16723352;16721604;10982404;10964931;10896934;10837460;10835423;10749942;10497223;10438928;10397733;10391209;10233432;10037797;9916748;9790984;9686320;9684783;9517988;9376589;9256940;9215749;9195946;9030514;8831898;8781422;8757599;8663236;8649427;8631894;8400294;8387021;8298129;8244378;8198553;8132570;8093349;7878622;7694683;7690138;7682219;7593198;7539135;7532190;3828395;3801670;3494014;3165296;2787511;2565345;2478219;2454952;2392682;2345548;2341395;2202737;2145280;2001252;1967954;11812069;11807098;11776310;11723131;11714857;11704375;11686325;11683411;11588040;11583324;11577104;11568114;11546839;11545752;11533523;11460491;11454259;11447076;11397354;11341749;11331301;11257275;11235724;11151063;11053714;11028489;1953640;1694173;1602006;1549507;1430225;1429573;1382574;1371279;16339753;16166568;11238109;11927607;9169439;11877390;12606711;8132607;2138612;1693624;10964917;15156152;16702043;16676352;16675000;16636497;16635210;16634766;16582881;16573563;16567932;16513293;16504741;16469512;16444441;16412752;16407244;16400188;16385340;16380674;16359515;16357324;16353042;16340127;16335952;16322334;16317580;16317099;16307159;16263699;16248996;16228296;16213489;16195248;16158739;16157382;16153930;16150802;16133898;16115959;16113799;16105876;16102042;16100725;16091654;16051597;16035619;16005200;15998788;15990752;15978110;15976180;15970922;15921657;15917997;15890274;15886806;15863506;15847651;15842360;15840736;15834589;15834425;15826939;15795319;15748237;15730528;15705408;15701721;15701653;15699036;15695828;15676177;15663601;15638730;15627799;15609125;15590407;15583747;15575508;15565371;15564935;15546585;15509546;15489334;15468167;15456946;15355504;15355503;15344881;15331787;15299032;15227729;15226180;15219201;15187087;15178823;15166949;15166947;15166939;15166241;15147527;15134555;15131115;15076187;15056669;15045135;15044441;14992889;14987913;14966135;14963283;14746139;14691579;14691438;14690453;14681220;14675395;14669168;14634961;14629479;14614355;14593208;14557872;14525764;14524530;14521607;14517343;14499914;13678940;12957761;12952967;12941045;12932598;12911597;12902636;12902444;12899665;12874388;12871600;12871468;12855229;12827240;12826159;12818251;12818249;12807887;12799374;12791034;12771130;12765524;12750158;12738509;12736272;12730600;12720308;12719784;12716314;12714203;12694355;12691260;12690916;12690117;12682293;12668663;12665801;12660257;12645863;12639965;12637342;12609844;12586134;12578602;12553378;12518110;12514663;12511588;12499711;12486108;12460991;12427871;12426312;12399420;12393510;12372811;12372469;12372433;12370491;12364323;12362250;12358597;12353082;12297512;12237321;12237112;12218055;12210725;12209993;12200372;12198771;12168086;12161360;12152651;12152649;12140290;12083483;12082592;12082590;12073410;12071877;12049640;12038797;12036875;12031826;12008962;11994301;11962738;11959660;11953315;11940607;11934894;11932255;11897046;11891802;11884718;11875117;11867691;11864709;11858493;11858476;11812775;22730538;22174124;22190468;22422622;22456341;21122545;20584077;19913121;20485444;20519501;20532885;20554778;20592457;20600001;20628086;20634891;20667040;20673868;20691446;20739877;21590707;21813062;21832081;20033473;20477989;20230421;20638909;20819594;20929856;21071690;21182210;10022831;10640428;10684262;10747940;10822899;10848816;11279932;11470407;11739968;12477932;12535520;14681217;15067009;15897908;15968394;16005629;16051604;16275649;16581250;16933105;1693626;17218263;18310446;19232685;19267251;19336737;19350618;19366731;19469865;19487690;19527712;19527732;19541645;19546854;19604247;19617625;19630800;19633306;19635510;19654300;19656390;19670701;19691478;19695571;19702628;19704023;19729601;19730003;19740098;19751734;19765213;19789190;19804783;19805198;19808093;19808644;19815712;19816083;19821948;19824427;19837659;19860767;19863457;19876733;19882657;19888429;19889638;19903699;19906129;19923980;19934566;19948007;19956635;19959486;19996122;20048261;20075254;20076847;20078877;2010551;20149160;20161734;20162297;20181715;20192979;20204402;20237496;20306691;20308600;20363746;20369606;20379614;20406466;20425806;20452482;20458832;20538554;7505120;7592818;8467233;8798654;8837777;20857483;21135163;21508388;20717043;20739287;20802378;20828133;20873239;21034162;21039385;21044892;19038456;20020534;20702409;21054877;21080081;20546203;19778317;20565758;20002543;20106508;20339539;20438394;20679525;20826760;21091771;21109038;20138334;20595101;20615878;20837477;20492470;21102624;20945385;21190668;20978323;17192395;21156831;21283814;20472470;21325030;22948415;23022222;23243309;22879933;23234019;23289212;22538781;23197154;23386126;23545624;22328516;21645227;21353223;22028352;21570717;21344378;21529934;21764795;22531012;19573311;21645497;12204115;15466936;21917754;21966982;21978494;22407444;22457811;22461623;22581054;21622897;22015659;22094875;22102273;23181508;22078565;11042121;21626402;21935711;22268819;22466811;22613710;22641344;22095620;22698642;23161541;23119061;23022044;23204516;23243278;23382691;23384292;18051367;20661303;21143381;21951552;22362758;22528484;22669259;23253071;23580774;23519467;23125415;23150579 3690 B4DTY9;I3L4X8;P05106;Q16157 ABBA01041118;AC068234;AMYH01008446;AY826979;BC127666;BC127667;BE389074;BE893993;BG170864;BQ437000;CH471231;DQ454156;J02703;L28832;M20311;M25108;M32686;M35999;M57494;NG_008332;NM_000212;S49379;S70348;U03881;U95204 AAA16076;AAA20880;AAA35927;AAA36121;AAA52589;AAA52600;AAA60122;AAA67537;AAB23689;AAB30847;AAB71380;AAI27667;AAI27668;AAX33645;ABE67092;EAW57679;EAW57680;EAW57681;EAW57682;NP_000203;P05106 Hs.218040 1659857;1660791;1741967;1757489;1778266;2116942;2140458;2158295;2159425;2186083;5024039;5096362;5493866 D16S325;D17S1991;D17S660;G10641;GDB:187323;Itgb3;RH47114;SHGC-144857;SHGC-35279;STS-AA037229;STS-M35999;STS-R30939;STS-S70348 BDPLT16;BDPLT2;CD61;GP3A;GPIIIa;GT integrin beta-3;platelet glycoprotein IIIa;platelet membrane glycoprotein IIIa 1643091 BP90_H APPROVED protein-coding ENSG00000259207 6156 01428 173470;187800;273800;608446 REVIEWED 1343409 ITGB7 integrin, beta 7 12 12 q13.13 51871374 51887267 - 53585107 53601000 - 1580863;6480464;6484113;6907045;5135538 17543136 16874740;9233649;1777426;14681217;2040616;18829455;17490615;17325197;16818733;16177076;15749880;15699171;15663557;15489334;15448154;14608374;12682249;12606711;12477932;11781567;11160270;11035069;10837471;10790430;9765275;9655832;8119947;7689608;7509610;2083230;1382574;1372909;1373725;1543919;19933330;21926999;21296888;21430257;15225631;19699211;21398606;21075690;21474670;21357540;23553626;22418441;21906983;22822002;23251661;18264102;19795986;19864932;21284901;21383973;21417760;21926353;22908191 3695 F5H6T4;F8VNX4;F8W186;H3BRM2;H3BRX4;P26010 ABBA01008317;ABBA01008318;AC073573;AK298239;AK300960;AK301523;AK311703;AMYH01004477;BC015916;CH471054;L23823;M62880;M68892;NM_000889;S49378;S80335 AAA36118;AAA59184;AAA59185;AAB21332;AAB23688;AAH15916;ABM86374;ABW03787;BAH12742;BAH13382;BAH13505;EAW96675;NP_000880;P26010 Hs.654470 1764685;1777602;1778394 D12S1937;RK1228_1229;SHGC-148278 OTTHUMP00000242064;OTTHUMP00000242065;OTTHUMP00000242066;gut homing receptor beta subunit;integrin beta 7 subunit;integrin beta-7 protein-coding ENSG00000139626 6162 00948 147559 PROVISIONAL 1346382 ITGB6 integrin, beta 6 2 2 q24.2 160666479 160764836 - 160958233 161056590 - 1580863;2302245;2302244;6480464;6907045;5135538 18221819;18538673;17543136 12177807;2365683;19590686;19088289;18698261;18349127;17684544;17438134;17275949;16381901;16024014;16005200;15828940;15815621;15489336;15489334;15458435;15194773;12917446;12634787;12477932;11821050;11807098;11668187;11407978;11230166;11095652;11076863;11029766;10906324;10721002;10025398;9741315;9252563;8120056;8081887;7959743;7626292;7537970;1729173;1532572;1382574;8798654;11992542;20554778;20628086;19913121;19448673;19549907;19581046;19910543;19920174;20237496;20418489;20889853;20854469;20838674;21178476;21323541;21037076;21132011;11857080;21913024;21787362;21934552;22787119 3694 C9JA97;E9PEE8;F8WBJ8;P18564 A26609;ABBA01004870;ABBA01004871;AC080166;AC092153;AK290300;AK304203;AK308325;AK313944;AL831998;AMYH01011206;AMYH01011207;BC121178;BC143656;CH471058;M35198;NM_000888;S49380 AAA36122;AAB23690;AAI21179;AAX93093;AAY24053;BAF82989;BAG36662;BAG65080;CAA01832;CAL38675;EAX11390;NP_000879;P18564 Hs.470399 1691254;1711042;1713263;2170649 RH120622;RH94144;SHGC-54614;SHGC-86148 OTTHUMP00000162896;OTTHUMP00000205127;OTTHUMP00000205128;OTTHUMP00000207333;integrin beta-6 protein-coding ENSG00000115221 6161 00947 147558 PROVISIONAL 1349145 ITGB5 integrin, beta 5 3 3 q21.2 125964485 126088834 - 124481795 124606144 - 1580863;6480464;6907045;5135538 17543136 19502044;19255147;18844213;18648521;18590706;18550570;18445685;18162078;17963729;17074516;16675963;16672769;16614246;16385340;16005200;15979906;15866865;15489334;15456946;15156152;14741360;14702039;12769841;12606711;12477932;12358597;12356872;12270930;11934885;11462216;11435317;11331301;11287419;11278329;11162558;11146654;10995448;10579726;10537314;10438928;9531507;9443892;9442085;8886177;8757599;7689573;7682219;7592829;2371275;2328726;2211615;1918165;1694173;11927607;12459484;22566688;19913121;20026907;20507994;20615244;20628086;20431064;20400979;11877043;14627618;16355270;19267182;19695571;19910644;20237496;21098231;20719960;16878156;19811096;20626753;20404485;21344378;15604093;21978494;22547695;22623531;21906983;22692860;23227240;15673687;22470492;22503669;23028753;22879933;15174051;17170699;21963094;21988832;23000965;23269786;22561002;22659470 3693 F8WBG2;H7C4W1;H7C580;H7C5U2;L7RT22;P18084 ABBA01016431;ABBA01016432;AC022336;AC026342;AK054968;AK130168;AK309551;AK315429;AMYH01013439;BC006541;CH471052;EU332848;J05633;JX512446;M35011;NM_002213;X53002 AAA52707;AAA59183;AAH06541;ABM83704;ABM87024;ABY87537;AGC09593;BAG37817;CAA37188;EAW79405;EAW79406;NP_002204;P18084 Hs.536663 1651672;1667828;1672561;1797762;2131147;2131640 D3S3998;D3S4240;G09533;ITGB5_1796;SHGC-77290;STS-D29504 FLJ26658 OTTHUMP00000215272;integrin beta-5 protein-coding 6160 00949 147561 PROVISIONAL 1322799 ITGB8 integrin, beta 8 This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 p21.1 20337250 20421907 + 20370725 20455382 + 1580863;1358329;6480464;6907045;5135538 12297042;17543136 1918072;18549475;16702213;12875973;12853948;12690205;12477932;12324452;11970960;11156415;9847074;9252563;7525578;20956944;21178476;19267251;19920174;20019187;20237496;20379614;20519498;20942236;21646718;21878622;21139048;21859829;22279205;23283986;22753015 3696 B4DHD4;P26012;Q9BUG9 AACC02000007;AB209429;ABBA01056671;ABBA01056672;AC004130;AK295044;AMYH01017103;AW516961;BC002630;BC042028;BI861225;BT006739;CH236948;CH471073;M73780;NM_002214 AAA36034;AAH02630;AAP35385;AAQ96845;AAQ96846;BAD92666;BAG58095;EAL24275;EAW93724;EAW93725;NP_002205;P26012 Hs.592171 1684385;1697900;1713541;1770002;1797764;1850645;1851941;2119702;2140193;2173759;2187225;5014051;5022651;5037552 D11S2921;D7S1900;D8S2278;D8S2279;GDB:1317418;ITGB8;ITGB8_762;RH102478;RH120257;RH17734;RH66568;RH71155;RH92522;SHGC-12785 OTTHUMP00000025212;integrin beta-8 APPROVED protein-coding 6163 05001 604160 REVIEWED 6481341 ITIH4-AS1 ITIH4 antisense RNA 1 100873993 AC006254 APPROVED miscrna 40310 1345462 ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009] X X X p11.22-p11.21 58607891 58657233 - 54792341 54841398 - 54775332 54824673 - 12975309 347365 Q6UXX5 ABBA01069589;ABBA01069590;ABBA01069591;ABBA01069592;ABBA01069593;ABBA01069594;ABBA01069595;AL022575;AMYH01022432;AY358170;CA413764;CH471154;NG_013240;NM_198510;Z98046 AAI56206;AAI57043;AAQ88537;EAW93186;EAW93187;EAW93188;NP_940912;Q6UXX5 Hs.454272 1702322;1767268;2121082;2143983 AL023600;DXS674;DXS6955;X99129 ITIH5L;UNQ6369;dJ14O9.1 ITI-like protein;OTTHUMP00000023380;inter-alpha inhibitor H5-like protein;inter-alpha-trypsin inhibitor heavy chain H5-like protein;inter-alpha-trypsin inhibitor heavy chain H6 APPROVED protein-coding ENSG00000102313 28907 17164 REVIEWED 1345234 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] 10 10 p15 7785242 7831489 + 7745236 7791483 + 1580863;6480464 14718574;18425383;18382897;16702221;16335952;15840581;12754519;12477932;10100603;9677337;9514613;9425062;8601712;8125298;7682553;7516184;7513643;7504674;3663330;2476436;2465147;2462430;2450046;2446322;1385302;1384548;16169070;16712791;10917520;12068291;14744536;16385451;20297716;21939789;22116950 3698 P19823;Q5T985;Q5T987 AA406494;ABBA01034736;ABBA01034737;AK225277;AK225329;AK291379;AK297334;AL158044;AMYH01002012;AMYH01002013;BC132685;BG617651;CB154170;CH471072;M18193;M33033;NM_002216;X07173 AAA59195;AAA60558;AAI32686;BAF84068;BAG59791;CAA30160;EAW86376;EAW86377;EAW86378;NP_002207;P19823 Hs.75285 1650571;1653784;1676516;1742245;1764055;1767345;5122214 D10S2422;GDB:193869;RH1571;RH65884;RH69773;SHGC-147714;WI-17151 H2P;SHAP ITI heavy chain H2;ITI-HC2;OTTHUMP00000019058;OTTHUMP00000019059;inter-alpha (globulin) inhibitor H2;inter-alpha (globulin) inhibitor, H2 polypeptide;inter-alpha-inhibitor heavy chain 2;inter-alpha-trypsin inhibitor complex component II;inter-alpha-trypsin inhibitor heavy chain H2;serum-derived hyaluronan-associated protein APPROVED protein-coding ENSG00000151655 6167 00890 146640 VALIDATED 1348863 ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 13 13 13 q33 82947678 83211592 + 100902967 101166795 + 102104966 102368794 + 1580863;6480464 10051402;19240061;14702039;12477932;12364586;19913121;20628086;23192594;23251661;11572973;15342556;16344560;21284329;23145134 9358 B3KTP1;B4DN32;B4DQ02;O95965 AB008375;ABBA01027080;ABBA01027081;ABBA01027082;AE014293;AF072752;AK026784;AK075136;AK095875;AK291340;AK297744;AK298571;AK308194;AL139800;AL160153;AL355807;AL359052;AL527690;AMYH01005337;AMYH01005338;BC036788;BP284376;BQ014290;CA431258;CA436890;CD110646;CH471085;DA578691;DA661036;DA863037;EL948537;NM_001271754;NM_001271755;NM_001271756;NM_004791 AAD17666;AAH36788;AAN16024;BAA22994;BAF84029;BAG53153;BAG60094;BAG60764;CAB94388;EAX09052;EAX09053;NP_001258683;NP_001258684;NP_001258685;NP_004782;O95965 Hs.696554 1652674;1662263;1682557;1732313;1736348;1775529;1850021;2159971;2162939;2174396;2177338;2189885;2190013;2190059;2190061;2190063;2190065;2190119;2190199;2190219;2190221 8-102;99-26135;99-31734;99-31736;99-31764;99-31780;99-62629;99-79413;99-79468;99-79473;A006W15;D11S1844;D13S859E;G30567;RH69618;RH78346;RH92181;SHGC-17222;SHGC-8457;SHGC-8465;WI-21803 OSCP;TIED ITGBL1, integrin beta-like 1;OTTHUMP00000018659;integrin beta-like protein 1;osteoblast-specific cysteine-rich protein;ten integrin EGF-like repeat domain-containing protein;ten integrin EGF-like repeat domains protein protein-coding ENSG00000198542 6164 07253 604234 REVIEWED 1314518 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 The protein encoded by this gene is the heavy chain of a serine protease inhibitor that may serve to carry hyaluronan in plasma. This gene is part of a cluster of similar genes on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 p21.1 52786648 52801117 + 52811602 52826084 + 1580863;6480464 2446322;14718574;19416921;19367581;18226209;17675295;15489334;14760718;12754519;12477932;11807786;10100603;9756925;9692908;9677337;9425062;7681778;7592891;7535743;7522574;7513643;7505744;7504674;3663330;2476436;2471637;2465147;1385302;1384548;1380832;21939789;16344560;18624398;21926972 3697 B5MCP1;B7Z8B6;F5H7E1;F8WAS2;H7C0N0;H7C5I0;Q01746 AA897466;ABBA01024498;AC006254;AK292750;AK298398;AK298423;AK298455;AK303110;AK303156;AK314198;AMYH01013188;BC069464;BC109115;BX496392;CH471055;DB188130;M18192;NG_016005;NM_001166434;NM_001166435;NM_001166436;NM_002215;X16260;X63652;X69532;X75318 AAA60557;AAH69464;BAF85439;BAG36876;BAH12775;BAH12785;BAH12794;BAH13902;BAH13906;CAA34346;CAA45188;CAA49279;CAA53067;EAW65259;EAW65260;EAW65261;NP_001159906;NP_001159907;NP_001159908;NP_002206;P19827 Hs.420257;Hs.76716 1660421;1694886;1725633;1743207;1858317;2122431 G44326;G62028;GDB:303926;SHGC-11985;SHGC-77008;STS-X69532 H1P;IATIH;IGHEP1;ITI-HC1;ITIH;MGC126415;SHAP ITI heavy chain H1;ITI-HC1;OTTHUMP00000197035;inter-alpha (globulin) inhibitor H1;inter-alpha (globulin) inhibitor, H1 polypeptide;inter-alpha-inhibitor heavy chain 1;inter-alpha-trypsin inhibitor complex component III;inter-alpha-trypsin inhibitor heavy chain H1;serum-derived hyaluronan-associated protein APPROVED protein-coding ENSG00000055957 6166 00927 147270 REVIEWED 737492 ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4 The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 3 3 p21.1 52822046 52839734 - 52847006 52864717 - 633094;1582334;1580863;1627650;6480464;7240710 9480842;10486281;14661079 18029348;14718574;19367581;19263524;18455532;16335952;16271702;14760718;12754519;12147176;9756925;9126497;8797089;7805892;7775381;7587397;7541790;12477932;22610502;21331437;18624398;21926972;21926974;21988832;23128233 3700 B2RMS9;B7ZKJ8;F5GXQ1;H7C0L5;Q14624 AB209388;ABBA01024498;AC006254;AI217735;AK298407;AK298412;AK298429;AK303769;AMYH01013188;AW291001;BC136392;BC136393;BX477542;BX647322;CH471055;D38595;DC412911;NG_016006;NM_001166449;NM_002218;U43163 AAD05198;AAI36393;AAI36394;BAA07602;BAD92625;BAH12780;BAH12781;BAH12787;BAH14043;EAW65264;EAW65265;NP_001159921;NP_002209;Q14624 Hs.709406 1681600;1709892;1791644;1791646;1791648;1791650;1791652;1791654;1791656;1791658;1791660;1791662;1791664;1791666;1791668;1791670;1791672;1791674;1791676;1791678;1791680;1791682;1791684;1791686;1791688;1791690;1791692;1855956;2107235;2158028;2173986;2178642 A005P36;A008L08;ITIH4__6481;PMC117798P1;PMC117798P10;PMC117798P11;PMC117798P12;PMC117798P13;PMC117798P14;PMC117798P15;PMC117798P16;PMC117798P17;PMC117798P18;PMC117798P19;PMC117798P2;PMC117798P20;PMC117798P21;PMC117798P22;PMC117798P23;PMC117798P24;PMC117798P25;PMC117798P3;PMC117798P4;PMC117798P5;PMC117798P6;PMC117798P7;PMC117798P8;PMC117798P9;RH36516;RH93187;SHGC-53936;SHGC-84788 DKFZp686G21125;GP120;H4P;IHRP;ITI-HC4;ITIHL1;PK-120;PK120 ITI heavy chain H4;ITI-HC4;OTTHUMP00000197120;OTTHUMP00000197121;OTTHUMP00000213834;OTTHUMP00000213869;PK-120;gp120;inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein);inter-alpha-inhibitor heavy chain 4;inter-alpha-trypsin inhibitor family heavy chain-related protein;inter-alpha-trypsin inhibitor heavy chain H4;inter-alpha-trypsin inhibitor, heavy chain-like, 1;inter-alpha-trypsin inhibitor, heavy chain-related protein;plasma kallikrein sensitive glycoprotein 120;plasma kallikrein-sensitive glycoprotein 120 APPROVED protein-coding ENSG00000055955 6169 02781 143890;600564 REVIEWED 732422 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] 3 3 p21.1 52803824 52818065 + 52828784 52843025 + 1580863;6480464 16335952;14702039;12477932;11807786;11716497;10893227;10567446;10100603;10037773;9756925;9359851;8125298;7681778;7522574;2476436;2465147;16344560;2446322;1898736;1385302;14718574;17898697;17211523;14744536;20515073;22610502;21926972;21926974;21988832;23453885 3699 E7ET33;Q06033 ABBA01024498;AC006254;AI683095;AK122858;AK222757;AK223483;AK298450;AMYH01013188;BC107604;BC107605;BC107814;BX448552;BX495022;CH471055;DA370870;NM_002217;X14690;X67055;X99854 AAI07605;AAI07606;AAI07815;BAD96477;BAD97203;BAG60666;CAA32821;CAA47439;CAC79611;EAW65262;EAW65263;NP_002208;Q06033 Hs.76716 1741443;2140723;2165355;5111963 G43522;GDB:181213;RH48935;WI-12128 H3P ITI heavy chain H3;ITI-HC3;OTTHUMP00000213735;OTTHUMP00000213736;SHAP;inter-alpha (globulin) inhibitor H3;inter-alpha (globulin) inhibitor, H3 polypeptide;inter-alpha-inhibitor heavy chain 3;inter-alpha-trypsin inhibitor heavy chain H3;pre-alpha (globulin) inhibitor, H3 polypeptide;pre-alpha-inhibitor, heavy chain 3;serum-derived hyaluronan-associated protein APPROVED protein-coding ENSG00000162267 6168 00891 146650 VALIDATED 5133404 ITM2BP1 integral membrane protein 2B pseudogene 1 17 17 22801434 22802112 - 25939599 25940277 - 100420308 ABBA01015068;AC015688;AMYH01008275;NG_026163 HsT33912;ITM2BP APPROVED pseudo 20919 INFERRED 1606774 ITIH5 inter-alpha-trypsin inhibitor heavy chain family, member 5 This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 10 10 10 p14 7527158 7634731 - 7641641 7748940 - 7601232 7708961 - 6480464 21852814;18810445;17653090;16303743;14744536;14702039;12975309;12477932;11853319;16344560;16385451;20200953;20379614;18226209;19809427;22990118;22616691 80760 C9J2H1;G5E9D8;H7C5A6;J3KQ60;Q96JW9;Q96K70 AB075833;ABBA01034737;ABBA01034738;ABBA01034739;AF318347;AK027375;AK027547;AK027831;AK027849;AK075381;AL079707;AL158044;AL355374;AL833203;AMYH01002011;AMYH01002012;AY238437;AY358426;BC004282;BC050649;BC069714;BC136439;BC142961;BE898209;BQ183379;CH471072;CR627109;DA246953;DA833541;DA839345;DB079183;NM_001001851;NM_030569;NM_032817 AAI67770;AAL55854;AAO49812;AAQ88792;BAB55070;BAB55397;BAB55409;BAB85539;CAH10363;EAW86379;EAW86380;EAW86381;EAW86382;EAW86383;NP_001001851;NP_085046;NP_116206;Q86UX2 Hs.498586;Hs.732936 1779340;1781972;1782180;2184030;5015961;5024761;5037552;5109281 D15S1477;D1S1425;D8S2279;RH36905;SHGC-142688;SHGC-153339;SHGC-156068;STS-N26407 DKFZp686F0145;ITI-HC5;MGC10848 ITI heavy chain H5;ITI-HC5;OTTHUMP00000019062;OTTHUMP00000019064;inter-alpha (globulin) inhibitor H5;inter-alpha trypsin inhibitor heavy chain precursor 5;inter-alpha-inhibitor heavy chain 5;inter-alpha-trypsin inhibitor heavy chain H5 APPROVED protein-coding ENSG00000123243 21449 07865;13747 609783 REVIEWED 1353033 ITLN2 intelectin 2 1 1 1 q22-q23 133983011 133992784 - 159181440 159191213 - 160914816 160924589 - 1580863 18029348;12975309;12477932;11181563;19913121;20628086;20682687 142683 Q17RR2;Q8WWU7 ABBA01016608;AL354714;AL591806;AMYH01001454;AY065973;AY358905;BC117225;BC143339;BC143341;CH471121;NM_080878 AAI17226;AAI43342;AAL58074;AAQ89264;ADR82947;EAW52685;NP_543154;Q8WWU7 Hs.385631 HL-2;HL2 OTTHUMP00000027883;endothelial lectin HL-2;intelectin-2 protein-coding ENSG00000158764 20599 17166 609874 VALIDATED 1323169 ITK IL2-inducible T-cell kinase This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008] 5 5 q31-q32 156540485 156614687 + 156607907 156682109 + 1580863;6480464;6484113;6907045;7240710 22289921;8364206;11048639;17652306;19240061;19222422;18443296;18322190;17897671;17724684;17237383;17192257;17060314;16931156;15761153;16159638;15489334;15184383;15144186;12573241;12477932;12445832;12186560;12163161;11830645;11598012;11581171;11437596;10958690;10636929;10587356;10586033;10556826;10506192;10048424;10022833;9312162;8992971;8985255;8810341;8630736;8629002;8504851;7829087;7567982;8892607;15388330;9677430;12190313;19425169;19523959;19535334;19701889;19714314;19717557;19807924;20439541;20457812;20305788;20098747;21280324;21368711;21323647;22974441;20596523;21725281;22745667;23293025;21674762;22449075;22302878;18596081;16273093;18067320;22939624;23260110;20842205;22505724;22829599 3702 E5RFR5;E5RJY4;Q08881 AB209622;ABBA01044272;ABBA01044273;AC010609;AK303609;AK311654;AK312846;AMYH01015744;BC109077;BC109078;BX538196;CH471062;D13720;NG_016276;NM_005546 AAI09078;AAI09079;BAA02873;BAD92859;BAG35699;BAG64622;CAD98063;EAW61608;NP_005537;Q08881 Hs.558348 2120646;5020948 G35510;RH68205 EMT;LPFS1;LYK;MGC126257;MGC126258;PSCTK2 IL-2-inducible T cell kinase;IL-2-inducible T-cell kinase;OTTHUMP00000160737;T-cell-specific kinase;homolog of mouse T-cell itk/tsk;interleukin-2-inducible T cell kinase;interleukin-2-inducible T-cell kinase;kinase EMT;tyrosine-protein kinase ITK/TSK;tyrosine-protein kinase LYK APPROVED protein-coding ENSG00000113263 6171 01746 186973;613011 REVIEWED 1348492 ITPK1-AS1 ITPK1 antisense RNA 1 14 14 14 q32.12 73587935 73592635 + 92603550 92608250 + 93533797 93538497 + 6480464 319085 ABBA01030443;AK024887;AL117192;AMYH01005963;NR_002808 Hs.612888 C14orf85;ITPK1-AS;ITPK1AS;NCRNA00203 APPROVED miscrna ENSG00000258730 20132 VALIDATED 1346201 ITLN1 intelectin 1 (galactofuranose binding) 1 1 q21.3 159112954 159121584 - 160846330 160854960 - 1580863;6480464 22222234;21102463;16531507;19179460;19000584;18832735;18587394;18174521;17329619;17311679;17295929;16386808;16261254;15777968;15489334;14720597;14702039;12975309;12477932;11747454;11313366;11181563;8125298;19913121;20628086;20682687;21374544;21514279;20488498;20129687;22277902;19665576;20852028;20823688;17207965;19760754;21072187;20014019;20473688;22801013;22842465;22721676;23072466;22952622;21602837;21497934;21750093;22083213;21720428;22081609;21865408;21082206;22032341;21814208;21925659;21935388;22108456;21442174;22647378;22554771;23128233;23178529;23303213;22768319 55600 Q5IWS5;Q8WWA0 AB036706;ABBA01016608;AF271386;AK000029;AK222533;AL354714;AMYH01001453;AY065972;AY157361;AY157362;AY358359;AY549722;AY619691;AY619692;BC020664;CH471121;CR457224;NM_017625 AAH20664;AAL58073;AAM20741;AAO17800;AAO17801;AAQ88725;AAS49907;AAU88047;AAU88048;ACE87013;ACE87701;ADQ32186;BAA90893;BAA96094;BAD96253;CAG33505;EAW52688;EAW52689;EAW52690;NP_060095;Q8WWA0 Hs.50813 2134638 SHGC-56818 FLJ20022;HL-1;HL1;INTL;ITLN;LFR;hIntL;omentin ITLN-1;OTTHUMP00000027882;endothelial lectin HL-1;galactofuranose-binding lectin;intelectin-1;intestinal lactoferrin receptor protein-coding ENSG00000179914 18259 17165 609873 VALIDATED 1354301 ITM2A integral membrane protein 2A This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] X X X q13.3-Xq21.2 78856181 78863347 - 78502537 78509703 - 78615881 78623049 - 1580863;6480464 10432285;9892734;9653160;8702637;8570611;8125298;18029348;18391951;15772651;15489334;12975309;12477932;11042152;15983050;16344560;19541402;21906983;22505724 9452 O43736;Q6IBC9 AB209310;ABBA01030198;AF038953;AK223327;AK303238;AK313154;AL009028;AL021786;AMYH01022638;AY359051;BC010511;BC034485;BC040437;BG506587;BM561934;CH471104;CR456875;DA365726;NG_016412;NM_001171581;NM_004867;U38439 AAC39867;AAH40437;AAQ89410;ABZ92512;BAD92547;BAD97047;BAG35972;BAG64324;CAG33156;EAW98590;EAW98591;NP_001165052;NP_004858;O43736 Hs.17109 1702974;5022800;5096435 DXS346;ITM2A;WI-20932 BRICD2A;E25A BRICHOS domain containing 2A;OTTHUMP00000023601;integral membrane protein 2A APPROVED protein-coding ENSG00000078596 6173 02200 300222 REVIEWED 6481342 ITPKB-AS1 ITPKB antisense RNA 1 100873994 AL365444 APPROVED miscrna 40312 5132519 ITPKB-IT1 ITPKB intronic transcript 1 (non-protein coding) 1 1 q42.13 200035260 200053686 - 226844343 226862769 - 22589738 100506443 ABBA01009634;AL365444;AMYH01001779;BI116225;BI906918;NR_103784;XR_110844;XR_112015;XR_171253 Hs.664293 2114471 SHGC-56734 miscrna 41349 VALIDATED 1353059 ITM2B integral membrane protein 2B Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009] 13 13 q14.3 47705309 47734228 + 48807274 48836232 + 1358403;1580863;6480464;7240710 11159188 10391242;19366692;18524908;18282158;17965014;16612984;16344560;16027166;15983050;15968464;15489334;14656991;14586629;12903036;12477932;12196136;12082633;10931946;10781099;9795190;5466275;19072909;19849849;20036644;18029348;21048150;18440095;20600910;21587206;21875946;21752865;19748705;10526337;19114711;21873424;20972266;21139048;21890473;21906983;22194595;21841249;22053931;22190034;22505724 9445 Q5W0A2;Q5W0A3;Q9Y287 ABBA01051004;AF086918;AF092128;AF136973;AF152462;AF246221;AK000503;AK027411;AK130048;AL139322;AMYH01005101;AY341247;BC000554;BC016148;BC018053;BT006863;CH471075;DA087198;NG_013069;NM_021999 AAD40370;AAD45280;AAF66130;AAG49434;AAH00554;AAH16148;AAP35509;AAP88930;AAP97148;ABM84685;ABM92208;BAA91210;EAX08788;EAX08789;EAX08790;EAX08791;NP_068839;Q9Y287 Hs.643683 1342411;1644350;1651491;1736338;2165986;2177040;2177577;5109753 A002O26;D13S1155;D13S164;D13S841E;D13S864E;RH44653;RH44780;SHGC-34192 ABRI;BRI;BRI2;BRICD2B;E25B;E3-16;FBD;imBRI2 ABri/ADan amyloid peptide;BRICHOS domain containing 2B;OTTHUMP00000018394;OTTHUMP00000018395;immature BRI2;integral membrane protein 2B;transmembrane protein BRI APPROVED protein-coding ENSG00000136156 6174 04878 117300;176500;603904 REVIEWED 1312967 ITPK1 inositol-tetrakisphosphate 1-kinase 14 14 q31 92475960 92651980 - 93403259 93582263 - 1580863;6480464;6907045 8662638;17616525;16189514;15837423;15762844;15489334;12925536;12477932;12324474;11909533;11533064;11042108;19724895;19851296;20198315;20379614;22928859;23472165;22308441;23408906;22139419 3705 G3V3C0;G3V4M9;G3V588;G3V5A3;H0YJE5;Q13572 AA770154;ABBA01030441;ABBA01030442;ABBA01030443;AF279372;AK293515;AL110118;AL117192;AMYH01005963;AMYH01005964;AY129028;BC003622;BC007428;BC018192;BC037305;BQ434653;BX420122;CB997740;CH471061;NM_001142593;NM_001142594;NM_014216;U51336 AAC50483;AAG44835;AAH03622;AAH07428;AAH18192;AAH37305;AAM98771;ABM82360;ABM85535;BAG56998;EAW81507;EAW81508;EAW81509;EAW81510;EAW81511;EAW81512;EAW81513;NP_001136065;NP_001136066;NP_055031;Q13572 Hs.308122 1647563;1648805;1652601;1658731;1673600;1851286;5022200;5022450;5037552 D10S275;D14S688E;D8S2279;G17828;IB3705;L18426;RH11187;SHGC-31416;WI-22730 ITRPK1 OTTHUMP00000245496;OTTHUMP00000245497;OTTHUMP00000245498;OTTHUMP00000245499;OTTHUMP00000245668;inositol 1,3,4-triphosphate 5/6 kinase;inositol 1,3,4-trisphosphate 5/6 kinase;inositol 1,3,4-trisphosphate 5/6-kinase;inositol-tetrakisphosphate 1-kinase;inositol-triphosphate 5/6-kinase;ins(1,3,4)P(3) 5/6-kinase APPROVED protein-coding ENSG00000100605 6177 03501 601838 VALIDATED 6908152 ITPR1-AS1 ITPR1 antisense RNA 1 (head to head) 3 4532553 4534824 - 100996539 ABBA01020470;AC024168;AMYH01012948;XR_158990;XR_159403;XR_171361 Hs.190365 miscrna ENSG00000231249 44470 MODEL 732603 ITPKA inositol-trisphosphate 3-kinase A Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011] 15 15 q15.1 39573414 39583039 + 41786056 41795757 + 1580863;1300048;6480464;6907045 15350214;12747803;12477932;12202356;11468283;9374536;9155020;2824270;2175886;2167676;1660262;1330886;1654894;1847047;2176078;16525636;15489334;18498254;20022963;21792881;22558309;23128233 3706 C9JC74;P23677 ABBA01038404;AC087721;AMYH01006574;BC026331;CH471125;DB543073;NM_002220;X54938 AAH26331;CAA38700;EAW92493;NP_002211;P23677 Hs.2722 1670691;1678209;1778234;1847315;2161114;2166326;7186318 G06356;RH78391;RH80861;SHGC-30069;STS-T16315;STS-X54938 IP3-3KA;IP3KA IP3 3-kinase A;IP3K A;OTTHUMP00000160863;inositol 1,4,5-trisphosphate 3-kinase A;inositol-trisphosphate 3-kinase A;insP 3-kinase A APPROVED protein-coding ENSG00000137825 6178 00941 147521 REVIEWED 1319877 ITM2C integral membrane protein 2C 2 2 q37 231437865 231452207 + 231729621 231743963 + 1298632;1580863;6480464 9653160 11256614;16341674;16303743;16189514;15606899;15489334;14702039;14592447;12477932;11290423;11230166;11042152;8702637;8125298;7938007;7757816;7566098;16169070;17215244;18452648;19366692;19849849;19851296;20198315;19114711;21875946;21139048;21890473;21906983;22505724 81618 B8ZZM6;C9JG41;E7EUS6;F5H4I5;Q9BUP8 AB003629;ABBA01050110;AC012507;AF271781;AF272043;AK056321;AK075361;AK090975;AK126739;AK222697;AK295503;AK303199;AK307702;AL136603;AL713651;AMYH01011553;AY049777;BC002424;BC025742;BC050668;BC098563;BM842614;CH471063;CR457208;CR749389;D87062;NM_001012514;NM_001012516;NM_030926 AAF89492;AAG44792;AAH02424;AAH25742;AAH50668;AAH98563;AAL15434;ACE86530;ACE86970;ACE87209;ACE87232;ACE87660;ADQ33057;BAB46918;BAB46927;BAC03562;BAC11570;BAD96417;BAG51676;BAG58423;BAG64290;CAB66538;CAD28460;CAG33489;EAW70934;EAW70935;EAW70936;EAW70937;EAW70938;NP_001012532;NP_001012534;NP_112188;Q9NQX7 Hs.111577 1697518;1730297;1734918;1739291;2108175;2110975;5014051;5015619;5022200;5022651;7184701 D11S2921;D11S3114;D2S1689E;D2S186E;D2S1954E;D2S232E;D8S2278;ITM2C_8105;L18426;RH102262 BRI3;BRICD2C;E25;E25C;ITM3 BRICHOS domain containing 2C;OTTHUMP00000164292;OTTHUMP00000204434;OTTHUMP00000204435;OTTHUMP00000204436;OTTHUMP00000204437;OTTHUMP00000237323;cerebral protein 14;hRPC.1050_D_4;integral membrane protein 2C;integral membrane protein 3;transmembrane protein BRI3 protein-coding ENSG00000135916 6175 17167 609554 VALIDATED 1348154 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 20 20 p 3138056 3152506 + 3189514 3204516 + 1300199;1580863;6480464;6907045;7240710 11278832 17113761;12384777;19579612;19229528;19214663;19193698;19129747;18823306;18685564;18240903;18223458;17697198;17530705;17304144;17138556;17077483;16947783;16611274;16431304;16214825;15973722;15946879;15571266;15571265;15564886;15489334;15322947;15167706;12477932;12436200;11780052;1667585;1204209;487601;20637204;19631656;19682085;19858780;19914375;19956635;20045992;20173735;20308917;20393862;20547162;18029348;20977565;20930204;21659334;21246582;23126166;22554247;22939629;21139048;21817190;21890473;21906983;22060550;21612542;11752456;22272297;22384212;22430973;22585729;22225964;22189977;22052220;21703177;21963094;22460221;23000965;23301546;22505724;22584257 3704 Q9H3H8 AB062127;AB196785;ABBA01053815;ABBA01053816;ABBA01053817;ABBA01053818;AF026816;AF063607;AF219116;AF334680;AK309165;AL109976;AL121891;AMYH01011673;AV694278;BC010138;BF969192;BI115811;BM560812;BQ049090;CA425905;CH471133;EF199841;EF213026;NG_012093;NM_001267623;NM_033453;NM_181493;NR_052000;NR_052001;NR_052002 AAB82608;AAG43165;AAH10138;AAK21848;AAL57168;ABM87124;ABO70316;ABP01354;ABW03835;BAB93459;BAD81025;EAX10540;EAX10541;EAX10542;NP_001254552;NP_258412;NP_852470;Q9BY32 Hs.415299 1674737;2151225;2153082 RH64146;RH66161;STS-AA026396 C20orf37;HLC14-06-P;ITPase;My049;dJ794I6.3 ITPase;My049 protein;NTPase;OTTHUMP00000030094;OTTHUMP00000160459;inosine triphosphatase-A;inosine triphosphate pyrophosphatase;inosine triphosphate pyrophosphohydrolase;non-canonical purine NTP pyrophosphatase;non-standard purine NTP pyrophosphatase;nucleoside triphosphate diphosphatase;nucleoside-triphosphate diphosphatase;nucleoside-triphosphate pyrophosphatase;putative oncogene protein HLC14-06-P APPROVED protein-coding ENSG00000125877 6176 08856 147520;613850 REVIEWED 734228 ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 12 12 p11 26379552 26877398 - 26488285 26986131 - 1580863;6480464;6482794;6482791;6907045;7204693 17285299;17827064;19133301 8081734;19120137;10828023;18936250;18519826;18249094;17437169;16344560;15342556;14684825;11694504;11336651;11163362;11013462;10970773;10874040;10843712;9729462;19913121;20628086;11413485;11782428;1693919;19193627;19549843;19590686;20379614;20935629;20395455;21063100;19464757;21555518;21852551;21139048;21890473;21963094;23131553;22010048;20427533;21762810 3709 F5GYT5;H7C2X9;Q14571 AB012610;ABBA01068032;ABBA01068033;ABBA01068034;ABBA01068035;ABBA01068036;ABBA01068037;ABBA01068038;ABBA01068039;ABBA01068040;ABBA01068041;AC023051;AC023425;AC024093;AC024145;AC055720;AK307686;AK307712;AK310504;AL711179;AMYH01004346;AMYH01004347;AMYH01004348;AMYH01004349;AMYH01004350;AY429550;BP314401;BP364657;BU173910;BX495410;CH471094;D26350;DB144849;NM_002223 AAI72383;BAA05384;BAA33961;EAW96534;EAW96535;NP_002214;Q14571 Hs.512235 1682816;1712118;1713349;1719881;1725891;1725915;1725925;1725945;1725947;1726095;1726113;1726129;1729682;1746201;1746491;1750893;1752713;1757513;1765087;1777737;1779766;1780136;1782722;1782726;1788654;1854296;2157538;2160544;2160797;2162802;2184733;2190675 A002T05;D12S1185E;D12S1316;D12S1411;D12S2033;D12S68;D8S12886;G54108;G62257;G62258;G62314;G62315;G62345;G62356;G62357;G62414;G64652;G64665;GDB:314063;RH119528;RH123633;RH18155;RH44959;RH75375;SHGC-104649;SHGC-106565;SHGC-144889;SHGC-148617;SHGC-153742;SHGC-154442;SHGC-155573;SHGC-155639 IP3R2 IP3 receptor;IP3R 2;OTTHUMP00000240322;inositol 1,4,5-triphosphate receptor, type 2;inositol 1,4,5-trisphosphate receptor type 2;insP3R2;type 2 InsP3 receptor;type 2 inositol 1,4,5-trisphosphate receptor APPROVED protein-coding ENSG00000123104 6181 02536 600144 VALIDATED 1345351 ITPKC inositol-trisphosphate 3-kinase C This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009] 19 19 19 q13.1 38023433 38047190 + 45914848 45938605 + 41223008 41246765 + 1580863;6480464;7240710 18084290;15489334;12747803;12477932;11085927;16740130;20045869;20379614;20805785;22161096;21533171;22610085;22361738;22498790;21988832;23065250;22081228 80271 M0R2L7;Q96DU7 ABBA01040786;AC010412;AC020945;AC098782;AJ290975;AK024596;AMYH01009807;BC026903;BC060788;CH471126;D38169;NG_012970;NM_025194;Y11999 AAH60788;BAA22524;CAA72728;CAC40815;EAW56992;EAW56993;NP_079470;Q96DU7 Hs.515415 2110981;2176103 D19S387E;SHGC-31377 IP3-3KC;IP3KC IP3 3-kinase C;IP3K C;InsP 3 kinase C;inositol 1,4,5-trisphosphate 3-kinase C;inositol-trisphosphate 3-kinase C;insP 3-kinase C APPROVED protein-coding ENSG00000086544 14897 09400 606476;611775 REVIEWED 1344498 ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 10 10 10 q25.1 99812709 99834473 - 106061889 106083653 - 106071899 106093663 - 737633;6480464 12477932 16990268;14702039;12975309;11214970;16385451;20379614;17301879;22514627;20360068;21987572;10737800;16344560;17562024;8889549;21906983;21963094 85450 Q6Y2K9;Q8IWB1 AA085530;AB051541;ABBA01063087;AK055608;AK056526;AK094802;AL162742;AMYH01003034;AY189283;AY358776;BC040536;BC070108;BG007055;BQ014093;BX436559;CA446720;CH471066;DA416329;DA448042;DA832442;DB014126;DB114198;DB215055;DR763519;EL593529;HI574122;NM_001272012;NM_001272013;NM_033397 AAH40536;AAH70108;AAO86727;AAQ89136;BAB21845;BAB71204;CBX47550;EAW49596;EAW49597;NP_001258941;NP_001258942;NP_203755;Q8IWB1 Hs.523252;Hs.564022 1650494;1773751;2126387 RH47085;RH48888;STS-R64153 DANGER;KIAA1754;RP11-127L20.4;bA127L20;bA127L20.2 OTTHUMP00000020437;OTTHUMP00000020438;OTTHUMP00000020439;inositol 1,4,5-triphosphate receptor interacting protein;inositol 1,4,5-triphosphate receptor-interacting protein;inositol 1,4,5-trisphosphate receptor-interacting protein APPROVED protein-coding ENSG00000148841 29370 13892 REVIEWED 1345915 ITPKB inositol-trisphosphate 3-kinase B The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008] 1 1 q42.13 224886014 224991818 - 226819391 226926876 - 1580863;6480464;6907045 1654894;16740130;16710414;16354157;16189514;15489334;14702039;12747803;12477932;11846419;11104677;9374536;8889548;2176078;1330886;19913121;20628086;20379614;21148483;22446005;19322201;22589738 3707 B2R9J0;P27987 ABBA01009632;ABBA01009633;ABBA01009634;ABBA01009635;AJ242780;AK025304;AK095901;AK289700;AK313801;AL365444;AMYH01001779;AY513281;BC015009;BM972039;BQ434913;BQ434930;BX537724;CH471098;NM_002221;X57206;Y18024 AAH15009;AAT08034;ADZ15355;BAF82389;BAG36537;CAA40491;CAB65055;CAC40650;EAW69793;NP_002212;P27987 Hs.528087;Hs.659396 1660136;1739523;1762197;1762251;1851274;2114471;2127445;2131593;2132031;2151803;5037552;5099938 AU049926;D1S2232;D1S2415;D1S2498;D8S2279;RH18113;SHGC-146077;SHGC-146114;SHGC-30224;SHGC-56734;SHGC-76437;SHGC-76461 IP3-3KB;IP3K;IP3K-B;IP3KB;PIG37 IP3 3-kinase B;IP3K B;OTTHUMP00000035705;inositol 1,4,5-trisphosphate 3-kinase B;inositol-trisphosphate 3-kinase B;insP 3-kinase B;proliferation-inducing protein 37 APPROVED protein-coding ENSG00000143772 6179 00942 147522 REVIEWED 1352443 IV inversus situs, viscerum 7240710 8114 6185 270100 1603562 ITPRIPL1 inositol 1,4,5-trisphosphate receptor interacting protein-like 1 2 2 2 q11.2 91432249 91435278 + 96354873 96357806 + 96991062 96994091 + 6480464 16713569;15146197;12477932;21139048;21906983;22505724 150771 C9JNT4;F5H1L8;H7C0T2;Q6GPH6 ABBA01036591;AC021188;AI286121;AMYH01010722;BC034503;BC073153;BI829328;CN263466;CN282838;NM_001008949;NM_001163523;NM_001163524;NM_178495;R37132 AAH34503;AAH73153;NP_001008949;NP_001156995;NP_001156996;NP_848590;Q6GPH6 Hs.65009 1689787;5021972;5113359 RH79594;RH98992;contig_572885 KIAA1754L KIAA1754-like;OTTHUMP00000207484;OTTHUMP00000207485;OTTHUMP00000207487;inositol 1,4,5-triphosphate receptor interacting protein-like 1;inositol 1,4,5-triphosphate receptor-interacting protein-like 1;inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 APPROVED protein-coding ENSG00000198885 29371 13893 VALIDATED 732978 ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] 3 3 p26.1 4510034 4864286 + 4535032 4889524 + 1556475;1580863;6480870;6480871;6480683;6480678;6480675;6480875;6480464;6480685;5147661;6483009;6482816;6482821;6482813;6482797;6482794;6907045;7240710;7204693 8567977;20219645;20082166;21555639;21565852;21859719;19193873;21145001;21777465;9761455;10426189;8819138;7500836;16277603;17285299;19133301 19147678;18990696;18708078;18657507;18579805;18364356;18303017;18056410;17932120;17690304;17590087;17437169;17256008;17130290;17081983;16844763;16723353;16621795;16344560;16237118;16223735;16091359;15623527;15613488;15148151;15146197;15104175;15067324;14981189;14761954;14707143;14697242;14685260;14635192;14570872;12828938;12766172;12754204;12717445;12676536;12611586;12606542;12529267;12525476;12480535;12477932;12444087;12356940;12196544;12032348;11782428;11723290;11587548;11574661;11524429;11445634;11163362;10874040;10843712;10737800;10724174;10209024;9853757;9808459;9607712;9511764;9346894;8713116;8521476;8132598;8132516;7945203;7559486;16454711;11956293;14505576;16278292;1693919;7500840;15652484;7852357;19120137;8648241;10828023;11413485;19429868;19325567;21457704;17502376;22837378;16990611;20427533;11329013;16990268;19666470;19730683;19854836;20379614;8889548;9278393;20632399;20395455;19934645;20669319;20437544;20301536;21046461;21071436;22818390;21784978;22872699;21367767;20360068;21827915;19240031;21139048;21963094;17696464;22318346;21382133;22473799;23251661;22855054;22929228;22986007;21762810;22761998 3708 B4DER3;B4DGH1;B7ZMI3;E7EVP7;G5E9P1;Q14643;Q59H91 AB208868;ABBA01020466;ABBA01020467;ABBA01020468;ABBA01020469;ABBA01020470;AC018816;AC024168;AC069248;AC090944;AF009963;AI470158;AK293752;AK294594;AK296235;AK309981;AK311008;AL832689;AL832701;AMYH01012948;AW501800;BC144563;BG202086;BM695661;BQ006717;CH471055;CN431631;CV355426;D26070;DA060305;DB260851;DB544988;DB576768;L38019;L47220;NG_016144;NM_001099952;NM_001168272;NM_002222;S82269;U23850 AAB04947;AAD14386;AAI44564;BAA05065;BAD92105;BAG57174;BAG57782;BAG58955;EAW63908;EAW63909;EAW63910;EAW63911;EAW63912;EAW63913;EAW63914;EAW63915;NP_001093422;NP_001161744;NP_002213;Q14643 Hs.567295;Hs.715765 1299972;1336912;1338323;1341781;1666849;1697774;1701556;1716163;1763599;1770413;1770415;1776332;1779530;1784638;1854831;2111190;2113740;2117262;2150014;2173040 A001T36;D3S1304;D3S1560;D3S1750E;D3S3340;D3S3630;D8S1804;G19634;IB262;ITPR1;RH102411;RH104411;RH121104;RH68059;SHGC-112572;SHGC-147293;SHGC-153500;SHGC-50648;SHGC-59934;SHGC-76664 DKFZp313E1334;DKFZp313N1434;INSP3R1;IP3R;IP3R1;SCA15;SCA16;SCA29 IP3 receptor;IP3R 1;OTTHUMP00000207084;OTTHUMP00000207085;OTTHUMP00000209578;inositol 1,4,5-triphosphate receptor, type 1;inositol 1,4,5-trisphosphate receptor type 1;type 1 InsP3 receptor;type 1 inositol 1,4,5-trisphosphate receptor APPROVED protein-coding ENSG00000150995 6180 00925 117360;147265;606658 REVIEWED 1604732 ITPRIPL2 inositol 1,4,5-trisphosphate receptor interacting protein-like 2 16 16 16 p12.3 18273132 18280831 + 19032783 19040453 + 19125254 19132952 + 6480464 15146197;14702039;12477932 162073 H3BPC7;Q3MIP1 ABBA01028256;AC099518;AK026647;AK096327;AK097274;AMYH01007317;BC015343;BC101749;BC101751;BG116542;BX335323;BX338638;BX382445;CH471186;CN280807;NM_001034841;NR_028028 AAI01750;AAI01752;EAW50272;NP_001030013;Q3MIP1 Hs.530899 1676810;1684351;1698490;2178217;5022450;5022651;5109281 D10S275;D11S2921;D1S1425;RH102795;RH92544;RH98395;SHGC-52956 FLJ22994;MGC126798;MGC126800 inositol 1,4,5-triphosphate receptor interacting protein-like 2;inositol 1,4,5-triphosphate receptor-interacting protein-like 2;inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 APPROVED protein-coding ENSG00000205730 27257 18743 VALIDATED 733997 ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010] 6 6 p21 33697139 33772329 + 33589156 33664351 + 1580863;6480464;6907045;7240710;7204693 19133301 10611319;8288584;10828023;19193873;19052258;19050248;18826956;18586264;18544901;18539593;18434505;18340361;18275062;18219441;17496801;17437169;17081983;16960798;15623527;15051494;14707143;14702039;14685260;14666665;12606721;12477932;12032348;11524429;11290752;11163362;11149946;11035010;10980191;10874040;10843712;10692497;8388391;8385102;8081734;22939629;7559486;19913121;20618519;20628086;20660057;20558539;11413485;1693919;19553259;19706527;19730683;19851445;20103623;20379614;20395455;21501587;21075448;19596686;22100703;21139048;21890473;21906983;22552281;21900946;22586326;22082873;20881960;20427533;21762810;21875593;19553469 3710 A6H8K3;Q14573;Q59ES2 AB209739;ABBA01038158;ABBA01038159;ABBA01038160;ABBA01038161;AK093524;AL139044;AL832807;AMYH01016248;AMYH01016249;BC146646;CA430212;CH471081;D26351;HI574292;NG_027729;NM_002224;U01062 AAC50064;AAI46647;AAI72406;BAA05385;BAD92976;CBX47635;EAX03744;NP_002215;Q14573 Hs.65758 1657720;1660023;1694550;1714151;1757313;1796140;2115794;2131179;2156826;2178654;5113282 D6S2048;G43195;ITPR3_1317;RH119684;RH36260;RH46603;RH46652;RH65340;RH93741;SHGC-144717;STS-U01062 FLJ36205;IP3R;IP3R3 IP3 receptor;IP3R 3;Inositol 1,4,5-trisphosphate receptor type 3 (Type 3 inositol 1,4,5-trisphosphate receptor) (Type 3 InsP3 receptor) (IP3 receptor isoform 3) (InsP3R3);OTTHUMP00000016213;inositol 1,4,5-triphosphate receptor, type 3;inositol 1,4,5-trisphosphate receptor type 3;insP3R3;type 3 InsP3 receptor;type 3 inositol 1,4,5-trisphosphate receptor APPROVED protein-coding ENSG00000096433 6182 00926 147267;222100 REVIEWED 1353883 ITSN2 intersectin 2 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 pter-p25.1 24279239 24436881 - 24425735 24583397 - 1580863;6480464 9630982;15231747;17696407;17390067;16394100;16344560;15951569;15592455;15144186;14702039;12766152;12477932;12421765;11748279;11690630;10922467;10574462;9110174;8619474;16169070;22558309;16751776;20936779;19041431;19622753;19807924;19911011;21107309;21163940;20360068;20448150;21963094;23000965;23274495;21139048;21890473;21906983;22745667;18654987;20697350 50618 A6H8W8;E7EPJ2;F8W719;H7BZD4;H7C0L8;H7C3E2;Q9NZM3 AB033082;ABBA01045106;ABBA01045107;ABBA01045108;ABBA01045109;ABBA01045110;AC008073;AC009228;AF001630;AF038189;AF182198;AF182199;AF248540;AK000302;AK021545;AK025400;AK091859;AMYH01010164;AMYH01010165;AMYH01010166;AMYH01010167;BC020921;BC038963;BC146779;CH471053;DA382952;NG_029516;NM_006277;NM_019595;NM_147152;U61167 AAC50593;AAD00899;AAF59903;AAF59904;AAF63600;AAH20921;AAH38963;AAI46780;AAX93122;AAX93123;AAY14668;BAA86570;BAA91068;BAB13841;EAX00750;EAX00751;EAX00752;EAX00753;NP_006268;NP_062541;NP_671494;Q9NZM3 Hs.432562 1656739;1705620;1748543;1856074;2106529;2150660;2164213;2165476;5016711 A004Q30;ITSN2__6485;RH12863;RH46038;RH48788;SHGC-56423;SHGC-83312;STS-Z40060;WIAF-2115 KIAA1256;PRO2015;SH3D1B;SH3P18;SWA;SWAP OTTHUMP00000116038;OTTHUMP00000116039;OTTHUMP00000200718;SH3 domain protein 1B;SH3 domain-containing protein 1B;SH3P18-like WASP associated protein;SH3P18-like WASP-associated protein;intersectin-2 APPROVED protein-coding ENSG00000198399 6184 09193 604464 REVIEWED 735606 IVD isovaleryl-CoA dehydrogenase Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 q14-q15 38484978 38498355 + 40697686 40713512 + 1580863;1600039;1300048;6480464;6907045;7240710 2063866 3446585;17576084;16376132;15489334;14702039;12665801;12477932;11606439;10713113;10677295;9665741;9214289;9110174;8619474;8468053;8162068;7640268;6401713;2318964;1310317;20198315;19851296;20877624;20519759;20811636;21890473;21886157;20301313;23063737;22350545;22960500 3712 H0YKV0;H0YLC3;H0YN10;H0YNA4;H0YNT5;H7C4G6;J3KR54;P26440 ABBA01038452;AC013356;AF038317;AF038318;AF070531;AF191218;AI086669;AK022777;AK092168;AK122922;AK315296;AMYH01006560;AY826821;AY826822;AY826823;BC017202;BT007145;CH471125;M34192;NG_011986;NM_001159508;NM_002225 AAA52711;AAB92584;AAB92585;AAF20182;AAH17202;AAP35809;AAX18641;AAX18642;AAX18643;ABM83503;ABM86719;BAG37702;BAG53799;EAW92413;EAW92414;EAW92415;NP_001152980;NP_002216;P26440 Hs.513646 1680910;1686034;1723283;2111266;2119299;2134849;2174720;2177962;5015861;5015961;5016478;5020274;5020635;5020948;5022322;5037552;7185938 A001Y08;D10S16;D11S2560;D15S1477;D15S507;D15S725E;D7S3207;D8S2279;G35510;GDB:434012;L18441;RH122331;RH25512;RH44543;RH94005;STS-M34192 ACAD2;FLJ12715;FLJ34849 OTTHUMP00000160445;OTTHUMP00000213748;isovaleryl CoA dehydrogenase;isovaleryl Coenzyme A dehydrogenase;isovaleryl-CoA dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000128928 6186 09516 243500;607036 REVIEWED 1314662 IVL involucrin Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008] 1 1 q21 151147663 151150986 + 152881039 152884362 + 1580863;6480464 10908733;42494;1601889;16639001;19515043;18637039;18259765;18166499;18077140;17968567;17943181;17882273;17662274;17330131;17205062;16982614;16374477;16140218;15805105;15586248;15489334;15304097;15191537;15147942;15044435;15037572;12810719;12477932;12445200;12397374;12126624;11850802;11443109;9804813;9651377;9512462;9159190;9115270;8999895;8554386;8550612;8380829;8276421;7759510;2985954;2873896;2461365;19601998;19701759;20208004;22197495;22742591;22333115;21800051;21044950 3713 J3KPN6;P07476 ABBA01049427;AF085346;AK300492;AL162596;AMYH01001401;BC046391;BG679040;BM811601;JB025802;M13902;M13903;M17917;M17918;NG_033018;NM_005547;S52650;S80523;U23404;XM_003960264 AAA59186;AAH46391;BAG62206;CCV20019;NP_005538;P07476;XP_003960313 Hs.516439 1676424;1777734;2170886 RH18018;RH69071;RH80799 OTTHUMP00000014402;involucrin APPROVED protein-coding ENSG00000163207 6187 00931 147360 REVIEWED 737072 ITSN1 intersectin 1 (SH3 domain protein) The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008] 21 21 q22.1-q22.2 33936654 34183479 + 35014784 35261609 + 1580863;6480464;6484113 9799604;12006984;12812986;19356586;19166927;18692052;18539136;17405881;17140284;17081983;16914641;16903783;16874303;16442855;15302935;15203208;14702039;12970366;12960435;12477932;12389031;11690630;11584276;10922467;10830953;10777571;10716926;10482960;10373452;10072581;10064583;9813051;9630982;9465890;11381094;16169070;15256501;11744688;15719014;19777371;20659428;20936779;11756498;12376548;12787561;15231748;15824104;15834155;16696976;18029348;20946875;20842712;22558309;20493827;22939629;21712076;21876463;21900206;21139048;21890473;21503949;21129155;18654987;22745667;21628590;22750298;18067320;20448150;22266851;22648170;23000965 6453 A7Y322;A8CTX8;A8CTY3;A8DCP3;B4DTM2;C9J1A4;C9JQZ7;C9JXS9;E7ERJ0;E9PD98;F8W7U0;H0Y3G5;H0Y523;H0Y6W3;H0Y7J7;H7C3F1;H7C429;Q6J334;Q6PD56;Q9UNK1 ABBA01057354;ABBA01057355;ABBA01057356;ABBA01057357;ABBA01057358;ABBA01057359;ABBA01057360;ABBA01057361;ABBA01057362;AF064243;AF064244;AF064245;AF085873;AF114487;AF114488;AF180522;AI857585;AK027846;AK074554;AK075290;AK300274;AMYH01012211;AMYH01012212;AMYH01012213;AP000308;AP000309;AP000310;AP000311;AP000312;AP000313;AY138139;AY254341;AY340592;AY340593;AY603418;AY603419;AY605091;AY605092;AY639648;AY639649;AY639651;AY639652;AY639653;BC013578;BC020269;BC039036;BC058925;BC073744;BC116185;BC116186;BC117560;BX538175;CH471079;DQ340865;DQ386455;DQ679754;DQ679755;DQ679756;DQ679757;EU107386;EU117382;EU120733;EU120734;EU120735;EU120736;EU140799;EU140800;EU152331;EU191901;GU939616;GU939617;GU939621;NG_029504;NM_001001132;NM_003024;U61166 AAC50592;AAC78610;AAC78611;AAC80436;AAC80437;AAD29952;AAD29953;AAD53183;AAH39036;AAH58925;AAH73744;AAI16186;AAI16187;AAI17561;AAN11307;AAP13099;AAQ19991;AAQ19992;AAT28305;AAT28306;AAT36645;AAT36646;ABC69037;ABD72328;ABG74695;ABG74696;ABG74697;ABG74698;ABV03351;ABV21755;ABV24866;ABV24867;ABV24868;ABV24869;ABV58335;ABV58336;ABV69555;ABW71829;ADF97294;ADF97295;ADF97297;BAG62034;CAD98050;EAX09805;EAX09806;EAX09807;EAX09808;NP_001001132;NP_003015;Q15811 Hs.160324 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86926;REN86927;REN86928;REN86929;REN86930;REN86931;REN86932;REN86933;REN86934;REN86935;REN86936;REN86937;REN86938;REN86939;REN86940;REN86941;REN86942;REN86943;REN86944;REN86945;REN86946;REN86947;REN86948;REN86949;REN86950;REN86951;REN86952;REN86953;REN86954;REN86955;REN86956;REN86957;REN86958;REN86959;REN86960;REN86961;REN86962;REN86963;REN86964;REN86965;REN86966;REN86967;REN86968;REN86969;REN86970;REN86971;REN86972;REN86973;REN86974;REN86975;REN86976;REN86977;REN86978;REN86979;REN86980;REN86981;REN86982;REN86983;REN86984;REN86985;REN86986;REN86987;REN86988;REN86989;REN86990;REN86991;REN86992;REN86993;REN86994;REN86995;REN86996;REN86997;REN86998;REN86999;REN87000;REN87001;REN87002;REN87003;REN87004;REN87005;REN87006;REN87007;REN87008;REN87009;REN87010;REN87011;REN87012;REN87013;REN87014;REN87015;REN87016;REN87017;REN87018;REN87019;REN87020;REN87021;REN87022;REN87023;REN87024;REN87025;REN87026;REN87027;REN87028;REN87029;REN87030;REN87031;REN87032;REN87033;REN87034;REN87035;REN87036;REN87037;REN87038;REN87039;REN87040;REN87041;REN87042;REN87043;REN87044;REN87045;REN87046;REN87047;REN87048;REN87049;REN87050;REN87051;REN87052;REN87053;REN87054;REN87055;REN87056;REN87057;REN87058;REN87059;REN87060;REN87061;REN87062;REN87063;REN87064;REN87065;REN87066;REN87067;REN87068;REN87069;REN87070;REN87071;REN87072;REN87073;REN87074;REN87075;REN87076;REN87077;REN87078;REN87079;REN87080;REN87081;REN87082;REN87083;REN87084;REN87085;REN87086;REN87087;REN87088;REN87089;REN87090;REN87091;REN87092;REN87093;REN87094;REN87095;REN87096;REN87097;REN87098;REN87099;REN87100;REN87101;REN87102;RH104301;RH119211;RH122567;RH16546;RH80986;SHGC-170113;SHGC-170295;SHGC-170327;SHGC-37625;SHGC-51824;SHGC-51883;SHGC-6846;SHGC-7353;SHGC-87560;SHGC-87572;SHGC-87604;STS-F02358;STS-H50535;stSG607333;stSG607335;stSG607336;stSG607337;stSG607338;stSG607340;stSG607341;stSG607342;stSG607343;stSG607344;stSG607345;stSG607346;stSG607347;stSG607348;stSG607349;stSG607350;stSG607351;stSG607352;stSG607353;stSG607354;stSG607355;stSG607356;stSG607357;stSG607358;stSG607361;stSG607362;stSG607364;stSG607365;stSG607366;stSG607367;stSG607369;stSG607370;stSG607371;stSG607372;stSG607373;stSG607374;stSG607375;stSG607376;stSG607378;stSG607379;stSG607380;stSG607381;stSG607382;stSG607383;stSG607384;stSG607385;stSG607386;stSG607387;stSG607388;stSG607389;stSG607391;stSG607392;stSG607393;stSG607394;stSG607395;stSG607396;stSG607398;stSG607399;stSG607400;stSG607401;stSG607403;stSG607404;stSG607405;stSG607406;stSG607407;stSG607408;stSG607409;stSG607410;stSG607411;stSG607412;stSG607413;stSG607414;stSG607415;stSG607416;stSG607417;stSG607419;stSG607420;stSG607421;stSG607422;stSG607423;stSG607424;stSG607425;stSG607426;stSG607427;stSG607428;stSG607429;stSG607430;stSG607431;stSG607432;stSG607433;stSG607434;stSG607435;stSG607436;stSG607437;stSG607438;stSG607439;stSG607440;stSG607441;stSG607442;stSG607443;stSG607444;stSG607445;stSG607446;stSG607447;stSG607448;stSG607449;stSG607450;stSG607451;stSG607452;stSG607453;stSG607454;stSG607455;stSG607456;stSG607457;stSG607458;stSG607460;stSG607461;stSG607463;stSG607464;stSG607465;stSG607466;stSG607467;stSG607468;stSG607469;stSG607470;stSG607471;stSG607472;stSG607473;stSG607474;stSG607475;stSG607477;stSG607478;stSG607479;stSG607480;stSG607481;stSG607482;stSG607483;stSG607485;stSG607486;stSG607487;stSG607488;stSG607489;stSG607490;stSG607491;stSG607492;stSG607494;stSG607495;stSG607496;stSG607497;stSG607498;stSG607499;stSG607500;stSG607501;stSG607502;stSG607505;stSG607506;stSG607510;stSG607511;stSG607512;stSG607513;stSG607515;stSG607517;stSG607518;stSG607519;stSG607520;stSG607521;stSG607522;stSG607523;stSG607524;stSG607525;stSG607526;stSG607527 ITSN;MGC134948;MGC134949;SH3D1A;SH3P17 OTTHUMP00000067855;OTTHUMP00000067856;OTTHUMP00000067857;OTTHUMP00000194810;OTTHUMP00000194811;OTTHUMP00000194812;OTTHUMP00000206688;SH3 domain protein-1A;SH3 domain-containing protein 1A;Src homology 3 domain-containing protein;human intersectin-SH3 domain-containing protein SH3P17;intersectin 1 short form variant 3;intersectin 1 short form variant, 11;intersectin short variant 12;intersectin-1 APPROVED protein-coding ENSG00000205726 6183 03898 602442 REVIEWED 1351856 IZUMO3 IZUMO family member 3 9 9 9 p21.3 24465817 24468595 - 24533227 24536004 - 24543213 24545668 - 15164053;19658160;22957301 100129669 H7BZS5;Q5VZ72 ABBA01065151;AL162232;AMYH01019281;HY054657;HY236269;NM_001271706;XM_003846250;XM_003846712;XM_003960441 NP_001258635;Q5VZ72;XP_003846298;XP_003846760;XP_003960490 Hs.573530 C9orf134;bA20A20.1 IZUMO family member 3;chromosome 9 open reading frame 134;izumo sperm-egg fusion protein 3 APPROVED protein-coding ENSG00000205442 31421 VALIDATED 1349340 IZUMO4 IZUMO family member 4 19 19 19 p13.3 2031621 2034336 + 2047868 2050583 + 2096868 2099583 + 737633;6480464 12477932 17207965;22957301;15489334;12975309;19658160 113177 G5E9C9;Q1ZYL8 ABBA01002710;AC005328;AC005545;AK294083;AK301957;AMYH01009274;AW182303;AY358444;AY753639;BC010443;BC014609;BC040964;BI827974;BX378854;CH471139;DQ196309;DQ196310;DQ424900;NM_001031735;NM_001039846 AAC27671;AAC34213;AAH10443;AAH14609;AAQ88809;AAX09280;ABA28617;ABA28618;ABD83665;ADQ31651;BAG57424;BAG63371;EAW69419;EAW69420;EAW69421;NP_001026905;NP_001034935;Q1ZYL8 Hs.424049 C19orf36;IMAGE:4215339 IZUMO family member 4;OTTHUMP00000180601;OTTHUMP00000180602;hypothetical protein LOC113177;izumo sperm-egg fusion protein 4;putative SAMP14 binding protein variant 1;putative SAMP14 binding protein variant 2;sperm 22 kDa protein c113 APPROVED protein-coding ENSG00000099840 26950 12708 VALIDATED 1314824 IVNS1ABP influenza virus NS1A binding protein 1 1 1 q25.1-q31.1 158376215 158397156 - 183532143 183553084 - 185265520 185286461 - 6480464 9696811;17996313;16582008;14702039;12477932;11042152;10048485;9847309;16169070;20532202;19615732;20379614;22863883;21942715;21139048;21890473;23184937;22190034 10625 A8MVR0;H0Y5Y2;Q9Y480 AB020657;ABBA01027719;ABBA01027720;AF161553;AF205218;AJ012449;AK000931;AK001273;AK001625;AK001824;AK023020;AK023123;AK092912;AK093912;AK292431;AL078644;AL137640;AL356273;AMYH01001561;BC067739;BX648273;BX649183;CH471067;DQ443528;DQ443529;NM_006469 AAF29040;AAG43485;AAH67739;ABE03889;ABE03890;BAA74873;BAF85120;BAG50883;BAG51150;BAG52783;CAA10029;CAE46201;EAW91193;EAW91194;NP_006460;Q9Y6Y0 Hs.497183 1653162;1662954;1700290;1735226;1736630;1794558;2137032;2142580;2162108;2164672;2167192;5017570 D17S1473E;D1S1822E;D1S2378;D3S2893E;IVNS1ABP;NIB250;PMC31832P1;RH103763;SHGC-37348;SHGC-76027;SHGC-76046;SHGC-76054 DKFZp686K06216;FLARA3;FLJ10069;FLJ10411;FLJ10962;FLJ35593;FLJ36593;HSPC068;KIAA0850;KLHL39;ND1;NS-1;NS1-BP;NS1BP NCX downstream gene 1;NS1-binding protein;OTTHUMP00000033394;aryl hydrocarbon receptor-associated 3;aryl hydrocarbon receptor-associated protein 3;influenza virus NS1A-binding protein;kelch-like family member 39 protein-coding ENSG00000116679 16951 10004 609209 VALIDATED 1345868 IYD iodotyrosine deiodinase This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 6 6 q25.1 150731721 150767457 + 150690028 150725765 + 6480464;7240710 22535972;19043545;18765512;18434651;17322488;16910871;16316988;15489334;15289438;14702039;14574404;12477932;14671405;19436071;20298747;17207965;21870604 389434 C9JXJ9;F5H543;F6VN83;H7C0X6;Q7Z7D7 ABBA01025662;AI823392;AK129950;AL031010;AMYH01016743;AY259176;AY259177;AY424901;AY424902;AY957659;AY957660;AY957661;AY957662;BC056253;CH471051;NG_016007;NM_001164694;NM_001164695;NM_203395 AAH56253;AAP22072;AAP22073;AAR84259;AAR84260;AAY41465;AAY41466;AAY41467;AAY41468;ADQ32120;BAC85255;EAW47769;NP_001158166;NP_001158167;NP_981932;Q6PHW0 Hs.310225 1663173;1664875;1857895;5015861;5021872;5022651;5037552;5092668;7185938 A005O42;D10S16;D11S2921;D8S2279;G32253;RH36255;RH47932;sY3084 C6orf71;DEHAL1;TDH4;dJ422F24.1 IYD-1;OTTHUMP00000017973;OTTHUMP00000237263;OTTHUMP00000237264;OTTHUMP00000237265;OTTHUMP00000237266;OTTHUMP00000237267;chromosome 6 open reading frame 71;iodotyrosine dehalogenase 1 APPROVED protein-coding ENSG00000009765 21071 16668 274800;612025 REVIEWED 1606978 IZUMO2 IZUMO family member 2 19 19 19 q13.33 47705980 47716710 - 55347617 55358350 - 50655805 50666538 - 12975309;12477932;22957301;19658160 126123 M0QXA9;M0QZG1;M0R2L8;Q6UXV1 ABBA01068344;AC020906;AF479645;AK131024;AK307321;AMYH01009931;AY358196;BC029535;CH471135;HC006820;HC044823;NM_152358 AAH29535;AAQ05826;AAQ05827;AAQ88563;ABM81893;ABM85066;BAC85478;CBH19216;CBH30741;EAW71837;NP_689571;Q6UXV1 Hs.414175 5015619;5020274;5022588 D11S3114;D5S1597E;L18441 C19orf41;MGC33947;PLAL6978;PRO21961;SCRL IZUMO family member 2;OTTHUMP00000082695;hypothetical protein LOC126123;izumo sperm-egg fusion protein 2 APPROVED protein-coding ENSG00000161652 28518 14578 VALIDATED 1604340 IWS1 IWS1 homolog (S. cerevisiae) 2 2 2 q14.3 121549354 121595041 - 127954860 128000514 - 128238383 128284087 - 6480464 19141475;17234882;17184735;17081983;16964243;16648364;16565220;16344560;15489334;15302935;14702039;12477932;19615732;22863883;22939629;19471022;21693764;21890473 55677 B4DJ84;B8ZZB6;H7C0U1;Q96ST2 ABBA01040203;ABBA01040204;AC010976;AI638093;AK000868;AK001717;AK027561;AK056881;AK294669;AK295970;AK296848;AK309006;AL834178;AMYH01011018;AMYH01011019;BC017012;BC065279;BC110536;BC110537;CH471103;DA268882;NM_017969 AAH17012;AAH65279;AAI10537;AAI10538;BAA91402;BAA91858;BAB55198;BAB71301;BAG57836;BAG58746;BAG59414;CAD38875;EAW95321;NP_060439;Q96ST2 Hs.469879 1341580;1661391;1734890;1784042;2121333;2137492;2147209;2147211;2164957;2180878;2186967;5491573 A003B14;A004R45;A006H45;D2S1606E;D2S1660E;D2S95;G20826;MARC_21654-21655:1033408890:1;RH11529;RH66040;SHGC-144892;SHGC-32141 DKFZp761G0123;FLJ10006;FLJ14655;FLJ32319;MGC126375;MGC126376 IWS1-like protein;OTTHUMP00000162262;interacts with Spt6;protein IWS1 homolog protein-coding ENSG00000163166 25467 07639 VALIDATED 1604485 IZUMO1 izumo sperm-egg fusion 1 The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 46110237 46116258 - 53935957 53941978 - 49244145 49250166 - 6480464 15759005;18952059;18082733;17047026;15489334;12477932;22957301;19658160;21060863;21926972;23279005;23128233;23372041 284359 M0R0B8;Q8IYV9 AB195682;ABBA01032968;AC009002;AK301750;AMYH01009908;AY552609;AY552610;BC034769;BC050460;CH471177;NM_182575 AAH34769;AAS59145;AAS59146;ABM84288;ABM85461;ABM87766;ABW03608;BAD91012;BAG63212;EAW52395;EAW52396;EAW52397;EAW52398;NP_872381;Q8IYV9 Hs.400688 1795870;2177866;5037552;5127927;7186908 D19S596;D8S2279;FUT1_318;RH78937;SHGC-152310 FLJ61440;IZUMO;MGC34799 OBF;izumo sperm-egg fusion protein 1;oocyte binding/fusion factor;sperm-specific protein Izumo APPROVED protein-coding ENSG00000182264 28539 14589 609278 VALIDATED 733495 JAG2 jagged 2 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q32 104679121 104706206 - 105607318 105635161 - 1580863;69864;1304492;2302204;6480464;6484113;6907045 8948600;10079256;17761886 9315665;10383933;16713569;11056013;10080181;11549580;11700865;10910909;19417136;19054571;19049519;18439488;16899352;16327884;15292061;12551931;12477932;11006133;10958687;10662552;9486542;20572854;20634891;20672350;20133585;20237496;20040020;15920166;21048031;20819128;23074278;21372153;21402725;21602525;21892607;21078624;21499308;22341562;10524757;22030773 3714 Q59FT9;Q9Y219 AA775404;AB209370;ABBA01008859;ABBA01008860;AF003521;AF020201;AF029778;AF029779;AF111170;AI276672;AJ712299;AL512356;AMYH01006075;AMYH01006076;AMYH01006077;BC032053;BX105691;CH471061;NM_002226;NM_145159;U69180;Y14330 AAB61285;AAB71189;AAB84215;AAB84216;AAD15562;BAD92607;CAA74706;EAW81899;EAW81900;EAW81901;NP_002217;NP_660142;Q9Y219 Hs.433445 HJ2;SER2 OTTHUMP00000178737;OTTHUMP00000178738;protein jagged-2 APPROVED protein-coding ENSG00000184916 6189 03981 602570 REVIEWED 1342770 JAGN1 jagunal homolog 1 (Drosophila) 3 3 3 p25.2 9867730 9871500 + 9907272 9911029 + 9932271 9936033 + 737633;6480464 12477932 16303743;15342556;14702039;8125298;21832049;21139048 84522 Q8N5M9 ABBA01020397;AC018809;AF212230;AK027508;AK074760;AK225756;AMYH01012965;BC008507;BC032101;BP262753;CH471055;CQ782694;NM_032492 AAH32101;AAK14916;ABM83207;ABM86407;BAB55163;BAC11188;CAF85930;EAW64015;NP_115881;Q8N5M9 Hs.24054 2128653 A004P23 FLJ14602;GL009 OTTHUMP00000158646;protein jagunal homolog 1 protein-coding ENSG00000171135 26926 13749 VALIDATED 6767055 JAKMIP2-AS1 JAKMIP2 antisense RNA 1 5 q32 146939557 147041572 + 14702039 153469 ABBA01026323;AC011370;AC126775;AK027578;AMYH01015692;NR_038902 Hs.744639 1338306;1666119;1679714;1697964;1735538;1757319;1856720;2145432;2157346 D5S1387;D5S1668E;D5S1764;D5S2490;D5S2847;RH102511;RH80687;SHGC-144720;WI-20658 APPROVED miscrna 27203 VALIDATED 1353888 JAG1 jagged 1 The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008] 20 20 p12.1-p11.23 10566334 10602590 - 10618332 10654694 - 69863;1580651;1582344;1582342;1580863;1334443;2302204;2299152;6480464;6482240;6482232;6482233;6482239;6482234;6482236;6482237;6482238;6482230;6482235;6484113;6907045;7240710 7697721;11745040;11152664;12022040;15057910;17761886;18691378;16934875;21714972;20805994;18354251;19265135;17114010;16875832;21220737;21330605;17947672 9268641;11067884;10679295;8955070;9207788;10329626;12107827;8923452;11549580;11427524;19542446;19453261;19430482;19398721;19393188;19204726;19181211;19150886;19150223;18784255;18632624;18593716;18266235;18192230;18079963;18060036;17990101;17984306;17822320;17720887;17661408;17507991;17368936;17359939;22296176;22348356;17301032;16823852;16791277;16575836;16403414;16307184;16013021;15919944;15905075;15781650;15712272;15489334;15466172;15358557;15280477;15258909;15254769;14769803;14726396;14714274;12842995;12826675;12684674;12649809;12497640;12496248;12482954;12477932;12442286;12427653;12370358;12357247;12297837;12036964;11999354;11964309;11780052;11180599;11157803;11139247;11058898;11006133;10958687;10551863;10533065;10220506;10079256;9707552;9585603;9462510;9207787;11346656;16023595;20554499;20040020;19915977;20870935;18563556;19586525;19603167;19728763;19780835;19816565;19935714;19948535;20038814;20096396;20237496;20331378;20437614;21103979;20580881;20052673;21199807;20800871;20819075;19913121;20628086;20634891;20683201;20833210;20301450;20586101;20819128;20829885;21062756;21266409;20517681;21348951;22871495;23086448;19682396;21810559;18077452;20720151;21757656;21637926;21602525;21685392;22204979;21145176;21820430;20953350;22487239;21639801;21753153;23339193;21890473;21906983;21893051;22040217;22080880;22526456;22618231;21911304;22020917;22357466;21909110;21909115;20812035;22405927;22504420;22465068;23300864;22847978;21866461;21752016;23375636 182 B4DYR1;P78504;Q99740 ABBA01053936;AF003837;AF028593;AI268246;AK302554;AK312722;AL035456;AMYH01011710;AMYH01011711;BC028007;BC098393;BC126205;BC126207;BF056748;CH471133;NG_007496;NM_000214;U61276;U73936;U77720;U77914 AAB39007;AAB84053;AAC50909;AAC51323;AAC51731;AAC52020;AAH98393;AAI26206;AAI26208;ADR83289;BAG35596;BAG63823;EAX10341;NP_000205;P78504 Hs.224012;Hs.626544 1718807;1775205;1791498;1796142;2111762;2126579;2129007;2133250;2143967;2146999;2176778 D20S1091;JAG1_1238;PMC111189P2;RH123107;SHGC-33818;STS-T96855;WI-12707;WI-17032;WI-8071;Z94359;Z94625 AGS;AHD;AWS;CD339;HJ1;JAGL1;MGC104644 Alagille syndrome;OTTHUMP00000030278;jagged 1 (Alagille syndrome);jagged1;protein jagged-1 APPROVED protein-coding ENSG00000101384 6188 03562 118450;187500;601920 REVIEWED 69102 JAK1 Janus kinase 1 Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second phosphotransferase domain bears all the hallmarks of a protein kinase, although its structure differs significantly from that of the PTK and threonine/serine kinase family members. JAK1 is a large, widely expressed membrane-associated phosphoprotein. JAK1 is involved in the interferon-alpha/beta and -gamma signal transduction pathways. The reciprocal interdependence between JAK1 and TYK2 activities in the interferon-alpha pathway, and between JAK1 and JAK2 in the interferon-gamma pathway, may reflect a requirement for these kinases in the correct assembly of interferon receptor complexes. These kinases couple cytokine ligand binding to tyrosine phosphorylation of various known signaling proteins and of a unique family of transcription factors termed the signal transducers and activators of transcription, or STATs. [provided by RefSeq, Jul 2008] 1 1 p32.3-p31.3 65071494 65204775 - 65298906 65432187 - 1625126;1580863;1357942;1357935;5686839;6480464;5688379;6484113;6907045 17312100;12884916;12039028;21881215;21115385 12775419;12777975;12620806;12559972;12551917;12477932;12447867;12374810;12223098;12200137;12133952;12130510;11801527;11786531;11742534;11722592;11557047;11527382;11468294;11418623;11201744;11163768;11162588;11133764;11016959;10993906;10982844;10899310;10875931;10825200;10702271;10586060;10531356;10433356;9774657;9566874;9553136;9516124;9492017;9452495;9446616;9417082;9178903;9020188;8995399;8756628;8702790;8700888;8536716;8272872;8247543;8232552;7973659;7698020;7589562;7512720;7499365;1848670;1581631;1373877;1213395;21151131;22542455;16280321;10502458;19559055;19470474;19464057;19457567;19434718;19258923;19239328;19180571;19176360;19139102;19017763;18948751;18789440;18787531;18566411;18559588;18430728;18413761;18362173;18320073;18270328;18266209;18178840;18160671;17982039;17951261;17703412;17686504;17641294;17433443;17158029;16767694;16239216;16102578;15988755;15923602;15894543;15883164;15194700;12960323;9510175;12403768;12089333;9388212;7973658;10809230;10954736;9047382;7629131;9774693;11751884;12734330;17353931;11036942;15277531;15063116;16710296;20368117;19913121;20588308;20628086;20697856;8493579;20868368;20974963;10037796;10707961;10856136;10918587;11160325;11294897;11350938;11751854;11839738;11909529;11940572;12163560;12244095;12456798;12576423;12626508;12637327;12738762;12817007;14551213;14674010;14978237;15322115;15526032;15588985;15996891;17290288;18390202;19255588;19604093;19730683;19764985;19802007;19887489;19900094;20052595;20065083;20072651;20128689;20167706;20237496;20379614;20503287;7543024;7657660;7690989;8612580;8626374;8647212;8657151;9133424;9484840;9520455;9597132;18787400;20139093;16474838;20980339;21048031;21051030;20103601;7759950;22406175;11694501;7510216;21277633;21160051;21220115;21325207;10777583;9651359;23084401;23184937;8041779;8609418;21439476;19167051;21420464;21679692;21216930;21551237;21827323;22084247;22226123;21537335;21840487;21880637;22301404;22368272;12207328;23185365;21139048;21861134;21890473;21903422;21906983;21949722;21965659;21987572;23402259;23611997;21689637;22427350;22684105;21880948;10373548;12242343;15284024;16273093;20467438;21963094;22859983;22901011;22939624;23000965;23246001;12549820;18187620;18271526;18976975;22505724;22558273;22661199;22844427 3716 P23458;Q8IV82 AB209057;AB219242;ABBA01074552;ABBA01074553;ABBA01074554;AC093427;AK128375;AK314257;AL590436;AL606517;AMYH01000682;BC009079;BC023604;BC062431;BC111401;BC132729;BX647675;BX648044;CH471059;HC002094;M64174;NG_023402;NM_002227 AAA36527;AAH23604;AAH62431;AAI11402;AAI32730;BAD92294;BAE02826;CBG22571;EAX06547;EAX06548;NP_002218;P23458 Hs.207538 1341724;1656313;1692336;1693120;1719587;1771673;2130274;2175041 AL033825;AL034288;D1S2825;G22293;RH123697;SHGC-74938;SHGC-74942;SHGC-74955 JAK1A;JAK1B;JTK3 JAK-1;Janus kinase 1 (a protein tyrosine kinase);OTTHUMP00000010896;tyrosine-protein kinase JAK1 APPROVED protein-coding ENSG00000162434 6190 00992 147795 REVIEWED 737593 JAK3 Janus kinase 3 The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008] 19 19 p13.1 17797961 17819800 - 17935591 17958841 - 1600254;1625126;1580863;1357939;1357935;6480464;6484113;6907045;7240710 7659163;17312100;12032773;12039028 9045636;19470474;19464057;19385051;19282076;19248116;19141860;19139084;19017763;19012493;18755984;18676680;18633131;18559588;18397343;18297515;18250158;17938255;17537734;17456055;17252020;17081797;16932349;16843266;16825495;16790275;16763206;16515549;16344560;16308103;16192633;22130498;16153455;15831699;15611059;15592455;15584866;15121872;15067075;15057824;14726805;14615376;14593182;12794134;12777975;12613524;12559972;12477932;12351625;12207328;12200137;12145687;11850821;11668621;11668610;11557047;11349123;11278738;11133764;10982185;10899310;10825200;10733938;10531356;10506573;10037026;9822709;9753072;9553136;9512511;9391116;9354668;9226382;9182906;9168059;9047382;8921370;8662778;8022790;8022486;8022485;7973659;7973658;7559633;7538655;7535338;7499365;7481768;12605694;11485409;9637477;9133424;11585385;11994288;10872802;19913121;20628086;20697856;10373548;10395671;10875931;11160325;11909529;14968112;15588985;15996891;19170196;19423540;19531027;19573080;19608866;19625176;19692168;19734221;19773279;19859091;19889552;19923221;20040389;20138049;20190194;20406964;20438785;7481769;7662955;9133417;9520455;20339477;20372811;20568388;20237298;8493579;20478313;20098747;20568250;20800603;20959405;21048031;21345943;7594533;9973401;21095188;22705984;21346774;21414324;21691072;23384681;19290934;21969365;23012362;21599579;21821710;21952639;21537335;22368272;23341462;22221142;21906983;21971513;22039266;15385932;16273093;21988832;23238254;23404507;22505724;22425895 3718 P52333;Q8N1E8 ABBA01051233;AC007201;AF513860;AK296383;AK304392;AMYH01009576;AMYH01009577;BC028068;BF512748;BM561964;CH471106;DA405504;NG_007273;NM_000215;U08340;U09607;U31317;U31601;U57096;U70065 AAA17743;AAA19626;AAC50225;AAC50226;AAC50542;AAC50950;AAD22741;AAH28068;AAM44860;BAG59055;BAG65227;EAW84637;EAW84638;EAW84639;EAW84640;NP_000206;P52333 Hs.515247 1796146;2146975;2156587;2158454;5014063;5015619;5037552;5095010 D11S3114;D15S1390;D8S2279;JAK3;JAK3_768;RH70552;SHGC-35252;SHGC-58024 JAK-3;JAK3_HUMAN;JAKL;L-JAK;LJAK Janus kinase 3 (a protein tyrosine kinase, leukocyte);OTTHUMP00000230594;OTTHUMP00000230595;leukocyte Janus kinase;tyrosine-protein kinase JAK3 APPROVED protein-coding ENSG00000105639 6193 02547 600173;600802 REVIEWED 1605275 JAKMIP1 janus kinase and microtubule interacting protein 1 4 4 4 p16.1 5926442 6102430 - 6078827 6253219 - 6027926 6202318 - 6480464 14718537;18941173;17804789;17761393;17572408;16344560;15324660;15277531;14702039;12477932;22566498;20379614;23382691 152789 B4DHZ8;F2Z2K5;Q86Y69 ABBA01008271;ABBA01008272;ABBA01012716;AC092442;AC113615;AK056126;AK098536;AK124718;AK294356;AK295339;AK307983;AM412307;AM412308;AM412309;AM412310;AMYH01013911;AMYH01013912;AW157571;AY382340;BC026343;BC047075;CH471131;DA155551;NM_001099433;NM_144720 AAH47075;AAR26235;ADZ15555;BAB71098;BAC05325;BAG54078;BAG57621;BAG58310;CAL80778;CAL80779;CAL80780;CAL80781;EAW82401;EAW82402;NP_001092903;NP_653321;Q96N16 Hs.479066 1657033;1657758;1765935;1788986;1853997;2116763;2119072;2119380;2140671;2140673 D4S1059;D4S1127;D4S827;D4S912;G33502;G65572;SHGC-149339;SHGC-25149;SHGC-51705;SHGC-67226 FLJ31564;Gababrbp;JAMIP1;MARLIN1 GABA-B receptor-binding protein;Jak and microtubule interacting protein 1;OTTHUMP00000155144;OTTHUMP00000203209;OTTHUMP00000203210;OTTHUMP00000203212;OTTHUMP00000217225;OTTHUMP00000217781;janus kinase and microtubule-interacting protein 1;marlin-1;multiple alpha-helices and RNA-linker protein 1;multiple coiled-coil GABABR1-binding protein APPROVED protein-coding ENSG00000152969 26460 11292 611195 VALIDATED 731748 JAK2 Janus kinase 2 This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008] 9 9 p24 4975245 5117995 + 4985245 5128183 + 737719;1624963;1580863;1625125;1625126;737794;1357939;1300048;1357935;1627655;1627661;1641841;1641809;1600094;1600095;2302071;5133683;5686839;6478796;6480464;6483031;6483049;6483034;6483024;6483026;6483023;6483032;6483019;6483022;6483025;6483030;6483041;6484113;6483020;4892610;6483037;6907045;7240710 9590174;11064147;17010638;17312100;9590173;12032773;12039028;15781101;14630696;15932931;17021051;16269269;15948243;15316008;9287353;21881215;9314843;18636982;21685897;17897356;21510883;20440769;21596098;18079966;22275361;21880982;20627814;18782535;22066025;22269120;20808962;17823504 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3717 F5H5U8;O60674 ABBA01065417;ABBA01065418;AF001362;AF005216;AF058925;AI923337;AK292525;AK302618;AK308668;AL158147;AL161450;AL513350;AMYH01019201;AY973034;AY973037;BC039695;BC043187;CH471071;EF094945;EF194100;NG_009904;NM_004972 AAB82092;AAC23653;AAC23982;AAH39695;AAY16348;AAY22962;ABK91947;ABM69254;BAF85214;BAG63863;EAW58774;NP_004963;O60674 Hs.656213 1673370;1688263;1752617;1796144;2136290;2144260;5491971 JAK2-1;JAK2_1315;RH65887;RH92501;SHGC-106489;STS-U89896;WI-11536 JTK10;THCYT3 JAK-2;Janus kinase 2 (a protein tyrosine kinase);OTTHUMP00000021024;tyrosine-protein kinase JAK2 APPROVED protein-coding ENSG00000096968 6192 00993 133100;147796;254450;263300;600880;601626;614521 REVIEWED 1316212 JAKMIP3 Janus kinase and microtubule interacting protein 3 10 10 10 q26.3 127562508 127643434 + 133768303 133830527 + 133918313 133998313 + 6480464 17572408;15277531;15164054;14702039;12477932;16385451;23144326 282973 Q5VZ66 ABBA01006174;ABBA01006175;ABBA01006176;ABBA01006177;AK095176;AK097818;AK123426;AK126964;AL137551;AL162274;AL512622;AL832756;AMYH01003198;AMYH01003199;AMYH01003200;AMYH01003201;BC045170;CH471066;NM_001105521 BAC86766;CAH10388;EAW49141;NP_001098991;Q5VZ66 Hs.106254 1670567;1720713;1763029;1778093;2173660;5093098 A009F48;G32518;G59328;RH11288;SHGC-146776;WI-21586 C10orf14;C10orf39;FLJ37857;FLJ41432;Jamip3;NECC2;bA140A10.5 OTTHUMP00000210418;janus kinase and microtubule-interacting protein 3;neuroendocrine long coiled-coil 2;neuroendocrine long coiled-coil protein 2 protein-coding ENSG00000188385 23523 12574 611198 PROVISIONAL 1605109 JAKMIP2 janus kinase and microtubule interacting protein 2 The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 5 5 5 q32 143052668 143244124 - 146950899 147142445 - 146965002 147162411 - 6480464 17572408;16189514;15489334;14996095;14718537;12477932;9628581;19845895;20379614;20890944;17471488;17551518;17971050;22250954;12892780;16344560 9832 B4DSG0;G5E9Y0;Q96AA8 AB011127;ABBA01026323;AC011370;AC011415;AC126775;AF273057;AK291280;AK299724;AMYH01015692;AMYH01015693;BC003189;BC017354;CH471062;DB072234;EF512550;NM_001270934;NM_001270941;NM_014790;NR_073101 AAH03189;AAH17354;AAM44460;ABP62932;BAA25481;BAF83969;BAG61622;EAW61820;EAW61821;EAW61822;EAW61823;NP_001257863;NP_001257870;NP_055605;Q96AA8 Hs.184323;Hs.740461 1338306;1341507;1666119;1679714;1695160;1697964;1735538;1856720;2113806;2145432;2157346;2174552 2B1;D5S1387;D5S1668E;D5S1764;D5S2446;D5S2490;D5S2847;D5S463;G48220;RH102511;RH80687;WI-20658 JAMIP2;KIAA0555;NECC1 CTCL tumor antigen HD-CL-04;Jak and microtubule interacting protein 2;OTTHUMP00000160146;OTTHUMP00000160147;OTTHUMP00000223882;janus kinase and microtubule-interacting protein 2;neuroendocrine long coiled-coil 1;neuroendocrine long coiled-coil protein 1 APPROVED protein-coding 29067 11090 611197 REVIEWED 1344750 JBS Jacobsen syndrome 7240710 3719 6194 243800 1351723 JBTS1 Joubert syndrome 1 7240710 10577920 50955 21089 213300;610156 5684130 JAZF1-AS1 JAZF1 antisense RNA 1 7 p15.1 28220076 28280996 + 20379614;21980299 100128081 AACC02000007;ABBA01056780;ABBA01056781;AC005017;AK293540;AMYH01017137;AMYH01017138;CH236948;DB481568;NR_034097 BAH11527 Hs.434307 FLJ59585 APPROVED miscrna 41218 VALIDATED 5684146 JARID2-AS1 JARID2 antisense RNA 1 6 15248048 15248927 - 12477932 100506681 AL136162;AW340306;AW665239;BC033996;XR_108680 Hs.664092 APPROVED miscrna ENSG00000235488 40314 MODEL 1343747 JAM2 junctional adhesion molecule 2 This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] 21 21 q21.2 25933460 26009106 + 27011594 27089874 + 1580863;6480464 10779521;17525755;17822725;16381901;16335952;15489336;15489334;15340161;14519386;12975309;12953056;12810109;12477932;12476045;12070135;12036298;11823489;11590146;11076863;10945976;10830953;17057644;19734545;21982860;21988832;23277282;14702039;18329007;18574677;20624003 58494 A8MQ45;H0YEX9;P57087 ABBA01057211;AF255910;AI742752;AK056079;AK294769;AK312708;AMYH01012174;AP000223;AP000224;AP000225;AP000226;AX772824;AY016009;AY077698;AY358361;BC017779;BG540412;BM804795;BM921497;CH471079;CX870550;NM_001270407;NM_001270408;NM_021219;NR_072999 AAF81223;AAG49022;AAH17779;AAL82538;AAQ88727;BAG35586;BAG57900;CAE06261;CAL37679;CAL37748;CAL38686;EAX09976;EAX09977;EAX09978;NP_001257336;NP_001257337;NP_067042;P57087 Hs.517227 1647197;1653045;1665103;1679535;1742123;1784466;2159256;5037552;5118576 Cda18a04;D11S3430;D8S2279;G34697;GDB:191984;RH94377;SHGC-170146;SHGC-87519;STS-R68464 C21orf43;CD322;JAM-B;JAMB;PRO245;VE-JAM;VEJAM JAM-2;JAM-IT/VE-JAM;OTTHUMP00000096100;OTTHUMP00000096101;OTTHUMP00000096102;OTTHUMP00000096103;OTTHUMP00000096104;OTTHUMP00000096105;junctional adhesion molecule B;vascular endothelial junction-associated molecule APPROVED protein-coding ENSG00000154721 14686 06041 606870 REVIEWED 7248208 JHDM1D-AS1 JHDM1D antisense RNA 1 (head to head) 16344560 100134229 AA493421;AACC02000022;ABBA01034061;AC004849;AK026372;AMYH01017983;CH236950;DA585317;DA816865;NR_024451 Hs.634333 miscrna ENSG00000260231 48959 VALIDATED 1354253 JARID2 jumonji, AT rich interactive domain 2 This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012] 6 6 p24-p23 15354506 15630232 + 15246206 15522273 + 1580863;6480464 8894700;19010793;18805276;16967465;15542826;15489334;15057990;14574404;12890668;12477932;10913339;10807864;19010785;19759154;19884986;20075857;20123894;22110129;22215809;22190018;23294540;19322201;22116950;15174051;23349640 3720 F5H590;Q92833 ABBA01022168;ABBA01022169;ABBA01022170;ABBA01022171;ABBA01022172;ABBA01022173;AF401209;AK126552;AK292861;AK299349;AK302624;AK303610;AL021938;AL136162;AMYH01016104;AMYH01016105;AMYH01016106;AMYH01016107;AMYH01016108;AMYH01016109;BC046184;BC046246;CA435807;CH471087;NM_001267040;NM_004973;U57592 AAC50822;AAH46184;AAH46246;AAL02168;BAF85550;BAH13011;BAH13765;BAH13996;EAW55357;EAW55358;NP_001253969;NP_004964;Q92833 Hs.269059 1337699;1337794;1340636;1654135;1668065;1670642;1675199;1676200;1694812;1710746;1715667;1724683;1730489;1730491;1739075;1750077;1753157;1760969;1771291;1850531;2111322;2122123;2145011;2150183;2155615;2159448;2174103;2217506;7184722;7186828;7187935 B346XE1;D6S1103E;D6S1349;D6S2005;D6S260;D6S289;D6S339;D6S469;D6S89;G43636;JARID2_3393;RH119279;RH121346;RH1514;RH37458;RH37571;RH44612;RH45453;RH45704;RH92536;SHGC-110030;SHGC-112331;SHGC-144924;SHGC-58076;SHGC-58184;SHGC-84005;STS-N32962;WI-12425 JMJ OTTHUMP00000016058;jumonji homolog;jumonji-like protein;jumonji/ARID domain-containing protein 2;protein Jumonji APPROVED protein-coding ENSG00000008083 6196 03355 601594 REVIEWED 1602305 JDP2 Jun dimerization protein 2 14 14 q24.3 74968590 75006909 + 75894509 75939404 + 6480464 8889548;18671972;18396163;17545590;16026868;14627710;12707301;12477932;12225289;12101239;12052888;11602244;11231009;9154808;18307971;12650714;17347654;19553667;20452405;20211142;20677166;21525011;20950777;19322201;22699663;23251661;22989952 122953 H0YKE4;Q8WYK2 AB077880;ABBA01030697;ABBA01030698;ABBA01030699;AC009363;AF111167;AI916777;AMYH01005858;AMYH01005859;AMYH01005860;BC051303;BC068196;BE389064;BU740697;CH471061;NM_001135047;NM_001135048;NM_001135049;NM_130469 AAC98313;AAF21148;AAH51303;BAB83896;EAW81231;EAW81232;EAW81233;NP_001128519;NP_001128520;NP_001128521;NP_569736;Q8WYK2 Hs.196482 1649823;1694686;1761221;1769860;2168741 G10731;G43530;RH48884;SHGC-145231;WI-17116 JUNDM2 jun dimerization protein 2;progesterone receptor co-activator protein-coding ENSG00000140044 17546 16360 608657 VALIDATED 1606499 JHDM1D jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) 7 7 7 q34 134506404 134598541 - 139431015 139523210 - 139784546 139876741 - 6480464 14702039;12477932;11214970;20023638;20084082;18029348;22143793 80853 H9KVD6;Q6ZMT4 AACC02000022;AB051505;ABBA01034056;ABBA01034057;ABBA01034058;AC004849;AK057208;AK131497;AMYH01017982;BC127007;BX641017;BX649115;CH236950;CH471070;NM_030647 AAI27008;AAS00360;BAB21809;BAD18641;CAE46011;EAL24032;EAW83940;NP_085150;Q6ZMT4 Hs.308710 1338681;1670441;1672472;1715287;1720075;1856289;2130881;2158017;2183214 D7S1518;GDB:1318569;GDB:3755067;RH120474;RH123779;RH18256;SHGC-34239;STS-D29463;STS-R69609 KDM7A;KIAA1718 OTTHUMP00000211962;histone lysine demethylase JHDM1D;jmjC domain-containing histone demethylation protein 1D;jumonji C domain-containing histone demethylase 1 homolog D;lysine-specific demethylase 7 protein-coding ENSG00000006459 22224 VALIDATED 1346212 JAM3 junctional adhesion molecule 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] 11 11 q25 133444030 133526861 + 133938820 134021652 + 6480464;7240710 15485832;21593193;19308021;19204148;18821692;18048693;17822725;17625065;17612407;17429428;17227766;17116731;16916751;16410001;16303743;16195363;16118203;15879142;15489334;15340161;15194813;14702039;12975309;12953056;12810109;12477932;12208882;12070135;11944976;11823489;11739175;11590146;8125298;21109224;15811349;17057644;19143587;19461049;20135068;19913121;20592283;20628086;15994945;23221386;21890473;21796628;21982860;22053931;23277282 83700 H0YCW9;H0YD98;Q9BX67 ABBA01031111;ABBA01031112;AF356518;AF448478;AJ344431;AJ416101;AK027435;AK074769;AK075309;AK125071;AK225666;AMYH01004146;AP000911;AP001775;AY358335;BC010690;BC012147;BC057284;BC063031;CH471065;CQ782704;CQ783910;HI574154;JA238009;NG_028348;NM_001205329;NM_032801;W76344 AAH10690;AAH12147;AAK27221;AAM20925;AAQ88701;BAC11195;BAC11538;BAG54131;CAC69845;CAC94776;CAF85939;CAF86920;CBX47566;CCA65346;EAW67817;EAW67818;EAW67819;EAW67820;NP_001192258;NP_116190;Q9BX67 Hs.150718 1647569;1651760;1652728;1667426;1674276;1682315;1686328;1767595;1774621;1796148;2161309;2163234 A008R34;AFM193yh2;D11S1045;D11S2387;G02300;JAM3_1398;RH26817;RH40091;SHGC-35044;WI-11521;WI-21682;WI-8498 FLJ14529;JAM-2;JAM-3;JAM-C;JAMC JAM-2;JAM-3;OTTHUMP00000235250;OTTHUMP00000235251;junctional adhesion molecule C APPROVED protein-coding ENSG00000166086 15532 06042 606871;613730 REVIEWED 1604718 JAZF1 JAZF zinc finger 1 This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008] 7 7 p15.2-p15.1 27836717 28186962 - 27870192 28220437 - 6480464 15302918;19602701;19592620;19549807;19542872;19502414;19423541;19366831;19343178;19324937;19318432;19258404;19247373;19225753;19139842;19020324;19020323;18952825;18794092;18772439;18722875;18714373;18694974;18591388;18567820;18372903;18264096;18077430;17667554;17197920;16397222;16344560;15489334;15043312;14702039;12690205;12477932;11371647;8401585;19670153;19720844;19741467;19794065;19833888;19838195;19862325;19866473;19900942;19902474;19933996;19998368;20075150;20161779;20203524;20379614;20406958;20450899;20460480;20490451;20581827;20712903;20717903;20816152;20878950;20879858;20889853;20927120;21068098;21071540;20546612;20690139;23328127;21890473;22113416;20881960;22918161;23128233;23400010 221895 C9JGY8;C9JKQ6;C9JWY1;F8WCD3;F8WD35;H0Y403;Q86VZ6 AACC02000007;ABBA01056776;ABBA01056777;ABBA01056778;ABBA01056779;ABBA01056780;AC004007;AC004549;AC004885;AC005017;AK000711;AK091311;AL832491;AL834234;AMYH01017134;AMYH01017135;AMYH01017136;AMYH01017137;AY372319;BC042441;BC047229;CH236948;CH471073;DA864624;NG_011499;NM_175061 AAH42441;AAQ74874;ABZ92144;BAG52333;CAD38912;CAH10579;EAL24212;EAW93905;NP_778231;Q86VZ6 Hs.368944 1335975;1338347;1644916;1663948;1673704;1680094;1687215;1691384;1697134;1710990;1711834;1711844;1713687;1730447;1739169;1767155;1773971;1788466;1851707;1852328;1853276;1856898;2126436;2126649;2129962;2134130;2146643;2166742;2173576;7183704;7186951 D7S1535;D7S1569;D7S1590;D7S1808;D7S1987;D7S2272;D7S2835;D7S516;D7S547;G29216;G42089;G49448;G49453;GDB:1318436;GDB:4585731;RH102053;RH120726;RH36495;RH92604;RH98830;SHGC-52834;SHGC-56019;SHGC-57972;SHGC-58372;SHGC-84867;STS-T95652;WI-14586;WI-22677;fa14e09.s1 DKFZp761K2222;TIP27;ZNF802 OTTHUMP00000158681;OTTHUMP00000202334;OTTHUMP00000202336;OTTHUMP00000202339;TAK1-interacting protein 27;juxtaposed with another zinc finger gene 1;juxtaposed with another zinc finger protein 1;zinc finger protein 802 APPROVED protein-coding ENSG00000153814 28917 09373 606246 REVIEWED 7240943 JMJD1C-AS1 JMJD1C antisense RNA 1 10 q21.3 65224989 65226323 + 12477932 84989 ABBA01019503;AC022022;AK314171;AMYH01002778;BC007866;CH471083;NR_027182 BAG36854;EAW54245 Hs.659950 miscrna 28222 VALIDATED 1320591 JMJD1C jumonji domain containing 1C 10 10 10 q21.3 58194301 58493237 - 64596991 64895728 - 64926985 65225722 - 1580863;6480464 22829776;17353003;7776974;18940312;17549425;17290275;14702039;14533015;12477932;10718198;17353931;20648472;16385451;19820697;19936222;20379614;20526338;11500849;21900206;20686565;22001757;22354554;22423221;21139048;22890011;22936694;23263863;22139419 221037 H7BXU7;Q9P2G7 AB037801;ABBA01019497;ABBA01019498;ABBA01019499;ABBA01019500;ABBA01019501;ABBA01019502;ABBA01019503;AC022022;AK024991;AK027280;AK056660;AK095584;AK123507;AK126040;AL590502;AL607128;AL713895;AL831917;AMYH01002777;AMYH01002778;BC026268;BC037981;BC047331;BC065742;BC067238;BC108649;BC126403;BC143722;BF243713;BX537954;CH471083;DR002533;EF068222;HI574084;HI574086;L40411;NM_004241;NM_032776 AAC41741;AAH26268;AAI43723;AAI56415;ABK64187;BAA92618;CAD38578;CAD97921;CBX47531;CBX47532;EAW54242;EAW54243;NP_004232;NP_116165;Q15652 Hs.413416 1340058;1645543;1656228;1673856;1678787;1740865;1748547;1773760;1848829;1857224;2123127;2135101;2176228;5092692;7186406 A005Q22;D10S1572;D10S561;D20S1080;G32269;RH44815;RH46053;RH47880;RH80661;SHGC-130658;SHGC-36251;STS-AA011025;STS-N24840;WI-22650 DKFZp761F0118;FLJ14374;KIAA1380;RP11-10C13.2;TRIP8 OTTHUMP00000019677;TR-interacting protein 8;TRIP-8;jumonji domain-containing protein 1C;probable JmjC domain-containing histone demethylation protein 2C;thyroid hormone receptor interactor 8;thyroid receptor interacting protein 8;thyroid receptor-interacting protein 8 protein-coding ENSG00000171988 12313 05141 604503 VALIDATED 1345689 JMS Juberg-Marsidi syndrome 3721 6197 1318960 JKAMP JNK1/MAPK8-associated membrane protein 14 14 14 q23.1 40000231 40021171 + 59020914 59041834 + 59951161 59972081 + 6480464 19269966;18784250;16381901;16166642;15489336;15489334;14702039;12800201;12477932;11230166;11076863;11042152;20379614;22505724 51528 G3V2M4;G3V2R2;G3V372;G3V4D0;Q9HAH5 AA461198;ABBA01018270;AF151047;AF161445;AF212245;AF529304;AK021683;AK027591;AK056145;AK298209;AL121694;AL136696;AL159140;AL162471;AMYH01005765;BC005198;BC010359;BX161501;CH471061;CR457163;CR533510;DC381037;NM_001098625;NM_016475 AAF29005;AAF36133;AAG41781;AAH05198;AAH10359;AAP85636;BAB13874;BAB55216;BAG51634;BAG60479;CAB66631;CAD61945;CAG33444;CAG38541;CAL37437;CAL37512;EAW80753;EAW80754;EAW80755;EAW80756;EAW80757;EAW80758;NP_001092095;NP_057559;Q9P055 Hs.446850 1647744;2114394;2114396;2117841;2117843;2123172;2140584 A005P02;A006D06;D14S828;G20388;G20716;RH11221;SHGC-24111 C14orf100;CDA06;HSPC213;HSPC327;JAMP JNK-associated membrane protein;JNK1-associated membrane protein;JNK1/MAPK8-associated membrane protein;Jun N-terminal kinase 1-associated membrane protein;OTTHUMP00000244973;OTTHUMP00000244974;OTTHUMP00000244977;OTTHUMP00000244978;medulloblastoma antigen MU-MB-50.4 APPROVED protein-coding 20184 12623 611176 VALIDATED 1607006 JMJD4 jumonji domain containing 4 1 1 1 q42.13 201110595 201114816 - 225985558 225989735 - 227918890 227923112 - 6480464 14702039;12477932;21139048;21890473;21906983;20881960;22505724 65094 Q9H9V9 AA594981;ABBA01009609;AK022579;AK023030;AK026908;AL136378;AMYH01001784;BC011928;BC109272;CH471098;NM_001161465;NM_023007 BAB14109;BAB14366;EAW69818;EAW69819;NP_001154937;NP_075383;Q9H9V9 Hs.555974;Hs.744163 FLJ12517;MGC129896 OTTHUMP00000035836;OTTHUMP00000035837;jmjC domain-containing protein 4;jumonji domain-containing protein 4 protein-coding ENSG00000081692 25724 07774 VALIDATED 1601801 JMJD8 jumonji domain containing 8 16 16 16 p13.3 931824 934596 - 671668 674440 - 731667 734439 - 6480464 12477932;11157797 339123 H3BMF2;H3BN60;H3BVG3;Q96S16 ABBA01030356;AE006464;AF370420;AI022970;AMYH01006999;BC073785;BC094850;BC137100;BC137101;BI463867;CH471112;DQ074695;NM_001005920;Z92544 AAH73785;AAH94850;AAI37101;AAI37102;AAK61243;AAQ15256;AAY82251;EAW85754;EAW85755;NP_001005920;Q96S16 Hs.533771 1680637;2132198;5023495 IB740;RH15604;SHGC-60692 C16orf20;PP14397 jmjC domain-containing protein 8;jumonji domain-containing protein 8 protein-coding ENSG00000161999 14148 17351 VALIDATED 1350132 JPD juvenile periodontitis 7240710 3722 6198 170650;245000;245010 1313400 JMJD6 jumonji domain containing 6 This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q25 72220509 72234476 - 74708914 74722881 - 6480464 22189873;17947579;17534701;19574390;14729065;19492415;18564434;16983801;15622002;15489334;15469976;15453906;15345036;15193161;15072554;14702039;14645848;12898702;12559004;12477932;11877474;10811223;9628581;21300889;20684070;20679243;20574068;21139048;21555454;21890473;21906983;22863883;22701020;21963094;23303181;22621393;22505724 23210 B2WTI3;B2WTI4;K7EJU9;Q6NYC1 AA226560;AA775442;AB011157;AB073711;ABBA01028731;AC005837;AK021780;AK294816;AK314541;AMYH01008649;BC016837;BC047003;BC066654;CH471099;DB451815;EF527406;EF527407;NM_001081461;NM_015167 AAH47003;AAH66654;ABU68576;ABU68577;BAA25511;BAC16755;BAG51050;BAG57932;EAW89429;EAW89430;EAW89431;EAW89432;EAW89433;EAW89434;NP_001074930;NP_055982;Q6NYC1 Hs.514505 1677842;2109707;5015619 D11S3114;PTDSR_9319;RH93087 KIAA0585;PSR;PTDSR;PTDSR1 OTTHUMP00000240609;OTTHUMP00000240610;OTTHUMP00000240612;bifunctional arginine demethylase and lysyl-hydroxylase JMJD6;histone arginine demethylase JMJD6;jmjC domain-containing protein 6;jumonji domain-containing protein 6;lysyl-hydroxylase JMJD6;peptide-lysine 5-dioxygenase JMJD6;phosphatidylserine receptor APPROVED protein-coding ENSG00000070495 19355 05371 604914 REVIEWED 2290030 JMJD7-PLA2G4B JMJD7-PLA2G4B readthrough This gene transcribes naturally-occurring mRNAs that are read-through products of the neighboring jumonji domain containing 7 (JMJD7) and phospholipase A2, group IVB (PLA2G4B) genes. These read-through products contain in-frame segments from both genes but a function has yet to be determined for the predicted fusion proteins, which contain a partial JmjC domain and downstream C2 and phospholipase A2 domains. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2011] 15 15 15 q11.2-q21.3 18887926 18907988 + 39907581 39927633 + 42120283 42140346 + 6907045 16617059;16344560;15999343;15862967;15489334;15274049;12477932;11741884;10358058;10085124;8889549;8889548;8125298;9745929;9377118;20967262;19913121;20628086 8681 H0Y9G9;P0C869 AA064721;AB209150;ABBA01038386;AC020659;AF065215;AF065216;AF121908;AMYH01006578;BC013415;BC128426;BI768993;BU688449;CH471125;DA080158;DA096882;DA121536;DQ523799;DQ523800;NG_029927;NM_001198588;NM_005090 AAC78836;AAD32135;AAI72355;ABF69195;ABF69196;BAD92387;EAW92521;NP_001185517;NP_005081 Hs.198161 1679948;1693564;1698676;1736504;1849353;1853410;2114144;5015619;5015621;5022578 A004M13;D11S3114;D11S3732;D15S711E;D1S1423;NIB1403;RH102897;RH91785;SHGC-58472;WI-13757 HsT16992;PLA2G4B;cPLA2-beta JMJD7-PLA2G4B protein;JMJD7-PLA2G4B read-through;JMJD7-PLA2G4B readthrough transcript;OTTHUMP00000041703;OTTHUMP00000201605;OTTHUMP00000210673;jumonji domain containing 7-phospholipase A2, group IVB (cytosolic) read-through;phospholipase A2, group IVB (cytosolic) APPROVED protein-coding ENSG00000168970 34449 07306 REVIEWED 2298734 JMJD7 jumonji domain containing 7 This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 18887926 18897428 + 42120283 42129785 + 42120283 42129785 + 6480464 16617059;16344560;15809658;15489334;12477932;10358058;10085124;8889548;8125298;11181995;19913121;20628086 100137047 B5MC20;C9K0I3;P0C870 ABBA01038386;AC020659;AK000550;AK000663;AK000814;AK225503;AK289833;AK290051;AMYH01006578;BC025290;BC067834;BC110415;BC139899;BU739980;CH471125;DA100207;NG_029927;NM_001114632 AAH25290;AAI39900;BAA91385;BAF82522;BAF82740;EAW92520;NP_001108104;P0C870 Hs.198161 1698676;1849353;2114144 A004M13;NIB1403;RH102897 FLJ20543;FLJ20656;FLJ20807;FLJ77014;FLJ78330 OTTHUMP00000201602;OTTHUMP00000201603;OTTHUMP00000201608;jmjC domain-containing protein 7;jumonji domain-containing protein 7 APPROVED protein-coding ENSG00000168970;ENSG00000243789 34397 VALIDATED 1603907 JMY junction mediating and regulatory protein, p53 cofactor 5 5 5 q14.1 74431728 74522800 + 78569043 78653704 + 78531925 78623038 + 6480464 18398821;10518217;19287377;16344560;15146197;14702039;12477932;15706352;17170761;19897726;8889548;22262458;21625218;21965285 133746 Q8N9B5 ABBA01062009;ABBA01062010;ABBA01062011;ABBA01062012;AC016559;AC020898;AK092475;AK095189;AL708168;AMYH01015437;BC130624;BM668734;BX648048;BX648731;CH471084;CN372786;DA435238;DB313348;DW425980;NM_152405 AAI30625;BAC04495;EAW95834;NP_689618;Q8N9B5 Hs.482605 1644375;1651439;1699904;2219840 JMY__6491;RH103560;RH46880;WI-22612 FLJ37870;MGC163496;WHDC1L3 OTTHUMP00000161976;WAS protein homology region 2 domain containing 1-like 3;junction-mediating and -regulatory protein;junction-mediating and regulatory protein protein-coding ENSG00000152409 28916 05045 604279 VALIDATED 1318763 JPH1 junctophilin 1 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008] 8 8 8 q21 71144786 71231414 - 75309493 75396117 - 75146939 75233562 - 1580863;6480464 19095005;10891348;17081983;16421571;15146197;12777839;12477932;12135771;10949023;20379614;20308539;18029348;23148318;20360068;22020936;21890473;19322201 56704 E5RHU9;Q7Z682;Q86VR1;Q9HDC5 AB042635;ABBA01041979;AC087792;AF110324;AMYH01018798;BC017980;BC049372;BC098299;BC098314;BC099736;BC113856;BC114464;BC139832;BC140875;BC140876;BX537756;CH471068;CN272069;CR627477;NM_020647 AAH49372;AAH98299;AAI13857;AAI14465;AAI39833;AAI40876;AAI40877;BAB11986;CAD97825;CAH10677;EAW87026;EAW87027;EAW87028;EAW87029;EAW87030;EAW87031;NP_065698;Q9HDC5 Hs.657367 1338960;1715245;1735764;1778796;2133140;7184011 D8S1372E;D8S1639;D8S551;RH119873;RH45244 DKFZp762L0313;JP-1;JP1 OTTHUMP00000226895;junctophilin type 1;junctophilin type1;junctophilin-1;mitsugumin72 APPROVED protein-coding ENSG00000104369 14201 07286 605266 REVIEWED 1604837 JOSD1 Josephin domain containing 1 22 22 22 q13.1 22888225 22903135 - 37411572 37426215 - 39081548 39096459 - 6480464 18029348;18579725;15489334;15461802;12486728;12477932;10591208;7584044;22889411;19615732;21987572;21139048;21890473;21906983;19322201;19382171;22053931;22505724;22626734;21963094;23000965 9929 B0QY55;B0QY56;B0QY57;B0QY58;H0YGT9;Q15040 ABBA01055530;ABBA01055531;AK291827;AL021707;AMYH01012764;BC015026;CH471095;CR456473;CR456923;D31884;NM_014876 AAH15026;BAA06682;BAF84516;CAG30359;CAG33204;CAK54454;CAK54753;EAW60259;EAW60260;NP_055691;Q15040 Hs.3094 1666615;1667125;1682185;1685069;1690057;2129830;2147682;5022322 =D22S272;AL022555;D11S2560;D22S923;RH25296;RH91494;SGC31584;SHGC-3369 KIAA0063;dJ508I15.2 Josephin-1;OTTHUMP00000198984;OTTHUMP00000198988;OTTHUMP00000239365;josephin domain-containing 1 protein-coding ENSG00000100221 28953 08823 615323 VALIDATED 1606979 JOSD2 Josephin domain containing 2 This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.33 48060563 48065647 - 55701071 55706157 - 51009254 51014612 - 6480464 15489334;12477932;15342556;16611142;17696782;21118805;8889548;19615732;21890473;21906983;22118674 126119 M0QZL8;Q7Z7N5;Q8TAC2 ABBA01068319;AC008743;AF247787;AK131052;AMYH01009940;BC051380;BC062416;BM970016;BP328576;CH471135;HY056543;NM_001270639;NM_001270640;NM_001270641;NM_001270686;NM_138334 AAH51380;AAH62416;AAL95692;EAW71874;EAW71875;EAW71876;EAW71877;NP_001257568;NP_001257569;NP_001257570;NP_001257615;NP_612207;Q8TAC2 Hs.467151;Hs.737597 1697124 RH102046 FLJ29018;SBBI54 Josephin-2;josephin domain-containing protein 2 APPROVED protein-coding ENSG00000161677 28853 15297 615324 REVIEWED 6480857 JRKL-AS1 JRKL antisense RNA 1 11 96176445 96240040 - 100874053 ABBA01040005;ABBA01040006;AMYH01003973;AP003781;BE972282;NR_047481 Hs.742044 APPROVED miscrna 43670 VALIDATED 1313081 JPH2 junctophilin 2 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008] 20 20 q13.12 42173751 42249632 - 42740337 42816218 - 1580652;1580863;6480270;6480464 15541368;20576937 19095005;17509612;17476457;17081983;14702039;12477932;11780052;10949023;10891348;15782160;22389502;21216834;21339484;20095964;20379614;23148318;22020936 57158 Q86VZ3;Q9BR39 ABBA01052633;ABBA01052634;AK098288;AK098303;AK304863;AL034419;AL035447;AL132999;AMYH01011929;AMYH01011930;AMYH01011931;AMYH01011932;AW014086;BC029957;BC043206;CH471077;NG_031867;NM_020433;NM_175913 AAH43206;AAI72751;BAG65601;CAB61347;EAW75940;EAW75941;EAW75942;EAW75943;NP_065166;NP_787109;Q9BR39 Hs.441737 CMH17;FLJ40969;JP-2;JP2 OTTHUMP00000031651;OTTHUMP00000031652;junctophilin type 2;junctophilin-2 APPROVED protein-coding ENSG00000149596 14202 12006 605267;613873 REVIEWED 3322361 JPX JPX transcript, XIST activator (non-protein coding) JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011] X X X q13.2 73447638 73573698 + 73205592 73207391 + 73164159 73290219 + 21254562;12477932;14702039;17567985;21029862 554203 ABBA01059608;ABBA01059609;ABBA01059610;ABBA01059611;ABBA01059612;ABBA01059613;ABBA01059614;ABBA01059615;ABBA01059616;ABBA01059617;ABBA01059618;ABBA01059619;ABBA01059620;ABBA01059621;ABBA01059622;ABBA01059623;ABBA01059624;ABBA01059625;AK056172;AL139400;AL353804;AL627389;AMYH01022611;AV714079;BC029480;BC071776;BP871721;NR_024582 Hs.648316 1644804;1653279;1658510;1702582;2121526;2136172;2148538;2165832;2171257;2175900;5014051;5014740;5015619;5016478;5021872;5022578;5037552 A007J18;AFM352tf5;D11S3114;D17S610;D1S1423;D8S2278;D8S2279;DXS1680;DXS9743;GDB:434012;RH46225;RH68558;SHGC-32313;SHGC-32393;SHGC-33275;WI-11090;sY3084 ENOX;LINC00183;NCRNA00183 APPROVED miscrna 37191 300832 VALIDATED 6481083 JTBP1 jumping translocation breakpoint pseudogene 1 22 41194043 41194289 + 100874254 ABBA01055609;AMYH01012794;NG_032231;Z98048 pseudo 39180 INFERRED 1351606 JTK5A JTK5A protein tyrosine kinase 3723 6202 1344537 JTK5B JTK5B protein tyrosine kinase 3724 6203 1318170 JPH3 junctophilin 3 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012] 16 16 q24.3 86194000 86289263 + 87636499 87731762 + 1580863;6480426;6480464;7240710 18077435 10891348;17353931;19095005;18816802;18651325;17708569;16858508;15876586;15527767;15489334;14702039;12805114;12477932;11914418;11694876;10949023;9225980;11145944;19724895;19851296;20198315;20379614;20301701;21555070;22367996;22321011;22447335;11329013;21697133 57338 B4DIC1;F8W9A3;Q8WXH2;Q96HD8 AA813196;AB042636;AB042640;AB593088;ABBA01006914;ABBA01006915;AC010536;AC092720;AF429315;AI299726;AK055486;AK126663;AK295518;AK297215;AMYH01007900;AW954561;BC008690;BC036533;BG205692;BI553267;BQ014355;CH471114;NG_009797;NM_001271604;NM_001271605;NM_020655;NR_073379 AAH08690;AAH36533;AAL40941;ABM84495;ABM85346;BAB11983;BAB11987;BAG51525;BAG58433;BAG59698;BAJ84028;EAW95386;EAW95387;NP_001258533;NP_001258534;NP_065706;Q8WXH2 Hs.592068;Hs.733790 1336182;1729558;1766835;1783356;2110469;2178507;2179799 D16S305;D16S3123;JPH3__6493;RH66295;SHGC-145946;SHGC-152224;SHGC-60765 CAGL237;FLJ44707;HDL2;JP-3;JP3;TNRC22 OTTHUMP00000175011;junctophilin type 3;junctophilin-3;trinucleotide repeat containing 22;trinucleotide repeat-containing gene 22 protein APPROVED protein-coding ENSG00000154118 14203 05589 605268;606438 REVIEWED 1315305 JPH4 junctophilin 4 This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 14 14 14 q11 3899912 3910677 - 23107087 23117834 - 24037244 24048009 - 1580863;6480464 19095005;16344560;15489334;14702039;14559359;12477932;11347906 84502 F5H1L9;Q96JJ6 AB058734;ABBA01061322;AK055345;AK091572;AK290511;AK304514;AL135999;AL834411;AMYH01005604;AY344068;BC055429;BC109228;CH471078;DA108605;NM_001146028;NM_032452 AAH55429;AAS47836;BAB47460;BAB70905;BAF83200;BAH14203;CAD39073;EAW66135;EAW66139;NP_001139500;NP_115828;Q96JJ6 Hs.597841 1651525;1776936;2160768;7186288 D14S104E;RH15730;STS-AA004314 FLJ34253;JP4;JPHL1;KIAA1831 JP-4;OTTHUMP00000027957;OTTHUMP00000246281;junctophilin like 1;junctophilin-4;junctophilin-like 1 protein APPROVED protein-coding ENSG00000092051 20156 17170 REVIEWED 1314867 JRK jerky homolog (mouse) This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 140050845 140059905 - 143735876 143748403 - 143738874 143751401 - 1580863;6480464 16344560;14702039;12477932;11463517;9675132;20379614;10510981;22505724 8629 O75564;Q86XJ5 AB209002;ABBA01005290;AC108002;AC145123;AF072467;AF072468;AF072469;AK024145;AK024975;AK025687;AK127631;AMYH01019090;AMYH01019091;BC024297;BC030566;BC036794;BC043351;BC071862;BX640755;CH471162;DB083591;NG_012215;NM_001077527;NM_001279352;NM_003724 AAC32352;AAC32353;AAC32354;AAH43351;BAC87064;BAD92239;CAE45862;EAW82315;EAW82316;EAW82317;NP_001070995;NP_001266281;NP_003715;O75564 Hs.535903;Hs.683465 1336478;1339060;1774423;2110471;2182113 D8S1751;D8S1836;JRK__6494;STS-F01571;STS-T03654 DKFZp686C24207;FLJ45729;JH8 jerky protein homolog APPROVED protein-coding 6199 04442 603210 REVIEWED 1319078 JRKL jerky homolog-like (mouse) The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 11 11 11 q21 93423358 93426927 + 95763462 95766375 + 96123158 96126727 + 1580863;6480464 9240447;16344560;12477932;8889548;22648509;23128233 8690 Q9Y4A0 ABBA01040006;AC018702;AF004715;AK290579;AK314216;AMYH01003973;AP003781;BC031306;BC109202;CA503357;CH471065;DB030091;DB084056;NM_001261833;NM_003772 AAB65833;AAI09203;BAF83268;BAG36890;EAW66986;NP_001248762;NP_003763;Q9Y4A0 Hs.105940;Hs.745352 5493031 UniSTS:483873 HHMJG;MGC129608 OTTHUMP00000207000;erky homolog-like;human homolog of mouse jerky gene protein;jerky protein homolog-like APPROVED protein-coding ENSG00000183340 6200 04443 603211 REVIEWED 1342755 K12T K12 temperature sensitivity complementing 455493 3729 6209 1603184 JSRP1 junctional sarcoplasmic reticulum protein 1 The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012] 19 19 19 p13.3 2186426 2190598 - 2203252 2207386 - 2252250 2256422 - 6480464 16423849;14702039;12871958;12477932;16344560;20442750;22927026;21044950 126306 K7EKG1;Q96MG2 ABBA01002714;AC005263;AC138127;AK056978;AMYH01009278;AW137573;BC021201;CH471139;DA897543;DA898560;NG_032853;NM_144616 AAH21201;ACE86420;ACE87095;BAB71330;EAW69396;NP_653217;Q96MG2 Hs.330742 2131407 RH71348 FLJ32416;JP-45;JP45 2310032K21Rik;homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45;junctional sarcoplasmic reticulum protein 1;junctional-face membrane protein of 45 kDa homolog;skeletal muscle sarcoplasmic reticulum protein JP-45 APPROVED protein-coding ENSG00000167476 24963 08724 608743 REVIEWED 736325 JTB jumping translocation breakpoint 1 1 1 q21 127018496 127022202 - 152213369 152217075 - 153946745 153950451 - 69865;1580863;6480464 10321732 9110174;18029348;15489334;12586295;12477932;11042152;10762645;22079049;8619474;12897160;19487072;21225229;21963094;21988832;23297497;21832049;22615844;21900206 10899 O76095 AB016488;AB016492;AB016493;ABBA01049460;AF115850;AF131797;AF151056;AK312106;AL358472;AMYH01001409;BC000499;BC000996;BC001363;BC001667;BC004239;BC019277;BM907938;BT007285;BU527541;CH471121;CR456985;NM_006694 AAD09822;AAD20045;AAF36142;AAH00499;AAH00996;AAH01363;AAH01667;AAH04239;AAH19277;AAP35949;BAA33731;BAA33735;BAA33736;BAG35042;CAG33266;EAW53242;NP_006685;O76095 Hs.6396 1654988;1688306;2141947;2164402;2218434 A004O27;CREB3L4_4636;RH11825;RH63845;RH67852 HJTB;HSPC222;PAR;hJT OTTHUMP00000034759;jumping translocation breakpoint protein;prostate androgen-regulated protein;protein JTB protein-coding ENSG00000143543 6201 05240 604671 VALIDATED 1350651 KAL2 Kallmann syndrome 2 (autosomal dominant) 7240710 3731 6212 101600;123150;147950;166250;190440 1343715 KAL3 Kallmann syndrome 3 (autosomal dominant) 3733 6213 1352931 KALP Kallmann syndrome sequence pseudogene Y Y Y q11 2963470 2963653 + 14490157 14490340 + 15863536 16031902 + 12815422;1303285;9847074 3734 Q9UDP4 ABBA01065466;ABBA01065467;ABBA01065468;ABBA01065469;ABBA01065470;AC006370;AC006371;NG_001153;X68743 AAD54510 1752997;2177758;5018015 KALP-5;SHGC-78698;SY182 ADMLY;KAL-Y pseudo 6214 INFERRED 1350490 KAL1 Kallmann syndrome 1 sequence Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008] X X p22.32 8456915 8660227 - 8496915 8700227 - 1580863;6480464;7240710 1922361;8842728;1913827;8832397;18723471;18682503;18463157;18160472;17603054;17223984;17213338;17054399;16876430;15949815;15636431;15605412;15548653;15471890;15324302;15146197;15004876;15001591;12627230;12050219;11463336;11297579;10591208;9713559;9589672;8989261;8504298;7590336;1977309;1303284;1302031;22016523;20362962;12477932;19696444;19734936;19844165;20219326;20734064;22939629;20530987;23410897;23533228;21682876;21351529;21497178;21717404;20301509;23189990;22801565 3730 P23352 ABBA01070639;ABBA01070640;ABBA01070641;ABBA01070642;ABBA01070643;ABBA01070644;ABBA01070645;ABBA01070646;ABBA01070647;ABBA01070648;ABBA01070649;ABBA01070650;ABBA01070651;ABBA01070652;ABBA01070653;ABBA01070654;ABBA01070655;ABBA01070656;ABBA01070657;ABBA01070658;ABBA01070659;ABBA01070660;ABBA01070661;AC005184;AC006062;AC096511;AI582702;AMYH01022062;BC137426;BC137427;CH471074;CN417843;M97252;NG_007088;NM_000216;S60085;S60088;X60299;X82034 AAA59202;AAB20108;AAI37427;AAI37428;CAA42841;CAA57554;EAW98759;NP_000207;P23352 Hs.521869 1679475;1702062;1702666;1728907;1730471;1730473;1745861;1745863;1787394;1796152;2144374;2166196;2167211;2188357;2188377;5022859;5022953;5115960;5115964;5116018;5116020 DXS1090;DXS1091;DXS7053;DXS7714;G42691;G66217;G66228;GDB:293971;GDB:293973;GDB:679268;GDB:679271;KAL1_177;KALP-6;RH38682;SHGC-12678;SHGC-172120;sY1758;sY1759;sY1762;sY1889;sY1890 ADMLX;HH1;HHA;KAL;KALIG-1;KMS;WFDC19 Kallmann syndrome interval gene 1;Kallmann syndrome-1 sequence (anosmin-1);OTTHUMP00000022873;WAP four-disulfide core domain 19;adhesion molecule-like X-linked;anosmin-1;kallmann syndrome protein APPROVED protein-coding ENSG00000011201 6211 02393 300836;308700 REVIEWED 735346 JUND jun D proto-oncogene The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. It has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternate translation initiation site usage results in the production of different isoforms. [provided by RefSeq, Jul 2008] 19 19 p13.2 18251570 18253432 - 18390563 18392432 - 1580863;2293758;6480464;6484113;6907045 9405228 1903194;19470832;19211927;19166930;18952102;18562690;18454173;18443593;18386285;18321953;18095154;18078517;18071306;17681951;17651017;17495958;17205062;17204476;17081983;16423552;16264271;16129800;16007120;15563473;15507668;15302935;15044019;14559791;12727841;12615916;12477932;12226747;12193410;12165517;12105216;12082101;12080089;12054733;12052862;12052834;12032852;11903046;11221882;10942775;10934195;10713367;10523647;10220381;9989505;9872330;9739985;8945519;8889548;8837781;8570175;8432525;8152431;8125298;7848298;2112242;1899335;18671972;9154808;15706351;10500243;15688015;21145461;17510411;21315773;21559334;11431474;11477071;14676207;15867431;17577209;16651450;23289756;23382074;21473742;8654373;21393445;21937452;19322201;19471022;21693764;21734453;21906983;22327296;22493372;22696638 3727 P17535 ABBA01051255;ABBA01051256;ABBA01051257;AC008397;AK223630;AMYH01009588;AMYH01009589;CA502969;CH471106;EF044249;NM_005354;X51346;X56681 AAI69272;AAI69273;AAI69274;ABJ53425;BAD97350;CAA35739;CAA40010;EAW84684;NP_005345;P17535 Hs.2780 1792618;1793064;2147558;5017805 G15878;JUND;PMC155158P1;PMC193924P4 AP-1 JunD-FL isoform;activator protein 1;transcription factor jun-D APPROVED protein-coding ENSG00000130522 6206 01304 165162 REVIEWED 737195 JUNB jun B proto-oncogene 19 19 p13.2 12763310 12765125 + 12902310 12904125 + 1580863;2293758;2293780;6480464;6484113 9405228;14674993 2513129;19151755;18977241;18843287;18628455;18424718;18391017;17965727;17690253;17681951;17601350;17495958;17306025;17204476;17081983;16880520;16552541;16189514;15507668;15489334;15302935;15231748;14499865;12907627;12907453;12592382;12522006;12506033;12477932;12393503;12165517;12145210;12080089;11726656;11477071;11036094;10903323;10777209;10764760;10220381;9889198;9872330;9405416;9154808;8917518;8649827;8570175;8530030;8432525;8125298;2112242;1899335;12371906;1633872;1406655;8954125;8945519;11053448;15240010;21289643;15867431;18029348;19409613;19666408;19923172;20006998;20056077;20132737;9128241;14673171;15025563;15308641;17510411;21225234;21326808;8654373;20030915;21393445;21937452;22242598;22020339;19471022;20200942;21693764;21906983;22252121;22328780;18259752;23308222;2366175;18042260;21423810;19064921;19321746;20195357;21822216;21963094;21988832;22710716;23000965 3726 P17275;Q5U079 ABBA01029773;AC018761;AK222532;AK313737;AMYH01009496;AY751746;BC004250;BC009465;BC009466;BT019760;CH471106;M29039;NM_002229;U20734;X51345 AAA59198;AAA74915;AAH04250;AAH09465;AAH09466;AAU43800;AAV38565;ABM83947;ABM87265;BAD96252;BAG36478;CAA35738;EAW84307;NP_002220;P17275 Hs.25292 1770924;1793016;5092622 A005B41;G32220;PMC186344P1 AP-1 activator protein 1;transcription factor jun-B protein-coding ENSG00000171223 6205 01303 165161 VALIDATED 734356 JUN jun proto-oncogene This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008] 1 1 p32-p31 59019051 59022373 - 59246463 59249785 - 1580863;1549443;2290482;2290481;2290480;2293758;2290478;2290479;2290484;4889994;4890001;2290593;4890002;4889999;6480464;6484113;6907045 16006965;10684716;15800680;16413376;9405228;17634427;16733206;9748134;21132399;19158123;10719210;18620825;19737230 20977688;9732876;9443941;11804590;2825349;10973489;16007074;9030721;10918580;19435822;19433309;19334540;19306295;19281909;19258923;19249008;19238531;19219074;19215067;19206162;19193763;19176525;19166930;19165171;19164581;19131506;19123467;19035162;19028685;19022561;19020743;19018257;19015316;18992165;18957410;18952102;18950845;18940179;18936204;18931081;18923650;18845538;18844221;18838675;18805449;18775869;18757369;18725194;18708361;18692129;18664273;18653705;18653452;18650425;18644981;18621151;18619508;18617512;18600430;18597608;18572021;18570890;18543249;18515365;18497564;18494816;18487146;18485515;18467434;18448277;18443043;18443042;18435914;18414033;18410487;18384814;18352974;18351441;18347071;18322962;18316603;18316037;18281687;18262488;18253836;18239671;18234454;18192274;18180316;18180292;18174157;18172215;18171671;18073204;18065414;18062835;18032824;17978573;17968316;17952113;17940019;17920329;17914574;17845581;17804415;17761353;17703412;17702894;17681951;17672916;17658605;17652081;17651785;17639289;17637753;17636030;17588603;17510314;20459032;22399296;17506864;17495958;17466952;17403042;17401435;17390236;17317669;17314269;17283046;17283040;17237407;17237388;17235455;17215518;17130130;17121851;17101801;17097050;17088247;17085440;17074809;17009014;16980310;16951171;16928756;16911523;16905771;16895791;16887814;16844113;16786139;16710414;16702224;16690925;16676006;16620772;16586042;16582099;16571680;16569638;16410250;16380075;16361535;16343055;16341687;16328781;16303762;16289409;16285957;16253992;16243842;16236267;16223572;16199533;16158054;16140218;16123044;16055710;16049073;16023596;15994313;15991283;15944151;15941782;15936718;15923644;15923621;15922298;15897893;15894171;15870692;15863510;15840658;15746191;15718494;15708845;15702969;15701643;15654976;15642950;15586248;15579469;15550679;15544846;15530430;15528994;15514030;11903046;11891317;11891228;11877416;11867732;11823437;11801649;11739718;11708771;11704680;11689449;11641401;11551904;11477071;11448159;11432833;11397794;11371641;11331585;11316804;11278891;11278640;11278277;11274169;11260070;11254713;11053448;11022789;10878360;10799874;10644332;10637231;10523647;10509564;10506225;10497212;10490649;10488148;10478848;10428834;10421840;10357819;10330159;10220381;10196196;10188588;10026157;9872330;9786917;9685505;9671405;9670954;9642216;9628874;9621077;9566900;9545246;9510247;9488446;9468519;15507668;15489334;15480426;15469925;15385474;15383523;15378002;15351693;15333603;15314185;15314183;15302935;15302867;15271374;15262961;15249231;15226448;15191540;15158360;15087451;15034932;15001576;14739464;14667575;14654548;14652666;14645224;14638681;14532268;14530285;14522952;14511403;14500675;12963995;12963547;12954631;12949493;12909593;12875982;12853483;12815619;12805554;12799614;12798298;12700665;12692226;12682910;12618758;12615916;12600818;12592382;12554755;12547826;12485413;12477932;12446585;12441106;12437352;12186939;12183893;12167088;12165517;12145210;12119282;12091339;12087103;12080089;12077347;12052862;12034730;11983170;11956220;11948398;11914583;11912197;11909859;22139817;9445037;9405416;9346889;9334186;9235954;9223324;9211894;9154808;9129988;8974016;8837781;8798722;8763994;8733011;8663478;8663380;8662824;8654373;8649793;8628277;8617242;8570175;8557686;8464713;8440710;8397339;8387155;8380166;8302594;8137421;8108109;8087846;7848298;7823959;7816143;7738014;7690421;7666555;7662174;3194415;2320002;2138276;1922387;1827203;1651323;1631061;1516134;1448082;1310896;12775419;12089333;10581001;10027715;16179804;16001969;7642615;8621941;7957556;12419805;10388555;8480425;15258149;18716056;18671972;8027667;8622660;9160889;9681824;14633987;12052834;11479302;9774977;9207092;8621542;8586671;12419228;10777532;10847592;10567404;11331419;8945519;9837938;10903323;11287617;14506227;16023595;16007099;15806162;15706351;15696159;9155018;9020136;8816797;8816798;9374537;15688015;21895606;22189957;22271085;22512945;22597534;22685373;22791811;15674337;15240010;15175153;21439937;20543003;20225236;20306472;20353996;20430872;19913121;20051654;20331627;20505831;20507572;20510020;20531301;20590529;20628086;20628624;20683948;20688351;21148792;21268080;10346818;10567391;11431474;11738026;12676957;14645924;14701856;15334056;15626733;15867431;16291755;16511568;16533805;16901904;16983342;17110928;17592138;18165900;19231233;19357699;19384981;19495976;19499154;19513521;19528235;19531482;19578717;19591174;19595408;19616043;19653276;19654329;19714312;19723051;19734233;19734545;19758340;19758438;19782465;19787273;19794957;19795388;19806201;19811296;19837979;19841138;19859790;19860880;19874574;19878434;19885545;19898747;19910471;19921846;19937141;19937979;19939924;19944700;19959471;19965873;20044606;20053993;20074357;20093361;20102411;20133937;20185758;20193273;20198339;20331972;20331980;20333648;20353950;20371606;20395206;20432452;20483790;20503287;2833704;7623830;8224842;9973222;20508969;20607803;20837772;18304423;19105933;20939893;20222112;20482821;16880509;16980615;17056544;17082780;18823944;20619956;20952681;20170659;20448330;20698984;18646516;20557936;14973137;16045761;17538020;22318606;22327296;22508041;11980644;21145111;19701800;20227498;20519498;20554528;16569633;16714286;16740711;17182846;20936779;15276183;16478997;16611996;20203690;20511396;20665665;20942798;10747973;12963725;17296604;19527717;22110360;22266871;22771387;22860098;22879913;22981541;23041974;23047699;20232342;20304822;20410304;21196933;21381700;21410405;21417953;20680410;20976196;21034562;21081472;21106746;10788439;17438848;21357535;21451046;19919900;20943203;11306568;21030269;21081043;21106530;21134350;20955203;9659924;21364631;21526160;21289643;21454713;21212516;13130464;17189706;19910486;22328508;8001819;23300800;21349840;17908424;19156129;19656241;20479762;20852630;21697091;21699750;21703547;21972703;21393476;21397653;21570970;21530485;21835421;10207054;21640141;21685329;21739277;21799768;21822357;21862593;19738058;20376080;20479273;21559334;21647439;20137127;21617851;21860413;22688014;22988241;23153494;23661758;22966201;23027969;23028371;21360282;10327051;19343052;19861239;21814482;21835891;10419510;21338584;21511059;21617575;21989944;22083952;21518489;21745629;18445313;22001392;18302882;21937452;22394497;22438909;19080373;19358752;21139048;21555589;21565167;21693764;21890473;22092038;10962563;12628923;14701799;15044437;15590691;15958389;15994960;18957422;19818398;21829441;22384197;22384232;22119392;17704768;21675959;22417306;10393177;10913197;19471022;21350237;21496208;21732343;21743958;21801875;22002117;22051934;22176144;22235337;22239235;22265050;22307329;22331067;22354960;22132731;22271878;22429882;16266514;12185592;12228228;12796506;14517282;14572659;14612408;14675752;16434970;16916642;9575168;9692890;10620019;10766246;10903862;11090181;12324474;15299005;16157600;18922473;19270716;20093369;22675553;8985011;12697749;16549498;17363973;17875713;18429822;18985028;20195357;20697347;21988832;22933572;8846788;22570239;22853846;23135283;23223231;23608488;11278395;19064921;23226410;23625009;10490605;11108663;15319445;15749833;18097055;20012528;20042607;20732415;21607373;22077140;22450687;22801218;22843696;9808624;12788955;23614275;23624934;22911824;23236059;15677475;16166642;16824735;22974165;23382074;18003900;23546882;22749179 3725 P05412;Q6FHM7 ABBA01074656;AL136985;AMYH01000658;AY217548;BC002646;BC006175;BC009874;BC068522;BG831943;BI793062;BT019759;BU782554;CD370800;CH471059;CR541724;CR541752;CS542415;J04111;NM_002228 AAA59197;AAH06175;AAH09874;AAH68522;AAO22993;AAV38564;ABM87431;CAG46525;CAG46552;CAM91157;EAX06628;NP_002219;P05412 Hs.696684 1791870;1791930;1792470;1792558;1794786;1796150;2120470;2130040;2166674;2181300;5018907 D1S3319;D5Lev15;G15909;JUN_454;PMC129043P1;PMC133732P5;PMC151710P1;PMC153970P1;PMC55707P1;RH68404;RH68524 AP-1;AP1;c-Jun Jun activation domain binding protein;OTTHUMP00000010036;activator protein 1;enhancer-binding protein AP1;jun oncogene;p39;proto-oncogene c-Jun;transcription factor AP-1;v-jun avian sarcoma virus 17 oncogene homolog;v-jun sarcoma virus 17 oncogene homolog APPROVED protein-coding ENSG00000177606 6204 01302 165160 REVIEWED 1350579 KAAG1 kidney associated antigen 1 6 6 6 p22.1 25590506 25591887 + 24465110 24466491 + 24357131 24358512 + 1580863 10601354;15489334;14574404;12477932 353219 Q9UBP8 ABBA01066533;AF181720;AF181722;AL359713;AMYH01016149;BC119739;BC119740;NG_012829;NM_181337 AAF23611;AAF23613;AAI52887;NP_851854;Q9UBP8 Hs.697888 1792856 PMC166143P13 MGC78738;RU2AS OTTHUMP00000016084;RU2 antisense gene protein;kidney-associated antigen 1 protein-coding ENSG00000146049 21031 09741 608211 VALIDATED 732396 JUP junction plakoglobin This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008] 17 17 q21 37164390 37196475 - 39910859 39942964 - 1600286;1580863;2291873;2291872;2291883;2291890;2291864;2291880;2291866;2291876;2291882;2301235;2301748;2301746;2301747;2301745;2289818;2291881;6480464;6484113;6907045;7240710 10902626;11276001;11956097;17008277;9891472;15781623;9783980;15701841;10206308;16610682;14670177;11585741;15619205;12635138;17633921;17363521;7604000 1639850;8663237;19348003;18937352;18837082;18568994;18469796;18245958;17998942;17924338;17081983;17002498;16537559;16306047;16189514;15951569;15942628;15916880;15231748;14739224;14661058;14661054;14517306;12939402;12847106;12808048;12604612;12477932;12386812;12370829;12068170;12003790;11984022;11790773;11711551;11710948;11707392;11348595;11274246;11136974;11016852;10959047;10803460;10801826;10769211;10769205;10488109;9739078;9606214;9443898;9348293;9298899;9245795;9168809;9139698;9110993;8749329;8743961;8576101;8314871;8207061;7971964;7890674;7876318;7738346;7702605;7650039;2726765;1889810;9762469;9434630;14625392;9535896;8074697;7542250;7651399;16169070;12639940;12707304;10910767;17353931;11712088;12426320;21145461;21319273;20529814;20529828;20859650;22276604;22315228;10403777;10460003;10825188;10868478;11226248;19060904;19584275;19615732;20031617;20101217;20130592;20400443;7806582;7983064;21075858;20525856;20936779;20737155;20864495;14673151;21158719;21059263;22454524;22860065;22939629;16335966;18781797;19815544;21139048;21182205;22863883;21859801;22098624;21906983;21963094;21987572;19805454;20933443;21988832;22858986;23110151;22365833;22046445;20301310;22496452;23398456;23326490;23455922;23718855;21781455;22521077;22797925;22952844;16917092 3728 C9J826;C9JK18;C9JKY1;C9JPI2;C9JTX4;F5GWP8;K7ERP3;P14923 ABBA01006451;ABBA01006452;AC109319;AF233882;AF306723;AJ249711;AK226051;AMYH01008387;AY243535;BC000441;BC011865;CH471152;CS673474;CS690857;D50808;FB665610;GM706822;M23410;NG_009090;NM_002230;NM_021991;Z68228 AAA64895;AAG16727;AAH00441;AAH11865;AAO85780;ABM82346;ABM85520;BAA09435;CAA92522;CAC04246;CAP07504;CAP11472;CAR97086;CAT82323;EAW60762;EAW60763;EAW60764;EAW60765;NP_002221;NP_068831;P14923 Hs.514174 1669852;1729033;2161765;2162593 G07167;Jup;RH17679;SHGC-30259 ARVD12;CTNNG;DP3;DPIII;PDGB;PKGB OTTHUMP00000164732;OTTHUMP00000164735;OTTHUMP00000164738;catenin (cadherin-associated protein), gamma (80kD);catenin (cadherin-associated protein), gamma 80kDa;catenin gamma;desmoplakin III;desmoplakin-3;gamma-catenin;junction plakoglobin APPROVED protein-coding ENSG00000173801 6207 01414 173325;601214;611528 REVIEWED 1352192 KANK2 KN motif and ankyrin repeat domains 2 19 19 19 p13.2 11169761 11203056 - 11135946 11167496 - 11274943 11308243 - 737633;6480464 12477932 17996375;17476305;17081983;16344560;15489334;15146197;14702039;12107410;10819331;8125298;19554261;21163940;19738201;23505323;20360068;21906983;22797925;22952844 25959 K7EIU4;K7EL48;K7ERU2;K7ES05;Q63ZY3 AB040951;AB284125;ABBA01029868;ABBA01029869;AC009000;AC011485;AK000011;AK002094;AK023332;AK225038;AL117489;AL701379;AMYH01009483;AY639929;BC019078;BC030030;BC032745;BC049201;BC082762;BC098105;BC098286;BC098312;BC105989;BQ007409;BQ631109;CA394858;CH471106;CN306249;CR457388;DA889034;DA991654;DB282630;NM_001136191;NM_015493 AAH82762;AAH98105;AAH98286;AAH98312;AAI05990;AAT57879;BAA90882;BAA92081;BAA96042;BAB14531;BAG06864;CAB55958;CAG33669;EAW84175;EAW84176;EAW84177;EAW84178;NP_001129663;NP_056308;Q63ZY3 Hs.284208;Hs.723365;Hs.744940 1847687;1914154;2160045;5014019;5015404;5015861;5015961;5017170;5020740;5021228;5022425;5022578;5024413;5037552;7185938 D10S16;D15S1477;D1S1423;D22S296;D5S2354;D8S2279;GDB:312794;L17705;L17809;L17877;L29953;REN27886;RH45741;STS-W84522 ANKRD25;DKFZp434N161;FLJ20004;KIAA1518;MGC119707;MXRA3;SIP KN motif and ankyrin repeat domain-containing protein 2;SRC-1 interacting protein;SRC-1-interacting protein;SRC-interacting protein;SRC1-interacting protein;ankyrin repeat domain 25;ankyrin repeat domain-containing protein 25;kidney ankyrin repeat-containing protein 2;matrix-remodeling-associated protein 3;matrix-remodelling associated 3 protein-coding ENSG00000197256 29300 12463 614610 VALIDATED 5688525 KANSL1-AS1 KANSL1 antisense RNA 1 17 q21.31 44270939 44274089 + 12477932;19915575;8889548 644246 Q8WW58 ABBA01031206;AC005829;AC127032;AC139677;AC217773;AMYH01008444;BC020847;BC066350;CK300829;NG_032784;NR_034172 AAH20847 Hs.644600 1687415;2126418;2155955 G17974;RH91855;SHGC-57555 APPROVED miscrna ENSG00000214401 43740 VALIDATED 1601887 KALRN kalirin, RhoGEF kinase Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 q21.2 125296275 125922726 + 123813558 124440036 + 6480464;6484113;7240710 9285789;10023074;18839057;18199770;17851188;17640372;17357071;16964243;16713569;16620772;16344560;15950621;15489334;14742910;14702039;12546821;12477932;11891045;11181995;10777487;10737800;9139723;8889548;14623284;22194219;20730383;11756498;12376548;12787561;18936096;19706030;19807924;20080650;20107840;20379614;21041834;20604901;15272420;18953434;17043677;21078624;21664346;22458949;22120753;22889411;22429885;10518015;22139419;22720673 8997 C9IYX8;C9IZQ6;C9J1B4;E7EUZ8;H7BXZ5;H7C0I9;H7C1X7;J3QSW6;O60229 AB011422;ABBA01016433;ABBA01016434;ABBA01016435;ABBA01016436;ABBA01016437;ABBA01016438;ABBA01016439;ABBA01016440;ABBA01016441;ABBA01016442;ABBA01016443;ABBA01016444;AC022336;AC069233;AC080008;AC112129;AC117401;AI024603;AK022394;AK123068;AK125979;AK126954;AK128223;AK131379;AK296657;AK311154;AK311581;AK314126;AL137629;AMYH01013435;AMYH01013436;AMYH01013437;AMYH01013438;BC026865;BC037924;BC058015;BM930007;BQ345377;CB045666;CH471052;DA756158;DB450617;NG_012742;NM_001024660;NM_003947;NM_007064;NR_028136;U94190 AAC15791;AAH26865;AAH58015;AAI66705;BAA76314;BAC86373;BAD18530;BAG59254;CAB70850;EAW79410;EAW79414;EAW79415;EAW79416;EAW79417;EAW79418;EAW79419;EAW79420;EAW79421;EAW79422;EAW79423;NP_001019831;NP_003938;NP_008995;O60229 Hs.8004 1335013;1336196;1336734;1339257;1341424;1666160;1701174;1707878;1708156;1721973;1724829;1728045;1751743;1752605;1756361;1758139;1759677;1762163;1770228;1853743;2115720;2128131;2163578;2183814;2187229;2219118;5016781;5019569;5021910;5037552;7186080 AU047679;D3S1269;D3S1765;D3S2322;D3S2460;D3S3384;D3S3646;D3S4197;D8S2279;G16605;G31014;G59872;G63293;HAPIP__6692;RH104215;RH123675;SHGC-105715;SHGC-106416;SHGC-143337;SHGC-146054;SHGC-147506;SHGC-151006;SHGC-67307;SHGC-77292;SHGC-77293;SHGC-79325;SHGC-82179;STS-R40615;WIAF-2074;ha2793 ARHGEF24;CHD5;CHDS5;DUET;DUO;FLJ12332;FLJ16443;FLJ18196;FLJ18623;HAPIP;TRAD OTTHUMP00000155215;OTTHUMP00000165774;OTTHUMP00000165775;OTTHUMP00000215857;huntingtin-associated protein interacting protein (duo);kalirin;serine/threonine kinase with Dbl- and pleckstrin homology domains;serine/threonine-protein kinase with Dbl- and pleckstrin homology domain APPROVED protein-coding ENSG00000160145 4814 06859;12169 604605;608901 REVIEWED 1317065 KANK1 KN motif and ankyrin repeat domains 1 The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseuodgene has been identified on chromosome 20. [provided by RefSeq, Mar 2012] 9 9 p24.3 494703 736103 + 470294 746106 + 2315654;6480464;7240710 12133830 19506219;18458160;18029348;17996375;16968744;15823577;15596059;15489334;15231748;15164053;12477932;8724849;19171758;19559006;19834503;20164854;20379614;19554261;16344560;20360068;22084092;21685469;15342556;20073072;22321011;22424883;22876580;22952844 23189 A8KAC4;Q14678;Q5W0W1;Q5W0W2;Q5W0W3;Q6PIB3 AB205106;AB205107;AB205108;AB205109;AB205110;AB205111;AB205112;AB205113;ABBA01065454;ABBA01065455;ABBA01065456;AK025428;AK025636;AK026421;AK290028;AK292989;AK311119;AL039663;AL136979;AL161725;AL392089;AL832454;AL833015;AL833161;AMYH01019175;AMYH01019176;AMYH01019177;AW296327;BC020040;BC037495;BC038116;BP287167;BX648931;CH471071;D79994;DA457624;NG_016331;NM_001256876;NM_001256877;NM_015158;NM_153186 AAH20040;AAH37495;AAH38116;BAA11489;BAD97395;BAD97396;BAD97397;BAD97398;BAD97399;BAF82717;BAF85678;CAD90003;CAH56292;EAW58821;EAW58822;NP_001243805;NP_001243806;NP_055973;NP_694856;Q14678 Hs.306764 1341653;1651529;1674900;1695466;1696476;1735726;1752689;1755529;1758737;1762489;1762695;1774619;1774964;1787140;2120068;2170671;5020946;5022200;5022450;5022578;5022588;5022651;5037552;5092916;5125275 A009C13;D10S275;D11S2921;D1S1423;D5S1597E;D8S1344E;D8S2279;D9S1858;G32411;HSC2FF032;L17971;L18426;RH118407;RH45283;RH48945;RH70155;SHGC-106538;SHGC-142384;SHGC-146309;SHGC-146489;SHGC-150818;SHGC-155656;SHGC-79801;STS-AA004761;WI-16217 ANKRD15;CPSQ2;DKFZp451G231;FLJ18161;KANK;KIAA0172;MGC43128 KN motif and ankyrin repeat domain-containing protein 1;OTTHUMP00000020957;OTTHUMP00000020959;OTTHUMP00000082438;OTTHUMP00000082439;ankyrin repeat domain 15;ankyrin repeat domain-containing protein 15;kidney ankyrin repeat-containing protein APPROVED protein-coding ENSG00000107104 19309 09651 607704;612900 REVIEWED 1602171 KANK3 KN motif and ankyrin repeat domains 3 19 19 19 p13.2 8243994 8264638 - 8293468 8314146 - 8387468 8408146 - 6480464 17996375;15489334;14702039;12477932;9110174;8619474;19554261 256949 M0QZJ3;Q6NY19 AB284126;ABBA01010850;ABBA01010851;ABBA01010852;AC010323;AK128815;AMYH01009439;AMYH01009440;AY203940;BC035849;BC066124;BC066775;CH471139;NM_198471 AAH35849;AAH66124;AAH66775;AAP34463;BAC87620;BAG06865;EAW68932;NP_940873;Q6NY19 Hs.322473 1669246;1739529;1762785;1772769;1849595;2165238 D19S816;RH78597;RP_S28_1;SGC30650;SHGC-146566;WI-17737 ANKRD47;FLJ46061 KN motif and ankyrin repeat domain-containing protein 3;ankyrin repeat domain 47;ankyrin repeat domain-containing protein 47;kidney ankyrin repeat-containing protein 3 protein-coding ENSG00000186994 24796 13520 614611 VALIDATED 4889280 KARSP1 lysyl-tRNA synthetase pseudogene 1 13 13 23557381 23559334 + 42499708 42501661 + 100419558 ABBA01021262;AL442203;AMYH01005068;NG_024918 2132534;2191023 MARC_13466-13467:1002299828:1;SHGC-61044 pseudo 39207 INFERRED 4889279 KARSP2 lysyl-tRNA synthetase pseudogene 2 13 13 94610726 94612344 + 113784736 113786354 + 100419560 ABBA01019861;AL137002;AMYH01005396;NG_024951 1806480;1808834;1809506;1809976;1895416;1895418;1895420;1895422;1895424;1895426;1895428;1895430;1895432;1895434;1895436;1895438;1895440;1895442;1895444;1895446;1895448 ECD04197;ECD05400;ECD05745;ECD05980;REN18493;REN18494;REN18495;REN18496;REN18497;REN18498;REN18499;REN18500;REN18501;REN18502;REN18503;REN18504;REN18505;REN18506;REN18507;REN18508;REN18509 pseudo 39208 INFERRED 1603552 KANK4 KN motif and ankyrin repeat domains 4 1 1 1 p31.3 60990829 61074105 - 62474425 62557671 - 62701837 62785083 - 6480464 17996375;16710414;15489334;14702039;12477932;19554261;20972266 163782 B1ALP5;B1ALP6;Q5T7N3 AB284127;ABBA01074603;ABBA01074604;ABBA01074605;AK091941;AK096259;AK127461;AL139343;AL162739;AL832644;AMYH01000666;BC033147;BC041418;BC060866;CH471059;NM_181712 AAH41418;AAH60866;BAC03774;BAC04741;BAG06866;BAG54508;CAD89966;EAX06587;EAX06588;EAX06589;NP_859063;Q5T7N3 Hs.283398 1715637;1857059;2167281 AL009732;RH119263;SHGC-74926 ANKRD38;FLJ10884;KIAA0172;RP5-1155K23.5;dJ1078M7.1 KN motif and ankyrin repeat domain-containing protein 4;OTTHUMP00000010526;OTTHUMP00000010527;OTTHUMP00000010528;ankyrin repeat domain 38;ankyrin repeat domain-containing protein 38;kidney ankyrin repeat-containing protein 4 protein-coding ENSG00000132854 27263 14109 614612 VALIDATED 4889169 KARSP3 lysyl-tRNA synthetase pseudogene 3 16 16 16 q22.1 52544798 52547369 - 66593815 66600864 - 68036326 68038354 - 100132079 ABBA01025469;ABBA01025470;AC040162;AMYH01007754;NG_028877 pseudo 39209 INFERRED 1605247 KANSL1 KAT8 regulatory NSL complex subunit 1 This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012] 17 17 17 q21.31 40754596 40917505 - 41463127 41605371 - 44107282 44302740 - 6480464 16189514;18029348;11256614;18509094;15489336;15489334;15302935;16381901;14702039;12477932;11641718;11230166;11076863;10574462;16543150;17694080;20018852;20837706;15960975;19854137;20936779;16227571;16344560;22939629;15231748;22544367;17043677;20360068;21502505;20301783;21906983;21217699;22504418;23455924 284058 E9PCT4;I3L233;I3L243;I3L4J3;Q7Z3B3 AB033093;ABBA01031198;ABBA01031199;ABBA01031200;ABBA01031201;ABBA01031202;ABBA01031203;ABBA01031204;ABBA01031205;ABBA01031206;ABBA01031207;ABBA01031208;ABBA01031209;AC004139;AC005829;AC127032;AC217772;AC217773;AC217779;AI253068;AK094946;AK291259;AL117476;AL137317;AMYH01008444;BC035892;BC098376;BX538006;BX648760;CH471233;CR936218;DA010621;NG_032784;NM_001193465;NM_001193466;NM_015443 AAH35892;AAH98376;BAA86581;BAF83948;BAG52961;CAB55949;CAB70694;CAD97958;CAH10565;CAL37692;CAL38562;EAW93576;EAW93577;NP_001180394;NP_001180395;NP_056258;Q7Z3B3 Hs.648744 1659170;1670964;1687415;1688672;1713447;1721445;1752635;1773497;2125279;2126418;2139585;2155955;2174502;2183329;5015619 D11S3114;G17974;G59574;L18229;RH119581;RH45582;RH48560;RH91855;RH93550;SHGC-106446;SHGC-33952;SHGC-57555;SHGC-63641;STS-AA028958;WI-16100 CENP-36;DKFZp686P06109;DKFZp727C091;KDVS;KIAA1267;MGC102843;MSL1v1;NSL1;hMSL1v1 KAT8 regulatory NSL complex subunit 1;MLL1/MLL complex subunit KANSL1;MLL1/MLL complex subunit KIAA1267;MSL1 homolog 1;NSL complex protein NSL1;centromere protein 36;hypothetical protein LOC284058;male-specific lethal 1 homolog;non-specific lethal 1 homolog APPROVED protein-coding ENSG00000120071 24565 11254 610443;612452 REVIEWED 1606446 KANSL1L KAT8 regulatory NSL complex subunit 1-like 2 2 2 q34 204653461 204804052 - 210593680 210744296 - 210885435 211036051 - 6480464 14702039;12477932;12107410;8889548;16227571 151050 A0AUZ9;H7BZ78;H7C1T2;H7C2S5;I6L9A8 ABBA01062733;ABBA01062734;AC006994;AC007038;AI679696;AK056911;AK074441;AK124324;AK124963;AK308432;AL133053;AMYH01011461;AMYH01011462;BC032837;BC070141;BC090854;BC126155;BC143914;BM974116;BQ441909;BQ948513;CA393360;CH471063;NM_152519 A0AUZ9;AAH32837;AAH70141;AAI26156;AAI43915;AAX93088;AAY14880;BAB71308;BAB85085;CAB61379;EAW70475;EAW70476;EAW70477;EAW70478;EAW70479;NP_689732 Hs.282260;Hs.591638 1337451;1665271;1676041;1688544;1690654;1715137;1734914;1850829;2152178;2171093 D2S1686E;D2S254;RH119521;RH12115;RH18489;RH35957;RH79974;RH91925;RH92726;SHGC-33506 C2orf67;FLJ23861;MSL1v2 KAT8 regulatory NSL complex subunit 1-like protein;OTTHUMP00000206446;OTTHUMP00000206449;hypothetical protein LOC151050;male-specific lethal 1 homolog;uncharacterized protein C2orf67 APPROVED protein-coding ENSG00000144445 26310 08679 613833 VALIDATED 1316319 KAT2A K(lysine) acetyltransferase 2A KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009] 17 17 q21 37518655 37526908 - 40265129 40273382 - 1580863;6480464;6907045 10373431;11564863;12887892;8552087;18206972;19343071;19339690;19124466;18936164;18842595;18838386;18418385;18250157;17967894;17301242;16260778;15715965;15592455;14767476;14657027;12660246;12477932;12391296;22086303;12374802;12154097;11956210;11931763;11438666;11406595;11384967;11090279;10747963;10611234;9742083;9722949;9611240;9488450;9073520;8972232;8684459;7670491;10022868;11839798;15115762;16494529;17643375;17664281;19491097;19615732;19683498;20226045;20937768;15561718;21746879;16510874;11964378;12878208;16122695;16287840;21131905;11418595;15001660;15009097;15932940;18089809;18250150;17375202;20224553;21367571;20508642;20534441;20946988;19377461;21988832;23022381;23382074;23543735;15899866;22055187;20691906;22318606;22465951;21890473;21987584;12601814;21725360;19773423;22542455;19843541;21828133;22574209;16096645;18187620;19716452;20138641;20227660;23044487;22623781;23033487 2648 K7EPC4;K7ERS6;Q92830 ABBA01006436;AC105024;AF029777;AMYH01008391;BC032743;BC039907;BC105977;CH471152;DB497139;NM_021078;U57316 AAC39769;AAC50641;AAH32743;AAH39907;AAI05978;EAW60801;EAW60802;EAW60803;NP_066564;Q92830 Hs.463045 1650796;2109339;2180493;2220644;5019631;5491647 A005Q17;G32267;GCN5L2_3982;MARC_4611-4612:966894521:1;SHGC-31964;UniSTS:486977 GCN5;GCN5L2;MGC102791;PCAF-b;hGCN5 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 2;General control of amino acid synthesis, yeast, homolog-like 2;OTTHUMP00000164769;STAF97;general control of amino acid synthesis protein 5-like 2;histone acetyltransferase GCN5;histone acetyltransferase KAT2A;hsGCN5;lysine acetyltransferase 2A APPROVED protein-coding ENSG00000108773 4201 03807 602301 VALIDATED 1604339 KANSL3 KAT8 regulatory NSL complex subunit 3 2 2 2 q11.2 91700119 91745338 - 96622638 96667810 - 97258892 97304116 - 6480464 16381901;16344560;15489336;15302935;14702039;12477932;11256614;11230166;11076863;10718198;16169070;16543150;17694080;20018852;20360068;15342556;16712791 55683 C9J491;C9J5A4;C9JF16;E7EU88;F8W894;F8WB58;F8WD76;F8WEN2;M0R3B6;Q96L64 AA526958;AB037731;ABBA01036587;AC079754;AF311326;AI824694;AK000943;AK023813;AK074379;AK091163;AK302646;AK304011;AK311617;AK314367;AL136849;AMYH01010726;AY050169;BC015469;BC024276;BC032746;BC051763;BC063792;BC127820;BP310677;BQ063147;CB123459;CH471207;DB133508;DB275425;DB276915;NM_001115016;NR_047653;NR_047654;NR_047655;NR_047656;NR_047657;NR_047658 AAG33852;AAH15469;AAH32746;AAH51763;AAH63792;AAI27821;AAL13159;AAX88890;BAA91437;BAA92548;BAB14688;BAG36997;BAG63887;BAG64926;CAB66783;CAL37956;CAL38587;EAW71347;EAW71348;EAW71349;EAW71350;EAW71351;EAW71352;EAW71353;EAW71354;EAW71355;EAW71356;EAW71357;EAW71358;NP_001108488;Q9P2N6 Hs.516341 1340534;1649962;1649964;1671308;1734744;1739905;1769007;1854785;2118838;5037552;5118444;7185441 A002A10;D11S3316;D2S113;D2S1536E;D2S1685E;D2S2120;D8S2279;G19842;G29973;RH47905;RH65669 FLJ10081;FLJ23799;KIAA1310;NSL3;Rcd1 KAT8 regulatory NSL complex subunit 3;NSL complex protein NSL3;OTTHUMP00000207551;OTTHUMP00000207554;OTTHUMP00000207555;OTTHUMP00000207556;OTTHUMP00000207557;OTTHUMP00000207558;hypothetical protein LOC55683;non-specific lethal 3 homolog;serum inhibited-related protein;testis development protein PRTD;uncharacterized protein KIAA1310 APPROVED protein-coding ENSG00000114982 25473 07643 VALIDATED 1314209 KAT2B K(lysine) acetyltransferase 2B CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008] 3 3 p24 20056528 20170900 + 20081524 20195896 + 1580863;5147892;6480464;6484113;6907045 11306337 22547391;12887892;12435739;8684459;10365964;18669648;11250901;10891508;19351588;19188449;19176998;19158279;19084499;19056724;19015268;18957410;18950845;18838386;18834332;18782771;18710935;18697823;18663001;18660489;18599479;18574470;18497079;18443043;18400184;18250157;18247445;17982102;17908689;17884818;17882273;17611664;17468105;17317667;17293853;17226766;16904069;16878158;16829519;16696975;16630892;16543236;16415179;16332960;16096645;16060659;16055439;16050810;15834423;15647279;15616580;15611041;15572685;15489334;15482860;15286281;15273251;15153330;15123636;14980312;14769800;14767476;14752096;14747462;14661947;14657027;14645221;14614455;14581481;14500836;12937166;12917345;12888487;12813456;12601814;12501250;12486002;12477932;12419806;12391158;12374802;12154097;12101239;12082103;12068014;12032084;12015309;11994312;11956210;11937047;11931765;11748222;11741939;11689696;11581372;11568182;11564863;11547919;11509661;11463815;11404076;11304541;11118214;11058129;11046145;10944526;10852958;10811635;10779504;10777601;10777539;10766811;10753971;10747963;10619020;10545121;10373431;10318892;10207070;10025406;10022868;9892017;9891054;9880483;9824164;9744860;9742083;9733796;9722949;9674425;9659901;9445475;9346901;9296499;9267036;8945521;1602151;17168834;16838299;16146763;16046164;16035254;15719065;15183343;16135803;16362936;15171254;17977830;18987336;11163245;9710619;11864601;12660246;11509179;12815053;11486036;15992539;15350211;9223281;15044952;11818576;20889312;21148070;23595990;20589832;20663886;20213728;21062767;20663877;16537920;16678111;17707232;18586263;20530585;16285943;16613856;17141982;17158926;19276081;15509593;15604093;16917507;17643375;19303849;19525977;19589782;19950226;19996091;20363750;20379614;9687573;11830591;12297501;12758070;12878208;16122695;20604809;10567539;10958685;15005629;15009097;15023334;18089809;9809067;9885574;17301242;17475621;17602165;17726049;17964260;20484414;21413932;21447625;11607033;15454570;15987677;15994459;21108945;19470756;18504427;20224553;20364308;20651253;19961954;20870727;20935208;19483727;20107328;19773423;21444723;23001180;23044042;19407811;21079652;22055187;22219331;16322561;21060154;21209460;21987584;22318606;19249677;23095762;16728408;17189186;22709982;10966108;22174411;22384255;22100137;21775285;23441852;22335196;22713239;23643089;17444627;19223581;19526283;19716452;19812265;20227660;21489275 8850 Q92831 ABBA01025087;ABBA01025088;ABBA01025089;ABBA01025090;AC099057;AL832173;AMYH01013013;AMYH01013014;AMYH01013015;BC060823;BC070075;CH471055;CS330046;NM_003884;U57317 AAC50890;AAH60823;AAH70075;CAL00151;EAW64305;EAW64306;NP_003875;Q92831 Hs.533055 1684373;1706638;1707562;1749471;2120873;2151229 RH48918;RH91328;SHGC-111194;SHGC-76766;SHGC-82800;SHGC-84592 CAF;P;P/CAF;PCAF CREBBP-associated factor;OTTHUMP00000161047;histone acetylase PCAF;histone acetyltransferase KAT2B;histone acetyltransferase PCAF;lysine acetyltransferase 2B;p300/CBP-associated factor APPROVED protein-coding ENSG00000114166 8638 06780 602303 REVIEWED 1606280 KANSL2 KAT8 regulatory NSL complex subunit 2 12 12 12 q13.11 47842978 47872021 - 47333261 47362302 - 49046994 49076035 - 6480464 17081983;16344560;15489334;15302935;14702039;14637001;12477932;8889548;16543150;17694080;20018852;21832049;20360068 54934 F8VP38;F8VRX7;F8VUX5;F8VX10;F8VXI8;H0YHH4;H0YHR2;H0YID1;H0YIQ8;Q9H9L4 ABBA01031482;AC079951;AK000443;AK022732;AK094528;AL834467;AMYH01004434;BC009746;BC013900;BG760446;BM672156;CH471111;DA278834;NM_017822 AAH09746;AAH13900;BAA91169;BAB14211;CAD39126;EAW57991;EAW57992;EAW57993;EAW57994;EAW57995;EAW57996;NP_060292;Q9H9L4 Hs.505412 1740265;1777563 D3S1688;RH65757 C12orf41;FLJ12670;FLJ20436;NSL2 KAT8 regulatory NSL complex subunit 2;NSL complex protein NSL2;OTTHUMP00000243656;OTTHUMP00000243657;OTTHUMP00000243659;OTTHUMP00000243660;hypothetical protein LOC54934;non-specific lethal 2 homolog;uncharacterized protein C12orf41 APPROVED protein-coding ENSG00000139620 26024 07907 VALIDATED 1345099 KARS lysyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q23.1 74219131 74239078 - 75661622 75681585 - 1580863;6480464;7240710 10952987;9278442;18272479;17724017;17560997;16702215;16341674;16169070;15489334;15220430;12869526;12819782;12756246;12729910;12477932;11829477;11333884;9878398;9525626;8812440;7584044;1651330;15183344;15078180;15888436;16120388;15142377;16189514;15479637;21252943;21093454;11714285;16055448;18715867;19844255;20056178;8052601;8078941;8188258;8449960;20920668;20699648;20877624;21536907;22863883;23095741;21763493;23159739;18029348;20186120;22586326;18274552;18781797;21139048;21890473;21900206;22079093;19584093;22751010;22235746;22939629;19738201;21963094;21988832;23000965;21145461;17203973;21181198;23455922;23768514;22539966;23208549;18708237;18842718;19458171;19825046;19914238;21058683;21318276;22190034;22276994;22698876;22797925 3735 H3BMR9;H3BPV7;H3BQK5;H3BRC9;H3BSN6;H3BVA8;J3KRL2;Q15046 AA503390;ABBA01017057;AC025287;AF285758;AK126584;AK309168;AK315687;AMYH01007821;BC004132;BC013246;BM781594;CH471114;D31890;D32053;NG_028025;NM_001130089;NM_005548 AAG30114;AAH04132;ABM83227;ABM86426;BAA06688;BAA22084;BAC86604;EAW95619;EAW95620;EAW95621;EAW95622;EAW95623;EAW95624;NP_001123561;NP_005539;Q15046 Hs.3100 1648924;1700656;2124425;2132534;2191023 D16S2968;MARC_13466-13467:1002299828:1;RH103951;SHGC-61037;SHGC-61044 CMTRIB;DFNB89;KARS1;KARS2;KIAA0070;KRS OTTHUMP00000174948;OTTHUMP00000174949;lysRS;lysine tRNA ligase;lysine--tRNA ligase;lysyl-tRNA synthetase APPROVED protein-coding ENSG00000065427 6215 03249 601421;613641 REVIEWED 1312590 KAT6A K(lysine) acetyltransferase 6A 8 8 p11 41906154 42028662 - 41786997 41909505 - 1580863;6480464 17697320;11742995;11965546;8782817;19001415;18818702;18794358;18754862;18528428;17805331;17296583;17081983;16916647;16713569;16613851;16344560;15657427;14702039;12771199;12676584;12477932;11313971;10824998;9558366;8849440;17182677;16096645;20581860;19690564;17083329;20800603;17925393;16387653;16702405;15342556;18469222;23063713;21880731;22318606;19322201;22713874;15331439;21890473;23022987;23347099;23431171 7994 A5PKX7;A5PLL3;C9JJY6;C9K0F9;Q92794 ABBA01021142;ABBA01021143;ABBA01021144;AC090571;AK027361;AK128323;AMYH01018676;AMYH01018677;BC018011;BC142659;BC142959;BP348860;CH471080;DA257528;DA442995;DA758316;NM_001099412;NM_001099413;NM_006766;U47742 AAC50662;AAI42660;AAI42960;AAI72379;EAW63239;EAW63240;NP_001092882;NP_001092883;NP_006757;Q92794 Hs.491577 1674612;1727829;1773440;1856787;2218788;5020635;5021960 D7S3207;G63180;MYST3_3901;Myst3;RH12816;RH16550;WI-15071 MGC167033;MOZ;MYST3;RUNXBP2;ZC2HC6A;ZNF220 MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3;MYST histone acetyltransferase (monocytic leukemia) 3;MYST-3;Monocytic leukemia zinc finger protein;OTTHUMP00000197392;OTTHUMP00000197394;OTTHUMP00000225722;histone acetyltransferase KAT6A;histone acetyltransferase MYST3;runt-related transcription factor binding protein 2;runt-related transcription factor-binding protein 2;zinc finger protein 220 APPROVED protein-coding ENSG00000083168 13013 03244 601408 VALIDATED 732354 KAT5 K(lysine) acetyltransferase 5 The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 q13 65236065 65243651 + 65479473 65487077 + 1580863;2316155;6480464;6484113 19450511 15572661;15383276;16169070;17110330;18485870;16223726;16501607;16835243;17704809;22586264;11591700;14699153;14701804;15016909;15044485;15331662;10966108;8607265;14966270;19308289;19169279;19150978;19048121;18985155;18625847;18499675;18458078;18414493;18397884;18285460;18264029;18263878;18239623;18096664;17996965;17980166;17967892;17851107;17728759;17709392;17636029;17551969;17368826;17189186;17126496;16705183;16698308;16603769;16601686;16455055;16341205;16189514;16141325;16001085;15985650;15829968;15647280;15572685;15502158;15489334;15310756;15196461;15121871;15042092;15017382;12963728;12888553;12801643;12776177;12737628;12551922;12477932;12468530;12464179;12154097;12150997;12036595;12032152;11994312;11927554;11441186;11416127;11275565;11262386;11111051;10720489;10486269;10393559;10364196;10362352;10096020;9388189;8125298;18451177;11509179;11839798;21463657;22398289;20507282;20796290;20542002;15474031;16260778;16387653;17360565;17418098;18029348;19176879;19783983;19800870;19819149;19846935;19895790;19909775;19938016;20100829;20159953;20351180;17406968;17827213;15591049;18218781;18280244;18406329;21157427;21273583;16844118;20383146;16287840;16344560;17308053;17573780;8889548;20224553;20332121;15005629;18003922;18087039;23046361;23708966;21658600;20070254;20946988;22673729;23609452;23677994;23775119;21574959;23297341;22249179;21045206;21781306;21906983;22110127;22159227;21900206;22018239;22081016;21668587;21699783;21704408;22391203;21320693;21936881;22539723;22084066;22100137;22318606;22379092;22467210;22573825;22354990;21963094;21988832;22071692;22939624;23056207;22094252;21832049;22939629;23044042;16469706;18577246;19114310;19716452;21320689;22902274 10524 E9PJI1;E9PMG8;E9PRL6;E9PRM3;E9PRS1;H0YEG3;H0YEP0;Q9BWK7 AB209813;ABBA01024105;AK130717;AK225100;AK226002;AK304664;AK313297;AMYH01003724;AP001266;AY214165;BC000166;BC013211;BC064912;BC093032;BC117167;BC143290;BC143296;BG720537;BI463394;BU737532;CH471076;DA043042;DB003934;DB103287;NG_033057;NM_001206833;NM_006388;NM_182709;NM_182710;U40989;U67734;U74667 AAB02683;AAB18236;AAD00163;AAH00166;AAH64912;AAH93032;AAI17168;AAI43297;AAO21130;ADR83372;BAD93050;BAG36104;BAG65439;EAW74427;EAW74428;EAW74429;EAW74430;EAW74431;EAW74432;NP_001193762;NP_006379;NP_874368;NP_874369;Q92993 Hs.397010 1670455;1680052;1721733;2108159;2150232;2151675;2163941;2177784;5022578 D1S1423;G59731;HSC0AE062;HTATIP_7974;IB3011;RH18259;RH99016;STS-U40989;WI-17347 ESA1;HTATIP;HTATIP1;PLIP;TIP;TIP60;ZC2HC5;cPLA2 60 kDa Tat-interactive protein;HIV-1 Tat interacting protein, 60kDa;HIV-1 Tat interactive protein, 60kDa;K-acetyltransferase 5;OTTHUMP00000233811;OTTHUMP00000233812;OTTHUMP00000233813;OTTHUMP00000233848;Tat interacting protein, 60kDa;cPLA(2)-interacting protein;cPLA2 interacting protein;histone acetyltransferase HTATIP;histone acetyltransferase KAT5;hiv-1 tat interactive protein, 60 kd;lysine acetyltransferase 5 APPROVED protein-coding ENSG00000172977 5275 03245 601409 REVIEWED 1350599 KATNAL2 katanin p60 subunit A-like 2 18 18 18 q21.1 41429772 41479137 + 42780785 42881661 + 44526787 44628614 + 737633;1580863;6480464 12477932 15146197;8889548;17207965;21173776;22939629;22495311;23018867 83473 K7EIJ8;K7EM02;K7EMW1;K7EPQ6;K7EQ00;Q8IYT4 ABBA01018616;AC012254;AC090373;AK309134;AL512748;AMYH01008974;BC034999;CA311572;CH471096;CN303333;NM_031303 AAH34999;ADQ31811;CAC21672;EAW62901;EAW62902;EAW62903;EAW62904;NP_112593;Q8IYT4 Hs.404137 1698984;1699618;1705226;1718819;1775030;1848474 D18S1356;RH103061;RH103411;RH123113;SHGC-57953;SHGC-78100 DKFZp667C165;MGC33211 katanin p60 ATPase-containing subunit A-like 2;p60 katanin-like 2 protein-coding 25387 13754 614697 VALIDATED 1346255 KATNAL1 katanin p60 subunit A-like 1 13 13 13 q12.3 11846314 11951125 - 29674767 29779584 - 30776767 30881624 - 737633;1580863;6480464 12477932 22808956;16189514;15489334;15057823;14702039;14623284;7829101;21139048;16344560;19322201;20519956 84056 A2A3H2;B3KUK7;Q5T558;Q9BW62 ABBA01035702;ABBA01035703;ABBA01035704;ABBA01035705;ABBA01035706;ABBA01035707;AK097423;AK291439;AK315724;AL356750;AMYH01005005;AMYH01005006;AMYH01005007;AW019882;BC000612;BX647147;CH471075;DA085487;DR006891;NM_001014380;NM_032116 AAH00612;ABM83565;ABM86803;BAF84128;BAG38080;BAG53469;EAX08452;EAX08453;NP_001014402;NP_115492;Q9BW62 Hs.243596 1706616;1801448;1802686;1805608;1805956;1807108;1807296;1807776;1808044;1808046;1808460;1808462;1808748;1808826;1809498;1811024;1811394;1817312;1817492;1817680;1818242;1819330;1820620;1820732;1822528;1823190;1823344;1823442;1823532;1824500;1826176;1826270;1826446;1827994;1828466;1829156;1829842;1830138;1830314;1830904;1831650;1831760;1831880;1832172;1832226;1832468;1833040;1833136;1833276;1833918;1834060;1834118;1834222;1834224;1834456;1834940;1835580;1836008;1836416;1837464;1838324;1839538;1839604;1839920;1840550;1841576;1842340;1842476;1843292;1843748;1843832;1844044;1844968;1845212;1846228;1846254;1846342;1846454;1860930;1860932;1860934;1860936;1860938;1860940;1860942;1860944;1860946;1860948;1860950;1860952;1860954;1860956;1860958;1860960;1860962;1860964;1860966;1860968;1860970;1860972;1860974;1860976;1860978;1860980;1860982;1860984;1860986;1860988;1860990;1860992;1860994;1860996;1860998;1861000;1861002;1861004;1861006;1861008;1861010;1861012;1861014;1861016;1861018;1861020;1861022;1861024;1861026;1861028;1861030;1861032;1861034;1861036;1861038;1861040;1861042;1861044;1861046;1861048;1861050;1861052;1861054;1861056;1861058;1861060;1861062;1861064;1861066;1861068;1861070;1861072;1861074;1861076;1861078;1861080;1861082;1861084;1861086;1861088;1861090;1861092;1861094;1861096;1861098;1861100;1861102;1861104;1861106;1861108;1861110;1861112;1861114;1861116;1861118;1861120;1861122;1861124;1861126;1861128;1861130;1861132;1861134;1861136;1861138;1861140;1861142;1861144;1861146;1861148;1861150;1861152;1861154;1861156;1861158;1861160;1861162;1861164;1861166;1861168;1861170;1861172;1861174;1861176;1861178;1861180;1861182;1861184;1861186;1861188;1861190;1861192;1861194;1861196;1861198;1861200;1861202;1861204;1861206;1861208;1861210;1861212;1861214;1861216;1861218;1861220;1861222;1861224;1861226;1861228;1861230;1861232;1861234;1861236;1861238;1861240;1861242;1861244;1861246;1861248;1861250;1861252;1861254;1861256;1861258;1861260;1861262;1861264;1861266;1861268;1861270;1861272;1861274;1861276;1861278;1861280;1861282;1861284;1861286;1861288;1861290;1861292;1861294;1861296;1861298;1861300;1861302;1861304;1861306;1861308;1861310;1861312;1861314;1861316;1861318;1861320;1861322;1861324;1861326;1861328;1861330;1861332;1861334;1861336;1861338;1861340;1861342;1861344;1861346;1861348;1861350;1861352;1861354;1861356;1861358;1861360;1861362;1861364;1861366;1861368;1861370;1861372;1861374;1861376;1861378;1861380;1861382;1861384;1861386;1861388;1861390;1861392;1861394;1861396;1861398;1861400;1861402;1861404;1861406;1861408;1861410;1861412;1861414;1861416;1861418;1861420;1861422;1861424;1861426;1861428;1861430;1861432;1861434;1861436;1861438;1861440;1861442;1861444;1861446;1861448;1861450;1861452;1861454;1861456;1861458;1861460;1861462;1861464;1861466;1861468;1861470;1861472;1861474;1861476;1861478;1861480;1861482;1861484;1861486;1861488;1861490;1861492;1861494;1861496;1861498;1861500;1861502;1861504;1861506;1861508;1861510;1861512;1861514;1861516;1861518;1861520;1861522;1861524;1861526;1861528;1861530;1861532;1861534;1861536;1861538;1861540;1861542;1861544;1861546;1861548;1861550;1861552;1861554;1861556;1861558;1861560;1861562;1861564;1861566;1861568;1861570;1861572;1861574;1861576;1861578;1861580;1861582;1861584;1861586;1861588;1861590;1861592;1861594;1861596;1861598;1861600;1861602;1861604;1861606;1861608;1861610;1861612;1861614;1861616;1861618;1861620;1861622;1861624;1861626;1861628;1861630;1861632;1861634;1861636;1861638;1861640;1861642;1861644;1861646;1861648;1861650;1861652;1861654;1861656;1861658;1861660;1861662;1861664;1861666;1861668;1861670;1861672;1861674;1861676;1861678;1861680;1861682;1861684;1861686;1861688;1861690;1861692;1861694;1861696;1861698;1861700;1861702;1861704;1861706;1861708;1861710;1861712;1861714;1861716;1861718;1861720;1861722;1861724;1861726;1861728;1861730;1861732;1861734;1861736;1861738;1861740;2150377;2158200;2163333;2197302;2197304;2197306;2197308;2197310;2197312;2197314;2197316;2197318;2197320;2197322;2197324;2197326;2197328;2197330;2197332;2197334;2197336;2197338;2197340;2197342;2197344;2197346;2197348;2197350;2197352;2197354;2197356;2197358;2197360;2197362;2197364;2197366;2197368;2197370;2197372;2197374;2197376;2197378;2197380;2197382;2197384;2197386;2197388;2197390;2197392;2197394;2197396;2197398;2197400;2197402;2197404;2197406;2197408;2197410;2197412;2197414;5015959;5122013 D10S2448;ECD01598;ECD02230;ECD03754;ECD03931;ECD04519;ECD04618;ECD04862;ECD05000;ECD05001;ECD05212;ECD05213;ECD05357;ECD05396;ECD05741;ECD06510;ECD06695;ECD09706;ECD09796;ECD09892;ECD10178;ECD10732;ECD11385;ECD11441;ECD12352;ECD12684;ECD12761;ECD12812;ECD12857;ECD13348;ECD14198;ECD14247;ECD14337;ECD15120;ECD15360;ECD15705;ECD16054;ECD16202;ECD16291;ECD16588;ECD16962;ECD17017;ECD17078;ECD17224;ECD17251;ECD17373;ECD17661;ECD17710;ECD17781;ECD18105;ECD18178;ECD18207;ECD18259;ECD18260;ECD18376;ECD18621;ECD18946;ECD19165;ECD19370;ECD19899;ECD20336;ECD20951;ECD20985;ECD21143;ECD21462;ECD21985;ECD22373;ECD22444;ECD22854;ECD23085;ECD23127;ECD23235;ECD23700;ECD23823;ECD24334;ECD24347;ECD24391;ECD24447;REN1121;REN1122;REN1123;REN1124;REN1125;REN1126;REN1127;REN1128;REN1129;REN1130;REN1131;REN1132;REN1133;REN1134;REN1135;REN1136;REN1137;REN1138;REN1139;REN1140;REN1141;REN1142;REN1143;REN1144;REN1145;REN1146;REN1147;REN1148;REN1149;REN1150;REN1151;REN1152;REN1153;REN1154;REN1155;REN1156;REN1157;REN1158;REN1159;REN1160;REN1161;REN1162;REN1163;REN1164;REN1165;REN1166;REN1167;REN1168;REN1169;REN1170;REN1171;REN1172;REN1173;REN1174;REN1175;REN1176;REN1177;REN1178;REN1179;REN1180;REN1181;REN1182;REN1183;REN1184;REN1185;REN1186;REN1187;REN1188;REN1189;REN1190;REN1191;REN1192;REN1193;REN1194;REN1195;REN1196;REN1197;REN1198;REN1199;REN1200;REN1201;REN1202;REN1203;REN1204;REN1205;REN1206;REN1207;REN1208;REN1209;REN1210;REN1211;REN1212;REN1213;REN1214;REN1215;REN1216;REN1217;REN1218;REN1219;REN1220;REN1221;REN1222;REN1223;REN1224;REN1225;REN1226;REN1227;REN1228;REN1229;REN1230;REN1231;REN1232;REN1233;REN1234;REN1235;REN1236;REN1237;REN1238;REN1239;REN1240;REN1241;REN1242;REN1243;REN1244;REN1245;REN1246;REN1247;REN1248;REN1249;REN1250;REN1251;REN1252;REN1253;REN1254;REN1255;REN1256;REN1257;REN1258;REN1259;REN1260;REN1261;REN1262;REN1263;REN1264;REN1265;REN1266;REN1267;REN1268;REN1269;REN1270;REN1271;REN1272;REN1273;REN1274;REN1275;REN1276;REN1277;REN1278;REN1279;REN1280;REN1281;REN1282;REN1283;REN1284;REN1285;REN1286;REN1287;REN1288;REN1289;REN1290;REN1291;REN1292;REN1293;REN1294;REN1295;REN1296;REN1297;REN1298;REN1299;REN1300;REN1301;REN1302;REN1303;REN1304;REN1305;REN1306;REN1307;REN1308;REN1309;REN1310;REN1311;REN1312;REN1313;REN1314;REN1315;REN1316;REN1317;REN1318;REN1319;REN1320;REN1321;REN1322;REN1323;REN1324;REN1325;REN1326;REN1327;REN1328;REN1329;REN1330;REN1331;REN1332;REN1333;REN1334;REN1335;REN1336;REN1337;REN1338;REN1339;REN1340;REN1341;REN1342;REN1343;REN1344;REN1345;REN1346;REN1347;REN1348;REN1349;REN1350;REN1351;REN1352;REN1353;REN1354;REN1355;REN1356;REN1357;REN1358;REN1359;REN1360;REN1361;REN1362;REN1363;REN1364;REN1365;REN1366;REN1367;REN1368;REN1369;REN1370;REN1371;REN1372;REN1373;REN1374;REN1375;REN1376;REN1377;REN1378;REN1379;REN1380;REN1381;REN1382;REN1383;REN1384;REN1385;REN1386;REN1387;REN1388;REN1389;REN1390;REN1391;REN1392;REN1393;REN1394;REN1395;REN1396;REN1397;REN1398;REN1399;REN1400;REN1401;REN1402;REN1403;REN1404;REN1405;REN1406;REN1407;REN1408;REN1409;REN1410;REN1411;REN1412;REN1413;REN1414;REN1415;REN1416;REN1417;REN1418;REN1419;REN1420;REN1421;REN1422;REN1423;REN1424;REN1425;REN1426;REN1427;REN1429;REN1430;REN1431;REN1432;REN1433;REN1434;REN1435;REN1436;REN1437;REN1438;REN1439;REN1440;REN1441;REN1442;REN1443;REN1444;REN1445;REN1446;REN1447;REN1448;REN1449;REN1450;REN1451;REN1452;REN1453;REN1454;REN1455;REN1456;REN1457;REN1458;REN1459;REN1460;REN1461;REN1462;REN1463;REN1464;REN1465;REN1466;REN1467;REN1468;REN1469;REN1470;REN1471;REN1472;REN1473;REN1474;REN1475;REN1476;REN1477;REN1478;REN1479;REN1480;REN1481;REN1482;REN1483;REN1484;REN1485;REN1486;REN1487;REN1488;REN1489;REN1490;REN1491;REN1492;REN1493;REN1494;REN1495;REN1496;REN1497;REN1498;REN1499;REN1500;REN1501;REN1502;REN1503;REN1504;REN1505;REN1506;REN1507;REN1508;REN1509;REN1510;REN1511;REN1512;REN1513;REN1514;REN1515;REN1516;REN1517;REN1518;REN1519;REN1520;REN1521;REN1522;REN1523;REN1524;REN1525;REN1526;REN1527;REN1528;RH78777;SHGC-82709;STS-AA029372;WI-11752;stSG616706;stSG616707;stSG616708;stSG616710;stSG616711;stSG616712;stSG616713;stSG616714;stSG616715;stSG616716;stSG616717;stSG616718;stSG616719;stSG616720;stSG616721;stSG616722;stSG616723;stSG616724;stSG616725;stSG616726;stSG616727;stSG616728;stSG616729;stSG616730;stSG616731;stSG616732;stSG616733;stSG616734;stSG616735;stSG616736;stSG616737;stSG616738;stSG616739;stSG616740;stSG616741;stSG616742;stSG616743;stSG616744;stSG616745;stSG616746;stSG616747;stSG616748;stSG616749;stSG616750;stSG616751;stSG616752;stSG616753;stSG616754;stSG616755;stSG616756;stSG616757;stSG616758;stSG616759;stSG616760;stSG616761;stSG616762;stSG616763 MGC2599 OTTHUMP00000018194;OTTHUMP00000061637;katanin p60 ATPase-containing subunit A-like 1;p60 katanin-like 1 protein-coding ENSG00000102781 28361 13753 614764 VALIDATED 1353532 KAT6B K(lysine) acetyltransferase 6B The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] 10 10 10 q22.2 69874402 70080888 + 76256385 76462645 + 76586171 76792380 + 6480464 11965546;10497217;18794358;17460191;17081983;15489334;15302935;15271374;12477932;12168954;11157802;9205841;17182677;16096645;15561718;16385451;16387653;16713569;18029348;20379614;17980037;23063713;21804188;16344560;21880731;22077973;22265014;22265017;21890473;22318606;22747683;22505724;22715153 23522 B2RWN8;Q8WYB5 AA416904;AB002381;ABBA01020267;ABBA01020268;ABBA01020269;ABBA01020270;ABBA01020271;ABBA01020272;ABBA01020273;ABBA01020274;ABBA01020275;AC018511;AC063962;AF113514;AF119230;AF119231;AF217500;AK074816;AL832065;AMYH01002836;AMYH01002837;BC014143;BC021128;BC048199;BC150270;BC150618;CH471083;DA488537;NG_032048;NM_001256468;NM_001256469;NM_012330 AAF00095;AAF00099;AAF00100;AAH14143;AAH21128;AAH48199;AAI50271;AAI50619;AAL56647;BAA20837;CAH10408;EAW54557;EAW54558;EAW54559;NP_001243397;NP_001243398;NP_036462;Q8WYB5 Hs.35758;Hs.599543;Hs.740873 1653309;1656226;1685940;2109543;2160278;5018925;5108775 AW534476;D2S2965;D3S1674;MYST4_3804;RH48046;RH92572;STS-N36096 DKFZp313G1618;FLJ90335;GTPTS;KIAA0383;MORF;MOZ2;MYST4;ZC2HC6B;qkf;querkopf MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4;MOZ-related factor;MYST histone acetyltransferase (monocytic leukemia) 4;MYST-4;OTTHUMP00000019866;OTTHUMP00000019867;OTTHUMP00000019868;OTTHUMP00000019869;OTTHUMP00000019870;histone acetyltransferase KAT6B;histone acetyltransferase MORF;histone acetyltransferase MOZ2;histone acetyltransferase MYST4;monocytic leukemia zinc finger protein-related factor APPROVED protein-coding ENSG00000156650 17582 07065 603736;605880;606170 REVIEWED 1323009 KAT8 K(lysine) acetyltransferase 8 This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 16 16 p11.2 31036488 31050206 + 31128985 31142714 + 2316155;6480464;6484113 19450511 11742995;11965546;18058815;17967868;17694080;16227571;16024812;15960975;15923642;15498874;15489334;15342556;14702039;12477932;12397079;10786633;8125298;17182677;16096645;17189187;19854137;19578370;20018852;20479123;19913121;20628086;21321083;20224553;22918831;22020126;20360068;21502975;21691301;22586264;21217699;22152480;19766566;22318606;22939629 84148 H3BMX5;H3BSY8;Q9HAC5 AA682878;ABBA01042079;AC009088;AC135050;AF217501;AF260665;AF289578;AK021872;AK024102;AK225660;AK291106;AL050395;AMYH01007504;BC037773;BP342476;CD364543;CH471192;NM_032188;NM_182958 AAF72665;AAH37773;AAL55762;AAL56648;BAB13924;BAB14827;BAF83795;CAH56416;EAW52157;EAW52158;NP_115564;NP_892003;Q9H7Z6 Hs.533803 1668242;1685375;1687766;1691078;5124347 D16S3336;RH65237;RH68632;RH69053;RH98758 FLJ14040;MOF;MYST1;ZC2HC8;hMOF K(lysine) acetyltransferase 8;MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1;MYST histone acetyltransferase 1;MYST-1;OTTHUMP00000163246;OTTHUMP00000236628;histone acetyltransferase KAT8;histone acetyltransferase MYST1;lysine acetyltransferase 8;ortholog of Drosophila males absent on the first (MOF);probable histone acetyltransferase MYST1 APPROVED protein-coding ENSG00000103510 17933 11381 609912 VALIDATED 737003 KAT7 K(lysine) acetyltransferase 7 17 17 q21.32 45221070 45261457 + 47865981 47906458 + 1580863;6480464 10930412;15383276;16169070;10438470;19393168;19372580;18832067;18684714;18250300;17954561;17081983;16964243;16645042;16428461;16387653;16189514;15963510;15489334;14702039;12477932;12034878;11978794;11931763;11278932;17182677;16096645;19913121;20628086;19187766;20053357;20129055;21040551;16880509;19454010;20980834;21832049;23188630;21856198;22318606;22334692;21900206;21139048;21890473;22144582;21988832;23000965;23319590 11143 D6RFZ5;E7EUP3;G3V125;O95251 ABBA01041216;AC015795;AC027801;AF074606;AF140360;AF217502;AK023890;AK122932;AK293976;AK294014;AK294052;AK294367;AK294602;AK294836;AK295914;AK297212;AMYH01008470;BC015485;BC032640;CH471109;DC306552;NM_001199155;NM_001199156;NM_001199157;NM_001199158;NM_007067 AAC99368;AAD42348;AAH32640;AAL56649;ABM81809;ABM84963;BAG51236;BAG53804;BAG57346;BAG57375;BAG57401;BAG57629;BAG57789;BAG57945;BAG58702;BAH12525;EAW94658;EAW94659;EAW94660;EAW94661;NP_001186084;NP_001186085;NP_001186086;NP_001186087;NP_008998;O95251 Hs.21907 1702740;1778716;2110591;2150979;2167596 DXS7479;GDB:451733;MYST2_7995;RH11199;WI-14886 HBO1;HBOA;MYST2;ZC2HC7 MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2;MYST histone acetyltransferase 2;MYST-2;OTTHUMP00000220713;OTTHUMP00000220714;OTTHUMP00000220715;OTTHUMP00000220716;OTTHUMP00000220717;OTTHUMP00000220718;histone acetyltransferase KAT7;histone acetyltransferase MYST2;histone acetyltransferase binding to ORC1;lysine acetyltransferase 7 APPROVED protein-coding ENSG00000136504 17016 07135 609880 VALIDATED 1604839 KBTBD11 kelch repeat and BTB (POZ) domain containing 11 8 8 8 p23.3 1864864 1897747 + 1909451 1942509 + 1922044 1955109 + 6480464 15592455;14508709;9872452;9314494;23251661;22505724 9920 O94819 AB018254;ABBA01016750;ABBA01016751;AC019257;AF009203;AMYH01018281;AMYH01018282;AY762229;CH471181;NM_014867 AAI69331;AAI69332;AAW83120;BAA34431;EAW51487;NP_055682;O94819 Hs.5333 1670519;1854224;2119579;2131714;2161572 A003B24;A004A42;AF009209;BCD1479;D8S1382E KIAA0711;KLHDC7C OTTHUMP00000224482;chronic myelogenous leukemia-associated protein;kelch domain-containing protein 7B;kelch repeat and BTB domain-containing protein 11 protein-coding ENSG00000176595 29104 17195 VALIDATED 1353857 KATNA1 katanin p60 (ATPase containing) subunit A 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011] 6 6 6 q25.1 150651214 150694812 - 149957865 150001421 - 149916009 149969940 - 1580863;6480464 10751153;18490357;15489334;14574404;12477932;11870226;10445032;10209026;9658175;9568719;8907702;8221885;20339000;20508983;16344560;22939629;18029348;19261606;19531213;19287380;21681775;21139048;21890473;21906983;22325007;23000965;23272056;16203747;17974975 11104 A8K7S5;B7ZBC8;B7ZBC9;O75449 ABBA01025677;AF056022;AK292090;AL078581;AMYH01016737;BC050428;BX276089;CA426364;CH471051;DB031858;NM_001204076;NM_007044 AAC25114;AAH50428;BAF84779;EAW47793;EAW47794;EAW47795;NP_001191005;NP_008975;O75449 Hs.450175 1662342;1662597;1774986;2140036;5017877 KATNA1;RH46515;SHGC-32611;SHGC-59927;STS-T47614 OTTHUMP00000017392;OTTHUMP00000042860;katanin p60 (ATPase-containing) subunit A 1;katanin p60 ATPase-containing subunit A1;katanin p60 subunit A1;p60 katanin APPROVED protein-coding ENSG00000186625 6216 05986 606696 REVIEWED 1314664 KATNBL1 katanin p80 subunit B-like 1 15 15 15 q14 11235435 11304861 - 32220167 32289515 - 34432875 34502297 - 737633;6480464 12477932 16381901;15489336;15489334;14702039;11256614;11230166;11076863;16169070;21372175;16341674;21900206;19322201 79768 H0YKW3;H0YL62;H0YLP4;H0YLX9;H0YMR8;H0YNF7;H0YNG2;H0YNH1;H0YNW3;Q9H079 ABBA01038543;AC079203;AK026210;AK293021;AK293695;AK297904;AK311338;AL136908;AL833631;AMYH01006510;AMYH01006511;BC026234;BC037234;BC047748;BC111000;BM831547;BX389537;CH471125;NM_024713 AAH26234;AAI11001;BAB15394;BAF85710;BAG57131;BAG60223;CAB66842;CAL38412;EAW92288;EAW92289;EAW92290;NP_078989;Q9H079 Hs.633566 1644548;1655157;1662763;5015881 G31549;GDB:335751;RH45749;WI-11840 C15orf29;FLJ22557;MGC117356 KATNB1-like protein 1;OTTHUMP00000159730;hypothetical protein LOC79768;uncharacterized protein C15orf29 APPROVED protein-coding ENSG00000134152 26199 07995 VALIDATED 3130125 KBTBD13 kelch repeat and BTB (POZ) domain containing 13 The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010] 15 15 15 q22.31 42247313 42250435 + 63156207 63157583 + 65369154 65372276 + 6480464;7240710 11181995;16207353;16344560;21109227;12805120;22542517 390594 C9JR72 ABBA01038861;AC013553;AMYH01006715;CH471082;DB331058;NG_021411;NM_001101362 C9JR72;EAW77711;NP_001094832 Hs.586890 1336415;1340545 D15S125;D15S155 HCG1645727;NEM6 kelch repeat and BTB domain-containing protein 13;nemaline myopathy type 6 APPROVED protein-coding ENSG00000234438 37227 609273;613727 REVIEWED 1321754 KAZALD1 Kazal-type serine peptidase inhibitor domain 1 This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. It contains an N-terminal insulin growth factor-binding domain, a central Kazal-type serine protease inhibitor and follistatin-like domain, and a C-terminal immunoglobulin-like domain. Studies of the mouse ortholog suggest that this gene product may have a function in bone development and bone regeneration. [provided by RefSeq, Feb 2009] 10 10 10 q24.31 96558719 96563071 + 102811588 102815339 + 102820999 102825351 + 737633;1580863;6480464 12477932 16344560;15555553;15489334;15340161;15261838;15164054;14702039;12975309;8125298;16385451;22836805 81621 Q96I82 ABBA01063207;AF333487;AK172862;AK172864;AK225949;AL133215;AMYH01003003;AY014271;AY359087;BC007758;CH471066;DA422973;NM_030929 AAG50291;AAG50354;AAH07758;AAQ89445;ABM83683;ABM86979;BAD18818;EAW49782;EAW49783;EAW49784;EAW49785;NP_112191;Q96I82 Hs.534859;Hs.632079 BONO1;FKSG28;FKSG40;FLJ24094;IGFBP-rP10 IGFBP-related protein 10;Kazal-type serine protease inhibitor domain 1;OTTHUMP00000020298;bone- and odontoblast-expressed gene 1;kazal-type serine protease inhibitor domain-containing protein 1;novel kazal-type serine protease inhibitor domain and immunoglobulin domain containing protein APPROVED protein-coding 25460 13755 609208 REVIEWED 1322615 KATNB1 katanin p80 (WD repeat containing) subunit B 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008] 16 16 16 q21 42266969 42288421 + 56327161 56348663 + 57769660 57791162 + 1580863;6480464 10751153;18490357;17081983;16203747;15489334;15215300;12477932;10209026;9658175;9568719;8907702;8221885;6646120;15761153;19261606;20508983;22939629;18029348;21890473;19531213 10300 H3BPD8;H3BPK1;H3BT67;H3BTU7;H3BTV8;Q9BVA0 AB209250;ABBA01025282;AC018552;AC092118;AF052432;AMYH01007704;BC001353;BT007022;BU501165;CA306372;CH471092;CR456762;NM_005886 AAC09328;AAH01353;AAP35668;ABM81693;BAD92487;CAG33043;EAW82950;EAW82951;EAW82952;NP_005877;Q9BVA0 Hs.275675;Hs.732486 1681813;1706320 RH91922;SHGC-80725 KAT OTTHUMP00000164672;katanin (80 kDa);katanin p80 (WD40-containing) subunit B 1;katanin p80 WD40 repeat-containing subunit B1;katanin p80 WD40-containing subunit B1;katanin p80 subunit B1;p80 katanin APPROVED protein-coding ENSG00000140854 6217 04081 602703 REVIEWED 1603549 KBTBD12 kelch repeat and BTB (POZ) domain containing 12 3 3 3 q21.3 126071864 126136471 + 129124592 129189204 + 127641902 127706514 + 6480464 16381901;15489336;12477932;11076863;20379614 166348 B5MCZ4;Q3ZCT8 ABBA01020886;AC011311;AK128176;AK307108;AMYH01013459;BC041365;BX537865;CH471052;NM_207335 AAH41365;BAC87309;CAD97868;CAL38186;CAL38334;EAW79328;NP_997218;Q3ZCT8 Hs.132087 5015619;5037552 D11S3114;D8S2279 DKFZp779E2271;FLJ46299;KLHDC6 OTTHUMP00000197687;OTTHUMP00000197688;OTTHUMP00000197689;kelch domain containing 6;kelch domain-containing protein 6;kelch repeat and BTB domain-containing protein 12 APPROVED protein-coding ENSG00000187715 25731 17001 VALIDATED 1346287 KBTBD6 kelch repeat and BTB (POZ) domain containing 6 13 13 13 q14.11 22759139 22764364 - 40599709 40604936 - 41701709 41706936 - 737633;6480464 12477932 15489334;14702039;21145461;20562859;19615732;18247557;21906983;21963094;19295130;22797925 89890 F5GZN7;Q86V97 ABBA01021277;AK023475;AK056633;AK095195;AK096608;AK299627;AL354696;AL359577;AL833839;AMYH01005061;BC000560;BC051349;BU928896;CD109431;CD557535;CR749688;NM_152903 AAH00560;AAH51349;ACE87007;ACE87695;BAB71238;BAC04826;BAG61555;CAD38699;NP_690867;Q86V97 Hs.534040 1721339;1733288;1856408;2108799;2122059;2137024;5020740;5037552;5092872 A009B24;D13S642;D8S2279;G32384;G59669;KBTBD6_8119;L17809;SHGC-31411;WIAF-2138 DKFZp547E1912;DKFZp547M073;FLJ58260 OTTHUMP00000018312;kelch repeat and BTB domain-containing protein 6 protein-coding ENSG00000165572 25340 13758 VALIDATED 1604041 KAZN kazrin, periplakin interacting protein This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011] 1 1 1 p36.21 13408144 13927446 + 14797800 15317131 + 14925213 15444544 + 6480464 18840647;18519826;15337775;14702039;16713569;16344560;12477932;10470851;9110174;8619474;19727525;20379614;19843585;18029348;22118674;19322201;22513779;23144326 23254 B0QYQ6;Q8N409 AB015329;ABBA01004718;ABBA01004719;ABBA01004720;ABBA01004721;ABBA01004722;ABBA01004723;AF052120;AK057155;AK125388;AK293806;AL031293;AL031732;AL034395;AL035405;AL391215;AL445263;AMYH01000265;AMYH01000266;AMYH01000267;AY505119;AY505120;AY505121;AY505122;BC035501;BC101637;BC113621;BC143641;BI916330;CH471167;DA317442;DN831635;DR003677;NG_029844;NM_001017999;NM_001018000;NM_001018001;NM_015209;NM_201628 AAH35501;AAI01638;AAI13622;AAI43642;AAS86434;AAS86435;AAS86436;AAS86437;BAA88115;BAG57213;EAW51704;NP_001017999;NP_001018000;NP_001018001;NP_056024;NP_963922;Q674X7 Hs.368823 1336132;1339107;1340667;1341167;1645270;1650669;1675666;1686372;1706550;1732974;1732984;1733066;1733114;1735366;1757717;1759507;1789044;1852816;1961526;2119192;2131109;2133621;2141040;2141934;2153353;2175751;5019651;7186331 A006G25;AL009815;AL010010;AL010125;D1S1176;D1S1356;D1S1362;D1S1411;D1S1438;D1S1850E;D1S2672;D1S2728;D1S507;G32345;G65657;REN51636;RH26678;RH64663;RH67949;RH93212;SHGC-146354;SHGC-152962;SHGC-30459;SHGC-30767;SHGC-74252;SHGC-74254;SHGC-81250 DKFZp686D08115;FLJ10199;FLJ32593;FLJ43398;FLJ43806;KAZ;KIAA1026;MGC126686;MGC142181;RP1-21O18.1 OTTHUMP00000002026;OTTHUMP00000002028;OTTHUMP00000221581;OTTHUMP00000221582;kazrin APPROVED protein-coding ENSG00000189337 29173 11122 REVIEWED 1321151 KBTBD2 kelch repeat and BTB (POZ) domain containing 2 7 7 7 p14.3 32889471 32913155 - 32874309 32897897 - 32907778 32931468 - 1580863;6480464 15489334;12477932;10819331;10810093;21145461;18775313;21906983;22505724 25948 C9JI11;C9JUE5;C9JZ29;Q8IY47 AACC02000103;AB040922;ABBA01056853;ABBA01056854;AC018648;AF004292;AF151831;AF161402;AK024557;AK292802;AL117562;AMYH01017160;BC014633;BC032367;BC037887;BC047107;CH471073;NM_015483 AAD34068;AAF28962;AAH37887;AAH47107;ADZ15597;BAA96013;BAF85491;CAB55994;EAL24459;EAW94000;EAW94001;EAW94002;NP_056298;Q8IY47 Hs.372541 1689432;1797098;1853481;2124965;2159183 DKFZP566C134;RH46406;RH92901;STS-N74357;WI-11592 BKLHD1 BTB and kelch domain containing 1;BTB and kelch domain-containing protein 1;OTTHUMP00000202853;kelch repeat and BTB domain-containing protein 2 protein-coding ENSG00000170852 21751 13756 VALIDATED 1322060 KBTBD3 kelch repeat and BTB (POZ) domain containing 3 11 11 11 q22.3 103086081 103112731 - 105427035 105453396 - 105921825 105948465 - 6480464 15489334;14702039;12477932;20353815;17342744;21906983 143879 A8K1K0;E9PKJ3;G3V161;Q8NAB2 ABBA01039900;AK055247;AK092993;AK124540;AK289915;AMYH01004007;AP001001;BC047311;BC062667;BC107691;BC117466;BX640672;BX647830;CD104687;CH471065;NM_152433;NM_198439 AAI07692;AAI17467;ACE86677;ACE87362;ADR83076;BAC04012;BAF82604;CAE45804;EAW67072;EAW67073;EAW67074;EAW67075;EAW67076;NP_689646;NP_940841;Q8NAB2 Hs.101949 1714189;2147284 RH119705;RH47550 BKLHD3;FLJ30685 BTB and kelch domain containing 3;BTB and kelch domain-containing protein 3;OTTHUMP00000232339;OTTHUMP00000232340;kelch repeat and BTB domain-containing protein 3 protein-coding ENSG00000182359 22934 10005 VALIDATED 1312909 KBTBD7 kelch repeat and BTB (POZ) domain containing 7 13 13 13 q14.11 22823146 22826137 - 40663711 40666702 - 41765711 41768702 - 737633;6480464 12477932 15383276;21145461;16381901;16189514;16169070;15489336;15489334;14702039;11230166;11076863;20562859;20132730;18775313;21900206;21139048;21890473;21906983;22505724;21963094;21988832;22939624 84078 B4DS80;Q8WVZ9 ABBA01021275;AK091344;AK299614;AK315589;AL136782;AL354696;AMYH01005061;BC022033;CH471075;CR533558;FJ150424;NM_032138 AAH22033;ABM81764;ABM84920;ACH92650;BAC03641;BAG37961;BAG61542;CAB66716;CAG38589;CAL37913;CAL38452;EAX08647;NP_115514;Q8WVZ9 Hs.63841 1733288;1770265;2142218;2148144;2148146;2218782 A004S08;D13S642;KBTBD7_3688;RH47170;SHGC-143;SHGC-35896 DKFZp434E2318 OTTHUMP00000018313;kelch repeat and BTB domain-containing protein 7 protein-coding 25266 13759 PROVISIONAL 1321017 KBTBD4 kelch repeat and BTB (POZ) domain containing 4 11 11 11 p11.2 47736480 47743298 - 47550326 47557101 - 47593749 47600567 - 6480464 16344560;15489334;14702039;12477932;11042152;21145461;16169070;21890473;21906983;21963094 55709 E9PJ66;E9PJY1;E9PL18;E9PM58;E9PQ38;E9PSA4;Q9NVX7 ABBA01060699;ABBA01060700;AC104942;AF151086;AI282006;AK001312;AK001749;AK091607;AK222550;AK222985;AK225062;AL713735;AMYH01003544;BC002736;CH471064;CR457270;DA016320;DA170281;DA559313;NM_016506;NM_018095;NR_024222 AAF36172;AAH02736;ADZ15413;BAA91616;BAA91880;BAD96270;BAG52391;CAD28521;CAG33551;EAW67898;EAW67899;EAW67900;EAW67901;EAW67902;NP_057590;NP_060565;Q9NVX7 Hs.718483 1336012;1712915;1779268;2217508 D11S4109;KBTBD4_3651;RH121093;SHGC-153212 BKLHD4;FLJ10450;HSPC252 BTB and kelch domain containing 4;BTB and kelch domain-containing protein 4;OTTHUMP00000234356;OTTHUMP00000234357;OTTHUMP00000234358;kelch repeat and BTB domain-containing protein 4 protein-coding ENSG00000123444 23761 13757 VALIDATED 731771 KCNA4 potassium voltage-gated channel, shaker-related subfamily, member 4 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011] 11 11 p14 29988341 29995064 - 30031288 30038577 - 1580863;6480464 9786987;2001794;18640987;17959711;17156368;16637659;16382104;16308273;16169070;15955806;15136567;12860415;12435606;22087225;22889411;12065763;11997254;11744724;11723117;11389904;11352924;10428758;10428084;9581762;9024696;8938729;8601796;8449523;7905852;7477295;2263489;1986382;1487251;1362562;11278603;19453640;19912772;19961828;16344560;21307345;21945024;10896669;11149959;19968958;22560931 3739 P22459 ABBA01060941;AC124657;AK311228;AMYH01003468;BE467209;DA328650;L02751;M55514;M60450;NM_002233 AAA36140;AAA60034;AAA61275;AAI66685;NP_002224;P22459 Hs.592002 1793206;1796160;2143736;2149871 D11S4337;KCNA4;KCNA4_359;PMC20269P1 HBK4;HK1;HPCN2;HUKII;KCNA4L;KCNA8;KV1.4;PCN2 OTTHUMP00000231998;cardiac potassium channel;fetal skeletal muscle potassium channel;potassium channel 2;potassium voltage-gated channel subfamily A member 4;potassium voltage-gated channel, shaker-related subfamily, member 4-like;rapidly inactivating potassium channel;shaker-related potassium channel Kv1.4;type A potassium channel;voltage-gated K(+) channel HuKII;voltage-gated potassium channel HBK4;voltage-gated potassium channel HK1;voltage-gated potassium channel subunit Kv1.4 APPROVED protein-coding ENSG00000182255 6222 01444 176266 REVIEWED 1346938 KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] 12 12 p13.32 4889334 4897683 + 5019073 5027422 + 1580863;6480464;7240710 8938729;8871592;8821794;8541859;7477295;8845167;7842011;19307729;19202350;18926884;18474843;17912752;17136396;16382104;16344560;15837928;15532032;15486093;15351427;15136567;12944270;12907802;12893943;12799903;12477932;12435606;11960817;11773313;11097830;11026449;11013453;10624965;10355668;9600245;2128063;1349297;10428084;14592966;21827920;19913121;20628086;20660867;21483673;19205071;19903818;19912772;20301785;21106501;20823417;21307345;21847110;22609616;22158511;19968958 3736 Q09470 ABBA01048761;AC006063;AMYH01004197;BC101733;BC112180;CH471116;DA236475;L02750;NG_011815;NM_000217 AAA36139;AAI01734;AAI12181;EAW88833;NP_000208;Q09470 Hs.416139 1656627;1729035;1744191;1744193;1744195;1793288;1793290;1796156;2113996;2149157;5492401;5493285 AB063024;GDB:435448;GDB:435453;GDB:435459;KCNA1_867;PMC20739P2;PMC20739P3;RH11273;RH78540;UniSTS:143652;UniSTS:480933;UniSTS:485592 AEMK;EA1;HBK1;HUK1;KV1.1;MBK1;MGC126782;MGC138385;MK1;RBK1 potassium voltage-gated channel subfamily A member 1;voltage-gated K(+) channel HuKI;voltage-gated potassium channel HBK1;voltage-gated potassium channel subunit Kv1.1 APPROVED protein-coding ENSG00000111262 6218 08885 160120;176260 REVIEWED 1312242 KCNA10 potassium voltage-gated channel, shaker-related subfamily, member 10 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 1 p13.1 109307021 109308979 - 110861362 110863320 - 111059839 111061797 - 1580863;6480464 9177773;16382104;12477932;12444201;12060596;10836990;7789190;19913121;20628086 3744 Q16322;Q7KYZ7 ABBA01068393;AL358215;AMYH01000945;BC074990;CA309199;CH471122;NM_005549;S77547;U96110 AAB34663;AAC51333;AAH74990;EAW56454;NP_005540;Q16322 Hs.248140;Hs.622910 1335479;1759563;1796154;5492597;5492717 D1S2708;KCNA10_865;SHGC-151225;UniSTS:481755;UniSTS:482118 Kcn1;Kv1.8 OTTHUMP00000024387;cyclic GMP gated potassium channel;potassium voltage-gated channel subfamily A member 10;voltage-gated potassium channel subunit Kv1.8 APPROVED protein-coding ENSG00000143105 6219 03882 602420 REVIEWED 1315004 KCMF1 potassium channel modulatory factor 1 2 2 2 p11.2 85082587 85114172 + 85051742 85140106 + 85198231 85286595 + 1580863;6480464 16314831;15581609;14702039;12810064;12477932;9110174;8619474;23383273;21987572;21139048;21906983;22863883;22505724;22797925;22952844 56888 C9J3I2;C9JSW5;Q9P0J7 AB083199;ABBA01075734;AC022210;AC078974;AF131740;AF155652;AK023403;AK311099;AK314761;AL122115;AMYH01010494;AW466865;BC000178;BU844982;CH471053;CT004343;NM_020122 AAF67009;AAH00178;AAX88897;AAY24192;ABM85005;BAB14563;BAC43745;BAG37299;CAB59274;EAW99544;EAW99545;EAW99546;NP_064507;Q9P0J7 Hs.654968 1676964;1700066;1739019;2166963;2217510;5016478;5020881;5022578;5024761;5037552 D1S1423;D2S1877;D8S2279;GDB:434012;KCMF1_3657;L17709;RH103646;RH11910;RH36905;RH93342 DEBT91;DKFZp434L1021;FIGC;PCMF;ZZZ1 E3 ubiquitin-protein ligase KCMF1;FGF-induced in gastric cancer;FGF-induced ubiquitin-protein ligase in gastric cancers;OTTHUMP00000202861;ZZ-type zinc finger-containing protein 1;differentially expressed in branching tubulogenesis 91;zinc finger, ZZ domain containing 1 protein-coding 20589 13761 614719 VALIDATED 1606999 KBTBD8 kelch repeat and BTB (POZ) domain containing 8 3 3 3 p14 66994219 67007126 + 67132093 67144324 + 67048727 67061634 + 6480464 16344560;15489334;14702039;12477932;11347906;21145461;22797727;19893584;21139048;22505724 84541 B4DTW6;C9J331;C9JAA6;Q8NFY9 AB058745;ABBA01030870;AC020655;AF385438;AK096640;AK300397;AMYH01013257;BC117487;CH471055;DA246470;DB065239;NM_032505 AAI17488;AAM43839;ADR83380;BAB47471;BAG62128;EAW65454;NP_115894;Q8NFY9 Hs.116665 1796902;2112640 D3S4381;TA-KRP_1687 FLJ57592;KIAA1842;TA-KRP OTTHUMP00000213470;T-cell activation kelch repeat protein;kelch repeat and BTB domain-containing protein 8 protein-coding ENSG00000163376 30691 18138 VALIDATED 6481298 KCNAB1-AS1 KCNAB1 antisense RNA 1 3 156158946 156164694 - 100874084 ABBA01058840;AC069413;AMYH01013600;BX104028;NR_046618 Hs.131282 APPROVED miscrna ENSG00000242370 40316 PREDICTED 6481289 KCNAB1-AS2 KCNAB1 antisense RNA 2 3 155933349 155945672 - 100874083 ABBA01058840;AC091607;AI792872;AMYH01013599;NR_046617 Hs.603823 APPROVED miscrna ENSG00000240596 40315 PREDICTED 735518 KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 p13 110947299 110949868 - 111136202 111174096 - 1580863;6480464;7242761 17982915 1715584;2251283;18474843;18053989;18042681;18003609;17959782;17576778;17234891;16382104;15588985;15215309;14592966;12944270;12911333;12815189;12477932;12435606;12395204;12151401;11739373;11401852;10896669;10624965;10516156;10428758;10428084;9878055;9635436;8938729;8889548;8662756;8636142;8002006;7905852;7477295;2722779;11551945;12213813;12569367;12917345;19403695;19435843;19713757;19883299;19912772;21044565;20842544;22649228;20584892;21906595;11149959;8980147 3737 A8K1Z6;P16389 ABBA01068393;AK290061;AL365361;AMYH01000945;BC043564;BI907383;BM682747;CH471122;L02752;NG_027997;NM_001204269;NM_004974 AAA36141;AAH43564;BAF82750;EAW56455;EAW56456;NP_001191198;NP_004965;P16389 Hs.248139;Hs.657199;Hs.731191 1796158 KCNA2_869 HBK5;HK4;HUKIV;KV1.2;MGC50217;MK2;NGK1;RBK2 OTTHUMP00000013287;OTTHUMP00000234759;potassium channel;potassium voltage-gated channel subfamily A member 2;voltage-gated K(+) channel HuKIV;voltage-gated potassium channel HBK5;voltage-gated potassium channel protein Kv1.2;voltage-gated potassium channel subunit Kv1.2 APPROVED protein-coding ENSG00000177301 6220 01443 176262 REVIEWED 1342945 KCNA3 potassium voltage-gated channel, shaker-related subfamily, member 3 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008] 1 1 p13.3 111015833 111019178 - 111214310 111217655 - 1580863;6480464 1986382;1373731;19489042;19409928;19295169;19104661;18818304;18611390;17878353;17854350;17582781;17579055;17242956;17160583;17088564;16729292;16382104;16317062;16043714;15632141;15489334;14745040;12909584;12850541;12807917;12632187;12604782;12477932;12150982;7829094;2251283;1547020;9341123;10428084;12944270;10479680;12435606;19371328;19465885;19574640;19590190;19712592;19841189;19850126;19959227;19961728;20060838;20371822;7477295;8938729;20798505;20114030;20601376;20865378;21220411;20884640;21087602;20603149;21586699;21726550;21834013;22110135;22134923;22045429;22931594;22378744;22547057;22169811;22360360;22192444;23300077;18218624;23099443;22258405;22505724;22952817 3738 P22001;Q6P2D3 AA811374;ABBA01068393;AL365361;AMYH01000945;BC035059;BC064595;CA438434;CH471122;L23499;M38217;M55515;M85217;NM_002232 AAA36425;AAA59457;AAB88073;AAC31761;AAH35059;AAH64595;ABM82589;ABM85776;EAW56457;NP_002223;P22001 Hs.169948 1740799;1768939;2170404 D1S3253;D1S3456;SHGC-75313 HGK5;HLK3;HPCN3;HUKIII;KV1.3;MK3;PCN3 OTTHUMP00000032397;potassium channel 3;potassium voltage-gated channel subfamily A member 3;type n potassium channel;voltage-gated K(+) channel HuKIII;voltage-gated potassium channel protein Kv1.3;voltage-gated potassium channel subunit Kv1.3 APPROVED protein-coding ENSG00000177272 6221 15937 176263 REVIEWED 1320074 KCNA7 potassium voltage-gated channel, shaker-related subfamily, member 7 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 46437882 46443410 - 54262487 54268010 - 49570675 49576198 - 1580863;6480464 16382104;15639836;11896454;11368907;9488722;12477932;22438204 3743 Q96RP8 ABBA01032946;AC008687;AF315818;AJ310479;AMYH01009908;AY779768;BC140906;CH471177;NM_031886 AAI40907;AAK63002;AAX11186;CAC29065;EAW52444;NP_114092;Q96RP8 Hs.306973 1796164;5020274;5022651;5037552 D11S2921;D8S2279;KCNA7_873;L18441 HAK6;KV1.7 potassium voltage-gated channel subfamily A member 7;voltage-dependent potassium channel Kv1.7;voltage-gated potassium channel KCNA7;voltage-gated potassium channel subunit Kv1.7 APPROVED protein-coding ENSG00000104848 6226 01445 176268 REVIEWED 732631 KCNB2 potassium voltage-gated channel, Shab-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008] 8 8 8 q13.2 69452496 69847725 + 73612180 74013138 + 73449626 73850584 + 1580863;6480464 9612272;17474147;19010793;18676988;17903301;16382104;14988243;8670833;22422395;20379614;22412388;19074135;20125193 9312 Q92953 ABBA01041958;ABBA01041959;AC011131;AC013562;AC022881;AC022893;AC090735;AF338730;AF450111;AMYH01018786;AMYH01018787;AMYH01018788;AMYH01018789;AMYH01018790;CH471068;NM_004770;U69962 AAB08433;AAI40388;AAK16585;AAP46292;EAW86988;NP_004761;Q92953 Hs.661102 1336793;1649611;1658484;1662380;1687201;1717645;1735836;1754343;1755079;1755947;1772767;1796170;2150682;2177306 D22S443;D8S1434E;D8S1776;KCNB2_877;NIB1578;RH122127;RH71254;RH79592;SHGC-132369;SHGC-142013;SHGC-142768;SHGC-2410;SHGC-31224;WI-19811 KV2.2 OTTHUMP00000226831;delayed rectifier potassium channel protein;potassium channel Kv2.2;potassium voltage gated channel, shab-related subfamily, member 2;potassium voltage-gated channel subfamily B member 2;voltage-gated potassium channel subunit Kv2.2 APPROVED protein-coding ENSG00000182674 6232 09666 607738 REVIEWED 731065 KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012] 12 12 p13 5023346 5026210 + 5153085 5155954 + 1580863;1627654;1627659;1627651;6480464;7240710;7242752;7242761;7242768;7242784 17267549;11358947;17596340;20303989;17982915;15876811;15306225 12970345;12850541;12815189;12601085;12477932;12435606;12130714;12021261;11389904;11149959;10921884;10812072;9760292;9271355;8953041;8821794;8242092;7838127;7615797;2001794;1349297;12860415;1986382;16780588;19443837;19343045;19029374;18987637;18755741;18485768;18385285;18281375;18245566;18218624;18209767;18157847;18083891;18068743;17868645;17428690;17344312;16956964;16902793;16765315;16729292;16466689;16411137;16382104;16236819;16051887;15735608;15623896;15588985;15353504;15217912;15140747;14578345;14527939;13679372;19913121;20556823;20628086;20646426;19332619;19675065;19706553;19961828;20018952;20025600;20133392;20346360;20357183;20638934;20581043;20798505;20184887;17261810;23264583;8889548;22166221;22053194;22939624;23185428;22360360;17060380;22547057;8576199;23390957;15123239;23221389;14506255;21681339 3741 P22460 ABBA01048758;AC005906;AMYH01004197;BC096357;BC096358;BC099665;BC099666;BM663787;BM692565;CH471116;M55513;M60451;M83254;NG_012198;NM_002234 AAA36422;AAA60146;AAA61276;AAH96357;AAH96358;AAH99665;AAH99666;EAW88830;NP_002225;P22460 Hs.150208;Hs.741439 1742905;1743981;1771800;1796162;2218712 GDB:214843;GDB:384722;KCNA5_871;Kcna5;WI-7206 ATFB7;HCK1;HK2;HPCN1;KV1.5;MGC117058;MGC117059;PCN1 OTTHUMP00000238372;cardiac potassium channel;insulinoma and islet potassium channel;potassium channel 1;potassium channel protein;potassium voltage-gated channel subfamily A member 5;voltage-gated potassium channel HK2;voltage-gated potassium channel protein Kv1.5;voltage-gated potassium channel subunit Kv1.5 APPROVED protein-coding ENSG00000130037 6224 08888 176267;612240 REVIEWED 731012 KCNA6 potassium voltage-gated channel, shaker-related subfamily, member 6 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008] 12 12 12 p13 6540177 6582117 + 4788603 4792839 + 4918342 4960278 + 1580863;6480464 18474843;18162557;16382104;15489334;12477932;8821794;2347305;20379614;17207965 3742 P17658 ABBA01048762;AC005833;AC006063;AI369246;AK057863;AMYH01004197;BC069355;CH471116;NM_002235;X17622 AAH69355;ADQ31926;CAA35623;EAW88834;NP_002226;P17658 Hs.306190 1659276;1673484;1733770;2138761;2187409;2191225;5492719 D12S1088;D12S1179E;HSC0CG102;MARC_16417-16418:1033404800:3;STS-X17622;UniSTS:482131;WI-19183 FLJ25134;HBK2;KV1.6 human brain potassium channel-2;potassium voltage-gated channel subfamily A member 6;voltage-gated potassium channel HBK2;voltage-gated potassium channel protein Kv1.6;voltage-gated potassium channel subunit Kv1.6 APPROVED protein-coding ENSG00000151079 6225 08884 176257 REVIEWED 733063 KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. [provided by RefSeq, Jul 2008] 19 19 q13.33 55510577 55524446 - 50818765 50832634 - 1580863;6480464;7240710 1740329;18592334;16501573;16382104;15148151;10820125;10712820;8917565;8111118;19953606;22289912;20301404;21479265;17549794;21543613;21827913 3748 E7ETH1;E9PQY4;Q14003;Q6ZSE9 AB208930;ABBA01068329;ABBA01068330;ABBA01068331;AC008655;AF055989;AK127492;AMYH01009934;AMYH01009935;AMYH01009936;CH471135;NG_008134;NM_004977;Z11585 AAC24118;AAI56303;BAC87004;BAD92167;CAA77671;EAW71844;NP_004968;Q14003 Hs.467146 1339709;1340062;5124446 D19S219;D19S553;RH27338 KSHIIID;KV3.3;SCA13 OTTHUMP00000042078;OTTHUMP00000232123;Shaw-related voltage-gated potassium channel protein 3;potassium voltage-gated channel subfamily C member 3;voltage-gated potassium channel protein KV3.3;voltage-gated potassium channel subunit Kv3.3 APPROVED protein-coding ENSG00000131398 6235 08886 176264;605259 REVIEWED 732211 KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008] 20 20 q13.2 47421912 47532588 - 47988505 48099181 - 1580863;2311121;6480464 12830383 10484328;11852086;19265782;19074135;18690023;18212012;16880266;16382104;16008572;15827117;15353504;15024041;12615930;12560340;12477932;12403834;12060745;12021261;11780052;10921884;10551266;9362476;8980147;8670833;8081723;7774931;19223394;19454037;19717445;20379614;20709754;20566856;20547671;21095721;21455829;19953087;22106938;22411134;22442077;22560931;23251661 3745 Q14721 ABBA01052745;AF026005;AL035685;AMYH01011966;BC110572;BC110573;CH471077;L02840;NM_004975;X68302 AAA36156;AAB88808;AAI10573;AAI10574;AAI56167;AAI72466;CAA48374;EAW75656;NP_004966;Q14721 Hs.84244 1671371;1691356;1796168;2156238;2166717;2174777 AL031795;D20S1096;D20S809;G01535;KCNB1_1313;SHGC-31067 DRK1;KV2.1;h-DRK1 OTTHUMP00000031697;delayed rectifier potassium channel 1;delayed rectifier potassium channel Kv2.1;h-DRK1 K(+) channel;potassium channel protein DRK1;potassium voltage-gated channel subfamily B member 1;voltage-gated potassium channel subunit Kv2.1 APPROVED protein-coding 6231 08983 600397 REVIEWED 6481439 KCNC4-AS1 KCNC4 antisense RNA 1 (head to head) 100873974 AL137790 APPROVED miscrna 39958 1607081 KCNAB1 potassium voltage-gated channel, shaker-related subfamily, beta member 1 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes three distinct isoforms which are encoded by three alternatively spliced transcript variants of this gene. These three isoforms are beta subunits, which form heteromultimeric complex with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Jul 2008] 3 3 q26.1 157321031 157739621 + 155838337 156256927 + 6480464 7499366;18987637;17913586;17903295;16344560;15489334;14702039;14592966;12477932;11401852;10756096;9857044;9341123;8938711;8838324;8636142;8001150;7890764;7890032;7649300;7603988;10477520;20379614;17207965;20800603;21333500;21832049;17620599;19953087;19322201;22547057 7881 B7Z8E5;C9JBV8;C9JQ60;F8W6W4;H7C4S9;Q99869 ABBA01058840;AC022013;AC069413;AC084036;AC091607;AC092927;AC112772;AI344124;AK057059;AK127240;AK292693;AK292999;AK296728;AK303287;AMYH01013598;AMYH01013599;AMYH01013600;AU076410;AY780786;BC043166;BQ721076;CH471052;DA331209;DA408045;DC410397;L39833;L47665;NM_003471;NM_172159;NM_172160;U16953;U17968;U33428 AAC37573;AAC41926;AAC50113;AAC50122;AAC50953;AAH43166;AAV98356;ADQ33020;BAF85382;BAF85688;BAG51856;BAG54461;BAH12421;BAH13931;EAW78732;EAW78733;EAW78734;EAW78735;EAW78736;NP_003462;NP_751891;NP_751892;Q14722 Hs.654519;Hs.703187 1336685;1726413;1754839;1758415;1796166;1847125;2119940;2127025;7184029 D3S1275;G62507;KCNAB1_875;SHGC-141756;SHGC-148274;SHGC-31546;SHGC-32084;STS-N40948 AKR6A3;KCNA1B;KV-BETA-1;Kvb1.3;hKvBeta3;hKvb3 K(+) channel subunit beta-1;OTTHUMP00000213051;OTTHUMP00000213124;OTTHUMP00000213125;OTTHUMP00000213126;OTTHUMP00000213127;potassium channel beta 3 chain;potassium channel beta3 subunit;potassium channel shaker chain beta 1a;potassium voltage-gated channel beta subunit;voltage-gated potassium channel beta-1 subunit;voltage-gated potassium channel subunit beta-1 APPROVED protein-coding ENSG00000169282 6228 03089 601141 REVIEWED 1354203 KCNAB2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010] 1 1 1 p36.3 5201212 5275339 + 6008967 6083110 + 6052358 6161253 + 1580863;6480464 7649300;16713569;16710414;15592455;15489334;14702039;12893943;12477932;12431995;10624965;10428084;9760292;8838324;8636142;8001150;10477520;16344560;23264583;19953087;21139048;21890473;23390957;22505724 8514 B2R776;E7ESI4;K7EIR5;K7EKU4;Q2YD85;Q5TG78;Q5TG79;Q5TG80;Q5TG81;Q5TG84;Q99411 ABBA01035433;ABBA01035434;ABBA01035435;AF029749;AF044253;AK124696;AK131252;AK289819;AK290044;AK312395;AK312871;AK315811;AK315858;AL035406;AMYH01000208;AMYH01000209;AW327942;BC110351;BC126424;BC130413;BI907219;CH471130;CR542264;CR542287;CS252321;CS252323;DA340179;NM_001199860;NM_001199861;NM_001199862;NM_001199863;NM_003636;NM_172130;U33429 AAB84170;AAB99859;AAC50955;AAI10352;AAI26425;AAI30414;ADR82976;BAD18431;BAF82508;BAF82733;BAF98702;BAF98749;BAG35312;BAG35723;BAG54071;CAG47060;CAG47082;CAJ58415;CAJ58416;EAW71512;EAW71513;EAW71514;EAW71515;NP_001186789;NP_001186790;NP_001186791;NP_001186792;NP_003627;NP_742128;Q13303 Hs.440497;Hs.735032 1769428;1797768;1856271;2154730;2158377 G16215;G34855;KCNAB2_2542;SHGC-74145;SHGC-74152 AKR6A5;HKvbeta2;HKvbeta2.1;HKvbeta2.2;KCNA2B;KV-BETA-2;MGC117289 K(+) channel subunit beta-2;K+ channel beta-2 subunit;OTTHUMP00000000874;OTTHUMP00000000875;OTTHUMP00000000877;OTTHUMP00000000878;OTTHUMP00000000885;potassium channel shaker chain beta 2;voltage-gated potassium channel subunit beta-2 APPROVED protein-coding ENSG00000069424 6229 03090 601142 REVIEWED 1350747 KCNAB3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012] 17 17 17 p13.1 7853593 7860422 - 7766752 7773478 - 7825177 7832753 - 1580863;6480464 9857044;17081983;15489334;12477932;8889548;7649300;21832049;19953087;22505724 9196 I3L0P1;I3L4I8;O43448 AA716741;ABBA01054890;AC104581;AF016411;AI090408;AK309378;AK309807;AL079287;AMYH01008086;BC096232;BC096233;BC096234;BC099634;BM727261;BQ277958;CF455307;CH471108;NM_004732 AAB92499;AAH96232;AAH96234;AAH99634;EAW90112;NP_004723;O43448 Hs.435074 1646154;1664186;1856326 SHGC-31370;SHGC-31899;WI-18598 AKR6A9;FLJ99419;KCNA3.1B;KCNA3B;KV-BETA-3;MGC116886 K(+) channel subunit beta-3;K+ channel beta-3 subunit;OTTHUMP00000135310;potassium channel, voltage-dependent, beta-3 subunit;voltage-gated potassium channel subunit beta-3 APPROVED protein-coding ENSG00000170049 6230 04983 604111 REVIEWED 6481345 KCND3-AS1 KCND3 antisense RNA 1 100873995 AL390070 APPROVED miscrna 40317 6481136 KCND3-IT1 KCND3 intronic transcript 1 (non-protein coding) 100874295 AL450997 miscrna 41350 735437 KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Multiple transcript variants encoding different isoforms have been inferred for this gene based on orthologous loci. [provided by RefSeq, Jul 2008] 11 11 11 p15 17890030 17937113 + 17714090 17750755 + 17757495 17804602 + 1580863;6480464 8449507;1400413;16382104;16344560;14702039;12805291;12477932;12060745;7559593;19913121;20628086;19332619;21106837;21945320;23576435;22387313;19213956;21912965 3746 K4DI87;P48547;Q3KNS8 ABBA01061061;ABBA01061062;AC124056;AC124078;AC124301;AI201688;AK123157;AK124243;AK125480;AMYH01003417;AW452561;BC107129;CH471064;DA495469;DN993192;L00621;M96747;NM_001112741;NM_004976;S56770 AAA59458;AAB25764;AAI07130;EAW68425;EAW68426;NP_001106212;NP_004967;P48547 Hs.552896 1336735;1342266;1342280;1775432;1796172;2158465;5124446 D11S1888;D11S2313E;D11S4130;D11S4138;KCNC1_879;RH15955;RH27338 FLJ41162;FLJ42249;FLJ43491;KV3.1;KV4;MGC129855;NGK2 OTTHUMP00000232718;OTTHUMP00000232719;potassium voltage-gated channel subfamily C member 1;voltage-gated potassium channel protein KV3.1;voltage-gated potassium channel subunit Kv3.1;voltage-gated potassium channel subunit Kv4 APPROVED protein-coding ENSG00000129159 6233 15936 176258 REVIEWED 736950 KCNC2 potassium voltage-gated channel, Shaw-related subfamily, member 2 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 12 q14.1 75101336 75270876 - 73720163 73889778 - 75433858 75603528 - 1580863;6480464 16382104;14702039;12477932;8111118;12805291;19332619;16344560;21912965 3747 Q96PR1 AB209994;ABBA01026470;ABBA01026471;AC073525;AC091534;AC130405;AF268896;AF268897;AK094720;AK126235;AK294269;AK309245;AMYH01004590;AMYH01004591;AY118169;AY243473;BC093635;BC111991;CH471054;DA218546;DC323864;NM_001260497;NM_001260498;NM_001260499;NM_139136;NM_139137;NM_153748 AAH93635;AAI11992;AAL27272;AAL27273;AAM81577;AAO89503;BAC04407;BAE06076;BAH11717;EAW97287;EAW97288;EAW97289;EAW97290;EAW97291;EAW97292;EAW97293;EAW97294;NP_001247426;NP_001247427;NP_001247428;NP_631874;NP_631875;NP_715624;Q96PR1 Hs.27214;Hs.741918 1655875;1709938;1736276;1797770;2169316;2177852 A004A47;D12S1231E;HSC2JH102;KCNC2_2525;SGC30445;SHGC-82234 KV3.2;MGC138196 OTTHUMP00000241942;OTTHUMP00000241943;OTTHUMP00000241944;OTTHUMP00000241945;OTTHUMP00000241946;OTTHUMP00000241947;potassium voltage-gated channel subfamily C member 2;voltage-gated potassium channel Kv3.2 APPROVED protein-coding ENSG00000166006 6234 08883 176256 REVIEWED 1348258 KCNC4 potassium voltage-gated channel, Shaw-related subfamily, member 4 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 1 1 p21 110555588 110578189 + 110753336 110776674 + 1580863;6480464 1920536;16710414;16449802;16382104;15489334;15485486;12477932;9649584;7993631;1740329;22473424;16341674;16344560;20378681;20593490;20707712;20093253;21912965 3749 H7BZ66;Q03721 ABBA01068388;ABBA01068389;AI369490;AK125567;AK310193;AL137790;AMYH01000943;BC025377;BC101769;BF969982;BM765446;BX098184;BX537638;CH471122;CK823243;DA111555;DA404087;DA902474;DA936036;M64676;NM_001039574;NM_004978;NR_036437 AAA57263;AAI01770;EAW56433;EAW56434;EAW56435;EAW56436;NP_001034663;NP_004969;Q03721 Hs.153521 1648770;1655381;1696468;1709592;1724297;1778708;1796174;5124446 Cda0qh11;KCNC4_1814;RH120403;RH27338;RH66840;SHGC-75309;SHGC-79790;SHGC-85156 C1orf30;HKSHIIIC;KSHIIIC;KV3.4;MGC126818 K+ channel subunit;OTTHUMP00000012717;OTTHUMP00000195596;OTTHUMP00000229419;OTTHUMP00000233377;potassium voltage-gated channel subfamily C member 4;voltage-gated potassium channel subunit KV3.4 APPROVED protein-coding ENSG00000116396 6236 08887 176265 REVIEWED 68576 KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008] 1 1 p13.3 112119977 112333300 - 112318454 112531777 - 1581430;6480464 16141270 8734615;19213956;18678642;18620005;18052691;17725712;17506992;16782062;16710414;16382104;15890703;15578212;15563876;15498806;14980207;14645239;12928444;12477932;12297301;10942109;10729221;10200233;9843794;20354865;20550899;19927631;20379614;22610502;22683750;20649599;21129448;23280837;23280838;21422811;21349352;22198508;22023388;22457051;22589738;22387313;23291429 3752 Q14D71;Q9UK17 ABBA01068399;ABBA01068400;AF048712;AF048713;AF120491;AF137071;AF166009;AF166011;AF187963;AF187964;AF205856;AF205857;AL049557;AL390070;AL450997;AL512665;AMYH01000947;BC113475;BC113477;BC143390;CH471122;NG_032011;NM_004980;NM_172198 AAC05121;AAC05122;AAD38898;AAF01044;AAF01045;AAF20924;AAF20925;AAF68177;AAF68178;AAI13476;AAI13478;AAI43391;ADR83090;EAW56510;EAW56511;EAW56512;NP_004971;NP_751948;Q9UK17 Hs.666367 1336363;1340961;1648762;1667331;1692554;1710980;1717185;1729225;1729914;1740529;1760725;1767273;2109443;2123396;2129878;2148659;2179414;7184654;7185565 AL009441;AL009644;AL009679;AL009944;AL033924;D1S175;D1S187;D1S3009;D1S3047;D1S3159;D1S502;G16221;KCND3_2907;M98989;RH121515;SHGC-144251;SHGC-84861 KCND3L;KCND3S;KSHIVB;KV4.3;MGC142035;MGC142037 OTTHUMP00000013771;OTTHUMP00000013772;potassium ionic channel Kv4.3;potassium voltage-gated channel subfamily D member 3;sha1-related potassium channel Kv4.3;voltage-gated K+ channel;voltage-gated potassium channel Kv4.3;voltage-gated potassium channel subunit Kv4.3 APPROVED protein-coding ENSG00000171385 6239 16104 605411 REVIEWED 1347714 KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This gene is expressed at moderate levels in all tissues analyzed, with lower levels in skeletal muscle. [provided by RefSeq, Jul 2008] X X X p11.23 52835266 52844878 + 48703583 48713195 - 48818639 48828251 - 724442;1581430;6480464 10729221;16141270 14702039;19401188;16382104;15489334;15454437;12477932;11423117;10479680 3750 A6NEF1;H7C3V4;Q9NSA2 AB021865;ABBA01046088;ABBA01046089;ABBA01046090;AC233294;AF166003;AF166006;AF207550;AJ005898;AK094431;AK315092;AMYH01022291;BC045659;CH471224;NG_012515;NM_004979 AAF65516;AAF65617;AAH45659;BAA96454;BAG37557;BAG52865;CAA06755;EAW50720;EAW50721;NP_004970;Q9NSA2 Hs.55276 1666591;1680819;1689492;1796176 KCND1_1329;RH91735;RH93281;STS-Z38762 KV4.1 OTTHUMP00000025805;OTTHUMP00000025806;potassium voltage-gated channel subfamily D member 1;shal-type potassium channel;voltage-gated potassium channel Kv4.1;voltage-gated potassium channel subunit Kv4.1 APPROVED protein-coding ENSG00000102057 6237 02233 300281 REVIEWED 68574 KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008] 7 7 q31 119700958 120177623 + 119913722 120390387 + 1581430;1580863;6480464 16141270 11287421;11102480;12493773;19401682;19213956;19171772;18463498;18364354;17981906;17102134;16934482;16820361;16382104;16260497;15991246;15563876;15489334;15454437;15358149;15184042;14980207;14980201;14623880;14559911;12853948;12690205;12477932;12451113;12435606;11847232;11606724;10942109;10729221;10676964;10551270;10479680;10470851;9843794;19596445;20031566;20379614;19453640;20498229;20709747;22610502;22122031;22488850;19361449;23225603 3751 A4D0V9;H7C445;Q9NZV8 AACC02000001;AB028967;ABBA01057766;ABBA01057767;ABBA01057768;ABBA01057769;ABBA01057770;AC004888;AC004946;AC006332;AC007026;AC073884;AC092020;AF121104;AF142568;AF166007;AF166008;AJ010969;AMYH01017892;BC110449;BC110450;CH236947;CH471070;NM_012281 AAC83405;AAD22053;AAD52159;AAF65618;AAI10450;AAI10451;AAS07530;BAA82996;CAB56841;EAL24350;EAW83541;NP_036413;Q9NZV8 Hs.654739 1338795;1653126;1675057;1678733;1708076;1711754;1723741;1727417;1750153;1771594;1796178;1857044;2127273;2133881;2143940;2147203;2154345;2169359;2174203;2177266;2184101;5016055;7186971 A004D07;D7S1436;D7S1652;D7S1915;D7S2093E;D7S2487;D7S2892;D7S99;G31102;G49386;G63116;GDB:1317200;GDB:3755049;GDB:6028511;KCND2_881;MDB1071;RH118760;RH75415;SHGC-112257;SHGC-81435;WI-18408;WI-19785 KIAA1044;KV4.2;MGC119702;MGC119703;RK5 OTTHUMP00000211253;potassium voltage-gated channel subfamily D member 2;voltage-gated potassium channel Kv4.2;voltage-gated potassium channel subunit Kv4.2;voltage-sensitive potassium channel APPROVED protein-coding ENSG00000184408 6238 09254 605410 REVIEWED 1345038 KCNE1L KCNE1-like Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. [provided by RefSeq, Jul 2008] X X X q22.3 109346567 109348031 - 108753585 108755049 - 108866929 108868393 - 1580863;6480464 21985337;10493825;18313602;16303284;16054468;15489334;15368194;15193977;12477932;8125298;21832049;21493962;21730298;12324418 23630 Q5JWV7;Q9UJ90 ABBA01043484;AF086499;AJ012743;AK223306;AK314923;AL118496;AMYH01022839;BC035330;CH471120;DQ192294;DQ784807;EF535525;NG_013241;NM_012282 AAH35330;ABB00307;ABM82213;ABM85397;ABM87648;ABM87655;ABM87658;ABM87663;ABQ01242;ABQ08564;BAD97026;BAG37431;CAB58359;EAX02676;NP_036414;Q9UJ90 Hs.522753 2148465;2217512 KCNE1L_456.2;WI-17685 KCNE5 AMME syndrome candidate gene 2 protein;AMMECR2 protein;OTTHUMP00000023845;cardiac voltage-gated potassium channel accessory subunit 5;potassium voltage-gated channel subfamily E member 1-like protein;potassium voltage-gated channel, Isk-related family, member 1-like APPROVED protein-coding ENSG00000176076 6241 02268 300328 REVIEWED 1319904 KCNG2 potassium voltage-gated channel, subfamily G, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008] 18 18 18 q23 74395926 74431476 + 75724656 75760804 + 77623668 77659816 + 1580863;6480464 10551266;16382104 26251 Q9UJ96 ABBA01013898;ABBA01013899;AC114341;AJ011021;AMYH01009135;AMYH01009136;GM674295;NM_012283 AAI69276;AAI69278;CAB56834;CAV32986;NP_036415;Q9UJ96 Hs.247905 KCNF2;KV6.2 OTTHUMP00000041994;cardiac potassium channel subunit;potassium voltage-gated channel subfamily G member 2;voltage-gated potassium channel subunit Kv6.2 APPROVED protein-coding ENSG00000178342 6249 12036 605696 REVIEWED 731917 KCNE2 potassium voltage-gated channel, Isk-related family, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008] 21 21 q22.12 34658193 34665310 + 35736323 35743440 + 633041;1580501;1580502;1580863;6480464;7240710;7242918;7243942 10219239;15368194;15840476;20381460;19267230 16780588;19372218;19322600;19219384;19198609;19149796;19077539;18752142;18676988;18501111;18221016;17905336;17895974;17676362;17534376;17310097;17275752;17210839;16818214;16631607;16487842;16487223;16414944;16303284;15746444;15489334;15176425;15066947;15051636;14760488;14661677;12923204;12856183;12477932;12185453;11874988;11329013;11313306;11289718;11278781;11101505;11034315;10830953;19913121;20628086;19716085;20042375;20108749;20298200;20386770;20400777;20738937;20920651;20971364;21063070;21063774;20625512;21087668;22180649;21946350;20301308;22166675;20881960;23192594;23504710 9992 Q2N1I3;Q9Y6J6 ABBA01057366;AF071002;AF086086;AF302095;AMYH01012214;AP000320;BC093892;BC112087;BG221966;CH471079;DQ192290;DQ784804;NG_008804;NM_172201 AAD28086;AAG13416;AAH93892;AAI12088;ABB00303;ABQ01239;EAX09790;EAX09791;NP_751951;Q9Y6J6 Hs.551521;Hs.736062 1796180;2161525;5021872;5037552 D8S2279;KCNE2_1321;SHGC-87567;sY3084 ATFB4;LQT5;LQT6;MGC138292;MIRP1 OTTHUMP00000108568;cardiac voltage-gated potassium channel accessory subunit 2;minK-related peptide 1;minK-related peptide-1;minimum potassium ion channel-related peptide 1;potassium channel subunit beta MiRP1;potassium channel subunit, MiRP1;potassium voltage-gated channel subfamily E member 2;voltage-gated K+ channel subunit MIRP1 APPROVED protein-coding ENSG00000159197 6242 04813 603796;611493;613693 REVIEWED 736969 KCNE1 potassium voltage-gated channel, Isk-related family, member 1 The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 21 21 q22.12 34740858 34806443 - 35818986 35884573 - 1580498;1580499;1580863;1580502;1642301;6480464;7242918;1580497;7240710 12228786;9445165;15840476;16497176;20381460;15389592 9354802;9230439;9020846;8900283;16780588;19660109;19523148;19521339;19372218;19340287;19322600;19305639;19305408;19219384;19218243;19202166;19156197;19149796;19139916;19131515;19019189;18956684;18931301;18803136;18757482;18674739;18611041;18504315;18441444;18426444;18398469;18279388;18157847;18079560;17980676;17895974;17892302;17646758;17626898;17545244;17534376;17384445;17341399;17310097;17275752;17227789;17210839;17165161;17141204;17065152;17905336;17016049;16823764;16818214;16631607;16610241;16563243;16487842;16487223;16414944;16374062;16344560;16308347;16303284;16266404;16132053;15746444;15698834;15489334;15176425;15051636;14761891;14760488;14702039;14661677;14527430;12634932;12477932;12084623;11891569;11874988;11799244;11714488;11697903;11692163;11289718;11104781;10973849;10830953;10493825;10400998;9354783;9328483;9312006;8899564;8432548;7828904;7622063;2730656;11101505;16155735;19913121;20553101;20628086;20139709;1553557;19695459;19716085;19860128;19907016;19940153;20034061;20062063;20108749;20117060;20185111;20215044;20298200;20386770;20400777;20424473;20920651;20962273;21063070;21063774;21070882;20479109;20301579;21231794;21149716;21244686;21212535;21576493;20494980;23650380;21691061;19114714;21730298;21811988;22085289;21854832;22471742;22999324;22908235;22250012;17289006;21676880;20301308;22100668;11299204;23359697;23020083;23129484;23504710 3753 A7LFK2;A7LFK4;C7S316;P15382;Q6FHJ6 ABBA01057368;AF135188;AI720140;AK095442;AK304336;AK311384;AK313543;AMYH01012215;AP000323;AP000324;AP000325;AP000326;AY789479;AY789480;BC036452;BC046224;BC069055;CD370857;CH471079;CR541756;DA418828;DA806205;DB089177;DB214219;DB223354;DB230009;DB233067;DQ784803;EF514881;EF514882;EF514883;EU008568;EU008569;EU008570;L28168;L33815;M26685;NG_009091;NM_000219;NM_001127668;NM_001127669;NM_001127670;NM_001270402;NM_001270403;NM_001270404;NM_001270405 AAA36129;AAA58418;AAA63905;AAD25096;AAH36452;AAH46224;AAX11417;AAX11418;ABQ01238;ABS31132;ABS31133;ABS31134;ABS84249;ABS84250;ABS84251;ADZ15784;BAG36319;BAG65181;CAG46556;EAX09783;NP_000210;NP_001121140;NP_001121141;NP_001121142;NP_001257331;NP_001257332;NP_001257333;NP_001257334;P15382 Hs.121495;Hs.745384 1670259;1674875;1680671;1682389;1742125;1745867;1748535;1759879;2176615;2217514;7185659 GDB:191985;GDB:679404;KCNE1_3108;RH38897;SHGC-1246;SHGC-170119;SHGC-51850;SHGC-6903;SHGC-87562;SHGC-87563 FLJ18426;FLJ38123;FLJ94103;ISK;JLNS;JLNS2;LQT2/5;LQT5;MGC33114;MinK IKs producing slow voltage-gated potassium channel subunit beta Mink;OTTHUMP00000108623;OTTHUMP00000108624;OTTHUMP00000108625;OTTHUMP00000108626;cardiac delayed rectifier potassium channel protein;delayed rectifier potassium channel subunit IsK;minimal potassium channel;potassium voltage-gated channel subfamily E member 1;potassium voltage-gated channel, Isk-related subfamily, member 1;voltage gated potassiun channel accessory subunit APPROVED protein-coding ENSG00000180509 6240 01442 176261;612347;613695 REVIEWED 1347000 KCNE3 potassium voltage-gated channel, Isk-related family, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008] 11 11 q13.4 73843534 73856248 - 74165886 74178600 - 633041;1600040;1580863;6480464;7240710 10219239;11207363 19306396;19077539;18209471;17495071;16782062;16449802;16374062;16341674;16308347;16303284;15489334;15212652;15037716;14504341;12477932;12414843;11956246;11874988;11680623;11104781;10646604;8889548;19913121;20628086;19122847;19961415;20034061;20040519;21900206;22190306;21899751;22144915;20301690;22987075 10008 E9PJQ7;E9PJV9;E9PN03;Q2N1I1;Q6IAE6;Q9Y6H6 ABBA01017487;ABBA01017488;AF076531;AF302494;AK311876;AMYH01003813;AP001372;BC032235;BC110612;BC113743;BM757131;CD709836;CH471076;CK301015;CR457209;CR936625;DQ192291;DQ192292;DQ784805;DR006135;NG_011833;NM_005472 AAD28089;AAG16255;AAI10613;AAI13744;ABB00304;ABB00305;ABM81941;ABQ01240;BAG34817;CAG33490;CAI56768;EAW74938;NP_005463;Q9Y6H6 Hs.523899 1666199;1708452;1723127;1796182;2162579;5015619 D11S3114;KCNE3_883;RH123748;RH67902;SHGC-36243;SHGC-85010 DKFZp781H21101;HOKPP;HYPP;MGC102685;MGC129924;MiRP2 OTTHUMP00000230582;OTTHUMP00000230585;OTTHUMP00000230586;cardiac voltage-gated potassium channel accessory subunit;minK-related peptide 2;minimum potassium ion channel-related peptide 2;potassium channel subunit beta MiRP2;potassium voltage-gated channel subfamily E member 3;voltage-gated K+ channel subunit MIRP2 APPROVED protein-coding ENSG00000175538 6243 07256 604433;613119 REVIEWED 6481125 KCNH1-IT1 KCNH1 intronic transcript 1 (non-protein coding) 100874296 AC092017 miscrna 41351 1346142 KCNE4 potassium voltage-gated channel, Isk-related family, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008] 2 2 q36.1 223625106 223628599 + 223916862 223920355 + 633041;1580863;6480464 10219239 16563243;12670483;18029348;19029186;18463315;18279388;17016049;16303284;15815621;15707997;15489334;15342556;12944270;12477932;12096056;8889548;20498229;20966902;19684603;19773357;21118809 23704 A5H1P5;B7Z275;Q8WWG9 ABBA01023805;AC017014;AK294423;AK313203;AMYH01011523;AY065987;BC014429;BM662449;BP348485;BP359441;BP362695;CH471063;DQ192293;DQ784806;NM_080671 AAH14429;AAL49979;AAX93228;ABB00306;ABM83442;ABQ01241;ABW03499;BAG36019;BAH11761;EAW70810;NP_542402;Q8WWG9 Hs.348522 1797772 KCNE4_2454 MGC20353;MIRP3 MINK-related peptide 3;OTTHUMP00000203809;cardiac voltage-gated potassium channel accessory subunit 4;minimum potassium ion channel-related peptide 3;potassium channel subunit beta MiRP3;potassium voltage-gated channel subfamily E member 4 APPROVED protein-coding ENSG00000152049 6244 09689 607775 VALIDATED 735852 KCNF1 potassium voltage-gated channel, subfamily F, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008] 2 2 2 p25 10967196 10969484 + 10969514 10971802 + 11052063 11054351 + 1580863;6480464 9434767;16382104;15489334;12477932;12060745 3754 Q9H3M0 ABBA01015634;AC019041;AF029780;AF033382;AMYH01010106;AMYH01010107;BC026110;CH471053;NM_002236 AAC05597;AAG43055;AAH26110;AAX81991;ABW03736;EAX00946;NP_002227;Q9H3M0 Hs.23735 1739995;1778099;1854956;2129074 A005K01;D2S2129;RH78053;RH79190 IK8;KCNF;KV5.1;MGC33316;kH1 OTTHUMP00000147594;potassium channel KH1;potassium channel Kv5.1;potassium voltage-gated channel subfamily F member 1;voltage-gated potassium channel subunit Kv5.1 APPROVED protein-coding ENSG00000162975 6246 04808 603787 REVIEWED 733889 KCNH4 potassium voltage-gated channel, subfamily H (eag-related), member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36964227 36987523 - 37562439 37586822 - 40308910 40333296 - 70783;1580863;6480464 10455180 16382104;12890647;19913121;20628086 23415 Q9UQ05 AB022698;ABBA01006434;ABBA01006435;AC099811;AMYH01008391;AW084816;CH471152;NM_012285 AAI40293;BAA83592;EAW60809;NP_036417;Q9UQ05 Hs.304081 1732245;1733476;2133356 D17S1138;D17S1245;D6S2066 BEC2;ELK1;Kv12.3 ELK channel 1;brain-specific eag-like channel 2;ether-a-go-go K(+) channel family member;ether-a-go-go-like potassium channel 1;potassium voltage-gated channel subfamily H member 4;voltage-gated potassium channel subunit Kv12.3 APPROVED protein-coding ENSG00000089558 6253 05165 604528 REVIEWED 1604067 KCNG1 potassium voltage-gated channel, subfamily G, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008] 20 20 20 q13 46324438 46343920 - 49053600 49073082 - 49620193 49639675 - 6480464 9434767;16382104;16344560;15489334;15146197;12477932;11780052;8980147;18029348;21906983 3755 A2A2I8;A2A2I9;Q5JXL4;Q86Y85;Q9UIX4 ABBA01052792;AF033383;AK290689;AL050404;AL121785;AMYH01011978;AW162513;BC006367;BC046629;BG029104;CH471077;CN301212;CN480356;DA576272;DA580190;DA684016;NM_002237 AAC05635;AAH06367;AAH46629;BAF83378;EAW75605;NP_002228;Q9UIX4 Hs.118695;Hs.735151 2144881 RH48820 K13;KCNG;KV6.1;MGC12878;kH2 OTTHUMP00000043416;OTTHUMP00000165779;potassium channel KH2;potassium channel Kv6.1;potassium voltage-gated channel subfamily G member 1;voltage-gated potassium channel subunit Kv6.1 APPROVED protein-coding ENSG00000026559 6248 04809 603788 REVIEWED 68584 KCNH1 potassium voltage-gated channel, subfamily H (eag-related), member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 q32.2 208923178 209374080 - 210851657 211307457 - 1580863;6480464 9738473;19172261;18927085;18650019;18222922;18080766;17873312;17520698;17451210;17360457;17022811;16537547;16478480;16382104;15548764;15466192;12477932;12060745;11943152;11834728;10880439;10523298;9722534;8159766;21138547;22466864;22778627;21320466;21508374;20523736;21315112;19932096;20083228;20105281;20116193;20201926;20379614;20708613;20933057;20126398;22930803;21559285;21887469;22061963;22248279;22357737;23144454;22310694;22984610;23470693;23381795;22841712;22999387;22495877 3756 O95259 ABBA01048194;ABBA01048195;ABBA01048196;ABBA01048197;AC092017;AC096636;AC099755;AF078741;AF078742;AJ001366;AK127526;AL590132;AL603791;AMYH01001698;BC113709;BC143599;CH471100;NG_029777;NM_002238;NM_172362 AAC68668;AAC68669;AAI13710;AAI43600;CAA04700;EAW93424;EAW93425;NP_002229;NP_758872;O95259 Hs.553187 1334670;1341025;1692892;1696220;1700762;1709460;1725263;1760993;1765897;1777829;1796184;1878266;2156670;2161037;7187006 AL009671;AL009751;AL010063;AL034158;D1S2812;D1S414;KCNH1_338;REN9820;RH104006;RH120086;SHGC-144939;SHGC-149312;SHGC-78765;SHGC-81779 EAG;EAG1;Kv10.1;MGC142269;h-eag EAG channel 1;OTTHUMP00000034451;OTTHUMP00000034569;ether-a-go-go potassium channel 1;ether-a-go-go, Drosophila, homolog of;hEAG1;potassium channel, voltage-gated, subfamily H, member 1;potassium voltage-gated channel subfamily H member 1;voltage-gated potassium channel subunit Kv10.1 APPROVED protein-coding 6250 04492 603305 REVIEWED 735863 KCNG3 potassium voltage-gated channel, subfamily G, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 2 p21 42509472 42561403 - 42522661 42574741 - 42669157 42721237 - 727345;1580863;6480464 11852086 22204340;12060745;19074135;16382104;15489334;15046870;12477932;17207965 170850 Q8TAE7 AB070604;ABBA01075061;ABBA01075062;ABBA01075063;ABBA01075064;AC025750;AF348982;AF454547;AF454548;AMYH01010286;BC071558;CH471053;NM_133329;NM_172344 AAH71558;AAL83909;AAM93548;AAM93549;AAY24039;ADQ31921;BAB85520;EAX00318;EAX00319;NP_579875;NP_758847;Q8TAE7 Hs.352633 1727383;2185973;2189523 D2S1825;G63099;RH143571 KV10.1;KV6.3 OTTHUMP00000158763;OTTHUMP00000158764;OTTHUMP00000201478;OTTHUMP00000201479;potassium voltage-gated channel subfamily G member 3;voltage-gated potassium channel 6.3;voltage-gated potassium channel Kv10.1;voltage-gated potassium channel subunit Kv10.1;voltage-gated potassium channel subunit Kv6.3;voltage-gated potassium channel subunit Kv6.4 APPROVED protein-coding ENSG00000171126 18306 16232 606767 REVIEWED 733984 KCNH3 potassium voltage-gated channel, subfamily H (eag-related), member 3 12 12 12 q13 48727399 48746536 + 48219207 48238344 + 49932940 49952077 + 70783;1580863;6480464 10455180 16382104;12890647;10574462;12477932;19923296;20638388 23416 Q8N500;Q9ULD8 AB022696;AB033108;ABBA01031528;AC020612;AMYH01004445;BC033141;BC144254;BC150602;CH471111;NM_012284 AAH33141;AAI50603;BAA83590;BAA86596;EAW58073;EAW58074;NP_036416;Q9ULD8 Hs.64064 1658299;1797774;2108819;2118547 KCNH3_2115;MCRS1_9110;RH41888;STS-F09935 BEC1;ELK2;KIAA1282;Kv12.2 ELK channel 2;OTTHUMP00000241404;brain-specific eag-like channel 1;ether-a-go-go K(+) channel family member;ether-a-go-go-like potassium channel 2;potassium voltage-gated channel subfamily H member 3;voltage-gated potassium channel subunit Kv12.2 protein-coding ENSG00000135519 6252 05164 604527 VALIDATED 1318394 KCNG4 potassium voltage-gated channel, subfamily G, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008] 16 16 16 q24.1 68557618 68575161 - 82813324 82830857 - 84254741 84273356 - 1580863;6480464 19074135;16382104;16096342;15489334;12477932;12060745;8889548;20379614;19717558;22589738 93107 Q32MC1;Q547S7;Q8TDN1 ABBA01016918;AC009123;AF348984;AF450108;AMYH01007867;BC008969;BC109203;BQ185567;CH471114;NM_172347 AAH08969;AAI09204;AAL83911;AAP46289;ABM84180;ABM87582;EAW95488;EAW95489;EAW95490;NP_758857;Q8TDN1 Hs.335877;Hs.560407;Hs.737415 1776010;2218556 KCNG4_4116;SHGC-8469 KV6.3;KV6.4;MGC129609;MGC4558 OTTHUMP00000174990;potassium voltage-gated channel subfamily G member 4;potassium voltage-gated channel, subfamily G, member 4, isoform 1;voltage-gated potassium channel Kv6.3;voltage-gated potassium channel subunit Kv6.4 APPROVED protein-coding 19697 16253 607603 REVIEWED 1352658 KCNH8 potassium voltage-gated channel, subfamily H (eag-related), member 8 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008] 3 3 3 p24.3 19130110 19517673 + 19165021 19552139 + 19190017 19577135 + 1580863;6480464 17903296;16382104;12890647;12477932;11897058;19913121;20628086 131096 B7Z2I7;F8WCG6;Q96L42 AB209053;ABBA01025100;ABBA01025101;ABBA01025102;ABBA01025103;ABBA01025104;ABBA01025105;ABBA01025106;AC015542;AC061958;AC099538;AC116098;AC135452;AC138315;AK294417;AK294759;AK295633;AK309034;AMYH01013011;AMYH01013012;AY053503;BC031226;CH471055;NM_144633 AAI52894;AAL15429;BAD92290;BAH11759;BAH11873;BAH12134;EAW64296;EAW64297;NP_653234;Q96L42 Hs.475656 1337576;1655328;1696252;1705850;1722371;1727747;1751799;1767825;1797778;2117220 074YF3;D3S2487;D3S3726;G60257;G63139;KCNH8_2484;SHGC-105820;SHGC-76747;SHGC-81183;SHGC-83625 ELK;ELK1;Kv12.1;elk3 ELK channel 3;OTTHUMP00000160336;ether-a-go-go-like potassium channel 1;ether-a-go-go-like potassium channel 3;hElk1;potassium voltage-gated channel subfamily H member 8;voltage-gated potassium channel subunit Kv12.1 APPROVED protein-coding ENSG00000183960 18864 10006 608260 REVIEWED 734396 KCNH7 potassium voltage-gated channel, subfamily H (eag-related), member 7 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 2 q24.2 156838249 157305494 - 162936163 163403486 - 163227917 163695257 - 1580863;6480464 17474147;19156166;18285833;16382104;15961404;12634931;12477932;10414305;19913121;20628086;20379614;20953190;22359512 90134 Q9NS40 ABBA01004893;ABBA01004894;ABBA01004895;ABBA01004896;ABBA01004897;AC007740;AC010876;AC011900;AC093082;AC104822;AC139719;AF032897;AK098545;AMYH01011214;AMYH01011215;BC035815;CH471058;DR002425;NM_033272;NM_173162 AAD01946;AAH35815;AAX93139;AAX93153;AAY24106;EAX11346;NP_150375;NP_775185;Q9NS40 Hs.657413 1337565;1686126;1697804;1714617;1751023;1761269;1797776;1856932;2125441;2177514 A004C18;D2S2395;KCNH7_1882;RH102426;RH11941;RH119974;RH92733;SHGC-104913;SHGC-145272;SHGC-30444 ERG3;HERG3;Kv11.3;MGC45986 ERG-3;OTTHUMP00000162950;OTTHUMP00000162951;eag related protein 3;eag-related protein 3;ether-a-go-go related gene potassium channel 3;ether-a-go-go-related gene potassium channel 3;ether-a-go-go-related protein 3;potassium channel erg3;potassium channel subunit HERG-3;potassium voltage-gated channel subfamily H member 7;voltage-gated potassium channel subunit Kv11.3 APPROVED protein-coding ENSG00000184611 18863 16295 608169 REVIEWED 2300352 KCNIP4-IT1 KCNIP4 intronic transcript 1 (non-protein coding) 4 4 4 p15.2 22295154 22304999 - 21454062 21463909 - 21844964 21854811 - 12515386;23251661 359822 ABBA01032657;AC107462;AMYH01014052;AY072607;AY072608;AY072611;BK000166;NR_002813 Hs.354058 NCRNA00099;UM9(5);UM9-5 APPROVED miscrna 29895 PREDICTED 731415 KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5 This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 14 q23.2 43224258 43619167 - 62243698 62638337 - 63173945 63568584 - 1580863;6480464 19172261;18349282;16382104;16303743;15489334;14702039;12477932;12135768;11943152;10524757;18655026;19850283;20379614;20800603;22589738;22792721;22855790;23377640 27133 Q86XI1;Q8NCM2 ABBA01018314;ABBA01018315;ABBA01018316;ABBA01018317;ABBA01018318;ABBA01018319;AF418206;AF472412;AF493798;AK074484;AL109985;AL132666;AL137191;AL355101;AMYH01005785;AMYH01005786;AMYH01005787;AMYH01005788;AMYH01005789;AW628656;BC043409;BC073979;BU147537;CH471061;NM_139318;NM_172375;NM_172376;U69185 AAH43409;AAH73979;AAM28435;AAM49565;AAM49574;BAC11016;EAW80818;EAW80819;NP_647479;NP_758963;NP_758964;Q8NCM2 Hs.27043 1335355;1336011;1676412;1719321;1772056;1796186;1853327;2126711;7187881 D14S1059;D14S1251;D14S290;KCNH5_1311;RH123385;RH91702;SHGC-52823;UniSTS:496048 EAG2;H-EAG2;Kv10.2;hEAG2 OTTHUMP00000028093;OTTHUMP00000245140;OTTHUMP00000245141;OTTHUMP00000245142;ether-a-go-go potassium channel 2;ether-a-go-go-related potassium channel 2;hEAG2;potassium channel HEAG2;potassium voltage-gated channel subfamily H member 5;voltage-gated potassium channel EAG2;voltage-gated potassium channel subunit Kv10.2 APPROVED protein-coding ENSG00000140015 6254 10421 605716 REVIEWED 732101 KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 q36.1 150272982 150305947 - 150642044 150675402 - 1580503;1580863;1580502;6480464;7240710 15828882;15840476 7736582;19551538;19501051;19490382;19479660;19439805;19424205;19413965;19412172;19409379;19406877;19324319;19322600;19305409;19305408;19244476;19234087;19187913;19172259;19160088;19149796;19088443;19088442;19070294;19065538;19034806;19034039;19034038;19032804;19029296;19027781;19019189;19002712;18987434;18984536;18948620;18923542;18848812;18808722;18791070;18785031;18776039;18774102;18752142;18708743;18690032;18680509;18675227;18634834;18617000;18616963;18599551;18596570;18593567;18590565;18570888;18559421;18551196;18504605;18441445;18426444;18414380;18386051;18362022;18345496;18272172;18222980;18209470;18192214;18191158;18162604;18096051;18048364;18042732;17976575;17938585;17905336;17895974;17852802;17823114;17763876;17762170;17709632;17693551;17624316;17576861;17569659;17560885;17534376;17531263;17516459;17444521;17429906;17420287;17363390;17293393;17275752;17272276;17239714;17227789;17210839;17171344;17120019;17056009;17042915;16923798;16914520;16883575;16880338;16818214;16771953;16769794;16723117;16556651;16550488;16524878;16506891;16487842;16487223;16474003;16472284;16467651;16432067;16414944;16407206;16399053;16382104;16265378;16263765;16253915;16244363;16166152;16155735;16132053;16011830;15973763;15961404;15851119;15800067;15778703;15760896;15746444;15699249;15572050;15534720;15528201;15522280;15489334;15475579;15367556;15365637;15365094;15364333;15304481;15231497;15211519;15202000;15181157;15176425;15120823;15051636;14998624;14975928;14973143;14760488;14744775;14714110;14676148;14674677;14661677;14525949;12902341;12885765;12853948;12849668;12829173;12804575;12736144;12695533;12690509;12690205;12634931;12626667;12621127;12593854;12560090;12527373;12477932;12442276;12431979;12427763;12402336;12354768;12270925;12209010;12151390;12142119;12063277;12062363;12021266;11864985;11854117;11743032;11741928;11374908;11289718;11278781;11170080;11136691;10996323;10973849;10862104;10862094;10837251;10790218;10735633;10517660;10220144;10219239;10187793;10086971;9845367;9765245;9714291;9693036;9600240;9544837;9511785;9509262;9351462;9351446;9230439;11997281;11953308;9024139;8914737;8877771;8635257;8587608;8159766;7889573;7842012;7604285;16169070;21145461;22879586;21234558;20699637;21357734;21219869;19913121;20544339;20605793;20628086;21109023;21320466;21474444;20660661;20662825;18781376;19215240;19305991;19490267;19495974;19577877;19617705;19654002;19668779;19671703;19690348;19716085;19720020;19726881;19765650;19843919;19859662;19878047;19892732;19926013;19940115;19949665;19955179;19956635;20004623;20062061;20062063;20071715;20108749;20116193;20133899;20140874;20144677;20215044;20226272;20363888;20386770;20400777;20470906;20479154;20507645;20541041;20574821;20097192;20547678;20693282;20712994;20831043;20833965;20851114;20855658;20875080;21063070;21063774;21070882;20947828;21044581;20920651;20931094;20375276;20549940;22508050;20126398;20876384;21055387;19821083;22653970;22876326;19136169;20465523;21170050;21130771;8889548;21048156;21135103;21177251;17192395;21057041;21164565;19157587;19174314;20860824;21185499;22848423;22882672;22905262;23136156;22292854;22460808;22891279;21483829;21463633;21490315;21844197;21525004;21536673;21536683;21496174;21669058;23277474;23300672;22554505;21777565;21315844;21908602;21806934;21832094;21440677;21135701;21376840;21935437;22396785;22727609;12775586;22465688;22517356;22580281;21489024;21573751;21920426;22988594;21680736;22052838;22107967;22242185;16361248;20301308;21996251;22124116;23241319;23603386;8995352;23029143;23139156;22173492;23589291;23571586;23473737;23010577;22161019;23090949;23166209;23471968;22764740;23041462;23133669;23022675;21820442;22613764;23033485;23103500;22964610;22100990;22560601 3757 C4PFH9;G5E9I0;Q12809;Q15BH2;Q708S9 AACC02000108;AB009071;AB044806;ABBA01035170;ABBA01035171;AC006343;AC011234;AF052728;AF363636;AJ010538;AJ512214;AJ609614;AMYH01018141;AMYH01018142;AY380044;AY380045;AY380046;AY380047;AY380048;AY380049;AY380050;AY380051;AY380052;AY380053;AY380054;AY380055;AY380056;BC001914;BC004311;BC127673;BG683210;BM674996;BQ478289;BQ890248;BT007336;CH471173;CS114788;CS114790;CS124199;CS124201;DQ120124;DQ120125;DQ525913;DQ784808;FJ938021;NG_008916;NM_000238;NM_001204798;NM_172056;NM_172057;U04270 AAA62473;AAC69709;AAH01914;AAH04311;AAI27674;AAI67862;AAL37559;AAP36000;AAQ91589;AAQ91590;AAQ91591;AAQ91592;AAQ91593;AAQ91594;AAQ91595;AAQ91596;AAQ91597;AAQ91598;AAQ91599;AAQ91600;AAQ91601;AAS07566;AAS07567;AAZ40507;AAZ40508;ABF71886;ABQ01243;ACR24650;BAA37096;BAB19682;CAA09232;CAD54447;CAE82156;CAJ13411;CAJ13412;CAJ18800;CAJ18801;EAL24491;EAL24492;EAL24493;EAW54071;EAW54072;EAW54073;EAW54074;EAW54075;NP_000229;NP_001191727;NP_742053;NP_742054;Q12809 Hs.647099 1745575;1851927;2155357;2164628;2164630 A006G22;G20789;GDB:624527;LQT2;RH12781 ERG1;HERG;HERG1;Kv11.1;LQT2;SQT1 ERG-1;H-ERG;OTTHUMP00000212821;OTTHUMP00000212824;eag homolog;eag-related protein 1;ether-a-go-go-related gene potassium channel 1;ether-a-go-go-related potassium channel protein;ether-a-go-go-related protein 1;hERG-1;potassium voltage-gated channel subfamily H member 2;voltage-gated potassium channel subunit Kv11.1 APPROVED protein-coding ENSG00000055118 6251 01069 152427;609620;613688 REVIEWED 737542 KCNH6 potassium voltage-gated channel, subfamily H (eag-related), member 6 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q23.3 55988522 56014428 + 58954427 58980070 + 61600695 61626338 + 1580863;6480464 16382104;15489334;14702039;12634931;12477932;10414305;21048031;22412388;15203218;16344560 81033 J3KSC2;J9JID4;Q9H252 AA825356;ABBA01035330;AC113554;AF311913;AK090969;AK091877;AK296498;AK298363;AMYH01008548;BC006334;BE465143;BM561167;CD632730;CH471109;DB147394;DB506421;DB577720;NM_001278919;NM_001278920;NM_030779;NM_173092 AAG40871;AAH06334;ADZ15745;BAC03559;BAC03764;BAG59132;BAG60605;EAW94308;EAW94309;EAW94310;NP_001265848;NP_001265849;NP_110406;NP_775115;Q9H252 Hs.591177 1763577;1796188;5116670 KCNH6_1541;SHGC-147277;sY3122 ERG-2;ERG2;HERG2;Kv11.2;hERG-2 ERG-2;eag related protein 2;eag-related gene member 2;eag-related protein 2;ether-a-go-go related gene potassium channel 2;ether-a-go-go-related gene potassium channel 2;ether-a-go-go-related protein 2;hERG-2;potassium voltage-gated channel subfamily H member 6;voltage-gated potassium channel subunit Kv11.2 APPROVED protein-coding ENSG00000173826 18862 16294 608168 REVIEWED 732298 KCNIP1 Kv channel interacting protein 1 This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 5 5 q35.1 169713459 170096214 + 169780881 170163636 + 1580863;6480464;7204681 20668007 15358149;10676964;19010793;18393943;17057713;16112838;15489334;15184042;14980207;14572458;12829703;12477932;12136098;11423117;11287421;19913121;20628086;19550036;21129448;22779921;11976919;15968430;16260497;18415675;22020049;22612322 30820 E5RJY5;Q3YAD0;Q3YAD1;Q3YAD3;Q9NZI2 ABBA01044091;ABBA01044092;ABBA01044093;ABBA01044094;ABBA01044095;ABBA01044096;ABBA01044097;AC008619;AC008719;AC027306;AC027312;AC034199;AC113432;AC134820;AF199597;AI884645;AJ324960;AK074390;AK301775;AMYH01015802;AY170821;AY780424;BC035032;BC050375;BF514334;CH471062;DC420716;DQ148476;DQ148477;DQ148478;DQ148479;NG_011538;NM_001034837;NM_001034838;NM_001278339;NM_001278340;NM_014592 AAF33682;AAH50375;AAN77491;AAV51968;AAZ77793;AAZ77794;AAZ77795;AAZ77796;BAH13550;EAW61470;EAW61471;NP_001030009;NP_001030010;NP_001265268;NP_001265269;NP_055407;Q9NZI2 Hs.484111 1339130;1713863;1756709;1760407;1763223;1764311;1778426;1780530;1780720;1921298;2217516 D5S1402;KCNMB1_3183;REN31472;RH120081;RH79077;SHGC-142398;SHGC-143803;SHGC-146954;SHGC-147924;bac51040T;bac51805S KCHIP1;MGC95;VABP A-type potassium channel modulatory protein 1;OTTHUMP00000160999;OTTHUMP00000223190;OTTHUMP00000223191;OTTHUMP00000223192;OTTHUMP00000223229;potassium channel interacting protein 1;potassium channel-interacting protein 1;vesicle APC-binding protein APPROVED protein-coding ENSG00000182132 15521 06879 604660 REVIEWED 734096 KCNIP2 Kv channel interacting protein 2 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008] 10 10 q24 103575721 103593667 - 103585731 103603677 - 737786;6480464;7204681 11747815;20668007 11287421;15358149;10676964;18957440;18501111;18393943;16951992;16820361;16381901;16177826;16112838;15578212;15498806;15489336;15489334;15356203;14980201;14702039;14623880;12928444;12829703;12477932;12297301;12135940;11684073;11351020;11263977;11230166;11076863;17353931;15184042;20498229;20649599;20354865;16385451;18585502;19927631;20709747;21422811;19361449 30819 A6NFF4;B3KSZ5;Q9NY10 AB044584;AB044585;ABBA01063186;AC010789;AF199598;AF295076;AF295530;AF347114;AF367018;AF367019;AF367020;AF367021;AJ276317;AK027347;AK055089;AK094668;AK125382;AK130689;AK295324;AK301433;AK309368;AK314536;AK315042;AL136722;AMYH01003010;AMYH01003011;AY026328;AY026329;AY026330;AY026331;AY302141;BC034685;BG911444;CH471066;DQ148480;DQ148481;DQ148482;DQ148483;DQ148484;DQ862463;NG_029836;NM_014591;NM_173191;NM_173192;NM_173193;NM_173194;NM_173195;NM_173197 AAF33683;AAG02120;AAG02121;AAH34685;AAK07674;AAK21972;AAK53707;AAK53708;AAK53709;AAK53710;AAK70356;AAP57633;AAZ77797;AAZ77798;AAZ77799;AAZ77800;AAZ77801;ABI51986;BAA96740;BAA96741;BAB55052;BAG37523;BAG51465;BAG52907;BAG58301;BAG62961;CAB66656;CAB77054;CAL37694;EAW49730;EAW49731;EAW49732;EAW49733;EAW49734;EAW49735;EAW49736;EAW49737;EAW49738;EAW49739;EAW49740;NP_055406;NP_775283;NP_775284;NP_775285;NP_775286;NP_775287;NP_775289;Q9NS61 Hs.97044 1666086;1681574;1683763;2109445;2160774;2182834;2182836 A006D27;Bda26a02;D10S2382;G20725;KCNIP2_887;RH92563;RH93099 DKFZp566L1246;KCHIP2;MGC17241 A-type potassium channel modulatory protein 2;OTTHUMP00000020332;OTTHUMP00000020333;OTTHUMP00000020334;OTTHUMP00000020335;OTTHUMP00000020336;OTTHUMP00000020337;OTTHUMP00000020338;OTTHUMP00000020339;OTTHUMP00000020340;cardiac voltage gated potassium channel modulatory subunit;cardiac voltage-gated potassium channel modulatory subunit;potassium channel interacting protein 2;potassium channel-interacting protein 2 APPROVED protein-coding ENSG00000120049 15522 06880 604661 REVIEWED 733209 KCNIP4 Kv channel interacting protein 4 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 p15.32 20339337 21559472 - 20730239 21950374 - 6480464;7204681 20668007 17353931;19240061;18957440;18519826;18393943;18269347;17981209;16951992;16112838;15815621;15489334;12477932;11847232;11805342;15184042;19910543;20045463;20379614;20670164;20877300;21624954;23576435;21832049;23251661;23382691 80333 A8K4N3;F5H395;Q9BWT2 ABBA01032646;ABBA01032647;ABBA01032648;ABBA01032649;ABBA01032650;ABBA01032651;ABBA01032652;ABBA01032653;ABBA01032654;ABBA01032655;ABBA01032656;ABBA01032657;ABBA01032658;ABBA01032659;ABBA01032660;AC096576;AC097505;AC098597;AC104065;AC107462;AC108147;AC109360;AC109636;AC110296;AC110612;AC113606;AC116641;AF302044;AF305072;AF367023;AF367024;AF453244;AF453246;AK289661;AK289922;AK290998;AK294188;AK314058;AMYH01014047;AMYH01014048;AMYH01014049;AMYH01014050;AMYH01014051;AMYH01014052;AMYH01014053;AMYH01014054;AY029176;AY118170;BC032520;BI596848;BX648990;CH471069;DQ148487;DQ148488;DQ148489;DQ148490;DQ148491;DQ148492;NM_001035003;NM_001035004;NM_025221;NM_147181;NM_147182;NM_147183 AAG36974;AAG36977;AAH32520;AAK31594;AAK53712;AAK53713;AAL86767;AAL86769;AAM81578;AAY40911;AAY40952;AAZ77804;AAZ77805;AAZ77806;AAZ77807;AAZ77808;AAZ77809;ABZ92064;BAF82350;BAF82611;BAF83687;BAG57504;EAW92797;EAW92798;NP_001030175;NP_001030176;NP_079497;NP_671710;NP_671711;NP_671712;Q6PIL6 Hs.655705 1335128;1336897;1337265;1338364;1340624;1340908;1341287;1342060;1342160;1645923;1647631;1648841;1651978;1659876;1664200;1666507;1668220;1668388;1672280;1676178;1677610;1681300;1691212;1696452;1707008;1714661;1715531;1717683;1723977;1728525;1728717;1729214;1732739;1760643;1771387;1772534;1772814;1778875;1788964;1847842;1848083;1849693;1855654;2113758;2114847;2115993;2121380;2128301;2135112;2136442;2137675;2138205;2139785;2142926;2143580;2143594;2150022;2151171;2152979;2153558;2160453;2161098;2162755;2168153;2172400;2177196;2184778;7186448;7187080;7187387;7187591 AB055381;CHLC.GGAT14F06;D4S1533;D4S1546;D4S1562;D4S1593;D4S2312;D4S2353;D4S2511E;D4S2525E;D4S2620;D4S2707;D4S2708;D4S278;D4S2792;D4S2803;D4S2905;D4S2994;D4S3017;D4S3020;D4S323;D4S3349;D4S3356;D4S337;D4S456;D4S503;D4S893;G16780;G20630;G33687;G33915;G33938;G63700;G63730;G65558;GATA70E01;RH118939;RH119995;RH120910;RH122272;RH12353;RH17093;RH92764;RH93232;SHGC-144186;SHGC-17216;SHGC-24104;SHGC-24820;SHGC-30526;SHGC-50148;SHGC-50646;SHGC-51639;SHGC-51650;SHGC-59487;SHGC-59718;SHGC-59731;SHGC-67313;SHGC-67709;SHGC-67835;SHGC-79761;SHGC-81007;SHGC-8260;STS-F04275;STS-H52461;WI-18093;WI-20656;WI-21155 CALP;KCHIP4;MGC44947 Kv channel-interacting protein 4;OTTHUMP00000158705;OTTHUMP00000218115;OTTHUMP00000218116;OTTHUMP00000219282;OTTHUMP00000219283;OTTHUMP00000219284;a-type potassium channel modulatory protein 4;calsenilin-like protein;potassium channel interacting protein 4;potassium channel-interacting protein 4 APPROVED protein-coding ENSG00000185774 30083 12184 608182 REVIEWED 735835 KCNIP3 Kv channel interacting protein 3, calsenilin This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 q21.1 95326799 95415552 + 95963072 96051825 + 1580863;6480464;7204681 20668007 15489334;10078534;10900016;18957440;18664571;18628663;18507845;18393943;18269347;17962406;17102134;16840549;16306395;16189514;16177826;16112838;15815621;15770150;15086516;14720210;14702039;12837631;12829703;12648752;12477932;12451113;12217801;12207970;12198160;12006572;11988022;11792319;11535596;11278424;11259376;11094064;11072133;10676964;9819380;9771752;10854253;15184042;21216226;19299442;19730683;23187802;20211142;21813705;22730276;21070824;21852538;23019329 30818 Q9Y2W7 ABBA01003559;ABBA01003560;ABBA01003561;ABBA01003562;ABBA01003563;AC009238;AF120102;AF199599;AF367022;AJ131730;AK095539;AK315437;AMYH01010687;AMYH01010688;BC012850;BI755669;BT020075;BX491997;CH471219;DQ148485;DQ148486;NM_001034914;NM_013434 AAD20350;AAF33684;AAH12850;AAK53711;AAV38878;AAY14752;AAZ77802;AAZ77803;ABM83004;ABM86197;ABM86242;BAG37825;CAB56835;CAB56836;EAX10723;EAX10724;EAX10725;EAX10726;EAX10727;NP_001030086;NP_038462;Q9Y2W7 Hs.437376 1338755;2167957;2191051;2191189 D2S2159;MARC_13819-13820:1006878275:1;MARC_16025-16026:1017084488:1;RH18424 CSEN;DREAM;KCHIP3;MGC18289 A-type potassium channel modulatory protein 3;DRE-antagonist modulator;OTTHUMP00000160938;OTTHUMP00000207345;calsenilin;calsenilin, presenilin binding protein, ef hand transcription factor;calsenilin, presenilin-binding protein, EF hand transcription factor;kv channel-interacting protein 3;potassium channel interacting protein 3 APPROVED protein-coding ENSG00000115041 15523 05232 604662 REVIEWED 732016 KCNJ1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q24 128213125 128242478 - 128707915 128737268 - 729173;1580799;1580863;6480464;6907045;7240710;7244390 7680431;12589089;21606114 9015377;19349416;19272129;19244242;19170254;18755144;18550644;18443236;18391953;18211905;17401586;17380208;16428287;16382105;15987778;15895241;15489334;7635463;10479680;14604981;12684516;12477932;12381810;12221079;9727001;9099852;9002665;8841184;8621594;8190102;7929082;19913121;20628086;20219833;16543716;19096086;19706464;19710010;20379614;20424473;21081491;21355052;12086641;21631963;16344560 3758 A8K432;P48048 ABBA01023014;AI795925;AK290797;AK308032;AK308033;AK314267;AMYH01004120;AP000920;AP001122;AW611934;BC063109;BC074752;BC136360;BC136361;BE466312;CH471065;DA622270;DA629130;DB199073;NG_009379;NM_000220;NM_153764;NM_153765;NM_153766;NM_153767;S78737;U03884;U12541;U12542;U12543;U12544;U12545;U65406 AAA20594;AAA61712;AAA61713;AAA61714;AAA61715;AAA61716;AAB35012;AAC51220;AAC51221;AAC51222;AAH74752;AAI36361;AAI36362;BAF83486;EAW67721;EAW67722;EAW67723;EAW67724;EAW67725;NP_000211;NP_722448;NP_722449;NP_722450;NP_722451;P48048 Hs.527830 1712873;1732383;1732391;2113554;2143055 D11S1859;D11S1864;D11S4612;KCNJ1_V178;RH120153 KIR1.1;ROMK;ROMK1 ATP-regulated potassium channel ROM-K;ATP-sensitive inward rectifier potassium channel 1;OTTHUMP00000045938;OTTHUMP00000230982;OTTHUMP00000230983;OTTHUMP00000230984;OTTHUMP00000230985;inward rectifier K(+) channel Kir1.1;inwardly rectifying K+ channel;potassium channel, inwardly rectifying subfamily J member 1 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000151704 6255 08981 241200;600359 REVIEWED 69098 KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009] 11 11 p15.1 17363371 17366782 - 17406795 17410878 - 1625277;1580863;1625256;1625279;1598644;1598645;2313628;2311063;2311536;2301911;2311533;2311534;2311535;2313610;2311538;6480464;6484113;6907045;7240710 15998776;15292329;16416420;15964031;15857625;17259403;18940941;19065048;18021373;19502414;19498446;19351728;15565284;18001323 18598350;18597214;18596924;18591388;18566517;18559200;18556340;18544102;18516622;18504616;18498634;18426861;18372903;18335204;18290324;18281290;18243136;18221420;18212765;18162508;18162506;18159846;17994213;17978456;17977958;17965318;17965292;17923772;17922473;17919178;17901525;17898091;17894829;17890419;17855752;17825556;17823772;17720745;17668386;17659066;17652641;17635943;17601994;17570749;17535866;17475937;17463249;17463248;17463246;17446535;17431820;17395632;17380317;17378627;17342155;17327377;17316607;17296510;17259376;17257281;17213273;17192490;17192350;17137217;17065345;17047922;17021801;17020404;16873704;16733889;16732049;16731860;16731833;16670688;16636122;16609879;16595597;16455067;16429405;16382105;16367885;16357843;16339180;16332676;17976307;8923010;15115830;18073297;15583126;19602701;19592620;19491206;19481058;19475716;19380854;19368707;19357197;19336475;19324937;19279076;19264985;19258437;19247372;19225753;19214942;19139842;19139106;19082521;19056611;19033397;19020324;19020323;19002430;18998097;18984664;18972257;18958766;18796522;18767144;18758683;18719881;18710329;18664331;18662362;16320083;16142506;16087682;15983208;15962003;15956217;15930170;15855351;15842514;15838686;15807877;15797964;15784703;15760904;15735229;15718250;15580558;15579791;15579781;15562009;15504982;15489334;15448107;15448106;15111507;15004210;14988278;14871556;14681552;14656703;14642445;14551916;14514649;12934053;12860923;12819904;12540638;12540637;12524280;12477932;12388475;12364426;12356945;12351459;12213829;12199344;12196481;11825905;11424233;11318841;10391210;10338089;10204114;9703328;9144288;9032109;8897013;8549873;7847376;7502040;12941953;11136227;12145195;21352428;21422196;21981029;22573428;22360462;22648966;21418633;19913121;19921246;20550665;20571754;20597906;20616309;20628086;20682687;20802253;21378087;20431170;20595581;10093054;10559219;16902404;18391953;19254908;19345438;19401414;19435956;19578796;19587354;19685080;19692135;19720844;19766903;19794065;19808892;19862325;19876004;20043145;20054294;20075150;20079163;20161779;20164212;20203524;20215779;20361036;20384434;20424228;20437825;20490451;20503258;20540670;18752747;20036918;20540435;20712903;20816152;20863361;20879858;20923526;20929593;20301620;20922570;20401705;20685672;20980454;22591706;22815030;22443257;21710463;22512215;21682153;21544516;21674179;22308858;21820692;21890473;22082043;22768671;21765448;21540348;19805355;22163043;22264780;21573802;21871684;22133355;20301549;22471336;22701567;22704848;23054005 3767 B2RC52;E9PPF1;H0YES9;Q14654 ABBA01061065;AC124798;AI377272;AK301550;AK314943;AMYH01003414;AMYH01003415;BC040617;BC064497;BC112358;BE019467;CH471064;D50582;GU170814;NG_012446;NM_000525;NM_001166290 AAH40617;AAH64497;AAI12359;ACZ56124;BAA09131;BAG37449;BAG63046;EAW68438;NP_000516;NP_001159762;Q14654 Hs.248141 1682463;2108181;2150482;5015961;5022200;5022322;5022588;5024761;5037552;5493479 D11S2560;D15S1477;D5S1597E;D8S2279;KCNJ11_868.2;L18426;RH36905;RH41979;RH80766;UniSTS:486675 BIR;HHF2;IKATP;KIR6.2;MGC133230;PHHI;TNDM3 ATP-sensitive inward rectifier potassium channel 11;OTTHUMP00000231509;OTTHUMP00000231510;beta-cell inward rectifier subunit;inward rectifier K(+) channel Kir6.2;inwardly rectifying potassium channel KIR6.2;potassium channel inwardly rectifing subfamily J member 11;potassium channel, inwardly rectifying subfamily J member 11 APPROVED protein-coding ENSG00000187486 6257 09022 125853;600937;601820;606176;610582 REVIEWED 731912 KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10 This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008] 1 1 q23.2 158274657 158306585 - 160007257 160040051 - 1580863;2326035;6480464;5490120;7240710 20216911;21487926 8995301;19420365;19289823;18391953;18191638;17727731;17122384;16710414;16382105;15911117;15725393;15489334;15120748;12923169;12477932;12456399;12401729;11927671;10659995;10479680;9647694;9367690;9148889;22878665;20621367;20651251;16344560;19426954;19523148;19864112;8889548;17185339;21088294;20933057;21106816;21084311;21221631;21832049;21300747;21748805;17628813;21458570;22055109;20301607;20301640;22412181;15123239;23392672;23270518;22802001;19931615 3766 P78508;Q9BXC5 ABBA01016617;AF344826;AF482710;AK312383;AL121987;AL513302;AMYH01001448;AMYH01001449;BC034036;BC037840;BC131627;BE466069;BM675618;CH471121;DA958759;NG_016411;NM_002241;U52155;U73192;U73193 AAB07046;AAC50923;AAC50924;AAH34036;AAI31628;AAK27517;AAL89708;ABM83318;ABM86533;BAG35301;EAW52748;EAW52749;EAW52750;NP_002232;P78508 Hs.408960 1338824;1670025;1711272;1777767;1797780;2114707;2116682 D1S1167;G31026;KCNJ10_866.2;NIB355;RH47009;RH67793;SHGC-89275 BIRK-10;KCNJ13-PEN;KIR1.2;KIR4.1;SESAME ATP-dependent inwardly rectifying potassium channel Kir4.1;ATP-sensitive inward rectifier potassium channel 10;OTTHUMP00000025748;glial ATP-dependent inwardly rectifying potassium channel KIR4.1;inward rectifier K(+) channel Kir1.2;inward rectifier K+ channel KIR1.2;potassium channel, inwardly rectifying subfamily J member 10 2314798;2314801 GLUCO117_H;GLUCO120_H APPROVED protein-coding ENSG00000177807 6256 03732 600791;602208;612780 REVIEWED 4144939 KCNJ18 potassium inwardly-rectifying channel, subfamily J, member 18 This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013] 7240710 20074522;21209095;21665951;21963094;22910584 100134444 B7U540 ABBA01017896;ABBA01017897;AC233702;AMYH01008269;FJ434338;NG_033093;NM_001194958 ACJ64506;B7U540;NP_001181887 Hs.200629 1796190;2159374 KCNJ12_870;SHGC-11071 KIR2.6;TTPP2 inward rectifier K(+) channel Kir2.6;inward rectifier potassium channel 18;potassium channel, inwardly rectifying subfamily J member 18;potassium inwardly-rectifying channel, subfamily J, member 18;thyrotoxic periodic paralysis susceptibility ion channel APPROVED protein-coding 39080 613236;613239 REVIEWED 1352992 KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008] 17 17 q24.3 65677271 65687780 + 68165676 68176185 + 1581471;1580802;6480464;7240710;7247426;7247428 15936845;12045162;23647964;23543060 21570948;11287423;12923176;7696590;19305409;19234473;19002489;18854645;18690034;18391953;18216177;18182162;18178799;17619200;17582433;17551083;17341397;17324964;17211524;17210839;16895905;16834334;16831831;16777940;16637659;16571646;16541386;16533896;16419128;16407206;16382105;16373386;16258766;15958527;15922306;15831539;15795311;15761194;15618275;15465033;15304517;15084602;15024025;14522976;14500755;12598232;12459783;12163457;12148092;12032359;11809752;11688996;11371347;11287009;11240146;11181181;10627592;10559219;10479680;9533862;9490857;8821791;7840300;7680768;7590287;21376013;22880819;19913121;20628086;20634891;21148745;19608980;19841300;19843922;20195514;20921230;17185339;20676672;20301441;21501591;21281576;22995912;21703452;21493816;21875779;21756874;21559361;22931594;23440193;22308236;22648509;22342860;22399142;22186697;22589293;22863731;12086641;23251661;23284291;23396134 3759 P63252 ABBA01028924;AC005242;AF011904;AF021139;AF153818;AF153819;AF153820;AMYH01008599;CH471099;CS173015;NG_008798;NM_000891;U12507;U16861;U22413;U24055 AAA64282;AAA91781;AAB50277;AAB88797;AAC39555;AAC50072;AAF73241;AAF73242;AAI52812;CAJ33689;EAW89092;NP_000882;P63252 Hs.1547 1676011;1796196;2114114;2152455;5492777 KCNJ2;KCNJ2_1577;RH48445;RH98566;UniSTS:482479 ATFB9;HHBIRK1;HHIRK1;IRK1;KIR2.1;LQT7;SQT3 IRK-1;cardiac inward rectifier potassium channel;hIRK1;inward rectifier K(+) channel Kir2.1;inward rectifier K+ channel KIR2.1;inward rectifier potassium channel 2;potassium channel, inwardly rectifying subfamily J member 2 APPROVED protein-coding ENSG00000123700 6263 02815 170390;600681;609622;613980 REVIEWED 5687827 KCNJ2-AS1 KCNJ2 antisense RNA 1 (head to head) 17 q24.3 68163102 68165543 - 14702039 400617 ABBA01028924;AC005242;AK093963;AMYH01008599;NG_008798;NR_036534 Hs.225661 2152455 RH48445 FLJ36644 APPROVED miscrna ENSG00000267365 43720 VALIDATED 733298 KCNJ12 potassium inwardly-rectifying channel, subfamily J, member 12 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 p11.2 21220292 21263772 + 21279699 21323179 + 1580800;1581471;1580863;6480464 12034888;15936845 7859381;8647284;19016473;18391953;16382105;16373386;16344560;16258766;15958527;15489334;15024025;14960569;14702039;12794312;12598232;12477932;12417321;12032359;11181181;9533018;9430667;9027495;5024025;17185339;20676672;20921230;21281576;20841375;20881960;21963094;23269273 3768 Q14500;Q6L5N3 AB074970;AB181299;AB182123;ABBA01050466;ABBA01050467;ABBA01050468;AC068418;AF005214;AK024229;AMYH01008269;BC027982;BM799671;CH471221;DA115102;L36069;NM_021012;U53143 AAA65122;AAC01951;AAC50615;AAH27982;ADZ15629;BAC02718;BAD22701;BAD23901;EAW49109;NP_066292;Q14500 Hs.200629 1796190;2159374;2160354 KCNJ12_870;RH65630;SHGC-11071 FLJ14167;IRK-2;IRK2;KCNJ18;KCNJN1;Kir2.2;Kir2.2v;hIRK;hIRK1;hkir2.2x;kcnj12x ATP-sensitive inward rectifier potassium channel 12;IRK-2;OTTHUMP00000162917;inward rectifier K(+) channel Kir2.2;inward rectifier K(+) channel Kir2.2v;inward rectifier K(+) channel Kir2.6;potassium channel, inwardly rectifying subfamily J member 12;potassium channel, inwardly rectifying subfamily J member 18;potassium inwardly-rectifying channel, subfamily J, inhibitor 1 APPROVED protein-coding ENSG00000184185 6258 09083 602323 VALIDATED 734216 KCNJ13 potassium inwardly-rectifying channel, subfamily J, member 13 This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] 2 2 q37 233339104 233349519 - 233630512 233641275 - 1580863;6480464;7240710 9738472;19240061;18976636;18391953;18179896;18094146;18035352;16382105;16344560;15557460;15489334;12477932;10455019;9878260;9786970;9620703;22706862;21763485;20301475 3769 C9JWD6;H7C4D1;O60928 ABBA01002007;AC064852;AF061118;AF082182;AJ006128;AJ007557;AK314019;AMYH01011571;AY758240;AY758241;BC037290;CB410257;CH471063;DA278958;DB173405;DB547266;DN993097;NG_011847;NG_016742;NM_001172416;NM_001172417;NM_002242 AAC15769;AAD08673;AAH37290;AAX08098;AAX08099;AAX93190;ABM82650;ABM85827;BAG36730;CAA06878;CAA07552;EAW71019;NP_001165887;NP_001165888;NP_002233;O60928 Hs.467338 1340264;1681382;1685423;2108183 D2S172;KCNJ13_7654;RH94056;RH94296 KIR1.4;KIR7.1;LCA16;MGC33328;SVD OTTHUMP00000164358;OTTHUMP00000203613;OTTHUMP00000203614;OTTHUMP00000203615;OTTHUMP00000203616;inward rectifier K(+) channel Kir7.1;inward rectifier potassium channel 13 APPROVED protein-coding ENSG00000115474 6259 04441 193230;603208;614186 REVIEWED 1343172 KCNJ16 potassium inwardly-rectifying channel, subfamily J, member 16 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may be involved in the regulation of fluid and pH balance. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012] 17 17 17 q24.3 64643318 64703632 + 65583021 65643344 + 68071366 68131749 + 1580863;6480464 16344560;19240061;19234473;18391953;16382105;12923169;12477932;12456399;11988170;11306656;11240146;11060447;9882736;8125298;20379614;17185339;20881960;22863731;23362303 3773 A8K434;K7EJR9;K7EKJ4;K7ELL5;K7EPW9;Q9NPI9 ABBA01028925;ABBA01028926;ABBA01028927;AC005208;AF153814;AF153815;AF153816;AF153817;AF179353;AK225944;AK290799;AMYH01008598;BC030961;BC033038;CH471099;DA071381;DA627411;DA628604;NM_001270422;NM_018658;NM_170741 AAF73238;AAF73239;AAF73240;AAF73244;AAG09401;AAH33038;ABM83397;BAF83488;EAW89090;EAW89091;NP_001257351;NP_061128;NP_733937;Q9NPI9 Hs.463985 1651541;1796194 KCNJ16_878;RH46249 BIR9;KIR5.1;MGC33717 inward rectifier K(+) channel Kir5.1;inward rectifier K+ channel KIR5.1;inward rectifier potassium channel 16;potassium channel, inwardly rectifying subfamily J member 16 APPROVED protein-coding ENSG00000153822 6262 16146 605722 REVIEWED 6481042 KCNJ6-IT1 KCNJ6 intronic transcript 1 (non-protein coding) 100874329 AP001430 miscrna 41352 735432 KCNJ14 potassium inwardly-rectifying channel, subfamily J, member 14 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013] 19 19 19 q13 45824005 45834608 + 53650578 53661179 + 48958766 48969367 + 633149;1580863;1581471;6480464 9592090;15936845 18391953;17347781;16382105;15958527;15489334;12477932;11853319;10942728;10723734;8889548;20424473 3770 Q9UNX9 ABBA01032990;AC008403;AF081466;AF181988;AMYH01009902;BC032682;BC035918;BC042033;BM710116;BU739644;CH471177;NM_013348;NM_170720 AAD51376;AAF97619;AAH35918;EAW52348;NP_037480;NP_733838;Q9UNX9 Hs.590945;Hs.736972 1749995;1796192;2132522 KCNJ14_874;RH12000;SHGC-111700 IRK4;KIAA1942;KIR2.4;MGC46111 ATP-sensitive inward rectifier potassium channel 14;IRK-4;inward rectifier K(+) channel Kir2.4;inwardly rectifying potassium channel KIR2.4;potassium channel, inwardly rectifying subfamily J member 14 APPROVED protein-coding ENSG00000182324 6260 04901 603953 REVIEWED 731050 KCNJ15 potassium inwardly-rectifying channel, subfamily J, member 15 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013] 21 21 q22.2 38550534 38595618 + 39628664 39673748 + 1580863;6480464 8995301;18029348;19420109;18391953;17122384;16382105;15489334;15068243;12477932;11927671;11804844;11306656;10830953;10479680;9882736;9647694;9299242;9037601;20085713;17185339;16344560;22566534 3772 A8MTZ5;A8MVK1;C9J0W5;C9JTX1;E7EPG3;E7EWV2;F8VW46;F8VX74;Q99712 ABBA01011097;AI344546;AI453386;AJ012369;AK292812;AMYH01012239;AP001422;AP001434;AP001438;BC013327;BI832561;CH471079;D87291;DA632853;DA670230;DA673158;DA675388;DA968871;DB008463;DB232867;NM_001276435;NM_001276436;NM_001276437;NM_001276438;NM_001276439;NM_002243;NM_170736;NM_170737;U73191;Y10745;Y13895;Y13896 AAC50922;AAH13327;ABM87860;BAA13326;BAF85501;CAA71734;EAX09683;EAX09684;EAX09685;NP_001263364;NP_001263365;NP_001263366;NP_001263367;NP_001263368;NP_002234;NP_733932;NP_733933;Q99712 Hs.411299 1686650;1791163;1797782;2115229;2128305 KCNJ15_876.2;Kcnj15;RH70471;RH75919;SHGC-17366 IRKK;KIR1.3;KIR4.2;MGC13584 ATP-sensitive inward rectifier potassium channel 15;OTTHUMP00000115737;OTTHUMP00000115738;OTTHUMP00000115740;OTTHUMP00000115741;OTTHUMP00000115742;OTTHUMP00000115743;OTTHUMP00000115744;OTTHUMP00000115745;OTTHUMP00000115746;OTTHUMP00000115747;inward rectifier K(+) channel Kir1.3;inward rectifier K(+) channel Kir4.2;inward rectifier K+ channel KIR4.2;potassium channel, inwardly rectifying subfamily J member 15 APPROVED protein-coding ENSG00000157551 6261 03659 602106 REVIEWED 1343442 KCNJ9 potassium inwardly-rectifying channel, subfamily J, member 9 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] 1 1 q23.2 158317984 158325836 + 160051360 160059212 + 1580863;6480464 18391953;17727731;16710414;16382105;16109170;15911117;12297500;11350189;10956667;10913335;10659995;10341034;8575783;19995671;20610389;17185339;21637918 3765 Q92806 ABBA01016617;AF193615;AL121987;AMYH01001449;AMYH01001450;CH471121;NM_004983;U52152 AAB07043;AAF89098;AAI67777;EAW52747;NP_004974;Q92806 Hs.66726 1651797;1797786;2125721 D1S278E;KCNJ9_2427;RH64482 GIRK3;KIR3.3 G protein-activated inward rectifier potassium channel 3;G protein-coupled inward rectifier potassium channel;GIRK-3;OTTHUMP00000025747;inward rectifier K(+) channel Kir3.3;inwardly rectifier K+ channel KIR3.3;potassium channel, inwardly rectifying subfamily J member 9 2314798;2314801;2315765;2315816;2316338 GLUCO117_H;GLUCO120_H;GLUCO149_H;GLUCO177_H;GLUCO223_H APPROVED protein-coding 6270 02959 600932 REVIEWED 733789 KCNJ3 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012] 2 2 q24.1 155263339 155421260 + 155555093 155714864 + 1580863;6480464;6907045 8804710;12297500;19151997;19135528;18498071;18391953;16382105;16109170;15489334;15142872;12743112;12477932;12458027;12034888;11741896;10889209;9891030;9765280;9119365;9108307;9023358;8929423;8868049;8088798;21420934;20512921;20110696;20468064;17185339;21044958;11345517;18097938;21927946;19917775;23175530;23219908 3760 D2X9V0;D2XBF0;P48549 ABBA01004817;ABBA01004818;ABBA01004819;AC061961;AC093633;AC107060;AK026384;AK293824;AK293924;AMYH01011186;AW949825;BC022495;CH471058;GU068048;GU074515;GU074516;NM_001260508;NM_001260509;NM_001260510;NM_002239;U50964 AAB42176;AAH22495;AAX93197;ABM83289;ABM86498;ADB11081;ADB11082;ADB11083;BAG57228;BAG57305;EAX11461;NP_001247437;NP_001247438;NP_001247439;NP_002230;P48549 Hs.591606 1654889;1660566;1739769;1739777;1743905;1752197;1796198;2155682;5015619;5022450;5037552 D10S275;D11S3114;D2S2105E;D2S2106E;D8S2279;GDB:375307;KCNJ3_340;RH70622;SGC31664;SHGC-106069;SHGC-31309 FLJ22731;GIRK1;KGA;KIR3.1 G protein-activated inward rectifier potassium channel 1;GIRK-1;OTTHUMP00000162768;inward rectifier K(+) channel Kir3.1;inward rectifier K+ channel KIR3.1;potassium channel, inwardly rectifying subfamily J member 3;potassium inwardly-rectifying channel subfamily J member 3 splice variant 1e 2314777;2314985 GLUCO106_H;INSUL32_H APPROVED protein-coding ENSG00000162989 6264 03323 601534 REVIEWED 733316 KCNJ4 potassium inwardly-rectifying channel, subfamily J, member 4 Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.1 37152278 37181149 - 38822332 38851205 - 1580863;1581471;6480464 15936845 11742811;11713246;11306688;11181181;10627592;10591208;10479680;10206975;8943291;8893032;8034048;7607694;14960569;15024025;8016146;8051145;18503768;18453743;18391953;18180291;16382105;16373386;16258766;15958527;15489334;15461802;12477932;12032359;11997254;19635485;20424473;16855024;17185339;22396414 3761 P48050;Q58F07 ABBA01055519;AMYH01012763;BC032562;BC039618;BC113506;BC113508;BM475496;CH471095;CR456507;NM_004981;NM_152868;S72503;U07364;U24056;Z97056 AAA19962;AAA66076;AAC60632;AAH32562;AAI13507;AAI13509;CAG30393;CAK54537;CAK54836;EAW60235;EAW60236;NP_004972;NP_690607;P48050 Hs.32505 1683219;1745747;1797784;2125629;5117985 GDB:633469;GDB:633533;KCNJ4_1786;RH70543;RH78616 HIR;HIRK2;HRK1;IRK-3;IRK3;Kir2.3;MGC142066;MGC142068 OTTHUMP00000199208;hippocampal inward rectifier potassium channel;inward rectifier K(+) channel Kir2.3;inward rectifier K+ channel Kir2.3;inward rectifier potassium channel 4;potassium channel, inwardly rectifying subfamily J member 4 APPROVED protein-coding ENSG00000168135 6265 02738 600504 REVIEWED 1349904 KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] 11 11 q24 128266523 128293174 + 128761313 128787964 + 1580863;1581701;6480464;7240710 11693772 8834003;18391953;18289755;18239147;17967416;16382105;16109170;15694835;15489334;15142872;12477932;12297500;11879649;11741896;10659995;9765280;9642257;9245502;9891030;9169438;9108307;8868049;8558261;7590741;22315453;22442279;22798349;19135528;19208499;19805912;20110696;20560207;17185339;17207965;21311022;23012392;22645387;22863749;21659651;21586291;21637918;22743686;21555883;22203740;22252394;22275527;22308486;22278422;23225057;20301308;22323562;22628607;22628608;22848660;22701748 3762 P48544 AB690268;ABBA01023015;AK312837;AMYH01004121;AMYH01004122;AP000920;BC069386;BC069482;BC069499;BC069571;BC074838;BC074839;BC096834;CH471065;D50134;JN859132;JN859133;L47208;NG_023406;NM_000890;U39195;X83582 AAB07269;AAB53093;AAH69386;AAH69482;AAH69499;AAH69571;AAH74838;AAH74839;AAH96834;ADQ31914;AFB82769;AFB82770;BAA08814;BAG35691;BAL72885;CAA58565;EAW67726;EAW67727;NP_000881;P48544 Hs.632109 1341470;1656456;1766951;2131689;2181238;5022200;5022588;5022651;5037552 D11S2921;D11S4150;D5S1597E;D8S2279;KCNJ5;L18426;RH18049;RH79150;SHGC-152477 CIR;GIRK4;KATP1;KIR3.4;LQT13 G protein-activated inward rectifier potassium channel 4;G protein-activated inward rectifier potassium channel 4 (GIRK4) (Potassium channel, inwardly rectifying, subfamily J, member 5) (Inward rectifier K+ channel Kir3.4) (Heart KATP channel) (KATP-1) (Cardiac inward rectifier) (CIR)...;GIRK-4;IRK-4;KATP-1;OTTHUMP00000230987;OTTHUMP00000230988;cardiac ATP-sensitive potassium channel;cardiac inward rectifier;heart KATP channel;inward rectifier K(+) channel Kir3.4;inward rectifier K+ channel KIR3.4;potassium channel, inwardly rectifying subfamily J member 5 APPROVED protein-coding 6266 09010 600734;613485;613677 REVIEWED 1313992 KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008] 21 21 q22.1 37918655 38210566 - 38996778 39288741 - 1580863;6480464;6483053;6483055;6483052 21307845;20220551;22178330 7550338;7796919;16780588;18391953;18303085;17135278;16382105;16109170;15772902;15489334;15142872;15068243;14724209;12743112;12477932;12458027;12297500;12034888;10956667;10830953;10659995;10619846;10562331;9503011;9108307;9037601;9023358;8929423;7926018;7729621;7592809;20655490;19135528;19567891;19756153;20379614;20424473;20943350;15218035;17185339;21637918;20494980;23739333;22554406;22252428;23175530 3763 P48051 ABBA01000218;ABBA01000219;ABBA01000220;ABBA01000221;AJ001894;AK313997;AMYH01012238;AP001407;AP001408;AP001411;AP001416;AP001424;AP001427;AP001430;AP001433;AP001436;AW015013;BC101547;BF110130;CH471079;D87327;DR000377;NG_029892;NM_002240;S78685;U24660 AAB34738;AAC50258;AAI01548;BAA13331;BAG36709;EAX09692;NP_002231;P48051 Hs.626242;Hs.658533;Hs.741904 1298173;1337447;1667357;1688237;1724075;1729037;1729782;1730678;1759827;1769811;1790637;1796200;2116788;2118996;2118998;2127113;2139810;2145517;2147995;2149213;2149215;2149611;2149706;2150276;2151406;2154308;2158236;2158783;2174775;2179048;2185190;2185462;2185999 A006A13;D21S1238;D21S1425;D21S1439;D21S1440;D21S233;D21S337;G02353;G20645;G29043;G29044;G29045;G34635;G34693;KCNJ6_880;RH119817;RH18020;RH78100;RH92677;SHGC-10462;SHGC-10469;SHGC-10474;SHGC-10477;SHGC-170067;SHGC-35670;SHGC-51806;SHGC-51857;SHGC-52126;SHGC-52138;SHGC-87628;SHGC-8849;STS_CEB268;UniSTS:143667 BIR1;GIRK-2;GIRK2;KATP-2;KATP2;KCNJ7;KIR3.2;MGC126596;hiGIRK2 G protein-activated inward rectifier potassium channel 2;OTTHUMP00000109101;inward rectifier K(+) channel Kir3.2;inward rectifier potassium channel KIR3.2;potassium channel, inwardly rectifying subfamily J member 6 APPROVED protein-coding ENSG00000157542 6267 02929 600877 VALIDATED 732934 KCNK10 potassium channel, subfamily K, member 10 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] 14 14 14 q31.3 68692135 68838993 - 87720993 87863004 - 88646452 88793256 - 6480464 10880510;18516069;17689202;16382106;12477932;11897838;11256078;10747911;9110174;8619474;21669980;21890473 54207 G3V5Y5;P57789 ABBA01030532;ABBA01030533;AF279890;AF385399;AF385400;AI693366;AK125389;AK290518;AK313499;AK315263;AL049834;AL133279;AMYH01005932;AMYH01005933;BC075021;BC075022;CH471061;EU978938;EU978939;EU978940;EU978941;NM_021161;NM_138317;NM_138318;U79244 AAG15191;AAH75021;AAH75022;AAL95705;AAL95706;ACH86097;ACH86098;ACH86099;ACH86100;BAF83207;BAG36281;BAG37680;EAW81373;EAW81374;EAW81375;NP_066984;NP_612190;NP_612191;P57789 Hs.560255 1340378;1663128;1736420;1759273;2125757;2128623;2144196;2146895;2149842;2161644;2166338;5023733 AU048745;D14S1058;D14S1253;D14S678E;G35373;G35500;G35889;GDB:313931;SHGC-150900;STS-R38357;WI-20495;Z94611 FLJ43399;K2p10.1;TREK-2;TREK2 2P domain potassium channel TREK2;OTTHUMP00000244287;OTTHUMP00000244288;OTTHUMP00000244289;TREK-2 K(+) channel subunit;TWIK-related K+ channel 2;outward rectifying potassium channel protein TREK-2;potassium channel subfamily K member 10 APPROVED protein-coding 6273 12061 605873 REVIEWED 731904 KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012] 12 12 p11.23 21809156 21819014 - 21917889 21927755 - 1581700;1580863;1581599;1581698;1581699;1581697;1598645;1598652;729109;6480464 11984590;16436388;16051697;12964027;10708603;15857625;9399952;12234964 7890693;19139106;18996111;18663158;18391953;17081983;16964409;16820413;16382105;15821440;15489334;12934053;12738227;12477932;12356945;12217870;11956191;11825905;11160857;11136227;11007308;10559219;10516647;9573340;9434770;8595887;20558321;19952277;19959479;20847183;22056721;22972803;20624795;21418633;21836131;22406554;22410194;22562657 3764 F5GY12;Q15842 ABBA01067973;AC010185;AK291821;AL546327;AMYH01004320;BC000544;BQ003792;BQ009215;CH471094;D50312;D50315;NM_004982 AAH00544;ABM82839;ABM86023;BAA08851;BAA08852;BAF84510;EAW96450;EAW96451;NP_004973;Q15842 Hs.102308;Hs.619408;Hs.741642 1679171;1688402;2113556 KCNJ8_V182;RH80763;RH92325 KIR6.1;uKATP-1 ATP-sensitive inward rectifier potassium channel 8;OTTHUMP00000240074;inward rectifier K(+) channel Kir6.1;inwardly rectifying potassium channel KIR6.1;potassium channel, inwardly rectifying subfamily J member 8 APPROVED protein-coding ENSG00000121361 6269 02962 600935 REVIEWED 1346775 KCNK18 potassium channel, subfamily K, member 18 Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011] 10 10 q25.3 118946990 118959800 + 118957000 118969810 + 1580863;6480464;7240710 18506476;18397886;16382106;15761153;15123670;14981085;12754259;22115960;20871611;16385451;20006580;20379614;16569637;20215114;23541583;21855646 338567 Q7Z418 AB087138;ABBA01062947;AL731557;AMYH01003101;NG_028085;NM_181840 AAI48338;AAI52980;BAC78527;NP_862823;Q7Z418 Hs.449650 1782210;2113078 D10S2446;SHGC-172075 K2p18.1;MGR13;TRESK;TRESK-2;TRESK2;TRIK OTTHUMP00000020575;TWIK related spinal cord K+ channel;TWIK-related individual K+ channel;TWIK-related individual potassium channel;TWIK-related spinal cord K+ channel;TWIK-related spinal cord potassium channel;potassium channel subfamily K member 18 APPROVED protein-coding ENSG00000186795 19439 17173 613655;613656 REVIEWED 1345243 KCNK15 potassium channel, subfamily K, member 15 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40083151 40088331 + 42807902 42813082 + 43374488 43380954 + 1580863;6480464 11409881;11749039;17081983;16382106;12477932;11780052;11680614;11431495;12433946;23251661 60598 Q9H427 ABBA01052652;AF257081;AF294350;AF294351;AF294352;AF336342;AL118522;AMYH01011934;BC082981;BC093874;BC143282;CH471077;NM_022358 AAG33127;AAH93874;AAI43283;AAK37518;AAK97091;AAK97092;AAK97093;EAW75900;NP_071753;Q9H427 Hs.528664 1772184;2172411 A002B08;D20S1038 K2p15.1;KCNK11;KCNK14;KIAA0237;KT3.3;TASK-5;TASK5;dJ781B1.1 OTTHUMP00000031072;TWIK-related acid-sensitive K(+) channel 5;acid-sensitive potassium channel protein TASK-5;potassium channel subfamily K member 15;potassium channel, subfamily K, member 14;two pore K(+) channel KT3.3;two pore potassium channel KT3.3 APPROVED protein-coding 13814 09564 607368 REVIEWED 68984 KCNK12 potassium channel, subfamily K, member 12 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] 2 2 2 p16.3 47586584 47636146 - 47601418 47650974 - 47747914 47797470 - 67928;1580863;6480464 11060316 18676988;18209473;17081983;15489334;12477932;11263999;11256078;19890347 56660 Q9HB15 ABBA01075166;ABBA01075167;AC138655;AF287302;AMYH01010326;BC047749;CH471053;NM_022055 AAG32313;AAH47749;EAX00212;NP_071338;Q9HB15 Hs.591586 1681310;1699856;2114062;2127718 AB060260;D2S2495;RH103535;RH79726 K2p12.1;THIK-2;THIK2 OTTHUMP00000159399;potassium channel subfamily K member 12;tandem pore domain halothane-inhibited potassium channel 2;tandem pore domain potassium channel THIK-2 APPROVED protein-coding 6274 09562 607366 REVIEWED 731790 KCNK1 potassium channel, subfamily K, member 1 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008] 1 1 q42-q43 231816373 231874607 + 233749750 233808258 + 1580863;2316516;6480464 17884299 8605869;19571146;16382106;15820677;15489334;14702039;12855359;12477932;11256078;11165377;11053038;9832487;9462864;9362344;8978667;8661042;21653227;19948975;19959478;21441570;21964404;21987572;21139048;21906983;22282804;19322201;21963094;21988832;22699663 3775 O00180;Q5T5E6;Q5T5E7 ABBA01033079;ABBA01033080;AK090902;AK314016;AL356357;AMYH01001830;BC018051;BQ022191;CH471098;NM_002245;U33632;U76996;U90065 AAB01688;AAB51147;AAB97878;AAH18051;ABM83309;ABM86521;BAG36727;EAW69989;EAW69990;NP_002236;O00180 Hs.208544 1667349;1672601;1705462;1710860;1796204;1852377;2124772;2133372;2162595 A006F14;G29241;KCNK1_344;RH64590;SHGC-76563;SHGC-83816;SHGC-84204;STS-T89472;WI-20654 DPK;HOHO;K2P1;K2p1.1;KCNO1;TWIK-1;TWIK1 OTTHUMP00000036029;inward rectifying potassium channel protein TWIK-1;potassium channel KCNO1;potassium channel subfamily K member 1;potassium inwardly-rectifying channel, subfamily K, member 1 APPROVED protein-coding ENSG00000135750 6272 03447 601745 REVIEWED 68985 KCNK13 potassium channel, subfamily K, member 13 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013] 14 14 14 q32.11 70575304 70699365 + 89597861 89721948 + 90528108 90652195 + 67928;1580863;6480464 11060316 18516069;18209473;16683720;16382106;15489334;12477932;11256078;20400778;20379614 56659 B5TJL8;Q9HB14 ABBA01030506;ABBA01030507;ABBA01030508;ABBA01030509;AF287303;AL137128;AL355074;AMYH01005943;AW117567;BC012779;CH471061;EU978942;NM_022054 AAG32314;AAH12779;ABM84033;ABM87379;ACH86101;EAW81417;NP_071337;Q9HB14 Hs.510191 1649637;1701024;1710942;1760625;1796202;2158255;2163800 D14S922;D14S961;G35936;KCNK13_1417;RH104139;SHGC-144169;SHGC-84444 K2p13.1;THIK-1;THIK1 K2P13.1 potassium channel;OTTHUMP00000244895;potassium channel subfamily K member 13;tandem pore domain halothane-inhibited potassium channel 1;tandem pore domain potassium channel THIK-1 APPROVED protein-coding ENSG00000152315 6275 09563 607367 REVIEWED 1319410 KCNK16 potassium channel, subfamily K, member 16 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008] 6 6 6 p21.2-p21.1 40835738 40843594 - 39390460 39398294 - 39282474 39290330 - 1580863;6480464 11263999;12724142;18516069;16382106;14574404;12477932;11256078;22158537 83795 D6RC57;Q96T55 ABBA01038311;AF358909;AL136087;AMYH01016288;AY253145;AY253146;AY253147;BC111860;BP387644;CA843225;CH471081;EU978943;FB764117;NM_001135105;NM_001135106;NM_001135107;NM_032115 AAI11861;AAK49532;AAP82866;AAP82867;AAP82868;ACH86102;CAV30657;EAX03982;EAX03983;EAX03984;EAX03985;NP_001128577;NP_001128578;NP_001128579;NP_115491;Q96T55 Hs.287765 K2p16.1;MGC133123;TALK-1;TALK1 2P domain potassium channel Talk-1;OTTHUMP00000016345;OTTHUMP00000223325;OTTHUMP00000223326;OTTHUMP00000223327;OTTHUMP00000223328;TWIK-related alkaline pH-activated K(+) channel 1;pancreatic potassium channel Talk-1;potassium channel subfamily K member 16 APPROVED protein-coding ENSG00000095981 14464 09565 607369 REVIEWED 1345497 KCNK3 potassium channel, subfamily K, member 3 This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008] 2 2 p23 26769123 26806222 + 26915581 26954066 + 1580863;2316516;2316522;6480464 17884299;18671295 9312005;18824070;18678320;18375952;17945357;16574908;16382106;15695101;15197476;15099524;12837685;12437930;12198146;12003807;11907168;11886861;11803450;11680614;11256078;10748056;10575216;10321245;9721223;15099514;22893713;20049674;12433946;12477932;16420525;19188660;19657056;20931182;21357689;21362619;21710317;23772394;23883380;21540350;22178873;21838752;23229553;20012522;23164059 3777 B9EIJ4;O14649 ABBA01045187;AC015977;AF006823;AF065163;AMYH01010193;BC140701;CH471053;NM_002246 AAC51777;AAG29340;AAI40702;AAY24312;EAX00678;EAX00679;NP_002237;O14649 Hs.645288 1337159;1697264;1792766;1796206 DXS8011;KCNK3_888;PMC16288P2;RH102127 K2p3.1;OAT1;PPH4;TASK;TASK-1;TBAK1 OTTHUMP00000155190;TWIK-related acid-sensitive K(+) channel 1;TWIK-related acid-sensitive K+ channel;acid-sensitive potassium channel protein TASK;acid-sensitive potassium channel protein TASK-1;cardiac potassium channel;potassium channel subfamily K member 3;potassium inwardly-rectifying channel, subfamily K, member 3;two P domain potassium channel;two pore K(+) channel KT3.1;two pore potassium channel KT3.1 APPROVED protein-coding 6278 04451 603220;615344 REVIEWED 1354126 KCNK2 potassium channel, subfamily K, member 2 This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q41 213245508 213477059 + 215178885 215410436 + 1580863;6480464 19130888;18854423;18676988;18579077;18579071;18519826;18474599;18288090;17375039;17035301;16382106;16344560;16250016;16006563;15883010;15685212;15203218;14522822;12878157;12477932;12368289;11319556;11319549;11256078;10784345;10321245;9721223;9003761;22811574;19913121;20628086;19621370;19741570;19837167;19948975;20083228;20362547;20379614;22563662;20811500;21262820;21069514;21822218;21965685;21886777;21964404;23275623 3776 B4DGU6;C9JDK1;C9JXY2;F8WDE6;Q6ZW95;Q9NRT2 ABBA01048133;ABBA01048134;ABBA01048135;ABBA01048136;ABBA01048137;ABBA01048138;AC092804;AC099675;AF004711;AF129399;AF171068;AK123409;AK291483;AK294780;AK315249;AL583830;AMYH01001723;AMYH01001724;AMYH01001725;AMYH01001726;AU280191;AY552980;AY552981;BC069462;BC101693;BC101695;BC143586;CD625291;CD625297;CD625301;CH471100;DA475072;DR001358;EF165334;EF165335;NM_001017424;NM_001017425;NM_014217 AAD01203;AAD47569;AAF89743;AAH69462;AAI01694;AAI01696;AAI43587;AAT49015;AAT49016;ABM47413;ABM47414;BAC85609;BAF84172;BAG37671;BAG57907;EAW93347;EAW93348;EAW93349;NP_001017424;NP_001017425;NP_055032;O95069 Hs.497745 1342325;1655417;1662325;1692560;1693000;2110475;2126397;2139980;2149850;2153895 AL010056;AL033927;AL034226;D1S1602;D1S1666;D1S2141;D1S2475;KCNK2_2527;SHGC-76351;WI-15954 K2p2.1;MGC126742;MGC126744;TPKC1;TREK;TREK-1;TREK1;hTREK-1c;hTREK-1e K2P2.1 potassium channel;OTTHUMP00000035062;OTTHUMP00000035063;OTTHUMP00000216605;OTTHUMP00000216607;OTTHUMP00000216609;TREK-1 K(+) channel subunit;TWIK-related potassium channel 1;outward rectifying potassium channel protein TREK-1;potassium channel subfamily K member 2;potassium inwardly-rectifying channel, subfamily K, member 2;tandem-pore-domain potassium channel TREK-1;two pore domain potassium channel TREK-1;two pore potassium channel TPKC1;two-pore potassium channel 1 APPROVED protein-coding ENSG00000082482 6277 603219 REVIEWED 1349439 KCNK17 potassium channel, subfamily K, member 17 The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 6 6 6 p21.1 40820048 40835501 - 39374755 39390214 - 39266777 39282237 - 1580863;6480464 11248242;18516069;16382106;14574404;12975309;12477932;11263999;15489334;15342556;19647252;19910543;21103663;23391755;22158537 89822 Q96T54 ABBA01038310;ABBA01038311;AF339912;AF358910;AK310582;AK315273;AL136087;AMYH01016288;AY358853;BC025726;BP317866;CH471081;EU978944;NM_001135111;NM_031460 AAH25726;AAK28551;AAK49533;AAQ89212;ABM82638;ABM85815;ACH86103;BAG37686;EAX03981;NP_001128583;NP_113648;Q96T54 Hs.162282 K2p17.1;TALK-2;TALK2;TASK-4;TASK4 2P domain potassium channel Talk-2;OTTHUMP00000016346;OTTHUMP00000223189;TWIK-related acid-sensitive K(+) channel 4;TWIK-related alkaline pH-activated K(+) channel 2;acid-sensitive potassium channel protein TASK-4;potassium channel subfamily K member 17 APPROVED protein-coding ENSG00000124780 14465 09566 607370 REVIEWED 1604643 KCNK7 potassium channel, subfamily K, member 7 This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 62687036 62690177 - 65116902 65120043 - 65360326 65363467 - 6480464 10206991;16382106;12477932;11256078;11165377 10089 H0YCM4;H0YEB9;Q9Y2U2 ABBA01024108;AF110522;AF110523;AF110524;AMYH01003723;AP001362;BC103809;BC103810;BC103811;CH471076;NM_005714;NM_033347;NM_033348;NM_033455 AAD29578;AAD29579;AAD29580;AAI03810;AAI03811;AAI03812;EAW74411;EAW74412;EAW74413;EAW74414;EAW74415;EAW74416;NP_005705;NP_203133;NP_203134;NP_258416;Q9Y2U2 Hs.175218 1767242;1796208;2190365 D17S2241;KCNK7_346;STS-R80779 K2p7.1;MGC118782;MGC118784;TWIK3 OTTHUMP00000233242;OTTHUMP00000233243;OTTHUMP00000233244;OTTHUMP00000233245;potassium channel subfamily K member 7;potassium channel, subfamily K, member 7, isoform B;two pore domain K+ channel APPROVED protein-coding ENSG00000173338 6282 06804 603940 REVIEWED 733987 KCNK4 potassium channel, subfamily K, member 4 Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The encoded protein homodimerizes and functions as an outwardly rectifying channel. It is expressed primarily in neural tissues and is stimulated by membrane stretch and polyunsaturated fatty acids. [provided by RefSeq, Jul 2008] 11 11 q13 63815369 63824079 + 64058793 64067503 + 1580863;6480464 10767409;18516069;16382106;16381901;16344560;15489336;14996553;14759258;12477932;12191490;11256614;11256078;11230166;11172753;11076863;11042359;22837380;20811500;19913121;20628086;22282805;21988832;23341632 50801 F5GYE0;F5GZ20;Q2YDA1;Q9NYG8 ABBA01003296;AF248242;AF259500;AK296021;AK309443;AMYH01003704;AMYH01003705;AP001453;BC033577;BC067791;BC110327;CH471076;DB273064;EU978935;NM_033310 AAG31731;AAI10328;AAI60128;AAK49389;ACH86094;BAG58791;EAW74242;EAW74243;NP_201567;Q9NYG8 Hs.647233 1689931 RH98400 K2p4.1;TRAAK;TRAAK1 K2P4.1 potassium channel;OTTHUMP00000236952;OTTHUMP00000236953;OTTHUMP00000236955;OTTHUMP00000236956;TWIK-related arachidonic acid-stimulated potassium channel protein;potassium channel subfamily K member 4;potassium inwardly-rectifying channel, subfamily k, member 4;two pore K(+) channel KT4.1;two pore K+ channel KT4.1;two pore potassium channel KT4.1 APPROVED protein-coding ENSG00000182450 6279 12037 605720 REVIEWED 735903 KCNK6 potassium channel, subfamily K, member 6 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008] 19 19 q13.1 43502322 43511494 + 38810484 38819654 + 1580863;6480464 8125298;10075682;18516069;16382106;15489334;14702039;14689445;12477932;11256078;10887187;10393428;10359073;10206991;1088718;20029952;21964404;22944692 9424 B2RDS2;Q9Y257 A94721;ABBA01040679;AC026806;AF117708;AF134149;AF281302;AF281303;AJ297404;AJ297405;AK022344;AK222545;AK315653;AMYH01009780;BC004367;CH471126;EU978937;NM_004823 AAD22980;AAD24000;AAG10506;AAG10507;AAH04367;ABM84348;ABM87739;ACH86096;BAD96265;BAG38019;CAB70443;CAC15489;EAW56776;NP_004814;Q9Y257 Hs.240395 FLJ12282;K2p6.1;KCNK8;TOSS;TWIK-2;TWIK2 K2P6.1 potassium channel;TWIK-originated similarity sequence;TWIK-originated sodium similarity sequence;inward rectifying potassium channel protein TWIK-2;potassium channel subfamily K member 6;potassium channel, subfamily k, member 6 (twik-2) APPROVED protein-coding ENSG00000099337 6281 06803 603939 REVIEWED 1347636 KCNMB3P1 potassium large conductance calcium-activated channel, subfamily M, beta member 3 pseudogene 1 22 22 22 q11 683616 685957 - 15441456 15443795 - 17061456 17063795 - 1580863 15461802;10585773;20424473 27093 ABBA01001469;AMYH01012420;AP000365;AP000547;NG_002679 1797790;2183943 KCNMB3_1988;RH65790 KCNMB2L;KCNMB3L;KCNMB3L1;KCNMBLP APPROVED pseudo 6288 INFERRED 1345390 KCNK5 potassium channel, subfamily K, member 5 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008] 6 6 p21 39264725 39305229 - 39156747 39197251 - 1580863;6480464 9812978;18516069;18157847;16382106;15489334;15197476;14702039;12851074;12634929;12477932;11256078;10839924;8889548;20582984;20631251;21832049;23568457;21680658;21314928;21964404;21139048;21906983;21988832;23251661 8645 O95279 ABBA01038308;AF084830;AK001897;AK314298;AL451185;AMYH01016288;BC060793;BC069573;BU608155;CH471081;EU978936;NM_003740 AAC79458;AAH60793;AAH69573;ACH86095;BAG36953;EAX03979;EAX03980;NP_003731;O95279 Hs.444448 1336886;1648848;1674687;1797788;2136977 D6S1680;KCNK5_2448;RH17455;RH18520;RH37409 FLJ11035;K2p5.1;TASK-2;TASK2 K2P5.1 potassium channel;OTTHUMP00000016343;TWIK-related acid-sensitive K(+) channel 2;TWIK-related acid-sensitive K+ channel 2;acid-sensitive potassium channel protein TASK-2;potassium channel subfamily K member 5;potassium channel, subfamily K, member 1 (TASK-2) APPROVED protein-coding ENSG00000164626 6280 04604 603493 REVIEWED 734260 KCNK9 potassium channel, subfamily K, member 9 This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains, and is highly expressed in the cerebellum. Amplification and overexpression of this gene has been observed in several types of human carcinomas, notably in breast cancer. This gene is imprinted in fetal brain, with preferential expression from the maternal allele. [provided by RefSeq, Oct 2010] 8 8 q24.3 140693986 140784481 - 140624804 140715299 - 729095;1580863;6480464;7240710 10734076 22893713;11042359;18854423;18824070;18678320;18417474;18375952;18217213;18094996;17704508;17547699;17013562;16382106;15601307;15489334;15284350;15197476;12782791;12676587;12477932;12433946;11886861;11431495;11256078;10747866;20931182;20049674;19703964;20379614;21357689;21700879;21512417;21710317;21540350;21910834;23564779 51305 Q9NPC2 ABBA01013654;AC007869;AF212829;AF248241;AF257080;AF279809;AMYH01019058;AY190605;BC075079;BC075080;BC112063;BC112065;CH471060;NG_012842;NM_016601 AAF63708;AAF85982;AAG31730;AAG33126;AAH75079;AAH75080;AAI12064;AAI12066;AAO38739;EAW92196;EAW92197;EAW92198;NP_057685;Q9NPC2 Hs.493037 1337134;1339934;1727229;1796210 D8S1741;D8S1743;G62869;KCNK9_889 K2p9.1;KT3.2;MGC138268;MGC138270;TASK-3;TASK3 OTTHUMP00000226147;TWIK-related acid-sensitive K(+) channel 3;TWIK-related acid-sensitive K+ channel 3;acid-sensitive potassium channel protein TASK-3;potassium channel TASK3;potassium channel subfamily K member 9;potassium channel, subfamily k, member 9 (task-3);two pore K(+) channel KT3.2;two pore potassium channel KT3.2 APPROVED protein-coding ENSG00000169427 6283 16167 605874;612292 REVIEWED 1323526 KCNMB3 potassium large conductance calcium-activated channel, subfamily M beta member 3 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009] 3 3 q26.3-q27 180443246 180467532 - 178957537 178984838 - 1580863 10692449;10766764;10792058;19204046;18591419;16958040;14612589;12740608;12477932;12136044;11382809;11382808;10864947;10828459;10585773;10758170 27094 Q9NPA1 ABBA01058542;ABBA01058543;AC007823;AC076966;AF139471;AF160968;AF170916;AF204159;AF204160;AF204161;AF204162;AF214561;AI990131;AK304837;AMYH01013686;BC082272;BC113851;CH471052;NM_001163677;NM_014407;NM_171828;NM_171829;NM_171830;NR_028135 AAD54771;AAF36598;AAF67811;AAF89698;AAF97031;AAF97032;AAF97033;AAF97034;AAI52861;BAH14265;EAW78417;EAW78418;EAW78419;EAW78420;EAW78421;NP_001157149;NP_055222;NP_741979;NP_741980;NP_741981;Q9NPA1 Hs.591285 1754551;1797790;1851173;2109487;2139946;2183943 KCNMB3_1988;LRRFIP1__6241;RH45754;RH65790;SHGC-132833;SHGC-53062 BKBETA3;HBETA3;KCNMB2;KCNMBL;SLOBETA3 BK channel subunit beta-3;K(VCA)beta-3;OTTHUMP00000211971;OTTHUMP00000211972;OTTHUMP00000211973;OTTHUMP00000211974;OTTHUMP00000211975;OTTHUMP00000217170;calcium-activated potassium channel subunit beta-3;calcium-activated potassium channel, subfamily M subunit beta-3;charybdotoxin receptor subunit beta-3;large conductance, voltage and Ca2+ activated potassium channel Maxi K beta 3 subunit;maxi K channel subunit beta-3;slo-beta-3 APPROVED protein-coding ENSG00000171121 6287 05563 605222 REVIEWED 731981 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 q22.3 78299366 79067583 - 78629359 79397577 - 1580863;6480464;7240710 7993625;10692449;15528406;7877450;12388065;11245614;7573516;17706472;18458941;18180950;10840032;11641143;19482008;19456106;19344525;19204046;19168436;19118164;19096717;19052171;18854754;18719396;18559348;18480178;18414909;18404672;18385281;18367663;18345016;18316727;18227273;18162557;18084004;17989352;17901123;17591990;17591987;17586600;17521822;17483867;17468961;17166942;17150299;17146446;16951373;16895996;16790810;16396928;16382103;16100257;16042390;15937479;15849354;15703204;15489334;15280542;15194822;15164054;14715246;14702039;14631046;14584897;14523450;14522958;12566537;12477932;12438308;12434576;12391293;12223479;12161564;12016222;12009018;11986367;11880513;11880485;11832330;11604135;10489376;10097176;9829973;9391153;8962157;8821792;8612769;8006036;7987297;7687074;10758170;22474334;20427280;20677014;20012488;11401860;20400778;20479001;15251455;16081418;16385451;19430934;19552602;19617704;19640305;19718020;20037152;20051533;20379614;20424473;20457834;20959415;19738431;20630939;20574420;20624858;20808839;20508092;21413024;21072171;21078868;22896041;21708048;21301863;21613417;21670298;22331907;21757754;21724437;22504420;22074915;22140451;22446331;22194818;23237801;22538239;22710124;15174051;22899999;23232643 3778 B7ZMF5;D5MRH1;F8WA96;H0Y379;H0Y382;H0Y406;H0Y5Z6;H0Y606;J3KQ16;Q59FH2;Q5SVJ7;Q5SVJ8;Q5SVJ9;Q5SVK0;Q5SVK3;Q5SVK5;Q6AI34;Q96LG8 AB113382;AB113575;AB209488;AB524033;ABBA01020232;ABBA01020233;ABBA01020234;ABBA01020235;ABBA01020236;ABBA01020237;ABBA01020238;ABBA01020239;AC011439;AC021032;AC067745;AF025999;AF118141;AF349445;AK024857;AK055362;AK124355;AK128392;AK310379;AL157833;AL607069;AL627447;AL731556;AL731560;AL731575;AMYH01002846;AMYH01002847;AMYH01002848;AMYH01002849;AMYH01002850;AY040849;AY445624;BC009695;BC024965;BC062659;BC137115;BC137137;BC144496;BQ574058;BX648925;CH471083;CR627384;NG_012270;NM_001014797;NM_001161352;NM_001161353;NM_001271518;NM_001271519;NM_001271520;NM_001271521;NM_001271522;NM_002247;U02632;U09384;U11058;U11717;U13913;U23767 AAA50173;AAA50216;AAA85104;AAA92290;AAB65837;AAB88802;AAC50353;AAD31173;AAH62659;AAI37116;AAI37138;AAI44497;AAK30158;AAK91504;AAS01054;BAD06365;BAD06397;BAD92725;BAJ07308;CAH10480;EAW54597;EAW54598;EAW54599;EAW54600;EAW54601;EAW54602;NP_001014797;NP_001154824;NP_001154825;NP_001258447;NP_001258448;NP_001258449;NP_001258450;NP_001258451;NP_002238;Q12791 Hs.144795 1334704;1336331;1341680;1652088;1652150;1653269;1654508;1662572;1667577;1668626;1683391;1697412;1706042;1706262;1712561;1718205;1731112;1744221;1751469;1751843;1754053;1754109;1754567;1755799;1757337;1760953;1765615;1778363;1847333;1854339;1855695;2114372;2134213;2134690;2161656;2172002;2178886;2183182;2186806;5017481;7185534 A003B45;D10S109;D10S1730;D10S2223;D10S2255;D10S2291;D10S2368;D10S2378;D10S307;D10S605;G09279;G10716;G17456;G17472;GDB:438010;KCNMA1;NIB1917;RH102206;RH11276;RH122872;RH41997;RH45858;RH92037;SHGC-105266;SHGC-105839;SHGC-132094;SHGC-132140;SHGC-132853;SHGC-142644;SHGC-144741;SHGC-144912;SHGC-149064;SHGC-53476;SHGC-78665;SHGC-80677;STS-U13913;U09383;WI-13549;WI-15110;WI-18797 BKTM;DKFZp686K1437;KCa1.1;MGC71881;MaxiK;SAKCA;SLO;SLO-ALPHA;SLO1;bA205K10.1;mSLO1 BK channel;BK channel alpha subunit;BKCA alpha subunit;Drosophila slowpoke-like;OTTHUMP00000019904;OTTHUMP00000019905;OTTHUMP00000019906;OTTHUMP00000019907;OTTHUMP00000019908;OTTHUMP00000019909;OTTHUMP00000019910;OTTHUMP00000019911;OTTHUMP00000019912;OTTHUMP00000019913;OTTHUMP00000019914;calcium-activated potassium channel subunit alpha-1;calcium-activated potassium channel subunit alpha-1; uncharacterized protein;calcium-activated potassium channel, subfamily M subunit alpha-1;hSlo;k(VCA)alpha;maxi K channel;maxi-K channel HSLO;slo homolog;slowpoke homolog;stretch-activated Kca channel APPROVED protein-coding ENSG00000156113 6284 15967 600150;609446 REVIEWED 733456 KCNMB1 potassium large conductance calcium-activated channel, subfamily M, beta member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008] 5 5 q34 169737745 169749216 - 169805167 169816638 - 69871;1581719;1581718;1580863;1298970;6480464;7240710 9888999;16155733;16293791;14551242 8612769;8799178;19295429;19282863;19204046;19057512;19050450;18854753;18660489;18535015;18496125;18418400;17700361;17496725;16446507;16189514;15671602;15528406;15489334;15057310;14522958;12962281;12893878;12670831;12477932;12434576;12223479;12136044;12011654;11994272;11790768;10792058;10489376;8764643;8006036;19913121;20628086;16002321;19289549;19430934;19801679;20424473;20457834;20966391;20861615;21413024;16344560;22114151;23255603 3779 AAB39373;Q16558 AA464625;ABBA01044097;AC134820;AF026002;AF035046;AK313979;AMYH01015802;AY044441;AY515264;BC025707;CH471062;DA619309;NG_011452;NG_011538;NM_004137;U25138;U38907;U42600;U42601;U42603;U61536;U61537 AAA81327;AAB02394;AAB16825;AAB16826;AAB16827;AAB39373;AAB61396;AAB61397;AAB88805;AAH25707;AAK95827;AAS20193;BAG36693;EAW61474;EAW61475;EAW61476;NP_004128;Q16558 Hs.484099;Hs.744947 1778426;2217516 KCNMB1_3183;RH79077 BKbeta1;K(VCA)beta;SLO-BETA;hbeta1;hslo-beta;k(VCA)beta-1;slo-beta-1 BK channel beta subunit;BK channel subunit beta-1;BKbeta;BKbeta1;Maxi K channel beta subunit;OTTHUMP00000160996;calcium-activated potassium channel subunit beta;calcium-activated potassium channel subunit beta-1;calcium-activated potassium channel, subfamily M subunit beta-1;charybdotoxin receptor subunit beta-1;hbeta1;k(VCA)beta-1;large conductance Ca2+-activated K+ channel beta 1 subunit;maxi K channel subunit beta-1;slo-beta-1 APPROVED protein-coding ENSG00000145936 6285 10358 603951;608622 REVIEWED 1343870 KCNMB2 potassium large conductance calcium-activated channel, subfamily M, beta member 2 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013] 3 3 q26.32 179736918 180044911 + 178254224 178562217 + 1580863;6480464 10692449;10097176;17521822;17460083;16446507;15489334;14522958;12566540;12477932;12136044;11517232;10792058;10766764;10377337;10758170;19204046;19684603;21832049;11181995;22688191;16344560;20859064;8889548;23291589 10242 E7EM81;E7ETM2;F8WE19;Q9Y691 AA904191;AB193524;AB193525;AB193526;AB193527;AB193528;AB193529;AB193530;ABBA01058547;ABBA01058548;AC024220;AC092929;AC117457;AC139661;AF099137;AF209747;AK298291;AMYH01013682;BC017825;BF434939;BG701449;BM983559;CH471052;DA532966;NM_001278911;NM_005832;NM_181361 AAD23380;AAF36562;AAH17825;ABM82937;ABM86126;BAG69602;BAG69603;BAG69604;BAG69605;BAG69606;BAG69607;BAG69608;BAH12749;EAW78428;EAW78429;EAW78430;EAW78431;NP_001265840;NP_005823;NP_852006;Q9Y691 Hs.478368 1338534;1710742;1796212;2111073;2148663;2155426;2155870 1214;D3S1500E;D3S3730;G19162;KCNMB2_891;SHGC-77567;SHGC-84001 MGC22431 BK channel subunit beta-2;BKbeta2;MaxiK channel beta 2 subunit;OTTHUMP00000211869;OTTHUMP00000211870;OTTHUMP00000211871;OTTHUMP00000211872;OTTHUMP00000211874;calcium-activated potassium channel subunit beta-2;calcium-activated potassium channel, subfamily M subunit beta-2;charybdotoxin receptor subunit beta-2;hCG1646471;hbeta2;hbeta3;k(VCA)beta-2;large conductance calcium-activated potassium channel beta 2 subunit;large-conductance Ca2+-activated K+ channel beta2 subunit;maxi K channel subunit beta-2;slo-beta-2 APPROVED protein-coding ENSG00000197584 6286 05557 605214 REVIEWED 5688621 KCNQ1-AS1 KCNQ1 antisense RNA 1 p15.5 338653 AC013791;AJ251642 Hs.639425 APPROVED miscrna 42790 1343155 KCNMB4 potassium large conductance calcium-activated channel, subfamily M, beta member 4 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008] 12 12 12 q 70423736 70488648 + 69046329 69111245 + 70760062 70828072 + 6480464 10692449;18981408;18559348;17913586;15489334;12477932;12223479;12136044;11790768;10828459;10804197;10792058;10758170;19204046;19578543;14702039;21848922 27345 H0YC85;Q86W47 A94697;ABBA01026523;ABBA01026524;AC025569;AF160967;AF207992;AF215891;AK054684;AMYH01004576;BC037898;BC042446;BC047427;BC050621;BM805224;BU556960;CH471054;NM_014505 AAF28333;AAF69805;AAF75596;AAH42446;AAH50621;CAB70439;EAW97251;NP_055320;Q86W47 Hs.525529 1649522;1649524;1664401;1668201;1682067;1698898;1728515;1787866;1796214;2162396;2173296;2173298;2174891;5015619;5022651 A004H24;A005A38;A005R39;BCD1535;D11S2921;D11S3114;G20225;G20451;G63695;KCNMB4_893;RH103017;RH94337;SHGC-173523;WI-12177;WI-22339 BK channel subunit beta-4;BKbeta4;OTTHUMP00000236251;calcium-activated potassium channel subunit beta-4;calcium-activated potassium channel, subfamily M subunit beta-4;charybdotoxin receptor subunit beta-4;hbeta4;k(VCA)beta-4;large conductance calcium-dependent potassium ion channel beta 4 subunit;maxi K channel subunit beta-4;slo-beta-4 APPROVED protein-coding ENSG00000135643 6289 05564 605223 REVIEWED 733381 KCNN3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 1 1 q21.3 152946526 153109378 - 154669938 154842754 - 1358338;1358671;6480464;7204683 12007452;9672903;21942705 22019810;19336370;19058789;18519826;18227067;17869187;17101631;17061167;16162291;16086287;15389773;14638680;14559917;12960745;12898569;12808432;12778407;12497613;12477932;12457234;12434576;11807415;11803450;11532529;11526470;11501944;11395478;11369031;11311923;11146124;11121173;10732800;16393881;16382103;10395215;9491810;8896557;8781233;10758170;10026195;21398315;19472917;19646982;20173747;20360009;20379614;20468064;17207965;20933057;22030984;14978258;21832049;20872144;21266667;22416006;21433290;21906983;22544366;20972266;22952906;23251661;23511633 3782 Q9UGI6 AA284005;ABBA01016726;ABBA01049493;AF031815;AF336797;AF438203;AJ251016;AK310077;AL390204;AL606500;AL954342;AMYH01001420;AW135188;AY049734;AY138900;AY138901;AY258142;BC030100;BC042147;CH471121;NG_016807;NM_001204087;NM_002249;NM_170782;Y08263 AAC26099;AAH42147;AAK15345;AAL10706;AAL40801;AAN46636;AAN46637;AAP45947;ADQ32897;CAA69590;CAB61331;EAW53179;EAW53180;EAW53181;EAW53182;NP_001191016;NP_002240;NP_740752;Q9UGI6 Hs.490765 1652379;1691976;1709448;1758007;1761661;1761663;1765495;1796216;2114461;2144943;5020948;5022200;5022578;5022588;5024039;5037552 AF021127;AL033640;D16S325;D1S1423;D5S1597E;D8S2279;G16005;G35510;KCNN3_897;L18426;SHGC-145644;SHGC-145645;SHGC-147087;SHGC-148977;SHGC-81767;STS-Y08263 KCa2.3;SK3;SKCA3;hSK3 OTTHUMP00000035369;OTTHUMP00000035370;OTTHUMP00000035371;SKCa 3;small conductance calcium-activated potassium channel protein 3 APPROVED protein-coding 6292 04283 602983 REVIEWED 734125 KCNN2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 5 5 q22.3 113725915 113860096 + 113698016 113832197 + 1580863;6480464;6907045;7204683 21942705 10991935;17452806;17110593;16396931;16382103;15362045;14702039;13679367;12778407;12477932;11395478;11323678;11146124;10713270;10758170;19139040;19815520;22154908;20972266;21906983;10559207;11527975;23251661 3781 D6RGY7;Q9H2S1 ABBA01069039;ABBA01069040;AC025761;AC109482;AF239613;AF397175;AK090521;AK289948;AMYH01015553;AY258141;BC015371;BC040722;BC117454;BC117456;BG477734;BG769522;CH471086;NM_001278204;NM_021614;NM_170775;NR_103458 AAG16728;AAH15371;AAI17455;AAI17457;AAK84039;AAP45946;BAF82637;EAW48975;EAW48976;NP_001265133;NP_067627;NP_740721;Q9H2S1 Hs.98280 1340888;1724009;1755555;2217518 D5S2065;KCNN2_3214;RH118957;SHGC-142407 KCa2.2;SK2;SKCA2;SKCa 2;hSK2 OTTHUMP00000159056;OTTHUMP00000222906;SKCa 2;apamin-sensitive small-conductance Ca2+-activated potassium channel;small conductance calcium-activated potassium channel protein 2 APPROVED protein-coding ENSG00000080709 6291 09323 605879 REVIEWED 731634 KCNN1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008] 19 19 p13.1 17923111 17970930 + 18062111 18109930 + 69872;1580863;6480464;7204683 8781233;21942705 16382103;15489334;12598727;12477932;11844726;11258935;11146124;10683185;10516439;10758170;17474147;19850743;22154908;20972266 3780 B4DP30;Q92952 AB198191;ABBA01051238;ABBA01051239;ABBA01051240;ABBA01051241;ABBA01051242;AC005602;AC020904;AF131948;AK298170;AMYH01009579;AMYH01009580;AMYH01009581;AW594619;BC075037;BE504989;CH471106;NG_029893;NM_002248;U69883 AAB09562;AAD37507;AAH75037;BAD86831;BAG60442;EAW84646;EAW84647;NP_002239;Q92952 Hs.158173 1334612;1850539;2179858 D19S1037;D4S2293;SHGC-30545 KCa2.1;SK1;SKCA1;hSK1 SKCa 1;small conductance calcium-activated potassium channel protein 1;small-conductance calcium-activated potassium channel APPROVED protein-coding 6290 04282 602982 REVIEWED 1349407 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012] 11 11 p15 2674977 2675568 - 2629558 2721228 - 6480464;7240710 19178079;18762571;18299392;18249379;18079696;16965397;16950814;16575194;15952111;15888726;15851119;15340049;15233993;15007390;14702039;14627666;12772698;12439823;12136243;11813134;10393948;10369866;10220444;8889549;7566098;22610651;19494037;19711451;19617707;20301568;21420679;20618351;18951091;21345374;21915889;21920939;22119056;22386265;23153226;20581827;23040914 10984 AA155694;ABBA01032083;AC021424;AC124055;AF086011;AK123073;AMYH01003323;NG_008935;NG_016178;NR_002728 Hs.604823;Hs.741312 1657546;1676700;1679762;1682626;1793408;1793410;2171707 PMC21842P1;PMC21842P2;RH17571;RH48362;RH94222;RH98704;WI-16373 FLJ41078;KCNQ1-AS2;KCNQ10T1;KvDMR1;KvLQT1-AS;LIT1;NCRNA00012 APPROVED miscrna ENSG00000269821 6295 130650;604115 REVIEWED 736263 KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p34 41022271 41076947 + 41249684 41306124 + 1600303;1580863;6480464;7240710 10369879 16917933;16823764;10025409;19523148;18941426;18797286;18786918;18030493;17329207;17237198;17033161;16382104;15660259;15304482;12524525;12484650;12112653;11245603;11042367;10925378;10713961;10571947;20739290;16344560;17568767;20301388;20200978;21242547;20832469;20966080;23554485;22420747;21730298;21651318;22101641;23431407;20301607 9132 B3KQH8;H0Y6N7;P56696 ABBA01023160;ABBA01023161;AC119677;AF105202;AF105216;AK074957;AMYH01000539;AMYH01000540;CA411644;CH471059;DA782056;NG_008139;NM_004700;NM_172163;XM_003960106 AAD14680;AAD14681;BAG52040;EAX07197;NP_004691;NP_751895;P56696;XP_003960155 Hs.473058 1763019;1763087;1766007;2153362 SHGC-146764;SHGC-146823;SHGC-149399;SHGC-74653 DFNA2;DFNA2A;KV7.4 KQT-like 4;OTTHUMP00000009219;OTTHUMP00000220901;OTTHUMP00000220902;potassium channel KQT-like 4;potassium channel subunit alpha KvLQT4;potassium voltage-gated channel subfamily KQT member 4;potassium voltage-gated channel, subfamily q, member 4;voltage-gated potassium channel subunit Kv7.4 APPROVED protein-coding ENSG00000117013 6298 04641 600101;603537 REVIEWED 6481347 KCNQ5-AS1 KCNQ5 antisense RNA 1 6 73844526 73853237 - 100873997 ABBA01040303;AL365232;AMYH01016423;BM552969;NR_046621 Hs.741819;Hs.743196 1817024;1921592 ECD09561;REN31619 APPROVED miscrna ENSG00000229154 40323 PREDICTED 6481344 KCNQ5-AS2 KCNQ5 antisense RNA 2 100873996 AL049845 APPROVED miscrna 40322 6770693 KCNQ5-IT1 KCNQ5 intronic transcript 1 (non-protein coding) 6 73340085 73388282 + 100507381 ABBA01040299;ABBA01040300;AL049845;AL445569;AL671823;AMYH01016421;XR_158796;XR_159465;XR_171586 Hs.662412 5113036 RH92149 miscrna 41354 MODEL 1353354 KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 p15.5 2422797 2826916 + 2466221 2870340 + 1580507;1580508;1580509;1580863;1580502;2317967;1581602;6480464;6907045;1580497;7240710;7247625;7247613 12522251;12051962;9312006;15840476;18587108;16368876;15389592;15120704;22199116 21241800;8900283;17474147;8528244;9020846;22403629;22509038;19584308;19556355;19551538;19523148;19521339;19516902;19502414;19490272;19372218;19366866;19348785;19340287;19322600;19308350;19305409;19305408;19261104;19252135;19247372;19218243;19202166;19198868;19167356;19160088;19156197;19149796;19139916;19131515;19114714;19077539;19056345;19029186;19027783;19006182;18991055;18931301;18808722;18803136;18774102;18757482;18752142;18713323;18711367;18711366;18651418;18611041;18599533;18596570;18590565;18580685;18567635;18504315;18464913;18441444;18426444;18400097;18390900;18308161;18279388;18266681;18192214;18174212;18093912;18079560;17999538;17997361;17984373;17980676;17932138;17916649;17905336;17853647;17698596;17676362;17646758;17626898;17596298;17544529;17534376;17482572;17470695;17467630;17384445;17310097;17292394;17227916;17210839;17161064;17130521;17016049;17010804;16987820;16880338;16823764;16818214;16723781;16631607;16610241;16563243;16556866;16556865;16487842;16487223;16414944;16382104;16308347;16253915;16246960;16155735;16132053;16129795;15904893;15851119;15746444;15707997;15696484;15649981;15534720;15511625;15459184;15367556;15340049;15242738;15234419;15226366;15176425;15159330;15051636;15028050;14998624;14761891;14760488;14756674;14743216;14731347;14678125;14661677;14576198;14510661;12849668;12820704;12690509;12670483;12612194;12524525;12511562;12482884;12477932;12442276;12402336;12080180;11997281;11877438;11799244;11761407;11743032;11289718;11136691;11104781;11101505;11076863;10973849;10970817;10728423;10713961;10704188;10654932;10646604;10482963;10409658;10367071;10220146;10220144;10090886;10024302;9927399;9799083;9781056;9702906;9693036;9641694;9570196;9482580;9386136;9323054;9305853;9302275;9272155;9164812;9108097;9024139;8872472;8818942;20526338;23000022;20981542;21231794;21084694;19913121;20553101;20581827;20606385;20628086;20682687;20701788;20802253;20816152;20850564;20368164;20421371;20662986;15924777;19289549;19401414;19448982;19540844;19575309;19590188;19632626;19646991;19714318;19716085;19741467;19798621;19808498;19825999;19841300;19843919;19850681;19880070;19892838;19907016;19933996;19940153;19956635;20031635;20040519;20044973;20056949;20062063;20071715;20085748;20108749;20138589;20174558;20186784;20203524;20226272;20379614;20386770;20400777;20424473;20470906;20490451;20509872;20512086;20541041;16540748;19959132;19617707;20533308;9020845;20833965;20851114;20855658;20875080;20879858;20889853;20962273;21063070;21063774;21070882;19934648;20479109;20139709;20920651;19817925;19913547;20940310;21059661;20301308;20301579;20890437;21084310;22923468;21459285;21573907;21320432;21212535;21228319;21416855;21149716;21164565;21261977;21118729;21129503;21451124;21118809;21185499;22905262;23144361;22696034;23650380;22151254;22508963;21355884;22024150;22206064;10843888;21709633;21691061;21730298;21844197;20861072;21810471;21854832;21957902;22377714;22095730;22727609;23107108;22805606;17289006;22908235;22250012;20301568;21767287;22456477;20881960;21799836;22309168;23133642;23529131;23359697;23571586;22882672;23139357;23241319;22961080;23166209;12324418;22406554;22539601;10400998;11299204;18165683;22479571;22560601;22613981;22293141;23092362;22790062 3784 E9PPZ0;F8W824;P51787;Q96AI9 AB015163;ABBA01032081;ABBA01032082;ABBA01032083;ABBA01032084;ABBA01032085;ABBA01032086;ABBA01032087;ABBA01032088;AC013791;AC021424;AC124055;AC124057;AF000571;AF003743;AF051426;AI439544;AI473902;AJ006343;AJ006344;AJ006345;AK129678;AK290618;AMYH01003322;AMYH01003323;AP006463;AY114213;BC017074;BC113545;CH471158;EF010934;EF010935;NG_008935;NM_000218;NM_181798;NR_040711;U86146;U89364 AAB53974;AAC00066;AAC05705;AAC51776;AAC51781;AAH17074;AAI11848;AAI13546;AAM94040;ABJ98773;ABJ98774;ADR83214;BAA34738;BAA34739;BAF83307;CAB44649;CAB44650;EAX02517;EAX02518;EAX02519;EAX02520;EAX02521;NP_000209;NP_861463;P51787 Hs.95162 1336629;1337754;1338995;1657546;1676700;1679762;1682626;1703636;1710804;1737721;1737727;1737733;1760833;1766891;1778557;1793182;1793408;1793410;1793440;1796218;2111944;2111948;2118986;2151783;2171707 D10S569;D10S607;D11S3313;D11S3319;D11S3328;D11S4088;D11S4726;D11S4744;G17603;KCNA8;KCNQ1_348;PMC19930P1;PMC21842P1;PMC21842P2;PMC22188P1;RH17571;RH18059;RH48362;RH94222;RH98704;SHGC-144501;SHGC-152334;SHGC-78732;SHGC-84145;WI-16373 ATFB1;ATFB3;FLJ26167;JLNS1;KCNA8;KCNA9;KVLQT1;Kv1.9;Kv7.1;LQT;LQT1;RWS;SQT2;WRS IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1;KQT-like 1;OTTHUMP00000011540;OTTHUMP00000011587;kidney and cardiac voltage dependend K+ channel;potassium voltage-gated channel subfamily KQT member 1;slow delayed rectifier channel subunit;voltage-gated potassium channel subunit Kv7.1 APPROVED protein-coding ENSG00000053918 6294 06341 192500;220400;607542;607554;609621 REVIEWED 732698 KCNN4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008] 19 19 q13.2 48962525 48977249 - 44270685 44285409 - 729207;1580863;6480464;7204683 9380751;21942705 9407042;19644414;19409928;19406468;19270724;19052260;18796614;18792407;18690018;18688283;18547995;18367588;18287336;18227067;18184876;17762175;17585114;17474152;17470662;17353352;17310992;17157250;17151145;16766578;16382103;16251351;15965951;15817638;15489334;15452196;15339840;15039018;14754884;14724753;12773623;12612194;12609997;12493744;12198491;12477932;12434576;12421833;11425865;10961988;10026195;9693050;9326665;10758170;10880439;20808839;19587117;19608980;19823864;20407432;20501432;20712009;20036632;20720181;21172909;21123738;21228320;21345794;23000965;23407879;23589888;23609438;21872912;21551009;21828287;21725609;21139048;21465474;21890473;21906983;21987572;23345219 3783 M0QZ70;M0R1J0;M0R2E8;M0R2F1;O15554 A95651;AB128983;AB128984;AB128985;ABBA01040868;AC115522;AF000972;AF022150;AF022797;AF033021;AF053403;AF305731;AF305735;AF395661;AMYH01009840;BC015337;BT007426;CH471126;HC874393;NM_002250 AAB82739;AAC23541;AAC35281;AAC36804;AAC51913;AAG26917;AAH15337;AAK81862;AAP36094;ABM82419;ABM85610;BAI52725;BAI52726;BAI52727;CAB70490;CBM42811;EAW57229;EAW57230;NP_002241;O15554 Hs.10082 1339729;1664267;1778262;7185286;7185560 D19S217;RH47242;SHGC-33130 IK1;IKCA1;KCA4;KCa3.1;SK4;hIKCa1;hKCa4;hSK4 SKCa 4;SKCa4;intermediate conductance calcium-activated potassium channel protein 4;putative Gardos channel;putative erythrocyte intermediate conductance calcium-activated potassium Gardos channel APPROVED protein-coding ENSG00000104783 6293 04130 602754 REVIEWED 1349570 KCNQ1DN KCNQ1 downstream neighbor (non-protein coding) Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008] 11 11 11 p15.4 2925967 2928039 + 2848503 2849689 + 2891263 2893335 + 15489334;12477932;11063728;11056398;22067257 55539 Q9H478 AB039920;ABBA01032080;AC013791;AJ404617;AMYH01003323;BC098159;BC098256;BC098319;BC098344;CH471158;NR_024627 CAB95125;EAX02523;Q9H478 Hs.127821 BWRT;HSA404617 APPROVED miscrna ENSG00000237941 13335 17174 610980 VALIDATED 735595 KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Two variants encoding distinct isoforms have been found. [provided by RefSeq, Mar 2011] 8 8 q24 133210438 133562186 - 133133105 133493004 - 1580863;6480464;7240710 9677360;9425900;18790849;18786918;18676988;18625963;18425618;18249525;18166285;18089837;16990515;16735477;16721610;16382104;16319223;16235065;15483133;15304482;14534157;12928862;12890507;12832524;12640002;12524525;12223552;12147327;12032157;11159685;11034315;10953053;10908292;10852552;10788442;10781098;10713961;10713399;10684873;10479678;10025409;9872318;9836639;8102508;1859177;19913121;20628086;20610766;12477932;19464834;20379614;14702039;21730298;21976501;21980481;16525039;20437616;22334706;23360469;22447848;23209695 3786 E7ET42;O43525 AB208890;ABBA01014210;ABBA01014211;ABBA01014212;ABBA01014213;AC018540;AC123776;AC131042;AC136373;AF033347;AF071478;AF071491;AK094705;AK095711;AK296293;AMYH01019036;AV728013;BC128576;BX538233;CH471060;CS327666;NG_008854;NM_001204824;NM_004519 AAB97314;AAC96101;AAI28577;AAI52756;BAD92127;BAG58996;CAL00146;EAW92141;EAW92142;NP_001191753;NP_004510;O43525 Hs.374023 1339115;1340823;1652829;1654153;1698028;1726777;1735830;1748489;1759235;1764075;1770997;1780194;1796220;2113894;2122403;2182647;7184692;7185317;7185460 AB047879;D8S1431E;D8S1835;D8S295E;D8S558;G62778;KCNQ3_350;RH102545;RH47376;RH47380;SHGC-147728;SHGC-150710;SHGC-154560;SHGC-582;STS-AA033801;WI-14883 BFNC2;DKFZp686C0248;EBN2;FLJ37386;FLJ38392;KV7.3 KQT-like 3;OTTHUMP00000174705;OTTHUMP00000227140;OTTHUMP00000227141;potassium channel subunit alpha KvLQT3;potassium channel, voltage-gated, subfamily Q, member 3;potassium voltage-gated channel subfamily KQT member 3;voltage-gated potassium channel subunit Kv7.3 APPROVED protein-coding ENSG00000184156 6297 09077 121201;602232 REVIEWED 736657 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.3 61507986 61574437 - 62037542 62103993 - 1580863;6480464;7240710 9677360;9425895;18625963;18545987;18448631;18353052;18246739;18166285;18089837;18006581;17993630;17872363;17724161;17675531;17475800;17382933;16990515;16721610;16691402;16464983;16382104;16319223;16260777;16235065;15596769;15489334;15483133;15304482;15249611;15178210;15030501;14985406;14759258;14534157;12975309;12890507;12847176;12832524;12754513;12742592;12640002;12524525;12477932;12458027;12395102;12223552;12032157;11780052;11726784;22169383;11572947;11175290;11160379;11034315;10953053;10908292;10788442;10781098;10713961;10713399;10684873;10479678;10323247;9872318;9836639;9827540;9430594;9039501;16169070;19464834;19494108;19559753;19818940;20119593;17044971;23065794;21156207;21913284;21976501;21980481;23360469;23440208;22275249;21937445;16525039;20437616;22334706;21723881;22447848;22884718;23209695;23290024 3785 A6ND05;A6NM44;Q4VXP0;Q4VXP2;Q4VXP3;Q4VXP6;Q4VXP7;Q53Y30;Q99454 ABBA01021395;ABBA01021396;AF033348;AF074247;AF110020;AK293727;AL121827;AL121829;AL353658;AMYH01012078;AMYH01012079;AMYH01012080;AMYH01012081;AMYH01012082;AY358189;BC000699;BC020384;BC127262;BT007043;CH471077;D82346;NG_009004;NM_004518;NM_172106;NM_172107;NM_172108;NM_172109;Y15065 AAB97315;AAC25921;AAD16988;AAH00699;AAI46295;AAP35692;AAQ88556;BAA11557;BAG57155;CAA75348;EAW75271;EAW75272;EAW75273;EAW75274;EAW75275;EAW75276;EAW75277;EAW75278;EAW75279;EAW75280;EAW75281;EAW75282;NP_004509;NP_742104;NP_742105;NP_742106;NP_742107;O43526 Hs.161851;Hs.652468 1677022;1680936;1687718;1729039;1784378;1797792;5022450;5022578 D10S275;D1S1423;KCNQ2_1774.3;RH12581;RH38946;RH98438;SHGC-149529;UniSTS:143684 BFNC;BFNS1;EBN;EBN1;EIEE7;ENB1;HNSPC;KCNA11;KV7.2;KVEBN1 KQT-like 2;OTTHUMP00000031681;OTTHUMP00000031682;OTTHUMP00000031683;OTTHUMP00000031684;OTTHUMP00000031685;OTTHUMP00000031686;OTTHUMP00000031687;OTTHUMP00000031689;OTTHUMP00000214671;neuroblastoma-specific potassium channel protein;neuroblastoma-specific potassium channel subunit alpha KvLQT2;potassium voltage-gated channel subfamily KQT member 2;voltage-gated potassium channel subunit Kv7.2 APPROVED protein-coding ENSG00000075043 6296 03757 121200;602235;613720 REVIEWED 1316250 KCNRG potassium channel regulator This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 13 13 q14.2 49487391 49493059 + 50589390 50595058 + 1580863;6480464 16189514;18029348;19251657;16819283;16499869;15489334;15188451;14702039;12650944;12477932;19447967;19968958;20237900 283518 Q8N5I3 ABBA01051034;AF086244;AK313401;AL137060;AMYH01005112;AY129653;AY129654;AY169387;AY169388;AY190921;AY190922;BC020887;BC032343;BX116021;CH471075;NM_173605;NM_199464 AAH20887;AAH32343;AAN06090;AAN06091;AAO11777;AAO11778;AAO27464;AAO27465;ABM82527;ABM85722;EAX08849;EAX08850;NP_775876;NP_955751;Q8N5I3 Hs.660161 1654760;1671960;1740833;1851231;2107241 D13S1476;KCNRG__6503;RH44787;RH45034;SHGC-57506 DLTET OTTHUMP00000178640;OTTHUMP00000178641;potassium channel regulatory protein;putative potassium channel regulatory protein APPROVED protein-coding ENSG00000198553 18893 06404 607947 VALIDATED 735720 KCNS1 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008] 20 20 20 q12 40429593 40438396 - 43154364 43163167 - 43720950 43729753 - 737625;1580863;6480464 9305895 10484328;16382104;15489334;12477932;11780052;11549316;20724292;23314412;22925353 3787 A2RUL8;Q96KK3 ABBA01052657;AF043473;AK289735;AMYH01011937;BC075033;BC075034;BC132957;BC132959;BC144234;CH471077;NM_002251;Z93016 AAC13165;AAH75033;AAH75034;AAI32958;AAI32960;AAI44235;BAF82424;EAW75879;EAW75880;NP_002242;Q96KK3 Hs.117780 1797794 KCNS1_1320 KV9.1 OTTHUMP00000031783;delayed-rectifier K(+) channel alpha subunit 1;delayed-rectifier K+ channel alpha subunit 1;potassium voltage-gated channel subfamily S member 1;voltage-gated potassium channel protein Kv9.1;voltage-gated potassium channel subunit Kv9.1 APPROVED protein-coding ENSG00000124134 6300 04214 602905 REVIEWED 1351630 KCNQ5 potassium voltage-gated channel, KQT-like subfamily, member 5 This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 6 6 q14 73388556 73962301 + 73331571 73908574 + 1580863;6480464 10787416;18786918;18457656;17237198;16382104;16344560;15489334;15304482;14574404;12890507;12506198;12477932;12032157;11159685;10816588;19913121;20628086;19910673;20379614;21730298;22190306;22347474;23396134 56479 A6PVT6;A6PVT7;A6PVT8;A8MSQ5;F8WEA4;H0Y3Z0;Q9NRN0 ABBA01040299;ABBA01040300;ABBA01040301;ABBA01040302;ABBA01040303;AF202977;AF249278;AF263835;AJ272506;AK299550;AK299741;AK316070;AL049845;AL360232;AL360236;AL365232;AL445569;AL513522;AL671823;AMYH01016421;AMYH01016422;AMYH01016423;BC050689;BC117359;BC143554;BC143555;BF513800;CH471051;DA801374;FO393414;NM_001160130;NM_001160132;NM_001160133;NM_001160134;NM_019842 AAF69797;AAF73446;AAF91335;AAH50689;AAI17360;AAI43555;BAG61495;BAG61636;BAH14441;CAC88112;EAW48782;EAW48783;NP_001153602;NP_001153604;NP_001153605;NP_001153606;NP_062816;Q9NR82 Hs.445324 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31555;REN31556;REN31557;REN31558;REN31559;REN31560;REN31561;REN31562;REN31563;REN31564;REN31565;REN31566;REN31567;REN31568;REN31569;REN31570;REN31571;REN31572;REN31573;REN31574;REN31575;REN31576;REN31577;REN31578;REN31579;REN31580;REN31581;REN31582;REN31583;REN31584;REN31585;REN31586;REN31587;REN31588;REN31589;REN31590;REN31591;REN31592;REN31593;REN31594;REN31595;REN31596;REN31597;REN31598;REN31599;REN31600;REN31601;REN31602;REN31603;REN31604;REN31605;REN31606;REN31607;REN31608;REN31609;REN31610;REN31611;REN31612;REN31613;REN31614;REN31615;REN31616;REN31617;REN31618;REN31619;REN31620;REN31621;REN31622;REN31623;REN31624;REN31625;REN31626;REN31627;REN31628;REN31629;REN31630;REN31631;REN31632;REN31633;REN31634;REN31635;REN31636;REN31637;REN31638;REN31639;REN31640;REN31641;REN31642;REN31643;REN31644;REN31645;REN31646;REN31647;REN31648;REN31649;REN31650;REN31651;REN31652;REN31653;REN31654;REN31655;REN31656;REN31657;REN31658;REN31659;REN31660;REN31661;REN31662;REN31663;REN31664;REN31665;REN31666;REN31667;REN31668;REN31669;REN31670;REN31671;REN31672;REN31673;REN31674;REN31675;REN31676;REN31677;REN31678;REN31679;REN31680;REN31681;REN31682;REN31683;REN31684;REN31685;REN31686;REN31687;REN31688;REN31689;REN31690;REN31691;REN31692;REN31693;REN31694;REN31695;REN31696;REN31697;REN31698;REN31699;REN31700;REN31701;REN31702;REN31703;REN31704;REN31705;REN31706;REN31707;REN31708;REN31709;REN31710;REN31711;REN31712;REN31713;REN31714;REN31715;REN31716;REN31717;REN31718;REN31719;REN31720;REN31721;REN31722;REN31723;REN31724;REN31725;REN31726;REN31727;REN31728;REN31729;REN31730;REN31731;REN31732;REN31733;REN31734;REN31735;REN31736;REN31737;REN31738;REN31739;REN31740;REN31741;REN31742;REN31743;REN31744;REN31745;REN31746;REN31747;REN31748;REN31749;REN31750;REN31751;REN31752;REN31753;REN31754;REN31755;REN31756;REN31757;REN31758;REN31759;REN31760;REN31761;REN31762;REN31763;REN31764;REN31765;REN31766;REN31767;REN31768;REN31769;REN31770;REN31771;REN31772;REN31773;REN31774;REN31775;REN31776;REN31777;REN31778;REN31779;REN31780;REN31781;REN31782;REN31783;REN31784;REN31785;REN31786;REN31787;REN31788;REN31789;REN31790;REN31791;REN31792;REN31793;REN31794;REN31795;REN31796;REN31797;REN31798;REN31799;REN31800;REN31801;REN31802;REN31803;REN31804;REN31805;REN31806;REN31807;REN31808;REN31809;REN31810;REN31811;REN31812;REN31813;REN31814;REN31815;REN31816;REN31817;REN31818;REN31819;REN31820;REN31821;REN31822;REN31823;REN31824;REN31825;REN31826;REN31827;REN31828;REN31829;REN31830;REN31831;REN31832;REN31833;REN31834;REN31835;REN31836;REN31837;REN31838;REN31839;REN31840;REN31841;REN31842;REN31843;REN31844;REN31845;REN31846;REN31847;REN31848;REN31849;REN31850;REN31851;REN31852;REN31853;REN31854;REN31855;REN31856;REN31857;REN31858;REN31859;REN31860;REN31861;REN31862;REN31863;REN31864;REN31865;REN31866;REN31867;REN31868;REN31869;REN31870;REN31871;REN31872;REN31873;REN31874;REN31875;REN31876;REN31877;REN31878;REN31879;REN31880;REN31881;REN31882;REN31883;REN31884;REN31885;REN31886;REN31887;REN31888;REN31889;REN31890;REN31891;REN31892;REN31893;REN31894;REN31895;RH10998;RH11009;RH123115;RH92149;SHGC-104572;SHGC-110469;SHGC-146324;stSG625601;stSG625602;stSG625604;stSG625605;stSG625606;stSG625607;stSG625608;stSG625609;stSG625610;stSG625611;stSG625612;stSG625613;stSG625614;stSG625615;stSG625616;stSG625617;stSG625618;stSG625619;stSG625621;stSG625622;stSG625623;stSG625624;stSG625625;stSG625626;stSG625627;stSG625628;stSG625629;stSG625630;stSG625631;stSG625632;stSG625633;stSG625634;stSG625635;stSG625636;stSG625637;stSG625638;stSG625639;stSG625640;stSG625641;stSG625642;stSG625643;stSG625644;stSG625645;stSG625646;stSG625647;stSG625648;stSG625649;stSG625650;stSG625651;stSG625652;stSG625653;stSG625654;stSG625655;stSG625656;stSG625657;stSG625658;stSG625659;stSG625660;stSG625661;stSG625662;stSG625663;stSG625664;stSG625665;stSG625666;stSG625667;stSG625668;stSG625669;stSG625670;stSG625671;stSG625672;stSG625673;stSG625674;stSG625675;stSG625676;stSG625677;stSG625678;stSG625679;stSG625680;stSG625681;stSG625682;stSG625683;stSG625684;stSG625685;stSG625686;stSG625687;stSG625688;stSG625689;stSG625691;stSG625692;stSG625693;stSG625694;stSG625695;stSG625696;stSG625697;stSG625698;stSG625699;stSG625700;stSG625701;stSG625702;stSG625703;stSG625704;stSG625705;stSG625706;stSG625707;stSG625708;stSG625709;stSG625710;stSG625711;stSG625712;stSG625713;stSG625714;stSG625715;stSG625716;stSG625717;stSG625718;stSG625719;stSG625720;stSG625721;stSG625722;stSG625723 Kv7.5 KQT-like 5;OTTHUMP00000016729;OTTHUMP00000043674;OTTHUMP00000196167;potassium channel protein;potassium channel subunit alpha KvLQT5;potassium voltage-gated channel subfamily KQT member 5;voltage-gated potassium channel subunit Kv7.5 APPROVED protein-coding ENSG00000185760 6299 16241 607357 REVIEWED 1342899 KCNS2 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 8 8 8 q22 95625108 95628883 + 99508426 99512201 + 99439250 99443025 + 737625;1580863;6480464 9305895 16382104;15489334;12477932;10574461;8640222 3788 Q9ULS6 AB032970;ABBA01037538;AK293096;AMYH01018918;AP003355;BC027932;BC034778;CH471060;NM_020697 AAH27932;AAH34778;ADZ15418;BAA86458;BAF85785;EAW91780;NP_065748;Q9ULS6 Hs.388045 1659416;1766597;1848930;1851885;2140876 A004D03;RH101843;SHGC-149903;STS-R44628;WI-21518 KV9.2 OTTHUMP00000041400;delayed-rectifier K(+) channel alpha subunit 2;potassium voltage-gated channel subfamily S member 2;voltage-gated potassium channel subunit Kv9.2 protein-coding 6301 04215 602906 PROVISIONAL 1351112 KCNT2 potassium channel, subfamily T, member 2 1 1 1 q31.3 169303964 169686483 - 194461536 194844122 - 196194913 196577499 - 6480464 16687497;16382103;14684870;12477932;21116278 343450 A9LNM6;G8JLE3;Q3SY61;Q6UVM3;Q6ZS12 ABBA01027602;ABBA01027603;ABBA01027604;ABBA01027605;AK127807;AK131498;AK309729;AL138931;AL139137;AL358853;AL591604;AMYH01001617;AMYH01001618;AY359444;BC103947;BC103948;BC103949;BC103950;BX647852;CH471067;EU251076;JA176826;NM_198503 AAI03948;AAI03949;AAI03950;AAI03951;AAR06170;ABX11496;BAC87144;BAD18642;CAI46099;CCA64132;EAW91255;EAW91256;NP_940905;Q6UVM3 Hs.657046 1659177;1670187;1705440;1724623;1760215;1770340;1778651;1854867;2107623;2160990;2165774;2179312 AL009363;AL009418;AL009532;AL009592;AL009853;RH121310;RH69668;SHGC-132495;SHGC-33360;SHGC-76082;SHGC-83801;SLICK__6855 KCa4.2;MGC119610;MGC119611;MGC119612;MGC119613;RP11-58O13.1;SLICK;SLO2.1 OTTHUMP00000033601;OTTHUMP00000033602;potassium channel subfamily T member 2;sequence like an intermediate conductance potassium channel subunit;sodium activated potassium channel;sodium and chloride activated ATP sensitive potassium channel;sodium and chloride-activated ATP-sensitive potassium channel Slo2.1;sodium- and chloride-activated ATP-sensitive potassium channel;sodium-and chloride-activated ATP-sensitive potassium channel (SLICK) protein-coding ENSG00000162687 18866 11584 610044 VALIDATED 734382 KCNT1 potassium channel, subfamily T, member 1 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 9 9 9 q34.3 109111863 109202929 + 137733859 137824813 + 138594031 138684993 + 6480464 16382103;16344560;15164053;14702039;12477932;10718198;23086396;23147853;23086397 57582 B3KXF7;C9J9Y7;C9JAX7;C9JBV2;C9JYL2;C9JZ51;F8WC49;G5E9V0;Q5JUK3 AB037843;ABBA01030041;ABBA01030042;ABBA01030043;ABBA01030044;ABBA01030045;AK123276;AK124588;AK127272;AL158822;AMYH01021843;AMYH01021844;AMYH01021845;AMYH01021846;AMYH01021847;AMYH01021848;AMYH01021849;BC136618;BC144304;BC171770;BX110871;CH471090;DA095802;NG_033070;NM_001272003;NM_020822 AAI36619;AAI71770;BAA92660;BAG54469;EAW88177;EAW88178;EAW88179;EAW88180;EAW88181;EAW88182;NP_001258932;NP_065873;Q5JUK3 Hs.104950 1780152;2132934 SHGC-154477;STS-T51199 EIEE14;ENFL5;FLJ41282;KCa4.1;SLACK;bA100C15.2 OTTHUMP00000022558;OTTHUMP00000215618;OTTHUMP00000215619;OTTHUMP00000215620;OTTHUMP00000215622;OTTHUMP00000215624;potassium channel subfamily T member 1;potassium channel subunit (slack) protein-coding ENSG00000107147 18865 608167;614959;615005 REVIEWED 1344387 KCS Kenny-Caffey syndrome 7240710 9806825 3771 6303 241410;244460 1601689 KCP kielin/chordin-like protein 7 7 7 q32.1 123313433 123347287 - 128318191 128337966 - 128516919 128550773 - 6480464 15793581;14702039 375616 Q6ZWJ8 AACC02000035;ABBA01057649;ABBA01057650;ABBA01057651;ABBA01057652;AC025594;AK090684;AK090715;AK095464;AK122706;AMYH01017924;CH236950;CH471070;NM_001135914;NM_199349 BAC03505;BAC04553;BAC85504;EAW83694;NP_001129386;NP_955381;Q6ZWJ8 Hs.371746 1667669;5014063;5015619;5015861;5017227;7185938 D10S16;D11S3114;D15S1390;G38154;WI-14997 CRIM2;KCP1;NET67 CRIM-2;KCP-1;cysteine rich BMP regulator 2 (chordin-like);cysteine-rich BMP regulator 2;cysteine-rich motor neuron 2 protein;kielin;kielin-like;kielin/chordin-like protein;kielin/chordin-like protein 1 protein-coding 17585 14196 609344 VALIDATED 731286 KCNS3 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008] 2 2 2 p24 17940636 17994899 + 17923426 17977706 + 18059945 18114225 + 1580863;6480464 10484328;18676988;16382104;15827117;15714333;15489334;12477932;9704029;9362476;8125298;18029348;22422395;22943705;20876197 3790 C9J187;Q9BQ31 ABBA01018507;AC093731;AF043472;AK075088;AK225833;AK314451;AMYH01010143;AMYH01010144;BC004148;BC004987;BC015947;CH471053;NG_012873;NM_002252 AAC13164;AAH04148;AAH04987;AAH15947;AAX88969;ABM82038;ABM82041;ABM85218;BAG37059;EAX00861;EAX00862;NP_002243;Q9BQ31 Hs.414489 1699670;1796222 KCNS3_457;RH103440 KV9.3;MGC9481 OTTHUMP00000149986;OTTHUMP00000200487;Shab-related delayed-rectifier K+ channel alpha subunit 3;delayed-rectifier K(+) channel alpha subunit 3;potassium voltage-gated channel delayed-rectifier protein S3;potassium voltage-gated channel subfamily S member 3;voltage-gated potassium channel protein Kv9.3;voltage-gated potassium channel subunit Kv9.3 APPROVED protein-coding ENSG00000170745 6302 04865 603888 REVIEWED 1348220 KCNU1 potassium channel, subfamily U, member 1 8 8 8 p11.23 35592114 35743914 + 36761000 36912801 + 36641842 36793643 + 6480464 16421571;16382103;16344560;12477932;9452476;20379614;23129643;21901158;22747683 157855 A8MYU2;E5RGP7;E5RHP1;E5RJA6;E5RK72 ABBA01023575;ABBA01023576;AC090453;AC124076;AC138136;AK302391;AMYH01018647;BC028701;DB089392;DC401954;NM_001031836 A8MYU2;BAG63706;NP_001027006 Hs.13861 1665287;1706346;1716827;1786522 RH121708;SHGC-106159;SHGC-80739;WI-11522 KCNMC1;KCa5;KCa5.1;Kcnma3;Slo3 Calcium-activated potassium channel subunit alpha-3;Calcium-activated potassium channel, subfamily M subunit alpha-3;OTTHUMP00000225498;OTTHUMP00000225499;Slowpoke homolog 3;potassium channel subfamily U member 1 protein-coding ENSG00000215262 18867 615215 VALIDATED 731335 KCNV1 potassium channel, subfamily V, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008] 8 8 8 q23.2 107166854 107174580 - 111048409 111056135 - 110979233 110986959 - 1580863;6480464 8670833;16382104;14697513;12477932;12383276;9079713 27012 B4DMC1;Q6PIU1 AB032013;AB105051;ABBA01037718;ABBA01037719;AC027451;AF167082;AK297393;AK308123;AK313469;AMYH01018960;BC028739;CH471060;NM_014379 AAD48031;AAH28739;ABM83339;ABM86553;BAA92316;BAC85099;BAG36254;BAG59833;EAW91938;NP_055194;Q6PIU1 Hs.13285 2143596;2169307 RH36043;SHGC-16598 HNKA;KCNB3;KV2.3;KV8.1 OTTHUMP00000230578;neuronal potassium channel alpha subunit HNKA;potassium channel Kv8.1;potassium voltage-gated channel subfamily V member 1;voltage-gated potassium channel subunit Kv8.1 APPROVED protein-coding ENSG00000164794 18861 16293 608164 REVIEWED 1319524 KCNV2 potassium channel, subfamily V, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008] 9 9 p24.2 2707526 2719757 + 2717526 2730037 + 1580863;6480464;7240710 18708743;18400204;18235024;17896311;16909397;16382104;15489334;15164053;12477932;12107411;12060745;19952985;21402906;21911584;21900228;21558291;21882291;21757650;22005931;23221069;23143909;23115240;23251661;23077521 169522 Q8TDN2 ABBA01065439;AF348983;AK302215;AL354723;AMYH01019193;BC101352;BC101353;BQ638061;CH471071;EL952823;NG_012181;NM_133497 AAI01353;AAI01354;AAL83910;BAG63572;EAW58803;NP_598004;Q8TDN2 Hs.622675;Hs.624689;Hs.740173 KV11.1;Kv8.2;MGC120515;RCD3B OTTHUMP00000020986;potassium voltage-gated channel subfamily V member 2;voltage-gated potassium channel Kv8.2;voltage-gated potassium channel subunit Kv8.2 APPROVED protein-coding ENSG00000168263 19698 12126 607604;610356 REVIEWED 1345683 KCTD13 potassium channel tetramerization domain containing 13 16 16 16 p11.2 72859623 72879543 + 29825164 29845046 - 29917657 29937545 - 1302826;737633;1580863;6480464 11593007;12477932 15726626;16239304;16189514;15498874;15489334;14702039;12136098;21145461;22902628;16751776;19615732;19782033;22596160;21139048;21890473;21906983;18029348 253980 H3BM90;I3L108;I3L1U2;I3L3K4;Q8WZ19 ABBA01013111;AC120114;AF289573;AF401315;AJ328335;AK097407;AK289630;AMYH01007495;AY027918;BC036228;CH471238;NM_178863 AAH36228;AAK27301;AAL14962;AAL55757;ABM82481;ABM85668;BAF82319;EAW79969;EAW79970;NP_849194;Q8WZ19 Hs.534590 1676912;1678333;1681965;1697822;1730407;2187158;5019719;5093236;7186465 D16S2638;D16S425E;G32595;G32600;RH102436;RH67286;RH67291;RH78940 FKSG86;PDIP1;POLDIP1;hBACURD1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1;BTB/POZ domain-containing protein KCTD13;OTTHUMP00000163000;TNFAIP1-like protein;polymerase delta-interacting protein 1 APPROVED protein-coding ENSG00000174943 22234 12339 608947 VALIDATED 1315042 KCTD14 potassium channel tetramerization domain containing 14 11 11 11 q14.1 75035230 75042789 - 77404409 77411968 - 77726761 77734320 - 737633;1580863;6480464 12477932 15489334;21906983;21963094 65987 B2R9R8;Q9BQ13 ABBA01017416;AMYH01003825;AP003032;BC001062;BC001929;BU631809;CB993622;CH471076;NM_023930 AAH01062;AAH01929;ABM83668;ABM86914;EAW75043;EAW75044;NP_076419;Q9BQ13 Hs.709780 1678615;2147479 RH80555;WI-20939 MGC2376 BTB/POZ domain-containing protein KCTD14;OTTHUMP00000196643 APPROVED protein-coding ENSG00000151364 23295 13764 VALIDATED 1319755 KCTD12 potassium channel tetramerization domain containing 12 13 13 13 q22.3 58352296 58358541 - 76352305 76358541 - 77454304 77460540 - 737633;1580863;6480464 12477932 17353931;19336475;18347171;18210030;16344560;15489334;15357420;15345747;14702039;9110174;8889548;8619474;21145461;20386566;20562859;22863883;21275903;21139048;21628590;22053931 115207 Q96CX2 ABBA01021659;AC000403;AF052169;AF359381;AK057635;AK128363;AMYH01005222;BC013764;BU742274;CH471093;DB153209;NM_138444 AAH13764;AAQ15187;BAG54666;EAW80558;NP_612453;Q96CX2 Hs.644125 1738407;1739619;1847273;2115090;2117798;2121656;2127015;2138458;2153267;2163736;2171994 A002N08;D13S1209E;D13S1684;D13S668E;D13S831E;D13S844E;RH47229;RH78336;STS-D20072;STS-T94805;WI-17550 C13orf2;FLJ33073;KIAA1778;PFET1;PFETIN BTB/POZ domain-containing protein KCTD12;OTTHUMP00000018517;predominantly fetal expressed T1 domain APPROVED protein-coding ENSG00000178695 14678 11060 610521 VALIDATED 1347079 KCTD10 potassium channel tetramerization domain containing 10 12 12 12 q24.11 109510834 109539530 - 108370843 108399538 - 109886460 109915155 - 737633;6480464 12477932 15982757;21145461;19154347;19125419;15489334;14702039;8125298;20570916;18029348;18193043;19060906;19605566;19615732;20379614;20864672;22558309;16196087;20360068;22118674;22810651;21139048;21890473;21906983;21963094;19531213;19295130;22505724;23000965;23182705 83892 B3KVY5;F5GWA4;F5GWK6;F5GY15;F5H268;F5H497;F5H6V0;F5H729;F8W8I7;Q9H3F6 AB209358;ABBA01005069;AC007570;AF113208;AK027543;AK056912;AK092170;AK123733;AK222548;AK309783;AMYH01004737;AY205299;AY597809;BC040062;CH471054;NM_031954 AAG39279;AAH40062;AAO47716;AAT09002;BAB55188;BAD92595;BAD96268;BAG52491;BAG53947;EAW97860;EAW97861;EAW97862;EAW97863;EAW97864;NP_114160;Q9H3F6 Hs.524731 1667460;2158628;2164122;2172417;2172419;5024761;5037552 1036;A004Z12;D12S177E;D8S2279;RH36905;WI-15687;WI-16017 BTBD28;FLJ41739;MSTP028;ULRO61;hBACURD3 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3;BTB/POZ domain-containing protein KCTD10;OTTHUMP00000240540;OTTHUMP00000240544;OTTHUMP00000240545;OTTHUMP00000240550;OTTHUMP00000240551;potassium channel tetramerisation domain containing 10;potassium channel tetramerization domain-containing protein 10 APPROVED protein-coding ENSG00000110906 23236 13762 613421 PROVISIONAL 1316133 KCTD11 potassium channel tetramerization domain containing 11 17 17 17 p13.1 7281147 7284208 + 7195932 7198987 + 7255208 7258263 + 6480464 15489334;15249678;14702039;12477932;12186855;21472142;20081843;20591193;21237243 147040 Q693B1 ABBA01054860;AC026954;AK056227;AMYH01008078;AY646650;BC019929;BC063604;BC103744;BC110598;CH471108;NM_001002914 AAH19929;AAI10599;AAT75307;BAG51652;EAW90208;NP_001002914;Q693B1 Hs.592112 1335571;5493547 D17S960;UniSTS:487199 C17orf36;KCASH1;MGC129844;REN;REN/KCTD11 BTB/POZ domain-containing protein KCTD11;OTTHUMP00000162941;potassium channel tetramerization domain containing 11;retinoic acid, EGF, NGF induced gene protein;retinoic acid, EGF, NGF induced gene/potassium channel tetramerization domain containing 11 APPROVED protein-coding ENSG00000213859 21302 13763 609848 VALIDATED 1352985 KCTD1 potassium channel tetramerization domain containing 1 18 18 18 q11.2 20845489 21030918 - 22288872 22474306 - 24034874 24237365 - 6480464 19115315;15561718;15489334;15146197;12477932;11181995;21658281;20379614;23541344;17207965;19471022;21693764;16344560 284252 J3KQT5;J3KSG1;J3QLL6;J3QRK1;Q719H9 ABBA01022569;ABBA01022570;ABBA01022571;ABBA01022572;ABBA01022573;AC007996;AC012588;AC090206;AF542549;AK289870;AL831954;AMYH01008902;AMYH01008903;AMYH01008904;AMYH01008905;AW575702;BC042371;BC063652;BI667790;BI915955;BQ129398;BU153387;BX366041;CH471088;CN290475;DB285442;DN994590;NM_001136205;NM_001142730;NM_001258221;NM_001258222;NM_198991 AAH63652;AAQ09532;ADQ31963;BAF82559;EAX01222;EAX01223;EAX01224;EAX01225;EAX01226;NP_001129677;NP_001136202;NP_001245150;NP_001245151;NP_945342;Q719H9 Hs.526630 1336261;1342192;1649809;1655342;1673920;1694804;1709894;2118066;2128454;2145206;2191743 A007G23;D18S1038;D18S1235;D18S66;D18S819;G43629;IB525;MARC_6359-6360:997299586:3;RH18471;SHGC-84789;WI-22219 C18orf5;DKFZp451C132;SENS BTB/POZ domain-containing protein KCTD1;OTTHUMP00000162784;potassium channel tetramerisation domain containing 1;potassium channel tetramerization domain-containing protein 1 APPROVED protein-coding ENSG00000134504 18249 11059 181270;613420 VALIDATED 1313572 KCTD15 potassium channel tetramerization domain containing 15 19 19 19 q13.11 30981389 31000301 + 38979607 38996988 + 34287751 34306666 + 737633;1580863;6480464 12477932 15146197;19164386;19079261;19079260;15489334;15345747;15342556;14702039;8125298;16169070;17207965;20712903;20724581;20725061;20816152;20816195;19692490;19746409;19812171;19851340;19910641;19910938;20215397;20386550;20520848;20935630;20571754;20811636;19471022;21693764;23275563;23382213;23251661;23377640 79047 K7EIF1;K7EM48;K7EN63;K7EPF0;K7EQS3;Q96SI1 ABBA01004317;AC005615;AC008556;AI741557;AK025590;AK027901;AK096843;AK225793;AK291465;AK294543;AMYH01009707;AMYH01009708;BC001185;BC009335;BP339379;CN301512;CX752088;NM_001129994;NM_001129995;NM_024076 AAH01185;AAH09335;ADQ32680;BAB55443;BAF84154;BAG53375;BAG57750;NP_001123466;NP_001123467;NP_076981;Q96SI1 Hs.221873;Hs.606506 1656346;1677370;1679109;1773713;2121057;2174456;2176186 RH35892;RH78686;RH93829;RH98215;SHGC-32254;STS-Z40869;WI-13386 MGC25497;MGC2628 BTB/POZ domain-containing protein KCTD15;potassium channel tetramerisation domain containing 15;potassium channel tetramerization domain-containing protein 15 APPROVED protein-coding ENSG00000153885 23297 13765 615240 VALIDATED 1353287 KCTD17 potassium channel tetramerization domain containing 17 22 22 22 q12.3 21249109 21260760 + 35777562 35789376 + 37447779 37459430 + 737633;6480464 12477932 16189514;16344560;15489334;15342556;14702039;10591208;21145461;21903422;21044950;23222517 79734 B0QYB2;H0Y731;H7C323;Q8N5Z5 AA761637;ABBA01055459;AK022304;AK308720;AL022314;AMYH01012753;BC009961;BC025403;BC031038;BP362002;CH471095;DA258908;NM_024681 AAH25403;AAH31038;BAB14007;EAW60136;EAW60137;EAW60138;EAW60139;EAW60140;NP_078957;Q8N5Z5 Hs.517597 1847101 RH47858 FLJ12242;FLJ98761 BTB/POZ domain-containing protein KCTD17;OTTHUMP00000197756;OTTHUMP00000197757;OTTHUMP00000197758 APPROVED protein-coding ENSG00000100379 25705 07764 VALIDATED 1349783 KCTD19 potassium channel tetramerization domain containing 19 16 16 16 q22.1 51831659 51868918 - 65880894 65918162 - 67323393 67360661 - 14702039;12477932 146212 H3BVC0;J3KRQ9;J3KSZ9;J3QKV2;Q17RG1 ABBA01025434;AC009061;AC040160;AK097481;AK302567;AK302748;AMYH01007746;BC070103;BC094790;BC117335;NM_001100915 AAI17336;ADR83413;BAC05072;BAG63961;BAH13746;NP_001094385;Q17RG1 Hs.299127 1664481;1683094;1689684;5015961;5024039;5037552 D15S1477;D16S325;D8S2279;G09450;RH65202;RH92943 FLJ40162 BTB/POZ domain-containing protein KCTD19 APPROVED protein-coding ENSG00000168676 24753 PROVISIONAL 1348745 KCTD2 potassium channel tetramerization domain containing 2 17 17 17 q25.1 69636216 69648576 + 70554874 70573576 + 73043279 73061981 + 1580863;6480464 8619474;12620391;12477932;9110174;8724849;16751776;21145461;21130836;20360068;21906983 23510 H0Y3B9;J3QSC8;Q14681;Q8IYY2 ABBA01028818;ABBA01028819;AC087651;AC111186;AF055014;AK307083;AK310690;AMYH01008629;BC009633;BC033329;BC047910;BC072404;BC080561;BM906741;CH471099;D79998;DQ600691;NM_015353 AAH33329;AAI60142;BAA11493;EAW89230;NP_056168;Q14681 Hs.514468 1658301;1665620;1846939;2109447 A002O02;KCTD2_9357;RH78471;SHGC-31760 KIAA0176 BTB/POZ domain-containing protein KCTD2;potassium channel tetramerization domain-containing protein 2 APPROVED protein-coding ENSG00000180901 21294 17176 613422 VALIDATED 1320838 KCTD16 potassium channel tetramerization domain containing 16 5 5 5 q31.3 139631822 139938294 + 143530630 143837137 + 143550437 143856944 + 6480464 15489334;12477932;10718198;20379614;21890473;22053931 57528 A8K8W2;Q68DU8 AB037738;ABBA01026357;ABBA01026358;ABBA01026359;AC008383;AC008652;AC008716;AC010584;AC109441;AK292477;AMYH01015672;AMYH01015673;BC111962;BC113435;CR749266;NM_020768 AAI11963;AAI13436;ADR82992;BAA92555;BAF85166;CAH18122;NP_065819;Q68DU8 Hs.661870 1650748;1717179;1748643;1749567;1785582;2219848;7183772 D7S1511;KCTD16__6505;L28353;RH121512;SHGC-110302;SHGC-111264;SHGC-155132 DKFZp781A1155;KIAA1317;MGC138167 BTB/POZ domain-containing protein KCTD16;OTTHUMP00000223246;OTTHUMP00000223247;potassium channel tetramerization domain-containing protein 16 APPROVED protein-coding 29244 17175 613423 VALIDATED 1346294 KCTD18 potassium channel tetramerization domain containing 18 2 2 2 q33.1 195108519 195129627 - 201061926 201083037 - 201353681 201374792 - 6480464 15815621;15489334;14702039;12477932;21145461;21832049;21890473;23054586 130535 Q6PI47 ABBA01062515;AC012459;AK055884;AK095137;AK290867;AMYH01011399;BC045189;BC059366;BC067755;BU181789;CB960352;CH471063;NM_152387 AAH45189;AAH67755;AAY24308;AAY24309;BAB71035;BAF83556;EAW70203;EAW70204;EAW70205;EAW70206;NP_689600;Q6PI47 Hs.605775 1666001;1727139;5015404;5015861;5016478;5022322;5022578;5024413;7185938 D10S16;D11S2560;D1S1423;G62823;GDB:434012;L17705;L17877;RH69301 6530404F10Rik;FLJ31322;FLJ37818 BTB/POZ domain-containing protein KCTD18;OTTHUMP00000163669;OTTHUMP00000205959;potassium channel tetramerisation domain containing 18 APPROVED protein-coding ENSG00000155729 26446 08098 VALIDATED 1320472 KCTD20 potassium channel tetramerization domain containing 20 6 6 6 p21.31 37965608 38013359 + 36518522 36566297 + 36410544 36458319 + 6480464 21145461;15489334;14676191;14574404;12477932;20379614;21139048;21890473;21906983;21963094;22321011;22053931;23000965;23080069 222658 B4DIP9;C9J5B3;C9J624;C9JY11;F5H3T3;F8WF75;H7BXH0;Q7Z5Y7 ABBA01038257;ABBA01038258;ABBA01038259;ABBA01038260;AK295717;AK302861;AK304377;AK316456;AL049282;AL136135;AL832381;AMYH01016272;AMYH01016273;AY305862;BC023525;BC035879;CH471081;NM_173562;Z85986 AAH23525;AAP74385;BAG58561;BAG64045;BAG65215;BAH14827;CAH10583;EAX03892;EAX03893;NP_775833;Q7Z5Y7 Hs.188757 1649009;1687255;1721465;2152165;5015619;5022578;5037552;5118444 D11S3114;D11S3316;D1S1423;D8S2279;G59586;RH93519;WI-20909;WIAF-2103 C6orf69;MGC14254;dJ108K11.3 BTB/POZ domain-containing protein KCTD20;OTTHUMP00000016292;chromosome 6 open reading frame 69 APPROVED protein-coding ENSG00000112078 21052 12895 PROVISIONAL 1603870 KCTD21 potassium channel tetramerization domain containing 21 11 11 11 q14.1 75190768 75208148 - 77559943 77577312 - 77882298 77899664 - 6480464 21145461;15489334;14702039;12477932;21472142 283219 E9PJJ5;E9PK99;E9PM10;E9PMS5;E9PRT1;Q4G0X4 ABBA01017408;ABBA01017409;AK095233;AK300320;AMYH01003826;AP002985;BC036058;CH471076;NM_001029859 AAH36058;BAG62072;EAW75053;EAW75054;NP_001025030;Q4G0X4 Hs.528439 2114886;2182306 RH17478;SGC33037 KCASH2 BTB/POZ domain-containing protein KCTD21;OTTHUMP00000233063 APPROVED protein-coding ENSG00000188997 27452 18763 PROVISIONAL 1317853 KCTD6 potassium channel tetramerization domain containing 6 3 3 3 p14.3 58497720 58501753 + 58459132 58463119 + 58477823 58488087 + 737633;6480464 12477932 16344560;16303743;15489334;14702039;21145461;22573887;21472142;19615732;17207965;21139048 200845 F5H7I0;Q8NC69 AA721100;ABBA01024381;ABBA01024382;AC116036;AK027572;AK074934;AK075297;AMYH01013229;BC022893;CH471055;CQ783437;CQ783758;DA359951;NM_001128214;NM_153331 AAH22893;ADQ32205;BAC11301;BAC11531;BAG51347;CAF86641;CAF86847;EAW65374;NP_001121686;NP_699162;Q8NC69 Hs.13982 1674559;2219850;5015881;5017227;5109281 D1S1425;G38154;GDB:335751;KCTD6__6506;STS-W80381 KCASH3;MGC27385 BTB/POZ domain-containing protein KCTD6;OTTHUMP00000214221;OTTHUMP00000214222;OTTHUMP00000214223;OTTHUMP00000214224;OTTHUMP00000238332 APPROVED protein-coding ENSG00000168301 22235 13769 VALIDATED 5488959 KCTD9P1 potassium channel tetramerization domain containing 9 pseudogene 1 17 p11.2 20015137 20016300 + 100422273 ABBA01054588;AC007963;AMYH01008239;NG_026227;NG_029768 HsT38306 APPROVED pseudo 21428 INFERRED 1625839 KCTD9P2 potassium channel tetramerization domain containing 9 pseudogene 2 X X X q22.3 105124763 105128131 + 104536974 104540226 + 104650184 104653553 + 15772651;20029029 643535 ABBA01018934;AL121876;AL391071;AMYH01022814;NG_011074 1658153;1676346 DXS7627;RH66133 KCTD9L APPROVED pseudo 29274 INFERRED 1312748 KCTD5 potassium channel tetramerization domain containing 5 16 16 16 p13.3 2932069 2958601 + 2672499 2699032 + 2732495 2759031 + 737633;1580863;6480464 12477932 14702039;17353931;19361449;18573101;17239418;16501559;16344560;15489334;21145461;23184937;20360068;21139048;21890473;21906983;21988832;23398456;22505724;22952844 54442 H3BSS5;Q9NXV2 ABBA01026711;AC092117;AK000047;AMYH01007080;AMYH01007081;BC007314;CH471112;DA134449;NM_018992 AAH07314;BAA90906;EAW85488;EAW85489;EAW85490;EAW85491;NP_061865;Q9NXV2 Hs.61960 1768947;2110477;2112892;2125079 D16S3365;KCTD5_9784;RH66453;SHGC-64062 FLJ20040 BTB/POZ domain-containing protein KCTD5;OTTHUMP00000159182 APPROVED protein-coding ENSG00000167977 21423 13768 611285 VALIDATED 1353413 KCTD4 potassium channel tetramerization domain containing 4 13 13 13 q14.12 26823093 26831280 - 44664988 44673175 - 45766988 45775175 - 1580863;6480464 16344560;16189514;15489334;12477932 386618 Q8WVF5 ABBA01021218;AK290675;AL138693;AL138963;AMYH01005085;BC018063;BQ575935;CH471075;DA683655;DB557284;NM_198404 AAH18063;ABM86213;ABW03658;BAF83364;EAX08730;NP_940686;Q8WVF5 Hs.23406;Hs.693242 1849039;2111598;2111618;2175922 A004S30;D13S1542;D13S1557;WI-13796 bA321C24.3 BTB/POZ domain-containing protein KCTD4;OTTHUMP00000018343 APPROVED protein-coding ENSG00000180332 23227 13767 VALIDATED 4889171 KDELC1P1 KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1 5 5 q23.3 123576907 123578900 + 127444897 127446890 + 100144494 ABBA01068871;AC011332;AMYH01015604;NG_007523 pseudo 39193 INFERRED 1321690 KCTD3 potassium channel tetramerization domain containing 3 1 1 1 q41 188964556 189018971 + 213807358 213861772 + 215740735 215795149 + 6480464 21145461;15231747;16710414;15489334;14702039;12477932;10508479;19615732;22939629;16051665;21139048;21890473;21906983;17620599;19531213;21963094;22678362;23000965;23382386 51133 H0Y566;H0Y5P8;Q8WX16 ABBA01048130;ABBA01048131;AC092799;AK024547;AK055925;AK296275;AK316272;AL365315;AL833887;AL834389;AMYH01001727;BC013868;BC037896;BC094879;BC117188;BC126173;BC143963;CH471100;NM_016121 AAH13868;AAH37896;AAH94879;AAI17189;AAI26174;ADR83251;BAG51592;BAG58984;BAH14643;CAD38743;CAD39051;EAW93344;EAW93345;NP_057205;Q9Y597 Hs.335139 1652343;1671257;1736314;1740161;1767343;2147680 AL009561;D1S2043E;D1S2352;D1S2530;SHGC-76347;WI-16536 MGC43935;NY-REN-45 BTB/POZ domain-containing protein KCTD3;NY-REN-45 antigen;OTTHUMP00000035070;renal carcinoma antigen NY-REN-45 APPROVED protein-coding ENSG00000136636 21305 13766 613272 VALIDATED 1314738 KCTD7 potassium channel tetramerization domain containing 7 This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 7 7 7 q11.21 66008064 66022242 - 65731380 65743252 + 66093868 66108216 + 737633;1580863;6480464;7240710 12477932 17455289;16344560;15489334;14702039;12690205;21145461;15146197;16368877;8889548;21223598;22748208;22693283;21139048;22318606;22944692 154881 C9JTB6;E7ERJ8;E9PHB8;Q96MP8 AACC02000112;ABBA01048978;ABBA01048979;AC006001;AK055201;AK056631;AMYH01017491;BC042482;BU682845;BY795857;CH236961;CH471140;CN371295;DA493191;DB095774;NG_028110;NM_001167961;NM_153033 AAH42482;BAB71236;EAL23735;EAX07918;EAX07919;EAX07920;NP_001161433;NP_694578;Q96MP8 Hs.546627 1656162;1852069;2125590;2163088;2171158 GDB:1318635;GDB:4585276;GDB:4585394;RH78008;SHGC-8688 CLN14;EPM3;FLJ32069;FLJ45891 BTB/POZ domain-containing protein KCTD7;OTTHUMP00000159940;OTTHUMP00000210530;OTTHUMP00000210531 APPROVED protein-coding ENSG00000243335 21957 13770 611725;611726 REVIEWED 1323784 KCTD8 potassium channel tetramerization domain containing 8 4 4 4 p13 44623428 44899318 - 43871030 44145581 - 44175920 44450824 - 6480464 14702039;12477932;22216198;22930747;22939624;22952603;22156575 386617 H0Y9S2;Q6ZWB6 ABBA01014304;ABBA01014305;ABBA01014306;ABBA01014307;ABBA01014308;ABBA01014309;AC093861;AC131951;AK123347;AK298831;AMYH01014143;BC132743;BC136793;DB561746;NM_198353 AAI32744;AAI36794;ADR83369;BAC85588;BAG60961;NP_938167;Q6ZWB6 Hs.479644 1336202;1337121;1340217;1715395;1731920;1750111;1750625;1751359;1772780;1784972;2118544;2125094;2141387;2179302;2186623;2191433;7186889 D4S1547;D4S1627;D4S1639;D4S2295;D7S2647;MARC_21837-21838:1025100922:1;RH120530;SHGC-105209;SHGC-111916;SHGC-111979;SHGC-112243;SHGC-18275;SHGC-50887;SHGC-59732;SHGC-9448;WI-21522 BTB/POZ domain-containing protein KCTD8;OTTHUMP00000125257 APPROVED protein-coding ENSG00000183783 22394 13771 VALIDATED 1323768 KCTD9 potassium channel tetramerization domain containing 9 8 8 8 p21.1 24246240 24277531 - 25341280 25371837 - 25285363 25315984 - 737633;6480464 12477932 21145461;15489334;14702039;11483580;19032868;16344560;17207965;19322201;21139048;21890473;21906983;21963094;23376586 54793 K7ENB5;K7EQN1;Q7L273 ABBA01005564;AC103779;AF075015;AK000045;AK025995;AK298518;AL117436;AMYH01018582;BC021216;BC068518;BG249272;BQ022851;BU149129;CH471080;DA115324;NM_017634 AAH21216;AAH68518;ADQ32270;BAA90904;BAG60722;EAW63587;EAW63588;EAW63589;EAW63590;NP_060104;Q7L273 Hs.188763;Hs.72071 5037552 D8S2279 BTBD27;FLJ20038 BTB/POZ domain-containing protein KCTD9;OTTHUMP00000125275 APPROVED protein-coding ENSG00000104756 22401 13772 VALIDATED 1347684 KDELC2 KDEL (Lys-Asp-Glu-Leu) containing 2 11 11 11 q22.3 105497757 105524083 - 107848043 107874369 - 108342833 108369159 - 737633;6480464 12477932 15489334;14702039;12975309;21906983 143888 H0YEM3;Q7Z4H8 ABBA01039865;AF533708;AI628702;AK098206;AK123743;AK125519;AK313534;AMYH01004022;AP005718;AY358616;BC036526;BX648867;CH471065;DN999478;NM_153705 AAH36526;AAQ09021;AAQ88979;BAC05260;BAC86191;BAG36311;EAW67119;EAW67120;NP_714916;Q7Z4H8 Hs.83286 1643826;1689791;1847288;1847290;2121117;2154996;5015619;5022578;5024039;5037552 A006G13;D11S2231E;D11S2251E;D11S3114;D16S325;D1S1423;D8S2279;G20783;RH27238;RH36602 MGC33424 KDEL motif-containing protein 2;OTTHUMP00000233300;OTTHUMP00000233301 protein-coding ENSG00000178202 28496 13773 VALIDATED 1312273 KDELC1 KDEL (Lys-Asp-Glu-Leu) containing 1 This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q33 84281120 84295885 - 102234632 102249358 - 103436631 103451404 - 6480464 16344560;15635705;15489334;15057823;12975309;12477932;11167020;8125298;21145461;22505724 79070 Q6UW63 ABBA01027070;AK074974;AK222567;AK225103;AK309238;AL157769;AMYH01005341;AY358959;BC001297;BC051860;CH471085;DA885954;DB204842;NM_024089 AAH01297;AAQ89318;ABM82133;ABM85316;BAD96287;EAX09067;EAX09068;EAX09069;NP_076994;Q6UW63 Hs.408629 1737481 D13S1028 EP58;KDEL1;MGC5302 ER protein 58;ERp58;KDEL motif-containing 1;KDEL motif-containing protein 1;OTTHUMP00000018674;endoplasmic reticulum resident protein 58 APPROVED protein-coding ENSG00000134901 19350 11061 611613 REVIEWED 1323044 KDELR3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13.1 22669670 22685024 + 37194029 37209391 + 38864083 38879445 + 1580863;6480464;6907045 15489334;15461802;12529303;12477932;10591208;9118249;8125298;21139048;11827452 11015 O43731 ABBA01055520;AI753246;AK129888;AK222930;AK223238;AK292102;AL035081;AL035082;AMYH01012764;BC001277;BC096722;BC098131;BC098156;BC098336;BU621350;CH471095;CR456509;CS300667;NM_006855;NM_016657;Z97056 AAH01277;AAH96722;AAH98131;AAH98156;AAH98336;ABM82666;ABM85843;BAD96650;BAD96958;BAF84791;CAA22673;CAA22674;CAG30395;CAK32331;CAK54539;CAK54838;EAW60237;EAW60238;EAW60239;EAW60240;NP_006846;NP_057839;O43731 Hs.745072 1648103;1684321;2120896;2128524;2148806;2158389;2170828 1574;D22S1199;D22S1255;D22S314E;D22S996E;RH28487;STS-W80852 ERD2L3 ER lumen protein retaining receptor 3;KDEL endoplasmic reticulum protein retention receptor 3;KDEL receptor 3;OTTHUMP00000204024;OTTHUMP00000204025 APPROVED protein-coding ENSG00000100196 6306 17177 REVIEWED 1315569 KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008] 19 19 q13.3 53577639 53586622 - 48885827 48894810 - 1580863;6480464;6484113;6907045 2172835;17353931;15308636;15489334;12975382;12821650;12761501;12477932;11703931;10708517;9405360;9118249;8392934;1310258;22580821;22990118;21684323;21139048;21890473;22363504 10945 M0R1Y2;P24390;Q8NBW7 AB097047;ABBA01032998;AC011514;AK075185;AK312647;AMYH01009900;BC008958;BC018778;CH471177;NM_006801;X55885 AAH08958;AAH18778;ABM82918;ABM86108;BAC11457;BAC77400;BAG35531;CAA39371;EAW52340;EAW52341;EAW52342;EAW52343;EAW52344;EAW52345;NP_006792;P24390 Hs.515515 1649833;1769578 WI-19271;WI-9028 ERD2;ERD2.1;HDEL;PM23 ER lumen protein retaining receptor 1;KDEL endoplasmic reticulum protein retention receptor 1;KDEL receptor 1;putative MAPK-activating protein PM23 APPROVED protein-coding ENSG00000105438 6304 00569 131235 REVIEWED 1346422 KDM1A lysine (K)-specific demethylase 1A This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 1 1 p36.12 23218533 23282771 + 23345941 23410184 + 737633;6480464;6484113 12477932 19497860;19223552;19124609;19052240;18806873;18391013;18343668;18216119;18197256;17805299;17687328;17537733;17529991;17511474;17504018;17409384;17367163;17277772;16987819;16956976;16914725;16885027;16799558;16710414;16531230;16223729;16169070;16140033;16079795;16079794;15811342;15620353;15489334;14702039;12493763;12032298;11102443;9628581;9179496;11171972;9804427;15325272;17145880;17081983;21510664;20360068;20389281;21531005;20562920;20448663;19242095;20189264;20616235;18573881;18625718;19394292;20333681;17643375;18156491;19522008;19703393;19880879;19896696;19934284;20042638;20127736;20164337;20228790;20331966;17634443;17967884;21098664;18501190;21142040;22990118;23022380;17289570;21300290;21602794;20585571;20603083;20547759;22310283;22939629;17043677;21400613;21903422;21937684;17707228;20833138;20856864;21115810;22558309;23354309;23455924;23752268;21987572;19471022;21139048;21549307;21693764;21890473;21906983;21975933;22143567;22068108;22278882;22318606;22354994;22542627;22586326;21252943;21320024;21670149;22493729;22464800;15561718;18247557;22245111;22802671;22912744;23015317;23072722;23592795;21258344;21963094;22399799;23000965;23349634;21876670;22067449;22169281;22505724;22797925;23011797;22534796;23054398;23178685;22447389;23275444 23028 F6S0T5;Q96AW4;R4GMP9;R4GMQ1 AA664447;AB011173;ABBA01059860;ABBA01059861;AK128669;AK290328;AL031428;AL833812;AMYH01000356;BC016639;BC025362;BC040194;BC048134;BG717076;BQ006926;CH471134;HI929453;HI964241;NM_001009999;NM_015013 AAH16639;AAH25362;AAH40194;AAH48134;BAA25527;BAF83017;CAD38675;CBY79414;CBY88366;EAW95031;EAW95032;EAW95033;NP_001009999;NP_055828;O60341 Hs.591518 1662286;1662845;1677266;1727929;1847438;2140207;2149024;2169619;2173274;2181323;2185948 AFMa129zb5;AL009553;AL009905;G63383;RH63847;RH69757;RH98397;SHGC-33933;SHGC-33968;SHGC-74369;SHGC-74372 AOF2;BHC110;KDM1;KIAA0601;LSD1;RP1-184J9.1 BRAF35-HDAC complex protein BHC110;FAD-binding protein BRAF35-HDAC complex, 110 kDa subunit;OTTHUMP00000003255;OTTHUMP00000003256;amine oxidase (flavin containing) domain 2;flavin-containing amine oxidase domain-containing protein 2;lysine (K)-specific demethylase 1;lysine-specific histone demethylase 1;lysine-specific histone demethylase 1A APPROVED protein-coding ENSG00000004487 29079 09800 609132 REVIEWED 1312161 KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6211338 6234431 + 6467237 6490374 - 6500712 6523849 - 1580863;6480464;6907045 1316805;17353931;1325562;16344560;15489334;14702039;12853948;12690205;12477932;12071860;11752456;9118249;19322201;21139048 11014 H7BYF7;P33947 AACC02000122;ABBA01056488;ABBA01056489;ABBA01056490;ABBA01056491;ABBA01056492;AC072052;AK093917;AK124072;AK315702;AL547016;AMYH01017038;AV660600;BC008081;BC012994;BC071982;CH236963;CH878731;DA713413;M88458;NM_001100603;NM_006854;X63745 AAH08081;AAH12994;AAH71982;AAS02002;ABM83805;ABM87127;BAG38064;CAA45277;EAL23722;EAW55029;EAW55030;EAW55031;NP_001094073;NP_006845;P33947 Hs.654552 1647178;1647399;1651784;1675626;1735682;1849023;2120499;2141265;2175019;2176762;2181676 A002F46;A002G37;D7S2139E;D7S2246;D7S2768;D7S2873;RH48479;RH91356;SHGC-53741;SHGC-55953;STS-T98803 ELP-1;ERD2.2;FLJ45532 (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2;ER lumen protein retaining receptor 2;ERD-2-like protein;ERD2-like protein 1;KDEL endoplasmic reticulum protein retention receptor 2;KDEL receptor 2;OTTHUMP00000024721;OTTHUMP00000214029 APPROVED protein-coding ENSG00000136240 6305 06598 609024 REVIEWED 1320989 KDM2B lysine (K)-specific demethylase 2B This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 121504570 121659235 - 120351282 120503272 - 121866899 122018920 - 737633;1580863;6480464 12477932 10799292;16943429;17994099;17704768;17672918;22825849;16362057;15520277;15489334;15302935;14702039;20379614;19202064;20211142;22086844;21252908;19471022;21139048;21693764;22325352;22581228;20682791 84678 F5GXC2;F5GXW2;F5H0A1;F5H1E0;F5H4A7;F5H4X4;F5H5W7;F5H6N6;F5H7T7;F8WBN2;Q1RLM7;Q8NHM5 AA504464;AB031230;ABBA01020163;ABBA01020164;ABBA01020165;ABBA01020166;ABBA01020167;ABBA01020168;ABBA01020169;ABBA01020170;ABBA01020171;ABBA01020172;ABBA01020173;ABBA01020174;AC048337;AC073650;AC145422;AJ459424;AK027440;AK027692;AK074718;AK097933;AK127328;AK299827;AK316470;AL133572;AMYH01004812;AMYH01004813;AMYH01004814;BC008735;BC028612;BC115379;BC115380;BX648928;CA430876;CH471054;NM_001005366;NM_032590 AAH08735;AAI15380;AAI15381;BAA97672;BAB55112;BAB55301;BAC11159;BAG54483;BAG61696;BAH14841;CAB63721;CAD30700;EAW98266;EAW98267;EAW98268;NP_001005366;NP_115979;Q8NHM5 Hs.524800 1660000;1674783;1676374;1700028;1724449;2129499;2178029;2179505;5014051;5015861;5015961;5020274;5021872;5037552;5109281;7185938 D10S16;D15S1477;D1S1425;D8S2278;D8S2279;G15664;G29079;L18441;RH103626;RH122387;RH94276;SGC31344;SGC34424;SHGC-56772;sY3084 CXXC2;FBXL10;Fbl10;JHDM1B;PCCX2 CXXC-type zinc finger protein 2;F-box and leucine-rich repeat protein 10;F-box protein FBL10;F-box/LRR-repeat protein 10;JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein;OTTHUMP00000240026;OTTHUMP00000240027;[Histone-H3]-lysine-36 demethylase 1B;jmjC domain-containing histone demethylation protein 1B;jumonji C domain-containing histone demethylase 1B;jumonji domain-containing EMSY-interactor methyltransferase motif protein;lysine-specific demethylase 2B;protein containing CXXC domain 2;protein-containing CXXC domain 2 APPROVED protein-coding ENSG00000089094 13610 12362 609078 REVIEWED 1321760 KDM1B lysine (K)-specific demethylase 1B Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009] 6 6 6 p22.3 19393595 19462052 + 18263598 18332063 + 18155619 18224084 + 6480464 16344560;15489334;14702039;14574404;12477932;7566098;19407342;19615732;19727073;20670891;19815555;20805357;21139048;21890473;21906983 221656 F2Z2A7;H0Y6H0;J3KPL2;Q08EI0;Q8NB78 AA332652;ABBA01022233;ABBA01022234;AJ420481;AK091217;AK125318;AL031774;AL589723;AMYH01016122;BC113093;CH471087;CR627410;DA099422;NM_153042 AAI13094;BAC03612;BAC86124;CAH10499;EAW55400;EAW55401;NP_694587;Q8NB78 Hs.709336 1699132;2114892;2125785;2170074;5093186;5109281 A009J06;D1S1425;G31479;G32571;RH103142;SHGC-36399 AOF1;C6orf193;DKFZp686I0412;FLJ33898;FLJ34109;FLJ43328;LSD2;bA204B7.3;dJ298J15.2 OTTHUMP00000179124;OTTHUMP00000179125;amine oxidase (flavin containing) domain 1;amine oxidase, flavin containing 1;flavin-containing amine oxidase domain-containing protein 1;lysine-specific histone demethylase 1B;lysine-specific histone demethylase 2 APPROVED protein-coding ENSG00000165097 21577 18524 613081 VALIDATED 1319753 KDM2A lysine (K)-specific demethylase 2A This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 11 11 q13.2 66644074 66781717 + 66886740 67025553 + 1580863;6480464 15070733;19001877;17081983;16362057;15635413;15489334;15231748;14702039;12477932;12168954;11214971;10945468;10531037;10531035;10231032;19805303;20080798;20379134;20417597;21251613;20936779;16147992;22635273;19850743;21029866;21187428;21609845;22083960;22100412;21139048;21890473;19322201;20682791;21988832;23074094;23537643 22992 I3VM53;Q9UK66 AB023221;AB490246;ABBA01024044;ABBA01024045;ABBA01024046;ABBA01024047;AF179221;AI185920;AK022684;AK024505;AK128293;AK299725;AL117517;AMYH01003740;AMYH01003741;AP000729;AP001885;BC001203;BC027467;BC047371;BC047486;BC056905;BC064360;BE675843;CH471076;DR001963;JQ710741;JQ710742;JQ710743;JQ710744;NM_001256405;NM_012308;NR_027473 AAD56012;AAH01203;AAH47371;AAH47486;AAH64360;AFK81540;AFK81541;AFK81542;AFK81543;BAA76848;BAB15795;BAG61623;BAJ05817;CAH10721;EAW74578;EAW74579;EAW74580;NP_001243334;NP_036440;Q9Y2K7 Hs.124147 1650151;1654155;1745977;1857399;2127575;2128250;2132111;2140425;2143444;2143531;2144602;2167129;2168574;2191303;5094928 AFMA190YD5;D11S4540;FBXL11;G09895;MARC_17215-17216:1023895331:5;RH12099;RH124989;RH18199;RH44634;RH45252;RH65398;STS-H69553;STS-N24829;STS-R06543;STS-Z40471 CXXC8;DKFZp434M1735;FBL11;FBL7;FBXL11;FLJ00115;FLJ46431;JHDM1A;KIAA1004;LILINA;SF-KDM2A CXXC-type zinc finger protein 8;F-box and leucine-rich repeat protein 11;F-box protein FBL11;F-box protein FBL7;F-box protein Lilina;F-box/LRR-repeat protein 11;OTTHUMP00000235168;OTTHUMP00000235169;[Histone-H3]-lysine-36 demethylase 1A;jmjC domain-containing histone demethylation protein 1A;jumonji C domain-containing histone demethylase 1A;lysine-specific demethylase 2A APPROVED protein-coding 13606 05741 605657 REVIEWED 6766693 KDM4A-AS1 KDM4A antisense RNA 1 1 p34.1 44165395 44173012 - 12477932 100132774 ABBA01050946;AL451062;AMYH01000562;BC073819;BC094867;NR_033827 Hs.655569 1338740;1689482;1848081;2164980;5022200;5022639;5108775;5118444 D11S2808;D11S3316;D11S4192;D3S1674;L18426;RH35886;RH79804;SGC34395 APPROVED miscrna 40528 VALIDATED 1346048 KDM3A lysine (K)-specific demethylase 3A This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 2 2 p11.2 86521865 86573350 + 86668271 86719839 + 1580863;6480464 16603237;18984585;18713068;18538129;22020899;22318606;22318714;22645302;16344560;15815621;15489334;15302935;14702039;12477932;9872452;19471969;19615732;19858293;20042601;20127736;20378615;16619273;20823141;21275466;21607773;17991879;21541331;23546878;21282530;23455924;23576503;21139048;21890473;21906983 55818 C9J7Q7;C9JC73;F5H070;F8WE62;Q9Y4C1 AB018285;ABBA01075782;ABBA01075783;AC068288;AI911797;AK074314;AK125045;AK304276;AL832150;AMYH01010498;AMYH01010499;BC038297;BG723267;BX537674;BX640698;BX647271;BX647752;BX648841;BX649109;CH471053;CR749581;DB087171;DB453517;NM_001146688;NM_018433 AAI56519;AAI72547;AAY24210;BAA34462;BAG65137;CAE45820;CAH18373;CAH18459;EAW99453;EAW99454;EAW99455;EAW99456;NP_001140160;NP_060903;Q9Y4C1 Hs.557425 1650411;1688090;1856993 RH69600;RH77990;RH92486 DKFZp686A24246;DKFZp686P07111;JHDM2A;JHMD2A;JMJD1;JMJD1A;KIAA0742;TSGA OTTHUMP00000160707;OTTHUMP00000203309;jmjC domain-containing histone demethylation protein 2A;jumonji C domain-containing histone demethylase 2A;jumonji domain containing 1;jumonji domain containing 1A;jumonji domain-containing protein 1A;lysine-specific demethylase 3A;testis-specific protein A APPROVED protein-coding ENSG00000115548 20815 11054 611512 REVIEWED 1314960 KDM4A lysine (K)-specific demethylase 4A This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009] 1 1 p34.1 43888384 43943776 + 44115797 44171189 + 1580863;6480464 21555854;16024779;17567753;18029348;19144645;18084306;17611647;17589523;17589501;17555712;16732292;16710414;16677698;16603238;16601153;16415788;16094384;15927959;15489334;15342556;15146197;15138608;12477932;9734811;8889548;14527417;19615732;17207460;21228229;21148561;20574068;21757720;21768309;22373579;17190600;21400613;22322875;21890473;21962223;21931800;21963094;23168260;22134899;22959728;22505724;23678541;22948256 9682 B4DT38;O75164 AB014577;ABBA01050946;ABBA01050947;AC092815;AK294596;AK300039;AK310295;AL451062;AMYH01000562;BC002558;BP198064;CA944984;CH471059;CN361683;NM_014663;Z70219 AAH02558;BAA31652;BAG57784;BAG61850;EAX07085;NP_055478;O75164 Hs.155983 1689482;1719927;1848081;2164980;2219838 JMJD2A__6488;RH123656;RH35886;RH79804;SGC34395 JHDM3A;JMJD2;JMJD2A;KIAA0677;TDRD14A OTTHUMP00000008810;jmjC domain-containing histone demethylation protein 3A;jumonji C domain-containing histone demethylase 3A;jumonji domain containing 2;jumonji domain containing 2A;jumonji domain-containing protein 2A;lysine-specific demethylase 4A;tudor domain containing 14A APPROVED protein-coding ENSG00000066135 22978 17168 609764 REVIEWED 1343523 KDM3B lysine (K)-specific demethylase 3B 5 5 5 q31 133809116 133893549 + 137716184 137800615 + 137688285 137772716 + 6480464 17081983;16603237;15635413;15489334;15302935;15138608;12477932;12168954;11687974;11161817;11087669;10737800;10470851;20400511;18029348;19615732;20379614;21102462;23383273;22863883;19471022;21139048;21693764;21890473;21906983;22318606;22615488;19322201;22505724 51780 F5H275;H0Y946;H0Y9V5;Q7LBC6 AB029005;ABBA01068673;ABBA01068674;ABBA01068675;ABBA01068676;ABBA01068677;ABBA01068678;ABBA01068679;ABBA01068680;ABBA01068681;AC104116;AC113403;AF251039;AF338242;AK025755;AK304371;AMYH01015642;BC000539;BC001202;BC073869;BC117693;BC146788;BG390435;BI037147;BU149311;BU506660;BU752879;CH471062;NM_016604;W28844 AAF63765;AAH00539;AAH01202;AAI17694;AAI46789;AAK13499;BAA83034;BAG65210;EAW62141;EAW62142;NP_057688;Q7LBC6 Hs.744155 1671338;1675905;1774116;1847924;2121832;5017706 D5S1701;JMJD1B;RH36167;RH68817;RH78329;RH93228 5qNCA;C5orf7;JMJD1B;KIAA1082;NET22 OTTHUMP00000224009;jmjC domain-containing histone demethylation protein 2B;jumonji domain containing 1B;jumonji domain-containing protein 1B;lysine-specific demethylase 3B;nuclear protein 5qNCA protein-coding ENSG00000120733 1337 11055 609373 VALIDATED 2311613 KDM4E lysine (K)-specific demethylase 4E 11 11 11 q21 92046235 92048573 + 94398370 94404103 + 94758422 94760760 + 12477932;23092293;21076780 390245 B2RXH2 ABBA01040020;AMYH01003965;AP002383;BC157851;BC157889;BC171916;NM_001161630 AAI57852;AAI57890;AAI71916;B2RXH2;NP_001155102 Hs.714692 JMJD2E;KDM4DL;MGC189713;MGC189746;MGC198631 KDM4D-like protein;OTTHUMP00000237078;lysine (K)-specific demethylase 4D-like;lysine-specific demethylase 4D-like;lysine-specific demethylase 4E APPROVED protein-coding ENSG00000235268 37098 VALIDATED 6481130 KDM5C-IT1 KDM5C intronic transcript 1 (non-protein coding) 100874299 AL139396 miscrna 41384 1316776 KDM4C lysine (K)-specific demethylase 4C This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein with one JmjC domain, one JmjN domain, two PHD-type zinc fingers, and two Tudor domains. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form. Chromosomal aberrations and increased transcriptional expression of this gene are associated with esophageal squamous cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 9 9 p24.1 6747654 7165648 + 6720863 7175648 + 6480464 19339270;18927281;18713068;18649358;17611647;17277772;16732293;16603238;20889312;16344560;15489334;15164053;15138608;12477932;10987278;9872452;17207460;20923822;18066052;19784073;20127736;20379614;20410850;17403666;23129632;21575637;21637537;22072270;23067339;23148692;21890473;23149075;23251661 23081 B0QZ60;B4E142;B4E239;B7Z3V6;C9J879;E7EV17;F5GYH2;F8WCN1;Q5VYJ2 AB018323;AB037901;ABBA01065377;ABBA01065378;ABBA01065379;ABBA01065380;ABBA01065381;ABBA01065382;ABBA01065383;ABBA01065384;AF085959;AI017056;AK296401;AK303651;AK304032;AK304095;AK310439;AK314355;AL137020;AL161443;AL354707;AL445592;AL513412;AMYH01019211;AMYH01019212;BC008296;BC036628;BC053678;BC060771;BC104859;BC104861;BC143571;BX111090;CH471071;DA470476;NM_001146694;NM_001146695;NM_001146696;NM_015061 AAI04860;AAI04862;AAI43572;BAA34500;BAB16102;BAG64654;BAG64946;BAG65001;BAH12342;EAW58730;EAW58731;EAW58732;EAW58733;EAW58734;NP_001140166;NP_001140167;NP_001140168;NP_055876;Q9H3R0 Hs.709425 1334628;1647311;1651562;1651564;1677686;1681163;1684383;1685179;1688755;1703234;1703468;1706414;1707044;1767453;1787054;1789100;1793360;1850150;2107237;2119876;2124052;2131738;2154474;2154490;2160504;2181076;2185252 A005A28;CHLC.GGAT12H06;D9S1741;D9S1988;D9S281;G20220;G29179;G65684;JMJD2C__6490;PMC21334P2;RH11993;RH78744;RH80446;RH80582;RH92434;RH93868;RH98875;SGC32195;SGC38281;SHGC-154051;SHGC-80784;SHGC-81035;SHGC-82577;STS-H68313;WI-12612;WI-17067;WI-18118 FLJ25949;GASC1;JHDM3C;JMJD2C;KIAA0780;TDRD14C;bA146B14.1 GASC-1 protein;JmjC domain-containing histone demethylation protein 3C;OTTHUMP00000021052;OTTHUMP00000021053;gene amplified in squamous cell carcinoma 1 protein;jumonji domain containing 2C;jumonji domain-containing protein 2C;lysine-specific demethylase 4C;tudor domain containing 14C APPROVED protein-coding ENSG00000107077 17071 12016 605469 REVIEWED 1349901 KDM4B lysine (K)-specific demethylase 4B 19 19 p13.3 4920132 5104606 + 4969124 5153609 + 1580863;6480464 21445275;22745382;18984585;18713068;17611647;16603238;16344560;15927959;15489334;15302935;15138608;15057824;12477932;12168954;10737800;10048485;9110174;8619474;23455924;23589305;21502505;20682797;16169070;20379614;23046878;22939629;21906983;21930796;22133676;22505724;22770241 23030 F5GX28;K7EQ54;K7ES23;O94953 AB020683;ABBA01056026;ABBA01056027;ABBA01056028;ABBA01056029;ABBA01056030;AC005595;AC022517;AC053467;AC093033;AC104520;AF052144;AK026040;AK126854;AL133622;AMYH01009349;AMYH01009350;AMYH01009351;AMYH01009352;BC015378;BC040014;BC046167;BC063889;BC136611;BC144292;BF917212;CH471139;DA379611;DB636535;NM_015015 AAF31271;AAH63889;AAI36612;AAI44293;BAA74899;BAG54381;CAB63748;EAW69180;EAW69181;EAW69182;EAW69183;NP_055830;O94953 Hs.654816 1783810;2122383;2150252;2185760;5022651;5024039 D11S2921;D16S325;D19S1137;RH65659;SHGC-149629;WI-15786 FLJ44906;JMJD2B;KIAA0876;TDRD14B jmjC domain-containing histone demethylation protein 3B;jumonji domain containing 2B;jumonji domain-containing protein 2B;lysine-specific demethylase 4B;tudor domain containing 14B protein-coding ENSG00000127663 29136 11056 609765 VALIDATED 2794502 KDM5DP1 lysine (K)-specific demethylase 5D pseudogene 1 Y Y Y q11.221 7438525 7439399 - 21140864 21141938 - 22731576 22732450 - 12815422;9847074 359796 ABBA01057455;AC007678;NG_002818 SMCYP pseudo 23976 INFERRED 1322449 KDM5B lysine (K)-specific demethylase 5B 1 1 q32.1 200963155 201044172 - 202696532 202777549 - 1580863;6480464 12657635;10336460;19536175;19336002;18048344;17973255;17709396;17373667;17363312;16541399;15640446;14702039;12237901;11483573;11478881;10878660;22669717;20832725;15803180;19615732;20226085;20478252;19242095;20403335;18029348;20863814;16645588;21105039;21980403;21369698;21821892;21969366;21937684;21987572;22152480;19322201;22615382;19471022;21502505;22371483;21139048;21693764;21890473;21906983;21963094;22318606;19389623;23408432;23262439;22505724 10765 B3KV94;Q9UFD3;Q9UGL1;R4GN45 AB015348;ABBA01027495;ABBA01027496;ABBA01027497;AC098934;AC104463;AF087481;AJ132440;AJ243706;AK001400;AK022521;AK022553;AK074250;AK122752;AK125746;AL133040;AL133048;AL133072;AL137622;AMYH01001651;AMYH01001652;AY370676;CF593335;CH471067;NM_006618 AAD16061;AAI56050;AAI57032;AAQ82849;BAA34803;BAG50904;BAG51084;BAG51090;BAG53706;CAB43532;CAB61368;CAB61375;CAB61395;CAB63108;CAB70847;EAW91432;EAW91433;EAW91434;EAW91435;NP_006609;Q9UGL1 Hs.443650 1674571;1681732;1715043;1765619;1855388;2142994;2175520;2180542;2217502 AL009885;D1S1875E;JARID1B_3532;RH120083;RH12289;RH69432;SHGC-149068;SHGC-32074;SHGC-76133 CT31;FLJ10538;FLJ12459;FLJ12491;FLJ16281;FLJ23670;JARID1B;PLU-1;PLU1;PUT1;RBBP2H1A OTTHUMP00000038815;OTTHUMP00000038816;OTTHUMP00000197658;RBP2-H1;RBP2-like;cancer/testis antigen 31;histone demethylase JARID1B;jumonji, AT rich interactive domain 1B;jumonji, at rich interactive domain 1b (rbp2-like);jumonji/ARID domain-containing protein 1B;lysine-specific demethylase 5B;putative DNA/chromatin binding motif;retinoblastoma-binding protein 2 homolog 1;retinoblastoma-binding protein 2, homolog 1A protein-coding ENSG00000117139 18039 09251 605393 VALIDATED 1353550 KDM4D lysine (K)-specific demethylase 4D 11 11 11 q21 91994632 92020465 + 94346493 94372326 + 94706845 94732678 + 6480464 21145461;18951430;17555712;16603238;16554811;15489334;15138608;14702039;12477932;8889548;17207460;22514644;21382349;23219879 55693 Q6B0I6 ABBA01040022;AK001113;AK056162;AL137545;AMYH01003965;AP002383;AW593120;BC031862;BC074739;BC119010;BC122858;CA311555;CH471065;NM_018039 AAH74739;AAI19011;AAI22859;BAA91508;BAG51636;CAB70803;EAW66952;NP_060509;Q6B0I6 Hs.503598 5492667 UniSTS:481960 FLJ10251;JMJD2D;MGC141909 OTTHUMP00000237034;jmjC domain-containing histone demethylation protein 3D;jumonji domain containing 2D;jumonji domain-containing protein 2D;lysine-specific demethylase 4D protein-coding ENSG00000186280 25498 17169 609766 VALIDATED 1349337 KDM5C lysine (K)-specific demethylase 5C This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] X X p11.22-p11.21 53237378 53271329 - 53220503 53254604 - 6480464;6907133;6907137;7240710 22035299;21654818 16964243;16538222;17320160;19346402;18697827;18078810;17468742;17081983;16541399;16344560;15772651;15586325;15302935;14660691;12477932;8162017;7951230;17320161;19826449;20054297;20538609;22939629;21252943;21725364;21996408;21575681;21963094;22326837;22611640;15840729;21139048;21890473;23246292 8242 B0QZ44;F8W7H7;F8WDK1;F8WF56;P41229 ABBA01056384;ABBA01056385;ABBA01056386;ABBA01056387;ABBA01056388;ABBA01056389;ABBA01056390;AI221739;AK304732;AK308077;AL139396;AMYH01022421;AMYH01022422;BC047751;BC054499;BI711169;CH471154;DB229140;EF613277;L25270;NG_008085;NM_001146702;NM_004187;Z29650 AAA61302;AAH54499;ABR13544;ABZ92271;ACE86790;ACE87476;BAG65494;CAA82758;EAW93145;EAW93146;NP_001140174;NP_004178;P41229 Hs.631768 1644355;1675469;1681370;1684768;1728913;1793600;1794322;5093828;5109463;5492131 A009X24;DXS1272E;G32947;G42695;PMC24149P1;PMC311008P3;RH80792;RH81091;RH93069;Smcx DXS1272E;JARID1C;MRXJ;MRXSCJ;MRXSJ;SMCX;XE169 JmjC domain-containing protein SMCX;Jumonji, AT rich interactive domain 1C (RBP2-like);Jumonji/ARID domain-containing protein 1C;OTTHUMP00000023342;OTTHUMP00000023343;OTTHUMP00000023344;OTTHUMP00000197652;Smcx homolog, X chromosome;Smcy homolog, X-linked;histone demethylase JARID1C;jumonji, AT rich interactive domain 1C;lysine-specific demethylase 5C;protein SmcX;selected cDNA on X;smcy homolog, x-linked (mouse) APPROVED protein-coding ENSG00000126012 11114 02442 300534;314690 REVIEWED 1346764 KDM5D lysine (K)-specific demethylase 5D This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Y Y q11 20326689 20366212 - 21867301 21906825 - 6480464 17320160;19223392;18459961;17320162;16988213;16344560;15613541;14702039;14660691;12815422;12477932;10861003;10747295;9798702;9678364;9143681;9060413;9039502;8841177;7667640;7524912;16541399;19541808;21890473;21963094;20301513 8284 B4E1Y0;C9JGA3;E9PFH2;H7BZF9;Q9BY66 AA864889;ABBA01073781;ABBA01073782;ABBA01073783;ABBA01073784;ABBA01073785;ABBA01073786;AC010889;AF134849;AF273841;AK095923;AK127269;AK304027;BC011053;BC132721;BC144101;BC144102;BC146767;BM052719;BM455812;BX648643;CH471202;D87072;DA940867;NG_032920;NM_001146705;NM_001146706;NM_004653;U52191;U52365 AAC50806;AAC51135;AAG00951;AAI32722;AAI44103;AAI46768;AAK27839;BAA13241;BAG54468;BAG64942;EAW54663;EAW54664;NP_001140177;NP_001140178;NP_004644;Q9BY66 Hs.80358 1686182;1747253;1747261;1747263;1747265;1747267;1747269;1747271;1747273;1747275;1747277;1747279;1747281;1747283;1747285;1747287;1747289;1747291;1747297;1747675;1747677;1747679;1747681;1747683;1747685;1747687;1747689;1747691;1747693;2188665;2188683;2217504;5021622;5021624;5021626;5022875;5022877;5022879;5022881;5115578;5115580;5115582;5115584;5115586;5115588;5115590;5115592;5115594;5115596;5115598;5115600;5115602;5115604;5115606;5115608;5115610;5115612;5115614 G65278;G65280;G65282;G65283;G65284;G65311;G65312;G65313;G65314;G65315;G65317;G65318;G65319;G65320;G65321;G65322;G65323;G65324;G65492;G65493;G65494;G65496;G65497;G65498;G65499;G65500;G65536;G65537;G66385;G66544;JARID1D_3488;RH79888;SMCY-1;SMCY-10;SMCY-11;SMCY-12;SMCY-13;SMCY-14;SMCY-15;SMCY-16;SMCY-17;SMCY-18;SMCY-19;SMCY-2;SMCY-20;SMCY-21;SMCY-22;SMCY-23;SMCY-24;SMCY-25;SMCY-26;SMCY-27;SMCY-3;SMCY-4;SMCY-5;SMCY-6;SMCY-7;SMCY-8 HY;HYA;JARID1D;KIAA0234;SMCY H-Y;Jumonji, AT rich interactive domain 1D (RBP2-like);OTTHUMP00000034664;OTTHUMP00000034665;OTTHUMP00000034667;SMC homolog, Y chromosome;Smcy homolog, Y chromosome;Smcy homolog, Y-linked;histocompatibility Y antigen;histone demethylase JARID1D;jumonji, AT rich interactive domain 1D;jumonji/ARID domain-containing protein 1D;lysine-specific demethylase 5D;protein SmcY;selected mouse cDNA on Y, human homolog of;smcy homolog, y-linked (mouse) APPROVED protein-coding ENSG00000012817 11115 02464 426000 REVIEWED 1316934 KDM6B lysine (K)-specific demethylase 6B 17 17 p13.1 7683960 7698843 + 7743235 7758118 + 1580863;6480464 20571128;20574068;20667911;19451217;18628393;18003914;17923864;17713478;12477932;10662545;9205841;22252741;23152497;21209387;21242977;21245294;22955275;21841772;21890490;21900206;22020331;22713873;22782721;17825402;22915621;23236496;22907667;22505724;22589717;22770241 23135 I3L0Z0;O15054 AB002344;ABBA01054889;AC104581;AMYH01008086;BC009994;BC035897;CH471108;NM_001080424 AAH09994;BAA21572;EAW90127;EAW90128;NP_001073893;O15054 Hs.223678 JMJD3;KIAA0346 jmjC domain-containing protein 3;jumonji domain containing 3, histone lysine demethylase;jumonji domain-containing protein 3;lysine demethylase 6B;lysine-specific demethylase 6B protein-coding ENSG00000132510 29012 611577 PROVISIONAL 1313452 KDM5A lysine (K)-specific demethylase 5A This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013] 12 12 p11 259484 368881 - 389223 498620 - 1580863;6480464 1857421;11358960;8414517;11445587;18029348;18722178;17573780;17320161;17081983;16645588;16541399;16344560;15302935;14702039;12477932;9129143;9110174;8889549;8619474;8530100;8125298;7935440;15949438;15640446;19430464;19762557;20383146;18483221;21348942;23093672;20231316;21562575;22318606;21963094;23752268;21139048;21693764;21890473;21935404;22615382;22505724 5927 E7EV89;F5GZ99;F5GZR8;F5H1F7;F5H322;P29375 AA101935;AB209999;ABBA01048855;ABBA01048856;AC005844;AC007406;AF007135;AK057703;AK225060;AK301150;AK301273;AK307580;AK307689;AL133026;AMYH01004166;BC048307;BC053893;BC092417;BC110916;BU182136;CH471116;DA211439;DB079061;NM_001042603;S66431 AAB28544;AAH48307;AAH53893;AAI10917;AAI56462;AAI72533;BAE06081;BAG62741;BAG62835;EAW88970;EAW88971;NP_001036068;P29375 Hs.76272 1656723;1656865;1660401;1688620;1710324;1733596;1761065;1797766;1851252;1854573;2119136;2130767;2140085;2141044;2159660;2168826;2184829 A003M44;D12S1897;D12S1914;D12S928;G41014;JARID1A_2177;RH11182;RH44598;RH47587;RH66643;RH68615;RH70148;RH70779;RH75356;SHGC-145012;SHGC-82407;STS-R65684 JARID1A;RBBP-2;RBBP2;RBP2 Jumonji, AT rich interactive domain 1A (RBP2-like);OTTHUMP00000237742;histone demethylase JARID1A;jumonji, AT rich interactive domain 1A;jumonji/ARID domain-containing protein 1A;lysine-specific demethylase 5A;retinoblastoma binding protein 2;retinoblastoma-binding protein 2 APPROVED protein-coding ENSG00000073614 9886 08915 180202 REVIEWED 1602684 KDM8 lysine (K)-specific demethylase 8 This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009] 16 16 16 p12.1 25993442 26011724 + 27122317 27140544 + 27214807 27233089 + 6480464 17909537;16858412;16344560;16189514;14702039;12477932;8125298;20457893;21115819;22375008;23251661;22851697 79831 H3BM39;H3BPT5;H3BR76;Q8N371 ABBA01017151;AC092725;AC106739;AC109449;AK023860;AK225066;AK297166;AK298410;AK308499;AK310885;AMYH01007403;AY345239;BC027911;BQ022832;CH471145;DA497245;NM_001145348;NM_024773 AAH27911;AAQ23080;ADZ15750;BAB14706;BAG59661;BAG60638;EAW55759;NP_001138820;NP_079049;Q8N371 Hs.145717 FLJ13798;JMJD5 OTTHUMP00000162455;jmjC domain-containing protein 5;jumonji domain containing 5;jumonji domain-containing protein 5;lysine-specific demethylase 8 APPROVED protein-coding ENSG00000155666 25840 07836 611917 REVIEWED 1353242 KERSMCR cytokeratin, Smith Magenis syndrome chromosome region 10615134;1694815 27168 6310 1354488 KDM6A lysine (K)-specific demethylase 6A This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. [provided by RefSeq, Nov 2009] X X p11.2 44617725 44856791 + 44732423 44971847 + 1580863;6480464;6907133;6907137 22035299;21654818 18029348;19330029;18003914;17851529;17761849;17713478;17500065;15758204;15345747;15302935;15231748;14660691;12477932;10767340;9854018;9499428;9381176;22801502;17925232;19377476;20054297;20123895;20442750;17178841;19047629;21245294;20516061;21209387;21575637;21841772;22002947;21865393;21828135;20305087;22306297;21139048;21890473;22197486;22192413;22840376;17825402;21882399;23365460;22589717;22907667;21515470 7403 F5H5V6;F5H6S1;F8W8R6;H0Y5J3;H0Y6I7;H0Y6V5;H7C1F1;O15550;Q59HG3 AB208795;ABBA01046269;ABBA01046270;ABBA01046271;ABBA01046272;ABBA01046273;ABBA01046274;ABBA01046275;ABBA01046276;ABBA01046277;ABBA01046278;ABBA01046279;ABBA01046280;ABBA01046281;ABBA01046282;ABBA01046283;ABBA01046284;ABBA01046285;ABBA01046286;ABBA01046287;ABBA01046288;ABBA01046289;ABBA01046290;ABBA01046291;ABBA01046292;ABBA01046293;ABBA01046294;ABBA01046295;ABBA01046296;ABBA01046297;ABBA01046298;ABBA01046299;ABBA01046300;AC136488;AF000992;AF000993;AK294456;AK303430;AK304114;AK307691;AL041377;AL133545;AL138744;AL831996;AMYH01022242;AMYH01022243;AMYH01022244;AY591397;BC093868;BC113381;BC143272;BC143275;BC143277;BC143278;BX640694;CH471141;CR749602;DC381812;DQ062676;DQ062677;DQ062678;EU026283;EU026291;NG_016260;NM_021140 AAC51839;AAC51840;AAH93868;AAI13382;AAI43273;AAI43278;AAI43279;AAT86073;AAZ06655;AAZ06656;AAZ06657;ABV82614;ABV82622;BAD92032;BAG57692;BAG64480;BAG65015;CAD89904;CAE45817;CAH18397;EAW59368;NP_066963;O15550 Hs.522616 1730421;2110795;2122202;2167109;2176774;5092370 1376;D13S185;G34976;G49474;RH66464;UTX_8713 DKFZp686A03225;KABUK2;MGC141941;UTX;bA386N14.2 OTTHUMP00000023175;bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX));histone demethylase UTX;lysine-specific demethylase 6A;ubiquitously transcribed TPR protein on the X chromosome;ubiquitously transcribed X chromosome tetratricopeptide repeat protein;ubiquitously transcribed tetratricopeptide repeat protein X-linked;ubiquitously-transcribed TPR gene on the X chromosome;ubiquitously-transcribed TPR protein on the X chromosome;ubiquitously-transcribed X chromosome tetratricopeptide repeat protein APPROVED protein-coding ENSG00000147050 12637 02131 300128;300867 REVIEWED 1346346 KFM Klippel-Feil malformation 3793 6311 1347758 KFSD keratosis follicularis spinulosa decalvans 7240710 3794 6313 308800 731018 KDR kinase insert domain receptor (a type III receptor tyrosine kinase) Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009] 4 4 q11-q12 55639406 55686519 - 55944426 55991762 - 1580863;1581717;1304323;1581706;1581713;1626621;1334463;2292019;2291926;2291951;2298727;2313728;2313724;2291925;2291936;2291934;2291949;2291950;2289964;2301252;2298729;2301761;2301756;2301760;2313725;2301758;2301757;2301759;2301755;2301848;2291929;2291952;5684417;1580568;5684385;5684411;5684420;5684382;5684406;5684414;5684389;5684395;5684393;5135061;5684418;5684404;5684407;5684541;5684425;5684426;5684427;5684415;5684538;5684396;5684424;6480464;5684383;5684397;5684428;5684533;5684399;5684402;6484113;6907361;6907045;7207796;7240710 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650;18443354;19884766;21612582;22095559;22362758;22706170;22718841;22763125;22541785 3791 P35968;Q59EB0 AB209901;ABBA01003408;AC021220;AC111194;AF035121;AF063658;AK293668;AMYH01014189;BC131822;BP280621;CH471057;EU826563;FJ899739;L04947;NG_012004;NM_002253;X61656;X89776 AAA59459;AAB88005;AAC16450;AAI31823;ACF47599;ACR78514;BAD93138;BAG57114;CAA43837;CAA61916;EAX05462;EAX05463;EAX05464;NP_002244;P35968 Hs.479756 1645710;1745617;1745619;2113766;2127359;2151785;2173664;2173666;5114079 A005U41;G20520;GDB:626090;GDB:626093;KDR;RH70435;SHGC-50925;SHGC-59221;SHGC-59525 CD309;FLK1;VEGFR;VEGFR2 OTTHUMP00000158928;fetal liver kinase 1;fetal liver kinase-1;protein-tyrosine kinase receptor Flk-1;soluble VEGFR2;tyrosine kinase growth factor receptor;vascular endothelial growth factor receptor 2 APPROVED protein-coding ENSG00000128052 6307 01867 191306;602089 REVIEWED 1317161 KDSR 3-ketodihydrosphingosine reductase The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008] 18 18 q21.3 59145951 59185486 - 60994971 61034506 - 1598985;1580863;6480464;6907045 8417785 19027726;19019774;18395445;17420465;16711541;15489334;15328338;14702039;12960700;12477932;7949096;20855565;15364918;19773279;19322201 2531 B4DMX0;K7EQS7;K7ERC8;Q06136 ABBA01056215;ABBA01056216;AC021803;AC036176;AF086045;AK025120;AK093874;AK126679;AK297670;AK312360;AMYH01009055;BC008797;BI458411;BT006782;CH471096;NG_028249;NM_002035;X63657 AAH08797;AAP35428;BAG35278;BAG60032;CAA45197;EAW63140;EAW63141;NP_002026;Q06136 Hs.74050 1644605;1658693;1687273;1716761;1795878;2148281;2163572;2172232;5015861;5015961;5037552;7185938 D10S16;D15S1477;D18S1033;D18S1366;D8S2279;FVT1_115;RH121674;RH44852;RH91892;SHGC-30232;STS-T87876 DHSR;FLJ36555;FLJ92680;FVT1;SDR35C1 3-dehydrosphinganine reductase;3-ketodihydrosphingosine reductase;FVT-1;KDS reductase;OTTHUMP00000163681;follicular lymphoma variant translocation 1;follicular variant translocation protein 1;short chain dehydrogenase/reductase family 35C, member 1 APPROVED protein-coding ENSG00000119537 4021 00640 136440 REVIEWED 5688627 KHDC1P1 KH homology domain containing 1 pseudogene 1 6 q13 73918806 73920695 - 17913455 653194 ABBA01040303;AL365232;AMYH01016424 1800436;1803026;1826286;1827086;1839750;1922210;1922212;1922214;1922216;1922218;1922220;1922222;1922224;1922226;1922228;1922230;1922232;1922234;1922236;1922238;1922240;1922242;1922244;1922498;2207008;2207010;2207012 ECD01078;ECD02404;ECD14255;ECD14658;ECD21058;REN31928;REN31929;REN31930;REN31931;REN31932;REN31933;REN31934;REN31935;REN31936;REN31937;REN31938;REN31939;REN31940;REN31941;REN31942;REN31943;REN31944;REN31945;REN32072;stSG625729;stSG625730;stSG625731 pseudo 43757 MODEL 3340258 KHDC1L KH homology domain containing 1-like 6 6 6 q13 74326519 74328427 - 73989988 73991896 - 73933267 73935175 - 6480464 12477932 100129128 F5H697;Q5JSQ8 ABBA01040303;AL365232;AMYH01016424;BC004267;NM_001126063 NP_001119535;Q5JSQ8 Hs.663639 1803026;1806910;1807858;1842154;1922210;1922334;1922336;1922338;1922340;1922342;1922344;1922346;1922348;1922350;1922352;1922354;1922356;1922358;1922360;1922362;1922364;1922366;2207034;2207036 ECD02404;ECD04420;ECD04904;ECD22280;REN31928;REN31990;REN31991;REN31992;REN31993;REN31994;REN31995;REN31996;REN31997;REN31998;REN31999;REN32000;REN32001;REN32002;REN32003;REN32004;REN32005;REN32006;stSG625742;stSG625743 KH homology domain containing 1-like;OTTHUMP00000163305;RP11-257K9.7;putative KHDC1-like protein protein-coding ENSG00000256980 37274 VALIDATED 1316929 KEL Kell blood group, metallo-endopeptidase This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008] 7 7 q33 142348323 142369625 - 142638201 142659503 - 1580863;6480464 7737196;1712490;15769748;19347978;18510579;18067501;17379193;16423827;16189514;15754970;15489334;13477267;12842980;12477932;11375401;11134029;10620363;10556484;10438732;9647734;8669078;8652402;7849312;7683930;7570911;2980265;7858266;21145461;19747286;20431033;20609202;21900206;23314748 3792 E7ETW3;E9PHG0;H0Y8A1;P23276 AACC02000106;ABBA01034131;AC099652;AF172627;AF279657;AK314831;AM183928;AM183929;AM183930;AMYH01018007;AW294875;AY228336;BC003135;BC050639;CH236959;CH471198;FN998902;HE572750;M64934;NG_007492;NM_000420;S76770;S80081 AAA03192;AAB33389;AAB33459;AAB47018;AAH03135;AAH50639;AAK69488;AAO38053;ABM87775;ABW03867;BAG37351;CAJ75457;CAJ75458;CAJ75459;CBS91665;CCC42286;EAW51891;EAW51892;EAW51893;NP_000411;P23276 Hs.368588 1659451;1704610;1854316;2108185;2121871 D7S2887;KEL;KEL_8423;SHGC-37612;SHGC-81465 CD238;ECE3 OTTHUMP00000211578;kell blood group antigen;kell blood group glycoprotein APPROVED protein-coding ENSG00000197993 6308 00194 110900;613883 REVIEWED 1606385 KGFLP1 fibroblast growth factor 7 pseudogene 9 9 p11.2 46527562 46588382 + 46687557 46746820 + 6480464 15809711;14702039;12477932;15146197 387628 Q2TVT4;Q8NFD4 AF523265;AK054997;AK307215;AL590399;AMYH01020830;AMYH01020831;AY098593;BC101842;BC112977;BC112978;CN274734;DB501751;NR_003674;NR_047527 AAM34503;AAM82158;Q2TVT4;Q8NFD4 Hs.439341;Hs.732660 5021494;5092304 G15911;SHGC-84206 MGC125746;MGC125747;MGC126891 APPROVED pseudo ENSG00000227449 13402 VALIDATED 1348536 KHDC1 KH homology domain containing 1 6 6 6 q13 74344289 74366140 - 74007758 74029628 - 73951037 74019938 - 6480464 17913455;14702039;12477932;8889548 80759 A6PVU5;Q4VXA5 ABBA01040304;ABBA01040305;ABBA01040306;ABBA01040307;ABBA01040308;ABBA01040309;ABBA01040310;ABBA01040311;AC019205;AL365232;AMYH01016424;AMYH01016425;BC022080;BM725230;CH471051;DB477180;NM_001251874;NM_030568 AAH22080;EAW48776;EAW48777;EAW48778;EAW48779;EAW48780;NP_001238803;NP_085045;Q4VXA5 Hs.433062 1653754;1680547;1802462;1805346;1807054;1807858;1807860;1813132;1820630;1823156;1824910;1825942;1830366;1830368;1831136;1831394;1833832;1834320;1834582;1834798;1836652;1842158;1843490;1843556;1844176;1844984;1845322;1922292;1922486;1922488;1922490;1922492;1922494;1922496;1922498;1922500;1922502;1922504;1922506;1922508;1922510;1922512;1922514;1922516;1922518;1922520;1922522;1922524;1922526;1922528;1922530;1922532;1922534;1922536;1922538;1922540;1922542;1922544;1922546;1922548;1922550;1922552;1922554;1922556;1922558;1922560;1922562;1922564;1922566;1922568;1922570;1922572;1922574;1922576;1922578;1922580;1922582;1922584;1922586;1922588;1922590;1922592;1922594;1922596;1922598;1922600;1922602;1922604;1922606;1922608;1922610;1922612;1922614;1922616;1922618;1922620;1922622;1922624;1922626;1922628;1922630;1922632;1922634;1922636;1922638;1922640;1922642;1922644;1922646;1922648;1922650;1922652;1922654;1922656;1922658;1922660;1922662;1922664;1922666;1922668;1922670;1922672;1922674;1922676;1922708;1923014;1923016;2127315;2207062;2207064;2207066;2207068;2207070;2207072;2207074;2207076;2207078;2207080;2207082;2207084;2207086;2207088;2207090;2207092;2207094;2207096 ECD02117;ECD03620;ECD04492;ECD04904;ECD04905;ECD07585;ECD11390;ECD12666;ECD13554;ECD14080;ECD16317;ECD16318;ECD16704;ECD16833;ECD18062;ECD18308;ECD18439;ECD18547;ECD19490;ECD22282;ECD22954;ECD22987;ECD23301;ECD23708;ECD23878;REN31969;REN32066;REN32067;REN32068;REN32069;REN32070;REN32071;REN32072;REN32073;REN32074;REN32075;REN32076;REN32077;REN32078;REN32079;REN32080;REN32081;REN32082;REN32083;REN32084;REN32085;REN32086;REN32087;REN32088;REN32089;REN32090;REN32091;REN32092;REN32093;REN32094;REN32095;REN32096;REN32097;REN32098;REN32099;REN32100;REN32101;REN32102;REN32103;REN32104;REN32105;REN32106;REN32107;REN32108;REN32109;REN32110;REN32111;REN32112;REN32113;REN32114;REN32115;REN32116;REN32117;REN32118;REN32119;REN32120;REN32121;REN32122;REN32123;REN32124;REN32125;REN32126;REN32127;REN32128;REN32129;REN32130;REN32131;REN32132;REN32133;REN32134;REN32135;REN32136;REN32137;REN32138;REN32139;REN32140;REN32141;REN32142;REN32143;REN32144;REN32145;REN32146;REN32147;REN32148;REN32149;REN32150;REN32151;REN32152;REN32153;REN32154;REN32155;REN32156;REN32157;REN32158;REN32159;REN32160;REN32161;REN32178;REN32331;REN32332;RH12703;RH37411;RH76458;stSG625756;stSG625757;stSG625758;stSG625759;stSG625760;stSG625761;stSG625762;stSG625763;stSG625764;stSG625765;stSG625766;stSG625767;stSG625768;stSG625769;stSG625770;stSG625771;stSG625772;stSG625773 C6orf148;MGC10818;NDG1;bA257K9.4 KH homology domain-containing protein 1;OTTHUMP00000016734;OTTHUMP00000196140 protein-coding ENSG00000135314 21366 10790 611688 VALIDATED 1605110 KEAP1 kelch-like ECH-associated protein 1 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.2 10457796 10475054 - 10596796 10614054 - 6480464;6893370;6893300;6893397;6893398;6892949;6893395;6893386;6893372;5134973;6892947;6892951;6893270;6892954;6892955;5133246;6902919;6907045 18417483;20718723;18957896;18692501;19671143;19520915;21439372;22367278;18559366;20007347;22609006;21075092;22459801;21799073;20734248;18078953 15166316;15367669;18029348;19424632;18829555;18757741;18555005;18476723;18316592;18251510;18240569;18062931;17980616;17925401;17903176;17822677;17636022;17603223;17259171;17145701;17046835;17020408;16508120;16507366;16344560;16204884;16189514;16137655;16006525;16000310;22279539;15983046;15917255;15601839;15583386;15572695;15475350;15379550;15282312;15231748;14702039;12947090;12477932;12360409;12145307;11921171;11909699;11439354;9887101;8590280;18417180;18358244;14517290;22684020;23052169;15383316;18387606;20484052;21145461;22245129;22558124;22911784;22683333;22872865;20421418;16888629;17439941;17462537;17510365;19321346;19489739;19608619;19615732;19706542;19818716;19967722;20061377;20064547;20196834;20213688;20378532;20534738;20600852;20427290;15985429;20124447;20562859;20801881;20865015;21251164;21248763;14585973;23047008;20452972;20463144;20864537;21262351;21900206;21903422;21926171;22072718;21357422;21173573;21610322;19920073;20452971;20486933;21506927;16790436;22089114;23242280;23188707;23249627;22874821;23117207;23213463;23274085;23281314;23382044;23390006;20027226;21676886;20599909;21795997;22348534;20534351;21139048;21383067;21890473;21897267;21906983;22215675;23318954;23454126;23061798;23402259;23645672;23722832;21693047;21875324;22125611;19424503;20495340;21044950;21482715;21963094;21988832;22448038;23056183;22943825;23066931;16687406;18981988;19409485;22053931;22505724 9817 K7EJ49;K7EJD8;K7EMY1;K7EPZ3;K7EQX2;K7ESE0;Q14145 ABBA01029920;ABBA01029921;AC011461;AF361886;AF361892;AK056204;AMYH01009476;AU130822;BC002417;BC002930;BC003156;BC014118;BC015945;BC021957;CH471106;D50922;NM_012289;NM_203500 AAH02417;AAH02930;AAH15945;AAH21957;AAK43722;AAK51082;ABM84565;ABM86523;ABW03660;BAA09481;BAG51647;EAW84110;EAW84111;EAW84112;NP_036421;NP_987096;Q14145 Hs.465870 1647431;1664541;1695312;1754699;2131890 Bda20d07;G29193;RH25355;SHGC-133060;SHGC-63493 INrf2;KIAA0132;KLHL19;MGC10630;MGC1114;MGC20887;MGC4407;MGC9454 cytosolic inhibitor of Nrf2;kelch-like ECH-associated protein 1;kelch-like family member 19;kelch-like protein 19 APPROVED protein-coding ENSG00000079999 23177 12079 606016 REVIEWED 1314078 KERA keratocan The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010] 12 12 q22 89968399 89976262 - 91444268 91452131 - 1600335;1600400;1580863;6480464;7240710 10802664;11683372 18620607;17679937;17558846;17011957;16760896;16335952;16157807;15489334;15370545;12477932;11726611;10899581;10828599;10565548;10416788;8889548;7601455;20357198;19834535;20360993;20467438;23284291 11081 O60938 ABBA01053409;AC078873;AF063301;AF065988;AF205403;AK314990;AMYH01004652;BC032667;BM722433;CH471054;CV571245;NG_021223;NM_007035 AAC16390;AAC17741;AAF69126;AAH32667;ABM81817;ABM84972;BAG37486;EAW97448;NP_008966;O60938 Hs.125750 1676184;1753483;2176364 D12S1441;RH93820;SHGC-107417 CNA2;SLRR2B KTN;OTTHUMP00000242888;keratan sulfate proteoglycan keratocan;keratocan APPROVED protein-coding ENSG00000139330 6309 04477 217300;603288 REVIEWED 1346854 KHRBP1 KH-type RNA binding protein 1 80711 14641 1604735 KHDC3L KH domain containing 3-like, subcortical maternal complex member The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011] 6 6 6 q13 74466955 74468453 + 74129121 74130615 + 74072400 74073898 + 17913455;12787504;12477932;21885028;22909446;23125094 154288 Q587J8 AB211062;ABBA01040314;AC019205;AI638315;AMYH01016425;BC132844;BC137160;CH471051;NG_031942;NM_001017361 AAI32845;AAI37161;ADR83511;BAD95489;EAW48773;NP_001017361;Q587J8 Hs.128326 1697602;1802932;1804220;1844654;1923396;1923398;1923400;1923402;1923404;1923406;1923408;1923410;1923412;1923414;1923416;1923418;1923420;1923422;1923424;1923426;1923428;1923430;2207224;2207226;2207228 ECD02356;ECD03032;ECD23541;REN32522;REN32523;REN32524;REN32525;REN32526;REN32527;REN32528;REN32529;REN32530;REN32531;REN32532;REN32533;REN32534;REN32535;REN32536;REN32537;REN32538;REN32539;RH102312;stSG625840;stSG625841;stSG625842 C6orf221;ECAT1;HYDM2 ES cell associated transcript 1;ES cell-associated transcript 1 protein;KHDC3-like protein;OTTHUMP00000196139 APPROVED protein-coding ENSG00000203908 33699 18560 611687;614293 REVIEWED 4889219 KHSRPP1 KH-type splicing regulatory protein pseudogene 1 9 9 9 p21.3 21633491 21638376 + 21685173 21690033 + 21695173 21700072 + 402359 ABBA01065176;AL355679;AL359922;AMYH01019275;NG_006557 2174706 WI-21930 pseudo 39198 INFERRED 1349535 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 6 6 6 q11.1 60547513 61153711 - 62447824 63054091 - 62389865 62996100 - 1580863;6480464 16189514;18029348;18464913;15345239;14702039;12549823;12529443;12477932;10077576;17207965;17643375;22318606;21906983;19091369;19254361;22505724;19282290 202559 Q5VWX1 ABBA01039500;ABBA01039501;ABBA01039502;ABBA01039503;ABBA01039504;ABBA01039505;AK095983;AK292043;AL049544;AL133459;AL138882;AL161440;AL355347;AL360220;AL391644;AL590202;AMYH01016384;AY077838;BC034043;BI597067;CH471143;D60325;NM_152688;Z93021 AAH34043;AAL77219;ADQ32350;BAF84732;BAG53185;EAW88489;EAW88490;EAW88491;NP_689901;Q5VWX1 Hs.519794 1337013;1337972;1339527;1717887;1722495;1750143;1750799;1757137;2138279;5022651;7186181 D11S2921;D6S1710;D6S1711;D6S402;G17080;G60171;RH122775;SHGC-103669;SHGC-112256;SHGC-144572 FLJ38664;MGC26664;SLM-1;SLM1;bA535F17.1 KH domain-containing, RNA-binding, signal transduction-associated protein 2;OTTHUMP00000016670;Sam68-like mammalian protein 1;hSLM-1 protein-coding ENSG00000112232 18114 13775 610487 VALIDATED 1354239 KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 8 8 q24.2 136538898 136729031 + 136469716 136659849 + 1580863;6480464 10332027;18029348;17081983;16810759;16189514;15901763;15489334;15163637;12921630;12529443;12477932;11741900;11714634;11463515;11118435;10749975;10564820;10077576;16169070;17643375;19447967;19584924;19561594;21628590;18624398;21078624;21725612;21139048;19091369;19254361 10656 E5RG12;E5RHD3;E5RJZ9;H0YAQ1;H0YAQ3;H0YB45;O75525 ABBA01012694;AC040914;AC104371;AF051321;AF051322;AF069681;AMYH01019044;AMYH01019045;BC032606;BC068536;CH471060;NM_006558 AAC24857;AAC99294;AAC99295;AAH32606;AAH68536;ABM81812;ABM84967;EAW92182;NP_006549;O75525 Hs.444558 1671205;1704658;1747119;1750903;1781276;2154068;2166352 D8S2049;G64006;G64208;SGC30203;SHGC-104658;SHGC-77960;WI-16773 Etle;SALP;SLM-2;SLM2;T-STAR;TSTAR;etoile KH domain-containing, RNA-binding, signal transduction-associated protein 3;OTTHUMP00000226029;OTTHUMP00000226038;RNA-binding protein T-Star;Sam68-like phosphotyrosine protein, T-STAR;sam68-like mammalian protein 2 protein-coding ENSG00000131773 18117 10007 610421 PROVISIONAL 1316201 KHNYN KH and NYN domain containing 14 14 14 q12 4763777 4775184 + 23968981 23980388 + 24899141 24910548 + 6480464 17081983;16344560;15489334;12477932;9205841;20800603;16712791;17114934;19561090;21139048;21890473;21906983;20686565 23351 G3V331;G3V3G3;O15037 AB002321;ABBA01061345;AK291680;AL132800;AMYH01005612;BC015780;BC042554;BM464048;BX161465;CB115247;CH471078;DA674601;NM_015299 AAH15780;AAH42554;BAA20781;BAF84369;CAD61924;EAW66013;EAW66014;EAW66015;NP_056114;O15037 Hs.713590 1647214;1672218;1674270;2157220;5124711 A002H45;HSCZSG032;RH48917;RH76482;WI-15548 KIAA0323 KH and NYN domain-containing protein;OTTHUMP00000245797;OTTHUMP00000245798;OTTHUMP00000245799;protein KHNYN APPROVED protein-coding ENSG00000100441 20166 11076 VALIDATED 734416 KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 p32 32252078 32282059 + 32479491 32509472 + 1580863;6480464 1374686;9045636;11278465;11585385;16341228;18377426;9013542;19150430;18957126;18394557;17855053;17764653;17371836;17179751;17081983;16795043;16710414;16568089;16362077;16179349;16169070;16083285;15782174;15701759;15635413;15619005;15489334;15231748;15021911;14702039;14647465;12529443;12496368;12482964;12478298;12477932;12370810;12370808;12134041;12112020;12029088;11932418;11604231;11483766;11437596;11254726;10962565;10951562;8702753;8576157;7799925;7537265;7516469;1545818;16236470;12163161;11960376;11118435;11604498;10635328;10913193;10820259;10805734;10749975;10748127;10564820;10564280;10467411;10437794;10371501;10332027;9872323;9804166;9743338;9564850;9362449;9315629;9315091;9201297;9010224;8995379;8985255;8810341;8766817;21145461;17264152;17891136;17643375;19041431;19091369;19254361;19535902;19615357;19755649;19912651;20028857;20186122;20186123;20876280;20936779;20610388;22939629;16055720;16159877;19596784;21035519;22005517;7852312;21489997;21642356;21182205;18457437;19596686;21620750;21678403;22118674;21700735;15190072;16274251;20805487;21628590;22000517;16888650;21139048;21360055;21549307;21890473;21906983;19531213;22745667;15146197;16107303;19149558;19149559;21565971;21672929;22124844;22505724;23018781;23104543 10657 Q07666 ABBA01023443;ABBA01023444;AK091346;AK293369;AK303218;AK312916;AL139249;AL445248;AMYH01000465;BC000717;BC010132;BC019109;CA442272;CH471059;CN345570;DB365017;DC351638;M88108;NM_001271878;NM_006559;NR_073498;NR_073499;U78971 AAA59990;AAB47504;AAH00717;AAH10132;AAH19109;ABM86249;BAC03643;BAG35762;BAG56883;BAG64305;EAX07574;EAX07575;EAX07576;EAX07577;NP_001258807;NP_006550;Q07666 Hs.445893 1649293;1664653;1796224;2180904 AL009822;D1S3208;KHDRBS1_903;SHGC-74493 FLJ34027;Sam68;p62;p68 GAP-associated tyrosine phosphoprotein p62 (Sam68);KH domain-containing, RNA-binding, signal transduction-associated protein 1;OTTHUMP00000004022;OTTHUMP00000035623;p21 Ras GTPase-activating protein-associated p62;p68;src associated in mitosis, 68 kda;src-associated in mitosis 68 kDa protein protein-coding ENSG00000121774 18116 03926 602489 REVIEWED 69145 KHK ketohexokinase (fructokinase) This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 p23.3 27163115 27177123 + 27309611 27323619 + 1580863;1300048;2302253;6480464;6907045;7240710 6088170 7833921;17353931;11256614;18029348;19237742;19158351;16381901;16372272;16344560;15489336;15489334;12941785;12477932;11076863;9799106;8889548;8662230;8125298;2996495;21145461;19913121;20628086;21139048;21890473;23112875;23341889 3795 C9JDL1;P50053 AB209518;ABBA01045192;ABBA01045193;AC013403;AJ005168;AK130033;AK223075;AMYH01010194;BC006233;BM681082;BX648873;CH471053;CR456801;DA068313;NG_012199;NM_000221;NM_006488;X78677;X78678;Y09336;Y09340;Y09341 AAH06233;AAX93167;BAD92755;BAD96795;CAA06409;CAA55346;CAA55347;CAA70516;CAA70521;CAA70522;CAA70523;CAG33082;CAL38164;EAX00640;EAX00641;EAX00642;EAX00643;NP_000212;NP_006479;P50053 Hs.567297 1651754;1656643;1855424;2132891;2132893;2142354;2152542;5015881 A001Z30;D2S2614;G19822;GDB:335751;RH70916;SHGC-12022;STS-Z41432;WI-15611 OTTHUMP00000122595;OTTHUMP00000122596;OTTHUMP00000200951;hepatic fructokinase;ketohexokinase APPROVED protein-coding ENSG00000138030 6315 11774 229800;614058 REVIEWED 1346672 KHSRP KH-type splicing regulatory protein The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010] 19 19 p13.3 6364115 6375822 - 6413115 6424822 - 6480464 21196264;10911989;17353931;17474147;9136930;19198587;19003864;18583400;21139048;21890473;21900206;17908789;17177604;17081983;16964243;16648466;15606899;15514971;15175153;14657238;12477932;11719186;11003644;10781591;10087204;9858532;8940189;8889548;1602151;21145461;21319273;15851029;20639884;17643375;19458619;19585652;19775426;20332102;16055720;17549794;21627028;22863883;22939629;23142982;21705779;18029348;21795706;19322201;21628590;21906983;21935400;21935887;21963094;21987572;22079093;22118674;22586326;19738201;22053931;22623428;22751105;23000965;23246001;23345520;23524258;23537643;15161980;22505724 8570 M0QXW7;M0QYG1;M0QYH3;M0R0C6;M0R0I5;M0R251;M0R263;M0R3J3;Q92945 AA976482;AB209662;ABBA01055958;ABBA01055959;AC011491;AC011539;AF093747;AF093748;AK300957;AMYH01009372;BC009473;BC085004;BQ186683;CB216491;CF123311;CH471139;DC388502;NM_003685;U69126;U94832 AAB53222;AAC50892;AAD29861;AAD29862;AAH85004;BAD92899;BAG62585;EAW69095;EAW69096;EAW69097;NP_003676;Q92945 Hs.727344 1796226;2150672;2181610;2184552 KHSRP__1186;RH15912;STS-N21621;STS-N79751 FBP2;FUBP2;KSRP;MGC99676 FUSE binding protein 2;FUSE-binding protein 2;KH type-splicing regulatory protein;far upstream element-binding protein 2;p75 APPROVED protein-coding ENSG00000088247 6316 10350 603445 VALIDATED 1318702 KIAA0020 KIAA0020 9 9 9 p24.2 2722408 2762387 - 2794152 2834130 - 2804152 2844130 - 1580863;6480464 10942595;18029348;18093280;17558408;16344560;15635413;15489334;15164053;12477932;12429849;12135428;11790298;11148223;8125298;7584028;7584026;21145461;16169070;20353833;19454010;22586326;15840729;19596686;22178446;19471022;21139048;21266351;23251661 9933 Q96L80 ABBA01065436;AF490254;AK225953;AK292169;AK315531;AL354723;AL589675;AL832239;AL832245;AMYH01019193;AY047588;AY047589;AY047590;BC016137;CH471071;CR456957;D13645;DA358022;NM_014878 AAH16137;AAL06072;AAL06073;AAL06074;AAO85462;BAA02808;BAF84858;BAG37911;CAG33238;EAW58802;NP_055693;Q15397 Hs.493309 1645758;1724993;1847302;2180937;5125360 D9S1136;D9S1951;RH118792;RH17371;WI-11706 HA-8;HLA-HA8;MGC8749;PEN;PUF6;RP11-526D20.2;XTP5;hPUF-A HBV X-transactivated gene 5 protein;HBV XAg-transactivated protein 5;KIAA0020 protein;OTTHUMP00000020987;minor histocompatibility antigen HA-8;penguin homolog;protein 5 transactivated by hepatitis B virus X antigen (HBxAg);pumilio domain-containing protein KIAA0020 protein-coding ENSG00000080608 29676 08822 609960 VALIDATED 2290033 KIAA0040 KIAA0040 1 1 1 q24-q25 148236421 148272507 - 173392745 173396616 - 175126123 175162229 - 6480464 16710414;15489334;12477932;7584028;7584026;21703634;16344560;18757439;21956439 9674 J3QR46;Q15053 ABBA01027873;AK292691;AL008626;AL049799;AL049800;AMYH01001514;AMYH01001515;BC020789;BC032361;BC050374;BC111699;CH471067;D25539;DA185535;DA337166;DA852435;DB232064;NM_001162893;NM_001162894;NM_001162895;NM_014656;Z99715 ABZ92279;BAA05022;BAF85380;CAB42560;CAB42561;EAW90987;EAW90988;EAW90989;EAW90990;EAW90991;NP_001156365;NP_001156366;NP_001156367;NP_055471;Q15053 Hs.518138 1683034;1768646;2164370 D1S2394;RH25277;SHGC-75890 FLJ75822;MGC133301 hypothetical protein LOC9674;uncharacterized protein KIAA0040 protein-coding ENSG00000235750 28950 13776 VALIDATED 2292468 KIAA0087 KIAA0087 7 7 7 p15.2 26561715 26567415 - 26572740 26578444 - 26572740 26578444 - 6480464 16344560;12690205;12477932;11181995;9847074;7788527;16169070 9808 Q14695 AACC02000007;ABBA01056750;AC004947;AMYH01017129;BC128257;CH236948;CH471073;D42038;DB147006;NR_022006 AAQ96877;BAA07639;EAL24233;EAW93856;Q14695 Hs.69749 1655182;1682313;1699018;1770417;1789268;1848484;2184687;5022578;5037552 D1S1423;D8S2279;G10725;G65632;GDB:1317142;RH103081;RH17443;RH25315;SGC35318 miscrna ENSG00000122548 22191 PREDICTED 1346014 KIAA0125 KIAA0125 14 14 14 q32.33 86314640 86329299 + 105461657 105469555 + 106383838 106398502 + 14702039;12477932;8590280;3138112;11042152;11181995 9834 Q05DB7;Q9NZY2 AB019441;ABBA01074086;AF150199;AF161538;AK125627;AMYH01006100;AW451894;BC016766;BC030286;BC152473;CH471061;D50915;NG_001019;NR_026800;X97051 AAF29025;AAH16766;AAH30286;BAA09474;EAW81952;EAW81953;EAW81954;EAW81955;EAW81976;Q9NZY2 Hs.649259 1777747 RH25348 C14orf110;FAM30A;HSPC053;MGC176731;MGC22719;MGC39943 miscrna 19955 13779 VALIDATED 1353596 KIAA0226 KIAA0226 3 3 3 q29 196014953 196093675 - 198882656 198948170 - 197398259 197476568 - 737633;4889529;6480464 12477932;20034776 22423967;22423966;16641997;16344560;15146197;11181995;9039502;20826435;20974968;21062745;15231748;19270693;19270696;19550146;20379614;20562859;20943950;22527681;23728897 9711 E9PEM3;H0Y6E6;H7C357;H7C3H3;Q92622 ABBA01007566;ABBA01007567;ABBA01007568;ABBA01007569;ABBA01007570;AC024560;AK295625;AMYH01013808;BC014173;BC033615;BU501990;BX647598;CH471252;CN288121;D86979;DA007321;DB036516;DB075342;NM_001145642;NM_014687 AAH14173;AAH33615;AAI60011;BAA13215;BAG58502;CAI46107;EAW92238;EAW92239;NP_001139114;NP_055502;Q92622 Hs.478868 1652456;1680327;1767115;2132347;2145051;2162388;5015961;5020948;5022578;5109281 D15S1477;D1S1423;D1S1425;G35510;L17937;RH66168;RH99161;SGC34513;SHGC-77701;SHGC-77703 RUBICON OTTHUMP00000208021;OTTHUMP00000208023;OTTHUMP00000208024;OTTHUMP00000208026;RUBICON;RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein;RUN domain protein as Beclin 1-interacting and cysteine-rich containing;baron;beclin-1 associated RUN domain containing protein;run domain Beclin-1 interacting and cystein-rich containing protein;run domain Beclin-1 interacting and cysteine-rich containing protein;rundataxin protein-coding ENSG00000145016 28991 613516 VALIDATED 1605423 KIAA0100 KIAA0100 17 17 17 q11.2 23800485 23831200 - 23965585 23996300 - 26941458 26972177 - 6480464 16289875;15489334;14702039;12477932;7788527;18549609;16344560;21697133;21139048;21906983 9703 J3QLM5;K7EMT1;K7EQ86;K7EQR3;Q08E86;Q14667 AB621823;ABBA01015051;ABBA01015052;AC005726;AK130007;AK307216;AMYH01008280;AW161205;AY943906;BC008591;BC048096;BC050440;BC103726;BC120873;BM999622;CH471159;CN482281;CR933634;D43947;DB152098;NM_014680 AAH08591;AAH48096;AAI03727;AAI20874;AAY19515;BAA07891;BAC85274;BAK64158;CAI45940;EAW51112;EAW51113;EAW51114;EAW51115;NP_055495;Q14667 Hs.151761 1667701;1678601;1683150;1734434;1736646;1847515;2123029 D17S1405E;D17S1484E;G19761;RH10564;RH25327;SHGC-12628;SHGC-31911 BCOX;BCOX1;CT101;DKFZp686M0843;MGC111488;MGC134981 OTTHUMP00000233595;U937-associated antigen;UPF0378 protein KIAA0100;antigen MLAA-22;breast cancer overexpressed gene 1;breast cancer-overexpressed gene 1 protein;cancer/testis antigen 101;hypothetical protein LOC9703 protein-coding ENSG00000007202 28960 11064 610664 VALIDATED 1353661 KIAA0101 KIAA0101 15 15 q22.31 62444246 62460755 - 64657193 64673702 - 1580863;6480464 12477932;11313979;7788527;18068894;16646990;16288740;15789362;15489334;15334068;17875765;18727915;19219066;17207965;21070969;21263028;22576474;20118010;21628590;22096502;21673012;23698777;18781797;20639865;20972266;21139048;21906983;21689861;23240630;21890473;21963094;23157749;22863883;22939629;23000965;22053931;22505724;23209346 9768 H0YK15;H0YKX3;H0YMA4;H0YMY2;Q15004 ABBA01038891;AC087632;AF529370;AK290748;AMYH01006709;AV757440;AY598324;BC005832;BC007101;BC016782;BG502841;CH471082;D14657;JN245882;JN245883;JN245884;JN245885;JN245886;JN245889;JN245890;JN245892;JN245893;JN245894;JN245895;JN245896;JN245897;JN245898;JN245899;JN245900;JN245901;JN245902;JN245903;JN245904;JN245906;JN245907;JN245908;JN245910;JN245911;JN245912;JN245936;JN245937;JN245938;JN245939;JN245940;JN245941;JN245942;JN245943;JN245944;JN245945;NM_001029989;NM_014736 AAH05832;AAH07101;AAH16782;AAQ09604;AAT06735;ADQ32391;AEW89488;AEW89489;AEW89490;AEW89491;AEW89492;AEW89495;AEW89496;AEW89498;AEW89499;AEW89500;AEW89501;AEW89502;AEW89503;AEW89504;AEW89505;AEW89506;AEW89507;AEW89508;AEW89509;AEW89510;AEW89512;AEW89513;AEW89514;AEW89516;AEW89517;AEW89518;AEW89560;AEW89561;AEW89562;AEW89563;AEW89564;AEW89565;AEW89566;AEW89567;AEW89568;AEW89569;BAA03491;BAF83437;EAW77679;NP_001025160;NP_055551;Q15004 Hs.81892 1673183;2114649;2178465;2182070;5014051;5037552 D8S2278;D8S2279;RH17375;RH25328;SHGC-12485;STS-T77881 FLJ58702;L5;NS5ATP9;OEATC;OEATC-1;OEATC1;PAF;PAF15;p15(PAF);p15/PAF;p15PAF HCV NS5A-transactivated protein 9;OTTHUMP00000163974;PCNA-associated factor;PCNA-associated factor of 15 kDa;hepatitis C virus NS5A-transactivated protein 9;overexpressed in anaplastic thyroid carcinoma 1;p15PAF protein-coding ENSG00000166803 28961 13778 610696 VALIDATED 1353765 KIAA0141 KIAA0141 5 5 5 q31.3 137380524 137398745 + 141283593 141299901 + 141303385 141321612 + 1580863;6480464 10942595;15489334;15146197;14702039;12477932;8590280;20563667;17207965;20877624 9812 D6RBI8;H0YA48;Q14154 AA760689;ABBA01026392;ABBA01026393;AC005740;AK093504;AK292869;AMYH01015662;BC007855;BC010452;BC011269;BC011926;BC035486;CH471062;CN307416;D50931;NM_001142603;NM_014773 AAH07855;AAH10452;AAH11269;AAH11926;ADQ32459;BAA09490;BAF85558;EAW61899;NP_001136075;NP_055588;Q14154 Hs.210532 1645005;1647074;1656959;1740379;1740381;1740415;1767497;2123537;5016298 D5S2203E;D5S2205E;D5S2228E;D5S2653;RH25364;RH77999;SGC33577;WI-22005;WI-22559 DELE OTTHUMP00000160068;OTTHUMP00000222777;OTTHUMP00000222778;death ligand signal enhancer;hypothetical protein LOC9812;uncharacterized protein KIAA0141, mitochondrial protein-coding ENSG00000081791 28969 13780 VALIDATED 1602497 KIAA0232 KIAA0232 4 4 4 p16.1 6708296 6787947 + 6835360 6936800 + 6784459 6885899 + 6480464 17081983;16344560;14702039;12477932;12168954;9039502;16169070;20936779;22139419 9778 A5YKK5;D6REK0;Q92628 ABBA01012729;ABBA01012730;ABBA01012731;AC106045;AF143884;AK124715;AMYH01013920;BC150286;BU618566;CH471131;CR457160;D86985;DA137144;DA652967;EF553521;NM_001100590;NM_014743 AAD32701;AAI50287;ABQ66267;BAA13221;CAG33441;EAW82378;NP_001094060;NP_055558;Q92628 Hs.79276 1335860;1779188;1849170;2156276;2158461;2163195;2164033;2171982;2180381 AFM292ya5;D4S1239;D4S2531E;D4S3007;SHGC-30532;SHGC-50915;SHGC-59523;SHGC-67386;SHGC-67847 OTTHUMP00000217448;hypothetical protein LOC9778;uncharacterized protein KIAA0232 protein-coding ENSG00000170871 28992 11070 VALIDATED 1605409 KIAA0195 KIAA0195 17 17 17 q25.1 70046681 70090404 + 70964259 71008128 + 73452664 73496533 + 6480464 16344560;15489334;15146197;14702039;12477932;9110174;8724849;8619474;20379614;21139048;21890473 9772 C9JL75;J3KRN3;J3KRU7;J3KS76;J3KT63;J3KTL5;J3QLC5;J3QLM7;J3QQW3;J3QRT3;J3QRT7;J3QRY7;J3QS17;J3QS24;J3QSG7;Q12767 ABBA01028788;ABBA01028789;ABBA01028790;ABBA01028791;ABBA01028792;ABBA01028793;ABBA01028794;AC100787;AF070545;AK094864;AK128508;AK294526;AK304819;AK308160;AK316060;AMYH01008634;AMYH01008635;BC042942;BC045540;CH471099;CN307648;CR936809;D83779;DA193442;DB545285;H06743;NM_014738 AAC28636;AAH45540;BAA12108;BAG57737;BAG65567;BAH14431;EAW89274;EAW89275;EAW89276;EAW89277;NP_055553;Q12767 Hs.514474 1686118;1758679;1761815;2153425 RH25408;RH71445;SHGC-145769;SHGC-149140 DKFZp781M1056;FLJ37545;TMEM94 hypothetical protein LOC9772;transmembrane protein 94;uncharacterized protein KIAA0195 protein-coding ENSG00000177728 28983 11068 VALIDATED 1348294 KIAA0319 KIAA0319 This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 6 6 p22.3-p22.2 24652311 24754362 - 24544332 24646383 - 6480464;7240710 18063668;17846832;19588467;19419997;19362708;19325871;18829873;18810304;17597587;17450541;17033633;16600991;15717286;15514892;14574404;12834540;12477932;12421765;9915954;9205841;7939663;16344560;19679544;20068590;20846247;20923822;20943657;22683091;21104116;21203818;21207242;21457949;21934641;22262880;22326444;22558177;23065966 9856 Q9Y4G7 AB002317;ABBA01066536;ABBA01066537;ABBA01066538;AF086065;AK295008;AK296310;AK296426;AK307503;AK310289;AL031230;AL031775;AL044313;AL512385;AMYH01016151;BC140821;BC144628;BC152460;BX646625;CH471087;DA316925;DA808234;NG_016206;NM_001168374;NM_001168375;NM_001168376;NM_001168377;NM_001252328;NM_014809 AAI40822;AAI44629;AAI52461;BAA20777;BAG58068;BAG59008;BAG59087;EAW55455;EAW55456;EAW55457;NP_001161846;NP_001161847;NP_001161848;NP_001161849;NP_001239257;NP_055624;Q5VV43 Hs.26441 1336614;1338417;1671929;1716795;1767651;1789603;1792872;2114567;2124865;2125371;2133851;2158061;7188001;7191085 A004P20;D6S105;D6S2298;D6S276;D6S461;JA04;PMC166143P8;RH121692;RH45845;RH46742;STS-Z40603;WI-12499;WI-15728 DLX2;DYLX2;DYX2;MGC176717 OTTHUMP00000016089;dyslexia susceptibility 2;dyslexia-associated protein KIAA0319 APPROVED protein-coding ENSG00000137261 21580 18713 600202;609269 REVIEWED 1605096 KIAA0196 KIAA0196 This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009] 8 8 q24.13 126105684 126173243 - 126036502 126104061 - 6480464;7240710 17160902;16344560;15489334;14603436;12665801;12477932;9973294;8724849;8125298;20833645;20339536;19922875;20376207;20379614;20301727;22863883;22939629;20923837;21139048;21890473;21906983;21963094;23000965;20360068;22118674;23085491 9897 E5RFU6;E7EQI7;Q12768 ABBA01037908;AC009908;AC126366;AI266595;AK223628;AK291032;AK296970;AMYH01019010;BC026951;BC106015;CH471060;D83780;DA185885;NG_012636;NM_014846 AAH26951;AAI06016;BAA12109;BAD97348;BAF83721;BAG59514;EAW92080;EAW92081;EAW92082;NP_055661;Q12768 Hs.270043 1337130;1338323;1668810;1727043;1752093;1854107;2133943;2133945;2137667;2147245;5120977 A006G23;AFMA122XE9;D8S1483;D8S1774;D8S1804;D8S1932;G20790;G62920;RH25409;RH47109;SHGC-106032 MGC111053;SPG8 OTTHUMP00000228149;OTTHUMP00000228150;OTTHUMP00000228151;WASH complex subunit strumpellin;strumpellin APPROVED protein-coding ENSG00000164961 28984 13786 603563;610657 REVIEWED 1312654 KIAA0226L KIAA0226-like 13 13 13 q14.13 27971122 28016591 - 45814137 45859636 - 46916136 46961635 - 6480464 18987618;18649358;16344560;15489334;15057823;14702039;12766061;12477932;8889548;19843677;20562859;23522960;21796628 80183 A8KAG9;A8XR14;B7ZBN5;E7EMA2;G8JLB1;Q5W050;Q8N5J6 ABBA01050986;AK025215;AK093073;AK125750;AK125950;AK293034;AK300183;AK307854;AK310264;AL139801;AMYH01005093;BC004495;BC021097;BC032311;BC043488;BG054617;BM682058;BX401854;BX641126;CD679213;CH471075;DB151884;DB152553;DC330997;NM_025113 AAH04495;AAH43488;BAB15086;BAC86358;BAF85723;BAG52649;BAH13230;EAX08762;EAX08763;EAX08764;NP_079389;Q9H714 Hs.98117 1662929;1680587;1693644;2111524 D13S1499;RH44948;RH98403;SHGC-58563 C13orf18;FLJ21562;FLJ43762 OTTHUMP00000018366;OTTHUMP00000018368;OTTHUMP00000198242;OTTHUMP00000205782;hypothetical protein LOC80183;uncharacterized protein KIAA0226-like APPROVED protein-coding ENSG00000102445 20420 12615 VALIDATED 1349623 KIAA0247 KIAA0247 14 14 14 q24.1 50142416 50245965 + 69148066 69251614 + 70078310 70181861 + 1580863;6480464 15489334;12477932;9039502;17207965;20236627;21619678;19322201;21139048 9766 Q92537 ABBA01030825;ABBA01030826;AK130809;AK309302;AL133445;AL355837;AMYH01005825;BC064697;CH471061;D87434;DC346928;NM_014734 AAH64697;ACE86617;ACE87298;ADQ32970;BAA13378;EAW81001;NP_055549;Q92537 Hs.440025 1659140;1669589;1769078;1777409;2157379;2163459;2163892 D14S877;G35528;G35543;G35551;G35921;G36301;SHGC-33845 OTTHUMP00000245516;hypothetical protein LOC9766;uncharacterized protein KIAA0247 protein-coding ENSG00000100647 19956 10010 VALIDATED 1605339 KIAA0319L KIAA0319-like This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009] 1 1 1 p34.2 34173482 34297431 - 35671678 35795591 - 35899091 36023037 - 6480464 19085271;14702039;12477932;11347906;19578796;20697954 79932 B1AN15;B4DYG9;C9J519;C9JQ56;C9JVB2;E7EN73;F8WAW2;H0Y4S8;Q8WY39 AB058740;ABBA01023339;ABBA01023340;ABBA01023341;AC004865;AF275679;AF289597;AK024287;AK090878;AK097096;AK097107;AK126496;AK302428;AK314605;AK316252;AL356362;AL445211;AL834315;AMYH01000490;AMYH01000491;AY163234;BC001858;BC007645;BC014530;BC031672;BX471865;CH471059;DC369564;NM_024874 AAD05028;AAG24389;AAH01858;AAH07645;AAH14530;AAH31672;AAL55781;AAN61054;BAB14874;BAB47466;BAC03536;BAG37175;BAG63731;BAH14623;CAD38985;EAX07413;EAX07414;EAX07415;EAX07416;NP_079150;Q8IZA0 Hs.456507;Hs.683078 1696558;1781464;2107511;2118513;2154206;2178693;5022651 D11S2921;G09494;PKD1-like__7004;SHGC-112345;SHGC-74573;SHGC-74575;SHGC-78168 FLJ44532;KIAA1837 OTTHUMP00000004589;OTTHUMP00000004590;OTTHUMP00000004591;dyslexia susceptibility 2-like;dyslexia-associated protein KIAA0319-like protein;polycystic kidney disease 1-related APPROVED protein-coding ENSG00000142687 30071 11164 613535 REVIEWED 1322760 KIAA0367 KIAA0367 9 q21.13 78416113 78518458 - 737633 12477932 16288218;17081983;15489334;15164053;12168954;9205841 23273 Q58A63;Q5JUB9;Q5T473;Q5T474;Q5T475 AB002365;AB050197;AL161626;AL359314;AL834213;AY439213;AY439214;BC022571;CH471089;NM_015225 AAH22571;AAR15150;AAR15151;BAA20822;BAD93351;CAI10912;CAI10914;CAI10915;CAI39747;CAI39749;CAI39750;CAI39752;EAW62581;EAW62582;EAW62583;EAW62584;EAW62585;EAW62586;EAW62587;EAW62588;NP_056040;Q58A63;Q5JUB9;Q5T473;Q5T474;Q5T475 Hs.262857 A214N16.3;BMCC1;BNIPXL;bA214N16.3 protein-coding 29019 13797 1318189 KIAA0355 KIAA0355 19 19 19 q13.11 31447207 31548203 + 39437296 39538311 + 34745456 34846471 + 6480464 12477932;11337467;10737800;9205841;20215924;20379614 9710 K7EPA0;O15063 AB002353;ABBA01004331;ABBA01004332;ABBA01004333;ABBA01004334;ABBA01004335;AC010504;AC010614;AC016627;AC092080;AMYH01009712;AMYH01009713;AMYH01009714;AU100313;BC017790;BC104761;BC104763;BC128232;BF760219;NM_014686 AAI04762;AAI04764;AAI28233;BAA20812;NP_055501;O15063 Hs.330073 1689456;1857560;2028988;5022651 D11S2921;REN85498;RH16002;STS-H96891 hypothetical protein LOC9710;uncharacterized protein KIAA0355 protein-coding ENSG00000166398 29016 11077 VALIDATED 1351889 KIAA0513 KIAA0513 16 16 16 q24.1 69363621 69430043 + 83618911 83685337 + 85061410 85127836 + 737633;6480464 12477932 17010949;15489334;9628581;9110174;8619474;18029348;20379614;21832049;22959728 9764 B4DSS5;H3BMU3;H3BNA7;O60268 AB011085;ABBA01016889;ABBA01016890;ABBA01016891;ABBA01016892;ABBA01016893;AC026469;AC092341;AF055005;AK299892;AMYH01007872;BC030280;CH471114;NM_014732;U79288 AAH30280;BAA25439;BAG61737;EAW95460;EAW95461;EAW95462;NP_055547;O60268 Hs.301658 1648672;1648674;1669986;1739637;1749433;1755471;1776215;1793976;2130445;2131777;2152847;2169777;2177381;5015861;7185938 A001Y24;D10S16;D16S3001E;D16S3011;G19785;PMC310711P1;RH68498;SGC30711;SHGC-111165;SHGC-142337;SHGC-60608;SHGC-61159;SHGC-63453;SHGC-63454 hypothetical protein LOC9764;uncharacterized protein KIAA0513 protein-coding ENSG00000135709 29058 17192 611675 VALIDATED 1314598 KIAA0368 KIAA0368 9 9 9 q31.3 84622093 84746150 - 113162794 113286846 - 114122973 114247025 - 737633;6480464 12477932 15496406;15489334;15302935;15164053;14702039;9205841;9110174;8619474;17353931;16189514;20682791;20562859;17643375;20379614;22863883;22939629;22586326;21987572;21139048;21890473;21906983;19193609;21252943;22053931 23392 F6XAQ5;J3KN16;Q5VYK3;Q5VYK5;R4GMY1;R4GMY3 AB002366;ABBA01042731;ABBA01042732;AF052139;AK024705;AK025689;AK027063;AK122712;AK124590;AK127247;AK308313;AL159168;AL354661;AMYH01021641;AMYH01021642;BC021127;NM_001080398 AAH21127;AAI72431;BAA20823;BAG53684;BAG54464;NP_001073867;Q5VYK3 Hs.368255 1335964;1663733;1691316;1849009;1849011;2124879;2185921;5016851;5022594;5024413 A001T21;D9S1008E;D9S105;G19627;L17877;M83638;RH11011;RH79738;RH80031;SGC31712 ECM29;FLJ22036;KIAA1962;RP11-386D8.2 ECM29 homolog, proteasome accessory protein;OTTHUMP00000021908;homolog of yeast Ecm29;proteasome-associated protein ECM29 homolog protein-coding ENSG00000136813 29020 PROVISIONAL 2311475 KIAA0754 KIAA0754 1 1 1 p34.3 38156554 38163532 + 39647763 39654741 + 39875176 39882154 + 6480464 9872452;21139048;21906983 643314 O94854 AB018297;ABBA01023209;AL137853;AMYH01000521;BF514886;NM_015038 BAA34474;NP_055853;O94854 Hs.658760 5014051 D8S2278 FLJ42354 OTTHUMP00000234547;hypothetical protein LOC643314;uncharacterized protein KIAA0754 protein-coding ENSG00000255103 29111 PREDICTED 1604044 KIAA0556 KIAA0556 16 16 16 p12.1 26338803 26569056 + 27468971 27699190 + 27561468 27791692 + 6480464 12477932;12421765;9628581;14702039;19727342;18029348 23247 H3BNJ6;H3BPM2;O60303 AB011128;ABBA01017158;ABBA01017159;ABBA01017160;ABBA01017161;ABBA01017162;AC002551;AC008732;AC016597;AC025275;AC092330;AK097485;AK295261;AK315974;AMYH01007404;AMYH01007405;AMYH01007406;BC041053;BC131508;BC150276;BX472933;CH471145;NM_015202 AAI50277;BAA25482;BAC05073;BAG58250;BAH14345;EAW55743;NP_056017;O60303 Hs.460459 1650977;1660198;1716039;1738569;1744771;1763185;1765313;2120032;2127583 D16S2734;G09319;GDB:568459;L18090;RH120958;RH48346;SHGC-146913;SHGC-148806;SHGC-60736 hypothetical protein LOC23247;uncharacterized protein KIAA0556 protein-coding ENSG00000047578 29068 13806 VALIDATED 1312913 KIAA0391 KIAA0391 14 14 14 q13.2 15455607 15607100 + 34661527 34813022 + 35591527 35743284 + 6480464 19624571;18984158;12477932;9205841;17114934;20953189;15342556;16344560;17213182;21139048;21890473 9692 Q86YB5 AA838769;AB002389;ABBA01061498;ABBA01061499;ABBA01061500;ABBA01061501;AI431599;AK301931;AK303508;AK304066;AL121594;AMYH01005666;BC001542;BC032221;BC044580;BP373829;BQ063741;BX161394;BX161487;CH471078;CX760644;DA459368;DC404874;DT217089;NM_001256678;NM_001256679;NM_001256680;NM_001256681;NM_014672 AAH32221;AAH44580;BAA20845;BAG63351;BAG64540;BAG64973;CAD61881;CAD61937;EAW65878;EAW65879;EAW65880;EAW65881;EAW65882;EAW65883;EAW65884;NP_001243607;NP_001243608;NP_001243609;NP_001243610;NP_055487;O15091 Hs.458487;Hs.739309 1337329;1341898;1750879;1768926;1777516;1854506;2120207;2135177;2137736;2174024;2182587;5016596;5022651;5126381 D10S577;D11S2921;D14S1014;D14S1289;G35479;G35684;G35748;G35869;G36006;G36079;G36298;GDB:631802;RH47252;SHGC-104644 MRPP3;PRORP OTTHUMP00000244840;OTTHUMP00000244863;OTTHUMP00000244874;OTTHUMP00000244876;OTTHUMP00000244909;mitochondrial RNase P protein 3;mitochondrial RNase P subunit 3;mitochondrial ribonuclease P protein 3;proteinaceous RNase P protein-coding ENSG00000100890 19958 18711 609947 VALIDATED 1345855 KIAA0408 KIAA0408 6 6 6 q22.33 128501795 128522779 - 127803428 127838552 - 127759551 127780535 - 6480464 16189514;15489334;14702039;14574404;12477932;9455477;17043677;21900206;21906983 9729 E9PQS0;H0YEM8;Q6ZU52 AB007868;ABBA01025931;AK091424;AK125983;AK127114;AL096711;AL596809;AMYH01016656;BC018396;CH471051;NM_014702 AAH18396;BAA23704;BAC86375;BAG52357;EAW48095;NP_055517;Q6ZU52 Hs.319247 1643899;1653424;1774689;2118325;2121678;2147177;5021872;5022578 D1S1423;RH46655;RH47312;RH65429;SHGC-30315;SHGC-34704;STS-F04688;sY3084 FLJ43995;RP3-403A15.2 OTTHUMP00000017174;OTTHUMP00000232128;OTTHUMP00000232146;hypothetical protein LOC9729;uncharacterized protein KIAA0408 protein-coding 21636 17187 VALIDATED 1605106 KIAA0753 KIAA0753 17 17 17 p13.1 6502636 6565303 - 6422369 6484971 - 6481645 6544247 - 6480464 16344560;12477932;9872452;18029348;21890473;21906983 9851 B7Z6L6;F6SFD5;I3L0P7;I3L1P2;I3L2A7;I3L341;I3L3Y0;Q2KHM9 AB018296;ABBA01054835;ABBA01054836;AC004706;AC015916;AK292876;AK296971;AK300547;AL080108;AMYH01008061;BC017566;BC113016;BC113017;CH471108;DB075150;NM_014804 AAI13017;AAI13018;BAA34473;BAF85565;BAH12465;BAH13302;CAB45712;EAW90303;NP_055619;Q2KHM9 Hs.28070 1337050;1703172;1783472;2128796;2132181;2134315;5017238 D17S1881;RH18356;RH64650;SGC32442;SHGC-130708;SHGC-32950;WIAF-1598 MGC130040;MGC130041 hypothetical protein LOC9851;uncharacterized protein KIAA0753 protein-coding ENSG00000198920 29110 11106 VALIDATED 1605711 KIAA0430 KIAA0430 This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010] 16 16 16 p13.11 15368702 15417500 - 15595745 15644510 - 15688226 15737023 - 6480464 17081983;15932519;15616553;15489334;15146197;14702039;12477932;10493829;9455477;8889548;16344560;20811636;19389623;19322201;21906983;22442484;23090997;22505724 9665 C9JKX0;F8VRS5;F8VVB8;G8JLP4;H0YIB6;Q8WYR2 AB007890;AB012134;ABBA01048899;ABBA01048900;AC026401;AK095840;AK124564;AK302667;AMYH01007182;BC041135;BC064914;BC127740;BC137165;BC137170;BC139919;BC141831;BC144514;BC144515;BU607280;BX510172;CH471226;CN310535;DB360504;NG_021407;NM_001184998;NM_001184999;NM_014647;U95740 AAC31662;AAH64914;AAI37166;AAI37171;AAI44515;AAI44516;BAA24860;BAB82433;BAG63901;EAW53920;EAW53921;EAW53922;EAW53923;NP_001171927;NP_001171928;NP_055462;Q9Y4F3 Hs.173524 1668905;1719445;2108811;2137286 LKAP_8976;RH123441;RH68839;SHGC-60737 A-362G6.1;LKAP;MARF1;PPP1R34 OTTHUMP00000160328;OTTHUMP00000240929;OTTHUMP00000240930;OTTHUMP00000240931;OTTHUMP00000240934;limkain b1;limkain-b1;meiosis arrest female 1;meiosis arrest female protein 1;protein phosphatase 1, regulatory subunit 34 APPROVED protein-coding ENSG00000166783 29562 13992 614593 VALIDATED 2302259 KIAA0895L KIAA0895-like 16 16 16 q22.1 51717749 51726115 - 65767006 65775384 - 67209505 67217883 - 6480464 14702039;12477932 653319 H3BSG6;I3L230;J3KRL4;Q68EN5 ABBA01025432;AC040160;AC074143;AK092303;AK094787;AK096855;AL834156;AMYH01007745;BC007594;BC080183;BC128539;BX460002;CH471092;NM_001040715 AAH07594;AAH80183;AAI28540;BAC03856;CAD38862;EAW83091;NP_001035805;Q68EN5 Hs.651201 2110601;2137781;2140351;2144813;2158249 D16S3308;NOL3_7932;RH41857;RH47869;WI-20202 hypothetical protein LOC653319;uncharacterized protein KIAA0895-like protein-coding ENSG00000196123 34408 VALIDATED 1323087 KIAA0586 KIAA0586 14 14 14 q23.1 38944687 39065541 + 57964463 58085302 + 58894103 59015549 + 6480464 18029348;19144723;16702409;16344560;15489334;15146197;12477932;9628581;23314748;191447;17370265;21139048;21906983;22505724 9786 B4DYW5;B7Z7W7;G3V2T5;G3V4J0;G3V5U9;H0YJF0;Q9BVV6 AB011158;ABBA01018260;ABBA01018261;ABBA01018262;AI223212;AI378482;AK302579;AK302635;AK302718;AK302836;AK310356;AL042761;AL135752;AL139021;AMYH01005761;AMYH01005762;AY359881;BC000900;BC066647;BX097526;CH471061;CN281643;CN308043;DB271535;DC348119;NM_001244189;NM_001244190;NM_001244191;NM_001244192;NM_001244193;NM_014749 AAH00900;AAH66647;AAQ63404;BAA25512;BAG63877;BAG63938;BAG64028;BAH13753;EAW80739;EAW80740;EAW80741;NP_001231118;NP_001231119;NP_001231120;NP_001231121;NP_001231122;NP_055564;Q9BVV6 Hs.232532 1649730;1679666;1736434;2115778;2126156;2137223;2169824;2176529;2181356 D14S575;D14S696E;G30978;G35653;G36042;G36197;RH15628;RH41809;WI-20905 Talpid3 OTTHUMP00000245211;OTTHUMP00000245212;OTTHUMP00000245271;OTTHUMP00000245272;ortholog of chicken talpid{3};protein TALPID3;talpid3 protein;uncharacterized protein KIAA0586 protein-coding ENSG00000100578 19960 11092 610178 VALIDATED 1603687 KIAA0895 KIAA0895 7 7 7 p14.2 36348324 36414291 - 36330284 36396259 - 36363759 36429734 - 6480464 16344560;12477932;10048485;19322201 23366 B4DYW2;C9JGM1;C9JWZ6;E9PE22;Q8NCT3 AACC02000036;AB020702;ABBA01056900;ABBA01056901;ABBA01056902;ABBA01056903;ABBA01056904;ABBA01056905;AC006960;AK293912;AK294686;AK302559;AK302632;AMYH01017181;BC028678;BC056191;BC063658;BC110422;BC136362;BC144032;BE463421;CH236951;CH471073;DB060820;DB462178;DC403070;DC403204;NM_001100425;NM_001199706;NM_001199707;NM_001199708;NM_015314 AAH28678;AAH56191;AAI10423;AAI36363;AAI44033;BAA74918;BAG57296;BAG57847;BAG63825;BAG63874;EAW94064;EAW94065;EAW94066;NP_001093895;NP_001186635;NP_001186636;NP_001186637;NP_056129;Q8NCT3 Hs.6224 1648692;2168905;2175643;2191117;5020948;5022200;5022450;5022578 A002T04;D10S275;D1S1423;G35510;L18426;MARC_14831-14832:1017257326:1;RH12085;RH35996 OTTHUMP00000206975;OTTHUMP00000206977;OTTHUMP00000206978;OTTHUMP00000206979;OTTHUMP00000206980;OTTHUMP00000206982;hypothetical protein LOC23366;uncharacterized protein KIAA0895 protein-coding ENSG00000164542 22206 17197 VALIDATED 1604483 KIAA0825 KIAA0825 5 5 5 q15 89346774 89816202 - 93880919 93980040 - 93486556 93954309 - 15489334;15372022;14702039;12477932;11181995;10048485;20379614;21310492;21832049;22318345 285600 C9J0Q2;Q8IV33 AB020632;ABBA01069268;ABBA01069269;ABBA01069270;ABBA01069271;ABBA01069272;ABBA01069273;ABBA01069274;ABBA01069275;AC010448;AC025766;AC093311;AC104127;AC117521;AK130941;AK308195;AMYH01015486;BC035515;BX648338;CH471084;NM_001145678;NM_173665 AAH35515;BAA74848;BAC85469;EAW96021;EAW96022;EAW96025;NP_001139150;NP_775936;Q8IV33 Hs.425123 1675373;1686674;1697718;1704446;1706594;1712002;1714259;1715027;1720807;1749353;1752541;1752591;1753559;1755091;1851565;2158478;2168767;5014051;5015619;5023543;5037552;5094680 D11S3114;D7S795;D8S2278;D8S2279;G59379;PMC55343P10;PMC55343P12;RH102379;RH118454;RH119908;RH120850;RH80937;RH98532;SHGC-106410;SHGC-106415;SHGC-107492;SHGC-111112;SHGC-142024;SHGC-82693;SHGC-82937;STS-R93123;WI-16828 C5orf36;DKFZp686F0372;FLJ27431;MGC34713 OTTHUMP00000162008;OTTHUMP00000222975;hypothetical protein LOC285600;uncharacterized protein KIAA0825 APPROVED protein-coding ENSG00000185261 28532 11337 VALIDATED 2291767 KIAA1024L KIAA1024-like 5 5 q23.3 129111783 129128655 + 129083884 129100756 + 15372022 100127206 P59773 ABBA01068850;AC008591;AMYH01015606;CH471062;DR731264;NM_001257308 EAW62380;NP_001244237;P59773 Hs.582534 UPF0258 protein KIAA1024-like;hypothetical protein LOC100127206 protein-coding 33914 VALIDATED 1605086 KIAA0907 KIAA0907 1 1 1 q22 128955740 128977072 - 154149460 154170812 - 155882836 155904188 - 6480464 18029348;16189514;12477932;10048485;8125298;19641227;21139048;23144703 22889 Q7Z7F0 AB020714;ABBA01016680;AK225714;AK289902;AL355388;AMYH01001433;AY112680;AY112681;AY112682;BC027182;BC062637;CH471121;NM_014949 AAH27182;AAH62637;AAM51855;AAM51856;AAM51857;BAA74930;BAF82591;EAW53021;EAW53022;EAW53023;NP_055764;Q7Z7F0 Hs.728984 1664279;1709264;1715293;2153465;5014051;5015619;5017266;5022651;5491324 D11S2921;D11S3114;D8S2278;L18506;MARC_9785-9786:996688607:1;RH120477;RH17869;SHGC-34121;SHGC-85823 BLOM7;RP11-336K24.1 OTTHUMP00000015929;OTTHUMP00000015930;OTTHUMP00000015931;UPF0469 protein KIAA0907;nuclear ribonucleoprotein K homology domain protein protein-coding ENSG00000132680 29145 17198 PROVISIONAL 1604047 KIAA0922 KIAA0922 4 4 4 q31.3 151681405 151882587 + 154607002 154777313 + 154387498 154557863 + 6480464 16344560;14702039;12477932;11230166;10231032;22505724 23240 A2VDJ0;B3KU55;F8WEQ2;H0Y2M0 AB023139;ABBA01070140;ABBA01070141;ABBA01070142;AC106865;AC116648;AK001454;AK092270;AK096538;AK128028;AK308448;AL136932;AMYH01014629;BC044932;BC131505;BQ270562;CH471056;DA778851;NM_001131007;NM_015196 A2VDJ0;AAH44932;AAI31506;BAA76766;BAG50915;BAG52515;BAG53317;CAB66866;EAX04956;EAX04957;EAX04958;EAX04959;NP_001124479;NP_056011 Hs.732450 1657774;1670720;1695214;1695476;1695514;1715049;1716697;1726919;1775393;1787834;1853684;1853686;2121752;2125418;2127801;2145954;2167023;2181031;5093022 A009E20;G32474;G34295;G62703;RH119476;RH121607;SHGC-12258;SHGC-173518;SHGC-24451;SHGC-37299;SHGC-50460;SHGC-50737;SHGC-62919;SHGC-68222;SHGC-68396;SHGC-68612;SHGC4-1534;STS-H60892;STS-N58226 DKFZp586H1322;FLJ10592;TMEM131L OTTHUMP00000203505;OTTHUMP00000203506;OTTHUMP00000205136;transmembrane protein 131-like protein-coding ENSG00000121210 29146 13823 VALIDATED 1604043 KIAA1024 KIAA1024 15 15 15 q25.1 56661717 56701948 + 77511913 77551697 + 79724858 79764642 + 6480464 12477932;12168954;10470851;9110174;8619474 23251 H0YNN7;Q9UPX6 AB028947;ABBA01060608;ABBA01060609;ABBA01060610;AC105231;AF035294;AMYH01006846;BC144700;BC152466;CH471136;NM_015206 AAI52467;AAI60103;BAA82976;EAW99137;NP_056021;Q9UPX6 Hs.301654 1672918 WI-14737 UPF0258 protein KIAA1024;hypothetical protein LOC23251 protein-coding ENSG00000169330 29172 17206 VALIDATED 2311267 KIAA0947 KIAA0947 5 5 5 p15.32 5448998 5516538 + 5475807 5543338 + 5422786 5490347 + 6480464 14702039;12477932;10231032;19615732;21900206;16344560 23379 Q9Y2F5 AB023164;ABBA01016136;AC010253;AC012607;AC091978;AK024400;AK025279;AK095073;AK096615;AK130025;AL137260;AL832204;AMYH01014877;BC004902;BC041002;BX538020;CR749441;DA217623;NM_015325 AAH04902;BAA76791;CAB70661;CAD97966;CAH18279;NP_056140;Q9Y2F5 Hs.449296 1739071;2114510 D5S1786;RH77699 DKFZp781J2344 OTTHUMP00000220508;hypothetical protein LOC23379;uncharacterized protein KIAA0947 protein-coding ENSG00000164151 29154 VALIDATED 1312287 KIAA0930 KIAA0930 22 22 22 q13.31 29499561 29548119 - 43966787 44015314 - 45588123 45636650 - 6480464 17353931;15489334;15461802;15324660;14702039;12477932;10591208;10231032;9110174;8619474;19615732;21832049;21890473 23313 B0AZU2;B0QY16;B0QY18;B0QY20;F8WD08;H7C1U5;Q6ICG6 AB023147;ABBA01007129;ABBA01007130;AI830875;AK025608;AK094359;AK094937;AK124648;AK297058;AK309015;AK315883;AL008718;AMYH01012846;AMYH01012847;AY007105;BC016882;BC038414;BC053595;CH471138;CR456402;NM_001009880;NM_015264 AAH16882;AAH38414;AAH53595;BAA76774;BAC85917;BAF98774;BAG52960;BAH12486;CAG30288;CAK54391;CAK54690;EAW73374;EAW73375;EAW73376;NP_001009880;NP_056079;Q6ICG6 Hs.592207 1666059;1739665;2127597;2135353;2189555;5022450;5109281 A006N35;D10S275;D1S1425;D22S1121E;SHGC-16601;STS-Z40753;UniSTS:237369 C22orf9 OTTHUMP00000199521;OTTHUMP00000199522;OTTHUMP00000199523;OTTHUMP00000199524;hypothetical protein LOC23313;uncharacterized protein KIAA0930 APPROVED protein-coding ENSG00000100364 1314 12802 VALIDATED 1316522 KIAA1009 KIAA1009 6 6 6 q14.3 85267314 85370685 - 84890679 84994054 - 84833960 84937335 - 6480464 16302001;14702039;12522145;12477932;11827452;10231032;11521196;17353931;18029348;21139048;22779921;23455924;17370265;23644468 22832 F6V2J0;Q5TB80 AB023226;ABBA01040461;ABBA01040462;ABBA01040463;AK023613;AK308190;AL138742;AMYH01016472;AMYH01016473;AW069289;BC063632;CH471051;DC424230;NM_014895 AAI66703;BAA76853;BAG51210;EAW48644;EAW48645;NP_055710;Q5TB80 Hs.485865 1655145;1663163;1707398;1719157;1724371;2156184 RH122349;RH123296;RH18542;RH35873;SHGC-84483;WI-22202 C6orf84;CEP162;FLJ13551;QN1 OTTHUMP00000016806;OTTHUMP00000196885;centrosomal protein of 162 kDa;chromosome 6 open reading frame 84;protein QN1 homolog protein-coding ENSG00000135315 21107 10796 610201 VALIDATED 1344341 KIAA1109 KIAA1109 This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009] 4 4 q27 123311208 123503357 + 123091758 123283914 + 737633;6480464 12477932 22876110;20453842;19302705;18311140;17999365;17558408;16545529;16386706;14702039;10718198;10470851;8125298;16632497;17554300;18418394;18840430;19061490;19430480;19455118;20190752;20197757;20553587;17190194;19640479;21139048;22118674;23128233 84162 H0Y781;H3BLT5;H7C070;H7C0G8;H7C0Y8;H7C121;H7C2X5;H7C3N8;Q9NT48 AB029032;AB037792;ABBA01044734;AC022489;AC104658;AC127089;AK024043;AK025057;AK095216;AK124902;AK127686;AK127698;AK129931;AK225886;AK303483;AK309063;AL137254;AL137384;AL137532;AL833461;AMYH01014492;BC018094;BC032408;BC045783;BC108274;CA413044;CH471056;CR936613;DQ335469;NG_015813;NM_015312 AAH18094;AAH45783;AAI08275;AAY41044;ABC59821;BAA83061;BAA92609;BAB15057;BAC85988;BAC87084;BAG51255;BAG54552;BAG64519;CAB70656;CAB70718;CAB70795;CAI56756;EAX05239;EAX05240;EAX05241;NP_056127;Q2LD37 Hs.408142 1645863;1718151;1735354;2126977;2143089;2181348;5094122 D4S2477E;D4S2628;D4S3100;G54558;RH122843;SHGC-50429;SHGC-67953 DKFZp781P0474;FSA;MGC110967;Tweek OTTHUMP00000196356;fragile site-associated protein;uncharacterized protein KIAA1109 APPROVED protein-coding ENSG00000138688 26953 611565 REVIEWED 1342853 KIAA1045 KIAA1045 9 9 9 p13.3 34889783 34914129 + 34948192 34972541 + 34958192 34982541 + 1580863;6480464 12477932;15164053;10470851 23349 Q9UPV7 AB028968;ABBA01065002;AK294342;AL137621;AL355377;AMYH01019341;AY956806;AY956807;AY956808;BC041169;CH471071;NM_015297 AAX51884;AAX51885;AAX51886;BAA82997;BAH11739;EAW58408;NP_056112;Q9UPV7 Hs.7989 1668214;1683886;1683888;1739939;1775845;1847324;2159722;2176012 Cda1ch12;D9S1757;RH35829;RH74775;RH74776;SHGC-35868;STS-H40431;WI-13627 DKFZp434I2112;RP11-392A14.4 OTTHUMP00000021312;OTTHUMP00000021313;hypothetical protein LOC23349;protein KIAA1045 protein-coding ENSG00000122733 29180 VALIDATED 1604036 KIAA1107 KIAA1107 1 1 1 p22.1 90879002 90896679 + 92632609 92650280 + 92632609 92650280 + 6480464 12477932;10470851;21900206 23285 E9PEZ5;Q9UPP5 AB029030;ABBA01045551;AC104836;AF017090;AK302496;AMYH01000794;AMYH01000795;BC037317;BX108841;DC331933;EG328259;NM_015237 AAC28132;AAH37317;BAA83059;BAG63780;NP_056052;Q9UPP5 Hs.21554 1664603;1781864;2144256 SHGC-75146;SHGC-86300;WI-13478 OTTHUMP00000011946;hypothetical protein LOC23285;uncharacterized protein KIAA1107 protein-coding ENSG00000069712 29192 VALIDATED 2301934 KIAA1210 KIAA1210 X X X q24 118667349 118739298 - 118096626 118168570 - 118212598 118284542 - 18029348;15772651;10574462 57481 Q9ULL0 AB033036;ABBA01036715;ABBA01036716;ABBA01036717;ABBA01036718;ABBA01036719;ABBA01036720;ABBA01036721;ABBA01036722;ABBA01036723;ABBA01036724;AL441887;AL590376;AL772284;AMYH01022879;BX099098;DT932686;DV080213;NM_020721 BAA86524;NP_065772;Q9ULL0 Hs.97594 RP13-347D8.3 OTTHUMP00000223055;hypothetical protein LOC57481;uncharacterized protein KIAA1210 protein-coding ENSG00000250423 29218 VALIDATED 1603694 KIAA1033 KIAA1033 12 12 12 q24.11 105165774 105227195 + 104025622 104087038 + 105501492 105562908 + 6480464 10470851;15489334;14702039;12477932;19922875;20376207;22863883;22939629;20923837;20360068;21139048;21906983;21963094;21498477 23325 F8VNZ5;F8VQX3;F8VYH7;F8W1W1;Q2M389;R4GMM5 AB028956;ABBA01053186;ABBA01053187;AC016257;AF075010;AK001657;AK001728;AK023146;AK026950;AK027218;AL137753;AMYH01004719;BC012556;BC031358;BC040936;BC104992;BC104994;BC110850;BC143373;CH471054;NM_015275 AAH31358;AAH40936;AAI04993;AAI04995;AAI10851;AAI43374;BAA82985;BAA91816;EAW97758;EAW97759;EAW97760;EAW97761;NP_056090;Q2M389 Hs.12144 1680926;1700830;1722331;2156315;2156317;5015961;5037552 D15S1477;D5S2644;D8S2279;G60233;RH104040;RH79600;WIAF-1520 SWIP OTTHUMP00000242238;WASH complex subunit 7;strumpellin and WASH-interacting protein protein-coding ENSG00000136051 29174 13829 VALIDATED 1320364 KIAA1161 KIAA1161 9 9 9 p13.3 34300413 34308399 - 34358907 34366894 - 34368907 34376894 - 6480464 19204726;12477932;10574461;22268729 57462 Q6NSJ0 AB032987;ABBA01065012;AL356494;AMYH01019335;AMYH01019336;BC070098;BC110493;CB988183;CH471071;NM_020702 AAH70098;AAI10494;BAA86475;EAW58460;NP_065753;Q6NSJ0 Hs.522083 2135461;5019042 G43513;WI-20524 NET37 OTTHUMP00000021254;hypothetical protein LOC57462;uncharacterized family 31 glucosidase KIAA1161 protein-coding 19918 17208 VALIDATED 1603618 KIAA1147 KIAA1147 7 7 7 q34 136078159 136123586 - 141002997 141048422 - 141356528 141401953 - 6480464 12477932;10574461;16751776;21890473 57189 A4D1U4;C9J7X6 AACC02000020;AB032973;ABBA01034108;ABBA01034109;AC004918;AC211775;AF116707;AF136629;AMYH01017997;AMYH01017998;BC012493;CH236950;CH471070;DQ597625;NM_001080392 A4D1U4;AAF71127;AAH12493;AAI56554;AAI72537;BAA86461;EAL24019;EAW83974;NP_001073861 Hs.521240 1649325;1649327;1686404;1735670;1777216;2111206;2115708;2130685;2138757;2151029;2180807;5014057 A002B37;D1S3699;D7S2047E;D7S2132E;D7S810E;G19900;GDB:193149;GDB:4585087;RH18340;RH99114;WI-11397;WI-14889 LCHN;PRO2561 OTTHUMP00000212267;OTTHUMP00000212268;predicted protein of HQ2561;protein LCHN protein-coding ENSG00000257093 29472 VALIDATED 1601743 KIAA1191 KIAA1191 5 5 5 q35.2 172713646 172729390 + 175705671 175721415 - 175773065 175788809 - 6480464 8125298;12477932;10574461;10565538;18541383;16169070;18482256;17207965;21832049;21153684;17032350;21078624;21900206;21044950 57179 D6RAJ7;D6RCE3;D6RF63;E9PKI5;Q96A73 AB033017;ABBA01033501;AC138956;AK315428;AL390217;AL567350;AL832558;AMYH01015859;BC006316;BC010448;BC012848;BC017097;BX648859;CH471195;CR457331;DQ073392;NM_001079684;NM_001079685;NM_020444 AAH06316;AAH10448;AAH12848;AAH17097;AAY82896;ACE86692;ACE87376;ADQ31901;BAA86505;BAG37816;CAB99231;CAG33612;CAH56134;EAW85087;EAW85088;EAW85089;EAW85090;EAW85091;EAW85092;EAW85093;EAW85094;EAW85095;EAW85096;NP_001073152;NP_001073153;NP_065177;Q96A73 Hs.743257 1683627;1757681;2146106;2153753;2158442;5015619;5037552 D11S3114;D8S2279;G20706;RH41058;SGC30272;SHGC-146224;WI-13355 FLJ21022;p60MONOX OTTHUMP00000161238;OTTHUMP00000223265;OTTHUMP00000223266;UPF0498 protein KIAA1191;brain-derived rescue factor p60MONOX;flavin monooxygenase motif-containing protein of 33 kDa;flavine monooxygenase motif-containing protein of 33 kDa;hypothetical protein LOC57179;putative monooxygenase p33MONOX protein-coding ENSG00000122203 29209 13839 VALIDATED 1603203 KIAA1239 KIAA1239 4 4 4 p14 37686844 37890948 + 36923085 37127482 + 37246690 37451087 + 10574462;9847074;20379614 57495 Q9ULI1 AB033065;ABBA01074301;ABBA01074302;AC022463;AC104690;AC107400;AMYH01014111;NM_001144990 BAA86553;NP_001138462;Q9ULI1 Hs.4280 1644554;1645811;1646668;1654640;1663391;1665317;1685838;1707832;1765129;1780170;1785094;1785096;2133567;2135700;2135702;2143191;2149161;2170623;2170657 D4S1067;D4S2711;D4S596;D4S756;G34392;SHGC-148650;SHGC-154542;SHGC-155096;SHGC-155097;SHGC-19222;SHGC-34520;SHGC-50282;SHGC-50334;SHGC-59605;SHGC-67692;SHGC-82145;SHGC-8606;STS-D59406;STS-D60378 OTTHUMP00000211519;hypothetical protein LOC57495;leucine-rich repeat and WD repeat-containing protein KIAA1239 protein-coding ENSG00000174145 29229 VALIDATED 1352431 KIAA1217 KIAA1217 10 10 10 p12.31 23671793 24528691 + 24023681 24876778 + 23983675 24836772 + 737633;6480464 12477932 19338451;16189514;14702039;10574462;20379614;20585627;22107760;21628590;20125193 56243 A6NLF3;F5H1Q3;Q5T5P0;Q5T5P1;Q6MZZ6 AB033043;AB291616;ABBA01034449;ABBA01034450;ABBA01034451;ABBA01034452;ABBA01034453;ABBA01034454;ABBA01034455;ABBA01034456;ABBA01034457;ABBA01034458;ABBA01034459;ABBA01034460;ABBA01034461;AC063961;AK021984;AK024199;AK055179;AK091142;AK096446;AK125675;AK300422;AK303905;AL157473;AL157781;AL353583;AL353650;AL355977;AL356113;AL356477;AL391499;AL392104;AL833280;AMYH01002190;AMYH01002191;AMYH01002192;AMYH01002193;AMYH01002194;BC017424;BC018764;BC098577;BC136521;BC144227;BX640796;BX648451;CH471072;NM_001098500;NM_001098501;NM_019590 AAH18764;AAH98577;AAI36522;AAI44228;BAA86531;BAC86241;BAF63529;BAG62149;BAG64835;CAB75668;CAE45879;EAW86123;EAW86124;EAW86125;NP_001091970;NP_001091971;NP_062536;Q5T5P2 Hs.445885 1299888;1336798;1337066;1337901;1339095;1341962;1342166;1649643;1671736;1684620;1684870;1698112;1705694;1714309;1716529;1716837;1716969;1717399;1725531;1752559;1755517;1761507;1762419;1766651;1768139;1780216;1789232;1856212;1856902;2149834;2151766;2151778;2159704;2183023;7186372;7187427;7187961 AFM290XE1;D10S1139;D10S1567;D10S1592;D10S1673;D10S1747;D10S1749;D10S550;D10S582;D10S586;G10340;G17481;G65614;RH102588;RH119164;RH119934;RH121550;RH121712;RH121865;RH122190;RH91497;RH93031;SGC38272;SHGC-106427;SHGC-142376;SHGC-145514;SHGC-146251;SHGC-149944;SHGC-154635;SHGC-17223;SHGC-5927;SHGC-83428;WI-11237;WI-17512 DKFZp761L0424;MGC31990;RP11-324E23.1;SKT OTTHUMP00000019313;OTTHUMP00000019314;OTTHUMP00000019316;OTTHUMP00000019317;OTTHUMP00000019318;OTTHUMP00000196692;OTTHUMP00000196693;OTTHUMP00000196694;likely orthologue of Mus musculus enhancer trap locus 4;sickle tail protein homolog protein-coding ENSG00000120549 25428 11132 VALIDATED 1606528 KIAA1143 KIAA1143 3 3 3 p21.31 44728223 44741161 - 44769530 44778158 - 44790236 44803173 - 6480464 17081983;16344560;15489334;12477932;10574461;8889548;21832049 57456 Q96AT1 AB032969;ABBA01024737;AC098649;AK289549;AMYH01013123;BC008468;BC016790;BC070360;BU741967;CH471055;CS300590;DA183520;DA192476;NM_020696 AAH08468;AAH16790;BAA86457;BAF82238;CAK32254;EAW64722;EAW64723;NP_065747;Q96AT1 Hs.476082 1687658;1688991;1694816;2154969;5014051;5015621;5022651;5037552 D11S2921;D11S3732;D3S4052;D8S2278;D8S2279;G43639;RH11250;RH68393 OTTHUMP00000164118;hypothetical protein LOC57456;uncharacterized protein KIAA1143 protein-coding ENSG00000163807 29198 13833 VALIDATED 1313176 KIAA1199 KIAA1199 15 15 15 q24 58009220 58181481 + 78858767 79031054 + 81071712 81243999 + 6480464 21443102;15489334;14577002;22276102;19434458;16406369;16157444;12477932;12471561;12421765;11247670;10574462;21145461;20379614;21772334;23509262 57214 H0YCE1;H0YL56;Q8WUJ3 AB033025;AB103330;ABBA01060631;ABBA01060632;AC023302;AC027808;AK000465;AK026540;AK027058;AL049389;AL109718;AL359061;AMYH01006851;AMYH01006852;AY007811;AY581148;AY581149;BC020256;CH471136;NM_018689 AAG41059;AAH20256;AAU06219;AAU06220;BAA86513;BAD02451;CAB94391;EAW99111;NP_061159;Q8WUJ3 Hs.459088 1336902;1340811;1341919;1658892;1664497;1699298;1718929;1759195;1764701;1764911;1766097;1788718;1854560;2176278;2179452;5127596 D15S1037;D15S1047;D15S211;D15S551;D15S667;G10241;RH103235;RH123171;RH136636;RH48315;RH78992;SHGC-148291;SHGC-148471;SHGC-149480;SHGC-2207;SHGC-31169 CCSP1;TMEM2L OTTHUMP00000185569;OTTHUMP00000195036;OTTHUMP00000195037;colon cancer secreted protein 1;protein KIAA1199;transmembrane protein 2-like protein-coding ENSG00000103888 29213 10519 608366 VALIDATED 1602270 KIAA1211L KIAA1211-like 2 2 2 q11.2 93615445 93757699 - 98776741 98919116 - 99410309 99552684 - 6480464 12477932;19416921;20379614 343990 C9JDX0;C9JFM2;C9JK00;C9JXD6;Q6NV74 ABBA01073962;ABBA01073963;ABBA01073964;AC084377;AMYH01010799;AMYH01010800;AMYH01010801;BC068277;BM922097;CF593294;CH471127;NM_207362 AAH68277;EAX01894;EAX01895;NP_997245;Q6NV74 Hs.469398 1651187;1701160;1711968;1747965;1777364;1784068;1787678 G66767;RH104208;RH118430;RH45398;SHGC-146666;SHGC-156155;WI-16262 C2orf55;MGC42367 OTTHUMP00000203286;hypothetical protein LOC343990;uncharacterized protein C2orf55;uncharacterized protein KIAA1211-like APPROVED protein-coding ENSG00000196872 33454 14620 VALIDATED 2303430 KIAA1211 KIAA1211 4 4 4 q12 54542821 54703255 + 56731118 56891647 + 57036361 57196890 + 6480464 14702039;12477932;11230166;10574462;23314748 57482 F5H1N7;Q6ZU35;R4GNI9 AB033037;ABBA01003420;ABBA01003421;AC022267;AC068620;AK097530;AK126014;AK302486;AL110138;AL133028;AL137336;AMYH01014194;BC144536;BC150615;BC171783;NM_020722 AAI44537;AAI50616;AAI67851;AAI71783;BAA86525;BAC86392;BAG63771;CAB61360;CAB70699;NP_065773;Q6ZU35 Hs.596667 1647077;1670772;1675866;1853069;1853071;2111123;2117162;2166738;2185133 D4S1495E;D4S260;G09535;G34122;RH94148;SHGC-18324;SHGC-50836;STS-N21336;STS-N35889 DKFZp564H1363 OTTHUMP00000218888;OTTHUMP00000218923;hypothetical protein LOC57482;uncharacterized protein KIAA1211 protein-coding 29219 VALIDATED 1603021 KIAA1257 KIAA1257 3 3 3 q21.3 127121958 127145162 - 130172475 130195676 - 128689779 128712986 - 18579725;16344560;14702039;12477932;10574462;20379614 57501 D6RH05;Q9ULG3 AB033083;ABBA01020918;AC112484;AK056377;AMYH01013468;BC031632;BC038736;DB086263;DB095211;NM_020741 AAH31632;AAH38736;BAA86571;NP_065792;Q9ULG3 Hs.518247 1687516;1784858;5015861;5015961;7185938 D10S16;D15S1477;RH93217;SHGC-156125 OTTHUMP00000217114;OTTHUMP00000217115;OTTHUMP00000217116;hypothetical protein LOC57501;uncharacterized protein KIAA1257 protein-coding 29231 PREDICTED 1320499 KIAA1244 KIAA1244 6 6 6 q23.3 139223168 139405937 + 138524917 138701629 + 138483053 138665800 + 6480464 19496786;14702039;12477932;10737800;10574462;11551928;8889548;19389623 57221 C5NM88;Q5TH69 AB033070;AB252196;ABBA01025809;ABBA01025810;ABBA01025811;ABBA01025812;AF413080;AK000682;AK021955;AK056626;AK124312;AL031003;AL031433;AL391240;AMYH01016702;AW300603;BC022980;BC137174;BF332780;BF744369;BF943924;BU682567;BX640863;CH471051;DT932721;NM_020340 AAH22980;AAI37175;AAL04174;BAA86558;BAH83562;CAE45924;EAW47918;NP_065073;Q5TH69 Hs.194408 1651026;1651363;1666660;1678377;1776585;1789146;1853216;1856009;1858251;2120088;2143734;2184305;5037552 A002U24;D6S1080;D6S1144E;D8S2279;G65718;RH1527;RH18421;RH37433;RH46752;RH94257;SHGC-32063;SHGC-53488;WI-14023 A7322;ARFGEF3;C6orf92;FLJ32064;PPP1R33;RP3-422G23.4;dJ171N11.1;dJ55C23.6 OTTHUMP00000017295;brefeldin A-inhibited guanine nucleotide-exchange protein 3;protein phosphatase 1, regulatory subunit 33 protein-coding ENSG00000112379 21213 13845 VALIDATED 1343837 KIAA1328 KIAA1328 18 18 18 q12.2 31218516 31615191 + 32663078 33059286 + 34409080 34805288 + 6480464 15489336;12477932;11230166;11076863;10718198;16381901;15656913;20936779 57536 F5GYZ7;K7EJ61;K7EM46;K7EP66;M0QYQ2;Q86T90 AB037749;ABBA01022423;ABBA01022424;ABBA01022425;ABBA01022426;ABBA01022427;AC009854;AC015961;AC016493;AC023577;AK292288;AK304230;AL832625;AMYH01008940;BC008670;BC037903;BC045585;BX648875;CH471088;NM_020776 AAH08670;AAH37903;AAI46692;BAA92566;BAF84977;BAG65099;CAD89947;CAL37981;CAL38258;EAX01387;NP_065827;Q86T90 Hs.4045 1341942;1728117;1750149;1759345;2150918;5022588;5037552 D18S1160;D5S1597E;D8S2279;G63330;RH66345;SHGC-112273;SHGC-150925 hinderin;uncharacterized protein KIAA1328 protein-coding ENSG00000150477 29248 17211 VALIDATED 1606254 KIAA1324 KIAA1324 Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cellular response to stress (PMID: 21072319). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 107925989 108018762 + 109458056 109547377 + 109656585 109749403 + 6480464 16322283;16344560;14702039;12975309;12477932;10718198;20379614;16712791;21102415;21072319 57535 B4DWM4;E9PB18;E9PIF6;E9PLQ2;E9PLY8;E9PMS2;E9PS21;H0YDD2;Q6UXG2 AB037745;ABBA01068372;ABBA01068373;ABBA01068374;ABBA01068375;ABBA01068376;AI923722;AJ512825;AJ512826;AK026832;AK057647;AK122934;AK297221;AK297478;AK301598;AK304003;AL138933;AL356389;AMYH01000929;AY358366;BC031648;BC125208;BQ101251;CA775143;CB142078;CD108482;CD360008;CH471122;DA998586;DC402202;NG_032763;NM_001267048;NM_001267049;NM_020775;NR_049773;NR_049774 AAI25209;AAQ88732;BAA92562;BAG59704;BAG59899;BAG63086;BAG64920;CAD55147;CAD55148;EAW56359;EAW56360;EAW56361;EAW56362;EAW56363;NP_001253977;NP_001253978;NP_065826;Q6UXG2 Hs.708190 1667906;1750151;1779436;5015619;5016596;5016781;5022200;5022651;5037552 D11S2921;D11S3114;D8S2279;GDB:631802;L18426;SHGC-112274;SHGC-153417;SHGC-17442;SHGC-67307 EIG121;MGC150624;RP11-352P4.1 OTTHUMP00000013429;OTTHUMP00000013430;OTTHUMP00000013431;OTTHUMP00000233619;OTTHUMP00000233620;UPF0577 protein KIAA1324;estrogen induced gene 121;estrogen-induced gene 121 protein;hypothetical protein LOC57535;maba1 APPROVED protein-coding 29618 13850 611298 REVIEWED 1603535 KIAA1324L KIAA1324-like 7 7 7 q21.12 81210196 81394037 - 86347174 86507467 - 86506222 86689014 - 6480464 14702039;12690205;12477932;16344560;8889548;21177533;17475571 222223 A8MWY0;C9JA41;C9JFK7;F1LLU5;H7BYL8;H7BZ34;H7C2N5 AACC02000015;ABBA01045869;AC000122;AC002081;AC004519;AI797353;AK055902;AK296250;AK303619;AMYH01017667;BC117309;BM675231;BX346336;CH236949;CH471091;DA240191;DB500778;DB502291;DY654933;NM_001142749;NM_152748;NR_030672 A8MWY0;AAI17310;BAB71041;BAG58965;BAG64628;EAL24181;EAW76969;NP_001136221;NP_689961 Hs.208093 1334981;1696820;1696822;1725335;1732083;1778625;1856064;2161144;2163706;7186801 D7S2481;D7S822;G49154;G49155;GDB:1318010;GDB:1318244;RH118985;RH45487;SHGC-56127 EIG121L;FLJ31340;hEIG121L EIG121-like;OTTHUMP00000204820;OTTHUMP00000204999;OTTHUMP00000205050;OTTHUMP00000205051;UPF0577 protein KIAA1324-like;estrogen-induced gene 121-like protein;hypothetical protein LOC222223 protein-coding ENSG00000164659 21945 13405 614048 VALIDATED 1316452 KIAA1430 KIAA1430 4 4 4 q35.1 183407734 183452112 - 186317813 186362176 - 186080819 186125182 - 737633;6480464 12477932 14702039;10718198;20360068;22505724 57587 D6RDU8;Q9P2B7 AB037851;ABBA01070528;AC073344;AC093592;AK024878;AK091993;AK130263;AL133615;AMYH01014772;AV709118;BC020772;BC030535;CH471056;NM_020827 AAH20772;AAH30535;AAY40976;BAA92668;BAG52459;CAB63743;EAX04653;EAX04654;NP_065878;Q9P2B7 Hs.535734 1679199;1683241;5014023;5015861;5015961;5020881;5022450;5037552;7185938 D10S16;D10S275;D13S1553;D15S1477;D8S2279;L17709;RH92979;SHGC-67845 DKFZp434F1728;FLJ21225 OTTHUMP00000218267;UPF0501 protein KIAA1430;hypothetical protein LOC57587 protein-coding ENSG00000164323 29276 VALIDATED 1317800 KIAA1279 KIAA1279 This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010] 10 10 10 q22.1 64024346 64052614 + 70418499 70446744 + 70748477 70776739 + 6480464;7240710 16225668;16189514;17353931;16713569;15883926;15489334;15164054;12477932;10574462;16344560;16385451;22863883;23383273;21139048;21890473;21044950;22797925 26128 Q96EK5 AA913814;AB033105;ABBA01019596;ABBA01019597;AI491993;AK291343;AL050190;AL359844;AMYH01002805;AMYH01002806;BC006427;BC012180;CH471083;DA292451;NG_017061;NM_015634 AAH12180;BAA86593;BAF84032;CAB43311;EAW54308;NP_056449;Q96EK5 Hs.279580 1672785;2130869;2130871;5092352 A005Q41;G20424;G49388;SHGC-36771 DKFZp586B0923;KBP;TTC20 KIF1-binding protein;OTTHUMP00000019712 APPROVED protein-coding ENSG00000198954 23419 13848 609367;609460 REVIEWED 1346091 KIAA1462 KIAA1462 10 10 10 p11.23 30066704 30113471 - 30343390 30376806 - 30301729 30348488 - 737633;6480464 12477932 14702039;10819331;21088011;19204726;21378988;21884682 57608 Q9P266 AB040895;ABBA01034353;ABBA01034354;AK055602;AK074200;AK308850;AL050154;AL158036;AL583916;AMYH01002215;BC047548;BC071601;BC153865;BX648192;BX648263;BX648773;CB988996;CH471072;NM_020848 AAH47548;BAA95986;CAC29500;CAI46027;EAW86016;EAW86017;NP_065899;Q9P266 Hs.533953 1644896;1668794;1683920;1686496;1743189;1846755;2117156;2124813;2142173;2142175;5020319;5022137 A006B30;D10S1863;G09472;G20680;GDB:293953;RH92028;RH92192;SHGC-53401;STS-AA027219;STS-R63343;WI-13418;WI-16935 JCAD OTTHUMP00000019390;hypothetical protein LOC57608;junctional protein associated with coronary artery disease;uncharacterized protein KIAA1462 protein-coding ENSG00000165757 29283 614398 VALIDATED 1350923 KIAA1407 KIAA1407 3 3 3 q13.31 112091432 112183887 - 115165674 115258150 - 113682984 113775460 - 6480464 10718198;12477932;21903422 57577 B4DYL1;C9JA89;F8WCI8;F8WF68;H7C553;Q8NCU4 AB037828;ABBA01061640;AC092896;AC128687;AF509494;AK125304;AK295855;AK302488;AMYH01013398;BC150592;CH471052;NM_020817 AAI67836;AAM34297;BAA92645;BAG58661;BAG63773;EAW79615;NP_065868;Q8NCU4 Hs.477159 1675084;1688550;2178737;2179216 RH92357;SGC33607;SHGC-16540;SHGC-77181 FLJ43314 OTTHUMP00000214924;coiled-coil domain-containing protein KIAA1407;hypothetical protein LOC57577 protein-coding ENSG00000163617 29272 13856 PREDICTED 1316621 KIAA1509 KIAA1509 7240710 57641 236600 1606251 KIAA1377 KIAA1377 11 11 11 q22.1 98946549 99033401 + 101290956 101377003 + 101785746 101871793 + 6480464 12812986;15383276;16169070;15489334;14702039;12477932;12107411;10718198;8889548;21900206;22264561;22321011 57562 F5H5S1;H0YDI0;H0YF13;Q9P2H0 AB037798;ABBA01039954;AK057230;AK095004;AK296350;AK310418;AL045516;AMYH01003990;AMYH01003991;AP003383;BC036525;BC146807;BM690026;BQ267650;BQ637903;BU785174;BX647415;CA848462;CH471065;DB455438;NM_020802 AAI67859;BAA92615;BAG52970;BAG59033;EAW67007;EAW67008;NP_065853;Q9P2H0 Hs.156352 1647700;1676804;1681991;1723181;1789224;2154261;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;G65610;IB1788;RH118457;RH65365;RH92171;RH93179 OTTHUMP00000235687;hypothetical protein LOC57562;uncharacterized protein KIAA1377 protein-coding ENSG00000110318 29264 17212 614634 VALIDATED 1316306 KIAA1468 KIAA1468 18 18 18 q21.33 56573751 56693583 + 58005504 58125335 + 59854524 59974355 + 737633;1580863;6480464 12477932 14702039;11973628;10819331;20379614;22863883;21139048;21890473;21963094 57614 Q96ES0;Q9P260 AA632129;AB040901;ABBA01056190;AC027514;AC090396;AK025228;AK091160;AK315400;AMYH01009047;BC011992;BX648481;CH471096;NM_020854 AAH11992;BAA95992;BAG37793;EAW63120;EAW63121;EAW63122;EAW63123;NP_065905;Q9P260 Hs.465323 1338043;2118024;7186192 D18S60;WI-21772 FLJ33841;HsT3308;HsT885 OTTHUMP00000163668;hypothetical protein LOC57614;lisH domain and HEAT repeat-containing protein KIAA1468 protein-coding ENSG00000134444 29289 13866 VALIDATED 1320674 KIAA1432 KIAA1432 9 9 9 p24.1 5554974 5714045 + 5646654 5764309 + 5629119 5776557 + 6480464 16112082;14702039;12477932;11230166;10718198;21987572;21906983 57589 H0YFD4;H0YFN7;H0YGC4;Q8TEH4 AA250979;AB037853;AB205401;ABBA01065410;ABBA01065411;AK022642;AK074150;AK124394;AL136875;AL136980;AL354744;AMYH01019203;BC023535;BC030576;BC041044;BC136616;BC144296;CH471071;NM_001135920;NM_001206557;NM_020829;R44399 AAH30576;AAI36617;AAI44297;BAA92670;BAB14150;BAB84976;BAE16982;CAB66809;EAW58759;EAW58760;EAW58761;NP_001129392;NP_001193486;NP_065880;Q4ADV7 Hs.211520;Hs.661509 1650244;1672101;1688536;1765207;1773707;1857133 RH45366;RH45769;RH94330;SHGC-148704;STS-N30228;WI-12458 CIP150;FLJ12580;bA207C16.1 OTTHUMP00000021031;OTTHUMP00000021032;OTTHUMP00000214991;connexin 43-interacting protein 150 kDa;connexin-43-interacting protein of 150 kDa;protein RIC1 homolog protein-coding ENSG00000107036 17686 13858 610354 VALIDATED 1605976 KIAA1467 KIAA1467 12 12 12 p13.1 18346197 18385250 + 13088582 13127650 + 13197315 13236383 + 6480464 18029348;12477932;10819331;20379614;21906983 57613 A2RU67;Q69YM1 AB040900;ABBA01067857;AC023790;AK125278;AK294732;AL832902;AMYH01004292;BC030126;BC039267;BC132772;BC132774;CD172292;CH471094;CR936647;NM_020853 A2RU67;AAH39267;AAI32773;AAI32775;BAA95991;BAC86111;BAG57879;CAH10631;CAI56785;EAW96298;NP_065904 Hs.132660 1652593;1730151;1772350;1782696;5015619 A002U45;D11S3114;D12S112E;SHGC-155170;WI-10405 DKFZp781O012 OTTHUMP00000239416;OTTHUMP00000239417;hypothetical protein LOC57613;uncharacterized protein KIAA1467 protein-coding ENSG00000084444 29288 11149 VALIDATED 1603673 KIAA1429 KIAA1429 8 8 8 q22.1 91686588 91751673 - 95569776 95634864 - 95500005 95565746 - 6480464 15302935;15009096;14702039;12477932;10718198;16055720;20811636;22939629;15161933;21139048;21890473;21906983;15998806;21628590;22586326 25962 H0YB68;H0YBN5;H0YC41;Q9NWR3 AA731668;AB037850;ABBA01037454;AC023632;AF116724;AK000668;AK022906;AL117434;AL832487;AMYH01018888;AMYH01018889;BC003701;BC053875;BC069239;BC112288;BC113380;BM462567;CD108987;CH471060;CR627454;NM_015496;NM_183009 AAH03701;AAH69239;AAI12289;AAI13381;AAO15300;BAA91316;BAA92667;BAB14301;CAB55922;CAH10535;CAH10773;EAW91715;EAW91716;EAW91717;NP_056311;NP_892121;Q69YN4 Hs.202238 1643924;1654699;1657581;1668718;1697714;2135763;5014063;5016352;5016781;5019070;5020274;5020948;5111358 D15S1390;G35510;G44334;L18441;L30021;RH102375;RH12270;RH66688;SGC33910;SHGC-36249;SHGC-67307;STS-M78676;WI-14180 DKFZp434I116;DKFZp781B2117;MGC138493;MGC141940;MSTP054;fSAP121 OTTHUMP00000226675;OTTHUMP00000226679;functional spliceosome-associated protein 121;protein virilizer homolog protein-coding ENSG00000164944 24500 10889 VALIDATED 1602871 KIAA1522 KIAA1522 1 1 1 p35.1 31476296 31509393 + 32980099 33013158 + 33207512 33240571 + 6480464 12477932;10819331;21139048;19531213 57648 Q9P206 AB040955;ABBA01023404;AC114489;AI587184;AK298965;AL713671;AL833933;AMYH01000470;BC020306;CH471059;NM_001198972;NM_001198973;NM_020888 AAI56343;BAA96046;BAG61060;CAD28477;EAX07509;EAX07510;NP_001185901;NP_001185902;NP_065939;Q9P206 Hs.591502 1643937;1666576;1854516;2185414 RH64745;SHGC-74542;SHGC-74565;STS-R16166 OTTHUMP00000009761;OTTHUMP00000037516;OTTHUMP00000037517;OTTHUMP00000228547;hypothetical protein LOC57648;uncharacterized protein KIAA1522 protein-coding ENSG00000162522 29301 VALIDATED 1602875 KIAA1456 KIAA1456 8 8 8 p22 11768471 11852572 + 12847554 12931657 + 12803183 12887286 + 6480464 16344560;15489334;14702039;12477932;10819331;17207965;17903295;23381944 57604 E9PK20;F6XBY7;K7EM26;Q8N9K7;Q9P272 AB040889;ABBA01021630;AC135352;AK094299;AK125638;AK296010;AMYH01018527;AW295329;BC016633;BC035082;DA390356;DC334299;DR001645;NM_001099677;NM_020844 AAH16633;ADQ32767;BAA95980;BAC04326;BAG58781;NP_001093147;NP_065895;Q9P272 Hs.202521 1334904;1667968;1754491;1786834;2128530;2190685;2190687;5015619;5015961;5016596;5016700;5037552 D11S3114;D15S1477;D8S1106;D8S1109;D8S12982;D8S12994;D8S2279;D8S492;GDB:631802;RH79802;SHGC-132762;SHGC-172451 C8orf79;FLJ36980;MGC43113;TRM9L OTTHUMP00000229268;hypothetical protein LOC57604;putative methyltransferase KIAA1456 APPROVED protein-coding ENSG00000250305 26725 13862 VALIDATED 1605647 KIAA1614 KIAA1614 1 1 1 q25.3 153989330 154022258 + 179148936 179181862 + 180882313 180915239 + 16344560;14702039;12805274;11181995;10997877 57710 Q5VZ46 AB046834;ABBA01027787;ABBA01027788;AK055739;AK090668;AL162431;AMYH01001543;AY270920;CH471067;DA410555;DA807788;NM_020950 BAB13440;BAG52210;EAW91089;EAW91090;NP_066001;Q5VZ46 Hs.734816 1747071;2181456;5109281 D11S1994;D1S1425;G64939 FLJ32095;RP11-46A10.3 OTTHUMP00000033135;OTTHUMP00000033136;hypothetical protein LOC57710;uncharacterized protein KIAA1614 protein-coding 29327 VALIDATED 2292705 KIAA1549 KIAA1549 The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 7 7 7 q34 133253929 133358429 - 138166666 138255110 - 138516126 138666064 - 6480464 12421765;18974108;14702039;12477932;10997877;20379614;21555518;21696415;22157620;22591444;22814862;17118363 57670 B6HY64;J3QSR7 AACC02000025;AB046769;ABBA01001179;ABBA01001180;AC018663;AC083868;AC093144;AK021793;AK096022;AL136736;AM989467;AM989468;AM989469;AM989470;AM989471;AMYH01017973;BC038232;BC069036;BC091523;CH236950;CR533444;NG_032965;NM_001164665;NM_020910 AAH38232;AAH91523;BAB13375;CAB66670;CAG38475;CAQ43105;CAQ43106;CAQ43107;CAQ43108;CAQ43109;CAQ43110;NP_001158137;NP_065961;Q9HCM3 Hs.605380 1339795;1646037;1710614;1719825;1720693;1759167;1789524;1789530;2149140;2150542;5127907 D7S3184;D7S3187;D7S684;G31009;G59164;GDB:4584984;RH123605;RH48859;SHGC-151133;SHGC-152180;SHGC-84095 FLJ11731;FLJ38703;FLJ40644 OTTHUMP00000211716;OTTHUMP00000211809;UPF0606 protein KIAA1549;hypothetical protein LOC57670 protein-coding ENSG00000122778 22219 613344 VALIDATED 1343416 KIAA1524 KIAA1524 3 3 q13.13 109752094 109790980 - 108268716 108308491 - 1580863;6480464 17632056;18559589;16381901;15489336;14702039;12477932;12118381;11256614;11230166;11076863;10819331;22310977;20964854;19470954;19671842;19959630;21068540;21219591;20842459;21445343;22537152;21490338;22249265;21897396;21575984;22923389;21655278;23383345;18029348;22075943;21987572;22072119;22118674;21139048;21906983;22085493;21140243;21963094;22537901;21874565;21479604;23275123;22053931;22505724;22847158;23178652;23383273 57650 F8WAX6;F8WF26;Q8TCG1 AB040957;ABBA01061703;AC069499;AC092693;AF334474;AK022912;AK056933;AK308315;AK310446;AL713689;AMYH01013382;BC017659;BC063433;BC082961;BC130564;BC136371;CH471052;NM_020890 AAH17659;AAH63433;AAI30565;AAI36372;AAL11632;BAA96048;BAB14305;CAD28489;CAL38128;EAW79723;EAW79724;NP_065941;Q8TCG1 Hs.591308 CIP2A;FLJ12850;MGC163436;p90 OTTHUMP00000214434;OTTHUMP00000214435;cancerous inhibitor of PP2A;p90 autoantigen;protein CIP2A protein-coding ENSG00000163507 29302 11151 610643 VALIDATED 1347565 KIAA1598 KIAA1598 10 10 10 q25.3 112373761 112494434 - 118634298 118754866 - 118642888 118886097 - 737633;6480464 12477932 22863734;17903304;17030985;16344560;14702039;12421765;10997877;22087225;20098747;16385451;18519736;20023658;20379614;22939629;19953087;21139048;21906983;22863883 57698 B7Z7Z9 AB046818;ABBA01062951;ABBA01062952;AC012308;AC023283;AK001984;AK091381;AK091410;AK091578;AK095419;AK095703;AK095709;AK302705;AK304865;AL157479;AL731557;AMYH01003098;AMYH01003099;AMYH01003100;BC022348;BC032303;BE348500;BE897523;BI086871;BX537593;BX648065;CH471066;CR749417;CX783645;DA241212;DC402821;DN993119;EF055487;H17869;NM_001127211;NM_001258298;NM_001258299;NM_001258300;NM_018330 A0MZ66;AAH22348;AAH32303;ABK56022;BAA92019;BAB13424;BAG52345;BAG52384;BAG53052;BAG53109;BAG53110;BAG65603;BAH13785;CAH18259;EAW49434;EAW49435;EAW49436;EAW49437;EAW49438;NP_001120683;NP_001245227;NP_001245228;NP_001245229;NP_060800 Hs.501140 1335681;1679239;1681550;1687349;1713599;1757243;2106127;2113102;2113954;2118397;2124323;2127154;2138625;2182195;5014051;5024543;7185199 AB046045;D10S1327E;D10S1608;D10S187;D10S2192;D10S2460;D1S3690;D6S2903;D8S2278;RH120672;RH68387;RH77773;RH93201;RH98760;SHGC-144664;WI-17869 DKFZp686A0439;MGC40476;SHOOTIN1;shootin-1 OTTHUMP00000020573;shootin-1;shootin1 protein-coding ENSG00000187164 29319 11155 611171 VALIDATED 1343071 KIAA1586 KIAA1586 6 6 6 p12.1 58574474 58583113 + 57019343 57027954 + 56911384 56920023 + 6480464 12477932;10997877;21987572;21890473;21906983 57691 B4DIC2;F5H2N6;Q9HCI6 AB046806;ABBA01050486;AK290988;AK295519;AL450489;AMYH01016369;BC012011;BC029372;BC041125;BF475674;NM_020931 AAH29372;AAH41125;BAB13412;BAF83677;BAG58434;NP_065982;Q9HCI6 Hs.709521 1698236;2169876;5017266 L18506;RH102654;STS-T91050 FLJ30162 OTTHUMP00000016662;hypothetical protein LOC57691;uncharacterized protein KIAA1586;uncharacterized protein LOC57691 protein-coding ENSG00000168116 21360 17218 VALIDATED 1605655 KIAA1551 KIAA1551 12 12 12 p11.21 11934148 11967834 + 32003620 32037308 + 32112353 32146041 + 6480464 17567985;14702039;12477932;10997877;8889548;12421765;20379614;21890473;17043677;22505724 55196 F5H488;J3KPI3;Q9HCM1 AB046771;ABBA01031730;AC016957;AC023050;AK000688;AK000703;AK001514;AK092399;AMYH01004369;AV750733;BC098115;BC114509;BC114956;BC140819;BM711484;BP872820;CA419041;CH471116;NM_018169 AAH98115;AAI14510;AAI14957;AAI40820;BAA91330;BAA91734;BAB13377;EAW88537;EAW88538;NP_060639;Q9HCM1 Hs.445129 1645374;1673498;2151641;2152678 A008O23;RH68096;SHGC-64117;WIAF-2210 C12orf35;FLJ10652;FLJ20696 OTTHUMP00000158617;hypothetical protein LOC55196;uncharacterized protein C12orf35;uncharacterized protein KIAA1551 APPROVED protein-coding ENSG00000174718 25559 07691 VALIDATED 1604377 KIAA1549L KIAA1549-like 11 11 11 p13 33710111 33843151 + 33520453 33652224 + 33563877 33695648 + 6480464 18029348;15489334;14702039;12477932;11181995;16713569;16344560;20936779;21423239 25758 E9PAT2;H0YDE5;Q12914;Q6ZVL6 ABBA01060884;ABBA01060885;ABBA01060886;AK094307;AK124395;AL049575;AL049629;AMYH01003485;BC025668;CH471064;DA034273;NM_012194;U10991 AAA21253;BAC85845;EAW68197;NP_036326;Q6ZVL6 Hs.502266 1660645;1665593;1713057;1724099;1744065;1858558;2107129;2122439;2128205;2131015;2149863;2155093;2160268 D11S1025;D11S1086;D11S1123;D11S2259E;D11S2392;D11S4005;G2__6766;GDB:385460;RH119048;RH120313;RH17994;RH78443;SHGC-30174 C11orf41;C11orf69;FLJ36988;G2;MGC34830 OTTHUMP00000197303;OTTHUMP00000232898;UPF0606 protein C11orf41;UPF0606 protein KIAA1549L;Uncharacterized protein C11orf69;hypothetical protein LOC25758 APPROVED protein-coding ENSG00000110427 24836 612297 VALIDATED 2303456 KIAA1644 KIAA1644 22 22 22 28553938 28622910 - 42970890 43040064 - 44639557 44708731 - 6480464 11258795;14702039;12477932 85352 Q3SXP7 AB051431;ABBA01014596;ABBA01014597;ABBA01014598;AK090953;AL022339;AL031595;AL591914;AL671760;AMYH01012834;BC068280;BC104183;BC104184;NM_001099294 AAI04184;AAI04185;BAB33314;NP_001092764;Q3SXP7 Hs.6829 1677028;1677668;1681927;1719017;1757245;1764623;1778304;1781088;1803050;1821182;1825832;1826310;1829366;1831462;1831922;1839148;1841416;1845254;1845776;2012868;2012878;2012900;2012916;2012920;2012962;2012980;2012986;2012990;2012996;2013010;2013012;2013040;2013050;2013052;2013054;2013076;2013128;2098576;2098578;2098580;2098582;2098596;2098598;2117777;2183569 AL008652;AL021652;ECD02416;ECD11668;ECD14024;ECD14268;ECD15814;ECD16868;ECD17099;ECD20753;ECD21904;ECD23844;ECD24107;REN77363;REN77368;REN77379;REN77387;REN77389;REN77410;REN77420;REN77423;REN77425;REN77428;REN77435;REN77436;REN77450;REN77456;REN77457;REN77458;REN77472;REN77498;RH123214;RH81034;RH8149;RH93869;SHGC-144667;SHGC-148212;STS-H53358;stSG602680;stSG602681;stSG602682;stSG602683;stSG602690;stSG602691;stcN75B3T7 MGC125851;MGC125852 OTTHUMP00000028979;hypothetical protein LOC85352;uncharacterized protein KIAA1644 protein-coding ENSG00000138944 29335 PREDICTED 2311473 KIAA1671 KIAA1671 22 22 22 q11.23 9228329 9397741 + 23740407 23916747 + 25423941 25593415 + 6480464 15289310;14702039;12477932;11258795;21509594;16751776;21890473 85379 Q9BY89 AB051458;ABBA01055166;AI340196;AK025418;AK057551;AL022323;AL832019;AMYH01012674;AMYH01012675;AMYH01012676;BC171801;BU584987;NM_001145206;Z99916 AAI71801;BAB33341;NP_001138678;Q9BY89 Hs.419171 1685546;1732189;2144699;2151692;2151694;5093416;7184831 A002A20;A009O20;D22S1019E;D22S343;G19849;G32705 CTA-221G9.5;OTTHUMP00000198606;hypothetical protein LOC85379;uncharacterized protein KIAA1671 protein-coding ENSG00000197077 29345 VALIDATED 1316340 KIAA1704 KIAA1704 13 13 13 q13-q14 26619807 26658517 + 44461687 44500405 + 45563687 45602405 + 12477932;11214970 55425 Q9P0W6 AB051491;ABBA01021225;ABBA01021226;AF145122;AF245045;AJ420573;AK292493;AK304669;AL359706;AMYH01005084;BC017776;BC032333;BC039586;CH471075;NM_018559 AAF70548;AAG44482;AAH17776;AAH32333;AAH39586;BAB21795;BAF85182;BAG65444;EAX08720;EAX08721;EAX08722;EAX08723;NP_061029;Q8IXQ4 Hs.731811;Hs.744143 1665957;1849665;1854808;2111526;2111698;2149390;2180049 D13S1500;D13S1613;G09572;G09948;SHGC-59895;STS-AA025320;WI-14099 AD029;LSR7;RP11-245H20.2;bA245H20.2 OTTHUMP00000018339;OTTHUMP00000236438;hypothetical protein LOC55425;lipopolysaccharide specific response-7 protein;lipopolysaccharide-specific response protein 7;uncharacterized protein KIAA1704 protein-coding ENSG00000133114 20298 17225 PREDICTED 1351264 KIAA1618 KIAA1618 17 q25.3 75849262 75909858 + 7240710 12477932;12112524;10997877;15489334;14702039 57714 Q9H932 AB046838;AC123764;AC124319;AF397204;AF397205;AK023113;AL832920;BC035987;BC036891;BC040341;CH471099;NM_020954 AAH36891;AAH40341;AAN63520;AAN63521;BAB13444;BAB14411;CAH10615;EAW89593;EAW89594;NP_066005;Q9H932;Q9HCF4 Hs.514554 protein-coding 19047 11156 607151 1353790 KIAA1683 KIAA1683 19 19 19 p13.1 18269630 18287045 - 18228908 18246235 - 18367906 18385319 - 6480464 11256614;16381901;16344560;16189514;15489336;15489334;15302935;14702039;12477932;11230166;11214970;11076863;20379614;20800603;21139048 80726 A0JP07;Q9H0B3 AB051470;ABBA01051255;AC008397;AK057466;AK093064;AK095765;AK095771;AK302431;AL136867;AMYH01009587;BC034327;BC112932;BC127099;BC127100;BQ006839;CH471106;DB078391;DC403083;NM_001145304;NM_001145305;NM_025249 AAH34327;AAI12933;AAI27100;AAI27101;BAB21774;BAB71500;BAG63734;CAB66801;CAL37433;EAW84681;NP_001138776;NP_001138777;NP_079525;Q9H0B3 Hs.732366 1731377;1732095 D19S256;D19S460 MGC131731 uncharacterized protein KIAA1683 protein-coding ENSG00000130518 29350 13882 VALIDATED 1602084 KIAA1731 KIAA1731 11 11 11 q21 90686257 90754974 + 93394816 93463522 + 93394816 93463522 + 6480464 14702039;12477932;11214970;11181995;20379614;20844083;17043677;21987572;21906983;22505724 85459 E9PJG3;E9PJY3;E9PM20;H0YDK0;Q9C0D2 AA747565;AB051518;ABBA01040043;ABBA01040044;AK057804;AK095218;AK095859;AK098232;AMYH01003958;AMYH01003959;AP001273;AP003499;BC015989;BC017394;CH471065;DW414641;NM_033395 BAB21822;BAB71582;BAC04502;BAC04638;BAC05264;EAW66906;EAW66907;EAW66908;EAW66909;EAW66910;NP_203753;Q9C0D2 Hs.458418 1675686;2138824 RH35;RH48903 FLJ40913 OTTHUMP00000235956;centrosomal protein KIAA1731;hypothetical protein LOC85459 protein-coding ENSG00000166004 29366 VALIDATED 1604563 KIAA1751 KIAA1751 1 1 1 p36.33 658422 708504 + 1874612 1925136 - 1884752 1935276 - 6480464 11214970;12477932;21555518 85452 Q9C0B2 AB051538;ABBA01016080;ABBA01016081;AK127388;AL109917;AL391845;AMYH01000162;BC139754;NM_001080484 AAI39755;BAB21842;BAC86954;NP_001073953;Q9C0B2 Hs.232092 1709090;1761953;5020948;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;G35510;L18426;SHGC-145889;SHGC-85696 FLJ45476;RP1-140A9.6 OTTHUMP00000214968;hypothetical protein LOC85452;uncharacterized protein KIAA1751 protein-coding 29368 PREDICTED 1323819 KIAA1715 KIAA1715 2 2 2 q31 170399546 170476159 - 176498656 176575264 - 176790410 176867018 - 6480464 15489334;17353931;12732147;17081983;14702039;12477932;11214970;19322201;22729086;21890473;22699663;23251661 80856 B7ZLA8;C9JL94;C9JM95;F5H2Q7;H7BZA1;Q9C0E8 AB051502;ABBA01062212;ABBA01062213;AC016751;AC016915;AK056532;AK096916;AK301947;AK302833;AL832947;AMYH01011292;BC031530;BC064661;BC105132;BC105134;BC110329;BC143681;BC143683;BG702450;CH471058;CR936742;NM_030650 AAH31530;AAI05133;AAI05135;AAI10330;AAI43682;AAI43684;BAB21806;BAB71207;BAH13591;BAH13815;CAH56306;EAX11098;EAX11099;NP_085153;Q9C0E8 Hs.209561 1298319;1676196;1681548;1707858;1734934;1747095;2151562;5015961 AI666268;D15S1477;D2S1697E;D2S1983;D2S2314;RH48765;RH80932;SHGC-82164 DKFZp686G1442;LNP;MGC102862;Ul;ulnaless 2310011O18Rik;4921514L11Rik;Lunapark;OTTHUMP00000205099;protein lunapark protein-coding 21610 13886 610236 VALIDATED 1601920 KIAA1875 KIAA1875 The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [provided by RefSeq, Oct 2008] 8 8 8 q24.3 141500152 141510742 + 145234623 145245206 + 145162629 145173218 + 14702039;11347906;16169070 340390 A6NE52;E9PKB8 AB058778;ABBA01005225;AC104592;AI567202;AK095597;AK124611;AK302485;AL137446;AMYH01019127;BI757563;NR_024207 A6NE52;BAB47504;BAC85899;BAG63770;CAB70740 Hs.98723 1689937;2124587 RH65611;RH79825 APPROVED miscrna ENSG00000179698 26959 11168 VALIDATED 1601734 KIAA1804 mixed lineage kinase 4 1 1 1 q42 206733713 206791106 + 231530137 231587517 + 233463514 233520894 + 2293875;6480464 17306896 18029348;16710414;11347906;12477932;20936779;21441570;23319808;21602844;22699663 84451 Q5TCX8 AB058707;ABBA01033075;AJ311797;AJ311798;AL133380;AMYH01001829;BC136648;BC136649;CH471098;NM_032435 AAI36649;AAI36650;BAB47433;CAC84639;CAC84640;EAW69987;EAW69988;NP_115811;Q5TCX8 Hs.547779 1680499;1705388 RH93433;SHGC-83555 MLK4;RP5-862P8.2;dJ862P8.3 OTTHUMP00000036006;mitogen-activated protein kinase kinase kinase;mitogen-activated protein kinase kinase kinase MLK4 protein-coding ENSG00000143674 10087 614793 VALIDATED 2289756 KIAA1755 KIAA1755 20 20 20 q11.23 33547688 33597961 - 36272321 36322588 - 36838907 36889174 - 14702039;12477932;11214970;20379614 85449 Q5JYT7;Q5JYT8 AB051542;ABBA01006639;ABBA01006640;ABBA01006641;AK096202;AL031651;AMYH01011904;BC011516;BC029137;BC047031;CH471077;NM_001029864 BAB21846;EAW76037;EAW76038;EAW76039;NP_001025035;Q5JYT7 Hs.472690 1667484;1684702;2144853;2146250;2157580 D20S458;G18082;RH28471;Z94455;Z94470 RP5-1054A22.3 OTTHUMP00000030955;hypothetical protein LOC85449;uncharacterized protein KIAA1755 protein-coding ENSG00000149633 29372 PREDICTED 6766486 KIAA1984-AS1 KIAA1984 antisense RNA 1 9 q34.3 139698379 139703300 - 11181995;14702039;16344560 100131193 Q96NE7 ABBA01022721;ABBA01022722;AK055547;AL355987;AMYH01021874;CH471090;DA710348;NG_031950;NR_024580 BAB70952;EAW88280 Hs.734812 APPROVED miscrna ENSG00000228544 44105 VALIDATED 1319859 KIAA1737 KIAA1737 14 14 14 q24.3 57603166 57622223 + 76634331 76653383 + 77564578 77583630 + 6480464 18029348;15489334;14702039;12477932;11214970;21145461;17207965;19322201 85457 G3V310;G3V3Y7;G3V405;G3V4V0;G3V5J4;G3V5Y7;Q9C0C6 AB051524;ABBA01030663;AC007375;AC007686;AK024737;AK096603;AK315124;AL834514;AMYH01005878;BC037300;BI546511;CH471061;NM_033426 AAH37300;ADQ31804;BAB21828;BAG37578;BAG53337;CAD39170;EAW81269;EAW81270;NP_219494;Q9C0C6 Hs.709066 1856206;2163546;5109281 A004X08;D1S1425;WI-15644 OTTHUMP00000246526;OTTHUMP00000246529;OTTHUMP00000246530;OTTHUMP00000246531;hypothetical protein LOC85457;uncharacterized protein KIAA1737 protein-coding ENSG00000198894 20365 13890 VALIDATED 1350546 KIAA1984 KIAA1984 9 9 9 q34.3 110204424 110215961 + 138810623 138822014 + 139690790 139702193 + 737633;6480464 12477932 14702039;11853319;16344560;16582619;21048031 84960 G5E9W6;Q5T5S1;Q96IG8 ABBA01022721;AK090683;AK092639;AL355987;AMYH01021874;AW572474;BC064582;BC137317;BC137318;BF979345;DA235138;DB446839;NM_001039374 AAH64582;AAI37318;AAI37319;BAC03504;BAC03931;NP_001034463;Q5T5S1 Hs.728796 MGC15438;PARF;RP11-216L13.7;RP11-216L13.9;bA216L13.7 OTTHUMP00000215032;OTTHUMP00000215033;hypothetical protein LOC84960;uncharacterized coiled-coil domain-containing protein KIAA1984 protein-coding ENSG00000213213 28236 17234 VALIDATED 1602969 KIAA2018 KIAA2018 3 3 3 q13.2 111775805 111824038 - 114849922 114898183 - 113367232 113415493 - 6480464 11181995;20936779;22504420 205717 C9JBW0;Q68DE3 AB095938;ABBA01061651;AC055740;AC108693;AMYH01013396;BC043383;BX537728;CH471052;CR749439;NM_001009899 BAC23114;CAD97821;CAH18277;EAW79632;NP_001009899;Q68DE3 Hs.632570 1652557;1686710;1708524;1734262;1856879;2111218;2145535;2154043;2154373;5020946;5024413;5037552 A003P34;A004O36;D3S2753E;D3S430;D8S2279;L17877;L17971;RH93538;SGC33336;SHGC-59898;SHGC-77185;SHGC-85037 DKFZp781O0144 K06A9.1-like;OTTHUMP00000214838;OTTHUMP00000214839;basic helix-loop-helix domain-containing protein KIAA2018;hypothetical protein LOC205717 protein-coding ENSG00000176542 30494 13912 VALIDATED 1606998 KIAA1841 KIAA1841 2 2 2 q14 61136600 61208762 + 61146867 61218673 + 61293006 61365169 + 6480464 19240061;16344560;12477932;11347906;21832049;22412388;23128233 84542 F8VWD7;F8VY72;Q6NSI8 AB058744;ABBA01075343;ABBA01075344;ABBA01075345;ABBA01075346;AC016747;AK131267;AK309749;AL833595;AMYH01010379;AW088127;BC039298;BC070104;BX647395;CA421892;CH471053;DA222969;DB086916;DB090584;NM_001129993;NM_032506 AAH39298;AAH70104;BAB47470;BAD18445;EAX00013;EAX00014;EAX00015;EAX00016;NP_001123465;NP_115895;Q6NSI8 Hs.468653 1339092;1727445;1759767;1846861;1857899;5015961;5022578;5022651;5037552;5096013 D11S2921;D15S1477;D1S1423;D2S2332;D2S2927;D8S2279;G33174;G62980;HSC0PG092;SHGC-150972 MGC39557 KIAA1841 protein;OTTHUMP00000159790;OTTHUMP00000201313;uncharacterized protein KIAA1841 protein-coding ENSG00000162929 29387 13896 VALIDATED 1321427 KIAA1919 KIAA1919 6 6 6 q22 112327041 112336824 + 111687175 111696956 + 111580482 111590263 + 6480464 16344560;14702039;12590146;12477932;11572484 91749 B3KSA1;Q5TF39 AB067506;ABBA01026092;AF161363;AI096577;AI151460;AK093136;AK292735;AK315016;AL080317;AMYH01016591;BC036115;BG697347;CH471051;DB024559;DB027926;DB202540;NM_153369 AAF28923;AAH36115;BAB67812;BAF85424;BAG52663;EAW48296;NP_699200;Q5TF39 Hs.400572 5014051;5022200;5022450;5022651;5024039;5037552 D10S275;D11S2921;D16S325;D8S2278;D8S2279;L18426 MFSD4B;MGC33953;NaGLT1 OTTHUMP00000017021;sodium-dependent glucose transporter 1 protein-coding 21053 13904 VALIDATED 1322143 KIAA1958 KIAA1958 9 9 9 q32 85748149 85921746 + 114289069 114462527 + 115249248 115422706 + 6480464 17081983;15489334;15302935;15164053;14702039;12477932;11853319;20379614;21693764 158405 B7ZKW6;Q8N8K9 AB075838;ABBA01042697;AK056181;AK096613;AL162732;AL390067;AL445187;AMYH01021647;AMYH01021648;BC105048;BC113515;BC143372;BC143424;CH471105;NM_133465 AAI05049;AAI13516;AAI43425;BAB71114;BAB85544;BAC04827;EAW59109;EAW59110;NP_597722;Q8N8K9 Hs.656619 1646960;1662356;1677552;1679453;1695170;1735898;2133674;2154440;2176489 D9S1037E;D9S2072;G31003;G48225;RH48718;RH69993;RH92524;RH93310;WI-22223 FLJ39294;MGC142075 OTTHUMP00000021938;hypothetical protein LOC158405;uncharacterized protein KIAA1958 protein-coding ENSG00000165185 23427 11173 PREDICTED 1602668 KIAA2013 KIAA2013 1 1 1 p36.22 11093784 11100143 - 11902709 11909067 - 11979645 11986485 - 6480464 12477932;15146197;22939629;21906983;19322201;22190034 90231 Q8IYS2 AB095933;ABBA01003062;AL021155;AL096840;AL833697;AL833891;AMYH01000258;AMYH01000259;BC004501;BC035033;CH471130;CN260339;NM_138346 AAH04501;AAH35033;BAC23109;CAD38747;EAW71720;EAW71721;EAW71722;EAW71723;NP_612355;Q8IYS2 Hs.520094 1656053;1675100 SHGC-32783;SHGC-74227 MGC33867;RP5-1077B9.1 KIAA2013 protein;OTTHUMP00000002508;uncharacterized protein KIAA2013 protein-coding ENSG00000116685 28513 14576 VALIDATED 1603497 KIAA2022 KIAA2022 An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.[provided by RefSeq, Mar 2009] X X X q13.3 74236153 74428748 - 73870137 74061709 - 73952691 74145287 - 6480464 18029348;16344560;15772651;15466006;12477932;20811636;22531377;23615299 340533 H7C2N8;Q5QGS0 AB095942;ABBA01059504;ABBA01059505;ABBA01059506;ABBA01059507;ABBA01059508;ABBA01059509;ABBA01059510;ABBA01059511;ABBA01059512;ABBA01059513;ABBA01059514;ABBA01059515;ABBA01059516;ABBA01059517;ABBA01059518;ABBA01059519;ABBA01059520;ABBA01059521;ABBA01059522;ABBA01059523;ABBA01059524;ABBA01059525;AI167637;AK128651;AK307471;AL139395;AL390035;AMYH01022615;AY563507;BC038798;BC152557;CH471104;DA776009;NG_027726;NM_001008537 AAI52558;AAI67807;AAT67985;BAC23118;EAW98638;NP_001008537;Q5QGS0 Hs.124128 1337269;1341445;1654208;1654986;1679095;1767250;2141366;2148939;2161650;2172355 A002N28;A006V02;AF020127;AF020169;DXS7722;DXS8037;DXS8092;G35474;RH18195;RH36660 OTTHUMP00000023576;hypothetical protein LOC340533;uncharacterized protein KIAA2022 APPROVED protein-coding ENSG00000050030 29433 15957 300524 VALIDATED 1323134 KIAA2026 KIAA2026 9 9 9 p24.1 5856503 5945514 - 5909008 5998003 - 5919008 6008003 - 6480464 16713569;15164053;14702039;12477932;20936779;22118674 158358 F5H4E5;H0YFF4;H0YGV4;Q5HYC2 AB095946;ABBA01065405;ABBA01065406;ABBA01065407;AL162384;AL353606;AL365360;AL833370;AMYH01019203;AMYH01019204;BC136846;BX648372;CH471071;DY655479;NM_001017969 AAI36847;BAC23122;CAI45993;EAW58754;NP_001017969;Q5HYC2 Hs.535060 1663918;1732135;2186701 D9S1645;NIB1019;SHGC-53633 OTTHUMP00000239409;OTTHUMP00000239411;putative uncharacterized protein ENSP00000382813;uncharacterized protein KIAA2026 protein-coding ENSG00000183354 23378 18566 PREDICTED 1605357 KIAA1967 KIAA1967 8 8 p22 22518202 22533929 + 22462145 22477984 + 6480464 17314511;17353931;17332742;15824730;19126541;18418069;18235502;18235501;17473282;17081983;16381901;15489336;15489334;15345747;15302935;14743216;14702039;12477932;12370419;11853319;11230166;11076863;11256614;16344560;17643375;19131338;19218236;19509139;19657230;20071779;20160719;23352644;21030595;20562859;20479123;20074560;22863883;22939629;21987572;14676191;20360068;21081666;22127596;22446626;12938929;19471022;21139048;21890473;21906983;22145905;21252943;22586326;21628590;21145461;22553202;17266347;19738201;21963094;22365833;22623428;22735644;22751105;23000965;23349634;22190034;22505724 57805 E5RFJ3;E5RGU7;E5RHH8;E5RHJ4;G3V119;H0YB24;H0YC58;H0YC69;Q9H9Q9 AB075847;ABBA01005525;ABBA01005526;AC037459;AF293335;AK022661;AK095712;AK096547;AK314535;AL137523;AL834162;AL834351;AL834352;AMYH01018567;BC003172;BC018269;BC065495;BI561261;BX390251;BX640952;CH471080;DA110888;DA721640;HD117867;HH735892;NM_021174;NR_033902 AAG02472;AAH18269;AAH65495;BAB14163;BAB85553;BAG37126;BAG53111;CAB70788;CAD38866;CAD39016;CAD39017;CAE45976;CAL37584;CAL38698;CBW53721;CBX74356;EAW63658;EAW63659;EAW63660;EAW63661;EAW63662;NP_066997;Q8N163 Hs.744848 1338205;1643972;1671169;1688110;1698432;1699706;1700144;1701274;1708846;1723159;1723959;1739867;1761799;2118441;2142426;2151764;2152812;2183760;2191355 AFMa239ze1;D9S1141;D9S1753;D9S195;MARC_17851-17852:1025010471:1;RH102761;RH103458;RH103685;RH104266;RH118929;RH123764;RH48987;RH79699;SHGC-145759;SHGC-81095;STS-H96791;STS-Z41452;T16063;WI-13592 DBC-1;DBC1;NET35;p30 DBC;p30DBC DBC.1;DBIRD complex subunit KIAA1967;OTTHUMP00000225106;OTTHUMP00000225109;deleted in breast cancer 1;deleted in breast cancer gene 1 protein;p30 DBC protein;protein KIAA1967 protein-coding ENSG00000158941 23360 09159 607359 VALIDATED 732181 KIDINS220 kinase D-interacting substrate, 220kDa 2 2 p24 8786511 8895181 - 8868987 8977755 - 6480464;6907045 9069267;16284401;18539593;18501627;18089783;18048355;17079733;16344560;15378608;15167895;14971036;14702039;12477932;11150334;10998417;10574462;16169070;21381019;21507922;21343931;22562556;21697133;19738201;21963094;22053931;23000965;23359496;21139048;21890473;21906983;23118350;23333500;22609016 57498 E9PH70;F8WAY8;H0Y8E4;H7C584;Q7Z322;Q9ULH0 AB033076;AB621829;ABBA01015572;ABBA01015573;AC012495;AI088931;AK022873;AK023926;AK025528;AK057125;AK074254;AK294464;AK294832;AK295358;AK296459;AL133620;AL137553;AMYH01010091;BC039409;BC094714;BC130610;BX538189;BX640878;CH471053;DA507846;NM_020738 AAH94714;AAI30611;BAA86564;BAB14285;BAB14728;BAG57695;BAG57942;BAG58324;BAG59106;BAK64164;CAB63746;CAB70807;CAD98059;CAE45935;EAX01014;EAX01015;EAX01016;NP_065789;Q9ULH0 Hs.9873 1680098;1715461;1730287;1771592;2120900;7184896;7187105 D2S184E;D2S2504;RH120895;RH64923;WI-18247 ARMS;MGC163482 OTTHUMP00000200338;OTTHUMP00000214111;OTTHUMP00000214113;OTTHUMP00000214115;OTTHUMP00000214116;ankyrin repeat-rich membrane spanning;ankyrin repeat-rich membrane-spanning protein;kinase D-interacting substrate of 220 kDa protein-coding ENSG00000134313 29508 17235 VALIDATED 1349792 KIF13B kinesin family member 13B 8 8 8 p12 27884538 28080223 - 28980714 29176529 - 28924795 29120610 - 1580863;6480464 21145461;10859302;12496241;17696365;16864656;16344560;12477932;9734811;21057110;20339536;19615732;20194617;20201926;20379614;20811636;16147992;23319000;19094064 23303 B4DGY5;E5RK06;E7ERX9;F2Z2F9;H0YBA8;Q9NQT8 AB014539;ABBA01005614;ABBA01005615;AC084262;AC103830;AC108449;AF279865;AI760125;AK000240;AK129580;AK294837;AK307848;AL583912;AMYH01018606;AMYH01018607;AMYH01018608;AMYH01018609;BC005977;BC014350;BC028056;BC051859;CH471080;DA068190;DA437040;NM_015254 AAF81263;AAH05977;AAI72411;BAA31614;BAG57946;CAC29496;EAW63486;EAW63487;EAW63488;EAW63489;EAW63490;EAW63491;NP_056069;Q9NQT8 Hs.444767 1647870;1653704;1667271;1671720;1689288;1697898;1718893;1720651;1721527;1747855;1760305;1856893;1857137;1858030;2116057;2137063;2169605;2174498;2174586;5022014;5093634 A008Q36;A009U09;G32834;G59135;G59618;G66850;KIF13B;RH102477;RH123152;RH45199;RH77858;RH92687;SHGC-132937;SHGC-3342;SHGC-36290;SHGC-52529;SHGC-5760;SHGC-5779;WI-14186;WI-16549;WI-21790 GAKIN;KIAA0639 OTTHUMP00000225649;guanylate kinase associated kinesin;kinesin 13B;kinesin-like protein GAKIN;kinesin-like protein KIF13B protein-coding ENSG00000197892 14405 09556 607350 VALIDATED 1318282 KIF12 kinesin family member 12 KIF12 is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM, Mar 2008] 9 9 9 q32 87501219 87508638 - 115893739 115901158 - 116853918 116861337 - 1580863;6480464 15643526;15489334;15164053;12477932;9275178;22889924;20237496 113220 B1ALC3;Q96FN5;R4GN27 ABBA01042678;AL137850;AMYH01021671;BC010626;BC036824;CH471090;NM_138424 AAH10626;EAW87405;EAW87406;EAW87407;EAW87408;EAW87409;EAW87410;NP_612433;Q96FN5 Hs.28149 1847404;2172644;2191099 A008C07;MARC_14577-14578:1009483106:1;RH78789 RP11-56P10.3 OTTHUMP00000021965;OTTHUMP00000021966;kinesin-like protein KIF12 APPROVED protein-coding ENSG00000136883 21495 13914 611278 PROVISIONAL 1321678 KIF14 kinesin family member 14 KIF14 is a member of the kinesin superfamily of microtubule-associated motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM, Mar 2008] 1 1 q32.1 198787930 198856485 - 200520625 200589862 - 1580863;6480464 19190782;19123481;17962437;17545527;17203973;17099872;17081983;16648480;16570270;16431929;15897902;12477932;9275178;7584044;16820410;19509238;19609547;20306291;23209302;22586326;19596686;20309963;20360068;21139048;21890473;21618518;22999822 9928 Q15058 ABBA01027551;AL445483;AMYH01001637;BC098582;BC113742;BC144068;CH471067;CQ971990;D26361;HH961790;NM_014875 AAH98582;AAI13743;ADR83299;BAA05392;CAI40582;CBX51368;EAW91315;EAW91316;EAW91317;NP_055690;Q15058 Hs.3104 1649107;1680996;1682301;1755135;2109449;2138704;2152282;2167864;5015619;5022450 AL009312;D10S275;D11S3114;D1S3715;KIF14__6511;RH17402;RH26491;RH93685;SHGC-142061;SHGC-35462 KIAA0042;MGC142302 OTTHUMP00000033836;kinesin-like protein KIF14 APPROVED protein-coding ENSG00000118193 19181 06605 611279 VALIDATED 1317245 KIF13A kinesin family member 13A This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 6 6 p23 17868564 18095778 - 17759414 17987854 - 1580863;6480464 19841135;20360746;20798811;8889548;17474147;19328558;18391951;16964243;15231748;14574404;12477932;11861365;11374900;11106728;10777215;8889549;8125298;19094064;19841138;20208530;20379614;22863883;21873978;22219177 63971 E9PDX3;H0Y307;H0Y925;H0Y9Z7;Q9H1H8 AA037612;ABBA01022227;ABBA01022228;ABBA01022229;AI080622;AJ291578;AJ291579;AK025303;AK225214;AL023807;AL138724;AMYH01016120;AW296537;AY014403;AY014404;BC001730;BC023613;BC062673;BC127115;BC127116;BG481524;BQ184768;CA308223;CH471087;NG_029766;NM_001105566;NM_001105567;NM_001105568;NM_001243423;NM_022113 AAG38890;AAG38891;AAI27116;AAI27117;BAB15107;CAC20442;CAC20443;EAW55387;EAW55388;EAW55389;EAW55390;EAW55391;NP_001099036;NP_001099037;NP_001099038;NP_001230352;NP_071396;Q9H1H9 Hs.94499 1649773;1661144;1669976;1709080;1715513;1716591;1718495;1722045;1775991;2138050;2150686;2151249;2180637;2185077;2185552;2190387;2190401;5101863 D6S2150;D6S2194;G59909;HSC232_(EPM2B-1);HSC239_(TCAG-20);IB623;RH120979;RH121641;RH122450;RH12679;RH142898;RH16245;RH66449;RH66699;SHGC-58230;SHGC-85690;STS-N32528;WIAF-1541 FLJ27232;RBKIN;bA500C11.2 OTTHUMP00000016071;OTTHUMP00000016072;OTTHUMP00000221508;OTTHUMP00000221519;homolog of mouse KIF13A mannose-6-phosphate receptor transporter;kinesin-like protein KIF13A;kinesin-like protein RBKIN APPROVED protein-coding ENSG00000137177 14566 09256 605433 REVIEWED 1346274 KIF11 kinesin family member 11 This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008] 10 10 q24.1 94342971 94405130 + 94352825 94415152 + 1580863;6480464 8548803;14718566;18669648;18029348;18845538;18806799;18640125;18512732;18503753;18212765;18037705;17999913;17971426;17827400;17562024;17293876;17251189;17101792;17062577;17014086;16969080;16642039;16604065;16565220;16434397;16344560;16341674;16115880;15858821;22939629;15665380;15489334;15247293;15164054;15024728;14517947;12477932;11416179;11328809;9701554;9235942;7776974;1505978;14527417;21490949;16385451;17643375;18679583;19545421;19615732;19619321;19793049;19802393;19824700;19862325;19896928;19951065;19996280;20018897;20154092;20508983;20299460;20404347;20558732;21106837;19001501;22993085;21148480;17707232;23184937;21522128;21642957;21782324;22261065;21449971;21795388;16969126;21139048;21906983;22552964;21566458;22353549;22284827;19322201;21151955;22506066;22343406;18003639;23371254;21525035;21963094;22832270;23000965;23368718;23036584;22505724;23398456;23402259;23643362 3832 P52732;Q59GZ5 AA504625;AA857025;AB208964;ABBA01021897;ABBA01021898;ABBA01021899;AK314258;AL356128;AL360222;AMYH01002950;BC050421;BC050667;BC126211;BC136474;BM742618;CH471066;CS174237;CU446438;DB078134;JA417644;L40372;NG_032580;NM_004523;U37426;X85137 AAA86132;AAC41739;AAI26212;AAI36475;BAD92201;BAG36923;CAA59449;CAJ34547;CCD32721;EAW50089;NP_004514;P52732 Hs.8878 1337750;1668257;1759115;1766803;2122049 D10S583;RH68796;SHGC-151124;SHGC-152149;STS-U37426 EG5;HKSP;KNSL1;MCLMR;TRIP5 OTTHUMP00000020099;TR-interacting protein 5;TRIP-5;kinesin-like 1;kinesin-like protein 1;kinesin-like protein KIF11;kinesin-like spindle protein HKSP;kinesin-related motor protein Eg5;thyroid receptor interacting protein 5;thyroid receptor-interacting protein 5 APPROVED protein-coding ENSG00000138160 6388 01023 148760;152950 REVIEWED 1352766 KIF18A kinesin family member 18A KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008] 11 11 p14.1 27998739 28086322 - 28042163 28129746 - 737633;1580863;6480464 12477932 18267093;17346968;16565220;16381901;16344560;15878648;15489336;15489334;15231748;14702039;11230166;11076863;11256614;17006958;18680169;19625775;20153196;20595236;21231887;18029348;21213216;21884977;21139048;22104080;21885282;22595673;22623531;23288039 81930 Q4G194;Q8NI77 AB062483;ABBA01060959;ABBA01060960;ABBA01060961;AC023206;AC090159;AK093850;AK312576;AL136819;AMYH01003457;AW770226;AY791349;BC026090;BC035917;BC048347;CH471064;DB080843;NM_031217 AAH26090;AAH48347;AAX16185;BAB93508;BAG35470;CAB66753;CAL37983;EAW68271;NP_112494;Q8NI77 Hs.301052 1727981;1761181;1771724 G02275;G63410;SHGC-145194 DKFZp434G2226;MS-KIF18A OTTHUMP00000232145;kinesin-like protein KIF18A APPROVED protein-coding ENSG00000121621 29441 11177 611271 VALIDATED 1351410 KIF15 kinesin family member 15 3 3 3 p21.31 44741197 44832714 + 44778289 44869749 + 44803209 44894748 + 1580863;6480464 10878014;16169070;14702039;12747765;12477932;19818618;19818619;22863883;21139048;22024925 56992 C9JKA9;D6RCT7;F8WC33;H7BZT2;H7C1K7;Q9NS87 AB035898;ABBA01024735;ABBA01024736;ABBA01024737;AC098649;AF308294;AK027816;AK098533;AK307674;AL832908;AMYH01013123;AMYH01013124;BC117174;BC143752;CH471055;DR005852;NM_020242 AAG48261;AAI17175;BAB03309;BAB55389;CAH10635;EAW64724;NP_064627;Q9NS87 Hs.658939 1656208;1753601;2139797 G29224;SHGC-107507;SHGC-76903 FLJ25667;HKLP2;KNSL7;NY-BR-62 OTTHUMP00000209709;OTTHUMP00000209753;kinesin-like 7;kinesin-like protein 2;kinesin-like protein 7;kinesin-like protein KIF15;serologically defined breast cancer antigen NY-BR-62 protein-coding ENSG00000163808 17273 10037 VALIDATED 2292085 KIF18B kinesin family member 18B 17 17 17 q21.31 39713954 39735621 - 40358974 40380608 - 43002079 43025079 - 6480464 16084724;12477932;20600703;21737685;21820309;21252943;18029348;21906983 146909 H9KV46;Q6NWY8;Q86Y91 ABBA01028341;AC015936;AMYH01008432;BC044933;BC048263;BC067365;BC136590;BC144271;BX405609;GU808359;NM_001264573;NM_001265577 AAH44933;AAH67365;AAI36591;AAI44272;ADE43428;NP_001251503;NP_001252506;Q86Y91 Hs.135094 1338337;1699196;5014051;5016478;5020948;5022200;5022578;5037552 D17S1804;D1S1423;D8S2278;D8S2279;G35510;GDB:434012;L18426;RH103178 kinesin-like protein KIF18B protein-coding ENSG00000186185 27102 614570 VALIDATED 1320877 KIF16B kinesin family member 16B The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 20 20 20 p11.23 16327872 16629179 - 16200749 16502078 - 16252749 16554079 - 6480464 17203973;16782399;16084724;15882625;15489334;14702039;12477932;12461558;11780052;10997877;22558309;21139019;17641687;22357949;19471022;22449649;23006423 55614 H0Y534;J3QSY7;Q8IYU0 AB046810;ABBA01054009;ABBA01054010;ABBA01054011;ABBA01054012;ABBA01054013;ABBA01054014;ABBA01054015;AK000142;AK026698;AK095322;AK307399;AL049794;AL117376;AL118509;AMYH01011735;AY044654;AY166853;BC015384;BC034984;BC050577;BC110317;BC150261;BQ067573;BX647572;BX648426;CH471133;NG_028043;NM_001199865;NM_001199866;NM_024704 AAH34984;AAI10318;AAI50262;AAK98768;AAO17292;BAA90971;BAB13416;BAB15530;CAI46105;CAI46266;EAX10287;EAX10288;EAX10289;EAX10290;NP_001186794;NP_001186795;NP_078980;Q96L93 Hs.101774 1853628;1856675;2122895;2127303;2152769;2178207;2180164;2187527 G18087;RH78581;WIAF-1621;Z94444;Z94492;Z94570;Z94615;Z94715 C20orf23;KISC20ORF;SNX23 OTTHUMP00000030319;OTTHUMP00000030321;chromosome 20 open reading frame 23;kinesin motor protein;kinesin-like protein KIF16B;sorting nexin 23;sorting nexin-23 APPROVED protein-coding ENSG00000089177 15869 10731 REVIEWED 1344438 KIF17 kinesin family member 17 1 1 1 p36.12 19316276 19370087 - 20863096 20917097 - 20990507 21044317 - 1580863;6480464 12477932;20530208;16713569;16710414;15489334;14673085;12514209;12493914;19679349;20378615;20379614;10846156;10718198;9427749;20696710;20646681 57576 Q9P2E2 AB037826;AB290162;ABBA01059790;ABBA01059791;ABBA01059792;ABBA01059793;ABBA01059794;AF009624;AL391357;AL663074;AMYH01000322;AMYH01000323;AY484427;BC036871;BC040639;BC065927;BX387401;CH471134;NM_001122819;NM_020816 AAD01428;AAH36871;AAH65927;AAR33039;BAA92643;BAG06716;EAW94941;EAW94942;EAW94943;EAW94944;EAW94945;EAW94946;NP_001116291;NP_065867;Q9P2E2 Hs.130411 1764657;2033334;2120324 REN87674;SHGC-148244;SHGC-74334 KIAA1405;KIF17B;KIF3X;KLP-2;OSM-3 KIF17 variant protein;KIF3-related motor protein;OTTHUMP00000002887;OTTHUMP00000179076;OTTHUMP00000179077;kinesin-like protein KIF17 protein-coding ENSG00000117245 19167 10388 605037 VALIDATED 1603919 KIF19 kinesin family member 19 17 17 17 q25.1 68915068 68944681 + 69833946 69863554 + 72322351 72351959 + 6480464 16625196;16344560;15489334;14702039;12477932;11416179;20379614 124602 F8VW50;Q2TAC6 AA527573;ABBA01028841;AC103809;AK094619;AMYH01008623;AW014742;AW339468;BC026362;BC067749;BC093631;BC104852;BC110989;BC143327;BE219924;CH471099;DA955730;NM_153209 AAH93631;AAI04853;AAI10990;AAI43328;BAC04386;EAW89150;EAW89151;EAW89152;EAW89153;NP_694941;Q2TAC6 Hs.372773 5015810 GDB:182516 FLJ37300;KIF19A OTTHUMP00000198270;OTTHUMP00000241745;kinesin-like protein KIF19 protein-coding ENSG00000196169 26735 08782 VALIDATED 1343896 KIF21B kinesin family member 21B This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 1 q32.1 174062559 174116875 - 199205143 199259451 - 200938514 200992828 - 737633;1580863;6480464 12477932 16710414;9455484;20007504;21102463;21833088;20587413;19915572;16196087;17273744;21900206;21743469;22190034;23128233;23453885 23046 H0YED0;O75037;Q2UVF0 AB007918;ABBA01027538;ABBA01027539;AC099756;AK131318;AL137395;AL358473;AM177180;AMYH01001638;AMYH01001639;BC031927;BC052964;BC078676;BC137281;BC144557;CH471067;DR002414;FB659860;NM_001252100;NM_001252102;NM_001252103;NM_017596;R42155 AAI37282;AAI44558;BAA32294;CAB70723;CAJ45484;CAS01784;EAW91328;EAW91331;NP_001239029;NP_001239031;NP_001239032;NP_060066;O75037 Hs.169182 1700982;1730189;1756405;1766625;2117297;2139869;2144704;2162151;2162153;5019567;7186327 A002C38;AU047957;D1S291E;G19938;RH104118;RH69911;SHGC-143378;SHGC-149924;STS-R36855;WI-19649 FLJ16314 OTTHUMP00000033935;OTTHUMP00000228887;OTTHUMP00000228888;OTTHUMP00000228889;kinesin-like protein KIF21B APPROVED protein-coding ENSG00000116852 29442 608322 REVIEWED 1312759 KIF1A kinesin family member 1A The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] 2 2 q37.3 241301857 241408297 - 241653181 241759725 - 6480464;7240710 7539720;18029348;16946706;15815621;15489334;15014437;14702039;12522103;12477932;12435738;11701947;10737800;10323250;9110174;8889548;8661001;8619474;7937745;1846075;1538749;15722511;20162572;15604093;22863567;21820098;21487076;21697133;22586326;23404705;21139048;21890473;21824248;16434418;22258533;21089229;20467438;22053931;22505724 547 C9JBH1;F8W8V9;G1UI30;H7C0K6;H7C3Y8;H7C437;Q53T78 AB209138;AB210029;AB290172;AB621817;ABBA01048881;ABBA01048882;ABBA01048883;AC011298;AC112784;AF004425;AF038173;AF052089;AI815863;AI878864;AK054791;AK130880;AK307119;AL706949;AMYH01011626;AW246876;BC009491;BC021199;BC064906;BC111780;BC111799;BF879579;BF946744;BQ924476;BU732893;BX537556;CH471063;L79946;NG_029724;NM_001244008;NM_004321;U37194 AAA80352;AAB04640;AAB97363;AAD02917;AAH64906;AAI11781;AAI11800;AAX93238;AAX93239;BAD92375;BAE06111;BAG06726;BAK64153;CAH56161;EAW71214;EAW71215;EAW71216;EAW71217;NP_001230937;NP_004312;Q12756 Hs.516802 1341363;1643718;1711406;1712160;1781334;1781336;1781338;2108187;2139002;5021928;7184934 A002D44;D2S140;G31188;G31189;G31190;G42187;G54130;KIF1A_8222;RH47481;ha3288 ATSV;C2orf20;DKFZp686I2094;FLJ30229;HSN2C;HUNC-104;MGC133285;MGC133286;MRD9;SPG30;UNC104 OTTHUMP00000200839;OTTHUMP00000201341;axonal transport of synaptic vesicles;axonal transporter of synaptic vesicles;kinesin, heavy chain, member 1A, homolog of mouse;kinesin-like protein KIF1A;microtubule-based motor KIF1A;spastic paraplegia 30 (autosomal recessive);tmp_locus_27;unc-104- and KIF1A-related protein APPROVED protein-coding ENSG00000130294 888 03156 601255;610357;614213;614255 REVIEWED 731799 KIF1C kinesin family member 1C 17 17 17 p13.2 4916054 4946508 + 4841998 4868720 + 4901243 4931694 + 1580863;6480464 9685376;17081983;16964243;16554367;15489334;12477932;10559254;9734811;19996280;23237952;20360068;21139048;17979178;20360680;21988832;23251661 10749 I3L1B1;O43896 AB014606;ABBA01054788;ABBA01054789;ABBA01054790;AC004771;AC012146;AK307401;AMYH01008044;BC025365;BC034993;BC040307;BM458656;CH471108;NM_006612;U91329 AAC52117;AAH34993;BAA31681;EAW90366;EAW90367;EAW90368;EAW90369;NP_006603;O43896 Hs.435120 1682770;1736953;2109453;5016478;5021872;5022651 D11S2921;D17S1580;GDB:434012;KIF1C_9173;RH98900;sY3084 KIAA0706;LTXS1 OTTHUMP00000125303;kinesin 1c;kinesin-like protein KIF1C protein-coding ENSG00000129250 6317 04342 603060 VALIDATED 1317032 KIF20A kinesin family member 20A 5 5 q31 137542784 137551261 + 137514417 137523404 + 1580863;6480464 9438855;12939256;19303298;17081983;16565220;16381901;15665285;15489336;15489334;15263015;12477932;12469216;11416179;11076863;11071909;11060022;10893188;10806357;10233894;22887948;22854760;20360068;21139048;21890473;21906983;21963094;21988832;23000965;22053931;22797925 10112 B4DL79;D6R9E4;D6RBN1;H0YAC9;O95235 ABBA01068692;AC106752;AC109442;AF070672;AF153329;AK024804;AK025790;AK296879;AMYH01015641;BC012999;CH471062;DC402781;HH961754;JA885917;JA886351;JA886785;JA887219;NM_005733 AAC83230;AAD37806;AAH12999;BAG59441;CAL37661;CBX51350;CCQ77691;CCQ77700;CCQ77709;CCQ77718;EAW62157;EAW62158;NP_005724;O95235 Hs.718626 1669521;1674948;1678153;1775568;2109455 KIF20A_9042;RH48412;RH48651;RH91186;WI-14323 FLJ21151;MKLP2;RAB6KIFL GG10_2;OTTHUMP00000159481;OTTHUMP00000223777;RAB6 interacting, kinesin-like (rabkinesin6);kinesin-like protein KIF20A;mitotic kinesin-like protein 2;rab6-interacting kinesin-like protein;rabkinesin-6 protein-coding ENSG00000112984 9787 09292 605664 VALIDATED 1349790 KIF24 kinesin family member 24 9 p13.3 34299975 34319196 - 14702039;11416179 55265 AK001795;AL353662;XM_929828;XM_939512 BAA91916;CAI15920;XP_934921;XP_944605 Hs.652809 1336128;1857685;2144788;2173554;2173556;2178712 A002D31;A002P11;D11S4351;D7S1519;G19961;RH16034 FLJ10933;bA571F15.4 protein-coding 19916 613747 732615 KIF1B kinesin family member 1B This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008] 1 1 p36.2 10193418 10364242 + 10270764 10441661 + 1580863;6480464;7240710 10341097;16225668;18997785;18726616;18614535;18334619;17418584;17081983;21606458;16637659;16344560;15489334;15342556;15324660;15302935;14702039;14697242;12888911;12629046;12477932;12204119;12097473;11835375;11526494;11389829;10819331;10762626;10198040;9628581;9409358;8854876;7528108;16169070;14578343;20502484;20676096;20877624;19776380;20067515;20190806;20379614;22863883;22945799;23028799;23569248;15840729;21594895;21680216;22363396;20301462;20301684;20301782;21424745;19322201;20682791;21139048;21890473;21906983;20301715;17979178;22053931;23000965;16301330;23528589;22505724;22139419 23095 Q9BV80 AA609163;AB011163;AB017133;AB040881;AB088210;AB088211;AB088212;AB088213;ABBA01035594;ABBA01035595;ABBA01035596;ABBA01035597;ABBA01035598;ABBA01035599;ABBA01035600;AF257176;AK022977;AK023184;AK025761;AK025771;AK074279;AK297439;AK308121;AL139424;AL358013;AMYH01000243;AMYH01000244;AMYH01000245;AMYH01000246;AU121683;AV726155;AX039604;AY043362;AY139835;BC001415;BC028114;BC040017;BC047632;BC063684;BC073883;BC094856;BC115395;BF940695;BI601300;BP239973;BT007174;BU626971;CH471130;DA113609;DA485632;DA774937;NG_008069;NM_015074;NM_183416 AAH01415;AAI15396;AAK49332;AAK85155;AAN17742;AAP35838;BAA25517;BAA95972;BAB14341;BAB69038;BAE02543;BAE02544;BAE02545;BAE02546;BAG59865;CAC16629;EAW71641;EAW71642;EAW71643;EAW71644;EAW71645;NP_055889;NP_904325;O60333 Hs.97858 1645319;1645728;1649540;1664519;1676730;1685510;1687167;1690306;1693038;1695314;1711394;1727885;1736164;1751881;1770252;1789208;2109451;2132135;2185143;5017433;5020948;5037552;5092386 AL009478;AL034246;D1S1768E;D1S2021E;D1S2187;D8S2279;G34822;G35510;G42181;G54045;G63359;G65603;KIF1B__6513;RH79628;RH80337;RH94028;RH94196;SHGC-105813;SHGC-2554;SHGC-30747;SHGC-31453;SHGC-63507;STS-T76997 CMT2;CMT2A;CMT2A1;FLJ23699;HMSNII;KIAA0591;KIAA1448;KLP;MGC134844;NBLST1 OTTHUMP00000001772;OTTHUMP00000001773;OTTHUMP00000001774;OTTHUMP00000001775;OTTHUMP00000001776;kinesin superfamily protein KIF1B;kinesin-like protein KIF1B APPROVED protein-coding ENSG00000054523 16636 05818 118210;171300;256700;605995 REVIEWED 1318298 KIF20B kinesin family member 20B 10 10 10 q23.31 85208188 85281517 + 91451347 91524680 + 91461367 91534700 + 1580863;6480464 11470801;15489334;15164054;14702039;12740395;12477932;11230166;10695267;8885239;8290587;16385451;16712791;19322201;21139048;21890473;22505724 9585 C9J6W2;Q86X82 AB033337;ABBA01021944;AK024959;AK025628;AK074336;AK290439;AL117496;AL137392;AL157389;AL157400;AMYH01002934;AY282406;AY282407;AY739715;BC005221;BC012585;BC042130;BC046134;BC058913;BC093089;BC108688;CB130618;CH471066;CS403020;FB749902;GM983782;L16782;NM_016195;U93121 AAB88727;AAC37542;AAH46134;AAH58913;AAH93089;AAI08689;AAP40330;AAP40331;AAW65984;BAB15043;BAB15194;BAB69456;BAF83128;CAB55962;CAB70720;CAL40386;CAT02174;CAX21631;EAW50126;EAW50127;EAW50128;NP_057279;Q96Q89 Hs.240 1668459;1674798;2109523;5114131 D10S1571;MPHOSPH1_8962;STS-H93085;STS-L16782 CT90;DKFZp434B0435;DKFZp434P0810;KRMP1;MPHOSPH1;MPP-1;MPP1 M-phase phosphoprotein 1;OTTHUMP00000020073;OTTHUMP00000020075;cancer/testis antigen 90;kinesin-like protein KIF20B;kinesin-related motor interacting with PIN1;mitotic kinesin-like protein protein-coding ENSG00000138182 7212 09268 605498 VALIDATED 1312975 KIF21A kinesin family member 21A This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 12 12 q12 37973297 38123185 - 39687030 39837192 - 1580863;1600402;6480464;7240710 14595441 19165527;19020088;18363169;18332320;18323871;17511870;16365788;16157808;15827546;15671279;15621877;15621876;15489334;15223798;14702039;12702216;12477932;11214970;10508479;10225949;9734811;8075644;21264235;16344560;16939002;19551685;19559006;19852579;19896199;20301522;21042561;21983718;21805025;23000965;22442075;19322201;21628590;22552340;22465342;22863883 55605 F8WCP6;H0YHG9;H0YHT2;H0YI78;H0YIM6;H0YIM7;Q7Z668 AB051495;AB290166;ABBA01049532;ABBA01049533;AC084373;AC090668;AC121334;AF155117;AF450487;AK000059;AK124704;AM177179;AMYH01004388;AMYH01004389;AW131223;AY368076;BC032344;BC041430;BC047572;BC136414;BX537855;CH471111;DA293947;NG_017067;NM_001173463;NM_001173464;NM_001173465;NM_017641 AAD42883;AAH41430;AAH47572;AAI36415;AAP97680;AAR04774;BAA90916;BAB21799;BAG06720;CAD97863;CAJ45483;EAW57802;EAW57803;EAW57804;EAW57805;EAW57806;NP_001166934;NP_001166935;NP_001166936;NP_060111;Q7Z4S6 Hs.374201 1746657;1752245;1782578;2122229;2141203;2149970 D12S874;G64663;L17958;SHGC-106147;SHGC-112391;STS-N39407 CFEOM;CFEOM1;DKFZp779C159;FEOM;FEOM1;FEOM3A;FLJ20052;KIAA1708 OTTHUMP00000240839;OTTHUMP00000240842;OTTHUMP00000240843;OTTHUMP00000240844;kinesin-like protein KIF2;kinesin-like protein KIF21A;renal carcinoma antigen NY-REN-62 APPROVED protein-coding ENSG00000139116 19349 10506 135700;608283 REVIEWED 1345652 KIF25 kinesin family member 25 The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq, Jul 2008] 6 6 6 q27 169136824 169163917 + 168161402 168188618 + 168418553 168445769 + 1580863;6480464 9925916;14574404;12477932;11416179;9925910;23319000 3834 H0YAK6;Q9UIL4 AB012722;AB012723;AB016897;ABBA01000413;ABBA01000414;AK289488;AL589733;AMYH01016867;AMYH01016868;BC130489;CH471051;NM_005355;NM_030615 BAA36417;BAA36418;BAF82177;EAW47474;EAW47475;EAW47476;NP_005346;NP_085118;Q9UIL4 Hs.150013 KNSL3;MGC163361 OTTHUMP00000017650;OTTHUMP00000017651;OTTHUMP00000219077;kinesin-like 3;kinesin-like protein 3;kinesin-like protein KIF25 APPROVED protein-coding ENSG00000125337 6390 04818 603815 REVIEWED 1323577 KIF22 kinesin family member 22 The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 16 16 p11.2 29709559 29724207 + 29802034 29816706 + 1580863;6480464 8599929;18329364;18268099;17726374;16565220;16176979;15489334;12805422;12727876;12692123;12606572;12477932;11564754;11416179;11146551;10966105;10966104;10493829;9790757;9685418;8146198;8125298;16169070;17474147;20144232;19454010;18029348;19321445;19471022;20309963;21139048;21890473;21906983;22152677;22152678;21963094;23222517;23275563;22505724 3835 B7Z9T5;E7EUJ5;H3BQB9;H3BRB3;H3BTH5;I3L306;Q14807 AB017335;AB017430;ABBA01013118;AC002301;AC009133;AK223431;AK294380;AK297893;AK312234;AK316050;AK316389;AMYH01007494;BC004352;BC028155;BT007259;CH471238;DC370294;L29095;L29096;NG_032055;NM_001256269;NM_001256270;NM_007317 AAA59960;AAA59961;AAC08709;AAC08711;AAC08712;AAH04352;AAH28155;AAP35923;ABM81697;ABM84578;ABM84858;ABM86755;BAA33019;BAA33063;BAD97151;BAG35167;BAG60214;BAH11751;BAH14421;BAH14760;EAW80004;EAW80005;EAW80006;EAW80007;EAW80008;EAW80009;EAW80010;NP_001243198;NP_001243199;NP_015556;Q14807 Hs.612151 1729794;1739137;1851614;7184809;7184854 D13S1104;D16S321;D16S383;STS-L29096 A-328A3.2;KID;KNSL4;OBP;OBP-1;OBP-2;SEMDJL2 OTTHUMP00000123406;kinesin-like 4;kinesin-like DNA-binding protein pseudogene;kinesin-like protein 4;kinesin-like protein KIF22;oriP binding protein;origin of plasmid DNA replication-binding protein APPROVED protein-coding ENSG00000079616 6391 04445 603213;603546 REVIEWED 1317452 KIF26A kinesin family member 26A 14 14 14 q32.33 84659257 84701440 + 103674813 103716988 + 104605060 104647235 + 1580863;6480464 12477932;11416179;10574462;19914172;20936779;17620599 26153 C9JFF0;Q9ULI4 AB033062;AB290161;ABBA01048389;ABBA01048390;AK026406;AL117589;AL359399;AMYH01006057;BC009415;BC025353;BE540821;NM_015656 AAH09415;AAH25353;BAA86550;BAB15472;BAG06715;CAB56009;NP_056471;Q9ULI4 Hs.134970 1766535;2219852 KIF26A__6514;SHGC-149849 DKFZp434N178;FLJ22753;KIAA1236 KIF26A variant protein;OTTHUMP00000207046;OTTHUMP00000246559;kinesin-like protein KIF26A protein-coding ENSG00000066735 20226 613231 VALIDATED 1353712 KIF25-AS1 KIF25 antisense RNA 1 6 6 q27 169112016 169116283 - 168393502 168397769 - 10382971;10382971;11181995;12477932;14574404;15489334 100505879;26236 Q9Y6Z4 AB016899;AB016900;ABBA01000415;AL589733;BC112215;BC143766;CH471051;NM_014354;NR_103750;XM_003960371;XR_132743;XR_133441 AAI43767;BAA78634;BAA78635;EAW47477;EAW47478;Q9Y6Z4;XP_003960420 Hs.225962 5493309 UniSTS:485671 C6orf54;HGC6.1.1;MGC138420;NCRNA00300 APPROVED miscrna ENSG00000229921 20953 VALIDATED 1605983 KIF26B kinesin family member 26B 1 1 1 q44 218607159 219157882 + 243384910 243933051 + 245318287 245866428 + 6480464 14702039;12477932;11181995;20379614;20936779;22768111;23212062 55083 B7WPD9;Q2KJY2 ABBA01047168;ABBA01047169;ABBA01047170;ABBA01047171;ABBA01047172;ABBA01047173;ABBA01047174;ABBA01047175;AC093153;AC104462;AK001019;AK125187;AK128806;AK293964;AK297303;AL359983;AL589763;AL592103;AL845334;AMYH01001898;AMYH01001899;AMYH01001900;AY923834;BC035896;BC042481;CH471148;NM_018012 AAH35896;AAH42481;AAY17361;BAA91469;BAC86076;BAC87614;BAG57336;BAG59771;EAW77136;NP_060482;Q2KJY2 Hs.368096 1341065;1660477;1692044;1692056;1692278;1719471;1720719;1728391;1750005;1762721;1767499;1779420;2115040;2143606;2152481;2154621;7186910 A274ZC5;AL009620;AL009638;AL033799;AL034002;AL034011;B358WG1;D1S2535;D1S423;G34828;G59332;G63478;RH123454;SHGC-111705;SHGC-146507;SHGC-153409 FLJ10157;MGC35030 OTTHUMP00000037972;OTTHUMP00000227962;kinesin-like protein KIF26B protein-coding ENSG00000162849 25484 614026 PROVISIONAL 1344489 KIF27 kinesin family member 27 This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012] 9 9 9 q21.32 57021633 57107363 - 85641433 85726162 - 86451613 86536342 - 1580863;6480464 15547729;12783626;12477932;15547730;16015647;21345331;22281744 55582 F2Z355;Q86VH2 ABBA01034008;ABBA01034009;ABBA01034010;AK297689;AL133654;AL354733;AMYH01021461;AY237536;AY237537;AY237538;BC071819;BC140788;CH471089;DC376766;HM370398;NM_001271927;NM_001271928;NM_017576 AAI40789;AAP04413;AAP04414;AAP04415;ADM86750;BAG60047;CAB63770;EAW62667;EAW62668;EAW62669;EAW62670;EAW62671;NP_001258856;NP_001258857;NP_060046;Q86VH2 Hs.697514 1338229;1751319;1752599;2107243;2114040 AB070138;D9S776;KIF27__7467;SHGC-105140;SHGC-106484 DKFZp434D0917;RP11-575L7.3 OTTHUMP00000021559;kinesin-like protein KIF27 protein-coding ENSG00000165115 18632 11179 611253 REVIEWED 1318460 KIF23 kinesin family member 23 The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013] 15 15 q23 67493742 67527818 + 69706627 69740764 + 1580863;6480464 10506747;18511905;1406973;17353931;18329369;15199097;19015243;17198681;17081983;16964243;16790497;16565220;16461284;16344560;15796717;15592455;15489334;15324660;15302935;15297875;15075367;15009096;12477932;11942621;11877456;11782313;11416179;10403813;8524282;15778465;20562859;20451386;15197175;20508983;16103226;16236794;22939629;14676191;15161933;20360068;19531213;22522702;22586326;19471022;21139048;21890473;21906983;21904957;17979178;21963094;23000965;23562843;11827452;15479732;23570799;23650552 9493 B4E1K0;H0YKQ5;H0YME6;H0YMJ4;H7BYN4;Q02241 AA291944;ABBA01038768;AC027237;AI131325;AK303874;AK308322;AK308361;AK310402;AMYH01006742;AU133373;BC017705;BC051826;BG939827;BI093060;BX327654;BX477359;CH471082;DB445953;DR000298;NM_001281301;NM_004856;NM_138555;X67155 AAH17705;AAH51826;ABW03421;BAG64812;CAA47628;EAW77841;EAW77842;NP_001268230;NP_004847;NP_612565;Q02241 Hs.270845 1662148;1667365;2136772;2166113 D15S1166;RH68564;RH70137;STS-X67155 CHO1;KNSL5;MKLP-1;MKLP1 kinesin-like 5 (mitotic kinesin-like protein 1);kinesin-like protein 5;kinesin-like protein KIF23;mitotic kinesin-like 1;mitotic kinesin-like protein 1 APPROVED protein-coding ENSG00000137807 6392 05455 605064 REVIEWED 735496 KIF2A kinesin heavy chain member 2A The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 5 5 q12-q13 61637746 61717967 + 61601989 61683011 + 724431;1580863;6480464 9177777 18411309;17538014;17394562;16959419;16565220;16243029;15489334;15302853;14684825;12477932;17332754;19351716;19940135;19996280;20379614;20508983;23022380;21907836;21139048;21906983;22118674;22184201 3796 B0AZS5;D6R9M0;D6RD93;H0Y8H2;O00139 ABBA01048366;ABBA01048367;ABBA01048368;AC016637;AC034242;AI652174;AK297347;AK302270;AK307880;AK315866;AMYH01015117;AY317140;AY429552;BC031828;BC047544;CH471137;DB452624;DB456309;EF560716;EF560728;NM_001098511;NM_001243952;NM_001243953;NM_004520;Y08319 AAH31828;AAP84320;ABM82273;ABM85453;ABQ59026;ABQ59038;ACE87821;ACT64380;BAF98757;BAG59797;BAG63616;CAA69621;EAW51387;EAW51388;EAW51389;EAW51390;NP_001091981;NP_001230881;NP_001230882;NP_004511;O00139 Hs.558351 1650098;1653699;1671245;1697214;1706072;1853569;2108189;5017819;5092940 A009C35;G32425;KIF2A;KIF2_8425;RH102099;RH67870;SHGC-80072;STS-Y08319;WI-20590 HK2;KIF2 Kinesin, heavy chain, 2;OTTHUMP00000123384;OTTHUMP00000197299;OTTHUMP00000197300;OTTHUMP00000221863;kinesin-2;kinesin-like protein KIF2A APPROVED protein-coding 6318 03996 602591 REVIEWED 1351135 KIF2B kinesin family member 2B 17 17 17 q22 48360940 48363277 + 49255238 49257572 + 51900239 51902573 + 12368902;19060894;17538014;15489334;14702039;12893827;12477932;11416179;15303970;23087211;18029348;20950786;20852589;22535524 84643 Q8N4N8 ABBA01041276;AC019315;AF333335;AK057272;AK302262;AMYH01008486;BC033802;CH471109;DB457485;HC007060;HC044625;NM_032559 AAH33802;AAK20830;ADZ15482;BAB71406;BAG63610;CBH19335;CBH30642;EAW94554;NP_115948;Q8N4N8 Hs.226805;Hs.744513 FLJ53902 kinesin protein;kinesin-like protein KIF2B protein-coding ENSG00000141200 29443 10053 615142 VALIDATED 3399986 KIF4CP kinesin family member 4C pseudogene X X X q21.1 78819098 78820583 + 78401095 78467322 + 78578796 78580282 + 10978527 347363 ABBA01030195;AL021786;AMYH01022638;NG_016703 1780436 stbA159L8SP6 KIF4P1 pseudo 13340 INFERRED 1346328 KIF4B kinesin family member 4B 5 5 5 q33.1 150470108 150474533 + 154373453 154377878 + 154393260 154397685 + 6480464 16201836;10978527;10773663;18029348;19471022;10559369;18684836 285643 Q2VIQ3 ABBA01026217;AC008410;AF241316;AK302388;AMYH01015731;DQ120629;NM_001099293 AAI67779;ABB92415;BAG63704;NP_001092763;Q2VIQ3 Hs.567824 OTTHUMP00000226013;chromokinesin-B;chromosome-associated kinesin KIF4B protein-coding ENSG00000226650 6322 609184 PROVISIONAL 1315643 KIF3B kinesin family member 3B The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008] 20 20 q11.21 30329128 30386475 + 30865454 30922814 + 1580863;6480464 7559760;9865700;19339549;18957512;17008358;16298999;15231748;12832475;12821668;11912492;11780052;10548469;10395937;9506951;9427749;9205841;16751776;17825299;19664597;16344560;12477932;19940036;19635168;21832049;21871436;21139048;22145905 9371 B4DSR5;O15066 AB002357;ABBA01019278;ABBA01019279;AK098431;AK299877;AL121897;AL353976;AL354800;AMYH01011839;AMYH01011840;BC136310;BC136311;BQ431652;BU621710;CH471077;DA805755;DQ579680;NM_004798 AAI36311;AAI36312;BAA20815;BAG61727;EAW76381;EAW76382;NP_004789;O15066 Hs.369670 1651392;1707112;1728571;2115537;2119766;2142177;2152743;5121714 A002Q37;A002U20;D20S555E;D20S582E;G63577;IB1791;RH12366;SHGC-81319 FLA8;HH0048;KIAA0359;KLP-11 OTTHUMP00000030588;kinesin-like protein KIF3B;microtubule plus end-directed kinesin motor 3B APPROVED protein-coding ENSG00000101350 6320 04781 603754 REVIEWED 734428 KIF2C kinesin family member 2C The protein encoded by this gene is a member of kinesin-like protein family. Proteins of this family are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein is important for anaphase chromosome segregation and may be required to coordinate the onset of sister centromere separation. [provided by RefSeq, Jul 2008] 1 1 p34.1 44978138 45006003 + 45205490 45233439 + 1580863;6480464 9434124;11092768;14718566;19060894;19001124;18843200;18809577;18663358;18506187;18440323;17968321;17944972;17653072;17538014;17081983;16672973;16344560;16243029;15883193;15635413;15489334;15304328;15302853;12477932;12383881;11466324;11416179;10600236;9700166;16751065;17986458;21426902;20406800;20889715;11256614;14960279;18029348;18434591;19543227;19632184;19931454;19937794;20368358;20508983;21832049;23098759;21078677;21165574;22990118;23055517;23281010;20596523;21471284;21602793;21252943;21820309;21900206;21139048;21566458;21693764;21890473;21906983;22363599;22492725;22403406;17620599 11004 B7Z6Q6;B7Z7M6;H0Y5Z9;Q5JR89;Q5JR91;Q99661 AB264115;ABBA01050910;ABBA01050911;ABBA01050912;ABBA01050913;AK290688;AK300756;AK302267;AK312606;AL046197;AL592166;AMYH01000567;AU130795;AY026505;BC008764;BC014924;BC032038;BT006759;BU615368;CH471059;CR450302;NM_006845;U63743 AAC27660;AAH08764;AAH14924;AAH32038;AAK20168;AAP35405;ABM84726;ABW03629;BAF83377;BAG50306;BAH13342;BAH13662;CAG29298;EAX07025;NP_006836;Q99661 Hs.720061 1646871;1719497;1732948;2109457;2154789 D1S1340;KIF2C_9208;RH123469;SHGC-74693;STS-U63743 KNSL6;MCAK OTTHUMP00000010066;OTTHUMP00000010067;kinesin-like 6;kinesin-like protein 6;kinesin-like protein KIF2C;kinesin-related protein 2;mitotic centromere-associated kinesin APPROVED protein-coding ENSG00000142945 6393 05172 604538 VALIDATED 731540 KIF3C kinesin family member 3C 2 2 2 p23 25989739 26045730 - 26002959 26058947 - 26149455 26205443 - 1580863;6480464 9480755;17881655;16344560;15489334;12477932;9487132;9450952;9446808;17549794;17043677;21890473 3797 A2RU78;F8WAR6;F8WER6;O14782 ABBA01045164;ABBA01045165;ABBA01045166;ABBA01045167;ABBA01045168;ABBA01045169;AC013449;AC064847;AF018164;AF035621;AJ002223;AJ002224;AJ002225;AJ002226;AJ002227;AJ002228;AJ002229;AK293738;AK315324;AMYH01010186;BC018932;BC042486;BC092406;BC130423;BC132783;BC144223;BQ432434;BX571741;CH471053;DB303776;NM_002254 AAC05302;AAC39562;AAH42486;AAH92406;AAI30424;AAI32784;AAI44224;AAX88877;AAY24261;BAG57162;CAA05252;CAA05253;CAA05254;CAA05255;CAA05256;CAA05257;CAA05258;CAE11867;EAX00712;EAX00713;EAX00714;NP_002245;O14782 Hs.21611 1732605;2108191;2128651;2151418;2156870;2181432 D2S1253;HSC2CB052;KIF3C_8426;RH12717;RH66315;UniSTS:67245 KIF3C variant protein;OTTHUMP00000120026;OTTHUMP00000201377;kinesin-like protein KIF3C protein-coding ENSG00000084731 6321 04164 602845 VALIDATED 1352051 KIF3A kinesin family member 3A 5 5 q31 132056222 132101164 - 132028323 132073265 - 1580863;6480464;6484113 17043677;1447303;19282970;19043453;18957512;17418584;16298999;16262723;15489334;15372022;12477932;12235292;11912492;10631107;10548469;9506951;9450952;9427749;8889548;7559760;1054846;14690447;17825299;20066075;16043481;19615732;20485362;20936779;20922562;21832049;22990118;23022380;21912604;17620599;19654215;21139048;22197932;23042114;17110338;23386061;19934039;20133826;21841072 11127 C9J9X2;E9PES4;H7C2F6;J3KPF9;Q05CT3;Q9Y496 AB209780;ABBA01068802;AC004039;AC004237;AF041853;AK295089;AK313359;AM177178;AMYH01015616;BC020890;BC032599;BC039592;BC045542;BI561509;BM978559;BX114214;BX953147;CH471062;NM_007054 AAC04475;AAC72294;AAH20890;AAH32599;AAH39592;AAH45542;BAD93017;BAG58130;CAJ45482;EAW62319;EAW62320;EAW62321;NP_008985;Q9Y496 Hs.43670 1657924;1800900;1801624;1802946;1805924;1808496;1809010;1811210;1811784;1812230;1812426;1813590;1815222;1819834;1819972;1820040;1820530;1823640;1824386;1825114;1826146;1826666;1828220;1828956;1830888;1831598;1833800;1833854;1834334;1836128;1837394;1839294;1839404;1842098;1842630;1842852;1846146;2000774;2000776;2000778;2000780;2000782;2000784;2000786;2000788;2000790;2000792;2000794;2000796;2000798;2000800;2000802;2000804;2000806;2000808;2000810;2000812;2000814;2000816;2000818;2000820;2000822;2000824;2000826;2000828;2000830;2000832;2000834;2000836;2000838;2000840;2000842;2000844;2000846;2000848;2000850;2000852;2000854;2000856;2000858;2000860;2000862;2000864;2000866;2000868;2000870;2000872;2000874;2000876;2000878;2000880;2000882;2000884;2000886;2000888;2000890;2000892;2000894;2000896;2000898;2000900;2000902;2000904;2000906;2000908;2000910;2000912;2000914;2000916;2000918;2000920;2000922;2000924;2000926;2000928;2000930;2000932;2000934;2000936;2000938;2000940;2000942;2000944;2000946;2000948;2000950;2000952;2000954;2000956;2000958;2000960;2000962;2000964;2000966;2000968;2000970;2000972;2000974;2000976;2000978;2000980;2000982;2000984;2000986;2000988;2000990;2000992;2000994;2000996;2000998;2001000;2001002;2001004;2001006;2001008;2001010;2001012;2001014;2001016;2001018;2001020;2001022;2001024;2001026;2001028;2001030;2001032;2001034;2001036;2001038;2001040;2001042;2001044;2001046;2001048;2001050;2001052;2001054;2001056;2001058;2001060;2001062;2001064;2001066;2001068;2001070;2001072;2001074;2001076;2001078;2001080;2001082;2001084;2001086;2001088;2001090;2001092;2001094;2001096;2001098;2001100;2001102;2001104;2001106;2001108;2001110;2001112;2001114;2001116;2001118;2001120;2001122;2001124;2001126;2001128;2001130;2001132;2001134;2001136;2001138;2001140;2001142;2001144;2001146;2001148;2001150;2001152;2001154;2001156;2001158;2001160;2001162;2096358;2096360;2096362;2096364;2096366;2096368;2096370;2096372;2096374;2096376;2096378;2096380;2096382;2096384;2096386;2096388;2096390;2096392;2096394;2096396;2096398;2096400;2096402;2096404;2096406;2096408;2096410;2096412;2096414;2096416;2096418;2114767;2151921;2151923;2183804;2191137;5015869;5015961;5016596;5094947;5115838;5120437 A005Z19;D15S1477;D5S2320;ECD01315;ECD01690;ECD02363;ECD03915;ECD05230;ECD05488;ECD06603;ECD06896;ECD07122;ECD07220;ECD07818;ECD08646;ECD10987;ECD11057;ECD11092;ECD11340;ECD12912;ECD13291;ECD13658;ECD14183;ECD14447;ECD15235;ECD15605;ECD16580;ECD16936;ECD18045;ECD18073;ECD18315;ECD19225;ECD19864;ECD20827;ECD20884;ECD22252;ECD22522;ECD22633;ECD24293;G20622;GDB:313261;GDB:315881;GDB:631802;KIF3A;MARC_15279-15280:1013611965:1;REN71299;REN71300;REN71301;REN71302;REN71303;REN71304;REN71305;REN71306;REN71307;REN71308;REN71309;REN71310;REN71311;REN71312;REN71313;REN71314;REN71315;REN71316;REN71317;REN71318;REN71319;REN71320;REN71321;REN71322;REN71323;REN71324;REN71325;REN71326;REN71327;REN71328;REN71329;REN71330;REN71331;REN71332;REN71333;REN71334;REN71335;REN71336;REN71337;REN71338;REN71339;REN71340;REN71341;REN71342;REN71343;REN71344;REN71345;REN71346;REN71347;REN71348;REN71349;REN71350;REN71351;REN71352;REN71353;REN71354;REN71355;REN71356;REN71357;REN71358;REN71359;REN71360;REN71361;REN71362;REN71363;REN71364;REN71365;REN71366;REN71367;REN71368;REN71369;REN71370;REN71371;REN71372;REN71373;REN71374;REN71375;REN71376;REN71377;REN71378;REN71379;REN71380;REN71381;REN71382;REN71383;REN71384;REN71385;REN71386;REN71387;REN71388;REN71389;REN71390;REN71391;REN71392;REN71393;REN71394;REN71395;REN71396;REN71397;REN71398;REN71399;REN71400;REN71401;REN71402;REN71403;REN71404;REN71405;REN71406;REN71407;REN71408;REN71409;REN71410;REN71411;REN71412;REN71413;REN71414;REN71415;REN71416;REN71417;REN71418;REN71419;REN71420;REN71421;REN71422;REN71423;REN71424;REN71425;REN71426;REN71427;REN71428;REN71429;REN71430;REN71431;REN71432;REN71433;REN71434;REN71435;REN71436;REN71437;REN71438;REN71439;REN71440;REN71441;REN71442;REN71443;REN71444;REN71445;REN71446;REN71447;REN71448;REN71449;REN71450;REN71451;REN71452;REN71453;REN71454;REN71455;REN71456;REN71457;REN71458;REN71459;REN71460;REN71461;REN71462;REN71463;REN71464;REN71465;REN71466;REN71467;REN71468;REN71469;REN71470;REN71471;REN71472;REN71473;REN71474;REN71475;REN71476;REN71477;REN71478;REN71479;REN71480;REN71481;REN71482;REN71483;REN71484;REN71485;REN71486;REN71487;REN71488;REN71489;REN71490;REN71491;REN71492;REN71493;STS-N25602;WI-13402;ksks161;stSG601456;stSG601457;stSG601458;stSG601459;stSG601460;stSG601461;stSG601462;stSG601463;stSG601465;stSG601466;stSG601467;stSG601468;stSG601469;stSG601470;stSG601471;stSG601472;stSG601473;stSG601474;stSG601475;stSG601476;stSG601477;stSG601478;stSG601479;stSG601480;stSG601481;stSG601482;stSG601483;stSG601484;stSG601485;stSG601486;stSG601488 FLA10;KLP-20 OTTHUMP00000066051;OTTHUMP00000066070;OTTHUMP00000198265;kinesin family protein 3A;kinesin-like protein KIF3A;microtubule plus end-directed kinesin motor 3A protein-coding ENSG00000131437 6319 05250 604683 VALIDATED 1342700 KIF4A kinesin family member 4A This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010] X X q13.1 69426620 69557461 + 69509879 69640774 + 1580863;6480464 18684836;7929562;17353931;17081983;16964243;16565220;16344560;15772651;15625105;15489334;15326200;15297875;15031677;14702039;12927788;12809554;12477932;11736643;10978527;10773663;10559369;9168136;15148359;18604178;18502200;15166316;20711700;21832049;21565503;21252943;18029348;19596686;20360068;21139048;21566458;21693764;21890473;19471022;22586326;19802344;21841072 24137 O95239;Q59HG1 AB208797;ABBA01067554;ABBA01067555;ABBA01067556;ABBA01067557;ABBA01067558;ABBA01067559;ABBA01067560;ABBA01067561;ABBA01067562;ABBA01067563;ABBA01067564;ABBA01067565;ABBA01067566;ABBA01067567;ABBA01067568;ABBA01067569;ABBA01067570;ABBA01067571;AF071592;AF179308;AF277375;AJ271784;AK000638;AK022592;AK022717;AK024266;AK313133;AL139398;AL357752;AMYH01022526;AMYH01022527;AMYH01022528;AW592235;BC003664;BC011801;BC038459;BC049218;BC050548;CH471132;DA021880;NG_016799;NM_012310 AAD05492;AAD51855;AAF86334;AAH03664;AAH49218;AAH50548;BAD92034;BAG35952;BAG51282;CAB75427;EAX05341;EAX05342;EAX05343;NP_036442;O95239 Hs.648326 1649813;1791252;2120512;2172160;2179133 A005W08;DXS7021E;DXS7112;DXS8367;MARC_8249-8250:996688455:1 FLJ12530;FLJ12655;FLJ14204;FLJ20631;HSA271784;KIF4;KIF4-G1;KIF4G1 OTTHUMP00000023473;chromokinesin-A;chromosome-associated kinesin KIF4A APPROVED protein-coding ENSG00000090889 13339 06606 300521 REVIEWED 1318370 KIF5C kinesin family member 5C 2 2 2 q23.1 143347002 143497189 + 149502042 149591519 + 149793796 149883273 + 1580863;6480464 9782088;17353931;19135897;19011756;18682247;17887960;16835241;15644324;12477932;9628581;9361024;7514426;9624122;16169070;21145461;20379614;16344560;21139048;21906983;17906294;17110338;22751105;23000965;23453885 3800 C9JWB9;E9PET8;O60282;Q59GB8 AB011103;AB073396;AB209191;ABBA01004740;ABBA01004741;ABBA01027998;ABBA01027999;AC073271;AC105402;AC108512;AC144443;AC144611;AC153810;AC206420;AF010146;AK126689;AL050070;AL117393;AMYH01011160;AMYH01011161;AW162840;BC002721;BC017298;BC025961;BC110287;BC127772;CH471058;DA085551;NM_004522 AAD01436;AAH02721;AAH17298;AAH25961;AAI10288;AAI27773;AAX82030;AAX82035;AAX82036;AAY24013;BAA25457;BAD92428;BAE45725;CAB55895;EAX11544;NP_004513;O60282 Hs.435557;Hs.660699 1644774;1650561;1651408;1656970;1659636;1730257;1767951;1854093;2132306;2137849;2149502 AFMa067ze1;D2S1809;D2S187E;D2S2503;G16419;RH11753;RH78450;SHGC-30990;STS-M62096;UniSTS:71815;WI-15722 FLJ44735;KIAA0531;KINN;MGC111478;NKHC;NKHC-2;NKHC2 Kinesin, heavy chain, neuron-specific;OTTHUMP00000204397;OTTHUMP00000204430;kinesin heavy chain isoform 5C;kinesin heavy chain neuron-specific 2 protein-coding ENSG00000168280 6325 604593 PROVISIONAL 1347916 KIF5A kinesin family member 5A This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008] 12 12 q13.13 56230114 56264821 + 57943847 57978554 + 1580863;6480464;7240710 12477932;12355402;11986669;10964943;10491391;10441583;9858832;9624122;8889548;11278422;15256501;14600269;7514426;18029348;19110536;18853458;18640125;18500496;18245137;18203753;17420921;16489470;16169070;15452312;19913121;20628086;18794853;19644859;19674979;20049410;20219786;20439292;20444755;20498205;20508602;20936779;21044781;21231887;23217743;22939629;21107874;23000965;15303970;17043677;21900206;21906983;22788249;21623771 3798 J3KNA1;Q12840 AB210045;AB290174;ABBA01026695;ABBA01026696;ABBA01026697;ABBA01026698;AC022506;AF063608;AK294881;AK315202;AL118561;AL707807;AMYH01004522;BC033961;BC035285;BC051752;BC140009;BC146670;BC150208;BM930000;CH471054;NG_008155;NM_004984;U06698 AAA20231;AAG43166;AAI40010;AAI46671;AAI50209;BAE06127;BAG06728;BAG37640;BAH11913;EAW97030;NP_004975;Q12840 Hs.151219 1699802;2107245;2131223;2140189;2151880;2172943;2180609 25471;D12S1889;D12S2159;KIF5A__6516;RH103508;SHGC-7473;SHGC-7474 D12S1889;MY050;NKHC;SPG10 KIF5A variant protein;OTTHUMP00000243047;OTTHUMP00000243048;kinesin heavy chain isoform 5A;kinesin heavy chain neuron-specific 1;kinesin, heavy chain, neuron-specific;neuronal kinesin heavy chain APPROVED protein-coding ENSG00000155980 6323 09108 602821;604187 REVIEWED 1343265 KIF7 kinesin family member 7 This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011] 15 15 15 q26.1 66573786 66601377 - 87972211 87992578 - 90171201 90198682 - 6480464;7240710 15547730;15547729;12975309;12477932;11416179;19615732;19592253;21552264;23125460;21633164;21139048;21890473;20301500;22281744;22587682;23142271;22505724 374654 F8WD21;Q2M1P5 ABBA01053018;ABBA01053019;AC013787;AMYH01006915;AMYH01006916;AW451733;AY358384;BC040878;BC042063;BC104044;BC112271;BC112273;BC143461;CH471101;NG_030338;NM_198525 AAH40878;AAI04045;AAI12272;AAI12274;AAI43462;AAQ88750;EAX02057;NP_940927;Q2M1P5 Hs.513134 1684140;1691274;1697552;1763145;2112954;2112960 D15S1432E;D15S1435E;RH102284;RH92955;RH99140;SHGC-146876 ACLS;HLS2;JBTS12;MGC120653;MGC138476;MGC138478;UNQ340 EQYK340;OTTHUMP00000211643;kinesin-like protein KIF7 APPROVED protein-coding ENSG00000166813 30497 14187 200990;611254;614120 REVIEWED 7175229 KIF9-AS1 KIF9 antisense RNA 1 3 p21.31 47205860 47285606 + 14702039;16344560 285352 ABBA01024699;ABBA01024700;ABBA01024701;ABBA01024702;AC104447;AC127430;AK096853;AMYH01013140;AMYH01013141;DA755837;NR_033373 Hs.570631 2181242 SHGC-30575 miscrna ENSG00000227398 26822 VALIDATED 1344841 KIF5B kinesin family member 5B 10 10 p11.22 32340077 32385221 - 32297938 32345371 - 1580863;6480464;6484113 17220478;17353931;1607388;19242560;18984674;18817524;18579780;18514191;17925227;17887960;17394562;16498388;16260607;15489334;15459722;15342556;15324660;15184079;15164054;12477932;12475239;12191989;11986669;10964943;10913441;10491391;9657148;9624122;8606779;7514426;11969417;14600269;15778465;15644324;15905402;16157705;16385451;17643375;19164528;19305391;19348763;19615732;19675065;19773350;19913510;20071331;20562859;20936779;22863883;21656749;22939629;17043677;19765186;21900206;21910419;21915095;21925109;22404429;22586326;22172677;21139048;21906983;22198464;22327624;20682791;22514732;17110338;17979178;21963094;23000965;23092984;22505724 3799 P33176;Q6P164 ABBA01033392;ABBA01033393;ABBA01033394;AK289413;AK299542;AK307502;AL161932;AMYH01002223;BC010885;BC065267;BC080604;BC111042;BC126279;BC126281;BP361225;BU633712;CH471072;DC399931;NM_004521;X65873 AAH65267;AAH80604;AAI11043;AAI26280;AAI26282;BAF82102;BAG61489;CAA46703;EAW85976;EAW85977;NP_004512;P33176 Hs.327736 1661537;1675768;1684411;1736034;1772154;2130942;2130944;2148122;2165047;2165049;2166978;5093540 A005U02;A009Q24;D10S1308E;G19439;G20497;G32779;HUM0S12E07;RH11000;RH47155;RH93349;SGC32704;WI-19195 KINH;KNS;KNS1;UKHC OTTHUMP00000019411;conventional kinesin heavy chain;kinesin 1 (110-120kD);kinesin heavy chain;kinesin-1 heavy chain;ubiquitous kinesin heavy chain protein-coding ENSG00000170759 6324 07214 602809 VALIDATED 1346574 KIF6 kinesin family member 6 6 6 p21.2 39410854 39801159 - 39302876 39693181 - 6480464 22542470;19023099;18846501;18510970;18222355;18222354;18222353;18073581;17975119;16189514;15489334;14702039;14574404;12477932;20679960;21458191;20044086;20659029;20854963;20933357;19060904;19752551;20215968;20379614;20403483;20886236;20927332;21871624;21406102;21943003;21810021;23236363;22192511;22216121;22318606;23251661;23001387;22819534 221458 E2QRG3;E7EUN7;F6S0W8;F6VGH2;H0Y718;Q2MDE8;Q5JRK0;Q6ZMV9 ABBA01038311;ABBA01038312;ABBA01038313;ABBA01038314;ABBA01038315;AK123217;AK131471;AL035464;AL136087;AL160161;AL161439;AL590387;AL832634;AMYH01016288;BC022074;BC043552;BC098418;BC117307;BC143444;BC143445;BX649045;NM_145027 AAH22074;AAH98418;AAI17308;AAI43445;AAI43446;BAC85560;BAD18616;CAD89950;NP_659464;Q6ZMV9 Hs.588202 1298229;1718813;1754841;1778296;1785872;1785970;2135145;2141938;2142286;2156855;2157240;2157712;2182068;5022651;5037552 D11S2921;D6S2417;D6S2427;D8S2279;RH123109;RH45052;RH46405;RH68704;SHGC-112435;SHGC-141762;SHGC-149881;SHGC-56752;SHGC-58225;STS-AA011442;STS-H56052 C6orf102;DKFZp451I2418;MGC33317;dJ1043E3.1;dJ137F1.4;dJ188D3.1 OTTHUMP00000016348;OTTHUMP00000164048;kinesin-like protein KIF6 protein-coding ENSG00000164627 21202 10786 613919 VALIDATED 1313687 KIF9 kinesin family member 9 3 3 3 p21.31 47207813 47262937 - 47244889 47299092 - 47269516 47324337 - 1580863;6480464 15489334;14702039;12477932;11483511;21119006;22964304 64147 A8K932;B4DZK5;C9JWZ7;E7EUW8;F8WA61;Q6PJI1;Q9HAQ2 ABBA01024699;ABBA01024700;AC104447;AF311212;AI741745;AK023894;AK292547;AK302070;AK302974;AK314418;AMYH01013141;BC015311;BC030657;BC104479;CH471055;NM_001134878;NM_022342;NM_182902 AAG33849;AAH15311;AAH30657;AAI04480;ABM83394;ABM86607;BAB14713;BAF85236;BAG63460;BAG64117;EAW64813;EAW64814;EAW64815;EAW64816;EAW64817;NP_001128350;NP_071737;NP_878905;Q9HAQ2 Hs.373947 1679383;2106531;2181242 KIF9__6517;RH98504;SHGC-30575 MGC104186 OTTHUMP00000164778;OTTHUMP00000164779;OTTHUMP00000208728;kinesin protein 9;kinesin-like protein KIF9 protein-coding ENSG00000088727 16666 07444 607910 VALIDATED 1347662 KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] q13.4 1580863;6480464;6907045 19326408;19309280;19279038;19234149;19218127;19181658;19169284;19120281;19032228;19000141;18945962;18945643;18848853;18830515;18778326;18755860;18687225;18681957;18668235;18643961;18572300;18571006;18543232;18498296;18322206;18292496;18269867;18091530;17882223;17868255;17498266;19421224;19392800;17445184;17200871;16929347;16774542;16698433;16698429;16571411;16469873;16403292;16112031;15896204;15879158;15848530;15730517;15699512;15248031;15146426;15140215;14607943;12559621;12473268;12121272;11750651;11169255;10850706;10190900;10097129;9476117;8662091;7749980;17092261;18759923;19959527;22772445;20580654;20600442;20643584;20650299;20652381;20670355;19046302;19450876;19489269;19493232;19522772;19527230;19552960;19630074;19664392;19683555;19761533;19789864;19846535;19850842;19861144;19875891;19877200;19897003;19926642;19934297;19936734;19968064;20056126;20082482;20082621;20082646;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20878400;20935224;21206914;20875478;22836042;19549382;22318606;22022261;22024796;23380384;22960345;21373785;21814282;22807681;22871633 3803 P43627;Q6H2H0;Q8N742 AF285434;AL133414;AY320039;AY366242;CU464060;CU467816;EU791544;EU791545;EU791546;GL949748;GL949753;GQ921916;GQ921919;GU182341;GU182353;GU182355;GU182359;L76669;NG_005994;NM_014219;U24075;XM_003960993 AAB36597;AAC50334;AAG34925;AAI52937;AAR16200;ACI49715;ACI49716;ACI49717;ACX71617;ACX71620;ADJ94533;ADJ94635;ADJ94646;ADJ94677;CAX15032;NP_055034;P43627;XP_003961042 Hs.743949 1682868;2046226;2046228;2104254;2158971;2217520;2219166;5014281;5014380;5016436;5020724;5038382;5096309;5107975;5111062;5113128 ECD11136;ECD11215;G29839;KIR2DL2_3394;KIR2DL3_2529;REN94097;REN94228;REN94229;RH18028;RH76182;RH76307;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075;stSG606279 CD158B1;CD158b;NKAT6;p58.2 CD158 antigen-like family member B1;MHC class I NK cell receptor;NKAT-6;killer cell immunoglobulin-like receptor 2DL2;natural killer-associated transcript 6;p58 NK receptor CL-43;p58 natural killer cell receptor clone CL-43 APPROVED protein-coding 6330 16080 604937 REVIEWED 1315717 KIN KIN, antigenic determinant of recA protein homolog (mouse) The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 10 10 p15-p14 7837373 7869950 - 7792925 7829990 - 1580863;6480464 15635413;12853634;12751957;1923796;17045609;12359749;12754299;18029424;16511313;15831485;12525703;12477932;11880372;10964102;10779351;10504327;9266022;16385451;20360068;16636754;21980430;21139048;23349634 22944 B4DX32;F5GXB3;O60870 AA768850;ABBA01034735;ABBA01034736;AJ005273;AK296637;AK301789;AK309059;AL158044;AMYH01002013;BC017309;BC037913;BX504040;CH471072;NM_012311;NR_045609 AAH17309;BAG63244;BAH12407;CAA06462;EAW86374;NP_036443;O60870 Hs.397918 1723365;1731060;1853796;2108801;2164736;5014039;5020885;5021396;5022383;5093568;5109281;5109663 A009S02;D10S277;D1S1425;D22S1584;D7S2067E;ECD04345;G32796;GDB:313783;KIN_9291;L17791;RH118500;WI-17908 BTCD;KIN17 DNA/RNA-binding protein KIN17;OTTHUMP00000019061;antigenic determinant of recA protein homolog;binding to curved DNA APPROVED protein-coding 6327 03425 601720 REVIEWED 1351802 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 q13.4 59973077 59987590 + 55281265 55295778 + 1580863;6480464;6907045 17207965;7749980;19421224;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19032228;19000141;18945962;18848853;18830515;18778326;18755860;18718052;18687225;18681957;18668235;18643963;18643961;18632158;18574028;18571006;18543232;18340360;18269867;18186800;17990989;17868255;17522341;17498266;17497034;17493149;17490516;16774543;16709835;16571411;16508981;16403292;16141329;16112031;15896204;15879158;15730517;15310528;15209394;14607943;12847262;12794140;12559621;12477932;12454284;12393468;12351398;12121272;11904677;11323700;11169255;11163076;11009104;10820396;10429675;10424431;9799338;9768753;9686591;9430221;9430220;9378975;9288975;7716543;20580654;20600442;20643584;20650299;20652381;20670355;18604210;19450876;19489269;19493232;19527230;19630074;19664392;19683555;19711124;19761533;19828694;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20056126;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20210923;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20878400;20935224;21070852;21179506;19549382;21933704;23128233 3802 P43626;Q6H2H2;Q6H2H3;Q6IST4 ABBA01068150;AC011501;AF022045;AF133901;AF135560;AF285431;AF285432;AL133414;AMYH01009976;AY320039;AY366237;AY366238;AY366239;AY366240;AY366241;AY388471;AY789055;AY789056;BC069344;CU041340;CU041368;CU459006;CU459007;CU466259;CU467018;CU633846;DQ371555;DQ371556;DQ371557;DQ371558;DQ371559;DQ371560;DQ371561;DQ371562;DQ466577;GU182340;GU182342;GU182344;GU182348;GU182350;GU182352;GU182354;GU182356;GU182358;GU182360;L41267;NG_005990;NG_005994;NM_014218;U24076;U24078;U96189 AAA69868;AAB54119;AAB95318;AAC50335;AAC50337;AAD24474;AAD48768;AAG34922;AAG34923;AAH69344;AAR16195;AAR16196;AAR16197;AAR16198;AAR16199;AAR26324;AAX23100;AAX23101;ABD38575;ABF13296;ADJ94526;ADJ94540;ADJ94556;ADJ94592;ADJ94605;ADJ94623;ADJ94638;ADJ94653;ADJ94671;ADJ94687;ADQ31987;NP_055033;P43626 Hs.654605;Hs.690615 1682868;1799396;1799806;1811226;1816700;1819722;1834346;2045990;2046000;2046016;2046018;2046034;2046044;2046084;2046130;2046140;2046142;2046144;2046146;2046148;2046150;2046152;2046154;2046156;2046158;2046162;2046164;2046166;2046168;2046170;2046172;2046174;2046176;2046178;2046180;2046182;2046184;2046186;2046188;2046190;2046192;2046194;2046196;2046198;2046200;2046202;2046204;2046206;2046208;2046210;2046212;2046214;2046216;2046218;2046220;2046222;2046224;2046226;2046228;2046230;2046232;2046252;2046264;2158971;2217520;2219166;5014275;5014380;5016436;5020724;5038184;5038382;5096309;5107975;5111062;5113128 ECD00549;ECD00757;ECD06611;ECD09393;ECD10931;ECD11136;ECD11215;ECD18321;G29839;KIR2DL2_3394;KIR2DL3_2529;REN94062;REN94063;REN94081;REN94086;REN94099;REN94100;REN94109;REN94114;REN94138;REN94166;REN94173;REN94174;REN94175;REN94176;REN94177;REN94178;REN94179;REN94180;REN94181;REN94182;REN94184;REN94185;REN94186;REN94187;REN94188;REN94189;REN94190;REN94191;REN94192;REN94193;REN94194;REN94195;REN94196;REN94197;REN94198;REN94199;REN94201;REN94202;REN94204;REN94205;REN94210;REN94211;REN94212;REN94214;REN94217;REN94218;REN94219;REN94223;REN94224;REN94225;REN94226;REN94227;REN94228;REN94229;REN94230;REN94231;REN94243;REN94251;RH18028;RH76182;RH76307;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075 CD158A;KIR-K64;KIR221;NKAT;NKAT1;p58.1 CD158 antigen-like family member A;MHC class I NK cell receptor;NKAT-1;OTTHUMP00000068618;OTTHUMP00000165880;killer Ig receptor;killer cell immunoglobulin-like receptor 2DL1;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 1;killer inhibitory receptor 2-2-1;natural killer-associated transcript 1;p58 NK cell inhibitory receptor NKR-K6;p58 NK receptor CL-42/47.11;p58 killer cell inhibitory receptor KIR-K64;p58 natural killer cell receptor clones CL-42/47.11;p58.1 MHC class-I-specific NK receptor APPROVED protein-coding ENSG00000125498 6329 12000 604936 REVIEWED 1607012 KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] p13.3 6480464;6907045 19630074;19527230;19493232;19489269;19450876;19421224;19326408;19309280;19279038;19218127;19169284;19120281;19046302;19032228;19000141;18945962;18848853;18830515;18778326;18687225;18668235;18643961;18638658;18571006;18509341;18498296;18461314;18297378;18074414;17868255;17592337;17557377;17498266;17490516;17464504;17371997;17215859;17200871;16774542;16698429;16403292;15896204;15187115;15140215;12185535;12121272;11086080;10820258;22652695;20528243;20580654;20600442;20643584;20650299;20652381;20670355;16722215;19664392;19683555;19761533;19846535;19850842;19861144;19875891;19897003;19926642;19936734;19968064;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20456039;20483367;20492596;20519398;20585770;20878400;17092261;18759923 57292 Q0KH99;Q8N109 AF204903;AF204904;AF217485;AF217487;AL133414;AM084878;AY320039;EF102434;EF473257;EF473258;EF473261;EF473264;EU031916;FJ804068;GU063856;GU182355;NG_005994;NM_020535 AAF72845;AAF74055;AAG37101;AAG40152;AAI60063;ABK97618;ABR88101;ABR88102;ABR88105;ABR88108;ABW04729;ACY78696;ADI95449;ADJ94650;CAJ29894;NP_065396;Q8N109 Hs.740906 1802290;1810030;1819722;2046064;2046070;2046234;2046238;2046408;2046410;2046484;2158971;2217522;5014283;5020724 ECD02029;ECD06007;ECD10931;KIR3DL1_3398;REN94122;REN94126;REN94131;REN94232;REN94236;REN94324;REN94325;REN94362;RH18028;SHGC-35500 CD158F;KIR2DL5;KIR2DL5.1;KIR2DL5.3;KIR2DL5B killer cell immunoglobulin-like receptor 2DL5A;killer cell immunoglobulin-like receptor KIR2DL5A;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 5A;killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5;killer-cell Ig-like receptor APPROVED protein-coding 16345 05603 605305 REVIEWED 1349353 KIFC1 kinesin family member C1 6 6 6 p21.3 34913703 34932095 + 33467583 33485625 + 33359313 33377701 + 1580863;6480464 8276466;19525938;19190132;19116309;17326138;17081983;15489334;14574404;12477932;11416179;10369922;22201025;18082152;19679349;19851445;21832049;21139048;21890473;21252943;22946058;21963094;23000965;23318213 3833 A2AB20;A2BEW4;Q9BW19 ABBA01038147;AI990093;AJ010479;AK297378;AK303239;AL021366;AL050332;AL662799;AMYH01016245;BC000712;BC063567;BC073878;BC098438;BC121041;BC121042;BE885900;BX088650;BX248088;CH471081;CR759793;D14678;NM_002263 AAH00712;AAH63567;AAH73878;AAH98438;AAI21042;AAI21043;BAA03509;BAG59820;BAG64325;CAA09217;CAA16157;CAB63782;EAX03726;EAX03727;EAX03728;NP_002254;Q9BW19 Hs.436912 1663588;1694162;1853518;2128792;2189549 AL035165;D6S1834;RH36517;STS-D14678;UniSTS:236125 HSET;KNSL2;MGC1202;MGC149736;MGC149737 OTTHUMP00000029296;kinesin-like 2;kinesin-like protein 2;kinesin-like protein KIFC1;kinesin-related protein HSET protein-coding ENSG00000237649 6389 603763 VALIDATED 1605151 KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] p13.3 6480464 19218127;19120281;18498296;18461314;17215859;16403292;12185535;11086080;10820258;22652695;20650299;19450876;19683555;19761533;20193031;20200544;20426625;20492596;20878400;21729574 553128 Q8NHK3;Q8NHK4 AF204905;AF217486;AF271607;AF271608;AF272157;AJ544587;AL133414;AY320039;NG_005994;NM_001018081 AAG44777;AAG44778;AAG44797;AAI56861;CAD67580;NP_001018091;Q8NHK3 Hs.740906 1802290;1810030;1819722;2046064;2046070;2046234;2046238;2046396;2046408;2046410;2046484;2158971;5014283;5020724 ECD02029;ECD06007;ECD10931;REN94122;REN94126;REN94131;REN94232;REN94236;REN94318;REN94324;REN94325;REN94362;RH18028;SHGC-35500 KIR2DL5;KIR2DL5.2;KIR2DLX CD158 antigen-like family member F2;killer cell Ig-like receptor;killer cell immunoglobulin-like receptor 2DL5B;killer cell immunoglobulin-like receptor 2DLX APPROVED protein-coding 16346 18687 REVIEWED 1605452 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 19 19 q13.4 59959276 59964032 + 55267464 55272220 + 19527230;19493232;19489269;19450876;19421224;19309280;19279038;19218127;19169284;19000141;18945962;18848853;18830515;18778326;18687225;18668235;18643961;18571006;18186800;18074414;17498266;17490516;16403292;10820258;20878400;19683555;19761533;19846535;19850842;19861144;19897003;19926642;20082482;20193031;20200544;20210918;20426625;20492596;20519398;20580654;20600442;20650299;20670355 554300 ABBA01068150;AC011501;AF204908;AMYH01009976;AY320039;CU041368;NG_005990;NG_005994 1807896;1844326;1844328;2045984;2046002;2046010;2046066;2046068;2046070;2046072;2046074;2046076;2046078;2046080;2046082;2046084;2046086;2046088;2046090;2046092;2046094;2046096;2104256;2104258;2104268 ECD04923;ECD23377;ECD23378;REN94075;REN94087;REN94092;REN94127;REN94128;REN94131;REN94132;REN94133;REN94134;REN94135;REN94136;REN94137;REN94138;REN94139;REN94140;REN94141;REN94144;REN94145;REN94146;stSG606296;stSG606297;stSG606318 KIR15;KIR2DL6;KIRY;KIRZ pseudo 16344 VALIDATED 1313072 KIFAP3 kinesin-associated protein 3 The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 1 1 q24.2 168157094 168310503 - 169890470 170043879 - 1580863;6480464 9506951;8900189;19088126;19064610;17113389;17002498;16713569;16710414;16298999;16262723;16043481;15489334;14702039;12477932;11912492;9427749;17825299;15032605;19451621;20080650;19762545;20566859;16344560;21988832;23000965;21659726;17043677;21900206;21139048;21890473;19654215 22920 B7Z7E7;Q92845 ABBA01027945;AI085654;AK026471;AK122897;AK297368;AK301912;AK303052;AK315586;AL121714;AL356475;AL445191;AMYH01001490;BC028679;BC048012;BG707718;CH471067;DA144269;NG_012883;NM_001204514;NM_001204516;NM_001204517;NM_014970;U59919 AAC50788;AAH28679;ABM81878;ABM85040;BAG37958;BAH12562;BAH13583;BAH13889;EAW90869;EAW90870;EAW90871;EAW90872;EAW90873;NP_001191443;NP_001191445;NP_001191446;NP_055785;Q92845 Hs.433442 1656589;1666795;1707434;2107247;2151541;2174324;7184214 A002K17;AL009672;D1S2192;D1S2521;KIFAP3__6518;SHGC-84509 FLA3;FLJ22818;KAP-1;KAP-3;KAP3;SMAP;Smg-GDS;dJ190I16.1 KAP-3;OTTHUMP00000034158;OTTHUMP00000034159;OTTHUMP00000034160;kinesin-associated protein 3;small G protein GDP dissociation stimulator;smg GDS-associated protein APPROVED protein-coding ENSG00000075945 17060 03499 601836 REVIEWED 1352702 KIFC2 kinesin family member C2 8 8 8 q24.3 141866838 141874598 + 145662546 145670307 + 145691738 145699499 + 1580863;6480464 17474147;15489334;14702039;12477932;9115737;9110174;8619474;16169070;21900206;22130050 90990 Q96AC6;Q96NN6 ABBA01005200;ABBA01005201;ABBA01005202;ABBA01005203;ABBA01005204;AC084125;AK055045;AMYH01019155;AY007121;BC015171;BC017311;CH471162;NM_145754 AAH15171;AAH17311;BAB70844;EAW82085;EAW82086;EAW82087;NP_665697;Q96AC6 Hs.528713 1647959;1767169;1798010 PPP1R16A_1616;RH1549;SGC33369 OTTHUMP00000228552;kinesin-like protein KIFC2 protein-coding ENSG00000167702 29530 13916 PROVISIONAL 1350757 KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] q13.4 1580863;6907045 18668235;18643961;18571006;18480828;18340360;18074414;17882223;17868255;17498266;17462498;16829306;16508981;16403292;15896204;12559621;9430221;9430220;8662091;7749980;8765026;19630074;19527230;19493232;19489269;19450876;19421224;19410616;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19032228;19005473;19000141;18848853;18830515;18778326;18764809;18687225;18681957;20528243;20580654;20600442;20643584;20650299;20652381;20670355;19500138;19664392;19683555;19761533;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20137308;20173784;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20173792;20878400;20371915;21402922;22653583;22219647 3808 K7QT50;Q14952 AF022047;AL133414;AM851002;AY320039;AY789063;GU182339;GU182347;GU182351;L76670;NG_005994;NM_012313;X97231 AAB36598;AAB95320;AAI56609;AAX23108;ADJ94516;ADJ94582;ADJ94615;CAA65870;CAO98983;NP_036445;Q14952 Hs.744266 1849467;5113128 RH69059;RH76182 NKAT7 MHC class I NK cell receptor;NKAT-7;killer cell immunoglobulin-like receptor 2DS3;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 3;natural killer cell inhibitory receptor;natural killer-associated transcript 7 APPROVED protein-coding 6335 05386 604954 REVIEWED 1317029 KIFC3 kinesin family member C3 KIFC3 belongs to the large superfamily of kinesins, molecular motors that use the energy of ATP hydrolysis to translocate cargoes along microtubules. Members share extensive homology within a globular domain containing the microtubule- and ATP-binding sites and have a coiled-coil stalk domain that mediates oligomerization. Different kinesin family members participate in specific and diverse motile processes, such as cell division, organelle transport, and nuclear movement (Hoang et al., 1998 [PubMed 9782090]).[supplied by OMIM, Mar 2009] 16 16 q13-q21 56349630 56393940 - 57792129 57836439 - 1580863;6480464;6484113 9782090;17286855;16344560;15489334;14702039;12477932;12135985;11581287;10375449;8240664;19913121;20628086;19041755;19789344;21832049;19953087;20309963;20360068 3801 B7Z484;B7Z896;F5H3M2;F5H4I9;H3BMJ1;H3BMQ3;H3BMR0;H3BMZ5;H3BNZ0;H3BPE2;H3BRQ1;H3BSN2;H3BTE9;H3BTL6;H3BTN1;H3BTU1;H3BUC0;H3BV47;Q9BVG8 AB209290;ABBA01025282;ABBA01025283;AC092118;AF004426;AK091891;AK092013;AK291737;AK295926;AK296995;AK299431;AK302743;AK303021;AK304132;AK307846;AMYH01007704;BC001211;BC008014;BC019057;BC034234;BC041132;BC047051;BX647698;CH471092;DA989120;DC381406;DQ426879;NM_001130099;NM_001130100;NM_005550 AAC24153;AAH01211;AAH08014;AAH34234;AAH41132;AAH47051;ABD90538;ABM82783;ABM85972;BAD92527;BAF84426;BAH12222;BAH12470;BAH13030;BAH13794;BAH13882;BAH14114;CAI46023;EAW82953;EAW82954;EAW82955;EAW82956;NP_001123571;NP_001123572;NP_005541;Q9BVG8 Hs.23131 1658886;1683829;1699038;2159540 RH103092;RH65012;SHGC-60791;STS-AA021567 DKFZp686D23201;FLJ34694 OTTHUMP00000164659;kinesin-like protein KIFC3 APPROVED protein-coding ENSG00000140859 6326 05171 604535 VALIDATED 1345824 KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] q13.4 1580863;6480464;6907045 16829306;16698433;8662091;19421224;19410616;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19032228;19000141;18945962;18848853;18830515;18778326;18765192;18687225;18682925;18681957;18668235;18643961;18638658;18624290;18571006;18555529;18498296;18315912;17868255;17592337;17498266;17490516;17174747;16698429;16403292;15896204;14607943;12559621;11144295;8765026;7749980;20580654;20600442;20643584;20650299;20652381;20670355;19450876;19493232;19500138;19527230;19630074;19664392;19683555;19761533;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20865034;20878400;22652695;21233146;21729574;22836040;21867738;22376216;21145461;23028591 3810 Q14953;Q7L8K3 AF208054;AF272389;AL133414;AY320039;AY366247;AY366248;CU459006;GU182355;L76672;NG_005994;NM_014513;XM_003403402;XM_003846800 AAB36600;AAG35724;AAI60061;AAK83693;AAR16205;AAR16206;ADJ94648;NP_055328;Q14953;XP_003403450;XP_003846848 Hs.744266 1770744;1811226;1844326;1844328;1849467;2045990;2046010;2046016;2046018;2046026;2046040;2046044;2046058;2046084;2046132;2046174;2046176;2046178;2046184;2046192;2046194;2046196;2046200;2046202;2046204;2046206;2046208;2046238;2158971;5020724;5107975;5111062;5113128 ECD06611;ECD23377;ECD23378;REN94081;REN94092;REN94099;REN94100;REN94105;REN94112;REN94114;REN94123;REN94138;REN94168;REN94190;REN94191;REN94192;REN94195;REN94199;REN94201;REN94202;REN94205;REN94210;REN94211;REN94212;REN94214;REN94236;RH18028;RH69059;RH76182;SHGC-35499;SHGC-35500;STS-L76672;STS-U24075 CD158G;NKAT9 CD158 antigen-like family member G;MHC class I NK cell receptor;NKAT-9;killer cell immunoglobulin-like receptor 2DS5;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 5;natural killer cell inhibitory receptor;natural killer-associated transcript 9 APPROVED protein-coding 6337 05388 604956 REVIEWED 1353116 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 q13.4 60006879 60017784 + 55315067 55325972 + 1580863;6480464;6907045 8946682;19326408;19309280;19304799;19304328;19279038;19218127;19169284;19134329;19046302;19032228;19000141;18945962;18945643;18848853;18778326;18718052;18668235;18643961;18586981;18571006;18347914;18314122;18292514;18186800;18082267;18074414;17868255;17610421;17498266;17490516;17200871;17171757;16403292;16366734;15896204;15853895;15780179;15778373;15778339;15730517;15670976;15580659;15333596;14700593;14500636;12902476;12826375;12794136;12616484;12559621;12538663;12477932;12370356;12055234;11994457;11754000;11489965;11169255;10190900;9430221;9430220;9234477;9059894;20580654;20600442;20643584;20650299;20652381;20670355;18604210;19394279;19450876;19489269;19509110;19527230;19589363;19630074;19675166;19679155;19683555;19700612;19761533;19846535;19861144;19875891;19897003;19926642;19968064;20082482;20082646;20173784;20173792;20179272;20193031;20200544;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;17207965;20878400;17498270;21270397;23184984;21092455;21607693;21623736;22467658;22320834 3805 A8MT18;E7EST5;P78401;Q8N736 ABBA01068150;AC011501;AF002256;AF002979;AF002980;AF002981;AF002982;AF003123;AF034771;AF034772;AF034773;AF110035;AF276292;AF285436;AK309531;AK310066;AM404442;AMYH01009976;AY052496;AY052497;AY223512;AY223513;AY223514;AY223515;AY250088;AY320039;AY359817;AY601812;AY727757;AY727758;AY727759;AY727760;AY727761;AY727762;AY727763;AY727764;AY789058;AY789059;AY789060;AY789061;AY789062;BC028137;BC041611;BM918119;CH471135;CU151839;CU459006;DQ266438;DQ272466;DQ371563;DQ371564;DQ371565;DQ371566;DQ371567;DQ371568;DQ371569;EU194340;EU194341;EU194342;GU182341;GU182343;GU182346;HM997084;NG_005990;NG_005994;NM_001080770;NM_001080772;NM_002255;U71199;U73394;X97229;X99479;X99480;X99481;Y13054 AAB49756;AAB61282;AAB61926;AAB71387;AAB71388;AAB71389;AAB71390;AAB95164;AAB95165;AAB95166;AAC51146;AAD24763;AAG34927;AAG44820;AAH41611;AAL14211;AAL14212;AAO46034;AAO46035;AAO46036;AAO46037;AAP02958;AAQ83723;AAT11793;AAW32088;AAW32089;AAW32090;AAW32091;AAW32092;AAW32093;AAW32094;AAW32095;AAX23103;AAX23104;AAX23105;AAX23106;AAX23107;ABB73033;ABB84493;ABD38576;ABW73959;ABW73960;ABW73961;ADJ94534;ADJ94550;ADJ94574;ADQ32875;ADY90046;CAA65868;CAA67842;CAA67843;CAA67844;CAA73497;CAL49524;EAW72279;EAW72280;EAW72281;EAW72282;EAW72283;NP_001074239;NP_001074241;NP_002246;Q99706 Hs.661219;Hs.743945 1799808;1802290;1808176;1808246;1816466;1835528;1840876;2046212;2046372;2046374;2046376;2046378;2046380;2046382;2046384;2046386;2046388;2046390;2046392;2046394;2046398;2046400;2046402;2046404;2046406;2046408;2046410;2046412;2046414;2046416;2046418;2046420;2046422;2046424;2046426;2046428;2046430;2046432;2046434;2046436;2046438;2046440;2046442;2046444;2046446;2046448;2046450;2046452;2046454;2046456;2046458;2046460;2046462;2046464;2046466;2046468;2046470;2046472;2046474;2046476;2046478;2046480;2046482;2046484;2046486;2046488;2104262;2104282;2104284;2104286;2104288;2104290;2104292;2104294;2104296;5014283;5020724;5038184;5095822;5107975;5111062 ECD00758;ECD02029;ECD05069;ECD05104;ECD09275;ECD18920;ECD21631;REN94062;REN94122;REN94218;REN94306;REN94307;REN94308;REN94309;REN94310;REN94311;REN94312;REN94313;REN94314;REN94315;REN94316;REN94317;REN94319;REN94320;REN94321;REN94322;REN94323;REN94324;REN94325;REN94326;REN94327;REN94328;REN94329;REN94330;REN94331;REN94332;REN94333;REN94334;REN94335;REN94336;REN94337;REN94338;REN94339;REN94340;REN94341;REN94342;REN94343;REN94344;REN94345;REN94346;REN94347;REN94348;REN94349;REN94350;REN94351;REN94352;REN94353;REN94354;REN94355;REN94356;REN94357;REN94358;REN94359;REN94360;REN94361;REN94362;REN94363;REN94364;RH18028;SHGC-35499;STS-U24075;STS-X97229;stSG606302;stSG606325;stSG606326;stSG606327;stSG606328;stSG606329;stSG606330;stSG606331;stSG606332 CD158D;G9P;KIR103;KIR103AS CD158 antigen-like family member D;KIR-103AS;MHC class I NK cell receptor KIR103AS;NK cell receptor;OTTHUMP00000068610;OTTHUMP00000068611;OTTHUMP00000068612;OTTHUMP00000068614;OTTHUMP00000068615;OTTHUMP00000068616;killer Ig receptor;killer cell immunoglobulin-like receptor 2DL4;killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 4;killer cell inhibitory receptor 103AS;natural killer cell inhibitory receptor APPROVED protein-coding ENSG00000189013 6332 16082 604945 REVIEWED 1351159 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 q13.4 59941786 59956316 + 55249974 55264504 + 1580863;6480464;6907045 18778326;18830515;18755860;18687225;18681957;18668235;18643961;18632158;18571006;18543232;18322206;18292496;18289678;18269867;18158964;18091530;17882223;17868255;17522341;17498266;17490516;17285553;17200871;17145370;16929347;16571411;16403292;16112031;15896204;15879158;15730517;15489334;15297676;15248031;15227739;15217996;12559621;12477932;12121272;11958591;11904677;11169255;10497191;10424431;10196125;9768753;9751747;9497500;9430221;9430220;9378975;9234478;8692965;8662091;7716543;3501368;9059894;7749980;19421224;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19032228;19000141;18848853;20580654;20600442;20643584;20650299;20652381;20670355;20875478;20525888;18604210;19394706;19450876;19489269;19493232;19522772;19527230;19552960;19630074;19664392;19683555;19711124;19761533;19789864;19837691;19846535;19850842;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20056126;20077564;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20356536;20371502;20483367;20492596;20519398;9148918;20331834;20878400;20935224;21165439;21832049;23370861;19549382;21729574;21931540;22118180;22412373;22772445;22960345;22185807 3804 E3NZD8;I3L0I9;P43628 ABBA01068150;AC006293;AC011501;AF022048;AF135556;AF135566;AF135567;AF285435;AMYH01009976;AY789057;BC032422;BC050730;BC110613;CU041368;CU459007;CU464054;CU464060;CU467816;FJ188688;FJ188689;FJ188690;FJ188691;FJ188692;FJ188693;L41268;L76662;L76663;NG_005990;NM_015868;U24074;U50546;U73395;U96190 AAA69869;AAB17730;AAB36590;AAB36591;AAB54120;AAB95321;AAC50333;AAC51147;AAD03160;AAD48760;AAD48761;AAD48764;AAG34926;AAH32422;AAH50730;AAI10614;AAX23102;ABM84717;ABM92239;ADN34697;ADN34698;ADN34699;ADN34700;ADN34701;ADN34702;NP_056952;P43628 Hs.654608;Hs.731378 1804244;1810486;1811226;1816700;1835898;1844326;1844328;2045964;2045966;2045968;2045970;2045972;2045974;2045976;2045978;2045980;2045986;2045988;2045990;2045992;2045994;2045996;2045998;2046000;2046002;2046004;2046006;2046008;2046010;2046012;2046014;2046016;2046018;2046020;2046022;2046026;2046028;2046032;2046034;2046036;2046038;2046040;2046042;2046044;2046046;2046048;2046050;2046052;2046054;2046056;2046058;2046060;2046062;2046082;2046096;2046098;2046106;2046108;2046176;2046192;2046196;2046222;2104254;2219166;5014275;5014281;5014283;5014380;5016436;5020724;5038184;5038382;5096309;5111062;5113128 ECD03046;ECD06236;ECD06611;ECD09393;ECD11136;ECD11215;ECD19110;ECD23377;ECD23378;G29839;KIR2DL3_2529;REN94062;REN94063;REN94065;REN94066;REN94067;REN94068;REN94069;REN94070;REN94071;REN94072;REN94073;REN94076;REN94080;REN94081;REN94082;REN94083;REN94084;REN94085;REN94086;REN94087;REN94088;REN94089;REN94090;REN94092;REN94093;REN94094;REN94097;REN94099;REN94100;REN94101;REN94102;REN94105;REN94106;REN94108;REN94109;REN94110;REN94111;REN94112;REN94113;REN94114;REN94115;REN94116;REN94117;REN94118;REN94120;REN94121;REN94122;REN94123;REN94124;REN94125;REN94137;REN94146;REN94148;REN94152;REN94153;REN94191;REN94199;REN94202;REN94226;RH18028;RH76182;SHGC-35391;STS-U24075;stSG606279 CD158B2;CD158b;GL183;KIR-023GB;KIR-K7b;KIR-K7c;KIRCL23;MGC129943;NKAT;NKAT2;NKAT2A;NKAT2B;p58 CD158 antigen-like family member B2;MHC class I NK cell receptor;NK-receptor;NKAT-2;OTTHUMP00000068619;killer cell immunoglobulin-like receptor 2DL3;killer inhibitory receptor cl 2-3;natural killer associated transcript 2;natural killer cell inhibitory receptor KIR2DL3;natural killer-associated transcript 2;p58 NK receptor CL-6;p58 natural killer cell receptor clone CL-6;p58.2 MHC class-I specific NK receptor;p58.2 MHC class-I-specific NK receptor APPROVED protein-coding ENSG00000243772 6331 10383 604938 REVIEWED 1603443 KIR3DP1 killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011] 19 19 q13.42 59989626 59993682 + 55297814 55301870 + 19527230;19450876;19405872;19309280;19218127;17498266;16403292;15580659;15194195;10820258;20600442;20650299;20652381;19897003;20082482;20082646;20193031;20200544;20210918;20670355;20878400;20426625;20492596;18186800;18347914;18571006;18668235;18687225;18778326;18848853;18945962;19000141;19169284;19279038;19683555;19761533;19846535;19861144 548594 A8MWS1;Q7L8K4 ABBA01068150;AC011501;AF133901;AF204919;AMYH01009976;AY320039;CU041368;NG_005990;NG_005994 A8MWS1;AAD24475 1682868;1799396;1799806;1800186;1807088;1807352;1811226;1815164;1816288;1816700;1819056;1819722;1819844;1829458;1841260;2045982;2045990;2046000;2046010;2046016;2046018;2046034;2046044;2046070;2046084;2046090;2046130;2046140;2046142;2046144;2046146;2046148;2046150;2046152;2046154;2046156;2046158;2046160;2046162;2046164;2046166;2046168;2046170;2046172;2046174;2046176;2046178;2046180;2046182;2046184;2046186;2046188;2046190;2046192;2046194;2046196;2046198;2046200;2046202;2046204;2046206;2046208;2046210;2046212;2046214;2046216;2046218;2046220;2046222;2046224;2046226;2046228;2046230;2046232;2046234;2046236;2046238;2046240;2046242;2046244;2046246;2046248;2046250;2046252;2046254;2046256;2046258;2046260;2046262;2046264;2046266;2046268;2046270;2046272;2046274;2046276;2046278;2046280;2046282;2046284;2046286;2046288;2046290;2046292;2046294;2046296;2046298;2046300;2046302;2046304;2046306;2046308;2046310;2046312;2046314;2046316;2046318;2046320;2046322;2046324;2046326;2046328;2046330;2046332;2046334;2046336;2046338;2046340;2046342;2046396;2104264;2104266;2104268;2104270;2104272;2104274;2104276;2104278;2104280;2121622;2217520;2219166 CHLC.GAAT4F04;ECD00549;ECD00757;ECD00950;ECD04509;ECD04647;ECD06611;ECD08616;ECD09186;ECD09393;ECD10594;ECD10931;ECD10992;ECD15860;ECD21826;KIR2DL2_3394;KIR2DL3_2529;REN94074;REN94081;REN94086;REN94092;REN94099;REN94100;REN94109;REN94114;REN94131;REN94138;REN94141;REN94166;REN94173;REN94174;REN94175;REN94176;REN94177;REN94178;REN94179;REN94180;REN94181;REN94182;REN94183;REN94184;REN94185;REN94186;REN94187;REN94188;REN94189;REN94190;REN94191;REN94192;REN94193;REN94194;REN94195;REN94196;REN94197;REN94198;REN94199;REN94201;REN94202;REN94204;REN94205;REN94210;REN94211;REN94212;REN94214;REN94217;REN94218;REN94219;REN94223;REN94224;REN94225;REN94226;REN94227;REN94228;REN94229;REN94230;REN94231;REN94232;REN94235;REN94236;REN94237;REN94238;REN94239;REN94240;REN94241;REN94242;REN94243;REN94244;REN94245;REN94247;REN94249;REN94250;REN94251;REN94253;REN94254;REN94255;REN94256;REN94257;REN94258;REN94259;REN94260;REN94261;REN94262;REN94263;REN94264;REN94265;REN94266;REN94267;REN94268;REN94269;REN94270;REN94271;REN94272;REN94273;REN94274;REN94275;REN94276;REN94277;REN94278;REN94279;REN94280;REN94281;REN94282;REN94283;REN94284;REN94285;REN94286;REN94287;REN94288;REN94289;REN94290;REN94291;REN94318;RH76307;stSG606305;stSG606317;stSG606318;stSG606319;stSG606320;stSG606321;stSG606322;stSG606323;stSG606324 CD158c;KIR2DS6;KIR3DS2P;KIR48;KIRX APPROVED pseudo 16343 18682 610604 REVIEWED 1347492 KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] q13.4 1580863;6480464;6907045 8627176;19421224;19410616;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19032228;19000141;18945962;18848853;18778326;18755860;18687225;18681957;18668235;18643963;18643961;18571006;18340360;18263639;18074414;17882223;17868255;17617375;17498266;17445179;16829306;16806233;16698429;16504727;16403292;16185272;16141329;16112031;15896204;15310528;15140215;15057824;12559621;12477932;11169255;10527385;10424431;9464792;9430221;9430220;7650491;17092261;18759923;19959527;21145461;21355085;20528243;20580654;20600442;20643584;20650299;20652381;20670355;19450876;19489269;19493232;19500138;19527230;19630074;19664392;19683555;19761533;19830740;19846535;19850842;19861144;19875891;19877200;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20093094;20137308;20173784;20173792;20193031;20200544;20207982;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20826009;20878400;21791599;21797986;23554313;21479698;22653583;21844874;22931314;23380384 3806 K7QUS8;Q14954 AF022046;AF285437;AL133414;AM999888;AY320039;BC096725;EF690312;GL949747;GL949749;GL949751;GU182339;GU182347;GU182352;GU182355;GU182359;NG_005994;NM_014512;X89892;X98858 AAB95319;AAG34928;AAI66637;ABV55503;ADJ94522;ADJ94588;ADJ94628;ADJ94651;ADJ94681;CAA61982;CAA67364;CAQ53833;NP_055327;Q14954 Hs.744319 1799396;1811226;1816700;1819722;1849467;2045990;2046000;2046016;2046018;2046068;2046084;2046118;2046154;2046156;2046158;2046162;2046164;2046166;2046168;2046170;2046172;2046174;2046176;2046178;2046180;2046184;2046186;2046188;2046190;2046192;2046194;2046196;2046200;2046202;2046204;2046206;2046208;2046252 ECD00549;ECD06611;ECD09393;ECD10931;REN94081;REN94086;REN94099;REN94100;REN94128;REN94138;REN94159;REN94180;REN94181;REN94182;REN94184;REN94185;REN94186;REN94187;REN94188;REN94189;REN94190;REN94191;REN94192;REN94193;REN94195;REN94196;REN94197;REN94198;REN94199;REN94201;REN94202;REN94205;REN94210;REN94211;REN94212;REN94214;REN94243;RH69059 CD158H;CD158a;p50.1 CD158 antigen-like family member H;KIR2DL1-KIR2DS1;MHC class I NK cell receptor Eb6 ActI;killer cell immunoglobulin-like receptor 2DS1;killer cell immunoglobulin-like receptor KIRDS1;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 1;killer-cell immunoglobulin-like receptor APPROVED protein-coding 6333 05384 604952 REVIEWED 1344459 KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] q13.4 1580863;6480464 18074414;17882223;17868255;17767567;17498266;17497034;17490516;17445184;17445179;17200871;16929347;16824023;16623599;16504727;16403292;16112031;15896204;15699512;15580655;15356118;15194195;15146426;15057824;14607943;14514651;12668644;12591902;12559621;12477932;11470774;11369787;11172020;11169398;11169255;10658980;10424431;9497500;9490415;8662091;7749980;7716543;18091530;8627176;19527230;19493232;19489269;19450876;19421224;19410616;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19000141;18976447;18945962;18848853;18830515;18778326;18755860;18687225;18681957;18668235;18643961;18571006;18340360;18292496;18158964;19630074;19664392;19683555;19761533;19830740;19846535;19850842;19861144;19875891;19877200;19897003;19926642;19934297;19936734;19968064;20082482;20082621;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20802150;20528243;20580654;20600442;20643584;20650299;20652381;20670355;20878400;21165439;21233146;22024796;23380384;21593779;21596150;22065905;22509813;22939905;22836042;22960345;23325834;21373785 100132285 K7R1S5;P43631 AF074087;AF135565;AF285438;AJ002102;AJ002103;AJ002104;AJ002105;AL133414;AM409094;AY320039;AY366243;AY366244;BC108917;BC119631;BC119632;BC125146;BC126856;CU467816;FR750994;L41347;L76667;L76668;NG_005994;NM_012312;U24079;X89893 AAA65225;AAB36595;AAB36596;AAC26790;AAC50338;AAD48759;AAG34929;AAI08918;AAI19632;AAI19633;AAI25147;AAI26857;AAR16201;AAR16202;CAA05182;CAA05183;CAA05184;CAA05185;CAA61983;CAL64379;CAX15031;CBY85056;NP_036444;P43631 Hs.512572;Hs.731378 1802494;1804244;1807352;1810486;1844326;1844328;1849467;2045962;2045968;2045970;2045972;2045974;2045976;2045978;2045980;2045986;2045988;2045990;2045992;2045994;2045996;2045998;2046000;2046002;2046006;2046008;2046010;2046014;2046016;2046018;2046024;2046030;2046040;2046044;2046096;2046102;2046118;2046174;2046176;2046192;2046202;2046204;2046206;2104256;2104258;2158971;5016436;5020724;5107975;5111062;5113128 ECD02133;ECD03046;ECD04647;ECD06236;ECD23377;ECD23378;REN94064;REN94067;REN94068;REN94069;REN94070;REN94071;REN94072;REN94073;REN94076;REN94080;REN94081;REN94082;REN94083;REN94084;REN94085;REN94086;REN94087;REN94089;REN94090;REN94092;REN94094;REN94099;REN94100;REN94104;REN94107;REN94112;REN94114;REN94146;REN94150;REN94159;REN94190;REN94191;REN94199;REN94210;REN94211;REN94212;RH18028;RH69059;RH76182;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075;stSG606296;stSG606297 183ActI;CD158J;CD158b;MGC120018;MGC120020;MGC149477;MGC149478;NKAT5;cl-49 1060P11.9.2;CD158 antigen-like family member J;MHC class I NK cell receptor;NK receptor 183 ActI;NKAT-5;killer cell immunoglobulin-like receptor 2DS2;killer-cell Ig-like receptor;killer-cell immunoglobulin-like receptor two domains short tail 2 protein;natural killer associated transcript 5;natural killer cell inhibitory receptor;natural killer-associated transcript 5;p58 KIR;p58 NK receptor CL-49;p58 killer cell inhibitory receptor KIR-K7a;p58 natural killer cell receptor clone CL-49 APPROVED protein-coding 6334 604953 REVIEWED 1348050 KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 q13.4 60035986 60051835 + 55344174 55360023 + 1580863;6480464;6907045 7749980;19421224;19410616;19326408;19309280;19279038;19218127;19181658;19169284;19120281;19046302;19032228;19000141;18945962;18848853;18830515;18778326;18687225;18681957;18668235;18643961;18632158;18571006;18463675;18444913;18340360;18186800;17868255;17498266;17493145;17490516;17257315;17200871;17145370;16641046;16403292;15730517;15265913;15219381;14607943;12477932;12445308;12391228;11390475;11169255;10816589;10424431;9521070;9378975;8765026;8662091;15896204;20580654;20600442;20643584;20650299;20652381;20670355;19450876;19489269;19493232;19527230;19552960;19589363;19630074;19664392;19683555;19761533;19846535;19850842;19858347;19859704;19861144;19875891;19897003;19926642;19934297;19936734;19968064;20034528;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20207982;20210918;20210919;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20878400;20062104;21216870;21554925;21596150;22128817;22939905;23325834;23028591 3809 P43632;Q9UQL7 ABBA01068150;AC011501;AF002255;AF134312;AF134316;AF135563;AJ417554;AJ417555;AJ620615;AJ620616;AL133414;AMYH01009976;AY102623;AY102624;AY366245;AY366246;AY388472;AY789064;BC096694;BC101977;BC103693;BC108918;BC125147;BC127084;BC144566;BC171788;CH471135;CU151839;CU459006;CU464062;CU464063;GU182338;GU182342;GU182344;GU182350;GU182353;GU182354;GU182356;GU182358;GU182360;L76671;NG_005990;NM_012314;U24077;U96188;X94609 AAB36599;AAB54118;AAB61281;AAC50336;AAD24479;AAD48757;AAH96694;AAI01978;AAI03694;AAI08919;AAI25148;AAI27085;AAI44567;AAI71788;AAM52329;AAM52330;AAR16203;AAR16204;AAR26325;AAX23109;ADJ94510;ADJ94543;ADJ94559;ADJ94608;ADJ94634;ADJ94640;ADJ94655;ADJ94674;ADJ94692;CAA64317;CAD10378;CAD10379;CAF05810;CAF05811;EAW72287;EAW72288;NP_036446;P43632 Hs.654608 1810486;1849467;2046026;2046028;2046092;2046098;2046102;2046104;2046110;2046118;2046174;2158971;5016436;5020724;5107975;5111062;5113128 ECD06236;REN94105;REN94106;REN94144;REN94148;REN94150;REN94151;REN94154;REN94159;REN94190;RH18028;RH69059;RH76182;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075 CD158I;KIR1D;KIR412;KKA3;MGC120019;MGC125315;MGC125317;NKAT8 CD158 antigen-like family member I;KIR antigen 2DS4;MHC class I NK cell receptor;NKAT-8;OTTHUMP00000199030;P58 natural killer cell receptor clones CL-39/CL-17;killer cell immunoglobulin-like receptor 2DS4;killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 4;killer inhibitory receptor 4-1-2;natural killer cell inhibitory receptor;natural killer-associated transcript 8;p58 NK receptor CL-39/CL-17 APPROVED protein-coding ENSG00000221957 6336 05387 604955 REVIEWED 5132806 KIRREL-IT1 KIRREL intronic transcript 1 (non-protein coding) 1 157995345 158001611 + 100505785 AL139010;XR_108362 miscrna 41412 MODEL 1343393 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] 19 19 q13.4 60053710 60070474 + 55361898 55378670 + 1580863;6480464;6907045 7716543;19630074;19589363;19527230;19489269;19479859;19450876;19326408;19309280;19279038;19218127;19165527;19046302;19032228;19019897;19000141;18945962;18941190;18848853;18778326;18718052;18668235;18643961;18571006;18347914;18186800;18074414;18061949;17868255;17661911;17498266;17490516;16962036;16948642;16767680;16403292;15896204;15730517;15304002;14607943;14562047;12559621;12538663;12477932;11904677;11859120;11207248;10861046;10774747;9430221;8777725;8760804;8662091;8617928;7749980;20580654;20600442;20643584;20650299;20652381;20670355;19683555;19761533;19846535;19858347;19861144;19875891;19897003;19926642;19953898;19968064;20082482;20082646;20137308;20173784;20173792;20193031;20200544;20210918;20210919;20331834;20356536;20426625;20483367;20492596;20519398;20147700;20878400;21248258;21406041;21607693;23440420;22621189;22190034;23429988 3812 P43630;Q8NHI6;Q8NHK6 ABBA01068150;AC011501;AF208683;AF208684;AF208685;AF208686;AF208687;AF208690;AF262965;AF262966;AF262967;AF263617;AJ276125;AMYH01009976;AY059418;AY059419;AY059420;AY366256;AY789067;AY789068;AY789069;AY789070;AY789071;BC105678;BC107951;BP384308;CH471135;CU151839;CU459006;CU464055;CU464061;CU464062;CU464063;CU633846;DQ256504;DQ371620;DQ371621;DQ371622;DQ371623;DQ371624;DQ371625;DQ371626;DQ371627;DQ371628;EF582384;GU065736;GU182341;GU182348;HM854038;L41270;L76665;L76666;NG_005990;NG_012802;NM_001242867;NM_006737;U30272;X93595;X93596;X94373;X94374;Y11358 AAA69871;AAB36593;AAB36594;AAB52520;AAF29515;AAF29516;AAF29517;AAF29518;AAF29519;AAF29522;AAI05679;AAI07952;AAK30052;AAK30053;AAK30054;AAK30062;AAL27093;AAL27094;AAL27095;AAR16214;AAX23112;AAX23113;AAX23114;AAX23115;AAX23116;ABB71822;ABD38581;ABU62836;ADI95458;ADJ94537;ADJ94596;ADY90042;CAA63791;CAA63792;CAA64150;CAA64151;CAA72192;CAC35466;CAQ08880;EAW72289;EAW72290;NP_001229796;NP_006728;P43630 Hs.645228;Hs.645532;Hs.654605 1661873;1812936;1816212;2045882;2045968;2045970;2046058;2046214;2046398;2046518;2046542;2046544;2046552;2046554;2046556;2046560;2046568;2046570;2158971;5014380;5038382 ECD07482;ECD09147;ECD11136;ECD11215;REN94020;REN94067;REN94068;REN94123;REN94219;REN94319;REN94380;REN94393;REN94394;REN94398;REN94399;REN94400;REN94402;REN94406;REN94407;SHGC-35500;STS-X93596 CD158K;MGC125321;NKAT-4;NKAT4;NKAT4B;p140 CD158 antigen-like family member K;KIR antigen 3DL2;MHC class I NK cell receptor;NKAT-4;OTTHUMP00000068689;OTTHUMP00000068690;killer Ig receptor;killer cell immunoglobulin-like receptor 3DL2;killer cell immunoglobulin-like receptor KIR3DL2;killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 2;natural killer associated transcript 4;natural killer cell inhibitory receptor;natural killer-associated transcript 4;p70 NK receptor CL-5;p70 killer cell inhibitory receptor;p70 natural killer cell receptor clone CL-5 APPROVED protein-coding ENSG00000240403 6339 10384 604947 REVIEWED 1352085 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008] 19 19 q13.42 59927796 59939815 + 55235984 55248003 + 1580863;6480464;6907045 19630074;19527230;19489269;19450876;19326408;19279038;19309280;19218127;19169284;19046302;19032228;19000141;18945962;18848853;18778326;18668235;18643961;18571006;18347914;18186800;18074414;17900289;17868255;17498266;17490516;16823588;16634863;16403292;16391939;15896204;15778373;15730517;11960306;11513144;9862332;20580654;20600442;20643584;20650299;20652381;20670355;12477932;19683555;19761533;19846535;19861144;19875891;19897003;19926642;19968064;20082482;20082646;20173784;20173792;20193031;20200544;20210919;20331834;20356536;20426625;20483367;20492596;20519398;20210918;20878400;21607693 115653 Q7Z7N4 ABBA01068150;AC006293;AF072410;AF352324;AJ938052;AJ938053;AJ938054;AJ938055;AJ938056;AJ938057;AJ938058;AJ938059;AJ938060;AJ938061;AJ938062;AJ938063;AJ938064;AJ938065;AJ938066;AM493896;AMYH01009976;AY083462;AY320039;AY987937;AY987938;AY987939;AY987940;AY987941;AY987942;AY987943;BC136283;BC143802;CH471135;CU041368;CU459007;CU464054;CU466259;CU467816;GU182354;GU944889;HM999922;HM999929;NG_005990;NG_005994;NM_153443 AAC99763;AAD03159;AAI36284;AAI43803;AAK30258;AAM00024;ABC03227;ABC03228;ABC03229;ABC03230;ABC03231;ABC03232;ABC03233;ADJ94637;ADY38443;ADY90049;ADY90056;CAI79387;CAI79388;CAI79389;CAI79390;CAI79391;CAI79392;CAI79393;CAI79394;CAI79395;CAI79396;CAI79397;CAI79398;CAI79399;CAI79400;CAI79401;CAM35484;EAW72274;NP_703144;Q8N743 Hs.645224 1770744;1806338;1807500;1810030;1811380;1812874;1814852;1816212;1835898;2045850;2045852;2045854;2045856;2045858;2045860;2045862;2045864;2045866;2045868;2045870;2045872;2045874;2045876;2045878;2045880;2045882;2045884;2045886;2045888;2045890;2045892;2045894;2045896;2045898;2045900;2045902;2045904;2045906;2045908;2045910;2045912;2045914;2045916;2045918;2045920;2045922;2045924;2045926;2045928;2045930;2045932;2045934;2045936;2045938;2045940;2045942;2045944;2045946;2045948;2045950;2045952;2045954;2045956;2045958;2045960;2045962;2045964;2045966;2046126;2104236;2104238;2104240;2104242;2104244;2104246;2104248;2104250;2104252;2187779;5014275;5014283;5016436;5020724;5038184;5107975;5113128 ECD04124;ECD04722;ECD06007;ECD06688;ECD07450;ECD08457;ECD09147;ECD19110;G69474;REN94001;REN94002;REN94003;REN94004;REN94005;REN94006;REN94007;REN94008;REN94009;REN94013;REN94014;REN94015;REN94016;REN94017;REN94018;REN94019;REN94020;REN94021;REN94022;REN94023;REN94024;REN94025;REN94026;REN94027;REN94028;REN94029;REN94030;REN94031;REN94032;REN94035;REN94036;REN94037;REN94038;REN94039;REN94040;REN94041;REN94042;REN94043;REN94044;REN94045;REN94046;REN94047;REN94048;REN94049;REN94050;REN94051;REN94052;REN94053;REN94054;REN94055;REN94056;REN94057;REN94058;REN94059;REN94060;REN94061;REN94062;REN94063;REN94064;REN94065;REN94066;REN94122;REN94164;RH18028;RH76182;SHGC-35391;SHGC-35499;STS-L76672;stSG606270;stSG606271;stSG606272;stSG606273;stSG606274;stSG606275;stSG606276;stSG606277;stSG606278 CD158Z;KIR3DL7;KIR44;KIRC1 CD158 antigen-like family member Z;OTTHUMP00000068617;killer cell Ig-like receptor KIR3DL7;killer cell immunoglobulin-like receptor 3DL3;killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 3;killer cell inhibitory receptor 1 APPROVED protein-coding ENSG00000242019 16312 17236 610095 REVIEWED 6481084 KIRREL3-AS1 KIRREL3 antisense RNA 1 100874250 AP000741 APPROVED miscrna 42655 735895 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] 19 19 q13.4 60019705 60034045 + 55327893 55342233 + 6480464;6907045;7240710 21115737;19630074;19527230;19522772;19493232;19489269;19450876;19421224;19386717;19326408;19309280;19279038;19218127;19211742;19181658;19169284;19120281;19118512;19116110;19046302;19032228;19019897;19008943;19000148;19000141;18945962;18941220;18848853;18830515;18800608;18778326;18718052;18687225;18668235;18643961;18638658;18632158;18614872;18571006;18515573;18502829;18453594;18385451;18358829;18340360;18331531;18301382;18269867;18186800;17990989;17950922;17868255;17714418;17694054;17498266;17493145;17490516;17462498;17385087;17383044;7716543;17301953;17182560;17182537;16818466;16805919;16508981;16403292;16210627;15896204;15784466;15730517;15580659;15217996;14662867;14607943;12826375;12794136;12559621;12538663;12477932;12244166;11904677;11859120;11733001;11207248;11098931;10774747;9894849;9430221;9430220;9059894;8777725;8760804;8662091;8046332;7749980;17202323;15942906;17200871;7650366;20528243;20580654;20600442;20643584;20650299;20652381;20670355;20818412;20887224;18549610;19151793;19176033;19411600;19664392;19675166;19683555;19752231;19761533;19846535;19850842;19861144;19874556;19875891;19897003;19926642;19934297;19936734;19968064;20061407;20082482;20082646;20131260;20137308;20173792;20193031;20200544;20207982;20210918;20210919;20230527;20331834;20356536;20371502;20426625;20483367;20492596;20519398;19859704;20631304;20210921;20664023;20028428;20878400;20935224;20574122;21206914;21471235;21471246;21696085;19549379;21690332;22842045;22803950;21746965;21616111;21726204;22020283;21797986;21988832;22190034;23524032;23266622;23436464 3811 F6QF33;P43629;Q5UCE2;Q8N6C9 ABBA01068150;AC011501;AF022049;AF103010;AF103011;AF103012;AF103013;AF104856;AF105239;AF208688;AF208689;AF262968;AF262969;AF262970;AF262971;AF262972;AF262973;AF262974;AJ417556;AJ417557;AMYH01009976;AY366236;AY366249;AY366250;AY366251;AY366252;AY723746;AY760023;AY760024;AY760025;AY760026;AY760027;AY760028;AY760029;AY760030;AY760031;AY760034;AY760035;AY760036;AY760050;AY789065;AY789066;AY789072;BC028206;BC101540;BC101542;CH471135;CU151839;CU459006;CU464060;DQ178659;DQ371579;DQ371580;DQ371581;DQ371582;DQ371583;DQ371584;DQ371585;DQ371586;DQ371587;EF462885;EF472674;EF472675;EF472676;EF472677;EF472678;EF472679;FJ158650;GU182341;L41269;L76664;NG_005990;NG_021414;NM_013289;U30273;U30274;U31416;U33328;X94262;XM_003403406 AAA69870;AAB36592;AAB52521;AAB52522;AAB95322;AAC23725;AAC23726;AAC83927;AAC83928;AAC83929;AAC83930;AAF29520;AAF29521;AAF61291;AAF61292;AAH28206;AAI01541;AAI01543;AAK30055;AAK30056;AAK30057;AAK30058;AAK30059;AAK30060;AAK30061;AAR16194;AAR16207;AAR16208;AAR16209;AAR16210;AAU29054;AAV32436;AAV32437;AAV32438;AAV32439;AAV32440;AAV32441;AAV32442;AAV32443;AAV32444;AAV32447;AAV32448;AAV32449;AAX23110;AAX23111;AAX23117;AAX89521;ABA56493;ABD38578;ABM82005;ABM85187;ABR88120;ABR88121;ABR88122;ABR88123;ABR88124;ABR88125;ABS53052;ACJ37424;ADJ94535;CAA63938;CAD10380;CAD10381;EAW72284;EAW72285;EAW72286;NP_037421;P43629;XP_003403454 Hs.645228 1682868;1810030;1812936;2045952;2046134;2046184;2046226;2046246;2046268;2046488;2046490;2046492;2046494;2046496;2046498;2046500;2046502;2046504;2046506;2046508;2046510;2046512;2046514;2046516;2046518;2046520;2046522;2046524;2046526;2046528;2046530;2046532;2046534;2046536;2046538;2046540;2046542;2046544;2046546;2046548;2046550;2046552;2046554;2046556;2046558;2046560;2046562;2046564;2046566;2046568;2046570;2046572;2046574;2046576;2104262;2104300;2135328;2217522;5014283;5016436;5020724;5038184;5095822;5107975;5111062 ECD06007;ECD07482;KIR3DL1_3398;REN94057;REN94062;REN94122;REN94169;REN94195;REN94228;REN94240;REN94254;REN94364;REN94365;REN94366;REN94367;REN94368;REN94369;REN94370;REN94372;REN94373;REN94374;REN94375;REN94376;REN94377;REN94378;REN94379;REN94380;REN94381;REN94382;REN94383;REN94384;REN94385;REN94386;REN94387;REN94389;REN94390;REN94391;REN94392;REN94393;REN94394;REN94395;REN94396;REN94397;REN94398;REN94399;REN94400;REN94401;REN94402;REN94403;REN94404;REN94405;REN94406;REN94407;REN94408;REN94409;REN94410;RH18028;RH76307;RH79143;SHGC-35391;SHGC-35499;STS-U24075;STS-X97229;stSG606302;stSG606336 CD158E1;KIR;KIR3DL1/S1;MGC119726;MGC119728;MGC126589;MGC126591;NKAT3;NKB1;NKB1B CD158 antigen-like family member E;HLA-BW4-specific inhibitory NK cell receptor;KIR antigen 3DL1;MHC class I NK cell receptor;NK-receptor;NKAT-3;OTTHUMP00000068687;OTTHUMP00000068688;OTTHUMP00000081758;killer Ig receptor;killer cell immunoglobulin-like receptor 3DL1;killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1;natural killer-associated transcript 3;p70 NK receptor CL-2/CL-11;p70 killer cell inhibitory receptor;p70 natural killer cell receptor clones CL-2/CL-11 APPROVED protein-coding ENSG00000167633 6338 09226;10034 604946;609423 REVIEWED 1352733 KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] q13.4 1580863;7240710 17694054;17687550;17646980;17641029;17592337;17490516;17301953;17202323;17200871;17182560;16805919;16698433;16698429;16508981;15942906;15896204;15580659;12826375;12477932;12134147;11859120;11098931;9430221;9430220;9059894;8662091;19421224;19411600;19326408;19309280;19279038;19218127;19211742;19181658;19169284;19120281;19046302;19032228;19019897;19008943;19000141;18945962;18848853;18830515;18778326;18687225;18668235;18643961;18638658;18571006;18351333;18340360;18331531;18317000;18305035;18297378;18074414;18025129;17997746;17990989;17882223;17868255;22653583;22652695;20643584;20650299;20652381;20670355;20818412;20600442;20528243;20580654;19386717;19450876;19454667;19489269;19493232;19522772;19527230;19630074;19664392;19683555;19761533;19846535;19850842;19859704;19861144;19874556;19875891;19897003;19926642;19934297;19936734;19968064;20082482;20082646;20124216;20131260;20137308;20173784;20173792;20193031;20207982;20210918;20210919;20230527;20331834;20356536;20371502;20426625;20483367;20492596;20519398;20562327;20878400;21233146;21804024;21665278;21779711;23524032;23325834 3813 O43469;Q14943 AF022044;AJ417558;AK301140;AL133414;AY320039;AY760032;AY760055;AY760056;BC098107;BC098288;BC105679;DQ371588;DQ371589;DQ371590;DQ371591;DQ371592;DQ371593;DQ371594;DQ371595;EF370406;EF582383;EU156175;GU182339;GU182347;GU182352;GU182355;GU182359;HE613424;L76661;NG_005994;NM_001083539;U73396;X97232;X97233 AAB36589;AAB95317;AAC51148;AAH98107;AAH98288;AAI05680;AAV32445;AAX89526;AAX89527;ABD38579;ABU62835;ABX88986;ADJ94519;ADJ94585;ADJ94625;ADJ94649;ADJ94684;BAG62732;CAA65871;CAA65872;CAD10382;CCE67068;NP_001077008;Q14943 Hs.743496 1810030;1812936;1814194;1849467;2046184;2046228;2046488;2046490;2046492;2046494;2046496;2046498;2046500;2046502;2046504;2046506;2046508;2046510;2046512;2046514;2046516;2046518;2046528;2046530;2046532;2046534;2046536;2046538;2046540;2046542;2046546;2046548;2046550;2046552;2046554;2046556;2046558;2046562;2046564;2046566;2046568;2046570;2046572;2046574;2046576;2104298;2104302;2158971;2219166;5016436;5020724;5107975;5111062;5113128 ECD06007;ECD07482;ECD08126;KIR2DL3_2529;REN94195;REN94229;REN94364;REN94365;REN94366;REN94367;REN94368;REN94369;REN94370;REN94372;REN94373;REN94374;REN94375;REN94376;REN94377;REN94378;REN94379;REN94380;REN94385;REN94386;REN94387;REN94389;REN94390;REN94391;REN94392;REN94393;REN94395;REN94396;REN94397;REN94398;REN94399;REN94400;REN94401;REN94403;REN94404;REN94405;REN94406;REN94407;REN94408;REN94409;REN94410;RH18028;RH69059;RH76182;SHGC-35391;SHGC-35499;SHGC-35500;STS-U24075;stSG606335;stSG606337 CD158E2;KIR-123FM;KIR-G1;MGC119726;MGC119728;MGC125316;NKAT10 MHC class I NK cell receptor;NKAT-10;killer Ig receptor;killer cell immunoglobulin-like receptor 3DS1;killer cell immunoglobulin-like receptor KIR3DS1;killer cell immunoglobulin-like receptor three domains short cytoplasmic tail 1;natural killer-associated transcript 10 APPROVED protein-coding 6340 609423 REVIEWED 1602993 KIR3DX1 killer cell immunoglobulin-like receptor, three domains, X1 19 19 19 q13.42 52084442 52095734 + 59735820 59748862 + 55043909 55055195 + 6480464 16911775;14702039;11441184;12477932;20098747;20237496;21145461 90011 F2Z2P8;F8WDC3;Q9H7L2 ABBA01068151;ABBA01068152;AC009892;AC104536;AK024467;AMYH01009976;BC033195;BC171827;BC171832;BC171834;BC171838;BC171839;CH471135;CU024913;CU234142;DQ224421;NR_026716 ABB53378;BAB15757;EAW72255;EAW72256 Hs.288520 1801768;1806456;1807556;1808950;1809014;1809154;1811794;1822640;1827398;1827890;1829828;1842514;1843726;2044316;2044318;2044320;2044322;2044324;2044326;2044328;2044330;2044332;2044334;2044336;2044338;2044340;2044342;2044344;2044346;2044348;2044350;2044352;2044354;2044356;2044358;2044360;2044362;2044364;2044366;2044368;2044370;2044372;2044374;2044376;2044378;2044380;2044382;2044384;2044386;2044388;2044390;2044392;2044394;2044396;2044398;2044400;2044402;2044404;2044406;2044408;2044410;2044412;2044414;2044416;2044418;2044420;2044422;2044424;2044426;2044428;2044430;2044432;2104056;2104058;2104060;2104062;2104064;2104066;5014051;5021872;5022578 D1S1423;D8S2278;ECD01765;ECD04184;ECD04750;ECD05458;ECD05494;ECD05566;ECD06901;ECD12408;ECD14815;ECD15068;ECD16047;ECD22464;ECD23074;REN93211;REN93212;REN93213;REN93214;REN93215;REN93216;REN93217;REN93218;REN93219;REN93220;REN93221;REN93222;REN93223;REN93224;REN93225;REN93226;REN93227;REN93228;REN93229;REN93230;REN93231;REN93232;REN93233;REN93234;REN93235;REN93236;REN93237;REN93238;REN93239;REN93240;REN93241;REN93242;REN93243;REN93244;REN93245;REN93246;REN93247;REN93248;REN93249;REN93250;REN93251;REN93252;REN93253;REN93254;REN93255;REN93256;REN93257;REN93258;REN93259;REN93260;REN93261;REN93262;REN93263;REN93264;REN93265;REN93266;REN93267;REN93268;REN93269;sY3084;stSG606144;stSG606145;stSG606146;stSG606147;stSG606149;stSG606152 FLJ00060;KIR3DL0;LENG12 pseudo 25043 13328 VALIDATED 6481087 KIRREL3-AS2 KIRREL3 antisense RNA 2 11 126810642 126814986 + 12477932;18464913 100874251 ABBA01022998;AMYH01004114;AP002833;AW303325;BC031955;NR_046986 Hs.319053 APPROVED miscrna ENSG00000254960 42656 VALIDATED 1349040 KIRREL kin of IRRE like (Drosophila) NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008] 1 1 1 q21-q25 131034468 131136921 + 156229687 156332465 + 157963063 158065846 + 1580863;6480464 18562307;18922801;18258597;17968527;16968734;15489334;15144186;14702039;12865409;12660326;12646566;12578837;12477932;12424224;11416156;20507940;21402783;22262837;21139048;21890473;21706016;21963094;23000965;23251661;22053931;22505724 55243 B4DN67;Q5W0F9;Q5W0G0;Q96J84 ABBA01016633;ABBA01016634;AK001707;AK022708;AK090554;AK297788;AL139010;AMYH01001443;AY017369;AY302131;BC025268;BC051356;BC067097;BC082969;BC109192;BC109193;CH471121;NM_018240 AAH25268;AAH51356;AAH67097;AAH82969;AAI09193;AAI09194;AAK00529;AAP59845;BAA91850;BAB14192;BAC03476;BAG60129;EAW52852;EAW52853;EAW52854;EAW52855;NP_060710;Q96J84 Hs.609291;Hs.657006 1709310;2219854 KIRREL__6520;SHGC-81641 FLJ10845;MGC129542;MGC129543;NEPH1 OTTHUMP00000024054;OTTHUMP00000024055;OTTHUMP00000024056;kin of IRRE-like protein 1;kin of irregular chiasm-like protein 1;nephrin related;nephrin-like protein 1 APPROVED protein-coding ENSG00000183853 15734 06306 607428 VALIDATED 1318234 KIRREL2 kin of IRRE like 2 (Drosophila) 19 19 19 q13.12 33061989 33072232 + 41039650 41049888 + 36347810 36358048 + 6480464 12837264;16741999;15489334;15340161;12975309;12504092;12477932;11230166;8889548;21697133;19703278;20237496;19913121;20628086;21980157 84063 K7EJS8;Q9H0T1 AB593116;ABBA01018771;AC002133;AD000864;AK307865;AL136654;AMYH01009735;AX521478;AY305301;AY305302;AY358742;BC007312;BC064925;BU730182;NM_032123;NM_199179;NM_199180 AAH07312;AAH64925;AAP72166;AAP72167;AAQ89102;BAJ84056;CAB66589;CAD52967;NP_115499;NP_954648;NP_954649;Q6UWL6 Hs.145729 1734144 D19S610 DKFZP564A1164;FILTRIN;MGC15718;NEPH3;NLG1 kin of IRRE-like protein 2;kin of irregular chiasm-like 2;kin of irregular chiasm-like protein 2;nephrin-like 3;nephrin-like gene 1;nephrin-like protein 3 protein-coding ENSG00000126259 18816 08473 607762 VALIDATED 4143040 KIRREL3-AS3 KIRREL3 antisense RNA 3 11 11 11 q24.2 124040185 124041012 + 126378514 126379340 + 126872805 126875953 + 12477932;14702039;15489334;20237496 283165 Q14CW7;Q8N7Y1 ABBA01022998;AK097543;AMYH01004114;AP002833;BC113593;BC113597;CH471065;NR_040078 AAI13594;AAI13598;BAC05095;EAW67703;Q8N7Y1 Hs.730461 5493229 UniSTS:485411 FLJ40224;NCRNA00288;PRR10 APPROVED miscrna ENSG00000218109 26855 08274 VALIDATED 731975 KISS1R KISS1 receptor The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008] 19 19 p13.3 868358 872013 + 917342 921015 + 70752;1599279;704404;1599280;1580863;2292123;2292127;6480464;7240710 10100623;12944565;11994395;17914099;17164231 11387329;19506390;19489874;19453261;19331211;19286835;19201817;19112386;18977201;18772143;18682503;18583061;18463157;18005407;17334928;17700012;17023533;16731583;16322390;16309735;16034182;15598687;15596153;15519892;15057824;15020672;14977840;14573733;12898236;12788881;12477932;12414911;11527393;11457843;11414709;11385580;22526494;22619348;20374724;21193544;21285314;12879005;18395325;19846537;20237166;20734064;20371656;21282360;16754659;21169415;23070548;23015653;21912371;22132116;22210725;21996032;22193294;22424618;23277422;23349759;23525242 84634 K7EQ45;Q969F8 AA887801;AB051065;ABBA01002609;AC005379;AF343725;AJ309020;AMYH01009213;AY029541;AY253981;AY253982;BC140825;BC141812;CA432866;CH471139;CQ878955;CQ891716;EU883577;NG_008277;NM_032551 AAI40826;AAI41813;AAK33126;AAK83235;AAP82929;AAP82930;ACG60651;BAB55446;CAC40817;CAH60299;CAH68808;EAW69583;NP_115940;Q969F8 Hs.208229 1793122;1793124;1793126;1793128 PMC196911P1;PMC196911P2;PMC196911P3;PMC196911P4 AXOR12;CPPB1;GPR54;HH8;HOT7T175;KISS-1R G protein-coupled receptor 54;G-protein coupled receptor 54;G-protein coupled receptor OT7T175;hypogonadotropin-1;kiSS-1 receptor;kiSS-1R;kisspeptins receptor;metastin receptor APPROVED protein-coding ENSG00000116014 4510 09167 176400;604161;614837 REVIEWED 1322814 KIRREL3 kin of IRRE like 3 (Drosophila) The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 11 11 11 q24 123459514 124037646 - 125799613 126375701 - 126293396 126870766 - 6480464;7240710 12424224;19012874;18951430;18464913;15489334;14702039;12975309;12477932;11347906;8889548;20195266;20585627;20237496;20379614;22747683 84623 B4DT91;E9PRX9;Q8IZU9 AB058770;ABBA01022998;ABBA01031219;ABBA01031220;ABBA01031221;AF480410;AK092047;AK300108;AMYH01004113;AMYH01004114;AP000741;AP000806;AP001783;AP002832;AP002833;AY358743;AY358760;BC042432;BC065255;BC071838;BC101775;BC101801;BM671831;CH471065;NG_012971;NM_001161707;NM_032531;W75978 AAI01776;AAI01802;AAN73042;AAQ89103;AAQ89120;BAB47496;BAG61903;EAW67698;EAW67699;EAW67700;NP_001155179;NP_115920;Q8IZU9 Hs.376015 1649941;1664247;1668331;1684634;1684790;1710386;1714931;1721021;1721417;1731231;1731247;1732389;1736965;1737629;1737677;1737703;1738215;1752225;1756501;1757291;1760847;1762397;1769842;1787506;1851458;2113988;2127435;2135810;2140408;2163244;2163355;2180438;2181252;5015861;5015961;5092656;7185938 A005M34;AB062966;D10S16;D11S1119;D11S1863;D11S2562;D11S2594;D11S2675;D11S3229;D11S3281;D11S3302;D11S3857;D11S4013;D11S430;D11S477;D11S570;D15S1477;D4S3192;G31042;G32242;G59492;G59560;RH120460;RH16279;RH47697;RH91997;SHGC-106162;SHGC-143515;SHGC-144515;SHGC-144698;SHGC-146231;SHGC-155432;SHGC-31257;SHGC-34972;SHGC-82464;WI-12535 KIAA1867;KIRRE;MGC126824;MGC126850;MRD4;NEPH2;PRO4502 OTTHUMP00000231130;OTTHUMP00000231131;OTTHUMP00000231132;kin of IRRE-like protein 3;kin of irregular chiasm-like protein 3;nephrin-like 2;nephrin-like protein 2 APPROVED protein-coding ENSG00000149571 23204 09679 607761;612581 REVIEWED 1352127 KISS1 KiSS-1 metastasis-suppressor This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012] 1 1 q32 202426092 202432242 - 204159469 204165619 - 1580863;2292123;2292132;2289400;2292135;2302169;2302170;2292128;2292136;2298668;2292127;6480464 17914099;16757546;15592684;16320113;18005407;15949424;16952198;12547718;16283480;17164231 16710414;16650418;16260418;16146758;16034182;15598687;15596153;15500545;15498874;15489334;15300798;15219839;15144186;15020672;14977840;12944565;12898236;12879005;12650602;12574233;12477932;12414911;11994395;11606374;11527393;11457843;11385580;11060311;9806840;11387329;9192814;19212644;19201817;19141682;19112386;19109311;18682503;18644390;18583061;18437914;18434521;18351443;18317999;18211678;17695545;17609410;17488799;17334929;17323132;17023533;16964286;16731583;21847585;22209985;22395416;9185708;8944003;20534720;20631455;21928364;20951797;20699467;20734064;17520389;17562263;17659469;17959544;18252956;18395325;19154616;19286835;19533666;19536175;19582702;19645016;19895172;20022159;20066900;20237166;20303258;20379614;20392988;19898965;16754659;20529119;20362959;19575900;19955756;20446240;20139371;20833219;21832049;23011920;21169415;16174713;22193294;20727862;20800054;20816945;20858464;22556014;23015653;22343183;22473757;22770630;21738347;21383688;22132116;21295095;21672609;20213218;21544801;21880801;21827808;21347414;21683672;22335740;22681921;22526494;21804632;22768662;21831501;22320990;22320993;22424618;21996032;22210725;22168508;22349353;22471458;22553409;22367780;22672861;22230814;23145030;23132294;22899305;22769053;22959969;23152107 3814 Q15726 ABBA01027449;ABBA01027450;AF218017;AK291695;AL592114;AMYH01001661;AY117143;BC022819;CH471067;HC007062;NG_032151;NM_002256;U43527 AAC79512;AAG17259;AAH22819;AAM78592;ABM83725;ABM87045;BAF84384;CBH19336;EAW91506;EAW91507;NP_002247;Q15726 Hs.95008 1725641;1768233;1769636;2136614;2163171;2183961 G62032;RH35953;SHGC-33412;SHGC-76112;SHGC-76186;STS-T52659 HH13;KiSS-1;METASTIN;MGC39258 OTTHUMP00000034312;kisspeptin;kisspeptin-1;malignant melanoma metastasis-suppressor;metastasis-suppressor KiSS-1;metastin;prepro-kisspeptin APPROVED protein-coding ENSG00000170498 6341 04475 603286;614842 REVIEWED 732783 KL klotho This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008] 13 13 q12 32488571 32538279 + 33590571 33640282 + 1581727;1581721;1581730;1581732;1581723;1581599;1580863;6480464;6907045;7240710 15677572;16979405;15037532;10892340;16579981;16436388 22217880;9363890;11792841;17086194;12110410;9464267;19539617;19527514;19453261;19421891;19419323;19349416;19329831;19246844;19121771;19119257;19077115;19019915;19019335;18974842;18818748;18762812;18756295;18682507;18678710;18660672;18591743;18547997;18465812;18308935;18034366;17711860;17710231;17624411;17408468;17339340;17332731;17270470;17205327;17202338;17014852;16973281;16957409;16955217;16753056;16325773;16262891;16151675;15784727;15763166;15135068;15057823;14702039;12771308;12669274;12369777;11162628;11137391;11043382;10631108;22715479;22042362;21376714;21663735;19913121;20628086;20654748;21093413;20482749;10579907;10629055;14534538;18829467;19230844;19480830;19680556;19690404;19756714;19802015;19878569;19890272;19913601;20005218;20068287;20345435;20379614;20394945;20466664;20140262;20685863;20800603;20686451;21115613;20832068;20955350;19411745;21336305;21209102;21695423;22782974;21406293;21411554;21571866;21389697;21422754;21075474;21523445;23437382;22530731;21671493;21852584;21734097;21818545;22045427;21832856;21982773;22396167;22193235;23000105;21948763;22922788;23235154;21529984;21543107;21859400;22338084;22360923;21769735;22551879;21565945;22212556;22452701;22492635;22245317;23433103;23180879;23559584;23603386;22836100;23360820;22590958;22710352;23123137;22457086 9365 B3KUJ4;Q9UEF7 AA890465;AB005142;AB009667;ABBA01010153;ABBA01010154;AK097349;AL161898;AMYH01005024;CB988086;CH471075;FB571443;NG_011485;NM_004795;Z84483;Z92540 BAA23382;BAA24940;BAA24941;BAG53456;CAC94767;CAC94773;CAR95139;EAX08525;EAX08526;NP_004786;Q9UEF7 Hs.524953 1705400;1782810;1782960;2169140;2219866 G31530;KL__6522;SHGC-106169;SHGC-170589;SHGC-83563 OTTHUMP00000018796;klotho 1643403 BMD8_H APPROVED protein-coding ENSG00000133116 6344 05316 211900;604824 REVIEWED 731382 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q11-q12 55218852 55301638 + 55524095 55606881 + 1600050;1600047;1580863;1600045;1600046;2292419;2292425;2292422;2302173;2292423;2292424;2302172;2302175;2302174;2302176;2292414;2292426;2292421;2292170;2292181;2292430;5133424;6480464;6907045;7240710 12932303;9697690;1717985;9029028;15044924;17867595;15033665;18028988;14669790;17848740;18445266;17768701;18006222;15967102;15780567;16721362;15073597;17367465;10362788;15502806;1912576 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09338;21195420;21765473;21835435;21951831;22083669;22094233;22135725;21585622;21478825;21697888;21715005;21787767;21804459;21658742;22171430;21427092;21802916;22357254;22534474;22736149;20658618;21887372;21993766;22199321;22797058;23528260;22892471;23106360;23285214;23292839;22449154;22809251;22993368;21403518;21757432;21971089;21971708;22076173;22261446;21382095;21692598;22038222;22119814;22193299;22751451;22140461;22160160;22173128;22213031;22233760;22237707;22314183;22338050;22349512;1721869;20963938;21527588;22042971;22170730;22197035;22264755;22559980;22154054;22330882;22395498;17452978;22101339;22448662;22469616;22558483;22866542;22513068;22301675;22670177;9233773;22626674;23160462;23074272;22937135;23152053;22815156;23598963;22833529;21953054;23020152;23222517;22917541;22995373;23084635;22932406;23014346;23181448;23190889;22077630;22608575;22846208;23374274;22963430;23053179;22464346 3815 P10721;Q8TCG9 ABBA01003404;AC006552;AC092545;AJ438313;AK304031;AMYH01014188;BC071593;CH471057;CN414753;CS117948;CS479297;CS542496;DC376760;EU826594;GM868983;GU983671;HM015525;HM015526;HM030712;HM030713;HM437240;L04143;NG_007456;NM_000222;NM_001093772;S67773;S68472;U63834;X06182;X65959;X69301 AAB29301;AAB29529;AAC50968;AAC50969;AAH71593;ACF47630;ADF36702;ADF50068;ADF50069;ADF50070;ADF50071;ADN43071;BAG64945;CAA29548;CAA46771;CAA46772;CAA49159;CAD27356;CAJ15130;CAM35390;CAM91185;CAT16960;EAX05460;EAX05461;NP_000213;NP_001087241;P10721 Hs.479754 1645011;1657827;1668598;1669504;1741559;1743049;1744539;1745609;1745611;1745613;1856201;2174637 G15879;GDB:181531;GDB:250632;GDB:512789;GDB:626073;GDB:626077;GDB:626080;SHGC-12679;SHGC-50170;SHGC-67781;SHGC4-128;STS-N21003 C-Kit;CD117;PBT;SCFR OTTHUMP00000158901;OTTHUMP00000218587;mast/stem cell growth factor receptor;mast/stem cell growth factor receptor Kit;p145 c-kit;piebald trait protein;proto-oncogene c-Kit;proto-oncogene tyrosine-protein kinase Kit;soluble KIT variant 1;tyrosine-protein kinase Kit;v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein APPROVED protein-coding ENSG00000157404 6342 01287 154800;164920;172800;273300;601626;606764 REVIEWED 1604985 KLB klotho beta 4 4 p14 39084868 39126748 + 39408473 39453153 + 6480464;6484113 17627937;21396369;19059246;18829467;18259951;17711860;16358222;15489334;12477932;22271411;22318606;22439738;22523080;20717167;19117008;22248288;20800603;20657013;21653700;22442730;22020932;23383245 152831 B4DYH5;Q86Z14 AB079373;ABBA01004121;ABBA01004122;ABBA01004123;ABBA01004124;ABBA01004125;AC021148;AC023135;AK302436;AMYH01014118;AMYH01014119;BC033021;BC104871;BC113653;BC143575;BJ993426;CH471069;NM_175737 AAH33021;AAI04872;AAI13654;AAI43576;BAC56857;BAG63737;EAW92925;NP_783864;Q86Z14 Hs.90756 1701234;1851883;5015961;5024761;5037552 D15S1477;D8S2279;RH104245;RH36905;SHGC-67244 BKL;MGC142213 OTTHUMP00000158728;beta-klotho;betaKlotho;klotho beta like;klotho beta-like protein protein-coding ENSG00000134962 15527 14097 611135 VALIDATED 1319723 KLF1 Kruppel-like factor 1 (erythroid) This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009] 19 19 p13.2 12856236 12859017 - 12995236 12998017 - 1580863;6480464;7240710 8924208;9778250;19251649;19220418;19097174;18523154;22102705;18487511;14976188;12556498;12477932;12072445;11844803;11259590;11018012;9722526;9119377;7753194;18329016;18195733;16858401;16184297;15937668;15057824;20676097;20676099;21157349;20379614;11287616;15542849;20642331;20686118;21055716;21190291;19850899;21670263;21273267;21778342;21610079;21821711;22093801;22318606;22393050;23125034;23209159;22965552;23161389;23223429 10661 Q13351 ABBA01029763;AC020934;AD000092;AMYH01009497;BC033580;BC040000;CH471106;FJ200444;NG_013087;NM_006563;U37106;U65404 AAB51173;AAC50562;AAC51108;AAH33580;ACM18112;EAW84323;NP_006554;Q13351 Hs.37860 2157258 STS-H60702 EKLF;HBFQTL6;INLU Krueppel-like factor 1;erythroid Kruppel-like factor;erythroid krueppel-like transcription factor;erythroid-specific transcription factor EKLF;monoclonal antibody A3D8 APPROVED protein-coding ENSG00000105610 6345 07197 111150;600599;613566;613673 REVIEWED 737118 KITLG KIT ligand This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q22 87410697 87498369 - 88886570 88974250 - 1299516;1580863;6480464;7240710 2208279 20543847;10884405;9722506;10049787;19492092;19483682;19483681;19480722;19416273;19375057;19285034;19197368;19196101;19074504;19001805;18834862;18830255;18684968;18602222;18499891;18372228;18339685;18239612;18166170;18083106;18042633;18026739;17952075;17855052;17687495;17556598;17410437;17289809;17257055;17191042;17175329;17115933;16905672;16780589;16709604;16647379;16616334;16479403;16213778;16181409;16015044;15866728;15781331;15728521;15576295;15526978;15526160;15504551;15504546;15489334;15475566;15474101;15378028;15355893;15337769;15308671;15217825;15140230;14985355;14702039;14691917;14662725;14654075;14628073;12829027;12753403;12666065;12637332;12556557;12481031;12477932;12445210;12429808;12421569;12393703;12393403;12297464;12123753;12062186;12002675;11999217;11920266;11905054;11159541;11124255;15145934;10901444;10880433;10320642;10224464;9889281;9590652;9371281;9269751;9239726;9113989;8626683;7680037;7545103;7529021;7528592;1724381;1707188;1427906;1383693;1381905;1379846;1378327;1375232;20596251;20384797;20396801;17848411;17662946;19342032;19481739;19570824;19675587;19897599;19912360;20028869;20117079;20237496;20353940;17207965;20131076;21106245;19913121;20337985;20628086;20305142;21094786;21257825;21320746;20608808;20857409;21161069;21281800;22318606;23060556;22533504;18928604;21368769;21617256;23548203;21799876;22194441;21636540;21763396;21906983;23185384;22279057;22349512;22004924;22204707;22140272;22072546;22467521;22833529;21963094;23125456;23222517 4254 P21583;Q16493 ABBA01053424;AC024941;AF119835;AF400436;AF400437;AK025245;AK055903;AK290319;AK293002;AMYH01004646;BC069733;BC069783;BC069797;BC074725;BC126166;BC143899;BX474960;CH471054;CR749222;DC320486;M59964;NG_012098;NM_000899;NM_003994;S42571;S45995 AAA85450;AAB22846;AAB23573;AAD22048;AAH69733;AAH69783;AAH69797;AAH74725;AAI26167;AAI43900;AAK92485;AAK92486;ADQ31957;BAF83008;BAF85691;CAH18078;EAW97416;EAW97417;EAW97418;EAW97419;NP_000890;NP_003985;P21583 Hs.1048 1648330;2123689;2137597;2187351;5491386 D12S1453;K-F2_K-R2;MGF;RH11244;RH17708 DKFZp686F2250;FPH2;KL-1;Kitl;MGF;SCF;SF;SHEP7;kit-ligand OTTHUMP00000242388;OTTHUMP00000242389;OTTHUMP00000242390;c-Kit ligand;familial progressive hyperpigmentation 2;kit ligand;mast cell growth factor;steel factor;stem cell factor APPROVED protein-coding 6343 01698 145250;184745;611664 REVIEWED 1604744 KLC3 kinesin light chain 3 This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008] 19 19 19 q13 42649957 42660732 + 50535838 50546618 + 45843998 45854778 + 6480464 15489334;21145461;15464570;14702039;12594206;12477932;11319135;9624122;8786141;11969417;17353931;10491391;12427867;15324660;19913121;20628086;17979178;23108145;18784752 147700 K7EL76;K7ELP9;K7ENJ3;Q6P597 ABBA01040922;AK092481;AMYH01009850;BC025318;BC062998;BC073841;BC126418;BC133037;BF569806;CH471126;L47234;NM_177417 AAH62998;AAH73841;AAI26419;AAI33038;AAL48324;ADR83029;BAC03901;EAW57338;EAW57339;EAW57340;NP_803136;Q6P597 Hs.298079 1675547;1699316;1737315;5022322;5037552 D11S2560;D19S728;D8S2279;RH103245;RH80858 KLC2;KLC2L;KLCt;KNS2B KLC2-like;OTTHUMP00000184890;OTTHUMP00000233126;kinesin light chain 2;kinesin light chain 2-like;kinesin light chain 3 APPROVED protein-coding ENSG00000104892 20717 03212 601334 REVIEWED 1352040 KLC1 kinesin light chain 1 Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008] 14 14 q32.3 103165278 103237641 + 104095525 104167888 + 1580863;5684008;5683912;5683914;5683908;5684007;6480464 17999208;17917076;17977659;19911314;15364413 11106729;16169070;17353931;15778465;11238452;19046961;17825299;17653041;17611642;17081983;16964243;16344560;16084724;15489334;15342556;12839500;12800201;12477932;12475239;10806115;9450959;8945637;8786116;8274221;10491391;9624122;11144355;19913121;20601096;20628086;21385839;11907332;12594206;12893827;15324660;15905402;15987681;17332754;19717019;19773279;22863883;17893145;22939629;22272245;21139048;21900206;21906983;22470497;19861499 3831 F8W6L3;G3V2E7;G3V2P7;G3V3H3;G3V5R9;G5E9S8;H0YG16;H0YGB8;H0YJK1;H0YJL0;H0YJT3;H0YJU9;Q7RTQ2;Q86V78 AB451299;AB451431;ABBA01048412;ABBA01048413;ABBA01048414;ABBA01048415;ABBA01048416;ABBA01048417;AF267530;AF527736;AK294508;AL049840;AL133587;AL139300;AMYH01006049;AMYH01006050;AY180163;AY180164;AY180165;AY180166;AY180167;AY180168;AY180169;AY180170;AY244715;BC008881;BK000678;BK000679;BK000680;BK000681;BK000682;BK000683;BK000684;BK001163;BK001164;BK001165;BK001166;BK001167;BK001168;BK001169;BK001170;BK001171;BK001172;BM988840;BP274336;BP396130;BQ002171;CA433051;CB050619;CH471061;DA501532;L04733;NG_012307;NM_001130107;NM_005552;NM_182923;X69658 AAA16576;AAF72543;AAH08881;AAO62548;AAO62549;AAO62550;AAO62551;AAO62552;AAO62553;AAO62554;AAO62555;AAO64641;AAP85635;ABM84182;ABM87584;BAG57724;BAG70113;BAG70245;CAA49349;DAA01262;DAA01263;DAA01264;DAA01265;DAA01266;DAA01267;DAA01268;DAA01289;DAA01290;DAA01291;DAA01292;DAA01293;DAA01294;DAA01295;DAA01296;DAA01297;DAA01298;EAW81832;EAW81833;EAW81834;EAW81835;NP_001123579;NP_005543;NP_891553;Q07866 Hs.20107;Hs.657678 1645624;1658364;1688000;1797048;1849516;1854877;2117684;2139144;2143875;2191133 Cda1ee10;G35384;G35497;G35890;MARC_15241-15242:1012926496:1;RH45519;RH93079;SHGC-31709;WI-11561;XRCC3_1114 KLC;KNS2;KNS2A;MGC15245 KLC 1;OTTHUMP00000240450;OTTHUMP00000240451;OTTHUMP00000240452;OTTHUMP00000240453;OTTHUMP00000240454;OTTHUMP00000240457;OTTHUMP00000246739;OTTHUMP00000246740;OTTHUMP00000246741;OTTHUMP00000246742;OTTHUMP00000246743;OTTHUMP00000246744;OTTHUMP00000246745;OTTHUMP00000246746;OTTHUMP00000246747;kinesin 2 60/70kDa;kinesin light chain 1;medulloblastoma antigen MU-MB-2.50 APPROVED protein-coding ENSG00000126214 6387 02489 600025 REVIEWED 1343776 KLF14 Kruppel-like factor 14 This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013] 7 7 7 q32.3 125165236 125166729 - 130068018 130069400 - 130417396 130418888 - 1580863;6480464 19088080;17480121;15820306;12690205;19578363;19936222;20581827;20889853;21572415;20686565;21906983;23630301;21171965;23317878 136259 A4D1N0;Q8TD94 AA455939;AACC02000027;ABBA01057579;AC009274;AC234644;AF490374;AMYH01017939;CH236950;CH471070;DQ534756;DQ534757;NG_016152;NM_138693 AAI60035;AAM08349;ABF82392;ABF82393;EAL24083;EAW83773;NP_619638;Q8TD94 Hs.125240 1847465;2219856;5492837 D7S2937;KLF14__6524;UniSTS:482988 BTEB5 BTE-binding protein 5;Krueppel-like factor 14;OTTHUMP00000207100;basic transcription element-binding protein 5;transcription factor BTEB5 APPROVED protein-coding ENSG00000174595 23025 13919 609393 REVIEWED 1315239 KLC4 kinesin light chain 4 6 6 6 p21.1 44579615 44595077 + 43135350 43150811 + 43027372 43042833 + 6480464 17353931;16964243;16713569;15489334;15324660;14702039;14574404;12477932;8889548;20818331;17643375;21832049;22939629;22863883;19953087 89953 B4DME9;C9J8T5;C9JQU1;C9JXT5;C9JZE5;C9K0D5;F8WCA4;H7C4M1;Q9NSK0 ABBA01050696;AK055293;AK056393;AK094102;AK127018;AK127894;AK297433;AL162078;AL355385;AMYH01016311;BC012357;BC080637;BC103727;BQ688778;BX640717;CA450484;CH471081;NM_138343;NM_201521;NM_201522;NM_201523 AAH12357;AAH80637;AAI03728;ABM83157;ABM86358;ACE86600;ACE87281;BAC86788;BAC87179;BAG51496;BAG51695;BAG52815;BAG59861;CAB82411;CAE45836;EAX04146;EAX04147;EAX04148;EAX04149;NP_612352;NP_958929;NP_958930;NP_958931;Q9NSK0 Hs.655123 1699636;2172404 RH103422;STS-R52053 KNSL8;MGC111777;bA387M24.3 KLC 4;OTTHUMP00000016420;OTTHUMP00000216970;OTTHUMP00000216971;OTTHUMP00000216972;OTTHUMP00000216973;OTTHUMP00000216974;OTTHUMP00000217001;kinesin light chain 4;kinesin-like 8;kinesin-like protein 8 protein-coding ENSG00000137171 21624 13932 VALIDATED 1314308 KLF16 Kruppel-like factor 16 19 19 19 p13.3 1786480 1797646 - 1803398 1814564 - 1852398 1863564 - 1580863;6480464 17688680;17480121;15937668;12036432;11438660;11390978;22939629;22203677 83855 Q9BXK1 ABBA01002689;ABBA01002690;ABBA01002691;AC012615;AF327440;AK025941;AMYH01009266;AMYH01009267;BE243730;BQ447922;BU594659;CH471139;CR985546;CV809534;NM_031918 AAI48408;AAI48794;AAK15698;EAW69448;EAW69449;NP_114124;Q9BXK1 Hs.136280 1697284 RH102139 BTEB4;DRRF;NSLP2 BTE-binding protein 4;Krueppel-like factor 16;basic transcription element binding protein 4;basic transcription element-binding protein 4;dopamine receptor regulating factor;novel Sp1-like zinc finger transcription factor 2;transcription factor BTEB4;transcription factor NSLP2 protein-coding ENSG00000129911 16857 12090 606139 VALIDATED 1603973 KLC2 kinesin light chain 2 Kinesin is a molecular motor that generates ATP-dependent movement of vesicles and organelles along microtubules. Kinesin consists of 2 light chains, such as KLC2, and 2 heavy chains (see KIF5B; MIM 602809) in a 1:1 stoichiometric ratio (Rahman et al., 1998 [PubMed 9624122]).[supplied by OMIM, Mar 2008] 11 11 q13.2 65781824 65791907 + 66024765 66035332 + 6480464 17353931;11256614;17081983;16964243;16713569;16381901;16344560;15489336;15489334;15342556;15324660;15302935;15146197;14702039;11230166;11106729;11076863;9624122;15778465;15297625;12477932;10491391;14985359;16169070;17332754;19773350;22863883;21832049;22939629;19765186;21900206;21890473;21926972;22470497;22797925 64837 A8MX29;A8MZ87;C9JHT2;E9PI24;E9PM83;E9PP09;E9PQ02;Q9H0B6 ABBA01024088;AK022449;AK022907;AK094593;AK126489;AK315725;AL136864;AMYH01003729;AP000759;AP001107;BC034373;BE882786;BP214296;CH471076;CN310361;DA198727;DA291004;DA773222;DB136312;NM_001134774;NM_001134775;NM_001134776;NM_022822 AAH34373;ABM82064;ABM85243;BAB14039;BAB14302;BAG38081;BAG52895;CAB66798;CAL38468;EAW74507;NP_001128246;NP_001128247;NP_001128248;NP_073733;Q9H0B6 Hs.280792 1683579 RH93160 FLJ12387 KLC 2;OTTHUMP00000165216;OTTHUMP00000165218;OTTHUMP00000165219;OTTHUMP00000165220;kinesin light chain 2 APPROVED protein-coding ENSG00000174996 20716 13917 611729 VALIDATED 5131804 KLF17P1 Kruppel-like factor 17 pseudogene 1 12 12 12 q14.1 62295866 62297925 - 60913123 60915234 - 62628171 62629296 - 100133321 ABBA01026638;AC078789;AMYH01004537;NG_028765 pseudo 41521 INFERRED 1348365 KLF10 Kruppel-like factor 10 This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 8 8 q22.2 103730188 103737128 - 103661005 103667983 - 6480464 17931948;10976766;9748269;10816551;8532536;19453261;19240061;18798273;18483178;18359287;17659279;17377371;16964243;15489334;15218362;15087465;12804117;12477932;12173049;12072443;12065093;9721211;9443078;9153278;8584037;11438660;20628624;20087894;20201926;17207965;20863814;20691807;20934684;21262377;21559363;21906983;21963094;21471442;21900206;22025675;22234868;18278048;22688058;15231748;22094256;10573529;10861837;12788480;15570219;16344560;17689119;18930345;20385766;20953893;21524276;22349513;22563190;23134681;23232713;9492071;9622090;23569208;23057549 7071 Q13118 ABBA01037620;ABBA01037621;AF050110;AK312894;AMYH01018937;AMYH01018938;AP002851;BC011538;BC095399;BI560615;BQ575313;BT006634;CH471060;DA720479;DA756360;HF546210;HF546211;NG_033271;NM_001032282;NM_005655;NR_103759;NR_103760;S81439;U21847;X75691 AAB36088;AAC34293;AAC34294;AAC50340;AAH11538;AAH95399;AAP35280;ACE86839;ACE87526;ADQ32775;BAG35741;CCO02796;CCO02797;EAW91850;NP_001027453;NP_005646;Q13118 Hs.435001 1856975;2106727;2142980 A006S39;SGC30492;TIEG__5259 EGR-alpha;EGRA;TIEG;TIEG1 EGR-alpha;Krueppel-like factor 10;OTTHUMP00000227341;OTTHUMP00000227342;TGFB inducible early growth response;TGFB-inducible early growth response protein 1;TIEG-1;early growth response-alpha;transforming growth factor-beta-inducible early growth response protein 1;zinc finger transcription factor TIEG protein-coding ENSG00000155090 11810 03527 601878 REVIEWED 1605424 KLF11 Kruppel-like factor 11 The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 2 2 p25 10101133 10112414 + 10183682 10194963 + 2311540;2311539;6480464;7240710 15774581;18505768 9748269;19124506;19122346;18593768;18199129;17479246;17252542;17130512;17114344;16713569;15531587;15489334;15300592;15024015;14702039;12477932;12006497;11827452;11438660;11087666;10207080;22628545;20709022;17308981;19843526;20002157;20124487;20154088;22801105;23042817;19322201;21906983;21592955;22318730;22375010;21988832;22930747 8462 B5MCC4;B7ZAX4;C9JM94;E7EX78;O14901;Q53QU8 ABBA01015601;AC104794;AF028008;AF272830;AI183650;AI755210;AJ275989;AK002186;AK289816;AK302880;AK315345;AK316439;AMYH01010099;BC063286;BC069383;BC074922;BG701929;BM548792;BQ881155;CB990375;CH471053;CQ855663;CQ868162;NG_017199;NM_001177716;NM_001177718;NM_003597 AAC61880;AAF75793;AAH63286;AAH69383;AAH74922;AAX93098;BAF82505;BAG37743;BAG64059;BAH14810;CAC06699;CAH23425;CAH33945;EAX00972;NP_001171187;NP_001171189;NP_003588;O14901 Hs.12229 1660295;1670603;1771162;1772196;1856851;1856853;2108569 A005P43;G20404;RH11597;RH78629;SHGC-33613;SHGC-36737;TIEG2_8811 FKLF;FKLF1;MODY7;TIEG2;Tieg3 Krueppel-like factor 11;OTTHUMP00000147532;TGFB-inducible early growth response protein 2;TIEG-2;transforming growth factor-beta-inducible early growth response protein 2 APPROVED protein-coding ENSG00000172059 11811 04488 603301;610508 REVIEWED 5131808 KLF3P1 Kruppel-like factor 3 (basic) pseudogene 1 5 5 5 q35.1 167713157 167715117 - 171613389 171615349 - 171680784 171682744 - 651815 ABBA01044050;AC024561;AMYH01015811;NG_006658 1854783 A008U21 pseudo 41518 INFERRED 5131806 KLF3P2 Kruppel-like factor 3 (basic) pseudogene 2 3 3 3 q 155118180 155119422 + 158177361 158178603 + 156694667 156695909 + 100124394 ABBA01058836;AC092993;AC117392;AMYH01013600;NG_006657 pseudo 41519 INFERRED 1319416 KLF12 Kruppel-like factor 12 Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 q22 73158150 73606067 - 74260149 74708066 - 1580863;6480464 10704285;16615998;19240061;18668548;16344560;16189514;15937668;15489334;15057823;14702039;12477932;11935316;11406275;11373277;11042152;9858544;19588488;19907058;20049410;20101243;20379614;21076409;21822266;21832049;21658422;23458459;22150086;22359512;22318606 11278 Q8WWI3;Q9Y4X4 ABBA01050348;ABBA01050349;ABBA01050350;ABBA01050351;ABBA01050352;ABBA01050353;ABBA01050354;ABBA01050355;AF113122;AF161471;AF312872;AF330041;AI949908;AJ243274;AK094419;AK096503;AK126412;AK291397;AL138713;AL139036;AL158054;AL159972;AL160032;AL356319;AMYH01005206;AMYH01005207;AMYH01005208;BC019680;BF515580;CH471093;CQ834616;DB125574;NM_007249 AAF14863;AAF29086;AAH19680;AAK12082;AAL37478;ABM82699;ABM85883;BAF84086;CAB46982;CAH05523;EAW80528;EAW80529;NP_009180;Q9Y4X4 Hs.373857;Hs.729350 1341041;1341348;1647155;1655669;1661092;1681590;1690262;1699430;1722209;1738431;1754465;1764173;1766633;1777620;1780314;1780316;1780320;1780332;1780382;1780384;1780398;1796228;2111386;2134045;2142643;2150858;2158672;2175882;2182411;2183206;2189787;2189853;2189863;2189867;2189871;2189873;2189879;5017763;7186249;7186534 123m6REV;308d14REV;343d16FWD;374l18REV;413n5FWD;413n5REV;511g14FWD;D13S156;D13S166;D13S681E;D13S821E;D13S856E;G17687;G60008;G67098;G67103;G67104;G67105;G67106;G67107;G67148;KLF12;KLF12_1562;RH103306;RH15688;RH45042;RH45263;RH45383;RH93662;RH98942;SHGC-132738;SHGC-147813;SHGC-149929;SHGC-4027;SHGC-9129;STS-AA009838;WI-13803;WI-17043 AP-2rep;AP2REP;HSPC122 AP-2 repressor;AP-2rep transcription factor;KLF12 zinc finger transcriptional repressor;Krueppel-like factor 12;OTTHUMP00000018503;transcriptional repressor AP-2rep APPROVED protein-coding ENSG00000118922 6346 06336 607531 VALIDATED 1344641 KLF13 Kruppel-like factor 13 KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008] 15 15 q12 29406375 29457394 + 31619083 31670102 + 1580863;6480464 10023774;17513757;18056793;17074812;16023392;15937668;15716005;15489334;12477932;12093895;12050170;12036432;11748222;11477107;11087666;10828046;10415854;11438660;20410205;20539070;20518834;12758070;16303770;20211142;21906983;19531213;22318606;22797700;22505724 51621 H0YK05;H0YKM8;Q9Y2Y9 ABBA01038331;ABBA01038332;AC012236;AC104759;AF132599;AF150628;AL390127;AMYH01006503;BC010438;BC012741;BC012782;BC013946;BC035503;BC064552;BF797908;BM477172;CH471216;NM_015995 AAD26864;AAD34020;AAH10438;AAH12741;AAH13946;EAW61265;NP_057079;Q9Y2Y9 Hs.525752 1675549;1718681;1788934 RH123031;RH80027;UniSTS:224624 BTEB3;FKLF2;NSLP1;RFLAT-1;RFLAT1 BTE-binding protein 3;Krueppel-like factor 13;OTTHUMP00000159587;RANTES factor of late activated T lymphocytes-1;RANTES factor of late activated T-lymphocytes 1;Sp1 like zinc finger transcription factor;basic transcription element binding protein 3;basic transcription element-binding protein 3;novel Sp1-like zinc finger transcription factor 1;transcription factor BTEB3;transcription factor NSLP1 APPROVED protein-coding ENSG00000169926 13672 05620 605328 VALIDATED 737261 KLF15 Kruppel-like factor 15 3 3 q21.3 127544168 127558926 - 126061478 126076236 - 1580863;6480464 17688680;17438289;15963234;15937668;15489334;12477932;11473619;10982849;22405069;18586263;19366843;20141633;20956975;20375365;20709022;19767294;21503941;18029348;21257922;22493257;21937448;22493483;21988832;23378610 28999 Q9UIH9 AB029254;ABBA01016394;AC063919;AMYH01013449;AMYH01013450;BC036733;BX649049;CH471052;NM_014079 AAH36733;ABM81837;ABM84988;BAA88561;EAW79367;NP_054798;Q9UIH9 Hs.272215 1796230 KLF15_1463 DKFZp779M1320;KKLF Krueppel-like factor 15;OTTHUMP00000222546;kidney-enriched Kruppel-like factor;kidney-enriched krueppel-like factor protein-coding ENSG00000163884 14536 07568 606465 VALIDATED 1351701 KLF2 Kruppel-like factor 2 (lung) Kruppel-like factors (KLFs) are a family of broadly expressed zinc finger transcription factors. KLF2 regulates T-cell trafficking by promoting expression of the lipid-binding receptor S1P1 (S1PR1; MIM 601974) and the selectin CD62L (SELL; MIM 153240) (summary by Weinreich et al., 2009 [PubMed 19592277]).[supplied by OMIM, Feb 2011] 19 19 p13.11 16296651 16299345 + 16435651 16438345 + 1580863;6480464 21470678;19047056;18814951;18467642;18362151;18218994;18192240;17927807;17688680;17244683;16988269;16617118;16571724;16542423;16466697;16455954;16341264;16116194;16043642;16023392;15980434;15947087;15937668;15878865;15834135;15735666;15718498;15607822;15136591;12477932;12426306;12176889;11750135;11375995;10458913;10217429;8125298;7565748;19491109;19495417;19671192;19696221;19786564;19957349;19968965;20032497;20042720;23002242;23507969;20693579;20651277;15003522;20947822;19592277;20525885;21160050;21187410;21382345;21167486;22988032;21768538;22143796;21610079;22267843;22327366;19322201;22267480;22683691;22942434 10365 K7EJ60;Q8IUN4;Q9Y5W3 ABBA01051144;AC020917;AF123344;AF134053;AF205849;AK225820;AMYH01009562;BC035342;BC071983;BQ581981;CA950627;CH471106;HI179182;HI574216;NM_016270 AAD25076;AAD55891;AAF13295;AAH35342;AAH71983;CBX47597;CBX53899;EAW84541;NP_057354;Q9Y5W3 Hs.744182 1685676;2123102;2135311;5095008 KLF2;RH41932;RH98967;SHGC-57513 LKLF Krueppel-like factor 2;Kruppel-like factor LKLF;lung Kruppel-like zinc finger transcription factor;lung krueppel-like factor APPROVED protein-coding ENSG00000127528 6347 03602 602016 VALIDATED 6481101 KLF7-IT1 KLF7 intronic transcript 1 (non-protein coding) 100874272 AC008062 miscrna 41355 2303693 KLF7P1 kruppel-like factor 7 pseudogene 1 3 3 3 q26.2 169070548 169112570 - 172153342 172195365 - 170670648 170712671 - 100128036 ABBA01058669;AC061708;AMYH01013646;NG_009752 1644887;1721469;1769247;2126626;2159224;2178799 G59588;RH68967;SHGC-77535;SHGC-77538;UniSTS:31408;WIAF-2194 KLF7P APPROVED pseudo 17207 INFERRED 1344784 KLF17 Kruppel-like factor 17 1 1 1 p34.1 42868030 42884304 + 44357109 44373399 + 44584522 44600812 + 6480464 16710414;16460907;16344560;15489334;14702039;12477932;12351194;19951400;19801974;22240024;23325444 128209 Q5JT82 ABBA01050931;AK097479;AK308458;AL356653;AL359839;AMYH01000566;BC035408;BC049844;CH471059;DB046781;HC044657;NM_173484 AAH49844;BAC05070;CBH30658;EAX07052;EAX07053;NP_775755;Q5JT82 Hs.567674 1745973;5019046 G43535;RH124565 FLJ40160;RP4-675G8.1;ZNF393;Zfp393 Krueppel-like factor 17;OTTHUMP00000011242;novel zinc-finger protein;zinc finger protein 393 protein-coding ENSG00000171872 18830 08272 609602 VALIDATED 5131805 KLF8P1 Kruppel-like factor 8 pseudogene 1 16 16 16 q12.1 33264533 33279016 + 47309495 47310555 + 48751836 48766310 + 100128777 ABBA01000903;AC023827;AMYH01007650;NG_011843 pseudo 41520 INFERRED 1343244 KLF3 Kruppel-like factor 3 (basic) 4 4 4 p14 39107001 39144340 + 38342185 38379524 + 38665790 38703129 + 1580863;6480464 21470678;7750094;10582345;18391014;17081983;16344560;15937668;15684403;15489334;12812068;12477932;9724649;8889548;19913121;20628086;17207965;12556451;20379614;21360637;22003205;21693764 51274 P57682 AB024523;ABBA01074329;AC021860;AF285837;AK313459;AMYH01014115;AMYH01014116;BC030662;BC051687;BU689914;CH471069;DB246277;NM_016531;S77393 AAH30662;AAH51687;AAK27329;ADQ31936;BAA92271;BAG36246;EAW92895;EAW92896;NP_057615;P57682 Hs.298658 1735422;2128402;2139356;2143901;2149718;2151285;2169617;2217526 D4S2599E;KLF3_1583;RH36206;SGC31793;SHGC-59602;SHGC-67230;SHGC-67372;SHGC-67940 BKLF;MGC48279 CACCC-box-binding protein BKLF;Krueppel-like factor 3;OTTHUMP00000123486;TEF-2;basic Kruppel-like factor;basic krueppel-like factor;basic kruppel like factor;transcript ch138 protein-coding ENSG00000109787 16516 13920 609392 VALIDATED 1345927 KLF5 Kruppel-like factor 5 (intestinal) This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. Since the protein localizes to the nucleus and binds the epidermal growth factor response element, it is thought to be a transcription factor. [provided by RefSeq, Jul 2008] 13 13 q22.1 72531143 72549677 + 73633142 73651676 + 1581748;1304323;1304288;1581746;1580863;1581749;6480464 11120052;15098654;14726538;10417400;14557694 22452784;21470678;8479902;19056724;18782761;18774944;18660489;18617520;18226501;18054006;18039846;17688680;17603560;17508399;17430902;21674249;21951574;17320083;17178721;16638850;16595680;16500892;16341264;16223724;16102754;16102021;16054042;16023392;15937668;15740636;15735697;15668237;15581624;15489334;15077182;14612398;14587307;14573617;12901861;12682370;12661032;12576331;12477932;12242654;12113473;12101409;12087155;11152667;11076828;10572182;9973612;9089417;19411256;19419955;19448973;19460858;19569049;19668233;19671674;19684017;20086047;20101243;20484041;20388706;20639455;21487105;21566082;23112162;21383775;21732124;21542805;22939629;18029348;21868761;21953463;22045023;20694673;21993314;22632819;21906983;19322201;22094285;22120375;22584587;22990386;18729074;22632162;23372710 688 A2TJX0;Q13887;Q5T6X2 AB030824;ABBA01050341;AF132818;AF184924;AF287272;AK131397;AK296900;AK302280;AK304284;AL354720;AMYH01005201;AMYH01005202;BC007695;BC014302;BC042131;BT006641;CH471093;D14520;EF208215;NM_001730 AAF18307;AAF88068;AAG23126;AAH07695;AAH42131;AAP35287;ABM84666;ABM92198;ABM97548;BAA03393;BAA96461;BAG59458;BAG63623;BAG65143;EAW80524;EAW80525;EAW80526;NP_001721;Q13887 Hs.508234 1780340;1797796;2189777;2189829;2189875;5094985;5111606 116d19FWD;257f24FWD;42o17FWD;G67088;KLF5;KLF5_2413;RH91880 BTEB2;CKLF;IKLF BTE-binding protein 2;GC box binding protein 2;GC-box-binding protein 2;Krueppel-like factor 5;OTTHUMP00000018502;basic transcription element binding protein 2;basic transcription element-binding protein 2;colon krueppel-like factor;colon kruppel-like factor;intestinal-enriched krueppel-like factor;intestinal-enriched kruppel-like factor;transcription factor BTEB2 APPROVED protein-coding ENSG00000102554 6349 04212 602903 REVIEWED 1342656 KLF4 Kruppel-like factor 4 (gut) 9 9 q31 109286956 109291576 - 110247133 110252047 - 1580863;6480464 9422764;8940147;8702718;18029348;19549847;19409607;19361279;19327128;19074836;18977346;18390749;18376139;18264726;18157115;18056793;17932114;17908689;17762869;17688680;17671182;17614846;17508399;17339326;17135299;17017123;17016435;16632465;16507986;16372018;15937668;15806166;15805274;15740636;15674344;15561714;15489334;15102675;15051827;15031282;14724568;14702039;14670968;14627709;12919939;12901861;12853980;12776194;12581631;12477932;12439907;12427745;12297499;12087155;11521200;10749849;10666450;10556311;10431239;10392904;9651398;9443972;9428642;9218496;8889548;18655026;10802067;12034813;22170594;22491752;17827213;21177849;20385121;20519630;21075859;19486889;20718868;20727893;21159640;19197145;20551324;20629177;18768922;19458492;19495417;19503094;19505997;19522013;19541842;19544095;19696409;19717984;19737957;19763260;19779097;19816951;19858207;19968965;20043075;20071344;20072650;20075075;20356845;21832049;22539002;23097599;20699379;20215880;21263130;20972454;20479568;21224073;21166929;20442780;20849362;21219537;21502426;21132436;21125297;21242971;21252119;21652709;20030945;21518959;21539536;21586797;21746878;21673106;23007394;23348505;21312053;21412023;21689550;20711222;21670502;21531817;20305087;22653776;21833590;22170051;22267480;22282354;22364861;22430140;22389506;23275339;23384942;21674249;22407433;22209344;22384261;23160196;23515309;22835519;22937066;19751731;20467438;23089465;23118962;23376074;22854048;23023329;23440423;23202735;22284679;22766303;22677193;22842522 9314 B7ZBT1;B7ZBT2;Q5T3J6;Q8N717 ABBA01042788;AF022184;AF105036;AK095134;AK095894;AK313489;AL359552;AL360218;AMYH01021615;AMYH01021616;BC029923;BC030811;BU739190;CH471105;DN995850;DQ658241;HM026463;NM_004235;U70663 AAB48399;AAC03462;AAD42165;AAH29923;AAH30811;ABG25917;ABM82719;ABM85901;ADL14248;BAG36271;BAG52991;EAW59019;EAW59020;EAW59021;NP_004226;O43474 Hs.376206 1796232;5492141 KLF4_905;Klf4 EZF;GKLF Krueppel-like factor 4;OTTHUMP00000021862;endothelial Kruppel-like zinc finger protein;epithelial zinc finger protein EZF;gut-enriched krueppel-like factor protein-coding ENSG00000136826 6348 602253 VALIDATED 1314410 KLF7 Kruppel-like factor 7 (ubiquitous) The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 2 2 2 q32 201706987 201792085 - 207653774 207738859 - 207938861 208031970 - 1580863;6480464 9774444;19147600;16339272;15937668;14729953;14702039;14644156;12477932;17549794;21832049;14986829;15342556;15570219;15800012;16344560;17351670;17553693 8609 C9JX20;E7EQY2;E7EUU0;E9PHC9;O75840 AB015132;ABBA01062673;ABBA01062674;ABBA01062675;ABBA01062676;AC007879;AC008062;AK027371;AK297312;AK314439;AL042506;AMYH01011445;BC012919;BP229510;BX537890;CH471063;CR542112;DA023826;DA800775;DC370575;NM_001270942;NM_001270943;NM_001270944;NM_003709;NR_073108 AAH12919;AAX88867;AAY15081;BAA33521;BAG37050;BAG51308;BAH12543;CAD97885;CAG46909;EAW70400;EAW70401;EAW70402;EAW70403;NP_001257871;NP_001257872;NP_001257873;NP_003700;O75840 Hs.471221;Hs.59908 1662173;1681945;1699116;1752465;1774759;2114268;2175517 RH103134;RH15615;RH18337;RH78593;SHGC-106368;SHGC-52791;WI-13455 UKLF Krueppel-like factor 7;OTTHUMP00000163863;OTTHUMP00000206511;OTTHUMP00000206512;OTTHUMP00000206517;ubiquitous Kruppel-like transcription factor;ubiquitous krueppel-like factor APPROVED protein-coding ENSG00000118263 6350 07279 604865 REVIEWED 1348117 KLF8 Kruppel-like factor 8 This gene encodes a protein which is a member of the Sp/KLF family of transcription factors. Members of this family contain a C-terminal DNA-binding domain with three Kruppel-like zinc fingers. The encoded protein is thought to play an important role in the regulation of epithelial to mesenchymal transition, a process which occurs normally during development but also during metastasis. A pseudogene has been identified on chromosome 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] X X p11.21 56275632 56328255 + 56258822 56314322 + 1580863;6480464 18353772;17671186;17224162;16832343;16023392;15937668;15772651;15489334;12820964;12477932;11836360;10756197;12556451;20182889;21832049;22766838;20728449;21151179;23105099;21518760;20107328;22761862;22276196;20467438;23134681;23504025;22505724 11279 Q05BZ3;Q5JXP7 AB209004;ABBA01069447;ABBA01069448;ABBA01069449;ABBA01069450;AK296156;AL050309;AMYH01022450;BC031355;BC063276;BC105130;BC112109;BX098438;BX322609;BX641066;CH471154;HF546207;NG_011949;NM_001159296;NM_007250 AAH31355;AAI05131;AAI12110;ABZ92303;BAD92241;BAG58895;CAE46033;CCO02793;EAW93230;EAW93231;EAW93232;NP_001152768;NP_009181;O95600 Hs.646614 1656509;1662160;1671987;1695256;1695612;2141251;5015741;5109549;7184470;7184632;7188003 D20S994;D21S1698;DXS741;NIB723;SHGC-62967;SHGC-68451;STS-H42415;WI-18614 BKLF3;DKFZp686O08126;MGC138314;ZNF741 Krueppel-like factor 8;OTTHUMP00000023405;basic krueppel-like factor 3;basic kruppel-like factor 3;zinc finger protein 741 APPROVED protein-coding ENSG00000102349 6351 02238 300286 REVIEWED 1349381 KLF6 Kruppel-like factor 6 This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009] 10 10 p15 3811234 3817455 - 3818188 3827473 - 6480464;7240710 9083102;9689109;9000136;19435908;19101139;19097929;19020536;18755691;18753303;18719336;18691883;18596922;18521079;18515091;18471523;18250346;18190240;18174288;18053161;17893646;17663506;17621627;17514651;17347668;17347589;17223258;17143513;17125911;17113081;17071613;16988269;16972326;16872311;16856969;16778100;16702959;16598737;16500425;16431954;16189514;16054710;16044160;15937668;21470678;15917248;15824733;15735005;15489334;15486921;15378003;15342556;15247715;15164054;15131018;15067324;15064720;15057748;12794452;12740910;12651626;12651597;12590140;12508640;12477932;12433697;11752579;10802067;9685731;9503030;8889548;16169070;15172998;20660366;16385451;19328586;19333010;19808645;20014424;20116377;20126619;20237496;20453000;21056892;18822210;20801538;17207965;20545576;19967571;20714872;21832049;22535637;20844588;21282102;21309496;21443094;17636026;21109018;22782870;23048070;21154818;21849067;22581522;21799854;21906983;22169644;21928351;22277651;22711891;22653055;22095588;21538018;23508266;23322324;21940380;22855058;23512538;23219426 1316 D3GC14;Q99612 AB017493;ABBA01035220;AF001461;AF284036;AI355637;AK293259;AK316596;AL450322;AL513303;AMYH01001992;BC000311;BC004301;BC015987;BM544849;BM695496;BP357332;BQ017028;BT006778;BX537374;CD742988;CH471072;CR975091;CR994352;FJ619623;HI573934;HI573936;NG_012277;NM_001160124;NM_001160125;NM_001300;NR_027653;U44975;U51869 AAB94792;AAB94793;AAC23699;AAC39929;AAH00311;AAM73548;AAP35424;ABM81678;ACU45419;ADQ31593;BAA33050;BAG38183;BAG56791;CAD97616;CBX47456;CBX47457;EAW86476;EAW86477;EAW86478;EAW86479;NP_001153596;NP_001153597;NP_001291;Q99612 Hs.4055;Hs.709396 1646880;1725733;2129129;2154045;2159098;2163101;2217180 COPEB_2513;D10S1368E;D10S2364;G62122;RH48829;STS-AA018922;WI-12084 BCD1;CBA1;COPEB;CPBP;DKFZp686N0199;GBF;PAC1;ST12;ZF9 B-cell-derived protein 1;GC-rich binding factor;GC-rich sites-binding factor GBF;Krueppel-like factor 6;Kruppel-like zinc finger protein Zf9;OTTHUMP00000018986;core promoter element binding protein;core promoter element-binding protein;proto-oncogene BCD1;protooncogene B-cell derived 1;suppression of tumorigenicity 12 (prostate);suppressor of tumorigenicity 12 protein;transcription factor Zf9 APPROVED protein-coding ENSG00000067082 2235 03632 137215;176807;602053;613659 REVIEWED 1350312 KLF9 Kruppel-like factor 9 The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008] 9 9 q13 72189333 72219393 - 72999513 73029573 - 70784;6480464 1356762 22259059;8051167;19375645;18783612;18477211;18426912;18224337;18056793;17717078;16384861;12672823;12477932;8291025;8269949;8257632;7775404;11438660;15489334;15164053;20410205;21280156;20463357;21987111;22144178;21543766;22318606;22711835;21906983;22344221;19322201 687 Q13886 AB451404;ABBA01033823;AI458659;AI693223;AK313631;AL162390;AMYH01021394;BC069431;BC074879;BC074880;BE221978;CH471089;CQ834782;D31716;NM_001206;S72504 AAD14110;AAH69431;AAH74879;AAH74880;ABZ92418;BAA06524;BAG36390;BAG70218;CAH05606;EAW62503;EAW62504;NP_001197;Q13886 Hs.150557;Hs.602267 1674386;1684910;1856551;2132676 D9S2058;D9S2095;RH80755;WI-20373 BTEB;BTEB1 BTE-binding protein 1;GC-box-binding protein 1;Krueppel-like factor 9;OTTHUMP00000021441;basic transcription element binding protein 1;basic transcription element-binding protein 1;transcription factor BTEB1 APPROVED protein-coding ENSG00000119138 1123 04211 602902 REVIEWED 1602130 KLHDC10 kelch domain containing 10 7 7 7 q32.2 124506108 124571332 + 129497585 129560829 + 129710349 129775560 + 6480464 12690205;12477932;9039502;21145461;20562859;23102700;21139048 23008 C9JRT7;C9JRX2;Q6PID8 AACC02000033;ABBA01057596;ABBA01057597;ABBA01057598;ABBA01057599;ABBA01057600;AC087071;AF277177;AMYH01017933;BC009977;BC036464;BC044884;CH236950;CH471070;D87454;NM_014997 AAH09977;AAH36464;AAH44884;AAK07537;BAA13395;EAL24096;EAW83744;EAW83745;EAW83746;NP_055812;Q6PID8 Hs.520710 1725795;1767889;1852047;2118084;2142690;2153822;2156394 A006N09;G62136;RH36601;RH67951;SGC35002;SHGC-30776;STS-H67652 KIAA0265;slim OTTHUMP00000212346;OTTHUMP00000212347;PNAS-119;kelch domain-containing protein 10;scruin like at the midline homolog protein-coding 22194 17182 615152 VALIDATED 1317857 KLHDC1 kelch domain containing 1 14 14 14 q21.3 30019483 30079883 + 49229635 49289618 + 50159823 50219870 + 6480464 16964437;15489334;14702039;12477932;18029348;20549515;18095942 122773 G3V2D3;G3V3T1;G3V4I4;G3V5V5;Q8N7A1 ABBA01018114;ABBA01018115;ABBA01018116;ABBA01018117;AF111806;AK127202;AL591767;AL833437;AMYH01005712;AMYH01005713;BC031270;BC101595;BC101597;BC143596;BC143597;CH471078;CK822678;NM_172193 AAI01596;AAI01598;AAL39008;BAG54451;EAW65752;EAW65753;NP_751943;Q8N7A1 Hs.509258 5022578 D1S1423 MGC126644;MGC126646;MST025 OTTHUMP00000178979;kelch domain-containing protein 1 protein-coding ENSG00000197776 19836 13921 611281 VALIDATED 1606164 KLHDC7A kelch domain containing 7A 1 1 1 p36.13 17137264 17142332 + 18680011 18685080 + 18807424 18812493 + 6480464 14702039;12477932;20379614;21441570 127707 Q5VTJ3 ABBA01059735;AK096072;AL591896;AMYH01000306;BC101498;BC101500;BC151205;CH471134;NM_152375 AAI01499;AAI01501;AAI51206;BAC04695;EAW94851;NP_689588;Q5VTJ3 Hs.406913;Hs.710799 1688478 RH93043 FLJ38753;RP11-422P22.2 OTTHUMP00000002531;kelch domain-containing protein 7A protein-coding ENSG00000179023 26791 08246 VALIDATED 1322601 KLHDC4 kelch domain containing 4 16 16 16 q24.3 72038352 72096399 - 86298919 86357043 - 87741418 87799598 - 6480464 17081983;15489334;15302935;14702039;12477932;15342556;21906983;21044950 54758 H3BP99;H3BQ90;H3BQH3;H3BQL0;H3BTB1;H3BUX8;H3BV82;Q8TBB5 ABBA01006915;ABBA01006916;ABBA01006917;ABBA01006918;AC010536;AK001742;AK023986;AK057211;AK097097;AK098630;AL133107;AMYH01007901;BC001044;BC011680;BC022969;BP215584;CH471114;NM_001184854;NM_001184856;NM_017566 AAH01044;AAH11680;AAH22969;BAB14756;BAG53422;CAB61413;EAW95376;EAW95377;EAW95378;EAW95379;EAW95380;EAW95381;EAW95382;EAW95383;EAW95385;NP_001171783;NP_001171785;NP_060036;Q8TBB5 Hs.123450 1647690;2178507 RH48429;SHGC-60765 DKFZp434G0522;FLJ00104 OTTHUMP00000175012;kelch domain-containing protein 4 protein-coding ENSG00000104731 25272 11180 VALIDATED 1316101 KLHDC3 kelch domain containing 3 The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012] 6 6 6 p21.1 44534218 44541273 + 43089955 43097010 + 42981841 42989036 + 6480464 12606021;12482870;15489334;14702039;14574404;12755172;12477932;12444059;15146197;16344560;21145461;17353931;16751776;17207965;21139048;18775313;18187417 116138 E7ERR0;F8W6A4;Q9BQ90 AB055925;ABBA01050697;ABBA01050698;AK097719;AK290384;AK302336;AK308917;AL136304;AMYH01016311;BC000295;BC001789;BC001793;BC007296;BC009460;BC012987;BC021546;BC041793;BC045612;CH471081;CN269587;DB057971;DC395338;NM_057161;NR_040101 AAH00295;AAH01789;AAH01793;AAH07296;AAH09460;AAH21546;AAH41793;AAH45612;ADQ32723;BAB63257;BAC05149;BAF83073;BAG63666;EAX04136;EAX04137;EAX04138;EAX04139;EAX04140;EAX04141;EAX04142;NP_476502;Q9BQ90 Hs.412468 1729049;1797146;1852527;2130517;5123583 D6S1897;MEA;RH35864;UniSTS:143850;WI-18871 PEAS;RP1-20C7.3;dJ20C7.3;hPEAS OTTHUMP00000016414;OTTHUMP00000207001;kelch domain-containing protein 3;protein Peas;testis intracellular mediator protein APPROVED protein-coding ENSG00000124702 20704 13922 611248 REVIEWED 1602443 KLHDC7B kelch domain containing 7B 22 22 22 q13.33 34862494 34865484 + 49333328 49335409 + 50986462 50989452 + 6480464 15489334;12477932;8889548;20372783 113730 Q96G42 ABBA01042625;AMYH01012916;BC009980;CH471138;CN479146;NM_138433;U62317 AAH09980;EAW73566;NP_612442;Q96G42 Hs.137007 MGC16635 OTTHUMP00000196771;kelch domain-containing protein 7B protein-coding ENSG00000130487 25145 14453 VALIDATED 1315157 KLHDC2 kelch domain containing 2 14 14 14 q21.3 30102486 30117555 + 49304537 49319606 + 50234787 50249856 + 6480464 15778465;17353931;16964437;15489334;14702039;12477932;12097419;11384994;16169070;21145461;21139048;21890473;18187417 23588 G3V2H2;G3V3U8;Q9Y2U9 ABBA01018118;AF113131;AF244137;AK001771;AK056298;AL591767;AMYH01005715;BC002335;BC024192;BX161429;CD356831;CF994676;CH471078;CR457205;NM_014315 AAD21038;AAF66246;AAH02335;AAH24192;ABM86302;ABW03800;BAA91898;BAG51671;CAD61901;CAG33486;EAW65749;EAW65750;NP_055130;Q9Y2U9 Hs.509264 5112165 RH102062 HCLP-1;HCLP1;LCP OTTHUMP00000178966;OTTHUMP00000244541;OTTHUMP00000244543;hepatocellular carcinoma-associated antigen 33;host cell factor homolog LCP;host cell factor-like protein 1;kelch domain-containing protein 2 protein-coding ENSG00000165516 20231 08824 611280 VALIDATED 1605377 KLHDC8A kelch domain containing 8A This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 1 q32.1 178440807 178461212 - 203572271 203592662 - 205305648 205326039 - 6480464 15489334;14702039;12477932;17207965;22318606;20133782 55220 F5H5F1;Q8IYD2 AA908205;ABBA01027418;AC098933;AC098936;AI698122;AK001610;AK096590;AK299227;AMYH01001670;BC036076;CH471067;DA497063;DA682691;DA718283;DA776996;DB055006;NM_001271863;NM_001271864;NM_001271865;NM_018203 AAH36076;ADQ31686;BAA91787;BAG53332;BAH12975;EAW91550;EAW91551;EAW91552;EAW91553;NP_001258792;NP_001258793;NP_001258794;NP_060673;Q8IYD2 Hs.10414 1756573;2122706;2156896;2170113 D1S1889E;SHGC-143606;SHGC-31997;SHGC-76217 FLJ10748 OTTHUMP00000035321;OTTHUMP00000035322;S-delta-E1;kelch domain-containing protein 8A;substitute for delta-EGFR expression 1 protein-coding ENSG00000162873 25573 07696 614503 REVIEWED 1605002 KLHDC9 kelch domain containing 9 1 1 1 q23.3 134135326 134137313 + 159334778 159336760 + 161068151 161070138 + 6480464 15159402;14702039;12477932;17207965;12107411;15342556 126823 Q8NEP7 ABBA01016599;AK093268;AL591806;AMYH01001457;AY601914;BC022077;BC032482;BC066896;BG718418;BI549017;BP379202;BQ638407;BU173744;BU622692;CH471121;NM_001007255;NM_152366;NR_033385;NR_033386 AAH22077;AAH32482;AAH66896;AAT09158;ADQ32971;BAC04114;EAW52659;EAW52660;EAW52661;EAW52662;EAW52663;EAW52664;NP_001007256;NP_689579;Q8NEP7 Hs.507290 1736590;1848987;1855827;2157923;5092620 A005B35;D1S2071E;D1S3274;G32219;WI-15774 KARCA1;MGC33338;RP11-544M22.9 OTTHUMP00000029706;OTTHUMP00000217522;kelch domain-containing protein 9;kelch/ankyrin repeat-containing cyclin A1-interacting protein protein-coding ENSG00000162755 28489 13751 VALIDATED 1321388 KLHL14 kelch-like family member 14 18 18 18 q12.1 27060909 27161231 - 28506632 28606972 - 30252634 30352974 - 737633;1580863;6480464 12477932 10718198;19535332;20379614;22939624;23569223 57565 J3QQM3;Q9P2G3 AB037805;ABBA01022478;ABBA01022479;ABBA01022480;ABBA01022481;AC012123;AC025887;AK294996;AMYH01008930;BC021267;CH471088;NM_020805 AAH21267;BAA92622;BAG58061;EAX01294;EAX01295;EAX01296;NP_065856;Q9P2G3 Hs.446164 1704322;1718975;1755937;2219860 KLHL14__6528;RH123196;SHGC-142763;SHGC-83303 kelch-like 14;kelch-like protein 14;printor;protein interactor of Torsin-1A;protein interactor of torsinA APPROVED protein-coding ENSG00000197705 29266 17238 613772 PROVISIONAL 1346633 KLHL12 kelch-like family member 12 1 1 1 q32.1 175989447 176025617 - 201126853 201162994 - 202860230 202896371 - 737633;6480464;6484113 12477932 17543862;21145461;16189514;16713569;18303015;16547521;16108817;15489334;15383316;14702039;8125298;19536175;20100572;16196087;18775313;21139048;21906983;19295130 59349 J3QSX3;Q53G59;Q9H7R2 ABBA01027491;ABBA01027492;ABBA01027493;ABBA01027494;ABBA01027495;AC096632;AF190900;AF306687;AF306689;AK024412;AK027656;AK130662;AK223072;AK301791;AMYH01001652;BC003183;BC004175;CH471067;NM_021633 AAG17175;AAH03183;AAH04175;ABZ92369;BAB14914;BAB55271;BAD96792;BAH13554;EAW91444;EAW91445;EAW91446;EAW91447;EAW91448;NP_067646;Q53G59 Hs.706793 1688911;1693042;1719259;2183483 AL034249;RH123350;RH38852;SHGC-76168 C3IP1;DKIR;FLJ27152;hDKIR CUL3-interacting protein 1;DKIR homolog;OTTHUMP00000038799;kelch-like 12;kelch-like protein 12;kelch-like protein C3IP1 APPROVED protein-coding ENSG00000117153 19360 13925 614522 PROVISIONAL 1602285 KLHDC8B kelch domain containing 8B This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010] 3 3 3 p21.31 49166287 49171188 + 49184072 49188923 + 49209018 49213919 + 6480464;7240710 15498874;15489334;14702039;12477932;18029348;19706467;20107318;8401585;21102462;22988245;21906983 200942 Q8IXV7;Q96DZ8 ABBA01024607;AC135506;AK002164;AK294160;AMYH01013155;AY129011;BC013110;BC039083;CH471055;CS072427;NG_027702;NM_173546;T08504 AAH13110;AAH39083;AAM98754;BAG57483;CAI93565;EAW64961;EAW64962;EAW64963;NP_775817;Q8IXV7 Hs.13781 1683020 RH79955 FLJ11302;MGC35097 OTTHUMP00000210678;kelch domain-containing protein 8B APPROVED protein-coding ENSG00000185909 28557 14598 236000;613169 REVIEWED 1316652 KLHL1 kelch-like family member 1 The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010] 13 13 13 q21 51176734 51584696 - 69172726 69580460 - 70274725 70682625 - 1580863 10888605;18708037;17289272;16982692;15761153;15057823;14702039;12477932;10819331;20147652;20379614;21427078;22085899;21963094;22939624;22952603;23251661;19734545 57626 F5H1J3;Q8TBJ7;Q9NR64 AB040923;ABBA01050309;ABBA01050310;ABBA01050311;ABBA01050312;AF252279;AF252283;AK054609;AK291435;AK295939;AL160391;AL162378;AL353738;AL356384;AL590554;AL596302;AMYH01005192;AMYH01005193;AMYH01005194;AMYH01005195;AMYH01005196;BC022460;CH471093;NM_020866 AAF81716;AAF81719;AAH22460;ABM81824;ABM84978;BAA96014;BAF84124;BAH12224;EAW80503;NP_065917;Q9NR64 Hs.508201 1340040;1649571;1680875;1703642;1705416;1714651;1718685;1737347;1737363;1759203;1848045;1855269;2121834;2164862;5094983 D13S1154;D13S1296;D13S1649;D13S318;D13S942;D13S954;KLHL1;RH119990;RH123033;RH48019;RH65808;SHGC-151142;SHGC-24183;SHGC-78755;SHGC-83571 FLJ30047;KIAA1490;MRP2 Mayven-related protein 2;OTTHUMP00000018492;kelch-like protein 1 APPROVED protein-coding ENSG00000150361 6352 05623 605332 VALIDATED 1344199 KLHL10 kelch-like family member 10 17 17 17 q21.2 36645384 36655940 + 37247569 37258125 + 39994043 40004599 + 6480464 17047026;15489334;15342556;15136734;14702039;12477932;20218307 317719 C9J999;C9JHB3;Q6JEL2 ABBA01006448;ABBA01006449;AC091172;AC125257;AK057224;AK301797;AK302141;AMYH01008388;AY495339;BC067753;BP371285;CH471152;HC007064;NM_152467 AAI60168;AAS91792;BAB71387;BAG63249;BAG63514;CBH19337;EAW60774;NP_689680;Q6JEL2 Hs.127510 1685948;2107249;2174261 Cda17c01;KLHL10__7470;RH35998 FLJ32662;SPGF11 OTTHUMP00000201840;kelch-like 10;kelch-like protein 10 APPROVED protein-coding ENSG00000161594 18829 12296 608778;615081 VALIDATED 1315423 KLHL11 kelch-like family member 11 17 17 17 q21.2 36661140 36672965 - 37263325 37275155 - 40009799 40021629 - 1580863;6480464 21145461;15489334;14702039;12477932;21139048;21890473;21906983;21963094;22053931;22505724 55175 Q9NVR0 ABBA01006448;AC091172;AC125257;AK001434;AK301952;AMYH01008388;BC034470;CH471152;NM_018143 AAH34470;BAA91689;BAG63367;EAW60775;EAW60776;NP_060613;Q9NVR0 Hs.592134 1653211;2184417;2219858 D17S2155;KLHL11__6526;WI-20027 FLJ10572 OTTHUMP00000164771;kelch-like 11;kelch-like protein 11 APPROVED protein-coding ENSG00000178502 19008 13924 PROVISIONAL 1348319 KLHL17 kelch-like family member 17 The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010] 1 1 1 p36.33 1690578 1695031 - 885830 890958 + 895967 901099 + 625502;6480464 12063253 16710414;12477932;21145461 339451 J3QLT4;Q6TDP4 AA774437;ABBA01016005;AK127585;AK293258;AL645608;AMYH01000104;AY423763;BC033192;BC045768;BC105742;CA432461;CH471183;NG_027546;NM_198317 AAH45768;AAI05743;AAI66618;AAR03710;BAG54529;BAG56790;EAW56300;EAW56301;EAW56302;EAW56303;NP_938073;Q6TDP4 Hs.109212 1699068;1757941 RH103110;SHGC-146903 RP11-54O7.6 OTTHUMP00000038433;actinfilin;kelch-like 17;kelch-like protein 17 APPROVED protein-coding ENSG00000187961 24023 13926 REVIEWED 1351976 KLHL18 kelch-like family member 18 3 3 3 p21.31 47262930 47326952 + 47299444 47363310 + 47324330 47388306 + 737633;1580863;6480464 12477932 21145461;16381901;15489336;15489334;14702039;11230166;11076863;9872452;19615732;19295130 23276 B4DHW4;C9J4G4;F8WCL4;F8WF78;O94889 AB018338;AB062478;ABBA01024698;ABBA01024699;AC104447;AI356423;AK001337;AK023765;AK291477;AK295292;AMYH01013141;AY714879;BC015962;BC016388;BC032620;BU625052;BX537953;CH471055;NM_025010 AAH15962;AAH16388;AAH32620;AAU21222;BAA34515;BAB14670;BAB93503;BAF84166;BAG58276;CAD97920;CAL38147;CAL38642;EAW64818;EAW64819;EAW64820;EAW64821;NP_079286;O94889 Hs.517946 1725247;2121638;2156433;2160144;2183325 D3S2848E;D3S4067;D3S4079;RH113;RH118916 FLJ13703;FLJ61265;KIAA0795 OTTHUMP00000210050;kelch-like protein 18 APPROVED protein-coding ENSG00000114648 29120 10017 VALIDATED 6481067 KLHL22-IT1 KLHL22 intronic transcript 1 (non-protein coding) 100874358 AC007731 miscrna 41481 1342476 KLHL13 kelch-like family member 13 This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X X q23-q24 117486583 117706100 - 116915804 116990881 - 117031776 117251303 - 1580863;6480464;6907045 18247557;21145461;19084217;15772651;15489334;14702039;12477932;10718198;15342556;16344560;17543862;18075312;19615732;23314748;18775313;19995937;21890473;21906983;21963094;22939624;19295130 90293 B7ZB44;C9JTS9;Q96HC9;Q96QI7 AB037730;ABBA01036843;ABBA01036844;ABBA01036845;ABBA01036846;ABBA01036847;ABBA01036848;ABBA01036849;ABBA01036850;ABBA01036851;ABBA01036852;ABBA01036853;ABBA01036854;ABBA01036855;ABBA01036856;ABBA01036857;ABBA01036858;ABBA01036859;ABBA01036860;AC003012;AC006963;AC006968;AK001124;AK122724;AK125356;AK296324;AK297523;AK299257;AK302713;AK316509;AL590114;AL591986;AMYH01022874;BC008729;BC064576;BP380009;CH471161;DA214831;DA413195;DB074659;DC343916;DC354391;NG_016759;NM_001168299;NM_001168300;NM_001168301;NM_001168302;NM_001168303;NM_033495 AAF03529;AAH08729;AAH64576;ABZ92079;BAA91514;BAA92547;BAG53690;BAG54189;BAH12315;BAH12605;BAH12978;BAH13788;BAH14880;CAC41335;EAW89898;EAW89899;EAW89900;NP_001161771;NP_001161772;NP_001161773;NP_001161774;NP_001161775;NP_277030;Q9P2N7 Hs.348262 1691580;1701812;1702000;1776729;2123188;2172340;5095882;5491886 AF020103;AL031562;AL032573;DXS1305;DXS7918;DXS8218;KLHL13;RH65357 BKLHD2;FLJ10262;KIAA1309;MGC74791 BTB and kelch domain containing 2;OTTHUMP00000023881;OTTHUMP00000023882;OTTHUMP00000023883;OTTHUMP00000023885;OTTHUMP00000215715;kelch-like 13;kelch-like protein 13 APPROVED protein-coding ENSG00000003096 22931 06461 300655 REVIEWED 1351915 KLHL15 kelch-like family member 15 This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009] X X X p22.1-p21 28123598 28167503 - 23915884 23955224 - 24001833 24045303 - 1580863;6480464 14528312;15870933;15489334;14702039;12477932;11214970;21145461;19615732;23135275;21906983 80311 Q96M94 AA825676;AB051464;ABBA01072267;ABBA01072268;ABBA01072269;ABBA01072270;ABBA01072271;AC079169;AC079376;AK057298;AL834313;AMYH01022158;AMYH01022159;AMYH01022160;BC015415;BC109058;BC109059;CH471074;NG_012625;NM_030624 AAH15415;AAI09059;AAI09060;BAB21768;BAB71415;CAD38983;EAW99007;EAW99008;NP_085127;Q96M94 Hs.495854 1683505;1787276 RH103164;SHGC-144706 KIAA1677;MGC126148;MGC126149 OTTHUMP00000023075;kelch-like 15;kelch-like protein 15 APPROVED protein-coding ENSG00000174010 29347 REVIEWED 1314975 KLHL2 kelch-like family member 2 4 4 4 q21.2 163459950 163579735 + 166348238 166463749 + 166128770 166244308 + 1580863;6480464 10397770;16344560;16189514;16035103;15735724;15489334;12477932;15383316;21145461;20379614;20360068;21549840;19121354 11275 B4DFZ5;D6R9G5;D6RAP5;D6RGC3;E9PEX9;O95198 AB209727;ABBA01070291;AC012504;AC055120;AC107059;AF059569;AI814691;AK025289;AK294103;AK294336;AK308940;AK315372;AL541403;AMYH01014673;BC022503;BC036468;BX647776;CH471056;DA250099;NM_001161521;NM_001161522;NM_007246 AAC67502;AAH22503;AAH36468;ABM84564;ABM86514;BAD92964;BAG37765;BAG57438;BAG57606;EAX04822;EAX04823;EAX04824;EAX04825;NP_001154993;NP_001154994;NP_009177;O95198 Hs.388668 1657109;1657111;1705092;1709758;1713289;1719389;2158318;2182214;2190557 D4S1261;D4S1274;EST27A10;G34440;RH120636;RH123422;SHGC-67795;SHGC-79963;SHGC-84692 ABP-KELCH;MAV;MAYVEN OTTHUMP00000219994;OTTHUMP00000219995;OTTHUMP00000219997;OTTHUMP00000219998;actin-binding protein Mayven;kelch;kelch-like 2, Mayven;kelch-like protein 2 APPROVED protein-coding ENSG00000109466 6353 09311 605774 VALIDATED 1351698 KLHL21 kelch-like family member 21 1 1 1 p36.31 5764642 5776787 - 6573371 6585516 - 6650784 6662929 - 1580863;6480464 21145461;16710414;16303743;14702039;12477932;9455484;19995937;21987572;21906983;22053931;22505724 9903 K7ELI0;K7EMF2;K7ESH2;Q9UJP4 AB007938;ABBA01035458;AK057164;AK075305;AK090472;AK307564;AL591866;AMYH01000217;BC034039;BC064980;BC091648;BC111766;CH471130;NM_014851 AAH34039;AAH91648;AAI11767;BAA32314;BAC03453;BAG52104;EAW71558;EAW71559;NP_055666;Q9UJP4 Hs.7764 1664171;2136257;2137978;5022651 A002O35;D11S2921;D1S1873E;D1S3612 KIAA0469;MGC99635 OTTHUMP00000001572;OTTHUMP00000001573;kelch-like 21;kelch-like protein 21 APPROVED protein-coding ENSG00000162413 29041 17239 PROVISIONAL 1343100 KLHL20 kelch-like family member 20 The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008] 1 1 1 q25.1 146793483 146865313 + 171950703 172022463 + 173684080 173755840 + 6480464;6484113 10888605;12493773;17395875;16710414;15489334;14702039;14668487;12477932;10603472;16169070;21145461;19615732;20389280;16712791;18029348;21840486;21888897;21890473;21906983 27252 B4DUR0;Q9Y2M5 AB026190;ABBA01027900;ABBA01027901;ABBA01027902;AJ844466;AK001430;AK300755;AK308048;AL109921;AMYH01001504;BC005253;BC063418;BX248409;CB143306;CH471067;NM_014458 AAH05253;AAH63418;BAA77027;BAG50912;BAG62422;CAH59617;EAW90952;EAW90953;EAW90954;EAW90955;NP_055273;Q9Y2M5 Hs.495035 2141824;2158051 AL009545;SHGC-75892 KHLHX;KLEIP;KLHLX;RP3-383J4.3 Kelch motif containing protein;OTTHUMP00000038347;kelch-like 20;kelch-like ECT2 interacting protein;kelch-like ECT2-interacting protein;kelch-like protein 20;kelch-like protein X APPROVED protein-coding ENSG00000076321 25056 13918 REVIEWED 1603221 KLHL24 kelch-like family member 24 3 3 3 q27.1 181794950 181843839 + 184836105 184885001 + 183353411 183402307 + 6480464 18692513;17254796;14702039;21145461;19615732;12477932;21890473;19322201 54800 C9J0A6;C9J2N4;C9J3M5;C9JCK3;C9JMQ9;C9JN72;C9JQ67;C9JXR5;Q6TFL4 ABBA01058475;AC068769;AK000066;AK024270;AK026326;AK098662;AMYH01013709;AY422472;BC142993;BX648466;BX648812;CH471052;CQ859794;DQ925701;NM_017644 AAI42994;AAI43061;AAR13703;ABI96896;BAA90921;BAB15447;CAH25947;CAI46002;CAI46031;EAW78319;EAW78320;NP_060114;Q6TFL4 Hs.407709 1341893;1746785;1754763;2109249;2126776;2180986;5015619;5015961;5022651;5037552 D11S2921;D11S3114;D15S1477;D3S1618;D8S2279;DRE1_9818;G64810;SHGC-33134;SHGC-77591;SHGC-77598 DRE1;FLJ25796;KRIP6 OTTHUMP00000211001;OTTHUMP00000211002;OTTHUMP00000212605;kainate receptor interacting protein for GluR6;kainate receptor-interacting protein for GluR6;kelch-like 24;kelch-like protein 24 APPROVED protein-coding 25947 16838 611295 VALIDATED 1602999 KLHL22 kelch-like family member 22 22 22 22 q11.21 4282529 4336886 - 19125806 19180122 - 20795806 20850170 - 6480464 17543862;21145461;15489334;15461802;14702039;12477932;8125298;16344560;19615732;19995937;18775313;21139048;21890473;21906983;19295130;22797925;22939624;23393555;23455478 84861 B7Z2G1;C9J191;C9J2T1;C9J5F8;C9JHG1;C9JLE9;C9JRG9;H7BZZ5;Q53GT1 ABBA01015454;ABBA01015455;AC007731;AK024369;AK027266;AK222850;AK290669;AK294682;AMYH01012534;AMYH01012535;BC015923;CH471176;CR456352;DA381792;NM_032775;NR_033825 AAH15923;BAB55007;BAD96570;BAF83358;BAH11847;CAG30238;CAK54493;CAK54792;EAX02961;EAX02962;EAX02963;EAX02964;NP_116164;Q53GT1 Hs.517419 1684298;2126597;5014051;5020740;5021872;5037552;5118576 D11S3430;D8S2278;D8S2279;L17809;RH93744;STS-N38751;sY3084 KELCHL OTTHUMP00000198478;OTTHUMP00000198518;kelch-like 22;kelch-like protein 22 APPROVED protein-coding ENSG00000099910 25888 07858 VALIDATED 6483938 KLHL2P1 kelch-like family member 2 pseudogene 1 4 q26 120255484 120299388 + 20379614;9847074 729249 ABBA01044706;ABBA01044707;AC092656;AC110373;AMYH01014484;NG_012269 1657109;1657111;1709758;2158318;2182214 D4S1261;D4S1274;G34440;SHGC-67795;SHGC-84692 MAVP1 APPROVED pseudo 44046 INFERRED 1605864 KLHL23 kelch-like family member 23 2 2 2 q31.1 164169808 164225250 + 170259247 170314684 + 170590356 170608396 + 6480464 21145461;16765319;15489334;14702039;12477932;10737800;19615732;21900206;21890473;21906983;22939624;23251661;22505724 151230 H7C0F4;H7C1K9;Q8NBE8 ABBA01014893;ABBA01014894;ABBA01014895;ABBA01014896;AC009967;AC016772;AK095131;AK123454;AMYH01011250;AMYH01011251;BC010437;BC016950;BE326381;BJ990781;BQ343827;CH471058;NM_144711;R08525 AAH10437;AAH16950;ADR82752;BAC04490;EAX11261;NP_653312;Q8NBE8 Hs.655150;Hs.745233 1651803;1651805;1671163;1675702;1784276;2114357 A005O14;Cda1cg02;G20372;RH36243;RH79855;SHGC-172949 DITHP;FLJ37812;FLJ41460;MGC22679;MGC2610 OTTHUMP00000163068;OTTHUMP00000204783;kelch-like 23;kelch-like protein 23 APPROVED protein-coding ENSG00000213160 27506 11320 VALIDATED 1605054 KLHL25 kelch-like family member 25 15 15 15 q25.3 62702507 62738117 - 84103561 84139193 - 86302557 86338189 - 6480464 11256614;17903295;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;21145461;22578813 64410 Q9H0H3 ABBA01052969;AC021739;AK022649;AK056663;AK092231;AK126962;AK315541;AL109693;AL136796;AMYH01006897;AY764034;BC028100;CH471101;DA337553;DB063745;NM_022480 AAH28100;AAV51405;ABZ92048;BAB14155;BAG37919;BAG51779;BAG52499;CAB66730;CAL37895;CAL38651;EAX01979;NP_071925;Q9H0H3 Hs.498371 1664746 WI-13910 ENC-2;ENC2;FLJ12587;FLJ45015 BTB/POZ KELCH domain protein;OTTHUMP00000192901;ectoderm-neural cortex protein 2;ectodermal-neural cortex 2;kelch-like 25;kelch-like protein 25 APPROVED protein-coding ENSG00000183655 25732 07780 VALIDATED 1602473 KLHL26 kelch-like family member 26 19 19 19 p13.11 18650015 18683043 + 18608838 18642302 + 18747838 18781302 + 6480464 21145461;16713569;15489334;14702039;12477932;8125298;16169070;21139048;21906983;21987572;22419666;22505724 55295 M0QXE1;M0R049;M0R1N0;M0R1P3;Q53HC5 ABBA01051277;ABBA01051278;AC004476;AC008998;AK001940;AK222656;AK294074;AMYH01009598;BC026319;CH471106;NM_018316 AAH26319;ADZ15731;BAA91990;BAD96376;BAG57416;EAW84728;EAW84729;NP_060786;Q53HC5 Hs.250632 1336238;1721619;2147929;2153963 A004Q16;D19S895;G59820;RH48500 FLJ11078 kelch-like 26;kelch-like protein 26 APPROVED protein-coding ENSG00000167487 25623 07728 PROVISIONAL 1322718 KLHL28 kelch-like family member 28 14 14 14 q21.2 25254783 25292435 - 44463277 44500929 - 45393527 45431179 - 1580863;6480464 16344560;15489334;14702039;12477932;21145461;21139048 54813 G3V2P9;G3V4Y0;G3V5Y9;J3KNY7;J3KRJ0;Q9NXS3 ABBA01018044;ABBA01018045;AK000088;AK225183;AK225211;AK289855;AL049870;AL713035;AMYH01005701;BC057794;BC121009;BC121010;BM998529;CA433205;CH471078;DA247273;DA529695;NM_017658 AAI21010;AAI21011;BAA90937;BAF82544;EAW65792;EAW65793;EAW65794;EAW65795;NP_060128;Q9NXS3 Hs.550906 1698162;2109097;2136709;2140005;5015961;5024039;5037552;5093700 A009V11;BTBD5_9825;D15S1477;D16S325;D8S2279;G32872;G36186;RH102616 BTBD5;FLJ20081 BTB/POZ domain-containing protein 5;OTTHUMP00000178912;OTTHUMP00000178913;kelch-like 28;kelch-like protein 28 APPROVED protein-coding 19741 12539 VALIDATED 1605890 KLHL29 kelch-like family member 29 2 2 2 p24.1 23450093 23772958 + 23459203 23784987 + 23608298 23931483 + 6480464 19240061;15489334;14702039;12477932;11572484;10737800;21546767;19913121;20628086;20379614;21347282;22939624;23251661 114818 H0Y2P5;Q96CT2 AA775711;AB067508;ABBA01045092;ABBA01045093;AC009242;AC011239;AC012506;AK024168;AK094600;AL834515;AMYH01010161;AMYH01010162;AMYH01010163;BC013982;BC015667;BC069271;BE142100;CH471053;DR002067;NM_052920 AAH13982;AAH15667;AAH69271;AAY14852;ADZ15399;BAB67814;CAD39171;EAX00791;NP_443152;Q96CT2 Hs.130593 1340804;1705656;1706546;1710356;1747759;1759139;1851544;2158597;2160732;2180203 D2S2337;G66811;RH36252;RH45302;SHGC-150971;SHGC-52422;SHGC-81248;SHGC-82435;SHGC-83402;STS-M78941 KBTBD9;KIAA1921 OTTHUMP00000216456;kelch repeat and BTB (POZ) domain containing 9;kelch repeat and BTB domain-containing protein 9;kelch-like 29;kelch-like protein 29 APPROVED protein-coding ENSG00000119771 29404 VALIDATED 1346820 KLHL3 kelch-like family member 3 This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012] 5 5 5 q31 133075978 133193214 - 136981088 137099362 - 136953189 137071779 - 1580863;6480464 10843806;16344560;15372022;14702039;12477932;11259487;10734137;10574461;14528312;22266938;22406640;19322201;23573258;23576762;23453970;23387299 26249 D6R9K4;D6RH21;F5GY36;Q8N4I8;Q9UH77 AB032955;ABBA01068704;ABBA01068705;ABBA01068706;ABBA01068707;AC004021;AC092318;AC106775;AF208068;AF208069;AF208070;AK300172;AK303916;AK310568;AK311594;AK314707;AMYH01015636;AMYH01015637;BC034035;BC045683;CH471062;DA083147;NG_032569;NM_001257194;NM_001257195;NM_017415 AAB97127;AAF20938;AAF20939;AAF20995;AAH34035;AAH45683;BAA86443;BAG37254;BAH13228;BAH14080;EAW62183;EAW62184;NP_001244123;NP_001244124;NP_059111;Q9UH77 Hs.655084 1341676;1651489;1672332;1697020;1780644;1850991;1852794;2145491;2174245;2219862 AFM350yb1;D5S1983;EST179535;KLHL3__6338;L28221;L28232;L31431;RH101986;SGC32895;bac51504T FLJ40871;KIAA1129;MGC44594;PHA2D OTTHUMP00000159431;OTTHUMP00000223401;OTTHUMP00000223402;OTTHUMP00000223403;kelch-like protein 3 APPROVED protein-coding ENSG00000146021 6354 09011 605775;614495 REVIEWED 1348720 KLHL31 kelch-like family member 31 6 6 6 p12.1 55174866 55192685 - 53620658 53638465 - 53512699 53530506 - 6480464 18719355;15302408;14702039;14574404;12477932;23251661 401265 Q9H511 ABBA01050526;AL157773;AMYH01016360;BC137267;BC137269;CH471081;EF633513;NM_001003760 AAI37268;AAI37270;ABR23528;EAX04428;NP_001003760;Q9H511 Hs.131064 1706218;1728043 G63292;SHGC-80641 BKLHD6;KBTBD1;KLHL;bA345L23.2 BTB and kelch domain-containing protein 6;OTTHUMP00000016633;kelch repeat and BTB domain-containing protein 1;kelch-like protein 31;kelch-like protein KLHL APPROVED protein-coding ENSG00000124743 21353 13923 610749 VALIDATED 1606872 KLHL30 kelch-like family member 30 2 2 2 q37.3 232759906 232774089 + 238714156 238726286 + 239047363 239061547 + 6480464 15489334;14702039;12477932 377007 J3KND5;Q0D2K2 ABBA01042601;ABBA01042602;AC016757;AK125364;AMYH01011602;BC103703;BC104749;BC105696;BX280405;CH471063;NM_198582 AAI05697;BAC86148;EAW71141;NP_940984;Q0D2K2 Hs.591595 5020948 G35510 FLJ43374 OTTHUMP00000202680;kelch-like 30;kelch-like protein 30 APPROVED protein-coding ENSG00000168427 24770 13472 VALIDATED 1321228 KLHL32 kelch-like family member 32 6 6 6 q16.1 98014544 98232272 + 97479217 97695351 + 97372496 97588630 + 1580863;6480464 16344560;14702039;12477932;11572484;21832049 114792 B7Z346;B7Z4E2;Q5THS9;Q5THT1;Q8IXH0;Q96NJ5 AB067487;ABBA01014520;ABBA01014521;ABBA01014522;AF351610;AK055292;AK295479;AK297240;AL023656;AL033375;AL356958;AMYH01016528;AMYH01016529;BC031830;BC047491;BC071627;CH471051;DA296671;DC314842;NM_052904 AAH71627;AAN76510;BAB67793;BAB70899;BAH12082;BAH12528;EAW48497;EAW48498;EAW48499;EAW48500;NP_443136;Q96NJ5 Hs.45056 1673054;1709160;1710442;2123803;2130429;2148430 D6S2142;RH37442;SHGC-31724;SHGC-82519;SHGC-85742;STS-N40195 BKLHD5;KIAA1900;MGC51280;MGC87753;RP1-39B17.1;UG0030H05;dJ21F7.1 BTB and kelch domain containing 5;BTB and kelch domain-containing protein 5;OTTHUMP00000016883;kelch-like 32;kelch-like protein 32 APPROVED protein-coding ENSG00000186231 21221 13898 VALIDATED 1642111 KLHL33 kelch-like family member 33 14 14 14 q11.2 758117 764951 - 19966848 19973895 - 20896970 20903801 - 12477932;16368877 123103 A6NCF5;B2RUZ8 ABBA01061228;AL355075;AMYH01005588;BC146951;BC146954;BC151130;BY797694;CH471078;NM_001109997 A6NCF5;AAI46952;AAI46955;AAI51131;EAW66474;NP_001103467 Hs.556014 OTTHUMP00000244784;kelch-like 33;kelch-like protein 33 APPROVED protein-coding ENSG00000185271 31952 VALIDATED 1603871 KLHL35 kelch-like family member 35 11 11 11 q13.4 72441187 72449422 - 74811086 74818881 - 75133438 75141674 - 6480464 14702039;12477932;15761153 283212 F5H412;Q6PF15 ABBA01017465;ABBA01017466;AK091109;AL050370;AMYH01003817;AP000744;BC042952;BC057763;BC131539;BC132708;BC132710;BI464945;CH471076;NM_001039548 AAH42952;AAH57763;AAI32709;AAI32711;ADR82981;BAC03585;EAW74964;EAW74965;EAW74966;NP_001034637;Q6PF15 Hs.292451 2169707;2182595;5015619;5037552 A005D09;D11S3114;D8S2279;RH35764 26597;DKFZp566C0546;FLJ33790 OTTHUMP00000164943;kelch-like 35;kelch-like protein 35 APPROVED protein-coding ENSG00000149243 26597 08747 VALIDATED 2300033 KLHL38 kelch-like family member 38 8 8 8 q24.13 120845677 120852952 - 124727096 124734371 - 124657915 124665190 - 6480464 12477932;20379614 340359 Q2WGJ6 AB196636;ABBA01037880;AC135166;AMYH01019005;BC127886;CH471060;NM_001081675 AAI27887;BAE53438;EAW92045;NP_001075144;Q2WGJ6 Hs.450252 1731893 D8S44 C8ORFK36 OTTHUMP00000228097;kelch-like 38;kelch-like protein 38 APPROVED protein-coding ENSG00000175946 34435 VALIDATED 1603872 KLHL34 kelch-like family member 34 X X X p22.12 25794508 25797347 - 21583530 21586369 - 21673609 21676448 - 6480464 15772651;15489334;14702039;12477932 257240 Q8N239 ABBA01071985;ABBA01071986;AK092279;AL772392;AMYH01022139;BC109031;CH471074;NM_153270 AAI09032;BAC03848;EAW98979;NP_695002;Q8N239 Hs.448572 1659052;2159585 DXS8249;RH46327 FLJ34960;MGC125650;RP11-450P7.3 OTTHUMP00000023043;kelch-like 34;kelch-like protein 34 APPROVED protein-coding ENSG00000185915 26634 06558 PROVISIONAL 1351992 KLHL41 kelch-like family member 41 2 2 2 q31.1 163985145 164001693 + 170074458 170091018 + 170366212 170382772 + 737633;1580798;1580863;6480464 12477932;11583900 9655184;16396496;15489334;10713668;8889549;15983046;12692149;18029348;21890473;19424503 10324 O60662;Q3ZTS6 AA194290;ABBA01014890;AC093899;AF056929;AF333387;AK316571;AMYH01011247;AY364252;BC006534;CH471058;NM_006063 AAC13686;AAG52886;AAH06534;AAQ76811;AAY24117;ABM86980;ABW03848;BAG38160;EAX11275;NP_006054;O60662 Hs.50550 1734726;2108179 D2S1514E;KBTBD10_7970 FLJ60989;KBTBD10;Krp1;SARCOSIN OTTHUMP00000163060;kel-like protein 23;kelch repeat and BTB (POZ) domain containing 10;kelch repeat and BTB domain-containing protein 10;kelch-like 41;kelch-like protein 41;kelch-related protein 1;sarcomeric muscle protein APPROVED protein-coding ENSG00000239474 16905 07610 607701 VALIDATED 6481367 KLHL6-AS1 KLHL6 antisense RNA 1 100874019 AC069211 APPROVED miscrna 40850 1350475 KLHL36 kelch-like family member 36 16 16 16 q24.1 68984322 68998096 + 83239632 83253417 + 84682131 84695916 + 6480464 12477932;15489334;14702039;21145461;20966902;21906983 79786 H3BPB9;H3BQE9;H3BQW5;Q8N4N3 ABBA01016902;ABBA01016903;AC009116;AK022605;AK074056;AK122745;AMYH01007870;BC032400;BC033821;CH471114;NM_024731 AAH32400;AAH33821;ABZ92060;ADR82747;BAB14124;BAB84882;EAW95473;EAW95474;NP_079007;Q8N4N3 Hs.578546 1783430;5022322;5024039;5037552;5116960 D11S2560;D16S325;D8S2279;SHGC-156020;ha2363 C16orf44;FLJ12543 OTTHUMP00000174995;kelch-like 36;kelch-like protein 36 APPROVED protein-coding ENSG00000135686 17844 12675 PROVISIONAL 1349490 KLHL4 kelch-like family member 4 This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] X X X q21.3 87012392 87164729 + 86659465 86811706 + 86772715 86925050 + 1580863;6480464 10888605;18039948;16344560;15772651;14702039;12477932;11499681;11401425;11214970;21145461;18029348 56062 A5PKX1;Q9C0H6 AB051474;ABBA01051900;ABBA01051901;ABBA01051902;ABBA01051903;ABBA01051904;ABBA01051905;ABBA01051906;ABBA01051907;ABBA01051908;ABBA01051909;ABBA01051910;ABBA01051911;ABBA01051912;ABBA01051913;ABBA01051914;AF284765;AF284766;AK022715;AK023057;AK056457;AL035424;AL121884;AL831868;AL832514;AMYH01022672;BC140839;BC140840;BC142652;BC146677;BC161675;CH471104;DB083610;NG_012815;NM_019117;NM_057162;Z95400 AAI40840;AAI40841;AAI42653;AAI46678;AAI61675;AAK49441;AAK49442;BAB14199;BAB14382;BAB21778;BAG51715;CAD38558;CAI46201;EAW98552;EAW98553;NP_061990;NP_476503;Q9C0H6 Hs.49075 1733978;2158946;5017901 DXS262;KLHL4;WI-13626 DKELCHL;KHL4;KIAA1687 OTTHUMP00000023632;OTTHUMP00000023633;kelch-like protein 4 APPROVED protein-coding ENSG00000102271 6355 02283 300348 REVIEWED 5509665 KLHL7-AS1 KLHL7 antisense RNA 1 (head to head) 7 p15.3 23140847 23145322 - 14702039 100775104 AACC02000007;ABBA01056700;AC006039;AK054880;AMYH01017110;CH236948;NR_046220 PLATAK APPROVED miscrna ENSG00000230658 43431 VALIDATED 1313352 KLHL40 kelch-like family member 40 This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012] 3 3 3 p22.1 42667406 42674333 + 42702015 42708942 + 42727011 42733938 + 6480464 14702039;15489334;12477932;23746549 131377 A8K5H9;Q2TBA0 ABBA01024763;AC006059;AI274020;AI659482;AK056577;AK291294;AK300682;AMYH01013115;AW445105;AY176040;AY177390;BC110491;CH471055;NG_033035;NM_152393 AAI10492;AAO06908;AAO22141;BAB71222;BAF83983;BAG62365;EAW64664;EAW64665;NP_689606;Q2TBA0 Hs.350288 1849774;2110473 D3S2783E;KBTBD5_8141 FLJ32015;KBTBD5;MGC125350;NEM8;SRYP;SYRP OTTHUMP00000164040;kelch repeat and BTB (POZ) domain containing 5;kelch repeat and BTB domain-containing protein 5;kelch-like 40;kelch-like protein 40;nemaline myopathy type 8;sarcosynapsin APPROVED protein-coding ENSG00000157119 30372 11058 615340;615348 VALIDATED 1320120 KLHL5 kelch-like family member 5 4 4 4 p14 39484267 39565622 + 38723054 38800224 + 39046451 39127853 + 1580863;6480464 15815621;15489334;14702039;14672410;12477932;11590829;21145461;21900206;22318606 51088 H0Y9Y5;H0YAF6;Q59HD9;Q7Z6D5;Q9NUK3 AA715102;AB208820;ABBA01004117;AC079921;AF272976;AK001698;AK001836;AK002174;AK002175;AK289785;AL049385;AMYH01014117;AY172948;BC010867;BC048262;BC053860;BC058884;BC081562;BQ438207;BX478676;CH471069;DB451501;DR006899;NM_001007075;NM_001171654;NM_015990;NM_199039 AAH48262;AAH53860;AAH58884;AAH81562;AAI60163;AAL08584;AAO39710;BAA91845;BAA91933;BAA92121;BAD92057;BAF82474;EAW92908;EAW92909;EAW92910;EAW92911;EAW92912;EAW92913;EAW92914;NP_001007076;NP_001165125;NP_057074;NP_950240;Q96PQ7 Hs.272251 1653898;1672250;1675037;1687359;1775557;1790243;1797798;2122607;2172986;2176870;5015621;5015961;5021872;5022578;5037552 D11S3732;D15S1477;D1S1423;D8S2279;KLHL5_2058;RH93229;SGC44694;SHGC-24765;SHGC-44694;SHGC-50250;SHGC-59567;SHGC-67763;SHGC-67904;SW919;sY3084 DKFZp586M1418;FLJ11313 OTTHUMP00000123482;OTTHUMP00000123483;OTTHUMP00000123484;OTTHUMP00000218210;OTTHUMP00000218211;kelch-like protein 5;lymphocyte activation-associated protein APPROVED protein-coding 6356 10477 608064 VALIDATED 1348247 KLHL42 kelch-like family member 42 12 12 12 p11.22 33078741 33101539 + 27824454 27847240 + 27933187 27955973 + 6480464 19261606;16713569;16541075;16189514;15489334;14702039;12477932;10718198;19615732;20360068;21139048;21890473;21906983;21145461;21963094;19256485;19295130 57542 B2RNT7;F5H523;H0YGN2;Q9P2K6 AA687307;AB037761;ABBA01068050;ABBA01068051;ABBA01068052;AC009511;AK002197;AK095405;AL118635;AL702640;AMYH01004351;BC028742;BC108669;BC137116;BC137117;BQ218827;BX497104;CA771366;CD521625;CH471094;NM_020782;T83155 AAH28742;AAI08670;AAI37117;AAI37118;ABZ92363;BAA92578;BAG53048;EAW96570;EAW96571;NP_065833;Q9P2K6 Hs.505104 1680020;1686268;1768167;2131141;2137435;2182125 RH44331;RH48843;RH70371;RH80436;RH92079;STS-AA033590 Ctb9;KIAA1340;KLHDC5;MGC131714 OTTHUMP00000240426;cullin-3-binding protein 9;kelch domain containing 5;kelch domain-containing protein 5;kelch-like family, member 42;kelch-like protein 42 APPROVED protein-coding ENSG00000087448 29252 17237 VALIDATED 1316764 KLHL6 kelch-like family member 6 3 3 3 q27.3 181641698 181709843 - 184688013 184756193 - 183205319 183273499 - 1580863;6480464 15489334;15342556;14702039;12617994;12477932;11214971;19850743;21906983;22505724 89857 Q8WZ60;Q9H7N9 ABBA01058478;AC069211;AC092960;AF441792;AK024439;AK097125;AK314473;AL833667;AMYH01013708;BC032348;BP284594;BX648370;CH471052;NM_130446 AAH32348;AAL35594;ABM85714;ABW03726;BAB15729;BAC04957;BAG37078;EAW78323;EAW78324;EAW78325;EAW78326;NP_569713;Q8WZ60 Hs.659147 1337213;1650365;1715979;1748459;1780028;2107251;5015861;5020948;5037552;5109281;5120437;7185938 B318WE9;D10S16;D1S1425;D3S1521;D8S2279;G35510;GDB:315881;KLHL6__7415;RH122732;SHGC-154287;SHGC-64766 FLJ00029 OTTHUMP00000192902;OTTHUMP00000233274;kelch-like 6;kelch-like protein 6;kelch-like protein KLHL6 APPROVED protein-coding ENSG00000172578 18653 10035 614214 VALIDATED 1313665 KLHL7 kelch-like family member 7 This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010] 7 7 7 p15.3 23131633 23201326 + 23111927 23181565 + 23145353 23215040 + 1580863;6480464;7240710 11256614;19520207;16918702;15489334;14702039;12853948;12477932;11230166;9847074;21145461;20547956;18029348;22084217;21828050;21139048;21890473;21906983;20301590;22505724 55975 A8K364;B7Z3P9;B7Z4N7;E5RFN1;F5GYE2;H7C259;Q8IXQ5 AA432360;AACC02000007;ABBA01056700;AC005082;AC006039;AC073992;AF111113;AK056390;AK290479;AK296219;AK297369;AK297421;AK297595;AK299006;AL136597;AMYH01017110;AY028802;BC009555;BC039585;BG704835;CH236948;CH471073;DC370850;EF560731;NG_016983;NM_001031710;NM_001172428;NM_018846;NR_033328;NR_033329 AAF27196;AAH09555;AAH39585;AAK29099;AAO21916;ABQ59041;ACE86550;ACE86588;ACE87231;ACE87822;ACT64372;BAB71175;BAF83168;BAH12285;BAH12563;BAH12577;BAH12623;BAH12925;CAB66532;EAL24261;EAW93770;EAW93771;EAW93772;EAW93773;EAW93774;NP_001026880;NP_001165899;NP_061334;Q8IXQ5 Hs.654817 1340676;1668061;1723777;2115565;2141883;2157617;2157619;2219864 A005Y34;D15S130;G20603;KLHL7__6340;RH118626;RH45387;RH46047;SHGC-33150 KLHL6;RP42;SBBI26 OTTHUMP00000202014;OTTHUMP00000202033;OTTHUMP00000202036;kelch-like 6;kelch-like 7;kelch-like protein 7;kelch/BTB APPROVED protein-coding ENSG00000122550 15646 13927 611119;612943 REVIEWED 1347061 KLHL9 kelch-like family member 9 9 9 9 p22 21269331 21273742 - 21321018 21325429 - 21331018 21335429 - 1580863;6480464;6907045 21145461;14702039;12477932;10718198;9847074;20574843;17543862;19615732;19995937;20554658;17113583;21139048;21890473;21906983;19295130 55958 Q58EZ4;Q7Z350;Q9P2J3 AB037775;ABBA01065177;AK022805;AK023630;AK025468;AK091715;AL162420;AL713669;AMYH01019275;AY172949;BC039133;BC052776;BC064958;BC105008;BC113513;BX538121;CH471071;DR978657;NM_018847 AAH39133;AAI05009;AAI13514;AAO39718;BAA92592;BAB14623;BAG52403;CAD28475;CAD98027;EAW58614;NP_061335;Q9P2J3 Hs.701778;Hs.710126;Hs.744736 1851342;2134726;2166485;2167277;5015961;5037552 A002T15;D15S1477;D8S2279;RH11920;RH45983;WI-13834 FLJ21815;RP11-380P16.6 OTTHUMP00000021141;kelch-like 9;kelch-like protein 9 APPROVED protein-coding 18732 13929 611201 VALIDATED 1312275 KLHL8 kelch-like family member 8 4 4 4 q22.1 85371231 85430685 - 88301238 88360698 - 88082214 88141674 - 1580863;6480464 21145461;16713569;16381901;15489336;15489334;12477932;12168954;11230166;11076863;10718198;19615732;20800603;23568457;21890473;21906983;20686565;19322201;22505724 57563 D6RGH5;Q49A95;Q68DU9;Q6N018;Q7Z330;Q9P2G9 AB037799;ABBA01063525;ABBA01063526;ABBA01063527;AC092658;AK128827;AMYH01014374;BC041370;BC041384;BC041901;BX538173;BX640727;BX640744;BX647454;BX648367;CH471057;CR749265;NM_020803 AAH41384;AAH41901;BAA92616;BAG54740;CAD98048;CAE45843;CAE45855;CAH18121;CAL38560;EAX05982;EAX05983;EAX05984;NP_065854;Q9P2G9 Hs.106601 2130980;2140647;2150866;2177495;5016478;5020740;5020948;5022200;5022322;5022578;5024039;5024413 D11S2560;D16S325;D1S1423;G35510;GDB:434012;HSC1NA012;L17809;L17877;L18426;RH18307;RH48469;SHGC-50512 FLJ46304;KIAA1378 OTTHUMP00000161167;OTTHUMP00000219456;OTTHUMP00000219457;OTTHUMP00000219459;kelch-like 8;kelch-like protein 8 APPROVED protein-coding ENSG00000145332 18644 13928 611967 VALIDATED 1349866 KLK1 kallikrein 1 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008] 19 19 q13.3 56014216 56018855 - 51322404 51327043 - 1581753;1581751;1581752;1641802;1641805;1641800;1641797;1641812;1580863;1641794;1358144;1641806;1641795;1641799;6480464;7240710 11849458;15167446;15086490;15117887;12770935;17015177;17137568;10604522;17272402;15809361;12746231;15905889;17022964 16800723;16465461;16129698;15855348;15765151;15662224;15651049;15611141;15544850;15489334;15364809;14988406;14660481;12887060;12670744;12581867;12492488;12477932;12372819;11913965;11912256;11727832;11258672;11130770;11054574;11016932;11006094;10862973;9857240;9368023;9276160;7916636;7749374;7733886;7492318;3853975;3635530;3163150;3004571;2898948;2666327;1783409;1691151;1684954;1385301;16957554;393608;16800724;2686621;19232384;19082699;18844446;18725990;18713009;18689794;18627303;18577888;18402547;18359858;18327081;18283336;18182238;17804733;17762646;17761919;17699431;17671125;17158887;17050061;19913121;20613781;20628086;18344018;19423540;19558318;19578768;20143645;20225398;20406964;20424135;20438785;20516044;20533273;7749372;20482314;21164105;21211543;20536386;21823154;21571276;21200088;21679467;15342556 3816 F8WAM8;M0R318;P06870 ABBA01068295;ABBA01068296;ABBA01068297;AC010325;AF243527;AF277050;AMYH01009945;AMYH01009946;AY094609;AY429508;AY703451;BC005313;BP323011;BT007253;CA772631;CH471135;L10038;M12706;M25629;M33105;M33109;NG_012094;NM_002257;S77952;X13561 AAA36135;AAA36136;AAA59201;AAA59455;AAB34120;AAF86333;AAG33353;AAH05313;AAM11874;AAP35917;AAR10467;AAU12569;ABM83998;ABM87327;CAA31912;EAW71912;EAW71913;EAW71914;NP_002248;P06870 Hs.123107 1685091 RH80224 KLKR;Klk6;hK1 glandular kallikrein 1;kallikrein 1, renal/pancreas/salivary;kallikrein serine protease 1;kallikrein-1;kidney/pancreas/salivary gland kallikrein;tissue kallikrein APPROVED protein-coding ENSG00000167748 6357 01003 147910 REVIEWED 1319061 KLK12 kallikrein-related peptidase 12 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 48584407 48590207 - 56224160 56229960 - 51532348 51538148 - 6480464 11054574;15300858;17391064;16800724;16800723;15057824;12975309;12477932;11056051;11006094;10969073;10675891;10652563;22351561;20424135;21628462;21439340 43849 E9PPC6;E9PR22;Q49AM7;Q9UKR0 ABBA01068284;AC011473;AF135025;AF243527;AMYH01009949;AY358524;BC035385;BC136341;BC143988;BC143990;BC143991;BX648580;CH471135;NM_019598;NM_145894;NM_145895 AAD26426;AAF06065;AAF06066;AAG23258;AAG33365;AAH35385;AAI36342;AAQ88888;EAW71973;EAW71974;EAW71975;EAW71976;EAW71977;EAW71978;NP_062544;NP_665901;NP_665902;Q9UKR0 Hs.411572 2108193 KLK12_8032 DKFZp686H1078;KLK-L5;KLKL5;MGC42603 OTTHUMP00000231022;OTTHUMP00000231025;OTTHUMP00000238046;kallikrein 12;kallikrein-12;kallikrein-like protein 5 APPROVED protein-coding ENSG00000186474 6360 05705 605539 REVIEWED 1318477 KLK14 kallikrein-related peptidase 14 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. An additional transcript variant has been described but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.3-q13.4 56272966 56279314 - 51581154 51587502 - 1580863;6480464 10969073;19383315;19147544;18627302;18497543;18482984;18056261;17625593;17158887;17110383;16800737;16800724;16800723;16434994;15843175;15654974;15057824;12858357;12477932;12439719;11352573;11309303;16885167;19558318;20155713;20424135;21057706;22505522;22505523;22505524 43847 Q9P0G3 ABBA01068280;AC011473;AF161221;AF283669;AF283670;AMYH01009950;BC074904;BC074905;BC114614;CH471135;NM_022046 AAD50773;AAG23260;AAH74904;AAH74905;AAI14615;AAK48523;AAK48524;EAW71982;EAW71983;NP_071329;Q9P0G3 Hs.283925 KLK-L6 OTTHUMP00000184888;OTTHUMP00000184889;hK14;kallikrein 14;kallikrein-14;kallikrein-like protein 6 APPROVED protein-coding ENSG00000129437 6362 05844 606135 VALIDATED 1318610 KLK11 kallikrein-related peptidase 11 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in multiple transcript variants encoding distinct isoforms which are differentially expressed.[provided by RefSeq, Nov 2009] 19 19 q13.33 56217299 56223102 - 51525487 51531290 - 6480464 19383315;19190824;18515984;16911518;16800740;16800724;16800723;15893744;15489334;15329323;15102682;15057824;12975309;12845660;12736044;12539228;12477932;11782391;11550212;11054574;10872828;10662548;9765601;19184568;19242826;19560453;20424135;17207965;21520985;21618246;22429520 11012 M0QYW4;M0QZI8;M0QZV0;M0R151;Q9UBX7 AB012917;AB013730;AB041036;AB078780;AB259014;AB261897;ABBA01068284;AC011473;AF164623;AF243527;AK308207;AMYH01009949;AY359014;BC015551;BC022068;BG697071;CH471135;NM_001136032;NM_001167605;NM_006853;NM_144947 AAD47815;AAG23257;AAG33364;AAH22068;AAQ89373;ADQ31834;BAA33404;BAA88713;BAA96797;BAC54105;BAE95335;BAF02733;EAW71970;EAW71971;EAW71972;NP_001129504;NP_001161077;NP_006844;NP_659196;Q9UBX7 Hs.57771 1698768;2108193;2174348;2217528;5022200 KLK11_3539;KLK12_8032;L18426;RH102947;SHGC-57422 MGC33060;PRSS20;TLSP hK11;hippostasin;kallikrein 11;kallikrein-11;protease, serine, 20 trypsin-like;protease, serine, trypsin-like;serine protease 20;trypsin-like protease APPROVED protein-coding ENSG00000167757 6359 05114 604434 REVIEWED 1606032 KLK10 kallikrein-related peptidase 10 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 19 19 q13 56207812 56215243 - 51516000 51523431 - 2314845;2314846;2314847;2314848;2314849;2314851;2314850;6480464 19150938;18766180;17585892;16647913;12788170;11920956;12087468 8764136;19383315;19085836;19064572;18855978;18854834;18515984;17937626;17182177;16928223;16800740;16800735;16800732;16800724;16800723;16341674;16254462;16103744;15489334;15057824;14972646;14696124;12970725;12477932;12185203;11705853;11054574;10969073;10675891;9809976;9647736;9533035;8889548;16169070;22437349;20686372;19558318;19560453;19760608;20086175;20424135;21487810;20680316;22102857;21988832;22874102 5655 M0R132;M0R2S4;O43240 ABBA01068285;ABBA01068286;AC011473;AF024605;AF055481;AF243527;AK292365;AK309456;AMYH01009949;AY561634;AY561635;BC002710;BM830577;BU685208;CH471135;CR450327;GN341816;NM_001077500;NM_002776;NM_145888 AAB81602;AAC14266;AAG23256;AAG33363;AAH02710;AAS66975;AAS66976;ABM81676;ABM84843;BAF85054;CAG29323;CAY39327;EAW71967;EAW71968;EAW71969;NP_001070968;NP_002767;NP_665895;O43240 Hs.275464 2124197;5022200;5022651;5037552 D11S2921;D8S2279;L18426;RH48452 NES1;PRSSL1 breast normal epithelial cell associated serine protease;kallikrein 10;kallikrein-10;normal epithelial cell-specific 1;protease serine-like 1;protease, serine-like, 1 APPROVED protein-coding ENSG00000129451 6358 04054 602673 REVIEWED 1319630 KLK13 kallikrein-related peptidase 13 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.33 56251275 56260179 - 51559463 51568367 - 1580863;2314862;2314865;6480464 19707197;12970725 10675891;14687906;10766816;12642628;18627302;16847813;16800724;16800723;15489334;15381110;15057824;12925213;12477932;11986781;11848466;11054574;11006094;21596022;17922479;19558318;20424135;17207965;20678496;22948777;21439340;21689719 26085 M0R218;Q5BQ95;Q5BQ97;Q86VI7;Q86VI8;Q9UKR3 AB108823;AB108824;AB451465;ABBA01068280;ABBA01068281;AC011473;AF135024;AL050220;AMYH01009950;AY923171;AY923172;AY923173;AY923174;AY923175;BC069334;BC069543;CH471135;EU091477;NM_015596 AAD26425;AAG23259;AAH69334;AAH69543;AAX30052;AAX30053;AAX30054;AAX30055;AAX30056;ABU63130;ADQ32940;BAC75825;BAC75826;BAG70279;CAB43320;EAW71979;EAW71980;EAW71981;NP_056411;Q9UKR3 Hs.165296 1683024;2217530 KLK13_3571;RH92090 DKFZp586J1923;KLK-L4;KLKL4 kallikrein 13;kallikrein-13;kallikrein-like gene 4;kallikrein-like protein 4 APPROVED protein-coding 6361 05693 605505 REVIEWED 1322213 KLK15 kallikrein-related peptidase 15 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.41 56020357 56026591 - 51328545 51334779 - 6480464 11010966;16800724;16800723;15489334;14759258;12915603;12477932;12439720;11901813;11327827;11054574;11006094;10675891;8018728;19423540;19823874;19902474;20067463;20406964;20424135;20438785;20460480;20473923;19913121;20628086;17207965;21457553;22132073;19819870;22505514;23391636 55554 M0QX22;M0R0D7;M0R2F7;Q6ISI0;Q6UBM2;Q96RQ0;Q9H2R5 ABBA01068295;AC010325;AF242195;AF243527;AF303046;AMYH01009946;AW205420;AY373373;AY373374;BC069480;BC069507;BC069518;BC126137;BC144045;BC144046;BC144047;CH471135;NG_029894;NM_001277081;NM_001277082;NM_017509;NM_138563;NM_138564;NR_102274;X75363 AAG09469;AAG09470;AAG09471;AAG09472;AAG33354;AAH69480;AAH69507;AAH69518;AAI26138;AAI44047;AAK62813;AAQ82620;AAQ82621;ADQ32882;ADR82887;CAA53145;EAW71915;EAW71916;EAW71917;EAW71918;EAW71919;EAW71920;EAW71921;NP_001264010;NP_001264011;NP_059979;NP_612630;NP_612631;Q9H2R5 Hs.567535 ACO;HSRNASPH ACO protease;kallikrein 15;kallikrein-15;kallikrein-like serine protease;prostinogen APPROVED protein-coding ENSG00000174562 20453 07490 610601 REVIEWED 1346385 KLK2 kallikrein-related peptidase 2 This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012] 19 19 q13.41 56068501 56075635 + 51376689 51383823 + 1580863;6480464 10463585;19434652;19372141;19318432;19223501;19003994;18567807;18451133;17657743;17593395;17257635;17085659;16800724;16800723;16388506;16344560;16152616;15643194;15542435;15489334;15203212;15057824;12805332;12477932;12209605;12124798;11834722;11745444;11358513;11130770;11054574;10991942;10969073;10773882;10544017;10411640;10391209;10386814;10209959;10197620;9428387;9368023;9042371;2824146;2468530;14759258;1783409;1726490;9016396;19913121;20620409;20628086;19423540;19558318;19823874;19902474;20406964;20424135;20438785;20460480;21071540;21178268;21832049;9759557;22435954;23359319 3817 B4DU77;M0QXQ7;M0R0M2;M0R0M4;M0R1T3;M0R2W5;P20151;Q6T774 ABBA01068295;AC037199;AF188745;AF188746;AF188747;AF243527;AF336106;AK300527;AK300549;AK300566;AK309968;AK309969;AK309973;AK309982;AK309985;AK315890;AMYH01009946;AY429509;AY429510;BC005196;BT006650;BX641830;CH471135;DA865689;M18157;NG_031984;NM_001002231;NM_001256080;NM_005551;NR_045762;NR_045763;S39329 AAA74454;AAD13816;AAD13817;AAF08275;AAF08276;AAF08277;AAG33356;AAH05196;AAL73209;AAP35296;AAR10468;AAR10469;ABM81598;ABM84779;BAF98781;BAG62239;BAG62255;BAG62272;EAW71937;EAW71938;EAW71939;EAW71940;EAW71941;EAW71942;NP_001002231;NP_001243009;NP_005542;P20151 Hs.515560 2125075;2183457 RH71453;STS-S39329 FLJ17010;FLJ17011;KLK2A2;MGC12201;hGK-1;hK2 glandular kallikrein 2;glandular kallikrein-1;hGK-1;kallikrein 2, prostatic;kallikrein-2;tissue kallikrein-2 APPROVED protein-coding ENSG00000167751 6363 01006 147960 REVIEWED 1343198 KLK3 kallikrein-related peptidase 3 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.41 56049983 56055832 + 51358171 51364020 + 1580863;2301715;6480464;6484113;6907045;7240710 10069662 21826098;22209970;22403723;16425097;16424004;16398402;16365023;16302261;16247489;16172228;16172196;16152616;16091872;16004602;15936010;15893813;15680901;15599941;15563730;15543614;15531881;15489334;15389580;15350307;15340161;15233555;15203212;15050736;15017213;15014041;14761877;14696124;14693733;14643026;14627807;14607215;14584757;12970746;12970732;12949939;12865450;12782640;12626390;12589022;12496487;12477932;12398228;12376473;12362977;12210484;12209605;12168876;12124798;12111704;12032296;11909978;11839651;11834722;11784334;11735417;11502200;11391681;11342264;11327827;11317942;11299734;11054574;11027412;11017939;10969073;10759471;10646852;10604721;10511594;10374881;10218588;9857240;9751643;9261179;9146608;9092810;9062481;9016396;8849579;8843739;8753751;8732755;8683730;8665956;8583572;7539415;7538844;7535613;7527295;7521173;7509746;3691515;2472789;2471958;2470553;2470373;2467258;2466464;2458104;2456523;2436946;2422647;1702714;1383255;15542435;15829968;16472761;10675891;18029348;14718574;19440015;19440014;19440011;19434657;19434652;19414393;19380444;19318432;19250630;19159616;19155468;19152248;19126541;19116992;19109947;19108411;19095061;19032406;19003994;18977589;18827812;18794092;18768516;18722876;18645681;18645024;18627304;18627292;18619642;18535354;18516323;18515984;18500692;18495332;18491956;18446367;18440312;18431597;18427570;18402773;18356135;18336535;18306354;18264097;18245536;18222179;18202763;18187150;18061650;17987534;17961073;17894328;17721809;17721190;17718721;17657743;17641982;17635240;17593395;17507624;17440964;17426252;17394194;17387315;17257635;17151093;17094454;16934957;16859836;16800724;16800723;16775173;16774685;16741919;16708371;16699296;16675575;16581345;22597536;22653589;21889270;19107370;20558981;20616526;21160077;20863373;21278686;19450995;20947244;15174051;19399601;19489685;19542190;19558318;19659608;19690023;19705489;19729499;19823874;19855435;19902474;19937596;20086117;20099974;20215802;20218317;20228531;20424135;20432434;20460480;21189143;20673345;20180647;20299777;20435461;20726802;19913121;20564319;20628086;20632874;20800603;21071540;19375843;19682790;21189374;20606402;20948186;20962505;21422628;21212412;21056970;21421545;23040885;21333366;20933321;21318478;21465221;21584487;1725227;21482022;22549899;21542994;21787114;22433834;22627168;21858228;22199313;22239030;21731703;20189847;22705054;21652145;21661042;21791361;21843902;21934292;22019475;22037582;22232548;21862205;21956655;22103356;22796946;23169475;23235975;23269536;23345509;23544270;23315126;22528335;22901566;23246478;22325447;22921964 354 M0QX57;M0QZF9;M0R1F0;M0R1Z7;M0R294;P07288;Q546G3;Q8WTQ8 ABBA01068295;AC011523;AF243527;AF335477;AF335478;AJ310937;AJ310938;AJ459782;AJ459783;AJ459784;AJ512346;AK312933;AMYH01009946;AX772834;BC005307;BC050595;BC056665;BF679511;BQ932072;BT019862;CH471135;DQ641251;M21895;M21896;M21897;M24543;M26663;M27274;NG_011653;NM_001030047;NM_001030048;NM_001030050;NM_001648;S75755;U17040;X05332;X07730;X13940;X13941;X13942;X13943;X13944;X14810;X75682 AAA56764;AAA58802;AAA59995;AAA59996;AAA59997;AAA60192;AAA60193;AAD14185;AAG33355;AAH05307;AAH50595;AAH56665;AAL73204;AAL73205;AAV38665;ABM81596;ABM84777;BAG35776;CAA28947;CAA32123;CAA32124;CAA32126;CAA32127;CAA32915;CAB46487;CAC41631;CAC41632;CAD30844;CAD30845;CAD30846;CAD54617;CAE06266;EAW71922;EAW71923;EAW71924;EAW71925;EAW71926;EAW71927;EAW71928;EAW71929;EAW71930;EAW71931;EAW71932;EAW71933;EAW71934;EAW71935;EAW71936;NP_001025218;NP_001025219;NP_001025221;NP_001639;P07288 Hs.171995 1669903;1793558;1793562;1793784;1793788;2125087;2183990;2218558;2220252 D19S1013;KLK3;KLK3_4329;PMC230325P1;PMC230325P3;PMC290276P2;PMC290276P4;RH17676;RH70617 APS;KLK2A1;PSA;hK3 P-30 antigen;gamma-seminoprotein;kallikrein 3, (prostate specific antigen);kallikrein-3;prostate specific antigen;prostate-specific antigen;semenogelase;seminin APPROVED protein-coding ENSG00000142515 6364 01461 176820;612423 REVIEWED 1353266 KLK4 kallikrein-related peptidase 4 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Alternate splice variants for this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 19 19 q13.41 56101420 56105806 - 51409608 51413994 - 1580863;2314853;2314856;2314857;2314852;2314854;6480464;7240710 18687310;15262123;12370833;19190825;17545602 10438493;10077646;19372141;18714142;18567807;18308730;18221492;17221837;16800736;16800724;16800723;16704423;16497155;16322328;16172196;15489334;15235027;15059887;15057824;12477932;12077288;11735417;11506707;11327827;11258672;11124349;11054574;10863090;10575207;10485467;9465170;20180634;20406994;15862967;19423540;19795418;19966041;20009893;20056842;20406964;20424135;20438785;20460480;17207965;21874303;23201139;23355523;23251661;22970239 9622 M0QYN5;Q5BQA0;Q96RU5;Q9Y5K2 ABBA01068294;AC011483;AF113140;AF113141;AF126401;AF135023;AF148532;AF228497;AF243527;AF259964;AF259965;AF259966;AF259967;AF259968;AF259969;AF259970;AF259971;AF464755;AMYH01009947;AY923170;BC069325;BC069403;BC069429;BC069489;BC096175;BC096176;BC096177;BC096178;CH471135;NG_012154;NM_004917 AAD21580;AAD21581;AAD26424;AAD38019;AAF70620;AAF81227;AAG33357;AAG43246;AAH69325;AAH69403;AAH69429;AAH69489;AAH96175;AAH96176;AAH96177;AAH96178;AAK71700;AAK71701;AAK71702;AAK71703;AAK71704;AAK71705;AAK71706;AAL14780;AAL14781;AAL14782;AAQ04828;AAX30051;ADQ32870;EAW71943;EAW71944;EAW71945;NP_004908;Q9Y5K2 Hs.218366 1792726 PMC15904P1 AI2A1;ARM1;EMSP;EMSP1;KLK-L1;MGC116827;MGC116828;PROSTASE;PRSS17;PSTS;kallikrein androgen-regulated message 1;enamel matrix serine protease 1;enamel matrix serine proteinase 1;kallikrein-4;kallikrein-like protein 1;prostase;serine protease 17 APPROVED protein-coding ENSG00000167749 6365 04793 204700;603767 REVIEWED 1320514 KLK5 kallikrein-related peptidase 5 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 19 19 q13.33 56138371 56148156 - 51446559 51456344 - 1580863;6480464 12975309;10608802;11054574;10514489;19453546;19383346;19190824;19118981;19085836;18221492;18163887;17881000;17625593;17459052;17158887;17012259;16800723;16628198;16517595;15766562;15713679;15675955;15654974;15489334;15140227;12890555;12738725;12477932;12385949;11948967;11237385;10969073;10675891;10652563;8125298;16885167;19194479;19558318;19560453;19820362;20090765;20424135;21163944;21868565;21273346;21139048;22102857;22505519 25818 M0QXX2;Q9Y337 ABBA01068291;ABBA01068292;AC011483;AF135028;AF168768;AF243527;AF435980;AF435981;AK223421;AMYH01009947;AY279380;AY279381;AY359010;AY461805;BC008036;BT006867;CH471135;NM_001077491;NM_001077492;NM_012427 AAD26429;AAF03101;AAG33358;AAH08036;AAN63606;AAN63607;AAP35513;AAP42275;AAP42276;AAQ89369;AAR23814;ABM81603;ABM84784;BAD97141;EAW71946;EAW71947;EAW71948;EAW71949;EAW71950;EAW71951;EAW71952;NP_001070959;NP_001070960;NP_036559;Q9Y337 Hs.50915 1773509;2217532 KLK5_3564;SHGC-56840 KLK-L2;KLKL2;SCTE kallikrein 5;kallikrein-5;kallikrein-like protein 2;stratum corneum tryptic enzyme APPROVED protein-coding ENSG00000167754 6366 05732 605643 REVIEWED 736738 KLK6 kallikrein-related peptidase 6 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. The encoded enzyme is regulated by steroid hormones. In tissue culture, the enzyme has been found to generate amyloidogenic fragments from the amyloid precursor protein, suggesting a potential for involvement in Alzheimer's disease. Multiple alternatively spliced transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.3 56153699 56164741 - 51461887 51472929 - 1358599;1358604;1358596;1580863;1358597;2314866;2314855;2314863;2314864;2314865;2314867;6480464 12074831;12480753;12023317;12928483;16987227;17303231;18992199;16340244;12970725;11802715 12709365;12878203;12589961;11668196;12016211;19383923;19088065;18957059;18854834;18627290;18359858;17158887;16800739;16800724;16800723;16341674;16321973;16203767;15867230;15837738;15627893;15584920;15557757;15489334;15255184;15207701;12477932;12232761;11983703;11054574;10610719;9312124;9003450;8898378;14696124;22699826;22373580;19950700;20680316;21753781;16885167;19423540;19558318;19560453;19707197;20406964;20424135;20438785;20836755;20403393;20846516;21193224;21656738;21464892;19426157;22477710;22508489;22285222;22102857;22505518;22505521;23049835;23136250;22874102;23308173 5653 E7ETY0;M0QYA5;Q92876 ABBA01068287;ABBA01068288;ABBA01068289;ABBA01068290;AC011483;AF013988;AF149289;AF243527;AK314897;AMYH01009948;AY279383;AY318867;AY318868;AY318869;AY318870;AY457039;BC015525;BM763657;BT006852;CH471135;D78203;DQ223012;GN341818;NG_011825;NM_001012964;NM_001012965;NM_002774;U62801 AAB07113;AAB66483;AAD51475;AAG33359;AAH15525;AAP35498;AAP82446;AAP82448;AAR23148;ABB04464;ABM84474;ABM84771;BAA11306;BAG37411;CAY39328;EAW71953;EAW71954;EAW71955;EAW71956;EAW71957;NP_001012982;NP_001012983;NP_002765;Q92876 Hs.79361 1695988;1851815;2110479 KLK6_3416;SHGC-82735;WI-20869 Bssp;Klk7;MGC9355;NEUROSIN;PRSS18;PRSS9;SP59;ZYME;hK6 kallikrein 6;kallikrein-6;neurosin;protease M;serine protease 18;serine protease 9;zyme APPROVED protein-coding ENSG00000167755 6367 04037 602652 REVIEWED 1602787 KLKP1 kallikrein pseudogene 1 19 19 19 q13.41 48436426 48450726 - 56077164 56091466 - 51385352 51399654 - 18196551;16541416;15498522;20103546;23359319 606293 Q107X0 ABBA01068295;AC011483;AC037199;AF355199;AF464754;AMYH01009946;AY302756;AY533562;DQ086829;DQ086830;DQ211698;NR_002948 AAQ04827;AAQ15170;AAZ78651;AAZ78652;Q107X0 Hs.643424 KARMA;KLK31P;KRSP1;PsiKLK1;YKLK1 pseudo ENSG00000197588 21260 PROVISIONAL 5013846 KLLN killin, p53-regulated DNA replication inhibitor The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012] 10 10 q23 83365399 83369675 - 89618918 89623194 - 6480464 15146197;18385383;21177507;21584899;21956414;22580995 100144748 B2CW77 ABBA01021960;AC063965;AMYH01002932;EU552092;NG_007466;NG_033079;NM_001126049 ACB45456;B2CW77;NP_001119521 Hs.559820 1699140;1789116;1853828;2162662;5022578;5022651 D11S2921;D1S1423;G65727;RH103146;STS-AA021529;WI-18385 CWS4;KILLIN killin protein-coding ENSG00000227268 37212 612105;615107 REVIEWED 1315024 KLK7 kallikrein-related peptidase 7 This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 2011] 19 19 q13.41 56171541 56178962 - 51479735 51487320 - 6480464 8034709;19091121;19085836;18976018;18953252;18774391;18343220;18329042;18325919;18163887;17989887;17909180;17012259;16800724;16800723;16628198;15766562;15675955;15489334;15297163;15191543;15140227;14972646;14691584;12738725;12477932;11054574;10974542;7794273;19118981;19350120;19423540;19453546;19558318;19921697;20090765;20406964;20424135;20438785;20544292;20944116;16344560;8889549;17275179;20332224;20665732;21168996;21520985;8393902;22573795;21616098;21832049;23495698;21868565;21548205;22521249;21139048;22118674;22825846 5650 A8K0U5;B4DHX9;M0QYU8;P49862 A42048;AA101043;ABBA01068286;AC011483;AF166330;AF243527;AF332583;AF411214;AF411215;AI049783;AK289660;AK295313;AMYH01009949;AY601109;AY646152;BC032005;CH471135;CQ785390;DA243628;DA307925;DQ018784;L33404;NM_001207053;NM_001243126;NM_005046;NM_139277 AAC37551;AAD49718;AAG33360;AAH32005;AAK69624;AAN03662;AAN03663;AAT66047;AAU04540;AAY97797;ABM81672;ABM84842;BAF82349;BAG58291;CAA02644;CAG17626;EAW71958;EAW71959;EAW71960;EAW71961;NP_001193982;NP_001230055;NP_005037;NP_644806;P49862 Hs.151254 1852416;2107253 D19S1082;KLK7_7860 PRSS6;SCCE;hK7 hK7;hSCCE;kallikrein 7 (chymotryptic, stratum corneum);kallikrein-7;protease, serine, 6;serine protease 6;signal protein;stratum corneum chymotryptic enzyme APPROVED protein-coding ENSG00000169035 6368 05115 604438 REVIEWED 1314360 KLK8 kallikrein-related peptidase 8 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 19 19 q13 56191076 56196770 - 51499264 51504958 - 6480464 12975309;16337200;19125171;19085836;18354391;17487847;17178872;16800733;16800724;16800723;15282331;15138549;15057824;14749636;12477932;11309326;11054574;10969073;10485494;10102990;9714609;17761692;19194479;19558318;20424135;17207965;20360129;20614312;20940292;22505524;16341674;7566098;21988832 11202 M0R231;M0R390;Q9UQ47 AA320217;AA587273;AB008390;AB008927;AB009849;AB010780;AB012761;ABBA01068286;AC011473;AC011483;AF095742;AF095743;AF243527;AF251125;AMYH01009949;AY359036;AY563055;AY563056;AY563057;AY563058;AY563059;AY563060;AY563061;AY563062;AY563063;AY563064;AY563065;AY563066;AY563067;BC040887;BM845575;CH471135;EU350538;EU350539;NM_001281431;NM_007196;NM_144505;NM_144506;NM_144507;NR_104008 AAD25979;AAD29574;AAF79144;AAF79145;AAG23254;AAG33361;AAQ89395;AAT76913;AAT76914;AAT76915;AAT76916;AAT76917;AAT76918;AAT76919;AAT76920;AAT76921;AAT76922;AAT76923;AAT76924;AAT76925;AAT76926;AAT76927;AAT76928;AAT76929;AAT76930;AAT76931;AAT76932;AAT76933;AAT76934;AAT76935;AAT76936;AAT76937;AAT76938;ACB05869;ACB05870;ADQ33103;BAA28673;BAA28676;BAA82665;BAA82666;BAA88684;EAW71962;EAW71963;EAW71964;NP_001268360;NP_009127;NP_653088;NP_653089;NP_653090;O60259 Hs.104570 2217534 KLK9_3646 HNP;NP;NRPN;PRSS19;TADG14 KLK8 protein type 1;KLK8 protein type 2;hK8;kallikrein 8 (neuropsin/ovasin);kallikrein-8;neuropsin type 1;neuropsin type 2;ovasin;serine protease 19;serine protease TADG-14;tumor-associated differentially expressed gene 14 protein APPROVED protein-coding ENSG00000129455 6369 05733 605644 REVIEWED 1346640 KLRC3 killer cell lectin-like receptor subfamily C, member 3 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 12 12 12 p13 15726778 15735055 - 10456181 10464461 - 10564914 10573194 - 1580863;6480464;6907045 9683661;11751968;10201920;9598306;8943374;8276468 3823 J3KPJ5;Q07444 ABBA01067805;AC022075;AC068775;AF027164;AF078550;AF350016;AF350017;AF461157;AJ001685;AMYH01004277;AMYH01004278;CH471094;L14542;NG_029682;NM_002261;NM_007333 AAA16833;AAC17490;AAD46108;AAI60065;AAK83803;AAK83804;AAL65232;CAA04923;EAW96184;EAW96185;EAW96186;NP_002252;NP_031359;Q07444 Hs.654362 1729139;1851785;2154607 D12S1967;G63927;STS-L14542 NKG2-E;NKG2E NK cell receptor E;NKG2-E type II integral membrane protein;NKG2-E-activating NK receptor;OTTHUMP00000235359;OTTHUMP00000235362 APPROVED protein-coding ENSG00000205810 6376 04203 602892 REVIEWED 1317964 KLK9 kallikrein-related peptidase 9 The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010] 19 19 19 q13.41 48557813 48564935 - 56197581 56204702 - 51505769 51512890 - 1580863;6480464 11691797;11054574;16800724;16800723;15057824;10652563;10783266;12477932;20424135;21832049 284366 Q2XQG6;Q6QA55;Q9UKQ9 ABBA01068286;AC011473;AF135026;AF243527;AMYH01009949;AY551001;CH471135;CS300780;NG_027832;NM_012315 AAD26427;AAG22845;AAG23255;AAG33362;AAI40230;AAI41614;AAI72590;AAS55655;CAK32444;EAW71965;EAW71966;NP_036447;Q9UKQ9 Hs.448942 2217534 KLK9_3646 KLK-L3;KLK8;KLKL3;MGC50513 kallikrein 9;kallikrein-9;kallikrein-like protein 3 APPROVED protein-coding ENSG00000213022;ENSG00000269741 6370 05692 605504 REVIEWED 1345877 KLRAP1 killer cell lectin-like receptor subfamily A pseudogene 1 12 12 p13.2 10632344 10643701 - 10741077 10752434 - 1580863;6480464 18426793;16492762;16344560;15146197;12477932;10783260;10369937;9645365;10457220;19929986;20237496;20379614;17207965;12077248;16132082;21335486;21632721;9830044 10748 Q9UNG0 ABBA01067806;AC021049;AF047445;AF126037;AK290077;AK296103;AK304677;AK310151;AMYH01004280;AY334570;BC069672;BC069697;BC069734;BC101471;BC101473;BX950927;CH471094;CN269037;DA776936;NR_028045 AAC35898;AAD44160;AAH69672;AAH69697;AAH69734;AAI01472;AAI01474;AAP94733;ADQ32950;BAF82766;BAG58854;BAG65449;EAW96193;EAW96194;EAW96195 Hs.159297 5022651 D11S2921 KLRA#;KLRA1;LY49L;Ly-49L;Ly49;MGC126520;MGC126522 APPROVED pseudo ENSG00000256667 6372 09180 604274 VALIDATED 1345828 KLRE1 killer cell lectin-like receptor family E member 1 3825 6379 1343225 KLRB1 killer cell lectin-like receptor subfamily B, member 1 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008] 12 12 p13 9639137 9651764 - 9747870 9760497 - 1580863;6480464;6907045 8077657;19273624;18663128;18550855;18453569;18219672;18159636;16925668;16455998;16339513;16339512;15489334;14990792;12858173;12477932;12100027;10458753;10229828;9603467;9394825;9341779;9218532;8647203;14987913;20359956;19506219;19711124;19834503;20133607;20237496;20486123;20800424;21570678;22833233;21572041;21610746;21909091;21930700;23355538;23599932 3820 Q12918 ABBA01067793;AC006432;AK292022;AMYH01004275;BC027885;BC113997;BC114516;BF432813;CH471094;NM_002258;U11276 AAA21605;AAI13998;AAI14517;BAF84711;EAW96108;NP_002249;Q12918 Hs.169824 1665923 WI-14040 CD161;CLEC5B;MGC138614;NKR;NKR-P1;NKR-P1A;NKRP1A;hNKR-P1A C-type lectin domain family 5 member B;OTTHUMP00000239069;killer cell lectin-like receptor subfamily B member 1;natural killer cell surface protein P1A APPROVED protein-coding 6373 04201 602890 REVIEWED 736915 KLKB1 kallikrein B, plasma (Fletcher factor) 1 Plasma prekallikrein is a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. It is synthesized in the liver and secreted into the blood as a single polypeptide chain. Plasma prekallikrein is converted to plasma kallikrein by factor XIIa by the cleavage of an internal Arg-Ile bond. Plasma kallikrein therefore is composed of a heavy chain and a light chain held together by a disulphide bond. The heavy chain originates from the amino-terminal end of the zymogen and contains 4 tandem repeats of 90 or 91 amino acids. Each repeat harbors a novel structure called the apple domain. The heavy chain is required for the surface-dependent pro-coagulant activity of plasma kallikrein. The light chain contains the active site or catalytic domain of the enzyme and is homologous to the trypsin family of serine proteases. Plasma prekallikrein deficiency causes a prolonged activated partial thromboplastin time in patients. [provided by RefSeq, Jul 2008] 4 4 q35 187385666 187416619 + 187148672 187179625 + 1580863;6480464;6907045;7240710 1993180;2510163;89876;18029348;14718574;19372141;19342086;18713009;18413232;18160576;17922805;17696780;17318641;16335952;16199530;15489334;15146197;12944405;12887060;12754519;12477932;12372819;11434682;11383556;11031105;10604527;10543447;10464316;10226805;9535413;8761966;8555184;8280154;8226803;8025275;7944388;7686159;3636155;3521732;1998666;1466300;694428;291905;2551064;11864713;10068459;10962009;19423540;19583818;19620246;20135073;20406964;20438785;500690;20725119;20339536;2844223;21886157;22286219;23251661;23381795;22916037 3818 C9IYG8;C9J075;C9JCT1;E9PBC5;H0YAC1;P03952 ABBA01070554;ABBA01070555;AC110771;AF232734;AF232735;AF232736;AF232737;AF232738;AF232739;AF232740;AF232741;AF232742;AK292624;AK297672;AK313378;AMYH01014782;AW182528;AY190920;BC117349;BC117351;BC143911;CH471056;CN265612;G41320;M13143;NG_012095;NM_000892 AAA60153;AAF79940;AAI17350;AAI17352;AAN84794;AAY40900;ADR83088;BAF85313;BAG36176;BAG60034;EAX04622;EAX04623;NP_000883;P03952 Hs.237642 1647258;1688530;1776314;1784986;2119389 D4S3127;D4S3236;SHGC-112359;SHGC4-1080;STS-M13143 KLK3;PPK Fletcher factor;OTTHUMP00000197124;OTTHUMP00000218135;OTTHUMP00000218136;kininogenin;plasma kallikrein;plasma kallikrein heavy chain;plasma kallikrein light chain;plasma prekallikrein APPROVED protein-coding ENSG00000164344 6371 01971 229000;612423 REVIEWED 4105863 KLRF2 killer cell lectin-like receptor subfamily F, member 2 12 12 p13 15195471 15209811 + 10034088 10048432 + 20194751 100431172 D3W0D1 ABBA01067795;AC091814;AMYH01004275;GQ398770;NM_001190765 ADC80446;D3W0D1;NP_001177694 Hs.725113 NKp65 activating coreceptor NKp65;killer cell lectin-like receptor subfamily F member 2;lectin-like receptor F2 protein-coding ENSG00000256797 37646 VALIDATED 1353186 KLRC1 killer cell lectin-like receptor subfamily C, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 12 12 p13 10489894 10498251 - 10598627 10607215 - 1580863;6480464;6907045 20700504;18056444;17976318;17927829;17767552;17706207;17545086;16951318;16690409;16434388;15687235;15561299;15550116;15528343;15489334;12618865;12477932;12461076;12444112;12387742;12165520;11238637;10488737;9842883;9598306;9486650;9485206;9218532;2007850;11513152;19124726;18981088;18941190;18700876;18500933;18448674;18332182;18172398;18083576;9034158;8943374;8753859;8436421;22486170;20550548;20587610;20648603;20139023;10320637;19002424;19395088;19615756;19694640;19782712;20012119;20237496;20379614;20696944;20952657;20654155;21212510;21518478;21538351 3821 F5GYZ0;H0YGB7;P26715 AB073871;ABBA01067805;AC068775;AF023840;AF461812;AK310992;AMYH01004279;BC012550;BC053840;DB464226;NM_002259;NM_007328;NM_213657;NM_213658;U54782;U54783;U54784;U54785;U54786;X54867;X54868 AAB17133;AAC17488;AAH12550;AAH53840;AAL65234;ABM83666;ABM86912;ABM87729;BAB91356;CAA38649;CAA38650;NP_002250;NP_015567;NP_998822;NP_998823;P26715 Hs.512576 1650415;1729133;1797800;2154064;2217536 D12S1416;G63923;KLRC1_2531;KLRC2_1688;SGC35438 CD159A;MGC13374;MGC59791;NKG2;NKG2A C-lectin type II protein;CD159 antigen-like family member A;NK cell receptor A;NKG2-1/B activating NK receptor;NKG2-A/B type II integral membrane protein;NKG2-A/B-activating NK receptor;NKG2-A/NKG2-B type II integral membrane protein;OTTHUMP00000238969;OTTHUMP00000238970;OTTHUMP00000238971;OTTHUMP00000238972;natural killer cell lectin;natural killer group protein 2 APPROVED protein-coding ENSG00000134545 6374 01192 161555 REVIEWED 1347088 KLRH1 killer cell lectin-like receptor subfamily H, member 1 114698 16300 1345052 KLRI1 killer cell lectin-like receptor subfamily I, member 1 359810 21032 1342769 KLRC4 killer cell lectin-like receptor subfamily C, member 4 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010] 12 12 p13.2-p12.3 10451250 10453623 - 10559983 10562356 - 1580863;6480464;6907045 9683661;18006695;16397273;15489334;15140575;12477932;12426565;12426564;12133964;11777960;11751968;11567106;11520456;11323699;10426993;9598306;9394807;8436421;20648603;10783260;20654155;20811687;9887346;20237496;23291587 8302 O43908 ABBA01067805;AC022075;AF027164;AF350018;AF350019;AJ001683;AJ001686;AMYH01004277;BC017784;NM_013431;U96845;U96846 AAC17491;AAC51909;AAC51910;AAH17784;AAK83805;AAK83806;ABM82904;ABM86095;CAA04921;CAA04924;NP_038459;O43908 Hs.721094 1693916;2119200 G17638;G42648 FLJ17759;FLJ78582;NKG2-F;NKG2F NK cell receptor F;NKG2-F type II integral membrane protein;NKG2-F-activating NK receptor;OTTHUMP00000238963;natual killer cell group 2-F APPROVED protein-coding ENSG00000183542 6377 16008 602893 REVIEWED 1349370 KLRC2 killer cell lectin-like receptor subfamily C, member 2 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 12 12 p13 10474465 10479859 - 10583198 10588592 - 1580863;6480464;6907045 9683661;2007850;8436421;19032228;18700876;17767552;15940674;15550116;15489334;14688071;12618865;12477932;11751968;10894168;10320637;9655483;9598306;9486650;9103421;8943374;19395088;19694640;20132973;20379614;20952657;22965785;21554925;21988832;22074011;23396942 3822 F5H518;H0YFK4;H0YGY2;J3KPJ4;P26717 AC068775;AF260134;AJ001684;AK295525;AMYH01004278;BC093644;BC106069;BC112039;NM_002260;X54869;Y13055 AAF86972;AAH93644;AAI06070;AAI12040;BAG58438;CAA04922;CAA38651;CAA73498;NP_002251;P26717 Hs.591157 1650415;1797800;2217536 KLRC1_2531;KLRC2_1688;SGC35438 CD159c;MGC138244;NKG2-C;NKG2C CD159 antigen-like family member C;NK cell receptor C;NKG2-C type II integral membrane protein;NKG2-C-activating NK receptor;OTTHUMP00000238966;OTTHUMP00000238967 APPROVED protein-coding ENSG00000205809 6375 04202 602891 REVIEWED 1352252 KMS Kabuki make-up syndrome 7240710 3826 6382 209900;236700;308700 735531 KLRD1 killer cell lectin-like receptor subfamily D, member 1 Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 p13 10351684 10359227 + 10457050 10469850 + 1580863;6480464;6907045 17976318;17767552;17706207;16378079;16237464;15940674;15561299;15528343;15489334;14734748;14607929;12618865;12477932;12461076;12444112;12387742;12165520;12149421;11751968;11493613;10320637;10201920;10023772;9886400;9815261;9655483;9601951;9598306;9486650;9485206;9472066;9405670;9034158;8943374;8769479;7589107;11513152;19303396;19124726;18448674;18363778;18332182;18323797;18083576;8046333;22486170;22576308;20648603;19555665;19782712;19811464;19897577;20132973;20237496;20654155;21212510;22102879;22384114 3824 E9PCX9;F5GX94;F5H2B7;F6WZH4;H0YFB8;Q13241;Q53ZY6 AB009597;AB010084;ABBA01067803;ABBA01067804;AC022075;AF498040;AF498041;AJ000001;AJ000673;AK291506;AMYH01004276;AMYH01004277;AY227806;AY327501;BC028009;BC042884;CH471094;NM_001114396;NM_002262;NM_007334;U30610;Y14287 AAC50291;AAH28009;AAM70197;AAM70198;AAP57386;AAQ93007;ABM81956;ABM85135;BAA24450;BAA24451;BAF84195;CAA03845;CAA04230;CAA74663;EAW96172;EAW96173;EAW96174;EAW96175;NP_001107868;NP_002253;NP_031360;Q13241 Hs.562457 CD94 CD94 antigen;KP43;NK cell receptor;OTTHUMP00000238754;OTTHUMP00000238755;OTTHUMP00000238756;OTTHUMP00000238758;OTTHUMP00000239093;natural killer cells antigen CD94 APPROVED protein-coding ENSG00000134539 6378 04204 602894 REVIEWED 1604700 KLRG2 killer cell lectin-like receptor subfamily G, member 2 7 7 7 q34 133876259 133906629 - 138788628 138818997 - 139138088 139168457 - 6480464 16344560;12477932;20945404 346689 A4D1S0 AA742567;AACC02000024;ABBA01001188;ABBA01001189;ABBA01001190;ABBA01001191;ABBA01001192;AC005531;AK126174;AMYH01017977;BC104963;BC104965;BC110858;CH236950;CH471070;DB128604;NM_198508 A4D1S0;AAI04964;AAI04966;AAI10859;BAC86473;EAL24036;EAW83921;NP_940910 Hs.17572 1674191;2168317 G29153;STS-T95347 CLEC15B;FLJ44186;MGC131846 C-type lectin domain family 15 member B;C-type lectin domain family 15, member B;OTTHUMP00000212370;killer cell lectin-like receptor subfamily G member 2 protein-coding 24778 13485 VALIDATED 1343603 KLRF1 killer cell lectin-like receptor subfamily F, member 1 KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009] 12 12 12 p13.31 15141454 15158976 + 9871344 9888871 + 9980077 9997604 + 1580863;6480464 10671213;18922855;15489334;12477932;11513955;11265639;20237496;21149606 51348 H0YGE1;Q4KN05;Q4KN30;Q9NZS2 ABBA01067794;AC007068;AF175206;AF175207;AF267244;AF267245;AJ305370;AMYH01004275;BC096734;BC098166;BC098257;BC098354;CH471094;NM_016523 AAF37804;AAF37805;AAH96734;AAH98166;AAH98257;AAH98354;AAL14873;AAL14874;CAC29425;EAW96124;EAW96125;EAW96126;NP_057607;Q9NZS2 Hs.183125 1691072;1778730;1850356 AFMa184zc1;D12S1909;RH91505 CLEC5C;MGC119907;MGC119908;MGC119909;NKp80 C-type lectin domain family 5 member C;OTTHUMP00000238675;OTTHUMP00000238676;OTTHUMP00000238678;activating coreceptor NKp80;killer cell lectin-like receptor F1;killer cell lectin-like receptor subfamily F member 1;lectin-like receptor F1 APPROVED protein-coding ENSG00000150045 13342 05432 605029 PROVISIONAL 737284 KLRG1 killer cell lectin-like receptor subfamily G, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reported, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008] 12 12 p13.31 9033488 9054610 + 9142221 9163343 + 1580863;6480464 9765598;9842918;19604491;19406987;17617594;17079288;16461340;16189514;16140789;15879103;15368283;12477932;12393723;9862378;1831652;20237496;20379614;20213756;20394788;21387286;22684915;21933704 10219 F5H207;F5H8E3;Q96E93 ABBA01012257;AC006581;AF034952;AF081675;AF097358;AI433079;AK301367;AK316337;AMYH01004243;BC012621;CH471116;NM_005810 AAC32200;AAC34731;AAD03719;AAH12621;ABM83746;ABM87065;BAG62909;BAH14708;EAW88594;EAW88595;NP_005801;Q96E93 Hs.558446 1341404;1759183;2117765 D12S1695;RH65666;SHGC-152873 2F1;CLEC15A;MAFA;MAFA-2F1;MAFA-L;MAFA-LIKE;MGC13600 C-type lectin domain family 15 member A;C-type lectin domain family 15, member A;ITIM-containing receptor MAFA-L;MAFA-like receptor;OTTHUMP00000238502;OTTHUMP00000238503;killer cell lectin-like receptor subfamily G member 1;mast cell function-associated antigen (ITIM-containing) APPROVED protein-coding 6380 16076 604874 REVIEWED 737300 KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene as a therapeutic target for Huntington disease. [provided by RefSeq, Oct 2011] 1 1 1 q42-q44 214950683 215013947 + 239762330 239825566 + 241695434 241758949 + 724408;1580863;2290313;2290312;6480464;6907045 9237672;3400092;6466295 10672018;14704851;16716206;15950064;15342556;12477932;12402501;11401433;16710414;19626040;21030213;16344560;21727251;21693093;23251661 8564 A8K693;H0Y320;O15229 ABBA01033250;ABBA01033251;AF056032;AI262990;AK291558;AK310937;AL133390;AL591898;AMYH01001875;AU137977;BC005297;BP276365;CB989076;CH471098;DB373228;NM_003679;Y13153 AAC62615;AAH05297;BAF84247;CAA73613;EAW70094;EAW70095;EAW70096;NP_003670;O15229 Hs.731056;Hs.744065 1298297;1647810;1648696;1657658;1751533;1775034;2148643;2160185;2177017;2182985;2219868 A007K45;D1S3521;D1S3591;D1S547;KMO__6342;SHGC-105324;SHGC-34194;SHGC-58108;SHGC-76597;SHGC-76600;SHGC-76603 dJ317G22.1 OTTHUMP00000037618;OTTHUMP00000037619;OTTHUMP00000037620;kynurenine 3-hydroxylase;kynurenine 3-monooxygenase APPROVED protein-coding ENSG00000117009 6381 04642 603538 REVIEWED 1347719 KMT2A lysine (K)-specific methyltransferase 2A This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] 11 11 q23 117812415 117901146 + 118307205 118397539 + 1625285;1580863;6480464;6907045 8361504 10821850;11313484;15618964;15199122;15640349;19438726;19309322;19269851;19229974;19220463;19219072;19208841;19187761;19155294;19144982;19109563;19059939;19029444;19028982;18829459;18829457;18806775;18776924;18676843;18656699;18656690;18642054;18617057;18598942;18566324;18559874;18538732;18450602;18195096;18082152;18024407;18007578;17957188;17942719;17908926;17905612;17889710;17854671;17851550;17763464;17698583;17612494;17597811;17581865;17578910;17550846;17410185;17341662;17280715;17268512;17252016;17205059;17203973;17081983;17047146;16990798;16970032;16878130;16843108;16604156;16565220;16433901;16386788;16357944;16328057;16253272;16215946;16193084;16169901;16138344;16138343;16086288;16076867;16061630;16029447;16019540;15996925;15968309;15815718;15774615;15710585;15670842;15621793;15618957;15592432;15542854;15302935;15221006;15160920;15132992;14999297;14990976;14978793;14751928;14704031;14702039;14636557;14580777;14562113;14551139;14504097;12946992;12829790;12743608;12732503;12696071;12665971;12665591;12660026;12646957;12637319;12618768;12618766;12547160;12482972;12477932;12461747;12393701;12205094;12203795;12192052;12138900;12127405;12124344;12123608;12096348;12095151;12034519;12023017;11943339;11930009;11921290;11809673;11733351;11433529;11259575;11181995;11110714;10995463;10920186;10706619;10648423;10588740;10490642;9694699;9537414;9477123;9129043;8950979;8703835;8506328;8414518;8378076;8219184;8162575;7794749;7689231;7598802;1720549;1423625;1423624;1303259;14607844;14607843;15960974;15960975;22814291;22895430;20332322;20493169;17671196;10656681;1835902;20454944;20682395;20558618;20961854;20206559;20854876;20979663;11976948;19262598;19264358;19454493;19528237;19528532;19556245;19631984;19722759;19729989;19763085;19835597;19855078;19940862;19956635;19965632;20064463;20093773;20113834;20113838;20299091;20362031;20395514;20520634;9353299;20541477;20844554;20855524;20139053;20818375;20215641;20541251;22266653;22318606;22586326;22665483;20581860;20677832;16510874;16510875;16618927;19454010;20861917;16951254;18840606;19818711;20819778;20969867;16199523;16239140;20858288;21030982;21124902;21135039;21116279;21135858;21331072;17166833;22427200;20691474;20869771;20980053;20920256;21106533;22845170;22936661;22989411;22705992;22939629;22921182;23108137;23129768;23238285;20452361;21389315;20153263;21220120;21285357;22046413;22327296;23515098;21464370;21518926;21741597;22846743;23132946;21436736;21493871;21565404;20309963;20658337;21726816;21959947;21998658;22039304;21953510;16799563;21757704;21937695;23453805;21139048;21890473;22212479;23079661;22583166;21706045;21900057;22012064;22858909;23000965;20305087;22137486;22174154;21988239;22052166;22304832;21836617;21896721;22674806;22740449;22795537;22382894;22094252;23457195;23032693;23192982;23453885;23178754;23334362;23455922;23340173;23412334;12549820;23479570;22927255 4297 E9PR05;H0YEU4;H7BYJ6;H7C5V8;H7C5W4;Q9HBJ3 AB209508;ABBA01039706;ABBA01039707;ABBA01039708;AF036405;AF232000;AF232001;AF272370;AF272371;AF272372;AF272378;AF272379;AF272380;AF272381;AF272382;AF487906;AF512944;AK021845;AK295635;AK303179;AMYH01004070;AMYH01004071;AP000941;AP001267;AY187942;AY187943;AY187944;AY187945;AY373585;BC015388;BC039603;BC065385;BC090876;CH471065;D14540;FM165198;JF938536;L01986;L04284;L04731;NG_027813;NM_001197104;NM_005933;S66432;S78570;S78571;U04737;X83604;Z69744 AAA18644;AAA58669;AAA92511;AAB28545;AAB34770;AAB34771;AAC95283;AAC95284;AAG26334;AAG26335;AAG31978;AAG31979;AAG31983;AAG31984;AAG31985;AAG31986;AAM14566;AAM82546;AAO38742;AAO38743;AAO38744;AAO38745;AAQ63624;BAA03407;BAD92745;BAG58509;BAG64274;CAA58584;CAA93625;CAQ60122;EAW67380;EAW67381;EAW67382;EAW67383;EAW67384;NP_001184033;NP_005924;Q03164 Hs.258855 1672870;1776826;1794800;1853078;2124436;2135238;2136786;2144761;2161181;2190995;5493125 MARC_12741-12742:1029349377:1;MLL1;PMC56962P1;RH16534;RH44274;RH48277;RH65355;STS-AA009746;STS-H92945;STS-T67449;UniSTS:484385 ALL-1;CXXC7;FLJ11783;HRX;HTRX1;KMT2A;MLL;MLL/GAS7;MLL1A;TET1-MLL;TRX1;WDSTS CDK6/MLL fusion protein;CXXC-type zinc finger protein 7;MLL-AF4 der(11) fusion protein;MLL/GAS7 fusion protein;MLL/GMPS fusion protein;OTTHUMP00000232648;OTTHUMP00000238461;histone-lysine N-methyltransferase 2A;histone-lysine N-methyltransferase MLL;lysine N-methyltransferase 2A;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila);myeloid/lymphoid or mixed-lineage leukemia protein 1;trithorax-like protein;zinc finger protein HRX APPROVED protein-coding ENSG00000118058 7132 01162 159555 REVIEWED 735993 KLRK1 killer cell lectin-like receptor subfamily K, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010] 12 12 p13.2-p12.3 10416219 10451632 - 10524952 10542653 - 6480464;6907045 16081780;9598306;15240696;2007850;18676862;19587005;19569244;19555665;19542445;19508374;19489688;19454690;19436053;19424970;19363685;19329438;19319200;19303396;19289577;19237603;19200602;19155520;19140827;19124832;19118515;19087227;19086992;19032228;18941207;18832705;18754036;18700876;18658158;18657862;18619507;18599182;18564160;18508446;18490733;18490724;18417514;18398831;18398827;18394936;18361934;18360276;18354183;18316620;18313361;18287244;18280748;18275895;18230726;18202175;18174257;18097042;18094430;18094399;18024793;18023027;18006849;17991774;17923698;17875681;17661204;17635809;17625602;17609265;17570210;17470428;17405908;17267578;17255258;17202358;17173658;17109473;17043026;16914326;16901903;16887974;16849432;16732291;16690951;16630603;16568261;16517727;16344560;16293707;16272287;16239914;16210654;16136475;15885603;15814668;15699512;15699119;15657183;15652646;15489334;15328155;15187109;15070686;15065764;15051759;14523385;14508119;12902493;12732206;12679019;12646700;12594848;12477932;12426564;12384702;11973127;11777960;11754823;11751968;11323699;11239445;10426994;10426993;10367903;9683661;22438812;9394807;8889548;11520456;22585739;22730533;22798674;22316211;22360401;20587610;20648603;17584663;19038287;19498463;19658097;19711124;19735685;19861434;20008788;20012119;20024547;20045334;20074451;20080967;20150362;20488792;20415540;21085608;11567106;12133964;12426565;12740575;17217747;18602338;18836475;19286259;19631280;19689730;20536569;20883317;21061445;21115900;20926796;21074271;20511557;20519648;20530257;20393128;18070447;22480139;22507622;23020627;20460636;20844584;20863413;21179506;20959069;21307295;21321202;20800424;21277902;19794085;21477352;21689246;21469127;21789015;21518928;20354827;21554925;21590763;21600899;21712812;23298206;23235109;23302231;21598106;22242197;21518478;21706044;21816829;22104546;22143889;22102694;22167753;22105417;22304689;22200673;22384114;22449797;21626292;22640649;22170554;22613008;23115291;23298273;22252158;23445485;23846901;23251661;17170457;20667578;21075351;21994772;22942430;22870231;22806577 22914 P26718;Q8WZ67 ABBA01067805;AC022075;AF260135;AF260136;AJ001687;AK226161;AK292059;AMYH01004277;BC039836;CB241686;CH471094;DA933271;DA960048;DQ494172;NG_027762;NM_007360 AAF86973;AAF86974;AAH39836;ABF50044;BAF84748;CAA04925;EAW96178;EAW96180;EAW96182;NP_031386;P26718 Hs.387787 2115931 STS-X54870 CD314;D12S2489E;FLJ17759;FLJ75772;KLR;NKG2-D;NKG2D NK cell receptor D;NKG2-D type II integral membrane protein;NKG2-D-activating NK receptor;OTTHUMP00000239062;OTTHUMP00000239064;nkr-p2, ortholog of human nkg2d APPROVED protein-coding ENSG00000213809 18788 17240 611817 REVIEWED 1320090 KMT2E lysine (K)-specific methyltransferase 2E This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 7 7 q22.1 104441873 104541768 + 104654637 104754532 + 1580863;6480464;6907045 21145461;19377461;18573682;18231586;14718661;14702039;12477932;12101424;11597142;9218106;7672722;21423215;20439461;21205756;21908553;19322201;22797924 55904 C9JNE1;C9JQ68;C9JYI9;E7ETZ7;F8WAU9;H7C4F3;H7C5C4;Q86WG0 AACC02000004;ABBA01057960;ABBA01057961;AC005065;AC005070;AC007384;AF067804;AF519459;AK000940;AK024088;AMYH01017817;AY113691;AY147037;AY157990;AY195568;AY195569;AY211525;AY222296;AY234382;AY438698;AY438699;BC001296;BC009061;BC016382;BC024658;BC040004;BC040848;BC053906;BC062583;BC142987;CH236947;CH471070;NM_018682;NM_182931 AAD04721;AAF75564;AAH01296;AAH40004;AAH53906;AAH62583;AAI42988;AAM74947;AAN17675;AAN76325;AAO47009;AAO47010;AAO64395;AAO86416;AAO89072;AAR13893;AAR13894;BAB14821;EAW83355;EAW83356;EAW83357;EAW83358;NP_061152;NP_891847;Q8IZD2 Hs.592262 1336199;1674983;1677656;1679005;1685918;1695272;1695384;1699532;1757293;1767914;1767916;2132077;2149911;2162059;2179965;2180179;2189481;2218566;5491567;7186769 D7S2168E;D7S2332;D7S2545;MARC_21397-21398:1032898998:1;MARC_7337-7338:992008345:1;MLL5__3654;RH103363;RH12001;RH46588;RH64853;RH78854;RH92402;SGC30791;SHGC-144699;SHGC-62991;SHGC-68481;WI-15919;WI-16208;WI-21004 FLJ10078;FLJ14026;HDCMC04P;KMT2E;MGC70452;MLL5 OTTHUMP00000212083;OTTHUMP00000212085;histone-lysine N-methyltransferase 2E;histone-lysine N-methyltransferase MLL5;lysine N-methyltransferase 2E;myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila);myeloid/lymphoid or mixed-lineage leukemia protein 5 APPROVED protein-coding ENSG00000005483 18541 10528 608444 REVIEWED 1350607 KMT2D lysine (K)-specific methyltransferase 2D The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] 12 12 q13.12 47699025 47735374 - 49412758 49449107 - 1580863;6480464;6907045;7240710 9247308;16603732;14992727;19219072;18082152;17178841;17081983;15302935;15231748;12482968;12477932;10737800;9225980;8896557;8595911;17925232;21447625;19221051;19556342;20711175;16510875;16951254;15960974;16510874;20808952;20937768;17761849;16159877;16199523;18026121;22126750;22266653;22665483;21280141;23129768;20516061;22840376;21671394;21683083;21796119;19850743;21658225;21139048;21502505;21890473;17500065;22829784;22183980;21882399;23192982;22939629;23045699 8085 F8VWW4;H0YEF2;O14686;Q59FG6;Q6PIA1 AB209494;ABBA01031498;AC011603;AF010403;AF010404;AL359940;AMYH01004437;AW997729;BC039197;BC040663;BF739070;BF876885;BF993837;BI031059;BX956541;CH471111;CR749712;NG_027827;NM_003482;U80756;X85325;Y08267 AAB91448;AAC51734;AAC51735;AAH39197;BAD92731;CAA69593;EAW58034;EAW58035;EAW58036;NP_003473;O14686 Hs.731384 1671440;2123805;2160868 HSC1JE012;STS-T90896;WIAF-1691 AAD10;ALR;CAGL114;KABUK1;KMS;KMT2B;KMT2D;MLL2;MLL4;TNRC21 ALL1-related protein;Kabuki make-up syndrome;Kabuki mental retardation syndrome;OTTHUMP00000233155;histone-lysine N-methyltransferase 2D;histone-lysine N-methyltransferase MLL2;lysine N-methyltransferase 2B;lysine N-methyltransferase 2D;myeloid/lymphoid or mixed-lineage leukemia 2;myeloid/lymphoid or mixed-lineage leukemia protein 2;trinucleotide repeat containing 21 APPROVED protein-coding ENSG00000167548 7133 03664 602113 REVIEWED 1345529 KNO Knobloch syndrome 8776601 3828 6384 1605411 KMT2B lysine (K)-specific methyltransferase 2B This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008] 19 19 q13.1 40900761 40921619 + 36208921 36229779 + 6480464;6907045 17474147;10409430;18029348;18320596;17081983;16713569;15489334;15302935;15231748;15057824;12477932;10637508;9205841;9171351;16199523;18838538;19060922;20433758;10744724;16751776;17021013;19047629;17166833;19221051;17500065;23129768;21900206;20516061;16147992;20305087;21502505;21890473;22266653;22318606;22665483;23000965;23426673;22713656 9757 Q9UMN6 AB002302;ABBA01018761;ABBA01018762;AD000671;AF104918;AF105279;AF105280;AF186605;AJ007041;AMYH01009732;BC007353;BC009337;BC026861;NM_014727 AAD17932;AAD26112;AAD26113;AAD56420;AAH07353;AAH09337;BAA20763;CAB45385;NP_055542;Q9UMN6 Hs.676457;Hs.92236 1661548;1734716;2189361;2217608;2218130;5021690 D19S705E;MARC_2763-2764:991933378:3;MLL4_3747;STS-H85102;TZFP_3812;ksks195 HRX2;KIAA0304;KMT2B;MLL1B;MLL2;MLL4;TRX2;WBP7 KMT2D;OTTHUMP00000045792;WBP-7;WW domain binding protein 7;WW domain-binding protein 7;histone-lysine N-methyltransferase 2B;histone-lysine N-methyltransferase MLL4;lysine N-methyltransferase 2B;lysine N-methyltransferase 2D;mixed lineage leukemia gene homolog 2;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4;myeloid/lymphoid or mixed-lineage leukemia 4;myeloid/lymphoid or mixed-lineage leukemia protein 4;trithorax homolog 2;trithorax homologue 2 APPROVED protein-coding ENSG00000105663 15840 06017 606834 REVIEWED 7247511 KNOP1P5 lysine-rich nucleolar protein 1 pseudogene 5 100130158 ABBA01037924;AC024681;AMYH01019011;NG_022436 pseudo 48923 INFERRED 1349296 KNPEP lysyl aminopeptidase (aminopeptidase Co) 3829 6385 7247800 KMT2E-AS1 KMT2E antisense RNA 1 (head to head) 12477932;14702039 100216545 AACC02000004;ABBA01057961;AC007384;AK094372;AK123476;AK124046;AMYH01017817;AW000796;BC017007;CH236947;NR_024586 Hs.631150 miscrna 40845 VALIDATED 1347083 KMT2C lysine (K)-specific methyltransferase 2C This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] 7 7 q36.1 151462943 151764023 - 151832010 152133090 - 1580863;6480464;6907045 17353931;19240061;19221051;19215798;17614854;17500065;17081983;16916647;16344560;15365572;15342556;14702039;12853948;12482968;12477932;12168954;11891048;11718452;10819331;9847074;8889548;22665483;22266653;19322201;19913121;20600896;20628086;20936779;17761849;19556342;17021013;19047629;17403666;17925232;21447625;23129768;20516061;21683083;21116761;19136632;21853109;20305087;21502505;21900206;22183980;21139048;22034226;23429989;23259788 58508 C9J4Z5;H0Y765;H0YMU7;H0YNL4;H7BY37;H7C212;H7C2V8;Q6N019;Q8NEZ4 AB040939;ABBA01035137;ABBA01035138;ABBA01035139;ABBA01035140;ABBA01035141;AC005631;AC006017;AC006474;AC104692;AF264750;AK022687;AK025553;AK025911;AK075113;AK095628;AL832387;AL833924;AMYH01018149;AY024361;BC011921;BC151837;BP281562;BU623509;BU685177;BX640742;CD513584;DA266956;NM_170606 AAD45822;AAF74766;AAI51838;AAK00583;AAS00364;BAA96030;BAC11409;CAD38780;CAE45854;NP_733751;Q8NEZ4 Hs.647120 1650906;1663401;1668798;1701456;1725107;1751497;1768780;1847408;1848991;2111994;2137693;2143764;2147886;2149244;2163690;2169050;2181865;2183029;2187709;2187711;2187713;2187715;2187717;2187719;2218734;5015404;5016478;5020881;5022463;5022685;5024413 AFMa153wd9;BAGE__4427;D1S3660;D3S1673;D7S2222;D7S3200;D7S3202;D7S3203;D7S3204;D7S3205;D7S3206;G18004;GDB:1318126;GDB:1318392;GDB:434012;GDB:4585181;L17705;L17709;L17877;MLL3;RH104360;RH118851;RH16362;RH16464;RH45284;RH46397;RH69864;SGC34800;SHGC-105317;SHGC-35156;WI-17647 DKFZp686C08112;FLJ12625;FLJ38309;HALR;KIAA1506;KMT2C;MGC119851;MGC119852;MGC119853;MLL3 ALR-like protein;OTTHUMP00000197821;histone-lysine N-methyltransferase 2C;histone-lysine N-methyltransferase MLL3;histone-lysine N-methyltransferase, H3 lysine-4 specific;homologous to ALR protein;lysine N-methyltransferase 2C;myeloid/lymphoid or mixed-lineage leukemia 3;myeloid/lymphoid or mixed-lineage leukemia protein 3 APPROVED protein-coding ENSG00000055609 13726 06016 606833 REVIEWED 1606640 KNOP1 lysine-rich nucleolar protein 1 16 16 16 p12.3 18866635 18878453 - 19625175 19636993 - 19717674 19729492 - 6480464 12477932;10493829;19471022;21693764 400506 H3BMC9;H3BNU8;H3BPL4;Q1ED39 ABBA01028265;AC002550;AMYH01007324;BC047010;BC089430;BC117562;NM_001012991 AAC05805;AAH89430;AAI17563;NP_001013009;Q1ED39 Hs.585209 1735800;1776658;5113103 D8S1410E;RH48839;RH69601 101F10.1;C16orf88;FAM191A;TSG118 family with sequence similarity 191, member A;protein C16orf88;testis-specific gene 118 protein APPROVED protein-coding 34404 18415 PROVISIONAL 1351519 KNDC1 kinase non-catalytic C-lobe domain (KIND) containing 1 10 10 10 q26.3 128476610 128543501 - 134823961 134889906 + 134973971 135039916 + 6480464 16344560;21145461;12477932;11214970;16385451;16751776;21150319 85442 E7ETM1;Q5U5J6;Q76NI1 AB000781;AB051555;ABBA01006206;ABBA01006207;AI146357;AI951527;AK057756;AK074179;AK090457;AK131205;AK294170;AL445199;AMYH01003227;AMYH01003228;BC047924;BQ719533;DA388038;DQ588046;NM_152643 AAH47924;AAI72419;BAB21859;BAB71561;BAB85005;BAC03438;BAD12625;BAD18397;BAG57491;NP_689856;Q76NI1 Hs.530685 2109459;2142368;5125229 KNDC1__6343;RH78666;SGC32344 C10orf23;FLJ16067;RASGEF2;RP13-439H18.3;bB439H18.3 KIND domain-containing protein 1;OTTHUMP00000179104;RasGEF domain family, member 2;cerebral protein 9;kinase non-catalytic C-lobe domain-containing protein 1;protein very KIND;ras-GEF domain-containing family member 2 protein-coding ENSG00000171798 29374 13931 VALIDATED 1344647 KNSTRN kinetochore-localized astrin/SPAG5 binding protein 15 15 15 q15.1 17440907 17452474 + 38462285 38473299 + 40674922 40686489 + 737633;6480464 12477932 15855057;15231747;16730941;15489334;14702039;19667759;20360068;21900206;22110139;21139048;21890473;17974975;23035123 90417 H0YKD4;H0YKF8;H0YLA7;H0YLH8;H0YM11;H0YN50;H0YNN6;Q9Y448 ABBA01038453;AC013356;AK027408;AK125765;AK298156;AK301887;AMYH01006560;AW156972;AY652615;BC004543;BC014060;BC021124;BC045739;BC064344;BC107802;BC118559;BC118639;CH471125;DC396708;NM_001142761;NM_001142762;NM_033286;U81002 AAD24201;AAH04543;AAH14060;AAH45739;AAH64344;AAI07803;AAI18560;AAI18640;AAT66172;BAG60430;BAG63319;EAW92409;EAW92410;EAW92411;EAW92412;NP_001136233;NP_001136234;NP_150628;Q9Y448 Hs.525796 1666322;1853999 A008N27;RH44711 C15orf23;FLJ14502;HSD11;MGC141728;MGC141729;SKAP;TRAF4AF1 TRAF4 associated factor 1;TRAF4-associated factor 1;kinastrin;kinetochore-localized astrin-binding protein;kinetochore-localized astrin/SPAG5-binding protein;putative TRAF4-associated factor 1;small kinetochore associated protein;small kinetochore-associated protein;small kinetochore-associated protein, kinetochore-localized astrin-binding protein, TRAF4 associated factor 1 APPROVED protein-coding ENSG00000128944 30767 12669 614718 VALIDATED 1604992 KNCN kinocilin 1 1 1 p33 45298709 45304280 - 46783903 46789474 - 47011316 47016887 - 6480464 16344560;15855039;14702039;12477932 148930 A6PVL3;Q96MR4 ABBA01050837;AK056573;AL136373;AMYH01000588;BC101295;BC101296;BC101297;BC101298;CH471059;DA208279;DB324949;NM_001097611 A6PVL3;AAI01296;AAI01297;AAI01298;AAI01299;BAB71220;EAX06906;NP_001091080 Hs.350764 FLJ32011;Kino;L5;MGC120370;MGC120371;MGC120372;RP11-49P4.2 OTTHUMP00000196304;OTTHUMP00000231549;kinocilin;likely orthologue of Mus musculus kinocilin (Kncn) protein-coding 26488 08117 611455 PROVISIONAL 1603713 KNG1 kininogen 1 This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 3 3 q27 187917814 187944437 + 186435098 186462199 + 2311541;6480464;6484113;6907045;7240710 17065357 12911595;11290596;11385996;16014619;11970955;12715893;18029348;14718574;19330902;19213944;19126685;19086053;19082699;18810490;18783336;18455532;18330734;18156442;18083112;18000168;17635790;17585065;17050061;16598774;16344560;16335952;16140359;16091369;15086463;15044324;14764580;14760718;14687935;14629481;14597972;14530218;14517215;14506238;12952972;9276160;9269768;8807575;8764310;8761966;8710908;8706894;8662705;8253784;8125298;7944388;7901207;7686159;7589467;7492318;6441591;6406551;4952632;4054110;3936495;3689342;3484703;3366244;3182782;3045123;3038169;2989294;2989293;2460446;2066106;1733668;1652157;1202089;500690;291905;12887060;12851878;12761213;12754519;12748173;12663668;12594059;12576314;12492488;12477932;12452440;12213329;12090937;12082110;12071855;12051729;11920276;11792853;11689005;11677365;11517935;11434682;10887113;10845911;10464316;10066772;9459346;9428707;19913121;20628086;16754659;11278902;12173;15028279;18240029;19584173;19716087;19885862;19923143;19966052;20050188;20303064;20379614;19592120;16712791;2834384;20876611;21270443;21451024;21054968;21496200;21527472;21586566;22703881;21982724;21145461;22701019;23000411 3827 P01042 ABBA01058383;ABBA01058384;AC109780;AC112907;AI133186;AK223589;AK290839;AK298440;AK303768;AK315230;AMYH01013734;AMYH01013735;AMYH01013736;AY248697;BC026253;BC060039;BG430928;CB148843;CD014130;CH471052;DA537547;DC362362;HC918468;K02566;M11437;M11438;M11521;M11522;M11523;M11524;M11525;M11526;M11527;M11528;NG_016009;NM_000893;NM_001102416;NM_001166451 AAA35497;AAB59550;AAB59551;AAH26253;AAH60039;AAO61092;BAD97309;BAF83528;BAG37659;BAG60660;BAG64734;CBN73461;EAW78179;EAW78180;EAW78181;NP_000884;NP_001095886;NP_001159923;P01042 Hs.77741 1665815;1698828;1741445;1772852;1849965;2124731 D3S3899;D3S3935;GDB:181214;RH102978;SHGC-35523;STS-M11437 BDK;BK;KNG HMWK;OTTHUMP00000197128;OTTHUMP00000197129;OTTHUMP00000210109;alpha-2-thiol proteinase inhibitor;bradykinin;fitzgerald factor;high molecular weight kininogen;kininogen-1;williams-Fitzgerald-Flaujeac factor APPROVED protein-coding 6383 01970 228960;612358 REVIEWED 1317369 KNTC1 kinetochore associated 1 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 122603808 122703457 + 121577762 121676900 + 123011809 123110947 + 1580863;6480464 11146660;12686595;18065224;14702039;11590237;8889549;8724849;17353931;20677014;19468067;20379614;22863883;22939629;20360068;12477932;20696768;21139048;21890473;21906983 9735 B3KSG2;E7ES84;F5H5V0;H0YFL5;J3KQF2;P50748 AA157787;ABBA01060460;ABBA01060461;ABBA01060462;AC026333;AC127002;AI916095;AK093470;AK293403;AK303337;AMYH01004828;AMYH01004829;BC150278;CH471054;D79988;NM_014708 AAI50279;BAA11483;BAG52724;BAG56910;BAG64400;EAW98333;EAW98334;NP_055523;P50748 Hs.300559 1666182;1746301;2106765;2106767;2106769;2134735;2161163;5016368 A004D47;D12S2137;G17637;G64576;GC07S08;GC07S25;GC07S57;RH25383 FLJ36151;KIAA0166;ROD OTTHUMP00000236760;Rough Deal homolog, centromere/kinetochore protein;hRod;hsROD;kinetochore-associated protein 1 APPROVED protein-coding ENSG00000184445 17255 09561 607363 REVIEWED 1343568 KPNA5 karyopherin alpha 5 (importin alpha 6) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008] 6 6 q22.1 117109060 117169723 + 117002367 117063030 + 1580863;6480464 12740372;12610148;12477932;12414950;12368302;11904219;11389849;11278458;11035935;10964507;10888652;10860744;10525473;10366569;9918876;9603322;9593140;9562972;9557700;9548947;9463369;9366553;9303297;9282826;9275210;9008157;8876228;8659115;8552640;8551560;8529100;8105392;8041786;8041734;7859280;7745752;7585960;7566098;15057270;17981117;9395085;16713569;7494303;2064827;1631159;15037073;21145461;20406804;21460395;16919237;17643375;17207965;22939629;21555454;21890473;21906983;17411366;19961612;20015032;21326825;22509482 3841 H0Y3K0;O15131;Q5TD90 AA332147;ABBA01026045;AF005361;AK314206;AL132795;AL354716;AMYH01016617;BC047409;BG721781;CH471051;NM_002269 AAC51868;AAH47409;ADQ32456;BAG36882;EAW48216;NP_002260;O15131 Hs.182971 1679173;1690202;1797802;1850372;2135022;2154813;5101453 AFM268vh5;D6S2428;KPNA5_2533;RH142657;RH27493;RH78621;RH93670 IPOA6;SRP6 OTTHUMP00000017076;importin alpha 6;importin subunit alpha-6;karyopherin subunit alpha-5 APPROVED protein-coding ENSG00000196911 6398 05179 604545 REVIEWED 2306472 KPNA7 karyopherin alpha 7 (importin alpha 8) 7 7 7 q22.1 93500798 93534654 - 98609133 98643088 - 98771197 98805089 - 6480464 12690205;20701745;20228798;18258596 402569 A9QM74 AACC02000085;ABBA01045693;AC073468;AMYH01017720;AW193472;CH236956;EU126604;NM_001145715 A9QM74;ABW96272;EAL23884;NP_001139187 Hs.253050 OTTHUMP00000205631;importin subunit alpha-8;karyopherin 7;karyopherin subunit alpha-7 protein-coding ENSG00000185467 21839 614107 VALIDATED 1353027 KPRP keratinocyte proline-rich protein 1 1 1 q21.3 125808584 125812607 + 150997130 151001153 + 152730506 152734529 + 6480464 21319273;16710414;16297201;21139048 448834 Q5T749 ABBA01049425;AL353779;AMYH01001401;AY960854;NM_001025231 AAI52832;AAX59055;NP_001020402;Q5T749 Hs.149386 1763089;1765729 SHGC-146825;SHGC-149163 C1orf45 OTTHUMP00000014333;chromosome 1 open reading frame 45;hKPRP;keratinocyte expressed, proline-rich protein;keratinocyte proline-rich protein protein-coding ENSG00000203786 31823 613260 PROVISIONAL 1344039 KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination [provided by RefSeq, Jul 2008] 17 17 q24.2 63462310 63473432 + 66031848 66042970 + 1580863;6480464 9020106;9497340;9168958;7565597;8016130;7754385;19117056;19103427;18561322;18068677;17899179;17596301;17551513;17537211;17344301;17255955;17070506;16964243;16818692;16752129;16565220;16552725;16380377;16188882;15795315;15731250;15635413;15489334;15383276;15342649;15234975;15194443;14743216;12933681;12909615;12883947;12881431;12631736;12551970;12504543;12504098;12477932;12477715;12414990;12414950;12368302;12176322;12062430;12011095;11988093;11904219;11882654;11840567;11796712;11790298;11735022;11581171;11389849;11310559;11278458;11152524;11114884;11035935;10980193;10964507;10930427;10888660;10888652;10860744;10801418;10772949;10748034;10525473;10497201;10366569;10359596;10353244;10228156;9918876;9817747;9786944;9603322;9593140;9582382;9562972;9557700;9548947;9463369;9436978;9366553;9323134;9303297;9282826;9275210;9261351;9008157;8955125;8876228;8659115;8631802;8617227;8617226;8552640;8551560;8529100;8105392;8041786;8041734;7859280;7745752;7604027;7585960;7494303;2064827;1631159;15037073;15142377;11283257;10523667;15351208;17170104;17081983;21326825;21330047;15579463;9891055;21145461;21319273;10869435;15870280;17148452;17643375;18162579;19883659;19950226;19961612;20393006;9275187;20362631;20859152;15942031;21832049;22939629;22962582;16449650;18655775;19454010;21385873;20658535;19412186;20562864;22863883;9428644;17573780;20460684;21454664;17324944;21418451;21220479;20811636;16196087;21286940;14759373;17314511;18781797;19332566;19343720;19471022;19801544;20305087;20360068;20639865;21139048;21890473;21906983;21907836;21987572;22125623;21252943;21690087;22415091;21909132;22843992;22678362;23283818;15564377;19738201;21963094;21988832;22623428;22772608;23000965;23181366;23246001;23649804;17306895;17360709;17411366;17586317;19275582;19338763;19458171;19803398;20015032;20719241;21318276;21321119;21489275;22053931;22110766;22174317;22417684;22505724;22509482;22797925;22928108;8777717 3838 J3KS65;J3QL07;J3QLL0;P52292;Q7Z726 ABBA01028972;ABBA01028973;AC134407;AC145081;AJ303086;AK024833;AK058111;AK291954;AMYH01023965;BC005978;BC013257;BC034443;BC053343;BC067848;BC146905;BT006665;CH471099;NM_002266;U09559;U28386 AAA65700;AAA69957;AAH05978;AAH53343;AAH67848;AAI46906;AAP35311;ABM84694;ABM92216;BAF84643;CAC83080;EAW89040;EAW89041;NP_002257;P52292 Hs.594238 2164842;2217538 KPNA2_2720;SHGC-11874 IPOA1;QIP2;RCH1;SRP1alpha RAG cohort 1;RAG cohort protein 1;SRP1-alpha;importin alpha 1;importin alpha 2;importin subunit alpha-1;importin subunit alpha-2;importin-alpha-P1;karyopherin subunit alpha-2;pendulin APPROVED protein-coding ENSG00000182481 6395 02818 600685 REVIEWED 1322742 KPNA3 karyopherin alpha 3 (importin alpha 4) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009] 13 13 q14.3 49171462 49265058 - 50273443 50367057 - 1580863;6480464 10366569;8105392;9435235;15057270;17353931;17981117;9154134;17081983;16713569;16644122;16344560;16189514;15882913;15635413;15489334;14759373;14743216;12740372;12477932;12414950;12368302;11904219;11389849;11278458;11035935;10964507;10888652;10860744;10744690;10525473;10100610;9918876;9603322;9593140;9562972;9557700;9548947;9463369;9395085;9366553;9303297;9282826;9275210;9008157;8876228;8659115;8552640;8551560;8529100;8125298;21145461;8041786;8041734;7859280;7745752;7585960;7494303;2064827;1631159;15037073;10523667;17643375;19615732;20562864;22863883;22990118;19343720;20360068;21139048;22267201;23752268;19447967;21890473;21988832;22665369;22810585;22960338;23251661;17306895;17411366;19961612;20015032;21326825;22509482 3839 H0Y4S9;O00505;Q8IYQ9 ABBA01051023;ABBA01051024;ABBA01051025;AF005263;AF034756;AI309735;AK223480;AK290528;AK291000;AL135901;AL136301;AMYH01005110;AMYH01005111;AU132188;BC017355;BC024202;BC035090;CH471075;D89618;DN991804;NM_002267;Y12394 AAB87693;AAH17355;AAH24202;AAH35090;AAQ13404;ABM83570;ABM86808;BAA20378;BAD97200;BAF83217;BAF83689;CAA73026;EAX08837;EAX08838;EAX08839;NP_002258;O00505 Hs.527919 1337268;1679644;1736320;1738395;2177145;2190589;2191279;2217540;5111977;5112317;5491830 D13S273;D13S663E;D13S825E;D13S862E;EST9H12;G43604;KPNA3;KPNA3_1525;MARC_17027-17028:1023293711:3;RH103323;SHGC-2160 IPOA4;SRP1;SRP1gamma;SRP4;hSRP1 OTTHUMP00000018426;SRP1-gamma;importin alpha 4;importin alpha Q2;importin alpha-3;importin subunit alpha-3;importin subunit alpha-4;importin-alpha-Q2;karyopherin subunit alpha-3;qip2 APPROVED protein-coding ENSG00000102753 6396 03536 601892 REVIEWED 1322966 KPNA4 karyopherin alpha 4 (importin alpha 3) The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008] 3 3 q25.33 161700656 161766070 - 160212783 160283376 - 1580863;6480464 17353931;17981117;9395085;17661348;17081983;16375861;15635413;15489334;14702039;12610148;12477932;12414950;12368302;11904219;11389849;11278458;11035935;10965137;10964507;10888652;10860744;10525473;10366569;10100610;9918876;9603322;9593140;9562972;9557700;9548947;9463369;9366553;9303297;9282826;9275210;9168958;9008157;8876228;8659115;8552640;8551560;8529100;8105392;8041786;8041734;7859280;7745752;7585960;7494303;2064827;1631159;15037073;21145461;20554775;10523667;19710421;19927155;20193720;20936779;19412186;20562864;22863883;17855385;8619474;9110174;20504901;21832049;17314511;14759373;15057270;19801544;20360068;21139048;21890473;22222486;18685789;19322201;22113938;22665369;23383277;23667531;23752268;17411366;19961612;20015032;21326825;21763491;22110766;22174317;22509482;22928108 3840 H7C4F6;O00629 AB002533;ABBA01058795;ABBA01058796;AC078868;AF038199;AK021602;AK055675;AK129841;AK291041;AMYH01013616;BC007458;BC016754;BC028691;BC034493;BC052814;CH471052;NM_002268;U93240;Y12393 AAC25605;AAH07458;AAH16754;AAH28691;AAH34493;ABM81792;ABM84947;BAA19546;BAF83730;CAA73025;EAW78631;EAW78632;EAW78633;NP_002259;O00629 Hs.467866 1664964;1667269;1744277;1770091;2217542;5015861;5015879;5015961;5016478;5037552;5095830;5109281;5125895;5491893;7185938;7187493 D10S16;D15S1477;D1S1425;D6S1216E;D8S2279;GDB:314949;GDB:434012;GDB:451532;HSC0TF112;KPNA4_907.2;Kpna4;RH46490;STS-N58827;WIAF-1631 FLJ31113;IPOA3;MGC12217;MGC26703;QIP1;SRP3 OTTHUMP00000213880;importin alpha 3;importin alpha Q1;importin subunit alpha-3;importin subunit alpha-4;importin-alpha-Q1;karyopherin subunit alpha-4 APPROVED protein-coding ENSG00000186432 6397 04275 602970 REVIEWED 1345392 KRASP1 Kirsten rat sarcoma viral oncogene homolog pseudogene 1 6 6 6 p12.1 56296831 56302055 + 54743128 54743890 + 54635272 54640504 + 6672765;6308466;2894641 3844 ABBA01050513;AL356782;AL512363;AMYH01016362;K01912;NG_001154 1678033;1694954;1725789;1741049;1743989 G44377;G62075;GDB:177536;GDB:384734;RH65999 KRAS1P;c-Kras1 APPROVED pseudo 6406 INFERRED 1347998 KPNA1 karyopherin alpha 1 (importin alpha 5) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 3 3 q21 123623438 123716474 - 122140748 122233786 - 1580863;6480464;6484113 22399302;10525473;10366569;9918876;9817747;9695948;9603322;9593140;9582382;9562972;9557700;9548947;9463369;9436978;9366553;9303297;9282826;9275210;9261351;9110174;9020149;9008157;8876228;8692858;8659115;8631802;8619474;8552640;8551560;8529100;8105392;8041786;8041734;7892216;7859280;7831767;7745752;7604027;7585960;7494303;2064827;1631159;15037073;15731250;15142377;10523667;9102465;10951564;8707840;10473610;12861017;15342649;7754385;17353931;17981117;8052633;1985200;7559393;19118899;19066626;19001869;18707546;18238777;17928350;16698996;16439554;16344560;16298512;15489334;14702039;12740372;12610148;12504543;12477932;12414950;12368302;12048190;12011095;11927559;11904219;11824786;11389849;11278458;11152524;11060446;11035935;10964507;10888660;10888652;10860744;10772949;10748034;21145461;20406804;11682607;15231748;16713569;17643375;17938174;19596235;19615732;19889762;20193720;20705733;14600264;20974480;21385873;21209321;19412186;22863883;22990118;23106098;21307607;21988832;22770219;22778253;23000965;23425335;23752268;22939629;20360068;21987768;22321063;15057270;19801544;21139048;21890473;21906983;21963094;22130666;22110766;21252943;11032817;12783858;19270695;16135813;22500989;15942031;17304248;17344301;17411366;19338763;19803398;19961612;20015032;21318276;21326825;22174317;22422068;22509482;8777717 3836 C9J352;C9J4U1;C9JWD9;C9JYI4;F2Z3G4;P52294 AA689229;ABBA01016468;ABBA01016469;AC083798;AC096861;AF035311;AI216375;AK125626;AK128280;AK299030;AK312713;AL700464;AL710311;AMYH01013430;BC002374;BC003009;BC029937;BC090864;BG287593;BT006959;CA433573;CH471052;CR456743;DA308391;DN991078;NM_002264;NR_026698;S75295;U20620 AAC60648;AAH02374;AAH03009;AAH90864;AAP35605;ABM82332;ABM87821;BAG54224;BAG54654;BAG61106;CAG33024;EAW79482;EAW79483;NP_002255;P52294 Hs.161008 1648652;1658940;1664245;1671512;1675068;1729041;1735126;1777389;1847073;2143462;2156816;2170076;2185361;5111289 A006N14;A006O36;D3S2793E;Kpna1;RH78274;SGC34836;SHGC-30180;SHGC-30346;SHGC-77259;SHGC-77263;SHGC-77266;WI-11825;WI-12216;WI-15791 IPOA5;NPI-1;RCH2;SRP1 OTTHUMP00000215561;OTTHUMP00000215564;RAG cohort protein 2;SRP1-beta;importin alpha 5;importin subunit alpha-1;importin subunit alpha-5;importin-alpha-S1;karyopherin subunit alpha-1;nucleoprotein interactor 1;recombination activating gene cohort 2 APPROVED protein-coding ENSG00000114030 6394 02819 600686 REVIEWED 1315261 KPNA6 karyopherin alpha 6 (importin alpha 7) Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008] 1 1 p35.1 32346231 32414756 + 32573644 32642169 + 1580863;6480464 10366569;9918876;9603322;9593140;9562972;9557700;9548947;9463369;9366553;9303297;9282826;9275210;9008157;8955125;8876228;8659115;8552640;8551560;8529100;8105392;8041786;8041734;7859280;7745752;7585960;7494303;2064827;1631159;15037073;17353931;17981117;9395085;16713569;16344560;16298512;15489334;15342556;14743216;14702039;12477932;12414950;12368302;11904219;11751052;11389849;11278458;11035935;10964507;10888652;10860744;10822175;10525473;10523667;21145461;17643375;20936779;22939629;21383067;10801418;22863883;20360068;21697133;21139048;21555454;21890473;21906983;21963094;19270695;19322201;17306895;22174317;22928108 23633 F5GYL8;F5H4G7;O60684;Q5TFJ7 AB621806;ABBA01023438;ABBA01023439;AF060543;AK000724;AK002111;AK128609;AK295615;AK301714;AK315490;AL049795;AL445248;AMYH01000465;AU142228;BC020520;BP374991;BT009843;CH471059;NM_012316 AAC15233;AAH20520;AAP88845;ABM82513;ABM85707;BAG37874;BAG58497;BAG63185;BAK64142;EAX07567;EAX07568;EAX07569;NP_036448;O60684 Hs.470588;Hs.711019 1658672;1719941;1797804;1850128;1850130;2166215;2169144;2170613;5022200;5112017 A005X47;G20585;G44365;KPNA6_1800;L18426;RH123949;RH66672;RH67781;SHGC-74528;SHGC-74534 FLJ11249;IPOA7;KPNA7;MGC17918 OTTHUMP00000004532;OTTHUMP00000009075;importin alpha 7 subunit;importin subunit alpha-7;importin-alpha-S2;karyopherin subunit alpha-6 APPROVED protein-coding ENSG00000025800 6399 09465 610563 REVIEWED 5508274 KRBOX1-AS1 KRBOX1 antisense RNA 1 3 42975736 42978279 - 14702039 100506275 ABBA01024760;AC092043;AK057338;AMYH01013116;XR_110049;XR_112466;XR_171375 Hs.517918 FLJ32776 APPROVED miscrna ENSG00000206552 42942 MODEL 1603293 KRBA1 KRAB-A domain containing 1 7 7 7 q36 144081358 144100876 + 149043081 149062597 + 149412148 149431664 + 6480464 12477932;11347906 84626 A5PL33;C9J5U6;C9JYG0;H7C501;H7C530 AACC02000041;AB058765;ABBA01033636;ABBA01033637;AC004897;AL831935;AMYH01018123;BC033229;BC041587;BC142722;BC146667;BC150330;BC152409;BU557058;CH471146;NG_029620;NM_032534 A5PL33;AAH33229;AAH41587;AAI42723;AAI46668;AAI50331;AAI52410;BAB47491;EAL24434;EAW80035;EAW80036;EAW80037;NP_115923 Hs.299560 1681704;1706206;2167772 RH44264;RH92191;SHGC-80632 KIAA1862;MGC176633 KRAB A domain containing 1;OTTHUMP00000221104;OTTHUMP00000221105;protein KRBA1 protein-coding ENSG00000133619 22228 11167 VALIDATED 1603590 KRBA2 KRAB-A domain containing 2 17 17 17 p13.1 8302733 8305618 - 8212698 8215583 - 8271973 8274858 - 12477932 124751 A8MX02;Q6ZNG9 ABBA01054914;ABBA01054915;AC135178;AK131219;AMYH01008090;BC024723;BC033390;NM_213597 AAH33390;AAI46331;AAI48757;BAD18406;NP_998762;Q6ZNG9 Hs.304604 5020948;5024039 D16S325;G35510 KRAB A domain containing 2;KRAB-A domain-containing protein 2;OTTHUMP00000163762 protein-coding ENSG00000184619 26989 14028 PROVISIONAL 1321189 KPTN kaptin (actin binding protein) 19 19 19 q13.32 44784164 44793281 - 52670212 52679333 - 47978400 47987521 - 1580863;6480464 10099934;17353931;1372044;16344560;15489334;14702039;12477932;11409409;8125298;12019562;21832049 11133 B4DQ76;M0QXX4;M0QZ83;M0R238;Q9Y664 ABBA01041040;AC073548;AF105369;AF243529;AK023996;AK225419;AK298672;AMYH01009884;AMYH01009885;BC009249;BG388698;CH471126;DA824599;NM_007059 AAD39358;AAF98790;AAH09249;BAG51248;BAG60838;EAW57487;NP_008990;Q9Y664 Hs.25441 2114698;2167478;5017659 KPTN;SHGC-2349;STS-Z41308 2E4 actin-associated protein 2E4;kaptin;kaptin (actin-binding protein) protein-coding ENSG00000118162 6404 17241 VALIDATED 737037 KPNB1 karyopherin (importin) beta 1 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 17 17 q21.32 43082274 43116003 + 45727275 45761004 + 1580863;6480464 13679510;12764225;12614157;12551970;12504010;12477932;12414950;12368302;12176322;12135354;12095920;12062430;12011095;11751052;11401507;11389849;11323423;11310559;11297531;11278458;11257130;11035935;10965137;10951564;10929717;10888652;10860744;10846168;10822175;10811646;10779340;10772949;10749866;10525473;10523667;10473610;10397761;10367892;10366569;10353244;10228156;10209022;10037787;9891056;9891055;9817747;9687515;9670026;9621063;9582382;9562972;9463369;9436978;9435235;9430704;9398662;9366553;9323134;9275210;9275187;9261175;9214382;9144189;7627554;11984006;7615630;1985200;7559393;9405152;19117056;18398821;18238777;18028944;17916694;17646395;17596301;17537211;16982803;16704975;16552725;16380377;15964792;15795315;15572412;15494309;15489334;15388255;15383276;15342649;15297880;15282309;15231748;15194443;15037768;14718574;17609381;21145461;21319273;21965294;14600264;17053781;18655775;19454010;9102465;9045717;8692944;8617227;8617226;8576188;8105392;1631159;16354571;11283257;11266456;10202161;15889150;15864302;8896452;9135132;17172643;15870280;16115628;17148452;17643375;17938174;18162579;19884259;20085707;19925438;20711181;12894213;16226712;18258596;20603015;21209321;17573780;17855385;21278340;16344560;20658144;21630149;20811636;16314522;23012356;22863883;22939629;22990118;23022380;15047060;17314511;18029348;19156129;16196087;21625522;21832065;17620599;20547757;22321063;22586326;8909533;22125623;22145905;19596686;19765186;19801544;20360068;20639865;21081666;21139048;21890473;21900206;21906983;21987572;22178446;22222486;22020938;22190364;11024021;22415091;11032817;12783858;19322201;21628590;10668806;15851029;22500989;10944119;17661632;18051367;18445273;18854154;19149558;19275582;20015032;21321119;21326825;21401918;22053931;22174317;22355797;22417684;22422068;22442722;22509482;22952844 3837 B7Z752;B7ZAV6;F5H4R7;J3KS06;J3KTM9;J3QKQ5;J3QR48;J3QRG4;Q14974 ABBA01041138;ABBA01041139;AC015674;AC025682;AI076614;AK299145;AK301463;AK314780;AK316421;AMYH01008450;BC003572;BC024045;BC036703;BE046507;BQ009884;BT009797;CH471109;CS531808;DB083013;L38951;L39793;L39924;NM_001276453;NM_002265 AAA82869;AAC41763;AAH03572;AAH24045;AAH36703;AAP88799;ABM83789;ABM87111;BAG37316;BAH12957;BAH13488;BAH14792;CAM84939;EAW94807;EAW94808;EAW94809;EAW94810;NP_001263382;NP_002256;Q14974 Hs.532793;Hs.706168 1668948;1677662;1713457;1797806;5119476;5124246 D11S4360;KPNB1_2429;RH119587;RH68781;SHGC-2553;STS-H47054 IMB1;IPO1;IPOB;Impnb;MGC2155;MGC2156;MGC2157;NTF97 OTTHUMP00000035030;PTAC97;importin 1;importin 90;importin beta-1 subunit;importin subunit beta-1;importin-90;karyopherin subunit beta-1;nuclear factor p97;pore targeting complex 97 kDa subunit APPROVED protein-coding 6400 04114 602738 REVIEWED 5130419 KRBOX1 KRAB box domain containing 1 3 3 p22.1 42915694 42922126 + 42977834 42984284 + 6480464 11181995;12477932;14702039;15489334;16641997;16344560 100506243 C9JBD0 ABBA01024760;AC092042;AC092043;AK130974;AMYH01013116;BC041820;BC062786;BC103985;BC103986;BC103987;BC118551;BC118662;CH471055;DA207522;DB458286;NM_001205272 C9JBD0;EAW64686;EAW64687;NP_001192201 Hs.720172;Hs.729533 5125044 RH94071 FLJ27464;FLJ51974;MGC141710 KRAB box domain containing 1;KRAB domain-containing protein 1;OTTHUMP00000209910;OTTHUMP00000209912 protein-coding ENSG00000240747 38708 VALIDATED 1605393 KRCC1 lysine-rich coiled-coil 1 2 2 2 p11.2 88430632 88459116 + 88107839 88136363 - 88326724 88355248 - 6480464 12477932;19322201;19414484;17207965 51315 Q9NPI7 ABBA01018803;AC108479;AF208845;AF217520;AK025986;AMYH01010627;BC015927;BC107580;CH471215;EF413023;NM_016618 AAF64259;AAF67631;AAH15927;AAI07581;AAY24007;ABN71577;ADQ31871;EAW77081;EAW77082;NP_057702;Q9NPI7 Hs.469254 2124841;2135074;2140901;2141800;2179124;2187106 RH36099;RH65756;RH68031;RH70764;RH77848;RH78740 CHBP2;FLJ22333 OTTHUMP00000160832;cryptogenic hepatitis binding protein;cryptogenic hepatitis-binding protein 2;lysine-rich coiled-coil protein 1 protein-coding ENSG00000172086 28039 11269 PROVISIONAL 1351218 KRN1L keratin, cuticle, ultrahigh sulphur 1-like 3847 6410 1350859 KRAS Kirsten rat sarcoma viral oncogene homolog This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008] 12 12 p12.1 25249447 25295121 - 25358180 25403854 - 1581756;1581769;1600469;1581757;1581768;1600465;1600466;1600467;1600468;1600471;1600472;1600477;1600476;1600499;1581761;2314907;2314910;2314911;2314912;2314913;2314914;2314909;2314838;628557;2306732;2314836;2314915;4143515;5133242;5490965;5490966;5686410;6480464;6907045;7240710 16321859;15280162;8955068;15864294;15210703;11745231;3627975;1553789;7773929;16474404;16474405;17056636;16247081;10775052;11115351;19960433;19542870;19430562;19419940;19117991;11851621;19820367;14984964;12388314;16112461;19303097;8816895;19078924;20951313;19506583;18772397;22177953 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3845 G3V4K2;G3V5T7;L7RSL8;P01116 AA812162;ABBA01068017;ABBA01068018;AC087239;AC092794;AF285779;AF493917;AI539465;AK292510;AMYH01004339;BC010502;BC013572;BC029545;BG258021;BT007153;CH471094;EU332849;HC464412;HC464568;HD032929;JX512447;K03210;L00044;L00045;L00048;L00049;M17087;M26261;M34904;M35504;M35505;M54968;NG_007524;NM_004985;NM_033360;S64261;X01228;X01669;X02825 AAA35689;AAA35690;AAA36148;AAA36149;AAA36554;AAA36555;AAB41942;AAB59444;AAB59445;AAD13953;AAF91482;AAH13572;AAM12631;AAP35817;ABM81575;ABM84755;ABY87538;AGC09594;BAF85199;CAA25828;CAA26593;CBK51852;CBK51925;CBV35640;EAW96511;EAW96512;EAW96513;EAW96514;NP_004976;NP_203524;P01116 Hs.505033 1678033;1679820;1694954;1725789;1741007;1741045;1741049;1741053;1741055;1741067;1741187;1741591;1741695;1741739;1743817;1743989;1744927;1745589;1791908;1792962;1796236;2128020;2146675;5016851;5119841 Bda12d09;G44377;G62075;GDB:177365;GDB:177517;GDB:177536;GDB:177540;GDB:177541;GDB:177572;GDB:178532;GDB:181550;GDB:182132;GDB:182546;GDB:182559;GDB:374084;GDB:384734;GDB:581120;GDB:625317;KRAS2_909;PMC130963P3;PMC17763P1;RH65999;RH80031;SHGC-33831;SHGC-64023 C-K-RAS;CFC2;K-RAS2A;K-RAS2B;K-RAS4A;K-RAS4B;KI-RAS;KRAS1;KRAS2;NS;NS3;RASK2 GTPase KRas;K-Ras 2;K-ras p21 protein;Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog;OTTHUMP00000245391;OTTHUMP00000245393;PR310 c-K-ras oncogene;c-Ki-ras;c-Kirsten-ras protein;cellular c-Ki-ras2 proto-oncogene;oncogene KRAS2;transforming protein p21;v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog;v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog APPROVED protein-coding ENSG00000133703 6407 01817 109800;114480;115150;137215;163200;190070;211980;260350;609942;615278 REVIEWED 5128957 KRR1P1 KRR1, small subunit (SSU) processome component, homolog (yeast) pseudogene 1 13 13 1705945 1708094 - 20644127 20646276 - 100422486 ABBA01068574;AL137119;AMYH01004942;NG_024834 1651114 RH47132 pseudo 39580 INFERRED 1601992 KRBOX4 KRAB box domain containing 4 This encodes a zinc finger protein with an N-terminal KRAB (Kruppel-associated) domain found in transcriptional repressors. This gene is located in a region of the X chromosome thought to be involved in nonsyndromic X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X p11.3 50498482 50525919 + 46191703 46219018 + 46306624 46334074 + 6480464 16344560;15772651;15489334;14702039;12477932;11944989;16385466 55634 C9J804;C9J950;Q5JUW0 ABBA01052208;ABBA01052209;ABBA01052210;ABBA01052211;ABBA01052212;ABBA01052213;AK000351;AK096413;AK097159;AK289703;AL139811;AMYH01022249;BC012569;CH471164;CS185620;DA152034;DA631861;DA877282;NG_022935;NM_001129898;NM_001129899;NM_001129900;NM_017776 AAH12569;BAA91104;BAF82392;BAG53284;CAJ42801;EAW59261;EAW59262;EAW59263;NP_001123370;NP_001123371;NP_001123372;NP_060246;Q5JUW0 Hs.632800 1685674;1686414;1698080;1778292;2155521;5020948 G35510;RH102572;RH26488;RH47775;RH65117;STS-N30728 FLJ20344;RP4-733D15.4;ZNF673 KRAB box domain-containing protein 4;KRAB domain-containing protein 4;OTTHUMP00000023183;OTTHUMP00000023184;OTTHUMP00000216114;OTTHUMP00000216115;OTTHUMP00000216116;OTTHUMP00000216117;protein ZNF673;putative zinc finger transcription factor;zinc finger family member 673;zinc finger protein 673 APPROVED protein-coding ENSG00000147121 26007 06530 300585 REVIEWED 1321902 KREMEN2 kringle containing transmembrane protein 2 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 16 16 16 p13.3 3219663 3223827 + 2954218 2958382 + 3014217 3018384 + 1580863;2301921;6480464 17143291 16303743;15489334;14702039;12477932;12050670;8125298;20846389;21139048 79412 Q53F67;Q8NCW0 AB086355;AB086356;AB086357;AB086405;ABBA01026723;AC004235;AK027669;AK075033;AK223422;AK301953;AMYH01007086;BC003533;BC009383;CH471112;NM_001253725;NM_001253726;NM_024507;NM_172229 AAH03533;AAH09383;ABM87446;BAB55281;BAC00823;BAC00824;BAC00825;BAC00872;BAC11365;BAD97142;BAG63368;EAW85445;EAW85446;EAW85447;EAW85448;EAW85449;NP_001240654;NP_001240655;NP_078783;NP_757384;Q8NCW0 Hs.661128 KRM2;MGC10791;MGC16709 OTTHUMP00000159226;OTTHUMP00000159227;dickkopf receptor 2;kremen protein 2;kringle domain-containing transmembrane protein 2;kringle-containing protein marking the eye and the nose APPROVED protein-coding ENSG00000131650 18797 13933 609899 REVIEWED 733267 KREMEN1 kringle containing transmembrane protein 1 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 13268961 13364205 + 27799106 27872808 + 29469066 29564321 + 633127;1580863;2301921;6480464 11267660;17143291 18538647;18502762;15489334;15146197;14702039;12477932;12050670;10737800;10591208;19453261;20634891;20153141;20379614;20935629;20846389;17804805;23041840 83999 C1P671;H7BZ87;Q9UGU1 AB059618;ABBA01055254;ABBA01055255;ABBA01055256;ABBA01055257;AI085656;AK056425;AK172861;AL021393;AL533967;AMYH01012694;AMYH01012695;BC063787;BE706705;BG743250;BX433015;BX451207;CB266010;CH471095;CN310838;NM_001039570;NM_032045;Z95116 AAH63787;BAB40969;BAB71180;BAD18817;EAW59773;EAW59774;EAW59775;NP_001034659;NP_114434;Q96MU8 Hs.229335 1339118;1686798;1747391;1747393;1747395;1747411;1747419;1778720;2156794;2180030;5014051;5014053;5015619;5037552;5109281 AFM284VA9;D11S3114;D1S1425;D1S3693;D22S1113;D22S1150;D22S991E;D8S2278;D8S2279;G65332;G65333;G65395;G65396;G65397;HSC0WE122 FLJ31863;KREMEN;KRM1 OTTHUMP00000028977;OTTHUMP00000164979;OTTHUMP00000198939;dickkopf receptor;kremen protein 1;kringle domain-containing transmembrane protein 1;kringle-coding gene marking the eye and the nose;kringle-containing protein marking the eye and the nose APPROVED protein-coding ENSG00000183762 17550 11182 609898 REVIEWED 1312464 KRT12 keratin 12 KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008] 17 17 q12 36270956 36276988 - 39017430 39023462 - 1600169;1580863;6480464;7240710 9171831 18661274;18245975;17653038;16831889;16352477;16227835;15148206;12665801;12543196;10781519;10644419;9399908;8759347;20577595;21800051;21906983;22178446;21987572;23222558;19380743;23233254 3859 Q99456 AB007119;ABBA01031821;AC004231;AF137286;AK313747;AMYH01008385;CH471152;CV573989;D78367;NG_008077;NM_000223 AAF61432;AAI56642;BAA11376;BAA25063;BAG36487;EAW60685;NP_000214;Q99456 Hs.66739 2107257;2177290 KRT12_2910.2;RH46938 K12 CK-12;OTTHUMP00000164524;cytokeratin-12;keratin, type I cytoskeletal 12;keratin-12 APPROVED protein-coding ENSG00000187242 6414 03405 122100;601687 REVIEWED 1351826 KRT122P keratin 122 pseudogene 12 12 12 q13 51460008 51464728 + 50943832 50948548 + 52657565 52662281 + 16831889;10692104 85348 ABBA01031630;AC021066;AMYH01004471;NG_000943;Y19215 HBC;KRTHBP3 keratin, hair, basic, pseudogene 3 pseudo 30197 INFERRED 1607005 KRI1 KRI1 homolog (S. cerevisiae) This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10558477 10571446 - 10524761 10537702 - 10663761 10676702 - 6480464 19240061;16344560;14702039;12878157;12477932;8889548;16169070;19615732;22990118;19471022;21139048;21628590;22586326 65095 D3YTE0;F8WFC1;H0YFD2;H0YG91;H0YG97;H0YH26;Q8N9T8 ABBA01029913;ABBA01029914;AC011461;AC011475;AK023011;AK025907;AK093879;AK097181;AK300780;AK300850;AL833189;AMYH01009477;AU280109;BC002890;BC009303;BC009876;BC112249;BC112251;BC143770;BM676050;CH471106;DA438802;NM_023008 AAH02890;AAH09876;AAI12250;AAI12252;AAI43771;AAI66660;BAB14357;BAB15278;BAC04240;BAG62444;BAG62501;EAW84120;EAW84121;NP_075384;Q8N9T8 Hs.709967 1676344;1793886;1797386;2137581;2148559;2152414;5022651 CDKN2D_1963;D11S2921;PMC303366P8;RH18055;RH66593;RH94334;SHGC-35402 FLJ12949 OTTHUMP00000197114;OTTHUMP00000197116;protein KRI1 homolog APPROVED protein-coding ENSG00000129347 25769 10969 VALIDATED 1347780 KRT124P keratin 124 pseudogene 12 12 12 q13 52453802 52459181 - 51093912 51099291 - 52807645 52813024 - 16831889;10692104 85340 ABBA01008292;AC055736;AMYH01004472;NG_000938;Y19213 HBA;KRTHBP1 keratin, hair, basic, pseudogene 1 pseudo 30195 INFERRED 1345423 KRT123P keratin 123 pseudogene 12 12 12 q13 52380934 52394400 + 51021048 51034514 + 52734781 52748247 + 16831889;10692104 85344 ABBA01008291;AC078865;AC121757;AMYH01004472;NG_000940;Y19214 HBB;KRTHBP2 keratin, hair, basic, pseudogene 2 pseudo 30196 INFERRED 7247018 KRT125P keratin 125 pseudogene 100418828 ABBA01008295;AC055716;AMYH01004474;NG_024014 pseudo 48875 INFERRED 1606053 KRT126P keratin 126 pseudogene 12 12 12 q13.13 52754153 52761818 - 51394089 51401954 - 53107922 53115587 - 16831889;15085952 643865 ABBA01008295;AC055716;AMYH01004474;BK003989;NG_005685 1340307;1758947;7187527 D12S96;SHGC-151055 KRT pseudo 32970 INFERRED 5131803 KRT127P keratin 127 pseudogene 12 12 52793322 52794059 - 53147095 53147832 - 100418779 ABBA01008295;AC055716;AMYH01004474;NG_024015 APPROVED pseudo 40019 INFERRED 1314251 KRIT1 KRIT1, ankyrin repeat containing This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 7 7 q21.2 91666219 91713350 - 91828283 91875414 - 1358458;1598379;1580863;6480464;7240710 14755725;15079030 16037064;9285558;19199464;19092252;19088124;19088123;18812969;18300272;17954608;17562932;17440989;17290187;17148043;17043900;16769843;16712798;16529293;16373645;16321204;16239636;15718512;15489334;15046662;14702039;12877753;12853948;12810002;12690205;12682320;12477932;12204286;12172908;12140362;11941540;11914398;11854171;11831930;11741838;11342228;11161805;11161791;10814716;10545614;10508515;8530042;7604043;12911633;17657516;19182478;19453802;19454328;19833796;20308363;20379614;20798775;20306072;20689144;20419355;21029238;20884211;21633110;17568776;17916086;22577140;10747990;12724311;12821674;12925680;14594800;20301470;23317506 889 A4D1F7;C9J3W7;C9J718;C9JBN7;C9JD43;C9JD81;C9JEW7;C9JF32;C9JI47;C9JIY2;C9JJM9;C9JSG7;C9JXI9;Q9HAX5 AACC02000014;ABBA01045806;ABBA01045807;AC000120;AF296765;AF310133;AF388384;AJ294850;AK055305;AK056537;AK226131;AL049325;AMYH01017690;AY380057;AY380058;AY380059;AY380060;AY993944;AY993945;BC094684;BQ070587;BX648659;CH236949;CH471091;NG_012964;NM_001013406;NM_004912;NM_194454;NM_194455;NM_194456;U90268;U90269 AAB58582;AAC01535;AAG10220;AAG47774;AAH94684;AAM19465;AAQ94072;AAQ94073;AAQ94074;AAQ94075;AAS07420;AAY25567;AAY25568;BAG51497;BAG51741;CAC17608;EAL24152;EAW76854;EAW76855;NP_001013424;NP_004903;NP_919436;NP_919437;NP_919438;O00522 Hs.531987 1711484;1847930;2219048;5020948 CCM1__4528;D7S535E;G35510;G49243 CAM;CCM1 OTTHUMP00000161833;OTTHUMP00000208802;OTTHUMP00000208803;OTTHUMP00000208804;ankyrin repeat-containing protein Krit1;cerebral cavernous malformations 1;cerebral cavernous malformations 1 protein;krev interaction trapped 1;krev interaction trapped protein 1 APPROVED protein-coding ENSG00000001631 1573 05020 116860;604214 REVIEWED 1342709 KRT14L1 keratin 14-like 1 (20kb) 1694815 3863 6417 1353533 KRT14L2 keratin 14-like 2 (10kb) 1694815 3864 6418 1350748 KRT14L3 keratin 14-like 3 (6.6kb) 1694815 3865 6419 1348943 KRT121P keratin 121 pseudogene 12 12 12 q13 51445848 51455571 - 50929672 50939395 - 52643405 52653128 - 16831889;10692104;15489334;16541075 85349 A6NCN2 ABBA01031630;AC021066;AMYH01004471;NG_000944;Y19216 A6NCN2 HBD;KRTHBP4 keratin, hair, basic, pseudogene 4 pseudo 30198 VALIDATED 1343206 KRT15L keratin 15-like 3867 6422 1346930 KRT1 keratin 1 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 q13.13 51354787 51360458 - 53068520 53074191 - 1600166;1580863;6480464;7240710 11286616 21145461;11204562;10942575;10903910;10844506;10688370;10597140;10232403;10066772;10053007;9856846;9520414;9261168;8999895;8780679;7687781;7536183;7528239;7512983;7507152;7507151;2581964;2580302;2470667;2461420;2450142;1602151;11290596;1380725;11549596;1381288;19515043;18795921;18637039;16831889;16789827;16565220;16417221;16361731;16344560;15797458;15489334;15324660;12665801;12648226;12603866;12477932;12406348;12406346;12064938;11982762;11897493;11841545;11591653;11531804;11286630;1284546;1281859;14499622;17373842;17668073;19470048;19494018;20500210;23084401;21271994;22250628;22939629;16944923;21151833;21800051;21912905;22348822;15174051;16212417;19738201;20972266;21565611;21890473;21963094;21987572;22623428;22936677;22178446;21906983;17361108;21907836;17361185;23132931;23398456;19380743;21853274;23182068 3848 P04264 ABBA01008294;AC055716;AF237621;AF304164;AK313986;AMYH01004474;BC063697;CH471054;DB112126;HI573920;JN866515;JN866516;JN866517;JN866518;JN866519;JN866520;M10938;M98776;NG_008364;NM_006121;X69725;X69758 AAA36153;AAB47721;AAF60327;AAG41947;AAH63697;AFA52002;AFA52003;AFA52004;AFA52005;AFA52006;AFA52007;BAG36698;CBX47449;EAW96642;NP_006112;P04264 Hs.80828 1656426;1732335;1742065;2183237 D12S757;GDB:190621;RH17765;WI-17855 CK1;EHK;EHK1;EPPK;K1;KRT1A;NEPPK 67 kDa cytokeratin;CK-1;OTTHUMP00000241991;cytokeratin 1;cytokeratin-1;epidermolytic hyperkeratosis 1;hair alpha protein;keratin, type II cytoskeletal 1;type-II keratin Kb1 APPROVED protein-coding ENSG00000167768 6412 00763 113800;139350;144200;146590;600962;607602;607654 REVIEWED 1350330 KRT16L1 keratin 16-like 1 (16kb) 2451124;1694815 3869 6424 1352785 KRT16L2 keratin 16-like 2 (11kb) 1694815 3870 6425 1343343 KRT16P1 keratin 16 pseudogene 1 1281771 3871 6426 1354100 KRT16P1 keratin 16 pseudogene 1 17 17 p11.2 18283916 18286933 + 18343160 18345657 + 729252 AK301679;AL353997;AMYH01008175;NR_073414 BAG63152 Hs.585811 5023288 G16019 FLJ56791;KRT14P;KRT16P APPROVED pseudo 6420 VALIDATED 1314657 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12 12 12 q21.2 75558782 75572781 - 74177686 74191685 - 75891419 75905418 - 6480464 15590835;17081983;16341674;16189514;15635413;15489334;14702039;12887920;12477932;12429849;11790298;11359931;11027267;8675026;7505766;15832179;21145461;19913121;20628086;19615732;22990118;16127453;18029348;22586326;21628590;19471022;21139048;21890473;21906983;21358275;22944692 11103 Q13601 ABBA01026469;AC022507;AC121761;AK022133;AK297602;AK313687;AMYH01004593;BC005225;BC014034;BC016778;BC026107;BC033887;BM839950;CH471054;EF010919;NM_007043;U55766 AAB00557;AAH05225;AAH16778;AAH26107;AAH33887;ABJ97679;ABM84478;ABM84479;ABM84480;ABM87514;BAG36436;BAG59987;EAW97309;NP_008974;Q13601 Hs.645517 1651114;1669090;1681510;1739609;1746277;1858144;2118221;2123715;2148384;2181702;2187190;5017863 D12S1480E;G35331;G64412;KRR1;RH149;RH18004;RH46985;RH47132;RH91538;SGC32697;STS-H56474;STS-N32834 HRB2;RIP-1 HIV-1 Rev-binding protein 2;KRR-R motif-containing protein 1;KRR1 small subunit processome component homolog;OTTHUMP00000242003;OTTHUMP00000242004;Rev interacting protein;rev-interacting protein 1 protein-coding ENSG00000111615 5176 11027 612817 VALIDATED 1354394 KRT10 keratin 10 This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008] 17 17 q21 36227895 36232373 - 38974369 38978863 - 1600168;1580863;6480464;6907045;7240710 7512983 17373842;2459124;1380725;19515043;18637039;18559605;18259765;18219278;17562024;17542994;16888010;16831889;16505000;15952740;15527767;15489334;15254692;14705805;12566451;12477932;12429849;12427098;12234709;11585925;10542138;10201536;10098704;9856845;9036939;8999895;7526210;7513736;7509230;7508181;7507152;7507150;7504553;2465278;21145461;2464696;2461420;2448602;2182100;1602151;1381287;1378806;1371013;1286667;14645504;20798280;19443303;19474805;19776502;19904223;20391533;23084401;21271994;22939629;23121977;23182068;21615674;16944923;17342744;21151833;21800051;21906983;22178446;21907836;17361185;15174051;17868192;19738201;19805454;21565611;21987572;22623428;22734720;19380743 3858 P13645 ABBA01031821;AC090283;AMYH01008384;AMYH01008385;BC034697;CH471152;CU455823;J04029;L20218;L20219;M19156;M77663;NG_008405;NG_033147;NM_000421;X14487 AAA59199;AAA59468;AAA60544;AAB59438;AAB59439;AAH34697;ABM84282;ABM87674;CAA32649;EAW60680;EAW60681;NP_000412;P13645 Hs.99936 1663795;1683397;1742063;1742315;1742411;1742441;1850425;2107255;2144235 DXS8276;GDB:190618;GDB:196333;GDB:196685;GDB:196997;KRT10_7811;RH75831;STS-M77663;STS-X14487 BCIE;BIE;CK10;EHK;K10;KPP CK-10;OTTHUMP00000165049;cytokeratin 10;keratin, type I cytoskeletal 10;keratin-10 APPROVED protein-coding ENSG00000186395 6413 01021 113800;148080;607602;609165 REVIEWED 3255328 KRT16P2 keratin 16 pseudogene 2 17 17 p11.2 16673882 16676893 - 16733797 16736147 - 400578 AC022596;AK304304;AMYH01008152;NR_029392 BAG65157 Hs.723586 5023288 G16019 FLJ53570 pseudo ENSG00000227300 37807 VALIDATED 2838287 KRT16P4 keratin 16 pseudogene 4 17 17 p11.2 18293891 18295497 + 18353267 18354673 + 11997339 339244 AL353997;AMYH01008175;NG_002779 pseudo 37809 INFERRED 2859651 KRT16P5 keratin 16 pseudogene 5 17 17 p11.1 20336846 20338452 - 20396354 20397760 - 11997339 353196 AC015818;AMYH01008249;NG_002782 pseudo 37810 INFERRED 1353793 KRT17P1 keratin 17 pseudogene 1 17 p11.2 16745277 16749250 - 1281771;11997339;1281771 147228;3873 ABBA01009769;AC022596;AMYH01008152;AMYH01008153;NG_002775 pseudo 6428 INFERRED 1352458 KRT17P2 keratin 17 pseudogene 2 17 17 p11.2 18270866 18275053 + 18330120 18334094 + 11997339;1281771 339241 AL353997;AMYH01008172;NG_002778 pseudo 6429 INFERRED 2292114 KRT17P3 keratin 17 pseudogene 3 17 17 17 q11.2 25756427 25760382 - 25918884 25922981 - 28894778 28898859 - 729682 ABBA01015000;AC011840;AMYH01008304;NG_009683 1676119 RH98412 pseudo 33697 INFERRED 1316671 KRT14 keratin 14 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008] 17 17 q21.2 36992059 36996673 - 39738531 39743147 - 1600173;1600174;1600175;1580863;6480464;7240710 1717157;16140947;15809047 16960809;11684708;7525408;11724817;7679677;19651890;19515043;19461998;19190970;19032382;18723014;18717745;18701433;18505935;18364388;18049449;18005116;17891046;17659012;17373842;17159913;17039244;10583131;9989794;9804357;9804355;9457912;9284105;8875963;8636216;8601736;7688405;7682883;7561171;7526933;7526926;7506606;7506097;6210150;6186381;2580298;2451124;2442174;1720261;1713141;10730767;16831889;16786515;16344560;16098032;15731013;15654986;15489334;14987259;14660619;12930305;12802069;12707098;12655565;12603865;12477932;12230514;12165543;11973334;11710919;10971341;10852826;10820403;10733662;16882168;21413954;20634891;21623745;20936779;15731016;16757171;18029348;19616543;19776502;19797037;19847192;19854623;20060687;20147963;20151404;20030639;21145461;21375516;20199538;22911849;23084401;22832485;22939629;21151833;21734713;21593775;15717329;21223690;22277943;21906983;21062750;21900500;22178446;22363617;20301543;15174051;21565611;21987572;21988832;19380743;22577164 3861 P02533;Q13092 ABBA01031809;AC019349;AF186085;AF186086;AF186087;AF186088;AF186089;AF186090;AMYH01008387;BC002690;BC019097;BC042437;BC094830;BT007186;CH471152;DB018715;J00124;M28646;NG_008624;NM_000526;U11076 AAA96689;AAB59562;AAF04034;AAF04035;AAF04036;AAF04037;AAF04038;AAF04039;AAH02690;AAH19097;AAH42437;AAH94830;AAP35850;ABM81659;ABM83923;ABM84831;EAW60745;EAW60746;EAW60747;EAW60748;NP_000517;P02533 Hs.654380 1298308;1335434;1342037;1742339;1744217;2134454;5023288;7185584 D17S800;D17S933;D17S934;G16019;GDB:196353;GDB:437754;SGC35551 CK14;EBS3;EBS4;K14;NFJ CK-14;OTTHUMP00000164624;cytokeratin 14;cytokeratin-14;keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner);keratin, type I cytoskeletal 14;keratin-14 APPROVED protein-coding ENSG00000186847 6416 01017 125595;131760;131800;131900;148066;161000;601001 REVIEWED 1349327 KRT18P1 keratin 18 pseudogene 1 6 6 6 p21.2 30542960 30544357 - 29044783 29046255 - 28936847 28938244 - 8824804 3879 ABBA01038029;AL662791;AL662865;AL929561;AMYH01016195;BX248109;BX927167;NG_001024;Z84476 dJ25J6.3 pseudo 6434 INFERRED 1346138 KRT18P10 keratin 18 pseudogene 10 Y Y p11.2 5501037 5502629 + 5441130 5442529 + 12815422;9847074 360019 AC012667;NG_002937;NG_011652 2146914;2188181 DXYS12;G66253 pseudo 23962 INFERRED 1349257 KRT13 keratin 13 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008] 17 17 q21.2 36910759 36915391 - 39657233 39661865 - 1304472;1580863;6480464;7240710 7493031 18951949;17081983;16949723;16831889;15489334;14702039;14600690;12477932;11906920;11591653;11379896;10722565;10561721;9714826;9284906;8125298;6205395;2483837;2477803;2475110;2472374;1385351;21145461;1385306;16836912;19776502;19489262;20936779;21738394;15174051;21565611;21139048;21371075;22301701;19380743 3860 A1A4E9;K7EMD9;K7EMJ2;K7EQH6;K7ERE3;P13646 ABBA01031810;AC019349;AF049259;AK092276;AK223051;AK223077;AK290244;AK296806;AK309752;AMYH01008387;BC002661;BC077718;BC126184;BC136494;CH471152;DR422220;NG_008406;NM_002274;NM_153490;X14640;X52426 AAC35754;AAH02661;AAH77718;AAI26185;AAI36495;ABM81578;ABM84758;ADR83174;BAC03847;BAD96771;BAD96797;BAF82933;BAG59379;CAA32786;CAA36673;EAW60740;EAW60741;NP_002265;NP_705694;P13646 Hs.654550 1656332;1771716;2183847 D17S2048;RH18102;RH66395 CK13;K13;MGC161462;MGC3781 CK-13;OTTHUMP00000164632;OTTHUMP00000164633;cytokeratin 13;cytokeratin-13;keratin, type I cytoskeletal 13;keratin-13 APPROVED protein-coding ENSG00000171401 6415 01016 148065;193900 REVIEWED 1603421 KRT18P12 keratin 18 pseudogene 12 1 1 1 q41 187928901 187930280 + 212772161 212773437 + 214705488 214706867 + 643471 ABBA01048143;AL445305;AMYH01001720;NG_009710;NG_028036 pseudo 33410 INFERRED 1346728 KRT18P13 keratin 18 pseudogene 13 9 9 9 q22.33 70975391 70977320 + 99500122 99502904 + 100461154 100463083 + 22493691 392371 ABBA01042928;AL445531;AMYH01021555;NG_008362;NG_011642 KRT18L3 pseudo 6432 INFERRED 3378630 KRT16P3 keratin 16 pseudogene 3 17 17 p11.2 20345418 20348429 - 20404826 20407811 - 12477932;16344560;21906983 644945 ABBA01002177;AC015818;BC110641;DB013784;NR_029393 Hs.572477 5023288;5111500 G16019;SHGC-12962 MGC102966 pseudo ENSG00000214822 37808 VALIDATED 1349462 KRT18P14 keratin 18 pseudogene 14 11 11 11 p13 36028980 36030385 - 35838369 35839672 - 35881735 35883140 - 119722 ABBA01060852;AC090692;AMYH01003490;NG_007002 KRT18L4 pseudo 6433 INFERRED 1642764 KRT18P15 keratin 18 pseudogene 15 3 3 3 p22.3 32237770 32239176 + 32255827 32276797 + 32300375 32301781 + 729211 ABBA01024944;AC097639;AMYH01013058;NG_006999 KRT18L5 pseudo 32449 INFERRED 1605494 KRT18P16 keratin 18 pseudogene 16 5 5 5 q23.2 118927071 118928475 + 122999703 123014235 + 122971757 122973161 + 19578876 391827 ABBA01068936;AC008541;AMYH01015592;NG_009714 pseudo 33384 INFERRED 1605806 KRT18P18 keratin 18 pseudogene 18 16 16 16 q22.2 57078293 57079691 + 71320015 71321305 + 72762464 72763862 + 342374 ABBA01016805;AC004943;AMYH01007801;NG_009691 pseudo 33386 INFERRED 1605810 KRT18P19 keratin 18 pseudogene 19 2 2 2 q32.2 183771035 183772415 - 189884168 189885506 - 190175931 190177311 - 339781 ABBA01062377;AC118063;AMYH01011343;NG_009679 pseudo 33387 INFERRED 1346679 KRT18P2 keratin 18 pseudogene 2 21 21 21 q21.1 6968314 6969626 - 20719065 20720387 - 21797207 21798519 - 10830953 54044 ABBA01057153;AMYH01012158;AP001254;AP001679;NG_000918 pseudo 6435 INFERRED 1342638 KRT15 keratin 15 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008] 17 17 q21.2 36923524 36928666 - 39669997 39675270 - 1580863;6480464 16189514;2580298;2452170;19383306;19162247;18789069;16831889;15489334;15060141;14702039;12477932;10623642;10623468;10084315;6186381;2468493;2466616;2424675;1702379;22648550;20936779;20050020;20656376;20700038;21251039;21574054;21139048;21906983;22178446;22538425;10852826;19380743 3866 A8MT21;B3KRA2;B3KVF5;C9JTG5;K7EMX0;K7EQK9;P19012 ABBA01031810;AC019349;AF202320;AK090604;AK091239;AK122864;AK304059;AL832226;AMYH01008387;BC002641;BC110649;BT007261;CH471152;NG_012284;NM_002275;X07696 AAF27047;AAH02641;AAP35925;ABM83916;ABM87237;BAG52193;BAG52314;BAG53767;BAG64966;CAA30535;EAW60742;NP_002266;P19012 Hs.654570 1710674;2108195;2153045;2166014;5015619;5493906 D11S3114;KRT15_3016;Krt15;RH17477;SHGC-12347;SHGC-79605 CK15;K15;K1CO CK-15;OTTHUMP00000164634;OTTHUMP00000165060;OTTHUMP00000165061;cytokeratin 15;cytokeratin-15;keratin, type I cytoskeletal 15;keratin-15, basic;keratin-15, beta;type I cytoskeletal 15 APPROVED protein-coding 6421 01009 148030 REVIEWED 1606743 KRT18P20 keratin 18 pseudogene 20 12 12 12 q23.3 105035139 105036532 - 103894657 103895935 - 105370462 105371855 - 121054 ABBA01053189;AC090051;AMYH01004718;NG_009737 pseudo 33388 INFERRED 1604238 KRT18P21 keratin 18 pseudogene 21 4 4 4 q26 114134141 114135517 + 117061312 117062583 + 116841813 116843189 + 132391 ABBA01063855;AC093657;AMYH01014477;NG_009667 pseudo 33389 INFERRED 1606351 KRT18P23 keratin 18 pseudogene 23 22 22 22 q13.31 28874702 28876084 + 43272640 43342794 + 44962803 44964185 + 642448 ABBA01017862;AL022317;AL022333;AMYH01012838;NG_009711 1653358;1670626;1708030 AL021681;AL022550;SHGC-81379 pseudo 33392 INFERRED 1603853 KRT18P24 keratin 18 pseudogene 24 9 9 9 q21.31 52229014 52230409 - 80839472 80842446 - 81651269 81652664 - 21810271 340460 ABBA01033954;AL359642;AMYH01021438;NG_009744 pseudo 33393 INFERRED 1606354 KRT18P22 keratin 18 pseudogene 22 6 6 6 q22.1 117521490 117522885 - 116885179 116886461 - 116778423 116779818 - 442252 ABBA01026046;AMYH01016617;NG_021116;Z84488 pseudo 33390 INFERRED 1606084 KRT18P25 keratin 18 pseudogene 25 4 4 4 p14 40460651 40462037 + 39698255 39699538 + 40021812 40023198 + 391647 ABBA01004155;AC098591;AMYH01014123;NG_009739 pseudo 33394 INFERRED 1606103 KRT18P17 keratin 18 pseudogene 17 3 3 3 p25.2 12767126 12768511 - 12803826 12812026 - 12828834 12830219 - 344866 ABBA01025191;AC034198;AMYH01012988;NG_009663 pseudo 33385 INFERRED 1606042 KRT18P26 keratin 18 pseudogene 26 2 2 p13.1 74364981 74366325 - 74387296 74388643 - 729634 XR_039730 pseudo 33395 1605789 KRT18P27 keratin 18 pseudogene 27 13 13 13 q31.3 71728020 71729426 + 89680636 89681937 + 90882585 90883991 + 390418 ABBA01027249;AL354915;AMYH01005284;NG_009656 APPROVED pseudo 33396 INFERRED 1606653 KRT18P28 keratin 18 pseudogene 28 1 1 1 q25.3 156039260 156040653 - 181194832 181196427 - 182928154 182929547 - 343326 ABBA01027757;AL450304;AMYH01001551;NG_009661 pseudo 33397 INFERRED 1606054 KRT18P30 keratin 18 pseudogene 30 6 6 6 q14.3 86414332 86422566 + 86043862 86057340 + 85987143 85995378 + 6480464 643858 ABBA01040472;AL122016;AMYH01016480;NG_009655 1667269;1709130 D6S1216E;SHGC-85726 pseudo 33399 INFERRED 1342636 KRT18P3 keratin 18 pseudogene 3 20 20 20 p11.21 22786720 22788123 - 22661337 22662827 - 22713371 22714774 - 170527 ABBA01016172;AL158175;AMYH01011774;NG_001043 bA359G22.1 pseudo 16540 INFERRED 1605142 KRT18P31 keratin 18 pseudogene 31 5 5 5 p13.2 36772195 36773592 + 36921065 36922356 + 36885261 36886658 + 646723 ABBA01024176;AC026741;AMYH01015029;NG_006987;NG_007924 pseudo 33400 INFERRED 1603817 KRT18P32 keratin 18 pseudogene 32 1 1 1 q43 211908489 211909885 + 236721206 236722630 + 238654605 238656001 + 22310353 391179 ABBA01033201;AL359551;AMYH01001865;NG_009477 FLJ33910 pseudo ENSG00000215149 33401 INFERRED 1604126 KRT18P33 keratin 18 pseudogene 33 2 2 2 p14 65741439 65742805 + 65734145 65816988 + 65893562 65894928 + 647162 ABBA01075451;AC007389;AC007741;AMYH01010406;NG_008761 1336333 D2S2293 pseudo 33402 INFERRED 1606375 KRT18P34 keratin 18 pseudogene 34 3 3 3 q25.31 155304013 155305384 - 158363053 158364415 - 156880398 156881768 - 21441570 391589 ABBA01058835;ABBA01058836;AC104411;AMYH01013601;NG_009722 2187353 STS-N34441 pseudo 33403 INFERRED 1606376 KRT18P35 keratin 18 pseudogene 35 3 3 3 q23 139612943 139614345 - 142672157 142673432 - 141189390 141190792 - 391584 ABBA01059048;AC010184;AMYH01013542;NG_009721 pseudo 33404 INFERRED 1605770 KRT18P36 keratin 18 pseudogene 36 9 9 9 p21.1 30728691 30729618 - 30790051 30790800 - 30799856 30800783 - 442406 ABBA01065097;AL590726;AMYH01019315;NG_006016 pseudo 33405 INFERRED 1345926 KRT16 keratin 16 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] 17 17 q21.2 37019556 37022545 - 39766030 39769079 - 1600184;1580863;6480464;7240710 7539673 15731013;2451124;8595410;19515043;18557933;18496701;18489596;18005116;17719747;21145461;17623675;16831889;15731018;15489334;15239676;12954631;12477932;11886499;11840567;11359398;10844556;10839714;10606845;10521820;8636216;7509163;7487986;2431270;1286667;19785597;20722389;20403371;16341674;19759913;23084401;22668561;21160496;22939629;22098151;21139048;21906983;22178446;20301457;15174051;19738201;19805454;21565611;21987572;22623428;19380743;22264670 3868 K7ENV3;K7ENW6;P08779 ABBA01031808;AC130686;AF061809;AF061812;AK290853;AMYH01008387;BC039169;BM786499;CH471152;DC394235;M28432;M28433;M28434;M28435;M28436;M28437;M28438;M28439;NG_008301;NM_005557;S72493;S78514;S79867 AAA59460;AAB30058;AAB34564;AAB35421;AAC99326;AAD15829;AAH39169;ABM82233;ABM87817;BAF83542;EAW60749;NP_005548;P08779 Hs.655160 5023288;5111500 G16019;SHGC-12962 CK16;FNEPPK;K16;K1CP;KRT16A;NEPPK CK-16;OTTHUMP00000164740;cytokeratin 16;cytokeratin-16;focal non-epidermolytic palmoplantar keratoderma;keratin, type I cytoskeletal 16;keratin-16 APPROVED protein-coding ENSG00000186832 6423 01018 144200;148067;167200;600962;613000 REVIEWED 1605774 KRT18P38 keratin 18 pseudogene 38 6 6 6 p22.3 20851043 20852445 + 19647026 19722245 + 19612919 19614321 + 441133 ABBA01022244;AL022068;AMYH01016126;NG_009671 1647370;1708548;1709274;2154887;2168219;2190395 D6S1946;G17063;HSC236_(EPM2B-5);RH37428;SHGC-81801;SHGC-85053 pseudo 33407 INFERRED 1603490 KRT18P39 keratin 18 pseudogene 39 2 2 2 q33.2 198383808 198385192 - 204337263 204345353 - 204628956 204630355 - 344462 ABBA01062618;AC010138;AC125238;AMYH01011418;NG_008329 pseudo 33408 INFERRED 1604431 KRT18P37 keratin 18 pseudogene 37 8 8 8 p11.21 40317824 40319191 + 41487917 41489201 + 41368742 41370109 + 392214 ABBA01021131;AC009630;AMYH01018671;NG_009658 1664095 WI-14408 pseudo 33406 INFERRED 1351868 KRT18P4 keratin 18 pseudogene 4 20 20 20 q13.13 45277804 45279190 + 48006689 48007976 + 48573236 48574624 + 391256 ABBA01052763;AL031685;AMYH01011970;NG_001044 dJ963K23.1 pseudo 16604 INFERRED 1605495 KRT18P42 keratin 18 pseudogene 42 5 5 5 q21.3 104862832 104864200 + 108951939 108953257 + 108923990 108925361 + 19578876 391819 ABBA01069089;AC114287;AMYH01015545;NG_009708 2110855 D5S122 pseudo 33412 INFERRED 1604437 KRT18P40 keratin 18 pseudogene 40 19 19 19 p12 20978776 20981143 + 20929296 20938079 + 21143864 21146231 + 390904 ABBA01051363;AC008739;AMYH01009629;NG_008363 pseudo 33409 INFERRED 1604472 KRT18P41 keratin 18 pseudogene 41 5 5 5 q35.1 165599520 165600907 - 169500241 169508878 - 169567608 169568995 - 345430 ABBA01044101;AC008660;AMYH01015802;NG_009684 1336195;1698368;7185462 D5S397;RH102725 pseudo 33411 INFERRED 1604118 KRT18P29 keratin 18 pseudogene 29 2 2 2 q31.3 176421601 176422977 - 182534071 182535450 - 182825876 182827252 - 729050 ABBA01062291;AC009962;AMYH01011315;NG_009484 pseudo 33398 INFERRED 1604228 KRT18P43 keratin 18 pseudogene 43 3 3 3 q26.2 168020001 168021386 - 171103457 171104738 - 169620701 169622086 - 151825 ABBA01058701;AC008040;AMYH01013642;NG_009654 pseudo 33413 INFERRED 1605288 KRT18P44 keratin 18 pseudogene 44 X X X q25 128237299 128238680 + 127628390 127677449 + 127848427 127849808 + 6480464 139748 ABBA01047716;AL031903;AMYH01022959;CH471107;NG_008310 EAX11838 1659763;1670196;1694302;1748105;1857173;2115591;5019855;5092582;5092600 C031XF5;DXS7368;DXS7776;DXS7792;G42846;G54524;G54534;G54546;G65813 pseudo 33414 INFERRED 1605496 KRT18P45 keratin 18 pseudogene 45 5 5 5 q14.1 75485546 75486987 + 79620025 79621258 + 79584219 79585660 + 391803 ABBA01062033;AC026410;AMYH01015445;NG_009703 pseudo 33415 INFERRED 1606643 KRT18P46 keratin 18 pseudogene 46 2 2 2 q24.2 156046782 156048161 + 162144828 162146106 + 162436539 162437918 + 391458 ABBA01004888;AC062022;AMYH01011214;CH471058;NG_009012 EAX11366 pseudo 33416 INFERRED 1605192 KRT18P47 keratin 18 pseudogene 47 15 15 15 q26.1 65904261 65905652 + 87303997 87305288 + 89502951 89504342 + 390634 ABBA01053004;AC067805;AMYH01006912;NG_009743 pseudo 33417 INFERRED 1603493 KRT18P48 keratin 18 pseudogene 48 X X X q28 153102371 153104300 - 152521870 152523799 - 152868676 152870605 - 340598 AF274858;AMYH01023295;NG_006017 1680489;2145940 D5S2645;SHGC-67772 pseudo 33418 INFERRED 1345001 KRT18P5 keratin 18 pseudogene 5 22 22 22 q11.21 4323751 4325158 - 19167034 19168867 - 20837035 20838442 - 728300 ABBA01015454;AC007731;AMYH01012534;NG_007006 pseudo 19259 INFERRED 1603466 KRT18P49 keratin 18 pseudogene 49 X X X q22.3 107143223 107144116 + 106550172 106563022 + 106671857 106672750 + 392516 ABBA01035891;AL035088;AMYH01022828;NG_008327 2141573;2159581;2170655;2174594 AL022461;DXS7663;DXS7667;UniSTS:62823 pseudo 33419 INFERRED 1606356 KRT18P50 keratin 18 pseudogene 50 6 6 6 q16.1 97080097 97081426 + 96516120 96546871 + 96438948 96440277 + 6480464 442236 ABBA01014529;AL034348;AMYH01016526;CH471051;NG_008361 EAW48513 pseudo 33420 INFERRED 1605788 KRT18P51 keratin 18 pseudogene 51 4 4 4 q31.21 142821272 142822026 + 145689008 145713585 + 145493390 145494144 + 9847074 391703 ABBA01070017;AC106871;AMYH01014590;NG_007562 pseudo 33421 INFERRED 7247300 KRT18P57 keratin 18 pseudogene 57 643329 ABBA01068399;AL049557;AL139012;AMYH01000947;NG_022732 pseudo 48884 INFERRED 7247304 KRT18P58 keratin 18 pseudogene 58 644030 ABBA01028658;AC111177;AMYH01003366;NG_029277 pseudo 48885 INFERRED 7247305 KRT18P59 keratin 18 pseudogene 59 399965 ABBA01031248;AMYH01004104;AP001007;NG_029288 pseudo 48886 INFERRED 4109154 KRT18P52 keratin 18 pseudogene 52 2 2 31890480 31891303 - 32047663 32048505 - 100418769 ABBA01074858;AL121652;AMYH01010222;NG_021498 2151332 SHGC-74553 pseudo 37888 INFERRED 7247294 KRT18P60 keratin 18 pseudogene 60 100418829 ABBA01026587;AC079948;AMYH01004551;NG_024029 pseudo 48887 INFERRED 1354362 KRT18P6 keratin 18 pseudogene 6 14 14 14 q13.2 15844844 15846212 - 35050778 35054119 - 35980973 35982341 - 122592 ABBA01061507;AL160231;AMYH01005666;NG_007005 pseudo 20280 INFERRED 4890232 KRT18P54 keratin 18 pseudogene 54 4 4 133627233 133627975 - 136292335 136293077 - 100418792 ABBA01044891;AC108867;AMYH01014548;NG_025165 pseudo 39425 INFERRED 7247297 KRT18P61 keratin 18 pseudogene 61 100418865 ABBA01035396;AC079005;AMYH01008531;NG_026259 pseudo 48888 INFERRED 7247306 KRT18P65 keratin 18 pseudogene 65 442249 ABBA01026077;AL365214;AMYH01016597;NG_022320 pseudo 48892 INFERRED 7247302 KRT18P62 keratin 18 pseudogene 62 100287635 ABBA01005421;AC000094;AMYH01012477;NG_022875 pseudo 48889 INFERRED 7247295 KRT18P63 keratin 18 pseudogene 63 100288868 ABBA01032617;AC079399;AMYH01014035;NG_015822;NG_022049 pseudo 48890 INFERRED 7247307 KRT18P66 keratin 18 pseudogene 66 442405 ABBA01065097;AL590726;AMYH01019315;NG_021643 pseudo 48893 INFERRED 7247308 KRT18P67 keratin 18 pseudogene 67 100631239 ABBA01043717;AL359512;AMYH01021694;NG_029269 pseudo 48894 INFERRED 7247299 KRT18P68 keratin 18 pseudogene 68 139060 ABBA01052155;AL031585;AMYH01022247;NG_029275 pseudo 48895 INFERRED 1350297 KRT18P7 keratin 18 pseudogene 7 14 q24.2 71061219 71062609 + 100418877;338019 ABBA01030812;AL357153;AMYH01005831;NG_027387 pseudo 20283 INFERRED 1346931 KRT18P8 keratin 18 pseudogene 8 18 18 18 p11.22 9562205 9562561 - 9668239 9668595 - 9678239 9678595 - 125242 ABBA01049954;AMYH01008806;AP000902;NG_006995 pseudo 31093 INFERRED 1343332 KRT18P9 keratin 18 pseudogene 9 6 6 6 p21.31 35711910 35713319 + 34265532 34266836 + 34157509 34158918 + 442205 ABBA01038172;AL354740;AMYH01016252;NG_006996 bA513I15.2 pseudo 17767 INFERRED 1605772 KRT19P1 keratin 19 pseudogene 1 6 6 6 q13 72688217 72689590 + 72351145 72352332 + 72294363 72295736 + 441160 ABBA01040282;AL354933;AMYH01016417;NG_009680 pseudo 33422 INFERRED 1605853 KRT19P2 keratin 19 pseudogene 2 12 12 12 q22 94899423 94900057 + 93752331 93752965 + 95228230 95228804 + 160313 A0A4R5 AB041269;AB041270;ABBA01053356;AC117494;AMYH01004665;NR_036685;U85961 BAA94609;BAA94610 Hs.527883 KRT19P5 pseudo ENSG00000216306 33423 VALIDATED 1606625 KRT19P3 keratin 19 pseudogene 3 4 4 4 q25 108093952 108094785 - 111019675 111020508 - 110800226 110801059 - 442114 ABBA01063785;AC005509;AMYH01014458;NG_009651 pseudo 33424 INFERRED 7240979 KRT19P4 keratin 19 pseudogene 4 100128041 ABBA01019557;AC016395;AMYH01002800;NG_022181 pseudo 45073 INFERRED 1351883 KRT18P11 keratin 18 pseudogene 11 X X X q21.31 92218720 92220118 + 91601166 91602776 + 91714610 91716008 + 12477932 3876 ABBA01069922;AL121869;AMYH01022686;NG_005219;NG_016251 2146914;2188181 DXYS12;G66253 KRT18L1 pseudo 6431 INFERRED 1342839 KRT22 keratin 22 3154 6437 1353171 KRT17 keratin 17 This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008] 17 17 q21.2 37029220 37034335 - 39775692 39780882 - 1600184;1580863;6480464;7240710 7539673 16189514;1281771;18029348;19366057;18547302;17786476;17719747;17388661;16964243;16831889;16638858;15795121;15489334;15342556;15102078;14761598;14702039;12577067;12477932;12466114;12429849;11886499;11874497;11591653;11348474;10571744;10341211;9786956;9767294;9008238;7577575;7529318;7523421;1690428;1372562;9630597;22076435;19882246;18936942;19102940;19107515;19470054;19558792;19615732;19701759;20936779;21287500;21443102;17192395;21356351;22863883;22795618;20618440;22235123;21796151;21987572;22006917;22178446;21139048;21693764;21906983;22336949;21565611;21890473;21963094;22695933;20301457;22808266;22939629;21145461;22466643;22639854;23430585;23455924;19380743;22264670;23278621 3872 K7ELP7;K7EPJ9;K7ESE1;Q14666;Q8N1P6 ABBA01031808;AC130686;AK095342;AK304373;AMYH01008387;BC000159;BC011901;BC056421;BC072018;BC072019;BP226061;BX647923;CH471152;EF608068;EF608069;EF608071;NG_008625;NG_009090;NM_000422;S78515;X05803;X62571;Z19574 AAB34565;AAH00159;AAH11901;AAH56421;AAH72018;AAH72019;ABM82027;ABM85209;ABQ96595;ABQ96596;ABQ96598;BAC04534;BAG65211;CAA29248;CAA44451;CAA79626;EAW60750;EAW60751;EAW60752;EAW60753;NP_000413;Q04695 Hs.2785 2190609 KRT17 K17;PC;PC2;PCHC1 39.1;CK-17;OTTHUMP00000164770;cytokeratin-17;keratin 17 epitope S1;keratin 17 epitope S2;keratin 17 epitope S4;keratin, type I cytoskeletal 17;keratin-17 APPROVED protein-coding ENSG00000128422 6427 01019 148069;167210;184500 REVIEWED 1602018 KRT223P keratin 223 pseudogene 17 17 17 q21.2 35535346 35539738 - 36127318 36131710 - 38873792 38878184 - 16831889 643115 ABBA01031822;AC090283;AMYH01008384;NG_009669 pseudo 32968 INFERRED 735767 KRT18 keratin 18 KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q13 51628922 51632952 + 53342655 53346685 + 1624318;1580863;6480464;6907045;7240710 9011570 11923318;11917136;11788583;11581269;11356849;11278913;11162351;10891503;10852826;10809736;10747083;10625605;10444072;10022517;9786957;9630597;9560222;9524113;9409741;9367879;9353322;9298992;9150948;8522590;8125298;7541767;7538124;7536183;7529764;7523419;2469635;2454862;2454392;2434381;2422083;1705144;1699878;1693358;1374067;12707304;276901;10954706;11684708;15529338;2434380;18000879;16424149;19419951;19407366;19378390;19302716;19087356;19032382;18941637;18712172;18705345;18577580;18460214;18432282;18349119;18038249;17954264;17891046;17617404;17545523;17542994;17353931;17034788;16892178;16831889;16189514;16143128;16046547;15987600;15952740;15838910;15831101;15822942;15731014;15731013;15489334;15368451;15339273;15316390;15314064;15194421;15102669;14648556;14556659;12724528;12717381;12577067;12477932;12473120;12429849;12388748;12235123;12191991;11955647;21682752;22412904;20374042;20634891;20659422;21195700;14968112;15493875;16836912;18029348;19246484;19249390;19357195;19447876;19529960;19585610;19615732;19639183;19727975;19755983;19770641;19891019;19927353;20035625;20109457;20334631;20538000;20398190;20936779;19615282;20372788;20729549;10791969;21119362;20362077;21357724;19575986;22890829;22939629;22863883;22853896;23327593;21420381;21460362;21548936;20618440;21705376;21145805;20309963;21062750;21139048;21877197;21890473;21906983;21987572;22178446;22191568;17361185;17685470;19282868;22699783;22967118;23164509;23326448;16212417;19738201;19805454;21565611;21963094;21988832;22304920;22623428;22677743;23000965;23154549;23438482;23398456;23449973;23045527;23341946 3875 F8VZY9;P05783 ABBA01008301;AC107016;AF179904;AK129587;AK223093;AK308506;AK313988;AMYH01004475;AY762101;BC000180;BC000698;BC004253;BC008636;BC009754;BC020982;BC072017;BG753529;BT019412;CD106591;CH471054;HC921479;HD063881;L32537;NG_008351;NM_000224;NM_199187;X12876;X12881;X12883 AAA59461;AAA73889;AAH00180;AAH00698;AAH04253;AAH08636;AAH09754;AAH20982;AAH72017;AAV38219;AAX07828;ABM84641;ABM92172;BAD96813;BAG36700;CAA31369;CAA31375;CAA31377;CBU30436;CBU83085;EAW96655;EAW96656;NP_000215;NP_954657;P05783 Hs.406013 1732351;2131648;5021121;5023513;5107221;5107229;5123560 D12S764;G66074;G66248;PMC17321P1;RH71455;SHGC-11808;STS-N95819 CYK18;K18 CK-18;OTTHUMP00000242377;OTTHUMP00000242378;cell proliferation-inducing gene 46 protein;cell proliferation-inducing protein 46;cytokeratin 18;cytokeratin-18;keratin, type I cytoskeletal 18;keratin-18 APPROVED protein-coding ENSG00000111057 6430 01020 148070;215600 REVIEWED 1605243 KRT18P55 keratin 18 pseudogene 55 17 17 17 q11.2 23464746 23496144 - 23627735 23658144 - 26603012 26634408 - 6480464 14702039;12477932;20379614;16751776 284085 Q8N7Q0 ABBA01015060;ABBA01015061;ABBA01015062;AC061975;AK097823;AMYH01008277;BC112026;BC112028;CH471159;DQ597097;NR_028334 AAI12027;AAI12029;BAC05178;EAW51066 Hs.371796 5107221 G66074 FLJ40504;MGC138231;MGC138233 APPROVED pseudo ENSG00000265480 26874 08284 PROVISIONAL 1606170 KRT222 keratin 222 17 17 17 q21.2 35473458 35483002 - 36065398 36074942 - 38811872 38821416 - 6480464 16831889;15085952;14702039;12477932 125113 J3QQR9;Q8N1A0 ABBA01031823;AC073508;AK308598;AMYH01008384;BC032815;BK004052;BX538083;CH471152;CV570846;DB465511;DB543411;NM_152349 AAH32815;ACE86603;ACE86787;ACE87284;ACE87473;CAD98007;DAA04486;EAW60672;EAW60673;NP_689562;Q8N1A0 Hs.6920 1851751;2133706;2161280;2167612 A004H08;D17S1519E;D17S2038;NIB470 KA21;KRT222P;MGC45562 OTTHUMP00000164530;OTTHUMP00000164531;keratin 222 pseudogene;keratin-222 pseudogene;keratin-like protein KRT222;truncated type I keratin KA21 protein-coding 28695 11354 VALIDATED 1353851 KRT25 keratin 25 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35565821 35573131 - 36157799 36165091 - 38904273 38911584 - 1580863;6480464 16831889;15617563;15085952;20379614;22178446;21139048 147183 Q6ZPD6;Q7Z3Z0 ABBA01031822;AC090283;AJ564204;AK129503;AMYH01008384;CH471152;NG_012414;NM_181534 AAI40409;AAI46489;BAC85169;CAD91904;EAW60676;NP_853512;Q7Z3Z0 Hs.55412 1729231 G62214 KRT25A CK-25;K25;K25A;OTTHUMP00000164528;OTTHUMP00000164529;cytokeratin-25;keratin 25A;keratin, type I cytoskeletal 25;keratin-25;keratin-25A;type I inner root sheath specific keratin 25 irs1;type I inner root sheath-specific keratin-K25irs1 APPROVED protein-coding ENSG00000204897 30839 17242 REVIEWED 1345701 KRT27 keratin 27 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35594607 35600333 - 36186586 36192312 - 38933060 38938786 - 1580863;6480464 16831889;15629149;15617563;11591653;10329736 342574 Q7Z3Y8 ABBA01031821;AC090283;AF086481;AJ564206;AMYH01008384;CH471152;NG_012418;NM_181537 AAI66634;CAD91906;EAW60678;NP_853515;Q7Z3Y8 Hs.59363 KRT25C CK-27;K25C;K27;OTTHUMP00000164526;cytokeratin-27;keratin 25C;keratin, type I cytoskeletal 27;keratin-25C;keratin-27;type I inner root sheath specific keratin 25 irs3;type I inner root sheath-specific keratin-K25irs3 APPROVED protein-coding ENSG00000171446 30841 17244 REVIEWED 1319917 KRT28 keratin 28 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35609995 35617758 - 36201974 36209737 - 38948448 38956211 - 1580863;6480464 16831889;15617563;21800051;22178446 162605 Q7Z3Y7 ABBA01031821;AC090283;AJ564207;AK129827;AMYH01008384;CH471152;NG_012419;NM_181535 AAI46369;AAI48795;BAC85240;CAD91907;EAW60679;NP_853513;Q7Z3Y7 Hs.59736 1751087 SHGC-105006 KRT25D CK-28;K25D;K28;OTTHUMP00000164517;cytokeratin-28;keratin 25D;keratin, type I cytoskeletal 28;keratin-25D;keratin-28;type I inner root sheath specific keratin 25 irs4;type I inner root sheath-specific keratin-K25irs4 APPROVED protein-coding ENSG00000173908 30842 17245 REVIEWED 1349415 KRT24 keratin 24 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009] 17 17 17 q21.2 35515802 35521547 - 36107769 36113528 - 38854243 38860002 - 6480464 17317818;16831889;12477932;12230514;21145461;18029348;19380743 192666 Q2M2I5 ABBA01031822;AC090283;AK000268;AMYH01008384;BC111964;BC111968;CH471152;NG_012417;NM_019016 AAI11969;BAA91044;EAW60675;NP_061889;Q2M2I5 Hs.87383 1683104;2217546 KRT24_2966;RH91917 FLJ20261;K24;KA24;MGC138169;MGC138173 CK-24;OTTHUMP00000164527;cytokeratin-24;keratin, type I cytoskeletal 24;keratin-24;type I keratin-24 APPROVED protein-coding ENSG00000167916 18527 09668 607742 REVIEWED 1342754 KRT2 keratin 2 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 q13.13 51324609 51332226 - 53038342 53045959 - 1600192;1580863;6480464;7240710 7524919 10564334;10233323;10233306;10084318;9833038;9804344;9204966;9036938;8999895;8077693;7521371;17373842;1380918;12598329;15737202;18029348;17408392;16831889;15949009;15489334;12477932;11531804;11167982;10688369;10620137;21145461;15527767;23084401;20946988;22939629;21151833;19738201;20972266;21565611;21890473;21963094;21987572;21906983;22178446;21907836;17361185;19380743;21853274 3849 P35908 ABBA01008293;AC055715;AC055716;AF019084;AL598277;AMYH01004474;BC096294;BC099643;BC099644;CH471054;M99061;NG_008296;NM_000423 AAB81946;AAC83410;AAH96294;AAH99643;AAH99644;EAW96641;NP_000414;P35908 Hs.707 1732337;1796238;2168464;5117114 D12S1896;D12S758;GDB:437550;KRT2A_890 CK-2e;K2e;KRT2A;KRT2E;KRTE;MGC116967;MGC116968 OTTHUMP00000241990;cytokeratin-2e;epidermal ichthyosis bullosa of Siemens;epithelial keratin-2e;keratin, type II cytoskeletal 2 epidermal;keratin-2 epidermis;keratin-2e;type-II keratin Kb2 APPROVED protein-coding ENSG00000172867 6439 02560 146800;600194 VALIDATED 1347381 KRT20 keratin 20 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 q21.2 36285719 36295005 - 39032141 39041495 - 1580863;2317676;6480464 10931219 16362976;21574103;21677534;16608857;8359595;12857878;10973561;19188603;19119477;19098678;19074466;18813128;18804101;18705345;18587323;18387990;18265645;18246436;18092953;18072261;18069772;17593078;17525485;17378731;17240035;16831889;16722930;16473461;22348416;16286979;16189514;16083285;15871722;15489334;15371952;14631371;12954496;12894563;12636102;12515621;12477932;11962749;11857318;11844829;11642721;11279113;7689500;1696264;20574624;19145500;19287335;19645077;19664394;19724850;19893584;19914229;22268990;22361037;18029348;16344560;20936779;21106111;21282015;22237712;22895272;21775107;22073364;22178446;23322277;21938557;22119824;20395351;22414974;22677992;22752373;23150200 54474 P35900 ABBA01031821;AC004231;AK312744;AMYH01008385;BC031559;CH471152;DA426874;DB242980;NG_012286;NM_019010;X73501;X73502 AAH31559;ABM81709;ABM87753;BAG35614;CAA51913;CAA51914;EAW60686;NP_061883;P35900 Hs.84905 1851831;2158567 D17S1996;RH18130 CD20;CK-20;CK20;K20;KRT21;MGC35423 OTTHUMP00000164518;cytokeratin 20;cytokeratin-20;keratin, type I cytoskeletal 20;keratin-20;protein IT APPROVED protein-coding ENSG00000171431 20412 12193 608218 REVIEWED 733914 KRT19 keratin 19 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 q21.2 36933395 36938167 - 39679869 39684641 - 1580863;6480464 16000376;2448790;10037815;19157505;19032382;20920982;18941637;18833815;18705345;18602664;18571761;18559605;18451221;18409152;18329483;18308654;18095993;18080980;18059224;17955299;17851895;17728499;17697728;17652531;17558891;17509943;17492378;17450257;17071045;16965897;16892178;16879391;16831889;16804977;16736556;16681689;16627685;16344560;16189514;16083285;15952740;15870932;15825149;15737616;15716612;15489334;15342556;14761598;14593079;14556657;12820323;12697249;12477932;11682035;10859317;10809736;10623642;10444072;10212274;9505886;9284906;8661035;7534649;2469734;2468493;2458477;2447559;2428612;1286667;20723431;18394347;18577250;18646695;19265690;19383302;19549321;19574886;19585610;19615732;19623181;19776502;19849844;19863186;19926583;20050020;20146580;20350214;21070384;19087608;20803149;20398190;20538416;20204403;16324274;20198455;20586026;20586028;20936779;21159246;20854102;22989467;21270756;21190722;19166031;21262401;19185580;21319197;23084401;21104440;22555942;22318606;21804393;22041857;21151833;21705376;21738394;21800051;21062750;22045674;22178446;21427448;21397974;21704007;21938557;21906983;22253524;22648550;21976532;22088515;21663668;22535608;22997967;19738201;19805454;21987572;22513207;22623428;23269585;23455924;22999061;23398456;19380743 3880 C9JM50;K7EMS3;Q9P1Y4 AB041267;AB041268;ABBA01031810;AC019349;AF202321;AK313261;AMYH01008387;BC002539;BC007628;BC010409;BC067744;BC084574;BG490639;BG750971;BP328445;CH471152;DA068330;HC921481;HD063883;J03607;NG_012285;NM_002276;Y00503 AAA36044;AAF27048;AAH02539;AAH07628;AAH10409;AAH67744;AAH84574;ABM83105;ABM86299;BAA94607;BAA94608;BAG36071;CAA68556;CBU30437;CBU83086;EAW60743;NP_002267;P08727 Hs.654568 1684528;1793506 PMC22705P1;RH71340 CK19;K19;K1CS;MGC15366 40-kDa keratin intermediate filament;CK-19;OTTHUMP00000164620;cytokeratin 19;cytokeratin-19;keratin, type I cytoskeletal 19;keratin, type I, 40-kd;keratin-19 APPROVED protein-coding ENSG00000171345 6436 01007 148020 REVIEWED 1313247 KRT32 keratin 32 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36268990 36276862 - 36869291 36877164 - 39615765 39623638 - 1580863;6480464 17353931;7556444;16831889;12543931;10391933;8823373;7686952;2456239;19380743 3882 Q14532 ABBA01031810;AC019349;AI190798;AMYH01008387;CH471152;NG_012424;NM_002278;X81419;X90761 AAI46287;AAI48741;CAA57179;CAA62284;EAW60735;NP_002269;Q14532 Hs.41752 2185182;2219876 KRTHA2__6358;STS-X81419 HA2;HKA2;KRTHA2;hHa2 K32;OTTHUMP00000164628;hair keratin, type I Ha2;hard keratin, type I, 2;keratin, hair, acidic, 2;keratin, type I cuticular Ha2;keratin-32;type I cuticular hair keratin APPROVED protein-coding ENSG00000108759 6449 04134 602760 REVIEWED 1318841 KRT23 keratin 23 (histone deacetylase inducible) The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35740521 35755408 - 36332478 36347362 - 39078952 39093836 - 1580863;6480464 19383294;18676680;16831889;15081423;14702039;12477932;12015898;11683385;11135429;8125298;20936779;19170196;19625176;19692168;19893584;21492476;21139048 25984 I3L3Q6;J3QR55;K7EPI0;Q8TC04;Q9C075;Q9UFN7 ABBA01031820;AC004231;AF102848;AK002047;AK225866;AK289449;AK302109;AK310880;AK314604;AL117538;AMYH01008385;BC028356;CH471152;NG_012287;NM_015515 AAH28356;AAK00050;ABM82566;ABM85755;BAA92054;BAF82138;BAG37174;BAH13628;CAB55984;EAW60687;EAW60688;EAW60689;NP_056330;Q9C075 Hs.9029 1657505;1657634;1684666;2173082;2217544 G27718;KRT23_2937;RH76378;STS-W38159;WI-18066 CK23;DKFZp434G032;HAIK1;K23;MGC26158 CK-23;OTTHUMP00000164533;cytokeratin 23;cytokeratin-23;histone deacetylase inducible keratin 23;hyperacetylation-inducible type I keratin;keratin, type I cytoskeletal 23;keratin-23;type I intermediate filament cytokeratin APPROVED protein-coding ENSG00000108244 6438 05863 606194 REVIEWED 1353879 KRT3 keratin 3 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52829698 52836121 - 51469736 51476159 - 53183469 53189892 - 1580863;7240710 9171831;18806880;16831889;16227835;15737194;8889548;7510223;6186379;2439698;21145461;22939629;20972266;21139048;21906983;22178446;19380743 3850 J3QST3;P12035 ABBA01008295;AC107016;AJ628418;AK314987;AMYH01004474;BM672628;CH471054;CV571376;NG_008350;NM_057088;X05418;X05419;X05420;X05421 AAI56126;AAI72453;CAA28991;CAA28992;CAA28993;CAA28994;CAA28995;CAA28996;CAF31522;EAW96645;EAW96646;NP_476429;P12035 Hs.680652 1651994;2152957 RH18078;RH18079 CK3;FLJ95909;K3 65 kDa cytokeratin;CK-3;OTTHUMP00000242121;cytokeratin 3;cytokeratin-3;keratin, type II cytoskeletal 3;type-II keratin Kb3 APPROVED protein-coding ENSG00000186442 6440 01013 122100;148043 REVIEWED 1343053 KRT26 keratin 26 The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35584037 35589958 - 36176016 36181937 - 38922490 38928411 - 1580863;6480464 16874310;16831889;15617563;12477932;21800051 353288 Q7Z3Y9 ABBA01031821;AC090283;AJ564205;AMYH01008384;BC132951;BC136896;CH471152;NG_012487;NM_181539 AAI32952;AAI36897;CAD91905;EAW60677;NP_853517;Q7Z3Y9 Hs.592133 CK26;K25IRS2;K26;KRT25B CK-26;K25B;OTTHUMP00000164525;cytokeratin-26;keratin, type I cytoskeletal 26;keratin-25B;keratin-26;type I inner root sheath specific keratin 25 irs2;type I inner root sheath-specific keratin-K25irs2 APPROVED protein-coding ENSG00000186393 30840 17243 REVIEWED 1354440 KRT35 keratin 35 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36286163 36290612 - 36886467 36890918 - 39632941 39637392 - 1580863;6480464 8823373;18021261;16831889;15140206;10391933;9756910;7686952;17353931;19615732;21139048;19380743 3886 C4AM86;Q92764 ABBA01031810;AC019349;AMYH01008387;CH471152;NG_012292;NM_002280;X90762;X90763;Y16791 AAI40366;AAI46509;CAA62285;CAA62286;CAA76387;EAW60736;EAW60737;NP_002271;Q92764 Hs.73082 2156139;2219880 KRTHA5__6360;STS-X90762 HA5;Ha-5;KRTHA5;hHa5 HHa5 hair keratin type I intermediate filament;K35;OTTHUMP00000164623;hair keratin, type I Ha5;hard keratin, type I, 5;keratin, hair, acidic, 5;keratin, type I cuticular Ha5;keratin-35 APPROVED protein-coding ENSG00000197079 6453 04138 602764 REVIEWED 1346996 KRT37 keratin 37 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36230021 36234322 - 36830335 36834636 - 39576809 39580822 - 1580863;6480464 9756910;16831889;15617563;10391933;7686952;19380743 8688 O76014;Q6ZW03 ABBA01031810;AC003958;AJ786655;AMYH01008387;CH471152;NG_012294;NM_003770;Y16793 AAI40320;CAA76389;CAH10350;EAW60731;EAW60732;EAW60733;NP_003761;O76014 Hs.673852 2219882 KRTHA7__6361 HA7;K37;KRTHA7;hHa7 K37;OTTHUMP00000164972;hair keratin, type I Ha7;keratin, hair, acidic, 7;keratin, type I cuticular Ha7;keratin-37 APPROVED protein-coding ENSG00000108417 6455 05175 604541 REVIEWED 1315199 KRT31 keratin 31 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36203187 36207055 - 36803502 36807370 - 39549976 39553844 - 1580863;6480464 17353931;9405442;7578244;16831889;16713569;15140206;12477932;10391933;9756910;9457912;7686952;7528047;2465162;21145461;19615732;19738201 3881 Q15323;Q16275 ABBA01031811;AC003958;AC207056;AK313419;AMYH01008387;BC114468;CH471152;NG_012288;NM_002277;S75797;X86570;Y16787 AAB32812;AAI14469;CAA60378;CAA76383;EAW60730;NP_002268;Q15323 Hs.41696 2159390 STS-X86570 HA1;Ha-1;KRTHA1;MGC138630;hHa1 K31;OTTHUMP00000164621;hair keratin, type I Ha1;hard keratin, type I, 1;keratin, hair, acidic,1;keratin, type I cuticular Ha1;keratin-31 APPROVED protein-coding ENSG00000094796 6448 03047 601077 REVIEWED 1314759 KRT33A keratin 33A This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012] 17 17 17 q21.2 36155587 36160272 - 36755897 36760582 - 39502344 39507064 - 1580863;6480464 17353931;16831889;15617563;12477932;10391933;9756910;7686952;7565656 3883 O76009 ABBA01031811;AC003958;AJ633621;AK314088;AMYH01008387;BC069135;CH471152;NG_012289;NM_004138;X82650;Y16788 AAH69135;BAG36784;CAA76384;CAG17613;EAW60727;NP_004129;O76009 Hs.512579 1700716 RH103983 HA3I;Ha-3I;K33A;KRTHA3A;Krt1-3;hHa3-I K33A;OTTHUMP00000164630;hair keratin, type I Ha3-I;hard keratin, type I,3I;keratin, hair, acidic, 3A;keratin, type I cuticular Ha3-I;keratin-33A APPROVED protein-coding ENSG00000006059 6450 04135 602761 REVIEWED 1350893 KRT34 keratin 34 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36187136 36191851 - 36787447 36792162 - 39533921 39538636 - 1580863;6480464 17353931;9756910;16831889;16286979;12477932;10391933;7686952;2431943;19615732;19380743;22790218 3885 O76011 ABBA01031811;AC003958;AC207056;AMYH01008387;BC033252;BC041070;CH471152;NG_012291;NM_021013;Y16790 AAH33252;AAH41070;CAA76386;EAW60729;NP_066293;O76011 Hs.296942 1688893;2182611;2219878 KRTHA4__6359;RH99021;SHGC-57298 HA4;Ha-4;KRTHA4;hHa4 K34;OTTHUMP00000164635;hair keratin, type I Ha4;hard keratin, type I, 4;keratin, hair, acidic, 4;keratin, type I cuticular Ha4;keratin-34 APPROVED protein-coding ENSG00000131737 6452 04137 602763 REVIEWED 1348786 KRT41P keratin 41 pseudogene 17 17 17 q21.2 36215503 36222163 - 36815817 36822477 - 39562291 39568951 - 16831889;9756910 8686 ABBA01031810;AC003958;AMYH01008387;NG_029330;Y16795 KRTHAP1 keratin, hair, acidic, pseudogene 1 pseudo 6457 INFERRED 1604961 KRT42P keratin 42 pseudogene 17 17 17 q21.2 36435728 36449308 - 37036108 37049970 - 39782579 39796451 - 6480464 16831889;14702039 284116 Q6ZU61 ABBA01006460;ABBA01031807;ABBA01031808;AC130686;AK095281;AK125965;AMYH01008387;NG_009090;NR_033415 BAC86365 Hs.725790 pseudo ENSG00000214514 27581 VALIDATED 7247006 KRT43P keratin 43, pseudogene 100418861 ABBA01031810;AC019349;AMYH01008387;NG_026184 pseudo 48870 INFERRED 1314039 KRT36 keratin 36 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36295609 36299337 - 36895914 36899642 - 39642388 39646116 - 1580863;6480464 17353931;9756910;17081983;16831889;12477932;10391933;21145461;7979242;7686952;19615732;21832049;19380743 8689 O76013 ABBA01031810;AC019349;AMYH01008387;BC043581;CH471152;NG_012293;NM_003771;Y16792 AAH43581;CAA76388;EAW60738;EAW60739;NP_003762;O76013 Hs.248189 HA6;KRTHA6;hHa6 K36;OTTHUMP00000164629;OTTHUMP00000166116;hair keratin, type I Ha6;keratin, hair, acidic, 6;keratin, type I cuticular Ha6;keratin-36 APPROVED protein-coding ENSG00000126337 6454 05174 604540 REVIEWED 1604916 KRT39 keratin 39 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35776241 35784715 - 36368195 36376670 - 39114669 39123144 - 6480464 17301834;16831889;15617563;15085952;12477932 390792 J3QRE9;Q6A163 ABBA01031819;AC004231;AC007455;AC037482;AJ786657;AMYH01008386;BC157887;BC171907;BK004054;CH471152;NG_012415;NM_213656 AAI57888;AAI60073;CAH10352;DAA04487;EAW60690;NP_998821;Q6A163 Hs.28467 CK-39;K39;KA35 OTTHUMP00000164622;cytokeratin-39;keratin, type I cytoskeletal 39;keratin-39;type I hair keratin KA35 APPROVED protein-coding ENSG00000196859 32971 13750 REVIEWED 1350539 KRT38 keratin 38 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36245857 36250831 - 36846147 36851122 - 39592621 39597596 - 1580863;6480464 9756910;16831889;15617563;15248378;10391933;7686952;12477932;19380743 8687 O76015 ABBA01031810;AC019349;AJ786656;AMYH01008387;BC131715;CH471152;NG_012295;NM_006771;Y16794 AAI31716;CAA76390;CAH10351;EAW60734;NP_006762;O76015 Hs.248188 2219884 KRTHA8__6362 HA8;KRTHA8;hHa8 K38;OTTHUMP00000164638;hair keratin, type I Ha8;keratin, hair, acidic, 8;keratin, type I cuticular Ha8;keratin-38 APPROVED protein-coding ENSG00000171360 6456 05176 604542 REVIEWED 1347673 KRT6D keratin 6D q12-q13 1580863 7543104;16831889 140466 L42610 AAB60696 CK6D;K6D protein-coding 20405 1346723 KRT33B keratin 33B This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012] 17 17 17 q21.2 36172962 36179263 - 36773272 36779573 - 39519746 39526052 - 1580863;6480464 17353931;16831889;15489334;14718574;12477932;10391933;9756910;21145461;7686952;7565656;19615732;11359384;15617563;21139048;19380743 3884 Q14525 ABBA01031811;AC003958;AMYH01008387;BC009971;CH471152;NG_012290;NM_002279;X82634;Y16789 AAH09971;ABM84378;ABM87285;CAA57956;CAA76385;EAW60728;NP_002270;Q14525 Hs.32950 1772532 SGC35567 HA3II;Ha-3II;K33B;KRTHA3A;KRTHA3B;hHa3-II K33B;OTTHUMP00000164627;hair keratin, type I Ha3-II;hard keratin, type I, 3II;keratin, hair, acidic, 3B;keratin, type I cuticular Ha3-II;keratin-33B;type I hair keratin 3B APPROVED protein-coding ENSG00000131738 6451 04136 602762 REVIEWED 1606169 KRT40 keratin 40 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009] 17 17 17 q21.2 35795581 35804999 - 36387494 36396116 - 39133968 39143387 - 17301834;16831889;15617563;15085952;14702039;12477932 125115 G3V1C2;Q6A162 ABBA01031819;AC007455;AC037482;AJ786658;AK093919;AMYH01008386;BC130396;BC144250;BC150174;BC150191;BK004055;CH471152;NG_012412;NM_182497 AAI30397;AAI44251;AAI50175;AAI50192;ADR83001;BAC04250;CAH10353;DAA04488;EAW60691;EAW60692;NP_872303;Q6A162 Hs.534929 1661106;1761089;1857759;2107239;2220344;2220640 D17S1193;D17S1194;KA36__6499;SHGC-145068;UniSTS:480451;UniSTS:486954 CK-40;FLJ36600;K40;KA36 OTTHUMP00000164963;cytokeratin-40;keratin, type I cytoskeletal 40;keratin-40;type I hair keratin KA36 APPROVED protein-coding ENSG00000204889 26707 08304 REVIEWED 1351268 KRT6C keratin 6C Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009] 12 12 12 q13.13 52508540 52513809 - 51148567 51153836 - 52862300 52867569 - 1580863;6480464 16831889;16541075;12477932;11683385;9054461;7543104;21145461;19609311;20081885;21906983;19380743 286887 P48668 ABBA01008292;AC055736;AK299478;AK313239;AMYH01004472;AMYH01004473;AMYH01004474;BC110639;BC130583;BC130585;BK000962;CH471054;L42611;NG_012416;NM_173086 AAC41770;AAI10640;AAI30584;AAI30586;BAG36050;BAG61442;DAA01484;EAW96628;EAW96629;NP_775109;P48668 Hs.709234 K6E;KRT6E;MGC102925;MGC163455;MGC163457 CK-6C;CK-6E;K6C;OTTHUMP00000241633;cytokeratin-6C;cytokeratin-6E;keratin K6h;keratin, type II cytoskeletal 6C;keratin-6C;type-II keratin Kb12 APPROVED protein-coding ENSG00000170465 20406 17247 612315 REVIEWED 1342912 KRT4 keratin 4 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 q13.13 51486600 51494602 - 53200327 53207900 - 1600193;1580863;6480464;7240710 7493030 21145461;2452170;19468300;18992023;17709412;16831889;15489334;14702039;12828738;12477932;11132762;10652003;9727005;9452892;7684424;2466616;2433356;19515043;19468302;1689954;20562859;19615732;21498718;21139048;22178446;21371075;19380743 3851 B4DRS2;F5H8K9;F8VX05;F8VZR6;P19013 ABBA01008295;AC107016;AF066051;AK056254;AK098110;AK296582;AK299394;AK299400;AK299451;AK307941;AMYH01004474;AW082111;AY043326;BC003630;BC012867;BC032132;BC042174;CH471054;DR423040;NG_007380;NM_002272;X07695;X61028;X67683;X97566 AAC34807;AAH03630;AAH32132;AAH42174;AAL14196;ACE86926;ACE87613;BAG59202;BAG61379;BAG61384;BAG61423;CAA30534;CAA43362;CAA47914;EAW96647;NP_002263;P19013 Hs.654610;Hs.731814 1732333;1775230;2178741 D12S756;RH18084;RH18127 CK-4;CK4;CYK4;FLJ31692;K4 CK-4;OTTHUMP00000242122;cytokeratin 4;cytokeratin-4;keratin, type II cytoskeletal 4;type-II keratin Kb4 APPROVED protein-coding ENSG00000170477 6441 00478 123940;193900 REVIEWED 1349887 KRT6B keratin 6B The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52486679 52492154 - 51126702 51132177 - 52840435 52845910 - 1580863;6480464;7240710 9618173;16831889;16189514;15489334;12477932;7543104;2470667;2410904;1713141;1286667;1284199;21145461;19720911;23075894;21800051;15174051;20972266;21565611;21890473;21963094;21987572;23084401;21906983;22178446;20301457;19380743;22264670 3854 P04259 ABBA01008292;AC055736;AK296729;AMYH01004472;BC034535;BG679927;CH471054;HI519564;L00205;L42584;L42585;L42586;L42587;L42588;L42589;L42590;L42591;L42592;L42612;M11229;NG_008299;NM_005555 AAA59466;AAC41768;AAC41771;AAH34535;ABM82253;ABM85437;BAG59316;CBX54363;EAW96626;EAW96627;NP_005546;P04259 Hs.708950 1732345;1797808;1851105 D12S762;KRT6B_1646;RH17408 CK-6B;CK6B;K6B;KRTL1;PC2 CK-6B;OTTHUMP00000241630;cytokeratin 6B;cytokeratin-6B;keratin, epidermal, type II, K6B;keratin, type II cytoskeletal 6B;keratin-6B;keratin-like 1 (a type II keratin sequence);type-II keratin Kb10 APPROVED protein-coding ENSG00000185479 6444 01012 148042;167210 REVIEWED 1605882 KRT74 keratin 74 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52605846 52613853 - 51245870 51253876 - 52959603 52967609 - 7240710;6480464 19023099;17975119;16831889;12648212;11683385;14968112;20346438;20379614;21188418;21906983 121391 F8W1S1;Q7RTS7 ABBA01008293;AC055715;AF086480;AI092341;AJ508777;AMYH01004474;BK000977;CH471054;NG_012321;NM_175053 AAI60050;CAD48514;DAA00404;EAW96637;NP_778223;Q7RTS7 Hs.660125 1697036;1776018 RH101995;SHGC-57352 HTSS2;K6IRS4;KRT5C;KRT6IRS4 CK-74;K5C;K74;OTTHUMP00000241822;OTTHUMP00000241823;cytokeratin-74;keratin 5c;keratin 6 irs4;keratin, type II cytoskeletal 74;keratin-5c;keratin-74;type II inner root sheath-specific keratin-K6irs4;type-II keratin Kb37 APPROVED protein-coding ENSG00000170484 28929 10504 194300;608248;613981 REVIEWED 1346482 KRT6A keratin 6A The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 q13.13 51167225 51173448 - 52880958 52887181 - 1580863;6480464;7240710 16189514;7543104;7545493;18489596;17719747;17650314;16831889;16344560;15737194;15489334;12477932;11886499;7525601;6191871;1713141;21145461;20470930;15731013;15731017;19416275;19720911;19806570;20140871;2410904;19699613;20403371;23075894;22668561;21554383;21906983;22178446;15174051;19805454;20972266;21565611;21890473;21963094;21987572;22623428;22098151;20301457;23398456;19380743;22264670 3853 P02538 ABBA01008292;AC055736;AK290245;AK299386;AK299428;AK301686;AMYH01004474;BC008807;BC014152;BC069269;BC125058;BC139753;BG059253;BT006899;CH471054;DA451441;L42575;L42576;L42577;L42578;L42579;L42580;L42581;L42582;L42583;L42593;L42601;NG_008298;NM_005554;V01516 AAC41767;AAC41769;AAH08807;AAH14152;AAH69269;AAI25059;AAI39754;AAP35545;AAP36273;ABM84714;ABM92236;BAF82934;BAG61372;BAG61408;BAG63158;CAA24760;EAW96631;NP_005545;P02538 Hs.700779 1714495;1732343;1747991;2107259;2135585;2158202;2165809;2182788 D12S1938;D12S761;G64265;KRT6A_7810;RH119759;RH17580;RH17657;SHGC-35512 CK6A;CK6C;CK6D;K6A;K6C;K6D;KRT6C;KRT6D OTTHUMP00000241634;cytokeratin 6A;cytokeratin 6C;cytokeratin 6D;keratin, epidermal type II, K6A;keratin, type II cytoskeletal 6A;type-II keratin Kb6 APPROVED protein-coding ENSG00000205420 6443 01011;17246 148041;167200 REVIEWED 1343872 KRT5 keratin 5 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008] 12 12 q13.13 51194626 51200510 - 52908359 52914243 - 1600195;1600196;1580863;6480464;7240710 1372711;7507402 8636216;7688477;7686424;7684424;7537780;7534039;7525601;7506097;2476664;2456903;2455002;2447486;1720261;1718160;1713141;1378478;1284070;8757772;10727209;7520042;7679677;19651890;19605815;19578363;19461998;19366057;19278431;19267394;19023099;18833821;18662989;18499686;18261623;18064689;18035671;17975119;17855059;17650314;17549391;17388661;17229601;17039244;16882168;16831889;16786515;16465624;16152605;16098032;15731015;15731013;15647384;15618924;15489334;15347343;15324323;14723728;14702039;12925204;12802069;12707098;12655565;12648226;12477932;12466114;11973334;11591653;11407989;11407988;11167681;10903910;10852826;10782015;10730767;10494094;10383750;10234505;9989794;9804357;9786957;9740251;9406827;9129237;9036937;8999895;15140024;8807337;8799157;21164283;16757171;19102940;19156550;19220453;19430419;19529775;19616543;19675450;19691749;19720911;19797037;19847192;20060687;19882246;20936779;20151404;20030639;20128788;20877624;20222933;20055872;20923750;21144712;21375516;20199538;23084401;22832485;22939629;23075894;21490615;20665103;21062750;21900500;22178446;21365123;21427063;23011826;22553810;20189848;21906983;22161089;22277943;20301543;21145461;21569119;22437315;15174051;19738201;20085233;20972266;21080425;21565611;21890473;21963094;21987572;22639907;23327593;19380743;23184698 3852 F8VU69;F8VV57;F8W0C6;H0YI76;H0YIN9;P13647 ABBA01008292;AC055736;AF274874;AK093720;AK296823;AK303972;AK310827;AMYH01004474;AY373434;BC024292;BC042132;BC071906;CH471054;D50666;M19723;M21389;M28496;NG_008297;NM_000424;S56203 AAA36143;AAA36145;AAD14917;AAF97931;AAH24292;AAH42132;AAH71906;AAQ81588;ABM83772;ABM87091;BAA09320;BAG59394;BAG64893;EAW96632;EAW96633;EAW96634;EAW96635;NP_000415;P13647 Hs.433845 1732339;1779284;2129743;2137558;2137804 D12S2098;D12S759;RH77823;SHGC-153281;STS-D29027 CK5;DDD;DDD1;EBS2;K5;KRT5A 58 kda cytokeratin;CK-5;OTTHUMP00000241816;cytokeratin-5;epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types;keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types);keratin, type II cytoskeletal 5;type-II keratin Kb5 APPROVED protein-coding ENSG00000186081 6442 01010 131760;131800;131900;131960;148040;179850;609352 REVIEWED 1604251 KRT71 keratin 71 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52583937 52593175 - 51223960 51233170 - 52937693 52946931 - 6480464 16831889;14702039;12648212;12477932;11982755;21145461;22592156;23084401;21139048;21906983 112802 Q3SY84 ABBA01008293;AC055736;AJ308599;AJ308600;AJ308601;AK122795;AMYH01004474;BC103917;BC103918;CH471054;NG_012426;NM_033448 AAI03918;AAI03919;ACE87776;ACT64442;BAG53733;CAC43429;EAW96636;NP_258259;Q3SY84 Hs.660007 1682579 RH99054 K6IRS1;KRT6IRS;KRT6IRS1;MGC119390;MGC119391 CK-71;K71;OTTHUMP00000236990;cytokeratin-71;hK6irs;hK6irs1;keratin 6 irs;keratin, type II cytoskeletal 71;keratin-71;type II inner root sheath-specific keratin-K6irs1;type-II keratin Kb34 APPROVED protein-coding ENSG00000139648 28927 09745 608245 REVIEWED 1603409 KRT75 keratin 75 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008] 12 12 q13 51104121 51114377 - 52817854 52828110 - 6480464;7240710 9856802;19366057;18499686;16831889;15292489;15086549;11939812;10692104;21145461;8125298;19614992;22178446;21427063;21906983;19380743 9119 O95678 ABBA01008292;AC055736;AK225962;AK298960;AMYH01004472;CH471054;NG_008403;NM_004693;Y17282;Y19212 AAI60175;BAG61056;CAA76730;CAB76832;EAW96625;NP_004684;O95678 Hs.697046 1757797;2219842 K6HF__6497;SHGC-146541 K6HF;KB18;PFB CK-75;K75;OTTHUMP00000241629;cytokeratin type II;cytokeratin-75;hK6hf;keratin, type II cytoskeletal 75;keratin-6 hair follicle;keratin-75;type II keratin-18;type II keratin-K6hf;type-II keratin Kb18 APPROVED protein-coding ENSG00000170454 24431 11057 609025;612318 REVIEWED 1605236 KRT73 keratin 73 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.3 52647597 52658586 - 51287621 51298610 - 53001354 53012343 - 6480464 16831889;12648212;12477932;21800051;21139048;21906983;19380743 319101 H0YIC5;Q86Y46 ABBA01008293;AC055715;AJ508776;AMYH01004474;BC109212;CH471054;NG_012319;NM_175068 AAI09213;CAD48513;EAW96640;NP_778238;Q86Y46 Hs.55410 2150392 SHGC-57111 IRT6IRS3;K6IRS3;KRT6IRS3;MGC129635;MGC129636 CK-73;K73;OTTHUMP00000241988;OTTHUMP00000241989;cytokeratin-73;keratin 6 irs3;keratin, type II cytoskeletal 73;keratin-73;type II inner root sheath-specific keratin-K6irs3;type-II keratin Kb36 APPROVED protein-coding ENSG00000186049 28928 16304 608247 REVIEWED 1322014 KRT7 keratin 7 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 12 12 q13.13 50913221 50928976 + 52626954 52642709 + 1580863;2317439;2317307;2317308;6480464 8570173;19260470;18393293 21574103;8895530;8125298;2436934;2415537;1713141;11591653;11169732;12072504;10492017;2459129;19419944;19396034;19302533;19157505;19098678;19032382;18949396;18936968;18604734;18602664;18478571;18317225;18092953;18042078;17593078;17388661;17081983;16879391;16831889;16483709;15894926;15782174;15502805;15489654;15489334;15371952;14631371;14513050;12577067;12477932;12359226;11962749;11888936;11840567;9734130;9614373;22390404;15231748;17715023;18029348;19601945;19614771;20001343;20043065;20398190;20557372;20574624;20538416;21228364;20727680;21282015;22863883;22939629;21358552;21681009;20849852;21884201;21906983;21987572;22178446;22268990;22361037;22119824;22382985;22895272;22203179;21139048;21890473;21963094;22053931;22304920;22716237;22505724 3855 P08729 ABBA01031629;ABBA01031630;AC021066;AF509887;AF509891;AF509892;AJ238246;AK025881;AK128505;AK128848;AK129924;AK225498;AMYH01004471;BC002700;BC009521;BC042076;BC107082;BC107083;BE740515;BE744321;BU527162;CH471111;NG_012296;NM_005556;X03212;X13320;Z36852 AAH02700;AAH09521;AAI07083;AAI07084;AAN64031;AAN64035;ABM83922;ABM87243;BAG54741;CAA26956;CAA31695;CAB41416;EAW58240;EAW58241;NP_005547;P08729 Hs.411501;Hs.670221 1338710;1732349;1757139;1759391;2156818;2217548;5022200;5022578;7185372 D12S368;D12S763;D1S1423;KRT7_2779;L18426;SGC33015;SHGC-144573;SHGC-150981 CK7;K2C7;K7;MGC129731;MGC3625;SCL CK-7;OTTHUMP00000241595;OTTHUMP00000241596;cytokeratin 7;cytokeratin-7;keratin, 55K type II cytoskeletal;keratin, simple epithelial type I, K7;keratin, type II cytoskeletal 7;keratin-7;sarcolectin;type II mesothelial keratin K7;type-II keratin Kb7 APPROVED protein-coding ENSG00000135480 6445 01014 148059 REVIEWED 1605387 KRT76 keratin 76 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009] 12 12 12 q13.13 52808167 52817357 - 51448206 51457372 - 53161939 53171129 - 1282112;16831889;15737194;21145461;18029348;21906983;19380743 51350 Q01546 ABBA01008295;AC068988;AC139763;AJ564103;AK299390;AMYH01004474;CH471054;M99063;NG_012420;NM_015848 AAA35746;AAI67839;BAG61375;CAD91891;EAW96644;NP_056932;Q01546 Hs.654392 1774336;2121860 D12S1935;G15846 HUMCYT2A;KRT2B;KRT2P CK-2P;K2P;K76;OTTHUMP00000242120;cytokeratin 2;cytokeratin-2P;keratin 2p;keratin, type II cytoskeletal 2 oral;keratin-76;type-II keratin Kb9 APPROVED protein-coding ENSG00000185069 24430 17123 REVIEWED 1605869 KRT72 keratin 72 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52625614 52641566 - 51265640 51281559 - 52979373 52995322 - 6480464 17388661;16831889;14702039;12648212;12477932;11703281;9630597;22553810;21139048;21906983;20189848 140807 B4DXK4;H0YHD9;H0YIG3;Q14CN4 ABBA01008293;AC055715;AK093060;AK293645;AK302016;AMYH01004474;AY033495;AY033496;BC113686;BX089867;CH471054;HC007066;NG_012427;NM_001146225;NM_001146226;NM_080747 AAI13687;AAK55108;AAK55109;ADR83208;BAC04039;BAG57099;BAG63416;CBH19338;EAW96638;EAW96639;NP_001139697;NP_001139698;NP_542785;Q14CN4 Hs.662013 1732331;2219844 D12S766;K6IRS2__6498 K6IRS2;K6irs;KRT6;KRT6IRS2;MGC142246 CK-72;K72;OTTHUMP00000241984;OTTHUMP00000241985;cytokeratin-72;keratin 6, inner root sheath, 2;keratin protein K6irs;keratin, type II cytoskeletal 72;keratin-72;type II inner root sheath-specific keratin-K6irs2;type-II keratin Kb35 APPROVED protein-coding ENSG00000170486 28932 09746 608246 REVIEWED 1350237 KRT82 keratin 82 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008] 12 12 12 q13 52433892 52446333 - 51074002 51086443 - 52787735 52800176 - 1580863;6480464 17353931;10692104;16831889;15737194;2431943;19380743 3888 Q701L7;Q9NSB4 ABBA01008291;AC078865;AJ628419;AMYH01004472;CH471054;NG_012298;NM_033033;Y19207 AAI48498;AAI53100;CAB76827;CAF31523;EAW96624;NP_149022;Q9NSB4 Hs.134640 HB2;Hb-2;KRTHB2 K82;OTTHUMP00000241744;hard keratin, type II, 2;keratin, hair, basic, 2;keratin, type II cuticular Hb2;keratin-82;type II hair keratin Hb2;type-II keratin Kb22 APPROVED protein-coding ENSG00000161850 6459 03048 601078 REVIEWED 1606944 KRT78 keratin 78 This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 52879026 52889058 - 51519013 51529045 - 53232746 53242778 - 6480464 10692104;17353931;16831889;16344560;15737194;15085952;14702039;11792552;11683385;2433356;21145461;21800051;21139048;19380743 196374 F8VS93;H0YI54;Q8N1N4 ABBA01008295;AC107016;AI143912;AK096419;AK290901;AK298636;AMYH01004474;BK000646;BX647095;CH471054;DA667429;NG_012297;NM_173352 AAI41555;BAC04782;BAF83590;BAG60811;CAI46001;DAA00377;EAW96649;EAW96650;NP_775487;Q8N1N4 Hs.665267 K5B;Kb40 CK-78;K78;OTTHUMP00000242361;OTTHUMP00000242362;cytokeratin-78;keratin 5b;keratin, type II cytoskeletal 78;keratin-5b;keratin-78;type-II keratin Kb40 APPROVED protein-coding ENSG00000170423 28926 17171 611159 REVIEWED 1602275 KRT79 keratin 79 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52861510 52874357 - 51501498 51514344 - 53215231 53228077 - 6480464 15737194;12477932;11683385;19615732;22178446;21906983;23382074;19380743 338785 H0YID6;Q5XKE5 ABBA01008295;AC107016;AJ564105;AK130156;AMYH01004474;BC039148;BC063648;BK000976;CH471054;NG_012323;NM_175834 AAH39148;AAH63648;CAD91893;DAA00403;EAW96648;NP_787028;Q5XKE5 Hs.711471 FLJ26646;K6L;KRT6L CK-79;K79;OTTHUMP00000242359;cytokeratin-79;keratin 6-like;keratin 6L;keratin, type II cytoskeletal 79;keratin-6-like;keratin-6L;keratin-79;type-II keratin Kb38 APPROVED protein-coding ENSG00000185640 28930 11183 611160 REVIEWED 1352886 KRT77 keratin 77 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009] 12 12 12 q13.13 52729653 52743480 - 51369910 51383514 - 53083410 53097247 - 1580863;6480464 16831889;16541075;16117782;15737194;12477932;11683385;17353931;21145461;19615732;21139048;21906983;19380743 374454 F5GY66;F8VS61;Q0IIN1;Q7Z794 ABBA01008295;AC055716;AJ564104;AMYH01004474;BC033366;BC118598;BC122558;BK000975;CH471054;NG_012322;NM_175078 AAI18599;AAI22559;CAD91892;DAA00402;EAW96643;NP_778253;Q7Z794 Hs.334989 1699260;2142171 RH103212;STS-AA025411 K1B;KRT1B;MGC148087 CK-1B;K77;OTTHUMP00000241148;cytokeratin-1B;keratin, type II cytoskeletal 1b;keratin-77;type-II keratin Kb39 APPROVED protein-coding ENSG00000189182 20411 13934 611158 REVIEWED 1350889 KRT85 keratin 85 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008] 12 12 12 q13 52399944 52407463 - 51040057 51047576 - 52753790 52761309 - 1580863;6480464;7240710 21145461;17353931;9084137;18021261;16831889;16525032;10727209;10692104;10391933;8823373;19615732;19865094;20409997;19684603;20562859;19380743 3891 F5GYI5;P78386 ABBA01008291;AC078865;AK302303;AMYH01004472;CH471054;NG_008353;NM_002283;X99140;Y19210 AAI66627;BAH13669;CAA67577;CAB76830;EAW96622;NP_002274;P78386 Hs.182507 1677624;1748357;1846924;2108197 G64255;KRTHB5_8431;RH94339;STS-X99140 ECTD4;HB5;Hb-5;KRTHB5;hHb5 K85;OTTHUMP00000241741;OTTHUMP00000241742;hair keratin K2.12;hard keratin, type II, 5;keratin, hair, basic, 5;keratin, type II cuticular Hb5;keratin-85;type II hair keratin Hb5;type-II keratin Kb25 APPROVED protein-coding ENSG00000135443 6462 04139 602032;602767 REVIEWED 1347354 KRT8P1 keratin 8 pseudogene 1 14 14 14 q21.1 19060633 19062414 + 38265871 38272433 + 39196168 39197965 + 338017 ABBA01061540;AL359950;AMYH01005682;NG_007444 pseudo 20281 INFERRED 1603845 KRT8P10 keratin 8 pseudogene 10 2 2 2 q32.1 177531684 177533403 - 183644013 183647000 - 183935571 183937290 - 344320 ABBA01062310;AC064871;AMYH01011320;NG_009650 pseudo 33364 INFERRED 1345213 KRT8P11 keratin 8 pseudogene 11 9 9 9 q22.33 72581226 72582993 + 101107115 101108814 + 102067366 102069133 + 347265 Q9H552 ABBA01042902;AL137067;AMYH01021565;NG_005157 KRT8L1;RP11-13B9.3 keratin 8-like 1 pseudo 31058 INFERRED 1606454 KRT80 keratin 80 Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 12 12 12 q13.13 51365224 51388227 - 50849047 50872051 - 52562780 52585784 - 6480464 16831889;15737194;12477932;21145461;20843789;17207965;21800051;21987572;21139048;21906983 144501 Q6KB66 ABBA01031628;AC021066;AJ717743;AL162069;AMYH01004471;BC033114;BC047308;BC065180;BU151185;BX537567;CH471111;NG_012324;NM_001081492;NM_182507 AAH65180;ADQ32921;CAD97784;CAG30732;EAW58235;EAW58236;EAW58237;NP_001074961;NP_872313;Q6KB66 Hs.140978 1782738 SHGC-156072 KB20 CK-80;K80;OTTHUMP00000196565;OTTHUMP00000196566;cytokeratin-80;keratin b20;keratin, type II cytoskeletal 80;keratin-80;type II keratin;type-II keratin Kb20 APPROVED protein-coding ENSG00000167767 27056 14068 611161 REVIEWED 1604854 KRT8P13 keratin 8 pseudogene 13 3 3 3 q26.2 168612331 168614062 + 171695444 171697467 + 170213154 170214885 + 730023 ABBA01058677;AC008041;AMYH01013644;NG_005969 pseudo 33365 INFERRED 1606394 KRT8P14 keratin 8 pseudogene 14 X X X p11.3 49683498 49685237 - 45376368 45456907 - 45491316 45493055 - 347333 ABBA01052108;AL034412;AL391134;AMYH01022244;NG_009729 1702080;2188963 DXS1446;G66005 pseudo 33366 INFERRED 1604128 KRT8P15 keratin 8 pseudogene 15 2 2 2 q33.1 197457496 197459267 - 203413179 203444507 - 203704809 203706580 - 645834 ABBA01062590;AC010900;AMYH01011414;NG_009732 2111362 D2S1509E pseudo 33367 INFERRED 1318342 KRT83 keratin 83 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008] 12 12 q13 50994352 51001438 - 52708085 52715182 - 1580863;6480464;7240710 9084137;16831889;15797458;15744029;12477932;11445569;10692104;21987572;19380743 3889 P78385 ABBA01011917;ABBA01031630;AC121757;AK314904;AMYH01004472;BC069546;BC126935;BC128063;NG_008352;NM_002282;X99141;XM_003846559;XM_003846560;Y19208 AAH69546;AAI26936;AAI28064;BAG37418;CAA67578;CAB76828;NP_002273;P78385;XP_003846607;XP_003846608 Hs.720768 1340257;1748355 D12S270;G64253 HB3;Hb-3;KRTHB3;MGC141663 K83;OTTHUMP00000241740;hHb3;hair keratin K2.10;hard keratin, type II, 3;keratin, hair, basic, 3;keratin, type II cuticular Hb3;keratin-83;type II hair keratin Hb3;type-II keratin Kb23 APPROVED protein-coding ENSG00000170523 6460 09097 158000;602765 REVIEWED 1603815 KRT8P17 keratin 8 pseudogene 17 X X X p11.21 62168713 62170439 - 58027745 58029392 + 58011039 58012765 + 392479 ABBA01015325;AL034396;AMYH01022468;NG_005968 1730425 D13S187 pseudo 33369 INFERRED 1606855 KRT8P18 keratin 8 pseudogene 18 3 3 3 p22.3 35199024 35214142 - 35232198 35413349 - 35257005 35272126 - 442078 ABBA01024883;AC092052;AC096916;AC109585;AMYH01013081;NG_009736 1713879;1728521;1784916 G63698;RH119370;SHGC-85768 pseudo 33370 INFERRED 1603537 KRT8P16 keratin 8 pseudogene 16 10 10 10 p14 8504073 8509937 - 8618704 8624569 - 8578699 8584564 - 220959 ABBA01034722;AL139403;AMYH01002016;NG_006099 1712753 RH120090 pseudo 33368 INFERRED 1606615 KRT8P19 keratin 8 pseudogene 19 12 12 12 q14.1 61942184 61943912 + 60559366 60560820 + 62273025 62274753 + 644998 ABBA01026640;AC020647;AMYH01004534;NG_009706 1714457;1850082 RH119739;WI-3818 pseudo 33371 INFERRED 1605481 KRT8P20 keratin 8 pseudogene 20 7 7 7 p14.1 38682593 38684310 + 38661330 38662738 + 38694744 38696462 + 441218 AACC02000036;ABBA01056930;AC011309;AMYH01017189;CH236951;NG_009704 pseudo 33372 INFERRED 1605004 KRT8P21 keratin 8 pseudogene 21 1 1 1 p31.1 71806785 71808490 + 73264629 73344555 + 73570462 73572167 + 126811 ABBA01074437;AL606535;AL732618;AMYH01000709;NG_009686 2162227 D1S2466 pseudo 33373 INFERRED 1605536 KRT8P22 keratin 8 pseudogene 22 16 16 16 q23.1 62381427 62383097 - 76639896 76644312 - 78082196 78083869 - 342419 ABBA01017026;AC079414;AMYH01007826;NG_009713 pseudo ENSG00000260731 33374 INFERRED 1344322 KRT8P2 keratin 8 pseudogene 2 14 14 14 q21.2 23870167 23871045 - 43079726 43080604 - 44009876 44010718 - 338018;390472 ABBA01018029;AL358913;AMYH01005696;NG_029068 pseudo 20282 INFERRED 1605193 KRT8P23 keratin 8 pseudogene 23 15 15 15 q24.3 54202760 54204342 - 75058404 75059892 - 77271286 77272868 - 390610 ABBA01060558;AC090181;AMYH01006823;NG_009733 pseudo 33375 INFERRED 1605780 KRT8P25 keratin 8 pseudogene 25 3 3 3 p11.2 88125607 88127316 + 87455108 87456563 + 87372346 87374056 + 6480464 402134 ABBA01004629;AC130885;AMYH01013324;NG_009735 pseudo 33377 INFERRED 1606378 KRT8P26 keratin 8 pseudogene 26 11 11 11 q13.1 62821693 62822841 + 65251112 65252098 + 65494338 65495486 + 390211 ABBA01024103;AMYH01003724;AP001266;AP001362;NG_005967 pseudo 33378 INFERRED 1606847 KRT8P24 keratin 8 pseudogene 24 15 15 15 q21.1 26157548 26159387 + 47045153 47052853 + 49263922 49265761 + 729344 ABBA01039133;ABBA01039134;AC091073;AMYH01006629;NG_009475 pseudo 33376 INFERRED 1352979 KRT81 keratin 81 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008] 12 12 q13 50965964 50971566 - 52679697 52685299 - 1600197;1580863;6480464;7240710 9402962 16189514;18021261;16831889;15797458;15489334;15231748;14520698;12477932;11792552;10692104;9665406;9457912;7528047;7490069;7556444;19615732;21799879;19738201;21987572;23438482;22539802;23088713;19380743 3887 Q14533 ABBA01031630;AC121757;AMYH01004471;AY121753;AY123848;BC006452;BC021241;BC031978;BC117465;BC117467;CH471111;NG_008184;NM_002281;S75796;X80197;X81420;Y13621;Y19206 AAB32813;AAH06452;AAH21241;AAI17466;AAI17468;AAM92877;AAM94951;ADR83185;CAA56488;CAA57180;CAA73943;CAB76826;EAW58243;NP_002272;Q14533 Hs.658118 1687311;1694726;1748353;2109461;2122675 G64252;KRTHB1_8430;RH121971;RH17914;RH98291 HB1;Hb-1;KRTHB1;MLN137;ghHkb1;hHAKB2-1 K81;MLN 137;OTTHUMP00000236200;ghHb1;hair keratin K2.9;hard keratin, type II, 1;keratin, hair, basic, 1;keratin, type II cuticular Hb1;keratin-81;metastatic lymph node 137 gene protein;type II hair keratin Hb1;type-II keratin Kb21 APPROVED protein-coding ENSG00000205426 6458 03691 158000;602153 REVIEWED 1604147 KRT8P28 keratin 8 pseudogene 28 1 1 1 q21.3 125036499 125038094 - 150148587 150190013 - 151921871 151923466 - 391099 ABBA01049408;AL450992;AMYH01001395;NG_009726 pseudo 33380 INFERRED 1605767 KRT8P27 keratin 8 pseudogene 27 X X X q11.2 64188971 64191266 + 63758885 63761180 + 63842160 63844455 + 442455 ABBA01066916;AL356265;AMYH01022495;NG_009685 pseudo 33379 INFERRED 1603818 KRT8P29 keratin 8 pseudogene 29 1 1 1 q32.1 176977048 176978658 - 202108325 202109938 - 203841702 203843315 - 391155 ABBA01027466;AC118554;AMYH01001658;NG_009747 1781532 SHGC-143044 pseudo 33381 INFERRED 1606641 KRT8P30 keratin 8 pseudogene 30 2 2 2 q35 213587864 213588446 - 219526367 219526949 - 219818123 219818705 - 391485 ABBA01023854;AC097468;AMYH01011499;NG_009677 pseudo 33382 INFERRED 5130834 KRT8P32 keratin 8 pseudogene 32 5 5 q15 93611803 93613531 - 97727585 97729314 - 100289133 ABBA01069211;AC094106;AMYH01015493;NG_021858 pseudo 39866 INFERRED 5130831 KRT8P33 keratin 8 pseudogene 33 5 5 118691901 118693597 - 122736416 122738112 - 100418737 ABBA01068940;AC010369;AMYH01015589;NG_024625 pseudo 39867 INFERRED 5130824 KRT8P34 keratin 8 pseudogene 34 17 17 34651261 34652982 - 37991025 37992746 - 100418811 ABBA01031852;AC090844;AMYH01008376;NG_026180;NG_029104 pseudo 39868 INFERRED 5130829 KRT8P35 keratin 8 pseudogene 35 3 3 63099850 63101359 - 63081922 63083431 - 100418747 ABBA01024325;AC104299;AMYH01013243;NG_025586 2136548 D12S1995 pseudo 39869 INFERRED 5130837 KRT8P31 keratin 8 pseudogene 31 5 5 5 q12.1 56980074 56981754 - 60075145 60079855 - 60039191 60040871 - 728167 ABBA01015803;AC109133;AMYH01015108;NG_021853 pseudo 39865 INFERRED 5130835 KRT8P37 keratin 8 pseudogene 37 10 10 p14 8480842 8482550 - 8555462 8557170 - 100287325 ABBA01034722;AC025946;AMYH01002016;NG_022138 pseudo 39871 INFERRED 5130828 KRT8P36 keratin 8 pseudogene 36 3 3 136244751 136246463 - 137820123 137821835 - 100418748 ABBA01059096;AC023049;AMYH01013531;NG_025632 pseudo 39870 INFERRED 5130825 KRT8P38 keratin 8 pseudogene 38 10 10 84234123 84235493 + 90487301 90488671 + 100418799 ABBA01021953;AL358532;AMYH01002933;NG_025532 pseudo 39872 INFERRED 5130826 KRT8P39 keratin 8 pseudogene 39 12 12 68762787 68764496 + 69099336 69101045 + 100418781 ABBA01026552;AC124890;AMYH01004562;NG_024106 pseudo 39873 INFERRED 1350995 KRT8P4 keratin 8 pseudogene 4 399552 31057 5130832 KRT8P40 keratin 8 pseudogene 40 2 2 171665150 171665719 + 178062709 178063278 + 100418728 ABBA01062229;AC079305;AMYH01011297;NG_023748 pseudo 39874 INFERRED 5130827 KRT8P42 keratin 8 pseudogene 42 6 6 135358910 135360892 - 134617937 134619919 - 100418750 ABBA01025856;AL355881;AMYH01016686;NG_025872 pseudo 39876 INFERRED 5130833 KRT8P43 keratin 8 pseudogene 43 6 6 p22.3 25831526 25833560 + 24598180 24600214 + 100289319 ABBA01066537;AL031230;AL512385;AMYH01016151;NG_016206;NG_022349 1716795;2125371 D6S2298;RH121692 pseudo 39877 INFERRED 1353644 KRT8P3 keratin 8 pseudogene 3 8 8 q12.3 62653256 62655044 + 62490703 62492474 + 21906983;11181995 399551;728638 ABBA01041827;AC090094;AMYH01018760;CH471068;NG_006536;NG_013210 EAW86850;EAW86851 APPROVED pseudo 31056 INFERRED 5130836 KRT8P44 keratin 8 pseudogene 44 6 6 6 q26 163718961 163720618 + 162909401 162910750 + 162989335 162990998 + 100129958 ABBA01015123;AMYH01016833;AP000888;CH471051;NG_008289;NG_023305 EAW47576 pseudo 39878 VALIDATED 5130830 KRT8P46 keratin 8 pseudogene 46 4 4 100948957 100950655 - 103649706 103651404 - 100418744 ABBA01063702;AC018797;AMYH01014432;NG_025145 pseudo 39880 INFERRED 6904254 KRT8P47 keratin 8 pseudogene 47 1 p34.1 44568812 44570377 - 644743 ABBA01050931;AL139220;AMYH01000566;NG_022720 1692370;2178345 AL033831;SHGC-74670 pseudo 44461 INFERRED 5130839 KRT8P45 keratin 8 pseudogene 45 1 1 1 q23.1 130114156 130115876 + 155306920 155311382 + 157042973 157044690 + 149501 ABBA01016640;AL157713;AMYH01001441;NG_022808 pseudo 39879 INFERRED 7243768 KRT8P48 keratin 8 pseudogene 48 100887067 ABBA01026335;AC011357;AMYH01015691;NG_032709 pseudo 48344 INFERRED 7243432 KRT8P49 keratin 8 pseudogene 49 643447 ABBA01028642;AC103710;AMYH01003362;NG_021770 pseudo 48345 INFERRED 1603465 KRT8P6 keratin 8 pseudogene 6 X X X q26.3 137935805 137937049 - 137397418 137398848 - 137569827 137571071 - 392552 ABBA01065945;AMYH01023055;NG_021118;Z81311 5094460 G54811 pseudo 33360 INFERRED 1603718 KRT8P7 keratin 8 pseudogene 7 11 11 11 q23.3 116634468 116636187 - 118978782 118984278 - 119473373 119475092 - 729131 ABBA01039666;AMYH01004087;AP003393;NG_009479 1672060;1764759;2164626 A007K41;SHGC-148338;WI-12594 pseudo 33361 INFERRED 1348279 KRT8P5 keratin 8 pseudogene 5 18 18 18 q12.3 38709375 38711103 - 40154759 40160378 - 41900525 41902253 - 23251661 342732 ABBA01022346;AC110014;AMYH01008962;NG_007003 pseudo 31094 INFERRED 1604904 KRT8P8 keratin 8 pseudogene 8 X X X q28 151894742 151896465 + 151369753 151400152 + 151647973 151649696 + 402429 ABBA01037318;AC108171;AMYH01023234;NG_009749 pseudo 33362 INFERRED 1605194 KRT8P9 keratin 8 pseudogene 9 15 15 15 q23 48041875 48043600 + 68938036 68939555 + 71150976 71152701 + 390601 ABBA01038750;AC090868;AMYH01006749;NG_009731 1686764;1740185;2187249 D15S893;D8S1691;RH11335 pseudo 33363 INFERRED 1343377 KRT84 keratin 84 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008] 12 12 12 q13 52417750 52425573 - 51057863 51065684 - 52771596 52779417 - 1580863;6480464 21145461;10692104;16831889;15737194;15489334;12477932;2431943;19615732;21906983;19380743 3890 Q9NSB2 ABBA01008291;AC078865;AJ628420;AK314030;AMYH01004472;BC069647;CH471054;NG_012299;NM_033045;Y19209 AAH69647;BAG36740;CAB76829;CAF31524;EAW96623;NP_149034;Q9NSB2 Hs.272336 1757785 SHGC-146512 HB4;KRTHB4 K84;OTTHUMP00000241743;hard keratin, type II, 4;keratin, hair, basic, 4;keratin, type II cuticular Hb4;keratin-84;type II hair keratin 4;type II hair keratin Hb4;type-II keratin Kb24 APPROVED protein-coding ENSG00000161849 6461 09098 602766 REVIEWED 1605908 KRT8P12 keratin 8 pseudogene 12 3 3 3 q25.33 158707581 158709274 + 161768161 161770049 + 160285567 160287260 + 6480464 12477932 90133 ABBA01058795;AC078868;AL133645;AMYH01013616;BC125159;BC125160;NG_005512 Hs.595594 2124554 RH78601 KRT8L2 pseudo 28057 INFERRED 1349275 KRTAP1-4 keratin associated protein 1-4 The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009] 17 17 17 q21.2 35847556 35847936 - 36439491 36439856 - 39185929 39186377 - 16625196;12228244;11279113 728255 P0C5Y4 ABBA01031818;AC007455;AC037482;AMYH01008386;NM_001257305 NP_001244234;P0C5Y4 Hs.744827 1772856 D17S1196 KAP1.4;KRTAP1.4 OTTHUMP00000165000;high sulfur keratin-associated protein 1.4;keratin associated protein 1-4;keratin-associated protein 1-4;keratin-associated protein 1.4 APPROVED protein-coding ENSG00000204887 18904 608821 VALIDATED 735536 KRT8 keratin 8 This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 12 12 q13 51577238 51585127 - 53290971 53343650 - 1600062;1580863;6480464;7240710 11372009 14556659;12868678;12724528;12577067;12477932;12474161;12429849;12388748;12367790;12366696;12235123;12218095;12168793;11923318;11790298;11788583;11781324;11581269;11076863;10852826;10809736;9988531;9630597;9560222;9459484;9409741;9211903;9150948;9054461;8895530;8125298;8037842;6186379;2482017;2471065;2467436;2459839;2456993;2434381;1711732;1705144;1692965;1691124;1374067;16169070;1690513;1371500;10954706;11684708;16608857;19419944;19204726;19190970;19115206;19032382;18953437;18941637;18725232;18577580;18497550;18432282;18353540;18343496;18236071;17954264;17509943;17373842;17353931;17213200;17126832;17081983;17039343;17034788;16964243;16911694;16892178;16831889;16818723;16565220;16381901;16344560;16341674;16327287;16143128;16083285;16000376;15972820;15952740;15846844;15838910;15822942;15737616;15731013;15529338;15489336;15489334;15368451;15319370;15314064;15252834;15248378;15235035;15194421;15090596;14756564;14568682;22379894;20587546;20659422;10791969;20530580;19246484;19585610;19615732;19755983;19845941;20109457;20538000;20398190;20098747;20936779;19188445;20729549;20817646;22270320;20926822;22853896;23327593;21548936;20508642;23341946;22939629;16944923;20618440;21705376;21900206;12938929;21062750;21139048;21890473;21906983;21963094;21987572;22178446;16212417;19738201;19805454;20972266;21565611;21988832;22053931;22304920;22623428;23358244;23438482;22419260;17685470;19282868;22114688;21743057;22412904;22344252;22354665;23164509;22677743;19380743;22505724;23078008;23398456;23449973 3856 F8VP67;F8VQY3;F8VRG4;F8VUG2;F8W1U3;H0YIB2;Q6DHW5;Q7L4M3 ABBA01008297;ABBA01008298;ABBA01008299;ABBA01008300;ABBA01008301;AC107016;AI150751;AK222941;AK290938;AK310257;AK315826;AMYH01004474;AMYH01004475;BC000654;BC008200;BC011373;BC063513;BC073760;BC075839;BE300986;BM854215;BX417476;CH471054;CX166336;DA051933;DA825311;M26512;M26513;M34225;M34482;M77025;NG_008402;NM_001256282;NM_001256293;NM_002273;NR_045962;U76549;X12882;X74929;X74981;X98614;Z36777 AAA35748;AAA35763;AAA51542;AAB18966;AAH00654;AAH08200;AAH11373;AAH63513;AAH73760;AAH75839;ABM83563;ABM86801;BAD96661;BAF83627;BAF98717;CAA31376;CAA52882;CAA52916;CAA67203;CAL37704;CAL37770;EAW96651;EAW96652;EAW96653;EAW96654;NP_001243211;NP_001243222;NP_002264;P05787 Hs.533782;Hs.708445 1732353;1743947;5015678;5113059;5114655;5120325 D12S765;D17S1697;GDB:277179;GDB:376877;RH47175;RH79790 CARD2;CK-8;CK8;CYK8;K2C8;K8;KO CK-8;OTTHUMP00000242366;OTTHUMP00000242367;OTTHUMP00000242368;OTTHUMP00000242369;OTTHUMP00000242370;cytokeratin 8;cytokeratin-8;keratin, type II cytoskeletal 8;keratin-8;type-II keratin Kb8 APPROVED protein-coding ENSG00000170421 6446 01015 148060;215600 REVIEWED 1348087 KRT86 keratin 86 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008] 12 12 q13 50981916 50989214 + 52695649 52702947 + 1600198;1580863;6480464;7240710 9241275 18393232;16831889;15797458;15489334;15183744;12477932;10692104;10594761;10504448;10469314;9457912;9402962;9084137;7556444;19505862;17207965;21139048;22568869;21987572;22670615;19380743 3892 O43790;Q9NSB0 ABBA01031630;AC121757;AF416705;AF416706;AJ000263;AK057905;AK292237;AK297794;AMYH01004471;AMYH01004472;AY152543;AY152544;AY152545;BC069585;NG_008086;NM_002284;X99142;Y19211 AAH69585;AAN04663;AAN04664;AAN75225;AAN75226;AAN75227;ADQ31947;BAF84926;BAG60134;CAA03979;CAA67579;CAB76831;NP_002275;O43790 Hs.278658 1687311;1694726;1732349;1748353;1748359;1756013;2109461;2122675;2156818;2217548 D12S763;G64252;G64254;KRT7_2779;KRTHB1_8430;RH121971;RH17914;RH98291;SGC33015;SHGC-142829 FLJ25176;HB6;Hb1;KRTHB1;KRTHB6;MNX;hHb6 K86;OTTHUMP00000241597;hair keratin K2.11;hard keratin, type II, 6;keratin protein HB6;keratin, hair, basic, 6 (monilethrix);keratin, type II cuticular Hb6;keratin-86;type II hair keratin Hb6;type-II keratin Kb26 APPROVED protein-coding ENSG00000170442 6463 03567 158000;601928 REVIEWED 1345335 KRTAP10-10 keratin associated protein 10-10 21 21 21 q22.3 31164909 31166008 + 44881701 44882800 + 46057273 46058372 + 1580863;6480464 15028290;14962103;10830953 353333 P60014 AB076358;ABBA01074169;AJ566387;AL773602;AMYH01012297;CH471079;NM_181688 AAI56524;AAI72516;BAD01545;CAD97467;EAX09410;NP_859016;P60014 Hs.474001 KAP10.10;KAP18.10;KRTAP18-10;KRTAP18.10 OTTHUMP00000063327;high sulfur keratin-associated protein 10.10;keratin-associated protein 10-10;keratin-associated protein 10.10;keratin-associated protein 18-10;keratin-associated protein 18.10 protein-coding ENSG00000221859 22972 11185 PROVISIONAL 5130791 KRT8P41 keratin 8 pseudogene 41 11 11 11 p15.4 9237760 9239589 + 9072494 9074167 + 9115910 9117737 + 12477932 283102 Q6ZRU0 ABBA01061201;AC079296;AK127993;AMYH01003379;BC093663;BC112006;NR_027713 BAC87219 Hs.689472 5493319 UniSTS:485693 FLJ46111;MGC138211 pseudo ENSG00000213538 39875 VALIDATED 736715 KRT9 keratin 9 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008] 17 17 q21.2 36975622 36981836 - 39722093 39728310 - 1600065;1580863;6480464;7240710 7512862 17373842;8647270;10218578;7507869;18029348;19106041;18573708;18477167;17362238;16831889;16043929;14675368;12532041;12477932;11774369;9856842;9204965;7532199;7523529;7516304;7511021;7504553;21145461;2140676;1385292;21489919;15324660;16169070;19451521;19548225;19874353;20964665;22939629;20391533;23084401;21221983;21151833;21800051;21715251;22262370;15174051;16212417;19738201;21565611;22623428;22178446;22678789;23397986;23265708;19380743;23398456 3857 K7EQQ3;P35527 AB001594;ABBA01031809;AC019349;AMYH01008387;BC121170;CH471152;NG_008300;NM_000226;S69510;X75015;Z29074 AAC60619;AAI21171;AAI67813;BAA19418;CAA52924;CAA82315;EAW60744;NP_000217;P35527 Hs.654569 1339372;1743429;1743431;1759369 D17S1787;GDB:316944;GDB:316947;SHGC-150918 CK-9;EPPK;K9 OTTHUMP00000164967;cytokeratin 9;cytokeratin-9;keratin, type I cytoskeletal 9;keratin-9;type I cytoskeletal 9 APPROVED protein-coding ENSG00000171403 6447 06351 144200;607606 REVIEWED 6481180 KRTAP10-13P keratin associated protein 10-13, pseudogene 21 46121949 46122716 + 100874224 ABBA01074170;AL773604;AMYH01012297;NG_032197 pseudo 34213 INFERRED 1605519 KRTAP10-2 keratin associated protein 10-2 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31077991 31079046 - 44794746 44795816 - 45970318 45971388 - 15028290;14962103;12359730;10830953 386679 P60368;Q76LM9 AB076348;AB076349;ABBA01074169;AJ566381;AMYH01012297;AP001067;CH471079;NM_198693 AAI46373;AAI46566;BAD01535;BAD01536;CAD97462;EAX09419;NP_941966;P60368 Hs.664660;Hs.689667 5493509 UniSTS:486938 KAP10.2;KAP18-2;KAP18.2;KRTAP10.2;KRTAP18-2;KRTAP18.2 OTTHUMP00000063321;high sulfur keratin-associated protein 10.2;keratin-associated protein 10-2;keratin-associated protein 10.2;keratin-associated protein 18-2;keratin-associated protein 18.2 APPROVED protein-coding ENSG00000205445 22967 11188 REVIEWED 1345098 KRTAP1-1 keratin associated protein 1-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q12 35858415 35859317 - 36450337 36451239 - 39196811 39197713 - 1580863 15489334;12477932;12228244;11841537;11279113 81851 Q07627 AB052868;AB052934;AB055057;ABBA01031817;AC007455;AC037482;AJ406926;AMYH01008386;BC069321;BC069450;BC105069;BC105071;CH471152;NM_030967;X63337 AAI05070;AAI05072;BAB61024;BAB61026;BAB61031;CAA44937;CAC27565;EAW60699;NP_112229;Q07627 Hs.247934 5492957;5493959 UniSTS:480525;UniSTS:483435 HB2A;KAP1.1;KAP1.1A;KAP1.1B;KAP1.6;KAP1.7;KRTAP1.1;KRTAP1A;hKAP1.7 OTTHUMP00000164958;high sulfur keratin-associated protein 1.1;keratin associated protein 1.7;keratin associated protein 1A;keratin-associated protein 1-1;keratin-associated protein 1.1;keratin-associated protein 1.6;keratin-associated protein 1.7 APPROVED protein-coding ENSG00000188581 16772 12304 608819 REVIEWED 1351871 KRTAP1-3 keratin associated protein 1-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35851742 35852713 - 36443662 36444633 - 39190136 39191107 - 6480464 1279380;15489334;12477932;12228244;11279113 81850 Q8IUG1 AB081339;ABBA01031818;AC007455;AC037482;AJ406927;AMYH01008386;BC069161;BC101150;BC101151;BC101152;BC101153;CH471152;NM_030966 AAH69161;AAI01151;AAI01152;AAI01153;AAI01154;BAC15620;CAC27566;EAW60698;NP_112228;Q8IUG1 Hs.534495 5492827;5493953 UniSTS:480523;UniSTS:482901 KAP1.2;KAP1.3;KAP1.6;KAP1.8A;KAP1.8B;KAP1.9;KRTAP1.3;MGC119903;MGC119904;MGC119905 OTTHUMP00000164950;keratin associated protein 1.6;keratin-associated protein 1-3;keratin-associated protein 1.8;keratin-associated protein 1.9 APPROVED protein-coding ENSG00000221880 16771 12305 608820 REVIEWED 1347123 KRTAP1-5 keratin associated protein 1-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35843884 35845060 - 36435804 36436980 - 39182278 39183454 - 1580863;6480464 15489334;12477932;12228244;11279113 83895 Q9BYS1 ABBA01031818;AC007455;AC037482;AJ406928;AMYH01008386;BC069533;BC093841;BC101555;CH471152;NM_031957 AAH69533;AAH93841;AAI01556;CAC27567;EAW60697;NP_114163;Q9BYS1 Hs.534499 5492413;5493299 UniSTS:480970;UniSTS:485631 KAP1.5;KRTAP1.5;MGC126604 OTTHUMP00000164953;high sulfur keratin-associated protein 1.5;keratin associated protein 1.5;keratin-associated protein 1-5;keratin-associated protein 1.5 APPROVED protein-coding ENSG00000221852 16777 12306 608822 REVIEWED 1354095 KRTAP10-11 keratin associated protein 10-11 21 21 21 q22.3 31173967 31175203 + 44890759 44891995 + 46066331 46067567 + 15028290;12477932;10830953 386678 P60411;P60412 AB076359;ABBA01074169;AF086314;AL773602;AMYH01012297;BC131611;BX103563;CH471079;NM_198692 AAI31612;BAD01546;EAX09409;NP_941965;P60412 Hs.58076 1700712 RH103979 KAP10.11;KAP18.11;KRTAP18-11;KRTAP18.11 OTTHUMP00000063322;high sulfur keratin-associated protein 10.11;keratin associated protein 18-11;keratin-associated protein 10-11;keratin-associated protein 10.11;keratin-associated protein 18-11;keratin-associated protein 18.11 protein-coding ENSG00000243489 20528 11186 VALIDATED 1605520 KRTAP10-1 keratin associated protein 10-1 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31066742 31067752 - 44783496 44784506 - 45959068 45960078 - 15028290;14962103;12477932;12359730;10830953 386677 P60331 AB076347;ABBA01074169;AJ566380;AMYH01012297;AP001067;BC120959;BC120960;CH471079;NM_198691 AAI20960;AAI20961;BAD01534;CAD97461;EAX09420;NP_941964;P60331 Hs.688631 KAP10.1;KAP18-1;KAP18.1;KRTAP10.1;KRTAP18-1;KRTAP18.1 OTTHUMP00000063323;high sulfur keratin-associated protein 10.1;keratin-associated protein 10-1;keratin-associated protein 10.1;keratin-associated protein 18-1;keratin-associated protein 18.1 APPROVED protein-coding ENSG00000215455 22966 11184 REVIEWED 1350396 KRTAP10-12 keratin associated protein 10-12 21 21 21 q22.3 31224656 31225528 + 44941515 44942387 + 46117087 46117959 + 15028290;10830953;12477932 386685 P60413 AB076364;ABBA01074170;AL773604;AMYH01012297;BC137339;BC137341;CH471079;NM_198699 AAI37340;AAI37342;BAD01551;EAX09404;NP_941972;P60413 Hs.297526 KAP10.12;KRTAP18-12;KRTAP18.12 OTTHUMP00000063325;high sulfur keratin-associated protein 10.12;keratin associated protein 18-12;keratin-associated protein 10-12;keratin-associated protein 10.12;keratin-associated protein 18-12;keratin-associated protein 18.12 protein-coding ENSG00000189169 20533 11187 PROVISIONAL 1605517 KRTAP10-3 keratin associated protein 10-3 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31085576 31086313 - 44802334 44803071 - 45977906 45978643 - 6480464 15028290;14962103;12359730;10830953;12477932 386682 P60369 AB076350;ABBA01074169;AJ566383;AMYH01012297;AP001067;BC133677;NM_198696 AAI33678;BAD01537;CAD97463;NP_941969;P60369 Hs.688630 KAP10.3;KAP18-3;KAP18.3;KRTAP10.3;KRTAP18-3;KRTAP18.3 OTTHUMP00000063324;high sulfur keratin-associated protein 10.3;keratin-associated protein 10-3;keratin-associated protein 10.3;keratin-associated protein 18-3;keratin-associated protein 18.3 APPROVED protein-coding 22968 11189 REVIEWED 1345547 KRTAP10-4 keratin associated protein 10-4 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31101276 31102657 + 44818034 44819415 + 45993606 45994987 + 15489334;15028290;14962103;12359730;10830953;12477932 386672 P60372 AB076351;ABBA01074169;AJ566382;AL773602;AMYH01012297;BC125048;BC125049;CH471079;NM_198687 AAI25049;AAI25050;BAD01538;EAX09416;NP_941960;P60372 Hs.567901 1730924;7187920 D21S171 KAP10.4;KAP18-4;KRTAP10.4;KRTAP18-4;KRTAP18.4;MGC149545;MGC149546 OTTHUMP00000063336;high sulfur keratin-associated protein 10.4;keratin associated protein 18-4;keratin-associated protein 10-4;keratin-associated protein 10.4;keratin-associated protein 18-4;keratin-associated protein 18.4 APPROVED protein-coding ENSG00000215454 20521 11190 REVIEWED 1349451 KRTAP10-6 keratin associated protein 10-6 21 21 21 q22.3 31118823 31120060 - 44835577 44836814 - 46011149 46012386 - 15028290;14962103;12477932;12359730;10830953 386674 P60371 AB076353;ABBA01074169;AL773602;AMYH01012297;BC140725;CH471079;NM_198688 AAI40726;AAI60131;BAD01540;EAX09414;NP_941961;P60371 Hs.689666 KAP10.6;KAP18.6;KRTAP18-6;KRTAP18.6 OTTHUMP00000063330;high sulfur keratin-associated protein 10.6;keratin associated protein 18-6;keratin-associated protein 10-6;keratin-associated protein 10.6;keratin-associated protein 18-6;keratin-associated protein 18.6 protein-coding ENSG00000188155 20523 11192 VALIDATED 1605518 KRTAP10-5 keratin associated protein 10-5 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31107234 31108151 - 44823992 44824909 - 45999564 46000481 - 15489334;15028290;14962103;12477932;12359730;10830953 386680 P60370 AB076352;ABBA01074169;AJ566384;AL773602;AMYH01012297;BC120949;BC120950;CH471079;NM_198694 AAI20950;AAI20951;BAD01539;CAD97464;EAX09415;NP_941967;P60370 Hs.688629 KAP10.5;KAP18-5;KAP18.5;KRTAP10.5;KRTAP18-5;KRTAP18.1;KRTAP18.5 OTTHUMP00000063334;high sulfur keratin-associated protein 10.5;keratin-associated protein 10-5;keratin-associated protein 10.5;keratin-associated protein 18-5;keratin-associated protein 18.5 APPROVED protein-coding 22969 11191 REVIEWED 1605522 KRTAP10-7 keratin associated protein 10-7 21 21 21 q22.3 31128158 31129735 + 44844925 44846519 + 46020497 46022091 + 15028290;14962103;12477932;12359730;10830953;17803354;21832049 386675 P60409 AB076354;ABBA01074169;AJ566385;AL773602;AMYH01012297;AP001067;BC119643;CH471079;NM_198689 AAI19644;BAD01541;CAD97465;EAX09413;NP_941962;P60409 Hs.473999 KAP10.7;KAP18.7;KRTAP18-7 OTTHUMP00000063331;high sulfur keratin-associated protein 10.7;keratin associated protein 18-7;keratin-associated protein 10-7;keratin-associated protein 10.7;keratin-associated protein 18-7;keratin-associated protein 18.7 protein-coding ENSG00000205441 22970 11193 VALIDATED 1350615 KRTAP12-3 keratin associated protein 12-3 21 21 21 q22.3 31185485 31185894 + 44902277 44902686 + 46077849 46078258 + 15028290;10830953 386683 P60328 AB076361;ABBA01074169;AL773602;AMYH01012297;CH471079;NM_198697 AAI60116;BAD01548;EAX09407;NP_941970;P60328 Hs.528023 2219870 KRTAP12-3__6347 KRTAP12.3 OTTHUMP00000063326;high sulfur keratin-associated protein 12.3;keratin-associated protein 12-3;keratin-associated protein 12.3 protein-coding ENSG00000205439 20531 11199 VALIDATED 1605521 KRTAP10-9 keratin associated protein 10-9 21 21 21 q22.3 31154676 31155931 + 44871468 44872723 + 46047040 46048295 + 15028290;14962103;10830953;12477932 386676 P60411;Q76LM8 AB076356;AB076357;ABBA01074169;AJ566386;AL773602;AMYH01012297;BC131613;CH471079;NM_198690 AAI31614;BAD01543;BAD01544;CAD97466;EAX09411;NP_941963;P60411 Hs.474000 5493509 UniSTS:486938 KAP10.9;KAP18.9;KRTAP18-9 OTTHUMP00000063333;high sulfur keratin-associated protein 10.9;keratin associated protein 18-9;keratin-associated protein 10-9;keratin-associated protein 10.9;keratin-associated protein 18-9;keratin-associated protein 18.9 protein-coding ENSG00000221837 22971 11195 VALIDATED 1350814 KRTAP11-1 keratin associated protein 11-1 21 21 21 q22.1 17435937 17436848 - 31174834 31175745 - 32252963 32253874 - 1580863 15385554;12359730;10830953;12477932;20494980 337880 Q3LI55;Q8IUC1 AB096963;ABBA01057277;AJ457065;AMYH01012192;AP000244;BC130555;BC130557;NM_175858 AAI30556;AAI30558;BAE46378;CAD29721;NP_787054;Q8IUC1 Hs.407654 HACL-1;HACL1;KAP11.1 OTTHUMP00000063456;high sulfur keratin-associated protein 11.1;keratin-associated protein 11-1 protein-coding ENSG00000182591 18922 11196 600064 VALIDATED 1342479 KRTAP10-8 keratin associated protein 10-8 21 21 21 q22.3 31139631 31140506 + 44856424 44857299 + 46031996 46032871 + 15489334;15028290;12477932;10830953 386681 P60410 AB076355;ABBA01074169;AL773602;AMYH01012297;BC127016;CH471079;NM_198695 AAI27017;BAD01542;EAX09412;NP_941968;P60410 Hs.528021 KAP10.8;KRTAP18-8;KRTAP18.8 OTTHUMP00000063328;high sulfur keratin-associated protein 10.8;keratin associated protein 18-8;keratin-associated protein 10-8;keratin-associated protein 10.8;keratin-associated protein 18-8;keratin-associated protein 18.8 protein-coding ENSG00000187766 20525 11194 VALIDATED 1343187 KRTAP13-1 keratin associated protein 13-1 Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008] 21 21 21 q22.1 16951529 16952277 + 30690263 30691011 + 31768392 31769140 + 1580863;6480464 12477932;12359730;10830953 140258 Q8IUC0 AB096939;ABBA01057270;AJ457066;AMYH01012189;AP000567;AP001708;BC113536;BC113538;CH471079;NM_181599 AAI13537;AAI13539;BAE46354;CAD29722;EAX09899;NP_853630;Q8IUC0 Hs.407653 5492977 UniSTS:483528 KAP13.1;KRTAP13.1 OTTHUMP00000063472;high sulfur keratin associated protein 13.1;high sulfur keratin-associated protein 13.1;keratin-associated protein 13-1 APPROVED protein-coding ENSG00000198390 18924 10570 608718 VALIDATED 1353317 KRTAP13-5P keratin associated protein 13-5, pseudogene 21 21 21 q22.1 16992119 16992418 - 30730743 30731242 - 31808972 31809271 - 12359730;10830953 337964 ABBA01057270;AMYH01012189;AP000567;AP001708;NG_002667 KAP13A;KRTAP13P1 APPROVED pseudo 18929 INFERRED 1603508 KRTAP13-6P keratin associated protein 13-6, pseudogene 21 21 21 q22.1 16912226 16912326 - 30650864 30651164 - 31729093 31729193 - 12359730 337965 ABBA01057269;AMYH01012189;AP000885;NG_002668 1750555 SHGC-111862 KAP13B;KRTAP13P2 APPROVED pseudo 18930 INFERRED 1343627 KRTAP12-1 keratin associated protein 12-1 21 21 21 q22.3 31209126 31209713 - 44925919 44926506 - 46101491 46102078 - 1580863;6480464 15489334;15028290;14962103;12477932;10830953 353332 P59990 AB076363;ABBA01074170;AJ566388;AL773604;AMYH01012297;BC119713;BC120942;BC127648;CH471079;NM_181686 AAI19714;AAI20943;AAI27649;BAD01550;CAD97468;EAX09405;NP_859014;P59990 Hs.688628 KAP12.1;KRTAP12.1 OTTHUMP00000063335;high sulfur keratin-associated protein 12.1;keratin-associated protein 12-1;keratin-associated protein 12.1 protein-coding ENSG00000187175 20529 11197 VALIDATED 1602313 KRTAP16-1 keratin associated protein 16-1 17 17 q21.2 36117145 36118698 - 39463952 39465505 - 11279113;10830953;11181995;16625196 100505753 A8MUX0 ABBA01031811;AC003958;AMYH01008387;CH471152;NM_001146182 A8MUX0;EAW60725;NP_001139654 Hs.721600 KAP16.1 OTTHUMP00000165006;keratin-associated protein 16-1;putative keratin-associated protein 10-like ENSP00000375147 protein-coding ENSG00000212657 18916 INFERRED 1347376 KRTAP12-4 keratin associated protein 12-4 21 21 21 q22.3 31181766 31182212 - 44898558 44899004 - 46074130 46074576 - 15489334;15028290;10830953;12477932 386684 P60329 AB076360;ABBA01074169;AL773602;AMYH01012297;BC125198;CH471079;NM_198698 AAI25199;BAD01547;EAX09408;NP_941971;P60329 Hs.689664 2219872 KRTAP12-4__6348 KRTAP12.4;MGC150594 OTTHUMP00000063329;high sulfur keratin-associated protein 12.4;keratin-associated protein 12-4;keratin-associated protein 12.4 protein-coding ENSG00000212933 20532 11200 PROVISIONAL 1352453 KRTAP12-2 keratin associated protein 12-2 21 21 21 q22.3 31193740 31194478 - 44910534 44911272 - 46086106 46086844 - 1580863 15489334;15028290;14962103;12477932;10830953 353323 P59991 AB076362;ABBA01074169;AJ566389;AL773602;AMYH01012297;BC120941;CH471079;NM_181684 AAI20942;BAD01549;CAD97469;EAX09406;NP_859012;P59991 Hs.567902 KAP12.2;KRTAP12.2 OTTHUMP00000063332;high sulfur keratin-associated protein 12.2;keratin-associated protein 12-2;keratin-associated protein 12.2 protein-coding ENSG00000221864 20530 11198 VALIDATED 1603504 KRTAP19-10P keratin associated protein 19-10, pseudogene 21 21 21 q22.1 17070031 17070282 - 30808669 30809120 - 31886898 31887149 - 12359730 337983 ABBA01057270;AMYH01012190;AP000567;NG_002689 KAP19B;KRTAP19P2 APPROVED pseudo 18951 INFERRED 1603503 KRTAP19-11P keratin associated protein 19-11, pseudogene 21 21 21 q22.1 17092638 17092870 - 30831268 30831698 - 31909497 31909727 - 12359730 337984 ABBA01057270;AMYH01012190;AP000567;NG_002671 KAP19C;KRTAP19P3 APPROVED pseudo 18952 INFERRED 1345812 KRTAP13-2 keratin associated protein 13-2 21 21 21 q22.1 16926843 16927691 - 30665580 30666428 - 31743709 31744557 - 15489334;12477932;12359730;20494980 337959 Q52LG2 AB096938;ABBA01057270;AMYH01012189;AP000885;AP001708;BC093934;BC093936;BX104478;CH471079;NM_181621;W72002 AAH93934;AAH93936;BAE46353;EAX09900;NP_853652;Q52LG2 Hs.58152 5492993 UniSTS:483566 KAP13-2 OTTHUMP00000063470;keratin-associated protein 13-2 protein-coding ENSG00000182816 18923 11201 VALIDATED 1349642 KRTAP19-2 keratin associated protein 19-2 21 21 21 q22.1 17042656 17042814 - 30781380 30781538 - 31859509 31859667 - 6480464 12359730 337969 Q3LHN2 AB180041;ABBA01057270;AMYH01012190;AP000567;AP001708;NM_181608 AAI40342;AAI48696;BAE46380;NP_853639;Q3LHN2 Hs.553692 2220494 UniSTS:483567 KAP19.2 OTTHUMP00000155192;keratin-associated protein 19-2 protein-coding 18937 11206 PROVISIONAL 1343476 KRTAP13-4 keratin associated protein 13-4 21 21 21 q22.1 16985741 16986223 + 30724465 30724947 + 31802594 31803076 + 6480464 12359730;12477932;20494980 284827 Q3LI77 AB096941;ABBA01057270;AMYH01012189;AP000567;AP001708;BC131691;NM_181600 AAI31692;BAE46356;NP_853631;Q3LI77 Hs.553677 2219874 KRTAP13-4__6351 KAP13.4 OTTHUMP00000063453;keratin-associated protein 13-4 protein-coding 18926 11203 PROVISIONAL 1352819 KRTAP13-3 keratin associated protein 13-3 21 21 21 q22.1 16980857 16981376 - 30719582 30720101 - 31797711 31798230 - 15489334;12477932;12359730 337960 Q3SY46 AB096940;ABBA01057270;AMYH01012189;AP000567;AP001708;BC103965;NM_181622 AAI03966;BAE46355;NP_853653;Q3SY46 Hs.553687 2220536 UniSTS:484206 KAP13.3;MGC119828 OTTHUMP00000063458;keratin-associated protein 13-3 protein-coding 18925 11202 PROVISIONAL 1344074 KRTAP19-1 keratin associated protein 19-1 21 21 21 q22.1 17035510 17035782 - 30774235 30774507 - 31852364 31852636 - 1580863;6480464 12359730;10830953;12477932 337882 Q8IUB9 AB096943;ABBA01057270;AJ457067;AMYH01012190;AP000567;AP001708;BC126284;BC126286;CH471079;NM_181607 AAI26285;AAI26287;AAI46601;AAI48507;BAE46358;CAD29723;EAX09898;NP_853638;Q8IUB9 Hs.61552 1685770;2126669;2220530 RH93984;UniSTS:484203;UniSTS:494437 KAP19.1 OTTHUMP00000063451;high tyrosine-glycine keratin-associated protein 19.1;keratin-associated protein 19-1 protein-coding 18936 11205 PROVISIONAL 1322358 KRTAP15-1 keratin associated protein 15-1 21 21 21 q22.1 16995793 16996245 + 30734517 30734969 + 31812646 31813098 + 6480464 15489334;12477932;12359730 254950 Q3LI76 AB096942;ABBA01057270;AMYH01012189;AP000567;AP001708;BC104925;BC104927;NM_181623 AAI04926;AAI04928;BAE46357;NP_853654;Q3LI76 Hs.553654 2106533;2220488 KRTAP15-1__6352;UniSTS:483547 KAP15.1 OTTHUMP00000063463;keratin-associated protein 15-1 protein-coding ENSG00000186970 18927 11204 PROVISIONAL 2291778 KRTAP19-8 keratin associated protein 19-8 21 21 21 q22.11 17593449 17593766 - 31332349 31332666 - 32410478 32410795 - 728299 Q3LI54 AB096964;ABBA01057279;AMYH01012193;AP000245;NM_001099219 BAE46379;NP_001092689;Q3LI54 Hs.580875 OTTHUMP00000063466;keratin-associated protein 19-8 protein-coding ENSG00000206102 33898 PROVISIONAL 1603505 KRTAP19-9P keratin associated protein 19-9, pseudogene 21 21 21 q22.1 17065739 17065941 - 30804376 30804778 - 31882605 31882807 - 12359730 337982 ABBA01057270;AMYH01012190;AP000567;NG_002688 KAP19A;KRTAP19P1 APPROVED pseudo 18950 INFERRED 1345436 KRTAP19-3 keratin associated protein 19-3 21 21 21 q22.1 17046933 17047426 - 30785653 30786146 - 31863782 31864275 - 6480464 12359730;12477932 337970 Q7Z4W3 AB096944;ABBA01057270;AF139541;AMYH01012190;AP000567;AP001708;BC126280;BC126282;CH471079;NM_181609 AAI48586;AAI48792;AAP97270;BAE46359;EAX09897;NP_853640;Q7Z4W3 Hs.60480 1673128;1699202;2126685;2220470 RH103181;SHGC-87542;UniSTS:483024;UniSTS:494912 GTRHP;KAP19.3 GTHRP;OTTHUMP00000063462;glycine/tyrosine-rich protein;keratin-associated protein 19-3 protein-coding ENSG00000244025 18938 11207 VALIDATED 1344454 KRTAP19-5 keratin associated protein 19-5 21 21 21 q22.1 17057329 17057547 - 30796061 30796279 - 31874190 31874408 - 6480464 17353931;12359730;12477932;20494980 337972 Q3LI72 AB096946;ABBA01057270;AMYH01012190;AP000567;AP001708;BC100836;BC100837;BC100838;BC100839;BC113020;BC113021;NM_181611 AAI00837;AAI00838;AAI00839;AAI00840;AAI13021;AAI13022;BAE46361;NP_853642;Q3LI72 Hs.553694 2220532 UniSTS:484204 KAP19.5 OTTHUMP00000063457;keratin-associated protein 19-5 protein-coding 18940 11209 PROVISIONAL 1352995 KRTAP2-2 keratin associated protein 2-2 17 17 17 q21.2 35872354 35873172 - 36464618 36465047 - 39210750 39211463 - 6480464 16625196;11279113;11181995 728279 F5H6S0;Q9BYT5 ABBA01031817;AC025904;AC037482;AC100808;AJ302536;AMYH01008386;NM_033032 CAC27564;NP_149021 Hs.650131 KAP2.2 OTTHUMP00000164959;keratin associated protein 2-2;putative keratin-associated protein ENSP00000381495 protein-coding ENSG00000214518 18905 VALIDATED 1353157 KRTAP19-6 keratin associated protein 19-6 21 21 21 q22.1 17096999 17097325 - 30835723 30836052 - 31913854 31914181 - 12477932;12359730 337973 Q3LI70 AB096947;AB096948;ABBA01057270;AMYH01012190;AP000567;AP001708;BC101813;BC101815;NM_181612 AAI01814;AAI01816;AAI56857;BAE46362;BAE46363;NP_853643;Q3LI70 Hs.553695 2220512 UniSTS:483774 KAP19.6 KRTAP19-6-V1;KRTAP19-6-V2;OTTHUMP00000063461;keratin-associated protein 19-6 protein-coding ENSG00000186925 18941 11210 PROVISIONAL 1350262 KRTAP19P4 keratin associated protein 19 pseudogene 4 21 q22.1 30936979 30937313 + 12359730;10830953 337985 Q3LI60 AP001069;AP001708;NG_002672 KAP19D pseudo 18953 1348270 KRTAP2-5P keratin associated protein 2-5, pseudogene 17 17 q21.2 35889913 35890313 + 39228198 39228598 + 11279113 85343 ABBA01031817;AC025904;AC037482;AC100808;AMYH01008386;NG_000939 KAP2A;KRTAP2P1 APPROVED pseudo 18920 INFERRED 1343387 KRTAP17-1 keratin associated protein 17-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36124395 36125158 - 36724695 36725473 - 39471169 39471947 - 1580863;6480464 20379614;18347808;15489334;12477932;11279113 83902 Q9BYP8 ABBA01031811;AC003958;AJ406952;AMYH01008387;BC069078;BC069297;CH471152;NM_031964 AAH69078;AAH69297;AAI46277;AAI46561;CAC27591;EAW60726;NP_114170;Q9BYP8 Hs.307009 2220358;2220464;5493797 UniSTS:480641;UniSTS:482912;UniSTS:494880 KAP17.1;KRTAP16.1;KRTAP17.1 OTTHUMP00000164631;keratin associated protein 16.1;keratin-associated protein 16.1;keratin-associated protein 17-1 APPROVED protein-coding ENSG00000186860 18917 13935 REVIEWED 1347700 KRTAP19-4 keratin associated protein 19-4 21 21 21 q22.1 17052323 17052577 - 30791045 30791299 - 31869174 31869428 - 12359730;15489334;12477932 337971 Q3LI73 AB096945;ABBA01057270;AMYH01012190;AP000567;AP001708;BC117197;BC117199;NM_181610 AAI17198;AAI17200;ADR82788;ADR83449;BAE46360;NP_853641;Q3LI73 Hs.553693 2220544 UniSTS:484294 KAP19.4 OTTHUMP00000063450;keratin-associated protein 19-4 protein-coding ENSG00000186967 18939 11208 PROVISIONAL 2293213 KRTAP20-3 keratin associated protein 20-3 q22.11 100151753 AB096958 BAE46373;Q3LI60 Hs.580878 KAP19D;KAP20.3;KRTAP19P4 protein-coding 34001 2302448 KRTAP20-4 keratin associated protein 20-4 21 21 21 q22.11 17176377 17176600 + 31992946 31993169 + 31992946 31993169 + 10830953 100151643 Q3LI62 ABBA01057274;AMYH01012190;AP001069;AP001708;NR_023342 Hs.580879 KAP20.4 miscrna ENSG00000206105 34002 PROVISIONAL 1351254 KRTAP2-3 keratin associated protein 2-3 17 q21.2 39215492 39216344 - 16625196;11279113;11181995;12477932 730755 P0C7H8;Q9BYR9 ABBA01031817;AC025904;AC037482;AC100808;AMYH01008386;BC012486;BC063625;CH471152;NM_001165252 AAH63625;EAW60702;NP_001158724;P0C7H8 Hs.406714 KAP2.3;KRTAP2.3 Keratin-associated protein 2-3;high sulfur keratin-associated protein 2.4;keratin associated protein 2-3;keratin-associated protein 2.3 protein-coding ENSG00000212724 18906 VALIDATED 1349542 KRTAP21-2 keratin associated protein 21-2 21 21 21 q22.1 17302229 17302480 - 31041140 31041391 - 32119269 32119520 - 6480464 12359730 337978 Q3LI59 AB096959;ABBA01057274;AMYH01012191;AP000243;AP001709;NM_181617 AAI56535;AAI57081;BAE46374;NP_853648;Q3LI59 Hs.553699 2220474 UniSTS:483026 KAP21.2 OTTHUMP00000063452;keratin-associated protein 21-2 protein-coding 18946 11215 PROVISIONAL 2311719 KRTAP21-3 keratin associated protein 21-3 21 21 21 q22.11 17274274 17274526 - 32090901 32091077 - 32090843 32091095 - 100288323 Q3LHN1 AB180042;ABBA01057274;AMYH01012191;AP000243;NM_001164435 BAE46381;NP_001157907;Q3LHN1 Hs.580877 OTTHUMP00000155194;keratin-associated protein 21-3 protein-coding ENSG00000231068 34216 PROVISIONAL 1603502 KRTAP21-4P keratin associated protein 21-4, pseudogene 21 q22.1 32114099 32114932 - 12359730 337986 ABBA01057274;AP000243;NG_002673 KAP21A;KRTAP21P1 APPROVED pseudo 18954 INFERRED 1344432 KRTAP2-1 keratin associated protein 2-1 17 17 17 q21.2 35864397 35865172 - 36456649 36457103 - 39202793 39203568 - 1580863;6480464 12477932;11279113;11181995 81872 F5H1T9;Q9BYU5 ABBA01031817;AC007455;AC037482;AC100808;AJ296345;AMYH01008386;CH471152;NM_001123387 CAC24555;EAW60700;NP_001116859;Q9BYU5 Hs.528921 KAP2.1A;KRTAP2.1A OTTHUMP00000164955;high sulfur keratin-associated protein 2.1;keratin associated protein KRTAP2.1A;keratin-associated protein 2-1;keratin-associated protein 2.1 protein-coding ENSG00000212725 16775 VALIDATED 1346372 KRTAP19-7 keratin associated protein 19-7 21 21 21 q22.1 17116560 17116751 - 30855288 30855479 - 31933417 31933608 - 15489334;12477932;12359730 337974 Q3SYF9 AB096949;ABBA01057270;AMYH01012190;AP001069;AP001708;BC103836;BC103837;BC103838;NM_181614 AAI03837;AAI03838;AAI03839;BAE46364;NP_853645;Q3SYF9 Hs.553696 2220472 UniSTS:483025 KAP19.7;MGC118928 OTTHUMP00000063464;keratin-associated protein 19-7 protein-coding 18942 11211 PROVISIONAL 2311721 KRTAP22-2 keratin associated protein 22-2 21 21 21 q22.11 17145854 17146146 - 31962556 31962693 - 31962424 31962716 - 100288287 Q3LI68 AB096950;ABBA01057273;AMYH01012190;AP001069;NM_001164434 BAE46365;NP_001157906;Q3LI68 Hs.580880 1336067 D21S1239 KAP22.2 OTTHUMP00000068284;keratin-associated protein 22-2 protein-coding ENSG00000206106 37091 VALIDATED 2292073 KRTAP24-1 keratin associated protein 24-1 21 21 21 q22.11 16836766 16838415 - 30575498 30577147 - 31653627 31655276 - 17235325;16939781 643803 Q3LI83 AB096935;ABBA01057268;AM238513;AMYH01012189;AP000884;NM_001085455 BAE46350;CAJ87483;NP_001078924;Q3LI83 Hs.580883 1655338;1735180 D3S2824E;STS-Z28407 KAP24.1 OTTHUMP00000155134;keratin-associated protein 24-1 protein-coding ENSG00000188694 33902 VALIDATED 2293249 KRTAP25-1 keratin associated protein 25-1 21 21 21 q22.11 16844602 16844971 - 30583371 30583679 - 31661463 31661832 - 10830953 100131902 Q3LHN0 AB180043;ABBA01057268;AMYH01012189;AP000884;AP001707;NM_001128598 BAE46382;NP_001122070;Q3LHN0 Hs.580882 KAP25.1 OTTHUMP00000155133;keratin-associated protein 25-1 protein-coding ENSG00000232263 34003 VALIDATED 1343099 KRTAP2-4 keratin associated protein 2-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35883081 35883844 - 36474894 36475657 - 39221368 39222131 - 1580863;6480464 15489334;12477932;11279113;11181995 85294 P0C7H8;Q9BYR9 ABBA01031817;AC025904;AC037482;AC100808;AJ406930;AMYH01008386;BC101147;BC101148;BC101149;CH471152;NM_033184 AAI01148;AAI01149;AAI01150;CAC27569;EAW60703;NP_149440;Q9BYR9 Hs.560502 5492831 UniSTS:482929 KAP2.1B;KAP2.4;KRTAP2.4;MGC119882;MGC119884;MGC119885;MGC74790 OTTHUMP00000164960;high sulfur keratin-associated protein 2.4;keratin associated protein 2.1B;keratin-associated protein 2-4;keratin-associated protein 2.4 APPROVED protein-coding ENSG00000213417 18891 13936 REVIEWED 2292072 KRTAP27-1 keratin associated protein 27-1 21 21 21 q22.11 16892468 16893149 - 30631202 30631883 - 31709331 31710012 - 643812 Q3LI81 AB096937;ABBA01057269;AMYH01012189;AP000885;NM_001077711 BAE46352;NP_001071179;Q3LI81 Hs.580881 OTTHUMP00000065885;keratin-associated protein 27-1 protein-coding ENSG00000206107 33864 PROVISIONAL 5129240 KRTAP29-1 keratin associated protein 29-1 q21.2 16625196 100533177 A8MX34 AC006070;CH471152;NM_001257309 A8MX34;EAW60724;NP_001244238 KAP29.2 Keratin-associated protein 29-1;Keratin-associated protein 29.2;keratin associated protein 29-1 protein-coding 34211 INFERRED 1344445 KRTAP20-1 keratin associated protein 20-1 21 21 21 q22.1 17172204 17172374 + 30910645 30910815 + 31988774 31988944 + 15489334;12477932;12359730 337975 Q3LI63 AB096955;ABBA01057274;AMYH01012190;AP001069;AP001708;BC104846;BC104872;NM_181615 AAI04847;AAI04873;BAE46370;NP_853646;Q3LI63 Hs.553697 2220662 UniSTS:488030 KAP20.1 OTTHUMP00000063473;keratin-associated protein 20-1 protein-coding 18943 11212 PROVISIONAL 1346788 KRTAP21-1 keratin associated protein 21-1 21 21 21 q22.1 17310417 17310656 - 31049328 31049567 - 32127457 32127696 - 15489334;12477932;12359730 337977 Q3LI58;Q3ZCR5 AB096960;ABBA01057274;AMYH01012191;AP000243;AP001709;BC046635;BC105029;BC105031;NM_181619 AAH46635;AAI05030;AAI05032;BAE46375;NP_853650;Q3LI58 Hs.539723;Hs.567837 2220514;5021250 G09810;UniSTS:483775 KAP21.1 OTTHUMP00000063459;keratin-associated protein 21-1 protein-coding 18945 11214 PROVISIONAL 1352336 KRTAP20-2 keratin associated protein 20-2 21 21 21 q22.1 17191013 17191210 + 30929454 30929651 + 32007583 32007780 + 6480464 15489334;12477932;12359730 337976 Q3LI61 AB096957;ABBA01057274;AMYH01012190;AP001069;AP001708;BC111084;NM_181616 AAI11085;BAE46372;NP_853647;Q3LI61 Hs.553698 2220534 UniSTS:484205 KAP20.2;MGC133104 OTTHUMP00000063465;keratin-associated protein 20-2 protein-coding 18944 11213 PROVISIONAL 1347025 KRTAP3-4P keratin associated protein 3-4, pseudogene 17 17 17 q21.2 35822376 35822615 - 36414199 36414638 - 39160772 39161011 - 18077133;11279113;9427749 85345 ABBA01031819;AC007455;AC037482;AMYH01008386;NG_000941 KAP3A;KRTAP3P1 APPROVED pseudo 18919 INFERRED 1354302 KRTAP23-1 keratin associated protein 23-1 21 21 21 q22.1 16903853 16904060 - 30642588 30642795 - 31720717 31720924 - 12359730;12477932 337963 A1A580 ABBA01057269;AMYH01012189;AP000885;AP001708;BC128435;NM_181624 A1A580;AAI28436;NP_853655 Hs.553688 2126677 UniSTS:494642 KAP23.1 OTTHUMP00000214164;keratin-associated protein 23-1 protein-coding ENSG00000186980 18928 11217 PROVISIONAL 1352120 KRTAP22-1 keratin associated protein 22-1 21 21 21 q22.1 17156870 17157016 + 30895311 30895457 + 31973440 31973586 + 15489334;12477932;12359730 337979 Q3MIV0 AB096953;ABBA01057274;AMYH01012190;AP001069;AP001708;BC101682;BC101686;NM_181620 AAI01683;AAI01687;BAE46368;NP_853651;Q3MIV0 Hs.553700 2220496 UniSTS:483568 KAP22.1;MGC126731;MGC126735 OTTHUMP00000063460;keratin-associated protein 22-1 protein-coding 18947 11216 PROVISIONAL 1603240 KRTAP26-1 keratin associated protein 26-1 21 21 21 q22.11 16874587 16875745 - 30613320 30614478 - 31691449 31692607 - 15489334;12477932;17207965;23088713 388818 Q6PEX3 AB096936;ABBA01057269;AM941740;AMYH01012189;AP000885;BC057825;CB996254;HC007104;HC044565;NM_203405 AAH57825;ADQ32499;BAE46351;CAQ03502;CBH19357;CBH30612;NP_981950;Q6PEX3 Hs.28704 1858257;2148645 SHGC-87536;STS-R67568 MGC71787 OTTHUMP00000063449;keratin associated protein;keratin-associated protein 26-1 protein-coding ENSG00000197683 33760 14206 VALIDATED 1354306 KRTAP4-13 keratin associated protein 4-13 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. q12-q21 1580863 11279113 85283 AJ296168 CAC27563 Hs.307022 KAP4.13;KRTAP4.13 protein-coding 18895 1346288 KRTAP3-2 keratin associated protein 3-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35817049 35817742 - 36408971 36409664 - 39155445 39156138 - 1580863;6480464 16189514;15489334;12477932;11279113;23088713 83897 Q9BYR7 ABBA01031819;AC007455;AC037482;AJ406932;AMYH01008386;BC034582;CH471152;NM_031959 AAH34582;ABM83329;ABM86541;CAC27571;EAW60694;NP_114165;Q9BYR7 Hs.307026 KAP3.2;KRTAP3.2 OTTHUMP00000164948;high sulfur keratin-associated protein 3.2;keratin associated protein 3.2;keratin-associated protein 3-2;keratin-associated protein 3.2 APPROVED protein-coding ENSG00000212900 16779 13938 REVIEWED 1346065 KRTAP4-15 keratin associated protein 4-15 17 q12-q21 36549211 36551661 - 1580863 11279113 81871 Q9BYQ5 AC100808;AJ406945;XM_926610;XM_937152 CAC27584;Q9BYQ5;XP_931703;XP_942245 Hs.307014 KAP4.15;KRTAP4.15 protein-coding 16774 1346080 KRTAP4-16P keratin associated protein 4-16, pseudogene 17 17 17 q21.2 35919570 35920477 - 36511180 36512087 - 39257654 39258561 - 11279113 85354 G5E9R7 ABBA01008207;AC025904;AC037482;AC100808;AMYH01008386;NG_005311 KAP4A;KRTAP4P1 APPROVED pseudo 18921 INFERRED 1316737 KRTAP3-3 keratin associated protein 3-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35811286 35811989 - 36403208 36403911 - 39149682 39150385 - 1580863;6480464 15489334;12477932;11279113;17207965;23088713 85293 Q9BYR6 ABBA01031819;AC007455;AC037482;AJ406933;AMYH01008386;BC069099;BC069448;BC093845;BC093847;CH471152;NM_033185 AAH69099;AAH69448;AAH93845;AAH93847;ADQ32922;CAC27572;EAW60693;NP_149441;Q9BYR6 Hs.662759 1761089;2220344;2220640 SHGC-145068;UniSTS:480451;UniSTS:486954 KAP3.3;KRTAP3.3;MGC95374 OTTHUMP00000164957;high sulfur keratin-associated protein 3.3;keratin-associated protein 3-3;keratin-associated protein 3.3 APPROVED protein-coding ENSG00000212899 18890 13939 REVIEWED 1344789 KRTAP4-3 keratin associated protein 4-3 17 17 q21.2 36577009 36577950 - 39323483 39324424 - 1580863;6480464 11279113 85290 Q9BYR4 ABBA01031813;AC006070;AJ406935;AMYH01008386;CH471152;NM_033187 CAC27574;EAW60713;NP_149443;Q9BYR4 Hs.307023 2220386;2220432;2220440;2220522 UniSTS:481046;UniSTS:482101;UniSTS:482170;UniSTS:484076 KAP4.3 OTTHUMP00000165005;keratin-associated protein 4-3;keratin-associated protein 4.3;ultrahigh sulfur keratin-associated protein 4.3 protein-coding ENSG00000196156 18908 VALIDATED 1347393 KRTAP4-4 keratin associated protein 4-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35979610 35980688 - 36569431 36570509 - 39315905 39316983 - 1580863;6480464 15955084;11279113 84616 Q9BYR3 ABBA01031813;AC100808;AJ296168;AJ406936;AMYH01008386;CH471152;NM_032524 AAI56149;AAI56987;CAC27563;CAC27575;EAW60712;NP_115913;Q9BYR3 Hs.307022 2220346;2220404;2220440;5493629 UniSTS:480452;UniSTS:481500;UniSTS:482170;UniSTS:489963 KAP4.13;KAP4.4;KRTAP4-13;KRTAP4.13;KRTAP4.4 OTTHUMP00000164626;keratin associated protein 4-13;keratin associated protein 4.4;keratin-associated protein 4-13;keratin-associated protein 4-4;keratin-associated protein 4.13;keratin-associated protein 4.4;ultrahigh sulfur keratin-associated protein 4.13;ultrahigh sulfur keratin-associated protein 4.4 APPROVED protein-coding ENSG00000171396 16928 13945 REVIEWED 1314968 KRTAP3-1 keratin associated protein 3-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35826379 35826972 - 36418299 36418892 - 39164773 39165366 - 1580863;6480464 15489334;12477932;11279113 83896 Q9BYR8 ABBA01031818;AC007455;AC037482;AJ406931;AMYH01008386;BC113077;BC113078;CH471152;CS300806;NM_031958 AAI13078;AAI13079;CAC27570;CAK32470;EAW60695;EAW60696;NP_114164;Q9BYR8 Hs.307027 2220356;2220462 UniSTS:480630;UniSTS:482911 KAP3.1;KRTAP3.1 OTTHUMP00000164961;high sulfur keratin-associated protein 3.1;keratin-associated protein 3-1;keratin-associated protein 3.1 APPROVED protein-coding ENSG00000212901 16778 13937 REVIEWED 1353828 KRTAP4-6 keratin associated protein 4-6 q12-q21 1580863 85288 AC025904;AJ406938 CAC27577;Q9BYR1 Hs.307014 KAP4.15;KAP4.6;KRTAP4-15 protein-coding 18909 1351130 KRTAP4-5 keratin associated protein 4-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35968892 35969785 - 36558702 36559580 - 39305176 39306054 - 1580863 11279113;20379614 85289 Q9BYR2 ABBA01031813;AC100808;AJ406937;CH471152;NM_033188 AAI60148;CAC27576;EAW60711;NP_149445;Q9BYR2 Hs.514863 2220440;5492577;5492741;5493687 UniSTS:481721;UniSTS:482169;UniSTS:482170;UniSTS:490326 KAP4.5;KRTAP4.5 OTTHUMP00000165004;keratin-associated protein 4-5;keratin-associated protein 4.5;ultrahigh sulfur keratin-associated protein 4.5 APPROVED protein-coding ENSG00000198271 18899 13946 REVIEWED 1349794 KRTAP4-1 keratin associated protein 4-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36003949 36004684 - 36593878 36594673 - 39340352 39341147 - 15955084;15489334;12477932;11279113 85285 Q9BYQ7 ABBA01031813;AC006070;AJ406942;AMYH01008386;BC065372;BC103845;BC103846;CH471152;NM_033060 AAI03846;AAI03847;CAC27581;EAW60715;NP_149049;Q9BYQ7 Hs.437079 2220522 UniSTS:484076 KAP4.1;KAP4.10;KRTAP4-10;KRTAP4.10;MGC118980;MGC118981 keratin associated protein 4-10;keratin-associated protein 4-1;keratin-associated protein 4-10;keratin-associated protein 4.1;keratin-associated protein 4.10;ultrahigh sulfur keratin-associated protein 4.10 APPROVED protein-coding 18907 13940 REVIEWED 1342775 KRTAP4-8 keratin associated protein 4-8 17 17 17 q21.2 35915120 35916293 - 36507305 36507862 - 39253233 39254375 - 1580863 16625196;11279113;11181995 728224 Q9BYQ9 ABBA01008208;AC025904;AC037482;AC100808;AJ406940;AMYH01008386;CH471152;NM_031960;XM_003846479 CAC27579;EAW60705;NP_114166;Q9BYQ9;XP_003846527 Hs.307019 5492725 UniSTS:482143 KAP4.8;KRTAP4.8 OTTHUMP00000164947;keratin associated protein 4.8;keratin-associated protein 4-8;keratin-associated protein 4.8;ultrahigh sulfur keratin-associated protein 4.8 protein-coding ENSG00000204880 17230 INFERRED 1352638 KRTAP5-1 keratin associated protein 5-1 11 11 11 p15.5 1642711 1643652 - 1562148 1563089 - 1605572 1606513 - 16442267;15144888;12234709 387264 Q6L8H4 AB126070;ABBA01012150;AMYH01003310;AP006285;NM_001005922 AAI48863;BAD20197;NP_001005922;Q6L8H4 Hs.632147 1335574;1679061 D11S922;SHGC-3361 KRN1L;KRTAP5.1 OTTHUMP00000063273;keratin, cuticle, ultrahigh sulphur 1-like;keratin, hair cuticle, ultrahigh-sulfur, 1-like;keratin-associated protein 5-1;keratin-associated protein 5.1;ultrahigh sulfur keratin-associated protein 5.1 protein-coding ENSG00000205869 23596 13948 148022 VALIDATED 1347406 KRTAP4-9 keratin associated protein 4-9 17 17 17 q21.2 35923557 35924656 + 36515009 36516266 + 39261641 39262740 + 1580863;6480464 11279113 100132386 Q9BYQ8 AC025904;AC037482;AC100808;AJ406941;AMYH01008386;CH471152;NM_001146041 CAC27580;EAW60707;NP_001139513;Q9BYQ8 Hs.307018 2172787 D17S1191 KAP4.9 OTTHUMP00000164951;keratin-associated protein 4-9;keratin-associated protein 4.9;ultrahigh sulfur keratin-associated protein 4.9 protein-coding ENSG00000212722 18910 VALIDATED 1347351 KRTAP4-11 keratin associated protein 4-11 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009] 17 17 17 q21.2 35935423 35936596 - 36526959 36528132 - 39273433 39274606 - 15955084;15489334;12477932;11279113;11181995 653240 Q9BYQ6 ABBA01008204;AC025904;AC037482;AC100808;AJ406944;AMYH01008386;BC126131;BC130562;CH471152;NM_033059;XM_003960728;XM_003960729;XM_003960730 AAI26132;AAI30563;CAC27583;EAW60708;NP_149048;Q9BYQ6;XP_003960777;XP_003960778;XP_003960779 Hs.307015 5492725;5493447;5494039 UniSTS:480799;UniSTS:482143;UniSTS:486373 KAP4.11;KAP4.14;KRTAP4-14;KRTAP4.14;MGC161409;MGC163434 OTTHUMP00000164952;keratin associated protein 4-14;keratin-associated protein 4-11;keratin-associated protein 4-14;keratin-associated protein 4.11;keratin-associated protein 4.14;ultrahigh sulfur keratin-associated protein 4.14 APPROVED protein-coding ENSG00000212721 18911 REVIEWED 1353361 KRTAP5-13P keratin associated protein 5-13, pseudogene 11 q13.4 71279598 71280047 + 15144888 387275 ABBA01017551;AMYH01003788;AP000867;NG_027924 KRTAP5.P1;KRTAP5P1 APPROVED pseudo 23607 INFERRED 1345328 KRTAP5-14P keratin associated protein 5-14, pseudogene 11 q13.4 71290558 71291027 + 15144888 387276 ABBA01017551;AMYH01003788;AP000867;NG_027925 KRTAP5.P2;KRTAP5P2 APPROVED pseudo 23608 INFERRED 1343990 KRTAP4-12 keratin associated protein 4-12 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35941327 35942403 - 36532869 36533945 - 39279343 39280419 - 1580863 16713569;16189514;15489334;12477932;11279113;23088713 83755 Q495H9;Q9BQ66 ABBA01031814;AC037482;AC100808;AJ406943;AMYH01008386;BC004180;BC004212;BC101159;BC101160;BC101161;BC101162;CH471152;NM_031854 AAH04180;AAH04212;AAI01160;AAI01161;AAI01162;AAI01163;ABM84555;ABW03482;CAC27582;EAW60709;NP_114060;Q9BQ66 Hs.572443 2220440;5493057 UniSTS:482170;UniSTS:484054 KAP4.12;KRTAP4.12 OTTHUMP00000165001;keratin-associated protein 4-12;keratin-associated protein 4.12;ultrahigh sulfur keratin-associated protein 4.12 APPROVED protein-coding ENSG00000213416 16776 13941 REVIEWED 1342991 KRTAP5-3 keratin associated protein 5-3 11 11 11 p15.5 1666231 1667121 - 1585371 1586269 - 1628795 1629693 - 6480464 15144888 387266 Q6L8H2 AB126072;ABBA01012151;AJ628246;AMYH01003310;AMYH01003311;AP006285;AY597812;NM_001012708 AAI48333;AAI48734;AAT09005;BAD20199;CAF31638;NP_001012726;Q6L8H2 Hs.532471 KRTAP5-9;KRTAP5.3 OTTHUMP00000063274;UHS KerB-like;keratin-associated protein 5-3;keratin-associated protein 5-9;keratin-associated protein 5.3;keratin-associated protein 5.9;ultrahigh sulfur keratin-associated protein 5.3 protein-coding ENSG00000196224 23598 12395 VALIDATED 1347838 KRTAP5-4 keratin associated protein 5-4 11 11 11 p15.5 1679609 1680967 - 1598764 1599690 - 1642188 1643368 - 6480464 15144888 387267 A8MUN0;Q6L8H1 AB126073;ABBA01012151;ABBA01012152;AC130310;AMYH01003311;AMYH01003312;AP006285;NM_001012709 AAI46562;AAI48330;BAD20200;NP_001012727;Q6L8H1 Hs.539087 1688542;1689879 RH12555;RH39939 KRTAP5.4 OTTHUMP00000063271;keratin-associated protein 5-4;keratin-associated protein 5.4;ultrahigh sulfur keratin-associated protein 5.4 protein-coding ENSG00000241598 23599 12396 PROVISIONAL 1350812 KRTAP4-14 keratin associated protein 4-14 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. q12-q21 1580863 15489334;12477932;11279113 85282 Q9BYQ6 AC037482;AJ406944;BC126131;BC130562;CH471152;NM_033059 AAI26132;AAI30563;CAC27583;EAW60708;NP_149048;Q9BYQ6 Hs.307015 KAP4.14;KRTAP4.14 protein-coding 18892 13943 1605485 KRTAP5-5 keratin associated protein 5-5 11 11 11 p15.5 1688633 1689712 + 1607609 1608736 + 1651033 1652160 + 6480464 15144888 439915 Q701N2 AB126074;ABBA01012152;AJ628247;AMYH01003312;AP006285;NM_001001480;XM_003846544 BAD20201;CAF31639;NP_001001480;Q701N2;XP_003846592 Hs.653467;Hs.673618 1772689 SHGC-57627 KRTAP5-11;KRTAP5.5 OTTHUMP00000063272;keratin associated protein 5-11;keratin-associated protein 5-11;keratin-associated protein 5-5;keratin-associated protein 5.11;keratin-associated protein 5.5;ultrahigh sulfur keratin-associated protein 5.5 protein-coding ENSG00000185940 23601 VALIDATED 1351402 KRTAP5-10 keratin associated protein 5-10 11 11 11 q13.4 68553063 68577766 + 70954257 70955314 + 71276609 71277666 + 15144888;12477932 387273 A6NC61;Q6L8G5 AB126079;ABBA01017551;AMYH01003787;AMYH01003788;AP000867;BC137550;BC137566;NM_001012710;XM_003846553 AAI37551;AAI37567;BAD20206;NP_001012728;Q6L8G5;XP_003846601 Hs.661887 1688542;1689879;1721131;1742521;1847879;2154767;2159696;2220424 G59550;GDB:197848;KRN1;RH12555;RH18107;RH39939;SHGC-12671;UniSTS:481756 KRTAP5.10 OTTHUMP00000063296;keratin-associated protein 5-10;keratin-associated protein 5.10;ultrahigh sulfur keratin-associated protein 5.10 protein-coding ENSG00000204572 23605 12394 VALIDATED 1605177 KRTAP5-11 keratin associated protein 5-11 11 11 11 q13.4 68592144 68593164 - 70970549 70971569 - 71292901 71293921 - 15144888;12477932 440051 Q6L8G4 AB126080;ABBA01017551;AJ628244;AMYH01003788;AP000867;BC130498;BC130502;NM_001005405 AAI48464;BAD20207;NP_001005405;Q6L8G4 Hs.679617 KRTAP5-5;KRTAP5-6;KRTAP5.11 OTTHUMP00000063297;keratin associated protein 5-5;keratin-associated protein 5-11;keratin-associated protein 5.11;ultrahigh sulfur keratin-associated protein 5.11 protein-coding ENSG00000204571 23606 17248 VALIDATED 1605356 KRTAP5-8 keratin associated protein 5-8 11 11 11 q13.4 68542453 68543635 + 70926719 70927901 + 71249071 71250253 + 6480464 10023043;15144888 57830 O75690 AB126077;ABBA01017551;AJ006692;AMYH01003786;AP000867;AY360461;BX099510;NM_021046 AAI60147;AAQ62965;BAD20204;CAA07188;NP_066384;O75690 Hs.445245 1680982 RH92105 KRTAP5-2;KRTAP5.8;UHSKerB OTTHUMP00000063284;UHS KERB-like protein;UHS KerB;UHS keratin B;keratin, ultra high-sulfur matrix protein B;keratin, ultrahigh sulfur, B;keratin-associated protein 5-8;keratin-associated protein 5.8;ultrahigh sulfur keratin-associated protein 5.8 protein-coding ENSG00000241233 23603 17252 VALIDATED 1352495 KRTAP4-2 keratin associated protein 4-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35997300 35998062 - 36587224 36587986 - 39333698 39334460 - 1580863 15489334;12477932;11279113 85291 Q9BYR5 ABBA01031813;AC006070;AJ406934;AMYH01008386;BC127252;CH471152;NM_033062 AAI27253;CAC27573;EAW60714;NP_149051;Q9BYR5 Hs.380165 2220386;2220432;2220440;5493625 UniSTS:481046;UniSTS:482101;UniSTS:482170;UniSTS:489968 KAP4.2;KRTAP4.2;MGC119940 OTTHUMP00000164636;keratin-associated protein 4-2;keratin-associated protein 4.2;ultrahigh sulfur keratin-associated protein 4.2 APPROVED protein-coding ENSG00000244537 18900 13944 REVIEWED 7245622 KRTAP5-AS1 KRTAP5-1/KRTAP5-2 antisense RNA 1 14702039;16344560 338651 ABBA01012150;ABBA01012151;AK055141;AK057910;AMYH01003310;AP006285;DA040009;DA061271;NR_021489 BAB70862 Hs.633229;Hs.673618 1335574;1679061;1688542;1689879;7185697 D11S922;RH12555;RH39939;SHGC-3361 miscrna ENSG00000233930 27877 VALIDATED 1351556 KRTAP5-2 keratin associated protein 5-2 11 11 11 p15.5 1655845 1656962 - 1574983 1576100 - 1618407 1619524 - 6480464 15144888;12477932 440021 Q701N4 AB126071;ABBA01012151;AJ628245;AP006285;BC132882;BC132908;NM_001004325 AAI32883;AAI32909;AAI46602;AAI56417;BAD20198;CAF31637;NP_001004325;Q701N4 Hs.633229;Hs.673618 KRTAP5-8;KRTAP5.2 OTTHUMP00000230140;keratin-associated protein 5-2;keratin-associated protein 5-8;keratin-associated protein 5.2;keratin-associated protein 5.8;ultrahigh sulfur keratin-associated protein 5.2 protein-coding ENSG00000205867 23597 17249 VALIDATED 1352061 KRTAP4-7 keratin associated protein 4-7 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009] 17 17 17 q21.2 35902179 35903281 + 36493985 36494452 + 39240459 39241396 + 1580863;6480464 16625196;15489334;12477932;11279113;11181995 100132476 Q9BYR0 ABBA01031815;AC100808;AMYH01008386;NM_033061 NP_149050 Hs.632746 2126673 UniSTS:494599 KAP4.7;KRTAP4.7;MGC161699;MGC161701 OTTHUMP00000164949;Ultrahigh sulfur keratin-associated protein 4.7;putative keratin-associated protein 4-X APPROVED protein-coding ENSG00000240871 18898 VALIDATED 1353226 KRTAP6-2 keratin associated protein 6-2 21 21 21 q22.1 17154435 17154623 - 30892876 30893064 - 31971005 31971193 - 6480464 12359730 337967 Q3LI66 AB096952;ABBA01057274;AMYH01012190;AP001069;AP001708;NM_181604 AAI41489;AAI48772;BAE46367;NP_853635;Q3LI66 Hs.553690 2220510 UniSTS:483773 KAP6.2 OTTHUMP00000063471;keratin-associated protein 6-2 protein-coding 18932 11219 VALIDATED 1352307 KRTAP7-1 keratin associated protein 7-1 (gene/pseudogene) 21 21 21 q22.1 17384322 17385016 - 31123228 31123922 - 32201357 32202051 - 1580863;6480464 12359730;10830953 337878 Q8IUC3 AB096962;ABBA01057276;AJ457063;AMYH01012192;AP000244;AP001709;NM_181606 BAE46377;CAD29719;NP_853637;Q8IUC3 Hs.407656 KAP7.1 high tyrosine-glycine keratin-associated protein 7.1;keratin-associated protein 7-1 APPROVED protein-coding 18934 VALIDATED 1603507 KRTAP8-2P keratin associated protein 8-2, pseudogene 21 21 21 q22.1 17357524 17357646 - 31096332 31096654 - 32174561 32174683 - 12359730 337980 ABBA01057274;AMYH01012192;AP000244;NG_002669 1730630;1730634;2169283 D21S307;D21S309;SHGC-51829 KAP8A;KRTAP8P1 APPROVED pseudo 18948 INFERRED 1603506 KRTAP8-3P keratin associated protein 8-3, pseudogene 21 21 21 q22.1 17362273 17362383 - 31101078 31101388 - 32179308 32179418 - 12359730 337981 ABBA01057274;AMYH01012192;AP000244;NG_002670 KAP8B;KRTAP8P2 APPROVED pseudo 18949 INFERRED 1347378 KRTAP9-1 keratin associated protein 9-1 17 17 17 q21.2 36009674 36010454 + 36599665 36600417 + 39346139 39346891 + 6480464 11279113;16625196 728318 A8MXZ3;H7BXR9;H7BYC4 ABBA01031813;AC006070;AMYH01008386;NM_001190460;XM_003846596 A8MXZ3;NP_001177389;XP_003846644 Hs.727478 KAP9.1;KRTAP9L3 OTTHUMP00000165003;Putative keratin-associated protein 9-2-like 3;keratin associated protein 9-like 3;keratin-associated protein 9-1;keratin-associated protein 9-2-like 3-like protein-coding ENSG00000240542 18912 INFERRED 1353696 KRTAP9-11P keratin associated protein 9-11, pseudogene 17 17 q21.2 36680989 36681713 + 39427563 39428087 + 11279113 85347 ABBA01031811;AC006070;NG_000942 KAP9A;KRTAP9P1 APPROVED pseudo 18918 INFERRED 7247192 KRTAP9-12P keratin associated protein 9-12, pseudogene 100287715 ABBA01031813;AC006070;AC213246;AMYH01008386;NG_022467 pseudo 48873 INFERRED 1605180 KRTAP5-6 keratin associated protein 5-6 11 11 11 p15.5 1756626 1757186 + 1675001 1675561 + 1718425 1718985 + 15144888;12477932 440023 Q6L8G9 AB126075;ABBA01012156;AC068580;AMYH01003314;BC130399;BC133035;NM_001012416 AAI30400;AAI33036;BAD20202;NP_001012416;Q6L8G9 Hs.534863 KRTAP5.6 OTTHUMP00000063267;keratin-associated protein 5-6;keratin-associated protein 5.6;ultrahigh sulfur keratin-associated protein 5.6 protein-coding ENSG00000205864 23600 17250 VALIDATED 1605178 KRTAP5-7 keratin associated protein 5-7 11 11 11 q13.4 68531695 68532592 + 70915961 70916858 + 71238313 71239210 + 15144888;12477932 440050 Q6L8G8 AB126076;AJ628243;AMYH01003786;AP000867;BC136967;BC136968;NM_001012503 AAI36968;AAI36969;AAI48791;BAD20203;CAF31636;NP_001012521;Q6L8G8 Hs.710675 KRTAP5-3;KRTAP5.7 OTTHUMP00000063283;keratin-associated protein 5-3;keratin-associated protein 5-7;keratin-associated protein 5.3;keratin-associated protein 5.7;ultrahigh sulfur keratin-associated protein 5.7 protein-coding ENSG00000244411 23602 17251 VALIDATED 1344528 KRTAP6-1 keratin associated protein 6-1 21 21 21 q22.1 17169435 17169653 - 30907876 30908094 - 31986005 31986223 - 6480464 16780588;12477932;12359730 337966 Q3LI64 AB096954;ABBA01057274;AMYH01012190;AP001069;AP001708;BC104426;BC104427;NM_181602 AAI48583;AAI53092;BAE46369;NP_853633;Q3LI64 Hs.194301;Hs.553689 1932676;2220528 REN37170;UniSTS:484202 C21orf103;KAP6.1 OTTHUMP00000063467;keratin-associated protein 6-1 protein-coding 18931 11218 VALIDATED 1353120 KRTAP9-5 keratin associated protein 9-5 17 q12-q21 36663517 36666134 + 1580863 11279113 85279 Q9BYQ1 AC006070;AJ406949;XM_926671;XM_937223 CAC27588;Q9BYQ1;XP_931764;XP_942316 Hs.307010 KAP9.5 protein-coding 18913 1352438 KRTAP9-6 keratin associated protein 9-6 q12-q21 11279113 85278 AC006070 KAP9.6 keratin associated protein 9-6 protein-coding 18914 1349870 KRTAP9-7 keratin associated protein 9-7 17 17 q21.2 36085133 36085657 + 39431950 39432459 + 11279113;16625196 100505724 A8MTY7 ABBA01031811;AC006070;AMYH01008386;AMYH01008387;CH471152;NM_001277332;XM_003118738;XM_003119667;XM_003846483;XM_003960737 A8MTY7;EAW60723;NP_001264261;XP_003118786;XP_003119715;XP_003846531;XP_003960786 KAP9.7;KRTAP9L1 OTTHUMP00000164971;Putative keratin-associated protein 9-2-like 1;keratin associated protein 9-7;keratin associated protein 9-like 1;keratin-associated protein 9-7 protein-coding 18915 INFERRED 1352489 KRTAP6-3 keratin associated protein 6-3 21 21 21 q22.1 17148189 17148804 + 30886630 30887245 + 31964759 31965374 + 6480464 12477932;12359730 337968 Q3LI67 AB096951;ABBA01057273;AMYH01012190;AP001069;AP001708;BC101121;BC101122;BC118547;BC118624;NM_181605 AAI01122;AAI01123;AAI18548;AAI18625;AAI60114;BAE46366;NP_853636;Q3LI67 Hs.553691 2220468 UniSTS:483023 KAP6.3 OTTHUMP00000063468;keratin-associated protein 6-3 protein-coding ENSG00000212938 18933 11220 VALIDATED 1343161 KRTAP9-9 keratin associated protein 9-9 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36075127 36076122 + 36636431 36666142 + 39411636 39412616 + 1580863;6480464 11279113 81870 B5MDD6;Q9BYP9 ABBA01031813;AC006070;AC209539;AC213246;AJ406949;AJ406951;AMYH01008386;NM_030975 CAC27588;CAC27590;NP_112237;Q9BYP9 Hs.722077 1685171;1685662;2220354;2220382;2220436 RH80392;RH98356;UniSTS:480528;UniSTS:480975;UniSTS:482140 KAP9.5;KAP9.9;KRTAP9-5;KRTAP9.9 OTTHUMP00000164969;keratin-associated protein 9-5;keratin-associated protein 9-9;keratin-associated protein 9.5;ultrahigh sulfur keratin-associated protein 9.9 APPROVED protein-coding ENSG00000198083 16773 REVIEWED 1354331 KRTAP8-1 keratin associated protein 8-1 21 21 21 q22.1 17367980 17368535 - 31106886 31107441 - 32185015 32185570 - 1580863;6480464 12477932;12359730;10830953 337879 Q8IUC2 AB096961;ABBA01057274;AJ457064;AMYH01012192;AP000244;BC130397;BC133033;CH471079;NM_175857 AAI30398;AAI33034;BAE46376;CAD29720;EAX09896;NP_787053;Q8IUC2 Hs.407655 KAP8.1 OTTHUMP00000063454;high glycine-tyrosine keratin-associated protein 8.1;keratin-associated protein 8-1 protein-coding ENSG00000183640 18935 11221 VALIDATED 2799203 KRTAP9L2 keratin associated protein 9-like 2 17 q21.2 39421630 39422112 + 16625196 100507608 A8MVA2 AC006070;XM_003118751;XM_003119673;XM_003120364 A8MVA2;XP_003118799;XP_003119721;XP_003120412 KRTAP9-6 Putative keratin-associated protein 9-2-like 2;keratin associated protein 9-like 2;keratin-associated protein 9-2-like 2-like;keratin-associated protein 9-6 protein-coding 37140 MODEL 2800936 KRTAP9L1 keratin associated protein 9-like 1 17 q21.2 36685476 36685985 + 16625196 728341 AC006070;XM_001719339 A8MTY7;XP_001719391 Putative keratin-associated protein 9-2-like 1;keratin associated protein 9-like 1;keratin-associated protein 9-2-like 1-like protein-coding 37139 1603711 KRTAP5-9 keratin associated protein 5-9 11 11 q13.5 70937114 70938301 + 71259466 71260653 + 1703541;16344560;15489334;15144888;12477932;10023043;1724400;17207965 3846 P26371 AB126078;ABBA01017551;AJ006693;AMYH01003786;AP000867;BC069531;BC101744;DB339866;NM_005553;X55293;X63755 AAH69531;AAI01745;ADQ32902;BAD20205;CAA07189;CAA39005;CAA45283;NP_005544;P26371 Hs.709220 1721131;1742521;1847879;2154767;2159696;2220424;5492923 G59550;GDB:197848;KRN1;RH18107;SHGC-12671;UniSTS:481756;UniSTS:483250 KRN1;KRTAP5-1;KRTAP5.9;MGC126793 OTTHUMP00000235550;UHS KerA;UHS keratin A;keratin, cuticle, ultrahigh sulfur 1;keratin, cuticle, ultrahigh sulphur 1;keratin, ultra high-sulfur matrix protein A;keratin-associated protein 5-9;keratin-associated protein 5.9;ultrahigh sulfur keratin-associated protein 5.9 protein-coding ENSG00000254997 23604 01008 148021 VALIDATED 1350529 KRTAP9-2 keratin associated protein 9-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36046440 36047444 + 36636426 36637430 + 39382900 39383904 + 1580863;6480464 17353931;12477932;11279113 83899 I3NI30;Q9BYQ4 ABBA01031813;AC006070;AC209539;AJ406946;AMYH01008386;BC069560;BC110619;BC117287;CH471152;NM_031961 AAH69560;AAI10620;AAI17288;CAC27585;EAW60718;NP_114167;Q9BYQ4 Hs.307013 1685662;2220382;5493109 RH80392;UniSTS:480975;UniSTS:484315 KAP9.2;KRTAP9.2;MGC130013 OTTHUMP00000164973;keratin-associated protein 9-2;keratin-associated protein 9.2;ultrahigh sulfur keratin-associated protein 9.2 APPROVED protein-coding ENSG00000239886 16926 13949 REVIEWED 1318165 KRTCAP2 keratinocyte associated protein 2 1 1 1 q22 128213149 128217068 - 153408508 153412428 - 155141884 155145804 - 737633;1580863;6480464 12477932 16710414;15835887;15489334;14702039;12752121;21832049;22266900 200185 Q8N6L1 ABBA01016714;AK024167;AK311907;AL607067;AMYH01001426;AY157577;BC029806;BC048205;BC057233;BX647396;NM_173852 AAH29806;AAH48205;AAH57233;AAO13161;ABM81719;ABM84874;BAG34848;BAG51267;NP_776251;Q8N6L1 Hs.516671;Hs.704676 1652743;5015961 D15S1477;WI-11760 KCP2 KCP-2;OTTHUMP00000015784;keratinocyte-associated protein 2;keratinocytes associated protein 2 protein-coding ENSG00000163463 28942 17253 VALIDATED 1347666 KRTAP9-3 keratin associated protein 9-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36052255 36053246 + 36642241 36643232 + 39388715 39389706 + 1580863;6480464 17353931;15489334;12477932;11279113;19380743 83900 Q9BYQ3 ABBA01004437;AC006070;AC209539;AJ406947;AMYH01008386;BC074918;BC074919;CH471152;NM_031962 AAH74918;AAH74919;CAC27586;EAW60719;NP_114168;Q9BYQ3 Hs.307012 2220354;5492419 UniSTS:480528;UniSTS:480978 KAP9.3;KRTAP9.3 OTTHUMP00000164625;keratin associated protein 9.3;keratin-associated protein 9-3;keratin-associated protein 9.3;ultrahigh sulfur keratin-associated protein 9.3 APPROVED protein-coding ENSG00000204873 16927 13950 REVIEWED 1352277 KSS Kearns-Sayre syndrome 3894 6466 1346768 KRTAP9-4 keratin associated protein 9-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36069428 36070394 + 36659465 36660431 + 39405939 39406905 + 1580863;6480464 15489334;12477932;11279113 85280 Q9BYQ2 ABBA01031813;AC006070;AC209539;AC213246;AJ406948;AMYH01008386;BC121094;CH471152;NM_033191 AAI21095;CAC27587;EAW60721;NP_149461;Q9BYQ2 Hs.528700 1685171;2220354;2220382;2220436;5493109 RH98356;UniSTS:480528;UniSTS:480975;UniSTS:482140;UniSTS:484315 KAP9.4;KRTAP9.4 OTTHUMP00000164637;keratin-associated protein 9-4;keratin-associated protein 9.4;ultrahigh sulfur keratin-associated protein 9.4 APPROVED protein-coding ENSG00000241595 18902 13951 REVIEWED 1348121 KRTAP9-8 keratin associated protein 9-8 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008] 17 17 q21.2 36647796 36648782 + 39394270 39395256 + 1580863 15489334;12477932;11279113 83901 Q9BYQ0 ABBA01010965;AC006070;AC209539;AJ406950;AMYH01008386;BC074981;BC074982;CH471152;NM_031963;XM_003846482 AAH74981;AAH74982;CAC27589;EAW60720;NP_114169;Q9BYQ0;XP_003846530 Hs.307011 1685171;1685662;2220382;2220436;5492415 RH80392;RH98356;UniSTS:480975;UniSTS:480979;UniSTS:482140 KAP9.8;KRTAP9.8 OTTHUMP00000164970;keratin associated protein 9.8;keratin-associated protein 9-8;keratin-associated protein 9.8;ultrahigh sulfur keratin-associated protein 9.8 APPROVED protein-coding ENSG00000187272 17231 REVIEWED 1353594 KTN1-AS1 KTN1 antisense RNA 1 14 14 14 q22.3 36092210 36096145 - 55035749 55117475 - 56042875 56046810 - 6480464 16344560 100129075 Q86SY8 ABBA01018212;AK124927;AL138499;AL356801;AMYH01005748;BX248296;DA616132;JX046911;NR_027123 CAD62624;Q86SY8 Hs.633724 1731627;1850541;1852138;1858032;2117041;2134674;2159631;2170352;5020948;5022450;5109281;5117897 D10S275;D14S1282;D14S178;D1S1425;G19269;G35473;G35510;G35735;G36085;G36088;GDB:631813;SHGC-34478 C14orf33 APPROVED miscrna ENSG00000186615 19842 VALIDATED 1350027 KWE keratolytic winter erythema (Oudtshoorn skin disease) 7240710 9311742 3896 6468 1342898 KRTCAP3 keratinocyte associated protein 3 2 2 2 p23.3 27511407 27515522 + 27518767 27520668 + 27665233 27669348 + 6480464 15489334;12752121;12477932;16712791;16341674;21906983;23505323 200634 F8WDP6;H7BZ70;Q53RY4 ABBA01045208;AC074117;AMYH01010197;AY157576;AY358993;BC101687;BC101689;BC143574;BM794111;CB160871;CH471053;NM_001168364;NM_173853 AAI01688;AAI01690;AAI43575;AAO13160;AAQ89352;AAY14848;EAX00576;EAX00577;NP_001161836;NP_776252;Q53RY4 Hs.59509 1768936;2136586;5124970 D2S1979;RH47842;RH92034 KCP3;MGC126736;MGC126738;MRV222;PRO9898 KCP-3;OTTHUMP00000123419;OTTHUMP00000200820;keratinocyte-associated protein 3;keratinocytes associated protein 3 protein-coding ENSG00000157992 28943 17254 VALIDATED 1603836 KRTDAP keratinocyte differentiation-associated protein This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 q13.12 32691750 32694878 - 40670068 40673196 - 35978226 35981433 - 6480464 16381901;15489336;15140226;12975309;12477932;11076863;11054531;7566098 388533 P60985 ABBA01018746;AD001502;AI184682;AJ293408;AMYH01009728;AY359007;BC130501;NG_030050;NM_001244847;NM_207392;W95920 AAI30502;AAQ89366;ADR83458;CAL37452;CAL37545;CAL37550;CAL37616;CAL37725;CAL37729;CAL38275;CAL38354;NP_001231776;NP_997275;P60985 Hs.112457 KDAP;MGC163373;UNQ467 KIPV467;OTTHUMP00000208018;keratinocyte differentiation-associated protein APPROVED protein-coding ENSG00000188508 16313 18262 REVIEWED 1603926 KTI12 KTI12 homolog, chromatin associated (S. cerevisiae) 1 1 1 p32.3 50785258 50786954 - 52270365 52272060 - 52497777 52499472 - 6480464 12477932;11929532;21139048;22505724 112970 Q96EK9 ABBA01074781;AF327348;AK313746;AL445685;AMYH01000618;BC012173;BI909162;CH471059;NM_138417 AAH12173;AAL56009;ABM83165;ABM86365;BAG36486;EAX06801;NP_612426;Q96EK9 Hs.476033 1666982;1846930;1846932;1854432 A001V30;A004C17;G07351;G19690 MGC20419;RP11-91A18.3;SBBI81;TOT4 OTTHUMP00000010301;protein KTI12 homolog protein-coding ENSG00000198841 25160 14471 VALIDATED 4889239 KYNUP1 kynureninase pseudogene 1 17 17 p11.2 19006981 19015114 - 19070571 19072541 - 729321 AC007952;AMYH01008205;NG_022445 pseudo 39199 INFERRED 4889240 KYNUP2 kynureninase pseudogene 2 17 17 p11.2 18920996 18933180 + 18986174 18988144 + 729310 ABBA01187317;AC007952;NG_022458 pseudo 39200 INFERRED 4889238 KYNUP3 kynureninase pseudogene 3 17 17 p11.2 19051091 19059217 + 19112346 19114310 + 729323 AC106017;NG_022459 pseudo 39201 INFERRED 1317686 KSR1 kinase suppressor of ras 1 17 17 q11.2 22823163 22974845 + 25799036 25950718 + 2293880;5686410;6480464;6484113;6907045 17726577;22177953 12477932;21555152;14724641;8521512;19188442;18719367;18426801;18332145;17081983;16732322;16625196;15899786;15520853;15489334;12941695;12007434;10764733;21435442;11741534;11940661;12105213;15520859;19718030;20379614;9115393;9858547;20945381;15090600;22752157;21829671;17979178;22939624;23250398;22318606;23128233 8844 A8MY87;F5H0K8;F8WEA9;H7BYU0;J3QKR8;J3QLI1;J3QQK5;J3QQL4;J3QR75;J3QSG8;Q8IVT5 ABBA01015068;ABBA01015069;ABBA01015070;AC015688;AC069366;AK130719;AMYH01008275;BC035488;BC037586;BC042106;BI829205;BX396814;CH471159;NM_014238;U43586 AAC50354;AAH42106;AAI67812;BAC85413;EAW51034;EAW51035;NP_055053;Q8IVT5 Hs.133534 1340911;1690486;1855719;2191545;5024039;5037552 D16S325;D17S1543;D17S696;D8S2279;MARC_26164-26165:1030455897:1;RH65090 KSR;RSU2 OTTHUMP00000162931;kinase suppressor of Ras 1 protein-coding 6465 601132 VALIDATED 1351357 KSR2 kinase suppressor of ras 2 12 12 12 q24.22-q24.23 117521406 118036368 - 116375222 116777724 - 117890817 118406028 - 5686410;6480464 22177953 17599832;16039990;15489334;14702039;12975377;12477932;12471243;21145461;19260141;19563921;20379614;19913121;20628086;21441910;20945381;21403620;22589738;22939624;23472165;22505724 283455 E9PB13;H7BXM9;Q6VAB6 ABBA01020031;ABBA01020032;ABBA01020033;ABBA01020034;ABBA01020035;ABBA01020036;ABBA01020037;ABBA01020038;ABBA01020039;ABBA01020040;ABBA01020041;ABBA01020042;ABBA01020043;ABBA01020044;AC073864;AC079127;AC084291;AC092936;AC127166;AK098831;AMYH01004783;AMYH01004784;AMYH01004785;AMYH01004786;AY345972;BC107106;BC107107;BC127603;BX648958;CH471054;CQ893713;DW009880;DW009881;NM_173598 AAI07107;AAI07108;AAI27604;AAQ24226;BAC05426;CAH68720;EAW98111;EAW98112;NP_775869;Q6VAB6 Hs.375836 1339432;1732598;1736306;1746251;1746751;1746795;1746847;1746849;1749019;1749063;1750575;1759329;1760849;1760963;1763917;1766859;1772889;1782660;2123975;2134363;2161234;2180850;2182358 AFMa184zf5;D12S1246E;D12S1720;D12S1780;D12S1974;D12S810;D8S2109;G17626;G64589;G64753;G64754;G64843;G64860;SHGC-110659;SHGC-110724;SHGC-111879;SHGC-144516;SHGC-144921;SHGC-147582;SHGC-149743;SHGC-151170;SHGC-152266;WI-7483 FLJ25965 OTTHUMP00000239951;hKSR2;kinase suppressor of Ras 2;kinase suppressor of Ras-2 protein-coding ENSG00000171435 18610 13952 610737 VALIDATED 1601969 KXD1 KxDL motif containing 1 19 19 19 p13.11 18570781 18582406 + 18529604 18541188 + 18668572 18680197 + 16189514;14702039;12477932;17207965;16341674;16344560;21159114;22558309;21988832;22554196 79036 M0QX74;M0QXN9;M0QXP3;M0QY77;M0R0B4;M0R228;M0R2G3;Q9BQD3 ABBA01051271;ABBA01051272;AC005253;AF173381;AK091145;AK098346;AK125365;AMYH01009595;BC001080;BC006479;BM781878;BX648739;CH471106;DA542130;DA616317;NM_001171948;NM_001171949;NM_024069 AAC25583;AAH01080;AAH06479;AAQ13622;ADQ32857;EAW84712;EAW84713;EAW84714;NP_001165419;NP_001165420;NP_076974;Q9BQD3 Hs.714548 1660682;5016478;5037552 D8S2279;GDB:434012;WI-13411 C19orf50;DKFZp686B1038;FLJ25480;FLJ43375;KXDL;MGC2749;MST096;MSTP096 UPF0459 protein C19orf50;hypothetical protein LOC79036;kxDL motif-containing protein 1 APPROVED protein-coding ENSG00000105700 28420 14526 615178 VALIDATED 1313421 KY kyphoscoliosis peptidase 3 3 3 q22.2 132744525 132796369 - 135801455 135852554 - 134318765 134369864 - 6480464 20379614;16344560;15385448;14702039;12477932 339855 B4DGA7;Q8NBH2 ABBA01059151;AC016931;AC109912;AF086360;AK090526;AK126993;AK293840;AK294500;AMYH01013514;BC024014;BC037842;BC136349;CH471052;DA212239;DA238247;NM_178554 BAC03471;BAC86780;BAG57718;BAH11610;EAW79131;EAW79132;EAW79133;NP_848649;Q8NBH2 Hs.146730 1696740;1705494;1750087 SHGC-112333;SHGC-77924;SHGC-83837 FLJ33207 OTTHUMP00000216501;OTTHUMP00000216502;OTTHUMP00000216503;kyphoscoliosis peptidase protein-coding 26576 13953 605739 VALIDATED 734173 KYNU kynureninase Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 2 2 q22.2 143351665 143516355 + 143635195 143799885 + 70787;1580863;2290313;2290312;2303721;6480464;6907045 9180257;3400092;6466295;7236232 1939450;11985583;17334708;9291104;6468727;16080802;12477932;8706755;8125298;16712791;17207965;14704851;20379614;20877624;22863883;22939629;18781797;21987572;21890473;22012986;18029348 8942 B8ZZA3;F8WEP1;Q16719 ABBA01028075;ABBA01028076;ABBA01028077;ABBA01028078;ABBA01028079;ABBA01028080;AC013437;AC013444;AK223426;AK290900;AK292095;AK315343;AL548658;AMYH01011143;AMYH01011144;AW290980;AW296221;BC000879;CB151988;CH471058;CR457423;NG_023254;NM_001032998;NM_001199241;NM_003937;U57721 AAC50650;AAH00879;AAX93159;AAY14727;ADQ32345;BAD97146;BAF83589;BAF84784;BAG37742;CAG33704;EAX11599;EAX11600;EAX11601;NP_001028170;NP_001186170;NP_003928;Q16719 Hs.470126 1664441;1754393;2143513;2166564 A004C41;SHGC-132405;SHGC-33569;WI-11702 OTTHUMP00000162647;OTTHUMP00000204304;OTTHUMP00000204305;kynureninase;kynureninase (L-kynurenine hydrolase);l-kynurenine hydrolase APPROVED protein-coding ENSG00000115919 6469 08940 605197 REVIEWED 1343201 KTN1 kinectin 1 (kinesin receptor) This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012] 14 14 q22.1 55116678 55221055 + 56046925 56151302 + 6480464 11058868;7787243;18029348;17081983;17013387;16950774;16890462;16344560;15489334;14743216;14702039;12773547;12508121;12477932;11973345;11689693;11329013;10913441;10850414;10692099;9605849;9535835;8769096;8575822;8039706;7787244;7584028;7584026;11162552;12773565;22863883;22939629;22261722;20936779;19472918;19615732;20379614;21305317;17620599;21139048;21693764;21890473;21906983;17370265;19596686;22184201;15060627;8889548;21111237;22679391 3895 B4DZ88;B7Z6P3;G3V475;G3V4L8;G3V4Y7;G3V5G2;G3V5P0;G3V5Q0;H0YJB7;H0YJP2;H0YJV5;H0YJZ8;Q5GGW3;Q86UP2 ABBA01018214;ABBA01018215;ABBA01018216;AJ270687;AK055870;AK124180;AK125499;AK300703;AK302797;AK308272;AK309840;AL138499;AMYH01005748;AY264265;AY536375;BC050555;BC058736;BC066337;BC104648;BC112337;BC117132;BC143720;BG206718;BM981127;BQ014936;BX537523;BX537639;CH471061;D13629;DA452468;DA769269;L25616;NM_001079521;NM_001079522;NM_001271014;NM_004986;NR_073128;NR_073129;Z22551 AAB65853;AAH50555;AAH58736;AAH66337;AAI04649;AAI12338;AAI17133;AAI43721;AAP20418;AAT66048;BAA02794;BAG51588;BAG54208;BAG64000;BAH13329;CAA80271;EAW80681;EAW80682;EAW80683;EAW80684;EAW80685;NP_001072989;NP_001072990;NP_001257943;NP_004977;Q86UP2 Hs.509414 1657870;1665202;1674822;1753105;2110481;2153757;5095311 G36019;KTN1;KTN1_8432;RH25245;SGC30666;SHGC-68629;WI-11582 CG1;KIAA0004;KNT;MGC133337;MU-RMS-40.19 CG-1 antigen;OTTHUMP00000179009;OTTHUMP00000179010;OTTHUMP00000179011;OTTHUMP00000179012;OTTHUMP00000179013;kinectin;kinesin receptor APPROVED protein-coding ENSG00000126777 6467 02661 600381 REVIEWED 1603640 L1TD1 LINE-1 type transposase domain containing 1 1 1 1 p31.3 60949488 60966989 + 62433084 62450588 + 62660474 62678000 + 6480464 14702039;18842996;15146197;12477932;8889548;15231748;23415968;22162396;21559406;21445976 54596 Q5T7N2 AB211065;ABBA01074607;ABBA01074608;AK001746;AK001973;AL162739;AL834314;AMYH01000666;BC012555;BC060808;BC111559;BQ429140;BU677875;BX382228;CH471059;CN428323;CX166941;CX167172;DR005055;NM_001164835;NM_019079 AAI11560;BAA91878;BAA92011;BAD95492;CAD38984;EAX06590;NP_001158307;NP_061952;Q5T7N2 Hs.685462 1672208;5014051;5015619;5022200;5022588;5037552 D11S3114;D1S2476;D5S1597E;D8S2278;D8S2279;L18426 ECAT11;FLJ10884;MGC133253;RP5-1155K23.3 ES cell-associated protein 11;LINE-1 type transposase domain-containing protein 1;OTTHUMP00000010477 protein-coding ENSG00000240563 25595 07708 VALIDATED 1313918 L3HYPDH L-3-hydroxyproline dehydratase (trans-) 14 14 14 q23.1 39988476 40000143 - 59009159 59020826 - 59939406 59951073 - 6480464 12477932;22939629;20379614;22528483 112849 D6RC46;E9PKK7;Q96EM0 ABBA01018270;AK058165;AL159140;AMYH01005765;BC012131;CH471061;NM_144581 AAH12131;BAB71696;EAW80752;NP_653182;Q96EM0 Hs.729061 1681294 RH98979 C14orf149;FLJ25436 OTTHUMP00000028034;OTTHUMP00000218012;probable proline racemase;proline racemase-like;trans-3-hydroxy-l-proline dehydratase;trans-3-hydroxyl-L-proline dehydratase;trans-L-3-hydroxyproline dehydratase APPROVED protein-coding ENSG00000126790 20488 08065 614811 PROVISIONAL 1314761 L2HGDH L-2-hydroxyglutarate dehydrogenase This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008] 14 14 q21.3 49778902 49848697 - 50709152 50778947 - 6480464;6907045;7240710 16005139;18362286;17876720;16134148;15548604;15489334;15385440;14702039;12477932;8241290;6787330;20052767;20020533;20852250;20727073;20877624;18671189;19911013;18415700;18780161;21625441;21139048 79944 C9JVN9;G3V272;G3V3E2;G3V5A8;G3V5S1;Q9H9P8 ABBA01018131;AK022680;AK292627;AK309294;AL109758;AL359397;AMYH01005723;AY757363;BC006117;CA424871;CH471078;NG_008092;NM_024884 AAH06117;AAV52330;ADZ15391;BAB14174;BAF85316;EAW65725;NP_079160;Q9H9P8 Hs.256034 1768683;2146838;2165719;5022200 G35689;G35769;L18426;RH44101 C14orf160;DURANIN;FLJ12618 2-hydroxyglutarate dehydrogenase;L-2-hydroxyglutarate dehydrogenase, mitochondrial;L-alpha-hydroxyglutarate dehydrogenase;OTTHUMP00000178967;OTTHUMP00000178968;OTTHUMP00000244606;alpha-hydroxyglutarate oxidoreductase;alpha-ketoglutarate reductase;duranin APPROVED protein-coding 20499 12640 236792;609584 REVIEWED 1352608 L1CAM L1 cell adhesion molecule The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013] X X q28 152780581 152794505 - 153126971 153141399 - 1580863;6480464;6483445;6483456;6483012;6483033;6483035;6483075;6483078;6483011;6483044;6483447;6483449;6483061;6483010;6483013;6483029;6483043;6483073;6483067;6483092;6483084;7240710 13678974;16298234;7920659;19995872;17093074;19746433;19565280;17873897;21376041;20162456;16424028;7920660;22349829;22186713;21671795;21395909;20018220;20419098;17640175;18430502 9521424;12957823;12942088;12777533;12725590;12524354;12490317;12477932;12435569;12139915;12070130;11897831;11857550;11770884;11438988;11425011;11393533;11222639;10934197;10871287;10805190;10797421;10611478;10495434;9832558;9832035;9744477;9570805;1769655;19435915;19414364;19401151;19343046;19273627;19260824;19165527;19086053;19018795;18972120;18931829;18847309;18701456;18676824;18555990;18483249;18386459;18332088;18090124;18059459;17952127;17699774;17420921;17328266;17294222;17211730;17081983;16816908;16650578;16650080;16506207;16401420;16400320;16335952;16229685;16020776;16000162;15820228;15790807;15772651;15716380;15609076;15489334;15368500;15148591;15146195;15128735;14718570;14657231;9268105;9479034;9300653;9195224;9118141;8956051;8947027;8929944;8898967;8663493;8592152;8556302;8509458;8401576;7881431;7762552;7595520;7562969;7513709;3136168;2387585;1993895;1932117;1923824;1870106;1627459;1303258;16169070;9837910;15647482;19913121;20628086;20447653;21123622;12082080;20811670;12558975;19617634;19639167;19641926;19661372;19720049;19787228;19920102;21094640;20237819;20501614;20799950;20940017;20501702;20301657;20621658;21271669;21097529;21496863;22764136;21367865;21195665;21318226;21541352;21600041;21685041;22888955;19909241;21195422;21884209;21957033;21860410;22472175;18781797;21985405;21987572;22095073;22222883;21139048;21963094;22246010;22088438;21688291;22307136;22846990;22228447;22948185;19523119;23399902;16344560;22176577;22248567;22305014;22344793;22354677;22370595;22554690;22648184;22677742;22711166;22718627;22904263;22911547;23267165;23212305;22973895;23048039;22796939;22983139;22815787;22859744 3897 E7EMY4;E7EPI4;E7EVM4;E9PHJ4;F5H025;F5H1H0;H0Y5C3;H3BLW5;P32004 AB101921;AB101922;AB101923;AB101924;AB101925;AB101926;AB101927;AB101928;AB101929;AB101930;AB101931;AB101932;AB101933;AB101934;AB101935;AB101936;AB101937;AB101938;AB101939;AB101940;AB101951;AB101952;AB101953;AB101954;AB101955;AB101956;AB101957;AB101958;AB101959;AB101960;AB101961;AB101962;AB101963;AB101964;AB101965;AB101966;AB101967;AB101968;AB101969;AB101970;AB101981;AB101982;AB101983;AB101984;AB101985;AB101986;AB101987;AB101988;AB101989;AB101990;AB101991;AB101992;AB101993;AB101994;AB101995;AB101996;AB101997;AB101998;AB101999;AB102000;AB102011;AB102012;AB102013;AB102014;AB102015;AB102016;AB102017;AB102018;AB102019;AB102020;AB102021;AB102022;AB102023;AB102024;AB102025;AB102026;AB102027;AB102028;AB102029;AB102030;AB102041;AB102042;AB102043;AB102044;AB102045;AB102046;AB102047;AB102048;AB102049;AB102050;AB102051;AB102052;AB102053;AB102054;AB102055;AB102056;AB102057;AB102058;AB102059;AB102060;AB102071;AB102072;AB102073;AB102074;AB102075;AB102076;AB102077;AB102078;AB102079;AB102080;AB102081;AB102082;AB102083;AB102084;AB102085;AB102086;AB102087;AB102088;AB102089;AB102090;AB102101;AB102102;AB102103;AB102104;AB102105;AB102106;AB102107;AB102108;AB102109;AB102110;AB102111;AB102112;AB102113;AB102114;AB102115;AB102116;AB102117;AB102118;AB102119;AB102120;AB102653;ABBA01045346;ABBA01045347;AI361399;AK289754;AMYH01023302;AMYH01023303;AY167680;AY167681;AY167682;AY167683;AY167684;AY167685;AY167686;AY167687;AY167688;AY167689;AY167690;AY167691;AY167692;AY167693;AY167694;AY167695;AY167696;AY167697;AY167698;AY167699;AY167700;AY167701;AY167702;AY167703;AY167704;AY167705;AY167706;AY167707;AY167708;AY167709;AY167710;AY167711;AY167712;AY167713;AY167714;AY167715;AY167716;AY167717;AY167718;AY167719;AY167720;AY167721;AY167722;AY167723;AY167724;AY167725;AY167726;AY927629;BC025843;BC126229;BC136447;CH471172;DA122729;DQ173589;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173597;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;EF506611;HY119527;M55271;M74387;M77640;NG_009645;NM_000425;NM_001143963;NM_001278116;NM_024003;U52111;U52112;X58775;X58776;X59847;X67912;Z29373 AAA36353;AAA59476;AAC14352;AAH25843;AAI26230;AAI36448;AAO17583;AAO17584;AAO17585;AAO17586;AAO17587;AAO17588;AAO17589;AAO17590;AAO17591;AAO17592;AAO17593;AAO17594;AAO17595;AAO17596;AAO17597;AAO17598;AAO17599;AAO17600;AAO17601;AAO17602;AAO17603;AAO17604;AAO17605;AAO17606;AAO17607;AAO17608;AAO17609;AAO17610;AAO17611;AAO17612;AAO17613;AAO17614;AAO17615;AAO17616;AAO17617;AAO17618;AAO17619;AAO17620;AAO17621;AAO17622;AAO17623;AAO17624;AAO17625;AAO17626;AAO17627;AAO17628;AAO17629;ABB58724;ABC25730;ABC25735;ABC25740;ABC25745;ABC25750;ABC25755;ABC25759;ABC25764;ABC25769;ABC25774;ABC25779;ABC25784;ABC25789;ABC25794;ABC25799;ABC25804;ABC25809;ABC25814;ABC25819;ABC25824;ABC25829;ABC25834;ABC25839;ABC25844;ABC25849;ABC25854;ABC25859;ABC25864;ABC25869;ABC25874;ABC25879;ABC25884;ABC25889;ABC25894;ABC25899;ABC25904;ABC25909;ABC25914;ABC25919;ABC25924;ABC25929;ABC25934;ABC25939;ABC25944;ABC25949;ABC25954;ABC25959;ABC25964;ABC25969;ABC25974;ABC25979;ABP88252;BAC80480;BAC80481;BAC80482;BAC80483;BAC80484;BAC80485;BAC80486;BAC80487;BAC80488;BAC80489;BAC80490;BAC80491;BAC80492;BAC80493;BAC80494;BAC80495;BAC80496;BAC80497;BAC80498;BAC80499;BAC80510;BAC80511;BAC80512;BAC80513;BAC80514;BAC80515;BAC80516;BAC80517;BAC80518;BAC80519;BAC80520;BAC80521;BAC80522;BAC80523;BAC80524;BAC80525;BAC80526;BAC80527;BAC80528;BAC80529;BAC80540;BAC80541;BAC80542;BAC80543;BAC80544;BAC80545;BAC80546;BAC80547;BAC80548;BAC80549;BAC80550;BAC80551;BAC80552;BAC80553;BAC80554;BAC80555;BAC80556;BAC80557;BAC80558;BAC80559;BAC80570;BAC80571;BAC80572;BAC80573;BAC80574;BAC80575;BAC80576;BAC80577;BAC80578;BAC80579;BAC80580;BAC80581;BAC80582;BAC80583;BAC80584;BAC80585;BAC80586;BAC80587;BAC80588;BAC80589;BAC80600;BAC80601;BAC80602;BAC80603;BAC80604;BAC80605;BAC80606;BAC80607;BAC80608;BAC80609;BAC80610;BAC80611;BAC80612;BAC80613;BAC80614;BAC80615;BAC80616;BAC80617;BAC80618;BAC80619;BAC80630;BAC80631;BAC80632;BAC80633;BAC80634;BAC80635;BAC80636;BAC80637;BAC80638;BAC80639;BAC80640;BAC80641;BAC80642;BAC80643;BAC80644;BAC80645;BAC80646;BAC80647;BAC80648;BAC80649;BAC80660;BAC80661;BAC80662;BAC80663;BAC80664;BAC80665;BAC80666;BAC80667;BAC80668;BAC80669;BAC80670;BAC80671;BAC80672;BAC80673;BAC80674;BAC80675;BAC80676;BAC80677;BAC80678;BAC80679;BAC81122;BAF82443;CAA41576;CAA42508;CAA82564;CAB37831;EAW72787;EAW72788;EAW72789;NP_000416;NP_001137435;NP_001265045;NP_076493;P32004 Hs.522818 1677646;1697598;1702116;1745481;1745483;1745485;1745487;1745489;1745491;1745493;1745495;1745497;1745499;1745501;1745503;1745505;1745507;1745509;1745511;1745513;1745515;1745517;1745519;1745521;1745523;1745525;1745527;1745529;1745531;1798536;1798768;1798872;1800454;1800648;1801248;1801368;1802534;1802794;1802848;1802906;1803970;1804822;1805934;1821048;1825200;1825668;1848234;2033816;2033818;2033820;2033822;2033824;2033826;2033828;2033830;2033832;2033834;2033836;2033838;2033840;2033842;2033844;2033846;2033848;2033850;2033852;2033854;2033856;2033858;2033860;2033862;2033864;2033866;2033868;2033870;2033872;2033874;2033876;2033878;2033880;2033882;2033884;2033886;2033888;2033890;2033892;2033894;2033896;2033898;2033900;2033902;2033904;2033906;2033908;2033910;2033912;2033914;2033916;2033918;2033920;2033922;2033924;2033926;2033928;2033930;2033932;2033934;2033936;2033938;2033940;2033942;2033944;2033946;2033948;2033950;2033952;2033954;2033956;2033958;2033960;2102056;2102058;2102060;2102062;2102064;2102066;2102068;2102070;2102072 ECD00106;ECD00224;ECD00276;ECD01087;ECD01185;ECD01496;ECD01556;ECD02153;ECD02284;ECD02312;ECD02342;ECD02899;ECD03345;ECD03920;ECD11601;ECD13701;ECD13942;GDB:381859;GDB:618098;GDB:618230;GDB:618289;GDB:618293;GDB:618341;GDB:618400;GDB:618484;GDB:618487;GDB:618831;GDB:618836;GDB:618839;GDB:618842;GDB:618846;GDB:618849;GDB:618851;GDB:618866;GDB:619117;GDB:619157;GDB:619161;GDB:623452;GDB:623456;GDB:623463;GDB:623467;GDB:623470;GDB:623474;GDB:623477;REN87917;REN87918;REN87919;REN87920;REN87921;REN87922;REN87923;REN87924;REN87925;REN87926;REN87927;REN87928;REN87929;REN87930;REN87931;REN87932;REN87933;REN87934;REN87935;REN87936;REN87937;REN87938;REN87939;REN87940;REN87941;REN87942;REN87943;REN87944;REN87945;REN87946;REN87947;REN87948;REN87949;REN87950;REN87951;REN87952;REN87953;REN87954;REN87955;REN87956;REN87957;REN87958;REN87959;REN87960;REN87961;REN87962;REN87963;REN87964;REN87965;REN87966;REN87967;REN87968;REN87969;REN87970;REN87971;REN87972;REN87973;REN87974;REN87975;REN87976;REN87977;REN87978;REN87979;REN87980;REN87981;REN87982;REN87983;REN87984;REN87985;REN87986;REN87987;REN87988;REN87989;RH102310;RH80837;STS-M74387;stSG603648;stSG603649;stSG603650;stSG603651;stSG603652;stSG603653;stSG603655;stSG603656;stSG603657 CAML1;CD171;HSAS;HSAS1;MASA;MIC5;N-CAM-L1;N-CAML1;NCAM-L1;S10;SPG1 N-CAM-L1;NCAM-L1;OTTHUMP00000025992;OTTHUMP00000025993;OTTHUMP00000063091;antigen identified by monoclonal antibody R1;neural cell adhesion molecule L1 APPROVED protein-coding ENSG00000198910 6470 02394 303350;304100;307000;308840 REVIEWED 1353313 L3MBTL4 l(3)mbt-like 4 (Drosophila) 18 18 18 p11.31 5840619 6300202 - 5944705 6404910 - 5954705 6414910 - 737633;1580863;6480464 12477932 8889548;2444974;14702039;19913121;20628086;20379614;20698951;20694011;21832049 91133 F5H508;F8W9S8;J3KRN7;J3KS41;J3QLK8;Q8NA19 ABBA01049887;ABBA01049888;ABBA01049889;ABBA01049890;ABBA01049891;ABBA01049892;ABBA01049893;ABBA01049894;ABBA01049895;AK026733;AK091075;AK093255;AMYH01008789;AP000874;AP001021;AP005060;AP005228;BC039316;CA313345;CH471113;DB455331;NM_173464 AAH39316;BAC04111;BAG52277;EAX01639;EAX01640;NP_775735;Q8NA19 Hs.128279 1299911;1647840;1649455;1658306;1659903;1670415;1704028;1704496;1706038;1734576;1754893;1858564;2138841;2146226;2148024;2153763;2165964;2168612;2176417;5037552;5093768;5094755 A004U39;A006W22;A009W18;AFM238YG3;AGAT060;D18S471;D18S936E;D18S981;D8S2279;G18042;G31015;G32912;L18017;RH16507;RH36215;SHGC-141820;SHGC-2285;SHGC-34628;SHGC-77812;SHGC-78662;SHGC-83006;WI-14891 HsT1031 H-l(3)mbt-like protein 4;OTTHUMP00000162321;OTTHUMP00000162322;OTTHUMP00000162323;l(3)mbt-like protein 4;lethal(3)malignant brain tumor-like protein 4 protein-coding ENSG00000154655 26677 08198 VALIDATED 1344736 L3MBTL1 l(3)mbt-like 1 (Drosophila) This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 20 20 q13.12 41576467 41603949 + 42136320 42170535 + 1580863;6480464 12842041;11780052;17540172;18408754;18042461;18026117;15489334;15334543;15123827;12588862;12477932;11549316;10737800;10445843;9734811;15566354;18474616;16344560;8889548;19144645;20585043;20870725;15790807;21149733;21341991;22120668;21837478 26013 B0QYN4;B0QYN5;E7ETY8;H0Y7I2;Q9UG06 AB014581;ABBA01052617;ABBA01052618;ABBA01052619;AK123176;AK299199;AK308334;AK310345;AL031681;AL110279;AMYH01011925;BC034398;BC039820;BG956397;BI040370;BU741824;CH471077;DA204976;DR003568;NG_009238;NM_015478;NM_032107;R42592;Z98752 AAH39820;ABZ92019;BAA31656;BAC85548;BAG61241;CAB53714;EAW75957;EAW75958;EAW75959;EAW75960;EAW75961;EAW75962;NP_056293;NP_115479;Q9Y468 Hs.709356;Hs.736988 1662978;1663505;1721621;1767244;1772097;1856460;2219886;5020948 D20S1121;D20S721;G35510;G59821;L3MBTL__6365;RH69623;SHGC-24255;Z94467 DKFZp586P1522;FLJ41181;H-L(3)MBT;KIAA0681;L3MBTL;ZC2HC3;dJ138B7.3 OTTHUMP00000031022;OTTHUMP00000031024;OTTHUMP00000031026;OTTHUMP00000197636;l(3)mbt protein homolog;lethal (3) malignant brain tumor l(3);lethal(3)malignant brain tumor-like protein;lethal(3)malignant brain tumor-like protein 1 APPROVED protein-coding ENSG00000185513 15905 16387 608802 REVIEWED 1318418 L3MBTL2 l(3)mbt-like 2 (Drosophila) 22 22 22 q13.31-q13.33 25407662 25433655 + 39931259 39957221 + 41601313 41627275 + 1580863;6480464 18029348;19233876;16381901;16189514;15489336;15489334;15461802;14702039;12477932;12004135;11682070;11230166;11076863;10591208;11256614;17540172;19241375;20385135;21596310;20360068;19471022;21549307;21693764;22325352 83746 F8WBL1;H0Y5M2;H7C228;Q969R5 ABBA01055624;ABBA01055625;ABBA01055626;AJ305226;AJ305227;AK056443;AK074091;AK097052;AK307763;AL035658;AL035681;AL136564;AMYH01012799;AMYH01012800;BC017191;BU184979;CH471095;CR456482;NM_031488 AAH17191;ABM83238;ABM86438;BAB84917;BAC04936;BAG51710;CAB66499;CAC37794;CAC37795;CAG30368;CAK54463;CAK54762;CAL37685;CAL38517;EAW60410;EAW60411;EAW60412;EAW60413;EAW60414;EAW60415;EAW60416;NP_113676;Q969R5 Hs.517641 1694778;1847627;2189455;5016596;7186361 D22S1539;G43605;GDB:631802;MARC_6537-6538:992007286:1 H-l(3)mbt-l;L3MBT H-l(3)mbt-like protein 2;L(3)mbt-like protein 2;OTTHUMP00000198763;OTTHUMP00000198764;lethal(3)malignant brain tumor-like protein 2 protein-coding ENSG00000100395 18594 13954 611865 VALIDATED 3077861 LACTBL1 lactamase, beta-like 1 1 1 1 p36.12 21601685 21611819 - 23152123 23172111 - 23279536 23299524 - 16710414 646262 A8MY62;H0Y608 ABBA01059859;AL035704;AMYH01000355;XM_003846221;XM_003846622;XM_003960118 A8MY62;XP_003846269;XP_003846670;XP_003960167 1781546 SHGC-144018 OTTHUMP00000203816;Putative beta-lactamase-like protein ENSP00000383859;beta-lactamase-like protein ENSP00000383859-like;lactamase, beta-like 1;putative beta-lactamase-like 1 protein-coding ENSG00000215906 35445 MODEL 1313522 L3MBTL3 l(3)mbt-like 3 (Drosophila) 6 6 6 q23 131086140 131209005 + 130381427 130504278 + 130339728 130462594 + 6480464 18391951;17081983;15889154;15489334;14702039;14574404;12477932;11347906;16344560;20211142;21890473;21906983;20881960;19001729 84456 E9PI01;E9PLL7;Q96JM7 AB058701;ABBA01025901;ABBA01025902;ABBA01025903;ABBA01025904;AI123736;AK092756;AK094137;AK290219;AL355581;AL356579;AL583846;AMYH01016668;AMYH01016669;AMYH01016670;AMYH01016671;BC060845;CF529850;CH471051;DA927626;DB059438;NM_001007102;NM_032438 AAH60845;ABZ92070;ADR82676;BAB47427;BAF82908;EAW48073;EAW48074;NP_001007103;NP_115814;Q96JM7 Hs.658051 1689666;1707202;1756183;2107261;2149844 L3MBTL3__7423;RH98682;SHGC-143035;SHGC-79187;STS-N22856 MBT-1;MBT1;RP11-73O6.1 H-l(3)mbt-like protein 3;OTTHUMP00000017192;OTTHUMP00000233102;OTTHUMP00000233145;OTTHUMP00000233146;OTTHUMP00000233147;l(3)mbt-like protein 3;lethal(3)malignant brain tumor-like protein 3 protein-coding ENSG00000198945 23035 11222 VALIDATED 1602651 LACC1 laccase (multicopper oxidoreductase) domain containing 1 13 13 13 q14.11 25509562 25524213 + 43351969 43364438 + 44453420 44468068 + 6480464 16740638;19068216;16344560;14702039;12477932;15489334;21102463;17207965;18587394;19834535;20018961;20473688;19760754;22504414;23128233 144811 A2A3Z5;Q7Z395;Q8IV20 ABBA01021238;AK096044;AL512506;AMYH01005080;BC035749;BX503941;BX538036;CH471075;DA332005;DR001026;NM_001128303;NM_153218 AAH35749;ADQ31766;BAC04686;CAD97980;EAX08701;NP_001121775;NP_694950;Q8IV20 Hs.210586 C13orf31;DKFZp686D11119;FLJ38725;RP11-5G9.2 OTTHUMP00000178593;hypothetical protein LOC144811;laccase domain-containing protein 1 APPROVED protein-coding ENSG00000179630 26789 08793 613409 VALIDATED 1317324 LACTB2 lactamase, beta 2 8 8 8 q13.3 67547128 67579082 - 71712045 71743946 - 71549501 71581447 - 6480464 12477932;10810093;20877624;8125298;22939629;21139048;21906983 51110 Q53H82 ABBA01041941;ABBA01041942;AC022731;AF151841;AK222699;AK290201;AMYH01018782;AMYH01018783;BC000878;BC008505;CH471068;DB445101;NM_016027 AAD34078;AAH00878;ACE86632;ACE87314;BAD96419;BAF82890;EAW86969;EAW86970;NP_057111;Q53H82 Hs.118554 1646258;1786584;5016883 RH98763;SHGC-141879;SHGC-31052 CGI-83 OTTHUMP00000226691;OTTHUMP00000226692;beta-lactamase-like protein 2 protein-coding ENSG00000147592 18512 13955 VALIDATED 1344511 LACRT lacritin The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. [provided by RefSeq, Jul 2008] 12 12 q13 53310890 53314930 - 55024623 55028663 - 6480464 20375347;16982797;16923831;16865190;16740002;16488965;15952718;15851553;15489334;14574570;12613904;12477932;11419941;17850790;18334948;18840430;19714880;19770725;17207965;21832049;22118674;21139048;23422824;23504321;22736608;22871838;22918641;22956620;23272196;23308132;23425695;23482462;23640897;23748026;23769845 90070 F8W0V3;H0YI00;Q9GZZ8 ABBA01008377;AC079310;AF238867;AMYH01004489;AY005150;BC062217;BC069317;CH471054;CS072263;NM_033277 AAG32949;AAG44392;AAH62217;AAH69317;ADQ32912;CAI93401;EAW96793;NP_150593;Q9GZZ8 Hs.307096 MGC71934 OTTHUMP00000242493;OTTHUMP00000242494;extracellular glycoprotein lacritin APPROVED protein-coding ENSG00000135413 16430 06302 607360 REVIEWED 1349497 LACE1 lactation elevated 1 This gene encodes a protein with possible ATPase function. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. [provided by RefSeq, Jul 2008] 6 6 6 q22.1 109362234 109590401 + 108722791 108950951 + 108616098 108844258 + 6480464 18237552;12477932;12079282;19913121;20628086;20379614;20877624;20872768;23251661 246269 A6ZJA2;F8WET8;H0Y5F4;H7C448;Q8WV93 ABBA01026145;ABBA01026146;ABBA01026147;ABBA01026148;ABBA01026149;ABBA01026150;AF520418;AL139106;AL162721;AL353706;AL356121;AL832793;AMYH01016578;AMYH01016579;BC018445;CH471051;NM_145315;Z98742 AAH18445;AAM74228;ADZ16107;EAW48375;EAW48376;EAW48377;NP_660358;Q8WV93 Hs.259666 1715527;1767591;1798896;1799164;1799478;1800072;1801302;1802764;1805086;1805440;1805990;1807674;1807802;1808416;1808564;1811050;1811996;1812338;1812846;1812848;1813932;1814400;1814596;1816354;1817532;1817784;1818266;1818852;1818914;1819492;1819954;1821300;1821372;1821628;1823306;1823986;1824688;1824926;1825100;1825494;1826296;1826838;1827632;1827706;1827944;1829192;1829424;1829664;1830166;1830972;1832450;1832654;1832698;1832938;1833662;1833900;1834026;1835182;1835402;1835832;1836118;1836610;1837172;1837436;1837792;1837842;1837898;1837938;1838124;1838858;1838998;1839190;1839290;1839758;1839984;1840040;1840042;1840498;1841800;1841954;1842174;1842304;1842374;1842438;1843442;1843510;1843780;1844792;1845682;1845684;1846328;1958714;1958716;1958718;1958720;1958722;1958724;1958726;1958728;1958730;1958732;1958734;1958736;1958738;1958740;1958742;1958744;1958746;1958748;1958750;1958752;1958754;1958756;1958758;1958760;1958762;1958764;1958766;1958768;1958770;1958772;1958774;1958776;1958778;1958780;1958782;1958784;1958786;1958788;1958790;1958792;1958794;1958796;1958798;1958800;1958802;1958804;1958806;1958808;1958810;1958812;1958814;1958816;1958818;1958820;1958822;1958824;1958826;1958828;1958830;1958832;1958834;1958836;1958838;1958840;1958842;1958844;1958846;1958848;1958850;1958852;1958854;1958856;1958858;1958860;1958862;1958864;1958866;1958868;1958870;1958872;1958874;1958876;1958878;1958880;1958882;1958884;1958886;1958888;1958890;1958892;1958894;1958896;1958898;1958900;1958902;1958904;1958906;1958908;1958910;1958912;1958914;1958916;1958918;1958920;1958922;1958924;1958926;1958928;1958930;1958932;1958934;1958936;1958938;1958940;1958942;1958944;1958946;1958948;1958950;1958952;1958954;1958956;1958958;1958960;1958962;1958964;1958966;1958968;1958970;1958972;1958974;1958976;1958978;1958980;1958982;1958984;1958986;1958988;1958990;1958992;1958994;1958996;1958998;1959000;1959002;1959004;1959006;1959008;1959010;1959012;1959014;1959016;1959018;1959020;1959022;1959024;1959026;1959028;1959030;1959032;1959034;1959036;1959038;1959040;1959042;1959044;1959046;1959048;1959050;1959052;1959054;1959056;1959058;1959060;1959062;1959064;1959066;1959068;1959070;1959072;1959074;1959076;1959078;1959080;1959082;1959084;1959086;1959088;1959090;1959092;1959094;1959096;1959098;1959100;1959102;1959104;1959106;1959108;1959110;1959112;1959114;1959116;1959118;1959120;1959122;1959124;1959126;1959128;1959130;1959132;1959134;1959136;1959138;1959140;1959142;1959144;1959146;1959148;1959150;1959152;1959154;1959156;1959158;1959160;1959162;1959164;1959166;1959168;1959170;1959172;1959174;1959176;1959178;1959180;1959182;1959184;1959186;1959188;1959190;1959192;1959194;1959196;1959198;1959200;1959202;1959204;1959206;1959208;1959210;1959212;1959214;1959216;1959218;1959220;1959222;1959224;1959226;1959228;1959230;1959232;1959234;1959236;1959238;1959240;1959242;1959244;1959246;1959248;1959250;1959252;1959254;1959256;1959258;1959260;1959262;1959264;1959266;1959268;1959270;1959272;1959274;1959276;1959278;1959280;1959282;1959284;1959286;1959288;1959290;1959292;1959294;1959296;1959298;1959300;1959302;1959304;1959306;1959308;1959310;1959312;1959314;1959316;1959318;1959320;1959322;1959324;1959326;1959328;1959330;1959332;1959334;1959336;1959338;1959340;1959342;1959344;1959346;1959348;1959350;1959352;1959354;1959356;1959358;1959360;1959362;1959364;1959366;1959368;1959370;1959372;1959374;1959376;1959378;1959380;1959382;1959384;1959386;1959388;1959390;1959392;1959394;1959396;1959398;1959400;1959402;1959404;1959406;1959408;1959410;1959412;1959414;1959416;1959418;1959420;1959422;1959424;1959426;1959428;1959430;1959432;1959434;1959436;1959438;1959440;1959442;1959444;1959446;1959448;1959450;1959452;1959454;1959456;1959458;1959460;1959462;1959464;1959466;1959468;1959470;1959472;1959474;1959476;1959478;1959480;1959482;1959484;1959486;1959488;1959490;1959492;1959494;1959496;1959498;1959500;1959502;1959504;1959506;1959508;1959510;1959512;1959514;1959516;1959518;1959520;1959522;1959524;1959526;1959528;1959530;1959532;1959534;1959536;1959538;1959540;1959542;1959544;1959546;1959548;1959550;1959552;1959554;1959556;1959558;1959560;1959562;1959564;1959566;1959568;1959570;1959572;1959574;1959576;1959578;1959580;1959582;1959584;1959586;1959588;1959590;1959592;1959594;1959596;1959598;1959600;1959602;1959604;1959606;1959608;1959610;1959612;1959614;1959616;1959618;1959620;1959622;1959624;1959626;1959628;1959630;1959632;1959634;1959636;1959638;1959640;1959642;1959644;1959646;1959648;1959650;1959652;1959654;1959656;1959658;1959660;1959662;1959664;1959666;1959668;1959670;1959672;1959674;1959676;1959678;1959680;1959682;1959684;1959686;1959688;1959690;1959692;1959694;1959696;1959698;1959700;1959702;1959704;1959706;1959708;1959710;1959712;1959714;1959716;1959718;1959720;1959722;1959724;1959726;1959728;1959730;1959732;1959734;1959736;1959738;1959740;1959742;1959744;1959746;1959748;1959750;1959752;1959754;1959756;1959758;1959760;1959762;1959764;1959766;1959768;1959770;1959772;1959774;1959776;1959778;1959780;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D12S1054;ECD00289;ECD00428;ECD00590;ECD00891;ECD01523;ECD02269;ECD03485;ECD03667;ECD03948;ECD04809;ECD04876;ECD05189;ECD05264;ECD06523;ECD07003;ECD07176;ECD07436;ECD07437;ECD07993;ECD08229;ECD08328;ECD09219;ECD09816;ECD09946;ECD10190;ECD10490;ECD10521;ECD10813;ECD11048;ECD11730;ECD11770;ECD11900;ECD12742;ECD13089;ECD13442;ECD13562;ECD13651;ECD13855;ECD14261;ECD14534;ECD14936;ECD14974;ECD15095;ECD15723;ECD15843;ECD15964;ECD16216;ECD16622;ECD17364;ECD17468;ECD17490;ECD17610;ECD17976;ECD18096;ECD18161;ECD18746;ECD18856;ECD19077;ECD19220;ECD19469;ECD19752;ECD19885;ECD20066;ECD20091;ECD20119;ECD20140;ECD20234;ECD20608;ECD20678;ECD20775;ECD20825;ECD21062;ECD21176;ECD21204;ECD21205;ECD21436;ECD22099;ECD22180;ECD22290;ECD22355;ECD22390;ECD22422;ECD22930;ECD22964;ECD23101;ECD23612;ECD24059;ECD24060;ECD24384;GDB:335751;REN50224;REN50225;REN50226;REN50227;REN50228;REN50229;REN50230;REN50231;REN50232;REN50233;REN50234;REN50235;REN50236;REN50237;REN50238;REN50239;REN50240;REN50241;REN50242;REN50243;REN50244;REN50245;REN50246;REN50247;REN50248;REN50249;REN50250;REN50251;REN50252;REN50253;REN50254;REN50255;REN50256;REN50257;REN50258;REN50259;REN50260;REN50261;REN50262;REN50263;REN50264;REN50265;REN50266;REN50267;REN50268;REN50269;REN50270;REN50271;REN50272;REN50273;REN50274;REN50275;REN50276;REN50277;REN50278;REN50279;REN50280;REN50281;REN50282;REN50283;REN50284;REN50285;REN50286;REN50287;REN50288;REN50289;REN50290;REN50291;REN50292;REN50293;REN50294;REN50295;REN50296;REN50297;REN50298;REN50299;REN50300;REN50301;REN50302;REN50303;REN50304;REN50305;REN50306;REN50307;REN50308;REN50309;REN50310;REN50311;REN50312;REN50313;REN50314;REN50315;REN50316;REN50317;REN50318;REN50319;REN50320;REN50321;REN50322;REN50323;REN50324;REN50325;REN50326;REN50327;REN50328;REN50329;REN50330;REN50331;REN50332;REN50333;REN50334;REN50335;REN50336;REN50337;REN50338;REN50339;REN50340;REN50341;REN50342;REN50343;REN50344;REN50345;REN50346;REN50347;REN50348;REN50349;REN50350;REN50351;REN50352;REN50353;REN50354;REN50355;REN50356;REN50357;REN50358;REN50359;REN50360;REN50361;REN50362;REN50363;REN50364;REN50365;REN50366;REN50367;REN50368;REN50369;REN50370;REN50371;REN50372;REN50373;REN50374;REN50375;REN50376;REN50377;REN50378;REN50379;REN50380;REN50381;REN50382;REN50383;REN50384;REN50385;REN50386;REN50387;REN50388;REN50389;REN50390;REN50391;REN50392;REN50393;REN50394;REN50395;REN50396;REN50397;REN50398;REN50399;REN50400;REN50401;REN50402;REN50403;REN50404;REN50405;REN50406;REN50407;REN50408;REN50409;REN50410;REN50411;REN50412;REN50413;REN50414;REN50415;REN50416;REN50417;REN50418;REN50419;REN50420;REN50421;REN50422;REN50423;REN50424;REN50425;REN50426;REN50427;REN50428;REN50429;REN50430;REN50431;REN50432;REN50433;REN50434;REN50435;REN50436;REN50437;REN50438;REN50439;REN50440;REN50441;REN50442;REN50443;REN50444;REN50445;REN50446;REN50447;REN50448;REN50449;REN50450;REN50451;REN50452;REN50453;REN50454;REN50455;REN50456;REN50457;REN50458;REN50459;REN50460;REN50461;REN50462;REN50463;REN50464;REN50465;REN50466;REN50467;REN50468;REN50469;REN50470;REN50471;REN50472;REN50473;REN50474;REN50475;REN50476;REN50477;REN50478;REN50479;REN50480;REN50481;REN50482;REN50483;REN50484;REN50485;REN50486;REN50487;REN50488;REN50489;REN50490;REN50491;REN50492;REN50493;REN50494;REN50495;REN50496;REN50497;REN50498;REN50499;REN50500;REN50501;REN50502;REN50503;REN50504;REN50505;REN50506;REN50507;REN50508;REN50509;REN50510;REN50511;REN50512;REN50513;REN50514;REN50515;REN50516;REN50517;REN50518;REN50519;REN50520;REN50521;REN50522;REN50523;REN50524;REN50525;REN50526;REN50527;REN50528;REN50529;REN50530;REN50531;REN50532;REN50533;REN50534;REN50535;REN50536;REN50537;REN50538;REN50539;REN50540;REN50541;REN50542;REN50543;REN50544;REN50545;REN50546;REN50547;REN50548;REN50549;REN50550;REN50551;REN50552;REN50553;REN50554;REN50555;REN50556;REN50557;REN50558;REN50559;REN50560;REN50561;REN50562;REN50563;REN50564;REN50565;REN50566;REN50567;REN50568;REN50569;REN50570;REN50571;REN50572;REN50573;REN50574;REN50575;REN50576;REN50577;REN50578;REN50579;REN50580;REN50581;REN50582;REN50583;REN50584;REN50585;REN50586;REN50587;REN50588;REN50589;REN50590;REN50591;REN50592;REN50593;REN50594;REN50595;REN50596;REN50597;REN50598;REN50599;REN50600;REN50601;REN50602;REN50603;REN50604;REN50605;REN50606;REN50607;REN50608;REN50609;REN50610;REN50611;REN50612;REN50613;REN50614;REN50615;REN50616;REN50617;REN50618;REN50619;REN50620;REN50621;REN50622;REN50623;REN50624;REN50625;REN50626;REN50627;REN50630;REN50631;REN50632;REN50633;REN50634;REN50635;REN50636;REN50637;REN50638;REN50639;REN50640;REN50641;REN50642;REN50643;REN50644;REN50645;REN50646;REN50647;REN50648;REN50649;REN50650;REN50651;REN50652;REN50653;REN50654;REN50655;REN50656;REN50657;REN50658;REN50659;REN50660;REN50661;REN50662;REN50663;REN50664;REN50665;REN50666;REN50667;REN50668;REN50669;REN50670;REN50671;REN50672;REN50673;REN50674;REN50675;REN50676;REN50677;REN50678;REN50679;REN50680;REN50681;REN50682;REN50683;REN50684;REN50685;REN50686;REN50687;REN50688;REN50689;REN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AFG1 ATPase family gene 1 homolog;CG8520 gene product;OTTHUMP00000016943;OTTHUMP00000196344;lactation elevated protein 1;protein AFG1 homolog APPROVED protein-coding 16411 11223 REVIEWED 1353473 LAKLG lymphokine-activated killer cell ligand 3905 6479 153435 1321680 LAD1 ladinin 1 The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008] 1 1 1 q25.1-q32.3 174473817 174492312 - 199616589 199635292 - 201349966 201368669 - 1580863;6480464 9119369;16083285;12477932;9804354;9665393;8983017;8618014;8618013;15778465;20830310;21832049;18029348 3898 E9PDI4;H0Y901;O00515 ABBA01027533;ABBA01027534;AC119427;AK310917;AK313388;AMYH01001642;BC009742;BC071890;BX647307;CH471067;NM_005558;U42408;U58994 AAB58817;AAD10849;AAH09742;AAH71890;ABM84582;ABM86734;BAG36186;CAH56166;EAW91363;EAW91364;NP_005549;O00515 Hs.519035 LadA;MGC10355 OTTHUMP00000033878;OTTHUMP00000033879;lad-1;ladinin-1;linear IgA bullous dermatosis antigen;linear IgA disease antigen homolog APPROVED protein-coding ENSG00000159166 6472 03815 602314 REVIEWED 1312433 LACTB lactamase, beta This gene encodes a protein from the large 39S subunit of the mitochondrial ribosome (mitoribosome). The encoded protein has some sequence similarity to prokaryotic beta-lactamases but most of the residues that are responsible for the beta-lactamase activity are not conserved between the two proteins. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2010] 15 15 15 q22.1 40293752 40313875 + 61201085 61221313 + 63413999 63434260 + 1580863;6480464 18538381;17517902;17081983;15489334;14702039;12975309;12477932;12164938;11707067;11551941;20877624;22990118;18029348;15840729;21139048;20686565;21886157;19322201;22777922;23042605 114294 H0YNN5;P83111 ABBA01038919;AC087612;AK027808;AMYH01006701;AY358709;BC037198;BC067288;BG250900;BU624474;CH471082;NM_032857;NM_171846 AAH67288;AAQ89072;BAB55384;EAW77637;EAW77638;NP_116246;NP_741982;P83111 Hs.410388 1335467;1646619;1646621;1690504;2161852;2186569;2186571;7186692 A005R42;A006I36;D15S159;G20452;G20855;G31564;RH91565 FLJ14902;G24;MRPL56 OTTHUMP00000163691;mitochondrial 39S ribosomal protein L56;mitochondrial ribosomal protein L56;serine beta lactamase-like protein LACTB;serine beta-lactamase-like protein LACTB, mitochondrial APPROVED protein-coding ENSG00000103642 16468 07466 608440 REVIEWED 1344873 LAG3 lymphocyte-activation gene 3 Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008] 12 12 p13.32 6751931 6757880 + 6881670 6887621 + 1580863;6480464 1692078;9159144;18322184;17020785;16757686;16519819;15674389;14644131;12825348;12775570;12477932;11937541;11592063;10545478;9780176;9634475;9382927;8097522;1380059;20568250;19773279;20237496;20331378;20385810;20421648;20228263;21441454 3902 P18627;Q7Z643 A21353;AA687676;ABBA01017655;AC125494;AI274900;AK292104;AMYH01004208;BC037962;BC052589;CH471116;NM_002286;X51984;X51985;Y10211;Y13537;Y13586 AAH52589;BAF84793;CAA01547;CAA36242;CAA36243;CAA73914;EAW88740;EAW88741;NP_002277;P18627 Hs.409523 1777925;2139698;5125441 A21356;RH44859;RH71279 CD223 OTTHUMP00000240397;lymphocyte activation gene 3 protein APPROVED protein-coding ENSG00000089692 6476 01077 153337 REVIEWED 1318918 LAMA2 laminin, alpha 2 Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q22-q23 129245979 129879404 + 129204286 129837711 + 1600200;1600206;1600207;1580863;6480464;6907045;7240710 7550355;10773239;10335943 12467726;12100448;11938437;11591858;11584042;11311202;11071490;11054877;10616210;10225960;9271224;9158149;9131649;8939648;8910357;8889548;8294519;7925941;7535762;9597096;15210115;2185464;19294599;18700894;18053718;17426950;16709410;16504180;16344560;16335952;16226104;16216942;16212419;16084089;15452315;15146197;12609502;12601554;12552556;22038115;20397748;22654118;14557481;19553699;19692349;19893454;20379614;2099832;20207543;20607928;20477750;21822266;21953594;22006699;21906983;8798547;20301468;22420014;23396134;20301301 3908 P24043;Q59H37 AB208922;ABBA01025912;ABBA01025913;ABBA01025914;ABBA01025915;ABBA01025916;ABBA01025917;ABBA01025918;ABBA01025919;AK026829;AL041786;AL356124;AL445439;AL513527;AL583853;AL589927;AL590613;AL669984;AMYH01016660;AMYH01016661;AMYH01016662;AMYH01016663;AMYH01016664;AMYH01016665;AMYH01016666;BM984634;CA421469;CH471051;CN414799;DA864571;DB106101;M59832;NG_008678;NM_000426;NM_001079823;U66796;Z26653 AAA63215;AAB18388;AAI72257;AAI72564;BAD92159;CAA81394;CAI16682;EAW48080;EAW48081;EAW48082;NP_000417;NP_001073291;P24043 Hs.200841 1649978;1653122;1653821;1696510;1703410;1707296;1713387;1713643;1717277;1749575;1750633;1750933;1756259;1761027;1762793;1764423;1766647;1779368;1786052;1853333;2144426;2163860;2183198;2187194;5115345 D6S1457;D6S2085;D6S2413;D6S2437;G30956;RH119549;RH120703;RH122053;RH46671;SGC44486;SHGC-104670;SHGC-111271;SHGC-111945;SHGC-143161;SHGC-144988;SHGC-146573;SHGC-148006;SHGC-149941;SHGC-153360;SHGC-155545;SHGC-68772;SHGC-79252;SHGC-83145;WI-12009;WI-17944 LAMM OTTHUMP00000017189;laminin M chain;laminin subunit alpha-2;laminin-12 subunit alpha;laminin-2 subunit alpha;laminin-4 subunit alpha;merosin heavy chain APPROVED protein-coding ENSG00000196569 6482 01125 156225;607855 REVIEWED 737361 LALBA lactalbumin, alpha- This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008] 12 12 q13 47247734 47250096 - 48961467 48963829 - 1580863;6480464;6907045 7644538;7708733;19038921;18939797;16851644;16121399;15956205;15558602;15141307;15134431;15075403;14627740;14627739;12888554;12860137;12833543;12594043;12477932;11947697;11718563;11518539;10818224;10366425;10080897;10037730;9925761;9537992;9365923;9346914;9136116;6285305;5049057;3479943;2954544;2002399;19766656;19968717;20800603;23005341;20618441;20717070;21152271;3015198;22735492 3906 F8VWU1;P00709 AB049976;ABBA01031482;AC089987;AMYH01004433;BC069103;BC112316;BC112318;BX281629;CH471111;CR541987;CR542017;J00270;NM_002289;X05153 AAA60345;AAH69103;AAI12317;AAI12319;ADR82816;BAC06860;CAA28799;CAA28800;CAG46784;CAG46814;EAW57990;NP_002280;P00709 Hs.72938 1744037;2155266;2183235;5492120 GDB:384890;LALBA;STS-J00270;WI-7600 MGC138521;MGC138523 OTTHUMP00000243652;OTTHUMP00000243653;alpha-lactalbumin;lactose synthase B protein;lysozyme-like protein 7 APPROVED protein-coding ENSG00000167531 6480 01024 149750 REVIEWED 1344794 LAIR2 leukocyte-associated immunoglobulin-like receptor 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to LAIR1, an inhibitory receptor present on mononuclear leukocytes. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily, including LAIR1. The function of this protein is unknown, although it is thought to be secreted and may help modulate mucosal tolerance. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 52054534 52062418 + 59705825 59713709 + 55014013 55021900 + 6480464 20730098;18209062;17567994;15489334;12477932;10941842;10229813;9285412;8889549;17207965;19345263;20237496;22294640 3904 C9JFQ0;Q6ISS4 AA133246;ABBA01068154;AC008746;AF013250;AI262718;AMYH01009976;BC057790;BC069366;BX106365;CH471135;CU024913;CU467002;DQ656002;EF174570;HI574262;HI574264;NM_002288;NM_021270 AAB69325;AAH69366;ABO69591;ADQ32884;CBX47620;CBX47621;EAW72253;EAW72254;NP_002279;NP_067154;Q6ISS4 Hs.43803 1809568;1810484;1810622;1811314;1812740;1814616;1815882;1817080;1819998;1829216;1829218;1830658;1838000;1841332;2043030;2043032;2043034;2043044;2043046;2043048;2043066;2043068;2043070;2043074;2043110;2044090;2044092;2044094;2044096;2044098;2044100;2044102;2044104;2044106;2044108;2044110;2044112;2044114;2044116;2044118;2044120;2044122;2044124;2044126;2044128;2044130;2044132;2044134;2044136;2044138;2044140;2044142;2044144;2044146;2044148;2103904;2104020;2104022;2104024;2104026;2104028 ECD05776;ECD06235;ECD06304;ECD06655;ECD07381;ECD08338;ECD08981;ECD09589;ECD11070;ECD15737;ECD15738;ECD16465;ECD20171;ECD21862;REN92564;REN92565;REN92566;REN92571;REN92572;REN92573;REN92582;REN92583;REN92584;REN92586;REN92604;REN93098;REN93099;REN93100;REN93101;REN93102;REN93103;REN93104;REN93105;REN93106;REN93107;REN93108;REN93109;REN93110;REN93111;REN93112;REN93113;REN93114;REN93115;REN93116;REN93117;REN93118;REN93119;REN93120;REN93121;REN93122;REN93123;REN93124;REN93125;REN93126;REN93127;stSG606004;stSG606119;stSG606120;stSG606121;stSG606122;stSG606123 CD306;MGC71634 LAIR-2;OTTHUMP00000068389;OTTHUMP00000068390;leukocyte-associated Ig-like receptor 2;leukocyte-associated Ig-like receptor-2;leukocyte-associated immunoglobulin-like receptor 2 APPROVED protein-coding ENSG00000167618 6478 04293 602993 REVIEWED 1344054 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including NK cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. [provided by RefSeq, Jul 2008] 19 19 q13.4 59557047 59568533 - 54865235 54876721 - 6480464 16754721;18288129;18209062;18063695;17764536;17330824;16380958;15950745;15939744;15489334;15065762;14702039;14604962;14565933;12757266;12477932;12072189;11160222;11069054;10764762;10540327;10453657;10404045;10229813;9692876;9285412;10903717;10660620;21832049;18029348;18394348;19345263;19380792;20007810;20237496;21216234;21151495;23093673;21955987;22355402;22505724 3903 A8MZ84;C9IZB2;D3YTC8;F2Z2I1;F2Z3B9;F8WC07;H7C030;Q6GTX8 ABBA01068165;ABBA01068166;AC008746;AF013249;AF109683;AF251509;AF251510;AK093559;AK097869;AK290415;AK303261;AK309895;AK315419;AMYH01009976;BC027899;CH471135;CR542051;CU104682;CU207370;CU467018;NM_002287;NM_021706 AAB69324;AAF17107;AAF71274;AAF71275;AAH27899;ABM82998;ABM86192;BAF83104;BAG37808;BAG53543;BAG64343;CAG46848;EAW72233;EAW72234;EAW72235;EAW72236;EAW72237;EAW72238;NP_002278;NP_068352;Q6GTX8 Hs.572535 1804772;1809568;1810484;1810622;1811314;1812740;1814616;1815228;1815882;1817080;1818650;1819998;1820914;1823052;1829216;1829218;1837402;1842584;1843538;1844524;2042990;2042992;2042994;2042996;2042998;2043000;2043002;2043004;2043006;2043008;2043010;2043012;2043014;2043016;2043018;2043020;2043022;2043024;2043026;2043028;2043030;2043032;2043034;2043036;2043038;2043040;2043042;2043044;2043046;2043048;2043050;2043052;2043054;2043056;2043058;2043060;2043062;2043064;2043066;2043068;2043070;2043072;2043074;2043076;2043078;2043080;2043082;2043084;2043086;2043110;2044094;2044100;2044102;2044116;2044128;2044132;2044140;2044146;2044148;2103898;2103900;2103902;2103906;2103908;2103910;5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;ECD03319;ECD05776;ECD06235;ECD06304;ECD06655;ECD07381;ECD08338;ECD08649;ECD08981;ECD09589;ECD10389;ECD11070;ECD11533;ECD12614;ECD15737;ECD15738;ECD19868;ECD22499;ECD22978;ECD23476;REN92544;REN92545;REN92546;REN92547;REN92548;REN92549;REN92550;REN92551;REN92552;REN92553;REN92554;REN92555;REN92556;REN92557;REN92558;REN92559;REN92560;REN92561;REN92562;REN92563;REN92564;REN92565;REN92566;REN92567;REN92568;REN92569;REN92570;REN92571;REN92572;REN92573;REN92574;REN92575;REN92576;REN92577;REN92578;REN92579;REN92580;REN92581;REN92582;REN92583;REN92584;REN92585;REN92586;REN92587;REN92588;REN92589;REN92590;REN92591;REN92592;REN92604;REN93100;REN93103;REN93104;REN93111;REN93117;REN93119;REN93123;REN93126;REN93127;sY3084;stSG605999;stSG606000;stSG606001;stSG606006;stSG606007;stSG606008 CD305;LAIR-1 OTTHUMP00000068183;OTTHUMP00000068184;OTTHUMP00000068185;OTTHUMP00000068186;OTTHUMP00000068187;hLAIR1;leukocyte-associated immunoglobulin-like receptor 1 APPROVED protein-coding 6477 04292 602992 REVIEWED 1316264 LAMA1 laminin, alpha 1 18 18 p11.3 6931885 7107813 - 6941743 7117813 - 1580863;6480464;6484113;6907045 12180907;2733383;14557481;19587235;19416897;18661771;18519826;18436868;18162078;17618648;17307732;16709410;15885076;14702039;12615822;12524166;12477932;12393739;12149247;12111806;11827968;11798066;11311202;10964500;10934193;10837144;10620696;10470109;9688542;9647658;9334356;9169408;9136074;9006922;8999915;8995276;8463343;8360181;7925941;7698745;3488995;2591971;2373692;2049067;1714537;9597096;22760553;19913121;20628086;19672032;20237901;20379614;2099832;8601594;20876614;20019771;22840390;16196087;21541277;21570970;22159078;21963094;22693455;22919069 284217 P25391 ABBA01049901;ABBA01049902;ABBA01049903;ABBA01049904;ABBA01049905;AF351616;AK091949;AK093376;AMYH01008789;AMYH01008790;AP002409;AP005062;AP005210;BC016997;BC032758;BC039051;BC062318;BC107693;BC144590;CH471113;NM_005559;X58531 AAH39051;AAH62318;AAI72449;AAN76516;BAG52448;BAG52700;CAA41418;EAX01628;EAX01629;EAX01630;EAX01631;NP_005550;P25391 Hs.270364 1704138;1708708;1713729;1748693;1787906;5037552 D8S2279;RH120747;SHGC-110348;SHGC-173636;SHGC-79763;SHGC-81499 LAMA;S-LAM-alpha OTTHUMP00000164711;S-LAM alpha;S-laminin subunit alpha;laminin A chain;laminin subunit alpha-1;laminin-3 subunit alpha 2315440 INSUL43_H protein-coding ENSG00000101680 6481 01033 150320 VALIDATED 1602901 LAGE3 L antigen family, member 3 This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008] X X X q28 153866292 153868647 - 153358435 153360790 - 153705241 153707596 - 6480464 17353931;15772651;15489334;12477932;12384295;8786131;8733135;21145461;22912744;17207965;22939629;18781797;21139048;21890473;21906983;22863883;22053931 8270 B0S8I7;Q14657 ABBA01045276;AC244090;AMYH01023318;BC015744;BC019012;BC062330;BX936365;CH471172;NM_006014;X92896 AAH15744;AAH62330;ACE86897;ACE87584;ADQ32548;CAA63489;EAW72701;NP_006005;Q14657 Hs.444619 1817382;1817470;2037432;2037434;2037436;2037438;2037440;2037442;2037444;2037446;2037448;2037450;2037452;2037454;2037456;2037458;2037460;2037462;2037464;2037466;2037468;2037470;2037472;2102582;2102584;2102586;2173761 A008I20;ECD09741;ECD09785;REN89727;REN89728;REN89729;REN89730;REN89731;REN89732;REN89733;REN89734;REN89735;REN89736;REN89737;REN89738;REN89739;REN89740;REN89741;REN89742;REN89743;REN89744;REN89745;REN89746;REN89747;stSG604080;stSG604082;stSG604083 CVG5;DXS9879E;DXS9951E;ESO3;ITBA2 L antigen family member 3;OTTHUMP00000032119;protein ESO-3 APPROVED protein-coding 26058 02087 300060 REVIEWED 1345784 LAMA3 laminin, alpha 3 Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 subunit of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 18 18 q11.2 19523560 19789028 + 21269562 21535030 + 1600080;1580863;6480464;6484113;6907045;7240710 8586427 12943669;12915477;12826666;12532327;12477932;12382139;12196012;12136098;11891209;11810295;11775027;11373281;11311202;11278628;10956663;10806203;10801807;9950675;9759651;9395076;9151674;9010770;8939648;8618022;8077230;7921537;7775432;18664273;18603785;17825249;17466943;17071854;16344560;16297184;16219677;15854126;15695818;15694127;15373767;15316072;15149852;15044476;14702039;14695139;12947106;19940114;7633458;9597096;11707406;20936779;10637308;10811835;12482924;12802069;16169070;16757171;19724895;19752234;19773554;19834535;19851296;19936049;19945619;20198315;20372818;20036365;21034821;19343720;21940345;22563463;21276136;20301304;20301481;22351752;22434185;12875969;14612440;16179086;16537560;16870608;17000025;17137774;17482449;22898004;22959728;22673183 3909 B0YJ33;K7EIP4;K7EMU9;K7EPP3;K7EQ42;K7ERM0;Q16787 AA001432;AB107369;AB208853;ABBA01022623;ABBA01022624;ABBA01022625;ABBA01022626;ABBA01022627;AC010754;AC067796;AC090366;AF005258;AJ330420;AK024889;AK096422;AMYH01008887;AMYH01008888;AY327114;AY327115;AY327116;BC033663;BC043618;BC093406;CA427431;CB990144;DA862923;EF444992;L34155;L34156;NG_007853;NM_000227;NM_001127717;NM_001127718;NM_198129;X84392;X84900;X85107;X85108 AAA59483;AAA59484;AAC51867;AAH33663;AAH93406;AAI72402;AAI72580;AAQ72569;AAQ72570;AAQ72571;ACA06010;ACA06011;BAD13428;BAD92090;CAA59114;CAA59325;CAA59428;CAA59429;NP_000218;NP_001121189;NP_001121190;NP_937762;Q16787 Hs.436367 1652883;1658033;1666265;1691380;1705398;1761203;1783738;1783750;1791516;1792166;2122367;2153495;5021872;5022651;5037552 A009G17;D11S2921;D18S1260;D8S2279;G18025;G42069;PMC113197P1;PMC138037P1;SHGC-145215;SHGC-155337;SHGC-156081;SHGC-83562;STS-D29067;WI-9358;sY3084 BM600;E170;LAMNA;LOCS;lama3a BM600 150kD subunit;OTTHUMP00000162700;OTTHUMP00000162726;epiligrin 170 kda subunit;epiligrin alpha 3 subunit;epiligrin subunit alpha;kalinin 165kD subunit;kalinin subunit alpha;laminin subunit alpha-3;laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin);laminin-5 alpha 3 chain;laminin-5 subunit alpha;laminin-6 subunit alpha;laminin-7 subunit alpha;nicein 150kD subunit;nicein subunit alpha APPROVED protein-coding ENSG00000053747 6483 02883 226650;226700;245660;600805;615235 REVIEWED 1346017 LAMB2P1 laminin, beta 2 pseudogene 1 3 3 p21.3-p21.2 49147443 49148985 - 49190292 49191834 - 10393422;9925618;8889548 22973 ABBA01024609;AC135506;AJ009558;AMYH01013155;BM683069;BM719107;NR_004405 Hs.607092 1768415 SHGC-76926 LAMB2L APPROVED pseudo 6488 PROVISIONAL 1320894 LAMA4 laminin, alpha 4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011] 6 6 q21 112535827 112682521 - 112429134 112575917 - 1580863;6480464;6907045 7959779;19048114;18978678;18496706;18084776;17646580;17533363;16824487;16344560;16169070;16146715;15915502;15231748;15086543;14980521;14574404;12477932;12454288;12445830;12393739;12133914;11311202;11102753;10934193;9310354;9271224;9060828;8706685;8077230;7921537;7781776;9597096;20485444;14557481;19469865;20433883;20936779;21988832;22318606;15342556;8889548 3910 E5RFD7;E5RFQ2;E5RHF3;E5RK79;H0Y351;H0YAP9;H0YAQ5;Q5D044;Q6LET9;Q9UJN9 AB210027;ABBA01026078;ABBA01026079;AJ710266;AK027151;AK304401;AL590106;AMYH01016597;BC004241;BC026237;BC066552;BM014298;BM662226;BP234809;BT006690;BX648467;CH471051;CR407622;DB271101;NG_008209;NM_001105206;NM_001105207;NM_001105208;NM_001105209;NM_002290;S78569;U77706;X70904;X76939;X91171;Y14240;Z99289 AAB34635;AAB36540;AAH04241;AAH26237;AAH66552;AAP35336;ADZ15943;BAE06109;BAH14174;CAA50261;CAA54258;CAA62596;CAA74636;CAG28550;EAW48266;EAW48267;EAW48268;EAW48269;EAW48270;NP_001098676;NP_001098677;NP_001098678;NP_001098679;NP_002281;Q16363 Hs.654572 1335960;1663662;1684756;1690930;1707754;1710918;1848040;2122351;2131950;2138082;2139922;2139924;2146655;2147927;2178500;2180973;7185393;7185516 A005A32;A006N46;D6S1066;D6S1133E;D6S416;G20221;RH18133;RH45937;RH79598;RH92961;SGC38229;SHGC-82095;SHGC-84081;WI-11550;WI-12186;WI-18524 CMD1JJ;DKFZp686D23145;LAMA3;LAMA4*-1 OTTHUMP00000017039;OTTHUMP00000017043;OTTHUMP00000017044;OTTHUMP00000226932;OTTHUMP00000226933;OTTHUMP00000226935;OTTHUMP00000226993;laminin alpha 4 chain;laminin subunit alpha-4;laminin-14 subunit alpha;laminin-8 subunit alpha;laminin-9 subunit alpha APPROVED protein-coding ENSG00000112769 6484 02532 600133;615235 REVIEWED 1354079 LAMA5 laminin, alpha 5 This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013] 20 20 q13.2-q13.3 60317516 60375763 - 60884121 60942368 - 1580863;6480464;6484113;6907045 16226104;11311202;9271224;16236823;18694491;18635166;18523231;18496706;17888902;17482449;17137774;17000025;16940506;16870608;16723698;16537560;16460839;16339173;16289162;16179086;15975931;15967115;15579904;15302884;15231748;14691145;14612440;12875969;12817023;12743034;12691260;12682087;12477932;12393739;12382139;12379663;12366691;12244066;12242717;11985661;11891225;11821406;11780052;11572484;11352943;11133776;11104726;10964957;10964500;10671376;10620696;10617638;10207021;9628581;9353324;9245798;9006922;9597096;10956663;15774758;11159210;22666383;21461966;19913121;20628086;11964076;14557481;16169070;16581764;19752234;20433883;20972440;20951195;21195710;21067603;20019771;20819124;19615022;21858073;21921666;21890473;22099024;18654987;23264881;7499364;21963094;22898004;23022198 3911 E2QRK0;F2Z2S4;H7C5J6;O15230;Q5JTP4 AB010099;AB011105;AB067494;ABBA01040092;ABBA01040093;ABBA01040094;ABBA01040095;ABBA01040096;ABBA01040097;AF443072;AK074307;AL354836;AMYH01012048;AMYH01012049;AMYH01012050;AMYH01012051;AMYH01012052;AMYH01012053;BC003355;BC015386;BC085017;CH471077;NM_005560;Z95636 AAH85017;AAM12527;BAA25459;BAA31347;BAB67800;CAB09137;EAW75372;EAW75373;EAW75374;NP_005551;O15230 Hs.473256 2135518;5037552 D8S2279;RH17482 KIAA1907 OTTHUMP00000031475;laminin alpha-5 chain;laminin subunit alpha-5;laminin-10 subunit alpha;laminin-11 subunit alpha;laminin-15 subunit alpha APPROVED protein-coding ENSG00000130702 6485 03020 601033 REVIEWED 733412 LAMB2 laminin, beta 2 (laminin S) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011] 3 3 p21 49133551 49145603 - 49158547 49170599 - 728961;1580863;6480464;6907045;7240710;7207425;7207449;7207433 2922051;15367484;19864299;21511833 19367581;19147489;19048114;18672223;18594871;18065803;18058136;17943323;17804866;17426950;17371932;16921188;16912710;16898484;16146715;15603881;15342556;15146197;14702039;11891225;11311202;10964500;16236823;7698745;18029348;10671376;10454804;10393422;8662701;7967523;7921537;7795887;11964076;14557481;16581764;20507940;2099832;9645947;16751776;20936779;20556798;21125408;22863883;21236492;21078624;21139048;21906983;15231748;21963094;21988832;23000965;22268729 3913 F5H520;P55268 ABBA01024612;AC135506;AK094050;AMYH01013155;BP354643;CH471055;CN265778;CN265784;CV814167;NG_008094;NM_002292;S77512;X72760;X79683;Z68155;Z68156 AAB34682;AAI72384;BAC04272;CAA51288;CAA56130;CAA92279;EAW64958;EAW64959;NP_002283;P55268 Hs.439726 2148532 D3S3922 LAMS;NPHS5 OTTHUMP00000210663;OTTHUMP00000210664;S-LAM beta;S-laminin subunit beta;laminin B1s chain;laminin S;laminin subunit beta-2;laminin, beta 2;laminin-11 subunit beta;laminin-14 subunit beta;laminin-15 subunit beta;laminin-3 subunit beta;laminin-4 subunit beta;laminin-7 subunit beta;laminin-9 subunit beta APPROVED protein-coding ENSG00000172037 6487 01034 150325;609049;614199 REVIEWED 1319725 LAMC3 laminin, gamma 3 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011] 9 9 9 q31-q34 104423595 104507538 + 132874325 132958267 + 133884504 133968446 + 1580863;6480464;6907045 10225960;16303743;11311202;11162474;7921537;21572413;19913121;20628086;11964076;16581764;18697739;20237496;9645947;21963094;21988832;22961762 10319 H7BY04;Q5JTC4;Q8N2D6;Q9Y6N6 AB208887;ABBA01012071;ABBA01012072;ABBA01012073;ABBA01012074;ABBA01012075;ABBA01012076;AF041835;AK075536;AL133595;AL157938;AL355872;AL551493;AL583807;AMYH01021775;BX327938;CH471090;NG_029800;NM_006059;R45355 AAD36991;AAI56275;BAC11679;BAD92124;CAB63732;EAW87954;EAW87955;EAW87956;EAW87957;NP_006050;Q9Y6N6 Hs.201805 1657165;1738275;1740531;1767435;2219888;5037552;7185921 D8S2279;D9S110;D9S148;D9S313;D9S903;LAMC3__6368;WI-14302 DKFZp434E202;OCCM OTTHUMP00000022392;OTTHUMP00000022393;laminin subunit gamma-3;laminin-12 subunit gamma;laminin-14 subunit gamma;laminin-15 subunit gamma APPROVED protein-coding ENSG00000050555 6494 05069 604349;614115 REVIEWED 1344665 LAMP1P1 lysosomal-associated membrane protein 1 pseudogene 1 12 12 p13.3 3581469 3582575 - 1973747 1974853 - 100421198 ABBA01048814;AC005343;AMYH01004176;NG_023963 2181730 G09509 LAMP1L1 APPROVED pseudo 6500 INFERRED 1342609 LAMB4 laminin, beta 4 7 7 7 q31 102470963 102577805 - 107451232 107558037 - 107663996 107770801 - 6480464;6907045 19401682;16344560;16228230;12477932;11483367;11329013;9847074;11311202;19615732;21876539 22798 A4D0S4;C9JM08;C9JMJ0 AACC02000004;ABBA01057896;ABBA01057897;ABBA01057898;ABBA01057899;AC005048;AF028816;AF029325;AF172277;AK300385;AK301777;AMYH01017833;AMYH01017834;BC045172;BC140804;BC142619;BC144591;BG216241;CH236947;CH471070;DA859196;NM_007356 A4D0S4;AAC95123;AAC95124;AAF22284;AAH45172;AAI40805;AAI42620;AAI44592;BAG62119;BAG63235;EAL24387;EAW83425;EAW83426;NP_031382 Hs.62022 1337977;1696406;1724491;1775046;1777347;2108199;2121396;5022578;5109281;7187537 D1S1423;D1S1425;D7S2456;G36372;GDB:1317874;LAMB4_8000;RH122504;SHGC-57526;SHGC-83325 OTTHUMP00000206849;laminin beta-1-related protein;laminin subunit beta-4 protein-coding ENSG00000091128 6491 11224 VALIDATED 1314859 LAMB1 laminin, beta 1 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011] 7 7 q22 107351499 107431040 - 107564246 107643804 - 1624317;1580863;6480464;6907045;7240710 15523497 18450753;18162078;16713569;16344560;16335952;16146715;15987446;15967115;15706419;15474030;12853948;12743034;12615822;12477932;11891225;11311202;11096140;11067943;10964500;10801807;10671376;10407855;10225960;9647658;9435560;9309712;16289578;14557481;15894315;16236823;18029348;19526105;19416897;19147489;19058789;18691630;18474427;9196901;9184849;7921537;3661559;3611077;3493487;2704655;2563160;1975589;1864606;10842354;11054877;19122664;19834535;19915572;20201926;2099832;20936779;20228799;8702753;22863883;22939629;15604093;20360068;21078624;21744425;17517882;21139048;21906983;23472759;21370991;21276136;17170699;21963094;15123239;23382691;22268729 3912 C9J296;E7EPA6;E9PCS6;G3XAI2;P07942;Q8TAS6 AACC02000004;ABBA01057899;AC005046;AC078853;AK303501;AK307611;AK309921;AMYH01017833;BC026018;BC044633;BC052598;BC113455;BX648251;CH236947;CH471070;DA861108;M20206;M55370;M61916;M61951;NG_023255;NM_002291 AAA59482;AAA59485;AAA59486;AAA59487;AAH26018;AAI13456;AAS07514;BAG64534;EAL24388;EAW83423;EAW83424;NP_002282;P07942 Hs.650585 1665873;1672210;1687477;1691224;1698232;1700888;1711446;1751605;1756881;1858237;2135868;2141620;2142783;2153058;2167305;2172025;2176372;2179804 D7S2809;D7S3074;D7S777;G36368;G36373;GDB:1317194;LAMB1;RH102652;RH104071;RH71457;RH80344;RH80938;SHGC-105537;SHGC-144048;STS-H01470;STS-N30158;STS-R09502;WI-19020 CLM;LIS5;MGC142015 OTTHUMP00000195574;OTTHUMP00000195576;cutis laxa with marfanoid phenotype;laminin B1 chain;laminin subunit beta-1;laminin-1 subunit beta;laminin-10 subunit beta;laminin-12 subunit beta;laminin-2 subunit beta;laminin-6 subunit beta;laminin-8 subunit beta APPROVED protein-coding ENSG00000091136 6486 01029 150240;615191 REVIEWED 1344175 LAMB3 laminin, beta 3 The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q32 207854838 207892443 - 209788215 209825820 - 1600209;1580863;6480464;6907045;7240710 7698759 18387282;18331784;18284540;17476356;16710414;16147969;15854126;15538630;15489334;15373767;15370542;15363037;15342556;15331737;15149852;15146197;12477932;11867230;11689492;11311202;11296269;10964684;10806203;10577906;9989793;9856855;9840442;9767254;9579554;9501007;9457915;9242513;9205497;8824879;8530036;8088808;7775432;7706760;7550237;7550320;7774918;18603785;7512558;21345334;10637308;10811835;12482924;12802069;16757171;19275936;19383890;19700013;19701966;20163849;19940114;21034821;17170699;21963094;22563463;21139048;21906983;21987572;20301304;20301481;12875969;14612440;16179086;16537560;16870608;17137774;17482449;22898004;22673183 3914 Q13751;Q5THA1 ABBA01048215;AK296851;AK309524;AL023754;AL031316;AL555685;AMYH01001696;AY035783;BC058922;BC075838;BP350980;BX345166;CH471100;CN414822;D37766;L25541;NG_007116;NM_000228;NM_001017402;NM_001127641;U17744;U17745;U17746;U17747;U17748;U17749;U17750;U17751;U17752;U17753;U17754;U17755;U17756;U17757;U17758;U17759;U17760 AAA61834;AAC51352;AAH75838;AAK61364;ACE86477;ACE87158;BAA22263;BAG59417;EAW93448;EAW93449;NP_000219;NP_001017402;NP_001121113;Q13751 Hs.497636 1734196;1744871;1793930;1793932;1793934;2178845;2218560;5014724;5095754;5115144 D1S1735E;G60380;GDB:574129;LAMB3__4002;PMC310500P1;PMC310500P2;PMC310500P3;RH48497;RH68249;WI-7944 BM600-125KDA;FLJ99565;LAM5;LAMNB1 OTTHUMP00000034555;OTTHUMP00000034640;epiligrin subunit bata;kalinin B1 chain;kalinin subunit beta;kalinin-140kDa;laminin B1k chain;laminin S B3 chain;laminin subunit beta-3;laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD));laminin-5 subunit beta;nicein subunit beta;nicein-125kDa APPROVED protein-coding ENSG00000196878 6490 01032 150310;226650;226700 REVIEWED 1315384 LAMC2 laminin, gamma 2 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011] 1 1 q25-q31 181421797 181480885 + 183155174 183214262 + 1600210;6480464;6907045;7240710 8012393 8012394;19582886;19383890;19351903;19147813;19047908;18713836;18697739;18669583;18603785;18559558;18332212;17786338;17426950;17390227;17314405;16870608;16710414;16395714;16285938;16103736;15963983;15854126;15743799;15609083;15373767;15370542;15363037;15149852;15105812;14632187;12643602;12519076;12517801;12477932;12197671;12138239;11992550;11920553;11810295;11733994;11564184;11311202;11279058;10964684;10951251;10806203;10801807;10749670;10713141;9989793;9721586;9010770;8786121;8306988;8265624;7987320;7921537;7849725;1383240;20143393;19940114;21345334;10637308;10811835;12482924;12802069;16757171;17353186;19265264;19469865;19667121;19701966;19934926;20307265;20729552;20631633;21042753;21347282;21408207;21034821;21771037;22917688;23124251;21664646;21955313;21906983;16624538;17170699;22563463;20301304;20301481;22101459;22209340;12875969;14612440;16179086;16537560;17137774;17482449;22898004;22673183 3918 Q13753 ABBA01027752;AK296944;AK307945;AL354953;AMYH01001552;BC112286;BC113378;BC143653;CH471067;NG_007079;NM_005562;NM_018891;U31178;U31179;U31180;U31181;U31182;U31183;U31184;U31185;U31186;U31187;U31188;U31189;U31190;U31191;U31192;U31193;U31194;U31195;U31196;U31197;U31198;U31199;U31200;U31201;X73902;Z15008;Z15009 AAC50456;AAC50457;AAI12287;AAI13379;BAG59493;CAA52108;CAA78728;CAA78729;EAW91146;EAW91147;NP_005553;NP_061486;Q13753 Hs.591484 1648626;1663189;2160069;2161132;2162806;2190611;2217550;5120482;5120484;5120486 D1S2385;GDB:335853;GDB:335857;GDB:335860;LAMC2;LAMC2_4004;RH18131;RH68245;SHGC-35434;SHGC-76024 B2T;BM600;CSF;EBR2;EBR2A;LAMB2T;LAMNB2;MGC138491;MGC141938 BM600-100kDa;CSF 140 kDa subunit;OTTHUMP00000033550;OTTHUMP00000230852;cell-scattering factor 140 kDa subunit;epiligrin subunit gamma;kalinin (105kD);kalinin subunit gamma;kalinin-105kDa;ladsin (140kDa);ladsin 140 kDa subunit;laminin B2t chain;laminin subunit gamma-2;laminin-5 subunit gamma;large adhesive scatter factor 140 kDa subunit;nicein (100kDa);nicein subunit gamma;nicein-100kDa 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000058085 6493 01031 150292;226650;226700 REVIEWED 1318553 LAMC1 laminin, gamma 1 (formerly LAMB2) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011] 1 1 q31 181259218 181381350 + 182992595 183114727 + 1580863;6480464;6907045 15159456;15561105;9885251;14557481;16236823;18029348;18697739;18073332;17554784;17021862;16344560;16335952;16146715;15967115;15370542;15231748;15146197;12754519;12743034;12615822;12526023;12477932;12111806;11891225;11311202;11133776;11067943;10964500;10671376;9755123;9733643;9647658;8889548;7921537;7698745;3552045;3402995;3360804;3234037;2922051;1985895;1806043;16169070;22321639;22342894;20628624;11054877;19416897;19834535;20223449;20688161;21832049;22892598;23053286;22911854;23266556;15604093;17517882;21139048;21900206;21906983;21192846;19322201;21276136;22377151;17170699;21963094;21988832;22968451;22268729 3915 P11047;Q6NVY8;R4GNC7 ABBA01027752;ABBA01027753;ABBA01027754;AL354953;AL450304;AMYH01001552;BC015586;BC035429;BC067813;BF507385;BI768612;CF125114;CH471067;CN388644;DA401791;J03202;M27654;M55210;NG_011463;NM_002293;X13939 AAA59488;AAA59489;AAA59492;AAH15586;AAH67813;CAA32122;EAW91144;EAW91145;NP_002284;P11047 Hs.609663 1661010;1712701;1742595;1764645;1765953;1770774;1849930;2140645;2166801;2175618 D1S3330;D1S3536;GDB:197916;RH121047;SHGC-148234;SHGC-149351;SHGC-75980;SHGC-76013;SHGC-76019;WI-19021 LAMB2;MGC87297 OTTHUMP00000033450;S-LAM gamma;S-laminin subunit gamma;laminin B2 chain;laminin subunit gamma-1;laminin-1 subunit gamma;laminin-10 subunit gamma;laminin-11 subunit gamma;laminin-2 subunit gamma;laminin-3 subunit gamma;laminin-4 subunit gamma;laminin-6 subunit gamma;laminin-7 subunit gamma;laminin-8 subunit gamma;laminin-9 subunit gamma APPROVED protein-coding ENSG00000135862 6492 01030 150290 REVIEWED 737544 LAMP1 lysosomal-associated membrane protein 1 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008] 13 13 q34 112999470 113025742 + 113951469 113977741 + 1580863;4892310;4892631;6480464;6907045 20548331;18690537 3174652;15052268;19343823;19079288;18958159;18835598;17506821;17048695;16887987;16778144;16718270;16710742;16570122;16542649;16335952;15916720;15744340;15292400;15052658;14702039;12754519;12477932;12230470;12144129;10222041;9482728;8647888;8517882;8323299;7569928;3198605;3131762;2912382;2584229;2332441;2243102;1959930;18329387;15792797;19524015;20926008;20967466;21152024;16004603;22640649;21674799;22768177;22863883;22939629;23632890;15613468;21139048;21906983;21909394;19322201;22733818;23098255;21963094;22641697;23246001;11584299;12885763;17381240;18417583;19286658;19802344;20012524;20459747;20622010;21789505;9685355;23172893;18388320 3916 B4DWL3;P11279 AB209319;ABBA01019864;ABBA01019865;AK092398;AK301584;AL136221;AMYH01005399;BC006345;BC007845;BC021288;BC025335;BC093044;BU849686;CH471085;DB462451;J03263;J04182;NM_005561 AAA59524;AAA60382;AAH06345;AAH07845;AAH21288;AAH93044;ABM83540;ABM86780;BAD92556;BAG52545;BAG63075;EAX09202;EAX09203;NP_005552;P11279 Hs.494419 1856400;2124613;5022651 D11S2921;RH44107;WI-9160 CD107a;LAMPA;LGP120 CD107 antigen-like family member A;LAMP-1;OTTHUMP00000018748;lysosomal membrane glycoprotein 1;lysosome-associated membrane glycoprotein 1;lysosome-associated membrane protein 1 APPROVED protein-coding ENSG00000185896 6499 01076 153330 REVIEWED 5129390 LAMTOR3P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1 13 13 13 q13.3 18563865 18565112 + 36394676 36395046 + 37496580 37497827 + 100130119 ABBA01021350;AL138706;AMYH01005041;NG_008635;NG_016963 pseudo 39726 INFERRED 6480954 LAMTOR3P2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2 5 118468380 118468597 - 100874516 ABBA01068978;AC118465;AMYH01015576;NG_032353 pseudo 39727 INFERRED 1317407 LAMP3 lysosomal-associated membrane protein 3 Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010] 3 3 q26.3-q27 184322697 184363361 - 182840003 182880667 - 6480464 9721848;19335688;19308021;18292234;17606713;17056097;16887987;16344560;16204031;15489334;15111122;12477932;9768752;21738487;19913121;20628086;20863830;17554300;20414141;21292315;21596034;21319150;21810281;21254220;22809326 27074 C9JDI8;C9JYP5;E7ETP9;Q9UQV4 AB013924;ABBA01058485;AC104641;AJ005766;AK302894;AK313172;AMYH01013704;BC032940;BI462212;CH471052;DA994656;DC399447;HI573952;NM_014398 AAH32940;ABM83044;BAA34533;BAG35989;BAG64067;CAA06691;CBX47465;EAW78337;EAW78338;NP_055213;Q9UQV4 Hs.518448 1740257;2108803;2112588;2112702;2145130;2145132 A005L36;D3S1690;D3S4355;D3S4413;G20317;LAMP3_3573.2 CD208;DC LAMP;DC-LAMP;DCLAMP;LAMP;LAMP-3;TSC403 DC LAMP;DC-lysosome-associated membrane glycoprotein;LAMP-3;OTTHUMP00000212868;OTTHUMP00000212869;lysosome-associated membrane glycoprotein 3 APPROVED protein-coding ENSG00000078081 14582 12062 605883 VALIDATED 1315920 LAMP5 lysosomal-associated membrane protein family, member 5 20 20 20 p12 9565283 9581196 + 9443271 9459171 + 9495005 9511171 + 6480464 15489334;12477932;11780052;21642595 24141 Q9UJQ1 ABBA01053928;AK295336;AK316114;AL031652;AL121740;AMYH01011706;BC050727;BG707942;BI602543;CH471133;CS185536;GM048030;GM048061;GM675596;NM_001199897;NM_012261 AAH50727;BAG58309;BAH14485;CAB57330;CAJ42717;CAT03711;CAT03723;CAV33173;EAX10361;EAX10362;NP_001186826;NP_036393;Q9UJQ1 Hs.22920 1674765;2174472;2174474 A001Z47;G19835;Z94425 BAD-LAMP;BADLAMP;C20orf103;LAMP-5;UNC-43 LAMP family protein C20orf103;OTTHUMP00000030243;brain and dendritic cell associated LAMP;brain and dendritic cell-associated LAMP;brain-associated LAMP-like protein;lysosome-associated membrane glycoprotein 5;lysosome-associated membrane protein 5 APPROVED protein-coding ENSG00000125869 16097 12736 614641 VALIDATED 7243078 LAMTOR5-AS1 LAMTOR5 antisense RNA 1 101410535 AL390797;BE547292;BG718030;HY022359;NR_102697 miscrna 40823 VALIDATED 735952 LAMP2 lysosomal-associated membrane protein 2 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] X X q24 119448709 119487189 - 119560003 119603204 - 1580822;1580823;1580826;1580863;4892310;6480464;6907045;7240710 16144992;10972294;15673802;20548331 15229288;15297306;8743190;19362087;19343823;19057086;18958159;18550537;18403758;18061453;18004770;17899313;17873513;17506821;17296900;17048695;16570122;16344560;16335952;16190986;15907287;15894275;15772651;15489334;15340161;14561493;12754519;12505983;12477932;12144129;11139587;10222041;9746610;9668075;9010755;8995204;8660832;8517882;8323299;7999007;7488019;7487911;3198605;2912382;2332441;2243102;2032724;1959930;15333840;21462217;19913121;20628086;12536145;1435334;19524015;19533775;19815536;20513107;20926008;20920663;20173215;20518820;21674799;22939629;22863883;22867958;21161685;22732524;23503679;20086096;21514572;19292867;20540933;21139048;18635949;19322201;22541782;22365987;19458911;21988832;23071649;23349634;22641697;22874552;19474101;19912576;22593165;19535332 3920 B4E2S7;B7Z2R9;H0YCG2;P13473 ABBA01049588;ABBA01049589;ABBA01049590;AC002476;AC006962;AK291090;AK293931;AK295038;AK304405;AMYH01022918;AY561849;BC002965;BC040653;BP386088;CH471107;DA405328;J04183;L09717;NG_007995;NM_001122606;NM_002294;NM_013995;S79873;U36336;X77196 AAA60383;AAA91149;AAB35426;AAB41647;AAB67313;AAB67314;AAH02965;AAS67876;ABM83021;ABM86214;BAF83779;BAG57310;BAG65239;BAH11955;CAA54416;EAX11881;EAX11882;EAX11883;EAX11884;NP_001116078;NP_002285;NP_054701;P13473 Hs.496684 1654856;1663478;1667665;1668222;1725113;1846871;1846873;1849343;1849345;2117813;2122908;2128872;2130970;2146079;2150366;2157910;2171633;2171836;2175954;2217552;2220274;5092780;5117522 A001X10;A005Z05;A006D20;AL008932;DXS7032E;DXS7521;DXS7878;DXS8328;G19741;G20613;G32325;GDB:574059;KAL1;LAMP2_3399;RH124059;RH36081;RH78986;RH79207;STS-AA009802;STS-G07303;STS-N63463;WI-11028;WI-13810 CD107b;LAMP-2;LAMPB;LGP110 CD107 antigen-like family member B;LAMP-2;OTTHUMP00000023943;OTTHUMP00000023944;OTTHUMP00000226572;lysosomal membrane glycoprotein 2;lysosome-associated membrane glycoprotein 2;lysosome-associated membrane protein 2 APPROVED protein-coding ENSG00000005893 6501 02396 300257;309060 REVIEWED 1606308 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 1 1 1 q22 129097578 129101362 + 154291229 154294923 + 156024517 156028301 + 6480464;7240710 16710414;15489334;12477932;11266467;11042152;20381137;21988832;23341997;22939629;22968171;21829671;21139048 28956 Q9Y2Q5 ABBA01016673;AF070659;AK307086;AL355388;AMYH01001434;BC024190;BM353842;BU184679;CA438137;CH471121;DB566869;NG_009898;NM_001145264;NM_014017 AAD20965;AAH24190;ABM83891;ABM87211;EAW53004;NP_001138736;NP_054736;Q9Y2Q5 Hs.632483 5016248 RH45081 ENDAP;HSPC003;MAPBPIP;MAPKSP1AP;ROBLD3;RP11-336K24.9;Ragulator2;p14 MAPKSP1 adaptor protein;OTTHUMP00000018850;OTTHUMP00000018851;OTTHUMP00000018852;endosomal adaptor protein p14;late endosomal/lysosomal Mp1-interacting protein;late endosomal/lysosomal adaptor and MAPK and MTOR activator 2;mitogen-activated protein-binding protein-interacting protein;mitogen-activated protein-binding protein-interacting protein (MAPBPIP);ragulator complex protein LAMTOR2;roadblock domain containing 3;roadblock domain-containing protein 3 APPROVED protein-coding ENSG00000116586 29796 17463 610389;610798 REVIEWED 1604690 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 7 7 7 q22.1 94481881 94487184 + 99584466 99589769 + 99746530 99751833 + 6480464 12477932;22980980 389541 C9JXA7;Q0VGL1 AACC02000084;ABBA01013232;AC073842;AMYH01017728;AX588498;BC063401;BC105609;BC130553;BC130559;BE733059;BG715626;CH236956;CH471091;NM_001008395 AAH63401;AAI05610;AAI30554;AAI30560;ADR82787;CAD61554;EAW76584;EAW76585;NP_001008396;Q0VGL1 Hs.406520 1774863;2120403;2134644 D7S1909;D7S2925;WI-20780 C7orf59;MGC163425;MGC163431 OTTHUMP00000206821;OTTHUMP00000210553;UPF0539 protein C7orf59;hypothetical protein LOC389541;late endosomal/lysosomal adaptor and MAPK and MTOR activator 4;ragulator complex protein LAMTOR4 APPROVED protein-coding ENSG00000188186 33772 17380 VALIDATED 1605997 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 11 11 11 q13.4 69110285 69116380 - 71485986 71491970 - 71808338 71814433 - 6480464 16169070;15592455;15498874;15489334;14702039;12477932;12358155;22513874;20381137;19654316;18029348;19177150;20544018;21087931;21674799;22939629;17342744;21816923;20972266;21139048;21890473;21906983;21987572;19322201;21963094;22424946;23000965;22053931;22505724 55004 F5GX19;F5H267;F5H3Y3;F5H479;H0YFI1;Q6IAA8 ABBA01017542;AF289583;AK000632;AK300681;AMYH01003791;AP000812;BC001706;BX381569;CH471076;CR457247;NG_021423;NM_017907 AAH01706;AAL55767;BAA91297;BAG62364;CAG33528;EAW74836;EAW74837;NP_060377;Q6IAA8 Hs.731528 1857281;2148684;2148686;2191507 A005V05;D11S2238E;G20526;MARC_24275-24276:1044473527:2 C11orf59;FLJ20625;PDRO;Prdo;Ragulator1;p18;p27RF-Rho OTTHUMP00000237128;OTTHUMP00000237131;OTTHUMP00000237132;late endosomal/lysosomal adaptor and MAPK and MTOR activator 1;lipid raft adaptor protein p18;p27Kip1-releasing factor from RhoA;p27RF-Rho;p27kip1 releasing factor from RhoA;protein associated with DRMs and endosomes;ragulator complex protein LAMTOR1;ragulator complex protein PDRO;rhoA activator C11orf59 APPROVED protein-coding ENSG00000149357 26068 07933 613510 VALIDATED 6482762 LAP3P1 leucine aminopeptidase 3 pseudogene 1 6 83634546 83634841 - 100873864 ABBA01040448;AL355613;AL450483;AMYH01016467;NG_032656 pseudo 42364 INFERRED 5135125 LAP3P2 leucine aminopeptidase 3 pseudogene 2 6 6 6 p21.2 38196568 38198263 + 36749506 36751117 + 36641527 36643222 + 389386 ABBA01038265;AL121715;AMYH01016275;NG_022353 1789685;2152088 RW1;SHGC-50545 pseudo 42365 INFERRED 1316146 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011] 4 4 q23 101021387 101034726 - 100799495 100815703 - 6480464;6907045 15016825;17908799;17254543;17178906;17113937;16344560;15923628;15547943;15489334;15263099;15118098;14702039;14611647;12479806;12477932;11483580;11266467;9733512;8125298;21490707;20655927;20381137;21829671;22939629;19322201;21900206;21139048;21890473;23341997;21988832 8649 Q9UHA4 ABBA01063674;AF130115;AF201947;AF305816;AK022313;AK223311;AK311755;AL544981;AMYH01014423;AP001962;BC005340;BC026245;BC110402;BI562630;CH471057;DA300823;FB746701;NM_001243736;NM_021970;NR_024170 AAF17239;AAG35540;AAH26245;AAK55519;ABM84034;ABM87380;BAD97031;BAG34698;CAT04668;EAX06112;EAX06113;NP_001230665;NP_068805;Q9UHA4 Hs.433332 1680355;1685185;1696298;1699342;1768455;1770585;2107311 MAP2K1IP1__7369;RH103258;RH94142;SHGC-36699;SHGC-54246;SHGC-67358;SHGC-77725 MAP2K1IP1;MAPBP;MAPKSP1;MP1;PRO0633;Ragulator3 MAPK scaffold protein 1;MEK binding partner 1;MEK partner 1;MEK-binding partner 1;OTTHUMP00000161681;OTTHUMP00000219461;PRO0633;late endosomal/lysosomal adaptor and MAPK and MTOR activator 3;mitogen-activated protein kinase kinase 1 interacting protein 1;mitogen-activated protein kinase kinase 1-interacting protein 1;mitogen-activated protein kinase scaffold protein 1;ragulator complex protein LAMTOR3 APPROVED protein-coding ENSG00000109270 15606 04485 603296 REVIEWED 1349608 LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) X X X p21.1 41568483 41674412 + 37315741 37421668 + 37430822 37536750 + 6480464 12477932;10409428 347404 Q6ZV70 ABBA01047101;ABBA01047102;ABBA01047103;ABBA01047104;ABBA01047105;ABBA01047106;ABBA01047107;ABBA01047108;ABBA01047109;ABBA01047110;ABBA01047111;ABBA01047112;ABBA01047113;ABBA01047114;AC233283;AC233297;AI989993;AK124915;AL121577;AL627244;AMYH01022210;BC093667;BC093669;BC143528;BG944288;CH471141;NG_016368;NM_001170331;NM_198511 AAH93667;AAH93669;BAC85993;EAW59455;NP_001163802;NP_940913;Q6ZV70 Hs.521932 FLJ42925 OTTHUMP00000031917;OTTHUMP00000031918;lanC-like protein 3 protein-coding ENSG00000147036 24767 13957 VALIDATED 69464 LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial) This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008] 2 2 2 q33-q35 205064000 205109528 - 211004220 211049676 - 211295973 211341499 - 1580863;6480464 21145461;9512664;15082773;15489334;12477932;11474189;10944443;19528316;18029348;22939629;21139048;21906983;22234250;18781797;19343720;21987572;22118674;22891245 10314 B2R602;E9PHS0;F8WDS9;H7C2E3;O43813;Q53TN2 ABBA01062737;AC007970;AJ289236;AK294674;AK309295;AK312381;AMYH01011464;BC007041;BC028685;BX473106;CH471063;CR541777;DC321883;DC324843;NM_001136574;NM_001136575;NM_006055;Y11395 AAH28685;AAY14696;ABM84706;BAG35299;BAG57838;CAA72205;CAC21950;CAG46576;EAW70487;EAW70488;EAW70489;EAW70490;EAW70491;NP_001130046;NP_001130047;NP_006046;O43813 Hs.13351 1652580;1669367;1686556;1734816;1734842;1772993;2120631;2124867;2177048 A004N22;Cda0gh01;D2S1578E;D2S1594E;D2S1997;RH69510;RH98466;SHGC-36761;WI-13674 GPR69A;p40 40 kDa erythrocyte membrane protein;G protein-coupled receptor 69A;LanC (bacterial lantibiotic synthetase component C)-like 1;LanC (bacterial lantibiotic synthetase component);OTTHUMP00000163940;OTTHUMP00000206535;OTTHUMP00000206536;OTTHUMP00000206537;OTTHUMP00000206538;lanC-like protein 1 APPROVED protein-coding ENSG00000115365 6508 16040 604155 REVIEWED 1312775 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008] 1 1 p13.3 110745398 110752069 - 110943875 110950546 - 1580863;6480464 12773388;9499022;18158869;18032378;17428866;17303008;17050029;16176273;16169070;16055925;15955450;15489334;14702039;12477932;11925594;11788598;22209835;22980980;14578865;20811532;18029348;19885569;20877624;22939629;23537647;21343296;21988832;23291272;23352642;21651858;23266610;22293503;21139048;21706058;22740693 10542 E9PLX3;O43504;R4GMU8 AA443738;ABBA01068392;AF029890;AK054769;AK056679;AL390797;AMYH01000943;AY623819;BC062619;BX092018;CH471122;CR456866;CR542130;NM_006402 AAC52032;AAH62619;AAV30683;ADR82678;BAG51783;CAG33147;CAG46927;EAW56447;NP_006393;O43504 Hs.439815 1679157;2172821;2172823;5015619;5022578;5037552;5109281 A006J43;D11S3114;D1S1423;D1S1425;D8S2279;G20883;WIAF-2073 HBXIP;MGC71071;XIP HBV X-interacting protein;HBx-interacting protein;OTTHUMP00000013288;OTTHUMP00000234793;OTTHUMP00000234794;hepatitis B virus X-interacting protein;hepatitis B virus x interacting protein;hepatitis B virus x-interacting protein (9.6kD);late endosomal/lysosomal adaptor and MAPK and MTOR activator 5;ragulator complex protein LAMTOR5 APPROVED protein-coding ENSG00000134248 17955 09773 608521 REVIEWED 6481045 LARGE-IT1 LARGE intronic transcript 1 (non-protein coding) 100874331 Z68324 miscrna 41357 1321926 LANCL2 LanC lantibiotic synthetase component C-like 2 (bacterial) 7 7 7 q31.1-q31.33 55536348 55604629 + 55400635 55468929 + 55433141 55501435 + 1580863;6480464 11762191;12566319;19165527;15489334;14702039;12853948;12477932;8125298;16979580;19615732;19667068;12690205;18029348;20512604;21832049;22939629;22037458;21139048;21044950;22354994 55915 B3KTN5;H7BZ40;Q9NS86 AA994905;AACC02000091;AB035966;ABBA01011851;ABBA01011852;ABBA01011853;AC073347;AF353942;AJ278245;AK095857;AK225958;AK301747;AK313326;AL713665;AMYH01017269;AMYH01017270;BC004887;BC070049;BF590020;BI869599;CH236957;CH471201;NM_018697 AAH04887;AAH70049;AAK83286;AAQ93360;BAA96800;BAG36131;BAG53147;BAG63209;CAC21715;CAD28471;EAL23810;EAW50968;NP_061167;Q9NS86 Hs.595384;Hs.706612 1657334;1670880;1676654;1735702;1771741;2122768;2136490;2141724;2155852;2159875 D7S2128E;D7S2156E;GDB:1317264;GDB:4585065;GDB:4585709;RH79715;SHGC-32070;WI-16990;WI-18503;WIAF-2178 GPR69B;MGC87139;TASP G protein-coupled receptor 69B;LanC (bacterial lantibiotic synthetase component C)-like 2;OTTHUMP00000159664;lanC-like protein 2;testis-specific adriamycin sensitivity protein protein-coding ENSG00000132434 6509 13956 612919 VALIDATED 1323527 LAPTM4B lysosomal protein transmembrane 4 beta 8 8 q22.1 98856985 98934006 + 98787809 98864830 + 1580863;6480464 22578410;18949404;18334282;17965115;17074969;16769693;16381901;16303743;15968325;15911104;15489336;15489334;15162524;12902989;12640618;12477932;11230166;11076863;22193644;22270081;22509374;20583413;20711237;19690886;19843073;20358632;20379614;20881850;21416470;21656743;21429547;22984585;21618708;22412199;23292099;22037872;21139048;22096579;22156622;22207410;22302286;23312008;23345117;22971479;22984631 55353 H0YBN1;Q86VI4 ABBA01037521;ABBA01037522;ABBA01037523;ABBA01037524;ABBA01037525;ABBA01037526;AF317417;AF527412;AI079853;AK075326;AK311377;AL136942;AMYH01018915;AP002906;AP003357;AY057051;AY198226;AY219176;AY219177;AY261384;BC014129;BC031021;BC038117;CH471060;NM_018407 AAH14129;AAH31021;AAH38117;AAK69595;AAL17908;AAO63563;AAO64358;AAO64359;AAO84265;AAP14034;BAC11549;CAB66876;CAL37604;CAL38567;EAW91763;NP_060877;Q86VI4 Hs.492314 1662493;1686893;2158316;5015619;5015961;5022322 D11S2560;D11S3114;D15S1477;RH65107;SHGC-31823;WI-18673 LAPTM4beta;LC27 OTTHUMP00000227369;OTTHUMP00000227371;lysosomal associated protein transmembrane 4 beta;lysosomal-associated transmembrane protein 4B;lysosome-associated transmembrane protein 4-beta protein-coding 13646 613296 VALIDATED 6484508 LARP1BP1 La ribonucleoprotein domain family, member 1B pseudogene 1 4 q13.1 64215735 64217192 + 644578 ABBA01022850;AC021856;AMYH01014229;NG_028891 2128398;2162507;2166284;2180997 D4S2863;G01779;SHGC-50617;SHGC-51419 pseudo 37097 INFERRED 6484482 LARP1BP3 La ribonucleoprotein domain family, member 1B pseudogene 3 X q26.2 133337813 133339937 + 644403 ABBA01042406;AC002407;AMYH01022992;NG_022704 1748115;2141526;5094462 AL008919;G54812;G66747 pseudo 44085 INFERRED 1354379 LARP1P1 La ribonucleoprotein domain family, member 1 pseudogene 1 6 p22 26164261 26168404 + 100379623;493819 ABBA01066553;ABBA01066554;AL353759;AMYH01016162;NG_029346 2166489 D6S2372 HCG10P;dJ221C16.7 APPROVED pseudo 23183 INFERRED 1354375 LAPTM5 lysosomal protein transmembrane 5 This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009] 1 1 1 p34 29461191 29486564 - 30977903 31003254 - 31205315 31230683 - 1580863;6480464 8661146;18203646;18202799;15231748;12886255;12527926;12477932;7788527;17116753;19787053;22009753;19953087;21890473;21906983;22733818;22880058;22505724 7805 Q13571;Q5TBB8 ABBA01023497;AF401210;AK292009;AK297014;AL137027;AL137857;AMYH01000449;BC106896;BC106897;BF000809;CH471059;CT003824;D42042;NM_006762;U30498;U30499;U51240 AAA74018;AAB08975;AAI06897;AAI06898;BAA07643;BAF84698;BAG59547;EAX07640;EAX07641;NP_006753;Q13571 Hs.371021 1657702;1692190;1797812;2131067 AL033732;LAPTM5_1436;RH25313;SHGC-12619 CLAST6;FLJ61683;FLJ97251;MGC125860;MGC125861 CD40-ligand-activated specific transcripts;OTTHUMP00000003806;human retinoic acid-inducible E3 protein;lysosomal associated multispanning membrane protein 5;lysosomal multispanning membrane protein 5;lysosomal-associated multitransmembrane protein 5;lysosomal-associated transmembrane protein 5;retinoic acid-inducible E3 protein APPROVED protein-coding ENSG00000162511 29612 03280 601476 REVIEWED 1317491 LAP3 leucine aminopeptidase 3 4 4 p15.32 17188025 17218688 + 17578927 17609590 + 1580863;6480464;6907045 1908238;16513116;15489334;14702039;12477932;8506345;8125298;6350155;4692835;3733731;1602151;752543;752511;689684;18029348;20877624;20379614;20562859;22863883;22990118;21832049;21900206;21139048;21890473;21906983;16009940;22505724 51056 H0Y983;H0Y9Q1;P28838 ABBA01032610;ABBA01032611;ABBA01032612;ABBA01032613;AC006160;AF061738;AK022055;AK130293;AK225511;AK298613;AK298790;AK307723;AMYH01014034;BC006199;BC065564;BI827557;BM800626;CH471069;CR457128;NM_015907 AAD17527;AAH06199;AAH65564;BAG51065;BAG60795;BAG60927;CAG33409;EAW92780;NP_056991;P28838 Hs.570791 1696150;1775288;2118439;2152088;2152090;2219890 LAP3__6369;RH65094;SHGC-24779;SHGC-50545;SHGC-59685;SHGC-79088 LAP;LAPEP;PEPS LAP-3;OTTHUMP00000158664;cytosol aminopeptidase;leucyl aminopeptidase;peptidase S;proline aminopeptidase;prolyl aminopeptidase protein-coding ENSG00000002549 18449 07516 170250 VALIDATED 3302346 LARP4P La ribonucleoprotein domain family, member 4 pseudogene 15 15 q14 13669299 13673173 + 36909213 36910624 + 554354 ABBA01038496;AC013640;AC103988;AMYH01006547;NG_016303 pseudo 21438 INFERRED 1346215 LAPTM4A lysosomal protein transmembrane 4 alpha This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 20094750 20114129 - 20095894 20114926 - 20232411 20251789 - 1580863;6480464 10942595;15489334;15342556;12975309;12766061;12477932;8621662;7788527;16169070;21621269;22939629;21553234;21987572;20972266;21139048;21890473;21906983;21963094;19322201;22096579;22505724 9741 Q15012;Q6IBP4 ABBA01018483;ABBA01018484;AC079145;AC098828;AK129875;AK304433;AMYH01010148;AY359028;BC000421;BC003158;BC093075;BP354016;CB962971;CD679337;CH471053;CR456758;D14696;DR156048;NM_014713 AAH00421;AAH03158;AAH93075;AAQ89387;AAX88938;AAY24172;ADZ15846;BAA03522;BAG65258;CAG33039;EAX00833;EAX00834;EAX00835;EAX00836;NP_055528;Q15012 Hs.467807 1654225;1663944;1673924;1712038;1767725;1767727;1796240 A005V18;D2S1999;G20533;LAPTM4A_1462;RH118716;RH17379;RH25334 HUMORF13;KIAA0108;LAPTM4;MBNT;Mtrp OTTHUMP00000115941;golgi 4-transmembrane-spanning transporter MTP;lysosomal-associated protein transmembrane 4 alpha;lysosomal-associated transmembrane protein 4A;membrane nucleoside transporter APPROVED protein-coding ENSG00000068697 6924 13959 REVIEWED 1318927 LARGE like-glycosyltransferase This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 22 22 q12.3 31999063 32646410 - 33669062 34316416 - 1358756;1580863;6480464;7240710 12966029 9892679;19299310;19244252;18519826;17878207;17436019;15958417;15752776;15661757;15489334;15461802;15210115;15184894;12477932;12140558;10591208;9628581;20800603;20201926;20379614;21203384;21248746;21987822;22223806;21727005;20301468;22589738 9215 B0QY08;B0QYZ8;B0QYZ9;B0QZ00;B0QZ01;B0QZ02;E9PH73;J3KQ68;Q9UH22 AB011181;ABBA01055386;ABBA01055387;ABBA01055388;ABBA01055389;ABBA01055390;ABBA01055391;ABBA01055392;ABBA01055393;ABBA01055394;AI167885;AI198348;AI199197;AJ007583;AK294766;AK295636;AK301808;AK310462;AL008630;AL008640;AL008715;AL023577;AL096754;AL133451;AMYH01012732;AMYH01012733;BC117425;BC126404;BF057493;CH471095;CR456510;DR000293;NG_009929;NM_004737;NM_133642;Z49866;Z54073;Z68287;Z68324;Z69042;Z69713;Z69715;Z69943;Z70288;Z73421;Z73429;Z76736;Z77853;Z82173;Z82179;Z97354 AAI17426;AAI26405;ADR83266;BAA25535;BAH11875;BAH12135;BAH13559;CAA07571;CAG30396;CAI17890;CAK54540;CAK54839;CAQ09433;CAQ09434;CAQ09435;CAX15214;CAX15215;EAW60041;EAW60042;EAW60043;NP_004728;NP_598397;O95461 Hs.474667 1336985;1341353;1658252;1664014;1669304;1700870;1713161;1717909;1723539;1735052;1747437;1756309;1757059;1852464;2114319;2115200;2133774;2139767;2142590;2143335;2162054;2175235;2181630;2184554;5094396 A002V10;A004Q39;AL021653;Cda01d03;D22S1162;D22S1172;D22S1203;D22S38;D22S577;D22S579;D22S605;D22S739;D22S984E;DXS7708;G54753;G65342;RH104061;RH118587;RH120368;RH122781;SHGC-143268;SHGC-144435;SHGC-16516;STS-T94556;WI-13920 KIAA0609;MDC1D;MDDGA6;MDDGB6 OTTHUMP00000198703;OTTHUMP00000198704;acetylglucosaminyltransferase-like 1A;acetylglucosaminyltransferase-like protein;glycosyltransferase-like protein LARGE1;like-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000133424 6511 04665 603590;608840;613154 REVIEWED 1605666 LARP1B La ribonucleoprotein domain family, member 1B This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 2013] 4 4 4 q28.2 126363570 126513216 + 129201953 129351739 + 128982503 129132289 + 6480464 21145461;14702039;12477932;12045101;21832049;21906983;19322201;22327645;23314748;16344560;21988832;8889549;22797925 55132 D6R9W6;D6RJB0;G3V0E9;G3XAJ5;H0Y9B4;H0Y9K3;Q8N6F4 AA037692;ABBA01044808;ABBA01044809;ABBA01044810;ABBA01044811;ABBA01044812;ABBA01044813;ABBA01044814;AC096898;AC099340;AC108045;AC114735;AC124030;AI374914;AK001240;AK027164;AK092764;AK098437;AK310421;AL137759;AL832170;AMYH01014509;AMYH01014510;AMYH01014511;BC002840;BC018794;BC030516;BC050654;BC062606;BC110300;BM129812;BX537937;CH471056;DA181086;DB230609;NM_001278604;NM_018078;NM_032239;NM_178043 AAH30516;AAH50654;AAH62606;AAI10301;AAI48513;AAY41031;AAY41042;BAA91576;BAB15679;BAC03970;BAC05306;CAD97908;CAH56210;CAH56379;EAX05184;EAX05185;EAX05186;EAX05187;NP_001265533;NP_060548;NP_115615;NP_835144;Q659C4 Hs.657067 1684580;1769895;1775758;1785052;1847049;2126257;2127671;2143841;2153590 G01821;RH80069;SHGC-14401;SHGC-154468;SHGC-24749;SHGC-50527;SHGC-51061;STS-H96643;STS-X16707 DKFZp686L13217;LARP2;MGC117277;MGC75174 La ribonucleoprotein domain family, member 2;OTTHUMP00000164482;OTTHUMP00000219824;OTTHUMP00000219825;OTTHUMP00000219826;OTTHUMP00000219827;OTTHUMP00000219828;la ribonucleoprotein domain family member 2;la-related protein 1B;la-related protein 2 APPROVED protein-coding ENSG00000138709 24704 10963 REVIEWED 1321780 LARP4B La ribonucleoprotein domain family, member 4B This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012] 10 10 10 p15.3 805808 882035 - 845484 921702 - 855484 931702 - 737633;6480464 12477932 17081983;16964243;20573744;15489334;15164054;9039502;12388589;19299548;20138158;21145461;22586326;20379614;22939629;21139048;21890473;21906983;19322201 23185 B5MCU2;H0Y4V9;H0Y641;Q92615 ABBA01035262;AL157709;AL359878;AMYH01001974;BC003381;BC131630;BC152443;CH471072;CR749653;D86971;HY013410;NM_015155 AAH03381;AAI31631;AAI52444;BAA13207;CAH18446;EAW86530;EAW86531;NP_055970;Q92615 Hs.159069 1644402;1648041;1671849;1677622;1695016;1718453;1728055;1736052;2138944;2143037;2150864;2178546;2187464;5024409;5093882 A006M38;A009Y17;D10S1315E;D10S1324E;D10S1357E;D10S2271;G21398;G29158;G32979;G44721;G63298;RH122427;RH76373;RH79186;WI-13461 DKFZp686M23113;KIAA0217;LARP5;RP11-164C1.3 La ribonucleoprotein domain family, member 5;OTTHUMP00000018944;la ribonucleoprotein domain family member 5;la-related protein 4B;la-related protein 5 protein-coding ENSG00000107929 28987 13787 REVIEWED 1603686 LARP1 La ribonucleoprotein domain family, member 1 5 5 5 q33.2 150169448 150274651 + 154072655 154177358 + 154092462 154197165 + 6480464 17267499;21145461;17353931;17081983;16964243;15489334;15324660;15302935;15060081;14702039;12477932;10878606;9872452;19710015;22863883;22990118;22939629;19542561;22586326;17979178;22113938;22623428;23000965;19596686;20360068;21900206;21139048;21890473;21906983;19322201;21628590;22053931;22952844 23367 E5RH50;E5RHK4;H0YAN4;H0YAX9;H0YBJ5;H0YBM7;H0YBR8;H0YBW1;H0YC33;H0YC73;Q6PKG0 AB018274;ABBA01026222;ABBA01026223;ABBA01026224;ABBA01026225;ABBA01026226;ABBA01026227;ABBA01026228;ABBA01026229;AC008379;AC112169;AK091465;AK307554;AK312203;AL133034;AMYH01015730;BC001460;BC003063;BC010144;BC015573;BC033856;BC038220;BQ003824;BQ422667;CH471062;NM_015315 AAH01460;AAH33856;ABZ92312;ADZ15536;BAA34451;BAC03668;BAG35136;CAB61364;EAW61632;EAW61633;EAW61634;NP_056130;Q6PKG0 Hs.292078 1656684;1672164;1674320;1691320;1735474;1780996;1857498;2166489;5017722 1956;D5S1595E;D6S2372;LARP1;RH17791;RH69928;RH81060;STS-N33780;bac5638T KIAA0731;LARP;MGC19556 OTTHUMP00000160694;OTTHUMP00000225969;la-related protein 1 protein-coding ENSG00000155506 29531 11225 612059 VALIDATED 6483988 LARS2-AS1 LARS2 antisense RNA 1 3 p21.31 45524187 45551037 - 16344560 100885795 ABBA01024726;AC099539;AMYH01013130;DB017595;DB335501;NR_048543 Hs.641094 APPROVED miscrna 40796 VALIDATED 1603283 LARP4 La ribonucleoprotein domain family, member 4 12 12 12 q13.12 49590531 49670923 + 49080917 49160055 + 50794592 50873788 + 6480464 21145461;16682284;15572213;15498874;14702039;12477932;9110174;8619474;16344560;21098120;21832049;18781797;21139048;21693764;21890473;22586326;19322201;22505724 113251 E5RHZ8;E5RJH8;F8VNV1;F8VSA9;F8VXL0;F8VY40;F8VZ60;F8W1I4;F8W1Z5;Q6P4E2;Q71RC2;Q8TBL5;Q96J85 ABBA01031572;ABBA01031573;ABBA01031574;ABBA01031575;ABBA01031576;AC090058;AF131755;AF370416;AK055521;AK125113;AK291746;AL050205;AL832198;AL833272;AMYH01004453;AMYH01004454;AW002420;AY004310;BC017395;BC022377;BC032444;BC063479;BX647457;CH471111;CR936626;DB061954;NM_001170803;NM_001170804;NM_001170808;NM_052879;NM_199188;NM_199190;NR_033200 AAF86614;AAH17395;AAH22377;AAH63479;AAQ15252;ACE86572;ACE86666;ACE87255;ACE87350;BAB70940;BAC86052;BAF84435;CAI56769;EAW58139;EAW58140;EAW58141;EAW58142;EAW58143;EAW58144;EAW58145;EAW58146;EAW58147;EAW58148;NP_001164274;NP_001164275;NP_001164279;NP_443111;NP_954658;NP_954660;Q71RC2 Hs.26613 1744341;2136253;2170910;5093478;5491286 A009P30;D12S1872;G32742;GDB:451748;UniSTS:234689 DKFZp686E039;MGC74631;PP13296 OTTHUMP00000224649;OTTHUMP00000224650;OTTHUMP00000224651;OTTHUMP00000224652;OTTHUMP00000224663;OTTHUMP00000224664;OTTHUMP00000241154;c-Mpl binding protein;la-related protein 4 protein-coding ENSG00000161813 24320 17289 VALIDATED 1605069 LARP6 La ribonucleoprotein domain family, member 6 15 15 15 q23 48014786 48037397 - 68910943 68933552 - 71123889 71146498 - 6480464 22558309;17383118;17081983;15489334;14702039;12477932;18029348;19889961;19917293;21832049;21387291;22139627;21873549 55323 H0YMC6;K7EPD2;Q9BRS8 ABBA01038750;AC009269;AC090868;AF443828;AF443829;AK002058;AK130092;AL833876;AMYH01006749;BC006082;BC009446;BC014018;BC039153;BI913258;CH471082;NM_018357;NM_197958 AAH06082;AAH09446;AAH14018;AAH39153;AAN76710;AAN76711;BAA92061;CAD38733;EAW77860;EAW77861;NP_060827;NP_932062;Q9BRS8 Hs.416755 2119463 WI-19667 ACHN;FLJ11196 OTTHUMP00000164516;acheron;death-associated LA motif protein;la-related protein 6 protein-coding ENSG00000166173 24012 10966 611300 VALIDATED 1604813 LARP7 La ribonucleoprotein domain family, member 7 This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 4 4 4 q25 110852197 110872835 + 113777569 113798191 + 113558120 113578748 + 6480464 20410271;22586326;22865833;18483487;18281698;18249148;18191186;16344560;15146197;12477932;8889548;8125298;17643375;18029348;20332099;20811636;22113938;23455922;23455924;21832049;22863883;22990118;21853533;22488152;20360068;21900206;21957495;21145461;23340209;20471949;20562857;20683478;22190034;22567366 51574 D6R9Z6;D6RAF3;D6RBH8;D6RF22;D6RF49;D6RFF0;H0YA82;Q4G0J3 ABBA01063816;AC106864;AF068284;AI652351;AK000274;AK225900;AL049996;AMYH01014469;BC006981;BC066945;BC107709;BM979591;BX647100;CA314598;CH471057;CN346208;DB270203;EU667388;NG_032779;NM_001267039;NM_015454;NM_016648;NR_049768 AAF65503;AAH06981;AAH66945;AAI07710;ACD13786;CAB43230;EAX06282;EAX06283;EAX06284;EAX06285;NP_001253968;NP_056269;NP_057732;Q4G0J3 Hs.713663 1651799;2109381;5123663 G33497;HDCMA18P_9741;SHGC-35945 ALAZS;DKFZp564K112;HDCMA18P;MGC104360;PIP7S OTTHUMP00000163828;OTTHUMP00000219762;P-TEFb-interaction protein for 7SK stability;la-related protein 7 APPROVED protein-coding ENSG00000174720 24912 17095 612026;615071 REVIEWED 1312707 LARS leucyl-tRNA synthetase This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 5 5 q32 145472782 145542487 - 145492589 145562294 - 1580863;6480464;6907045 18446061;17378584;17363246;16344560;16055448;14702039;12477932;11829477;11181995;11042152;10913161;10718198;10200289;9878398;8125298;6933703;1651330;17353931;20562859;11714285;19426743;19702327;8052601;8078941;8188258;8449960;9278442;20805241;22863883;22939629;21081666;18781797;21139048;21890473;21906983;21628590;22424946;21145461;21319273;22607940;22190034;22505724 51520 B4DER1;B4DJ10;F5H698;Q9P2J5 AB037773;ABBA01026344;ABBA01026345;AC091887;AC091959;AF151026;AK000277;AK001457;AK001682;AK021413;AK023777;AK025441;AK095870;AK127009;AK225372;AK293750;AK295874;AK304134;AK315178;AL390155;AMYH01015681;AMYH01015682;AMYH01015683;AMYH01015684;AY513284;AY926480;BC068041;BC105581;BC110084;BC131798;BC150213;BC151214;BC152422;CH471062;CK902545;D84223;DB086913;NM_020117;U56252 AAF36112;AAH68041;AAI05582;AAI31799;AAI50214;AAI51215;AAI52423;AAT08037;AAX10025;BAA91702;BAA91833;BAA92590;BAA95667;BAB13817;BAB14674;BAG37619;BAG54421;BAG57172;BAG58672;BAG65028;CAB99091;EAW61848;EAW61849;EAW61850;NP_064502;Q9P2J5 Hs.432674 1688434;1697984;1757707;1780696;1785256;1785728;2174166;5015404;5015961;5016781;5020635;5020740;5022463;5022578;5024039;5037552;5037554 D15S1477;D16S325;D1S1423;D3S1673;D7S3207;D8S2279;D8S2282;L17705;L17809;RH102521;RH11474;SGC31858;SHGC-104997;SHGC-146339;SHGC-67307;SHGC-80759;bac51638T FLJ10595;FLJ21788;HSPC192;KIAA1352;LARS1;LEURS;LEUS;LRS;PIG44;RNTLS;hr025Cl OTTHUMP00000223912;OTTHUMP00000223913;cytoplasmic leucyl-tRNA synthetase;cytosolic leucyl-tRNA synthetase;leucine tRNA ligase 1, cytoplasmic;leucine translase;leucine--tRNA ligase;leucine--tRNA ligase, cytoplasmic;leucine-tRNA ligase;leucyl-tRNA synthetase, cytoplasmic;proliferation-inducing gene 44 APPROVED protein-coding ENSG00000133706 6512 01042 151350 REVIEWED 1318191 LARS2 leucyl-tRNA synthetase 2, mitochondrial This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008] 3 3 p21.3 45405079 45565332 + 45430075 45590328 + 1580863;6480464;6907045 12527375;19129950;18796578;15919814;15737668;15489334;15123417;12821328;12549915;12477932;10647888;9408748;7584028;7584026;1684970;20877624;10684970;19847392;20194621;15161933;21903180;23541342 23395 C9IZR7;C9JYR8;E9PHM2;Q15031 ABBA01024725;ABBA01024726;ABBA01024727;ABBA01024728;AC006515;AC092500;AC099539;AJ312685;AK025465;AK026113;AK308146;AMYH01013130;BC025989;BI463427;CH471055;D21851;NM_015340 AAH25989;ABM92170;ABW03301;BAA04877;CAC35916;EAW64740;NP_056155;Q15031 Hs.526975 1660487;1691016;1706796;1709708;1731365;2129575;2154865;2160255;2219892 D3S1358;D3S2354;LARS2__6372;RH25266;RH92625;SHGC-12886;SHGC-80871;SHGC-86343;STS-D21851 KIAA0028;LEURS;MGC26121;PRLTS4 OTTHUMP00000164232;OTTHUMP00000210279;OTTHUMP00000210280;leucine tRNA ligase 2, mitochondrial;leucine tRNA ligase 2, mitocondrial;leucine translase;probable leucine--tRNA ligase, mitochondrial;probable leucyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000011376 17095 05178 604544;615300 REVIEWED 6481277 LATS2-AS1 LATS2 antisense RNA 1 100874066 AL356285 APPROVED miscrna 39912 1354295 LAS1L LAS1-like (S. cerevisiae) X X X q12 65079606 65101830 - 64649191 64671392 - 64732462 64754686 - 737633;6480464 12477932 8125298;17353931;16964243;15772651;15635413;15489334;14702039;12429849;21145461;20442285;20647540;15960975;16344560;19394292;22190735;22939629;22990118;16196087;18029348;21987572;22083961;21628590;19471022;21139048;21549307;21693764;21890473;21906983;22318606;22586326;22505724 81887 Q9Y4W2;R4GNF7 ABBA01067022;AF116730;AK022587;AK054695;AK054817;AK074087;AK097383;AK125760;AK127207;AK225059;AK295591;AL050306;AMYH01022501;BC014545;BC018610;BC019302;CH471132;DA619280;DQ323624;DQ323625;DQ323626;NG_016369;NM_001170649;NM_001170650;NM_031206 AAH14545;AAH18610;AAH19302;AAO15306;ABD39127;ABD39128;ABD39129;BAB14114;BAB84913;BAG51428;BAG53459;BAG54243;BAH12117;EAX05401;EAX05402;EAX05403;EAX05404;NP_001164120;NP_001164121;NP_112483;Q9Y4W2 Hs.522675 1698498 RH102799 FLJ12525;FLJ30133;FLJ45274;Las1-like;RP3-475B7.2;dJ475B7.2 OTTHUMP00000023435;OTTHUMP00000023436;OTTHUMP00000023437;protein LAS1 homolog;ribosomal biogenesis protein LAS1L protein-coding ENSG00000001497 25726 06519 VALIDATED 1342944 LAT linker for activation of T cells The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 p11.2 28903648 28909605 + 28996147 29002104 + 1580863;6480464;6907045 9489702;16938345;12646565;15100278;14722116;11048639;11607830;17652306;19343046;19018007;18645037;18579528;17938199;17492476;16906159;16464244;16460687;16236370;16160011;15745852;15699071;15659558;15489334;15449076;15153499;15144186;15029250;14996932;14702039;14696041;12857726;12847255;12570875;12515827;12477932;12438705;12359715;12186560;12084069;12077228;12029091;11756537;11752630;11572860;11390470;11368773;11279207;11259588;10942756;10811803;10781611;10562325;10506192;10488157;10469124;10449770;10204488;10072481;10021361;9891970;9846483;9729044;9529333;8995379;10224278;9846481;15696170;22802418;21251717;18683785;20723025;20875087;16467851;19380807;19427038;19615732;20237496;8798643;21102463;20940326;21282648;19068093;21152094;21282515;17192395;22984075;21508261;21642986;23360572;22396725;22034845;21966541;14523017;15174051;21988832;23240581;23487428;23514740;22998346;8063801;19710135;19915061;20890395 27040 B7WPI0;C7C5T5;C7C5T6;C7C5T7;G5E9K3;H3BQD8;O43561 ABBA01045680;AC109460;AF036905;AF036906;AJ223280;AK093815;AK307342;AMYH01007480;BC011563;BI769296;BI911769;CH471267;FN432831;FN432832;FN432833;FN432834;NM_001014987;NM_001014988;NM_001014989;NM_014387 AAC39636;AAC39637;AAH11563;CAA11218;CBA11532;CBA11533;CBA11534;CBA11535;EAW52024;EAW52025;EAW52026;EAW52027;EAW52028;EAW52029;EAW52030;EAW52031;NP_001014987;NP_001014988;NP_001014989;NP_055202;O43561 Hs.632179 2183319;5015404;5022651 D11S2921;L17705;SHGC-61115 LAT1;pp36 36 kDa phospho-tyrosine adapter protein;36 kDa phospho-tyrosine adaptor protein;OTTHUMP00000162563;OTTHUMP00000162564;linker for activation of T cells, transmembrane adaptor;linker for activation of T-cells family member 1;p36-38 APPROVED protein-coding ENSG00000213658 18874 03832 602354 REVIEWED 68601 LASP1 LIM and SH3 protein 1 This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012] 17 17 q11-q21.3 34279894 34331541 + 37026112 37078023 + 1580863;6480464 7589475;19177205;17956604;17376794;16430883;16189514;16094384;15489334;15465019;15146197;15004028;14702039;12665801;12571245;12477932;12432067;9848085;9688835;7490069;20660701;18029348;19060904;19155088;19718473;20379614;20461080;20812987;20924110;20419088;22897902;22713668;21215099;17211471;20360068;21139048;21890473;21906983;21987572;21044950;22514729;23040864;19738201;23000965;23084841;23275563;20843712;22505724;22940702 3927 B4DGQ0;B4DIC4;C9J9W2;F6S2S5;J3KSN1;K7ESD6;Q14847 ABBA01031894;AC006441;AC110749;AK095958;AK289847;AK294704;AK295522;AK296092;AK307868;AK309933;AMYH01008370;BC007367;BC007560;BC012460;BQ961916;CH471152;CN371189;DC324561;DC333179;NM_001271608;NM_006148;NR_073384;X82456 AAH07560;AAH12460;ABM82465;ABM85654;BAF82536;BAG57861;BAG58436;BAG58846;CAA57833;EAW60543;EAW60544;EAW60545;NP_001258537;NP_006139;Q14847 Hs.741156 1339788;1669195;1790223;2160366;2167881 A008J32;CSSM15;D17S838;IB1521;RM186 Lasp-1;MLN50 LIM and SH3 domain protein 1;MLN 50;OTTHUMP00000164238;OTTHUMP00000164239;metastatic lymph node gene 50 protein APPROVED protein-coding ENSG00000002834 6513 04229 602920 REVIEWED 1349703 LATS1 large tumor suppressor kinase 1 The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. Two protein-coding transcripts and one non-protein coding transcript have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 q25.1 150023744 150081085 - 149979289 150039392 - 1580863;6480464 21212414;18158288;7829101;10518011;9988268;10831611;15220930;15122335;18640976;18413746;17049657;16061636;16007220;15746036;15688006;15489334;15302935;15144186;12624101;12477932;12379777;12372621;9988269;7743921;21145461;21383157;19739119;19799973;20048001;20453000;20508983;20936779;21233212;19927127;21832049;21139048;22909338;17130845;17379520;19962312;20841485;21041411;21822051;22195963;22641346;22623531;18328708;22078877;22863277;20407010;16674920;17889669;20624913;21555462 9113 H0YG09;O95835;Q6PJG3 ABBA01025674;ABBA01025675;ABBA01025676;ABBA01025677;AF104413;AF164041;AK310422;AL358852;AL583963;AMYH01016737;AW021064;BC002767;BC015665;BX276089;CH471051;NM_001270519;NM_004690;NR_073033 AAD16882;AAD50272;AAH02767;AAH15665;EAW47792;NP_001257448;NP_004681;O95835 Hs.549084 1707560;1767339;2118898;2219896 G17023;LATS1__6377;SHGC-84591;WIAF-1623 WARTS;wts LATS (large tumor suppressor, Drosophila) homolog 1;LATS, large tumor suppressor, homolog 1;OTTHUMP00000237239;OTTHUMP00000237240;WARTS protein kinase;h-warts;large tumor suppressor homolog 1;serine/threonine-protein kinase LATS1 APPROVED protein-coding ENSG00000131023 6514 09147 603473 REVIEWED 1314216 LATS2 large tumor suppressor kinase 2 This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008] 13 13 q11-q12 20445175 20533722 - 21547175 21635722 - 1580863;6480464 10871863;12853976;15131260;10673337;19008013;18927464;18565851;17049657;17015431;16564011;16413547;15746036;15688006;15265683;15147269;14702039;12477932;19919647;21118956;21245096;18158288;19501585;19739119;19799973;19855428;19937137;20335167;20379614;20508983;21041410;21498571;21278236;21233212;20932276;21952048;22020941;21822051;21832154;22098159;18413746;19322201;19797269;20841485;21041411;22286172;22863277;23111389;23267128;18640976;20624913 26524 Q59EB4;Q9NRM7 AB028019;AB209897;ABBA01068595;ABBA01068596;ABBA01068597;AF207547;AK123520;AK314235;AL161613;AL356285;AMYH01004952;AMYH01004953;BC036437;BC071572;BC127671;BQ774580;CH471075;DB452765;NM_014572 AAF80561;AAI56424;AAI72545;BAA92381;BAD93134;BAG36905;EAX08286;EAX08287;NP_055387;Q9NRM7 Hs.78960 2117775;5022200;5022578;5037552 D1S1423;D8S2279;L18426;SHGC-33925 FLJ13161;KPM LATS (large tumor suppressor, Drosophila) homolog 2;LATS, large tumor suppressor, homolog 2;OTTHUMP00000018106;kinase phosphorylated during mitosis protein;large tumor suppressor homolog 2;serine/threonine kinase KPM;serine/threonine-protein kinase LATS2;serine/threonine-protein kinase kpm;warts-like kinase APPROVED protein-coding ENSG00000150457 6515 07277 604861 REVIEWED 1342914 LAT2 linker for activation of T cells family, member 2 This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008] 7 7 q11.23 73262023 73282100 + 73624087 73644164 + 1549872;6480464 11003705 14722116;12514734;12486104;19343046;18645037;17993265;17277102;16713569;16160011;15745852;15489334;15153499;15010370;14702039;12853948;12477932;11124535;11042152;8812460;8808592;8125298;19183565;19808856;19879355;20643813;17192395;23000965;23001822;22269118;21139048;21890473 7462 C9JA24;C9JDY7;C9JXP0;F8W947;Q9GZY6 ABBA01063903;ABBA01063904;ABBA01063905;ABBA01063906;AC005081;AF045555;AF086239;AF161531;AF252611;AF252612;AF252613;AF252614;AF257135;AI492348;AK002099;AK092904;AK225150;AK290074;AK290916;AMYH01017543;AMYH01017544;AMYH01017545;AMYH01017546;AY190023;BC001609;BC006080;BC009204;BM468969;CH471200;NG_023256;NM_014146;NM_032463;NM_032464 AAF29018;AAF74978;AAF91352;AAH01609;AAH09204;AAK37429;AAK37430;AAK37431;AAK37633;AAO63155;AAS07404;AAS07405;ACE87022;ACE87709;BAA92084;BAF82763;BAF83605;BAG52627;EAW69609;EAW69610;EAW69611;EAW69612;EAW69613;EAW69614;NP_054865;NP_115852;NP_115853;Q9GZY6 Hs.741249 1669102;1769348;1774515;1790409;1849601;2108995;2180254;5024039;5037552 D16S325;D7S2101E;D7S2789;D7S3269;D8S2279;HSC10F112;SGC32507;SHGC-56095;WBSCR5_8726 HSPC046;LAB;NTAL;WBSCR15;WBSCR5;WSCR5 OTTHUMP00000160648;OTTHUMP00000179118;OTTHUMP00000179119;OTTHUMP00000212052;OTTHUMP00000213098;OTTHUMP00000233173;Williams-Beuren syndrome chromosome region 15;linker for activation of B cells;linker for activation of B-cells;linker for activation of T cells, transmembrane adaptor 2;linker for activation of T-cells family member 2;membrane-associated adapter molecule;non-T cell activation linker;non-T-cell activation linker;williams-Beuren syndrome chromosomal region 15 protein;williams-Beuren syndrome chromosomal region 5 protein APPROVED protein-coding ENSG00000086730 12749 09304 605719 REVIEWED 7245672 LBX1-AS1 LBX1 antisense RNA 1 (head to head) 14702039 399806 AA431734;ABBA01063204;AK096698;AK123344;AK294034;AL133387;AL135794;AMYH01003004;NR_029380 BAG57386 Hs.386143 1689881 RH92279 miscrna 48678 VALIDATED 1606285 LAX1 lymphocyte transmembrane adaptor 1 1 1 1 q32.1 176864509 176875721 + 202000960 202012123 + 203734284 203745500 + 6480464 12477932;12359715;18029348;18981125;15843560;15489334;14702039;8125298;19536175;22662118;22505724 54900 Q8IWV1 ABBA01027471;AC114402;AK000347;AK225331;AK301076;AK301421;AMYH01001657;AMYH01001658;AY090784;BC069650;BC089408;CH471067;DC414389;NM_001136190;NM_017773 AAH69650;AAH89408;AAM09818;BAA91101;BAG62682;BAH13480;EAW91489;EAW91490;EAW91491;NP_001129662;NP_060243;Q8IWV1 Hs.272794 1709172;2184051;5020946 D1S2087;L17971;SHGC-85748 FLJ20340;LAX LAT-like membrane associated protein;OTTHUMP00000034094;OTTHUMP00000034095;linker for activation of x cells;lymphocyte transmembrane adapter 1;membrane-associated adapter protein LAX protein-coding ENSG00000122188 26005 08312 VALIDATED 1604525 LAYN layilin 11 11 11 q23.1 108564419 108584973 + 110916443 110936998 + 111411233 111432470 + 6480464 11294894;15913605;15489334;14702039;12975309;12477932;9786953;23048036;21139048;16344560;23000965;23251661 143903 B4DJU0;E9PI98;E9PK64;E9PMI0;E9PQU7;E9PQY8;E9PR90;Q6UX15 ABBA01039819;AK055539;AK055654;AK293317;AK296231;AK298165;AMYH01004031;AP002008;AY358554;BC025407;CH471065;DA608521;DB006476;NM_001258390;NM_001258391;NM_178834 AAH25407;AAQ88918;BAB70946;BAB70978;BAG56836;BAG58952;BAG60438;EAW67143;EAW67144;EAW67145;NP_001245319;NP_001245320;NP_849156;Q6UX15 Hs.503831 FLJ30977;FLJ31092 OTTHUMP00000234053;OTTHUMP00000234054;OTTHUMP00000234055;OTTHUMP00000234057;layilin protein-coding ENSG00000204381 29471 17299 VALIDATED 1346881 LCA3 Leber congenital amaurosis 3 7240710 9799089 3789 6520 604232 1347766 LBP lipopolysaccharide binding protein The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012] 20 20 q11.23 36408299 36439067 + 36974814 37005653 + 1580863;6480464;6484113;6907045;7247704 22119168 11528597;2402637;12932360;2477488;8985160;8409400;11739189;9665271;18029348;19522765;19200604;19010986;18987746;18783308;18559343;18397383;18288274;18056918;18056482;16928689;16907704;16493079;16303759;15932345;15618154;15127192;14718574;12831460;12754215;12615620;12594207;12538700;12521224;12477932;12417309;12117913;11991204;11976738;11780052;11773072;11598069;11544322;11373419;10919979;10811873;10768924;10453023;10079194;9568897;9441745;9338787;9240454;9179291;8663389;8432532;7517398;7583357;19913121;20628086;16512634;19423540;19560454;19707138;19718443;20346360;20379614;20381257;20406964;20438785;20800603;20530747;20865702;21353369;21702700;21633598;23349936;21722015;21901123;21740312;22960476;21988832;23430250;22476641;22736337;23382691;22552880 3929 P18428;Q8TCF0 ABBA01052520;ABBA01052521;ABBA01052522;ABBA01052523;AF013512;AF105067;AK313625;AL080249;AMYH01011904;AMYH01011905;AY344471;BC022256;BQ028088;CH471077;L42172;M35533;NM_004139;X98657 AAA59493;AAA66446;AAC39547;AAD21962;AAH22256;AAR03787;ABM82320;ABM85360;BAG36385;CAA67226;CAC10462;EAW76033;EAW76034;NP_004130;P18428 Hs.154078 1788466;2160684;2217554 LBP_2743;RH11581;fa14e09.s1 BPIFD2;MGC22233 BPI fold containing family D, member 2;LPS-binding protein;OTTHUMP00000030965;lipopolysaccharide-binding protein APPROVED protein-coding ENSG00000129988 6517 07175 151990 REVIEWED 1347358 LBX2 ladybird homeobox 2 2 2 2 p13.1 74555808 74561607 - 74578152 74583951 - 74724644 74730443 - 6480464 12477932;11386758;9847074 85474 G3V218;Q6XYB7 ABBA01075602;AC005041;AMYH01010454;AY203953;AY305861;BC150517;CH471053;NM_001009812 AAI50518;AAI60076;AAP34476;AAP74384;EAW99636;NP_001009812;Q6XYB7 Hs.516124 1670276;1672312 RH70325;STS-AA037704 LP3727 OTTHUMP00000202660;OTTHUMP00000243937;lady bird-like homeobox 2;lady bird-like homeobox 2 (drosophila);ladybird homeobox homolog 2;ladybird homeobox protein homolog 2;ladybird-like homeobox 2;ladybird-like homeodomain protein 2;transcription factor LBX2 protein-coding ENSG00000179528 15525 16235 607164 PROVISIONAL 1604281 LBH limb bud and heart development 2 2 2 p23.1 30288761 30325820 + 30307901 30336403 + 30454397 30482899 + 6480464 19240061;18391951;17390236;16381901;16094384;15958514;15489336;14702039;12477932;11336496;11230166;11181995;11076863;8889548;8125298;20546612;20606007;21383967;18029348;20587334;17192395;21810271 81606 B5MBX5;B5MC28;B5MCM2;B5MCP4;F8WC18;Q53QV2 ABBA01074839;AC104698;AF110224;AF258555;AI302040;AK023425;AK027232;AK092206;AK223541;AK314598;AL136703;AMYH01010214;BC012373;BC109376;BC126434;BC130415;BU687531;CH471053;CN485291;EF025586;NM_030915 AAG23758;AAI09377;AAI26435;AAI30416;AAL36912;AAY24349;ABK30936;ADR83474;BAD97261;BAG37169;CAB66638;CAL37943;CAL38159;NP_112177;Q53QV2 Hs.567598;Hs.593113 1644285;1644287;1780042;2144726 A001X24;A005C12;G19750;SHGC-154296 DKFZp566J091;MGC104312;MGC163287 OTTHUMP00000201112;OTTHUMP00000201113;hLBH;limb bud and heart development homolog;protein LBH APPROVED protein-coding ENSG00000213626 29532 13965 611763 VALIDATED 1349719 LCCS1 lethal congenital contracture syndrome 1 7240710 9683599 8012 30995 253310;611890 1345859 LCE1A late cornified envelope 1A LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009] 1 1 1 q21.3 125870205 125870537 + 151066573 151066905 + 152799949 152800573 + 16710414;15854049;11698679 353131 Q5T7P2 ABBA01049426;AL162596;AMYH01001401;CH471121;NM_178348 AAI46368;AAI53156;EAW53362;NP_848125;Q5T7P2 Hs.534645 2220498 UniSTS:483578 LEP1 OTTHUMP00000014400;late cornified envelope protein 1A;late envelope protein 1 APPROVED protein-coding ENSG00000186844 29459 13966 612603 VALIDATED 1602293 LBX2-AS1 LBX2 antisense RNA 1 2 2 2 p13.1 74560908 74563356 + 74582976 74585700 + 74729744 74732192 + 6480464 14702039;12477932;11181995 151534 ABBA01075602;AC005041;AK096725;AK125271;AMYH01010454;BC009264;BC101224;BC101225;BC101226;BC101227;CH471053;NR_024606 EAW99634;EAW99635 Hs.745121 1670276;1672312;5493167 RH70325;STS-AA037704;UniSTS:484522 MGC120166 APPROVED miscrna ENSG00000257702 25136 14091 PREDICTED 1344293 LCE1C late cornified envelope 1C 1 1 1 q21.3 125847567 125849363 - 151043935 151045731 - 152777311 152779107 - 6480464 16710414;15854049;11698679;20379614;20643763 353133 Q5T751 ABBA01049426;AL353779;AMYH01001401;CH471121;NM_001276331;NM_178351 AAI40395;AAI46478;EAW53364;EAW53365;NP_001263260;NP_848128;Q5T751 Hs.516429 2155100;5493833 STS-AA029647;UniSTS:495188 LEP3 OTTHUMP00000014399;late cornified envelope protein 1C;late envelope protein 3 protein-coding ENSG00000197084 29464 13967 612605 VALIDATED 1606568 LBX1 ladybird homeobox 1 This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008] 10 10 10 q24 96724401 96726385 - 102976723 102978707 - 102986733 102988717 - 6480464 8645601;19651985;15489334;15164054;12913067;12477932;11309850;7518789;16600870;22019779;22301463;23308168;23096252 10660 P52954;Q6LBH2 ABBA01063204;AJ004949;AL135794;AMYH01003004;BC069156;BC136321;CH471066;NG_009236;NM_006562;X74863;X90828 AAH69156;AAI36322;CAA06237;CAA52856;CAA62342;EAW49777;NP_006553;P52954 Hs.37128 5492715 UniSTS:482114 HPX-6;HPX6;LBX1H;homeobox OTTHUMP00000180669;lady bird-like homeobox;ladybird homeobox homolog 1;ladybird homeobox protein homolog 1;transcription factor LBX1;transcription factor similar to D. melanogaster homeodomain protein lady bird late APPROVED protein-coding 16960 09178 604255 REVIEWED 1354412 LCE1D late cornified envelope 1D 1 1 q21.3 151035851 151037281 + 152769227 152770657 + 6480464 16710414;15854049;11698679 353134 Q5T752 ABBA01006071;AL353779;AMYH01001401;BG697954;NM_178352 AAI60112;NP_848129;Q5T752 Hs.490235 2220500 UniSTS:483579 LEP4 OTTHUMP00000014398;late cornified envelope protein 1D;late envelope protein 4 protein-coding ENSG00000172155 29465 13968 612606 VALIDATED 1346167 LCE1F late cornified envelope 1F 1 1 1 q21.3 125826923 125827279 + 151015472 151015828 + 152748848 152749445 + 6480464 16710414;15854049;11698679;18316326 353137 Q5T754 ABBA01049425;AL353779;AMYH01001401;CH471121;NM_178354 AAI40331;AAI46482;BAG73340;EAW53368;NP_848131;Q5T754 Hs.553712 LEP6 OTTHUMP00000016098;late cornified envelope protein 1F;late envelope protein 6 protein-coding ENSG00000240386 29467 13970 612608 VALIDATED 1342802 LCE1E late cornified envelope 1E 1 1 1 q21.3 125836828 125838902 + 151025377 151027526 + 152758753 152760902 + 737633;6480464 12477932 16710414;15854049;11698679 353135 Q5T753 ABBA01001851;AL353779;AMYH01001401;BC038391;CH471121;NM_178353 AAI60110;EAW53366;EAW53367;NP_848130;Q5T753 Hs.250236 2220500 UniSTS:483579 LEP5 OTTHUMP00000014335;OTTHUMP00000014397;late cornified envelope protein 1E;late envelope protein 5 protein-coding ENSG00000186226 29466 13969 612607 VALIDATED 1349264 LCE1B late cornified envelope 1B 1 1 1 q21.3 125854703 125855841 + 151051071 151052209 + 152784447 152785585 + 6480464 16710414;15854049;12477932;11698679 353132 Q5T7P3 ABBA01049426;AL162596;AMYH01001401;BC031811;BC104232;BC104233;BC133657;CH471121;NM_178349 AAI04233;AAI04234;EAW53363;NP_848126;Q5T7P3 Hs.375103 2220632 UniSTS:486661 LEP2;SPRL2A OTTHUMP00000016119;late cornified envelope protein 1B;late envelope protein 2;small proline rich-like (epidermal differentiation complex) 2A;small proline-rich-like epidermal differentiation complex protein 2A protein-coding ENSG00000196734 16611 17259 612604 VALIDATED 1345568 LCA5L Leber congenital amaurosis 5-like 21 21 21 q22.2 25975464 26013823 - 39699640 39737998 - 40777770 40816128 - 6480464 17546029;15489334;12477932;10830953 150082 C9J198;C9J293;C9J5D2;C9J9Z3;C9JFB6;C9JIJ8;C9JRD7;C9JYR0;O95447 ABBA01009337;AF121781;AL163279;AMYH01012251;AMYH01012252;BC026122;BC031059;BC043006;BX647793;BX648744;CH471079;NM_152505 AAD12066;AAH31059;AAH43006;CAB90455;EAX09641;EAX09642;EAX09643;EAX09644;NP_689718;O95447 Hs.517284 1675377;1689354;1793990;1808542;1808628;1810868;1811554;1813200;1813348;1813416;1814006;1814722;1815712;1817326;1818018;1818518;1818520;1821228;1821484;1821556;1823076;1824124;1825692;1826100;1826282;1831008;1831130;1831998;1832930;1833826;1835808;1836722;1837364;1838332;1846016;1857740;1899310;1899312;1899314;1899316;1899318;1899320;1899322;1899324;1899326;1899328;1899330;1899332;1899334;1899336;1899338;1899340;1899342;1899344;1899346;1899348;1899350;1899352;1899354;1899356;1899358;1899360;1899362;1899364;1899366;1899368;1899370;1899372;1899374;1899376;1899378;1899380;1899382;1899384;1899386;1899388;1899390;1899392;1899394;1899396;1899398;1899400;1899402;1899404;1899406;1899408;1899410;1899412;1899414;1899416;1899418;1899420;1899422;1899424;1899426;1899428;1899430;1899432;1899434;1899436;1899438;1899440;1899442;1899444;1899446;1899448;1899450;1899452;1899454;1899456;1899458;1899460;1899462;1899464;1899466;1899468;1899470;1899472;1899474;1899476;1899478;1899480;1899482;1899484;1899486;1899488;1899490;1899492;1899494;1899496;1899498;1899500;1899502;1899504;1899506;1899508;1899510;1899512;1899514;1899516;1899518;1899520;1899522;1899524;1899526;1899528;1899530;1899532;1899534;1899536;1899538;1899540;1899542;1899544;1899546;1899548;1899550;1899552;1899554;1899556;1899558;1899560;1899562;1899564;1899566;1899568;1899570;1899572;1899574;1899576;1899578;1899580;1899582;1899584;1899586;1899588;1899590;1899592;1899594;1899596;1899598;1899600;1899602;1899604;1899606;1899608;1899610;1899612;1899614;1899616;1899618;1899620;1899622;1899624;1899626;1899628;1899630;1899632;1899634;1899636;1899638;1899640;1899642;1899644;1899646;1899648;1899650;1899652;1899654;1899656;1899658;1899660;1899662;1899664;2184192;2203206;2203208;2203210;2203212;2203214;2203216;2203218;2203220;2203222;2203224;2203226;2203228;2203230;2203232;2203234;2203236;2203238;2203240;2203242;2203244;2203246;2203248;2203250;2203252;2203254;2203256;2203258;2203260;2203262;2203264;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;ECD05253;ECD05296;ECD06432;ECD06780;ECD07620;ECD07695;ECD07729;ECD08030;ECD08392;ECD08894;ECD09713;ECD10065;ECD10321;ECD10322;ECD11691;ECD11826;ECD11864;ECD12626;ECD13158;ECD13954;ECD14159;ECD14253;ECD16640;ECD16701;ECD17137;ECD17606;ECD18059;ECD19065;ECD19525;ECD19849;ECD20340;ECD24228;G34554;PMC310729P1;REN20453;REN20454;REN20455;REN20456;REN20457;REN20458;REN20459;REN20460;REN20461;REN20462;REN20463;REN20464;REN20465;REN20466;REN20467;REN20468;REN20469;REN20470;REN20471;REN20472;REN20473;REN20474;REN20475;REN20476;REN20477;REN20478;REN20479;REN20480;REN20481;REN20482;REN20483;REN20484;REN20485;REN20486;REN20487;REN20488;REN20489;REN20490;REN20491;REN20492;REN20493;REN20494;REN20495;REN20496;REN20497;REN20498;REN20499;REN20500;REN20501;REN20502;REN20503;REN20504;REN20505;REN20506;REN20507;REN20508;REN20509;REN20510;REN20511;REN20512;REN20513;REN20514;REN20515;REN20516;REN20517;REN20518;REN20519;REN20520;REN20521;REN20522;REN20523;REN20524;REN20525;REN20526;REN20527;REN20528;REN20529;REN20530;REN20531;REN20532;REN20533;REN20534;REN20535;REN20536;REN20537;REN20538;REN20539;REN20540;REN20541;REN20542;REN20543;REN20544;REN20545;REN20546;REN20547;REN20548;REN20549;REN20550;REN20551;REN20552;REN20553;REN20554;REN20555;REN20556;REN20557;REN20558;REN20559;REN20560;REN20561;REN20562;REN20563;REN20564;REN20565;REN20566;REN20567;REN20568;REN20569;REN20570;REN20571;REN20572;REN20573;REN20574;REN20575;REN20576;REN20577;REN20578;REN20579;REN20580;REN20581;REN20582;REN20583;REN20584;REN20585;REN20586;REN20587;REN20588;REN20589;REN20590;REN20591;REN20592;REN20593;REN20594;REN20595;REN20596;REN20597;REN20598;REN20599;REN20600;REN20601;REN20602;REN20603;REN20604;REN20605;REN20606;REN20607;REN20608;REN20609;REN20610;REN20611;REN20612;REN20613;REN20614;REN20615;REN20616;REN20617;REN20618;REN20619;REN20620;REN20621;REN20622;REN20623;REN20624;REN20625;REN20626;REN20627;REN20628;REN20629;REN20630;RH94177;SHGC-32517;SHGC-6832;stSG622756;stSG622757;stSG622758;stSG622759;stSG622760;stSG622761;stSG622762;stSG622763;stSG622764;stSG622765;stSG622766;stSG622767;stSG622768;stSG622769;stSG622770;stSG622772;stSG622773;stSG622774;stSG622775;stSG622776;stSG622777;stSG622778;stSG622779;stSG622780;stSG622781;stSG622782;stSG622783;stSG622784;stSG622785;stSG622786 C21orf13;MGC33295 Lebercilin-like protein;OTTHUMP00000069084;OTTHUMP00000069085;leber congenital amaurosis 5-like protein protein-coding ENSG00000157578 1255 10742 VALIDATED 1318396 LCA5 Leber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] 6 6 q14.1 80251427 80303866 - 80194708 80247147 - 6480464;7240710 18334959;19172513;18000884;17546029;16082399;15489334;14574404;12642313;12477932;10631161;19503738;19800048;8889548;21850168;21302353;20301475;23509613 167691 Q86VQ0 ABBA01040410;ABBA01040411;AK299314;AL391840;AL832214;BC050327;BE883302;BX648161;CF890814;CH471051;NG_016011;NM_001122769;NM_181714 AAH50327;ADZ15609;BAG61324;EAW48705;EAW48706;NP_001116241;NP_859065;Q86VQ0 Hs.21945 1704714;1849707;2163612;2164005;2164007 A002Y30;A005V06;G20527;RH46625;SHGC-79017 C6orf152 Lebercilin;OTTHUMP00000016774;OTTHUMP00000165989;leber congenital amaurosis 5 protein APPROVED protein-coding ENSG00000135338 31923 10791 604537;611408 REVIEWED 736984 LBR lamin B receptor The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 q42.1 223655827 223683142 - 225589204 225616557 - 1600215;2316868;2316857;6480464;7240710 12118250;12668600;16876788 8157662;12618959;15698635;15882967;15489334;15324660;14718546;14702039;14701833;14617022;12490533;12490158;12477932;12438562;11846796;11034899;10828963;10744724;10390541;10049757;9878250;9169472;9003786;8838815;8663349;8157663;8125298;7679672;2847165;17353931;16344560;21103616;19913121;20628086;19331822;19645629;19940018;20576617;19454010;22939629;21327094;21326950;21795390;22052904;23000965;21252943;21139048;21890473;21906983;21987572;17274640;21327084;17620599;22354994;18029348;17725712;23382691;22505724;22581323 3930 C9JES9;C9JXK0;H7C108;H7C442;Q14739 AB209514;ABBA01009674;AC092811;AK125116;AK222834;AK303589;AK312258;AMYH01001772;AU134026;AW504657;BC020079;BE243907;CH471098;CQ834832;DA447510;DB091880;L25931;L25937;L25941;NG_008099;NM_002296;NM_194442 AAA59494;AAA59495;AAH20079;ABM81975;ABM85153;BAD92751;BAD96554;BAG35190;BAG64605;CAH05631;EAW69741;EAW69742;EAW69743;NP_002287;NP_919424;Q14739 Hs.435166;Hs.735694 1645884;1654149;1700402;1705142;2110485;2122944;5037552 D8S2279;LBR_8434;RH103821;RH64516;SHGC-12892;SHGC-76434;SHGC-80004 DHCR14B;FLJ43126;LMN2R;MGC9041;PHA;TDRD18 OTTHUMP00000035631;integral nuclear envelope inner membrane protein;lamin-B receptor;tudor domain containing 18 APPROVED protein-coding ENSG00000143815 6518 02488 169400;215140;600024;613471 REVIEWED 737383 LCAT lecithin-cholesterol acyltransferase This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008] 16 16 q22.1 66531288 66535516 - 67973787 67978015 - 1581773;1581787;1600654;1581779;1581780;1581769;1581781;1581778;1580863;6480464;6907045;7240710 16640830;12935429;16258026;12673583;12139471;15280162;11966470;16061733 1587806;11435418;3458198;4335615;10559507;12167653;15210842;3104518;19336370;19306528;19060910;19060906;18996102;18823627;18782872;18719109;18676680;18485513;18397721;18193043;18178167;17855807;17711302;17526537;17357073;17272829;17216278;17206937;17113061;16883530;16780378;16770077;16543491;16542392;16335952;16216249;16115486;16051254;15994445;15936482;15544352;15489334;15472210;15297675;15115696;15110745;15102891;14718574;14651331;12966036;12957688;12573451;12477932;12417987;12174215;12051518;12048121;12032172;11882335;10858436;9162740;8807342;8675648;8432868;8326012;8318557;7711728;7613477;7607641;6624548;6078131;3797244;3674753;2880847;2823898;2823801;2370048;2052566;1859405;1737840;1681161;1662503;1644835;1571050;1516702;1468226;806250;22189200;19913121;20571754;20628086;20634891;20679960;15654758;18922527;19170196;19515369;19625176;19671930;19687369;19692168;19698944;19800416;19878569;19948975;20031551;20160193;20167577;9829992;20714348;20855565;20972250;20864672;21347282;20890173;20884842;22326749;23023370;21659329;21315357;22133847;21600519;21597230;21798542;22090275;10722751;22418575;10222237;23078883;21822774;20686565;21901787;23132909;21875686;23142243 3931 I3L0J6;I3L1Q6;I3L215;I3L3R0;J3QKT0;J3QSE5;P04180 ABBA01025467;AC040162;AF140503;AMYH01007754;AY422210;BC014781;BT009748;CH471092;M12625;M17959;M26268;NG_009778;NM_000229;S74079;X04981;X06537 AAA59498;AAA59499;AAA59500;AAB20750;AAD28484;AAH14781;AAP88750;AAR03499;CAA28651;CAB56610;EAW83190;NP_000220;P04180 Hs.387239 1677604;1741357;1741601;1776732;1798164;1853812;5021682;5123001 G11801;GDB:180918;GDB:181557;RH70676;RH79953;SHGC-61154;SLC12A4_2007;ksks15 OTTHUMP00000174856;lecithin cholesterol acyltransferase;phosphatidylcholine-sterol acyltransferase;phospholipid-cholesterol acyltransferase APPROVED protein-coding ENSG00000213398 6522 06098 136120;245900;606967 REVIEWED 1351409 LCE2A late cornified envelope 2A 1 1 1 q21.3 125748904 125749982 + 150937464 150938542 + 152670840 152671918 + 6480464 16710414;15854049;12477932;11698679;11329013 353139 Q5TA79 ABBA01049425;AL139247;AMYH01001401;BC119707;BC127647;BG217525;CH471121;JB025800;NM_178428 AAI19708;CCV20018;EAW53371;NP_848515;Q5TA79 Hs.334054 LEP9 OTTHUMP00000014329;late cornified envelope protein 2A;late envelope protein 9 protein-coding ENSG00000187173 29469 13971 612609 VALIDATED 1347147 LCE2B late cornified envelope 2B This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008] 1 1 1 q21 125736662 125737940 + 150925223 150926501 + 152658599 152659877 + 6480464 9344646;15854049;11698679;11329013;12477932 26239 O14633 ABBA01049425;AF005080;AF086289;AL139247;AMYH01001401;BC117235;BC117237;BG211939;CH471121;JB025798;NM_014357 AAB83960;AAI46414;CCV20017;EAW53372;NP_055172;O14633 Hs.234766 2109463;2129638;5492613;5492893 LCE2B_9475;SHGC-57859;UniSTS:481796;UniSTS:483178 LEP10;SPRL1B;XP5 OTTHUMP00000014334;late cornified envelope protein 2B;late envelope protein 10;skin-specific protein Xp5;small proline rich-like (epidermal differentiation complex) 1B;small proline-rich-like epidermal differentiation complex protein 1B APPROVED protein-coding ENSG00000159455 16610 17260 612610 REVIEWED 1344616 LCE2C late cornified envelope 2C 1 1 1 q21.3 125725834 125727113 + 150914395 150915674 + 152647771 152649050 + 6480464 16710414;15854049;11698679;12477932 353140 Q5TA81 ABBA01049424;AL139247;AMYH01001401;BC125197;CH471121;NM_178429 AAI60113;EAW53373;NP_848516;Q5TA81 Hs.553713 LEP11 OTTHUMP00000014326;late cornified envelope protein 2C;late envelope protein 11 protein-coding ENSG00000187180 29460 13972 612611 VALIDATED 1347104 LCE2D late cornified envelope 2D 1 1 1 q21.3 125713937 125715200 + 150902496 150903759 + 152635872 152637135 + 6480464 16710414;15854049;11698679;12477932 353141 Q5TA82 ABBA01049424;AL139247;AMYH01001401;AW300079;BC130603;BC130605;CH471121;NM_178430 AAI30604;AAI30606;EAW53374;NP_848517;Q5TA82 Hs.490225 LEP12;SPRL1A OTTHUMP00000016117;late cornified envelope protein 2D;late envelope protein 12;small proline rich-like (epidermal differentiation complex) 1A;small proline-rich-like epidermal differentiation complex protein 1A protein-coding ENSG00000187223 16518 17261 612612 VALIDATED 1352803 LCE5A late cornified envelope 5A 1 1 1 q21.3 125594141 125595474 + 150749944 150751277 + 152483320 152484653 + 6480464 16710414;15854049;11698679;19601998;19896111 254910 Q5TCM9 ABBA01049418;AL135842;AMYH01001399;AW291010;CH471121;NM_178438 AAI40435;AAI56867;EAW53380;NP_848525;Q5TCM9 Hs.516410 2219714;2220466;5493809 SPRL5A__5301;UniSTS:483006;UniSTS:494910 LEP18;SPRL5A OTTHUMP00000016118;late cornified envelope protein 5A;late envelope protein 18;small proline rich-like (epidermal differentiation complex) 5A;small proline-rich-like epidermal differentiation complex protein 5A protein-coding ENSG00000186207 16614 17265 612619 VALIDATED 1348988 LCE3A late cornified envelope 3A 1 1 1 q21.3 125673374 125673643 - 150861934 150862203 - 152595310 152595579 - 6480464 16710414;15854049;12477932;11698679;18316326;19169255;19601998 353142 Q5TA76 ABBA01049423;AL139247;AMYH01001401;BC120933;BC120934;CH471121;NM_178431 AAI52958;BAI46950;EAW53376;NP_848518;Q5TA76 Hs.553714 LEP13;MGC184217 OTTHUMP00000016103;late cornified envelope protein 3A;late envelope protein 13 protein-coding ENSG00000185962 29461 13973 612613 VALIDATED 1343793 LCE6A late cornified envelope 6A 1 1 1 q21.3 125885590 125886719 + 151082621 151083082 + 152815330 152816459 + 15854049;11329013 448835 A0A183 ABBA01049426;AL162596;AMYH01001401;BG210316;CS300793;DQ991251;NM_001128600 A0A183;ABJ55982;CAK32457;NP_001122072 Hs.62927 C1orf44 OTTHUMP00000210240;chromosome 1 open reading frame 44;late cornified envelope protein 6A protein-coding ENSG00000235942 31824 VALIDATED 1353715 LCEP1 late cornified envelope pseudogene 1 1 1 1 q21.3 125794856 125795163 + 150983399 150983706 + 152716775 152717082 + 15854049 450208 ABBA01049425;AL353779;AMYH01001401;NG_006116 pseudo 31806 INFERRED 1342794 LCEP2 late cornified envelope pseudogene 2 1 1 1 q21.3 125788075 125788425 + 150976618 150976968 + 152709994 152710344 + 15854049 450209 ABBA01049425;AL353779;AMYH01001401;NG_006117 pseudo 31807 INFERRED 1346595 LCEP3 late cornified envelope pseudogene 3 1 1 1 q22 125706873 125707052 + 150895432 150895835 + 152628808 152628987 + 15854049 450211 ABBA01049424;AL139247;AMYH01001401;NG_006119 pseudo 31809 INFERRED 1346486 LCE3B late cornified envelope 3B 1 1 1 q21.3 122904018 122904305 + 150852911 150853198 + 152586287 152586574 + 6480464 19169253;16710414;15854049;12477932;11698679;21711330;20016497;20213803;20331852;20376060;20624365;22926764;21107349;21435436;21995181;21628307;21400479;21509048;22512642;22048733;22384135 353143 Q5TA77 ABBA01049423;AL139247;CH878618;NM_178433 AAI60117;EAW50651;NP_848520;Q5TA77 Hs.553715 LEP14 OTTHUMP00000016102;late cornified envelope protein 3B;late envelope protein 14 protein-coding ENSG00000187238 29462 13974 612614 VALIDATED 1348136 LCEP4 late cornified envelope pseudogene 4 1 1 1 q21.3 125694934 125695258 - 150883493 150883817 - 152616869 152617193 - 15854049 450210 ABBA01049423;AL139247;AMYH01001401;NG_006118 pseudo 31808 INFERRED 1343921 LCE3C late cornified envelope 3C 1 1 1 q21.3 122890869 122891293 + 150839832 150840116 + 152573138 152573562 + 6480464 19169253;16710414;15854049;12477932;11698679;21711330;20624365;20016497;20213803;20331852;20376060;21107349;21435436;21400479;21995181;21509048;21628307;22048733;22384135;22512642;22926764 353144 Q5T5A8 ABBA01049423;AL139247;AL356426;BC130365;BC130367;CH878618;NM_178434 AAI30366;AAI30368;ADR82782;EAW50650;NP_848521;Q5T5A8 Hs.490211 LEP15;SPRL3A OTTHUMP00000016120;late cornified envelope protein 3C;late envelope protein 15;small proline rich-like (epidermal differentiation complex) 3A;small proline-rich-like epidermal differentiation complex protein 3A protein-coding ENSG00000244057 16612 17262 612615 VALIDATED 1346899 LCE3E late cornified envelope 3E 1 1 1 q21.3 125648938 125650056 - 150804754 150805872 - 152538130 152539248 - 6480464 16710414;15854049;11698679;19721433;12477932;20585627 353145 Q5T5B0 ABBA01049418;AL356426;AMYH01001400;BC131716;CH471121;NM_178435 AAI31717;EAW53378;NP_848522;Q5T5B0 Hs.490208 LEP17 OTTHUMP00000014330;late cornified envelope protein 3E;late envelope protein 17 protein-coding ENSG00000185966 29463 13975 612617 VALIDATED 1352688 LCE3D late cornified envelope 3D 1 1 1 q21 125662668 125663788 - 150818484 150819604 - 152551860 152552980 - 6480464 19169255;16710414;15854049;15489334;12477932;11698679;20953190;21208785 84648 Q0VAS7;Q9BYE3 AB048288;ABBA01049418;AL356426;AMYH01001400;BC069291;BC101784;BC120935;BC120936;CH471121;NM_032563 AAH69291;AAI01785;AAI20936;AAI20937;BAB40643;EAW53377;NP_115952;Q9BYE3 Hs.244349 5492969;5493999 UniSTS:480714;UniSTS:483458 LEP16;MGC126833;SPRL6A;SPRL6B OTTHUMP00000014324;late cornified envelope protein 3D;late envelope protein 16;small proline rich-like (epidermal differentiation complex) 6A;small proline rich-like (epidermal differentiation complex) 6B;small proline-rich-like epidermal differentiation complex protein 6A;small proline-rich-like epidermal differentiation complex protein 6B protein-coding ENSG00000163202 16615 17263 612616 VALIDATED 1345430 LCE4A late cornified envelope 4A 1 1 1 q21.3 125759587 125759992 + 150948147 150948534 + 152681523 152681910 + 6480464 16710414;15854049;15489334;12477932;11698679 199834 Q5TA78 ABBA01049425;AL139247;AMYH01001401;BC113446;BC113448;CH471121;NM_178356;XM_003960896 AAI13447;AAI13449;ADR82790;EAW53370;NP_848133;Q5TA78;XP_003960945 Hs.447955 1713009;2220486 RH120595;UniSTS:483538 LEP8;SPRL4A OTTHUMP00000016107;late cornified envelope protein 4A;late envelope protein 8;small proline rich-like (epidermal differentiation complex) 4A;small proline-rich-like epidermal differentiation complex protein 4A protein-coding ENSG00000187170 16613 17264 612618 VALIDATED 1344945 LCK lymphocyte-specific protein tyrosine kinase This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants, encoding the same protein, have been described. [provided by RefSeq, Jul 2008] 1 1 p34.3 32489427 32524353 + 32716840 32751766 + 1600225;1580863;1600221;2316557;5131492;6480464;6484113;6907045 14507881;16828835;17711737;15380937 17382937;17118402;17078813;17008721;17005671;16888650;16860758;16769579;16740747;16600997;16474166;16446405;16354835;16344560;16339550;16274251;16257509;16219325;16185072;16107303;16099425;15967991;15958529;15867154;15751964;15687496;15641485;15331563;15322115;15263807;15199125;15163734;15144186;15096483;15016553;17897956;17897955;14766232;14757743;14702039;14699120;14688329;14623872;14610044;14583609;14534291;14523017;14500983;12923183;12899942;12837766;12835311;12817007;12755691;12734017;12697812;12645944;12637327;12589038;12570875;12565834;12560083;12538589;12527887;12496362;12485116;12477932;12468540;12429743;12401726;12370810;12359715;12237775;12186560;12181444;12171035;12100025;12055221;12036857;12007789;11904433;11855827;11854499;11839738;11741956;11741929;11741599;11591716;11572860;11389730;11381116;11369760;11351273;11298344;11294897;11294838;11278738;11075717;11067948;10975838;10921922;10880360;10825200;10816433;10799879;10799874;10799545;10790433;10764799;10748115;10733577;10669745;10652356;10636863;10617656;10574931;10553045;10488096;10482988;10455176;10447714;10430626;10358157;10330160;10318843;10214954;10209036;9973453;9973379;9880255;9792645;9790917;9788619;9751747;9741627;9712716;10896916;9710204;9687533;7961936;7896837;7690989;7682059;7545683;7543024;7539106;7539035;7513045;7512963;7495859;3493153;3489486;3265417;3257410;2850479;2835736;2787474;2558056;2115123;2047859;1988541;1709155;1638019;1500851;1385527;214242;8671590;9989602;1548763;1535787;9344703;9269777;9043947;8883579;9621091;7774645;7539724;8648738;7680610;1622897;12628756;8887682;2040625;1535086;1491632;8870842;7494315;9123823;9036944;7522245;9341793;10422873;15371598;15186530;10208934;8871625;7871751;7831289;7853525;10364375;9075929;15976924;15638726;15078178;14965316;10642173;10544125;9705913;7859737;15892963;11525746;8246987;1351058;9624175;9573028;11431473;8910285;8294442;10449731;10383400;15980863;15671290;7486703;2470098;7852312;8794306;7513706;8650207;14625311;15554700;7504174;16245368;8618896;8506364;1579166;16116473;11739864;12884910;8943371;12614355;18029348;2014052;12732664;11048639;11827988;15489916;17652306;19439470;19201869;19201754;19192391;19168706;19109140;18991294;18792408;18714047;18541536;18424699;18314490;17998336;17932036;17910071;10918587;9685404;9664084;9488700;9461588;9446569;9403695;9341123;9312162;9257837;9195899;9178909;9178760;9121430;9092949;9091579;9047237;9045636;9038134;9020138;8995379;8945479;8939988;8879209;8864141;8798764;8797825;8702662;8692915;8663450;8636141;8626561;8626429;8576267;8576115;8551220;8473339;8405050;8262984;8258691;8139546;8114715;8086341;8077654;8062594;8020561;21757751;22457183;8900205;15696170;14993658;11278465;21234523;18683785;10858437;1382070;15784897;16195219;16293614;16374509;16461343;16818765;16899217;16938345;1850098;19167335;19592652;19776125;20035083;20040600;20056178;20064523;20237292;20379614;20421494;7657660;8104794;8798643;9032261;9169414;12660731;12746907;9778343;20555418;20541955;19343496;20372794;20729329;20538612;20098747;15085197;20300113;20305788;20971076;21453975;21266711;21152094;21508261;15743820;20007709;15047060;23202272;22674786;19850743;20360068;21819973;21900206;21917715;21952639;22034844;22034845;22378744;22613726;10229084;15536084;15707590;21983898;15870274;19010391;21834013;8626543;17266559;17586321;17632570;18030346;18473783;18854243;19019957;19050260;19149577;19912576;20012528;20594957;20835359;20842205;21738584;22123847;22345475;22422068;22505724;22537596;22802418 3932 E9PAP0;E9PI33;E9PJ92;E9PKQ8;E9PQ10;F8W6B9;Q573B4;Q96DW4 AA747421;ABBA01023431;ABBA01023432;ABBA01023433;ABBA01023434;AF228313;AJ865079;AK098027;AK303073;AL109945;AL121991;AMYH01000465;AMYH01000466;AMYH01000467;BC013200;BN000073;CH471059;DA007906;DB122062;DB129997;M21510;M26692;M26693;M36824;M36881;NG_023387;NM_001042771;NM_005356;U07236;X04476;X05027;X06369;X13529;X14055 AAA18225;AAA59501;AAA59502;AAA59503;AAF34794;AAH13200;ABM82601;ABM85787;BAG53565;BAG64189;CAA28165;CAA28691;CAA29667;CAA31884;CAA32211;CAD55807;CAI23831;EAX07542;EAX07543;EAX07544;EAX07545;EAX07546;NP_001036236;NP_005347;P06239 Hs.470627 1796242;2129737;2145243;2160382;2175344 LCK_1394;RH69098;SHGC-12348;SHGC-74495;SHGC-74532 LSK;YT16;p56lck;pp58lck OTTHUMP00000008640;OTTHUMP00000008740;OTTHUMP00000008741;OTTHUMP00000228508;T-lymphocyte specific protein tyrosine kinase p56lck;leukocyte C-terminal Src kinase;lymphocyte cell-specific protein-tyrosine kinase;p56(LSTRA) protein-tyrosine kinase;proto-oncogene tyrosine-protein kinase LCK;t cell-specific protein-tyrosine kinase;tyrosine-protein kinase Lck APPROVED protein-coding ENSG00000182866 6524 01080 153390 REVIEWED 1347425 LCLAT1 lysocardiolipin acyltransferase 1 2 2 2 p23.1 30513207 30710198 + 30523627 30720595 + 30670123 30867091 + 1580863;6480464;6907045 15152008;14702039;12975309;12477932;8889548;16620771;19075029;17675553;21139048;21890473;21906983;19322201 253558 C9J5S5;C9J6F4;C9JA02;C9JMW2;C9JUV9;C9JXY8;C9K0C3;F8WEY2;Q6UWP7 AA455668;ABBA01074845;ABBA01074846;AC073255;AC132154;AK023269;AK095284;AK296965;AK297262;AK302562;AMYH01010215;AMYH01010216;AY358702;BC146817;BF439401;BF513499;BU674604;BX537607;BX647953;CF264801;CH471053;NM_001002257;NM_182551 AAI46818;AAQ89065;BAC04522;BAG59509;BAG59738;BAG63827;EAX00495;NP_001002257;NP_872357;Q6UWP7 Hs.468048;Hs.662770 1717077;1753031;1848421;1925930;2155394;2160736;2218852;5117897 GDB:631813;REN33791;RH121455;RH69977;SHGC-60157;SHGC-79100;UNQ1849__5010;WIAF-2200 1AGPAT8;AGPAT8;ALCAT1;FLJ37965;HSRG1849;LYCAT;UNQ1849 1-AGP acyltransferase 8;1-AGPAT 8;1-acylglycerol-3-phosphate O-acyltransferase 8;OTTHUMP00000125173;OTTHUMP00000125174;OTTHUMP00000214133;acyl-CoA:lysocardiolipin acyltransferase 1;lysocardiolipin acyltransferase 1 protein-coding ENSG00000172954 26756 17458 614241 VALIDATED 1347368 LCN10 lipocalin 10 Members of the lipocalin family, such as LCN10, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 110145737 110150529 - 138752440 138757232 - 139632619 139637411 - 1580863;6480464 15363845;14702039;12477932 414332 E9PK15;E9PQQ7;E9PRR3;H0YCM3;Q6JVE6 ABBA01022719;AK091788;AL355987;AL832485;AMYH01021870;AY301271;BC036875;BC040963;BC046377;BC064596;BC133045;BC144440;BC144441;BC171741;NM_001001712 AAI33046;AAI44442;AAQ81976;NP_001001712;Q6JVE6 Hs.98132 1683040 RH98407 OTTHUMP00000197345;OTTHUMP00000197346;OTTHUMP00000229789;epididymal-specific lipocalin-10 APPROVED protein-coding 20892 13977 612904 VALIDATED 2307456 LCN1P2 lipocalin 1 pseudogene 2 9 9 9 q34.2 106734944 106735810 + 135174261 135175125 + 136184440 136185304 + 20147318;20167578 653163 AL158826;AL772161;AMYH01021800;NG_009693 LCN1L2;bA244N20.11 APPROVED pseudo 23680 INFERRED 1314097 LCMT2 leucine carboxyl methyltransferase 2 The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008] 15 15 15 q15.3 20390821 20393738 - 41407266 41410183 - 43619974 43622820 - 6480464;6907045 12853982;16642040;15489334;12477932;10600115;9628581;16830365;17026958;12485877;15813917;16344560;17568008;19287006;22253232;21987572;21139048;21906983;22505724 9836 B4DUW3;H3BU01;O60294 ABBA01038350;AC009852;AF265443;AK292587;AK300820;AMYH01006589;AW505587;BC015949;DB260484;DQ102852;NM_014793 AAF75774;AAH15949;AAY88744;BAF85276;BAG62475;NP_055608;O60294 Hs.200596;Hs.533913;Hs.744290 2156899 STS-H54034 FLJ51321;KIAA0547;MGC9534;PPM2;TYW4 OTTHUMP00000161298;leucine carboxyl methyltransferase 2;p21WAF1/CIP1 promoter-interacting protein;tRNA wybutosine-synthesizing protein 4 homolog;tRNA yW-synthesizing protein 4 homolog;tRNA-Wybutosine-synthesizing protein 4;tRNA-yW synthesizing protein 4 APPROVED protein-coding ENSG00000168806 17558 17267 611246 REVIEWED 1342771 LCN5 lipocalin 5 353176 AF082221 17559 1344178 LCN1 lipocalin 1 This gene encodes a member of the lipocalin family of small secretory proteins. Lipocalins are extracellular transport proteins that bind to a variety of hydrophobic ligands. The encoded protein is the primary lipid binding protein in tears and is overproduced in response to multiple stimuli including infection and stress. The encoded protein may be a marker for chromosome aneuploidy as well as an autoantigen in Sjogren's syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and two pseudogenes of this gene are also located on the long arm of chromosome 9. [provided by RefSeq, Nov 2011] 9 9 q34 137553107 137558199 + 138413284 138418386 + 1580863;6480464 7606920;1400345;8999869;17353931;18334931;17945179;17869594;16249071;15489503;15489334;15461462;12613963;12613961;12613960;12591932;12477932;11850445;11727836;11287427;10558865;9759656;8898072;8500570;8276406;8112601;7679926;19586017;19770509;21466861;21324447;21791187;15851553;20360068;21139048 3933 P31025 ABBA01030037;AL161452;AMYH01021839;BC065721;BC074925;BC074926;CD721968;CH471090;CK429694;CK430667;CK431106;L14927;M90424;NM_001252617;NM_001252618;NM_001252619;NM_002297;X62418;X67647 AAA18633;AAA61845;AAH65721;AAH74925;AAH74926;CAA44284;CAA47889;EAW88156;EAW88157;NP_001239546;NP_001239547;NP_001239548;NP_002288;P31025 Hs.530311 5017155 RH66542 MGC71975;PMFA;TLC;TP;VEGP OTTHUMP00000022539;OTTHUMP00000022540;VEG protein;Von Ebner gland protein;lipocalin 1 (tear prealbumin);lipocalin 1-like 2;lipocalin-1;protein migrating faster than albumin;tear lipocalin;tear prealbumin APPROVED protein-coding ENSG00000160349 6525 01059 151675 REVIEWED 1354328 LCN1P1 lipocalin 1 pseudogene 1 9 9 9 q34.2 106641652 106645393 - 135090123 135093847 - 136100292 136104038 - 286310 Q5VSP4 ABBA01032468;AL732364;AL772161;AMYH01021799;NG_022883;Y10826 Q5VSP4 LCN1L1;bA430N14.2 APPROVED pseudo 23412 INFERRED 1351587 LCMT1 leucine carboxyl methyltransferase 1 LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008] 16 16 16 p12.1 23903957 23969431 + 25030548 25097052 + 25123047 25189551 + 1580863;6480464;6907045 10600115;16189514;17724024;15489334;14702039;12477932;10810093;8125298;21292165;17207965;21206058;22990118;21900206;21906983;22732552;22443683 51451 H3BUP7;H7BYF0;I3L2E3;I3L2Q8;I3L4A2;I3L537;Q9UIC8 ABBA01017114;ABBA01017115;ABBA01017116;ABBA01017117;ABBA01017118;AC008741;AC133552;AF037601;AF151826;AK025884;AK223364;AK225271;AK291885;AK314409;AL137283;AL560574;AMYH01007395;BC001214;BC014217;BF058787;BI459868;CH471145;NM_001032391;NM_016309 AAD34063;AAF18267;AAH01214;AAH14217;ADQ32744;BAB15270;BAD97084;BAF84574;BAG37031;CAB70677;EAW55771;EAW55772;EAW55773;EAW55774;NP_001027563;NP_057393;Q9UIC8 Hs.337730 1655883;1686981;1713059;1852653 RH120317;RH64916;RH68799;RH70074 CGI-68;LCMT;PPMT1 [Phosphatase 2A protein]-leucine-carboxy methyltransferase 1;leucine carboxyl methyltransferase 1;protein phosphatase methyltransferase 1;protein-leucine O-methyltransferase APPROVED protein-coding ENSG00000205629 17557 17266 610286 VALIDATED 1345733 LCN9 lipocalin 9 Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 109072999 109075781 + 137694989 137697770 + 138555168 138557949 + 1580863;6480464 15363845;15164053 392399 Q8WX39 ABBA01030041;AL158822;AMYH01021842;AY301270;CH471090;NM_001001676 AAI46406;AAI48848;AAQ81975;EAW88172;EAW88173;NP_001001676;Q8WX39 Hs.532679 5019211 RH104568 9230102I19Rik MUP-like lipocalin;OTTHUMP00000244575;epididymal-specific lipocalin-9 APPROVED protein-coding ENSG00000148386 17442 13979 612903 PROVISIONAL 1344018 LCO liver cancer oncogene 3014525;2846240 3935 6527 165320 1350830 LCN12 lipocalin 12 Members of the lipocalin family, such as LCN12, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 110361011 110364149 + 138966589 138969770 + 139846768 139849949 + 6480464 15363845;12477932;23291589 286256 Q5SQ16;Q6JVE5;R4GN38 ABBA01022733;AI681012;AL807752;AMYH01021881;AY301272;BC031600;BC041168;BX281250;CH471090;NM_178536 AAH41168;AAQ81977;EAW88317;EAW88318;EAW88319;EAW88320;NP_848631;Q6JVE5 Hs.440519 1758253 SHGC-147801 MGC34753;MGC48935 OTTHUMP00000165093;epididymal-specific lipocalin-12;lipocalcin 12 APPROVED protein-coding ENSG00000184925 28733 13978 612905 VALIDATED 1343207 LCN8 lipocalin 8 Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009] 9 9 9 q34.3 110161959 110165851 - 138768661 138772552 - 139648840 139652731 - 6480464 15363845;15164053;14702039;12477932 138307 Q6JVE9;Q6ZT51 ABBA01022719;AK090647;AK124003;AK126902;AL355987;AMYH01021871;AY301268;BC024235;BC042109;BC128381;BC130465;BC132714;CH471090;NM_178469 AAI30466;AAI32715;AAQ81973;ADR83321;BAC03496;BAC86743;EAW88264;EAW88265;NP_848564;Q6JVE9 Hs.323991 5113173 RH98389 EP17;LCN5 OTTHUMP00000022602;epididymal-specific lipocalin-8;lipocalin 5 APPROVED protein-coding ENSG00000204001 27038 18549 612902 PROVISIONAL 1603824 LCN15 lipocalin 15 9 9 9 q34.3 110167242 110172130 - 138773907 138778786 - 139654086 139658965 - 6480464 12975309;12477932 389812 Q49AN5;Q6UWW0 ABBA01022719;AL355987;AMYH01021871;AMYH01021872;AY358618;BC035124;BC093893;BC093895;NM_203347 AAH35124;AAH93893;AAH93895;AAQ88981;NP_976222;Q6UWW0 Hs.413902 5015619;5127085 D11S3114;D7S1473 PRO6093;RP11-216L13.5;UNQ2541 MSFL2541;OTTHUMP00000162517;lipocalin-15 protein-coding ENSG00000177984 33777 15614 PROVISIONAL 1601788 LCNL1 lipocalin-like 1 9 9 9 q34.3 110389580 110392345 + 138997266 139000031 + 139877445 139880210 + 12477932 401562 F2Z3E7;Q6ZST4 ABBA01022734;AK127160;AK127236;AL807752;AMYH01021882;BC062468;BC137559;BC137567;NM_207510 AAI37560;AAI37568;BAC86862;BAC86897;NP_997393;Q6ZST4 Hs.695210 1336264;2116388 D9S905;STS-M98539 FLJ45224 OTTHUMP00000215782;lipocalin-like 1 protein protein-coding ENSG00000214402 34436 16983 VALIDATED 1349602 LCS1 lymphedema-cholestasis syndrome 1 7240710 10968776 84565 1336732;1340735 D15S652;D15S979 15737 1344800 LCT lactase The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma membrane and has both phlorizin hydrolase activity and lactase activity. [provided by RefSeq, Jul 2008] 2 2 q21 136261885 136311220 - 136545415 136594750 - 1600240;1580863;6480464;6907045;7240710 17218984 7487100;2460343;19422935;19370782;19299182;19174780;19168163;19161632;19156157;19034520;19010095;18980667;18974842;18940163;18605960;18568133;18544679;18468259;18454942;18396155;18275674;18237552;18194137;18179885;18080747;18042517;17911653;17706627;17701907;17651714;17574225;17507622;17478481;17451204;17327935;17311063;17159977;17120047;17020404;17015546;16876487;16400612;18030226;17934640;16391332;16301215;16109658;16024930;15831909;15716664;15667380;15479673;15365657;15178553;15107297;15106124;15054412;14753735;12915462;12795467;12692047;12459179;12011060;11788828;11751874;10677375;8257087;7523415;1902057;22278929;19913121;20585563;20587610;20616560;20628086;17143950;18704543;19039706;19138442;19453261;19799794;19844753;19889824;19947896;19955176;20015952;20190720;20225268;20362522;20390408;20430969;20509822;20960210;21136048;21340236;21125297;21365615;23029545;21686221;21193851;21327791;21836184;23415628;21829377;23211657;22937140;22965418;22989008;23030683;23256641;21763294 3938 H0Y4E4;P09848 ABBA01028160;ABBA01028161;ABBA01028162;ABBA01028163;AC011893;AMYH01011124;CH471058;M61834;M61839;M61840;M61841;M61850;NG_008104;NM_002299;X07994 AAA59504;AAI56076;AAI56951;AAX88924;CAA30801;EAX11622;NP_002290;P09848 Hs.551506 2106535;2128887;2133704;2181147;2182904 AFMa338ye5;D2S2819;LCT__6380;RH70816;STS-X07994 LAC;LPH;LPH1 OTTHUMP00000162531;lactase-glycosylceramidase;lactase-phlorizin hydrolase;lactase-phlorizin hydrolase-1 APPROVED protein-coding ENSG00000115850 6530 04437 223000;603202 REVIEWED 1349815 LCN6 lipocalin 6 9 9 9 q34.3 110151587 110156098 - 138758290 138762801 - 139638469 139642980 - 15489334;15363845;14702039;14617364;12975309;12477932 158062 K7ERN5;P62502 ABBA01022719;AF303084;AL355987;AMYH01021870;AMYH01021871;AY301269;AY358598;BC040937;BC062746;CH471090;NM_198946 AAH62746;AAQ14494;AAQ81974;AAQ88961;ADR82687;EAW88259;EAW88260;NP_945184;P62502 Hs.522504 LCN5;UNQ643;hLcn5 OTTHUMP00000197341;OTTHUMP00000197342;epididymal-specific lipocalin LCN6;epididymal-specific lipocalin-6;lipocalin 5;lipocalin-5 protein-coding ENSG00000267206 17337 17268 609379 VALIDATED 1602287 LCTL lactase-like This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 15 15 15 q22.31 43728610 43745941 - 64627590 64644889 - 66840536 66857835 - 6480464 15340161;14702039;12975309;12084582;22020932;9779294 197021 B3KQY0;H3BQI3;Q6UWM7 ABBA01038815;AC116913;AK090598;AK311441;AMYH01006724;AY358729;CH471082;EB361548;NM_001278562;NM_207338;NR_103739 AAI48355;AAI52991;AAQ89091;BAG52192;EAW77781;NP_001265491;NP_997221;Q6UWM7 Hs.680983 1778007 RH15756 FLJ33279;KLG;KLPH KL lactase phlorizin hydrolase;OTTHUMP00000164269;klotho gamma;klotho/lactase-phlorizin hydrolase-related protein;lactase-like protein protein-coding 15583 13930 REVIEWED 69453 LCN2 lipocalin 2 9 9 q34 129951553 129955555 + 130911732 130915734 + 1580863;2316514;2316490;2316515;6480464;7245500;7245489;7245497;7244373;7245503;7245951;7245960;7245471;7244371;7244370;7245484;7245983;7245985;7245469 18292240;20057160;15623795;22923545;23085062;22997966;23547217;22542304;22342673;22015481;23335628;23673972;23683031;23085980;21467131;21279810;23364806 21132267;16146540;1281792;18398717;18393169;18392050;18375251;18362300;18337554;18317594;18287807;18275504;18070344;18064607;18001501;17949711;17907186;17901710;17874137;17847728;17721627;17570904;17554627;17530720;17360238;17294443;17253959;17229907;17114340;16827865;16798734;16740002;16733850;16671099;16381001;16374475;16335952;16254208;19454345;19419554;19342674;19308044;19249502;19249501;19237579;19201208;19176795;19148711;19148153;19092815;19055468;19015448;18927283;18809975;18803290;18798264;18768801;18753796;18710473;18676832;18663364;18600028;18464118;18437016;21439274;16061852;16060857;15711640;15691834;15670845;15489334;15342556;15084671;12477932;12473066;11986950;11486081;10777108;10737800;10684642;10529240;10475571;10339412;9842963;9339356;8889548;8633182;8195592;8060329;7997842;7835423;7829063;7683678;7554268;21273640;21300375;21457438;20587610;20628624;21133718;20496473;20596614;20680102;15637066;19287180;19321980;19466389;19474273;19540040;19549696;19638718;19649660;19661117;19680166;19708926;19714584;19727808;19732769;19850388;19857721;19863663;19875582;19887608;19889214;19938135;19951994;20030526;20056755;20068352;20072790;20101218;20306447;20373132;20412947;20435938;20527084;20703446;20363104;20208456;21150136;20086155;20551266;20921623;20960272;20504881;20559153;19904630;20123318;20179686;20502037;20512104;20620526;20802417;20870707;21031541;21104585;20819195;21030534;21048034;21278918;21511111;21741997;21307379;20504246;20853162;21143924;22222353;22749388;22515481;23343559;22976261;23100449;21403867;21115620;21576334;21622717;22172816;18852336;22723447;22728279;21160226;21573795;21756081;22237710;22371224;22820397;22928018;22982376;23150684;20961744;21334721;20511727;21257679;21442621;21555394;21649922;21836143;21836147;21612443;21691251;21726963;22164937;21184133;21412214;21420718;21545264;21518160;23020231;21763306;22169111;22291019;22292925;22371904;22469622;21874256;21978028;22200895;21740336;21986252;21855366;22123561;22325322;22441986;22950345;21885675;22035911;21463871;21947917;22251225;22200942;22500106;22876548;22876549;22340728;23056397;23128339;22767506;23207546;18029348;22505707;22705926;22537138;22695331;22811364;22932106;22965758;22404749;22226205;22835414;23349979;23376114;23056218;22222228;22640376;23167703;22562534;22800509;22851691;22710694;21756891;22559235;23327592 3934 H9KV70;Q92683 ABBA01043868;AK301694;AK316217;AL590708;AMYH01021741;AW778875;BC033089;BF354583;BM977724;BP272828;BX644845;CA454137;CH471090;CR542092;EU644752;N79823;NM_005564;S75256;X83006;X99133 AAD14168;AAH33089;ACD02429;BAG63166;BAH14588;CAA58127;CAA67574;CAG46889;EAW87748;EAW87749;EAW87750;NP_005555;P80188 Hs.204238 1686450;1792524;2150496 PMC152639P4;RH93784;STS-X99133 24p3;MSFI;NGAL 25 kDa alpha-2-microglobulin-related subunit of MMP-9;OTTHUMP00000022238;OTTHUMP00000022239;OTTHUMP00000022240;lipocalin 2;lipocalin-2;migration-stimulating factor inhibitor;neutrophil gelatinase-associated lipocalin;oncogene 24p3;p25;siderocalin;siderocalin LCN2 protein-coding ENSG00000148346 6526 02551 600181 VALIDATED 1604965 LCORL ligand dependent nuclear receptor corepressor-like This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 4 p15.31 18309820 18488472 - 17453941 17632477 - 17844839 18023483 - 6480464 19266077;18391952;18391951;16344560;14702039;12560079;12477932;8889548;20546612;17207965;20397748;19343178;20189936;20379614;21900206;21998595;22021425;21906983;20881960;23202124 254251 B4DSW0;C9JI46;D6RA10;Q8N3X6 AA625769;ABBA01032617;AC005768;AC079399;AI671443;AK054796;AK055258;AK096181;AK299939;AL133031;AMYH01014035;BC037322;BC062661;BE254250;BM721547;BX107807;BX354708;CH471069;DA408372;NG_015822;NM_001166139;NM_153686 AAH37322;ADQ32482;BAB70892;BAG61772;EAW92786;EAW92787;EAW92788;EAW92789;NP_001159611;NP_710153;Q8N3X6 Hs.446201;Hs.677572 1666861;1673858;1698918;1846970;2120891;2156770;2180285;5093308 A009L13;D4S327;G32642;RH103028;RH47077;SHGC-51641;SHGC-67761;STS-R67597 FLJ30696;MLR1 LCOR-like protein;MBLK1-related protein;OTTHUMP00000158672;OTTHUMP00000158673;ligand-dependent nuclear receptor corepressor-like protein;transcription factor MLR1 APPROVED protein-coding ENSG00000178177 30776 10088 611799 REVIEWED 1603601 LCOR ligand dependent nuclear receptor corepressor LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008] 10 10 10 q24 92333590 92465797 + 98582727 98708655 + 98592017 98724198 + 6480464 15489334;15193453;15164054;14702039;12700765;12560079;12535528;12477932;11347906;21565892;16344560;19744931;19744932;20379614;17207965;20211142;22277651;21856747;23502783 84458 Q96JN0 AB058698;AB072899;ABBA01021820;ABBA01021821;ABBA01021822;ABBA01021823;AK023248;AK095345;AL162502;AL442123;AL832044;AL832106;AL834245;AMYH01002974;AMYH01002975;AMYH01002976;BC053359;BC128542;CH471066;DA507116;DA788606;NM_001170765;NM_001170766;NM_032440 AAH53359;AAI28543;ADQ32582;BAB47424;CAD38921;CAD91159;CAD91160;EAW49962;EAW49963;EAW49964;EAW49965;EAW49966;NP_001164236;NP_001164237;NP_115816;Q96JN0 Hs.745068 1653200;1655383;1699760;1700788;1704782;1725883;1788468;2133347;2153177;2184655;2219932;5019827;5093690 A009V05;A009Z04;AI396692;D10S2269;G32866;G33004;G62415;MLR2__6322;RH103486;RH104019;RH44777;SHGC-79857;WI-15944 FLJ38026;KIAA1795;MLR2;RP11-175O19.1 OTTHUMP00000020179;OTTHUMP00000020180;OTTHUMP00000020181;ligand-dependent corepressor;mblk1-related protein 2 APPROVED protein-coding ENSG00000196233 29503 07609 607698 VALIDATED 1345599 LDHAL6A lactate dehydrogenase A-like 6A 11 11 11 p15.1 18612987 18636752 + 18434007 18457723 + 18477374 18501147 + 737633;6907045 12477932 18351441;14702039;17500595;22939629;21139048;19322201;22505724 160287 Q6ZMR3;Q96L19 ABBA01061055;AC027544;AK131523;AMYH01003424;AMYH01003425;AY581313;BC014340;CH471064;NM_001144071;NM_144972 AAH14340;AAS93432;BAD18662;EAW68387;EAW68388;NP_001137543;NP_659409;Q6ZMR3 Hs.668877 1673552;1716067;1777023 RH120997;RH47368;SHGC-34534 LDH6A;MGC23940 L-lactate dehydrogenase A-like 6A;OTTHUMP00000236659;OTTHUMP00000236660 protein-coding ENSG00000166800 28335 13980 VALIDATED 1317977 LCP1 lymphocyte cytosolic protein 1 (L-plastin) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008] 13 13 q14.3 45598060 45654395 - 46700058 46756459 - 1580863;6480464 2378651;2111166;17294403;17290393;16636079;16344560;16287074;16193335;16115810;15592455;15489334;14756805;14702039;12963694;12477932;11591653;11279160;10903868;10737800;10668786;10446213;8663066;8428953;8428952;8139549;8125298;7806577;3864729;3261603;3211125;2252891;1491005;9923600;12119179;20183869;21525390;19142861;19795399;19799649;18029348;20683899;20169155;21098731;20878578;22939629;21805466;22581862;22586326;21139048;21890473;21906983;22118674;17370265;19738201;23001012;23213074;17676665;22505724 3936 B4DUA0;P13796;Q5TBN3;Q5TBN5 AB208984;ABBA01050983;AK058152;AK097275;AK129625;AK223305;AK300556;AK309009;AK312393;AL137141;AMYH01005093;AY960627;BC007673;BC010271;BC015001;BC053839;BF893502;CH471075;CR936795;DA820090;DB156931;J02923;M22300;M34426;NM_002298;S54531 AAA36184;AAA63236;AAB02845;AAH07673;AAH10271;ABM83861;ABM87183;BAD92221;BAD97025;BAG35310;BAG53443;BAG62262;EAX08757;EAX08758;NP_002289;P13796 Hs.381099;Hs.658408 1664008;1851704;2111532;2125081;2154156 D10S2284;D13S1503;RH17581;STS-D19729;WI-17631 CP64;DKFZp781A23186;FLJ25423;FLJ26114;FLJ39956;L-PLASTIN;LC64P;LPL;PLS2 L-plastin (Lymphocyte cytosolic protein 1) (LCP-1) (LC64P);LCP-1;Lymphocyte cytosolic protein-1 (plasmin);OTTHUMP00000018362;bA139H14.1 (lymphocyte cytosolic protein 1 (L-plastin));plastin 2;plastin-2 APPROVED protein-coding ENSG00000136167 6528 01082 153430 REVIEWED 6782128 LDHAL6CP lactate dehydrogenase A-like 6C, pseudogene 12 q14.2 63397208 63398768 + 17903294;19679512 121498 ABBA01026625;AC078814;AMYH01004539;NG_021722 1676230;1736274 D12S1230E;RH92267 LDH6C pseudo 39423 INFERRED 6777894 LDHAL6DP lactate dehydrogenase A-like 6D, pseudogene 11 83525502 83526604 - 100420508 ABBA01017352;AMYH01003840;AP002370;NG_024390 pseudo 44239 INFERRED 6777895 LDHAL6EP lactate dehydrogenase A-like 6E, pseudogene 4 72300125 72303599 - 100420462 ABBA01022966;AC079230;AMYH01014286;NG_025129 pseudo 44241 INFERRED 6777896 LDHAL6FP lactate dehydrogenase A-like 6F, pseudogene 6 157719782 157721283 - 100420477 ABBA01021121;AL607068;AMYH01016776;NG_025884 pseudo 44240 INFERRED 732713 LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008] 5 5 q35.1 169607666 169657400 - 169675088 169724822 - 1580863;6480464;6907045 12029088;7706237;11048639;11607830;17652306;18564921;18549800;17420479;17237383;17235283;17148460;16914752;16439309;16356554;16354835;16094384;15708849;15699071;15668918;15623534;15588985;15489334;15388330;15144186;14757747;14722089;14662865;12847255;12817019;12640123;12496421;12477932;12084069;11487585;11390650;11331248;11301322;10993915;10790433;10747096;10660534;10636929;10562326;10556826;10497204;10469124;10229072;10224278;10204582;10026222;10021361;9765283;9716598;9697839;9489702;9341187;9207119;9115214;9047237;8760799;8703037;8702662;8666952;8661136;16189514;10820259;11314042;8995445;8695800;10477741;15558067;20936779;12176364;12773374;14702039;16467851;19667077;19812192;20079431;7565724;9846482;20562827;20534575;20457812;21282515;21887278;21900206;22902619;21469089;21725281;21949020;21988832;23071622;22323535;22267732;22534133;12190313;19635790;22802418;21832049;22806433;12496419;19380743;19710135;20842205;20890395;22844345;22786724 3937 E5RKA2;E7ESF6;Q13094 ABBA01044098;ABBA01044099;ABBA01044100;ABBA01044101;AC034199;AK122637;AK292890;AK296098;AK300000;AK310369;AMYH01015802;BC016618;BG911397;BT007273;CH471062;FN432830;NM_005565;U20158;U44065 AAA93308;AAC50135;AAH16618;AAP35937;ABM81607;ABM84789;BAF85579;BAG58851;BAG61819;CBA11531;EAW61478;EAW61479;EAW61480;NP_005556;Q13094 Hs.304475 1646814;1654229;1719013;1772841;2150203;2180874;5491790 G58254;LCP2;RH70367;RH70635;RH79005;SGC35415;STS-T25868 SLP-76;SLP76 76 kDa tyrosine phosphoprotein;OTTHUMP00000223178;OTTHUMP00000223180;SH2 domain-containing leukocyte protein of 76 kDa;SH2 domain-containing leukocyte protein of 76kD;SLP-76 tyrosine phosphoprotein;lymphocyte cytosolic protein 2;lymphocyte cytosolic protein 2 (sh2 domain-containing leukocyte protein of 76kd) APPROVED protein-coding 6529 03362 601603 REVIEWED 1354252 LDHAP1 lactate dehydrogenase A pseudogene 1 4 4 4 p16.2 4792358 4794001 - 4946153 4947996 - 4895351 4896995 - 11990523;9847074;3838278;3793094 3940 ABBA01008253;AC092437;AMYH01013904;NG_003016;X02153 LDHAL1 APPROVED pseudo 6536 INFERRED 1347892 LDHAP3 lactate dehydrogenase A pseudogene 3 2 2 2 p21 41886294 41888295 + 41896848 41922068 + 42046788 42048789 + 3180843 442013 ABBA01075055;AC009413;AMYH01010280;NG_009318 LDHAL3 APPROVED pseudo 6538 INFERRED 1353140 LDHAP4 lactate dehydrogenase A pseudogene 4 9 9 9 p22.3 14854195 14855939 - 14910764 14912428 - 14920687 14922431 - 3180843;3000353 158222 ABBA01065293;AF461457;AL592293;AMYH01019242;NG_001313 1742523;1849279 GDB:197849;LDHA LDHAL4 APPROVED pseudo 6539 INFERRED 1351488 LDB3 LIM domain binding 3 This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010] 10 10 q22.3-q23.2 88418301 88485805 + 88428206 88495825 + 1580827;1581815;1580863;5131491;5131492;6480464;7240710 14660611;11696561;18491053;15380937 10427098;19472918;18513529;17394203;16476425;16344560;14702039;12477932;11842093;11076863;10727866;10391924;9734811;8681137;16385451;19377068;20201937;20474083;20066428;22929165;22349865;17987659;20301486;20301672;15174051;23271734 11155 Q9Y4Z3 AA180065;AB014513;ABBA01033680;ABBA01033681;AC067750;AF086263;AF276807;AF276808;AF276809;AJ133766;AJ133767;AJ133768;AK093184;AK294696;AK297871;AK300692;AK304760;AL601484;AMYH01002900;BC010929;BC023609;CH471142;DA762127;DA898241;DC357269;EF179181;F33274;NG_008876;NM_001080114;NM_001080115;NM_001080116;NM_001171610;NM_001171611;NM_007078 AAH10929;AAI11458;AAQ14316;AAQ14317;AAQ14318;ABN05284;BAA31588;BAG57855;BAG60197;BAG62375;BAG65515;CAB46727;CAB46728;CAB46729;EAW80322;EAW80323;EAW80324;EAW80325;EAW80326;EAW80327;EAW80328;EAW80329;NP_001073583;NP_001073584;NP_001073585;NP_001165081;NP_001165082;NP_009009;O75112 Hs.657271 1674830;1693474;1717261;1723503;1736002;1736032;1782084;2178213;5022578;5095315;5118576 D10S1290E;D10S1307E;D11S3430;D1S1423;LDB3;RH118568;RH122045;RH41795;RH48664;SHGC-154028;SHGC-57810 CMD1C;CYPHER;FLJ35865;KIAA01613;KIAA0613;LDB3Z1;LDB3Z4;LVNC3;MFM4;ORACLE;PDLIM6;ZASP LIM domain-binding protein 3;OTTHUMP00000020008;OTTHUMP00000020009;PDZ and LIM domain 6;Z-band alternatively spliced PDZ-motif protein;protein cypher APPROVED protein-coding ENSG00000122367 15710 16172 601493;605906;609452 REVIEWED 1345292 LDHAP2 lactate dehydrogenase A pseudogene 2 1 1 q42.3 209144521 209146235 + 235901195 235902909 + 3793094 100190799 ABBA01033144;AL121997;AMYH01001850;NG_008633 LDHAL2 APPROVED pseudo 6537 INFERRED 1346556 LDHAP5 lactate dehydrogenase A pseudogene 5 10 10 10 q26.11 114422225 114423412 - 120681594 120717885 - 120691610 120692797 - 3180843 729666 ABBA01062927;AL157788;AMYH01003107;NG_008632 1712532 AU046641 LDHAL5 APPROVED pseudo 6540 INFERRED 1344718 LDHBP1 lactate dehydrogenase B pseudogene 1 13 13 q34 94757621 94758678 + 113930989 113932046 + 100289475 ABBA01019864;AL136221;AMYH01005399;NG_021974 1647159;1688108 RH15605;SHGC-53640 LDHBL1 APPROVED pseudo 6542 INFERRED 1348419 LDHBP2 lactate dehydrogenase B pseudogene 2 X X X q13.3 75834770 75836037 - 75471644 75472647 - 75555042 75556309 - 2393406 3947 ABBA01059347;AL442646;AMYH01022625;M60601;NG_001155 1754067;1772070 G07018;SHGC-132102 LDHBL2;LDHBP APPROVED pseudo 6543 INFERRED 1352174 LDHAP7 lactate dehydrogenase A pseudogene 7 2 2 p11.2 84831900 84834230 - 85003113 85005443 - 100190800 ABBA01075727;AC010087;AMYH01010490;NG_008634 LDHAL7 APPROVED pseudo 23144 INFERRED 4145467 LDHBP3 lactate dehydrogenase B pseudogene 3 5 5 5 q14.3 88036132 88036919 - 92202248 92203112 - 92176544 92177331 - 100129283 ABBA01069289;AC008517;AMYH01015482;NG_016809 pseudo 39136 INFERRED 1321219 LDB1 LIM domain binding 1 10 10 q24-q25 103857307 103864692 - 103867317 103880210 - 6480464 12642495;12874135;12792813;9391090;10767331;18583962;17910069;16815859;16713569;16189514;15489334;15231748;15164054;14743429;12727888;12477932;12381786;12153047;11882901;11751867;10640831;10083735;9872335;9799849;9736723;9503020;9452425;9315627;9214632;9209374;19117995;12925972;16407974;12239153;20423330;20447379;16385451;17437998;20211142;20603019;10866689;16314316;19497860;22010104;21139048 8861 Q86U70 AB016485;AB250384;ABBA01063171;AF064491;AF068652;AJ243098;AK300588;AK308481;AL500527;AMYH01003013;AMYH01003014;AMYH01003015;BC000482;BC009246;BT007054;CH471066;CV575131;NM_001113407;NM_003893 AAC28341;AAC77818;AAH00482;AAH09246;AAP35703;ABM81698;ABM84859;BAA31991;BAE95402;BAG62286;CAB45409;EAW49722;EAW49723;EAW49724;NP_001106878;NP_003884;Q86U70 Hs.454418 1797814;2191563 LDB1_2220;MARC_26540-26541:1033662278:1 CLIM2;NLI CLIM-2;LDB-1;LIM domain-binding factor CLIM2;LIM domain-binding factor-1;LIM domain-binding protein 1;OTTHUMP00000020360;carboxy terminal LIM domain protein 2;carboxyl-terminal LIM domain-binding protein 2;hLdb1;nuclear LIM interactor protein-coding ENSG00000198728 6532 09144 603451 VALIDATED 1317395 LDB2 LIM domain binding 2 Genes encoding LIM domain-binding factors were initially isolated in a screen for proteins that physically interact with the LIM domains of nuclear proteins (summarized by Semina et al., 1998 [PubMed 9799849]). These proteins, such as the one encoded by the LDB2 gene, are capable of binding to a variety of transcription factors and are likely to function at enhancers to bring together diverse transcription factors and form higher order activation complexes or to block formation of such complexes (Jurata and Gill, 1997 [PubMed 9315627]). The family of genes encoding LIM domain-binding factors includes 2 members isolated from the mouse, Clim1 (Bach et al., 1997 [PubMed 9192866]) and Clim2/Lbd1/Nli (Agulnick et al., 1996 [PubMed 8918878]; Jurata et al., 1996 [PubMed 8876198]; Bach et al., 1997 [PubMed 9192866]) and their homologs cloned from the frog, chicken, and fly. The fact that LIM domain-binding factors are likely to be involved in the coordination of the transcriptional activity of many diverse factors might implicate them in human phenotypes characterized by multiple affected sites.[supplied by OMIM, Jul 2010] 4 4 4 p16 16968377 17365469 - 16112262 16509425 - 16503164 16900424 - 1580863;6480464 15231748;9799849;9880598;9853615;16344560;15489334;14702039;12477932;10861853;10431247;10083735;8125298;8876198;8918878;9192866;9315627;19997623;20379614;20211142;23000965;23534349 9079 B7Z2D3;D6RAT1;E7EX95;E9PFI4;E9PGU0;G5E9Y7;H0YA09;O43679 ABBA01032585;ABBA01032586;ABBA01032587;ABBA01032588;ABBA01032589;ABBA01032590;ABBA01032591;ABBA01032592;AC005690;AC097515;AC104656;AC105353;AC106894;AF047337;AF052389;AF064492;AF064493;AF068651;AK095238;AK226029;AK294588;AK300119;AK312881;AMYH01014028;BC034019;BG704168;CH471069;DA166898;NM_001130834;NM_001290 AAC13274;AAC28342;AAC28343;AAC77817;AAC83552;AAH34019;AAY40912;ABM82907;ABM86097;BAH11819;BAH13216;EAW92765;EAW92766;EAW92767;NP_001124306;NP_001281;O43679 Hs.714330 1341098;1664952;1668551;1716875;1719947;1731445;1766487;1772300;1774853;1785120;1785170;1797816;2113762;2118236;2137194;2171398;2181387;2186353;5023099 AB046090;D4S1525;D4S2642;D4S590;D4S599;D4S731;G09887;G34137;GDB:3755021;LDB2;LDB2_2122;RH121731;RH123952;SHGC-149811;SHGC-155343;SHGC-156280;SHGC-50314;SHGC-59820;SHGC-67928 CLIM1;LDB1 CLIM-1;LDB-2;LIM binding domain 2;LIM domain-binding factor CLIM1;LIM domain-binding factor-2;LIM domain-binding protein 2;OTTHUMP00000158632;OTTHUMP00000217823;OTTHUMP00000217824;OTTHUMP00000217825;OTTHUMP00000217827;carboxyl-terminal LIM domain-binding protein 1 APPROVED protein-coding ENSG00000169744 6533 16022 603450 VALIDATED 1342929 LDHAL6B lactate dehydrogenase A-like 6B 15 15 15 q22.2 36386997 36388669 + 57286334 57288006 + 59499015 59500787 + 1580863;6480464;6907045 12107167;15489334;14702039;12477932;15870898;20800603;20877624;22863883;22939629;22318606;21853274 92483 Q9BYZ2 ABBA01038968;AC092756;AK058192;AMYH01006683;AY009108;AY642121;BC022034;CH471082;CS072266;DB511998;HC007068;HC044517;NG_031999;NM_033195 AAG49399;AAH22034;AAT65080;BAB71710;CAI93404;CBH19339;CBH30588;EAW77566;NP_149972;Q9BYZ2 Hs.307052 LDH6B;LDHAL6;LDHL L-lactate dehydrogenase A-like 6B;OTTHUMP00000163569;lactate dehydrogenase A -like;lactate dehydrogenase A-like 6 protein-coding ENSG00000171989 21481 13981 VALIDATED 736025 LDHA lactate dehydrogenase A The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008] 11 11 p15.4 18372687 18385969 + 18415936 18429765 + 1600277;1600281;1300048;1580863;6480464;6484113;6907045;7240710 12438314;11085542 2334430;17220478;2434947;19276158;19021062;18821170;18534967;18521687;18039033;17483170;17178662;16766262;16344560;16132575;15635413;15592455;15489334;15240094;14760703;14702039;12712614;15231747;12629811;12555229;12477932;12160330;12145195;12107167;11276087;10897012;10508479;8327147;8125298;7908613;5014440;3838278;3000353;2315312;1959923;1953713;1445373;1297552;11582518;11125887;15710247;20677014;18814027;19668225;19838163;19847924;19923867;7273846;20951115;20877624;21124955;20828817;20385008;16196087;19135240;22863883;22990118;22897481;22939629;22948140;23166385;21249322;20946988;22923663;15161933;21081666;21632858;20849852;22079093;22127970;21969607;21252943;18781797;20639865;21139048;21726808;21858537;21890473;21906983;21987572;22360420;21452021;22429998;22536838;16009940;21044950;21145461;21319273;22593701;18160415;22961700;23266049;16263121;19738201;19805454;21963094;21988832;22053931;22304920;22623428;23000965;23349634;23404405;23184277;16027165;21853274;22505724 3939 F5GWW2;F5GXC7;F5GXH2;F5GXU1;F5GXY2;F5GYU2;F5GZQ4;F5H5J4;F5H6W8;F5H8H6;Q9UDE8 ABBA01061057;AC084117;AK026515;AK130035;AK130105;AK130587;AK223078;AK296089;AK296667;AK298834;AK307477;AMYH01003421;AMYH01003422;AY423727;BC067223;BG424022;BG760757;BM995301;BU507758;CD243986;CH471064;CR456775;CR541714;DA609380;DB502157;DC392310;DC396757;NG_008185;NM_001135239;NM_001165414;NM_001165415;NM_001165416;NM_005566;NR_028500;X02152;X03077 AAH67223;AAS00490;BAC85389;BAD96798;BAG58843;BAG59264;BAH12879;CAA26088;CAA26879;CAG33056;CAG46515;EAW68395;EAW68396;EAW68397;NP_001128711;NP_001158886;NP_001158887;NP_001158888;NP_005557;P00338 Hs.2795 1658003;1690544;1742523;1742877;1849279 D11S4625;GDB:197849;GDB:212868;LDHA;RH93049 GSD11;LDH-M;LDH1;LDHM;PIG19 L-lactate dehydrogenase A chain;LDH muscle subunit;LDH-A;LDH-M;OTTHUMP00000165205;OTTHUMP00000165206;OTTHUMP00000165207;OTTHUMP00000236636;OTTHUMP00000236642;OTTHUMP00000236646;OTTHUMP00000236647;cell proliferation-inducing gene 19 protein;lactate dehydrogenase M;proliferation-inducing gene 19;renal carcinoma antigen NY-REN-59 APPROVED protein-coding ENSG00000134333 6535 01025 150000;612933 REVIEWED 1317689 LDHD lactate dehydrogenase D The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 16 q23.1 59438660 59443568 - 73703259 73708166 - 75145758 75150670 - 1580863;6480464;6907045 21145461;19844255;12127981;15489334;12477932;11582518;11125887;20877624;20499337;23333299 197257 H3BM70;Q86WU2 ABBA01058123;AC099508;AMYH01007815;AY092767;BC040279;BC047902;BM544922;CH471114;NM_153486;NM_194436 AAH40279;AAH47902;AAM50322;EAW95664;EAW95665;EAW95666;EAW95667;NP_705690;NP_919417;Q86WU2 Hs.380929 1665564 SHGC-60690 DLD;MGC57726 D-lactate dehydrogenase;OTTHUMP00000174943;probable D-lactate dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000166816 19708 06318 607490 REVIEWED 1349750 LDHC lactate dehydrogenase C Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008] 11 11 p15.1 18390429 18429366 + 18433853 18472793 + 1580863;6480464;6907045 2440048;18930904;17935709;17178662;15489334;14985855;12477932;12438276;11377399;8318584;7382246;3175768;2930531;2844458;2596827;11582518;11125887;18368308;8614414;17207965;21124955;20499337;16600870;22990118;21555454;21858537 3948 F5GWS6;F5GZ11;F5H155;F5H245;F5H326;F5H5G7;G3XAP5;P07864 ABBA01061055;ABBA01061056;AC027544;AC084117;AF401094;AF401095;AF401096;AF401097;AK058181;AMYH01003422;AMYH01003423;AY286300;BC019249;BC064388;BC090043;BG717645;CH471064;GU479374;HQ386000;HQ386001;HQ386002;HQ386003;HQ386004;J02938;L15230;NG_011816;NM_002301;NM_017448;U13680 AAA21348;AAA59507;AAH19249;AAH64388;AAH90043;AAN87112;AAP37402;ADG58108;ADQ32611;AEW43811;AEW43812;AEW43813;AEW43814;EAW68389;EAW68390;EAW68391;EAW68392;EAW68393;EAW68394;NP_002292;NP_059144;P07864 Hs.654377 1681634;1855285;2153918 LDHC;RH98700;STS-U13680 CT32;LDH3;LDHX;MGC111073 L-lactate dehydrogenase C chain;LDH testis subunit;LDH-C;LDH-X;OTTHUMP00000236649;OTTHUMP00000236651;OTTHUMP00000236655;OTTHUMP00000236657;cancer/testis antigen 32;lactate dehydrogenase C4;lactate dehydrogenase c variant 1;lactate dehydrogenase c variant 3;lactate dehydrogenase c variant 4 APPROVED protein-coding ENSG00000166796 6544 01027 150150 REVIEWED 7244557 LDLRAD4-AS1 LDLRAD4 antisense RNA 1 14702039;17213182 100288122 ABBA01074041;AK098298;AMYH01008846;AP002439;BC042085;DT217238;NR_040031 Hs.646264;Hs.739715 1708728 SHGC-81577 miscrna ENSG00000267690 48592 VALIDATED 1603477 LDLRAD1 low density lipoprotein receptor class A domain containing 1 1 1 1 p32.3 52762183 52771480 - 54247094 54256391 - 54474506 54483803 - 6480464 12477932;8889548 388633 B7ZME3;Q5T700 ABBA01074729;AL353898;AMYH01000632;BC103740;BC127708;BC127709;BC140760;BC144466;BC171743;BM977091;CF887342;CH471059;NM_001010978;NM_001276392;NM_001276393;NM_001276394;NM_001276395 AAI27709;AAI27710;AAI40761;AAI44467;EAX06712;NP_001010978;NP_001263321;NP_001263322;NP_001263323;NP_001263324;Q5T700 Hs.439583 OTTHUMP00000010102;OTTHUMP00000010103;low density lipoprotein receptor A domain containing 1;low-density lipoprotein receptor class A domain-containing protein 1 protein-coding ENSG00000203985 32069 17372 VALIDATED 1606368 LDLRAD2 low density lipoprotein receptor class A domain containing 2 1 1 1 p36.12 20461696 20474651 + 22011345 22024301 + 22138758 22151714 + 6480464 12477932 401944 Q5SZI1 ABBA01059833;AK127275;AL590103;AMYH01000341;BC043362;BC146860;CH471134;NM_001013693 AAI46861;BAC86913;EAW94993;NP_001013715;Q5SZI1 Hs.710255 1687926;1744665;1775748;2137094 G15904;GDB:549190;RH79675;STS-M85289 OTTHUMP00000002767;low density lipoprotein receptor A domain containing 2;low-density lipoprotein receptor class A domain-containing protein 2 protein-coding ENSG00000187942 32071 18436 VALIDATED 735463 LDHB lactate dehydrogenase B This gene encodes an enzyme which catalyzes the reversible conversion of lactate and pyruvate, and NAD and NADH, in the glycolytic pathway. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on the X chromosome and on chromosome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2010] 12 12 p12.2-p12.1 21679543 21702043 - 21788275 21810789 - 1300048;1580863;6480464;6907045;7240710 7821789;22752059;22939629;21145461;21319273;8314553;16130169;18593994;17178662;16236267;15592455;15489334;12555229;12477932;12160330;11509017;11276087;10509905;10508479;10211631;9929983;8611651;8462975;3435492;2930497;2334429;1587525;1371976;1081369;11582518;11125887;15710247;7273846;20951115;20877624;21199794;20592382;20499337;21356207;16196087;19135240;20000738;15492215;23184937;23437403;22863883;22990118;19786724;19738201;21988832;22304920;22623428;22892192;23000965;23246001;23349634;18457437;18781797;19596686;20639865;21139048;21858537;21890473;21906983;21963094;21987572;22027740;22248949;22461886;21044950;15576338;19338310;23266049;21853274;22053931;22268729;22505724;22807456;22891270;23139210 3945 A8MW50;C9J7H8;F5H793;P07195;Q5U077 AB209231;ABBA01067971;AC010197;AK129881;AK312328;AL516910;AMYH01004319;AY189689;BC002362;BC015122;BC022835;BC071860;BT019764;BT019765;CH471094;CX867875;D28368;EU919185;NG_017038;NM_001174097;NM_002300;X13794;X13800;Y00711 AAH02362;AAH15122;AAH71860;AAO85222;AAV38569;AAV38570;ABM82780;ACF98331;BAA05734;BAD92468;BAG35250;CAA32033;CAA68701;EAW96448;EAW96449;NP_001167568;NP_002291;P07195 Hs.446149 1688108;1743995;1754067;1772070;1782778;1847212;2186327;5109747 D13S838E;G07018;GDB:384749;RH15605;SHGC-12682;SHGC-132102;SHGC-173311;STS-X13800 LDH-B;LDH-H;LDHBD;TRG-5 L-lactate dehydrogenase B chain;LDH heart subunit;LDH-B;OTTHUMP00000165228;OTTHUMP00000165229;OTTHUMP00000165231;lactate dehydrogenase H chain;renal carcinoma antigen NY-REN-46 APPROVED protein-coding ENSG00000111716 6541 01026 150100;614128 REVIEWED 1605868 LDLRAD3 low density lipoprotein receptor class A domain containing 3 11 11 11 p13 36112827 36400880 + 35922188 36209417 + 35965612 36252841 + 6480464 16303743;12477932;20379614;20410850;21795536;19322201 143458 B7Z1U3;E9PR86;Q86YD5 ABBA01060850;ABBA01060851;ABBA01060852;AC026269;AC087277;AC129502;AK075546;AK293930;AK299186;AL136146;AMYH01003490;AMYH01003491;AMYH01003492;AMYH01003493;BC042754;BC136286;BC143823;BC143824;CH471064;CS051393;NM_174902 AAH42754;AAI36287;AAI43825;BAC11689;BAH11629;BAH12964;CAI72191;EAW68125;EAW68126;EAW68127;NP_777562;Q86YD5 Hs.636203 1338334;1340462;1667486;1719357;1749289;1755563;1779220;1782400;1782406;2162693;7187874 D11S4185;D11S4419;D11S935;RH123406;RH45480;SHGC-110963;SHGC-142418;SHGC-152853;SHGC-154579;SHGC-154746 LRAD3 OTTHUMP00000232573;OTTHUMP00000232574;OTTHUMP00000232575;low-density lipoprotein receptor class A domain-containing protein 3 protein-coding 27046 14063 PROVISIONAL 735594 LDLR low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] 19 19 p13.2 11061132 11105490 + 11200038 11244506 + 1580510;1581823;1580998;1581826;1331525;1581824;1580863;1626106;2324626;2324630;5490243;5490246;5490253;5490254;5490232;5490242;5490245;5490248;1581819;5490239;5490241;5490244;5490231;5490255;6480464;6907045;7240710;7241070 15526154;16459141;12730697;12969990;15118671;16796766;17380167;18054320;17288738;16378661;12209363;19811272;18316222;15689450;12873747;1867200;16741953;17239995;16741934;15585340;21755005;9614153;21795641 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3949 H0YM92;H0YMD1;H0YMQ3;J3KMZ9;Q53ZD9 AA292214;AB209409;ABBA01029871;ABBA01029872;ABBA01029873;ABBA01029874;AC011485;AF217403;AK295612;AK296312;AK299038;AK300313;AMYH01009482;AMYH01009483;AY114155;AY324609;AY504954;BC014514;BM785950;BT007361;BX648281;CH471106;CS173038;DA008286;DB081391;DC306821;FJ525879;L00352;L29401;M28219;NG_009060;NM_000527;NM_001195798;NM_001195799;NM_001195800;NM_001195802;NM_001195803;S40543;S70123;U59436 AAA56833;AAA59509;AAB02658;AAB22609;AAB30338;AAF24515;AAH14514;AAM56036;AAP36025;AAP72971;AAR98971;ABM84805;ACN81317;BAD92646;BAG58495;BAG59010;BAG61112;BAG62065;CAJ33700;EAW84168;EAW84169;EAW84170;EAW84171;EAW84172;NP_000518;NP_001182727;NP_001182728;NP_001182729;NP_001182731;NP_001182732;P01130 Hs.213289;Hs.713981 1341372;1648220;1655394;1694902;1722445;1740975;1741171;1741605;1741653;1741811;1741919;1741991;1745279;1745635;1745689;1745691;1792126;1792128;1794406;2169343;5014051;5015619;5016478;5022651;5037552;5120702 D11S2921;D11S3114;D19S1126;D19S584;D8S2278;D8S2279;G44338;G60299;GDB:177082;GDB:178396;GDB:181559;GDB:181630;GDB:185228;GDB:186840;GDB:187708;GDB:371455;GDB:434012;GDB:597677;GDB:626790;GDB:631903;GDB:631909;PMC137182P7;PMC137182P8;PMC311069P3;RH66831;STS-M28219 FH;FHC;LDLCQ2 LDL receptor;low density lipoprotein receptor;low-density lipoprotein receptor;low-density lipoprotein receptor class A domain-containing protein 3 1643248 BW138_H APPROVED protein-coding ENSG00000130164 6547 06091 143890;606945 REVIEWED 1345067 LDOC1L leucine zipper, down-regulated in cancer 1-like 22 22 22 q13.31 28800351 28805906 - 43267114 43272669 - 44888450 44894005 - 6480464 18029348;16093683;15716091;15461802;12477932;11230166;20562859;20811636 84247 Q6ICC9;Q9BQJ3 ABBA01017866;AK126304;AK296479;AK313688;AL023973;AL136553;AMYH01012837;BC018713;BC030232;BX648506;CR456439;NM_032287;Z75407 AAH30232;BAG36437;BAG59119;CAB66488;CAG30325;CAK54468;CAK54767;NP_115663;Q6ICC9 Hs.332795 1671430;2172646;2185838 A007A35;RH45500;WI-14034 DKFZp761O17121;Mar6;Mart6;dJ1033E15.2 OTTHUMP00000197431;leucine zipper protein down-regulated in cancer cells-like;mammalian retrotransposon-derived protein 6;protein LDOC1L protein-coding ENSG00000188636 13343 13982 VALIDATED 1347278 LECT1 leukocyte cell derived chemotaxin 1 This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 13 13 q14.3 52175400 52211948 - 53277399 53313947 - 737626;1580863;6480464 10103018 18077449;17980151;16980969;16142856;15107420;14744535;12477932;11323410;10912526;10750556;10570955;9731231;20663886;20026108;15174051;21150319;23143879;22041680 11061 E9PKI9;O75829 AB005999;AB006000;AB021290;ABBA01037066;AF050147;AL139085;AL139089;AMYH01005126;AY368652;BC025659;CH471124;CR541910;NM_001011705;NM_007015 AAC98971;AAH25659;AAQ72693;BAA33443;BAA77384;BAA86262;CAG46708;EAW52047;EAW52048;NP_001011705;NP_008946;O75829 Hs.421391 1679087;2111154;2111670;5023103 D13S1589;D13S300;RH92491;btcn2277 BRICD3;CHM-I;CHM1;MYETS1 BRICHOS domain containing 3;OTTHUMP00000018466;OTTHUMP00000235443;chondromodulin I;chondromodulin-1;chondromodulin-I;leukocyte cell-derived chemotaxin 1;multiple myeloma tumor suppressor 1 APPROVED protein-coding ENSG00000136110 17005 05511 605147 REVIEWED 1344664 LDOC1 leucine zipper, down-regulated in cancer 1 The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008] X X X q27 140808897 140810277 + 140097596 140098976 - 140269930 140271310 - 1580863;6480464 16093683;15772651;15716091;15670815;15588942;15489334;12712434;12477932;16189514;10403563;21986234;19060904;21310924;21547351;21139048;22546831 23641 O95751 AB019527;ABBA01007703;AC234778;AF086537;AL109799;AMYH01023084;BC003104;CH471170;CR457088;NM_012317 AAH03104;ABZ92315;BAA34364;CAC18891;CAG33369;EAW78004;NP_036449;O95751 Hs.45231 1795216;5016035 LDOC1;bG82i1.9,_DNA_segment_containing_(CA)_repeat BCUR1;Mar7;Mart7 OTTHUMP00000024174;breast cancer, up-regulated 1;leucine zipper protein down-regulated in cancer cells;protein LDOC1 APPROVED protein-coding ENSG00000182195 6548 02322 300402 REVIEWED 1601831 LEAP2 liver expressed antimicrobial peptide 2 LEAP2 is a cysteine-rich cationic antimicrobial peptide (Krause et al., 2003 [PubMed 12493837]).[supplied by OMIM, Mar 2008] 5 5 5 q31.1 128339383 128340607 + 132237257 132238481 + 132209358 132210582 + 6480464 15489334;12493837;12477932;19852990;20038463;20379614;20845358;22318606 116842 Q7Z5F5;Q969E1 ABBA01068794;AC004500;AF143867;AJ306405;AJ409064;AJ409065;AMYH01015617;AY052782;BC070199;BX443829;CH471062;NG_030340;NM_052971 AAH70199;AAL14242;CAC51306;CAC51515;CAC51516;EAW62306;EAW62307;NP_443203;Q969E1 Hs.337588 1697030;1803498;1805654;1806800;2002250;2002252;2002254;2002256;2002258;2002260;2002262;2002264;2002266;2002268;2002270;2002272;2002274;2002276;2002278;2002280;2096586;2096588;2116327 ECD02647;ECD03777;ECD04362;REN72037;REN72038;REN72039;REN72040;REN72041;REN72042;REN72043;REN72044;REN72045;REN72046;REN72047;REN72048;REN72049;REN72050;REN72051;REN72052;RH101992;STS-R93723;stSG601588;stSG601589 LEAP-2 OTTHUMP00000066208;liver-expressed antimicrobial peptide 2 APPROVED protein-coding 29571 17269 611373 VALIDATED 1313099 LDLRAD4 low density lipoprotein receptor class A domain containing 4 18 18 18 p11.21 13101030 13535088 + 13208795 13642753 + 13218786 13652753 + 6480464 9479497;19430479;16344560;15489334;14702039;12477932;9399696;9129712;7566098;19834535;20379614;17207965;22505724;15074360;8889548;19461657;23180869 753 A8K6A9;K7EJM9;K7EKD6;K7EMG1;K7EN38;O15165 AA310737;ABBA01074036;ABBA01074037;ABBA01074038;ABBA01074039;ABBA01074040;ABBA01074041;ABBA01074042;AF009424;AF009425;AF009426;AF009427;AF009428;AF009429;AF009430;AF009431;AF009432;AF009433;AF009434;AF009435;AF009436;AF009437;AI668861;AI878844;AK023474;AK055028;AK291574;AMYH01008845;AMYH01008846;AMYH01008847;AMYH01008848;AMYH01008849;AP001010;AP002439;AP002505;AP005131;BC029958;BC030199;BC047093;BC066971;BM715555;BM805426;BM917439;BM991627;BX114947;CH471113;CR748400;DA126127;DA246476;DA276009;DA321390;DA369876;DA391326;DA412541;DA418068;DB107684;DB272592;DC327672;DC328561;H04910;HY115972;HY309264;JA738551;JA738553;JA738555;JA738557;JA738559;JA738561;N48737;N63974;NM_001003674;NM_001003675;NM_001276249;NM_001276251;NM_004338;NM_181481;NM_181482;NM_181483 AAC52023;AAC52024;AAC52025;AAC52026;AAH30199;AAH66971;ADQ31925;BAF84263;BAG51451;CCF76928;CCF76929;CCF76930;CCF76931;CCF76932;CCF76933;EAX01511;EAX01512;EAX01513;EAX01514;NP_001003674;NP_001003675;NP_001263178;NP_001263180;NP_004329;NP_852146;NP_852147;NP_852148;O15165 Hs.731853;Hs.745141 1649033;1650007;1658314;1662652;1671454;1676408;1679591;1688668;1689153;1708728;1722019;1740219;1762767;1765885;1777724;1848922;1848924;2127791;2128008;2151365;2154410;2163754;2176999 A005V34;D18S1074;D18S852;G20539;G29169;G59896;RH15947;RH16027;RH16149;RH48512;RH65178;RH70515;RH75211;RH79722;RH92128;SHGC-146549;SHGC-149303;SHGC-56441;SHGC-58439;SHGC-81577;STS-AA001607;WI-15670;WIAF-2137 C18orf1 clone 22;hypothetical protein LOC753;low-density lipoprotein receptor class A domain-containing protein 4;uncharacterized protein C18orf1 APPROVED protein-coding ENSG00000168675 1224 07358 606571 VALIDATED 1313416 LECT2 leukocyte cell-derived chemotaxin 2 This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008] 5 5 q31.1 135310499 135318622 - 135282600 135290723 - 1580863;6480464 8877413;9545637;9266841;19240061;15561249;15561248;15489334;15372022;15243190;15239100;12477932;11752456;10857804;9832057;9524238;20237496;20951486;22318606;21394108;21139048 3950 D6RD58;D6RGX8;E5RHW6;O14960 AB007546;ABBA01068719;AC002428;AC004763;AK314092;AMYH01015630;AV661075;BC093670;BC101579;BI825931;CH471062;D63521;NM_002302 AAB66905;AAC17734;AAH93670;AAI01580;BAA23609;BAA25669;BAG36787;EAW62201;NP_002293;O14960 Hs.512580 2184107;2217556 LECT2_3048;RH68467 MGC126628;chm-II;chm2 OTTHUMP00000159422;OTTHUMP00000223349;OTTHUMP00000228311;chondromodulin-II;leukocyte cell-derived chemotaxin-2 APPROVED protein-coding ENSG00000145826 6550 04196 602882 REVIEWED 1606809 LDLRAP1 low density lipoprotein receptor adaptor protein 1 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008] 1 1 p36-p35 25742663 25767964 + 25870076 25895377 + 1626106;1626107;6480464;6907045;7240710 17380167;15599766 12746448;12451172;12221107;15166224;14528014;19477448;18417616;17727637;17686643;16984970;16870701;16710414;16344560;16189514;16129683;15728179;15497461;15489334;14702039;12788851;12535754;12477932;12464675;12417523;12016260;11897284;11326085;19913121;20628086;12805363;19081568;20124734;20237496;21444685;19841541;21778424;21139048;21872251;21906983;22509010;21915095;23000965;20686565 26119 B3KR97;Q5SW96 ABBA01017760;AK024397;AK091219;AK124554;AK309850;AK309853;AL117654;AL606491;AMYH01000390;AY389348;BC029770;BX572623;CH471059;DA930479;NG_008932;NM_015627 AAH29770;AAQ90407;BAB14908;BAG52309;CAB56030;EAX07872;EAX07873;EAX07874;EAX07875;NP_056442;Q5SW96 Hs.590911 1657451;1692992;1756999;2109057;2152995;2173829;5019889;5093424 A009O34;AL034214;ARH_9459;G32710;G54707;SHGC-144355;SHGC-74391;SHGC-74429 ARH;ARH1;ARH2;DKFZp586D0624;FHCB1;FHCB2;MGC34705 LDL receptor adaptor protein;OTTHUMP00000008526;autosomal recessive hypercholesterolemia protein;low density lipoprotein receptor adapter protein 1 APPROVED protein-coding ENSG00000157978 18640 05765 603813;605747 REVIEWED 6483969 LEF1-AS1 LEF1 antisense RNA 1 4 q25 109088681 109097586 + 12477932;16751776 641518 Q8WUE9 ABBA01063759;AC097067;AMYH01014453;BC020624;BC041819;BC067877;NR_029373;NR_029374 AAH20624 Hs.535760 1708008;1785042;5124570 RH99070;SHGC-154060;SHGC-84673 APPROVED miscrna ENSG00000232021 40339 VALIDATED 6766461 LEMD1-AS1 LEMD1 antisense RNA 1 1 q32.1 205342380 205356568 + 14702039 284576 ABBA01027417;ABBA01027418;AC098936;AK090497;AMYH01001670;NR_038425 Hs.585440 1690426;5016478;5022651 D11S2921;GDB:434012;RH92566 APPROVED miscrna ENSG00000226235 44132 VALIDATED 1605790 LEKR1 leucine, glutamate and lysine rich 1 3 3 3 q25.31 154967679 155187419 + 158026790 158246612 + 156544096 156763918 + 6480464 16344560;19010793;14702039;20372150;12477932;21441570;22073261;22911880;22504420 389170 D3DNK7;J3KP02;Q6ZMV7 ABBA01058836;ABBA01058837;AC092993;AC106708;AC117392;AK094480;AK131473;AMYH01013600;BC041967;CH471052;DA075031;NM_001004316;NM_001193283 BAD18618;EAW78718;EAW78719;EAW78720;EAW78721;EAW78722;NP_001004316;NP_001180212;Q6ZMV7 Hs.478048 1679479;1686358;1688845;1715055;1729313;2106167 D6S2755;G64202;RH119479;RH27392;RH64874;RH93270 FLJ16641;FLJ37161 OTTHUMP00000213222;OTTHUMP00000217608;leucine-, glutamate- and lysine-rich protein 1 protein-coding ENSG00000197980 33765 16915 613536 VALIDATED 1346619 LEMD1 LEM domain containing 1 1 1 1 q32.1 178485686 178526349 - 203617136 203657804 - 205350506 205391214 - 6480464 12477932;15254688;20682177;17207965 93273 Q68G75 AB084764;AB084765;AB085610;AB096677;AB096678;AB096679;AB096680;AB096681;AB096682;ABBA01027415;ABBA01027416;ABBA01027417;AC098936;AI923802;AK026628;AK302392;AMYH01001670;BC036636;CH471067;DC399934;NM_001001552;NM_001199050;NM_001199051;NM_001199052;NR_037583 AAH36636;ADQ31927;BAD20779;BAD20780;BAD20781;BAD20782;BAD20783;BAD20784;BAD20785;BAD20786;BAD20787;BAG63707;EAW91554;EAW91555;EAW91556;EAW91557;EAW91558;NP_001001552;NP_001185979;NP_001185980;NP_001185981;Q68G75 Hs.655520;Hs.733328 1679099;1690426;2144975 G16259;RH80907;RH92566 CT50;LEMP-1 LEM domain protein 1;LEM domain-containing protein 1;OTTHUMP00000035323;OTTHUMP00000035324;OTTHUMP00000035325;cancer/testis antigen 50 protein-coding ENSG00000186007 18725 13983 610480 VALIDATED 1348079 LEFTY2 left-right determination factor 2 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2010] 1 1 q42.1 224190926 224195543 - 226124298 226129083 - 1598793;6480464;6907045;7240710 10902804 21401636;10053005;9153275;3457014;17038673;16303743;15536155;15308665;14702039;12477932;12215426;11100524;10886363;9665343;9496783;9230066;20634891;16344560;20734064;21266536;21988832;22469982 7044 O00292 AA922485;ABBA01009662;AF081508;AF081509;AF081510;AF081511;AF081513;AK027520;AK075344;AK094077;AK304549;AL117348;AMYH01001774;AMYH01001775;BC035718;BC065929;CH471098;DA269806;NG_008118;NM_001172425;NM_003240;U81523 AAB53269;AAC32600;AAD48145;AAH35718;ADZ15929;BAC11556;BAG51336;BAG65344;EAW69766;EAW69767;NP_001165896;NP_003231;O00292 Hs.520187 1795722 EBAF_62 EBAF;LEFTA;LEFTYA;MGC46222;TGFB4 OTTHUMP00000035570;TGF-beta-4;endometrial bleeding associated factor;endometrial bleeding-associated factor;left-right determination factor 2;left-right determination factor A;protein lefty-2;protein lefty-A;transforming growth factor beta-4 APPROVED protein-coding ENSG00000143768 3122 03526 601877 REVIEWED 735736 LEF1 lymphoid enhancer-binding factor 1 This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q23-q25 109188150 109309027 - 108968701 109090112 - 1580863;2293188;2298717;2298720;2301908;6480464;6907045;7240710 18432252;14520463;16459154;10528152 9751710;12192039;9308964;18029348;19244345;19079342;19060910;18936100;18636547;18615589;18579517;18316418;17947518;17785445;17785436;17585052;17466981;17360796;17240357;17132729;17063141;16809766;16714285;16565724;16474850;16424171;16415175;16142310;16120831;15756419;15750622;15728254;15489334;15245424;15194563;15143193;15000148;14990565;14759258;12901858;12748295;12707037;12589056;12556497;12477932;12446687;12235165;12183361;12161443;12095232;12052822;12048204;12032083;11731474;11696550;11604490;11440173;11326276;22261717;10890911;11266540;10756202;10644691;9671491;9488439;9119228;9119227;8757136;8631802;8125298;7958926;7537238;2010090;1989880;1827423;1783375;15684397;9843967;12551949;15525529;21471213;22436613;22837378;21285352;21444716;7657162;20363964;20211142;20595513;16510874;19304756;11751639;12408825;10825188;14661054;16344550;19131506;19351848;19402906;19453261;19576624;19590514;19653274;19784072;20019092;20098615;20124220;20219685;20332099;20676368;18445004;18794125;19620402;20634891;16204248;16510875;17980157;21270130;10958684;11835406;21190562;22905168;23068607;18077326;19460168;21383983;21282610;21527502;16014379;21781440;21795403;21599871;21980470;21544627;12077367;22020335;21685909;21998751;22111711;16228014;21988832;22792274;22359570;22291604;22507326;18296023;22686279;23001182;9419974;22639890;23224985;22769578;15768032;20194509;21744004;22505724;22815426;22766851 51176 D6RAB1;D6RID7;D6RIV1;Q659G9;Q9UJU2 ABBA01063757;ABBA01063758;ABBA01063759;AC092539;AC097067;AC118062;AC123576;AF086339;AF198532;AF203908;AF288571;AF294627;AK128255;AK225772;AK294395;AK303143;AK303272;AL049409;AMYH01014451;AMYH01014452;AMYH01014453;AY129650;BC040559;BC050632;CH471057;DC405840;DC406065;JN232202;NG_015798;NM_001130713;NM_001130714;NM_001166119;NM_016269 AAF13268;AAG01022;AAG26886;AAH40559;AAH50632;AAN06089;ABZ92402;AEW16365;BAG57649;BAG64247;BAH13928;CAH56421;EAX06221;EAX06222;EAX06223;EAX06224;EAX06225;NP_001124185;NP_001124186;NP_001159591;NP_057353;Q9UJU2 Hs.743478 1648928;1717149;1718257;1785042;1796244;2120553 LEF1_1628;RH121496;RH122898;SHGC-154060;SHGC-18750;SHGC-18753 DKFZp586H0919;FLJ46390;LEF-1;TCF10;TCF1ALPHA;TCF7L3 LEF-1;OTTHUMP00000162624;OTTHUMP00000219736;OTTHUMP00000219737;OTTHUMP00000219738;T cell-specific transcription factor 1-alpha;TCF1-alpha;lymphoid enhancer binding factor 1;lymphoid enhancer-binding factor 1 APPROVED protein-coding ENSG00000138795 6551 01075 153245 REVIEWED 1343559 LEMD3 LEM domain containing 3 This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009] 12 12 q14 63849638 63928374 + 65563351 65642141 + 1580863;6480464;7240710 16470551;10671519;17622481;17505164;17223882;17081983;16648637;15681850;15647271;15601644;15489854;15231748;11896184;20618940;19438932;20083694;20732851;22939629;20360068;20678097;23000965;21966431;21139048;21906983;18729074 23592 Q9Y2U8 ABBA01026591;ABBA01026592;AC026124;AF112299;AF263918;AK024954;AK295406;AK304317;AK312473;AL137533;AMYH01004551;BX390128;CH471054;NG_016210;NM_001167614;NM_014319 AAD31593;AAF73293;AAI67864;BAG58357;BAG65169;CAB70796;EAW97148;EAW97149;NP_001161086;NP_055134;Q9Y2U8 Hs.744150 1338520;1706454;1739713;1746497;1772956;2128810;2164994;5016197;5038486 1930;D12S1499;D12S1649;G60068;G64501;SHGC-37256;SHGC-80813;U28794;WI-14580 MAN1 LEM domain-containing protein 3;OTTHUMP00000239603;inner nuclear membrane protein Man1;integral inner nuclear membrane protein APPROVED protein-coding ENSG00000174106 28887 09704 155950;166700;607844 REVIEWED 1350052 LENG10 leukocyte receptor cluster (LRC) member 10 q13.4 10941842 94057 AF211977 Hs.684553 protein-coding 16308 1353076 LENG11 leukocyte receptor cluster (LRC) member 11 q13.4 10941842 94058 AF211978 protein-coding 16307 1344892 LENG3 leukocyte receptor cluster (LRC) member 3 q13.4 10941842 79164 AF211968 Hs.631579 protein-coding 15498 1345619 LENG6 leukocyte receptor cluster (LRC) member 6 q13.4 10941842 79163 AF211971 protein-coding 15499 1604741 LELP1 late cornified envelope-like proline-rich 1 1 1 1 q21.3 126246418 126248095 + 151442543 151444220 + 153175919 153177596 + 6480464 17387579;16710414;15489334;12477932;16344560 149018 Q5T871 ABBA01049433;AL161636;AMYH01001403;AX971667;BC087854;BC130507;BC130511;DB069578;DB086762;HC007078;HC044831;NM_001010857 AAH87854;AAI30508;AAI30512;ADR82795;CAF16775;CBH19344;CBH30745;NP_001010857;Q5T871 Hs.125785 OTTHUMP00000015821;late cornified envelope-like proline-rich protein 1;novel small proline rich protein;novel small proline-rich protein protein-coding ENSG00000203784 32046 17303 611042 VALIDATED 1350904 LEFTY1 left-right determination factor 1 This gene encodes a member of the TGF-beta family of proteins. A similar secreted protein in mouse plays a role in left-right asymmetry determination of organ systems during development. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Jul 2008] 1 1 1 q42.1 199265024 199267877 - 224140605 224143459 - 226073982 226076846 - 6480464;6907045 10053005;17038673;16710414;15489334;15308665;12975309;12477932;11100524;10886363;8125298;21401636;19913121;20628086;19874624;20734064;23407711;21266536;22441145 10637 O75610 ABBA01009662;AF081504;AF081505;AF081506;AF081507;AF081512;AK129605;AK222714;AK309263;AK313115;AL117348;AMYH01001774;AY358873;BC027883;CH471098;NM_020997 AAC33967;AAD48144;AAH27883;AAQ89232;ABM87625;BAD96434;BAG35937;EAW69760;NP_066277;O75610 Hs.656214 2108805 LEFTB_9158 LEFTB;LEFTYB OTTHUMP00000035572;left-right determination factor 1;left-right determination factor B;left-right determination, factor B;protein lefty-1;protein lefty-B APPROVED protein-coding ENSG00000243709 6552 09116 603037 REVIEWED 1313312 LEMD2 LEM domain containing 2 6 6 6 p21.31 35293376 35311312 - 33846968 33864874 - 33738990 33756906 - 6480464 16303743;12477932;8889548;19720741;20558539;18029348;19851445;16339967;21890473;19531213;22005931;22810585;23251661 221496 D6R958;D6RBV0;H0Y8H8;H0Y9B7;H7C2Z0;Q8NC56 ABBA01038163;AK024858;AK026077;AK074959;AK127084;AK301083;AK309888;AL158049;AMYH01016249;BC039864;BC051803;BM978238;CH471081;CQ782927;DC340017;NM_001143944;NM_181336 AAH51803;BAC11316;BAG62687;CAF86155;EAX03750;EAX03751;NP_001137416;NP_851853;Q8NC56 Hs.444845 1665416;1665418 RH46686;WI-14169 NET25;dJ482C21.1 LEM domain-containing protein 2;OTTHUMP00000016218;OTTHUMP00000222574;OTTHUMP00000222575;hLEM2 protein-coding ENSG00000161904 21244 13984 VALIDATED 1314652 LENG8 leukocyte receptor cluster (LRC) member 8 19 19 19 q13.42 52000644 52013775 + 59652213 59665008 + 54960065 54973196 + 6480464 11572484;16713569;16344560;16239144;16189514;15146197;12477932;21145461;10941842;20936779 114823 B0VJY8;C9J1N5;C9JMY0;E7EQP8;E7EWC7;F8W9Q9;H7BZP5;Q96PV6 AB067519;ABBA01068157;AC008746;AF211973;AF211974;AF211975;AF318338;AL834532;AMYH01009976;BC028048;CH471135;CN403513;CU207370;CU467002;DB284556;NM_052925 AAH28048;AAL55845;ABM83630;ABM85179;ABM86874;ABW03700;BAB67825;CAD39188;EAW72248;EAW72249;EAW72250;NP_443157;Q96PV6 Hs.502378;Hs.744596 1802542;1802914;1804338;1804952;1808516;1810620;1811452;1814192;1816752;1817292;1818434;1818800;1819116;1819904;1822370;1828674;2043674;2043676;2043678;2043680;2043682;2043684;2043686;2043688;2043690;2043692;2043694;2043696;2043698;2043700;2043702;2043704;2043706;2043708;2043710;2043712;2043714;2043716;2043718;2043720;2043722;2043724;2043726;2043728;2043730;2043732;2043734;2043736;2043738;2043740;2043742;2043744;2043746;2043748;2043750;2043752;2043754;2043756;2043758;2043760;2043762;2043764;2043766;2043768;2043770;2043772;2043774;2043776;2043778;2043780;2043782;2043784;2043786;2043788;2043790;2043792;2043794;2043796;2043798;2043800;2043802;2043804;2103976;2103978;2103980;2103982;2103984;2103986;2103988;2103990;2103992;2103994;2103996;5111901 ECD02157;ECD02346;ECD03093;ECD03416;ECD05240;ECD06303;ECD06725;ECD08125;ECD09420;ECD09696;ECD10276;ECD10464;ECD10624;ECD11023;ECD12273;ECD15464;G42657;REN92887;REN92888;REN92889;REN92890;REN92891;REN92892;REN92893;REN92894;REN92895;REN92896;REN92897;REN92898;REN92899;REN92900;REN92901;REN92902;REN92903;REN92904;REN92905;REN92906;REN92907;REN92908;REN92909;REN92910;REN92911;REN92912;REN92913;REN92914;REN92915;REN92916;REN92917;REN92918;REN92919;REN92920;REN92921;REN92922;REN92923;REN92924;REN92925;REN92926;REN92927;REN92928;REN92929;REN92930;REN92931;REN92932;REN92933;REN92934;REN92935;REN92936;REN92937;REN92938;REN92940;REN92941;REN92942;REN92943;REN92944;REN92945;REN92946;REN92947;REN92948;REN92949;REN92950;REN92951;REN92952;REN92953;stSG606070;stSG606073;stSG606074;stSG606075;stSG606076;stSG606077;stSG606078;stSG606079;stSG606080;stSG606081;stSG606082 KIAA1932;MGC40108;pp13842 OTTHUMP00000068189;OTTHUMP00000199725;OTTHUMP00000211766;leukocyte receptor cluster member 8 protein-coding ENSG00000167615 15500 11226 VALIDATED 1317415 LENG1 leukocyte receptor cluster (LRC) member 1 19 19 19 q13.4 51700663 51704732 - 59351189 59355258 - 54659377 54663446 - 6480464 15489334;12477932;10941842;16169070;21832049;21900206 79165 Q96BZ8 ABBA01068172;AC012314;AF211966;AMYH01009976;BC014986;CH471135;CU151838;CU457734;NM_024316 AAG01393;AAH14986;ABM83146;ABM86343;ABM86344;EAW72195;NP_077292;Q96BZ8 Hs.590974 1697682;1805324;1818290;1823866;1825348;1826426;1826884;1828446;1838472;2041430;2041432;2041434;2041436;2041438;2041440;2041442;2041444;2041446;2041448;2041450;2041452;2041454;2041456;2041458;2041460;2041462;2041464;2041466;2041468;2041470;2041472;2041474;2041476;2041478;2041480;2041482;2103632;2103634;2103636;2106999 CNOT3_7840;ECD03609;ECD10202;ECD13025;ECD13780;ECD14327;ECD14557;ECD15349;ECD20410;REN91750;REN91751;REN91752;REN91753;REN91754;REN91755;REN91756;REN91757;REN91758;REN91759;REN91760;REN91761;REN91762;REN91763;REN91764;REN91765;REN91766;REN91767;REN91768;REN91769;REN91770;REN91771;REN91772;REN91773;REN91774;REN91775;REN91776;RH102357;stSG605833;stSG605834;stSG605835 OTTHUMP00000069306;leukocyte receptor cluster member 1 protein-coding 15502 13985 PROVISIONAL 69166 LENEP lens epithelial protein The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008] 1 1 1 q22 128037086 128037815 + 153232686 153233415 + 154966062 154966791 + 68892;1580863;6480464 10655141 7641850;16710414;15489334;12477932;11376938;8889548 55891 Q9Y5L5 AB451457;ABBA01016723;AF144412;AF268478;AL451085;AMYH01001420;BC069140;BC096714;BC098148;BC098246;BC098253;BM716801;CH471121;NM_018655 AAD38378;AAF73074;AAH69140;AAH96714;AAH98148;AAH98246;AAH98253;BAG70271;EAW53152;NP_061125;Q9Y5L5 Hs.272399 2157760;2220372;5493045 RH64598;UniSTS:480850;UniSTS:484009 LEP503 OTTHUMP00000035554;lens epithelial cell protein LEP503 APPROVED protein-coding ENSG00000163352 14429 09569 607377 REVIEWED 1317999 LENG9 leukocyte receptor cluster (LRC) member 9 19 19 19 q13.4 52013555 52015473 - 59664788 59666706 - 54972976 54974894 - 1580863;6480464 15489334;12477932;10941842;21906983 94059 Q96B70 ABBA01068157;AC008746;AF211976;AMYH01009976;BC015921;CH471135;CU207370;CU467002;NM_198988 AAH15921;EAW72251;NP_945339;Q96B70 Hs.590976 1805106;1806698;1806946;1819904;1828982;2043798;2043800;2043802;2043804;2043806;2043808;2043810;2043812;2043814;2043816;2043818;2043820;2043822;2043824;2043826;2043828;2043830;2103998 ECD03495;ECD04306;ECD04438;ECD11023;ECD15618;REN92950;REN92951;REN92952;REN92953;REN92954;REN92955;REN92956;REN92957;REN92958;REN92959;REN92960;REN92961;REN92962;REN92963;REN92964;REN92965;REN92966;stSG606083 OTTHUMP00000068392;leukocyte receptor cluster member 9 protein-coding ENSG00000182909 16306 13986 VALIDATED 735832 LEPR leptin receptor The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010] 1 1 p31 65658906 65875410 + 65886335 66103176 + 1600611;1600612;1581846;1331525;1625125;1580863;1357910;1357909;2311129;2311144;729297;2311138;2311139;2311141;2311142;5129122;5128846;5129123;5129163;5128855;5128823;5128813;5129161;5128873;5129154;5128718;6480464;6907045;7240710 17229951;8841178;11460888;15118671;17010638;15703762;12079865;19337797;17065694;8702432;18632178;18564365;18439701;18413223;18469142;21148797;15284063;20422702;18204169;18006469;19196818;10999797;11896492;20592105;16021089 21173748;22082804;22411388;17474147;19167335;9537324;19491387;19453261;19427969;19401628;19367093;19344216;19279251;19273568;19246519;19208204;19202898;19191138;19156569;19142102;19140314;19086053;19077438;19060910;15159310;15153666;15135067;15132731;15131772;15130412;15126576;15123629;15044660;15016839;14998906;14984939;14972512;14970363;14967380;14718574;14702039;14636218;14625131;14602796;14599116;14521752;12898374;12824284;12823393;12788897;12734179;12732844;12712467;12679465;12660261;12646666;12634434;12512839;19058789;19035456;19023160;19017403;19010917;19010916;18997673;18996102;18992263;18978578;18958356;18955751;18941624;18939509;18924534;18855010;18854995;18836419;18829234;18828733;18716356;18716353;18713300;18703626;18702008;18676680;18668212;18660489;18636124;18573568;18552512;18544975;18510797;18496130;18492761;18490929;18473416;18439548;18426866;18398047;18357374;18292831;18282109;18273796;18249219;18241826;18212354;18165436;18086776;18059035;18050615;18004080;17989154;17983356;17785359;17726024;17680264;17649682;17618952;17615382;17591803;17428620;17415990;17404022;17350295;17285096;17243864;17212806;17192493;17142261;17124363;17072067;17071538;17032406;17031518;17006991;16971225;16920065;16847749;16807515;16793957;16792872;16788891;16684815;16645018;16609020;16580675;16571841;16540470;16533767;16522905;16504019;16412323;16359991;16352686;16335952;16333525;16231024;16160698;16011872;15997246;15972940;15950978;15944317;15941977;15869602;15840566;15834329;15833934;15784711;15771593;15715521;15660115;15624271;15585384;15564891;15544427;15476448;15337805;15324935;15286449;15254881;15240636;15240518;15192829;15189365;15161768;12489569;12477932;12461680;12457453;12396559;12364439;12359239;12270921;12226096;12199340;12187394;12140788;12105280;12100031;12504075;12091248;12086939;12075579;12075576;12054170;12032747;12010881;12006639;11994543;11911959;11729160;11549688;11549273;11508653;11448122;11443193;11380591;11360161;11360155;11354636;11344130;11279102;11078732;11018044;10449753;10198230;9929394;9860295;9819414;9786864;9667233;9600917;9405487;9287054;9207021;9175732;9158141;9144432;9061609;22261091;8812446;8805376;8743992;8666155;8616721;8608603;8548812;11585385;16169070;22647716;21931325;19913121;20562674;20565774;20585554;20591628;20602615;20628086;20679960;20733583;20739548;20814201;19717488;21162893;21454707;21744741;11743056;18657007;19170196;19241089;19520793;19539983;19567438;19584180;19608021;19622243;19625176;19692168;19697123;19723917;19727025;19747414;19773373;19818126;19913498;19919993;19959759;20008098;20032477;20070288;20149225;20167575;20178606;20183928;20185531;20213209;20220325;20222875;20304616;20379614;20410123;20416077;20453000;20468064;20491703;20502402;20503258;20517895;20045163;19775291;20156757;20624279;20546344;20569445;17828512;20519646;20443680;20455195;20871818;20874424;11123508;20538960;20734064;20800603;20855565;20873117;21031055;21050724;21207066;21166956;21204206;21035519;21393862;21300955;23070544;22666733;22713493;22898217;22975643;21306929;21159927;21239736;21233811;21574190;21056886;22863437;21648011;21233812;22426215;21547863;21631924;21334312;21870704;21887553;22028824;21983736;21720710;21900206;21927908;21510767;21965750;22983835;23090836;21698367;22127368;22215535;22530350;21347230;21512510;21575521;21948653;22228719;22265003;22397037;22214336;22391636;21846818;21921635;21931794;22076163;22207628;22279209;21938427;22278432;21378310;21584748;21943151;22479352;22545089;22615788;22746211;23026206;22293279;23009903;22939635;22987225;23054017;23335226;23199901;23575542;21602135;22734460;22961938;23429533;23563609;22328135;22836631;23184927;22362850;23046934;22537818 3953 A2RRQ4;P48357;Q4G138 AA813024;ABBA01074542;ABBA01074543;AC097063;AC119800;AI436180;AK001042;AK290208;AMYH01000686;AMYH01000687;AW302522;BC031086;BC035120;BC131779;BX475249;CQ860097;NG_015831;NM_001003679;NM_001003680;NM_001198687;NM_001198688;NM_001198689;NM_002303;U43168;U50748;U52912;U52913;U52914;U59263;U66495;U66496;U66497 AAA93015;AAB07495;AAB07496;AAB07497;AAB09673;AAC23650;AAC50509;AAC50510;AAC50511;AAH31086;AAI31780;AAI60009;BAF82897;CAH25983;NP_001003679;NP_001003680;NP_001185616;NP_001185617;NP_001185618;NP_002294;P48357 Hs.23581;Hs.723178 1667902;1672969;1680799;1693058;1698160;1725781;1750061;1767893;1790377;1793324;1793966;1797934;1853853;1853855;2110547;2113238;2114845;2122315;2159694;2162897;2183596;2218784;5107070 A005R18;AL009879;AL034254;D1S3710;D1S3711;G20438;G62073;LEPR-2;LEPR_4006;MARC_46109-46110:1108421773:4;OBRGRP_2328;PMC209419P1;PMC310709P1;RH102615;RH68452;RH79027;RH80929;SHGC-112228;SHGC-32733;SHGC-56809;SHGC-74936;SHGC-74948;SHGC-74954 CD295;DKFZp686B1731;LEP-R;LEPRD;OB-R;OBR LEP-R;OB receptor;OB-R;OTTHUMP00000010692;OTTHUMP00000010693;OTTHUMP00000010694;OTTHUMP00000010695;huB219;leptin receptor 2289443;2316884 BW413_H;GLUCO303_H APPROVED protein-coding ENSG00000116678 6554 03001 601007;614963 REVIEWED 1602075 LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008] 15 15 15 q21.2 29123636 29157376 - 50017514 50051250 - 52230222 52263958 - 6480464 15923622;16630820;17081983;16964243;15791002;15632063;15489334;15302935;14702039;12477932;20196086;18469135;16307923;20541477;22863883;22939629;19345177;21252943;18029348;19136632;20178742;21726809;19471022;20305087;21139048;21890473;21906983;17620599;22451921;22532828;22505724 123169 Q8WVC0 ABBA01039074;ABBA01039075;ABBA01039076;AC090971;AK055762;AK297972;AMYH01006647;AY302186;BC018147;CH471082;NM_138792 AAH18147;AAP68819;BAB71006;BAG60282;EAW77432;EAW77433;NP_620147;Q8WVC0 Hs.567662 2116889;2153847 RH47199;RH67897 RDL OTTHUMP00000162667;RNA polymerase-associated protein LEO1;replicative senescence down-regulated leo1-like protein;replicative senescence downregulated leo1-like;senescence downregulated leo1-like APPROVED protein-coding ENSG00000166477 30401 11231 610507 PROVISIONAL 69123 LEP leptin This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008] 7 7 q31.3 127668567 127684917 + 127881331 127897682 + 1625125;1331525;1580863;1357910;1357909;1643130;2311130;2311134;2311137;2311132;2311124;2311125;2311127;2311131;2311126;2311140;5128777;5128781;5128870;5128772;5128788;5128629;5128846;5128513;5128624;5128771;5128780;5128850;5128676;5128815;5128551;5128697;5128844;5128589;5128875;5128817;5128818;5128549;5128819;5128823;5128507;5128773;5128517;5128869;5128871;5128778;5128597;5128713;5128718;5128579;5128547;6480464;6484113;6909133;6907045;6907074;6907119;7240710 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3952 A4D0Y8;P41159 AACC02000001;ABBA01057678;AC018635;AC018662;AF008123;AK313553;AMYH01017915;AY996373;BC060830;BC069323;BC069452;BC069527;BU752306;CH236947;CH471070;D49487;D63519;D63710;DA762132;DQ054472;NG_007450;NM_000230;U18915;U43415;U43653 AAA60470;AAB63507;AAC31660;AAC50400;AAH60830;AAH69323;AAH69452;AAH69527;AAX81413;AAY46797;ADQ32891;BAA08448;BAA09787;BAA09839;BAG36329;EAL24315;EAW83640;NP_000221;P41159 Hs.194236 1666918;2132298;2132300;5037552 D8S2279;OBS;RH70631;STS-U43653 FLJ94114;LEPD;OB;OBS OTTHUMP00000212285;leptin;leptin (murine obesity homolog);leptin (obesity homolog, mouse);obese protein;obese, mouse, homolog of;obesity factor 1643260;1643439;1643497;1643500;1643511;2289166;2289223 BW101_H;BW191_H;BW256_H;BW257_H;BW258_H;SLEP5_H;SLEP9_H APPROVED protein-coding ENSG00000174697 6553 01249 164160;614962 REVIEWED 1602868 LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011] 1 1 p34.1 42984633 43005270 - 43212006 43232755 - 6480464;7240710 17277775;16396496;16303743;15489334;15044469;14702039;12477932;10455179;10951563;19088120;18996919;18566967;21145461;22281939;22615817;19615732;19846465;19862557;20000738;20946018;22863883;21150319;20360068;21942715;21139048;21890473;21667357;22268729 64175 E2QRI1;H7C0D1;H7C2W6;Q9HC87 ABBA01050974;AC098484;AF097431;AF097432;AK025841;AK027648;AK027680;AK027697;AK075418;AK297980;AK300210;AMYH01000553;AMYH01000554;BC004160;BC015309;BC068461;BC091513;BC108311;BC143961;BC143962;BE675748;BT007039;CH471059;CR749690;CS051227;DC404420;NG_008123;NM_001146289;NM_001243246;NM_022356;R67284 AAG31018;AAG31019;AAH15309;AAI08312;AAP35688;BAB15256;BAB55264;BAB55291;BAB55305;BAC11608;BAG60290;BAG61980;CAH18474;CAI72109;EAX07142;EAX07143;EAX07144;EAX07145;NP_001139761;NP_001230175;NP_071751;Q32P28 Hs.720014 1661397;1732888;1773511;1781376;2108807;2164406;5020740;5024413;5037552;5094854 D1S1307;D1S3562;D8S2279;L17809;L17877;LEPRE1;LEPRE1__6385.2;SHGC-106195;SHGC-2670;SHGC-74679 GROS1;MGC117314;OI8;P3H1 OTTHUMP00000008735;OTTHUMP00000008736;growth suppressor 1;leprecan;leucine- and proline-enriched proteoglycan 1;prolyl 3-hydroxylase 1 APPROVED protein-coding ENSG00000117385 19316 11227 610339;610915 REVIEWED 2293112 LETM1P1 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1 15 15 15 q22.31 43989202 43991304 + 64887798 64890026 + 67100905 67103007 + 11549311 390597 ABBA01038807;AC110048;AMYH01006727;NG_007651 pseudo 14649 INFERRED 1353937 LEPROT leptin receptor overlapping transcript LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010] 1 1 1 p31.3 64176916 64192274 + 65658907 65670852 + 65886131 65901690 + 737633;1580863;6480464 12477932 9207021;16303743;15489334;19322201;16712791;18042720;19913121;20624279;20628086;14702039;19907080;20416077;8889548 54741 O15243 ABBA01074543;AC119800;AK023598;AK026175;AK074841;AK094801;AK130096;AK309370;AMYH01000685;AMYH01000686;BC011027;BC056250;BC140007;BI715133;BU677319;BX360952;CA434795;CB140261;CH471059;CQ783702;CQ860091;CQ878351;CR541647;CR541737;HH768651;NG_015831;NM_001198681;NM_001198683;NM_017526;Y12670 AAH11027;AAH56250;ACE86923;ACE87610;BAG52014;CAA73211;CAF86819;CAG46448;CAG46537;CAH25980;CAH59519;CBX85065;EAX06527;EAX06531;NP_001185610;NP_001185612;NP_059996;O15243 Hs.23581 1667902;1672969;1680799;1698160;1725781;1767893;1797934;1853853;1853855;2122315;2159694;5022200;5037552 A005R18;D8S2279;G20438;G62073;L18426;OBRGRP_2328;RH102615;RH68452;RH79027;RH80929;SHGC-32733;SHGC-74936;SHGC-74954 FLJ37482;FLJ90360;LEPR;OB-RGRP;OBRGRP;VPS55 DnaJ (Hsp40) homolog, subfamily C, member 6;OB-R gene-related protein;OTTHUMP00000010632;leptin receptor gene related protein;leptin receptor gene-related protein;leptin receptor overlapping transcript protein APPROVED protein-coding ENSG00000213625 29477 13987 613461 VALIDATED 2306324 LETM1P3 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3 8 8 8 q22.2 96893919 96896507 + 100708158 100710748 + 100708160 100710748 + 100151646 ABBA01037558;AC018442;AMYH01018923;NG_007658 pseudo 33986 INFERRED 2293160 LETM1P2 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2 19 19 q13.43 55599297 55603108 + 58555808 58559619 + 100131934 ABBA01020786;AC008751;AMYH01010031;NG_007659 1709198 SHGC-85778 pseudo 33985 INFERRED 1313881 LEPREL2 leprecan-like 2 The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013] 12 12 12 p13 8554854 8566302 + 6807833 6819279 + 6937572 6949018 + 1580863;6480464 19204726;15489334;15044469;14702039;12477932;9074930;8723724;19773279;19436308;22437554;21139048 10536 G3V1P9;G8JLI6;Q8IVL6 AB209320;ABBA01017661;ABBA01017662;AJ430349;AK025976;AK096771;AK126766;AK297917;AMYH01004209;BC017217;BC067251;BC080630;BQ009002;CH471116;NG_033740;NM_014262;U47924;U47926 AAB51312;AAC50464;AAH17217;AAH67251;AAH80630;AAI56267;AAI57129;BAD92557;BAG60235;CAD23037;EAW88731;EAW88732;EAW88733;EAW88734;NP_055077;Q8IVL6 Hs.631655 2125009;2125773;2144935;2152467;2219102;2219898 GRCA__6662;LEPREL2__6387;SHGC-12737;STS-U47924;STS-U47926;WI-21968 GRCB;HSU47926;P3H3 B protein;OTTHUMP00000238901;gene rich cluster, B;leprecan-like 2 protein;leprecan-like protein 2;prolyl 3-hydroxylase 3;protein B APPROVED protein-coding ENSG00000110811 19318 10039 610342 REVIEWED 732924 LEPREL4 leprecan-like 4 This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 36609515 36619798 - 37211731 37221977 - 39958205 39968451 - 6480464 8862517;16396496;15489334;14702039;12477932;10952778;8125298;16341674;20618440;23144993;15717329;21693764;21963094;22268729 10609 H0YED7;K7EJ03;K7ERA3;Q92791 ABBA01006450;ABBA01006451;AC091172;AC109319;AJ250583;AK056016;AK056085;AK222945;AK301301;AMYH01008387;BC001047;BC007942;BC011701;BM834302;CH471152;NM_006455;U47621 AAC51792;AAH01047;AAH07942;AAH11701;ABM84524;ACE86453;ACE87129;BAD96665;BAG62857;CAC16786;EAW60766;NP_006446;Q92791 Hs.446459 2108901;5016781;5020881;5109281 D1S1425;L17709;SC65_9155;SHGC-67307 NO55;NOL55;SC65 OTTHUMP00000164758;leprecan-like protein 4;nucleolar autoantigen (55kD);nucleolar autoantigen No55;nucleolar autoantigen, 55kDa;synaptonemal complex protein SC65 APPROVED protein-coding ENSG00000141696 16946 10126 VALIDATED 1312081 LEPREL1 leprecan-like 1 This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 3 3 3 q28 188102461 188268906 - 191157316 191321412 - 189674517 189840226 - 1580863;6480464 19436308;18519826;18487197;16344560;15489334;15063763;15044469;14702039;12477932;10449603;8889548;20379614;21885030;21757687;21963094 55214 C9J313;C9JSL4;D3DNV8;Q8IVL5 ABBA01058331;ABBA01058332;ABBA01058333;ABBA01058334;ABBA01058335;ABBA01058336;AC016966;AC063939;AC099660;AJ430351;AK001580;AK056447;AK125134;AMYH01013755;BC005029;BU621129;BU737886;CH471052;DA720646;DA879789;NG_031929;NM_001134418;NM_018192 AAH05029;ADZ15758;BAA91769;BAG51712;BAG54151;CAD23039;EAW78109;EAW78110;EAW78111;NP_001127890;NP_060662;Q8IVL5 Hs.374191 1334702;1680335;1681995;1707772;1855302;2147548 D3S1661;D3S2379;RH65174;RH93767;SHGC-82105;STS-N21495 FLJ10718;MCVD;MLAT4;P3H2 OTTHUMP00000209728;OTTHUMP00000209729;leprecan-like protein 1;myxoid liposarcoma associated protein 4;myxoid liposarcoma-associated protein 4;prolyl 3-hydroxylase 2;prolyl 3-hydroxylase 3 APPROVED protein-coding ENSG00000090530 19317 17270 610341;614292 REVIEWED 2289877 LEUTX leucine twenty homeobox 19 19 19 q13.2 37068806 37078345 + 44959075 44968426 + 40267234 40276775 + 17963489;11181995;20379614 342900 A8MZ59 ABBA01040734;AC005393;AMYH01009794;CH471126;CR746510;NM_001143832 A8MZ59;EAW56915;NP_001137304 Hs.451638 arginine-fifty homeobox-like pseudogene;hCG1657112;leucine-twenty homeobox;putative leucine-twenty homeobox protein-coding ENSG00000213921 31953 PROVISIONAL 1316198 LEPROTL1 leptin receptor overlapping transcript-like 1 8 8 8 p21 28912217 28954626 + 30072487 30085122 + 29952922 29995222 + 1580863;6480464 16344560;16303743;16189514;15489334;12975309;12477932;11342119;11042152;19876004;19907080;20734064;19322201 23484 C9JVM4;E5RHU8;E5RIL0;E5RIQ0;E5RJS9;H0YBC1;O95214;Q6FHL7 ABBA01023671;ABBA01023672;AC026979;AC044849;AF063605;AF161461;AK075363;AMYH01018617;AY277595;AY358674;BC000642;CH471080;CQ860103;CQ878348;CR541735;CR541760;CS051155;DA258969;HH768647;NM_001128208;NM_015344 AAC98697;AAF29076;AAH00642;AAQ18034;AAQ89037;ABM82823;ABM86009;BAG52122;CAG46535;CAG46560;CAH25986;CAH59518;CAI72073;CBX85063;EAW63468;EAW63469;EAW63470;NP_001121680;NP_056159;O95214 Hs.146585 1656481;1668100;1672448;1672450;1709546;1739363;1770401;2109465;2122551;2145521;2173260;2173262;2178670 A006J29;D8S1575E;D8S1609;D8S1922;D8S2128;G20874;HUM0S15F11;LEPROTL1_9353;RH47165;SGC32717;SHGC-81858;STS-AA029270;WI-20351 HSPC112;Vps55;my047 OTTHUMP00000225045;OTTHUMP00000225046;OTTHUMP00000225061;OTTHUMP00000225062;OTTHUMP00000225063;leptin receptor overlapping transcript-like 1 protein-coding ENSG00000104660 6555 09551 607338 VALIDATED 1352340 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009] 4 4 p16.3 1784558 1827772 - 1813206 1857974 - 1580863;6480464 12477932;10486213;18628306;19318571;19168126;17925330;17606466;15489334;15138253;14706454;12665801;18029348;19797662;20877624;20824095;22641639;22939629;20186120;21613221;21890473;21815251;21903422 3954 O95202 ABBA01029525;ABBA01029526;ABBA01029527;AC105448;AF061025;AK293572;AK310563;AL133650;AMYH01013872;BC014500;BC021208;CH471131;NG_013063;NM_012318 AAD13138;AAH14500;AAH21208;ABM84532;BAG57043;CAB63769;EAW82560;EAW82561;NP_036450;O95202 Hs.120165 1666555;5109281;5115041 D1S1425;RH41928;SHGC-24744 LETM1 and EF-hand domain-containing protein 1, mitochondrial;Mdm38 homolog;OTTHUMP00000149960;leucine zipper-EF-hand-containing transmembrane protein 1 APPROVED protein-coding ENSG00000168924 6556 05101 604407 REVIEWED 1322565 LETM2 leucine zipper-EF-hand containing transmembrane protein 2 8 8 8 p11.23 37197089 37219038 + 38363177 38385218 + 38243959 38266062 + 6480464 12477932;11549311;8889548;21832049 137994 A8K1M9;E5RJN4;E5RK40;E9PIC7;E9PMA4;E9PN52;H0YCZ8;Q2VYF4 ABBA01023533;ABBA01023534;ABBA01023535;ABBA01023536;AC087362;AC087623;AK058138;AK289944;AK302317;AK302474;AL832241;AMYH01018653;AY173945;BC024250;BC029541;BC069830;CB242043;CH471080;DC398640;NM_001199659;NM_001199660;NM_144652 AAH29541;AAO49715;BAB71680;BAF82633;BAG63655;BAH13720;EAW63317;EAW63318;NP_001186588;NP_001186589;NP_653253;Q2VYF4 Hs.696457;Hs.734005 1729570;2116658 D8S135;STS-Z40977 FLJ25409 LETM1 and EF-hand domain-containing protein 2;LETM1 domain-containing protein LETM2, mitochondrial;OTTHUMP00000228314;OTTHUMP00000228348;OTTHUMP00000228407;OTTHUMP00000228416;OTTHUMP00000228417;leucine zipper-EF-hand containing transmembrane protein 1-like protein;leucine zipper-EF-hand-containing transmembrane protein 1-like protein-coding ENSG00000165046 14648 08060 VALIDATED 5485768 LGALS16 lectin, galactoside-binding, soluble, 16 19 19 q13.2 44838421 44843127 + 40146558 40151287 + 19497882 148003 A8MUM7;M0R108 ABBA01040734;AC005515;AC093051;AMYH01009794;FJ613352;NM_001190441 A8MUM7;ACR09652;NP_001177370 Hs.667238 1655118 D19S1123 beta-galactoside-binding lectin;galectin-16;hypothetical protein LOC148003 protein-coding ENSG00000249861 40039 VALIDATED 1350319 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 p22.2 2526005 2535337 + 2552163 2568811 + 1302739;1580863;2302204;6480464;6907045;7240710 9187150;17761886 10341080;16385447;16341674;14702039;12477932;12110169;9878264;11346656;12486116;10935626;19020755;19061953;21832049;22318606;22624713;20301771 3955 Q8NES3 AACC02000053;ABBA01039376;ABBA01039377;ABBA01039378;AC092488;AF193612;AK096284;AMYH01016972;AMYH01016973;AMYH01016974;AY124582;BC014851;BM854210;CH236953;CH471144;NG_008109;NM_001040167;NM_001040168;NM_001166355;NM_002304;U94354 AAC51360;AAF07187;AAH14851;AAM93542;BAG53248;EAW87250;EAW87251;EAW87252;EAW87253;EAW87254;NP_001035257;NP_001035258;NP_001159827;NP_002295;Q8NES3 Hs.159142 1739093;1739583;1769292;2191577 D7S2257;D7S2382E;MARC_26643-26644:1036437678:1;WI-15937 SCDO3 OTTHUMP00000201070;OTTHUMP00000201071;OTTHUMP00000201072;OTTHUMP00000201073;beta-1,3-N-acetylglucosaminyltransferase lunatic fringe;lunatic fringe homolog (drosophila) APPROVED protein-coding ENSG00000106003 6560 602576;609813 REVIEWED 1344708 LETMD1 LETM1 domain containing 1 This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011] 12 12 q13.12 49728351 49740474 + 51442082 51454207 + 2314918;2314917;6480464 12879013 16762630;19435525;19208263;18045496;16949218;16278390;14702039;14691448;12477932;12061725;8125298;20423485;16934181;17207965;20877624;20591135;16344560;21832049;20196787;21138632;22511601 25875 F8VP71;F8VPY5;F8VQE7;F8VR33;F8VR35;F8VS60;F8VTR1;F8VUZ8;F8VVQ3;F8VXQ4;F8VZA2;F8W0R0;F8W1U1;F8W1Z2;F8W6J0;F8WCD9;H0YH93;H0YHF4;H0YIV5;Q96PK7 ABBA01031594;ABBA01031595;AC087884;AF195651;AF315598;AF329277;AI313513;AK000639;AK057866;AK123080;AK126372;AK127540;AK225836;AK301898;AK301955;AK304707;AK315119;AL050286;AMYH01004459;AY259835;AY259836;BC000395;BC019274;BC064943;BM549678;BM998643;BX343550;CH471111;DA682074;DC357852;NG_029858;NM_001243689;NM_015416;NR_045017;NR_045018;NR_045019;NR_045020 AAH00395;AAH19274;AAH64943;AAK34885;AAL26878;AAL56993;AAP85624;AAP85625;ADQ32592;BAG37574;BAG54519;BAH13580;BAH13594;BAH14243;CAB43387;EAW58166;EAW58167;EAW58168;EAW58169;EAW58170;EAW58171;EAW58172;NP_001230618;NP_056231;Q6P1Q0 Hs.655272 2129301;2162013;5016478;5022322;5022578;5022588 D11S2560;D12S1202E;D1S1423;D5S1597E;GDB:434012;RH44490 1110019O13Rik;DKFZp586A011;HCCR-1;HCCR-2;HCCR1;HCRR-2 LETM1 domain-containing protein 1;OTTHUMP00000241484;OTTHUMP00000241486;OTTHUMP00000241487;OTTHUMP00000241488;OTTHUMP00000241490;OTTHUMP00000241491;OTTHUMP00000241494;cervical cancer 1 proto-oncogene protein p40;cervical cancer 1 protooncogene;cervical cancer proto-oncogene 2 protein;regulator of TP53 APPROVED protein-coding ENSG00000050426 24241 09978 REVIEWED 1315798 LGALS12 lectin, galactoside-binding, soluble, 12 This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] 11 11 11 q13 60597611 60608333 + 63030132 63040815 + 63273524 63284246 + 1580863;6480464 11435439;15489334;15131127;12477932;11283015;21890473 85329 G5E970;Q96DT0 ABBA01003254;AF222694;AF222695;AF244974;AF244975;AF244976;AF244977;AF310686;AF310687;AK313851;AMYH01003694;AP001591;BC028222;CH471076;NM_001142535;NM_001142536;NM_001142537;NM_001142538;NM_033101 AAF34676;AAF34677;AAG40863;AAG40864;AAH28222;AAK77328;AAK77329;AAK77330;AAK77331;ADZ15855;BAG36579;EAW74151;EAW74152;EAW74153;EAW74154;EAW74155;NP_001136007;NP_001136008;NP_001136009;NP_001136010;NP_149092;Q96DT0 Hs.502774 GAL12;GALECTIN-12;GRIP1 OTTHUMP00000236918;OTTHUMP00000236919;OTTHUMP00000237063;OTTHUMP00000237064;OTTHUMP00000237065;galectin 12;galectin-12;galectin-related inhibitor of proliferation APPROVED protein-coding ENSG00000133317 15788 16196 606096 REVIEWED 1344564 LGALS13 lectin, galactoside-binding, soluble, 13 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008] 19 19 q13.1 44785009 44789954 + 40093169 40098114 + 1580863;6480464 10527825;18791734;18539259;18186153;17618748;15489334;15193867;15009185;12477932;12459492;11742106;10571079;10395961;6856484;21257080;21257081;19087972;19497882;19777530;19813218;19818512;19844942;17207965;20509161;21652068;21799738;21596368;22015022 29124 M0R015;Q9UHV8 ABBA01040734;AC005205;AF117383;AM259729;AMYH01009794;AY055826;BC066304;BC069312;CH471126;FJ613336;FJ613337;FJ613338;HC007070;HC044563;NM_013268 AAF22001;AAH66304;AAH69312;AAL09162;ACR09638;ACR09639;ACR09640;ADQ32924;CAJ97436;CBH19340;CBH30611;EAW56910;NP_037400;Q9UHV8 Hs.23671 2119333 STS-R31571 GAL13;PLAC8;PP13 beta-galactoside-binding lectin;gal-13;galactoside-binding soluble lectin 13;galectin 13;galectin-13;lectin, galactoside-binding, soluble, 13 (galectin 13);placental protein 13;placental tissue protein 13 APPROVED protein-coding ENSG00000105198 15449 16375 608717 REVIEWED 2303655 LGALS17A Charcot-Leyden crystal protein pseudogene 19 19 19 q13.2 36971581 36978580 + 44861854 44866195 + 40170014 40177013 + 19497882;12477932;23251661;23894747 400696 Q6ZW74 ABBA01040734;AC005515;AK123499;AMYH01009794;BC118595;BC122559;BC128606;FJ613353;FJ613354;NR_034156 AAI18596;AAI22560;AAI28607;ACR09653;ACR09654;BAC85631 Hs.456377 eosinophil lysophospholipase-like;hypothetical protein LOC400696 APPROVED pseudo ENSG00000226025 14221 VALIDATED 1343899 LGALS5 lectin, galactoside-binding, soluble, 5 (galectin 5) 729015 7890611 3961 6566 1346485 LGALS6 lectin, galactoside-binding, soluble, 6 (galectin 6) 3962 6567 1347735 LGALS1 lectin, galactoside-binding, soluble, 1 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008] 22 22 q13.1 36401559 36405755 + 38071613 38075809 + 1580863;2316551;2316526;2316550;6480464 18225978;19079321;16733672 17353931;12761501;16130169;11256614;19550395;19454697;19412433;19363525;19287997;19287070;19171142;19155496;19148478;19128029;19125585;19116313;19103599;19032754;19011096;18991278;18838383;18824694;18802059;18796645;18791848;18691335;18671640;18662664;18633135;18630998;18581052;18570123;18519761;18431251;18315601;18292532;18258591;18223683;18007053;17984174;17880528;17649808;17616672;17603562;17537433;17535296;17523619;17438085;17390012;17304502;17269744;17182582;17177840;17110462;17043243;16940423;16818733;16785517;16751364;16636291;16530434;16388708;16381901;16247730;16051185;16033063;15972675;15929990;15910247;15862866;15778371;15690107;15663199;15556941;15556936;15489336;15489334;15461802;15297883;15050916;14769876;14693917;14617626;14612929;14550305;14507657;12853445;12823983;12810474;12665801;12615972;12527107;12477932;12271131;12125737;12008046;11937561;11850528;11846886;11709720;11522829;11146440;11076863;10950114;10764829;10642604;10591208;10490978;10425546;10369126;9683529;9572443;9264263;8872948;8449510;8432540;8063692;7869048;7795414;7750127;7501023;3611046;3065332;3020551;2910856;2719964;2719646;2383549;1996404;1988031;1713454;1602151;7821789;22456341;23124203;22716213;21385934;19913121;20053628;20157731;20399482;20525878;20628086;20728947;17884770;19064001;19492862;19506091;19520156;19561030;19635795;19688976;19730683;19860718;19898636;19900702;20006954;20200618;20644118;20332322;18947333;20549082;20657665;20363255;21122983;19886821;20570633;20592339;20596638;20828557;20177845;21292557;21191065;20873803;21378323;19225046;21779348;22692729;23027923;22583806;22696230;22777171;22785208;21147166;21372130;22155450;22285770;22447203;22884463;23106098;21397408;21514365;21391228;21505194;20360068;21747316;21807362;22432916;21113146;21689853;21632118;21880749;21724180;21880716;18624398;21998324;21780106;22383798;22028908;21139048;21614093;21890473;21906983;22609846;22942212;23002109;23510298;23389289;22167721;22174828;22022970;21986812;19471022;22081313;22267483;22291012;22156919;22863883;22939954;22546645;22373585;22386573;22939629;23121677;23142379;22689223;19738201;21150319;21963094;22353504;22623428;22936677;23000965;23223580;23444403;18028978;20816214;22271227;22524424;22844466;23022198;23681112;22561438;23402259 3956 F8WCQ5;F8WEI7;P09382 AB097036;ABBA01055481;AK312161;AL832117;AMYH01012755;BC001693;BC020675;BT006775;CH471095;CR456511;D28452;EU363770;GN043360;HI179170;J04456;M57678;NM_002305;S44881;X14829;X15256;Z83844 AAA36170;AAB00777;AAB19412;AAH01693;AAH20675;AAP35421;ABM83189;ABM86391;ACA58297;BAA05818;BAC77389;BAG35095;CAA32938;CAA33328;CAG30397;CAK54541;CAK54840;CAL37536;CAX48935;CBX53893;EAW60178;NP_002296;P09382 Hs.445351 1773886;5126643 RH48064;WI-18867 DKFZp686E23103;GAL1;GBP 14 kDa laminin-binding protein;14 kDa lectin;HBL;HLBP14;HPL;OTTHUMP00000198176;S-Lac lectin 1;beta-galactoside-binding lectin L-14-I;beta-galactoside-binding protein 14kDa;gal-1;galaptin;galectin 1;galectin-1;lactose-binding lectin 1;putative MAPK-activating protein PM12 APPROVED protein-coding ENSG00000100097 6561 01040 150570 REVIEWED 1602105 LGALS14 lectin, galactoside-binding, soluble, 14 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36996513 37001655 + 44886786 44891928 + 40194946 40200088 + 6480464 16831268;19497882;19023099;17975119;15489334;12477932;11997112;17207965 56891 B2R530;M0R163;Q8TCE9 ABBA01040734;AC006133;AF123762;AF267852;AF367430;AF367431;AF367432;AI167958;AK312040;AMYH01009794;BC022257;BG434228;BQ007347;CH471126;FJ613341;FJ613342;HC044597;NM_020129;NM_203471 AAF78953;AAH22257;AAK56284;AAK56285;AAK56286;AAP97241;ACR09643;ACR09644;ADQ32203;BAG34977;CBH30628;EAW56912;EAW56913;NP_064514;NP_982297;Q8TCE9 Hs.24236 1712198;2171711 G54150;SHGC-34102 CLC2;MGC22235;PPL13 Charcot-Leyden crystal protein 2;gal-14;galectin-14;placental protein 13-like;placental protein 13-like protein APPROVED protein-coding ENSG00000006659 30054 06268 607260 REVIEWED 735390 LGALS2 lectin, galactoside-binding, soluble, 2 The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008] 22 22 q13.1 36296199 36305970 - 37966253 37976024 - 1581852;1581853;1580863;6480464;7240710 17040205 18029348;19330599;19182073;19013708;18506375;18230628;17999373;17517687;17497114;17493152;17098239;16940423;16468038;15990958;15489334;15461802;15356130;15129282;12477932;10591208;8449510;8411163;8262940;3020551;1988031;1375225;19913121;20628086;19380789;19578796;19726041;20379614;20500087;20098747;21832049;21514365;21724180;22310064;22015694;22041458;21831908 3957 B0QYC9;P05162 ABBA01055473;AL022315;AMYH01012753;BC029063;BC059782;CD701729;CH471095;CR456512;CR541972;CR542000;M14079;M87842;M87860;NG_012096;NM_006498 AAA36171;AAA59512;AAA59513;AAH29063;AAH59782;CAG30398;CAG46770;CAG46797;CAK54542;CAK54841;EAW60167;NP_006489;P05162 Hs.531776 1689173;1744385;1772062 GDB:452630;RH71441;RH93754 HL14;MGC75071 OTTHUMP00000197882;S-Lac lectin 2;beta-galactoside-binding lectin L-14-II;gal-2;galectin 2;galectin-2;lactose-binding lectin 2;lectin, galactoside-binding, soluble, 2 (galectin 2) APPROVED protein-coding ENSG00000100079 6562 08859 150571;608446 REVIEWED 736304 LGALS3 lectin, galactoside-binding, soluble, 3 This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 14 14 q22.3 54665625 54681901 + 55595935 55612148 + 1580863;6480464;6484113 21516492;21641051;21941373;22071132;9162064;14961764;19479862;19332433;19309568;19291534;19291362;19286570;19207946;19199318;19153476;19137262;19136890;19124005;19074869;19074165;19053747;19020999;19020721;18988806;18951731;18942707;18836743;18757439;18676377;18670355;18657294;18630998;18594826;18584353;18581271;18556657;18542048;18495537;18460740;18455493;18438928;18418527;18415710;18395901;18384511;18319555;18302943;18292532;18288410;18263896;18096829;18089806;18045960;18008332;17949550;17906980;17889671;17888402;17728499;17597183;17592963;17544840;17534895;17515507;17481580;17420249;17385862;17221114;17189612;17090543;17082191;17056590;16996782;16818789;16804396;16738336;16722927;16702978;16651632;16600178;16549783;16530434;16518858;16424226;16369807;16365873;16289162;16285957;16244583;16184379;16112008;16045783;15887854;15867344;15843888;10745073;10704522;10536372;10089212;9582341;9520085;9501082;9447709;9439577;9271684;8889548;8813152;8581828;8449510;8390986;8253806;11160123;10961987;8253805;8063692;8061935;7947821;7729540;7682704;7600101;7573347;2402511;2261464;2022338;2009535;1988031;1917996;18695044;11146440;15645276;15643504;15604089;15579437;15561101;15555581;15501810;15489334;15386597;15362030;15326483;15279903;15205467;15181153;14611647;14558920;12963125;12878156;12823983;12767519;12714580;12696064;12673672;12642626;12615069;12477932;12439750;12438311;12375039;12366402;12213909;12112826;11856751;11839755;11724777;11532191;11522829;21030859;21494181;19452726;20622331;22783570;21555510;19913121;20040515;20628086;20713592;21094672;21167898;21234707;21331750;18024302;18997617;19016746;19064001;19271150;19278794;19556244;19603745;19633306;19690136;19699526;19706535;19723119;19747906;19755493;19798881;19818774;19818782;19843071;19940114;20014549;20056110;20080851;20144269;20384870;20490454;20198455;20363921;20372914;20450430;20156641;20695889;20401558;20130888;20800603;20807768;19830550;19781269;20600357;20698585;20565834;19799084;20204403;20682656;20729207;20451577;20881856;19453521;21327452;21475983;21070836;21350102;20711594;21378323;20885286;19225046;21698183;20855213;23065155;23117656;23259327;22827322;21189092;21258405;21397408;21958686;22024187;21446041;22674388;21724837;21396839;23352394;18662664;21832049;22939629;22990118;21715322;21821001;21715185;21750908;17868400;22167721;21153652;21987825;21724180;21910036;22998064;23479624;20635166;22039439;22111949;22236000;21792939;21966428;22004231;21553103;22465244;22549776;22267483;21691201;22152245;22232548;22553813;22367363;22535608;23152863;23395934;22546645;22729037;22997967;22513979;23300668;23541576;23255567;17110338;22761016;23118221;23037954;23056639;22886030;23202783;23316284;23505301;23449638;23487460;22497866;22916968;23117840;22683626;22900040;22155450;22240167;22986745;22673112;22846995 3958 G3V3R6;G3V407;P17931 AB006780;AB086821;AB209391;ABBA01018201;AF031425;AF266280;AK314929;AL139316;AMYH01005744;BC001120;BC053667;BC068068;BC128253;BC128403;BG332134;BQ645629;BU681070;BX161455;BX641090;CD518618;CH471061;CR456897;CR542097;HI179168;M35368;M36682;M57710;M64303;NG_017089;NM_001177388;NM_002306;NR_003225;S59012;U10300 AAA35607;AAA36163;AAA88086;AAB26229;AAB86584;AAG44701;AAG44702;AAH01120;AAH53667;AAH68068;ABM83520;ABW03507;BAA22164;BAC45249;BAD92628;BAG37435;CAD61918;CAE46042;CAG33178;CAG46894;CBX53892;EAW80658;EAW80660;NP_001170859;NP_002297;P17931 Hs.531081 1770960;1777722;2136719;2137100;2169531;5127434 D14S878;G35459;RH69146;RH69221;RH70554;WI-15390 CBP35;GAL3;GALBP;GALIG;L31;LGALS2;MAC2 35 kDa lectin;IgE-binding protein;MAC-2 antigen;OTTHUMP00000244927;OTTHUMP00000244928;carbohydrate-binding protein 35;galactose-specific lectin 3;galectin-3;laminin-binding protein;lectin L-29;lectin, galactose binding, soluble 3 APPROVED protein-coding ENSG00000131981 6563 01090;17026 153619 REVIEWED 1351726 LGALS4 lectin, galactoside-binding, soluble, 4 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008] 19 19 q13.2 43984155 43995422 - 39292311 39303740 - 1580863;6480464 9162064;19192249;18539029;17545668;16940423;15883199;15546874;15489334;12477932;11971864;9310382;8889549;8063692;16169070;19903339;20445255;21064109;21724180;17110338;20706999;23117840 3960 M0QZ93;M0R1B2;M0R349;P56470;Q6FHZ4 AA130458;AA583424;AB006781;ABBA01040702;AC022144;AC104534;AF014838;AK290269;AK296194;AK296604;AMYH01009787;BC003661;BC005146;BC034750;BT007032;CH471126;CR536544;NM_006149;U82953 AAB86590;AAC51763;AAH03661;AAH05146;AAH34750;AAP35679;BAA22165;BAF82958;BAG58923;BAG59217;CAG38781;EAW56819;EAW56820;NP_006140;P56470 Hs.5302 5024761;5037552 D8S2279;RH36905 GAL4;L36LBP L-36 lactose-binding protein;antigen NY-CO-27;gal-4;galectin 4;galectin-4;lactose-binding lectin 4 APPROVED protein-coding ENSG00000171747 6565 03949 602518 REVIEWED 2306147 LGALS7B lectin, galactoside-binding, soluble, 7B The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36081864 36084401 + 43971707 43974173 + 39279850 39282394 + 6480464 21145461;7534301;18315601;16788763;15489334;15342556;13679866;12477932;11706006;9760227;7729568;16169070 653499 P47929 ABBA01040699;AC022144;AMYH01009787;AW015224;AX497005;BC042911;BC061588;BC073743;CH471126;L07769;NM_001042507;U06643 AAA67899;AAA86820;AAH42911;AAH61588;AAH73743;CAD48636;EAW56818;NP_001035972;P47929 Hs.558355 5113856;5121515 RH66782;RH80063 GAL7;Gal-7;HKL-14;LGALS7;MGC75149;MGC88745;PI7 galectin 7B;galectin-7;galectin-7B;keratinocyte lectin 14;lectin galactoside-binding soluble 7;p53-induced gene 1 protein;p53-induced protein 1 APPROVED protein-coding ENSG00000178934 34447 REVIEWED 1352457 LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008] 17 17 q25 74478932 74487656 - 76967335 76976061 - 1580863;6480464 17353931;8390986;8034587;18029348;19291534;19153476;19017490;18646789;18594176;18490383;18450743;17949550;17131321;16740002;16518858;16335952;15489334;15231701;15084671;14758079;14702039;12754519;12477932;11980646;11867635;11146440;10077627;9501082;9495353;9013622;8813152;7698018;7583357;1917996;22496229;19544526;20237496;20019050;20583127;21094132;21515679;21660451;22939629;20000738;21474793;17091455;18775313;20360068;21081666;21987572;21139048;21890473;22447108;17091456;20581239;21145461;22864925;21963094;22810585;22939624;23233740;23438482;23443559;22970241;23184915;23455922;23667531;22190034;22268729;22797925 3959 K7EJD3;K7EJY8;K7EKQ5;K7ELA1;K7EM15;K7EN99;K7EP36;K7EQT9;K7ER67;K7ERZ6;K7ES75;Q08380 ABBA01002910;ABBA01199134;AC100788;AK055977;AK057776;AK293183;AK295442;AK301040;AK301444;AK307665;AMYH01008677;AMYH01008678;BC002403;BC002998;BC015761;BQ649131;CH471099;L13210;NM_005567;X79089 AAA36193;AAH02403;AAH02998;AAH15761;ABM83150;ABM86350;BAG51600;BAG56725;BAG58382;BAG62653;BAG62970;CAA55699;EAW89543;EAW89544;EAW89545;EAW89546;NP_005558;Q08380 Hs.514535 1681726;1796246 LGALS3BP_181;RH80064 90K;BTBD17B;MAC-2-BP;TANGO10B L3 antigen;MAC2BP;Mac-2-binding protein;basement membrane autoantigen p105;galectin-3-binding protein;lectin galactoside-binding soluble 3-binding protein;mac-2 BP;serum protein 90K;transport and golgi organization 10 homolog B;tumor-associated antigen 90K APPROVED protein-coding ENSG00000108679 6564 02796 600626 REVIEWED 1350412 LGALS7 lectin, galactoside-binding, soluble, 7 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008] 19 19 q13.2 43953445 43955983 - 39261608 39264157 - 1580863;6480464 19148478;19012243;18418527;16788763;15489334;15342556;13679866;12523890;12477932;21145461;21319273;22377647;11706006;10500176;9760227;9697310;9305847;8889548;7729568;7534301;19596268;19615732;19885589;20546628;20382700;17044979;20562859;21182205;21397408;16196087;21289092;21677144;22864818;19815544;22059385;22251572;22354994;23564797 3963 M0R281;P47929 ABBA01040701;AC022144;BM681659;BP225960;CH471126;CR456917;CV575179;NM_002307 CAG33198;EAW56817;NP_002298 Hs.702546 5113856;5121515 RH66782;RH80063 GAL7;LGALS7A galectin 7;galectin-7 APPROVED protein-coding ENSG00000205076 6568 09002 600615 REVIEWED 1352680 LGCR Langer-Giedion syndrome chromosome region 1684953 3966 6571 5488181 LGALS8-AS1 LGALS8 antisense RNA 1 1 q43 236686369 236687808 - 12477932 100287902 Q96CB2 ABBA01033165;AK026321;AL359921;AMYH01001858;BC007739;BC014452;CH471098;NR_034040 AAH14452;EAW70059 Hs.677376 APPROVED miscrna ENSG00000223776 40340 VALIDATED 1354427 LGALS8 lectin, galactoside-binding, soluble, 8 This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q43 234748188 234779619 + 236681514 236716281 + 729012;1580863;6480464 7852431 22173878;12851289;8692978;19268462;18849583;18539029;18456665;18024965;17580315;17481580;17339281;16368432;16344560;16189514;15753078;15489334;14758080;12881409;12569102;12477932;12234517;12223276;11839721;11675018;11494049;10980616;10852818;10697573;21145461;19009371;19395456;19407390;20044599;20800603;15342556;20858220;21288902;20876211;16751776;22973445;22990118;22240167;22285770;21757871;21139048;21862124;21890473;21906983;22267735;22022970;22246324;23000965;23386746;23398456;22913484;22683700 3964 B1ANM0;E9PJ77;E9PN19;E9PNC2;E9PPL1;E9PPM4;E9PRN3;F6V2D4;H7BXD8;Q5T3P9;Q9H585 AB209914;ABBA01033165;ABBA01033166;AF074000;AF074001;AF074002;AF193806;AF342815;AF342816;AF468213;AK098613;AK296061;AL136105;AL359921;AMYH01001858;AU117713;AY037304;BC015818;BC016486;BI758016;BP280070;BP371701;BU561073;BU630272;CH471098;DB053616;EF467046;L78132;NM_006499;NM_201543;NM_201544;NM_201545;X91790 AAB51605;AAD45402;AAD45403;AAD45404;AAF19370;AAH15818;AAH16486;AAK16735;AAK16736;AAK69827;AAL77076;ABM87017;ABQ63077;ABW03852;BAD93151;BAG58824;CAA62904;EAW70053;EAW70054;EAW70055;EAW70056;EAW70057;NP_006490;NP_963837;NP_963838;NP_963839;O00214 Hs.4082;Hs.708114;Hs.735982 1645480;1645482;1645829;1698968;1722589;1739235;1744887;1767208;1794402;1846843;1846905;1847595;1855606;1856470;2148490;2172297;2178100;2180317;2182218;2218786 A005A42;D1F299S1;D1S2293;G20229;G60376;HSCZVH012;LGALS8_4007;PMC311069P11;RH103053;RH16350;RH68829;SGC34592;SHGC-32054;SHGC-76531;SHGC-76541;SHGC-76543;SHGC-76570;SHGC-76571;WI-12386;WI-20466 Gal-8;PCTA-1;PCTA1;Po66-CBP OTTHUMP00000037853;OTTHUMP00000037854;OTTHUMP00000037855;OTTHUMP00000037957;OTTHUMP00000037958;OTTHUMP00000037959;OTTHUMP00000037960;OTTHUMP00000037961;OTTHUMP00000038817;OTTHUMP00000231517;OTTHUMP00000231546;Po66 carbohydrate binding protein;galectin 8;galectin-8;galectin-8g;po66 carbohydrate-binding protein;prostate carcinoma tumor antigen 1 2299934;2299935 PRSTS333_H;PRSTS334_H APPROVED protein-coding ENSG00000116977 6569 09356 606099 REVIEWED 2298932 LGALS9B lectin, galactoside-binding, soluble, 9B This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008] 17 17 p11.2 20293768 20311440 - 20353176 20370848 - 16344560;16341674;12477932;11997339 284194 J3QRN8;J3QSC5;Q3B8N2 ABBA01154187;AC015818;AK290263;AK296659;AMYH01008243;AMYH01008244;AMYH01008245;AMYH01008246;AMYH01008247;AMYH01008248;AMYH01008249;AMYH01008250;AMYH01008251;AMYH01008252;AMYH01008253;AMYH01008254;AMYH01008255;AMYH01008256;AMYH01008257;AMYH01008258;AMYH01008259;AMYH01008260;AMYH01008261;AMYH01008262;BC105943;BM769345;DA668702;NM_001042685 AAI05944;BAF82952;BAG59256;NP_001036150;Q3B8N2 Hs.462402;Hs.610820 2131619;5115842 G13298;ksks301 FLJ58146;FLJ75081 OTTHUMP00000161300;gal-9B;galectin-9 like;galectin-9 pseudogene;galectin-9-like protein A;galectin-9B APPROVED protein-coding ENSG00000170298 24842 VALIDATED 736794 LGALS9 lectin, galactoside-binding, soluble, 9 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. It is overexpressed in Hodgkin's disease tissue and might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its associated immunodeficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2 22982301 23000713 + 25958174 25976586 + 1580863;6480464 9045665;12761501;19100864;19005181;18977853;18485114;18401566;18264727;18005988;17907924;17596995;17449641;17446336;17167046;17156439;17069754;16286920;16116184;16012760;15837748;14758084;14702039;12714580;12646627;12477932;12421975;12223516;12115481;11823532;9642261;8125298;17353931;18258591;18050192;20574007;19335620;19776007;20206131;20484929;20209097;19538882;21263071;23038209;23121677;22505239;22938412;21670307;23339460;23408620;21187321;21426359;22027828;22438246;21717191;22323453;23144904;22371007;23242525;23161469;23128233;23180819 3965 B4DWP7;F8W9W4;J3KS82;J3KSA0;J3QKK6;J3QS92;K7EPS0;O00182;Q8WYQ7 AB003517;AB005894;AB006782;AB008492;AB040130;ABBA01015068;AC015688;AJ288083;AK126017;AK223232;AK296031;AK301624;AMYH01008275;BC034392;BC105942;BC105944;BC110340;CH471159;NM_002308;NM_009587;NR_024043;Z49107 AAI05943;AAI05945;AAI10341;BAA22166;BAA31542;BAB83623;BAB83624;BAB83625;BAD96952;BAF76327;BAF76328;BAG54277;BAG58799;BAG63109;CAA88922;CAB93851;EAW51037;EAW51038;EAW51039;EAW51040;EAW51041;EAW51042;EAW51043;EAW51044;EAW51045;NP_002299;NP_033665;O00182 Hs.81337 HUAT;LGALS9A;MGC117375;MGC125973;MGC125974 OTTHUMP00000163272;OTTHUMP00000163273;OTTHUMP00000163275;ecalectin;gal-9;galectin 9;galectin-9;lectin, galactose binding, soluble 9;tumor antigen HOM-HD-21;urate transporter/channel protein APPROVED protein-coding 6570 03528 601879 REVIEWED 1344656 LGMD1A limb-girdle muscular dystrophy 1A (autosomal dominant) 9828127 3967 6574 1353955 LGMD1D limb girdle muscular dystrophy 1D (autosomal dominant) 7240710 9973292 9186 2134104 D7S427 6576 603511 2298931 LGALS9C lectin, galactoside-binding, soluble, 9C This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008] 17 17 p11.2 18320824 18338984 + 18380099 18398259 + 6480464 16344560;16341674;12684513;12477932;11997339;11971863;17207965 654346 C9JHN9;J3KRF0;J3KSV0;J3KSY2;J3KT17;J3QKS2;J3QR96;J3QSH0;Q6DKI2 AC107983;AK315818;AL353997;AMYH01008175;BC073889;BM769737;DA426549;NM_001040078 AAH73889;ADQ32656;BAF98709;NP_001035167;Q6DKI2 Hs.462402 2131619;5115842 G13298;ksks301 MGC125972 OTTHUMP00000065433;gal-9C;galectin 9 like;galectin-9-like protein B;galectin-9C;lectin, galactoside-binding, soluble, 9 (galectin 9) pseudogene APPROVED protein-coding ENSG00000171916 33874 VALIDATED 1346654 LGMNP1 legumain pseudogene 1 13 13 13 q21.31 46432551 46434513 - 64429573 64431751 - 65531688 65533650 - 122199 ABBA01050265;AL359438;AMYH01005181;NG_001534 1650077;1665151;5018017 LGMN-1;RH78327;SHGC-169 LGMN2P APPROVED pseudo 23079 INFERRED 1606012 LGALSL lectin, galactoside-binding-like 2 2 2 p14 64527497 64534686 + 64534831 64542021 + 64681327 64688517 + 6480464 11256614;18320588;18219197;16682780;16381901;15489336;12477932;11076863;11042152;21139048;19322201;21044950 29094 B9A055;F8WF17;Q3ZCW2 ABBA01075419;AC008074;AF161508;AK025603;AK314656;AMYH01010400;BC036082;BC062691;CH471053;DR001728;NM_014181 AAF29123;AAH36082;AAH62691;BAG37215;CAL38047;EAW99942;EAW99943;NP_054900;Q3ZCW2 Hs.372208 1654052;1687151;2110461;2187396 HSPC159_9577;RH11927;RH80132;SHGC-37647 GRP;HSPC159;MGC33751;MGC71953 OTTHUMP00000159938;OTTHUMP00000202181;OTTHUMP00000202188;galectin-related protein;lectin galactoside-binding-like protein APPROVED protein-coding ENSG00000119862 25012 13708 VALIDATED 733103 LGI1 leucine-rich, glioma inactivated 1 This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq, Jul 2008] 10 10 q24 95507668 95547906 + 95517566 95557916 + 737768;1580863;6480464;7240710 12095917 9879993;19268539;19191227;18711109;18625862;18355961;17875918;17296837;16787412;16707245;16518856;15827762;15489334;15349881;15164054;15079011;15079010;15047712;15009222;12975309;12821932;12771268;12601709;12477932;12217514;12205652;11978770;11810107;7647791;16990550;21479274;20580615;20659151;16385451;17067999;19387870;19552651;19778537;19780791;19796686;20863412;20301709;21504429;21444903;22122031;22323750;22496201;22744657;23407760 9211 O95970;Q59FQ2 AB209408;ABBA01021866;AF055636;AF473548;AK289706;AK303956;AK309416;AL157396;AL358154;AMYH01002961;AY358885;BC022500;CH471066;DC326684;NG_011832;NM_005097 AAC99316;AAH22500;AAM22074;AAQ89244;ABM83297;ABM86506;BAD92645;BAF82395;BAG64882;EAW50051;EAW50052;EAW50053;NP_005088;O95970 Hs.533670 1782114;2107263;2120949;2174653 LGI1__6389;SHGC-155057;T15408;WI-16274 ADLTE;ADPAEF;ADPEAF;EPITEMPIN;EPT;ETL1;IB1099 OTTHUMP00000020121;OTTHUMP00000020122;epitempin-1;leucine-rich glioma-inactivated protein 1 APPROVED protein-coding ENSG00000108231 6572 05216 600512;604619 REVIEWED 1321270 LGI2 leucine-rich repeat LGI family, member 2 4 4 4 p15.2 25449352 25481288 - 24612488 24641413 - 25000471 25032414 - 6480464 16021519;16014869;15489334;14702039;12477932;12217514;12095917;12023020;11572484;9110174;8619474;20183877;20863412 55203 H0YA65;Q8N0V4 AB067503;ABBA01032689;AC113614;AF052098;AF467955;AJ487516;AJ487958;AK001537;AK058023;AK126093;AL833647;AMYH01014065;BC101759;BC101761;CH471069;CS083233;NM_018176 AAI01760;AAI01762;AAM49553;BAA91746;BAB67809;BAC86435;CAD31784;CAD32305;CAI96003;EAW92828;EAW92829;EAW92830;NP_060646;Q8N0V4 Hs.12488 1335336;2166690;2169110;2179032;2219900 D4S2724;D4S2948;LGI2__6390;RH18349;SHGC-59783 FLJ10675;KIAA1916;LGIL2;MGC126808;MGC126810 LGI1-like protein 2;OTTHUMP00000123374;OTTHUMP00000218075;leucine-rich glioma-inactivated protein 2;leucine-rich repeat LGI family member 2;leucine-rich, glioma inactivated 2 protein-coding ENSG00000153012 18710 06431 608301 VALIDATED 1344124 LGI4 leucine-rich repeat LGI family, member 4 19 19 19 q13.12 32328853 32339614 - 40307257 40317944 - 35615417 35626178 - 6480464 12477932;14505228;12975309;12217514;12095917;12023020;8889548;19815358;20220021;22318606 163175 A5D6Y5;A8MVC2;K7ENQ0;Q8N135 ABBA01018732;ABBA01018733;AC020907;AF467954;AJ487519;AJ487959;AL832968;AMYH01009723;AY358121;BC029943;BC087848;BC136694;BC136697;BC140008;BU740724;NM_139284 AAH87848;AAI36695;AAI36698;AAI40009;AAM49552;AAQ88488;CAD31787;CAD32306;CAH56336;NP_644813;Q8N135 Hs.65256 1665198;1770493;1770495;2133672;2156860;2185969 A005M08;G20326;RH11600;RH79072;SGC33373;STS-N52877 LGIL3 LGI1-like protein 3;OTTHUMP00000042035;OTTHUMP00000042036;leucine-rich glioma-inactivated gene 4;leucine-rich glioma-inactivated protein 4;leucine-rich repeat LGI family member 4 protein-coding ENSG00000153902 18712 06433 608303 VALIDATED 1605061 LGR4 leucine-rich repeat containing G protein-coupled receptor 4 G protein-coupled receptors (GPCRs) play key roles in a variety of physiologic functions. Members of the leucine-rich GPCR (LGR) family, such as GPR48, have multiple N-terminal leucine-rich repeats (LRRs) and a 7-transmembrane domain (Weng et al., 2008 [PubMed 18424556]).[supplied by OMIM, Aug 2008] 11 11 11 p14-p13 27532862 27640072 - 27344084 27450910 - 27387508 27494334 - 6480464;7240710 18424556;17178856;12477932;11401528;10894923;9849958;19301269;19550120;22815884;23589304;21693646;21139048;22575959 55366 E9PK51;Q59ER8;Q9BXB1 AB209743;ABBA01060971;ABBA01060972;ABBA01060973;AC090597;AC100771;AF257182;AF346711;AI699025;AMYH01003456;BC033039;CB047435;CH471064;NM_018490 AAF68989;AAH33039;AAK31153;ABM83401;ABM86613;BAD92980;EAW68285;EAW68286;NP_060960;Q9BXB1 Hs.502176 1698116;1737021;1748555;1774093;1797634;2115561;2117106;2122806;2186549;5093010 A006R28;A009E07;D11S2772;D11S4640;D11S4703;G32467;GPR48_2097;RH102590;RH36159;SHGC-110152 BNMD17;GPR48 G protein-coupled receptor 48;G-protein coupled receptor 48;G-protein-coupled receptor 48;OTTHUMP00000164774;OTTHUMP00000164775;OTTHUMP00000232237;leucine-rich repeat-containing G protein-coupled receptor 4;leucine-rich repeat-containing G-protein coupled receptor 4 APPROVED protein-coding ENSG00000205213 13299 05978 181500;606666;615311 VALIDATED 1322345 LGI3 leucine-rich repeat LGI family, member 3 8 8 8 p21.3 20966267 20976328 - 22060288 22070289 - 22004343 22014344 - 6480464 18628660;15489334;14702039;12975309;12477932;12217514;12095917;12023020;23505323 203190 A5PLP2;E5RIV5;H0YAP4;Q8N145 ABBA01005505;ABBA01005506;AC105206;AF467956;AJ487518;AJ487961;AK090946;AMYH01018565;AY358116;BC036494;BC042542;BC142997;CH471080;NM_139278 AAH42542;AAI42998;AAM49554;AAQ88483;BAC03553;CAD31786;CAD32308;EAW63708;EAW63709;NP_644807;Q8N145 Hs.33470 1664111 WI-15206 LGIL4 LGI1-like protein 4;OTTHUMP00000162355;OTTHUMP00000224817;OTTHUMP00000224818;leucine-rich glioma-inactivated protein 3;leucine-rich repeat LGI family member 3 protein-coding ENSG00000168481 18711 06432 608302 VALIDATED 69097 LHB luteinizing hormone beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008] 19 19 q13.32 54211049 54212159 - 49519237 49520347 - 1600613;1580863;6480464;6907045;7240710 15602022 10484773;6785294;14557487;19146763;18767927;18703851;18439297;17761593;16358135;17507624;16103457;16410673;15569941;14871891;14585810;12746844;12734546;12700240;12683946;12419040;12356936;12042273;11870227;11861891;11829319;10854700;10065776;9886510;9619532;9457942;8979264;8961276;8663226;7679977;7513655;6690982;4719207;4685398;3470775;2424697;1991473;1727547;1495492;1191677;18240029;19106225;19129711;19453261;19574343;19598235;19890021;20173016;20430510;4368999;20734064;23015653;22865884;21353371;21458524;21764500;22108961;22209983;22546001;23160221 3972 P01229 ABBA01032950;AC008687;AF397591;AMYH01009908;CH471177;NG_011464;NG_033041;NM_000894;S71273;X00264 AAD14960;AAI60107;AAL69719;CAA25067;EAW52432;NP_000885;P01229 Hs.154704 1847990;2151237;5492491;5493027 A002E14;RH47492;UniSTS:481308;UniSTS:483811 CGB4;LSH-B;hLHB LSH-beta;interstitial cell stimulating hormone, beta chain;luteinizing hormone beta;luteinizing hormone beta subunit;lutropin beta chain;lutropin subunit beta APPROVED protein-coding ENSG00000104826 6584 01072 152780 REVIEWED 1605118 LGR5 leucine-rich repeat containing G protein-coupled receptor 5 12 12 q22-q23 70120080 70264889 + 71833813 71978622 + 6480464 21577318;21125339;21436631;20581827;19813087;9642114;19602701;19197002;19139842;19030762;19020324;19020323;18688030;18591388;18372903;17934449;16575208;12601349;12477932;10935549;9849958;17554300;19670153;19720844;19794065;19833888;19862325;19933996;20042737;20195621;23438436;23439653;19549212;20571754;20712903;20879858;20889853;20927120;20384634;22815884;21273608;22999937;21345220;21693646;21829496;21978106;22805276;23356221;22322201;22945475;22473993;22530031;22986809;22923071;22969042;23127514 8549 D8MCT0;O75473 ABBA01026513;ABBA01026514;AC078860;AC090116;AF061444;AF062006;AK075399;AK294985;AK315133;AMYH01004578;BC096324;BC096325;BC096326;BC099650;CA412916;CH471054;DC323352;DR003044;FN820440;NM_001277226;NM_001277227;NM_003667 AAC28019;AAC77911;AAH96324;AAH96325;AAH96326;AAH99650;BAG58053;CBL95002;EAW97258;EAW97259;NP_001264155;NP_001264156;NP_003658;O75473 Hs.658889 1681434;1706352;1724389;1725523;1746293;1797636;2142645 AFMA047XB9;G64531;GPR49_2094;RH119160;RH121304;RH92483;SHGC-80742 FEX;GPR49;GPR67;GRP49;HG38;MGC117008 G protein-coupled receptor 49;G protein-coupled receptor 67;G-protein coupled receptor 49;G-protein coupled receptor 67;G-protein coupled receptor HG38;OTTHUMP00000241504;OTTHUMP00000241505;OTTHUMP00000241506;leucine-rich repeat-containing G protein-coupled receptor 5;leucine-rich repeat-containing G-protein coupled receptor 5;orphan G protein-coupled receptor HG38 APPROVED protein-coding ENSG00000139292 4504 05979 606667 VALIDATED 737217 LHCGR luteinizing hormone/choriogonadotropin receptor This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008] 2 2 p21 48767417 48836367 - 48913913 48982880 - 1580863;1600291;2292537;2292541;2289157;2302177;2302176;2292545;2292539;1566529;6480464;7240710 8929952;11857565;17692113;11994539;15044717;15967102;12679452;17709176;2502842 21330483;7719343;9626653;10617611;19403562;19356624;19147490;19086053;19064572;19010824;18848524;18772599;18767927;18758818;18647647;18641392;18596044;18508780;18439297;18433292;18411916;18372343;18313839;18300940;18217981;18162522;17609213;17556863;17548147;17458905;17293445;17092637;17074323;17055147;17052834;17045394;17045393;16943418;16837644;16709601;16344560;16332935;16135786;15908694;15890674;15889138;15878956;15788387;15607529;15539429;15304512;15304492;15292356;15169923;15084485;15031322;15016840;14764820;14605099;14594799;14507927;22002533;12972613;12933660;12850276;12843195;12816543;12770743;12727981;12519858;12450321;12444891;12270268;12242044;12091390;12088926;12040016;11988313;11943741;10580072;10493819;10342833;10215412;9858858;9851790;9661624;9626144;9558473;9514160;9467560;9435458;9238862;9215288;8829636;8747461;8559204;8281137;7757065;7714085;7692306;7629248;7556872;3470775;2293030;2254302;2249480;2244890;1922095;1651314;11867621;11445554;20374734;20634197;18240029;18971217;19129711;19246536;19394610;19453261;19492585;19508998;19551906;19574343;19598235;19616090;19636197;20173016;20424473;2791656;9528938;12036966;21151128;20835841;21193408;20444430;20570710;20646984;18577758;20716560;20734064;22902918;23071612;23225038;21690095;21147848;23118426;21683950;22260850;21575145;21490077;21711548;21622536;22309849;21720050;22829776;21989932;22207559;22369774;22355044;22659248;22245602;22356187;22885925;22882535;23285091;23537643;23044874;22546001 3973 E7ENI1;E7EQB5;E7ESK4;E9PDH1;H7C226;P22888;R4GN57 ABBA01075197;ABBA01075198;AC073082;AC087816;AF024642;AF082076;AK123498;AMYH01010339;BX101581;CH471053;DA376746;M63108;M73746;NG_008193;NG_033050;NM_000233;S57793;X84753;X84763 AAA59515;AAA70231;AAB19917;AAB88417;AAC98291;AAI56304;AAI57029;AAX88979;AAY15065;CAA59234;EAX00190;EAX00191;EAX00192;NP_000224;P22888 Hs.468490 1744715;1744727;1744923;1760415;2110955;2132417;2141304;5017923;5096100 073WF3;D2S215E;D2S2593;GDB:554779;GDB:555464;GDB:581104;LHCGR;RH17720;SHGC-142551 FLJ41504;HHG;LCGR;LGR2;LH/CG-R;LH/CGR;LHR;LHRHR;LSH-R;ULG5 OTTHUMP00000159570;OTTHUMP00000200502;OTTHUMP00000200503;OTTHUMP00000200504;OTTHUMP00000200506;hypergonadotropic hypogonadism;lutropin-choriogonadotropic hormone receptor;lutropin/choriogonadotropin receptor APPROVED protein-coding ENSG00000138039 6585 01073 152790;176410;238320 REVIEWED 1344000 LGSN lengsin, lens protein with glutamine synthetase domain This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 6 6 6 pter-q22.33 62145321 62189340 - 64047515 64087841 - 63985856 64029882 - 6480464 19459848;17161372;17010935;16273301;16005676;14574404;12477932;12107413;12107412;20379614;21621269;22318606;23251661 51557 Q5TDP6 ABBA01023966;AF242388;AL121949;AL450346;AL590456;AMYH01016386;AMYH01016387;BC130366;BC130368;CH471143;DQ682605;DQ682606;NM_001143940;NM_016571 AAF61255;AAI30367;AAI30369;ABG75902;ABG75903;EAW88493;NP_001137412;NP_057655;Q5TDP6 Hs.149585 2107163;5020948;5021431 G35510;GLULD1__6814;L17702 GLULD1;LGS;MGC163238;MGC163240 OTTHUMP00000016672;OTTHUMP00000016673;glutamate-ammonia ligase (glutamine synthase) domain containing 1;glutamate-ammonia ligase domain-containing protein 1;lengsin;lens glutamine synthase-like;lens glutamine synthetase-like APPROVED protein-coding ENSG00000146166 21016 13585 611470 REVIEWED 731860 LGMN legumain This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008] 14 14 q32.1 92239907 92284765 - 93170152 93215047 - 1580863;6480464;6907045 9065484;18029348;18374643;16341674;15788679;15489334;15100291;15583024;15951480;22441772;12860980;12477932;11085925;9891971;9872320;9821970;9742219;8893817;8125298;20536387;20074384;18377911;19615732;16344560;136644;22718532;22939629;19453521;21139048;21906983;16009940;22232165;21988832;23326369;22268729;22902879 5641 G3V263;G3V2E9;G3V2T4;G3V3Z4;G3V4E4;G3V4H2;G3V4P5;G3V5B2;H0YJN9;Q53XC6;Q86TV2;Q86TV3;Q96CY7;Q99538 ABBA01030447;ABBA01030448;ABBA01030449;ABBA01030450;ABBA01030451;AK225822;AK291534;AK291560;AK297074;AK297780;AL132987;AL136332;AMYH01005962;BC003061;BC013678;BM838821;BX161380;BX161422;BX161434;CD366588;CH471061;CR457406;D55696;DA347449;FB717466;FB717468;NM_001008530;NM_005606;Y09862 AAH03061;AAH13678;ABM82810;ABM85996;ABM85997;ABW03452;BAA09530;BAF84223;BAF84249;BAH12490;BAH12664;CAA70989;CAD61872;CAD61895;CAD61906;CAG33687;CAS91767;CAS91768;EAW81500;EAW81501;NP_001008530;NP_005597;Q99538 Hs.18069 1650077;1658738;1665151;1850756;5018017;5022578 D1S1423;G35826;G35862;LGMN-1;RH78327;SHGC-169 AEP;LGMN1;PRSC1 OTTHUMP00000245416;OTTHUMP00000245418;OTTHUMP00000245419;OTTHUMP00000245421;asparaginyl endopeptidase;cysteine protease 1;legumain;protease, cysteine 1;protease, cysteine, 1 (legumain) APPROVED protein-coding ENSG00000100600 9472 04017 602620 REVIEWED 6766895 LHFPL3-AS2 LHFPL3 antisense RNA 2 7 104535075 104567092 - 723809 AACC02000004;ABBA01057964;ABBA01057965;AC007384;AMYH01017816;BC050337;CH236947;NR_027374 Hs.124316 1338411;2171844;7185198 D7S1530;WI-5394 APPROVED miscrna 44106 PREDICTED 1353750 LGR6 leucine-rich repeat containing G protein-coupled receptor 6 This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 175287040 175412795 + 200429741 200555512 + 202163118 202288889 + 1580863;6480464 22889411;16710414;15489334;14702039;12975309;12477932;12044878;10935549;8889548;22615920;22944692 59352 D6R9F0;Q5T508;Q9HBX8 AB049405;AB083616;ABBA01027504;ABBA01027505;ABBA01027506;ABBA01027507;ABBA01027508;AF088074;AF190501;AK027377;AK123055;AL356953;AMYH01001645;AMYH01001646;AMYH01001647;AY358119;BC038795;BC047905;BM699180;CH471067;CQ840811;NM_001017403;NM_001017404;NM_021636 AAG17168;AAH47905;AAQ88486;BAB39854;BAB55071;BAB89329;CAH05693;EAW91407;EAW91408;EAW91409;EAW91410;NP_001017403;NP_001017404;NP_067649;Q9HBX8 Hs.497402 1337357;1698284;1707288;2142817 D1S1727;RH102679;RH64613;SHGC-79247 FLJ14471;GPCR;VTS20631 OTTHUMP00000038794;OTTHUMP00000038795;OTTHUMP00000038796;OTTHUMP00000217676;gonadotropin receptor;leucine-rich repeat-containing G protein-coupled receptor 6;leucine-rich repeat-containing G-protein coupled receptor 6 APPROVED protein-coding ENSG00000133067 19719 05974 606653 REVIEWED 1601697 LHFPL1 lipoma HMGIC fusion partner-like 1 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X q23 112359143 112408638 - 111760535 111810031 - 111873879 111923375 - 6480464 16344560;15905332;15620218;15489334;12975309;12477932;10329012;8889549 340596 Q86WI0 ABBA01043144;ABBA01043145;ABBA01043146;ABBA01043147;ABBA01043148;ABBA01043149;ABBA01043150;ABBA01043151;ABBA01043152;AC000114;AK289946;AL034450;AMYH01022846;AY217350;AY358208;BC100785;BC100786;BC100787;DA305197;NG_012629;NM_178175 AAI00786;AAI00787;AAI00788;AAO60107;AAQ88575;BAF82635;NP_835469;Q86WI0 Hs.297420 1669980;2176638 AL023611;AL031558 MGC118798;MGC118800;MGC118801 LHFP-like protein 1;OTTHUMP00000023865;lipoma HMGIC fusion partner-like 1 protein APPROVED protein-coding ENSG00000182508 6587 06610 300566 REVIEWED 1343394 LHON Leber optic neuropathy 3974 6591 1347444 LHFP lipoma HMGIC fusion partner This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 13 13 13 q12 20971004 21230116 - 38815029 39075356 - 39917029 40177356 - 6480464 10329012;16344560;15905332;15489334;15057823;12477932;8125298;22538188;22745009 10186 Q9Y693 ABBA01021311;ABBA01021312;ABBA01021313;AF098807;AK129819;AK223369;AK313036;AL136358;AL137388;AL138685;AL158194;AMYH01005048;AMYH01005049;BC017824;CH471075;DA375214;NM_005780 AAD31386;AAH17824;ABM82910;ABM86100;BAD97089;BAG35869;EAX08616;EAX08617;NP_005771;Q9Y693 Hs.507798 1336537;1724467;1737355;1756653;1772202;1779488;1782882;1782914;1848403;2115051;2119721;2126614;2144083;2153453;2153901;2170205;5022747 A004V01;D13S1253;D13S947;G17714;LHFP;RH122398;RH44814;RH45065;RH46117;RH68375;SHGC-143706;SHGC-153466;SHGC-154037;SHGC-155177;SHGC-34363;SHGC-56345;WIAF-1647 MGC22429 OTTHUMP00000018296;lipoma HMGIC fusion partner APPROVED protein-coding ENSG00000183722 6586 09464 606710 REVIEWED 1349891 LHFPL3 lipoma HMGIC fusion partner-like 3 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22.2 98775122 99354695 + 103756340 104336241 + 103969104 104549005 + 6480464 19401682;15905332;14702039;12690205;12477932;10329012;9847074;20379614;21552555 375612 A4D0Q5;C9JA52;F5GZM2;F5H0S3;Q86UP9 AACC02000004;AACC02000005;ABBA01057965;ABBA01057966;ABBA01057967;ABBA01057968;ABBA01057969;ABBA01057970;ABBA01057971;ABBA01057972;ABBA01057973;ABBA01057974;AC000117;AC002432;AC007384;AC007558;AC079796;AC091286;AK124251;AK299759;AMYH01017814;AMYH01017815;AMYH01017816;AW296968;AY260763;BC129937;BC129938;BC129941;CH236947;NM_199000 AAI29938;AAI29939;AAI29942;AAP14954;BAG61648;EAL24407;NP_945351;Q86UP9 Hs.659164 1299899;1338390;1339800;1650913;1651642;1656645;1672044;1722159;1722989;1732545;1751599;1770473;1771659;1786350;1795760;1851223;1855055;2110487;2131881;2132276;2139082;2147463;2161315;2171844;2180655;5021892;7185564;7186803 D7S1493;D7S1629;D7S1799;D7S2353;D7S2446;D7S2494;D7S2705;EIF4E_1193;G10704;G20190;G31696;G31784;G60129;G60594;GDB:1317168;GDB:1318012;GDB:1318468;GDB:3755033;GDB:4585119;LHFPL3__6394;RH69391;SHGC-105590;SHGC-156069;STS-N33569;WI-5394;ha2344 LHFPL4 LHFP-like protein 3;OTTHUMP00000211895;lipoma HMGIC fusion partner-like 3 protein;lipoma HMGIC fusion partner-like 4 APPROVED protein-coding 6589 17273 609719 REVIEWED 6767254 LHFPL3-AS1 LHFPL3 antisense RNA 1 7 q22.1 104436953 104444539 - 12477932 645591 AACC02000004;ABBA01057969;AC079796;AC091286;AMYH01017815;BC012751;BC013905;BU161581;CH236947;NR_034141;NR_034142 Hs.658835 1650913;1651642;1732545;2147463 D7S1493;D7S2353;GDB:4585119;STS-N33569 APPROVED miscrna ENSG00000226869 40341 VALIDATED 1320443 LHFPL2 lipoma HMGIC fusion partner-like 2 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 73674222 73837829 - 77816794 77980404 - 77781038 77944648 - 6480464 16344560;15905332;15146197;14702039;10329012;9039502;8889548;12477932;19668339;20379614;21906983 10184 Q6ZUX7 ABBA01061998;ABBA01061999;AC010252;AC010585;AK091868;AK125227;AMYH01015432;AY309920;BC136335;BC136336;BU735939;CH471084;CN314535;CR936660;D86961;DA094988;DB292748;NM_005779 AAI36336;AAI36337;AAP74733;BAA13197;BAC86089;EAW95818;EAW95819;NP_005770;Q6ZUX7 Hs.670094;Hs.79299 1656407;1696480;1722729;1725323;1751633;2109467;2167644 B347YF9;G60302;LHFPL2_9056;RH118979;SHGC-105576;SHGC-32444;SHGC-79805 DKFZp781E0375;KIAA0206 LHFP-like protein 2;OTTHUMP00000222104;lipoma HMGIC fusion partner-like 2 protein APPROVED protein-coding ENSG00000145685 6588 17272 609718 REVIEWED 1347478 LHFPL5 lipoma HMGIC fusion partner-like 5 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.31 37327661 37346425 + 35881049 35899830 + 35773071 35791852 + 6480464;7240710 19102128;16459341;15905332;12477932;21816241;20301607 222662 B3KX66;Q8TAF8 ABBA01038243;AK126841;AL157823;AMYH01016268;BC028630;CH471081;NG_012184;NM_182548 AAH28630;ABM82134;ABM85317;BAG54378;EAX03852;NP_872354;Q8TAF8 Hs.367947 DFNB67;MGC33835;TMHS;dJ510O8.8 LHFP-like protein 5;OTTHUMP00000016278;lipoma HMGIC fusion partner-like 5 protein;tetraspan membrane protein of hair cell stereocilia APPROVED protein-coding ENSG00000197753 21253 13989 609427;610265 REVIEWED 1604456 LHFPL4 lipoma HMGIC fusion partner-like 4 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 9474743 9530187 - 9515045 9570486 - 9540045 9595486 - 6480464 15905332;12477932;20379614 375323 Q7Z7J7 ABBA01020408;ABBA01020409;ABBA01020410;ABBA01020411;AC018506;AC026194;AMYH01012964;AY278320;BC029607;BC113964;CH471055;NM_198560 AAP37013;EAW63964;NP_940962;Q7Z7J7 Hs.56782 MGC133162 LHFP-like protein 4;OTTHUMP00000207205;lipoma HMGIC fusion partner-like 4 protein APPROVED protein-coding 29568 17361 610240 REVIEWED 1317585 LHX4 LIM homeobox 4 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010] 1 1 q25.2 178466065 178510811 + 180199433 180244188 + 6480464;7240710 18445675;18073311;18053794;17667940;15998782;15567726;14714741;12477932;12118377;11844481;11567216;10788441;7913017;21270112;17527005;19856252;20211142;20800603;20534763;21965270;22232309;23029363 89884 H0YKF4;Q969G2 AB037683;AB055703;AB055704;ABBA01027796;AF179849;AF282899;AF405430;AL139141;AMYH01001537;AY053457;AY817172;AY817173;AY817174;BC011759;BX954266;CH471067;NG_008081;NM_033343 AAH11759;AAK69169;AAK70923;AAL07260;AAM91896;AAV67806;AAV67807;AAV67808;ABM83830;ABM87154;BAB62817;BAB62818;BAC01272;EAW91078;NP_203129;Q969G2 Hs.658487 1670537;1797820;2124398;2132250;2132252;2177013 A006H48;AL009306;G20828;LHX4_2030;SHGC-75972;WI-15451 CPHD4;FLJ22769;Gsh-4;Gsh4 LIM homeobox protein 4;LIM/homeobox protein Lhx4;OTTHUMP00000033083 APPROVED protein-coding 21734 03686 262700;602146 REVIEWED 1606248 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase 10 10 10 q26.13 119922531 120076588 + 126140402 126292699 + 126150341 126302710 + 6480464;6907045 14702039;18029348;18268499;12477932;12801912;16385451;16430861;20379614;22443383;22589738;23251661 64077 Q5T1Z0;Q9H008 ABBA01034143;ABBA01034144;ABBA01034145;ABBA01034146;ABBA01034147;ABBA01034148;AK055532;AL391708;AL445237;AL513190;AMYH01003154;AMYH01003155;AMYH01003156;BC007324;BC073172;BC110344;BC113629;BC113631;CH471066;EF151005;NM_001167880;NM_022126 AAI10345;AAI13630;AAI13632;ADR82914;BAG51532;EAW49264;EAW49265;EAW49266;EAW49267;EAW49268;EAW49269;NP_001161352;NP_071409;Q9H008 Hs.527748 1335655;1671656;1671658;1730241;1763697;1765575;1782156;2176820 A005K22;D10S2322;D10S237E;G20284;RH44275;SHGC-147372;SHGC-149036;SHGC-155528 FLJ44846;FLJ46044;HDHD2B;MGC117251;MGC142189;MGC142191 OTTHUMP00000020691;OTTHUMP00000020692;OTTHUMP00000020693;hLHPP;phospholysine phosphohistidine inorganic pyrophosphate phosphatase protein-coding ENSG00000107902 30042 17274 VALIDATED 1352685 LHX3 LIM homeobox 3 This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 9 9 q34.3 138227917 138236776 - 139088096 139096955 - 1580863;6480464;7240710 10598593;19126629;18583962;18407919;17327381;16613990;16394081;16179410;15567726;15517599;15271874;14714741;14646405;12642495;22238406;12477932;11882901;11470784;10903894;10835633;10818088;10788441;10717474;10593900;10431247;9452425;7665181;7626792;21249393;15865204;20189936;20534763;8889548;21697133;22194342;22286346;23408906;22503243 8022 F1T0D5;F1T0D9;Q9UBR4 AB593062;AB593063;AB593064;AB593065;AB593066;AB593067;ABBA01030064;ABBA01030065;AF096169;AF156888;AF156889;AF211950;AF214637;AF367089;AL138781;AMYH01021858;BM665174;BM799949;BU165468;CH471090;NG_008097;NM_014564;NM_178138 AAF17292;AAF26412;AAF36808;AAF36809;AAG10399;AAI52819;AAI56736;AAL26314;BAJ84009;BAJ84010;BAJ84011;BAJ84012;BAJ84013;BAJ84014;EAW88205;EAW88206;NP_055379;NP_835258;Q9UBR4 Hs.148427 2177917 WI-14818 CPHD3;DKFZp762A2013;LIM3;M2-LHX3 LIM homeobox protein 3;LIM/homeobox protein Lhx3;LIM/homeodomain protein LHX3;OTTHUMP00000022567;OTTHUMP00000022568 APPROVED protein-coding ENSG00000107187 6595 02783 221750;600577 REVIEWED 732963 LHX1 LIM homeobox 1 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010] 17 17 q12 32368612 32374607 + 35294772 35301915 + 1580863;6480464 9212161;7700351;16625196;15489334;12477932;12438757;11882901;9452425;8954926;10623575;12642491;19849868;16022279;19615554;19889212;20797712;21132009;9890059;22875024;21778788;22740494;22217964;22231913 3975 K7EP63;P48742;Q58F18 ABBA01012433;AC023315;AC025882;AK298253;AK308646;AMYH01008361;BC020470;BC036856;BC101674;BC111936;BE612590;BF512551;CH471199;NM_005568;U14755 AAA21644;AAH20470;AAI01675;AAI11937;ABZ92015;BAG60518;EAW57574;NP_005559;P48742 Hs.443727 2163520 RH71201 LIM-1;LIM1;MGC126723;MGC138141 LIM homeobox protein 1;LIM/homeobox protein Lhx1;OTTHUMP00000164082;hLim-1;homeobox protein Lim-1 APPROVED protein-coding ENSG00000132130 6593 09067 601999 REVIEWED 733849 LHX2 LIM homeobox 2 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008] 9 9 9 q33.3 97421143 97442696 + 125813710 125835263 + 126773889 126795442 + 1580863;6480464 15489334;14702039;12477932;10593900;10431247;10051612;9697309;8649822;11069920;20949537;20211142;21203406;22535646 9355 B3KNJ5;H0YM35;H7C0H1;P50458 ABBA01043739;AC006450;AK027597;AK094511;AL158052;AMYH01021703;BC034458;BC093662;BC112185;CH471090;NM_004789;U11701 AAB08752;AAH93662;AAI12186;ABZ92216;BAC04371;BAG51357;EAW87576;EAW87577;NP_004780;P50458 Hs.696425 1797818;2153722 LHX2_2239;NIB1517 LH2;MGC138390;hLhx2 LIM HOX gene 2;LIM/homeobox protein Lhx2;OTTHUMP00000022092;OTTHUMP00000022093;homeobox protein LH-2 APPROVED protein-coding ENSG00000106689 6594 04786 603759 REVIEWED 1354198 LIFR leukemia inhibitory factor receptor alpha This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 p13-p12 38510822 38631253 - 38475065 38595507 - 1581860;1600614;1581858;1580863;6480464;6907045;7240710 16698589;14740318;15786720 12643274;8999038;7957045;12707266;1915266;18775332;17436251;17332938;17028186;16949591;16759928;16344560;16051226;15342556;15184896;15180980;15044601;14504285;12707269;12601009;12574225;12047380;11943154;11834739;11834704;11812136;11730732;11285233;11042511;10858440;10854707;10800945;10101017;9920829;9525740;9346946;8864865;8583009;8547494;8276403;7777512;7512571;1542794;1536831;10383413;19453261;19733004;19879916;20237496;20654748;23001183;22535017;21617854;21963094;23000965;23382563;20639865;21971603;21966484;23579219;22829597 3977 A8K1Z4;D6RF33;D6RJ94;H0YAF2;P42702 ABBA01024200;ABBA01024201;AC010457;AC091823;AK290059;AK308158;AK309882;AMYH01015040;BP219669;BQ008945;BX648635;CH471119;DA835819;DA857408;NG_011817;NM_001127671;NM_002310;U66563;X61615 AAB61897;AAI41429;AAI53097;BAF82748;CAA43805;EAW55972;NP_001121143;NP_002301;P42702 Hs.133421 1647235;1652084;1682113;1684716;1686048;1686078;1686582;1689600;1735438;1735552;1777496;1781194;1794310;1796248;2121800;2125117;2178958;2185600 D5S1570E;D5S1675E;D5S2471;D5S2642;G19191;LIFR_185;PMC311006P4;RH26031;RH41252;RH48815;RH65436;RH65837;RH91753;RH93532;SHGC-52479;SHGC-60516;STS-R38064;human.LIFR CD118;FLJ98106;FLJ99923;LIF-R;SJS2;STWS;SWS CD118 antigen;LIF receptor;OTTHUMP00000161786;OTTHUMP00000221308;leukemia inhibitory factor receptor APPROVED protein-coding ENSG00000113594 6597 01048 151443;601559 REVIEWED 732692 LHX5 LIM homeobox 5 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. [provided by RefSeq, Jul 2008] 12 12 12 q24 113527582 113536765 - 112385077 112394260 - 113900694 113909877 - 1580863;6480464 15489334;12782966;12477932;11566211;11137295;10325223 64211 Q9H2C1 ABBA01019960;AC009773;AF291181;AMYH01004761;BC109230;CH471054;NM_022363 AAG36963;AAI09231;EAW98060;NP_071758;Q9H2C1 Hs.302029 MGC129689 LIM/homeobox protein Lhx5;OTTHUMP00000241528 APPROVED protein-coding 14216 09344 605992 REVIEWED 1606630 LHX8 LIM homeobox 8 The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 1 1 1 p31.1 73839451 73872551 + 75366707 75399806 + 75594119 75627218 + 6480464 21143530;18978678;17624344;16690745;16327884;14702039;12477932;10611327;9598319;20572854;20634891;20672350;17207965;21462296;21856374;22204396;17305537;18574220;20082688;22435649 431707 H0YL58;Q68G74 AB050476;ABBA01074422;AC099786;AK094667;AMYH01000712;AY449521;AY449522;AY449523;BC036423;BC040321;CH471059;NM_001001933;NM_001256114 AAH40321;AAR18074;AAR18075;ADQ31972;BAB40306;EAX06405;NP_001001933;NP_001243043;Q68G74 Hs.403934 1765973;2180995 SHGC-149363;SHGC-6203 Lhx7 LIM homeobox protein 8;LIM-homeodomain protein Lhx8;LIM/homeobox protein Lhx8;OTTHUMP00000011261;OTTHUMP00000011262 APPROVED protein-coding ENSG00000162624 28838 17275 604425 REVIEWED 1353192 LIG2 ligase II, DNA, ATP-dependent 3979 6599 615112 1354474 LHX9 LIM homeobox 9 This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 1 1 1 q31.1 171004535 171021892 + 196148258 196165896 + 197881635 197899273 + 1580863;6480464 19545367;16710414;15761153;14702039;11397841;9880598;7566098;12477932;19568415 56956 H0Y330;H0YL54;Q9NQ69 AA316988;ABBA01027585;AJ277914;AJ277915;AJ277916;AJ296272;AK097614;AL590115;AMYH01001625;AY273889;BC131622;CH471067;NM_001014434;NM_020204 AAI31623;AAP32471;CAB97493;CAB98128;CAC33174;EAW91287;EAW91288;EAW91289;EAW91290;EAW91291;EAW91292;NP_001014434;NP_064589;Q9NQ69 Hs.442578;Hs.706475 1797824;5492298 LHX9_2217;Lhx9 LIM homeobox protein 9;LIM/homeobox protein Lhx9;OTTHUMP00000033675;OTTHUMP00000033676;OTTHUMP00000033677;OTTHUMP00000033678 APPROVED protein-coding ENSG00000143355 14222 07299 606066 REVIEWED 1314642 LHX6 LIM homeobox 6 This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and may be involved in the control of differentiation and development of neural and lymphoid cells. Two alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95613158 95639326 - 124004679 124030840 - 124964856 124991091 - 6480464 10393337;16732332;16381901;16344560;15489336;15489334;15164053;14702039;12477932;11230166;11076863;20428825;11256614;20201926;20379614;21240459;23229549;22435649 26468 H0YKH7;H0YMA3;H0YMH3;H0YMY8;H0YN75;Q9NTK3;R4GNJ1 AB031041;AB031042;ABBA01043709;ABBA01043710;AI265821;AK126982;AK289827;AK297175;AK299709;AK313808;AL136570;AL162424;AMYH01021694;BC103936;BC103937;BC103938;CH471090;DA799524;NG_029683;NM_001242333;NM_001242334;NM_001242335;NM_014368;NM_199160 AAI03937;AAI03938;AAI03939;ABZ92229;BAA83422;BAA83423;BAF82516;BAG36544;BAH12516;BAH13108;CAB66505;CAL37575;CAL38240;EAW87515;EAW87516;EAW87517;NP_001229262;NP_001229263;NP_001229264;NP_055183;NP_954629;Q9UPM6 Hs.103137 1664269;1797822 LHX6_2099;RH36482 LHX6.1;MGC119542;MGC119544;MGC119545 LIM homeobox protein 6;LIM homeodomain protein 6.1;LIM/homeobox protein Lhx6;LIM/homeobox protein Lhx6.1;OTTHUMP00000022046;OTTHUMP00000022047;OTTHUMP00000022048;OTTHUMP00000196635 APPROVED protein-coding ENSG00000106852 21735 10498 608215 REVIEWED 1316364 LIAS lipoic acid synthetase The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 4 p14 39898493 39917063 + 39137060 39155668 + 39460665 39479273 + 1580863;6480464;6907045 19074983;15489334;12477932;11389890;11124703;18029348;20877624;17207965;22152680 11019 C9JCF6;D6RCP8;O43766 ABBA01004125;ABBA01004126;AC021148;AI373464;AJ224162;AK026289;AK291985;AK292238;AK303429;AL528262;AMYH01014119;AV729111;BC023635;BC062751;BF434814;CH471069;HC916357;HC916375;NG_032111;NM_001278590;NM_001278591;NM_001278592;NM_006859;NM_194451 AAH23635;AAH62751;ADQ32257;BAF84674;BAF84927;BAG64479;CAA11859;CBN72404;CBN72413;EAW92932;EAW92933;EAW92934;NP_001265519;NP_001265520;NP_001265521;NP_006850;NP_919433;O43766 Hs.550502 2108809;5015961 D15S1477;LIAS_9211 HUSSY-01;LAS;LIP1;LS;MGC23245;PDHLD OTTHUMP00000125208;OTTHUMP00000125209;OTTHUMP00000218431;OTTHUMP00000218432;lip-syn;lipoate synthase;lipoic acid synthase;lipoyl synthase, mitochondrial APPROVED protein-coding ENSG00000121897 16429 09514 607031;614462 REVIEWED 7246675 LIFR-AS1 LIFR antisense RNA 1 12477932 100506495 ABBA01024201;AC010425;AC091823;AMYH01015040;BC038371;BC045578;BG771462;NR_103553;NR_103554;XR_108573;XR_133399;XR_171497 Hs.657602 1686048;1851607 D5S2614;RH65436 miscrna ENSG00000244968 43600 VALIDATED 736774 LIF leukemia inhibitory factor The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 22 22 q12.2 28966441 28972748 - 30636436 30642840 - 1580863;2326063;2326053;2326058;6480464;6907045 18042242;20221422;20051627 7957045;8999038;12643274;3143918;7867561;7508917;19470478;19453261;19374770;19251277;19213836;19086053;19011087;18953658;18684446;18639869;18637760;18540977;18492704;18468598;18317962;18298054;18258286;18048043;18047677;17979974;17966612;17848619;17702963;17681328;17671691;17652170;17332938;17054938;17000646;16949591;16759928;16648972;16545901;16489116;16341766;16295654;16263181;15905624;15837065;22285730;15731310;15670782;15543003;15489334;15342941;15341921;15180980;15146197;15044601;14715713;14687743;14647442;14557674;14527405;12807438;12764151;12707269;12601009;12579339;12574225;12477932;12218157;12153570;11855863;11811789;11587067;11448119;10591208;10205054;9920829;9847074;9593715;9349722;8489250;8058719;3143916;3128791;2730639;2491897;2475312;1714745;1692837;12089333;22649064;16051226;19255255;19342253;19361790;19495417;19545488;19548631;19550366;19647472;19704963;19751193;19879916;19915574;20074285;20237496;20396801;21155043;20570039;20734064;19913121;20587610;20628086;19541590;20851233;20597819;22520363;20618183;21178106;21399633;21191816;22720020;22905257;21570299;22142941;21527666;21613225;21987111;21129244;21726338;21745467;21966484;22341639;22323722;18029348;22436290;22698642;22712053;23122949;22252755;23128233;22835519;22537815;17411373 3976 P15018 ABBA01055293;AC004264;AI796373;AK315310;AMYH01012705;BC069540;BC093733;BC093735;BC143305;CH471095;CK819709;CN409458;J03261;M27053;M63420;NG_008721;NM_001257135;NM_002309;X13967 AAA51699;AAA53188;AAA59517;AAC05174;AAH69540;AAH93733;AAH93735;BAG37714;CAA32147;EAW59863;NP_001244064;NP_002300;P15018 Hs.2250 1687379;1761299;2146677;5117857;5117859 GDB:624823;GDB:625815;RH27829;SHGC-145300;SHGC-7772 CDF;DIA;HILDA;MLPLI D factor;MLPLI;OTTHUMP00000198698;cholinergic differentiation factor;differentiation inhibitory activity;differentiation stimulating factor;differentiation-inducing factor;differentiation-stimulating factor;hepatocyte-stimulating factor III;human interleukin in DA cells;leukemia inhibitory factor;melanoma-derived LPL inhibitor 2314778 GLUCO97_H APPROVED protein-coding ENSG00000128342 6596 08869 159540 REVIEWED 1348933 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 19 19 19 q13.4 52145583 52153010 + 59796925 59804352 + 55105041 55113687 + 1580863;6480464 9548455;15304001;15489334;12477932;16344560;19658091;20237496;20331378;10781084;10941837;11698424;17998301;18273033;20595277;20634939;21270408;21388353;21547531;21559424 11024 O75019 ABBA01068150;ABBA01068151;AC009892;AF025529;AF025530;AK290919;AK310122;AK311226;AMYH01009976;BC032238;BC047007;BC063009;BC093708;BC101514;CH471135;CS540238;CU024913;CU234142;DA999265;EU915602;NM_001278318;NM_001278319;NM_006863;NR_103501;NR_103502;NR_103503 AAB87663;AAB87664;AAH93708;AAI01515;ACK56068;BAF83608;CAM90896;EAW72261;EAW72262;EAW72263;EAW72264;EAW72265;NP_001265247;NP_001265248;NP_006854;O75019 Hs.710507 1799580;1800796;1809396;1809486;1809836;1810618;1812368;1815162;1818228;1819014;1819454;1831640;1834212;1840004;2042052;2042340;2042440;2042446;2042448;2042456;2042464;2044676;2044790;2044792;2044794;2044796;2044798;2044800;2044802;2044804;2044806;2044808;2044810;2044812;2044814;2044816;2044818;2044820;2044822;2044824;2044826;2044828;2044830;2044832;2044834;2044836;2044838;2044840;2044842;2044844;2044846;2044848;2044850;2044852;2044854;2044856;2044858;2044860;2044862;2044864;2044866;2044868;2044870;2044872;2044874;2045094;2045110;2045118;2045120;2103820;2104112;2104114;2104116;2104118;2104120;2104134;5014257;5022347;5022355;5037738;5038158;5038160;5105018 D1S3689;ECD00082;ECD00642;ECD00660;ECD01260;ECD05690;ECD05735;ECD05910;ECD06302;ECD07191;ECD08615;ECD10171;ECD10573;ECD10794;ECD16957;ECD18254;ECD21186;REN92065;REN92213;REN92265;REN92266;REN92269;REN92270;REN92274;REN92278;REN93396;REN93455;REN93456;REN93457;REN93458;REN93459;REN93460;REN93461;REN93462;REN93463;REN93464;REN93465;REN93466;REN93468;REN93469;REN93470;REN93471;REN93472;REN93473;REN93476;REN93477;REN93478;REN93479;REN93480;REN93481;REN93482;REN93483;REN93484;REN93485;REN93486;REN93487;REN93488;REN93489;REN93490;REN93491;REN93492;REN93493;REN93494;REN93495;REN93496;REN93497;REN93498;REN93499;REN93500;REN93501;REN93502;REN93615;REN93623;REN93627;REN93628;stSG605942;stSG605948;stSG606186;stSG606187;stSG606188;stSG606189;stSG606191;stSG606206 CD85I;LIR-6;LIR6;MGC126563 CD85 antigen-like family member I;OTTHUMP00000068393;OTTHUMP00000195917;leukocyte immunoglobulin-like receptor 6;leukocyte immunoglobulin-like receptor subfamily A member 1;leukocyte immunoglobulin-like receptor subfamily A member 1 soluble isoform protein-coding 6602 07272 604810 REVIEWED 1606816 LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 This gene encodes an immunoglobulin-like cell surface protein preferentially expressed in plasmacytoid dendritic cells (PDCs). This gene is highly expressed in PDCs, and is found to be rapidly down-regulated by interleukin 3 (IL3). This gene is one of the 19 highly related genes that form a leukocyte receptor gene cluster (LRC) at chromosomal region 19q13.4. [provided by RefSeq, Jul 2008] 19 19 q13.4 59536504 59542233 - 54844692 54850421 - 6480464 22674796;19564354;18048391;18006695;16777052;16735691;15094202;12529506;12477932;12384430;11491530;10941842;20331378 23547 P59901 ABBA01068167;AC008746;AC008984;AF041261;AF283989;AMYH01009976;BC038829;BC109198;BC109199;BI834924;CH471135;CU104682;CU467018;NM_012276 AAD02203;AAI09199;AAI09200;AAL36993;EAW72230;EAW72231;EAW72232;NP_036408;P59901 Hs.406708 1667545;1802120;1803826;1805380;1807350;1807438;1808604;2042832;2042834;2042836;2042838;2042840;2042842;2042844;2042846;2042848;2042850;2042852;2042854;2042856;2042858;2042860;2042862;2042864;2042866;2042868;2042870;2042872;2042874;2042876;2042878;2042880;2042882;2042884;2042886;2042888;2042890;2042892;2042894;2042896;2042898;2045374;2103874;2103876;2103878;2103880;2103882;2217490;5096817 ECD01942;ECD02654;ECD02824;ECD03637;ECD04646;ECD04690;ECD05284;ILT7_2925;REN92462;REN92463;REN92464;REN92465;REN92466;REN92467;REN92468;REN92469;REN92470;REN92471;REN92472;REN92473;REN92474;REN92475;REN92476;REN92477;REN92478;REN92479;REN92481;REN92482;REN92483;REN92484;REN92485;REN92486;REN92487;REN92488;REN92489;REN92490;REN92491;REN92492;REN92493;REN92494;REN92495;REN92496;REN93760;RH46148;stSG605979;stSG605982;stSG605983;stSG605984;stSG605985 CD85g;ILT7;MGC129597;MGC129598 CD85 antigen-like family member G;ILT-7;OTTHUMP00000067952;immunoglobulin-like transcript 7;leukocyte immunoglobulin-like receptor subfamily A member 4;leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 4 APPROVED protein-coding ENSG00000239961 15503 09596 607517 REVIEWED 1312194 LIG4 ligase IV, DNA, ATP-dependent The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 13 13 q33-q34 107657791 107668717 - 108859790 108870716 - 1580863;1600305;2317363;6480464;6907045;7240710 12471202;19147782 18952251;18951430;18845326;18830263;18579371;18508926;18440984;18270339;18165945;17963495;17541392;17492771;17290226;17241822;17018785;16857995;16735143;16638864;16571728;16485136;16439205;16412978;16407418;16357942;15958648;15609317;15520013;15509577;15489334;15333585;15256476;15194694;15126335;15057823;14578164;12750264;12682366;12547193;12477932;12361565;12150897;12077346;12036913;12023982;11779494;11702069;11349135;10945980;10854421;10757784;10395545;9705934;9259561;7760816;17567543;17353931;10608806;8798671;9242410;12589063;12517771;9809069;12091904;16291214;18029348;19408343;19332554;19251090;19142223;19127255;19124506;19116388;19092295;19074885;19064572;18990028;22658747;22534089;17396150;19418549;19536092;19573080;19604268;19638463;19661089;19692168;19727724;19773279;19789190;19837014;19859091;20150366;20368557;20400235;20453000;20496165;20496270;20522537;9259651;20568250;20731661;20813000;20610542;20644561;20811692;22990118;11809878;21717429;21982441;21974800;15385968;21988832;23275564;22994770;23219551;12549820 3981 P49917 ABBA01027024;ABBA01027025;AF479264;AI809944;AK292419;AK314844;AL157762;AMYH01005362;AMYH01005363;BC037491;BX648833;CD102896;CH471085;NG_007396;NM_001098268;NM_002312;NM_206937;X83441 AAH37491;AAL77435;ABM83400;ABM86612;BAF85108;BAG37361;CAA58467;EAX09094;EAX09095;EAX09096;NP_001091738;NP_002303;NP_996820;P49917 Hs.166091 1678893;1736364;1788086;1788088;1796250;2170715;2186898;5094995 D13S1452;D13S870E;G67233;G67234;LIG4;LIG4_354;RH98317;SGC35475 DNA joinase;DNA ligase 4;DNA ligase IV;DNA repair enzyme;OTTHUMP00000018690;polydeoxyribonucleotide synthase [ATP] 4;polynucleotide ligase;sealase APPROVED protein-coding ENSG00000174405 6601 03500 254500;601837;602450;606593 REVIEWED 731763 LIG1 ligase I, DNA, ATP-dependent LIG1 encodes DNA ligase I, with functions in DNA replication and the base excision repair process. Mutations in LIG1 that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. [provided by RefSeq, Jul 2008] 19 19 q13.2-q13.3 53310515 53365372 - 48618703 48673560 - 1600089;1580863;1358139;2306716;6480464;6907045;7246935 1351188;18157157;21601536 8696349;9809069;9111189;10559261;19237606;19223468;19223467;19124499;19116388;19064572;18990028;18709642;18676680;18440984;18059021;17494052;17203305;17108146;17081983;16964243;16907646;16731526;15958648;15907772;15871698;15565146;15489334;15302935;14627836;12851383;12477932;12200445;12171929;12009232;11948189;10827190;10523317;9539976;8557490;8530104;8432525;8125298;7489727;2204063;2197279;1881902;1733856;1581963;934827;18655026;19913121;20574454;20575039;20628086;16169070;19170196;19523882;19536092;19573080;19597347;19625176;19628465;19661089;19692168;19773279;20006844;20150366;20226869;20453000;20496165;9081985;20813000;22863883;9649448;21561855;21900206;19471022;21139048;21890473;21906983;22139380;22952233;21963094;23000965;23339595 3978 B4DTU4;B4E135;F5GZ28;M0QY71;M0R0Q7;M0R1G7;M0R1S4;M0R254;P18858;Q2TB12 AB103328;AB208791;ABBA01033009;ABBA01033010;AC011466;AF527418;AK225863;AK297296;AK300370;AK300607;AK303644;AK314210;AMYH01009898;AMYH01009899;BC108318;BC110622;CH471177;M36067;NG_007395;NM_000234 AAA59518;AAI08319;AAI10623;AAM77697;BAC81763;BAD92028;BAG36885;BAG59764;BAG62106;BAG62303;BAG64647;EAW52316;EAW52317;NP_000225;P18858 Hs.1770 1783790;2180803 SHGC-12449;SHGC-132086 MGC117397;MGC130025 DNA ligase 1;dna ligase i;polydeoxyribonucleotide synthase ATP 1;polydeoxyribonucleotide synthase [ATP] 1 APPROVED protein-coding ENSG00000105486 6598 00534 126391 REVIEWED 1601693 LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51859270 51865330 - 59510165 59516221 - 54818353 54824409 - 6480464 16675463;12393390;10941842;19658091;20331378 353514 A6NI73 ABBA01068167;AC008984;AF212842;AF324830;AF499916;AF499917;AF499918;AF499919;AMYH01009976;CH471135;CS300626;CU104682;CU457734;CU467018;EU915611;EU915612;NM_021250;NM_181879;NM_181985;NM_181986 A6NI73;AAF73849;AAI48659;AAI53204;AAK52451;AAN27925;AAN27926;AAN27927;AAN27928;ACK56077;ACK56078;CAK32290;EAW72226;EAW72227;EAW72228;EAW72229;NP_067073;NP_870994;NP_871714;NP_871715 Hs.710986 1810686;1817384;1818366;1818432;1825048;1827978;1829768;1833752;1842272;2042612;2042614;2042616;2042618;2042620;2042622;2042624;2042626;2042628;2042630;2042632;2042634;2042636;2042638;2042640;2042642;2042644;2042646;2042648;2042650;2042652;2042654;2042656;2042658;2042660;2042662;2042664;2042666;2042668;2042670;2042672;2042674;2042676;2044668;2045216;2103826;2103844;2103846;2103848 ECD06338;ECD09742;ECD10240;ECD10275;ECD13625;ECD15112;ECD16016;ECD18021;ECD22339;REN92352;REN92353;REN92354;REN92355;REN92356;REN92357;REN92358;REN92359;REN92360;REN92361;REN92362;REN92363;REN92364;REN92365;REN92366;REN92367;REN92368;REN92369;REN92370;REN92371;REN92372;REN92373;REN92374;REN92375;REN92376;REN92377;REN92378;REN92379;REN92380;REN92381;REN92382;REN92383;REN92384;REN93392;REN93678;stSG605947;stSG605960;stSG605963;stSG605965 CD85;CD85F;ILT-11;ILT11;LILRB7;LIR-9;LIR9 CD85 antigen-like family member F;ILT-11;LIR-9;OTTHUMP00000067953;OTTHUMP00000067954;immunoglobulin-like transcript 11 protein;leukocyte Ig-like receptor 9;leukocyte immunoglobulin-like receptor 9;leukocyte immunoglobulin-like receptor subfamily A member 5;leukocyte immunoglobulin-like receptor subfamily A member 5 soluble;leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 7 APPROVED protein-coding ENSG00000187116 16309 06924 606047 REVIEWED 1320452 LIG3 ligase III, DNA, ATP-dependent This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 17 17 q11.2-q12 30331651 30356201 + 33307517 33332088 + 1580863;2302580;2317363;6480464;6907045;7246935 17412650;19147782;21601536 7565692;15744309;9809069;8978692;19339270;19305408;19064572;18676680;18524993;18440984;18313385;18238776;17643379;17492771;17474147;17353931;17203305;17108146;17081983;17054425;16609022;16492928;16442856;16341674;16195237;15653642;15205355;14627836;12477932;11994275;11281714;10207110;9539976;9363683;9001252;7760816;11163244;11352725;9705932;9136882;8264637;15260972;22242598;20518483;20574454;20644561;12897160;16344560;18029348;19170196;19536092;19573080;19625176;19661089;19692168;19773279;20009512;20226869;20379614;20403997;20453000;20496165;20522537;8889548;20843780;17242407;20731661;20813000;16543152;21390132;15367657;21832049;21816818;20227374;21620500;19471022;15758953;21139048;21890473;21252943;22174317;22505724;22632162 3980 E5KLB5;E5KLB6;K7EJR4;K7ELY6;K7ENR9;K7EQB6;K7ERZ5;P49916 AA872458;ABBA01011223;AC004223;AC022903;AF491645;AK125853;AK300363;AK308407;AMYH01008353;AW166526;BC009026;BC068005;BG470103;BM467239;BM726768;BM759573;CH471147;DB100562;HQ204826;HQ204827;HQ204828;HQ204829;HQ204830;HQ204831;HQ204832;HQ204833;HQ204834;HQ204835;HQ204836;HQ204837;HQ204838;HQ204839;HQ204840;HQ204841;HQ204842;HQ204843;HQ204844;HQ204845;HQ204846;HQ204847;HQ204848;HQ204849;HQ204850;HQ204851;HQ204852;HQ204853;HQ204854;HQ204855;HQ204856;HQ204857;HQ204858;HQ204859;HQ204860;HQ204861;HQ204862;HQ204863;HQ204864;HQ204865;NG_029221;NM_002311;NM_013975;U40671;X84740 AAA85022;AAH09026;AAH68005;AAL91592;ADP89974;ADP89975;ADP89976;ADP89977;ADP89978;ADP89979;ADP89980;ADP89981;ADP89982;ADP89983;ADP89984;ADP89985;ADP89986;ADP89987;ADP89988;ADP89989;ADP89990;ADP89991;ADP89992;ADP89993;ADP89994;ADP89995;ADP89996;ADP89997;ADP89998;ADP89999;ADP90000;ADP90001;ADP90002;ADP90003;ADP90004;ADP90005;ADP90006;ADP90007;ADP90008;ADP90009;ADP90010;ADP90011;ADP90012;ADP90013;ADP90014;ADP90015;ADP90016;ADP90017;ADP90018;ADP90019;ADP90020;ADP90021;ADP90022;ADP90023;ADP90024;ADP90025;ADP90026;ADP90027;ADP90028;ADP90029;ADP90030;ADP90031;ADP90032;ADP90033;ADP90034;ADP90035;ADP90036;ADP90037;ADP90038;ADP90039;ADP90040;ADP90041;ADP90042;ADP90043;ADP90044;ADP90045;ADP90046;ADP90047;ADP90048;ADP90049;ADP90050;ADP90051;ADP90052;ADP90053;BAH13269;CAA59230;EAW80197;EAW80198;EAW80199;NP_002302;NP_039269;P49916 Hs.100299 1788530;1788532;2120806;2141494;2217558;5021990;5491639 D10Chm170;G29180;G67577;G67578;LIG3_3259;MARC_3929-3930:996679185:1;WI-11743 LIG2 DNA ligase 3;DNA ligase III;OTTHUMP00000158641;OTTHUMP00000163854;ligase II, DNA, ATP-dependent;polydeoxyribonucleotide synthase [ATP] 3 APPROVED protein-coding ENSG00000005156 6600 02966 600940 REVIEWED 1354395 LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 Leukocyte Ig-like receptors (LIRs) are a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. All LIRs in subfamily B have an inhibitory function (see, e.g., LILRB1, MIM 604811). LIRs in subfamily A, with short cytoplasmic domains lacking an immunoreceptor tyrosine-based inhibitory motif (ITIM) and with transmembrane regions containing a charged arginine residue, may initiate stimulatory cascades (see LILRA1, MIM 604810). One member of subfamily A (LILRA3) lacks a transmembrane region and is presumed to be a soluble receptor (Borges et al., 1997 [PubMed 9548455]).[supplied by OMIM, Mar 2008] 19 19 q13.4 59491666 59496050 - 54799854 54804265 - 6480464 9151699;19421224;19195718;18439545;16189514;15815690;15489334;15340161;12750859;12651072;12477932;12121272;9548455;9382880;9278324;9079806;20595277;19790059;20331378;21270408;21666788;21559424;20686565;23023329 11026 Q8NHJ2 ABBA01019122;ABBA01019123;AC010518;AF014923;AF014924;AF025527;AF353733;AF482762;AF482763;AF482764;AF482765;AF482766;AF482767;AF482768;AF482769;BC028208;BX280714;CH471135;CU104682;CU457734;CU467018;NM_001172654;NM_006865;U91926;U91927;XM_003960954 AAB68666;AAB68667;AAB87661;AAC51885;AAC51886;AAH28208;AAK58867;AAM18035;AAM18036;AAM18037;AAM18038;AAM18039;AAM18040;AAM18041;AAM18042;ABM82001;ABM85184;EAW72225;NP_001166125;NP_006856;Q8N6C8;XP_003961003 Hs.113277;Hs.624711 1669834;1686881;1757303;1798650;1800796;1802954;1805854;1806062;1806586;1807434;1807436;1808174;1808514;1809152;1809630;1809632;1809770;1809838;1810920;1812742;1815412;1815692;1816122;1820216;1820542;1821520;1821858;1824408;1824642;1826430;1831040;1833258;1833426;1836920;1839530;1839650;1840532;1842324;1843914;1845148;2041902;2041904;2041908;2042074;2042076;2042078;2042080;2042082;2042086;2042088;2042090;2042092;2042094;2042096;2042098;2042100;2042102;2042104;2042106;2042108;2042110;2042112;2042114;2042118;2042120;2042122;2042124;2042126;2042128;2042132;2042134;2042136;2042138;2042140;2042142;2042144;2042146;2042148;2042150;2042152;2042154;2042158;2042160;2042162;2042164;2042166;2042168;2042170;2042174;2042176;2042178;2042180;2042182;2042184;2042186;2042188;2042190;2042192;2042194;2042196;2042198;2042200;2042202;2042204;2042206;2042208;2042210;2042212;2042214;2042216;2042218;2042220;2042222;2042224;2042226;2042228;2042230;2042232;2042234;2042236;2042238;2042240;2042242;2042244;2042246;2042248;2042250;2042252;2042254;2042256;2042258;2042260;2042262;2042264;2042266;2042268;2042270;2042272;2042274;2042276;2042278;2042280;2042282;2042284;2042286;2042288;2042290;2042292;2042296;2042298;2042300;2042302;2042304;2042306;2042460;2042462;2042464;2042466;2042468;2042470;2042472;2042474;2042476;2042478;2042480;2042482;2042484;2042486;2042488;2042490;2042492;2042494;2042496;2042498;2042500;2042502;2042504;2042506;2042508;2042510;2042660;2044688;2044690;2044814;2045154;2045158;2045206;2045208;2045210;2045214;2045216;2103760;2103762;2103770;2103772;2103774;2103776;2103778;2103780;2103782;2103784;2103786;2103788;2103790;2103792;2103794;2103796;2103822;2103824;2103826;2103828;2103830;2119064;2174682;2219168;5105018 A003P13;ECD00165;ECD01260;ECD02367;ECD03879;ECD03984;ECD04250;ECD04688;ECD04689;ECD05068;ECD05239;ECD05565;ECD05807;ECD05808;ECD05877;ECD05911;ECD06458;ECD07382;ECD08742;ECD08884;ECD09101;ECD11182;ECD11346;ECD11846;ECD12015;ECD13302;ECD13419;ECD14329;ECD16656;ECD17771;ECD17856;ECD19624;ECD20947;ECD21008;ECD21453;ECD22365;ECD23168;ECD23791;LILRB5_2728;REN91988;REN91989;REN91991;REN92076;REN92077;REN92078;REN92079;REN92080;REN92082;REN92083;REN92084;REN92085;REN92086;REN92087;REN92088;REN92089;REN92090;REN92091;REN92092;REN92093;REN92094;REN92095;REN92096;REN92098;REN92099;REN92100;REN92101;REN92102;REN92103;REN92105;REN92106;REN92107;REN92108;REN92109;REN92110;REN92111;REN92112;REN92113;REN92114;REN92115;REN92116;REN92118;REN92119;REN92120;REN92121;REN92122;REN92123;REN92124;REN92126;REN92127;REN92128;REN92129;REN92130;REN92131;REN92132;REN92133;REN92134;REN92135;REN92136;REN92137;REN92138;REN92139;REN92140;REN92141;REN92142;REN92143;REN92144;REN92145;REN92146;REN92147;REN92148;REN92149;REN92150;REN92151;REN92152;REN92153;REN92154;REN92155;REN92156;REN92157;REN92158;REN92159;REN92160;REN92161;REN92162;REN92163;REN92164;REN92165;REN92166;REN92167;REN92168;REN92169;REN92170;REN92171;REN92172;REN92173;REN92174;REN92175;REN92176;REN92177;REN92178;REN92179;REN92180;REN92181;REN92182;REN92183;REN92184;REN92185;REN92187;REN92188;REN92189;REN92190;REN92191;REN92192;REN92276;REN92277;REN92278;REN92279;REN92280;REN92281;REN92282;REN92283;REN92284;REN92285;REN92286;REN92287;REN92288;REN92289;REN92290;REN92291;REN92292;REN92293;REN92294;REN92295;REN92296;REN92297;REN92298;REN92299;REN92300;REN92301;REN92376;REN93404;REN93405;REN93468;REN93646;REN93648;REN93673;REN93674;REN93675;REN93677;REN93678;RH25555;RH46519;SHGC-144707;WI-15638;stSG605909;stSG605910;stSG605914;stSG605915;stSG605916;stSG605917;stSG605919;stSG605920;stSG605921;stSG605922;stSG605923;stSG605924;stSG605925;stSG605926;stSG605927;stSG605928;stSG605945;stSG605946;stSG605947;stSG605948;stSG605949;stSG605950 CD85E;HM31;HM43;ILT6;LIR-4;LIR4;e3 CD85 antigen-like family member E;ILT-6;OTTHUMP00000067955;OTTHUMP00000067956;OTTHUMP00000067957;immunoglobulin-like transcript 6;leucocyte immunoglobulin-like receptor;leukocyte immunoglobulin-like receptor 4;leukocyte immunoglobulin-like receptor A3;leukocyte immunoglobulin-like receptor subfamily A member 3;monocyte inhibitory receptor HM43/HM31 APPROVED protein-coding ENSG00000170866 6604 10382 604818 VALIDATED 1350932 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 This gene encodes a member of the leukocyte Ig-like receptor (LIR) family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The LIR family comprises of activating (subfamily A) and inhibitory (subfamily B) cell-surface receptors. The LIR encoded by this gene was shown to be an activating receptor for eosinophils that elicited the release of cytotoxic granule proteins, de novo lipid mediator generation, and cytokine release through vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 q13.4 59777071 59790833 + 55085257 55099027 + 6480464 9548455;19230061;18273033;18056355;17998301;15489334;15342556;15242876;14662864;12529506;12477932;9079806;8977169;8125298;19658091;20237496;20331378;17207965;22479404 11027 A8MZH0;E9PDF4;Q8N149 ABBA01068151;AC009892;AF025531;AF106253;AF106261;AF106269;AF106277;AK130170;AK222651;AK310088;AMYH01009976;BC017412;BC027916;BP296918;CB046242;CH471135;CS173041;CU024913;CU234142;EU915609;EU915610;NM_001130917;NM_006866;U70665;U82275;U82276;U82277;U82278 AAB87665;AAC50928;AAC51175;AAC51176;AAC51177;AAC51178;AAD17990;AAD17991;AAD50364;AAD50365;AAH17412;AAH27916;ACK56075;ACK56076;ADQ32777;BAD96371;CAJ33701;EAW72257;EAW72258;EAW72259;EAW72260;NP_001124389;NP_006857;Q8N149 Hs.655593 1807156;1809242;1809486;1809838;1815162;1815692;1815884;1816286;1816906;1817152;1823252;2042050;2042482;2044658;2044660;2044662;2044664;2044666;2044668;2044670;2044672;2044674;2044676;2044678;2044680;2044682;2044684;2044686;2044688;2044690;2044692;2044694;2044696;2044698;2044700;2044702;2044704;2044706;2044708;2044710;2044712;2044714;2044716;2044718;2044720;2044722;2044724;2044726;2044728;2044730;2044732;2044734;2044736;2044738;2044740;2044742;2044744;2044746;2044748;2044750;2044752;2044754;2044820;2044824;2045378;2104098;2104100;2104102;2108201;5022347 ECD00082;ECD04544;ECD05611;ECD05735;ECD05911;ECD08615;ECD08884;ECD08982;ECD09185;ECD09502;ECD09626;ECD12715;LILRA2_7987;REN92064;REN92287;REN93386;REN93387;REN93388;REN93389;REN93390;REN93392;REN93393;REN93394;REN93395;REN93396;REN93399;REN93400;REN93401;REN93402;REN93403;REN93404;REN93405;REN93406;REN93407;REN93408;REN93409;REN93410;REN93411;REN93412;REN93413;REN93414;REN93415;REN93416;REN93417;REN93418;REN93419;REN93420;REN93421;REN93422;REN93423;REN93424;REN93425;REN93426;REN93427;REN93428;REN93429;REN93430;REN93431;REN93432;REN93433;REN93434;REN93435;REN93436;REN93437;REN93471;REN93473;REN93762;stSG606175;stSG606178;stSG606180 CD85H;ILT1;LIR-7;LIR7 CD85 antigen-like family member H;ILT-1;OTTHUMP00000068394;OTTHUMP00000068395;OTTHUMP00000068396;OTTHUMP00000068397;immunoglobulin-like transcript 1;leukocyte immunoglobulin-like receptor 7;leukocyte immunoglobulin-like receptor subfamily A member 2;leukocyte immunoglobulin-like receptor subfamily A member 2 soluble APPROVED protein-coding ENSG00000239998 6603 11992 604812 VALIDATED 1603958 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 19 19 19 q13.4 52247567 52249770 + 59899918 59902121 + 55208106 55210309 + 10941842;9862332 79167 ABBA01068150;AC011515;AF072102;AMYH01009976;CU041368;CU459007;CU467612;NG_002681 1802366;1803562;1803564;1805660;1805712;2042484;2044684;2045624;2045626;2045628;2045630;2045632;2045634;2045636;2045638;2045640;2045642;2045644;2045646;2045648;2045650;2045652;2045654;2045656;2045658;2045660;2045662;2045664;2104208 ECD02067;ECD02682;ECD02683;ECD03780;ECD03806;REN92288;REN93402;REN93887;REN93888;REN93889;REN93890;REN93891;REN93892;REN93893;REN93894;REN93895;REN93896;REN93897;REN93898;REN93899;REN93900;REN93901;REN93902;REN93903;REN93904;REN93905;REN93906;REN93907;stSG606249 CD85l;ILT9;LILRA6P pseudo 15496 INFERRED 1601849 LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 19 19 19 q13.4 52260314 52265600 + 59911413 59916699 + 55219601 55224887 + 6480464 12477932;10941842;9862332 79166 ABBA01068150;AC006293;AC243962;AF072100;AF072101;AMYH01009976;BC131616;BG744172;CU041368;CU459007;CU467612;NR_003061 AAC99762;AAD03158 Hs.202680 1798556;1798574;1799312;1805052;1805466;2045656;2045726;2045728;2045730;2045732;2045734;2045736;2045738;2045740;2045742;2045744;2045746;2045748;2045750;2045752;2045754;2045756;2045758;2045760;2045762;2045764;2045766;2045768;2045770;2045772;2045774;2104222;2104224;2104226;5096817 ECD00117;ECD00126;ECD00504;ECD02654;ECD03467;ECD03681;REN93903;REN93938;REN93939;REN93940;REN93941;REN93942;REN93943;REN93944;REN93945;REN93946;REN93947;REN93948;REN93949;REN93950;REN93951;REN93952;REN93953;REN93955;REN93956;REN93957;REN93958;REN93959;REN93960;REN93961;REN93962;REN93963;stSG606258;stSG606260;stSG606261 CD85m;ILT10;LILRA5 pseudo 15497 13736 VALIDATED 1316283 LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.4 59411959 59418771 - 54720147 54726959 - 6480464;6907045 9278324;9382880;18802077;17998301;16344560;15242876;12529506;12477932;10941842;9548455;9151699;9079806;8125298;19913121;20628086;19617579;19658091;20631139 11025 B5MCX0;C9JWL8;F8W6G6;F8WD89;O75022 ABBA01068172;ABBA01187998;AC010492;AC012314;AF000575;AF009632;AF009633;AF009634;AF009635;AF009636;AF009637;AF009638;AF009639;AF009640;AF009641;AF009642;AF009643;AF009644;AF025533;AF031553;AF031554;AF031555;AF031556;AF256195;AF344427;AF344434;AF344435;AF344437;AK223265;AK290917;AMYH01009976;BC028153;BC104993;BC112198;CA434108;CU104682;CU151838;CU457734;DA620532;EU814627;EU814628;EU915603;EU915604;EU915605;NM_001081450;NM_006864;U91928;XM_003960767;XM_003960768;XM_003960769;XM_003960770;XM_003960771;XM_003960772;XM_003960773;XM_003960774;XM_003960775 AAB68668;AAB87667;AAB88120;AAC51887;AAC51888;AAC51889;AAC51890;AAC51891;AAC51892;AAC51893;AAC51894;AAC51895;AAC51896;AAC51897;AAC51898;AAC51899;AAC51900;AAC51901;AAC51902;AAC51903;AAI04994;AAI12199;AAP30716;AAQ14933;AAQ14940;AAQ14941;AAQ14943;ACJ26774;ACJ26775;ACK56069;ACK56070;ACK56071;BAD96985;BAF83606;NP_001074919;NP_006855;O75022;XP_003960816;XP_003960817;XP_003960818;XP_003960819;XP_003960820;XP_003960821;XP_003960822;XP_003960823;XP_003960824 Hs.631592;Hs.688335 1799212;1801640;1801918;1802366;1803646;1804064;1806060;1806944;1810028;1811450;1812872;1816122;1820124;1820346;1820664;1821938;1822590;1823514;1823516;1824958;1826586;1827042;1829690;1832210;1834734;1838258;1845338;2041894;2041896;2041898;2041900;2041902;2041904;2041906;2041908;2041910;2041912;2041914;2041916;2041918;2041920;2041922;2041924;2041994;2041996;2041998;2042000;2042006;2042008;2042010;2042014;2042016;2042018;2042020;2042022;2042024;2042058;2042060;2042062;2042064;2042066;2042068;2042070;2042072;2042100;2042188;2042192;2042202;2042236;2042248;2042386;2042392;2042394;2042396;2042398;2042400;2042402;2042404;2042406;2042408;2042410;2042412;2042414;2042416;2042418;2042420;2042422;2042424;2042426;2042428;2042430;2042432;2042434;2042436;2042438;2042442;2042444;2042450;2042452;2042454;2042458;2042466;2042512;2042514;2042516;2042518;2042520;2042522;2042524;2042526;2042528;2042530;2042532;2042534;2042536;2042538;2042540;2042542;2042544;2042546;2042548;2042550;2042552;2042554;2042556;2042558;2042560;2042562;2042564;2042566;2042568;2042570;2042572;2042574;2042576;2042580;2042582;2042584;2042586;2042588;2042590;2042592;2042594;2042596;2042598;2042600;2042602;2042604;2042606;2042608;2042610;2044876;2045164;2045412;2045650;2103712;2103714;2103716;2103718;2103720;2103722;2103724;2103740;2103742;2103748;2103750;2103752;2103754;2103756;2103760;2103762;2103770;2103772;2103774;2103776;2103778;2103780;2103782;2103784;2103786;2103788;2103790;2103792;2103794;2103796;2103810;2103812;2103814;2103816;2103818;2103822;2103826;2103828;2103830;2103832;2103834;2103836;2103838;2103840;2103842;2103844;2103846;2103848;2104122;2219168;5015404;5015621;5037552;5096817;5096925 D11S3732;D8S2279;ECD00454;ECD01699;ECD01840;ECD02067;ECD02654;ECD02729;ECD02949;ECD03983;ECD04437;ECD05567;ECD06006;ECD06724;ECD07449;ECD09101;ECD11135;ECD11248;ECD11407;ECD12055;ECD12383;ECD12848;ECD12849;ECD13578;ECD14407;ECD14636;ECD15977;ECD17243;ECD18515;ECD20303;ECD23886;L17705;LILRB5_2728;REN91984;REN91985;REN91986;REN91987;REN91988;REN91989;REN91990;REN91991;REN91992;REN91993;REN91994;REN91995;REN91996;REN91997;REN91998;REN91999;REN92035;REN92036;REN92037;REN92038;REN92042;REN92043;REN92044;REN92046;REN92047;REN92048;REN92049;REN92050;REN92051;REN92068;REN92069;REN92070;REN92071;REN92072;REN92073;REN92074;REN92075;REN92089;REN92133;REN92135;REN92140;REN92157;REN92163;REN92237;REN92240;REN92241;REN92242;REN92243;REN92244;REN92246;REN92247;REN92248;REN92249;REN92250;REN92251;REN92252;REN92253;REN92254;REN92255;REN92256;REN92257;REN92258;REN92259;REN92260;REN92261;REN92262;REN92263;REN92264;REN92267;REN92268;REN92271;REN92272;REN92273;REN92275;REN92279;REN92302;REN92303;REN92304;REN92305;REN92306;REN92307;REN92308;REN92309;REN92310;REN92311;REN92312;REN92313;REN92314;REN92315;REN92316;REN92317;REN92318;REN92319;REN92320;REN92321;REN92322;REN92323;REN92324;REN92325;REN92326;REN92327;REN92328;REN92329;REN92330;REN92331;REN92332;REN92333;REN92334;REN92336;REN92337;REN92338;REN92339;REN92340;REN92341;REN92342;REN92343;REN92344;REN92345;REN92346;REN92347;REN92348;REN92349;REN92350;REN92351;REN93504;REN93652;REN93779;REN93900;stSG605880;stSG605881;stSG605882;stSG605884;stSG605885;stSG605886;stSG605887;stSG605895;stSG605898;stSG605901;stSG605902;stSG605903;stSG605904;stSG605906;stSG605909;stSG605910;stSG605914;stSG605915;stSG605916;stSG605917;stSG605919;stSG605920;stSG605921;stSG605922;stSG605923;stSG605924;stSG605925;stSG605926;stSG605927;stSG605928;stSG605937;stSG605938;stSG605939;stSG605940;stSG605941;stSG605945;stSG605947;stSG605949;stSG605950;stSG605951;stSG605955;stSG605956;stSG605957;stSG605958;stSG605959;stSG605960;stSG605963;stSG605965;stSG606193 CD85A;HL9;ILT-5;ILT5;LILRA6;LIR-3;LIR3;MGC138403;PIRB CD85 antigen-like family member A;ILT-5;OTTHUMP00000069587;OTTHUMP00000197712;OTTHUMP00000237014;immunoglobulin-like transcript 5;leukocyte immunoglobulin-like receptor 3;leukocyte immunoglobulin-like receptor subfamily B member 3;leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6;monocyte inhibitory receptor HL9 APPROVED protein-coding ENSG00000204577 6607 11995 604820 REVIEWED 1353018 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.4 59469487 59476818 - 54777675 54785033 - 6480464 9382880;9079806;15304001;19535644;19356145;19124746;19010139;18550825;18538388;18439545;17998301;17923119;22660330;17567994;17420263;17400057;17056715;16455647;15670976;15489334;15301858;14662864;12853576;12477932;12390682;11875462;11491530;11169396;10190906;9842885;9548455;9531263;9259559;9151699;8125298;22664025;20448110;20702625;19658091;19860908;21270408;18802077;14971032;21559424;20686565;22593621;22767507;22802125;23018130;23039892;23112154;23238214;21063840;22888216 10288 A2IXV5;A8MU67;C9JF29;H7C0C3;Q8N423 ABBA01068168;AC010518;AF000574;AF004231;AF011565;AF011566;AF025528;AF283986;AF283987;AK226015;AK297041;AK297071;AK298649;AK310263;AMYH01009976;BC025766;BC036827;CH471135;CU104682;CU151838;CU457734;DC429031;DC429053;DQ655938;EU915606;NM_001080978;NM_001278403;NM_001278404;NM_001278405;NM_001278406;NM_005874;NR_103521 AAB67711;AAB87662;AAB88119;AAC51882;AAC51883;AAH36827;AAL36990;AAL36991;ACE87826;ACK56072;ACT64556;BAH12481;BAH12489;BAH12836;EAW72224;NP_001074447;NP_001265332;NP_001265333;NP_001265334;NP_001265335;NP_005865;Q8N423 Hs.655652 1669834;1798650;1799212;1799528;1799580;1816122;1820216;1821858;1822368;1822894;1834212;2041902;2041904;2042110;2042288;2042290;2042292;2042294;2042296;2042298;2042300;2042302;2042304;2042306;2042308;2042310;2042312;2042314;2042316;2042318;2042320;2042322;2042324;2042326;2042328;2042330;2042332;2042334;2042336;2042338;2042340;2042342;2042344;2042346;2042348;2042350;2042352;2042354;2044810;2044812;2045098;2045100;2045150;2045154;2045158;2103794;2103796;2103798;2103800;2103802;2103804;2104116;2104136;2104138;5105018 ECD00165;ECD00454;ECD00616;ECD00642;ECD09101;ECD11182;ECD12015;ECD12272;ECD12535;ECD18254;REN91988;REN91989;REN92094;REN92183;REN92184;REN92185;REN92186;REN92187;REN92188;REN92189;REN92190;REN92191;REN92192;REN92193;REN92194;REN92195;REN92196;REN92197;REN92198;REN92199;REN92200;REN92201;REN92202;REN92205;REN92206;REN92207;REN92208;REN92209;REN92212;REN92213;REN92214;REN92216;REN92217;REN92218;REN92219;REN92220;REN92221;REN93465;REN93466;REN93617;REN93618;REN93644;REN93646;REN93648;WI-15638;stSG605927;stSG605928;stSG605929;stSG605930;stSG605931;stSG605932;stSG605948;stSG606188;stSG606208;stSG606209 CD85D;ILT-4;ILT4;LILRA6;LIR-2;LIR2;MIR-10;MIR10 CD85 antigen-like family member D;ILT-4;Ig-like transcript 4;OTTHUMP00000067358;OTTHUMP00000067462;OTTHUMP00000067463;OTTHUMP00000067464;eukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6;immunoglobulin-like transcript 4;leukocyte immunoglobulin-like receptor 2;leukocyte immunoglobulin-like receptor subfamily B member 2;leukocyte immunoglobulin-like receptor subfamily B member 2 soluble isoform;monocyte/macrophage immunoglobulin-like receptor 10 APPROVED protein-coding ENSG00000131042 6606 11994 604815 REVIEWED 1603957 LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 19 19 q13.4 59432281 59438536 - 54740469 54746724 - 16344560;15489334;15057824;14702039;12477932;10941842;19617579;20331378 79168 B5ME96;D3YTC4;F8WCY4;I6L897;Q6PI73 ABBA01164705;AC010492;AF041262;AF344431;AF344432;AF344436;AF344441;AF344442;AF344443;AF344651;AF344652;AK124026;AMYH01009976;BC041708;DA463849;DA619934;NM_024318;XM_003960782 AAD02204;AAI41550;AAI56795;AAQ14937;AAQ14938;AAQ14942;AAQ14947;AAQ14948;AAQ14949;AAQ14950;AAQ14951;NP_077294;Q6PI73;XP_003960831 Hs.631592;Hs.688335 1801374;1801640;1801918;1803646;1829690;1834734;2042026;2042028;2042030;2042032;2042034;2042036;2042038;2042040;2042042;2042044;2042046;2042048;2042050;2042052;2042054;2042056;2042058;2042060;2045650;2103718;2103720;2103722;2103724;2103742;2103744;2103746;2103748;2103752;2103754;5015619;5016596;5037552;5096817 D11S3114;D8S2279;ECD01559;ECD01699;ECD01840;ECD02654;ECD02729;ECD15977;ECD18515;GDB:631802;REN92052;REN92053;REN92054;REN92055;REN92056;REN92057;REN92058;REN92059;REN92060;REN92061;REN92062;REN92063;REN92064;REN92065;REN92066;REN92067;REN92068;REN92069;REN93900;stSG605884;stSG605885;stSG605886;stSG605887;stSG605898;stSG605899;stSG605900;stSG605901;stSG605903;stSG605904 CD85b;ILT5;ILT8;LILRB3;LILRB6 ILT-8;OTTHUMP00000069599;OTTHUMP00000194981;immunoglobulin-like transcript 5;immunoglobulin-like transcript 8;leukocyte Ig-like receptor;leukocyte immunoglobulin-like receptor subfamily A member 6;leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6 protein-coding 15495 13737 VALIDATED 1347745 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.4 59865936 59871660 + 55174124 55179848 + 6480464 22387553;9151699;9548455;19535644;19380766;19010139;18802077;18486764;18420485;17998301;17993722;17923119;17513794;17266150;17161342;16493035;16433759;16406677;15670976;15489334;12477932;11875462;11491530;10941837;10940079;10781084;9973385;9862332;9422771;9278324;9079806;22664025;21454581;19658091;19833736;19860908;20237496;19561330;22767507;22904259;23018130;23027709;23039892;23607934;23616249;23666960;9786947;23128233 11006 A8MUE1;C9JST2;Q8NHJ6 ABBA01068150;AC011515;AF025532;AF072099;AF189768;AF283988;AK292082;AK309227;AK314783;AMYH01009976;BC026309;BU175229;BX094825;CH471135;CR542048;CU024913;CU459007;CU467612;EU915607;NM_001081438;NM_001278426;NM_001278427;NM_001278428;NM_001278429;NM_001278430;NM_006847;U82979;U91925 AAB68665;AAB87666;AAC51355;AAC99761;AAG02024;AAH26309;AAL36992;ABM83015;ABM86208;ACK56073;BAF84771;CAG46845;EAW72270;EAW72271;EAW72272;NP_001074907;NP_001265355;NP_001265356;NP_001265357;NP_001265358;NP_001265359;NP_006838;Q8NHJ6 Hs.67846;Hs.731841 1804562;1804604;1806064;1806238;1826432;1847937;2045350;2045352;2045354;2045356;2045358;2045360;2045362;2045364;2045366;2045368;2045370;2045372;2045374;2045376;2045378;2045380;2045382;2045384;2045386;2045388;2045390;2045392;2045394;2045396;2045398;2045400;2045402;2045404;2045406;2045408;2045410;2045412;2045414;2045416;2045418;2045420;2045422;2045424;2045426;2045428;2045430;2045432;2045434;2104172;2104174;2104176;2104178;2104180;2104182;2104184 ECD03210;ECD03234;ECD03985;ECD04074;ECD14330;REN93748;REN93749;REN93750;REN93751;REN93752;REN93753;REN93754;REN93755;REN93756;REN93757;REN93758;REN93759;REN93760;REN93761;REN93762;REN93763;REN93764;REN93765;REN93766;REN93767;REN93768;REN93769;REN93770;REN93771;REN93772;REN93773;REN93774;REN93775;REN93776;REN93777;REN93778;REN93779;REN93780;REN93781;REN93782;REN93783;REN93784;REN93785;REN93786;REN93787;REN93788;REN93789;REN93790;RH47724;stSG606227;stSG606228;stSG606229;stSG606230;stSG606231;stSG606232;stSG606234 CD85K;HM18;ILT-3;ILT3;LILRB5;LIR-5;LIR5 CD85 antigen-like family member K;ILT-3;OTTHUMP00000068605;OTTHUMP00000068606;OTTHUMP00000068607;OTTHUMP00000068608;OTTHUMP00000068609;immunoglobulin-like transcript 3;leukocyte immunoglobulin-like receptor 5;leukocyte immunoglobulin-like receptor subfamily B member 4;leukocyte immunoglobulin-like receptor subfamily B member 4 soluble isoform;leukocyte immunoglobulin-like receptor, subfamily B, member 4;monocyte inhibitory receptor HM18 APPROVED protein-coding ENSG00000186818 6608 11996 604821 REVIEWED 6766381 LIMD1-AS1 LIMD1 antisense RNA 1 3 p21.31 45719657 45730374 - 22041458 644714 ABBA01024722;ABBA01024723;AC098476;AK026206;AMYH01013130;BC047037;NR_033947 Hs.712889 1647494;2152513 RH46120;SHGC-76912 APPROVED miscrna 44107 VALIDATED 1349645 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.4 59820441 59840819 + 55128629 55149007 + 6480464 20631139;9285411;15304001;19304799;19136885;18946352;18821690;18802077;18684926;18632577;22623953;18538388;18398485;18094328;17998301;17601702;17400057;17056715;16455647;16344560;16305801;16210603;16014635;15905516;15670976;15585844;15489334;15474475;15100307;14702039;14662864;12897781;12874224;12853576;12847262;12477932;12390682;12130517;11907092;11751964;11491530;11169396;11114384;10941837;10591185;9933109;9842885;9382880;9259559;9079806;8258145;8125298;19913121;20628086;19658091;19841038;20194892;20600445;20139023;20580616;21242521;21233315;21270408;21213105;21092455;21551166;22242197;22844324;21817101;17869268;18550825;19124746;21559424;22028331;22574131;22296096;17567994;22965785;23103378;23228398;23348966;23415844;23476104;23514593;23552990;23666960;23685425;9548455 10859 A8MVE2;C9JPH8;F6TER3;Q8NHL6 ABBA01068150;AC009892;AF009005;AF009006;AF009007;AF009220;AF009221;AF189277;AF283984;AF283985;AK094834;AK223310;AK292028;AK292156;AMYH01009976;BC015731;CH471135;CS540228;CU024913;CU104682;CU234142;CU467612;DA263280;DA953794;DA991480;EU915608;HM135394;HM135401;NM_001081637;NM_001081638;NM_001081639;NM_001278398;NM_001278399;NM_006669;NR_103518;U82279 AAB63521;AAB63522;AAC51179;AAC51879;AAC51880;AAC51881;AAG08984;AAH15731;AAL36988;AAL36989;ABM83156;ABM86357;ACK56074;ADJ55944;ADJ55951;BAD97030;BAF84717;BAF84845;CAM90892;EAW72266;EAW72267;EAW72268;EAW72269;NP_001075106;NP_001075107;NP_001075108;NP_001265327;NP_001265328;NP_006660;Q8NHL6 Hs.667388 1799856;1800796;1807436;1817990;1820216;1821858;1822894;1830660;1835262;1837652;1841614;2042306;2042310;2042312;2042338;2042346;2042348;2042350;2042380;2042382;2042384;2042388;2042390;2044790;2044792;2044982;2044984;2044986;2044988;2044990;2044992;2044994;2044996;2044998;2045000;2045002;2045004;2045006;2045008;2045010;2045012;2045014;2045016;2045018;2045020;2045022;2045024;2045026;2045028;2045030;2045032;2045034;2045036;2045038;2045040;2045042;2045044;2045046;2045048;2045050;2045052;2045054;2045056;2045058;2045060;2045062;2045064;2045066;2045068;2045070;2045072;2045074;2045076;2045078;2045080;2045082;2045084;2045086;2045088;2045090;2045092;2045094;2045096;2045098;2045100;2045102;2045104;2045106;2045108;2045110;2045112;2045114;2045116;2045118;2045120;2045122;2045124;2045126;2045128;2045130;2045132;2045134;2045136;2045138;2045140;2045142;2045144;2045146;2045148;2045150;2045152;2045154;2045156;2045158;2045160;2045162;2045164;2045166;2045168;2045170;2103796;2103804;2103810;2103828;2104130;2104132;2104134;2104136;2104138;2104140;2152694;5022347;5038166;5105018 ECD00082;ECD00782;ECD01260;ECD04689;ECD10050;ECD11182;ECD12015;ECD12535;ECD16466;ECD18786;ECD19993;ECD22004;REN92192;REN92194;REN92195;REN92212;REN92217;REN92218;REN92219;REN92234;REN92235;REN92236;REN92238;REN92239;REN93455;REN93456;REN93557;REN93558;REN93559;REN93560;REN93561;REN93562;REN93563;REN93564;REN93565;REN93566;REN93567;REN93568;REN93569;REN93570;REN93571;REN93572;REN93573;REN93574;REN93575;REN93576;REN93577;REN93578;REN93579;REN93580;REN93581;REN93582;REN93583;REN93584;REN93585;REN93586;REN93587;REN93588;REN93589;REN93590;REN93591;REN93592;REN93593;REN93594;REN93595;REN93596;REN93597;REN93598;REN93599;REN93600;REN93602;REN93603;REN93604;REN93605;REN93606;REN93607;REN93608;REN93609;REN93610;REN93611;REN93613;REN93614;REN93615;REN93616;REN93617;REN93618;REN93619;REN93620;REN93621;REN93622;REN93623;REN93624;REN93625;REN93626;REN93627;REN93628;REN93629;REN93630;REN93631;REN93632;REN93634;REN93635;REN93636;REN93637;REN93638;REN93639;REN93640;REN93641;REN93642;REN93643;REN93644;REN93645;REN93646;REN93647;REN93648;REN93649;REN93650;REN93651;REN93652;REN93653;REN93654;REN93655;RH70709;stSG605928;stSG605932;stSG605937;stSG605948;stSG605949;stSG606204;stSG606205;stSG606206;stSG606208;stSG606209;stSG606211 CD85;CD85J;FLJ37515;ILT-2;ILT2;LIR-1;LIR1;MIR-7;MIR7 CD85 antigen;CD85 antigen-like family member J;ILT-2;Ig-like transcript 2;OTTHUMP00000068384;OTTHUMP00000068385;OTTHUMP00000068386;OTTHUMP00000068387;OTTHUMP00000068408;OTTHUMP00000068409;OTTHUMP00000200114;immunoglobulin-like transcript 2;leukocyte Ig-like receptor-1;leukocyte immunoglobulin-like receptor 1;leukocyte immunoglobulin-like receptor subfamily B member 1;leukocyte immunoglobulin-like receptor subfamily B member 1 soluble isoform;monocyte/macrophage immunoglobulin-like receptor 7 APPROVED protein-coding ENSG00000104972 6605 07273 604811 REVIEWED 1351276 LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 51794937 51801834 - 59446082 59452979 - 54754270 54761167 - 1580863;6480464 9548455;17998301;16335952;15489334;14702039;12477932;8125298;20237496 10990 C9JMK7;O75023 ABBA01068168;AC010492;AF025534;AK057072;AK090399;AK092867;AK096122;AK223296;AK290845;AK301112;AK301338;AMYH01009976;BC025704;CA433575;CH471135;CU104682;CU151838;CU457734;NM_001081442;NM_001081443;NM_006840 AAB87668;AAH25704;ABM85028;BAB71361;BAC03380;BAD97016;BAF83534;BAG62710;BAG62886;EAW72218;EAW72219;EAW72220;EAW72221;EAW72222;NP_001074911;NP_001074912;NP_006831;O75023 Hs.655338 1757303;1805854;1807434;1808174;1808514;1809630;1815412;1821520;1824408;1840532;1845148;2041904;2041908;2042104;2042106;2042108;2042110;2042112;2042114;2042116;2042118;2042120;2042122;2042124;2042126;2042128;2042130;2042132;2042134;2042136;2042138;2042140;2042142;2042144;2042146;2042148;2042150;2042152;2042154;2042156;2042158;2042160;2042162;2042164;2042166;2042168;2042170;2042172;2042174;2042302;2103764;2103766;2103768;2103770;2103772;2103774;2103776;2119064;2174682;2219168;5038166;5096925 A003P13;ECD03879;ECD04688;ECD05068;ECD05239;ECD05567;ECD05807;ECD08742;ECD11846;ECD13302;ECD21453;ECD23791;LILRB5_2728;REN91989;REN91991;REN92091;REN92092;REN92093;REN92094;REN92095;REN92096;REN92097;REN92098;REN92099;REN92100;REN92101;REN92102;REN92103;REN92104;REN92105;REN92106;REN92107;REN92108;REN92109;REN92110;REN92111;REN92112;REN92113;REN92114;REN92115;REN92116;REN92117;REN92118;REN92119;REN92120;REN92121;REN92122;REN92123;REN92124;REN92125;REN92126;REN92190;REN93649;RH46519;SHGC-144707;stSG605911;stSG605912;stSG605913;stSG605914;stSG605915;stSG605916;stSG605917 CD85C;LIR-8;LIR8 CD85 antigen-like family member C;OTTHUMP00000069600;OTTHUMP00000069609;leukocyte immunoglobulin-like receptor 8;leukocyte immunoglobulin-like receptor subfamily B member 5 APPROVED protein-coding ENSG00000105609 6609 11993 604814 REVIEWED 732406 LIMK1 LIM domain kinase 1 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011] 7 7 q11.23 73136092 73174790 + 73498107 73536855 + 6480464 21219645;12361576;15220930;16837009;8537403;10436159;10428028;8689688;19056482;18978953;18566305;18424072;18096821;18028908;18000399;17512523;17294230;17287949;16763828;16611674;16456544;16455074;16381000;16204183;16192283;15897190;15660133;15189451;15023529;14702039;14530263;12963706;12853948;12821664;12777619;12684437;12323073;11925442;11418599;11413130;18079118;11340065;11003705;10652353;10559936;10431247;10196227;9685409;9655398;8980133;8824278;8812460;8673124;8183554;22715593;21868383;21228795;20634891;20694560;17192257;19662944;19734939;19778628;20047470;20061392;20100465;20347121;18029348;20622363;20873970;23086941;21321123;22906279;21682918;16278681;21832049;21923909;17500066;23620575;19322201;22214762;17979178;22939624;23338717;23239465;22883572;17572668;20041213;22632162 3984 C9JCP3;E9PC47;Q9Y5Q1 AB209557;ABBA01063919;ABBA01063920;ABBA01063921;ABBA01063922;AC005056;AC005057;AF134379;AK026544;AK125156;AK290162;AK300382;AMYH01017541;AW016257;CH471200;D26309;DC296332;NG_008129;NM_001204426;NM_002314;U62293;U63721 AAB17545;AAB17546;AAC13885;AAC13886;AAD25742;AAI48341;AAI52983;AAS07436;AAS07437;AAS07438;BAA05371;BAD92794;BAF82851;BAH13274;EAW69620;EAW69621;EAW69622;EAW69623;NP_001191355;NP_002305;P53667 Hs.647035 1647464;1671191;1674274;1789354;1848188;1853265;2106539;2113476;2189271;5014019;5014051;5015619;5015861;5015961;5016478;5016596;5022200;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D15S1477;D5S2354;D7S3015;D8S2278;D8S2279;G67867;GDB:1317606;GDB:1317608;GDB:1317724;GDB:434012;GDB:631802;L18426;LIMK;LIMK1__6396;UniSTS:230793;WI-15627 LIMK;LIMK-1 LIM domain kinase 1;LIM motif-containing protein kinase;LIMK-1;OTTHUMP00000160532;OTTHUMP00000211913;lim motif-containing protein kinase 1 APPROVED protein-coding ENSG00000106683 6613 03210 601329 REVIEWED 1342579 LIM2 lens intrinsic membrane protein 2, 19kDa This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 19 19 q13.4 56574976 56583009 - 51883163 51891210 - 1600309;1580863;6480464;7240710 2584203;18596884;12477932;12107413;12107412;11917274;11532191;8889548;8666393;8197479;8137630;1606837;15968979;21386927;22103961 3982 P55344 ABBA01068274;AC008750;AF305941;AF340019;AF340020;AMYH01009952;BC069430;BC074916;BC074917;BC126139;BU734982;CD675859;CH471135;L04193;NG_012924;NM_001161748;NM_030657 AAG32328;AAH69430;AAH74916;AAH74917;AAI26140;AAK26327;AAK26328;ADR83503;EAW72010;EAW72011;NP_001155220;NP_085915;P55344 Hs.162754 1743803 GDB:373986 CTRCT19;MP17;MP19 MP18;MP20;lens fiber membrane intrinsic protein APPROVED protein-coding ENSG00000105370 6610 01097 154045;615277 REVIEWED 1350726 LIMM lethal infantile mitochonrial myopathy 3986 6615 1604823 LIMCH1 LIM and calponin homology domains 1 4 4 4 p13 41806095 42146075 + 41057561 41395767 + 41362804 41702061 + 6480464 16381901;16344560;15489336;15302935;12477932;11256614;11230166;11076863;10470851;9847074;20379614;21832049;22863883;22939629;19322201;19531213 22998 D6R8Y0;D6RD46;D6RGH8;D6RJ93;E7EPK0;E9PDJ9;G5EA03;H0Y8P3;Q6NVB9;Q6PJ44 AB029025;ABBA01014262;ABBA01014263;ABBA01014264;ABBA01014265;ABBA01014266;ABBA01014267;ABBA01014268;ABBA01014269;ABBA01014270;ABBA01014271;ABBA01014272;ABBA01014273;AC095043;AC105389;AC108050;AC121159;AC124009;AK026815;AK027231;AK294774;AK295784;AK295836;AK298915;AK299297;AK299835;AK302674;AK309846;AL117572;AL831962;AMYH01014132;BC023546;BC029735;BC053639;BC068200;BC095394;BX537916;BX640692;CH471069;CR749205;CR933645;CR936601;CR936610;CR936658;CR936661;CR936664;DA786971;NM_001112717;NM_001112718;NM_001112719;NM_001112720;NM_014988 AAH23546;AAH29735;AAH68200;AAH95394;BAA83054;BAH11880;BAH12187;BAH12196;BAH12902;BAH12994;BAH13142;BAH13776;CAD38604;CAD97899;CAE45816;CAH18063;CAI45946;CAI56749;CAI56754;CAL37479;CAL37959;EAW92984;EAW92985;EAW92986;EAW92987;EAW92988;NP_001106188;NP_001106189;NP_001106190;NP_001106191;NP_055803;Q9UPQ0 Hs.335163 1335119;1338468;1655184;1658224;1662024;1663136;1671753;1696126;1709678;1723689;1755299;1757269;1773596;1788956;1848013;1851364;2117860;2151351;2151367;2163976;2169289;2177788;2178778;5491533 A006X09;D4S2784;D4S2832;D4S2896;D4S2974;D4S3045;D4S496;G65553;MARC_17197-17198:1021387672:3;RH123087;RH35969;RH64846;SHGC-142189;SHGC-144685;SHGC-31042;SHGC-33782;SHGC-50345;SHGC-59485;SHGC-67780;SHGC-68207;SHGC-78966;SHGC-86324;WI-11797;WI-20741 DKFZp434I0312;DKFZp686A01247;DKFZp686B2470;DKFZp686G18243;DKFZp686G2094;DKFZp781C1754;DKFZp781I1455;LIMCH1A;LMO7B;MGC72127 LIM and calponin homology domains-containing protein 1;OTTHUMP00000218521;OTTHUMP00000218522;OTTHUMP00000218523;OTTHUMP00000218525;OTTHUMP00000218526;OTTHUMP00000218527;OTTHUMP00000218529;OTTHUMP00000218530;OTTHUMP00000218531;OTTHUMP00000218616;OTTHUMP00000218618;OTTHUMP00000218619;OTTHUMP00000218620 protein-coding ENSG00000064042 29191 11125 VALIDATED 1603297 LIMD2 LIM domain containing 2 17 17 17 q23.3 56161369 56165639 - 59126981 59131251 - 61773249 61777519 - 6480464 15489334;15203218;14702039;12477932;16751776;16712791;22505724 80774 J3KRR0;J3QL69;J3QQM5;Q9BT23 AA251318;ABBA01035325;ABBA01035326;AC046185;AK092301;AK307353;AK310718;AMYH01008548;AY037154;BC004400;BC025738;BC051812;CB148563;CD632650;CH471109;DQ592947;NM_030576 AAH04400;AAH51812;AAK67634;BAC03855;EAW94291;EAW94292;EAW94293;EAW94294;EAW94295;EAW94296;NP_085053;Q9BT23 Hs.591166 1770483 WI-11047 MGC10986 LIM domain-containing protein 2 protein-coding ENSG00000136490 28142 14407 VALIDATED 1603039 LIME1 Lck interacting transmembrane adaptor 1 LIME1 is a raft-associated transmembrane adaptor phosphoprotein that is preferentially expressed in hemopoietic cells, particularly T cells (Brdickova et al., 2003 [PubMed 14610046]; Hur et al., 2003 [PubMed 14610044]).[supplied by OMIM, Mar 2008] 20 20 20 q13.3 59052243 59054730 + 61838422 61840904 + 62367978 62370460 + 6480464 16249387;16160011;15498874;15489334;15342556;14702039;14610046;14610044;12477932;11780052;22395814;23128233 54923 Q9H400 ABBA01021418;AI763397;AK000413;AK054722;AL121845;AMYH01012090;AY203957;BC017016;BP368475;CH471077;NM_017806 AAH17016;AAP34480;BAA91148;EAW75213;EAW75214;EAW75215;EAW75216;EAW75217;EAW75218;EAW75219;NP_060276;Q9H400 Hs.233220 1675744;1697038 RH101996;RH75350 FLJ20406;LIME;LP8067;RP4-583P15.5;dJ583P15.4 OTTHUMP00000031598;OTTHUMP00000031599;lck-interacting membrane protein;lck-interacting molecule;lck-interacting transmembrane adapter 1 APPROVED protein-coding ENSG00000203896 26016 07904 609809 VALIDATED 1320381 LIMD1 LIM domains containing 1 3 3 p21.3 45611327 45697759 + 45636323 45722755 + 1580863;6480464 18654987;10647888;19060205;18712738;18439753;17889706;15870274;15542589;15489334;15231748;15144186;14702039;12477932;11352561;11158571;21402070;20133701;20226061;21832049;22863883;22939629;22118674;22286099;22190034 8994 C9JRJ5;Q9UGP4 ABBA01024723;ABBA01024724;AC098476;AC099539;AJ132408;AJ297357;AJ312686;AK021508;AMYH01013130;BC027712;BC117236;BC117238;BU428864;CH471055;M80651;NM_014240 AAI17237;AAI17239;ADR83109;CAB63652;CAB95944;CAC35917;EAW64742;NP_055055;Q9UGP4 Hs.193370;Hs.621057 1647494;1693696;1701302;1713721;1713791;1739559;2152513;2184275;5015961;5016781;5022651;5037552;7185900 D11S2921;D15S1477;D3S3457;D8S2279;G15894;RH104280;RH120743;RH120782;RH46120;SHGC-58616;SHGC-67307;SHGC-76912 LIM domain-containing protein 1;OTTHUMP00000164657;OTTHUMP00000210317 protein-coding 6612 05177 604543 VALIDATED 733238 LIMK2 LIM domain kinase 2 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q12.2 29938250 30006066 + 31608250 31676066 + 1580863;1300048;6480464 8537403;8954941;18029348;19369647;18852895;18000399;17294230;16820362;16505165;16455074;16381901;15923181;15489336;15461802;15231748;14702039;12477932;11418599;11340065;11230166;11171090;11076863;15647284;11018042;10613909;10591208;10452946;9655398;8980133;10436159;15660133;22492986;20190821;20047470;20379614;21150874;22328514;23022380;21079653;22623531;22053931;22939624;23082153;23239465;22883572;17572668;20041213;21321123 3985 B5MC51;C9JK61;E7EUC1;P53671 AB016655;AB016656;AB451269;AB451396;ABBA01055325;ABBA01055326;ABBA01055327;AC002073;AK093554;AK291640;AK293774;AK299112;AK302553;AK314391;AL117466;AMYH01012714;BC013051;BU553494;BX385507;CH471095;CR456513;D45906;D85527;NG_029895;NM_001031801;NM_005569;NM_016733 AAB54055;AAB54056;AAH13051;BAA08312;BAA12827;BAA36742;BAF84329;BAG37016;BAG52739;BAG57190;BAG61168;BAG63822;BAG70083;BAG70210;CAB55941;CAG30399;CAK54543;CAK54842;CAL37968;EAW59954;EAW59955;EAW59956;EAW59957;EAW59958;EAW59959;NP_001026971;NP_005560;NP_057952;P53671 Hs.474596 1677174;1691346;1856791;2137910;2148018;2219902 A002I09;D22S666;LIMK2__6397;RH26629;RH27387;WI-22681 LIM domain kinase 2;LIMK-2;OTTHUMP00000199482;OTTHUMP00000199483;OTTHUMP00000199484;OTTHUMP00000199485;lim motif-containing protein kinase 2 APPROVED protein-coding ENSG00000182541 6614 03585 601988 REVIEWED 1602328 LIMA1 LIM domain and actin binding 1 This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011] 12 12 q13 48855838 48963539 - 50569563 50677353 - 6480464;6484113 12566430;10618726;19221476;18796137;18093941;17081983;16565220;16344560;16083285;15592455;15498874;15489334;15342556;15324660;15302935;14702039;12477932;11256614;11230166;10931946;10806352;8125298;18029348;20848180;22990118;21832049;22939629;22194609;15161933;20309963;21625216;22493360;21139048;21890473;21906983;17620599;23106098;23182705;23314748;23188829;20876399;22337587 51474 F8VQE1;F8VRN8;F8VS07;F8VTU2;F8VVQ7;Q59FE8;Q9NXU6 AA772616;AB209512;ABBA01031560;ABBA01031561;ABBA01031562;ABBA01031563;AC008147;AC139016;AF157325;AF198454;AF198455;AF218025;AK000057;AK000335;AK000372;AK023649;AK096172;AK222971;AK297766;AK314447;AL136911;AMYH01004451;BC001247;BC010664;BC110815;BC136763;BC144402;BC144403;BP216703;BP281423;CH471111;DA738195;NG_029859;NM_001113546;NM_001113547;NM_001243775;NM_016357 AAF23755;AAF23756;AAF67491;AAG17267;AAH01247;AAH10664;AAI10816;AAI36764;BAA90914;BAA91092;BAA91120;BAB14625;BAD92749;BAD96691;BAG37056;BAG53224;BAG60114;CAB66845;EAW58134;EAW58135;EAW58136;NP_001107018;NP_001107019;NP_001230704;NP_057441;Q9UHB6 Hs.525419 1336596;1715709;1736200;1767831;1776492;1852482;2107059;2157185;5017170;5037552;5094894 D12S1145E;D12S1620;D12S1908;D8S2279;EPLIN__7599;L29953;LIMA1;RH119301;RH47470;RH48418;UniSTS:51627 EPLIN;FLJ38853;MGC131726;SREBP3 1110021C24Rik;LIM domain and actin-binding protein 1;OTTHUMP00000242284;OTTHUMP00000242285;OTTHUMP00000242286;OTTHUMP00000242380;OTTHUMP00000242381;OTTHUMP00000242382;epithelial protein lost in neoplasm beta;sterol regulatory element binding protein 3 APPROVED protein-coding ENSG00000050405 24636 09755 608364 REVIEWED 3184182 LIN28AP2 lin-28 homolog A (C. elegans) pseudogene 2 13 13 q31.2 68872898 68874116 - 88031721 88032939 - 100287388 ABBA01027278;AL360267;AMYH01005269;NG_022998 pseudo 38056 INFERRED 2805176 LIN28AP1 lin-28 homolog A (C. elegans) pseudogene 1 2 2 2 q32.1 177721440 177722061 + 183832923 183834239 + 184125370 184125991 + 129402 ABBA01062313;AC021851;AMYH01011320;NG_021592 pseudo 38055 INFERRED 3378723 LIN28AP3 lin-28 homolog A (C. elegans) pseudogene 3 20 20 20 p12.2 11659218 11659818 - 11537065 11537938 - 11589098 11589698 - 441940 ABBA01053944;AL109837;AMYH01011712;NG_021975 1671845;2145574 Z94399;Z94674 pseudo 38057 INFERRED 1313937 LIMS1 LIM and senescent cell antigen-like domains 1 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 2 2 q12.3 108571199 108667321 + 109150811 109303702 + 1580863;2300344;6480464 16493410 19074270;7517666;19117955;18957717;18459134;18187956;18063582;17656471;16273248;16189514;15941716;15878342;15815621;15761153;15565145;15489334;14702039;14551191;12794636;12665801;12528177;12477932;12432066;11331308;11078733;10508479;10022929;9843575;12167643;17353931;18436335;20714146;20590912;20927395;10409428;20926685;21426571;10574708;23088713;19952891;21390327;22939629;20689998;14676191;21987572;22199270;21139048;22310984;23455922;18339839;19060904;23000965;22976000;23554879 3987 A8MUY2;C9JF46;F8WB59;F8WC86;F8WE10;P48059 ABBA01000759;ABBA01000760;AC010095;AC012487;AF527759;AF527760;AF527761;AF527762;AF527763;AK025661;AK098109;AK296992;AK302411;AK304260;AK310547;AK314217;AL110164;AMYH01010855;AMYH01010856;BC005341;BC015843;BC022365;BG942518;CH471182;DC401794;HI179074;NM_001193482;NM_001193483;NM_001193484;NM_001193485;NM_001193488;NM_004987;U09284 AAA20086;AAH05341;AAY14983;ABZ92388;BAG36891;BAH12469;BAH13699;BAH14143;CBX53845;EAW53877;EAW53878;EAW53879;EAW53880;NP_001180411;NP_001180412;NP_001180413;NP_001180414;NP_001180417;NP_004978;P48059 Hs.597715;Hs.613268 1675291;1688148;1703652;1719327;1770589;1773300;1857941;2108203;2146844;2183123;5015619;5016294;5016478;5021872;5022383;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D2S2009;D2S2056;D8S2279;ECD04345;GDB:434012;LIMS1_8437;RH123389;RH66261;RH68512;RH70783;RH99316;SHGC-78787;WI-19400;WI-9344;sY3084 PINCH;PINCH-1;PINCH1 LIM and senescent cell antigen-like-containing domain protein 1;OTTHUMP00000161608;OTTHUMP00000203425;OTTHUMP00000203426;OTTHUMP00000203429;OTTHUMP00000203448;PINCH-1;particularly interesting new Cys-His protein 1;renal carcinoma antigen NY-REN-48 APPROVED protein-coding ENSG00000169756 6616 03978 602567 REVIEWED 5131296 LIMS3L LIM and senescent cell antigen-like domains 3-like 2 q13 111203460 111230652 - 12477932;15489334;15815621 100288695 B4DPH6;P0CW19;P0CW20 AA609556;ABBA01006019;AC108938;AC112229;AF288404;AK096170;AK298340;AK300833;AK312178;AK316210;AMYH01010915;BC054477;BC093812;BC112233;BC171890;NM_001205288;NR_038099 AAF99328;AAH93812;AAI12234;AAY24131;BAG35111;BAG60588;BAG62484;BAH14581;NP_001192217;P0CW20 Hs.735995 1688148 RH99316 FLJ59124;MGC120847 LIM and senescent cell antigen-like-containing domain protein 3;LIM and senescent cell antigen-like-containing domain protein 3-like;OTTHUMP00000207222;OTTHUMP00000207223;particularly interesting new Cys-His protein 3 protein-coding 39941 VALIDATED 1350402 LIMS3 LIM and senescent cell antigen-like domains 3 2 2 q13 110013558 110021322 + 110656009 110683202 + 1580863;6480464 15815621;15489334;15342556;12477932;14702039;16341674;17435276 96626 B4DPH6;P0CW19;P0CW20 ABBA01006513;ABBA01143746;AC013271;AC112229;AF288404;AI887629;AK096170;AK298340;AK300833;AK312178;AK316210;BC054477;BC093812;BC112233;BC171890;BM830478;BP320581;BQ013290;BX108353;CF994716;NM_033514;NR_027467 AAF99328;AAH93812;AAI12234;AAY14903;BAG35111;BAG60588;BAG62484;BAH14581;NP_277049;P0CW19 Hs.535619 1680595;5016294 RH70783;RH98188 FLJ38851;FLJ59126;FLJ79109;MGC138438;PINCH-3 LIM and senescent cell antigen-like-containing domain protein 3;OTTHUMP00000161843;PINCH-3;particularly interesting new Cys-His protein 3;pinch 2 protein-coding ENSG00000256977 30047 17277 VALIDATED 1313204 LIMS2 LIM and senescent cell antigen-like domains 2 This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 2 q14.3 121706938 121750307 - 128112471 128138590 - 128395996 128439360 - 1580863;2300344;6480464 16493410 16959213;16344560;15489334;15342556;14702039;12477932;12167643;11331308;15231748;20237496;20500520;23535033;21832049 55679 B3KNZ3;F8WEF3;H0Y592;Q9HA13 ABBA01040199;ABBA01040200;ABBA01040201;AC010976;AC074114;AF484961;AF520987;AF527764;AF527765;AF527766;AF527767;AF527768;AF527769;AF527770;AK000906;AK022470;AK055363;AK091652;AK093692;AK094954;AK095790;AK123014;AK297645;AL512716;AMYH01011019;AMYH01011020;BC001370;BC008977;BC065816;BP221000;BX458594;CA439343;CH471103;DA848179;DA890151;DC356496;DR006887;NM_001136037;NM_001161403;NM_001161404;NM_001256542;NM_017980 AAH01370;AAH08977;AAH65816;AAM77350;AAM97589;AAQ09011;AAQ09012;AAQ09013;AAQ09014;AAQ09015;AAQ09016;AAQ09017;AAX93074;BAA91419;BAB14047;BAG51505;BAG60013;CAC21657;EAW95327;EAW95328;EAW95329;EAW95330;EAW95331;EAW95332;EAW95333;EAW95334;EAW95335;EAW95336;NP_001129509;NP_001154875;NP_001154876;NP_001243471;NP_060450;Q7Z4I7 Hs.469881 1657497;1665515;1680184;1709056;2119539;2150421;2181774;2184866 A008U17;RH65992;RH68397;RH70603;RH78384;SHGC-24307;SHGC-85672;WI-13493 FLJ10044;PINCH-2;PINCH2 ILK-binding protein;LIM and senescent cell antigen-like-containing domain protein 2;LIM-like protein 2;OTTHUMP00000162264;OTTHUMP00000203848;OTTHUMP00000203850;OTTHUMP00000203851;OTTHUMP00000203852;OTTHUMP00000203853;OTTHUMP00000203855;OTTHUMP00000203866;OTTHUMP00000205983;PINCH-2;particularly interesting new Cys-His protein 2 APPROVED protein-coding ENSG00000072163 16084 607908 VALIDATED 1316876 LIN28A lin-28 homolog A (C. elegans) 1 1 p36.11 26609856 26628806 + 26737269 26756219 + 1580863;6480464 19483683;19153603;18550544;16710414;16227573;15722555;15614775;15489334;15003116;14702039;14688391;12798299;12477932;17617744;18951094;19038789;19578360;19703396;19878981;19966271;20101213;21045151;20947512;22296229;18604195;21425412;22689537;22935707;21057460;22808086;23255092;23079661;22263265;21979467;22162396;21815640;21553022;21912531;21631526;22118463;22467868;22157959;21417895;22034885;22210895;22433967;22388813;22081076;22532168;22545159;20881960;23292830;23307247;22240064;22429493;22959275;23161096;23500413;23481595;22898984;22713243 79727 Q9H9Z2 ABBA01034908;ABBA01034909;ABBA01034910;AF521099;AK022519;AL513365;AMYH01000401;BC028566;CH471059;NM_024674 AAH28566;AAM77751;ABM84324;ABM87718;BAB14075;EAX07814;EAX07815;NP_078950;Q9H9Z2 Hs.86154 1650999;1685421;2145574;5014023;5015619;5015861;5037552;7185938 D10S16;D11S1085;D11S3114;D13S1553;D8S2279;RH66756;Z94399 CSDD1;FLJ12457;LIN-28;LIN28;ZCCHC1;lin-28A OTTHUMP00000003663;RNA-binding protein LIN-28;lin-28A;protein lin-28 homolog A;zinc finger CCHC domain-containing protein 1;zinc finger, CCHC domain containing 1 APPROVED protein-coding ENSG00000131914 15986 17278 611043 VALIDATED 1604919 LIN28B lin-28 homolog B (C. elegans) The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012] 6 6 q21 105511616 105637899 + 105404923 105531207 + 6480464 21512136;19483683;19266077;19211792;18391951;18391950;16971064;14702039;12477932;20827722;19448620;19448621;19448622;19448623;19495417;19615732;19703396;19745602;20303062;20350940;20398887;20525879;21102462;20846217;20962026;20546612;23063642;22822098;22941191;21533284;21625210;18029348;22118463;22964795;23152804;22263265;22976955;23042116;22433967;20881960;21145461;23449627;23052130 389421 Q6ZN17 ABBA01014401;ABBA01014402;ABBA01014403;AK131411;AL135911;AMYH01016559;AW674597;BC127712;BC127713;BC137526;BC137527;BC141959;BC141960;BC150537;BC150538;CH471051;DQ127228;NG_032815;NM_001004317;Z95329 AAI27713;AAI27714;AAI37527;AAI37528;AAI41961;AAI50538;AAI50539;AAZ38897;BAD18558;EAW48433;EAW48434;NP_001004317;Q6ZN17 Hs.23616 1694256;1706758;1716785;2137409;2150278 AL008739;D6S2097;RH121687;SHGC-58271;SHGC-80846 CSDD2;FLJ16517 Lin-28.2;OTTHUMP00000016909;lin-28B;protein lin-28 homolog B APPROVED protein-coding ENSG00000187772 32207 13366 611044 REVIEWED 1603391 LIN37 lin-37 homolog (C. elegans) This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 32952989 32958898 + 40931352 40937260 + 36239262 36245420 + 6480464 16189514;15489334;15057824;12477932;15479636;17207965;16712791;17531812;19471022;20360068;21693764;21890473;17671431 55957 K7EK99;K7ELP2;K7EMT7;K7EMY4;M0QYM3;Q96GY3 ABBA01018763;AC002398;AD000671;AF162447;AK293116;AK301992;AMYH01009732;BC009071;BI767008;CB152701;DC396639;NM_019104 AAB81199;AAH09071;AAQ13584;ADQ31598;BAF85805;BAG63398;NP_061977;Q96GY3 Hs.529100 1680268;1693526;1847945;2166206 D19S615E;RH78604;RH91910;SHGC-58724 F25965;MGC9505;ZK418.4;lin-37 antolefinin;protein F25965;protein lin-37 homolog APPROVED protein-coding ENSG00000267796 33234 16872 VALIDATED 6769426 LINC-ROR long intergenic non-protein coding RNA, regulator of reprogramming 18 q21.31 54721802 54739350 - 21057500;23541921;23597480;23208419 100885779 ABBA01056127;AC100775;AMYH01009021;HQ315778;NR_048536 Hs.742426 lincRNA-RoR miscrna ENSG00000258609 43773 615173 PROVISIONAL 1350309 LINC00028 long intergenic non-protein coding RNA 28 20 20 20 q11.21 26829771 26831559 + 30073581 30075377 + 30073581 30075377 + 140875 ABBA01019309;AI675392;AL121751;AMYH01011829;BX280465;NR_024358 Hs.283478 1689069 RH91899 C20orf93;NCRNA00028;dJ1093G12.6 APPROVED miscrna ENSG00000233354 16224 VALIDATED 731642 LIN7A lin-7 homolog A (C. elegans) 12 12 q21 79715302 79855825 - 81191171 81331694 - 1580863;6480464 11311936;9753324;9482110;18286632;17237226;16192278;15494546;15024025;14960569;14596909;12477932;12110687;10753959;10341223;10228153;9822620;14722086;16688213;19615732;20379614;16855024;21832049;23259602;22053931 8825 H0YI92;H0YIA8;J3KN23;O14910 ABBA01053490;ABBA01053491;AC025568;AC068798;AC078886;AF028826;AF087693;AF173081;AK309256;AK315321;AMYH01004612;AMYH01004613;AMYH01004614;BC046926;BC062332;BC099921;BC118609;BC122561;CH471054;CR407680;NM_004664 AAB84251;AAC78481;AAD48500;AAH99921;AAI18610;AAI22562;BAG37724;CAG28608;EAW97370;EAW97371;NP_004655;O14910 Hs.144333 1669776;1686428;1709378;1722387;1726393;1755409;2109469;5118085 G60266;G62497;G64269;LIN7A_8861;RH46592;RH66117;SHGC-142287;SHGC-81706 LIN-7A;LIN7;MALS-1;MGC148143;TIP-33;VELI1 OTTHUMP00000243111;hLin-7;lin-7-ba;mammalian LIN-7 1;mammalian lin-seven protein 1;protein lin-7 homolog A;tax interaction protein 33;veli-1;vertebrate LIN7 homolog 1;vertebrate lin-7 homolog 1 protein-coding 17787 04542 603380 VALIDATED 734321 LIN7B lin-7 homolog B (C. elegans) 19 19 19 q13.3 46484840 46488937 + 54309430 54313529 + 49617618 49621717 + 1580863;6480464 14960569;16192269;18286632;16979770;16473877;16192277;15317815;15024025;14596909;12975309;12477932;12151522;11742811;10341223;9753324;20720508;17237226 64130 M0R2U1;Q9HAP6 ABBA01032941;AC008687;AF311862;AMYH01009909;AY358744;BC027618;CH471177;NM_022165 AAG34117;AAH27618;AAQ89104;EAW52454;EAW52455;NP_071448;Q9HAP6 Hs.221737 LIN-7B;MALS-2;MALS2;VELI2 OTTHUMP00000165836;OTTHUMP00000165837;hLin7B;hVeli2;lin-7-a;mammalian lin-seven protein 2;protein lin-7 homolog B;veli-2;vertebrate lin-7 homolog 2 protein-coding ENSG00000104863 17788 10040 612331 VALIDATED 1606970 LIN54 lin-54 homolog (C. elegans) LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010] 4 4 4 q21.22 81136312 81224592 - 84065151 84151006 - 83845756 83934040 - 6480464 12477932;15479636;19725879;20379614;22895175;19471022;21693764;17531812;20360068;19322201;17671431 132660 D6REW4;Q6MZP7;Q7Z3G2 AB111889;ABBA01063449;ABBA01063450;ABBA01063451;ABBA01063452;AC021105;AK292769;AK294256;AK299787;AMYH01014357;BC109277;BC109278;BX537919;BX640657;BX640966;CH471057;CX871759;NM_001115007;NM_001115008;NM_194282 AAI09278;AAI09279;ACE86510;ACE86511;ACE87191;ACE87192;BAC98377;BAF85458;BAG57551;BAG61668;CAD97902;CAE45799;CAE45981;EAX05917;EAX05918;EAX05919;EAX05920;NP_001108479;NP_001108480;NP_919258;Q6MZP7 Hs.96952 5015619;5037552 D11S3114;D8S2279 CXCDC1;DKFZp686L1814;JC8.6;MGC129905;MIP120 CXC domain containing 1;CXC domain-containing protein 1;OTTHUMP00000160794;OTTHUMP00000219378;OTTHUMP00000219379;OTTHUMP00000219380;OTTHUMP00000219382;OTTHUMP00000219384;protein lin-54 homolog APPROVED protein-coding ENSG00000189308 25397 13218 613367 VALIDATED 1349797 LINC00032 long intergenic non-protein coding RNA 32 9 9 9 p21 27173838 27210938 - 27245682 27282791 - 27245682 27282791 - 17099875 158035 P0C843 ABBA01065130;AF418573;AF507953;AL133411;AMYH01019295;NR_026679 P0C843 Hs.201554 1727795 G63163 C9orf14;NCRNA00032 APPROVED miscrna ENSG00000231459 16506 PREDICTED 1315617 LIN52 lin-52 homolog (C. elegans) 14 14 14 q24.3 54588612 54704404 + 73621252 73735491 + 74551656 74667117 + 6480464 18029348;17081983;17075059;15489334;14702039;12477932;17671431;20379614;20585627;17531812;20360068;21498571 91750 B3KN83;G3V5T8;Q52LA3 ABBA01030727;ABBA01030728;ABBA01030729;ABBA01030730;ABBA01030731;ABBA01030732;AC005484;AC006349;AK023979;AK055422;AK307062;AMYH01005851;BC009539;BC094003;BC094005;CH471061;NM_001024674 AAH94003;AAH94005;BAG51245;EAW81161;NP_001019845;Q52LA3 Hs.612866 1335152;1645807;1658821;1661746;1740685;1740687;1740701;1771283;1774740;2125934;2129361;2139581;2141775;2153499;2167845;5015961;5022200;5022450;5022578;5022651;5037552;7185495 D10S275;D11S2921;D14S1176;D14S1177;D14S1180;D14S71;D14S913;D15S1477;D1S1423;D8S2279;G35617;G35650;G35687;G35947;G36069;G38079;G38085;G38293;L18426;RH66518;WI-17063 C14orf46;c14_5549 OTTHUMP00000245434;OTTHUMP00000245435;chromosome 14 open reading frame 46;protein lin-52 homolog protein-coding 19856 18708 VALIDATED 1351750 LINC00029 long intergenic non-protein coding RNA 29 20 20 q13.33 58342168 58344979 - 61665569 61668380 - 12477932;11780052;11181995;22219177 100144596 AA609342;ABBA01021379;AL117533;AL121673;AMYH01012070;BC069708;BC134343;CH471077;NR_028295 EAW75309;EAW75310 Hs.187773 C20orf51;DKFZp434E222;MGC133148;NCRNA00029;bA305P22.4 APPROVED miscrna 16184 PREDICTED 2301114 LINC00087 long intergenic non-protein coding RNA 87 X X X q26.3 134615832 134619550 - 134056681 134060399 - 134229015 134232733 - 6480464 644596 ABBA01042522;AK123302;AL590325;AMYH01022997;NR_024493 Hs.656427 FLJ41308;NCRNA00087 APPROVED miscrna ENSG00000196972 34500 VALIDATED 735828 LIN7C lin-7 homolog C (C. elegans) 11 11 p14 27472699 27484879 - 27515965 27528326 - 1580863;6480464 18543122;18286632;17942893;17237226;16192275;16147993;15024025;14960569;14702039;14596909;12477932;12006486;10341223;8125298;16344560;19615732;20215397;20702775;17987659;21139048;21890473;21906983;19322201;17110338;22504420;23000965;22053931 55327 G3V1D4;Q9NUP9 ABBA01060970;AC100771;AF090900;AK002077;AK025540;AK223156;AL833601;AMYH01003456;BC009774;BC039459;BC053907;CH471064;DA231006;NM_018362 AAF24024;AAH53907;BAA92072;BAD96876;EAW68282;EAW68283;NP_060832;Q9NUP9 Hs.91393 1647358;1846909;2132137;2143440;5037552 A006U38;D11S1220;D11S4549;D8S2279;WI-17417 FLJ11215;LIN-7-C;LIN-7C;MALS-3;MALS3;VELI3 LIN-7 protein 3;OTTHUMP00000232136;OTTHUMP00000232137;lin-7-c;mammalian lin-seven protein 3;protein lin-7 homolog C;veli-3;vertebrate lin-7 homolog 3 protein-coding ENSG00000148943 17789 17279 612332 VALIDATED 2300350 LINC00092 long intergenic non-protein coding RNA 92 9 9 q22.32 69223629 69225652 - 98782014 98784037 - 100188953 ABBA01043601;AL159167;AMYH01021542;BC043559;NR_024129 Hs.434310 1675255;5022578 D1S1423;SGC31721 NCRNA00092;bA346B7.1 APPROVED miscrna ENSG00000225194 31408 PREDICTED 3497317 LINC00102 long intergenic non-protein coding RNA 102 X;Y p22.33 and Yp11.31 2481032 2483388 - 100359394 ABBA01038606;AC097314;AMYH01022013;BC034825;NR_037842 Hs.571720 NCRNA00102 APPROVED miscrna ENSG00000230542 30470 VALIDATED 1603233 LINC00106 long intergenic non-protein coding RNA 106 p22.33; Yp11.32 8889549;8048971 751580 D29222;H65775;H65776;R00579 Hs.495569 CXYorf8;NCRNA00106 APPROVED miscrna 31843 1605742 LINC00108 long intergenic non-protein coding RNA 108 X;Y X;Y p22.33;Yp11.32 110310 112812 + 170411 172713 + 677739 ABBA01005326;AL954722;AMYH01021950;NG_005526 CXYorf11;NCRNA00108 APPROVED pseudo 31847 INFERRED 1353518 LINC00111 long intergenic non-protein coding RNA 111 21 21 q22.3 28249282 28267294 + 43099462 43117496 + 10830953 54090 ABBA01012805;ABBA01012806;AMYH01012263;AP001614;AP001615;BX099637;NR_024367 Hs.570442 1790641;2160384 D21S1426;STS_CEB272 C21orf21;NCRNA00111 APPROVED miscrna 1262 VALIDATED 1344622 LINC00112 long intergenic non-protein coding RNA 112 21 21 q22.3 28286392 28287538 + 43136596 43137742 + 11707072;10830953 54089 AA417025;ABBA01012805;AMYH01012263;AP001615;AY040089;NR_024028 Hs.98186 1680188 RH98449 C21orf22;NCRNA00112 APPROVED miscrna ENSG00000232401 1263 VALIDATED 1602380 LINC00051 long intergenic non-protein coding RNA 51 8 8 q24.3 139587706 139596282 + 143279717 143290364 + 12477932 619434 ABBA01029395;AC103758;AMYH01019081;BC008253;NR_024378 Hs.393308 C8orf43;NCRNA00051 APPROVED miscrna ENSG00000254008 32028 PREDICTED 1345802 LINC00113 long intergenic non-protein coding RNA 113 21 21 q21.3 14277973 14306827 + 29094698 29123552 + 10830953 54088 ABBA01057231;ABBA01057232;AI261615;AI793052;AMYH01012183;AP001608;BF434914;NR_024357 Hs.570434 1334615 D21S1915 C21orf23;NCRNA00113 APPROVED miscrna ENSG00000225298 1264 VALIDATED 1349082 LINC00114 long intergenic non-protein coding RNA 114 21 21 21 q22.2 25308613 25343145 - 39045849 39046271 - 40110879 40145401 - 14693372;10830953 400866 Q6XXX2 ABBA01011090;AMYH01012240;AP001038;AP001039;AY204744;AY204745;AY204746;AY204747;AY204748;AY204749;AY204750;BF002570;NR_027065;NR_027066;NR_027067 AAP41721;AAP41722;Q6XXX2 Hs.278704 2119317;5022651;5109281 D11S2921;D1S1425;G29030 C21orf24;NCRNA00114 APPROVED miscrna ENSG00000223806 1265 10744 611723 PREDICTED 2303659 LINC00052 long intergenic non-protein coding RNA 52 15 15 15 q25.3 64520964 64523721 + 85922339 85922629 + 88120160 88122917 + 6480464 14702039;12477932 145978 Q96N35 ABBA01052990;AC020687;AK056023;AMYH01006902;BC066551;CH471101;CS223363;NR_026869 BAB71075;CAJ46921;EAX01986;Q96N35 Hs.350808 5493217 UniSTS:485342 FLJ31461;NCRNA00052;TMEM83 APPROVED miscrna ENSG00000259527 26455 08101 VALIDATED 2301581 LINC00085 long intergenic non-protein coding RNA 85 19 19 19 q13.41 49246128 49257979 + 56888592 56900255 + 52196593 52208443 + 6480464 14702039;12975309;12477932 147650 ABBA01068265;AC018755;AK024362;AMYH01009953;AY358799;BC041134;BC104208;BC104209;CH471135;NR_024330 AAI04209;AAQ89159;EAW72035;EAW72036;EAW72037 Hs.467174 2123411;5493641 RH48555;UniSTS:490085 MGC125919;MGC125920;NCRNA00085;SPACA6 APPROVED miscrna ENSG00000182310 27113 17301 VALIDATED 1605492 LINC00086 long intergenic non-protein coding RNA 86 X X X q26.3 134939821 134944178 + 134383490 134388119 + 134555868 134560225 + 15146197;12477932;12107410 399668 ABBA01050067;ABBA01050068;AL450472;AMYH01023015;BC030620;BC051704;CA389121;CN430413;DR001138;NR_024359 Hs.374414 MGC39606;NCRNA00086 APPROVED miscrna ENSG00000178947 34499 14610 VALIDATED 1346338 LINC00159 long intergenic non-protein coding RNA 159 21 q22.11 33452794 33458608 - 11329013 100551499 ABBA01057308;AMYH01012198;AP000263;BG210590;NR_038033 Hs.224449 1653057 D21S1243 C21orf44;NCRNA00159 APPROVED miscrna 1285 PREDICTED 1342962 LINC00160 long intergenic non-protein coding RNA 160 21 21 q22.12 21295678 21309053 + 36096105 36109479 - 10830953 54064 ABBA01057369;AI761253;AMYH01012216;AP000330;BF511060;BX110236;NR_024351 Hs.436868 1713115 RH120345 C21orf52;NCRNA00160 APPROVED miscrna ENSG00000230978 1294 VALIDATED 1641971 LINC00163 long intergenic non-protein coding RNA 163 21 21 q22.3 31516360 31520620 - 46409779 46414001 - 16826516 727699 ABBA01074180;ABBA01074181;AMYH01012302;AP001505;BC036902;BC046564;NR_033840 Hs.397403 C21orf134;NCRNA00163;NLC1-A;NLC1A APPROVED miscrna ENSG00000234880 33165 610259 VALIDATED 1353252 LINC00158 long intergenic non-protein coding RNA 158 21 21 21 q21.3 11941791 11987671 - 25680010 25725884 - 26758133 26804013 - 11707072;10830953 54072 P58513 AA437209;ABBA01057209;AMYH01012174;AP000220;AP001348;AY035382;AY035383;CH471079;NR_024027 AAK60446;AAK60447;EAX09985;P58513 Hs.234016 1679654;1725407;1729628;1730602;5492775;7186300 D21S221;D21S289;RH119021;RH92613;UniSTS:482452 C21orf42;NCRNA00158 APPROVED miscrna ENSG00000185433 1283 10748 VALIDATED 1348970 LIN9 lin-9 homolog (C. elegans) This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 1 1 1 q42.12 199609841 199688109 - 224485484 224563821 - 226418850 226497449 - 6480464 17563750;17159899;17098733;17081983;16730350;15538385;15489334;14702039;12477932;15479636;18029348;20360844;20379614;17531812;20360068;18548008;23381944;11076766;17618148;17671431;19619530;20101237;21480327;21498570;22037783;22391450;21860417;21139048;21890473 286826 B1B047;C9J5J4;H0Y322;H7C4T7;Q5TKA1;Q6P142 ABBA01009641;ABBA01009642;AF190323;AF190324;AK125690;AK126177;AK308823;AL359742;AMYH01001778;AMYH01001779;AY166858;AY166859;AY786184;BC043444;BC045625;BC065302;BX284931;BX537869;CH471098;NM_001270409;NM_001270410;NM_173083 AAH43444;AAH45625;AAH65302;AAN87840;AAN87841;AAQ13710;AAQ13711;AAV41873;BAC86475;CAD97871;EAW69780;EAW69781;EAW69782;NP_001257338;NP_001257339;NP_775106;Q5TKA1 Hs.120817 1698434 RH102762 BARA;BARPsv;Lin-9;TGS;TGS1;TGS2 OTTHUMP00000035665;OTTHUMP00000035666;OTTHUMP00000216685;OTTHUMP00000216686;TUDOR gene similar protein;beta subunit-associated regulator of apoptosis;hLin-9;huLin-9;pRB-associated protein;protein lin-9 homolog;rb related pathway actor;type I interferon receptor beta chain-associated protein APPROVED protein-coding ENSG00000183814 30830 13990 609375 REVIEWED 2301593 LINC00115 long intergenic non-protein coding RNA 115 1 1 p36.33 751449 752775 - 761586 762902 - 6480464 12477932 79854 Q9H632 ABBA01016000;AK026292;AL669831;AMYH01000099;BC017762;NR_024321 BAB15434 Hs.351445 FLJ22639;NCRNA00115 APPROVED miscrna ENSG00000225880 26211 08000 VALIDATED 2303856 LINC00116 long intergenic non-protein coding RNA 116 2 2 2 q13 104826911 104838322 + 110327155 110329743 - 110969106 110980517 - 12477932 205251 Q8NCU8 ABBA01015966;AC092664;AC140479;AF504645;AMYH01010915;BC031315;BC064430;BC133660;CH878608;NR_027063 AAM28196;EAW50629;Q8NCU8 Hs.128499 1336245 D8S530 NCRNA00116 APPROVED miscrna 27339 14131 PREDICTED 2300360 LINC00094 long intergenic non-protein coding RNA 94 9 9 9 q34 107438790 107444948 + 135884078 135884614 + 136890561 136896719 + 6480464 14702039;12477932;16751776 266655 ABBA01021990;AK092667;AL445931;AMYH01021816;AY203934;BC053543;BC065204;BC094875;BC108326;BI550746;DQ584426;DQ587601;NR_015427 Hs.654869 1647189;1647191;1738357;1738359;1856076;2122954;2132497;2132499;2140484;2151781;2156150;2157493;5020274 A001Y18;A006H47;A008W26;D11S4285;D9S1018E;D9S1341;D9S1342;D9S2096;G19779;G20827;L18441;RH12035;STS-W74619 FLJ35348;LP2477;NCRNA00094;bA374P20.3 APPROVED miscrna 24742 VALIDATED 2837599 LINC00165 long intergenic non-protein coding RNA 165 q22.3 12477932;16826516 727701 BC009635 Hs.382029 C21orf135;NCRNA00165;NLC1-B;NLC1B APPROVED miscrna 33166 2312698 LINC00184 long intergenic non-protein coding RNA 184 1 1 q42.3 208035294 208040763 + 234765057 234770526 + 100302691 ABBA01033104;AJ421679;AL160408;AMYH01001836;BU950959;CK818308;NR_033927 Hs.209162 HANC;NCRNA00184 APPROVED miscrna ENSG00000224939 37192 VALIDATED 1602308 LINC00152 long intergenic non-protein coding RNA 152 2 2 2 p11.2 105885595 105885908 + 87601889 87602147 + 87754974 87821037 + 6480464 12477932;8889548;22689435;23801869 112597 AC068491;AC133644;AK312010;AMYH01010560;AMYH01010561;BC009508;BC010491;BC070202;BC073906;BM989746;CF129206;CH878354;DW440910;ES312964;NR_024204;NR_024205;NR_024206 AAY24009;AAY24059;BAG34948;EAW50475 Hs.652166 1679115;1721475;1756075;1783934;2147369;2168105 G59591;RH44348;RH99136;SHGC-111923;SHGC-142874;WIAF-2173 C2orf59;MGC17532;MGC4677;MGC88182;NCRNA00152 APPROVED miscrna ENSG00000222041 28717 14654 VALIDATED 1603346 LINC00176 long intergenic non-protein coding RNA 176 20 20 20 q13.33 59351802 59357420 + 62139937 62141575 + 62665697 62671315 + 6480464 16344560;14702039 284739 Q6ZNR8 ABBA01021438;AK130777;AK310631;AL157500;AL355803;AMYH01012096;BC033342;DA111479;NR_027686;NR_027687 BAC85427;Q6ZNR8 Hs.97840 5493575 UniSTS:487282 DKFZp434G015;FLJ17673;FLJ27267;NCRNA00176;PRR17 APPROVED miscrna ENSG00000196421 27655 17341 VALIDATED 2301591 LINC00167 long intergenic non-protein coding RNA 167 11 11 11 q24.3 127040672 127043534 + 129377729 129378602 + 129872519 129875381 + 14702039;12477932 440072 Q96N53 ABBA01023024;AK055956;AMYH01004125;AP003041;BC137306;BC137307;NR_024233 BAB71056;Q96N53 Hs.630600 5015961 D15S1477 C11orf37;FLJ31394;MGC168926;MGC168927;NCRNA00167 APPROVED miscrna 30468 16931 VALIDATED 1345113 LINC00161 long intergenic non-protein coding RNA 161 21 21 21 q21.3 15094933 15095970 + 28833511 28834548 + 29911640 29912677 + 6480464 15489334;12477932;12036297 118421 P59043 ABBA01057240;AF165147;AMYH01012184;AY063458;AY063459;BC101414;BC101416;BC101419;BC101420;CH471079;NR_026552;NR_026553 AAL60598;AAL60599;EAX09942;EAX09943;P59043 Hs.438549 2220656 UniSTS:487166 C21orf100;MGC125397;MGC125398;MGC125399;MGC125400;NCRNA00161 APPROVED miscrna ENSG00000226935 17138 10733 VALIDATED 7205184 LINC00202-2 long intergenic non-protein coding RNA 202-2 10 p12.1 26932037 26942383 + 16344560 731789 ABBA01034414;AL390961;AMYH01002201;BX105108;CR749234;DB068553;NR_026794 CAH18090 Hs.178186 1663898 WI-11372 miscrna ENSG00000231976 44917 VALIDATED 1346760 LINC00208 long intergenic non-protein coding RNA 208 8 p23.1 11434044 11438850 + 11896452 83655 Q96KT6 ABBA01026878;AC022239;AJ291678;AMYH01018481;NR_040035 CAC82745;Q96KT6 Hs.742430 C8orf14;NCRNA00208;VIR35 APPROVED miscrna ENSG00000170983 15535 VALIDATED 6769429 LINC00210 long intergenic non-protein coding RNA 210 1 q41 218066242 218094146 + 100885798 ABBA01048107;ABBA01048108;ABBA01048109;AL357975;AL445428;AL591414;AMYH01001732;BC040896;NR_048550 Hs.434632 NCRNA00210 miscrna ENSG00000231814 37458 VALIDATED 6481424 LINC00211 long intergenic non-protein coding RNA 211 100873959 AC010878 NCRNA00211 miscrna 37459 4892547 LINC00216 long intergenic non-protein coding RNA 216 q22.3 55451 AF116641;CH471061 AAF71064;EAW80726 C14orf107;NCRNA00216;PRO1617 APPROVED miscrna 20191 1343544 LINC00221 long intergenic non-protein coding RNA 221 14 14 q32.33 86876334 86889394 + 106938455 106951529 + 9841928;11181995 338005 Q86TR5 AB019438;ABBA01040616;AK058096;AMYH01006101;BX161407;BX248748;CH471061;DB461309;NG_001019;NR_027457 CAD61886;CAD66555;EAW82003 Hs.322826 1752313 SHGC-106213 C14orf98;FLJ25367;NCRNA00221 chromosome 14 open reading frame 98 APPROVED miscrna ENSG00000187156 20169 VALIDATED 1351430 LINC00222 long intergenic non-protein coding RNA 222 6 6 q21 109818761 109837047 + 109072857 109091145 + 15790807;15998911 387111 ABBA01026142;AMYH01016580;AY927443;AY927444;AY927445;AY927446;AY927447;AY927448;AY927449;NR_033376;Z95118 Hs.520310 2183567 D6S1254 C6orf181;NCRNA00222;dJ354J5.2 APPROVED miscrna ENSG00000203801 21560 VALIDATED 1347542 LINC00226 long intergenic non-protein coding RNA 226 14 14 q32.33 86674763 86675460 + 106744269 106744966 + 338004 AB019439;ABBA01074095;AMYH01006101;AW205017;NR_033375 Hs.733991 C14orf97;NCRNA00226 APPROVED miscrna ENSG00000229084 20168 VALIDATED 1350477 LINC00229 long intergenic non-protein coding RNA 229 22 q13.3 45002208 45021299 - 22566634 414351 ABBA01017860;AL022333;AMYH01012838;BX090786;NR_044991 Hs.572878 C22orf10;NCRNA00229;dJ474I12.C22.2 APPROVED miscrna 13240 VALIDATED 1345073 LINC00189 long intergenic non-protein coding RNA 189 21 21 21 q22.11 15749254 15843641 + 30565801 30660526 + 30565815 30660526 + 12477932;12036298 193629 ABBA01057257;AF124730;AF124731;AF490769;AMYH01012188;BC065252;NR_027072 AAM18047 Hs.720711 1756187 SHGC-143045 C21orf109;NCRNA00189 APPROVED miscrna ENSG00000215533 18461 PREDICTED 1352219 LINC00239 long intergenic non-protein coding RNA 239 14 14 14 q32.31 82251595 82253683 + 101266524 101268614 + 102196774 102198862 + 6480464 11181995 145200 ABBA01048507;AI304659;AL355032;AMYH01006023;BX113211;CH471061;CK904714;NR_026774 EAW81751 Hs.150840 C14orf72;NCRNA00239 APPROVED miscrna ENSG00000258512 20119 VALIDATED 1602029 LINC00173 long intergenic non-protein coding RNA 173 12 12 12 q24.22 116600674 116603765 + 115455610 115457709 + 116971227 116974318 + 6480464 12477932;14702039;15489334 100287569 Q6ZV60 ABBA01020013;AC090670;AK124947;AMYH01004777;BC038547;BC121822;BC122872;NR_027345;NR_027346 BAC86003;Q6ZV60 Hs.441601 FLJ42957;MGC148154;MGC148155;NCRNA00173 APPROVED miscrna ENSG00000196668 33791 VALIDATED 1605188 LINC00200 long intergenic non-protein coding RNA 200 10 10 10 p15.3 1154821 1159769 + 1195708 1200612 + 1205708 1210612 + 14702039;12477932 399706 ABBA01035258;AK097673;AL607085;AMYH01001976;BC133038;BC133040;CH471072;NR_015376 EAW86512 Hs.721191 1762571 SHGC-146377 C10orf139;FLJ40354;NCRNA00200;RP11-529L18.1 APPROVED miscrna ENSG00000229205 30974 17990 PREDICTED 1603150 LINC00207 long intergenic non-protein coding RNA 207 22 22 22 q13.31 28877119 28880228 + 43343883 43346993 + 44965220 44968329 + 12477932;22566634 388910 Q5JZ73 ABBA01017862;AL022333;AMYH01012838;BC144506;BC144508;BU585030;NR_028409;NR_028410;NR_028411 Hs.332685 1711602;1711604 G49302;G49303 NCRNA00207 APPROVED miscrna ENSG00000187012 37255 18389 VALIDATED 1353902 LINC00202-1 long intergenic non-protein coding RNA 202-1 10 10 10 p12.1 26936625 26947423 - 27260146 27263858 - 27220135 27230930 - 14702039;12477932 387644 ABBA01034405;ABBA01034406;AK097405;AK128027;AL365501;AMYH01002203;AMYH01002204;BC038408;NR_026795 Hs.529965 1685303;5022322 D11S2560;RH92912 C10orf51;FLJ40086;FLJ46146;LINC00202;NCRNA00202;bB27G4.1 APPROVED miscrna ENSG00000232224 24672 VALIDATED 1346647 LINC00244 long intergenic non-protein coding RNA 244 7 7 q36 150760401 150761011 + 156333185 156333795 + 6480464 10329000;12853948 64433 AACC02000068;ABBA01032377;AC073871;AF107456;AMYH01018188;CH236954;NR_024119 Hs.404170 1855348 WIAF-2185 C7orf4;NCRNA00244 APPROVED miscrna 13245 VALIDATED 1349170 LINC00243 long intergenic non-protein coding RNA 243 6 p21.33 30780643 30798436 - 14702039;22566498;22688191;23382691 401247 ABBA01038061;AK098012;AL662797;AL662848;AL773551;AL805917;AMYH01016207;BX927194;CR388215;CR847861;CT009501;XR_158806;XR_159105;XR_159139;XR_159141;XR_159144;XR_159458;XR_171562 BAC05215 Hs.722921 1790831;2189693;2220198;5037552;7184116 C4_2_12;D6S2700;D6S2827;D8S2279 C6orf214;FLJ40693;NCRNA00243;bQB10J12.2;bQB230F21.2 FLJ40693 protein;non-protein coding RNA 243 APPROVED miscrna ENSG00000214894 30956 MODEL 1344699 LINC00254 long intergenic non-protein coding RNA 254 16 16 p13.3 2140497 2146443 - 1928286 1934232 - 64735 ABBA01030290;ABBA01030291;AI209093;AL499628;AMYH01007041;AW592188;BE041842;NR_033914 Hs.662737 C16orf32;FLJ60954;NCRNA00254 non-protein coding RNA 254 APPROVED miscrna ENSG00000162039 14160 VALIDATED 2300136 LINC00251 long intergenic non-protein coding RNA 251 8 q13.1 66073380 66092575 - 552859 ABBA01041858;AC104343;AMYH01018766;AW118206;BX110670;NR_038901 Hs.156997 C8orf25;NCRNA00251 APPROVED miscrna 31950 VALIDATED 1603512 LINC00174 long intergenic non-protein coding RNA 174 7 7 7 q11.21 66250738 66272630 + 65478479 65502830 - 65841031 65865395 - 6480464 16344560;14702039;12477932;12853948;15489334 285908 AA412349;AACC02000112;ABBA01048989;AC008267;AK091213;AK092625;AK124597;AMYH01017488;AW008847;BC020399;BC093655;BC093657;BQ645787;CH236961;CH471140;DB067709;NR_026873 EAX07935 Hs.50755 1685175;2176016;5493251 RH46432;RH75452;UniSTS:485442 NCRNA00174 APPROVED miscrna ENSG00000179406 27788 14160 VALIDATED 1350933 LINC00261 long intergenic non-protein coding RNA 261 20 20 20 p11.21 22614631 22632724 - 22489191 22507280 - 22541191 22559280 - 6480464 11752456;11181995;22681909;23801869;22581228 140828 ABBA01016168;AL121722;AL356742;AMYH01011774;AV648632;BG655894;CH471133;NR_001558 EAX10176 Hs.9842 1853365;1855340;2115007 SHGC-36334;SHGC-37039;WI-11485 C20orf56;HCCDR1;NCRNA00261;bA216C10.1;dJ788L20.2 APPROVED miscrna ENSG00000259974 16189 VALIDATED 1345207 LINC00264 long intergenic non-protein coding RNA 264 10 10 10 p12.1 26590434 26594900 + 26920342 26923265 + 26878794 26883253 + 645528 ABBA01034417;AL160287;AMYH01002200;BC038537;NR_026793 Hs.634511 C10orf50;NCRNA00264;bA128B16.2 APPROVED miscrna ENSG00000233261 17776 VALIDATED 1604895 LINC00238 long intergenic non-protein coding RNA 238 14 14 14 q23.3 47012167 47024330 + 66022862 66035024 + 66953109 66965271 + 12477932 440184 ABBA01023725;AL355093;AMYH01005810;BC033546;BC056671;BC070365;CH471061;NR_024338;NR_024339 EAW80921;EAW80922 Hs.412138 C14orf53;MGC88374;NCRNA00238 APPROVED miscrna ENSG00000196553 20100 14708 VALIDATED 3207431 LINC00265-2P long intergenic non-protein coding RNA 265-2, pseudogene Y q11.23 26422134 26423514 + 100287296 AC012005;NG_004755 NCRNA00265-2P;NCRNA00265B APPROVED pseudo 38523 VALIDATED 1348649 LINC00263 long intergenic non-protein coding RNA 263 10 10 10 q24.31 95871209 95885987 + 102123313 102138107 + 102133333 102148111 + 737633 12477932 16712791;14702039 90271 ABBA01063228;AK023036;AL139819;AMYH01002998;BC024924;BC045787;BC062533;CB159470;NR_026762 Hs.628088 C10orf75;FLJ12974;NCRNA00263;bA34D15.5 APPROVED miscrna 28060 VALIDATED 3077605 LINC00266-2P long intergenic non-protein coding RNA 266-2, pseudogene Y q11.23 26424685 26437623 + 100287785 ABBA01030399;ABBA01030400;ABBA01030401;AC012005;NG_029403 2188783 G66477 NCRNA00266-2P;NCRNA00266B;NCRNA00266Y;NCRNA00266Y1 APPROVED pseudo 38529 INFERRED 3160484 LINC00265-3P long intergenic non-protein coding RNA 265-3, pseudogene Y q11.23 27538928 27540307 - 9847074 100287470 AC006328;NG_004755 NCRNA00265-3P;NCRNA00265C APPROVED pseudo 38536 VALIDATED 1353836 LINC00266-3 long intergenic non-protein coding RNA 266-3 6 6 p25.3 54015 92544 - 54015 92544 - 441123 AL035696;XM_496791;XM_930599 XP_496791;XP_935692 C6orf88;NCRNA00266-3;NCRNA00266C;dJ24O22.2 APPROVED miscrna ENSG00000170590 21112 5135341 LINC00266-4P long intergenic non-protein coding RNA 266-4, pseudogene Y q11.23 27524818 27537757 - 9847074 100642176 AC006328;NG_029404 NCRNA00266-4P;NCRNA00266D;NCRNA00266Y2 APPROVED pseudo 38800 INFERRED 2859135 LINC00268-2P long intergenic non-protein coding RNA 268-2, pseudogene Y q11.1 13326407 13327781 - 9847074 100288610 ABBA01008619;AC134878;NG_029034 NCRNA00268-2P;NCRNA00268B APPROVED pseudo 37771 INFERRED 1347530 LINC00240 long intergenic non-protein coding RNA 240 6 6 p22.2 26989514 27099732 + 26924772 26991753 + 12477932 100133205 ABBA01037984;ABBA01037985;ABBA01037986;AI028608;AL133255;AL590062;AMYH01016186;BC031943;BC044768;BX647648;NR_026775 Hs.526951 1669264 D6S1918 C6orf41;NCRNA00240;bA373D17.1 APPROVED miscrna 18772 VALIDATED 1626579 LINC00269 long intergenic non-protein coding RNA 269 X q13.1 68399400 68429767 + 14702039;11181995 100996279 Q8N2A0 ABBA01067433;ABBA01067434;ABBA01067435;ABBA01067436;ABBA01067437;ABBA01067438;AK090929;AL157699;AL353140;AMYH01022521;CH471132;NR_103715;XM_003846316;XM_003846763;XM_003960827 BAC03549;EAX05366;Q8N2A0;XP_003846364;XP_003846811;XP_003960876 5015619 D11S3114 FLJ33610;NCRNA00269;RP13-153N15.1 APPROVED miscrna 26586 VALIDATED 4110643 LINC00260 long intergenic non-protein coding RNA 260 1 1 1 q32.1 176830260 176830430 + 201966538 201966708 + 203699705 203700981 + 12477932 84719 ABBA01027472;AC114402;AMYH01001657;BC000988;CH471067;NR_046213 AAH00988;EAW91488 Hs.661178 5015961;5022450;5024761 D10S275;D15S1477;RH36905 C1orf217;MGC5457;NCRNA00260 APPROVED miscrna 28770 VALIDATED 4106120 LINC00273 long intergenic non-protein coding RNA 273 16 16 p11.2 33868553 33870004 - 33961052 33962503 - 15353267 649159 Q6PQ33 ABBA01017804;ABBA01017805;AC136932;AMYH01007630;AMYH01007631;AY587847;NR_038368 AAS99556 Hs.532675 1793006;1793026 PMC18377P1;PMC18810P1 NCRNA00273;TOP APPROVED miscrna ENSG00000256642 38595 VALIDATED 1348961 LINC00266-1 long intergenic non-protein coding RNA 266-1 20 q13.33 62921738 62934707 + 12477932 140849 AL137028;AMYH01012107;BC118988;BC122537;NR_040415 AAI18989;AAI22538 Hs.279562 C20orf69;NCRNA00266;NCRNA00266-1;bA476I15.3 APPROVED miscrna 16202 PREDICTED 3476775 LINC00268 long intergenic non-protein coding RNA 268 p11.2 12477932 441426 AK126863;AL513478;BC136786;BC136790 AAI36787;AAI36791 Hs.740213 NCRNA00268;NCRNA00268A APPROVED miscrna 38543 18465 6481431 LINC00278 long intergenic non-protein coding RNA 278 Y 2871037 2970313 + 100873962 ABBA01069774;ABBA01069775;ABBA01069776;ABBA01069777;ABBA01069778;ABBA01069779;ABBA01069780;AC006032;AC006157;AW772613;BF195971;NR_046502 Hs.267256 NCRNA00278 miscrna ENSG00000231535 38712 VALIDATED 6481428 LINC00279 long intergenic non-protein coding RNA 279 100873963 AC064829 NCRNA00279 miscrna 38724 1344460 LINC00242 long intergenic non-protein coding RNA 242 6 6 6 q27 170898669 170908704 - 169930811 169940846 - 170188886 170198921 - 6480464 14574404;12477932;15489334;14702039 401288 Q5T6M2 ABBA01016120;AK056013;AL354892;AMYH01016879;BC119778;BC122871;NR_026781 BAB71073;Q5T6M2 Hs.556095 C6orf122;FLJ31451;NCRNA00242;dJ266L20.5 APPROVED miscrna ENSG00000229214 21249 16657 VALIDATED 6481427 LINC00280 long intergenic non-protein coding RNA 280 100873964 AC006335 NCRNA00280 miscrna 38803 6481260 LINC00283 long intergenic non-protein coding RNA 283 100874057 AL157769 NCRNA00283 miscrna 38809 1602269 LINC00265 long intergenic non-protein coding RNA 265 7 7 7 p14.1 39760680 39820124 + 39787503 39799149 + 39773167 39834222 + 16344560;14702039;12477932;19019082;16751776;21890473;21906983 349114 Q8N836 AACC02000038;ABBA01058144;ABBA01058145;AC004837;AC004987;AI304809;AK097404;AMYH01017190;BC038571;BC053841;CH236951;DA726117;DQ575856;NR_026999 BAC05037 Hs.414183 1706708;1769603 GDB:1317952;SHGC-82859 NCRNA00265 APPROVED miscrna 28019 14182 VALIDATED 4109757 LINC00284 long intergenic non-protein coding RNA 284 13 13 13 q14.11 25652630 25660759 + 43494471 43500982 + 44596471 44604599 + 14702039 121838 ABBA01021237;AK001938;AK001941;AL646099;AMYH01005081;NR_026955 Hs.201441 1721925 G59995 NCRNA00284 APPROVED miscrna 26981 PREDICTED 4110051 LINC00282 long intergenic non-protein coding RNA 282 13 13 13 q14.3 33436122 33467903 - 51288888 51317283 - 52387483 52419286 - 14702039;16344560 283521 ABBA01051051;AK094626;AK124707;AL162377;AMYH01005116;DA339105;NR_027047;NR_027048 Hs.649896 1763429 SHGC-147141 FLJ37307;NCRNA00282 APPROVED miscrna 26737 PREDICTED 2303453 LINC00271 long intergenic non-protein coding RNA 271 6 6 6 q23.3 136559305 136752341 + 135860182 135881620 + 135818939 136011976 + 17668382;17473831;16773125;16344560;15169551;12477932;22610502;20580033;20452750 100131814 P0C7V0 ABBA01025837;ABBA01025838;ABBA01025839;ABBA01025840;AJ606314;AJ606326;AL035604;AL133544;AL512426;AMYH01016695;BC040979;BC127000;BC127001;EU130902;NR_026805 P0C7V0 Hs.734007 1713529;1724643;1770636;1777798;1856998 AL021856;AL021857;G01852;RH120250;RH121322 C6orf217;NCRNA00271 APPROVED miscrna ENSG00000231028 32526 PREDICTED 6481265 LINC00297 long intergenic non-protein coding RNA 297 13 30446750 30462542 - 20460270 100874059 ABBA01035707;AL139188;AMYH01005001;BQ677672;NR_046510 Hs.569261 NCRNA00297 miscrna ENSG00000224329 39210 VALIDATED 4143809 LINC00290 long intergenic non-protein coding RNA 290 4 4 4 q34.3 179313655 179408676 - 182222236 182317296 - 181985242 182080302 - 11181995 728081 ABBA01070477;AC093699;AF088005;AMYH01014751;AMYH01014752;CH471056;NR_033918 EAX04709 Hs.535735 1700386;1856208;2148298;2159208;2160179;2176471 B303XE1;D4S3191;G16214;RH103813;SHGC-14930;SHGC-50688 NCRNA00290 APPROVED miscrna ENSG00000248197 38515 VALIDATED 4144952 LINC00294 long intergenic non-protein coding RNA 294 11 11 p13 33244394 33247698 + 33097696 33101000 + 14702039 283267 ABBA01060898;AC131263;AK054565;AK091059;AMYH01003482;BC006446;BC046921;NR_015451 Hs.533701 1649103;1671173;5014051;5022578;5037552 D11S4385;D1S1423;D8S2278;D8S2279;G17571 NCRNA00294 APPROVED miscrna 27456 612296 VALIDATED 4108279 LINC00272 long intergenic non-protein coding RNA 272 1 1 q25.3 155487842 155495038 + 182376756 182383948 + 12477932;12801632;16710414;19322201 388719 ABBA01027765;AF508909;AL139344;AMYH01001547;BC140780;CH471067;NR_034131 AAI40781;EAW91124 Hs.508989 C1orf120;MGC176457;NCRNA00272;RP1-223H12.3 APPROVED miscrna ENSG00000203729 26898 17987 VALIDATED 1348895 LINC00302 long intergenic non-protein coding RNA 302 q21.3 9344646 388699 O14635 AF005082 AAB83962;O14635 Hs.516420 C1orf46;NCRNA00302;xp33 APPROVED miscrna 31825 4107349 LINC00276 long intergenic non-protein coding RNA 276 p24.3 12477932 100499171 AC017088;AC064846;BC035112;NR_103814 Hs.565606 NCRNA00276 APPROVED miscrna 38663 VALIDATED 1605831 LINC00304 long intergenic non-protein coding RNA 304 16 16 16 q24.3 74291250 74295695 + 87753129 87754268 + 89225628 89230083 + 6480464 14702039 283860 Q8N9R0 ABBA01014163;AC009113;AK094020;AMYH01007925;AMYH01007926;NR_024347 BAC04270;Q8N9R0 Hs.739138 C16orf81;FLJ36701;NCRNA00304 APPROVED miscrna ENSG00000180422 26713 08209 VALIDATED 5131738 LINC00307 long intergenic non-protein coding RNA 307 21 q22.11 31581469 31584101 - 12036297 266919 ABBA01057268;AMYH01012189;AP000884;AY063455;NR_038855 Hs.561028 D21S2091E;NCRNA00307 non-protein coding RNA 307 APPROVED miscrna ENSG00000227342 16727 VALIDATED 1349398 LINC00308 long intergenic non-protein coding RNA 308 21 21 q21.1 8658040 8665104 + 23470936 23488847 + 12036298;12036298 54143 Q8TCZ7 ABBA01057169;AMYH01012165;AP000705;AP000951;AY077696;NR_038400 AAL82536;Q8TCZ7 Hs.352631 C21orf74;NCRNA00308;PRED16 APPROVED miscrna ENSG00000184856 16023 VALIDATED 5132831 LINC00309 long intergenic non-protein coding RNA 309 2 2 p15 64263468 64283871 - 64412212 64432619 - 150992 ABBA01075416;AC012368;AL137337;AMYH01010399;NR_033837 Hs.272318 DKFZp434G179;NCRNA00309 APPROVED miscrna ENSG00000230923 25279 PREDICTED 1350003 LINC00305 long intergenic non-protein coding RNA 305 18 18 18 q22.1 58467337 58536365 - 59898516 59923074 - 61747243 61816260 - 737633;6480464 12477932 15489334;18851979 221241 Q7Z4B0 ABBA01056231;AC021607;AMYH01009057;AY336744;BC029565;CH471096;NR_027245 AAQ16114;ABW03412;ABW03742;EAW63167;Q7Z4B0 Hs.567778 1662329;1695816;1714913;1730523;1813120;1813346;1815254;1815562;1816490;1823200;1823448;1823698;1823772;1825380;1827506;1836938;1883714;1883716;1883718;1883720;1883722;1883724;1883726;1883728;1883730;1883732;1883734;1883736;1883738;1883740;1883742;1883744;1883746;1883748;1883750;1883752;1883754;1883756;1883758;1883760;1883762;1883764;1883766;1883768;1883770;1883772;1883774;1883776;1883778;1883780;1883782;1883784;1883786;1883788;1883790;1883792;1883794;1883796;1883798;1883800;1883802;1883804;1883806;1883808;1883810;1883812;1883814;1883816;1883818;1883820;1883822;1883824;1883826;1883828;1883830;1883832;1883834;1883836;1883838;1883840;1883842;1883844;1883846;2200496;2200498;2200500;2200502;2200504;2200506;2200508;2200510;2200512;2200514;2200516 D18S1037;D18S81;ECD07579;ECD07694;ECD08662;ECD08817;ECD09287;ECD12689;ECD12815;ECD12941;ECD12978;ECD13796;ECD14869;ECD19633;REN12550;REN12551;REN12552;REN12553;REN12554;REN12555;REN12556;REN12557;REN12558;REN12559;REN12560;REN12561;REN12562;REN12563;REN12564;REN12565;REN12566;REN12567;REN12568;REN12569;REN12570;REN12571;REN12572;REN12573;REN12574;REN12575;REN12576;REN12577;REN12578;REN12579;REN12580;REN12581;REN12582;REN12583;REN12584;REN12585;REN12586;REN12587;REN12588;REN12589;REN12590;REN12591;REN12592;REN12593;REN12594;REN12595;REN12596;REN12597;REN12598;REN12599;REN12600;REN12601;REN12602;REN12603;REN12604;REN12605;REN12606;REN12607;REN12608;REN12609;REN12610;REN12611;REN12612;REN12613;REN12614;REN12615;REN12616;RH120451;SHGC-82575;stSG619652;stSG619653;stSG619654;stSG619655;stSG619656;stSG619657;stSG619658;stSG619659;stSG619660;stSG619661;stSG619662 C18orf20;HsT1235;MGC39571;NCRNA00305 APPROVED miscrna ENSG00000179676 28597 16624 PREDICTED 2303891 LINC00277 long intergenic non-protein coding RNA 277 15 15 15 q23 46262493 46277474 + 69373190 69388164 + 69373190 69388164 + 15489334;14702039;12477932 283673 AA843716;ABBA01038769;AC027088;AK091087;AK097560;AK292174;AMYH01006741;BC101594;BC101596;BX493526;CH471082;NR_026949 BAC03580;BAF84863;EAW77833;EAW77834;EAW77835 Hs.177927 1677596;1849164;2220646 D15S927;RH91981;UniSTS:486979 FLJ33768;MGC126643;MGC126645;NCRNA00277;TMEM84 APPROVED miscrna ENSG00000212766 26596 08746 VALIDATED 4144905 LINC00293 long intergenic non-protein coding RNA 293 8 8 q11.1 43736801 43751700 + 47752508 47767407 + 12477932;14702039;15676287 497634 ABBA01018439;AC021451;AK097475;AMYH01018700;BC041354;NR_027012;NR_027013 Hs.406982 BEYLA;NCRNA00293 APPROVED miscrna ENSG00000253314 39078 609543 PREDICTED 4108295 LINC00299 long intergenic non-protein coding RNA 299 2 2 2 p25.1 8060235 8380838 - 8354728 8386000 - 8147901 8468549 - 12477932;14702039;23217328;22075330;23251661 339789 Q6ZSB3 ABBA01015553;ABBA01015554;ABBA01015555;AC007464;AC092177;AK127578;AMYH01010090;BC043563;NR_034135;U91324 BAC87041;Q6ZSB3 Hs.565619 1335612;1341690;1696550;1722143;1753037;1765103;1775155;2162551;2169148;2174612;7187618 D2S2164;D2S249;D2S359;G60119;SHGC-13005;SHGC-148628;SHGC-60506;SHGC-77907;SHGC-78149;WI-16270 C2orf46;FLJ45673;NCRNA00299 APPROVED miscrna ENSG00000236790 27940 14171 PREDICTED 2303826 LINC00301 long intergenic non-protein coding RNA 301 11 11 11 q12.2 57747506 57818862 + 60145120 60173336 + 60383224 60454622 + 15489334;12477932 283197 Q8NCQ3 ABBA01021511;ABBA01021512;ABBA01021513;AK058123;AMYH01003668;AP003399;AP004243;BC029583;BX103095;CH471076;NR_026946 ABM82418;ABM85609;EAW73894;EAW73895;EAW73896;Q8NCQ3 Hs.372650 C11orf64;MGC39681;NCRNA00301 APPROVED miscrna ENSG00000181995 28603 17544 VALIDATED 1345949 LINC00315 long intergenic non-protein coding RNA 315 21 21 q22.3 45547459 45548850 - 46723031 46724422 - 12036297;12036297;20494980 246704 P59091 ABBA01074190;AF427488;AMYH01012310;BX322557;NM_145179;XR_158954;XR_159366;XR_172354 AAM53527;P59091 Hs.171428 C21orf93;NCRNA00315 APPROVED miscrna 16621 10777 MODEL 1354271 LINC00316 long intergenic non-protein coding RNA 316 21 21 q22.3 31869206 31872668 - 46758505 46761906 - 11329013 388830 Q9NSH9 ABBA01074192;ABBA01074193;AL163302;AMYH01012311;BG221750;BG221754;BX322557;CH471079;NR_103811;XR_109684;XR_112210;XR_172355 CAB90481;EAX09347 Hs.592162 C21orf111;NCRNA00316;PRED59 APPROVED miscrna ENSG00000237664 19723 VALIDATED 1601805 LINC00303 long intergenic non-protein coding RNA 303 1 1 1 q32.1 177136995 177145812 - 202268198 202277011 - 204001575 204010392 - 15489334;14702039;12477932 284573 Q3SY05 ABBA01027458;ABBA01027459;ABBA01027460;AC096645;AK097662;AMYH01001661;BC104010;BC104011;BC104012;CH471067;NR_027902 AAI04011;AAI04012;AAI04013;BAC05136;EAW91498;Q3SY05 Hs.406979 C1orf157;FLJ40343;MGC120329;MGC120330;MGC120332;NCRNA00303 APPROVED miscrna ENSG00000176754 26865 08279 VALIDATED 1353720 LINC00310 long intergenic non-protein coding RNA 310 21 21 q22.11 20752539 20761781 + 35552978 35562220 + 15489334;14702039;12477932;12036297;11181995 114036 P59036 ABBA01057365;AF426258;AK092704;AMYH01012214;AP000316;BC093749;BC111996;CH471079;NR_027266;NR_027267 AAM53514;EAX09792;EAX09793;P59036 Hs.720230 1784478;5118278 D13S985;SHGC-170207 C21orf82;FLJ35385;MGC138201;NCRNA00310 APPROVED miscrna ENSG00000227456 16414 VALIDATED 5133574 LINC00311 long intergenic non-protein coding RNA 311 16 16 16 q24.1 69621629 69622458 + 83873762 83874591 + 85316564 85321688 + 12477932;15489334 197196 Q8N616 ABBA01016882;AC092275;AMYH01007878;BC030801;CH471114;NR_038859 AAH30801;EAW95454;Q8N616 Hs.679002 5020274;5037552 D8S2279;L18441 MGC22001;NCRNA00311;TMEM148 APPROVED miscrna ENSG00000179219 28312 14484 PREDICTED 1345302 LINC00317 long intergenic non-protein coding RNA 317 21 q21.1 23095613 23109639 - 12477932 378828 ABBA01057163;AF241725;AMYH01012165;BC009878;BF026848;NR_038872 Hs.551009 C21orf117;NCRNA00317;PRED89 APPROVED miscrna ENSG00000238265 23126 VALIDATED 1348308 LINC00313 long intergenic non-protein coding RNA 313 21 21 21 q22.3 29988222 30004630 - 43706403 43722442 - 44881974 44898103 - 15489334;12477932;12036297 114038 P59037 ABBA01074123;AF426261;AMYH01012278;AP001048;AP001049;BC107109;CH471079;NR_026863 AAM53517;EAX09488;EAX09489;EAX09490;EAX09491;EAX09492;P59037 Hs.592161 1682233 RH98398 C21orf84;MGC129789;NCRNA00313 APPROVED miscrna ENSG00000185186 16416 10770 PREDICTED 1350860 LINC00314 long intergenic non-protein coding RNA 314 21 21 21 q21.3 14568963 14578808 + 28316921 28317109 + 29385682 29395528 + 15489334;12477932;12036297 246705 P59092 ABBA01057233;AF427489;AJ006995;AMYH01012184;BC126226;BC126230;CB049373;CH471079;NR_027246 AAM53528;EAX09944;P59092 Hs.505079 C21orf94;NCRNA00314 APPROVED miscrna ENSG00000178457 16622 10778 VALIDATED 1603251 LINC00323 long intergenic non-protein coding RNA 323 21 21 21 q22.2 27711607 27718170 - 42513427 42519991 - 42513427 42519991 - 14702039 284835 ABBA01044666;AK094492;AL773572;AMYH01012262;NR_024100 Hs.106234 1689935 RH80933 C21orf130;FLJ37173;NCRNA00323;PRED42 APPROVED miscrna ENSG00000226496 19720 PREDICTED 5133120 LINC00327 long intergenic non-protein coding RNA 327 13 13 5106652 5124272 + 24043651 24061603 + 22493691 100506697 ABBA01007878;AL354815;AL833146;AMYH01004969;BX098743;NR_038995 Hs.50118 1693824;1698770;5015619;5017170;5037552 D11S3114;D8S2279;L29953;RH102948;SHGC-56695 NCRNA00327 APPROVED miscrna ENSG00000232977 42009 VALIDATED 6480992 LINC00328-2P long intergenic non-protein coding RNA 328-2, pseudogene 13 19383970 19384188 + 100874404 ABBA01068537;AL391382;AMYH01004934;NG_032649 NCRNA00328-2P;NCRNA00328B pseudo 42027 INFERRED 1347210 LINC00312 long intergenic non-protein coding RNA 312 3 3 3 p25.3 8550226 8552338 + 8588891 8590576 + 8613468 8616354 + 6480464 15489334;15474036;14702039;12918109;12477932;12452030;11780420;19591174;8889548 29931 Q9Y6C7 ABBA01020417;AC087859;AF086709;AK054898;AMYH01012962;AW269670;BC009773;BC016278;BM686558;BQ002364;CH471055;NR_024065 AAD45398;EAW63939;Q9Y6C7 Hs.433151 1669822;2163624 RH35965;SHGC-33743 ERR-10;ERR10;LOH3CR2A;NAG-7;NAG7;NCRNA00312 APPROVED miscrna 6662 17440 610485 VALIDATED 6481214 LINC00329 long intergenic non-protein coding RNA 329 100874125 AL355595 miscrna 42038 6481213 LINC00331 long intergenic non-protein coding RNA 331 13 79361454 79398991 - 23382691 100874126 AA393556;ABBA01021683;AL354869;AMYH01005226;HY012880;NR_046869 Hs.577893 NCRNA00331 miscrna 42048 VALIDATED 6481212 LINC00332 long intergenic non-protein coding RNA 332 13 40755946 40763167 + 100874127 ABBA01021302;AL356217;AMYH01005050;BE789257;NR_046870 Hs.578028 NCRNA00332 miscrna ENSG00000230710 42049 VALIDATED 7246189 LINC00322 long intergenic non-protein coding RNA 322 14702039;17081983;8889548 100126693 Q6ZN03 ABBA01074121;AK131425;AMYH01012277;AP001046;BM691132;NR_103713;XR_109689;XR_112200;XR_172350 BAD18572;Q6ZN03 Hs.473952 C21orf136;NCRNA00322 miscrna 33698 VALIDATED 1602153 LINC00336 long intergenic non-protein coding RNA 336 6 6 6 p21.31 35108262 35115494 - 33661861 33669093 - 33553883 33561115 - 19851445 401253 Q6ZUF6 ABBA01038158;AK125740;AMYH01016247;NR_027908;Z93017 BAC86269;Q6ZUF6 Hs.520075 1339434;7186216 D6S1560 C6orf227;FLJ43752;NCRNA00336 APPROVED miscrna ENSG00000197251 33813 16966 VALIDATED 1345223 LINC00319 long intergenic non-protein coding RNA 319 21 21 21 q22.3 29976153 29980022 + 43694418 43694903 + 44869904 44873773 + 14702039;12477932;20494980 284836 ABBA01074122;AK095355;AK128444;AMYH01012278;AP001047;AW294163;BC128187;BC128188;NR_026960 BAC87443 Hs.146127 2220592 UniSTS:485691 C21orf125;FLJ38036;NCRNA00319;PRED49 APPROVED miscrna ENSG00000188660 19730 10738 PREDICTED 6481218 LINC00333 long intergenic non-protein coding RNA 333 13 84714737 85137369 + 21347282;22365631 100874128 ABBA01021745;ABBA01021746;ABBA01021747;AL162493;AL162494;AL445195;AL445604;AL603627;AMYH01005248;BI821261;NR_046871 Hs.578060 NCRNA00333 miscrna 42050 VALIDATED 5687482 LINC00330 long intergenic non-protein coding RNA 330 13 q14.11 45373640 45383766 - 14702039 144817 ABBA01021226;AK056732;AL136966;AMYH01005083;NR_038433 Hs.585616 5016478 GDB:434012 NCRNA00330 miscrna ENSG00000235097 42047 PREDICTED 2304147 LINC00338 long intergenic non-protein coding RNA 338 17 17 17 q25.2 71679509 71685850 + 72602081 72602275 + 75084725 75091068 + 6480464 16373490;16344560 654434 ABBA01028720;AC015815;AF130050;AK098448;AMYH01008653;BX648413;DA068554;DA916381;FN357117;FN357118;FN357121;FN357125;NR_027058 AAG35478;CAY10351;CAY10352;CAY10355;CAY10359 Hs.720923 5014019;5015404;5016478;5037552 D5S2354;D8S2279;GDB:434012;L17705 C17orf86;DKFZp686L05235;FLJ25582;NCRNA00338;PRO0872 APPROVED miscrna ENSG00000234912 33099 VALIDATED 1344191 LINC00320 long intergenic non-protein coding RNA 320 21 21 q21.1 7286014 7346511 - 22114913 22175426 - 14702039;12477932 387486 ABBA01057157;ABBA01057158;AK094858;AMYH01012161;AP000957;BC042856;BC044727;BC047405;BC064598;BX537735;NR_024090 Hs.576551 1760279;2138436;2157069 SHGC-132806;SHGC-52096;STS-N40204 C21orf131;DKFZp686B23275;FLJ37539;NCRNA00320;PRED14 APPROVED miscrna ENSG00000224924 19690 VALIDATED 1604176 LINC00326 long intergenic non-protein coding RNA 326 6 6 6 q23.2 134150296 134168794 + 133450960 133469173 + 133409219 133427717 + 6480464 12477932 285735 ABBA01025874;AL591115;AMYH01016681;BC039371;BC101702;BC101704;BI460768;CH471051;NR_026969 EAW48007 Hs.407549 MGC126751;MGC126753;NCRNA00326 APPROVED miscrna 41926 18776 PREDICTED 5133562 LINC00339 long intergenic non-protein coding RNA 339 1 1 p36.12 20674703 20680702 + 22351707 22357716 + 6480464 11042152;12477932 29092 Q9P007 ABBA01059840;AF161506;AL031281;AMYH01000345;BC016053;BC040947;BC056896;BC071749;CA489192;NR_023918;NR_023919 AAF29121 Hs.279842 5024250 SHGC-74351 HSPC157;NCRNA00339 APPROVED miscrna ENSG00000218510 25011 VALIDATED 6481219 LINC00344 long intergenic non-protein coding RNA 344 100874133 AI674044;AL159982 Hs.567700 NCRNA00344 miscrna 42501 6481220 LINC00345 long intergenic non-protein coding RNA 345 100874134 AL137058 miscrna 42503 2303883 LINC00324 long intergenic non-protein coding RNA 324 17 17 17 p13.1 8152389 8155805 - 8066482 8067138 - 8123948 8127361 - 6480464 15489334;14702039;12477932 284029 Q8NAT9 ABBA01054904;AC135178;AK092109;AMYH01008088;BC063002;BC089396;BC113564;NR_026951 BAC03808;Q8NAT9 Hs.121692 1698314 RH102697 C17orf44;FLJ34790;MGC104931;NCRNA00324 APPROVED miscrna ENSG00000178977 26628 08755 VALIDATED 5467112 LINC00340 long intergenic non-protein coding RNA 340 6 p22.3 21666675 22194629 + 12477932;14702039;16543943;18463370;21124317;21946350;22941191;23284291 401237 ABBA01022283;ABBA01022284;ABBA01022285;ABBA01022286;ABBA01022287;ABBA01022288;ABBA01022289;ABBA01022290;ABBA01022291;ABBA01022292;ABBA01022293;ABBA01022294;ABBA01022295;ABBA01022296;ABBA01022297;ABBA01022298;AF086455;AK022865;AK026189;AK094718;AK096633;AK300802;AK310212;AL008732;AL136179;AL136313;AL160260;AL161436;AL359694;AL512344;AMYH01016137;AMYH01016138;AMYH01016139;AMYH01016140;AMYH01016141;AMYH01016142;BC044235;NR_015410 BAG62460 Hs.712707 1336201;1337435;1338975;1339844;1644279;1650282;1660886;1662730;1667727;1674527;1674934;1694192;1706088;1710984;1715641;1715803;1717755;1722789;1722923;1723123;1732007;1732009;1768908;1786032;1788820;1788824;1788852;1788872;1788912;1850354;2112234;2153451;2157375;2162535;2184393;2184697;5016781;5022651 A004M23;AL008737;D11S2921;D6S1029;D6S1501;D6S1588;D6S1597;D6S1686;D6S2148;D6S2250;D6S506;D6S507;G17038;G60336;G60558;G67600;G67601;G67602;G67603;G67604;RH119266;RH119598;RH121785;RH123746;RH15831;RH46644;RH46729;RH64859;RH66723;SGC36817;SHGC-155368;SHGC-30550;SHGC-67307;SHGC-80081;SHGC-84864;WI-12018;WI-13536;WI-18694 FLJ12803;FLJ17254;FLJ22536;FLJ51318 miscrna 28245 PREDICTED 6483997 LINC00348 long intergenic non-protein coding RNA 348 13 q21.33 71717315 71742549 + 100885781 AA431807;ABBA01050324;AI480312;AL139001;AL139803;AMYH01005197;NR_047699 Hs.372660 miscrna ENSG00000226846 42658 VALIDATED 6481223 LINC00349 long intergenic non-protein coding RNA 349 100874135 AL138715 miscrna 42667 6481221 LINC00350 long intergenic non-protein coding RNA 350 100874136 AL359457 miscrna 42668 6481227 LINC00351 long intergenic non-protein coding RNA 351 13 85937738 86118797 + 100874137 ABBA01012305;AL353623;AL355580;AMYH01005256;AMYH01005257;BM559680;NR_046989 Hs.742643 miscrna ENSG00000226317 42669 VALIDATED 6481226 LINC00352 long intergenic non-protein coding RNA 352 100874138 AL354815 miscrna 42670 6481225 LINC00353 long intergenic non-protein coding RNA 353 13 90201048 90216667 - 11329013 100874139 ABBA01027257;AL583783;AMYH01005280;BG193334;NR_046991 Hs.742173 miscrna 42671 VALIDATED 6481228 LINC00354 long intergenic non-protein coding RNA 354 100874140 AL136302 miscrna 42672 6481229 LINC00356 long intergenic non-protein coding RNA 356 100874141 AL589745 miscrna 42675 6481230 LINC00358 long intergenic non-protein coding RNA 358 100874143 AL445219 miscrna 42678 7246542 LINC00337 long intergenic non-protein coding RNA 337 12477932;15489334 148645 Q8N6G1 ABBA01035440;AL031847;AMYH01000210;BC030279;BE546866;CH471130;NR_103534;XR_109862;XR_111921;XR_171147 AAH30279;EAW71524;Q8N6G1 Hs.185688 2132284;5022651 D11S2921;G21080 C1orf211;NCRNA00337 miscrna ENSG00000225077 28620 17550 VALIDATED 6481231 LINC00357 long intergenic non-protein coding RNA 357 100874142 AL354798 miscrna 42677 6481234 LINC00362 long intergenic non-protein coding RNA 362 100874144 AL356287 miscrna 42682 6481233 LINC00364 long intergenic non-protein coding RNA 364 11329013 100874145 AL391374;BG210290 Hs.508194 uncharacterized protein LOC100874145 miscrna 42686 6481235 LINC00365 long intergenic non-protein coding RNA 365 100874146 AL354674 miscrna 42687 6481232 LINC00366 long intergenic non-protein coding RNA 366 13 39141861 39153653 + 100874147 ABBA01021324;AC017111;AL441986;AMYH01005044;BX643138;NR_046999 Hs.555371 DKFZp781N1822 miscrna 42688 VALIDATED 5488137 LINC00342 long intergenic non-protein coding RNA 342 2 q11.2 96469157 96492729 - 14702039;12477932 150759 ABBA01030072;AC008268;AK057592;AK057596;AK093195;AL832439;AMYH01010712;BC117383;BC126153;NR_103734;XR_109915;XR_112352;XR_171309 Hs.503463 NCRNA00342 miscrna 42470 VALIDATED 6481242 LINC00372 long intergenic non-protein coding RNA 372 100874148 AL160157 miscrna 42694 7242868 LINC00371 long intergenic non-protein coding RNA 371 13 q14.3 51658287 51723129 - 23382691 647166 ABBA01051044;ABBA01051045;AL040612;AL040615;AL157817;AL160157;AL583782;AMYH01005115;CX751673;DR156254;DV080333;NR_102431;NR_102432;XR_132731;XR_133031;XR_172022 Hs.539702 1335982;1706460;7186920 D13S284;SHGC-81115 LINC00372 miscrna 42693 VALIDATED 6481241 LINC00378 long intergenic non-protein coding RNA 378 100874149 AI024366;AL161901;AW105167 Hs.578045 miscrna 42704 6481240 LINC00379 long intergenic non-protein coding RNA 379 13 91779867 91863952 - 100874150 ABBA01027237;AI863608;AL157878;AL353734;AMYH01005286;CD387405;NR_047004 Hs.711947 miscrna 42705 VALIDATED 6481237 LINC00387 long intergenic non-protein coding RNA 387 100874152 AL359737 miscrna 42715 6481236 LINC00381 long intergenic non-protein coding RNA 381 13 q22.1 74993310 75009296 + 11181995;22610502 100874151 AA397742;AA421131;ABBA01050359;ABBA01050360;AL355390;AMYH01005209;AMYH01005210;CH471093;NR_047005 EAW80534 Hs.564552;Hs.743188 miscrna ENSG00000226240 42708 VALIDATED 6481238 LINC00388 long intergenic non-protein coding RNA 388 100874153 AL359737 miscrna 42716 6484000 LINC00359 long intergenic non-protein coding RNA 359 13 q 97593535 97636426 - 16344560 100887754 ABBA01027167;AL353581;AMYH01005311;DA939673;NR_051966 Hs.617003 miscrna 42679 VALIDATED 6481248 LINC00393 long intergenic non-protein coding RNA 393 100874156 AL160032 miscrna 42721 6481239 LINC00391 long intergenic non-protein coding RNA 391 100874154 AL137061 miscrna 42719 6481243 LINC00392 long intergenic non-protein coding RNA 392 100874155 AL160032 miscrna 42720 6481250 LINC00395 long intergenic non-protein coding RNA 395 q21.31 100874157 AI352571;AL445989;AW592306;BE044201;NR_047011 Hs.539670;Hs.735640 miscrna 42723 VALIDATED 5488833 LINC00402 long intergenic non-protein coding RNA 402 13 74805581 74834113 + 100507612 AL353660;AMYH01005209;XR_110128;XR_172009 Hs.447508 1336658;1780296;7186328 D13S269;G67101 miscrna ENSG00000235532 42732 MODEL 6481246 LINC00400 long intergenic non-protein coding RNA 400 100874159 AL138709 miscrna 42729 5488928 LINC00403 long intergenic non-protein coding RNA 403 13 112761231 112762329 + 100505996 ABBA01019841;AL356961;AMYH01005387;XR_110304;XR_133036;XR_172024 Hs.734713 1752261 SHGC-106134 miscrna 42733 MODEL 6481245 LINC00404 long intergenic non-protein coding RNA 404 100874160 AL356961 miscrna 42734 5688622 LINC00343 long intergenic non-protein coding RNA 343 13 q33.2 106359218 106414143 + 12477932 144920 ABBA01027054;ABBA01027055;ABBA01027056;AK058053;AL159982;AL359745;AMYH01005353;AMYH01005354;BC126908;BC127249;NR_046391 Hs.567700 NCRNA00343 miscrna 42500 PREDICTED 6481247 LINC00411 long intergenic non-protein coding RNA 411 100874161 AL139374 miscrna 42744 6481249 LINC00413 long intergenic non-protein coding RNA 413 100874162 AL450447 miscrna 42746 6481251 LINC00415 long intergenic non-protein coding RNA 415 100874163 AL139004 miscrna 42748 6481244 LINC00398 long intergenic non-protein coding RNA 398 13 31377343 31384782 + 16344560 100874158 ABBA01035689;AL512642;AMYH01005011;DB005052;NR_047012 Hs.577982 miscrna ENSG00000237879 42727 PREDICTED 6481258 LINC00419 long intergenic non-protein coding RNA 419 100874165 AL391382 miscrna 42753 1353573 LINC00341 long intergenic non-protein coding RNA 341 14 14 14 q32.13 75929305 75932128 - 94945157 94946650 - 95873603 95876427 - 6480464 15489334;14702039;12477932;16169070;21832049 79686 Q9H761 ABBA01048604;AK024929;AL138539;AMYH01005974;BC008299;CH471061;CR457337;NR_026779 BAB15037;CAG33618;EAW81600;Q9H761 Hs.41502 1666910;1852029 AFMa301ze1;RH44999 C14orf139;FLJ21276;NCRNA00341 APPROVED miscrna ENSG00000229645 20353 16606 VALIDATED 6481252 LINC00420 long intergenic non-protein coding RNA 420 100874166 AL356259;BC017420;BG527679 miscrna 42754 5488937 LINC00422 long intergenic non-protein coding RNA 422 13 21899764 21922860 - 100505610 XR_110134;XR_111366 miscrna 42757 6481257 LINC00417 long intergenic non-protein coding RNA 417 16344560 100874164 AL391382;DB339619;NR_047508 Hs.739604 5112333 RH103540 miscrna 42751 VALIDATED 5486603 LINC00410 long intergenic non-protein coding RNA 410 13 q31.3 91543208 91578851 - 11181995;14702039 144776 ABBA01027242;AK055781;AL355799;AMYH01005286;CH471085;NR_027039 EAX08924 Hs.434120;Hs.742599 2139779 D13S1190 miscrna ENSG00000231674 42742 VALIDATED 5488991 LINC00426 long intergenic non-protein coding RNA 426 13 q12.3 30914407 30948036 - 100188949 ABBA01035702;AL356750;AMYH01005007;BX443263;NR_024464 Hs.439791 1775773;1802378;1803574;1805124;1805796;1809092;1811548;1812036;1814636;1814932;1817406;1818004;1821274;1822914;1825286;1826604;1826606;1827910;1830392;1830750;1830950;1832174;1832820;1833382;1833600;1834644;1836010;1836594;1836934;1839220;1839468;1840964;1841210;1841628;1843294;1845978;1862002;1862004;1862006;1862008;1862010;1862012;1862014;1862016;1862018;1862020;1862022;1862024;1862026;1862028;1862030;1862032;1862034;1862036;1862038;1862040;1862042;1862044;1862046;1862048;1862050;1862052;1862054;1862056;1862058;1862060;1862062;1862064;1862066;1862068;1862070;1862072;1862074;1862076;1862078;1862080;1862082;1862084;1862086;1862088;1862090;1862092;1862094;1862096;1862098;1862100;1862102;1862104;1862106;1862108;1862110;1862112;1862114;1862116;1862118;1862120;1862122;1862124;1862126;1862128;1862130;1862132;1862134;1862136;1862138;1862140;1862142;1862144;1862146;1862148;1862150;1862152;1862154;1862156;1862158;1862160;1862162;1862164;1862166;1862168;1862170;1862172;1862174;1862176;1862178;1862180;1862182;1862184;1862186;1862188;1862190;1862192;1862194;1862196;1862198;1862200;1862202;1862204;1862206;1862208;1862210;1862212;1862214;1862216;1862218;1862220;1862222;1862224;1862226;1862228;1862230;1862232;1862234;1862236;1862238;1862240;1862242;1862244;1862246;1862248;1862250;1862252;1862254;1862256;1862258;1862260;1862262;1862264;1862266;1862268;1862270;1862272;1862274;1862276;1862278;1862280;1862282;1862284;1862286;1862288;1862290;1862292;1862294;1862296;1862298;1862300;1862302;1862304;1862306;1862308;1862310;1862312;2113330;2145029;2197466;2197468;2197470;2197472;2197474;2197476;2197478;2197480;2197482;2197484;2197486;2197488;2197490;2197492;2197494;2197496;2197498;2197500;2197502;2197504;2197506;2197508;2197510;2197512;2197514;2197516;2197518;2197520;2197522 D13S1726;ECD02073;ECD02689;ECD03504;ECD03849;ECD05534;ECD06777;ECD07023;ECD08348;ECD08497;ECD09753;ECD10057;ECD11717;ECD12545;ECD13748;ECD14416;ECD14417;ECD15078;ECD16330;ECD16511;ECD16611;ECD17225;ECD17551;ECD17834;ECD17944;ECD18470;ECD19166;ECD19461;ECD19631;ECD20790;ECD20916;ECD21675;ECD21800;ECD22011;ECD22855;ECD24209;G17759;REN1659;REN1660;REN1661;REN1662;REN1663;REN1664;REN1665;REN1666;REN1667;REN1668;REN1669;REN1670;REN1671;REN1672;REN1673;REN1674;REN1675;REN1676;REN1677;REN1678;REN1679;REN1680;REN1681;REN1682;REN1683;REN1684;REN1685;REN1686;REN1687;REN1688;REN1689;REN1690;REN1691;REN1692;REN1693;REN1694;REN1695;REN1696;REN1697;REN1698;REN1699;REN1700;REN1701;REN1702;REN1703;REN1704;REN1705;REN1706;REN1707;REN1708;REN1709;REN1710;REN1711;REN1712;REN1713;REN1714;REN1715;REN1716;REN1717;REN1718;REN1719;REN1720;REN1721;REN1722;REN1723;REN1724;REN1725;REN1726;REN1727;REN1728;REN1729;REN1730;REN1731;REN1732;REN1733;REN1734;REN1735;REN1736;REN1737;REN1738;REN1739;REN1740;REN1741;REN1742;REN1743;REN1744;REN1745;REN1746;REN1747;REN1748;REN1749;REN1750;REN1751;REN1752;REN1753;REN1754;REN1755;REN1756;REN1757;REN1758;REN1759;REN1760;REN1761;REN1762;REN1763;REN1764;REN1765;REN1766;REN1767;REN1768;REN1769;REN1770;REN1771;REN1772;REN1773;REN1774;REN1775;REN1776;REN1777;REN1778;REN1779;REN1780;REN1781;REN1782;REN1783;REN1784;REN1785;REN1786;REN1787;REN1788;REN1789;REN1790;REN1791;REN1792;REN1793;REN1794;REN1795;REN1796;REN1797;REN1798;REN1799;REN1800;REN1801;REN1802;REN1803;REN1804;REN1805;REN1806;REN1807;REN1808;REN1809;REN1810;REN1811;REN1812;REN1813;REN1814;SHGC-60145;stSG616791;stSG616792;stSG616793;stSG616794;stSG616795;stSG616796;stSG616797;stSG616798;stSG616799;stSG616800;stSG616801;stSG616802;stSG616803;stSG616804;stSG616805;stSG616806;stSG616807;stSG616808;stSG616809;stSG616810;stSG616811;stSG616812;stSG616813;stSG616814;stSG616815;stSG616816;stSG616817;stSG616818;stSG616819 miscrna ENSG00000238121 42761 VALIDATED 5488551 LINC00347 long intergenic non-protein coding RNA 347 13 q21.33 75126980 75131257 + 12477932;22359512 338864 ABBA01050361;AL157814;AMYH01005210;BC043259;NR_034024;NR_034025 Hs.97408 miscrna ENSG00000236678 27890 VALIDATED 5488860 LINC00427 long intergenic non-protein coding RNA 427 13 30890497 30894039 - 100507040 ABBA01035702;AL356750;AMYH01005007;XR_110111;XR_111373;XR_171998 Hs.183176 1823068;1825070;1825680;1830948;1831882;1832034;1833484;1842406;1861802;1861804;1861806;1861808;1861810;1861812;1861814;1861816;1861818;1861820;1861822;1861824;1861826;1861828;1861830;1861832;1861834;1861836;1861838;1861840;1861842;1861844;1861846 ECD12622;ECD13636;ECD13948;ECD16610;ECD17079;ECD17155;ECD17885;ECD22406;REN1559;REN1560;REN1561;REN1562;REN1563;REN1564;REN1565;REN1566;REN1567;REN1568;REN1569;REN1570;REN1571;REN1572;REN1573;REN1574;REN1575;REN1576;REN1577;REN1578;REN1579;REN1580;REN1581 miscrna ENSG00000236463 42762 MODEL 6481253 LINC00433 long intergenic non-protein coding RNA 433 13 89193084 89197764 + 100874168 ABBA01027264;AL445984;AMYH01005276;AW664738;AW664858;BI520070;NR_047021 Hs.126406 miscrna 42768 VALIDATED 6481256 LINC00438 long intergenic non-protein coding RNA 438 100874170 AL360267 miscrna 42775 6481255 LINC00434 long intergenic non-protein coding RNA 434 11329013 100874169 AI521184;AL359920;BG221120 Hs.615544;Hs.736761 miscrna 42769 6481193 LINC00439 long intergenic non-protein coding RNA 439 13 78513393 78549674 - 100874171 ABBA01021669;AL139002;AMYH01005225;BG436360;BM557607;NR_047024 Hs.743195 miscrna 42776 VALIDATED 6481191 LINC00440 long intergenic non-protein coding RNA 440 11329013 100874172 AL354997;BG209582 Hs.569291 miscrna 42777 6481138 LINC00424 long intergenic non-protein coding RNA 424 13 22446935 22452299 - 14702039;16344560 100874182 ABBA01068613;AK057351;AL139034;AMYH01004963;BX092749;DB335972;NR_047040 Hs.148951;Hs.737034 FLJ32789 miscrna 42815 VALIDATED 2307246 LINC00346 long intergenic non-protein coding RNA 346 13 13 13 q34 92362548 92368867 - 110319620 110320138 - 111516334 111522655 - 6480464 15489334;12477932 283487 Q8IVM7 ABBA01026990;AJ295981;AK307956;AL157875;AL831965;AMYH01005379;BC093904;BC104998;BX647632;NR_027701 AAH93904;AAI04999;CAC82494;Q8IVM7 Hs.245390 1740089;2160554;2169389;5015959;5037554;5493143 D10S2448;D13S1221;D13S852E;D8S2282;SHGC-30457;UniSTS:484433 C13orf29;FLJ97904;NCRNA00346 APPROVED miscrna 27492 14144 VALIDATED 6481196 LINC00444 long intergenic non-protein coding RNA 444 100874174 AL138962 miscrna 42781 5687509 LINC00445 long intergenic non-protein coding RNA 445 13 36271692 36273138 + 100507114 ABBA01010170;AL139083;AMYH01005036;XR_110115;XR_111378;XR_172001 Hs.741798 miscrna ENSG00000236036 42782 MODEL 6481198 LINC00446 long intergenic non-protein coding RNA 446 13 78587018 78627730 + 100874175 AA906842;ABBA01021672;AL162852;AMYH01005226;BX109374;NR_047028 Hs.130364 miscrna 42783 VALIDATED 6481135 LINC00448 long intergenic non-protein coding RNA 448 100874176 AL445668;AL606808 miscrna 42785 6481195 LINC00443 long intergenic non-protein coding RNA 443 13 107306228 107324528 + 11329013;16344560 100874173 ABBA01027046;AL442127;AMYH01005358;BG205531;BX117718;DB312066;NR_047026 Hs.569297 miscrna ENSG00000230156 42780 VALIDATED 6481132 LINC00453 long intergenic non-protein coding RNA 453 100874177 AA723779;AI393115;BX072579;BX111115 Hs.127655 miscrna 42801 6481134 LINC00454 long intergenic non-protein coding RNA 454 100874178 BI829679;BX072579 Hs.547957 miscrna 42802 6481137 LINC00457 long intergenic non-protein coding RNA 457 13 35009587 35214822 - 100874179 ABBA01010164;ABBA01010165;ABBA01010166;AI201900;AI972930;AL138956;AL138961;AL161716;AMYH01005027;AMYH01005028;AMYH01005029;AMYH01005030;AMYH01005031;NR_047036 Hs.569253 miscrna ENSG00000225179 42805 VALIDATED 5488837 LINC00458 long intergenic non-protein coding RNA 458 13 54689923 54701478 - 100507428 ABBA01037051;AL356052;AMYH01005130;XR_110126;XR_133032;XR_172007 Hs.351262 miscrna 42807 MODEL 6481139 LINC00459 long intergenic non-protein coding RNA 459 q21.31 7757816 100874180 AL160151;BX113955;R46019;T24087;Z39313 Hs.7415 2143402 Cda17a11 miscrna 42808 7248624 LINC00408 long intergenic non-protein coding RNA 408 12477932 100652856 ABBA01068540;ABBA01068541;ABBA01068542;AL355516;AMYH01004934;BC035261;BG722014;XR_132732;XR_132733;XR_159227;XR_171991 Hs.549878 miscrna 42740 MODEL 6481254 LINC00423 long intergenic non-protein coding RNA 423 13 33383328 33485790 - 12477932;21116278 100874167 ABBA01010150;ABBA01010151;ABBA01010152;AL138820;AMYH01005023;AMYH01005024;BC024029;NR_047020 Hs.406290 miscrna 42758 VALIDATED 5488185 LINC00421 long intergenic non-protein coding RNA 421 13 q12.11 19919189 19920889 + 12477932 100287114 ABBA01068554;AL356259;AMYH01004936;BC022083;CH471075;NR_034026 EAX08215 Hs.375063 miscrna ENSG00000236834 42755 VALIDATED 6484100 LINC00462 long intergenic non-protein coding RNA 462 13 q14.2 49151110 49155037 - 100129597 ABBA01051009;AI307356;AL157813;AMYH01005103;BM472085;NR_051983 Hs.175225 1730928;2111604 D13S1545;D13S210 miscrna ENSG00000233610 42811 VALIDATED 6481141 LINC00464 long intergenic non-protein coding RNA 464 100874181 AL138999;AL139081;AL139383;AL161719 miscrna 42814 5688842 LINC00441 long intergenic non-protein coding RNA 441 13 q14.2 48870649 48877797 - 12477932 100862704 AA804643;ABBA01051004;AL392048;AMYH01005101;BC039553;NR_046414 Hs.374221 miscrna ENSG00000231473 42778 VALIDATED 5488501 LINC00442 long intergenic non-protein coding RNA 442 13 13 q12.11 18480399 18484777 + 19582399 19586774 + 12477932 348021 ABBA01068543;AK301801;AL137001;AMYH01004934;BC047425;BC067875;BC094789;NR_026852 BAH13557 Hs.314114 miscrna ENSG00000232685 42779 VALIDATED 1343439 LINC00470 long intergenic non-protein coding RNA 470 18 18 18 1143158 1234457 - 1244390 1349440 - 1268312 1359630 - 6480464 14702039;11173868 56651 Q9BZP3 ABBA01049826;AF295725;AF295726;AF295727;AF295728;AF295729;AF295730;AK057505;AMYH01008775;AP000829;AP005119;CH471113;NR_023925;NR_023926;NR_023927 AAK13319;AAK13320;AAK13321;EAX01703;EAX01704;Q9BZP3 Hs.541165 1740225;2136751;2160782 D18S1076;D18S1316;SHGC-59268 C18orf2 APPROVED miscrna 1225 07576 VALIDATED 6484484 LINC00452 long intergenic non-protein coding RNA 452 13 q34 114598076 114624290 + 12477932;22491018 643365 Q6ZU18 ABBA01015945;AK126042;AMYH01005406;BC034570;BC068105;BX072579;NM_001278674;XR_159067;XR_159234;XR_172027 BAC86409;NP_001265603 Hs.740982 FLJ44054 uncharacterized protein LOC643365 protein-coding ENSG00000229373 42800 VALIDATED 5488222 LINC00460 long intergenic non-protein coding RNA 460 13 q33.3 107028911 107030140 + 12477932 728192 ABBA01027050;AL136159;AMYH01005356;BC009533;BC061905;BI544279;NR_034119 Hs.559194 miscrna 42809 VALIDATED 5489845 LINC00466 long intergenic non-protein coding RNA 466 1 p31.3 63624754 63782901 - 12477932 199899 ABBA01074575;ABBA01074576;ABBA01074577;AC096543;AL049636;AL138935;AMYH01000671;AMYH01000672;BC040309;NR_038252 Hs.116210 miscrna 27294 VALIDATED 2303472 LINC00472 long intergenic non-protein coding RNA 472 6 6 6 q13 72512586 72518885 - 72182655 72188553 - 72124149 72130448 - 6480464 16344560;14702039;14574404;8889548 79940 Q9H8W2 ABBA01040282;AI688494;AK023251;AL035467;AMYH01016417;AW274058;BM720568;CH471051;DA622283;NR_026807 BAB14488;EAW48798;EAW48799;EAW48800;EAW48801;Q9H8W2 Hs.368337 1747881 G66871 C6orf155;FLJ13189;dJ288M22.3 APPROVED miscrna ENSG00000233237 21380 12860 VALIDATED 5484684 LINC00461 long intergenic non-protein coding RNA 461 5 5 q14.3 87871743 88010012 - 87836597 87980620 - 12477932;14702039;16344560;21060863 645323 ABBA01062135;ABBA01062136;ABBA01062137;AC008525;AC008526;AC012604;AC026701;AK055372;AK091356;AK308694;AK309800;AK311230;AMYH01015474;AMYH01015475;BC036480;BC047100;BC048008;DA122372;DA493278;DA778665;DB490657;DC320345;NR_015436;NR_024383;NR_024384 Hs.12827;Hs.744298 1659380;1668340;1757611;2111348;2117767;2157795 A008L33;AFMa224we5;D5S1558E;RH66334;SHGC-145106;WI-19356 EyeLinc1 miscrna ENSG00000245526 42810 VALIDATED 1605277 LINC00471 long intergenic non-protein coding RNA 471 2 2 2 q37.1 226149538 226155456 - 232081381 232087294 - 232373137 232379050 - 12477932 151477 Q8N535 ABBA01002056;AC017104;AMYH01011558;BC033054;CH471063;NR_024079 AAY24248;ABM82565;ABM85754;EAW70965 Hs.375211 C2orf52;MGC43122 APPROVED miscrna ENSG00000181798 28668 14629 PREDICTED 1606485 LINC00467 long intergenic non-protein coding RNA 467 1 1 1 q32.3 184782772 184832462 + 209622753 209672502 + 211556097 211605877 + 6480464 16710414;15489334;15342556;12477932;19773279 84791 Q9BRT7 ABBA01048192;AK130857;AK130858;AL590101;AMYH01001699;BC005997;BP197632;BX382054;CH471100;NR_026761 EAW93415;EAW93416;Q9BRT7 Hs.523932 5037552 D8S2279 C1orf97;FLJ27347;FLJ27348;MGC14801;RP11-318L16.3 APPROVED miscrna ENSG00000153363 28227 17500 VALIDATED 1342598 LINC00473 long intergenic non-protein coding RNA 473 6 6 6 q27 167077057 167141065 - 166257526 166321599 - 166337536 166401527 - 16344560;12477932;22108211 90632 A8K010 ABBA01015078;ABBA01015079;ABBA01015080;ABBA01015081;AK289375;AL132661;AL590482;AMYH01016845;BC008632;BC039614;CB270066;DA416538;NR_026860;NR_026861 A8K010;BAF82064 Hs.31917 1691924;1697838;1710282;1773832;2167696 AL033626;D6S2174;D6S392;RH102444;SHGC-85237 C6orf176;bA142J11.1 APPROVED miscrna ENSG00000223414 21160 VALIDATED 1353553 LINC00476 long intergenic non-protein coding RNA 476 9 9 9 q22.32 69009955 69079860 - 97677146 97678057 - 98568370 98638259 - 15164053;14702039;8889548 100128782 Q8WZ93;Q8WZB0 ABBA01043604;ABBA01043605;AF170307;AF194971;AK092137;AK092145;AL161454;AL354861;AL389954;AMYH01021542;BU687794;CH471174;NR_023389;NR_023390 AAL35407;AAL35408;EAW92634;Q8WZB0 Hs.494549 1675347;1688859;1695998;1708986;1856811;2115922;2128281;5015881;5022649;5024756;5037552 D11S2875;D8S2279;GDB:335751;RH66530;RH79616;RH80030;RH93909;SHGC-57426;SHGC-79554;SHGC-82765;U57801 C9orf130;FLJ34818;FLJ34826;NAG11;NAG12 APPROVED miscrna ENSG00000175611 27858 VALIDATED 1343338 LINC00474 long intergenic non-protein coding RNA 474 9 9 9 q31.3 89298154 89334987 - 117690266 117727307 - 118650544 118687377 - 6480464 12477932;10492169;20583170;21184217 58483 Q9P2X8 AB021923;ABBA01042650;AL732367;AMYH01021677;BC104240;BC104241;BC112996;BC112997;BC120871;BC128039;CH471090;NR_024032 BAA96243;EAW87438;Q9P2X8 Hs.23367 1662847;1667227;1722239 G60025;RH36595;WIAF-2155 C9orf27;EST-YD1;MGC126098;MGC126099 APPROVED miscrna 23367 12951 PREDICTED 1605548 LINC00469 long intergenic non-protein coding RNA 469 17 17 17 q25.1 68329905 68410352 - 69257004 69336271 - 71745409 71824676 - 15489334;14702039;12477932;23382691 283982 Q8N7U9 ABBA01028855;ABBA01028856;AC125421;AK097638;AMYH01008622;AMYH01008623;BC101213;BC101214;BC101215;CH471099;NR_027146 AAI01214;AAI01216;BAC05128;EAW89134;EAW89135;Q8N7U9 Hs.464079 1338578;1762119 D17S1829;SHGC-146017 C17orf54;FLJ40319;MGC120127 APPROVED miscrna 26863 08277 PREDICTED 6482623 LINC00485 long intergenic non-protein coding RNA 485 12 q23.2 103203061 103218177 - 283432 ABBA01053223;AC069227;AMYH01004704;BC037211;NR_033855 Hs.382110 5015861;5022578;5037552;7185938 D10S16;D1S1423;D8S2279 miscrna ENSG00000258169 27476 PREDICTED 1348848 LINC00475 long intergenic non-protein coding RNA 475 9 9 q22.31 65340042 65358183 + 94903749 94921890 + 14702039;12477932 158314 ABBA01018582;AK023662;AL354751;AMYH01021508;BC128384;NR_027341 Hs.149940 1680717;1697200;1744883 D17F294S2;RH102091;RH76735 C9orf44 APPROVED miscrna 23569 PREDICTED 5133342 LINC00487 long intergenic non-protein coding RNA 487 2 2 2 p25.2 6782275 6823418 - 6789708 6827893 - 6869300 6910442 - 400941 Q6ZVL4 AA768014;ABBA01023892;ABBA01023893;ABBA01023894;AC079923;AK124409;AMYH01010087;BX118372;NR_038369 BAC85847 Hs.446195 1685810 RH99298 FLJ42418 APPROVED miscrna ENSG00000205837 42947 13462 VALIDATED 1603360 LINC00477 long intergenic non-protein coding RNA 477 12 12 12 p12.1 29866796 29884000 - 24611165 24628369 - 24719898 24737102 - 6480464 20339536;14702039;12477932;20639392 144360 Q96M19 ABBA01068004;AC087312;AK057456;AMYH01004335;BC104436;BC104437;CH471094;NR_029451 BAB71495;EAW96495;Q96M19 Hs.350668 1710906;5493159 SHGC-84250;UniSTS:484501 C12orf67;FAM191B;FLJ32894;MGC129798;MGC129799 APPROVED miscrna ENSG00000197503 26557 08738 VALIDATED 5686919 LINC00489 long intergenic non-protein coding RNA 489 20 q11.23 36247700 36251521 - 16344560 100861522 ABBA01006623;AL109614;AMYH01011899;DB341379;NR_047461 Hs.580680 miscrna ENSG00000225759 43426 VALIDATED 1346473 LINC00479 long intergenic non-protein coding RNA 479 21 21 21 q22.3 28281476 28285731 - 42006085 42008982 - 43131680 43135935 - 14702039;12477932;10830953;16009131;20494980 150135 Q96M42 ABBA01012805;AK057397;AMYH01012263;AP001615;BC128198;CH471079;NR_027272 BAB71470;EAX09593;EAX09594;Q96M42 Hs.350679 1680188 RH98449 C21orf129;FLJ32835;PRED76 APPROVED miscrna ENSG00000236384 19727 10741 VALIDATED 2302584 LINC00483 long intergenic non-protein coding RNA 483 17 17 17 q21.33 45296105 45306275 - 46193646 46199875 - 48838395 48844876 - 12477932;15342556 55018 Q53H64 ABBA01041246;AC005921;AK000670;AK000701;AK222717;AK310037;AMYH01008476;BC128165;BC128166;BP382918;CH471109;NR_073199 BAA91328;BAD96437;EAW94582;Q53H64 Hs.389460 2220572;5024761;5037552 D8S2279;RH36905;UniSTS:485494 C17orf73;FLJ20694 APPROVED miscrna ENSG00000167117 26080 07942 VALIDATED 1602280 LINC00482 long intergenic non-protein coding RNA 482 17 17 17 q25.3 75910977 75917780 - 76891219 76897643 - 79276624 79283048 - 6480464 14702039;12477932 284185 Q8N8I6 ABBA01032137;ABBA01032138;AC027601;AK096740;AMYH01008708;AMYH01008709;BC108932;BC108933;CH471099;NR_038080 AAI08933;AAI08934;BAC04855;EAW89645;EAW89646;Q8N8I6 Hs.631762 2165357 RH47108 C17orf55;FLJ39421;MGC120553;MGC120556 hypothetical protein LOC284185 APPROVED miscrna 26816 08254 VALIDATED 1351648 LINC00478 long intergenic non-protein coding RNA 478 21 21 21 q21.1 2613111 3152282 + 16364713 16901413 + 17442842 17982094 + 6480464 14702039;12036298;10830953;8889548;19913121;20628086;12477932;20379614;20732626;23144326;23251661 388815 A1L4M7;Q8TDA7 ABBA01057095;ABBA01057096;ABBA01057097;ABBA01057098;ABBA01057099;ABBA01057100;ABBA01057101;AF486622;AK095614;AL700268;AMYH01012142;AMYH01012143;AMYH01012144;AP000473;AP000962;AP001172;AP001343;AP001344;AP001346;BC130602;BC130606;CF135136;CF135139;CH471079;NR_027790;NR_027791 A1L4M7;AAI30603;AAI30607;AAL92104;EAX10037;EAX10039 Hs.473394 1340142;1665969;1678269;1678879;1681318;1687884;1689901;1721949;1732115;1748583;1750979;1784424;1855258;2137679;2137681;2156439 D21S173;D21S1886;D21S1962;G34566;G35305;G59859;RH45651;RH65194;RH65394;RH91873;RH93002;SHGC-104918;SHGC-110244;SHGC-112012;SHGC-36273;SHGC-52033 C21orf34;C21orf35;FLJ38295 APPROVED miscrna ENSG00000215386 1274 10746 VALIDATED 5686947 LINC00492 long intergenic non-protein coding RNA 492 q21.1 8889548 100861468 AC099487;CA314239 Hs.519483 miscrna 43429 6481320 LINC00498 long intergenic non-protein coding RNA 498 100874046 AC093903 miscrna 43435 6481323 LINC00499 long intergenic non-protein coding RNA 499 4 139230865 139345498 + 16344560 100874047 ABBA01044915;AC093903;AC105416;AMYH01014560;DA139039;DA150093;DA157986;DA412005;NR_051987 Hs.570848 miscrna ENSG00000251372 43436 VALIDATED 6482540 LINC00486 long intergenic non-protein coding RNA 486 2 p22.3 33050510 33162270 + 12477932;14702039;22610502 285045 ABBA01074900;ABBA01074901;ABBA01074902;ABBA01074903;AK095182;AL121656;AL133244;AMYH01010236;AMYH01010237;BC040883;BC121144;BC121145;NR_027098;NR_027099;NR_027100 Hs.434660 1339808 D2S2325 miscrna ENSG00000230876 42946 PREDICTED 6481259 LINC00505 long intergenic non-protein coding RNA 505 100874049 AL137797 miscrna 43556 2303460 LINC00488 long intergenic non-protein coding RNA 488 3 3 3 q13.13 107295148 107302244 + 110379702 110386794 + 108897012 108904108 + 14702039;12477932 677779 ABBA01061697;AC063923;AK123226;AMYH01013383;BC022563;CX865329;NR_026767 Hs.618669 C3orf66;FLJ41232 APPROVED miscrna ENSG00000214381 32675 VALIDATED 5509629 LINC00501 long intergenic non-protein coding RNA 501 q26.32 14702039 100820709 AC117465;AK055528 Hs.518409 5014051;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;L18426 miscrna 43439 5553025 LINC00511 long intergenic non-protein coding RNA 511 17 q24.3 70594180 70636611 - 23400010 400619 ABBA01028886;ABBA01028887;AC006948;AC080037;AK129994;AMYH01008611;NR_033876 Hs.447555 FLJ26484 miscrna ENSG00000227036 43564 VALIDATED 6481146 LINC00502 long intergenic non-protein coding RNA 502 10 92805565 92821916 + 16344560 100874184 ABBA01021930;AL365434;AMYH01002938;AW169934;DB339345;NR_047467 Hs.512240 miscrna 43442 VALIDATED 1352200 LINC00515 long intergenic non-protein coding RNA 515 21 21 21 q21.3 12138498 12138947 - 26955087 26955536 - 26955087 26955536 - 282566 ABBA01057210;AF086441;AMYH01012174;AP000223;NR_024092 Hs.384586 1699602 RH103402 C21orf71;PRED21 APPROVED miscrna ENSG00000260583 16019 PREDICTED 1346998 LINC00516 long intergenic non-protein coding RNA 516 q11.2 414763 BC040855;NR_073459 Hs.617315 C14orf17 long intergenic non-protein coding RNA 516 APPROVED pseudo 19436 VALIDATED 5683682 LINC00514 long intergenic non-protein coding RNA 514 16 p13.3 3039055 3044510 + 14702039 283875 ABBA01026723;AC004233;AK098017;AK128266;AMYH01007087;NR_033861 Hs.620489;Hs.738691 5015404;5016478;5016781;5022578;5024413;5037552 D1S1423;D8S2279;GDB:434012;L17705;L17877;SHGC-67307 FLJ46402 miscrna 27549 PREDICTED 5509631 LINC00491 long intergenic non-protein coding RNA 491 q21.2 12477932;14702039;15146197;16344560 285708 AC099487;AK092078;BC008363;BG777293;CN270888;DA458115;DA458823;DB322847;NR_103753;NR_103754;NR_103755;NR_103756 Hs.533011 5014051;5022578;5037552 D1S1423;D8S2278;D8S2279 miscrna 43428 VALIDATED 1312543 LINC00520 long intergenic non-protein coding RNA 520 14 14 14 q22.3 36297194 36312734 - 55318799 55333128 - 56247853 56263392 - 6480464 23251661 645687 ABBA01018217;AL355773;AMYH01005748;BG104219;BU171486;BU178088;NR_026796;NR_026797 Hs.569345 1707338 SHGC-79290 C14orf34 APPROVED miscrna 19843 VALIDATED 5509666 LINC00493 long intergenic non-protein coding RNA 493 20 20 p11.23 18490635 18498255 + 18548073 18550204 + 6480464 12477932;21906983 388789 K7EKZ9;K7EMB3 ABBA01054048;ABBA01054049;AF147354;AK024594;AL121900;AMYH01011743;BC015983;BC039422;BC092494;BC127753;BC127754;BC141963;BC141964;BC150559;BC150560;NR_015432 Hs.349092 2156379 HUM000HB11 FLJ20941 miscrna ENSG00000232388 43430 PREDICTED 1345483 LINC00524 long intergenic non-protein coding RNA 524 q32.31 338002 AA602129;AA843471 Hs.124848 C14orf71 chromosome 14 open reading frame 71;long intergenic non-protein coding RNA 524 APPROVED miscrna 20118 5552963 LINC00494 long intergenic non-protein coding RNA 494 20 20 q13.13 46430840 46431235 + 46988654 46999381 + 12477932;16344560 284749 AA400799;ABBA01052718;AL137078;AL832259;AMYH01011956;BC035164;BC122555;DB034461;NR_026958 AAI22556 Hs.299080 miscrna ENSG00000235621 27657 VALIDATED 5509959 LINC00506 long intergenic non-protein coding RNA 506 p12.1 12477932 100846978 AC107204;AC108709;BC030609 5015661;5118384;5118686 D11S3243;D11S3553;D3S3184 miscrna 43557 5688428 LINC00507 long intergenic non-protein coding RNA 507 12 q24.32 128399955 128436097 + 12477932 100862680 ABBA01060300;AC087894;AMYH01004866;AMYH01004867;BC037880;BC045798;NR_046392 Hs.385496 miscrna ENSG00000256193 43558 VALIDATED 6481264 LINC00534 long intergenic non-protein coding RNA 534 8 91233716 91400187 + 100874052 ABBA01037407;ABBA01037408;AC004083;AC079967;AMYH01018873;BF212685;BG492574;BG494657;BG496346;NR_051989 Hs.571514 miscrna ENSG00000253394 43643 VALIDATED 1602284 LINC00518 long intergenic non-protein coding RNA 518 6 6 6 p24.3 11656497 11663529 - 10537663 10542760 - 10428018 10435055 - 12477932 221718 Q8N0U6 ABBA01022076;AL138885;AMYH01016079;BC016666;BC017496;BC028118;CH471087;NR_027793 AAH17496;AAH28118;EAW55254;EAW55255;EAW55256;Q8N0U6 Hs.44714 1678007 RH94060 C6orf218;MGC40222 APPROVED miscrna 28626 17554 VALIDATED 7246732 LINC00528 long intergenic non-protein coding RNA 528 14702039;16344560 200298 Q8N1L1 ABBA01001429;AC016026;AK097861;AMYH01012439;AW406974;DB114556;NR_103718;XR_109694;XR_112218;XR_172359 BAC05187;Q8N1L1 Hs.517397 1685321;2161705 RH27783;RH77734 C22orf37 miscrna ENSG00000269220 26875 VALIDATED 1342701 LINC00526 long intergenic non-protein coding RNA 526 18 18 18 p11.31 5121152 5122457 - 5226717 5228042 - 5236723 5238028 - 737633;6480464 12477932 15489334 147525 Q96FQ7 ABBA01049876;AK292743;AMYH01008784;AP001496;BC010538;CH471113;NR_026849 BAF85432;EAX01649;Q96FQ7 Hs.657197 1339551;2141333 D7S509;RH78881 C18orf18;HsT959;MGC17515 APPROVED miscrna 28278 VALIDATED 5686983 LINC00538 long intergenic non-protein coding RNA 538 1 q32.3 214098092 214099997 + 22258142 100861504 ABBA01048151;AC011700;AMYH01001716;JF495099;NR_046189 Hs.742586 Yiya miscrna 43655 614635 PROVISIONAL 5687497 LINC00539 long intergenic non-protein coding RNA 539 13 q12.11 21877510 21886653 - 10409428 100652865 AA446493;ABBA01068604;AI206458;AL139380;AL158032;AMYH01004957;BF185586;BQ007438;CD684045;NR_103840;NR_103841;XR_132734;XR_159228;XR_171992 Hs.659198 LINC00422 miscrna 43672 VALIDATED 5684119 LINC00525 long intergenic non-protein coding RNA 525 7 p12.3 47801074 47806370 + 12690205;12477932;12853948 84847 Q96IP2 AACC02000093;ABBA01041085;AC019066;AMYH01017230;BC007354;CH236958;NR_038407 AAH07354;AAS07565;EAL23805 Hs.488236 MGC16075 miscrna ENSG00000146666 40290 PREDICTED 1354296 LINC00523 long intergenic non-protein coding RNA 523 14 14 14 q32.2 81178440 81193917 + 100193358 100208834 + 101123605 101139081 + 14702039;12477932;22118674 283601 Q86TU6 ABBA01048523;AK094097;AL132711;AMYH01006013;BC132989;BC132991;BX161445;CH471061;NR_024096 CAD61912;EAW81709;Q86TU6 Hs.379802 C14orf70 APPROVED miscrna ENSG00000196273 20117 16621 PREDICTED 5687453 LINC00545 long intergenic non-protein coding RNA 545 13 q12.3 31437687 31457532 + 11329013;11181995 440132 ABBA01010119;AL353680;AL512642;AL645498;AL929081;AMYH01005012;BG199438;BX510662;CH471075;NR_103813;XR_132736;XR_133027;XR_171999 EAX08468;EAX08469 Hs.729493 1335512;1681817;1755619;1759191;2113420 D13S1774;D13S290;RH98804;SHGC-142473;SHGC-2181 miscrna 43680 VALIDATED 6480356 LINC00535 long intergenic non-protein coding RNA 535 8 q22.1 94358695 94712661 - 12477932 642924 ABBA01037434;ABBA01037435;ABBA01037436;ABBA01037437;ABBA01037438;AC011118;AC090687;AC120053;AMYH01018881;AMYH01018882;AMYH01018883;BC037909;NR_033858 Hs.434882 1644534;1698054;1708306;1752207;1767737;1772431;1776124;1786796 D8S1455;D8S1637;D8S2097;GDB:1317564;RH102558;SHGC-106116;SHGC-156129;SHGC-79712 miscrna ENSG00000246662 43644 VALIDATED 5687412 LINC00548 long intergenic non-protein coding RNA 548 13 q14.11 40768646 40794639 - 400123 ABBA01021300;ABBA01021301;ABBA01021302;AK124383;AL356217;AMYH01005050;AMYH01005051;AMYH01005052;NR_033877 Hs.577960 FLJ42392 miscrna 43683 VALIDATED 5687399 LINC00547 long intergenic non-protein coding RNA 547 13 q13.3 38109077 38125673 + 14702039 400121 ABBA01021331;AK092066;AL136220;AL646087;AMYH01005042;NR_040244 Hs.558894 FLJ34747 miscrna 43682 VALIDATED 1344728 LINC00521 long intergenic non-protein coding RNA 521 14 14 14 q32.12 74517363 74531787 + 93533395 93544962 + 94463616 94478041 + 6480464 16189514;15489334;15014966;14702039;12477932 256369 Q8NCU1 AA412651;ABBA01030424;AK097741;AL079302;AL157489;AMYH01005968;BC021728;BC031252;BI458986;CH471061;DB446670;NR_024182;NR_024183;NR_024184 BAC05156;EAW81544;EAW81545;EAW81546;Q8NCU1 Hs.143845 1690996;2151097;2152366 D14S846;G27504;RH92153 C14orf48;DKFZp434O1910;MGC33356;c14_5713 APPROVED miscrna ENSG00000175699 19860 12651 VALIDATED 5687411 LINC00536 long intergenic non-protein coding RNA 536 8 q23.3 116962736 117337297 - 12477932 100859921 ABBA01037782;ABBA01037783;ABBA01037784;ABBA01037785;ABBA01037786;ABBA01037787;ABBA01037788;AC090994;AC103863;AF130342;AF130343;AMYH01018978;AMYH01018979;BC040336;NR_046215 Hs.552281 miscrna ENSG00000249917 43645 VALIDATED 5687539 LINC00551 long intergenic non-protein coding RNA 551 13 q33.3 107270158 107284006 + 283483 ABBA01027047;ABBA01027048;AK098538;AL442127;AMYH01005358;NR_051977 Hs.651365 1762663 SHGC-146458 miscrna 43691 VALIDATED 6480302 LINC00555 long intergenic non-protein coding RNA 555 q33.1 11991713 100861543 AF339825;AL158063 Hs.554116 1650093 RH48036 miscrna 43699 6480381 LINC00556 long intergenic non-protein coding RNA 556 q12.11 100861551 AF086361;AL138688 Hs.572247 1700726;2115776 RH103988;SHGC-57888 miscrna 43700 6480303 LINC00557 long intergenic non-protein coding RNA 557 q32.1 11991713 100861544 AF339811;AL139381 Hs.48706 1689496 RH91278 miscrna 43701 5686448 LINC00537 long intergenic non-protein coding RNA 537 q21.11 12477932 203274 AL117607;BC080605;BC110369;CR786580 Hs.599821;Hs.741916 long intergenic non-protein coding RNA 537;uncharacterized protein LOC203274 miscrna 43654 5687470 LINC00552 long intergenic non-protein coding RNA 552 13 q34 114451484 114454062 - 14702039 100130386 Q8N7Z6 ABBA01015953;AC187648;AK057435;AK097509;AMYH01005404;NR_028064 BAB71485;BAC05080 Hs.704121 FLJ32873 miscrna 43692 VALIDATED 1604900 LINC00544 long intergenic non-protein coding RNA 544 13 13 13 q12.3 11580295 11594237 + 29408668 29422625 + 30510668 30524625 + 12477932 440131 Q5TAE0 ABBA01035707;AI026706;AL139188;AMYH01005001;AMYH01005002;BC132810;BC132836;BX118434;CH471075;NR_033889 EAX08450 Hs.132371 1810786;1812882;1814634;1815552;1837524;1858690;1858692;1858694;1858696;1858698;1858700;1858702;1858704;1858706;1858708;1858710;1858712;1858714;1858716;1858718;1858720;1858722;1858724;1858726;1858728;1858730;1858732;1858734;1858736;2196944;2196946;2196948;2196950 ECD06391;ECD07454;ECD08347;ECD08812;ECD19929;REN1;REN10;REN11;REN12;REN13;REN14;REN15;REN16;REN17;REN18;REN19;REN2;REN20;REN21;REN22;REN23;REN24;REN3;REN4;REN5;REN6;REN7;REN8;REN9;stSG616521;stSG616522;stSG616523;stSG616524 APPROVED miscrna 43679 17398 VALIDATED 5687490 LINC00540 long intergenic non-protein coding RNA 540 13 22784424 22850665 + 12477932;14702039 100506622 ABBA01068616;AK054845;AL136962;AL137248;AL590804;AMYH01004965;BC035104;NR_103810;XR_110105;XR_111368;XR_171993 Hs.255773 1661014;2176868 D13S115;D13S323 miscrna 43673 VALIDATED 6480349 LINC00562 long intergenic non-protein coding RNA 562 q14.2 14702039 100861549 AK123146;AL138962;AL157369 Hs.660978 5022651;5037552 D11S2921;D8S2279 miscrna 43706 6480299 LINC00563 long intergenic non-protein coding RNA 563 13 q14.13 46870580 46871979 - 8619474;9110174 100861554 ABBA01050985;AL139801;AMYH01005093;NR_047493;U79295 Hs.90866 1738385;1764999;2129092;2136877;2140693;2175568;5019667 A009C05;D13S658E;G32404;RH44231;SHGC-148550;STS-F02690;WI-20699 miscrna ENSG00000261097 43707 VALIDATED 5687474 LINC00550 long intergenic non-protein coding RNA 550 13 q21.33 69435416 69459457 - 12477932 338862 ABBA01050299;AL450445;AMYH01005192;BC042673;NR_038878 miscrna 43688 VALIDATED 6480348 LINC00565 long intergenic non-protein coding RNA 565 13 q34 114629487 114631964 - 14702039 100861555 ABBA01015945;AK092053;AMYH01005406;BQ576193;BX072579;NR_047495 Hs.353773 miscrna ENSG00000260910 43709 VALIDATED 6480350 LINC00554 long intergenic non-protein coding RNA 554 q32.3 12477932 100861542 AL355338;BC068276 Hs.508571 1737435 D13S1001 miscrna 43697 6480815 LINC00568 long intergenic non-protein coding RNA 568 1 150488233 150490508 + 20887892 100874054 ABBA01049347;AL356356;AL713297;AMYH01001377;NR_051960 Hs.576460 ncRNA-a1 miscrna ENSG00000228126 43713 VALIDATED 6480818 LINC00570 long intergenic non-protein coding RNA 570 2 11534107 11543203 + 20887892 100874055 ABBA01015648;ABBA01015649;AC099344;AI217162;AMYH01010113;BX102688;NR_047499 Hs.102428 ncRNA-a5 miscrna ENSG00000224177 43717 VALIDATED 6480819 LINC00571 long intergenic non-protein coding RNA 571 13 38624954 38717369 - 10737800 100874188 ABBA01021327;ABBA01021328;AL137245;AMYH01005043;BM023585;NR_047500 Hs.569249 miscrna ENSG00000223685 43721 VALIDATED 5687831 LINC00572 long intergenic non-protein coding RNA 572 q12.3 100861573 AL139188;BC039674 Hs.585619 miscrna 43722 6481144 LINC00559 long intergenic non-protein coding RNA 559 13 90712501 90771971 - 12477932 100874187 ABBA01027252;ABBA01027253;AL442126;AMYH01005282;BC043442;NR_047489 Hs.564526;Hs.743194 miscrna ENSG00000261446 43703 VALIDATED 6480351 LINC00560 long intergenic non-protein coding RNA 560 q31.2 12477932 100861553 AL445984;BC043278 Hs.560132 miscrna 43704 6480353 LINC00561 long intergenic non-protein coding RNA 561 q22.2 12477932 100861545 AL359392;BC034981 Hs.638962 miscrna 43705 6480355 LINC00558 long intergenic non-protein coding RNA 558 13 q14.3 54389554 54450254 + 12477932;20889312 100861552 ABBA01037055;AL390722;AL445225;AMYH01005130;BC041877;NR_047488 Hs.224691 miscrna ENSG00000261517 43702 VALIDATED 1342528 LINC00575 long intergenic non-protein coding RNA 575 4 4 4 q21.3 80825291 80833615 - 83753290 83761614 - 83534266 83542590 - 15218245 439934 Q6W349 ABBA01063438;AC067942;AC073413;AMYH01014355;AY316301;AY316302;CH471057;NR_024087;NR_024088 AAR08267;AAR08268;EAX05900;EAX05901;Q6W349 Hs.457189 1674646;1762787;2154293 SHGC-146569;SHGC-31308;SHGC-50348 C4orf11 APPROVED miscrna ENSG00000231782 21342 PREDICTED 6480858 LINC00581 long intergenic non-protein coding RNA 581 p22.3 22245136 100874531 AA910749;BX118339;NR_103790 Hs.738315 miscrna 43840 VALIDATED 6480840 LINC00582 long intergenic non-protein coding RNA 582 1 q42.2 231727038 231747836 - 100287814 ABBA01033041;ABBA01033042;AI820788;AL626763;AMYH01001819;AW207115;BX092370;CH471098;NR_034037 EAW69965 Hs.25555 1658531;2122334 A008K14;RH45079 miscrna ENSG00000229228 43842 VALIDATED 5489087 LINC00577 long intergenic non-protein coding RNA 577 6 q21 105384169 105388402 - 100113403 ABBA01014403;AL135911;AL357315;AMYH01016559;BF223582;NR_046407 Hs.649249 C6orf220;dJ439I14.1 chromosome 6 open reading frame 220 APPROVED miscrna ENSG00000203809 21553 VALIDATED 5132190 LINC00583 long intergenic non-protein coding RNA 583 9 p23 13927970 13945606 + 11181995;19240061 100113404 B1ANN4 ABBA01065307;ABBA01065308;AI286110;AL360089;AL691508;AMYH01019236;AW070422;CH471071;NR_038194 EAW58702 Hs.149786 C9orf146 APPROVED miscrna ENSG00000205636 31437 PREDICTED 6480387 LINC00578 long intergenic non-protein coding RNA 578 3 177159709 177470492 + 20038947;16344560;23291589 100505566 ABBA01058566;ABBA01058567;ABBA01058568;ABBA01058569;ABBA01058570;ABBA01058571;ABBA01058572;AC026311;AC026325;AC026355;AC112136;AI792089;AMYH01013678;BX101293;DB235147;NR_047568 Hs.581170 1334573;1341366;1642898;1661972;1713847;1721019;1751709;1784738;2179921 D3S1754;D3S2381;D3S3096;D3S3511;D3S3715;G59491;RH120812;SHGC-105734;SHGC-154073 miscrna 43807 VALIDATED 6480354 LINC00564 long intergenic non-protein coding RNA 564 q31.1 12477932 100861546 AL596085;BC039360 Hs.539621 miscrna 43708 6480352 LINC00566 long intergenic non-protein coding RNA 566 q12.12 12477932 100861547 AL359736;AL359763;BC038727 Hs.585625 miscrna 43710 6482930 LINC00594 long intergenic non-protein coding RNA 594 q15.1 641314 AI278850 Hs.525794 C15orf36 long intergenic non-protein coding RNA 594 protein-coding 32358 1344061 LINC00595 long intergenic non-protein coding RNA 595 q22.3 16341674 414243 AA256890;BQ070817;BQ082446 Hs.55047 C10orf101 long intergenic non-protein coding RNA 595 APPROVED protein-coding 31430 1346815 LINC00596 long intergenic non-protein coding RNA 596 14 14 14 q11.2 4254157 4266413 - 23461296 23473617 - 24391456 24403777 - 414767 Q86U02 AL136419;BX161431;NR_024081 CAD61903;Q86U02 2169379 D14S921 C14orf165;CNSLT1I7G APPROVED miscrna 23167 18533 1602606 LINC00589 long intergenic non-protein coding RNA 589 8 8 p12 28538481 28565284 - 29578775 29605625 - 12477932 619351 Q9BTQ3 ABBA01005625;AC069181;AC137741;AMYH01018615;BC003524;BC014230;NR_026765 AAH03524 Hs.566911 1734128;2112308 D8S1219;D8S2271 C8orf75 APPROVED miscrna ENSG00000251191 32299 PREDICTED 1351537 LINC00587 long intergenic non-protein coding RNA 587 q31.1 12477932;11181995 414319 B1AMM8 AL354701;AL442644;BC038565;CH471105;NR_103830 B1AMM8;EAW58965 Hs.385790 C9orf107;bA785H23.1 APPROVED miscrna 31372 VALIDATED 1606806 LINC00588 long intergenic non-protein coding RNA 588 8 8 8 q12.1 54185577 54190765 + 58354704 58355653 + 58192102 58197290 + 6480464 12477932;11230166 26138 Q9Y4M8 ABBA01041779;AC025674;AL080200;AMYH01018741;BC125038;CH471068;NR_026772 CAB45772;EAW86797;Q9Y4M8 Hs.159352 C8orf71;DKFZp434F122 APPROVED miscrna ENSG00000215117 24494 PREDICTED 6482877 LINC00598 long intergenic non-protein coding RNA 598 13 q14.11 40921269 41055143 - 12764377;23128233;20889312;21297633 646982 Q8NEU3 ABBA01021297;ABBA01021298;ABBA01021299;AK025090;AL391724;AL445143;AMYH01005053;AMYH01005054;AY116214;AY116215;AY116216;NR_024505;NR_024506;NR_024507 AAM97780;AAM97781;AAM97782 Hs.287664 1670153;1683102;1733292;1749609;1779446;5015861;7185938 D10S16;D13S648;RH70375;RH93071;SHGC-111293;SHGC-153427 FLJ21437;TTL miscrna 42770 VALIDATED 7175175 LINC00601 long intergenic non-protein coding RNA 601 q26.2 101101772 AL589787;BF215388;NR_073453 miscrna ENSG00000235180 43916 VALIDATED 6482980 LINC00592 long intergenic non-protein coding RNA 592 12 q13.13 52604714 52617597 + 12477932 283404 ABBA01031628;AC021066;AMYH01004471;BC039104;NR_027358 Hs.662443 1336494 D12S297 miscrna 27474 PREDICTED 1603141 LINC00593 long intergenic non-protein coding RNA 593 15 15 15 q23 47016994 47024730 + 70127573 70135306 + 70127573 70135306 + 12477932 414926 ABBA01038764;ABBA01038765;AC021818;AMYH01006743;BC031958;NR_026764 Hs.569502 C15orf50;MGC42951 APPROVED miscrna ENSG00000259703 32382 PREDICTED 6769001 LINC00606 long intergenic non-protein coding RNA 606 3 p25.3 10801169 10805877 - 14702039 285370 ABBA01025231;AC018495;AI494446;AK093398;AMYH01012970;NR_027102 Hs.157613 miscrna ENSG00000226567 43931 PREDICTED 6482932 LINC00599 long intergenic non-protein coding RNA 599 8 p23.1 9757574 9760839 - 14702039;15146197;16344560;8619474;9110174 157627 ABBA01026897;AC055869;AF052108;AK055056;AK091593;AL832535;AMYH01018472;BC042097;CN430287;DA113430;DA155571;NR_024281 Hs.12513 1656459;1657503;1711414;1789054;2116928;2129438;2141829;2147241;5090966;5092964 A009D10;G32440;G42191;G65662;IB1679;RH78832;SHGC-31177;STS-AA001426;STS-H56495;WI-20494 Rncr3 miscrna ENSG00000253230 27231 VALIDATED 7175177 LINC00609 long intergenic non-protein coding RNA 609 q13.2-q13.3 101101773 AL133304;AL162511;DN993271;NR_073454 Hs.640678 miscrna ENSG00000257585 43960 VALIDATED 1345612 LINC00574 long intergenic non-protein coding RNA 574 6 6 6 q27 170899952 170912752 + 169942955 169943341 + 170190169 170202969 + 16344560;15489334;14702039;14574404;12477932 80069 Q9H8X3 ABBA01016120;AK023224;AL049612;AL354892;AMYH01016879;BC101251;BC101252;BC101253;BC101396;CH471051;DA918406;NR_026780 BAB14475;EAW47434;Q9H8X3 Hs.677182 5015619;5022322 D11S2560;D11S3114 C6orf208;FLJ13162;MGC120218;RP1-266L20.3;dJ182D15.1 APPROVED miscrna ENSG00000231690 21598 12876 VALIDATED 6769610 LINC00607 long intergenic non-protein coding RNA 607 2 q35 216476286 216708259 - 14702039 646324 ABBA01062796;ABBA01062797;ABBA01062798;ABBA01062799;ABBA01062800;AC012668;AC093850;AC122136;AK091865;AK124897;AMYH01011488;NR_037195 Hs.655713 1342156;1674583;1722541;1727319;1749521;1756535;1760719;1777090;2124578;2143604;5037552;5093778 D2S2361;D8S2279;G32917;G60197;G63067;RH78890;SHGC-111225;SHGC-143565;SHGC-144248;SHGC-33388;STS-AA035344;STS-T95030 miscrna ENSG00000235770 43944 VALIDATED 6484192 LINC00613 long intergenic non-protein coding RNA 613 4 136788138 136834835 - 11329013 100507528 ABBA01044894;AC104136;AC105362;AMYH01014550;AW237894;BG204498;BG220241;NR_103762;NR_103763;XR_109835;XR_133375;XR_171468 Hs.518987;Hs.730081 1726753 G62764 miscrna ENSG00000248330 44060 VALIDATED 1602615 LINC00615 long intergenic non-protein coding RNA 615 12 12 12 q21.33 90982930 91013575 + 89835931 89866577 + 91311800 91342446 + 439916 Q96LM1 ABBA01053409;AC078873;AC123024;AC123025;AK058107;AMYH01004652;NR_038868 BAB71669;Q96LM1 Hs.350600 1746615 G64429 C12orf37;FLJ25378 APPROVED miscrna ENSG00000196243 26343 VALIDATED 1349008 LINC00614 long intergenic non-protein coding RNA 614 10 10 p12.1 27295734 27300833 - 27295734 27300833 - 15164054;14702039;16344560 645587 P0C842 AL044322;AL365501;DB025290;XM_928603 P0C842;XP_933696 C10orf52;FLJ35853 Putative uncharacterized protein C10orf52;chromosome 10 open reading frame 52;long intergenic non-protein coding RNA 614 APPROVED miscrna ENSG00000236983 30165 6769317 LINC00605 long intergenic non-protein coding RNA 605 14 q32.32 103653558 103655365 - 12477932 100131366 ABBA01048434;AL161669;AMYH01006043;BC035396;BX161461;NR_033938 CAD61922 Hs.147881 miscrna ENSG00000251533 43928 VALIDATED 1350937 LINC00618 long intergenic non-protein coding RNA 618 q32.31 8889549 145249 AA055628 Hs.592323 C14orf63 long intergenic non-protein coding RNA 618 APPROVED miscrna 20110 1348126 LINC00597 long intergenic non-protein coding RNA 597 15 15 15 q23-q24 54454374 54455885 - 75303289 75304463 - 77516235 77517746 - 6480464 15489334;12477932;11697146 81698 Q9H2U6 ABBA01060563;AC087465;AF216224;AL109679;AMYH01006827;BC069765;BC103988;BC103989;BC103990;BC103991;CH471136;NR_026813 AAG44088;CAB52019;EAW99205;Q9H2U6 Hs.656938 2141515;5493545 UniSTS:487126;WI-17323 C15orf5;MGC120146;MGC120147;MGC120148;MGC120149 APPROVED miscrna 1193 12672 VALIDATED 1602791 LINC00602 long intergenic non-protein coding RNA 602 6 6 6 q27 167140577 167142641 + 166321029 166323092 + 166401039 166403103 + 14702039;12477932;20800603 441177 Q8N9P0 ABBA01015078;AK094116;AL132661;AMYH01016845;BC110806;NR_027284 BAC04291;Q8N9P0 Hs.708964 MGC131672 APPROVED miscrna 43917 18645 VALIDATED 6771241 LINC00620 long intergenic non-protein coding RNA 620 3 p25.1 13692221 13788132 + 23092984;23478628;21368711 285375 ABBA01025168;ABBA01025169;AC090509;AC093611;AMYH01012995;BC039529;NR_027103 Hs.319969 1335788;1731355;2139616 D3S100;D3S3608;WI-10346 miscrna ENSG00000224514 44223 PREDICTED 6484644 LINC00617 long intergenic non-protein coding RNA 617 14 96343109 96391908 + 14702039;16344560;22196729 100507043 ABBA01048600;AK023027;AK091547;AL133167;AMYH01005976;BC016484;DA412350;NR_038861 Hs.455955 1726711;1849321;1849323;2136634 A001Y25;G19786;G62743;RH44545 miscrna ENSG00000250366 44088 VALIDATED 6769829 LINC00608 long intergenic non-protein coding RNA 608 2 q35 219841006 219842644 + 12477932;22542470 151300 ABBA01023853;AC097468;AI125183;AK098539;AMYH01011500;BC033552;BC049373;BC121084;BC121085;CH471063;NR_015390;NR_024385 EAW70663 Hs.420716 5015961;5016596;5016781;5022578;5037552;5109281;5120437 D15S1477;D1S1423;D1S1425;D8S2279;GDB:315881;GDB:631802;SHGC-67307 miscrna 27179 VALIDATED 6777744 LINC00621 long intergenic non-protein coding RNA 621 q12.12 14702039 100996930 AK091626 Hs.380803 5015621;5037552 D11S3732;D8S2279 miscrna 44227 6484073 LINC00616 long intergenic non-protein coding RNA 616 4 q28.3 138948576 139051839 - 12477932 641365 ABBA01044911;ABBA01044912;ABBA01044913;AC097511;AC105310;AMYH01014558;BC042886;NR_037866 Hs.435630 1674394;2164832 D4S1139;SHGC-51032 miscrna ENSG00000248307 44065 VALIDATED 1344034 LINC00619 long intergenic non-protein coding RNA 619 10 10 10 q11.21 40344330 40349646 + 43660766 43666076 + 44340754 44346070 + 12477932;17634449 414260 Q5W0B8 ABBA01050014;AL139237;AMYH01002293;AMYH01002294;BC017939;NR_033923 Q5W0B8 Hs.351856 C10orf136;bA168P8.1 APPROVED miscrna ENSG00000204187 31657 VALIDATED 4108161 LINC00612 long intergenic non-protein coding RNA 612 12 12 12 p13.31 10745541 10754795 - 9099452 9108933 - 9208185 9217666 - 6480464 12477932;15489334 253128 Q8N6U2 ABBA01012257;AC007436;AK123808;AMYH01004243;BC028195;CH471116;NR_034140 AAH28195;BAG53963;EAW88592;Q8N6U2 Hs.408739 C12orf33;FLJ41814;MGC40170 APPROVED miscrna ENSG00000214851 28621 PREDICTED 6893158 LINC00629 long intergenic non-protein coding RNA 629 X 133684054 133694428 + 10737800;14702039 100506757 ABBA01042455;ABBA01042456;AC004383;AK022994;AMYH01022993;NR_038998 Hs.130961 1694116;1748193;1787244 AL035144;G66695;SHGC-132957 miscrna 44262 VALIDATED 6892971 LINC00633 long intergenic non-protein coding RNA 633 X q26.3 134252881 134254405 - 100129515 ABBA01050053;AC234771;AI015085;AL590325;AMYH01022998;AY730280;NR_033941 AAW56973 Hs.522790 5019120 RH102075 miscrna ENSG00000224107 44269 VALIDATED 6781867 LINC00623 long intergenic non-protein coding RNA 623 1 q21.1 144300512 144340773 - 12477932 728855 AC242842;AC243772;AK311378;AMYH01000981;BC009950;BC021732;BC061517;BC063535;BC073170;BC094809;BX248398;NR_024510;NR_024511 Hs.456578 5015567;5106900 D1S3595;G34841 miscrna ENSG00000235398 44252 VALIDATED 6776596 LINC00626 long intergenic non-protein coding RNA 626 1 q24.2 168756179 168762126 + 12477932 79100 ABBA01027957;AL031275;AMYH01001488;BC001515;BC001841;BC009319;BC068047;BC082964;NR_024160 Hs.250624 miscrna ENSG00000225826 44257 VALIDATED 6778972 LINC00622 long intergenic non-protein coding RNA 622 1 p12 120140325 120141914 - 12477932;14702039 644242 AI791995;AK123168;AL109966;AMYH01000979;BC015390;BQ433915;NR_036540 AAH15390 Hs.515383 miscrna ENSG00000260941 44251 VALIDATED 6778362 LINC00624 long intergenic non-protein coding RNA 624 1 q21.1 146853914 146989699 - 12477932;18464913 100289211 ABBA01004399;ABBA01004400;ABBA01004401;AC242425;AC242628;AL391904;AL590667;AMYH01001225;BC036212;BC048126;NR_038423 Hs.323484 1660365;1693450;1696654 SHGC-58830;SHGC-60299;SHGC-82962 miscrna 44254 VALIDATED 6784183 LINC00628 long intergenic non-protein coding RNA 628 1 q32.1 204337558 204338847 - 12477932 127841 ABBA01027447;AL606489;AMYH01001662;BC015457;NR_027022 Hs.213144 miscrna 27008 VALIDATED 6893037 LINC00630 long intergenic non-protein coding RNA 630 X q22.1 102024095 102140338 + 12477932;16344560 100287765 AA679735;ABBA01020969;ABBA01020970;ABBA01020971;ABBA01020972;ABBA01020973;ABBA01020974;ABBA01020975;ABBA01020976;ABBA01020977;ABBA01020978;ABBA01020979;ABBA01020980;ABBA01020981;ABBA01020982;ABBA01020983;ABBA01020984;AL035427;AL590407;AMYH01022792;AMYH01022793;AMYH01022794;BC032741;BC040959;DA332880;NR_038988;Z68871 Hs.687084 1683677;1856661;2127750;2177756 A008Q11;DXS7692;L47999;RH93084 miscrna ENSG00000223546 44263 VALIDATED 6892749 LINC00635 long intergenic non-protein coding RNA 635 3 q13.12 107560509 107596915 - 12477932 151658 ABBA01061708;AC117477;AMYH01013380;BC039365;BC045586;BC101990;BC101991;BC104745;BC104746;BC113056;BC113057;DB527077;NR_015414;NR_024276 Hs.159043 1682469;1767849 RH93695;SHGC-14920 miscrna ENSG00000241469 27184 VALIDATED 6892816 LINC00634 long intergenic non-protein coding RNA 634 22 q13.2 42348191 42354946 + 12477932;15461802 339674 Q6ICG7 ABBA01055657;AMYH01012807;BC040153;BC068568;CR456401;NR_024355;Z99716 CAG30287;Q6ICG7 Hs.517656 BK250D10.8 miscrna ENSG00000205704 27930 VALIDATED 6892886 LINC00640 long intergenic non-protein coding RNA 640 14 q22.1 51800111 51832275 + 11329013 283553 ABBA01018152;AL358332;AMYH01005726;BG198945;BG220842;BX111479;NR_038358 Hs.325752 1756429 SHGC-143414 miscrna ENSG00000258479 44291 VALIDATED 6892745 LINC00637 long intergenic non-protein coding RNA 637 14 q32.33 104314058 104324386 + 12477932 145216 G3V436 ABBA01048401;AK057986;AL132712;AMYH01006053;BC112204;BC112206;NR_038436 Hs.578091 5015861;5015961;5020948;5037552;7185938 D10S16;D15S1477;D8S2279;G35510 miscrna ENSG00000258735 27069 VALIDATED 6893141 LINC00645 long intergenic non-protein coding RNA 645 14 28081794 28108842 + 100505967 ABBA01061369;AL390894;AMYH01005625;BC042069;BX538073;BX538140;NR_039992 Hs.668484 miscrna ENSG00000258548 44299 VALIDATED 6892845 LINC00638 long intergenic non-protein coding RNA 638 14 q32.33 105287538 105290055 + 12477932;14702039 196872 ABBA01008842;AK095404;AK292179;AL590326;AMYH01006066;BC015579;BC041036;CH471061;NR_024396 BAF84868;EAW81884 Hs.352220 miscrna ENSG00000258701 28325 VALIDATED 6892848 LINC00636 long intergenic non-protein coding RNA 636 3 q13.12 107602052 107647754 + 12477932;14702039 285205 F2Z3F9 ABBA01061707;ABBA01061708;AC027296;AC117477;AK127985;AMYH01013380;BC039517;BC101228;BC101229;BC101230;BC101231;NR_015394 Hs.134882;Hs.737218 1727651 G63238 miscrna ENSG00000240423 27702 VALIDATED 6893025 LINC00651 long intergenic non-protein coding RNA 651 20 q13 48657244 48658166 - 20887892 100887755 ABBA01052768;AI654216;AI968488;AL121712;AMYH01011971;BX118093;NR_051976 Hs.195705 miscrna 44307 VALIDATED 6892879 LINC00639 long intergenic non-protein coding RNA 639 14 q21.1 39218543 39386086 - 12477932 283547 ABBA01061540;ABBA01061541;AK125018;AK127318;AL132994;AL359950;AL391694;AMYH01005682;BC035119;BC113646;BC113672;NR_039982 Hs.675941 1851152;2141213 D14S1428;G35463 miscrna ENSG00000259070 27502 VALIDATED 6893153 LINC00648 long intergenic non-protein coding RNA 648 14 48234156 48264217 - 14702039 100506433 ABBA01018096;AK056212;AK056240;AL162551;AMYH01005707;CA435241;NR_039996 Hs.547419 1667643;2128197;2172452;5093728 G32889;G36242;RH66200;SHGC-34775 miscrna ENSG00000259129 44302 VALIDATED 6893148 LINC00649 long intergenic non-protein coding RNA 649 21 35303516 35343487 + 16344560 100506334 ABBA01057363;AK311545;AL532366;AMYH01012213;AP000314;AP000569;DA374118;NR_038883 Hs.532855 1340227;1798672;1801024;1801912;1804192;1807020;1807274;1808732;1817280;1817728;1819644;1821186;1823120;1824088;1826956;1826958;1835256;1836584;1837300;1837810;1838422;1838528;1839526;1841324;1841436;1841490;1841976;1843270;1845018;1845652;2032510;2032512;2032514;2032516;2032518;2032520;2032522;2032524;2032526;2032528;2032530;2032532;2032534;2032536;2032538;2032540;2032542;2032544;2032546;2032550;2032552;2032554;2032556;2032558;2032560;2032562;2032566;2032568;2032570;2032572;2032574;2032576;2032578;2032580;2032584;2032586;2032588;2032590;2032592;2032594;2032596;2032598;2032600;2032602;2032604;2032606;2032608;2032610;2032612;2032614;2032616;2032618;2032620;2032624;2032626;2032628;2032630;2032632;2032634;2032636;2032640;2032642;2032644;2032646;2032648;2032650;2032652;2032654;2032658;2032660;2032662;2032664;2032666;2032668;2032670;2032674;2032676;2032678;2032680;2032682;2032684;2032686;2032688;2032690;2032692;2032694;2032696;2032700;2032702;2032704;2032706;2032708;2032710;2032712;2032716;2032718;2032720;2032722;2032724;2032726;2032728;2032732;2032736;2032738;2032740;2032742;2032744;2032746;2032750;2032752;2032754;2032756;2032758;2032760;2032762;2032764;2032766;2032768;2032770;2032772;2032774;2032776;2032778;2032780;2032782;2032784;2032786;2032788;2032790;2032792;2032794;2032796;2032798;2032800;2032802;2032806;2032808;2032810;2032812;2032814;2032816;2032818;2032820;2032822;2032826;2032828;2032830;2032832;2032834;2032836;2032838;2032842;2032844;2032846;2032848 D1S2782;ECD00176;ECD01378;ECD01837;ECD03016;ECD04475;ECD04605;ECD05348;ECD09690;ECD09917;ECD10889;ECD11670;ECD12648;ECD13140;ECD14593;ECD14594;ECD18783;ECD19456;ECD19817;ECD20075;ECD20385;ECD20438;ECD20945;ECD21858;ECD21914;ECD21941;ECD22191;ECD22843;ECD23725;ECD24044;REN87262;REN87263;REN87264;REN87265;REN87266;REN87267;REN87268;REN87269;REN87270;REN87271;REN87272;REN87273;REN87274;REN87275;REN87276;REN87277;REN87278;REN87279;REN87280;REN87282;REN87283;REN87284;REN87285;REN87286;REN87287;REN87288;REN87290;REN87291;REN87292;REN87293;REN87294;REN87295;REN87296;REN87297;REN87299;REN87300;REN87301;REN87302;REN87303;REN87304;REN87305;REN87306;REN87307;REN87308;REN87309;REN87310;REN87311;REN87312;REN87313;REN87314;REN87315;REN87316;REN87317;REN87319;REN87320;REN87321;REN87322;REN87323;REN87324;REN87325;REN87327;REN87328;REN87329;REN87330;REN87331;REN87332;REN87333;REN87334;REN87336;REN87337;REN87338;REN87339;REN87340;REN87341;REN87342;REN87344;REN87345;REN87346;REN87347;REN87348;REN87349;REN87350;REN87351;REN87352;REN87353;REN87354;REN87355;REN87357;REN87358;REN87359;REN87360;REN87361;REN87362;REN87363;REN87365;REN87366;REN87367;REN87368;REN87369;REN87370;REN87371;REN87373;REN87375;REN87376;REN87377;REN87378;REN87379;REN87380;REN87382;REN87383;REN87384;REN87385;REN87386;REN87387;REN87388;REN87389;REN87390;REN87391;REN87392;REN87393;REN87394;REN87395;REN87396;REN87397;REN87398;REN87399;REN87400;REN87401;REN87402;REN87403;REN87404;REN87405;REN87406;REN87407;REN87408;REN87410;REN87411;REN87412;REN87413;REN87414;REN87415;REN87416;REN87417;REN87418;REN87420;REN87421;REN87422;REN87423;REN87424;REN87425;REN87426;REN87428;REN87429;REN87430;REN87431 miscrna ENSG00000237945 44305 VALIDATED 6892810 LINC00643 long intergenic non-protein coding RNA 643 14 q23.2 62584075 62600904 + 12477932;14702039 646113 Q86TS7 ABBA01018306;AK094533;AK096461;AK125380;AK311468;AL390816;AMYH01005779;BC047065;BC132999;BC133001;BX248751;NR_015358 CAD66558;Q86TS7 Hs.445241 1681062;1723177;1736468;2135945 D14S719E;RH118420;RH47362;RH93124 miscrna 44296 VALIDATED 6892824 LINC00642 long intergenic non-protein coding RNA 642 14 q32.12 90921574 90925249 + 12477932;14702039 400238 ABBA01030501;AK093266;AL096869;AMYH01005946;BC036259;BX101323;NR_033986 Hs.131037 miscrna ENSG00000233208 44293 VALIDATED 6892896 LINC00641 long intergenic non-protein coding RNA 641 14 q11.2 21668238 21675059 - 12477932;14702039;16344560 283624 ABBA01061240;AK092333;AK093962;AL135744;AL157687;AMYH01005594;BC035145;BX537733;DA323457;NR_038970;NR_038971 Hs.525210 1675118;2185305 RH69515;RH69598 miscrna ENSG00000258441 27511 VALIDATED 6892865 LINC00654 long intergenic non-protein coding RNA 654 20 p12.3 5479218 5485242 - 12477932;19204726 149837 ABBA01053880;AK289970;AK291486;AK292266;AL109935;AL137476;AMYH01011694;BC067900;BC117492;BC117494;NR_015406 BAF82659;BAF84175;BAF84955 Hs.123609;Hs.709473 2118424;2183996 A008V36;RH12029 miscrna 27154 VALIDATED 4108223 LINC00656 long intergenic non-protein coding RNA 656 20 20 20 p11.21 23179076 23186646 - 23054627 23054911 - 23105705 23113273 - 12477932;16344560 200261 Q8WY72 ABBA01016174;AF258576;AL118508;AMYH01011775;BC117361;CA748604;CH471133;DA864592;NR_034149 AAG23779;AAI17362;EAX10167 Hs.352228 1775120;2220612 UniSTS:485803;Z94530 APPROVED miscrna ENSG00000233746 27304 14124 VALIDATED 2303690 LINC00652 long intergenic non-protein coding RNA 652 20 20 20 p11.23 18842898 18849505 - 18720403 18720692 - 18768615 18775228 - 6480464 16344560;14702039;12477932;11042152 29075 Q9NZW7 ABBA01054055;AF161557;AK094606;AL035563;AMYH01011745;BC029555;BC102038;BC102039;BC102040;CH471133;DA760399;DB097906;NR_026883;NR_026884 AAF29044;EAX10225;EAX10226 Hs.584899 1688602;2115280 RH68013;RH93547 HSPC072 APPROVED miscrna ENSG00000179935 25003 13693 VALIDATED 6892893 LINC00657 long intergenic non-protein coding RNA 657 20 q11.23 34633540 34638882 - 12477932;14702039 647979 ABBA01019130;AI619767;AK090641;AL035420;AMYH01011877;BC011592;NR_027451 Hs.743232 1777173 RH11841 miscrna ENSG00000260032 44311 VALIDATED 7244844 LINC00664 long intergenic non-protein coding RNA 664 14702039;19207018 400680 ABBA01051378;AC010615;AK097381;AMYH01009634;BC040866;BX537835;NR_037194 Hs.710554 1331567;5020740;5037552;5109281;7184802 D18S21;D19S215;D1S1425;D8S2279;L17809 miscrna ENSG00000268658 44319 VALIDATED 2303664 LINC00661 long intergenic non-protein coding RNA 661 19 19 19 p13.12 16025874 16037703 + 15997468 15998016 + 16126444 16138272 + 12477932;11441184;16751776 126536 Q6ZRG2 ABBA01051127;AC004790;AI184190;AK128240;AMYH01009558;BC043535;BC117476;BC128560;BC144048;CR749400;DQ574520;DQ574656;DQ579909;DQ579910;DQ580536;DQ585852;DQ586879;DQ591119;NR_026828 BAC87348 Hs.131824 1699772 RH103492 DKFZp434N1114;DKFZp686O2439 APPROVED miscrna ENSG00000205396 27002 18725 VALIDATED 6893101 LINC00659 long intergenic non-protein coding RNA 659 20 61405473 61408208 - 12477932;16341674;16344560 100652730 ABBA01021369;AL035669;AMYH01012059;BC127851;BC127852;BM850706;DA633805;DB320598;NR_046224;NR_046225 Hs.254951 miscrna 44316 VALIDATED 6893203 LINC00658 long intergenic non-protein coding RNA 658 20 5412603 5426394 - 12477932 100507629 AA983844;ABBA01053880;AL121757;AMYH01011692;BC035192;BC048109;NR_038239;NR_038240 Hs.121383 miscrna ENSG00000226995 44315 VALIDATED 6893053 LINC00662 long intergenic non-protein coding RNA 662 19 q11 28281401 28284848 - 12477932;14702039 148189 ABBA01039519;AC006504;AK055559;AK311452;AMYH01009663;BC045720;NR_027301 Hs.706547 5015619 D11S3114 miscrna ENSG00000261824 27122 VALIDATED 6893164 LINC00665 long intergenic non-protein coding RNA 665 19 q13.12 36803963 36822620 - 12477932;14702039 100506930 ABBA01016208;AC092296;AI282277;AK090827;AMYH01009750;BC041949;BU071001;NR_038278;NR_038279 Hs.595153 1679259;1681002;1731369;2172162;5016700;7184802 D18S21;RH79802;RH91190;RH93026;STS-N95430 miscrna ENSG00000232677 44323 VALIDATED 6893089 LINC00667 long intergenic non-protein coding RNA 667 18 p11.31 5238099 5246507 + 12477932;14702039;8619474;9110174 339290 ABBA01049876;AMYH01008784;AP001496;BC027873;BC119664;BC119665;NR_015389 AAI19666 Hs.643553;Hs.727464 1339551;1652823;1664085;1719737;1720961;1739197;1772885;1851819;2141333;2161827;2170294;2184244;5092822;5109563 A003M05;A004A03;A006G41;D18S1014;D18S915E;D7S509;G32351;G59310;RH123559;RH78881;SHGC-32059;SHGC-36686;WI-18527;WI-21034 miscrna ENSG00000263753 27906 VALIDATED 6892982 LINC00663 long intergenic non-protein coding RNA 663 19 p13.11 19867180 19887222 - 21832049;12477932;14702039;16189514;16344560;21509594 284440 ABBA01051339;ABBA01051340;ABBA01051341;AC011477;AK022418;AK289657;AMYH01009610;BC034236;BC037856;CH471106;DB196080;NR_026956 BAF82346;EAW84859 Hs.665307 1645541;2178863;5016700;5037552;5109281 D1S1425;D8S2279;G12418;G30605;RH79802 miscrna 28609 VALIDATED 6893076 LINC00668 long intergenic non-protein coding RNA 668 18 p11.31 6925473 6929868 - 12477932;14702039 400643 ABBA01049901;AK095347;AK097613;AMYH01008789;AP005210;BC035413;CH471113;NR_034100 EAX01632 Hs.253920 miscrna ENSG00000265933 44328 VALIDATED 6893232 LINC00673 long intergenic non-protein coding RNA 673 17 70399463 70588943 - 8889548 100499467 ABBA01028887;ABBA01028888;ABBA01028889;ABBA01028890;ABBA01028891;AC006948;AC007639;AK000477;AK129763;AMYH01008611;CB241259;NR_036488 Hs.157726 1336523;1337345;1688781;1700948;1713083;1715051;1719039;5015619;5022651;5037552 D11S2921;D11S3114;D17S1797;D17S1826;D8S2279;RH104101;RH119477;RH120329;RH123226;RH92447 miscrna 44354 VALIDATED 7242857 LINC00676 long intergenic non-protein coding RNA 676 q34 10737800 101409253 AL162497;AW816149;CV353881;NR_103846 Hs.578072 miscrna 44394 VALIDATED 1346717 LINC00677 long intergenic non-protein coding RNA 677 q32.33 254299 AW182802 Hs.252904 C14orf74 chromosome 14 open reading frame 74;long intergenic non-protein coding RNA 677 APPROVED miscrna 20121 7243075 LINC00678 long intergenic non-protein coding RNA 678 15146197 101410541 AC104563;CD049147;CD049808;CD176172;CN283585;NR_102708 1725223;5022383 ECD04345;RH118904 miscrna 44413 VALIDATED 4108252 LINC00670 long intergenic non-protein coding RNA 670 17 17 p12 12478677 12565885 + 12453285 12540504 + 12477932;14702039;16344560 284034 Q8NAV9 ABBA01055003;ABBA01055004;ABBA01055005;ABBA01055006;AC005358;AC006079;AC068442;AK092009;AMYH01008118;BC122562;BC122870;DB255288;NR_034144;NR_034145 BAC03788 Hs.376614 1647812;1719727 D17S1311;RH123553 APPROVED miscrna ENSG00000179136 44338 08176 VALIDATED 6893070 LINC00669 long intergenic non-protein coding RNA 669 18 q12.2-q12.3 36786888 37331959 - 11329013;12477932;14702039;16344560;23251661 647946 ABBA01022392;ABBA01022393;ABBA01022394;ABBA01022395;ABBA01022396;ABBA01022397;ABBA01022398;ABBA01022399;ABBA01022400;ABBA01022401;ABBA01022402;AC011139;AC016205;AC090459;AC099845;AC105201;AK090603;AMYH01008947;AMYH01008948;AMYH01008949;BC035184;BG220862;DB038664;NR_024391 Hs.649350 1680859;1688646;1705062;1706376;1712813;1718363;1720457;1723347;1728517;1776115;2081030;2142047;2153296 D18S1322;D18S840;G09473;G59181;G63696;REN111723;RH118490;RH120122;RH122954;RH98591;RH99208;SHGC-78051;SHGC-80757 miscrna ENSG00000267374 44332 VALIDATED 7242888 LINC00681 long intergenic non-protein coding RNA 681 8889548 101409254 BM678210;BM725196;NR_102423 Hs.571476 miscrna 44423 VALIDATED 6892966 LINC00684 long intergenic non-protein coding RNA 684 X q13.2 72158003 72158798 + 100129407 AA393776;AA833717;ABBA01046264;AC234776;AI149821;AL353999;CH471213;NR_034116 EAW71834 Hs.512473 1697756 RH102401 DMRTC1-AS1 APPROVED miscrna ENSG00000204119 44268 VALIDATED 6907011 LINC00683 long intergenic non-protein coding RNA 683 18 q23 74327169 74337897 + 14702039 400660 ABBA01015281;ABBA01015282;AC034110;AK094957;AK127565;AMYH01009111;AMYH01009112;XR_159016;XR_159306;XR_172254 Hs.131718 1676466;1764189;1764655;5037552 D8S2279;RH92715;SHGC-147827;SHGC-148243 miscrna ENSG00000266256 44467 MODEL 1344735 LINC00686 long intergenic non-protein coding RNA 686 140865 D80415 C20orf90;bA93B14.2 hypothetical protein LOC140865;uncharacterized protein LOC140865 APPROVED miscrna 16221 2304639 LINC00671 long intergenic non-protein coding RNA 671 17 17 17 q21.31 37682763 37706884 - 38285124 38304231 - 41026691 41050751 - 14702039;12477932 388387 Q96N93 ABBA01006404;AC016889;AK055784;AK298293;AMYH01008398;BC122867;BC122868;CH471152;DC361857;NR_027254 BAB71012;BAG60551;EAW60899;EAW60900 Hs.632257 2115148;2180024 D17S1208;D17S2095 FLJ31222;MGC148166 APPROVED miscrna ENSG00000213373 44339 13404 VALIDATED 6893228 LINC00672 long intergenic non-protein coding RNA 672 17 37081421 37085637 + 12477932;14702039 100505576 ABBA01031894;AC006441;AK090935;AMYH01008370;BC009632;BC042124;BQ007373;BX114764;BY995895;NR_038847 Hs.634043 5015861;5019070;5020242;5022578;5037552;7185938 D10S16;D11S2612;D1S1423;D8S2279;G44334 miscrna 44353 VALIDATED 6893029 LINC00675 long intergenic non-protein coding RNA 675 17 p13.1-p12 10698230 10707416 - 12477932;16344560 100289255 K7ESB4 ABBA01054981;AC015908;AK024897;AMYH01008107;BC015790;BC041634;BC063383;BM924455;DA425830;NR_036581 Hs.306721 miscrna ENSG00000263429 44356 VALIDATED 6893238 LINC00674 long intergenic non-protein coding RNA 674 17 q24.2 66097696 66132070 + 12477932;14702039;16344560;16751776 100499466 ABBA01028966;ABBA01028967;AC005332;AC145343;AK091150;AK092798;BC018754;BC033765;BC045718;BC053686;BC067079;BC073783;BC094861;DA232946;DQ571807;DQ576699;DQ587552;DQ599054;DQ600898;NR_027418 Hs.591212;Hs.647405 1656315;2130895;5024658;5096633;5117206 D17S2020;GDB:451763;RH47730;RH78289;RH91767 miscrna 44355 VALIDATED 6906996 LINC00682 long intergenic non-protein coding RNA 682 p13 12477932 101056723 BC025350 Hs.611425 miscrna 44466 7175031 LINC00694 long intergenic non-protein coding RNA 694 3 44462622 44465517 - 100506301 ABBA01024745;AC134943;AMYH01013120;XR_110050;XR_133338;XR_171376 Hs.131918 miscrna ENSG00000225873 44570 MODEL 2301499 LINC00696 long intergenic non-protein coding RNA 696 3 3 3 p21.2 52075434 52078452 - 52072116 52072607 - 52096110 52099128 - 100128378 Q6ZRV3 ABBA01024514;AC115284;AK127958;AMYH01013182;NR_027331 Hs.640106 C3orf74 APPROVED miscrna 34426 VALIDATED 7174874 LINC00690 long intergenic non-protein coding RNA 690 3 p24.3 16577825 16582880 + 12477932 100996597 ABBA01025129;AC010139;AMYH01013003;BC034913;BX100558;NR_103843;XR_158992;XR_159409;XR_171367 Hs.599432 1688114 RH92092 miscrna ENSG00000233570 44503 VALIDATED 7109849 LINC00689 long intergenic non-protein coding RNA 689 7 q36.3 158801045 158818929 + 12477932;12690205 154822 AACC02000073;ABBA01032301;AC004863;AK125809;AMYH01018214;AMYH01018215;BC013024;BC024307;BC041429;BC042556;CH236954;NR_024394 EAL23934;EAL23935 Hs.544783;Hs.667767 1689765;5015861;7185938 D10S16;RH93213 miscrna ENSG00000231419 27217 VALIDATED 7174948 LINC00691 long intergenic non-protein coding RNA 691 3 p24.2 24141465 24144738 - 12477932 152024 ABBA01025032;AC098971;AMYH01013030;BC033355;BC039347;BC045572;BC121796;NR_026834 Hs.385606 miscrna ENSG00000224074 44514 PREDICTED 7176786 LINC00702 long intergenic non-protein coding RNA 702 10 4277081 4285967 - 100652988 ABBA01035211;AL133552;AMYH01001993;XR_132573;XR_159189;XR_171829 Hs.741423 miscrna 44676 MODEL 7177444 LINC00703 long intergenic non-protein coding RNA 703 10 4448661 4450976 + 100507059 ABBA01035210;AC022535;AMYH01001993;XR_109002;XR_132919;XR_171830 Hs.158438 miscrna 44677 MODEL 1602636 LINC00685 long intergenic non-protein coding RNA 685 X X;Y p22.33; Yp11.3 231385 232067 + 281385 282067 + 16344560;14702039;12477932 283981 AK023454;AL954664;AMYH01021951;BC041934;DA066179;DA521837;NR_027231;NR_027232 Hs.575741 CXYorf10;NCRNA00107;PPP2R3B-AS1 APPROVED miscrna 27560 VALIDATED 7175726 LINC00700 long intergenic non-protein coding RNA 700 10 p15.3 2047667 2056542 - 14702039 282980 ABBA01035241;AK097474;AL441943;AMYH01001977;NR_040253 Hs.576810 5024756;5109663 D7S2067E;RH80030 miscrna ENSG00000234962 27422 VALIDATED 7176796 LINC00706 long intergenic non-protein coding RNA 706 10 6816265 6821141 - 100652997 ABBA01034759;AL590637;AMYH01002009;XR_132575;XR_159194;XR_171834 Hs.255086 miscrna 44690 MODEL 7175685 LINC00704 long intergenic non-protein coding RNA 704 10 p15.1 4692377 4720262 - 23251661;20662065 100216001 ABBA01035205;AC018978;AL589165;AMYH01001994;BC048320;NR_024475 Hs.634869 1717519;2152981 RH122266;SHGC-58291 miscrna 44678 PREDICTED 7177493 LINC00708 long intergenic non-protein coding RNA 708 10 p14 8301294 8302769 - 100507143 ABBA01034722;AL357712;AMYH01002016;XR_109005;XR_132923;XR_171835 Hs.258979 miscrna ENSG00000232170 44694 MODEL 7177503 LINC00709 long intergenic non-protein coding RNA 709 10 9317576 9329076 + 100507163 ABBA01034716;AL138773;AMYH01002018;XR_109006;XR_111039;XR_171836 Hs.649223 miscrna 44700 MODEL 7174768 LINC00692 long intergenic non-protein coding RNA 692 3 p24.2 25900023 25915186 - 12477932 285326 C9JLB4 ABBA01025014;AC103588;AMYH01013037;AMYH01013038;BC033370;BC126324;BC143987;BC143998;BC143999;NR_034055 Hs.145246 miscrna ENSG00000230891 27708 VALIDATED 7205361 LINC00836 long intergenic non-protein coding RNA 836 10 25940704 25972314 + 100507531 ABBA01034427;ABBA01034428;AC018509;AMYH01002199;XR_109019;XR_111045;XR_171844 Hs.128298 miscrna 44915 MODEL 7177476 LINC00707 long intergenic non-protein coding RNA 707 10 6821560 6884868 + 14702039 100507127 ABBA01034757;ABBA01034758;ABBA01034759;AK094154;AL392086;AL590637;AMYH01002009;BM990174;NR_038291 Hs.498571 1718061 RH122648 miscrna ENSG00000238266 44691 VALIDATED 7174920 LINC00693 long intergenic non-protein coding RNA 693 3 p24.1 28616769 28799828 + 12477932;16344560;21044948 645206 AA434563;ABBA01024975;ABBA01024976;AC093412;AC109586;AMYH01013051;AW665606;BX099378;BX099784;BX333929;BX369823;CH471055;DA824547;NR_038840;R20280;R20979 EAW64402 Hs.376725;Hs.388256;Hs.644308 1337259;1655815;1667475;1714923;1721943;2151318;2161748;2161750;7185506 D3S1283;D3S4535;G59854;RH120456;RH45316;RH65615;SHGC-76787;WI-22619 miscrna 44526 VALIDATED 7175204 LINC00698 long intergenic non-protein coding RNA 698 3 p14.2 63088364 63110738 + 12477932 285401 ABBA01024325;AC104299;AMYH01013243;BC039502;BC043407;BC104474;BC104475;NR_027104 Hs.211125 miscrna ENSG00000244342 27720 PREDICTED 7207708 LINC00840 long intergenic non-protein coding RNA 840 10 44354859 44390881 + 14702039 100506835 ABBA01050014;ABBA01050015;AK054825;AL139237;AMYH01002294;NR_038268 Hs.462615 1727257;1727475 G62884;G62995 miscrna ENSG00000226808 44987 VALIDATED 7176523 LINC00701 long intergenic non-protein coding RNA 701 10 p15.3 2342513 2357268 - 12477932 399708 ABBA01035238;AL139818;AMYH01001981;BC055423;NR_038884 Hs.521270 1724975 RH120293 miscrna 44674 VALIDATED 7176425 LINC00705 long intergenic non-protein coding RNA 705 10 p15.1 4698348 4704611 + 12477932 338588 ABBA01035205;AL589165;AMYH01001994;BC040895;BC101460;BC101989;BC104742;BC129979;NR_015425 Hs.121365 2152981 SHGC-58291 miscrna 27874 VALIDATED 7206989 LINC00843 long intergenic non-protein coding RNA 843 10 51729786 51734610 + 100652748 AL442003;AMYH01002707;XR_132791;XR_171856 Hs.499594 miscrna 45009 MODEL 7206860 LINC00844 long intergenic non-protein coding RNA 844 10 60759278 60761377 + 100507008 ABBA01019444;AC022539;AMYH01002766;XR_110406;XR_111074;XR_171857 Hs.170953 miscrna 45031 MODEL 7206996 LINC00845 long intergenic non-protein coding RNA 845 10 62776033 62786175 + 100507058 ABBA01019470;AC011197;AMYH01002768;XR_110409;XR_132935;XR_171858 Hs.145227 miscrna ENSG00000227244 45033 MODEL 7205527 LINC00841 long intergenic non-protein coding RNA 841 10 q11.21 44404752 44465355 + 14702039;23251661 283033 ABBA01050016;AK093142;AK310302;AL139237;AL512640;AMYH01002294;AMYH01002295;NR_033846 Hs.730228 1339785;1684558;1765979 D10S1783;RH92399;SHGC-149367 miscrna 27430 PREDICTED 7240929 LINC00849 long intergenic non-protein coding RNA 849 100996629 ABBA01019567;AL136233;AMYH01002802;BC023330;XR_159036;XR_159199;XR_171859 Hs.180408 2122189;2128220;5015869 GDB:313261;RH44651;STS-R73468 miscrna 45077 MODEL 7240982 LINC00850 long intergenic non-protein coding RNA 850 q28 23223008 101241891 JX283354 Hs.744829 KUCG1 miscrna 45092 300892 7205393 LINC00838 long intergenic non-protein coding RNA 838 10 34048641 34061608 - 12477932;16344560 100505583 ABBA01033366;AL353643;AMYH01002226;AMYH01002227;BC042457;DB078335;NR_038932 Hs.568804 1761455 SHGC-145463 miscrna ENSG00000261683 44963 VALIDATED 7177209 LINC00710 long intergenic non-protein coding RNA 710 10 p14 10976903 10994126 - 12477932;16344560 254312 ABBA01034699;ABBA01034700;AL136369;AMYH01002023;BC033338;BC106956;BC106957;BC113009;DB038073;NR_015413;NR_024410;NR_024411 Hs.498620 2166057 RH48673 miscrna 27386 VALIDATED 7205377 LINC00837 long intergenic non-protein coding RNA 837 10 p12.1 29078240 29084979 - 12477932;16344560;16751776 100507605 ABBA01034372;AL080132;AL355376;AMYH01002213;BC028422;DB072413;DB091920;DB099527;DQ570228;DQ570950;DQ571718;DQ571900;DQ572686;DQ572875;DQ573363;DQ573552;DQ574444;DQ574601;DQ574882;DQ575911;DQ577491;DQ577642;DQ578034;DQ578035;DQ578156;DQ578493;DQ579042;DQ579043;DQ579679;DQ579691;DQ580580;DQ580639;DQ581283;DQ581922;DQ582408;DQ582495;DQ583515;DQ583749;DQ584181;DQ584779;DQ585406;DQ585943;DQ585944;DQ586334;DQ587220;DQ587221;DQ587222;DQ587717;DQ587832;DQ589991;DQ590256;DQ590741;DQ591000;DQ591366;DQ591611;DQ591712;DQ591931;DQ592062;DQ592173;DQ592750;DQ592976;DQ593266;DQ593299;DQ594039;DQ594163;DQ594186;DQ594620;DQ594644;DQ594774;DQ595188;DQ595433;DQ595623;DQ595624;DQ595760;DQ595815;DQ596324;DQ597121;DQ597339;DQ597510;DQ598413;DQ598550;DQ598634;DQ598916;DQ599704;DQ601875;NR_038374;NR_038375;NR_038376 Hs.119207 1696954 RH101949 miscrna ENSG00000235824 27436 VALIDATED 6480821 LINC00853 long intergenic non-protein coding RNA 853 1 47644922 47646011 + 20887892 100874253 ABBA01050829;AI651041;AI792909;AL135960;AMYH01000593;NR_047498 Hs.435758 PDZK1IP1-AS1;ncRNA-a4 APPROVED miscrna ENSG00000224805 43716 VALIDATED 2303682 LINC00839 long intergenic non-protein coding RNA 839 10 10 10 q11.21 38974383 38994229 + 42290963 42310791 + 42970939 42990785 + 16341674;14702039;12477932 84856 Q8NAU0 ABBA01049989;AK024638;AK090789;AK092104;AK293138;AL391099;AMYH01002282;BC007394;BI517331;BM738658;CH471160;CK903828;NR_026827 BAC03807;BAG56686;EAW86555 Hs.55977 1718671;2107363 MGC16291__7677;RH123023 APPROVED miscrna ENSG00000185904 28269 17516 VALIDATED 7205554 LINC00842 long intergenic non-protein coding RNA 842 10 q11.22 47096454 47151400 - 12477932 643650 ABBA01006251;ABBA01127407;ABBA01168654;AC244230;AL390716;AL391137;AMYH01002426;BC033221;NR_033957 AAH33221 Hs.744313 1782068;2134149 RH44528;SHGC-153959 miscrna ENSG00000223477 44989 VALIDATED 1606857 LINC00851 long intergenic non-protein coding RNA 851 20 20 20 p11.23 18433780 18436217 + 18309416 18310233 + 18359693 18362128 + 12477932 440757 Q8NEA0 ABBA01054045;AL049646;AMYH01011743;BC033985;CH471133;NR_034167 AAH33985;EAX10248 Hs.120399 1684116 RH99246 DZANK1-AS1;MGC44328 APPROVED miscrna ENSG00000237282 43424 14632 VALIDATED 7207551 LINC00847 long intergenic non-protein coding RNA 847 5 q35.3 180257957 180262726 + 12477932;14702039;16344560 729678 ABBA01010085;ABBA01010086;AC022413;AK095170;AK308536;AMYH01015972;BC047586;BX419382;DA361911;NR_027183;NR_045678;NR_045679 Hs.348292;Hs.655606 1780732;2185180 STS-H87270;bac51843S miscrna ENSG00000245060 45050 VALIDATED 1606766 LINC00852 long intergenic non-protein coding RNA 852 3 3 3 p25.3 10261911 10263238 + 10301151 10302430 + 10326103 10327430 + 6480464 12477932 84657 ABBA01020380;AC022384;AF085991;AF280797;AMYH01012969;BC015602;BC132802;BC132804;CH471055;NG_011560;NG_033090;NR_026829 AAK15459;EAW64073 Hs.302131 1653892;2187875 G72349;SHGC-34896 C3orf42;GHRL-AS2;GHRLOS2;NAG73 APPROVED miscrna ENSG00000231177 29904 VALIDATED 6769766 LINC00854 long intergenic non-protein coding RNA 854 17 41373437 41381062 - 12477932;22196729 100874261 ABBA01006386;ABBA01006387;AC109326;AMYH01008402;AMYH01008403;BC073918;NR_047479 Hs.546898 TMEM106A-AS1 APPROVED miscrna ENSG00000236383 43658 PREDICTED 7240948 LINC00857 long intergenic non-protein coding RNA 857 10 q22.3 81967466 81979413 + 12477932 439990 ABBA01003806;AL513174;AMYH01002882;BC009626;BC048265;NR_038464 Hs.365566 miscrna ENSG00000237523 45114 VALIDATED 7241928 LINC00867 long intergenic non-protein coding RNA 867 100506126 ABBA01062932;AL365498;AMYH01003106;XR_110461;XR_111111;XR_171870 Hs.69494 1685291 RH93340 miscrna ENSG00000232139 45265 MODEL 7242432 LINC00870 long intergenic non-protein coding RNA 870 14702039 201617 ABBA01030943;AC112219;AK055831;AMYH01013277;BE468097;NR_038221 Hs.382623 miscrna ENSG00000243083 27319 VALIDATED 7243081 LINC00871 long intergenic non-protein coding RNA 871 11329013;8889548 100506412 ABBA01018074;ABBA01018075;ABBA01018076;ABBA01018077;AL161664;AL355099;AL358341;AL512342;AL512414;BG186771;BG188315;BM725328;BU194844;BX092746;NR_102699;NR_102700;NR_102701;NR_102702;XR_133041;XR_133042;XR_159238 Hs.207545 miscrna 47038 VALIDATED 7240859 LINC00858 long intergenic non-protein coding RNA 858 10 q23.1 86039736 86054415 + 14702039;12477932 170425 ABBA01003756;AC022389;AK056561;AMYH01002890;BC104895;BC104921;NR_038220 Hs.434131 miscrna ENSG00000229404 27276 VALIDATED 5144627 LINC00901 long intergenic non-protein coding RNA 901 3 3 115048261 115059068 + 116640278 116651085 + 100506724 ABBA01061609;AC069504;AMYH01013409;XR_108471;XR_112529;XR_171400 Hs.125983 APPROVED miscrna ENSG00000242385 40352 MODEL 5686933 LINC00903 long intergenic non-protein coding RNA 903 q13.31 100861506 AC078784;DB446734 Hs.641878 APPROVED miscrna 40351 7244703 LINC00904 long intergenic non-protein coding RNA 904 19 35382933 35389847 - 16751776 100652909 ABBA01018726;AC008555;AMYH01009720;BX091932;DQ576308;DQ578267;DQ580034;NR_046222 Hs.374015 miscrna ENSG00000271649 44325 VALIDATED 7244063 LINC00877 long intergenic non-protein coding RNA 877 3 p14.2 72084670 72149578 - 23509962;14702039 285286 AC105265;AK097190;XR_109995;XR_112509 Hs.559386 1696658;2149596;2186111 CHLC.GATA68A11;D3S2430;SHGC-82967 miscrna 27706 7241718 LINC00864 long intergenic non-protein coding RNA 864 12477932 728218 ABBA01015528;ABBA01015529;AL355334;AMYH01002924;BC065757;NR_046091 Hs.713428 5014063 D15S1390 miscrna 45163 VALIDATED 1602788 LINC00862 long intergenic non-protein coding RNA 862 1 q32.1 200311672 200342920 - 12477932;15489334;16710414 554279 A6NCI5;A6NNT8 ABBA01027552;ABBA01027553;ABBA01027554;AC097065;AMYH01001635;BC040731;EU250749;NR_040064 A6NCI5 Hs.434694;Hs.575858 5015861;7185938 D10S16 C1orf98;SMIM16 APPROVED miscrna ENSG00000203721 21901 VALIDATED 7241777 LINC00865 long intergenic non-protein coding RNA 865 11181995;12477932;16344560;16751776 643529 ABBA01021943;AL137595;AL138924;AL157389;AL390206;AMYH01002935;BC033541;BC035398;CH471066;DB062095;NR_038382 EAW50125 Hs.618956 miscrna ENSG00000232229 45170 VALIDATED 7244879 LINC00906 long intergenic non-protein coding RNA 906 12477932 148145 ABBA01039529;AC011505;AC011524;AMYH01009666;BC039341;BC101426;BC101427;BC101428;BC122525;BX647231;DB513590;NR_027318 Hs.112651 miscrna ENSG00000267339 27121 VALIDATED 2292051 LINC00905 long intergenic non-protein coding RNA 905 19 19 19 p13.12 16042717 16052352 + 16005564 16013945 + 16143286 16152921 + 12477932;16751776 148231 ABBA01051127;AC004790;AC114273;AK058057;AMYH01009558;BC031284;BC069223;BC104220;BC104221;CH471106;DB461577;DQ570770;DQ574579;DQ575689;DQ577141;DQ583950;DQ586762;NR_024335;NR_024336 BAB71644;EAW84519;EAW84520 Hs.631621 2177383 RH65338 MGC126002 APPROVED miscrna ENSG00000167459 26334 08056 VALIDATED 1605489 LINC00898 long intergenic non-protein coding RNA 898 22 22 22 q13.31 31931184 31941712 - 46399643 46404315 - 48016792 48027318 - 12477932;16751776 400932 ABBA01010477;ABBA01010478;AK128136;AL117329;AMYH01012869;BC132762;BC132788;BC144501;CH471138;NR_033377;Z83854 EAW73451 Hs.561058 1660099 AL031087 APPROVED miscrna ENSG00000205634 48581 17000 VALIDATED 7245446 LINC00911 long intergenic non-protein coding RNA 911 100996280 AA905171;ABBA01030575;AI688626;AK131026;AL133369;AMYH01005921;AW197808;NR_102737;NR_102738;XR_159026;XR_159240;XR_172051 Hs.135735;Hs.742397 miscrna ENSG00000259107 48596 VALIDATED 7244454 LINC00914 long intergenic non-protein coding RNA 914 101669765 HF678991 RAGE miscrna 48604 7245020 LINC00913 long intergenic non-protein coding RNA 913 101669767 JX117418 SChLAP1 miscrna 48603 7245306 LINC00915 long intergenic non-protein coding RNA 915 101669763 KC469579 lncRNA-JADE miscrna 48601 1603385 LINC00869 long intergenic non-protein coding RNA 869 1 1 q21.1 147882427 147883410 + 149576262 149672733 + 6480464 14702039;12477932;9455484;16344560 57234 P0C866 AB007962;AK090660;AL358813;AL451058;AMYH01001373;CA777704;CK000370;DA041612;DA239089;DA368554;DA460367;DA711671;DA755472;DR157396;NR_046135;NR_046136;NR_046137;NR_046138;NR_046139 P0C866 Hs.662922;Hs.740852 FAM91A2;FLJ97060;FLJ99375;KIAA0493 APPROVED miscrna 29050 VALIDATED 7245181 LINC00907 long intergenic non-protein coding RNA 907 18 q12.3 39766633 40271391 + 23251661;11181995;12477932;21697133;22566634 284260 AB593072;AB593073;AB593074;AB593075;AB593076;ABBA01022364;ABBA01022365;ABBA01022366;ABBA01022367;AC011165;AC015670;AC021735;AC025480;AC084335;AC090239;AMYH01008959;BC011527;BC021928;BC040725;CH471088;NR_046174;NR_046454;NR_046455;NR_046456;NR_046457;NR_046458 AAH21928;EAX01428;EAX01429 Hs.652819 5037552 D8S2279 miscrna ENSG00000267586 44327 VALIDATED 7244517 LINC00920 long intergenic non-protein coding RNA 920 14702039;16344560 100505865 ABBA01025405;AC132186;AK056683;AMYH01007737;AW015153;DA813001;NR_046242 Hs.314372 1698722 RH102921 miscrna 48611 VALIDATED 7244393 LINC00908 long intergenic non-protein coding RNA 908 12477932;14702039 284276 ABBA01015281;AC018413;AC034110;AK093936;AMYH01009110;AMYH01009111;BC035336;BC121150;BC121151;NR_015417 Hs.390287 5037552 D8S2279 miscrna ENSG00000263812 27599 VALIDATED 7245391 LINC00910 long intergenic non-protein coding RNA 910 14702039;15489334 100130581 Q6ZW54 ABBA01028418;AC087650;AK123585;AK127427;AK311685;AL832479;AMYH01008406;BC035366;NR_027412;NR_027413 BAC85652;Q6ZW54 Hs.546897;Hs.732952 1733376;1734044;2184470;5015881;5024039;5037552;5109281;5117897 D16S325;D17S1187;D17S1342;D1S1425;D8S2279;GDB:335751;GDB:631813;RH16523 miscrna ENSG00000188825 44361 VALIDATED 7245156 LINC00919 long intergenic non-protein coding RNA 919 12477932 100505619 ABBA01066469;AC009039;AK098676;AMYH01007670;BC034401;BC070369;BC105278;NR_038233 Hs.535454 1687015 RH92391 miscrna ENSG00000260268 48610 VALIDATED 1606371 LINC00909 long intergenic non-protein coding RNA 909 18 18 18 q22.3 69125425 69131524 - 70414638 70416061 - 72259010 72265071 - 12477932;16344560;14702039 400657 ABBA01056328;AC116904;AK001853;AMYH01009096;AX877680;BC036588;BC132930;BC132956;DA004415;DB148466;NR_024484 BAG50984;CAE89832 Hs.61508 1665536;2137961;2143398;2143400;2176634;2176846 A005Y36;G20604;RH12437;STS-AA030055;STS-Z41513;WI-16865 FLJ10991 APPROVED miscrna ENSG00000264247 44331 17385 VALIDATED 7244601 LINC00917 long intergenic non-protein coding RNA 917 16 q24.1 86365456 86379285 - 12477932;14702039;20339536;21441570;22961001;23251661 732275 ABBA01034296;AC092327;AK093244;AL137562;AMYH01007895;BC043250;BC144028;NR_024406 Hs.558087;Hs.735136;Hs.735593 miscrna ENSG00000168367 48607 VALIDATED 7244887 LINC00923 long intergenic non-protein coding RNA 923 12477932 91948 ABBA01032404;AC024651;AC027708;AK025311;AMYH01006959;BC105714;BC105715;BC105716;BC105717;NR_024172;NR_024173 Hs.130423 1338475;1753861;1777126 D15S107;D15S1515;SHGC-108037 miscrna ENSG00000251209 28088 VALIDATED 7244525 LINC00926 long intergenic non-protein coding RNA 926 14702039;16344560 283663 ABBA01038994;AC016525;AK090515;AK097083;AK123700;AL713736;AMYH01006677;DB117396;NR_024433 Hs.181297 1688694;2150526;5022322;5037552;7185938 D10S16;D11S2560;D8S2279;RH98862;SHGC-64144 miscrna ENSG00000247982 27514 VALIDATED 7244977 LINC00922 long intergenic non-protein coding RNA 922 12477932;20379614 283867 ABBA01025392;ABBA01025393;ABBA01025394;ABBA01025395;ABBA01025396;ABBA01025397;AC009055;AC009062;AC092138;AC123909;AMYH01007735;AMYH01007736;AMYH01007737;BC037902;BC104446;BC104447;CH471092;NR_027755 EAW83005 Hs.444774 1335902;1727869;2169134 D16S186;D16S3043;G63352 miscrna ENSG00000261742 27545 VALIDATED 7244475 LINC00921 long intergenic non-protein coding RNA 921 12477932;14702039;16344560 283876 ABBA01026738;AI816936;AJ003147;AK096958;AMYH01007091;BC104941;BC104943;DA532447;NR_033904 AAI04942;AAI04944;BAC04912 Hs.592092 1693832;5015619;5037552 D11S3114;D8S2279;SHGC-58951 miscrna ENSG00000006194 26830 VALIDATED 7245006 LINC00930 long intergenic non-protein coding RNA 930 14702039;16344560;16751776 100144604 ABBA01053092;AC091580;AI149645;AK093148;AL045331;AMYH01006931;DB045163;DB061727;DB337836;DQ572600;DQ579282;DQ579770;DQ582019;DQ582200;DQ583468;DQ583920;DQ584430;DQ584431;DQ586969;DQ591924;DQ593065;DQ593960;DQ594661;DQ595207;DQ600577;NR_021493 Hs.245476 miscrna ENSG00000258647 48620 VALIDATED 7245321 LINC00924 long intergenic non-protein coding RNA 924 12477932;14702039;16344560 145820 ABBA01032425;ABBA01032426;AC027013;AC027547;AK057337;AMYH01006950;BC131607;DB021433;NR_027132;NR_027133 Hs.652702 1700842;5015619;5021872;5022200;5022651;5037552 D11S2921;D11S3114;D8S2279;L18426;RH104047;sY3084 miscrna ENSG00000259134 27081 VALIDATED 7245123 LINC00933 long intergenic non-protein coding RNA 933 16344560;8889548 100506874 AA629286;ABBA01052940;AC048382;AK026477;AMYH01006869;BE859082;BQ429975;CF144159;DB071937;NR_038273;NR_038274 Hs.150824 miscrna 48625 VALIDATED 7244794 LINC00925 long intergenic non-protein coding RNA 925 12477932;14702039 254559 ABBA01053010;ABBA01053011;AC013391;AC133637;AK054710;AK054931;AK096359;AK123792;AK125292;AMYH01006914;BC033240;NR_015411 Hs.136313 2113176 D15S1498 miscrna 27388 VALIDATED 7245354 LINC00927 long intergenic non-protein coding RNA 927 12477932;14702039 283688 ABBA01060624;AC012337;AC016705;AC087761;AK097782;AMYH01006849;BC040586;DB448280;NR_033833 Hs.525933 miscrna ENSG00000259361 27522 VALIDATED 7244653 LINC00928 long intergenic non-protein coding RNA 928 12477932 283761 ABBA01053013;AC013391;AMYH01006914;AMYH01006915;BC039350;BC102002;BC102003;BC102004;BC102005;BC113965;BX103832;NR_027074;NR_027075;NR_027076;NR_027077 Hs.459288 1722119;2150127;2182687 D15S713E;G60102;HSC15C072 miscrna 27535 VALIDATED 7244679 LINC00929 long intergenic non-protein coding RNA 929 12477932;22832964 503519 ABBA01048702;AC100836;AI808329;AMYH01006487;BC038777;BX117286;NR_038851;NR_038852 Hs.371380 miscrna ENSG00000259150 48615 VALIDATED 7245245 LINC00940 long intergenic non-protein coding RNA 940 16344560 100271702 ABBA01048813;ABBA01048814;AC005342;AK296286;AK316036;AMYH01004176;DA269488;NR_036546 BAG58992;BAH14407 Hs.737031 2142962 D12S2045 miscrna ENSG00000235049 48634 VALIDATED 7245055 LINC00935 long intergenic non-protein coding RNA 935 6480464 12477932 255411 ABBA01031482;ABBA01031483;ABBA01031484;ABBA01031485;AC009775;AC079951;AC117498;AK131005;AMYH01004435;BC036043;BC054859;BC146870;BC146877;NR_029448;NR_029449 Hs.404103 1712444;1746325;1749393;1787862;2160765 G54257;G64366;SHGC-111138;SHGC-132667;SHGC-37064 miscrna ENSG00000257987 48628 VALIDATED 7245307 LINC00934 long intergenic non-protein coding RNA 934 12477932;14702039 144742 ABBA01020071;AC084881;AK057497;AMYH01004789;BC101457;BC101458;BC101459;BC118554;BC118632;CH471054;NR_024246 EAW98145 Hs.524782 5037552 D8S2279 miscrna 27059 VALIDATED 2300993 LINC00937 long intergenic non-protein coding RNA 937 12 12 12 p13.31 10075795 10109639 - 8400827 8434615 - 8509559 8543348 - 12477932 389634 Q8NC93 ABBA01012240;ABBA01012241;AC092745;AC092865;AI656939;AK074886;AMYH01004227;AMYH01004228;AMYH01004229;BC044942;BC073935;CH471116;CQ784036;NR_024420 BAC11267;CAF86980;EAW88621 Hs.434403 5022651 D11S2921 APPROVED miscrna ENSG00000226091 48629 18395 VALIDATED 7245345 LINC00942 long intergenic non-protein coding RNA 942 14702039;20379614 100292680 ABBA01048826;AC004671;AK090616;AMYH01004171;BC019241;BG332174;BQ942184;BQ949914;BQ954540;NR_028415 Hs.391695 1687622;1736270;2184405 D12S1227E;D12S1406;RH91161 miscrna 48636 VALIDATED 7245912 LINC00948 long intergenic non-protein coding RNA 948 11329013 100507027 AB019391;ABBA01019456;AC022027;AF086308;AMYH01002767;BG210823;BM021470;NR_038199;NR_038200 Hs.648790 1689362 RH94047 M1 miscrna ENSG00000227877 48649 VALIDATED 7244512 LINC00936 long intergenic non-protein coding RNA 936 12 q21.33 90102732 90105729 + 12477932;14702039 338758 ABBA01053417;AC009522;AK094517;AMYH01004649;BC031240;BC040326;BC047477;NR_028138 Hs.601766 1744045 GDB:384913 miscrna ENSG00000271614 27883 VALIDATED 7244899 LINC00938 long intergenic non-protein coding RNA 938 12 q12 46119503 46121704 - 12477932 400027 ABBA01031446;AC008124;AMYH01004425;AX888069;BC008245;BC037237;BC047417;CH471111;NR_028408 CAE93994;EAW57886 Hs.597122 1683447;1778442;2156595 RH80730;SHGC-56814;WI-16886 miscrna 48630 VALIDATED 7245769 LINC00950 long intergenic non-protein coding RNA 950 14702039;8619474;9110174 92973 ABBA01064982;AF052116;AF370382;AK054925;AK055303;AL133410;AL832569;AMYH01019347;NR_024006 AAQ15218 Hs.12509 1649289;2137320;2142500;5022651 A003M47;Cda0vb11;D11S2921;SHGC-36744 FP588 miscrna 28098 VALIDATED 7245426 LINC00939 long intergenic non-protein coding RNA 939 12477932;14702039 400084 ABBA01060327;AC005186;AK057632;AL137270;AMYH01004856;AMYH01004857;BC057846;NR_034132 Hs.156191 2152483;5015961;5016478;5020881 D15S1477;GDB:434012;L17709;RH78754 miscrna ENSG00000249267 48631 VALIDATED 7245254 LINC00941 long intergenic non-protein coding RNA 941 12477932;16344560 100287314 ABBA01068090;AC010198;AK289874;AMYH01004362;BC072678;DB306709;NR_040245 BAF82563 Hs.355210 5037552 D8S2279 miscrna ENSG00000235884 48635 VALIDATED 7245630 LINC00959 long intergenic non-protein coding RNA 959 10 q26.3 131862160 131909081 - 14702039 387723 ABBA01009124;ABBA01009125;AK094118;AL139123;AMYH01003183;AW135007;CH471066;EU250747;NR_034125 ACF23537;EAW49158 Hs.127394 2141979;5015961;5022200 D15S1477;L18426;STS-AA036862 miscrna 48677 VALIDATED 7245167 LINC00943 long intergenic non-protein coding RNA 943 12477932 100507206 AA400092;ABBA01060316;AC069235;AL567219;AMYH01004862;AY070435;BC039096;DB450910;NR_038256 AAL65262 Hs.662298 1341908;1678849;1686816;7183713 D12S307;RH92063;RH92779 miscrna 48639 VALIDATED 7245076 LINC00944 long intergenic non-protein coding RNA 944 12477932;16344560 387895 ABBA01060316;AC069235;AMYH01004862;BC040060;DA048939;NR_033878 Hs.534660 1341908;1678849;1686816;7183713 D12S307;RH92063;RH92779 miscrna 48640 VALIDATED 1602151 LINC00951 long intergenic non-protein coding RNA 951 6 6 6 p21.2 41864975 41876630 - 40420102 40429463 - 40312084 40323745 - 12477932;23872665 401260 ABBA01050766;ABBA01050767;AK123643;AL139275;AMYH01016290;BC132803;BC132805;NR_038887;R41561 Hs.654837 1644305;1657149;1786086 A002L37;RH78028;SHGC-156247 APPROVED miscrna 48662 16954 VALIDATED 4108098 LINC00955 long intergenic non-protein coding RNA 955 4 4 p16.3 3548394 3560843 + 3578596 3592712 + 14702039;12477932 285492 ABBA01029463;ABBA01029464;AK092743;AL121796;AMYH01013893;AX747702;BC131584;CH881024;CR736287;NR_040045 BAC03963;EAW50497 Hs.145563 APPROVED miscrna 26644 08181 VALIDATED 7245684 LINC00954 long intergenic non-protein coding RNA 954 12477932;14702039;16344560 400946 ABBA01018487;AC013400;AK022396;AK097927;AMYH01010148;BC068572;DB155534;NR_033875 Hs.289062 1339244;1658881 D9S766;RH45646 miscrna ENSG00000228784 48668 VALIDATED 7245594 LINC00957 long intergenic non-protein coding RNA 957 14702039;16344560;12477932 255031 AACC02000110;ABBA01058213;AC017116;AK092709;AMYH01017208;BC014556;BC024303;BC064488;BC081571;CH236960;DA066910;DA204840;DA212423;DA293391;DA406714;DA776150;NR_015401;NR_072981;NR_072982 Hs.633978;Hs.661253 5022578;5022649;5022651 D11S2875;D11S2921;D1S1423 miscrna 22332 VALIDATED 7245745 LINC00960 long intergenic non-protein coding RNA 960 12477932 401074 ABBA01030989;AC108724;AMYH01013292;BC039495;BC111371;NR_040004;NR_040005 Hs.528540 1678249 RH78278 miscrna ENSG00000242516 48710 VALIDATED 7246217 LINC00967 long intergenic non-protein coding RNA 967 16344560 100505659 ABBA01041870;AC090195;AMYH01018772;BX360434;BX389854;DB379123;NR_039979 Hs.529729 1676035 RH79702 miscrna ENSG00000253138 48725 VALIDATED 7246751 LINC00961 long intergenic non-protein coding RNA 961 12477932;14702039;19240061 158376 ABBA01064979;AK056723;AL135841;AMYH01019347;BC034765;BC113682;BC113684;NR_024283 Hs.302677 2172053 SHGC-33250 miscrna ENSG00000235387 27244 VALIDATED 7246996 LINC00973 long intergenic non-protein coding RNA 973 100506377 ABBA01061811;AC091212;AMYH01013354;XR_108458;XR_112526;XR_171397 Hs.307772 miscrna ENSG00000240476 48868 MODEL 7246397 LINC00966 long intergenic non-protein coding RNA 966 14702039;16344560;8889548 100130155 ABBA01041851;AC013492;AK124256;AMYH01018764;BM706891;BM717762;BU726941;DB176551;NR_034102;NR_034103;R12755 Hs.7023;Hs.731717 1671662;1673596;2162345;2164424;2176149 A004N38;A009A45;RH48068;RH66774;SGC31875 miscrna ENSG00000254377 48723 VALIDATED 7246031 LINC00968 long intergenic non-protein coding RNA 968 14702039;16344560 100507632 ABBA01041772;ABBA01041773;AC012349;AC013644;AK055621;AMYH01018736;BF061498;DA589236;NR_038236 Hs.583755 1335996;1644747;1676526;1704976;1772373;2182429 D8S166;D8S1661;D8S444;RH12491;RH92188;SHGC-77990 miscrna ENSG00000246430 48727 VALIDATED 7247373 LINC00977 long intergenic non-protein coding RNA 977 11181995;19656524 728724 ABBA01037962;AC103833;AI822106;AMYH01019021;BX090073;CH471060;NR_033916 EAW92118;EAW92119 Hs.49902 miscrna ENSG00000250400 48902 VALIDATED 7247411 LINC00984 long intergenic non-protein coding RNA 984 19531736 100505573 ABBA01038453;AC013356;AMYH01006560;XR_109180;XR_111498;XR_172079 Hs.530791 OGU1 miscrna 35165 MODEL 7246309 LINC00963 long intergenic non-protein coding RNA 963 11329013;12477932;14702039 100506190 ABBA01043932;AK024177;AK057050;AK092686;AL353803;AL391056;AMYH01021761;BC019073;BC036842;BC038559;BC044229;BC112296;BC112298;BG192193;DR006520;NR_038955 Hs.529860 1667991;1729886;2127649;2139781;2139783;5014039;5016478;5020946;5022200;5022463;5022578;5022651;5037552 AFMa131wh9;D11S2921;D1S1423;D22S1584;D3S1673;D8S2279;D9S115;GDB:434012;L17971;L18426;RH35902;RH47770;SHGC-34968 miscrna 48716 VALIDATED 7246956 LINC00974 long intergenic non-protein coding RNA 974 14702039 147093 ABBA01031809;AC019349;AK056318;AMYH01008387;NR_038442 Hs.680576 miscrna ENSG00000226629 27105 VALIDATED 7247976 LINC00994 long intergenic non-protein coding RNA 994 100287879 ABBA01024311;AC092040;AK125779;AMYH01013248;NR_033978 BAC86286 Hs.452789 miscrna ENSG00000189196 48949 VALIDATED 7246439 LINC00964 long intergenic non-protein coding RNA 964 12477932;14702039;16344560;16751776 157381 ABBA01037906;AC009908;AC100858;AK056899;AMYH01019010;BC033393;BC043249;DB071196;NR_027321 Hs.638933;Hs.651593 miscrna ENSG00000249816 27226 VALIDATED 7247352 LINC00987 long intergenic non-protein coding RNA 987 14702039 100499405 ABBA01012258;AC010175;AK126248;AMYH01004244;NR_036466 Hs.182314 miscrna ENSG00000237248 48911 VALIDATED 2302188 LINC00999 long intergenic non-protein coding RNA 999 10 10 p11.1 38775584 38781780 + 38717074 38741081 + 16751776 399744 ABBA01001512;ABBA01001513;AK128746;AK293765;AK311605;AL133216;AMYH01002263;BQ000710;DQ599874;NR_024497 BAC87596;BAG57183 Hs.497951 5121336 D17S1929 FLJ59853 APPROVED miscrna 38537 18408 VALIDATED 7247955 LINC00997 long intergenic non-protein coding RNA 997 14702039 401321 ABBA01056851;AC018645;AF143329;AK092714;AK127989;AMYH01017160;NR_036501 Hs.627604 miscrna 48952 VALIDATED 7248363 LINC01001 long intergenic non-protein coding RNA 1001 100133161 AC069287;AK293878;AMYH01003261;AMYH01003262;AMYH01003263;NR_028326 BAG57267 Hs.645398 miscrna 38540 PREDICTED 1602260 LINC01002 long intergenic non-protein coding RNA 1002 19 19 p13.3 146591 153831 - 197016 202209 - 399844 Q6ZQS4 AC010507;AC092299;AK128780;AK303004;AMYH01009166;AMYH01009167;AMYH01009168;AMYH01009169;BC117566;NR_028324 BAC87609;BAG64137 Hs.356758;Hs.732199;Hs.733048 FLJ56364 APPROVED miscrna 38538 13506 PREDICTED 7246860 LINC00965 long intergenic non-protein coding RNA 965 12477932;14702039 349196 AF228730;AK090418;AK094835;BC093747;NR_027000 BAC03399 Hs.559040;Hs.625429 5095804;5126189 D17S1928;SHGC-51374 miscrna 28022 VALIDATED 7246051 LINC00971 long intergenic non-protein coding RNA 971 12477932 440970 ABBA01031079;ABBA01031080;ABBA01031081;AC107025;AC117482;AC119039;AMYH01013316;AMYH01013317;BC068246;NR_033860 Hs.411049 1703608;1721905;1733926;1733948;1733954;1750205;1755057;5014051;5037552;5094318 D3S2542;D3S2554;D3S2557;D8S2278;D8S2279;G54708;G59983;SHGC-112302;SHGC-141997;SHGC-78693 miscrna ENSG00000242641 48737 VALIDATED 7248189 LINC00998 long intergenic non-protein coding RNA 998 12477932 401397 A4D0T7 AACC02000001;ABBA01057836;AC073346;AMYH01017863;BC065765;BC107860;BQ446959;BU630382;BX537645;CH236947;DN995392;NR_015442;NR_024412 A4D0T7;EAL24371 Hs.117929 miscrna ENSG00000214194 48953 VALIDATED 7248139 LINC00996 long intergenic non-protein coding RNA 996 12477932;12690205;14702039 285972 AACC02000108;ABBA01035185;AC073111;AK097158;AMYH01018140;BC052099;BC109387;NR_034033 EAL24478 Hs.647110 miscrna ENSG00000242258 27800 VALIDATED 7247328 LINC00982 long intergenic non-protein coding RNA 982 12477932;21832049;23801869;8889548 440556 ABBA01073667;AK124865;AL008733;AL713743;AL832943;AL833006;AMYH01000185;BC029785;BM931404;CH471248;NR_015440;NR_024371 BAC85972;CAD28523;EAW61145 Hs.531041 miscrna ENSG00000177133 48664 VALIDATED 7247893 LINC01006 long intergenic non-protein coding RNA 1006 11181995;12690205;16341674 100506380 AACC02000068;ABBA01032376;ABBA01032377;ABBA01032378;AC005534;AC073871;AMYH01018188;BM793926;BU932175;BX103419;CH236954;CH471149;NR_103858;XR_108712;XR_108713;XR_110778;XR_110779;XR_113092;XR_113093;XR_171701 EAL23918;EAX04548;EAX04549 Hs.721001;Hs.741680 miscrna ENSG00000182648 48971 VALIDATED 7247849 LINC01000 long intergenic non-protein coding RNA 1000 12477932;12690205;14702039;16751776 402483 Q6ZSN7 ABBA01057660;AC018638;AC093183;AK093729;AK127273;AK294679;AK302487;AK304049;AMYH01017921;BC047304;BC062355;BC131589;CH236951;DQ577524;DQ584983;DQ589481;NR_024368 BAG57842;BAG63772;BAG64959;EAL23995;Q6ZSN7 Hs.722350;Hs.744076 miscrna 38541 VALIDATED 7247990 LINC01003 long intergenic non-protein coding RNA 1003 12477932;8889548 100128822 ABBA01035131;AC005631;AMYH01018152;BC036622;BI755992;BU742627;CF146980;NR_027387 Hs.647112 miscrna ENSG00000261455 48957 VALIDATED 7247996 LINC01013 long intergenic non-protein coding RNA 1013 11329013 100507254 ABBA01025881;ABBA01025882;AF086187;AL021408;AMYH01016676;BC040870;BG195633;NR_038981 Hs.103070 miscrna 48987 VALIDATED 7248331 LINC01010 long intergenic non-protein coding RNA 1010 14702039;16344560;21768215 154092 AA952986;ABBA01025854;AK055166;AL078590;AMYH01016688;AMYH01016689;BC041589;DA244667;DA265202;DA291077;DA419376;DA420003;NR_038216;NR_038217;NR_038218;NR_038219 Hs.223718 miscrna 48978 VALIDATED 6481046 LINC01014 long intergenic non-protein coding RNA 1014 3 q26.32 178136989 178175093 + 11181995 100874330 ABBA01058548;AC024220;AMYH01013682;BX105665;NR_046786 Hs.201902 APPROVED miscrna ENSG00000223941 41353 PREDICTED 7248020 LINC01005 long intergenic non-protein coding RNA 1005 12477932 100506050 ABBA01027969;AC115220;AMYH01017427;BC031977;BC038424;DB525991;NR_039987 Hs.405628 miscrna 48963 VALIDATED 7247744 LINC01004 long intergenic non-protein coding RNA 1004 12477932;14702039 100216546 AACC02000004;ABBA01057962;AC007384;AK092446;AK123595;AK126130;AMYH01017817;BC041969;CH236947;NR_039981 Hs.369356 miscrna 48961 VALIDATED 7248225 LINC01015 long intergenic non-protein coding RNA 1015 14702039;16344560;16751776 100507362 ABBA01038032;AK097713;AK126097;AL662826;AL662860;AMYH01016195;BX000531;BX247947;BX927223;CD358111;CR759768;CR759770;CR788300;DB050954;DB052894;NR_037179;NR_037180;NR_037181 Hs.99161 miscrna ENSG00000224582 48988 VALIDATED 7248383 LINC01007 long intergenic non-protein coding RNA 1007 12477932;16344560;8619474;9110174;9847074 100506527 ABBA01011320;AC004953;AF131787;AMYH01017752;BC027906;BC039094;DA533941;NR_103747;NR_103748;NR_103749;XR_108854;XR_110719;XR_113044;XR_158830;XR_159094;XR_159494;XR_171670;XR_171671 Hs.535863 miscrna ENSG00000233123 48973 VALIDATED 7247871 LINC01012 long intergenic non-protein coding RNA 1012 12477932 100507173 ABBA01038005;ABBA01038006;ABBA01038007;AL009179;AL120625;AMYH01016189;BC035101;BI771077;NR_038292;NR_038293;NR_038294 Hs.635987;Hs.733567 miscrna 48986 VALIDATED 7248649 LINC01028 long intergenic non-protein coding RNA 1028 101930743 BX647864 miscrna 49014 7248623 LINC01029 long intergenic non-protein coding RNA 1029 101930742 BC016792;BF183892 miscrna 49015 1602155 LINC01011 long intergenic non-protein coding RNA 1011 6 6 6 p25.2 4217216 4220420 + 2930128 2936406 + 2988201 2991405 + 16344560;14702039;12477932 401232 Q96NM8 ABBA01048622;AK055096;AK123663;AL133351;AMYH01016028;BC108683;BC137372;BQ025114;BX640709;DA076107;NR_026855;NR_026856 BAB70854;CAE45828 Hs.720158 2165988 WIAF-1583 APPROVED miscrna ENSG00000244041 33812 16819 VALIDATED 7247826 LINC01020 long intergenic non-protein coding RNA 1020 12477932 340094 ABBA01016132;AC010451;AMYH01014877;BC042977;BC113532;BC113534;NR_026994 Hs.665092 miscrna ENSG00000215231 27968 VALIDATED 7248069 LINC01016 long intergenic non-protein coding RNA 1016 12477932;14702039 100507584 ABBA01038163;AK057709;AL138889;AMYH01016250;AMYH01016251;BC034285;BC042121;CR745530;NR_038989 Hs.547104 miscrna ENSG00000249346 48991 VALIDATED 7247934 LINC01018 long intergenic non-protein coding RNA 1018 12477932;14702039 255167 ABBA01016148;AC027334;AK125283;AMYH01014880;BC043253;BC106918;BC106919;BX102675;NR_024423;NR_024424 Hs.435515 miscrna ENSG00000250056 27394 VALIDATED 7248528 LINC01023 long intergenic non-protein coding RNA 1023 12477932;14702039;21697133 100652853 AB593118;ABBA01069101;AC034207;AK126449;AMYH01015539;BC011940;BF972671;CH471086;NR_046368 BAJ84058;EAW49059 Hs.133009 HP07349 miscrna 49004 VALIDATED 1345320 LIPB lipase B, lysosomal acid 6937431 3989 6618 247980 7248498 LINC01024 long intergenic non-protein coding RNA 1024 12477932;16344560 100505636 ABBA01026440;AC011379;AL557445;AMYH01015655;BC042448;BG772617;DA277756;DB451602;NR_102739;NR_102740;NR_102741;XR_110309;XR_110310;XR_112788;XR_112789;XR_171527 Hs.438871 miscrna ENSG00000245146 49009 VALIDATED 1606911 LINGO4 leucine rich repeat and Ig domain containing 4 1 1 1 q21.3 124887448 124892565 - 150039389 150044506 - 151772765 151777882 - 6480464 12975309;12477932;22104011 339398 Q6UY18 ABBA01049405;AL589765;AMYH01001395;AY358115;BC137220;BC137221;NM_001004432 AAI37221;AAI37222;AAQ88482;NP_001004432;Q6UY18 Hs.591477 1858000;2169416 RH16275;SHGC-34816 DAAT9248;LRRN6D;PRO34002 OTTHUMP00000015256;leucine rich repeat neuronal 6D;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4;leucine-rich repeat neuronal protein 6D protein-coding 31814 17453 609794 PROVISIONAL 1318574 LINGO1 leucine rich repeat and Ig domain containing 1 15 15 q24.3 75692424 75711764 - 77905369 77924709 - 6480464 21506150;19363035;19254717;19182806;17726113;17239012;17005555;16189514;14966521;14702039;14686891;12975309;12477932;16169070;15694322;22514275;20957646;19553813;19720553;19805735;19908305;20117178;20310002;20369371;20372186;20468067;20951767;20600614;20659559;22133804;21264305;22425540;23574883;23482566;21158743;21741293;21219542;22216198;21752692;21955595;22710005 84894 H0YMX3;H0YNK7;H3BM59;H3BMN3;H3BMW2;H3BN48;H3BQ49;H3BS32;Q96K52 ABBA01060570;ABBA01060571;AC046168;AK027500;AK291363;AL109677;AL834260;AMYH01006828;AY324320;AY324322;AY324323;AY358284;BC011057;BC068558;CH471136;H11343;NM_032808 AAH11057;AAH68558;AAQ88651;AAQ97216;AAQ97217;AAQ97218;BAB55157;BAF84052;CAD38935;EAW99195;EAW99196;EAW99197;EAW99198;NP_116197;Q96FE5 Hs.656765;Hs.745412 1643935;1721627;1762601;5096125 G59824;SHGC-146402;STS-H11343;WI-21778 FLJ14594;LERN1;LRRN6A;MGC17422;UNQ201 leucine rich repeat neuronal 6A;leucine-rich repeat and immunoglobilin domain-containing protein 1;leucine-rich repeat and immunoglobulin domain-containing protein 1;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1;leucine-rich repeat neuronal 6A;leucine-rich repeat neuronal protein 1;leucine-rich repeat neuronal protein 6A protein-coding ENSG00000169783 21205 14322 609791 VALIDATED 1344562 LINGO2 leucine rich repeat and Ig domain containing 2 9 9 9 p21.2 27876621 28649863 - 27938528 28709303 - 27948084 29212998 - 6480464 19240061;14702039;14686891;12975309;21287203;20694011;20935630;12477932;20200978;20369371;20379614;21832049;16344560;22123311;23251661;23382691 158038 Q7L985 ABBA01065116;ABBA01065117;ABBA01065118;ABBA01065119;ABBA01065120;ABBA01065121;ABBA01065122;ABBA01065123;ABBA01065124;ABBA01065125;AK056372;AK172834;AK290972;AL158072;AL162388;AL353683;AL353746;AL354758;AL360180;AL445526;AL450428;AL451124;AL592206;AL596323;AMYH01019298;AMYH01019299;AMYH01019300;AMYH01019301;AMYH01019302;AMYH01019303;AMYH01019304;AMYH01019305;AMYH01019306;AMYH01019307;AY358114;BC137514;BC144676;CH471071;CS161398;DA531255;DN991981;NM_001258282;NM_152570 AAI37515;AAI44677;AAQ88481;BAB71167;BAD18799;BAF83661;CAJ30882;EAW58557;NP_001245211;NP_689783;Q7L985 Hs.662661;Hs.745029 1336892;1337889;1341110;1645017;1648871;1676432;1704042;1705928;1706256;1712639;1713673;1714559;1724603;1733206;1733784;1752161;1755629;1763187;1765699;1766233;1766827;1787104;1787106;1787188;1788612;2077444;2116956;2123108;2167861;5093044;5120423;7186346 A009E40;BB396479;D9S1678;D9S1736;D9S1875;D9S2025;D9S270;D9S746;D9S963;G15827;G32487;GDB:315517;REN109927;RH119793;RH120170;RH120719;RH121299;RH15970;RH98626;SHGC-106062;SHGC-142482;SHGC-146914;SHGC-149139;SHGC-149594;SHGC-152204;SHGC-155133;SHGC-155134;SHGC-77846;SHGC-78093;SHGC-80671;SHGC-83752 FLJ31810;LERN3;LRRN6C OTTHUMP00000021174;leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2;leucine-rich repeat neuronal protein 3;leucine-rich repeat neuronal protein 6C protein-coding ENSG00000174482 21207 08715 609793 VALIDATED 7244779 LIPE-AS1 LIPE antisense RNA 1 14702039;8889548 100996307 ABBA01040847;ABBA01040848;ABBA01040849;ABBA01040850;ABBA01040851;ABBA01040852;ABBA01040853;ABBA01040854;AC004558;AC004559;AC004785;AC011497;AC093030;AC104105;AK096849;AK311181;AMYH01009832;AMYH01009833;BM974950;CH471126;DW455857;NR_073179;NR_073180 BAC04875;EAW57136 Hs.466840;Hs.567935;Hs.624933 miscrna ENSG00000213904 48589 VALIDATED 1602699 LINS lines homolog (Drosophila) The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. [provided by RefSeq, Sep 2010] 15 15 15 q26.3 77522681 77555652 - 98926958 98959927 - 101109428 101142445 - 6480464 16344560;14702039;12477932;12119551;8889548;20379614;19322201;21906983 55180 H0YKU3;H0YM78;H0YMK4;H0YMQ0;H3BNM9;H3BNS6;Q8NG48 AB083157;ABBA01020536;AC027020;AC090695;AI301298;AK001445;AK093868;AK095448;AK292972;AK298946;AMYH01006971;BC010363;BI910880;BM723636;CH471101;DA447859;DA674923;DA705707;DA880742;DA958361;NM_001040616 BAA91696;BAB93864;BAF85661;BAG61045;EAX02270;EAX02271;EAX02272;EAX02273;NP_001035706;Q8NG48 Hs.105633 1659654;1772911;2110803 A008Z41;RH78741;WINS1__4907 FLJ10583;LINS1;WINS1 OTTHUMP00000194815;WINS1 protein with Drosophila Lines (Lin) homologous domain;lines homolog 1;protein Lines homolog;protein Lines homolog 1;wnt-signaling molecule Lines homolog 1 APPROVED protein-coding 30922 17280 610350 REVIEWED 1605865 LIPI lipase, member I The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. The encoded protein, which can be inhibited by sodium vanadate, may be found exclusively in sperm. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. [provided by RefSeq, Jun 2010] 21 21 21 q11.2 638370 736505 - 14403005 14501125 - 15481134 15579254 - 1625450;6480464;7240710 12719377 15548687;12963729;10830953;21132378 149998 H0Y3S0;Q5D1Q2;Q6XZB0 ABBA01057083;AC006556;AF130358;AL078615;AL160451;AMYH01012140;AP001347;AP001660;AY197607;AY918476;JN387910;JN387911;JN387912;JN387913;JN387914;JN387915;JN387916;NG_021434;NM_198996 AAI40337;AAI48692;AAP37476;AAX14040;AEL12688;AEL12689;AEL12690;AEL12691;AEL12692;AEL12693;AEL12694;NP_945347;Q6XZB0 Hs.139907 1689185;1740699;1787586;5124563 D14S1263;RH91932;RH92170;SHGC-155914 CT17;LPDL;PLA1C;PRED5 LPD lipase;OTTHUMP00000082969;cancer/testis antigen 17;lipase member I;mPA-PLA1 beta;membrane-associated phosphatidic acid-selective phospholipase A1-beta;membrane-associated phospholipase A1 beta;membrane-associated phospholipase A1 beta 7B+;membrane-associated phospholipase A1 beta deltaE2-3;membrane-associated phospholipase A1 beta deltaE5;membrane-associated phospholipase A1 beta deltaE6.1;membrane-associated phospholipase A1 beta deltaE7.2;membrane-associated phospholipase A1 beta deltaE8-9;membrane-associated phospholipase A1 beta fl APPROVED protein-coding ENSG00000188992 18821 14193 145750;609252 REVIEWED 736877 LIPC lipase, hepatic LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008] 15 15 q21-q23 56511467 56648364 + 58724175 58861073 + 1580512;1580513;1600654;1600644;1600664;1600663;1331525;1300048;1580863;2308800;2308783;2308785;2308786;2308789;2308790;2308792;2308794;2308828;2308849;2308796;2308845;2308793;2308844;2308823;2308846;2308788;2308797;2308824;2308835;2308826;2308829;2308830;2308841;2307432;2308781;1581787;2308784;2308798;2308799;2308822;2308839;2308850;2308836;2308834;2308840;6480464;7240710 16338252;12642787;16258026;17175070;12689525;15099346;15118671;7047662;12841343;10844597;10600655;9186885;9106496;7666262;1592086;15983323;1868959;1918876;9580247;7830494;11095452;16928730;187516;8636395;2113037;16570154;12843191;16429317;15941898;15656877;11279518;18758746;14531811;12935429;11544558;6480830;7078435;18413186;11916946;6340423;8666151;11427226;11395034 3244012;9685400;182536;2839510;2447084;14531818;8640403;1883393;19528346;19489872;19479237;19429860;19428034;19420105;19367320;19350521;19336370;19285487;19263529;19155782;19155102;19148283;19131662;19101670;19088157;19060911;19060910;19060906;19056482;19052449;19043545;19034316;18996102;18978678;18927546;18724972;18676680;18675312;18660489;18641720;18636124;18622260;18599739;18592285;18513389;18510853;18468200;18364377;18354102;18275964;18249219;18193044;18193043;18164013;18160998;18084291;18059528;18001531;17919884;17855807;17700364;17568951;17537154;17440012;17428321;17406067;17399967;17390085;17342071;17327141;17318300;17234195;17222414;17157861;17137217;17080261;16879193;16822236;16793047;16770077;16603721;16554020;16542392;16449872;16427731;16419358;16343038;16330034;16324926;16316842;16205020;16164573;16153627;16141008;16122151;16115483;16077949;16039291;16038892;16030523;16005462;15983229;15979432;15961789;15949705;15821100;15817871;15755868;15721010;15657615;15608561;15379569;15304509;15292318;15292235;15205216;15156410;15135253;15135251;15126514;14985399;14967812;14709367;14679168;14657196;14650352;14630921;14615390;14608050;14585761;14564687;14557872;15855254;12966036;12964943;12883629;12860265;12818414;12798568;12777476;12777470;12700335;12691171;12547874;12544508;12514935;12477932;12417924;12403660;12364543;12364471;12354428;12235167;12116231;12082592;12006918;11971936;11968086;11947893;11752456;11533368;11512679;11454011;11427182;11322655;11181756;11171287;10660332;10391209;9645503;8865180;8865179;7721852;3692485;2828141;2605236;2324091;1671786;1301939;22262398;21189265;21252145;19136429;19170196;19534808;19558527;19578796;19625176;19656773;19689828;19691831;19692168;19695855;19729601;19734193;19773416;19783858;19810818;19876004;19878569;19913121;19936222;20031551;20160193;20167577;20186155;20222961;20384434;20385819;20385826;20400780;20403997;20430392;20444273;20452482;20492333;20888482;20691829;20822508;20851298;20855565;20536507;20565774;20602615;20628086;20634891;20673868;20679960;20682687;20595410;20864672;21139980;21386085;20373033;23535033;21665990;21447678;21352420;21548985;21371711;21750705;21960661;23505323;21988832;23457133;22047520;22073289;21261091;22294764;20686565;21943158;22286219;22359512;22399527;22464213;22935046;23348725;23144319;23222517;23251661;23281178;23343765;23455636;22916037;21986251;23181436;20125193 3990 A6H8L5;E7EUJ1;E7EUK6;P11150 ABBA01038984;AC018904;AC084781;AF037404;AI823349;AK290062;AK292631;AK293324;AK309448;AK315306;AMYH01006679;AV645541;BC132825;BC136495;BC146659;CH471082;D83062;D83548;J03540;J03895;M29194;M35433;NG_011465;NM_000236;X07228 AAA59520;AAA59521;AAA61165;AAB60702;AAC34206;AAI32826;AAI36496;AAI46660;ADR83028;BAA11760;BAA12014;BAF82751;BAF85320;BAG37710;BAG56842;CAA30188;EAW77536;NP_000227;P11150 Hs.654472 1337709;1680906;1694516;1709636;1718227;1722423;1741557;1742341;1793300;2115386;2122553;2144965;2175055;5015961;5494163 D15S1033;D15S1272;D15S1477;G43001;G60285;GDB:181520;GDB:196354;L17844;PMC20757P1;RH122883;RH71438;RH79657;SHGC-85181;WI-11458;fb73a01.x1 HDLCQ12;HL;HTGL;LIPH OTTHUMP00000163470;hepatic lipase;hepatic triacylglycerol lipase;lipase member C APPROVED protein-coding ENSG00000166035 6619 01058 125853;151670;612797;614025 REVIEWED 1320217 LIPK lipase, family member K 10 10 10 q23.31 84231123 84259400 + 90474281 90502493 + 90484301 90512513 + 17562024 643414 Q5VXJ0 ABBA01021953;AL358532;AMYH01002933;EF426482;NM_001080518 AAI52925;ABR08387;NP_001073987;Q5VXJ0 Hs.632092 LIPL2;bA186O14.2 OTTHUMP00000020036;lipase K;lipase member K;lipase-like abhydrolase domain-containing protein 2;lipase-like, ab-hydrolase domain containing 2 protein-coding ENSG00000204021 23444 613922 PROVISIONAL 736562 LIPA lipase A, lysosomal acid, cholesterol esterase This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q23.2-q23.3 90963309 91001640 - 90973326 91011660 - 1600620;1600621;1300048;1580863;6480464;7240710 8146180;6097111 1718995;19343046;19307143;18996102;18796546;16806233;16730122;16344560;16131527;16024911;16013913;15489334;15465627;15164054;14702039;12477932;12162818;9705237;9633819;8956047;8725147;8432549;8254026;8125298;8112342;7759067;16385451;20237496;20379614;23164340;17207965;19913121;20602615;20628086;21606135;21378988;21900179;22395809;21890473;21963785;22227072;19322201 3988 P38571;Q5T073;Q5T770 ABBA01021949;AK091558;AK096406;AK125193;AK130882;AK222760;AK290241;AK293491;AK297079;AK314665;AL353751;AL513533;AMYH01002934;AU135835;BC012287;CA435432;CH471066;DA275550;M74775;NG_008194;NM_000235;NM_001127605;S68069;U04285;U08464;X76488;Z31690 AAA59519;AAB29185;AAB60327;AAB60328;AAH12287;ADQ31728;BAC86078;BAD96480;BAF82930;BAG37222;BAG52380;BAG53281;BAG56978;BAG59596;CAA54026;CAA83495;EAW50140;EAW50141;EAW50142;NP_000226;NP_001121077;P38571 Hs.643030 1680651;1743183;1770159;1797826;2114781;2132844;2151122 GDB:289781;LIPA_898.2;RH80870;STS-H84912;STS-M74775;WI-18437;WI-18793 CESD;LAL OTTHUMP00000020066;OTTHUMP00000020067;OTTHUMP00000020068;OTTHUMP00000020069;acid cholesteryl ester hydrolase;cholesterol ester hydrolase;cholesteryl esterase;lipase A, lysosomal acid, cholesterol esterase (Wolman disease);lysosomal acid lipase;lysosomal acid lipase/cholesteryl ester hydrolase;sterol esterase APPROVED protein-coding ENSG00000107798 6617 02044 278000;613497 REVIEWED 1349924 LIPN lipase, family member N The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011] 10 10 10 q23.31 84268049 84284832 + 90511143 90527979 + 90521163 90537999 + 6480464 17562024;21439540 643418 Q5VXI9 ABBA01021953;AL358532;AMYH01002933;EF426483;NG_031911;NM_001102469 ABR08388;NP_001095939;Q5VXI9 Hs.632091 ARCI8;LI4;LIPL4;bA186O14.3 OTTHUMP00000020037;lipase N;lipase member N;lipase-like abhydrolase domain-containing protein 4;lipase-like, ab-hydrolase domain containing 4 APPROVED protein-coding ENSG00000204020 23452 613924;613943 REVIEWED 737132 LIPE lipase, hormone-sensitive The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008] 19 19 q13.2 47597506 47623418 - 42905666 42931578 - 1625026;1581867;1580863;1300048;2313581;2313584;2313580;2313583;6480464;6907045 17318300;10729384;11016888;15609025;17712951;18413675 21933124;17026959;3420405;19369647;19336475;19164092;19018281;18996102;18824087;18820256;18660489;18398140;18383440;18249203;17587400;17356053;17327373;17074755;16940551;16906479;16822962;16752181;16690773;16534522;16328496;16243839;15871848;15697220;15654127;15627655;15489334;15456755;15345679;15308678;15260473;15231718;14984467;14745722;14641008;12970365;12925534;12864745;12832420;12765952;12730334;12727985;12701046;12562895;12534454;12518034;12514936;12477932;12364542;11979403;11850754;11846402;11812735;11791141;11731226;11581251;11574428;11063252;11026666;10694408;10445032;10318917;9417067;8812477;8506334;7698015;16169070;21680814;19913121;20628086;19433586;19491387;19695247;20017959;20495294;20734064;20855565;21081692;21241784;21498783;23688034;20926921;22553833;21906983;21919688;21543206;21826994 3991 M0QXB1;M0QXM5;M0QY29;M0QYP8;M0R201;M0R2G1;Q05469 ABBA01040847;AC011497;AK292482;AMYH01009832;BC029301;BC029961;BC070041;CH471126;DQ188033;L11706;NM_005357;U40002 AAA69810;AAC50666;AAH70041;ABA03168;BAF85171;EAW57135;NP_005348;Q05469 Hs.656980 1673263;1683757;1790275;2115152;2131991;5094912 G15903;LIPE;LIPEHSP92I;RH78664;RH79209;RH98494 HSL;LHS hormone-sensitive lipase;hormone-sensitive lipase testicular isoform;lipase, hormone sensitive APPROVED protein-coding ENSG00000079435 6621 01062 151750 REVIEWED 4889222 LIPT1P1 lipoyltransferase 1 pseudogene 1 13 13 13 q33.1 83497261 83498427 + 101452572 101453650 + 102654480 102655646 + 100131188 ABBA01027078;AL512629;AMYH01005340;NG_008317;NG_021973 pseudo 39278 INFERRED 1321819 LIPG lipase, endothelial The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008] 18 18 q21.1 45342425 45373276 + 47088427 47119278 + 1580864;1580865;1581874;1581875;1580863;1641818;1601237;1641819;6480464 16023652;16354105;15304490;15914124;17526978;17016617;16772345 19380136;17093291;10318835;15231747;19136670;10192396;19411665;19287092;19148283;19060911;19060906;18996102;18988890;18683147;18193044;18193043;18039650;17986713;17822686;17700364;17651673;17644777;17570372;17545692;17495604;17356047;17322565;16980590;16940551;16877778;16335952;16039280;15961789;15576837;15485805;15342690;15117821;14667806;14517167;12975309;12966036;12884003;12867537;12601178;12569156;12477932;12164779;12032167;14499622;20045866;19780863;19913121;20571754;20602615;20628086;20679960;20621031;17207965;20691829;20855565;20923576;20972250;19411705;19567873;19578796;19878569;19948975;20031538;20167577;20370913;20394740;20466371;20864672;20688330;21130993;21145773;21816559;21852675;21957202;22174694;21122200;20686565;22286219;22464213;22740344;22972429;23102786;23075452;23251661;22723003;23510199;22952570 9388 B4DTR8;J3KTN7;J3QQQ0;Q9Y5X9 ABBA01018655;ABBA01018656;ABBA01018657;AC091170;AF118767;AI861822;AK124636;AK125344;AK291799;AK300333;AK315252;AMYH01008990;AMYH01008991;AY358928;BC060825;CH471096;EU332856;NM_006033 AAD30434;AAH60825;AAQ89287;ABY87545;ADQ32526;BAF84488;BAG37674;BAG62080;EAW62947;EAW62948;EAW62949;NP_006024;Q9Y5X9 Hs.465102 1792490;1796252;2170107 D18S1238;LIPG_900;PMC151857P1 EDL;EL;PRO719 endothelial cell-derived lipase;endothelial lipase;lipoprotein lipase H APPROVED protein-coding ENSG00000101670 6623 04730 603684 REVIEWED 1343616 LIPF lipase, gastric This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 10 10 q23.31 90414074 90428552 + 90424146 90438572 + 1580863;6480464 2753032;3304425;18996102;18681781;16344560;16341674;15489334;12941646;12477932;11940604;11241664;11099794;10700046;10411623;10358049;10208872;10092305;9468252;9323599;9186906;8359655;8125298;8049245;3181673;16385451;20043075;15342556;20965171;19913121;20602615;20628086;20885390;21163940;21945702 8513 P07098;Q658L8 A01046;A12714;ABBA01021954;AK223468;AK301310;AK301320;AK308224;AK310128;AK312940;AL358532;AL833751;AMYH01002933;AY631869;BC112272;BC113711;BM797485;BP341513;CH471066;DA967766;NM_001198828;NM_001198829;NM_001198830;NM_004190;X05997 AAI12273;AAI13712;AAT38115;ADR83149;BAD97188;BAG35782;BAH13457;BAH13459;CAA00125;CAA01053;CAA29413;CAA29414;CAH56244;EAW50161;EAW50162;EAW50163;NP_001185757;NP_001185758;NP_001185759;NP_004181;P07098 Hs.523130 1646309;1857960;1858289;2217560 D10S1411;LIPF_3021;STS-X05997;WI-16578 GL;HGL;HLAL;MGC138477;MGC142271 OTTHUMP00000020038;OTTHUMP00000020039;gastric lipase;gastric triacylglycerol lipase APPROVED protein-coding ENSG00000182333 6622 09063 601980 REVIEWED 1603579 LIPJ lipase, family member J 10 10 10 q23.31 84093334 84113548 + 90336499 90356712 + 90346519 90366733 + 12477932 142910 H0YDS3;Q5W064 ABBA01021955;AL139406;AMYH01002933;BC031219;BC042900;CH471066;NM_001010939 AAH31219;EAW50165;EAW50166;NP_001010939;Q5W064 Hs.440959 FLJ11218;LIPL1;bA425M17.2 OTTHUMP00000020033;lipase J;lipase member J;lipase-like abhydrolase domain-containing protein 1;lipase-like, ab-hydrolase domain containing 1 protein-coding ENSG00000204022 21773 17281 613921 VALIDATED 2947567 LIPT2 lipoyl(octanoyl) transferase 2 (putative) 11 11 11 q13.4 71509689 71511520 - 73879846 73885491 - 74202923 74204755 - 6480464;6907045 11181995;15146197;20877624 387787 A6NK58;H0YC96;H0YD50 ABBA01017486;AMYH01003813;AP001372;CH471076;CN348282;CX752266;NM_001144869 A6NK58;EAW74939;NP_001138341 Hs.591971 2186162 STS-AA040074 OTTHUMP00000230589;OTTHUMP00000230590;OTTHUMP00000230591;lipoate-protein ligase B;lipoyl/octanoyl transferase;octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase;putative lipoyltransferase 2, mitochondrial;putative octanoyltransferase, mitochondrial protein-coding ENSG00000175536 37216 VALIDATED 1312623 LIPM lipase, family member M 10 10 10 q23.31 84309321 84327123 + 90552467 90570238 + 90562487 90580303 + 6480464 17562024;12477932 340654 B2RXK7;Q5VYY2 ABBA01021953;AL353113;AL358532;AMYH01002933;BC157888;BC171908;EF426484;NM_001128215 AAI57889;AAI71908;ABR08389;NP_001121687;Q5VYY2 Hs.55118 1711022;1717365;2130296 RH122173;SHGC-57024;SHGC-84891 LIPL3;bA304I5.1 OTTHUMP00000020040;lipase M;lipase member M;lipase-like abhydrolase domain-containing protein 3;lipase-like, ab-hydrolase domain containing 3 protein-coding ENSG00000173239 23455 613923 VALIDATED 1320902 LIPH lipase, member H This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008] 3 3 q27 186708264 186753063 - 185225570 185270369 - 1580863;6480464;7240710 19167195;18830268;18795930;18445047;17333281;17095700;15520410;15489334;14702039;12963729;12719377;12477932;12213196;12063250;18820939;19262606;19536142;19766349;19892526;20107739;17207965;20213768;21426374;21352330;21857648;21906983;22125978;22475755;23066499 200879 A2IBA6;F8WE09;H7BZL3;H7C2X1;Q8WWY8 ABBA01058419;AC099661;AK074229;AK122651;AK298380;AMYH01013728;AY036912;AY093498;BC064941;BI965988;CH471052;EF186228;EF186229;NG_012183;NM_139248 AAH64941;AAK63178;AAM18803;ABM67094;ABM67095;ADQ32559;BAB85023;BAG53642;BAG60616;EAW78218;NP_640341;Q8WWY8 Hs.68864 1339999;1340035;1341231 D3S1602;D3S2314;D3S3592 AH;ARWH2;LAH2;LPDLR;PLA1B;mPA-PLA1 LPD lipase-related protein;OTTHUMP00000210343;OTTHUMP00000210344;lipase H;lipase member H;mPA-PLA1 alpha;membrane-associated phosphatidic acid-selective phospholipase A1-alpha;membrane-bound phosphatidic acid-selective phospholipase A1;phospholipase A1 member B APPROVED protein-coding ENSG00000163898 18483 07392 125853;604379;607365;612797;614025 REVIEWED 1349298 LLP lactation, late, protein (macropodids) 3997 6630 1350339 LIX1L Lix1 homolog (mouse)-like 1 1 1 q21.1 119680440 119702442 + 144188442 144210448 + 145477085 145499091 + 737633;6480464 12477932 15489334 128077 Q8IVB5 ABBA01005742;ABBA01005743;AC243547;AK123675;AK128733;AL160282;AMYH01001373;BC035727;CH471244;CR627381;NM_153713 AAH35727;BAG54720;CAH10478;EAW71416;EAW71417;NP_714924;Q8IVB5 Hs.740619 1658744;1695340;1698254;5014051;5015619;5015879;5015881;5016478;5020414;5020946;5022578;5024039;5037552 D11S3114;D16S325;D1S1423;D8S2278;D8S2279;GDB:314949;GDB:335751;GDB:434012;L17688;L17971;RH102663;SHGC-3211;SHGC-64769 DKFZp762F237;MGC46719 LIX1-like protein;OTTHUMP00000015578 protein-coding 28715 14653 VALIDATED 1343566 LIX1 Lix1 homolog (chicken) 5 5 5 q15 92311977 92362917 - 96453330 96504195 - 96427574 96478520 - 6480464 11731258;18395445;15489334;14702039;12638132;12477932;19664890;19834535 167410 D6RID5;Q8N485 ABBA01069224;AC008865;AK098400;AK291034;AK307885;AMYH01015491;BC036467;CH471084;NM_153234 AAH36467;BAC05298;BAF83723;EAW96086;EAW96087;NP_694966;Q8N485 Hs.656702 1682988;1723745;1739885;1773072;1850833;2183465;5016006 D5S1934;D5S2426;D5S2466;HSCZSH042;LIX1;RH118608;RH91721 C5orf11;FLJ25534 OTTHUMP00000158908;limb expression 1;protein limb expression 1 homolog protein-coding ENSG00000145721 18581 08069 610466 VALIDATED 1321082 LIPT1 lipoyltransferase 1 The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011] 2 2 2 q11.2 93976106 93984222 + 99137850 99146043 + 99771418 99779620 + 6480464;6907045 10103005;15489334;12477932;9405389;8206978;16169070;17207965;20877624;11042152;16344560;21832049;21926972;20972266;21890473 51601 C9J6A9;C9J7C5;C9JUU5;C9JW10;Q9Y234 AA811675;AB017566;AB017567;ABBA01073951;AC092587;AMYH01010804;BC007001;BC009772;BC070145;BG717409;BQ422048;BQ432795;BX100979;CH471127;DA607268;NM_001204830;NM_015929;NM_145197;NM_145198;NM_145199;NR_037935;NR_037936 AAH07001;AAH09772;AAH70145;AAX88927;ADQ32754;BAA76367;BAA76368;EAX01877;NP_001191759;NP_057013;NP_660198;NP_660199;NP_660200;Q9Y234 Hs.719172;Hs.739177 1648285;1679355;1768679;1768681;2107269 LIPT1__6399;RH79092;RH80012;WI-18450;WI-18495 MGC12290;MGC13378 OTTHUMP00000161220;OTTHUMP00000203291;OTTHUMP00000203292;OTTHUMP00000203293;OTTHUMP00000203294;lipoate biosynthesis protein;lipoate-protein ligase;lipoyl ligase;lipoyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000144182 29569 17282 610284 REVIEWED 735583 LITAF lipopolysaccharide-induced TNF factor Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppresor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2008] 16 16 p13.13 11549357 11587730 - 11641578 11681322 - 1580863;6480464;7240710 10200294;15064722;12761501;18029348;19305408;16912585;16872372;16804395;16787513;16373087;16344560;15793005;15786462;15776429;15489334;15197774;15122712;14702039;14641644;12525712;12477932;11713717;11274176;9305847;11042109;15231748;16169070;18078129;19170196;19305409;19625176;19692168;21347282;21217782;21362361;21326863;21896645;23275563;16118794;19322201;20957525;21139048;21836606;21890473;20301384;20709679;23128233;23166209;23166352 9516 I3L133;I3L1H3;I3L1I9;I3L1P1;I3L1R0;I3L2E2;I3L2T1;I3L2T6;I3L329;I3L3U8;I3L409;Q99732 AA625937;AB034747;ABBA01006822;ABBA01006823;AC007616;AC099489;AF010312;AK095955;AK130788;AK314519;AMYH01007155;BC000053;BC008309;BC016491;BC039840;BC046154;BC065293;BC096063;BC096064;BC096065;BC096066;BC101401;BC101402;BC101969;BI858484;BX537543;CH471112;DA955452;NG_009008;NM_001136472;NM_001136473;NM_004862;NR_024320;U77396 AAB36550;AAC39530;AAH00053;AAH08309;AAH16491;AAH39840;AAH46154;AAH96063;AAH96065;AAH96066;AAI01402;AAI01403;AAI01970;ABZ92218;ACE86599;ACE87280;BAB32547;CAD97778;EAW85148;EAW85149;EAW85150;EAW85151;EAW85152;EAW85153;NP_001129944;NP_001129945;NP_004853;Q99732 Hs.459940 1335387;1339916;1725747;1737583;1852079;1855165;2114264 D16S2671;D16S3304;D16S519;D16S764;G62064;RH70306;SHGC-61147 FLJ38636;MGC116698;MGC116700;MGC116701;MGC125274;MGC125275;MGC125276;PIG7;SIMPLE;TP53I7 lipopolysaccharide-induced TNF-alpha factor;lipopolysaccharide-induced tumor necrosis factor-alpha factor;p53-induced gene 7 protein;small integral membrane protein of lysosome/late endosome;tumor protein p53 inducible protein 7 APPROVED protein-coding ENSG00000189067 16841 10354 601098;603795 REVIEWED 1604260 LLPH LLP homolog, long-term synaptic facilitation (Aplysia) 12 12 12 q14.3 66183159 66190843 - 64803109 64810800 - 66516849 66524533 - 6480464 16189514;15489334;14702039;12477932;21832049;20360068;21628590 84298 Q9BRT6 ABBA01026577;AC078927;AK057947;AK091568;AMYH01004553;BC006002;BC070232;BC107780;BM996194;CH471054;CS300557;NM_032338 AAH06002;AAH70232;AAI07781;BAC03699;CAK32221;EAW97155;EAW97156;NP_115714;Q9BRT6 Hs.504820 2107359;5022588;5037552 D5S1597E;D8S2279;MGC14817__7671 C12orf31;MGC104302;MGC14817;hLLP OTTHUMP00000239823;human LAPS18-like protein;protein LAPS18-like;protein LLP homolog protein-coding ENSG00000139233 28229 11308 VALIDATED 1353110 LLGL2 lethal giant larvae homolog 2 (Drosophila) The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 70142313 70161385 + 71033378 71082885 + 73521783 73571290 + 6480464 19403135;18199550;18155665;15632202;15489334;14702039;12725730;12477932;19407852;19851296;20198315;20233622;18029348;20941506;14676191;20360068;21890473;21906983;23000965;23110097;22580609;23332925 3993 A0PJJ0;J3KRE1;J3KSD5;J3QKM6;J3QL58;J3QLD8;J3QLV4;J3QRV5;J3QRZ8;J3QS20;J3QSA6;Q6P1M3 ABBA01028779;ABBA01028780;ABBA01028781;ABBA01028782;ABBA01028783;ABBA01028784;ABBA01028785;ABBA01028786;AC100787;AK025401;AK125563;AK126687;AK301204;AK315126;AMYH01008635;BC006503;BC010879;BC031842;BC064994;BC067840;CH471099;NM_001015002;NM_001031803;NM_004524;X87342 AAH06503;AAH10879;AAH31842;AAH64994;BAG54359;BAG62781;CAA60780;EAW89280;EAW89281;EAW89282;EAW89283;NP_001015002;NP_001026973;NP_004515;Q6P1M3 Hs.514477 1676840;1677738;1773536;2152358;2191575;5100464 D17S631;D17S714;MARC_26641-26642:1036186601:1;RH70937;RH79176;RH98802 HGL;LGL2 human giant larvae homolog;lethal(2) giant larvae protein homolog 2 APPROVED protein-coding ENSG00000073350 6629 10041 REVIEWED 733152 LLGL1 lethal giant larvae homolog 1 (Drosophila) This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 p11.2 18069661 18088914 + 18128936 18148189 + 1580863;6480464 7542763;18074678;17369850;16170365;15735678;15489334;15467749;12725730;12477932;9177775;8565641;11997338;11714708;16169070;18793635;19447873;19913121;20628086;20562859;20811636;14676191;20829363;21078624;21139048;21890473;19322201;21145461;22843887;21963094;23000965;23110097;23277453 3996 Q15334 ABBA01009736;AC109515;AC127537;AMYH01008166;BC028037;BC028214;BC051466;BC151838;BQ923585;BQ937224;CH471196;D50550;NM_004140;X86371 AAH28037;AAH28214;AAI51839;AAI67831;BAA19516;CAA60130;EAW55657;EAW55658;EAW55659;EAW55660;NP_004131;Q15334 Hs.513983 1684236;1689296;5037552;5119193 D17S1711;D8S2279;RH39400;SHGC-12561 DLG4;HUGL;HUGL-1;HUGL1;LLGL OTTHUMP00000065700;human homolog to the D-lgl gene protein;lethal(2) giant larvae protein homolog 1 APPROVED protein-coding ENSG00000131899 6628 02982 600966 REVIEWED 732234 LMAN1 lectin, mannose-binding, 1 The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq, Jul 2008] 18 18 q21.3-q22 55148088 55177463 - 56995055 57026508 - 1600100;1580863;6480464;6907045;7240710 9546392 19913121;20628086;7876089;19118014;18974842;18577465;18508857;18391077;18287528;18025080;17535801;17496053;17010120;16938437;16735443;16670774;16257008;16114131;16054885;16044454;15886209;15728497;15716605;15632110;15489334;15308636;15292203;15166951;15145932;15117939;14732744;14629470;14593599;12727195;12717434;12672193;12665801;12477932;12175909;11992290;11840567;11607788;11561111;11333866;10090935;9245995;8854877;8223692;8205612;8125298;12560567;12487819;10725420;8666845;8267903;15572157;12941144;19850743;19380618;19423540;20007547;20138881;20237496;20406964;20438785;9774442;20460353;21832049;22939629;21963094;23000965;18781797;21139048;21890473;21906983;19322201;19342655;22337587;22764119;22190034 3998 Q53FS4;Q9UQG6 ABBA01056168;AC016229;AC067859;AF081866;AF081867;AF081869;AF081871;AF081873;AF081875;AF081877;AF081879;AF081880;AF081882;AF081884;AF081885;AI280513;AK025773;AK223208;AK225108;AK225111;AK301244;AK312869;AMYH01009034;AMYH01009035;BC008401;BC017858;BC032330;CH471096;DC308886;NG_012097;NM_005570;U09716;X71661 AAA95960;AAD32479;AAD32480;AAD32481;AAD32482;AAD32483;AAD32484;AAD32485;AAD32486;AAD32487;AAD32488;AAD32489;AAD32490;AAH17858;AAH32330;ABM82180;ABM85366;BAD96928;BAG35721;BAG62812;CAA50653;EAW63096;EAW63097;EAW63098;NP_005561;P49257 Hs.465295 1650948;1712537;1734600;1852303;1857594;2144837;2166513;2184297 D18928;D18S896E;D18S948E;RH47264;RH48271;SHGC-12001;STS-U09716;WI-11993 ERGIC-53;ERGIC53;F5F8D;FMFD1;MCFD1;MR60;gp58 ER-Golgi intermediate compartment 53 kDa protein;OTTHUMP00000163644;endoplasmic reticulum-golgi intermediate compartment protein 53;intracellular mannose specific lectin;intracellular mannose-specific lectin MR60;protein ERGIC-53 APPROVED protein-coding ENSG00000074695 6631 03338 227300;601567 REVIEWED 1321499 LMAN1L lectin, mannose-binding, 1 like 15 15 15 q24.1 52055222 52068128 + 72892247 72905152 + 75105194 75118099 + 1580863;6480464;6907045 11255007;18283111;18056485;17805346;15489334;14702039;12975309;12880961;12477932;21490707;19430483;20237496;20379614 79748 H3BN74;H3BSC9;Q9HAT1 ABBA01060504;ABBA01060505;AC091230;AF303398;AK092591;AK291819;AK294807;AK300517;AK309976;AMYH01006794;AY358724;CH471136;NM_021819 AAG30902;AAI56428;AAI72487;AAQ89086;BAF84508;BAG57926;BAG62229;EAW99308;EAW99309;EAW99310;NP_068591;Q9HAT1 Hs.620644 ERGIC-53L;ERGL ERGIC-53-like protein;ERGIC53-like protein;LMAN1-like protein;OTTHUMP00000183470;lectin mannose-binding 1-like;protein ERGIC-53-like protein-coding ENSG00000140506 6632 17284 609548 VALIDATED 1603597 LMBRD2 LMBR1 domain containing 2 5 5 5 p13.2 35989107 36037708 - 36139171 36187772 - 36103414 36152015 - 6480464 14702039;12477932;19176441;21987572 92255 B4DTZ7;Q68DH5 ABBA01024162;AC008942;AK091295;AK300433;AK307575;AL137370;AMYH01015025;BC110506;BC110507;BI559676;BX647340;CH471119;CR749399;NM_001007527 AAI10507;BAG52328;BAG62159;CAB70714;CAH18245;EAW55932;EAW55933;NP_001007528;Q68DH5 Hs.294103 1755205 SHGC-142113 DKFZp434H2226;DKFZp686G1057;MGC125692;MGC125693 LMBR1 domain-containing protein 2;OTTHUMP00000221402 protein-coding 25287 16813 VALIDATED 1319046 LMAN2 lectin, mannose-binding 2 This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008] 5 5 q35.3 176691357 176711254 - 176758563 176778885 - 1580863;6480464;6907045 17586539;17169971;16129679;15489334;15308636;12878160;12754519;12609988;12517452;12477932;11359937;10444376;8125298;18025080;20477988;20383146;22939629;22703881;16009940;18781797;21987572;21139048;21890473;21906983;21988832;23000965;23246001;23269669;22190034;22645275 10960 D6RBH1;D6RBV2;D6RDX1;D6RIU4;Q12907 ABBA01033457;ABBA01033458;AC146507;AK222609;AK292099;AK301607;AK308027;AMYH01015872;AMYH01015873;BC017263;CH471195;DC404202;NM_006816;U10362 AAA19572;AAH17263;ADZ15747;BAD96329;BAF84788;BAG63093;EAW85014;EAW85015;NP_006807;Q12907 Hs.75864 1338207;1660703;1664864;5016590;7186397 D5S2435;D5S469;GDB:625967;STS-U10362 C5orf8;GP36B;VIP36 OTTHUMP00000161453;OTTHUMP00000223591;OTTHUMP00000223592;OTTHUMP00000223593;glycoprotein GP36b;vesicular integral protein of 36 kDa;vesicular integral-membrane protein 36;vesicular integral-membrane protein VIP36 APPROVED protein-coding ENSG00000169223 16986 17285 609551 REVIEWED 1322831 LMAN2L lectin, mannose-binding 2-like 2 2 2 q11.2 91812913 91845986 - 96735393 96769528 - 97371666 97405813 - 1580863;6480464 16381901;16303743;15815621;15489336;15489334;12975309;12477932;11230166;11076863;8125298;18025080;12609988;12878160;21139048;21926972;22182935 81562 B4DSH3;B4DVH1;F2Z2L5;F5GWW9;F8WB07;F8WCX4;F8WEK5;Q9H0V9 ABBA01036583;ABBA01036584;AC068539;AJ549957;AK075347;AK222828;AK295463;AK299740;AK301077;AK304515;AK308085;AK310100;AK312249;AK316331;AL136617;AMYH01010726;AY358929;BC000347;BC004505;BC005822;BC005862;BC067265;BX648002;CH471207;NM_001142292;NM_030805;NR_024518;NR_024519;NR_024520;NR_024521 AAH00347;AAH05822;AAH05862;AAH67265;AAQ89288;AAX93211;ACE86555;ACE87237;BAC11559;BAD96548;BAG35181;BAG58395;BAG61635;BAG62683;BAG65320;BAH14702;CAB66552;CAD71268;CAH56196;CAL37585;EAW71341;EAW71342;EAW71343;EAW71344;NP_001135764;NP_110432;Q9H0V9 Hs.655743 1654527;1693726;1751507;2166704;2168706 A005U03;Cda0ma07;D2S1990;SHGC-105336;SHGC-58649 DKFZp564L2423;MGC11139;VIPL LMAN2-like protein;OTTHUMP00000161010;OTTHUMP00000207550;VIP36-like protein protein-coding ENSG00000114988 19263 17286 609552 VALIDATED 7056190 LMCD1-AS1 LMCD1 antisense RNA 1 (head to head) 3 p26.1 8262834 8543344 - 17903294;20379614 100288428 ABBA01020417;ABBA01020418;ABBA01020419;ABBA01020420;ABBA01020421;ABBA01020422;AC023481;AC087589;AC087859;AK124088;AMYH01012961;AMYH01012962;NR_033378 BAG54005 Hs.651576 1338456;1340651;1679337;1706122;1710718;1722153;1754515;1757255;1787500;1787502;1997950 D16S3131;D3S1537;G60126;REN69886;RH80992;SHGC-132793;SHGC-144674;SHGC-155428;SHGC-155429;SHGC-80102;SHGC-83688 miscrna ENSG00000227110 44477 VALIDATED 1322938 LMLN leishmanolysin-like (metallopeptidase M8 family) This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 3 3 3 q29 196303224 196385377 + 199171468 199254988 + 197687071 197770591 + 1580863;6480464 16344560;15557119;18029348;19706689 89782 B4DR62;C9JF40;F8WCE5;Q96KR4 ABBA01007557;ABBA01007558;ABBA01007559;AC135893;AI967988;AJ312398;AJ312399;AK299119;AL832783;AM920777;AM920778;AMYH01013810;CH471252;DB054915;NM_001136049;NM_033029;NR_026786;NR_026787 AAI46294;AAI48742;BAG61174;CAC42882;CAC42883;CAP49203;CAP49204;EAW92251;EAW92252;EAW92253;NP_001129521;NP_149018;Q96KR4 Hs.518540 1653217;2172710;2186896 G16589;G30979;SHGC-77716 GP63;INV;IX14;MSP OTTHUMP00000207833;OTTHUMP00000207834;OTTHUMP00000207835;OTTHUMP00000207836;invadolysin;leishmanolysin-2;leishmanolysin-like peptidase APPROVED protein-coding ENSG00000185621 15991 07023 609380 REVIEWED 6481414 LMLN-AS1 LMLN antisense RNA 1 100873947 AC135893 APPROVED miscrna 40738 733977 LMBRD1 LMBR1 domain containing 1 This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009] 6 6 6 q13 70774043 70895462 - 70442470 70563609 - 70385641 70507049 - 6480464;7240710 19136951;15956556;15489334;14702039;14574404;12477932;11042152;8125298;20339536;16344560;20127417;22939629;20446115;23175358;21303734;21963094;20301503 55788 Q9NUN5 AB074281;ABBA01008894;ABBA01008895;ABBA01008896;AF113224;AF208863;AF211480;AK002102;AK021916;AK225187;AK225537;AK290069;AL358133;AL583831;AL590702;AMYH01016412;AY136817;BC010360;BC047073;BJ995961;BX647737;CH471051;DA028310;NG_016012;NM_018368 AAF64277;AAG39295;AAH10360;AAH47073;AAK26247;AAN11301;BAA92087;BAF82758;EAW48831;EAW48832;EAW48833;EAW48834;EAW48835;NP_060838;Q9NUN5 Hs.271643;Hs.736005 1650653;1770941;1968560;2154674;2175540 1030;1062;D6S343E;REN55157;WI-13678 C6orf209;FLJ11240;FLJ11854;LMBD1;MAHCF;NESI;RP11-810I22.1;bA810I22.1;cblF HDAg-L-interacting protein NESI;LMBR1 domain-containing protein 1;OTTHUMP00000016692;OTTHUMP00000016693;OTTHUMP00000016694;hepatitis delta antigen-L interacting protein;liver regeneration p-53 related protein;nuclear export signal-interacting protein;probable lysosomal cobalamin transporter APPROVED protein-coding ENSG00000168216 23038 12877 277380;612625 REVIEWED 1352056 LMBR1 limb development membrane protein 1 This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008] 7 7 q36 156166331 156378663 - 156473570 156685902 - 6480464;7240710 19136951;18698406;17300748;17152067;16381901;16344560;15489336;15489334;14727139;14702039;12853948;12837695;12690205;12491086;12477932;12032320;11606546;11333865;11090342;11076863;10945466;10329000;9847074;8533803;22495965;20068592;20379614;20446115;22786669;21139048;21906983 64327 B7Z633;F2Z2Z3;F8WB14;F8WCL1;F8WDW0;F8WEK4;F8WEN8;H0Y6V6;H7C1Y4;Q8NDP7;Q8WVP7 AACC02000068;ABBA01032374;ABBA01032375;ABBA01032376;AC005534;AC007075;AC007097;AF063592;AF348513;AF402318;AK021727;AK026940;AK291037;AK299753;AL833934;AL834394;AMYH01018188;BC017663;BC063649;CH236954;CH471149;DA238712;H18430;NG_009240;NM_022458 AAD43188;AAF03516;AAG43151;AAH17663;AAK31345;AAK94061;AAS00382;BAB13880;BAB15595;BAF83726;BAH13119;CAD38789;CAD39056;CAL37499;CAL38021;CAL38132;CAL38703;EAL23920;EAX04559;EAX04560;EAX04561;EAX04562;NP_071903;Q8WVP7 Hs.209989 1299922;1659095;1666392;1671157;1687606;1687818;1691298;1694884;1709958;1735680;1789494;1789552;1847142;1847826;2121136;2184903 D7S2078E;D7S2112E;D7S2138E;D7S3159;D7S3164;D7S559;G44324;GDB:1317756;GDB:1318256;RH92221;RH98325;SHGC-30207;SHGC-36739;SHGC-53202;SHGC-57287;SHGC-82247 ACHP;C7orf2;DIF14;FLJ11665;PPD2;TPT;ZRS OTTHUMP00000211717;OTTHUMP00000211720;chromosome 7 open reading frame 2;differentiation-related gene 14 protein;limb region 1 homolog;limb region 1 protein homolog APPROVED protein-coding ENSG00000105983 13243 05700 174500;186200;200500;605522 REVIEWED 1603995 LMBR1L limb development membrane protein 1-like 12 12 12 q13.12 48285709 48299467 - 47777189 47790947 - 49490922 49504680 - 6480464 19136951;17991420;16423471;16344560;15489334;14702039;12975309;12591932;12477932;11287427;10574461;20446115;21791187 55716 E7ESX7;F8VPB1;F8VVE2;F8VYZ9;F8VZU8;F8W054;F8W0N6;F8WE63;H0YHY8;H0YHZ2;H0YI83;H0YIX2;Q6UX01 AB033000;ABBA01031503;AC011603;AF260728;AF351620;AK001356;AK001651;AK093570;AK298026;AK298859;AK310064;AK310674;AL137599;AL556633;AMYH01004438;AY358572;BC008337;BC015015;BC031550;CH471111;DA012883;NM_018113 AAH08337;AAH15015;AAH31550;AAK60600;AAK63067;AAQ88935;ABM83333;ABM86545;BAA86488;BAA91646;BAA91811;BAG60328;BAG60981;CAB70835;EAW58040;EAW58041;EAW58042;EAW58043;EAW58044;EAW58045;EAW58046;EAW58047;NP_060583;Q6UX01 Hs.272838 1685760;2107267;2191093;5112321 LIMR__7410;MARC_14539-14540:1008957287:5;RH103359;RH93826 FLJ10494;FLJ36251;KIAA1174;LIMR OTTHUMP00000197702;OTTHUMP00000243728;limb region 1 homolog-like;limb region 1 protein homolog-like;lipocalin-1 interacting membrane receptor;lipocalin-1-interacting membrane receptor;lipocalin-interacting membrane receptor;protein LMBR1L APPROVED protein-coding ENSG00000139636 18268 17276 610007 VALIDATED 1354137 LMNL1 lamin A/C-like 1 8511676 4002 6639 1344804 LMNL2 lamin A/C-like 2 8511676 4003 6640 1606481 LMF2 lipase maturation factor 2 22 22 22 q13.33 34817402 34822161 - 49288246 49292979 - 50941376 50946135 - 6480464 15461802;12477932;21890473;21906983;22268729 91289 Q9BU23 ABBA01042627;ABBA01042628;AK130818;AMYH01012915;BC002942;BC014652;BC021143;BI917400;BU628394;BX412067;CH471138;CR456605;NM_033200;U62317 AAB03346;AAH02942;AAH14652;AAH21143;BAC85437;CAG30491;EAW73548;EAW73549;EAW73550;EAW73551;NP_149977;Q9BU23 Hs.150540 1678645 RH93825 TMEM112B;TMEM153 OTTHUMP00000196605;OTTHUMP00000218700;OTTHUMP00000218701;lipase maturation factor 2;transmembrane protein 112B;transmembrane protein 153 protein-coding ENSG00000100258 25096 12519 VALIDATED 1319043 LMCD1 LIM and cysteine-rich domains 1 This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 3 p26-p24 8480112 8546564 + 8518511 8584806 + 8543511 8609806 + 1580863;6480464 15489334;14702039;12477932;10662546;20098747;20379614;21832049;15146197;8889549;19616115;21996735;16199866;18816836;21629665 29995 B4DEY6;B4DG80;C9IYS1;F5GX84;F8WB09;H7C3D2;Q9NZU5 ABBA01020417;AC087859;AF169284;AF216709;AI693011;AI951010;AK022176;AK074448;AK293849;AK294455;AK300803;AMYH01012962;BC000646;BU619403;BX114807;CH471055;CN388104;N95437;NM_001278233;NM_001278234;NM_001278235;NM_014583;W47274 AAF34411;AAG36778;AAH00646;ABM82673;ABM85852;BAB13976;BAG57247;BAG57691;BAH13351;EAW63937;EAW63938;NP_001265162;NP_001265163;NP_001265164;NP_055398;Q9NZU5 Hs.475353;Hs.732705 1685007;1771002;1788690;1857840;2167267 RH118390;RH78679;RH93928;SHGC-76678;STS-N95054 LIM and cysteine-rich domains protein 1;OTTHUMP00000207035;OTTHUMP00000207036;dyxin APPROVED protein-coding ENSG00000071282 6633 06891 604859 REVIEWED 1348602 LMF1 lipase maturation factor 1 The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010] 16 16 16 p13.3 1107225 1239539 - 843635 960985 - 903634 1031318 - 6480464;7240710 17994020;16344560;15489334;15221005;14702039;12477932;11157797;8125298;8889548;19471043;19783858;19820022;20379614;23446634;21447484 64788 B3KS80;B4DFZ0;B4DH50;F5H152;F5H802;H3BN37;H3BP58;H3BQC9;H3BQT4;H3BSB7;H3BUN8;H3BVI4;Q96S06 AB075873;ABBA01030337;ABBA01030338;ABBA01030339;ABBA01030340;AC009041;AE006465;AK022743;AK025955;AK093050;AK125201;AK225065;AK225406;AK294329;AK294932;AL008727;AL031008;AL031716;AL832177;AMYH01007010;AMYH01007011;AMYH01007012;BC010738;BC014196;BC028099;BM017667;CA427159;CH471112;CK300754;CQ834724;DA200865;NG_021286;NM_022773;NR_033645;NR_033646;NR_036442;Z93041 AAH10738;AAH28099;AAI56646;AAK61259;BAB14218;BAB15295;BAD38655;BAG52642;BAG54164;BAG57601;BAG58011;CAH05577;EAW85696;EAW85697;EAW85698;EAW85699;EAW85700;NP_073610;Q96S06 Hs.71912 1674332;1731695;1767397;2127501;2181226;5019138 A004H36;D16S3341;D16S525;RH102409;RH48283;SHGC-60610 C16orf26;FLJ12681;FLJ22302;HMFN1876;JFP11;TMEM112;TMEM112A OTTHUMP00000045515;chromosome 16 open reading frame 26;lipase maturation factor 1;transmembrane protein 112 APPROVED protein-coding ENSG00000103227;ENSG00000260807 14154 07789 246650;611761 REVIEWED 733220 LMNB1 lamin B1 The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1. Alternative splicing results in transcript variants and a duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). [provided by RefSeq, Oct 2010] 5 5 q23.2 126140732 126200608 + 126112315 126172712 + 1580863;6480464;7240710 21909802;22446626;7557986;19383719;19348623;19198602;19151023;19141474;19001169;18524819;18334554;17550303;16543417;16410549;16365157;16344560;16283426;16236267;16216881;16083285;15635413;15284226;15265697;14504265;12898336;12490158;12477932;12135703;11901153;11792809;11790298;11691994;11331782;10960149;10806082;10679189;9490046;9436978;9367621;9305626;9243284;8838815;8034666;2544227;2406262;2325650;2023931;1986862;11095689;11441066;8324822;12670476;7628545;19522540;20004208;20085707;8978814;9128241;19961535;17620012;21225301;20816241;19454010;22863883;23106098;22939629;16196087;19471022;22265972;21346760;22246186;22496421;15161933;19765186;20360068;21139048;21549307;21890473;21897860;21906983;22155925;22178446;22658654;19322201;20230530;21628590;19727227;23261988;19738201;19805454;21963094;21988832;22623428;22751105;23000965;23439683;22053931;22268729;22505724 4001 B4DZT3;E9PBF6;P20700 ABBA01068886;ABBA01068887;ABBA01068888;AC137794;AK303084;AK312603;AMYH01015600;AMYH01015601;AU134245;AW512433;BC012295;BC052951;BC078178;BC103723;CH471086;L37737;L37738;L37739;L37740;L37741;L37742;L37743;L37744;L37745;L37746;L37747;M34458;NG_008360;NM_001198557;NM_005573 AAA36162;AAC37575;AAH12295;AAH78178;AAI03724;ABM82518;ABW03383;BAG35493;BAG64195;EAW48845;EAW48846;NP_001185486;NP_005564;P20700 Hs.89497 1334968;2109471;2182078 D5S804;LMNB1__6401;SGC33978 ADLD;LMN;LMN2;LMNB;MGC111419 OTTHUMP00000159218;lamin-B1 APPROVED protein-coding ENSG00000113368 6637 01036 150340;169500 REVIEWED 1352109 LMO1 LIM domain only 1 (rhombotin 1) This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012] 11 11 p15 8202433 8241982 - 8245851 8290182 - 1580863;6480464 15342556;2303035;17471240;16103065;15489334;12477932;11528126;10603358;9872335;9020185;8876198;8595880;8078932;7957052;3259177;2501659;2311586;2052354;2034676;1703797;1507224;9819382;21124317;17207965;20200953;20379614;21602560;23302769;22581228;15123239;22941191 4004 E9PK83;P25800 ABBA01028688;ABBA01028689;ABBA01028690;AC091013;AJ277662;AMYH01003374;AW006226;BC039512;BC069673;BC069752;BC069793;BC096056;BC096057;BC096058;BP218183;CH471064;M26682;NG_032827;NM_001270428;NM_002315;NR_073006;U73635;X64244 AAA36819;AAH39512;AAH69673;AAH69752;AAH69793;AAH96056;AAH96057;AAH96058;ADQ32867;CAC14587;EAW68626;NP_001257357;NP_002306;P25800 Hs.654426 1729045;1737833;2124113;2217562 D11S3445;D11S4594;LMO1_2846;Lmo1 MGC116692;RBTN1;RHOM1;TTG1 LIM domain only protein 1;LMO-1;OTTHUMP00000231156;OTTHUMP00000231157;OTTHUMP00000231239;T-cell translocation gene 1;T-cell translocation protein 1;cysteine-rich protein TTG-1;rhombotin-1 APPROVED protein-coding ENSG00000166407 6641 01738 186921 REVIEWED 6481430 LMO7-AS1 LMO7 antisense RNA 1 100873968 AL137244 APPROVED miscrna 39885 1345535 LMNB2 lamin B2 This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012] 19 19 p13.3 2379164 2407958 - 2428163 2456966 - 1580863;6480464;7240710 19165527;17290216;17081983;17070523;16826530;16543417;15611042;15489334;15284226;15057824;15024083;12912926;12902329;12477932;11691994;11207047;10960149;10835276;10806082;9436978;9243284;8543011;3515346;2544227;2406262;1939065;1630457;1291239;924328;15910003;20004208;9490046;19913121;20628086;19759913;16341674;21400569;22768673;19322201;21628590;20309963;21139048;21890473;21906983;22586326;22505724;22797925 84823 J9JID7;Q03252 ABBA01002736;ABBA01002737;AC005624;AC011522;AK129641;AL560944;AMYH01009283;BC006513;BC006551;BC009267;BE791439;BE791473;BM757169;BT007441;CH471139;M94362;M94363;NG_008355;NM_032737 AAA80979;AAB00873;AAC34573;AAH06551;AAP36109;ACE87063;ACE87744;EAW69378;EAW69379;NP_116126;Q03252 Hs.744015 1672866;1680192;1793808 D19S839;PMC291826P2;RH80287 FLJ26130;LAMB2;LMN2;MGC2721 OTTHUMP00000198023;lamin-B2 APPROVED protein-coding ENSG00000176619 6638 01037 150341;608709 REVIEWED 1313837 LMO4 LIM domain only 4 This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008] 1 1 p22.3 87566739 87583851 + 87794151 87814606 + 6480464;6484113 10209267;19111533;19099607;18950845;18615156;18231110;17001033;15897450;15894532;15677447;15489334;15231748;12878195;12877980;12477932;12153047;11751867;10556429;9736723;12925972;12727888;21738478;19020036;19648968;19733838;20526802;20936779;16288053;21362019;21271214;23353824;21900206;23407556;23407937;22906635;23291272 8543 P61968 ABBA01045606;ABBA01045607;AC092392;AI962216;AK292578;AMYH01000773;AMYH01000774;AW162477;BC003600;BC017673;BC065818;BU580860;BU619915;CH471097;NM_006769;U24576 AAB51073;AAH03600;AAH17673;AAH65818;ABM82373;ABM85552;BAF85267;EAW73168;EAW73169;NP_006760;P61968 Hs.436792 1646331;1654820;1663715;1797828;2130019;2157908;2165002 Cda02b10;D1S2350;LMO4_2326;SHGC-36220;SHGC-75101;SHGC-75104;SHGC-75105 LIM domain only protein 4;LIM domain transcription factor LMO4;LMO-4;OTTHUMP00000011905;OTTHUMP00000011906;breast tumor autoantigen APPROVED protein-coding 6644 09122 603129 REVIEWED 1346701 LMO3 LIM domain only 3 (rhombotin-like 2) The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 p12.3 16592574 16652291 - 16701306 16761148 - 6480464 16344560;16713569;16189514;15930276;15489334;14702039;12477932;11489251;1507224;19995558;23322301;21573214;22011669 55885 C9JE61;F5GYZ6;F5GZR3;F5H2N9;F5H3S4;F5H4K9;F5H4T0;F5H655;F6TDU8;Q05D86;Q8TAP4;Q9NYC6 AB044745;AB044746;ABBA01067907;AC007529;AC007552;AF258348;AK095595;AK294474;AK294909;AK308594;AK308826;AK308896;AK312418;AK316021;AL050152;AL050188;AMYH01004305;AMYH01004306;BC017777;BC026311;BC050085;BG714670;BI553855;BQ029059;CH471094;DA780743;DC318689;DC324870;M64358;NG_029785;NM_001001395;NM_001243609;NM_001243610;NM_001243611;NM_001243612;NM_001243613;NM_018640;NR_045012;NR_045013;NR_045014 AAF71368;AAH17777;AAH26311;AAH50085;ABZ92403;BAC04582;BAD93349;BAD93350;BAG35328;BAG57701;BAG57996;BAH14392;EAW96370;EAW96371;EAW96372;EAW96373;EAW96374;EAW96375;EAW96376;EAW96377;NP_001001395;NP_001230538;NP_001230539;NP_001230540;NP_001230541;NP_001230542;NP_061110;Q8TAP4 Hs.504908 1651929;1684082;1726029;1731865;1742885;1772030;1772032;1778603;2177948;2179151 A002A33;BCD1517;D12S383E;G19860;G62377;GDB:214810;RH1605;RH66254;RH91802;SHGC-30138 DAT1;MGC26081;RBTN3;RBTNL2;RHOM3;Rhom-3 LIM domain only protein 3;LMO-3;OTTHUMP00000239576;OTTHUMP00000239577;OTTHUMP00000239578;OTTHUMP00000239582;OTTHUMP00000239583;OTTHUMP00000239584;OTTHUMP00000239586;OTTHUMP00000239589;OTTHUMP00000239592;OTTHUMP00000239593;OTTHUMP00000239594;OTTHUMP00000239596;neuronal specific transcription factor DAT1;neuronal-specific transcription factor DAT1;rhombotin-3;rhombotin-like 2 APPROVED protein-coding ENSG00000048540 6643 11832 180386 REVIEWED 1316093 LMO2 LIM domain only 2 (rhombotin-like 1) LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008] 11 11 p13 33836698 33870412 - 33880122 33913836 - 1580863;6480464 22615488;20686118;1923511;19487290;19336552;19141387;19047678;18676680;18187418;18079736;17972953;17964543;17910069;17878155;17360939;17268520;17038524;16873670;16793212;16314316;16189514;15761153;15541480;15489334;15146197;12878195;12727888;12609830;12477932;12067721;11882901;11751867;11069036;10866689;10431247;9819382;9736723;9452425;9391090;9214632;9209374;9129143;9001422;8889548;8078932;7957052;7731680;7568177;7475267;2052354;2034676;16407974;12239153;17437998;18763096;18844071;19170196;19278969;19336746;19568416;19573080;19625176;19635185;19671288;19692168;19773279;20346173;20660332;20557670;20676125;20955387;21059912;20519628;20697248;20731704;21072044;21076045;17973255;21502424;21045296;21722313;21375434;21459790;19375645;21670469;22517897;21890473;19734545;22066713;22394247 4005 P25791 ABBA01060880;ABBA01060881;AC113192;AC132216;AF257211;AMYH01003486;BC034041;BC035607;BC042426;BC073973;BM690599;BM699014;CH471064;CN355348;NM_001142315;NM_001142316;NM_005574;X61118 AAF98804;AAH34041;AAH35607;AAH42426;AAH73973;ABM83259;ABM86464;CAA43430;EAW68181;EAW68182;NP_001135787;NP_001135788;NP_005565;P25791 Hs.34560 1650554;1737237;1742537;1742553;1774101;1796256;1849609;1857554;2118946;2125870;2136345;2161266;2165159;2182500;5019799 A006O42;A009V44;D11S3104;G17573;G32895;GDB:197859;GDB:197868;LMO2;LMO2_187;RH46496;RH70425;SGC31579;STS-H37799;STS-H90759;WI-22117 RBTN2;RBTNL1;RHOM2;TTG2 LIM domain only protein 2;LMO-2;OTTHUMP00000211640;OTTHUMP00000211641;T-cell translocation gene 2;T-cell translocation protein 2;cysteine-rich protein TTG-2;rhombotin 2;rhombotin-2;rhombotin-like 1 APPROVED protein-coding ENSG00000135363 6642 01586 180385 REVIEWED 1345388 LMPDZ1 LIM and PDZ domains 1 634540 9334352 337938 13344 732790 LMNA lamin A/C The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012] 1 1 q22 154351085 154376502 + 156052369 156109880 + 1580514;1580515;1580516;1580530;1624984;1624985;1358482;737720;2306091;2306123;2306122;2306094;2302364;2306095;2306092;2306121;6480464;6907045;7240710 16461887;12628721;12196663;15205220;17327461;17327437;14607793;12748643;18926329;12524233;10587585;17446932;16117820;18182166;15205219 21462476;22065502;22266370;22301279;22431096;18654987;20301462;20301468;20301486;20301582;20301609;20301717;20627339;21346760;21599722;21818408;22071332;22700598;15355978;20886652;18923140;18848371;18843043;18830724;18816602;18805829;18795223;18767923;18714801;18714339;18667561;18646565;18643848;18612243;18611980;18606848;18604166;18585512;18564364;18551513;18549403;18538321;18524819;18502446;18497734;18478590;18442998;15635413;15622532;15551023;15527767;15489334;15476822;15372542;15342704;15317753;15302935;15298354;15284226;15265697;15219508;15184648;15080529;15032975;15026149;14985400;14759373;14702039;14675861;14644157;14627682;14597414;13129702;12927431;12920062;12844477;12788894;12783988;12768443;12729796;12718522;12714972;12702809;12673789;12629077;12534602;12477932;12475961;12467734;12429849;12409453;12154369;12145775;12138353;12112001;12075506;12057196;12032588;12018485;12015247;11973618;11953316;11929849;11901143;11897440;11836312;11833462;11799477;11792821;11792811;11792810;11792809;11790298;11709282;11691994;11576443;11532159;11503164;11440372;11344241;11243729;11231979;11173535;10999791;10984438;10960149;10814726;10806082;10739764;10739751;10727209;10673356;10662742;10655060;10580070;10514485;10508479;10080180;9563518;9436978;9367621;9274531;9243284;9106535;9030603;8978814;8889548;8838815;8621584;8511676;8477740;8344919;8324822;8278403;8058329;7951328;7925482;3462705;3453101;3403563;2544227;2406262;2344612;2209722;1667585;1602151;1599464;12755701;12670476;12163176;7628545;11801724;18029348;18809582;19490114;19442658;19427440;19424285;19401371;19384091;19351612;19328042;19318026;19283854;19270485;19247430;19204888;19201734;19144202;19141474;19126678;19124654;19084400;19022376;19015316;18982914;18959190;18950579;18946024;18442054;18396274;18364375;18348272;18339564;18337098;18311132;18308323;18093584;18077842;18041775;18035086;18031308;17994215;17987279;17935239;17893350;17881656;17870066;17848622;17760566;17718387;17711925;17701980;17612587;17605093;17550303;17536044;17469202;17459035;17454124;17428859;17360355;17360326;17352743;17334235;17327460;17301031;17291448;17227891;17150192;17136397;17117676;17097067;17090536;17081983;17069459;16981056;16964243;16916647;16825283;16823856;16779558;16772334;16738054;16697197;16645051;16565220;16518869;16481476;16410549;16371512;16357800;16344560;16344005;16289535;16288872;16262891;16248985;16246140;16239243;16236267;16218190;16179429;16169070;16129833;16126733;16084085;16083285;16061563;15998779;15982412;15961312;15919811;15798706;15793835;15748902;15668447;15639119;15636422;17620012;21085127;20615561;19913121;19926845;20485444;20498703;20526372;20628086;20041886;20625965;21439080;18836436;19734887;19759913;20605919;20045150;20562859;10381623;15671068;16266469;16452503;18497856;18691775;19172989;19220582;19323649;19446900;19524666;19574635;19578796;19589617;19638735;19644448;19645629;19672032;19680556;19768759;19775189;19841875;19855837;19859838;19875404;19875478;19882644;19933576;19938095;19948975;19958786;20004208;20054742;20079404;20092787;20127487;20130076;20147387;20160190;20307303;20458013;20474083;20501691;20497714;20819672;20884875;16159877;20301300;20732854;20974128;21400569;17573780;20581439;21462202;20848652;11331782;23048029;23383273;22863883;23197810;22340368;22893709;21151901;21179469;21346069;21327842;21350821;21941106;17314511;17342744;20618440;21670151;21800051;21486941;20000738;21621406;21655223;21689390;22412018;23319047;23328570;23455922;21670498;21406687;21327074;21982404;19596686;20309963;21875900;21903150;21915271;21987572;22029807;22178446;15161933;19850743;21289091;21535365;21846512;21311568;21980471;19471022;22281253;21632249;21724554;17306257;22057372;22199124;22231515;22413764;22586326;21139048;21596650;21693764;21890473;21906983;21945321;21963094;21993218;23430973;22326558;16009940;17683050;21098080;21627864;22533413;22560296;23049808;21319273;22224630;22806367;22555846;19727227;22939629;23062543;22079058;16212417;19738201;19805454;20155465;21150319;21498514;21988832;22623428;22751105;23000965;23064282;19725029;23329710;23243001;23702046;22773734;20709679;22186027;21853274;22505724;22549407;22840390;23564641 4000 D6RAQ3;D6RB20;H0YAB0;Q5TCI8;Q6UYC3;Q96JA2 AA558657;ABBA01016670;ABBA01016671;AF381029;AI872233;AK026584;AK056143;AK056191;AK057997;AK097801;AK098128;AK122732;AK130179;AK294217;AK295390;AK309539;AL135927;AL355388;AL356734;AMYH01001435;AY357727;AY528714;AY847595;AY847596;AY847597;BC000511;BC003162;BC014507;BC018863;BC033088;BG822820;BU732343;CB854404;CH471121;DA421696;DC400775;L12399;M13451;M13452;NG_008692;NM_001257374;NM_005572;NM_170707;NM_170708;NR_047544;NR_047545;X03444;X03445 AAA36160;AAA36164;AAH00511;AAH03162;AAH14507;AAH33088;AAK59326;AAR29466;AAW32538;AAW32539;AAW32540;ABB04050;ACE86595;ACE86831;ACE87276;ACE87517;BAG57524;BAG58344;CAA27173;CAA27174;EAW52996;EAW52997;EAW52998;EAW52999;EAW53000;NP_001244303;NP_005563;NP_733821;NP_733822;P02545 Hs.594444 1768328;1792912;1792914;1792916;1792918;1792920;1792922;1796254;2155758;2162853 D20S1027;G15913;LMNA_902;PMC169171P1;PMC169171P2;PMC169171P3;PMC169171P4;PMC169171P5;PMC169171P6;RH69068 CDCD1;CDDC;CMD1A;CMT2B1;EMD2;FPL;FPLD;FPLD2;HGPS;IDC;LDP1;LFP;LGMD1B;LMN1;LMNC;LMNL1;PRO1 70 kDa lamin;OTTHUMP00000015843;OTTHUMP00000015845;OTTHUMP00000015846;OTTHUMP00000015847;OTTHUMP00000015848;OTTHUMP00000217835;lamin;lamin A/C-like 1;lamin a;lamin-A/C;prelamin-A/C;renal carcinoma antigen NY-REN-32 2289451;2315765;2315816 BW299_H;GLUCO149_H;GLUCO177_H APPROVED protein-coding ENSG00000160789 6636 01035 115200;150330;151660;159001;176670;181350;212112;248370;275210;605588;610140;613205 REVIEWED 1316308 LMOD1 leiomodin 1 (smooth muscle) The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008] 1 1 1 q32 174989409 175039451 - 200132207 200182339 - 201865584 201915716 - 1580863;6480464 8811043;2026759;18676680;16633140;16344560;12477932;11350761;11318603;10520227;18029348;19913121;20628086;14627618;19170196;19625176;19692168;22157009;22747683 25802 P29536 ABBA01027522;ABBA01027523;AC099676;AK126474;AK295824;AK304852;AL513217;AMYH01001644;BC001755;BC080187;CH471067;DB228115;NM_012134;X54162 AAH01755;AAH80187;BAG54332;BAG58641;BAG65591;CAA38101;EAW91380;EAW91381;NP_036266;P29536 Hs.519075 1337218;1664976;1774445;2109473;2160969;2174359 D1S1171;D1S3353;LMOD1_9413;RH48177;RH70834;SHGC-30325 1D;64kD;D1;FLJ55689;SM-LMOD 64 kDa autoantigen 1D;64 kDa autoantigen 1D3;64 kDa autoantigen D1;OTTHUMP00000033948;leimodin 1 (smooth muscle);leiomodin, muscle form;leiomodin-1;smooth muscle leiomodin;thyroid and eye muscle autoantigen D1 (64kD);thyroid-associated ophthalmopathy autoantigen APPROVED protein-coding ENSG00000163431 6647 04093 602715 REVIEWED 1351855 LMO7 LIM domain 7 This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009] 13 13 13 q22.2 57092445 57331882 + 75092571 75332003 + 76194570 76434006 + 1580863;6480464 17620012;10531035;9826547;17081983;17067998;16964243;16344560;16192285;16083285;15324660;15302935;14702039;12477932;12168954;11935316;10737800;10048485;15778465;15782160;16169070;20379614;21670154;22939629;21525034;15161933;15840729;21139048;21980299;22266860 4008 E9PJ10;E9PK58;E9PLH4;E9PLU6;E9PMJ6;E9PMP7;E9PMS6;E9PMT2;E9PRE3;E9PRJ0;F8WD26;H0Y424;H0YDG6;H0YDQ3;H0YE95;J3KP06;Q8WWI1 AA777749;AB020665;ABBA01021646;ABBA01021647;ABBA01021648;ABBA01021649;ABBA01021650;AF092557;AF144237;AF174600;AF330045;AK055465;AK074265;AK092052;AK304051;AL137121;AL137244;AL137782;AL359392;AMYH01005214;AMYH01005215;AW805522;BC036428;CH471093;DB064574;DB227898;FJ711162;NM_005358;NM_015842;U90654 AAB86592;AAC96299;AAC96300;AAD33924;AAF04521;AAI48409;AAL37480;ACV60543;BAA74881;BAH14099;EAW80549;EAW80550;EAW80551;EAW80552;EAW80553;EAW80554;EAW80555;NP_005349;NP_056667;Q8WWI1 Hs.207631 1648317;1665838;1668740;1688626;1696274;1699540;1703462;1714061;1736358;1738443;1779480;1782806;1797830;1851079;2111626;2111672;2122449;2133492;2133494;2157654;2159633;2189521;2189801;2189817;2189845;2189891;5024543;5109745 173d1FWD;214f7FWD;283a3REV;84b6REV;A001Y22;D13S1096E;D13S1562;D13S1590;D13S822E;D13S823E;D13S836E;D13S867E;D1S3690;G19262;G19783;LMO7_2245;RH103368;RH119461;RH143414;RH98953;SHGC-103001;SHGC-153460;SHGC-82570;SHGC-83668;STS-AA007139;STS-H60823;WI-16413;WI-19625 FBX20;FBXO20;KIAA0858;LOMP F-box only protein 20;F-box protein Fbx20;LIM domain only 7;LIM domain only 7 protein;LIM domain only protein 7;LMO-7;OTTHUMP00000018512;OTTHUMP00000018514;OTTHUMP00000018515;OTTHUMP00000232292;OTTHUMP00000232449;OTTHUMP00000232450;zinc-finger domain-containing protein APPROVED protein-coding ENSG00000136153 6646 05078 604362 REVIEWED 1603238 LMOD2 leiomodin 2 (cardiac) 7 7 7 q31.32 118099608 118107893 + 123083097 123091383 + 123295861 123304147 + 6480464 12690205;12477932;11318603;9847074;18403713;16633140 442721 C9J8F4;Q6P5Q4 AACC02000001;ABBA01057729;AC006333;AK299389;AK299434;AK300698;AMYH01017905;BC017911;BC062765;CH236947;DC385641;NM_207163 AAH17911;AAH62765;BAG61374;BAG61412;BAG62379;EAL24335;NP_997046;Q6P5Q4 Hs.592260 2168418 D7S2043E C-LMOD OTTHUMP00000211996;cardiac leiomodin;leiomodin-2 protein-coding ENSG00000170807 6648 608006 VALIDATED 1603025 LMOD3 leiomodin 3 (fetal) 3 3 3 p14.1 69084149 69099857 - 69238730 69254407 - 69156039 69171746 - 6480464 16633140;16381901;15489336;15489334;14702039;12477932;11256614;11230166;11076863;22881374 56203 Q0VAK6 ABBA01030898;ABBA01030899;AC092060;AK057852;AK096900;AK300096;AL832033;AL832709;AMYH01013260;BC017925;BC039202;BC121019;CH471055;NM_198271 AAH39202;AAI21020;BAB71596;BAG61897;CAI46110;CAL38080;EAW65471;EAW65472;NP_938012;Q0VAK6 Hs.350621 1688520;1715169;1735122;1735128;1735172;1856635;2142954;2147403;5015961;5020740;5022450;5022578;5024413;5037552 Bdy39e03;D10S275;D15S1477;D1S1423;D3S2766E;D3S2792E;D3S2794E;D3S2820E;D8S2279;L17809;L17877;RH119835;RH92403;SHGC-13209 DKFZp313F0135 OTTHUMP00000213436;OTTHUMP00000213437;OTTHUMP00000213438;leiomodin, fetal form;leiomodin-3 protein-coding ENSG00000163380 6649 13993 VALIDATED 1345352 LMX1B LIM homeobox transcription factor 1, beta This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 9 9 q33.3 128416619 128498551 + 129376722 129463311 + 1599750;1599751;1580863;6480464;7240710 9590287;15498463 12792813;10767331;9618165;9837817;19189040;18996370;18952915;18634531;18595794;18562181;18414507;17905480;17728669;17710881;17515884;15928687;15638822;12819019;12646768;12477932;11978876;11956245;11956244;11668639;10854116;10571942;9590288;9441763;9199284;20570600;20583170;20634891;20531206;20211142;20643727;21246047;17207965;19562271;19721866;20935630;20301311;21184584;21832049;21850167;23046462;21901133 4010 B7ZLH2;O60663;Q6ISE0 ABBA01043813;ABBA01043814;AF057135;AF059575;AL161731;AL161908;AMYH01021719;BC069588;BC069601;BC112120;BC113491;BC143801;CH471090;EL952935;NG_017039;NM_001174146;NM_001174147;NM_002316;U77457 AAC13544;AAC27294;AAC39738;AAH69588;AAH69601;AAI12121;AAI13492;AAI43802;ADQ31979;ADR82982;EAW87641;EAW87642;NP_001167617;NP_001167618;NP_002307;O60663 Hs.129133 1729875;1758043;5024756 D9S112;RH80030;SHGC-147195 LMX1.2;MGC138325;MGC142051;NPS1 LIM homeobox transcription factor 1-beta;LIM/homeobox protein 1.2;LIM/homeobox protein LMX1B;LMX-1.2;OTTHUMP00000022153;OTTHUMP00000022154 APPROVED protein-coding ENSG00000136944 6654 03986 161200;602575 REVIEWED 1315801 LMTK2 lemur tyrosine kinase 2 The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009] 7 7 q21.3 97574133 97673537 + 97736197 97838945 + 1580863;6480464 12393858;19423541;19366831;19318432;18794092;18429820;18264097;18029400;17081983;16887929;16428298;15005709;12853948;12832520;12690205;10470851;20564319;12477932;14702039;19549807;19767753;19855435;19866473;19900942;19902474;20450899;20460480;20569440;20878950;21071540;22220831;21906983;23080069;23114966 22853 Q8IWU2 AACC02000085;AB029002;ABBA01045735;ABBA01045736;ABBA01045737;AC073101;AC091654;AK128506;AMYH01017710;AW183515;AY130988;BC080576;BC131504;BC146773;BE049530;BF001752;BM172505;CH236956;CH471091;CS542494;NG_013375;NM_014916 AAI31505;AAI67828;AAN08717;AAS07515;BAA83031;CAM91184;EAL23894;EAW76719;EAW76720;EAW76721;NP_055731;Q8IWU2 Hs.444179 1336691;1658245;1700626;1723541;1766269;2127531;2175806;5014063 A004H27;D12S335;D15S1390;RH103935;RH118588;RH46467;SGC33213;SHGC-149626 AATYK2;BREK;FLJ46659;KIAA1079;KPI-2;KPI2;LMR2;cprk CDK5/p35-regulated kinase;OTTHUMP00000205379;apoptosis-associated tyrosine kinase 2;brain-enriched kinase;cyclin-dependent kinase 5/p35-regulated kinase;hBREK;kinase phosphatase inhibitor 2;kinase/phosphatase/inhibitor 2;serine/threonine-protein kinase KPI-2;serine/threonine-protein kinase LMTK2 APPROVED protein-coding ENSG00000164715 17880 13994 610989 REVIEWED 6481404 LNX1-AS1 LNX1 antisense RNA 1 4 54366244 54389441 + 100873939 AA405946;ABBA01003392;AC058822;AMYH01014183;BX103714;NR_046622 Hs.662372 APPROVED miscrna ENSG00000250930 40345 VALIDATED 6481420 LNX1-AS2 LNX1 antisense RNA 2 4 54459123 54471549 + 100873955 ABBA01003392;ABBA01003393;AC095040;AI298794;AMYH01014183;CA941543;CB046063;NR_046827 Hs.351074 APPROVED miscrna 41450 VALIDATED 2291790 LNP1 leukemia NUP98 fusion partner 1 3 3 3 q12.2 98510896 98566085 + 101602727 101657860 + 100120037 100175170 + 6480464 16467868;14702039;12477932 348801 A1A4G5;C9J587;F8WF60 ABBA01061788;ABBA01061789;AC093003;AC128693;AC139015;AK056320;AMYH01013357;AMYH01013358;AW295433;BC040562;BC067886;BC126362;BC130480;BC144031;CH471052;NM_001085451 A1A4G5;AAI26363;AAI30481;AAI44032;ADR82843;BAG51675;EAW79821;NP_001078920 Hs.591294 1338683;1683894;2112604;2151076;2163033 D3S1544;D3S4364;RH94012;SHGC-77150;STS-Z41110 OTTHUMP00000214040;OTTHUMP00000214042;leukemia NUP98 fusion partner 1 protein-coding ENSG00000206535 28014 VALIDATED 1351306 LMTK3 lemur tyrosine kinase 3 19 19 19 q13.33 45853763 45881680 - 53680340 53708258 - 48988528 49016446 - 1580863;6480464 15489334;12477932;11572484;16169070;21671015;21602804;19389623 114783 Q96Q04 AB067470;ABBA01032988;ABBA01032989;ABBA01032990;AC008403;AMYH01009902;AMYH01009903;BC036690;NM_001080434 AAH36690;BAB67776;NP_001073903;Q96Q04 Hs.207426 2137325 RH66744 KIAA1883;LMR3;TYKLM3 serine/threonine-protein kinase LMTK3 protein-coding ENSG00000142235 19295 PROVISIONAL 2303665 LOC100132055 uncharacterized LOC100132055 16 9 88695299 88722634 + 141139782 141149322 + 15616553;14702039 100132055 P0CG43 AL954642;XR_159005 Hs.646087 5016478 GDB:434012 DKFZp434B2016;FLJ35239 Putative protein FAM157C;family with sequence similarity 157, member C;hypothetical protein LOC100132055 APPROVED miscrna MODEL 1343699 LOC100499484-C9ORF174 LOC100499484-C9orf174 readthrough This locus represents a set of read-through transcripts spanning an upstream pseudogene (GeneID:100499484) extending into a downstream protein-coding locus (GeneID:100499483). All of the read-through transcripts are candidates for nonsense-mediated decay (NMD), so they are not thought to express a protein. [provided by RefSeq, Aug 2010] 9 9 9 q22.33 70515062 70653930 + 99040600 99179390 + 100000708 100139577 + 737633 12477932 18978678;14702039;10819331 57653 ABBA01042933;ABBA01042934;ABBA01042935;ABBA01042936;AL590705;AMYH01021552;AMYH01021553;NR_036527;NR_036528;NR_036529 Hs.435629 1656944;1696086;1726665;1780008;2177163;2185722;5112283 G62568;RH103003;SHGC-14478;SHGC-154259;SHGC-32460;SHGC-54269;SHGC-79118 BDAG1;DKFZp434I2420;DKFZp686G1725;KIAA1529;MGC131724;RP11-23J9.1 Behcet's Disease Associated Gene 1;OTTHUMP00000021741;hypothetical protein LOC57653 APPROVED miscrna 11152 VALIDATED 732137 LNPEP leucyl/cystinyl aminopeptidase This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 q15 96297102 96390871 + 96271346 96365115 + 1581849;1581864;1580863;2302393;2306436;2314919;2314923;2311543;1582109;2314920;2314921;2311542;2314922;2314924;6480464;6484113;6907045 15687842;12591177;17717074;16967782;17692401;10508127;1789335;16619500;15907336;15491750;11701721;15218296;7446622 15691326;9177475;8550619;19498108;18996364;18502721;18398343;17999179;17391061;17373876;17059388;16136012;16113565;16054015;15894523;15187412;14702039;14527672;12871575;12700100;12677009;12569180;12477932;12137746;12080061;11857741;11802774;11707427;11517297;11516173;11389728;10988299;10985965;10759854;10448104;9733056;9013800;5953194;3898693;1731608;21330387;20592285;20304486;15231748;18713752;19071192;19578876;20150869;21348480;21314638;22863883;23128233;22505724 4012 Q9UIQ6 AB208883;ABBA01069224;ABBA01069225;ABBA01069226;AC008850;AC008865;AJ131023;AJ131025;AK096804;AK314226;AMYH01015491;BC028692;BC111718;BC113117;BG622952;BQ923659;CH471084;D50810;NM_005575;NM_175920;U62768;U62769 AAB66672;AAB66673;AAI60010;BAA09436;BAD92120;BAG36898;CAB61646;CAB94753;EAW96084;NP_005566;NP_787116;Q9UIQ6 Hs.527199;Hs.656905 1657592;1671806;1682509;1690412;1697778;1707802;1719657;1722117;1727751;1735504;1847713;1849327;1854791;2163820;5493141 D5S1627E;D5S1849;D5S2387;G60101;G63141;RH102413;RH123520;RH93950;RH98440;SGC38194;SHGC-36280;SHGC-82127;UniSTS:484431;WI-11346;WI-14824 CAP;IRAP;P-LAP;PLAP AT (4) receptor;OTTHUMP00000158907;OTTHUMP00000196800;aminopeptidase vp165;angiotensin IV receptor;cystinyl aminopeptidase;insulin-regulated aminopeptidase;insulin-regulated membrane aminopeptidase;insulin-responsive aminopeptidase;leucyl-cystinyl aminopeptidase;otase;oxytocinase;placental leucine aminopeptidase;vasopressinase APPROVED protein-coding ENSG00000113441 6656 01041;08255 151300 REVIEWED 1312426 LMX1A LIM homeobox transcription factor 1, alpha This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 1 1 q24.1 163437729 163591641 - 165171104 165325952 - 6480464 19189040;19064610;16710414;15188402;15183721;14702039;12477932;12062816;9452425;9441763;9315627;7698771;1358758;9199284;18832589;19536175;20379614;8889548;21177773;20570600;21159062;21435346;22318606;21624811;22882568 4009 Q6NZ39;Q8TE12 ABBA01047282;ABBA01047283;AK122800;AK127724;AL160058;AL390730;AL590112;AMYH01001469;AY078391;AY078392;AY078393;AY078394;AY078395;AY078396;AY078397;AY078398;BC066353;BC119743;BC119744;BM678780;CH471067;CS406131;NM_001174069;NM_177398 AAH66353;AAI19744;AAI19745;AAI60062;AAL82892;AAL82893;ADZ15611;BAG54558;CAL40521;EAW90743;EAW90744;NP_001167540;NP_796372;Q8TE12 Hs.667312 1340776;1660770;1754749;1763257;1781696;1852869;2108813;2182243;7187477 AL009664;AL009921;D1S2453;D1S426;LMX1A_7814;SHGC-133109;SHGC-146985;SHGC-155128 LMX-1;LMX1;LMX1.1;MGC87616 LIM homeobox transcription factor 1-alpha;LIM/homeobox protein 1.1;OTTHUMP00000032530;OTTHUMP00000032531;OTTHUMP00000032532 1643243;2314796;2314802;2315058;2316879 BW132_H;GLUCO118_H;GLUCO121_H;GLUCO133_H;GLUCO304_H APPROVED protein-coding ENSG00000162761 6653 02623 600298 VALIDATED 2298829 LOC149134 uncharacterized LOC149134 1 1 1 q44 220244830 220246699 + 245020440 245021411 + 246952919 246954788 + 14702039;12477932 149134 Q6ZUZ4 ABBA01031768;AK022825;AK125177;AL591848;AMYH01001905;BC101243;BC101244;BC101245;BC101246;CH471148;NR_015422 BAC86072;EAW77164 Hs.720494 2184075;5493557 SHGC-76640;UniSTS:487204 MGC120210;MGC120211;MGC120212;MGC120213 APPROVED miscrna 14084 VALIDATED 1605866 LOC149950 uncharacterized LOC149950 20 20 20 q11.21 27931271 27952683 + 30653106 30660232 + 31175281 31196695 + 12477932 149950 Q5W150 ABBA01019260;AL133343;AMYH01011847;BC111383;BC130462;BC130464;NR_034152 AAI11384;AAI30463;AAI30465;Q5W150 Hs.516980 1342234;1644363;1693368;1759451;2154982 AL034493;D20S739;D20S843;G18079;SHGC-150945 MGC163334;MGC163336 APPROVED miscrna ENSG00000204393 17304 VALIDATED 1606475 LOC113386 similar to envelope protein 19 q13.43 63508555 63518827 + 8889548;14702039;12477932 113386 Q6ZRD3;Q96A10 AC010642;AC020915;AK054868;AK126673;AK128311;BC010118;BC011670;BM680245;CH471135;NM_138781 AAH11670;BAC86638;BAC87378;EAW72571;NP_620136;Q6ZRD3;Q96A10 Hs.435404 FLJ44718;FLJ46452 protein-coding 14001 2303661 LOC150622 uncharacterized LOC150622 2 2 2 p25.2 5986934 6034463 + 6027379 6030779 + 6072819 6120350 + 16344560;14702039;12477932 150622 Q96NM1 ABBA01023889;AC073479;AC079770;AK055156;AK091363;AK124750;AL713643;AMYH01010084;BC093858;BX648932;CH471053;DA139711;NR_026832 AAX93109;BAB70863;CAH10597;EAX01046 Hs.560891 1700376;1734976;1734990;1857854;2121398;2131938;2149125;2181722;5493139 A004Z09;D2S1721E;D2S1728E;RH103808;RH69963;SHGC-36413;UniSTS:484416;WI-14678;WI-22274 DKFZp761K2322;MGC120893 APPROVED miscrna 08087 VALIDATED 1317771 LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 q12 54020225 54119124 - 54326437 54457753 - 1580863;6480464;6484113 16002321;16189514;16713569;18029348;19132087;18940473;17936276;17504929;16832352;16344560;16122940;15489334;15367597;15010864;14702039;12975309;12477932;12468544;11922143;11782429;11521506;9535908;22889411;20379614;14990566;19701800;21832049;21104141;22066909;20864041;22045731;22087225;16324299;21988832;22939624 84708 D6RAH9;D6RB76;D6RE08;Q8TBB1 ABBA01003391;ABBA01003392;AC058822;AC095040;AF237782;AK056823;AK294611;AMYH01014183;AY358326;BC022983;BC034737;BC094772;CH471057;DA154083;DA625539;DA854815;DA874715;DB159390;NM_001126328;NM_032622 AAH22983;AAH34737;AAK15039;AAQ88692;AAY41000;ABM84910;BAB71291;BAG57796;EAX05450;EAX05451;NP_001119800;NP_116011;Q8TBB1 Hs.518760 1647447;1665184;1705294;1718559;1735412;1739979;1775816;1848995;1848997;1853696;2122130;2177814 A001V35;A006X48;D4S2583E;D4S2783;D4S2897;G19694;RH122481;SHGC-59803;SHGC-67415;SHGC-67779;SHGC-78604;STS-R85294 LNX;MPDZ;PDZRN2 E3 ubiquitin-protein ligase LNX;OTTHUMP00000128293;OTTHUMP00000128294;PDZ domain-containing ring finger protein 2;ligand of numb-protein x;multi-PDZ-domain-containing protein, E3 ubiquitin-protein ligase LNX;numb-binding protein 1 APPROVED protein-coding ENSG00000072201 6657 17287 609732 REVIEWED 1317872 LNX2 ligand of numb-protein X 2 13 13 13 q12.2 9188676 9263351 - 27018050 27092720 - 28120050 28194720 - 1580863;6480464 14702039;16344560;15489334;15057823;12477932;11922143;22087225;22889411;21471979;19549727;11782429;23088713;23105109;23319804;22045731;21139048;22066909;23000965;22493164 222484 Q8N448 ABBA01035744;AK022995;AK095319;AK313394;AL136439;AL138699;AMYH01004992;BC036755;CH471075;DB220129;DN990012;NM_153371 AAH36755;BAG36192;EAX08413;EAX08414;NP_699202;Q8N448 Hs.132359 1681332;1737317;1737339;1774825;2185961;5022651;5037552 D11S2921;D13S924;D13S936;D8S2279;RH91737;SHGC-24292;STS-AA018927 FLJ12933;FLJ23932;FLJ38000;MGC46315;PDZRN1 OTTHUMP00000018170;PDZ domain containing ring finger 1;PDZ domain-containing RING finger protein 1;ligand of Numb protein X 2;numb-binding protein 2 protein-coding ENSG00000139517 20421 10042 609733 VALIDATED 2304400 LOC151009 uncharacterized LOC151009 2 2 2 q13 104743689 104745411 - 110569034 110569923 - 111132686 111142113 - 16344560;15342556;14702039;12477932 151009 Q68DL6 ABBA01142032;AC112229;AI699847;AK095678;AMYH01010915;BC101449;BC101450;BC101451;BC113052;BP341570;CH878615;CR749351;DB205082;NR_027244 BAC04604;CAH18204;EAW50645 Hs.643369 1660017;2122649 STS-R37430;WI-21119 DKFZp686K04236;FLJ38359 APPROVED miscrna 08239 VALIDATED 2291780 LOC152217 uncharacterized LOC152217 3 3 3 q29 195256110 195257502 + 198153081 198155305 + 196669494 196670884 + 14702039;12477932;21319273;21139048 152217 Q69YL0 ABBA01033761;AC011322;AK123020;AL832915;AMYH01013799;BC000257;BC007882;BC062368;CH471191;NR_024388 CAH10618;EAW53619;Q69YL0 Hs.118820 DKFZp762I1415;FLJ41024;MGC71256 APPROVED miscrna 14094 VALIDATED 1605861 LOC152586 glycosyltransferase 54 domain-containing protein 4 4 4 q31.1 138694536 138749502 - 141583979 141638951 - 141364529 141419501 - 16773575;15815621;12477932 152586 A6NG13;D6RCD3 ABBA01069981;AC093671;AMYH01014571;AMYH01014572;BC041818;BI826002;BI828214;DB444046;DB462368;NM_001277353;XM_003959966;XM_003960339;XM_003960924 A6NG13;NP_001264282;XP_003960015;XP_003960388;XP_003960973 Hs.189067 MGC43429 OTTHUMP00000222471;glycosyltransferase 54 domain-containing protein APPROVED protein-coding 18736 610310 VALIDATED 4108202 LOC154872 uncharacterized protein LOC154872 7 7 7 q31.33 119222597 119236115 - 124204582 124218108 - 124417346 124430864 - 12477932 154872 A4D0Y5 AACC02000001;ABBA01057711;AC004925;AMYH01017908;BC130600;BC130604;CH236947;CH471070;NM_001024603 A4D0Y5;EAL24324;EAW83614;NP_001019774 Hs.444163 1852498 D7S1757 hypothetical protein LOC154872;uncharacterized protein LOC154872 APPROVED protein-coding 18562 PREDICTED 1344222 LOC2748 glutamate dehydrogenase 1 pseudogene 10 10 q11.2 46668350 46668747 + 47248344 47248741 + 8486350;8244384;8111403;2364112 2748 AL391137;NG_001128;X73122 APPROVED pseudo INFERRED 2292117 LOC153684 uncharacterized LOC153684 5 5 5 p12 42931353 42934488 + 43077417 43081488 + 43042236 43045370 + 14702039;12477932 153684 Q6ZVW3 ABBA01024244;AC025171;AK002146;AK123995;AMYH01015053;AMYH01015054;BC101382;BC101383;BC101384;BC101385;NR_015447 BAC85747 Hs.259625 MGC120598 APPROVED miscrna ENSG00000215068 14101 PREDICTED 1606139 LOC155060 AI894139 pseudogene 7 7 7 q36.1 143660372 143663585 + 148590195 148613015 + 148982372 148994403 + 6480464 14702039;12477932;11181995;9847074;9110174;8619474 155060 AACC02000041;ABBA01033629;AC004890;AF035281;AK094035;AK095676;AK098351;AK303492;AK310396;AK310453;AK310680;AL832862;AMYH01018119;BC035824;CH471146;NR_036573 BAG64526;EAW80051 Hs.490512 1774922;2169477;5015861;5024756 A005V39;D10S16;RH80030;WI-18584 DKFZp667J212;DKFZp762P2111;FLJ12914;FLJ16713;FLJ17438;FLJ17495;FLJ17722;FLJ25485;FLJ36716;FLJ38357;FLJ61016;MGC149135 OTTHUMP00000213758;OTTHUMP00000213761;protein ZNF783;zinc finger family member 783;zinc finger protein 783 APPROVED pseudo ENSG00000244560 17309 PROVISIONAL 1606684 LOC200383 similar to Dynein heavy chain at 16F p11.2 6480464 12477932;11214970 200383 AB051484;AB290165;AC010087;AC098975;AK027182;AL512706;BC015442;BC117259 AAH15442;AAI17260;AAX93108;AAX93115;BAB15685;BAB21788;BAG06719;CAC21651;Q9C0G6 Hs.249972 KIAA1697 protein-coding 11244 2303488 LOC158572 uncharacterized LOC158572 X X X p11.23 53710634 53713266 - 49529194 49530069 - 49641327 49643959 - 16344560;14702039;12477932 158572 ABBA01063290;AC236430;AF238380;AK056746;AMYH01022321;BC093943;BC093945;BI086725;BX106362;CH471180;DA687298;NR_026742 BAG51801;EAW89931 Hs.408191 1768098;5493219 STS-AA032156;UniSTS:485362 APPROVED miscrna 18740 VALIDATED 2303894 LOC158696 uncharacterized LOC158696 X X X q26.3 138062880 138065787 - 137696892 137699799 - 137696892 137699799 - 16344560;14702039;12477932 158696 Q969H1 ABBA01065958;AK055234;AK055382;AL357123;AMYH01023056;BC105719;BC105725;BC105726;BC105727;BC139831;CH471150;DA392242;NR_026935 BAB70883;BAB70911;EAW88443 Hs.558664 FLJ30672 APPROVED miscrna 06549 VALIDATED 1604504 LOC220686 hypothetical protein LOC220686 22 q11.21 20157287 20201780 - 16189514;12477932;12107411;7566098 220686 Q6ZT68;Q8WUK7 AA300351;AA425488;AK126860;AP000557;BC020225;BQ638971;BX407261;BX452846;NM_199283 AAH20225;BAC86726;NP_954977;Q6ZT68;Q8WUK7 Hs.448225 protein-coding 14133 5686982 LOC284581 uncharacterized LOC284581 1 q32.1 205831207 205865215 + 14702039 284581 Q8N9I1 ABBA01027402;AK055746;AK094426;AK096315;AL713965;AMYH01001675;NR_046097;NR_046098 Q8N9I1 1685812 RH80179 FLJ37107 miscrna 17338 VALIDATED 1603345 LOC284757 uncharacterized LOC284757 20 20 q13.33 58327581 58328012 + 58713548 58897314 + 14702039;23028342 284757 ABBA01005950;ABBA01005951;ABBA01005952;ABBA01005953;AK092805;AK128288;AL035070;AL121918;AL132822;AMYH01012031;NR_046099 Hs.737441 5015881 GDB:335751 FLJ46426 APPROVED miscrna ENSG00000228340 17342 VALIDATED 1605829 LOC283874 hypothetical protein LOC283874 16 p13.3 2651151 2663443 - 14702039;12477932 283874 Q6ZMS2;Q9NX77 AC092117;AC141586;AK000400;AK091794;AK095440;AK097014;AK097909;AK131509;AX747190;BC043252;BX335435;NM_001012731 BAA91140;BAD18653;NP_001012749;Q6ZMS2;Q9NX77 Hs.647398 FLJ20393 protein-coding 13785 1642829 LOC285299 FSHD region gene 2 family, member C-like 3 p12.3 75796177 75799058 + 16641997;15520407 285299 AL592170;XM_003119203 XP_003119251 FRG2C FSHD region gene 2 family, member C-like protein-coding 1605252 LOC284009 uncharacterized LOC284009 17 17 17 p13.3 2326392 2334827 - 2257025 2265480 - 2310275 2318730 - 14702039;12477932 284009 Q4G0H6 ABBA01054704;ABBA01054705;AC006435;AK093990;AMYH01008012;AMYH01008013;BC093711;BC112034;CH471108;NR_028335 AAH93711;AAI12035;EAW90540 Hs.632244 1734444;1734464;1736638;2120390;2123539;5015861;5015961;5022322;7185938 D10S16;D11S2560;D15S1477;D17S1413E;D17S1430E;D17S1478E;RH48658;WI-13902 MGC138239 APPROVED miscrna 18767 PREDICTED 1601921 LOC285766 uncharacterized LOC285766 p25.3 14702039 285766 AK097546 Hs.657946 APPROVED miscrna 17346 2903113 LOC286453 chondroitin sulfate N-acetylgalactosaminyltransferase 2 pseudogene X X X q22.1 100730380 100731324 + 100098591 100099530 + 100211582 100212525 + 286453 ABBA01064111;AMYH01022723;NG_021119;Z97985 1690109;2177862 DXS9781;RH93061 APPROVED pseudo 18368 INFERRED 1603157 LOC284912 hypothetical gene supported by BC001801 22 q12.3 34352982 34361128 - 12477932 284912 Q9BUY1 AL049747;BC001801;BG471420;CH471095;NM_203375 AAH01801;EAW60068;NP_976309;Q9BUY1 Hs.306978 MGC3170 protein-coding 14155 4108149 LOC284751 uncharacterized LOC284751 20 20 q13.13 45613502 45635725 + 48909257 48931456 + 12477932;14702039 284751 Q4G0G3 ABBA01052777;AK090605;AL354889;AMYH01011973;BC093937;BC093939;NR_034124 AAH93937;AAH93939 Hs.282325 1784386 SHGC-153787 APPROVED miscrna ENSG00000203999 18771 PREDICTED 2303841 LOC284837 uncharacterized LOC284837 21 21 21 q22.3 30331233 30338042 - 44055880 44056870 - 45225639 45232448 - 14702039;12477932 284837 Q6ZR03;Q8N4G5 ABBA01074141;AK093410;AK128598;AMYH01012282;AP001053;BC031911;BC034348;BC111558;NR_026961 AAH34348;BAC87522;Q6ZR03 Hs.592159 MGC133248 APPROVED miscrna ENSG00000215458 11256 PREDICTED 1606112 LOC285033 uncharacterized LOC285033 2 2 2 q11.2 91347165 91348889 + 96269704 96271428 + 96874154 96908361 + 14702039;12477932 285033 Q3KRF4 ABBA01036593;ABBA01036594;AC012307;AI218644;AK057419;AK311432;AMYH01010721;BC101730;BC101732;CH471207;NR_046322 AAI01731;AAI01733;EAW71380;EAW71381 Hs.58648 1681532;2220594 RH93980;UniSTS:485708 MGC126779;MGC126781 hypothetical protein LOC285033;uncharacterized protein LOC285033 APPROVED miscrna 18772 VALIDATED 1606111 LOC285074 anaphase promoting complex subunit 1 pseudogene 2 2 2 p11.2 86775306 86796062 + 87102948 87130592 - 87257798 87303536 - 12477932;14702039;21906983 285074 ABBA01016295;ABBA01115667;AC092651;AC125232;AK057663;AMYH01010533;AMYH01010534;AMYH01010535;AMYH01010536;AMYH01010537;AMYH01010538;AMYH01010539;AMYH01010540;BC069048;BC132791;BC132793;BM454994;BX353812;NR_026846 AAH69048 Hs.424184 1775201;5020110;5106944;5110561 RH78790;SGC33166;SHGC-142614;SHGC-35119 pseudo ENSG00000231259 17345 VALIDATED 2305921 LOC285696 uncharacterized LOC285696 5 5 5 p15.1 17155547 17242953 - 17269438 17270598 - 17130137 17217531 - 14702039;12477932;23092984;19668339 285696 Q8NB94 ABBA01020689;ABBA01020690;ABBA01020691;AC026790;AC091878;AK091366;AK125192;AMYH01014934;BC093861;BC093887;CH471102;NR_027253 BAC03647;BAG54162;EAX08014 Hs.646924 1785556;2126205;5493331 G16902;SHGC-154910;UniSTS:485733 FLJ34047;FLJ43202 APPROVED miscrna ENSG00000215196 08169 PREDICTED 1603149 LOC388915 hypothetical LOC388915 22 q13.31 46915465 46917760 + 388915 Q5R3S2 CH471138;NM_001010902;Z78421 CAI18780;EAW73458;NP_001010902;Q5R3S2 Hs.405993 protein-coding 17377 1602624 LOC389286 similar to FKSG62 2 q33.1 201855046 201856103 + 389286 Q9BXE7;Q9BZ55;Q9BZ61 AF338197;AL161656;NM_001018022 AAK08113;NP_001018022;Q9BXE7;Q9BZ55;Q9BZ61 FKSG69 protein-coding 18613 1602037 LOC389607 hypothetical gene supported by AK128318 8 p23.3 597527 599962 - 389607 Q6ZRD0 AC090691;AK128318;NM_001013651 BAC87382;NP_001013673;Q6ZRD0 Hs.679027 protein-coding 18394 1601792 LOC389832 similar to chromosome 2 open reading frame 27 389832 AK124122;CR382287;NM_001013654;XM_001133346 BAC85780;NP_001013676;Q6ZVT1;XP_001133346 Hs.613108 protein-coding 18615 4107890 LOC338797 uncharacterized LOC338797 12 12 12 q24.33 131459657 131460156 + 130416575 130416934 + 131850570 131851069 + 12477932;20400778 338797 Q4G0G9 ABBA01032816;AC092850;AC139874;AC140118;AK098523;AMYH01004888;BC093897;BC093899;NR_103736;XR_109112;XR_111362;XR_171987 AAH93897;AAH93899 Hs.592007 2126687 UniSTS:495131 APPROVED miscrna 18782 VALIDATED 1603469 LOC389936 similar to proline-rich proteoglycan 2 10 p14 9489036 9490256 + 389936 Q6ZMV0 AK131480;AL355591;NM_001013656 BAD18625;NP_001013678;Q6ZMV0 Hs.532673 protein-coding 18399 1603330 LOC391343 similar to CG2839-PA 2 p25.3 892823 896011 - 391343 AC113607;AK128042;NM_001013662 NP_001013684 Hs.719768 protein-coding 18405 1601911 LOC392395 similar to hemicentin 9 q34.11 132108993 132112161 + 392395 Q6ZRS5 AK128020;AL360004;NM_001013664 BAC87234;NP_001013686;Q6ZRS5 Hs.512559 protein-coding 18407 1604923 LOC388152 golgin A2 pseudogene 15 15 q25.2 82660151 82689960 - 84867600 84898920 - 12477932;16751776 388152 Q8NCE8 ABBA01004477;AC136698;AK074778;AK307326;AK309056;AK311265;AMYH01006869;AW205478;BC054509;BC071951;BC096759;BG248101;BU931675;DQ573151;DQ575135;NR_027001 BAC11203;Q8NCE8 Hs.405809;Hs.546614 FLJ90297;MGC60197 APPROVED pseudo ENSG00000225151 14199 VALIDATED 1603329 LOC400464 similar to FLJ43276 protein 15 q26.3 98164259 98165704 + 400464 Q6ZSI0 AC090825;AK127420;NM_001013670;XM_942476 BAC86971;NP_001013692;Q6ZSI0;XP_947569 Hs.187134 protein-coding 18413 1604684 LOC399900 hypothetical gene supported by AK093779 11 q12.3 61491842 61493538 + 14702039 399900 Q8N204 AK093779;AP003733;BC132894;BC132896;NM_001013667 AAI32895;AAI32897;BAC04223;NP_001013689;Q8N204 Hs.528437 1683419 RH94224 protein-coding 18410 1606079 LOC400707 hypothetical gene supported by AK124070 19 q13.32 51689605 51691595 + 400707 Q6ZVU4 AC011484;AK124070;BC132839;BC132841;NM_001013673 AAI32840;AAI32842;BAC85766;NP_001013695;Q6ZVU4 Hs.534777 1856416 STS-AA022541 protein-coding 18417 4140188 LOC400499 uncharacterized LOC400499 16 16 16 p13.13 11661134 11774135 - 11397888 11510318 - 11536047 11585611 - 400499 I3L099;Q6ZTK2 ABBA01006813;ABBA01006814;ABBA01006815;ABBA01006816;AC099489;AK126539;AMYH01007153;CH471112;XM_003118689;XM_003119653;XM_003960599 BAC86584;EAW85154;Q6ZTK2;XP_003118737;XP_003119701;XP_003960648 Hs.459937 1337035;1753771;1764211;2119378;5015961 D15S1477;D16S2613;D16S2627;SHGC-147848;SHGC-89223 hypothetical protein LOC400499;uncharacterized LOC400499;uncharacterized protein LOC400499 APPROVED protein-coding ENSG00000188897 18414 MODEL 1603239 LOC388882 hypothetical LOC388882 22 q11.23 22134273 22159167 - 12477932 388882 Q8N402 AP000344;AP000345;BC036910;NM_001006606 AAH36910;NP_001006607;Q8N402 Hs.542766 1684920 RH80328 protein-coding 14207 1605544 LOC286526 Ras-like GTPase-like X q22.1 102078856 102079884 + 15772651;15489334;12477932;12076535 286526 P0C0E4 BC101169;BC101170;BC101171;BC101172;NM_001031834;Z95624 AAI01170;AAI01171;AAI01172;AAI01173;CAB09136;NP_001027004;P0C0E4 Hs.449517 MGC119958;MGC119959;MGC119960;MGC119961;RAR2 protein-coding 18778 1601686 LOC388692 uncharacterized LOC388692 1 1 q21.2 147552369 147558367 + 149279476 149291742 + 14702039;12477932 388692 Q6ZVI0;Q6ZW35 ABBA01154137;AC239798;AK023642;AK123662;AK124550;AL356957;AMYH01001371;BC023516;BC082253;BC141801;NR_027002 BAC85672;BAC85881;Q6ZW35 Hs.271249;Hs.728022 1679015;1688510;1693066;2114696;5024039;5111715;5123998;5124497 AL033619;AL034259;D16S325;G34711;RH27224;RH28693;RH47790;RH79070 FLJ13580;FLJ42559 APPROVED miscrna 18386 PREDICTED 1605187 LOC401072 hypothetical gene supported by AK125942 3 p14.1 70745439 70749502 - 401072 Q6ZU73 AC104633;AK125942;NM_001013679 BAC86353;NP_001013701;Q6ZU73 Hs.631904 protein-coding 18423 1601791 LOC389834 ankyrin repeat domain 57 pseudogene 4 177059 179480 + 12477932 389834 Q6ZW97 ABBA01017939;AK123403;AL354822;BC137367;NR_027420 AAI37368;BAC85607 Hs.720653 2111288;5015621 D11S3732;D17S837 pseudo 18398 VALIDATED 1602619 LOC400924 hypothetical gene supported by AK056895 22 q12.2 28754223 28756494 + 14702039 400924 Q96MI5 AC003071;AK056895;CH471095;CR608861;NM_001013676 BAB71303;EAW59856;NP_001013698;Q96MI5 Hs.534783 protein-coding 18420 1602397 LOC401052 uncharacterized LOC401052 3 3 3 p25.3 9983552 9988232 - 10023102 10027779 - 10048102 10052779 - 14702039 401052 B3KMQ7 ABBA01020396;AC022007;AK022260;AMYH01012966;AX882003;CH471055;NM_001008737 BAG51069;CAE91429;EAW64048;NP_001008737 Hs.662766 1699916;5015619 D11S3114;RH103566 hypothetical protein LOC401052;uncharacterized protein LOC401052 APPROVED protein-coding 17389 PREDICTED 1602148 LOC401286 hypothetical gene supported by AK127120 6 q27 167812678 167813432 - 401286 Q6ZSV7 AK123853;AK127120;AL732359;CH471051;NM_001023565 BAC85709;BAC86839;EAW47492;NP_001018859;Q6ZSV7 Hs.487182 protein-coding 18625 1604679 LOC401296 hypothetical protein LOC401296 7 p22.3 1698972 1700057 - 401296 Q6ZUE6 AC074389;AK125766;BC132760;CH236953;NM_001024677 AAI32761;BAC86279;EAL23946;NP_001019848;Q6ZUE6 Hs.520617 protein-coding 18626 2303861 LOC339524 uncharacterized LOC339524 1 1 1 p22.3 85841152 85880575 + 87368260 87375184 + 87595448 87634887 + 16344560;12477932;8889548;14702039;19247474 339524 Q6ZW34 ABBA01045607;ABBA01045608;AC093155;AL139139;AL833352;AMYH01000772;BC030523;BC041867;BC126240;BC132861;BI818944;BM679066;BM722117;CH471097;DA398164;DA981741;DB100426;DB462107;NR_026985;NR_026986;NR_026987;NR_026988;NR_026989 AAI26241;EAW73175;Q6ZW34 Hs.306423 1689207;1781620;2160638;5491304;5493847 AW546958;RH92748;SHGC-153532;SHGC-75102;UniSTS:495279 FLJ11317;MGC161518 APPROVED miscrna ENSG00000267272 14169 VALIDATED 1601908 LOC401410 hypothetical LOC401410 7 q34 140758847 140762659 - 401410 AC005692;BX648692;CH236950;NM_001008742 EAL24021;NP_001008742 Hs.531393 1794810 PMC58741P2 protein-coding 17390 1602618 LOC400940 uncharacterized LOC400940 2 2 2 p25.2 6036213 6042467 + 6040150 6041913 + 6122110 6128364 + 16344560;14702039 400940 Q6ZWI0 ABBA01023889;AC073479;AK095714;AK123041;AMYH01010084;DA745281;NR_026833 BAC85522 Hs.378814 FLJ38395 APPROVED miscrna 16952 PREDICTED 1601906 LOC401467 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like pseudogene 8 8 8 q21.2 82559379 82561179 - 86896198 86898259 - 86787279 86789306 - 401467 AC232323;AF279874;NG_009315 pseudo INFERRED 1602614 LOC439985 hypothetical gene supported by AK125693 10 q22.2 76825430 76828717 + 439985 Q6ZUH8 AC010997;AK125693;NM_001013696 BAC86247;NP_001013718;Q6ZUH8 Hs.621975 protein-coding 18439 1602025 LOC401398 hypothetical protein LOC401398 7 q31.33 124357188 124606605 + 14702039 401398 Q8NBE4 AC019155;AC073322;AC096665;AK090675;BX648695;CH236947;NM_001023566 BAC03501;EAL24323;NP_001018860;Q8NBE4 Hs.658551 protein-coding 18627 1604420 LOC440313 hypothetical gene supported by AK127131 15 q26.3 99141689 99142213 - 440313 Q6ZSV3 AC087762;AK127131;NM_001013704 BAC86843;NP_001013726;Q6ZSV3 Hs.534903 5015404;5015619;5016478;5019070;5024413 D11S3114;G44334;GDB:434012;L17705;L17877 protein-coding 18448 1601787 LOC401589 hypothetical protein LOC401589 X p11.22 51810696 51814085 - 14702039 401589 Q8N8P6 AK096379;BX322790;NM_001013687 BAC04772;CAH70175;NP_001013709;Q8N8P6 Hs.553803 protein-coding 18430 1606858 LOC440742 hypothetical gene supported by AK124614 1 q44 242294255 242295027 + 440742 Q6ZVG0 AK124614;AL590483;NM_001013710 BAC85901;NP_001013732;Q6ZVG0 Hs.629644 protein-coding 18453 1602795 LOC400891 chromosome 14 open reading frame 166B pseudogene 22 22 22 q11.21 4891551 4909746 + 19730249 19748457 + 21400249 21418457 + 12477932 400891 Q6ZQY2 ABBA01015432;AC002472;AK128646;AMYH01012541;BC028231;BC036220;BC140948;BC140950;CH471176;NR_027006 BAC87547;EAX02907;Q6ZQY2 Hs.291198 1674448;1716383;1754745;1761305;2126084;5021872;5022450;5037552 D10S275;D22S548;D22S555;D8S2279;RH121372;SHGC-133106;SHGC-145314;sY3084 pseudo ENSG00000187905 18419 VALIDATED 1604427 LOC401351 hypothetical gene supported by BC040831 7 q11.21 62446338 62449580 + 12477932 401351 Q6ZQP9 AC006455;AK128835;BC040831;XM_379843;XM_926596;XM_935479;XM_935792;XM_938438;XM_943672 BAC87635;Q6ZQP9;XP_379843;XP_931689;XP_940572;XP_940885;XP_943531;XP_948765 Hs.599397 protein-coding 18428 1604897 LOC440157 hypothetical gene supported by AK096951; BC066547 14 q11.1 18754782 18757542 + 12477932 440157 Q6NYL1 AL589743;BC066547;NM_001013701 AAH66547;NP_001013723;Q6NYL1 Hs.659013 protein-coding 18445 1602027 LOC401357 uncharacterized LOC401357 7 7 p11.2 56843501 56849703 - 56876817 56880429 - 12477932 401357 Q6ZRM9 ABBA01017734;AC118758;AK125790;AK128114;AMYH01017289;BC137417;JX508854;XR_132464;XR_159055;XR_159081;XR_171646;XR_172480 AFT92038;BAC87281;Q6ZRM9 Hs.457696 5127133 RH65122 APPROVED miscrna 18429 MODEL 1602945 LOC441070 similar to FLJ44076 protein 5 p12 44874940 44876452 + 441070 Q6ZWE7 AC116331;AK123203;NM_001013715 BAC85556;NP_001013737;Q6ZWE7 Hs.121853 protein-coding 18458 1602612 LOC441268 hypothetical gene supported by BC044942 7 q21.3 97394320 97396698 - 441268 Q6ZUZ7 AC079781;AK125166;NM_001013725 BAC86069;NP_001013747;Q6ZUZ7 Hs.668620 protein-coding 18463 1606362 LOC440905 uncharacterized LOC440905 2 2 2 q21.1 124094302 124103543 - 130523952 130524643 - 130783571 130808704 - 12477932 440905 Q6ZU82 ABBA01040139;ABBA01040140;AC018865;AC079776;AK125921;AMYH01011041;BC132694;BC132696;BC144438;CH471103;NR_026758 AAI44439;BAC86344;EAW95363;Q6ZU82 Hs.469918 5117222 GDB:451839 APPROVED miscrna ENSG00000180178 18454 PREDICTED 1603803 LOC440570 LOC440570 1 p36.13 17070597 17073168 + 12477932 440570 A0AVG0;Q6ZUF8 AK125737;BC126340;BX284668;NM_001013708 A0AVG0;AAI26341;BAC86267;NP_001013730;Q6ZUF8 Hs.308060 1744679;5014055;5493703 D1S3697;GDB:549214;UniSTS:490442 protein-coding 18452 1601679 LOC441956 similar to cDNA sequence BC021523 21 q11.2 13973492 13975330 - 441956 Q6ZUI3 AK125677;AL050303;NM_001013729 BAC86242;NP_001013751;Q6ZUI3 Hs.535148 2220578 UniSTS:485532 protein-coding 18467 1602793 LOC441120 similar to LOC285679 protein 5 q35.3 178931763 178932348 + 14702039 441120 Q8NA96 AC136604;AK093042;NM_001013718 BAC04030;NP_001013740;Q8NA96 Hs.631949 protein-coding 18643 1602259 LOC401109 uncharacterized LOC401109 3 3 3 q29 194453955 194455681 + 197353904 197372158 + 195869507 195887761 + 12477932 401109 Q6ZPD5 ABBA01033713;AC139666;AK129507;AMYH01013793;BC144578;BC144579;BC144580;BC151150;NR_034088 AAI51151;BAC85170 Hs.280133 FLJ25996 APPROVED miscrna ENSG00000224652 16924 VALIDATED 1606360 LOC440925 uncharacterized LOC440925 2 2 2 q31.1 165185617 165187745 - 171277195 171279317 - 171568949 171571077 - 12477932 440925 Q6ZW80 ABBA01014917;AC007405;AK123485;AMYH01011257;BC132926;BC132928;NR_027433 BAC85625 Hs.668461 APPROVED miscrna ENSG00000222033 18455 VALIDATED 1605480 LOC441257 hypothetical LOC441257 7 q11.23 72128377 72134308 - 12477932 441257 Q2TAP3;Q86WY7 AC005488;BC047594;BC110795;NM_001023562 AAH47594;AAI10796;NP_001018856;Q2TAP3;Q86WY7 Hs.571275;Hs.645327 MGC131642 protein-coding 18650 1605155 LOC541469 hypothetical protein LOC541469 19 q13.2 43486040 43487500 - 12477932 541469 AC011479;AK027130;BC025257;CH471126;CR625148;NM_001013617 AAH25257;BAB15669;EAW56768;NP_001013639 Hs.660510 protein-coding 18479 5133383 LOC441242 uncharacterized LOC441242 7 7 q11.21 64749359 64873235 - 65111924 65235797 - 12477932;14702039 441242 Q6NXN2 ABBA01049023;ABBA01049024;ABBA01049025;ABBA01049026;AC073107;AC104057;AMYH01017475;AMYH01017476;AMYH01017477;AMYH01017478;AMYH01017479;AMYH01017480;AMYH01017481;AMYH01017482;BC066990;CN483231;NR_038378;NR_103527 AAH66990 Hs.373941 1671887;1725771;2118594;2138914 G23512;G62070;GDB:1317576;GDB:1317598 APPROVED miscrna 18462 VALIDATED 2292182 LOC63930 uncharacterized LOC63930 20 20 20 q13.33 58317384 58393930 + 61111182 61182290 + 61640735 61716423 + 12477932;11780052;22219177 63930 ABBA01021378;ABBA01021379;ABBA01021380;ABBA01021381;AK128329;AK310606;AL121673;AMYH01012069;AMYH01012070;NR_033370 Hs.640084 1784374 SHGC-146520 FLJ17648;FLJ46471 APPROVED miscrna 12773 PREDICTED 1603422 LOC643406 uncharacterized LOC643406 20 20 20 p12.3 5521865 5527803 + 5399842 5403527 + 5451842 5457780 + 12477932 643406 Q8N5R8 ABBA01053880;AK125948;AL121757;AMYH01011694;BC031676;CH471133;NR_029405 AAH31676;BAC86356;EAX10419;EAX10420 Hs.431161 2107383;5118412 D11S3270;MGC35023__7712 MGC35023 APPROVED miscrna 14595 VALIDATED 1605154 LOC541473 FK506 binding protein 6, 36kDa pseudogene 7 7 q11.23 74859165 74862644 - 75021229 75024708 - 12477932 541473 AC006014;AC211486;AK310313;AMYH01017552;BC022013;BC067783;HY019943;HY214099;NR_003602 Hs.645394;Hs.695009 2136686 GDB:4585047 MGC88170 pseudo ENSG00000146722 18674 VALIDATED 1603288 LOC88523 CG016 13 q13.1 31904971 31994412 - 14702039;8812419 88523 Q6ZV26;Q96KV2;Q9Y3H6 AK093514;AL049802;AL137247;AL353665;CR596312;NM_033111;U50529 CAB42563;CAI13193;NP_149102;Q6ZV26;Q96KV2;Q9Y3H6 Hs.507680 protein-coding 14264 1605900 LOC91431 prematurely terminated mRNA decay factor-like 4 q25 113679949 113728256 - 14702039 91431 AC023886;AK090556;AK126054;AL137700;BX647594;NM_001099776 BAC86416;BAG52184;CAB70881;NP_001093246;Q6ZU11 Hs.444338 protein-coding 17436 1602607 LOH12CR2 loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) 12 12 12 p13.2 17651958 17653616 - 12508342 12510001 - 12508342 12510001 - 6480464 15284860;11896457 503693 Q96QS4 ABBA01067839;AC007621;AMYH01004289;AY037867;BE645784;CH471094;NR_024061 AAK71330;EAW96256 Hs.67553 1658688;5014051;5015619;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;L18426;RH47690 LOH2CR12 APPROVED miscrna ENSG00000205791 26524 VALIDATED 1352245 LOH18CR1 loss of heterozygosity, 18, chromosomal region 1 9718349 23703 6659 1347476 LOH19CR1 loss of heterozygosity, 19, chromosomal region 1 9241274 8378 6660 1353466 LOH1CR1 loss of heterozygosity, 1, chromosomal region 1 8377 6661 2304155 LOC84931 uncharacterized LOC84931 2 2 2 q14.2 114546830 114548844 - 120939473 120940395 - 121221911 121223925 - 14702039;12477932;22747683 84931 Q96K35 ABBA01032225;AC073257;AK027722;AMYH01010992;BC112205;BC113708;CH471103;NR_027181 AAX93136;BAB55323;EAW95244 Hs.334519 5493271 UniSTS:485545 FLJ14816;MGC138410 APPROVED miscrna ENSG00000268194 08604 VALIDATED 2292120 LOC93622 Morf4 family associated protein 1-like 1 pseudogene 4 4 4 p16.1 6577846 6579799 + 6726578 6728675 + 6675821 6677774 + 12477932;19322201 93622 ABBA01012726;AC093323;AK026375;AK314832;AMYH01013918;BC006130;BC021542;BC026970;BC040997;BC066911;BC073972;CH471131;NR_015433 BAG37352;EAW82385 Hs.6815 2140278;2156178;2162521 NIB1869;SHGC-50485;SHGC-59840 APPROVED pseudo 14300 PREDICTED 1601954 LOC81691 exonuclease NEF-sp 16 16 16 p12.3 20127666 20170873 + 20725334 20768488 + 20817767 20860990 + 11256614;16381901;16344560;15489336;14702039;12477932;11230166;11076863;10493829 81691 Q96IC2 ABBA01028287;AC004381;AF332193;AK314458;AL136763;AL162035;AMYH01007345;BC007646;BC068503;CH471228;DB030041;DB059505;NM_001144924;NM_001199053;NM_030941 AAC31668;AAH07646;AAH68503;AAK17192;BAG37066;CAB66697;CAB82386;CAL37723;EAW66838;EAW66839;EAW66840;EAW66841;NP_001138396;NP_001185982;NP_112203;Q96IC2 Hs.177926 1684872;1722389;1756519;2155210 G60267;RH75228;SHGC-143552;SHGC-60631 DKFZp434J0315 OTTHUMP00000162294;putative RNA exonuclease NEF-sp protein-coding ENSG00000005189 17433 VALIDATED 1316927 LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 12 12 12 p12 17653635 17763988 + 12401322 12511105 + 12510020 12619838 + 6480464 16189514;15284860;12477932;11896457;20473970;23000965;23128233 118426 G3V1P3;Q969J3 ABBA01067839;ABBA01067840;ABBA01067841;ABBA01067842;ABBA01067843;AC007619;AC007621;AK075028;AMYH01004289;AMYH01004290;AMYH01004291;AY037865;AY037866;BC013668;CH471094;CQ783014;NM_058169 AAH13668;AAK71328;AAK71329;ABM82704;ABM85888;BAC11360;CAF86221;EAW96257;EAW96258;EAW96259;EAW96260;NP_477517;Q969J3 Hs.720779 1652074;1658688;1689995;1853848;2107271;2183267;2185291 G41284;G41285;G41290;G41292;LOH12CR1__6407;RH47690;RH92743 LOH1CR12 OTTHUMP00000238989;OTTHUMP00000238990;OTTHUMP00000238991;loss of heterozygosity 12 chromosomal region 1 protein protein-coding ENSG00000165714 17950 17439 VALIDATED 5130638 LONRF2P1 LON peptidase N-terminal domain and ring finger 2 pseudogene 1 18 14450218 14450882 - 100421827 AMYH01008856;AP006261;NG_026274 pseudo 39828 INFERRED 1604793 LOC80154 golgin A2 pseudogene 15 15 q25.2 80552196 80585473 - 83140199 83182930 - 12477932;10746788;15156102;8439957;16751776;14702039;15489334;8889548;9847074 80154 Q9BXM8;Q9H5Y0 AC010724;AC135995;AF316855;AI005278;AK026448;AK309420;AK309732;AK310769;AK311124;AK311170;BC007811;BC065260;BC072390;BM981202;NR_026811;NR_033936;NR_103496 AAK15476;BAB15487;Q9BXM8;Q9H5Y0 Hs.454640;Hs.546614 FLJ17811;FLJ22795;FLJ99461 APPROVED pseudo 08007 VALIDATED 5130639 LONRF2P2 LON peptidase N-terminal domain and ring finger 2 pseudogene 2 13 19183186 19183845 + 100421799 AL359737;AMYH01004926;NG_024885 pseudo 39829 INFERRED 2305709 LOC96610 BMS1 homolog, ribosome assembly protein (yeast) pseudogene This locus appears to be a transcribed pseudogene of the BMS1 homolog of yeast ribosome assembly protein on chromosome 10 that has arisen from duplication of the 3' half of the parent gene. Frameshifts and premature stop codons are present in this pseudogene compared to the parent gene. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21.[provided by RefSeq, Mar 2009] 22 22 22 q11.22 6471978 6485282 + 20987589 20993088 + 22652463 22677324 + 9074928;16344560;14702039;12477932;11779832 96610 ABBA01055083;AK090629;AMYH01012639;BC033148;BC133659;BX641141;CH878729;D87003;D87018;DB021899;DB472458;NG_000002;NR_027293 EAW53962 Hs.449601 1678437;1698642;1756857;1772132;2176041;5022578;5037552;5093552 A009Q33;D1S1423;D8S2279;G32786;RH102878;RH38870;SHGC-144016;WI-21900 APPROVED pseudo ENSG00000236850 14302 REVIEWED 1605609 LONP2 lon peptidase 2, peroxisomal 16 16 16 q12.1 32785336 32894994 + 46835712 46944908 + 48278211 48387407 + 6480464 18281296;14702039;14561759;12477932;15870080;19615732;22002062;19322201 83752 B7ZKL7;E7EN44;H3BPF7;H3BQ67;H3BUW8;Q86WA8 ABBA01000916;ABBA01000917;AC007600;AC023818;AJ548761;AK027544;AK027666;AK074775;AK090452;AK127125;AK130091;AK172790;AK294779;AL834201;AMYH01007646;BC002916;BC004234;BC093910;BC093912;BC110434;BC143246;CH471092;NM_031490 AAH02916;AAH04234;AAH93910;AAH93912;AAI10435;AAI43247;BAB55278;BAC03433;BAC11201;BAD18769;BAG51340;BAG54439;BAG57906;CAD38889;CAD68987;EAW82723;EAW82724;EAW82725;NP_113678;Q86WA8 Hs.731827 1661658;1676021;1696970;1729479;1736606;1851408;5022450 D10S275;D16S2600E;D16S285;RH101957;RH15645;RH65180;WI-12239 LONP;LONPL;MGC4840 OTTHUMP00000164187;lon protease 2;lon protease homolog 2, peroxisomal;lon protease-like protein 2;peroxisomal LON protease like;peroxisomal Lon protease homolog 2 protein-coding 20598 07491 PROVISIONAL 734453 LONP1 lon peptidase 1, mitochondrial This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013] 19 19 p13.2 5642845 5671176 - 5691845 5720176 - 633879;1580724;1580863;6480464 12082077;12372343 9485316;12198491;17418790;18063578;18378094;18029348;18021745;15683722;15489334;14702039;12657466;12477932;8666383;8119403;7961901;14739292;8248235;17420247;18174225;21145461;20562859;17584658;19615732;20843780;20877624;20933102;21163940;22939629;21347624;21659532;17314511;17342744;20186120;18781797;21139048;22079093;21252943;22586326;22623428;22904065;23201127 9361 B3KPH8;F5GZ27;K7EJE8;K7EKE6;K7EQF8;K7ER27;K7ER56;K7ERR6;K7ERS1;P36776;Q8N8K8 ABBA01055998;ABBA01055999;ABBA01056000;ABBA01056001;AC011499;AF059296;AF059309;AK056366;AK096433;AK096626;AK127867;AK298531;AK309720;AL096720;AMYH01009363;AMYH01009364;BC000235;BC109218;BC109219;BC139726;BI906625;CH471139;HQ204946;HQ204947;HQ204948;HQ204949;HQ204950;HQ204951;HQ204952;HQ204953;HQ204954;HQ204955;HQ204956;HQ204957;HQ204958;HQ204960;HQ204961;HQ204962;HQ204963;HQ204964;HQ204965;HQ204966;HQ204968;HQ204969;HQ204970;HQ204971;HQ204972;HQ204973;HQ204974;HQ204975;HQ204976;HQ204977;HQ204978;HQ204979;HQ204980;HQ204981;HQ204982;HQ204983;HQ204984;HQ204985;NG_033142;NM_001276479;NM_001276480;NM_004793;NR_076392;U02389 AAA61616;AAD24414;AAH00235;AAI09219;AAI39727;ABM83881;ABM87201;ADP90374;ADP90375;ADP90376;ADP90377;ADP90378;ADP90379;ADP90380;ADP90381;ADP90382;ADP90383;ADP90384;ADP90385;ADP90386;ADP90388;ADP90389;ADP90390;ADP90391;ADP90392;ADP90393;ADP90394;ADP90396;ADP90397;ADP90398;ADP90399;ADP90400;ADP90401;ADP90402;ADP90403;ADP90404;ADP90405;ADP90406;ADP90407;ADP90408;ADP90409;ADP90410;ADP90411;ADP90412;ADP90413;BAC04829;BAG51690;BAG53290;BAG54587;BAG60732;EAW69151;EAW69152;EAW69153;EAW69154;NP_001263408;NP_001263409;NP_004784;P36776 Hs.350265 1783776;2108401;5017617 LONP1;PRSS15_7943;SHGC-107998 LON;LONP;LonHS;MGC1498;PIM1;PRSS15;hLON Lon protease-like protein;hLON ATP-dependent protease;lon protease homolog, mitochondrial;mitochondrial ATP-dependent protease Lon;mitochondrial lon peptidase 1;mitochondrial lon protease-like protein;protease, serine, 15;serine protease 15 APPROVED protein-coding ENSG00000196365 9479 05689 605490 REVIEWED 1347914 LOR loricrin This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008] 1 1 q21 151498803 151501224 + 153232179 153234600 + 1580863;6480464;7240710 10908733;2007607;18844868;18166499;17953701;15598222;15102081;12615358;12477932;12200429;12072018;11703298;11443109;10798362;10066784;9690138;9326398;9326323;8999895;8673107;8274037;8248167;7592852;1355480;16169070;21221983;20634891;19601998;19672094;20184865;20236940;11698679;21198793;22831754 4014 P23490;Q6FHY3 AB013076;ABBA01049433;AL161636;AMYH01001403;BC034690;BC108290;CH471121;CR536555;M61120;M94077;NG_011818;NM_000427 AAA36180;AAA36181;AAH34690;AAI08291;BAA25794;CAG38792;EAW53339;NP_000418;P23490 Hs.251680 1742193;1763309;2158690;2162555 D4S3344;GDB:193281;RH17713;SHGC-147038 MGC111513 OTTHUMP00000015823;loricrin APPROVED protein-coding ENSG00000203782 6663 01070 152445;604117 REVIEWED 1312479 LOXHD1 lipoxygenase homology domains 1 This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010] 18 18 18 q21.1 40864351 41044583 - 42343528 42435624 - 44056935 44236996 - 737633;7240710 12477932 21465660;22341973;17353931;14702039;10737800;19732867;20379614;20301607 125336 B7Z7T7;C9IYQ1;C9J269;C9JMG7;F5GXP0;F5GZB4;F8WA52;H7BZ41;J3KRE7;J3QKX9;Q8IVV2 ABBA01022317;ABBA01022318;ABBA01022319;AC018931;AC064800;AC091139;AK057232;AK127869;AK302484;AK302848;AMYH01008974;BC041860;BC047720;BF901688;BG722402;BX647229;CH471088;DR731345;DR731346;NG_016646;NM_001145472;NM_001145473;NM_001173129;NM_144612 AAH41860;AAH47720;BAB71390;BAH13723;BAH13821;EAX01477;EAX01478;EAX01479;EAX01480;NP_001138944;NP_001138945;NP_001166600;NP_653213;Q8IVV2 Hs.345877 1725243;1762685 RH118914;SHGC-146480 DFNB77;FLJ32670;LH2D1 OTTHUMP00000163480;OTTHUMP00000163481;OTTHUMP00000163482;OTTHUMP00000196916;OTTHUMP00000196917;lipoxygenase homology domain-containing protein 1 APPROVED protein-coding ENSG00000167210 26521 08316 613072;613079 REVIEWED 1605309 LONRF1 LON peptidase N-terminal domain and ring finger 1 8 8 8 p23.1 11544278 11577192 - 12623777 12657363 - 12579406 12612992 - 6480464 18253036;15489334;14702039;12477932;19549727;23105109;22493164 91694 E9PQH4;E9PRX6;H7C5V9;Q17RB8 AA017498;AA284268;ABBA01021632;ABBA01021633;ABBA01021634;AC123777;AI004802;AK074329;AK297266;AK300538;AMYH01018526;BC004538;BC106042;BC117381;BC117385;BQ718281;CH471080;NM_152271 AAH04538;AAI17382;AAI17386;BAB85052;BAG59741;BAG62246;EAW63860;NP_689484;Q17RB8 Hs.180178 1677274;2171277;2181706;2190665 D8S12720;RH78063;RH91956;STS-AA007596 FLJ23749;RNF191 LON peptidase N-terminal domain and RING finger protein 1;OTTHUMP00000159901;OTTHUMP00000229915;RING finger protein 191 protein-coding ENSG00000154359 26302 08674 PROVISIONAL 1604220 LONRF2 LON peptidase N-terminal domain and ring finger 2 2 2 2 q11.2 95094286 95143712 - 100256185 100305627 - 100889753 100939195 - 6480464 19240061;15489334;14702039;12477932;19615732;21890473 164832 Q1L5Z9 ABBA01073935;AC012493;AC104782;AK056373;AK094044;AK123836;AK124739;AK127206;AK128715;AL157505;AMYH01010809;BC101662;BC101664;BC143468;BC143471;BF436808;CH471127;DQ020495;NM_198461 AAI01663;AAI01665;AAI43469;AAY84832;BAC86883;EAX01846;EAX01847;EAX01848;EAX01849;NP_940863;Q1L5Z9 Hs.21380 1705118;2181743;5022322;5124621 D11S2560;D2S1675E;RH98157;SHGC-79983 FLJ45273;MGC126711;MGC126713;RNF192 LON peptidase N-terminal domain and RING finger protein 2;OTTHUMP00000161253;OTTHUMP00000203187;RING finger protein 192;neuroblastoma apoptosis-related protease protein-coding ENSG00000170500 24788 13503 VALIDATED 6769573 LOXL1-AS1 LOXL1 antisense RNA 1 15 q24.1 74209809 74220589 - 14702039;16344560;20379614;17690259 100287616 ABBA01038704;ABBA01038705;AC108137;AK001164;AK056376;AK056885;AMYH01006780;BC017577;BQ020741;BX355383;BX366015;DA021396;DA038997;NR_040066;NR_040067;NR_040068;NR_040069;NR_040070 Hs.599785 1341809;5022200;5109281 D15S818;D1S1425;L18426 APPROVED miscrna ENSG00000261801 44169 VALIDATED 1351493 LONRF3 LON peptidase N-terminal domain and ring finger 3 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008] X X X q24 118563552 118606769 + 117992741 118035978 + 118108713 118151950 + 6480464 15772651;15761153;15489334;14702039;12477932;8744354 79836 B3KUN7;H0Y7Q8;Q496Y0 ABBA01036730;AK026265;AK091777;AK097641;AK290198;AL772284;AMYH01022879;BC098283;BC099847;BC100671;BC103491;CH471161;NG_012577;NM_001031855;NM_024778 AAH99847;AAI00672;AAI03492;BAB15419;BAC03744;BAF82887;BAG53499;EAW89885;EAW89886;EAW89887;EAW89888;NP_001027026;NP_079054;Q496Y0 Hs.144266 2217912;5017907 LONRF3;RNF127_2789 FLJ22612;MGC119463;MGC119465;RNF127 LON peptidase N-terminal domain and RING finger protein 3;OTTHUMP00000023893;OTTHUMP00000023894;OTTHUMP00000023895;OTTHUMP00000215170;ring finger protein 127 APPROVED protein-coding ENSG00000175556 21152 06708 REVIEWED 1346284 LPAL1 lipoprotein, Lp(a)-like 1 7679504 4019 6668 736846 LOX lysyl oxidase The protein encoded by this gene is an extracellular copper enzyme that initiates the crosslinking of collagens and elastin. The enzyme catalyzes oxidative deamination of the epsilon-amino group in certain lysine and hydroxylysine residues of collagens and lysine residues of elastin. In addition to crosslinking extracellular matrix proteins, the encoded protein may have a role in tumor suppression. Defects in this gene are a cause of autosomal recessive cutis laxa type I (CL type I). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 5 5 q23.2 121429918 121441853 - 121398890 121414055 - 1580835;1581883;1581895;1581887;1581881;1581896;1581899;1581885;1581886;1581902;1580863;6480464 15273433;14553832;8638917;10965315;15218472;8562290;24127;12417550;12393934;15816421 1357535;1352776;1685472;15609325;19111879;19029090;19020742;18764858;18566459;17849172;17673218;17616686;17395448;16642001;16533769;16440329;16357151;16344560;16251195;16023247;15843371;15489334;15374948;15137057;15110773;12820424;12750963;12686141;12577300;12477932;12452073;12101112;11916256;11807790;11675877;11642359;10391127;9111998;8636146;8442432;8100215;8082810;7902322;7706256;6912069;6147899;6144680;6127904;3120785;2874833;2863189;1683640;23188504;23262025;20498644;15146197;19394199;19406911;19526206;19654310;19661442;19667273;19724858;19816945;20026874;20179655;20379614;20453000;20929399;20956321;20146053;20689807;22722997;19583806;20812961;21239473;21282564;21215756;21306648;21318022;20717923;22533780;21546528;21536655;22948781;21532881;22824984;21740577;19087518;21995629;22438909;21575462;21612403;19570982;21565611;22966818;22994786;23413430;23165370;23400010;23267843;23667531;23494965;22883193;22767499 4015 B7ZAJ4;D0PNI2;H0YAL3;P28300 ABBA01068960;AC010255;AF039290;AF039291;AF270645;AI536895;AK297709;AK298781;AK307559;AK307732;AK312269;AK315873;AK316309;AMYH01015583;BC074820;BC074872;BC089436;CH471086;CN265862;DA461370;EF094938;L16895;M84150;M94054;NG_008722;NM_001178102;NM_002317;S45875;S78694 AAA16870;AAA59525;AAA59541;AAB21243;AAB23549;AAD02130;AAD10703;AAH74820;AAH74872;AAH89436;AAK58603;ABO15004;BAF98764;BAG35200;BAG60066;BAG60920;BAH14680;EAW48898;NP_001171573;NP_002308;P28300 Hs.102267 1339332;1644048;1742691;1743201;1760253;1767803;1774473;2108207;2119335;2143600;5017945;7186489 D5S2411;D5S467;GDB:201801;GDB:294218;LOX_8440;MARC_64269-64270:1182200887:1;RH47835;RH66702;RH68325;SHGC-132561;SHGC-35935 MGC105112 OTTHUMP00000159161;protein-lysine 6-oxidase APPROVED protein-coding ENSG00000113083 6664 01087 153455 REVIEWED 1343679 LPA lipoprotein, Lp(a) The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009] 6 6 q26 160872505 161007397 - 160952515 161087407 - 1580863;5509899;5509903;5509904;5509909;5509912;5509908;5509910;5509894;5509891;5509897;5509915;5509916;5509091;5509907;5509911;5509914;6480464;7240710 22056596;21484527;20303190;16643992;20124324;14656611;21523363;12894903;15211075;1440702;10764684;7702412;18775538;9736419;20026018;15748240 21127300;21986921;22422337;21078622;20705065;21149283;18660489;18622136;18599799;18594118;18582452;18560444;18513389;18479303;18464913;18386550;18280807;18198982;18163888;18086931;17975119;17942087;17923276;17908332;17845920;17683612;17603063;17569884;17537433;17478739;17462619;17460176;17145597;16893192;16840570;9269765;8047165;9548923;14718574;19509380;19479237;19349573;19335423;19263529;19233690;19222374;19208510;19198611;19131662;19124843;19023099;19014618;18983515;18848929;18806883;18776185;18682798;18682748;16625232;16497311;16403785;16202171;16197951;16150826;16122830;16113787;16053196;15983325;15905467;15708348;15654123;15543335;15523644;15515480;15479125;15258620;15041277;14746139;12940514;12738397;12578871;12562843;12482643;12359323;12220441;12127051;12111551;12082592;11999088;11947970;11865151;11833851;11822583;11816712;11485023;11440434;11332648;11294842;11285247;11126727;10980194;10672142;10484779;10187779;10073957;9717723;9111002;8864963;8642595;7918682;3670400;3410459;2531657;2530631;20593350;20197188;18304554;19348789;19496273;19545557;19564206;19572086;19636317;19642912;19646429;19672030;19808717;19880117;19948975;20014954;20032323;20036902;20160194;20379614;20452482;20106478;20444451;20971364;19913121;20601648;20605575;20628086;20673868;20679960;20580413;21086792;21300353;20129380;20129381;20129382;20129383;21378990;20691971;21252144;21493818;20143106;22633661;23388002;23036009;22748161;21179199;21153771;21231777;21283670;22387060;22762941;21473861;21519277;21907882;21592478;21404224;21970553;21802535;23165148;22010162;21914962;21749171;22207727;20686565;21900290;22192511;22331829;22368281;22516069;22327610;22485129;22134617;22283971;23137279;23243000;23183511;22407494;21914687;23040268;23099120;23375930;23118302;23202367;9925657;22753196 4018 P08519;Q9UKJ7 ABBA01015158;ABBA01021051;ABBA01021052;ABBA01021053;ABBA01021054;AF158656;AF158657;AF158661;AF158663;AL109933;AL596089;AMYH01016808;AMYH01016809;AMYH01016810;AMYH01016811;AMYH01016812;AMYH01016813;AMYH01016814;AMYH01016815;AMYH01016816;AMYH01016817;AMYH01016818;AMYH01016819;AMYH01016820;AY039748;CH471051;DQ452068;NG_016147;NM_005577;X06290 AAF03676;AAF03677;AAF03679;AAF03680;AAK74187;ABF47086;CAA29618;EAW47596;NP_005568;P08519 Hs.520120 1338682;1658657;1704326;1745139;2107277;2145080;2154859 D6S1423;D6S1579;D6S1951;GDB:595276;LPAL2__6413;SHGC-83306;STS-X06290 AK38;APOA;LP OTTHUMP00000017543;antiangiogenic AK38 protein;apo(a);apolipoprotein(a);lp(a) APPROVED protein-coding ENSG00000198670 6667 01063 152200 REVIEWED 1322239 LOXL3 lysyl oxidase-like 3 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 p13 74613454 74634570 - 74759946 74781062 - 1580863;6480464 11284725;19015874;17287949;17018530;16096638;12686136;12477932;11642359;11386757;11334717;16169070;19724858;21740577 84695 B8ZZT6;B9A025;C9J5M1;E7END4;H7C248;P58215;Q6IPL7 ABBA01075602;AC005033;AC005041;AF282619;AF284815;AF311313;AK309474;AK309478;AMYH01010454;BC033130;BC071865;CH471053;DQ378059;NG_033047;NM_032603 AAH33130;AAH71865;AAK51671;AAK63205;AAK91134;AAX93223;ABD23013;EAW99615;EAW99616;NP_115992;P58215 Hs.744198 1650052;1672990;1739293;1745961;1746039;1847028;2107273;2189399;5491918 A006U29;BCD2341;D2S1958E;LOXL3__6411;Loxl3;MARC_4349-4350:991938479:1;RH124140;RH125632;RH15974 LOXL OTTHUMP00000160411;OTTHUMP00000202708;OTTHUMP00000202709;OTTHUMP00000202710;lysyl oxidase homolog 3;lysyl oxidase-like protein 3 APPROVED protein-coding ENSG00000115318 13869 06200 607163 REVIEWED 1318705 LOXL1 lysyl oxidase-like 1 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] 15 15 q22 72005842 72031531 + 74218789 74244478 + 1580863;6480464;7240710 7689553;19373106;19343041;19240540;19182211;19112534;19098994;18974306;18958304;18806885;18648524;18636115;18618003;18552979;18541854;18483563;18450598;18421074;18385788;18385063;18334947;18334928;18332326;18282488;18254956;18223248;18201684;18037624;18036875;17999374;17891191;17690546;17690259;17287949;16842595;16251195;15489334;15086544;14550642;12686136;12577300;12477932;11642359;10773658;7706256;14745449;18287813;20613779;19450918;19503743;19584346;19664108;19724858;19763368;19936304;20051886;20142848;20379614;20431720;20436359;21236409;21272281;20940247;21139690;21197115;21740577;21212179;21320968;22605916;21784201;22906264;21559813;21674292;22194657;21948647;21738402;21855673;21190048;22128228;21970694;22328822;20881960;21145461;21510775;23275563;23288989;23494965;22633114;23196386;22911823 4016 H3BUV8;Q08397 ABBA01038704;ABBA01038705;AC108137;AK303982;AK314222;AL529650;AMYH01006780;BC015090;BC068542;L21186;NG_011466;NM_005576;U24389 AAA50162;AAA68940;AAH15090;AAH68542;ABM84257;BAG36895;BAG64900;NP_005567;Q08397 Hs.65436 1341809;1658957;1679968;1721603;1752671 D15S818;G59811;RH80820;SHGC-106501;WI-18919 LOL;LOXL OTTHUMP00000174929;lysyl oxidase homolog 1;lysyl oxidase-like protein 1 APPROVED protein-coding ENSG00000129038 6665 08861 153456;177650 REVIEWED 1601956 LPAL2 lipoprotein, Lp(a)-like 2, pseudogene Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 6 6 6 q26-q27 161539060 161583620 - 160807831 160852146 - 160887587 160932156 - 6480464 19198611;16344560;12477932;7749817;7679504;2268308;1554698;1454851;21493818;23036009;21900290 80350 Q16609 ABBA01021054;AK125910;AL591069;AMYH01016808;BC110570;CH471051;DB312928;L07899;M62890;M86877;M86878;M90078;M90079;NR_028092;NR_028093;U19517;U19518 AAA35546;AAA35547;AAA36454;AAA51749;AAA85692;AAA85693;AAB49909;AAB66587;AAI66644;EAW47597;EAW47598;Q16609 Hs.654503 2107277 LPAL2__6413 APOA2;APOAL;APOARGC;MGC129532;RP11-72O9.2 APPROVED pseudo ENSG00000213071 21210 17441 611682 VALIDATED 1318201 LOXL2 lysyl oxidase-like 2 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] 8 8 p21.3 23210355 23317667 - 23154410 23261722 - 1580863;6480464 9079631;19015874;18590575;18559498;17287949;16096638;16023247;15489334;14702039;12820424;12686136;12670920;12477932;11642359;11162352;10212285;9722957;8125298;21519871;20439985;19383344;19394199;19625348;19724858;20012301;20026874;20043065;20802105;21233336;20306300;23030485;21732535;21740577;21835952;22483618;22204712;17170699;23319596;23494965;22739041 4017 E5RFE2;E5RFY0;E5RHH3;E5RI22;E5RJL2;H0YAP6;H0YAR1;Q9Y4K0;R4GMS2 ABBA01005540;ABBA01005541;ABBA01005542;AC090197;AC104561;AF117949;AK098436;AK124508;AK222477;AK293292;AK312266;AMYH01018573;AMYH01018574;BC000594;BC020481;CH471080;NM_002318;U89942 AAB49697;AAD34343;AAH00594;ABM83611;ABM86855;BAD96197;BAG35197;BAG56815;EAW63625;EAW63626;EAW63627;NP_002309;Q9Y4K0 Hs.626637 1336279;1720507;1745961;1761717;1762239;2110489;2119658 D16S3138;G59207;LOXL2__6410;RH124140;SHGC-145691;SHGC-146104;STS-U89942 LOR2;WS9-14 OTTHUMP00000224942;lysyl oxidase homolog 2;lysyl oxidase related 2;lysyl oxidase-like protein 2;lysyl oxidase-related protein 2;lysyl oxidase-related protein WS9-14 APPROVED protein-coding ENSG00000134013 6666 09446 606663 REVIEWED 1318447 LOXL4 lysyl oxidase-like 4 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008] 10 10 q24 99997433 100017997 - 100007443 100028007 - 1580863;6480464 19015874;18949373;18586005;18202753;17671119;17287949;17081983;15489334;14702039;14551188;12894545;12686136;12477932;11691589;11691588;16189514;11292829;16385451;19060904;21115907;21740577;21163940;22806361;21733505;21139048 84171 Q96JB6 ABBA01021781;AF338441;AF395336;AK025542;AK172781;AL139241;AMYH01002982;AY036093;BC007522;BC013153;BC015656;BC035470;CH471066;NM_032211;W44920 AAH07522;AAH13153;AAK64186;AAK71934;AAL27543;ABM81993;ABM85175;BAB15167;BAD18762;EAW49886;NP_115587;Q96JB6 Hs.306814;Hs.671890 1685574;1745167;1745961;1782062 GDB:595852;RH124140;RH44848;SHGC-153475 FLJ21889;LOXC OTTHUMP00000020243;lysyl oxidase homolog 4;lysyl oxidase related C;lysyl oxidase-like 4 pseudogene;lysyl oxidase-like protein 4;lysyl oxidase-related protein C APPROVED protein-coding ENSG00000138131 17171 09538 607318 REVIEWED 731581 LPAR1 lysophosphatidic acid receptor 1 The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008] 9 9 q31.3 112675875 112840186 - 113636054 113800365 - 1580863;1626474;1626471;2317680;2317696;6480464 16242672;16504475;19000703;17026968 9069262;21234797;8922387;9804623;12761501;9070858;19420982;19306925;19081821;19025891;18754873;18703779;18627789;18625619;18617617;18325907;18089805;18089565;18006645;17923111;17531530;17496233;16809448;16716145;16263766;15755723;15489334;15292052;15208267;14702039;14696401;14688263;12670925;12668728;12477932;12393875;12123830;11948806;11093753;9893266;9600933;19913121;20628086;20659327;18577758;19853236;19860625;19899077;16754659;20708100;21116120;21971049;21978933;22797060;22021336;20881960;22659570;21988832;23291589 1902 B1AP63;B4DK36;B4DQ18;Q5VZX0;Q92633 ABBA01042740;ABBA01042741;ABBA01042742;ABBA01042743;AC007157;AK022808;AK290287;AK296374;AK298590;AK299279;AL157881;AL442064;AMYH01021638;AY322546;BC030615;BC036034;BC073167;BI461641;CH471105;NM_001401;NM_057159;U78192;U80811;Y09479 AAC00530;AAC51139;AAH30615;AAH36034;AAH73167;AAP84359;BAF82976;BAG51118;BAG59048;BAG60780;BAG61296;CAA70686;CAA70687;EAW59068;EAW59069;NP_001392;NP_476500;Q92633 Hs.126667 1646637;1687954;1700268;1770203;1787172;2119221;2122455;2133402;2136426;2147999;2187619;2217284 AFM317zf1;D9S1040E;EDG2_3612;G10384;G19228;RH103751;RH66299;RH91223;SHGC-172279;SHGC-37372;T03432;WI-17785 EDG2;GPR26;Gpcr26;LPA1;Mrec1.3;VZG1;edg-2;rec.1.3;vzg-1 LPA receptor 1;LPA-1;OTTHUMP00000021903;OTTHUMP00000021904;OTTHUMP00000021905;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2;lysophosphatidic acid receptor 1;lysophosphatidic acid receptor Edg-2;ventricular zone gene 1 APPROVED protein-coding ENSG00000198121 3166 03790 602282 REVIEWED 1312931 LPAR2 lysophosphatidic acid receptor 2 This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 19 19 p12 19595477 19600017 - 19734464 19739039 - 1580863;6480464 21234797;9525886;14688263;16203867;9804623;19116446;19081821;19025891;19001604;18754873;18703779;17965021;17765657;17496233;16904289;16344560;16341674;15755723;15728708;15535846;15489334;15143197;15057824;14702039;12759391;12668280;12477932;12123830;11093753;11024010;10954727;10922489;10818441;10729222;10537322;20890765;2834384;19293149;19306925;19860625;19899077;16754659;21134377;16147992;22359512;21964883;23084965;23275563 9170 K7EJJ9;K7ELJ6;K7ENG7;K7ER68;Q9HBW0 ABBA01051337;AC002306;AC011458;AF011466;AF197929;AF233092;AK123043;AK316573;AMYH01009610;AU133824;AY322548;BC025695;BM840024;CH471106;NM_004720 AAB61528;AAC27728;AAF43409;AAG28521;AAH25695;AAP84361;BAG38162;BAG53861;EAW84836;EAW84837;NP_004711;Q9HBW0 Hs.122575 5017809 EDG4 EDG-4;EDG4;FLJ93869;LPA-2;LPA2 G protein-coupled receptor;LPA receptor 2;LPA receptor EDG4;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4;lysophosphatidic acid receptor 2;lysophosphatidic acid receptor EDG4;lysophosphatidic acid receptor Edg-4 APPROVED protein-coding ENSG00000064547 3168 605110 REVIEWED 3563725 LPCAT2BP lysophosphatidylcholine acyltransferase 2b, pseudogene 1 1 1 p22.1 90778456 90779769 + 92304376 92310218 + 92532017 92533330 + 6480464 20210993 100128094 ABBA01045554;AC104836;AMYH01000794;NG_022792 pseudo 38003 INFERRED 1348840 LPAR5 lysophosphatidic acid receptor 5 This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008] 12 12 p13.31 6598262 6615548 - 6728001 6745297 - 1580863 18499677;17920662;16774927;16651401;15489334;12477932;12044878;11574155;11062477;21464938;20069565;19366702;19860625;21832242 57121 Q5KU18;Q9H1C0 AB041943;AB083600;ABBA01017648;ABBA01017649;ABBA01017650;AC135892;AF411112;AJ272207;AK313127;AMYH01004205;BC033571;BC072394;CH471116;CQ859776;DC328599;DC329320;HQ995529;NM_001142961;NM_020400 AAH33571;AAH72394;AAL26483;ABM83823;ABM87144;ADZ31974;BAB89313;BAD83597;BAG35947;CAC03715;CAH25938;EAW88775;EAW88776;NP_001136433;NP_065133;Q9H1C0 Hs.155538 1848712 SHGC-31323 GPR92;GPR93;KPG_010;LPA5 G protein-coupled receptor 92;G-protein coupled receptor 92;G-protein coupled receptor 93;LPA receptor 5;LPA-5;OTTHUMP00000239241;lysophosphatidic acid receptor 5 APPROVED protein-coding ENSG00000184574 13307 09495 606926 REVIEWED 1323219 LPAR3 lysophosphatidic acid receptor 3 This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008] 1 1 p22.3 85052090 85104430 - 85279086 85358896 - 1580914;1580863;1626471;1626474;6480464 15258894;16504475;16242672 19001604;10488122;19420982;19081821;19025891;18840781;18627789;18006645;17923111;15489334;15292052;12884281;12668280;12623301;12477932;12123830;11982483;11093753;10891327;10727522;18029348;19860625;19899077;16754659;22872026;2834384;21116120;21832049;22763559;22922883;22314276;23167620;22566634;21964883;23064961;23118302 23566 Q9NRB8;Q9UBY5 ABBA01045648;ABBA01045649;AC104169;AF127138;AF186380;AF236117;AK308283;AL139150;AMYH01000752;AY322547;BC126268;BC126270;BC144021;BU633960;CH471097;JB028787;NM_012152 AAD56311;AAF00530;AAF91291;AAI26269;AAI26271;AAP84360;CCV20023;EAW73222;NP_036284;Q9UBY5 Hs.674915 1791920;2107027;2113560;2151938 AL009531;EDG7_7284;MARC_49104-49105:1117559838:1;PMC133668P2 EDG7;Edg-7;FLJ98231;GPCR;HOFNH30;LP-A3;LPA3;RP4-678I3 LPA receptor 3;LPA receptor EDG7;LPA-3;OTTHUMP00000011573;calcium-mobilizing lysophosphatidic acid receptor LP-A3;endothelial cell differentiation gene 7;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7;lysophosphatidic acid receptor 3;lysophosphatidic acid receptor Edg-7 APPROVED protein-coding ENSG00000171517 14298 05486 605106 REVIEWED 1350247 LPAR4 lysophosphatidic acid receptor 4 This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009] X X X q21.1 78243611 78252993 + 77896957 77899249 + 78003206 78012588 + 1580863;6480464 9073069;16344560;16335952;15772651;15489334;12724320;12477932;11004484;9223435;8889548;18240029;19860625;16754659;20069565;20890765;16147992 2846 Q99677 AA424772;ABBA01030136;AF005419;AK314134;AL590083;AMYH01022638;AY301274;BC069996;BC074722;BC095538;BM973092;BX100826;CH471104;DA735126;NG_013242;NM_005296;U66578;U90322;U90323 AAB62087;AAB62088;AAB66322;AAC51301;AAH69996;AAH74722;AAH95538;AAP58404;BAG36824;EAW98596;NP_005287;Q99677 Hs.522701 1662316;1787342;1797622;2156268;5093220;5492655 A009J36;G32591;GPR23_2259;RH71250;SHGC-155049;UniSTS:481918 GPR23;LPA4;P2RY9;P2Y5-LIKE;P2Y9 G-protein coupled receptor 23;LPA receptor 4;LPA-4;P2Y purinoceptor 9;P2Y5-like receptor;lysophosphatidic acid receptor 4;purinergic receptor 9 APPROVED protein-coding ENSG00000147145 4478 02099 300086 REVIEWED 1348408 LPGAT1P1 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 8 8 p12 30960514 30972106 - 30840975 30841837 - 100129398;404667 ABBA01023647;AC008066;AMYH01018621;NG_022384 1706878;2112034 D8S2158;SHGC-80925 FAM34A2P;FAM34BP pseudo 31402 INFERRED 1351682 LPGP1 lipogenic protein 1 4021 6675 1349646 LPAR6 lysophosphatidic acid receptor 6 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 13 13 q14 47883182 47887947 - 48985181 49018840 - 1580863;6480464;7240710 18297070;19386608;19292720;19061667;18830268;18803659;18692127;18461368;18297072;15582581;15489334;15057823;14702039;12477932;11004484;10737800;9755289;9240460;8889552;8125298;7902321;22621192;21048031;18577758;16754659;18240029;19529952;22531990;21426374;22318606;23084965 10161 B3KVQ5;F2YGU4;Q7Z3S6 ABBA01051006;AF000546;AF551763;AK122856;AK123059;AK223389;AL136960;AL392048;AMYH01005101;BC039373;BC040850;BC045651;BC054346;BC070295;BC106756;BF950635;BF951153;BQ006077;BX537392;BX537438;BX537445;BX647109;CH471075;HQ995530;JF810890;L78805;NG_009009;NG_012874;NM_001162497;NM_001162498;NM_005767 AAB62190;AAH40850;AAH45651;AAH70295;AAI06757;AAL40065;AAN64134;ACE86673;ACE87357;ADZ31975;AEP43757;BAD97109;BAG53764;BAG53867;CAD97634;CAD97680;CAD97687;EAX08796;EAX08797;NP_001155969;NP_001155970;NP_005758;P43657 Hs.123464 1654934;5493151 RH17879;UniSTS:484469 ARWH1;LAH3;MGC120358;P2RY5;P2Y5 G-protein coupled purinergic receptor P2Y5;LPA receptor 6;LPA-6;OTTHUMP00000018396;OTTHUMP00000178634;P2Y purinoceptor 5;RB intron encoded G-protein coupled receptor;lysophosphatidic acid receptor 6;oleoyl-L-alpha-lysophosphatidic acid receptor;purinergic receptor 5;purinergic receptor P2Y G protein-coupled protein 5;purinergic receptor P2Y, G-protein coupled, 5 APPROVED protein-coding ENSG00000139679 15520 16465 278150;609239 REVIEWED 1602676 LPCAT1 lysophosphatidylcholine acyltransferase 1 Lysophosphatidylcholine (LPC) acyltransferase (LPCAT; EC 2.3.1.23) catalyzes the conversion of LPC to phosphatidylcholine (PC) in the remodeling pathway of PC biosynthesis (Nakanishi et al., 2006 [PubMed 16704971]).[supplied by OMIM, May 2008] 5 5 5 p15.33 1499585 1562101 - 1514542 1577076 - 1461542 1524076 - 6480464;6907045 18974965;18156367;16704971;15489334;14702039;12693554;12477932;9110174;8619474;19383981;20407208;18029348;16449650;21498505;22939629;22990118;19322201;21726808;21139048;22101258;21857022 79888 Q8NF37 AB244719;ABBA01034202;ABBA01034203;AC026748;AC091849;AF052162;AF530061;AK022499;AK022505;AK090444;AK095552;AK123603;AL831864;AMYH01014858;AMYH01014859;BC002543;BC020166;BQ961819;BU539058;CH471102;NM_024830 AAH20166;AAI40368;AAQ09945;BAB14061;BAB14065;BAC03425;BAE94688;CAD38556;EAX08154;EAX08155;EAX08156;NP_079106;Q8NF37 Hs.368853 1646795;1735518;1740475;1785444;2169363 A003B27;D5S1652E;D5S2269E;NIB2003;SHGC-145778 AYTL2;FLJ12443;FLJ41609;PFAAP3;lpcat 1-acylglycerophosphocholine O-acyltransferase;1-alkylglycerophosphocholine O-acetyltransferase;LPC acyltransferase 1;LPCAT-1;OTTHUMP00000190886;OTTHUMP00000220660;acetyl-CoA:lyso-PAF acetyltransferase;acetyl-CoA:lyso-platelet-activating factor acetyltransferase;acyl-CoA:lysophosphatidylcholine acyltransferase 1;acyltransferase like 2;acyltransferase-like 2;lyso-PAF acetyltransferase;lysoPAFAT;lysoPC acyltransferase 1;lysophosphatidylcholine acyltransferase 1;phosphonoformate immuno-associated protein 3;regulated by phosphonoformate APPROVED protein-coding ENSG00000153395 25718 08572 610472 VALIDATED 1606279 LPCAT2 lysophosphatidylcholine acyltransferase 2 This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009] 16 16 16 q12.2 40057142 40134813 + 54100455 54174655 + 55542913 55620582 + 6480464;6907045 17182612;15489334;14702039;12477932;20363836;18029348;20379614;19913121;20628086;21048031;21498505;21890473;21906983;21565611;21963094;23408906 54947 H3BU68;Q7L5N7 AB244718;ABBA01066525;AC007336;AC026802;AI915099;AK000488;AK023271;AK308386;AMYH01007681;AW366682;BC002472;BC005981;BG772279;BX641069;CH471092;JA738663;NM_017839 AAH02472;ACE86445;ACE87121;BAA91199;BAF47696;CAE46034;CCF76984;EAW82829;NP_060309;Q7L5N7 Hs.460857 1678895;1724351;1736538;5118444 D11S3316;D16S2539E;RH119098;RH94125 AYTL1;DKFZp686H22112;FLJ20481;LysoPAFAT 1-acylglycerophosphocholine O-acyltransferase;1-alkylglycerophosphocholine O-acetyltransferase;LPC acyltransferase 2;LPCAT-2;OTTHUMP00000164315;acetyl-CoA:lyso-PAF acetyltransferase;acetyl-CoA:lyso-platelet-activating factor acetyltransferase;acyl-CoA:lysophosphatidylcholine acyltransferase 2;acyltransferase like 1;acyltransferase-like 1;lyso-PAF acetyltransferase;lyso-platelet-activating factor (PAF) acetyltransferase;lysoPC acyltransferase 2;lysophosphatidylcholine acyltransferase 2 APPROVED protein-coding ENSG00000087253 26032 07913 612040 REVIEWED 1604192 LPCAT4 lysophosphatidylcholine acyltransferase 4 Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008] 15 15 15 q14 11456123 11464429 - 32438381 32446687 - 34651089 34659395 - 6480464;6907045 18458083;16243729;15489334;14702039;12477932;9110174;8619474;7566098;21906983;19322201 254531 H3BMK4;Q643R3 ABBA01038535;AC025678;AF007155;AF529233;AF542964;AK001119;AK290273;AK308910;AL832237;AMYH01006512;AY734233;BC024892;BC028209;BC048430;BC092463;BC144236;CH471125;NM_153613;T29943 AAC19156;AAH24892;AAH92463;AAI44237;AAN33178;AAP97722;AAU34184;BAF82962;EAW92306;EAW92307;EAW92308;NP_705841;Q643R3 Hs.352614 1698728 RH102924 AGPAT7;AYTL3;FLJ10257;LPAAT-eta;LPEAT2 1-AGP acyltransferase 7;1-AGPAT 7;1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta);PLSC domain containing protein;acyl-CoA:lysophosphatidylethanolamine acyltransferase 2;acyltransferase like 3;acyltransferase-like 3;lysophosphatidylethanolamine acyltransferase 2;lysophospholipid acyltransferase LPCAT4;plasmalogen synthase APPROVED protein-coding ENSG00000176454 30059 08315 612039 VALIDATED 1353817 LPGAT1 lysophosphatidylglycerol acyltransferase 1 Acyl-CoA:lysophosphatidylglycerol (LPG) acyltransferase catalyzes the reacylation of LPG to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin (Yang et al., 2004 [PubMed 15485873]).[supplied by OMIM, Mar 2008] 1 1 1 q32 185143875 185229750 - 209984952 210070737 - 211916799 212004114 - 1580863;6480464;6907045 10942595;15489334;15485873;12477932;9637538;9039502;17207965;21903422;21890473;21906983;19322201;23362303 9926 Q53YL2;Q92604 ABBA01048187;AC096637;AI264005;AL445488;AMYH01001701;AY561706;BC034621;CH471100;D86960;NM_014873 AAH34621;AAS66979;ADQ32322;BAA13196;EAW93407;EAW93408;NP_055688;Q92604 Hs.744851 1673732;1694616;2161418;2163772;2170681;2170683;5037552;5123907 A005L30;D8S2279;G20313;G43326;RH78177;SHGC-76298;SHGC-76302;SHGC-76307 FAM34A;FAM34A1;NET8 OTTHUMP00000035214;OTTHUMP00000035215;acyl-CoA:lysophosphatidylglycerol acyltransferase 1;family with sequence similarity 34, member A APPROVED protein-coding ENSG00000123684 28985 14304 610473 VALIDATED 1604396 LPCAT3 lysophosphatidylcholine acyltransferase 3 12 12 p13 6955608 6996103 - 7085347 7125842 - 6480464;6907045 18782225;18781350;18772128;18195019;16541075;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;10446276;9074930;8723724;20837115;19351971;20018618;21139048;21890473;21906983;23580142 10162 B7Z3N5;F5GYT3;F5H0M4;F5H680;F5H7K7;Q6P1A2 ABBA01017670;ABBA01017671;AC006512;AK058063;AK096775;AK296145;AK296164;AK296171;AK311727;AK315538;AMYH01004212;AU125262;BC000664;BC065194;BT007000;BX647983;BX648009;CH471116;NM_005768;U47924;U72515 AAB51326;AAC51640;AAH00664;AAH65194;AAP35646;BAG37917;BAH12269;BAH12270;BAH12271;CAL38149;EAW88691;EAW88692;EAW88693;NP_005759;Q6P1A2 Hs.655248 1653654;1658902;1665352;1680305;2144626;2147127;2219042;5024756;5094020 C3F__4486;D12S1206E;G33059;RH11325;RH26657;RH44811;RH47084;RH80030;SHGC-33346 C3F;LPCAT;LPLAT 5;LPSAT;MBOAT5;OACT5;nessy 1-acylglycerophosphocholine O-acyltransferase;1-acylglycerophosphoserine O-acyltransferase;O-acyltransferase (membrane bound) domain containing 5;O-acyltransferase domain-containing protein 5;OTTHUMP00000239848;OTTHUMP00000239849;lyso-PC acyltransferase 3;lyso-PS acyltransferase;lysophosphatidylserine acyltransferase;lysophospholipid acyltransferase 5;membrane bound O-acyltransferase domain containing 5;membrane-bound O-acyltransferase domain-containing protein 5;putative protein similar to nessy protein-coding ENSG00000111684 30244 12816 611950 VALIDATED 732054 LPHN2 latrophilin 2 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. While several transcript variants have been described, the biological validity of only one has been determined. [provided by RefSeq, Jul 2008] 1 1 1 p31.1 80498753 80690763 + 82038670 82230695 + 82266082 82458107 + 1580863;6480464 15203201;10030676;17456239;16710414;15066411;11520923;10964907;10760572;9872452;8889548;10994649;12477932;17903293;21139048;22318606;22832960;21988832;23251661 23266 B1ALU1;B1ALU3;B1ALU6;H0Y3V3;H0Y5C0 AB018329;ABBA01074352;AC113949;AF104266;AF104938;AF104939;AJ131581;AJ242517;AJ242518;AJ244492;AJ244493;AJ244494;AJ244495;AJ244496;AJ244497;AJ244498;AJ244499;AJ244500;AJ244501;AJ244502;AJ244503;AJ244504;AJ244505;AJ244506;AJ244507;AJ244508;AJ244509;AJ244510;AJ244511;AJ244512;AJ244513;AJ244514;AJ244515;AJ244516;AK123422;AL157903;AL358939;AL359705;AMYH01000742;BC031321;BM983870;CH471059;DQ925675;NM_012302 AAD54675;AAD54676;AAD54677;ABL59902;BAA34506;BAG53903;CAA10458;CAB60201;CAB60202;CAB60203;CAB60204;CAB60205;CAB60206;CAB60207;CAB60229;EAX06321;EAX06322;EAX06323;EAX06324;EAX06325;EAX06326;EAX06327;EAX06328;EAX06329;EAX06330;EAX06331;EAX06332;EAX06333;EAX06334;EAX06335;EAX06336;EAX06337;EAX06338;EAX06339;EAX06340;EAX06341;NP_036434;O95490 Hs.24212;Hs.649282 1335117;1664347;1673133;1692482;1693124;1740743;1751433;1776443;2140827;2142976;2160858;2186138;2191057;5094888;5120946 AL009673;AL010037;AL010067;AL033892;AL034278;D1S2856;D1S3237;LPHN2;MARC_13861-13862:1007063395:1;RH46315;SHGC-105258;SHGC-36772;SHGC-75052;SHGC-75058;WI-11936 CIRL2;CL2;LEC1;LPHH1 CIRL-2;OTTHUMP00000011441;OTTHUMP00000011442;OTTHUMP00000011443;OTTHUMP00000011444;OTTHUMP00000011445;OTTHUMP00000011447;OTTHUMP00000011448;OTTHUMP00000011449;OTTHUMP00000011450;OTTHUMP00000011451;OTTHUMP00000011452;calcium-independent alpha-latrotoxin receptor 2;latrophilin 1;latrophilin homolog 1;latrophilin homolog 2 (cow);latrophilin-2;lectomedin-1 APPROVED protein-coding ENSG00000117114 18582 06116 607018 REVIEWED 733163 LPHN1 latrophilin 1 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] 19 19 19 p13.2 14152822 14211284 - 14119549 14177997 - 14258549 14316997 - 1580863;2314400;6480464 12225880 15489334;15203201;15144186;15066411;14702039;12477932;11520923;10994649;10964907;10048485;10958799;20936779;20400778;20971062;21078624;21906983;19322201 22859 K7EK47;K7ERC3;K7ESH3;O94910 AB020628;AB065919;ABBA01029684;ABBA01029685;ABBA01029686;ABBA01029687;ABBA01029688;AC011509;AC022098;AF307079;AK022001;AMYH01009521;AMYH01009522;BC002974;BC007587;BC013275;BC019928;BC028296;BC052627;BC072445;BC090949;CH471106;NM_001008701;NM_014921 AAG27461;AAH02974;AAH07587;AAH28296;AAI68378;BAA74844;BAB13950;BAC06134;EAW84404;EAW84405;EAW84406;EAW84407;EAW84408;EAW84409;NP_001008701;NP_055736;O94910 Hs.94229 1648815;1685045;1734718;2109475;2120776;5111967;5491282 A003B10;D19S706E;G43524;LPHN1__6414;RH15904;RH71187;Vsx1 CIRL1;CL1;LEC2 CIRL-1;calcium-independent alpha-latrotoxin receptor 1;cl1ba protein;latrophilin-1;lectomedin-2 APPROVED protein-coding 20973 14305 REVIEWED 1353351 LPHN3 latrophilin 3 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008] 4 4 q13.1 62045434 62620763 + 62362839 62938168 + 2314400;6480464 12225880 9872452;10994649;15203201;15066411;14702039;12477932;11520923;10964907;9847074;7937745;21184580;20677014;20522523;21107309;19043545;19260141;20157310;20379614;21040458;22105624;21432600;22405201;23317273;22575564;22832519;23000965;22486528;21606926 23284 E7EMR3;E7EN28;E7ENK1;E7ES20;E7ESV6;E7ETE3;E7EUP0;E7EUW2;E7EVD6;E7EW95;E7EX52;E9PBG4;E9PE04;H0Y9K5;Q9HAR2 AB018311;ABBA01022830;ABBA01022831;ABBA01022832;ABBA01022833;ABBA01022834;ABBA01022835;ABBA01022836;AC007511;AC020741;AC092663;AC092668;AC096723;AC104813;AC108161;AC225889;AK000781;AK094703;AK294689;AK299651;AK309793;AMYH01014221;AMYH01014222;AMYH01014223;AMYH01014224;AMYH01014225;BC039452;CH471057;NM_015236 AAY40992;BAA34488;BAA91375;BAH11848;BAH13089;EAX05525;EAX05526;EAX05527;EAX05528;EAX05529;EAX05530;NP_056051;Q9HAR2 Hs.28391;Hs.570770 1298324;1336129;1644674;1657684;1663910;1668085;1673653;1680753;1705650;1719245;1727787;1730125;1735392;1753555;1761295;1767317;1778506;1855691;2014492;2109477;2118941;2133236;2135202;2140993;2141732;2144849;2149954;2150850;2151711;2155484;2161815;2164205;2166023;2173748;2179143;7183402;7186325 1754;A004G27;D20S1010;D4S1017;D4S1600;D4S2559E;D4S2778E;D4S3085;D4S399;D4S472;D4S528;D4S586;G01805;G09520;G16255;G63159;HUMXT00114;LPHN3_9332;REN78185;RH123343;RH36109;SHGC-107457;SHGC-14245;SHGC-145295;SHGC-32352;SHGC-34181;SHGC-50484;SHGC-51538;SHGC-59823;SHGC-59839;SHGC-63452;SHGC-83398;SHGC4-1183;WI-14844;WI-21794 CIRL3;LEC3 CIRL-3;OTTHUMP00000218740;OTTHUMP00000218742;OTTHUMP00000218743;OTTHUMP00000218744;OTTHUMP00000218745;OTTHUMP00000218746;OTTHUMP00000218747;OTTHUMP00000218748;OTTHUMP00000218749;OTTHUMP00000218750;OTTHUMP00000218751;OTTHUMP00000218752;OTTHUMP00000218753;OTTHUMP00000218754;calcium-independent alpha-latrotoxin receptor 3;latrophilin homolog 3 (cow);latrophilin-3;lectomedin 3 APPROVED protein-coding ENSG00000150471 20974 10055 REVIEWED 6481386 LPP-AS1 LPP antisense RNA 1 100873917 AC063932 APPROVED miscrna 40346 1342644 LPIN3 lipin 3 Humans lipodystrophy is characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mice carrying mutations in the fatty liver dystrophy (fld) gene have similar phenotypes. Through positional cloning, the mouse gene responsible for fatty liver dystrophy was isolated and designated Lpin1. The nuclear protein encoded by Lpin1 was named lipin. Lpin1 mRNA was expressed at high levels in adipose tissue and was induced during differentiation of preadipocytes. These results indicated that lipin is required for normal adipose tissue development and provided a candidate gene for human lipodystrophy. Through database searches, mouse and human EST and genomic sequences with similarities to Lpin1 were identified. These included two related mouse genes (Lpin2 and Lpin3) and three human homologs (LPIN1, LPIN2, and LPIN3). Human LPIN1 gene has been mapped to 2p25.; linkages of fat mass and serum leptin levels to this same region have been noted. Human LPIN2 and LPIN3 mapped to chromosomes 18p11 and 20q11-q12, respectively. The mouse genes encoding Lpin1, Lpin2, and Lpin3 mapped to chromosome 12, 17, and 2, respectively. [provided by RefSeq, Jul 2008] 20 20 20 q12 36680226 36699888 + 39402974 39422636 + 39969560 39989222 + 1580863;6480464 11780052;11138012;10884287;12477932;20735359;22481384 64900 H0Y5E1;Q9BQK8 ABBA01052576;ABBA01052577;AL031667;AL132654;AMYH01011913;BC140806;BC144598;BX505800;BX647082;BX648609;CH471077;NM_022896 AAI40807;EAW75985;EAW75986;NP_075047;Q9BQK8 Hs.25897 1336808;2117483;2118468;2183657;2191441 D6S1604;MARC_23321-23322:1024689677:5;RH69661;SHGC-34161;STS-R52161 LIPN3L;SMP2;dJ450M14.2;dJ450M14.3;dJ620E11.2 OTTHUMP00000031711;lipin 3-like;lipin-3;lipin-3-like;phosphatidate phosphatase LPIN3 APPROVED protein-coding ENSG00000132793 14451 605520 VALIDATED 1312114 LPIN2 lipin 2 Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008] 18 18 p11.31 2906992 3001945 - 2916992 3011945 - 1580863;6480464;7240710 22334674;19136718;18694939;17804763;17081983;15994876;15862761;11138012;10884287;9039502;2722772;21490949;19717560;20032092;20379614;20735359;8944226;20301735;21139048;22321011;12477932;22481384;23087183 9663 J3KTK1;J3QQN0;Q92539 ABBA01049839;ABBA01049840;ABBA01049841;AMYH01008777;AP000919;AP005431;BC152448;BQ014306;CH471113;D87436;NG_007507;NM_014646 AAI52449;AAI60018;BAA13380;EAX01686;EAX01687;NP_055461;Q92539 Hs.132342 1667123;1671161;1689839;1698322;1710588;1722319;1846643;1854181;2108815;2132870;2138093;2141678;2162275;2164354;2186675 A006I48;A008A48;G29225;G60225;HSC1YH092;LPIN2_8975;RH102701;RH46193;RH8145;SHGC-82401;STS-R01450;STS-T69724;WI-15441;WIAF-1505;WIAF-2076 KIAA0249 OTTHUMP00000162242;lipin-2;phosphatidate phosphatase LPIN2 APPROVED protein-coding ENSG00000101577 14450 16114 605519;609628 REVIEWED 5144617 LPP-AS2 LPP antisense RNA 2 3 3 q27.3 186299475 186302359 - 187868994 187871876 - 12477932 339929 ABBA01058361;AC022498;AMYH01013749;BC042414;NG_016932;NR_036497 Hs.596639 APPROVED miscrna ENSG00000270959 27952 VALIDATED 1316957 LPIN1 lipin 1 This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012] 2 2 p25.1 11804191 11884986 + 11817705 11967535 + 1580863;1641826;1641822;6480464;7240710 14718385;17563064 11138012;18974842;18829900;18817903;18694939;18693052;18591397;18437145;18362392;18070763;17950103;17940119;17105729;17035674;17003347;16950137;16467296;16357106;15489334;14702039;12477932;12111372;11792863;10884287;10644441;8724849;22467849;21413788;20583302;20735359;19543209;19553673;19717560;19753306;20308432;20356931;20385772;20530740;20101248;8944226;21478406;20231281;21263402;21616074;22055193;21911493;21448847;21803291;21139048;22853689;16344560;22157924;15342556;22480698;23426360;22094256;22481384 23175 A8MU38;B4DET9;B4DGS4;B4DGZ6;C9IYP2;C9J278;E7ESE7;F5GY24;H7C3T1;Q14693 ABBA01015653;ABBA01015654;ABBA01015655;ABBA01015656;AC012456;AC106875;AF147446;AI379040;AK127039;AK290235;AK293787;AK294742;AK294853;AK302922;AK310450;AL357194;AMYH01010115;AMYH01010116;AMYH01010117;BC018071;BC030537;BI459149;BP192775;CH471053;CR749806;D80010;DB086946;DB153243;DC334711;HI573914;NG_012843;NM_001261427;NM_001261428;NM_001261429;NM_145693 AAH30537;AAY14695;ABM85602;BAA11505;BAF82924;BAG57200;BAG57885;BAG57957;BAH13844;CAH18666;CBX47446;EAX00918;EAX00919;EAX00920;NP_001248356;NP_001248357;NP_001248358;NP_663731;Q14693 Hs.467740;Hs.739141 1341431;1341704;1643737;1710670;1734794;1734940;1755779;1774120;1857205;2132286;2150160 D2S1566E;D2S1701E;D2S262;D2S2785;D2S328;RH25402;RH68248;RH70046;RH78739;SHGC-142622;SHGC-79603 DKFZp781P1796;KIAA0188;PAP1 OTTHUMP00000147624;OTTHUMP00000179151;OTTHUMP00000179153;lipin-1;phosphatidate phosphatase LPIN1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000134324 13345 09271 268200;605518 REVIEWED 1603210 LPPR1 lipid phosphate phosphatase-related protein type 1 This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 74304663 74601009 + 102830852 103127238 + 103791031 104087417 + 6480464 14750979;12730698;12477932;8125298;17207965 54886 Q8TBJ4 ABBA01042875;ABBA01042876;ABBA01042877;ABBA01042878;ABBA01042879;ABBA01042880;ABBA01042881;AK000307;AK225306;AK303718;AK303807;AK309115;AL161631;AL357935;AL359893;AMYH01021575;AMYH01021576;AMYH01021577;AMYH01021578;AY304515;AY337718;BC022465;BC029380;BI601921;BI914341;CA772610;CH471105;NM_017753;NM_207299 AAH22465;AAP72152;AAQ73539;ADQ31714;BAA91072;BAH14030;BAH14055;EAW58938;EAW58939;EAW58940;EAW58941;NP_060223;NP_997182;Q8TBJ4 Hs.382683 1643650;1644339;1669710;1704502;1723121;1725209;1751225;1756651;2109695;2111101;2162761;2164112;2166079;2176407;2176409;2185649 1638;A005N10;A008T08;D9S2013;D9S221E;G20345;NIB1507;PRG-_3_9840;RH118897;RH123745;SHGC-105095;SHGC-143704;SHGC-24321;SHGC-83014;STS-M78268;WI-13839 MGC26189;PRG-3;RP11-35N6.1 OTTHUMP00000021800;OTTHUMP00000021801;lipid phosphate phosphatase-related protein type 1;plasticity related gene 3;plasticity-related gene 3 protein APPROVED protein-coding ENSG00000148123 17906 REVIEWED 1320729 LPO lactoperoxidase This gene encodes an oxidoreductase secreted from salivary, mammary, and other mucosal glands that functions as a natural antibacterial agent. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 17 17 q23.1 53670847 53700878 + 56315787 56345879 + 1580863;6480464 8964511;19505917;19059195;16740002;16344560;15894800;15489334;15384204;12626341;12584448;12477932;10828600;10814547;10715594;9030719;2222811;19423540;20237496;20406964;20438785;21139048;23382691 4025 F5H386;H0Y3I2;J3KT11;J3QSD8;P22079 ABBA01041328;ABBA01041329;AC004687;AC005962;AF027971;AK131496;AK300653;AK303903;AK308378;AK310965;AMYH01008512;AY324876;BC107166;BC107167;BX487327;BX538344;BX648309;CH471109;DB230339;EF579964;M58151;NM_001160102;NM_006151;NR_027647;U39573 AAA63213;AAC50717;AAG38481;AAI07167;AAI07168;AAP72968;ABQ53140;BAG62341;BAG64833;CAD98107;EAW94474;EAW94475;NP_001153574;NP_006142;P22079 Hs.234742 1336134;1341644;1693446;1718563;2145426;2219906;5022651 D11S2921;D17S1161;D17S1290;G42386;LPO__6416;RH122485;STS-M58151 MGC129990;MGC129991;SPO lactoperoxidase;salivary peroxidase APPROVED protein-coding ENSG00000167419 6678 11825 150205 REVIEWED 1321494 LPP LIM domain containing preferred translocation partner in lipoma This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease related chromosomal translocations which result in the expression of chimeric proteins that may promote tumor growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 q28 189413415 190080135 + 187871663 188608460 + 1580863;6480464;6484113;7240710 11066083;19240061;19073967;18311140;17322171;16738319;16484626;16397143;16375854;16271958;16094384;15951569;15649318;15592455;15144186;12760907;12615977;12522270;12505264;12441356;12063392;11433529;11329013;22610502;22797727;10637295;9772904;8812423;7670494;16169070;20647273;12477932;12581855;14702039;16137684;18029348;19205907;19693089;19851299;20190752;20379614;20410501;20949626;22639458;21139048;19236753;22863883;22939629;19156129;19701494;22589738;22075330;20963938;19322201;22286099;22951725;23056290;23218918;23251661 4026 B7Z8W0;B7ZLW0;C9J1K7;C9J2R5;C9J3U9;C9J4E3;C9J5C8;C9JE51;C9JIY7;C9JT42;C9JUT4;C9JXK9;Q93052 A52566;A79998;AA813328;ABBA01058351;ABBA01058352;ABBA01058353;ABBA01058354;ABBA01058355;ABBA01058356;ABBA01058357;ABBA01058358;ABBA01058359;ABBA01058360;ABBA01058361;AC009319;AC022498;AC055711;AC063932;AC069226;AC069430;AC117507;AK055214;AK123506;AK302959;AK304035;AL833171;AMYH01013749;AMYH01013750;AMYH01013751;AMYH01013752;AMYH01013753;BC042960;BC130584;BC144076;BG192042;BX474180;BX641108;CH471052;CR457074;NG_016932;NM_001167671;NM_001167672;NM_005578;U29116;U49957;U49968 AAC50738;AAC50739;AAI30585;AAI44077;BAH13857;BAH14096;CAA03407;CAB59169;CAG33355;EAW78127;EAW78128;EAW78129;EAW78130;EAW78131;EAW78132;EAW78133;EAW78134;NP_001161143;NP_001161144;NP_005569;Q93052 Hs.720220 1335556;1336775;1342246;1660469;1673243;1679670;1696048;1700358;1705064;1705212;1705312;1708688;1710758;1717647;1735306;1739047;1753217;1755735;1761039;1771201;1848413;2108209;2121051;2134379;2161952;2178616;2179563;2180621;5014051;5016700;5020948;5022588;5022637;5037552;5095859;5096568;7185070 A004N18;D11S2766;D3S1580;D3S1761;D3S2943E;D3S2973;D3S3104;D3S3245;D3S3596;D3S3961;D3S4143;D5S1597E;D8S2278;D8S2279;G15841;G15999;G16600;G35510;LPP_8442;RH103799;RH122128;RH79802;RH93795;SHGC-110014;SHGC-13234;SHGC-142584;SHGC-144996;SHGC-77606;SHGC-77641;SHGC-78052;SHGC-78075;SHGC-78614;SHGC-81486;SHGC-83198;SHGC-84029;STS-T96174 DKFZp779O0231;FLJ30652;FLJ41512 LIM protein;OTTHUMP00000209793;lipoma-preferred partner APPROVED protein-coding ENSG00000145012 6679 02828 600700;601626 REVIEWED 1604322 LPPR2 lipid phosphate phosphatase-related protein type 2 19 19 19 p13.2 11360936 11371242 + 11327109 11337372 + 11466062 11476374 + 6480464 14750979;14702039;12477932;8125298;16344560 64748 Q69YU8;Q96GM1 ABBA01029860;AC024575;AK023117;AK094869;AK225482;AL353953;AMYH01009483;AY304516;AY339628;BC009378;CH471106;CR936652;DB169285;NM_001170635;NM_022737 AAH09378;AAP72153;AAQ73540;ABM84418;ABM87435;ABW03584;ABW03585;BAB14414;BAC04443;CAH10684;CAI56790;EAW84200;EAW84201;EAW84202;EAW84203;NP_001164106;NP_073574;Q96GM1 Hs.6846 1699558;1777606;2219908;5124558 LPPR2__6417;RH103379;RH98197;STS-N51328 DKFZp761E1121;FLJ13055;PRG-4;PRG4 PRG-4;lipid phosphate phosphatase-related protein type 2;plasticity related gene 4;plasticity-related gene 4 protein protein-coding ENSG00000105520 17442 VALIDATED 70836 LPL lipoprotein lipase LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008] 8 8 p22 19840862 19869050 + 19796582 19824770 + 1580533;1580536;1580537;1580539;1302535;1300048;1580863;1302536;1556571;1578729;1580535;1556752;1357916;2313304;2313580;2313305;2313581;2313298;2313300;2313302;2313303;6480464;2306755;6909179;2308781;6907045;7240710 16431216;12708905;8641022;11071388;7635990;1907278;9920508;15127290;16132104;9973300;12483461;18321693;17712951;17848837;11016888;18985010;18952837;18823627;18780778;16813599;22009636;14531811 1969408;10727238;10085125;3973011;182536;12573449;19584682;19501493;19489872;19479237;19420105;19403283;19368142;19367320;19367093;19357293;19336475;19336370;19335919;19299407;19295657;19259048;19254215;19246456;21385844;19207029;19191728;19185650;19167106;19155782;19148283;19131662;19099922;19060911;19060910;19060906;19052449;19034316;19034041;19028676;19018513;19004026;18996102;18986377;18927546;18922999;18724972;18693040;18681781;18676680;22541364;18660489;18649389;18636124;18635818;18619685;18603820;18596051;18590804;18535540;18513389;18494281;18454146;18449420;18354102;18336668;18325076;18275964;18275685;18242618;18223635;18193046;18193044;18193043;18187430;18175800;18068174;18020971;17997385;17939375;17919884;17903299;17855807;17803213;20693566;17761930;17727701;17726453;17721767;17717288;17706445;17705673;17700364;17681919;17662793;17653444;17652898;17644777;17620184;17615573;17587400;17568951;17562973;17560523;17555736;17535427;17533471;17517063;17487735;17484619;17476032;17473385;17436307;17428620;17374417;17356047;17347923;17342071;17328917;17318300;17311894;17299379;17299085;17291198;17244606;17163816;17157861;17137217;17130180;17093291;17072956;17058522;17032721;17029199;17006673;17001213;16989840;16965549;16926441;16896939;16894468;16864937;16840197;16837242;16829344;16822320;16799404;16776623;16770077;16763159;16755277;16741292;16702309;16651467;16635607;16630553;16552397;16544732;16542392;16534528;16519597;16517593;16466345;16460718;16451134;16449872;16446009;16430904;16419488;16418216;16416313;16378107;16369102;16364275;16357806;16353345;16344560;16343038;16256241;16253639;16205020;16195478;16179346;16168296;16142021;16141008;16135440;16122151;16106048;16086925;16030523;16029634;16015281;16013913;15994321;15979432;15961789;15939061;15928243;15896905;15878772;15802535;15795426;15793775;15764642;15749185;15721013;15699916;15696473;15657615;15637076;15608561;15562208;15545743;15543643;15489334;15386377;15356086;15331147;15292372;15292370;15270617;15257172;15256516;15253101;15221136;15202783;15189363;15155715;15135251;15115692;15076187;15060087;15051515;15019539;14988305;15858619;15857159;14988233;14984315;14967813;14764824;14702039;14693718;14669227;14660566;14581156;14580165;14580156;14570890;14564687;14553962;12966036;12964943;12919138;12915220;12905705;12889841;12876415;12866915;12865761;12862202;12818414;12793009;12782148;12777470;12747600;12746411;12740382;12732844;12704407;12701046;12690214;12687649;12679477;12655575;12647273;12636935;12544508;12514935;12501246;12477932;12446192;12408999;12370850;12230584;12226739;12208477;12174215;12164879;12133567;12133533;12117735;12107736;12082592;12044583;12042669;11996946;11947965;11921083;11899831;11897170;11893778;11893776;11852057;11834518;11796709;11796707;11730816;11714860;11714857;11711487;11702219;11702052;11683775;11680797;11605530;11593500;11579204;11534394;11533368;11500192;11484171;11441189;11427211;11395037;11341749;11316129;11284423;11229437;11205691;11194013;11171287;11140837;11132601;11126401;11096142;11073182;10660334;10391209;9719626;9662394;9519338;9430364;9401010;9374130;9298816;9183545;8956048;8567671;8486765;8449037;8325986;8308035;8301230;8288243;8144523;8135797;8125298;8096693;7989348;7906986;7818530;7806969;7713910;7686151;7647785;7592875;7510694;3823907;3692485;3515966;3355847;2701938;2536938;2349938;2340307;2294743;2243796;2121025;2110364;2038366;2010533;1975597;1752947;1737848;1731801;1730727;1702428;1674945;1639392;1619366;1598907;1576758;1537564;1521525;1511985;1479292;1406652;1400331;1371284;1281473;16169070;12755701;20228263;20536507;20565774;20571754;20588308;20596061;20602615;20616609;20628086;20634891;20657596;20673868;20679960;20694148;19780863;16928730;17018885;17463246;18534873;18616755;18821565;19170196;19340428;19428034;19471043;19534808;19542565;19556723;19558660;19563912;19578796;19596235;19602472;19625176;19629056;19642912;19656773;19664517;19689828;19692168;19709746;19729601;19766899;19772655;19773416;19783858;19818126;19834535;19878569;19884647;19888660;19899640;19910634;19913121;19948975;19956635;20031538;20031551;20031591;20075597;20092038;20099167;20108206;20150529;20160193;20167577;20235787;20347446;20350420;20385819;20400780;20403997;20410100;20416077;20429872;20430250;20430392;20452482;20506644;20421589;20581395;22772754;19875996;20538960;20691829;20712903;20714348;20836743;20855565;20864672;20943490;20595410;20301485;21044743;21060192;21478160;21386085;20650961;21146168;21159338;21252145;21419757;7753827;21832049;22810051;22820186;21193198;21398697;21518912;21499891;21508119;21943158;21722517;21252727;20926921;21127884;21448664;21854610;21980507;21139048;21966368;22828442;23089926;23505323;21840003;21862952;22018640;21816453;20686565;21909109;22078753;22095987;22101375;22123668;22171074;22244040;22286219;22368174;22399527;22239554;21145461;21621348;21988832;23056264;23008484;22729917;23478142;22773878;22916037;15178420;20929345;21162862 4023 E5RHN7;E5RJI0;E5RJZ4;E7EW14;P06858 ABBA01021552;AC100802;AC107964;AF050163;AK092286;AK222464;AK290290;AK297164;AK312311;AMYH01018558;AY092405;BC011353;BT006726;CH471080;CR457054;DA485210;DQ083390;M15856;M76722;NG_008855;NM_000237;S76076;S76077;S78266;X14390;X54516;X68111 AAA59528;AAB20999;AAB21000;AAB59536;AAC61679;AAH11353;AAM23256;AAP35372;AAY85371;ABM84467;ABM84677;BAD96184;BAF82979;BAG35236;BAG52519;BAH12512;CAA32564;CAA38372;CAA48230;CAG33335;EAW63764;NP_000228;P06858 Hs.180878 1643689;1656410;1664251;1709098;1741027;1741719;1742021;1742095;1742873;1743179;1745533;2176766;2190769;2217564 D8S1948;GDB:177387;GDB:182360;GDB:189516;GDB:191079;GDB:212664;GDB:285016;GDB:623664;LPL;LPL_4009;RH36522;RH70259;SHGC-85707;STS-M15856 HDLCQ11;LIPD OTTHUMP00000034806;lipoprotein lipase 2289455;2314771;2314781;2314791 BW300_H;BW512_H;GLUCO108_H;GLUCO109_H APPROVED protein-coding ENSG00000175445 6677 01999 144250;238600;609708 REVIEWED 1605099 LPPR4 lipid phosphate phosphatase-related protein type 4 The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 1 p21.2 97983902 98029193 + 99502488 99547728 + 99729848 99775140 + 6480464 9455484;16169070;12730698;12477932;12069809;19766573;20379614;20381006;23213074 9890 Q7Z2D5 AB007924;ABBA01045458;AF357013;AF541281;AK291369;AK300361;AL136147;AL139425;AL834390;AMYH01000822;AY304518;BC041386;BC042963;CH471097;NM_001166252;NM_014839 AAH41386;AAH42963;AAI48349;AAO85400;AAP57770;AAP72155;BAA32300;BAF84058;BAG62101;CAD39052;EAW72991;EAW72992;NP_001159724;NP_055654;Q7Z2D5 Hs.13245 1771923;1852556;2135870;2142629;2143720;2148585;2162157;5024547;5094076 A006O32;A009B28;D1S2428;D1S3698;G34958;SHGC-75184;SHGC-75185;SHGC-75201;SHGC-75202 KIAA0455;LPR4;PHP1;PRG-1;PRG1;RP4-788L13.1 OTTHUMP00000012462;brain-specific phosphatidic acid phosphatase-like protein 1;lipid phosphate phosphatase-related protein type 4;plasticity related gene 1;plasticity-related gene 1 protein APPROVED protein-coding ENSG00000117600 07425 607813 REVIEWED 1604517 LPPR5 lipid phosphate phosphatase-related protein type 5 The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p21.3 97609711 97724382 - 99128389 99243037 - 99355801 99470449 - 6480464 16010976;12477932;9110174;8619474;20032306;20379614;23064961;23251661;23259602 163404 Q32ZL2 ABBA01045460;AF131783;AK295688;AL161744;AL445433;AL590110;AMYH01000821;AY574039;AY634620;BC040174;BC136350;BC144000;BF514931;CH471097;DR001828;FJ472844;NM_001010861;NM_001037317;R37934 AAH40174;AAI36351;AAI40087;AAI43087;AAI44001;AAS76645;AAT64918;ACJ60628;BAG58540;EAW72994;NP_001010861;NP_001032394;Q32ZL2 Hs.483948 1652428;1675541;1681779;1857558;2117715;5122241 AL009347;RH36855;RH64658;RH79763;SHGC-75188;STS-T87228 PAP2;PAP2D;PRG5 OTTHUMP00000012445;OTTHUMP00000235208;PRG-5;lipid phosphate phosphatase-related protein type 5;phosphatidic acid phosphatase 2d;phosphatidic acid phosphatase type 2;plasticity-related gene 5 protein;plasticity-related protein 5 APPROVED protein-coding ENSG00000117598 12966 REVIEWED 1602461 LPPR3 lipid phosphate phosphatase-related protein type 3 The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008] 19 19 19 p13.3 317 3691 + 763518 772952 - 812488 821952 - 14702039;12730698;12477932;11230166;16169070;21890473 79948 Q6T4P5 ABBA01002597;ABBA01002598;ABBA01002599;AC004799;AC006273;AC112703;AF357888;AF541282;AK021597;AL136596;AMYH01009202;AMYH01009203;AMYH01009204;AY304517;AY436785;BC012339;BC017295;CH471242;NM_001270366;NM_024888 AAH12339;AAO85401;AAP57771;AAP72154;AAR10818;BAB13851;CAB66531;EAW61149;EAW61150;EAW61151;NP_001257295;NP_079164;Q6T4P5 Hs.546439;Hs.743704 LPR3;PRG-2;PRG2 OTTHUMP00000226891;OTTHUMP00000226892;PAP-2-like protein 2;lipid phosphate phosphatase-related protein type 3;plasticity-related gene 2 protein APPROVED protein-coding ENSG00000129951 07755 610391 VALIDATED 68515 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy. [provided by RefSeq, Jul 2008] 4 4 q32.1 155884613 155893720 + 155665163 155674270 + 1599754;1580863;6480464;6893650;6484694;6484672;6484679;6907045;7240710 11381255;21447403;19700416;21621639;21718801 18823527;18544127;17438524;17011878;16939223;16115871;15489334;15474300;15161698;14704332;14596594;14581364;12477932;12009892;11162450;11133845;10819989;9920938;9767084;1322170;20356843;22570351;18652909;19471114;19665987;20574532;20591486;20801516;15583024;21465477;20301475;20301590;22605381;22559933 9227 D6RC94;O95237 ABBA01070159;ABBA01070160;AC009567;AF071510;AK125823;AK292598;AMYH01014634;AY546085;AY546086;BC031053;CH471056;NG_009110;NM_004744 AAD13529;AAH31053;AAS49412;AAS49413;ACT64530;ACT64531;ADZ15832;BAF85287;EAX04904;NP_004735;O95237 Hs.658427 1661123;1696162;2108213;2138602;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;LRAT_8915;SHGC-67616;SHGC-67662;SHGC-79148 LCA14;MGC33103 OTTHUMP00000220354;OTTHUMP00000220355;lecithin retinol acyltransferase APPROVED protein-coding ENSG00000121207 6685 05332 604863;613341 REVIEWED 6770658 LRCOL1 leucine rich colipase-like 1 12 q24.33 133179736 133187037 - 11752456;16344560;16541075 100507055 A6NCL2 ABBA01012380;AC131212;AMYH01004920;AV653338;BX282338;CH471218;DB344052;JQ012741;JQ012742;NM_001195520 A6NCL2;AFD01644;EAW54842;NP_001182449 Hs.282811 2119607 G16012 leucine-rich colipase-like protein 1;uncharacterized protein LOC645277 protein-coding 44160 VALIDATED 1345231 LRE1 LINE retrotransposable element 1 6480464 4029 Q15606 6686 151626 1353895 LRE2 LINE retrotransposable element 2 7920631 4030 Q12881 U09116 6687 151628 1350031 LRE3 LINE retrotransposable element 3 8393568 4031 6688 1346612 LRE4 LINE retrotransposable element 4 4032 6689 1314681 LRCH3 leucine-rich repeats and calponin homology (CH) domain containing 3 3 3 3 q29 196134228 196214562 + 199002542 199082853 + 197518145 197598456 + 737633;6480464 12477932 15489334;15324660;14702039;20805893;21890473;22505724 84859 B4E0T7;E9PD99;F5H3V2;F8WFB5;H7C0F9;H7C0J8;H7C1G3;Q96II8 ABBA01007561;ABBA01007562;ABBA01007563;AC055764;AC144530;AK024647;AK055819;AK125235;AK128758;AK293745;AK300466;AK303521;AL137527;AMYH01013808;AMYH01013809;BC007504;BC008625;BC010565;CH471252;NM_032773;XR_171093;XR_171440 AAH07504;AAH10565;ABM84194;ABM87597;BAG51577;BAG57168;BAG62185;BAG64549;CAB70791;EAW92242;EAW92243;EAW92244;EAW92245;NP_116162;Q96II8 Hs.518414;Hs.744109 1662458;1671519;1675323;1699296;1777950;1856967;2122609;2147582;5037552 D3S2839E;D8S2279;G16562;G29222;RH103233;RH12742;RH80465;STS-D80227;WI-20825 FLJ20994;FLJ43245;FLJ44976;MGC4126 2210409B11Rik;OTTHUMP00000207958;OTTHUMP00000207959;OTTHUMP00000207960;OTTHUMP00000207961;OTTHUMP00000207962;leucine-rich repeat and calponin homology domain-containing protein 3 protein-coding ENSG00000186001 28637 14308 PROVISIONAL 1322886 LRBA LPS-responsive vesicle trafficking, beach and anchor containing The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 4 4 4 q31.3 148505159 149256493 - 151405044 152156329 - 151185811 151936649 - 1580863;6480464 17474147;17353931;17081983;15554694;14702039;20379614;12477932;12160729;11254716;1505956;22863883;23022380;21139048;21890473;21906983;22608502;22721650;22053931;19738201;23000965;23092984 987 E9PEM5;F5H1X8;H0Y9N9;H0YA17;H0YAC6;P50851 AA810175;AB208838;ABBA01070087;ABBA01070088;ABBA01070089;ABBA01070090;ABBA01070091;ABBA01070092;ABBA01070093;ABBA01070094;ABBA01070095;ABBA01070096;AC079794;AC092544;AC092612;AC093748;AC097373;AC104796;AC110813;AF216648;AF217149;AF467287;AK026483;AK098039;AK098552;AK122920;AMYH01014611;AMYH01014612;AMYH01014613;AMYH01014614;BC012535;BC064834;BT007180;BX537552;CH471056;CR749633;M83822;NG_032855;NM_001199282;NM_006726 AAB09603;AAG48558;AAG48559;AAH12535;AAH64834;AAM53530;AAP35844;AAY40973;AAY40984;BAD92075;BAG53798;CAH18427;EAX04996;NP_001186211;NP_006717;P50851 Hs.480938 1338007;1338030;1652487;1658969;1668606;1674648;1678163;1681604;1706488;1708942;1713209;1718953;1749251;1756127;1760903;1773648;1849299;1851422;2146266;2149163;2151959;2158065;2164414;2173752 AFM308zg5;Cda1jc12;D4S1549;D4S1606;D4S3296;D4S3308;D4S861;G17087;G33590;RH120392;RH123184;RH18383;RH35889;RH36164;SHGC-110939;SHGC-142923;SHGC-144646;SHGC-24704;SHGC-52898;SHGC-79526;SHGC-81135;SHGC4-530;STS-H68709;WI-10361 BGL;CDC4L;CVID8;DKFZp686A09128;DKFZp686K03100;DKFZp686P2258;FLJ16600;FLJ25686;LAB300;LBA;MGC72098 CDC4-like protein;OTTHUMP00000220231;OTTHUMP00000220232;OTTHUMP00000220234;beige-like protein;cell division cycle 4-like;lipopolysaccharide-responsive and beige-like anchor protein;vesicle trafficking, beach and anchor containing APPROVED protein-coding ENSG00000198589 1742 07344 606453;614700 REVIEWED 1313845 LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010] 13 13 13 q14.11 28183132 28383118 + 46025304 46215731 + 47127296 47327176 + 6480464 18049793;16891653;16447229;12477932;12168954;10231032;17549794;14702039;16344560;17762607;20237151;8889548;20805893;23022380;21906983;22325041;18729074 23143 C9J5B8;C9JWE0;Q9Y2L9 AB023233;ABBA01050995;AK123654;AK292898;AK309937;AL136958;AL138704;AL359880;AL530544;AMYH01005097;AY050631;AY050632;BC026097;BC112937;BC117472;BC143883;BE018226;BM679696;BM991796;BM994390;CB529998;CB999464;CH471075;CR739467;DA231068;NG_021335;NM_001164211;NM_001164213;NM_015116 AAH26097;AAI12938;AAI17473;AAI43884;AAK95567;AAK95568;ADR83344;BAA76860;BAF85587;EAX08766;NP_001157683;NP_001157685;NP_055931;Q9Y2L9 Hs.507971 1337545;1655938;1661256;1661810;1675207;1684162;1696656;1698708;1707726;1729938;1760245;1779710;1782838;2111616;2129214;2158192 D10S194;D13S126;D13S1555;D13S328;RH102914;RH44520;RH44695;RH46302;RH80890;SHGC-132545;SHGC-141900;SHGC-153685;SHGC-33657;SHGC-82078;SHGC-82965;STS-T60161 CHDC1;FLJ41660;KIAA1016;NP81 OTTHUMP00000018372;OTTHUMP00000018373;OTTHUMP00000214856;leucine-rich repeat and calponin homology domain-containing protein 1;neuronal protein 81 APPROVED protein-coding ENSG00000136141 20309 14307 610368 REVIEWED 1354195 LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] X X X q23 114780355 114903805 - 114251435 114374891 - 114345179 114468635 - 6480464 21145461;18029348;15772651;14702039;12477932;10819331;17643375;20616063;20805893;21606681 57631 Q5VUJ6 AB040928;ABBA01053642;ABBA01053643;ABBA01053644;ABBA01053645;ABBA01053646;ABBA01053647;ABBA01053648;ABBA01053649;ABBA01053650;ABBA01053651;ABBA01053652;ABBA01053653;ABBA01053654;ABBA01053655;AC239923;AK022128;AL121878;AL445164;AL589786;AMYH01022852;AMYH01022853;AMYH01022854;BC042004;BC125223;BC125224;BG541540;BX647193;CH471120;NG_021299;NM_001243963;NM_020871 AAI25224;AAI25225;BAA96019;BAB13966;EAX02617;EAX02618;NP_001230892;NP_065922;Q5VUJ6 Hs.65366 1663134;2115631;2148573 DXS7310;L77633;NIB1759 KIAA1495;MGC150671;dA204F4.4 OTTHUMP00000023873;leucine-rich repeat and calponin homology domain-containing protein 2 APPROVED protein-coding ENSG00000130224 29292 06602 REVIEWED 1312734 LPXN leupaxin The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 11 11 q12.1 58050920 58099910 - 58294344 58345639 - 1580863;6480464 16094384;9565592;18497331;18451096;17640867;17329398;16189514;15786712;15592455;15489334;15342556;15144186;12674328;12477932;10604475;8889548;8125298;19913121;20628086;19760607;19917054;20098747;20543562;21890473;21906983;23088713;21900206;22505724;21988832;23128233;23349640 9404 B7Z5P7;E9PNX9;O60711 ABBA01021488;ABBA01021489;ABBA01021490;AF062075;AK223165;AK299264;AK300955;AK301093;AK313306;AMYH01003660;AP001350;AP003557;BC007490;BC019035;BC034230;BP261314;BU688891;CH471076;CR536531;NM_001143995;NM_004811 AAC16014;AAH19035;ABM83631;ABM86880;BAD96885;BAG36111;BAG62583;BAG62693;BAH12983;CAG38768;EAW73807;EAW73808;EAW73809;NP_001137467;NP_004802;O60711 Hs.125474 1679313;1719353;1736991;2108211;2167866;2184620 D11S2720;LPXN_8932;RH123404;RH36139;RH93068;STS-W46419 LDPL OTTHUMP00000235992;OTTHUMP00000235993;leupaxin APPROVED protein-coding ENSG00000110031 14061 05651 605390 REVIEWED 1350359 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 11 11 11 q13.2 63953000 63956070 + 66381549 66384522 + 66624876 66627946 + 737633;6480464 12477932 16828986;16495444;15489334;15146197;21704618;21926972;22677168 78999 E7ENX6;E9PLQ1;Q6PJG9 AB209005;ABBA01024059;AMYH01003736;AP003176;BC000207;BC007718;BC014040;BC015581;BC027475;BC071866;BC094813;CH471076;CN297399;NM_024036 AAH00207;AAH07718;AAH14040;AAH15581;AAH27475;AAH71866;AAH94813;BAD92242;EAW74573;EAW74574;NP_076941;Q6PJG9 Hs.209979;Hs.714189 1675818 RH98812 FIGLER6;MGC3103;SALM3;SALM3. OTTHUMP00000235159;fibronectin type III, immunoglobulin and leucine rich repeat domains 6;leucine-rich repeat and fibronectin type-III domain-containing protein 4 protein-coding ENSG00000173621 28456 14310 612810 VALIDATED 1313671 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 19 19 19 q13.12 33142210 33150285 + 41119862 41127937 + 36428022 36436097 + 737633;1580863;6480464 12477932 17081983;16828986;16495444;15489334;14702039;12975309 79414 Q9BTN0 ABBA01018774;AF038458;AK172754;AK313579;AMYH01009737;AY358127;BC003578;NM_024509 AAH03578;AAQ88494;ABM84598;ABM86751;BAD18740;NP_078785;Q9BTN0 Hs.143792 FIGLER1;MGC2656;SALM4 fibronectin type III, immunoglobulin and leucine rich repeat domains 1;leucine-rich repeat and fibronectin type-III domain-containing protein 3;synaptic adhesion-like molecule 4 protein-coding ENSG00000126243 28370 14309 612809 PROVISIONAL 1323493 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 6 6 6 p21.2-p21.1 41912256 42107705 - 40467351 40663104 - 40359373 40555126 - 1580863;6480464 16828986;16495444;14574404;12477932;10574462;20379614;22174418;23103227;23251661 57497 Q9ULH4 AB033072;ABBA01050765;ABBA01050766;AK291474;AL033380;AL359475;AL591063;AMYH01016290;BC109041;BC109042;BC142616;CH471081;NM_020737 AAI42617;BAA86560;BAF84163;EAX04006;NP_065788;Q9ULH4 Hs.250015 1338964;1710158;1714613;1718365;2126383;5124658;7185440 D6S1607;RH119972;RH122955;RH78230;RH98364;SHGC-82338 FIGLER2;KIAA1246;RP11-535K1.2;SALM1 OTTHUMP00000016361;fibronectin type III, immunoglobulin and leucine rich repeat domains 2;leucine-rich repeat and fibronectin type-III domain-containing protein 2;synaptic adhesion-like molecule 1 protein-coding ENSG00000156564 21226 17444 612808 PROVISIONAL 1312309 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 19 19 19 q13.2 36599137 36607655 - 44489297 44497816 - 39797457 39805976 - 6480464 10819331;16828986;12477932;16169070;21900206;21906983 57622 Q96C50;Q9P244 AB040917;ABBA01040726;AC011445;AMYH01009791;BC014678;BC025310;BC040681;CH471126;NM_020862 AAH14678;AAH25310;BAA96008;EAW56872;NP_065913;Q9P244 Hs.97860 1662666;2219910;5023733 AU048745;G31081;LRFN1__6420 KIAA1484;SALM2 leucine-rich repeat and fibronectin type III domain-containing protein 1;synaptic adhesion-like molecule 2 protein-coding ENSG00000128011 29290 612807 VALIDATED 1314592 LRCH4 leucine-rich repeats and calponin homology (CH) domain containing 4 This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008] 7 7 7 q22 94901433 94913573 - 100009570 100021712 - 100171634 100183776 - 1580863;6480464 9799793;16449650;17081983;16189514;15489334;14702039;12690205;12477932;18851979;16169070;19060904;20508642;20805893 4034 C9JYK0;H7C5D9;O75427 AACC02000084;ABBA01013198;AC069281;AF459638;AK074833;AK097420;AK128189;AK302410;AMYH01017738;AMYH01017739;BC007634;BC018529;BG722226;CH236956;CH471091;NM_002319 AAH07634;AAH18529;AAQ04768;ABM84491;ABM85166;BAG52011;BAG63720;EAL23828;EAW76519;EAW76520;NP_002310;O75427 Hs.125742 5022651 D11S2921 FLJ40101;FLJ46315;LRN;LRRN1;LRRN4;PP14183;SAP25 OTTHUMP00000215775;leucine rich repeat neuronal 4;leucine-rich neuronal protein;leucine-rich repeat and calponin homology domain-containing protein 4;leucine-rich repeat neuronal protein 4 APPROVED protein-coding 6691 10062 REVIEWED 1319662 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14 14 14 q21.1 21937439 22234297 + 41147090 41443499 + 42076764 42373752 + 1580863;6480464 16828986;18029348;16344560;14702039;12477932;20379614;20410109;21736948;22443383;23459443 145581 G3V364;G3V4N1;Q96NI6 ABBA01018006;ABBA01018007;ABBA01018008;ABBA01018009;ABBA01018010;AK055365;AK096627;AK299632;AL109662;AL121821;AL138498;AL832129;AMYH01005691;AMYH01005692;AW013887;BC043165;CH471078;DA096504;NM_152447 AAH43165;ADZ15608;BAB70910;BAG53340;BAG61560;EAW65799;NP_689660;Q96NI6 Hs.136893 1703918;1708634;1728413;1774427;1852975;2191323 G63641;MARC_17372-17373:1021901358:1;RH48353;SHGC-31628;SHGC-83626;SHGC-85115 C14orf146;DKFZp686G0210;FIGLER8;FLJ30803;SALM5 OTTHUMP00000178908;fibronectin type III, immunoglobulin and leucine rich repeat domains 8;leucine-rich repeat and fibronectin type-III domain-containing protein 5 protein-coding ENSG00000165379 20360 17445 612811 VALIDATED 736558 LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 10 10 10 q23 79986785 79996866 - 85981256 85991197 - 85991276 86001217 - 633658;1580863;6480464 10777785 17081983;20800603;16385451;20237496 26103 Q9P2V4 AB031547;ABBA01003756;ABBA01003757;AC022389;AL080175;AMYH01002890;CH471142;NM_015613 AAI40297;BAA95681;CAB45761;EAW80359;NP_056428;Q9P2V4 Hs.226000 2106541 LRRC21__6429 DKFZp434K091;FIGLER9;LRRC21;PAL OTTHUMP00000019991;fibronectin type III, immunoglobulin and leucine rich repeat domains 9;leucine rich repeat containing 21;leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1;leucine-rich repeat-containing protein 21;photoreceptor-associated LRR superfamily protein;retina-specific protein PAL protein-coding ENSG00000148602 23404 14315 VALIDATED 1349039 LRG1 leucine-rich alpha-2-glycoprotein 1 The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008] 19 19 p13.3 4488227 4491036 - 4537227 4540036 - 1580863;6480464 22116432;18029348;12223515;14718574;3856868;19324010;17583700;17194537;16740002;16699948;16335952;15489334;15221005;14760718;12477932;11801638;22277732;19851871;20442399;17207965;21282491;21557262;22374925;23284758 116844 P02750;Q68CK4 AB073607;ABBA01056062;AC011498;AF403428;AK027382;AK303861;AK314506;AMYH01009337;BC034389;BC070198;CH471139;NM_052972 AAH34389;AAH70198;AAK95527;ADQ31727;BAD38644;BAG37106;BAG51312;BAG64800;EAW69211;NP_443204;P02750 Hs.655559 1680495;1682449;2129426;5014051;5022578;5022588 D1S1423;D5S1597E;D8S2278;RH48973;RH80514;RH91548 FLJ45787;HMFT1766;LRG 1300008B03Rik;2310031E04Rik;leucine rich alpha 2 glycoprotein;leucine-rich alpha-2-glycoprotein APPROVED protein-coding 29480 10056 611289 VALIDATED 1603904 LRGUK leucine-rich repeats and guanylate kinase domain containing 7 7 7 q33 128549620 128686380 + 133462645 133599473 + 133812105 133948933 + 6480464 18498660;14702039;12690205;12477932;20379614 136332 Q96M69 AACC02000025;ABBA01001105;ABBA01001106;ABBA01001107;AC008154;AC018646;AK057348;AMYH01017953;BC038800;BC104897;BC104899;CH236950;CH471070;NM_144648 AAI04898;AAI04900;BAB71441;EAL24072;EAW83807;NP_653249;Q96M69 Hs.149774 1335577;1341748;1655165;1713389;1723603;1726481;1727639;1850518;7187415;7187842 D7S2438;D7S631;D7S725;D8S2110;G62620;G63230;RH119550;RH121440 FLJ32786 OTTHUMP00000207723;leucine-rich repeat and guanylate kinase domain-containing protein protein-coding ENSG00000155530 21964 08734 PROVISIONAL 1319957 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 1 1 1 p13.1 111845570 111897091 + 113417354 113468865 + 113615831 113667342 + 1580863;6480464 18037903;15592455;15203213;15145052;14702039;12477932;9872452;22484910;18992012;20446891;21632100;23313374;22268729 9860 O94898 AB018349;ABBA01068447;ABBA01068448;ABBA01068449;AK074825;AK123606;AK291031;AL161998;AL357055;AMYH01000957;BC017961;BC117368;BC117370;CH471122;CR936669;NM_014813 AAI17369;AAI17371;BAA34526;BAF83720;BAG52009;BAG53920;CAB82328;EAW56556;EAW56557;NP_055628;O94898 Hs.448972;Hs.729143 1653299;1752895;2219914;5024087 A008L45;LRIG2__6423;SHGC-106802;SHGC-75336 DKFZp451C181;KIAA0806;LIG-2;LIG2;UFS2 LIG-2;OTTHUMP00000013964;leucine-rich repeats and immunoglobulin-like domains protein 2 protein-coding ENSG00000198799 20889 12321 608869;615112 PROVISIONAL 1315602 LRIG1 leucine-rich repeats and immunoglobulin-like domains 1 3 3 p14 66511911 66633535 - 66429221 66550845 - 6480464 18922900;18542056;18037903;17851870;17624990;17178829;16877544;16168117;15489334;15345710;15282549;14520461;12684867;12477932;12234026;12067728;11414704;8798419;22484910;22797727;19300910;19490591;20379614;21076409;21087604;21431282;23383273;21128282;22554477;21632100;22241084;21821674;21909108;22318606;22464327;23208928;23581227 26018 Q96JA1 AB050468;ABBA01030865;AC092034;AC099665;AC126122;AF381545;AK126745;AK294984;AK314103;AL117666;AMYH01013255;AMYH01013256;AY730707;BC014276;BC071561;BC140907;CH471055;NM_015541 AAH14276;AAH71561;AAI40908;AAK62357;AAU44786;BAB40659;BAG54369;BAH11940;CAB56036;EAW65452;EAW65453;NP_056356;Q96JA1 Hs.518055 1649736;1709754;1763091;1765999;1857226;2122113;2184897;5113469 RH91921;SHGC-146827;SHGC-149392;SHGC-33872;SHGC-77066;SHGC-77070;SHGC-84688;WI-22136 DKFZp586O1624;LIG-1;LIG1 OTTHUMP00000213345;OTTHUMP00000213346;leucine-rich repeat protein LRIG1;leucine-rich repeats and immunoglobulin-like domains protein 1;ortholog of mouse integral membrane glycoprotein LIG-1 protein-coding ENSG00000144749 17360 10057 608868 VALIDATED 1347856 LRIG3 leucine-rich repeats and immunoglobulin-like domains 3 12 12 q14.1 57552204 57600529 - 59265937 59314319 - 6480464 19216216;19200647;18037903;17393120;16532360;15203213;14702039;12975309;12477932;21145461;19224171;19448407;20379614;20445134;20446891;16344560;21505989 121227 C9K080;F8VYZ5;H0YID8;Q6UXM1 ABBA01026681;ABBA01026682;AC078963;AK074921;AK130083;AK292857;AK301162;AL833710;AMYH01004527;AY358288;AY358295;AY505340;BC012380;BC126169;BC126171;BC143960;CH471054;DA456424;NM_001136051;NM_153377 AAI26170;AAI26172;AAQ88655;AAQ88662;AAR98629;BAC11295;BAF85546;BAG62752;EAW97094;EAW97095;NP_001129523;NP_700356;Q6UXM1 Hs.253736 FLJ26573;FLJ90440;KIAA3016;LIG3 LIG-3;OTTHUMP00000242498;OTTHUMP00000242499;OTTHUMP00000242500;leucine-rich repeats and immunoglobulin-like domains protein 3 protein-coding ENSG00000139263 30991 08317 608870 VALIDATED 1603986 LRIF1 ligand dependent nuclear receptor interacting factor 1 1 1 1 p13.3 109736827 109753586 - 111291335 111308089 - 111489812 111506566 - 6480464 15383276;16710414;16189514;16169070;15489334;14702039;12477932;17207965;17455211;20562864;21963094;23542155;18029348;21900206;21987572;21906983;21252943;22505724 55791 Q5T3J3 ABBA01068395;AK001826;AK002131;AL360270;AL834466;AMYH01000945;AY190122;BC008115;BQ787643;BU192014;BU664417;CD686306;CH471122;NM_001006945;NM_018372 AAH08115;AAO43631;ADQ32762;BAA91928;BAA92097;CAD39125;EAW56460;EAW56461;NP_001006946;NP_060842;Q5T3J3 Hs.25245 1676027;1776834;2190571 AFMb017zg1;EST4F4;RH98723 C1orf103;FLJ11269;RIF1;RP11-96K19.1 OTTHUMP00000013687;OTTHUMP00000233497;ligand-dependent nuclear receptor-interacting factor 1;receptor interacting factor 1;receptor-interacting factor 1 APPROVED protein-coding ENSG00000121931 30299 17975 615354 VALIDATED 1352534 LRIT2 leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 10 10 10 q23.1 79975750 79980793 - 85970221 85975264 - 85980241 85985284 - 6480464 12477932;20237496;20379614 340745 A6NDA9;B7ZME6 ABBA01003757;AC022389;AC022394;AL603756;AMYH01002890;BC140765;BC144475;BX648524;CH471142;NM_001017924 A6NDA9;AAI40766;AAI44476;EAW80360;NP_001017924 Hs.450425 1341923;1667802;1711400;1735998;1766671;2107285;2156294;2164856;2164858;2173622;2179525 A001T01;D10S1287E;D10S1427;D10S1717;D10S2359;G19610;G42184;LRRC22__6430;RH15739;SHGC-149959;WI-18665 LRRC22 OTTHUMP00000019992;leucine rich repeat containing 22;leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2;leucine-rich repeat-containing protein 22 protein-coding ENSG00000204033 23443 18595 VALIDATED 1605227 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013] 4 4 4 q25 108066231 108087218 + 110991935 111012919 + 110769358 110793471 + 6480464 12477932;8889548;20332099;22673519;23246293 345193 Q3SXY7 ABBA01063785;AC005509;AC126283;AK126648;AMYH01014458;BC104037;BM665581;CH471057;DN994055;DT932743;JQ354981;NG_033249;NM_198506 AAI04038;AFH56665;BAC86628;EAX06256;NP_940908;Q3SXY7 Hs.308127 CSNB1F;FIGLER4;FLJ44691;MGC120618 OTTHUMP00000205710;fibronectin type III, immunoglobulin and leucine rich repeat domains 4;leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 protein-coding ENSG00000183423 24783 13495 615004;615058 REVIEWED 68599 LRP2 low density lipoprotein receptor-related protein 2 The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009] 2 2 q31.1 169691865 169927368 - 169983619 170219122 - 1580863;1641843;1641827;1641836;1641842;1641839;1641847;5510026;5490966;6480464;6484113;6907045;7240710 11685557;10919857;15266031;11841627;12121845;10404822;20635334;18772397 22437417;9773776;14528014;7768901;2786251;18791690;18685438;18559602;18448595;18174661;18070591;17979745;17632512;17555532;17457342;16828734;16713569;16344560;16174284;15670845;15134832;14657389;12879166;12768436;12723989;12713445;12707383;12508107;12107412;11994745;11912251;11717447;11595644;11421580;11278724;11274227;11158855;11095640;10982792;10827173;10772929;10769163;10753646;10364184;10330424;10203351;10073957;9837937;9727058;9655248;9492085;9334227;9071320;8898021;8710893;8706697;8344937;8187828;7959795;7686151;7657789;7579068;7512726;1382088;12169628;7775583;21595846;15583024;15951480;16908842;17474147;19940034;20031551;20038220;20052685;20379614;20468071;21079607;20800603;20971101;19913121;20628086;20301732;21104416;22170372;22174918;22565184;22649097;22578327;23275343;17260971;9228033;23274376 4036 E9PC35;P98164;Q7Z5C0;Q7Z5C1 ABBA01004962;ABBA01004963;ABBA01004964;AC007556;AC008178;AF065440;AK295005;AK302843;AMYH01011242;AMYH01011243;AMYH01011244;AY265357;AY265358;CD673312;CH471058;DA200673;DA339827;DA401915;NG_012634;NM_004525;S73145;U04441;U33837 AAB02882;AAB30825;AAB41649;AAC17129;AAP88585;AAP88586;AAX88965;AAY24266;BAG58066;BAG64033;EAX11280;NP_004516;P98164 Hs.657729 1645809;1647482;1661997;1705188;1713219;1724823;1725177;2108215;2118339;2119668;5093446 A009P03;D2S1416;D2S2879;G32722;LRP2_7816;RH120397;RH123671;RH124065;RH45139;SHGC-80045;WI-17537 DBS;GP330 Heymann nephritis antigen homolog;LRP-2;OTTHUMP00000163042;calcium sensor protein;glycoprotein 330;low density lipoprotein receptor-related protein 2;low-density lipoprotein receptor-related protein 2;megalin APPROVED protein-coding ENSG00000081479 6694 02509 222448;600073 REVIEWED 1314617 LRP1B low density lipoprotein receptor-related protein 1B LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands (Liu et al., 2001 [PubMed 11384978]).[supplied by OMIM, Mar 2008] 2 2 q21.2 140705466 142605740 - 140988996 142889270 - 1580863;6480464 10766186;19367585;17227771;16918994;16095885;15963947;15172977;15166012;15126508;14702039;12194987;12004004;11384978;11031110;17620599;21145461;20095042;20379614;20932654;20935630;21102462;20395239;21953277;21057533;21420681;23382691 53353 E7ERG8;H0Y7T7;H7C0A8;Q9NZR2 AB209707;ABBA01028090;ABBA01028091;ABBA01028092;ABBA01028093;ABBA01028094;ABBA01028095;ABBA01028096;ABBA01028097;ABBA01028098;ABBA01028099;ABBA01028100;ABBA01028101;ABBA01028102;ABBA01028103;ABBA01028104;ABBA01028105;ABBA01028106;AC010740;AC012003;AC012353;AC068195;AC068287;AC068943;AC073319;AC078882;AC079585;AC087056;AC092156;AC092575;AC093039;AC093859;AC108036;AC110087;AC110770;AC117947;AF176832;AF283327;AF283328;AF283329;AF283330;AF283331;AF283332;AF283333;AF283334;AF283335;AF283336;AF283337;AF283338;AF283339;AF283340;AF283341;AF283342;AF283343;AF283344;AF283345;AF283346;AF283347;AF283348;AF283349;AF283350;AF283351;AF283352;AF283353;AF283354;AF283355;AF283356;AF283357;AF283358;AF283359;AF283360;AF283361;AF283362;AF283363;AF283364;AF283366;AF283367;AF283368;AF283369;AF283370;AF283371;AF283372;AF283373;AF283374;AF283376;AF283377;AF283378;AF283379;AF283380;AF283381;AF283382;AF283383;AF283384;AF283385;AF283386;AF283387;AF283388;AF283389;AF283390;AF283391;AF283392;AF283393;AF283394;AF283395;AF283396;AF283397;AF283398;AF283399;AF283400;AF283401;AF283402;AF283403;AF283404;AF283405;AF283406;AF283407;AF283408;AF283409;AF283410;AF283411;AF283412;AF283414;AF283415;AF283416;AK054663;AMYH01011134;AMYH01011135;AMYH01011136;AMYH01011137;AMYH01011138;AMYH01011139;AMYH01011140;AMYH01011141;CH471058;NM_018557 AAF70379;AAL38107;AAL38108;AAL38109;AAL38110;AAL38111;AAL38112;AAX81990;AAX88846;AAX88911;AAX88968;AAX93075;AAX93103;AAX93208;AAX93243;AAY14689;AAY15024;AAY24167;AAY24318;BAB70786;BAD92944;EAX11602;NP_061027;Q9NZR2 Hs.656461 1335535;1336321;1336652;1339868;1340948;1342082;1342370;1646900;1647011;1668664;1670835;1672764;1676588;1681915;1685215;1695572;1696508;1704734;1705252;1707130;1710952;1717217;1718357;1718597;1720351;1726593;1726953;1727555;1728065;1728179;1738459;1744351;1752497;1767558;1783920;1784012;1784198;1784290;1857683;2130284;2130578;2141759;2146879;2165588;2172359;5093296;5491439;7185617;7186679 1850;A009L02;D13S1153;D2S127;D2S129;D2S1764;D2S1769;D2S1840;D2S1863;D2S2007;D2S2053;D2S2239;D2S2266;D2S2286;D2S2334;D2S349;D4S2727;G32635;G62529;G62722;G63035;G63303;G63512;GDB:451785;MARC_12159-29372:1046810869:1;RH122023;RH122951;RH122984;RH123926;RH91786;RH92045;SGC38031;SHGC-106350;SHGC-107477;SHGC-143348;SHGC-14438;SHGC-155491;SHGC-1646;SHGC-16622;SHGC-60470;SHGC-62012;SHGC-68764;SHGC-78116;SHGC-79647;SHGC-81331;SHGC-83144;SHGC-84451 LRP-DIT;LRPDIT LRP-1B;LRP-deleted in tumors;OTTHUMP00000162611;low density lipoprotein receptor related protein-deleted in tumor;low density lipoprotein-related protein 1B (deleted in tumors);low-density lipoprotein receptor-related protein 1B;low-density lipoprotein receptor-related protein-deleted in tumor APPROVED protein-coding ENSG00000168702 6693 16383 608766 VALIDATED 1316786 LRP1 low density lipoprotein receptor-related protein 1 The protein encoded by this gene is an endocytic receptor involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the A2M-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer patients. [provided by RefSeq, Jan 2010] 12 12 q13.3 55808549 55893409 + 57522282 57607142 + 1625030;1581910;1581921;1625022;1581913;1625012;1358747;1581911;1580863;6480464;6484113;6907045;7243102 14623925;14739216;14557872;16979164;12402342;17303763;9635959;15121769;18037995 20568118;18635818;3266596;2779654;10880251;19446849;19420105;19393132;19383717;19336475;19299462;19251705;19176371;19105203;19036715;19008962;18990694;18941243;18940800;18834984;18706476;18685438;18683150;18653767;18648652;18489712;18381291;18373737;18321860;18317248;18288927;18281370;18277139;18231792;18194421;18166789;18156630;17974965;17942912;17908054;17889283;17711877;17709443;17694066;17620659;17570828;17203175;17155964;17124247;17012232;16956829;16929535;16839343;16821592;16807059;16697011;16606588;16567404;16459332;16407289;16402284;16362633;16335952;16328515;16175004;16167883;16102056;16088940;16040006;15944146;15925094;15863833;15800028;15772078;15769472;15749709;15705932;15705569;15647823;15634227;15591119;15328156;15294142;15288502;15272003;15231748;15226301;15135046;15131125;15048651;15044004;15001579;14991768;14980518;14739301;14702039;14699139;14645246;14597676;14593097;14585398;12960961;12888553;12857755;12821648;12807892;12793904;12789267;12750160;12732394;12713657;12672816;12637503;12555245;12531796;12522212;12522143;12477932;12473559;12417024;12412500;12394648;12393177;12212791;12194978;12169628;12069755;11992244;11931574;11907044;11867643;11861214;11854294;11823454;11729193;11720768;11705989;11600564;11560994;11479307;11436125;11421580;11359936;11279011;11248808;11158305;11100124;11076057;11006321;10827173;10772929;10747918;10652313;7989348;7961982;7721852;7543026;7534747;7510694;7508685;2597675;2548950;2112085;1718973;1702392;1698775;1502153;8546712;8307199;1464627;1423505;1377168;1374383;1281473;16697675;15264223;7775583;11247302;10632583;10608878;10514495;10471328;10318830;9837937;9820815;9804823;9782078;9295345;9252371;9051770;9045716;9045712;8806749;8703036;21383009;21454812;22392894;22347399;22412921;22683712;22467855;23064555;19913121;20628086;20637261;17326667;19439404;19615732;19631509;19664312;19665999;19684401;19795391;19815552;19823686;19885591;19948975;19968964;20048078;20101615;20167577;20220145;20381197;20468060;20535486;8626514;20472562;16751776;20980003;20716178;20685197;20558745;20610799;20644732;21054788;20869432;22454511;22534531;21666692;20826454;21165580;21212259;22967844;23166318;23241409;21408136;21610072;22298529;22817990;21078624;21968187;21471105;21518850;21650223;21676865;21391865;21325077;22072275;21496869;22027013;21139048;21966368;22034896;22055160;21676498;22238606;20686565;21946350;19098903;22081071;22427881;20205790;22711991;23167255;23284291;21671167;23264627;23386606;23386614;23425335;22822085;17258834;17360663;19036954;21951552;22268729;22873206 4035 H0YJ88;H0YJI8;Q07954;Q59FG2;Q6PJ72;Q7Z7K9;Q86SW0 AB209498;ABBA01008451;ABBA01008452;ABBA01008453;ABBA01026708;ABBA01026709;AC023237;AC137628;AC137834;AF058427;AF370375;AK122840;AMYH01004512;BC021204;BC045107;BC052593;BC072015;BU502641;CH471054;DQ314873;NG_016444;NM_002332;X13916;X15424;X55077;Y18524;Y18525 AAC64265;AAH21204;AAH45107;AAH52593;AAH72015;AAQ15211;ABC40732;BAD92735;CAA32112;CAA33464;CAA38905;CAA77211;CAD57169;EAW96990;EAW96991;NP_002323;Q07954 Hs.162757 1754879;2144387;2147010;5108386 D12S113E;G28611;RH44498;SHGC-141809 A2MR;APOER;APR;CD91;FLJ16451;IGFBP3R;LRP;LRP1A;MGC88725;TGFBR5 LRP-1;OTTHUMP00000245726;TbetaR-V/LRP-1/IGFBP-3 receptor;alpha-2-macroglobulin receptor;apolipoprotein E receptor;prolow-density lipoprotein receptor-related protein 1;type V tgf-beta receptor APPROVED protein-coding ENSG00000123384 6692 00138 107770 REVIEWED 1343006 LRMP lymphoid-restricted membrane protein The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 30352134 30408250 + 25096508 25152536 + 25205181 25261269 + 1580863;6480464 8798562;8021504;18029348;18299280;16410263;15489334;12477932;9314557;8889548;20936779;19789190;20237496;20379614;20453000;20639392;16344560 4033 F5H006;F8VRE4;F8W9L6;G3V2F6;G3V3C2;G3V513;H0YJ39;H0YJC6;Q12912 ABBA01068014;ABBA01068015;AC023510;AI949664;AK303103;AK303256;AMYH01004339;AW206014;AW408383;BC029391;BC100277;BC126417;BC144164;BC144165;BC144170;BG505192;BM466207;BQ220483;BQ420905;BU679233;CH471094;DB135324;JA738685;NM_001204126;NM_001204127;NM_006152;U10485 AAA21604;AAH29391;AAI26418;ADR83025;BAG64212;BAG64339;CCF76995;EAW96503;EAW96504;EAW96505;NP_001191055;NP_001191056;NP_006143;Q12912 Hs.124922;Hs.732481 1670792;1689091;1728349;1754055;2107281;2109109;2118361;2129902;2154617 CASC1_9888;D12S1350E;G63456;LRMP_7815;RH17991;RH45039;RH92803;SHGC-132095;STS-H93733 JAW1 OTTHUMP00000243182;OTTHUMP00000243183;OTTHUMP00000243184;OTTHUMP00000243185;OTTHUMP00000244197;lymphoid-restricted membrane protein;protein Jaw1 APPROVED protein-coding ENSG00000118308 6690 03593 602003 REVIEWED 6767168 LRP4-AS1 LRP4 antisense RNA 1 11 46867962 46895967 + 21502573 100507401 ABBA01060728;AC021573;AMYH01003536;DB443018;DB507953;NR_038909 Hs.675301 1685806;1700372;1854047 NIB347;RH103806;RH75410 APPROVED miscrna ENSG00000247675 44128 VALIDATED 1321391 LRP10 low density lipoprotein receptor-related protein 10 14 14 14 q11.2 3203856 3210189 + 22410800 22417133 + 23340960 23347293 + 6480464 15498874;15489334;12975309;12766061;12477932;11123907;9110174;8889548;8619474;15101818;20093106;16751776;21139048;22734645 26020 H0YHW7;Q9UG33 ABBA01061287;AF131760;AF172816;AF177336;AK291030;AL080164;AL110149;AL135998;AL834518;AMYH01005599;AY358399;BC000424;BC018816;BC064901;BC080648;BC088378;BC113714;BC113716;BG699535;BX161500;CD677124;CF125793;CH471078;CR457151;NM_014045 AAD20037;AAG17980;AAH64901;AAH80648;AAH88378;AAI13715;AAI13717;AAQ13610;AAQ88765;BAF83719;CAB45753;CAD39174;CAD61944;CAG33432;EAW66232;EAW66233;EAW66234;EAW66235;NP_054764;Q7Z4F1 Hs.525232 1678199;1684524;2130015;2162968;2189415;2189423;2217566;5015861;5022578;5037552;7185938 180;D10S16;D1S1423;D8S2279;LRP10_3807;MARC_5443-5444:991939581:1;MARC_5751-5752:991939703:3;RH1635;RH70905;RH79166 DKFZp564C1940;LRP9;MGC142274;MGC142276;MGC8675;MST087;MSTP087 LRP-10;OTTHUMP00000164496;OTTHUMP00000243387;low-density lipoprotein receptor-related protein 10 protein-coding 14553 14311 609921 VALIDATED 1318469 LRP11 low density lipoprotein receptor-related protein 11 6 6 6 q25.1 150874576 150920142 - 150181625 150227173 - 150139894 150185480 - 6480464 15489334;14702039;14574404;12477932;8125298;21906983;17620599 84918 B4DS68;Q5VYB9;Q86VZ4 ABBA01025669;ABBA01025670;AK027641;AK223134;AK299599;AL355312;AMYH01016739;BC025239;BC043141;CH471051;N91459;NM_032832 AAH25239;AAH43141;BAB55257;BAG61530;EAW47784;EAW47785;NP_116221;Q86VZ4 Hs.408355 1664413;1664415;1739541;1776705;2181262;2181264;5037552 A001W48;D6S1224E;D6S1515;D8S2279;G19732;RH16466;SHGC-34285 FLJ14735;MANSC3;MGC39092;bA350J20.3 LRP-11;OTTHUMP00000017405;low-density lipoprotein receptor-related protein 11 protein-coding ENSG00000120256 16936 17446 VALIDATED 1601755 LRP2BP LRP2 binding protein 4 4 4 q35.1 183611183 183626320 - 186522027 186537146 - 186285032 186300152 - 6480464 12508107;15809689;12477932;10718198;19366958;19577669 55805 C9JGE6;D6RGF6;G5E9Z9;Q9P2M1 AB037746;ABBA01070531;ABBA01070532;AC073344;AK126913;AL161975;AMYH01014773;AMYH01014774;BC150161;BC152444;CH471056;NM_018409 AAI50162;AAI52445;BAA92563;BAG54395;CAB82313;EAX04649;EAX04650;NP_060879;Q9P2M1 Hs.558513 1657674;1658488;1773006;1776112;5015619;5022578 D11S3114;D1S1423;G33559;SGC38377;SHGC-37425;STS-H99959 DKFZp761O0113;FLJ44965 LRP2-binding protein;OTTHUMP00000218251;OTTHUMP00000218253;OTTHUMP00000218254;megBP;megalin-binding protein protein-coding ENSG00000109771 25434 10911 VALIDATED 1312675 LRP12 low density lipoprotein receptor-related protein 12 This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 8 8 8 q22.2 101688117 101787906 - 105570640 105670344 - 105501459 105601252 - 1580863;6480464 12809483;9927190;15489334;14702039;14676824;12477932;9921901;18029348;22570617;20439316;21139048;21757650 29967 E5RIW8;Q59H02;Q9Y561 AB208957;ABBA01037649;ABBA01037650;AC087370;AC090827;AF064841;AF166350;AI828757;AK022991;AK126348;AK289752;AK299374;AL698796;AMYH01018944;AMYH01018945;AMYH01018946;AP002847;BC017381;BC032109;CH471060;CR749434;CS265759;DC372924;NM_001135703;NM_013437 AAD44360;AAH32109;ABM83249;ABM86451;BAD92194;BAF82441;BAG54310;BAG61364;CAH18272;CAJ78400;EAW91895;EAW91896;EAW91897;EAW91898;NP_001129175;NP_038465;Q9Y561 Hs.600630;Hs.715867 1688981;1713081;2109481;2137028;5015861;5024761;5037552;7185938 D10S16;D8S2279;G32152;LRP12_9618;RH120328;RH36905;RH91323 DKFZp781F1053;FLJ12929;ST7 OTTHUMP00000227839;OTTHUMP00000227840;low-density lipoprotein receptor-related protein 12;suppressor of tumorigenicity 7 protein APPROVED protein-coding ENSG00000147650 31708 17447 REVIEWED 1606195 LRP5L low density lipoprotein receptor-related protein 5-like 22 22 22 q11.23 9551510 9581668 - 24077429 24088524 - 25747385 25777544 - 6480464 14702039;12477932;7566098;21900206 91355 A4QPB2;F5H316 AA307886;ABBA01055171;AK125903;AL022324;AL137651;AMYH01012677;BC091519;BC137460;BC137463;BC139736;CH471095;NM_001135772;NM_182492 A4QPB2;AAI37461;AAI37464;AAI39737;EAW59690;NP_001129244;NP_872298 Hs.634058 1747367 G65410 DKFZp434O0213 LRP-5-like;OTTHUMP00000198679;OTTHUMP00000198680;low-density lipoprotein receptor-related protein 5-like protein protein-coding ENSG00000100068 25323 13200 VALIDATED 731744 LRP4 low density lipoprotein receptor-related protein 4 This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010] 11 11 11 p11.2 47024050 47085802 - 46834994 46896652 - 46878268 46940173 - 68762;1580863;6480464;7240710 9693030 20205790;19079262;16554811;16344560;15489334;12477932;12421765;21471202;21502573;16517118;20005200;20381006;20554715;17549794;21969364;21645651;17620599;21890473;20686565;22794264 4038 E9PNJ5;O75096 AB011540;AB084910;AB231861;ABBA01060726;ABBA01060727;ABBA01060728;AC021573;AK027175;AMYH01003536;BC037360;BC041048;BC136667;BC136668;BQ446811;CH471064;DA799511;DB061460;NG_021394;NM_002334 AAH37360;AAH41048;AAI36668;AAI36669;BAA32468;BAD83615;BAE19679;EAW67974;EAW67975;NP_002325;O75096 Hs.4930 1854047 NIB347 CLSS;KIAA0816;LRP-4;LRP10;MEGF7;SOST2 OTTHUMP00000234021;low-density lipoprotein receptor-related protein 4;multiple epidermal growth factor-like domains 7 APPROVED protein-coding ENSG00000134569 6696 18517 212780;604270;614305 REVIEWED 1319617 LRP5 low density lipoprotein receptor-related protein 5 This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. [provided by RefSeq, Nov 2009] 11 11 q13.4 67836684 67973319 + 68080108 68216743 + 1599835;1625350;1580863;2293188;2293491;6480464;6484113;6907045;7240710 15346351;17002564;18432252;15923619 11401438;21542013;21774378;9714764;10049586;9790987;19506792;19453261;19336475;19233690;19225709;19177549;19158955;19148563;19107203;19023643;18932002;18825883;18721193;18684085;18676680;18588671;18524778;18521528;18502762;18493104;18455228;18418639;18406176;18349089;18285546;18073493;18058054;18044981;18026682;17972053;17953969;17700537;17680723;17505772;17307038;17306638;17276019;17241106;17229572;17223614;17202888;17137849;17087607;17086708;17052975;17002572;16958596;16956801;16772034;16754270;16723389;16679074;16631011;16622736;16613987;16513652;16355283;16234968;16168727;16115379;15981244;15979013;15923613;15908424;15824861;15824851;15781005;15777745;15619672;15355556;15231748;15221492;15201508;15084453;15077203;15024691;14735475;14731402;14727154;12817748;12700977;12581525;12579474;12509515;12477932;12054167;12015390;11793484;11741193;11719191;11516963;11448771;22487062;21432225;20846389;11336703;9831343;9199553;8659519;7775583;18632848;20630166;19746449;19147944;19170196;19571442;19625176;19629617;19673927;19692168;19789208;19801982;19810105;19851296;19898734;19948975;20034086;20101398;20141633;20146170;20198315;20200978;15035989;17955262;20045498;20200960;18350154;20926594;20953208;20960157;20961463;19913121;20534768;20554715;20613673;20628086;18762581;21147715;11029007;12121999;12857724;21116122;21351148;21471826;21397183;23077402;23041840;21407258;21528003;21821287;21887268;21885484;22207519;22303459;21139048;21840657;21906983;22000856;22513174;22167346;20301326;22589387;21963094;22504420;22848540;23054017;22696217 4041 E9PHY1;H0YE98;O75197 AA279383;AA953315;AB017498;ABBA01023997;ABBA01023998;ABBA01023999;ABBA01024000;ABBA01024001;ABBA01024002;AF064548;AF077820;AF088027;AF283320;AF283321;AMYH01003759;AMYH01003760;AMYH01003761;AMYH01003762;AMYH01003763;AP000807;AP002813;BC098397;BC150595;CH471076;NG_015835;NM_002335 AAC36467;AAC72791;AAI50596;AAK52433;BAA33051;EAW74705;EAW74706;NP_002326;O75197 Hs.6347 1298330;1340317;1340887;1341994;1663604;1676854;1687666;1722861;1738047;1757145;2108217;2148932;7187871 AFM289ya9;D11S1337;D11S3666;D11S4087;D11S4178;D11S970;D11S987;G60523;LRP5_7818;RH11806;RH12415;SHGC-144578 BMND1;EVR1;EVR4;HBM;LR3;LRP7;OPPG;OPS;OPTA1;VBCH2 LRP-5;OTTHUMP00000236183;low density lipoprotein receptor-related protein 7;low-density lipoprotein receptor-related protein 5 1643405 BMD9_H APPROVED protein-coding ENSG00000162337 6697 04616 144750;166710;259770;601813;601884;603506;607634;607636 REVIEWED 733839 LRP3 low density lipoprotein receptor-related protein 3 19 19 19 q13.11 30379187 30393366 + 38377330 38390383 + 33685599 33699773 + 633319;1580863;6480464 9693042 16344560;16303743;15489334;14702039;12477932;11390366;8889548;7959795 4037 K7EK82;K7EKP5;O75074 AB009462;ABBA01039621;AC008738;AF085860;AK074751;AK126750;AK129963;AK295505;AK296536;AK316314;AMYH01009702;BC007408;BU739456;DA496540;DR002806;NM_002333 AAH07408;ABW03838;BAA32330;BAC85262;BAG51998;BAG58424;BAG59164;BAH14685;NP_002324;O75074 Hs.515340 2145241 SHGC-52396 105 kDa low-density lipoprotein receptor-related protein;LRP-3;hLRp105;low-density lipoprotein receptor-related protein 3 protein-coding 6695 04406 603159 VALIDATED 1354477 LRPAP1 low density lipoprotein receptor-related protein associated protein 1 4 4 p16.3 3484093 3503941 - 3505324 3534224 - 1358749;1581921;1581922;1580863;1641936;1641937;6480464;6484113 11425005;14557872;12394648;7723231;7778686 9782079;7774585;2229028;3266596;1712782;16263759;8083232;8654360;18721259;18494379;18075286;18055545;17987404;17913606;17536759;17123336;16837242;16704534;16650578;16517593;16344560;16175004;15815621;15489334;15213425;14674767;12899622;12637503;12477932;12193592;11992244;11793025;11557679;11384978;11006321;10747918;10571241;9207124;9013611;9010785;8940146;8125298;7959795;7822276;7789983;7592875;7535288;7512726;7510321;1718973;1400426;1374383;11912251;16798736;10783161;11167825;16169070;19913121;20628086;20936779;15342917;18029348;19826010;19851296;20198315;20403997;20637261;21062971;11181995;17000644;21139048;19098903;15576338 4043 D6REW6;P30533 ABBA01029467;AF035767;AK222504;AK222527;AK292321;AK310598;AK310851;AK311600;AK312698;AL365520;AL365522;AL590235;AMYH01013891;AMYH01013892;BC007841;BC105074;BC112067;BX647984;CH471131;CS101462;DB035408;M63959;NM_002337;U06976 AAA51553;AAA87889;AAC67373;AAH07841;AAI05075;AAI12068;BAD96224;BAD96247;BAF85010;BAG35576;CAJ00723;EAW82460;EAW82461;NP_002328;P30533 Hs.40966 1649043;1660747;1721483;1730031;1742471;1744875;1745463;1851765;1854184;2127957;2155987;2166627;5016506;5022651;5109281;7184660 D11S2921;D1S1425;D4S125;G33876;G59595;GDB:197442;GDB:574135;GDB:574140;GDB:607744;SHGC-31233;SHGC-51659;SHGC-59848;STS-L33987;STS-U06976;WI-22663 A2MRAP;A2RAP;HBP44;MGC138272;MRAP;RAP OTTHUMP00000115346;alpha-2-MRAP;alpha-2-macroglobulin receptor-associated protein;alpha-2-macroglobulin receptor-associated protein 1;lipoprotein receptor associated protein;low density lipoprotein receptor-related protein-associated protein 1;low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) protein-coding 6701 00082 104225 VALIDATED 3208116 LRRC10B leucine rich repeat containing 10B 11 11 11 q12.2 58611635 58613853 + 61033047 61033925 + 61276272 61278490 + 6480464 16554811 390205 A6NIK2 ABBA01003201;AMYH01003679;AP003108;AW137416;NM_001145077 A6NIK2;NP_001138549 Hs.441122 2110235 UniSTS:471080 LRRC10-like protein ENSP00000367315;OTTHUMP00000238202;leucine rich repeat containing 10-like;leucine-rich repeat-containing protein 10B protein-coding ENSG00000204950 37215 VALIDATED 1313932 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011] 1 1 p34 53483800 53566409 - 53708036 53793821 - 1358346;1358468;2306125;2306124;2324974;6480464;6483063;6483065;6483062;6483059;6484113;6483064;7240710 12893944;12764038;18592168;17847002;19846452;17614163;20208369;21119114;22419519;12399018 8626535;11152697;10380922;11369809;19439088;19282863;19116273;19056482;18489431;18089558;18039658;17470198;16951405;16642433;16481437;16332682;16034672;15950758;15489334;15313836;14732905;14702039;12950167;12899622;12871934;12824284;12807892;12681505;12670700;12621059;12477932;12426372;12169628;12167620;10571240;10508213;10231386;10218790;9079678;10827173;19913121;20628086;19661487;19720620;19948739;20331378;20493228;15459198;21554715;21601501;22589174;21316997;21906983;21347244;21963094;21157031;22170052;22404453;22109552;22889673;23192594;23524007 7804 E9PKG2;E9PP15;H0YCA4;H0YEA5;H0YEV6;Q14114 AA775280;ABBA01074742;AK096482;AK122887;AL119002;AL355483;AL606760;AMYH01000627;AMYH01000628;BC006443;BC051836;BE543079;BM477111;CD300289;CF593917;CH471059;D50678;D86407;DB452432;DB455425;DR002432;NG_011517;NM_001018054;NM_004631;NM_017522;NM_033300;Z75190 AAH06443;AAH51836;BAA09328;BAA21824;BAA21825;BAG53302;CAA99509;EAX06740;EAX06741;EAX06742;EAX06743;EAX06744;EAX06745;NP_001018064;NP_004622;NP_059992;NP_150643;Q14114 Hs.280387 1653102;1692322;1765311;2153398;2217570;5022651 AL033818;D11S2921;LRP8_3896;SHGC-148805;SHGC-32417;SHGC-74840 APOER2;HSZ75190;LRP-8;MCI1 ApoE receptor 2;LRP-8;OTTHUMP00000010479;OTTHUMP00000010480;OTTHUMP00000010481;OTTHUMP00000231869;apolipoprotein E receptor 2;low-density lipoprotein receptor-related protein 8 APPROVED protein-coding 6700 04002 602600;608446 REVIEWED 3418715 LRRC14B leucine rich repeat containing 14B 5 5 5 p15.33 291236 295074 + 244626 248468 + 191626 195468 + 389257 A6NHZ5 ABBA01034263;AC021087;AMYH01014821;NM_001080478 A6NHZ5;AAI56516;AAI72511;NP_001073947 Hs.683662 OTTHUMP00000220418;leucine-rich repeat-containing protein 14-like;leucine-rich repeat-containing protein 14B protein-coding 37268 PROVISIONAL 1315270 LRPPRC leucine-rich pentatricopeptide repeat containing This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012] 2 2 p21 43968391 44076648 - 44113363 44223144 - 1600674;1600676;1580863;6480464;7240710 17050673;12529507 8012652;12832482;12762840;17353931;18063578;15907802;15272088;14743216;12477932;11827465;11464862;9110174;8619474;21319273;20200222;21109938;21266382;20308539;20562859;20633537;20843780;20877624;19615732;20201926;20220140;21252943;23361976;23455922;23599432;23798571;23822101;22939629;15047060;16196087;17314511;18029348;20186120;22446626;22586326;18457437;21081666;21971050;19738201;21525035;22623428;22904065;23000965;23349634;18781797;21987572;22045337;21139048;21693764;21890473;22145905;20473970;23358156;22190034;22661577;22797925;22808186;22952844;23184937 10128 B8ZZ38;C9JCA9;E5KNY5;H7C3W8;P42704 ABBA01075097;ABBA01075098;AC108476;AC127379;AF052133;AK125781;AK130686;AK290016;AK299869;AK308348;AMYH01010304;AY289212;BC010282;BC026034;BC038181;BC050311;BC130285;BQ021667;CH471053;HQ205426;HQ205427;HQ205428;HQ205429;HQ205430;HQ205431;HQ205432;HQ205433;HQ205434;HQ205435;HQ205436;HQ205437;HQ205438;HQ205439;HQ205440;HQ205441;HQ205442;HQ205443;HQ205444;HQ205445;HQ205446;HQ205447;HQ205448;HQ205449;HQ205450;HQ205451;HQ205452;HQ205453;HQ205454;HQ205455;HQ205456;HQ205457;HQ205458;HQ205459;HQ205460;HQ205461;HQ205462;HQ205463;HQ205464;HQ205465;M92439;NG_008247;NM_133259 AAA67549;AAH10282;AAH26034;AAH50311;AAI30286;AAP41922;AAY24012;AAY24043;ADP90894;ADP90895;ADP90896;ADP90897;ADP90898;ADP90899;ADP90900;ADP90901;ADP90902;ADP90903;ADP90904;ADP90905;ADP90906;ADP90907;ADP90908;ADP90909;ADP90910;ADP90911;ADP90912;ADP90913;ADP90914;ADP90915;ADP90916;ADP90917;ADP90918;ADP90919;ADP90920;ADP90921;ADP90922;ADP90923;ADP90924;ADP90925;ADP90926;ADP90927;ADP90928;ADP90929;ADP90930;ADP90931;ADP90932;ADP90933;BAC86287;BAF82705;BAG61722;EAX00284;NP_573566;P42704 Hs.368084 1335659;1341481;1659595;1675852;1709400;1775818;1778324;1789566;2127281;2182713;5015663 ATA47C04;D2S1761;D2S1882;D2S2298;D2S4009;RH11763;RH65967;RH70240;RH91337;SHGC-8019;SHGC-81724 CLONE-23970;GP130;LRP130;LSFC 130 kDa leucine-rich protein;LRP 130;OTTHUMP00000202377;leucine-rich PPR motif-containing protein, mitochondrial;leucine-rich PPR-motif containing;mitochondrial leucine-rich PPR motif-containing protein APPROVED protein-coding ENSG00000138095 15714 06343 220111;607544 REVIEWED 1312373 LRP6 low density lipoprotein receptor-related protein 6 This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009] 12 12 p13.2 12160226 12311078 - 12268959 12419811 - 1580863;2293188;2298725;2298724;4110127;6480464;6484113;6907045;7240710 18432252;12660824;18006602 20974802;21397183;19910923;22606268;20846389;16263759;16564009;16543246;9704021;19453261;19339249;19293931;19107203;19015224;18981475;18838381;18772438;18717822;18676680;18606139;18524778;18505732;18502762;18493104;18406176;18378904;18362152;18350154;18083125;18077588;17804805;17765217;17698587;17569865;17517621;17376403;17332414;17326769;16989816;16513652;16384981;16365045;16355283;15908424;15516984;15489334;15469977;15342556;15271658;15084453;14739301;14702039;12897152;12857724;12477932;11742004;11448771;11357136;11029007;10036184;8889549;12581525;20460648;18215320;16890161;20388731;20676368;19170196;19477926;19625176;19667113;19692168;19711366;19801552;19833493;19881541;19898734;20053636;20057906;20093360;20137080;20194742;20351274;20390408;20543981;20926594;19913121;20628086;12121999;18948618;21245321;22570728;21536646;18762581;23302227;20227366;21887268;21984209;22372892;22490400;21139048;21906983;22128165;23077088;21944579;22000855;22000856;20128690;22575959;22589387;23306204;22871567;16815997;21963094;22682247;23000965;22696217;22645275;22899650;22393312 4040 F5H0Z3;F5H7J9;H0YGH0;H0YGW5;O75581 AA126261;AB209683;ABBA01067829;ABBA01067830;AC007537;AC007621;AF074264;AF090131;AK074543;AK074902;AK094666;AK124760;AMYH01004288;BC029941;BC117136;BC126405;BC143725;BP229563;CH471094;JA738609;NG_016168;NM_002336 AAC33006;AAD21410;AAI17137;AAI26406;AAI43726;BAD92920;BAG51971;BAG52027;CCF76957;EAW96253;NP_002327;O75581 Hs.584775;Hs.658913 1660248;1669841;1685692;1701154;1853826;2167326;2217568;5491501;5492333 D12S1310;G41286;G41288;LRP6_4011;Lrp6;MARC_16075-16076:1041970786:1;RH104205;RH70320;RH80314 ADCAD2;FLJ90062;FLJ90421 LRP-6;OTTHUMP00000238979;OTTHUMP00000238980;OTTHUMP00000238982;low-density lipoprotein receptor-related protein 6 APPROVED protein-coding ENSG00000070018 6698 04617 603507;610947 REVIEWED 1322717 LRR1 leucine rich repeat protein 1 The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] 14 14 14 q21.3 29925243 29941208 + 49135165 49151140 + 50065415 50081390 + 6480464 15489334;12477932;11804328;19615732;21074724;21139048;21906983;21963094;21145461;15601820;23000965;19295130;22948661 122769 G3V5H2;Q6AWA7;Q6P393;Q96L50 AA742244;ABBA01018110;ABBA01018111;AK293156;AL139099;AMYH01005711;AMYH01005712;AY052405;BC030142;BC064133;BC093697;BC107888;BC112241;BC139921;BI825814;BI826606;BI829295;BQ059807;BX248298;BX648029;CH471078;NM_152329;NM_203467;NR_037792;NR_037793 AAH30142;AAH64133;AAH93697;AAI07889;AAI12242;AAI39922;AAI46426;AAI48860;AAL11430;ABM83195;ABM86396;BAG56701;CAD62625;CAH10374;EAW65761;EAW65762;EAW65763;EAW65764;NP_689542;NP_982292;Q96L50 Hs.451090 1699254;2146981;2164074 G36188;RH103208;SHGC-57967 4-1BBLRR;LRR-1;MGC20689;PPIL5 4-1BB-mediated signaling molecule;4-1BB-mediated-signaling molecule;LRR-repeat protein 1;OTTHUMP00000178930;OTTHUMP00000178931;OTTHUMP00000244627;OTTHUMP00000244628;cyclophilin-like 5;leucine-rich repeat protein 1;peptidylprolyl isomerase (cyclophilin) like 5;peptidylprolyl isomerase (cyclophilin)-like 5, isoform 3;peptidylprolyl isomerase-like 5 APPROVED protein-coding ENSG00000165501 19742 15164 609193 REVIEWED 1348592 LRRC10 leucine rich repeat containing 10 12 12 12 q15 69666001 69668599 - 68288611 68291209 - 70002344 70004942 - 6480464 18391951;15489334;14751244;14702039;12477932 376132 Q3KP57;Q5BKY1 ABBA01026537;AC018921;AK095935;AK123908;AMYH01004567;BC090881;BC106892;BC106893;CH471054;NM_201550 AAH90881;AAI06893;AAI06894;BAC85724;EAW97231;NP_963844;Q5BKY1 Hs.448708 5493639 UniSTS:490079 HRLRRP;LRRC10A;MGC125812 OTTHUMP00000240979;leucine-rich repeat-containing protein 10 protein-coding ENSG00000198812 20264 17449 610846 PROVISIONAL 733250 LRRC15 leucine rich repeat containing 15 3 3 3 q29 192490979 192505408 - 195557273 195571761 - 194075976 194090472 - 1580863;6480464 18385238;16641997;16098915;14702039;12923058;12477932;11785964;17643375;19615732 131578 B3KWI4;Q8TF66 AB071037;ABBA01001629;AC125362;AC174158;AK022342;AK125112;AMYH01013779;BC101064;BC101065;BK001325;BQ183882;CH471052;NM_001135057;NM_130830 AAI01065;AAI01066;BAB84587;BAG54146;DAA01740;EAW78054;NP_001128529;NP_570843;Q8TF66 Hs.288467 1335762;1644149;1657374;2123356 D3S240;RH66634;STS-AA010814;WI-9793 LIB OTTHUMP00000209124;OTTHUMP00000209125;hLib;leucine-rich repeat protein induced by beta amyloid;leucine-rich repeat protein induced by beta-amyloid;leucine-rich repeat protein induced by beta-amyloid homolog;leucine-rich repeat-containing protein 15 protein-coding ENSG00000172061 20818 10058 VALIDATED 1318108 LRRC1 leucine rich repeat containing 1 6 6 6 p12.1 55321959 55451099 + 53767737 53896878 + 53659778 53788919 + 1580863;6480464 16344560;15489334;14702039;12477932;12200217;11440998;16169070;19596235;18029348;21832049;22939629;21139048;21890473;21906983;19322201 55227 Q5T0G3;Q9BTT6 ABBA01050522;ABBA01050523;AF332199;AF359380;AJ420513;AK001637;AK021896;AK292248;AL033384;AL513211;AMYH01016360;AU119761;BC003193;CH471081;NM_018214 AAH03193;AAK69623;AAK72246;ABW03439;BAA91801;BAB13929;BAF84937;EAX04429;EAX04430;NP_060684;Q9BTT6 Hs.646997;Hs.732252 1334969;1341760;1694158;1700754;1725085;1758661;2113272;2152905;2175257;2187685;2187687;2187689;2187691;2219916 AL035183;D6S1573;D6S2405;D6S466;G67400;G67401;G67403;G67404;LRRC1__6424;RH104002;RH118838;RH46765;RH47431;SHGC-149098 FLJ10775;FLJ11834;LANO;dJ523E19.1 LANO adapter protein;LAP (leucine-rich repeats and PDZ) and no PDZ protein;LAP and no PDZ protein;OTTHUMP00000016634;leucine-rich repeat-containing 1;leucine-rich repeat-containing protein 1 protein-coding ENSG00000137269 14307 608195 VALIDATED 1349280 LRRC16B leucine rich repeat containing 16B 14 14 14 q11.2 4385685 4403416 + 23591046 23608777 + 24521206 24538937 + 6480464 16344560;15028280;12477932;10737800;21102520;19846667 90668 Q8ND23 ABBA01061330;AI017934;AI631690;AK074167;AL136295;AL834197;AMYH01005609;BC008134;BG913168;BG977591;BU102125;DA121863;DT932621;NM_138360 AAH08134;BAB84993;CAD38886;NP_612369;Q8ND23 Hs.26135 1713793;2144432;2174641 RH120783;SHGC-32365;STS-F02322 C14orf121;CARMIL3;crml-1 leucine-rich repeat-containing protein 16B protein-coding ENSG00000186648 20272 11278 614716 VALIDATED 1345850 LRRC2-AS1 LRRC2 antisense RNA 1 3 3 3 p21.3 46537026 46537541 + 46574206 46574921 + 46599303 46599818 + 6480464 11896456;12461651 83598 Q9BQQ8 ABBA01024713;AC104304;AI954616;AJ312775;AMYH01013131;BX279889;CH471055;NG_021214;NR_073385 CAC37400;EAW64772 Hs.570630 LUZP3;LUZP3P;LUZPP1 APPROVED miscrna 15571 VALIDATED 1348401 LRRC14 leucine rich repeat containing 14 This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 8 8 8 q24.3 141919071 141926237 + 145714199 145721365 + 145743363 145750562 + 6480464 21145461;15489334;12477932;7584026;19615732;21139048;19295130 9684 E9PNL0;E9PP40;E9PRP5;Q15048 ABBA01005200;AC084125;AK289473;AMYH01019156;AMYH01019157;BC011377;BU634522;CH471162;D25216;NG_033083;NM_001272036;NM_014665 AAH11377;ACT64568;ACT64569;BAA04946;BAF82162;EAW82066;EAW82067;EAW82068;EAW82069;NP_001258965;NP_055480;Q15048 Hs.459391 1790463;2118336;2124514 LW61-40;RH25253;SGC30393 KIAA0014;LRRC14A OTTHUMP00000228789;OTTHUMP00000228790;leucine-rich repeat-containing protein 14 protein-coding ENSG00000160959 20419 14312 VALIDATED 1315346 LRRC16A leucine rich repeat containing 16A 6 6 6 p22.2 26506841 26847962 + 25387627 25728737 + 25279656 25620758 + 6480464 19084217;15302935;15146197;12477932;10737800;8125298;16712791;19503597;19846667;19861489;19890391;20162742;20162743;20379614;18029348;20800603;16054028;22939629;20360068;22118674;21890473;19531213;22411988;22423221;22139419 55604 Q5VZK9;Q8IW66 ABBA01066544;ABBA01066545;ABBA01066546;ABBA01066547;ABBA01066548;AI142012;AK000055;AK123817;AK125696;AK225208;AL022170;AL024509;AL160037;AMYH01016158;AMYH01016159;AMYH01016160;BC040903;BC140770;BE765272;BF330246;BG978388;BQ423885;CB132825;CD691491;CN283219;CV330537;FJ009082;NM_001173977;NM_017640;Y10210;Y10508;Y10514;Y10518;Y10519;Z83935;Z83950 AAH40903;AAI40771;AAI72272;AAI72573;ACI49709;BAA90912;BAC85701;BAC86250;NP_001167448;NP_060110;Q5VZK9 Hs.649550;Hs.670507 1337397;1337992;1654359;1659181;1667509;1683201;1754257;1765231;1788818;1788864;1788908;1788910;1847836;1847838;1852734;2122723;2138519;2158105;2160675;2184683;2189687;2189695 A008W31;D6S1281;D6S1621;D6S1964;D6S2233;D6S2234;D6S2294;D6S2295;G31035;G67624;G67625;G67626;G67635;RH17549;RH37444;RH46745;RH98607;SHGC-132275;SHGC-148722;SHGC-35058;SHGC-53482;SHGC-53569 CARMIL;CARMIL1;CARMIL1a;FLJ20048;FLJ43708;LRRC16;dJ501N12.1;dJ501N12.5 CARMIL homolog;OTTHUMP00000016106;capping protein, Arp2/3, and Myosin-I Linker homolog 1;leucine rich repeat containing 16;leucine-rich repeat-containing protein 16A protein-coding ENSG00000079691 21581 11285 609593 VALIDATED 1352045 LRRC18 leucine rich repeat containing 18 10 10 10 q11.23 43703127 43707879 - 49787534 49792286 - 50117528 50122280 - 6480464 17903303;16189514;15707978;15489334;12975309;12477932;19838193;17207965 474354 Q8N456 ABBA01047230;AC060234;AMYH01002640;AY358137;BC036722;NM_001006939 AAH36722;AAQ88504;ADQ32476;NP_001006940;Q8N456 Hs.202438 MGC34773;UNQ933;UNQ9338;VKGE9338 OTTHUMP00000019568;leucine-rich repeat-containing protein 18 protein-coding ENSG00000165383 23199 17450 VALIDATED 1344845 LRRC17 leucine rich repeat containing 17 7 7 7 q22.1 97360514 97393405 + 102340688 102372632 + 102553344 102585558 + 6480464 19336404;16344560;15489334;12975309;12853948;12477932;8982252;8125298 10234 C9JT74;Q8N6Y2 ABBA01057996;AC005250;AC073127;AI961444;AK225701;AK226021;AK290305;AMYH01017810;AY358889;BC027903;CH471070;DA749917;NM_001031692;NM_005824;U32907 AAB41565;AAH27903;AAQ89248;AAS07483;ACE86884;ACE87571;BAF82994;EAW83307;EAW83308;NP_001026862;NP_005815;Q8N6Y2 Hs.567412 1656518;2107283;2145387 G30989;G31044;LRRC17__6427 P37NB 37 kDa leucine-rich repeat (LRR) protein;OTTHUMP00000211713;OTTHUMP00000211714;leucine-rich repeat-containing protein 17 protein-coding ENSG00000128606 16895 10059 VALIDATED 1352396 LRRC25 leucine rich repeat containing 25 19 19 19 p13.11 18403783 18410244 - 18362954 18369415 - 18501954 18508415 - 737633;1580863;6480464 12477932 14702039;12975309;12384430;17207965;21044950 126364 Q8N386;Q8TAB8 ABBA01051260;AC008397;AJ422148;AK095435;AMYH01009591;AY358151;BC025744;BC033825;BC053659;BC071640;BC093842;BI910095;CH471106;NM_145256 AAH25744;AAH53659;AAH71640;AAH93842;AAQ88518;ABM81850;ADQ31930;BAC04548;CAD19531;EAW84695;EAW84696;NP_660299;Q8N386 Hs.332156 5015861;7185938 D10S16 FLJ38116;MAPA leucine-rich repeat-containing protein 25;monocyte and plasmacytoid activated molecule;monocyte and plasmacytoid-activated protein protein-coding ENSG00000175489 29806 09597 607518 VALIDATED 1350270 LRRC19 leucine rich repeat containing 19 9 9 9 p21.2 26921285 26933841 - 26983586 26995670 - 26993134 27005691 - 1580863;6480464 15489334;14702039;12477932;19679103;8125298 64922 Q53GE4;Q9H756 ABBA01065135;AK024955;AK025070;AK222987;AL355432;AMYH01019295;BC056252;BC126156;BC136298;BF431646;CH471071;NM_022901 AAI26157;AAI36299;ADR82971;BAB15042;BAD96707;EAW58574;NP_075052;Q9H756 Hs.128071 5022578 D1S1423 FLJ21302 OTTHUMP00000021165;leucine-rich repeat-containing protein 19 protein-coding ENSG00000184434 23379 14313 VALIDATED 1323318 LRRC2 leucine rich repeat containing 2 This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011] 3 3 3 p21.31 46494616 46545734 - 46531917 46596576 - 46556876 46608040 - 6480464 16344560;15489334;12477932;11896456;8125298;14702039;20379614;12461651;16432833;20420713;20616063;21606681 79442 Q53F49;Q9BYS8 ABBA01024713;AC098613;AC104304;AJ308569;AK057808;AK223440;AK314658;AK315636;AMYH01013131;BC029118;BP420656;CH471055;DA144445;DA342323;NG_021214;NM_024512 AAH29118;BAB71585;BAD97160;BAG37217;BAG38004;CAC33442;EAW64769;EAW64770;EAW64771;NP_078788;Q9BYS8 Hs.657345 1854771;2110491;5015404;5015861;5022450;5037552;7185938 D10S16;D10S275;D8S2279;L17705;LRRC2__6428;WI-15076 OTTHUMP00000164712;OTTHUMP00000209906;leucine-rich repeat-containing protein 2 APPROVED protein-coding ENSG00000163827 14676 06213 607180 REVIEWED 1605162 LRRC24 leucine rich repeat containing 24 8 8 8 q24.3 141923441 141928096 - 145718580 145723216 - 145747761 145752416 - 6480464 15489334;12477932;8889548;7584026 441381 G3V1D8;Q50LG9 AB178281;ABBA01005200;AC084125;AMYH01019156;AMYH01019157;BC111067;BQ185133;CH471162;NG_033083;NM_001024678 AAI11068;BAD97811;EAW82065;NP_001019849;Q50LG9 Hs.740859 1648009;2118336;2124514 RH11522;RH25253;SGC30393 LRRC14OS;MGC111484 OTTHUMP00000228794;OTTHUMP00000228795;leucine-rich repeat-containing protein 24 protein-coding ENSG00000254402 28947 18651 VALIDATED 1603823 LRRC26 leucine rich repeat containing 26 9 9 9 q34.3 110577036 110578146 - 139183031 139184312 - 140063210 140064491 - 6480464 19250639;16585525;16712791;12477932;20613726;21822313 389816 Q2I0M4 ABBA01022747;AL929554;AMYH01021893;BC140911;CB160046;DN996987;DQ355157;NG_011507;NM_001013653 AAI40912;ABC79623;NP_001013675;Q2I0M4 Hs.669977 CAPC;bA350O14.10 BK channel auxiliary gamma subunit LRRC26;BK channel auxilliary gamma subunit LRRC26;OTTHUMP00000022690;cytokeratin associated protein;cytokeratin-associated protein;cytokeratin-associated protein in cancer;leucine-rich repeat-containing protein 26 protein-coding ENSG00000184709 31409 18397 613505 VALIDATED 1604054 LRRC23 leucine rich repeat containing 23 12 12 12 p13 8632507 8642019 + 6884213 6893667 + 7013897 7023406 + 6480464 16344560;16341674;16030496;15489334;12477932;9074930;8889548;8723724;8125298;16712791 10233 A8K8K2;C9JEW3;C9JKE8;C9JQN5;E9PDZ4;F2Z299;Q53EV4 ABBA01017666;AI524335;AK223535;AK292291;AK292367;AMYH01004209;AMYH01004210;AY834277;BC011980;BC014450;BC029858;BM714841;BM822373;CA444672;CB140563;CH471116;DB027456;NM_001135217;NM_006992;NM_201650;U47924;U72508;U72509;U72510 AAB51319;AAC51638;AAH29858;AAV97885;ABM82277;ABW03381;BAD97255;BAF84980;BAF85056;EAW88712;EAW88713;EAW88714;EAW88715;EAW88716;NP_001128689;NP_008923;NP_964013;Q53EV4 Hs.155586;Hs.661103 1683821;2133406;2144775 RH71256;RH99235;STS-U72508 LRPB7 B7;OTTHUMP00000210370;OTTHUMP00000210371;OTTHUMP00000210372;OTTHUMP00000210377;OTTHUMP00000210378;OTTHUMP00000210379;leucine-rich protein B7;leucine-rich repeat-containing protein 23 protein-coding ENSG00000010626 19138 09818 VALIDATED 1343727 LRRC30 leucine rich repeat containing 30 18 18 18 p11.23 7116420 7117325 + 7221137 7222042 + 7231137 7232042 + 339291 A6NM36 ABBA01049911;AMYH01008793;AP005270;NM_001105581 A6NM36;NP_001099051 Hs.647588 1709240 SHGC-85808 leucine-rich repeat-containing protein 30 protein-coding ENSG00000206422 30219 PROVISIONAL 1602483 LRRC20 leucine rich repeat containing 20 10 10 10 q22.1 65338800 65422388 - 71728735 71812388 - 72058729 72142382 - 6480464 15489334;15164054;14702039;12975309;12477932;16385451;20379614;17207965;20659327;16341674;21139048;21890473;16344560;23000965;23471985 55222 Q8TCA0 ABBA01019622;ABBA01019623;ABBA01019624;AC022532;AI703022;AK001613;AK001706;AK094734;AL122117;AL355138;AMYH01002812;AY358318;BC024001;BG771737;BM788766;CF552977;CH471083;DA032832;DA160782;DA386385;DA704994;DA775185;DA821329;NM_001278211;NM_001278212;NM_001278213;NM_001278214;NM_018205;NM_018239;NM_207119;NR_103467;NR_103468 AAH24001;AAQ88684;ADQ32781;BAA91789;BAA91849;BAC04409;EAW54388;EAW54389;EAW54390;EAW54391;EAW54392;EAW54393;EAW54394;EAW54395;EAW54396;EAW54397;NP_001265140;NP_001265141;NP_001265142;NP_001265143;NP_060675;NP_060709;NP_997002;Q8TCA0 Hs.7778 1341788;1646537;1766167;1772130;1858476;2123996 A001Z09;D10S1285E;D10S1436;D10S676;RH46509;SHGC-149545 FLJ10751;FLJ10844 OTTHUMP00000019750;OTTHUMP00000019751;OTTHUMP00000019752;OTTHUMP00000019753;OTTHUMP00000035622;leucine-rich repeat-containing protein 20 protein-coding ENSG00000172731 23421 14314 VALIDATED 5686930 LRRC3-AS1 LRRC3 antisense RNA 1 (head to head) 21 q22.3 45870869 45875167 - 8889548 100861510 AA725743;ABBA01074168;AMYH01012294;AP001065;BM664107;BM703952;NR_047476 Hs.505254 APPROVED miscrna ENSG00000229356 43636 VALIDATED 1316267 LRRC28 leucine rich repeat containing 28 15 15 15 q26.3 76210623 76345463 + 97609175 97744021 + 99791652 99926498 + 737633;6480464 12477932 15489334;14702039;12975309;17207965;21139048;21906983 123355 B4DEX4;B4DHL3;H0YK92;H0YKF6;H0YKM4;H0YKS9;H0YLR7;H0YM55;H0YM85;H0YNW4;Q86X40;Q8WUS2 ABBA01020554;ABBA01020555;ABBA01020556;AC022819;AC037479;AK091588;AK127177;AK292887;AK293832;AK295161;AK296352;AMYH01006966;AY358082;BC019704;BC047306;CH471101;NM_144598 AAH19704;AAH47306;AAQ88449;ADQ33047;BAC03702;BAC86870;BAF85576;BAG57235;BAG58175;BAG59034;EAX02240;EAX02241;EAX02242;EAX02243;EAX02244;NP_653199;Q86X40 Hs.578684 1670287;1680727;1682075;1774769;1790367;1853513;2144693;2191525 Bdyc7c01;G09713;MARC_26038-26039:1032450563:1;RH67937;RH98641;STS-AA009801;STS-H99801;TRA1 FLJ34269;FLJ45242;MGC24976 OTTHUMP00000194790;leucine-rich repeat-containing protein 28 protein-coding ENSG00000168904 28355 14316 PROVISIONAL 1318562 LRRC27 leucine rich repeat containing 27 10 10 10 q26.3 127790642 127841583 + 133995694 134043412 + 134145614 134195010 + 6480464 16344560;15489334;15164054;14702039;12477932;11214970 80313 B3KUK5;B4DJ72;B4DW88;H0Y4N5;Q86XT5 AB051461;ABBA01006179;AK091472;AK093250;AK097418;AK098652;AK295953;AK301422;AL096806;AL512722;AL590105;AMYH01003205;BC029902;BC050097;BC058159;BQ775276;BX117491;CH471066;DA203895;DA658738;DC352688;NM_001143757;NM_001143758;NM_001143759;NM_030626;NR_026559 AAH50097;BAB21765;BAC04108;BAC05366;BAG53467;BAG58734;BAG62950;EAW49121;EAW49122;EAW49123;EAW49124;NP_001137229;NP_001137230;NP_001137231;NP_085129;Q9C0I9 Hs.119897;Hs.469002 1701374;5015619;5015861;5021872;5037552;5109281;7185938 D10S16;D11S3114;D1S1425;D8S2279;RH104317;sY3084 OTTHUMP00000020759;OTTHUMP00000020760;OTTHUMP00000020761;OTTHUMP00000020762;leucine-rich repeat-containing protein 27 protein-coding ENSG00000148814 29346 17451 VALIDATED 1353942 LRRC29 leucine rich repeat containing 29 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 51749274 51769135 - 65798543 65818402 - 67241042 67260901 - 6480464 15489334;14702039;12477932;10531037 26231 C9JPW1;C9JSY0;C9K0K3;Q8WV35 ABBA01025432;AC040160;AF176701;AK096101;AK298088;AK316602;AMYH01007745;BC018785;BI085522;CH471092;NM_001004055;NM_012163 AAF03701;AAH18785;ABM82922;ABM86112;BAG38189;BAG53213;BAG60374;EAW83099;EAW83100;EAW83101;EAW83102;EAW83103;EAW83104;NP_001004055;NP_036295;Q8WV35 Hs.461000 2109483;2140909;2165686 LRRC29_9474;RH48583;RH78539 FBL9;FBXL9 F-box and leucine-rich repeat protein 9;F-box protein FBL9;F-box/LRR-repeat protein 9;OTTHUMP00000205610;OTTHUMP00000205611;OTTHUMP00000205612;OTTHUMP00000205613;OTTHUMP00000205614;leucine-rich repeat-containing protein 29 APPROVED protein-coding ENSG00000125122 13605 14317 REVIEWED 6480588 LRRC37A10P leucine rich repeat containing 37, member A10, pseudogene 17 42000143 42003711 - 100533791 ABBA01028395;AC007993;AMYH01008409;NG_028733 pseudo 43814 INFERRED 732363 LRRC3 leucine rich repeat containing 3 21 21 21 q22.3 30983450 30986796 + 44699821 44703167 + 45875393 45878739 + 6480464 17474147;15489334;12975309;12477932;12036297;21906983 81543 Q6ZSA1;Q9BY71 AB058646;ABBA01074166;ABBA01074167;ABBA01074168;ABBA01074169;AK127604;AMYH01012294;AP001065;AY061857;AY358120;BC064321;BC119648;BC119649;CH471079;NM_030891 AAI19649;AAI19650;AAL35741;AAQ88487;BAB40229;BAC87053;EAX09425;NP_112153;Q9BY71 Hs.326579 1659194;1784450;1790613;5020885;5037552;5492151 D8S2279;L17791;SHGC-154943;SHGC-87688;STS_CEB245;Trpm2 C21orf102 OTTHUMP00000038507;leucine-rich repeat-containing 3;leucine-rich repeat-containing protein 3 protein-coding ENSG00000160233 14965 11286 VALIDATED 1605363 LRRC36 leucine rich repeat containing 36 16 16 16 q22.1 51869004 51927309 + 65918248 65976605 + 67360747 67419109 + 6480464 15342556;14702039;12477932 55282 B7Z4G3;B7Z7B3;H3BND7;H3BNV0;H3BQI9;H3BRB2;H3BRP7;H3BS33;H3BSQ6;J3QRT0;J3QSG3;Q1X8D7;Q9NV11 ABBA01025434;ABBA01025435;AC009061;AK001866;AK292311;AK297329;AK301766;AK309897;AK311487;AMYH01007746;AY313780;AY963267;BC018031;BC026156;BP294008;CH471092;NM_001161575;NM_018296 AAH26156;AAP81011;AAY46032;BAA91949;BAF85000;BAH12549;BAH13549;EAW83125;EAW83126;EAW83127;NP_001155047;NP_060766;Q1X8D7 Hs.125139 2138637;5022651;5109281 D11S2921;D1S1425;STS-AA024526 FLJ11004;RORBP70;XLHSRF2 ROR gamma binding protein 70;ROR gamma-binding protein 70;heat shock regulated 2;leucine-rich repeat-containing protein 36 protein-coding ENSG00000159708 25615 08558 VALIDATED 7244109 LRRC37A17P leucine rich repeat containing 37, member A17, pseudogene 644397 ABBA01041111;ABBA01041112;ABBA01041113;ABBA01041114;ABBA01041115;AC005670;AC068152;AMYH01008444;AMYH01008445;AMYH01008446;NG_028735 1774779 D17S1689 pseudo 48365 INFERRED 1346329 LRRC31 leucine rich repeat containing 31 3 3 3 q26.2 167956313 167987206 - 171039723 171070453 - 169557029 169587660 - 6480464 16344560;15489334;14702039;12975309;12477932 79782 E5RJA9;Q6UY01 ABBA01058701;ABBA01058702;ABBA01058703;AC078795;AK026912;AK097338;AMYH01013642;AY358138;BC117401;BC143569;BC143582;CH471052;DA425899;DA967755;NM_001277127;NM_001277128;NM_024727 AAI17402;AAI43570;AAQ88505;ADR83061;BAB15589;BAC05004;EAW78535;NP_001264056;NP_001264057;NP_079003;Q6UY01 Hs.411295 1773820;2182991 B317ZB9;SHGC-77516 FLJ23259;FLJ40019 OTTHUMP00000226663;OTTHUMP00000226664;OTTHUMP00000226665;leucine-rich repeat-containing protein 31 protein-coding ENSG00000114248 26261 08023 VALIDATED 1319230 LRRC32 leucine rich repeat containing 32 This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008] 11 11 11 q13.5-q14 73676360 73689583 - 76046222 76058543 - 76368568 76381791 - 1580863;6480464 18628982;16344560;15489334;12800150;12477932;10737800;8840187;1543912;8180135;19651619;19666573;19750484;20237496;21615933;17192395;21907864;19453521;22278742;22070912;22036096 2615 C9JYU3;Q14392 ABBA01017449;AK314971;AMYH01003821;AP001189;BC052210;BC070079;BI010671;CA775494;CH471076;DA591993;FB570994;NM_001128922;NM_005512;Z24680 AAH52210;AAH70079;CAA80847;CAR94995;EAW75001;EAW75002;NP_001122394;NP_005503;Q14392 Hs.151641 1677404;1731311;1769707;2148279;2150634;2185563 D11S356;D11S4584;D11S787;GARP;SGC30829;WI-19833 D11S833E;GARP OTTHUMP00000165067;OTTHUMP00000165068;OTTHUMP00000200860;garpin;glycoprotein A repetitions predominant;leucine-rich repeat-containing protein 32 APPROVED protein-coding ENSG00000137507 4161 00667 137207 REVIEWED 1604227 LRRC34 leucine rich repeat containing 34 3 3 3 q26.2 167909695 167929051 - 170993955 171013006 - 169511216 169530574 - 6480464 15489334;14702039;12477932;20379614;8889548 151827 B4DHF2;G3V115;H0YEZ4;Q8IZ02 ABBA01058704;AC078795;AK095125;AK130856;AK293661;AK295065;AK302466;AMYH01013642;BC028610;BC032841;BC040162;CH471052;CN479293;DB500348;NM_001172779;NM_001172780;NM_153353 AAH32841;BAG52989;BAG57108;BAG58113;BAG63756;EAW78537;EAW78538;EAW78539;EAW78540;EAW78541;EAW78542;NP_001166250;NP_001166251;NP_699184;Q8IZ02 Hs.591289 1648583;1675947;1700226;2184753;5022578 D1S1423;RH103730;RH47355;RH91874;STS-D59623 FLJ27346;MGC27085 OTTHUMP00000226659;OTTHUMP00000226660;OTTHUMP00000226661;leucine-rich repeat-containing protein 34 protein-coding ENSG00000171757 28408 14519 VALIDATED 2859971 LRRC37A11P leucine rich repeat containing 37, member A11, pseudogene 17 17 17 q12 33846995 33870286 + 34435877 34442169 + 37186159 37209458 + 6480464 12477932 342666 Q6ZUC2 ABBA01031886;AC091178;AK125814;AMYH01008373;BC111725;NR_033753 AAI11726;BAC86303;Q6ZUC2 Hs.129645 1334791;1336119 D17S1818;D17S250 FLJ43826;MGC133195 APPROVED pseudo ENSG00000214553 43815 13478 VALIDATED 1606382 LRRC37A6P leucine rich repeat containing 37, member A6, pseudogene 10 10 10 p12.1 27251213 27257666 - 27574788 27581241 - 27534782 27541235 - 387646 Q6ZT63 ABBA01034394;AK126872;AL160291;AMYH01002205;CH471072;NR_003525 BAC86731;EAW86057 Hs.631829 1675810 RH98463 FLJ44924 APPROVED pseudo ENSG00000230445 33746 17363 PROVISIONAL 6480403 LRRC37A7P leucine rich repeat containing 37, member A7, pseudogene 18 29304190 29305649 + 100421589 ABBA01022507;AC017100;AMYH01008925;NG_026286 pseudo 43792 INFERRED 6480587 LRRC37A8P leucine rich repeat containing 37, member A8, pseudogene 17 34233644 34238024 - 100533789 ABBA01011241;AC015849;AMYH01008361;NG_028731 pseudo 43793 INFERRED 6480586 LRRC37A9P leucine rich repeat containing 37, member A9, pseudogene 17 34238576 34241846 - 100533790 ABBA01011241;AC015849;AMYH01008361;NG_028732 pseudo 43813 INFERRED 6480580 LRRC37A16P leucine rich repeat containing 37, member A16, pseudogene 17 q24.2 66122557 66149006 - 12477932;14702039;16344560 651250 ABBA01028966;AC005332;NG_023507 1656315;1783490;2130895 RH47730;RH78289;SHGC-144152 pseudo 43820 INFERRED 1602023 LRRC37A2 leucine rich repeat containing 37, member A2 17 17 q21.31 41945392 41988330 + 44590076 44633014 + 16625196;14702039;12477932;22419166 474170 A6NM11;Q5YKG5 AC138645;AC138688;AC139677;AC217775;AK091733;AK126994;AMYH01008444;AW149940;AY386262;BC088375;BC144427;BC144428;BQ649697;NM_001006607 A6NM11;AAI44428;AAI44429;AAI72235;AAI72554;AAR28083;BAG52406;NP_001006608 Hs.646568 2151297;5015861;5016781;7185938 D10S16;SHGC-67307;STS-AA029927 FLJ45049 c114 SLIT-like testicular protein;leucine-rich repeat-containing protein 37A2 protein-coding ENSG00000238083 32404 14227 VALIDATED 1605100 LRRC37A leucine rich repeat containing 37A 17 17 q21.31 41728274 41770918 + 44372497 44415160 + 16344560;15533724;15489334;14702039;12477932;9628581;22419166 9884 A6NMS7;A8MUI5;E9PP10 ABBA01008166;ABBA01008167;AC005829;AC138688;AC139026;AC217777;AMYH01008442;AMYH01008443;BC040501;CR749232;DA397530;NM_014834 A6NMS7;AAH40501;CAH18088;NP_055649 Hs.579108 2151297 STS-AA029927 DKFZp686N1231;KIAA0563 OTTHUMP00000194770;OTTHUMP00000194771;OTTHUMP00000233379;leucine-rich repeat-containing protein 37A protein-coding ENSG00000176681 29069 14303 VALIDATED 1602879 LRRC37A4P leucine rich repeat containing 37, member A4, pseudogene 17 17 q21.31 40939890 40948305 - 43583249 43597889 - 6480464 14702039;12477932 55073 Q32Q44 ABBA01003970;AC091132;AC217769;AC217778;AK000982;AMYH01008442;BC041653;BC088374;BC107850;NR_002940;XR_159147 AAI07851;BAA91454 Hs.596756;Hs.646568 5126386 SHGC-34684 FLJ10120;KIAA0563;LRRC37A4;MGC111480 APPROVED pseudo 25479 07646 VALIDATED 1605801 LRRC37A3 leucine rich repeat containing 37, member A3 17 17 17 q24.1 57323675 57323949 - 60280950 60345365 - 62850488 62914903 - 6480464 15489334;14702039;12477932;9628581 374819 B4DSF2;F8W7X0;J3KT91;J3KT96;J3QKQ2;J3QL27;J3QTJ5;O60309 AB011135;ABBA01012343;AC103810;AK091625;AK294371;AK299714;AK308554;AK315945;AMYH01008564;AMYH01008565;AMYH01008566;AMYH01008567;AMYH01008568;AMYH01008569;BC043145;BC048966;BC113643;BC117274;NM_199340 AAH43145;AAI13644;AAI17275;BAA25489;BAC03710;BAG57631;BAG61614;BAH14316;NP_955372;O60309 Hs.551962 1851494;5020881 L17709;SHGC-57505 FLJ34306;KIAA0563;LRRC37A;MGC41826;MGC57168 leucine-rich repeat-containing protein 37A3 protein-coding ENSG00000176809 32427 PROVISIONAL 5131999 LRRC3C leucine rich repeat containing 3C 17 17 q12-q21.1 34757993 34761247 + 38097727 38100987 + 11181995;16625196;19820697 100505591 A6NJW4 ABBA01031852;AC090844;AMYH01008376;CH471152;DY655553;NM_001195545 A6NJW4;EAW60623;NP_001182474 Hs.145136 leucine-rich repeat-containing protein 3C;putative LRRC3-like protein ENSP00000367157 protein-coding ENSG00000204913 40034 VALIDATED 4108078 LRRC37A5P leucine rich repeat containing 37, member A5, pseudogene 9 9 9 q31.3 84864182 84874904 - 113404932 113415654 - 114365111 114375833 - 12477932;15164053;15489334 652972 Q49AS3 ABBA01042728;AL135787;AMYH01021642;BC031236;NR_034087 AAH31236;Q49AS3 Hs.551134 C9orf29;MGC39589 APPROVED miscrna ENSG00000204173 23369 VALIDATED 1602439 LRRC38 leucine rich repeat containing 38 1 1 1 p36.21 12283571 12322369 - 13673776 13716440 - 13801445 13840242 - 12477932 126755 Q5VT99 ABBA01017212;ABBA01017213;ABBA01017214;AL354712;AL603749;AMYH01000262;BC016048;CH471167;NM_001010847 AAH16048;EAW51689;NP_001010847;Q5VT99 Hs.657356 1666326 D1S2028E RP4-597A16.1 BK channel auxiliary gamma subunit LRRC38;BK channel auxilliary gamma subunit LRRC38;OTTHUMP00000009643;leucine-rich repeat-containing protein 38 protein-coding ENSG00000162494 27005 615212 VALIDATED 1606474 LRRC37B leucine rich repeat containing 37B 17 17 17 27268007 27296802 + 27372268 27404632 + 30348155 30380519 + 6480464 17632510;19291764;16625196;15236313;12477932;11468690;10843809;8889548;18029348;21906983;19322201;20881960 114659 F5H5K1;J3KTP0;J3QKM3;J3QL10;J3QLE7;J3QLI7;J3QSU1;Q17RC9;Q96QE4 ABBA01014939;ABBA01014940;ABBA01014941;AC090616;AJ314647;AK299772;AK302740;AK310287;AMYH01008327;AMYH01008328;AY386261;BC117373;BC143578;BC143581;BF979626;BM718301;NM_052888 AAI17374;AAI43582;AAR28082;ADR83284;BAG61655;BAG63955;CAC44536;NP_443120;Q96QE4 Hs.514071 1643776;1662179;1687972;5023455;5123733 A005R32;G20446;RH65739;RH91783;WI-12393 C66 SLIT-like testicular protein;OTTHUMP00000163674;leucine-rich repeat-containing protein 37B protein-coding ENSG00000185158 29070 14004 VALIDATED 2289765 LRRC37BP1 leucine rich repeat containing 37B pseudogene 1 17 17 17 q11.2 25765006 25804532 + 25927609 25988610 + 28903483 28964484 + 16344560;16303743;15236313;12477932;11181995;21906983 147172 ABBA01014994;ABBA01014995;ABBA01014996;ABBA01014997;ABBA01014998;ABBA01014999;ABBA01015000;AC005562;AC011840;AI420621;AK075282;AK124001;AK124759;AK125981;AL359623;AL713754;AMYH01008304;AMYH01008305;AMYH01008306;AMYH01008307;AMYH01008308;AMYH01008309;AMYH01008310;AMYH01008311;BC035414;BC042455;BC118647;CH471159;CQ783411;DB024747;NR_015341 BAC11518;BAG53991;BAG54091;CAD28527;CAF86615;EAW51242 Hs.568209 1335526;1340819;1643776;1662179;1680631;1684004;1687972;5015619;5020740;5022651;5024413;5037552;5123066 D11S2921;D11S3114;D17S1863;D2S313;D8S2279;L17809;L17877;RH46557;RH65739;RH78000;RH79618;RH91783;WI-12393 DKFZp667M2411;FLJ43993;LRRC37B2 putative LRRC37B-like protein 2 APPROVED pseudo 25390 13217 VALIDATED 1345434 LRRC3B leucine rich repeat containing 3B 3 3 3 p24 26600894 26688865 + 26639304 26727271 + 26664300 26752267 + 6480464 19240061;18815942;18757430;18377727;16381901;15489336;15489334;12975309;12477932;11076863;22889411;22101383;22321817 116135 C9J6A1;C9JMC7;Q96PB8 ABBA01025006;ABBA01025007;ABBA01025008;AC099754;AC114877;AF396933;AMYH01013042;AY358282;BC040656;BC067784;BC087849;CH471055;NM_052953 AAH40656;AAH67784;AAH87849;AAK84157;AAQ88649;CAL37719;CAL37871;CAL38040;CAL38081;CAL38282;CAL38323;CAL38499;CAL38694;EAW64373;EAW64374;NP_443185;Q96PB8 Hs.517868 1668451;1784652;2164533;2176698 SHGC-142117;SHGC-36389;SHGC-76784;WI-20503 LRP15;MGC102927 OTTHUMP00000161131;OTTHUMP00000208343;OTTHUMP00000208344;OTTHUMP00000209366;OTTHUMP00000209367;leucine-rich repeat protein LRP15;leucine-rich repeat-containing protein 3B protein-coding ENSG00000179796 28105 14318 PROVISIONAL 1606975 LRRC39 leucine rich repeat containing 39 1 1 1 p21.2 98871291 98900621 - 100386999 100416359 - 100614004 100643829 - 6480464 16710414;16381901;15489336;15489334;14702039;12975309;12477932;11076863;20379614;20847312 127495 Q96DD0 ABBA01045445;AK096892;AL445928;AL711357;AL833417;AMYH01000825;AW961910;AY358131;BC009613;BC022420;BX645870;CH471097;DB449006;N70864;NM_001256385;NM_001256386;NM_001256387;NM_144620 AAH09613;AAQ88498;ABM84416;ABM87433;BAG53394;CAL37579;CAL37984;EAW72965;EAW72966;EAW72967;EAW72968;EAW72969;NP_001243314;NP_001243315;NP_001243316;NP_653221;Q96DD0 Hs.44277;Hs.729095 1671101;1679692;1767493;1854972;2122479;2161654 RH26808;RH69486;SHGC-31027;SHGC-34523;SHGC-75218;SHGC-75223 DKFZp313O1122;MGC14816 OTTHUMP00000012531;OTTHUMP00000012587;densin hlg;leucine-rich repeat-containing protein 39 protein-coding 28228 17501 VALIDATED 1602639 LRRC43 leucine rich repeat containing 43 12 12 12 q24.31 122241514 122277364 + 121218219 121253971 + 122652266 122688018 + 6480464 16344560;12477932 254050 F5H0N3;Q8N309 ABBA01060479;ABBA01060480;AC048338;AK124107;AMYH01004825;BC029245;DA951767;NM_001098519;NM_152759 AAH29245;BAC85772;NP_001091989;NP_689972;Q8N309 Hs.374856 1720037 RH123813 MGC35140 OTTHUMP00000239739;leucine-rich repeat-containing protein 43 protein-coding ENSG00000158113 28562 14601 VALIDATED 1349330 LRRC4 leucine rich repeat containing 4 This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008] 7 7 q31.3 127454360 127458238 - 127667124 127671002 - 1580863;6480464 12690205;18976507;17541939;16941076;16723503;16215635;16188120;16077900;15967442;15489334;14702039;14595443;12975309;12969517;12477932;10964959;8889548;21809374;22779921;21435336;22834685 64101 C9J7K7;C9J7V8;C9JA92;Q9HBW1 AACC02000001;ABBA01057681;AC008039;AF196976;AI568859;AJ297858;AK172751;AK314047;AMYH01017914;AY358307;BC036685;BC111561;BC111745;BU682120;CH236947;CH471070;NM_022143 AAG28019;AAI11562;AAI11746;AAQ88674;BAD18737;BAG36756;CAC82651;EAL24316;EAW83639;NP_071426;Q9HBW1 Hs.655003 1651485;1769786;2138862 GDB:4585141;RH47485;STS-H23117 MGC133342;MGC133343;NAG14;NGL-2 OTTHUMP00000212281;OTTHUMP00000212282;OTTHUMP00000212283;OTTHUMP00000212284;brain tumor associated protein LRRC4;brain tumor-associated protein BAG;leucine-rich repeat-containing 4;leucine-rich repeat-containing protein 4;nasopharyngeal carcinoma-associated gene 14 protein;netrin-G2 ligand APPROVED protein-coding ENSG00000128594 15586 10060 610486 VALIDATED 1601993 LRRC40 leucine rich repeat containing 40 1 1 1 p31.1 68900426 68961308 - 70383085 70443863 - 70610485 70671361 - 6480464 16710414;15489334;14702039;12477932;8125298;16344560;17643375;22939629;21139048;21890473;21906983;22053931 55631 Q9H9A6 ABBA01074488;ABBA01074489;AI015897;AK000338;AK022951;AK225337;AL162076;AL353771;AMYH01000699;BC003407;BC008586;CH471059;DA310461;NM_017768 AAH03407;AAH08586;ADZ15560;BAA91094;BAB14326;CAB82410;EAX06460;NP_060238;Q9H9A6 Hs.147836 1334854;1337628;1673815;7186790 D1S2798;D1S462;WI-15590 FLJ20331;RP4-677H15.1;dJ677H15.1 OTTHUMP00000010944;leucine-rich repeat-containing protein 40 protein-coding ENSG00000066557 26004 08622 VALIDATED 1604548 LRRC42 leucine rich repeat containing 42 1 1 1 p33-p32.1 52699725 52721528 + 54184625 54206427 + 54411999 54433841 + 6480464 21145461;16303743;15489334;14702039;12477932;17207965;21832049;22939629;8889548;21139048;21906983 115353 A6NL66;E7EP35;Q9Y546 ABBA01074729;AK074521;AK075201;AK090881;AK095767;AL031427;AMYH01000632;BC013101;CB851494;CH471059;CQ783291;CX783955;NM_001256409;NM_052940 AAH13101;ADQ31754;BAC11038;BAC11466;CAF86501;EAX06713;EAX06714;EAX06715;EAX06716;NP_001243338;NP_443172;Q9Y546 Hs.40094 2107393;2170440 HUM000S154;MGC8974__7731 MGC8974;dJ167A19.4 OTTHUMP00000010107;OTTHUMP00000010108;leucine-rich repeat-containing protein 42 protein-coding ENSG00000116212 28792 14711 VALIDATED 1604206 LRRC45 leucine rich repeat containing 45 17 17 q25.3 77574569 77582316 + 79981280 79989027 + 6480464 15489334;12477932;22939629;21139048 201255 J3KTD4;Q96CN5 ABBA01019660;AC137723;AMYH01008726;BC014109;NM_144999 AAH14109;ADZ15347;NP_659436;Q96CN5 Hs.143774 1762803 SHGC-146582 MGC20806 leucine-rich repeat-containing protein 45 protein-coding ENSG00000169683 28302 14476 PROVISIONAL 1607070 LRRC41 leucine rich repeat containing 41 1 1 1 p34.1 45031452 45056418 - 46516659 46541625 - 46744072 46769038 - 6480464 17081983;16498413;16189514;15498874;15489334;14702039;12477932;11384984;8889548;8125298;16169070;21145461;22990118;18187417;21139048;21890473;21906983;21963094;22505724 10489 Q15345 ABBA01050841;AF370430;AK024051;AK125827;AK223420;AK291283;AK296436;AK297596;AL121602;AL122001;AMYH01000586;BC004953;BC092479;BC101522;BC101524;BM548142;BU155079;BX537366;CF125098;CH471059;NM_006369;X86018 AAH04953;AAH92479;AAI01523;AAI01525;AAQ15266;BAB14801;BAC86308;BAD97140;BAF83972;BAG59091;BAG59981;CAA60013;CAD97609;EAX06927;EAX06928;NP_006360;Q15345 Hs.144941 1848897;2109733;2117603;2124723;2153360;5020946 L17971;RAD54L_8807;RH47045;RH70932;RH70950;SHGC-74777 MGC126571;MGC126573;MUF1;PP7759;RP4-636H5.2 MUF1 protein (MUF1);OTTHUMP00000009479;elongin BC-interacting leucine-rich repeat protein;leucine-rich repeat-containing protein 41;protein Muf1 protein-coding ENSG00000132128 16917 10102 VALIDATED 1602198 LRRC46 leucine rich repeat containing 46 17 17 17 q21.32 42361797 42367883 + 43264099 43269692 + 45908993 45915079 + 6480464 15489334;12477932;17207965;16344560;8889548 90506 A8K9Q0;J3KSP7;J3QQW4;Q96FV0 ABBA01041146;AC003665;AK027206;AK292765;AK315665;AMYH01008451;BC010412;BM663857;CH471109;DB024018;NM_033413 AAH10412;ADQ32356;BAF85454;BAG38031;EAW94793;EAW94794;NP_219481;Q96FV0 Hs.130767 1652222 WI-16780 FLJ23553;MGC16309 leucine-rich repeat-containing protein 46 protein-coding ENSG00000141294 25047 08320 VALIDATED 2292704 LRRC53 leucine rich repeat containing 53 p31.3 16710414;11181995 100144878 A6NM62 AC105271;CH471059 A6NM62;EAX06416 leucine rich repeat containing 53 protein-coding 25255 1603205 LRRC47 leucine rich repeat containing 47 1 1 1 p36.32 2950824 2967113 - 3686644 3702928 - 3696784 3713068 - 6480464 17081983;16710414;15489334;12477932;10574461;21145461;22586326;19615732;22863883;22939629;19322201;21139048;22589738;22190034 57470 J3KRP5;Q8N1G4 AB033011;ABBA01073652;ABBA01073653;AL365330;AMYH01000192;BC012300;BC031301;CH471130;NM_020710 AAH31301;BAA86499;EAW71478;EAW71479;NP_065761;Q8N1G4 Hs.268488 1646477;1656327;5015619;5037552;5093632 A009U07;D11S3114;D8S2279;G32833;SHGC-74134 KIAA1185;RP1-286D6.3 OTTHUMP00000003589;leucine-rich repeat-containing protein 47 protein-coding ENSG00000130764 29207 13837 VALIDATED 1606494 LRRC48 leucine rich repeat containing 48 17 17 17 p11.2 18816897 18861264 + 17816924 17860898 + 17876127 17920203 + 6480464 11256614;16381901;16344560;15489336;15489334;14702039;12477932;11997338;11840190;11230166;11076863;20379614;23354437 83450 B3KSC6;J3KRB8;J3KRN8;J3QR90;J3QRC9;J3QRH8;J3QS14;J3QSG4;K7EJT6;Q9H069 ABBA01009742;ABBA01009743;AC087163;AK093317;AK293011;AL136926;AMYH01008162;AMYH01008163;BC040276;BC047873;BC050419;BC050665;CH471196;DB032678;NM_001130090;NM_001130091;NM_001130092;NM_031294 AAH40276;AAH47873;AAH50419;AAH50665;BAF85700;BAG52688;CAB66860;CAL37611;CAL37643;EAW55681;EAW55682;EAW55683;NP_001123562;NP_001123563;NP_001123564;NP_112584;Q9H069 Hs.579264 1665009;1775977;1857734;2132144;2157224;2166655 RH11962;RH12043;RH68538;RH78106;SHGC-30411;WI-20708 DKFZp586M1120 OTTHUMP00000065661;OTTHUMP00000065662;OTTHUMP00000065663;leucine-rich repeat-containing protein 48 protein-coding ENSG00000171962 25384 13181 VALIDATED 1603449 LRRC52 leucine rich repeat containing 52 1 1 1 q24.1 138618739 138638444 + 163779868 163799822 + 165513478 165533185 + 6480464 19536175;19064610;16710414;14702039;12477932 440699 Q8N7C0 AA725678;ABBA01047282;AK098677;AL157714;AMYH01001469;BC132981;BC132983;NM_001005214 AAI32982;AAI32984;BAC05375;NP_001005214;Q8N7C0 Hs.664975 1683188;2169251 D1S2197;RH99273 FLJ25811 BK channel auxiliary gamma subunit LRRC52;BK channel auxilliary gamma subunit LRRC52;OTTHUMP00000032565;leucine-rich repeat-containing protein 52 protein-coding ENSG00000162763 32156 13396 615218 VALIDATED 1316128 LRRC4B leucine rich repeat containing 4B 19 19 19 q13.33 48071474 48122624 - 55711961 55763114 - 51020149 51071302 - 1580863;6480464 12477932;15489334;15057824;11441184 94030 M0R2G0;Q9NT99 ABBA01068315;ABBA01068316;ABBA01068317;ABBA01068318;AC008743;AL137451;AMYH01009940;BC019687;BC032460;BC056207;BC131897;CH471135;CS083253;NM_001080457 AAH19687;AAH32460;AAH56207;AAI31898;AAI56080;AAI72459;CAB70743;CAI96013;EAW71884;EAW71885;EAW71886;NP_001073926;Q9NT99 Hs.120873 1335307 D19S907 DKFZp761A179;HSM;LRIG4 NGL-3;leucine-rich repeat-containing protein 4B;leucine-rich repeats and immunoglobulin-like domains 4;netrin-G3 ligand protein-coding ENSG00000131409 25042 PROVISIONAL 1603880 LRRC55 leucine rich repeat containing 55 11 11 11 q12.1 54308169 54318131 + 56705797 56714154 + 56949221 56959188 + 6480464 15340161;14702039;12477932;20379614 219527 Q6ZSA7 ABBA01021468;AK023401;AK127591;AL832845;AMYH01003651;AP001786;BC136737;BC136739;BC150572;CH471076;NM_001005210 AAI36738;AAI36740;AAI50573;BAC87047;EAW73729;NP_001005210;Q6ZSA7 Hs.199853 1755723 SHGC-142571 DKFZp667D0425;FLJ13339;FLJ45686 BK channel auxiliary gamma subunit LRRC55;BK channel auxilliary gamma snit LRRC55;OTTHUMP00000214782;leucine-rich repeat-containing protein 55 protein-coding ENSG00000183908 32324 16990 615213 VALIDATED 1605967 LRRC4C leucine rich repeat containing 4C NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008] 11 11 11 p12 40289300 40469240 - 40092329 40272240 - 40135749 41481186 - 6480464 14595443;15489334;12975309;12477932;10997877;15590698;20029409;20379614;20548944;16344560;22365631;21988832;23382691;21107309 57689 E9PLP4;Q4JIV9;Q4JIW0;Q9HCJ2 AB046800;ABBA01060801;ABBA01060802;ABBA01060803;ABBA01060804;ABBA01060805;ABBA01060806;ABBA01060807;ABBA01060808;ABBA01060809;ABBA01060810;ABBA01060811;AC013488;AC016845;AC018951;AC021824;AC023943;AC025069;AC080100;AC090138;AC090720;AC104235;AC104387;AC116015;AI806109;AK289646;AMYH01003515;AMYH01003516;AMYH01003517;AY358293;BC041374;BX951676;CH471064;DA387604;DQ084201;DQ084202;NM_001258419;NM_020929;NR_047673;NR_047674 AAH41374;AAQ88660;AAY86708;AAY86709;BAB13406;BAF82335;EAW68107;NP_001245348;NP_065980;Q9HCJ2 Hs.745123 1334599;1335111;1722785;1750163;1756065;2219178;5492287 D11S1360;D11S4173;G60334;Lrrc4c;NGL-1__6051;SHGC-112280;SHGC-142869 KIAA1580;NGL-1;NGL1 OTTHUMP00000232761;leucine-rich repeat-containing protein 4C;netrin-G1 ligand APPROVED protein-coding ENSG00000148948 29317 12303 608817 VALIDATED 1606554 LRRC49 leucine rich repeat containing 49 15 15 15 q23 48075878 48233321 + 68972041 69129490 + 71184928 71342436 + 6480464 12477932;18575747;15489334;14702039;8889548;8125298;21906983 54839 B7Z7G0;F5H1J4;H0YKE9;H0YKI5;H0YKQ0;H0YKS7;H0YLQ8;H0YLZ6;H0YM43;H0YMT2;H0YMZ6;H0YNI5;H0YNV5;H3BNA9;Q8IUZ0 ABBA01038750;AC013752;AC084703;AC090868;AK000163;AK097752;AK123672;AK125732;AK225137;AK295547;AK301971;AMYH01006749;BC026157;BC037982;BM662008;BM979547;CH471082;NM_001199017;NM_001199018;NM_017691 AAH37982;BAA90984;BAG53524;BAG53933;BAH12102;BAH13596;EAW77864;EAW77865;EAW77866;EAW77867;NP_001185946;NP_001185947;NP_060161;Q8IUZ0 Hs.12692 1338409;1677176;1680433;2152800;2170977;2174145;5109281 D15S131;D15S914;D1S1425;HSC26A052;RH93029;SHGC-3419;WI-12203 FLJ20156 PGs4;leucine-rich repeat-containing protein 49;tubulin polyglutamylase complex subunit 4 protein-coding ENSG00000137821 25965 07880 VALIDATED 1604970 LRRC63 leucine rich repeat containing 63 13 13 13 q14.13 27841088 27905853 + 45684084 45739112 + 46786083 46841111 + 6480464 12477932;17903304 220416 J3KQU2;M0QXR7;Q05C16 ABBA01050984;ABBA01050985;AL137141;AL139801;AMYH01005093;BC030276;CH471075;XM_003403513;XM_003403659;XM_003960535 AAH30276;EAX08759;EAX08760;EAX08761;Q05C16;XP_003403561;XP_003403707;XP_003960584 Hs.267765 2111516 D13S1495 OTTHUMP00000018363;RP11-139H14.4;leucine-rich repeat-containing protein 63 protein-coding ENSG00000173988 34296 18580 MODEL 1602410 LRRC66 leucine rich repeat containing 66 4 4 4 q12 50354945 50381556 - 52554621 52581234 - 52859864 52886477 - 6480464 12477932 339977 Q68CR7 ABBA01003374;AC093858;AC104784;AMYH01014173;BC040414;CR749811;NM_001024611 CAH18671;NP_001019782;Q68CR7 Hs.661450 1674669;1718233;1725453;1778936;2143428 D4S2486E;RH119122;RH122886;SHGC-50265;STS-W81563 OTTHUMP00000218615;leucine-rich repeat-containing protein 66 protein-coding ENSG00000188993 34299 18593 PROVISIONAL 1604547 LRRC56 leucine rich repeat containing 56 11 11 11 p15.5 599982 617257 + 527527 544916 + 537522 554916 + 6480464 15489334;14702039;12477932 115399 Q8IYG6;Q9H7I5 ABBA01015192;AC137894;AK024495;AL831961;AMYH01003287;AP006284;BC016439;BC035936;BC035937;CH471158;NM_198075 AAH16439;AAH35937;BAB15785;CAD38603;EAX02342;EAX02343;EAX02344;NP_932341;Q8IYG6 Hs.567655 1693542;1757861;1757863 SHGC-146715;SHGC-146716;SHGC-58456 DKFZp761L1518;FLJ00101 OTTHUMP00000162846;leucine-rich repeat-containing protein 56 protein-coding ENSG00000161328 25430 13227 VALIDATED 1606179 LRRC58 leucine rich repeat containing 58 3 3 3 q13.33 118452974 118477585 - 121526266 121550876 - 120043576 120068186 - 6480464 16381901;15489336;14702039;12477932;22566634;11076863;21139048;21890473;21906983;21963094;21987572;22174851;22505724 116064 Q96CX6 ABBA01061566;AC063952;AK056809;AMYH01013421;BC013757;CH471052;NM_001099678 AAH13757;CAL38114;EAW79529;NP_001093148;Q96CX6 Hs.518084 1775701;1777846;5015322;5015619;5022578;5037552 D10S512;D11S3114;D1S1423;D8S2279;RH36137;SHGC-77231 OTTHUMP00000215179;leucine-rich repeat-containing protein 58 protein-coding ENSG00000163428 26968 VALIDATED 1351490 LRRC6 leucine rich repeat containing 6 The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Dec 2012] 8 8 8 q24.22 129759252 129862622 - 133653629 133756995 - 133584447 133687813 - 6480464 15489334;12477932;11329013;10775177;15831481;19395640;20215474;23122589;23122586 23639 E5RHF9;G5EA20;H0YAS5;H0YBC4;Q86X45 ABBA01014205;ABBA01014206;ABBA01014207;AF216667;AK313107;AMYH01019036;AMYH01019037;BC027589;BC047286;BG204280;CH471060;DA310108;NG_033068;NM_012472;NR_073525 AAH27589;AAH47286;EAW92143;EAW92144;NP_036604;Q86X45 Hs.591865 2132217;2155095 RH70686;STS-T91224 CILD19;LRTP;TSLRP OTTHUMP00000227142;OTTHUMP00000227144;leucine rich testes protein;leucine-rich repeat-containing protein 6;leucine-rich testis-specific protein;protein TILB homolog;testis specific leucine rich repeat protein;testis-specific leucine-rich repeat protein protein-coding ENSG00000129295 16725 10286 614930;614935 REVIEWED 1602825 LRRC57 leucine rich repeat containing 57 15 15 15 q15.2 19602426 19608708 - 40622014 40628292 - 42834720 42841002 - 6480464 16344560;15489334;15146197;14702039;12477932;17207965;22939629;21139048;21890473;21906983;22505724 255252 H3BSW0;Q8N9N7 ABBA01038368;AC018362;AF087994;AK094131;AK094891;AK309861;AMYH01006582;BC051262;BC058935;BE301068;BQ130124;BX538324;CH471125;CN350663;CR749223;DA749946;NM_153260 AAH58935;ADQ32576;BAC04294;BAC04451;CAD98097;CAH18079;EAW92560;EAW92561;EAW92562;EAW92563;EAW92564;EAW92565;NP_694992;Q8N9N7 Hs.234681 2130224;5015961;5022450;5037552 D10S275;D15S1477;D8S2279;STS-N20577 DKFZp686H1865;FLJ36812 OTTHUMP00000161266;leucine-rich repeat-containing protein 57 protein-coding ENSG00000180979 26719 08212 VALIDATED 5508492 LRRC72 leucine rich repeat containing 72 7 p21.1 16566505 16621114 + 12853948;20379614;9847074 100506049 A6NJI9;F8VSY1 AACC02000008;ABBA01056629;ABBA01056630;AC005014;AMYH01017092;AW341438;BF222754;CH236948;DT932641;DT932642;NM_001195280 A6NJI9;NP_001182209 Hs.278036 OTTHUMP00000201685;leucine-rich repeat-containing protein 72;leucine-rich repeat-containing protein ENSP00000371558 protein-coding ENSG00000205858 42972 VALIDATED 1605059 LRRC59 leucine rich repeat containing 59 17 17 17 q21.33 44919883 44936207 - 45813598 45829831 - 48458594 48474914 - 6480464 21832049;22939629;17353931;18063578;15489334;12665801;12477932;22321063;16751776;16344560;16541025;17215244;19615732;19710015;8889548;18029348;20848231;22178446;21139048;21890473;21906983;21907836;17361185;21145461;22505724 55379 I3L223;I3L2E8;Q96AG4 ABBA01041239;ABBA01041240;AC004707;AF119857;AK025328;AK130572;AK316593;AMYH01008471;BC017168;BC033695;BC052279;BM664133;CH471109;DA782636;DQ579028;NM_018509 AAF69611;AAH17168;AAH52279;ABM83301;ABM86515;BAG38180;EAW94615;EAW94616;NP_060979;Q96AG4 Hs.370927 1725759;1774306;2107047;2133631;2133633;2143934;2146576;2183388 A006I13;EME1__7583;G09433;G20838;G62125;RH48149;SGC32559;WI-11424 FLJ21675;PRO1855;p34 OTTHUMP00000221187;OTTHUMP00000221216;leucine-rich repeat-containing protein 59;ribosome-binding protein p34 protein-coding ENSG00000108829 28817 15181 614854 VALIDATED 1349743 LRRC7 leucine rich repeat containing 7 1 1 1 p31.1 68515739 68879117 + 69998446 70361759 + 70225858 70589171 + 1580863;6480464;7240705 22717267 8824323;15767459;17353931;18029348;17968527;17581699;17039495;16741999;16710414;16120608;12819232;12525888;12390249;11729199;11160423;10718198;12477932;20379614;22072671;21784300;21610080;22322875;22419666;23251661 57554 B1AKT2;F8WE45;K7ELH5;Q96NW7 AB037786;ABBA01074489;ABBA01074490;ABBA01074491;ABBA01074492;ABBA01074493;AF434715;AF498274;AL157948;AL158840;AL359412;AL391728;AMYH01000699;BC128989;CH471059;CR749629;NM_020794 AAI28990;AAL28133;AAP06801;BAA92603;CAH18423;EAX06461;EAX06462;EAX06463;EAX06464;EAX06465;NP_065845;Q96NW7 Hs.479658 1654127;1671054;1691878;1692116;1692538;1700942;2109653;2113686;2117749;2122489;2128420;2154252;2170398;2174382;2190911;5111234 A006P38;AB047969;AL009998;AL033698;AL033922;AL033992;D1S1886E;D1S2489;D1S3046;G09705;MARC_11455-11456:1000490363:1;PIN1L__6997;RH104098;RH78155;SHGC-30900;SHGC-75056 DENSIN;DKFZp686I1147;KIAA1365;MGC144918 OTTHUMP00000065336;OTTHUMP00000065337;densin-180;leucine-rich repeat-containing protein 7 protein-coding ENSG00000033122 18531 09930 614453 VALIDATED 2293909 LRRC69 leucine rich repeat containing 69 8 8 8 q21.3 88309873 88425524 + 92184066 92206187 + 92114847 92231464 + 14702039;12477932;20972266 100130742 E5RHQ9;E5RJ66;Q6ZNQ3 ABBA01037416;ABBA01037417;AC087439;AC104966;AC104967;AK097393;AK130865;AMYH01018875;AMYH01018876;CH471060;NM_001129890 BAC85448;EAW91678;NP_001123362;Q6ZNQ3 Hs.733070 1745555;1745557;1745561;1745563;1745565;1745567;1745569;1755783;1786686;1849047 D3S3906;GDB:624444;GDB:624447;GDB:624453;GDB:624457;GDB:624463;GDB:624469;GDB:624472;SHGC-142626;SHGC-154077 MGC104559 OTTHUMP00000246886;leucine-rich repeat-containing protein 69 protein-coding 34303 PROVISIONAL 1602102 LRRC61 leucine rich repeat containing 61 7 7 7 q31-q35 144577385 144592335 + 149651538 149666172 + 150020296 150035245 + 6480464 16344560;15489334;14702039;12853948;12690205;12477932;17207965 65999 Q9BV99;Q9P087 AACC02000108;ABBA01035192;AC005586;AF161413;AK025869;AK055954;AK093915;AK098061;AMYH01018138;AW444958;BC001354;CH471173;DB001467;NM_001142928;NM_023942 AAF28973;AAH01354;AAS00383;ADQ31611;BAG51597;BAG52784;BAG53572;EAL24472;EAW54123;EAW54124;EAW54125;NP_001136400;NP_076431;Q9BV99 Hs.647119 1775212;1856543;2145972 GDB:4585543;RH18192;SGC34814 FLJ22216;FLJ31392;HSPC295;MGC3036 OTTHUMP00000212801;OTTHUMP00000212802;OTTHUMP00000212803;leucine-rich repeat-containing protein 61 protein-coding ENSG00000127399 21704 08326 VALIDATED 2302535 LRRC70 leucine rich repeat containing 70 5 5 5 q12.1 58871496 58874209 + 61909337 61913031 + 61874562 61877275 + 6480464 14702039;12975309;12767927;12477932;11181995;22505724 100130733 D6RD14;Q7Z2Q7 ABBA01048360;AC114982;AK123022;AMYH01015119;AY280614;AY358733;BC067275;BC110838;BF511602;CH471137;CS161380;FJ695194;NM_181506 AAP36706;AAQ89095;BAC85517;CAJ30881;EAW51382;NP_852607;Q7Z2Q7 Hs.721348 2109861 SLRN__6857 DKFZp686E10165;FLJ41026;SLRN OTTHUMP00000221872;leucine-rich repeat-containing protein 70;synleurin protein-coding ENSG00000186105 35155 VALIDATED 1601719 LRRC71 leucine rich repeat containing 71 1 1 1 q23.1 129961654 129974111 + 155157324 155169504 + 156890424 156902880 + 6480464 14702039;12477932;8889548 149499 A8K8H7;Q8N4P6 ABBA01016641;AK057446;AK292342;AL356104;AMYH01001441;BC033790;BU689904;CH471121;NM_144702 AAH33790;BAB71490;BAF85031;EAW52895;EAW52896;EAW52897;EAW52898;NP_653303;Q8N4P6 Hs.491734 2119018 RH47680 C1orf92;FLJ32884;FLJ77598;MGC45468;RP11-356J7.1 OTTHUMP00000038729;leucine-rich repeat-containing protein 71;leucine-rich repeat-containing protein C10orf92 APPROVED protein-coding ENSG00000160838 26556 08737 VALIDATED 1603492 LRRC9 leucine rich repeat containing 9 14 14 14 q23.1 40435670 40579626 + 59456620 59599833 + 60386431 60530277 + 6480464 341883 H3BUB1;H3BUS4;Q6ZRR7 ABBA01018275;ABBA01018276;ABBA01018277;ABBA01018278;AK128037;AL133299;AL157911;AMYH01005765;AMYH01005766;NR_075071;XR_110295;XR_111430;XR_172043 BAC87242;Q6ZRR7 Hs.666245 1646884;1646886;1672742;1690888;1699882;1718889;2114643 A005A34;D14S1159;G20222;RH103549;RH123150;RH80977;STS-Z41154 FLJ46156 pseudo ENSG00000131951 19848 13525 VALIDATED 1346466 LRRC73 leucine rich repeat containing 73 6 6 6 p21.1 45026328 45030045 - 43582685 43586402 - 43474707 43478424 - 6480464 15489334;14574404;12477932 221424 Q3B825;Q5JTD7 ABBA01050680;AK126786;AL355802;AMYH01016314;BC107130;BC108661;CH471081;HY024930;NM_001012974;NM_001271882 AAI07131;AAI08662;BAG54373;EAX04202;NP_001012992;NP_001258811;Q5JTD7 Hs.445552 2154952;2159452;2186339 D6S2069;RH46607;STS-D29507 C6orf154;FLJ44836;MGC131686;dJ337H4.2 OTTHUMP00000016460;hypothetical protein LOC221424;leucine-rich repeat-containing protein 73;uncharacterized protein C6orf154 APPROVED protein-coding ENSG00000204052 21375 10167 VALIDATED 1606820 LRRC8B leucine rich repeat containing 8 family, member B 1 1 1 p22.2 88236130 88309141 + 89796860 89831803 + 89990397 90063420 + 6480464 15489334;15094057;12975309;12477932;9039502;7829101;20379614 23507 C9JGJ7;Q6P9F7 ABBA01045587;AC099569;AF385436;AMYH01000778;AW022123;AY358112;AY640232;BC030607;BC035081;BC037831;BC053565;BC060782;BI459217;CH471097;D86984;NM_001134476;NM_015350 AAH30607;AAH37831;AAH60782;AAM43837;AAQ88479;AAU14245;BAA13220;EAW73137;EAW73138;NP_001127948;NP_056165;Q6P9F7 Hs.482017;Hs.741594 1660745;1663527;1771536;1781530;1798238;2114796;2171593;2171595;2187144;5017170;5109281 A001X03;Cda0pe09;D1S1425;D1S1575;D1S2373;G19735;L29953;RH25437;SHGC-142702;TA-LRRP_2565;WI-15594 KIAA0231;MGC42220;TA-LRRP;TALRRP OTTHUMP00000011820;T cell activation leucine repeat rich protein;T-cell activation leucine repeat-rich protein;leucine-rich repeat-containing protein 8B protein-coding ENSG00000197147 30692 18145 612888 VALIDATED 1320026 LRRC8D leucine rich repeat containing 8 family, member D 1 1 1 p22.2 88532275 88647680 + 90060101 90174148 + 90286573 90401991 + 6480464 15231747;16710414;16344560;15489334;15342556;15094057;14702039;12975309;12477932;9110174;8619474;8125298;21832049;21555518 55144 B3KRU1;E9PJ89;E9PJS7;E9PL08;E9PMF9;Q5VWA0;Q7L1W4;Q96GG5 ABBA01045585;ABBA01045586;AC099568;AI671275;AK001332;AK092238;AK222787;AL391497;AL831880;AL832952;AMYH01000780;AY007147;AY358874;BC009486;BC024159;BP283613;BX093623;CH471097;DA126452;DB097950;NM_001134479;NM_018103 AAH09486;AAH24159;AAQ89233;BAA91631;BAD96507;BAG52503;CAH56273;CAH56285;EAW73130;EAW73131;EAW73132;NP_001127951;NP_060573;Q7L1W4 Hs.482087 1711974;1748717;1750251;1771915;2109485 LRRC5_9879;RH118438;SHGC-110361;SHGC-112470;SHGC-75120 FLJ10470;FLJ20403;LRRC5 OTTHUMP00000012307;OTTHUMP00000012308;OTTHUMP00000012395;OTTHUMP00000231587;leucine rich repeat containing 5;leucine-rich repeat-containing 5;leucine-rich repeat-containing protein 5;leucine-rich repeat-containing protein 8D protein-coding ENSG00000171492 16992 11287 612890 VALIDATED 4890229 LRRFIP1P1 leucine rich repeat (in FLII) interacting protein 1 pseudogene 1 3 q27 178975505 178979109 + 101290506 AC007823;NG_033175 pseudo ENSG00000240429 32937 INFERRED 1323279 LRRC8A leucine rich repeat containing 8 family, member A This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 102296285 102332152 + 130684268 130720136 + 131644391 131680318 + 1599837;6480464;7240710 14660746 17081983;16344560;16303743;15489334;15183935;15164053;15094057;14702039;14660738;12975309;12477932;10718198;22939629;21139048;21890473;19322201 56262 A8K1C7;Q8IWT6 AB037858;ABBA01043907;ABBA01043908;AK001199;AK024649;AK027495;AK074723;AK123611;AK289842;AL672142;AMYH01021753;AY143166;AY358286;BC000775;BC051322;BX376144;CA446287;CH471090;DA243590;NG_009630;NM_001127244;NM_001127245;NM_019594 AAH51322;AAN18279;AAQ88653;BAA91549;BAA92675;BAB55153;BAC11161;BAF82531;EAW87842;EAW87843;NP_001120716;NP_001120717;NP_062540;Q8IWT6 Hs.643600 1698830;1852279;1855848;5107094 D13S1783;RH102979;SGC34869;STS-D29325 AGM5;FLJ10337;FLJ41617;KIAA1437;LRRC8 OTTHUMP00000022308;OTTHUMP00000022309;leucine rich repeat containing 8;leucine-rich repeat-containing protein 8A APPROVED protein-coding ENSG00000136802 19027 608360;613506 REVIEWED 1604274 LRRC8C leucine rich repeat containing 8 family, member C 1 1 1 p22.2 88344351 88430780 + 89871350 89953169 + 90098644 90185094 + 6480464 15489334;15184384;15094057;14702039;12477932;11230166;20379614;21139048;21890473;21906983 84230 A6NED7;E9PHY6;Q8TDW0 AB081509;ABBA01045586;AC093423;AC099569;AI014679;AK094804;AK127881;AL136919;AL699030;AMYH01000778;BC036122;BC103929;BC113973;CH471097;HI574124;NM_032270 AAH36122;AAI13974;BAB86303;BAG54591;CAB66853;CBX47551;EAW73134;NP_115646;Q8TDW0 Hs.412836 1685578;1698788;1775024;1848843;2122665;2159801;2218180 AD158__4251;AFMa205xd5;D5S2885;RH102957;RH99276;SHGC-63626;SHGC-75116 AD158;DKFZp586J1119;FAD158;MGC138551 OTTHUMP00000011964;factor for adipocyte differentiation 158;hypothetical protein AD158;leucine rich repeat containing 8C;leucine-rich repeat-containing protein 8C protein-coding ENSG00000171488 25075 13284 612889 VALIDATED 5132687 LRRD1 leucine-rich repeats and death domain containing 1 7 7 q21.2 86478757 86499146 - 91774198 91794590 - 12477932;14702039 401387 A4D1F6;C9IYX3;C9K0I1 AACC02000014;ABBA01045808;ABBA01045809;ABBA01045810;ABBA01045811;AC000120;AMYH01017689;BC026112;BC144674;BC144678;CH236949;NM_001161528 A4D1F6;AAH26112;AAI44675;AAI44679;EAL24153;NP_001155000 Hs.671729 1691790;1712052;5037552 D8S2279;G42253;G54006 FLJ34004;MGC178225;MGC178229 OTTHUMP00000208799;leucine-rich repeat and death domain-containing protein;leucine-rich repeat and death domain-containing protein 1;leucine-rich repeat and death domain-containing protein LOC401387 protein-coding ENSG00000240720 34300 VALIDATED 1604564 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 8 8 8 q21.2 82024953 82063634 + 86206629 86245567 + 86019323 86058315 + 6480464 18728398;16344560;14702039;12477932;11214970;18029348;16169070;21890473 85444 B4DTJ0;E5RGA4;E5RI08;Q9C099 AA000990;AB051551;ABBA01004013;ABBA01004014;ABBA01004015;AC011773;AC083962;AK056185;AK057990;AK300234;AK300874;AK302648;AK307350;AK307443;AK307636;AMYH01018833;AMYH01018834;BC030701;BC070092;BR000818;CH471068;DA412089;DB458600;NM_033402 AAH30701;BAB21855;BAB71115;BAB71626;BAG62002;BAG62518;BAG63888;EAW87120;EAW87121;FAA00427;NP_208325;Q9C099 Hs.193115 Clerc;KIAA1764;SAP2;VFL1 OTTHUMP00000227499;OTTHUMP00000227504;centrosomal leucine-rich repeat and coiled-coil containing protein;centrosomal leucine-rich repeat and coiled-coil domain-containing protein;leucine rich repeat and coiled-coil domain containing 1;leucine-rich repeat and coiled-coil domain-containing protein 1;sodium channel associated protein 2;variable number of flagella 1 homolog APPROVED protein-coding ENSG00000133739 29373 11160 VALIDATED 1604796 LRRC8E leucine rich repeat containing 8 family, member E This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 19 19 19 p13.2 7824591 7838110 + 7859390 7872907 + 7953390 7966908 + 6480464 16381901;15489336;15489334;15094057;14702039;12477932;11230166;11076863;16344560;21139048;21906983 80131 M0QZ48;M0R2D8;M0R2K8;M0R3C1;Q6NSJ5 ABBA01010878;ABBA01010879;AC010336;AK027073;AK091134;AL834474;AMYH01009416;BC022216;BC070089;BC108252;BX538180;CB049178;CD109368;CF593782;CH471139;DA447942;NM_001268284;NM_001268285;NM_025061 AAH22216;AAH70089;AAI08253;BAB15648;BAG52290;CAD39133;CAL38392;EAW68969;NP_001255213;NP_001255214;NP_079337;Q6NSJ5 Hs.501511 FLJ23420 leucine-rich repeat-containing protein 8E APPROVED protein-coding ENSG00000171017 26272 08670 612891 REVIEWED 2293898 LRRIQ4 leucine-rich repeats and IQ motif containing 4 3 3 3 q26.2 167938185 167954845 + 171022404 171038255 + 169539710 169555561 + 6480464 344657 A6NIV6 ABBA01058703;ABBA01058704;AC078795;AMYH01013642;NM_001080460 A6NIV6;NP_001073929 Hs.319484 1334657 D3S3523 LRRC64 OTTHUMP00000226662;leucine rich repeat containing 64;leucine-rich repeat and IQ domain-containing protein 4;leucine-rich repeat-containing protein 64 protein-coding ENSG00000188306 34298 PROVISIONAL 1343054 LRRIQ1 leucine-rich repeats and IQ motif containing 1 12 12 12 q21.31 85093691 85302430 + 83954230 84163014 + 85430099 85638883 + 737633;6480464 12477932 16344560;14702039;11347906;8889548;20379614 84125 A8MY60;H0YCJ9;H0YEI9;H0YEZ5;Q96JM4 AB058704;ABBA01053445;AC025418;AC079631;AC133794;AK022365;AK307799;AMYH01004635;AMYH01004636;AU122206;BC005399;BC093088;BU608190;BU677204;CA502842;CH471054;DB447399;DN831755;NM_001079910 AAH93088;BAB14022;BAB47430;EAW97393;EAW97394;EAW97395;EAW97396;NP_001073379;Q96JM4 Hs.402200 1340244;1713669;1746253;1746255;1746843;2165510;5014051;5022200;7186182 D12S81;D8S2278;G64415;G64511;G64788;L18426;RH120717;STS-N40969 FLJ12303 OTTHUMP00000232102;leucine-rich repeat and IQ domain-containing protein 1 protein-coding ENSG00000133640 25708 09952 VALIDATED 1603911 LRRIQ3 leucine-rich repeats and IQ motif containing 3 1 1 1 p31.1 72737273 72909434 - 74264287 74436459 - 74491699 74663871 - 6480464 12477932;21057379;23247143 127255 A6PVS8;A6PVT2;A8MSG4;H0Y5F9 ABBA01074429;AC098692;AK131476;AL359205;AMYH01000711;BC020778;BC062795;BX647210;CH471059;NM_001105659 A6PVS8;AAH20778;AAH62795;BAD18621;EAX06418;EAX06419;EAX06420;EAX06421;EAX06422;EAX06423;NP_001099129 Hs.644625 1711004;1716857;1724939;1749803;1773898;2153913;5093916 A009Y47;G32999;RH119236;RH121722;SHGC-111542;SHGC-75034;SHGC-84880 LRRC44;MGC22773 OTTHUMP00000196434;leucine rich repeat containing 44;leucine-rich repeat and IQ domain-containing protein 3;leucine-rich repeat-containing protein 44 protein-coding ENSG00000162620 28318 14485 PROVISIONAL 1353141 LRRK2 leucine-rich repeat kinase 2 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008] 12 12 q12 38905081 39049354 + 40618813 40763087 + 5508408;5508405;5508406;5508410;5508417;5508418;5508419;5508399;5508401;5508404;5508407;5508409;5508414;5508416;5508420;5508415;6480464;6907045;7240710 21167764;21796139;21483109;20818610;21375368;17639429;17082220;21989859;21983832;21954089;21280089;21159540;20729864;20669305;20720502;20721916 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25654;REN25655;REN25656;REN25657;REN25658;REN25659;REN25660;REN25661;REN25662;REN25663;REN25664;REN25665;REN25666;REN25667;REN25668;REN25669;REN25670;REN25671;REN25672;REN25673;REN25674;REN25675;REN25676;REN25677;REN25678;REN25679;REN25680;REN25681;REN25682;REN25683;REN25684;REN25685;REN25686;REN25687;REN25688;REN25689;REN25690;REN25691;REN25692;REN25693;REN25694;REN25695;REN25696;REN25697;REN25698;REN25699;REN25700;REN25701;REN25702;REN25703;REN25704;REN25705;REN25706;REN25707;REN25708;REN25709;REN25710;REN25711;REN25712;REN25713;REN25714;REN25715;REN25716;REN25717;REN25718;REN25719;REN25720;REN25721;REN25722;REN25723;REN25724;REN25725;REN25726;REN25727;REN25728;REN25729;REN25730;REN25731;REN25732;REN25733;REN25734;REN25735;REN25736;REN25737;REN25738;REN25739;REN25740;REN25741;REN25742;REN25743;REN25744;REN25745;REN25746;REN25747;REN25748;REN25749;REN25750;REN25751;REN25752;REN25753;REN25754;REN25755;REN25756;REN25757;REN25758;REN25759;REN25760;REN25761;REN25762;REN25763;REN25764;REN25765;REN25766;REN25767;REN25768;REN25769;REN25770;REN25771;REN25772;REN25773;REN25774;REN25775;REN25776;REN25777;REN25778;REN25779;REN25780;REN25781;REN25782;REN25783;REN25784;REN25785;REN25786;REN25787;REN25788;REN25789;REN25790;REN25791;REN25792;REN25793;REN25794;REN25795;REN25796;REN25797;REN25798;REN25799;REN25800;REN25801;REN25802;REN25803;REN25804;RH122182;RH68116;RH93615;SHGC-145335;SHGC-146660;SHGC-60144;stSG619864;stSG619866;stSG619867;stSG619868;stSG619869;stSG619870;stSG619871;stSG619872;stSG619873;stSG619874;stSG619875;stSG619876;stSG619877;stSG619878;stSG619879;stSG619880;stSG619881;stSG619882;stSG619883;stSG619885;stSG619888;stSG619889;stSG619890;stSG619891;stSG619892;stSG619893;stSG619894;stSG619895;stSG619896;stSG619897;stSG619898;stSG619899;stSG619900;stSG619901;stSG619902;stSG619903;stSG619904;stSG619905;stSG619906;stSG619907;stSG619908;stSG619909;stSG619910;stSG619912;stSG619913;stSG619914;stSG619915;stSG619916;stSG619917;stSG619918;stSG619919;stSG619920;stSG619921;stSG619922;stSG619923;stSG619925;stSG619926;stSG619927;stSG619928;stSG619929;stSG619930;stSG619931;stSG619932;stSG619933;stSG619934;stSG619935;stSG619936;stSG619937;stSG619938;stSG619939;stSG619940;stSG619941;stSG619942;stSG619943;stSG619944;stSG619946;stSG619947;stSG619948;stSG619949;stSG619950;stSG619951;stSG619952;stSG619953;stSG619954;stSG619955;stSG619956;stSG619957;stSG619958;stSG619959;stSG619960;stSG619961;stSG619962;stSG619963;stSG619964;stSG619965;stSG619966;stSG619967;stSG619968;stSG619969;stSG619970;stSG619971;stSG619972;stSG619973;stSG619974;stSG619975;stSG619976;stSG619977;stSG619978 AURA17;DARDARIN;PARK8;RIPK7;ROCO2 OTTHUMP00000179167;augmented in rheumatoid arthritis 17;leucine-rich repeat serine/threonine-protein kinase 2 APPROVED protein-coding ENSG00000188906 18618 607060;609007 REVIEWED 1348771 LRRFIP1 leucine rich repeat (in FLII) interacting protein 1 2 2 q37.3 238265668 238338645 + 238536224 238690290 + 1580863;6480464 17081983;15815621;9671805;9705290;19265123;16964243;16199883;15489334;15302935;14702039;14522076;12477932;10366446;10364563;9525888;8889548;22739583;20833976;20379614;21102652;22750095;22939629;23099021;16990252;22863883 9208 B4DPC0;C9JTC6;Q32MZ4 AA975133;ABBA01042594;ABBA01042595;AC012076;AC096574;AF115510;AJ223075;AK000884;AK298270;AK307485;AMYH01011598;AMYH01011599;BC001385;BC004958;BC010662;BC018883;BC019335;BC071618;BC083492;BC108913;BC108914;BE390005;BG699031;BU685896;CH471063;NM_001137550;NM_001137551;NM_001137552;NM_001137553;NM_004735;U69609 AAC32037;AAD41258;AAH01385;AAH10662;AAH19335;AAI08914;AAI08915;AAY14672;AAY14673;ACE86442;ACE87118;ACE87782;ACE87783;ACT64449;ACT64450;BAG60532;CAA11076;EAW71122;EAW71123;EAW71124;EAW71125;NP_001131022;NP_001131023;NP_001131024;NP_001131025;NP_004726;Q32MZ4 Hs.471779 1658194;1714489;1725431;1754551;1775799;1851173;1852535;2109487;2126550;2139946;2152721;2174537;5037552 D8S2279;LRRFIP1__6241;RH119111;RH119756;RH36116;RH36320;RH45754;RH68594;RH70121;SHGC-132833;SHGC-53062;SHGC-57018;WI-16831 FLAP-1;FLAP1;FLIIAP1;GCF-2;GCF2;HUFI-1;MGC10947;MGC119738;MGC119739;TRIP GC-binding factor 2;LRR FLII-interacting protein 1;NEDD8-conjugating enzyme;OTTHUMP00000164477;OTTHUMP00000164478;OTTHUMP00000196808;OTTHUMP00000196809;TAR RNA-interacting protein;leucine-rich repeat flightless-interacting protein 1;transcription factor 9-like protein-coding ENSG00000124831 6702 04460 603256 VALIDATED 1345511 LRRN1 leucine rich repeat neuronal 1 3 3 3 p26.2 3781602 3829467 + 3816121 3864387 + 3841121 3889387 + 6480464 18591937;16381901;15489336;15489334;15340161;14702039;12975309;12880961;12477932;11076863;10819331;20678249;21139048 57633 Q6UXK5 AB040930;AB074161;ABBA01020479;AC023484;AK023273;AK291717;AMYH01012947;AY358312;BC034947;CH471055;NM_020873 AAH34947;AAQ88679;BAA96021;BAB14500;BAE45733;BAF84406;CAL37408;CAL38112;CAL38432;CAL38647;EAW63900;EAW63901;NP_065924;Q6UXK5 Hs.163244 1669714;1696400;1696928;1723395;1724895 RH101933;RH118509;RH119212;RH48342;SHGC-77858 FIGLER3;KIAA1497;NLRR-1 OTTHUMP00000206968;fibronectin type III, immunoglobulin and leucine rich repeat domains 3;leucine-rich repeat neuronal protein 1;neuronal leucine-rich repeat protein 1 protein-coding ENSG00000175928 20980 14320 VALIDATED 1314733 LRRFIP2 leucine rich repeat (in FLII) interacting protein 2 3 3 3 p22.2 37036882 37151380 - 37069502 37191086 - 37094117 37217851 - 1580863;6480464 10366446;15677333;19265123;17081983;15489334;14702039;12477932;20379614;21220426;20360068;21785361;19322201;23036196 9209 A8MXR0;C9J0U5;C9J321;C9JC17;C9JJC9;C9JSU1;H7C3N9;Q9Y608 ABBA01024854;ABBA01024855;ABBA01024856;ABBA01024857;ABBA01024858;AC006583;AC126118;AF115509;AK000255;AK024692;AK026336;AK124432;AK291514;AK302282;AMYH01013086;BC053668;BX648794;CH471055;CR749705;DC336346;NM_001134369;NM_006309;NM_017724;R27776 AAD41257;AAH53668;BAA91035;BAF84203;BAG63625;CAH18481;EAW64486;EAW64487;EAW64488;EAW64489;EAW64490;EAW64491;NP_001127841;NP_006300;NP_060194;Q9Y608 Hs.740522 1660820;1712190;1745989;1772706;2108219;2138908;2141749;2160965;2163620;2179360 D3S4239;G54146;LRRFIP2_8913;RH125441;RH16680;RH66477;RH66486;STS-N68834;STS-W88502;WI-19620 DKFZp434H2035;FLJ20248;FLJ22683;FLJ58304;HUFI-2 LRR FLII-interacting protein 2;OTTHUMP00000161359;OTTHUMP00000161360;OTTHUMP00000208871;OTTHUMP00000208872;OTTHUMP00000208873;leucine-rich repeat flightless-interacting protein 2 protein-coding ENSG00000093167 6703 10061 614043 VALIDATED 1354064 LRRN6B leucine rich repeat neuronal 6B 14686891 353297 K7EQB4;P0C6S8 AK091795 21206 1317516 LRRK1 leucine-rich repeat kinase 1 15 15 15 q26.3 77872799 78023725 + 99276983 99427840 + 101459460 101610317 + 6480464 17353931;18272292;18045479;17394548;17324517;17225181;16572171;16243488;15489334;14702039;14654223;12477932;11347906;8889548;8125298;18029348;22988872;22337768;21963094;23291589;19380743;19712061;20697350;22952686 79705 E9PK39;E9PLF8;E9PMK9;H0YEW1;J3KN98;Q38SD2 AB058693;ABBA01020529;ABBA01020530;ABBA01020531;AC015712;AC090907;AK026772;AK054662;AK058028;AK094556;AK130975;AK131075;AK225575;AMYH01006973;AMYH01006974;AMYH01006975;AW592808;BC005408;BC018934;BC020379;BC066655;BC068080;BC110293;BC144705;BC146769;BC171802;BQ187037;CH471101;DQ013130;NM_024652 AAH05408;AAH66655;AAH68080;AAI46770;AAI72446;AAY67799;BAB15547;BAB47419;BAC85125;BAC85472;BAG51407;BAG52887;EAX02287;EAX02288;EAX02289;NP_078928;Q38SD2 Hs.407918 1644631;1675445;1740573;1775732;2107287;2116027;2159194;2180527 D10S1702;D15S1136;LRRK1__7334;RH44810;RH93536;SHGC-64945;STS-N32240;STS-Z40893 FLJ23119;FLJ27465;KIAA1790;RIPK6;Roco1 OTTHUMP00000230021;leucine-rich repeat serine/threonine-protein kinase 1 protein-coding ENSG00000154237 18608 14319 610986 VALIDATED 1313534 LRRN2 leucine rich repeat neuronal 2 The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q32.1 177721461 177789729 - 202852924 202921220 - 204586301 204654597 - 6480464 9662332;16710414;15489334;14702039;12975309;12477932;8401585;20379614;21988832 10446 O75325 ABBA01027438;ABBA01027439;AF030435;AK001246;AK024867;AK226055;AK312408;AL161793;AL512306;AL833565;AMYH01001663;AMYH01001664;AMYH01001665;AY358290;BC034047;BC068541;CH471067;NM_006338;NM_201630;T08293 AAC39792;AAH34047;AAH68541;AAQ88657;ABM83316;ABM86531;BAG35321;BAG50878;EAW91520;EAW91521;EAW91522;NP_006329;NP_963924;O75325 Hs.26312 FIGLER7;GAC1;LRANK1;LRRN5 OTTHUMP00000034222;OTTHUMP00000035083;OTTHUMP00000035084;fibronectin type III, immunoglobulin and leucine rich repeat domain 7;glioma amplified on chromosome 1 protein;leucine rich and ankyrin repeats 1;leucine rich repeat neuronal 5;leucine-rich repeat neuronal protein 2;leucine-rich repeat neuronal protein 5 APPROVED protein-coding ENSG00000170382 16914 16109 605492 REVIEWED 1603349 LRRN4CL LRRN4 C-terminal like 11 11 q12.3 62210450 62213776 - 62453874 62457371 - 6480464 12975309;12477932 221091 Q8ND94 ABBA01003237;ABBA01003238;AK291334;AL834319;AMYH01003690;AP001458;AY358354;BC053902;BQ678065;NG_033077;NM_203422 AAH53902;AAQ88720;BAF84023;CAD38988;NP_981967;Q8ND94 Hs.427449 1739963;1745985;2127309;2167540;5014051;5015619;5015961;5016700;5021872;5022322;5022651;5037552 D11S2560;D11S2921;D11S3114;D11S4063;D11S4928;D15S1477;D8S2278;D8S2279;RH125269;RH12527;RH79802;sY3084 MGC61707 LRRN4 C-terminal-like protein;OTTHUMP00000236221 protein-coding ENSG00000177363 33724 17322 VALIDATED 1342647 LRS1 Larsen syndrome 1 (autosomal dominant) 7240710 7485161 4044 6704 108720;108721;112310;150250;272460 734364 LRRN3 leucine rich repeat neuronal 3 7 7 7 q31.1 105543350 105577801 + 110518298 110552746 + 110731062 110765510 + 1580863;6480464 16344560;15489334;14702039;12975309;12477932;11549284;20379614;20678249;21908575 54674 A4D0T1;E7EW58;Q9H3W5;Q9NUU4 AACC02000004;AB060967;ABBA01057864;AC004142;AF134481;AK001991;AK292556;AL442092;AMYH01017852;AY358280;BC035133;CH236947;CH471070;CR457397;CS265753;DA494543;DB095402;JA738665;JA738667;JA738669;NG_030016;NM_001099658;NM_001099660;NM_018334 AAH35133;AAP97258;AAQ88647;ADZ15603;BAA92025;BAB47184;BAF85245;CAC09450;CAG33678;CAJ78398;CCF76985;CCF76986;CCF76987;EAL24380;EAW83449;EAW83450;NP_001093128;NP_001093130;NP_060804;Q9H3W5 Hs.3781 1670003;1675114;1700912;1850362;2173136;2173138;2178479 A001X05;AFM191yc5;D7S2117E;G19737;RH104083;RH47469;STS-AA025228 FIGLER5;FLJ11129;NLRR-3;NLRR3 OTTHUMP00000207165;OTTHUMP00000207166;OTTHUMP00000207167;fibronectin type III, immunoglobulin and leucine rich repeat domains 5;leucine-rich repeat neuronal protein 3;leucine-rich repeat protein, neuronal 3;neuronal leucine-rich repeat protein 3 protein-coding ENSG00000173114 17200 14321 VALIDATED 1313178 LRRN4 leucine rich repeat neuronal 4 20 20 20 p12.3 6092695 6105965 - 5969426 5982676 - 6021192 6034726 - 6480464 16344560;16189514;15870286;15489334;12477932;11780052;19448619;21984916;15342556 164312 Q6ZMD1;Q8WUT4 AA464555;ABBA01053897;AK172833;AK290123;AL035461;AL118505;AMYH01011696;BC019612;BC027720;BP252017;CH471133;DA737583;NM_152611 AAH27720;BAD18798;BAF82812;EAX10397;NP_689824;Q8WUT4 Hs.149133;Hs.741648;Hs.741928 C20orf75;FLJ23994;MGC25027;NLRR-4;NLRR4;dJ1056H1.1 NLRR-4;OTTHUMP00000030221;leucine-rich repeat neuronal protein 4;neuronal leucine-rich repeat protein 4 protein-coding ENSG00000125872 16208 12784 VALIDATED 1345909 LRRTM2 leucine rich repeat transmembrane neuronal 2 5 5 5 q31.2 134326860 134332826 - 138232978 138238908 - 138205079 138211057 - 1580863;6480464 19240791;16344560;15489334;12676565;12477932;9455477;21708131 26045 E5RHE5;E5RIQ2;O43300 AB007876;ABBA01068653;AC011405;AK291064;AK309790;AMYH01015646;AY182026;BC028172;BC126408;BC126410;BC143926;CH471062;DA400927;NM_015564 AAI26409;AAI26411;AAI43927;AAO67547;ADR83048;BAA24846;BAF83753;EAW62125;NP_056379;O43300 Hs.656653 1654738;1688221;2147993;2159620;2174861;2191049;5493881 A002T30;D5S1856;Lrrtm2;MARC_13807-13808:1006870442:1;RH91185;SHGC-2340;WI-17966 FLJ76283;FLJ99831 OTTHUMP00000224214;OTTHUMP00000224215;OTTHUMP00000224216;leucine-rich repeat neuronal 2 protein;leucine-rich repeat transmembrane neuronal 2 protein;leucine-rich repeat transmembrane neuronal protein 2 protein-coding ENSG00000146006 19409 17454 610868 VALIDATED 1351021 LRRTM1 leucine rich repeat transmembrane neuronal 1 2 2 2 p12 80357641 80360125 - 80382514 80384998 - 80529003 80531487 - 1580863;6480464 17667961;19125367;19125366;19125365;15489334;14702039;12975309;12676565;12477932;8125298;19626025;21041608;20678249;21708131 347730 C9JEE2;C9JF97;C9JPM9;Q86UE6 AA977181;ABBA01075679;AC016670;AK056644;AK225779;AK290512;AMYH01010477;AY182024;AY358310;BC045113;BI756350;CH471053;NM_178839 AAH45113;AAO67545;AAQ88677;ADR82640;BAB71240;BAF83201;EAW99566;EAW99567;NP_849161;Q86UE6 Hs.591580 1696082;1739287;2107289 D2S1942E;LRRTM1__7335;SHGC-79114 FLJ32082 OTTHUMP00000194829;OTTHUMP00000202791;OTTHUMP00000202801;OTTHUMP00000202802;OTTHUMP00000203402;OTTHUMP00000203403;OTTHUMP00000203404;leucine-rich repeat transmembrane neuronal 1 protein;leucine-rich repeat transmembrane neuronal protein 1 protein-coding ENSG00000162951 19408 14323 610867 VALIDATED 1312552 LRRTM3 leucine rich repeat transmembrane neuronal 3 10 10 10 q21.3 61961031 62136119 + 68355798 68530873 + 68685792 68860867 + 1580863;6480464 19105203;17098871;15489334;12975309;12676565;12477932;20678249;21598020;22393166;22710909 347731 Q86VH5 ABBA01019540;ABBA01019541;AC022401;AC069536;AK290168;AK294029;AL139240;AMYH01002790;AY182028;AY358315;BC111492;BC113715;BC113717;BX640611;CH471083;NM_178011 AAI11493;AAI13716;AAI13718;AAO67549;AAQ88681;ADR83071;BAF82857;BAG57384;CAE45717;EAW54253;NP_821079;Q86VH5 Hs.652155 1667189;1706740;1707460;1713667;1764027;1775958;2106807;2150040;2186125 CGR167;HSC1UA032;RH120716;SHGC-147682;SHGC-80827;SHGC-84525;STS-AA009437;STS-Z39591;WI-22233 MGC131810 OTTHUMP00000019682;OTTHUMP00000019683;leucine-rich repeat transmembrane neuronal protein 3 protein-coding 19410 14324 610869 VALIDATED 1343012 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012] 9 9 9 q33.3 100864640 100916667 + 129253613 129305599 + 130213765 130265780 + 737633;6480464 12477932 18077552;16713569;15489334;15256501;15164053;14702039;14635195;12975309;7757816;16808324;16169070;16189514;16344560;19690564;18029348;20865121;19549727;20616063;23105109;22781092;22863883;22012984;21078624;22939624;23245322;21987572;21139048;21890473;21906983;21044950;20301462;19542561;22939629;22493164 90678 Q6UWE0 ABBA01043833;AF086398;AI364608;AK056203;AK056305;AK091589;AK097094;AK226106;AL445222;AMYH01021726;AMYH01021727;AMYH01021728;AY358830;BC009239;CH471090;DA165729;DA393757;DA726792;DB165274;DB309230;NG_032008;NM_001005373;NM_001005374;NM_001190723;NM_138361;Z44095 AAH09239;AAQ89189;BAB71119;BAB71144;BAC03703;EAW87671;EAW87672;EAW87673;EAW87674;NP_001005373;NP_001005374;NP_001177652;NP_612370;Q6UWE0 Hs.495188 1339158;1665273 A008L27;D9S904 CMT2P;FLJ31641;RIFLE;TAL E3 ubiquitin-protein ligase LRSAM1;OTTHUMP00000022173;OTTHUMP00000022174;OTTHUMP00000022175;Tsg101-associated ligase;leucine-rich repeat and sterile alpha motif-containing protein 1 APPROVED protein-coding ENSG00000148356 25135 14325 610933;614436 REVIEWED 5144647 LSAMP-AS1 LSAMP antisense RNA 1 3 116078871 116088932 + 100506708 XR_108470;XR_133350 APPROVED miscrna 40350 1352645 LRRTM4 leucine rich repeat transmembrane neuronal 4 2 2 2 p12 76805254 77579821 - 77597295 77603010 - 76974849 77749502 - 1580863;6480464 16344560;15489334;14702039;12975309;12676565;12477932;20379614;20467438;23382691 80059 B3KV11;B8ZZ84;C9JM64;Q4KMX1;Q6ZT31;Q86VH4;Q9H9T0 ABBA01075631;ABBA01075632;ABBA01075633;ABBA01075634;ABBA01075635;ABBA01075636;ABBA01075637;ABBA01075638;ABBA01075639;ABBA01075640;ABBA01075641;ABBA01075642;ABBA01075643;ABBA01075644;AC013408;AC013716;AC016758;AC068048;AC068616;AC079117;AC079146;AC079614;AI079273;AK022630;AK122612;AK126961;AL353610;AMYH01010462;AMYH01010463;AMYH01010464;AMYH01010465;AY182030;AY358324;BC017769;BC098267;BC098301;BC099738;BC110058;CH471053;DB305042;DB366645;NM_001134745;NM_024993 AAH17769;AAH98267;AAH98301;AAH99738;AAI10059;AAO67551;AAQ88690;BAB14141;BAC86764;BAG53623;EAW99585;NP_001128217;NP_079269;Q86VH4 Hs.285782 1655205;1666806;1696034;1696036;1705436;1711038;1716047;1718175;1721881;1734878;1747645;1761385;1765317;1776167;1778985;1784314;2107291;2114750;2121402;2133147;2190933 1460;D2S1637E;D2S1774;D2S2714;G59971;G65482;LRRTM4__7336;MARC_11727-11728:1029181145:1;RH120962;RH122856;RH45848;RH66713;RH67975;SHGC-145401;SHGC-148810;SHGC-81647;SHGC-83183;SHGC-83192;SHGC-83799;SHGC-86146;STS-F04951 FLJ12568;MGC120633;MGC120636 OTTHUMP00000202553;OTTHUMP00000202554;OTTHUMP00000202556;leucine-rich repeat transmembrane neuronal 4 protein;leucine-rich repeat transmembrane neuronal protein 4 protein-coding ENSG00000176204 19411 11288 610870 VALIDATED 7207650 LSINCT5 long stress-induced non-coding transcript 5 p15.33 20214974;21532345;23359273 101234261 GU228577 long stress-induced non-coding transcript 5 protein-coding 37824 1606530 LRTM1 leucine-rich repeats and transmembrane domains 1 3 3 3 p14.3 54918491 54928203 - 54927400 54937112 - 54952360 54962072 - 6480464 17081983;15489334;12477932;10931946 57408 Q9HBL6 ABBA01024460;AC092797;AC109584;AF225421;AMYH01013199;BC040732;BC074741;CH471055;NM_020678 AAG09723;AAH40732;AAH74741;EAW65305;EAW65306;NP_065729;Q9HBL6 Hs.591668 1337433;2110465;2159403 D3S1613;HT017__7511;RH78885 HT017 OTTHUMP00000213116;leucine-rich repeat and transmembrane domain-containing protein 1 protein-coding ENSG00000144771 25023 13718 PROVISIONAL 1605448 LRTM2 leucine-rich repeats and transmembrane domains 2 12 12 12 p13.33 3537149 3553636 + 1799956 1816179 + 1929433 1945918 + 6480464 16344560;14702039;12477932 654429 F5GZY9;F5H2B4;Q8N967 ABBA01048815;ABBA01048816;AC005343;AK095610;AK124687;AK125402;AK126866;AMYH01004176;BC036868;BC129997;BC146894;BC146910;BC150567;BC150568;BX115405;CH471116;DA336140;DA418133;NG_012663;NM_001039029;NM_001163925;NM_001163926 AAI46895;AAI46911;AAI50569;BAC04589;BAC86158;BAG54068;EAW88921;EAW88922;NP_001034118;NP_001157397;NP_001157398;Q8N967 Hs.585579 FLJ42697 OTTHUMP00000237869;OTTHUMP00000237870;leucine-rich repeat and transmembrane domain-containing protein 2 protein-coding ENSG00000166159 32443 VALIDATED 1603534 LRWD1 leucine-rich repeats and WD repeat domain containing 1 7 7 7 q22.1 97117725 97125881 + 101892395 101900617 + 102105390 102113612 + 6480464 22427655;15302935;12477932;20180869;20850016;20932478;16751776;22939629;21139048;20360068;22645314;22935713 222229 F8WBP5;F8WDB4;H7C4Q9;H7C5N7;H7C5S6;Q9UFC0 AB209379;ABBA01011281;AC093668;AK290967;AK313771;AL133057;AMYH01017770;BC009436;BC018769;BC030547;CH471197;NM_152892 AAH09436;AAH18769;AAH30547;BAD92616;BAF83656;BAG36509;CAB61382;EAW50250;NP_690852;Q9UFC0 Hs.274135 1651984;1654313;5022578;5109281 D1S1423;D1S1425;STS-H73947;STS-L37127 CENP-33;DKFZp434K1815;ORCA ORC-associated;ORC-associated protein;OTTHUMP00000212406;centromere protein 33;leucine-rich repeat and WD repeat-containing protein 1;origin recognition complex associated;origin recognition complex-associated protein protein-coding ENSG00000161036 21769 10904 615167 PROVISIONAL 1602965 LRTOMT leucine rich transmembrane and 0-methyltransferase domain containing This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012] 11 11 11 q13.4 69093343 69123775 + 71469553 71485589 + 71791377 71821828 + 6480464;7240710 18794526;18953341;17211611;17166180;17066295;16344560;15489334;12477932;21739586;23053991;19322201;20301607 220074 C9JDG7;F5GYI0;F5H0M6;F5H614;F5H6F7;F5H6K5;F8WBA5;Q8WZ04;Q96E66 ABBA01017542;AF289588;AK298997;AK302772;AK311690;AK313150;AK315892;AMYH01003791;AP000812;AP002490;BC012855;BC035223;BX115135;CH471076;DA151871;DA637921;DA664751;EU627066;EU627067;EU627068;EU627069;EU627070;NG_021423;NM_001145307;NM_001145308;NM_001145309;NM_001145310;NM_001205138;NM_001271471;NM_145309;NR_026886 AAH12855;AAL55772;ACF40876;ACF40877;ACF40878;ACF40879;ACF40880;BAF98783;BAG35968;BAH12920;BAH13802;EAW74832;EAW74833;EAW74834;EAW74835;NP_001138779;NP_001138780;NP_001138781;NP_001138782;NP_001192067;NP_001258400;NP_660352;Q8WZ04;Q96E66 Hs.317243;Hs.667985 1667195;1683379;1737631;1774463;1847699;1851895;1857281;2146328;2148684;2148686;2155819;2191507;5014051;5015861;5020948;5022200;5022578;5022651;5024039;5037552;5109281;7185938 A002T20;A005V05;D10S16;D11S2238E;D11S2921;D11S3230;D11S4065;D11S4284;D16S325;D1S1423;D1S1425;D8S2278;D8S2279;G20526;G35510;L18426;MARC_24275-24276:1044473527:2;RH44914;RH92229;WI-13701;WI-14272 COMT2;DFNB63;FLJ52451;LRRC51;LRTOMT1;LRTOMT2 OTTHUMP00000206871;OTTHUMP00000206872;OTTHUMP00000206873;OTTHUMP00000206874;OTTHUMP00000236840;OTTHUMP00000236841;OTTHUMP00000236843;OTTHUMP00000237056;catechol O-methyltransferase 2;leucine rich repeat containing 51;leucine-rich repeat-containing protein 51;leucine-rich repeat-containing protein 51; transmembrane O-methyltransferase;transmembrane O-methyltransferase APPROVED protein-coding ENSG00000184154 25033 11839 611451;612414 REVIEWED 1642112 LSM12P1 LSM12 homolog (S. cerevisiae) pseudogene 1 8 8 8 p12 34331214 34333388 - 35500659 35502834 - 35381097 35383292 - 11181995 653122 ABBA01023585;AC013302;AMYH01018641;CH471080;NG_005566 EAW63386 1728975;1745983 D5Bwg0676e;RH125247 LSM12P APPROVED pseudo 32453 INFERRED 1347242 LSAMP limbic system-associated membrane protein The protein encoded by this gene is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system. During development of the limbic system, this encoded protein is found on the surface of axonal membranes and growth cones, where it acts as a selective homophilic adhesion molecule, and guides the development of specific patterns of neuronal connections. [provided by RefSeq, Jul 2008] 3 3 q13.2-q21 117011832 117647068 - 115521210 116164385 - 1580863;6480464 8666243;18433483;18318786;18268500;15489334;15146195;14667507;12477932;9615236;14702039;19441093;19724913;20379614;17500595;22892717 4045 C9J5G3;F5H5G1;H3BLU2;Q13449 ABBA01061613;ABBA01061614;ABBA01061615;ABBA01061616;ABBA01061617;ABBA01061618;ABBA01061619;ABBA01061620;ABBA01061621;ABBA01061622;AC012598;AC021657;AC067725;AC078784;AC078805;AC078813;AC084408;AK091573;AK092715;AK094535;AK299851;AK315286;AMYH01013404;AMYH01013405;AMYH01013406;AMYH01013407;AMYH01013408;BC033803;BC041405;BC045591;BM041903;CH471052;NM_002338;U41901 AAC50569;AAH33803;ABM83025;ABM86218;BAG37695;BAH13147;EAW79588;EAW79589;EAW79590;EAW79591;NP_002329;Q13449 Hs.26409;Hs.723683 1336068;1338665;1646791;1654784;1655755;1655757;1657864;1660485;1664932;1695224;1695520;1705648;1706750;1709474;1722577;1724293;1726479;1735238;1735332;1753943;1758857;1773581;2111089;2116536;2118809;2120223;2121597;2127220;2142308;2147220;2153162;2156610;2163604;2165594;2169299;2171750;2174582;2174584;2191205;5094434;7187083 2118;A005K02;A006D03;AF020123;D3S1502E;D3S1579;D3S2904E;D3S2958E;D3S3420;D3S3529;D3S3535;G09430;G16561;G16587;G20276;G20714;G54795;G60220;G62619;HSCZWD042;MARC_16134-16135:1018552266:3;RH119071;RH68489;SGC34765;SHGC-13245;SHGC-151002;SHGC-62929;SHGC-68406;SHGC-77221;SHGC-77226;SHGC-77227;SHGC-80838;SHGC-81789;SHGC-83397;SHGC-89376;STS-H47384;STS-N30425;STS-Z40445;WI-12484;WI-22395 FLJ34254;FLJ35396;FLJ37216;FLJ54658;IGLON3;LAMP IgLON family member 3;OTTHUMP00000214774;OTTHUMP00000214775;limbic system-associated membrane protein APPROVED protein-coding 6705 09128 603241 REVIEWED 1354131 LSM11 LSM11, U7 small nuclear RNA associated 5 5 5 q33.3 153197357 153210338 + 157103333 157116324 + 157170755 157183746 + 737633;6480464 12477932 16914750;16087681;15489334;14702039;12975319;11574479;16714279;22939629;18029348;19928837;19322201;23071092 134353 P83369 ABBA01044264;AC026407;AK095592;AMYH01015748;BC051353;BC126449;CH471062;NM_173491 AAH51353;AAI26450;BAC04581;EAW61589;NP_775762;P83369 Hs.631954 2107293;2149814;5022200;5037552 AFMa205yh9;D8S2279;L18426;LSM11__7339 FLJ38273 2210404M20Rik;LSM11 homolog, U7 small nuclear RNA associated;OTTHUMP00000160748;U7 snRNA-associated Sm-like protein LSm11 protein-coding 30860 11289 PROVISIONAL 1350873 LSM10 LSM10, U7 small nuclear RNA associated 1 1 1 p34.3 35134165 35138630 - 36631618 36636080 - 36859031 36863493 - 1580863;6480464 15231747;19277982;16914750;16087681;15489334;15188402;12975319;12477932;11574479;10207079;11782445;16189514;19060904;19928837 84967 Q7Z2T2;Q969L4 ABBA01023298;AC119675;AF166092;AF394685;AMYH01000496;BC007623;CH471059;NM_032881 AAH07623;AAL07689;AAQ13594;EAX07367;NP_116270;Q969L4 Hs.603131 1647672;1766349;2185594 AL010116;SHGC-149690;SHGC-74607 MGC15749;MST074;MSTP074 OTTHUMP00000009845;U7 snRNA-associated Sm-like protein LSm10;U7 snRNP-specific Sm-like protein LSM10 protein-coding ENSG00000181817 17562 14326 PROVISIONAL 1605064 LSG1 large subunit GTPase 1 homolog (S. cerevisiae) This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009] 3 3 3 q29 192777382 192808648 - 195842812 195874200 - 194361517 194393206 - 6480464;6907045 16209721;16381901;16344560;15489336;14702039;12477932;11256614;11230166;11076863;10737800;8125298;18029348;21139048;21906983;23000965 55341 F8WFC6;H7C2X7;Q9H089 ABBA01001621;ABBA01001622;ABBA01001623;AC046143;AK002163;AK130804;AK225094;AL136897;AMYH01013782;AW748476;BC015042;BC040119;BC058891;BC068500;BQ009975;CH471052;DA101432;DA414880;NM_018385 AAH15042;AAH40119;AAH68500;BAA92116;CAB66831;CAL37455;EAW78035;EAW78036;EAW78037;EAW78038;EAW78039;NP_060855;Q9H089 Hs.744061 1655503;1655505;1683257;2141742;5022578;5037552 D1S1423;D8S2279;RH16567;SHGC-33507;SHGC-67649;STS-AA010049 FLJ11301;FLJ27294 OTTHUMP00000209073;hLsg1;large subunit GTPase 1 homolog APPROVED protein-coding ENSG00000041802 25652 07748 610780 REVIEWED 6893098 LSM3P1 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 1 17 q 46288425 46289148 - 100303748 ABBA01041162;AC027152;AMYH01008452;NG_012904 pseudo 44346 INFERRED 6893099 LSM3P2 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 2 12 q 94984514 94985154 + 100303745 ABBA01053361;AC026672;AMYH01004663;NG_012901 pseudo 44347 INFERRED 6893069 LSM3P3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 3 2 p11.2 85328963 85329822 - 647302 ABBA01075736;AC011236;AMYH01010494;NG_012903 pseudo 44348 INFERRED 6892981 LSM3P4 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 4 4 q31.21 143238367 143238927 + 9847074 100130178 ABBA01069992;AC093860;AMYH01014577;NG_012902 pseudo 44349 INFERRED 6893100 LSM3P5 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 5 16 q 78389391 78389957 + 100303743 ABBA01017020;AC109134;AMYH01007827;NG_012900 pseudo 44350 INFERRED 1312715 LSM1 LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011] 8 8 p11.2 38140014 38153183 - 38020839 38034248 - 1580863;6480464 10369684;14667819;15231747;18218995;17001308;16756390;16699599;15489334;12515382;12477932;11953827;11920408;10851237;10523320;9230209;8980254;18172165;18559850;20379614;22863883;16147992;17178857;21788678;22939629;15342556;21139048;22037555 27257 E5RH18;E5RJ47;O15116 ABBA01023548;ABBA01023549;ABBA01023550;AC084024;AF000177;AF147348;AJ238094;AK312159;AMYH01018653;BC001767;BE670269;BP376421;BU521199;BU941962;CH471080;HC879396;HD033105;NM_014462;NR_045492;NR_045493 AAB62189;AAH01767;BAG35093;CAB45865;CBM42914;CBV35647;EAW63332;EAW63333;NP_055277;O15116 Hs.425311 2124735;2152372;2165596 D8S2102;RH46977;STS-T10665 CASM;YJL124C OTTHUMP00000225703;OTTHUMP00000225704;U6 snRNA-associated Sm-like protein LSm1;cancer-associated Sm-like;cancer-associated Sm-like protein;small nuclear ribonuclear CaSm APPROVED protein-coding ENSG00000175324 20472 06281 607281 REVIEWED 1313874 LSM14A LSM14A, SCD6 homolog A (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008] 19 19 19 q13.11 31356940 31413990 + 39355311 39412048 + 34663352 34720420 + 737633;6480464 12477932 17081983;16484376;15489334;14702039;17074753;18723115;18029348;22939629;22973032;19322201;20360068;21139048;22745163;15851029;22053931;22614839 26065 B4DTG6;I3L4Q1;K7EMZ9;Q8ND56 AB069974;AB069975;ABBA01004323;ABBA01004324;ABBA01004325;AC010614;AC210437;AK027369;AK027643;AK127401;AK300208;AL117499;AL833221;AL834398;AMYH01009712;BC016842;NM_001114093;NM_015578 AAH16842;BAB55066;BAB55259;BAC99045;BAC99046;BAG61978;CAB55964;CAD39060;NP_001107565;NP_056393;Q8ND56 Hs.744009 1645364;1689243;1738983;1797214;1822366;2041966;2138994;2140551;2145658 CSAP26E;D19S1104;D19S802;ECD12271;REN92021;RH44323;RH70420;RH93647;WI-15149 C19orf13;DKFZp434D1335;FAM61A;RAP55;RAP55A LSM14 homolog A;RNA-associated protein 55;RNA-associated protein 55A;alphaSNBP;chromosome 19 open reading frame 13;family with sequence similarity 61, member A;hRAP55;hRAP55A;protein LSM14 homolog A;protein SCD6 homolog;putative alpha-synuclein-binding protein APPROVED protein-coding ENSG00000257103 24489 12697 610677 VALIDATED 1606981 LSM12 LSM12 homolog (S. cerevisiae) 17 17 17 q21.31 38820096 38853084 - 39467530 39499531 - 42112003 42144987 - 6480464 21145461;17353931;15225602;14702039;12477932;16169070;22990118;22939629;16196087;21139048;21890473;21906983;22190034 124801 K7ELG9;Q3MHD2 ABBA01028388;ABBA01028389;ABBA01028390;ABBA01028391;ABBA01028392;AC023855;AF277193;AK055218;AK300637;AL832076;AMYH01008410;BC016791;BC044587;BC066298;BC105288;CH471178;NM_152344 AAH44587;AAI05289;BAB70877;BAG62326;EAW51639;NP_689557;Q3MHD2 Hs.355570 1728975;1733370;1745983 D17S1184;D5Bwg0676e;RH125247 FLJ30656;MGC104211;PNAS-135 protein LSM12 homolog protein-coding ENSG00000161654 26407 08701 611793 VALIDATED 3362200 LSM6P1 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 1 18 18 18 q21.33 56003446 56003686 - 57436549 57436789 - 59285569 59285809 - 100129011 ABBA01056188;AC090409;AMYH01009045;NG_016615 1676252 RH93775 HsT818;LSM6P pseudo 31738 INFERRED 3051011 LSM6P2 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 2 12 12 48960678 48960854 + 50164743 50164919 + 100462857 ABBA01031534;AC131157;AMYH01004446;NG_021717 pseudo 37811 INFERRED 1351489 LSM14B LSM14B, SCD6 homolog B (S. cerevisiae) 20 20 20 q13.33 57432693 57445609 + 60130912 60143829 + 60697517 60710434 + 6480464 16344560;15489334;14702039;12477932;11780052;16169070;21139048;21906983;22053931;22505724 149986 Q5TBP9;Q5TBQ0;Q5TBQ1;Q9BX40 ABBA01040106;AF165185;AF172328;AK058202;AK298748;AL078633;AL137077;AMYH01012044;BC035702;BC054888;BC057387;BM547301;BX370449;BX375905;CH471077;CX166280;DB336439;NM_144703 AAD46654;AAD52585;AAH57387;BAB71714;BAG60891;EAW75401;EAW75402;EAW75403;EAW75404;EAW75405;NP_653304;Q9BX40 Hs.105379 1679812 RH92552 C20orf40;FAM61B;FLJ25473;FT005;LSM13;MGC61931;RAP55B;bA11M20.3 LSM14 homolog B;OTTHUMP00000031461;OTTHUMP00000031463;Putative uncharacterized protein C20orf40;RNA-associated protein 55B;chromosome 20 open reading frame 40;family with sequence similarity 61, member B;hRAP55B;protein LSM14 homolog B protein-coding ENSG00000149657 15887 12768 VALIDATED 1350592 LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011] 6 6 6 p21.3 33363418 33372989 - 31873152 31882722 - 31765169 31774761 - 1580863;6480464;6907045 10523320;15231747;12226669;18095154;16169070;15592455;15489334;14667819;14656967;12515382;12477932;11991638;11920408;11275683;10931946;10851237;8428774;10601333;16189514;11971955;19913121;20628086;17620012;17643375;19615732;19851445;15342556;22863883;22939629;18781797;19471022;21139048 57819 Q9Y333 ABBA01038086;AF134726;AF136977;AF182288;AF196468;AI570628;AJ245416;AL662834;AL671762;AL929592;AMYH01016217;BA000025;BC009192;BP203102;BU189898;CH471081;CR542146;CR542157;CR759787;CR759915;CR925765;NM_021177 AAD21818;AAD56226;AAG33023;AAG49438;AAH09192;ABM83829;ABM87538;BAB63302;CAB52190;CAG46943;CAG46954;EAX03525;EAX03526;NP_067000;Q9Y333 Hs.103106 1697904;2140943 RH102480;STS-AA035265 C6orf28;G7b;YBL026W;snRNP OTTHUMP00000029159;U6 snRNA-associated Sm-like protein LSm2;protein G7b;small nuclear ribonuclear protein D homolog;snRNP core Sm-like protein Sm-x5 APPROVED protein-coding ENSG00000204392 13940 06282 607282 REVIEWED 1314318 LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 3 3 3 p25.1 14158457 14178097 + 14195341 14214842 + 14220228 14239869 + 6480464;6907045 15231747;10369684;16169070;15489334;14667819;12515382;12477932;11991638;11920408;10851237;10523320;16189514;16344560;17643375;22939629;21139048;21628590 27258 P62310 ABBA01025161;AC093495;AF182289;AF182418;AJ238095;AK312189;AMYH01012996;BC007055;CH471055;CR457185;DB289601;DB499707;NM_014463 AAD56227;AAG14954;AAH07055;BAG35122;CAB45866;CAG33466;EAW64190;NP_055278;P62310 Hs.111632 SMX4;USS2;YLR438C OTTHUMP00000160275;U6 snRNA-associated Sm-like protein LSm3 APPROVED protein-coding 17874 06283 607283 VALIDATED 1345160 LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 4 4 4 q31.22 144416300 144430678 + 147316285 147330663 + 147096835 147111213 + 6480464;6907045 15231747;10523320;15489334;12515382;12477932;11920408;10851237;10369684;19615732;21832049;22939629;21890473 11157 P62312 ABBA01070044;AC097372;AF182292;AI351504;AJ238098;AK312126;AMYH01014600;BC016026;BC019894;CH471056;DB465201;NM_007080 AAD56230;AAH16026;AAY41032;ABM83254;ABW03308;BAG35062;CAB45869;EAX05029;EAX05030;EAX05031;NP_009011;P62312 Hs.190520 1676252;2172283 RH93775;SHGC-59433 YDR378C OTTHUMP00000220223;OTTHUMP00000220224;OTTHUMP00000220225;OTTHUMP00000221100;Sm protein F;U6 snRNA-associated Sm-like protein LSm6 APPROVED protein-coding ENSG00000164167 17017 06286 607286 VALIDATED 1315632 LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 19 19 19 p13.11 18319475 18335755 - 18278717 18294962 - 18417040 18434001 - 1580863;6480464;6907045 15231747;17353931;10523320;10369684;19240061;19088440;17178857;16189514;15905169;15489334;12515382;12477932;11920408;10931946;10851237;11971955;17643375;19615732;20360068;8889548;22939629;21139048;21890473;21906983;12549820 25804 M0QXB0;Q9Y4Z0 AA722246;ABBA01051257;AC008397;AF117235;AF182290;AF251218;AJ238096;AMYH01009591;BC000387;BC003652;BC022198;BC023665;BF432099;BQ069184;BU539495;BX096089;CF147062;CH471106;DB493307;NM_001252129;NM_012321 AAD56228;AAF17216;AAF90055;AAH00387;AAH03652;AAH22198;AAH23665;ACE87088;ACE87767;CAB45867;EAW84686;EAW84687;EAW84688;EAW84689;NP_001239058;NP_036453;Q9Y4Z0 Hs.515255 1776061;1778019;5095012 G29334;LSM4;RH64873 GRP;YER112W GRP;U6 snRNA-associated Sm-like protein LSm4;glycine-rich protein APPROVED protein-coding ENSG00000130520 17259 06284 607284 REVIEWED 5129375 LSP1P1 lymphocyte-specific protein 1 pseudogene 1 13 13 q12.13 6655095 6655231 + 25591540 25591676 + 100463528 ABBA01007898;AL590099;AMYH01004978;NG_023189 pseudo 39716 INFERRED 6481435 LSP1P2 lymphocyte-specific protein 1 pseudogene 2 3 75444339 75444473 + 100873967 ABBA01030984;AC139453;AMYH01013288;NG_032351 pseudo 39717 INFERRED 1318552 LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 7 7 7 p14.3 32508861 32518784 - 32492942 32496502 - 32524945 32534870 - 1580863;6480464;6907045 10369684;15231747;16344560;16341674;15489334;14702039;12690205;12515382;12477932;11920408;11591653;10851237;10523320;17207965;22939629;21139048;21890473;22365833;23362303;22505724 23658 B8ZZF8;F8W8Y8;Q9Y4Y9 AACC02000087;ABBA01056837;AC018641;AF182291;AJ238097;AK022772;AK024217;AMYH01017155;BC005938;BC040717;BF667238;BF700164;BM786181;CH471073;CX782029;DA736378;FB336553;HH767892;NM_001130710;NM_001139499;NM_012322;NR_024466 AAD56229;AAH05938;ADQ33157;CAB45868;CAR81224;CBX84702;EAL24440;EAW93990;EAW93991;NP_001124182;NP_001132971;NP_036454;Q9Y4Y9 Hs.424908 1847645;1855837;2144988;5020948 G35510;GDB:594250;SHGC-56022;SHGC-56023 FLJ12710;YER146W OTTHUMP00000123495;OTTHUMP00000202663;OTTHUMP00000202664;OTTHUMP00000202665;OTTHUMP00000202666;OTTHUMP00000202667;U6 snRNA-associated Sm-like protein LSm5 APPROVED protein-coding ENSG00000106355 17162 06285 607285 VALIDATED 1313330 LSM7 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004] 19 19 19 p13.3 2255614 2262707 - 2272520 2279574 - 2321520 2328614 - 1580863;6480464;6907045 10523320;12165861;15231747;15489334;15057824;14667819;12515382;12477932;11920408;11591653;10851237;14603251;15452143;17643375;19615732;22939629;21890473;21906983 51690 K7EML7;K7ENY5;Q9UK45 ABBA01002722;AC005258;AF182293;AMYH01009279;BC018621;BI553911;CH471139;FB336555;HH767894;NM_016199 AAC25622;AAD56231;AAG45442;AAH18621;ABM86086;ABM86327;ABW03771;CAR81225;CBX84703;EAW69389;EAW69390;NP_057283;Q9UK45 Hs.512610 1653571 RH47890 YNL147W U6 snRNA-associated Sm-like protein LSm7 APPROVED protein-coding ENSG00000130332 20470 06287 607287 VALIDATED 1603947 LSMD1 LSM domain containing 1 17 17 17 p13.1 7787824 7788993 - 7700728 7701897 - 7760003 7761172 - 6480464 12477932;21890473;21906983;21963094;22505724 84316 I3L3Z2;I3L4V0;Q9BRA0 ABBA01054889;AC104581;AF530060;AMYH01008086;BC006407;BC033861;BC051846;BC059944;CH471108;NM_032356 AAH06407;AAH33861;AAH51846;AAH59944;AAQ09944;ABM84216;ABM84245;ABM87633;EAW90123;NP_115732;Q9BRA0 Hs.565094 2191317 MARC_17348-17349:1021492261:7 MGC14151;MGC74837;PFAAP2 LSM domain-containing protein 1;phosphonoformate immuno-associated protein 2;regulated by phosphonoformate protein-coding ENSG00000183011 28212 17491 PROVISIONAL 1606916 LSMEM1 leucine-rich single-pass membrane protein 1 7 7 7 q31.1 106932874 106942905 + 111908282 111918178 + 112120908 112130943 + 6480464 16344560;14702039;12690205;12477932;8889549;21832049 286006 Q8N8F7 AA121517;AACC02000001;ABBA01057846;AC005192;AK096894;AMYH01017861;BC031976;BC126149;BC130568;CH236947;CH471070;DA894907;DA898266;DB456503;NM_001134468;NM_182597 AAI26150;AAI30569;ADR82831;BAC04886;EAL24374;EAW83464;EAW83465;NP_001127940;NP_872403;Q8N8F7 Hs.396189 1699256;1852768 RH103209;STS-AA035585 C7orf53;FLJ39575;MGC161427;MGC163440;MGC42850 OTTHUMP00000207390;OTTHUMP00000207392;coiled-coil domain-containing transmembrane protein C7orf53;hypothetical protein LOC286006 APPROVED protein-coding ENSG00000181016 22036 08258 VALIDATED 6483669 LSP1P3 lymphocyte-specific protein 1 pseudogene 3 5 p13.3 28926977 28927420 + 12477932;17903296 729862 Q0VAF9 ABBA01066690;AC010385;AMYH01014983;BC121073;BC121074;NR_033961 AAI21074;AAI21075 Hs.646006 MGC150340 pseudo 39718 VALIDATED 1602071 LSMEM2 leucine-rich single-pass membrane protein 2 3 3 3 p21.31 50289343 50298377 + 50291522 50300549 + 50316518 50325545 + 15489334;14702039;12477932;21832049 132228 Q8N112 ABBA01024552;AK095927;AMYH01013168;BC028000;CH471055;NM_153215;U73167;U90094 AAH28000;ACE86783;ACE87469;BAC04652;EAW65068;NP_694947;Q8N112 Hs.315177 1684152;2108165;2157644 IFRD2_8768;RH76408;SHGC-76999 C3orf45;FLJ38608 OTTHUMP00000211056;hypothetical protein LOC132228;uncharacterized protein C3orf45 APPROVED protein-coding ENSG00000179564 26781 08789 PROVISIONAL 1350273 LST1 leukocyte specific transcript 1 The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 6 6 p21.3 31661950 31664665 + 31553956 31556686 + 2316570;2316565;6480464 16362817;9808588 21102463;14667819;10944527;11478849;7590964;10706707;19019335;18818748;14656967;14574404;12646700;12477932;11828009;10668961;10562324;9367684;8824804;1352700;19913121;20628086;20663564;20668555;20689807;15090600;19242354;19527514;19663701;19773279;19851445;20173083;20854863;17192395;22589543 7940 A3KH01;A8MT08;F2Z2M1;H7C4M3;H7C4Z3;Q2HNT4;Q5HYT5;Q5STB1;Q9UJR6 ABBA01038081;AF000424;AF000425;AF000426;AF129756;AI091696;AJ705986;AL662801;AL662847;AL929587;AMYH01016217;AV711621;AV715235;AW925228;AY852265;AY852266;BA000025;BC103855;BC103856;BI838080;BX248519;BX647293;BX927320;CD742958;CH471081;CR753892;CR759886;CR942185;DQ099382;M74228;NG_030378;NM_001166538;NM_007161;NM_205837;NM_205838;NM_205839;NM_205840;NR_029461;NR_029462;U00921;Y18486;Y18487;Y18488;Y18489;Y18490 AAB57724;AAB86998;AAB86999;AAB87000;AAD18090;AAI03856;AAI03857;AAX45331;AAX45332;AAZ13758;BAB63394;CAB59903;CAB59904;CAB59905;CAB59906;CAB60038;EAX03427;EAX03428;EAX03429;EAX03430;EAX03431;EAX03432;EAX03433;EAX03434;EAX03435;EAX03436;EAX03437;EAX03438;NP_001160010;NP_009092;NP_995309;NP_995310;NP_995311;NP_995312;O00453 Hs.436066 1679712;1791003;2106183;2106185;2110493;2148169;2168186;5111600;5117003;5492625;7188787;7188789 D6S2789;D6S2790;LST1_7911;RH76281;RH76316;SHGC-63639;STS-U00921;TNFd;TNFe;UniSTS:481830 B144;D6S49E;LST-1;MGC119006;MGC119007 OTTHUMP00000029390;OTTHUMP00000029391;OTTHUMP00000029392;OTTHUMP00000029393;OTTHUMP00000029394;OTTHUMP00000029395;OTTHUMP00000029396;OTTHUMP00000029397;OTTHUMP00000029398;OTTHUMP00000029399;OTTHUMP00000166010;OTTHUMP00000166011;OTTHUMP00000166013;OTTHUMP00000166014;OTTHUMP00000166016;OTTHUMP00000166017;OTTHUMP00000166018;OTTHUMP00000166019;OTTHUMP00000215143;leucocyte specific transcript 1;leukocyte-specific transcript 1 protein;lymphocyte antigen 117 APPROVED protein-coding ENSG00000204482 14189 00172 109170;237450 REVIEWED 1353964 LTB lymphotoxin beta (TNF superfamily, member 3) Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 p21.3 31656314 31658181 - 31548335 31550202 - 1580863;6480464;6907045 22294627;21248773;21102463;7916655;9299492;19115949;18379788;18292573;17981284;16702430;15969671;15910501;15489334;15248211;15077289;15034048;14656967;12477932;12474234;11823516;10668961;10318773;10202016;9545284;9480751;9317127;9185077;8824804;8629302;8586432;8499947;8081366;7995952;7601445;7590964;2995927;1714477;1671667;1670638;9235946;19222863;19729601;19735075;19800575;19851445;19948975;20356761;20662065;21029472;19913121;20628086;21211989;22652080;22742857 4050 Q06643;Q5STB2 AB088106;AB103612;AB202114;ABBA01038081;AF129756;AK312210;AL662801;AL662847;AL929587;AMYH01016217;AY070219;AY216497;BA000025;BC055090;BC069330;BC093783;BX248519;BX927320;CH471081;CR753892;CR759886;CR942185;CS081478;L11015;L11016;NM_002341;NM_009588;U79029;U89922;Y14768 AAA36191;AAA99888;AAB37342;AAC51769;AAD18089;AAH69330;AAH93783;AAL49954;AAL49955;AAO21134;BAB63395;BAC54938;BAE78640;BAF31273;BAG35143;CAA75069;CAI95950;EAX03425;EAX03426;NP_002332;NP_033666;Q06643 Hs.376208 1685776;5492935 RH75844;UniSTS:483258 TNFC;TNFSF3;p33 LT-beta;OTTHUMP00000029185;OTTHUMP00000215145;TNF-C;lymphotoxin-beta;tumor necrosis factor C;tumor necrosis factor ligand superfamily member 3 APPROVED protein-coding ENSG00000227507 6711 02987 600978 REVIEWED 736744 LSR lipolysis stimulated lipoprotein receptor 19 19 19 q13.12 32452998 32472305 + 40431399 40450707 + 35739559 35758867 + 6480464 18029348;17975147;16303743;16083285;15489334;15324660;15057824;14702039;12477932;10224102;15778465;21245199;21139048;21890473;21906983;16341674;22252869;8889548 51599 B4DKL4;M0QY03;M0QZL9;M0R0W1;M0R1W9;M0R2C4;Q9UQL3 ABBA01018736;ABBA01018737;AC002128;AD000684;AF130366;AK075426;AK126834;AK130367;AK296618;AMYH01009725;BC000015;BC004381;BC047376;BM837160;BM971691;BQ711340;CF141732;JA738591;JA738593;JA738595;NM_001260489;NM_001260490;NM_015925;NM_205834;NM_205835 AAB51178;AAB58317;AAD22101;AAH00015;AAH04381;AAH47376;BAC11614;BAC86714;BAG59226;CCF76948;CCF76949;CCF76950;NP_001247418;NP_001247419;NP_057009;NP_991403;NP_991404;Q86X29 Hs.466507 1851955;2150254 RH48421;RH68134 ILDR3;LISCH7;MGC10659;MGC48312;MGC48503 LISCH protein;immunoglobulin-like domain containing receptor 3;lipolysis-stimulated lipoprotein receptor;lipolysis-stimulated receptor;lipolysis-stimulated remnant;liver-specific bHLH-Zip transcription factor;liver-specific bhlh-zip transcription factor 7 protein-coding ENSG00000105699 29572 17283 VALIDATED 1314573 LSP1 lymphocyte-specific protein 1 This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 p15.5 1830776 1870069 + 1874200 1913493 + 1580863;6480464;6907045 8125298;8274738;2174784;19232126;19094228;18973230;18437204;17997823;17827388;17529967;17481585;17296787;15489334;15188402;15090600;14702039;12972289;12477932;11746662;10925289;10233704;9890705;8995217;8838798;8468046;7706408;7561054;2674678;2295815;19913121;20554749;20605201;20628086;18029348;19656774;19718030;19789366;19843670;19856316;20054709;20095854;20145138;20237496;20417875;20453838;21297633;22454379;21127985;23119100;23182705;23128233;19700666 4046 C9J9B9;C9JDV1;C9JKF7;C9JNQ1;C9JU59;E7EMG9;E9PBD8;Q9BUY8 ABBA01012161;ABBA01012162;ABBA01012163;AC051649;AF043107;AF043349;AK056576;AK092071;AK093859;AK129684;AK222733;AK290279;AK292033;AMYH01003315;BC001785;BE043985;BQ893037;BQ893821;CH471158;CR541728;CR541754;NG_011509;NM_001013253;NM_001013254;NM_001013255;NM_001242932;NM_002339;S58726;S67783;X55188 AAB29545;AAB99825;AAC00495;AAD13906;AAH01785;BAC85216;BAD96453;BAF82968;BAF84722;BAG51753;BAG52478;CAA38971;CAG46529;CAG46554;EAX02470;EAX02471;NP_001013271;NP_001013272;NP_001013273;NP_001229861;NP_002330;P33241 Hs.56729 1737283;1798676;1798722;1799448;1799536;1799620;1799700;1799920;1800098;1800420;1800504;1800558;1801072;1802030;1802138;1802190;1802250;1802496;1803568;1803762;1803764;1803884;1804136;1805276;1805474;1806014;1806344;1806524;1811078;1813236;1817226;1818370;1818660;1821738;1822242;1825908;1828532;1832302;1834498;1845958;2089418;2089420;2089422;2089424;2089426;2089428;2089430;2089432;2089434;2089436;2089438;2089440;2089442;2089444;2089446;2089448;2089450;2089452;2089454;2089456;2089458;2089460;2089462;2089464;2089466;2089468;2089470;2089472;2089474;2089476;2089478;2089480;2089482;2089484;2089486;2089488;2089490;2089492;2089494;2089496;2089498;2089500;2089502;2089504;2089506;2089508;2089510;2089512;2089514;2089516;2089518;2089520;2089522;2089524;2089526;2089528;2089530;2089532;2089534;2089536;2089538;2089540;2089542;2089544;2089546;2089548;2089550;2089552;2089554;2089556;2089558;2089560;2089562;2089564;2089566;2089568;2089570;2089572;2089574;2089576;2089578;2089580;2089582;2089584;2089586;2089588;2089590;2089592;2089594;2089596;2089598;2089600;2089602;2089604;2089606;2089608;2089610;2089612;2089614;2089616;2089618;2089620;2089622;2089624;2089626;2089628;2089630;2089632;2089634;2089636;2089638;2089640;2089642;2089644;2089646;2089648;2089650;2089652;2089654;2089656;2089658;2089660;2089662;2089664;2089666;2089668;2089670;2089672;2089674;2089676;2089678;2089680;2089682;2089684;2089686;2089688;2089690;2089692;2089694;2089696;2089698;2089700;2180785;2216454;2216456;2216458;2216460;2216462;2216464;2216466;2216468;2216470;2216472;2216474;2216476;2216478;2216480;2216482;2216484;2216486;2216488;2216490;2216492;2216494;2216496;2216498;2217572;5108327;5108329 D11S3146;ECD00178;ECD00201;ECD00575;ECD00620;ECD00664;ECD00704;ECD00814;ECD00905;ECD01070;ECD01112;ECD01140;ECD01405;ECD01896;ECD01951;ECD01978;ECD02009;ECD02134;ECD02686;ECD02788;ECD02789;ECD02855;ECD02987;ECD03584;ECD03685;ECD03960;ECD04127;ECD04219;ECD06537;ECD07638;ECD09663;ECD10242;ECD10394;ECD11955;ECD12207;ECD14063;ECD15393;ECD17290;ECD18397;ECD24199;LSP1_2796;REN115971;REN115972;REN115973;REN115974;REN115975;REN115976;REN115977;REN115978;REN115979;REN115980;REN115981;REN115982;REN115983;REN115984;REN115985;REN115986;REN115987;REN115988;REN115989;REN115990;REN115991;REN115992;REN115993;REN115994;REN115995;REN115996;REN115997;REN115998;REN115999;REN116000;REN116001;REN116002;REN116003;REN116004;REN116005;REN116006;REN116007;REN116008;REN116009;REN116010;REN116011;REN116012;REN116013;REN116014;REN116015;REN116016;REN116017;REN116018;REN116019;REN116020;REN116021;REN116022;REN116023;REN116024;REN116025;REN116026;REN116027;REN116028;REN116029;REN116030;REN116031;REN116032;REN116033;REN116034;REN116035;REN116036;REN116037;REN116038;REN116039;REN116040;REN116041;REN116042;REN116043;REN116044;REN116045;REN116046;REN116047;REN116048;REN116049;REN116051;REN116052;REN116053;REN116054;REN116055;REN116056;REN116061;REN116062;REN116063;REN116064;REN116065;REN116067;REN116068;REN116069;REN116070;REN116071;REN116072;REN116073;REN116074;REN116075;REN116076;REN116077;REN116078;REN116079;REN116080;REN116081;REN116082;REN116083;REN116084;REN116085;REN116086;REN116087;REN116088;REN116089;REN116090;REN116091;REN116092;REN116093;REN116094;REN116095;REN116096;REN116097;REN116098;REN116100;REN116102;REN116103;REN116104;REN116105;REN116106;REN116107;REN116108;REN116109;REN116110;REN116111;REN116112;REN116113;REN116114;REN116115;REN116116;REN116117;REN116118;REN116119;REN116120;REN116121;REN116122;STS-W73739;stSG548524;stSG548525;stSG548526;stSG548527;stSG548528;stSG548530;stSG548531;stSG548532;stSG548533;stSG548534;stSG548536;stSG548537;stSG548541;stSG548542;stSG548543;stSG548544;stSG548545;stSG548546;stSG548547;stSG548548;stSG548550;stSG548551;stSG548552 WP34;pp52 47 kDa actin binding protein;47 kDa actin-binding protein;52 kDa phosphoprotein;F-actin binding and cytoskeleton associated protein;OTTHUMP00000014138;OTTHUMP00000014139;OTTHUMP00000014140;OTTHUMP00000069612;OTTHUMP00000069614;OTTHUMP00000069615;OTTHUMP00000069616;leufactin (leukocyte F-actin binding protein);leukocyte-specific protein 1;lymphocyte-specific antigen WP34;lymphocyte-specific protein 1;lymphocyte-specific protein pp52 APPROVED protein-coding ENSG00000130592 6707 01083 153432 REVIEWED 1353949 LTB4R2 leukotriene B4 receptor 2 14 14 q11.2-q12 23848001 23850798 + 24779357 24781259 + 1580863;6480464 10889186;10913346;19286633;19131661;19126593;18981151;18852255;18781173;18421027;18323512;18082638;16920986;16624877;15489890;22396544;12913925;12895595;12477932;12044878;11006272;10934230;10934229;10913347;21252614;19448154;19748928;20026606;20090768;20194723;16754659;22044535;23145117;23167751;22426480;22215047;23347335 56413 B4E292;E9PIC1;E9PNJ6;Q9NPC1 AB008193;AB029892;AB032558;AB044402;AB083604;ABBA01061340;AF277230;AF308571;AJ278605;AK304169;AL096870;AMYH01005611;AY268433;BC038437;BC119674;BC127643;CH471078;DC408599;NM_001164692;NM_019839 AAF81261;AAG40857;AAI19675;AAI27644;AAI72240;AAI72548;AAP23200;BAA99539;BAA99553;BAB00610;BAB89317;BAD83590;BAG65054;CAB96134;EAW66030;NP_001158164;NP_062813;Q9NPC1 Hs.642693;Hs.657595 1685165 RH94061 BLT2;BLTR2;JULF2;KPG_004;LTB4-R 2;LTB4-R2;NOP9 LTB4 receptor JULF2;OTTHUMP00000235299;OTTHUMP00000235300;leukotriene B4 receptor 2;leukotriene B4 receptor BLT2;seven transmembrane receptor BLTR2 protein-coding ENSG00000213906 19260 16153 605773 VALIDATED 736635 LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] 21 21 q22.3 46432788 46473119 - 47608360 47648738 - 1580863;1300048;1626611;2316857;2316919;6480464 16440058;16876788;1429550 7639730;17186944;19119143;18660489;16806233;16344560;15790807;15525992;15489334;14766201;14702039;12477932;11421484;10830953;10598817;9763219;8889548;8820110;8655142;8593458;3515096;19913121;20628086;20379614;14741744;21139048;21890473;21906983;21987572;22053931;22505724 4047 B2R694;C9J315;H7C3A5;P48449 AA922470;ABBA01021757;ABBA01021758;ABBA01021759;AJ239031;AK092334;AK096769;AK098352;AK128839;AK226141;AK296313;AK312489;AMYH01012335;AP001468;AP001469;AY927524;BC035638;BM662957;BU728696;BX443698;CH471079;D63807;DA333499;GN121355;HB965870;HB966073;HD023280;HD023483;NG_011510;NM_001001438;NM_001145436;NM_001145437;NM_002340;S81221;X87809 AAB36220;AAH35638;ABM82160;ABM85344;BAA09875;BAC03865;BAC04859;BAC05289;BAC87638;BAG35391;BAG59011;CAA61078;CAB42828;CAY34695;CBG17604;CBG17696;CBV30957;CBV31050;EAX09299;EAX09300;EAX09301;EAX09302;EAX09303;NP_001001438;NP_001138908;NP_001138909;NP_002331;P48449 Hs.596543 1654377;1674796;1693678;1757159;1790627;2119132 RH78361;SHGC-144587;SHGC-58604;SHGC-87723;SHGC-87729;STS_CEB254 FLJ25486;FLJ35015;FLJ39450;FLJ46393;OSC 2,3-epoxysqualene--lanosterol cyclase;2,3-epoxysqualene-lanosterol cyclase;2,3-oxidosqualene: lanosterol cyclase;OTTHUMP00000115784;OTTHUMP00000115785;OTTHUMP00000225573;hOSC;lanosterol synthase;oxidosqualene--lanosterol cyclase APPROVED protein-coding ENSG00000160285 6708 02945 600909 REVIEWED 1345394 LTA lymphotoxin alpha The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 p21.3 31648072 31650077 + 31539876 31542101 + 1580414;1580415;1580416;1580417;1581940;1581936;1625035;1625033;1625034;1625036;1625042;1581937;1581939;1580863;1625038;2313255;2313262;2313261;2313264;2313263;2313253;2313257;2313259;4143370;4143264;4143254;4143247;4143248;4143371;4143260;4143373;4143234;6480464;6767553;6484113;6907045;7240710 15973460;15533732;14593215;15175864;11809756;9245742;15729581;9726033;7783649;1883913;17065682;15542404;7593556;18575614;12622777;16132956;9342542;11141334;19120272;17989340;17045328;18947013;9669810;12530118;16135717;15713215;17536219;11037831;15969671;20180006;21993476 22193458;22294627;12351419;12169181;12164325;12149604;12126516;12116197;12082592;12047333;12030733;12028020;11975986;11924527;11841484;11841482;11823516;11820636;11808761;11800584;11781708;11775944;11737072;11732226;11591192;11576577;11574100;11544434;11410733;11401880;11399938;11371414;11349201;11334675;11319038;11258696;11257271;11250044;11243953;11233912;11210078;11196686;11194890;11164894;11163081;11120931;11113269;11092520;10668961;10202016;9552007;9480751;9317127;9307242;9282784;9235946;9185077;9153189;8912010;8629302;8499947;8387891;8323280;8171323;8139045;8123048;8081366;7995952;7916655;7818827;7695626;7601445;7590964;6608523;3555974;3536896;3001529;3001109;2995927;2567059;2545693;2243081;2160731;1733919;1671667;1670638;1451807;1353024;1279199;16934308;16375755;17014622;16988060;16979413;16971410;16950634;16939911;16931032;16928504;16882065;16874159;16872485;16867312;16839190;16814297;16788244;16775170;16728705;16723241;16702430;16643431;16609369;16545485;16447204;16389181;16386648;16323614;16313841;16298864;16293872;16276011;16249504;16246225;16215460;16204594;16193177;16186631;16164697;16107511;16095118;16054631;15999154;15976383;15955450;15951664;15890243;15861005;15851552;15843211;15811521;15803361;15718364;15699425;15695296;15667484;15663746;15649304;15639929;15639341;15583987;15548263;15526004;15517637;15513316;15489334;15457442;15381184;15380900;15354858;15342556;15306845;15306179;15286263;15248209;15236755;15224026;15219382;15194285;15187748;15174288;15159312;15129282;15128916;15077289;15061799;15052269;15041959;15034015;15009068;14987295;14681301;14656967;14647194;14637275;14635012;14617046;14572794;14569193;14566095;12953135;12917036;12915440;12906716;12888330;15932622;12780951;12770792;12768436;12746914;12717265;12714268;12709814;12691703;12679941;12661999;12651071;12648734;12568117;12566517;12559634;12558135;12545006;12528108;12519452;12478078;12477932;12439617;12426569;12414751;12828656;12392859;6334807;19528505;19505916;19495883;19479237;19474452;19427781;19420105;19392797;19392621;19374512;19369902;19365711;19353239;19336475;19317746;19281305;19264973;19263529;19258923;19253056;19247692;19244371;19242354;19238444;19225544;19183163;19182073;19167443;19143814;19131662;19103156;19074885;19052714;19050632;19034549;19028820;19021060;19013788;19013708;19012493;18990758;18987644;18977990;18974842;18974840;18953879;18819899;18806884;18805892;18797991;18754435;18700950;18676680;18636124;18633131;18513389;18504081;18496506;18457972;18442814;18409070;18405969;18398039;18394614;18385169;18384488;18354254;18349535;18299433;18292573;18273643;18271063;18230628;18190265;18071035;18069935;18062795;18032375;17989341;17981284;17971052;17953695;17767555;17767060;17703412;17700210;17640627;17640324;17635597;17595314;17559370;17530646;17521734;17517687;17497114;17493152;17485095;17483704;17450233;17444864;17444587;17388919;17380888;17355643;17353895;17349875;17348243;17345061;17336158;17335371;17332138;17315188;17311253;17295710;17220333;17216494;17212707;17207711;17194634;17174749;17140746;17113632;17113059;17103073;17071996;17040205;17036337;17029750;17018637;19009622;19000388;21102463;21482522;16931544;19170196;19550417;19559392;19573080;19578796;19625176;19626584;19629486;19654554;19661089;19664671;19672706;19692168;19700502;19726041;19729601;19735075;19738620;19773279;19773451;19789445;19800575;19833626;19837266;19851445;19860767;19889075;19890662;19894308;19900796;19933216;19948975;19958618;20014019;20035431;20047977;20070603;20080841;20145925;20177654;20188863;20189261;20214763;20237496;20307689;20335604;20395963;20416077;20452482;20453000;20459604;20463618;20472930;20491592;20500087;20503287;20536609;20537163;9462508;20548340;20396759;20356761;20627040;20662065;11167813;18922873;20568250;20811626;20835611;20848459;20854863;20878356;20933106;21029472;21067489;19913121;20485444;20536507;20578820;20587610;20603037;20608170;20628086;20644561;20663564;20668555;20673868;22901152;21323572;21319595;22225620;20957367;22507624;23159874;23051989;23550407;21271873;21366408;21628868;21459939;22311026;22464751;22001640;22243485;22310064;21765051;21793721;22100609;22177457;22427961;23377953;22882567;22897480;23524463;22568977;21544635 4049 P01374;Q5ST95;Q5STV3;Q6FG55 A06316;AB088112;AB103618;AB202113;ABBA01038081;AF129756;AL662801;AL662847;AL929587;AMYH01016217;AY070490;AY216498;AY274903;AY274904;AY274905;AY274906;AY274907;AY274908;AY274909;AY274910;AY274911;AY274912;AY274913;AY274914;AY274915;AY274916;AY274917;AY274918;AY274919;AY274920;AY274921;AY274922;AY274923;AY274924;AY274925;AY274926;BA000025;BC034729;BG685356;BP338937;BX108399;BX248519;BX927320;CH471081;CR542253;CR542273;CR753892;CR942185;CS081477;D00102;D12614;DQ123821;DQ123822;DQ123823;DQ123824;DQ123825;DQ123826;DQ123827;M16441;M55913;NG_007462;NG_012010;NM_000595;NM_001159740;X01393;X02911;Y14768;Z15026 AAA61199;AAB59455;AAD18092;AAH34729;AAL49956;AAO21135;AAP51421;AAP51422;AAP51423;AAP51424;AAP51425;AAP51426;AAP51427;AAP51428;AAP51429;AAP51430;AAP51431;AAP51432;AAP51433;AAP51434;AAP51435;AAP51436;AAP51437;AAP51438;AAP51439;AAP51440;AAP51441;AAP51442;AAP51443;AAP51444;AAZ32914;AAZ32915;AAZ32916;AAZ32917;AAZ32918;AAZ32919;AAZ32920;ABM82045;ABM85224;BAA00064;BAA02139;BAB63397;BAC54943;BAE78638;BAF31278;CAA00536;CAA25649;CAA26670;CAA75071;CAA78746;CAG47049;CAG47069;CAI95949;EAX03422;EAX03423;NP_000586;NP_001153212;P01374 Hs.36 1741729;1794598;1796260;2106181;2160579;2165242;5120049 D6S2791;GDB:182383;GDB:192948;LTA_189;PMC32163P1;RH17367;RH71008 LT;TNFB;TNFSF1 LT-alpha;OTTHUMP00000029184;OTTHUMP00000165897;TNF superfamily, member 1;TNF-beta;lymphotoxin-alpha;tumor necrosis factor beta;tumor necrosis factor ligand superfamily member 1 APPROVED protein-coding ENSG00000226979 6709 01084 153440;607507;608446;610988 REVIEWED 1348020 LTB4R leukotriene B4 receptor 14 14 q11.2-q12 23852357 23855992 + 24780705 24787242 + 1581956;1580863;1581954;6480464 16043658;16293697 8702478;9177352;19309698;19136615;19064572;18852255;18797182;18571838;18421027;18323512;17931111;17445804;17237498;17158791;17139258;17075244;16920986;16624877;16493075;22707565;15814727;15789613;15728714;15489334;14688279;12943671;12913925;12902330;12895595;12664610;12477932;12374694;12244116;12163367;12077128;11907121;10934230;10934229;9742207;9268704;8921391;8889549;8558062;20489206;20688055;16754659;20395453;21596548;22206291;22215047;23167751;21988832;23137534 1241 G3V244;G3V4Q5;Q15722 AA021034;AB008193;ABBA01061340;ABBA01061341;AL096870;AMYH01005611;AW242534;AY322535;BC004545;BQ182452;BT007267;BU146237;CH471078;D89078;D89079;NM_001143919;NM_181657;U33448;U41070;X98356 AAB16747;AAC50628;AAH04545;AAP35931;AAP84348;ABM84725;ABW03628;BAA20423;BAA20424;BAB00611;CAA67001;EAW66029;NP_001137391;NP_858043;Q15722 Hs.567248 2137569;2148486;2162411;5037552 D14S1352;D8S2279;RH70604;STS-AA021034 BLT1;BLTR;CMKRL1;GPR16;LTB4R1;LTBR1;P2RY7;P2Y7 G protein-coupled receptor 16;G-protein coupled receptor 16;LTB4-R 1;LTB4-R1;OTTHUMP00000164789;OTTHUMP00000164790;OTTHUMP00000246420;OTTHUMP00000246422;P2Y purinoceptor 7;chemoattractant receptor-like 1;chemokine receptor-like 1;leukotriene B4 receptor 1;purinergic receptor P2Y, G-protein coupled, 7 2315792 GLUCO171_H protein-coding ENSG00000213903 6713 03320 601531 VALIDATED 1315988 LTBP4 latent transforming growth factor beta binding protein 4 The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 19 19 q13.1-q13.2 45790912 45827565 + 41099072 41135725 + 1582112;6480464;7240710 12208849 9660815;18585707;18487557;16713569;16456143;16157329;11683420;11104663;9271198;18276110;19836010;19897194;19998449;20175115;20424473;19913121;20587546;20628086;20800603;21468687;22829427;21505857;18985028;21963094;21988832;22558309;21078624;18654987 8425 B3KXY6;E7ENG9;E7EUU1;F5GXC9;F8WAA0;M0QXV3;M0QYE9;M0QZX0;M0R351;Q8N2S1 ABBA01040777;ABBA01040778;ABBA01040779;AC010412;AF051344;AF051345;AF054501;AF054502;AK074499;AK128191;AK304612;AK309484;AMYH01009806;AMYH01009807;BQ001109;CH471126;HI574228;HI574230;HI574232;NG_021201;NM_001042544;NM_001042545;NM_003573;Y13622 AAC39879;AAC39880;AAC39881;AAC39882;BAC11024;BAG54648;BAH14224;CAA73944;CBX47603;CBX47604;CBX47605;EAW56982;EAW56983;EAW56984;EAW56985;NP_001036009;NP_001036010;NP_003564;Q8N2S1 Hs.466766 1689923;1698180;1750521;5091287;5491697 G29622;MARC_8055-8056:996688248:1;RH102626;RH94117;SHGC-111828 ARCL1C;FLJ46318;FLJ90018;LTBP-4;LTBP-4L;LTBP4L;LTBP4S latent transforming growth factor-beta binding protein 4L;latent-transforming growth factor beta-binding protein 4 APPROVED protein-coding ENSG00000090006 6717 05274 604710;613177 REVIEWED 1322731 LTA4H leukotriene A4 hydrolase 12 12 q22 94918742 94953496 - 96394531 96437298 - 1580863;2313910;2316582;2316606;2316607;6480464;6907045 17517102;17985342;12865451;15715933 11154734;1881903;17353931;11175901;19214143;19131661;19130089;19056482;18599387;18547289;18323512;18318662;16698924;16293801;16282974;15886380;15489334;12477932;11675384;11451962;10887124;9733439;9578147;9395533;8615763;7843421;7628486;6490615;3654641;3038871;2821541;2244921;2233358;1975494;1897988;1516710;1357660;16169070;19913121;20628086;20810156;20432426;20562859;20966902;18029348;19622707;19919819;20067482;20211140;20237496;15078870;21963094;22848428;23000965;22939629;22206291;18781797;21081666;21112816;21987572;22586326;16344560;21139048;21890473;21906983;19322201;21044950;23079278;22053931;22505724;23153620;18804029 4048 B4DEH5;P09960 AB209740;ABBA01053319;AC007298;AK293630;AK298017;AK301308;AK308184;AK310461;AK310522;AMYH01004677;BC032528;BC036555;BX647158;CH471054;CR457068;DB019628;DC358373;J02959;J03459;NM_000895;NM_001256643;NM_001256644;R41544;U27293 AAA36176;AAA36177;AAA89077;AAH32528;AAH36555;ADZ15951;BAD92977;BAG57086;BAG60321;BAG62860;CAG33349;EAW97557;EAW97558;EAW97559;EAW97560;NP_000886;NP_001243572;NP_001243573;P09960 Hs.524648 1672502;1855764;2111860;7186780 D12S1883;D12S206;D12S2087 FLJ17564 LTA-4 hydrolase;OTTHUMP00000243570;OTTHUMP00000243571;OTTHUMP00000243572;leukotriene A-4 hydrolase protein-coding ENSG00000111144 6710 01056 151570 VALIDATED 68547 LTBP1 latent transforming growth factor beta binding protein 1 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 p22-p21 33025896 33478080 + 33172369 33624576 + 1580863;6480464;6907045 8537398;18029348;19453261;19431147;19339270;18602101;17580303;17293099;16825507;16713569;15564041;14626352;12962157;12477932;12429738;12358597;11104663;10930463;10743502;10646116;9274625;9060478;8756760;8617200;8287682;2350783;22610502;20446778;18677313;19258388;19829035;19893584;19895311;19897194;19998449;20189936;20379614;20587546;20599762;20699357;21071877;21106222;21161366;23462118;22015652;21078624;21843572;22632886;22169532;22295116;22414291;21924590;22322529;22410565;20881960;22820497;23184937 4052 B7ZLY3;C9JD84;C9JDW2;E7EUU6;E7EV71;H7BZ76;H7C0I7;H7C2H7;H7C4L5;Q14766 AA935267;AB208801;ABBA01074904;ABBA01074905;ABBA01074906;ABBA01074907;AC019127;AC019195;AC020594;AF489528;AK298027;AK299237;AK299912;AK302857;AK315991;AL133244;AL703596;AMYH01010238;AMYH01010239;AMYH01010240;BC130289;BC144127;BC144128;BM147075;BX103725;BX472809;BX492839;CA419949;CD657511;CF995689;CH471053;DR001861;L48925;M34057;NM_000627;NM_001166264;NM_001166265;NM_001166266;NM_206943 AAA61160;AAA96327;AAI30290;AAI44129;AAM03124;AAY14953;AAY15036;AAY24260;BAD92038;BAG60329;BAG61269;BAG61750;BAG64043;BAH14362;EAX00435;EAX00436;EAX00437;EAX00438;EAX00439;NP_000618;NP_001159736;NP_001159737;NP_001159738;NP_996826;Q14766 Hs.619315 1337884;1647412;1661936;1668538;1670746;1677949;1767485;1788920;1847309;1851921;1856926;2126993;2170608;2173635;2181883;5017732 D2S1794;D2S2005;D2S2347;D2S2901;G09490;G16444;G67795;LTBP1;RH46335;RH48056;RH65879;RH69620;RH98657;WI-16788;WI-18311;WI-9249 MGC163161 LTBP-1;OTTHUMP00000201218;OTTHUMP00000201281;OTTHUMP00000201282;OTTHUMP00000201676;OTTHUMP00000201704;TGF-beta1-BP-1;lanc (bacterial lantibiotic synthetase component c)-like 1;latent-transforming growth factor beta-binding protein 1;transforming growth factor beta-1-binding protein 1 APPROVED protein-coding ENSG00000049323 6714 01039 150390 REVIEWED 68549 LTBP2 latent transforming growth factor beta binding protein 2 The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008] 14 14 q24 74034639 74148787 - 74964886 75079034 - 1580863;6480464;7240710 8964588;20617341;22743615;8697098;7798248;19453261;19361779;19182256;18697872;17581631;17293099;15063762;12716902;12508121;12477932;11870232;11104663;10930463;10743502;9709808;9685426;9150447;7719025;17474147;19656777;19681046;19817957;19851296;20198315;20424473;21041550;20179738;20587546;21081970;22515403;21700711;21737283;21698479;21540769;22587491;22025892;23218701;20301314;22827404;20881960;22539340;20301293 4053 G3V254;G3V3X5;G3V511;H0YJ20;Q14767 AB209865;ABBA01030715;ABBA01030716;ABBA01030717;AC005479;AC013451;AF113211;AMYH01005856;BC032434;BC047742;BC062686;BC078659;CB054045;CH471061;NG_021486;NM_000428;S82451;Z37976 AAB37459;AAF87081;AAG39282;AAH78659;BAD93102;CAA86030;EAW81182;EAW81183;NP_000419;Q14767 Hs.512776;Hs.597522 1670499;1682565;1716945;2140600;2143576;2151600;2162647;5096485;5119462 D14S1174;D14S1193;D14S1250;G35817;RH11328;RH121852;RH70743;RH98192;SHGC-24140 C14orf141;GLC3D;LTBP3;MSPKA;MSTP031;WMS3 LTBP-2;OTTHUMP00000246131;OTTHUMP00000246132;OTTHUMP00000246133;latent-transforming growth factor beta-binding protein 2 APPROVED protein-coding ENSG00000119681 6715 03650 251750;602091;613086;613097;614819 REVIEWED 736405 LTBP3 latent transforming growth factor beta binding protein 3 The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] 11 11 q13.1 65062850 65082006 - 65306030 65325699 - 6480464;7240710 16751776;19453261;19344874;18672106;16223572;16157329;15489334;15231748;14702039;12477932;12358597;12154076;12062452;11846885;11104663;10930463;10743502;9620332;7798248;7719025;19897194;20708005;20587546;21078624;21700711;21988832;23263486 4054 B9EG76;E9PJR2;E9PKW1;E9PPT7;E9PQR0;E9PR75;E9PR84;E9PRF2;F5GWC4;H0YC99;H0YCQ2;H0YCX6;H0YE75;Q8WYU6;Q9NS15 ABBA01024112;ABBA01024113;AF011407;AF135960;AF135961;AF318354;AK024477;AK090750;AK097212;AK124524;AK126126;AK127484;AK298858;AK299351;AK309230;AL117551;AMYH01003721;AP000769;AP001362;BC008761;BC136277;CH471076;DQ572158;NG_016437;NM_001130144;NM_001164266;NM_021070 AAB64201;AAF62352;AAF62353;AAH08761;AAI36278;AAL55861;BAB15767;BAG54046;BAG60980;BAG61347;CAB55988;EAW74401;EAW74402;EAW74403;EAW74404;EAW74405;NP_001123616;NP_001157738;NP_066548;Q9NS15 Hs.289019 1770095;1773880;2109533;2158869;5037552;5109281 D1S1425;D8S2279;L18006;MTVR1_9385;RH65764;WI-15382 DKFZp586M2123;FLJ33431;FLJ39893;FLJ42533;FLJ44138;FLJ45576;LTBP-3;LTBP2;STHAG6;pp6425 OTTHUMP00000233545;OTTHUMP00000233546;OTTHUMP00000233549;OTTHUMP00000233550;latent TGF beta binding protein 3;latent-transforming growth factor beta-binding protein 3 APPROVED protein-coding ENSG00000168056 6716 03649 251750;602090;613086;613097;614819 REVIEWED 733491 LTC4S leukotriene C4 synthase The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. [provided by RefSeq, Jul 2008] 5 5 q35 179153592 179156119 + 179220986 179223513 + 1300048;2313910;2316612;2316641;2302283;6480464;6907045;7240710 17517102;19908283;7827126;18461660 20980252;9435249;9113110;9092565;8898379;8626689;8446623;7937884;7663172;1517222;10436863;8706658;19233132;8052639;1454853;7599836;19524426;19479237;19450127;19280718;19263529;19247692;19223558;19214143;19131662;19131661;19080797;19028820;18974840;19080532;18366797;18323512;18276912;17924829;17883728;17632548;17632546;17483957;17460547;17291864;17153879;17110605;17063752;16730545;16675353;16340173;16293801;16211251;16024972;15530365;15489334;15131571;14749922;14520724;12968987;12816731;12728163;12664565;12591277;12589355;12477932;12360108;12063521;11934880;11770699;11034337;10970815;10673221;10591082;21078989;19559392;19703064;19862937;19956635;20128419;20395963;20456754;20536507;20603037;21454538;21307858;22722751;21729626;22217203;23079278;22884858 4056 B5MCC3;D6RJA1;Q16873 ABBA01010042;AC008393;AI480325;AK312033;AMYH01015958;BC029498;BI597970;BI819419;CH471165;NG_028161;NM_145867;U09353;U11552;U50136;U62025 AAA20467;AAA50555;AAB06723;AAC50476;AAH29498;ABM81888;ABM85060;BAG34970;EAW53796;EAW53797;EAW53798;EAW53799;NP_665874;Q16873 Hs.706741 MGC33147 LTC4 synthase;OTTHUMP00000197039;leukotriene C4 synthase;leukotriene-C(4) synthase APPROVED protein-coding ENSG00000213316 6719 02004 246530;614037 REVIEWED 1319608 LTK leukocyte receptor tyrosine kinase The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 15 15 q15.1-q21.1 39583132 39593369 - 41795840 41806085 - 1580863;6480464 7685902;16344560;14695357;12477932;12237455;12107410;9223670;8995435;8910363;8427607;8084603;7851890;2836739;2320375;2156206;1655406;17910947;10445845;22347506;19815557 4058 H3BVG6;P29376 ABBA01038404;AC016134;AC087721;AK296892;AK314006;AMYH01006574;BC045607;BC143903;BX329448;CA394397;CH471125;CS542498;D16105;DA452723;DB331746;NM_001135685;NM_002344;NM_206961;X52213;X60702 AAH45607;BAA03679;BAG59451;CAA36460;CAA43113;CAM91186;EAW92494;EAW92495;EAW92496;EAW92497;EAW92498;EAW92499;EAW92500;EAW92501;NP_001129157;NP_002335;NP_996844;P29376 Hs.434481 1670691;1678209;1778234;1847315;2161114;2166326;7186318 G06356;RH78391;RH80861;SHGC-30069;STS-T16315;STS-X54938 TYK1 OTTHUMP00000160858;OTTHUMP00000160859;leukocyte tyrosine kinase receptor;protein tyrosine kinase 1 APPROVED protein-coding ENSG00000062524 6721 01052 151520 REVIEWED 6769468 LTV1P1 LTV1 homolog (S. cerevisiae) pseudogene 1 4 q27 121012204 121013416 - 100289220 ABBA01044719;AC097173;AMYH01014488;NG_022033 pseudo 44049 INFERRED 1319795 LTBR lymphotoxin beta receptor (TNFR superfamily, member 3) This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012] 12 12 p13 6363618 6370993 + 6484534 6500737 + 1580863;6480464;6907045 12761501;9371602;12393901;10200501;9817170;9626059;9511754;9202035;9122217;8995654;8663299;8530100;8486360;7916655;11279055;9162022;8171323;18412315;18347013;18292573;17896993;17360402;17336158;17010447;16934497;16002734;15917993;15489334;14702039;14517219;12571250;12566458;12485937;12477932;12466117;12419817;12169272;12083416;10799510;10318773;10207006;20568250;19423540;19773279;19800575;20185819;20237496;20348096;20406964;20438785;9462508;20592286;21195057;20599198;19593445;21245292;22044682;20423844;21139048;10229841;10753918;11092613;12387745;15236187;16272360;16344560;17018619;17355640;20603617;22152226;8642291;8798772;9029113;9388227;9882379;22417320;7859281;20732415 4055 F5H1S5;F5H2E7;F5H627;F5H6F8;P36941 AB125676;ABBA01017642;AC005840;AK027080;AK095418;AK128019;AK293187;AMYH01004202;BC026262;BX648074;CH471116;DA679291;DC424721;JA362588;L04270;NG_033039;NM_001270987;NM_002342 AAA36757;AAH26262;ABM82921;ABM86111;BAD01488;BAG53051;BAH11468;CCA94576;EAW88801;EAW88802;NP_001257916;NP_002333;P36941 Hs.1116 1775378;1777304;1797832;2172515;5037552 D12S1911;D8S2279;G16208;LTBR_2435;RH45015 CD18;D12S370;LT-BETA-R;TNF-R-III;TNFCR;TNFR-RP;TNFR2-RP;TNFR3;TNFRSF3 OTTHUMP00000238625;OTTHUMP00000238626;TNF-RIII;TNFR superfamily, member 3;TNFR-III;lymphotoxin B receptor;lymphotoxin-beta receptor;tumor necrosis factor C receptor;tumor necrosis factor receptor 2-related protein;tumor necrosis factor receptor superfamily member 3;tumor necrosis factor receptor superfamily, member 3;tumor necrosis factor receptor type III APPROVED protein-coding ENSG00000111321 6718 02988 600979 REVIEWED 5130586 LUC7L3P1 LUC7-like 3 (S. cerevisiae) pseudogene 1 13 13 51567142 51568086 - 70665071 70666015 - 100420198 ABBA01050311;AL160391;AMYH01005196;NG_024867 pseudo 39790 INFERRED 1313477 LTF lactotransferrin This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 3 3 p21.31 46452500 46481399 - 46477496 46506598 - 1580863;6480464;7243106;7243107;7243109;7243948;7243943;7243953;7243945;7243861;7243860 23201854;19202053;16905637;17922408;9791051;10030017;8296641;23425819;21532506 22173721;9122171;22523385;22586326;22320386;22380846;22553915;22763972;15222485;15222484;15221967;15166119;14702039;14573629;12826902;12788072;12774664;12766201;12710738;12646274;12565886;12563088;12535064;12525164;12477932;12450380;12438385;12296849;12165535;12165435;12097406;12065686;12037568;11937551;11911118;11908641;11908638;11787671;11756570;11748357;11730482;11702692;11697537;11549422;11083760;10944471;10666301;10558865;10340976;10089508;10089347;9873069;9359845;9003186;8870657;7762432;7744878;7049727;6794640;6510420;3995055;3477300;3356163;3028636;2585506;2402455;2374734;2049066;1703177;1661314;1544444;1480183;17353931;9770539;19435495;19334538;19258923;19240970;19033648;18977241;18973542;18785755;18697201;18619616;18453607;18285402;18156281;18022620;17947640;17703412;17601350;17597152;17568188;17543335;17515863;17503830;17476971;17475866;17461450;17390038;17342646;17211147;17208010;17079302;17030385;17015741;16954396;1369293;1327110;16928883;15709021;9781360;11313366;9223490;15588942;12522210;1464627;16936811;16936805;16936800;16842782;16820307;16787913;16769765;16650524;16644090;16432833;16261256;16261253;16208406;16152584;15993972;15955101;15851553;15793153;15543612;15525592;15489334;15378004;15364102;15299793;15297857;20587610;20673868;20922188;11907569;19282435;19348738;19382280;19454813;19651866;19834535;19916937;19997820;20136960;20237496;20345905;20379614;20452482;20485928;20503287;20207115;19563039;20404350;20594128;20155438;20411301;15342556;21502085;21055448;20401683;20598696;20668874;22406253;21572958;21400573;20360068;21163060;11083624;20972893;21935933;20963400;20238236;21937479;22118674;21139048;22900286;22226679;22006997;21525168;22433582;22261723;23479198;22011934;11675140;12103434;14717698;15222480;18183929;21847071;23460521;22806010;22731992;23077236;23314748 4057 C9J0S5;C9JCF5;E7EQB2;E7ER44;Q9UCY5 ABBA01024714;AC098613;AF332168;AF508798;AK093852;AK290859;AK292813;AK298035;AK303889;AK303995;AK316330;AMYH01013130;AY137470;AY156717;AY165046;AY178998;AY360320;AY493417;AY875691;BC015822;BC015823;BC022347;BP342557;CD722125;CH471055;DQ522304;EU779935;M18642;M73700;M83202;M83205;M93150;NG_023257;NM_001199149;NM_002343;S52659;U07643;U84119;U95626;X52941;X53961 AAA36159;AAA58656;AAA59479;AAA59511;AAA86665;AAB24877;AAB57795;AAB60324;AAG48753;AAH15822;AAH15823;AAH22347;AAN11304;AAN63998;AAN75578;AAN84790;AAO14686;AAR12276;AAS72878;AAW71443;ABF69105;ABM83781;ABM87101;ACF19793;BAF83548;BAF85502;BAG52774;BAG64824;BAG64912;BAH12708;BAH14701;CAA37116;CAA37914;EAW64767;NP_001186078;NP_002334;P02788 Hs.529517 1713403;1721261;1731407;1741447;1857875 D3S1478;D3S4169;G59627;GDB:181215;RH119558 GIG12;HLF2;LF OTTHUMP00000209779;OTTHUMP00000209780;OTTHUMP00000209781;growth-inhibiting protein 12;lactoferrin;lactotransferrin;neutrophil lactoferrin;talalactoferrin APPROVED protein-coding ENSG00000012223 6720 01028 150210 REVIEWED 1322590 LTN1 listerin E3 ubiquitin protein ligase 1 Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010] 21 21 21 q22.11 15483199 15548010 - 29222337 29287095 - 30300466 30365277 - 1580863;6480464 14702039;12477932;10830953;9872452;19196968;20379614;20835226;19690564;21697133;21903422;22118674;21139048;21890473;21565611 26046 H7BYG8;Q9NUY5 AB018257;AB621822;ABBA01057245;ABBA01057246;ABBA01057247;AF129075;AF161350;AF260011;AK001915;AK023499;AL163248;AL163249;AMYH01012187;BC007525;BC029371;BC031633;BC045726;BC140790;BC150284;BF059116;CH471079;DB452437;NM_015565 AAF28910;AAH29371;AAI40791;AAI50285;BAA34434;BAA91976;BAB14589;BAK64157;CAB90429;CAB90430;EAX09935;EAX09936;EAX09937;NP_056380;O94822 Hs.288773 1650429;1659060;1669539;1673302;1678369;1731391;1734362;2218676;5492149 AFM144xc3;D21S1223;D21S1701;G34593;RH93127;SHGC-7635;SHGC-87530;ZNF294__4812;Zfp294 C21orf10;C21orf98;FLJ11053;KIAA0714;RNF160;ZNF294 E3 ubiquitin-protein ligase listerin;OTTHUMP00000096472;RING finger protein 160;zinc finger protein 294 APPROVED protein-coding ENSG00000198862 13082 10327 613083 VALIDATED 1322627 LTV1 LTV1 homolog (S. cerevisiae) 6 6 6 q24.2 144904917 144925352 + 144206201 144226636 + 144164508 144184943 + 6480464 14702039;12477932;17207965;22939629;22863883;18029348;19471022;21906983;21963094;20360068 84946 Q96GA3 ABBA01025744;AK027815;AK091447;AK300360;AL049844;AMYH01016723;BC009855;CH471051;NM_032860 AAH09855;ADQ32684;BAB55388;BAG62100;EAW47858;EAW47859;EAW47860;NP_116249;Q96GA3 Hs.185675 1686758;1849820;2171719;5019251;5019831 A009Z26;DXS7944;G33020;RH16386;RH99001 C6orf93;FLJ14909;FLJ18519;dJ468K18.4 OTTHUMP00000017340;protein LTV1 homolog protein-coding ENSG00000135521 21173 12906 PROVISIONAL 7246623 LUCAT1 lung cancer associated transcript 1 (non-protein coding) 14702039;16344560;23672216 100505994 ABBA01062167;AC123595;AK091866;AMYH01015480;BQ232757;DA373878;DA375303;DA713469;NR_103548;NR_103549;XR_108596;XR_112753;XR_171517 Hs.745403 5022651;5111739 AL033747;D11S2921 SCAL1 miscrna ENSG00000248323 48498 VALIDATED 1318546 LUC7L2 LUC7-like 2 (S. cerevisiae) This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q34 133782802 133846369 + 138695174 138758740 + 139025105 139108203 + 737633;1580863;6480464 12477932 19574390;17726058;17656373;17353931;17081983;16344560;16169070;15635413;15489334;15383276;15324660;15231748;14702039;12853948;10810093;17643375;19710015;20098747;17207965;19454010;22863883;22990118;19584937;21832049;22939629;12777385;16051665;17043677;18781797;21900206;19953087;21139048;21555454;21890473;21906983;17361185;19322201;21628590;21145461 51631 C9JWT3;F8WB41;F8WEU3;Q9Y383 AACC02000024;AACC02000025;ABBA01001188;AC083880;AC083883;AF151817;AF151832;AK001476;AK001519;AK022895;AK092044;AK093864;AK094081;AK095839;AK298166;AMYH01017976;AU144525;BC017163;BC041001;BC042625;BC050708;BC056886;CH236950;CH471070;DA342563;DB086483;HY018775;NG_030012;NM_001244585;NM_001270643;NM_016019 AAD34054;AAD34069;AAH17163;AAH42625;AAH50708;AAH56886;AAS07477;ACE86770;ACE87456;ADQ32722;BAA91713;BAA91737;BAB14297;BAG52473;BAG52777;BAG52810;BAH12736;EAW83916;EAW83917;EAW83918;NP_001231514;NP_001257572;NP_057103;Q9Y383 Hs.731488 1662890;1674956;1676774;1697928;1847024;1857073;2120401;2143432;5014003;5015619;5015861;5016851;5021228;5024413;5037552;7185938 D10S16;D11S3114;D17S1136;D7S1625;D8S2279;GDB:312794;L17877;RH102493;RH36239;RH80031;RH91232;SGC30686;SGC38047;SHGC-17271;SHGC-37384 CGI-59;CGI-74;FLJ10657;LUC7B2;hLuc7B2 H_NH0792N18.3;OTTHUMP00000200420;putative RNA-binding protein Luc7-like 2 APPROVED protein-coding ENSG00000146963 21608 17456 613056 REVIEWED 1604358 LUC7L3 LUC7-like 3 (S. cerevisiae) This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009] 17 17 q21.33 46151976 46185071 + 48796926 48830072 + 6480464 10631324;19574390;10754390;12565863;17726058;17353931;16482509;16344560;15324660;15146197;14702039;12477932;11329013;8125298;21145461;22558309;20677014;16462885;17643375;18029348;18663000;19710015;20237496;15798186;19454010;20508642;14729963;22939879;21182205;22939629;22990118;21859973;19471022;21139048;21906983;22318606 51747 A8K3C5;B4DJ96;C9JL41;D6RDI2;D6RHH0;E7EN55;H0YA81;H0YAR4;H0YAX1;H0YAY6;H0YBV7;H7C5U7;J3KPP4;O95232;Q86Y74 ABBA01041244;ABBA01041245;AC005921;AF069250;AF147357;AK001925;AK023672;AK027723;AK225980;AK290540;AK295983;AL050121;AMYH01008475;AMYH01008476;BC002925;BC047043;BC056409;BC061896;BG213545;CH471109;CN271700;DA231851;DQ013876;NM_006107;NM_016424 AAC79807;AAH02925;AAH47043;AAH56409;AAI56955;AAY26238;BAA91981;BAF83229;BAG51216;BAG58758;EAW94583;EAW94584;EAW94585;EAW94586;EAW94587;NP_006098;NP_057508;O95232 Hs.130293 1778144;2137924;2139184;2169381;2170036;2190505 D17S1482E;EST12G4;RH45275;RH45304;SGC31696;SHGC-2641 CRA;CREAP-1;CROP;LUC7A;OA48-18;hLuc7A CRE-associated protein 1;OTTHUMP00000221730;OTTHUMP00000221731;OTTHUMP00000221733;OTTHUMP00000221734;cAMP regulatory element-associated protein 1;cisplatin resistance associated overexpressed protein;cisplatin resistance-associated overexpressed protein;cisplatin resistance-associated-overexpressed protein;luc7-like protein 3;okadaic acid-inducible phosphoprotein OA48-18 APPROVED protein-coding ENSG00000108848 24309 16759 609434 REVIEWED 1316796 LUC7L LUC7-like (S. cerevisiae) The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 437860 478332 - 178971 219450 - 238970 279449 - 1580863;6480464 17353931;17081983;15489334;15383276;14702039;12477932;11170747;11157797;8125298;16169070;19913121;20628086;19615732;17207965;20508642;22990118;21139048;21555454;15840729;21628590;21988832;22365833;23263863 55692 A8MYV2;B8ZZ08;B8ZZ09;B8ZZ10;B8ZZ12;F2Z322;F8WBC1;H7C2U4;Q1W6G4;Q9NQ29 ABBA01030384;ABBA01030385;ABBA01030386;AE006462;AJ404326;AK001093;AK097974;AK223084;AMYH01006987;AY005111;BC003194;BC065198;BX647161;CH471112;DQ431198;NM_018032;NM_201412;Z69706;Z69890 AAG22846;AAH03194;AAH65198;AAK61218;ABD95913;ADQ32579;BAA91500;BAD96804;CAB93981;CAB93982;CAM26669;CAM26670;CAM26671;CAM26672;CAX15222;CAX15223;CAX15224;EAW85850;EAW85851;EAW85852;EAW85853;EAW85854;EAW85855;EAW85856;EAW85857;EAW85858;EAW85859;EAW85860;NP_060502;NP_958815;Q9NQ29 Hs.16803 1687241;1799810;1803128;1803758;1805244;1805714;1805938;1811572;1811938;1815166;1820348;1823126;1824094;1826162;1826320;1829770;1831270;1831808;1835696;1836190;1836922;1837236;1838152;1838876;1844920;1846206;1846310;2047756;2047758;2047760;2047762;2047764;2047766;2047768;2047770;2047772;2047774;2047776;2047778;2047780;2047782;2047784;2047786;2047788;2047790;2047792;2047794;2047796;2047798;2047800;2047802;2047804;2047806;2047808;2047810;2047812;2047814;2047816;2047818;2047820;2047822;2047824;2047826;2047828;2047830;2047832;2047834;2047836;2047838;2047840;2047842;2047844;2047846;2047848;2047850;2047852;2047854;2047856;2047858;2047860;2047862;2047864;2047866;2047868;2047870;2047872;2047874;2047876;2047878;2047880;2047882;2047884;2047886;2047888;2047890;2047892;2047894;2047896;2047898;2047900;2047902;2047904;2047906;2047908;2047910;2047912;2047914;2047916;2047918;2047920;2047922;2047924;2047926;2047928;2047930;2047932;2047934;2047936;2047938;2047940;2047942;2047944;2047946;2047948;2047950;2047952;2047954;2047956;2047958;2047960;2047962;2047964;2047966;2047968;2047970;2047972;2047974;2047976;2047978;2047980;2047982;2047984;2047986;2047988;2047990;2047992;2047994;2047996;2047998;2048000;2048002;2048004;2048006;2048008;2048010;2048012;2048014;2048016;2048018;2048020;2048022;2048024;2048026;2048028;2048030;2048032;2048034;2048036;2048038;2048040;2048042;2048044;2048046;2048048;2048050;2048052;2048054;2048056;2048058;2048060;2048062;2048064;2048066;2048068;2048070;2048072;2048074;2048076;2048078;2048080;2048082;2048084;2048086;2104478;2104480;2104482;2104484;2104486;2104488;2104490;2104492;2104494;2104496;2104498;2104500;2104502;2104504;2104506;2104508;2104510;2104512;2104514;2104516;2104518;2104520;2107295;2171334;5016478;5109281;5118250 D11S3159;D1S1425;ECD00759;ECD02455;ECD02786;ECD03567;ECD03807;ECD03922;ECD06789;ECD06973;ECD08617;ECD11249;ECD12651;ECD13143;ECD14191;ECD14273;ECD16017;ECD16771;ECD17042;ECD19005;ECD19256;ECD19625;ECD19785;ECD20248;ECD20617;ECD23676;ECD24323;ECD24375;GDB:434012;LUC7L__7341;REN95014;REN95015;REN95016;REN95017;REN95018;REN95019;REN95020;REN95021;REN95022;REN95023;REN95024;REN95025;REN95026;REN95027;REN95028;REN95029;REN95030;REN95031;REN95032;REN95033;REN95034;REN95035;REN95036;REN95037;REN95038;REN95039;REN95040;REN95041;REN95042;REN95043;REN95044;REN95045;REN95046;REN95047;REN95048;REN95049;REN95050;REN95051;REN95052;REN95053;REN95054;REN95055;REN95056;REN95057;REN95058;REN95059;REN95060;REN95062;REN95063;REN95064;REN95065;REN95066;REN95067;REN95068;REN95069;REN95070;REN95071;REN95072;REN95073;REN95074;REN95075;REN95076;REN95077;REN95078;REN95079;REN95080;REN95081;REN95082;REN95083;REN95084;REN95085;REN95086;REN95087;REN95088;REN95089;REN95090;REN95091;REN95092;REN95093;REN95094;REN95095;REN95096;REN95097;REN95098;REN95099;REN95100;REN95101;REN95102;REN95103;REN95104;REN95105;REN95106;REN95107;REN95108;REN95109;REN95110;REN95111;REN95112;REN95113;REN95114;REN95115;REN95116;REN95117;REN95118;REN95119;REN95120;REN95121;REN95122;REN95123;REN95124;REN95125;REN95126;REN95127;REN95128;REN95129;REN95130;REN95131;REN95132;REN95133;REN95134;REN95135;REN95136;REN95137;REN95138;REN95139;REN95140;REN95141;REN95142;REN95143;REN95144;REN95145;REN95146;REN95147;REN95148;REN95149;REN95150;REN95151;REN95152;REN95153;REN95154;REN95155;REN95156;REN95157;REN95158;REN95159;REN95160;REN95161;REN95162;REN95163;REN95164;REN95165;REN95166;REN95167;REN95168;REN95169;REN95170;REN95171;REN95172;REN95173;REN95174;REN95175;REN95176;REN95177;REN95178;REN95179;REN95180;RH46576;SHGC-60792;stSG608935;stSG608936;stSG608937;stSG608938;stSG608939;stSG608940;stSG608941;stSG608942;stSG608943;stSG608945;stSG608946;stSG608947;stSG608948;stSG608949;stSG608950;stSG608952;stSG608954;stSG608955;stSG608956;stSG608957;stSG608960;stSG608962 FLJ10231;LUC7-LIKE;LUC7B1;Luc7;SR+89;hLuc7B1 OTTHUMP00000067165;OTTHUMP00000067166;OTTHUMP00000067167;OTTHUMP00000194916;putative RNA-binding protein Luc7-like 1;putative SR protein LUC7B1;sarcoplasmic reticulum protein LUC7B1 APPROVED protein-coding ENSG00000007392 6723 08476 607782 VALIDATED 7204786 LUZP4P1 leucine zipper protein 4 pseudogene 1 10 21536681 21537001 + 101060111 ABBA01034505;AL731547;AMYH01002169 pseudo 44904 MODEL 2290193 LUZP6 leucine zipper protein 6 A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 genes, which are located on chromosome 7. A cryptic ORF at the 3' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008] 7 7 7 q33 130348855 130399560 - 135611503 135662204 - 135611503 135662204 - 16982933;16344560 767558 K7EQW5;Q538Z0 AA742560;AACC02000025;ABBA01001128;ABBA01001129;AC015987;AF106075;AK055660;AK056225;AK309816;AL110137;AL834231;AMYH01017960;AMYH01017961;AY611627;BC028093;BC034722;CH236950;DA325904;NM_001128619 AAH28093;AAP97226;AAU14892;BAG51651;CAD38909;NP_001122091;Q538Z0 Hs.602015 1770135;1775406;1786246;2153263 RH70309;SHGC-141825;STS-N23029;WI-21170 MPD6;MTPNUT leucine zipper protein 6;myeloproliferative disease-associated 6 kDa antigen;myeloproliferative disease-associated SEREX antigen;myeloproliferative disease-associated antigen, 6-kD;myotrophin 3'UTR transcript APPROVED protein-coding 33955 611050 REVIEWED 1344357 LUM lumican This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008] 12 12 q21.3-q22 90021363 90029673 - 91497232 91505542 - 1582117;1582123;1582120;1582121;1582122;1580863;2317230;2317695;2317682;2317692;2317694;724427;6480464 15970583;14996436;15871312;11890723;11348051;19843670;1385211;17671699;18482974;12787392;12645630 10892350;10802664;14718574;10734230;7665616;19643966;19616852;19394140;19330863;19060265;19036156;19020750;19012040;19008226;18620607;18477477;18093185;17558846;17050378;16902402;16760896;16335952;15505028;15489334;15466200;15336555;15149859;14760718;14720136;12477932;12366811;11956587;11016924;10656267;8889549;8595806;8125298;7558030;22228989;20819773;19913121;20628086;20357198;16169070;19569180;19686741;20010793;20138170;20360993;22721676;21421073;22073367;21885486;22809227;23480731;21988832;22441960;23399832;23284291;22814255 4060 P51884;Q53FV4 AA036658;ABBA01053409;AC078873;AK223177;AK312682;AMYH01004652;BC007038;BC035997;BG548387;BT006707;CH471054;NM_002345;U18728;U21128 AAA85268;AAA91639;AAH07038;AAH35997;AAP35353;ABM83480;ABM86691;BAD96897;BAG35562;EAW97449;NP_002336;P51884 Hs.406475 1661393;1667339;1669395;1669716;1732580;1745251;1790229;2159366 D12S805;GDB:596270;RH18011;RH44503;RH48690;RH69649;RME09;SHGC-35342 LDC;SLRR2D KSPG lumican;OTTHUMP00000242889;keratan sulfate proteoglycan lumican;lumican;lumican proteoglycan APPROVED protein-coding 6724 02793 600616 REVIEWED 1605156 LURAP1 leucine rich adaptor protein 1 1 1 1 p34 44956745 44974672 + 46441593 46459746 + 46669006 46686928 + 6480464 16710414;16189514;15489334;14702039;12477932;21048106;18854160 541468 Q96LR2 ABBA01050844;ABBA01050845;AI077554;AK057892;AL672043;AMYH01000582;BC034422;BX370151;CH471059;CR746264;NG_009205;NM_001013615 AAH34422;ADZ15857;BAB71608;EAX06931;NP_001013633;Q96LR2 Hs.568642 5016352 L30021 C1orf190;FLJ25163;LRAP35a;LRP35A NF-kappa-B activator C1orf190;OTTHUMP00000008903;hypothetical protein LOC541468;leucine repeat adapter protein 35A;leucine repeat adaptor protein 35a;leucine rich adaptor protein 1 APPROVED protein-coding ENSG00000171357 32327 18478 VALIDATED 1317610 LURAP1L leucine rich adaptor protein 1-like 9 9 9 p23 12707578 12755676 + 12765012 12813059 + 12775012 12823059 + 6480464 15489334;15221005;15164053;14702039;12766061;12477932;16341674;21832049 286343 Q8IV03 AB073606;ABBA01065319;AK074752;AK095824;AL138753;AL157828;AMYH01019230;AMYH01019231;BC036923;BE464662;BM739457;BX508229;CD678148;NM_203403 AAH36923;ADR82650;BAC04633;BAD38643;NP_981948;Q8IV03 Hs.445356 1670705;1670707;2170010 RH16529;SHGC-33182;WI-13707 C9orf150;FLJ38505;FLJ90271;HYST0841;MGC46502;bA3L8.2 OTTHUMP00000021058;hypothetical protein LOC286343;leucine rich adaptor protein 1-like;uncharacterized protein C9orf150 APPROVED protein-coding 31452 12944 VALIDATED 736317 LUZP1 leucine zipper protein 1 This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 1 1 1 p36 21732655 21817493 - 23284038 23367925 - 23410516 23495351 - 61655;6480464 8812416 21145461;17081983;16710414;15489334;15342556;14702039;12693554;12477932;20508642;21139048;22266860;23000965;22505724 7798 E5RFK8;E5RHU7;Q05DE3;Q86V48 ABBA01059861;ABBA01059862;AK000297;AK025345;AK074153;AK093016;AL031428;AL049576;AL161672;AL831896;AMYH01000356;AMYH01000357;AMYH01000358;BC002428;BC016175;BC033219;BC051733;BP200621;CH471134;NM_001142546;NM_033631 AAH16175;AAH33219;AAH51733;ABZ92513;BAB84979;EAW95034;EAW95035;EAW95036;NP_001136018;NP_361013;Q86V48 Hs.257900 1339560;1672567;1687542;1732874;1758797;1790289;1847438;2141863;2149024;2160262;2162910;5015619;5037552 D11S3114;D14S1232;D1S1299;D1S458;D8S2279;KS165;RH16407;RH80648;SHGC-151074;SHGC-33933;SHGC-74361;SHGC-74367;SHGC-74372 FLJ35697;KIAA0601;LUZP OTTHUMP00000003262;leucine zipper protein 1 APPROVED protein-coding ENSG00000169641 14985 03250 601422 REVIEWED 1347178 LUZP2 leucine zipper protein 2 This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 11 11 11 p14.3 24655784 25243047 + 24475132 25060762 + 24518516 25104186 + 6480464 19084217;18519826;12975309;12856284;12477932;20700443;20379614;16344560;22589738;22881374 338645 E9PP05;Q86TE4 ABBA01060996;ABBA01060997;ABBA01060998;ABBA01060999;AC023869;AC040968;AC067902;AC087373;AC115990;AC135168;AK126974;AK127695;AK309077;AL832641;AMYH01003448;AMYH01003449;AY164460;AY358386;BC042863;BC132829;BC144177;BC151234;CH471064;DA706662;NG_030588;NM_001009909;NM_001252008;NM_001252010;X81895 AAI32830;AAQ88752;ADR83136;BAC87089;CAD90000;EAW68308;NP_001009909;NP_001238937;NP_001238939;Q86TE4 Hs.144138;Hs.655032 1340392;1342065;1645805;1694654;1709050;1711006;1722469;1737647;1752639;1755157;1763415;1779097;2138573;2167140;2174355;2186699;5022450 D10S275;D11S1090;D11S2278E;D11S3251;D11S4084;D11S4163;D11S4387;D11S4566;G43504;G60158;RH78228;SHGC-106494;SHGC-142080;SHGC-147128;SHGC-17511;SHGC-79632;SHGC-84882 FLJ45795;KFSP2566;PRO6246 OTTHUMP00000231905;OTTHUMP00000231906;leucine zipper protein 2 APPROVED protein-coding ENSG00000187398 23206 17348 608178 REVIEWED 1346509 LY6G5C lymphocyte antigen 6 complex, locus G5C LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.33 33242682 33246372 - 31752440 31756120 - 31644461 31648150 - 6480464 18835879;12079290;19851445;17192395 80741 F8WBQ4;H7BYB1;Q5SQ59 AA179679;AA731226;ABBA01038084;AF129756;AJ315540;AJ315541;AJ315542;AJ315543;AJ315544;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BX511262;CH471081;CR354443;CR753842;CR759761;NM_025262 AAD18080;AAI40343;AAI41638;BAB63384;CAC85522;CAC85542;EAX03478;EAX03479;EAX03480;EAX03481;NP_079538;Q5SRR4 Hs.25738 1858487;5109281 D1S1425;RH15840 C6orf20;G5c;LY6G5CA;LY6G5CB;NG33 OTTHUMP00000063241;lymphocyte antigen 6 complex locus protein G5c;lymphocyte antigen-6 G5C APPROVED protein-coding ENSG00000204428 13932 14328 610434 VALIDATED 1349012 LY6G5B lymphocyte antigen 6 complex, locus G5B LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.3 33236949 33238448 + 31746707 31748206 + 31638728 31640227 + 6480464 19143814;19023099;17975119;17008713;12079290;8812450;19913121;20628086;19851445;21963094;19738201;23521802 58496 N0E641;Q9UMQ0 ABBA01038084;AF129756;AJ245417;AJ315545;AK289364;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BX511262;CF264683;CH471081;CR354443;CR753842;CR759761;HE864450;NM_021221 AAF04397;AAI40261;AAI46530;AAI72589;BAB63385;BAF82053;CAB52191;CAC85543;CCI79687;EAX03476;EAX03477;NP_067044;Q8NDX9 Hs.708719 1712122;1712306;1790303;2116736;2189381 CSNK2B;D6S2007;G54062;G54110;MARC_3347-3348:991937077:1 C6orf19;G5b OTTHUMP00000060098;OTTHUMP00000060099;OTTHUMP00000205616;lymphocyte antigen 6 complex locus protein G5b;lymphocyte antigen-6 G5B;lymphocyte antigen-6 G5B splicing isoform 690 APPROVED protein-coding 13931 10063 610433 VALIDATED 1352485 LUZP4 leucine zipper protein 4 This gene encodes a protein which contains two sets of heptad repeats in the N-terminus; the C-terminal most repeats form a leucine zipper domain. The presence of a leucine zipper domain suggests the protein may have DNA-binding activity and the protein has been shown to localize with a spliceosome protein (PMID: 12032826). [provided by RefSeq, Aug 2011] X X X q23 114959452 114977280 + 114430548 114448377 + 114524292 114542121 + 6480464 16344560;14702039;12032826;11051238;12477932 51213 B3KSD6;Q5JX98;Q9P127 ABBA01053660;ABBA01053661;ABBA01053662;ABBA01053663;AC239923;AF124430;AK093369;AK314765;AL109751;AMYH01022854;AW118228;BC128134;BC128135;CH471120;DB041564;HC044609;NG_021297;NM_016383 AAF28870;AAI28135;AAI28136;BAG37303;BAG52698;CAC09922;CAI42482;CBH30634;EAX02616;NP_057467;Q9P127 Hs.242183 CT-28;CT-8;CT28;HOM-TES-85 CT-28;HOM-TES-85 tumor antigen;OTTHUMP00000023874;OTTHUMP00000023875;cancer/testis antigen 28;leucine zipper protein 4;tumor antigen HOM-TES-85 APPROVED protein-coding ENSG00000102021 24971 06589 300616 REVIEWED 737325 LXN latexin This gene encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases. [provided by RefSeq, Oct 2008] 3 3 3 q25.32 156806788 156813067 - 159866900 159873176 - 158384203 158390482 - 1580863;6480464 17353931;15738388;15489334;12477932;11455960;17207965;22939629;23028717;21466706;21567403 56925 H7C5A4;Q9BS40 ABBA01058813;AC025033;AC080013;AF087851;AF282594;AF282626;AF303587;AMYH01013609;BC005346;BC008438;CH471052;NG_008441;NM_020169 AAF82807;AAH05346;AAH08438;AAK69518;AAL09331;AAP97162;ACE86723;ACE87409;ADQ32822;EAW78683;EAW78684;NP_064554;Q9BS40 Hs.478067 1698760 RH102943 ECI;TCI MUM;OTTHUMP00000213517;endogenous carboxypeptidase inhibitor;latexin;tissue carboxypeptidase inhibitor APPROVED protein-coding ENSG00000079257 13347 14327 609305 REVIEWED 1344908 LY6G6C lymphocyte antigen 6 complex, locus G6C LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.33 33284651 33287736 - 31794404 31797489 - 31686425 31689511 - 1304532;6480464 10384126 14656967;12975309;12477932;12079290;19851445;19913121;20628086 80740 G3V1A8;O95867 ABBA01038084;AF129756;AJ012008;AJ315533;AJ315534;AL662899;AL670886;AL844216;AMYH01016217;AY359119;BA000025;BC036302;BX248244;CH471081;CR354443;CR759787;CR936239;NG_029044;NM_025261 AAD18076;AAH36302;AAQ89477;BAB63379;CAB46081;CAC85539;EAX03490;EAX03491;NP_079537;O95867 Hs.732272 2107297;2130309;2144142 LY6G6C__7344;RH65853;SHGC-57410 C6orf24;G6c;NG24 OTTHUMP00000029367;lymphocyte antigen 6 complex locus protein G6c;lymphocyte antigen-6 G6C APPROVED protein-coding ENSG00000204421 13936 14329 610435 VALIDATED 1348643 LY6G6E lymphocyte antigen 6 complex, locus G6E (pseudogene) LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008] 6 6 6 p21.3 33277981 33280070 - 31788092 31789568 - 31679753 31681842 - 6480464 19116923;17008713;16344560;12477932;12079290;10553908;10384126;19851445 79136 A2ABS3;A2ABS4;B7ZCA4;Q9UKT1 ABBA01038084;AF129756;AJ245419;AJ315538;AJ315539;AL662899;AL670886;AL844216;AMYH01016217;BA000025;BC069141;BX248244;CH471081;CR354443;CR759787;CR936239;DA786728;NR_003673;NR_024541 AAF04398;BAB63381;CAB52193;EAX03488;EAX03489 Hs.247883 1338813;2106199;2106201;2189747;5494023;7183494;7184081;7184139;7184140;7185886;7187268 22-38114;D6S273;D6S2783;N3_2_4;UniSTS:480737 C6orf22;FLJ50806;G6e APPROVED pseudo 13934 14330 610437 VALIDATED 1354154 LY6G6D lymphocyte antigen 6 complex, locus G6D LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009] 6 6 6 p21.3 33281361 33283807 + 31791112 31793560 + 31683133 31685581 + 6480464 12079290;10384126;12477932;19423540;19807019;20406964;20438785 58530 F6XWZ1;O95868;Q5SQ65 ABBA01038084;AF129756;AJ012008;AJ315535;AJ315536;AJ315537;AL662899;AL670886;AL844216;AMYH01016217;BA000025;BC125138;BX248244;CH471081;CR354443;CR759787;CR936239;NM_021246 AAD18077;AAI25139;BAB63380;CAB46082;CAC85540;CAC85541;EAX03486;NP_067069;O95868 Hs.591792 1338813;7183493;7183494;7184010;7184081;7184139;7184140;7185886;7187268 D6S273 C6orf23;G6D;LY6-D;MEGT1;MGC150334;NG25 OTTHUMP00000070738;OTTHUMP00000070739;lymphocyte antigen 6 complex locus protein G6d;lymphocyte antigen-6 G6D;megakaryocyte-enhanced gene transcript 1 protein;protein Ly6-D APPROVED protein-coding ENSG00000244355 13935 16192 606038 VALIDATED 1342827 LY6G6F lymphocyte antigen 6 complex, locus G6F The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008] 6 6 6 p21 33272902 33276590 + 31782663 31786351 + 31674684 31678372 + 6480464 12852788;12477932;20587610;19851445;17192395 259215 A2BEY5;Q5SQ64;Q9NZJ1 ABBA01038084;AF129756;AJ496460;AL662899;AL670886;AL805934;AMYH01016217;BA000025;BC137212;BC137213;BX248244;CH471081;CR354443;CR753842;CR759787;NM_001003693 AAD18078;AAI37213;AAI37214;BAB63382;CAD42968;EAX03487;NP_001003693;Q5SQ64 Hs.591794 2106197 D6S2760 C6orf21;G6f;LY6G6D;NG32 OTTHUMP00000029369;lymphocyte antigen 6 complex locus protein G6f;lymphocyte antigen 6 complex, locus G6D APPROVED protein-coding ENSG00000204424 13933 12878 611404 PROVISIONAL 1351321 LY6E lymphocyte antigen 6 complex, locus E 8 8 q24.3 144171300 144175199 + 144099902 144103827 + 1580863;6480464 8650192;18755862;15489334;12516096;12477932;11784869;11576217;9575182;9551972;9366413;8757598;8125298;18990604;19672991;20237496;16712791 4061 E5RGI6;E5RI33;E5RI58;E5RIQ1;E7EWF8;Q16553 ABBA01005278;AC083982;AF085875;AK129615;AK223074;AK311983;AMYH01019097;BC003392;BC119708;BC119709;BU625581;CB138313;CH471162;DB458093;NM_001127213;NM_002346;U42376;U56145;U66711;Z68179 AAB07513;AAC50519;AAC50616;AAH03392;AAI19709;AAI19710;BAD96794;BAG34922;CAA92321;EAW82285;EAW82286;EAW82287;EAW82288;EAW82289;EAW82290;NP_001120685;NP_002337;Q16553 Hs.521903 1676646 RH80139 RIG-E;RIGE;SCA-2;SCA2;TSA-1 OTTHUMP00000227386;OTTHUMP00000227387;OTTHUMP00000227407;OTTHUMP00000227411;OTTHUMP00000227413;OTTHUMP00000227414;OTTHUMP00000227415;OTTHUMP00000227416;OTTHUMP00000227418;OTTHUMP00000227419;ly-6E;lymphocyte antigen 6E;retinoic acid induced gene E;retinoic acid-induced gene E protein;stem cell antigen 2;thymic shared antigen 1 protein-coding ENSG00000160932 6727 03227 601384 VALIDATED 5131384 LY75-CD302 LY75-CD302 readthrough This locus represents naturally occurring read-through transcription between the neighboring lymphocyte antigen 75 (LY75) and CD302 molecule (CD302) genes. Alternative splicing results in multiple transcript variants encoding fusion products that share sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 2 q 160625139 160761267 - 12824192;20967262 100526664 O60449 ABBA01004868;ABBA01004869;ABBA01004870;AC009961;AC093873;AMYH01011206;AY184222;AY314006;NM_001198759;NM_001198760 AAN85434;AAP79899;AAY14943;AAY24189;NP_001185688;NP_001185689 Hs.153563 1649421;1858014;2119134;2125281;2170991;5037552 A007L02;D2S2971;D8S2279;RH25260;RH70502;SGC30020 DEC-205/DCL-1 fusion;LY75-CD302 fusion protein;OTTHUMP00000220536;OTTHUMP00000220537 APPROVED protein-coding ENSG00000248672 38828 VALIDATED 1314571 LY6D lymphocyte antigen 6 complex, locus D 8 8 8 q24 140176029 140177739 - 143863300 143865010 - 143866298 143868008 - 1580863;6480464 7790363;17474147;15489334;15340161;12477932;9551972;9366413;8889548;17207965;23075424 8581 Q14210;Q8N4D8 ABBA01005288;AC083841;AK312164;AMYH01019093;BC022806;BC031330;BC034542;BM019592;BU689475;CH471162;NM_003695;U66837;X82693;Y12642 AAB07524;AAH22806;AAH31330;AAH34542;ADQ32149;BAG35098;CAA58014;CAA73189;EAW82297;EAW82298;NP_003686;Q14210 Hs.415762 2137945 RH18136 E48;Ly-6D OTTHUMP00000227232;e48 antigen;lymphocyte antigen 6D protein-coding ENSG00000167656 13348 09370 606204 VALIDATED 1345514 LY6K lymphocyte antigen 6 complex, locus K 8 8 8 q24.3 140092617 140096675 + 143778533 143782613 + 143781529 143785588 + 737633;6480464 12477932 18089789;14702039;12516096;18029348;20237496;16751776;22988241;21987572;22072328 54742 E5RGJ8;H0YB07;Q17RY6 ABBA01005289;AC108002;AI740834;AJ001348;AK092545;AMYH01019091;BC001291;BC117142;BC117144;BE258596;BG491223;CB528496;CH471162;NM_001160354;NM_001160355;NM_017527 AAH01291;AAI17143;AAI17145;CAA04692;EAW82310;EAW82311;NP_001153826;NP_001153827;NP_059997;Q17RY6 Hs.69517;Hs.716823 1651123;2107299;5015961;5022322;5022576;5109281 D11S2560;D15S1477;D1S1361;D1S1425;LY6K__7345;RH65649 CT97;FLJ35226;HSJ001348;ly-6K OTTHUMP00000227296;OTTHUMP00000227334;cancer/testis antigen 97;ly-6K;lymphocyte antigen 6K protein-coding 24225 17457 615093 VALIDATED 1343680 LY75 lymphocyte antigen 75 2 2 q24 160368112 160469508 - 160659866 160761267 - 6480464 9553150;18519810;17592270;17229838;12824192;11058570;10980384;10233701;9862343;8855966;8595155;21323541;19203752;19706888;20237496;22865700;11337467;12477932;16344560;21413003;22988114;21887537;22736794;22841832 4065 O60449;Q59H44 AA279177;AB208915;ABBA01004868;ABBA01004869;ABBA01004870;AC009961;AC093873;AF011333;AF064827;AK310678;AMYH01011206;AU099700;BC057232;DB135177;DB146492;DB150194;NM_002349 AAC17636;AAC62622;AAI72265;AAY14943;AAY24189;BAD92152;NP_002340;O60449 Hs.153563 1696904;1796262;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;LY75_172;RH101918 CD205;CLEC13B;DEC-205;GP200-MR6;LY-75 C-type lectin domain family 13 member B;OTTHUMP00000162895;OTTHUMP00000220536;OTTHUMP00000220537;ly-75;lymphocyte antigen 75 protein-coding ENSG00000054219 6729 05161 604524 VALIDATED 1323593 LY6H lymphocyte antigen 6 complex, locus H 8 8 8 q24.3 140549466 140552209 - 144310706 144313116 - 144239331 144242053 - 1580863;6480464 9799603;15489334;15342556;12477932;3028776;16169070;20237496 4062 J3KQI0;O94772 AB012293;ABBA01005271;AC083982;AK314139;AMYH01019098;AMYH01019099;BC028894;BC030192;BC053355;BI914261;BP347868;CH471162;CR457034;DB471677;DB502453;NM_001130478;NM_001135655;NM_002347 AAH28894;AAH30192;ABM84514;ABM85870;BAA34115;BAG36829;CAG33315;EAW82277;EAW82279;NP_001123950;NP_001129127;NP_002338;O94772 Hs.159590 NMLY6 OTTHUMP00000206889;OTTHUMP00000206890;OTTHUMP00000206891;ly-6H;lymphocyte antigen 6H protein-coding ENSG00000176956 6728 04691 603625 VALIDATED 1318055 LY9 lymphocyte antigen 9 LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008] 1 1 q23.3 159032552 159064669 + 160765864 160798045 + 1580863;6480464 7797269;18216865;16710414;16365421;15905546;15879090;12621057;12477932;12242590;11689425;11477068;11389028;11369645;10970093;9110174;8619474;8537117;20237496;17207965;22989874;22184727;21606160 4063 E7EME5;Q05CA2;Q0VAI0;Q5VYH7;Q5VYH8;Q5VYH9;Q5VYI1;Q9HBG7;R4GNG7 ABBA01016611;AF055708;AF055709;AF244129;AI378426;AK128573;AK292048;AK303403;AL121985;AL354714;AMYH01001453;AY007142;BC027920;BC042905;BC062589;BC064485;BC121049;BG546913;BX090162;CH471121;DC406206;L42621;NM_001033667;NM_001261456;NM_001261457;NM_002348 AAA92623;AAF21753;AAF21754;AAG02002;AAG14995;AAH27920;AAH64485;AAI21050;ADQ32178;BAF84737;BAG64457;EAW52695;EAW52696;EAW52697;EAW52698;EAW52699;EAW52700;EAW52701;NP_001028839;NP_001248385;NP_001248386;NP_002339;Q9HBG7 Hs.403857 1335027;1651689;2147005;2217574;5015861;5015961;5020740;7185938;7186362 D10S16;D15S1477;D1S484;L17809;LY9_2650;SHGC-64119;STS-L42621 CD229;SLAMF3;hly9;mLY9 OTTHUMP00000025671;OTTHUMP00000025672;OTTHUMP00000025673;OTTHUMP00000025675;SLAM family member 3;T-lymphocyte surface antigen Ly-9;cell surface molecule Ly-9;cell-surface molecule Ly-9;signaling lymphocytic activation molecule 3 APPROVED protein-coding ENSG00000122224 6730 02817 600684 VALIDATED 2303895 LY86-AS1 LY86 antisense RNA 1 6 6 6 p25.1 7576359 7852837 - 6305823 6567927 - 6346698 6623059 - 16344560;14702039;12477932;20038947 285780 Q8NBC3 ABBA01022019;ABBA01022020;AK091027;AL031123;AL133326;AL137181;AL162719;AL512305;AMYH01016057;AMYH01016058;BC031936;CH471087;DA148042;NR_026970 BAC03570;EAW55187;EAW55188;EAW55189;EAW55190 Hs.655737 1339142;1644333;1663028;1678133;1682261;1688070;1755891;1785998;2119719;2120148;2130873;2131048;2146413;2146881;2168947 D6S1442;D6S1677;D6S2141;RH68066;RH76559;RH79038;RH93579;RH93816;SHGC-142730;SHGC-154802;SHGC-36971;SHGC-52702;SHGC-59926;SHGC-59953;STS-F10068 FLJ33708;LY86-AS;LY86AS APPROVED miscrna ENSG00000216863 26593 08165 VALIDATED 1349135 LY96 lymphocyte antigen 96 This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010] 8 8 q21.11 75066144 75103859 + 74903564 74941314 + 1580863;5685019;6480464;6907045;7247704 21741580;22119168 11435474;18845299;18810425;18650420;18559343;18519568;18424732;18384879;18325643;18251133;18215718;18181766;17977838;17956942;17934216;17803912;17592304;17569869;17545685;17404865;17093906;16940155;16785528;16754682;16547263;16338228;16275943;16177092;15694388;15557191;15489334;15337750;15328161;15121639;15111623;15057266;14607928;12960171;12754215;12738639;12642668;12594207;12477932;12324469;11976338;11923281;11717200;11593030;11466383;10359581;19252480;15276183;12447442;14556004;14625308;16024789;19423540;19321453;19254290;19201903;19200604;19064998;18991397;22433852;11160242;10891475;19710105;20730709;20592019;19209789;19556306;19584052;19632992;19783674;19840833;20018893;20092898;20377740;20435923;21037101;21048031;21130168;21191086;15840729;21948372;21389010;20848773;21572044;21738462;21918188;20699280;20805788;21924775;22872782;21988832;23059983 23643 E5RJJ7;Q9Y6Y9 AB018549;AB446498;ABBA01041977;AC022868;AC087672;AF168121;AMYH01018798;BC020690;BG435728;CH471068;HI574322;NM_001195797;NM_015364 AAF89635;AAH20690;BAA78717;BAG55275;CBX47650;EAW87024;NP_001182726;NP_056179;Q9Y6Y9 Hs.726603 1336921;2118608;7186814 D8S417;D8S526 ESOP-1;MD-2;MD2;ly-96 ESOP-1;OTTHUMP00000226858;OTTHUMP00000226888;ly-96;lymphocyte antigen 96;myeloid differentiation protein-2;protein MD-2 APPROVED protein-coding ENSG00000154589 17156 05579 605243 REVIEWED 1320546 LY86 lymphocyte antigen 86 6 6 6 p25.1 7818693 7884995 + 6533933 6600215 + 6588934 6655216 + 1580863;6480464 14574404;9763566;19255686;18001295;16907704;15489334;15340161;12477932;10079183;9686597;20038947;20237496;17207965;20935629;21130168;21832049;21959264;21426727;10880523 9450 O95711 AB020499;ABBA01022020;ABBA01022021;AF057178;AL031123;AMYH01016058;AY931019;BC038846;CD695164;CH471087;NM_004271 AAC98152;AAH38846;AAY17402;ADQ32509;BAA76410;EAW55191;EAW55192;NP_004262;O95711 Hs.653138 1336771;1678133;1694214;1774988;2107301;2119719;2131048;2146413;2146881 AL035199;D6S1442;D6S1668;LY86__7346;RH68066;RH93579;SHGC-33709;SHGC-59926;SHGC-59953 MD-1;MMD-1;RP1-80N2.1;dJ80N2.1 MD-1, RP105-associated;OTTHUMP00000015993;ly-86;lymphocyte antigen 86;protein MD-1 protein-coding 16837 05578 605241 VALIDATED 1604346 LYAR Ly1 antibody reactive 4 4 4 p16.3 4167051 4189521 - 4320337 4342744 - 4269428 4291896 - 6480464 17353931;11256614;16381901;16169070;16083285;15489336;15489334;14702039;12477932;12429849;11790298;11230166;11076863;8491376;21145461;19710015;23383273;21386990;21182205;22990118;12777385;21903422;20972266;21139048;21907836;21044950;21628590;22952844 55646 D6RDJ1;Q9NX58 ABBA01008244;AC011744;AF229835;AI418609;AK000432;AK290750;AL136750;AMYH01013900;BC015796;BQ775341;CH471131;CR533548;NM_001145725;NM_017816 AAF42870;AAH15796;BAA91162;BAF83439;CAB66684;CAG38579;CAL37754;CAL37964;EAW82437;EAW82438;EAW82439;NP_001139197;NP_060286;Q9NX58 Hs.425427 1650854;1655561;1770287;5022670 D4S1359;G34214;LYAR;SHGC-67674 FLJ20425;ZC2HC2;ZLYAR Ly1 antibody reactive homolog;OTTHUMP00000155128;cell growth-regulating nucleolar protein APPROVED protein-coding ENSG00000145220 26021 10064 VALIDATED 1602188 LYG1 lysozyme G-like 1 2 2 2 q11.2 94105373 94122311 - 99267133 99284071 - 99900701 99917639 - 6480464 15489334;12975309;12574869;12477932;11329013;21926972 129530 Q8N1E2 ABBA01073949;AC079447;AMYH01010804;AMYH01010805;AY358988;BC029126;BG194505;CH471127;NM_174898 AAH29126;AAQ89347;AAX93256;ACE86656;ACE87338;ADZ15802;EAX01872;NP_777558;Q8N1E2 Hs.164589 1680751 RH92412 SALW1939 OTTHUMP00000161219;OTTHUMP00000203483;lysozyme g-like protein 1 protein-coding ENSG00000144214 27014 14043 VALIDATED 1349683 LYPD1 LY6/PLAUR domain containing 1 2 2 2 q21.2 127117594 127144318 - 133118807 133145540 - 133402337 133429070 - 737633;1580863;6480464 12477932 16413018;16368877;16344560;16303743;15489334;14702039;12975309;16712791;20379614 116372 F8WD77;Q8N2G4 ABBA01028212;ABBA01028213;AC010974;AC079773;AI150931;AK075487;AK094501;AK123029;AK130005;AK309668;AK309849;AMYH01011109;AY358628;BC011449;BC017318;BC040046;BE386060;BG057775;BY800190;CB110132;CH471058;CS051317;DA687169;DA776269;NM_001077427;NM_144586 AAH17318;AAH40046;AAQ88991;AAX93107;AAX93206;BAC04368;BAC11647;BAC85273;BAC85518;CAI72153;EAX11673;EAX11674;EAX11675;EAX11676;EAX11677;NP_001070895;NP_653187;Q8N2G4 Hs.432395 1671300;1690372;1727303;2107373 G63058;MGC29643__7700;RH44409;RH80444 FLJ41033;LYPDC1;MGC29643;PHTS OTTHUMP00000204190;OTTHUMP00000204191;ly6/PLAUR domain-containing protein 1;putative HeLa tumor suppressor protein-coding 28431 14333 610450 VALIDATED 1343769 LYL1 lymphoblastic leukemia derived sequence 1 This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010] 19 19 p13.2 13070847 13074681 - 13209842 13213974 - 1580863;6480464;7240710 9242638;2752424;18160048;16094422;15489334;15057824;12477932;10023675;8649774;8628307;8432525;7957052;2268576;2067848;1763056;19176012;19608273;19671288;20418284;16344560;20844761;20603019;19497860 4066 K7ER61;P12980 ABBA01029755;AC005546;AC007787;AI554151;AMYH01009501;BC002796;BI908195;CH471106;DB036722;M22637;M22638;NG_027756;NM_005583 AAA88084;AAA88085;AAA92488;AAC33149;AAH02796;EAW84344;NP_005574;P12980 Hs.46446;Hs.728534 bHLHa18 class A basic helix-loop-helix protein 18;lymphoblastic leukemia-derived sequence 1;protein lyl-1 APPROVED protein-coding ENSG00000104903 6734 01046 151440 REVIEWED 1604308 LYNX1 Ly6/neurotoxin 1 This gene encodes a member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell surface by a glycosylphosphatidylinositol anchor and have a unique structure showing conserved 8-10 cysteine residues with a characteristic spacing pattern. Functional analysis indicates that this protein is not a ligand or neurotransmitter but has the capacity to enhance nicotinic acetylcholine receptor function in the presence of acetylcholine. This gene may also play a role in the pathogenesis of psoriasis vulgaris. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 8 8 q24.3 143842758 143856642 - 143845756 143859640 - 6480464 18559515;17643396;17089039;16575903;12975309;12573258;12477932;10402197;8889548;19639180;20379614;21252236;23585571 66004 E5RIY6;E5RJW2;G3V0Z9;H0YB12;Q9BZG9 AB081838;ABBA01005288;AC083841;AF321824;AI494395;AK123335;AK126845;AL353948;AMYH01019093;AW449754;AY358417;AY587277;BC014560;BC047923;BI603715;BM172253;BQ685632;BU683767;CH471162;DB501423;NM_023946;NM_177457;NM_177458;NM_177476;NM_177477 AAK01642;AAQ88783;AAT00512;BAC56859;EAW82299;EAW82301;EAW82302;EAW82303;EAW82304;EAW82306;NP_076435;NP_803252;NP_803253;NP_803429;NP_803430;Q9BZG9 Hs.158665;Hs.604828 1683501;1761597;2161414;2163307;2217576;5113789 LYNX1_2866;RH16413;RH79201;RH80085;SHGC-145591;WI-19719 MGC40364;SLURP2 Ly-6 neurotoxin-like protein 1;OTTHUMP00000227233;OTTHUMP00000227234;OTTHUMP00000227235;OTTHUMP00000227292;OTTHUMP00000227293;OTTHUMP00000227295;SLURP-2;ly-6/neurotoxin-like protein 1;secreted Ly-6/uPAR domain-containing protein 2;secreted Ly-6/uPAR-related protein 2;secreted Ly6/uPAR related protein 2 APPROVED protein-coding ENSG00000180155 29604 16201 606110 REVIEWED 1603530 LYG2 lysozyme G-like 2 The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008] 2 2 2 q11.2 94063301 94076202 - 99225141 99238002 - 99858709 99871570 - 6480464 15815621;15489334;12574869;12477932;8889548;21093056;21926972 254773 C9J4J0;C9JBA4;Q496G2;Q86SG7 ABBA01073949;ABBA01073950;AC079447;AF323919;AMYH01010804;AY026238;BC100882;BC100883;BC100884;BC100885;BQ184834;BQ187749;CH471127;NM_175735 AAI00883;AAI00884;AAI00885;AAI00886;AAK16605;AAO32945;AAX93255;EAX01873;EAX01874;NP_783862;Q86SG7 Hs.436468 LYGH;MGC119046;MGC119047;MGC119049 OTTHUMP00000161223;OTTHUMP00000203477;OTTHUMP00000203478;OTTHUMP00000203479;lysozyme g-like protein 2;lysozyme-like APPROVED protein-coding ENSG00000185674 29615 14331 REVIEWED 1352251 LYPD2 LY6/PLAUR domain containing 2 8 8 8 q24.3 140142653 140144977 - 143828630 143830954 - 143831628 143833952 - 6480464 15489334;12975309;12477932;21697133 137797 F1T0L0;Q6UXB3 AB593150;ABBA01005288;AC083841;AK290331;AMYH01019092;AY358432;BC119019;BC119812;CH471162;NM_205545 AAI19020;AAI19813;AAQ88798;BAF83020;BAJ84084;EAW82307;NP_991108;Q6UXB3 Hs.441280 LYPDC2;MGC148106;UNQ430 OTTHUMP00000227217;RGTR430;ly6/PLAUR domain-containing protein 2 protein-coding ENSG00000197353 25215 14334 PROVISIONAL 732668 LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 8 8 q13 56954926 57085685 + 56792386 56925006 + 1580863;2303708;1581410;2303711;6480464;6484113;6907045 17845203;16529858;17039281 7859737;8753773;9020138;10748115;3561390;7650013;18029348;11313396;10858437;19492092;19369946;19258394;19234487;19086053;18817770;18802065;18768392;18579528;18577747;18457834;18391951;18363812;18272395;18235045;18174230;18086677;18070987;17701175;17692281;17233630;17230226;17192257;17081983;16791881;16687414;16597828;16568084;16467205;16320343;16249387;15795233;15744341;15665117;15592455;15546919;15501776;15489334;15262430;15190072;15173188;15166241;15144186;14969582;14667819;14662334;12882960;12846735;12642697;12588871;12586738;12538589;12509383;12496276;12495897;12477932;12468540;12393728;12181444;12149655;12096713;12095152;11971018;11943772;11877294;11826756;11825908;11823534;11782428;11744621;11739737;11602604;11598012;11594778;11536198;11526478;11524430;11517336;11514608;11443118;11389892;11388899;11358993;11311138;11301322;11226282;11162638;11131153;11104670;11071635;11046148;11042209;10945997;10945993;10942405;10933394;10872802;10790433;10749872;10733577;10633085;10586033;10574931;10564259;10488096;10469124;10432313;10415030;10403844;10362357;10339479;10327049;10318860;10206997;10066823;10026222;9973406;9892651;9892356;9837776;9820500;9748231;9712716;9687533;9633884;9581808;9573010;9531288;9446655;9427690;9341198;9202419;9195899;9171348;9104825;9045636;8943850;8943427;8910336;8885868;8806683;8756631;8705993;8692915;8657103;8647200;8630736;8629002;8621719;8621063;8612628;8395016;8197119;8125304;8114715;8084605;8058772;8051175;7895172;7831290;7682714;7682059;7636265;7612892;7589101;7575560;7568175;7545683;7528770;7516469;7515933;2505253;2247464;2065070;1998697;1722201;1720539;1715582;1689310;1602151;1557373;1544885;1510669;1508184;16849330;16621960;16454711;15638726;15078178;12734410;10642173;10544125;7516335;16640565;12138090;9169439;10981967;9268059;9590210;10748054;10228003;12244174;9169421;12750561;17353931;14993658;10571082;22261722;22364282;7782294;15707590;21749309;21822214;22745667;16344560;22845063;10428862;10891478;11306681;12456510;12810716;16118313;16316995;16374509;16799092;17164290;17254966;19290526;19340007;19356729;19590497;19619611;19641380;19710703;19807924;19893451;19965664;20056178;20079716;20189992;20215510;20379614;9028946;9295288;9819391;20561033;20605918;21106848;20693279;20962850;20679348;15784897;20546612;21345943;22731636;17910947;19930468;21628423;23378338;21951684;11435302;14726379;15489917;20534535;21918188;21730355;21952639;21978158;21513978;12594225;21139048;21890473;21906983;22393415;19322201;9160881;22246800;11157475;21309750;7721825;12202484;12244095;22895079;23396948;23398456;23503679;22430206;21963094;22939624;23223229;18453587;20946164;23583449;22490227 4067 A8K379;E5RJ37;P07948;Q6NUK7 ABBA01041754;ABBA01041755;AC018607;AC046176;AK130135;AK290494;AK298677;AMYH01018734;BC059394;BC068551;BC075001;BC075002;BC126456;BC126458;BG059526;BU954348;CB990993;CH471068;CN480554;DA948647;M16038;M79321;NG_029593;NM_001111097;NM_002350 AAA59540;AAB50019;AAH59394;AAH68551;AAH75001;AAH75002;AAI26457;AAI26459;BAF83183;BAG60841;EAW86764;EAW86765;EAW86766;EAW86767;EAW86768;NP_001104567;NP_002341;P07948 Hs.491767;Hs.545418 1341917;1744091;1769518;1775209;1796264;2139260;2163035;2164746;2165732 D8S1516;D8S1828;D8S1930;GDB:386774;LYN_1415;RH18289;RH48206;RH69081;SHGC-58186 FLJ26625;JTK8;p53Lyn;p56Lyn OTTHUMP00000226393;OTTHUMP00000226394;Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog;lck/Yes-related novel protein tyrosine kinase;lyn protein non-receptor kinase;tyrosine-protein kinase Lyn APPROVED protein-coding 6735 01301 165120 REVIEWED 6771298 LYPD8 LY6/PLAUR domain containing 8 1 q44 248902716 248903171 - 12975309;16344560 646627 Q6UX82 ABBA01023059;ABBA01023060;AMYH01001950;AY358469;BC033943;CA433021;CH471257;CR589904;DA922659;FP476111;NM_001085474 AAQ88833;EAW57531;NP_001078943;Q6UX82 Hs.146268;Hs.632511 ly6/PLAUR domain-containing protein 8;phospholipase inhibitor;uncharacterized protein UNQ511/PRO1026 protein-coding ENSG00000266949 44208 VALIDATED 6484020 LYPLA1P1 lysophospholipase I pseudogene 1 7 q31.32 122870118 122870808 - 100129401 AACC02000001;ABBA01057737;AC073054;AMYH01017902;CH236947;NG_022546 pseudo 44005 INFERRED 6484055 LYPLA1P2 lysophospholipase I pseudogene 2 4 q25 111866268 111866985 - 391686 ABBA01063800;AC004062;AMYH01014463;NG_022025 pseudo 44006 INFERRED 6484050 LYPLA1P3 lysophospholipase I pseudogene 3 6 q13 71874683 71877163 + 157713 ABBA01040278;AL365267;AMYH01016417;NG_001063 1680954 RH80504 pseudo 44007 INFERRED 1602183 LYPD4 LY6/PLAUR domain containing 4 19 19 19 q13.2 39140840 39148195 - 47032990 47040348 - 42341150 42348508 - 6480464 15489334;12975309;12477932;16751776 147719 A8K8E0;Q6UWN0 ABBA01040814;AC010616;AC020956;AK292305;AMYH01009820;AY358726;AY771680;BC034629;CH471126;NM_173506 AAH34629;AAQ89088;AAX08121;BAF84994;EAW57066;EAW57067;NP_775777;Q6UWN0 Hs.98660 1338317;1759397;5016725 D19S423;RH98464;SHGC-151187 MGC42718;SMR ly6/PLAUR domain-containing protein 4;sperm membrane receptor protein-coding ENSG00000183103 28659 14626 VALIDATED 1601894 LYPLA2P1 lysophospholipase II pseudogene 1 6 6 6 p21.32 34886867 34888505 - 33440479 33442117 - 33332501 33334139 - 6480464 19851445 653639 ABBA01038144;AL050332;AL662799;AL662827;AMYH01016245;BX248088;CR759793;CT009514;NG_027926 2184254 G23097 APT;LYPLA2L;dJ570F3.6 pseudo 21069 VALIDATED 70834 LYPD3 LY6/PLAUR domain containing 3 19 19 q13.31 48656786 48661671 - 43964946 43969831 - 6480464 15012588;18979631;17912244;17849475;17706320;16344560;16303743;15489334;15342556;15057824;12975309;12592373;12477932;11245483;11179665;12477722;20825414;17207965;20360068;22431918;22404718 27076 B2RBR3;O95274 ABBA01040861;AC018758;AF082889;AJ223603;AK075464;AK290905;AK314773;AL832153;AMYH01009839;AY359006;BC039167;BC041061;BP367221;CH471126;DA837818;NM_014400 AAD13751;AAG09062;AAH39167;AAQ89365;ADQ31960;BAF83594;BAG37310;BAG52146;CAA11469;CAI46120;EAW57190;NP_055215;O95274 Hs.631594 2115065;2116382;2133310 STS-D29356;STS-T69460;STS-W72299 C4.4A 2310061G07Rik;GPI-anchored metastasis-associated protein C4.4A homolog;GPI-anchored metastasis-associated protein homolog;MIG-C4;ly6/PLAUR domain-containing protein 3;matrigel-induced gene C4 protein protein-coding ENSG00000124466 24880 10783 609484 VALIDATED 1602653 LYPD6B LY6/PLAUR domain containing 6B 2 2 2 q23.2 143508885 143685705 + 149603227 149780018 + 149894981 150071772 + 6480464 12477932;18360792;20379614;20164180;23453885 130576 F8WB42;F8WCH4;F8WEI1;H7BXI7;Q8NI32 ABBA01004741;ABBA01004742;AC009230;AC073271;AF435957;AMYH01011161;BC018203;BC040176;CH471058;NM_177964 AAH18203;AAH40176;AAM20908;AAY14974;AAY24304;EAX11541;EAX11542;EAX11543;NP_808879;Q8NI32 Hs.357567 1688048;1690700;1723731;1757453;2176491 D2S1812;RH118755;RH70008;RH94091;SHGC-144830 CT116;LYPD7 OTTHUMP00000204361;OTTHUMP00000204362;OTTHUMP00000204363;cancer/testis antigen 116;ly6/PLAUR domain-containing protein 6B protein-coding ENSG00000150556 27018 14045 PROVISIONAL 1604488 LYPD5 LY6/PLAUR domain containing 5 19 19 19 q13.31 41103571 41128348 - 48992233 49016626 - 44300079 44324808 - 6480464 16344560;15489334;15340161;14702039;12975309;12477932;19913121;20628086 284348 M0QYY3;M0R1J4;Q6UWN5 ABBA01040869;ABBA01040870;AC011508;AC115522;AK055031;AK301693;AMYH01009840;AY358719;BC044237;BC057816;CF529795;CH471126;DA286806;DC364960;NM_001031749;NM_182573 AAH57816;AAQ89081;BAB70840;BAG63165;EAW57232;NP_001026919;NP_872379;Q6UWN5 Hs.44289 2147919;5106786 D19S712;STS-W81532 FLJ30469;PRO4356 ly6/PLAUR domain-containing protein 5;metastasis-associated protein protein-coding ENSG00000159871 26397 08084 VALIDATED 1605579 LYPD6 LY6/PLAUR domain containing 6 Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010] 2 2 2 q23.2 143801045 143944084 + 149895359 150038384 + 150186499 150330662 + 6480464 15489334;15340161;14702039;12975309;12477932;19653121;20379614;16344560 130574 C9IYE7;Q86Y78 ABBA01004742;AC007394;AK055699;AK124733;AK309248;AL831852;AMYH01011161;AY358623;BC032836;BC047013;BX105614;CH471058;DA246384;NM_001195685;NM_194317;R45082 AAH32836;AAH47013;AAQ88986;AAY14698;BAG54082;CAH56278;EAX11538;EAX11539;EAX11540;NP_001182614;NP_919298;Q86Y78 Hs.21929 1674968;1722457;1854095;2116575;2121034;2122396 A006O33;Cda0td05;D2S1995;G60156;RH12313;SHGC-16727 MGC52057 OTTHUMP00000162676;OTTHUMP00000204367;ly6/PLAUR domain-containing protein 6 APPROVED protein-coding ENSG00000187123 28751 14676 613359 VALIDATED 1601746 LYRM1 LYR motif containing 1 16 16 16 p11.2 20221438 20246212 + 20819927 20843829 + 20911557 20936328 + 6480464 19284880;19022914;16344560;15489334;12477932;10493829;20877624;20826099;20938407;22820890 57149 H3BNA8;H3BNK2;O43325 ABBA01028288;AC002394;AK308690;AK310055;AK311415;AK311881;AL359616;AMYH01007345;BC017039;BI547471;CD237780;CH471228;CX163936;DB054440;NM_001128301;NM_001128302;NM_020424 AAC05810;AAH17039;ADZ15700;BAG34822;EAW66843;EAW66844;EAW66845;EAW66846;EAW66847;EAW66848;EAW66849;NP_001121773;NP_001121774;NP_065157;O43325 Hs.185489 2154143;2154536;2164138 1042;HUMHM02C01;RH66147 A211C6.1 LYR motif-containing protein 1;OTTHUMP00000162292 protein-coding ENSG00000102897 25074 14254 614709 VALIDATED 733893 LYPLA2 lysophospholipase II Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 22447208 22451593 + 23990233 23994616 + 24117646 24122029 + 1580863;6480464;6907045 16806233;16710414;15489334;12477932;10395961;16169070;21152083;21832049;21890473;21906983;19738201;22623428;23396970 11313 E7EPS4;O95372;Q5QPN5;Q5QPN9;Q5QPQ0;Q5QPQ1;Q5QPQ2;Q5QPQ3 ABBA01059886;AF090423;AF098668;AK024724;AL031295;AMYH01000363;BC017034;BC017193;CH471134;NM_007260 AAC72844;AAH17034;AAH17193;AAP97210;ABM87823;ABW03732;EAW95077;EAW95078;EAW95079;EAW95080;EAW95081;EAW95082;NP_009191;O95372 Hs.533479 1666456;2184254;5124771 G23097;RH8138;SHGC-74383 APT-2;DJ886K2.4 LPL-II;OTTHUMP00000002999;OTTHUMP00000003001;OTTHUMP00000003002;OTTHUMP00000037932;OTTHUMP00000037933;OTTHUMP00000037934;acyl-protein thioesterase 2;lysoPLA II APPROVED protein-coding ENSG00000011009 6738 07127 REVIEWED 735384 LYPLA1 lysophospholipase I This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013] 8 8 q11.23 55121491 55177130 - 54958938 55014577 - 1580863;6480464;6907045 10064899;19465924;15489334;12477932;11080636;11042152;10760470;10395961;9110174;8619474;1531641;19439193;20418879;20685872;19322201;21139048;21890473;21906983;19738201;22623428;23000965;23396970;16344560;7566098 10434 E5RFT6;E5RGR0;E5RI35;E5RJ48;O75608;Q6IAQ1 AA307642;AA827237;ABBA01041735;ABBA01041736;AC100821;AF035293;AF052112;AF077198;AF077199;AF081281;AF291053;AK289400;AK298206;AK307277;AK313739;AMYH01018723;AMYH01018724;BC008652;BC010397;CH471068;CR457103;DA817192;DA881616;DA883059;NM_001279356;NM_001279357;NM_001279358;NM_001279359;NM_001279360;NM_006330 AAB88180;AAC31610;AAD26993;AAD26994;AAG10063;AAH08652;AAH10397;ABM82453;ABM85643;BAF82089;BAG36480;BAG60476;CAG33384;EAW86742;EAW86743;EAW86744;EAW86745;EAW86746;NP_001266285;NP_001266286;NP_001266287;NP_001266288;NP_001266289;NP_006321;O75608 Hs.744046 1680954;2107303 LYPLA1__7347;RH80504 APT-1;APT1;LPL-I;LPL1;LYSOPLA;hAPT1 LPL-I;OTTHUMP00000226435;OTTHUMP00000226436;OTTHUMP00000226437;OTTHUMP00000226439;OTTHUMP00000226442;acyl-protein thioesterase 1;acyl-protein thioesterase-1;lysoPLA I;lysophospholipase 1;lysophospholipid-specific lysophospholipase APPROVED protein-coding ENSG00000120992 6737 07063 605599 REVIEWED 1322525 LYPLAL1 lysophospholipase-like 1 1 1 1 q41 192564906 192603940 + 217413844 217451783 + 219347192 219386207 + 6480464 12706107;16710414;16344560;15489334;12477932;20703240;19557161;21953277;20724581;20935629;21674055;22179955;22479202;21139048;21890473;21906983;22052940;22589738;22581228;20881960;22797925 127018 Q5VWZ2 ABBA01048098;AK123628;AK129913;AK291542;AK309689;AL360093;AMYH01001736;AY341430;BC016711;BF115063;CH471100;CS185550;DA822882;NM_138794 AAH16711;AAQ17077;BAF84231;BAG53925;CAJ42731;EAW93319;EAW93320;EAW93321;EAW93322;EAW93323;NP_620149;Q5VWZ2 Hs.657617 1644186;1698292;1781488;2123955 RH102683;SHGC-132850;SHGC-53443;SHGC-76379 FLJ99730;KIAA1238 OTTHUMP00000035229;OTTHUMP00000035230;lysophospholipase-like protein 1 protein-coding ENSG00000143353 20440 14335 VALIDATED 1603386 LYRM2 LYR motif containing 2 6 6 6 q15 90760915 90767451 - 90398664 90405195 - 90341943 90348474 - 6480464 12477932;15489334;15342556;14702039;7829101;16344560;17207965;21890473 57226 E5RG38;E5RJK7;G3V136;Q9NU23 ABBA01040533;AK024783;AK094994;AK311151;AK311180;AK311275;AK311948;AL096678;AL122090;AMYH01016502;AV710669;BC009782;BC104668;BI492982;BP280644;CH471051;DA160441;NM_020466;NR_028493;NR_028494;NR_028495 AAH09782;AAI04669;ACE86424;ACE87099;ADQ33179;BAG34889;EAW48547;EAW48548;EAW48549;NP_065199;Q9NU23 Hs.177275 1650910;1660803;1673271;1682395;1685934;1694544;1772284;5022651;5037552;5123909 D11S2921;D6S1132E;D8S2279;G31052;G43165;RH46755;RH67824;SGC30401;SHGC-36707;STS-AA025624 DJ122O8.2;FLJ18193;FLJ18317;FLJ21130;MGC104253 LYR motif-containing protein 2;OTTHUMP00000224998;OTTHUMP00000224999 protein-coding ENSG00000083099 25229 13146 VALIDATED 1606960 LYRM5 LYR motif containing 5 12 12 12 p12.1 30495105 30504913 + 25239417 25249216 + 25348150 25357949 + 6480464 15489334;14702039;12477932;20877624;17207965 144363 G3V332;G3V427;G3V4R2;G3V521;Q6IPR1 ABBA01068017;AC092794;AK057730;AK095164;AMYH01004339;BC071769;BC100276;BG771497;CH471094;NM_001001660 AAH71769;AAI00277;ADQ32000;EAW96510;NP_001001660;Q6IPR1 Hs.209151 1679820;1796236;2099610;2128020 Bda12d09;KRAS2_909;SHGC-33831;stSG603220 LYR motif-containing protein 5;OTTHUMP00000245378;OTTHUMP00000245379;OTTHUMP00000245380;OTTHUMP00000245384;OTTHUMP00000245385 protein-coding ENSG00000205707 27052 14067 VALIDATED 1345825 LYRM4 LYR motif containing 4 6 6 6 p25.1 6335563 6487960 - 5053652 5206167 - 5108653 5261172 - 6480464 19422935;19174780;19068216;17331979;16341090;15489334;14574404;12477932;11342225;8889548;19913121;20628086;19454487;19760754;20877624;20886065;21072187;18029348;20972266;22277967;21998595;21890473;21968932;21988832 57128 C9J799;C9JRX8;C9JY28;F5H189;H7C4Q5;Q9HD34 AA764791;ABBA01022005;ABBA01022006;ABBA01022007;ABBA01022008;AF088060;AF170070;AF258559;AF285118;AK291158;AK309661;AL035653;AL121978;AL162381;AMYH01016048;AMYH01016049;AMYH01016050;BC009552;BC067762;BC105601;BI226933;BI753819;BI758258;BM984752;BX353584;BX446965;CH471087;CK819966;NM_001164840;NM_001164841;NM_020408 AAF25797;AAG01155;AAG23762;AAH09552;ACE86635;ACE87317;BAF83847;EAW55176;EAW55177;EAW55178;NP_001158312;NP_001158313;NP_065141;Q9HD34 Hs.387755 1644709;1694974;1753939;1775909;2138264;2138266;2173067;5014023;5118506 A005W03;AL035373;D11S3374;D13S1553;D6S1789;G20545;RH12460;SHGC-108146;SHGC-57597 C6orf149;CGI-203;ISD11 LYR motif-containing protein 4;OTTHUMP00000214151;OTTHUMP00000214159;homolog of yeast Isd11;mitochondrial matrix Nfs1 interacting protein protein-coding ENSG00000214113 21365 12855 613311 VALIDATED 3210028 LYRM9 LYR motif containing 9 17 17 17 q11.2 23067202 23082270 - 23229467 23244536 - 26205340 26220409 - 12477932;14702039 201229 A8MSI8;D6RAR2;D6RFL2;J3QLB4 ABBA01015066;AC005697;AI804732;AK055808;AMYH01008275;AY251535;BC018092;CH471159;DB474433;DR155808;NM_001076680 A8MSI8;AAP20058;EAW51051;NP_001070148 Hs.744052 1647806;1689815 D17S2150;RH11796 C17orf108;HSD24 LYR motif-containing protein 9;OTTHUMP00000222810;UPF0631 protein C17orf108;hypothetical protein LOC201229 APPROVED protein-coding 27314 VALIDATED 6481097 LYST-AS1 LYST antisense RNA 1 100874266 AL133286 LYST-IT2 APPROVED miscrna 41320 6481096 LYST-IT1 LYST intronic transcript 1 (non-protein coding) 100874265 AL121997 miscrna 41319 1605838 LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 15 15 15 q21.2 28908680 28937069 - 49802553 49817608 - 52015261 52043650 - 6480464 15489334;15592455;12477932 256586 H0YK98;Q8IV50 ABBA01039080;AC026770;AK129759;AMYH01006647;AY125955;BC022075;BC033515;BI822634;BQ446302;CH471082;CR936638;NM_001143917;NM_153374 AAH22075;AAH33515;AAM94507;ABM83350;ABM86564;CAI56778;EAW77427;NP_001137389;NP_699205;Q8IV50 Hs.603629 DKFZp686I2243;MGC35274 OTTHUMP00000162616;lysM and putative peptidoglycan-binding domain-containing protein 2 protein-coding ENSG00000140280 28571 17531 VALIDATED 1603473 LYSMD1 LysM, putative peptidoglycan-binding, domain containing 1 1 1 1 q21.3 124247515 124253715 - 149398848 149404960 - 151132224 151138424 - 6480464 16710414;16344560;15489334;12477932;17207965 388695 Q96S90 ABBA01049379;AK298706;AK298814;AL122088;AL592424;AMYH01001386;AY037156;BC031649;BX647911;CH471121;DA176882;NM_001136543;NM_212551 AAH31649;AAK67635;ADQ31937;BAG60863;BAG60947;CAH10574;CAH10716;EAW53467;NP_001130015;NP_997716;Q96S90 Hs.591482 1687083;2106589;2113678 AB062973;RH79577;SB145__5549 MGC35223;RP11-68I18.5;SB145 OTTHUMP00000014153;OTTHUMP00000235064;lysM and putative peptidoglycan-binding domain-containing protein 1 protein-coding ENSG00000163155 32070 18017 VALIDATED 1602082 LYRM7 LYR motif containing 7 5 5 5 q23.3 126637021 126671498 + 130534540 130569018 + 130506641 130541119 + 6480464 19240061;15489334;14702039;12477932;20877624;21832049;21890473;23168492 90624 D6R994;D6RBV5;Q5U5X0 ABBA01068832;AC004650;AC005179;AK000803;AK056991;AMYH01015609;BC022429;BC037930;BC047079;BI601105;CH471062;NM_181705 AAH37930;AAH47079;EAW62375;NP_859056;Q5U5X0 Hs.115467 1331601;1772679;1850447;2142288;2182572;5015619;5015961;5016478;5016596;5020740;5020988;5022322;5022578;5022651;5109281 A008S03;D11S2560;D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D22S958;D5S666;GDB:1318710;GDB:434012;GDB:631802;L17809;RH78570;STS-N53458 C5orf31;FLJ20796;MGC24679;MZM1L LYR motif containing 7;LYR motif-containing protein 7;Lyrm7 homolog;OTTHUMP00000159243;OTTHUMP00000223170;complex III assembly factor LYRM7 APPROVED protein-coding ENSG00000186687 28072 14276 VALIDATED 1606178 LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 5 5 5 q14.3 85713583 85727549 - 89847200 89861157 - 89811444 89825401 - 6480464 16381901;15489336;15489334;14702039;12477932;11230166;11076863 116068 A8K613;G5E9N8;Q7Z3D4 ABBA01062155;AC027323;AK023604;AK291478;AL137315;AL832721;AMYH01015478;BC058027;BC136740;BC136741;BX500166;BX537972;CH471084;CR933624;CS300697;NM_198273 AAH58027;AAI36741;AAI36742;AAI46688;BAF84167;CAB70692;CAD97936;CAI45934;CAK32361;CAL38090;CAL38656;EAW95984;NP_938014;Q7Z3D4 Hs.136235 DKFZp686F0735;FLJ13542 OTTHUMP00000222487;OTTHUMP00000222488;OTTHUMP00000222490;OTTHUMP00000222491;lysM and putative peptidoglycan-binding domain-containing protein 3 protein-coding ENSG00000176018 26969 VALIDATED 1604070 LYST lysosomal trafficking regulator This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013] 1 1 q42.1-q42.2 233890966 234096843 - 235824343 236030220 - 6480464;7240710 11984006;9606205;6154765;10648412;18043242;16710414;14759258;12753649;12477932;12446740;12125812;11857544;11102458;10737800;10482950;9215680;9215679;8896560;8751864;8751863;8717042;6445041;15896657;20463881;20301751;21488161;21139048;21890473;16344560;1672300;3013924;3322007;9145619;19620308 1130 F5H074;H7C4F5;Q99698 AA486745;ABBA01033142;ABBA01033143;ABBA01033144;ABBA01033145;AK307457;AK310790;AL121997;AL133286;AL390765;AMYH01001850;BC033098;BC144702;BF692337;BI031463;BX649113;CD702969;CH471098;DB265889;L77889;NG_007397;NM_000081;NR_102436;U67615;U70064;U72192;U84744 AAB39697;AAB41309;AAB41533;AAB51608;AAB87737;AAI44703;EAW70034;EAW70035;EAW70036;EAW70037;EAW70038;NP_000072;Q99698 Hs.532411 1298318;1654713;1656477;1680290;1692494;1692616;1706244;1730377;1850569;1857135;2107933;2159196;2179410;5017448;5094841;7183716;7184698 AAT243;AL009516;AL033898;AL034066;CHS1_8257;D1S235;D1S2483;D1S300E;LYST;RH11279;RH68211;SGC35175;SHGC-32758;SHGC-76548;SHGC-80663 CHS;CHS1 Chediak-Higashi syndrome 1;OTTHUMP00000038327;beige homolog;beige protein;lysosomal-trafficking regulator APPROVED protein-coding ENSG00000143669 1968 06060 214500;606897 REVIEWED 1350038 LYZL1 lysozyme-like 1 10 10 10 p12.1 29343639 29365823 + 29617996 29640164 + 29577990 29600158 + 737633;6480464 12477932 18519826;15489334;15342556;15164054;12975309;11329013;20379614;23362303 84569 H0YDZ2;Q6UWQ5 ABBA01034366;ABBA01034367;AI393331;AL158167;AMYH01002214;AY358694;BC021730;BF057063;BG209290;BP369317;CH471072;HC007138;NM_032517 AAH21730;AAQ89057;ADZ15709;CBH19374;EAW86025;NP_115906;Q6UWQ5 Hs.558572 1755145 SHGC-142069 KAAG648;LYC2;MGC33408;PRO1278;bA534G20.1 OTTHUMP00000019386;lysozyme-like protein 1 protein-coding ENSG00000120563 30502 14336 VALIDATED 1348547 LYZL4 lysozyme-like 4 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL4 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] 3 3 3 p22.1 42378992 42392482 - 42413579 42427069 - 42438575 42452065 - 737633;1580863;6480464 12477932 16014814;15489334;17207965;21107309 131375 Q96KX0 ABBA01024769;AC092048;AF326749;AMYH01013112;BC016747;CH471055;NM_144634 AAH16747;AAO32946;ADQ31748;EAW64648;NP_653235;Q96KX0 Hs.234895 1810009N24Rik;LYC4;MGC26768 OTTHUMP00000162604;OTTHUMP00000209346;lysozyme-4;lysozyme-like protein 4 APPROVED protein-coding ENSG00000157093 28387 14338 612750 PROVISIONAL 1606711 LYSMD4 LysM, putative peptidoglycan-binding, domain containing 4 15 15 15 q26.3 76686562 76692579 - 98085133 98091149 - 100267610 100273626 - 6480464 15489334;14702039;12477932;20379614;23377640 145748 B3KWE4;C9J1B9;Q5XG99 ABBA01020551;AC022692;AK056718;AK057570;AK124852;AK290296;AMYH01006967;BC041097;BC084545;BG420645;BX640928;CB989579;CH471101;NM_152449 AAH41097;AAH84545;BAB71528;BAF82985;BAG54106;CAE45966;EAX02253;EAX02254;EAX02255;EAX02256;NP_689662;Q5XG99 Hs.562568 1727385;1775419 D15S901;G63100 FLJ33008;MGC99501 OTTHUMP00000194788;OTTHUMP00000194789;lysM and putative peptidoglycan-binding domain-containing protein 4 protein-coding ENSG00000183060 26571 08153 VALIDATED 1342780 LYZL6 lysozyme-like 6 This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose biosynthesis. The encoded protein contains catalytic residues characteristic of C-type lysozymes and may play a role in male reproduction. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] 17 17 17 q11.2 31171081 31176066 - 31285638 31290623 - 34261522 34270703 - 737633;1580863;6480464 12477932 16014814;15489334;12975309;10213461;11329013;17207965 57151 K7ENZ7;O75951 ABBA01011242;AC004675;AF088219;AMYH01008361;AY359018;AY742214;BC054481;BE550275;BG195727;CH471147;DB462957;HC007140;HC044567;NM_001199951;NM_020426 AAC63332;AAH54481;AAQ89377;AAU93343;ADQ32150;CBH19375;CBH30613;EAW80115;NP_001186880;NP_065159;O75951 Hs.97477 1675523 RH92094 1700023H08Rik;LYC1;PRO1485;TKAL754;UNQ754 OTTHUMP00000163949;OTTHUMP00000163950;lysozyme homolog;lysozyme-like protein 6 APPROVED protein-coding ENSG00000161572 29614 14339 612751 REVIEWED 1322012 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008] 11 11 p15 10535989 10546941 - 10579413 10590365 - 6480464 22241180;10037799;19291537;19033446;18689706;18564921;18386053;18342921;18181096;18090227;18078989;17884820;17087938;16569201;16424896;16344560;16335952;16303743;15489334;12975309;12912978;12554094;12477932;12091407;11719431;11689016;19742347;19908110;20011036;20191305;17144490;21291635;20863269;21912471;21660043;21500548;22673514;23264596 10894 B2R672;E7EPC7;F2Z296;Q9Y5Y7 ABBA01061157;AC009532;AF118108;AF127670;AK075443;AK300885;AK312462;AMYH01003390;AY358925;BC026231;CA449932;CH471064;CS051263;DA924658;NM_006691 AAD42764;AAD49220;AAH26231;AAQ89284;ABM82966;ABM86158;BAG35369;BAG52138;BAG62527;CAI72127;EAW68565;NP_006682;Q9Y5Y7 Hs.655332 1658332;1850676 D11S4637;RH12873 CRSBP-1;HAR;LYVE-1;XLKD1 OTTHUMP00000230796;OTTHUMP00000230798;cell surface retention sequence binding protein-1;cell surface retention sequence-binding protein 1;extracellular link domain containing 1;extracellular link domain-containing 1;extracellular link domain-containing protein 1;hyaluronic acid receptor;lymphatic vessel endothelial hyaluronic acid receptor 1 APPROVED protein-coding 14687 05753 605702 REVIEWED 1343889 LYZL2 lysozyme-like 2 Lysozymes (see LYZ; MIM 153450), especially C-type lysozymes, are well-recognized bacteriolytic factors widely distributed in the animal kingdom and play a mainly protective role in host defense. LYZL2 is a member of a family of lysozyme-like genes (Zhang et al., 2005 [PubMed 16014814]).[supplied by OMIM, Apr 2009] 10 10 10 p11.23 30666222 30684162 - 30940714 30958653 - 30900708 30918647 - 1580863;6480464 18984674;16014814;15489334;15164054;12477932;17207965;23064961 119180 Q7Z4W2 ABBA01034339;ABBA01034340;ABBA01034341;ABBA01034342;AF139543;AI637906;AL451107;AMYH01002218;BC066294;CH471072;NM_183058 AAH66294;AAP97272;ADQ32989;EAW86003;NP_898881;Q7Z4W2 Hs.522610 1755145 SHGC-142069 OTTHUMP00000019400;lysozyme 2;lysozyme-2;lysozyme-like protein 2 APPROVED protein-coding ENSG00000151033 29613 14337 612748 VALIDATED 6481267 LZTS1-AS1 LZTS1 antisense RNA 1 8 20133284 20147969 + 100874051 ABBA01021548;AC023403;AC025853;AMYH01018560;BC038538;NR_047509 Hs.385799 APPROVED miscrna ENSG00000253733 43630 PREDICTED 735254 LYZ lysozyme This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the anti-microbial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. Missense mutations in LYZ have been identified in heritable renal amyloidosis. [provided by RefSeq, Jul 2008] 12 12 q15 68028431 68034280 + 69742134 69748013 + 1599840;1599842;6480464;7240710 8464497;12675840 17353931;21486364;2829884;12477932;12183536;11986950;11946554;11946553;11927576;11887182;11849445;10561612;10558865;10534505;9883972;9757091;9745729;9659355;9359845;8765309;8566845;8503881;7334520;6876162;5284421;5168859;3413092;2971592;2546758;2207098;2061330;1794972;366724;19435495;19179970;18434581;18391951;18344136;18029788;17524359;17407782;17360367;17054380;16799949;16441658;16329101;16126226;16023673;15745733;15713462;15489334;15155566;14976184;12709420;12564923;19615732;20167661;20452482;2467766;19563039;21145461;21319273;20673868;21574221;21460390;12401807;21139048;21965601;22118674;22096116;23264227;23455922;19380743;22952844;3015198;23155290 4069 B2R4C5;F8VV32;P61626 ABBA01026542;AC020656;AK130127;AK130149;AK311779;AMYH01004565;BC004147;CH471054;FJ795023;J03801;M19045;M21119;NG_008195;NM_000239;U25677;X14008 AAA36188;AAA59535;AAA59536;AAC63078;AAH04147;ABM83197;ABM86398;ACO37637;BAG34722;CAA32175;EAW97220;EAW97221;EAW97222;NP_000230;P61626 Hs.524579 1720175;1720177;1721939;1744023;1771857;2179561;5014051;5037552;5106053 D12S1417;D8S2278;D8S2279;G59852;GDB:384857;LYZ;RH123998;RH123999;RH45271 LZM;lysozyme 1,4-beta-N-acetylmuramidase C;OTTHUMP00000240861;OTTHUMP00000240877;lysozyme;lysozyme C;renal amyloidosis APPROVED protein-coding ENSG00000090382 6740 01085 105200;153450 REVIEWED 1350209 M195 membrane external protein 195kDa 4079 6747 1319494 LZIC leucine zipper and CTNNBIP1 domain containing 1 1 1 p36.22 9100817 9113859 - 9912363 9925413 - 9989776 10002826 - 1580863;2314410;6480464 19444910 16710414;15489334;12477932;11712074;20098747;17207965;19913121;20628086;21139048 84328 B4E2N0;K7ES95;Q8WZA0 AB060688;ABBA01035575;ABBA01035576;AK304348;AK312550;AL357140;AMYH01000242;BC007240;BC063443;CH471130;NM_032368 AAH07240;AAH63443;ADQ32527;BAB72100;BAG35447;BAG65192;EAW71633;EAW71634;NP_115744;Q8WZA0 Hs.327252 5491411 MARC_10271-10272:998920602:1 MGC15436 OTTHUMP00000001733;OTTHUMP00000001734;leucine zipper and CTNNBIP1 domain-containing protein;leucine zipper and ICAT homologous domain-containing protein;leucine zipper domain and ICAT homologous domain containing;protein LZIC protein-coding ENSG00000162441 17497 14340 610458 PROVISIONAL 736900 LZTS1 leucine zipper, putative tumor suppressor 1 This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009] 8 8 p22 20147956 20157083 - 20103676 20112803 - 1600104;1580863;6480464;7240710 10097140 17349584;18029348;19339270;18559591;15489334;12851677;12477932;12377406;11504921;11464283;18686028;19885841;20038947;20083228;20508983;21419475;23064961;23259602 11178 Q9Y250 ABBA01021548;AC025853;AF123652;AF123653;AF123654;AF123655;AF123656;AF123657;AF123658;AF123659;AMYH01018559;AMYH01018560;BC075006;BC075007;CH471080;HI573950;NG_015834;NM_021020 AAD23833;AAD23834;AAD23835;AAD23836;AAD23837;AAD23838;AAD23839;AAD23840;AAH75006;AAH75007;ABZ92469;CBX47464;EAW63752;EAW63753;EAW63754;EAW63755;EAW63756;NP_066300;Q9Y250 Hs.521432 1656927;1699074;1722199;2110495;2154022;2174061 D8S2124;G60003;LZTS1_9234;RH103113;WI-20580;WIAF-1517 F37;FEZ1 F37/Esophageal cancer-related gene-coding leucine-zipper motif;OTTHUMP00000122524;OTTHUMP00000224720;leucine zipper putative tumor suppressor 1;psd-zip70 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000061337 13861 05945 133239;606551 REVIEWED 1315352 LZTFL1 leucine zipper transcription factor-like 1 This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013] 3 3 3 p21.3 45803051 45821229 - 45840450 45858625 - 45865446 45883621 - 6480464 14702039;12477932;11352561;20233871;20237496;15146197;16344560;22863883;22072986;21139048;19322201;22510444 54585 B3KSI9;B4E0K7;C9J0R9;F2Z2E6;F5GWL8;F8WB22;H7C488;Q9NQ48 ABBA01024721;AC098476;AC099782;AJ289880;AJ297351;AK024323;AK027165;AK093705;AK129805;AK303416;AMYH01013130;BC025988;BC042483;BX112707;BX640604;CH471055;CN429018;DA408809;DC410047;HY159348;NM_001276378;NM_001276379;NM_020347;NR_075080 AAH25988;AAH42483;ABW03334;BAG52751;BAG64469;CAB95836;CAB96873;CAE45710;EAW64749;EAW64750;NP_001263307;NP_001263308;NP_065080;Q9NQ48 Hs.174746;Hs.30824 1853931;2162409;2187493 SHGC-76871;SHGC-76894;WI-19320 BBS17;FLJ36386 OTTHUMP00000164656;OTTHUMP00000210185;leucine zipper transcription factor-like protein 1 protein-coding ENSG00000163818 6741 07586 606568 REVIEWED 1350753 MAA microphthalmia or anophthalmia and associated anomalies 7240710 4080 6755 737584 LZTS3 leucine zipper, putative tumor suppressor family member 3 20 20 20 p13 3205231 3211165 - 3091273 3097207 - 3143273 3149207 - 6480464 16522626;12477932;11780052;9628581;21840719;22318606 9762 O60299 AB011124;ABBA01053812;ABBA01053813;AL121891;AMYH01011673;BC038860;CH471133;NM_014731 AAH38860;ABM86581;BAA25478;EAX10545;EAX10546;EAX10547;NP_055546;O60299 Hs.90232 2132449;2139071;2139073 A005R07;G20430;WI-13669 KIAA0552;PROSAPIP1;RP5-1187M17.10 OTTHUMP00000030091;OTTHUMP00000160460;ProSAP/Shank-interacting protein 1;leucine zipper putative tumor suppressor 3;proSAP-interacting protein 1;proline rich synapse associated protein interacting protein 1 APPROVED protein-coding ENSG00000088899 11461 610484 VALIDATED 1319250 LZTR1 leucine-zipper-like transcription regulator 1 This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4827905 4844645 + 19666558 19683326 + 21336558 21353326 + 1580863;6480464 7633402;16356934;16344560;15761153;15489334;15461802;12477932;9110174;8619474;21145461;19851296;20198315;20211142;21139048;21906983;21963094 8216 B7Z3T9;F8WB67;F8WCB6;F8WEQ8;H7BZQ9;H7C0X1;H7C305;Q8N653 ABBA01015433;AC002470;AK296347;AK310747;AK313502;AL833698;AMYH01012539;BC026214;BQ019651;BQ182728;CH471176;CT841521;D38496;DA194822;NM_006767;U79243 AAH26214;ABW03361;ABW03703;BAA07508;BAG36282;BAH12325;CAJ86451;CAK54544;CAK54843;EAX02923;NP_006758;Q8N653 Hs.78788 1669454;1797138;2137120;5020713;5094770 AGAT120;LZTR1;MARC_4081-4082:991938342:1;RH69679;SHGC-31563 BTBD29;LZTR-1;MGC21205;TCFL2 OTTHUMP00000198635;leucine-zipper-like regulator-1;leucine-zipper-like transcriptional regulator 1 APPROVED protein-coding ENSG00000099949 6742 08992 600574 REVIEWED 1604532 M1AP meiosis 1 associated protein This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 2 2 2 p13.1 74616118 74706273 - 74638518 74728672 - 74785010 74875164 - 6480464 16881047;16189514;12477932;9927484;20549515;20379614;21906983;23269666 130951 C9JPR9;E9PGG8;F8WBR6;F8WEA5;Q8TC57 ABBA01075602;ABBA01075603;ABBA01075604;ABBA01075605;ABBA01075606;ABBA01075607;ABBA01075608;ABBA01075609;AC005033;AC007387;AK126374;AK130161;AK300188;AMYH01010454;BC014602;BC025997;CH471053;DR158220;NM_001281295;NM_001281296;NM_138804 AAH14602;AAH25997;AAX93225;BAC85295;BAG54315;BAH13233;EAW99609;EAW99610;EAW99611;NP_001268224;NP_001268225;NP_620159;Q8TC57 Hs.348645 1720137;1784252 RH123846;SHGC-171999 C2orf65;D6Mm5e;FLJ44410;SPATA37 OTTHUMP00000202714;OTTHUMP00000202715;hypothetical protein LOC130951;meiosis 1 arrest protein;meiosis 1 arresting protein;meiosis 1-arresting protein;meiosis 1-associated protein;spermatogenesis associated 37;spermatogenesis-associated protein 37;uncharacterized protein C2orf65 APPROVED protein-coding ENSG00000159374 25183 14047 REVIEWED 1343203 MAB21L1 mab-21-like 1 (C. elegans) This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008] 13 13 13 q13 17114816 17117722 - 34946340 34948788 - 36047926 36050832 - 1580863;6480464 12477932;8733127;16344560;12826745;11526470;10556287;9950369;21697133;21465527;22318606 4081 B2R805;F1T0A2;Q13394 AB073388;AB593021;AB593022;ABBA01010168;AK313185;AL390071;AMYH01005035;BC028170;CH471075;CR457420;DA611205;DA909813;NG_016811;NG_028156;NM_005584 AAH28170;ABM82648;ABM85825;BAE45718;BAG36002;BAJ83976;BAJ83977;CAG33701;EAX08547;NP_005575;Q13394 Hs.584776 1676468;2108223;2177716 G09543;MAB21L1_8448;RH80830 CAGR1;FLJ10197;Nbla00126 OTTHUMP00000018238;mab-21-like protein 1;protein mab-21-like 1 APPROVED protein-coding ENSG00000180660 6757 03178 601280 REVIEWED 6480856 MACC1-AS1 MACC1 antisense RNA 1 7 20181539 20193154 + 100874041 AACC02000007;ABBA01056667;AC005083;AC007001;AMYH01017101;BX114725;CH236948;NR_046756 Hs.145104 APPROVED miscrna ENSG00000228598 41257 PREDICTED 1343241 LZTS2 leucine zipper, putative tumor suppressor 2 10 10 10 q24 96494688 96505313 + 102746955 102757580 + 102756864 102767593 + 6480464 18490357;17950943;16713569;16189514;15489334;14702039;12477932;11709705;11347906;16385451;20508983;17000760;8889548;21163940;21139048;21890473;23398456;15231748;21988832;23000965;23275340 84445 B1AL11;B1AL12;B1AL13;Q9BRK4 AB058716;ABBA01063209;ABBA01063210;ABBA01063211;AK097997;AK298208;AL133215;AL834338;AMYH01003003;AY029201;BC005855;BC006212;BC058938;BM544815;CB243010;CH471066;NM_032429 AAH05855;AAH06212;AAH58938;AAK31577;BAB47442;BAG60478;CAD39005;EAW49790;EAW49791;EAW49792;NP_115805;Q9BRK4 Hs.523221;Hs.734981 1675991 RH92972 KIAA1813;LAPSER1;RP11-108L7.8 OTTHUMP00000020289;OTTHUMP00000020290;hLZTS2;leucine zipper putative tumor suppressor 2 protein-coding ENSG00000107816 29381 14341 610454 VALIDATED 1323458 MAB21L2 mab-21-like 2 (C. elegans) This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008] 4 4 4 q31 148822534 148825268 + 151722753 151725295 + 151503077 151505845 + 6480464 10556287;14702039;12477932;17207965;21832049 10586 Q9Y586 ABBA01070091;AC110813;AF155219;AF262032;AF370007;AK055665;AMYH01014612;BC009983;CH471056;NG_032855;NM_006439 AAD40248;AAG09800;AAH09983;AAK54206;ADQ32673;BAG51549;EAX04998;EAX04999;EAX05000;NP_006430;Q9Y586 Hs.584852 FLJ31103 OTTHUMP00000220230;protein mab-21-like 2 APPROVED protein-coding ENSG00000181541 6758 05075 604357 REVIEWED 2974664 MACROD2-AS1 MACROD2 antisense RNA 1 20 p12.1 14864899 14910161 - 100379174 ABBA01053990;ABBA01053991;AL138808;AL161800;AMYH01011729;BC039528;BX417920;NR_037841;NR_072988 Hs.407533 1677088 RH92861 NCRNA00186 APPROVED miscrna ENSG00000235914 37193 VALIDATED 1346781 MAATS1 MYCBP-associated, testis expressed 1 3 3 3 q12-q13.3 117830398 117895034 + 120904559 120968639 + 119421869 119485949 + 6480464 15863901;14702039;14551891;12692006;12477932;12223483;11701469;8889548 89876 F8WC74;F8WEV1;F8WF10;H7C5C8;Q8TD41 AB063296;AB063297;AB063298;ABBA01061577;ABBA01061578;AC069444;AC117466;AF364606;AF440403;AF497717;AK055558;AK289914;AK294413;AK302699;AK303997;AK309317;AK311599;AL133066;AMYH01013419;BC035248;BC126394;BU689679;BX647600;CA950011;CB241685;CR749242;DB445414;NM_033364 AAH35248;AAI26395;AAM19218;AAP97317;ADR83405;BAB60902;BAB60903;BAB60904;BAF82603;BAG51535;BAG57663;BAG63926;BAG64914;CAB61389;CAH18098;NP_203528;Q7Z4T9 Hs.341906 1672999;1675311;1847607 AFMa085wg9;RH46147;RH92245 AAT1;AAT1alpha;C3orf15;DKFZp781A2221;SPATA26 AAT-1;AAT1-alpha;AMY-1-associating protein expressed in testis 1;MYCBP-binding protein;MYCBP/AMY-1-associated testis-expressed protein 1;MYCBP/AMY-1-associated, testis expressed 1;OTTHUMP00000215234;protein MAATS1;spermatogenesis associated 26 APPROVED protein-coding ENSG00000183833 24010 10782 609910 VALIDATED 1602303 MAB21L3 mab-21-like 3 (C. elegans) 1 1 1 p13.1 114883120 114906605 + 116455899 116479384 + 116654376 116677861 + 6480464 14702039;12477932 126868 Q8N8X9 ABBA01068483;AK096035;AL121982;AMYH01000969;BC128148;BC128149;CH471122;NM_152367 AAI28149;AAI28150;BAC04682;EAW56642;EAW56643;NP_689580;Q8N8X9 Hs.376194 5022615 D11S2467 C1orf161;FLJ38716;RP5-1185H19.1 OTTHUMP00000013940;hypothetical protein LOC126868;protein mab-21-like 3 APPROVED protein-coding ENSG00000173212 26787 08245 VALIDATED 1348588 MACROD2-IT1 MACROD2 intronic transcript 1 (non-protein coding) 140848 AI026654;AL139825;CR747489 Hs.570367 C20orf68;NCRNA00227;bA467D7.4 non-protein coding RNA 227 APPROVED miscrna 16201 1354089 M6PR mannose-6-phosphate receptor (cation dependent) This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011] 12 12 p13 8984231 8993519 - 9092957 9102357 - 1580863;6480464 10799489;12493773;19345684;18367545;18088323;18003638;17210618;15620351;15489334;15167696;15078902;14702039;12697764;12477932;11886874;11387475;11106728;10829017;9604938;9590177;8674621;8125298;8099077;7640295;2960682;2441386;2172972;1849818;15469932;16751776;20351714;17207965;12223278;18621992;19801188;19928875;22939629;21139048;22015004;22163010;15044437;11859375;22768187 4074 F5GXE0;F5GXU0;F5H4U1;F5H883;H0YF90;H0YFL0;H0YFY9;H0YGE9;H0YGT2;P20645 AA648974;ABBA01012257;AC006581;AK057556;AK222792;AK291143;AK312689;AMYH01004243;BC017111;BC024206;BG750588;BM546062;BU166950;CH471116;CR457412;DC341018;M16985;NM_001207024;NM_002355;X56253;X56254;X56255;X56256;X56257 AAA59542;AAH17111;AAH24206;ADQ32047;BAD96512;BAF83832;BAG35569;CAB94715;CAG33693;EAW88596;EAW88597;EAW88598;EAW88599;NP_001193953;NP_002346;P20645 Hs.134084;Hs.305985 1645397;1685035;1742897 GDB:214831;RH104;STS-X56253 CD-MPR;FLJ32994;MPR 46;MPR-46;MPR46;SMPR 46 kDa mannose 6-phosphate receptor;46-kDa mannose 6-phosphate receptor;CD Man-6-P receptor;MPR 46;Mr 46,000 Man6PR;OTTHUMP00000238493;cation-dependent mannose-6-phosphate receptor;small mannose 6-phosphate receptor APPROVED protein-coding ENSG00000003056 6752 01106 154540 REVIEWED 1602631 MACC1 metastasis associated in colon cancer 1 MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009] 7 7 p21.1 20140803 20223538 - 20174278 20257013 - 6480464 19098908;12477932;8889548;21508357;22533346;18029348;19499089;19556890;19787327;19807924;20944120;20682999;21498695;21093878;22814258;23095620;23414367;21447729;22179665;22493396;21923915;21955323;21734401;22484916;23665971;22251819;23166620;22838389;23291068 346389 Q6ZN28 AACC02000007;ABBA01056667;ABBA01056668;AC005083;AC007001;AF086401;AJ313524;AK128850;AK131400;AL359055;AMYH01017101;BC137090;BC144470;CB240872;CH236948;CH471073;NM_182762 AAI37091;BAC87646;BAD18547;CAC86408;EAL24276;EAW93719;NP_877439;Q6ZN28 Hs.598388 1341226;1786666;2157041;5014051;5022651;5037552;7187839 D11S2921;D7S2551;D8S2278;D8S2279;GDB:1317646;SHGC-152029 7A5;SH3BP4L OTTHUMP00000158523;OTTHUMP00000201891;SH3 domain-containing protein 7a5;metastasis-associated in colon cancer protein 1;putative binding protein 7a5 APPROVED protein-coding ENSG00000183742 30215 12381 612646 VALIDATED 1346709 MAD2L1P1 MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 1 14 14 14 q23.1 41296830 41298232 + 60316337 60317821 + 61246583 61247985 + 326596 ABBA01018290;AL132777;AMYH01005771;NG_002592 1685794;1744283 GDB:451562;RH80245 MAD2L1P APPROVED pseudo 20019 INFERRED 1347920 MACROD2 MACRO domain containing 2 20 20 20 p12.1 14051522 16108818 + 13924146 15981842 + 13976146 16033842 + 6480464 19240061;18987618;18593871;17586838;16344560;12477932;20663923;19553259;19820697;19847924;20044523;20379614;20708005;20811636;23568457;21656903;18655026;23251661;23509613;23471985 140733 A1Z1Q3 ABBA01053978;ABBA01053979;ABBA01053980;ABBA01053981;ABBA01053982;ABBA01053983;ABBA01053984;ABBA01053985;ABBA01053986;ABBA01053987;ABBA01053988;ABBA01053989;ABBA01053990;ABBA01053991;ABBA01053992;ABBA01053993;ABBA01053994;ABBA01053995;ABBA01053996;ABBA01053997;ABBA01053998;ABBA01053999;ABBA01054000;ABBA01054001;ABBA01054002;ABBA01054003;ABBA01054004;AC006198;AK125899;AK131348;AL031677;AL035073;AL049633;AL049867;AL050324;AL079338;AL117333;AL118503;AL118510;AL121582;AL121584;AL132826;AL133462;AL136991;AL136992;AL138808;AL139825;AL158088;AL161800;AL353798;AL354773;AL355133;AL357654;AMYH01011727;AMYH01011728;AMYH01011729;AMYH01011730;AMYH01011731;AMYH01011732;AMYH01011733;BC018687;BC035876;BC036403;BC101216;BC101217;BC101218;BC101219;BC126936;BC128036;BX281637;CH471133;DB125529;DB495787;DR001087;EF159161;NM_001033087;NM_080676 A1Z1Q3;AAH18687;ABM46908;BAD18504;BAG54262;EAX10302;NP_001028259;NP_542407 Hs.661576 1337756;1339198;1339278;1339321;1340195;1340493;1341144;1645235;1645655;1646106;1650517;1657002;1659274;1659483;1662825;1673426;1673461;1677088;1693362;1693384;1693424;1693426;1693480;1694236;1708590;1713889;1715739;1716249;1717493;1718751;1718887;1724073;1724961;1724963;1725505;1729506;1729954;1731443;1738465;1748913;1749281;1750377;1752259;1753097;1753295;1753317;1753337;1753543;1754785;1755049;1759501;1759967;1761047;1768594;1775715;1846749;1850670;2110409;2115222;2118576;2121984;2122214;2122530;2125856;2128903;2131205;2134847;2137885;2139463;2141261;2141612;2144547;2146767;2150290;2159764;2164078;2169235;2169773;2171320;2176180;2178847;2179461;2180144;2181017;2184421;2187315;5014051;5022578;5037552;7186548;7186882 AL034504;AL034525;AL034526;AL034539;AL035219;D1S1423;D20S1045;D20S138;D20S152;D20S155;D20S166;D20S447;D20S495;D20S497;D20S51;D20S623;D20S66;D20S747;D20S753;D20S798;D20S830;D20S852;D20S898;D20S904;D20S910;D20S98;D8S2278;D8S2279;FLRT3__6738;G10360;G10547;G18071;GDB:314281;RH118768;RH118769;RH118777;RH119149;RH119316;RH119375;RH121152;RH122252;RH123065;RH123149;RH35903;RH68531;RH92861;SGC34935;SHGC-106150;SHGC-110571;SHGC-110959;SHGC-111266;SHGC-112569;SHGC-140535;SHGC-141990;SHGC-145001;SHGC-150944;SHGC-58147;SHGC-68731;SHGC-68832;SHGC-82516;SHGC-84071;SHGC-84441;SHGC-85084;STS-H89893;STS-M78325;WI-10088;Z94278;Z94290;Z94292;Z94312;Z94329;Z94344;Z94377;Z94420;Z94426;Z94442;Z94445;Z94497;Z94528;Z94534;Z94551;Z94565;Z94582;Z94613;Z94632;Z94634;Z94649;Z94697;Z94707 C20orf133;RP11-189J1.1;dJ631M13.5 MACRO domain-containing protein 2;O-acetyl-ADP-ribose deacetylase;O-acetyl-ADP-ribose deacetylase MACROD2;OTTHUMP00000109425;OTTHUMP00000200340;[Protein ADP-ribosylglutamate] hydrolase protein-coding ENSG00000172264 16126 16640 611567 VALIDATED 1603052 MACROD1 MACRO domain containing 1 11 11 q11 63522606 63690094 - 63766030 63933585 - 6480464 19403568;19022849;17914104;17532767;16831279;16368544;15691879;15489334;12790785;12578638;12477932;12107411;19698216;20355243;19824120;20035625;19840441;19958623;21483817 28992 Q9BQ69 ABBA01003284;ABBA01003285;AF086206;AF202922;AMYH01003699;AMYH01003700;AMYH01003701;AP000721;AP006333;BC000270;BC003188;BC007297;BC008316;BQ637198;CH471076;NM_014067 AAF15294;AAH00270;AAH03188;AAH07297;AAH08316;EAW74192;EAW74193;NP_054786;Q9BQ69 Hs.602898 1645604;1715087;1737029;1754901;2109311;2131264;2186685 D11S2779;FLRT1__6736;G19248;RH119495;SGC33133;SHGC-141828;STS-R38365 LRP16 MACRO domain-containing protein 1;O-acetyl-ADP-ribose deacetylase;O-acetyl-ADP-ribose deacetylase MACROD1;OTTHUMP00000237037;[Protein ADP-ribosylglutamate] hydrolase protein-coding ENSG00000133315 29598 17448 610400 VALIDATED 1352225 MACF1 microtubule-actin crosslinking factor 1 This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013] 1 1 p32-p31 39319705 39725376 + 39547089 39952810 + 1580863;6480464 10574462;20937854;10529403;10559237;11443112;17043677;19405953;17113391;17081983;16710414;16097034;16076900;15265687;15231748;14702039;14636561;12477932;12421765;12168954;11845288;11112700;10747097;10601340;9455484;7635207;1074709;18685082;21145461;15604093;20237496;20379614;19913121;20628086;20936779;18239623;16344560;22863883;22939629;20811636;20686565;21139048;21890473;22586326;21628590;16815997;19738201;21295697;23000965;23184944;22505724 23499 B4DQX9;B4E2T3;E9PLY0;E9PLY5;E9PNZ4;E9PS75;F5GZL7;F8W8Q1;H0Y314;H0Y390;H0Y4F5;H0Y6T5;H0Y7I1;H0YD69;H3BPE1;H3BQK9;Q6ZSD7;Q9H540 AB007934;AB029290;AB033077;ABBA01023209;ABBA01023210;ABBA01023211;ABBA01023212;ABBA01023213;ABBA01023214;ABBA01023215;ABBA01023216;ABBA01023217;ABBA01023218;ABBA01023219;ABBA01023220;AF317696;AF325327;AF325328;AF325341;AF325342;AF325343;AI400583;AK023285;AK023406;AK023821;AK127519;AK297854;AK299010;AK304414;AL137853;AL355477;AL356055;AL365277;AL442071;AMYH01000518;AMYH01000519;AMYH01000520;AMYH01000521;BC007330;BC071925;BC107866;BX107650;BX647441;CH471059;DA512687;DR423112;HI574076;HI574078;L40626;NM_012090 AAC31661;AAH07330;AAH71925;AAI07867;AAL09459;AAL38995;AAL38996;AAL38997;AAL38998;AAL38999;AAL39000;BAA32310;BAA83821;BAA86565;BAB14509;BAC87016;BAG60186;BAG61091;BAG65245;CBX47527;CBX47528;EAX07274;EAX07275;EAX07276;EAX07277;EAX07278;EAX07279;EAX07280;EAX07281;EAX07282;NP_036222;Q9UPN3 Hs.472475;Hs.692278 1337976;1341136;1661420;1665392;1692532;1724361;1724969;1744357;1780086;1857279;2123348;2129852;2134547;2164834;2166308;2182525;5015619;5019687;5022200;5022651;5037552;5093686;7187090 A009E27;A009U48;AL009294;AL010132;AL033918;D11S2921;D11S3114;D1S1591;D4S1629;D4S175;D4S192;D8S2279;G32478;G32864;GDB:451809;L18426;RH118772;RH122343;RH70142;SHGC-154406;SHGC-74632;SHGC-74638;SHGC-74734 ABP620;ACF7;FLJ45612;FLJ46776;KIAA0465;KIAA1251;MACF;OFC4 620 kDa actin binding protein;OTTHUMP00000009301;OTTHUMP00000009302;OTTHUMP00000009303;OTTHUMP00000234541;actin cross-linking family protein 7;macrophin 1;microtubule-actin cross-linking factor 1;trabeculin-alpha APPROVED protein-coding ENSG00000127603 13664 09750 608271 REVIEWED 1319368 MAD2L1BP MAD2L1 binding protein The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 45148900 45160310 + 43705257 43716667 + 43597279 43608689 + 1580863;6480464 18022368;12456649;10942595;19276188;17934339;16189514;16169070;15489334;15257285;14574404;12477932;11591653;7788527;21300909;19060904;17207965;22939629;21772247;21937719;21965286;22100920;22544748;20360068;21890473;21906983;22235654;22566641 9587 Q15013 AA883912;ABBA01050671;AK297172;AL136131;AL353602;AL537692;AMYH01016316;BC002904;BE297042;BI255998;BU845738;CB991410;CH471081;CR456893;D14811;NM_001003690;NM_014628 AAH02904;ADQ31873;BAA03552;BAG59665;CAG33174;EAX04219;NP_001003690;NP_055443;Q15013 Hs.122346;Hs.715485 1672713;1684826;2115602;2144889;2150945;2154917 D6S2070;RH17380;RH25335;RH46838;SHGC-35799;WI-18748 CMT2;KIAA0110;MGC11282;RP1-261G23.6 MAD2L1-binding protein;OTTHUMP00000016496;OTTHUMP00000221652;caught by MAD2 protein APPROVED protein-coding ENSG00000124688 21059 10065 REVIEWED 1322050 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [provided by RefSeq, Jul 2008] 4 4 q27 121200037 121207411 - 120980577 120988013 - 1580863;6480464;6907045 18953867;21575600;21472690;11459826;11702782;18794143;21145461;22000412;22405866;22869558;20459534;21335556;10700282;12006501;18022368;18022367;11285280;8824189;14593737;11181178;11535616;11742988;11804586;18981471;19461085;19276188;19261806;19154722;19098431;18852296;18715617;18712773;18692475;18691855;18597777;18541701;18477210;18423499;18383837;18354482;18318601;17998396;17934339;17621272;17498870;17353931;17333263;17268814;17210994;16714000;16525508;16497171;16495226;16214181;16189514;16112690;15591789;15563594;15484292;15457580;15306814;15257285;15070740;15024386;15013707;13678590;12970887;12640463;12574116;12477932;15489334;12456649;12351790;11912137;11907259;11572763;11551900;11134360;10706629;10660610;10527948;10366450;10200259;9736712;9637688;9628895;9615237;9546394;9345911;9092546;8125298;18592005;18997788;14607335;14561775;12196507;11707408;11438673;11274370;11741929;11799067;15694304;15525512;20624899;20189264;21041666;20923822;17363900;17443180;17443186;19229290;19468067;19615732;19620968;19719327;19904549;20007324;20132188;20332099;20440596;20516147;11459825;20190817;21326311;20643875;21046120;23007648;23160376;23239745;23382044;21665145;20512932;21525009;20360068;21751967;21772247;9356466;21832049;21376419;21139048;21890473;21906983;22193957;22170163;22069160;20231385;22100920;21926987;22174851;17360335;19826003;20081372;21743465;22037211;22797604;15824131;21063845;21407176;21963094;21988832;22340593;23000965;22992948;16275333;22053931;22505724 4085 D6RJE3;Q13257 AA443733;AB056160;ABBA01044719;AC097173;AF202273;AF394735;AJ000186;AK223433;AK298228;AK313827;AMYH01014488;BC000356;BC005945;BC070283;CH471056;NM_002358 AAH00356;AAH05945;AAH70283;AAK38174;AAN74648;AAY40945;ACE86742;ACE87428;BAB63410;BAD97153;BAG36562;BAG60497;CAA03943;EAX05270;EAX05271;EAX05273;NP_002349;Q13257 Hs.591697 1681724;1685794;1744283;2108817;5023097 GDB:451562;MAD2L1;MAD2L1_7819;RH80245;SHGC-68173 HSMAD2;MAD2 MAD2 (mitotic arrest deficient, yeast, homolog)-like 1;MAD2-like protein 1;OTTHUMP00000163919;mitotic arrest deficient 2-like protein 1;mitotic arrest deficient, yeast, homolog-like 1;mitotic spindle assembly checkpoint protein MAD2A APPROVED protein-coding ENSG00000164109 6763 03274 601467 REVIEWED 1312218 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 p22 1821954 2239109 - 1855428 2272583 - 1599865;6480464;6907045;7240710 11423979 12006501;9546394;18029348;11181178;11804586;18981471;19010891;18922800;18491369;18318601;17998396;17674037;17333263;16964243;16713569;16565220;16341674;16288203;16189514;15489334;15782113;15302935;15282543;14978040;14702039;12876282;12853948;12477932;12351790;11980658;11370785;11106735;11101889;10597320;10593926;10366450;10229200;10198256;10049595;11707408;10660610;15388328;22493223;15694304;20889312;22778409;21345218;20834067;20544396;17363900;19762557;20379614;20516147;18271930;20624899;20677014;21394085;21772247;22863883;20360068;21139048;21890473;21926972;22351768;21327106;19224688;22294699;22688191;11459826;15824131;21988832;23000965;23314748;23349634;23453885;21525009;22100920 8379 B3KR41;C9J9H5;C9JIR0;C9JJ38;C9JKI7;C9JP81;C9JPS1;C9JTA2;C9JX80;C9K086;Q9Y6D9 AACC02000053;ABBA01039356;ABBA01039357;ABBA01039358;ABBA01039359;ABBA01039360;ABBA01039361;ABBA01039362;AC005282;AC006433;AC069288;AC104129;AC110781;AF083811;AF123318;AK090959;AK310481;AK310831;AK314227;AMYH01016966;AMYH01016967;AMYH01016968;BC009964;BC018870;BM818088;BQ684437;BU617803;CH236953;CH471144;NG_011518;NM_001013836;NM_001013837;NM_003550;U33822 AAC52059;AAD20359;AAD24498;AAH09964;AAP21876;AAS07503;ACE86492;ACE87173;BAG52253;EAL23947;EAW87219;EAW87220;NP_001013858;NP_001013859;NP_003541;Q9Y6D9 Hs.654838 1655272;1659116;1667677;1715619;1766077;2118956;2129875;2144280;2145925;2151445;2151836 A008Z42;D7S1579;GDB:4585273;NIB499;RH119252;RH17785;RH71224;SHGC-149461;SHGC-32279;SHGC-33698;SHGC-56993 HsMAD1;MAD1;PIG9;TP53I9;TXBP181 MAD1-like protein 1;OTTHUMP00000200097;OTTHUMP00000200098;OTTHUMP00000200099;hMAD1;mitotic arrest deficient 1-like protein 1;mitotic checkpoint MAD1 protein homolog;mitotic spindle assembly checkpoint protein MAD1;mitotic-arrest deficient 1, yeast, homolog-like 1;tax-binding protein 181;tumor protein p53 inducible protein 9 APPROVED protein-coding ENSG00000002822 6762 04065 176807;602686 REVIEWED 1344591 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 19 19 p13.3 447490 456343 + 496490 505343 + 1580863;2311550;2311544;2311545;2311549;6480464 11703369;17827401;9313747;14670821 8502297;12588680;19286444;19157500;18308860;16750586;16344560;15483224;15057824;15050155;14702039;14669317;12724634;12586641;12477932;12100519;11807247;11705388;10702270;9873398;9655832;9233649;9212736;9162097;8989586;8609404;2474557;21296888;23297416 8174 Q13477;Q5UGI7 ABBA01002565;ABBA01002566;AC005775;AK092211;AMYH01009186;AMYH01009187;AY732484;AY819760;BC136408;BC137506;BC137507;BC142629;BC144065;CH471242;DB323303;DQ076657;NM_130760;NM_130762;U43628;U80012;U80013;U80014;U80015;U80016;U82483 AAB02194;AAC13661;AAC51354;AAC62844;AAI36409;AAI37507;AAI37508;AAI42630;AAI44066;AAV33123;AAV68345;AAY82472;EAW61194;EAW61195;NP_570116;NP_570118;Q13477 Hs.102598 1666889;1677626 RH93497;SGC33099 MACAM1 MAdCAM-1;hMAdCAM-1;mucosal addressin cell adhesion molecule 1;mucosal addressin cell adhesion molecule-1 APPROVED protein-coding ENSG00000099866 6765 00035 102670 REVIEWED 1604438 MAFA v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008] 8 8 q24.3 144582658 144583719 - 144510230 144512602 - 6480464;6907045 12368292;17941991;18948074;18753309;18522939;18508668;18042454;17636040;16847327;15993959;15665000;15664997;14973194;12011435;11416124;15664999;21278380;21278484;20158571;19393272;19407223;19573128;20208071;20213756;22847061;20718938;22761608 389692 Q8NHW3 AB086960;ABBA01005253;AC105118;AMYH01019107;AY083269;NM_201589 AAI56444;AAL89527;BAC20389;NP_963883;Q8NHW3 Hs.521914 1791766 PMC124472P1 RIPE3b1;hMafA OTTHUMP00000228235;pancreatic beta-cell-specific transcriptional activator;transcription factor MafA;transcription factor RIPE3b1 APPROVED protein-coding ENSG00000182759 23145 14346 610303 VALIDATED 1316729 MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008] 1 1 p36 11657124 11663780 - 11734537 11751678 - 1580863;6480464;6907045 16710414;17719540;19443654;19753112;20054135;20164194;11485998;10366450;17541814;17333263;17296730;17268814;17044027;16618761;15489334;15189446;14702039;14667819;12951035;12529368;12477932;11717438;10660610;10527948;11459826;11277934;15988022;11459825;21143968;21152103;20554254;23007861;23287467;22859296;19060904;23000965;18624398;20360068;21690293;21139048;21890473;21906983;21926160;22303021;22589738;22660985;15380106;22505724;22828282;22869133 10459 B1AK43;B1AK44;B1AK45;B1AK46;B1AK47;Q9UI95 ABBA01003057;AF072933;AF080398;AF139365;AF157482;AK027327;AK094316;AL031731;AMYH01000258;BC015244;BI517654;CH471130;DQ017900;NM_001127325;NM_006341 AAD30290;AAD41647;AAF20267;AAF34357;AAH15244;AAY26393;ABM81964;ABM85143;BAG51305;BAG52858;EAW71697;EAW71698;EAW71699;NP_001120797;NP_006332;Q9UI95 Hs.19400 1681610;1734206;2126430 D1S1742E;G16288;RH80622 MAD2B;POLZ2;REV7 MAD2 (mitotic arrest deficient, yeast, homolog)-like 2;MAD2-like protein 2;OTTHUMP00000002273;OTTHUMP00000002274;OTTHUMP00000002275;OTTHUMP00000002276;OTTHUMP00000002278;REV7 homolog;hREV7;mitotic arrest deficient 2-like protein 2;mitotic arrest deficient homolog-like 2;mitotic spindle assembly checkpoint protein MAD2B;polymerase (DNA-directed), zeta 2, accessory subunit APPROVED protein-coding ENSG00000116670 6764 07246 604094 REVIEWED 1346502 MAFD1 major affective disorder 1 7240710 8533768 4095 1339053;1729916;5024426;7185374 D18S1150;D18S1353;D18S40;D18S71 6777 1353487 MAFD2 major affective disorder 2 7240710 4096 6778 731331 MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 16 16 q22-q23 78185732 78192112 - 79627745 79634622 - 1580863;6480464;7240710 17875642;9616139;19215682;19151714;18616618;18585411;18059226;18058096;17982426;17901057;17897790;22797727;8108109;11036080;17823980;17490615;17044113;16498264;16470690;16424013;15749884;14998494;14998484;14692531;14688382;12939343;12835653;12477932;12381733;12193719;12149651;12011435;11943779;11772997;11295643;9566892;9070273;21362551;19336002;16675956;19687312;19844255;19851340;19883431;20067416;20080955;20127678;17082780;20712903;20571754;20668459;17287852;21565293;21209279;21163924;21216956;20676092;2366175;22494929;21876034;22345400;21767287;22427637;19553542;21833088;23229156;23263486;23408906;22875803 4094 H3BP11;O75444 ABBA01017004;ABBA01017005;AC009159;AF055376;AF055377;AF055378;AF447709;AF540388;AMYH01007835;AMYH01007836;AMYH01007837;BC038438;BC081542;BE644986;BF726289;NG_016440;NM_001031804;NM_005360 AAC27037;AAC27038;AAC27039;AAH81542;AAN76723;AAO16209;NP_001026974;NP_005351;O75444 Hs.134859 1650270;1656805 RH41999;RH47061 CCA4;MGC71685;c-MAF Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene;OTTHUMP00000174965;OTTHUMP00000196745;T lymphocyte c-maf long form;c-maf proto-oncogene;proto-oncogene c-Maf;transcription factor Maf APPROVED protein-coding ENSG00000178573 6776 01518 177075;610202 REVIEWED 732838 MADD MAP-kinase activating death domain Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 p11.2 47247535 47308158 + 47290927 47351582 + 6480464;6484113;7240710 9115275;11577081;14735464;8988362;19289468;19060911;18849981;18794122;18223207;17410194;17314102;16682944;16344560;16273344;15489334;15208670;15007167;14716293;14702039;14695193;12477932;12421765;12410563;10970871;10825539;10756096;9796103;9482930;9205841;15103018;20081858;20185807;20237496;20419449;20484047;20936779;19913121;20571754;20628086;21103350;18029348;21887289;22581228;21139048;21906983;21044950;22482404;21873549;22678883;22529996;22952844 8567 C9J6B0;C9JLZ9;C9JM97;C9K0L0;F8W8U2;Q8IWD7 AB002356;ABBA01060720;ABBA01060721;AC018410;AC090582;AF440100;AF440101;AF440102;AF440103;AF440434;AK092919;AK093619;AK292442;AK308780;AMYH01003541;AU077339;BC040484;BE242736;CH471064;DA187733;DA759613;NG_029462;NM_001135943;NM_001135944;NM_003682;NM_130470;NM_130471;NM_130472;NM_130473;NM_130474;NM_130475;NM_130476;U44953;U48254;U77352 AAB05595;AAB57735;AAD12154;AAH40484;AAL35261;AAL40265;AAL40266;AAL40267;AAL40268;BAA20814;BAF85131;EAW67930;EAW67931;EAW67932;EAW67933;EAW67934;EAW67935;EAW67936;EAW67937;EAW67938;EAW67939;EAW67940;NP_001129415;NP_001129416;NP_003673;NP_569826;NP_569827;NP_569828;NP_569829;NP_569830;NP_569831;NP_569832;Q8WXG6 Hs.82548 1685477;1794632;1795158;2108321;2116349;2144395;2160632;5115848;7184962 NR1H3_7962;PMC33205P3;PMC99927P1;RH76662;RH79033;STS-U22662;WI-20765;ksks34 DENN;FLJ35600;FLJ36300;IG20;KIAA0358;RAB3GEP MAP kinase-activating death domain protein;OTTHUMP00000197131;OTTHUMP00000197132;OTTHUMP00000197133;OTTHUMP00000197134;OTTHUMP00000197135;OTTHUMP00000197136;OTTHUMP00000197137;OTTHUMP00000197138;OTTHUMP00000237191;OTTHUMP00000238029;Rab3 GDP/GTP exchange factor;differentially expressed in normal and neoplastic cells;insulinoma glucagonoma clone 20;insulinoma-glucagonoma protein 20 APPROVED protein-coding ENSG00000110514 6766 04664 231680;603584 REVIEWED 1320456 MAEA macrophage erythroblast attacher This gene product mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. This protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Two immunologically related isoforms of erythroblast macrophage protein with apparent molecular weights of 33 kD and 36 kD were detected in macrophage membranes; this gene encodes the larger isoform. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 1215633 1265565 + 1273672 1323925 + 1283672 1333925 + 6480464 16510120;9763581;17467196;14702039;12477932;16289162;22863883;22939629;16196087;21139048;21890473;21906983;21987572;22158537;18029348;21963094;23000965;23251661;22505724;22797925;22952844 10296 B4DQT1;B4DVN3;D6R8Z3;D6RA86;D6RDW4;D6RE80;D6REW7;D6RIB6;D6RID6;E7ENL1;E7ESC7;Q7L5Y9 AB208907;ABBA01019362;ABBA01019363;AC078852;AF084928;AK001088;AK022515;AK022586;AK091951;AK094253;AK125501;AK127875;AK128302;AK296174;AK298944;AK300572;AK301155;AK308901;AMYH01013854;AMYH01013855;AMYH01013856;AMYH01013857;AMYH01013858;AY189687;AY236486;BC001225;BC006470;BT006957;CH471131;NM_001017405;NM_005882 AAC67543;AAH01225;AAH06470;AAO85220;AAP35603;AAP74806;BAA91499;BAB14072;BAB14113;BAD92144;BAG52449;BAG54590;BAG58910;BAG61043;BAG62274;BAG62745;EAW82586;EAW82587;EAW82588;EAW82589;EAW82590;EAW82591;EAW82592;EAW82593;EAW82594;EAW82595;EAW82596;NP_001017405;NP_005873;Q7L5Y9 Hs.139896 1690244;1749329;1764895;1796270;1854676 HSCZXD042;MAEA_904;RH91095;SHGC-111090;SHGC-148451 EMLP;EMP;GID9;HLC-10;PIG5 GID complex subunit 9, FYV10 homolog;OTTHUMP00000217706;OTTHUMP00000217707;OTTHUMP00000217708;OTTHUMP00000217709;OTTHUMP00000217710;OTTHUMP00000217711;OTTHUMP00000217716;OTTHUMP00000217718;cell proliferation-inducing gene 5 protein;erythroblast macrophage protein;human lung cancer oncogene 10 protein;lung cancer-related protein 10;macrophage erythroblast attacher;proliferation-inducing gene 5 APPROVED protein-coding ENSG00000090316 13731 08427 606801 REVIEWED 1605917 MAEL maelstrom spermatogenic transposon silencer 1 1 1 q24.1 140063652 140096580 + 165225143 165258071 + 166958519 166991447 + 6480464 19693694;19536175;19064610;16710414;15489334;14702039;12477932;20379614;18029348;17207965;18694567 84944 Q96JY0 ABBA01047253;AK027810;AK131066;AK302253;AL133073;AL158837;AMYH01001480;BC028595;BC034310;CH471067;DQ076156;GU383113;GU383114;NM_032858 AAH28595;AAH34310;AAY82463;ADQ32386;ADU33235;ADU33236;BAB55385;BAG63605;CAB61396;EAW90780;EAW90781;EAW90782;NP_116247;Q96JY0 Hs.651245 2148880;5015861;5022651;7185938 D10S16;D11S2921;G16295 CT128;FLJ14904;RP11-102C16.1;SPATA35 OTTHUMP00000032343;OTTHUMP00000032344;cancer/testis antigen 128;maelstrom homolog;protein maelstrom homolog;spermatogenesis associated 35 APPROVED protein-coding ENSG00000143194 25929 08609 611368 VALIDATED 2303835 MAFIP MAFF interacting protein (pseudogene) This gene was originally thought to be a protein coding gene. However, the encoded protein sequence is highly similar to the C-terminal sequence of the tektin-4 protein, and the transcript sequences of this gene are highly similar to the TEKT4 pseudogenes, which are found on chromosomes 4, 21 and Y, respectively. Therefore, this gene is thought to be another pseudogene of the TEKT4 gene (GeneID:150483). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012] 16549056;15881666;15498874;14702039;21109981;21834855;16344560;19723544 727764 Q8TEH8;Q8WZ33 ABBA01005983;AC145212;AF289559;AK074146;AK096952;BG771232;CA419667;DA007572;NR_046439;NR_046440;NR_046441;NR_046442 AAL55743;BAB84972;Q8WZ33 Hs.626311 1694758;1786990;2111288;2153135 D17S837;G27368;G43582;SHGC-147299 FLJ00219;FLJ39633;MIP;TEKT4P4;pp5644 MAFF interacting protein;maFF-interacting protein;tektin-4 like protein PP5644 APPROVED pseudo 31102 VALIDATED 732545 MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008] 20 20 q11.2-q13.1 38747929 38751290 - 39314515 39317876 - 1580863;6480464 10698492;8620536;8001130;18029348;19060906;19013005;18832725;18830254;18615156;16473681;16456583;15598817;15489334;15135046;15121870;14702039;12798298;12542796;12542795;12477932;11780052;21839147;10909854;10444328;8632993;11036080;15107855;12499396;14965474;19332055;19395026;20436469;20581830;20211142;20506502;12196529;20969674;21567910;21129249;21988832;22387013;21834038;20686565;21732829;23251661;16344560;2366175;16219768;22753311;22903061 9935 Q9Y5Q3 ABBA01052564;AF086178;AF134157;AK027324;AL035665;AMYH01011910;BC028098;BC036689;BQ271704;CH471077;DA719830;NG_023378;NM_005461 AAD30106;AAH28098;AAH36689;BAG51303;EAW76000;NP_005452;Q9Y5Q3 Hs.169487 1699042;1775178;1792996;5017831 G06850;MAFB;PMC180917P2;RH103094 KRML;MCTO;MGC43127 Kreisler maf-related leucine zipper homolog;MAFB/Kreisler basic region/leucine zipper transcription factor;OTTHUMP00000031698;maf-B;transcription factor MafB;v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b (avian) APPROVED protein-coding ENSG00000204103 6408 07129 166300;608968 REVIEWED 1601952 MAF1 MAF1 homolog (S. cerevisiae) This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008] 8 8 q24.3 145231293 145234503 + 145159305 145162515 + 6480464 11256614;17505538;17499043;17081983;16189514;15489334;12504022;12477932;11438659;11230166;10737800;8889548;21383183;16169070;17205138;20233713;20817737;20543138;17207965;21428925;21906983;21900206;22810236 84232 E9PJ05;E9PR76;E9PSH4;H0YEV4;Q9H063 ABBA01005225;AC104592;AL136937;AMYH01019127;BC014082;BC018714;BC031273;BE093055;BE515145;BF339064;BF984144;BG179308;BG757465;BM721318;CH471162;CR533463;DN997000;NM_032272 AAH14082;AAH18714;AAH31273;ADQ31906;ADZ16003;CAB66871;CAG38494;EAW82158;EAW82159;NP_115648;Q9H063 Hs.19673 1689937;2124587 RH65611;RH79825 MGC20332;MGC31779;MGC39758 OTTHUMP00000229044;OTTHUMP00000229045;OTTHUMP00000229046;homolog of yeast MAF1;repressor of RNA polymerase III transcription MAF1 homolog APPROVED protein-coding ENSG00000179632 24966 14345 610210 REVIEWED 5684558 MAFG-AS1 MAFG antisense RNA 1 (head to head) 17 q25.3 79885705 79888629 + 12477932 92659 ABBA01019654;AC145207;AMYH01008724;BC009233;BC025326;BC038198;BC046361;BC063671;BC134411;NR_015454 Hs.336958 APPROVED miscrna ENSG00000265688 43649 VALIDATED 1319919 MAFF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 22 22 q13.1 36927944 36942460 + 38597939 38612518 + 1580863;6480464 10527846;16549056;16371591;16344560;15489334;14702039;12490281;12477932;11772409;11036080;10591208;8932385;8107826;16169070;19723544;20211142;8816476;20360068;19471022;21693764;21988832;2366175 23764 B0QY70;B0QY71;Q9ULX9 AB025247;ABBA01055508;ABBA01055509;AI610651;AJ010857;AK002001;AK097953;AK300932;AL021977;AMYH01012760;BC015037;BC067751;CH471095;DA209378;DA425613;DA654696;DB319587;NM_001161572;NM_001161573;NM_001161574;NM_012323 AAH15037;AAH67751;BAA86871;BAA92029;BAG62561;CAB52435;EAW60221;NP_001155044;NP_001155045;NP_001155046;NP_036455;Q9ULX9 Hs.517617 1738473;1784490;2108227;5024039 D16S325;D22S1054;MAFF__7349;SHGC-106918 U-MAF;hMafF OTTHUMP00000199298;OTTHUMP00000199300;OTTHUMP00000199301;transcription factor MafF;v-maf avian musculoaponeurotic fibrosarcoma oncogene family protein F APPROVED protein-coding ENSG00000185022 6780 05343 604877 REVIEWED 1350091 MAFK v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008] 7 7 p22.3 1536894 1549205 + 1570368 1582679 + 1580863;6480464 9150357;14702039;12853948;12805554;12690205;12477932;11013233;10747902;10037736;9878398;9763667;8887638;8355703;11036080;17083329;19011633;8816476;17046816;18241676;22855609;18538669;21890473;21987572;21988832;23000965;20360068;19471022;21693764;22505724 7975 A4D214;O60675 AACC02000053;ABBA01039346;AC093734;AF059194;AK056767;AK092414;AL831913;AMYH01016962;BC012777;BC094871;BC143040;BC143041;BC148194;BC148265;BC152387;CH236953;CH471144;NM_002360 AAC14426;AAI48266;AAI52388;AAP21866;BAG52549;CAD38575;EAL23943;EAW87207;EAW87208;NP_002351;O60675 Hs.520612 1769953;2175837 A007E29;RH78695 FLJ32205;MGC71717;NFE2U;P18 OTTHUMP00000200037;OTTHUMP00000200038;OTTHUMP00000200039;basic-leucine zipper transcription factor MafK;erythroid transcription factor NF-E2 p18 subunit;nuclear factor erythroid-2, ubiquitous (p18);transcription factor MafK;v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K;v-maf musculoaponeurotic fibrosarcoma oncogene homolog K APPROVED protein-coding ENSG00000198517 6782 02561 600197 VALIDATED 1352039 MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010] 17 17 q25.3 77469438 77478879 - 79876145 79885587 - 1580863;6480464 12477932;16751776;9286713;17928287;16716189;16169070;15489334;12496124;12149651;11875518;11154691;11036080;11013233;9763667;9421508;9195958;9166829;9150357;8932385;8889548;19011633;20211142;8816476;20689807;22942279;21555518;22855609;19471022;20360068;21693764;21890473;21987572;22321011;18538669;21988832;22939624;23000965;2366175;22505724 4097 I3L2F8;O15525 AA775797;ABBA01019653;ABBA01019654;AC145207;AF059195;AK130699;AL520760;AMYH01008723;AMYH01008724;BC006143;BC012327;BC103722;BE258646;BE264273;BF976800;BI763651;BM721518;BQ212603;BU195720;CH471099;DQ591919;DR156847;NM_002359;NM_032711;U84249;Y11514 AAC14427;AAC51737;AAH12327;ABM81635;CAA72284;EAW89712;EAW89715;NP_002350;NP_116100;O15525 Hs.252229;Hs.744113 1734504;2108229;2116301;2185079 D17S1450E;D17S2144;MAFG__7350;RH78412 MGC13090;MGC20149;hMAF basic leucine zipper transcription factor MafG;hMAF;transcription factor MafG APPROVED protein-coding ENSG00000197063 6781 03605 602020 VALIDATED 732303 MAG myelin associated glycoprotein The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010] 19 19 q13.1 40474878 40496547 + 35782989 35804710 + 1580863;6480464 7505568;19725832;19151627;18941509;18816614;18496213;18236455;17974963;17964117;16039057;15820319;15489334;15146195;15057824;14702039;12528815;12477932;12237860;12160746;12089450;12020971;12011108;11733546;11423128;9668345;8432525;8125298;7525550;6177705;2655996;2479762;2476987;2475262;2447011;2446864;1282933;12426574;12558975;12692556;12951563;17335080;19720975;21832049;21199182;22491194 4099 M0QZU4;M0R3B9;M0R3I4;P20916;Q53ES7 ABBA01018739;ABBA01018740;AC002132;AD000684;AK094545;AK222649;AK222680;AK223562;AK294644;AK308976;AMYH01009726;AMYH01009727;BC034042;BC053347;BC093045;BI755065;DC331168;M29273;NM_001199216;NM_002361;NM_080600;X98405 AAA59545;AAB58805;AAH53347;AAH93045;BAD96369;BAD96400;BAD97282;BAH11831;CAA67055;NP_001186145;NP_002352;NP_542167;P20916 Hs.643440 1685191;1734142;2156174;2217578 D19S609;MAG_3070;RH80561;WI-15623 GMA;S-MAG;SIGLEC-4A;SIGLEC4A myelin-associated glycoprotein;sialic acid binding Ig-like lectin 4A;sialic acid-binding immunoglobulin-like lectin 4A APPROVED protein-coding ENSG00000105695 6783 01160 159460 REVIEWED 2925270 MAGEA13P melanoma antigen family A, 13 pseudogene X X X q26.3 137930826 137932422 + 137388113 137393858 + 137564847 137566443 + 139363 A6NCF6 ABBA01065945;AMYH01023055;CH471150;NG_022882;Z81311 A6NCF6;EAW88445 pseudo 35154 INFERRED 1345818 MAGEA10 melanoma antigen family A, 10 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011] X X X q28 151548374 151552508 - 151053547 151057681 - 151301782 151307050 - 6480464 15489334;15355897;12477932;10446460;8575766;7927540;17039243;17650306;18237105;18322177;21710496;16344560;16712791;21906983;21139048;22116775;23000965 4109 B2RAE8;C9J958;C9J9A2;J3KT71;J3QRD7;P43363 ABBA01037289;ABBA01037290;AC116666;AK314161;AMYH01023230;AMYH01023231;AX026469;AX026473;AY522506;AY531264;BC004105;BQ026281;CB158974;CB959556;CH471169;DA827990;NM_001011543;NM_001251828;NM_021048;U10685 AAA68869;AAH04105;ABM83957;ABM87274;BAG36845;CAC09073;CAC09076;EAW99421;EAW99422;NP_001011543;NP_001238757;NP_066386;P43363 Hs.18048 1744947;5037552 D8S2279;GDB:581731 CT1.10;MAGE10;MGC10599 MAGE-10 antigen;OTTHUMP00000025894;OTTHUMP00000025895;OTTHUMP00000025896;cancer/testis antigen 1.10;cancer/testis antigen family 1, member 10;melanoma-associated antigen 10 APPROVED protein-coding ENSG00000124260 6797 02280 300343 REVIEWED 1348245 MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] X X q28 152134716 152139310 - 152481522 152486116 - 1580863;6480464 1840703;19259094;18820946;18197853;18094622;17704924;17634428;17611652;17208940;17007017;16516880;16497664;16344560;16189514;16114059;15489334;15353125;15342556;15316101;15059299;14672620;12525503;12477932;12443884;11776148;11691819;10854409;10363990;8647853;8575766;8302824;8113684;8050815;8039421;8037761;7927954;7927540;7823968;7627949;21042944;20592351;18505125;19467731;20423514;21273595;20348248;20420712;20862285;21139048;21906983;21987572;22134685;22447174 4100 AAB33086;P43355;Q8WX99 ABBA01023742;ABBA01023743;ABBA01023744;AC152005;AC236972;AF463515;AK314979;AMYH01023274;AY148486;BC017555;BP314195;BT009789;CA428506;CH471172;DB053667;EU161102;FB746165;M77481;NG_013243;NM_004988 AAA03229;AAB33086;AAH17555;AAL69948;AAN62752;AAP88791;ABM82075;ABM85255;ABW06861;BAG37478;CAT04602;EAW72885;NP_004979;P43355 Hs.72879 1852251 G29877 CT1.1;MAGE1;MGC9326 MAGE-1 antigen;OTTHUMP00000025911;antigen MZ2-E;cancer/testis antigen 1.1;cancer/testis antigen family 1, member 1;melanoma antigen MAGE-1;melanoma antigen family A 1;melanoma-associated antigen 1;melanoma-associated antigen MZ2-E APPROVED protein-coding ENSG00000198681 6796 02059 300016 REVIEWED 1349031 MAGEA11 melanoma antigen family A, 11 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q28 148575477 148604507 - 148769903 148798928 + 1580863;6480464 16189514;19372581;19147576;18212060;18048459;17081983;15684378;15489334;14702039;12477932;10521804;9495246;8575766;7927540;20448036;19828458;21730049;18029348;21139048;22334658;23172223;22891251 4110 C9J2X2;G5E962;P43364 ABBA01027296;ABBA01027297;ABBA01027298;ABBA01027299;ABBA01027300;AC016939;AC139014;AC231844;AC232272;AC244098;AC244197;AI691089;AK127849;AMYH01023193;AMYH01023194;AY747607;BC004479;BQ212898;BX337921;CH471169;NG_012803;NM_001011544;NM_005366;U10686 AAA68870;AAH04479;AAW71787;BAC87161;EAW99364;EAW99365;EAW99366;NP_001011544;NP_005357;P43364 Hs.670252 1744949;1775339 GDB:581735;SGC35635 CT1.11;MAGE-11;MAGE11;MAGEA-11;MGC10511 MAGE-11 antigen;OTTHUMP00000024217;OTTHUMP00000082460;cancer/testis antigen 1.11;cancer/testis antigen family 1, member 11;melanoma-associated antigen 11 APPROVED protein-coding ENSG00000185247 6798 02281 300344 REVIEWED 1352065 MAGEA12 melanoma antigen family A, 12 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009] X X X q28 152144103 152147994 - 151649949 151653828 - 151899293 151903184 - 6480464 12477932;10854409;8575766;8276455;8037761;7927540;16189514;18197853;18057533;17634428;15489334;8889548;21139048;21987572;22707303;21963094;23000965 4111 P43365;Q6FHH8 ABBA01043701;AF002997;AK314168;AMYH01023240;BC003408;BC098146;BQ436888;BT007108;CF123053;CH471169;CR541775;L18877;NG_013228;NG_015852;NM_001166386;NM_001166387;NM_005367 AAA19023;AAH03408;AAP35772;ABM81927;ABM85104;BAG36852;CAG46574;EAW99432;NP_001159858;NP_001159859;NP_005358;P43365 Hs.169246 1744951;5125115;5125117 GDB:581738;SHGC-35594;SHGC-35597 CT1.12;MAGE12 MAGE-12 antigen;MAGE12F antigen;OTTHUMP00000024231;cancer/testis antigen 1.12;cancer/testis antigen family 1, member 12;melanoma-associated antigen 12 APPROVED protein-coding ENSG00000213401 6799 02169 300177 REVIEWED 1348686 MAGEA7P melanoma antigen family A, 7, pseudogene X X X q28 149221331 149221608 + 148697998 148698275 + 148890201 148890478 + 8575766;7927540 4106 ABBA01027305;AC016939;AC232272;AC244098;AMYH01023210;NG_001156;U10692 1744941 GDB:581722 MAGE7;MAGEA7 APPROVED pseudo 6805 INFERRED 1349621 MAGEA2B melanoma antigen family A, 2B This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. [provided by RefSeq, Jul 2008] X X q28 151634487 151637752 + 151885384 151887080 + 6480464 15489334;12477932;10854409;8575766;8276455;8113684;7927540;1840703;16847267;20864041;21963094;21987572 266740 B9A060;E7ENJ0;E7EP80;E7EQY6;E7ER35;E9PC03;P43356;Q96E03 ABBA01043700;AC244102;AF002997;AK290443;BC013098;BC063681;BC108720;BC109188;BC112158;BC112160;NM_153488;U82671 AAH13098;AAH63681;AAI08721;AAI09189;AAI12159;AAI12161;ABM82609;ABM85794;BAF83132;NP_705692;P43356 Hs.534597;Hs.713061 1687958;2110497;2182344;5493371 G29880;MAGEA2__7353;RH80789;UniSTS:485861 MAGE2;MAGEA2;MGC16973 CT1.2;MAGE-2 antigen;OTTHUMP00000024226;OTTHUMP00000205534;OTTHUMP00000205535;OTTHUMP00000205536;OTTHUMP00000205537;OTTHUMP00000205539;OTTHUMP00000205540;cancer/testis antigen 1.2;melanoma antigen 2;melanoma antigen, family A, 2, copy b;melanoma-associated antigen 2 APPROVED protein-coding 19340 14347 300549 REVIEWED 1606582 MAGEA2 melanoma antigen family A, 2 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X q28 151669044 151673020 - 151918388 151922364 - 6480464 18197853;17634428;16847267;15489334;12525503;12477932;10854409;8575766;8416750;8276455;8113684;7927540;7591235;1840703;21422315;16341674;20864041;21963094;22117195;22134685 4101 P43356;Q6P448 AC244102;AF002997;AK290443;BC013098;BC063681;BC108720;BC109188;BC112158;BC112160;BG575302;BM781931;CH471169;L18920;NM_005361;NM_175742;NM_175743;U82671 AAA17729;AAH13098;AAH63681;AAI08721;AAI09189;AAI12159;AAI12161;AAI46450;BAF83132;EAW99429;EAW99430;EAW99431;NP_005352;NP_786884;NP_786885;P43356 Hs.534597;Hs.713061 1687958;2110497;2182344;5493371 G29880;MAGEA2__7353;RH80789;UniSTS:485861 CT1.2;MAGE2;MAGEA2A;MAGEA2B;MGC131923 MAGE-2 antigen;OTTHUMP00000024219;cancer/testis antigen 1.2;cancer/testis antigen family 1, member 2;melanoma antigen 2;melanoma-associated antigen 2 APPROVED protein-coding ENSG00000184750 6800 02165 300173 REVIEWED 7243079 MAGEA8-AS1 MAGEA8 antisense RNA 1 (head to head) 16344560;23223008 101410537 AC016941;CB961226;DA302815;DA783364;NR_102703 miscrna 45093 VALIDATED 1353296 MAGEA3 melanoma antigen family A, 3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] X X q28 151685308 151688896 - 151934652 151938240 - 6480464 21452042;19261683;18982744;18829569;18483279;18381936;18316621;18237105;18197853;18181974;17699848;17634428;17495964;17007017;16806467;16516880;16446550;16114059;15885805;15489334;14672620;12710945;12477932;12393675;11691819;10854409;9044853;8575766;8125298;8113684;8037761;7927540;7757970;7591235;1840703;9700202;20036422;18505125;19326132;19795170;21273595;20423514;20591578;21135695;21264495;21876767;20015885;21556122;21565982;21347689;19471022;22183072;20864041;21906983;21804405;22134685;22498264;22323448;22925930 4102 E7EMU0;P43357 AC244102;AF002997;AK223519;AK292384;AMYH01023243;BC000340;BC005963;BC011744;BC016803;BC017389;CR541767;CR541768;CR541774;CR542020;NG_013244;NM_005362;U03735 AAA17446;AAH00340;AAH05963;AAH11744;AAH16803;AAH17389;ABM82776;ABM85966;BAD97239;BAF85073;CAG46566;CAG46567;CAG46573;CAG46817;NP_005353;P43357 Hs.417816 1744933;2109489;5125115;5125117 GDB:581707;MAGEA3_8451;SHGC-35594;SHGC-35597 CT1.3;HIP8;HYPD;MAGE3;MAGEA6;MGC14613 MAGE-3 antigen;OTTHUMP00000024220;OTTHUMP00000024221;antigen MZ2-D;cancer/testis antigen 1.3;cancer/testis antigen family 1, member 3;melanoma-associated antigen 3 APPROVED protein-coding ENSG00000221867 6801 02166 300174 REVIEWED 1348802 MAGEA8 melanoma antigen family A, 8 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2009] X X X q28 149293931 149298625 + 148770654 148775266 + 149009941 149014609 + 6480464 12477932;10521804;8575766;7927540;8889549 4107 B2R9W4;P43361 AA045817;ABBA01027319;AC016941;AC244099;AK313943;AMYH01023210;BC002455;BC012744;BC098120;BI092675;BT007340;CH471169;NG_015868;NM_001166400;NM_001166401;NM_005364;U10693 AAA68876;AAH02455;AAH12744;AAP36004;BAG36661;EAW99373;NP_001159872;NP_001159873;NP_005355;P43361 Hs.522803 1744943;2110501;5015341 GDB:581725;MAGEA8_8453;SGC35637 CT1.8;MAGE8;MGC2182 MAGE-8 antigen;OTTHUMP00000024218;cancer/testis antigen 1.8;cancer/testis antigen family 1, member 8;melanoma-associated antigen 8 APPROVED protein-coding ENSG00000156009 6806 02278 300341 REVIEWED 1343521 MAGEA5 melanoma antigen family A, 5 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This MAGEA gene encodes a protein that is C-terminally truncated compared to other family members, and this gene can be alternatively interpreted to be a pseudogene. The protein is represented in this Gene record in accordance with the assumed protein-coding status defined in the literature. Read-through transcription exists between this gene and the upstream melanoma antigen family A, 10 (MAGEA10) gene. [provided by RefSeq, Oct 2011] X X X q28 151528019 151531937 - 151033182 151037100 - 151282521 151286411 - 6480464 18197853;15489334;12477932;10521804;8575766;7927540;22134685 4104 P43359 ABBA01037286;AF274856;AI200443;AMYH01023230;AY310324;BC109187;CH471169;NG_016417;NM_021049;U10689;U10690 AAA68873;AAA68874;AAI09188;EAW99420;NP_066387;P43359 Hs.668021 1744937;2124727 DXS7493;GDB:581715 CT1.5;MAGE5;MAGEA4;MGC129526 MAGE-5 antigen;MAGE-5a antigen;MAGE-5b antigen;OTTHUMP00000217952;cancer/testis antigen 1.5;cancer/testis antigen family 1, member 5;melanoma-associated antigen 5 APPROVED protein-coding ENSG00000242520 6803 02277 300340 REVIEWED 1353190 MAGEB16 melanoma antigen family B, 16 X X X p21.1 39944075 39949468 + 35726380 35731773 + 35816459 35821852 + 6480464 15772651;11454705 139604 A2A368 ABBA01073510;AL161722;AMYH01022206;NM_001099921 A2A368;NP_001093391 Hs.700562 1787410 SHGC-78982 MAGE-B16 antigen;OTTHUMP00000159283;OTTHUMP00000159284;OTTHUMP00000159285;melanoma antigen family B, 16 (pseudogene);melanoma-associated antigen B16 protein-coding ENSG00000189023 21188 300762 VALIDATED 2301779 MAGEB17 melanoma antigen family B, 17 X X X p22.2 20302062 20307798 + 16093700 16100589 + 16185604 16189516 + 15772651;11454705 645864 A8MXT2 ABBA01071388;ABBA01071389;AC078993;AMYH01022110;CH471074;DV080535;NM_001277307;XM_001719394;XM_003119193;XM_003960825 A8MXT2;EAW98911;NP_001264236;XP_001719446;XP_003119241;XP_003960874 OTTHUMP00000159267;melanoma antigen family B, 17;melanoma antigen family B, 17 (pseudogene);melanoma-associated antigen B17 protein-coding ENSG00000182798 17418 300763 VALIDATED 1353714 MAGEA4 melanoma antigen family A, 4 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] X X q28 150832017 150844298 + 151081361 151093642 + 6480464 20591578;12525503;14739298;19533752;18982744;18197853;17214847;16651421;16596224;16189514;16114059;16061876;15489334;12759544;12477932;12209997;12209610;11985796;11502003;9119398;8575766;8037761;7927540;7642112;7591235;16712791;19545928;17207965;20862285;20715104;21832049;21264495;23172894;21815906;21556122;21452042;21139048;21906983;21613820;22134685;22323448;21044950;22842486;23000965;22653756 4103 C9J9C2;C9JIR1;C9JK50;C9JZJ5;P43358 ABBA01037266;ABBA01037267;ABBA01037268;AF274855;AK300179;AK313862;AMYH01023226;AMYH01023227;AMYH01023228;AMYH01023229;AY954624;BC017723;BC096712;BM548926;BM562570;BX479311;CB120212;CH471169;D32075;D32077;NG_013245;NM_001011548;NM_001011549;NM_001011550;NM_002362;U10340;U10687;U10688 AAA19007;AAA68871;AAA68872;AAH17723;AAH96712;AAY27261;ABM82611;ADQ32337;BAA06841;BAA06843;BAG36590;BAG61958;EAW99410;EAW99411;EAW99412;EAW99413;NP_001011548;NP_001011549;NP_001011550;NP_002353;P43358 Hs.37107 1744935;1795180;2110499;2181857 GDB:581711;HSC273_(Tri381);MAGEA4_8452;SGC35636 CT1.4;MAGE-41;MAGE-X2;MAGE4;MAGE4A;MAGE4B;MGC21336 MAGE-4 antigen;MAGE-41 antigen;MAGE-X2 antigen;OTTHUMP00000025881;OTTHUMP00000025882;OTTHUMP00000025883;OTTHUMP00000025884;OTTHUMP00000025885;OTTHUMP00000025886;OTTHUMP00000025887;OTTHUMP00000025889;OTTHUMP00000025890;OTTHUMP00000025891;cancer/testis antigen 1.4;cancer/testis antigen family 1, member 4;melanoma-associated antigen 4 APPROVED protein-coding ENSG00000147381 6802 02167 300175 REVIEWED 1603231 MAGEA6 melanoma antigen family A, 6 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X q28 151617901 151621470 + 151867245 151870814 + 6480464 17353931;18197853;15489334;12631591;12477932;12208877;8575766;8037761;7927540;7642112;16341674;20864041;21139048;21906983;21963094;22134685;21987572;22707303;23000965 4105 E7ETG4;E7EUF2;P43360 ABBA01043699;ABBA01043700;AC244102;AF002997;AK289437;AMYH01023234;AMYH01023235;BC041599;BC067731;BM843807;BX640600;D32076;EU161101;NM_005363;NM_175868;U10339;U10691 AAA19006;AAA68875;AAH41599;AAH67731;ABW06860;BAA06842;BAF82126;CAE45706;NP_005354;NP_787064;P43360 Hs.441113 1744939;2109489;5125115;5125117 GDB:581719;MAGEA3_8451;SHGC-35594;SHGC-35597 CT1.6;MAGE-3b;MAGE3B;MAGE6;MGC52297 MAGE-6 antigen;MAGE3B antigen;OTTHUMP00000024223;OTTHUMP00000024224;OTTHUMP00000205538;cancer/testis antigen 1.6;cancer/testis antigen family 1, member 6;melanoma-associated antigen 6 APPROVED protein-coding ENSG00000197172 6804 02168 300176 REVIEWED 1344901 MAGEA9 melanoma antigen family A, 9 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008] X X X q28 149194726 149200530 + 148671402 148677206 + 148863600 148869399 + 6480464 19533752;15900605;15489334;10521804;9147653;8575766;7927540;12477932;19147576 4108 E5RFS8;E5RH97;E5RJ34;E5RJI2;P43362 AC016939;AC232272;AC244098;AK292272;AK313321;AY310325;BC002351;BC098100;CH471169;NM_005365;U10694;U66083 AAA68877;AAB67888;AAH02351;AAI56348;AAI57102;AAP82171;ABM82347;ABM85521;BAF84961;BAG36126;EAW99372;NP_005356;P43362 Hs.512582 1744945;2108231;2166578;5015341 GDB:581728;MAGEA9_8454;SGC35637;SHGC-35638 CT1.9;MAGE9;MAGEA9B;MGC8421 MAGE-9 antigen;OTTHUMP00000226030;OTTHUMP00000226031;OTTHUMP00000226032;OTTHUMP00000226034;cancer/testis antigen 1.9;cancer/testis antigen family 1, member 9;melanoma-associated antigen 9 APPROVED protein-coding ENSG00000166008 6807 02279 300342 REVIEWED 1642211 MAGEA9B melanoma antigen family A, 9B MAGEA9B is a duplication of the MAGEA9 gene (MIM 300342) on chromosome Xq28. The 2 copies are separated by about 194 kb (Hartz, 2009).[supplied by OMIM, Mar 2009] X X q28 148471105 148476911 - 148663309 148669116 - 6480464 16344560;12477932;8575766;7927540;14702039;15489334;9147653 728269 P43362 ABBA01049646;AC016940;AC233288;AC244197;AK292272;AK313321;AMYH01023193;AY310325;BC002351;BC098100;DB015621;NM_001080790 AAH02351;AAP82171;BAF84961;BAG36126;NP_001074259;P43362 Hs.460974;Hs.512582 1744945;2108231;2166578;5015341 GDB:581728;MAGEA9_8454;SGC35637;SHGC-35638 MAGEA9 CT1.9;MAGE-9 antigen;OTTHUMP00000216441;cancer/testis antigen 1.9;melanoma antigen family A, 9 -like;melanoma-associated antigen 9 APPROVED protein-coding ENSG00000123584 31909 300764 VALIDATED 1349538 MAGEB5 melanoma antigen family B, 5 X X X p21.3 30361713 30363673 + 26144178 26146308 + 26235209 26236246 + 10861452 347541 Q9BZ81 AC005297;AF333705;CR747535;NM_001271752;XM_003846439;XM_003846762 AAK00357;NP_001258681;Q9BZ81;XP_003846487;XP_003846810 Hs.224079 2107307 MAGEB5__7358 CT3.3;MAGE-B5 MAGE family testis and tumor-specific protein;MAGE-B5 antigen;cancer/testis antigen 3.3;cancer/testis antigen family 3, member 3;melanoma-associated antigen B5 protein-coding 23795 300466 VALIDATED 1351406 MAGEB1 melanoma antigen family B, 1 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] X X X p21.3 34383468 34391775 + 30171769 30180076 + 30261848 30270155 + 6480464 18029348;15772651;15489334;12477932;12018852;9441743;8535061;7761436;16344560;19953087;21906983 4112 P43366;Q96TG1 ABBA01072922;AC005185;AK314977;AMYH01022191;BC013772;BU166425;CH471074;CR541762;DB022312;NG_016336;NM_002363;NM_177404;NM_177415;S80936;U93163;X82539 AAC23616;AAC97145;AAD10634;AAH13772;ABM81611;ABM84793;BAG37476;CAA57889;CAG46562;EAW99049;NP_002354;NP_796379;NP_803134;P43366 Hs.73021 1681518;1702206;2107305;2110503;7184041 DXS1020;MAGEB1__7355;MAGEB4__7357;RH80239 CT3.1;DAM10;MAGE-Xp;MAGEL1;MGC9322 DSS-AHC critical interval MAGE superfamily 10;DSS/AHC critical interval MAGE superfamily 10;MAGE-B1 antigen;MAGE-XP antigen;OTTHUMP00000023101;cancer/testis antigen 3.1;cancer/testis antigen family 3, member 1;melanoma-associated antigen B1 APPROVED protein-coding ENSG00000214107 6808 02108 300097 REVIEWED 1351509 MAGEB6P1 melanoma antigen family B, 6 pseudogene 1 X X X p21.3 30306156 30307965 + 26088639 26089862 + 26178643 26180530 + 392433 ABBA01072504;AC129850;AMYH01022169;NG_008389 MAGEB6B APPROVED pseudo 28824 INFERRED 1606155 MAGEB10 melanoma antigen family B, 10 This gene encodes a member of the B subfamily of the melanoma associated antigen protein family. The encoded protein is specifically expressed in testis and tumor cells. [provided by RefSeq, Apr 2010] X X X p21.3 31954589 31969417 + 27736046 27750684 + 27826107 27841131 + 6480464 15489334;14702039;12477932;11454705;21906983 139422 Q96LZ2 ABBA01072674;ABBA01072675;ABBA01072676;AC107613;AC112492;AF333708;AK057527;AMYH01022176;AMYH01022177;BC101307;BC101308;BC101309;BC101310;CH471074;HC044787;NG_017094;NM_182506 AAI01308;AAI01309;AAI01310;AAI01311;AAK00360;BAB71522;CBH30723;EAW99040;NP_872312;Q96LZ2 Hs.447363 1702058;1757627;2156425;5037552 D8S2279;DXS1094;RH48603;SHGC-145528 FLJ32965;MGC120394 MAGE family testis and tumor-specific protein;MAGE-B10 antigen;OTTHUMP00000043236;melanoma-associated antigen B10 APPROVED protein-coding ENSG00000177689 25377 06554 300761 REVIEWED 1605545 MAGEB18 melanoma antigen family B, 18 X X X p21.3 30283735 30286128 + 26066381 26068773 + 26156460 26158853 + 6480464 16189514;19060904;16713569;15489334;14702039;12477932;20932654;20864041 286514 Q96M61 ABBA01072501;AC129850;AK057361;AMYH01022169;BC029525;CH471074;HC044853;NG_016370;NM_173699 AAH29525;BAB71450;CBH30756;EAW99033;NP_775970;Q96M61 Hs.350683 MGC33889 MAGE-B18 antigen;OTTHUMP00000023091;melanoma-associated antigen B18 protein-coding ENSG00000176774 28515 06647 VALIDATED 1353042 MAGEB3 melanoma antigen family B, 3 This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. [provided by RefSeq, Jul 2008] X X X p21.3 34370173 34377229 + 30158474 30165528 + 30248553 30255610 + 6480464 15772651;15489334;14702039;12477932;10861452;9441743;17207965 4114 O15480 AA934059;ABBA01072921;AC005185;AK057441;AMYH01022191;BC069784;BC074756;BC126320;BC126322;HC044729;NG_015869;NM_002365;U93163 AAC23618;AAD10636;AAH69784;AAH74756;AAI26321;AAI26323;ADQ31977;ADR82935;BAG51914;CBH30694;NP_002356;O15480 Hs.113290 1703084;5492657;5493709 DXS1098;UniSTS:481898;UniSTS:490448 CT3.5 MAGE-B3 antigen;OTTHUMP00000023099;cancer/testis antigen family 3, member 5;melanoma-associated antigen B3 APPROVED protein-coding ENSG00000198798 6810 02149 300152 REVIEWED 1350701 MAGEB2 melanoma antigen family B, 2 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008] X X X p21.3 34355297 34359830 + 30143601 30148127 + 30233675 30238206 + 6480464 17353931;17012225;15772651;15489334;12477932;12018852;9538511;9441743;8535061;8125298;17207965;20864041;21139048;21906983;21907836;17361185;23029077 4113 AAB50665;O15479;Q53G50 ABBA01072920;ABBA01072921;AC005185;AF015766;AK223081;AK313347;AMYH01022191;BC026071;CH471074;NG_013246;NM_002364;U93163 AAB50665;AAC23617;AAD01565;AAD10635;AAH26071;ABW03680;ADQ31880;BAD96801;BAG36150;EAW99047;NP_002355;O15479 Hs.113824 1787266;2108233;7184041 DXS1020;MAGEB2_8457;SHGC-144093 CT3.2;DAM6;MAGE-XP-2;MGC26438 DSS-AHC critical interval MAGE superfamily 6;DSS/AHC critical interval MAGE superfamily 6;MAGE XP-2 antigen;MAGE-B2 antigen;OTTHUMP00000023098;cancer/testis antigen 3.2;cancer/testis antigen family 3, member 2;melanoma-associated antigen B2 APPROVED protein-coding ENSG00000099399 6809 02109 300098 REVIEWED 1346783 MAGEB4 melanoma antigen family B, 4 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. [provided by RefSeq, Jul 2008] X X X p21.3 34381677 34383930 + 30170090 30172231 + 30260057 30262310 + 6480464 16189514;15772651;15489334;12477932;9441743;16344560;21906983 4115 O15481 ABBA01072922;AC005185;AK313769;AMYH01022191;BC032852;CH471074;CR541779;DB056993;NG_015870;NG_016336;NM_002367;U93163 AAC23619;AAD10637;AAH32852;ABM82162;ABM85347;BAG36507;CAG46578;EAW99050;NP_002358;O15481 Hs.113291 2107305 MAGEB4__7357 CT3.6;MGC33144 MAGE-B4 antigen;OTTHUMP00000023100;cancer/testis antigen family 3, member 6;melanoma-associated antigen B4 APPROVED protein-coding ENSG00000120289 6811 02150 300153 REVIEWED 1347095 MAGEC1 melanoma antigen family C, 1 This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [provided by RefSeq, Jul 2008] X X q26 140819346 140824849 + 140991642 140997187 + 6480464 18029348;17137291;18237105;17607369;15772651;12477932;12115486;11872084;9618514;9485030;20621094;20696919;20862285;16344560;20108890;23000965;23529156;21822266;20015885;21738656;21810217;21906983;22110734;23180015 9947 A0PK03;O60732;Q5JZC0 ABBA01066226;AF056334;AF064589;AL022152;AL023279;AMYH01023117;BC025969;BC127771;BC153867;BQ772869;CH471170;DB065460;NG_015871;NM_005462;XM_003846772 AAC18837;AAC24227;AAI27772;EAW78010;NP_005453;O60732;XP_003846820 Hs.132194 1796272;2110505 MAGEC1_1817;MAGEC3__7360 CT7;CT7.1;MAGE-C1;MGC39366 MAGE-C1 antigen;OTTHUMP00000024183;cancer/testis antigen 7.1;cancer/testis antigen family 7, member 1;melanoma-associated antigen C1 APPROVED protein-coding ENSG00000155495 6812 02201 300223 REVIEWED 1603580 MAGEC3 melanoma antigen family C, 3 This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q27.2 141213897 141273414 + 140753768 140813284 + 140926102 140985618 + 15772651;12477932;10861452 139081 E7EU92;Q3SYA6;Q8TD91 ABBA01066217;ABBA01066218;ABBA01066219;ABBA01066220;ABBA01066221;ABBA01066222;ABBA01066223;AF333706;AF333707;AF490508;AL022152;AL023279;AL049177;AMYH01023117;BC103893;BC103894;CH471170;NG_013272;NM_138702;NM_177456 AAI03894;AAI03895;AAK00358;AAK00359;AAM08355;EAW78008;EAW78009;NP_619647;NP_803251;Q8TD91 Hs.356870 1788000;2110505;5493095 G67199;MAGEC3__7360;UniSTS:484189 CT7.2;HCA2;MAGE-C3;MAGEC4;MGC119270;MGC119271 MAGE family testis and tumor-specific protein;MAGE-C3 antigen;OTTHUMP00000024185;OTTHUMP00000204090;cancer/testis antigen 7.2;cancer/testis antigen family 7, member 2;hepatocellular carcinoma-associated antigen 2;hepatocellular carcinoma-associated protein HCA2;melanoma-associated antigen C3 APPROVED protein-coding ENSG00000165509 23798 06629 300469 REVIEWED 1348631 MAGEB6 melanoma antigen family B, 6 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [provided by RefSeq, Jul 2008] X X X p21.3 30337984 30341189 + 26120478 26123684 + 26210557 26213763 + 12477932;10861452;15489334;14702039;17207965 158809 Q8N7X4 ABBA01072508;AC005297;AF320514;AK097561;AMYH01022169;BC067286;BC074920;CH471074;HC044777;NG_013247;NM_173523 AAG48624;AAH67286;AAH74920;ADQ31954;BAC05102;CBH30718;EAW99034;NP_775794;Q8N7X4 Hs.376011 5492745 UniSTS:482173 CT3.4;FLJ40242;MAGE-B6;MAGEB6A MAGE-B6 antigen;OTTHUMP00000023093;cancer/testis antigen 3.4;cancer/testis antigen family 3, member 4;melanoma-associated antigen B6 APPROVED protein-coding ENSG00000176746 23796 06628 300467 REVIEWED 1351080 MAGEC2 melanoma antigen family C, 2 This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009] X X q27 141117796 141120742 - 141290128 141293076 - 1580863;6480464 12920247;18942708;17495964;17096150;15772651;15489334;15061963;14999777;12477932;12097419;11602350;11406556;10861452;10699956;22808956;23180015;15342556;20621094;20862285;21595801;21780320;21738656;21876767;21754986;20864041;19380743;22925930;21277283;21364888;23096706 51438 Q6IAI7;Q9UBF1 ABBA01066252;ABBA01066253;AF116194;AF116195;AF151378;AF196482;AF196483;AF239802;AK313591;AL031073;AMYH01023119;BC005891;BC013318;BM548987;BP370466;CH471170;CR457168;NG_015872;NM_016249 AAF07210;AAF07211;AAF34816;AAF34817;AAF36533;AAH05891;AAH13318;AAK15073;ABM83868;ABM87190;BAG36358;CAG33449;EAW78014;EAW78015;EAW78016;NP_057333;Q9UBF1 Hs.123536 1675591 RH99306 CT10;HCA587;MAGEE1;MGC13377 MAGE-C2 antigen;MAGE-E1 antigen;OTTHUMP00000024186;cancer/testis antigen 10;hepatocellular cancer antigen 587;hepatocellular carcinoma-associated antigen 587;melanoma antigen, family E, 1, cancer/testis specific;melanoma-associated antigen C2 APPROVED protein-coding ENSG00000046774 13574 06632 300468 REVIEWED 1604588 MAGED4 melanoma antigen family D, 4 X X p11.22 51944659 51952104 + 51928008 51935364 + 6480464 11406556;11181995;22544753;16196087;11602350;12477932;16225959;22505724;22797925 728239 Q9H217 AB040527;AB040528;AB040529;AB058762;ABBA01059939;AC245177;AF320908;AF329733;AK094541;AK098830;AK289458;AK308365;AL136582;AL928717;AMYH01022351;BC001207;BC063838;BC081566;CH471230;NM_001098800;NM_001272061;NM_001272062;NM_001272063 AAG38604;AAH01207;AAH63838;AAH81566;AAL50032;BAB33378;BAB33379;BAB33380;BAB47488;BAF82147;CAB66517;EAW62886;EAW62887;EAW62889;EAW62890;EAW62891;EAW62892;EAW62893;NP_001092270;NP_001258990;NP_001258991;NP_001258992;Q96JG8 Hs.522650;Hs.571729;Hs.733143 1853335 WI-15363 FLJ39060;KIAA1859;MAGE-E1;MAGE1;MAGED4B;MAGEE1;MGC3210 MAGE-D4 antigen;MAGE-E1 antigen;OTTHUMP00000039224;melanoma antigen family D, 4;melanoma-associated antigen D4 protein-coding ENSG00000154545 23793 300702 VALIDATED 736331 MAGED1 melanoma antigen family D, 1 This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X p11.23 51562895 51662190 + 51546155 51645450 + 6480464;6907045 15930293;17488777;17453828;17353931;17149546;17140727;16713569;16388736;16125672;15772651;15489334;15162511;15094062;12754255;12598531;12477932;12204258;12023963;11959851;11546791;11313144;11280991;11087672;11084035;10985348;10409427;12716928;16169070;21145461;22544753;12376548;12787561;19639218;20100315;20237496;21109781;23314527;23455922;16196087;17558393;20864041;21726808;18457437;20868560;21903422;18985028;21988832;22190034;22935435;23000965;20972266;21139048;21890473;21906983;22053931;22505724;22797925 9500 B4DQ04;Q9Y5V3 ABBA01059953;ABBA01059954;ABBA01059955;ABBA01059956;ABBA01059957;ABBA01059958;ABBA01059959;ABBA01059960;ABBA01059961;ABBA01059962;ABBA01059963;ABBA01059964;ABBA01059965;ABBA01059966;ABBA01059967;AC241520;AF124440;AF132205;AF217963;AF258554;AF300328;AK074092;AK298574;AK308706;AK314053;AL133628;AL929101;AL929410;AMYH01022344;BC014070;BC032473;BF529661;BG819042;BX422007;CD387872;CH471230;NG_012559;NM_001005332;NM_001005333;NM_006986 AAD31421;AAG09704;AAG23757;AAG35551;AAH14070;AAH32473;AAQ14483;BAB84918;BAG60766;CAB63752;EAW62896;EAW62897;NP_001005332;NP_001005333;NP_008917;Q9Y5V3 Hs.5258 1702496;1702550;1717239;1754629;2139061;2160071;5015861;5016596;5022425;5037552;7185938 D10S16;D22S296;D8S2279;DXS1381;DXS1401;DXS7718;GDB:631802;RH122034;SHGC-132977;SHGC-58265 DLXIN-1;NRAGE MAGE tumor antigen CCF;MAGE-D1 antigen;OTTHUMP00000023302;OTTHUMP00000023303;OTTHUMP00000023304;OTTHUMP00000023305;melanoma antigen, family d, 1;melanoma-associated antigen D1;neurotrophin receptor-interacting MAGE homolog APPROVED protein-coding ENSG00000179222 6813 02202 300224 REVIEWED 734427 MAGED2 melanoma antigen family D, 2 This gene is a member of the MAGED gene family. While the MAGEA and MAGEB genes are silent in normal tissues with the exception of testis and placenta, the MAGED genes are expressed ubiquitously. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). Multiple alternatively spliced transcript variants have been found for this gene, however, the full length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] X X X p11.2 58666731 58675005 + 54850896 54859170 + 54834171 54842445 + 6480464 12477932;18095154;17912449;17081983;15772651;15489334;15465002;15302935;15162511;14702039;11856887;10752678;10463614;21145461;16169070;17643375;20237496;20562859;22791814;22939629;22863883;16196087;18781797;21726808;21987572;21139048;21890473;21906983;22053931;22505724;22797925 10916 H7BXW3;Q5H907;Q5H909;Q9UNF1 ABBA01069585;ABBA01069586;ABBA01069587;AF126181;AF128527;AF128528;AF148815;AF320907;AJ293618;AK091003;AK092463;AK098645;AK297910;AK301599;AK301821;AMYH01022432;BC000304;BC091503;BM043994;BM803170;BQ423605;BX647995;CH471154;NG_012844;NM_014599;NM_177433;NM_201222;U92544;Z98046 AAD00728;AAD28598;AAD33392;AAD33393;AAF73137;AAG38603;AAH00304;AAH91503;ABM82338;ABM85513;ABM87819;BAC03896;BAG60229;BAG63087;BAG63267;CAC19410;EAW93189;EAW93190;EAW93191;EAW93192;EAW93193;EAW93194;EAW93195;EAW93196;EAW93197;EAW93198;NP_055414;NP_803182;NP_957516;Q9UNF1 Hs.522665 1682181;1739491;1772413;1776554;2117278 DXS7159;DXS7547;RH64607;RH68550;RH77912 11B6;BCG1;HCA10;JCL-1;MAGE-D2;MAGED;MGC8386 BCG-1;MAGE-D2 antigen;OTTHUMP00000023381;OTTHUMP00000023382;OTTHUMP00000023383;OTTHUMP00000023384;breast cancer associated gene 1;breast cancer-associated gene 1 protein;hepatocellular carcinoma associated protein;hepatocellular carcinoma-associated protein HCA10;hepatocellular carcinoma-associated protein JCL-1;melanoma antigen, family d, 2;melanoma-associated antigen D2 APPROVED protein-coding ENSG00000102316 16353 06630 300470 REVIEWED 1349261 MAGEE1 melanoma antigen family E, 1 This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to mental retardation. [provided by RefSeq, Mar 2010] X X X q13.3 75927786 75931486 + 75564521 75568148 + 75648046 75651746 + 1580863;6480464 14623885;18029348;16713569;15489334;12477932;10997877;20862285;16344560;20864041;21139048;22632162 57692 Q5JXC7;Q9HCI5 AB046807;ABBA01059333;AF320909;AF490507;AK291270;AL096827;AL590789;AMYH01022625;BC050588;CH471104;DA411859;NG_016774;NM_020932 AAG38605;AAH50588;AAM08354;BAB13413;BAF83959;CAI42970;EAW98620;NP_065983;Q9HCI5 Hs.8453 2178556;2220292 AB060256;DXS9755 DAMAGE;HCA1;KIAA1587 MAGE-E1 antigen;OTTHUMP00000023588;alpha-dystrobrevin-associated MAGE Protein;dystrobrevin-associated MAGE protein;hepatocellular carcinoma-associated HCA1;hepatocellular carcinoma-associated protein 1;melanoma-associated antigen E1 APPROVED protein-coding ENSG00000198934 24934 06583 300759 REVIEWED 6481334 MAGI1-AS1 MAGI1 antisense RNA 1 3 65879491 65910972 + 100873983 ABBA01024299;AC025589;AMYH01013252;BX089101;NR_046575 Hs.663889 APPROVED miscrna ENSG00000240175 40091 VALIDATED 1626386 MAGED4B melanoma antigen family D, 4B This gene is a member of the MAGED gene family. It is expressed only in brain and ovary, and some transcript variants of this gene are specifically expressed in glioma cells. This gene is clustered with other MAGED genes on chromosome Xp11. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] X X X p11 55915943 55923388 + 51821663 51829108 - 51804923 51812368 - 6480464 16225959;15489334;14702039;12477932;12168954;11602350;11406556;11347906;11230166;16169070;19615732;21364888;21906983;20864041;21900206;21618523;22459352;22505724 81557 D6RBW3;D6RIH4;H0Y8Z3;H0Y937;Q9H217 AB040527;AB040528;AB040529;AB056059;AB058762;AC239585;AF320908;AF329733;AK094541;AK098830;AK289458;AK308365;AL136582;BC001207;BC063838;BC081566;BX537154;CH471230;NG_029896;NM_001242362;NM_030801;NM_177535;NM_177537 AAG38604;AAH01207;AAH63838;AAH81566;AAL50032;BAB33378;BAB33379;BAB33380;BAB47488;BAB61778;BAB61779;BAB61780;BAF82147;CAB66517;CAI41307;EAW62885;EAW62888;EAW62894;NP_001229291;NP_110428;NP_803879;NP_803881;Q96JG8 Hs.522650;Hs.571729;Hs.733143 1853335 WI-15363 KIAA1859;MGC3210;MGC88639 MAGE-D4 antigen;MAGE-E1 antigen;OTTHUMP00000023307;OTTHUMP00000217090;OTTHUMP00000217091;OTTHUMP00000217094;melanoma-associated antigen D4 APPROVED protein-coding ENSG00000187243 22880 06631 300765 REVIEWED 6481362 MAGI2-AS1 MAGI2 antisense RNA 1 100874020 AC008071 APPROVED miscrna 40860 6481365 MAGI2-AS2 MAGI2 antisense RNA 2 7 78638304 78641593 + 100874021 AACC02000015;ABBA01058030;AC006324;AMYH01017637;BX102296;CH236949;NR_046689 Hs.128252 APPROVED miscrna ENSG00000226978 40861 PREDICTED 1346034 MAGEE2 melanoma antigen family E, 2 This gene encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011] X X X q13.3 75286151 75288407 - 74919548 74921796 - 75002823 75005079 - 15772651;15489334;14702039;12477932;11454705;16344560 139599 Q8TD90 ABBA01059408;AF490509;AK094624;AL391495;AMYH01022619;BC093964;BC111949;CH471104;DA793762;NG_021324;NM_138703 AAH93964;AAI11950;AAM08356;BAC04387;EAW98625;NP_619648;Q8TD90 Hs.356869 1658267 SHGC-36373 HCA3;MGC138154 MAGE-E2 antigen;OTTHUMP00000023584;hepatocellular carcinoma-associated protein 3;hepatocellular carcinoma-associated protein HCA3;melanoma-associated antigen E2 APPROVED protein-coding ENSG00000186675 24935 06585 300760 REVIEWED 1348798 MAGEF1 melanoma antigen family F, 1 This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008] 3 3 3 q13 182876192 182877873 - 185910849 185912530 - 184428155 184429836 - 6480464 15489334;12477932;11454705;11313144;17207965;20800603;20864041;21139048;21906983;22797925 64110 Q9HAY2 ABBA01058434;AC107294;AF295378;AF320910;AMYH01013724;BC010056;BQ058163;BQ070043;CH471052;NM_022149 AAG30208;AAG38606;AAH10056;ADQ32642;EAW78235;NP_071432;Q9HAY2 Hs.306123 2112590;2119938;2191509 A006Q20;D3S4356;MARC_24277-24278:1030041558:1 MGC19617 MAGE-F1 antigen;OTTHUMP00000210456;melanoma-associated antigen F1 APPROVED protein-coding ENSG00000177383 29639 14348 609267 REVIEWED 5144473 MAGI2-AS3 MAGI2 antisense RNA 3 7 7 73784287 73794034 + 79082273 79100524 + 14702039;15146197;16344560;18487259;19416867 100505881 AACC02000015;AB371456;ABBA01058033;AC004945;AK021837;AK311103;AL833456;AMYH01017641;BI521274;BI868593;BQ008953;BX641113;CH236949;CN311982;CR749529;DA758742;GD146486;NR_038343;NR_038344;NR_038345;NR_038346 Hs.31474 1661950;1689564;1773816;1857720;2185458;5015861;5015881;5024039;5024761;5109663;7185938 D10S16;D16S325;D7S2067E;GDB:335751;HUM000S144;RH36905;RH46565;RH47667;RH66151;SHGC-32490 DKFZp686F08110 APPROVED miscrna ENSG00000234456 40862 VALIDATED 1349577 MAGEH1 melanoma antigen family H, 1 This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [provided by RefSeq, Aug 2013] X X X p11.21 59313626 59315087 + 55495263 55496724 + 55478538 55479999 + 729117;1580863;6480464 12414813 16574066;10948432;16189514;15772651;15489334;15383276;12477932;11454705;16169070;18759029;21832049;15694019;20088962;21364888;21988832;23000965;21906983;21418516 28986 Q9H213 AA634056;ABBA01069526;AF143235;AF320912;AI191172;AK313527;AL590410;AMYH01022437;BC011954;BI916425;CH471154;CS185548;NG_013248;NM_014061 AAD31314;AAG38608;AAH11954;ABM85572;BAG36306;CAJ42729;EAW93221;EAW93222;NP_054780;Q9H213 Hs.279819 1857435;2133834;2136951;5106108 DXS8146;MAGEH1;STS-N25539;WI-19776 APR-1;APR1;MAGEH MAGE-H1 antigen;OTTHUMP00000023401;apoptosis-related protein 1;melanoma antigen, family H, 1 protein;melanoma-associated antigen H1;restin APPROVED protein-coding ENSG00000187601 24092 06633 300548 REVIEWED 2292057 MAGOH2 mago-nashi homolog 2 (pseudogene) 17 10619260 10619899 - 100506898 ABBA01054979;AC002347;AMYH01008107;AW371909;AY672100;NR_049723 Hs.674373 mago-nashi homolog 2, proliferation-associated (Drosophila) APPROVED pseudo 30148 VALIDATED 1320098 MAGEL2 MAGE-like 2 Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010] 15 15 15 q11-q12 2049600 2053898 - 21439789 21442268 - 23888696 23892993 - 6480464 12477932;10915770;10556298;20467835;20301505;20864041;21139048;23452853 54551 H0YDD5;Q9UJ55 ABBA01048681;AC124309;AF200625;AJ243531;AMYH01006477;BC035839;BC063834;BC112257;BC112259;CH471151;NG_016776;NM_019066 AAG28577;AAH35839;AAH63834;AAI12258;AAI12260;AAI67825;CAB62393;EAW57609;NP_061939;Q9UJ55 Hs.141496 1796274 MAGEL2_358 NDNL1;nM15 MAGE-like protein 2;OTTHUMP00000236233;necdin-like protein 1;protein nM15 APPROVED protein-coding 6814 12008 605283 REVIEWED 1346623 MAGOH3P mago-nashi homolog 2, proliferation-associated (Drosophila), pseudogene 14 14 14 q24.1 49387173 49388245 + 68398093 68399363 + 69328440 69329510 + 12508121 90352 ABBA01023683;AL132986;AMYH01005821;NG_002581 MAGOHP;MAGOHP1 APPROVED pseudo 20020 INFERRED 1605836 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 1 1 1 p12-p11.2 112163278 112457777 + 113734998 114030068 + 113933475 114228545 + 6480464 18518978;16904289;16316992;15652357;15195140;14702039;12615970;12477932;12421765;12140759;11969287;10997877;10748157;19615732;20379614;21134377;23568457;23782696;19144635;19071123;21853274;16964398;23251661 260425 Q5TCQ9;Q9H8K0 AA992863;AB046854;ABBA01068454;ABBA01068455;ABBA01068456;ABBA01068457;AF213259;AK026417;AK311589;AL133517;AL365225;AL389921;AL390759;AL391058;AMYH01000959;AMYH01000960;AMYH01000961;AMYH01000962;AMYH01000963;BC130409;BC144144;CH471122;NM_001142782;NM_152900 AAG43837;AAI30410;BAB13460;BAB15479;EAW56559;EAW56560;EAW56561;EAW56562;EAW56563;NP_001136254;NP_690864;Q5TCQ9 Hs.486189 1658453;1672646;1680341;1684479;1684876;1692256;1693662;1697844;1791260;2135248;2164531;5092426 AL033791;G16325;G54309;MARC_9651-9652:996688495:1;RH102449;RH45978;RH48436;RH76599;RH98931;SHGC-58592;SHGC-75342;SHGC-75346 MAGI-3;MGC163281;RP4-730K3.1;dJ730K3.2 OTTHUMP00000013454;OTTHUMP00000013455;OTTHUMP00000013456;OTTHUMP00000013457;membrane-associated guanylate kinase inverted 3;membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3;membrane-associated guanylate kinase-related 3 protein-coding ENSG00000081026 29647 11290 VALIDATED 1322871 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 p14.1 65314946 65999549 - 65339906 66024509 - 1580863;6480464 9647739;18562638;18519826;17191119;16339077;16043488;16019084;15908431;15317815;14702039;14627983;12477932;12042308;11969287;11274227;9647693;9395497;9225980;9169421;11350080;10772923;17353931;15778465;15509766;20936779;21070662;12097473;12773569;16169070;16217014;16316992;20379614;20562105;21123374;21238461;21489588;16464232;19586902;19071123;21139048;23534349;23782696;21942217;21685691;22381734;11168587;23382691;22911767;22718816 9223 H7C4S7;H7C4U7;H7C535;H7C5T8;Q96QZ7 AB010894;ABBA01024298;ABBA01024299;ABBA01024300;ABBA01024301;ABBA01024302;AC025589;AC099058;AC104438;AC106827;AC112516;AC121493;AC133438;AC145425;AF088016;AF401654;AF401655;AF401656;AK023358;AK124433;AK127518;AK130632;AK289803;AK307794;AK310365;AL050184;AMYH01013250;AMYH01013251;AMYH01013252;AMYH01013253;BC062367;CH471055;NG_029778;NM_001033057;NM_004742;NM_015520;U80754;U96115 AAC04844;AAC51326;AAI67863;AAK94064;AAK94065;AAK94066;BAA32002;BAF82492;EAW65439;EAW65440;EAW65441;EAW65442;EAW65443;EAW65444;EAW65445;NP_001028229;NP_004733;NP_056335;Q96QZ7 Hs.476636 1648411;1655981;1660054;1666568;1672947;1673799;1704568;1706134;1715477;1718799;1728625;1740237;1760349;1762363;1763747;1766365;1772794;1774523;1784192;1784572;2112676;2112744;2114378;2120869;2122893;2132668;2135965;2139958;2151101;2156563;2159503;2218292;5093802 A009X02;AFMA303ZF9;BAIAP1_4428;D3S1720;D3S2413;D3S3902;D3S4397;D3S4439;G32932;G63604;GDB:313465;RH120905;RH123103;RH17837;RH45407;RH68778;RH78728;SGC30284;SGC38291;SHGC-106950;SHGC-13632;SHGC-141924;SHGC-14443;SHGC-146194;SHGC-147419;SHGC-149703;SHGC-155346;SHGC-58161;SHGC-77041;SHGC-80108;SHGC-83091;WI-15222;WI-18488 AIP-3;AIP3;BAIAP1;BAP-1;BAP1;MAGI-1;TNRC19;WWP3 AIP-3;BAI1-associated protein 1;BAP-1;OTTHUMP00000212270;OTTHUMP00000212271;OTTHUMP00000212272;OTTHUMP00000212273;OTTHUMP00000212274;OTTHUMP00000212275;OTTHUMP00000222428;WW domain-containing protein 3;atrophin-1 interacting protein 3;atrophin-1-interacting protein 3;membrane associated guanylate kinase inverted-1;membrane-associated guanylate kinase inverted 1;membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1;trinucleotide repeat-containing gene 19 protein APPROVED protein-coding ENSG00000151276 946 04020 602625 REVIEWED 1605344 MAGIX MAGI family member, X-linked X X X p11.23 52640533 52645188 - 48906125 48910780 + 49019181 49023836 + 6480464 16344560;14702039;12477932 79917 C9J123;F8WCY7;H7C2H1;H7C3G4;H7C496;Q9H6Y5 ABBA01046129;ABBA01046130;AC231657;AF196779;AI369342;AK025340;AK094251;AK096058;AMYH01022293;BC027995;BC067800;BC114943;CH471224;DA072017;DQ884401;NM_001099680;NM_001099681;NM_001099682;NM_024859 ABI63368;BAB15115;EAW50691;EAW50692;EAW50693;NP_001093150;NP_001093151;NP_001093152;NP_079135;Q9H6Y5 Hs.193170 1853502;2146871;2174500;5015619 D11S3114;RH70282;RH77979;SHGC-57082 FLJ21687;JM10;MGC138889;PDZX OTTHUMP00000032420;OTTHUMP00000032421;OTTHUMP00000032422;OTTHUMP00000032423;OTTHUMP00000032424;OTTHUMP00000032425;OTTHUMP00000226738;PDZ domain containing protein;PDZ domain containing, X chromosome;PDZ domain-containing protein MAGIX protein-coding 30006 06538 VALIDATED 735850 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] 7 7 q21 77484310 78920826 - 77646374 79082890 - 6480464 10760291;9647693;19240061;19086053;18720471;17989107;17880912;15652357;15122254;12853948;12690205;12589829;12477932;12421765;11826105;11707428;11526121;10681527;10080919;9847074;9734811;15451561;19913121;20628086;20668459;10548487;14529612;16316992;17353931;19668339;19948740;20096742;20101691;20379614;20966902;21515326;18565486;22041458;22381734;22649501;23007406;23236378;23251661 9863 E7EWI0;F5GWH1;F5GWK7;Q9UDU1 AA448362;AACC02000015;AB014605;ABBA01058021;ABBA01058022;ABBA01058023;ABBA01058024;ABBA01058025;ABBA01058026;ABBA01058027;ABBA01058028;ABBA01058029;ABBA01058030;ABBA01058031;ABBA01058032;ABBA01058033;AC004547;AC004808;AC004945;AC004990;AC005246;AC006043;AC006324;AC006355;AC007237;AC007361;AC008071;AC073092;AC073200;AC074024;AF038563;AK297353;AK297580;AK298988;AK308685;AK309012;AMYH01017631;AMYH01017632;AMYH01017633;AMYH01017634;AMYH01017635;AMYH01017636;AMYH01017637;AMYH01017638;AMYH01017639;AMYH01017640;AMYH01017641;BC150277;CH236949;CH471091;NG_011487;NM_012301 AAC05370;AAC23438;AAC25530;AAC61488;AAC79151;AAD15413;AAF66080;AAI50278;AAP21886;AAP22360;BAA31680;BAH12560;BAH12619;BAH12916;EAL24194;EAW77021;EAW77022;EAW77023;EAW77024;EAW77025;NP_036433;Q86UL8 Hs.603842 1299970;1334763;1335195;1335509;1336457;1644508;1645528;1647457;1651347;1651752;1669862;1670656;1674622;1704780;1705320;1705612;1706086;1707158;1707810;1710276;1710380;1710776;1714645;1715387;1725249;1735674;1754365;1768823;1773623;1851009;1853329;1853492;1857301;2114242;2116299;2121828;2121855;2124410;2128748;2135410;2135923;2136063;2136162;2139657;2141640;2141902;2142514;2160081;2161664;2167313;2186363;2218204;5017537;5023069;5093844;7184000;7186484 A009X37;AFM312xb5;AFMb281wd5;AIP1__4270;CHLC.GATA8G02;D7S1446;D7S1859;D7S1885;D7S1950;D7S2135E;D7S2204;D7S2421;D7S2517;D7S2526;D7S2815;D7S669;G17119;G17176;G32958;GDB:1317594;GDB:1317710;GDB:1317832;GDB:1317838;GDB:1317842;GDB:1317844;GDB:1317846;GDB:1317902;GDB:1318088;GDB:1318152;GDB:1318164;GDB:1318491;GDB:4585245;MAGI2;RH118918;RH119987;RH120526;SGC30594;SHGC-132385;SHGC-31005;SHGC-31136;SHGC-53900;SHGC-60231;SHGC-60232;SHGC-79835;SHGC-79837;SHGC-80080;SHGC-81349;SHGC-82131;SHGC-82461;SHGC-83003;SHGC-84053;SHGC-85234;WI-18076;WI-22277;ha2177 ACVRIP1;AIP-1;AIP1;ARIP1;MAGI-2;SSCAM AIP-1;OTTHUMP00000161290;OTTHUMP00000208077;OTTHUMP00000208078;activin receptor interacting protein 1;atrophin 1 interacting protein 1;atrophin-1 interacting protein A;atrophin-1-interacting protein 1;atrophin-1-interacting protein A;membrane-associated guanylate kinase inverted 2;membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 APPROVED protein-coding ENSG00000187391 18957 16212 606382 REVIEWED 1313047 MAGOH mago-nashi homolog, proliferation-associated (Drosophila) Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008] 1 1 p32.3 53465152 53476795 - 53692564 53704282 - 6480464;6907045 9272960;18026120;19410547;12226669;19254694;17353931;16931718;16710414;16209946;16170325;15489334;15324660;14973490;14730019;12781131;12730685;12477932;11991638;11707413;11696323;11447110;11042152;10662555;9479507;16014633;16601204;23084401;16923391;19417104;21139048;21906983;22318606;17333237;22505724 4116 B1ARP8;P61326 ABBA01074742;ABBA01074743;AF035940;AF067173;AF086246;AK297895;AK312113;AL606760;AMYH01000627;BC018211;BX283982;CH471059;NM_002370 AAC39606;AAD32457;AAH18211;ABM82215;ABM85399;BAG35049;BAG60216;EAX06747;EAX06748;NP_002361;P61326 Hs.421576 1680988;2163585;2174214 RH66217;RH91960;SHGC-74847 MAGOH1;MAGOHA OTTHUMP00000010485;OTTHUMP00000010486;protein mago nashi homolog APPROVED protein-coding ENSG00000162385 6815 04005 602603 REVIEWED 733464 MAK male germ cell-associated kinase The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. There is, however, a study of the mouse homolog that has identified high levels of expression in developing sensory epithelia so its function may be more generalized. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 6 6 6 p24 11991430 12059559 - 10870942 10939096 - 10762956 10838788 - 1580863;6480464 12084720;2183027;16954377;16951154;14702039;14574404;12477932;8359591;8321219;8188277;1473268;21835304;21988832;15342556;8889548;16344560;21825139;21697133;21832049;22110072;20301590;21986944 4117 B3KUS6;F8VBW7;P20794;Q8IXN4 AB593146;ABBA01022085;ABBA01022086;ABBA01022087;ABBA01022088;ABBA01022089;AF505623;AK097831;AK310329;AK314408;AL024498;AMYH01016079;AMYH01016080;BC033002;BC039825;BM704130;BM978645;BP246863;CH471087;DB082719;JN135248;JN226411;M35863;NG_030040;NM_001242385;NM_001242957;NM_005906 AAA36195;AAH39825;AAN16405;AEJ36294;AEL29206;BAG53538;BAJ84080;EAW55282;EAW55283;EAW55284;EAW55285;NP_001229314;NP_001229886;NP_005897;P20794 Hs.446125 1675501;1681115;1688518;1711392;1789226;2160421;5022322 D11S2560;G42180;G65611;RH16150;RH91826;RH94354;RH98702 RP62;dJ417M14.2 OTTHUMP00000016025;male germ cell-associated kinase retinal-enriched isoform;serine/threonine protein kinase MAK;serine/threonine-protein kinase MAK APPROVED protein-coding ENSG00000111837 6816 01101 154235;614181 REVIEWED 735676 MAL mal, T-cell differentiation protein The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012] 2 2 q11.1 95055206 95083462 + 95691400 95719737 + 1580863;1358761;6480464 15193296 9528996;10366425;3494249;10739088;12153479;10428054;8132541;9003426;19445022;19208741;19064572;19002170;18346269;17408629;17151798;16785208;15489334;15466889;15188492;12477932;12429796;10512878;9168919;8088843;3257199;20822478;12776198;19423540;19642140;20048342;20406964;20438785;20448286;20400509;21190187;19670627;21092172;21508261;21389098;21988832;23176198;22485159;17213182;23224601 4118 P21145 ABBA01003576;ABBA01003577;AC103563;AK311844;AMYH01010683;BC000458;BC003006;CH471219;CR541879;DT215613;HI178996;HI178998;HI179000;HI179002;M15800;NM_002371;NM_022438;NM_022439;NM_022440;X76220;X76221;X76222;X76223;X76678;X76679;X76680;X76681 AAA36196;AAH00458;AAH03006;AAY24121;BAG34786;CAA53809;CAA54100;CAA54101;CAA54102;CAA54103;CAG46677;CBX53807;CBX53808;CBX53809;CBX53810;EAX10705;EAX10706;EAX10707;EAX10708;EAX10709;EAX10710;NP_002362;NP_071883;NP_071884;NP_071885;P21145 Hs.80395 1647861;2124877;2170518;2217582;5120476 GDB:331320;MAL_3219;RH69079;SHGC-57042;WIAF-2545 OTTHUMP00000162859;OTTHUMP00000162860;OTTHUMP00000162861;OTTHUMP00000162862;T-cell differentiation protein MAL;T-lymphocyte maturation-associated protein;myelin and lymphocyte protein APPROVED protein-coding ENSG00000172005 6817 01789 188860 REVIEWED 731507 MAGT1 magnesium transporter 1 This gene encodes a magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause mental retardation X-linked type 95 (MRX95). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jan 2010] X X X q21.1 77322738 77391930 - 76968517 77037583 - 77081861 77151065 - 6480464;7240710 12887896;15835887;18455129;16303743;15804357;15489334;15164054;14702039;12975309;12477932;11483580;11230166;8125298;20301507;19717468;17207965;22939629;16196087;21627970;21139048;21890473;21906983;21987572;21983175;21963094;22190034 84061 Q6P577;Q9H0U3 ABBA01029592;ABBA01029593;ABBA01029594;ABBA01029595;ABBA01029596;ABBA01029597;ABBA01029598;ABBA01029599;ABBA01029600;ABBA01029601;ABBA01029602;ABBA01029603;ABBA01029604;ABBA01029605;AF130104;AK027632;AK075394;AK172735;AK223131;AK294943;AK296743;AK314309;AL136636;AL138743;AL356235;AMYH01022630;AY358691;BC018447;BC041014;BC050657;BC060842;BC063037;CH471104;DC329979;DQ000004;NG_016390;NM_032121 AAG35529;AAH41014;AAH60842;AAH63037;AAQ89054;AAY18811;ACE86560;ACE87242;ADQ33025;BAB55249;BAC11592;BAD96851;BAG36961;BAG58019;BAG59327;CAB66571;EAW98608;EAW98609;EAW98610;NP_115497;Q9H0U3 Hs.323562 2117212;2117214;2150564;2151543;2176238;5015404;5022576;5491491 A006B26;D1S1361;DXS7160;DXS7802;G20677;L17705;MARC_15757-15758:1017937100:1;WI-17398 DKFZp564K142;FLJ14726;IAP;MGC64926;MRX95;OST3B;PRO0756;RP11-217H1.1;XMEN;bA217H1.1 OTTHUMP00000023589;implantation-associated protein;magnesium transporter protein 1;oligosaccharyltransferase 3 homolog B APPROVED protein-coding ENSG00000102158 28880 06487 300715;300716;300853 REVIEWED 1602707 MAGOHB mago-nashi homolog B (Drosophila) 12 12 12 p13.2 15905150 15914533 - 10648061 10657450 - 10756364 10766208 - 6480464;6907045 16501559;16189514;15489334;15324660;14702039;12477932;21319273;20379614;22939629;21987572;21139048;21890473;21906983;21044950;21628590;22505724 55110 A6NEC0;F5H124;F5H3U9;F5H6N1;F5H6P7;Q96A72 ABBA01067806;AC021049;AF165518;AK001154;AK022720;AK096106;AMYH01004280;BC010905;BG533740;CD357202;CH471094;NM_018048 AAF86648;AAH10905;BAA91522;BAB14202;EAW96196;EAW96197;EAW96198;EAW96199;NP_060518;Q96A72 Hs.104650 1686730;2126879;2167713 RH44698;RH94106;SHGC-54535 FLJ10292;MGN2;mago;magoh OTTHUMP00000238720;OTTHUMP00000238722;mago-nashi homolog 2;protein mago nashi homolog 2 protein-coding 25504 08544 VALIDATED 1348409 MAL2 mal, T-cell differentiation protein 2 (gene/pseudogene) This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008] 8 8 q23 120289791 120327094 + 120220610 120257913 + 1580863;6480464 12963375;19175940;17145811;16620967;16445687;15489334;15466889;15168355;14729876;14702039;14576188;12477932;12370246;11549320;19668339;19683524;20846453;21573057;22321011;19322201 114569 Q969L2 ABBA01037813;AC087856;AK172820;AK312030;AL117612;AMYH01018986;AY007723;BC012367;CH471060;CV574204;GN341820;NM_052886 AAG15576;AAH12367;ABM84669;ABM92201;BAD18789;BAG34967;CAY39329;EAW91981;EAW91982;NP_443118;Q969L2 Hs.201083 1654561;1672680;1698338;1735842;1796276 D8S1437E;MAL2_906;RH102710;RH47269;SHGC-32002 MAL proteolipid protein 2;MAL2 proteolipid protein;protein MAL2 APPROVED protein-coding 13634 14351 609684 REVIEWED 1346754 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) 11 11 q13.1 65022410 65030999 + 65265233 65273940 + 6480464 19041754;17270048;16441420;12970751;12837690;12477932;10843802;9253601;22722759;19690017;20149803;20213048;20797886;20711585;23129630;21503572;22078878;22088988;21941126;22560368;22751105;23243023;21678027;23555285;22858678;23153939 378938 Q9UHZ2 ABBA01024115;AF001542;AF132202;AF203815;AJ535465;AK130345;AL050210;AMYH01003720;AP000769;BC018448;BC025986;BC063689;BK001411;BK001418;BX538238;BX640764;EF177381;NR_002819 Hs.621695;Hs.642877 1647614;1647616;1666695;1673265;1674412;1675305;1736168;1736180;1739791;1768565;1774399;1776765;1847820;2119293;2126655;2145448;2154585;2167557;2169253;2173495;2185168;5093562 1072;1192;A005V08;A009Q43;D11S1957E;D11S2256E;D11S2289E;D11S4055E;D11S4570;D11S951E;G20528;G32792;RH12529;RH17566;RH42001;RH67818;SGC30658;SGC35206;SHGC-31329;SHGC-35161;STS-T94789;WI-12191 HCN;LINC00047;MALAT-1;NCRNA00047;NEAT2;PRO2853 miscrna ENSG00000251562 29665 607924 PROVISIONAL 7246294 MAMDC2-AS1 MAMDC2 antisense RNA 1 100507244 ABBA01033820;AC212493;AK124126;AL392044;AMYH01021394;BC043510;NR_040076 BAC85782 Hs.556816 1648057 D9S1999 miscrna ENSG00000204706 48719 VALIDATED 1350635 MAK16 MAK16 homolog (S. cerevisiae) 8 8 8 p12 32292407 32308483 + 33462259 33478318 + 33342685 33358778 + 6480464 17081983;15635413;15489334;15342556;14702039;12477932;12429849;11790298;8125298;17207965;21139048;21890473;19322201;22586326 84549 H0YBV6;Q9BXY0 ABBA01023609;ABBA01023610;AC091144;AF251062;AK027469;AK225476;AK314491;AL049422;AMYH01018631;BC015965;BC028230;BC039740;BC050528;BP281245;CH471080;CS300754;NM_032509 AAH15965;AAH28230;AAH39740;AAH50528;AAK34952;ADQ33073;BAB55134;BAG37091;CAK32418;EAW63400;NP_115898;Q9BXY0 Hs.583805 1652276;1674174;2144186;5017857 27STS02;G29147;SHGC-32777;SHGC-5767 MAK16L;RBM13 NNP78;OTTHUMP00000225467;RNA binding motif protein 13;RNA binding protein;protein MAK16 homolog protein-coding ENSG00000198042 13703 15223 VALIDATED 1312980 MAMDC2 MAM domain containing 2 9 9 9 q21.12 43248875 43432272 + 71848340 72031708 + 72658497 72841888 + 737633;6480464 12477932 11256614;16381901;15489336;15489334;15164053;11076863;20379614 256691 Q7Z304 ABBA01033820;AC212493;AK304040;AK304531;AL158153;AL392044;AMYH01021394;BC015417;BC016383;BC040299;BC045569;BC063634;BX538309;CH471089;CS083249;NM_153267 AAH15417;AAH16383;AAH63634;BAG64951;BAG65332;CAD98089;CAI96011;CAL37645;EAW62493;EAW62494;EAW62495;EAW62496;EAW62497;NP_694999;Q7Z304 Hs.547172 1648057;1649861;1661241;1708416;1710510;1787084;2154431;2163636;5117184 D9S1077;D9S1999;GDB:451646;RH47183;SHGC-12216;SHGC-154936;SHGC-83496;SHGC-86281;STS-N33222 MGC21981 MAM domain containing 1;MAM domain-containing protein 2;MAM domain-containing proteoglycan;OTTHUMP00000021440;mamcan protein-coding ENSG00000165072 23673 14353 612879 VALIDATED 1604980 MAMDC4 MAM domain containing 4 9 9 9 q34.3 110260608 110269040 + 138866640 138875072 + 139746819 139755251 + 6480464 12975309;7829488;12477932 158056 Q6UXC1 ABBA01022726;AL137659;AL355987;AL834531;AMYH01021879;AY358419;BC144258;BC144259;BF339007;BQ270782;CH471090;NM_206920 AAI56097;AAI72486;AAQ88785;CAD39187;EAW88293;EAW88294;EAW88295;NP_996803;Q6UXC1 Hs.376780 2132405 STS-N90764 AEGP;DKFZp434M1411 MAM domain-containing protein 4;OTTHUMP00000022621;OTTHUMP00000162515;apical early endosomal glycoprotein;apical endosomal glycoprotein protein-coding ENSG00000177943 24083 12434 VALIDATED 1318517 MAML1 mastermind-like 1 (Drosophila) This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008] 5 5 q35 179092457 179136890 + 179159851 179204287 + 1580863;2302204;6480464;6484113;6907045 17761886 11101851;18155729;17875709;17317671;16530044;15546612;12644465;12477932;12391150;12386158;12050117;11585921;11390662;8724849;19913121;20628086;12370315;19751190;19838210;9874765;21124806;20203086;23022380;23029358;21640102;16510869;22006371;22325781;18029348;11997524;23365452;23454378;22249263;22100894;22864395;21820430 9794 Q92585 AA975821;AB209135;ABBA01010035;ABBA01010036;ABBA01010037;ABBA01010038;ABBA01010039;ABBA01010040;AC113426;AF221759;AK295139;AMYH01015957;AMYH01015958;BC047937;CH471165;D83785;NM_014757 AAF34658;BAA12114;BAD92372;BAH11986;EAW53801;NP_055572;Q92585 Hs.631951 1664020;1677616;1722767;2139625;2171534;2217584;5106337 D5S2383;G60322;MAML1_3517;RH25413;RH46179;SHGC-24426;STS-N25670 FLJ53540;KIAA0200;Mam-1;Mam1 OTTHUMP00000223437;mastermind homolog;mastermind-like protein 1 APPROVED protein-coding ENSG00000161021 13632 05665 605424 REVIEWED 1313593 MAML2 mastermind-like 2 (Drosophila) 11 11 q21 95351088 95715992 - 95711440 96076344 - 2302204;6480464;6484113;6907045 17761886 12370315;19531414;19269006;19240061;18206539;18050304;17551948;17437281;17334997;16818685;15961999;15729701;14720503;12539049;12477932;12386158;11347906;21658281;19176441;19521953;19749740;20379614;20588178;20625861;21074686;21119597;18029348;21777943;21668476;22833306;21988832;22582766;23128233;23192594;23322567;23456168;23035786 84441 Q1HA41;Q8IZL2 AB058722;ABBA01040006;ABBA01040007;ABBA01040008;ABBA01040009;AK308157;AMYH01003972;AMYH01003973;AP000779;AP000848;AP000870;AY040322;AY186997;BC143529;BC152449;CH471065;CR627398;NM_032427 AAI43530;AAI52450;AAK93831;AAP12462;BAB47448;CAH10491;EAW66975;NP_115803;Q8IZL2 Hs.745167 1335901;1336991;1669788;1673033;1678021;1687698;1696312;1698670;1700776;1704954;1716727;1718067;1731509;1733296;1737103;1737197;1737217;1756069;1758921;1771222;1848427;2114467;2122543;2133153;2138480;2147249;2151197;2151201;2157036;2167959;2179877 119XH4;A008T20;AFM238yh4;D11S1215;D11S1240;D11S1925;D11S2868;D11S3065;D11S3082;D11S4007;D11S4016;D11S4134;D11S4649;D11S919;G29142;L18075;RH102894;RH104013;RH121655;RH122651;RH47561;RH65520;RH78641;RH79787;RH99268;SHGC-142871;SHGC-151054;SHGC-77733;SHGC-77976;SHGC-899;WI-18444 DKFZp686N0150;KIAA1819;MAM-3;MAM2;MAM3;MGC176701;MLL-MAML2 OTTHUMP00000236424;OTTHUMP00000236425;mam-2;mastermind-like protein 2 protein-coding ENSG00000184384 16259 09608 607537 VALIDATED 1342796 MALL mal, T-cell differentiation protein-like This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008] 2 2 2 q13 104933285 104965980 + 110198736 110230937 - 110841447 110874143 - 6480464 11294831;18305945;16189514;15489334;14702039;12477932;9361039;9326933;9168137;7622049;1294831;16341674 7851 C9IZ55;F8WE57;Q13021 ABBA01015964;AC013268;AI911238;AK056616;AK125647;AK311353;AMYH01010912;AMYH01010913;AMYH01010914;AMYH01010915;BC003179;BM743962;CH878608;CS300695;NM_005434;U17077 AAA76738;AAH03179;ABM83796;ABM87117;BAG51765;BAG54228;CAK32359;EAW50639;NP_005425;Q13021 Hs.185055 1686052;1694484;2107891;2145460 BENE_8767;RH122303;RH79121;SHGC-62016 BENE;MGC4419 MAL-like protein;OTTHUMP00000161842 APPROVED protein-coding ENSG00000144063 6818 15997 602022 VALIDATED 1315834 MALSU1 mitochondrial assembly of ribosomal large subunit 1 7 7 7 p15.3 23325228 23335467 + 23305465 23315705 + 23338940 23349180 + 6480464 16730941;15489334;12690205;12477932;16548050;22939629;20186120;22238375;22238376;21890473;18029348;21963094;23171548 115416 Q96EH3 AACC02000007;ABBA01056703;ABBA01056704;AC005082;AK127742;AK316559;AMYH01017113;BC012331;CH236948;CH471073;NM_138446 AAH12331;BAG38148;BAG54562;EAL24258;EAW93785;NP_612455;Q96EH3 Hs.87385 1653097;1852290;2134493;2179519;2184353;5024563;5024638;5125156 D7S1891;D7S2309;D7S2395;RH18504;RH36584;RH65486;RH68002;RH77863 C7orf30;mtRsfA OTTHUMP00000158559;hypothetical protein LOC115416;mitochondrial assembly of ribosomal large subunit protein 1;protein C7orf30;uncharacterized protein C7orf30 APPROVED protein-coding 21721 12918 614624 VALIDATED 1319401 MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 18 18 q21 54489598 54568350 + 56338618 56417370 + 1599913;1599912;1580863;6480464;6484113;6907045 10523859;12560219 21283787;11090634;15125833;12761501;14695475;11096264;16123224;12819136;19394813;19279678;19234489;19112107;19060847;18806265;18691973;18625728;18367485;18231929;17948050;17894851;17199743;17145608;17101977;16891304;16804917;16630178;16395405;16395399;16341151;15982633;15696476;15598810;15489334;15363040;15191563;14760068;14702039;14562112;12931213;12651604;12477932;12406890;11960389;11707622;11262391;11162514;10702396;10626814;10610122;10406266;10339464;9110174;8619474;17353931;22689981;20695076;20804738;16874300;17047224;17135271;19444310;19494296;19841089;19897720;18029348;19965626;18223652;21273489;20079017;23264041;23322406;23358872;21448133;22366302;22574776;21055028;17189706;23455924;20551178;21873235;21139048;21906983;21833088;18931663;21513986;21966355;22309193;21757570;18212736;23416615;17363905;22323290;23238016;23238017 10892 K7EP42;Q9UDY8 AB026118;ABBA01056155;ABBA01056156;AC104365;AC104971;AF070528;AF130356;AF316597;AK024859;AK092004;AK291386;AL137399;AMYH01009026;BC030143;CH471096;NM_006785;NM_173844 AAD38507;AAG38589;AAH30143;ABM83245;ABM86447;BAA83099;BAF84075;CAB70725;EAW63078;EAW63079;NP_006776;NP_776216;Q9UDY8 Hs.601217 1677256;1681847;1707568;2165865;2217580 MALT1_3779;RH68024;RH79985;RH93611;SHGC-84595 DKFZp434L132;MLT;MLT1 MALT associated translocation;MALT lymphoma-associated translocation;MALT-lymphoma associated translocation;OTTHUMP00000163647;OTTHUMP00000163648;caspase-like protein;mucosa-associated lymphoid tissue lymphoma translocation protein 1;paracaspase APPROVED protein-coding ENSG00000172175 6819 06892 604860 REVIEWED 1317803 MAML3 mastermind-like 3 (Drosophila) 4 4 4 q28 137970363 138407341 - 140856995 141294683 - 140637545 141075233 - 1580863;2302204;6480464;6907045 17761886 12370315;9225980;16344560;14702039;12539049;12386158;11347906;12477932;20379614;20211142;23022380;18029348 55534 E7ESR8;E7EVW8;H0Y2R5;H0Y920;Q96JK9;Q9NPV6 AA236382;ABBA01069969;ABBA01069970;ABBA01069971;ABBA01069972;ABBA01069973;ABBA01069974;AC097464;AC104798;AC108053;AC131182;AK123604;AK296891;AL359614;AMYH01014571;AW136739;BC137130;BC137131;BX506733;CH471056;DA408716;DN999776;NM_018717;R15711 AAI37131;AAI37132;BAG53919;BAG59450;CAB94884;EAX05107;NP_061187;Q96JK9 Hs.586165 1339690;1340807;1655130;1660871;1670486;1671644;1673308;1675267;1697656;1697728;1705798;1715423;1715651;1751669;1755185;1764837;1772881;1784974;1847364;1848585;2127132;2132228;2142870;2142872;2147184;2167853;2182814;2185834;2217586;7184046;7190747;7190751 D4S1170;D4S1579;D4S2608;D4S3089;D4S3148;D4S3169;D4S397;D4S878;MAML3_3602;RH102343;RH102386;RH119271;RH120544;RH45816;RH66669;SHGC-105617;SHGC-112071;SHGC-142102;SHGC-148398;SHGC-50309;SHGC-51064;SHGC-53408;SHGC-59304;SHGC-59764;SHGC-67807;SHGC-67961;SHGC-67964;SHGC-78981;STS-N24579 CAGH3;ERDA3;GDN;MAM-2;MAM2;TNRC3 CAG repeat containing (glia-derived nexin I alpha);CAG repeat domain;OTTHUMP00000220228;OTTHUMP00000220229;expanded repeat domain, CAG/CTG 3;mam-3;mastermind-like protein 3;polyglutamine rich;trinucleotide repeat containing 3 protein-coding ENSG00000196782 16272 10066 608991 VALIDATED 1604486 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator 19 19 19 q13.33 46082348 46089068 - 53908065 53912026 - 49216255 49222976 - 6480464 16818234;14702039;12477932;21060863;20686565;21833088;21926972;23449627 284358 M0QXF1;M0QY28;Q6ZN01 ABBA01032971;AC008888;AK093389;AK131427;AMYH01009907;BC105056;BC105058;BC106047;BC143443;BX280379;CH471177;NM_001130915;NM_182574 AAI05057;AAI05059;AAI06048;AAI43444;BAC04152;BAD18574;EAW52390;EAW52391;EAW52392;NP_001124387;NP_872380;Q6ZN01 Hs.191815 2109739;2128034;2147841;2153122;2172742 A004F11;D19S1127;EST196348;RASIP1_9847;WI-16013 FLJ36070;MASTR;MGC117259 MEF2-activating SAP transcriptional regulator;MEF2-activating SAP transcriptional regulatory protein;MEF2-activating motif and SAP domain-containing transcriptional regulator;likely ortholog of MEF2-activating SAP transcriptional regulator protein-coding ENSG00000176909 26689 08204 610349 VALIDATED 1344424 MAMLD1 mastermind-like domain containing 1 This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] X X q28 149364378 149433104 + 149531551 149682448 + 6480464;7240710 19339788;18635673;18162467;17086185;16344560;14702039;12477932;9169146;8889548;8640223;17848411;8789451;20347055;22610502;22479329;22934520;23044878 10046 E7EPB9;F8WAK3;Q13495 ABBA01037104;ABBA01037105;ABBA01037106;ABBA01037107;ABBA01037108;ABBA01037109;ABBA01037110;ABBA01037111;ABBA01037112;ABBA01037113;ABBA01037114;ABBA01037115;ABBA01037116;ABBA01037117;ABBA01037118;ABBA01037119;ABBA01037120;ABBA01037121;AC109994;AC136957;AC235697;AC235953;AK094563;AK125184;AK294478;AK297504;AK302612;AK315217;AL034384;AMYH01023213;AW594465;BC136324;BU687638;BX537560;CH471169;DA106253;DA527328;DR001800;NG_017093;NM_001177465;NM_001177466;NM_005491;U46023 AAC50551;AAI36325;BAC86075;BAG37651;BAG57704;BAG59917;BAG63859;EAW99376;NP_001170936;NP_001170937;NP_005482;Q13495 Hs.20136 1339855;1684202;1702534;1702768;1703098;1740863;2171145;2181193;5095084;5095243 CXorf6;DXS10134_-_Allele_32.1;DXS1282;DXS1299;DXS462;DXS8069;DXS8377;RH80378;SHGC-13668;WI-11570 CG1;CXorf6;F18;HYSP2 OTTHUMP00000025851;OTTHUMP00000240704;mastermind-like domain-containing protein 1 APPROVED protein-coding ENSG00000013619 2568 02126 300120;300758 REVIEWED 1322054 MAN1A1 mannosidase, alpha, class 1A, member 1 This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012] 6 6 q22 119540965 119712625 - 119498366 119670931 - 1580863;6480464;6907045 3264072;8223597;15308636;19258393;18217416;17727818;14574404;12477932;10521544;10409699;9592125;9219526;7588811;12560567;11530211;9109416;8673525;2829950;2649653;2542563;2541446;2187500;8093218;3099781;1736542;8892864;8218172;2406237;2355006;2283726;10915796;20379614;21577142;16344560;18215327;18314154;18330979 4121 P33908;Q6P052 ABBA01026018;ABBA01026019;AK024588;AK025599;AK307383;AL022722;AL078600;AL138886;AMYH01016625;BC065827;BQ008013;CH471051;DA981556;NM_005907 AAH65827;EAW48185;EAW48186;EAW48187;NP_005898;P33908 Hs.102788;Hs.742378 1338670;1341107;1653158;1654182;1682359;1710024;1722511;1761157;2148454;2155652;2170639;2179131;7186419;7186537 D6S1696;D6S287;G60180;RH37584;RH46080;RH68575;RH68722;RH92665;SHGC-145161;SHGC-82286;STS-X74837;WI-7313 HUMM3;HUMM9;MAN9 Man9-mannosidase;OTTHUMP00000017107;alpha-1,2-mannosidase IA;man(9)-alpha-mannosidase;mannosyl-oligosaccharide 1,2-alpha-mannosidase IA;processing alpha-1,2-mannosidase IA APPROVED protein-coding ENSG00000111885 6821 05066 604344 REVIEWED 7246026 MAN1B1-AS1 MAN1B1 antisense RNA 1 (head to head) 11181995;12477932;14702039 100289341 ABBA01022740;AK023312;AL807752;AMYH01021889;AX882830;BC020858;BC032375;CH471090;NG_031978;NR_027447 AAH20858;CAE91746;EAW88344 Hs.593896 5022651;5109281 D11S2921;D1S1425 miscrna 48715 VALIDATED 1320278 MAN1A2 mannosidase, alpha, class 1A, member 2 Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008] 1 1 1 p13 116138692 116296183 + 117711608 117869843 + 117910085 118068320 + 1580863;6480464;6907045 9592125;18987618;16710414;16344560;15489334;15231748;14702039;12477932;12560567;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2542563;2541446;2187500;8892864;8218172;2355006;2283726;20379614;10915796;18029348;19850743 10905 H0Y543;H0Y7H1;O60476;Q5T9E3 ABBA01068501;ABBA01068502;ABBA01068503;AF027156;AF053621;AF053626;AK001970;AK090840;AK307842;AL157902;AL358072;AMYH01000972;AMYH01000973;AMYH01000974;AU133800;BC015874;BC052954;BC063300;CH471122;NM_006699 AAC26169;AAC26200;AAC26201;AAH63300;BAG50997;EAW56675;EAW56676;NP_006690;O60476 Hs.435938 1652300;1724587;1760457;1762125;1856414;2128973;2146273;2147495;2151373;2167173;2177119;2184327 D1S1561;D1S2747;D1S3557;D1S3587;G31192;G31193;G31194;RH121290;SHGC-143073;SHGC-146026;SHGC-75382;SHGC-75386 MAN1B OTTHUMP00000013983;alpha-1,2-mannosidase IB;alpha1,2-mannosidase;mannosyl-oligosaccharide 1,2-alpha-mannosidase IB;processing alpha-1,2-mannosidase IB APPROVED protein-coding 6822 05067 604345 VALIDATED 1347467 MAN1B1 mannosidase, alpha, class 1B, member 1 This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011] 9 9 q34 139101200 139123460 + 139981379 140003639 + 1580863;6480464;6907045 21145461;9592125;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2542563;2541446;2187500;12560567;8892864;8218172;2406237;2355006;2283726;10995765;10521544;10409699;18619586;18003979;17727818;16344560;16303743;15785934;15713668;15489334;15164053;14702039;12975309;12815101;12736254;12477932;19444872;19739260;16341674;12829701;18303019;12090241;21763484;21697506;21900206;21987572;21906983;20643940 11253 B3KQC5;H0YFU3;H0YFV8;H0YG20;H0YGQ1;H0YGV7;H0YI64;H0YIU0;Q9UKM7 AB209276;ABBA01022740;ABBA01022741;ABBA01022742;AF145732;AF148509;AI312031;AK074559;AK074699;AK094878;AK126926;AK127005;AK128033;AK128257;AK128341;AK130143;AK298480;AK299043;AK309808;AK315797;AL110221;AL807752;AL929554;AMYH01021889;AY358465;BC002953;BC006079;BE731944;BM848429;BQ448144;CH471090;CR749534;DA763005;NG_031978;NM_016219;NR_045720;NR_045721 AAD45504;AAF03215;AAH02953;AAH06079;AAQ88830;ABM82787;ABM85976;BAC11060;BAD92513;BAG51987;BAG54653;BAG54664;BAG60691;BAG61117;CAB53680;CAH18340;EAW88345;EAW88346;EAW88347;NP_057303;Q9UKM7 Hs.279881 1712206;5037552 D8S2279;G54155 ERMan1;FLJ37559;MANA-ER;MRT15 ER alpha 1,2-mannosidase;ER alpha-1,2-mannosidase;ER mannosidase 1;Man9GlcNAc2-specific processing alpha-mannosidase;OTTHUMP00000022681;OTTHUMP00000237863;OTTHUMP00000237864;alpha 1,2-mannosidase;endoplasmic reticulum alpha-mannosidase 1;endoplasmic reticulum alpha-mannosidase I;endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase;endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1;man9GlcNAc2-specific-processing alpha-mannosidase APPROVED protein-coding ENSG00000177239 6823 05068 604346;614202 REVIEWED 735705 MAN2A1 mannosidase, alpha, class 2A, member 1 This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Jul 2008] 5 5 q21-q22 109053055 109231328 + 109025156 109203429 + 1580863;6480464;6907045 3264072;1736542;8524845;18174230;17466984;16335952;15004235;12477932;11158608;9230311;8314846;3922977;1885615;1757461;12560567;8093218;3099781;2829950;11530211;9109416;8673525;2649653;2542563;2541446;2187500;8892864;8218172;2355006;2283726;20189245;20379614;20512086;22939629;23535033;9472029;18215327;18314154;18330979 4124 Q16706;Q49A69 ABBA01069083;ABBA01069084;ABBA01069085;ABBA01069086;ABBA01069087;AC008417;AC011366;AC012603;AK314090;AL833486;AMYH01015545;BC031659;BC043416;BC142656;BC142696;BX341412;BX643508;CH471086;D63998;NM_002372;U31520 AAC50302;AAH43416;AAI42657;AAI42697;BAA10017;EAW49048;NP_002363;Q16706 Hs.432822 1654902;1657099;1663047;1667207;1735564;1785412;1785668;1785698;2110507;2116192;2120629;2172259;2184957;5037746;5093086 A005D24;A009F34;D1S3696;D5S1681E;D5S2496;G32511;MAN2A1_8458;RH17531;SGC32412;SGC35577;SHGC-144534;SHGC-68501;SHGC-79229;STS-W86997;WI-18306 GOLIM7;MANA2;MANII AMan II;Golgi alpha-mannosidase II;OTTHUMP00000222794;alpha-mannosidase 2;golgi integral membrane protein 7;man II;mannosidase 2, alpha 1;mannosidase, alpha type II;mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase APPROVED protein-coding ENSG00000112893 6824 01110 154582 REVIEWED 1321024 MAN2A2 mannosidase, alpha, class 2A, member 2 15 15 15 q26.1 67856382 67874776 + 89248424 89266819 + 91447420 91465815 + 1580863;6480464;6907045 3099781;16169070;14759258;8524845;12560567;11530211;9109416;8673525;2829950;2649653;2542563;2541446;2187500;8093218;3264072;1736542;8892864;8218172;2355006;2283726;12477932;18839057;18215327;18314154;18330979 4122 B4DEU9;B4DRE0;H0YK77;H0YKH9;H0YKM7;H0YKQ2;H0YKT0;H0YL67;H0YLB9;H0YLL4;H0YLU3;H0YML7;H0YMU0;H0YNC8;H0YNG5;P49641;Q9P1E4 ABBA01053070;AC067986;AC068831;AF116691;AI361497;AI697595;AK289863;AK293799;AK295646;AK299213;AK308838;AK316150;AL110288;AL832306;AMYH01006924;BC136448;BC144111;CA442098;CH471101;D55649;L28821;NM_006122 AAA92022;AAF71111;AAI36449;BAA09510;BAF82552;BAG57210;BAG58516;BAG61252;BAH14521;EAX02118;EAX02119;EAX02120;EAX02121;EAX02122;EAX02123;EAX02124;NP_006113;P49641 Hs.116459 1696710;1712178;1733402;2107309;2112958;2113154;2113162;2113164;2113172;2173163;5023387 D15S1173;D15S1434E;D15S1482;D15S1488;D15S1491;D15S1496;D15S545;G54140;MAN2A2__7365;SHGC-83061;STS-T97988 MANA2X MAN IIx;alpha-mannosidase 2x;alpha-mannosidase IIx;mannosidase, alpha type II-X;mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase;manosidase, alpha-, type II, isozyme X protein-coding ENSG00000196547 6825 02994 600988 VALIDATED 1353697 MANBB mannosidase, beta B, soluble 4127 6832 1320140 MAN1C1 mannosidase, alpha, class 1C, member 1 1 1 1 p35 24340032 24507337 + 25816546 25983845 + 25943959 26111258 + 1580863;6480464;6907045 10915796;17727818;16964243;16710414;16344560;15231748;12477932;8889548;8093218;3264072;3099781;2829950;1736542;12560567;11530211;9109416;8673525;2649653;2542563;2541446;2187500;8892864;8218172;2406237;2355006;2283726;20379614 57134 A6NGN6;B1AJZ5;Q9NR34 AB209275;ABBA01017762;ABBA01017763;ABBA01017764;ABBA01017765;ABBA01017766;ABBA01034885;AF261655;AK128560;AL020996;AL031280;AMYH01000393;AMYH01000394;BC038959;BC137017;CH471059;DA068812;NM_020379 AAF97058;AAI37018;BAD92512;EAX07870;EAX07871;NP_065112;Q9NR34 Hs.197043 1733094;1733162;1751513;1772122;1776455;2135157;2146314;2147843;2170631;5015961;5017516;5020948;5037552 A005U19;D15S1477;D1S1427;D1S1468;D8S2279;G35510;MAN1C1;RH36069;RH36124;SHGC-105318;SHGC-37693;SHGC-74415;WI-14148 HMIC;MAN1A3;MAN1C;pp6318 1,2-alpha-mannosidase IC;OTTHUMP00000004643;OTTHUMP00000004644;OTTHUMP00000004645;mannosyl-oligosaccharide 1,2-alpha-mannosidase IC;processing alpha-1,2-mannosidase IC protein-coding 19080 14354 VALIDATED 5687775 MANEA-AS1 MANEA antisense RNA 1 (head to head) q16.1 12477932 100861591 AL671884;BC047582 Hs.616643 APPROVED miscrna 43732 733679 MAN2C1 mannosidase, alpha, class 2C, member 1 15 15 q11-q13 73435186 73447994 - 75648133 75660968 - 1580863;6480464 2649653;14667819;19018777;17081983;16721356;15489334;12643454;12477932;11230166;8452531;8125298;3709545;2420791;1757461;752528;396129;12560567;11530211;9109416;8673525;2829950;2542563;2541446;2187500;8093218;3264072;3099781;1736542;8892864;8218172;2355006;2283726;19572206;20978011;21508515;21890473;23486476;22990118;21556061;21906983;18215327;18314154;18330979 4123 B4DH23;H3BMJ3;H3BQH9;H3BQJ2;H3BRI3;H3BRV3;H3BSE5;H3BUW3;Q9NTJ4 AB209141;ABBA01060522;AC068338;AF044414;AK225145;AK294892;AK295265;AK311065;AL136876;AMYH01006814;BC010081;BC038594;BC050550;BC080191;BM151712;BX647111;CH471136;DC342919;NM_001256494;NM_001256495;NM_001256496;NM_006715;U37248 AAC00190;AAC00568;AAH50550;AAH80191;BAD92378;BAG57984;BAG58253;CAB66810;EAW99252;EAW99253;EAW99254;NP_001243423;NP_001243424;NP_001243425;NP_006706;Q9NTJ4 Hs.26232;Hs.598731 1646966;1687327;5014051;5015619;5021728;5022200;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;L18426;RH91923;WI-12510;rs1128933 DKFZp686E23167;MAN6A8;MANA;MANA1;MGC87979 alpha mannosidase 6A8B;alpha-D-mannoside mannohydrolase;alpha-mannosidase 2C1;mannosidase, alpha 6A8;mannosidase, alpha A, cytoplasmic protein-coding ENSG00000140400 6827 01109 154580 VALIDATED 1348586 MAN2B1 mannosidase, alpha, class 2B, member 1 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] 19 19 cen-q13.1 12618322 12638828 - 12757322 12777591 - 1580863;6480464;7240710 12477932;8910458;16344560;15712269;15489334;12754519;12718372;9915946;9758606;9192839;9158146;8889548;8166692;7832746;3034518;848490;821469;12560567;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2542563;2541446;2187500;8892864;8218172;2355006;2283726;15231748;19722277;20800603;20301570;22863883;22939629;23739915;18816836;18215327;18314154;18330979 4125 A8K6A7;M0QXY0;M0QYZ1;M0QZG6;M0R174;O00754 AB209921;ABBA01029783;ABBA01029784;ABBA01029785;AC010422;AK291572;AK303418;AMYH01009493;AMYH01009494;AU127707;AU128464;AW172353;BC000736;BI828908;BM147968;BM982008;BU659731;CH471106;DB237901;NG_008318;NM_000528;NM_001173498;U05572;U60266;U60885;U60886;U60887;U60888;U60889;U60890;U60891;U60892;U60893;U60894;U60895;U60896;U60897;U60898;U60899;U68382;U68567 AAB03816;AAC34130;AAC50811;AAC50812;AAC51362;AAH00736;ABM82804;ABM85992;BAD93158;BAF84261;BAG64471;EAW84279;EAW84280;EAW84281;NP_000519;NP_001166969;O00754 Hs.356769;Hs.657204 1743445;1846954;2119630 GDB:335318;NIB1927;WI-18725 LAMAN;MANB OTTHUMP00000209823;OTTHUMP00000209824;lysosomal acid alpha-mannosidase;lysosomal alpha-mannosidase;mannosidase alpha-B;mannosidase, alpha B, lysosomal APPROVED protein-coding ENSG00000104774 6826 02007 248500;609458 REVIEWED 1318845 MAN2B2 mannosidase, alpha, class 2B, member 2 4 4 4 p16.1 6478589 6525854 + 6627803 6675089 + 6576902 6624188 + 1580863;6480464 1736542;11530211;16303743;16115860;15815621;15489334;12477932;10407159;10231032;9425289;8889548;12560567;8093218;3264072;3099781;2829950;9109416;8673525;2649653;2542563;2541446;2187500;8892864;8218172;2355006;2283726;20800603;19722277;20379614;21906983 23324 E9PCD7;H0YA68;Q05BN7;Q9Y2E5 AA453331;AB023152;ABBA01012723;ABBA01012724;ABBA01012725;ABBA01012726;AC093323;AK025803;AK075246;AK301473;AL832232;AL833071;AMYH01013918;BC033307;BC036836;BC094773;BM146210;CF135581;CH471131;NM_015274 AAH33307;AAH36836;AAH94773;BAA76779;BAG52093;BAH13490;CAD89971;EAW82389;EAW82390;EAW82391;EAW82392;NP_056089;Q9Y2E5 Hs.188464 1648951;1671825;1680411;1684401;1777165;2133496;2133498;2136739;2183883;5022578 A005V09;D1S1423;G20529;G33597;RH40651;RH64841;SHGC-24717;SHGC-59610;SHGC-59768;WI-20841 KIAA0935 OTTHUMP00000217460;OTTHUMP00000217558;OTTHUMP00000217559;core-specific lysosomal alpha-1,6-Mannosidase;epididymis-specific alpha-mannosidase protein-coding ENSG00000013288 29623 14355 VALIDATED 1314025 MANBA mannosidase, beta A, lysosomal This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008] 4 4 q22-q25 103771691 103901196 - 103552643 103682151 - 1580863;6480464;7240710 17899454;16344560;15489334;12477932;8285582;7876128;12560567;8892864;8218172;2829950;2649653;2542563;2355006;2283726;8093218;3264072;3099781;1736542;11530211;9109416;8673525;2541446;2187500;9384606;19728872;19773279;20332099;20800603;23128233;21833088;18215327;18314154;18330979 4126 D6RA01;E9PFW2;O00462 AB209846;ABBA01063701;ABBA01063702;AC018797;AF213884;AI079197;AK291598;AK300015;AK312827;AMYH01014432;AU132611;BC015743;CH471057;EU009130;NG_012804;NM_005908;U60337 AAC39573;AAF35233;AAH15743;ABS29701;BAD93083;BAF84287;BAG61830;EAX06137;NP_005899;O00462 Hs.480415 1341874;1726383;1766191;1852666;2121199;2165388;2170865;2174686 2010;A001Z33;D4S1070;D4S3043;G62492;RH36011;SHGC-149558;SHGC-16519 MANB1 OTTHUMP00000161766;OTTHUMP00000219645;beta-mannosidase;lysosomal beta A mannosidase;mannanase;mannase APPROVED protein-coding ENSG00000109323 6831 02008 248510;609489 REVIEWED 1353788 MANBAL mannosidase, beta A, lysosomal-like 20 20 20 q11.23-q12 32625331 32652944 + 35351465 35379077 + 35918051 35945663 + 1580863;6480464 15489334;12477932;11780052;19322201;17207965;21078624 63905 A2A2E0;Q9NQG1 ABBA01006617;AK026708;AK292971;AL034422;AMYH01011896;AV753915;BC014672;BC016822;BI754866;BQ051237;CH471077;NM_001003897;NM_022077 AAH14672;AAH16822;ACE87014;ACE87702;ADQ32409;BAF85660;EAW76068;EAW76069;EAW76070;EAW76071;NP_001003897;NP_071360;Q9NQG1 Hs.6126 1668384;2165388 A001Z33;AL031195 OTTHUMP00000030917;OTTHUMP00000030918;OTTHUMP00000178824;OTTHUMP00000178825;protein MANBAL protein-coding ENSG00000101363 15799 14356 VALIDATED 5132067 MANSC4 MANSC domain containing 4 12 12 p11.22 33061159 33069766 - 27915599 27924209 - 16541075 100287284 A6NHS7 ABBA01068050;AC009509;AMYH01004351;CH471094;NM_001146221 A6NHS7;EAW96569;NP_001139693 Hs.202178 1648977 D12S2104 MANSC domain-containing protein 4;MANSC domain-containing protein ENSP00000370673;OTTHUMP00000240425 protein-coding ENSG00000205693 40023 PROVISIONAL 1345544 MANEA mannosidase, endo-alpha N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008] 6 6 q16.1 96132134 96164047 + 96025373 96057328 + 6480464 18438686;16381901;15760709;15677381;16733250;15489336;14702039;14574404;12477932;11230166;11076863;9361017;12560567;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2542563;2541446;2187500;18029348;19255376;20379614 79694 Q5SRI9 ABBA01014533;AJ577574;AK022900;AK291940;AL671884;AMYH01016523;AMYH01016524;AY048774;AY048775;AY372528;BC137014;BC137016;BC146671;BC150199;BQ018032;BX481372;BX537398;BX640869;CR936827;NM_024641 AAI37015;AAI37017;AAI46672;AAI46690;AAI50200;AAL07306;AAL07307;AAQ75077;BAB14298;BAF84629;CAD97640;CAE12165;CAE45927;CAL37750;CAL38349;NP_078917;Q5SRI9 Hs.734632;Hs.743412 DKFZp686D20120;ENDO;FLJ12838;hEndo OTTHUMP00000017907;alpha 1,2-endomannosidase;endo-alpha mannosidase;endomannosidase;glycoprotein endo-alpha-1,2-mannosidase;mandaselin APPROVED protein-coding ENSG00000172469 21072 14357 612327 VALIDATED 1353615 MANSC1 MANSC domain containing 1 12 12 12 p13.2 17625840 17646790 - 12373485 12394436 - 12482218 12503169 - 737633;6480464 12477932 18029348;15489334;14702039;12975309 54682 F5H3M3;F5H6G8;Q9H8J5;Q9NW60 ABBA01067835;ABBA01067836;ABBA01067837;ABBA01067838;ABBA01067839;AC007621;AK001160;AK023622;AK298681;AMYH01004289;AY358563;BC032998;CH471094;NM_018050 AAH32998;AAQ88926;ABZ92341;BAA91526;BAB14621;BAG60844;EAW96254;EAW96255;NP_060520;Q9H8J5 Hs.591145 1671500;1754427;2110509;2132846;5015619;5015961;5022322;5037552 D11S2560;D11S3114;D15S1477;D8S2279;G41289;MANSC1__7367;SHGC-132467;SHGC-32457 9130403P13Rik;FLJ10298;LOH12CR3 MANSC domain-containing protein 1;OTTHUMP00000238984;OTTHUMP00000238985;loss of heterozygosity 12 chromosomal region 3 protein protein-coding ENSG00000111261 25505 10067 VALIDATED 1604520 MANEAL mannosidase, endo-alpha-like 1 1 1 p34.3 36537598 36545102 + 38032361 38039807 + 38259774 38267278 + 6480464 16710414;15489334;14702039;12477932 149175 E9PMU5;H0YCZ3;Q5VSG8 AB188490;ABBA01023263;ABBA01023264;AK055996;AK301399;AL929472;AMYH01000505;BC009952;BC031903;BC038190;BC063587;BC077730;BM312572;CH471059;NM_001031740;NM_001113482;NM_152496 AAH09952;AAH31903;AAH63587;AAH77730;BAB71068;BAG62934;EAX07319;EAX07320;NP_001026910;NP_001106954;NP_689709;Q5VSG8 Hs.534562;Hs.706404 2132744;2177213;5014051;5016478;5021872;5022200;5037552 Cda0ha06;D1S2368;D8S2278;D8S2279;GDB:434012;L18426;sY3084 FLJ31434;MGC78681;RP11-109P14.3 OTTHUMP00000004509;OTTHUMP00000004510;OTTHUMP00000232298;OTTHUMP00000232299;OTTHUMP00000232300;glycoprotein endo-alpha-1,2-mannosidase-like protein protein-coding ENSG00000185090 26452 08713 VALIDATED 736437 MAP1A microtubule-associated protein 1A This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008] 15 15 q15.3 41597098 41611110 + 43809806 43823818 + 1580863;2304042;6480464 3252178 7908020;20471030;12812986;8812494;19251251;19165527;18056259;17081983;16996626;15592455;15591041;15342556;15202935;12477932;12411430;12123681;11925566;11896150;11418592;11278895;11164566;11002287;10747088;9786987;9593747;7908909;7820861;7806212;7629894;6142895;2470876;8997639;2212989;15231747;15251455;16014633;16478718;16537434;20562859;20936779;20391533;21139048;22779921 4130 E9PGC8;J3KPX8;P78559;Q504X9 ABBA01038346;AC019011;AF095910;AF200415;AI124707;AK291052;AMYH01006590;AW296788;AW379921;BC010470;BC055312;BC094702;BI756580;BP309709;BQ000917;CH471125;NM_002373;U14577;U38291;U38292;U80458;Z47035;Z47038 AAA81362;AAB41132;AAB41133;AAD00355;AAF03480;AAF08305;AAH55312;AAH94702;ACX32325;BAF83741;CAA87104;EAW92606;EAW92607;EAW92608;NP_002364;P78559 Hs.194301;Hs.619338 1660853;1713045;1736814;1736816;1744063;1772718;1799236;1799410;1799412;1800120;1800326;1801220;1801338;1801606;1801670;1805252;1805556;1805818;1806038;1806092;1806294;1806378;1806604;1932568;1932570;1932572;1932574;1932576;1932578;1932580;1932582;1932584;1932586;1932588;1932590;1932592;1932594;1932596;1932598;1932600;1932602;1932604;1932606;1932608;1932610;1932612;1932614;1932616;1932618;1932620;1932622;1932624;1932626;1932628;1932630;1932632;1932634;1932636;1932638;1932640;1932642;1932644;1932646;1932648;1932650;1932652;1932654;1932656;1932658;1932660;1932662;1932664;1932666;1932668;1932670;1932672;1932674;1932676;1932678;1932680;1932682;1932684;1932686;1932688;1932690;1932692;1932694;1932696;1932698;1932700;1932702;1932704;1932706;1932708;1932710;1932712;2111111;2132302;2135538;2173489;2208800;2208802;2208804;2208806;2208808;2208810;2208812;2208814;2208816;2208818;5021686 D15S180E;D15S801;D15S803;ECD00466;ECD00556;ECD00557;ECD00916;ECD01021;ECD01482;ECD01541;ECD01681;ECD01714;ECD03571;ECD03726;ECD03860;ECD03972;ECD03999;ECD04102;ECD04144;ECD04259;GDB:385407;REN37116;REN37117;REN37118;REN37119;REN37120;REN37121;REN37122;REN37123;REN37124;REN37125;REN37126;REN37127;REN37128;REN37129;REN37130;REN37131;REN37132;REN37133;REN37134;REN37135;REN37136;REN37137;REN37138;REN37139;REN37140;REN37141;REN37142;REN37143;REN37144;REN37145;REN37146;REN37147;REN37148;REN37149;REN37150;REN37151;REN37152;REN37153;REN37154;REN37155;REN37156;REN37157;REN37158;REN37159;REN37160;REN37161;REN37162;REN37163;REN37164;REN37165;REN37166;REN37167;REN37168;REN37169;REN37170;REN37171;REN37172;REN37173;REN37174;REN37175;REN37176;REN37177;REN37178;REN37179;REN37180;REN37181;REN37182;REN37183;REN37184;REN37185;REN37186;REN37187;REN37188;RH120306;RH66325;RH79118;STS-T08733;STS-Z47038;WI-19303;ksks17;stSG627748;stSG627750;stSG627751;stSG627752;stSG627753;stSG627754;stSG627755;stSG627756;stSG627757;stSG627758 FLJ77111;MAP1L;MTAP1A MAP-1A;OTTHUMP00000196074;microtubule-associated protein 1 a;microtubule-associated protein 1-like;microtubule-associated protein 1A;proliferation-related protein p80 APPROVED protein-coding ENSG00000166963 6835 02549 600178 REVIEWED 1316336 MANF mesencephalic astrocyte-derived neurotrophic factor The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and promotes cell proliferation. The protein was initially thought to be longer at the N-terminus and to contain an arginine-rich region but transcribed evidence indicates a smaller open reading frame that does not encode the arginine tract. The presence of polymorphisms in the arginine-rich region, including a specific mutation that changes the previously numbered codon 50 from ATG to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus not tumor-related. [provided by RefSeq, Jun 2010] 3 3 p21.1 51397743 51401815 + 51422692 51426828 + 1599219;1599220;2325804;2317157;2325813;2325809;6480464 8971156;8649854;9174057;17072959;19641128;19773801 15146197;12794311;12665801;12477932;10767373;9230196;19258449;18561914;15489334;14699964;18718866;19399876;20186704;20685313;21047780;21139048;21890473;23000965;23255601 7873 H7C2D6;P55145 ABBA01024531;AC092037;AK292243;AMYH01013178;BC007282;BC033055;BC113588;BC113590;BE514267;BT007110;CH471055;CN410909;CN410911;CQ834850;M83751;NG_012652;NM_006010 AAB08753;AAH07282;AAI13589;AAI13591;AAP35774;ACE87065;ACE87746;BAF84932;CAH05640;EAW65138;NP_006001;P55145 Hs.436446 1657694;1712535;1739313;1740223;1778846;2129517;2136519 D17914;D3S1679;D3S3306E;D3S4001;RH12752;RH1498;SGC32878 ARMET;ARP;MGC142148;MGC142150 OTTHUMP00000210954;arginine-rich, mutated in early stage tumors;mesencephalic astrocyte-derived neurotrophic factor APPROVED protein-coding ENSG00000145050 15461 03558 601916 REVIEWED 1607026 MAP10 microtubule-associated protein 10 1 1 1 q42.2 206211063 206216517 + 231007261 231012715 + 232940638 232946092 + 23264731;17081983;16710414;15489334;12477932;10718198 54627 Q9P2G4 AB037804;ABBA01033067;AK290216;AL451083;AMYH01001827;BC036663;BC109122;CH471098;NM_019090 AAH36663;AAI09123;BAA92621;BAF82905;EAW69975;NP_061963;Q9P2G4 Hs.160373 FLJ75125;KIAA1383;MGC126467;MTR120 OTTHUMP00000035938;hypothetical protein LOC54627;microtubule regulator 120 KDa;microtubule regulator of 120 KDa;uncharacterized protein KIAA1383 APPROVED protein-coding ENSG00000212916 29265 VALIDATED 2301276 MAP1LC3B2 microtubule-associated protein 1 light chain 3 beta 2 12 12 12 q24.22 116626684 116643942 + 115481569 115498808 + 116997186 117014425 + 16541075;19684603;21139048;21890473 643246 A6NCE7 ABBA01020013;AC090670;AC125603;AMYH01004777;AMYH01004778;CH471054;NM_001085481 A6NCE7;AAI56863;EAW98085;NP_001078950 Hs.506947 1683399 RH70752 ATG8G Microtubule-associated proteins 1A/1B light chain 3B-like protein;microtubule-associated protein 1 light chain 3 beta-like;microtubule-associated proteins 1A/1B light chain 3 beta 2 protein-coding ENSG00000171471 34390 PROVISIONAL 732580 MAOB monoamine oxidase B The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008] X X p11.23 43510801 43626665 - 43625857 43741721 - 1358484;1300048;1580863;2307352;2316771;6480464;6907045 9129714;18802767;17417741 8602220;7063850;19598235;19506579;19455600;15694196;15589121;15461973;15355491;15261699;15247489;15211623;15057517;15028609;15027868;15024015;14962671;14743364;14697881;14659989;12963742;12913124;12855685;12825788;12815741;12815660;12777388;12763335;12732844;12563176;12477932;12465073;12428723;12360111;12136060;12011284;11956220;11861643;11761322;11753429;11396715;11295131;11171904;11049757;10653595;9596006;9045087;8889548;19156168;19221690;19086053;19058789;19053775;18832861;18553363;18430257;18405071;18327668;18270970;18205889;18092818;17938636;17918234;17885758;17640790;17628790;17449559;17427196;17289152;17270484;17044053;16807522;16674552;16610949;16484337;16427095;16366596;16344560;16129825;15955630;15921854;15862518;15772651;15753616;15710600;15699372;8665924;8613523;8515265;8316221;8060341;7499273;6951409;4687789;3540317;3387449;2023912;1432104;12098640;19268543;19913121;20589923;20603187;20628086;21610556;19657584;19693267;19789505;19863190;19874574;19956754;20022119;20127808;20461808;4016087;16455660;20734064;20485326;20648649;21177257;22270014;21781348;20479760;21786798;21978362;21075085;22974659;21978760;21906983;21971000;21971001;21359973;20467438;21988832;22414661;23054588 4129 B7Z242;B7Z5H3;H0YCD8;P27338 ABBA01046436;ABBA01046437;ABBA01046438;ABBA01046439;ABBA01046440;ABBA01046441;ABBA01046442;ABBA01046443;ABBA01046444;ABBA01046445;ABBA01046446;AK294306;AK298942;AK310458;AK312679;AL008709;AL133791;AMYH01022239;AU127841;BC022494;BM726427;BX537148;CA975968;CH471141;DC326844;M69135;M69177;M89637;NG_008723;NM_000898;S62734;Z95125 AAA59550;AAA59551;AAB27229;AAB46386;AAH22494;ACT64566;ACT64567;BAG35560;BAH11728;BAH12909;EAW59378;EAW59379;EAW59380;NP_000889;P27338 Hs.654473 1338845;1664196;1665470;1741285;1741945;2116216;2119198;2133042;2143732;2160748;5096380;7185580 AFM217YA7;AL023616;DXS6741;DXS7152;DXS7700;DXS8035;DXS9741;GDB:180345;GDB:186952;RH45779;STS-H69551 MGC26382 MAO, brain;MAO, platelet;MAO-B;OTTHUMP00000023166;adrenalin oxidase;amine oxidase [flavin-containing] B;monoamine oxidase type B;tyramine oxidase APPROVED protein-coding ENSG00000069535 6834 02401 309860 REVIEWED 1350200 MAP1LC3P microtubule-associated protein 1 light chain 3 pseudogene 18 18 18 q21.2 49339207 49339831 + 50772642 50773266 + 52621644 52622268 + 387615 ABBA01056107;AC098848;AMYH01009016;AY389342;NG_004859 HsT312 pseudo 31004 INFERRED 733041 MAP1B microtubule-associated protein 1B This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008] 5 5 q13 71438874 71541153 + 71403118 71505397 + 737795;1580863;2304029;2304042;2304007;2304015;2304062;6480464;6484113 8577753;10906717;3252178;17880387;12598335;11395167 12147674;1881920;19054571;18656471;18195017;18079022;18063656;17081983;16996626;16478718;16212419;15762842;15345747;14760703;14702039;12807913;12689591;12684070;12477932;11733546;11102469;11002287;10899930;10764738;9892354;9813091;9570753;9533556;7806212;7519512;2470876;1712602;15205320;15381419;21145461;7908020;20562859;15032605;16014633;18839057;19567321;19615732;20719958;23084401;23184937;21508097;17620599;22586326;21081666;21139048;21890473;16227972;17361185;21151955;21628590;22308378;22779921;11698390;21159966;21645326 4131 D6RA32;D6RA40;D6RCL2;D6RGJ3;P46821;Q6PJD3;Q86X89 ABBA01061901;ABBA01061902;AC012609;AC093218;AF085863;AK055112;AK096273;AK125194;AK307990;AK308147;AMYH01015402;BC017240;BC025240;BC032516;BC033486;BC039822;BC046114;BC056145;BC062464;BC063669;BC073993;BC094834;BC108733;BC139918;BC141853;BC150196;BN001084;BN001085;BX647077;CA429544;CH471084;CR933720;L06237;L31916;NM_005909;Y09836 AAA18904;AAH17240;AAH32516;AAH46114;AAH94834;AAI08734;AAI39919;AAI41854;AAI50197;AAI72388;CAI46250;CAM06633;CAM12311;EAW95696;EAW95697;EAW95698;EAW95699;EAW95700;NP_005900;P46821 Hs.335079 1649865;1658395;1715263;1730163;1742271;1745953;1771827;1779846;2110937;2111125;2117035;2134788;2139814;2146277;2146367;2168132;2178136 AFMB332XE9;D5S1491;D5S1639E;D5S2382;D5S451E;D5S522E;D5S572E;FB10E8;G10477;GDB:194651;RH119882;RH12515;RH78085;SHGC-153845;WI-16218;WI-19293;X51396 DKFZp686E1099;DKFZp686F1345;FLJ38954;FUTSCH;MAP5 MAP-1B;OTTHUMP00000126944;microtubule-associated protein 1B APPROVED protein-coding ENSG00000131711 6836 01139 157129 VALIDATED 735751 MAOA monoamine oxidase A This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] X X p11.3 43400353 43491012 + 43514155 43606071 + 1600723;1600725;1600720;1580863;6480464;6907045;7240710 15670397;15088153;15900229 21273708;21299892;20187845;2483108;2744764;2906043;3540317;8503438;17220478;8211186;19642709;19625011;19593178;19548263;19539632;19506906;19506579;19492728;19485616;19455600;19415821;19382113;19368859;19357553;19337825;19333405;19309535;19302089;19267171;19255579;19248248;19247474;19223155;19214141;19194374;19168625;19156168;19120058;19100789;19086053;19077664;19058789;19032968;19005081;18971477;18955512;18937309;18845200;18832011;18827956;18810510;18752729;18726986;18676680;18639608;18626920;18607773;18596609;18566880;18544183;18504633;18501009;18486967;18474080;18463263;18454435;18437281;18430257;18405071;18405062;18391214;18388730;18387780;18361446;18337637;18294618;18270970;18261931;18258310;18248494;18239643;18227761;18212819;18188752;18092818;18079067;18075472;18046979;18046978;18029114;18023041;17944104;17943028;17931441;17920180;17894408;17885758;17885625;17884271;17883400;17868476;17728669;17692293;17680543;17657171;17627031;17592478;17585061;17563839;17534436;17519928;17476365;17453062;17449559;17440951;17429405;17427196;17426915;17417058;17400359;17393061;17340199;17328795;17298646;17295220;17230031;17221847;17217235;17208375;17192957;17167335;17141746;17044053;17034017;17026953;17020906;17008143;17007976;16958037;16944667;16930369;16896926;16894395;16893905;16890910;16856146;16848906;16829576;16814261;16806099;16801953;16770335;16763378;16741202;16728402;16725119;16674552;16610949;16584839;16547693;16538182;16538181;16526025;16360899;16319504;16272956;16207390;16202396;16186632;16174289;16139427;16129825;16125147;16110245;16094253;15990460;15956990;15936529;15870836;15806601;15722955;15694196;15635592;15564894;15556933;15539858;15523490;15498245;15489334;15486489;15457497;15450911;15349769;15346539;15341275;15292674;15261699;15241435;15211623;15150530;15094788;15088154;15052272;15034227;15024395;14962671;14697881;14520117;12919132;12886034;12877392;12824808;12815746;12778446;12777388;12773616;12668354;12650952;12648733;12629534;12607224;12566936;12563176;12555234;12555227;12554604;12502014;12497620;12497608;12477932;12445480;12428723;12399942;12360111;12170473;12164325;12163988;12161658;12151768;12140786;12136060;12116182;12098640;11999895;11992560;11992559;11992558;11963571;11812236;11761322;11443519;11353450;11304831;11140838;11121185;10647887;8889548;8678123;8584674;8316221;8125298;7519662;7063850;3418353;3387449;3178846;2793188;2764901;2414414;2023912;2021654;1886775;1783405;1578281;1432104;11805333;11945082;11927135;11920860;11861643;22619623;21099450;20850185;21236646;19913121;20573161;20589923;20595415;20628086;20652353;20691428;20729761;20731636;20734127;21610556;1546132;19064571;19170196;19224413;19398936;19573521;19583892;19645722;19657584;19666839;19692168;19693267;19727210;19796878;19818126;19829167;19859025;19874574;19892410;19915868;19935847;19941049;19951362;20010318;20033274;20041956;20046877;20078943;20127808;20152292;20175604;20201935;20206656;20213484;20218801;20303364;20332182;20351714;20354746;20364435;20374544;20435093;20461808;20464528;20468064;20477771;20497231;6408492;6788990;20820831;20869421;21383264;20421737;20734064;20862259;20967566;21039487;19777560;20677440;16455660;20204405;20485326;21177257;20873971;21422455;21516943;22436428;22906985;23197227;21295226;21302344;21152968;21819071;21605465;21698196;22832821;21884321;21114364;21147794;21538940;21075085;21775495;21912191;21890473;21906983;21983350;22627167;21761555;21978760;21971000;21971001;21971004;22351881;21530215;21912392;22030358;22336227;21359973;22162429;22193458;22198720;22711722;22569243;21521428;21934643;22041522;23044341;23067570;22911667;22948232;23076524;23116433;23054588;22473857;22781862 4128 P21397;Q49A63;Q53YE7 ABBA01046449;ABBA01046450;ABBA01046451;ABBA01046452;ABBA01046453;ABBA01046454;ABBA01046455;ABBA01046456;AK223499;AK291769;AK293926;AL020990;AL109855;AMYH01022239;AY684850;AY684858;AY685682;AY685685;BC008064;BC044787;BG534382;BT006651;BU684121;BX501303;BX530072;BX537147;BX537148;CH471141;M68840;M68845;M68857;M69226;M89636;NG_008957;NM_000240;NM_001270458;S72704;S81371;X17192;X60811;X60813;X60819 AAA59547;AAA59548;AAA59549;AAB46385;AAD14113;AAD14361;AAH08064;AAH44787;AAP35297;AAV34705;AAV34711;AAV34717;AAV34720;ABM81602;ABM84783;BAD97219;BAF84458;BAG57307;EAW59381;EAW59382;EAW59383;NP_000231;NP_001257387;P21397 Hs.183109 1651287;1656398;1671263;1701848;1702872;1742019;1742109;1742111;1791900;1796278;1856623;2137445;2183051;2220300 AFMa040yf9;DXS7156;DXS8277;GDB:178075;GDB:189507;GDB:191609;GDB:191610;GDB:313553;LAMP2;MAOA;MAOA_1352;PMC130047P4;STS-AA035648;WI-19024 MAO-A MAO-A;OTTHUMP00000023165;amine oxidase [flavin-containing] A;monoamine oxidase type A APPROVED protein-coding 6833 02400 300615;309850 REVIEWED 1350730 MAP2K1P1 mitogen-activated protein kinase kinase 1 pseudogene 1 8 8 8 p12 28845667 28845856 + 30005971 30006160 + 29885229 29886413 + 29778 ABBA01023672;AC044849;AF157487;AMYH01018616;NG_001273 1685355;1750053 RH68988;SHGC-112319 pseudo ENSG00000254013 6841 INFERRED 1347480 MAP1LC3A microtubule-associated protein 1 light chain 3 alpha MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012] 20 20 q11.22 32598353 32611810 + 33134688 33148149 + 1580863;1643329;1643198;4890444;6480464 15325588;17665967;20562859 16303767;11096062;12740394;15187094;19322194;18695874;18688877;18653543;17804493;17580304;17438365;17102583;16381901;15857831;15489336;15489334;15383276;15213446;12477932;11780052;11278895;11230166;11076863;8833088;7908909;2470876;8997639;2212989;16169070;16704426;20168092;21415575;21497758;21412173;19250911;19623642;19696020;19812190;20004946;20023420;20061800;20398630;20639871;20382705;20352102;20713600;20479004;20937856;21048031;22237724;21045561;22328508;20417604;21262964;21832049;23239879;21507968;21628531;22648564;21537144;23219390;23449484;21812771;15342556;16341674;19820708;21674156;21729531;21943220;21709020;21845828;21316776;21909394;22249245;21684337;21556768;22011618;16286508;19427866;19838173;20204693;20495340;21460636;21617041;21935636;22354992;22411133;22505714;20529957;23345115;20010802;21988832;22963397;23376921;23434281;23459205;23209295;23333394;23089287;20153330;18448665;23043107;22421968;22647537;19056683;22728060 84557 Q9H492 ABBA01019191;ABBA01019192;AF276658;AL118520;AL833855;AMYH01011863;BC015810;BM740344;BM919877;BP212418;BT007452;CH471077;EL954540;H18312;NM_032514;NM_181509 AAH15810;AAK35151;AAP36120;ABM84567;ABM86462;CAD38714;CAL37468;EAW76263;EAW76264;EAW76265;EAW76266;NP_115903;NP_852610;Q9H492 Hs.632273 1774439;5017951 Map1lc3a;RH46990 ATG8E;LC3;LC3A;MAP1ALC3;MAP1BLC3 MAP1 light chain 3-like protein 1;MAP1A/1B light chain 3 A;MAP1A/MAP1B LC3 A;MAP1A/MAP1B light chain 3 A;OTTHUMP00000030696;OTTHUMP00000030697;OTTHUMP00000030698;autophagy-related protein LC3 A;autophagy-related ubiquitin-like modifier LC3 A;microtubule-associated proteins 1A/1B light chain 3;microtubule-associated proteins 1A/1B light chain 3A APPROVED protein-coding ENSG00000101460 6838 03144 601242 REVIEWED 1606859 MAP1LC3C microtubule-associated protein 1 light chain 3 gamma Autophagy is a highly regulated bulk degradation process that plays an important role in cellular maintenance and development. MAP1LC3C is an ortholog of the yeast autophagosome protein Atg8 (He et al., 2003 [PubMed 12740394]).[supplied by OMIM, Nov 2010] 1 1 1 q43 215414462 215418051 - 240225415 240228998 - 242158792 242162385 - 4890444 20562859 12740394;16710414;15489334;15187094;15146197;12477932;8997639;2212989;19250911;23022382;23043107 440738 Q9BXW4 ABBA01033265;AF276659;AMYH01001875;BC127722;BC132986;BC132988;BX571673;CH471098;CN260933;NM_001004343 AAI27723;AAI32987;AAI32989;AAK35152;EAW70108;NP_001004343;Q9BXW4 Hs.534971 5015619;5022200 D11S3114;L18426 ATG8J;LC3C LC3-like protein 2;MAP1 light chain 3-like protein 2;MAP1 light chain 3-like protein 3;MAP1A/MAP1B LC3 C;MAP1A/MAP1B light chain 3 C;OTTHUMP00000037810;autophagy-related protein LC3 C;autophagy-related ubiquitin-like modifier LC3 C;microtubule-associated proteins 1A/1B light chain 3C APPROVED protein-coding ENSG00000197769 13353 14226 609605 VALIDATED 1317942 MAP1S microtubule-associated protein 1S 19 19 p13.11 17691303 17706324 + 17830303 17845324 + 6480464 15907802;15528209;12762840;16297881;17658481;19027008;16396496;15302935;14702039;14627543;12477932;11827465;15753381;15205320;15964851;19759419;20562859;21262964;16055720;22863883;20360068;21139048;21890473;21906983;22505724 55201 B4DH53;M0QX37;M0QXE8;M0QXK6;M0QXQ9;M0QY41;M0QYI5;M0QZ50;M0R1J2;M0R1M7;Q96SP8 AA905204;AB062430;ABBA01051228;AC008761;AJ440784;AK001531;AK023118;AK027623;AK292555;AK294936;AK308975;AL834233;AMYH01009575;BC006358;BC007253;BC008806;BC067115;BC080547;BC113952;BG771546;CH471106;DQ387861;NM_018174 AAH06358;AAH07253;AAH08806;AAH67115;AAH80547;AAI13953;ABD47682;BAA91743;BAB14415;BAB55242;BAB93493;BAF85244;BAG58014;CAD29574;CAD38911;EAW84626;NP_060644;Q66K74 Hs.66048 1853171;5112305 D19S1132;RH103228 BPY2IP1;C19orf5;FLJ10669;MAP8;MGC133087;VCY2IP-1;VCY2IP1 BPY2-interacting protein 1;MAP-1S;VCY2 interacting protein 1;VCY2-interacting protein 1;microtubule-associated protein 1S;microtubule-associated protein 8;variable charge Y chromosome 2-interacting protein 1 protein-coding ENSG00000130479 15715 10461 607573 VALIDATED 1350223 MAP1LC3B microtubule-associated protein 1 light chain 3 beta The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008] 16 16 q24.2 85983320 85995881 + 87425801 87438380 + 1580863;1643329;4890444;6480464 15325588;20562859 15187094;15355958;12740394;11256614;16381901;16344560;16189514;16169070;15489336;15489334;15231747;14713272;14702039;12932674;12477932;11890701;11825910;11076863;11060023;8997639;2212989;16303767;18083104;18184459;19250911;19623642;20038797;20863706;20889906;22963397;22095627;22170153;22056771;21900206;21383079;21617041;22354992;22482402;22472876;22080440;22496786;23371253;20010802;21890473;21988832;23333919;23721406;21099673;22174682;23043107 81631 H3BM99;H3BTE7;H3BTL1;Q49A36;Q658J6;Q9GZQ8 ABBA01034328;ABBA01034329;ABBA01034330;AC010531;AF087871;AF183417;AF303888;AK024571;AK025556;AK290956;AK310224;AK310335;AL834298;AMYH01007898;BC018634;BC041874;BC045759;BC048009;BC067797;BG771621;CH471114;DA577457;DB055844;JN663879;NG_029030;NM_022818 AAG09686;AAG23182;AAH18634;AAH41874;AAH45759;AAH67797;AAM10499;ABM84078;ABM87447;AEZ06292;BAB15169;BAF83645;CAD38970;CAL38438;EAW95392;EAW95393;EAW95394;EAW95395;EAW95396;EAW95397;EAW95398;EAW95399;NP_073729;Q9GZQ8 Hs.356061 1683399;1702692;1744885;2158083;5122918 D16F298S2;D16S2663;GDB:451550;RH70752;SHGC-60567 ATG8F;LC3B;MAP1A/1BLC3;MAP1LC3B-a MAP1 light chain 3-like protein 2;MAP1A/MAP1B LC3 B;MAP1A/MAP1B light chain 3 B;OTTHUMP00000175009;autophagy-related protein LC3 B;autophagy-related ubiquitin-like modifier LC3 B;microtubule-associated proteins 1A/1B light chain 3;microtubule-associated proteins 1A/1B light chain 3B APPROVED protein-coding ENSG00000140941 13352 14358 609604 REVIEWED 733668 MAP2 microtubule-associated protein 2 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010] 2 2 q34-q35 209997016 210307079 + 210288771 210598834 + 1580863;6480464;6483087;6483088;6483323;6483080;6483086;6483090;6483091;6483322;6483319;6483324;6483079;6483085;6483089;6483082;6483083 21401443;21300124;21704982;22265658;21421895;20092829;20024519;22083255;19966940;20873448;22444278;21858873;20568963;21948028;21933624 1494913;9588626;19369632;19309409;19165527;19009302;18073143;17326138;17081983;16916793;16611822;16195780;16145685;15822905;15623521;15536091;15465982;15345747;15146346;14759258;14702039;14604896;14594945;12927759;12890753;12775713;12605092;12477932;12082079;12079519;12023276;11922706;11546790;11171103;11029056;10781592;10527895;8631898;8624078;8294038;7854050;7479905;3200318;3103857;3027087;2701845;2561973;2481044;2455776;1708129;15285795;15285794;8997639;2212989;12879020;1902666;10862698;7556643;12629046;19913121;20628086;18341635;19701075;19880519;20379614;9384577;20100193;22863883;22874672;21832049;19953087;21139048;22272295;22403409;2777757;22985576;7820861;11831386;21249135 4133 A8MZ31;E7EV03;H7BZB9;P11137;Q6NYC5 AB209330;ABBA01062724;ABBA01062725;ABBA01062726;ABBA01062727;ABBA01062728;ABBA01062729;AC006385;AC019106;AC079833;AC108072;AF088065;AK055674;AK056148;AK291446;AK307603;AL833567;AMYH01011458;AMYH01011459;AMYH01011460;AV718243;BC027583;BC038857;BC066648;BC110423;BC117123;BC143245;BX431335;BX474027;BX485448;BX490896;CH471063;CK903071;M25668;NM_001039538;NM_002374;NM_031845;NM_031847;S76756;U01828;U34061;U89329;U89330 AAA03354;AAA59552;AAB33379;AAB48097;AAB48098;AAH38857;AAH66648;AAI10424;AAI17124;AAI43246;AAI72263;AAI72568;ADZ15552;BAD92567;BAF84135;EAW70453;EAW70454;EAW70455;EAW70456;EAW70457;EAW70458;EAW70459;EAW70460;EAW70461;EAW70462;EAW70463;EAW70464;NP_001034627;NP_002365;NP_114033;NP_114035;P11137 Hs.368281 1340822;1668836;1673085;1707018;1723337;1726571;1742475;1784208;1855844;2111095;2126945;2142702;2151849;2167025;5094892 D2S1366;D2S1369;D2S241E;G62667;GDB:197515;GDB:372046;MAP2;RH118485;RH48276;RH66399;SHGC-155562;SHGC-31054;SHGC-81013;STS-U01828;WI-14008 DKFZp686I2148;MAP2A;MAP2B;MAP2C MAP-2;OTTHUMP00000163915;OTTHUMP00000163916;OTTHUMP00000165185;OTTHUMP00000208143;OTTHUMP00000208144;microtubule-associated protein 2 APPROVED protein-coding ENSG00000078018 6839 01140 157130 REVIEWED 6480555 MAP2K4P1 mitogen-activated protein kinase kinase 4 pseudogene 1 X q13.2 72744111 72782921 - 12376211;14702039 139201 ABBA01059663;ABBA01059664;ABBA01059665;ABBA01059666;ABBA01059667;ABBA01059668;ABBA01059669;AF332564;AK056535;AL358796;AL450108;AMYH01022611;NR_029423 Hs.586477 1661525 RH70575 pseudo ENSG00000269904 43837 VALIDATED 732023 MAP2K1 mitogen-activated protein kinase kinase 1 The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] 15 15 q22.1-q22.33 64466679 64570936 + 66679211 66783882 + 1580863;1580093;1582169;1357969;1302505;1626216;2292630;2292631;2306052;2298686;2306053;2292627;2292629;5133243;5133242;6480464;6484113;6907045;7240710 16439621;10536014;12835716;10209122;17310240;18172299;12688676;15520221;18060073;12644821;10216485;7664295;21277552;20951313 20956560;21383288;22241220;10912793;10570282;19453261;19447520;19411838;19342664;19261809;19206169;19164283;19156172;19153083;19133693;19056740;19014680;19001375;18660489;18632602;18617556;18593598;18533112;18434598;18424438;18413255;18390968;18192500;18042262;17981815;8226933;8157000;8131746;7969158;7957875;7731720;7624324;7601337;1281467;12775419;12089333;9564043;16454711;15638726;11726657;10402467;9006895;11279118;8900182;10969079;8631303;15866172;14724641;15258589;17951252;17704260;17667937;17603482;17490600;17461449;17419998;17366577;17260965;17197157;17192257;17182854;17101779;17054908;17038630;16957420;16861903;16820947;16737746;16728640;16344560;16313339;16239230;16086581;15979847;15888452;15757891;15665520;15657590;15657353;15615716;15572374;15557124;15543157;15538402;15353548;15302887;15297310;15292274;15284233;15069060;15021912;15020233;14672918;14656894;14581471;12975377;12917419;12839928;12807433;12792650;12697810;12689928;12682854;12663662;12612059;12609978;12594221;12556561;12531514;12522145;12522135;12482669;12456688;12370306;12167619;12063167;12032872;11948406;11891225;11823456;11741894;11684694;11604401;11579140;11535599;11409852;11352917;11278389;11266467;11260070;11226259;11134045;11104681;11044439;11044099;10997882;10982368;10848576;10828601;10806207;10799874;10780709;10757792;10748187;10716983;10523642;10509564;10489373;10395327;9841871;9733512;9621077;9563949;9558095;9553107;9465908;9351825;9325171;9223324;8939914;8626767;8621729;8529659;8394352;8388392;15299019;11520933;22357202;22327936;21458501;20172001;21131601;19625741;19835659;10712923;11741534;11940661;12477932;15520859;16093354;16810323;17979178;18329369;19500021;19567590;19681119;19802003;19816936;19858308;20007706;20056645;20179161;20299489;20302979;20354455;9069267;9765203;15485920;15276183;18029348;20926789;20512084;20676060;20610816;20936779;20885957;21336309;22791812;21179471;21447798;21621846;21965271;21705440;21835307;10409742;19565474;21707777;16888650;17623298;19953087;21139048;21890473;21906983;21675959;22037177;22188669;22052387;22197931;22298595;19322201;9311917;21713404;20301303;22180573;22773810;14500727;15118098;18556463;18332145;20212043;22805291;22805292;23383273;12788955;16291755;22053931;23000965;23157514;23360980;22946047;22902540;22935974;15090600;22752157;23225884;23241949;16533805;18569454;20019835;20404718;20433920;21567396;22588879;23001481;22495818;22546605;22707717 5604 A4QPA9;H3BRW9;Q02750 ABBA01038819;ABBA01038820;ABBA01038821;ABBA01038822;AC011276;AC055855;AC116913;AK291500;AK294322;AK312356;AMYH01006722;AMYH01006723;BC137459;BC139729;BE856741;BG709050;CA419665;CH471082;DA653983;L05624;L11284;NG_008305;NM_002755 AAA36318;AAI37460;AAI39730;BAF84189;BAG57596;EAW77765;EAW77766;EAW77767;EAW77768;EAW77769;NP_002746;Q02750 Hs.145442 1336989;1684367;1685355;1797840;5493615 D15S534;MAP2K1_2178;RH28581;RH68988;UniSTS:489729 CFC3;MAPKK1;MEK1;MKK1;PRKMK1 ERK activator kinase 1;MAP kinase kinase 1;MAPK/ERK kinase 1;MAPKK 1;MEK 1;OTTHUMP00000164252;dual specificity mitogen-activated protein kinase kinase 1;mitogen activated protein kinase kinase 1;protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1) APPROVED protein-coding 6840 01469 115150;176872;615279 REVIEWED 1343460 MAP2K2 mitogen-activated protein kinase kinase 2 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 4041319 4075126 - 4090319 4124126 - 1580863;1626216;2298686;2292627;6480464;6484113;6907045;7240710 17310240;18060073;10216485 18424438;10509564;11909642;11520933;8388392;19496172;19453261;19447520;19206169;19164283;19156172;19014680;18617556;18413255;18390968;18042262;17981815;17704260;17603482;17461449;17419998;17366577;17192257;17101779;17081983;17038630;16964243;16957420;16651638;16439621;16332685;16239230;15979847;15543157;15489334;15302935;15292274;15284233;15071496;14702039;14672918;14656894;14517288;14499342;12839928;12792650;12612059;12582162;12531514;12505790;12482669;12477932;12167619;12063167;12032872;11823456;11579140;11409852;11260070;11134045;11104681;11044099;10982368;10862698;10828601;10799874;10780709;10489373;10224087;9915804;9781012;9733512;9671314;9621077;9563949;9558095;9427625;9325171;9223324;9159118;8702863;8668348;8626767;8529659;8393135;8226933;8157000;7839144;7687743;7566098;16103188;12775419;12089333;16454711;15638726;11726657;9006895;14724641;21178588;21458501;20172001;21447798;20936779;20358587;10712923;17380122;17643375;19500021;19681119;19816936;19858308;20302979;9069267;9808624;15276183;20837746;21445343;20885957;22895183;22990118;21615688;21365009;21509657;19565474;19850743;21969554;10409742;17623298;18624398;21139048;21906983;22197931;22298595;22052387;21675959;22185284;15118098;22805291;22805292;23455922;12788955;17979178;21525035;21890473;21963094;21988832;22902540;22935974;23000965;16533805;18569454;19884766;20404718;22053931 5605 G5E9C7;M0R1B6;P36507 AA312322;ABBA01056089;AC016586;AK093125;AK126446;AK129586;AMYH01009327;BC000471;BC018645;BX538081;CH471139;L11285;NG_007996;NM_030662 AAH00471;AAH18645;ABM84527;ABM85986;BAC85187;BAG52659;CAD98005;EAW69262;EAW69263;EAW69264;EAW69265;NP_109587;P36507 Hs.465627 1342050;1701108;2116458;2116640;5014051;5015404;5022651 D11S2921;D12S84;D8S2278;L17705;RH104182;RH12333;RH17501 CFC4;FLJ26075;MAPKK2;MEK2;MKK2;PRKMK2 ERK activator kinase 2;MAP kinase kinase 2;MAPK/ERK kinase 2;MAPKK 2;MEK 2;OTTHUMP00000165826;OTTHUMP00000165827;dual specificity mitogen-activated protein kinase kinase 2;mitogen-activated protein kinase kinase 2, p45 APPROVED protein-coding ENSG00000126934 6842 03164 115150;601263;615280 REVIEWED 1316000 MAP2K4 mitogen-activated protein kinase kinase 4 This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 p12 11864860 11987776 + 11924135 12047051 + 1580863;2289400;2293334;2293338;2306057;2293332;2298561;2298577;2293875;2293337;2293333;5490968;5490966;6480464;6484113;6907045 15592684;17577251;16489030;15665277;16627982;10051439;17064355;17306896;16322247;11306453;20699612;18772397 18408005;10713157;12659851;9808624;15299019;16533805;7716521;19351817;19265040;19012245;19001375;18713996;18436711;14511403;14504284;13130464;12788955;12730213;12714585;12556533;12477932;12456688;12391307;12368275;12223490;12220515;12189133;11836244;11754110;11707464;11346645;11104681;11090355;11062067;10715136;10521444;10489373;10187804;9841871;9761781;9661668;9622070;9582321;9405400;9331070;9182538;9162092;9006895;9002521;8786147;8755474;8631303;7997270;7839144;18337456;17675521;17389591;17322004;17178861;17158870;17009014;16964394;16802349;16709574;16388335;16339111;16197369;16167336;15911620;15737736;15670787;15623633;15496400;15328343;15262961;15256484;14716300;14702039;14661062;22335172;11279118;9207092;11562357;10523642;9712898;15866172;10969079;20554746;15299005;22366412;10620019;20309881;20732303;21822214;22158075;22318606;15276183;21048031;17110930;19351724;19513509;19610067;19638505;19861690;20156194;21030692;21372598;19593445;22828509;12429732;21487811;21518142;21575258;19737936;21896780;21925502;21832049;21900206;21915030;21638028;21702039;14581471;22154052;12228228;14500727;15258908;19782076;21988832;22952603;23355465;16344560;16472679;17541429;19294699;20801953;21333379;22535895;23299404;23877919;15998799;17906693;19302196;22154358;22526163;22730327 6416 J3KTI6;J3QLE2;J3QQP9;J3QQR2;K7EP58;P45985;R4GN37;R4GN68 AA293365;ABBA01054999;ABBA01055000;AC005244;AC005410;AF070082;AF070085;AF070088;AF070090;AK122997;AK131544;AK294923;AK313053;AK316100;AK316177;AMYH01008116;AU150695;BC036032;BC050386;BC060764;BQ028457;BT019676;CH471108;CR536564;DQ015703;L31902;L36870;NM_001281435;NM_003010;U17743 AAC24130;AAC41719;AAC50127;AAH36032;AAH60764;AAV38482;AAY22176;BAG35884;BAG54774;BAG58005;BAH14471;BAH14548;CAG38801;EAW89973;EAW89974;EAW89975;EAW89976;NP_001268364;NP_003001;P45985 Hs.514681 1661525;1682521;1783614;1796282;2133859;2144996;2162479;2174155;5014051;5022200;5022578;5022651;5037552 A003B48;D11S2921;D1S1423;D8S2278;D8S2279;L18426;MAP2K4_908;RH12704;RH46488;RH48101;RH70575;SHGC-171541;SHGC-35988 JNKK;JNKK1;MAPKK4;MEK4;MKK4;PRKMK4;SAPKK-1;SAPKK1;SEK1;SERK1;SKK1 JNK activating kinase 1;JNK-activated kinase 1;JNK-activating kinase 1;MAP kinase kinase 4;MAPK/ERK kinase 4;MAPKK 4;MEK 4;SAPK kinase 1;SAPK/ERK kinase 1;c-Jun N-terminal kinase kinase 1;dual specificity mitogen-activated protein kinase kinase 4;stress-activated protein kinase kinase 1 APPROVED protein-coding ENSG00000065559 6844 03213 601335 REVIEWED 733801 MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012] 5 5 q11.2 56146657 56227736 + 56110900 56191979 + 1580863;1357969;737800;2289657;2293875;2293879;2293357;2293356;6480464;6484113;6907045 12835716;9836645;17529967;17306896;9305638;17997823;18036273 9808624;15276183;10465784;19453261;19289468;19262425;19232126;19094228;19028704;18984593;18973230;18785201;18784253;18521924;18467339;18437204;18434448;18420486;18355772;18308848;18287093;18032450;17889508;17397260;17301822;16760432;16714289;16636664;16434970;16344560;16286467;16046415;16044153;15299005;15205333;14743216;14612408;14500727;12878610;12763138;12600818;12584189;12456688;12228228;12185592;12079429;12048245;11971971;11971970;11903060;11815602;11784851;11782455;11756439;11746500;10805784;10611349;9689078;9008162;8597633;10713157;11057907;10346818;9733714;19270716;21336309;9819420;20453838;10523642;9135144;11884395;10829020;9452471;9563508;10969079;9712898;9405400;15866172;12049732;15829968;21129722;14968112;15001576;17906693;19330030;19513748;19617217;19789366;19843670;20128690;20145138;20237344;20417875;19690564;19913121;20554749;20605201;20628086;20809358;15684388;20923779;20940704;19593445;21048223;21152872;22990118;21364884;21921033;21139048;21906983;22110214;20686565;17620599;12223491;14581471;22468730;12796506;16472679;23225170;21963094;22053931;23209189;15161980;16469706;21512573 4214 Q13233 AA602425;ABBA01015768;AC008937;AF042838;AK307828;AMYH01015098;BU194120;BX537527;DA889202;NG_031884;NM_005921;U29671 AAB05828;AAC97073;NP_005912;Q13233 Hs.653654 1649714;1718165;1799156;1799158;1799378;1800766;1801098;1801982;1802056;1803420;1803618;1803902;1805510;1805624;1805684;1806030;1806484;1808770;1808772;1808914;1809196;1809358;1809444;1809512;1810216;1811104;1811106;1811270;1811404;1811488;1814296;1814298;1814728;1814730;1814886;1815190;1815568;1816506;1816792;1817514;1818760;1818902;1819620;1820378;1820628;1820872;1821618;1822200;1822404;1823282;1823838;1824458;1824460;1824676;1824748;1825936;1826104;1826620;1827078;1827266;1828178;1829912;1830026;1830868;1831346;1831486;1831782;1832054;1832144;1833162;1834892;1835394;1835752;1836782;1837680;1837886;1837928;1839326;1839672;1841894;1842004;1842600;1842934;1845354;1845538;1858670;1914372;1914374;1914376;1914378;1914380;1914382;1914384;1914386;1914388;1914390;1914392;1914394;1914396;1914398;1914400;1914402;1914404;1914406;1914408;1914410;1914412;1914414;1914416;1914418;1914420;1914422;1914424;1914426;1914428;1914430;1914432;1914434;1914436;1914438;1914440;1914442;1914444;1914446;1914448;1914450;1914452;1914454;1914456;1914458;1914460;1914462;1914464;1914466;1914468;1914470;1914472;1914474;1914476;1914478;1914480;1914482;1914484;1914486;1914488;1914490;1914492;1914494;1914496;1914498;1914500;1914502;1914504;1914506;1914508;1914510;1914512;1914514;1914516;1914518;1914520;1914522;1914524;1914526;1914528;1914530;1914532;1914534;1914536;1914538;1914540;1914542;1914544;1914546;1914548;1914550;1914552;1914554;1914556;1914558;1914560;1914562;1914564;1914566;1914568;1914570;1914572;1914574;1914576;1914578;1914580;1914582;1914584;1914586;1914588;1914590;1914592;1914594;1914596;1914598;1914600;1914602;1914604;1914606;1914608;1914610;1914612;1914614;1914616;1914618;1914620;1914622;1914624;1914626;1914628;1914630;1914632;1914634;1914636;1914638;1914640;1914642;1914644;1914646;1914648;1914650;1914652;1914654;1914656;1914658;1914660;1914662;1914664;1914666;1914668;1914670;1914672;1914674;1914676;1914678;1914680;1914682;1914684;1914686;1914688;1914690;1914692;1914694;1914696;1914698;1914700;1914702;1914704;1914706;1914708;1914710;1914712;1914714;1914716;1914718;1914720;1914722;1914724;1914726;1914728;1914730;1914732;1914734;1914736;1914738;1914740;1914742;1914744;1914746;1914748;1914750;1914752;1914754;1914756;1914758;1914760;1914762;1914764;1914766;1914768;1914770;1914772;1914774;1914776;1914778;1914780;1914782;1914784;1914786;1914788;1914790;1914792;1914794;1914796;1914798;1914800;1914802;1914804;1914806;1914808;1914810;1914812;1914814;1914816;1914818;1914820;1914822;1914824;1914826;1914828;1914830;1914832;1914834;1914836;1914838;1914840;1914842;1914844;1914846;1914848;1914850;1914852;1914854;1914856;1914858;1914860;1914862;1914864;1914866;1914868;1914870;1914872;1914874;1914876;1914878;1914880;1914882;1914884;1914886;1914888;1914890;1914892;1914894;1914896;1914898;1914900;1914902;1914904;1914906;1914908;1914910;1914912;1914914;1914916;1914918;1914920;1914922;1914924;1914926;1914928;1914930;1914932;1914934;1914936;1914938;1914940;1914942;1914944;1914946;1914948;1914950;1914952;1914954;1914956;1914958;1914960;1914962;1914964;1914966;1914968;1914970;1914972;1914974;1914976;1914978;1914980;1914982;1914984;1914986;1914988;1914990;1914992;1914994;1914996;1914998;1915000;1915002;1915004;1915006;1915008;1915010;1915012;1915014;1915016;1915018;1915020;1915022;1915024;1915026;1915028;1915030;1915032;1915034;1915036;1915038;1915040;1915042;1915044;1915046;1915048;1915050;1915052;1915054;1915056;1915058;1915060;1915062;1915064;1915066;1915068;1915070;1915072;1915074;1915076;1915078;1915080;1915082;1915084;1915086;1915088;1915090;1915092;1915094;1915096;1915098;1915100;1915102;1915104;1915106;2205790;2205792;2205794;2205796;2205798;2205800;2205802;2205804;2205806;2205808;2205810;2205812;2205814;2205816;2205818;2205820;2205822;2205824;2205826;2205828;2205830;2205832;2205834;2205836;2205838;2205840;2205842;2205844;2205846;2205848;2205850;2205852;2205854;2205856;2205858;2205860;2205862;2205864;2205866;2205868;2205870;2205872;2205874;2205876;2205878;2205880;2205882;2205884;2205886;2205888;2205890;2205892;2205894;2205896;2205898;2205900;2205902;2205904;2205906;2205908;2205910;2205912;2205914;2205916;2205918;2217588 ECD00424;ECD00425;ECD00539;ECD01245;ECD01418;ECD01872;ECD01909;ECD02607;ECD02715;ECD02864;ECD03703;ECD03762;ECD03792;ECD03968;ECD04199;ECD05368;ECD05369;ECD05440;ECD05588;ECD05670;ECD05714;ECD05748;ECD06100;ECD06550;ECD06551;ECD06633;ECD06700;ECD06744;ECD08177;ECD08178;ECD08395;ECD08396;ECD08474;ECD08630;ECD08820;ECD09295;ECD09442;ECD09807;ECD10444;ECD10515;ECD10877;ECD11264;ECD11389;ECD11512;ECD11895;ECD12186;ECD12290;ECD12730;ECD13011;ECD13327;ECD13328;ECD13436;ECD13472;ECD14077;ECD14161;ECD14424;ECD14654;ECD14748;ECD15214;ECD16089;ECD16146;ECD16570;ECD16809;ECD16880;ECD17028;ECD17165;ECD17210;ECD17723;ECD18596;ECD18852;ECD19037;ECD19555;ECD20007;ECD20113;ECD20135;ECD20844;ECD21019;ECD22149;ECD22205;ECD22507;ECD22675;ECD23894;ECD23987;ECD24536;MAP3K1_3196;REN27995;REN27996;REN27997;REN27998;REN27999;REN28000;REN28001;REN28002;REN28003;REN28004;REN28005;REN28006;REN28007;REN28008;REN28009;REN28010;REN28011;REN28012;REN28013;REN28014;REN28015;REN28016;REN28017;REN28018;REN28019;REN28020;REN28021;REN28022;REN28023;REN28024;REN28025;REN28026;REN28027;REN28028;REN28029;REN28030;REN28031;REN28032;REN28033;REN28034;REN28035;REN28036;REN28037;REN28038;REN28039;REN28040;REN28041;REN28042;REN28043;REN28044;REN28045;REN28046;REN28047;REN28048;REN28049;REN28050;REN28051;REN28052;REN28053;REN28054;REN28055;REN28056;REN28057;REN28058;REN28059;REN28060;REN28061;REN28062;REN28063;REN28064;REN28065;REN28066;REN28067;REN28068;REN28069;REN28070;REN28071;REN28072;REN28073;REN28074;REN28075;REN28076;REN28077;REN28078;REN28079;REN28080;REN28081;REN28082;REN28083;REN28084;REN28085;REN28086;REN28087;REN28088;REN28089;REN28090;REN28091;REN28093;REN28094;REN28095;REN28096;REN28097;REN28098;REN28099;REN28100;REN28101;REN28102;REN28103;REN28104;REN28105;REN28106;REN28107;REN28108;REN28109;REN28110;REN28111;REN28112;REN28113;REN28114;REN28115;REN28116;REN28117;REN28118;REN28119;REN28120;REN28121;REN28122;REN28123;REN28124;REN28125;REN28126;REN28127;REN28128;REN28129;REN28130;REN28131;REN28132;REN28133;REN28134;REN28135;REN28136;REN28137;REN28138;REN28139;REN28140;REN28141;REN28142;REN28143;REN28144;REN28145;REN28146;REN28147;REN28148;REN28149;REN28150;REN28151;REN28152;REN28153;REN28154;REN28155;REN28156;REN28157;REN28158;REN28159;REN28160;REN28161;REN28162;REN28163;REN28164;REN28165;REN28166;REN28167;REN28168;REN28169;REN28170;REN28171;REN28172;REN28173;REN28174;REN28175;REN28176;REN28177;REN28178;REN28179;REN28180;REN28181;REN28182;REN28183;REN28184;REN28185;REN28186;REN28187;REN28188;REN28189;REN28190;REN28191;REN28192;REN28193;REN28194;REN28195;REN28196;REN28197;REN28198;REN28199;REN28200;REN28201;REN28202;REN28203;REN28204;REN28205;REN28206;REN28207;REN28208;REN28209;REN28210;REN28211;REN28212;REN28213;REN28214;REN28215;REN28216;REN28217;REN28218;REN28219;REN28220;REN28221;REN28222;REN28223;REN28224;REN28225;REN28226;REN28227;REN28228;REN28229;REN28230;REN28231;REN28232;REN28233;REN28234;REN28235;REN28236;REN28237;REN28238;REN28239;REN28240;REN28241;REN28242;REN28243;REN28244;REN28245;REN28246;REN28247;REN28248;REN28249;REN28250;REN28251;REN28252;REN28253;REN28254;REN28255;REN28256;REN28257;REN28258;REN28259;REN28260;REN28261;REN28262;REN28263;REN28264;REN28265;REN28266;REN28267;REN28268;REN28269;REN28270;REN28271;REN28272;REN28273;REN28274;REN28275;REN28276;REN28277;REN28278;REN28279;REN28280;REN28281;REN28282;REN28283;REN28284;REN28285;REN28286;REN28287;REN28288;REN28289;REN28290;REN28291;REN28292;REN28293;REN28294;REN28295;REN28296;REN28297;REN28298;REN28299;REN28300;REN28301;REN28302;REN28303;REN28304;REN28305;REN28306;REN28307;REN28308;REN28309;REN28310;REN28311;REN28312;REN28313;REN28314;REN28315;REN28316;REN28317;REN28318;REN28319;REN28320;REN28321;REN28322;REN28323;REN28324;REN28325;REN28326;REN28327;REN28328;REN28329;REN28330;REN28331;REN28332;REN28333;REN28334;REN28335;REN28336;REN28337;REN28338;REN28339;REN28340;REN28341;REN28342;REN28343;REN28344;REN28345;REN28346;REN28347;REN28348;REN28349;REN28350;REN28351;REN28352;REN28353;REN28354;REN28355;REN28356;REN28357;REN28358;REN28359;REN28360;REN28361;REN28362;REN28363;RH122850;RH70595;stSG625092;stSG625095;stSG625096;stSG625097;stSG625098;stSG625099;stSG625100;stSG625101;stSG625102;stSG625103;stSG625104;stSG625105;stSG625106;stSG625107;stSG625108;stSG625109;stSG625110;stSG625111;stSG625112;stSG625113;stSG625114;stSG625115;stSG625116;stSG625117;stSG625118;stSG625119;stSG625120;stSG625122;stSG625123;stSG625124;stSG625125;stSG625126;stSG625127;stSG625128;stSG625129;stSG625130;stSG625131;stSG625132;stSG625133;stSG625134;stSG625135;stSG625136;stSG625137;stSG625138;stSG625139;stSG625140;stSG625141;stSG625142;stSG625143;stSG625144;stSG625145;stSG625146;stSG625147;stSG625148;stSG625149;stSG625150;stSG625151;stSG625152;stSG625153;stSG625154;stSG625155;stSG625156;stSG625157;stSG625158;stSG625159 MAPKKK1;MEKK;MEKK 1;MEKK1;SRXY6 MAP/ERK kinase kinase 1;MAPK/ERK kinase kinase 1;MEK kinase 1;MEKK 1;OTTHUMP00000065818;mitogen-activated protein kinase kinase kinase 1 APPROVED protein-coding ENSG00000095015 6848 600982;613762 REVIEWED 732805 MAP2K6 mitogen-activated protein kinase kinase 6 This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008] 17 17 q24.3 64922433 65050065 + 67410838 67538470 + 1582277;1302548;1580863;1582275;2293334;2293337;2298758;2293338;2293891;6480464;6484113;6907045 15492008;11593045;15722372;17577251;16322247;16183734;16489030;17481747 22569225;10848581;12761180;8621675;19234473;19141286;19047046;18327563;16960152;16728640;16498455;16344560;16342939;16313339;15866172;15790570;15778394;15677464;15550393;15516490;15489334;15375157;12589052;12509443;12477932;12054652;11971971;11836244;11727828;11460167;11279118;11104681;11062067;10961885;10570156;10497253;9841871;9768359;9430721;9218798;8861944;8663074;8626699;8622669;8125298;7750576;14633987;10838074;10094049;11562357;12820963;11689443;12697810;11062068;12242293;16157600;21368234;19913121;20628086;19846005;19672773;20162623;20364819;9808624;15276183;15923648;20869211;21078955;20805296;16893890;21308746;20213747;22383536;15717329;17255949;19675569;19737936;20932476;21139048;21926646;22164285;12609980;15590691;17384642;17079228;15764709;19302196;20067578;22154358 5608 A8K3Y2;K7EIW3;K7ELM6;P52564 AA932919;AB451252;AB451376;ABBA01028938;ABBA01028939;ABBA01028940;ABBA01028941;ABBA01028942;ABBA01028943;ABBA01028944;AC002546;AC015920;AK225719;AK290747;AMYH01008597;BC012009;BX641121;CH471099;D87905;DB111443;EU332850;NG_029437;NM_002758;U39064;U39065;U39656;U39657;U49732;X96757 AAB03705;AAB03708;AAB05035;AAC50388;AAC50389;AAH12009;ABM82414;ABM85599;ABY87539;BAA13496;BAF83436;BAG70066;BAG70190;CAA65532;CAE46056;EAW89084;EAW89085;EAW89086;NP_002749;P52564 Hs.463978 1336518;1736628;1774617;1849160;1849162;5021351 A005K40;D17S1471E;D17S1526;D17S1786;G20292;MARC_24286-24287:1044369540:1 MAPKK6;MEK6;MKK6;PRKMK6;SAPKK-3;SAPKK3 MAP kinase kinase 6;MAPK/ERK kinase 6;MAPKK 6;MEK 6;SAPK kinase 3;dual specificity mitogen-activated protein kinase kinase 6;protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6);stress-activated protein kinase kinase 3 APPROVED protein-coding 6846 03155 601254 REVIEWED 1315342 MAP2K3 mitogen-activated protein kinase kinase 3 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2 21128561 21159145 + 21187968 21218552 + 1580863;1641940;2293891;2298758;6480464;6484113;6907045 17406030;17481747;16183734 7839144;11980910;19047046;17438131;16728640;16709574;16344560;15797859;15778394;15677464;15516490;15489334;15375157;14702039;13679851;12589052;12477932;12377770;12054652;12024021;11971971;11414763;11279172;11279118;11181995;11062067;10997882;10856288;10497253;9841871;9786855;9768359;9465908;9038352;8900184;8626699;8622669;8226933;8125298;7750576;11562357;11062068;15866172;21137025;12761180;19672773;15276183;16341674;20805296;21048031;21368234;20213747;21832049;21206905;22623531;17255949;19737936;21139048;21890473;21900206;21906983;22164285;21044950;9162092;21963094;21988832;22696064;23000965;19302196;20067578;20173330;22154358;22505724 5606 E9PMA8;E9PRZ0;J3KRV4;J3QL77;J3QR49;P46734;Q6FI23 AB451226;AB451349;ABBA01050464;AC087294;AI758302;AK093838;AK223490;AK315505;AMYH01008269;BC032478;BM836867;CH879350;CR536514;CR541793;D87116;DA131175;DA987047;GQ225578;L36719;NG_028256;NM_002756;NM_145109;U66839;U66840 AAB40652;AAB40653;AAC41718;AAH32478;ABM85114;ACT33197;BAA13248;BAD97210;BAG37889;BAG52769;BAG70040;BAG70163;CAG38752;CAG46592;EAW50386;NP_002747;NP_659731;P46734 Hs.514012 1657998;1686258;1796280 D17S624;MAP2K3_360;RH69047 MAPKK3;MEK3;MKK3;PRKMK3;SAPKK-2;SAPKK2 MAP kinase kinase 3;MAPK/ERK kinase 3;MAPKK 3;MEK 3;OTTHUMP00000166043;OTTHUMP00000166044;SAPK kinase 2;dual specificity mitogen-activated protein kinase kinase 3;mitogen activated protein kinase kinase 3;stress-activated protein kinase kinase 2 APPROVED protein-coding ENSG00000034152 6843 03816 602315 REVIEWED 1347407 MAP2K7 mitogen-activated protein kinase kinase 7 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found, but only one transcript variant has been supported and defined. [provided by RefSeq, Jul 2008] 19 19 p13.3-p13.2 7874765 7885363 + 7968765 7979363 + 1580863;2293334;2293337;2298567;2298561;2293875;2298577;2293338;6480464;6484113;6907045 17577251;16322247;15680699;10051439;17306896;17064355;16489030 9535930;15299019;14697235;18713996;18436711;18343408;18222647;17485467;16802349;16533805;16442502;15489334;13130464;12477932;12220515;11891214;11390361;11318610;11274363;11104681;9661668;9488659;9372971;9312068;9207092;16243842;12138158;10756100;10490659;15465036;14743220;11959862;11959861;12189133;10629060;10713157;10187804;11062067;11836244;15866172;15001580;15753034;12659851;10347227;10969079;21148294;11726277;14968112;16169070;16313339;16456539;17110930;18286207;20156194;15276183;17189706;19910486;22267733;16840345;22903704;21749326;21074392;22623531;19737936;21139048;21890473;21906983;22159816;22509080;19322201;14500727;22899651;19302196;20067578;22154358;22505724 5609 F6WCX7;Q8IY10 ABBA01010877;ABBA01010878;AC010336;AF003199;AF006689;AF013588;AF013589;AF014401;AF022805;AK098807;AK300988;AK313899;AMYH01009416;AMYH01009417;AMYH01009418;BC005365;BC038295;CH471139;DQ445915;NG_029438;NM_145185 AAB63374;AAB88048;AAB97813;AAC16272;AAC16273;AAC26142;AAH38295;ABE03013;ABM82200;ABM85388;BAG36622;BAG62607;EAW68962;EAW68963;EAW68964;EAW68965;EAW68966;EAW68967;EAW68968;NP_660186;O14733 Hs.531754 1694744;1751431;2167770;5015961;5022161;5037552;5109281 D15S1477;D1S1425;D8S2279;G43572;RH65754;SHGC-105254;WI-17148 Jnkk2;MAPKK7;MKK7;PRKMK7;SAPKK-4;SAPKK4 JNK kinase 2;JNK-activating kinase 2;JNKK 2;MAP kinase kinase 7;MAPK/ERK kinase 7;MAPKK 7;MEK 7;OTTHUMP00000174396;OTTHUMP00000174397;OTTHUMP00000174398;SAPK kinase 4;c-Jun N-terminal kinase kinase 2;dual specificity mitogen-activated protein kinase kinase 7;stress-activated protein kinase kinase 4 APPROVED protein-coding ENSG00000076984 6847 603014 REVIEWED 735708 MAP2K5 mitogen-activated protein kinase kinase 5 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011] 15 15 q23 65622075 65886506 + 67835021 68099455 + 1580866;1580863;1582271;2298795;1582263;2298532;6480464;6907045 11387209;12860565;12618764;15631999;16376520 7759517;17474147;19279021;19223043;18071319;17872495;17637780;16728640;15489334;15378007;15075238;14743216;14702039;14583600;12477932;12219026;11520859;11158308;11073940;10593883;10531364;9790194;9384584;7499418;12813044;12659851;12628002;19913121;20628086;21166929;12842996;16730941;19605361;19822783;20396431;16758967;20936779;15805119;20935630;8889548;22594783;21767578;21820407;19903815;21900206;21925394;21861603;21779176;22344219;18588859 5607 A6NK28;H7BZL1;Q13163 ABBA01038790;ABBA01038791;ABBA01038792;ABBA01038793;ABBA01038794;ABBA01038795;ABBA01038796;ABBA01038797;ABBA01038798;ABBA01038799;AC009292;AC016355;AC103753;AK024766;AK057521;AK293459;AK315435;AMYH01006733;AMYH01006734;BC008838;BI460343;BM682675;BT006780;CH471082;CR542229;DN998338;HH961878;NG_029143;NM_001206804;NM_002757;NM_145160;U71087;U71088 AAB16851;AAB16852;AAH08838;AAP35426;ADZ15346;BAG37823;BAG51927;BAG56954;CAG47025;CBX51412;EAW77799;EAW77800;EAW77801;EAW77802;NP_001193733;NP_002748;NP_660143;Q13163 Hs.114198 1340701;1659285;1697076;1727617;1764103;1783282;1783296;1852568;2114176;2128059;2144910;2148613;2178398;2191789;5126347 AFM276YB5;BCD1447;D15S1015;D15S1220;D15S1242;G63218;MARC_7855-7856:996688103:1;RH102019;RH67871;SHGC-147756;SHGC-156118;SHGC-172623;SHGC-34905;STS-H66629;WI-19238 HsT17454;MAPKK5;MEK5;PRKMK5 MAP kinase kinase 5;MAP kinase kinase MEK5b;MAPK/ERK kinase 5;MAPKK 5;MEK 5;OTTHUMP00000164363;dual specificity mitogen-activated protein kinase kinase 5 APPROVED protein-coding ENSG00000137764 6845 03951 602520 REVIEWED 1318115 MAP3K10 mitogen-activated protein kinase kinase kinase 10 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008] 19 19 q13.2 45389491 45413314 + 40697651 40721482 + 1580863;2293875;6480464;6484113 17306896 9516438;8195146;10801775;19332348;17584736;17121608;15753034;15062575;14504284;12477932;12105200;11850617;11416147;11152698;11076863;9742220;9629920;9182538;9427749;8536694;8477742;7731697;19019082;10490659;12881483;19801649;20596961;20936779;18455992;21979919;21678419;23178452 4294 M0R0A7;M0R1J8;M0R365;Q02779 ABBA01040744;ABBA01040745;ABBA01040746;AC011496;AC118344;AMYH01009798;AMYH01009799;BF594729;BU633407;CH471126;NM_002446;X90846;Z48615 AAI11461;CAA62351;CAA88531;EAW56937;NP_002437;Q02779 Hs.466743 1797842;2128222 MAP3K10_3063;RH66451 MEKK10;MLK2;MST MKN28 derived nonreceptor_type serine/threonine kinase;MKN28 kinase;mitogen-activated protein kinase kinase kinase 10;mixed lineage kinase 2;protein kinase MST APPROVED protein-coding ENSG00000130758 6849 02533 600137 REVIEWED 1345894 MAP3K15 mitogen-activated protein kinase kinase kinase 15 The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010] X X X p22.12 23499514 23656927 - 19288095 19410315 - 19378176 19533379 - 6480464 18029348;15772651;14702039;15146197;20362554;20562859;21139048 389840 E7EWI5;Q6ZN16 ABBA01071752;ABBA01071753;ABBA01071754;ABBA01071755;ABBA01071756;ABBA01071757;ABBA01071758;ABBA01071759;ABBA01071760;ABBA01071761;ABBA01071762;ABBA01071763;ABBA01071764;ABBA01071765;ABBA01071766;ABBA01071767;ABBA01071768;ABBA01071769;ABBA01071770;ABBA01071771;ABBA01071772;ABBA01071773;ABBA01071774;ABBA01071775;AK122632;AK131412;AK131477;AL732326;AL732423;AMYH01022126;AMYH01022127;AMYH01022128;CH471074;CN293540;DV080548;NG_021184;NM_001001671 BAD18559;BAD18622;BAG53631;EAW98962;EAW98963;NP_001001671;Q6ZN16 Hs.713701 1337599;1645303;1676490;1689646;1701976;1759523;1787230;1791205;1791215;1791227;2145660;5015861;5016478;5020881;5022578;7185938 345L8_T7;442A14_T7;501O24_SP6;D10S16;D1S1423;DXS7592;DXS9734;GDB:434012;GDB:438035;L17709;RH65815;RH81017;RH93821;SHGC-112075;SHGC-152957 ASK3;FLJ16518;bA723P2.3 MAPK/ERK kinase kinase 15;MEK kinase 15;MEKK 15;OTTHUMP00000183505;OTTHUMP00000224565;apoptosis signal-regulating kinase 3;mitogen-activated protein kinase kinase kinase 15 APPROVED protein-coding ENSG00000180815 31689 14359 300820 VALIDATED 6893004 MAP3K14-AS1 MAP3K14 antisense RNA 1 17 q21.31 43325303 43345997 + 12477932;14702039 100133991 ABBA01028318;AC003963;AC008105;AK097219;AK311429;AK311564;AMYH01008442;BC031942;CH471178;NR_024434;NR_024435 EAW51531 Hs.668927 1648004;1656743;1664379;1849938;1857718;2165470 RH11891;SHGC-32453;SHGC-7073;STS-D29513;STS-Y10256;WI-16011 miscrna ENSG00000267278 44359 VALIDATED 737536 MAP3K12 mitogen-activated protein kinase kinase kinase 12 This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010] 12 12 q13 52160547 52179538 - 53874276 53893444 - 1580863;2293875;6480464;6907045 17306896 16169070;14697235;9353328;7983011;8663324;19146952;18995835;15695824;15611134;15489334;14702039;14504284;12477932;10922377;10801814;10490457;10442638;10187804;8637721;8037767;7790002;10490659;19675578;19730683;19851984;20029029;21526495;21893036;21139048;21900206;19322201;22505724 7786 F8VUG4;H3BMF0;Q12852 AB209453;ABBA01008341;ABBA01008342;ABBA01008343;AC023509;AF283475;AK094195;AK314530;AMYH01004482;BC037585;BC050050;CH471054;NM_001193511;NM_006301;U07358 AAA67343;AAH50050;AAL67158;BAD92690;BAG52841;EAW96712;EAW96713;EAW96714;EAW96715;EAW96716;NP_001180440;NP_006292;Q12852 Hs.713539 1340023;1650453;1715357;1745099;2145852;5022651;5109281;5492168 D11S2921;D12S1618;D12S2095;D1S1425;G15864;GDB:593999;PMC87148P1;RH120510 DLK;MEKK12;MUK;ZPK;ZPKP1 MAPK-upstream kinase;OTTHUMP00000242300;OTTHUMP00000242301;OTTHUMP00000242302;dual leucine zipper bearing kinase;dual leucine zipper kinase DLK;leucine zipper protein kinase;leucine-zipper protein kinase;mitogen-activated protein kinase kinase kinase 12;mixed lineage kinase;protein kinase MUK;zipper protein kinase APPROVED protein-coding ENSG00000139625 6851 02709 600447 REVIEWED 1347603 MAP3K11 mitogen-activated protein kinase kinase kinase 11 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008] 11 11 q13.1-q13.3 65121802 65138296 - 65365226 65381720 - 1580863;2298577;2298567;2293875;2293876;6480464;6484113;6907045;7240533 17064355;15680699;17306896;8910292;20626350 15069087;11784851;9829970;8195146;15258589;12529434;18851832;18222647;17711861;17584736;17192257;16964243;16687404;16537381;16344560;16253996;15923109;15489334;22139075;15001580;14702039;14504284;12504027;12477932;12458207;12376551;11969422;11713255;11590155;11306803;11053428;10799501;10713178;10629060;10490659;10187804;9430657;9427749;9267807;8183572;8125298;12354290;12190962;11152698;16456539;19586614;19782705;19955118;20145118;20150185;20158498;20936779;20514022;20937558;20890305;22761715;21979919;18624398;21880738;22118674;22509080;22652451;22078707;22318606;22566623;23172226;20368287;21988832;19546888;22700880 4296 B4DS76;E9PID4;E9PLB1;E9PRQ2;H0YCF5;Q16584 AB209655;ABBA01024108;AK057256;AK090614;AK092015;AK222781;AK299609;AK315557;AK316032;AMYH01003723;AP001362;AU119082;BC011263;BC064543;CH471076;CS079388;L32976;NM_002419;U07747 AAA19647;AAA59859;AAH11263;AAH64543;BAD92892;BAD96501;BAG37933;BAG51893;BAG52196;BAG61538;BAH14403;CAI94235;EAW74417;EAW74418;NP_002410;Q16584 Hs.502872 1662074;1767242;1791546;1795008;1796284;2124385;2136933;2161341;2167397;2191217;5015961;5022322;5022578;5037744 D11S2560;D11S4583;D15S1477;D1S1423;D1S3694;G33123;G33125;MAP3K11_1779;MARC_16324-16325:1017678844:1;MLK3;PMC114715P1;PMC87148P2;STS-R80779;WI-16754 MEKK11;MGC17114;MLK-3;MLK3;PTK1;SPRK OTTHUMP00000233249;OTTHUMP00000233268;SH3 domain-containing proline-rich kinase;mitogen-activated protein kinase kinase kinase 11;mixed lineage kinase 3;protein-tyrosine kinase PTK1;src-homology 3 domain-containing proline-rich kinase APPROVED protein-coding ENSG00000173327 6850 02502 600050 REVIEWED 1351586 MAP3K13 mitogen-activated protein kinase kinase kinase 13 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008] 3 3 3 q27 183526871 183646121 + 186563664 186683322 + 185000729 185206882 + 1580863;2293875;6480464;6907045 17306896 11726277;11163770;9353328;12492477;15489334;12477932;12186766;8274451;14702039;22837378;20379614;22623531 9175 C9IYH2;C9J4W2;C9JP65;F8WF41;H7C459;Q2NKN3 AB001872;ABBA01058419;ABBA01058420;ABBA01058421;ABBA01058422;ABBA01058423;ABBA01058424;ABBA01058425;AC099661;AC128680;AC132516;AI690808;AK123148;AK296961;AK297646;AK302951;AK312714;AMYH01013727;AMYH01013728;BC015996;BC031677;BC036593;BC111726;BQ432918;CH471052;NM_001242314;NM_001242317;NM_004721;NR_038322;Z25428 AAH31677;AAI11727;BAA24817;BAG35589;BAG59505;BAG60014;BAG64106;CAA80915;EAW78224;EAW78225;NP_001229243;NP_001229246;NP_004712;O43283 Hs.591306;Hs.634586 1656530;1688744;1697334;1744317;1774118;1851759;2138203;2179897;5022200;5037552 D8S2279;GDB:451670;L18426;RH102164;RH16526;RH65816;RH81085;SHGC-35912;SHGC-36455;SHGC-77628 LZK;MEKK13;MGC133196;MLK MLK;OTTHUMP00000210395;OTTHUMP00000210397;OTTHUMP00000210398;OTTHUMP00000210400;leucine zipper-bearing kinase;mitogen-activated protein kinase kinase kinase 13;mixed lineage kinase APPROVED protein-coding ENSG00000073803 6852 05372 604915 REVIEWED 1604798 MAP3K19 mitogen-activated protein kinase kinase kinase 19 2 2 2 q21.3 129435196 129495171 - 135438743 135498718 - 135722273 135782248 - 15815621;15489334;14702039;12477932 80122 A8MWG7;B7ZMH9;C9JEJ9;C9JGQ2;H7C041;Q56UN5 ABBA01028188;AC016725;AC020602;AK026727;AK097522;AK122935;AK131216;AK309454;AMYH01011118;AY574901;AY574902;AY574903;AY574904;AY574905;BC034417;BC137276;BC137277;BC144555;BG484791;CH471058;NM_001018046;NM_025052 AAH34417;AAI37277;AAI37278;AAI44556;AAT81410;AAT81411;AAT81412;AAT81413;AAT81414;AAY14999;BAB15538;EAX11642;EAX11643;NP_001018056;NP_079328;Q56UN5 Hs.659395 1644808;1696526;1722549;2134766;5015619;5022651;5037552 D11S2921;D11S3114;D8S2279;G16468;G60202;RH46022;SHGC-83250 FLJ23074;RCK;YSK4 OTTHUMP00000082723;OTTHUMP00000083261;OTTHUMP00000083262;OTTHUMP00000083263;OTTHUMP00000083264;SPS1/STE20-related protein kinase YSK4;YSK4 Sps1/Ste20-related kinase homolog;mitogen-activated protein kinase kinase kinase 19;regulated in COPD kinase;regulated in COPD, protein kinase;yeast Sps1/Ste20-related kinase 4 APPROVED protein-coding ENSG00000176601 26249 08016 VALIDATED 1321416 MAP3K14 mitogen-activated protein kinase kinase kinase 14 This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008] 17 17 q21 40696271 40750197 - 43340488 43394414 - 1580863;2292172;6480464;6484113;6907045 18267068 20501937;9520446;10094049;10733566;11035039;12874243;16286467;18022362;19453261;19262425;18752500;18439422;18434448;18056702;17729113;17543278;16344560;16009713;15489334;15252129;15208311;15084608;14743216;14743126;12853971;12477932;12393548;12049732;11801607;11585904;11511100;11278268;11239468;11116146;11002417;10887201;10779355;10521444;10195894;10072079;10022904;9927690;9819420;9799091;9751059;9742107;9689078;9346485;9275204;9244310;9020361;10921914;20184394;20385093;21833088;22105365;20125184;20735436;21048031;17158868;20682767;20937806;20466000;15001576;19641626;19641890;19646419;19897484;19909783;20348096;21273489;10807933;12185077;20338663;21257964;19593445;21846802;21869881;21887257;21900206;18029348;17620599;22474019;22469134;21906983;22968463;17563756;21963849;21963094;22685329;22939624;20804734;22718757 9020 Q99558 AA564389;ABBA01028318;AC003070;AC003963;AC008105;AK123696;AK131438;AK290203;AK313085;AMYH01008442;BC022296;BC035576;BE645094;BU623799;CH471178;CR749592;DA856801;DQ314874;NM_003954;Y10256 AAH35576;ABC40733;ABM84990;BAD18584;BAF82892;CAA71306;CAH18391;EAW51529;EAW51530;NP_003945;Q99558 Hs.404183;Hs.735695 1648004;1656743;1679750;1796286;2157829;2165470;5015322;5015861;5015961;5019070;5020946;5022576;5022651;5024413;5037552;5109281;7185938 D10S16;D10S512;D11S2921;D15S1477;D1S1361;D1S1425;D8S2279;G44334;L17877;L17971;MAP3K14_912;RH15917;RH92291;SHGC-32453;STS-D29513;STS-Y10256 FTDCR1B;HS;HSNIK;NIK NF-kappa-beta-inducing kinase;mitogen-activated protein kinase kinase kinase 14;serine/threonine protein-kinase;serine/threonine-protein kinase NIK APPROVED protein-coding 6853 05230 604655 REVIEWED 1354206 MAP3K2 mitogen-activated protein kinase kinase kinase 2 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008] 2 2 q14.3 127778609 127817240 - 128056245 128100805 - 1580863;2293875;2293879;2298532;6480464;6907045 17306896;9305638;16376520 8621389;19289468;18761086;17192257;16001074;15988011;15815621;15075238;14734742;14702039;12477932;11032806;10818102;10713157;10085062;9452471;11073940;15778465;15324660;12912994;7997270;12659851;19318350;22139075;12640115;14681216;15001576;15820682;17906693;19690195;19773279;9372971;20098747;20936779;20830310;19593445;14515274;19903815;21804577;19953087;21139048;21890473;21906983;20588253;9162092;22505724 10746 F8W6K3;Q9Y2U5 AB208963;ABBA01040208;ABBA01040209;AC068282;AC110926;AF111105;AF239798;AI760702;AK027345;AK074577;AK075004;AK093893;AK315007;AMYH01011018;BC065755;BC136293;BM470563;BQ423724;CH471103;CS116757;NM_006609;W07290 AAD28547;AAF63496;AAH65755;AAI36294;AAY15043;AAY15070;BAB55050;BAC11348;BAD92200;CAJ15104;EAW95315;EAW95316;NP_006600;Q9Y2U5 Hs.744145 1339366;1659308;1663801;1686865;1697258;1730389;2167378;2179308;5019753;5112149 A009P05;D2S2271;D3S3285E;G32724;RH101970;RH102123;RH71143;RH91915;SHGC-56784;SHGC-58044 MEKK2;MEKK2B MAP/ERK kinase kinase 2;MAPK/ERK kinase kinase 2;MEK kinase 2;MEKK 2;OTTHUMP00000203817;OTTHUMP00000203818;mitogen-activated protein kinase kinase kinase 2 APPROVED protein-coding ENSG00000169967 6854 10068 609487 REVIEWED 1322520 MAP3K4 mitogen-activated protein kinase kinase kinase 4 The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Two alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 q26 161332812 161458407 + 161412822 161538417 + 1580863;2293875;2293879;6480464;6484113;6907045;7240533 17306896;9305638;20626350 16256071;9305639;17496914;16157600;15881658;15601262;15262978;14702039;12878610;12477932;12052864;11498536;9841871;9827804;9482735;9079650;9039502;7566098;15866172;22773346;14743220;14968112;19270716;20624154;20221403;20936779;21152872;22309839;21097508;22732089 4216 F5H1X6;F5H2S6;F5H4R1;F5H534;F5H538;J3KNB8;Q9P1M2;Q9Y6R4 AA314177;ABBA01015151;AF002715;AF116604;AK124430;AK307866;AL109942;AL139393;AL591045;AL596452;AMYH01016820;BC136276;BC143735;BC143743;BC143750;BC146770;BQ009477;CH471051;D86968;NM_005922;NM_006724 AAB68804;AAF71029;AAI36277;AAI43736;AAI46771;BAA13204;EAW47586;EAW47587;NP_005913;NP_006715;Q9Y6R4 Hs.390428 1656475;1669543;1721397;1770362;1772665;1780200;2149112;2153671;2153673;2217590;5017875 G59700;MAP3K4;MAP3K4_3336;RH25424;RH46613;RH46673;RH46702;SHGC-154618;SHGC-30412;STS-H27759;WI-18238 FLJ42439;KIAA0213;MAPKKK4;MEKK4;MTK1;PRO0412 MAP three kinase 1;MAP/ERK kinase kinase 4;MAPK/ERK kinase kinase 4;MEK kinase 4;MEKK 4;OTTHUMP00000017559;OTTHUMP00000017560;OTTHUMP00000239074;OTTHUMP00000239075;OTTHUMP00000239076;SSK2/SSK22 MAP kinase kinase kinase, yeast, homolog of;dJ473J16.1 (mitogen-activated protein kinase kinase kinase 4);mitogen-activated protein kinase kinase kinase 4;predicted protein of HQ0412 APPROVED protein-coding ENSG00000085511 6856 03886 602425 REVIEWED 1312170 MAP3K6 mitogen-activated protein kinase kinase kinase 6 This gene encodes a member of the serine/threonine protein kinase family. The encoded kinase was identified by its interaction with MAP3K5/ASK, a protein kinase and an activator of c-Jun kinase (MAPK7/JNK) and MAPK14/p38 kinase. This kinase was found to weakly activate MAPK7, but not MAPK1/ERK or MAPK14. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 26078953 26090620 - 27554257 27565924 - 27681670 27693337 - 1580863;6480464;6484113;6907045 9875215;19246638;18327563;17210579;12477932;11689443;20562859;19913121;20628086;21987572;21139048;21906983 9064 H0Y894;H0Y8A3;JE0363;O95382 AB167411;AB208805;ABBA01034970;AF100318;AI582755;AI658745;AL663123;AMYH01000422;BC015914;BC109032;BC129950;BC129951;BF115137;CH471059;NM_004672 AAD05304;AAH15914;AAI09033;AAI29951;AAI29952;BAD12485;BAD92042;EAX07758;JE0363;NP_004663;O95382 Hs.194694 1685722 RH94083 ASK2;MAPKKK6;MEKK6;MGC125653;MGC20114 OTTHUMP00000005063;OTTHUMP00000005064;OTTHUMP00000179079;apoptosis signal regulating kinase 2;apoptosis signal-regulating kinase 2;mitogen-activated protein kinase kinase kinase 6 APPROVED protein-coding ENSG00000142733 6858 05126 604468 REVIEWED 1312092 MAP3K3 mitogen-activated protein kinase kinase kinase 3 This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 17 17 q23.3 59053533 59127402 + 61699801 61773670 + 1580863;2293891;2293875;2293879;2298532;6480464;6484113;6907045;7240533 17481747;17306896;9305638;16376520;20626350 12065326;9006902;14743216;12761501;15001576;19265138;18391951;18308725;17985933;16737960;16407301;16381901;16260783;16039990;15572679;15489336;15047705;14702039;14662759;14661019;12912994;12477932;12392720;12391307;11429546;11256614;11230166;11076863;11073940;10700190;10593883;9452471;8889548;8125298;16169070;15205325;20495538;20936779;10085062;12813044;14681216;1474216;16126726;19560753;19903815;20068038;20448038;19913121;20628086;20615764;19953087;21900206;21998595;22021425;22105580;19318350;19843958;9162092 4215 J3KRN4;J3KTC4;J3QRB6;J3QS19;J3QS54;Q99759 ABBA01035326;ABBA01035327;AC046185;AF172823;AK022333;AK225784;AK308152;AK315305;AL834303;AMYH01008548;AX775739;AX775741;BC008336;BC010464;BC018021;BC090859;BC093672;BC093674;BC143224;BC143235;BM479726;BM728104;BM800091;BQ643432;BU633068;CH471109;CQ760470;DQ454151;NM_002401;NM_203351;U78876 AAB41729;AAH08336;AAH90859;AAH93672;AAH93674;AAQ13617;ABE11554;BAG37709;CAD38973;CAE11569;CAE11570;CAF32906;CAL37711;EAW94297;EAW94298;EAW94299;NP_002392;NP_976226;Q99759 Hs.29282 1647003;1706748;1770483;1851745;2158337;2191439;5015619;5015961;5022200;5022450;5024761;5037552 D10S275;D11S3114;D15S1477;D17S1562;D8S2279;L18426;MARC_21879-21880:1041541704:1;RH18305;RH36905;SHGC-80835;WI-11047;WI-17510 MAPKKK3;MEKK3 MAP/ERK kinase kinase 3;MAPK/ERK kinase kinase 3;MEK kinase 3;MEKK 3;mitogen-activated protein kinase kinase kinase 3 APPROVED protein-coding ENSG00000198909 6855 03965 602539 REVIEWED 1315043 MAP3K5 mitogen-activated protein kinase kinase kinase 5 Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008] 6 6 q22.33 136919880 137155349 - 136878187 137113656 - 1580863;2293891;2296020;2298708;2293875;6480464;6484113;6907045;7240533 17481747;12215209;12524169;17306896;20626350 17210579;14761963;11920685;8974401;19306926;19293155;19287004;19004820;19001375;18841476;18822283;18759454;18501712;18380010;18327563;18292600;18219322;18211888;18178252;18054391;18028450;17937911;17883330;17827388;17652454;17595347;17543279;17541429;17456047;17389591;17331470;17325029;17244475;17220297;16648474;16644673;16636664;16532036;16515547;16512785;16476732;15925322;15866172;15864780;15843568;15782121;15755722;15701637;15670787;15489334;15328343;15310755;15246877;15218033;15210709;15094778;15023544;14688258;14668338;14574404;12968034;12912994;12819028;12813029;12697749;12566458;12556535;12543931;12482984;12477932;12473108;12391142;12372597;12244106;12189133;12089063;12077134;12050113;11959862;11689443;11493600;11427728;11416155;11356842;11336675;11298454;11278289;11154276;11096076;11090355;11003656;10921914;10734135;10523862;10411906;9875215;9774977;9743501;9651337;9564042;9465908;8940179;11323689;12820963;17015619;14607843;14743220;22609355;20512919;20661259;11495919;14968112;16316999;17292829;19351724;19570911;19590015;19748889;19880523;19903888;19920149;19935702;19940360;19961619;20035634;20048146;20130137;20185809;20364819;20379614;20674765;20213747;16038411;16407264;20430109;20562859;20936779;20800594;20601186;19913121;20628086;20609399;21187402;23569274;20385180;22110360;21378396;21496457;21738216;23031789;23416061;23102700;16709866;23087182;23747528;21383696;21510938;19789334;21725208;20005844;21771788;22095282;19953087;20349136;20448643;20843792;22197930;23319048;22399290;22167179;18776134;21764682;22939624;15299005;17724081;22723553;15258908;15983381;19782076;23015639;23219526;17331951;19149577;19449444;20068037;22844345;10843682;22925655 4217 A6NIA0;Q99683 AB209093;ABBA01025825;ABBA01025826;AK293953;AK294507;AK310942;AL024508;AL121933;AMYH01016697;AMYH01016698;BC054503;BC088829;CH471051;D84476;NG_011965;NM_005923;U67156 AAC50894;AAH54503;AAH88829;BAA12684;BAD92330;BAG57328;BAG57723;EAW47942;NP_005914;Q99683 Hs.186486 1647478;1693586;1696524;1696548;1697724;1698376;1699290;1753761;1796288;2116150;2134035;2159273;2190781;5125470 D6S1974;D6S2004;FCA844;MAP3K5_913;RH102384;RH102729;RH103229;RH46739;SHGC-100583;SHGC-58491;SHGC-78146;SHGC-83246;STS-N39603;WI-13489 ASK1;MAPKKK5;MEKK5 ASK-1;MAP/ERK kinase kinase 5;MAPK/ERK kinase kinase 5;MEK kinase 5;MEKK 5;OTTHUMP00000017275;apoptosis signal regulating kinase 1;apoptosis signal-regulating kinase 1;mitogen-activated protein kinase kinase kinase 5 APPROVED protein-coding ENSG00000197442 6857 03904 602448 REVIEWED 1313504 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 19 19 q13.1-q13.4 43770121 43800483 - 39078281 39108643 - 1580863;6480464;6907045 8824585;11053428;9788432;17474147;19141650;17895239;17712048;17353368;17192257;17024227;16449643;16341093;15743830;15364934;15302935;14563325;12522005;11514608;11487585;11432831;11313918;11279207;11278340;10602493;10567356;10233887;10224067;9891069;9346925;21145461;15100220;19706536;22974441;21988832;22939624;23460610;22105350;16196087;21915030;22541691;22421156;12496419;22801218;19915061;20697350 11184 B4E087;K7EJS6;K7EKT6;K7ER95;K7ERT2;Q92918 ABBA01040689;ABBA01040690;AC005933;AC008649;AK303267;AMYH01009783;AMYH01009784;AW137524;BX345201;CH471126;NM_001042600;NM_007181;U66464 AAB97983;AAI48360;AAI52995;BAG64349;EAW56799;EAW56800;EAW56801;EAW56802;NP_001036065;NP_009112;Q92918 Hs.95424 1741701;2172994 GDB:182154;RH71249 HPK1 MAPK/ERK kinase kinase kinase 1;MEK kinase kinase 1;MEKKK 1;hematopoietic progenitor kinase 1;mitogen-activated protein kinase kinase kinase kinase 1 protein-coding ENSG00000104814 6863 03583 601983 VALIDATED 1347445 MAP3K7CL MAP3K7 C-terminal like 21 21 21 q22.3 15636331 15731645 + 29374744 29470075 + 30452873 30548204 + 6480464 16189514;16780588;16381901;15489336;15489334;15168726;14759258;14702039;12477932;11707072;11230166;11076863;10830953;21988832;23259602 56911 B4DFW0;C9J990;C9JLK6;P57077 ABBA01057251;ABBA01057252;ABBA01057253;ABBA01057254;ABBA01057255;ABBA01057256;ABBA01057257;AF124730;AF129075;AF269161;AF269162;AF269163;AF269164;AK056341;AK122780;AK294287;AK309998;AL163249;AL713701;AMYH01012188;AY033900;AY171599;BC008567;CH471079;EF219157;EF219158;EF219159;EF219160;FB659856;NM_020152 AAF81751;AAF81752;AAF81753;AAF81754;AAH08567;AAK68718;AAO16519;ABN09903;ABN09904;ABN09905;ABN09906;BAG51683;BAG57571;CAB90434;CAD28500;CAL38552;CAL38649;CAS01782;EAX09918;EAX09919;EAX09920;EAX09921;EAX09922;EAX09923;NP_064537;P57077 Hs.222802 1767908;2177023 SHGC-87526;STS-H89679 C21orf7;HC21ORF7;TAK1L;TAKL;TAKL-1;TAKL-2;TAKL-4 MAP3K7 C-terminal-like protein;MAP3K7 c-terminal like;OTTHUMP00000096476;OTTHUMP00000096477;TAK1-like protein;TAK1-like protein 1;TAK1-like protein 2;TAK1-like protein 4;TGF-beta activated kinase APPROVED protein-coding ENSG00000156265 16457 10764 611110 PROVISIONAL 731488 MAP3K8 mitogen-activated protein kinase kinase kinase 8 This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] 10 10 p11.23 30762872 30790767 + 30722950 30750762 + 1580863;6480464;6907045;7240710;7240533 20626350 15169888;8226782;2072910;19054068;19001140;18984674;18795070;18572386;18518937;18439422;18319612;18187448;17848581;17724252;17398070;17324460;17290588;16806191;16565081;16371247;16087150;15670770;15575964;15489334;15466476;15287022;15188402;15164054;14743216;14517305;12975377;12667451;12477932;12138205;11932422;11278268;10896655;10669751;10072079;9950430;9742107;9603908;9257820;8631303;8479752;1833717;16291755;16385451;18029348;19272346;19754427;19804365;19939924;20379614;20487506;20227498;20603871;21267413;21107320;20945381;16344560;21539449;8889549;21741362;23322277;19953087;21868363;22197930;21988832;22939624;23125217;23252623;23128233;23533274 1326 H0Y7B7;P41279;Q5T853;Q5T854;Q5T857 AA156603;AB209539;ABBA01034343;ABBA01034344;AK290320;AK313295;AL161651;AL547407;AMYH01002217;AY309013;BC104833;BC113566;CH471072;CR542284;D14497;DA308072;DB271664;NG_029984;NM_001244134;NM_005204;Z14138 AAI04834;AAI13567;AAP45053;ADR83009;BAA03387;BAD92776;BAF83009;BAG36102;CAA78512;CAG47079;EAW86004;EAW86005;EAW86006;EAW86007;NP_001231063;NP_005195;P41279 Hs.432453;Hs.731448 1695666;2109493;2168862;2187125 MAP3K8_915;SHGC-35244;SHGC-78707;WI-14992 COT;EST;ESTF;FLJ10486;MEKK8;TPL2;Tpl-2;c-COT Cancer Osaka thyroid oncogene;Ewing sarcoma transformant;OTTHUMP00000019392;OTTHUMP00000019393;cot (cancer Osaka thyroid) oncogene;mitogen-activated protein kinase kinase kinase 8;proto-oncogene c-Cot;proto-oncogene serine/threoine protein kinase;serine/threonine-protein kinase cot;tumor progression locus 2;tumor progression locus-2 APPROVED protein-coding ENSG00000107968 6860 01863 191195;211980 REVIEWED 1352186 MAP3K9 mitogen-activated protein kinase kinase kinase 9 14 14 14 q24.2 51258808 51339845 - 70264605 70345641 - 71194852 71275888 - 2293875;6480464 17306896 8477742;8195146;15610029;15489334;14702039;14504284;12477932;11416147;8536694;19826002;20379614;21107309;22197930 4293 G3V347;G3V4P9;J3KPI6;P80192;Q8NEB1 ABBA01030809;ABBA01030810;ABBA01030811;AC004816;AF251442;AK091645;AK123430;AK294571;AK299727;AK302849;AMYH01005833;AMYH01005834;AY327900;BC033197;BC040716;BC043010;BC111407;BC133706;BX648924;CH471061;NM_033141 AAG44591;AAH33197;AAI11408;AAI33707;AAQ23054;BAG52397;BAG57765;BAG61625;BAG64036;EAW81045;EAW81046;NP_149132;P80192 Hs.445496;Hs.593542 1662389;1667452;1690822;1704438;1705910;1717221;1847420;2110511;2110877;2121287;2127192;2135155;2144900;5015961;5037552;5108028;7183844 D14S102E;D14S1292;D15S1477;D8S2279;G36245;G36246;G38082;G38287;G38295;G38333;L17738;MAP3K9_3244.2;RH11238;RH122025;SHGC-78084;SHGC-82925 MEKK9;MLK1;PRKE1 OTTHUMP00000245576;OTTHUMP00000245577;OTTHUMP00000245578;OTTHUMP00000245579;OTTHUMP00000245580;mitogen-activated protein kinase kinase kinase 9;mixed lineage kinase 1 (tyr and ser/thr specificity) protein-coding 6861 15965 600136 VALIDATED 1319782 MAP3K7 mitogen-activated protein kinase kinase kinase 7 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 6 6 q15 91282074 91353628 - 91223292 91297020 - 2293891;2298803;2298758;2293875;2298805;5490218;5490215;5685014;6480464;6484113;6907045;7240533 17481747;17785553;16183734;17306896;12967473;18535784;20086235;21235323;20626350 17114179;10224067;9466656;15075345;18591963;15125833;9162092;9744859;10066798;12609980;19410630;19284290;19232515;19197243;19074436;19047046;19026643;18950863;18758450;18617512;18456659;18326498;18316610;18299321;18206350;17982039;17947700;17828308;17626013;17608743;17559674;17379600;17363973;17325661;17276978;17202147;17173073;17158449;17081983;16893890;16835226;16527194;16498455;16446357;16301747;16293250;16289117;16280329;16260783;16251197;16186825;16153868;16000313;15917296;15764709;15670770;15590691;15489334;15277532;15082531;14960582;14743216;14702039;14592977;14574404;12874243;12859960;12842894;12804775;12589052;12556533;12547194;12477932;12372426;12296995;12242293;12089335;12048196;11865055;11809792;11585904;11460167;11397816;11259596;11118615;11104763;10921914;10882101;10838074;10807933;10779355;10748100;10195894;10187861;10094049;10022904;9689078;9556573;9480845;9380693;9278437;8638164;8533096;7708055;3031469;18332137;18570872;19112497;14633987;11544529;14670075;12975377;11737269;15782160;9878061;22341466;16115877;19843958;22084099;17620599;22467172;21098640;20677014;14982987;17047224;17449468;17709393;18286207;19419968;19578758;19675569;19687304;19820695;20038579;20061393;20190752;20306291;20379614;20448286;20585109;20682854;20538596;16543241;16543409;20932476;20936779;15276183;19760754;21048031;18838386;20837137;17277779;17965022;22939629;21220427;22941947;12429732;17079228;17948050;20462248;22643835;23221546;23244239;23264041;23272845;23322406;19531477;21498517;9742107;17189706;17947236;19521662;21743023;21233843;16603398;21606198;20164171;21159881;21900206;21903422;22256769;18079694;19955178;21700681;21873447;21896478;22057290;8663074;9079627;22069318;22341439;21139048;21890473;21906983;22590573;22649101;22972987;21841780;22167179;18021073;18037881;18345001;19584092;20200282;21331078;22081109;22384029;22490020;22802624;12496252;15917247;17384642;22851693;23229544;10702308;17348859;17363905;22843747;23000965;18625728;18762249;19556242;20194509;21512569;21512573;21572451;21575904;21866272;22797925;22835455 6885 Q9NTR3;Q9UG54 AB009356;AB009357;AB009358;ABBA01040553;ABBA01040554;AF218074;AI147171;AK055901;AK299268;AK315774;AL050393;AL121837;AL121964;AL520975;AMYH01016508;BC017715;BM172351;BT019654;BT019655;CH471051;DQ314875;NG_011966;NM_003188;NM_145331;NM_145332;NM_145333 AAF27652;AAH17715;AAV38460;AAV38461;ABC40734;BAA25025;BAA25026;BAA25027;BAG38124;BAG61290;CAB43687;EAW48525;EAW48526;EAW48527;EAW48528;EAW48529;NP_003179;NP_663304;NP_663305;NP_663306;O43318 Hs.594838 1663075;1668162;1669804;1785882;2137443;2147597;2156533;2171956;2179285;5093986 A010A09;D6S1420;G33039;RH16422;RH36246;SHGC-132368;SHGC-24062;SHGC-34216;STS-N93759;WI-19992 MEKK7;TAK1;TGF1a OTTHUMP00000016870;OTTHUMP00000016871;OTTHUMP00000016872;OTTHUMP00000016873;TGF-beta activated kinase 1;TGF-beta-activated kinase 1;mitogen-activated protein kinase kinase kinase 7;transforming growth factor-beta-activated kinase 1 APPROVED protein-coding ENSG00000135341 6859 04011 602614 REVIEWED 1317839 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. [provided by RefSeq, Jul 2008] 11 11 11 q13 61882785 61896890 - 64313185 64327289 - 64556609 64570713 - 1580863;6480464;6484113;6907045 11784851;7477268;7515885;8643544;18029348;17192257;12477932;9712898;9253601;1740341;1570017;19913121;20628086;20332113;17584736;22433857;21044950;21900206;21906983;21768215;22505724 5871 C9JCU6;F2Z2B3;F8WCP4;H7C208;Q12851;Q86VU3 ABBA01024145;AK298383;AK304495;AMYH01003713;AP001462;AW574847;BC039839;BC047865;BM458161;CH471076;NG_033040;NM_004579;U07349 AAA20968;AAH47865;BAG60619;BAG65303;EAW74299;EAW74300;EAW74301;EAW74302;NP_004570;Q12851 Hs.534341 1651599;1799180;1801804;1805088;1805918;1806048;1806498;1806854;1806922;1807334;1807410;1807482;1807526;1808486;1809372;1809750;1810308;1810742;1812706;1814532;1814748;1815850;1816606;1819694;1819768;1820456;1822212;1823488;1831144;1832506;1833726;1839194;1839572;1840134;1842956;1843010;1846072;1849430;1851193;1971152;1971154;1971156;1971158;1971160;1971162;1971164;1971166;1971168;1971170;1971172;1971174;1971176;1971178;1971180;1971182;1971184;1971186;1971188;1971190;1971192;1971194;1971196;1971198;1971200;1971202;1971204;1971206;1971208;1971210;1971212;1971214;1971216;1971218;1971220;1971222;1971224;1971226;1971228;1971230;1971232;1971234;1971236;1971238;1971240;1971242;1971244;1971246;1971248;1971250;1971252;1971254;1971256;1971258;1971260;1971262;1971264;1971266;1971268;1971270;1971272;1971274;1971276;1971278;1971280;1971282;1971284;1971286;1971290;1971292;1971294;1971300;1971302;1971306;1971308;1971310;1971312;1971314;1971316;1971318;1971322;1971324;1971326;1971328;1971330;1971332;1971334;1971344;1971346;1971348;1971350;1971352;1971356;1971358;1971360;1971362;1971364;1971366;1971368;1971370;1971372;1971374;1971376;1971378;1971380;1971382;1971384;1971386;1971388;1971390;1971392;1971394;1971396;1971400;1971402;1971404;1971406;1971408;1971410;1971412;1971414;1971416;1971418;1971420;1971422;1971424;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971474;1971476;1971478;1971480;1971482;1971484;1971488;1971490;1971492;1971494;1971496;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;2110513;2115997;2133818;2153390;2214914;2214916;2214918;2214920;2214922;2214924;2214926;2214928;2214930;2214932;2214934;2214936;2214938;2214940;2214942;2214944;2214946;2214948;2214950;2214952;2214954;2214956;2214958;2214960;2214962;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984;5119454 A007D15;D11S1080;D11S4946;D20S991;ECD00438;ECD01783;ECD03486;ECD03912;ECD03977;ECD04206;ECD04392;ECD04426;ECD04638;ECD04676;ECD04713;ECD04735;ECD05225;ECD05678;ECD05867;ECD06146;ECD06366;ECD07364;ECD08296;ECD08405;ECD08965;ECD09345;ECD10914;ECD10954;ECD11303;ECD12192;ECD12835;ECD16708;ECD17392;ECD18008;ECD20777;ECD20969;ECD21251;ECD22686;ECD22713;ECD24256;MAP4K2_2786;REN56459;REN56460;REN56461;REN56462;REN56463;REN56464;REN56465;REN56466;REN56467;REN56468;REN56469;REN56470;REN56471;REN56472;REN56473;REN56474;REN56475;REN56476;REN56477;REN56478;REN56479;REN56480;REN56481;REN56482;REN56483;REN56484;REN56485;REN56486;REN56487;REN56488;REN56489;REN56490;REN56491;REN56492;REN56493;REN56494;REN56495;REN56496;REN56497;REN56498;REN56499;REN56500;REN56501;REN56502;REN56503;REN56504;REN56505;REN56506;REN56507;REN56508;REN56509;REN56510;REN56511;REN56512;REN56513;REN56514;REN56515;REN56516;REN56517;REN56518;REN56519;REN56520;REN56521;REN56522;REN56523;REN56524;REN56525;REN56526;REN56528;REN56529;REN56530;REN56533;REN56534;REN56536;REN56537;REN56538;REN56539;REN56540;REN56541;REN56542;REN56544;REN56545;REN56546;REN56547;REN56548;REN56549;REN56550;REN56555;REN56556;REN56557;REN56558;REN56559;REN56561;REN56562;REN56563;REN56564;REN56565;REN56566;REN56567;REN56568;REN56569;REN56570;REN56571;REN56572;REN56573;REN56574;REN56575;REN56576;REN56577;REN56578;REN56579;REN56580;REN56581;REN56583;REN56584;REN56585;REN56586;REN56587;REN56588;REN56590;REN56591;REN56592;REN56593;REN56594;REN56595;REN56596;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56628;REN56629;REN56630;REN56631;REN56632;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;RH68087;STS-U07349;WI-18813;stSG635687;stSG635688;stSG635689;stSG635690;stSG635691;stSG635692;stSG635693;stSG635694;stSG635695;stSG635696;stSG635697;stSG635698;stSG635700;stSG635701;stSG635702;stSG635703;stSG635704;stSG635705;stSG635708;stSG635709;stSG635710;stSG635711;stSG635713;stSG635714;stSG635715;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728 BL44;GCK;RAB8IP B lymphocyte serine/threonine protein kinase;GC kinase;MAPK/ERK kinase kinase kinase 2;MEK kinase kinase 2;MEKKK 2;OTTHUMP00000042793;OTTHUMP00000069727;Rab8 interacting protein;b lymphocyte serine/threonine-protein kinase;germinal center kinase;germinal centre kinase (GC kinase);mitogen-activated protein kinase kinase kinase kinase 2;rab8-interacting protein APPROVED protein-coding ENSG00000168067 6864 04408 603166 REVIEWED 732595 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 2 2 2 p22.1 39317367 39505201 - 39329926 39517723 - 39476407 39664453 - 1580863;6480464;6484113;6907045 16344560;19806019;9275185;17474147;19587239;14702039;12477932;12127567;11384986;9847074;20936779;19913121;20628086;20200978;20227368;20379614;21983831;22867055 8491 A8K602;B3KMM5;B4DSS3;F5H5A3;F8WAZ1;F8WBC3;H7C1A4;Q8IVH8 ABBA01075030;ABBA01075031;ABBA01075032;AC007684;AC079615;AF445413;AK021553;AK291467;AK299889;AK314487;AK316144;AMYH01010272;AMYH01010273;BC060880;BC071579;CH471053;DA409370;NG_028007;NM_001270425;NM_003618 AAF19240;AAH71579;AAN75849;AAN75850;AAY14734;ACE87796;ACT64392;BAF84156;BAG51037;BAG61735;BAH14515;EAX00346;EAX00347;NP_001257354;NP_003609;Q8IVH8 Hs.655750 1647005;1671334;1673626;1727797;1778408;1796290;2115991 1386;D2S1852;G09793;G63164;MAP4K3_361;SHGC-54631;SHGC-64118 GLK;MAPKKKK3;MEKKK 3;MEKKK3;RAB8IPL1 MAPK/ERK kinase kinase kinase 3;MEK kinase kinase 3;OTTHUMP00000128322;OTTHUMP00000204178;OTTHUMP00000204180;germinal center kinase-like kinase;germinal center kinase-related protein kinase;mitogen-activated protein kinase kinase kinase kinase 3 APPROVED protein-coding ENSG00000011566 6865 05373 604921 REVIEWED 1606581 MAP6 microtubule-associated protein 6 This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 q13.5 74975611 75057127 - 75297963 75379479 - 6480464 19165527;16624526;14702039;14692697;14567673;12477932;12231625;11347906;11279055;10516426;9501006;8700896;15604093;20379614;17210638;22904321 4135 Q6ZWB8;Q96JE9 AB058781;ABBA01017462;ABBA01017463;AK054873;AK096511;AK123340;AMYH01003817;AMYH01003818;AP001922;BC041411;BC063860;BC139780;BC150254;NM_033063;NM_207577 AAH63860;AAI39781;AAI50255;BAB47507;BAC85586;NP_149052;NP_997460;Q96JE9 Hs.585540 1656109;1664152;1693684;1697760;1732295;1737181;1737659;2114881;5096542 D11S1839;D11S3043;D11S3266;RH102403;RH12090;RH44209;SHGC-58607;STS-H10425;WI-21082 FLJ41346;KIAA1878;MTAP6;N-STOP;STOP MAP-6;OTTHUMP00000229411;OTTHUMP00000229417;OTTHUMP00000229418;microtubule-associated protein 6;stable tubule-only polypeptide APPROVED protein-coding ENSG00000171533 6868 15989 601783 REVIEWED 1343248 MAP4 microtubule-associated protein 4 The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 3 3 p21 47867189 48105715 - 47892180 48130769 - 1580863;6480464 10542369;17474147;1905296;19367581;18613117;17081983;16964243;16804917;16565220;16344560;16093351;15840946;15528234;15489334;15302935;15144186;14759258;14702039;14594945;14527689;12890753;12855424;12773533;12477932;12123579;12079337;11683421;10791892;21145461;22298430;10341201;9398320;9365275;9110174;8631898;8619474;7909279;7876309;7857940;1718985;1477887;16169070;15604093;19834535;20562859;22164227;22863883;20391533;23314748;22939629;19596686;21900206;22018492;18029348;21822276;19531213;22586326;21907836;18781797;20972266;21139048;21890473;21906983;21909110;16009940;21044950;21628590;19380743;22952844 4134 B4DSQ1;B5MEG9;B9ZVR1;E7EVA0;E9PGM5;F8W9U4;H0Y2V1;H7C456;H7C4C5;P27816 AA206810;AA447222;AA904866;AB209377;ABBA01024659;ABBA01024660;ABBA01024661;ABBA01024662;ABBA01024663;ABBA01024664;ABBA01024665;ABBA01024666;ABBA01024667;ABBA01024668;ABBA01024669;AC124916;AC139667;AF052156;AF454938;AI078534;AK054577;AK054696;AK091042;AK125245;AK297242;AK299854;AK307606;AL831878;AMYH01013146;AMYH01013147;AMYH01013148;BC008715;BC012794;BC015149;BC019229;BC048200;BC051843;BC067228;BG760540;BI549723;CH471055;CR749544;DA114613;DA150735;DC343259;M64571;NM_001134364;NM_002375;NM_030885;U19727 AAA59553;AAA67361;AAH08715;AAH12794;AAH15149;AAH19229;AAH48200;AAH51843;AAH67228;AAP97697;ACE86527;ACE87206;BAB70795;BAC86099;BAD92614;BAG59722;BAG61713;CAD38562;CAH18346;EAW64837;EAW64838;EAW64839;EAW64840;EAW64841;EAW64842;EAW64843;EAW64844;EAW64845;EAW64846;EAW64847;EAW64848;NP_001127836;NP_002366;NP_112147;P27816 Hs.517949 1335084;1338779;1342285;1680835;1682700;1698532;1705686;1730383;1732061;1735108;1735134;1735178;1750763;1759357;1759665;1767967;1767982;1774180;1778248;1797140;2128119;2145446;2152186;2159380;2167904;2168065;5015619;5037554;7184699 D11S3114;D3F293S1;D3S1322E;D3S2420;D3S2785E;D3S2798E;D3S2823E;D3S3640;D3S3729;D3S3908;D3S3939;D8S2282;MAP4;RH102817;RH11703;RH28396;RH46453;RH79999;SHGC-102208;SHGC-150988;SHGC-150989;SHGC-63486;SHGC-63487;SHGC-76914;SHGC-76920;SHGC-83423;STS-M64571;STS-T95605 DKFZp779A1753;MGC8617 MAP-4;OTTHUMP00000210722;OTTHUMP00000210723;OTTHUMP00000210725;OTTHUMP00000210726;OTTHUMP00000210727;OTTHUMP00000210730;microtubule-associated protein 4 APPROVED protein-coding ENSG00000047849 6862 01141 157132 REVIEWED 1313282 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 q11.2-q12 101680920 101877584 + 102314165 102511152 + 1580863;6480464;6484113;6907045 10807933;21196414;9890973;18981001;17227768;17192257;16537454;15302935;14966141;14702039;12612079;12477932;12387898;12185077;11967148;11369779;10805734;10669731;9734811;9135144;14578343;16344560;20857524;20936779;19615732;19690174;22990118;23543740;22824148;21382349;21988832;22939624;23000965;23094072;21139048;21890473;21906983;22321011;23453885;15951441;22505724;22952844 9448 B7Z3V5;C9J840;E7EN19;E7ENQ1;E7ESS2;E7ETN6;E7EX83;G3XAA2;G5E948;H7C0P6;H7C360;H7C3Z6;O95819 AB013385;AB014587;ABBA01073902;ABBA01073903;ABBA01073904;ABBA01073905;ABBA01073906;ABBA01073907;AC005035;AC007005;AF096300;AK000380;AK001272;AK025610;AK074592;AK074900;AK130085;AK295610;AK296396;AK307879;AL137755;AMYH01010815;AMYH01010816;AMYH01010817;AMYH01010818;AMYH01010819;AY212247;AY834276;BC010909;BC040077;BC045694;BC051791;BC054038;BC064691;BC065036;BU595561;BU625485;CH471127;DB086475;DR002278;NM_001242559;NM_001242560;NM_004834;NM_145686;NM_145687 AAD16137;AAI56090;AAI56888;AAO32626;AAV97884;AAY14969;AAY14970;AAY24319;BAA31662;BAA33714;BAA91127;BAH12124;BAH12341;CAB70907;EAX01805;EAX01806;EAX01807;EAX01808;EAX01809;EAX01810;NP_001229488;NP_001229489;NP_004825;NP_663719;NP_663720;O95819 Hs.701013 1334924;1646204;1661249;1676934;1683347;1684968;1713547;1769493;1797844;1849262;2111368;2117769;2119734;2152554;2191615;5015861;5114252;5120902;7183867;7185938 A002T17;Cda0gg02;D10S16;D2S1511E;D2S1670E;D2S2264;MAP4K4_2040;MARC_27547-27548:1035300711:1;NIB1426;RH120260;RH47983;RH68076;RH68579;RH69786;RH91166;SHGC-34865;STS-F04654;WI-18219 FLH21957;FLJ10410;FLJ20373;FLJ90111;HGK;KIAA0687;MEKKK4;NIK HPK/GCK-like kinase HGK;MAPK/ERK kinase kinase kinase 4;MEK kinase kinase 4;MEKKK 4;OTTHUMP00000207902;OTTHUMP00000207903;OTTHUMP00000207971;OTTHUMP00000207972;OTTHUMP00000207973;OTTHUMP00000207974;Ste20 group protein kinase HGK;hepatocyte progenitor kinase-like/germinal center kinase-like kinase;mitogen-activated protein kinase kinase kinase kinase 4;nck-interacting kinase APPROVED protein-coding ENSG00000071054 6866 05235 604666 REVIEWED 1602463 MAP6D1 MAP6 domain containing 1 This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008] 3 3 3 q27.1 181977044 181986772 - 185016364 185026059 - 183533664 183543393 - 6480464 16837464;15489334;14702039;12477932 79929 C9JPF8;H7BZQ6;Q9H9H5 AA890498;ABBA01058471;AC131160;AK022810;AMYH01013709;BC006434;BI669125;CH471052;NM_024871 AAH06434;BAB14254;EAW78313;EAW78314;NP_079147;Q9H9H5 Hs.478465 1338876;1784838;1784840;2122832;2136180;5114206 D3S1571;RH78134;SHGC-155660;SHGC-155661;SHGC-77592;STS-AA022862 FLJ12748;MAPO6D1;SL21 21 kDa STOP-like protein;MAP6 domain-containing protein 1;OTTHUMP00000210966;OTTHUMP00000210967;STOP-like protein 21 APPROVED protein-coding ENSG00000180834 25753 07793 610593 REVIEWED 1346481 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2-q21 30752350 30866424 - 49954993 50069126 - 50885211 50999376 - 1580863;6480464;6484113 9038372;9788432;17474147;17192257;16699725;15489334;14702039;12591926;12477932;10648385;10490605;10477597;9949177;8274451;15146197;20936779;18029348;19322201;21900206;19953087;21139048;21906983;19380743;20125193 11183 B3KWC4;G3V3V7;G3V4Q4;G3V4T8;G3V5C6;Q9Y4K4 ABBA01018136;ABBA01018137;ABBA01018138;AK124738;AK313612;AL118556;AMYH01005723;BC013159;BC036013;CB959746;CB990293;CH471078;CN343360;FB775504;FB775506;NM_006575;NM_198794;U77129;Z25426 AAB48435;AAH36013;ABM85112;BAG36375;BAG54086;CAA80913;CAV30709;CAV30710;EAW65710;EAW65711;EAW65712;EAW65713;NP_006566;NP_942089;Q9Y4K4 Hs.130491 1797846;2116337;2116485;2123273;2141419;2145158;2149547;5022651;5108741 D11S2921;D14S158;D14S955;G35390;G35831;MAP4K5_2192;RH66715;SHGC-64061;WI-18091 GCKR;KHS;KHS1;MAPKKKK5 MAPK/ERK kinase kinase kinase 5;MEK kinase kinase 5;MEKKK 5;OTTHUMP00000244662;germinal center kinase-related;kinase homologous to SPS1/STE20;mitogen-activated protein kinase kinase kinase kinase 5 APPROVED protein-coding ENSG00000012983 6867 05374 604923 REVIEWED 1603999 MAP7D1 MAP7 domain containing 1 1 1 1 p34.3 34896283 34920916 + 36394390 36419028 + 36621803 36646441 + 6480464 14702039;12477932;10574461;9921901;9110174;8619474;16169070;22261722;16713569;19615732;17370265;20360068;21139048;21890473;22505724 55700 C9JIR3;E9PLH3;H0YF21;Q3KQU3 AB033013;ABBA01023312;AC114484;AF064852;AF218002;AK001212;AK095939;AK096341;AK309966;AL136547;AMYH01000493;AY007099;BC003083;BC015885;BC027334;BC057293;BC067256;BC082266;BC106053;BC111428;BC128042;CH471059;CR457254;NM_018067 AAG17244;AAH27334;AAH67256;AAI06054;AAI28043;BAA86501;BAA91557;BAC04654;BAG53265;CAB66482;CAG33535;EAX07381;EAX07382;EAX07383;EAX07384;NP_060537;Q3KQU3 Hs.356096 1668284;1673387;2184002;2191405;7186807 D11S4371;D11S952E;MARC_21357-21358:1023909441:1;SHGC-31916 FLJ10350;FLJ39022;MGC117315;PARCC1;RPRC1 MAP7 domain-containing protein 1;OTTHUMP00000009182;OTTHUMP00000009183;OTTHUMP00000228575;arginine/proline rich coiled-coil 1;arginine/proline-rich coiled-coil domain-containing protein 1;proline arginine rich coiled coil 1;proline/arginine-rich coiled-coil domain-containing protein 1 protein-coding ENSG00000116871 25514 07666 PROVISIONAL 1318886 MAP7 microtubule-associated protein 7 The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 q23.3 136705565 136913485 - 136663419 136871957 - 1580863;6480464 14574404;8408219;18695889;17081983;16964243;16565220;15489334;15218243;14517216;12845596;12755995;12477932;11719555;9989799;7490279;16712791;19913121;20628086;18029348;16344560;22863883;19531213;21044950 9053 B7Z3E1;B7Z3Y3;B7ZB64;Q7Z6S0 AB073649;ABBA01025826;ABBA01025827;ABBA01025828;AI344295;AJ242501;AJ242502;AJ420541;AK294461;AK295749;AK296483;AK296556;AK299355;AK307873;AK311114;AK311227;AK311234;AK311236;AK311270;AK312789;AK316062;AK316529;AL023284;AL024508;AL042021;AL133511;AMYH01016696;AMYH01016697;BC025777;BF792432;CB162980;CD557798;CH471051;DA329576;DA341792;DC325462;DC332469;NM_001198608;NM_001198609;NM_001198611;NM_001198614;NM_001198615;NM_001198616;NM_001198617;NM_001198618;NM_001198619;NM_003980;X73882 AAH25777;ABM81872;ABM87811;BAG35651;BAH11776;BAH12177;BAH12369;BAH12386;BAH13013;BAH14433;BAH14900;CAA52086;CAB88030;CAB88031;EAW47944;EAW47945;EAW47946;EAW47947;NP_001185537;NP_001185538;NP_001185540;NP_001185543;NP_001185544;NP_001185545;NP_001185546;NP_001185547;NP_001185548;NP_003971;Q14244 Hs.486548 1650932;1659952;1670453;1673763;1696738;1711066;1719663;1754599;1775638;1796292;2119648;2129622;2135254;2166511;2174507;2174509;2177836;7187607 1736;AL020982;D6S1258;D6S1494;D6S1849;D6S1865;D6S323E;MAP7_917;RH123523;RH46709;RH63710;SHGC-132897;SHGC-77904;SHGC-86169;STS-M61959;STS-X73882;WI-20359 E-MAP-115;EMAP115 MAP-7;OTTHUMP00000017274;dJ325F22.2 (microtubule-associated protein 7 (EMAP115, E-MAP-115));ensconsin;epithelial microtubule-associated protein of 115 kDa APPROVED protein-coding ENSG00000135525 6869 04982 604108 REVIEWED 1605254 MAP7D2 MAP7 domain containing 2 X X X p22.12 24148899 24259048 - 19935150 20044937 - 20024831 20135114 - 6480464 14702039;12477932;15772651;16344560;16959974;19413330;21890473;21906983 256714 F5GYC2;H0YJ61;Q6PIC7 ABBA01071830;ABBA01071831;ABBA01071832;ABBA01071833;ABBA01071834;ABBA01071835;ABBA01071836;ABBA01071837;ABBA01071838;ABBA01071839;ABBA01071840;ABBA01071841;ABBA01071842;ABBA01071843;ABBA01071844;ABBA01071845;AK027409;AK098768;AK127056;AK294788;AK296319;AK303019;AK316117;AL732366;AMYH01022133;AMYH01022134;AW138738;BC037165;BC052256;BC089400;BC136379;CH471074;DA409284;DC342615;JQ319659;JQ319660;NG_016371;NM_001168465;NM_001168466;NM_001168467;NM_152780;R45976 AAH37165;AAH89400;AAI36380;AFG73613;AFG73614;BAB55093;BAC05407;BAG54432;BAH11884;BAH12313;BAH13881;BAH14488;EAW98971;NP_001161937;NP_001161938;NP_001161939;NP_689993;Q96T17 Hs.127951 1673213;1691006;1702006;1702086;1732685;1791191;1791211;2139757;2164100 188G3_T7;382L18_T7;A004N33;D17S1162;DXS1525;DXS6730;RH11293;RH44291;sWXD1124 FLJ14503;MGC104944;RP11-393H10.2 MAP7 domain containing 2 protein varaint 1;MAP7 domain containing 2 protein varaint 2;MAP7 domain-containing protein 2;OTTHUMP00000023029;OTTHUMP00000023030;OTTHUMP00000245297;OTTHUMP00000245298 protein-coding ENSG00000184368 25899 06525 VALIDATED 1606231 MAP7D3 MAP7 domain containing 3 The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Mar 2010] X X X q26.3 135658025 135701290 - 135128046 135161274 - 135295379 135338641 - 6480464 22142902;14702039;12477932;20562864;18029348;21139048;21890473;21906983;19531213 79649 Q6P2S1 ABBA01055873;ABBA01055874;ABBA01055875;ABBA01055876;ABBA01055877;ABBA01055878;AK022711;AK301478;AL078638;AL832120;AL832475;AMYH01023049;AW139720;AW206053;BC040518;BC064350;CH471150;DB454674;NG_016801;NM_001173516;NM_001173517;NM_024597 AAH40518;AAH64350;BAB14195;BAG62994;EAW88475;NP_001166987;NP_001166988;NP_078873;Q8IWC1 Hs.446275 1691572;2135698;5015861;5022578;7185938 AL032562;D10S16;D1S1423;STS-W44435 FLJ12401;FLJ12649;RP11-535K18.3 MAP7 domain-containing protein 3;OTTHUMP00000024119;OTTHUMP00000024120;OTTHUMP00000195153 APPROVED protein-coding ENSG00000129680 25742 REVIEWED 1605620 MAP9 microtubule-associated protein 9 ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008] 4 4 4 q32.1 153594215 153629626 - 156483260 156517572 - 156263810 156298122 - 6480464 17925329;16049101;15815621;14702039;12477932;8889548;20615875;20379614;22672907;18029348;15090612 79884 A2VCS9;A8MSM7;C9JXH8;E7ETZ8;H0Y945;Q05CN5;Q49MG5 ABBA01070166;ABBA01070167;AC097467;AK024730;AK024812;AK301075;AMYH01014635;AY690636;BC022852;BC056683;BC128540;BC128541;BC146864;CF144347;CH471056;CR749274;NM_001039580 AAH22852;AAH56683;AAI28541;AAI28542;AAI46865;AAW02921;AAY40981;BAB14978;BAB15017;BAG62681;CAH18129;EAX04898;EAX04899;EAX04900;NP_001034669;Q49MG5 Hs.61271 1662821;1678157;1684800;1687237;1690706;2148969;2167963 D4S1062;G34102;RH45691;RH92472;RH98645;RH98945;RH99321 ASAP;FLJ21159 OTTHUMP00000196619;OTTHUMP00000196622;OTTHUMP00000220311;aster-associated protein;microtubule-associated protein 9 APPROVED protein-coding ENSG00000164114 26118 07957 610070 VALIDATED 1319634 MAPK11 mitogen-activated protein kinase 11 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. This kinase is most closely related to p38 MAP kinase, both of which can be activated by proinflammatory cytokines and environmental stress. This kinase is activated through its phosphorylation by MAP kinase kinases (MKKs), preferably by MKK6. Transcription factor ATF2/CREB2 has been shown to be a substrate of this kinase. [provided by RefSeq, Jul 2008] 22 22 q13.33 49044269 49050906 - 50702142 50708779 - 1580863;2293891;6480464;6484113;6907045 17481747 8663524;17254968;8846784;9687510;11520933;19082897;18950637;16643845;15728454;15708845;15489334;15461802;15356147;15326477;15304344;15304097;15273249;15249224;15048855;14724572;14688370;14680475;14651992;14557269;14522966;12586546;12510156;12477932;12384504;12171600;12060661;11847341;11579095;11495898;11359773;10820433;10591208;9628874;9430721;9235954;9218798;9207191;12239168;19913121;20628086;10878576;17380123;19706373;20056178;20162623;20188673;9297626;15276183;15923648;20053787;20378550;16341674;10952989;21832049;10330143;21900206;22157753;22522454;17906618 5600 B7Z630;F8WDP4;L7RT27;Q15759 ABBA01011381;ABBA01011382;AF001008;AF001174;AF031135;AK291845;AK299745;AK308969;AK309046;AL022328;AMYH01012899;BC027933;BM857051;BX361670;CH471138;CR456514;DQ279722;EU332851;NM_002751;U53442;U92268;XM_003960822;Y14440 AAB05036;AAB66313;AAC12714;AAC51250;AAC51373;AAH27933;ABB72677;ABM82654;ABM85831;ABY87540;BAF84534;BAH13116;CAA74792;CAG30400;CAK54545;CAK54844;EAW73524;EAW73525;EAW73526;NP_002742;Q15759;XP_003960871 Hs.57732 1789350;1789356;2108235 G67869;G67896;MAPK11_7859 P38B;P38BETA2;PRKM11;SAPK2;SAPK2B;p38-2;p38Beta MAP kinase 11;MAP kinase p38 beta;MAPK 11;OTTHUMP00000196653;OTTHUMP00000196655;mitogen-activated protein kinase 11;mitogen-activated protein kinase p38 beta;mitogen-activated protein kinase p38-2;stress-activated protein kinase 2;stress-activated protein kinase 2b;stress-activated protein kinase-2;stress-activated protein kinase-2b APPROVED protein-coding ENSG00000185386 6873 04208 602898 REVIEWED 733441 MAPK10 mitogen-activated protein kinase 10 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This protein is a neuronal-specific form of c-Jun N-terminal kinases (JNKs). Through its phosphorylation and nuclear localization, this kinase plays regulatory roles in the signaling pathways during neuronal apoptosis. Beta-arrestin 2, a receptor-regulated MAP kinase scaffold protein, is found to interact with, and stimulate the phosphorylation of this kinase by MAP kinase kinase 4 (MKK4). Cyclin-dependent kianse 5 can phosphorylate, and inhibit the activity of this kinase, which may be important in preventing neuronal apoptosis. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 4 4 q22.1-q23 87156656 87593307 - 86936276 87374283 - 1580863;1300048;2298567;2298561;2293875;6480464;6484113;6907045;7240710 15680699;10051439;17306896 9045910;16481105;12960231;12857973;12239168;11698270;11468147;12714584;15246824;12775419;12089333;11504923;8654373;7826642;19001375;18408005;17680991;16737965;16611996;16249883;16169070;15693750;15489334;14702039;12818176;12477932;12436199;12189133;12167088;11823425;11718727;11359773;11356842;11322657;11259409;11231586;11185509;11090355;10715136;10629060;10523642;10471813;9847074;9739089;9393873;9349820;8125298;1922387;15603708;15299005;9403476;10756100;16007099;18624398;22047447;10878576;16344560;17670986;19879840;20056178;20936779;15276183;20525557;21166945;16824735;10383391;12963725;19527717;21832049;21041242;19204086;21988832;23142346;23329067;21321401;22001757;22523077;22505724 5602 A8MPV1;A8MWW6;D6R9C1;D6RAJ0;D6RAU3;D6RBH2;D6RC26;D6RCB1;D6RDG1;D6RFX8;D6RFZ7;D6RJF9;H0Y9H3;P53779;Q499Y8 ABBA01063498;ABBA01063499;ABBA01063500;AC096953;AC104059;AC104827;AC108054;AK022161;AK057723;AK091104;AK124791;AK225974;AK294125;AK307129;AMYH01014370;AMYH01014371;BC022492;BC035057;BC051731;BC065516;BI549234;CH471057;CS693282;CS693286;CS693290;DA192997;NG_013325;NM_002753;NM_138980;NM_138981;NM_138982;U07620;U34819;U34820 AAC50101;AAC50604;AAC50605;AAH35057;AAH51731;AAH65516;BAG51956;BAG52284;BAG54096;BAH11677;CAP12256;CAP12257;CAP12259;EAX05962;EAX05963;NP_002744;NP_620446;NP_620447;NP_620448;P53779 Hs.125503 1652280;1660606;1665641;1666409;1696794;1697348;1708710;1720373;1740007;1747893;1775187;1779165;1785806;1796294;2107789;2111372;2129767;2149201;2151787;2156748;2171057;2174193;2185630;5014051;5022200;5037552 AFMa059xc9;D4S1019;D4S1055;D4S1153;D4S2469E;D4S2785;D4S2898;D4S3161;D8S2278;D8S2279;G01820;G10714;G34449;G66840;L18426;MAPK10_182;MARC_31431-31432:1049827311:1;RH102171;RH123938;SHGC-24232;SHGC-50852;SHGC-59777;SHGC-7527;SHGC-79840;SHGC-81500;SHGC4-1855 FLJ12099;FLJ33785;JNK3;JNK3A;MGC50974;PRKM10;SAPK1b;p493F12;p54bSAPK JNK3 alpha protein kinase;MAP kinase 10;MAP kinase p49 3F12;MAPK 10;OTTHUMP00000161179;OTTHUMP00000161180;OTTHUMP00000161181;OTTHUMP00000161182;OTTHUMP00000161183;OTTHUMP00000218566;OTTHUMP00000218717;OTTHUMP00000218718;c-Jun N-terminal kinase 3;mitogen activated protein kinase 10;mitogen-activated protein kinase 10;stress activated protein kinase beta;stress-activated protein kinase 1b;stress-activated protein kinase JNK3 APPROVED protein-coding ENSG00000109339 6872 04207 602897;606369 REVIEWED 731716 MAPK12 mitogen-activated protein kinase 12 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008] 22 22 q13.33 49033458 49042216 - 50691331 50700089 - 1580863;1300048;2293891;6480464;6907045 17481747 10848581;10508788;15158451;8633070;11520933;9297626;18559936;17724032;17088247;17081983;15489334;15461802;15342622;15284239;14702039;14592936;12915405;12536241;12477932;12171600;12167088;11991731;11741894;11062068;11062067;10591208;10567720;10212242;9628874;9199504;9169156;9019171;8920915;12239168;9564043;19913121;20628086;11104762;11181841;12226093;12387894;12761180;1330687;16637659;19251701;20332238;7566346;9353289;9565682;9735171;9771888;9832145;20804750;20605917;15923648;21172807;21532888;22939629;19953087;15850461;21862636;21878638;22399296;21044950;17906618;22730326;22730327;22522454 6300 A8MY48;B5MDL5;P53778 ABBA01011380;ABBA01011381;AK098058;AK123665;AK289770;AK294422;AK307421;AK307724;AK308768;AL022328;AMYH01012898;BC015741;BX640648;CH471138;CR456515;NM_002969;U66243;X79483;XM_003846644;Y10487 AAB40118;AAH15741;ABM83713;ABM87033;BAF82459;BAG53571;BAG53932;BAH11760;CAA55984;CAA71511;CAE45794;CAG30401;CAK54546;CAK54845;EAW73521;EAW73522;NP_002960;P53778;XP_003846692 Hs.432642 1677802;1789342;1789344;1789346;1789348;2108235;5015619;5022200;5037552 D11S3114;D8S2279;G67863;G67870;G67895;G67897;L18426;MAPK11_7859;RH65991 ERK3;ERK6;P38GAMMA;PRKM12;SAPK-3;SAPK3 ERK-6;MAP kinase 12;MAP kinase p38 gamma;MAPK 12;OTTHUMP00000028548;OTTHUMP00000196671;extracellular signal-regulated kinase 6;mitogen-activated protein kinase 12;mitogen-activated protein kinase 3;mitogen-activated protein kinase p38 gamma;stress-activated protein kinase 3 APPROVED protein-coding ENSG00000188130 6874 03868 602399 REVIEWED 737240 MAPK13 mitogen-activated protein kinase 13 This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 p21.31 36206240 36215820 + 36098261 36112301 + 1580863;1300048;2293891;6480464;6907045 17481747 9218798;19135240;12244047;11520933;18559936;18367666;16644870;15489334;15340077;15231748;14574404;12810719;12482858;12477932;12171600;12080077;11500363;10727080;10201954;10066767;9841871;9731215;9628874;9374491;9295308;9207191;8125298;12239168;11378392;19913121;20628086;20805296;20804750;19816939;20056178;20090411;9297626;20478268;21832049;23383273;23187130;19279008;22199349;16751776;21906983;15850461;18624398;16344560;22730327;17906618 5603 O15264;Q5R3E4;Q5R3E6;Q5U4A5 AB209586;AB451221;AB451344;ABBA01038252;AF004709;AF015256;AF092535;AF100546;AK222922;AK308018;AMYH01016271;BC000433;BC001641;BC004428;BC085196;BM921729;BT007221;CH471081;CR536490;CR541687;DB335275;DB473379;DQ588728;DR006449;NM_002754;NR_072996;U93232;Y10488;Z95152 AAB87639;AAC51374;AAC51758;AAD23377;AAF36772;AAH00433;AAH01641;AAH04428;AAH85196;AAP35885;ABM82298;ABM85477;ACE86820;ACE87506;BAD92823;BAD96642;BAG70035;BAG70158;CAA71512;CAG38729;CAG46488;EAX03874;EAX03875;EAX03876;NP_002745;O15264 Hs.178695 1674380;1774699;1788598;1796296 MAPK13_919;MARC2561-2562;RH46763;WI-17354 MAPK 13;MAPK-13;MGC99536;PRKM13;SAPK4;p38delta MAP kinase 13;MAP kinase p38 delta;MAPK 13;OTTHUMP00000016282;OTTHUMP00000016283;mitogen activated protein kinase 13;mitogen-activated protein kinase 13;mitogen-activated protein kinase p38 delta;stress-activated protein kinase 4 APPROVED protein-coding 6875 09113 602899 REVIEWED 1604966 MAPK15 mitogen-activated protein kinase 15 8 8 8 141109455 141115595 + 144870495 144876621 + 144798507 144804633 + 2304230;6480464 12917323 11875070;18029348;19166846;16624805;16484222;16336213;15489334;15342556;12477932;12239168;9880541;20395206;20733054;21190936;22939624;22948227;23326322;23455922;23251661 225689 Q8TD08 ABBA01005242;ABBA01005243;AC105219;AMYH01019112;AY065978;AY994058;BC028034;BP357805;CH471162;NM_139021 AAH28034;AAL40897;AAY44299;ABM82399;ABM85587;EAW82203;EAW82204;EAW82205;NP_620590;Q8TD08 Hs.493169 ERK7;ERK8 ERK-7;ERK-8;MAP kinase 15;MAPK 15;OTTHUMP00000189334;extracellular regulated kinase 8 delta;extracellular signal regulated kinase 8;extracellular signal-regulated kinase 7;extracellular signal-regulated kinase 8;mitogen-activated protein kinase 15 protein-coding ENSG00000181085 24667 16867 VALIDATED 1345876 MAPK6PS1 mitogen-activated protein kinase 6 pseudogene 1 8 8 8 q11.23 50439635 50444884 + 54611373 54616779 + 54448877 54454126 + 12504858 317686 ABBA01041718;AC022034;AMYH01018719;NG_002454 Erk3ps1 pseudo 18980 INFERRED 1342650 MAPK6PS2 mitogen-activated protein kinase 6 pseudogene 2 21 21 21 q21.1 8989753 8993784 - 22729125 22733331 - 23807356 23811387 - 12504858 254664 ABBA01057174;AMYH01012166;AP000953;NG_002448 pseudo 16756 INFERRED 1351416 MAPK6PS3 mitogen-activated protein kinase 6 pseudogene 3 13 13 13 q14.13 23699530 23703691 - 41539746 41544090 - 42641853 42646014 - 12504858 317684 ABBA01021259;AL157932;AMYH01005069;NG_002453;NG_029191 pseudo 18977 INFERRED 1347733 MAPK6PS4 mitogen-activated protein kinase 6 pseudogene 4 8 8 8 q11.1 43867121 43871190 - 48002018 48006274 - 47882951 47887020 - 12504858 286065 ABBA01018441;AC026241;AC103773;AMYH01018700;NG_002451 2217592 MAPK6_180.2 Erk3ps4 pseudo 18456 INFERRED 1348878 MAPK6PS5 mitogen-activated protein kinase 6 pseudogene 5 8 8 8 q23.1 106670052 106672167 + 110551443 110553756 + 110482367 110484483 + 12504858 286156 ABBA01037712;AC021001;AMYH01018958;NG_002452 1694630 G43355 pseudo 18979 INFERRED 732502 MAPK1 mitogen-activated protein kinase 1 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.21 20443946 20551970 - 22113946 22221970 - 1582284;1580863;1582283;1582282;1582281;1357969;1302576;1626216;2314939;6480464;6484113;6907045;7244171;7243971;7243957;7244173;7244159;7243969;7243972 15583728;15607907;15653762;15669185;12835716;14502223;17310240;15928662;23698112;15213271;19923143;22392145;22950999;22045654;20203158 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5594 A8CZ64;P28482;Q1HBJ4;Q499G7 ABBA01055067;ABBA01055068;ABBA01055069;ABBA01055070;ABBA01055071;AI004470;AK055080;AK057143;AK090869;AK295188;AK307615;AMYH01012638;AMYH01012639;AP000553;AP000554;AP000555;BC017832;BC099905;CH471095;DQ399292;DQ508104;EF565108;EU332852;HC462822;NG_023054;NM_002745;NM_138957;Z11694;Z11695 AAH17832;AAH99905;ABD60303;ABF47102;ABW03774;ABY87541;ACE86441;ACE87116;BAG58192;CAA77752;CAA77753;CBK51146;EAW59479;EAW59480;EAW59481;EAW59482;NP_002736;NP_620407;P28482 Hs.431850 1672214;1735064;1735070;1784550;1796300;2130847;2167908 D22S1011E;D22S1022E;G30303;MAPK1_921;RH47000;SHGC-172572;SHGC-34055 ERK;ERK2;ERT1;MAPK2;P42MAPK;PRKM1;PRKM2;p38;p40;p41;p41mapk ERK-2;MAP kinase 1;MAP kinase 2;MAP kinase isoform p42;MAPK 2;OTTHUMP00000028754;OTTHUMP00000174492;extracellular signal-regulated kinase 2;mitogen activated protein kinase 1;mitogen-activated protein kinase 1;mitogen-activated protein kinase 2;p42-MAPK;protein tyrosine kinase ERK2 APPROVED protein-coding ENSG00000100030 6871 01496 176948 REVIEWED 1345501 MAPK6PS6 mitogen-activated protein kinase 6 pseudogene 6 10 10 10 q11.23 44565707 44569062 + 50649039 50652570 + 50979109 50982464 + 12504858 282967 ABBA01041068;AC069546;AMYH01002642;NG_002449 pseudo 18978 INFERRED 736964 MAPK4 mitogen-activated protein kinase 4 Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus where it phosphorylates nuclear targets. [provided by RefSeq, Jul 2008] 18 18 q21.1 46340482 46512194 + 48086484 48258196 + 1580863;6480464 7969157;18463290;18235225;18070930;16973613;16360641;12477932;9069255;8607977;8290275;7601337;1319925;12239168;12008033;18720373;19473979;21177870;21317288;21675959;22505454 5596 A1A4C4;B4DEW2;K7ELV1;K7EN18;P31152;Q0VG04 ABBA01018672;ABBA01018673;ABBA01018674;AC012433;AC090395;AC090638;AI088913;AK293818;AK295058;AK303601;AMYH01008999;BC040493;BC050299;BC117216;BC143769;CH471096;NM_002747;X59727 AAH50299;AAI17217;ADR83381;BAG57223;BAG58107;BAG64616;CAA42411;EAW62976;EAW62977;NP_002738;P31152 Hs.433728 1649359;1679626;1686492;1694560;1707836;1719683;1721615;1751535;1767068;2124817;2135694;2171478 D18S962;G43235;G59817;RH123531;RH80094;RH80975;SHGC-105304;SHGC-30831;SHGC-82149;STS-R37298;STS-T28761;STS-X59727 ERK-4;ERK3;Erk4;MAPK 4;PRKM4;p63MAPK ERK-4;Erk3-related;MAP kinase 4;MAP kinase isoform p63;MAPK 4;extracellular signal-regulated kinase 4;mitogen activated protein kinase 4;mitogen-activated protein kinase 4;p63-MAPK APPROVED protein-coding ENSG00000141639 6878 01497 176949 REVIEWED 619564 MAPK14 mitogen-activated protein kinase 14 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 6 6 p21.3-p21.2 36103551 36186513 + 35995454 36079013 + 1302548;1580863;1300048;1302590;1302580;1580544;2293891;2311567;2311566;2311565;5135029;6480464;6484113;6907045;6218988 11593045;10943842;10949032;16407200;17481747;18579738;19066844;19617408;21641970;21894146 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1432 B4E0K5;B5TY33;E7EX54;H7C4E2;L7RSM2;Q16539 AB074150;ABBA01038249;ABBA01038250;ABBA01038251;AF100544;AK291709;AK303414;AMYH01016270;BC000092;BC031574;BT006933;CH471081;CR536505;DA438432;EU332860;FJ032367;FJ032368;JX512452;L35263;L35264;NM_001315;NM_139012;NM_139013;NM_139014;U19775;Z25432;Z95152 AAA57455;AAA57456;AAC50329;AAF36770;AAH00092;AAH31574;AAP35579;ABY87549;ACI00233;ACI00234;AGC09599;BAB85654;BAF84398;BAG64467;CAA80919;CAG38743;EAX03867;EAX03868;EAX03869;EAX03870;EAX03871;EAX03872;EAX03873;NP_001306;NP_620581;NP_620582;NP_620583;Q16539 Hs.485233 1342261;1659174;1671566;1678359;1680914;1714715;1778148;1796298;1852948;2133597;2133599;2142206;2173680 A006I20;D3S2320;D6S1210E;D6S1848;G20844;MAPK14_184;RH120022;RH17930;RH37452;RH46846;RH80957;STS-AA022950;STS-L35253 CSBP;CSBP1;CSBP2;CSPB1;EXIP;Mxi2;PRKM14;PRKM15;RK;SAPK2A;p38;p38ALPHA CSAID-binding protein;CSBP;Csaids binding protein;MAP kinase 14;MAP kinase Mxi2;MAP kinase p38 alpha;MAPK 14;MAX-interacting protein 2;OTTHUMP00000216561;OTTHUMP00000216562;OTTHUMP00000216563;OTTHUMP00000216564;OTTHUMP00000216566;cytokine suppressive anti-inflammatory drug binding protein;cytokine suppressive anti-inflammatory drug-binding protein;mitogen-activated protein kinase 14;mitogen-activated protein kinase p38 alpha;p38 MAP kinase;p38 mitogen activated protein kinase;p38alpha Exip;stress-activated protein kinase 2A APPROVED protein-coding ENSG00000112062 6876 02619 600289 REVIEWED 1322925 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1-like 14 14 14 q22.3 35567856 35586404 + 54588115 54606665 + 55518362 55536912 + 6480464 12011110;8619474;17081983;16189514;15489334;14702039;12508121;12477932;17207965;21139048 93487 Q8NDC0 ABBA01018201;AK025580;AK054650;AK315501;AL139316;AL834285;AMYH01005744;BC015621;CH471061;NM_144578;U90909 AAH15621;ADQ33151;BAG37885;CAD38959;EAW80656;EAW80657;NP_653179;Q8NDC0 Hs.594338 1643998;1666162;1673691;1688104;1688552;1698696;1782006;1787854;2123072;2135711;2149677;2166179;2171496;2176386;2176448;2179603;2183354;5014051;5016478;5018951;5037552;5093994 A006P30;A010A14;D14S1293;D8S2278;D8S2279;G33044;G35628;G42230;GDB:434012;RH102908;RH41012;RH44362;RH48168;RH68520;RH79653;SGC34709;SHGC-132642;SHGC-147156;SHGC-31047;SHGC-36814;SHGC-36859;WI-15641 C14orf32;MGC23138;MISS;c14_5346 MAPK-interacting and spindle-stabilizing protein;MAPK-interacting and spindle-stabilizing protein-like;OTTHUMP00000244925;mitogen activated protein kinase 1 interacting protein 1-like;mitogen-activated protein kinase 1-interacting protein 1-like protein-coding 19840 12647 VALIDATED 1345735 MAPK7 mitogen-activated protein kinase 7 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 p11.2 19221659 19227445 + 19281034 19286857 + 1580863;2298794;2298796;2298532;6480464;6907045 11782488;18071319;16376520 22213073;7646528;7759517;16626623;16456541;17322878;19089993;18973138;18716062;18567890;18472963;18322228;18280112;17998143;17692050;17624732;17567985;17452529;17342168;17272811;17148583;17131384;17052197;17018293;9858528;9790194;9753748;9535909;9535905;9461566;9384584;8631994;12239168;12659851;12628002;16950928;16941494;16835228;16735500;16344560;16316418;16166637;15994942;15716121;15692064;15608616;15548525;15075238;14718574;14679215;14583600;12637502;12477932;12091247;12048211;12042304;11948414;11739740;11544482;11278431;11254654;11139578;10849446;10781600;10531364;10473620;10072598;19913121;20628086;21266977;21166929;20936779;20736307;20736311;20832753;20729331;20643107;20551324;19011954;19304531;19414528;19440538;19605361;19666008;19823867;19855844;20232315;20237496;20538799;15276183;20956558;20628425;20830310;21187442;20687930;23043106;18588859;21767578;21832049;23608189;23824909;21820407;21483099;21848643;22260700;22154052;16177794;21988832;22939624;23382384;23428871;21394196;23321517;22707717 5598 C9JUK9;I3L0J8;J3KT50;J3KT61;Q13164 AB209611;ABBA01054609;AC124066;AK295376;AMYH01008233;AY534741;BC007404;BC007992;BC009963;BC030134;BP871947;CH471212;DA452383;DB133227;NM_002749;NM_139032;NM_139033;NM_139034;U25278;U29725;U29726;U29727 AAA81381;AAA82931;AAA82932;AAA82933;AAH07404;AAH07992;AAH09963;AAH30134;AAS38577;ADR82751;BAD92848;BAG58335;EAW50883;EAW50884;EAW50885;EAW50886;EAW50887;NP_002740;NP_620601;NP_620602;NP_620603;Q13164 Hs.150136 1657872;1681913;1850159;2191425;2218562;5492261;7185892 D17S1287;MAPK7_4125;MARC_21800-21801:1025034309:1;Mapk7;RH64914;RH79913;STS-U29725 BMK1;ERK4;ERK5;PRKM7 BMK-1;BMK1 kinase;ERK-5;MAP kinase 7;MAPK 7;OTTHUMP00000065906;OTTHUMP00000065907;big MAP kinase 1;extracellular signal-regulated kinase 5;extracellular-signal-regulated kinase 5;mitogen-activated protein kinase 7 APPROVED protein-coding ENSG00000166484 6880 03952 602521 REVIEWED 733615 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011] 11 11 p11.2 45863778 45884592 + 45907047 45928016 + 633194;1580863;1579811;2293880;6480464;6907045;7240710 9442013;15816852;17726577 11238452;11726277;9933567;10574993;18480379;18286207;17200414;16301330;15998799;15911620;15894166;15868948;15138488;14507925;12937412;12917434;12893827;12783873;12756254;12740599;12665528;12563035;12524447;12477932;12194869;12064607;12024021;11912189;11790792;11724784;11700324;11585908;11517249;11147798;10827173;10748095;10700186;10629060;10490659;9733513;9235893;9110174;8619474;12508107;16169070;18055217;20205790;11907332;16456539;17709393;19491104;19616077;21237154;23360921;16273093;16840345;23172226;16533805;20173330 9479 E9PBB9;Q6NUQ9;Q9UQF2 AB209720;ABBA01060758;AC068385;AF007134;AF074091;AK293637;AK295942;AMYH01003530;AMYH01003531;AMYH01003532;BC035920;BC068470;BI548334;CH471064;DB473314;NG_012153;NM_005456 AAC19150;AAD20443;AAH68470;BAD92957;BAG58726;BAH11553;EAW68027;EAW68028;NP_005447;Q9UQF2 Hs.234249 1700176;1730173;1760995;2145254;5122207 D11S946E;RH103702;RH64899;RH78669;SHGC-144940 IB1;JIP-1;JIP1;PRKM8IP C-Jun-amino-terminal kinase-interacting protein 1;IB-1;JNK MAP kinase scaffold protein 1;JNK-interacting protein 1;OTTHUMP00000166057;OTTHUMP00000166058;PRKM8 interacting protein;islet-brain 1;mitogen-activated protein kinase 8-interacting protein 1 APPROVED protein-coding ENSG00000121653 6882 05223 125853;604641 REVIEWED 1351126 MAPK8IPP mitogen-activated protein kinase 8 interacting protein, pseudogene 17 17 q21.31 41676791 41678944 + 44320972 44322410 + 9933567;9933567 644253 AC005829;AC127032;AC139677;AMYH01008444;NG_022469 1730173 D11S946E PRKM8IPP pseudo 6885 INFERRED 733646 MAPK6 mitogen-activated protein kinase 6 The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008] 15 15 q21 50098739 50145754 + 52311411 52358462 + 1580863;6480464 2032290;22261722;22645313;16964379;16344560;15489334;15226418;15172640;12915405;12808096;12477932;11741894;11148204;8875998;8626698;8621539;7969157;12239168;20936779;18720373;21139048;21890473;21900206;21906983;19322201;21628590 5597 Q16659 AB451301;ABBA01039069;AC023906;AC090970;AF420474;AK313633;AMYH01006648;AMYH01006649;BC035492;CH471082;CR749401;DA109756;L77964;NM_002748;X80692 AAA98769;AAH35492;AAL17605;ABM82544;ABM85736;BAG36392;BAG70115;CAA56709;CAH18246;EAW77434;NP_002739;Q16659 Hs.411847 1694630;2217592;5014719;5096042;5113126;5124915 FB21D1;G19713;G43355;MAPK6_180.2;RH39451;RH66852 DKFZp686F03189;ERK3;HsT17250;PRKM6;p97MAPK ERK-3;MAP kinase 6;MAP kinase isoform p97;MAPK 6;OTTHUMP00000162717;extracellular signal-regulated kinase 3;extracellular signal-regulated kinase, p97;mitogen-activated protein kinase 6;p97-MAPK;protein kinase, mitogen-activated 5;protein kinase, mitogen-activated 6 APPROVED protein-coding ENSG00000069956 6879 04213 602904 REVIEWED 619570 MAPK3 mitogen-activated protein kinase 3 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 p11.2 30032927 30042131 - 30125426 30134630 - 1580863;1357969;737801;1626216;6480464;6484113;6907045 12835716;10558995;17310240 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5595 B3KR49;E9PBK7;E9PJF0;E9PQW4;E9PRH7;H0YDH9;H0YEX6;L7RXH5;P27361;Q9BWJ1 ABBA01013103;AC012645;AJ222708;AK091009;AK307995;AMYH01007497;AY033607;AY033608;BC000205;BC013992;BX537897;CH471238;DA351318;DQ399291;EU332853;HC462820;M84490;NG_029936;NM_001040056;NM_001109891;NM_002746;X60188;Z11696 AAA36142;AAH00205;AAH13992;AAK52329;AAK52330;ABD60302;ABM84366;ABM87777;ABY87542;BAG52261;CAA42744;CAA77754;CAD97888;CBK51145;EAW79912;EAW79913;EAW79914;EAW79915;EAW79916;EAW79917;NP_001035145;NP_001103361;NP_002737;P27361 Hs.861 1662843;1684726;1687037;1797848 G15873;MAPK3_2268;RH77963;SHGC-61070 ERK-1;ERK1;ERT2;HS44KDAP;HUMKER1A;MGC20180;P44ERK1;P44MAPK;PRKM3;p44-ERK1;p44-MAPK ERK-1;ERT2;MAP kinase 1;MAP kinase 3;MAP kinase isoform p44;MAPK 1;MAPK 3;OTTHUMP00000163018;OTTHUMP00000174538;OTTHUMP00000174539;OTTHUMP00000174540;OTTHUMP00000174541;OTTHUMP00000233574;OTTHUMP00000233575;OTTHUMP00000233577;extracellular signal-regulated kinase 1;extracellular signal-related kinase 1;insulin-stimulated MAP2 kinase;microtubule-associated protein 2 kinase;mitogen-activated protein kinase 1;mitogen-activated protein kinase 3;p44-ERK1;p44-MAPK APPROVED protein-coding ENSG00000102882 6877 03479 601795 REVIEWED 732271 MAPK8 mitogen-activated protein kinase 8 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jun 2013] 10 10 q11.22 49279693 49313189 + 49609687 49643183 + 1581694;1582310;1582313;1580863;1582325;1582316;1582317;1582311;1582329;1582315;2298577;2298561;2293875;5490968;6480464;6484113;6907045;6218988 15608632;16699462;16311603;15797868;12668503;10773432;15309413;11435459;15302844;17064355;10051439;17306896;20699612;21894146 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5599 A1L4K2;A6NF29;C9J762;C9JWQ4;P45983;Q308M2 AA808177;AB451231;AB451271;AB451354;AB451398;ABBA01047222;AC016397;AC074325;AK292523;AL137667;AMYH01002636;BC130570;BC130572;BC144063;CH471187;DA159335;DQ234352;L26318;NG_029053;NM_001278547;NM_001278548;NM_002750;NM_139046;NM_139047;NM_139049;U34822;U35004;U35005 AAA36131;AAC50607;AAC50610;AAC50611;AAI30571;AAI30573;AAI44064;ABB29981;ADR83167;BAF85212;BAG70045;BAG70085;BAG70168;BAG70212;EAW93129;EAW93130;EAW93131;EAW93132;EAW93133;EAW93134;EAW93135;EAW93136;EAW93137;EAW93138;NP_001265476;NP_001265477;NP_002741;NP_620634;NP_620635;NP_620637;P45983 Hs.138211;Hs.522924 1653647;2118276;2121024;2143357;2151805;2158579;2172214;2173400;2190993;2191017 A004M36;D10S2185;G17482;G17487;HSC1IF052;MARC_12374-12375:997362452:1;MARC_13424-13425:1002294866:1;RH69616;STS-L26318;STS-T94087 JNK;JNK-46;JNK1;JNK1A2;JNK21B1/2;PRKM8;SAPK1;SAPK1c JNK-46;JNK1 alpha protein kinase;JNK1 beta protein kinase;JUN N-terminal kinase;MAP kinase 8;MAPK 8;OTTHUMP00000019552;OTTHUMP00000019555;OTTHUMP00000019556;OTTHUMP00000019558;c-Jun N-terminal kinase 1;mitogen-activated protein kinase 8;mitogen-activated protein kinase 8 isoform JNK1 alpha1;mitogen-activated protein kinase 8 isoform JNK1 beta2;protein kinase JNK1;stress-activated protein kinase 1;stress-activated protein kinase 1c;stress-activated protein kinase JNK1 APPROVED protein-coding ENSG00000107643 6881 03100 601158 REVIEWED 1347522 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 16 16 p13.3 1696222 1760319 + 1756221 1820318 + 1580863;2293339;2293880;6480464;6907045 16805806;17726577 16368877;16341674;16141199;15911620;15616553;15532711;15302935;15146197;14702039;12477932;12189133;11738026;11274738;11214971;11157797;11044439;10629060;10523642;12226752;16169070;10470851;11106729;11024282;12941697;14968112;16456539;19036714;19574423;20018857;20946988;21775604;16147992;22072677;21697133;15258908;20173330 23162 E9PFH7;H3BN91;Q9UPT6 AB028989;AB621811;ABBA01030296;ABBA01030297;ABBA01030298;ABBA01030299;AC012180;AE006639;AI291346;AK024437;AL031710;AL031717;AL031718;AMYH01007039;AMYH01007040;BC087861;BC137123;BC137124;BC144486;BC150266;BM791368;BQ083050;BQ231003;BQ961808;BY795428;CA776361;CD557812;CH471112;CN361410;CN405914;CN405915;CR749696;NM_001040439;NM_015133 AAI37124;AAI37125;AAI44487;AAI50267;AAK61290;BAA83018;BAB15727;BAK64147;CAB72318;CAH18476;EAW85630;EAW85631;EAW85632;EAW85633;NP_001035529;NP_055948;Q9UPT6 Hs.207763 2117786;2220256 AB071076;SHGC-64938 DKFZp762N1113;FLJ00027;JIP3;JSAP1;KIAA1066;SYD2;syd C-Jun-amino-terminal kinase-interacting protein 3;C-jun-amino-terminal kinase interacting protein 3;JIP-3;JNK MAP kinase scaffold protein 3;JNK-interacting protein 3;JNK/SAPK-associated protein-1;JNK/stress-activated protein kinase-associated protein 1;OTTHUMP00000158803;homolog of Drosophila Sunday driver 2;mitogen-activated protein kinase 8-interacting protein 3 APPROVED protein-coding ENSG00000138834 6884 12014 605431 REVIEWED 1320222 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34915169 34926024 + 49385997 49396845 + 51039131 51049979 + 1580863;2293891;2293880;6480464;6907045 17481747;17726577 10490659;12023290;12244047;10756100;16456539;15489334;12529303;12524447;12477932;12024021;11378392;10827173;10629060;10591208;9110174;8889548;8619474;12508107;16169070;12893827;21048139;21900206;21890473;20173330 23542 A8MTJ1;C9JXW5;F6SWM5;J3KNN6;Q13387 ABBA01042622;ABBA01042623;ABBA01042624;AF136382;AF218778;AK293580;AK294265;AL021708;AMYH01012918;BC009940;BC037271;BC047527;BU732443;CH471138;NG_032955;NM_012324;NM_016431;U62317;U79261 AAB03340;AAB50207;AAF00980;AAF32323;AAH09940;AAH47527;ACE87814;ACT64536;BAG57050;BAG57558;CAA16714;EAW73577;EAW73578;EAW73579;EAW73580;NP_036456;NP_057515;Q13387 Hs.558180 1748377;1773609 G65735;SHGC-2955 IB2;JIP2;PRKM8IPL C-Jun-amino-terminal kinase-interacting protein 2;IB-2;JIP-2;JNK MAP kinase scaffold protein 2;JNK MAP kinase scaffold protein JIP2;JNK-interacting protein 2;OTTHUMP00000196549;OTTHUMP00000196550;PRKM8 interacting protein-like;homologous to mouse JIP-1;islet-brain 2;islet-brain-2;mitogen-activated protein kinase 8-interacting protein 2 APPROVED protein-coding ENSG00000008735 6883 09674 607755 REVIEWED 7241985 MAPKAPK5P1 mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1 100533849 ABBA01063046;AL356476;AMYH01003052;NG_028758 pseudo 45246 INFERRED 1313344 MAPKAP1 mitogen-activated protein kinase associated protein 1 This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008] 9 9 q33.3 127239494 127509334 - 128199673 128469513 - 1580863;2308795;6480464;6484113 19339977 1849280;15718470;18687895;18316587;17303383;17081983;17054722;17043309;16962653;16919458;16189514;16000324;15988011;15722200;15489334;15363842;15324660;12477932;15778465;19913121;20628086;21170086;19851296;20198315;20379614;19875983;22990118;21757730;18566587;21177249;17314511;17461779;20832730;21045808;21139048;22505404 79109 B1AMA5;B1AMA6;B1AMB1;B1AMB2;B7Z5E5;E9PGB8;H0Y7F8;H0Y866;Q658R0 ABBA01043789;ABBA01043790;ABBA01043791;AK290060;AK295364;AK298841;AK309507;AK310361;AK316149;AL162584;AL358074;AL359632;AL833042;AMYH01021711;AMYH01021712;AY425957;AY524429;AY524430;AY524431;AY524432;AY633624;AY633625;AY633626;BC002326;BC003044;BC035236;BX438260;CH471090;M37191;NM_001006617;NM_001006618;NM_001006619;NM_001006620;NM_001006621;NM_024117 AAA36551;AAH02326;AAH03044;AAR07950;AAS90839;AAS90840;AAS90841;AAS90842;AAT46478;AAT46479;AAT46480;ABM83654;ABW03519;BAF82749;BAH12045;BAH12881;BAH14520;CAH56311;EAW87630;EAW87631;EAW87632;EAW87633;NP_001006618;NP_001006619;NP_001006620;NP_001006621;NP_001006622;NP_077022;Q9BPZ7 Hs.495138 1675161;1786920;1786938;1786946;1787180;1848999;2140957;2141349;2159142;2161494 D9S1113;D9S1925;RH41772;SHGC-133110;SHGC-142173;SHGC-142548;SHGC-79850;STS-H61698;WI-14903;WI-18185 JC310;MGC2745;MIP1;SIN1;SIN1b;SIN1g MEKK2-interacting protein 1;OTTHUMP00000022135;OTTHUMP00000022137;OTTHUMP00000022139;OTTHUMP00000022140;OTTHUMP00000022141;OTTHUMP00000215289;SAPK-interacting protein 1;TORC2 subunit MAPKAP1;mSIN1;mitogen-activated protein kinase 2-associated protein 1;ras inhibitor MGC2745;stress-activated map kinase interacting protein 1;stress-activated map kinase-interacting protein 1;stress-activated protein kinase-interacting 1;target of rapamycin complex 2 subunit MAPKAP1 APPROVED protein-coding ENSG00000119487 18752 17464 610558 REVIEWED 1606829 MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q32 204924912 204974249 + 206858365 206907630 + 2315047;6480464;6484113;6907045 16421520 8995217;8617238;16278218;17255097;17292828;8280084;8179591;11520933;9297626;8846784;19171422;18326031;17481585;16861915;16774924;16424170;16407830;15692053;15629715;15489334;15287722;15271996;15094067;14688255;14499342;12861023;12829704;12791252;12751751;12582162;12477932;12456657;12377770;12171911;12171600;12147348;11844797;11551945;11448140;11359875;11042204;10781029;10779545;10753652;10559880;10318869;9768359;9759836;9628873;8995385;22268119;8887554;8413226;7923354;7905823;7901013;7799959;7592979;6150037;1332886;9687510;15688025;20595389;14517288;15014438;20805296;20375303;20932473;21078877;19951368;15276183;19672773;20068172;20081887;20212154;22983351;21131586;21182205;18440775;11839738;23152511;21606198;10383393;12565831;16456544;23185379;15850461;22200507;21675959;22119462;19322201;22351694;21145461;22883146;23264053;17030608;21988832;23128233;23202365;18160429;18371353;8774846 9261 P49137 ABBA01010192;AK307499;AL591846;AMYH01001677;AMYH01001678;BC036060;BC052584;BU621009;CH471100;NG_029640;NM_004759;NM_032960;X75346 AAH36060;AAH52584;CAA53094;EAW93525;EAW93526;EAW93527;EAW93528;EAW93529;EAW93530;EAW93531;EAW93532;NP_004750;NP_116584;P49137 Hs.643566;Hs.713747 1761677;1768992;2121962;2131462;2165000;2169689;2181618 AL010045;D1S3257;RH70191;RH70252;SHGC-145653;SHGC-34637;SHGC-76226 MAPKAP-K2;MK-2;MK2 MAP kinase-activated protein kinase 2;MAPK-activated protein kinase 2;MAPKAP kinase 2;MAPKAPK-2;OTTHUMP00000034531;OTTHUMP00000034532 APPROVED protein-coding ENSG00000162889 6887 11882 602006 REVIEWED 2824416 MAPRE1P1 MAPRE1 pseudogene 1 8 8 q 132807959 132810407 - 136635827 136638275 - 11161807 80327 ABBA01012694;AC104371;AF288786;AMYH01019045;NG_002682 MAPRE1P pseudo 29624 INFERRED 3184476 MAPRE1P2 MAPRE1 pseudogene 2 4 4 4 p15.1 33452151 33452951 - 32688715 32689762 - 33010889 33013440 - 20031603 642305 ABBA01074268;AC017013;AMYH01014101;NG_028945 1794588 PMC321570P4 pseudo 37761 INFERRED 5684449 MAPRE1P3 MAPRE1 pseudogene 3 2 166141763 166142555 + 100422229 ABBA01004917;AC011303;AMYH01011227;NG_031906 pseudo 37762 INFERRED 1312732 MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011] 3 3 p21.3 50629605 50661723 + 50649293 50686728 + 1580863;2315047;6480464;6907045 16421520 22087225;10781029;11520933;9297626;8626550;8846784;19367581;19208361;15563468;15489334;15302577;12477932;12171600;11975836;11157753;9207191;8943323;8774846;8622688;8603390;17894482;19937655;15276183;19913121;20628086;17207965;21832049;16341674;15850461;21900206;19953087;22505724;21988832;23000965;23487458;23127979 7867 C9J8E1;C9JPW3;H7C0G6;Q16644 AB451303;AB451434;ABBA01024542;ABBA01024543;AC096920;AK290969;AK313565;AMYH01013175;AMYH01013176;BC001662;BC007591;BC010407;BC068497;BE301676;BM848086;CH471055;DB450001;NM_001243925;NM_001243926;NM_004635;U09578;U43784 AAC50428;AAD09136;AAH01662;AAH07591;AAH10407;ACE87034;ACE87718;ADQ32312;BAF83658;BAG36339;BAG70117;BAG70248;EAW65131;EAW65132;EAW65133;NP_001230854;NP_001230855;NP_004626;Q16644 Hs.234521;Hs.735013 1664597;1680537;1793456;1793478;2107313;2112644;2146132 D3S4383;MAPKAPK3__7370;PMC22669P1;PMC22669P2;RH70632;RH93496;WI-13560 3PK;MAPKAP-K3;MAPKAP3;MAPKAPK-3;MK-3 MAP kinase-activated protein kinase 3;MAPK-activated protein kinase 3;MAPKAP kinase 3;MAPKAPK-3;OTTHUMP00000210805;OTTHUMP00000210806;OTTHUMP00000210807;chromosome 3p kinase APPROVED protein-coding ENSG00000114738 6888 03678 602130 REVIEWED 736023 MAPK9 mitogen-activated protein kinase 9 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008] 5 5 q35 179595390 179640216 - 179660594 179719071 - 1580863;1582314;1300048;1302568;2298577;2304231;2298561;2293875;6480464;6484113;6907045 15567863;10559486;17064355;18081878;10051439;17306896 7737129;602896;12775419;8654373;15158451;18262097;7969172;19651615;19620725;19596001;19385049;19339050;19097143;19093167;18950845;18940813;18838864;18801372;18612143;18586006;18439101;17908987;17785791;17637567;17397142;17296730;17192257;17074809;16552729;16412424;16381010;16189514;16169070;15911620;15860507;15778501;15693750;15655348;15637069;15527495;15489334;15474087;15326485;15262983;14724588;14504284;12818176;12788955;12743126;12538493;12477932;12417588;12225289;12189133;12171600;12167088;12110590;12023963;11959861;11948398;11602244;11566021;11527157;11359773;11278789;11278395;11172026;11062067;11057897;11042694;11024282;10811224;10797012;10669748;10629060;10523642;10490605;10471813;10381549;9732264;9628874;9405416;9393873;9374467;9130707;8945519;8649858;8626452;8548291;8001819;21364637;1602151;15603708;9045910;16481105;12960231;12857973;12239168;11698270;11468147;12714584;15246824;22366412;8985011;12089333;11504923;9403476;12384512;12151396;9019171;7642542;11279232;10490659;9733513;11749722;9155018;20525557;20595622;19776015;21110917;10878576;16533805;18423204;19154785;19567513;19589256;19591174;19806201;19864026;19906316;19913278;19996270;20056178;20354187;20379614;20432452;20483637;15276183;16611996;20936779;19527717;22910906;22939629;23071284;20871632;21384452;15184502;10383391;17189706;19153595;19910486;16824735;21357683;10376527;21504622;21572099;21749326;21139048;21890473;21900206;21906983;21629969;22318606;22105759;14581471;22217202;22748923;12228228;12821118;15629715;17875713;19060904;19204086;21988832;23171849;23341463;8846788;22730327;15998799;19667122;22505724;23273084 5601 D7R525;D7R528;E5RJ57;H7BYK0;J3KNK1;Q15711 AB451302;AB451355;AB451433;ABBA01010059;ABBA01010060;ABBA01010061;ABBA01010062;ABBA01010063;AC008610;AC104115;AK289638;AMYH01015965;AMYH01015966;BC032539;BQ025589;CH471165;CR536580;DB451562;DQ066599;EU927388;HM036706;HM036707;HM036708;HM036709;L31951;NG_029059;NM_001135044;NM_002752;NM_139068;NM_139069;NM_139070;U09759;U34821;U35002;U35003 AAA56831;AAA74740;AAC50606;AAC50608;AAC50609;AAH32539;AAY46156;ABM84639;ABW03645;ACH57450;ADH10365;ADH10366;ADH10367;ADH10368;BAF82327;BAG70116;BAG70169;BAG70247;CAG38817;EAW53757;EAW53758;EAW53759;EAW53760;EAW53761;EAW53762;EAW53763;EAW53764;EAW53765;NP_001128516;NP_002743;NP_620707;NP_620708;NP_620709;P45984 Hs.484371 1687013;1688297;1717441;1730345;1735460;1750245;1762521;1763481;1785724;1797850;2166545;2172536;2172724;2185297 1806;D5S1584E;D5S1618E;D5S2449;D5S445E;MAPK9_2236;RH122211;RH15681;RH36378;RH80226;SHGC-112628;SHGC-146334;SHGC-147181;SHGC-80682 JNK-55;JNK2;JNK2A;JNK2ALPHA;JNK2B;JNK2BETA;PRKM9;SAPK;SAPK1a;p54a;p54aSAPK Jun kinase;MAP kinase 9;MAPK 9;OTTHUMP00000161542;OTTHUMP00000161543;OTTHUMP00000224159;OTTHUMP00000224168;OTTHUMP00000224169;OTTHUMP00000224170;c-Jun N-terminal kinase 2;c-Jun kinase 2;mitogen-activated protein kinase 9;stress activated protein kinase alpha ii;stress-activated protein kinase 1a;stress-activated protein kinase JNK2 APPROVED protein-coding ENSG00000050748 6886 04206 602896 REVIEWED 2292059 MAPKAPK5-AS1 MAPKAPK5 antisense RNA 1 12 12 12 q24.12 111903036 111906169 - 110761956 110765089 - 112277573 112280706 - 6480464 14702039;12477932 51275 Q8N8E1 ABBA01019911;AC003029;AF229831;AK096935;AMYH01004752;BC007973;BC015633;BC023547;BC032560;CH471054;NR_015404 AAF42916;BAC04904;EAW97977;EAW97978;Q8N8E1 Hs.333120 1682834;5493189 RH15759;UniSTS:484688 C12orf47;FLJ39616 APPROVED miscrna ENSG00000234608 24091 16946 PREDICTED 1354160 MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012] 12 12 q24.13 110764662 110815611 + 112280279 112331228 + 2315047;6480464;6907045 16421520 9628874;17254968;19166925;15489334;14702039;12808055;12477932;12171600;12130507;12117915;10978317;10708586;9480836;9468497;8636128;20849292;17894482;18029348;18720373;19473979;19484198;20936779;21177870;21336308;21675959;21628590;21900206;19953087;22279049;23022185 8550 F8VRP2;Q8IW41;R4GN33;R4GN93 ABBA01019911;ABBA01019912;ABBA01019913;ABBA01019914;ABBA01019915;AC003029;AF032437;AK122767;AL110301;AMYH01004752;AW780199;BC000833;BC041049;BC047284;BG502445;CH471054;NM_003668;NM_139078 AAC39863;AAH00833;AAH41049;AAH47284;BAG53717;CAB53747;EAW97979;EAW97980;EAW97981;NP_003659;NP_620777;Q8IW41 Hs.333120;Hs.413901 1666597;1779039;2108237;2171613;5093788 A009W37;D12S1333;G32924;MAPKAPK5_8828;RH17458 MAPKAP-K5;MK-5;MK5;PRAK MAP kinase-activated protein kinase 5;MAPK-activated protein kinase 5;MAPKAP kinase 5;MAPKAPK-5;OTTHUMP00000241666;OTTHUMP00000241669;p38-regulated/activated protein kinase APPROVED protein-coding ENSG00000089022 6889 09467 606723 REVIEWED 1604640 MAPKBP1 mitogen-activated protein kinase binding protein 1 15 15 15 q15.1 18834268 18887696 + 39854004 39907345 + 42066632 42120053 + 6480464 16713569;15491607;14702039;12477932;10471813;9628581;19913121;20628086;22700971 23005 C9JL14;D6R9F7;D6RAI2;D6RHX7;F8WC21;O60336 AB011168;AB177850;ABBA01038386;ABBA01038387;ABBA01038388;ABBA01038389;AC020659;AC073657;AK091616;AK292414;AK302482;AL833267;AMYH01006576;AMYH01006577;BC036660;BC113983;BC114493;BX640787;BX648786;CH471125;NM_001128608;NM_001265611;NM_014994;NR_049761;NR_049762 AAH36660;AAI13984;AAI14494;BAA25522;BAD66828;BAF85103;BAG63769;EAW92514;EAW92515;EAW92516;EAW92517;EAW92518;EAW92519;NP_001122080;NP_001252540;NP_055809;O60336 Hs.513661 1747845;1768914;1783192;1849353;2114144 A004M13;G66816;NIB1403;RH77834;SHGC-144837 JNKBP-1;MGC138851;MGC138852 JNK-binding protein 1;JNKBP-1;OTTHUMP00000217816;OTTHUMP00000217817;OTTHUMP00000217820;mitogen activated protein kinase binding protein 1;mitogen-activated protein kinase binding protein 1-like;mitogen-activated protein kinase-binding protein 1 protein-coding ENSG00000137802 29536 17465 VALIDATED 5688574 MAPT-IT1 MAPT intronic transcript 1 (non-protein coding) 17 q21.31 43973149 43976164 + 14702039;16344560 100130148 Q8NB19 ABBA01031191;AC004139;AC010792;AC217771;AK091698;AMYH01008444;BF108492;BX544879;DA504438;DA789878;NG_007398;NR_024560 BAC03725 Hs.669307 miscrna 43741 VALIDATED 5688568 MAPT-AS1 MAPT antisense RNA 1 17 q21.31 43920722 43972879 - 12477932;8889548;21738487;22693459 100128977 ABBA01031190;ABBA01031191;AC003662;AC010792;AC217770;AC217771;AMYH01008444;AW205584;AW770488;BC018035;BM714794;BX544879;NR_024559 Hs.666302 1734406;2122405 D17S1380E;D17S1668 APPROVED miscrna 43738 VALIDATED 1343455 MAPRE3 microtubule-associated protein, RP/EB family, member 3 The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008] 2 2 p23.3-p23.1 27047029 27103591 + 27193525 27250087 + 1580863;6480464 17310996;19255245;16189514;16079286;15631994;15489334;14514668;12477932;11161807;10644998;10188731;9233623;15117959;16169070;19696028;20008324;20632835;18029348;19146815;21890473;21768326;23712260;20195357;22275434;23000965;23159740 22924 C9JB30;Q9UPY8 AB025186;ABBA01045192;AC013472;AF288787;AK312342;AMYH01010194;BC011557;CH471053;CR536523;CR541845;NM_012326;Y11174 AAH11557;AAK07556;AAK07557;AAY14653;ABM83231;ABM86430;BAA82958;BAG35263;CAA72060;CAG38760;CAG46643;EAX00660;EAX00661;EAX00662;EAX00663;EAX00664;EAX00665;EAX00666;NP_036458;Q9UPY8 Hs.515860 1677678;1697390;1734788;1756557;1851484 D2S1562E;RH102194;RH12421;RH98551;SHGC-143589 EB3;EBF3;EBF3-S;RP3 APC binding protein;EB1 protein family member 3;OTTHUMP00000122582;OTTHUMP00000200909;OTTHUMP00000200910;OTTHUMP00000200911;end-binding protein 3;microtubule-associated protein RP/EB family member 3 APPROVED protein-coding ENSG00000084764 6892 16156 605788 REVIEWED 1354489 MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010] 4 4 4 q32.2 161777720 162636895 - 164668499 164754226 - 164445450 165304407 - 1580863;6480464 14702039;18389477;18305173;14722266;9847074;21490949;20379614;19117940;21896490;17540176;21757542;22508929 55016 A8K0Z6;B7Z739;D6REN1;D6RGC4;Q8TCQ1 ABBA01070272;ABBA01070273;ABBA01070274;ABBA01070275;ABBA01070276;ABBA01070277;ABBA01070278;ABBA01070279;AC079232;AC079240;AC092631;AC093788;AC098867;AC105250;AC108154;AC112247;AK000675;AK091335;AK289711;AK301408;AL713759;AMYH01014665;AV716666;AW118953;CH471056;NM_001166373;NM_017923 AAI48532;AAI53125;BAA91319;BAF82400;BAH13475;CAD28529;EAX04834;EAX04835;NP_001159845;NP_060393;Q8TCQ1 Hs.592804;Hs.608487 1335753;1644820;1644871;1651507;1651668;1653730;1672226;1675159;1678541;1695450;1705628;1711960;1714079;1722165;1725357;1726411;1729007;1749207;1755483;1756051;1761189;1763711;1764327;1768764;1784980;1790295;2123021;2127925;2130180;2132872;2146357;2156064;2164807;2169142;2174408;2174517 074ZH11;1026;A008U27;D4S1378;D4S2332;D4S2398;D4S2834;D4S3086;D4S3090;D4S866;G33654;G34235;G41991;G60133;G62506;Hspa5;KS702;RH118423;RH118996;RH119644;RH12318;RH93599;SHGC-110883;SHGC-112118;SHGC-142348;SHGC-142859;SHGC-145201;SHGC-147381;SHGC-147934;SHGC-32105;SHGC-57357;SHGC-68564;SHGC-83381;STS-M78266;STS-Z41099;WI-19849 DKFZp564M1682;FLJ20668;MARCH-I;RNF171 E3 ubiquitin-protein ligase MARCH1;OTTHUMP00000220027;OTTHUMP00000220028;OTTHUMP00000220029;OTTHUMP00000220284;RING finger protein 171;membrane-associated RING finger protein 1;membrane-associated RING-CH protein I APPROVED protein-coding ENSG00000145416 26077 07940 613331 VALIDATED 1353139 MAPRE1 microtubule-associated protein, RP/EB family, member 1 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008] 20 20 q11.1-q11.23 30871435 30901867 + 31407699 31438211 + 1580863;6480464;6484113 15631994;7606712;11943150;10773885;19255245;19126680;18937283;18477699;17968321;17002498;16030254;15616574;15592455;15489334;14514668;12857735;12686597;12477932;12475954;12388762;11780052;11701125;11470413;10899006;10811817;10644998;10226031;10188731;10030671;9724749;8889548;20205790;21319273;22277732;20696710;11076968;12221128;12852856;16462731;17350042;18029348;19543227;19632184;20008324;20508983;7790358;16455083;23251535;19737819;22735596;22863883;23455922;23595990;23824909;21832049;22748319;22898821;22939629;23001180;23128140;21737685;21768326;21562367;21737692;22467876;21139048;21890473;21906983;19738201;21565611;21963094;21988832;22623428;22869553;23000965;19696028;22543185 22919 Q15691 ABBA01019251;AK297273;AK310817;AK312590;AL035071;AMYH01011852;BC040410;BC106068;BC109281;BC128442;BJ992159;BM983860;CH471077;NM_012325;U24166 AAC09471;AAI06069;AAI09282;AAI28443;ACE87787;ACT64430;BAG35484;BAG59745;EAW76348;EAW76349;NP_036457;Q15691 Hs.472437 1671267;1784370;1794588;2141276;2164376;5015698;5111470 D17S2001;D5S1940;HSC03G092;PMC321570P4;RH18019;RH67821;SHGC-145265 EB1;MGC117374;MGC129946 APC-binding protein EB1;OTTHUMP00000030608;adenomatous polyposis coli-binding protein EB1;end-binding protein 1;microtubule-associated protein RP/EB family member 1 APPROVED protein-coding ENSG00000101367 6890 04379 603108 REVIEWED 1344538 MAPRE2 microtubule-associated protein, RP/EB family, member 2 The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 18 18 q12.1 30875389 30975813 + 32556892 32723434 + 1580863;6480464 9233623;18081319;17889670;17350042;17081983;16763565;16381901;16189514;16007168;15631994;15592455;15489336;15489334;14702039;14514668;12477932;12475954;12388762;11076863;10811817;10188731;10030671;9724749;11470413;7606712;11256614;16455083;19778897;19787265;20008324;20379614;21832049;22939629;22990118;17558393;11161807;11593399;19656400;20585629;21462343;22216133;8889548;22424550;21139048;21890473;19696028;22505724 10982 G5E9I6;K7EL66;K7ENB3;K7ERD8;M0QX52;Q15555 AB016823;ABBA01022453;ABBA01022454;AC009277;AC015967;AK090945;AK294833;AK296251;AK315766;AMYH01008936;BC007318;BM673789;BT020086;CH471088;CR536545;DC335558;DC341673;DC354326;DR422766;HI574148;NM_001143826;NM_001143827;NM_001256420;NM_014268;NR_046177;X94232 AAH07318;AAV38889;ABM83849;ABM87171;BAA83375;BAG38118;BAG52251;BAG58966;BAH11899;CAA63923;CAG38782;CAL38581;CBX47563;EAX01336;EAX01337;EAX01338;EAX01339;EAX01340;NP_001137298;NP_001137299;NP_001243349;NP_055083;Q15555 Hs.532824 1337862;1646946;1685800;1687792;1715197;1718835;1734552;1770261;1796302;2118258;2160490;2161889;2176137 D18S1139;D18S1232;D18S1305;D18S912E;D18S960;D18S995;G18017;MAPRE2_365;RH119849;RH12114;RH123121;RH36306;SHGC-63455 EB1;EB2;RP1 APC-binding protein EB1;APC-binding protein EB2;OTTHUMP00000163373;T-cell activation protein, EB1 family;end-binding protein 2;microtubule-associated protein RP/EB family member 2 APPROVED protein-coding ENSG00000166974 6891 16157 605789 REVIEWED 736496 MAPT microtubule-associated protein tau This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008] 17 17 q21.1 41327624 41461547 + 43971748 44105700 + 1300048;1358432;1302530;1358431;1302532;1302531;1580863;6480464;6484113;6907045;7240710 15524282;11520987;15494405;11117542;9641683 19559700;19665462;19782075;20471030;12509859;12505985;12492138;12477932;12476321;12473774;12470988;12464279;12435421;12387897;12387894;12368474;12368187;12325083;12231446;12226093;12220379;12212558;12198126;12177374;12144513;12112079;12082079;12070658;12056929;12032355;12000767;11988340;11971082;11971081;11959919;11959122;11958849;11939896;11921059;11912108;11906000;11891833;11889249;11861703;11852060;11837744;11831556;11831025;11826099;11812770;11706972;11698154;11641718;11601501;11585254;11456301;11391737;11313338;11311121;11278002;11264299;11255441;11220749;11181841;11162250;11117553;11117541;11104762;11089577;11071507;10899436;10840038;10822460;10802785;10767321;10762698;10737616;10604746;10534245;10514099;10489057;10464279;10412802;10393977;10391244;10374757;10214944;10208578;10090741;9973279;9922135;9836646;9832145;9789048;9771888;9736786;9735171;9689133;9636220;9629852;9614189;9565682;9546672;9512010;9353289;9326300;9199504;9147408;8999860;8910513;8632146;8546229;7936241;7931292;7706316;7684835;7567473;7566346;6743699;6304075;3131773;2833519;2516729;2495000;2484340;2123288;1915258;1723470;1713721;1512244;1420178;1330687;1181841;18292230;18248624;8620924;12176984;18430997;18413467;18395614;18382889;18380664;18359772;18351740;18338250;18322394;18319590;18318434;18312411;18307268;18307033;18284428;18272392;18234697;18216194;18210157;18185033;18184373;18182010;18177439;18166610;18163405;18162161;18093153;18072964;18070606;18065436;18052981;18038270;18022644;18007595;17986027;17976912;17954934;17951083;17932487;17925548;17920160;17914261;17908237;17898350;17889968;17826340;17822846;17727636;17721707;17707586;17685560;17683088;17662000;17661153;17637803;17608454;17602795;17562708;17561815;17555970;17517691;17514749;17512092;17499212;17493040;17409229;17389797;17386961;17385861;17376439;17373874;17362999;17357082;17341679;17311412;17309878;17307736;17304350;17274033;17266761;17204369;17192721;17192672;17186252;17185385;17179995;17176091;17174556;17172055;17169350;17166276;17135279;17101697;17085483;17084815;17078951;17072625;17056594;17045592;17042504;17029411;17028556;17023423;17021754;17008320;16987883;16958643;16943417;16939415;16930434;16914144;16909000;16908029;16906164;16906163;16902761;16891100;16879631;16877359;16876320;16875690;16839689;16818492;16807328;16793187;16788822;16781671;16777844;16753151;16738255;16735465;16734669;16717456;16690493;16687396;16678934;16651626;16634634;16609851;16606369;16566606;16552760;16519508;16503405;16487687;16478768;16478530;16477009;16475817;16475161;16464956;16464864;16456666;16443603;16420965;16415175;16410051;16386371;16371011;16362832;16362633;16315267;16251138;16246844;17565981;9763511;7566652;9736630;12888622;16446437;7972031;1918161;2498079;8522593;1057175;1389180;1421571;8642405;10747907;19558713;19523877;19450558;19429119;19371722;19324008;19308965;19304664;19273536;19264130;19255408;19240967;19236926;19232747;19226187;19224617;19190923;19165922;19158426;19153649;19126401;19112391;19091059;19090983;19074461;19070646;19057915;19039589;19022385;19011737;19010781;19001166;18992725;18992292;18991351;18985386;18971445;18948254;18940799;18930955;18930114;18925637;18854867;18848323;18843496;18841019;18830724;18806919;18805362;18803694;18803648;18803399;18785640;18768919;18765933;18725924;18702695;18679696;18671940;18662339;18661559;18658135;18641620;18640988;18636984;18596978;18588978;18587238;18586097;18583940;18562203;18561034;18558718;18541914;18511295;18509094;18500754;18495933;18495299;18490011;18467692;18460467;18458217;18445112;18431254;18431250;16240366;16226838;16226718;16225961;16221853;16195395;16182262;16176937;16165272;16157753;16129700;16125396;16115884;16114883;16042549;16023860;16020737;16014719;16005901;16000144;15997419;15994305;15975068;15973541;15963990;15963640;15953362;15950767;15940384;15878580;15869817;15855649;15855160;15848182;15823754;15823045;15822905;15795929;15792962;15765246;15750210;15746184;15733856;15732111;15721985;15671021;15652510;15638805;15627775;15596612;15570502;15546861;15542598;15532542;15525651;15509534;15489334;15477533;15475684;15464261;15459824;15385569;15376481;15372253;15365985;15356202;15345747;15302935;15297935;15293277;15283964;15266787;15249677;15240881;15228592;15228591;15201350;15198676;15178951;15178932;15178931;15140937;15126504;15121898;15115761;15106853;15096589;15083285;15075227;15053964;15034924;15020716;15009664;15004327;14999081;14993907;14991829;14991828;14991810;14967043;14966169;14963027;14769048;14769047;14761950;14730711;14702039;14697667;14660557;14627651;14615799;14612456;14600827;14595660;14594945;14572459;14523627;14517953;14503643;12975285;12963086;12937143;12932819;12925374;12911634;12883828;12872001;12853572;12847166;12826737;12811584;12796837;12765608;12756133;12714745;12710929;12678504;12649279;12641733;12629248;12590615;12573250;12565146;12527113;14636947;19356824;19573950;20549384;20838030;20838929;21738487;21450370;21492964;21530001;22232001;22337826;22367970;22460328;22496370;22532069;22539343;22613722;22764226;22490326;20379729;15447663;16434389;21098287;19749420;19926863;19943189;20143409;20520830;20574532;20606400;20711061;20711177;18315566;20061629;20097445;20133017;22109955;22344634;20415586;10899937;10987820;11303757;16143467;16275660;16364302;17318302;17723255;18276036;18403055;18462837;18668363;18946722;19307538;19365643;19401603;19433664;19450659;19478088;19491104;19498037;19517062;19524111;19525898;19527721;19540327;19542604;19549281;19560101;19591849;19625749;19647741;19654187;19667268;19681044;19684401;19686388;19691919;19693433;19730170;19730171;19736351;19766248;19768372;19770469;19786698;19794916;19812213;19826005;19858456;19879020;19889475;19895707;19897570;19912324;19914360;19915575;19919107;19923278;19936237;19938685;19940479;19959468;19961883;20004218;20005921;20020531;20070850;20085902;20133804;20157246;20171924;20193038;20219685;20357768;20437541;20498436;3111527;21342021;21342022;21388338;23087208;23554879;20974297;20478262;18771816;20579400;20679343;20720012;20159774;20375017;20377816;20460118;20466736;20599975;11166961;20359515;20665688;20800603;20805224;20837363;20876472;20930301;20951764;21044948;21044986;21058943;21063069;21073671;20045477;20473135;20615469;20650958;20683187;20862329;21123557;20571215;20921222;20921227;19157893;19542619;20805522;14962978;20513372;20658984;20658986;20658988;20658994;20658995;20658996;20663882;20837015;20881758;20926667;18631770;20301678;20927324;20927385;20236174;20544828;21157379;21575385;20561037;21054681;21127069;21061060;21085657;21339331;20660113;21062741;21062914;21081103;21176711;20538372;20538373;20620663;20708332;21210655;21321341;21325519;21281813;21482827;21489990;21498513;21613474;21613482;20599474;21698260;21755018;21763357;21135556;21212533;21333649;21403021;21343338;21343707;19221889;21391235;21131359;21292315;23019339;17512525;22867711;23105105;22723018;23012332;22492994;22862741;21450369;21489655;22936006;23458258;21898123;23028730;23129775;23271055;23237806;21288907;21367856;21367866;21435449;21439371;21685912;21670401;21320871;21577325;21425343;21666499;21510936;21550980;21555518;21849646;19155101;20847421;23585562;23585566;23715095;20869593;21692989;21062361;21397051;15882073;15904919;16618118;17408955;22615831;22862303;21327254;21753165;21753175;21705366;20473510;21976528;21555603;21568901;21911695;21348938;21558644;21694458;21098973;21942206;21983102;21442128;21931162;20678071;20678073;20678074;20466727;21978388;22002658;21846727;22002427;21181298;21340680;21677375;21807765;21839061;21854751;21910444;21980472;21811019;21841250;21860086;22530600;22659094;22668776;22819391;23041958;23085090;23160422;23338682;23362255;23487739;22648764;21504113;21504133;21825215;21934724;22039833;22159117;22561167;22910909;22952452;21276080;21934536;22233767;21157033;21243369;21638028;21714002;21816655;21822709;21881826;21907761;21949350;22022446;22039514;22057275;22085312;22170881;22177996;22213792;22236337;19695742;19700222;19775775;20301387;20301402;21159074;21344240;21368381;21604267;21763469;21943955;21945393;21966400;22027014;22102449;22104010;22174735;22214313;22221882;22235112;22272245;22291015;22291217;22303461;22304362;22310385;22312444;22366795;22366796;22396417;22401494;22464332;22504418;22504419;20553310;22116524;22403409;21841253;21860087;21969238;22294156;22406198;22461630;22535953;22565157;22269004;22343013;8631898;22637478;22419736;22677170;23576620;22556362;23053136;23340677;23264626;22229117;22802095;22940644;22976542;14993287;22521809;22927204;22975846;22504420;17317006;22984603;21919991;22701727;11698390;16365047;21888627;21985244;22127750;22176350;22359235;22595371;22833681;22965877;23479202;23684085;22595621;23423488;22699846;23789343;23443659;22767602;22193445;22911817;23043292;23269837 4137 B3KTM0;I3L170;I3L2Z2;Q5CZI7 AB073354;ABBA01031191;ABBA01031192;ABBA01031193;ABBA01031194;ABBA01031195;ABBA01031196;ABBA01031197;ABBA01031198;AC004139;AC010792;AC217771;AC217779;AF047863;AF456477;AK055986;AK095802;AK226139;AK299658;AK299704;AMYH01008444;AW161357;AW295014;AY526356;AY730549;BC000558;BC032572;BC040444;BC061892;BC071830;BC094805;BC098281;BC099721;BC101936;BC114504;BC114948;BI552187;BN000503;BT006772;BX544879;CH471233;CR936218;DN996935;DR002467;FJ429137;HI635311;J03778;JA078072;M25298;NG_007398;NM_001123066;NM_001123067;NM_001203251;NM_001203252;NM_005910;NM_016834;NM_016835;NM_016841;X14474 AAA57264;AAA60615;AAC04277;AAC04278;AAC04279;AAH00558;AAH98281;AAH99721;AAI01937;AAI14505;AAI14949;AAP35418;AAS17881;AAU45390;ACJ54951;BAB71065;BAG53132;BAG61575;BAG61605;CAA32636;CAG26750;CBX55119;CCA63951;EAW93565;EAW93566;EAW93567;EAW93568;EAW93569;EAW93570;EAW93571;EAW93572;EAW93573;EAW93574;NP_001116538;NP_001116539;NP_001190180;NP_001190181;NP_005901;NP_058518;NP_058519;NP_058525;P10636 Hs.101174 1648287;1716699;1727285;1734506;1793588;1848771;1849985;1849987;1850453;2116707;2118824;2134720;2149964;2154791;2177685;5024417;5093642 A001X18;A007F48;A009U15;D17S1383E;D17S1451E;D17S2046;G19745;G32838;G63048;PMC23724P1;RH11914;RH121608;RH17756;RH44969;RH47296;STS-H17335;WI-16913 DDPAC;FLJ31424;FTDP-17;MAPTL;MGC138549;MSTD;MTBT1;MTBT2;PPND;TAU G protein beta1/gamma2 subunit-interacting factor 1;OTTHUMP00000239567;OTTHUMP00000239568;OTTHUMP00000239569;OTTHUMP00000239570;OTTHUMP00000239571;PHF-tau;microtubule-associated protein tau;microtubule-associated protein tau, isoform 4;neurofibrillary tangle protein;paired helical filament-tau APPROVED protein-coding ENSG00000186868 6893 01142 157140;168600;172700;260540;600274;601104 REVIEWED 1606267 MARC2 mitochondrial amidoxime reducing component 2 1 1 1 q41 194141035 194176957 + 218988299 219024222 + 220921676 220957599 + 6480464 16973608;16710414;16381901;15489336;15489334;14702039;12477932;11886751;11230166;11076863;11256614;19875103;20379614;20861021;20808825;20877624;21916412;21029045;21803866;21890473 54996 F6V6Z1;Q9NWU0 ABBA01048073;AK000612;AL136931;AL359353;AL606726;AMYH01001743;BC010366;BC011973;BC015829;BC016859;CH471100;EU567145;NM_017898 AAH11973;AAH15829;AAH16859;ACB21048;BAA91287;CAB66865;CAL37897;CAL38507;EAW93292;EAW93293;EAW93294;EAW93295;NP_060368;Q969Z3 Hs.369042 1666800;1718399 RH122974;SHGC-76375 FLJ20605;MOSC2;RP11-270A6.1 MOCO sulphurase C-terminal domain containing 2;MOSC domain-containing protein 2, mitochondrial;OTTHUMP00000035465;moco sulfurase C-terminal domain-containing protein 2;molybdenum cofactor sulfurase C-terminal domain-containing protein 2 APPROVED protein-coding 26064 08628 614127 PROVISIONAL 1604320 MARC1 mitochondrial amidoxime reducing component 1 1 1 1 q41 194179397 194207116 + 219026894 219054353 + 220960039 220987741 + 6480464 16710414;16344560;15489334;14702039;12477932;11886751;8125298;21326311;21493818;19053771;20861021;20877624;21029045;22939629;23086957;16196087;21139048;21890473;21803866;21987572;22118674;20686565 64757 H0YDX4;H7BYZ9;Q9H6C7 ABBA01048073;AK000035;AK026043;AK092439;AK094105;AK225416;AK290812;AL445423;AL606726;AMYH01001743;BC010619;CA439234;CB048738;CH471100;DA878171;NM_022746 AAH10619;BAB15333;BAC04286;BAF83501;EAW93291;NP_073583;Q5VT66 Hs.497816 1763219;1767751;2174306;2174308 A005B27;G20248;SHGC-146951;WI-20349 FLJ22390;MOSC1;RP11-295M18.1 MOCO sulphurase C-terminal domain containing 1;MOSC domain-containing protein 1, mitochondrial;OTTHUMP00000035461;OTTHUMP00000035462;mitochondrial amidoxime reducing component 1;moco sulfurase C-terminal domain-containing protein 1;molybdenum cofactor sulfurase C-terminal domain-containing protein 1 APPROVED protein-coding ENSG00000186205 26189 08653 614126 VALIDATED 1642105 MARCH11 membrane-associated ring finger (C3HC4) 11 MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010] 5 5 5 p15.1 16091141 16203521 - 16120474 16232897 - 16067474 16179897 - 6480464 17604280;12477932;20379614 441061 A6NNE9;H0Y9K6 ABBA01020654;ABBA01020655;ABBA01020656;ABBA01020657;AC016650;AC092335;AMYH01014930;BC150513;BC150514;DB455291;NM_001102562 A6NNE9;AAI50514;AAI50515;NP_001096032 Hs.662216 1700556;1855893;2137474 AFM242yb2;L31477;RH103899 MARCH-XI E3 ubiquitin-protein ligase MARCH11;OTTHUMP00000220741;membrane-associated RING finger protein 11;membrane-associated RING-CH protein XI APPROVED protein-coding ENSG00000183654 33609 613338 PROVISIONAL 1601818 MARCH10 membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010] 17 17 17 q23.2 55166551 55273592 - 58132407 58239437 - 60778675 60885705 - 6480464 17604280;15489334;14702039;12477932;19724895;19851296;20198315;19549727;21658281;21832049 162333 B3KVK0;G3V1Q5;J3KTK3;J3KTN9;J3QKS0;J3QLJ2;J3QRH7;Q8NA82 ABBA01035337;ABBA01035338;ABBA01035339;ABBA01035340;ABBA01035341;ABBA01035342;AC005821;AC068512;AC080038;AK093076;AK097506;AK122947;AMYH01008547;AMYH01008548;AW473122;BC035021;BX648705;CH471109;HC007264;NM_001100875;NM_152598 AAH35021;BAC04044;BAC05079;BAG53812;CBH19437;EAW94337;EAW94338;EAW94339;EAW94340;NP_001094345;NP_689811;Q8NA82 Hs.665663 1336388;1707504;1751441;5097846;7186460 AU048752;D17S794;SHGC-105257;SHGC-84552 FLJ35757;MARCH-X;RNF190 membrane-associated RING finger protein 10;membrane-associated RING-CH protein X;probable E3 ubiquitin-protein ligase MARCH10;ring finger protein 190 APPROVED protein-coding ENSG00000173838 26655 08762 613337 VALIDATED 1346314 MARCH5 membrane-associated ring finger (C3HC4) 5 MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008] 10 10 10 q23.32-q23.33 87795448 87858230 + 94040900 94103701 + 94050920 94113721 + 737633;6480464 12477932 20682791;17606867;16936636;16874301;15489334;15164054;14722266;14702039;19741096;20103533;19549727;20851218;21625535;21139048;21890473;21906983;22308378;18781797;21987572;23253261;22493164;22505724 54708 Q9NX47 AB191202;ABBA01021911;ABBA01021912;ABBA01021913;ABBA01021914;AK000452;AK294799;AK309175;AL158040;AL161652;AMYH01002947;BC015480;BE393612;CH471066;NM_017824 AAH15480;ADZ16088;BAA91173;BAF02285;BAG57919;EAW50094;EAW50095;EAW50096;NP_060294;Q9NX47 Hs.573490 1337342;1655737;1736048;1857277 D10S1173;D10S1319E;D10S2384;WI-11025 FLJ20445;MARCH-V;MITOL;RNF153 E3 ubiquitin-protein ligase MARCH5;OTTHUMP00000020096;membrane-associated RING finger protein 5;membrane-associated RING-CH protein V;mitochondrial ubiquitin ligase;ring finger protein 153 APPROVED protein-coding ENSG00000198060 26025 07909 610637 VALIDATED 1351107 MARCH2 membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010] 19 19 19 p13.2 8334842 8361884 + 8384187 8409901 + 8478187 8503901 + 6480464 17980554;16428329;15689499;15489334;15146197;14722266;12477932;11042152;9110174;8619474;19322201;23166351;17192395;16751776 51257 M0QXU4;M0R0S4;M0R138;M0R1P2;Q9P0N8 AB197929;ABBA01010843;ABBA01010844;ABBA01010845;ABBA01010846;AC136469;AF151074;AK130163;AMYH01009441;AMYH01009442;BC015910;BC032624;BC111388;BI546028;CH471139;CN363445;DQ582066;NM_001005415;NM_001005416;NM_016496 AAF36160;AAH15910;AAH32624;AAI11389;BAD89359;EAW68924;NP_001005415;NP_001005416;NP_057580;Q9P0N8 Hs.631861 1769476;2109495;2131415;5022576 D1S1361;MARCH-_II_9691;RH47612;STS-N27628 HSPC240;MARCH-II;RNF172 E3 ubiquitin-protein ligase MARCH2;RING finger protein 172;membrane-associated RING finger protein 2;membrane-associated RING-CH protein II APPROVED protein-coding ENSG00000099785 28038 14361 613332 VALIDATED 1353584 MARCH4 membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010] 2 2 2 q35 210889243 211003395 - 216830834 216944995 - 217122585 217236750 - 1580863;6480464 15489334;14722266;12477932;10718198;9110174;8619474;20870941;22683712;21151997 57574 Q9P2E8 AB037820;ABBA01062813;AC012513;AC069155;AC098820;AL353945;AMYH01011489;AW051292;BC048793;BC098448;CH471063;NM_020814;U79281 AAH48793;AAH98448;ACE87030;ACE87716;BAA92637;EAW70566;NP_065865;Q9P2E8 Hs.170388 1716801;1778328;1784330;2190107 99-5472;RH121695;SHGC-32061;SHGC-85201 MARCH-IV;MGC104908;RNF174 E3 ubiquitin-protein ligase MARCH4;OTTHUMP00000206781;RING finger protein 174;membrane-associated RING finger protein 4;membrane-associated RING-CH protein IV APPROVED protein-coding ENSG00000144583 29269 16299 608208 VALIDATED 1344254 MARCH3 membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013] 5 5 5 q23.2 122380313 122496109 - 126233448 126394149 - 126203406 126366440 - 1580863;6480464 16428329;15489334;14722266;12477932;9110174;8619474;19549727;21832049;22493164 115123 B9EJE7;Q86UD3 ABBA01068884;ABBA01068885;AC004507;AC005221;AC093532;AC137794;AF055007;AK000103;AK290129;AMYH01015602;AMYH01015603;AMYH01015604;BC047569;BC146948;BC146964;BG719261;CH471086;DB455278;NG_033192;NM_178450 AAH47569;AAI46949;AAI46965;BAF82818;EAW48844;NP_848545;Q86UD3 Hs.132441 1644183;1669535;1681362;1693508;1693556;2118491;2118493;2130192;2130269;2147789;2159887;2162875;2178066 RH12395;RH16315;RH17775;RH47138;RH47554;SGC30895;SGC33891;SGC35038;SHGC-57692;SHGC-58339;SHGC-58434;SHGC-58466;WI-20738 FLJ20096;MARCH-III;MGC48332;RNF173 E3 ubiquitin-protein ligase MARCH3;OTTHUMP00000159217;RING finger protein 173;membrane-associated RING finger protein 3;membrane-associated RING-CH protein III APPROVED protein-coding ENSG00000173926 28728 14362 613333 REVIEWED 1343716 MARCH6 membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 5 5 5 p15.2 10391947 10473622 + 10406828 10488491 + 10353751 10440500 + 737633;1580863;6480464;6907045 12477932 16373356;15673284;15489334;14722266;14702039;11641273;9628581;19651899;16196087;16344560;18798335;19103148;21679772;19322201;21987572;22446040;21139048;21890473;21906983;22505724 10299 D6RHY7;O60337 AB011169;ABBA01020600;ABBA01020601;AC012640;AC092336;AF009301;AF056433;AK000970;AK296585;AK299339;AK300034;AK314686;AL080234;AMYH01014903;AMYH01014904;BC013761;BC039293;BC046148;BC111494;BC136461;BC136462;BC142679;BC142694;BX116291;CH471102;CQ834252;DB072938;NM_001270660;NM_001270661;NM_005885 AAB66840;AAH46148;AAI36462;AAI36463;AAI42680;AAI42695;BAA25523;BAG37238;BAG50840;BAG59204;BAG61341;BAG61845;CAH05341;EAX08065;EAX08066;EAX08067;NP_001257589;NP_001257590;NP_005876;O60337 Hs.432862 1647113;1648744;1648889;1669244;1680707;1689237;1708296;1726805;1761365;1769145;1857636;2114504;2117110;2121351;2129273;2145601;2149394;2153586;2157686;2157688;2172519 A001X45;D5S1598E;D5S1645E;D5S1646E;D5S1654E;D5S438E;G19766;G62792;RH12605;RH27917;RH35927;RH68720;RH92217;SGC35190;SHGC-145385;SHGC-37071;SHGC-79719;WI-11573;WI-17007;WI-22102;WIAF-1507 DOA10;KIAA0597;MARCH-VI;RNF176;TEB4 E3 ubiquitin-protein ligase MARCH6;OTTHUMP00000221092;OTTHUMP00000221093;OTTHUMP00000221094;RING finger protein 176;doa10 homolog;membrane-associated RING finger protein 6;membrane-associated RING-CH finger protein 6;membrane-associated RING-CH protein VI;protein TEB-4 APPROVED protein-coding 30550 11095 613297 REVIEWED 7241967 MARCKSL1P1 MARCKS-like 1 pseudogene 1 100913183 ABBA01063119;AL360001;AMYH01003023;NG_032812 pseudo 45239 INFERRED 7241966 MARCKSL1P2 MARCKS-like 1 pseudogene 2 100913182 ABBA01025809;AL031003;AMYH01016703;NG_032810 pseudo 45240 INFERRED 1347759 MARCKSP1 myristoylated alanine-rich protein kinase C substrate pseudogene 1 21 21 21 q21.3 12783306 12791654 - 27599879 27608227 - 27599879 27608227 - 12140758;11950773;10830953;1427823 4083 ABBA01057218;ABBA01057219;AMYH01012176;AP000230;NG_007487 1681372;2116303;2116305 D9S2085;RH69166;WI-18735 MACSL1 APPROVED pseudo 6760 INFERRED 1351043 MARCH9 membrane-associated ring finger (C3HC4) 9 MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010] 12 12 12 q14.1 57806495 57811284 + 56435167 56439956 + 58148881 58154193 + 737633;1580863;6480464 12477932 17174307;15489334;14722266;14702039;20870941;19913121;20628086 92979 Q86YJ5;Q8N9T1 ABBA01026694;AC025165;AK093897;AK313925;AMYH01004524;AMYH01004525;BC009489;BC036455;BC050397;CH471054;NM_138396 AAH09489;AAH36455;AAH50397;BAC04247;BAG36646;EAW97063;EAW97064;EAW97065;NP_612405;Q86YJ5 Hs.632709 1677544;1696912 RH101924;RH80928 FLJ36578;MARCH-IX;RNF179 E3 ubiquitin-protein ligase MARCH9;OTTHUMP00000243862;RING finger protein 179;membrane-associated RING finger protein 9;membrane-associated RING-CH protein IX APPROVED protein-coding ENSG00000139266 25139 14360 613336 VALIDATED 1603971 MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010] 2 2 2 q24.2 154180871 154236930 + 160277256 160333330 + 160569010 160625084 + 6480464 18410486;17161353;16868077;16713569;15815621;15670816;15489334;14722266;14702039;12477932;8125298;19901269;19549727;21987572;21139048;21906983;18654987;22544753;22493164 64844 B7Z7P5;C9J159;F5H6W4;H7BZU7;Q9H992 ABBA01004867;ABBA01004868;AC009961;AK022973;AK124225;AK222880;AK292836;AK299051;AK302347;AK310238;AK316382;AL050171;AL597638;AL833651;AMYH01011206;BC003404;BC065014;BI462287;CH471058;CR627026;NM_022826 AAH03404;AAH65014;AAY14941;BAB14340;BAD96600;BAF85525;BAH12936;BAH13681;BAH14753;EAX11401;EAX11402;NP_073737;Q9H992 Hs.529272 1734996;1797310;2117281;2125281;2138180;2138182;2154154;2170991 A005L03;A007L02;AXOT_710;D2S1731E;G20298;RH69485;RH70502;RH77955 AXO;AXOT;DKFZp586F1122;MARCH-VII;RNF177 E3 ubiquitin-protein ligase MARCH7;OTTHUMP00000162900;OTTHUMP00000204988;OTTHUMP00000204989;RING finger protein 177;axotrophin;membrane-associated RING finger protein 7;membrane-associated RING-CH protein VII APPROVED protein-coding ENSG00000136536 17393 09817 613334 VALIDATED 5130576 MARK2P1 MAP/microtubule affinity-regulating kinase 2 pseudogene 1 3 3 9831889 9832516 + 9896589 9897216 + 100421501 ABBA01020398;AC018809;AMYH01012964;NG_025672 pseudo 39792 INFERRED 5130473 MARK2P10 MAP/microtubule affinity-regulating kinase 2 pseudogene 10 7 7 7 q21.3 91181425 91182932 + 96321731 96326411 + 96487476 96488983 + 12690205 402679 AACC02000013;ABBA01045760;AC092595;AMYH01017705;CH236949;NG_023195 EAL24124 1334903;1336377;1337384;1724903;1778109;1854845;2165065;2187080;7186174 A004Q32;AFM284ZC1;D7S1796;D7S491;D7S624;RH119216;RH47418;WI-21635 pseudo 39801 INFERRED 5488960 MARK2P11 MAP/microtubule affinity-regulating kinase 2 pseudogene 11 5 157411652 157416992 - 100421484 ABBA01044257;AC008677;AMYH01015748;NG_024636 pseudo 39802 INFERRED 5130572 MARK2P12 MAP/microtubule affinity-regulating kinase 2 pseudogene 12 13 13 54880795 54881331 - 73981926 73982462 - 100421565 ABBA01050347;AL138964;AMYH01005206;NG_024868 pseudo 39803 INFERRED 6770541 MARK2P13 MAP/microtubule affinity-regulating kinase 2 pseudogene 13 7 36148634 36150482 - 100631260 AACC02000036;ABBA01056899;AC078841;AMYH01017181;CH236951;NG_029259 pseudo 39804 INFERRED 7174997 MARK2P14 MAP/microtubule affinity-regulating kinase 2 pseudogene 14 3 11948046 11954903 + 100631261 ABBA01025211;AC090958;AMYH01012980;NG_029270 pseudo 44495 INFERRED 7241608 MARK2P16 MAP/microtubule affinity-regulating kinase 2 pseudogene 16 100533795 ABBA01021943;AL157389;AMYH01002935;NG_028752 pseudo 45171 INFERRED 5130575 MARK2P2 MAP/microtubule affinity-regulating kinase 2 pseudogene 2 3 3 9989521 9990270 + 10054068 10054817 + 100421502 ABBA01020396;AC022007;AMYH01012966;NG_025674 pseudo 39793 INFERRED 5130574 MARK2P3 MAP/microtubule affinity-regulating kinase 2 pseudogene 3 3 3 127484579 127485354 + 129053373 129054148 + 100421507 ABBA01020935;AC137695;AMYH01013476;NG_025740 pseudo 39794 INFERRED 5130579 MARK2P4 MAP/microtubule affinity-regulating kinase 2 pseudogene 4 4 4 174261352 174263848 - 176933179 176935675 - 100421496 ABBA01070409;AC110794;AMYH01014731;NG_025187 1726307 G62454 pseudo 39795 INFERRED 5130580 MARK2P5 MAP/microtubule affinity-regulating kinase 2 pseudogene 5 5 5 15408039 15408668 + 15384340 15384969 + 100421485 ABBA01020649;AC114964;AMYH01014924;NG_024655 pseudo 39796 INFERRED 5130577 MARK2P6 MAP/microtubule affinity-regulating kinase 2 pseudogene 6 3 3 127002720 127004108 - 128570463 128571851 - 100421500 ABBA01020915;AC023598;AMYH01013468;NG_025623 pseudo 39797 INFERRED 1353860 MARCH8 membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010] 10 10 10 q11.21 41950772 42088280 - 45272823 45410360 - 45952817 46090354 - 6480464 19117940;18096478;15489334;15164054;14722266;14702039;12582153;12477932;16385451;19862010;20379614;21151997;21757542;22904187;23300075;23400868;23222517;23606747 220972 H0Y7C6;Q5T0T0 AA418494;ABBA01050027;ABBA01050028;ABBA01050029;ABBA01050030;ABBA01050031;ABBA01050032;AK023636;AK057289;AK307667;AK313340;AL445201;AL512595;AL731567;AL833316;AMYH01002301;AMYH01002302;BC025394;BC066988;BF195460;BG433948;BG717635;BM906478;CH471160;NM_001002265;NM_001002266;NM_145021 AAH25394;AAH66988;BAG36144;EAW86644;EAW86645;EAW86646;EAW86647;EAW86648;EAW86649;EAW86650;EAW86651;EAW86652;NP_001002265;NP_001002266;NP_659458;Q5T0T0 Hs.499489 1657915;1670368;1680847;1684431;1688732;1689464;1698134;1710936;1772232;2184616 A008O14;RH102600;RH66569;RH68855;RH68975;RH70123;RH92176;SGC30405;SHGC-13143;SHGC-84440 MARCH-VIII;MIR;RNF178;c-MIR E3 ubiquitin-protein ligase MARCH8;OTTHUMP00000020830;OTTHUMP00000020832;RING finger protein 178;c-mir, cellular modulator of immune recognition;cellular modulator of immune recognition (c-MIR);membrane-associated RING finger protein 8;membrane-associated RING-CH protein VIII APPROVED protein-coding ENSG00000165406 23356 17466 613335 VALIDATED 5130573 MARK2P7 MAP/microtubule affinity-regulating kinase 2 pseudogene 7 7 7 36171037 36172228 + 36186443 36187634 + 100421531 AACC02000036;ABBA01056899;AC078841;AMYH01017181;CH236951;NG_026553 pseudo 39798 INFERRED 5130578 MARK2P8 MAP/microtubule affinity-regulating kinase 2 pseudogene 8 3 3 126899162 126900488 - 128467022 128468348 - 100421498 ABBA01020911;AC079945;AMYH01013467;NG_025620 pseudo 39799 INFERRED 1349062 MARCO macrophage receptor with collagenous structure The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008] 2 2 q14.2 119416215 119468706 + 119699745 119752236 + 1580863;6480464 10331948;9468508;19240061;16335952;16237101;15489334;12847263;12477932;12444143;12097327;11820786;11315932;10651831;7867067;20810988;19403625;20237496;21299846;21986627;21886847;22470185;22470186;23617307 8685 B4DW79;C9JKT8;Q4ZG40;Q9UEW3 ABBA01045933;ABBA01045934;ABBA01045935;AC013457;AF035819;AF128186;AK297030;AK301407;AK313139;AMYH01010986;BC016004;CB529479;CH471103;NM_006770 AAC08800;AAD41064;AAH16004;AAX88875;ABM83749;ABM83759;ABM87079;BAG35958;BAG59558;BAG62941;EAW95207;NP_006761;Q9UEW3 Hs.67726 1335957;2126344 D2S1251;RH46911 SCARA2 OTTHUMP00000162090;OTTHUMP00000203591;macrophage receptor MARCO;scavenger receptor class A member 2;scavenger receptor class A, member 2 APPROVED protein-coding ENSG00000019169 6895 05337 604870 REVIEWED 5130474 MARK2P9 MAP/microtubule affinity-regulating kinase 2 pseudogene 9 10 10 q23.33 87920822 87921853 - 94178418 94179363 + 14702039 100507674 ABBA01021909;AL161652;AMYH01002947;DB460108;NR_038243 Hs.568772;Hs.742186 1758533 SHGC-148647 FLJ42127 pseudo 39800 VALIDATED 1352052 MARCKSL1 MARCKS-like 1 This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012] 1 1 1 p35.1 31069907 31072301 - 32572027 32574410 - 32799430 32801840 - 6480464;6907045 11256614;17081983;16710414;16429158;16381901;15489336;15489334;15345747;12477932;11230166;11076863;10827182;9598313;9110174;8619474;8132675;1864362;21319273;22751924;22939629;19322201;22772381;21139048;21890473;21906983;17292354;17897642;19246034;19924305 65108 P49006 ABBA01023429;ABBA01023430;AF031640;AI879076;AL109945;AL713653;AMYH01000467;AY007131;AY293577;BC007904;BC066915;CH471059;DT218825;L76376;N70661;NM_023009;NR_052852;X70326 AAH07904;AAH66915;AAP37955;ABM84163;ABM87566;CAA49793;CAD28462;CAL38382;EAX07537;EAX07538;EAX07539;NP_075385;P49006 Hs.75061 1681183;1729173;1745987;2135303;2168953;5491895 Marcksl1;RH125343;RH70887;RH77985;SHGC-11999;WI-8367 F52;MACMARCKS;MLP;MLP1;MRP MARCKS-like protein 1;MARCKS-related protein;OTTHUMP00000008870;mac-MARCKS;macrophage myristoylated alanine-rich C kinase substrate APPROVED protein-coding ENSG00000175130 7142 04247 602940 REVIEWED 732241 MARK1 MAP/microtubule affinity-regulating kinase 1 1 1 q41 218768191 218904422 + 220701568 220837799 + 633320;1580863;6480464 9108484 19090997;14976552;22298430;18492799;17192257;16803889;16710414;16344560;15489334;14702039;14594945;14517247;12477932;12435421;12387894;10819331;10737616;10090741;9832145;9771888;9735171;8999860;8631898;7931292;7706316;18254724;15778465;19615732;20158304;20379614;14676191;16306228;22205951 4139 Q9H051;Q9P0L2 AB040910;ABBA01048073;ABBA01048074;ABBA01048075;ABBA01048076;AC096640;AF154845;AK027493;AK098103;AK295506;AK314614;AL512724;AL592406;AMYH01001743;BC068608;BC113869;BC114478;CA412112;CH471100;DB308514;NM_018650 AAF72103;AAI13870;AAI14479;BAA96001;BAB55152;BAG58425;CAC21661;EAW93298;EAW93299;EAW93300;EAW93301;EAW93302;NP_061120;Q9P0L2 Hs.497806 1656822;1769687;2107315 AL009560;D1S3598;MARK1__7373 KIAA1477;MARK;MGC126512;MGC126513;Par-1c;Par1c OTTHUMP00000035457;OTTHUMP00000035458;PAR1 homolog c;serine/threonine-protein kinase MARK1 protein-coding ENSG00000116141 6896 07353 606511 VALIDATED 735485 MARCKS myristoylated alanine-rich protein kinase C substrate The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008] 6 6 q22.2 114285220 114291345 + 114178527 114184652 + 1580863;6480464 1560845;19475567;19302977;18940893;18329017;18314541;18055557;17456004;17292354;17081983;16941482;16677610;15889447;15623535;15489334;15345747;15239673;15146197;14702039;22773836;14574404;14506265;12577052;12477932;11930178;11825894;11533058;11327693;10734119;9295331;8798548;8566422;8557118;8486722;8420923;8162705;8034575;7588787;2473066;1860846;1427823;1396720;20203291;22304920;22710197;22810585;23377348;19574534;19773446;19924305;20047593;23376641;22863883;22939629;19135240;10359664;18457437;18781797;21139048;21448919;21890473;21906983;21763456;19322201;22779921;22053931;22555845 4082 P29966;Q6NVI1 ABBA01026063;ABBA01026064;AI142997;AK027274;AK074526;AL132660;AMYH01016606;AW163148;BC013004;BC028284;BC039492;BC068059;BC089040;CH471051;CN345330;CS105042;D10522;DQ341274;M68955;M68956;NM_002356 AAA59554;AAA59555;AAH13004;AAH28284;AAH68059;AAH89040;ABC67467;ACE86901;ACE87588;BAA01392;CAI19942;CAJ01280;EAW48258;EAW48259;NP_002347;P29966 Hs.519909;Hs.712658 1681372;1794578;2116303;2116305 D9S2085;PMC321570P10;RH69166;WI-18735 80K-L;FLJ14368;FLJ90045;MACS;PKCSL;PRKCSL OTTHUMP00000017045;myristoylated alanine rich protein kinase c substrate;myristoylated alanine-rich C-kinase substrate;myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L);phosphomyristin;protein kinase C substrate, 80 kDa protein, light chain APPROVED protein-coding ENSG00000155130 6759 07519 177061 REVIEWED 1344457 MARK2 MAP/microtubule affinity-regulating kinase 2 This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 11 11 q13.1 63363471 63433633 + 63606400 63678492 + 6480464;6484113 14976552;15324659;8274451;19530321;19011111;18760999;18315603;18045904;18005242;17234589;17192257;17081983;16980613;16964243;16803889;16707567;16554811;16472737;16344560;16257959;15492257;15489334;15365179;15302935;15158914;14676191;12477932;11433294;10516437;9730619;9108484;8938448;8889548;8125298;7613050;18292230;17353931;14743216;15778465;11257119;15161933;16551573;19553522;19615732;19945424;20194617;21513698;12429843;16775013;20508642;16306228;22238344;19953087;20360068;21139048;21890473;22072711;16396636;16968750;22298430;22883624;22848487;23383273;17442826 2011 A8K2S4;E7ETY4;E9PC69;F5H4F6;F5H4J8;F5H6N2;Q5DNC5;Q7KZI7 AB188493;AB271694;ABBA01003271;ABBA01003272;ABBA01003273;ABBA01003274;ABBA01003275;AF387638;AI524222;AK225766;AK290339;AK307858;AMYH01003697;AP003780;AP006289;AY562187;AY562188;BC008771;BC084540;BM719402;BM724555;BT007342;BX383836;CH471076;DA855402;NG_029771;NM_001039469;NM_001163296;NM_001163297;NM_004954;NM_017490;U73647;X97630;Z25427 AAH08771;AAH84540;AAK82368;AAP36006;AAT67601;AAT67602;ABM81619;ABM84802;BAD37141;BAF83028;BAF96440;CAA66229;CAA80914;EAW74174;EAW74175;EAW74176;EAW74177;EAW74178;EAW74179;EAW74180;NP_001034558;NP_001156768;NP_001156769;NP_004945;NP_059672;Q7KZI7 Hs.567261 1686606;1738221;1773386;2134087;2137629;2163528;5491280 D11S1226;D11S1227;D11S3862;D11S993;MARC_7553-7554:992008491:1;RH47044;STS-R39857 EMK-1;EMK1;MGC99619;PAR-1;Par-1b;Par1b ELKL motif kinase 1;OTTHUMP00000218338;OTTHUMP00000218339;OTTHUMP00000218340;OTTHUMP00000218343;OTTHUMP00000236749;OTTHUMP00000236750;OTTHUMP00000236758;OTTHUMP00000237224;PAR1 homolog;PAR1 homolog b;Ser/Thr protein kinase PAR-1B;serine/threonine protein kinase EMK;serine/threonine-protein kinase MARK2 APPROVED protein-coding ENSG00000072518 3332 02753 600526 REVIEWED 1353944 MARVELD1 MARVEL domain containing 1 10 10 10 q24.2 93210735 93215179 + 99463455 99467899 + 99473465 99477909 + 737633;1580863;6480464 12477932 15489334;15164054;19364627;8889548;21139048;22320884 83742 Q9BSK0 ABBA01021790;AF325259;AI347102;AK025996;AK027093;AL355315;AMYH01002978;AMYH01002979;BC004995;BC062544;CF125014;CH471066;NM_031484 EAW49903;NP_113672;Q9BSK0 Hs.744073 1644943;1653371;1680623;2116714 D10S1320E;RH17810;RH25179;RH64896 FLJ22343;FLJ23440;GB14;MARVD1;MGC4415;MRVLDC1;RP11-548K23.8;bA548K23.8 MARVEL (membrane-associating) domain containing 1;MARVEL domain-containing protein 1;OTTHUMP00000236949;putative MARVEL domain-containing protein 1 protein-coding ENSG00000155254 28674 14364 VALIDATED 1345417 MARVELD2 MARVEL domain containing 2 The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 5 5 q13.2 68746699 68775592 + 68710939 68737890 + 737633;1580863;6480464;7240710 12477932 18084694;17186462;17081983;16365161;15951569;15538632;15489334;14702039;20164257;23073616;20533305;10409428;19535456;19538290;19915590;20033365;21624353;23250572;21868126;21480761;21906983;21890473;19322201;22394074;20301607;22097895 153562 A1BQX2;D6RA09;D6RAH8;Q8N4S9 AB219936;AB219937;ABBA01048273;AC144587;AC145145;AC145146;AK055094;AK292962;AMYH01015146;BC033689;BG943115;CH471137;DQ682656;DQ682657;DQ682658;NG_017201;NM_001038603;NM_001244734 AAH33689;ABG89104;ABG89105;ABG89106;BAB70853;BAE54513;BAE54514;BAF85651;EAW51277;EAW51278;NP_001033692;NP_001231663;Q8N4S9 Hs.657687 1657815;1678697;1691348;1796644;2219948;5022450;5024761;5037552;5093318 A009L22;D10S275;D8S2279;G32648;G41776;MRVLDC2__6159;RAD17_783;RH36905;RH98911 DFNB49;FLJ30532;MARVD2;MRVLDC2;Tric MARVEL (membrane-associating) domain containing 2;MARVEL domain-containing protein 2;OTTHUMP00000222223;OTTHUMP00000222224;OTTHUMP00000222225;OTTHUMP00000222345;tricellulin APPROVED protein-coding ENSG00000152939 26401 11293 610153;610572 REVIEWED 1321076 MARK4 MAP/microtubule affinity-regulating kinase 4 This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 19 19 q13.3 50446682 50500381 + 45754516 45808541 + 633320;1580863;6480464 9108484 15009667;14594945;22156016;14676191;11326310;12735302;18254724;17192257;14702039;12477932;11347906;20634891;16169070;18482256;19019082;19615732;19759416;20460622;14976552;16344560;17924967;19245655;22506312;16959763;16306228;19953087;21906983;23400999;23184942 57787 K7EK17;K7EKG8;K7EN95;Q6IPE9;Q96L34 AB049127;AB058763;AB073663;AB088047;ABBA01040917;ABBA01040918;ABBA01040919;ABBA01040920;AC005581;AC005781;AC006126;AK027619;AK074578;AK075272;AMYH01009850;AY057448;AY120867;BC009049;BC071948;CH471126;CQ784017;DB100014;NM_001199867;NM_031417 AAC33487;AAH09049;AAH71948;AAI66620;AAL23683;AAM55491;BAB39380;BAB47489;BAB55238;BAC03375;BAC11070;BAC11510;BAE45729;CAF86971;EAW57332;EAW57333;EAW57334;EAW57335;EAW57336;NP_001186796;NP_113605;Q96L34 Hs.34314 1663034;1775062;1776843;1849792;2107317;2121974;2147308;2147310;2158867;2178512;5015619;5037552 A005Q13;D11S3114;D19S1005;D19S1105;D19S836;D8S2279;G20412;MARK4__7374;RH45702;RH46237;SGC30757;STS-H97748 FLJ12177;FLJ90097;KIAA1860;MARK4L;MARK4S;MARKL1;MARKL1L;Nbla00650;PAR-1D MAP/microtubule affinity-regulating kinase 4;MAP/microtubule affinity-regulating kinase like 1;MAP/microtubule affinity-regulating kinase-like 1;MARK4 serine/threonine protein kinase;putative protein product of Nbla00650 APPROVED protein-coding ENSG00000007047 13538 09402 606495 REVIEWED 2292062 MAS1LP1 MAS1 oncogene-like pseudogene 1 6 6 6 p22.1 31048846 31049892 - 29551176 29551661 - 29442802 29443848 - 19851445 646366 ABBA01038032;AL645927;AL662869;AMYH01016195;BX000531;BX247947;BX927133;CR388393;CR759768;CR759956;NG_009738 2220056 D6S2770 MAS1LP APPROVED pseudo 33448 INFERRED 1353156 MARK3 MAP/microtubule affinity-regulating kinase 3 The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 q32.3 102921524 103039921 + 103851701 103970168 + 1580863;6480464 16169070;17353931;19079262;17726107;17672918;17192257;16980613;16968750;16344560;15489334;15319445;15182702;14760703;14594945;12941695;12879020;12477932;11433294;9543386;9533022;8816492;18254724;16189514;15778465;20554715;10557092;11333986;11551930;11741534;15161933;15324660;19615732;20214879;20534768;9278512;20508642;20811636;16306228;14676191;20058232;21139048;21890473;20642453;22298430;22504420;23000965;22053931;17979178 4140 A2SY06;H0YIY6;H0YKJ3;H0YKP9;H0YNV4;J3KNR0;P27448;Q86U11 AB209542;ABBA01048425;ABBA01048426;ABBA01048427;ABBA01048428;ABBA01048429;AF170723;AF387637;AF465413;AK124459;AK296643;AK307448;AL133367;AMYH01006046;AMYH01006047;AMYH01006048;BC024773;BX161395;BX248250;CH471061;DA707357;DQ368336;M80359;M83780;NG_030339;NM_001128918;NM_001128919;NM_001128920;NM_001128921;NM_002376;U64205 AAA59991;AAC15093;AAD51631;AAH24773;AAK82367;AAL69982;ABD15137;ABM82641;ABM85818;BAD92779;BAG59243;CAD61882;CAD62578;EAW81812;EAW81813;EAW81814;EAW81815;EAW81816;EAW81817;EAW81818;EAW81819;NP_001122390;NP_001122391;NP_001122392;NP_001122393;NP_002367;P27448 Hs.35828 1645199;1653552;1667711;1693702;1715991;2108239;2117960;2122256;2125410;2134120;2150692;2163919;2182155;2184111;5014063;5022450;5110882 D10S275;D14S1227;D15S1390;G29162;G35351;G35449;G35520;G35569;G35659;G35891;MARK3_8460;RH122738;RH1619;RH69189;RH70198;RH70390;SHGC-58619 CTAK1;KP78;PAR1A;Par-1a C-TAK1;ELKL motif kinase 2;EMK-2;MAP/microtubule affinity-regulating kinase 3;OTTHUMP00000246863;OTTHUMP00000246864;OTTHUMP00000246865;OTTHUMP00000246866;OTTHUMP00000246867;OTTHUMP00000246868;cdc25C-associated protein kinase 1;protein kinase STK10;ser/Thr protein kinase PAR-1;serine/threonine-protein kinase p78 APPROVED protein-coding ENSG00000075413 6897 04058 602678 REVIEWED 1342525 MASP1P1 mannan-binding lectin serine peptidase 1 pseudogene 1 p34 12601245;10475605 246050 AB036334;NG_002640 mannan-binding lectin serine protease 1 pseudogene 1 pseudo 18574 1349073 MARS2 methionyl-tRNA synthetase 2, mitochondrial 2 2 2 q33.1 192325854 192328884 + 198278332 198281359 + 198570028 198573114 + 1580863;6480464;6907045 15274629;15815621;15489334;14702039;12477932;22448145;20877624;21832049;22318606 92935 B4DVV7;Q96GW9 AB107013;ABBA01062490;AC073058;AK098121;AK301252;AMYH01011390;BC009115;BC026361;BC040934;BC126294;CH471063;DC342319;NM_138395 AAH09115;AAH40934;AAI26295;AAX93244;ADR83080;BAC05238;BAC92749;BAG62819;EAW70170;NP_612404;Q96GW9 Hs.744330 1678293;1701184;2107425;2125660 MetRS__7391;RH104220;RH94003;SHGC-52872 MetRS;mtMetRS OTTHUMP00000205806;methionine tRNA ligase 2, mitochondrial;methionine--tRNA ligase 2;methionine--tRNA ligase, mitochondrial;methionine-tRNA ligase;methionine-tRNA synthetase 2, mitochondrial;methionyl-tRNA synthetase 2;methionyl-tRNA synthetase, mitochondrial;mitochondrial methionine--tRNA ligase;mitochondrial methionyl-tRNA synthetase protein-coding ENSG00000247626 25133 14363 609728 VALIDATED 1313280 MARS methionyl-tRNA synthetase This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011] 12 12 q13 56168118 56196700 + 57881736 57910438 + 1580863;6480464;6907045 8921912;17353931;18029348;19064003;15489334;14702039;12729910;12477932;11714285;10913161;10791971;10448063;9878398;8125298;6585969;21145461;10200289;11732605;16344560;19913121;20628086;16055448;16169070;19064571;8052601;8078941;8188258;8449960;9278442;20877624;22863883;22939629;17314511;16196087;20305087;22106287;21252943;21081666;21139048;21890473;21900206;21906983;20473970;21628590;22190034;22505724 4141 A6NC17;B3KVK7;F5H2V6;F8VPL7;F8VS26;F8VZZ9;F8W0M7;F8W0S4;H0YHL6;H0YHV5;H0YI27;H0YI94;H0YIC2;H0YIP0;P56192 ABBA01026699;ABBA01026700;AC022506;AK092986;AK122956;AK222767;AK290857;AK293945;AK303349;AMYH01004518;AMYH01004519;AMYH01004520;AMYH01004521;BC002384;BC006328;BC011639;BC011849;BC015011;BC065187;BT007338;CH471054;D84224;DA489707;HH961788;NM_004990;X94754;Z49216 AAH02384;AAH06328;AAH11639;AAH11849;AAH15011;AAP36002;BAA95668;BAC04011;BAD96487;BAF83546;BAG53819;BAG57322;BAG64411;CAA64381;CAA89153;CBX51367;EAW97019;EAW97020;NP_004981;P56192 Hs.632707 1655432;1769907;1792408;1792876;2183069 D12S1943;PMC150726P8;PMC166200P1;RH17412;RH17902 FLJ35667;METRS;MRS;MTRNS OTTHUMP00000242692;OTTHUMP00000242693;cytosolic methionyl-tRNA synthetase;methionine tRNA ligase 1, cytoplasmic;methionine--tRNA ligase;methionine--tRNA ligase, cytoplasmic;methionyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000166986 6898 08864 156560 REVIEWED 731461 MAS1 MAS1 oncogene This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012] 6 6 q25.3-q26 160247964 160249098 + 160327974 160329108 + 1581849;1581931;1580863;737797;2313799;2316776;5129169;6480464;6907045 15687842;16520407;9565612;18679036;19793108;21040717 3329713;3419518;8661154;19240061;19164480;18636314;16611642;15489334;14574404;12829792;12477932;11967280;10785460;3708691;20674894;2197067;1725048;20592051;20361351;19461648;17207965;22003054;21316680;15123239;23592774;22048948;22164327;22319643;22510001;22518283;22518286 4142 P04201 ABBA01021058;AL035691;AMYH01016805;BC069142;BC069581;BC110454;CH471051;CR542261;M13150;NM_002377 AAA36199;AAH69142;AAH69581;AAI10455;ADQ32918;CAG47057;EAW47609;EAW47610;EAW47611;NP_002368;P04201 Hs.99900 1667719;1676166;1741571;2107321;5492441 GDB:181539;MAS1__7376;RH17660;RH93491;UniSTS:481078 MAS;MGC119966 OTTHUMP00000017535;proto-oncogene Mas APPROVED protein-coding ENSG00000130368 6899 01306 165180 REVIEWED 1351772 MAS1L MAS1 oncogene-like 6 6 6 p21 31060587 31061723 - 29562522 29563658 - 29454543 29455679 - 1580863 1723144;15489334;14574404;12477932;11551509;18636314;19851445;18029348 116511 P35410;Q502V9 ABBA01038032;AL035542;AL645927;AL662869;AMYH01016195;BC069127;BC069345;BC095511;BC101176;BC101177;BX000531;BX247947;BX927133;CH471081;CR388393;CR759768;CR759956;NM_052967;S78653 AAB21255;AAH69127;AAH69345;AAH95511;AAI01177;AAI01178;CAB44503;EAX03197;NP_443199;P35410 Hs.533297 1654535;5493965 RH70224;UniSTS:480553 MAS-L;MGC119987;MRG;dJ994E9.2 MAS-R;MAS1-like;OTTHUMP00000029101;mas-related G protein-coupled MRG;mas-related G-protein coupled receptor MRG protein-coding ENSG00000204687 13961 06251 607235 PROVISIONAL 1347121 MARVELD3 MARVEL domain containing 3 16 16 16 q22.2 55976129 55991929 + 70217571 70233369 + 71660056 71675868 + 1580863;6480464 22895189;16341674;15616553;15489334;15146197;14702039;12477932;20164257;17207965;20028514;21763689;21906983;15342556;23203797 91862 H3BQK1;J3KSM2;Q96A59 AA568498;ABBA01016779;ABBA01016780;AC009097;AI420156;AK056842;AK292185;AK307585;AMYH01007788;BC005052;BC011893;BC013376;BM742281;BP320419;BX109314;BX348391;CH471166;CN277354;CN311659;CR740484;HI574246;HI574248;NM_001017967;NM_001271329;NM_052858 AAH05052;AAH11893;AAH13376;ADQ31751;BAB71294;BAF84874;CBX47612;CBX47613;EAW59227;EAW59228;EAW59229;NP_001017967;NP_001258258;NP_443090;Q96A59 Hs.513706 2107413;5020881;5022450;5037552 D10S275;D8S2279;L17709;MRVLDC3__7189 FLJ32280;MARVD3;MRVLDC3 MARVEL (membrane-associating) domain containing 3;MARVEL domain-containing protein 3;OTTHUMP00000174924;OTTHUMP00000174925 protein-coding ENSG00000140832 30525 14365 614094 VALIDATED 5133133 MAST4-AS1 MAST4 antisense RNA 1 5 5 63295834 63298169 - 66297446 66299781 - 100506600 XR_108604;XR_112739 1789613 KT3 APPROVED miscrna 40865 6481029 MAST4-IT1 MAST4 intronic transcript 1 (non-protein coding) 100874310 AC092349 miscrna 41448 1316095 MAST3 microtubule associated serine/threonine kinase 3 19 19 19 p13.11 18110327 18164218 + 18069603 18123499 + 18208603 18262499 + 1580863;6480464 15951562;16344560;15057824;10737800;9628581;20562859;18650832;12421765 23031 O60307 AB011133;ABBA01051246;ABBA01051247;ABBA01051248;AC005793;AC007192;AC020904;AC093054;AMYH01009584;AMYH01009585;BI907332;BQ340083;DA134568;NM_015016 AAC62830;AAD22670;BAA25487;NP_055831;O60307 Hs.466184 2107327;2184117;5024039 D16S325;MAST3__7380;WI-5938 KIAA0561 microtubule-associated serine/threonine-protein kinase 3 protein-coding ENSG00000099308 19036 612258 VALIDATED 733853 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 3 3 q27-q28 188418632 188492446 - 186933873 187009810 - 1580863;6480464;6907045 21035106;18596036;12421953;10946292;12538697;11532276;17182967;10639434;10925294;11485744;18842294;18676680;18456010;18029348;17938215;17444953;16112196;16102832;12601245;12477932;12370377;11907111;10878362;10679061;10475605;9719152;8921412;8240317;11527969;12771190;22607836;21145461;8018603;7759119;11752456;19170196;19423540;19564340;19607727;19625176;19667088;19692168;20053996;20406964;20438785;21054788;20817870;16712791;19917686;20673767;19939495;21258343;22966085;23455922;21625439;21900206;22536427;22670777;22511776;22691502;23386610;23402018;22854970 5648 C9J1C7;C9JLU5;C9JMA2;F8W876;Q9UF09 AB007617;ABBA01058375;ABBA01058376;AC007920;AF284421;AI278088;AI828640;AK129893;AK291157;AK291686;AK300663;AK304334;AL134380;AL137646;AL708781;AMYH01013742;AMYH01013743;AV686235;BC039724;BC106945;BC106946;BX641029;BX647237;CB162101;CH471052;CR749615;D61695;DC423174;NG_029440;NM_001031849;NM_001879;NM_139125;NR_033519 AAH39724;AAI06946;AAI06947;AAK84071;BAA34864;BAA89206;BAF83846;BAF84375;BAG62349;BAG65179;CAB70856;CAE46018;CAH18409;CAI46037;EAW78150;EAW78151;EAW78152;EAW78153;NP_001027019;NP_001870;NP_624302;P48740 Hs.89983 1655276;1656252;1665544;1681638;1682844;1709508;1739309;1739823;1760839;1768403;1774243;1775705;1797852;2151392;2156961;2165778;2185530;5024761 D3S3302E;D3S3315;D3S3485E;G15960;MASP1_923.2;RH12357;RH12435;RH16233;RH36905;RH75422;RH93986;SHGC-144506;SHGC-34843;SHGC-77643;SHGC-81815;STS-D17525;WI-16893;WI-9292 3MC1;CRARF;CRARF1;DKFZp686I01199;FLJ26383;MAP1;MASP;MASP3;MAp44;MGC126283;MGC126284;PRSS5;RaRF OTTHUMP00000209926;OTTHUMP00000209927;OTTHUMP00000209928;OTTHUMP00000209929;OTTHUMP00000209930;Ra-reactive factor serine protease p100;complement factor MASP-3;complement-activating component of Ra-reactive factor;mannan-binding lectin serine protease 1;mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor);mannose-binding lectin-associated serine protease 1;mannose-binding protein associated serine protease-1;mannose-binding protein-associated serine protease;serine protease 5 APPROVED protein-coding ENSG00000127241 6901 02749 257920;600521 REVIEWED 1606320 MASP2 mannan-binding lectin serine peptidase 2 The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in two transcript variants encoding two RARF components that are involved in the mannan-binding lectin pathway of complement activation. The longer isoform is cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. [provided by RefSeq, Jul 2008] 1 1 p36.3-p36.2 11009167 11029872 - 11086580 11107296 - 6480464;6907045;7240710 12421953;10946292;12538697;9087411;11532276;17182967;10639434;10925294;19405982;19344414;19275590;19234189;19050632;18849076;18842294;18638656;18596574;18582923;18400978;18295674;18221301;18177377;17984804;17971300;17709141;17614162;17565323;17303612;17252003;17096357;17045845;16710414;16395704;16112196;16040602;16029433;22380611;15746044;15364579;15117939;12904520;12477932;11907111;11426320;10878362;10679061;10393416;10330290;10092804;9777418;8018603;22511776;22691502;20817870;19913121;20593422;20628086;19307021;19423540;19737459;19775369;19817957;19948975;20002787;20042521;20150204;20406964;20438785;21198752;16344560;21203938;22966085;21489885;22071314;22173059;21843573;21926545;21871896;21974696;22236007;20467438;23142462;23402018 10747 Q9H498 AB008047;AB033742;ABBA01003032;ABBA01003033;ABBA01003034;ABBA01003035;ABBA01003036;AF321558;AF321562;AJ297949;AJ300188;AK290823;AL109811;AMYH01000251;BC052299;BC067359;BC080556;CH471130;CS250107;CS250110;CS251161;CS251164;DA638135;JA630821;JA630824;JA638685;JA638688;JA638750;JA638753;JA638815;JA638818;JA672720;JA672723;NG_007289;NM_006610;NM_139208;X98400;Y09926;Y18281;Y18282;Y18283;Y18284;Y18286;Y18287 AAG50274;AAG50275;AAI56087;AAI56887;BAA78616;BAA85658;BAA85659;BAF83512;CAA67050;CAA71059;CAB50728;CAB50729;CAB50730;CAB50731;CAB50732;CAB50733;CAB50734;CAB50735;CAC15568;CAC17138;CAC17139;CAJ58371;CAJ58372;CAJ58410;CAJ58411;CCE53520;CCE53521;CCE67082;CCE67083;CCE67087;CCE67088;CCE67092;CCE67093;CCF12073;CCF12074;EAW71674;NP_006601;NP_631947;O00187 Hs.655645 1660840 SHGC-34104 MAP19;MASP-2;MASP1P1;sMAP MBL-associated plasma protein of 19 kD;MBL-associated serine protease 2;OTTHUMP00000002174;OTTHUMP00000002175;mannan-binding lectin serine peptidase 1 pseudogene 1;mannan-binding lectin serine protease 1 pseudogene 1;mannan-binding lectin serine protease 2;mannose-binding protein-associated serine protease 2;small MBL-associated protein APPROVED protein-coding ENSG00000009724 6902 05484 605102;613791 REVIEWED 1354102 MAST1 microtubule associated serine/threonine kinase 1 19 19 19 p13.2 12838964 12875474 + 12810348 12846765 + 12949259 12985766 + 1580863;6480464 17081983;16344560;15489334;15057824;12614677;12477932;11441184;10404183;10231032;8889548;15951562;20029029;21163940;21139048;22101766 22983 K7EJI7;K7EJZ9;K7EME4;Q9Y2H9 AB023190;ABBA01029764;ABBA01029765;ABBA01029766;ABBA01029767;ABBA01029768;ABBA01029769;AC020934;AD000092;AK297553;AMYH01009497;BC017485;BC026709;BC027985;BM681304;CH471106;DA769770;NM_014975 AAB51171;AAH27985;BAA76817;BAG59946;EAW84317;EAW84318;EAW84319;NP_055790;Q9Y2H9 Hs.227489 1335390;1705984;2148977 D2S2287;RH65998;SHGC-78625 KIAA0973;SAST;SAST170 microtubule-associated serine/threonine-protein kinase 1;syntrophin associated serine/threonine kinase;syntrophin-associated serine/threonine-protein kinase protein-coding ENSG00000105613 19034 17469 612256 VALIDATED 1601915 MAST4 microtubule associated serine/threonine kinase family member 4 5 5 5 q12.3 62890649 63463832 + 65927932 66498848 + 65892176 66465423 + 6480464 17086981;16344560;14702039;12477932;9205841;20009918;20379614;22360420;15231748;22949513 375449 B5MC73;C9J249;C9JKM7;D6RAK1;E7EWQ5;E7EX28;F8WAQ9;F8WBH1;H7C0U3;H7C146;H7C1I9;H7C2A9;H7C2V7;H7C3S4;J3QT34;O15021 AB002301;ABBA01048309;ABBA01048310;ABBA01048311;ABBA01048312;ABBA01048313;ABBA01048314;ABBA01048315;ABBA01048316;AC008872;AC008920;AC016634;AC034208;AC044799;AC092349;AC092373;AC113365;AK057601;AK131421;AK296707;AK299538;AK299706;AK309559;AMYH01015136;AMYH01015137;AMYH01015138;AMYH01015139;AY439222;AY830839;BC003646;BC018692;BC033215;BM967134;BX648796;BX648980;CH471137;DA452178;NM_001164664;NM_015183;NM_198828 AAH33215;AAR13901;AAW52510;BAA20762;BAB71532;BAG59300;BAG61485;BAG61607;EAW51319;EAW51320;EAW51321;NP_001158136;NP_055998;NP_942123;O15021 Hs.595458 1335487;1339001;1339907;1643754;1655840;1677440;1691300;1693576;1695478;1695722;1710392;1714455;1718701;1720423;1727017;1752235;1755809;1760487;1779314;1780968;1789613;1789615;1789617;1789619;1789621;1789623;1789625;2113786;2121392;2155447;2170259;2175170;2180293;2182144;5024761;5095014;7187015 AB056382;AFMA296ZE5;D5S2072;D5S2089;D5S2697;D5S647;G59014;G62906;KT3;KT4T3;KT4T7;KT5T3;KT5T7;KTB12L;KTB12R;L28229;L28398;L31437;LOC375449;RH119738;RH123041;RH36905;RH47992;RH65868;RH80944;RH99012;SHGC-106144;SHGC-13353;SHGC-142653;SHGC-143417;SHGC-153316;SHGC-58481;SHGC-68613;SHGC-82470;SHGC-82627;bac55085T DKFZp686E18148;DKFZp686N1467;FLJ16540;FLJ33039;KIAA0303 OTTHUMP00000201718;OTTHUMP00000201719;OTTHUMP00000201720;OTTHUMP00000201722;OTTHUMP00000201724;OTTHUMP00000201725;microtubule-associated serine/threonine-protein kinase 4;similar to microtubule associated testis specific serine/threonine protein kinase protein-coding ENSG00000069020 19037 14195 VALIDATED 1312089 MAST2 microtubule associated serine/threonine kinase 2 1 1 p34.1 46041872 46274383 + 46269285 46501796 + 6480464 10646847;12117771;17081983;16710414;15489334;15308666;15146197;14764729;14760703;14702039;12477932;12421765;11099500;10404183;9872452;8902215;8889548;8246979;17353931;22609064;15951562;16159897;19635844;19961423;21832049;17979178;21988832;22939624;23504457;18029348;21900206;22101766;22195963 23139 E7ERL6;Q6P0Q8 AB018350;AB047005;ABBA01050847;ABBA01050848;ABBA01050849;ABBA01050850;ABBA01050851;ABBA01050852;ABBA01050853;AK027123;AK055291;AK096519;AK309510;AL137594;AL358075;AL540100;AL603882;AL603888;AL645480;AL772251;AL833919;AMYH01000579;AMYH01000580;AMYH01000581;BC006166;BC015816;BC065499;BM675011;CH471059;CN297081;NM_015112 AAH06166;AAH15816;AAH65499;BAA34527;BAB40778;BAG51495;BAG53313;CAB70833;CAD38775;EAX06948;EAX06949;NP_055927;Q6P0Q8 Hs.319481 1648455;1656873;1763847;1776343;1854376;2107325;2128931;2138698;2159307;2163562;5110710 AL009603;MAST2__7379;RH47223;RH65021;RH67834;SHGC-147513;SHGC-30506;SHGC-32364;SHGC-74768;SHGC-74779;WI-21964 FLJ39200;KIAA0807;MAST205;MTSSK;RP4-533D7.1 OTTHUMP00000009697;OTTHUMP00000009698;microtubule associated testis specific serine/threonine protein kinase;microtubule-associated serine/threonine-protein kinase 2 protein-coding ENSG00000086015 19035 11294 612257 VALIDATED 6768883 MATN1-AS1 MATN1 antisense RNA 1 1 p35.2 31191619 31199593 + 14702039 100129196 ABBA01023498;AK057725;AK128076;AL137857;AMYH01000448;BC044253;CH471059;NG_027941;NR_034182 BAB71552;EAX07645 Hs.659751 1732962;1740597 D1S112;D1S1348 APPROVED miscrna ENSG00000186056 40364 VALIDATED 732753 MAT1A methionine adenosyltransferase I, alpha This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008] 10 10 q22 82021556 82039414 - 82031576 82049434 - 1580863;1300048;1359039;1599915;6480464;6907045;7242932;7240710;7242425 9202427;9042912;2292587;23073625 7271238;22951388;8314764;1772450;19161160;19048631;16341674;15935930;15489334;15164054;12477932;10677294;9482646;9175157;8770875;8393662;7560086;7213623;3812486;1683972;1056281;16385451;20146079;20201926;20335551;20675163;19913121;20628086;20634891;22807109;22939629;18500573;21813468;21890473;23000965;21678410;21906983;21185701;22270009;22318685;23425511;23241961 4143 B1ANE6;Q00266 ABBA01003804;AK026931;AK290820;AL359195;AMYH01002882;BC018359;BM738684;BX496326;CH471142;D49357;NG_008083;NM_000429;X69078 AAH18359;ABM81999;ABM85182;BAA08355;BAF83509;CAA48822;EAW80396;EAW80397;NP_000420;Q00266 Hs.282670 1668158;1755131;2108241;2148726;5018021 G15884;MAT1A;MAT1A_8461;RH1570;SHGC-142059 MAT;MATA1;SAMS;SAMS1 MAT 1;MAT-I/III;OTTHUMP00000019971;S-adenosylmethionine synthase isoform type-1;S-adenosylmethionine synthetase isoform type-1;adoMet synthase 1;adoMet synthetase 1;methionine adenosyltransferase 1;methionine adenosyltransferase I/III APPROVED protein-coding ENSG00000151224 6903 02013 250850;610550 REVIEWED 1319386 MASTL microtubule associated serine/threonine kinase-like This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010] 10 10 10 p12.1 27160210 27192290 + 27484298 27515854 + 27443753 27475848 + 1580863;1598951;6480464;7240710 12890928 16964243;16344560;15489334;15164054;14702039;12477932;10891439;10521306;8125298;21444715;20818157;16385451;21963094;23000965;20360068;22102272;19471022;21139048;21693764;21890473;21906983 84930 Q96GX5 ABBA01034399;ABBA01034400;ABBA01034401;ABBA01034402;AK027719;AK074804;AK123004;AK225319;AL160291;AMYH01002204;AW408392;AW675108;BC009107;BC013704;BU430288;CH471072;DA524606;DB150802;NG_016987;NM_001172303;NM_001172304;NM_032844 AAH09107;BAB55321;BAC11218;EAW86064;EAW86065;EAW86066;EAW86067;NP_001165774;NP_001165775;NP_116233;Q96GX5 Hs.276905 1336798;1339766;1658123;2219918;5017865;7187443 D10S1639;D10S586;D10S588;MASTL;MASTL__6289;RH45019 FLJ14813;GREATWALL;GW;GWL;MAST-L;RP11-85G18.2;THC2;hGWL OTTHUMP00000019368;OTTHUMP00000019369;OTTHUMP00000019370;greatwall protein kinase;microtubule-associated serine/threonine-protein kinase-like;serine/threonine-protein kinase greatwall APPROVED protein-coding ENSG00000120539 19042 10499 188000;608221 REVIEWED 1606800 MAT2B methionine adenosyltransferase II, beta The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 5 5 q34-q35 162862809 162878906 + 162930231 162946328 + 6480464;6907045;7242425 23073625 11230166;22773346;10644686;11256614;19048631;19027726;18753136;18698677;18045590;18041713;16381901;15489336;14702039;12975309;12878157;12671891;12477932;11337507;11076863;9055605;7213623;20421296;19913121;20628086;20634891;19683694;20877624;21832049;22863883;22939629;18781797;21139048;21890473;21906983;21813468;21829377;19322201;23000965;23425511;16344560;22505724 27430 E5RFS9;E5RJR3;H7C0X7;Q9H3E1 AB073390;ABBA01044183;AC112205;AF113225;AF182814;AJ243721;AK096178;AK291919;AK294069;AK312365;AL136664;AMYH01015770;AU279489;AW966728;AY033822;AY358695;BC005218;BC066645;BC093030;CH471062;DA146198;DQ395260;DQ413182;DQ413183;HY091756;HY366761;NM_013283;NM_182796 AAF28477;AAG39296;AAH05218;AAH66645;AAH93030;AAQ89058;ABD59011;ABD85290;BAE45720;BAF84608;BAG35283;BAH11664;CAB56837;CAB66599;CAL37975;CAL38612;EAW61517;EAW61518;EAW61519;EAW61520;NP_037415;NP_877725;Q9NZL9 Hs.54642 1660021;1685912;1740177;2131615;5020948 D5S1942;G35510;RH93678;SHGC-56899;STS-D25599 MAT-II;MATIIbeta;MGC12237;Nbla02999;SDR23E1;TGR MAT II beta;OTTHUMP00000160916;OTTHUMP00000160917;OTTHUMP00000224275;OTTHUMP00000224294;beta regulatory subunit of methionine adenosyltransferase;dTDP-4-keto-6-deoxy-D-glucose 4-reductase;methionine adenosyltransferase 2 subunit beta;putative dTDP-4-keto-6-deoxy-D-glucose 4-reductase;putative protein product of Nbla02999;short chain dehydrogenase/reductase family 23E, member 1 APPROVED protein-coding ENSG00000038274 6905 05701 605527 REVIEWED 737506 MAT2A methionine adenosyltransferase II, alpha The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011] 2 2 p11.2 85619799 85625914 + 85766101 85772403 + 1580863;1300048;1359040;6480464;6907045;7242425 11099469;23073625 21362551;1426236;7665609;19161160;19048631;19048023;18423013;18041713;17631143;16413417;15815621;15489334;14530285;12671891;12660248;12477932;9703951;7213623;19019082;19913121;20615890;20628086;20634891;21247894;19683694;22863883;22939629;23184937;21406062;21460102;18781797;21139048;21890473;21906983;21987572;19322201;21963094;22879628;23000965;23349634;21145461;22318685;23425511;22505724;22952844 4144 B4DN45;P31153 ABBA01075756;ABBA01075757;AC016753;AK291126;AK293841;AK297758;AK297797;AK303877;AK308591;AK308758;AK309338;AK316411;AMYH01010496;BC001686;BC001854;BI549760;CH471053;DC322518;DQ083239;NG_029183;NM_005911;X68836 AAH01686;AAH01854;AAY24339;AAY85355;ADZ15336;BAF83815;BAG57239;BAG60107;BAG60136;BAG64814;BAH14782;CAA48726;EAW99511;EAW99512;EAW99513;EAW99514;NP_005902;P31153 Hs.516157 1809410;2075838;2075840;2183618 D3S3930;ECD05697;REN109121;REN109122 MATA2;MATII;SAMS2 MAT 2;MAT-II;OTTHUMP00000160677;OTTHUMP00000204973;S-adenosylmethionine synthase isoform type-2;S-adenosylmethionine synthetase isoform type-2;adoMet synthase 2;adoMet synthetase 2;methionine adenosyltransferase 2 APPROVED protein-coding ENSG00000168906 6904 03275 601468 REVIEWED 1352772 MATN1 matrilin 1, cartilage matrix protein This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008] 1 1 p35 30958583 30969474 - 31184124 31196432 - 1580863;6480464 22193623;9083061;2246248;18985072;17176459;16710414;16303743;15552564;12175111;11896063;11882030;10196235;7989046;12477932;15075323;18951430;19834535;20092731;20729554;20739701;20137399;20137728;21308753;22278929 4146 P21941;Q8WVV1 ABBA01023498;ABBA01023499;AK075519;AK312949;AL137857;AMYH01000448;BC131710;CH471059;M55675;M55682;M55683;NG_027941;NM_002379 AAA63904;AAB38702;AAI31711;AAI60064;BAG35790;BAG52161;EAX07642;EAX07643;NP_002370;P21941 Hs.150366 1732962;1740597;1742465;1742847;1797854;1856031;2115898;5094858 D1S112;D1S1348;GDB:197115;GDB:210803;MATN1;MATN1_2620;SGC35368;STS-M55683 CMP;CRTM OTTHUMP00000003805;cartilage matrix protein;matrilin-1 APPROVED protein-coding ENSG00000162510 6907 00276 115437 REVIEWED 1350110 MATR1 matrin F/G 1 4024 6911 69108 MATK megakaryocyte-associated tyrosine kinase The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 3728967 3752810 - 3777967 3801810 - 1580863;6480464 8999872;8288563;7530249;18029348;18292939;17934522;17492661;16707123;16574955;16344560;16189514;16168623;15890649;15748901;15489334;15329911;15302935;15057824;14702039;12782282;12477932;12429987;12122014;12063569;10329710;10080957;9255603;9171348;9038210;8134117;8125298;7936664;7536744;7516063;1722201;21697133;21078624;21799000;21890473;22623531;16273093;21963094;22939624;23251661 4145 F1T0G6;K7EKC4;K7EKS5;K7ENL8;K7EPP2;K7EQV3;K7EQY5;K7ERY4;K7ES68;P42679 AB593100;ABBA01002843;ABBA01002844;ABBA01002845;ABBA01002846;ABBA01002847;AC005777;AK055395;AK225834;AK315646;AL137754;AMYH01009317;AMYH01009318;BC000114;BC003109;BG396388;BM925586;BQ109562;CH471139;DA592994;L18974;NM_002378;NM_139354;NM_139355;S71669;S75164;S75168;X77278 AAA16703;AAB30995;AAC60645;AAC62843;AAH00114;AAH03109;BAG38013;BAG51511;BAJ84040;CAA54493;CAB70906;EAW69284;EAW69285;EAW69286;EAW69287;NP_002369;NP_647611;NP_647612;P42679 Hs.631845 1789362;1789364;1789366;2219170 G67865;G67866;G67868;MATK_2943 CHK;CTK;DKFZp434N1212;HHYLTK;HYL;HYLTK;Lsk;MGC1708;MGC2101 CSK homologous kinase;Csk-homologous kinase;Csk-type protein tyrosine kinase;HYL tyrosine kinase;hematopoietic consensus tyrosine-lacking kinase;hydroxyaryl-protein kinase;leukocyte carboxyl-terminal src kinase related;megakaryocyte-associated tyrosine-protein kinase;protein kinase HYL;tyrosine kinase MATK;tyrosine-protein kinase CTK;tyrosylprotein kinase APPROVED protein-coding ENSG00000007264 6906 02496 600038 REVIEWED 1312907 MATN3 matrilin 3 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] 2 2 p24-p23 20055294 20075936 - 20191813 20212455 - 1599920;1599919;1580863;6480464;7240710 11479597;15121775 17517694;15459972;9350998;18205203;17881354;17311924;16769693;16641049;16344560;16287128;16199550;15694129;15523498;20077500;14994237;14729835;12736871;11896063;9847074;9799608;9287130;10486325;15075323;18759284;19840795;20201926;20237151;21922596;12477932;21965141;20301302;22270056;22973175 4148 B2CPU0;O15232 AA461483;ABBA01018484;ABBA01018485;AC079145;AJ001047;AJ224741;AK290856;AMYH01010148;AU121718;BC139907;CA447528;CH471053;EU541440;NG_008087;NM_002381;Y13341 AAI39908;AAX88937;ACB29772;BAF83545;CAA04501;CAA12110;CAA73785;EAX00837;NP_002372;O15232 Hs.656199 1298132;1334924;1697990;1791282;1847256;2109497;2163866;7185342 D2S1399;D2S1789;D2S2264;D2S373;MARC_9961-9962:996688712:1;MATN3_8462;RH102524;WIAF-2090 DIPOA;EDM5;HOA;OADIP;OS2 OTTHUMP00000200547;matrilin-3 APPROVED protein-coding ENSG00000132031 6909 03661 140600;602109;607078;608728 REVIEWED 1320229 MATN4 matrilin 4 This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 20 20 20 q13.1-q13.2 40630630 40645500 - 43355501 43367645 - 43922087 43936967 - 1580863;6480464 9027493;9827539;18005044;16303743;14702039;12477932;11896063;11780052;11279097;15075323;20171186;10367731;10830110;11549321;16344560;17267810;19404940;19531486;21496664;22876117 8785 A2RRP8;A5D8U1;A6NNA4;Q9H1F8 ABBA01052660;AJ007581;AK027323;AK074495;AK074593;AK074595;AK074597;AL021578;AMYH01011937;AW134923;BC131763;BC141811;BC143625;BC151219;CH471077;DA970379;NM_003833;NM_030590;NM_030592 AAI31764;AAI41812;AAI51220;BAC11081;BAC11083;BAG51302;BAG51974;CAA07569;EAW75866;EAW75867;EAW75868;NP_003824;NP_085080;NP_085095;O95460 Hs.278489 FLJ14417;HE6WCR54 OTTHUMP00000031671;OTTHUMP00000031672;OTTHUMP00000031673;matrilin-4 APPROVED protein-coding ENSG00000124159 6910 04873 603897 REVIEWED 1313328 MATN2 matrilin 2 This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 q22 98950487 99118124 + 98881311 99048948 + 1580863;6480464 12477932;11124542;18386166;18328806;16713569;16401863;16303743;15489334;14702039;12975309;12164922;11896063;11852232;9083061;12180907;19730683;19834535;19913121;20628086;21078624 4147 E5RJM4;H0YBD5;H0YBF2;H0YBJ4;H0YBM3;H0YBN2;H0YBU5;H0YBV5;J3KN08;Q8N2G3;Q96FT5 ABBA01037527;ABBA01037528;ABBA01037529;AI434413;AK027775;AK075489;AK289721;AL137638;AL833931;AMYH01018915;AP002906;AP003352;AY358895;BC010444;BC016394;BX649093;CB988661;CH471060;NM_002380;NM_030583;U69263 AAC51260;AAH10444;AAH16394;AAQ89254;BAB55358;BAC11648;BAF82410;CAB70853;CAD38787;EAW91764;EAW91765;EAW91766;EAW91767;EAW91768;NP_002371;NP_085072;O00339 Hs.189445 1655233;1655235;1661339;1670596;1721025;1727447;1763617;2107329;2120233;2186081;5491405 A006G02;D8S2004;G20777;G59494;G62981;HSCZPH042;MARC_10159-10160:996678914:1;MATN2__7381;RH66182;SHGC-147305;SHGC-36779 OTTHUMP00000227538;OTTHUMP00000227539;OTTHUMP00000227540;OTTHUMP00000227541;OTTHUMP00000227542;matrilin-2 APPROVED protein-coding ENSG00000132561 6908 03660 602108 REVIEWED 1606258 MAVS mitochondrial antiviral signaling protein This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 20 20 p13 3775484 3795973 + 3827446 3856770 + 6480464;6907045 18984593;16177806;12761501;19193783;19028691;22105485;18977754;18927075;18756281;18692023;18550535;18307765;18207245;17911629;17093192;16984921;16964243;16858409;16731946;16707574;16585524;16344560;16341674;16301520;16239922;16153868;16127453;16125763;15489334;14702039;12477932;11780052;10574462;20538852;20661427;20711230;20962078;21068253;19351494;19380491;19546225;19591957;19609254;19631370;19644511;19690333;19701189;19881509;19902255;19914245;20032188;20044805;20127681;20154210;20159242;20554965;16914100;11002417;20699220;20877624;21130742;22901541;18818105;21187438;21285412;21268286;21170385;19996094;20097753;21421666;23028806;21200404;22870331;22792062;21625535;21813773;21782231;19454348;20071582;20483786;21127988;21203974;19893624;20161788;20406818;21292167;21865020;21903422;21957149;22022264;23460740;20080758;22114345;22131337;22383950;21139048;19734229;22341464;22427742;20434986;20628368;23399697;22626058;22588174;22674996;22908223;22939629;23087404;23308256;19419966;22079989;22623778;23582325;23028469 57506 B2BD34;M1P2Z0;Q9H4Y1 AB033097;AB097003;AB232371;ABBA01053835;ABBA01053836;ABBA01053837;ABBA01053838;AK023799;AK056260;AK092705;AK095370;AK123956;AK130992;AK291785;AK296897;AL109804;AL353194;AL390136;AL833736;AMYH01011679;BC000073;BC028962;BC040719;BC040930;BC044952;BC052583;BC062310;BC063593;BM834250;BX649084;CH471133;CQ871280;DB219666;DQ167126;DQ174270;DQ181928;EF467323;EF467324;KC415005;NG_030028;NM_001206491;NM_020746;NR_037921 AAH44952;AAZ80417;ABA19229;ABA54890;ABR24161;ABR24162;ACE86983;ACE87672;AGF94754;BAA86585;BAB14684;BAC77356;BAC85473;BAC85734;BAE79738;BAF84474;BAG59455;CAH56821;EAX10481;EAX10482;NP_001193420;NP_065797;Q7Z434 Hs.570362 1734194;2148256;5014063;5015619;5015869;5015879;5016478;5016596;5016851;5018937;5022463;5022578;5022651;5024756;5037552;5109281;5117897;5118444;5120375;5120437 D11S2921;D11S3114;D11S3316;D15S1390;D1S1423;D1S1425;D20S517E;D3S1673;D8S2279;GDB:313261;GDB:313317;GDB:314949;GDB:315881;GDB:434012;GDB:631802;GDB:631813;RH80030;RH80031;RH80438;WI-17681 CARDIF;DKFZp547C224;DKFZp666M015;FLJ27482;FLJ31698;FLJ35386;FLJ38051;FLJ41962;IPS-1;IPS1;KIAA1271;MGC3260;VISA CARD adapter inducing interferon beta;CARD adapter inducing interferon-beta;CARD adaptor inducing IFN-beta;IFN-B promoter stimulator 1;OTTHUMP00000030141;interferon beta promoter stimulator protein 1;interferon-beta promoter stimulator protein 1;mitochondrial anti-viral signaling protein;mitochondrial antiviral-signaling protein;putative NF-kappa-B-activating protein 031N;virus-induced signaling adapter variant 1b;virus-induced signaling adaptor;virus-induced signaling adaptor variant 1a;virus-induced-signaling adapter APPROVED protein-coding 29233 13847 609676 REVIEWED 731306 MAX MYC associated factor X The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 14 14 q23 64542645 64638980 - 65472819 65569413 - 6480464;6907045;7240710 16352593;17157259;17274640;17418410;2006410;8425218;19260139;19086036;17217336;17082780;17081983;16475822;16201965;16189514;15809730;15592455;15489334;15302589;15258910;15121849;14759258;12584560;12553908;12551947;12477932;12391307;12004135;11602341;11535131;11031250;10611234;10593926;10229200;9680483;9199327;9184233;9115440;8861962;8521822;8479534;8426752;8247525;7479834;1594250;1566084;1557420;1323849;11208609;10918583;9528857;17353931;10319872;9708738;11283613;11509179;22086303;22733550;21873430;10597290;15960975;17072308;17468742;18029348;19862010;20214878;16596619;16705173;16878156;19578763;16140957;20936779;12821782;12824180;16126174;16287840;20382893;18003922;21685915;15467743;15548375;15572685;18271930;14749374;17289033;8224841;22696478;9050988;17471507;17643117;17700062;20946988;22939629;23816886;15358760;17314511;21670079;15674325;10465786;20195357;21150319;21988832;22939624;9886493;20301715;22325352;16908182;17315254;17705400;17876039;17938259;19114306;21653943;21815647;21859806;22384171;23222517;23251661;22452945 4149 G3V2N4;G3V2R5;G3V302;G3V563;G3V570;G3V5L1;Q6V3B1;Q8TAX8;Q96CY8 ABBA01018375;ABBA01018376;ABBA01018377;ABBA01018378;AI652319;AI655674;AI769390;AI917842;AI954328;AK290130;AK290929;AK292189;AK292630;AK303412;AL139022;AL833643;AMYH01005802;AMYH01005803;AY353088;BC003525;BC004516;BC013669;BC025685;BC027924;BC036092;BF038005;BF062526;BG177865;CH471061;CR542191;DB451269;DB482510;HY018878;M64240;NG_029830;NM_001271068;NM_001271069;NM_002382;NM_145112;NM_145113;NM_145114;NM_197957;NR_073137;NR_073138;X60287;X66867 AAA36200;AAA36201;AAH03525;AAH04516;AAH13669;AAH25685;AAH27924;AAH36092;AAQ57210;ADZ15775;BAF82819;BAF83618;BAF84878;BAF85319;BAG64465;CAA42827;CAA47337;CAA47338;CAA47339;CAG46988;EAW80898;EAW80899;EAW80900;EAW80901;EAW80902;EAW80903;EAW80904;EAW80905;EAW80906;NP_001257997;NP_001257998;NP_002373;NP_660087;NP_660088;NP_660089;NP_932061;P61244 Hs.285354 1658500;1664728;1667169;1667283;1675638;1771925;2108103;2126618;2154883;2175195;2176004;2190793 A003A45;FNTB_8353;MAX;RH48540;RH66378;RH67850;RH68943;RH69913;RH93897;STS-R42375;WI-18777;WI-9215 MGC10775;MGC11225;MGC18164;MGC34679;MGC36767;bHLHd4;bHLHd5;bHLHd6;bHLHd7;bHLHd8;orf1 OTTHUMP00000183461;OTTHUMP00000183462;OTTHUMP00000183463;OTTHUMP00000183464;OTTHUMP00000183465;OTTHUMP00000246625;OTTHUMP00000246626;OTTHUMP00000246627;OTTHUMP00000246630;OTTHUMP00000246639;OTTHUMP00000246658;class D basic helix-loop-helix protein 4;helix-loop-helix zipper protein;myc-associated factor X;protein max APPROVED protein-coding ENSG00000125952 6913 01113 154950;171300 REVIEWED 1315360 MAZ MYC-associated zinc finger protein (purine-binding transcription factor) 16 16 p11.2 29725356 29730005 + 29817855 29822504 + 1580863;6480464 17927842;11527412;1502157;19242545;19074642;19028685;17902047;17237427;16888022;16648491;15528467;15067082;14765995;12528113;12509857;12477932;12270922;10727212;10493829;10448092;9790757;9685418;8889548;8831693;8626793;1567856;19583771;19615732;21665940;15379550 4150 H3BPU3;H3BQD6;H3BQI4;H3BQS2;H3BRC5;H3BTS8;I3L0M3;I3L0V8;I3L2Z5;I3L411;I3L4D3;I3L4Y2;P56270;Q59GP8 AA588396;AB017335;AB209061;ABBA01013117;AC002301;AC009133;AF489858;AI079560;AI360548;AK074720;AMYH01007495;BC039057;BC041629;BI198991;BM695402;BQ431307;BU615653;BX362240;BX363391;CH471238;CN483327;D85131;EF059746;FJ532357;HY067550;HY087969;L01420;M93339;M94046;NM_001042539;NM_001276275;NM_001276276;NM_002383;NR_074080;U33819 AAB04121;AAC08710;AAH41629;AAL31317;AAN03800;ABN80996;ACS26236;BAA12728;BAA33064;BAD92298;EAW79994;EAW79995;EAW79996;EAW79997;EAW79998;EAW79999;EAW80000;EAW80001;EAW80002;EAW80003;NP_001036004;NP_001263204;NP_001263205;NP_002374;P56270 Hs.23650 1649937;1851614;7187772 D16S429E;STS-L29096 PUR1;Pur-1;SAF-1;SAF-2;SAF-3;ZF87;ZNF801;Zif87 MAZI;myc-associated zinc finger protein;purine-binding transcription factor;serum amyloid A activating factor 1;serum amyloid A activating factor 2;serum amyloid A-activating factor-1;transcription factor Zif87;zinc finger protein 801;zinc-finger protein, 87 kilodaltons protein-coding ENSG00000103495 6914 02999 600999 VALIDATED 1318717 MAU2 MAU2 chromatid cohesion factor homolog (C. elegans) 19 19 19 p13.11 19335703 19373641 + 19292630 19330563 + 19431630 19469563 + 6480464 16682347;16802858;16368877;15489334;14702039;12477932;10048485;7829101;20379614;20562864;23022380;22939629;21934712;21890473 23383 G8JL95;Q9Y6X3 AB020699;ABBA01051323;ABBA01051324;ABBA01051325;ABBA01051326;AC003030;AC022543;AK001349;AK025285;AK025896;AK098275;AK125914;AK126227;AK128029;AL110250;AMYH01009607;BC010222;BC063863;BG149411;BG425236;BI492808;BU617329;BU619900;BY795974;CH471106;NM_015329 AAD03161;AAH10222;BAA74915;BAC05274;BAC86343;BAC86497;BAC87236;CAB53698;EAW84814;EAW84815;EAW84816;EAW84817;NP_056144;Q9Y6X3 Hs.654939;Hs.744479 1720407;1783832;1856576;2156204;5022651 D11S2921;G59006;RH11565;SHGC-156040;T03529 KIAA0892;MAU2L;MGC75361;SCC4;mau-2 MAU2 chromatid cohesion factor homolog;OTTHUMP00000196563;cohesin loading complex subunit SCC4 homolog;protein MAU-2;sister chromatid cohesion 4 APPROVED protein-coding ENSG00000129933 29140 11117 614560 VALIDATED 736833 MATR3 matrin 3 This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX.[provided by RefSeq, Mar 2011] 5 5 q31.2 138637691 138694029 + 138609441 138667366 + 69882;1580863;6480464;7240710 2033075 9757574;9110174;8619474;2180926;17353931;19344878;19240791;18676680;18618731;17658460;17081983;16713569;16189514;15489334;15302935;14702039;12927788;12840015;12477932;12469345;11525732;10931946;9872452;17267499;21145461;21319273;19562669;21182838;17643375;19170196;19625176;19692168;19836620;9630250;9837826;20029029;19454010;23084401;22939629;16196087;18029348;20000738;20421735;21771346;21771347;21771348;17932509;19738201;21642987;21963094;22365833;22623428;22963397;23000965;15840729;17043677;18781797;19596686;20360068;21683594;21858232;21900206;21987572;22178446;19471022;21139048;21549307;21890473;21906983;21252943;21628590;23398456;22053931;22174317;22190034;22505724 9782 A8MXP9;B3KM87;D6R8Z5;D6R991;D6R9F3;D6R9N0;D6RAM9;D6RAY2;D6RB45;D6RBI2;D6RBK5;D6RBS2;D6RCM3;D6RE02;D6REK4;D6REM6;D6RIA2;H0Y8S1;H0Y8T4;P43243;Q9H4N1 AA233906;AB018266;ABBA01068643;ABBA01068644;AC011404;AF117236;AJ224166;AJ224169;AK001388;AK057645;AK293952;AK299399;AK307872;AK309195;AK316420;AL117541;AMYH01015649;AY007157;BC015031;BC036498;BU187803;BX510145;BX537365;BX647153;CH471062;CR749210;CR749625;CR936615;DC333260;DC401586;M63483;NG_012846;NM_001194954;NM_001194955;NM_001194956;NM_018834;NM_199189;NR_036535 AAF17217;AAG02007;AAH15031;ABM85263;ABW03706;BAA34443;BAG50899;BAG57327;BAG61383;BAH14791;CAH18067;CAH18419;CAI56758;EAW62114;EAW62115;EAW62116;EAW62117;NP_001181883;NP_001181884;NP_001181885;NP_061322;NP_954659;P43243 Hs.268939;Hs.595110 1339413;1645031;1679091;1685520;1690312;1717769;1780630;1853948;2150511;2160315;5014039;5014481;5016478;5020948;5022200;5022450;5024761;5037552;5092990 A007K48;A009D38;D10S275;D22S1584;D5S2530;D5S393;D8S2279;G32456;G35510;GDB:434012;L18426;RH121793;RH36905;RH64907;RH69161;RH70751;RH91334;WI-15469;bac51452T DKFZp686K0542;DKFZp686K23100;KIAA0723;MGC9105;MPD2;VCPDM OTTHUMP00000159531;OTTHUMP00000159532;OTTHUMP00000223737;OTTHUMP00000223738;OTTHUMP00000223739;OTTHUMP00000223740;OTTHUMP00000223742;OTTHUMP00000223743;matrin-3;vocal cord and pharyngeal weakness with distal myopathy APPROVED protein-coding ENSG00000015479 6912 05270 164015;606070 REVIEWED 1354197 MB myoglobin This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 22 22 q13.1 34332757 34349347 - 36002811 36019401 - 1582385;1582429;1582427;1582393;1582388;1582428;1580863;6480464;7244253;7244259 15132981;12530625;12788661;15762290;15976963;12558149;23497406;9822635 21256983;18029348;19541931;19005161;17996904;17883274;17605115;17311997;15644316;15601759;15489334;15485667;15461802;15226631;15226628;15048578;14506721;12760310;12745799;12477932;12030657;12006163;11452891;10779502;10591208;9791540;9722578;8007964;7895732;6571704;6326055;5805522;5555226;5555219;5540041;5285572;4627044;2989088;2342104;477257;16712791;19523464;19650765;20668762;20531416;20873231;20124401;12601813;21832049;21782983;21639835;21139048;21601304;21640426;21930697;23297402 4151 B0QYF7;B0QYF8;F2Z2F1;F2Z337;P02144;Q8WVH6 ABBA01055423;AK300657;AK314057;AL022334;AL049747;AMYH01012744;BC014547;BC018001;BQ925917;BQ956082;BU585249;CB140824;CH471095;CR456516;CR541949;DQ003030;M10090;M14602;M14603;NG_007075;NM_005368;NM_203377;NM_203378;X00371;X00372;X00373 AAA59595;AAH14547;AAH18001;AAX84516;ABM84605;ABM87049;BAG36764;BAG62343;CAA25109;CAG30402;CAG46747;CAK54547;CAK54846;EAW60065;EAW60066;EAW60067;NP_005359;NP_976311;NP_976312;P02144 Hs.517586 1679758;1680391;1743131;1790347;2163595;2182937 D22S1549;D22S978E;GDB:270294;MB;RH27830;RH70805 MGC13548;PVALB OTTHUMP00000197919;OTTHUMP00000197921;OTTHUMP00000197922;OTTHUMP00000197935;OTTHUMP00000197936;myoglobin APPROVED protein-coding ENSG00000198125 6915 01170 160000 REVIEWED 1353865 MB21D1 Mab-21 domain containing 1 6 6 6 q13 74529415 74556286 - 74191577 74218764 - 74134856 74162043 - 6480464 16344560;15592455;15489334;14702039;14574404;12477932;23258413;21890473;19322201;21963094;23000965;23722159 115004 A6PW79;Q8N884 ABBA01040316;AC019205;AK097148;AL603910;AMYH01016425;BC012928;BC108714;BC113606;BC113608;BC143694;CH471051;DA375117;KC294566;NM_138441 AAH12928;AAI08715;AAI13607;AAI13609;AAI43695;ADR83057;AGB51853;BAC04965;EAW48769;NP_612450;Q8N884 Hs.658405 1814950;1815652;1815832;1821760;1827694;1830512;1836948;1838598;1838838;1839556;1839810;1841642;1842356;1843424;1845926;1923808;1923810;1923896;1923898;1923900;1923902;1923904;1923906;1923908;1923910;1923912;1923914;1923916;1923918;1923920;1923922;1923924;1923926;1923928;1923930;1923932;1923934;1923936;1923938;1923940;1923942;1923944;1923946;1923948;1923950;1923952;1923954;1923956;1923958;1923960;1923962;1923964;1923966;1923968;1923970;1923972;1923974;1923976;1923978;1923980;1923982;1923984;1923986;1923988;1923990;1923992;1923994;1923996;1923998;1924000;1924002;1924004;1924006;1924008;1924010;1924012;1924014;1924016;1924018;1924020;1924022;1924024;1924026;1924028;1924030;1924032;1924034;1924036;1924038;1924040;1924042;1924044;1924046;1924048;1924050;1924052;1924054;1924056;1924058;1924060;1924062;1924064;1924066;1924068;1924070;1924072;1924074;1924076;1924078;1924080;1924082;1924084;1924086;1924088;1924090;2207322;2207324;2207326;2207328;2207330;2207332;2207334;2207336;2207338;2207340;2207342;2207344;2207346;2207348;2207350;2207352;2207354 ECD08506;ECD08864;ECD08956;ECD11966;ECD14968;ECD16391;ECD19638;ECD20473;ECD20598;ECD20960;ECD21088;ECD22018;ECD22381;ECD22921;ECD24183;REN32728;REN32729;REN32772;REN32773;REN32774;REN32775;REN32776;REN32777;REN32778;REN32779;REN32780;REN32781;REN32782;REN32783;REN32784;REN32785;REN32786;REN32787;REN32788;REN32789;REN32790;REN32791;REN32792;REN32793;REN32794;REN32795;REN32796;REN32797;REN32798;REN32799;REN32800;REN32801;REN32802;REN32803;REN32804;REN32805;REN32806;REN32807;REN32808;REN32809;REN32810;REN32811;REN32812;REN32813;REN32814;REN32815;REN32816;REN32817;REN32818;REN32819;REN32820;REN32821;REN32822;REN32823;REN32824;REN32825;REN32826;REN32827;REN32828;REN32829;REN32830;REN32831;REN32832;REN32833;REN32834;REN32835;REN32836;REN32837;REN32838;REN32839;REN32840;REN32841;REN32842;REN32843;REN32844;REN32845;REN32846;REN32847;REN32848;REN32849;REN32850;REN32851;REN32852;REN32853;REN32854;REN32855;REN32856;REN32857;REN32858;REN32859;REN32860;REN32861;REN32862;REN32863;REN32864;REN32865;REN32866;REN32867;REN32868;REN32869;stSG625889;stSG625890;stSG625891;stSG625892;stSG625893;stSG625894;stSG625895;stSG625896;stSG625897;stSG625898;stSG625899;stSG625900;stSG625901;stSG625902;stSG625903;stSG625904;stSG625905 C6orf150;MGC131892;MGC142166;MGC142168;cGAS;h-cGAS OTTHUMP00000016743;OTTHUMP00000194907;OTTHUMP00000196169;cGAMP synthase;cyclic GMP-AMP synthase;hypothetical protein LOC115004;mab-21 domain-containing protein 1;protein MB21D1 APPROVED protein-coding 21367 12857 613973 VALIDATED 5477527 MBD3L3 methyl-CpG binding domain protein 3-like 3 19 19 p13.2 7007216 7009645 - 7056216 7058645 - 15057824 653657 A6NE82 AC010606;AMYH01009387;NM_001164425 A6NE82;NP_001157897 Hs.448960 MBD3-like 3;MBD3-like protein 3;putative methyl-CpG-binding domain protein 3-like 3 protein-coding ENSG00000182315 37205 VALIDATED 5477533 MBD3L4 methyl-CpG binding domain protein 3-like 4 This gene encodes a member of a family of proteins that are related to methyl-CpG-binding proteins but lack the methyl-CpG binding domain. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Aug 2009] 19 19 p13.2 6988755 6991184 - 7037755 7040184 - 15057824 653656 A6NDZ8 AC010606;AMYH01009384;AMYH01009385;AMYH01009386;AMYH01009387;NM_001164419 A6NDZ8;NP_001157891 Hs.723810 MBD3-like 4;MBD3-like protein 4;putative methyl-CpG-binding domain protein 3-like 4 protein-coding ENSG00000205718 37206 PROVISIONAL 5477562 MBD3L5 methyl-CpG binding domain protein 3-like 5 19 19 p13.2 6981594 6984022 + 7030594 7033022 + 15057824 284428 A6NJ08 ABBA01177859;AC010606;NM_001136507 A6NJ08;NP_001129979 Hs.717312 1783798 SHGC-144858 MBD3-like 5;MBD3-like protein 5;putative methyl-CpG-binding domain protein 3-like 5 protein-coding ENSG00000237247 37204 PROVISIONAL 1601820 MB21D2 Mab-21 domain containing 2 3 3 3 q29 190940598 191061951 - 193997298 194118644 - 192514604 192635950 - 6480464 15489334;14702039;12477932;20379614;21139048 151963 Q8IYB1 ABBA01058296;ABBA01058297;ABBA01058298;ABBA01058299;ABBA01058300;ABBA01058301;AC090025;AC117416;AK002025;AK056276;AK290447;AMYH01013765;AMYH01013766;AMYH01013767;AMYH01013768;AMYH01013769;BC013123;BC036194;BC045582;BX648517;CH471052;NM_178496 AAH13123;AAH36194;AAH45582;BAF83136;BAG51663;EAW78082;EAW78083;NP_848591;Q8IYB1 Hs.151443 1644656;1710390;1724609;1739307;1747823;1750113;2111091;2122599;2124957;2143996;2179887;5121727;5121729 A006H10;D3S1503E;D3S2867E;D3S3297E;G20801;G66834;RH121302;RH16535;SHGC-112244;SHGC-33221;SHGC-57353;SHGC-77664;SHGC-82467 C3orf59 OTTHUMP00000208598;hypothetical protein LOC151963;mab-21 domain-containing protein 2;protein MB21D2 APPROVED protein-coding ENSG00000180611 30438 14092 VALIDATED 1312368 MBD2 methyl-CpG binding domain protein 2 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 18 18 q21 49934573 50005156 - 51677971 51751158 - 1580863;6480464 17688412;17634428;17360956;17353267;17081983;16998846;16951344;16428440;16168120;16052033;15701600;15489334;15456747;15112265;14688029;14610093;12665568;12646234;12588985;12477932;12388720;12183469;12177048;12124384;11960994;11756549;11710831;11553631;11297506;11102443;10950960;10947852;10471499;10444591;10050851;9804427;9790534;9610721;14633992;15674330;18414412;10441743;11984006;9774669;19124506;19019634;18952593;18931530;18830263;18676680;21086164;22258532;19505873;16415179;17049487;19170196;19625176;19690890;19692168;20453000;16410616;16980624;19454010;19661918;20300195;21078759;20937307;17634443;21165562;21316665;23071088;22876037;21296012;21377502;20523938;21937684;21724586;23239876;21693597;22048253 8932 J3KSA7;Q9UBB5 ABBA01018714;ABBA01018715;AC090666;AC093462;AF039701;AF072242;AF072246;AF072252;AF120988;AF120989;AF120994;AL110266;AMYH01009010;AMYH01009011;AW151547;AW274866;BC032638;BE540652;BQ228712;CH471096;NG_029550;NM_003927;NM_015832 AAC18050;AAC68871;AAC68875;AAD56596;AAD56597;AAH32638;CAH10725;EAW62997;EAW62998;EAW62999;NP_003918;NP_056647;Q9UBB5 Hs.25674 1340561;1683341;1710120;1791396;2116666;7185395 D18S487;PMC109239P1;RH36568;RH98619;SHGC-81536 DKFZp586O0821;DMTase;NY-CO-41 OTTHUMP00000163558;demethylase;methyl-CpG-binding domain protein 2;methyl-CpG-binding protein MBD2 APPROVED protein-coding ENSG00000134046 6917 04647 603547 REVIEWED 1314332 MBD1 methyl-CpG binding domain protein 1 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011] 18 18 q21 46049214 46062142 - 47793252 47808144 - 6480464 10454587;12665582;10866667;9774669;18668384;18666890;18445260;17634428;17428788;17066076;16998846;16757475;16696318;16432238;16284366;16094384;15777793;15691849;15489334;15327775;15231748;15081425;14728690;14610093;14555760;12788925;12770674;12711603;12697822;12646234;12477932;12384770;12124384;10648624;10581239;10441743;10187827;9207790;8125298;19666599;20062064;20211142;20819778;15851553;19074829;21326358;22990118;21832049;19471022;21693764;21890473;21491466;16713569 4152 A8K654;B4DI41;B4DUR3;K7EIN3;K7ELI2;K7EMA9;K7EN65;K7EPZ6;K7EQZ4;K7ESN0;Q9UNZ6 AB209765;ABBA01018670;AC090246;AF072241;AF078830;AF078831;AF078832;AF078833;AF120979;AF120980;AF120981;AF120982;AJ564845;AK225889;AK225948;AK291519;AK295401;AK300759;AK302004;AMYH01008995;BC033242;BC047353;BP384783;CD723822;CH471096;DB458244;DC403953;EF488685;NG_029505;NM_001204136;NM_001204137;NM_001204138;NM_001204139;NM_001204140;NM_001204141;NM_001204142;NM_001204143;NM_001204151;NM_002384;NM_015844;NM_015845;NM_015846;NM_015847;Y10746 AAC68870;AAD50371;AAD51442;AAD51443;AAD51444;AAD51445;AAH33242;ABP02056;BAD93002;BAF84208;BAG58353;BAG62425;BAG63407;CAA71735;CAD92308;EAW62962;EAW62963;EAW62964;EAW62965;EAW62966;EAW62967;NP_001191065;NP_001191066;NP_001191067;NP_001191068;NP_001191069;NP_001191070;NP_001191071;NP_001191072;NP_001191080;NP_002375;NP_056669;NP_056670;NP_056671;NP_056723;Q9UIS9 Hs.405610 1644849;1666972;1676302;1687489;1734588;2107981;2154670;2176029;2176031;2180856;5093180 A005R33;A009I40;CXXC1_8030;D18S1024;D18S942E;G20447;G32567;RH91758;RH94118;SHGC-57822;WI-19692 CXXC3;PCM1;RFT CXXC-type zinc finger protein 3;OTTHUMP00000163504;OTTHUMP00000163505;OTTHUMP00000163506;OTTHUMP00000163507;methyl-CpG binding domain protein 1 isoform PCM1;methyl-CpG-binding domain protein 1;methyl-CpG-binding protein MBD1;protein containing methyl-CpG-binding domain 1;the regulator of fibroblast growth factor 2 (FGF-2) transcription APPROVED protein-coding ENSG00000141644 6916 01133 156535 REVIEWED 1601828 MBD3L2 methyl-CpG binding domain protein 3-like 2 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. [provided by RefSeq, Jul 2008] 19 19 p13.2 7000351 7002746 + 7049351 7051746 + 6480464 15701600;12504854;12477932;23239876 125997 Q8NHZ7 ABBA01009192;AC010606;AF503919;AMYH01009387;CH471139;NM_144614 AAI72325;AAM28154;EAW69051;NP_653215;Q8NHZ7 Hs.567667 1783798 SHGC-144858 MBD3-like protein 2;methyl-CpG-binding domain protein 3-like 2 APPROVED protein-coding ENSG00000230522 18532 12139 607964 REVIEWED 1343390 MBL1P mannose-binding lectin (protein A) 1, pseudogene 10 10 10 q22.3 75670857 75673805 + 81669914 81672855 + 81679934 81682875 + 6480464 16115813;15716605;15458704;9501312;20210993;21889966 8512 ABBA01003818;AF019382;AL512662;AMYH01002881;NR_002724 Hs.733579 1769803 STS-H92757 COLEC3P;MBL1P1 APPROVED pseudo ENSG00000242600 6921 VALIDATED 1317930 MBD3L1 methyl-CpG binding domain protein 3-like 1 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8836084 8836831 + 8814332 8814995 + 8953269 8954016 + 1580863 15489334;15456747;12920132;12504854;12477932;23239876 85509 Q8WWY6 AB451462;ABBA01014652;AC008734;AMYH01009457;AY038022;BC112058;BC112064;CH471106;NM_145208 AAI12059;AAI12065;AAK72591;BAG70276;EAW83996;NP_660209;Q8WWY6 Hs.133912 2217594;5492475;5493303 MBD3L1_3698;UniSTS:481223;UniSTS:485638 MBD3L;MGC138263;MGC138269 MBD3-like protein 1;methyl-CpG-binding domain protein 3-like 1 APPROVED protein-coding ENSG00000170948 15774 12138 607963 REVIEWED 1343274 MBL3P mannose-binding lectin family member 3, pseudogene 10 q22.3 81342054 81344633 - 14557465;19059118;20579738 50639 ABBA01020206;AMYH01002862;BX248123;NG_029674 COLEC2;MBL APPROVED pseudo 2221 INFERRED 1316562 MBD3 methyl-CpG binding domain protein 3 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 p13.3 1527678 1543652 - 1576678 1592652 - 1580863;6480464 9774669;12183469;17452452;16428440;15701600;15489334;15456747;15057824;14702039;12705869;12477932;12354758;12124384;11836615;11756549;11331609;11102443;10947852;10471500;10444591;10441743;9804427;9790534;2470348;15454082;17049487;17827154;18500823;18602768;18644863;19041848;20004753;8889548;11297506;12453419;16091750;16159877;16738318;19454010;20388487;20676135;21196933;23281010;17626165;20127688;20523938;20547755;23239876;22939629;21937684;19703393;21139048;21532573;21890473;22196727;19322201;21670149;16469706;21258344;22678362;23361464;23455924;23752268 53615 K7EIE8;O95983 AA576859;ABBA01002663;AC005943;AF072247;AK001474;AK021532;AK092508;AK290882;AL390153;AMYH01009255;BC000872;BC009372;BC009438;BC018784;BC032443;BC043619;BM684485;BU181763;CH471139;NG_029897;NM_001281453;NM_001281454;NM_003926;X58233 AAC68876;AAC72104;AAH09372;AAH09438;AAH18784;AAH32443;AAH43619;BAF83571;BAG50920;CAA41191;EAW69477;EAW69478;EAW69479;EAW69480;EAW69481;NP_001268382;NP_001268383;NP_003917;O95983 Hs.178728;Hs.595754 1690175;1730205;1797142 D1S281E;MBD3;RH91108 methyl-CpG-binding domain protein 3;methyl-CpG-binding protein MBD3 APPROVED protein-coding ENSG00000071655 6918 04653 603573 REVIEWED 1322301 MBD6 methyl-CpG binding domain protein 6 12 12 12 57572491 57579763 + 56202926 56210198 + 57916659 57923931 + 1580863;6480464 12477932;20700456;14702039;12529184;11572484;16169070;18029348;19322201;23055267;16713569;23052207 114785 F8VNX1;F8VPC4;F8VU14;F8VVK7;F8VW40;F8VZD7;H0YHD1;H0YHN1;H0YIU1;Q6P0P0;Q96DN6 AB067474;ABBA01026698;ABBA01026699;ABBA01026700;AC022506;AK056399;AK093078;AK296990;AL834230;AMYH01004522;BC034295;BC040149;BC051370;BC065530;CH471054;CR627478;NM_052897 AAH65530;BAB67780;BAB71176;BAC04045;BAG59530;CAD38908;CAH10678;EAW97024;EAW97025;EAW97026;NP_443129;Q96DN6 Hs.524523 1655432;1728955;1744241;1769907;1792348;1792408;1850637;2108245;2183069 D10Wsu93e;D12S1943;GDB:438520;MBD6_8173;PMC149351P3;PMC150726P8;RH17412;RH17902;RH70660 KIAA1887 OTTHUMP00000242810;methyl-CpG-binding domain protein 6;methyl-CpG-binding protein MBD6 protein-coding ENSG00000166987 20445 11296 VALIDATED 1602638 MBLAC1 metallo-beta-lactamase domain containing 1 7 7 7 q22.1 94459580 94461384 + 99562253 99564057 + 99724317 99726121 + 6480464 12690205;12477932 255374 A4D2B0;C9JAV3 AACC02000084;ABBA01013235;AC073842;AMYH01017727;AW449216;AW772344;BC031288;BQ441096;CH236956;CH471091;NM_203397 A4D2B0;AAH31288;EAL23849;EAW76587;NP_981942 Hs.632319 1682628;2180267 RH99005;SHGC-57793 MGC39819 OTTHUMP00000206812;OTTHUMP00000210552;metallo-beta-lactamase domain-containing protein 1 protein-coding ENSG00000214309 22180 18584 VALIDATED 1344111 MBD5 methyl-CpG binding domain protein 5 This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010] 2 2 2 q23.1 142492728 142985183 + 148932508 148987516 + 148778580 149271046 + 1580863;6480464;7240710 17847001;15489334;14702039;12529184;12477932;12421765;10819331;20700456;20936779;16344560;19904302;21271666;21981781;23055267 55777 E9PHH0;H7C066;Q9P267 AB040894;ABBA01028004;ABBA01028005;ABBA01028006;ABBA01028007;ABBA01028008;ABBA01028009;ABBA01028010;ABBA01028011;AC016731;AC018465;AC019070;AC019226;AC079391;AC092605;AK055079;AK090496;AK304424;AMYH01011153;AMYH01011154;AMYH01011155;AMYH01011156;BC014534;BC150264;CA449443;CH471058;DA240785;EF542797;NG_017003;NM_018328 AAI50265;AAY14912;ABQ18300;BAA95985;BAG52172;BAG65253;EAX11550;EAX11551;EAX11552;NP_060798;Q9P267 Hs.458312 1298121;1334630;1335255;1337844;1687467;1709656;1714163;1754621;1774154;1775341;1778404;1792346;1855801;2108243;2113898;2115859;2132608;2160291;2169591;2175342;2191259;5015093;5121420 A004M40;AB055304;D2S1287;D2S2184;D2S222;D2S2335;D2S2365;D2S2925;G09491;G16397;MARC_16821-16822:1021560530:2;MBD5_8066;PMC149351P2;RH119690;RH45661;RH69599;RH92574;SHGC-132968;SHGC-152978;SHGC-31239;SHGC-58144;SHGC-61983;SHGC-85194 FLJ11113;FLJ30517;KIAA1461;MRD1 OTTHUMP00000197369;OTTHUMP00000197370;methyl-CpG-binding domain protein 5;methyl-CpG-binding protein MBD5 APPROVED protein-coding ENSG00000204406 20444 11295 156200;611472 REVIEWED 7175184 MBNL1-AS1 MBNL1 antisense RNA 1 3 q25.1 151980405 151987415 - 14702039;16341674;11181995 401093 AA884826;ABBA01058899;AC106722;AK026494;AK126417;AK304857;AK316515;AMYH01013584;BM790896;CH471052;NR_027037;NR_027038 BAG65595;BAH14886;EAW78786;EAW78787;EAW78788 Hs.725347 1655312;1663036;1684912;2178321 RH48416;RH92411;SHGC-77467;STS-N21420 miscrna 44584 VALIDATED 1314857 MBIP MAP3K12 binding inhibitory protein 1 14 14 14 q13.3 16631420 16653542 - 35837521 35859596 - 36767764 36789882 - 1580863;6480464 10801814;18029348;16189514;15489334;12477932;11042152;1495496;18838386;17207965;19060904;21988832;15840729;22267200;19471022;21139048;21693764;21906983;23408906 51562 B2RCV0;Q9NS73 AA761503;AB038523;ABBA01061523;AF208857;AK293473;AK315290;AL137226;AMYH01005673;BC005197;BC016821;BX248287;CH471078;NM_001144891;NM_016586 AAF64271;AAH05197;AAH16821;ADQ31677;BAA94083;BAG37697;BAG56966;CAD62615;EAW65862;EAW65863;EAW65864;EAW65865;NP_001138363;NP_057670;Q9NS73 Hs.368647 1649407;1742659;1742665;2109499;5022657 GDB:198189;GDB:198192;MBIP;MBIP_9739;STS-W55968 MAP3K12-binding inhibitory protein 1;MAPK upstream kinase-binding inhibitory protein;MUK-binding inhibitory protein;OTTHUMP00000178844;OTTHUMP00000244269;OTTHUMP00000244270;OTTHUMP00000244271;OTTHUMP00000244272 protein-coding ENSG00000151332 20427 14368 609431 VALIDATED 1313885 MBD4 methyl-CpG binding domain protein 4 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 3 3 q21.3 130632483 130641542 - 129149793 129158852 - 1580863;2316846;6480464;6907045 19469655 10097147;12702765;14667819;9774669;10583946;11937636;18029348;19403629;18676680;18519584;18495292;18162445;17360956;17285135;17143486;17049487;16831587;16803845;15899845;15489334;15205355;12926109;12477932;12430186;12220634;11836615;11056019;10930409;10545939;10499592;10441743;9823339;18452947;19170196;19395862;19625176;19692168;20100009;20226869;20453000;20522537;20731661;20574454;20644561;22848106;21377502;21820404;22318606;21900206;21971312;19471022;21139048;21890473;20676650;14614141;22560993;23316048;12766061;15342556;21988832;23027038;23275563 8930 D6RBI7;E9PEE4;O95243 ABBA01059231;AF072250;AF114784;AF120999;AF494057;AF532602;AK303013;AK312878;AL449212;AM180876;AMYH01013476;BC011752;BC034463;BP370521;BY997577;CD678412;CH471052;CR450305;DB568237;NG_033106;NM_001276270;NM_001276271;NM_001276272;NM_001276273;NM_003925 AAC68879;AAD22195;AAD50374;AAH11752;AAM00008;AAP97338;ADZ15439;BAG64144;CAG29301;CAJ55826;EAW79251;EAW79252;EAW79253;EAW79254;EAW79255;NP_001263199;NP_001263200;NP_001263201;NP_001263202;NP_003916;O95243 Hs.35947 1687594;1855977;2135497 RH78192;RH93317;STS-AA010492 MED1 3,N(4)-ethenocytosine glycosylase;G/5-fluorouracil mismatch glycosylase with biphasic kinetics;G/T mismatch glycosylase;G/U mismatch glycosylase;OTTHUMP00000215413;OTTHUMP00000215522;OTTHUMP00000215523;OTTHUMP00000215694;methyl-CpG-binding domain protein 4;methyl-CpG-binding endonuclease 1;methyl-CpG-binding protein MBD4;mismatch-specific DNA N-glycosylase;putative methyl-CpG binding protein APPROVED protein-coding ENSG00000129071 6919 04654 603574 REVIEWED 735547 MBL2 mannose-binding lectin (protein C) 2, soluble This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jul 2008] 10 10 q11.2 54195146 54201466 - 54525140 54531460 - 1582151;1582150;1582153;1582154;1582155;1580863;4889447;4889459;4889436;4889467;4889478;4889479;4889496;4889579;4889421;4889155;4889443;4889477;4889425;4889433;4889448;4889453;4889458;4889456;4889476;4889156;4889446;4889484;4889439;4889577;4889452;4889483;6480464;6903268;6903260;6903263;6903267;6903262;6903266;6903259;6903261;6907045;7240710 15295097;15790942;16385529;15730518;15693089;10449435;18988662;10652157;15838797;12047967;18637104;18582923;20068595;20688922;9631454;16879250;18641104;20568383;19959685;19411612;19169708;19083122;19104434;17133182;16955210;19467940;19593977;19767106;11474427;19199550;19804807;17202308;19330263;15509537;19715891;15882434;21510992;21054877;16801331 7982896;1458688;10725420;22183303;22380611;15829302;15829288;15753758;15742161;15728497;15723707;15697204;15674393;15653690;15647440;15645196;15627619;15592292;15535834;15516675;15489334;15488604;15480986;15472209;15467537;15381817;15381182;15306844;15292002;15254284;15249448;15161763;15148337;15144709;15127191;15101708;15061663;14994386;14764589;14739370;14669753;14582818;14564351;12957407;12934195;12921293;12918709;12847552;12770793;12761563;12715245;12699957;12672193;12651071;12648279;12641410;12640191;12595908;12560567;12517417;12492252;12485445;12477932;12472676;12439623;12393699;12375325;12370377;12175909;11986203;11906616;11891230;11804586;11781711;11737072;11712863;11564800;11560994;11487077;11393663;11361219;11302870;11274270;11255386;11196698;11196679;11145046;11023480;10888598;10878362;10578050;10447262;10368295;9799711;9743385;9570553;9476117;9087411;8206524;8062452;2477488;12421953;18596036;11549596;11532276;18029348;10639434;10925294;1304173;19527514;19481774;19480845;19477015;19468207;19432958;19430499;19425063;19416237;19408100;19380618;19371855;19366862;19344414;19336370;19328949;19307021;19286845;19276308;19275921;19273450;19258923;19252378;19238444;19185543;19161617;19143554;19139195;19094203;19086549;19073229;19064572;19057812;19056797;19050632;19035512;19021583;19019335;18988385;18957309;18952132;18950864;18936436;18927129;18847375;18831943;18823346;18818748;18782274;18754287;18729778;18715406;18700861;18676680;18637753;18633131;18612667;18611155;18602696;18602571;18592362;18562462;18552214;18543229;18498240;18496832;18495592;18494378;18486762;18478332;18455525;18452612;18415846;18400978;18396436;18374983;18368489;18361938;18361935;18348874;18347304;18336595;18334024;18322223;18317236;18292811;18288881;18231631;18221301;18214570;18211540;18209939;18194386;18192915;18177377;18174230;18166320;18091754;18082567;18052966;18031556;17990579;17942372;17942155;17922403;17921115;17898783;17896801;17875183;17872904;17869647;17855170;17848669;17846289;17845414;17763324;17703412;17678865;17665457;17659761;17653692;17652092;17651383;17634432;17626901;17610322;17610319;17567900;17565323;17559949;17554527;17552055;17513174;17496053;17484222;17482281;17480019;17478467;17470593;17442954;17442667;17439930;17419286;17380431;17357060;17337399;17314117;17311505;17303612;17289451;17275645;17266113;17259116;17222001;17195187;17178888;17174748;17157384;17096357;17092257;17083312;17083310;17072973;17071626;17045187;17044201;17014624;16960176;16953214;16951387;16916656;16912583;16911830;16856624;16827883;16792667;16751976;16750996;16738667;16729310;16721783;16681863;16677572;16553818;16522396;16517152;16500704;16487239;16476012;16439442;16429424;16369192;16320344;16256117;16231358;16220211;16216673;16214215;16208516;16200716;16185324;16178865;16170752;16152689;16115848;16112196;16110781;16105157;16102832;16099912;16099048;16083697;16046196;16034120;16029433;16006058;15994813;15989776;15888042;15857180;15855341;15853952;7707811;7634089;2590164;2477486;2450948;1675710;1672848;22050689;1303250;12487819;16094691;15572157;15117456;12941144;8666845;8267903;20833838;21557458;22082351;22607836;11485744;15148336;16385451;18727690;19170196;19423540;19465640;19466271;19501100;19517215;19540295;19557622;19580835;19590686;19606686;19625176;19657091;19692168;19703233;19709662;19711212;19716183;19729601;19738092;19789190;19790141;19796526;19796822;19817957;19827946;19833760;19840833;19854517;19879913;19891773;19896716;19939454;19969625;20022898;20038440;20042521;20056178;20065005;20078874;20087947;20110521;20132924;20150204;20172753;20182871;20193030;20196868;20207250;20237496;20298391;20331378;20331735;20334849;20351616;20356797;20374367;20406964;20408832;20438785;20442634;20443743;20452482;20453525;20463618;20499118;20503287;20504205;20522590;19775369;20127985;19352197;19917506;19853314;21054788;20079790;20642202;20605050;20848568;20881011;20887383;20930093;21045008;21088049;19913121;20570631;20573835;20592033;20593422;20595266;20598754;20610664;20618520;20628086;20636396;20650301;20673868;20682603;20693349;20712489;20712490;20732365;20799037;20140243;21091907;21695215;21203938;21192229;21106539;22820623;22848725;22633170;23289185;21211797;21394075;21592999;21182784;21194488;21722964;21488869;21171930;21707593;21733090;21334396;21142772;21729275;21327568;21536088;21911261;21702710;22022564;22974720;22994203;23000377;23062612;23172101;21281477;21920399;21974696;21554230;21640628;22221294;22441636;22674410;22774989;22206649;21496252;21895981;22131319;22258234;23225056;22247351;22225939;22301353;22578937;22673492;21655939;21893516;22002015;22019001;22050925;22134613;22172537;22173059;22215653;22282660;22302853;22335808;22363494;22377282;21681178;22504420;22444663;23065234;23448728;22512728;22650645;21544638;23094532;22296677;22360648;23000376;22523362;23326517;22762710;23423485;22331020;23073041;22938690 4153 P11226;Q5SQS3 AB025350;ABBA01052515;AF080508;AF080510;AF360991;AF482699;AF482700;AL583855;AL731550;AMYH01002744;AY826184;BC069338;BC096179;BC096180;BC096181;BC096182;CH471083;CS251180;DQ217939;EU596574;JA630840;JA638704;JA638769;JA638834;JA672739;JA878796;JA883833;JA883898;NG_008196;NM_000242;X15422;X15954;Y16576;Y16577;Y16578;Y16579;Y16580;Y16581;Y16582 AAC31937;AAH69338;AAH96179;AAH96180;AAH96181;AAH96182;AAK52907;AAN39274;AAN39275;AAV80468;ABB01009;ACC62880;BAB17020;CAA33462;CAA34079;CAB56044;CAB56045;CAB56120;CAB56121;CAB56122;CAB56123;CAB56124;CAJ58412;CCE53522;CCE67084;CCE67089;CCE67094;CCF12075;CCQ77659;CCQ77665;CCQ77670;EAW54148;EAW54149;NP_000233;P11226 Hs.499674 1651811;1714157;1742247;1796304;2113944;2159362;2170803;2178353;2178604 D10S1570;D10S2146;G10512;GDB:193870;MBL2;MBL2_461;RH119687;STS-X15422;STS-X15955 COLEC1;HSMBPC;MBL;MBL2D;MBP;MBP-C;MBP1;MBPD;MGC116832;MGC116833 MBP-C;OTTHUMP00000019622;collectin-1;mannan-binding lectin;mannose-binding lectin (protein C) 2, soluble (opsonic defect);mannose-binding lectin 2, soluble (opsonic defect);mannose-binding protein C;mannose-binding protein c (liver) APPROVED protein-coding ENSG00000165471 6922 01107 154545;614372 REVIEWED 1601715 MBLAC2 metallo-beta-lactamase domain containing 2 5 5 5 q14.3 85655867 85672432 - 89789776 89806341 - 89754020 89770585 - 6480464 14702039;12477932;21139048;21890473;21963094;22505724 153364 B3KY36;Q68D91 ABBA01062154;AC093510;AI288430;AK096942;AK128603;AK289778;AMYH01015476;BC038230;BI918374;CH471084;CR749512;NM_203406 AAH38230;BAC04908;BAF82467;BAG54698;CAH18329;EAW95979;NP_981951;Q68D91 Hs.64004 1338598;1768193;5092632;7186665 A005C27;D5S618;G32227 DKFZp686P15118;MGC46734 OTTHUMP00000162004;beta-lactamase-like;metallo-beta-lactamase domain-containing protein 2 protein-coding ENSG00000176055 33711 14099 VALIDATED 1602605 MBOAT4 membrane bound O-acyltransferase domain containing 4 8 8 8 p12 28948589 28961567 - 30109001 30121966 - 29989187 30002200 - 6480464 18443287;19479831;19628676;21035823;21150588;22869322;21646729;21930173 619373 Q96T53 ABBA01023671;AC026979;AF359269;AMYH01018617;CH471080;EU518495;NM_001100916 AAK43717;ACB05873;EAW63467;NP_001094386;Q96T53 Hs.627194 FKSG89;GOAT;OACT4 O-acyltransferase (membrane bound) domain containing 4;O-acyltransferase domain-containing protein 4;OTTHUMP00000225065;ghrelin O-acyltransferase;membrane-bound O-acyltransferase domain-containing protein 4 protein-coding ENSG00000177669 32311 611940 VALIDATED 1314050 MBOAT2 membrane bound O-acyltransferase domain containing 2 2 2 2 p25.1 8911342 9013310 - 8914152 9061327 - 8996701 9143876 - 737633;6480464;6907045 12477932 17890783;16303743;15489334;14702039;9110174;8619474 129642 C9J2H7;F8WDJ6;H7C5D1;Q6ZWT7 AB305044;ABBA01015574;AC012495;AC112723;AF052107;AK027321;AK074779;AK295907;AK309818;AK315881;AMYH01010091;AMYH01010092;BC016005;BC146871;BC157827;CH471053;NM_138799 AAH16005;AAI46872;AAI57828;BAC11204;BAC85105;BAF93900;BAF98772;BAH12219;EAX01013;NP_620154;Q6ZWT7 Hs.467634;Hs.593538 1341747;1652294;1655733;1663320;1681394;1687804;1689917;1783958;1848989;2170072 D2S2919;D2S415;G29251;RH18247;RH80026;RH92405;RH99216;SHGC-112561;STS-Z40580;WI-20514 FLJ14415;FLJ90298;LPCAT4;OACT2 1-acylglycerophosphate O-acyltransferase;1-acylglycerophosphoethanolamine O-acyltransferase;LPAAT;LPEAT;LPLAT 2;O-acyltransferase domain-containing protein 2;OTTHUMP00000115421;lyso-PA acyltransferase;lyso-PE acyltransferase;lysophosphatidic acid acyltransferase;lysophosphatidylethanolamine acyltransferase;lysophospholipid acyltransferase 2;membrane-bound O-acyltransferase domain-containing protein 2 protein-coding 25193 11410 611949 VALIDATED 1351867 MBS1 Moebius syndrome 1 7240710 1870098 4156 6926 1322766 MBOAT1 membrane bound O-acyltransferase domain containing 1 This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 6 6 6 p22.3 21334020 21445825 - 20208914 20320649 - 20100935 20212670 - 737633;6480464;6907045 12477932 18287005;17890783;17440500;15489334;14702039;14574404;18718904;18772128;18821565;20339536;23251661;8889548 154141 Q6ZNC8 AB305043;ABBA01022249;ABBA01022250;AK093994;AK131269;AK296857;AK304748;AL008627;AL158198;AL355139;AMYH01016133;AMYH01016134;BC045695;BC150650;BC150652;BM978819;NM_001080480;NR_073465 AAI50651;AAI50653;AAI56594;BAC04264;BAD18447;BAF93899;BAG59421;BAG65506;NP_001073949;Q6ZNC8 Hs.377830 1649295;1679509;1731977;1788868;2112226;5014051;5015619;5022200;5037552 D11S3114;D6S2246;D6S488;D8S2278;D8S2279;G67630;L18426;RH48125;STS-D29509 1;LPEAT1;LPLAT;LPLAT 1;LPSAT;MGC44669;OACT1;dJ434O11.1 1-acylglycerophosphoserine O-acyltransferase;LPLAT 1;LPSAT;O-acyltransferase domain-containing protein 1;OTTHUMP00000016082;lyso-PS acyltransferase;lysophosphatidylethanolamine acyltransferase 1;lysophosphatidylserine acyltransferase;lysophospholipid acyltransferase 1;membrane-bound O-acyltransferase domain-containing protein 1 APPROVED protein-coding 21579 611732 REVIEWED 1348518 MBS2 Moebius syndrome 2 7240710 8872479 7880 1340665 D3S1292 6927 1346632 MBS3 Moebius syndrome 3 7240710 10441582 22811 1337516;1338112 D10S502;D10S581 6928 1606580 MBNL1 muscleblind-like splicing regulator 1 3 3 q25 153468519 153666259 + 151985829 152183569 + 6480464 18335541;22113158;10970838;19095965;19043415;16946708;16920640;16394256;16273094;15961406;15546872;15257297;14722159;12477932;11929853;11590133;11433021;9455477;8889548;17942744;17846170;16717059;19345584;19805260;20519504;21832049;22939629;23739326;21454535;21439371;21548961;21685920;21832083;21900255;21139048;21906983;22890842;22106026;22558309;22306654;19738201;21988832;22355723;22623428;23166594;21623381;22505724;22520280 4154 C9J4T8;C9J7P7;C9JCX1;C9JP00;H7C4T5;H7C4Y1;Q86VM6;Q9NR56 AB007888;ABBA01058896;ABBA01058897;ABBA01058898;ABBA01058899;AC026347;AC106722;AF255334;AF395876;AF401998;AF497718;AF497719;AI971426;AJ308400;AK297133;AK304089;AK307420;AMYH01013584;AW204030;BC005296;BC043493;BC050535;BM686432;BQ223290;BX537491;CH471052;CR749454;NM_021038;NM_207292;NM_207293;NM_207294;NM_207295;NM_207296;NM_207297;Y13829 AAF76138;AAH43493;AAH50535;AAK82889;AAK94915;AAP30726;AAP30727;ABZ92514;BAA24858;BAG59637;BAG64995;CAA74155;CAC83727;CAH18290;EAW78775;EAW78776;EAW78777;EAW78778;EAW78779;EAW78780;EAW78781;EAW78782;EAW78783;NP_066368;NP_997175;NP_997176;NP_997177;NP_997178;NP_997179;NP_997180;Q9NR56 Hs.201858;Hs.725347 1341733;1342114;1645137;1655312;1660353;1667363;1671209;1684912;1701244;1716077;1735132;1735146;1778103;2148363;2151588;2175172;2178321;5017747;7187788 D3S1237;D3S1280;D3S2796E;D3S2805E;MBNL1;RH104250;RH121002;RH36544;RH48416;RH65783;RH92411;SGC34207;SHGC-14582;SHGC-17260;SHGC-32912;SHGC-77464;SHGC-77465;STS-N21420 DKFZp686P06174;EXP;EXP35;EXP40;EXP42;KIAA0428;MBNL OTTHUMP00000214226;OTTHUMP00000214227;OTTHUMP00000214228;OTTHUMP00000214229;OTTHUMP00000214230;OTTHUMP00000214231;OTTHUMP00000214232;OTTHUMP00000214233;OTTHUMP00000214234;OTTHUMP00000214235;OTTHUMP00000214236;muscleblind-like protein 1;triplet-expansion RNA-binding protein APPROVED protein-coding ENSG00000152601 6923 07355 606516 VALIDATED 1315628 MBNL2 muscleblind-like splicing regulator 2 This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012] 13 13 13 q32.1 78721989 78893793 + 96672575 96844375 + 97874550 98046374 + 6480464 19095965;16273094;15489334;15257297;15057823;12477932;11991713;11929853;22884328;16946708;19177353;20379614;21529783;21906983;19322201;23739326;23251661 10150 A2A3S3;B4E3F7;O95205;Q5JSC0;Q5VZF2 ABBA01027163;ABBA01027164;ABBA01027165;ABBA01027166;ABBA01027167;AF061261;AF116683;AF339782;AF491866;AK291727;AK304699;AK315844;AL161430;AL442067;AMYH01005311;AY101770;BC020418;BC020430;BC032426;BC104038;BC104039;BC104040;BE246602;CA429672;CH471085;CR749802;DW415513;NM_144778;NM_207304 AAC67242;AAF71103;AAH20418;AAH32426;AAI04039;AAI04040;AAI04041;AAM09798;AAM50085;ABZ92286;BAF84416;BAF98735;BAG65469;CAH18662;EAX08968;EAX08969;EAX08970;EAX08971;NP_659002;NP_997187;Q5VZF2 Hs.657347 1335651;1660825;1693294;1736354;1760395;1761901;1771886;1771888;1789070;1856086;1856197;2113404;2118143;2123555;2124690;2134600 A005C24;D13S1179;D13S1766;D13S322;D13S863E;D13S892;G20272;G42350;G65670;RH44531;SGC34959;SGC38389;SHGC-142290;SHGC-145835;STS-H64804;WI-17498 DKFZp781H1296;MBLL;MBLL39;MGC120625;MGC120626;MGC120628;PRO2032;RP11-128N14.1 OTTHUMP00000018578;OTTHUMP00000178763;muscleblind-like 2;muscleblind-like protein 1;muscleblind-like protein 2;muscleblind-like protein-like 39 APPROVED protein-coding ENSG00000139793 16746 09543 607327 REVIEWED 1603984 MBNL3 muscleblind-like splicing regulator 3 This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009] X X X q26.2 131889747 132010400 - 131339858 131401399 - 131503342 131623996 - 6480464 18029348;19095965;17102799;15772651;15489334;15257297;14702039;12477932;12297108;11929853;10970838;16344560;21139048 55796 B1AKI2;B1AKI4;B1AKI5;B1AKI6;Q9H0Z7 AB077698;AB077699;ABBA01042225;ABBA01042226;ABBA01042227;ABBA01042228;ABBA01042229;ABBA01042230;ABBA01042231;ABBA01042232;ABBA01042233;ABBA01042234;ABBA01042235;AF467070;AF491305;AI633721;AJ427918;AJ427919;AK002178;AK300248;AK307194;AL050310;AL133625;AL161442;AMYH01022986;AMYH01022987;AW665447;AY072692;AY372211;BC042090;BC074775;BC074776;BU569439;CH471107;CR627122;DA832176;DB023330;DC380677;NG_016324;NM_001170701;NM_001170702;NM_001170703;NM_001170704;NM_018388;NM_133486 AAH42090;AAH74775;AAH74776;AAL65661;AAL87670;AAM09533;AAQ75759;ABZ92515;BAA92124;BAB85648;BAB85649;BAG62014;CAB63751;CAD20869;CAD20870;EAX11778;EAX11779;EAX11780;NP_001164172;NP_001164173;NP_001164174;NP_001164175;NP_060858;NP_597846;Q9NUK0 Hs.105134;Hs.596347 1691662;1698478;1700256;1705824;1776231;1851270;2144061;2158136;2176267;2179370;2180195;2186025 A004B40;AL032596;DXS9775;RH102788;RH103745;RH12514;RH36394;RH36548;RH69876;SGC34596;SHGC-78081;STS-H98521 CHCR;FLJ11316;FLJ97142;MBLX;MBLX39;MBXL Cys3His CCG1-required protein;OTTHUMP00000024038;OTTHUMP00000024039;OTTHUMP00000024040;OTTHUMP00000024041;OTTHUMP00000024042;OTTHUMP00000024043;OTTHUMP00000024044;muscleblind-like 3;muscleblind-like X-linked protein;muscleblind-like protein 3 APPROVED protein-coding ENSG00000076770 20564 02329 300413 REVIEWED 1348935 MBTD1 mbt domain containing 1 17 17 17 q21.33 45716030 45798621 - 46623944 46649738 - 49254786 49337427 - 1580863;6480464 15146197;12477932;21145461;19841675;17573780;19471022 54799 K7EQ11;Q05BQ5 ABBA01041259;ABBA01041260;ABBA01041261;AC005839;AC006141;AK000062;AK124061;AL133577;AMYH01008482;BC034364;BC101736;BQ022382;BU195532;CH471109;CN310792;NM_017643 AAH34364;AAI01737;BAA90919;BAC85763;EAW94560;EAW94561;EAW94562;NP_060113;Q05BQ5 Hs.656803 1647013 STS-R99923 FLJ20055;FLJ42067;MGC126785;SA49P01 MBT domain-containing protein 1;OTTHUMP00000197374 protein-coding ENSG00000011258 19866 14369 VALIDATED 1353967 MBOAT7 membrane bound O-acyltransferase domain containing 7 This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 19 19 19 q13.4 51718397 51735417 - 59368921 59385478 - 54677106 54693733 - 6480464;6907045 18772128;18094042;16344560;14702039;12477932;10941842;8702217;18931347;21900206;21903422;21987572;21139048;21890473;21963094;23000965;23251661 79143 A9C4B8;C9J4E9;F8WD95;H7C2M4;M0R1Z5;Q9BRE9 ABBA01068172;AC012314;AF211969;AK055908;AK122789;AK123290;AK293199;AK298689;AK311493;AMYH01009976;AW014416;BC002512;BC003164;BC006309;BC015857;BU633996;CH471135;CU151838;CU457734;DA338950;EU016381;NG_033045;NM_001146056;NM_001146082;NM_001146083;NM_024298;S82470 AAB37433;AAH02512;AAH03164;AAH06309;AAH15857;ABV66273;ADZ15668;BAB71043;BAG56739;BAG60849;EAW72199;EAW72200;EAW72201;EAW72202;NP_001139528;NP_001139554;NP_001139555;NP_077274;Q96N66 Hs.467279 1681985;1734664;1801578;1804768;1804770;1804950;1806122;1813092;1815738;1819246;1827888;1828238;1833370;1843274;1844090;1854894;1855201;2041560;2041562;2041564;2041566;2041568;2041570;2041572;2041574;2041576;2041578;2041580;2041582;2041584;2041586;2041588;2041590;2041592;2041594;2041596;2041598;2041600;2041602;2041604;2041606;2041608;2041610;2041612;2041614;2041616;2041618;2041620;2041622;2041624;2041626;2041628;2041630;2041632;2041634;2041636;2041638;2041640;2041642;2041644;2041646;2041648;2041650;2041652;2041654;2041656;2041658;2041660;2041662;2041664;2041666;2041668;2041670;2041672;2041674;2041676;2041678;2041680;2041682;2041684;2041686;2041688;2041690;2041692;2041694;2041696;2041698;2103656;2103658;2103660;2103662;2103664;2103666;2103668;2103670;2103672;2103674;2103676;2103678 A003B05;A008T46;D19S668E;ECD01667;ECD03317;ECD03318;ECD03415;ECD04015;ECD07565;ECD08907;ECD10690;ECD15067;ECD15244;ECD17828;ECD22845;ECD23258;REN91815;REN91816;REN91817;REN91818;REN91819;REN91820;REN91821;REN91822;REN91825;REN91826;REN91827;REN91828;REN91829;REN91830;REN91831;REN91832;REN91833;REN91834;REN91835;REN91836;REN91837;REN91838;REN91839;REN91840;REN91841;REN91842;REN91843;REN91844;REN91845;REN91846;REN91847;REN91848;REN91849;REN91850;REN91851;REN91852;REN91853;REN91854;REN91855;REN91856;REN91857;REN91858;REN91859;REN91860;REN91861;REN91862;REN91863;REN91864;REN91865;REN91866;REN91867;REN91868;REN91869;REN91870;REN91871;REN91872;REN91873;REN91874;REN91875;REN91876;REN91877;REN91878;REN91879;REN91880;REN91881;REN91882;REN91883;REN91884;REN91885;REN91886;RH93451;stSG605847;stSG605848;stSG605849;stSG605850;stSG605851;stSG605852;stSG605854;stSG605855;stSG605856;stSG605857;stSG605858;stSG605860 BB1;FLJ41296;LENG4;LPIAT;LRC4;MBOA7;OACT7;hMBOA-7 1-acylglycerophosphatidylinositol O-acyltransferase;LPLAT 7;O-acyltransferase domain-containing protein 7;OTTHUMP00000069334;OTTHUMP00000069335;OTTHUMP00000069336;OTTHUMP00000197707;bladder and breast carcinoma-overexpressed gene 1 protein;h-mboa-7;leukocyte receptor cluster (LRC) member 4;leukocyte receptor cluster member 4;lyso-PI acyltransferase;lysophosphatidylinositol acyltransferase;lysophospholipid acyltransferase 7;malignant cell expression-enhanced gene/tumor progression-enhanced;membrane-bound O-acyltransferase domain-containing protein 7 APPROVED protein-coding ENSG00000125505 15505 06925 606048 REVIEWED 1342985 MBTPS2 membrane-bound transcription factor peptidase, site 2 This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009] X X p22.12-p22.11 21767675 21810794 + 21857656 21903541 + 1580863;2317203;6480464;6907045;7240710 19933148 14702039;9659902;19361614;18660489;15772651;15299016;12477932;11850408;11795864;11163209;10805775;10419520;9847074;20854407;20672378;19689518;21315478;21426410;21963094;22931912;22816986 51360 B9ZVQ3;O43462 ABBA01072004;ABBA01072005;ABBA01072006;ABBA01072007;ABBA01072008;ABBA01072009;ABBA01072010;AF019612;AK056736;AK292933;AK307143;AK312474;AMYH01022139;AMYH01022140;AW204540;AW664372;BC036465;BX489533;CH471074;DC338559;NG_012797;NM_015884;U72788;U73479 AAC51937;AAD08631;AAD08632;BAF85622;EAW98982;NP_056968;O43462 Hs.443490 1645111;1739919;2140376;2140378;2141454;2152028;2166097;2168624;2170703;2174087;5037552 A008R38;D8S2279;DXS6998E;DXS7157;DXS7480;DXS7577;DXS7674;DXS8242;DXS8252;SGC30434;WI-17374 BRESEK;FLJ32174;IFAP;KFSDX;S2P OTTHUMP00000023046;OTTHUMP00000023047;SREBPs intramembrane protease;endopeptidase S2P;membrane-bound transcription factor protease, site 2;membrane-bound transcription factor site-2 protease;sterol regulatory element-binding proteins intramembrane protease APPROVED protein-coding ENSG00000012174 15455 02243 300294;308205;308800 REVIEWED 736262 MBP myelin basic protein The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008] 18 18 q23 72819777 72973762 - 74690789 74844774 - 1358488;1580863;1358773;1358763;6480464 1691612;7554482;10212300 19468823;20471030;19110265;19053745;19034380;19014520;18802067;18720029;18713991;18663124;18543229;18284662;18067995;17823288;17690840;17622942;17415991;17351112;17259179;17081983;16900754;16871440;16842822;16713569;16441258;16412431;16387849;16216881;16079912;15728454;15489334;15009677;14743429;14714495;14702039;14594813;14579272;12965257;12939427;12618862;12477932;12377379;12237860;12101123;11964256;11940329;11875070;11864968;11683387;11641781;11402450;11295122;11152681;11124993;11080454;10980603;10523312;10390541;10383403;10339476;9873047;9792705;9782128;9207191;2434243;7504278;19385666;19372141;19154657;9136767;9020143;8889548;8786845;8544862;7685161;7574672;7544282;6201481;6083474;5128665;4924231;4108501;4099924;2472816;2467009;2466844;2449425;2442403;2437795;2427738;2426402;2425357;2414074;2413024;1689270;11500515;9155018;17599067;20212043;9628874;8798720;7665586;10947953;10910078;15797222;8647104;11120354;15328539;22258479;10346818;12760422;15380617;19423540;19663312;19690890;19692707;19950581;20406964;20438785;20629634;16712791;20807757;21312222;15870294;19910486;22939629;22968126;12429732;23264040;21203542;21315177;21609718;21673997;21898163;19570024;15927069;22890910;21601398;22705344;8375396;8537403;21860087;22496821;22542401;10708586;17260967;22538354;8170997;8846788;23166209;14702098;15791647;23510371;12955071;14530346;15147269;16269541;17331951;17584768;17706965;17906618;19293155;19826009;21551065;21806997;22888134 4155 A8MZH3;C9J6H1;E9PJ72;E9PKX9;E9PLQ9;E9PLU9;E9PMR5;E9PNZ1;E9PQE7;E9PSE2;F5H7N4;F8WEU6;H0YEA2;H0YF02;H7BYR8;J3KS94;J3KT01;J3KT34;J3QKL5;J3QKN5;J3QL64;J3QQK6;Q6FI04 AB208986;ABBA01015291;ABBA01015292;AC018529;AC093330;AK074315;AK093588;AK094611;AK095121;AK098402;AK098513;AK122594;AK123433;AK124830;AK126858;AK128770;AK128788;AK289893;AK293922;AK314553;AMYH01009113;AMYH01009114;BC008749;BC030093;BC065248;BC068550;BC080654;BC101771;BC101773;BC130034;BC143348;BC143350;BG766942;BM977768;BU430656;CB153535;CB156561;CH471117;CQ846348;CR536534;CR541919;CR627018;CS255751;HC679210;HI574052;HI574054;HI574056;HI574058;HI574060;HI574062;L18862;L18864;L18865;L18866;L41657;M13577;M20009;M30047;M30515;M30516;M63599;N20370;NM_001025081;NM_001025090;NM_001025092;NM_001025100;NM_001025101;NM_002385;X17286 AAA59559;AAA59560;AAA59561;AAA59562;AAA59563;AAA59564;AAA72008;AAA72009;AAA72010;AAA72011;AAC41944;AAH08749;AAH65248;AAH80654;AAI01772;AAI01774;AAI43349;AAI43351;BAC85616;BAC85961;BAD92223;BAF82582;BAG53615;BAG54728;BAG54734;BAG57303;CAA35179;CAG38771;CAG46717;CAH10321;CAH10359;CAJ75954;CBL86565;CBX47515;CBX47516;CBX47517;CBX47518;CBX47519;CBX47520;EAW66592;EAW66593;EAW66594;EAW66595;EAW66596;EAW66597;EAW66598;EAW66599;EAW66600;NP_001020252;NP_001020261;NP_001020263;NP_001020271;NP_001020272;NP_002376;P02686 Hs.551713 1338181;1656005;1663966;1672314;1673610;1697726;1700308;1722415;1734564;1742147;1742397;1742407;1742939;1755293;1755733;1758739;1774056;1779058;1796306;2111202;2124478;2138456;2151701;2154214;2158026;2165586;2173358;2176382;2181282;2181407;5114746 D18S1097;D18S1220;D18S1250;D18S540E;D18S908E;D18S927E;G60281;GDB:192404;GDB:196611;GDB:196682;GDB:216766;MBP_206;RH102385;RH103774;RH68154;RH71176;SHGC-142185;SHGC-142581;SHGC-150932;SHGC-30049;SHGC-33881;SHGC-4191;SHGC-56482;SHGC-58298;SHGC-8023;SHGC-8076;SHGC-8101;STS-N24137;WI-15134;WI-15273;WI-9286 MGC99675 Golli-MBP;Golli-MBP; myelin basic protein;OTTHUMP00000163774;OTTHUMP00000163775;OTTHUMP00000163776;OTTHUMP00000174383;OTTHUMP00000174384;OTTHUMP00000174385;OTTHUMP00000174386;OTTHUMP00000174387;OTTHUMP00000174388;OTTHUMP00000174389;OTTHUMP00000174390;OTTHUMP00000233691;myelin A1 protein;myelin basic protein;myelin membrane encephalitogenic protein APPROVED protein-coding ENSG00000197971 6925 01158 159430 REVIEWED 732575 MBTPS1 membrane-bound transcription factor peptidase, site 1 The encoded protein has a central role in the regulation of lipid metabolism in cells. It is a sterol-regulated subtilisin-like serine protease that cleaves ER membrane-bound sterol regulatory element-binding proteins (SREBPs), a reaction that initiates the two-step proteolytic process by which transcriptionally active fragments of SREBPs are released from the membrane for translocation to the nucleus. The gene product is an integral membrane ER protein, with the bulk located in the ER lumen. It is synthesized as an inactive preproprotein that is self-activated by an intramolecular cleavage that generates the mature protein. [provided by RefSeq, Jul 2008] 16 16 q24 82644869 82708018 - 84087368 84150517 - 1580863;2317203;6480464;6907045 19933148 9809072;18029348;18660489;18400865;17898072;17867930;16973377;15489334;15299016;14702039;12477932;11821395;11756446;11163209;11152678;10944850;10644685;10619424;10428865;10428864;9990022;9139737;9070434;7788527;19913121;20558613;20628086;19729656;21719679;21568902;21900206;17124500;20467438;23536681;21890473;21906983 8720 H3BS61;H3BU75;H3BV53;Q14703 ABBA01016920;AC040169;AK054744;AK091212;AK291773;AK299067;AL133583;AL701753;AMYH01007867;BC026330;BC114555;BC114961;BM048055;BX472644;CH471114;D42053;NG_033017;NM_003791 AAI14556;AAI14962;BAA07653;BAF84462;BAG52308;BAG61133;CAB63727;EAW95505;EAW95506;NP_003782;Q14703 Hs.75890 1737303;1740099;1762511;1765027;1778420;1850429;2114554;2116970;2159287;2166209;5093286;5124180 A009A27;A009K43;D16S2645;D16S2940;D16S3012;G32629;RH25319;SHGC-146327;SHGC-148572;SHGC-60638;SHGC-60819;SHGC-61039 KIAA0091;MGC138711;MGC138712;PCSK8;S1P;SKI-1 OTTHUMP00000174991;endopeptidase S1P;membrane-bound transcription factor protease, site 1;membrane-bound transcription factor site-1 protease;site-1 protease;subtilisin/kexin isozyme-1;subtilisin/kexin-isozyme 1 APPROVED protein-coding ENSG00000140943 15456 04522 603355 REVIEWED 1348934 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. [provided by RefSeq, Jul 2008] 18 18 p11.2 13872043 13905535 - 13882043 13915535 - 1580863;1600745;1600747;5144213;6480464;6484138;6484558;6484136;6484693;7240710 8094489;12213892;20852827;22183812;2822467;8110467;19024088 1325670;17456795;17223989;16497811;16260430;15982783;15879363;15654338;15489334;15240582;15171714;15062562;14671214;12620396;12530626;12477932;12456795;10971458;9218248;9194567;9167964;9058374;9020063;8636348;8463333;8390157;8276410;8227361;9175632;19453261;19095219;18981183;18840636;18838498;18818285;18551113;18505908;18492762;18359160;18356748;18197087;17959886;17877367;17712720;17595257;19329486;19372376;19558534;19574343;19723618;19903795;20022931;20042918;20403506;20962024;12036966;20734064;20634197;20590821;21195128;21211532;21367968;22487832;21778684;21862608;21920850;22357529;23023242 4158 Q01718;R4GMM0 AB065915;ABBA01074043;AK289381;AK315319;AMYH01008852;AP001086;AY225229;BC069074;BC094710;BC104169;BC104170;CH471113;NG_011819;NM_000529;X65633;Y10259 AAH69074;AAH94710;AAI04170;AAI04171;AAO67714;BAC06130;BAF82070;BAG37722;CAA46587;EAX01503;NP_000520;Q01718 Hs.248144 1647423;1796308;5492553;7185383 AFMa152wg9;MC2R_927;UniSTS:481610 ACTHR;MGC125798 ACTH receptor;MC2 receptor;OTTHUMP00000162512;adrenocorticotropic hormone receptor;adrenocorticotropin receptor;corticotropin receptor APPROVED protein-coding ENSG00000185231 6930 06304 202200;607397 REVIEWED 1345990 MC3R melanocortin 3 receptor This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008] 20 20 q13.2-q13.3 54257196 54258278 + 54823788 54824871 + 1625179;1580863;1625178;5144213;6480464;6484138;6484587;7240710 17192297;11889220;20852827;22183812;16123355 8175743;8463333;19367093;19091795;19058789;18996102;18614155;18551113;18420963;18291523;18231126;18180070;17964765;17639020;17482720;17413091;17041250;16430209;16314751;15636422;15597110;15582585;15489334;15470082;15292330;15276649;12532156;12477932;12161058;12142547;12077332;12047904;11780052;11747427;11397906;11140838;9893984;9658201;9276742;9237634;9213373;9058374;8957262;8276410;7949735;22327910;12036966;19329486;19656839;19743876;20144537;20468064;20539302;15927146;18577758;17207965;20538960;20734064;20972733;21047972;21050724;20602615;20882712;21368909;21920079;21695122;22433616;22079958;21983807;23280863;23497691;22884546 4159 P41968 ABBA01052890;AL139824;AMYH01012004;AY227893;BC069105;BC069591;BC069599;BC096702;BC096737;BC098169;BC098351;CH471077;CS248086;L06155;NG_012200;NM_019888 AAC13541;AAH69105;AAH69599;AAH96702;AAH96737;AAH98169;AAH98351;AAO72726;ADQ31958;CAJ56570;EAW75566;NP_063941;P41968 Hs.248018 1340050;1741231;1796310;5493983 D20S438;GDB:178876;MC3R_1509;UniSTS:480643 BMIQ9;MC3;MC3-R;OB20;OQTL OTTHUMP00000031326;Obesity quantitative trait locus;melanocortin receptor 3 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;1643376;1643383;1643385;1643396;2289429;2289431 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H;BW305_H;BW306_H;BW311_H;BW312_H APPROVED protein-coding ENSG00000124089 6931 01115 155540;602025;607948 REVIEWED 1323826 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008] 16 16 q24.3 88512527 88514886 + 89984287 89987385 + 1600618;1600619;1580863;5144213;5687320;5687324;5687198;5687319;5687321;5687323;5687317;6480464;6484136;6484138;6484659;7240710 11030758;8894704;20852827;16543288;18304533;21052032;20126537;19889022;18757499;20357480;8110467;22183812;17434924 22561518;9571181;7581459;19493000;19484507;19452503;19340012;19339902;19320745;19269164;19208107;19194882;19077144;19017395;19016241;18983535;18946769;18839200;18803811;18795926;18761657;18717860;18711112;18683857;18657399;18637131;18636124;18510673;18483556;18402696;18368129;18292087;18282185;18222116;18094732;18079748;18067130;18006116;17960564;17960121;17952075;17916200;17616515;17570052;17496785;17487313;17397031;17371441;17317724;17316231;17279550;17222061;17130136;17072629;16988943;16982779;16914085;16877522;16864968;16809487;16721784;16645598;16601669;16567973;16463023;16420249;16417234;16081629;15998953;15994880;15993512;15979202;15972726;15957185;15889046;15726415;15650023;15582585;15489334;15482480;15470082;15358786;15305821;15221796;15210908;15159314;15105175;15009732;15009725;14757863;14702039;12950734;12930311;12883368;12876664;12859622;12851329;12839583;12817591;12753400;12663858;12653999;12620396;12579416;12477932;12473109;12453185;12439754;12244039;12204775;12177778;12165561;12006619;11933208;11750130;11720436;11710950;11707265;11689486;11532853;11511307;11500806;11500805;11499678;11487744;11487574;11454772;11442765;20374726;11305330;11254446;11179997;11041375;10942578;10885670;10816645;10462496;10101176;9861445;9665397;9640562;9302268;9058374;9017363;8990005;8706868;8605020;8463333;8458079;8188275;8125298;8098743;7949735;1516719;1325670;22464347;22622028;21097776;21197618;18484624;10233018;19264528;19329486;19338054;19558415;19571053;19571821;19578364;19585506;19656326;19679055;19710684;19743876;19755124;19790046;19924138;19932942;20043015;20189796;20301115;20378664;20129839;20519635;20876876;19737927;12036966;20539244;20720566;20797666;20831872;20970119;20585627;20588308;20629734;20670983;20721616;20802377;21071418;21084381;21378282;22336944;22863883;22547573;21700618;21199646;21541274;21570562;21602033;23165166;23548203;21128237;21749400;21862608;21890473;21906983;21931793;22464597;22512708;22978401;21898403;21737053;21983787;22158557;22325793;22364200;22447455;22493442;20301410;22095472;18029348;22572819;22961816;23000456;23522749;23096702;22505724;23224873;22572817;22512251;22965007;23489693;22804906 4157 G3V4F0;Q1JUL4;Q9UN59 AB026663;AB241540;AB241541;AB241542;AB241543;AB241544;AB241545;AB241546;AB241547;AB241548;AB241549;AB241550;AB241551;AB598378;AB598380;ABBA01014122;AC092143;AF153431;AF153432;AF153433;AF153434;AF153435;AF153436;AF153437;AF263461;AF326275;AF514787;AF529884;AK024232;AK054666;AK225902;AMYH01007941;AY046528;AY046529;AY225228;AY363619;AY363620;AY363621;AY363622;AY363623;AY363624;AY363625;AY363626;AY363627;BC007856;BC080622;BE388038;BE410897;CF528726;CH471184;NG_012026;NG_027810;NM_002386;X65634;X67594 AAD41349;AAD41350;AAD41351;AAD41352;AAD41353;AAD41354;AAD41355;AAH07856;AAH80622;AAK01121;AAK58525;AAL05887;AAL05888;AAM44861;AAO21073;AAO67713;AAQ62969;AAQ62970;AAQ62971;AAQ62972;AAQ62973;AAQ62974;AAQ62975;AAQ62976;AAQ62977;ABM84193;ABM87596;BAE94306;BAE94307;BAE94308;BAE94309;BAE94310;BAE94311;BAE94312;BAE94313;BAE94314;BAE94315;BAE94316;BAE94317;BAG51277;BAG51408;BAK20450;BAK20452;CAA46588;CAA47865;EAW66676;NP_002377;Q01726 Hs.513829 1677114;1779186;1790381 M73K;RH92296;SHGC-61142 CMM5;MGC14337;MSH-R;SHEP2 MC1-R;OTTHUMP00000245286;melanocortin receptor 1;melanocyte-stimulating hormone receptor;melanotropin receptor APPROVED protein-coding ENSG00000258839 6929 01118 155555;203200;266300;613098;613099 REVIEWED 733058 MC4R melanocortin 4 receptor The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010] 18 18 q22 56189544 56190981 - 58038564 58040001 - 1600752;1600756;1580863;1600755;1331525;1600750;1357925;1626222;5144213;6480464;6484233;6484144;6484214;6484138;6484557;6484229;6484113;6478803;7240710 12646666;12646665;11443223;15118671;12588803;15189116;9392003;20852827;20081244;9019399;21343543;22183812;21985621;20371568;21527895 16279363;16278267;16231025;16114870;16083993;16081629;16032553;16030156;15951321;15865442;15821099;15805150;15597110;15585384;15533382;15489963;15489334;15486053;15470082;15466016;15448103;15292469;15215606;15126516;15037865;14973783;14764818;14764812;14671178;14633862;14531729;14523020;14504270;8794897;9771698;16614075;18029348;8392067;10585465;19629057;19557197;19491387;19470880;19367093;19303903;19301229;19284607;19283510;19265794;19255736;19244934;19207921;19184404;19164386;19153581;19151714;19092146;19091795;19079261;19079260;19077438;19073769;19058789;19050674;19016587;19011902;18997677;18996102;18992263;18974267;18835933;18809499;18801902;18779298;18777518;18697794;18682847;18559663;18551113;18461507;18454148;18454146;18377640;18239646;17986382;17941900;17822895;17713970;17590021;17587397;17579204;17545153;17519222;17517245;17492953;17482720;17445027;17418015;17376547;17356525;17322114;17286227;17185898;17041250;16886960;16820227;16710097;16611215;16507637;16459314;16344560;12499395;12477932;12364415;12244039;12165561;12140789;12045190;12032748;12015205;11912210;11823452;11747427;11692184;11487744;11101306;10318826;10199800;9771699;9763669;9058374;7949735;7854347;13678297;12970296;12959994;12815165;12732337;12690102;12639913;12629567;12620396;20374728;22327910;17668051;19214805;19329486;19463742;19680233;19692490;19696756;19741604;19743876;19746409;19794065;19803416;19812171;19844209;19851340;19880856;19889825;19906786;20007308;20070976;20092643;20147580;20161779;20181787;20214954;20215397;20215774;20220015;20386550;20397748;20400458;20406574;20421936;20468064;20520848;20530052;20935630;12036966;15927146;19737927;19668254;20600126;20696697;21047921;20538960;20712903;20724581;20725061;20734064;20816152;20816195;20843981;20957447;20966902;20966905;20975296;21046283;21063808;21085626;20631012;19913121;20571754;20580033;20616199;20628086;20682687;20703240;20733583;21207518;21283731;21303735;21544599;21094029;21976721;21625854;21211532;21736789;21729752;19298524;21719532;21404042;23146882;23159449;23185251;21921652;21935397;21818152;22020349;22106157;21222259;22544740;22822657;23201545;21347432;20686565;21720444;22013104;22344221;21738238;22350153;22466342;22492873;22605619;21750520;22566560;20881960;23049848;22463805;22688572;23211571;23251400;22989167;21822216;21988832;23088915;23054017;23263486;23277235;23014838;23014839;22724641;22447289;23284998;23130628;22869321 4160 P32245 ABBA01056177;AC091576;AK314130;AMYH01009040;AY236539;BC069172;BC101802;BC111992;CH471096;DA362673;L08603;NG_016441;NM_005912;S77415 AAA35791;AAB33341;AAH69172;AAI01803;AAI11993;AAO92061;BAG36820;EAW63105;NP_005903;P32245 Hs.532833 1743953;1790315;1794070;1794072;1794454;1794456;1794458;1794460;1794462;1794470;2106543;2170651;5492615;5492927 GDB:378002;MC4R;MC4R_4126;PMC310777P6;PMC310777P7;PMC314306P1;PMC314306P2;PMC314306P3;PMC314306P4;PMC314306P5;PMC314308P1;RH70223;UniSTS:481806;UniSTS:483261 MGC126851;MGC138197 MC4-R;OTTHUMP00000163654;melanocortin receptor 4 1643312;1643553;1643573;1643583;2289640 ACTIV1_H;ACTIV2_H;BW246_H;BW510_H;FOCO1_H APPROVED protein-coding ENSG00000166603 6932 01116 155541;601665 REVIEWED 732421 MC5R melanocortin 5 receptor This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010] 18 18 p11.2 13815765 13816742 + 13825543 13826861 + 1580863;1626222;1626223;5144213;6480464;6484138 9392003;9512481;20852827;22183812 17482720;7739752;19502010;18551113;16314755;15489334;15470082;12477932;11606131;11286624;9892020;9240466;9058374;8932521;8396929;8185570;7956366;12036966;19329486;19428994;20468064;19913121;20628086;21602033;22871966 4161 K7ER30;P33032 ABBA01074042;AMYH01008852;AP001525;AY268429;BC069153;BC069545;BC095531;CH471113;EF444993;L27080;NM_005913;U08353;Z25470 AAA59566;AAB60376;AAH69153;AAH69545;AAH95531;AAP23196;ACA06012;CAA80962;EAX01504;NP_005904;P33032 Hs.248145 1684000;2191621;5492115;5492517 MARC_28657-28658:1062515202:1;MC5R;RH71364;UniSTS:481427 MC2 OTTHUMP00000162511;melanocortin receptor 5;melanocortin-5 receptor 1643084;2316326 BW114_H;GLUCO230_H APPROVED protein-coding ENSG00000176136 6933 08965 600042 REVIEWED 6482155 MCCD1P1 mitochondrial coiled-coil domain 1 pseudogene 1 6 p22.1-p21.33 29875560 29876422 - 100048903 ABBA01038039;AL645935;AL845454;AL928614;AMYH01016204;BX284699;BX927141;CR388220;CR759913;CT009517;NG_032195 pseudo 33449 INFERRED 6483488 MCCD1P2 mitochondrial coiled-coil domain 1 pseudogene 2 6 p21.33 29962919 29963091 - 100048924 ABBA01038041;AL645935;AL671277;AL845454;AMYH01016204;BX005091;BX927229;CR388205;CR759763;CR759943;NG_032719 BPG309N1.16 pseudo 33462 INFERRED 1342844 MCDR1 macular dystrophy, retinal, 1 (North Carolina type) 7240710 4167 6939 1345546 MCDR2 macular dystrophy, retinal 2 7240710 317667 18438 603786;608051;612095;612657 1348819 MCDR3 macular dystrophy, retinal 3 7240710 317668 20206 1607045 MCAT malonyl CoA:ACP acyltransferase (mitochondrial) The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012] 22 22 22 q13.31 27438586 27449778 - 41858156 41869347 - 43528212 43539403 - 6480464;6907045 12882974;16806233;16434556;16344560;15489334;12529303;12477932;10591208;20564319;19767753;20877624;17000644;22939629;20186120;18781797 27349 B0QY72;Q8IVS2 AA402283;ABBA01017908;AI811069;AK314059;AL022237;AL359401;AL359403;AMYH01012826;BC030985;BC042195;BI464466;BX111669;CA422238;CH471138;DB306307;NM_014507;NM_173467;NR_046423 AAH30985;AAH42195;BAG36765;CAA18261;CAB94789;CAB94790;CAQ07851;EAW73286;EAW73287;NP_055322;NP_775738;Q8IVS2 Hs.349111 1338422;1752703;2109535;2127706;2150679 D22S1151;MT_9553;SHGC-106512;STS-AA022736;WI-17858 FASN2C;MCT;MGC47838;MT;NET62;fabD OTTHUMP00000198291;OTTHUMP00000198292;[Acyl-carrier-protein] malonyltransferase;malonyl-CoA-acyl carrier protein transacylase, mitochondrial;malonyl-CoA:acyl carrier protein transacylase, mitochondrial;mitochondrial malonyl CoA:ACP acyltransferase;mitochondrial malonyltransferase APPROVED protein-coding 29622 14786 614479 REVIEWED 732868 MCAM melanoma cell adhesion molecule 11 11 q23.3 118684444 118693050 - 119179234 119187840 - 1580863;6480464 8292890;11329371;8378324;18029348;19229070;19221091;19200179;19123925;19034879;19029148;18922915;18834073;18604730;18175063;18160586;17982057;17872908;17786470;17545460;17490776;17320204;17081983;16969099;16835268;16804906;16570276;16541130;16204154;16098047;15897668;15610525;15489334;14702039;14597988;14534536;12771231;12496470;12477932;12406332;11848444;11722842;11709656;11536311;11036077;10756096;10726166;10702685;10687524;10451481;10211875;9756930;9730695;9462829;9036955;8573133;8162602;2602381;15231748;19703903;19782948;20127798;20589320;20448216;20657552;21095067;21334670;22939629;22975388;23412095;20067117;21239604;21467165;21415267;21450088;22399604;22610942;23256918;21804459;22057013;21959269;22051146;21139048;21906983;21987572;22635231;22088599;22076922;21725352;22311021;22826148;23389031;21963094;23000965;23223580;23266426;22718841;22952755 4162 P43121 AB209925;ABBA01039674;AF089868;AJ297452;AK126303;AK128335;AK291571;AK312430;AMYH01004081;AP002956;AU076908;BC056418;CH471065;JA738581;M28882;M29277;NM_006500;X68264;X68271 AAA20824;AAA20922;AAD17799;AAH56418;ACE87805;ACT64464;BAC86520;BAD93162;BAF84260;BAG35339;BAG54661;CAA48332;CAB97348;CCF76943;EAW67477;EAW67478;NP_006491;P43121 Hs.599039 1665265;2115084;2129326;2134013;5021347;5121142;5123718;5123720 A002O48;G15959;G15978;MARC_15973-15974:1016732079:3;RH47288;RH78313;SGC35254;STS-M29277 CD146;MUC18 Gicerin;OTTHUMP00000232151;S-endo 1 endothelial-associated antigen;cell surface glycoprotein MUC18;cell surface glycoprotein P1H12;l-gicerin;melanoma adhesion molecule;melanoma-associated antigen A32;melanoma-associated antigen MUC18 protein-coding ENSG00000076706 6934 01120 155735 VALIDATED 1345996 MCF2 MCF.2 cell line derived transforming sequence The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010] X X q27 138491596 138618047 - 138663930 138790381 - 1580863;6480464 18470881;3056717;3281159;18728402;17606614;17538024;16344560;15772651;13679059;12445822;12376551;11907027;11134331;11062019;10925207;10854437;10652228;10518015;8276860;3491366;2613238;2577874;2065022;1611909;11756498;12376548;12787561;17178836;20479760;19373475;21712385;21963094;22984590 4168 B2R9S6;H0Y662;Q5JYJ3;Q5JYJ5;Q5JYJ7 AB085901;AB085902;ABBA01066049;ABBA01066050;ABBA01066051;ABBA01066052;ABBA01066053;ABBA01066054;ABBA01066055;ABBA01066056;ABBA01066057;ABBA01066058;ABBA01066059;AK296488;AK296529;AK302957;AK313900;AK316416;AL033403;AL117234;AL161777;AMYH01023058;AMYH01023059;CH471150;DA326503;DA391685;DA723464;DC298193;J03639;NG_016439;NM_001099855;NM_001171876;NM_001171877;NM_001171878;NM_001171879;NM_005369;X12556;X13230 AAA52172;AAI60052;BAC41200;BAC41201;BAG36623;BAH12371;BAH12378;BAH13855;BAH14787;CAA31069;CAA31617;CAB55301;EAW88426;EAW88427;EAW88428;EAW88429;EAW88430;NP_001093325;NP_001165347;NP_001165348;NP_001165349;NP_001165350;NP_005360;P10911 Hs.387262 1674374;1675152;1691554;1691654;1702396;2107333;2133177 AL032592;AL032612;DXS9752;MCF2__7384;STS-X12556;UniSTS:99307;WI-14785 ARHGEF21;DBL OTTHUMP00000024155;OTTHUMP00000024156;OTTHUMP00000024157;OTTHUMP00000024158;OTTHUMP00000024159;OTTHUMP00000226076;Oncogene MCF2 (oncogene DBL);proto-oncogene DBL;proto-oncogene MCF-2 APPROVED protein-coding ENSG00000101977 6940 02406 311030 REVIEWED 1352481 MCCD1 mitochondrial coiled-coil domain 1 6 6 6 p21.33 33094977 33096246 + 31604718 31605987 + 31496739 31498008 + 19115949;14574404;14527716;12477932;19851445;20379614;20854863 401250 P59942 ABBA01038080;AL662801;AL662847;AL663061;AMYH01016217;BC132994;BC132996;BN000141;BX001040;BX248516;BX682535;BX927320;CR753820;CR753864;CT009531;NM_001011700 AAI32995;AAI32997;CAD71139;NP_001011700;P59942 Hs.558922 1689300;1706756 RH1521;SHGC-80845 OTTHUMP00000165898;mitochondrial coiled-coil domain protein 1 protein-coding 20668 17470 609624 VALIDATED 1351997 MCC mutated in colorectal cancers This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q21 112385695 112852426 - 112357796 112824527 - 1300441;1580863;6480464 1848370 14743216;17353931;19555689;18591935;16381901;15489336;15489334;14702039;12477932;11230166;11076863;8889548;8626604;8012355;1846539;1651563;1315124;20889312;21326311;19851296;20198315;20379614;11173969;21832049;18029348;21279955;20360068;21900206;22213290;22480440;22542170 4163 D6REY2;P23508 ABBA01069045;ABBA01069046;ABBA01069047;ABBA01069048;AC008536;AC010431;AC079465;AC093208;AC106750;AC126917;AK096212;AK128596;AK300259;AL359558;AMYH01015549;AMYH01015550;BC009279;BC018919;BC043431;BX537952;BX647710;CF887436;CH471086;CR749713;M62397;NG_012265;NM_001085377;NM_002387 AAA52069;AAH09279;AAH18919;ACE86745;ACE87431;BAC87521;BAG53232;BAH13246;CAD97919;CAL38488;EAW48984;EAW48985;EAW48986;EAW48987;NP_001078846;NP_002378;P23508 Hs.593171 1338667;1341408;1653560;1655923;1661738;1675874;1710220;1711286;1722935;1724753;1726297;1732171;1735480;1737953;1740367;1741541;1741889;1742435;1750405;1751391;1755571;1780904;1785246;1785374;1846947;2107331;2112172;2115685;2127039;2134267;2161073;2177215;5022576;7186613 AFMB359YB5;D11S3562;D1S1361;D5S1170;D5S1600E;D5S2001;D5S2194E;D5S2770;D5S585;D5S656;G16907;G60565;G62449;GDB:181466;GDB:186555;GDB:196992;L28379;MCC__7383;RH122583;RH69379;RH94304;SHGC-102579;SHGC-105238;SHGC-112582;SHGC-12754;SHGC-141190;SHGC-142425;SHGC-83739;SHGC-89294;STS-M62397;STS-N27832;WI-18946;bac53226S DKFZp762O1615;FLJ38893;FLJ46755;MCC1 OTTHUMP00000159017;OTTHUMP00000222860;OTTHUMP00000222861;OTTHUMP00000223206;colorectal mutant cancer protein APPROVED protein-coding ENSG00000171444 6935 01157 159350 REVIEWED 1321620 MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] 3 3 q27 184215700 184300059 - 182733006 182817365 - 1580863;6480464;6907045;7240710 1517917;11401427;11170888;17968484;16023992;16010683;15489334;14702039;12477932;11406611;11181649;22264772;22189597;21738487;18029348;19339287;19706617;20379614;20877624;21292315;22939629;21071250;17360195;21642987;21139048;22150417;20301313;21145461 56922 E9PG35;E9PHF7;F2Z2Z7;F2Z3E2;F5GYT8;F8WDI3;F8WF46;G5E9X5;Q96RQ3 AB029826;AB209737;ABBA01058485;ABBA01058486;ABBA01058487;AC104641;AC108741;AF297332;AF310339;AF310972;AK023051;AK098411;AK294882;AK295293;AK316428;AL442091;AL532496;AMYH01013704;BC004187;BC004214;BC036395;BC042453;BF795651;CH471052;CR749608;NG_008100;NM_020166 AAG50245;AAG53095;AAH04187;AAH04214;AAK67986;BAA99407;BAB14377;BAD92974;BAG57977;BAG58277;BAH14799;CAH18403;EAW78339;EAW78340;NP_064551;Q96RQ3 Hs.47649 1690179;1714807;1793180;2147188;2167715;5022450 D10S275;PMC199271P1;RH120070;RH36308;RH99319;SHGC-57632 DKFZp686B20267;FLJ25545;MCC-B;MCCA 3-methylcrotonyl-CoA carboxylase 1;3-methylcrotonyl-CoA carboxylase biotin-containing subunit;3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha;MCCase subunit alpha;OTTHUMP00000212827;OTTHUMP00000212828;OTTHUMP00000212829;OTTHUMP00000212832;methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial;methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) APPROVED protein-coding ENSG00000078070 6936 01951 210200;609010 REVIEWED 1346657 MCFD2P1 multiple coagulation factor deficiency 2 pseudogene 1 6 6 6 p22.1 28981497 28983465 + 27483470 27483754 + 27375502 27377470 + 645927 ABBA01037994;AL031118;AMYH01016188;NG_009330 C6orf44;MCFD2L;NUCB2-L;dJ153G14.2 APPROVED pseudo 21582 INFERRED 1352586 MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008] 5 5 5 q12-q13 66778848 66850229 + 70918910 70988981 + 70883115 70954531 + 1580863;2316864;6480464;6907045;7240710 11170888 11181649;17968484;17876819;16023992;16010683;15489334;15146197;14702039;12477932;11406611;11401427;19851296;20198315;20877624;22264772;20811636;22939629;21071250;20186120;18457437;17360195;21642987;21139048;21906983;22150417;20301313;21145461;19380743 64087 D6R9R1;D6RD67;D6RDF7;Q9HCC0 AB050049;AB050050;ABBA01061895;ABBA01061896;ABBA01061897;AC138832;AC143336;AF261884;AF301000;AF310971;AK025591;AK090834;AK310194;AL079298;AMYH01015401;BC014897;BC065027;CH471084;CN309723;NG_008882;NM_022132 AAG53094;AAH14897;AAH65027;AAK16404;AAK49409;BAB16880;BAB41121;BAG52236;CAB45194;EAW95691;EAW95692;EAW95693;NP_071415;Q9HCC0 Hs.604789 1682684;1693572;1725469;1740375;1774239;2142300;5022651;5094969 D11S2921;D5S2198E;G09869;MCCC2;RH119130;RH93252;SHGC-34463;SHGC-58479 MCCB 3-methylcrotonyl-CoA carboxylase 2;3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit;3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta;MCCase subunit beta;OTTHUMP00000222178;OTTHUMP00000222180;biotin carboxylase;methylcrotonoyl-CoA carboxylase beta chain, mitochondrial;methylcrotonoyl-Coenzyme A carboxylase 2 (beta);non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase APPROVED protein-coding ENSG00000131844 6937 01952 210210;609014 REVIEWED 1320595 MCEE methylmalonyl CoA epimerase The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71187499 71208089 - 71190327 71210867 - 71336806 71357394 - 6480464;6907045;7240710 11481338;17823972;16843692;16752391;16697227;15489334;12477932;20877624;21832049;20301409 84693 F5GZ54;H7BZS7;Q96PE7 AB209469;ABBA01075549;AC007881;AF364547;AI033764;AMYH01010427;BC020825;BM271757;CH471053;NG_008977;NM_032601 AAH20825;AAK52052;AAY14749;ABM82301;ABM85479;BAD92706;EAW99778;NP_115990;Q96PE7 Hs.94949 1767936;5015961;5016478;5020740;5022578;5024761;5037552 D15S1477;D1S1423;D8S2279;GDB:434012;L17809;RH36905;RH45964 GLOD2 DL-methylmalonyl-CoA racemase;OTTHUMP00000160122;glyoxalase domain containing 2;methylmalonyl-CoA epimerase, mitochondrial APPROVED protein-coding ENSG00000124370 16732 12229 251120;608419 REVIEWED 7248214 MCHR2-AS1 MCHR2 antisense RNA 1 728012 ABBA01014471;ABBA01014472;AI635357;AL590725;AL590732;AL603909;AMYH01016541;BU154553;BU853836;BX097456;DB461069;NR_038384 Hs.434366 miscrna ENSG00000229315 48980 VALIDATED 6771255 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein 5 q11.2 54515425 54523143 - 21543332;22231168 345643 D6RGH6;I6L8E2 ABBA01015739;AC091977;AMYH01015089;FR854393;NM_001190787 CCA89438;D6RGH6;NP_001177716 Hs.394578 IDAS;MCI;MCIN multiciliate cell differentiation 1;multiciliate differentiation and DNA synthesis-associated cell cycle protein;multicilin;protein Idas APPROVED protein-coding ENSG00000234602 40050 614086 VALIDATED 1347319 MCKD1 medullary cystic kidney disease 1 (autosomal dominant) 7240710 9536096 4169 1337416;1339714;1340021 D1S1595;D1S2125;D1S498 6941 174000 1343881 MCKD2 medullary cystic kidney disease 2 (autosomal dominant) 7240710 10330352 10122 6942 162000;603860;609886 5130620 MCF2L-AS1 MCF2L antisense RNA 1 13 13 q34 94446351 94447505 - 113621798 113622952 - 11181995;12477932 100289410 ABBA01019855;AL356740;AMYH01005392;BC004179;BC064982;BC080517;BQ012856;CH471085;NR_034002 EAX09173;EAX09174 Hs.667436 1800662;1802310;1809504;1827346;1829252;1894128;1894130;1894132;1894134;1894136;1894138;1894140;1894142;1894144;1894146;1894148;1894150;1894152;1894154;2202326;5121855;5121857 ECD01192;ECD02039;ECD05744;ECD14788;ECD15755;REN17818;REN17819;REN17820;REN17821;REN17822;REN17823;REN17824;REN17825;REN17826;REN17827;REN17828;REN17829;REN17830;REN17831;REN17832;REN17833;stSG621865 APPROVED miscrna 39825 VALIDATED 1352917 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 3 3 3 q27.1 181330990 181581485 - 184378525 184628549 - 182895831 183145855 - 1580863;6480464 18259684;12477932;12421765;10048485;20667095;19648752;20379614;19343720 23101 C9J326;Q86YR7 AB020668;ABBA01058480;ABBA01058481;ABBA01058482;ABBA01058483;ABBA01058484;ABBA01058485;AC069417;AC092960;AC104641;AC112647;AK124500;AK301698;AK310962;AMYH01013705;AMYH01013706;AMYH01013707;AY172737;BC029074;BC064632;BM920156;BX647790;BX648525;BX649003;CH471052;NM_015078 AAH29074;AAH64632;AAO19651;BAA74884;BAC85866;BAG63170;EAW78329;EAW78330;EAW78331;EAW78332;NP_055893;Q86YR7 Hs.208267 1654658;1664271;1686630;1704270;1784706;5014051;5022578;5022651;5024039;5037552;5112017;5118624 D11S2921;D11S3492;D16S325;D1S1423;D8S2278;D8S2279;G44365;RH98948;SHGC-149665;SHGC-34179;SHGC-83272;WI-13813 ARHGEF22;DKFZp686H2395;DKFZp686K0690;FLJ42509;KIAA0861 MCF2-transforming sequence-like protein 2;OTTHUMP00000212872;OTTHUMP00000212875;Rho family guanine-nucleotide exchange factor;dbs-related Rho family guanine nucleotide exchange factor;probable guanine nucleotide exchange factor MCF2L2 protein-coding ENSG00000053524 30319 08308 VALIDATED 737008 MCF2L MCF.2 cell line derived transforming sequence-like 13 13 q34 112704069 112792498 + 113623535 113754053 + 1580863;6480464 12147231;17903294;17562712;16344560;15531584;15157669;14702039;14701795;12477932;12376551;22615457;12006984;11889037;9205841;7957046;11756498;12376548;12787561;18029348;19911011;20379614;15790807;21871595;21900206;21890473;23381943;10518015 23263 A2A3G7;A2A3H1;A2A639;A2A640;B7ZBR9;F8WBK7;G5E9A1;H0Y4M6;H0Y519;H0Y7A3;H3BLT1;H7BYP9;H7C275;H7C2S1;J3KPD4;M0R1J7;M0R393;Q5JU56 AB002360;AB116074;AB116075;ABBA01019855;ABBA01019856;ABBA01019857;ABBA01019858;ABBA01019859;AF086413;AK022184;AK057899;AK092739;AK094768;AK123267;AK295047;AK295670;AK307867;AK315969;AL137002;AL162454;AL356740;AL596093;AMYH01005392;AMYH01005393;AMYH01005394;AW241629;BC011853;BC020208;BC107066;BC107067;BX648279;CH471085;CR988747;DA114166;DA313448;DA769805;DB476653;NM_001112732;NM_024979 AAH11853;AAH20208;AAI07067;AAI07068;ABM82967;ABM86159;BAA20817;BAB71611;BAD08351;BAD08352;BAG52925;BAG58097;BAG58528;BAH14340;EAX09175;EAX09176;EAX09177;EAX09178;EAX09179;EAX09180;NP_001106203;NP_079255;O15068 Hs.170422 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56;REN18257;REN18258;REN18259;REN18260;REN18261;REN18262;REN18263;REN18264;REN18265;REN18266;REN18267;REN18268;REN18269;REN18270;REN18271;REN18272;REN18273;REN18274;REN18275;REN18276;REN18277;REN18278;REN18279;REN18280;REN18281;REN18282;REN18283;REN18286;REN18287;REN18288;REN18289;REN18290;REN18291;REN18292;REN18294;REN18295;REN18296;REN18297;REN18298;REN18299;REN18301;REN18302;REN18303;REN18304;REN18305;REN18306;REN18307;REN18308;REN18309;REN18310;REN18311;REN18312;REN18313;REN18314;REN18315;REN18316;REN18317;REN18318;REN18319;REN18320;REN18321;REN18322;REN18323;REN18324;REN18325;REN18326;REN18327;REN18328;REN18329;REN18330;REN18331;REN18332;REN18333;REN18335;REN18336;REN18337;REN18338;REN18339;REN18340;REN18341;REN18342;REN18343;REN18344;REN18345;REN18346;REN18347;REN18348;REN18349;REN18350;REN18351;REN18352;REN18353;REN18354;REN18355;REN18356;REN18357;REN18358;REN18359;REN18360;REN18361;REN18362;REN18363;REN18364;REN18365;REN18366;REN18367;REN18368;REN18369;REN18370;REN18371;REN18372;REN18373;REN18374;REN18375;REN18376;REN18377;REN18378;REN18379;REN18380;REN18381;RH15721;RH66033;SHGC-110956;SHGC-146516;WI-15501;stSG621866;stSG621867;stSG621868;stSG621869;stSG621870;stSG621871;stSG621872;stSG621873;stSG621874;stSG621875;stSG621876;stSG621877;stSG621878;stSG621879;stSG621880;stSG621881;stSG621882;stSG621883;stSG621884;stSG621885;stSG621886;stSG621887;stSG621888;stSG621889;stSG621890;stSG621891;stSG621892;stSG621893;stSG621894;stSG621895;stSG621896;stSG621897;stSG621898;stSG621901;stSG621902;stSG621903;stSG621904;stSG621905;stSG621906;stSG621907;stSG621909;stSG621912;stSG621913;stSG621914;stSG621915;stSG621918;stSG621919;stSG621920;stSG621921;stSG621922;stSG621923;stSG621924;stSG621925;stSG621926;stSG621927;stSG621928;stSG621929;stSG621931;stSG621932;stSG621933;stSG621934;stSG621937;stSG621941;stSG621942;stSG621947;stSG621948;stSG621950;stSG621951;stSG621952;stSG621954;stSG621955;stSG621956;stSG621957;stSG621958;stSG621959;stSG621962;stSG621963;stSG621964;stSG621965;stSG621967 ARHGEF14;DBS;FLJ12122;KIAA0362;OST DBL's big sister;MCF2 transforming sequence-like protein;MCF2-transforming sequence-like protein;OTTHUMP00000018740;OTTHUMP00000018741;OTTHUMP00000018742;OTTHUMP00000081739;OTTHUMP00000202677;guanine nucleotide exchange factor DBS protein-coding ENSG00000126217 14576 14371 609499 VALIDATED 733421 MCHR1 melanin-concentrating hormone receptor 1 The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008] 22 22 q13.2 39405128 39408764 + 41075182 41078818 + 1624359;1580863;1624360;704404;6480464 16186414;15363890 10860944;10421367;19058789;18722347;18198296;16741940;16039987;15941924;15928315;15590649;15489334;15461802;15340116;15166293;14632194;12865333;12620396;12477932;12220661;12176038;12127971;11839762;11478907;10591208;10441476;10421368;8977118;12208518;11416225;19320743;19453261;19502010;20633139;16754659;18577758;20833795;20888736;20734064;21637341;22154049;22081064 2847 A6ZJ87;Q99705 AB063174;ABBA01055608;AF490537;AI934819;AK314857;AMYH01012793;AY562945;AY745811;AY747629;BC001736;BC021146;BT006725;CH471095;CR456497;NG_029686;NM_005297;U71092;Z86090 AAC14587;AAH01736;AAH21146;AAO14670;AAP35371;AAS72373;AAV98052;AAV98053;ABM84529;ABM85991;BAB60890;BAG37373;CAG30383;CAK54525;CAK54824;EAW60387;EAW60388;NP_005288;Q99705 Hs.248122 1647694;1679748;1699474;1740081;1795940 D22S1131;GPR24_1570;RH103329;RH80848;WI-22361 GPR24;MCH-1R;MCH1R;MGC32129;SLC-1;SLC1 G protein-coupled receptor 24;G-protein coupled receptor 24;MCH receptor 1;MCH-1R;MCH-R1;MCHR;MCHR-1;OTTHUMP00000196796;SLC-1;melanin-concentrating hormone receptor 1;somatostatin receptor-like protein APPROVED protein-coding ENSG00000128285 4479 11874 601751 REVIEWED 1350244 MCFD2 multiple coagulation factor deficiency 2 This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] 2 2 p21 46982517 46996453 - 47129009 47168994 - 6480464;7240710 2463956;18685427;18590741;18391077;18056485;17785371;17610559;17010120;16044454;15886209;15815621;15489334;15292203;14702039;12832409;12717434;12477932;10090935;10090934;16344560;19787799;20004600;20007547;20138881;20339536;21832049;22939629;21890473;22535353;22337587;22764119 90411 B4DF17;C9JTR4;H7BZ18;Q8NI22 ABBA01075146;ABBA01075147;AC016722;AC093732;AF475284;AF537214;AI079820;AI371370;AK095006;AK292127;AK293889;AL833900;AMYH01010319;AMYH01010320;BC037845;BC040357;BI553070;CF994192;CH471053;CR749562;CS208035;DA194356;DA226366;DA324623;DA330030;DA404031;DA412975;DB096245;DC321899;DC332658;HB867220;M23161;NG_016428;NM_001171506;NM_001171507;NM_001171508;NM_001171509;NM_001171510;NM_001171511;NM_139279 AAH37845;AAH40357;AAM28465;AAP23162;AAY15013;ABM82030;ABM85211;BAF84816;BAG57278;CAD38756;CAH18359;CAJ44943;CBF57596;EAX00230;EAX00231;EAX00232;EAX00233;NP_001164977;NP_001164978;NP_001164979;NP_001164980;NP_001164981;NP_001164982;NP_644808;Q8NI22 Hs.662152 1690476;1703998;1772810;1772812;5109549 A005Q18;D21S1698;G20415;RH92899;SHGC-77786 DKFZp686G21263;F5F8D;F5F8D2;LMAN1IP;SDNSF OTTHUMP00000203114;OTTHUMP00000203115;OTTHUMP00000203116;OTTHUMP00000203117;OTTHUMP00000203118;OTTHUMP00000203119;OTTHUMP00000203120;OTTHUMP00000203121;multiple coagulation factor deficiency protein 2;neural stem cell derived neuronal survival protein;neural stem cell-derived neuronal survival protein APPROVED protein-coding ENSG00000180398 18451 09693 607788;613625 REVIEWED 1347761 MCHR2 melanin-concentrating hormone receptor 2 6 6 q16 100474507 100548835 - 100367786 100442114 - 1580863;6480464 17698913;15941924;15489334;15340116;15229878;14702039;14574404;12620396;12477932;12127971;11839762;11478907;11459838;11416225;11404457;11355873;11274220;16754659;21102462;19502010;19683862;19927306;20099459;22123324 84539 Q969V1 AB058849;AB060151;ABBA01014472;ABBA01014473;AF347063;AF399937;AK123634;AL590725;AMYH01016541;AY029596;AY562946;BC038441;BC095515;CH471051;NM_001040179;NM_032503 AAH95515;AAK32193;AAK38157;AAL05528;AAS72374;BAB55677;BAB87842;BAG53926;EAW48459;EAW48460;NP_001035269;NP_115892;Q969V1 Hs.591342 1794706;1794708 PMC34708P1;PMC34708P2 GPR145;GPRv17;MCH-2R;MCH-R2;MCH2;MCH2R;MCHR-2;SLT G protein-coupled receptor slt;G-protein coupled receptor 145;MCH receptor 2;OTTHUMP00000016901;melanin-concentrating hormone 2;melanin-concentrating hormone receptor 2 2289234;2289252 BW141_H;BW142_H protein-coding ENSG00000152034 20867 12088 606111 VALIDATED 735512 MCL1 myeloid cell leukemia sequence 1 (BCL2-related) This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010] 1 1 q21 148813658 148818760 - 150547027 150552214 - 70678;2313975;6480464;6484113 9356461;17322918 19099185;18292181;15753661;15262975;10837489;9184696;7896880;19616548;19523441;19503096;19484260;19401626;19372583;19288493;19285955;19148187;19092849;19077158;19051025;19037233;19012245;19008456;18769617;18768389;18757878;18676833;18676738;18647593;18609706;18599795;18552129;18543107;18495871;18483275;18452656;18415656;18234961;18178565;18089567;18046444;18032706;18025305;18006817;17942758;17928528;17927446;17893147;17823113;17805325;17698840;17634558;17599053;17561513;17553788;17545167;17525735;17498302;17495975;17463001;17387146;17384650;17227835;17200126;18208354;17145774;17072336;17009247;16978419;16969094;16901898;16822835;16782027;16761109;16725198;16710414;16543145;16538501;16478725;16456709;16380381;16339575;16327976;16289418;16229017;16213503;16109713;16091744;16027162;16007132;15989957;15940637;15902294;15901672;15842635;15728130;15713684;15694340;15637055;15626746;15613543;15611089;15588513;15550399;15489334;15378010;15370246;21406400;22152474;22361683;22552282;22796578;22496479;19968719;15241487;15217829;15126604;15122313;15078892;15077116;15014070;14982947;14633975;12960271;12915532;12901848;12855556;12787138;12783855;12782407;12660820;12637318;12496428;12477932;12475993;12445202;12359245;12223490;12176902;12149273;12070027;12057933;11911971;11877256;11781193;11598139;11546872;11483855;11130466;10978339;10965038;10766760;10634649;10579309;9671497;8790944;7835896;7682708;17670986;9731710;10198631;15451437;15721256;19949310;20526282;20503275;21247487;21258408;22873792;22994781;16697956;18029348;18088462;19369967;19481066;19581935;19582795;19587033;19605477;19634140;19654003;19676043;19683529;19684859;19734538;19737931;19748896;19773546;19782681;19808698;19838163;19841168;19887550;19933775;19942343;19955184;19965632;19966861;19968497;19968986;20004446;20023629;20051518;20066663;20066738;20085644;20156337;20173022;20189983;20197552;20308427;19571464;21036904;20038816;20392693;20501829;20647761;20693279;20802294;20571074;19763916;19913121;20628086;20677014;21139567;21393866;21220745;21228225;21138867;21151390;21504623;21132008;21148306;21368833;23024798;22548841;23059828;22268450;22934750;21292770;20074640;21253591;19549371;21471522;21596068;21613222;21734342;21412051;22125448;22257632;16196087;21670080;22451485;23503679;20007713;21730980;21907705;23257783;23418490;23547049;21423203;19840460;21659544;21750559;21516346;19622586;21566062;21824245;21896753;21951844;21216463;21841196;21952639;21628457;22354970;21139048;21906983;18781797;21846680;21899728;22024133;22403404;21947543;22203987;22279045;21887682;22270368;22311987;21983785;22194343;22253918;22266706;21139584;21298030;22056880;22231730;22456335;22108005;22188816;22277751;22292048;21863213;22072062;22623531;19150432;23056582;23064357;23341456;23524145;21674276;21993632;23174563;23301543;21963094;23000965;23195034;22527182;23088735;23364598;23369735;17907802;22190034;22505724;23158473;21507240;22686245;23097624;23171055 4170 C8YZ26;Q9UHR8 AA453505;ABBA01049348;AF118124;AF118276;AF118277;AF118278;AF147742;AF162677;AF198614;AF203373;AK294462;AK297217;AK300499;AK304775;AK312508;AK316267;AL356356;AMYH01001379;BC017197;BC071897;BC107735;BT006640;CA421486;CH471121;DQ088966;FJ917536;L08246;NG_029146;NM_001197320;NM_021960;NM_182763 AAD13299;AAF15309;AAF15310;AAF15311;AAF64255;AAF64256;AAF74821;AAG00896;AAG00904;AAH17197;AAH71897;AAI07736;AAP35286;AAY68220;ABM84721;ABM92245;ACV83304;BAG35409;BAG57694;BAG59700;BAG62213;BAG65530;BAH14638;EAW53538;EAW53539;EAW53540;EAW53541;NP_001184249;NP_068779;NP_877495;Q07820 Hs.632486 1652302;1683172;1792492;1796312;2139212;2155629;2155897;2171536;5091994 D1S3568;MCL1_369;PMC152246P2;RH67950;RH68997;RH78781;SHGC-2474;SHGC-34987;WI-20019 BCL2L3;EAT;MCL1-ES;MCL1L;MCL1S;MGC104264;MGC1839;Mcl-1;TM;bcl2-L-3;mcl1/EAT OTTHUMP00000032794;OTTHUMP00000032795;bcl-2-like protein 3;bcl-2-related protein EAT/mcl1;bcl2-L-3;induced myeloid leukemia cell differentiation protein Mcl-1;mcl1/EAT;myeloid cell leukemia ES;myeloid cell leukemia sequence 1;myeloid cell leukemia sequence 1, isoform 1 APPROVED protein-coding ENSG00000143384 6943 08870 159552 REVIEWED 1322725 MCM10 minichromosome maintenance complex component 10 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 p13 13243587 13293110 + 13203554 13253104 + 6480464 11095689;12791985;12045100;15226314;15707391;17997981;17997977;17975119;17823614;17761813;17699597;16189514;15489334;15232106;15195143;15164054;15136575;14702039;12844493;12808023;12477932;11889827;11864598;11602595;11230166;22570418;16344560;16385451;17643375;19023099;19447967;19608746;19696745;19795399;19805216;20064936;20379614;20098747;21832049;18029348;17370265;21139048;21906983;23000965;23449222 55388 AAB34309;AAB34784;C9J600;Q5T670;Q9H3P9 AB042719;ABBA01034632;AF119869;AK055695;AK292701;AL136840;AL138764;AL355355;AMYH01002042;BC004876;BC009108;BC101727;BC143490;CH471072;DA024424;NM_018518;NM_182751 AAB34309;AAB34784;AAF69623;AAH04876;AAI01728;AAI43491;BAB18723;BAB70988;BAF85390;CAB66774;EAW86297;EAW86298;NP_060988;NP_877428;Q7L590 Hs.198363 1851370 SHGC-5841 CNA43;DNA43;MGC126776;PRO2249 MCM10 minichromosome maintenance deficient 10;OTTHUMP00000019133;OTTHUMP00000019134;OTTHUMP00000216196;homolog of yeast MCM10;hsMCM10;mcm10 minichromosome maintenance deficient 10 (s. cerevisiae);protein MCM10 homolog APPROVED protein-coding ENSG00000065328 18043 11297 609357 VALIDATED 1352112 MCM3AP-AS1 MCM3AP antisense RNA 1 21 21 21 q22.3 32761560 32784035 + 46473586 46496032 + 47649158 47671604 + 6480464 14702039;12477932;12036297;21900206 114044 ABBA01021760;ABBA01021761;AF426262;AF426263;AK001370;AK054878;AMYH01012336;AP001469;BC002458;BC016306;BC030022;BC047759;BC059792;NR_002776 Hs.655095;Hs.731747 2153152;2165939;2176499;2176501 D21S2038;SHGC-51870;SHGC-87721;STS-N58265 C21orf85;FLJ10508;MCM3AP-AS;MCM3APAS;MCM3APASB;MGC61921;NCRNA00031 mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein antisense APPROVED miscrna ENSG00000215424 16417 VALIDATED 1313689 MCM2 minichromosome maintenance complex component 2 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012] 3 3 q21 128799943 128823969 + 127317253 127341279 + 1580863;6480464;6907045 17620012;21097442;21383955;21478101;8175912;11095689;16387653;12791985;8798650;10436018;10846177;11931757;12045100;15226314;15707391;19647517;19318354;19243005;19077563;19001876;19001846;18774496;18465232;18286467;18249467;18248354;18190532;18184650;17940502;17557111;17512033;17081983;16964243;16899510;16882345;16864800;16722928;16629645;16609045;16446360;16169070;16083285;15766559;15654075;15635413;15489334;15345747;15302935;15236977;15232106;15210935;12966424;12805274;12740381;12694531;12614612;12480933;12477932;12392551;12207017;12119552;12087101;11872961;11864598;11568184;11472637;11278932;10748114;10567526;10523313;9642275;8258304;7842741;7584028;7584026;1710453;9099751;16189514;11248027;22474384;22778705;22590819;16428461;16826239;19525936;16902406;18803052;19144445;19522849;19615732;19696745;19805216;19862764;20085707;20174894;20333247;20508983;20562859;20661220;20227376;20628624;20697251;16226712;17296731;21832049;22554381;22939629;20694513;20847638;20184667;21237484;21868526;21868554;21457648;21775519;22863883;21149733;21055985;21081666;21543106;21965782;21866463;21943228;22058115;22407294;21139048;21890473;21906983;21963094;12519773;17927916;18781797;21947329;19471022;22145905;21252943;22115939;21044950;21113133;16344560;21145461;21319273;22053931;22505724;23066029 4171 C9J013;C9JZ21;F8WDM3;H0Y8E6;H7C4N9;P49736 ABBA01020881;AC023593;AK128291;AK299934;AK304204;AK309335;AMYH01013455;AY270230;AY675259;BC000300;BC006165;BC007670;BC007938;BC014272;BC017258;BC017490;BC030131;BM153020;BT009734;CH471052;D21063;D83987;DB100427;FB572966;HH769468;JA397303;NM_004526;NR_073375;X67334 AAH00300;AAH06165;AAH07670;AAH07938;AAH14272;AAH17258;AAH17490;AAH30131;AAP88735;AAP88736;AAT70723;BAA04642;BAA12177;BAG54656;BAG61767;BAH14132;CAA47749;CAR95152;CBX85462;CCD32687;EAW79339;NP_004517;P49736 Hs.477481 1744787;1789841;1789843;1848063;2107335;2163453;2181684;5016905 D3S3345;GDB:568593;MCM2_7820;RH25268;SHGC-30693;STS-X67334;csnpmcm2-pcr1-1;csnpmcm2-pcr6-1 BM28;CCNL1;CDCL1;D3S3194;KIAA0030;MGC10606;MITOTIN;cdc19 DNA replication licensing factor MCM2;MCM2 minichromosome maintenance deficient 2, mitotin;OTTHUMP00000216047;OTTHUMP00000216050;cell devision cycle-like 1;cyclin-like 1;mcm2 minichromosome maintenance deficient 2, mitotin (s. cerevisiae);minichromosome maintenance deficient 2 (mitotin);minichromosome maintenance protein 2 homolog;nuclear protein BM28 APPROVED protein-coding ENSG00000073111 6944 00303 116945 REVIEWED 1313036 MCM3 minichromosome maintenance complex component 3 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 p12 52236771 52257541 - 52128812 52149679 - 1580863;6480464;6907045 21383955;7758114;1549468;12364596;15232106;15654075;17353931;12791985;18029348;10436018;10846177;11095689;11931757;12045100;15226314;15707391;18524952;17244605;17081983;16964243;16537544;15766559;15671553;15635413;15623617;15489334;15302935;15210935;14574404;12614612;12477932;12226073;11258703;11248027;11046155;11024281;10780780;10733502;10464337;10454562;9843502;9712829;9250678;8798650;8631321;8265339;8125298;7760938;7705359;7622621;7615659;7601140;11779870;9099751;15236977;15775975;18247557;21145461;16902406;17148452;17540176;19818763;19862764;20508983;21658608;20545442;20661220;16226712;16951160;17296731;19454010;20211142;22939629;21509594;22863883;23022380;23382044;21149733;21252943;15161933;19596686;21055985;21081666;21900206;21965652;22079093;17620599;22058115;12519773;18781797;21139048;21693764;21890473;21906983;21963094;21987572;19471022;22145905;20473970;21880767;15385968;19738201;22113938;22623428;23000965;23455922;23821456;21504906;22053931;22268729;22505724;22805320 4172 B4DUQ9;B4DWW4;J3KQ69;M0QYS9;P25205;Q7Z6P5 ABBA01050558;AI683709;AK222586;AK299566;AK300754;AK301704;AK312928;AL034343;AMYH01016349;AY032603;AY621074;BC001626;BC003509;BI463632;CH471081;D38073;DC404097;HH769478;NM_001270472;NM_002388;X62153 AAH01626;AAH03509;AAK56392;AAT27321;ABM84580;ABM86766;BAA07267;BAD96306;BAG35772;BAG61508;BAG62421;BAG63176;CAA44078;CBX85467;EAX04366;EAX04367;NP_001257401;NP_002379;P25205 Hs.179565 1668974;1682373;1685363;1789845;2155836;2159546;2191649;5094703 MARC_13500-13501:1002732289:3;MARC_3939-3940:996679197:3;RH46848;RH70755;RH80718;RH80758;STS-T91828;csnpmcm3-pcr1-1 HCC5;MGC1157;P1-MCM3;P1.h;RLFB DNA polymerase alpha holoenzyme-associated protein P1;DNA replication factor MCM3;DNA replication licensing factor MCM3;MCM3 minichromosome maintenance deficient 3;OTTHUMP00000016600;RLF subunit beta;cervical cancer proto-oncogene 5;hRlf beta subunit;mcm3 minichromosome maintenance deficient 3 (s. cerevisiae);minichromosome maintenance deficient 3;p102;replication licensing factor, beta subunit APPROVED protein-coding ENSG00000112118 6945 04072 602693 REVIEWED 1315674 MCM3AP minichromosome maintenance complex component 3 associated protein The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. [provided by RefSeq, Jul 2008] 21 21 q22.3 46479476 46529664 - 47655048 47705236 - 1580863;6480464 9712829;15231748;16780588;15489334;14702039;12885157;12477932;12421765;12226073;12167160;11641399;11526238;11258703;11024281;10830953;10733502;9628581;18276110;16169070;21195085;20384790;19578742;19686285;20005110;20507984;20936779;20714864;16914116;22395445;20811636;21900206;22586326;21139048;21890473;21963094;21988832;23000965;23094019;22505724;22942428 8888 C9JL56;O60318 AB005543;AB011144;ABBA01021760;ABBA01021761;AJ010089;AK022303;AK026578;AK095181;AK126313;AK127239;AK304208;AMYH01012336;AP000471;AP001469;AY590469;BC004497;BC013285;BC104958;BC104960;CH471079;NM_003906 AAH04497;AAH13285;AAI04959;AAI04961;AAS89300;BAA25170;BAA25498;BAG53000;BAG54306;BAG54460;BAH14134;CAB52687;EAX09296;NP_003897;O60318 Hs.389037 1673018;1768839;2153152;2165939;2176499;2176501;2182680;5015869;5020946 D21S2038;G13218;GDB:313261;L17971;SHGC-51870;SHGC-52108;SHGC-87721;SHGC-87728;STS-N58265 FLJ44336;FLJ45306;GANP;KIAA0572;MAP80;SAC3 80 kDa MCM3-associated protein;MCM3 import protein;MCM3 minichromosome maintenance deficient 3 associated protein;OTTHUMP00000115776;germinal center-associated nuclear protein;germinal-centre associated nuclear protein;mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein;minichromosome maintenance deficient 3-associated protein APPROVED protein-coding ENSG00000160294 6946 04483 603294 REVIEWED 735578 MCM4 minichromosome maintenance complex component 4 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 8 8 q11.2 49036047 49052621 + 48872763 48890720 + 6480464;6907045;7240710 11248027;7601140;9099751;15232106;12791985;9465298;18029348;10436018;10846177;11095689;11931757;12045100;15226314;15707391;8265339;19074885;19053250;18190532;17081983;17046832;17005684;16964243;16519687;16517729;15635413;15489334;15302935;15236977;15081408;15037254;14702039;12771218;12714602;12694531;12614612;12477932;12207017;11454864;11136247;10748114;10567526;9642275;9305914;9284934;8798650;8631321;22499342;22407294;22586326;16341674;16387653;16902406;17222376;18162579;19615732;19773279;20333247;20508983;19862764;20398247;20211142;20800603;17296731;12364596;22668557;17620012;20884074;22863883;22939629;22990118;21149733;18274552;20639865;21055985;21081666;21139048;21693764;21890473;21906983;21963094;22157815;19738201;22623428;23000965;23264620;19471022;22145905;21252943;22354167;22354170;19322201;21113133;22160829;18247557;22053931;22190034;22505724;22797925 4173 B3KMX0;B4DLA6;E5RFJ8;E5RFR3;E5RG31;E5RG53;E5RHP5;P33991 ABBA01041643;ABBA01041644;AC021236;AK022899;AK296913;AK309812;AM493756;AMYH01018702;AY588245;BC031061;BF793151;BM781972;BQ058022;BQ689703;CH471068;HH769490;NG_032967;NM_005914;NM_182746;U63630;U90415;X74794 AAB51723;AAC52018;AAH31061;AAS83108;BAG51132;BAG59468;CAA52801;CAM35476;CBX85473;EAW86684;EAW86685;EAW86686;NP_005905;NP_877423;P33991 Hs.460184 1678069;1698082;1792268;1792270;1792272;1792274;1792276;1792278;2128311;2140431;2158408;2158767;5017646;5020948;5022200;5022578 D1S1423;G32123;G35510;L18426;MCM4;PMC140533P1;PMC140533P2;PMC140533P3;PMC140533P4;PMC140533P5;PMC140533P6;RH102573;RH78302;RH80868;SHGC-35380;STS-N27515 CDC21;CDC54;MGC33310;NKCD;NKGCD;P1-CDC21;hCdc21 CDC21 homolog;DNA replication licensing factor MCM4;MCM4 minichromosome maintenance deficient 4;OTTHUMP00000226180;OTTHUMP00000226181;OTTHUMP00000226184;homolog of S. pombe cell devision cycle 21;mini chromosome maintenance deficient 4 homolog (s. cerevisiae);minichromosome maintenance deficient 4 APPROVED protein-coding ENSG00000104738 6947 09094 602638;609981 REVIEWED 1313696 MCM9 minichromosome maintenance complex component 9 The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010] 6 6 6 q22.31 119879142 119935829 - 119273461 119298002 - 119134612 119256327 - 6480464 18657502;16495042;16226853;15850810;14702039;14574404;12477932;19292915;19342892;8125298;23403237;21139048;21906983;21145461;23401855 254394 D6RE85;D6RHY8;H0Y6M9;Q9NXL9 ABBA01026024;ABBA01026025;AK000177;AK122665;AK225233;AK299076;AL132874;AL359634;AMYH01016623;AMYH01016624;BC024976;BC031658;BN000882;BX649114;CH471051;DB453085;DB476942;NM_017696;NM_153255 AAH31658;ABM83391;ABM86604;BAA90991;BAG53653;BAG61142;CAJ70648;EAW48191;EAW48192;NP_060166;NP_694987;Q9NXL9 Hs.279008;Hs.733116;Hs.736853 1698124;2158417;2172176 RH102595;RH46678;SHGC-31008 C6orf61;FLJ13942;FLJ20170;FLJ56845;MCMDC1;MGC35304;dJ329L24.1;dJ329L24.3 DNA helicase MCM9;DNA replication licensing factor MCM9;OTTHUMP00000017098;OTTHUMP00000017099;hMCM9;mini-chromosome maintenance deficient domain-containing protein 1;minichromosome maintenance 9;minichromosome maintenance deficient domain containing 1 APPROVED protein-coding ENSG00000111877 21484 17472 610098 REVIEWED 1349273 MCO microphthalmia (Los Angeles type) 4178 6952 1315334 MCM5 minichromosome maintenance complex component 5 The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008] 22 22 q13.1 34126116 34150495 + 35796116 35820495 + 1580863;6480464;6907045 21478101;15232106;17353931;12791985;8751386;10436018;10846177;11095689;11931757;12045100;15226314;15707391;19318354;19130399;19074885;18799789;18465232;18181189;17988337;17940502;17557111;16341674;16199513;16189514;15696126;15635413;15489334;15461802;15324660;14743216;14702039;12614612;12477932;11839717;11248027;10591208;10327050;9843502;9223437;8798650;8265339;8125298;7705359;9099751;15236977;18247557;12364596;19615732;19862764;20085707;20508983;16902406;17296731;20694513;21106093;21832049;22939629;21233845;16335966;21252943;22863883;23022380;21149733;19531213;22586326;18274552;21055985;21081666;21139048;21890473;21900206;21906983;21963094;21987572;18239623;22268729;22505724;22944692;23095216 4174 B1AHA9;B1AHB0;B1AHB1;B1AHB2;F8WFD7;P33992 AB209612;ABBA01055413;ABBA01055414;AK122853;AK130620;AK223323;AK291136;AK298624;AK301121;AK308343;AK312533;AMYH01012742;AMYH01012743;AY212028;BC000142;BC003656;BM787690;CH471095;CR456517;D83986;HH769500;NM_006739;X74795;Z82244 AAH00142;AAH03656;AAO21127;BAA12176;BAD92849;BAD97043;BAF83825;BAG35432;BAG53762;BAG60801;BAG62717;CAA52802;CAG30403;CAK54548;CAK54847;CBX85478;EAW60060;EAW60061;EAW60062;EAW60063;NP_006730;P33992 Hs.517582 2108247;2132886;2180886 AL008648;MCM5_7823;SGC35494 CDC46;MGC5315;P1-CDC46 CDC46 homolog;DNA replication licensing factor MCM5;MCM5 minichromosome maintenance deficient 5, cell division cycle 46;OTTHUMP00000198814;OTTHUMP00000198821;mcm5 minichromosome maintenance deficient 5, cell division cycle 46 (s. cerevisiae);minichromosome maintenance deficient 5 (cell division cycle 46) APPROVED protein-coding ENSG00000100297 6948 04075 602696 REVIEWED 1313114 MCM8 minichromosome maintenance complex component 8 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] 20 20 20 p12.3 6002910 6047121 + 5879298 5923833 + 5931298 5975833 + 6480464 12791985;10436018;11095689;11125146;11931757;12045100;15226314;15684404;15707391;18072282;15489334;14702039;12771218;12527764;12477932;11780052;8889548;22131368;22318606;19448619;19448621;20800603;20205591;19913121;20628086;22267201;23307926;23401855;22696150 84515 Q969I5 ABBA01053893;ABBA01053894;ABBA01053895;ABBA01053896;ABBA01053897;AI200387;AJ439063;AK027644;AK297806;AK314654;AL035461;AMYH01011696;AY158211;BC005170;BC008830;BC080656;BC101054;BC101055;BC101056;BC101057;BM664368;CH471133;CS402789;CS402791;CS402793;CS402795;CS402799;CS402801;NM_001281520;NM_001281521;NM_001281522;NM_032485;NM_182802 AAH08830;AAH80656;AAI01055;AAI01056;AAI01057;AAI01058;AAO21222;BAB55260;BAG37214;BAG60144;CAD27750;CAL40366;CAL40367;CAL40368;CAL40369;CAL40371;CAL40372;EAX10403;EAX10404;EAX10405;NP_001268449;NP_001268450;NP_001268451;NP_115874;NP_877954;Q9UJA3 Hs.597484 1668522;1778025;1792698;1848036;2108249;5112225 MCM8_8114;PMC156728P1;RH102540;RH68660;SGC32385;WI-17957 C20orf154;MGC119522;MGC119523;MGC12866;MGC4816;REC;dJ967N21.5 DNA helicase MCM8;DNA replication licensing factor MCM8;MCM8 minichromosome maintenance deficient 8;OTTHUMP00000030217;OTTHUMP00000030218;REC homolog;mcm8 minichromosome maintenance deficient 8 (s. cerevisiae);minichromosome maintenance 8 APPROVED protein-coding ENSG00000125885 16147 12186 608187 REVIEWED 1352854 MCM6 minichromosome maintenance complex component 6 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012] 2 2 q21 136313666 136350481 - 136597196 136634047 - 1580863;6480464;6907045;7240710 15236977;9286856;15232106;12791985;10436018;10846177;11095689;11931757;12045100;15226314;15707391;18797476;17911653;17410335;17159977;16964243;16344560;16189514;15635413;15489334;12771218;12694531;12614612;12477932;12192004;11788828;11136247;10748114;10567526;10327050;9516426;9305914;8977093;8921380;8798650;12207017;9099751;11248027;12519773;18247557;21145461;21319273;19454010;19862764;17620012;21099365;16387653;16438930;16902406;17148452;17294730;17643375;17955473;18029348;18162579;19615732;19937006;20085707;20103649;20173814;20202939;20447925;20508983;20628624;16159877;17296731;18184650;22939629;20227376;22863883;22990118;21149733;15146197;22058115;22318606;22407294;22586326;16899510;18781797;21055985;21081666;21139048;21890473;21906983;21963094;22079093;22140117;19738201;22623428;23000965;21252943;21113133;21853274;22053931;22190034;22268729;22505724 4175 Q14566;Q53T61 AA577398;ABBA01028160;AC011893;AC011999;AK299236;AK303455;AK312575;AMYH01011124;AU124893;AY220757;BC008774;BC020268;BC032374;CH471058;CN389677;CS566136;D84557;DA521248;NG_008958;NM_005915;U46838 AAC50766;AAH32374;AAO26043;AAX88925;AAY15028;BAA12699;BAG35469;BAG61268;BAG64499;CAN37618;EAX11621;NP_005906;Q14566 Hs.444118 1676510;1706084;1724221;1789847;1789849;1789851;1789853;1789855;1789857;1789859;1789861;1789863;1789865;2125277;2144784;2176887;2185214 G29257;RH121248;RH46031;RH67906;RH77976;RH93355;SHGC-80078;csnpmcm6-pcr1-1;csnpmcm6-pcr10-1;csnpmcm6-pcr11-1;csnpmcm6-pcr12-1;csnpmcm6-pcr17-1;csnpmcm6-pcr3-1;csnpmcm6-pcr5-1;csnpmcm6-pcr6-1;csnpmcm6-pcr7-1;csnpmcm6-pcr9-1 MCG40308;Mis5;P105MCM DNA replication licensing factor MCM6;MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe);MIS5 homolog;OTTHUMP00000162532;mcm6 minichromosome maintenance deficient 6 (mis5 homolog, s. pombe) (s. cerevisiae);minichromosome maintenance deficient (mis5, S. pombe) 6;minichromosome maintenance deficient 6 homolog APPROVED protein-coding ENSG00000076003 6949 03485 223100;601806 REVIEWED 1315515 MCMBP minichromosome maintenance complex binding protein This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 10 q26.11 115320043 115363436 - 121578962 121622384 - 121588916 121633140 - 737633;6480464 12477932 17296731;16964243;16189514;15489334;15146197;14702039;21145461;16385451;19615732;20090939;22250201;20562859;21196493;22863883;18029348;22540012;16344560;21987572;20972266;21139048;21890473;21906983;21963094;21252943;22053931;22505724;22797925 79892 Q9BTE3 AA292620;ABBA01062885;AC027672;AK001928;AK023143;AK094075;AMYH01003120;BC000935;BC004183;BC007219;BQ929053;CH471066;CN259319;CR457299;DA381502;NM_001256378;NM_001256379;NM_024834 AAH00935;AAH04183;AAH07219;BAB14427;BAG52809;CAG33580;EAW49375;EAW49376;EAW49377;EAW49378;NP_001243307;NP_001243308;NP_079110;Q9BTE3 Hs.124246 1655707;1703176;2178166;5019625;5022578 A005M41;D1S1423;G32243;SGC32380;WI-17160 C10orf119;FLJ13081;FLJ36756;MCM-BP MCM-binding protein;OTTHUMP00000020611;OTTHUMP00000020612;chromosome 10 open reading frame 119;mini-chromosome maintenance complex-binding protein;minichromosome maintenance complex binding protein;minichromosome maintenance complex-binding protein APPROVED protein-coding ENSG00000197771 25782 07624 610909 VALIDATED 1351745 MCPH2 microcephaly, primary autosomal recessive 2 7240710 4181 6955 604317 1343826 MCPH3 microcephaly, primary autosomal recessive 3 7240710 23702 6956 604804 1346684 MCPH4 microcephaly, primary autosomal recessive 4 7240710 23701 6957 604321;613823 1344440 MCPH6 microcephaly, primary autosomal recessive 6 7240710 170629 17120 608393;613676 1342873 MCPHA microcephaly, Amish 7240710 246765 15665 607196;613710 1605856 MCMDC2 minichromosome maintenance domain containing 2 8 8 8 q13.1 63776478 63827777 + 67948884 67976570 + 67782984 67834283 + 6480464 15489334;12477932 157777 B4DXX4;F8WCM6;F8WDR8;G3XAN3;Q4G0Z9 AA928149;ABBA01041882;AC011031;AK098558;AK302169;AK302672;AK303003;AK304170;AL833526;AMYH01018774;BC034576;BC063108;BG722401;BX537587;CH471068;NM_001136160;NM_001136161;NM_173518 AAH34576;AAH63108;BAC05333;BAG63536;BAG63905;BAG64136;BAG65055;CAD97790;EAW86921;EAW86922;EAW86923;NP_001129632;NP_001129633;NP_775789;Q4G0Z9 Hs.437006 1647136;1653537;2161197;5022651 D11S2921;RH47443;RH47823;STS-AA035428 C8orf45;FLJ25692 MCM domain-containing protein 2;MCM domain-containing protein C8orf45;OTTHUMP00000211426;OTTHUMP00000211427;OTTHUMP00000211429;OTTHUMP00000228341;minichromosome maintenance complex component-like;uncharacterized protein C8orf45 APPROVED protein-coding ENSG00000178460 26368 08072 VALIDATED 1351022 MCS Miles-Carpenter X-linked mental retardation syndrome 7240710 2018061;1605216 4183 6961 1347363 MCM7 minichromosome maintenance complex component 7 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 7 7 q21.3-q22.1 99528340 99537363 - 99690404 99699427 - 1580863;2317697;2317698;6480464;6907045 15548371;17394799 21880767;21478101;15538388;10518787;16438930;12791985;8798650;18029348;10436018;10846177;11095689;11931757;12045100;15226314;15707391;19401682;19318354;19189662;18636144;18072282;17557111;17310990;17094475;16703398;16289477;16247466;16189514;15720416;15654075;15635413;15489334;15232106;15210935;14743216;14702039;14678972;14550576;14516785;12771218;12694531;12690205;12614612;12519773;12477932;12207017;11861392;11056214;10748114;10722676;10649446;10567526;10473096;10464337;9852095;9714754;9566894;9305914;9133452;9110174;9099751;8652665;8631321;8626784;8619474;8265339;8258304;7842741;7601140;1710453;18162579;11248027;11779870;17353931;15236977;18247557;21145461;21319273;22456526;20388916;17314511;19144445;19270065;19696745;19805216;19834905;20508983;9223437;19862764;20098747;20661220;16902406;16912045;19454010;19486527;21078875;20048674;20236609;17296731;20953179;21832049;22939629;22863883;21076460;21383955;21658608;16335966;20811636;23313748;21252943;21619671;21965782;16196087;21149733;19471022;22145905;17623298;18781797;19596686;20639865;21055985;21081666;21139048;21415862;21890473;21906983;21963094;21987572;22108332;23318911;23824909;22058115;22407294;20473970;10454562;15123239;16344560;19389623;19738201;21988832;22623428;23000965;23201130;23455922;23703321;22053931;22190034;22268729;22505724;22784096 4176 C9J8M6;H0YH42;P33993 AACC02000084;AB004270;ABBA01013238;AC073842;AF279900;AI083651;AK055379;AK096959;AK226175;AK293172;AK314575;AMYH01017726;AY007130;BC009398;BC013375;CH236956;CH471091;D55716;D86748;DA253520;DA397394;DA538092;HH769510;NM_001278595;NM_005916;NM_182776;X74796 AAG01994;AAH09398;AAH13375;AAK07555;ABM86873;ABW03896;BAA09534;BAG37153;BAG51508;BAG53399;BAG56716;BAH84845;CAA52803;CBX85483;EAL23855;EAL23856;EAW76598;EAW76599;EAW76600;NP_001265524;NP_005907;NP_877577;P33993 Hs.438720 1757283;1788738;1855782;2114981;2135181;2181167;5110673 D7S2929;RH128042;RH47672;RH65692;RH78474;SHGC-144694;WI-19563 CDABP0042;CDC47;MCM2;P1.1-MCM3;P1CDC47;P85MCM;PNAS-146;PNAS146 CDC47 homolog;DNA replication licensing factor MCM7;OTTHUMP00000206385;homolog of S. cerevisiae Cdc47;mcm7 minichromosome maintenance deficient 7 (s. cerevisiae);minichromosome maintenance deficient 7 APPROVED protein-coding ENSG00000166508 6950 01154 600592 REVIEWED 1318909 MCOLN2 mucolipin 2 Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009] 1 1 1 p22 83635160 83706701 - 85163854 85235384 - 85391266 85462796 - 1580863;6480464 17662026;16606612;16382100;14702039;12477932;12403827;22753890;19763610;19885840;19940139;20379614;20736310 255231 G5EA24;Q8IZK6 ABBA01045646;ABBA01045647;ABBA01045648;AK094010;AK129786;AK309858;AL139150;AL358789;AMYH01000753;AV713773;AY083533;BC104891;BC104893;BF512441;CH471097;JA738659;NM_153259 AAI04892;AAI04894;AAM08926;BAC04267;CCF76982;EAW73219;EAW73220;EAW73221;NP_694991;Q8IZK6 Hs.591446 1699464;1705282;2107337 MCOLN2__7385;RH103324;SHGC-78598 FLJ36691;TRP-ML2;TRPML2 OTTHUMP00000011614;OTTHUMP00000228588;mucolipin-2 APPROVED protein-coding ENSG00000153898 13357 09584 607399 REVIEWED 1318177 MCOLN3 mucolipin 3 This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 1 1 p22.3 85256353 85286757 - 85483765 85514223 - 1580863;6480464 19299509;18369318;18162548;17962195;16710414;16606612;16382100;14702039;12477932;12403827;11326278;19497048;19522758;19885840;20378547;16712791;20736310;15342556;21890473;22753890 55283 B1ANB7;Q8TDD5 ABBA01045645;ABBA01045646;AF475085;AK001868;AK093948;AK095148;AK292206;AK314354;AL358789;AMYH01000753;BC060765;BP358726;BQ006750;BU634119;BX483450;BX647497;CB159774;CH471097;JA738735;NM_001253693;NM_018298;W03483 AAH60765;AAL84622;BAA91951;BAF84895;CCF77020;EAW73215;EAW73216;EAW73217;EAW73218;NP_001240622;NP_060768;Q8TDD5 Hs.535239 FLJ11006;FLJ36629;MGC71509;TRP-ML3;TRPML3 OTTHUMP00000011616;OTTHUMP00000011617;mucolipin-3 APPROVED protein-coding ENSG00000055732 13358 09585 607400 VALIDATED 1319026 MCOLN1 mucolipin 1 This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009] 19 19 p13.2 7493512 7504864 + 7587496 7598895 + 1599926;1580863;6480464;7204689;7240710 10973263;20716668 15345747;11030752;11013137;18794901;18264947;17988215;17924347;17306511;17239335;16978393;16645217;16606612;16517607;16382100;16361256;16287144;16257972;16133264;15523648;15489334;15336987;15178326;15070744;14749347;14702039;12477932;12459486;12182165;12125810;11845410;11318610;11317355;10441585;8125298;16169070;11326278;18504305;19006653;19638346;19763610;19864416;19885840;18029348;20864526;2874839;20736310;21224396;20301393;21256127;21290297;21540176;21613607;22262857;21889421;22415822;22733759;23047439;23368743 57192 M0QXD0;M0R1X7;Q9GZU1 AA831948;ABBA01010900;AC008878;AF171088;AF249319;AF287269;AF287270;AF305579;AJ293659;AJ293970;AK026102;AK222673;AK294330;AK310109;AMYH01009406;BC005149;CH471139;DC356874;NG_015806;NM_020533 AAG00797;AAG00798;AAG10422;AAG42242;AAH05149;AAQ13604;ABM82770;ABM85958;BAB15360;BAD96393;BAG57602;CAC07813;CAC08215;EAW69031;EAW69032;EAW69033;EAW69034;NP_065394;Q9GZU1 Hs.631858 1655491;1680104;1681955;1685281;1795042;5037552;5037554 D8S2279;D8S2282;PMC88885P1;RH68764;RH80512;RH91529;RH93812 MG-2;ML4;MLIV;MST080;MSTP080;TRP-ML1;TRPM-L1;TRPML1 MG-2;mucolipidin;mucolipidosis type IV protein;mucolipin-1 APPROVED protein-coding ENSG00000090674 13356 05582 252650;605248 REVIEWED 1605937 MCTP1 multiple C2 domains, transmembrane 1 5 5 5 q15 89904181 90498783 - 94068957 94646035 - 94042284 94620279 - 6480464 15528213;15203218;14702039;12477932;19416921;20379614;23568457 79772 D6R8Z9;D6RA42;D6RC97;E5RJR1;H0Y8M9;H0Y9S8;H0Y9Y6;H0YA70;Q6DN14 ABBA01069256;ABBA01069257;ABBA01069258;ABBA01069259;ABBA01069260;ABBA01069261;ABBA01069262;ABBA01069263;ABBA01069264;ABBA01069265;ABBA01069266;ABBA01069267;ABBA01069268;AC008534;AC008573;AC010362;AC012312;AC099507;AK025997;AK057694;AK058012;AK091330;AK297325;AMYH01015487;AMYH01015488;AMYH01015489;AMYH01015490;AY656715;AY656716;BC030005;CD632270;CH471084;DC410959;NM_001002796;NM_024717 AAH30005;AAT73058;AAT73059;BAB15311;BAB71547;BAC03637;BAH12547;EAW96031;EAW96032;EAW96033;NP_001002796;NP_078993;Q6DN14 Hs.655087 1703732;1712589;1712675;1724887;1752081;1761553;1772469;1776967;1777021;1847115;1856027;2114420;2118343;2119926;2135600;2143262;2148957;2154174;2154176;2159469 1790;A002B42;A007H21;AFM205wg7;D5S1450;D5S1628E;D5S1649E;D5S2468;D5S2486;G19904;L28355;L28422;RH119208;RH120103;RH122001;RH66318;SHGC-106024;SHGC-145548;SHGC-2934;SHGC-78910 FLJ22344 OTTHUMP00000222616;OTTHUMP00000222618;OTTHUMP00000222620;OTTHUMP00000222621;OTTHUMP00000222622;OTTHUMP00000222671;OTTHUMP00000225845;multiple C2 and transmembrane domain-containing protein 1;multiple C2-domains with two transmembrane regions 1 protein-coding ENSG00000175471 26183 08652 VALIDATED 1349111 MCPH1 microcephalin 1 This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 8 8 p23.1 6251529 6493434 + 6264113 6501140 + 6480464;7240710 16479174;16344560;16217032;16151009;15489334;15220350;15199523;15056608;14702039;12837246;12571366;12477932;12046007;11857108;9683597;19546241;19525936;19475667;19267414;18718915;18660752;18635967;18204051;17925396;17566767;17251122;17220170;17102619;16872911;16783362;16687438;21150325;20485444;20602615;19549900;19690177;19793310;19829069;19925808;20056645;20080800;20101680;20107607;20379614;20508983;20949544;21515671;21799462;20632086;21911480;21297427;21934293;22139841;22154951;22219182;22136275;22240313;21993531;20301772;21988832;23296058;23472065;22908299;23001041;22952573 79648 Q8NEM0 ABBA01007056;ABBA01007057;ABBA01007058;AC016065;AC018398;AF287957;AI379664;AI480294;AK022909;AK023946;AK057995;AK301702;AK308387;AMYH01018299;AMYH01018300;AX087870;AY307773;AY307774;AY307775;AY307776;AY307777;AY307778;AY307779;AY307780;AY307781;AY307782;AY307783;AY307784;AY307785;AY307786;AY307787;AY307788;AY307789;AY307790;AY307791;AY307792;AY307817;AY307818;AY307819;AY307820;AY307821;AY307822;AY307823;AY307824;AY307825;AY307826;AY307827;AY307828;AY307829;AY307830;AY307831;AY307832;AY307833;AY307834;AY307835;AY307836;AY505571;AY505572;AY505573;AY505574;AY505575;AY505576;AY505577;AY505578;AY505579;AY505580;AY505581;AY505582;AY505583;AY505584;AY505585;AY505586;AY505587;AY505588;AY505589;AY505590;AY505591;AY505592;AY505593;AY505594;AY505595;AY505596;AY505597;AY505598;AY505599;AY505600;AY505601;AY505602;AY505603;AY505604;AY505605;AY505606;AY505607;AY505608;AY505609;AY505610;AY505611;AY505637;AY505638;AY505639;AY505640;AY505641;AY505642;AY505643;AY505644;AY505645;AY505646;AY505647;AY505648;AY505649;AY505650;AY505651;AY505652;AY505653;AY505654;AY505655;AY505656;AY505657;AY505658;AY505659;AY505660;AY505661;AY505662;AY505663;AY505664;AY505665;AY505666;AY505667;AY505668;AY505669;AY505670;AY505671;AY505672;AY505673;AY505674;AY505675;AY505676;AY505677;AY505703;AY505704;AY505705;AY505706;AY505707;AY505708;AY505709;AY505710;AY505711;AY505712;AY505713;AY505714;AY505715;AY505716;AY505717;AY505718;AY505719;AY505720;AY505721;AY505722;AY505723;AY505724;AY505725;AY505726;AY505728;AY505729;AY505730;AY505731;AY505732;AY505733;AY505734;AY505735;AY505736;AY505737;AY505738;AY505739;AY505740;AY505741;AY505742;AY505743;AY505769;AY505770;AY505771;AY505772;AY505773;AY505774;AY505775;AY505776;AY505777;AY505778;AY505779;AY505780;AY505781;AY505782;AY505783;AY505784;AY505785;AY505786;AY505787;AY505788;AY505789;AY505790;AY505791;AY505792;AY505793;AY505794;AY505795;AY505796;AY505797;AY505798;AY505799;AY505800;AY505801;AY505802;AY505803;AY505804;AY505805;AY505806;AY505807;AY505808;AY505809;AY505835;AY505836;AY505837;AY505838;AY505839;AY505840;AY505841;AY505842;AY505843;AY505844;AY505845;AY505846;AY505847;AY505848;AY505849;AY505850;AY505851;AY505852;AY505853;AY505854;AY505855;AY505856;AY505857;AY505858;AY505859;AY505860;AY505861;AY505862;AY505863;AY505864;AY505865;AY505866;AY505867;AY505868;AY505869;AY505870;AY505871;AY505872;AY505873;AY505874;AY505875;AY505901;AY505902;AY505903;AY505904;AY505905;AY505906;AY505907;AY505909;AY505912;AY505913;AY505914;AY505915;AY505916;AY505917;AY505918;AY505919;AY505920;AY505921;AY505922;AY505923;AY505924;AY505925;AY505926;AY505927;AY505928;AY505929;AY505930;AY505931;AY505932;AY505933;AY505934;AY505935;AY505936;AY505937;AY505938;AY505939;AY505940;AY505941;AY505967;AY505968;AY505969;AY505970;AY505971;AY505972;AY505973;AY505974;AY505975;AY505976;AY505977;AY505978;AY505979;AY505980;AY505981;AY505982;AY505983;AY505984;AY505985;AY505986;AY505987;AY505988;AY505989;AY505990;AY505991;AY505992;AY505997;AY505998;AY505999;AY506000;AY506001;AY506002;AY506003;AY506004;AY506005;AY506006;AY506007;AY506008;AY506009;AY506010;AY506011;AY506012;AY506013;AY506014;AY506015;AY506016;AY506017;AY506018;AY506019;AY506020;AY506021;AY506022;AY506023;AY506024;AY506025;AY506026;AY506027;AY506028;AY506029;AY506030;AY506031;AY506032;AY506033;AY506034;AY506035;AY506036;AY506037;AY506063;AY506064;AY506065;AY506066;AY506067;AY506068;AY506069;AY506070;AY506071;AY506072;AY506073;AY506074;AY506075;AY506076;AY506077;AY506078;AY506079;AY506080;AY506081;AY506082;AY506083;AY506084;AY506085;AY506086;AY506087;AY506088;AY506089;AY506090;AY506091;AY506092;AY506093;AY506094;AY506095;AY506096;AY506097;AY506098;AY506099;AY506100;AY506101;AY506102;AY506103;AY506129;AY506130;AY506131;AY506132;AY506133;AY506134;AY506135;AY506136;AY506137;AY506138;AY506139;AY506140;AY506141;AY506142;AY506143;AY506144;AY506145;AY506146;AY506147;AY506148;AY506149;AY506150;AY506151;AY506152;AY506153;AY506154;AY506155;AY506156;AY506157;AY506158;AY506159;AY506160;AY506161;AY506162;AY506163;AY506164;AY506165;AY506166;AY506167;AY506168;AY506169;AY506195;AY506196;AY506197;AY506198;AY506199;AY506200;AY506201;AY506202;AY506203;AY506204;AY506205;AY506206;AY506207;AY506208;AY506209;AY506210;AY506211;AY506212;AY506213;AY506214;AY506215;AY506216;AY506217;AY506218;AY506219;AY506220;AY506221;AY506222;AY506223;AY506224;AY506225;AY506226;AY506227;AY506228;AY506229;AY506230;AY506231;AY506232;AY506233;AY506234;AY506235;AY506261;AY506262;AY506263;AY506264;AY506265;AY506266;AY506267;AY506268;AY506269;AY506270;AY506271;AY506272;AY506273;AY506274;AY506275;AY506276;AY506277;AY506278;AY506279;AY506280;AY506281;AY506282;AY506283;AY506284;AY506285;AY506286;AY506294;AY506298;AY506299;AY506300;AY506304;AY506307;AY506308;AY506309;AY506311;AY506312;AY506314;AY506315;AY506316;AY506317;AY506318;AY506320;AY506321;AY506327;AY506328;AY506330;BC030702;BC056195;BK004076;CH471153;DB051427;DC321458;NG_016619;NM_001172574;NM_001172575;NM_024596 AAH30702;AAQ92669;AAQ92670;AAQ92671;AAQ92672;AAQ92673;AAQ92674;AAQ92675;AAQ92676;AAQ92677;AAQ92678;AAQ92679;AAQ92680;AAQ92681;AAQ92682;AAQ92683;AAQ92684;AAQ92685;AAQ92686;AAQ92687;AAQ92688;AAQ92713;AAQ92714;AAQ92715;AAQ92716;AAQ92717;AAQ92718;AAQ92719;AAQ92720;AAQ92721;AAQ92722;AAQ92723;AAQ92724;AAQ92725;AAQ92726;AAQ92727;AAQ92728;AAQ92729;AAQ92730;AAQ92731;AAQ92732;AAS86449;AAS86450;AAS86451;AAS86452;AAS86453;AAS86454;AAS86455;AAS86456;AAS86457;AAS86458;AAS86459;AAS86460;AAS86461;AAS86462;AAS86463;AAS86464;AAS86465;AAS86466;AAS86467;AAS86468;AAS86469;AAS86470;AAS86471;AAS86472;AAS86473;AAS86474;AAS86475;AAS86476;AAS86477;AAS86478;AAS86479;AAS86480;AAS86481;AAS86482;AAS86483;AAS86484;AAS86485;AAS86486;AAS86487;AAS86488;AAS86489;AAS86515;AAS86516;AAS86517;AAS86518;AAS86519;AAS86520;AAS86521;AAS86522;AAS86523;AAS86524;AAS86525;AAS86526;AAS86527;AAS86528;AAS86529;AAS86530;AAS86531;AAS86532;AAS86533;AAS86534;AAS86535;AAS86536;AAS86537;AAS86538;AAS86539;AAS86540;AAS86541;AAS86542;AAS86543;AAS86544;AAS86545;AAS86546;AAS86547;AAS86548;AAS86549;AAS86550;AAS86551;AAS86552;AAS86553;AAS86554;AAS86555;AAS86581;AAS86582;AAS86583;AAS86584;AAS86585;AAS86586;AAS86587;AAS86588;AAS86589;AAS86590;AAS86591;AAS86592;AAS86593;AAS86594;AAS86595;AAS86596;AAS86597;AAS86598;AAS86599;AAS86600;AAS86601;AAS86602;AAS86603;AAS86604;AAS86606;AAS86607;AAS86608;AAS86609;AAS86610;AAS86611;AAS86612;AAS86613;AAS86614;AAS86615;AAS86616;AAS86617;AAS86618;AAS86619;AAS86620;AAS86621;AAS87606;AAS87607;AAS87608;AAS87609;AAS87610;AAS87611;AAS87612;AAS87613;AAS87614;AAS87615;AAS87616;AAS87617;AAS87618;AAS87619;AAS87620;AAS87621;AAS87622;AAS87623;AAS87624;AAS87625;AAS87626;AAS87627;AAS87628;AAS87629;AAS87630;AAS87631;AAS87632;AAS87633;AAS87634;AAS87635;AAS87636;AAS87637;AAS87638;AAS87639;AAS87640;AAS87641;AAS87642;AAS87643;AAS87644;AAS87645;AAS87646;AAS87672;AAS87673;AAS87674;AAS87675;AAS87676;AAS87677;AAS87678;AAS87679;AAS87680;AAS87681;AAS87682;AAS87683;AAS87684;AAS87685;AAS87686;AAS87687;AAS87688;AAS87689;AAS87690;AAS87691;AAS87692;AAS87693;AAS87694;AAS87695;AAS87696;AAS87697;AAS87698;AAS87699;AAS87700;AAS87701;AAS87702;AAS87703;AAS87704;AAS87705;AAS87706;AAS87707;AAS87708;AAS87709;AAS87710;AAS87711;AAS87712;AAS87738;AAS87739;AAS87740;AAS87741;AAS87742;AAS87743;AAS87744;AAS87746;AAS87749;AAS87750;AAS87751;AAS87752;AAS87753;AAS87754;AAS87755;AAS87756;AAS87757;AAS87758;AAS87759;AAS87760;AAS87761;AAS87762;AAS87763;AAS87764;AAS87765;AAS87766;AAS87767;AAS87768;AAS87769;AAS87770;AAS87771;AAS87772;AAS87773;AAS87774;AAS87775;AAS87776;AAS87777;AAS87778;AAS87804;AAS87805;AAS87806;AAS87807;AAS87808;AAS87809;AAS87810;AAS87811;AAS87812;AAS87813;AAS87814;AAS87815;AAS87816;AAS87817;AAS87818;AAS87819;AAS87820;AAS87821;AAS87822;AAS87823;AAS87824;AAS87825;AAS87826;AAS87827;AAS87828;AAS87829;AAS87834;AAS87835;AAS87836;AAS87837;AAS87838;AAS87839;AAS87840;AAS87841;AAS87842;AAS87843;AAS87844;AAS87845;AAS87846;AAS87847;AAS87848;AAS87849;AAS87850;AAS87851;AAS87852;AAS87853;AAS87854;AAS87855;AAS87856;AAS87857;AAS87858;AAS87859;AAS87860;AAS87861;AAS87862;AAS87863;AAS87864;AAS87865;AAS87866;AAS87867;AAS87868;AAS87869;AAS87870;AAS87871;AAS87872;AAS87873;AAS87874;AAS87900;AAS87901;AAS87902;AAS87903;AAS87904;AAS87905;AAS87906;AAS87907;AAS87908;AAS87909;AAS87910;AAS87911;AAS87912;AAS87913;AAS87914;AAS87915;AAS87916;AAS87917;AAS87918;AAS87919;AAS87920;AAS87921;AAS87922;AAS87923;AAS87924;AAS87925;AAS87926;AAS87927;AAS87928;AAS87929;AAS87930;AAS87931;AAS87932;AAS87933;AAS87934;AAS87935;AAS87936;AAS87937;AAS87938;AAS87939;AAS87940;AAS87966;AAS87967;AAS87968;AAS87969;AAS87970;AAS87971;AAS87972;AAS87973;AAS87974;AAS87975;AAS87976;AAS87977;AAS87978;AAS87979;AAS87980;AAS87981;AAS87982;AAS87983;AAS87984;AAS87985;AAS87986;AAS87987;AAS87988;AAS87989;AAS87990;AAS87991;AAS87992;AAS87993;AAS87994;AAS87995;AAS87996;AAS87997;AAS87998;AAS87999;AAS88000;AAS88001;AAS88002;AAS88003;AAS88004;AAS88005;AAS88006;AAS88032;AAS88033;AAS88034;AAS88035;AAS88036;AAS88037;AAS88038;AAS88039;AAS88040;AAS88041;AAS88042;AAS88043;AAS88044;AAS88045;AAS88046;AAS88047;AAS88048;AAS88049;AAS88050;AAS88051;AAS88052;AAS88053;AAS88054;AAS88055;AAS88056;AAS88057;AAS88058;AAS88059;AAS88060;AAS88061;AAS88062;AAS88063;AAS88064;AAS88065;AAS88066;AAS88067;AAS88068;AAS88069;AAS88070;AAS88071;AAS88072;AAS88624;AAS88625;AAS88626;AAS88627;AAS88628;AAS88629;AAS88630;AAS88631;AAS88632;AAS88633;AAS88634;AAS88635;AAS88636;AAS88637;AAS88638;AAS88639;AAS88640;AAS88641;AAS88642;AAS88643;AAS88644;AAS88645;AAS88646;AAS88647;AAS88648;AAS88649;AAS88657;AAS88661;AAS88662;AAS88663;AAS88667;AAS88670;AAS88671;AAS88672;AAS88674;AAS88675;AAS88677;AAS88678;AAS88679;AAS88680;AAS88681;AAS88683;AAS88684;AAS88690;AAS88691;AAS88693;BAB14304;BAG63174;CAC34661;DAA04567;EAW80468;EAW80469;EAW80470;NP_001166045;NP_001166046;NP_078872;Q8NEM0 Hs.656769;Hs.708770 1653114;1656759;1676612;1676736;1696300;1707412;1713147;1721979;1724167;1755763;1765359;2137994;2139384;2140366;2149054;2164586;2171456;2186109;2186904;2187306;5015861;5020645;5022651;7185938 A004X20;D10S16;D11S2921;D8S1413E;D8S1935;D8S2077;G19225;G59875;G66160;RH120360;RH121218;RH47768;RH48380;RH69270;RH75428;RH93262;SHGC-142612;SHGC-148851;SHGC-36472;SHGC-77726;SHGC-84494;STS-AA011655;WIAF-2168 BRIT1;FLJ12847;MCT BRCT-repeat inhibitor of TERT expression 1;OTTHUMP00000224448;OTTHUMP00000224501;OTTHUMP00000224562;microcephalin;microcephaly, primary autosomal recessive 1 APPROVED protein-coding ENSG00000147316 6954 06174 251200;607117 REVIEWED 1353447 MDCR Miller-Dieker syndrome chromosome region 4186 6964 1603987 MCTP2 multiple C2 domains, transmembrane 2 15 15 15 q26.2 71256603 71442889 + 92642499 92823267 + 94841430 95027181 + 6480464 15528213;19223264;18367154;16344560;15342556;14702039;12477932;19483685;20379614;21658281;21832049;21139048;23028342;23362303;20125193 55784 F5H415;Q6DN12 ABBA01032434;ABBA01032435;ABBA01032436;AC103749;AC135626;AK001953;AK002037;AK026984;AK090622;AK300325;AL360258;AL697863;AL832048;AL832717;AMYH01006944;AMYH01006945;AMYH01006946;AY656717;BC025708;BC041387;BC111024;BC131527;BP292512;DA450908;DA862691;FJ515839;NM_001159643;NM_001159644;NM_018349 AAH25708;AAH41387;AAI11025;AAI31528;AAT73060;ACS13731;ACS13732;BAA91998;BAA92048;BAH13258;CAB96177;NP_001153115;NP_001153116;NP_060819;Q6DN12 Hs.33368 1338561;1338593;1649089;1714037;1714069;2131023;2131195;2170083;2187438;5128449 D15S1038;D15S816;G10401;G31452;RH119450;RH119638;RH46429;SHGC-132623;SHGC-36666;SHGC-36676 FLJ11175;FLJ33303;MGC111402 OTTHUMP00000246832;multiple C2 and transmembrane domain-containing protein 2;multiple C2-domains with two transmembrane regions 2 1 protein-coding ENSG00000140563 25636 07738 VALIDATED 1323153 MCRS1 microspherule protein 1 12 12 q13.12 48238352 48248178 - 49952085 49961911 - 1580863;6480464 18922472;11948183;14667819;15231747;16189514;17353931;9765390;19187526;17109818;17081983;17014843;16964243;16571602;16565220;16547491;16186106;15489334;15345747;15044100;12477932;22609355;9654073;20479123;15960975;19060904;19549253;18798870;15829507;21303910;21533551;22990118;23069210;17721549;20360068;22081094;22563078;21139048;21906983;18029348;22994740;22773039;22975844;23455924;23225332 10445 F8VP44;F8VVA6;F8VZC2;F8W0I9;F8W126;H0YI67;H0YIA0;Q7Z372;Q96EZ8 ABBA01031528;AC020612;AF015308;AF068007;AK308581;AMYH01004445;AY336730;BC011794;BX538079;CH471111;HY078747;NM_001012300;NM_001278341;NM_006337;R66413 AAC52086;AAC68599;AAH11794;AAQ84517;ABM83813;ABW03528;CAD98003;EAW58075;EAW58076;EAW58077;EAW58078;EAW58079;EAW58080;NP_001012300;NP_001265270;NP_006328;Q96EZ8 Hs.25313 1648320;1658299;2108819;2118547;5127359 MCRS1_9110;RH41888;RH77809;STS-AA099057;STS-F09935 ICP22BP;INO80Q;MCRS2;MSP58;P78 58 kDa microspherule protein;INO80 complex subunit J;INO80 complex subunit Q;OTTHUMP00000241702;OTTHUMP00000241703;OTTHUMP00000241706;OTTHUMP00000242564;cell cycle-regulated factor (78 kDa);cell cycle-regulated factor p78;microspherule protein 1 protein-coding ENSG00000187778 6960 11298 609504 VALIDATED 1349094 MCUR1 mitochondrial calcium uniporter regulator 1 6 6 6 p23 15030815 15054586 - 13898999 13922768 - 13786781 13814792 - 6480464 16344560;14702039;12477932;15342556;20877624;23178883 63933 Q96AQ8 ABBA01022132;ABBA01022133;AI309194;AK024611;AK123750;AL023583;AMYH01016097;BC008234;BC016850;BP382285;BX640678;CH471087;DA892975;NM_001031713 AAH08234;AAH16850;BAB14934;EAW55346;EAW55347;EAW55348;NP_001026883;Q96AQ8 Hs.214043 1684377;1739761;1754409;1856962;2145788;5014063;5015959;5022651 D10S2448;D11S2921;D15S1390;D1S2504E;RH16354;RH99047;SHGC-132423;SHGC-31321 C6orf79;CCDC90A;FLJ20958 OTTHUMP00000016056;chromosome 6 open reading frame 79;coiled-coil domain containing 90A;coiled-coil domain-containing protein 90A, mitochondrial;mitochondrial calcium uniporter regulator 1 APPROVED protein-coding 21097 12833 VALIDATED 1315985 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 6 6 6 p21 39155326 39220811 - 37708262 37773744 - 37600284 37665766 - 1580863;6480464 22889411;15019943;15922729;18384059;16335952;14702039;12082541;21146959;20036297;20379614 266727 D6RFG6;D6RHU8;H0Y4Q2;H0YA23;J3KNB7;Q8NFP4 ABBA01038287;ABBA01038288;AF478693;AK055376;AK090677;AK091149;AK091650;AK092308;AK126965;AL049553;AMYH01016284;BX647180;BX647253;CH471081;NM_153487 AAI52818;AAI56660;AAM77220;BAC03502;EAX03950;EAX03951;EAX03952;EAX03953;EAX03954;NP_705691;Q8NFP4 Hs.437993 1675919;1777802;2107339;2184430 MDGA1__7387;RH12822;RH98646;STS-H99490 DKFZp686K0262;DKFZp686L0262;FLJ45018;GPIM;MAMDC3 GPI and MAM protein;MAM domain-containing glycosylphosphatidylinositol anchor protein 1;MAM domain-containing protein 3;OTTHUMP00000016331;OTTHUMP00000016332;glycosyl-phosphatidyl-inositol-MAM;glycosylphosphatidylinositol-MAM protein-coding ENSG00000112139 19267 14374 609626 VALIDATED 1343502 MCU mitochondrial calcium uniporter This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 10 10 10 q22.1 67737028 67932591 + 74121895 74317458 + 74451889 74647452 + 6480464;7204696 22850819 15489334;12477932;23400777;20877624;18614015;21685886;21685888;21934651;22123069;22605770;22672876;22939629;20186120;22904319;21139048;21906983;19322201;18029348;23602897 90550 Q8NE86 ABBA01020345;ABBA01020346;ABBA01020347;ABBA01020348;ABBA01020349;ABBA01020350;AC016542;AC069548;AK025699;AK075439;AK128016;AK301475;AK310455;AK311133;AK315519;AMYH01002824;BC010682;BC034235;CH471083;HY146050;NM_001270679;NM_001270680;NM_138357;NR_073062 AAH10682;AAH34235;ADZ15882;BAG37900;BAG54619;BAG62992;EAW54460;EAW54461;EAW54462;NP_001257608;NP_001257609;NP_612366;Q8NE86 Hs.591366 1646999;1668017;1777114;2124416;2128283;5020575 AFMa066ya9;RH138309;RH44569;RH44656;SHGC-33194;SHGC-36107 C10orf42;CCDC109A;FLJ46135 OTTHUMP00000019789;OTTHUMP00000019790;calcium uniporter protein, mitochondrial;coiled-coil domain containing 109A;coiled-coil domain-containing protein 109A APPROVED protein-coding ENSG00000156026 23526 10696 614197 REVIEWED 1351081 MCTS1 malignant T cell amplified sequence 1 X X q24 119621863 119630270 + 119737744 119755014 + 1580863;6480464 9766643;19372582;18824261;15342556;14702039;12938157;12637315;12477932;11709712;8889548;7566098;16169070;20823576;20076993;17207965;20658178;17549794;21138557;22939629;22863883;22336915;21139048;21890473;21963094;23000965;23258846 28985 Q8NHH5;Q9ULC4 AA375691;AB034206;ABBA01036051;ABBA01036052;ABBA01049573;ABBA01049574;AC011890;AF456465;AK096956;AK294834;AK311993;AMYH01022918;AW957695;AY364258;BC001013;BC095461;BM671542;BP226595;CH471107;NM_001137554;NM_014060 AAH01013;AAH95461;AAM50513;AAQ76817;ADQ33199;BAA86055;BAG34931;BAG57943;EAX11874;EAX11875;NP_001131026;NP_054779;Q9ULC4 Hs.102696;Hs.670803 1777979;5015881;5016478;5021872;5022578;5022651;5024605;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279;DXS8324;GDB:335751;GDB:434012;RH75489;sY3084 FLJ39637;MCT-1;MCT1 OTTHUMP00000023950;OTTHUMP00000023951;malignant T cell-amplified sequence 1;malignant T-cell-amplified sequence 1;multiple copies T-cell malignancies protein-coding 23357 06634 300587 VALIDATED 1348817 MDC1 mediator of DNA-damage checkpoint 1 The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008] 6 6 p21.3 30775563 30793437 - 30667584 30685458 - 1580863;6480464 18001824;18029348;12556884;12607003;15604234;19074885;19001859;18986980;18757370;18678890;18664457;18635967;18583988;18582474;18471438;18411307;19505873;22635276;18173747;18001825;17977515;17925396;17827148;17546051;17535811;17525332;17158742;17081983;16427010;16377563;16186822;16051665;16049003;16009723;15734998;15377652;15302935;15279781;15201865;14695167;14574404;14519663;12611903;12607005;12607004;12551934;12499369;12477932;12475977;10975465;8724849;14578343;20460517;20521098;21482717;21148072;20587610;16901786;17577209;17884766;19638463;19690177;19797077;19804756;19826003;19851445;20081839;20159462;20529673;16872911;19759913;20729195;19394292;20364298;21784059;21857162;22990118;20224574;22860035;23115235;23145133;20394854;18006705;22962268;22942284;21622030;21551225;20023648;22586326;21853275;19322201;21676867;22108332;22211259;21139048;21890473;21906983;15784679;22234878;22661229;22661230;19471022;22273583;23230272;23382691;20813677;15569676;19766185;21293379;22677490 9656 A1Z5I7;A1Z5I9;A2AB05;A2AB06;A2AB07;H0Y6Z8;Q2TAZ4 AB088099;AB202097;ABBA01038054;AK298749;AK302434;AL662797;AL662848;AL845353;AMYH01016206;AMYH01016207;BA000025;BC110645;BC131491;BC152556;BU621433;BX248307;BX927283;CH471081;CR749828;CR759873;CR788240;CR936878;D79992;EF177820;EF177821;EF177822;EF177823;NM_014641 AAI10646;AAI52557;ABM47418;ABM47419;ABM47420;ABM47421;BAA11487;BAB63322;BAC54931;BAE78617;BAG60892;BAG63736;CAH18685;EAX03321;NP_055456;Q14676 Hs.653495 1671884;1759801;1774625;2126831 RH25387;RH36324;SHGC-170044;WI-15445 DKFZp781A0122;KIAA0170;MGC166888;NFBD1 OTTHUMP00000029090;homologue to Drosophila photoreceptor protein calphotin;mediator of DNA damage checkpoint 1;mediator of DNA damage checkpoint protein 1;nuclear factor with BRCT domains 1 APPROVED protein-coding ENSG00000137337 21163 16252 607593 REVIEWED 1607030 MDFIC MyoD family inhibitor domain containing This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 7 7 q31.1-q31.2 114349445 114446501 + 114562209 114659970 + 6480464 12944466;10671520;16260749;12192039;19428567;12477932;11139147;12370022;17064770;17289077;19041912;19582149;20379614;20417616;21401918;22939629;18029348 29969 C9J104;C9J784;H7BZY3;H7C4B9;J3KN13;Q9P1T7 AA406528;AACC02000001;ABBA01057825;AC017003;AF054589;AI668639;AMYH01017876;AY196485;BC040713;CB048531;CH236947;CH471070;NG_029463;NM_001166345;NM_001166346;NM_199072 AAF36998;AAF36999;AAI56447;AAP33842;EAW83487;NP_001159817;NP_001159818;NP_951038;Q9P1T7 Hs.741413 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104843;REN104844;REN104845;REN104846;REN104847;REN104848;REN104849;REN104850;REN104851;REN104852;REN104853;REN104854;REN104855;REN104856;REN104857;REN104858;REN104859;REN104860;REN104861;REN104862;REN104863;REN104864;REN104865;REN104866;REN104867;REN104868;REN104869;REN104870;REN104871;REN104872;REN104873;REN104874;RH36905;RH91352;RH92125;WI-17702;stSG611689;stSG611691;stSG611692;stSG611693;stSG611694;stSG611695;stSG611696;stSG611697;stSG611698;stSG611699;stSG611700;stSG611701;stSG611702;stSG611703;stSG611704;stSG611705;stSG611706;stSG611707;stSG611708;stSG611709;stSG611710;stSG611711;stSG611712;stSG611713;stSG611714;stSG611715;stSG611716;stSG611717;stSG611718;stSG611719;stSG611720;stSG611721;stSG611722;stSG611723;stSG611724;stSG611725;stSG611726;stSG611727;stSG611728;stSG611729;stSG611730;stSG611731;stSG611732;stSG611733;stSG611734;stSG611735;stSG611736;stSG611737;stSG611738;stSG611739;stSG611740;stSG611741;stSG611742;stSG611743;stSG611744;stSG611745;stSG611746;stSG611747;stSG611748;stSG611749;stSG611750;stSG611751;stSG611752;stSG611753;stSG611754;stSG611755;stSG611756;stSG611757;stSG611758;stSG611759;stSG611760;stSG611761;stSG611762;stSG611764 HIC I-mfa domain-containing protein;OTTHUMP00000025265;OTTHUMP00000206391;OTTHUMP00000220850;myoD family inhibitor domain-containing protein APPROVED protein-coding ENSG00000135272 28870 17103 614511 REVIEWED 1353332 MDFI MyoD family inhibitor This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008] 6 6 6 p21 43159635 43175423 + 41714231 41729959 + 41606195 41621982 + 1580863;6480464 16189514;8797820;17289077;16713569;15489334;15207726;14574404;14530267;12477932;12107410;11238923;9799236;9250874;19060904;19447967;19850743;21664411;23088713;22632162 4188 B1AKB6;B1AKB7;B1AKB8;B1AKB9;B1AKC0;B1AKC1;Q99750 ABBA01050751;ABBA01050752;AK290735;AL035588;AMYH01016296;BC007836;BG818571;CA393148;CH471081;NM_005586;U78313 AAB39748;AAH07836;ADZ15682;BAF83424;EAX04051;EAX04052;EAX04053;NP_005577;Q99750 Hs.520119 1796316;1799844;1800898;1802830;1805644;1815214;1818414;1818470;1819964;1824936;1826646;1827454;1827856;1828210;1828424;1828586;1829360;1833110;1836040;1838614;1978838;1978840;1978842;1978844;1978846;1978848;1978850;1978852;1978854;1978856;1978858;1978860;1978862;1978864;1978866;1978868;1978870;1978872;1978874;1978876;1978878;1978880;1978882;1978884;1978886;1978888;1978890;1978892;1978894;1978896;1978898;1978900;1978902;1978904;1978906;1978908;1978910;1978912;1978914;1978916;1978918;1978920;1978922;1978924;1978926;1978928;1978930;1978932;1978934;1978936;1978938;1978940;1978942;1978944;1978946;1978948;1978950;1978952;1978954;1978956;1978958;1978960;1978962;1978964;1978966;1978968;1978970;1978972;1978974;1978976;1978978;1978980;1978982;1978984;1978986;1978988;1978990;1978992;1978994;2129145;2216068;2216070;2216072;2216074;2216076;2216078;2216080;2216082;2216084 ECD00776;ECD01314;ECD02303;ECD03772;ECD08642;ECD10265;ECD10296;ECD11053;ECD13567;ECD14437;ECD14843;ECD15051;ECD15230;ECD15338;ECD15420;ECD15811;ECD17697;ECD19181;ECD20481;MDFI_463;REN60309;REN60310;REN60311;REN60312;REN60313;REN60314;REN60315;REN60316;REN60317;REN60318;REN60319;REN60320;REN60321;REN60322;REN60323;REN60324;REN60325;REN60326;REN60327;REN60328;REN60329;REN60330;REN60331;REN60332;REN60333;REN60334;REN60335;REN60336;REN60337;REN60338;REN60339;REN60340;REN60341;REN60342;REN60343;REN60344;REN60345;REN60346;REN60347;REN60348;REN60349;REN60350;REN60351;REN60352;REN60353;REN60354;REN60355;REN60356;REN60357;REN60358;REN60359;REN60360;REN60361;REN60362;REN60363;REN60364;REN60365;REN60366;REN60367;REN60368;REN60369;REN60370;REN60371;REN60372;REN60373;REN60374;REN60375;REN60376;REN60377;REN60378;REN60379;REN60380;REN60381;REN60382;REN60383;REN60384;REN60385;REN60386;REN60387;WIAF-2075;stSG634898;stSG634899;stSG634900;stSG634901;stSG634902;stSG634905;stSG634907;stSG634908;stSG634909 I-MF;I-mfa OTTHUMP00000016375;OTTHUMP00000016376;OTTHUMP00000043543;OTTHUMP00000196103;OTTHUMP00000196104;OTTHUMP00000196105;OTTHUMP00000196414;OTTHUMP00000196415;inhibitor of MyoD family a;myoD family inhibitor;myogenic repressor I-mf APPROVED protein-coding ENSG00000112559 6967 07280 604971 REVIEWED 1317321 MDH1B malate dehydrogenase 1B, NAD (soluble) 2 2 2 q33.3 201363918 201391481 - 207310732 207338295 - 207602487 207630050 - 6480464 12477932;20379614 130752 B4DY40;C9JER5;Q5I0G3 ABBA01062666;ABBA01062667;AC008269;AK058070;AK292378;AK292386;AK302250;AK308257;AK309144;AMYH01011441;BC033509;BC088356;BI464613;CH471063;NM_001039845 AAH33509;AAH88356;AAX93274;BAF85067;BAF85075;BAG63602;EAW70392;EAW70393;NP_001034934;Q5I0G3 Hs.147816 2115454 RH46229 FLJ25341;RP11-95H11 OTTHUMP00000163839;OTTHUMP00000206519;OTTHUMP00000206520;putative malate dehydrogenase 1B protein-coding ENSG00000138400 17836 14375 VALIDATED 1343433 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14 14 14 q21.3 27169381 28004719 - 46379045 46882145 - 47308826 48144157 - 1580863;6480464 15019943;18029348;18762592;17903294;16344560;14702039;12975309;12508121;12477932;19913121;20628086;19440164;19557195;19997561;20125193;20379614;21542908;22491018;21660437;21399569;22445761;23000965;23251661;23382691;23358245 161357 E9PMG9;F8WE89;G3V5U0;G3V5Z1;H0YJ52;Q7Z553 ABBA01018082;ABBA01018083;ABBA01018084;ABBA01018085;ABBA01018086;ABBA01018087;ABBA01018088;ABBA01018089;ABBA01018090;ABBA01018091;ABBA01018092;ABBA01018093;ABBA01018094;AK123307;AK309211;AL079306;AL157792;AL162551;AL358832;AL359951;AL591771;AMYH01005705;AMYH01005706;AMYH01005707;AY328482;AY358125;AY369208;BC028193;BC142947;BX538065;CH471078;DB041561;DB095976;NM_001113498;NM_182830;NR_103766 AAI60160;AAP97010;AAQ73312;AAQ88492;BAG53887;EAW65772;EAW65773;EAW65774;NP_001106970;NP_878250;Q7Z553 Hs.436380 1336154;1336900;1338901;1339297;1341271;1644930;1648542;1653041;1658492;1667097;1667099;1672012;1703762;1707532;1713959;1718015;1721321;1721635;1731589;1751425;1751733;1756955;1760755;1761235;1768428;1773475;1777773;1783146;2146355;2152324;2170928;2173513;2178335;2179856;2180299;7186774 D14S1009;D14S1239;D14S1277;D14S150;D14S541;D14S595;D14S613;D14S743;D14S748;D14S755;D14S869;D14S88E;D14S976;D22S273;G35646;G36066;G59660;G59828;RH119408;RH122624;RH44884;RH47671;SHGC-105251;SHGC-105707;SHGC-144123;SHGC-144273;SHGC-145243;SHGC-79318;SHGC-83187;SHGC-84575;STS-AA019736;STS-M78666;WI-10389;WI-21509;WIAF-2147 MAMDC1;c14_5286 MAM domain containing 1;MAM domain-containing glycosylphosphatidylinositol anchor protein 2;MAM domain-containing protein 1;OTTHUMP00000028200;OTTHUMP00000179128 protein-coding ENSG00000139915 19835 14352 611128 VALIDATED 732327 MDH1 malate dehydrogenase 1, NAD (soluble) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Nov 2010] 2 2 p13.3 63669626 63687832 + 63815743 63834331 + 1300048;1580863;6480464;6907045 15565635;8786100;19229245;19110265;18996102;15815621;15489334;12477932;10190973;10075524;9799840;7895732;7698769;7151307;3052244;2775751;2449162;16169070;20011630;20029029;18029348;20877624;20602615;18781797;21139048;21890473;21906983;17500595;22939629;16196087;22360420;21044950;16027165;22693256 4190 B8ZZ51;B9A041;C9IZI0;C9JF79;C9JLV6;C9JRL4;F8WFC2;P40925 ABBA01075404;AC016734;AK295931;AK300719;AK307273;AK312331;AMYH01010396;BC001484;BI667299;CB266998;CH471053;CR457405;D55654;NM_001199111;NM_001199112;NM_005917;U20352 AAC16436;AAH01484;AAY14893;BAA09513;BAG35252;BAG62394;BAH12223;CAG33686;EAW99959;EAW99960;EAW99961;EAW99962;EAW99963;NP_001186040;NP_001186041;NP_005908;P40925 Hs.526521 1721459;1734796;1775911;1797144;1858044;2149144 D2S1567E;G59582;MDH1;RH16368;SHGC-31543;WIAF-2167 MDH-s;MDHA;MGC:1375;MOR2 OTTHUMP00000159898;OTTHUMP00000202064;OTTHUMP00000202070;cytosolic malate dehydrogenase;diiodophenylpyruvate reductase;malate dehydrogenase, cytoplasmic;soluble malate dehydrogenase APPROVED protein-coding ENSG00000014641 6970 01100 154200 VALIDATED 69142 MDK midkine (neurite growth-promoting factor 2) This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] 11 11 p11.2 46359194 46361951 + 46402334 46405387 + 1581202;1581200;1582484;1582476;1299187;1582475;1582478;1582488;1580863;6480464;6484113 15734764;15146411;11340082;12127679;10683378;15780085;15450683;9568069 14517843;20431264;22099874;8241100;15489334;15355893;15340161;15201962;15146197;15138367;15050737;14970216;12841873;12579281;12477932;12175547;12147681;12122009;12077357;11925507;11048798;10772929;10212223;9452495;9089390;8694802;8621465;8471163;8406506;2025291;1883381;1768439;1701366;16169070;1639750;9384573;7835084;19409372;19250738;19060126;19016768;18985819;18956201;18851943;18712601;18698021;18682710;18657127;18469519;18422745;18329695;18195496;18176965;17971413;17931612;17845207;17607302;17493173;17451201;17379400;17368428;17267033;17171794;17066487;16895951;16713569;16341674;15897897;15781266;20442752;19112919;19538527;19698107;19728850;20308059;20447063;20350697;20525245;15197188;20544404;20811700;21208277;20511550;20694011;21094842;18476626;20589434;21212259;22669742;20030927;20030935;21233844;22249249;21917682;21787488;21826666;21989914;21900206;22871361;23212314;23224432;22415659;22051879;22417224;22707563;22672821;23243020;23129424;22562257;23553629 4192 C9JHA4;E9PLM6;E9PPJ5;P21741 ABBA01060748;AC116021;AI494596;AK130889;AK308210;AK309963;AMYH01003533;AMYH01003534;BC011704;BF684205;BI915189;BM016739;BM761575;BM887813;BX346163;CH471064;CN266354;CN266369;CN266376;D10604;DQ323888;DQ323889;DQ323890;JA464939;M69148;M94250;NM_001012333;NM_001012334;NM_001270550;NM_001270551;NM_001270552;NM_002391;NR_073039;X55110 AAA58478;AAA59850;AAH11704;ABC55425;ABC55426;ABC55427;ABM84146;ABM87548;BAA01457;CAA38908;CCD35255;EAW68005;NP_001012333;NP_001012334;NP_001257479;NP_001257480;NP_001257481;NP_002382;P21741 Hs.82045 1648159;1795688;2132304;2153584;2180096 D11S4595;DGKZ_1591;MDK;RH12588;SGC33101 ARAP;FLJ27379;MK;NEGF2 ARAP;OTTHUMP00000197041;OTTHUMP00000197042;OTTHUMP00000197043;OTTHUMP00000197044;OTTHUMP00000197045;OTTHUMP00000233051;OTTHUMP00000233088;amphiregulin-associated protein;midgestation and kidney protein;midkine;neurite outgrowth-promoting factor 2;neurite outgrowth-promoting protein;retinoic acid inducible factor APPROVED protein-coding ENSG00000110492 6972 01200 162096 REVIEWED 1352515 MDM1 Mdm1 nuclear protein homolog (mouse) This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 12 12 12 q15 68352374 68390189 - 66974613 67012379 - 68688346 68726161 - 6480464 18805803;16341674;12477932;9110174;8619474;3182840;16344560;22365631 56890 B2RB22;F5H529;F5H804;H0Y301;H0YGX6;Q8TC05 ABBA01026559;AC022511;AF007130;AF267851;AK026745;AK297311;AK314461;AMYH01004560;BC010622;BC022042;BC028355;BC034945;BM787113;CD704611;CH471054;DA958566;NM_001205028;NM_001205029;NM_017440;NM_020128 AAC19149;AAF78952;AAH22042;AAH28355;BAG37069;BAG59777;EAW97183;EAW97184;EAW97185;NP_001191957;NP_001191958;NP_059136;NP_064513;Q8TC05 Hs.655702 1690159;1701106;1797856;2184653 MDM1_1873;RH104181;RH92922;WI-17450 FLJ95264 Mdm4, transformed 3T3 cell double minute 1, p53 binding protein;OTTHUMP00000240160;OTTHUMP00000240161;OTTHUMP00000240163;OTTHUMP00000240165;OTTHUMP00000240166;nuclear protein MDM1;nuclear protein double minute 1 APPROVED protein-coding ENSG00000111554 29917 14376 613813 REVIEWED 1349726 MDRV muscular dystrophy, with rimmed vacuoles 7240710 4195 1339612 D19S894 6978 733026 MDH2 malate dehydrogenase 2, NAD (mitochondrial) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. [provided by RefSeq, Jul 2008] 7 7 cen-q22 75515329 75533867 + 75677393 75695931 + 1582465;1582468;1582470;1300048;1580863;2306828;6480464;6907045 6282622;9753871;16786185;938457 9792662;16740313;6576816;17603759;16751257;15635413;15592455;15489334;14702039;12853948;12477932;11029287;10075524;9792106;8401585;8349677;7698769;7285903;6439716;3591372;2899080;2759092;1602151;1505215;606506;16169070;21145461;21319273;20379614;18029348;20877624;12601813;22939629;16196087;19135240;20849852;21081666;21139048;21890473;21906983;22079093;21628590;21152271;22505724;22944692 4191 E9PDB2;G3XAL0;P40926 ABBA01005903;AC005077;AC006330;AF047470;AK095803;AK290779;AK293460;AK316587;AMYH01017561;BC001917;CH471220;CR536548;DQ402957;NM_005918 AAC03787;AAH01917;AAS07425;AAS07534;ABD77290;ABM84006;ABM87340;BAF83468;BAG38175;BAG53133;BAG56955;CAG38785;EAW71796;EAW71797;EAW71798;NP_005909;P40926 Hs.520967 1667631;1670878;1709388;2117796;2126593;2127355;2128806;2128808;2150018;2152645 A001X26;A002I38;D7S2059E;D7S553E;G19751;GDB:4584955;RH12763;RH78279;SHGC-56100;SHGC-81711 M-MDH;MDH;MGC:3559;MOR1 OTTHUMP00000161017;OTTHUMP00000210118;OTTHUMP00000210119;malate dehydrogenase, mitochondrial APPROVED protein-coding 6971 01099 154100 REVIEWED 1313299 MDM2 MDM2 oncogene, E3 ubiquitin protein ligase This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013] 12 12 q14.3-q15 67488247 67520481 + 69201971 69239320 + 1580863;2293626;2317393;2317412;2317415;2317417;2317397;2317401;2317409;2317361;2317414;2317357;2316186;2317416;2316155;2316156;2317395;6480464;6484113;6907045;7240710 15844214;15777295;1614537;16505435;15619210;15165363;14644432;14555611;19850968;19752772;20019189;19165225;15810085;19450511;16601750;15563574 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4193 A7UKX7;A7UKX8;A7UKY0;E5RHE2;E5RJQ0;E7EMW5;E7EPE2;F5GWH7;F5GZB0;F5GZC3;F5H1M7;F5H4Q8;G3XA89;J3KN53;J3QST1;Q13301;Q8NDW1;Q96DS5;Q9H4C3;Q9H4C5 AA708958;ABBA01026550;AC025423;AF092843;AF092844;AF092845;AF201370;AF201371;AF385322;AF385323;AF385324;AF385325;AF385326;AF385327;AF527840;AJ251943;AJ276888;AJ278975;AJ278976;AJ278977;AJ278978;AJ430612;AJ430613;AJ430614;AJ491698;AJ491699;AJ491700;AJ491701;AJ517838;AJ517839;AJ517840;AJ550516;AJ550517;AJ550518;AJ550519;AJ550520;AK290341;AK312105;AMYH01004562;AMYH01004563;BC006795;BC065505;BC107414;BC152384;BC152390;BE296905;BE930512;BF208689;BT007258;CH471054;EU076746;EU076747;EU076748;EU076749;GQ848196;HM213901;HM213902;HM213903;HM213904;HY174841;JX015379;JX015380;JX015381;JX015382;JX015383;JX015384;JX015385;JX015386;JX015387;JX015388;JX015389;JX015390;JX015391;JX015392;M92424;NG_016708;NM_001145337;NM_001145339;NM_001145340;NM_001278462;NM_002392;U28935;U33199;U33200;U33201;U33202;U33203;U39736;Z12020 AAA60568;AAA75514;AAA75515;AAA75516;AAA75517;AAA75518;AAA82061;AAA82237;AAF42995;AAI48523;AAI52385;AAI52391;AAI53118;AAL13242;AAL13243;AAL13244;AAL13245;AAL13246;AAL13247;AAL40178;AAL40179;AAL40180;AAM78554;AAP35922;ABT17083;ABT17084;ABT17085;ABT17086;ACX31156;AFM80527;AFM80528;AFM80529;AFM80530;AFM80531;AFM80532;AFM80533;AFM80534;AFM80535;AFM80536;AFM80537;AFM80538;AFM80539;AFM80540;BAF83030;BAG35041;CAA78055;CAB64448;CAC07809;CAC07810;CAC07811;CAC07812;CAD23251;CAD23252;CAD36959;CAD36960;CAD36961;CAD36962;CAD57166;CAD57167;CAD57168;CAD79455;CAD79456;CAD79457;CAD79458;CAD79459;EAW97201;EAW97202;EAW97203;EAW97204;EAW97205;EAW97206;EAW97207;EAW97208;EAW97209;EAW97210;EAW97211;EAW97212;EAW97213;EAW97214;NP_001138809;NP_001138811;NP_001138812;NP_001265391;NP_002383;Q00987 Hs.484551;Hs.733536 1643918;1656661;1682005;1689316;1744309;1748319;1748321;1769548;1791292;1791876;1796318;2155513;2185174;5014051;5014427;5120704 D8S2278;G66928;G66929;GDB:371587;GDB:451622;MDM2_1161;PMC100259P1;PMC129072P1;RH11003;RH44942;RH45597;RH45825;RH65828;RH93271;SGC38056;STS-H58373 ACTFS;HDMX;MGC5370;MGC71221;hdm2 E3 ubiquitin-protein ligase Mdm2;HDM2 transcript variant MYO-1;HDM2 transcript variant MYO-18;HDM2 transcript variant MYO-20;HDM2 transcript variant MYO-24;HDM2 transcript variant MYO-25;HDM2 transcript variant MYO-26;HDM2 transcript variant MYO-32;HDM2 transcript variant MYO-4;MDM2 variant FB28;MDM2 variant FB30;Mdm2 p53 binding protein homolog;Mdm2, p53 E3 ubiquitin protein ligase homolog;Mdm2, transformed 3T3 cell double minute 2, p53 binding protein;OTTHUMP00000183488;OTTHUMP00000183489;OTTHUMP00000183490;OTTHUMP00000183492;OTTHUMP00000183494;OTTHUMP00000183495;OTTHUMP00000183496;OTTHUMP00000183497;OTTHUMP00000240280;OTTHUMP00000240285;OTTHUMP00000240290;double minute 2, human homolog of; p53-binding protein;oncoprotein Mdm2;ubiquitin-protein ligase E3 Mdm2 APPROVED protein-coding ENSG00000135679 6973 01272 164785;614401 REVIEWED 1314985 MDN1 MDN1, midasin homolog (yeast) 6 6 6 q15 90772202 90948387 - 90409952 90586163 - 90353231 90529442 - 1580863;6480464;6907045 12102729;17081983;15635413;15302935;14574404;12477932;9205841;19773279;19394292;19762545;23022380;22939629;19596686;19850743;21139048;21549307;21890473;21906983;22586326;23314748;23383273;17400507 23195 M0QXR3;Q5T795;Q9NU22 AB002299;ABBA01040533;ABBA01040534;ABBA01040535;ABBA01040536;ABBA01040537;ABBA01040538;ABBA01040539;AF503925;AK027048;AK098453;AK124025;AK125181;AL096678;AL158813;AL353692;AMYH01016502;AMYH01016503;AMYH01016504;BC014882;BC020432;BC036888;BC040330;CH471051;CR627399;NM_014611 AAH14882;AAM77722;BAA20761;BAC85754;CAH10492;EAW48545;EAW48546;NP_055426;Q9NU22 Hs.529948 1647567;1656587;1666945;1681608;1787842;1791400;1849949;2107341;2111164;5017298 A006O38;D6S482;MDN1__7388;PMC109273P2;RH35920;RH46864;RH66597;RH99130;SHGC-132631;SHGC-36736 DKFZp686H16106;FLJ23395;FLJ25587;FLJ42031;FLJ43191;KIAA0301 MIDAS-containing protein;OTTHUMP00000016865;midasin protein-coding ENSG00000112159 18302 10069 PROVISIONAL 1319584 MDM4 Mdm4 p53 binding protein homolog (mouse) This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011] 1 1 q32 202752134 202786349 + 204485507 204527248 + 1580863;2316155;2316156;6480464;6484113;6907045 19450511;16601750 10469568;10608892;12101245;14660608;9226370;19497887;19470478;19305137;19255450;19153082;19084022;19075013;18826207;18785023;18677113;18644346;18451213;18356162;18335186;18279506;18172009;18086887;17651783;17616658;17159902;17110929;17080083;17018606;16943424;16710414;16616333;16510145;16266988;16163388;16082221;16027727;15944197;15907800;15906355;15876864;15788536;15782125;15489334;15199139;14739777;12963717;12860999;12640683;22180099;12532331;12483531;12477932;12393902;12370303;12162806;12107410;11953423;11840567;11840332;11528400;11297540;10218570;8895579;8125298;18485870;18219319;15916963;15735705;19913121;20628086;20677014;20417304;20172729;20713061;11223036;15604276;16511560;16511572;17875722;19507240;19580521;19619542;19721810;19734545;19762336;19838211;20062013;20379614;20520810;19946469;16024788;16227609;21084273;20472715;20819778;20855462;20863813;21081495;20724842;14702039;15342556;21148311;20372076;20333547;21088494;22937789;21832049;23028042;20473904;21541195;17301054;19432880;20190571;12874296;20680659;22825724;21823114;22290440;20657550;21503588;21540763;21572037;21784052;20174603;19683495;21750655;20484049;21910853;21925390;21965653;22120712;23324352;23544013;23671280;10827196;16055726;21075307;22266850;22333590;22374672;22410433;22556425;22493164;20705607;10075736;19273224;19521340;21988832;22807444;22916154;22939624;23277204;22040960;22845047;22490292;22586610;22870278 4194 B4E122;O15151;Q59FS6;Q5T0Y2;Q5T0Y3;Q5T0Y4;Q68DC0 AB209383;ABBA01027439;ABBA01027440;ABBA01027441;ABBA01027442;AF007111;AK097188;AK223228;AK303626;AK304698;AK310607;AK310903;AL512306;AMYH01001663;AY207458;AY923176;AY949028;BC025993;BC067299;BC105106;BC143431;BC143432;BM475824;BP247507;BP334671;BX108199;BX640923;CA395099;CH471067;CR749470;NG_029367;NM_001204171;NM_001204172;NM_001278516;NM_001278517;NM_001278518;NM_001278519;NM_002393;NR_024171 AAB62928;AAH67299;AAI05107;AAO13494;AAX51227;AAY22054;BAD92620;BAD96948;BAG64634;BAG65468;CAE45961;CAH18300;EAW91515;EAW91516;NP_001191100;NP_001191101;NP_001265445;NP_001265446;NP_001265447;NP_001265448;NP_002384;O15151 Hs.497492 1648858;1660810;1685395;1775382;2144757;5015961;5016700;5016781;5020274;5022322;5022578;5024035;5037552;5109281 D11S2560;D13S116;D15S1477;D1S1423;D1S1425;D1S2250;D1S3601;D8S2279;L18441;RH79802;RH80388;SHGC-67307;SHGC-76181;SHGC-76197 DKFZp781B1423;HDMX;MDMX;MGC132766;MRP1 MDM4-related protein 1;Mdm4, transformed 3T3 cell double minute 4, p53 binding protein;OTTHUMP00000034072;double minute 4 homolog;double minute 4 protein;double minute 4, human homolog of; p53-binding protein;mdm2-like p53-binding protein;p53-binding protein Mdm4;protein Mdm4;protein Mdmx APPROVED protein-coding ENSG00000198625 6974 04082 602704 REVIEWED 2304163 MDS2 myelodysplastic syndrome 2 translocation associated 1 1 p36 22283531 22296763 + 23953824 23967056 + 6480464 16710414;12477932;12203785;20700443 259283 Q8NDY4 ABBA01059879;ABBA01059880;AJ310434;AL451000;AMYH01000361;BC041472;BC069164;NR_027042 CAD27416 Hs.523369 5016851 RH80031 RP11-223J15.1 miscrna ENSG00000197880 29633 607305 PREDICTED 1319408 MDS1 myelodysplasia syndrome 1 3 q26 170349580 170864168 - 1580863 16582916;8643684;15489334;12477932;8171026;11552981;12927815 4197 AC007849;AC024099;AC069220;AC074033;AC078985;BC069498;CH471052;CR541866;CR541886;DC347146;NM_004991;U43292;U43293 AAB05839;AAB05840;AAH69498;CAG46664;CAG46684;EAW78549;EAW78550;NP_004982;Q13465;Q6FH90 Hs.659873 MDS1-EVI1;PRDM3 protein-coding 6979 11418 6481322 MEAF6P1 MYST/Esa1-associated factor 6 pseudogene 1 2 210046558 210046794 + 100874045 ABBA01062720;AC013409;AMYH01011457;NG_032529 pseudo 42660 INFERRED 1343918 MEAX myopathy with excessive autophagy 4202 6987 1343734 MEB muscle-eye-brain disease 7240710 9915951 4203 6988 253280;613151;613157 1601722 MDP1 magnesium-dependent phosphatase 1 14 14 14 q12 4547795 4549879 - 23752998 23755081 - 24683143 24685276 - 6480464 12477932;10889041;16670083;15489334;14702039;16344560;17207965;22939629 145553 Q86V88 AA918790;ABBA01061337;AK092821;AK312038;AL096870;AMYH01005610;BC009495;BC046912;BC051382;CB046258;CH471078;DA287183;NM_001199821;NM_001199822;NM_138476 AAH46912;AAH51382;ADQ32179;BAC03984;BAG34975;EAW66060;EAW66061;EAW66062;EAW66063;EAW66064;NP_001186750;NP_001186751;NP_612485;Q86V88 Hs.220963 1646846;1721141;1771358;2107431 D14S853;G59405;NEDD8_7836;WI-15002 FN6Pase;MDP-1;MGC5987 OTTHUMP00000164705;OTTHUMP00000234835;fructosamine-6-phosphatase;magnesium-dependent phosphatase 1 protein-coding ENSG00000213920 28781 14695 VALIDATED 1321157 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009] 18 18 q21 46659433 46728258 + 48405432 48476165 + 1580863;6480464;6907045;7240710 1993674;19066393;17638511;17418816;16344560;16190936;16171388;15532013;14760703;12962632;12665801;12477932;12121650;11401430;11358520;10913357;10700286;10477256;10467136;7757881;7496989;3689803;680703;511162;18029348;19691144;21116278;20877624;20824065;20186120;22586326;23334421 4200 P23368 AB045122;ABBA01018678;ABBA01018679;ABBA01018680;ABBA01018681;AC015864;AC087687;AJ294818;AK313391;AMYH01008999;AU119085;BC000147;BI465083;BI559761;CD370709;CH471096;DA644731;M55905;NG_016198;NM_001168335;NM_002396 AAA36197;AAH00147;BAB40980;BAG36189;CAC14574;EAW62980;EAW62981;EAW62982;NP_001161807;NP_002387;P23368 Hs.233119 1673193;1701122;1729924;1849914;1850140;2168735;2185959;5015867;5016478;5019653;5022578;5037552 A006G43;D18S1338;D18S46;D18S961;D1S1423;D8S2279;G32352;GDB:312714;GDB:434012;RH104189;RH71383;SHGC-36368 ODS1 NAD-ME;NAD-dependent malic enzyme, mitochondrial;OTTHUMP00000163546;malate dehydrogenase;pyruvic-malic carboxylase APPROVED protein-coding 6984 01103 154270;600669;610064 REVIEWED 736133 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008] 6 6 q12 83976827 84197498 - 83920108 84140938 - 1580863;1300048;6480464;6907045 7622060;8187880;18029348;19464998;19293334;18660489;16757477;15489334;14574404;12477932;12121650;11358520;11352855;11085912;9174159;8804575;8125298;7757881;7496989;4689040;3169368;2015102;1088824;16344560;19416979;20877624;23334421;21555518;22863883;22456781;21139048;21890473;21906983;21963094;23284632 4199 B4DZ70;F5H4W0;P48163 A38056;ABBA01040450;ABBA01040451;ABBA01040452;ABBA01040453;ABBA01040454;AJ420574;AK223417;AK289783;AK301875;AK302777;AL049699;AL136970;AL391416;AMYH01016468;AMYH01016469;BC017403;BC025246;BX376125;CH471051;DA520723;L34035;L34809;NM_002395;U43944;X77244 AAB01380;AAC50613;AAD15054;AAH17403;AAH25246;ABM83081;ABW03488;BAD97137;BAF82472;BAG63311;BAG63982;CAA02318;CAA54460;EAW48664;NP_002386;P48163 Hs.21160 1338241;1341531;1674252;1690840;1773966;2130152;2130706;2133410 D6S1020;D6S1235E;D6S2105;D6S391;GDB:313147;RH74979;WI-11126;WI-7362 HUMNDME;MES Malic enzyme, cytoplasmic;NADP-ME;NADP-dependent malic enzyme;OTTHUMP00000016792;malate dehydrogenase;malic enzyme 1;malic enzyme 1, soluble;pyruvic-malic carboxylase APPROVED protein-coding ENSG00000065833 6983 01102 154250 REVIEWED 1346327 MEA1 male-enhanced antigen 1 6 6 6 p21.3-p21.1 44532206 44533859 - 43087943 43089596 - 42979965 42981618 - 1580863;6480464 16189514;2813404;15489334;14574404;12477932;12444059;22863883;22939629;21890473;21628590;19380743 4201 Q16626 AA448322;ABBA01050698;AK309759;AL136304;AMYH01016311;BC001754;BQ232807;BT009831;CH471081;L10400;M27937;NM_014623 AAA36208;AAA36209;AAH01754;AAP88833;EAX04135;NP_055438;Q16626 Hs.278362 1655124;1729049;1797146;2130517;5123583 D6S1897;MEA;RH46598;UniSTS:143850;WI-18871 HYS;MEA MEA-1;Male-enhanced antigen (H-Y structural gene);OTTHUMP00000016417;male-enhanced antigen;male-enhanced antigen 1 protein-coding 6986 00885 143170 VALIDATED 1322332 ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 11 11 11 cen-q22.3 83462760 83694235 - 85829798 86061075 - 86152150 86383678 - 1580863;6480464;6907045 7818469;19236308;18959763;14702039;12477932;8889548;511162;12023963;19416979;20379614;20471030;20800603;20877624 10873 B2R995;B7Z6V0;E9PKA0;E9PMB9;E9PND9;E9PNN2;E9PQP5;Q16798;Q6TCH8;Q8TBJ0 AA403046;AA449933;ABBA01017321;ABBA01017322;AI198184;AI560417;AI948779;AK092181;AK300974;AK313695;AMYH01003851;AP001148;AP001831;AP002492;AY424278;BC022472;BM906572;BQ882896;CB306059;CH471076;DC388623;NM_001014811;NM_001161586;NM_006680;X79440 AAH22472;AAR04784;ABM83306;ABM84211;ABM87616;BAC03822;BAG36442;BAH13386;CAA55956;EAW75138;EAW75139;EAW75140;EAW75141;EAW75142;NP_001014811;NP_001155058;NP_006671;Q16798 Hs.199743 1659306;1673571;1674964;1682982;1756965;1768254;1782402;1782468;1857306;2130425;2173872;2179128;2183443;5491457 D11S360;D11S800;G10364;HSC2HH112;MARC_13809-13810:1046871162:1;RH15865;RH66727;RH92528;SGC31065;SHGC-144137;SHGC-154704;SHGC-156111;WI-16172;WI-21566 FLJ34862;NADP-ME NADP-ME;NADP-dependent malic enzyme, mitochondrial;OTTHUMP00000235498;OTTHUMP00000235499;malate dehydrogenase;malic enzyme, NADP+-dependent, mitochondrial;mitochondrial NADP(+)-dependent malic enzyme 3;pyruvic-malic carboxylase APPROVED protein-coding ENSG00000151376 6985 06862 604626 REVIEWED 1322216 MECOM MDS1 and EVI1 complex locus The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 3 3 q26.2 170283981 170348216 - 168801287 169381563 - 1580863;6480464;6907045 21555002;11328817;17635584;8643684;19385966;19241117;19208846;19010836;18815193;18752846;18619962;18452556;18272813;18262061;18181178;17894555;17693194;17693189;17507183;17243162;17014970;16582916;16342172;16014322;15914564;15897867;15849193;15489334;14555651;12477932;12461752;12393383;11922610;11568182;11313276;11181995;11050005;10856240;9724649;9665135;8700545;8557637;8313895;8171026;2115646;11552981;22488406;22797727;20512145;20634891;20700443;20842122;20532840;14603251;18500823;19352083;19430479;19430483;19605700;19767769;19776757;20084277;20098431;20308656;20357826;20363750;20379614;22610502;18655152;20855866;21289308;22894935;21190993;21872826;23155256;21362509;21636719;21176350;22033412;22887804;23502783;21750091;19322201;22553314;22308434;21782286;21909110;21909115;21946350;22555662;22295105;23212151;23455924;23667531;22161860;23284291;23349225;23509296;22634393;22939622;23008312 2122 C7FEN9;C9JU02;E7EPY2;E7EQ57;E7ERX0;E7EU48;E7EUL6;E9PGE9;H9KVD4;Q13465;Q16122;Q8IU84 AA043944;ABBA01058708;ABBA01058709;ABBA01058710;ABBA01058711;ABBA01058712;ABBA01058713;AC007849;AC024099;AC069220;AC074033;AC078985;AF164154;AF164155;AF164156;AF164157;AF487422;AF487423;AF487424;AK025934;AK292865;AK304098;AK308404;AK310509;AL700380;AMYH01013640;BC012450;BC031019;BC069498;BC130520;BC143951;BC143952;BX484790;BX640908;BX647613;CH471052;CR541866;CR541886;DC347146;DC348381;GQ352634;NG_028279;NM_001105077;NM_001105078;NM_001163999;NM_001164000;NM_001205194;NM_004991;NM_005241;S82592;U43292;U43293;X54989 AAB05839;AAB05840;AAB37456;AAF04008;AAF04009;AAF04010;AAF04011;AAH31019;AAH69498;AAI30521;AAI43952;AAI43953;AAN39687;AAN39688;AAN39689;ACE86801;ACE87488;ACU31119;BAF85554;BAH14103;CAA38735;CAE45952;CAG46664;CAG46684;CAI46086;EAW78549;EAW78550;EAW78552;EAW78553;EAW78554;EAW78555;EAW78556;EAW78557;EAW78558;EAW78559;NP_001098547;NP_001098548;NP_001157471;NP_001157472;NP_001192123;NP_004982;NP_005232;Q03112;Q13465 Hs.744090 1340848;1644247;1659196;1660363;1705860;1713423;1717371;1719239;1719635;1747941;1750127;1756933;1761469;2121158;2130390;2151437;2152172;2181440;5093024;5127666;7189751;7189753 A009E23;D15S1165;D3S1282;G32475;G66892;RH119568;RH122176;RH123340;RH123722;RH36509;RH48013;SGC38138;SHGC-10621;SHGC-112224;SHGC-144103;SHGC-145476;SHGC-2494;SHGC-77512;SHGC-77524;SHGC-81191 AML1-EVI-1;EVI1;MDS1;MDS1-EVI1;MGC163392;MGC97004;PRDM3 AML1-EVI-1 fusion protein;MDS1 and EVI1 complex locus protein EVI1;MDS1 and EVI1 complex locus protein MDS1;OTTHUMP00000213163;OTTHUMP00000213164;OTTHUMP00000213165;OTTHUMP00000213187;OTTHUMP00000213191;OTTHUMP00000213192;ecotropic viral integration site 1;ecotropic virus integration site 1 protein homolog;myelodysplasia syndrome 1 protein;myelodysplasia syndrome-associated protein 1;oncogene EVI1;zinc finger protein Evi1 APPROVED protein-coding ENSG00000085276 3498 01310 165215 REVIEWED 1604318 MEAF6 MYST/Esa1-associated factor 6 This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 1 1 1 p35.3-p33 36236125 36258295 - 37730763 37752951 - 37955561 37980420 - 6480464 16341674;18684714;22318606;22467210;17903294;16710414;16387653;16189514;15647280;15489334;14966270;14702039;12963728;12601173;12477932;9110174;8619474;8125298;16230350;18794358;19060904;19187766;17207965;19454010;18029348;19322201;19471022;22144582;22505724 64769 B1AK63;Q9HAF1 ABBA01023276;ABBA01023277;AK021792;AK225434;AK225598;AK308118;AK309663;AL034379;AMYH01000501;AY007166;AY211926;BC016328;BC043239;BC056406;BM840891;BX386498;BX538212;BX640719;CH471059;DQ099384;NM_001270875;NM_001270876;NM_022756;NR_073090;NR_073091;NR_073092 AAH16328;AAH56406;AAO65179;AAZ13760;ACE86515;ACE87002;ACE87691;ADQ33137;BAB13898;CAD98071;CAE45838;EAX07339;EAX07340;EAX07341;EAX07342;EAX07343;EAX07344;NP_001257804;NP_001257805;NP_073593;Q9HAF1 Hs.17118 1656011;1688326;1688416;1778209;1856269;2126271;2184260;5014003;5015869;5016596;5021872;5024035 D13S116;D17S1136;GDB:313261;GDB:631802;RH69809;RH70456;RH79090;SHGC-32897;SHGC-64322;SHGC-74622;STS-AA001404;sY3084 C1orf149;CDABP0189;CENP-28;Eaf6;FLJ11730;NY-SAR-91;RP3-423B22.2 Esa1p-associated factor 6 homolog;OTTHUMP00000004401;OTTHUMP00000004402;OTTHUMP00000004403;centromere protein 28;chromatin modification-related protein MEAF6;esa1-associated factor 6 homolog;hEAF6;protein EAF6 homolog;sarcoma antigen NY-SAR-91 APPROVED protein-coding 25674 13347 611001 REVIEWED 1349232 MECP2 methyl CpG binding protein 2 (Rett syndrome) DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009] X X q28 152940458 153016323 - 153287264 153363188 - 728918;1601320;1580863;1601318;1601319;6480464;7240710 1606614;11309367;16183801;11214906 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AUTSX3;DKFZp686A24160;MRX16;MRX79;MRXS13;MRXSL;PPMX;RS;RTS;RTT OTTHUMP00000026021;OTTHUMP00000064436;OTTHUMP00000199821;meCp-2 protein;methyl-CpG-binding protein 2;mutant methyl CpG binding protein 2;mutant methyl CpG binding protein 2 transcript 1;mutant methyl CpG binding protein 2 variant 1 APPROVED protein-coding ENSG00000169057 6990 02050 105830;300005;300055;300260;300496;300673;312750 REVIEWED 1606637 MED11 mediator complex subunit 11 MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 17 17 17 p13.2 4649916 4652104 + 4581472 4583645 + 4634723 4636902 + 6480464 12584197;14638676;15175163;12477932;14576168;15989967;21832049;22939629;20133760;18976975 400569 I3L2Q0;I3L3E8;Q9P086 ABBA01054772;AC091153;AF161414;AMYH01008042;BC070377;CH471108;NM_001001683 AAF28974;AAH70377;EAW90417;NP_001001683;Q9P086 Hs.743492 1697918;1699510;2162217 RH102488;RH103349;STS-W86753 HSPC296;MGC88387 mediator of RNA polymerase II transcription subunit 11;mediator of RNA polymerase II transcription, subunit 11 homolog APPROVED protein-coding ENSG00000161920 32687 14709 612383 PROVISIONAL 4110708 MED13P1 mediator complex subunit 13 pseudogene 1 Y Y q11.221 4005720 4005892 + 17019776 17019948 + 9847074 100499481 ABBA01056995;AC017032;NG_023546 pseudo 38733 INFERRED 1351174 MED1 mediator complex subunit 1 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008] 17 17 q12 34814064 34861053 - 37560538 37607527 - 1580863;5128512;6480464 16394250 12130544;12101254;12089346;12082103;11912212;11867769;11840331;11724781;11266503;11118038;10733574;10485914;10478845;10024883;9989412;9653119;9444950;9325263;8710870;7776974;10944516;10508170;15989967;12738788;10198638;10235266;16554032;16799563;12218053;12037571;10235267;19521987;19255064;19243021;19183483;18950845;18660489;18391015;18339625;18003614;17641689;17223341;17117180;17081983;16964243;16934225;16723356;16574658;16314496;16239257;15848166;15572376;15471764;15342556;15302935;15208681;15187081;15175163;15095040;14983011;14638676;14636573;12584197;12562779;12556447;12477932;12356758;12189208;12145330;21454576;20520624;20534441;19913121;20628086;20398753;12796488;15604093;17132730;17478428;19127118;19497978;20160030;16055720;16204234;16396960;16434701;18691967;20473893;10037764;10760302;10770935;10935544;11027271;11117530;11500849;15863722;15886699;15919092;18418385;17786964;17967894;21556051;20133760;20508642;14657022;17082781;17254542;17827210;20098423;21292004;22343046;22939629;10882111;16239144;19766566;21139048;22102282;17468099;22964581;19322201;22331469;21326907;21868449;11438648;22342682;17502350;21729782;21988832;22869146;23275444;23322298;23563140;23824909;19377461 5469 J3KSD7;J3QKZ7;Q15648 ABBA01031867;ABBA01031868;ABBA01031869;ABBA01031870;AC005288;AC009283;AF055994;AF157513;AF283812;AK299789;AK314185;AMYH01008374;AMYH01008375;BC006517;BC060758;BC131783;BP357374;CH471152;L40366;NM_004774;Y13467 AAC39854;AAC41736;AAF98352;AAH06517;AAH60758;AAI31784;ADZ15646;BAG36866;BAG61669;CAA73867;EAW60575;NP_004765;Q15648 Hs.643754 1651854;1664253;1683299;1686851;1746357;1774821;2117170;2117429;2137236;2190949;5096757 G64397;MARC_12057-12058:1004548952:1;PPARBP_2041;RH11014;RH12583;RH47206;RH64892;RH79708;RH91484;SGC32796;SHGC-36242 CRSP1;CRSP200;DRIP205;DRIP230;MGC71488;PBP;PPARBP;PPARGBP;RB18A;TRAP220;TRIP2 ARC205;OTTHUMP00000164284;OTTHUMP00000164285;PPAR binding protein;PPAR-binding protein;PPARG binding protein;TR-interacting protein 2;TRIP-2;activator-recruited cofactor 205 kDa component;mediator of RNA polymerase II transcription subunit 1;p53 regulatory protein RB18A;peroxisome proliferator-activated receptor-binding protein;thyroid hormone receptor-associated protein complex 220 kDa component;thyroid hormone receptor-associated protein complex component TRAP220;thyroid receptor interacting protein 2;thyroid receptor-interacting protein 2;vitamin D receptor-interacting protein 230 kD;vitamin D receptor-interacting protein complex component DRIP205 APPROVED protein-coding 9234 05055 604311 REVIEWED 1604270 MED10 mediator complex subunit 10 MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 5 5 5 p15.31 6397998 6404598 - 6425039 6431639 - 6372039 6378639 - 6480464 16303743;15657623;15334068;15175163;12477932;14638676;14576168;12584197;16169070;10198638;11867769;12101254;15989967;22939629;20133760;10024883;10882111;12149480;21900206;21139048;21890473 84246 Q9BTT4 AA648258;ABBA01016143;AC010635;AC093307;AK075493;AMYH01014878;AY277599;AY453397;AY598325;BC003353;BI597082;CH471102;FJ515848;NM_032286 AAH03353;AAQ18038;AAS47514;AAT06736;ACS13739;EAX08110;NP_115662;Q9BTT4 Hs.13885 1712076;2110569;2129704;2151932 G54086;MGC5309__7724;RH45323;STS-H90053 L6;MGC5309;NUT2;TRG20 OTTHUMP00000220564;TRG-17;TRG-20;mediator of RNA polymerase II transcription subunit 10;mediator of RNA polymerase II transcription subunit 10-like protein;mediator of RNA polymerase II transcription, subunit 10;transformation-related gene 17 protein;transformation-related gene 20 protein APPROVED protein-coding ENSG00000133398 28760 14680 612382 VALIDATED 733084 MECR mitochondrial trans-2-enoyl-CoA reductase 1 1 1 p35.3 27915536 27953607 - 29391972 29430041 - 29519385 29557454 - 6480464 12654921;18479707;16710414;15489334;14702039;12477932;10810093;9795230;8125298;20877624;18029348 51102 H3BM30;Q5SYU3;Q9BV79 ABBA01035080;ABBA01035081;ABBA01035082;AF151821;AK025830;AK095099;AK225687;AK226084;AK300889;AK315274;AL590729;AL711403;AMYH01000442;BC001419;CH471059;CR456703;NM_001024732;NM_016011 AAD34058;AAH01419;ADZ15732;BAG52984;BAG62530;CAG32984;EAX07653;EAX07654;EAX07655;EAX07656;NP_001019903;NP_057095;Q9BV79 Hs.183646 1701196;1854154;2155326 RH104226;SHGC-74499;STS-W47099 CGI-63;FASN2B;NRBF1 NRBF-1;OTTHUMP00000065098;OTTHUMP00000065099;OTTHUMP00000065100;homolog of yeast 2-enoyl thioester reductase;hsNrbf-1;mitochondrial 2-enoyl thioester reductase;nuclear receptor binding factor 1;nuclear receptor-binding factor 1;trans-2-enoyl-CoA reductase, mitochondrial protein-coding ENSG00000116353 19691 12192 608205 VALIDATED 6481333 MED14-AS1 MED14 antisense RNA 1 100873985 AC092474 APPROVED miscrna 40162 1343255 MED14P1 mediator complex subunit 14 pseudogene 1 Y Y Y q11.1 1724204 1739619 - 13240212 13255827 - 14730917 14746332 - 12815422 359791 ABBA01065629;ABBA01065630;ABBA01065631;ABBA01065632;AC004617;AC004810;NG_002807 1746055;2188307;2188317;5114641 DYS388;G49203;G66186;G66192 CRSP2P;CXorf4P;MED14P APPROVED pseudo 2371 INFERRED 1343143 MED15P1 mediator complex subunit 15 pseudogene 1 14 14 q11.2 18567920 18572484 - 19498019 19502383 - 326615 ABBA01165217;AL512624;AMYH01005470;NG_002605 MED15P;PCQAPP APPROVED pseudo 19271 INFERRED 7245855 MED15P4 mediator complex subunit 15 pseudogene 4 100127989 ABBA01028229;AC093838;AMYH01011102;CH471058;NG_023317 EAX11691 pseudo 48653 VALIDATED 7245927 MED15P5 mediator complex subunit 15 pseudogene 5 391436 ABBA01017954;AC068137;AC134915;AMYH01011053;NG_021585 pseudo 48654 INFERRED 7245835 MED15P6 mediator complex subunit 15 pseudogene 6 100996438 AL929601 pseudo 48655 MODEL 7245656 MED15P7 mediator complex subunit 15 pseudogene 7 100996466 AMYH01012373;AMYH01012374;AMYH01012375;AMYH01012376;AMYH01012377;AMYH01012378;AMYH01012379;AMYH01012380;AMYH01012381;AMYH01012382;AMYH01012383;AMYH01012384;AP000530;AP000531;CR545463 pseudo 48656 MODEL 1352033 MED12L mediator complex subunit 12-like The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010] 3 3 3 q25.1 149217541 149572796 + 152287366 152634500 + 150804676 151154465 + 6480464 14702039;12477932;11524702;10997877;20379614;19762545;19913121;20628086 116931 F8WAE6;H7C4I9;Q86YW9 AB046855;ABBA01058908;ABBA01058909;ABBA01058910;ABBA01058911;ABBA01058912;ABBA01058913;AC024886;AC078816;AC108726;AF087980;AF090917;AF388364;AF388365;AF399708;AK022714;AK124913;AK128165;AMYH01013579;AMYH01013580;BC144559;BX108326;CH471052;NG_021244;NM_053002 AAF24035;AAI44560;AAI72368;AAL09579;AAL09580;AAO38813;BAB13461;BAB14198;BAG54642;EAW78800;EAW78801;EAW78802;NP_443728;Q86YW9 Hs.744234 1337856;1338430;1340218;1655063;1666156;1668325;1686780;1687534;1699070;1723147;1729369;1729373;1729375;1729387;1729389;1729391;1729393;1729395;1729397;1729399;1729401;1729403;1729405;1729407;1729409;1759119;1773219;1784790;1793096;1794608;1794610;1851324;2106483;2107705;2113728;2121281;2127857;2187575;2219420;5100332;7186207 AB062981;D3S1279;D3S1594;D3S3625;D3S3817;D3S3882;D3S4238;G54346;G54348;G54349;G54357;G54358;G54359;G54360;G54361;G54362;G54363;G54365;G54366;G54368;G54369;G54370;G54371;GPR86_4097;P2RY12__5801;PMC196132P2;PMC328092P1;PMC328092P2;RH103111;RH123758;RH25242;RH91840;RH98359;SHGC-13689;SHGC-151126;SHGC-155106;SHGC-44399;STS-D13626;TRALPUSH__5128;WI-14128 FLJ46288;KIAA1635;NOPAR;TNRC11L;TRALP;TRALPUSH OTTHUMP00000216726;OTTHUMP00000216773;mediator of RNA polymerase II transcription subunit 12-like protein;mediator of RNA polymerase II transcription, subunit 12 homolog-like;no opposite paired repeat protein;thyroid hormone receptor-associated-like protein;trinucleotide repeat-containing gene 11 protein-like APPROVED protein-coding ENSG00000144893 16050 10278 611318 REVIEWED 1350145 MED12 mediator complex subunit 12 The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009] X X q13 70255131 70279029 + 70338406 70362304 + 1358728;6480464;7240710 12216017 22223266;10198638;10235266;11984006;12218053;12037571;18029348;10235267;19240132;19047373;18973276;18691967;17716226;17369503;17334363;17299734;17088561;17081983;16565090;16538184;16344560;16109376;15175163;15108174;14638676;12860370;12777533;12627458;12612078;12584197;12477932;12136106;11840515;11524702;11424983;10480376;9702738;9375929;9225980;8889548;8781769;8724849;8710870;11867769;12660246;14636573;18418385;15989967;17000779;19036726;20507344;17967894;22939629;23178117;20133760;20508642;21293490;23091001;10882111;15717329;16799563;19596686;11834832;14657022;20098423;21868628;22586326;21987572;23395478;22182697;17110338;21729782;21963094;23132392;21139048;21890473;22428002;20720539;20301719;23563140;23225304;22532225;23275444;23322298;22505724;22768200 9968 H0Y6W6;H0Y7P1;H7C191;H7C274;Q93074 AB102551;AB102552;AB102553;AB102554;AB102555;AB102556;AB102557;AB102558;AB102559;AB102560;AB102561;AB102562;AB102563;AB102564;AB102565;AB102566;AB102567;AB102568;AB102569;AB102570;AB102581;AB102582;AB102583;AB102584;AB102585;AB102586;AB102587;AB102588;AB102589;AB102590;AB102591;AB102592;AB102593;AB102594;AB102595;AB102596;AB102597;AB102598;AB102599;AB102600;AB102611;AB102612;AB102613;AB102614;AB102615;AB102616;AB102617;AB102618;AB102619;AB102620;AB102621;AB102622;AB102623;AB102624;AB102625;AB102626;AB102627;AB102628;AB102629;AB102630;AB102668;ABBA01067668;ABBA01067669;ABBA01067670;ABBA01067671;ABBA01067672;ABBA01067673;ABBA01067674;AF071309;AF132033;AJ306428;AK302543;AL590764;AMYH01022534;BM662470;CH471132;D83783;DB069668;FN430679;NG_012808;NM_005120;U23863;U80742 AAB91440;AAC83163;AAD44162;AAI56137;AAI56979;BAA12112;BAC81020;BAC81021;BAC81022;BAC81023;BAC81024;BAC81025;BAC81026;BAC81027;BAC81028;BAC81029;BAC81030;BAC81031;BAC81032;BAC81033;BAC81034;BAC81035;BAC81036;BAC81037;BAC81038;BAC81039;BAC81050;BAC81051;BAC81052;BAC81053;BAC81054;BAC81055;BAC81056;BAC81057;BAC81058;BAC81059;BAC81060;BAC81061;BAC81062;BAC81063;BAC81064;BAC81065;BAC81066;BAC81067;BAC81068;BAC81069;BAC81080;BAC81081;BAC81082;BAC81083;BAC81084;BAC81085;BAC81086;BAC81087;BAC81088;BAC81089;BAC81090;BAC81091;BAC81092;BAC81093;BAC81094;BAC81095;BAC81096;BAC81097;BAC81098;BAC81099;BAC81137;BAG63815;CAC84084;CAZ90628;EAX05314;EAX05315;EAX05316;EAX05317;EAX05318;NP_005111;Q93074 Hs.409226 1675393;1703024;2132391;5119174 DXS441;DXS7537;RH25405;RH79662 ARC240;CAGH45;FGS1;HOPA;KIAA0192;MED12S;OHDOX;OKS;OPA1;TNRC11;TRAP230 CAG repeat protein 45;OPA-containing protein;OTTHUMP00000023490;OTTHUMP00000023491;OTTHUMP00000023493;activator-recruited cofactor 240 kDa component;human opposite paired;mediator of RNA polymerase II transcription subunit 12;mediator of RNA polymerase II transcription, subunit 12 homolog;mediator of rna polymerase ii transcription, subunit 12 homolog (yeast);putative mediator subunit 12;thyroid hormone receptor-associated protein complex 230 kDa component;thyroid hormone receptor-associated protein, 230 kDa subunit;trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit);trinucleotide repeat-containing gene 11 protein APPROVED protein-coding ENSG00000184634 11957 02176 300188;300895;305450;309520 REVIEWED 1314183 MED13L mediator complex subunit 13-like The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010] 12 12 12 q24.21 116025985 116344576 - 114880764 115199526 - 116396381 116714991 - 1580649;6480464;7240710 14638541 15175163;15145061;14702039;12477932;12168954;10470851;20379614;22249253;21761138;21906983 23389 F8VRB8;H0YHC1;H0YIQ7;H0YIQ9;Q71F56 AB028948;ABBA01019997;ABBA01019998;ABBA01019999;ABBA01020000;ABBA01020001;ABBA01020002;ABBA01020003;AC009321;AC012157;AC026334;AC060226;AC130895;AF515599;AK023837;AK025280;AK127706;AL133033;AL137644;AMYH01004775;AY338463;BC038768;BC130422;CH471054;CR749332;NG_023366;NM_015335 AAI30423;AAQ08182;AAR08418;BAA82977;BAB14697;BAB15103;CAB61363;CAB70855;CAH18186;EAW98081;NP_056150;Q71F56 Hs.603766 1648276;1663826;1680952;1682379;1710314;1712414;1712522;1713689;1716661;1717359;1739135;1746609;1746643;1754533;2124967;2140524;2148062;2157009;2159084;2181735;5093942;5094078 A009F32;A009Z17;D12S1112;D12S1357;G33014;G34960;G54211;G54241;G64563;G64564;RH120727;RH121588;RH122170;RH1606;RH46450;RH80999;SGC38179;SHGC-132816;SHGC-52532;SHGC-82396;STS-Z40829;WI-16346 DKFZp781D0112;FLJ21627;KIAA1025;PROSIT240;THRAP2;TRAP240L OTTHUMP00000241000;mediator of RNA polymerase II transcription subunit 13-like;thyroid hormone receptor associated protein 2;thyroid hormone receptor-associated protein 2;thyroid hormone receptor-associated protein complex 240 kDa component-like APPROVED protein-coding ENSG00000123066 22962 10579 608771;608808 REVIEWED 1347067 MED18 mediator complex subunit 18 MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 1 1 1 p35.3 27051267 27058232 + 28528136 28535063 + 28655513 28662478 + 737633;1580863;6480464 12477932 22939629;12584197;14638676;16344560;15175163;14576168;15989967;18250152;23275444;20133760;20508642;21139048;21906983;22622162 54797 Q9BUE0 AB107222;ABBA01035021;AK000052;AK296130;AL353622;AMYH01000427;BC002694;BG752399;CH471059;DA090416;NM_001127350;NM_017638 AAH02694;BAA90910;BAD06869;BAG58875;EAX07699;EAX07700;EAX07701;EAX07702;NP_001120822;NP_060108;Q9BUE0 Hs.479911 1698200;5117897 GDB:631813;RH102636 FLJ20045;p28b OTTHUMP00000003645;TRAP/mediator complex subunit p28b;mediator of RNA polymerase II transcription subunit 18;mediator of RNA polymerase II transcription, subunit 18 homolog;mediator of rna polymerase ii transcription, subunit 18 homolog (yeast) APPROVED protein-coding ENSG00000130772 25944 17476 612384 VALIDATED 1344644 MED19 mediator complex subunit 19 MED19 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008] 11 11 11 q12.1 54827666 54836153 - 57227762 57236249 - 57471186 57479673 - 737633;6480464 12477932 19049968;15175163;14638676;12584197;9417904;16169070;14576168;15989967;21542455;21306606;20133760;20890603;21832049;21372827;21871180;21519921;18029348;22565189;21732059;21729782;21988832;23098456;23322298;23076562;21478038;23563140;18976975 219541 A0JLT2;J3KR33 ABBA01021475;AMYH01003653;AP000662;AY148462;BC009723;BC037223;CH471076;NM_153450;U92995 A0JLT2;AAH09723;AAH37223;AAN16075;EAW73774;EAW73775;EAW73776;NP_703151 Hs.43619 1682848;1685612 RH79721;RH80430 DT2P1G7;LCMR1 OTTHUMP00000235465;lung cancer metastasis-related protein 1;mediator of RNA polymerase II transcription subunit 19;mediator of RNA polymerase II transcription, subunit 19 homolog APPROVED protein-coding ENSG00000156603 29600 17477 612385 PROVISIONAL 1312495 MED13 mediator complex subunit 13 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008] 17 17 q22-q23 57374748 57497425 - 60019966 60142643 - 1580863;6480464 10198638;10235266;12218053;12037571;10235267;19240132;17081983;15896744;15342556;15302935;15175163;15146197;14702039;12477932;12150923;12050112;11834832;11454195;11042152;10024883;9628581;8710870;11867769;15208681;14638676;12421765;15989967;19730683;20379614;18418385;23322298;17967894;20133760;20508642;22939629;14657022;20098423;10882111;16799563;21139048;21906983 9969 J3QRB7;Q9UHV7 AB011165;ABBA01035371;ABBA01035372;ABBA01035373;ABBA01035374;AC008158;AC018628;AC060798;AF117754;AF151055;AK054894;AMYH01008541;AMYH01008542;BC044258;BC140891;BP332524;BQ709424;CH471179;CN273870;CQ834416;NM_005121 AAD22032;AAF36141;AAI40892;BAA25519;CAH05423;EAW51437;EAW51438;EAW51439;NP_005112;Q9UHV7 Hs.282678 1676069;1677006;1689672;1723421;1738969;1767971;1783480;2106721;2123423;2172327;5017677;5019739 A009M23;D17S1598;G32669;RH118523;RH17559;RH79872;RH91246;RH91848;SHGC-133090;THRAP1;THRAP1__5254;WI-20400 ARC250;DRIP250;HSPC221;KIAA0593;THRAP1;TRAP240 activator-recruited cofactor 250 kDa component;mediator of RNA polymerase II transcription subunit 13;mediator of RNA polymerase II transcription, subunit 13 homolog;thyroid hormone receptor associated protein 1;thyroid hormone receptor-associated protein 1;thyroid hormone receptor-associated protein complex 240 kDa component;thyroid hormone receptor-associated protein complex component TRAP240;thyroid hormone receptor-associated protein, 240 kDa subunit;vitamin D3 receptor-interacting protein complex component DRIP250 APPROVED protein-coding ENSG00000108510 22474 07229 603808 REVIEWED 1343127 MED14 mediator complex subunit 14 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008] X X p11.4 40393739 40479748 - 40508795 40594804 - 1580863;5147892;6480464 11306337 10235267;10198638;10235266;17474147;12218053;12037571;17081983;16239257;16109376;15625066;15302935;15175163;14702039;14638676;14576168;12825353;12509459;12477932;12101254;10508170;10024883;9989412;9734358;9598311;9110174;8710870;8619474;12089346;11867769;11416138;12660246;14636573;17306756;16204234;18418385;15604093;15989967;17132730;10770935;22939629;20133760;20508642;19805454;20194623;21963094;23000965;23275444;23322298;23563140;23572530;21729782;11834832;14657022;20098423;21139048;21890473;21906983;10882111;16239144;16799563 9282 H7C017;H7C3E5;O60244 AB006651;AB006652;ABBA01046782;ABBA01046783;ABBA01046784;ABBA01046785;ABBA01046786;ABBA01046787;ABBA01046788;ABBA01046789;ABBA01046790;ABBA01046791;ABBA01046792;ABBA01046793;ABBA01046794;AC092474;AC093029;AF070563;AF104256;AF135802;AF304448;AJ012077;AK023368;AK293070;AK308871;AMYH01022224;BC098377;BC132672;BC132674;BC144231;CH471141;NG_016325;NM_004229 AAD12725;AAD24360;AAG22547;AAH98377;AAI32673;AAI32675;BAA28626;BAA28627;BAF85759;EAW59419;EAW59420;NP_004220;O60244 Hs.407604 1711830;1850698;2121359;2133209;2133892;2159348;2173012;2184529 DXS6731;DXS7582;DXS9714;G06191;G49442;STS-AA011019;STS-H16735;WI-15558 CRSP150;CRSP2;CSRP;CXorf4;DRIP150;EXLM1;MGC104513;RGR1;TRAP170 ARC150;CRSP complex subunit 2;OTTHUMP00000025778;RGR1 homolog;activator-recruited cofactor 150 kDa component;cofactor required for Sp1 transcriptional activation subunit 2;cofactor required for Sp1 transcriptional activation, subunit 2 (150kD);hRGR1;human homolog of yeast RGR1;mediator of RNA polymerase II transcription subunit 14;thyroid hormone receptor-associated protein complex 170 kDa component;thyroid hormone receptor-associated protein complex component TRAP170;transcriptional co-activator CRSP150;transcriptional coactivator CRSP150;vitamin D receptor-interacting protein complex component DRIP150;vitamin D3 receptor-interacting protein complex 150 kDa component APPROVED protein-coding ENSG00000180182 2370 02172 300182 REVIEWED 1317518 MED16 mediator complex subunit 16 19 19 19 p13.3 793449 825585 - 818962 844218 - 867962 893218 - 1580863;6480464 12218053;10198638;10235266;15489334;15175163;14638676;12477932;11337467;8710870;14636573;11867769;12101254;15989967;18418385;20211142;23275444;23322298;17967894;20133760;20508642;22939629;10882111;14657022;16239144;19410544;20098423;21139048;21890473;21906983;22505724 10025 B9TWZ6;K7EKS6;K7EKX2;K7EKX6;Q9Y2X0 ABBA01002605;ABBA01002606;AC112706;AF106934;AF121228;AL137732;AMYH01009206;AMYH01009207;AMYH01009208;AMYH01009209;AMYH01009210;AMYH01009211;AU098434;BC004554;BC007853;BC011841;BC017282;BI461485;BQ015734;CB050542;CH471139;EU392448;EU392449;EU392450;EU392451;EU392452;EU392453;EU392454;EU392455;EU392456;EU392457;EU392458;EU392459;EU392460;EU392461;EU392462;EU392463;EU392464;EU392465;EU392466;EU392467;EU392468;EU392469;EU392470;EU392471;EU392472;EU392473;EU392474;EU392475;EU392476;EU392477;EU392478;EU392479;EU392480;EU392481;EU392484;EU392485;EU392487;EU392488;EU392489;EU392490;EU392496;NM_005481 AAD30032;AAD31087;AAH04554;AAH07853;AAH11841;AAH17282;ABM84604;ABM86859;ACB88881;ACB88882;ACB88883;ACB88884;ACB88885;ACB88886;ACB88887;ACB88888;ACB88889;ACB88890;ACB88891;ACB88892;ACB88893;ACB88894;ACB88895;ACB88896;ACB88897;ACB88898;ACB88899;ACB88900;ACB88901;ACB88902;ACB88903;ACB88904;ACB88905;ACB88906;ACB88907;ACB88908;ACB88909;ACB88910;ACB88911;ACB88912;ACB88913;ACB88914;EAW69586;EAW69587;NP_005472;Q9Y2X0 Hs.365207 1773927 RH78104 DRIP92;THRAP5;TRAP95 mediator of RNA polymerase II transcription subunit 16;thyroid hormone receptor-associated protein 5;thyroid hormone receptor-associated protein complex 95 kDa component;thyroid hormone receptor-associated protein, 95-kD subunit;vitamin D3 receptor-interacting protein complex 92 kDa component protein-coding ENSG00000175221 17556 06816 604062 VALIDATED 1316826 MED15 mediator complex subunit 15 The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.2 19191886 19271919 + 20861886 20941919 + 1358555;1580863;6480464 12497610 16799563;18029348;16904669;16713569;16189514;15489334;15461802;15455391;15318033;15175163;14983011;14702039;14691453;12477932;12167862;11414760;11024300;10235267;9225980;16169070;20720539;15989967;20025940;17135252;18418385;20133760;20508642;20534441;22916034;22939629;11834832;14657022;20098423;16239144;21139048;18568018;23275444;23322298 51586 B4DM43;C9J1I1;C9JCQ3;C9JEM1;C9JGN2;C9JJ12;C9JLN7;C9JM58;C9JWK5;C9JZV5;F2Z2B7;F5GZU5;F8WCS1;F8WDM6;F8WEJ4;G3V1P5;H7C308;Q9P1T3 ABBA01015451;AC004033;AC005500;AC007050;AC007731;AF056191;AF328769;AK000003;AK074230;AK074268;AK090465;AK124276;AK124925;AK126208;AK294540;AK294734;AK297284;AK297789;AK315540;AL832151;AL832923;AMYH01012536;AW245653;BC003078;BC005027;BC007529;BC013985;BC017110;BX478424;CB988805;CH471176;CR456537;NM_001003891;NM_015889;U80745 AAB91443;AAC12944;AAH03078;AAH07529;AAH13985;AAK58423;BAA92228;BAB85034;BAC03446;BAG54024;BAG54113;BAG57747;BAG59755;BAG60130;BAH11863;CAG30423;CAH10580;CAH10623;CAK54568;CAK54867;EAX02948;EAX02949;EAX02950;EAX02951;EAX02952;EAX02953;EAX02954;EAX02955;EAX02956;NP_001003891;NP_056973;Q96RN5 Hs.517421 1649835;1682523;1734284;1743225;1784530;2109633;2148579;5112371 AF021108;D22S663;D22S934;GDB:305493;PCQAP_9742;RH104435;RH92306;SHGC-171544 ARC105;CAG7A;CTG7A;DKFZp686A2214;DKFZp762B1216;FLJ42282;FLJ42935;PCQAP;TIG-1;TIG1;TNRC7 CTG repeat protein 7a;OTTHUMP00000198544;OTTHUMP00000198545;OTTHUMP00000198546;OTTHUMP00000198567;PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein;PC2 glutamine/Q-rich-associated protein;PC2-glutamine-rich-associated protein;TPA inducible gene-1;TPA inducible protein;TPA-inducible gene 1 protein;activator-recruited cofactor 105 kDa component;activator-recruited cofactor, 105-kD;mediator of RNA polymerase II transcription subunit 15;positive cofactor 2 glutamine/Q-rich-associated protein;positive cofactor 2, glutamine/Q-rich-associated protein;trinucleotide repeat containing 7;trinucleotide repeat-containing gene 7 protein APPROVED protein-coding ENSG00000099917 14248 12117 607372 REVIEWED 1322408 MED17 mediator complex subunit 17 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008] 11 11 q14 93157053 93186144 + 93517405 93546496 + 1580863;6480464;7240710 10198638;10235266;12584197;12218053;12037571;10235267;9989412;16344560;16109376;15489334;14702039;12509459;12477932;8710870;12101254;11867769;15175163;14638676;14576168;12154023;15208681;11504724;14636573;15989967;17132730;17643375;20950787;16204234;18418385;23275444;23322298;17967894;20133760;20508642;22939629;11834832;14657022;20098423;21890473;21906983;10882111;12149480;16239144;16799563;21987572;21326907;22668559;18976975;22797925 9440 E9PJZ4;E9PKQ4;E9PM72;Q9NVC6 ABBA01040039;ABBA01040040;ABBA01040041;AF104254;AF105421;AF117657;AK001674;AK022156;AK023209;AK299702;AMYH01003960;AP001894;BC021101;CH471065;DA506467;DA921529;NG_028028;NM_004268 AAD12723;AAD22031;AAD30856;AAH21101;BAA91827;BAB13973;BAG51169;BAG61603;EAW66920;EAW66921;NP_004259;Q9NVC6 Hs.444931 1643692;1661517;1697678;2139422;2169072;2175526;2217198;5021872;5022651;5093440 A009O47;CRSP6_3507;D11S2921;G32719;RH102355;RH16177;SHGC-34263;SHGC-52959;WI-15663;sY3084 CRSP6;CRSP77;DRIP80;FLJ10812;TRAP80 ARC77;CRSP complex subunit 6;OTTHUMP00000236036;activator-recruited cofactor 77 kDa component;cofactor required for Sp1 transcriptional activation subunit 6;cofactor required for Sp1 transcriptional activation, subunit 6 (77kD);cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa;mediator of RNA polymerase II transcription subunit 17;thyroid hormone receptor-associated protein complex 80 kDa component;thyroid hormone receptor-associated protein, 80-KD subunit;transcriptional coactivator CRSP77;vitamin D receptor interacting protein 80-kD;vitamin D3 receptor-interacting protein complex 80 kDa component APPROVED protein-coding 2375 04816 603810;613668 REVIEWED 1606323 MED20 mediator complex subunit 20 MED20 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009] 6 6 6 p21.1 43425870 43441669 - 41981070 41996855 - 41873092 41888877 - 6480464 9933582;14576168;15489334;15175163;14702039;14574404;12838346;12584197;12477932;11867769;14636573;15989967;20133760;20508642;21139048;19322201;10882111;21729782;21988832;23263863;23275444;23322298 9477 A6PVP4;B4DE08;B7ZBQ1;B7ZBQ3;Q9H944 ABBA01050745;AF097725;AF116602;AJ420544;AK023092;AK097385;AK293412;AK300573;AK307070;AL050196;AL160163;AMYH01016298;BC012618;BC015189;BC019866;BC032552;BC033498;BC040950;BC063509;BU597139;CH471081;NM_004275 AAD16169;AAF71027;AAH12618;AAH19866;AAH32552;AAH40950;ABZ92460;BAB14399;BAG53461;BAG56919;BAG62275;CAB43314;EAX04067;EAX04068;NP_004266;Q9H944 Hs.278434 2164664;5014051;5015619;5037552 A002F15;D11S3114;D8S2278;D8S2279 DKFZp586D2223;MGC29869;PRO0213;TRFP OTTHUMP00000016389;OTTHUMP00000196106;OTTHUMP00000205788;OTTHUMP00000205789;TRF-proximal protein homolog;Trf (TATA binding protein-related factor)-proximal homolog;hTRFP;mediator complex subunit 20mediator complex subunit 20mediator complex subunit 20Trf (TATA binding protein-related factor)-proximal homolog;mediator of RNA polymerase II transcription subunit 20 APPROVED protein-coding ENSG00000124641 16840 15638 612915 VALIDATED 1606332 MED22 mediator complex subunit 22 This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106758235 106765458 - 135197565 135204793 - 136207755 136214972 - 6480464 12584197;8586415;14638676;15489334;15175163;14759258;12477932;11891058;9740673;9196076;8499913;16169070;19913121;20628086;17207965;15989967;23275444;23322298;20133760;20508642;22939629;20098423;21890473;22331469;23667531;23000965;23267103 6837 E7EN96;E9PGW7;Q15528;Q5T8T7;Q5T8T8 ABBA01032461;AC002107;AJ224358;AJ224359;AJ224360;AJ224639;AK124518;AK126069;AL158826;AL772161;AMYH01021800;BC024225;BC040111;BI756582;CH471090;GD160955;HY154869;NM_133640;NM_181491;X85178;Y17213 AAH24225;AAH40111;ADQ33033;BAG54045;BAG54286;CAA11915;CAA11916;CAA11917;CAA12052;CAA12053;CAA59462;CAA76691;CAI12827;CAI12829;CAI12830;CAI12831;EAW88056;EAW88057;EAW88058;EAW88059;EAW88060;NP_598395;NP_852468;Q15528 Hs.78354 1679642;1852786;1854033;2109913;2186863;5015747;5015961;5022322;5119005 D11S2560;D11S4359;D15S1477;D9S1310;D9S1772;RH66808;RH91137;RP_L7A;SURF5_8662 MED24;MGC48682;SURF5;surf-5 OTTHUMP00000022480;OTTHUMP00000022481;OTTHUMP00000022482;OTTHUMP00000022483;OTTHUMP00000215369;OTTHUMP00000215370;OTTHUMP00000215371;OTTHUMP00000215372;OTTHUMP00000215373;mediator of RNA polymerase II transcription subunit 22;surf-5;surfeit 5;surfeit locus protein 5 APPROVED protein-coding ENSG00000148297 11477 01713 185641 REVIEWED 1316995 MED23 mediator complex subunit 23 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012] 6 6 q22.33-q24.1 131936799 131991056 - 131895106 131949379 - 1580863;6480464 15175163;11230166;17438371;9989412;18660489;16964286;16381901;15489336;14759369;14638676;14574404;12543799;12477932;12421765;12242338;11934987;11076863;10823961;10574462;10353252;10235267;10235266;11867769;11416138;12089346;15208681;15893730;15989967;19913121;20628086;15572696;16204234;18418385;18691967;23022380;23275444;23322298;20133760;20508642;21868677;11834832;14657022;16147992;20098423;16799563;19322201;16239144;21139048;21890473;21906983;20720539;21729782;10993082;23340209;22939629;22988093;22505724;22797925 9439 B9TX55;F5H4T7;F5H685;H7BYY3;Q05DL5;Q5JWT2;Q9Y5P7 AB033042;ABBA01025889;ABBA01025890;ABBA01025891;AF104255;AF105332;AF135022;AI249380;AJ420587;AK304711;AK315030;AL121575;AL136776;AMYH01016674;AW295188;BC007088;BC060759;CH471051;DB453121;EU392520;EU392521;EU392522;EU392523;EU392526;EU392527;EU392528;EU392529;EU392530;EU392531;EU392532;NG_031860;NM_001270521;NM_001270522;NM_004830;NM_015979 AAD12724;AAD30202;AAD31729;AAH07088;AAH60759;ACB88848;ACB88849;ACB88850;ACB88851;ACB88854;ACB88855;ACB88856;ACB88857;ACB88858;ACB88859;ACB88860;ACE86877;ACE87565;BAA86530;BAG65476;CAB66710;CAL38449;EAW48049;EAW48050;EAW48051;EAW48052;NP_001257450;NP_001257451;NP_004821;NP_057063;Q9ULK4 Hs.29679 1668724;1674328;1742075;1742431;1847479;1852440;2136370;2140260;2173279;5491952 CRSP3-1;GDB:190876;GDB:196989;RH46810;RH66704;SGC38314;SHGC-16174;SHGC-34762;STS-M14502;STS-N54839 ARC130;CRSP130;CRSP133;CRSP3;DKFZp434H0117;DRIP130;MRT18;SUR-2;SUR2 130 kDa transcriptional co-activator;133 kDa transcriptional co-activator;OTTHUMP00000017204;OTTHUMP00000017205;OTTHUMP00000017206;OTTHUMP00000017207;OTTHUMP00000017208;activator-recruited cofactor 130 kDa component;cofactor required for Sp1 transcriptional activation subunit 3;mediator of RNA polymerase II transcription subunit 23;vitamin D3 receptor interacting protein APPROVED protein-coding ENSG00000112282 2372 05436 605042;614249 REVIEWED 7240920 MED28P1 mediator complex subunit 28 pseudogene 1 10 q22.1 70750893 70751424 + 100420207 ABBA01019596;AL359844;AMYH01002805;NG_025514 pseudo 45078 INFERRED 7240881 MED28P3 mediator complex subunit 28 pseudogene 3 100131051 ABBA01062335;AC017071;AMYH01011335;NG_021593 pseudo 45080 INFERRED 7240967 MED28P4 mediator complex subunit 28 pseudogene 4 100130359 ABBA01052152;AL031585;AMYH01022247;NG_022594 pseudo 45081 INFERRED 7240880 MED28P7 mediator complex subunit 28 pseudogene 7 729327 ABBA01048714;AL031673;AMYH01011789;NG_021979 pseudo 45084 INFERRED 7240966 MED28P8 mediator complex subunit 28 pseudogene 8 101060144 ABBA01074355;AL138799;AMYH01000741 pseudo 45085 MODEL 1320392 MED21 mediator complex subunit 21 This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 12 12 p11.23 27066750 27073949 + 27175483 27182682 + 1580863;6480464 18654987;8598913;12037571;15635413;15489334;15249124;15175163;12477932;11591653;11278802;10024883;9872325;9734358;9710619;9305922;9159119;9121429;8609996;2320128;12101254;11867769;10198638;9315662;12584197;14636573;15989967;20520624;20211142;23322298;20133760;22479149;22939629;11834832;10882111;21987572;21139048;21890473;21906983;19322201;11441538;15710619;16344560;18231578;19096501;22505724;9443979 9412 F5GZQ1;F5H872;Q13503 ABBA01068042;AC092747;AK309064;AK311838;AMYH01004350;BC008380;CH471094;CR456999;DA420057;DB024509;HY075642;NM_001271811;NM_004264;NR_073463;NR_073464;U46837;U52960 AAA98511;AAB06944;AAH08380;ABZ92459;BAG34780;CAG33280;EAW96544;EAW96545;EAW96546;EAW96547;NP_001258740;NP_004255;Q13503 Hs.286145 1671560;1671912;1733610;5113433 D12S935;RH98906;STS-U46837;UniSTS:81128 SRB7;SURB7;hSrb7 OTTHUMP00000240653;OTTHUMP00000240654;RNA polymerase II complex component SRB7;RNA polymerase II holoenzyme component SRB7;RNAPII complex component SRB7;SRB7 suppressor of RNA polymerase B homolog;hSrb7;mediator of RNA polymerase II transcription subunit 21 APPROVED protein-coding ENSG00000152944 11473 09156 603800 REVIEWED 1347126 MED25 mediator complex subunit 25 This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010] 19 19 q13.3 55013358 55032049 + 50321536 50340237 + 6480464;7240710 11230166;10235267;9110174;15989967;17641689;15175163;14983011;14702039;14657022;14638676;12477932;12163014;11112660;19290556;20089804;17135252;21110951;21135126;21378963;21378965;18418385;20974256;23022380;21427722;20133760;20508642;22952853;11834832;16799563;21785987;16239144;21890473;21906983;21987572;22447446;20301462;23563140;21729782;21963094;23000965;23275444;22505724 81857 M0QYR4;M0QZQ2;Q9H0L5 ABBA01032908;ABBA01032909;AC006942;AC018766;AF261072;AF283769;AF447873;AJ617479;AK055844;AK289460;AK298897;AK307330;AL136746;AMYH01009918;AY533507;BC021543;BC024312;BC065297;BG770032;BI520216;CH471177;DC410997;EU392499;EU392500;EU392501;EU392502;EU392503;EU392504;EU392505;EU392506;EU392507;EU392508;EU392509;EU392510;EU392511;EU392512;EU392513;EU392514;EU392515;EU392516;EU392517;EU392518;EU392519;NG_017091;NM_030973 AAD15565;AAG15589;AAH24312;AAH65297;AAM20739;AAQ04648;AAS45401;ACB88861;ACB88862;ACB88863;ACB88864;ACB88865;ACB88866;ACB88867;ACB88868;ACB88869;ACB88870;ACB88871;ACB88872;ACB88873;ACB88874;ACB88875;ACB88876;ACB88877;ACB88878;ACB88879;ACB88880;ACE86988;ACE87677;BAF82149;BAG51583;BAG61008;CAB66680;CAE84581;EAW52544;EAW52545;EAW52546;EAW52547;EAW52548;EAW52549;EAW52550;EAW52551;NP_112235;Q71SY5 Hs.656639;Hs.745568 1335307;1337083;1789466;5024761 D19S902;D19S907;G68144;RH36905 ACID1;ARC92;CMT2B2;DKFZp434K0512;MGC70671;P78;PTOV2;TCBAP0758 ARC/mediator transcriptional coactivator subunit;activator interaction domain-containing protein 1;activator-recruited cofactor 92 kDa component;mediator of RNA polymerase II transcription subunit 25;mediator of RNA polymerase II transcription, subunit 25 homolog;prostate-derived protein 78 kDa APPROVED protein-coding ENSG00000104973 28845 14380 605589;610197 REVIEWED 1352604 MED26 mediator complex subunit 26 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 16587557 16640853 - 16546718 16600015 - 16685718 16739015 - 1580863;6480464 10811649;15989967;9989412;19049968;17081983;15175163;14702039;14638676;12477932;12050112;10235267;14759369;18418385;23275444;20133760;20508642;21729782;11834832;14657022;16239144;16799563;20098423;22318606;18976975 9441 M0QXW8;M0R064;M0R2P1;M0R2Y4;O95402 ABBA01051151;ABBA01051152;ABBA01051153;AC008764;AC024075;AF104253;AK128435;AK313778;AMYH01009564;BC047040;BC063628;BC105951;BC105952;BC105953;BC110430;BC127214;BC127215;BC143047;CH471106;NG_031959;NM_004831 AAD12722;AAI10431;AAI27216;BAG36516;EAW84554;NP_004822;O95402 Hs.715040 1696896;2217200 CRSP7_3508;RH101914 CRSP7;CRSP70 ARC70;CRSP complex subunit 7;activator-recruited cofactor 70 kDa component;cofactor required for Sp1 transcriptional activation subunit 7;cofactor required for Sp1 transcriptional activation, subunit 7 (70kD);cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa;mediator of RNA polymerase II transcription subunit 26;transcriptional coactivator CRSP70 APPROVED protein-coding ENSG00000105085 2376 05437 605043 VALIDATED 1348876 MED24 mediator complex subunit 24 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.1 35428876 35464415 - 38175350 38210889 - 1580863;6480464 10198638;10235266;12218053;9653119;10235267;17081983;16344560;15896744;15489334;15302935;15175163;14702039;12477932;12189208;11834832;11454195;10406464;10377381;10024883;9637681;8710870;8590280;15208681;14638676;11867769;12101254;15989967;16109376;17643375;11117530;12167862;16204234;18418385;19762545;20133760;21832049;22939629;9989412;22037903;10882111;16239144;16799563;21900206;21890473;21906983;20467438;21963094;23275444;23322298;23502783 9862 B4DDR8;B9TX62;E9PFL1;F5GY88;F5H0K1;F5H0M2;F5H2D6;F5H3E6;F5H5K2;F8W9R9;H0YEG1;J3KSL1;J3KSU0;J3KTL3;J3QLC0;J3QLC2;J3QLF8;J3QLV7;J3QRH9;O75448 ABBA01031847;ABBA01031848;ABBA01031849;ABBA01031850;ABBA01031851;AC090844;AC102799;AF055995;AF277379;AK022508;AK291040;AK293309;AK299864;AK300992;AK303502;AK303745;AMYH01008378;BC011375;CH471152;D50920;DB144359;EU392533;EU392534;EU392535;EU392536;EU392537;EU392538;EU392539;EU392540;EU392541;EU392542;EU392543;EU392544;EU392545;EU392546;EU392547;EU392548;EU392549;EU392550;EU392551;EU392552;EU392553;NM_001079518;NM_001267797;NM_014815;NR_052017 AAC39855;AAF78764;AAH11375;ABM82008;ABM85190;ACB88915;ACB88916;ACB88917;ACB88918;ACB88919;ACB88920;ACB88921;ACB88922;ACB88923;ACB88924;ACB88925;ACB88926;ACB88927;ACB88928;ACB88929;BAA09479;BAF83729;BAG51081;BAG56829;BAG61718;BAG62611;BAG64535;BAG64717;EAW60629;EAW60630;EAW60631;NP_001072986;NP_001254726;NP_055630;O75448 Hs.462983 1656569;1733348;1762299;1764041;1779408;2135048;2181143 D17S1179;L17843;RH25353;RH66540;SHGC-146145;SHGC-147700;SHGC-153395 ARC100;CRSP100;CRSP4;DRIP100;KIAA0130;MGC8748;THRAP4;TRAP100;hTRAP100 CRSP complex subunit 4;OTTHUMP00000164458;OTTHUMP00000164459;OTTHUMP00000164460;OTTHUMP00000164462;activator-recruited cofactor 100 kDa component;cofactor required for Sp1 transcriptional activation subunit 4;cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa;mediator of RNA polymerase II transcription subunit 24;mediator of RNA polymerase II transcription, subunit 24 homolog;thyroid hormone receptor associated protein 4;thyroid hormone receptor-associated protein 4;thyroid hormone receptor-associated protein complex 100 kDa component;vitamin D3 receptor-interacting protein complex 100 kDa component;vitamin D3 receptor-interacting protein complex component DRIP100 APPROVED protein-coding ENSG00000008838 22963 06107 607000 REVIEWED 6481432 MED4-AS1 MED4 antisense RNA 1 13 48651273 48654129 + 11329013 100873965 ABBA01051002;AL158196;AMYH01005099;BG189114;BG460082;NR_046511 Hs.616241 MED4-AS APPROVED miscrna ENSG00000229111 39213 VALIDATED 1343042 MED31 mediator complex subunit 31 17 17 17 p13.1 6567689 6576019 - 6487357 6495678 - 6546633 6554954 - 737633;1580863;6480464 12477932 15383276;16169070;15489334;15175163;14702039;14638676;14576168;12584197;12149480;11591653;10810093;10024883;20211142;10198638;15989967;23322298;20133760;20508642;21900206;22318606;18976975 51003 I3L0P8;I3L2J1;Q9Y3C7 ABBA01054836;AC004706;AF151883;AK094033;AK130946;AK311875;AMYH01008061;BC012539;CH471108;NM_016060 AAD34120;AAH12539;ADZ15770;BAG34816;EAW90301;NP_057144;Q9Y3C7 Hs.567493 1675868;1734416;2107733;2133445;2166253;2189517;5014051;5022200;5037552 D17S1392E;D8S2278;D8S2279;G73120;L18426;RH47146;RH91775;STS-N30572;TXNL5__5171 3110004H13Rik;CGI-125;FLJ27436;FLJ36714;Soh1 OTTHUMP00000128225;hSOH1;mediator complex subunit SOH1;mediator of RNA polymerase II transcription subunit 31;mediator of RNA polymerase II transcription, subunit 31 homolog;mediator of rna polymerase ii transcription, subunit 31 homolog (yeast) protein-coding ENSG00000108590 24260 14382 VALIDATED 7241615 MED6P1 mediator complex subunit 6 pseudogene 1 100128990 ABBA01021958;AC063965;AL356142;AMYH01002932;NG_022151 pseudo 45164 INFERRED 1354293 MED28 mediator complex subunit 28 4 4 p16 17225371 17235258 + 17616273 17626160 + 6480464 10656681;15467741;16899217;17848560;17568184;16964398;16189514;16024617;15489334;15175163;14638676;12584197;12477932;11779215;11591653;15989967;20584319;23322298;20133760;20508642;22939629;18029348;19322201;18187620;18976975;22053931;22495818 80306 H0YAA8;Q9H204 ABBA01032613;ABBA01032614;AC006160;AF317678;AF317679;AF317680;AF318059;AF358829;AK313928;AMYH01014034;BC011936;CH471069;NM_025205 AAH11936;AAK11563;AAK32724;AAL26906;ABM84317;ABM87712;EAW92781;EAW92782;NP_079481;Q9H204 Hs.731966 2178970 STS-H97895 1500003D12Rik;DKFZp434N185;EG1;magicin OTTHUMP00000217938;OTTHUMP00000217939;endothelial-derived gene 1;endothelial-derived protein 1;mediator of RNA polymerase II transcription subunit 28;mediator of RNA polymerase II transcription, subunit 28 homolog;mediator of rna polymerase ii transcription, subunit 28 homolog (yeast);merlin and Grb2-interacting cytoskeletal protein;tumor angiogenesis marker EG-1 protein-coding 24628 14381 610311 PROVISIONAL 1351639 MED29 mediator complex subunit 29 MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009] 19 19 19 q13.2 36683645 36692896 + 44573803 44583043 + 39881963 39891203 + 6480464 14576168;17332321;15555573;15175163;14702039;14638676;12477932;15989967;17643375;22939629;20133760;20508642;21890473;21906983 55588 B4DUA7;M0R0A0;M0R0U2;M0R1D9;M0R2E4;M0R3F3;Q9NX70 ABBA01040729;AC005239;AC011500;AC104106;AK000411;AK026527;AK090877;AK092909;AK124629;AK294667;AK297772;AK298014;AK300563;AK316010;AL137304;AMYH01009794;AY729650;BC019015;CH471126;NM_017592 AAH19015;AAU43732;BAA91147;BAG57835;BAG60118;BAG60318;BAG62269;BAH14381;CAB70687;EAW56884;NP_060062;Q9NX70 Hs.611541 5015961;5022200;5022578;5037552 D15S1477;D1S1423;D8S2279;L18426 DKFZp434H247;IXL intersex-like protein;mediator of RNA polymerase II transcription subunit 29 APPROVED protein-coding ENSG00000063322 23074 13748 612914 PROVISIONAL 1319681 MED30 mediator complex subunit 30 The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010] 8 8 8 q24.11 114721685 114741221 + 118602211 118621682 + 118532965 118552501 + 1580863;6480464 10198638;10235266;12218053;10235267;15489334;15175163;14638676;12584197;12477932;12136098;11909976;11591653;20493979;11867769;15989967;18691967;20211142;23322298;20133760;20508642;21832049;22446961;21139048;21890473 90390 C6GKU9;Q96HR3 ABBA01037798;AC024329;AC087361;AJ325138;AMYH01018983;AW160991;AY083305;BC008226;CH471060;FM179284;NM_080651 AAH08226;AAL89787;ABM82444;ABM85634;CAQ76893;EAW91970;EAW91971;NP_542382;Q96HR3 Hs.492612 1768307 RH48821 MED30S;MGC9890;THRAP6;TRAP25 OTTHUMP00000227900;OTTHUMP00000227901;TRAP/Mediator complex component TRAP25;mediator of RNA polymerase II transcription subunit 30;putative mediator of RNA polymerase II transcription subunit 30;thyroid hormone receptor associated protein 6;thyroid hormone receptor-associated protein 6;thyroid hormone receptor-associated protein complex 25 kDa component APPROVED protein-coding ENSG00000164758 23032 11631 610237 VALIDATED 1349942 MED27 mediator complex subunit 27 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011] 9 9 9 q34.13 105275611 105497127 - 133725320 133945074 - 134735497 134955274 - 6480464 12584197;9989412;10882111;18029348;15489334;15164053;14702039;12477932;8895530;1020353;15175163;14638676;15989967;23275444;23322298;20133760;20508642;22939629;15342556;21139048;21890473;21906983;18976975;22505724 9442 Q6P2C8 ABBA01012105;ABBA01032497;ABBA01032498;AF104252;AF230382;AI033804;AK022289;AK124232;AK298436;AK316345;AL160271;AL513102;AL603649;AL691506;AL713892;AMYH01021785;BC002878;BC064608;BC070331;BP255072;BU069864;CD388680;CH471090;DQ099387;NM_001253881;NM_001253882;NM_004269;Z36848 AAD12721;AAF37290;AAH02878;AAH64608;AAZ13763;ABZ92276;BAG60657;BAH14716;EAW87989;EAW87990;EAW87991;EAW87992;EAW87993;NP_001240810;NP_001240811;NP_004260;Q6P2C8 Hs.374262 1701594;1757983;1758649;1786904;2139595;2145256;2153694;2217202;5016478;5020948;5037552 A007C13;CRSP8_3509;D8S2279;FB3E1;G28634;G35510;GDB:434012;RH104433;SHGC-106947;SHGC-147034;SHGC-149023 CRAP34;CRSP34;CRSP8;FLJ42238;MGC11274;TRAP37 CRSP complex subunit 8;OTTHUMP00000022426;OTTHUMP00000022427;cofactor required for Sp1 transcriptional activation subunit 8;cofactor required for Sp1 transcriptional activation, subunit 8 (34kD);cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa;mediator of RNA polymerase II transcription subunit 27;p37 TRAP/SMCC/PC2 subunit;transcriptional coactivator CRSP34 APPROVED protein-coding ENSG00000160563 2377 05438 605044 REVIEWED 1349775 MED9 mediator complex subunit 9 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18319685 18335921 + 17321025 17337259 + 17380300 17396534 + 737633;1580863;6480464 12477932 14638676;15175163;14702039;11997338;20133760;21832049;22939629;20098423;21890473;22318606 55090 J3KTK5;Q9NWA0 ABBA01009759;AC073621;AK001055;AMYH01008159;BC000647;BC010906;BC104988;BC112029;CH471196;NM_018019 AAI04989;AAI12030;BAA91483;EAW55706;EAW55707;NP_060489;Q9NWA0 Hs.244595 1680361;1700142;2168258;2217598 MED25_3599;RH103684;RH25975;SHGC-31700 FLJ10193;MED25;MGC138234 OTTHUMP00000065542;mediator of RNA polymerase II transcription subunit 9;mediator of RNA polymerase II transcription, subunit 9 homolog;mediator of rna polymerase ii transcription, subunit 9 homolog (yeast);mediator subunit 25 APPROVED protein-coding ENSG00000141026 25487 14383 609878 REVIEWED 1342976 MEF2AP1 myocyte enhancer factor 2A pseudogene 1 1 1 1 q24-q25 152524988 152525847 - 179416723 179417575 - 179416723 179417575 - 8697817 4206 ABBA01027813;AL451075;AMYH01001532;NG_003072;NG_033075;U44888 1774132;2190751 SHGC-75886;UniSTS:265599 MEF2AP APPROVED pseudo 6994 INFERRED 1321116 MED6 mediator complex subunit 6 14 14 q24.2 70120710 70137137 - 71050957 71067384 - 1580863;6480464 10024883;12037571;14638676;15808511;15489334;15175163;14983011;14576168;12584197;12477932;12167862;10508479;10235267;10235266;10198638;9734358;9671713;9234719;8125298;11416138;11867769;15989967;16204234;18691967;20133760;20508642;11834832;14657022;17641689;22939629;22479149;10882111;16239144;16799563;21139048;21890473;21906983;22668559;18187620;18854154;18976975 10001 B4DU17;B4E2P0;G3V4A5;O75586 ABBA01030812;AF074723;AF155104;AK222587;AK223346;AK290647;AK300417;AK300460;AK304361;AL357153;AMYH01005831;BC004106;BM152825;BT006831;CH471061;CR541697;NM_005466;U78082 AAB84363;AAC26869;AAD42870;AAH04106;AAP35477;BAD96307;BAD97066;BAF83336;BAG62146;BAG62179;BAG65202;CAG46498;EAW81038;EAW81039;EAW81040;EAW81041;EAW81042;NP_005457;O75586 Hs.497353 1719151;2175415;2191373;5015619 D11S3114;D14S625;MARC_17915-17916:1025020646:1;RH123293 NY-REN-28 ARC33;OTTHUMP00000245583;OTTHUMP00000245584;OTTHUMP00000245585;OTTHUMP00000245831;activator-recruited cofactor 33 kDa component;hMed6;mediator of RNA polymerase II transcription subunit 6;mediator of RNA polymerase II transcription, subunit 6 homolog;mediator of rna polymerase ii transcription, subunit 6 homolog (yeast);renal carcinoma antigen NY-REN-28 protein-coding ENSG00000133997 19970 04284 602984 VALIDATED 1321085 MED7 mediator complex subunit 7 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q33.3 152591982 152596452 - 156498029 156502499 - 156565451 156569921 - 1580863;6480464 11867769;17353931;9989412;16189514;15489334;15175163;14638676;12584197;12477932;10377381;10235267;9671713;9420330;12101254;15989967;16204234;16344560;20211142;23275444;22939629;10882111;10235266;11834832;14657022;18391015;17709345;19471022;21890473;10353252;16239144;18187620;18976975 9443 E5RIE8;O43513;Q6IAZ5 ABBA01044273;AC010609;AF031383;AF104251;AK308393;AMYH01015744;AV711090;BC005250;BC006968;BQ011916;BQ130907;BT007368;CH471062;CR457009;CR541696;NM_001100816;NM_004270 AAC52115;AAD12720;AAP36032;CAG33290;CAG46497;EAW61610;EAW61611;NP_001094286;NP_004261;O43513 Hs.279902;Hs.744244 1671668;2118345;2191431;2217204;5094940 A006U21;CRSP9;CRSP9_3510;MARC_21827-21828:1025099615:1;NIB574 ARC34;CRSP33;CRSP9;MGC12284 ARC34;CRSP complex subunit 9;OTTHUMP00000160735;RNA polymerase transcriptional regulation mediator subunit 7 homolog;activator-recruited cofactor 34 kDa component;cofactor required for Sp1 transcriptional activation subunit 9;cofactor required for Sp1 transcriptional activation, subunit 9 (33kD);cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa;hMED7;mediator of RNA polymerase II transcription subunit 7;transcriptional coactivator CRSP33 APPROVED protein-coding ENSG00000155868 2378 05439 605045 REVIEWED 1354139 MED4 mediator complex subunit 4 This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 13 13 q14.2 47548093 47567241 - 48649864 48669277 - 6480464 10882111;10235266;17438371;12218053;10198638;18029348;10235267;16189514;15680972;15489334;15231748;15175163;15057823;14702039;14638676;12584197;12477932;11042152;8125298;18685082;15690163;19911042;21505449;11867769;15989967;17643375;19411183;18250152;20211142;23275444;23322298;17620012;20133760;20508642;22939629;15342556;16239144;21139048;21890473;21906983;12421765;19322201;18187620;18976975;22505724 29079 Q5T911;Q9NYR5 ABBA01051002;AF161475;AF230381;AF300618;AI613470;AK001934;AK222713;AK223017;AK301835;AL158196;AMYH01005099;BC005189;BP309440;CH471075;CR457276;CR541830;NM_001270629;NM_014166 AAF29090;AAF37289;AAG22542;AAH05189;ABM84002;ABM87332;BAA91987;BAD96433;BAD96737;BAG63279;CAG33557;CAG46629;EAX08783;EAX08784;EAX08785;EAX08786;NP_001257558;NP_054885;Q9NPJ6 Hs.181112;Hs.741275 1647278;1664259;1664261;1689634;1780178;1854294 A005N38;D13S917;G20362;SHGC-154547;SHGC-16168;SHGC-24298 ARC36;DRIP36;FLJ10956;HSPC126;RP11-90M2.2;TRAP36;VDRIP ARC36;OTTHUMP00000018390;OTTHUMP00000018391;OTTHUMP00000018392;TRAP/SMCC/PC2 subunit p36;TRAP/SMCC/PC2 subunit p36 subunit;activator-recruited cofactor 36 kDa component;mediator of RNA polymerase II transcription subunit 4;mediator of RNA polymerase II transcription, subunit 4 homolog;mediator of rna polymerase ii transcription, subunit 4 homolog (yeast);mediator, 34-kD subunit, homolog;p36 TRAP/SMCC/PC2 subunit;vitamin D receptor interacting protein;vitamin D receptor-interacting protein, 36-kD;vitamin D3 receptor-interacting protein complex 36 kDa component APPROVED protein-coding ENSG00000136146 17903 16145 605718 REVIEWED 7248460 MEF2C-AS1 MEF2C antisense RNA 1 23801869 101901830 AL050132;DA520067;NR_104031 miscrna 48908 VALIDATED 1313646 MED8 mediator complex subunit 8 This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] 1 1 1 p34.2 42131740 42137635 - 43622175 43628070 - 43849588 43855483 - 1580863;6480464 14638676;16973571;15489334;15175163;14576168;12584197;12477932;12149480;11752456;10235267;9671713;16169070;16712791;15989967;23275444;23322298;20133760;20508642;16239144;19471022;21693764;11572939;20194623;20427562;21209843;21512757;21832049;22939629;18976975 112950 Q96G25 ABBA01050956;AF521562;AL139289;AMYH01000557;AV684532;BC010019;BC010543;BF196855;BG620658;BI488866;CB161514;CB162354;CH471059;NM_001001653;NM_052877;NM_201542 AAH10019;AAH10543;AAM76709;ABM82714;ABM87828;EAX07099;NP_001001653;NP_443109;NP_963836;Q96G25 Hs.301756 2171097;2183218 D1S1808E;RH15983 ARC32;MGC17544;MGC19641 OTTHUMP00000008573;OTTHUMP00000008581;OTTHUMP00000197861;activator-recruited cofactor 32 kDa component;mediator of RNA polymerase II transcription subunit 8;mediator of RNA polymerase II transcription subunit MED8;mediator of RNA polymerase II transcription, subunit 8 homolog APPROVED protein-coding ENSG00000159479 19971 06991 607956 REVIEWED 1351770 MEF2B myocyte enhancer factor 2B The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (geneID:729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as geneID:4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on geneID:4207. [provided by RefSeq, Mar 2009] 19 19 p13.11 19256376 19281098 - 19256376 19281098 - 1580863;6480464 8575763;1516833;19093215;17974005;16504037;16344560;16189514;15567413;15489334;15084602;15057824;14702039;12700764;11517243;11230166;11181995;10531067;10458488;9430690;1748287;19913121;20628086;12861002;21906983;21951798;21796119;22318606;22302709;23382691 100271849 B3KQ23;B8ZZJ5;C9J4J4;Q02080 ABBA01051312;ABBA01051313;ABBA01051314;ABBA01051315;AC002126;AI499707;AK057210;AMYH01009606;CH471106;DA488022;NM_001145785 AAB86982;BAG51885;EAW84788;EAW84789;EAW84790;EAW84791;EAW84792;EAW84793;NP_001139257;Q02080 Hs.153629 FLJ32648;RSRFR2 OTTHUMP00000206144;OTTHUMP00000206145;OTTHUMP00000206146;OTTHUMP00000220464;myocyte-specific enhancer factor 2B;serum response factor-like protein 2 APPROVED protein-coding ENSG00000064489;ENSG00000213999 6995 600661 VALIDATED 1605918 MEDAG mesenteric estrogen-dependent adipogenesis 13 13 13 q12.3 12546863 12566248 + 30378328 30397678 + 31480312 31499709 + 6480464 15489334;15057823;14702039;12477932;17207965;22510272 84935 H0Y831;Q5VYS4 AB055407;ABBA01010119;AK027740;AK055635;AL353680;AMYH01005012;AMYH01005013;BC040165;BC101624;BC101626;CH471075;NM_032849 AAH40165;AAI01625;AAI01627;ADQ32958;BAB70975;BAC53805;EAX08473;EAX08474;NP_116238;Q5VYS4 Hs.147880;Hs.708377 1341943 D13S1229 AWMS3;C13orf33;FLJ14834;MEDA-4;MEDA4;MGC126673;MGC126675;hAWMS3 OTTHUMP00000018205;OTTHUMP00000018206;activated in W/Wv mouse stomach 3 homolog;hypothetical protein LOC84935;mesenteric estrogen-dependent adipogenesis protein;mesenteric estrogen-dependent adipose 4;uncharacterized protein C13orf33 APPROVED protein-coding ENSG00000102802 25926 07872 VALIDATED 1322126 MEF2A myocyte enhancer factor 2A The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] 15 15 q26 97956185 98071524 + 100106133 100256630 + 1580548;1580549;1580546;1580863;2312263;6480464;7240710 15811259;15841183;16469744;18413674 8575763;1516833;19453261;19161138;19153100;19093215;19058854;18249389;18222924;18160598;18086930;18073218;17611778;17579569;17112666;16980305;16951497;16872533;16767660;16563226;16504037;16484498;16381901;16344560;16314281;16195615;16043483;15958500;15861005;15841171;15834131;15798210;15496429;15489336;15489334;15466416;15084602;15057983;15043778;14960415;14645853;14630949;12691662;12626519;12586839;12477932;12371907;12061776;11904443;11792813;11316766;11230166;11160896;11076863;10852968;10849446;10825153;10748098;10737771;10531066;10487761;10458488;10330143;9858528;9753748;9418854;8889549;8798771;8697817;8662987;8548800;1748287;1329097;15140898;10835359;15132737;12861002;15173318;19364819;19782985;19935709;20031581;20086047;20132824;20363751;20379614;20546016;19913121;20590529;20628086;20682687;15276183;15923648;16956611;19389706;23028138;8900141;21468593;21767578;21693764;21890473;21906983;21450604;21741404;22028303;22363637;22446626;19684601 4205 F8W966;H0YKY6;H0YM62;H0YNI2;Q96D14 AB208985;ABBA01020551;ABBA01020552;ABBA01020553;ABBA01020554;AC022692;AC103967;AK291835;AK294207;AL831995;AMYH01006966;BC013437;BC053871;CH471101;DA778137;N93079;NG_016443;NM_001130926;NM_001130927;NM_001130928;NM_001171894;NM_005587;U49020;X63381;X68503;X68504;X68505;Y16312 AAB17195;AAB17196;AAH13437;AAH53871;ABZ92017;BAD92222;BAF84524;BAG57518;CAA44979;CAA48516;CAA48517;CAA76175;CAL37617;CAL38731;EAX02249;EAX02250;EAX02251;EAX02252;NP_001124398;NP_001124399;NP_001124400;NP_001165365;NP_005578;Q02078 Hs.268675 1644064;1649233;1723307;1745947;1774132;1775419;2114353;2128526;2170552;2173902;2176220;2176340;2190751;5022578;5093062 A009F05;D15S1215;D15S901;D15S907;D1S1423;G32497;G64293;RH118469;RH15752;RH45068;RH70651;RH78714;SHGC-75886;STS-U44889;UniSTS:265599 ADCAD1;RSRFC4;RSRFC9;mef2 MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A);myocyte-specific enhancer factor 2A;serum response factor-like protein 1 APPROVED protein-coding ENSG00000068305 6993 02807 600660;608320 REVIEWED 1350137 MEG8 maternally expressed 8 (non-protein coding) This gene is located in a cluster of imprinted genes on chromosome 14q32.3. It encodes a a non-protein coding transcript that is preferentially expressed from the maternal allele in skeletal muscle, and appears to be coordinately regulated with other imprinted genes in this region. [provided by RefSeq, Oct 2010] 14 14 14 q32.31 81414929 81427137 + 101361107 101373305 + 101361107 101373305 + 12107410;11337479;11481034;12045206 79104 ABBA01048514;ABBA01048515;ABBA01048516;AL117190;AMYH01006015;AMYH01006016;CA396130;NR_024149 Hs.655789 1768378;1773701;2176822 A003P35;G09851;RH44958 Bsr;Irm;LINC00024;NCRNA00024;Rian APPROVED miscrna ENSG00000258399 14574 613648 REVIEWED 1349172 MEF2C myocyte enhancer factor 2C This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] 5 5 q14.3 88051922 88214780 - 88014058 88199922 - 1580863;1580546;5131608;5131610;2312263;6480464;6907045;7240710 16469744;20041152;18949272;18413674 8455629;8575763;18079734;19453261;19093215;19065516;19011954;18950845;18660489;18067759;17903302;17611778;16504037;16478538;15834131;15831463;15743823;15561718;15340086;15140898;15084602;12477932;12376544;12135755;12130539;12061776;11809751;11792813;11744164;11554755;11535832;11504882;11160896;10805738;10790371;10737771;10523670;10330143;10082551;9858528;9798649;9753748;9748305;9384584;9069290;9001254;8948587;8900141;8663403;8575784;7679508;8548800;9418854;11486037;12659851;21533022;20936779;12861002;16043483;18029348;19592390;19720801;19751190;19801982;19828686;20513142;15342556;20610535;20709755;20881960;20333642;19913121;20628086;15276183;15923648;19553684;20211142;21060863;12709441;18463162;20412115;11279209;15743821;15964851;18332106;21481790;22718505;22997707;10458488;15486975;17696759;9770491;9857019;23001426;23572186;21652706;16510869;21849497;22275376;21906983;21901155;22073279;22139419;22363514;22318606;21890473;21988832;22504420;18588859;22798246;23400010;23226416;22449245;23382706 4208 D6R942;D6R9J8;D6RAH2;D6RB91;D6RC63;D6RCM6;D6RG14;D6RG21;D6RJ95;D6RJA7;D6RJG6;D8L7E9;Q06413 ABBA01062138;ABBA01062139;AC008525;AC008835;AK307883;AK312472;AL833268;AL833274;AMYH01015475;BC026341;BP231922;CH471084;DC318557;DC377336;DC377710;FM163484;FM180475;L08895;NG_023427;NM_001131005;NM_001193347;NM_001193348;NM_001193349;NM_001193350;NM_002397;S57212 AAA59578;AAB25838;AAI52785;AAI56604;ABZ92163;ACE87843;ACT64353;ACT64355;ACT64526;ACT64527;BAG35378;CAQ57795;CAQ86609;EAW95961;EAW95962;EAW95963;EAW95964;EAW95965;EAW95966;EAW95967;EAW95968;NP_001124477;NP_001180276;NP_001180277;NP_001180278;NP_001180279;NP_002388;Q06413 Hs.649965 1663523;1674898;1688374;1700512;1713211;1716513;1717099;1750267;1752539;1785746;1797858;1850080;2121812;2126277;2130280;2131275;2132290;2141269;2168558;2174241;2182786;2185612;5017716 1372;D5S1705;D5S1755;D5S2436;G10647;L28334;MEF2C;MEF2C_2028;RH103877;RH120393;RH121467;RH121542;RH93636;SGC30054;SGC30495;SHGC-106419;SHGC-112475;SHGC-56442;SHGC-60182;SHGC-60204;SHGC-81868;STS-Z40067;WI-11682 C5DELq14.3;C5DELq14.3; DEL5q14.3;DEL5q14.3 MADS box transcription enhancer factor 2, polypeptide C;OTTHUMP00000222409;OTTHUMP00000222410;OTTHUMP00000222411;OTTHUMP00000222412;OTTHUMP00000222416;OTTHUMP00000222540;OTTHUMP00000222542;OTTHUMP00000222543;OTTHUMP00000222544;OTTHUMP00000222656;myocyte-specific enhancer factor 2C APPROVED protein-coding ENSG00000081189 6996 02809 600662;613443 REVIEWED 6482599 MEG9 maternally expressed 9 (non-protein coding) 14 101536248 101539274 + 14702039;19194500;23322567 100507257 ABBA01048514;AK021527;AK094562;AL132709;AMYH01006017;CK824083;NR_047664 Hs.301755 1671919;1680451;1857117 RH70134;RH91474;STS-T54659 LINC00584 miscrna ENSG00000223403 43874 VALIDATED 737570 MEFV Mediterranean fever This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008] 16 16 p13.3 3232029 3246628 - 3292028 3306627 - 1580863;5129184;5129189;5129186;6480464;6907045;7240710 20217092;12746942;18219832 11468188;11115844;19641922;19531756;19494323;19489440;19479871;19397405;19373257;19346738;19309279;19262573;19253030;19210876;19119044;19115056;19033264;19026701;19026119;19014044;18984609;18843775;18832548;18825879;18795391;18725973;18691160;18662100;18648395;18609258;18597091;18577712;18576390;18512793;18496034;18403822;18389382;18353061;18340637;18330885;18328141;18318646;18307385;18300119;18266121;18177471;18177465;18097735;18061974;18035151;18006045;18000697;17964261;17938136;17889261;17711558;17710881;17697637;17696266;17665427;17594097;17566872;17520284;17489852;17469185;17454935;17276496;17195238;17102945;17090974;17067447;17067442;16907704;16785446;16730661;16721494;16707534;16627024;16614989;16523438;16523434;16498413;16439335;16387839;16378925;16255051;16245224;16234278;16225401;16118480;16037825;15958759;15942916;15903027;15805719;15724392;15717684;15674370;15667491;15643295;15458961;15146467;15122067;15071491;15024744;15018633;14985395;14727457;14727057;14679589;14636645;14615741;14595024;14578967;12966608;12955725;12929299;12905488;12762136;12700594;12687559;12646168;12615073;12477932;12461684;12401847;12384939;12180071;12124996;12105243;12077709;12054656;11781702;11588211;11498534;11484206;11470495;19479870;19473580;11464248;22207183;22351163;11464238;11175300;11139244;10854105;10842288;10807793;10787449;10782044;10737995;10666224;10612841;10364520;10234504;10090880;10024914;9735379;9668175;9653642;9572633;9288758;9288094;9177779;9152834;21366387;20845072;21294448;19423540;19449169;19465590;19579027;19675583;19688293;19714479;19729025;19755381;19762364;19777236;19784369;19820229;19820675;19845843;19863562;19929404;19934083;19998717;20008920;20031469;20041150;20113338;20151816;20165923;20177433;20194447;20224922;20306331;20373849;20391345;20406964;20437121;20438785;20483145;20485448;20506103;20518828;20533539;20534143;20549290;19934105;22783597;19913121;20602240;20628086;20645115;20669279;20677014;20828792;20301405;20937419;21179105;22798132;22337722;22467954;22580583;23031807;22884555;21231959;21615705;22810105;23015306;22451026;21284530;22960328;21153919;22019805;21819621;21562927;22368275;21623663;21695514;21385537;22934972;23206693;21789721;22808562;22953644;21246368;21299735;22037353;19158676;22281876;22614345;16403826;22453916;22771921;23633568;23479736;21833519;22532615;22705602;22790142;21901355;23137073 4210 D2DTW1;D2DTW2;E3P8H6;F5GZV9;F5H2E5;F5H595;F5H6N9;F8W6Z2;I3L0S7;O15553 ABBA01026737;ABBA01026738;AF018080;AF111163;AF301150;AF301151;AJ003147;AK298660;AMYH01007091;BC101511;BC101537;CH471112;FJ785717;FJ785718;FJ785719;FJ785720;FJ785721;FJ785722;NG_007871;NM_000243;NM_001198536;Y14441 AAB70557;AAD26152;AAI01512;AAI01538;AAK97223;AAK97224;ACV82585;ACV82586;ACV82587;ACV82588;ACV82589;ACV82590;BAG60828;CAA05906;CAA74793;EAW85382;EAW85383;NP_000234;NP_001185465;O15553 Hs.632221 1339525;1340085;5015404;5015619;5015879;5015961;5016478;5020414;5020946;5024413;5037552 D11S3114;D15S1477;D16S3070;D16S3082;D8S2279;GDB:314949;GDB:434012;L17688;L17705;L17877;L17971 FMF;MEF;MGC126560;MGC126586;TRIM20 OTTHUMP00000159670;OTTHUMP00000237919;OTTHUMP00000237926;OTTHUMP00000238138;OTTHUMP00000238139;OTTHUMP00000238140;OTTHUMP00000238141;marenostrin;pyrin APPROVED protein-coding ENSG00000103313 6998 02012 134610;249100;608107 REVIEWED 5131351 MEF2BNB MEF2B neighbor 19 19 19 p13.11 19192547 19208203 - 19153685 19164425 - 19287713 19303400 - 6480464 12477932;14702039;15489334;16189514;16344560;19913121;20379614;20628086;8889548;10458488 729991 K7ENY0;Q96FH0 ABBA01051316;ABBA01051317;ABBA01051318;AC002126;AK057161;AK128256;AMYH01009606;BC000489;BC004449;BC010178;BC010931;BC064537;BC073957;BC157837;BC157868;BC171829;BC171869;BQ186686;CA421006;DA440390;NM_001145783;NM_001145784 AAH04449;AAI57838;AAI57869;ACE86430;ACE86454;ACE87105;ACE87130;NP_001139255;NP_001139256;Q96FH0 Hs.153629 2165397;2184321;5014019;5022578;5022651;5024039 A006X47;D11S2921;D16S325;D19S648E;D1S1423;D5S2354 AK128256;FLJ32599;FLJ46391;MGC189732;MGC189763 MEF2B neighbor gene protein;OTTHUMP00000220467;OTTHUMP00000220468;hypothetical protein LOC729991;protein MEF2BNB protein-coding ENSG00000064489;ENSG00000254901 37247 VALIDATED 736662 MEGF6 multiple EGF-like-domains 6 1 1 1 p36.3 2657546 2783180 - 3394366 3517919 - 3404506 3528059 - 68762;1580863;6480464 9693030 16710414;12168954;8889548;12122015;16713569;20029029;21078624;18654987 1953 H7C557;H7C5N9;O75095 AB011539;AB231860;ABBA01073655;ABBA01073656;ABBA01073657;ABBA01073658;AF086226;AF086414;AL512413;AL513320;AMYH01000189;AMYH01000190;BM984873;BU501408;NM_001409 AAI46387;BAA32467;BAE19678;NP_001400;O75095 Hs.593645 1658798;1711152;1732960;1761955;1781746;1851378;2146405 D1S1347;D1S3578;SHGC-145891;SHGC-155369;SHGC-74093;SHGC-74138;SHGC-85309 EGFL3;KIAA0815 EGF-like protein 3;EGF-like-domain, multiple 3;OTTHUMP00000000663;OTTHUMP00000215006;OTTHUMP00000215007;epidermal growth factor-like protein 3;multiple EGF-like domains protein 6;multiple epidermal growth factor-like domains protein 6 protein-coding 3232 11973 604266 VALIDATED 1351308 MEG3 maternally expressed 3 (non-protein coding) This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012] 14 14 q32 100362198 100397121 + 101292445 101327363 + 6480464 18628527;18454453;17569660;16793321;16344560;14702039;14602737;12477932;10759892;9110174;8619474;22234798;11337479;11731499;15644399;17213841;18176563;18282507;18478039;19595458;19656776;19786834;19966805;20032057;20179190;20585555;20395239;21850407;21625215;21871428;22393162;23415968;23295831;23790166 55384 Q9UI56 AB032607;ABBA01048519;AF052114;AJ413186;AJ413187;AK055725;AK057522;AK092504;AK092707;AK098378;AK124580;AK127864;AL117190;AMYH01006015;AV704361;AY314975;BC023543;BC036882;BC051294;BC062783;BC092509;BQ270557;BQ613976;CH471061;DB179384;DB449068;GQ183494;GQ183495;GQ183496;GQ183497;GQ183498;GQ183499;GQ183500;GQ183501;GQ183502;GQ183503;NG_016853;NR_002766;NR_003530;NR_003531;NR_033358;NR_033359;NR_033360;NR_046464;NR_046465;NR_046466;NR_046467;NR_046468;NR_046469;NR_046470;NR_046471;NR_046472;NR_046473 Hs.654863 1340546;1644291;1648663;1659927;1668553;1678513;1680176;1683004;1698026;1698602;1740043;1759449;1775769;2124688;2145329;2182856;2185351;5015861;5024039;5092806;5096182;5109281;5492033;7185938 A005C18;A006G07;D10S16;D14S902;D14S985;D16S325;D1S1425;G32342;MARC_7455-7456:974218208:1;RH102544;RH102854;RH44666;RH44918;RH68771;RH80879;RH91376;RH91436;SHGC-150904;SHGC-34694;SHGC-35154;STS-N59777;STS-W38427;WI-16835 FLJ31163;FLJ42589;FLJ44703;FP504;GTL2;LINC00023;NCRNA00023;PRO0518;PRO2160;prebp1 APPROVED miscrna ENSG00000214548 14575 605636 REVIEWED 1349359 MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome 7240710 9781023 8422 1702866 DXS365 6999 2304753 MEF2BNB-MEF2B MEF2BNB-MEF2B readthrough This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010] 19 19 19 p13.11 19161210 19208203 - 19117378 19163937 - 19256376 19303400 - 6480464 19453261;16344560;16189514;15489334;15057824;14702039;12477932;11230166;20967262;1748287;1516833;20379614;19913121;20628086;22318606;21906983;23382691 4207 H3BNR1;Q02080 ABBA01051312;ABBA01051313;ABBA01051314;ABBA01051315;ABBA01051316;ABBA01051317;ABBA01051318;AC002126;AK301086;AK316328;AMYH01009606;BC126245;BC136457;BC171767;NM_005919;NR_027307;NR_027308;X63380;X68502 AAI26246;AAI36458;AAI71767;BAG62689;BAH14699;CAA44978;CAA48515;NP_005910 Hs.153629 2165397;2184321 A006X47;D19S648E LOC729991-MEF2B;MEF2B LOC729991-MEF2B readthrough;OTTHUMP00000206144;OTTHUMP00000206145;OTTHUMP00000206146;myocyte enhancer factor 2B APPROVED protein-coding ENSG00000064489;ENSG00000213999 39979 02808 VALIDATED 1348116 MEIG1 meiosis/spermiogenesis associated 1 10 10 10 p13 14930330 14943726 + 15041444 15054856 + 15001438 15014850 + 6480464 11329013;19805151;15328412;17643375;23258628 644890 Q5JSS6 AA971146;ABBA01034601;ABBA01034602;ABBA01034603;AI694434;AL360083;AMYH01002054;AMYH01002055;BG189536;NM_001080836 NP_001074305;Q5JSS6 Hs.257249 2125965 RH66273 SPATA39;bA2K17.3 OTTHUMP00000019179;meiosis expressed gene 1 homolog;meiosis expressed gene 1 protein homolog;spermatogenesis associated 39 APPROVED protein-coding ENSG00000197889 23429 614174 VALIDATED 1603600 MEGF11 multiple EGF-like-domains 11 15 15 15 q22.31 43065556 43436170 - 63974693 64333129 - 66187634 66546075 - 6480464 17498693;16713569;14702039;12975309;12477932;11347906;19851296;20198315 84465 A6BM72;C9JYE7;H3BR81 AB058677;AB300051;ABBA01038831;ABBA01038832;ABBA01038833;ABBA01038834;ABBA01038835;AC011847;AC084854;AC087382;AC209298;AK090663;AL834326;AMYH01006720;AY358226;BC029999;BC117419;BC126313;CH471082;NM_032445 A6BM72;AAI17420;AAI26314;AAQ88593;BAB47410;BAF64841;CAD38994;EAW77754;EAW77755;EAW77756;EAW77757;NP_115821 Hs.712886 1335226;1340314;1663881;1686188;1686340;1727491;1780138;2110553;2153582;7186701 D15S1213;D15S213;D15S651;G63003;MEGF11__7389;RH79766;RH92758;SHGC-154443;SHGC-17601 DKFZp434L121;KIAA1781 OTTHUMP00000164230;OTTHUMP00000203023;multiple EGF-like domains protein 11;multiple epidermal growth factor-like domains protein 11 protein-coding ENSG00000157890 29635 14385 612454 VALIDATED 733415 MEF2D myocyte enhancer factor 2D This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 1 1 q12-q23 154700143 154737153 - 156433519 156470529 - 1580863;6480464 8575763;8269842;18029348;19453261;19119233;19093215;18660489;17158926;17081983;16964243;16356933;16166628;15902271;15834131;15744350;15743823;15489334;15302935;14702039;12896970;12477932;12213324;11904443;11433030;11096067;10944115;10849446;10737771;10523670;9858528;22318606;22683712;8798771;10933397;10531067;10825153;9753748;16043483;19851296;20198315;20363751;19913121;20590529;20628086;20682687;18541383;19188441;20936779;21832049;8900141;21393861;21414300;18026121;18299387;10458488;22256741;21693764;21890473;21906983;19471022;17959722 4209 Q14814;Q5T9U4 AB210005;ABBA01016655;ABBA01016656;AF086193;AK027180;AK056972;AK308641;AL139412;AL365181;AMYH01001437;BC018985;BC032479;BC040949;BC054520;BX640792;BX647226;CH471121;DC377787;HI574186;L16794;L16795;NM_001271629;NM_005920;R42560 AAA59579;AAA93194;AAH32479;AAH40949;AAH54520;BAE06087;CBX47582;EAW52948;EAW52950;EAW52951;EAW52952;NP_001258558;NP_005911;Q14814 Hs.314327;Hs.744524 1685331;1730195;1797860;2117246;2129803;2164066;2191255 1996;D1S262E;HSC1IB102;MARC_16813-16814:1021558453:1;MEF2D_2065;RH70462;RH81006 DKFZp686I1536 MADS box transcription enhancer factor 2, polypeptide D;MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D);MEF2D/DAZAP1 fusion;OTTHUMP00000031810;OTTHUMP00000031852;OTTHUMP00000031853;myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein;myocyte-specific enhancer factor 2D protein-coding ENSG00000116604 6997 02810 600663 REVIEWED 6481350 MEIS1-AS1 MEIS1 antisense RNA 1 100873999 AC092669 APPROVED miscrna 40371 1601732 MEGF10 multiple EGF-like-domains 10 This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012] 5 5 q33 126654514 126824807 + 126626456 126796914 + 6480464 19197986;18179784;17643423;17498693;16344560;14702039;12477932;12421765;11347906;17205124;19721717;20379614;20828568;20813413;22101682;22371254;23382691;23535033 84466 Q96KG7 AB058676;ABBA01068878;ABBA01068879;ABBA01068880;ABBA01068881;AC008402;AC008682;AC010424;AK021631;AK123568;AK307919;AMYH01015604;BC020198;BC152478;CH471062;CR749437;DA240513;DA738723;NG_032072;NM_001256545;NM_032446 AAH20198;AAI52479;BAB47409;CAH18275;EAW62406;EAW62407;NP_001243474;NP_115822;Q96KG7 Hs.438709 1674863;1708668;1712000;1715291;1751829;1751955;1755873;1780632;1780880;1785276;2140639;2174806;2179697;5094949 L28280;MEGF10;RH118453;RH120476;RH65273;SHGC-105805;SHGC-105973;SHGC-106891;SHGC-142712;SHGC-34560;SHGC-81475;WI-13521;bac51467T;bac53144T DKFZp781K1852;EMARDD;FLJ41574;KIAA1780 OTTHUMP00000159235;OTTHUMP00000223094;multiple EGF-like domains protein 10;multiple epidermal growth factor-like domains protein 10 APPROVED protein-coding ENSG00000145794 29634 14384 612453;614399 REVIEWED 6481346 MEIS1-AS2 MEIS1 antisense RNA 2 100873998 AC092669 APPROVED miscrna 40370 1342735 MEGF9 multiple EGF-like-domains 9 9 9 9 q32-q33.3 94011363 94124882 - 122402912 122516433 - 123363196 123476765 - 68762;1580863;6480464 9693030 15164053;12975309;12477932;8889548;20339536 1955 C9J1K8;Q9H1U4 AB011542;ABBA01016245;ABBA01016246;ABBA01016247;ABBA01016248;AJ420444;AK295380;AL138836;AMYH01021688;AY358370;BC008313;BC016989;CH471090;CK300579;NM_001080497 AAI56249;AAI57030;AAQ88736;BAA32470;BAH12051;EAW87465;NP_001073966;Q9H1U4 Hs.494977 1298108;1668463;1687842;1715895;1766977;2131099;2174771;2175741;5022651;5037552 D11S2921;D8S2279;D9S1087;D9S1850;RH122682;RH47226;RH80677;SHGC-152520;STS-N34474;STS-T79417 EGFL5 EGF-like protein 5;OTTHUMP00000022793;epidermal growth factor-like protein 5;multiple EGF-like domains protein 9;multiple epidermal growth factor-like domains protein 9 protein-coding ENSG00000106780 3234 604268 VALIDATED 737434 MEGF8 multiple EGF-like-domains 8 The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 19 19 19 q12 39630557 39683710 + 47521601 47574761 + 42829761 42882921 + 68762;1580863;6480464 9693030 16713569;16335952;15489334;12546731;12477932;16712791;23063620;21078624;22268729 1954 F5GZG7;M0QZL2;M0R0Q0;Q7Z7M0 AB011541;ABBA01040846;ABBA01040847;AC011497;AC024078;AF497566;AK026018;AMYH01009832;AY280362;BC033228;BC093649;BC111942;BC153880;BF941059;CB122799;CH471126;NG_033030;NM_001271938;NM_001410 AAH33228;AAI53881;AAO85531;AAP35084;BAA32469;EAW57132;EAW57133;NP_001258867;NP_001401;Q7Z7M0 Hs.132483 1769546;5022578;5024761 D1S1423;RH36905;STS-R97176 C19orf49;CRPT2;EGFL4;FLJ22365;MGC120684;MGC138147;SBP1 EGF-like domain-containing protein 4;EGF-like protein 4;HBV pre-s2 binding protein 1;OTTHUMP00000197110;Putative uncharacterized protein C19orf49;epidermal growth factor-like protein 4;multiple EGF-like domain protein 4;multiple EGF-like domains protein 8;multiple epidermal growth factor-like domains 8;multiple epidermal growth factor-like domains protein 8 protein-coding ENSG00000105429 3233 10370 604267;614976 REVIEWED 6480305 MEIS1-AS3 MEIS1 antisense RNA 3 2 p14 66650474 66660602 - 16344560;8889548 730198 ABBA01075458;AC092669;AMYH01010409;CF891067;DA226783;DA702499;DA708779;DA735371;NR_046438 Hs.526753 1755751 SHGC-142599 APPROVED miscrna 40369 VALIDATED 1642765 MEI1 meiosis inhibitor 1 22 22 22 q13.2 25901954 26001526 + 40425464 40525405 + 42095518 42195459 + 6480464 12477932;16683055;14702039;14668445;20379614;16503656 150365 F5GZT0;F5H6Q9;H0Y787;Q4G0I1;Q5TIA1 ABBA01055651;ABBA01055652;AK092934;AK093341;AK094461;AK097834;AK128158;AK301391;AK301435;AK303957;AK307341;AL021453;AL023879;AMYH01012804;AY952376;AY952377;BC025400;BC029582;BC032248;BC035720;BC070111;BC144638;CH471095;NM_152513;Z83840 AAH25400;AAH32248;AAH35720;AAH70111;AAI68371;AAY27427;AAY27428;BAC04138;BAC04361;BAC05179;BAC87303;BAH13471;BAH13481;BAH14083;EAW60465;NP_689726;Q5TIA1 Hs.116419 1681004;1701142;5014051;5015619;5016781;5037552 D11S3114;D8S2278;D8S2279;RH104199;RH74961;SHGC-67307 MGC40042;SPATA38 OTTHUMP00000199479;meiosis defective 1;meiosis defective protein 1;meiosis inhibitor protein 1;spermatogenesis associated 38 protein-coding ENSG00000167077 28613 608797 VALIDATED 1348772 MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 4219 7008 1604193 MEIOB meiosis specific with OB domains 16 16 16 p13.3 2096249 2134396 - 1823990 1850456 - 1883984 1922179 - 6480464 12477932;11157797;20379614 254528 C9J4P9;H3BSU6;H3BU10;H3BU18;Q8N635 ABBA01030291;ABBA01030292;ABBA01030293;AE006639;AL031722;AL132823;AL499628;AMYH01007041;BC029829;CD300613;CH471112;DB461414;NM_001163560;NM_152764 AAH29829;AAK61296;ABM82225;ABM85409;CAM28376;EAW85604;EAW85605;EAW85606;EAW85607;NP_001157032;NP_689977;Q8N635 Hs.729604 C16orf73;MGC35212;gs129 OTTHUMP00000158865;OTTHUMP00000211672;hypothetical protein LOC254528;meiosis-specific with OB domain-containing protein;uncharacterized protein C16orf73 APPROVED protein-coding ENSG00000162039 28569 17530 VALIDATED 1606930 MEIS3P2 Meis homeobox 3 pseudogene 2 17 17 p11.2 20433330 20435417 + 20492538 20494128 + 16625196;14702039 257468 A8K0S8 AC087499;AK289643;AMYH01008259;NG_002418 BAF82332 Hs.462484 1687932;1689259 RH47617;RH80845 pseudo 17638 INFERRED 1606647 MEMO1P1 mediator of cell motility 1 pseudogene 1 21 21 21 q22.12 22701269 22703076 + 36421123 36426476 + 37502405 37504212 + 16201836;10830953;11707072 728556 Q2VIM3 AB041013;ABBA01057384;AMYH01012225;AP000689;AP001725;CH471079;DQ120661;NG_005842 ABB92445;EAX09751 1690456;1794250 PMC310876P2;RH79780 C21orf19;C2orf4P;MEMO1P;rcC2orf4 APPROVED pseudo 23274 INFERRED 3340340 MEMO1P2 mediator of cell motility 1 pseudogene 2 6 6 6 q23.3 135959399 135960848 + 135260677 135262116 + 135218974 135220423 + 645175 ABBA01025848;AL021939;AMYH01016690;NG_022967 pseudo 38502 INFERRED 3077586 MEMO1P3 mediator of cell motility 1 pseudogene 3 3 3 166004563 166004950 + 167606118 167606505 + 100462782 ABBA01058725;AC026353;AMYH01013636;NG_022281 pseudo 38503 INFERRED 1354497 MEIS3P1 Meis homeobox 3 pseudogene 1 This gene appears to be a retrotransposed pseudogene based on its lack of exons compared to other family members, one of which is found on chromosome 19 (MEIS3). It does appear to be transcribed and has an ORF that may encode a protein of similar size and sequence to that encoded by MEIS3. [provided by RefSeq, Jul 2008] 17 17 p12 15630889 15633744 + 15690164 15693019 + 6480464 16625196;14702039;9049632;8889548 4213 A6NDR6 ABBA01035673;ABBA01035674;AC015922;AK054814;AMYH01008145;BM463727;BQ575773;BU685266;NR_002211;U68385 A6NDR6;AAB19195 Hs.356135 1687932;1689259 RH47617;RH80845 MEIS3;MEIS4;MRG2 meis1, myeloid ecotropic viral integration site 1 homolog 4 (mouse) APPROVED pseudo 7002 VALIDATED 3077604 MEMO1P4 mediator of cell motility 1 pseudogene 4 X X 123285200 123285570 + 122899172 122899542 + 100462785 ABBA01036376;AL023575;AMYH01022935;NG_022698 1832652;1839826;1960810;1960812;1960814;1960816;1960818;1960820;1960822 ECD17467;ECD21096;REN51276;REN51277;REN51278;REN51279;REN51280;REN51281;REN51282 pseudo 38504 INFERRED 1318359 MEIS3 Meis homeobox 3 19 19 19 q13.32 44710265 44726668 - 52598193 52614597 - 47906375 47922785 - 737633;1580863;6480464 12477932 15489334;17178831;9049632;8950991;15617687;20553494 56917 H0YKK4;H0YLG9;H0YLL0;H0YMV2;H0YNA8;H3BLU4;Q99687 AB209455;ABBA01041032;ABBA01041033;AC073548;AK098710;AK289950;AL537583;AMYH01009883;AY091593;BC014430;BC025404;BC042183;BC045741;BC069251;CF993984;CH471126;DB545063;NM_001009813;NM_020160 AAH25404;AAH45741;AAH69251;AAM09846;BAD92692;BAF82639;EAW57478;EAW57479;EAW57480;EAW57481;EAW57482;EAW57483;NP_001009813;NP_064545;Q99687 Hs.741404 1687932 RH80845 DKFZp547H236;MRG2 Meis1, myeloid ecotropic viral integration site 1 homolog 3;homeobox protein Meis3;meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse);meis1-related protein 2 protein-coding ENSG00000105419 29537 14386 VALIDATED 1315277 MEIS1 Meis homeobox 1 Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. [provided by RefSeq, Jul 2008] 2 2 p14 66516036 66653395 + 66662532 66799891 + 1580863;6480464 7565694;19620614;19279021;19240061;19223043;19126776;19109563;18973687;18541116;18410541;18216367;18195096;17805329;17637780;16172981;15681849;15654074;15617687;15489334;15479723;15466398;15161102;15160920;15103390;14966272;14702039;14701735;12609849;12477932;11342305;11331288;11161815;10523646;10471746;10373562;10082572;9847074;9405651;9343407;9226379;9049632;8889548;21422461;21518888;20541704;16087734;18692240;19473990;19559479;19563517;19620287;19776672;19799567;19822783;20062060;20379614;20396431;19913121;20600580;20628086;20211142;20237320;21703237;21710629;17000644;21572129;21858198;21925394;21779176;21986840;22185299;22242598;22353710;21988832;22972982;23139255 4211 B7Z4T5;B9A066;E9PBY5;E9PC25;E9PDC4;F5GYS8;F8W8U3;H0YNY8;O00470 AB040810;ABBA01075458;ABBA01075459;AC007392;AC092669;AC093641;AI203963;AK098174;AK297109;AK297817;AK314949;AL832770;AMYH01010409;BC036511;BC043503;CB854199;CH471053;NG_011467;NM_002398;U85707 AAC51642;AAH43503;AAN40012;AAY15006;AAY24268;BAB15814;BAG37454;BAG53586;BAH12499;BAH12671;EAW99892;EAW99893;EAW99894;EAW99895;EAW99896;NP_002389;O00470 Hs.526754;Hs.603755 1334749;1340270;1659978;1688983;1719005;1719889;1727411;1729051;1755415;1794650;1858433;2107343;2130476;7183245;7186022 D2S134;D2S290;G63113;MEIS1_7825;Meis1;NIB1519;PMC343796P1;RH123209;RH123637;RH68793;RH75716;SHGC-142293;WI-12712 MGC43380 Meis1, myeloid ecotropic viral integration site 1 homolog;OTTHUMP00000198324;OTTHUMP00000198326;OTTHUMP00000202694;WUGSC:H_NH0444B04.1;homeobox protein Meis1;leukemogenic homolog protein;meis1, myeloid ecotropic viral integration site 1 homolog (mouse) APPROVED protein-coding 7000 03442 601739 REVIEWED 1313085 MEIS2 Meis homeobox 2 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 q14 34970524 35180792 - 37183222 37393500 - 6480464 17178831;10764806;18029348;18973687;18408019;15489334;15161102;14702039;12477932;11834421;11438208;11279116;10619030;9383298;9049632;15617687;18821565;19559479;19584346;20195266;20379614;20553494;20523026;20211142;8889548;16344560;21368052;21832049;21746878;22028617;14702098;23541832;23667531 4212 B3KP81;B3KPD8;B7Z6F6;H0YK79;H0YKE5;H0YKN2;H0YM65;H0YMX5;Q9NRS1 ABBA01038494;ABBA01038495;ABBA01038496;AC018563;AC069483;AC078909;AF017418;AF178948;AF179896;AF179897;AF179898;AF179899;AK001298;AK055936;AK056038;AK056216;AK056620;AK094531;AK226072;AK294411;AK300247;AK311546;AMYH01006548;AMYH01006549;AY349358;BC001516;BC001844;BC007202;BC050431;BM679305;CH471125;DA648763;DA689122;NG_029108;NM_001220482;NM_002399;NM_170674;NM_170675;NM_170676;NM_170677;NM_172315;NM_172316;NR_051953 AAB70270;AAF81638;AAF81639;AAF81640;AAF81641;AAF81642;AAH01516;AAH01844;AAH07202;AAH50431;AAQ56722;ABZ92164;ACE86583;ACE86590;ACE87272;BAG51593;BAG51610;BAG51650;BAG51768;BAH11758;BAH13242;EAW92343;EAW92344;EAW92345;EAW92346;EAW92347;EAW92348;EAW92349;EAW92350;EAW92351;EAW92352;EAW92353;EAW92354;EAW92355;EAW92356;EAW92357;EAW92358;NP_001207411;NP_002390;NP_733774;NP_733775;NP_733776;NP_733777;NP_758526;NP_758527;O14770 Hs.510989 1709152;1761051;1784206;2107345;2131568;2155731;2186857 D15S555;MEIS2_7826;SHGC-145003;SHGC-155559;SHGC-85737;UniSTS:34756;WI-18493 HsT18361;MGC2820;MRG1 Meis homolog 2;Meis1, myeloid ecotropic viral integration site 1 homolog 2;Meis1-related gene 1;OTTHUMP00000160208;OTTHUMP00000160209;TALE homeobox protein Meis2;homeobox protein Meis2;meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse);meis1-related protein 1 2289561 BW440_H APPROVED protein-coding ENSG00000134138 7001 03443 601740 REVIEWED 1348191 MEP1AL3 meprin A, alpha-like 3 10405340 10852 7018 1350793 MEP1AL4 meprin A, alpha-like 4 10405340 10851 7019 1320537 MEMO1 mediator of cell motility 1 2 2 2 p22-p21 31937749 32080568 - 31946396 32089202 - 32092892 32235698 - 6480464 16780588;18045866;15489334;15156151;14702039;12477932;11707072;10810093;18955552;19223396;20379614;17043677;21906983;22318606 51072 B5MCI6;C9JSD7;F8WCZ0;H7C3C6;Q5R2V8;Q9Y316 AB041018;AB041019;ABBA01074858;ABBA01074859;ABBA01074860;AF132961;AF363446;AF529368;AK022169;AK057760;AK290753;AK297128;AL121652;AL121655;AL161966;AMYH01010224;AMYH01010225;BC018733;BC036262;BC070046;BC094681;CH471053;NM_001137602;NM_015955 AAD27736;AAH18733;AAH70046;AAH94681;AAL34462;AAQ09602;ABM82960;ABM86151;BAD74066;BAD74067;BAF83442;BAG59632;EAX00467;EAX00468;EAX00469;EAX00470;EAX00471;EAX00472;EAX00473;EAX00474;NP_001131074;NP_057039;Q9Y316 Hs.444969 1673999;1690456;1751015;1794250;2151525;2169090;2173624 Cda0sd05;PMC310876P2;RH79780;SHGC-104933;SHGC-32192;SHGC-57714;SHGC-61993 C2orf4;CGI-27;DKFZp434I0135;FLJ25031;MEMO;NS5ATP7 C21orf19-like protein;HCV NS5A-transactivated protein 7;OTTHUMP00000158569;OTTHUMP00000201122;OTTHUMP00000201123;OTTHUMP00000225827;chromosome 2 open reading frame 4;hepatitis C virus NS5A-transactivated protein 7;mediator of ErbB2-driven cell motility 1;memo-1;protein MEMO1 protein-coding ENSG00000162959 14014 12814 611786 VALIDATED 1352087 MEP1AP1 meprin A, alpha pseudogene 1 9 9 p12 42322157 42328935 - 42332061 42339039 - 10405340;10405340 642840 AL773545;NG_006472 MEP1AL1 APPROVED pseudo 7016 INFERRED 4145435 MEP1AP4 meprin A, alpha pseudogene 4 9 9 p11.2 44087903 44094664 + 44147807 44154768 + 643157 ABBA01033775;BX664718;CR848007;NG_006471 pseudo 39138 INFERRED 1342681 MEP1AP2 meprin A, alpha pseudogene 2 9 9 q21.11 69967185 69973966 - 70727366 70734147 - 10405340;10405340 644777 AL591479;NG_006473 MEP1AL2 APPROVED pseudo 7017 INFERRED 4742435 MEP1AP3 meprin A, alpha pseudogene 3 9 9 p12 43152898 43159674 + 43162902 43169678 + 389747 AL513478;AMYH01020217;NG_006474 pseudo 39137 INFERRED 1318950 MEOX1 mesenchyme homeobox 1 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 17 17 17 q21 38425737 38447247 - 39073283 39094788 - 41717757 41739262 - 1580863;6480464;7240710 7987315;17764081;16582099;15793308;15489334;15039437;12477932;11423130;9373945;7874108;21832049;18029348;22567123;23290072 4222 F8VXS6;P50221 ABBA01028402;AC004149;AC068675;AK291139;AMYH01008409;AW410297;BC069474;BC069506;BE898972;BG677020;BQ003431;BQ028272;BX284090;CH471178;NG_032987;NM_001040002;NM_004527;NM_013999;U10492;U10493 AAA19983;AAA19984;AAH69474;AAH69506;ABZ92165;BAF83828;EAW51671;EAW51672;NP_001035091;NP_004518;NP_054705;P50221 Hs.438 1335277;1729847;1732772;1734042;1744229;1744231;1744233;1744235;2107347;2145213 D17S1171;D17S1339;D17S680;D17S965;GDB:438128;GDB:438129;GDB:438132;GDB:438137;MEOX1_7256;SGC35253 KFS2;MOX1 OTTHUMP00000243947;OTTHUMP00000243948;OTTHUMP00000243949;homeobox protein MOX-1;mesenchyme homeo box 1 APPROVED protein-coding ENSG00000005102 7013 02537 214300;600147 REVIEWED 1319059 MELK maternal embryonic leucine zipper kinase 9 9 p13.2 36562905 36667679 + 36572859 36677680 + 1300444;1580863;6480464 9136115 16216881;17280616;17960622;17722061;17081983;15489334;14699119;12477932;12400006;11802789;9305775;8724849;8125298;15908796;16159311;19615732;19671159;21558073;21806965;15342556;16344560;21139048;21890473;21906983;21963094;22945237;23000965;20433920;22505724 9833 B7Z1G6;B7Z6Y0 AB183427;AB183428;AB267395;ABBA01050412;ABBA01050413;ABBA01050414;ABBA01050415;ABBA01050416;ABBA01050417;ABBA01050418;ABBA01050419;ABBA01050420;ABBA01050421;AI590871;AK222811;AK293284;AK293423;AK293447;AK296820;AK299164;AK300761;AK300821;AK301131;AK302374;AK309470;AL354932;AL442063;AMYH01019351;AMYH01019352;BC014039;BP365611;CH471071;CS401372;CS401374;CS401376;D79997;DB368226;HC679607;JA388888;NM_001256685;NM_001256687;NM_001256688;NM_001256689;NM_001256690;NM_001256691;NM_001256692;NM_001256693;NM_014791;NR_046337;W01871 AAH14039;BAA11492;BAD96531;BAF73615;BAF73616;BAF74635;BAH11482;BAH11502;BAH11508;BAH12436;BAH12961;BAH13343;BAH13354;BAH13416;BAH13687;CAL40334;CAL40335;CAL40336;CBL93957;CCB07557;EAW58302;EAW58303;EAW58304;NP_001243614;NP_001243616;NP_001243617;NP_001243618;NP_001243619;NP_001243620;NP_001243621;NP_001243622;NP_055606;Q14680 Hs.184339 1337000;1723461;1724451;2109501;2158225 D9S1859;MELK_9001;RH118549;RH122388;RH25391 HPK38;KIAA0175 OTTHUMP00000021377;hMELK;maternal embryonic leucine zipper kinase;pEg3 kinase;protein kinase Eg3;protein kinase PK38;tyrosine-protein kinase MELK protein-coding ENSG00000165304 16870 06119 607025 VALIDATED 1350045 MER5 antigen identified by monoclonal antibody 2D8 4228 7023 733480 MEOX2 mesenchyme homeobox 2 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008] 7 7 p22.1-p21.3 15617362 15692833 - 15650837 15726308 - 1580863;6480464 16335786;9073066;7713505;19383287;19340300;17957028;17074759;16344560;16116430;15489334;12853948;12842453;12690205;12477932;11423130;10831122;8266988;7607679;16189514;19336002;16713569;19760604;20379614;20421348;22206000;22644917 4223 P50222;Q6FHY5 AACC02000008;ABBA01056623;ABBA01056624;AC004452;AC005550;AK309472;AK313386;AMYH01017086;AMYH01017087;BC017021;BQ025060;CH236948;CH471073;CR536553;DA586635;L36328;NG_032988;NM_005924;X82629 AAA58497;AAC06184;AAC33152;AAH17021;BAG36184;CAA57949;CAG38790;EAL24289;EAW93666;NP_005915;P50222 Hs.170355 1669458;1722407;1725513;1753183;1848223;1858472;2116317;2146689;2157065;2217600 BMS3034;D7S2109E;G60276;GDB:1317668;MEOX2;MEOX2_3097;RH119153;RH68870;SHGC-110076;SHGC-12960 GAX;MOX2 OTTHUMP00000201586;growth arrest-specific homeo box;growth arrest-specific homeobox;homeobox protein MOX-2;mesenchyme homeo box 2;mesenchyme homeo box 2 (growth arrest-specific homeo box) APPROVED protein-coding ENSG00000106511 7014 02760 600535 REVIEWED 736443 MEN1 multiple endocrine neoplasia I This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] 11 11 q13 64327564 64335342 - 64570986 64578766 - 1581203;1601326;1601327;1580863;2317273;2317335;2317303;2317327;2317340;2317314;2317319;2317331;2317334;2317360;2317341;2317354;2317292;2317294;2317313;2317351;2317288;2317293;2317347;619590;2317310;2317277;6480464;7240710 16840830;11295574;9215690;12917331;17623761;18549467;17953629;17278096;18045958;17975067;17854391;17766710;12030908;17135306;15944766;12941803;19170121;18300794;16465412;20138042;19620250;16563611;12036912;19208834;11302744 12746426;12649288;12509449;12505253;12477932;12459032;12417605;12324758;12213668;12203793;12169273;12145286;12112656;12050235;11956591;11903322;11836268;11765051;11765049;11740047;11369988;11134142;11027505;10879731;10709111;10647896;10534569;10090472;9888389;9843042;9832038;9792884;9747036;9740255;9683585;9671267;9554741;9498491;9463336;9361035;9341881;9253601;9241276;9215689;9103196;8938448;1968641;10500243;11274402;15331604;14992727;11526476;12874027;12226747;15640349;15563473;12837246;9989505;16690369;14508515;11500056;17500065;9465067;15199122;19474519;19407509;19351817;19074834;19011561;18779856;18775714;18752793;18636154;18616711;18601604;18598942;18524795;18435740;18398822;18314630;18310293;18249304;18206547;18084346;18036394;17940620;17879353;17853334;17823710;17766243;17555500;17555499;17526943;17388795;17356705;17353931;17194968;17188139;17179192;17138574;17050672;17047380;16997566;16951149;16604156;16595707;16368411;16324211;16239140;15754732;15670192;15635078;15489334;15374998;15292357;15281352;15256779;15254225;15240620;15205994;15150273;15070966;15054094;15034196;15031321;15026366;14985373;14559791;14516745;12915685;17671196;21266030;21318185;19847644;16510874;15960975;20480190;21127195;18082152;19079338;19294466;19309299;19391077;19596783;19654304;19749796;19818711;19837273;20058152;20064463;20093773;20453000;20507346;20706287;20961854;16199523;21078971;22187299;22318606;22490989;19913121;20628086;20669561;16510875;16618927;16651450;18029348;20566584;20969866;20616437;20710116;21378168;19068082;18026121;21726266;21252315;22584706;22936661;22543820;22666734;22939629;21264250;21819486;21184284;21830623;22829075;23093699;23435440;22275377;21139048;21627674;22409234;22761894;17803708;21678021;22327296;22090276;21768215;20301710;22026581;22542456;23321498;22878668;23391111;22797925;23027861 4221 E7EN32;E7ENS2;E7EPR4;E7ET29;O00632;Q9GZQ5 AA877856;ABBA01024141;ABBA01024142;ABBA01024143;ABBA01024144;AJ132593;AJ132594;AJ132596;AJ297485;AJ297486;AJ297487;AJ297488;AJ297489;AMYH01003714;AP001462;AY306001;BC002544;BC002664;BE267140;CH471076;EF443091;EF443092;EF443093;EF443094;EF443095;EF443096;EF443097;NG_008929;NM_000244;NM_130799;NM_130800;NM_130801;NM_130802;NM_130803;NM_130804;U93236;U93237;Y12338 AAC51228;AAC51229;AAC51230;AAH02544;AAH02664;AAP74572;ABM81683;ABQ12621;ABQ12622;ABQ12623;ABQ12624;ABQ12625;ABQ12626;ABQ12627;CAA73007;CAC14129;CAC14130;CAC14131;CAC14132;CAC14133;EAW74303;EAW74304;EAW74305;EAW74306;EAW74307;EAW74308;EAW74309;EAW74310;EAW74311;EAW74312;EAW74313;EAW74314;EAW74315;NP_000235;NP_570711;NP_570712;NP_570713;NP_570714;NP_570715;NP_570716;O00255 Hs.423348 1651599;1801804;1805088;1805918;1806048;1806498;1806854;1806922;1807334;1807410;1807482;1807526;1808486;1810308;1812614;1812706;1814532;1816606;1817832;1822212;1823488;1831144;1832506;1833726;1839194;1840134;1842956;1843010;1971268;1971270;1971272;1971274;1971276;1971278;1971280;1971282;1971284;1971286;1971288;1971290;1971292;1971294;1971296;1971298;1971300;1971302;1971304;1971306;1971308;1971310;1971312;1971314;1971316;1971318;1971320;1971322;1971324;1971326;1971328;1971330;1971332;1971334;1971336;1971338;1971340;1971342;1971344;1971346;1971348;1971350;1971352;1971354;1971356;1971358;1971360;1971362;1971364;1971366;1971368;1971370;1971372;1971374;1971376;1971378;1971380;1971382;1971384;1971386;1971388;1971390;1971392;1971394;1971396;1971400;1971402;1971404;1971406;1971408;1971410;1971412;1971414;1971416;1971418;1971420;1971422;1971424;1971428;1971430;1971432;1971434;1971436;1971438;1971440;1971442;1971444;1971446;1971448;1971450;1971454;1971456;1971458;1971460;1971462;1971464;1971466;1971468;1971470;1971474;1971476;1971478;1971480;1971482;1971484;1971488;1971490;1971492;1971494;1971496;1971500;1971502;1971504;1971506;1971508;1971510;1971512;1971514;1971516;1971518;1971520;1971522;1971524;1971526;1971528;1971530;1971532;1971534;1971536;1971538;1971540;1971542;1971544;1971546;1971548;1971554;2115997;2133818;2214938;2214940;2214942;2214944;2214946;2214948;2214950;2214952;2214954;2214956;2214958;2214960;2214962;2214964;2214966;2214968;2214970;2214972;2214974;2214976;2214978;2214980;2214982;2214984 A007D15;D11S1080;D11S4946;ECD01783;ECD03486;ECD03912;ECD03977;ECD04206;ECD04392;ECD04426;ECD04638;ECD04676;ECD04713;ECD04735;ECD05225;ECD06146;ECD07317;ECD07364;ECD08296;ECD09345;ECD09970;ECD12192;ECD12835;ECD16708;ECD17392;ECD18008;ECD20777;ECD21251;ECD22686;ECD22713;REN56517;REN56518;REN56519;REN56520;REN56521;REN56522;REN56523;REN56524;REN56525;REN56526;REN56527;REN56528;REN56529;REN56530;REN56531;REN56532;REN56533;REN56534;REN56535;REN56536;REN56537;REN56538;REN56539;REN56540;REN56541;REN56542;REN56543;REN56544;REN56545;REN56546;REN56547;REN56548;REN56549;REN56550;REN56551;REN56552;REN56553;REN56554;REN56555;REN56556;REN56557;REN56558;REN56559;REN56560;REN56561;REN56562;REN56563;REN56564;REN56565;REN56566;REN56567;REN56568;REN56569;REN56570;REN56571;REN56572;REN56573;REN56574;REN56575;REN56576;REN56577;REN56578;REN56579;REN56580;REN56581;REN56583;REN56584;REN56585;REN56586;REN56587;REN56588;REN56590;REN56591;REN56592;REN56593;REN56594;REN56595;REN56596;REN56598;REN56599;REN56600;REN56601;REN56602;REN56603;REN56604;REN56605;REN56606;REN56607;REN56608;REN56609;REN56611;REN56612;REN56613;REN56614;REN56615;REN56616;REN56617;REN56618;REN56619;REN56621;REN56622;REN56623;REN56624;REN56625;REN56626;REN56628;REN56629;REN56630;REN56631;REN56632;REN56634;REN56635;REN56636;REN56637;REN56638;REN56639;REN56640;REN56641;REN56642;REN56643;REN56644;REN56645;REN56646;REN56647;REN56648;REN56649;REN56650;REN56651;REN56652;REN56653;REN56654;REN56655;REN56656;REN56657;REN56658;REN56661;stSG635700;stSG635701;stSG635702;stSG635703;stSG635704;stSG635705;stSG635708;stSG635709;stSG635710;stSG635711;stSG635713;stSG635714;stSG635715;stSG635716;stSG635717;stSG635719;stSG635720;stSG635721;stSG635722;stSG635723;stSG635724;stSG635725;stSG635726;stSG635728 MEAI;MENIN;SCG2 OTTHUMP00000042868;OTTHUMP00000070175;OTTHUMP00000070176;OTTHUMP00000070180;OTTHUMP00000070181;OTTHUMP00000070182;OTTHUMP00000070184;endocrine adenomatosis, multiple;menin;multiple endocrine neoplasia 1 APPROVED protein-coding ENSG00000133895 7010 00564 131100;613733 REVIEWED 735747 MEP1A meprin A, alpha (PABA peptide hydrolase) 6 6 p12-p11 46869053 46915478 + 46761094 46807519 + 1580863;6480464 8125298;9288916;8262185;19262505;17195012;16378686;16344560;12556482;12477932;12189145;11301339;11278902;11267665;10898933;10620696;10348167;9914532;8760356;8660687;8063866;7774936;7340337;1939172;20806899;20631730;16159877;22326557;22923609;22096485 4224 Q16819 ABBA01050614;AF478685;AK225212;AK290282;AK315246;AK315840;AL161618;AMYH01016329;BC131714;BC143649;BC143650;BC143651;CH471081;DA432559;M82962;NM_005588 AAA21338;AAI31715;AAI43652;AAL85339;BAF82971;BAF98731;BAG37669;EAX04306;NP_005579;Q16819 Hs.179704 1663030;5122869;5124092 D6S2059;RH65261;STS-M82962 PPHA N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit alpha;OTTHUMP00000016556;PABA peptide hydrolase;PPH alpha;bA268F1.1 (meprin A alpha (PABA peptide hydrolase));endopeptidase-2;meprin 1 alpha;meprin A subunit alpha protein-coding ENSG00000112818 7015 02666 600388 VALIDATED 737385 MEP1B meprin A, beta Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011] 18 18 q12.2-q12.3 28023985 28054365 + 29769987 29800367 + 1580863;6480464 9914532;9288916;17195012;16095909;12941954;12556482;12399461;12387727;12093806;11278902;11267665;8760356;8660687;8262185;8063866;7774936;7710697;8939981;20953144;20806899;12477932;14968112;19748582;20379614;20631730;21646356;22879596;22940918 4225 J3KRK1;J3QKX5;Q16820 ABBA01022489;AC011825;AC015563;AMYH01008928;AY695931;BC136559;BC144244;CH471088;NM_005925;X81333 AAI36560;AAI44245;AAU05377;CAA57107;EAX01284;EAX01285;NP_005916;Q16820 Hs.194777 1695682;1729926;1774521;5019337 D18S1025;D18S47;MARC_7239-7240:996687677:1;SHGC-78721 N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit beta;N-benzoyl-L-tyrosyl-p-amino-benzoic acid hydrolase beta subunit;PABA peptide hydrolase;PPH beta;endopeptidase-2;meprin A subunit beta;meprin B APPROVED protein-coding ENSG00000141434 7020 02667 600389 VALIDATED 736255 MEPE matrix extracellular phosphoglycoprotein 4 4 q21.1 88973164 88986968 + 88742563 88767969 + 1580863;6480464 22341070;12477932;11414762;10945470;17474147;19453261;19005008;18547474;15954904;15329369;15292364;15108058;12791601;12489176;20581062;19679205;19801982;19998030;19031789;21312267;21779381;21739089;19808933;22504420;23064961 56955 D6RAC8;D6RFW6;Q8NC19;Q9NQ76 ABBA01063539;AC093768;AF325916;AJ276396;AK075076;AK307774;AMYH01014381;BC128158;CH471057;DC314534;DC326111;DQ854717;NM_001184694;NM_001184695;NM_001184696;NM_001184697;NM_020203 AAI28159;AAK70343;ABI64294;BAC11386;CAB97250;EAX06001;EAX06002;EAX06003;NP_001171623;NP_001171624;NP_001171625;NP_001171626;NP_064588;Q9NQ76 Hs.676357 OF45 OTTHUMP00000161165;OTTHUMP00000161166;OTTHUMP00000219482;matrix extracellular phosphoglycoprotein;matrix, extracellular phosphoglycoprotein with ASARM motif (bone);osteoblast/osteocyte factor 45 protein-coding ENSG00000152595 13361 06908 605912 VALIDATED 1603022 MEPCE methylphosphate capping enzyme 7 7 7 q22.1 94756212 94761548 + 99865465 99869677 + 100026413 100031749 + 6480464 17978174;17643375;14702039;12690205;12477932;12358911;21145461;19615732;12107412;15342556;16712791;18281698;19906723;22863883;22990118;18781797;21890473;16009940;20471949;22190034;22567366 56257 Q7L2J0 AACC02000084;ABBA01013213;AC092849;AF264752;AI432993;AK000264;AK055964;AK291366;AMYH01017734;BC000556;BC016396;BC018935;BP217791;CB152355;CD672398;CH236956;CH471091;NM_001194990;NM_001194991;NM_001194992;NM_019606 AAF74767;AAH00556;AAH16396;AAH18935;BAA91040;BAF84055;BAG51598;EAL23834;EAW76534;EAW76535;EAW76536;EAW76537;NP_001181919;NP_001181920;NP_001181921;NP_062552;Q7L2J0 Hs.178011 1648498;1700950;2143195 RH104102;STS-Z41431;WIAF-1510 BCDIN3;FLJ20257 7SK snRNA methylphosphate capping enzyme;OTTHUMP00000207605;OTTHUMP00000207606;OTTHUMP00000207607;bicoid-interacting protein 3 homolog;bin3 homolog;bin3, bicoid-interacting 3, homolog protein-coding ENSG00000146834 20247 07889 611478 VALIDATED 1354193 MESTIT1 MEST intronic transcript 1, antisense RNA This gene encodes a non-protein coding antisense RNA that is imprinted, and preferentially expressed from the paternal allele. It is located in an intron of MEST gene in the opposite orientation, and shares the promoter region in common with one of the promoters (P2) of MEST gene. The antisense RNA is expressed predominantly in testis and mature motile spermatozoa, suggesting that it may be involved in the regulation of MEST expression during development.[provided by RefSeq, Oct 2010] 7 7 7 q32.2 124922670 124926785 - 130126898 130131013 - 130126898 130131013 - 14962666;12746419;12095916;11821432 317751 AACC02000033;ABBA01057587;AC007938;AF482998;AMYH01017933;CH236950;NR_004382 Hs.627349 MEST-AS1;MEST-IT;MEST-IT1;NCRNA00040;PEG1-AS APPROVED miscrna 17991 607794 REVIEWED 1605813 MESTP1 mesoderm specific transcript pseudogene 1 6 6 6 q22-q23 129995170 129997621 - 129290492 129293143 - 129248901 129251361 - 338470 ABBA01025918;AL445439;AMYH01016660;NG_002694;NG_008678 APPROVED pseudo 29660 INFERRED 4110191 MESTP2 mesoderm specific transcript pseudogene 2 15 15 37233372 37234230 - 60345406 60346264 - 100421572 ABBA01038954;AC009654;AMYH01006689;NG_025325 APPROVED pseudo 18208 INFERRED 3231977 MESTP3 mesoderm specific transcript pseudogene 3 4 4 4 p15.1 29275271 29276207 - 28433964 28434903 - 28824869 28825805 - 645641 ABBA01032754;AC096566;AMYH01014087;NG_022008 APPROVED pseudo 38553 INFERRED 3132381 MESTP4 mesoderm specific transcript pseudogene 4 3 3 3 p24.1 29065716 29066767 + 29103832 29104883 + 29128826 29131107 + 22747683 131572 ABBA01024972;AC097361;AMYH01013051;NG_028940 APPROVED pseudo 38554 INFERRED 1323243 MESDC1 mesoderm development candidate 1 15 15 15 q13 58230781 58233831 + 79081028 79083400 + 81293295 81296345 + 6480464 15489334;15146197;12477932;11247670;16989816;19322201;22179486 59274 Q9H1K6 ABBA01060633;AC068870;AMYH01006852;AY007810;BC001373;BC084554;CH471136;CN370100;DN995580;NM_022566 AAG41058;AAH84554;EAW99108;NP_072088;Q9H1K6 Hs.513071 1696916;1788716 RH101926;RH136635 MGC99595 OTTHUMP00000185570;mesoderm development candidate 1 protein-coding ENSG00000140406 13519 11300 VALIDATED 1603631 MESP1 mesoderm posterior 1 homolog (mouse) 15 15 15 q26.1 66695858 66697300 - 88094110 88095552 - 90293098 90294540 - 6480464 11578861;18297060;12477932;22826236;8787751;15342556 55897 Q9BRJ9;Q9NSF0 ABBA01053019;AC079075;AL357533;AL357534;AL357535;AL357570;AL357571;AMYH01006916;BC006219;BP212916;CH471101;NM_018670 AAH06219;ABZ92404;CAB93425;CAB93426;CAB93427;EAX02066;NP_061140;Q9BRJ9 Hs.447531 1770372 RH11209 MGC10676;bHLHc5 OTTHUMP00000194686;class C basic helix-loop-helix protein 5;mesoderm posterior protein 1 protein-coding 29658 10070 608689 VALIDATED 731631 MERTK c-mer proto-oncogene tyrosine kinase This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008] 2 2 q14.1 112372662 112503416 + 112656191 112786945 + 1582496;1580863;6480464;7240710 15130911 8086340;19541935;19403518;18922854;18815424;18620092;18587056;18250462;18174230;18039660;17047157;17005688;16837475;16710167;22841784;16675557;16335952;15733062;15479819;15146197;15111602;12768229;12477932;11727200;11062461;10343112;8889548;8702477;8621659;7688222;8939948;9891051;20130272;20591486;20664904;12920122;15188402;15231748;16288044;17626743;18246816;19922767;20300561;20379614;20637106;20098747;20538656;20959443;20978472;20801516;20546121;15673687;21384080;23065156;23585477;21542987;20654219;21677792;19204785;21347448;18395422;21496228;21792939;21890473;21987572;22939624;23000965;19953087;21139048;21906983;21833088;22363695;20301590;22180149;22997156;22469987;23390493;22053931;22942426 10461 E9PD22;E9PHX8;H7C3L9;Q12866 ABBA01005789;ABBA01005790;ABBA01005791;ABBA01005792;AC093675;AC104651;AF366903;AK026681;AK294196;AK308695;AK316584;AL705756;AMYH01010946;AMYH01010947;AMYH01010948;AW627665;BC114917;BC114918;BM719997;BX474860;CA454601;CH471245;CN371299;CN371300;D16316;NG_011607;NM_006343;U08023 AAB60430;AAI14918;AAI14919;AAK54121;AAX93144;AAY24213;BAA03823;BAG38172;BAG57511;EAW52096;EAW52097;NP_006334;Q12866 Hs.306178 1298183;1667507;1710532;1712891;1764927;1776548;1777244;1784106;2110887;2123265;2129616;5120718;5491816;7184429 D14S1201;D2S1896;D2S1987;D2S212E;GDB:372731;MERTK;RH121080;RH70546;SHGC-148485;SHGC-153615;SHGC-37233;SHGC-86295;STS-U08023 MER;MGC133349;RP38;c-mer MER receptor tyrosine kinase;OTTHUMP00000161952;OTTHUMP00000203538;STK kinase;proto-oncogene c-Mer;receptor tyrosine kinase MerTK;tyrosine-protein kinase Mer APPROVED protein-coding ENSG00000153208 7027 05269 604705;613862 REVIEWED 1321194 MESDC2 mesoderm development candidate 2 15 15 15 q13 58205577 58219691 - 79055150 79069260 - 81268095 81282205 - 1580863;6480464 11247670;16989816;15917269;15489334;12975309;12581525;12477932;12168954;10737800;10508479;7788527;19746449;21397183;21337463;21832049;21907199;21900206;22190034 23184 B4DW84;H0YLI4;Q14696 ABBA01060632;ABBA01060633;AC068870;AK026606;AMYH01006852;AY359110;BC009210;BC012746;BE004295;CH471136;CS185566;D42039;NM_015154 AAH09210;AAH12746;AAQ89468;BAA07640;CAJ42747;EAW99109;EAW99110;NP_055969;Q14696 Hs.578450;Hs.732380 1771018;2114717;2153027;2169521 D15S894;RH17444;RH25309;WI-13829 BOCA;KIAA0081;MESD LDLR chaperone MESD;mesoderm development protein;renal carcinoma antigen NY-REN-61 protein-coding ENSG00000117899 13520 12129 607783 VALIDATED 1606451 MESP2 mesoderm posterior 2 homolog (mouse) This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008] 15 15 15 q26.1 66722377 66724773 + 88120593 88122989 + 90319589 90321985 + 6480464;7240710 18485326;16996494;15122512;14516699;12477932;11578861;22744456;20301771;20687255 145873 H0YKZ5;Q0VG99 ABBA01053024;AC079075;AL360139;AMYH01006918;BC111413;BK000142;NG_008608;NM_001039958 AAI11414;DAA00304;NP_001035047;Q0VG99 Hs.37311 1778579 STS-W74095 SCDO2;bHLHc6 class C basic helix-loop-helix protein 6;mesoderm posterior protein 2 APPROVED protein-coding ENSG00000188095 29659 605195;608681 REVIEWED 1345318 MEST mesoderm specific transcript This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011] 7 7 q32 129913282 129933369 + 130126016 130146138 + 6480464 17353931;9158153;18029348;18676680;18644838;18585117;17450433;16338457;15547750;12754712;12690205;12477932;12095916;12023987;11920156;11821432;11754049;11718568;11536368;10958657;10955473;10860668;10679925;10631159;10554015;9781054;9526615;9192843;8884280;19019082;19170196;19625176;19692168;20628624;20339302;17192395;21575949;21832049;22249249;22456293;15146197;16344560;23209187;21900206;22531794;23415968;21988832 4232 A4D1L9;B4DQW6;C9JCM6;C9JG66;C9JRA9;C9JSW2;C9JUD2;C9JW74;C9JWU9;Q5EB52;R4GN52 AA728839;AACC02000033;AB045582;ABBA01057587;AC007938;AK098397;AK298984;AK312688;AMYH01017933;AU118070;BC002413;BC011908;BC014564;BC018695;BC090049;BG831799;BI459412;BT007056;CH236950;CH471070;CN425918;CR457040;CR627364;D78611;D87367;DA487705;DB454206;DC367784;NG_009226;NM_001253900;NM_001253901;NM_001253902;NM_002402;NM_177524;NM_177525;Y11534 AAH02413;AAH11908;AAH14564;AAH18695;AAH90049;AAP35705;ABM81688;ABM83690;ABM84851;ABM87003;BAA11432;BAA21757;BAC02716;BAG35568;BAG61078;CAA72297;CAG33321;CAH10465;EAL24086;EAL24087;EAW83765;EAW83766;EAW83767;NP_001240829;NP_001240830;NP_001240831;NP_002393;NP_803490;NP_803491;Q5EB52 Hs.270978 1847069;2138856;2218754 COPG2_4062;GDB:3755019;RH12524 DKFZp686L18234;MGC111102;MGC8703;PEG1 OTTHUMP00000210358;OTTHUMP00000210359;OTTHUMP00000210360;OTTHUMP00000210361;OTTHUMP00000210362;OTTHUMP00000210364;OTTHUMP00000210367;mesoderm specific transcript homolog;mesoderm-specific transcript homolog protein;paternally expressed gene 1;paternally-expressed gene 1 protein APPROVED protein-coding ENSG00000106484 7028 06776 601029 REVIEWED 1605558 METAP1D methionyl aminopeptidase type 1D (mitochondrial) The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008] 2 2 2 q31.1 166481016 166561688 + 172573050 172653833 + 172864804 172945587 + 6480464 14532271;16568094;14702039;12477932;19913121;20628086;20379614;20877624 254042 Q6UB28 ABBA01020733;ABBA01020734;AC015976;AK093827;AMYH01011265;AY374142;BC029123;BC113644;BC143913;CH471058;CQ819354;DQ005576;NM_199227 AAI13645;AAR27795;AAY55948;CAG34354;EAX11188;EAX11189;EAX11190;EAX11191;NP_954697;Q6UB28 Hs.298250 MAP 1D;MAP1D;MetAP 1D;Metap1l CDS of metAP-3 within PCR fragment;OTTHUMP00000163125;methionine aminopeptidase 1D, mitochondrial;methionyl aminopeptidase type 1D, mitochondrial;peptidase M 1D APPROVED protein-coding 32583 17462 610267 VALIDATED 70824 MET met proto-oncogene The proto-oncogene MET product is the hepatocyte growth factor receptor and encodes tyrosine-kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce the alpha and beta subunits, which are disulfide linked to form the mature receptor. Various mutations in the MET gene are associated with papillary renal carcinoma. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 q31 116099695 116225676 + 116312459 116438440 + 1600122;1600123;1600124;70557;1580863;1642762;2299174;2317613;2317505;2317526;2317534;2317601;2317487;2317495;2317532;2317574;2317235;2317441;2317559;2317467;2317469;2317493;2317515;2317546;2317547;2317555;2317520;2317530;2317513;2317516;2317606;2317607;2317605;2317575;2317582;2317554;2317564;2317585;2317612;2317578;5133243;5133242;5133241;5490965;6480464;6484113;6907045;7240710 9140397;9927037;17053076;11719459;14685170;18175071;9211490;17113948;11830493;9815967;14656942;17549731;17311762;7693339;18208800;15448002;20019837;8781331;18194445;17940345;17405187;17009398;11956651;10489112;8997394;16827730;7866999;17065554;16958060;11737224;10590366;12114431;17154373;19956499;7639332;9308731;15892172;8077049;16818635;21277552;20951313;20519133;19506583 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252;REN66253;REN66254;REN66255;REN66256;REN66257;REN66258;REN66259;REN66260;REN66261;REN66262;REN66263;REN66264;REN66265;REN66266;REN66267;REN66268;REN66269;REN66270;REN66271;REN66272;REN66273;REN66274;REN66275;REN66276;REN66277;RH17997;RH45583;RH80437;STS-AA005141;WI-12662;stSG598081;stSG598083;stSG598084;stSG598085;stSG598086;stSG598087;stSG598088;stSG598089;stSG598090;stSG598091;stSG598092;stSG598093;stSG598094;stSG598095;stSG598096;stSG598097;stSG598098;stSG598099;stSG598100;stSG598101;stSG598102;stSG598104;stSG598105;stSG598106;stSG598107;stSG598108;stSG598109;stSG598110;stSG598111;stSG598112;stSG598113;stSG598114;stSG598115;stSG598116;stSG598117;stSG598118;stSG598119;stSG598120;stSG598121;stSG598122;stSG598123;stSG598124;stSG598125;stSG598126;stSG598127;stSG598128;stSG598129;stSG598130;stSG598131;stSG598132;stSG598133;stSG598134;stSG598135;stSG598136;stSG598137;stSG598138;stSG598139;stSG598140;stSG598141;stSG598142;stSG598143;stSG598144;stSG598145;stSG598146;stSG598147;stSG598148;stSG598149;stSG598150;stSG598151;stSG598152;stSG598153;stSG598155;stSG598156;stSG598157;stSG598158;stSG598159;stSG598160;stSG598161;stSG598162;stSG598163;stSG598165;stSG598166;stSG598167;stSG598168;stSG598169;stSG598170;stSG598171;stSG598172 AUTS9;HGFR;RCCP2;c-Met;cMet HGF receptor;HGF/SF receptor;OTTHUMP00000024917;OTTHUMP00000069168;SF receptor;hepatocyte growth factor receptor;mesenchymal-epithelial transition factor;met proto-oncogene tyrosine kinase;oncogene MET;proto-oncogene c-Met;scatter factor receptor;tyrosine-protein kinase Met APPROVED protein-coding ENSG00000105976 7029 01280 114550;164860;605074;611015 REVIEWED 1348183 METRNL meteorin, glial cell differentiation regulator-like 17 17 17 q25.3 77634605 77649087 + 78630856 78646012 + 81037567 81052592 + 6480464 14702039;12477932 284207 B3KSJ5;I3L0R0;Q641Q3 A75737;ABBA01019714;ABBA01019715;AC130371;AC144831;AF086149;AK093748;AMYH01008748;BC050568;BC082252;BC118558;BC118638;CH471099;HC434525;NM_001004431 AAH50568;AAH82252;AAI18559;AAI18639;BAG52757;CAB58552;CBJ57243;EAW89833;NP_001004431;Q641Q3 Hs.378821 1697480;2158700 RH102241;SHGC-56898 MGC99788 meteorin-like protein protein-coding ENSG00000176845 27584 11255 PROVISIONAL 1353878 METRN meteorin, glial cell differentiation regulator Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 965338 967645 + 705174 707481 + 765173 767480 + 6480464 15616553;15489334;15085178;14702039;12477932;11157797 79006 H3BSC8;H3BUM1;I3L2T3;J3KMW6;Q9UJH8 ABBA01030353;AE006464;AK057053;AL360260;AMYH01007003;BC000662;CH471112;CS179964;HB435052;NM_024042;Z97653 AAH00662;AAK61247;CAL15420;CAZ68030;EAW85747;EAW85748;NP_076947;Q9UJH8 Hs.533772;Hs.732288 2116206 RH36609 C16orf23;MGC2601;c380A1.2 OTTHUMP00000045518;meteorin APPROVED protein-coding 14151 14388 610998 VALIDATED 1313634 METAP1 methionyl aminopeptidase 1 4 4 4 q23 97214261 97281435 + 100175620 100202983 + 99916788 99983960 + 1580863;6480464 16386852;17353931;14532271;17929833;7788527;17114291;16344560;16274222;15635413;15592455;15489334;12477932;12144506;20521764;19898482;20379614;21139048;21906983 23173 D6RF24;F5GXS7;H0Y903;H0Y955;H0Y9L0;H0YAI3;P53582 ABBA01063668;AC019131;AK304239;AK309465;AMYH01014419;BC030054;CH471057;CR936632;D42084;DA178462;NM_015143 AAH30054;BAA07679;BAG65108;CAI56775;EAX06082;EAX06083;NP_055958;P53582 Hs.480364 1645836;1686608;1769782;2120299;2127148;2169725;2172608 D4S3163;G33395;RH17446;RH91583;SHGC-59276;SHGC-59522;SHGC-59855 DKFZp781C0419;KIAA0094;MAP1A;MetAP1A MAP 1;OTTHUMP00000219920;metAP 1;methionine aminopeptidase 1;peptidase M 1 protein-coding ENSG00000164024 15789 10071 610151 VALIDATED 732103 METAP2 methionyl aminopeptidase 2 This gene is a member of the methionyl aminopeptidase family and encodes a protein that binds 2 cobalt or manganese ions. This protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent protein. Increased expression of this gene is associated with various forms of cancer and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. A pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Jul 2008] 12 12 q22 94391953 94433746 + 95867822 95909615 + 1580863;6480464 8858118;15102683;18828628;18264137;17446530;16790550;16632353;16386852;16274222;16267007;16160854;15962312;15814649;15544353;15489334;15336565;15126329;14702039;14532271;12718546;12581743;12477932;12118091;11994292;11485930;11123929;10388536;9860943;9812898;9177176;8098621;7873610;7738010;7644482;15782160;20689807;19703310;18337751;19446321;23000965;23161775;20521764;22863883;21832049;15840729;21937698;18781797;21139048;21890473;21906983;21963094;22505724 10988 B4DUX5;F8VQZ7;F8VRR3;F8VSC4;F8VY03;F8VZX9;G3V1U3;G3XA91;P50579 ABBA01053335;ABBA01053336;AC018475;AK055692;AK091730;AK125296;AK300836;AK315559;AMYH01004671;BC013782;BC016008;CH471054;DW409106;NM_006838;U13261 AAC63402;AAH13782;AAH16008;ABM81939;ABM85119;BAC03733;BAG37935;BAG54178;BAG62487;EAW97537;EAW97538;EAW97539;NP_006829;P50579 Hs.444986 1669514;1671061;1686656;1690752;1736250;1856912;2124156;2127911;2134411;2174182 D12S1183E;D12S1199E;D12S1806;RH39871;RH46408;RH92290;SGC31600;SHGC-64320;STS-N33173;WI-21736 MAP2;MNPEP;p67;p67eIF2 MAP 2;OTTHUMP00000243392;OTTHUMP00000243393;OTTHUMP00000243394;OTTHUMP00000243395;OTTHUMP00000243398;OTTHUMP00000243399;eIF-2-associated p67 homolog;initiation factor 2-associated 67 kDa glycoprotein;metAP 2;methionine aminopeptidase 2;peptidase M 2 APPROVED protein-coding ENSG00000111142 16672 03522 601870 REVIEWED 1601929 METTL11B methyltransferase like 11B 1 1 1 q24.2 143225003 143246729 + 168381873 168403522 + 170115188 170136923 + 6480464 16710414;12477932 149281 Q5VVY1 ABBA01027944;AL445203;AMYH01001490;BC157860;BC171858;NM_001136107 AAI57861;AAI71858;NP_001129579;Q5VVY1 Hs.553612 1775970 AL009846 C1orf184;HOMT1B;NTM1B OTTHUMP00000034162;X-Pro-Lys N-terminal protein methyltransferase 1B;alpha N-terminal protein methyltransferase 1B;methyltransferase-like protein 11B protein-coding ENSG00000203740 31932 VALIDATED 1605185 METTL15P1 methyltransferase like 15 pseudogene 1 3 3 3 q25.31 154852536 154856162 - 157914707 157915518 - 156429192 156432818 - 100130758 P0C7V9 ABBA01058839;AC106708;AMYH01013600;CH471052;NG_011761 EAW78723;P0C7V9 METT5D2 APPROVED pseudo 31926 INFERRED 5128571 METTL15P2 methyltransferase like 15 pseudogene 2 12 12 12 q14.1 59108747 59109610 - 57733366 57734232 - 59447102 59447965 - 644915 ABBA01026681;AC068305;AMYH01004527;NG_021691 pseudo 39559 INFERRED 5128570 METTL15P3 methyltransferase like 15 pseudogene 3 X X X p22.11 26574644 26575861 + 22363636 22364856 + 22453715 22454932 + 729650 ABBA01072078;AMYH01022143;BX294437;NG_022648 2169187 DXS8181 pseudo 39558 INFERRED 1352209 METTL1 methyltransferase like 1 This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008] 12 12 12 q13 57819946 57823509 - 56448521 56452602 - 58162351 58165914 - 1580863;6480464 15861136;12403464;16189514;15489334;12539042;12477932;10329009;8125298;7566098;19525955;19692168;20394945;19913121;20628086;18029348;22863883;22939629;21906983;21890473;23000965;23349634 4234 F8VSD9;H0YHU4;H0YHX0;H0YIH0;Q9UBP6 AA317248;ABBA01026694;AC025165;AI168455;AK223202;AK314851;AMYH01004525;BC000550;BG420288;BQ651940;CH471054;NG_007076;NM_005371;NM_023033;W56190;X96698;Y18642;Y18643 AAH00550;BAD96922;BAG37368;CAA65470;CAA77238;CAA77239;EAW97066;EAW97070;EAW97071;NP_005362;NP_075422;Q9UBP6 Hs.42957 1848538 A007H24 C12orf1;FLJ95748;TRM8;TRMT8;YDL201w D1075-like gene product;OTTHUMP00000196422;OTTHUMP00000196423;methyltransferase-like 1;methyltransferase-like protein 1;tRNA (guanine(46)-N(7))-methyltransferase;tRNA (guanine-N(7)-)-methyltransferase;tRNA(m7G46)-methyltransferase APPROVED protein-coding ENSG00000037897 7030 06834 604466 REVIEWED 1604914 METTL10 methyltransferase like 10 10 10 10 q26.13 120221319 120254368 - 126437396 126470429 - 126447406 126480439 - 6480464 14702039;12477932;16385451;21906983;23251661 399818 G3V238;M0QZ67;Q5JPI9;Q8TC28 ABBA01034149;ABBA01034150;ABBA01034151;ABBA01034152;AC068896;AF318345;AK022354;AL832292;AMYH01003156;AMYH01003157;BC026167;NM_212554 AAH26167;AAL55852;CAI46179;NP_997719;Q5JPI9 Hs.741365 1698204;2162102 D10S1451;RH102638 C10orf138;Em:AC068896.3;FLJ13019 OTTHUMP00000020696;methyltransferase-like protein 10 protein-coding 33787 14216 VALIDATED 2304141 METTL12 methyltransferase like 12 11 11 11 q12.3 59762357 59764501 + 62189355 62191499 + 62432779 62434923 + 6480464 17154719;16554811;16368877;15489334;12477932 751071 A8MUP2 ABBA01003235;AK297138;AMYH01003690;AP001458;BC041359;BC147001;BC147011;BG676615;BX348415;BY796224;NM_001043229 A8MUP2;AAI47002;AAI47012;BAH12507;NP_001036694 Hs.640726 5015861;5037552;7185938 D10S16;D8S2279 U99HG OTTHUMP00000236144;Putative methyltransferase LOC751071, mitochondrial;methyltransferase LOC751071, mitochondrial-like;methyltransferase-like protein 12, mitochondrial protein-coding 33113 VALIDATED 1605646 METTL14 methyltransferase like 14 4 4 4 q26 116967249 116992643 + 119826022 119851538 + 119606574 119632090 + 6480464 14702039;12477932;10997877;20332099;17207965;22939629;21139048;21906983 57721 D6RBL4;D6RD73;Q9HCE5 AB046847;ABBA01044692;ABBA01044693;AC110079;AK055555;AK296056;AMYH01014484;BC006565;BC007449;CH471229;NM_020961 AAH06565;AAH07449;ADQ32728;BAB13453;BAB70954;BAG58819;EAW73651;EAW73652;NP_066012;Q9HCE5 Hs.744258 1769436;1775472;2151813 SHGC-24254;SHGC-50843;SHGC-7036 KIAA1627 OTTHUMP00000219836;OTTHUMP00000219837;methyltransferase-like protein 14 protein-coding ENSG00000145388 29330 13879 PROVISIONAL 5132551 METTL21AP1 methyltransferase like 21A pseudogene 1 21 21 25804964 25805583 - 40607327 40607946 - 100421629 ABBA01009346;AF129408;AMYH01012245;NG_025044;NG_029919 1810370;1810714;1816784;1897934;1897936;1897938;1897940;1897942;1897944;1897946;1897948;1897950;1897952;1897954;1897956;1897958 ECD06177;ECD06352;ECD09437;REN19760;REN19761;REN19762;REN19763;REN19764;REN19765;REN19766;REN19767;REN19768;REN19769;REN19770;REN19771;REN19772 pseudo 41921 INFERRED 1604624 METTL13 methyltransferase like 13 1 1 1 q24-q25.3 144860163 144876258 + 170017384 170033479 + 171750761 171766856 + 6480464 16710414;16341674;15489334;14702039;12477932;12168954;10810093;10048485;8125298;17353931;22939629;21139048;21890473;21906983;21145461;22355534;21963094;22053931;22505724 51603 B4E2X3;C4B4C6;H3BLW2;Q96J11 AB020666;AB242174;AB242175;ABBA01027923;ABBA01027924;AF132936;AK001172;AK027552;AK027621;AK027886;AK074552;AK094818;AK124482;AK129561;AK223493;AK291740;AK304471;AL031864;AL049669;AMYH01001497;BC006814;BC029083;BI091265;BM833930;BX094025;CH471067;NM_001007239;NM_014955;NM_015935 AAD27711;AAH06814;AAH29083;BAA74882;BAB55240;BAC11055;BAD97213;BAF84429;BAG50862;BAG51342;BAG51390;BAG65285;BAH58098;BAH58099;CAB41243;EAW90911;EAW90912;EAW90913;EAW90914;NP_001007240;NP_055770;NP_057019;Q8N6R0 Hs.494705 2118470;2142956;2163512;5016478;5022450;5022651;5114937 A008C33;D10S275;D11S2921;GDB:434012;RH78865;SHGC-75891;SHGC-75916 5630401D24Rik;CGI-01;FLJ10310;KIAA0859;feat OTTHUMP00000032874;OTTHUMP00000032999;OTTHUMP00000033000;antiapoptotic protein FEAT;methyltransferase-like protein 13 protein-coding ENSG00000010165 24248 13821 VALIDATED 1604216 METTL15 methyltransferase like 15 11 11 11 p14.1 28275664 28500176 + 28088435 28311519 + 28129798 28355054 + 6480464 21145461;16344560;14702039;12477932;21890473;23251661 196074 A6NJ78;B5MC64;F8WD83 ABBA01060956;ABBA01060957;ABBA01060958;ABBA01060959;AC023206;AC087376;AC104978;AK091298;AL832668;AMYH01003457;BC030997;BC066900;BC105287;CH471064;DB327106;DB458698;NM_001113528;NM_152636 A6NJ78;AAH30997;AAI05288;BAC03631;EAW68266;EAW68267;EAW68268;EAW68269;NP_001107000;NP_689849 Hs.243326 1662298;1679664;1773993;1847447;2120492;2158912;2165284;2183606;5019745 A009N46;G32693;RH38920;RH66431;RH68038;SHGC-33830;SHGC-36288;SHGC-64847;WI-16368 FLJ33979;METT5D1 OTTHUMP00000197377;OTTHUMP00000197378;OTTHUMP00000197379;methyltransferase 5 domain containing 1;methyltransferase 5 domain-containing protein 1;probable S-adenosyl-L-methionine-dependent methyltransferase METT5D1;probable methyltransferase-like protein 15;putative S-adenosyl-L-methionine-dependent methyltransferase METT5D1 APPROVED protein-coding ENSG00000169519 26606 08750 VALIDATED 1601980 METTL17 methyltransferase like 17 14 14 14 q11.2 1318833 1326059 + 20527805 20535034 + 21457965 21465194 + 6480464 16713569;16189514;12477932;11278769;18029348;17207965;20877624;22990118;20186120;21900206 64745 B4E298;G3V353;G3V3X6;G3V4H5;G3V4P2;H0YJW1;Q9H7H0 ABBA01061237;AF321002;AF321003;AK024512;AK303484;AK304180;AK315999;AL355922;AMYH01005593;BC005053;BG437086;CH471078;HI574204;HI574206;NM_001029991;NM_022734;U56431 AAH05053;AAK08200;AAK08201;ADQ31778;BAB14919;BAG64520;BAG65060;BAH14370;CBX47591;CBX47592;EAW66432;EAW66433;EAW66434;NP_001025162;NP_073571;Q9H7H0 Hs.512693 1682207;2158861;2170117 D6S1417;RH25166;SHGC-24064 FLJ20859;METT11D1 OTTHUMP00000028294;OTTHUMP00000164258;false p73 target gene protein;methyltransferase 11 domain containing 1;methyltransferase 11 domain-containing protein 1;methyltransferase-like protein 17, mitochondrial;protein RSM22 homolog, mitochondrial APPROVED protein-coding ENSG00000165792 19280 13379 VALIDATED 1604299 METTL16 methyltransferase like 16 17 17 17 p13.3 2335440 2431686 - 2266093 2361950 - 2319343 2415200 - 6480464 18021804;16344560;14702039;12477932;7698749;20602751;17643375;21832049;22939629 79066 B7Z3X7;I3L362;I3L3W3;I3L4V1;K7EKQ8;Q86W50 ABBA01054705;ABBA01054706;ABBA01054707;ABBA01054708;ABBA01054709;AC006435;AC015799;AK027410;AK294547;AK296464;AL832612;AMYH01008013;AMYH01008014;AMYH01008015;BC001213;BC050603;BX647255;CH471108;DB227557;NM_024086 AAH01213;AAH50603;BAB55094;BAH11803;BAH12363;CAD89999;EAW90537;EAW90538;EAW90539;NP_076991;Q86W50 Hs.632237 1649557;1729564;1734444;1734464;1736638;1746069;1746075;1746079;2120390;5037552;7184717 D17S1413E;D17S1430E;D17S1478E;D17S2111;D17S379;D8S2279;G54859;G54860;G54862;WI-13902 METT10D;MGC3329 methyltransferase 10 domain containing;methyltransferase 10 domain-containing protein;methyltransferase-like protein 16;putative methyltransferase METT10D APPROVED protein-coding 28484 14556 VALIDATED 1602640 METTL20 methyltransferase like 20 12 12 12 p11.21 11622361 11644279 + 31703388 31713168 + 31800094 31822016 + 6480464 16344560;12477932;17207965;23349634 254013 F5H481;G5EA40;Q8IXQ9 ABBA01031743;ABBA01031744;AC023157;AC068774;AK290248;AL832339;AMYH01004367;BC039107;BC039417;BC039535;CH471116;DA303137;NM_001135863;NM_001135864;NM_173802 AAH39107;AAH39535;ADQ33124;BAF82937;EAW88545;EAW88546;EAW88547;EAW88548;NP_001129335;NP_001129336;NP_776163;Q8IXQ9 Hs.740628 1727425;1761059;1767747;2153618;2163568;5015861;5022450;5022588;7185938 D10S16;D10S275;D5S1597E;G62970;RH11230;SHGC-145009;SHGC-56513;WI-20441 C12orf72;MGC50559 OTTHUMP00000240053;OTTHUMP00000240054;OTTHUMP00000240055;OTTHUMP00000240056;hypothetical protein LOC254013;methyltransferase-like protein 20 APPROVED protein-coding ENSG00000139160 28739 14666 615256 VALIDATED 5490883 METTL21EP methyltransferase like 21E, pseudogene 13 13 q33.1 102341011 102347044 + 103532449 103548383 + 6480464 14702039;19773279 121952 A6NDL7 ABBA01027069;AK096424;AL137246;AL157769;AMYH01005342;NR_026965 A6NDL7 Hs.660773 1336803;1650388;2190213;5022578;7186116 99-79427;D13S280;D1S1423;RH47429 METTL21CP1 APPROVED pseudo ENSG00000250878 41948 PROVISIONAL 1603373 METTL18 methyltransferase like 18 1 1 1 q24.2 142871462 142873823 - 168028294 168030655 - 169761670 169764061 - 6480464 19064610;16710414;15489334;12477932;16169070;17207965;19536175;20864530;21900206;23349634 92342 O95568;Q5TI78 ABBA01027946;AK313909;AL021940;AL035369;AL556604;AMYH01001490;AY744366;BC008679;CH471067;CR450330;NM_033418 AAH08679;AAU95377;ADQ32334;BAG36632;CAA23019;CAG29326;EAW90861;EAW90862;NP_219486;O95568 Hs.33922 1645514;1656700;5093896 A009Y28;AL009882;G32987 AsTP2;C1orf156;HPM1;MGC9084;RP1-117P20.4 OTTHUMP00000033956;OTTHUMP00000033958;arsenic-transactivated protein 2;histidine protein methyltransferase 1 homolog;hypothetical protein MGC9084;methyltransferase like 18;methyltransferase-like protein 18 APPROVED protein-coding ENSG00000171806 28793 14713 615255 VALIDATED 1343913 METTL24 methyltransferase like 24 6 6 6 q21 111313748 111426096 - 110673842 110786168 - 110567149 110679475 - 728464 Q5JXM2 ABBA01026119;ABBA01026120;AL050350;AL445068;AMYH01016588;NM_001123364 NP_001116836;Q5JXM2 Hs.722171 1703538;1726397;2133995 D6S1302;G62499;SHGC-82730 C6orf186;FLJ45203;dJ71D21.2 D-aspartate oxidase-like;OTTHUMP00000017000;UPF0624 protein C6orf186;chromosome 6 open reading frame 186;methyltransferase-like protein 24 APPROVED protein-coding ENSG00000053328 21566 INFERRED 1602980 METTL21A methyltransferase like 21A 2 2 2 q33.3 202237420 202251254 - 208185071 208197953 - 208473839 208489973 - 6480464 14702039;12477932;23824909;23183491;23349634 151194 C9JES0;C9JSX1;H7BXH9;Q8WXB1 ABBA01062680;ABBA01062681;ABBA01062682;ABBA01062683;AC079767;AF455817;AK093812;AMYH01011447;AMYH01011448;AMYH01011449;BC009462;BC033720;BG832122;CH471063;NM_001127395;NM_145280 AAH09462;AAH33720;AAL66295;AAX93175;BAC04229;EAW70411;EAW70412;EAW70413;EAW70414;EAW70415;EAW70416;EAW70417;NP_001120867;NP_660323;Q8WXB1 Hs.664764 1941836;1941838;5015861;5020274;5022578;5037552;5037670;7185938 D10S16;D1S1423;D3S4354;D8S2279;L18441;REN41760;REN41761 FAM119A;HCA557b;MGC45373 OTTHUMP00000163862;OTTHUMP00000206647;OTTHUMP00000206648;OTTHUMP00000206651;OTTHUMP00000206652;family with sequence similarity 119, member A;hepatocellular carcinoma-associated antigen 557b;hypothetical protein LOC151194;methyltransferase-like protein 21A;protein N-lysine methyltransferase METTL21A;protein-lysine methyltransferase METTL21A APPROVED protein-coding ENSG00000144401 30476 14090 615257 VALIDATED 1606433 METTL21C methyltransferase like 21C 13 13 13 q33.1 84180440 84189196 - 102136098 102144855 - 103338097 103346854 - 12477932;23349634 196541 Q5VZV1 ABBA01027071;AL158063;AMYH01005341;BC132748;BC132750;BX089441;CH471085;NM_001010977 AAI32749;AAI32751;ADR83125;EAX09060;EAX09061;EAX09062;NP_001010977;Q5VZV1 Hs.508623 1677058;1726471 G62615;RH45836 C13orf39 OTTHUMP00000018663;hypothetical protein LOC196541;methyltransferase like 21C;methyltransferase-like protein 21C;protein-lysine methyltransferase METTL21C APPROVED protein-coding ENSG00000139780 33717 17315 615259 VALIDATED 1604024 METTL21B methyltransferase like 21B 12 12 12 q14.1 57823978 57833935 + 56452650 56462591 + 58166383 58176324 + 6480464 11256614;16381901;15489336;12477932;11076863;20190274;19322201;23349634 25895 F8VZI8;F8W226;Q96AZ1 ABBA01026694;AC025165;AF455816;AK024983;AK292276;AL050100;AMYH01004525;BC016395;BC099841;BC103501;CH471054;NM_015433;NM_206914 AAH16395;AAH99841;AAI03502;AAL66294;BAB15049;BAF84965;CAB43271;CAL38120;CAL38637;EAW97072;EAW97073;EAW97074;NP_056248;NP_996797;Q96AZ1 Hs.632720 1678041;1856037;2126516 RH45049;RH91309;SHGC-37617 DKFZp586D0919;FAM119B OTTHUMP00000243870;OTTHUMP00000243872;OTTHUMP00000243873;family with sequence similarity 119, member B;hepatocellular carcinoma-associated antigen 557a;hepatocellularcarcinoma-associated antigen HCA557a;hypothetical protein LOC25895;methyltransferase-like protein 21B;protein-lysine methyltransferase METTL21B APPROVED protein-coding ENSG00000123427 24936 08532 615258 VALIDATED 1601964 METTL22 methyltransferase like 22 16 16 16 p13.2 8883593 8908224 + 8623028 8647580 + 8715527 8740079 + 6480464 14702039;12477932;23349634 79091 H3BSA9;H3BTF5;H3BTI6;H3BTR2;H3BV20;I3L2J5;I3L3I8;I3L483;Q9BUU2 ABBA01019724;AC007224;AC138420;AK022495;AK315383;AMYH01007136;AY203956;BC001908;BC103725;CH471112;NM_024109 AAH01908;AAP34479;BAB14058;BAG37776;EAW85210;EAW85211;EAW85212;NP_077014;Q9BUU2 Hs.306380 1669854 WI-21012 C16orf68;FLJ12433;MGC2654 LP8272;OTTHUMP00000160106;hypothetical protein LOC79091;methyltransferase-like protein 22 APPROVED protein-coding ENSG00000067365 28368 08324 615261 VALIDATED 2298732 METTL23 methyltransferase like 23 17 17 17 q25.1 71315319 71322335 + 72234545 72241557 + 74722912 74729962 + 6480464 12477932;16344560;15146197;21900206;23349634 124512 H9ZYJ0;K7EJ00;K7EK32;K7EL83;K7EMR3;K7ENU9;K7EPR8;K7EPT5;K7ERS2;K7ESG7;Q86XA0;Q8N712 ABBA01028731;AC005837;AMYH01008649;BC033998;BC045819;BC106939;BF575183;BI819093;BI829268;BU176249;BU182031;BX403283;CH471099;CN372746;DA094787;DA685885;JQ313903;NM_001080510;NM_001206983;NM_001206984;NM_001206985;NM_001206986;NM_001206987;NR_038193 AAH33998;AAH45819;AFH41797;EAW89435;EAW89437;EAW89438;NP_001073979;NP_001193912;NP_001193913;NP_001193914;NP_001193915;NP_001193916;Q86XA0 Hs.74655 1852762 RH11488 C17orf95 hypothetical protein LOC124512;methyltransferase like 23;methyltransferase-like protein 23 APPROVED protein-coding ENSG00000181038 26988 615262 VALIDATED 1314724 METTL21D methyltransferase like 21D 14 14 14 q21.3 30442491 30450433 - 49645100 49653047 - 50575350 50583297 - 6480464 15489334;14702039;12477932;22948820;23349634 79609 Q9H867 ABBA01018131;AK023982;AK129564;AL109758;AMYH01005718;AMYH01005719;BC027585;BC105118;BC143673;BC143674;BI753530;BI767189;BX247997;NM_001040662;NM_024558;NR_049738;NR_049739 AAI05119;AAI43674;AAI43675;BAB14752;BAC85183;CAD62329;NP_001035752;NP_078834;Q9H867 Hs.558541 1670986;1676630;1684359;2180665 D13S1686;RH65681;RH80099;SHGC-64140 C14orf138;FLJ13920;VCP-KMT OTTHUMP00000178974;VCP lysine methyltransferase;hypothetical protein LOC79609;methyltransferase-like protein 21D;protein-lysine methyltransferase METTL21D APPROVED protein-coding ENSG00000100483 20352 16605 615260 VALIDATED 1602087 METTL25 methyltransferase like 25 12 12 12 q21.31 82419836 82540592 + 81276455 81397076 + 82752276 82873018 + 6480464 15489334;14702039;12477932;11329013;16344560;20379614;21832049 84190 F8VZA8;H0YIN2;H0YIW7;Q8N6Q8 ABBA01053471;AC083811;AC089998;AK026442;AK310231;AMYH01004622;BC029120;BG186273;CH471054;DB059865;NM_032230 AAH29120;BAB15484;EAW97381;EAW97382;NP_115606;Q8N6Q8 Hs.506222 1685736;1723861;1858470 RH118666;RH46448;RH98258 C12orf26;FLJ22789 OTTHUMP00000243351;hypothetical protein LOC84190;methyltransferase-like protein 25;uncharacterized protein C12orf26 APPROVED protein-coding ENSG00000127720 26228 10979 VALIDATED 1346719 METTL4 methyltransferase like 4 18 18 18 p11.32 2412830 2446793 - 2527524 2561489 - 2537524 2571489 - 737633;6480464 12477932 15489334;14702039;8889548;16341674;21139048 64863 I3L0Y1;I3L3W2;I3L4A0;J3KNJ7;Q8N3J2 ABBA01049830;ABBA01049831;AK022584;AK026670;AK290001;AL834296;AMYH01008776;AP005136;BC056270;BC111020;BC136766;BC136767;BI489580;BI771801;BM828675;BU741018;BX647373;CH471113;NM_022840 AAH56270;AAI11021;AAI36767;AAI36768;BAB15520;BAF82690;CAD38969;EAX01698;NP_073751;Q8N3J2 Hs.126888 1699902;1717627;2114128;2125524 AB046105;RH103559;RH122118;RH48981 FLJ23017;HsT661;MGC117235 OTTHUMP00000162205;methyltransferase-like protein 4 protein-coding ENSG00000101574 24726 14390 VALIDATED 7247007 METTL7AP1 methyltransferase like 7A pseudogene 1 100996686 ABBA01140646;AC021066;AMYH01004471 pseudo 48874 MODEL 1601800 METTL2A methyltransferase like 2A 17 17 17 q23.2 54888315 54914521 + 57854998 57881186 + 60501246 60527454 + 6480464 16625196;16344560;15489334;15342556;14702039;12477932;11042152;11738826;21139048;21900206;21906983;19322201 339175 B3KM33;Q96IZ6 ABBA01035354;ABBA01035355;AC008026;AF161384;AF161385;AK000991;AK022822;AMYH01008543;AMYH01008544;BC006985;BF975211;BP255803;CH471109;DA027807;NM_181725 AAF28944;AAF28945;AAH06985;ADZ15687;BAB14260;BAG50845;EAW94353;NP_859076;Q96IZ6 Hs.381204 1684176;1684499;1700302;1778788;2219922;5016240;5021872;5022200;5022450;5022578;5022588;5024039 D10S275;D16S325;D1S1423;D5S1597E;GDB:4585159;L18426;METTL2__6308;RH103771;RH69392;RH69532;RH78397;sY3084 FLJ12760;METTL2 methyltransferase-like protein 2A protein-coding ENSG00000087995 25755 07795 VALIDATED 1348378 METTL3 methyltransferase like 3 This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008] 14 14 14 q11.1 1829623 1842799 - 21036122 21049297 - 21966282 21979457 - 1580863;6480464 9409616;16964243;15489334;14702039;12508121;12477932;12355263;11470232;22939629;21139048;22797925 56339 B4DTN4;B4E349;F5H6D8;H0YFV6;Q86U44 ABBA01061255;AE000658;AF014837;AF283991;AK000222;AK093509;AK097873;AK098655;AK300289;AK304251;AK304570;AMYH01005595;BC001650;BC003031;BC014427;BC052244;BX247964;CH471078;NG_001332;NM_019852 AAB71850;AAG13956;AAH01650;AAH03031;AAH52244;ABZ92354;BAG52732;BAG62046;BAG65118;BAG65361;CAD62303;EAW66379;NP_062826;Q86U44 Hs.168799 1645047;2126076;2128688;5015961 D15S1477;RH44762;SHGC-36315;SHGC-64027 IME4;M6A;MGC4336;MT-A70;Spo8 N6-adenosine-methyltransferase 70 kDa subunit;OTTHUMP00000239551;adoMet-binding subunit of the human mRNA (N6-adenosine)-methyltransferase;mRNA m(6)A methyltransferase;methyltransferase-like protein 3 APPROVED protein-coding ENSG00000165819 17563 14389 612472 REVIEWED 1350099 METTL2B methyltransferase like 2B This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 7 q32.1 122919873 122946301 + 127904019 127930214 + 128116783 128142978 + 6480464;6907045 16625196;15489334;15342556;14702039;12975309;12477932;11738826;11042152;21832049;21139048;21906983 55798 F8WAS9;H7C2C8;H7C4Z8;H7C552;Q6P1Q9 ABBA01057669;ABBA01057670;AC010655;AC090114;AK002212;AK125539;AK299960;AK302775;AMYH01017918;AMYH01017919;AY358237;BC064929;BC107586;BC121115;BC121116;BP247182;NM_018396 AAH64929;AAI07587;AAI21116;AAI21117;AAQ88604;BAA92136;BAG61786;BAG63980;NP_060866;Q6P1Q9 Hs.433213 1684176;1684499;2219922;5015861;5016240;5016478;5020414;5021872;5022578;5024039;5109281;7185938 D10S16;D16S325;D1S1423;D1S1425;GDB:434012;GDB:4585159;L17688;METTL2__6308;RH69392;RH69532;sY3084 FLJ11350;FLJ12760;METL;METTL2;METTL2A;PSENIP1 OTTHUMP00000184916;OTTHUMP00000212398;methyltransferase-like protein 2B APPROVED protein-coding ENSG00000165055 18272 09705 607846 REVIEWED 1606016 METTL5 methyltransferase like 5 2 2 2 q31.1 164284639 164297724 - 170376513 170389599 - 170668267 170681353 - 6480464 15815621;15489334;14702039;12477932;11042152;21139048;21890473;21906983 29081 B8ZZC8;B8ZZE3;B8ZZY8;E7EMN2;F5H4E8;H0YFV5;H7C0M7;Q9NRN9 ABBA01014899;ABBA01014900;AC009967;AF161482;AF201938;AK001321;AMYH01011252;AMYH01011253;BC000921;BC093014;CH471058;NM_014168 AAF29097;AAF86874;AAH00921;AAH93014;AAY14869;BAA91622;EAX11252;EAX11253;EAX11254;EAX11255;NP_054887;Q9NRN9 Hs.743397 1679746;2174216;5113234 D2S2569;RH12569;RH68407 FLJ10459;HSPC133 OTTHUMP00000205104;OTTHUMP00000205105;OTTHUMP00000205106;OTTHUMP00000205107;OTTHUMP00000205108;OTTHUMP00000205109;methyltransferase-like protein 5 protein-coding ENSG00000138382 25006 PROVISIONAL 1605295 METTL6 methyltransferase like 6 3 3 3 p25.1 15389607 15407274 - 15426381 15444046 - 15451377 15469042 - 6480464;6907045 15489334;14702039;12477932;22118674;21906983 131965 B4DDX3;H7C1L4;H7C3H9;M0R0W0;Q8TCB7 ABBA01025141;AC027125;AK057791;AK293370;AMYH01013002;BC022400;BG701912;CH471055;NM_152396 AAH22400;ABM82944;ABM86134;BAB71574;BAG56884;EAW64232;EAW64233;NP_689609;Q8TCB7 Hs.149487 1788696;2157108;5015861;5037552;7185938 D10S16;D8S2279;RH135807;SHGC-76744 MGC24132 OTTHUMP00000209876;OTTHUMP00000210874;OTTHUMP00000210877;methyltransferase-like protein 6 protein-coding 28343 14494 VALIDATED 1602890 METTL9 methyltransferase like 9 16 16 16 p12.2 21292599 21350540 + 21518357 21576293 + 21610856 21668792 + 6480464 16837177;16730941;16303743;12477932;11132146;10810093;16413759;20237496;21139048;21963094 51108 H3BM54;H3BN86;H3BPE9;H3BQD2;H3BRP5;H3BTS9;Q9H1A3 ABBA01008651;ABBA01008652;AC005632;AC092719;AF151839;AF497245;AJ278577;AJ278578;AJ278581;AK025565;AK074529;AK075022;AK075237;AK313077;AMYH01007355;BC000195;BM149762;BU621488;BX647201;CH878403;CQ782469;CQ783008;NM_001077180;NM_016025 AAD34076;AAH00195;AAM18072;BAC11042;BAC11356;BAC11490;BAG35903;CAC20437;CAC20438;CAC20439;CAF85755;CAF86217;EAW50517;EAW50518;EAW50519;EAW50520;EAW50521;EAW50522;NP_001070648;NP_057109;Q9H1A3 Hs.279583 1649254;1649939;1685848;1685986;1687185;1777911;2133593;2133595;2187550;5014051;5017691;5022200 A001Z18;D6S1405;D8S2278;G19815;L18426;METTL9;RH41956;RH65112;RH77714;RH80447;SHGC-60716;SHGC-61128 CGI-81;DREV;DREV1;FLJ21912;PAP1 DORA reverse strand protein 1;OTTHUMP00000162337;methyltransferase-like protein 9;p53 activated protein 1 protein-coding ENSG00000197006 24586 16839 609388 VALIDATED 1605633 METTL8 methyltransferase like 8 2 2 2 q31.1 165790476 165907900 - 171888007 171998865 - 172173912 172291312 - 6480464 14702039;12477932;17207965;21832049;15992539;22745009 79828 A8K7U3;B3KW44;B5ME25;C9J3F1;C9J6U8;C9JE69;E7ETE0;H7C2P8;Q9H825 ABBA01020722;ABBA01020723;ABBA01020724;ABBA01020725;AC007739;AC007969;AC008065;AI129960;AK023396;AK024046;AK055616;AK093218;AK124092;AK292108;AK297141;AMYH01011261;AMYH01011262;BC025250;CH471058;DC349499;NM_024770 AAH25250;AAX93077;AAX93284;ADQ32256;BAB14797;BAF84797;BAG54006;BAG59642;EAX11214;EAX11215;EAX11216;EAX11217;NP_079046;Q9H825 Hs.135146 1644461;5015619;5015861;5015961;5016596;5020635;5022578;5022639;5037552;5109281;5117897;5118444;5491557;7185938 D10S16;D11S2808;D11S3114;D11S3316;D15S1477;D1S1423;D1S1425;D7S3207;D8S2279;GDB:631802;GDB:631813;MARC_17695-17696:1031748757:1;STS-AA041295 FLJ13334;FLJ13984;FLJ31054;FLJ42098;FLJ77788;TIP OTTHUMP00000163093;OTTHUMP00000163094;OTTHUMP00000163095;OTTHUMP00000200296;methyltransferase-like protein 8;tension-induced/inhibited protein protein-coding 25856 07845 609525 VALIDATED 1346735 MF4 metacarpal 4-5 fusion 7240710 4235 7031 1603260 METTL7B methyltransferase like 7B 12 12 12 q13.2 55727803 55730867 + 54361686 54364662 + 56075330 56078395 + 6480464 15489334;12975309;12477932;17004324;21139048 196410 Q6UX53 ABBA01008384;AC009779;AK290112;AMYH01004494;AY358508;BC020509;CH471054;NM_152637 AAQ88872;BAF82801;EAW96818;NP_689850;Q6UX53 Hs.51483 1644637;1710586;1855839;2153247 RH11299;SHGC-82400;STS-X74295;WI-16635 ALDI;MGC17301 OTTHUMP00000202178;associated with lipid droplets 1;methyltransferase-like protein 7B protein-coding ENSG00000170439 28276 14458 VALIDATED 5129399 MFAP1P1 microfibrillar-associated protein 1 pseudogene 1 13 13 13 q12.3 12185113 12186367 - 30013456 30016398 - 31115780 31117034 - 646755 ABBA01035694;AL353648;AMYH01005010;NG_011532 2113396 D13S1762 pseudo 39694 INFERRED 1625811 MEX3A mex-3 homolog A (C. elegans) 1 1 1 q22 129114865 129124850 - 154308428 154318413 - 156041804 156051789 - 6480464 17267406;14702039;12477932;18779327 92312 A1L020 ABBA01016672;AK024097;AK095491;AK125482;AL355388;AMYH01001434;AMYH01001435;AY950677;BC033283;CX873216;NM_001093725 A1L020;AAY34145;NP_001087194 Hs.591496 2135031;2182619 RH47365;RH48986 MEX-3A;RKHD4 OTTHUMP00000233099;RING finger and KH domain-containing protein 4;RNA-binding protein MEX3A;ring finger and KH domain containing 4;ring finger and KH domain containing protein protein-coding ENSG00000254726 33482 611007 VALIDATED 1601879 METTL7A methyltransferase like 7A 12 12 12 q13.12 50120003 50127771 + 49604801 49612567 + 51318534 51326300 + 6480464 15489334;14702039;12975309;12477932;8125298;17207965;17342744;18781797;21139048;21890473;21906983;19322201 25840 F8VQX6;H0YI09;Q9H8H3 ABBA01031589;AC008121;AF113007;AJ536233;AK023693;AK024409;AK130665;AK225595;AK225689;AK293356;AK307071;AL050159;AMYH01004458;AY358797;BC004492;BC008180;BM805242;CH471111;CS072370;NM_014033 AAF20268;AAH04492;AAH08180;AAQ89157;ACE87066;ACE87748;ADQ31657;BAB14643;BAB14913;BAG56872;CAB43300;CAD60207;CAI93508;EAW58154;EAW58155;EAW58156;NP_054752;Q9H8H3 Hs.744021;Hs.744209 1658804;1768882;1772208;1772210;2147003;2185670;5014063;5024756 A006H14;Cdy0bc04;D12S1922;D15S1390;G20804;RH68506;RH80030;WI-12477 AAM-B;DKFZp586A0522 methyltransferase-like protein 7A;protein AAM-B protein-coding ENSG00000185432 24550 13179 VALIDATED 1346115 MEX3B mex-3 homolog B (C. elegans) This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012] 15 15 15 q25.2 59273384 59277617 - 80121183 80125416 - 82334119 82338484 - 737633;1580863;6480464 12477932 19079261;18779327;17267406;16381901;15761153;15489336;15489334;14702039;11256614;11230166;11076863;16169070;20531441;18029348;21900206;21139048;21906983;22645275 84206 Q6ZN04 AA442153;AB095929;ABBA01060646;AC026956;AK094145;AK094633;AK131424;AL136778;AMYH01006854;AY950678;BC036211;BC111545;CH471136;HY013949;NM_032246 AAH36211;AAI11546;AAY34146;BAC23105;BAD18571;CAB66712;CAL37893;CAL38674;EAW99090;NP_115622;Q6ZN04 Hs.104744;Hs.744275 1678917;1698772;2122740 G31454;RH102949;RH92966 DKFZp434J0617;MEX-3B;MGC117199;RKHD3;RNF195 OTTHUMP00000190867;RING finger and KH domain-containing protein 3;RING finger protein 195;RNA-binding protein MEX3B;ring finger and KH domain containing 3 protein-coding ENSG00000183496 25297 15256 611008 REVIEWED 1319133 MEX3C mex-3 homolog C (C. elegans) This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009] 18 18 18 q21.2 45557653 45580784 - 46954918 46977688 - 48700920 48724051 - 737633;1580863;6480464 12477932 17267406;17015768;16177791;15489334;14702039;22658931;22863774;19322201;22610502;20379614;18029348;21906983;18779327 51320 K7ER23;Q5U5Q3 ABBA01018687;ABBA01018688;ABBA01018689;AC090330;AF208855;AK096190;AL833519;AMYH01009000;AW079942;AY950679;BC032952;BC041122;BC063244;BC153820;CH471096;NG_015801;NM_016626 AAF64269;AAH41122;AAI46417;AAI48856;AAI53821;AAY34147;BAG53227;EAW62989;NP_057710;Q5U5Q3 Hs.465144 2109761;2152709 NIB1810;RKHD2_9704 BM-013;FLJ38871;MEX-3C;RKHD2;RNF194 OTTHUMP00000163545;RING finger and KH domain-containing protein 2;RING finger protein 194;RNA-binding E3 ubiquitin-protein ligase MEX3C;RNA-binding protein MEX3C;ring finger and KH domain containing 2 APPROVED protein-coding ENSG00000176624 28040 15255 611005 REVIEWED 1322643 MFAP3L microfibrillar-associated protein 3-like 4 4 4 q32.3 168240037 168279718 - 171144323 171184004 - 170907748 170947429 - 737633;1580863;6480464 12477932 15489334;9734811;21890473;21906983 9848 D6R9L7;D6RAB5;D6RCC0;D6RCF0;D6RDM6;D6RGZ8;O75121 AB014526;ABBA01070343;AC084866;AF327560;AK290041;AK308263;AMYH01014705;AW015769;AY391838;BC001279;BC066912;BM552945;CH471056;NM_001009554;NM_021647 AAH01279;AAH66912;AAK15700;AAS55434;AAY41028;AAY41029;BAA31601;BAF82730;EAX04773;EAX04774;EAX04775;NP_001009554;NP_067679;O75121 Hs.593942 1650383;1682413;1683691;1686122;1772898;1850303;2139714;5093118 A009G24;G32530;RH92002;RH92235;SHGC-17377;SHGC-24761;SHGC-30654;SHGC-67275 NYD-sp9 OTTHUMP00000219353;OTTHUMP00000219354;OTTHUMP00000219390;OTTHUMP00000219393;OTTHUMP00000219394;microfibrillar-associated protein 3-like;testis development protein NYD-SP9 protein-coding ENSG00000198948 29083 14391 VALIDATED 1321562 MEX3D mex-3 homolog D (C. elegans) 19 19 19 p13.3 1489519 1502909 - 1505668 1519057 - 1554668 1568057 - 6480464 17267406;15489334;14769789;12477932;21139048;19322201;18779327 399664 Q86XN8 AB062435;AB107353;ABBA01002661;ABBA01002662;AC005943;AC027307;AF458084;AMYH01009254;AY950680;BC113384;BC113741;CB218195;CB218196;CH471139;DQ225272;DQ225273;NM_001174118;NM_203304 AAI13385;AAI13742;AAQ04763;AAY34148;ABB04031;ABB04032;BAB93498;BAC67658;EAW69483;NP_001167589;NP_976049;Q86XN8 Hs.436495 KIAA2031;MEX-3D;MEX3;OK/SW-cl.4;RKHD1;RNF193;TINO OTTHUMP00000197230;OTTHUMP00000197231;RING finger and KH domain-containing protein 1;RING finger protein 193;RNA-binding protein MEX3D;bcl-2 ARE RNA binding protein;ring finger (C3HC4 type) and KH domain containing 1;ring finger and KH domain containing 1 protein-coding ENSG00000181588 16734 15254 611009 VALIDATED 1321226 MFAP1 microfibrillar-associated protein 1 15 15 15 q15-q21 20986194 21006411 - 41884025 41904243 - 44096733 44116951 - 1580863;6480464 1374398;17081983;16565220;15345747;15324660;15302935;12477932;7835894;11799066;21319273;19913121;20628086;22990118;22939629;21139048;21555454;21693764;21890473;21906983;21987572;22174317;22505724 4236 P55081 ABBA01039222;ABBA01039223;AC018512;AK312867;AMYH01006607;BC023557;BC050742;BF981568;CH471082;NM_005926;U04209 AAA92786;AAH23557;AAH50742;ABM84315;ABM87708;BAG35719;EAW77247;NP_005917;P55081 Hs.61418 1771468;1802754;1805254;1808066;1809872;1815654;1818770;1820506;1827008;1831306;1831530;1836950;1838280;1843426;1846360;1933804;1933806;1933808;1933810;1933812;1933814;1933816;1933818;1933820;1933822;1933824;1933826;1933828;1933830;1933832;1933834;1933836;1933838;1933840;1933842;1933844;1933846;1933848;1933850;1933852;1933854;1933856;1933858;1933860;1933862;1933864;1933866;1933868;1933870;1933872;1933874;1933876;1933878;1933880;1933882;1933884;1933886;1933888;1933890;1933892;1933894;1933896;1933898;1933900;1933902;1933904;1933906;1933908;1933910;1933912;1933914;1933916;1933918;1933920;1933922;1933924;1933926;1933928;1933930;1933932;1933934;1933936;1933938;1933940;1933942;1933944;1933946;1933948;1933950;1933952;1933954;1933956;1933958;1933960;1933962;1933964;1933966;1933968;1933970;1933972;1933974;2150774;2179881;2209106;2209108;2209110;2209112;2209114;2209116;2209118;2209120;2209122;2209124 D15S1342;ECD02264;ECD03572;ECD05011;ECD05928;ECD08865;ECD10449;ECD11328;ECD14619;ECD16789;ECD16902;ECD19639;ECD20314;ECD22922;ECD24400;REN37735;REN37736;REN37737;REN37738;REN37739;REN37740;REN37741;REN37742;REN37743;REN37744;REN37745;REN37746;REN37747;REN37748;REN37749;REN37750;REN37751;REN37752;REN37753;REN37754;REN37755;REN37756;REN37757;REN37758;REN37759;REN37760;REN37761;REN37762;REN37763;REN37764;REN37765;REN37766;REN37767;REN37768;REN37769;REN37770;REN37771;REN37772;REN37773;REN37774;REN37775;REN37776;REN37777;REN37778;REN37779;REN37780;REN37781;REN37782;REN37783;REN37784;REN37785;REN37786;REN37787;REN37788;REN37789;REN37790;REN37791;REN37792;REN37793;REN37794;REN37795;REN37796;REN37797;REN37798;REN37799;REN37800;REN37801;REN37802;REN37803;REN37804;REN37805;REN37806;REN37807;REN37808;REN37809;REN37810;REN37811;REN37812;REN37813;REN37814;REN37815;REN37816;REN37817;REN37818;REN37819;REN37820;STS-R01211;STS-U04209;stSG627961;stSG627963;stSG627964;stSG627965;stSG627967;stSG627968;stSG627969;stSG627970;stSG627971;stSG627972 OTTHUMP00000066512;microfibrillar-associated protein 1 protein-coding ENSG00000140259 7032 02569 600215 VALIDATED 1314413 MFAP2 microfibrillar-associated protein 2 Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 p36.1-p35 17173584 17180668 - 17300997 17308081 - 6480464;6484113 9278443;19182256;17692555;16710414;16492672;15489334;15233806;15044481;12878157;12477932;11796718;11723132;11481325;11284693;10664011;8761465;8125298;7759096;3015971;21540769;21946350;20881960;23284291;22885067;22534017 4237 P55001 ABBA01000261;ABBA01000262;AJ009948;AK222751;AK301655;AL049569;AMYH01000294;AU280150;BC015039;BC028033;CH471134;CR407678;DN996554;NG_029688;NM_001135247;NM_001135248;NM_002403;NM_017459;U19718;U19719;XM_003960903;XM_003960904;XM_003960905 AAA79920;AAH15039;ABM86468;ABW03655;BAD96471;BAH13532;CAG28606;EAW94818;EAW94819;EAW94820;EAW94821;EAW94822;EAW94823;NP_001128719;NP_001128720;NP_002394;NP_059453;P55001;XP_003960952;XP_003960953;XP_003960954 Hs.389137 1673284;1769557;2159382;2217602 MFAP2_4016;RH64188;RH79126;SHGC-74283 FLJ50901;MAGP;MAGP-1;MAGP1 MFAP-2;OTTHUMP00000002397;OTTHUMP00000002398;microfibril-associated glycoprotein 1;microfibrillar-associated protein 2 APPROVED protein-coding ENSG00000117122 7033 01137 156790 REVIEWED 1350797 MFAP3 microfibrillar-associated protein 3 5 5 5 q32-q33.2 149494051 149512547 + 153398752 153414786 + 153418519 153437014 + 1580863;6480464 15489334;14702039;12477932;7782085;19913121;20628086;21701570;21139048;21906983 4238 E5RH26;E5RHQ6;E5RJ59;P55082 ABBA01026241;AC010232;AC022088;AK000358;AK296468;AK315573;AL037715;AL049404;AMYH01015728;BC026244;CB994356;CH471062;L35251;NM_001135037;NM_001242336;NM_005927 AAC41753;AAH26244;ABM82905;ABM86096;BAA91108;BAG37947;BAG59113;EAW61645;NP_001128509;NP_001229265;NP_005918;P55082 Hs.432818 1674824;1683333;1745287;1767177;2107349;2118385;2176018;5094936 GDB:599277;MFAP3;MFAP3_7827;RH35762;RH47390;RH93513;SHGC-52995;STS-L35251 DKFZp586F0219 OTTHUMP00000160644;OTTHUMP00000224299;OTTHUMP00000224300;OTTHUMP00000224301;microfibril-associated glycoprotein 3 protein-coding ENSG00000037749 7034 02731 600491 VALIDATED 1317270 MFAP4 microfibrillar-associated protein 4 This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 17 p11.2 16699566 16703304 - 19227348 19231086 - 19286755 19290532 - 1580863;6480464 7633408;17539903;16867155;16335952;15489334;15340161;12477932;10542261;22315970;15342556;17207965;20628624;22318606;19380743 4239 K7ES70;P55083 ABBA01054609;AC124066;AK293056;AK304528;AMYH01008233;BC035560;BC047725;BC062415;BI765707;BP371800;BQ017631;CH471212;CS208039;HB867224;L38486;NG_027952;NM_001198695;NM_002404 AAB00968;AAH62415;ADQ31952;BAF85745;BAG65329;CAJ44945;CBF57598;EAW50888;EAW50889;EAW50890;NP_001185624;NP_002395;P55083 Hs.296049 1657872;1681358;1681913;1850159;2107351;2218562;7185892 D17S1287;MAPK7_4125;MFAP4_7828;RH64914;RH79913;RH80796;STS-U29725 OTTHUMP00000065899;OTTHUMP00000065920;microfibril-associated glycoprotein 4 APPROVED protein-coding ENSG00000166482 7035 02789 600596 REVIEWED 1321011 MFF mitochondrial fission factor This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 2 2 2 q36.3 221961362 221991712 + 227900472 227930793 + 228192228 228222549 + 6480464 18353969;12477932;18029348;21509594;21963094;22595523;23284813;23444366;23530241;22939629;16344560;21149567;21701560;21725060;21885730;22334657;22499341;21139048;21906983;22878233 56947 C9J846;C9JAF1;C9JHF5;C9JI76;C9JU19;E9PK16;E9PKS0;E9PPR7;E9PPW6;E9PQX8;H7C433;Q9GZY8 AA629429;ABBA01050185;AC097662;AF226049;AF246239;AF258660;AK026137;AL517791;AL559606;AL833032;AMYH01011540;AMYH01011541;BC000797;BC093024;BI550249;BQ653061;CH471063;DA737008;DB043777;NG_033153;NM_001277061;NM_001277062;NM_001277063;NM_001277064;NM_001277065;NM_001277066;NM_001277067;NM_001277068;NM_020194;NR_102266;W58482 AAF86949;AAG44486;AAG44658;AAH00797;AAH93024;AAY24252;BAB15373;CAH56328;EAW70859;EAW70860;EAW70861;EAW70862;EAW70863;EAW70864;EAW70865;EAW70866;EAW70867;EAW70868;EAW70869;NP_001263990;NP_001263991;NP_001263992;NP_001263993;NP_001263994;NP_001263995;NP_001263996;NP_001263997;NP_064579;Q9GZY8 Hs.471528 1653215;1754153;1760387;1769965;2142731;2144535;2145756;7187396 A003P11;D2S2842;SHGC-132181;SHGC-142182;SHGC-32970;WI-12020;WIAF-1526 C2orf33;DKFZp666J168;GL004;MGC110913 OTTHUMP00000164235;OTTHUMP00000203987;OTTHUMP00000203989;mitochondrial fission factor;mitochondrial fission factor homolog B protein-coding ENSG00000168958 24858 16653 614785 REVIEWED 1317391 MFAP5 microfibrillar associated protein 5 This gene encodes a 25-kD microfibril-associated glycoprotein which is rich in serine and threonine residues. It lacks a hydrophobic carboxyl terminus and proline-, glutamine-, and tyrosine-rich regions, which are characteristics of a related 31-kDa microfibril-associated glycoprotein (MFAP2). The close similarity between these two proteins is confined to a central region of 60 aa where precise alignment of 7 cysteine residues occurs. The structural differences suggest that this encoded protein has some functions that are distinct from those of MFAP2. [provided by RefSeq, Jul 2008] 12 12 12 p13.1-p12.3 10336125 10353038 - 8689807 8706700 - 8798540 8815433 - 1580863;6480464;6484113 8557636;18417156;16492672;15489334;12878157;12477932;12122015;9792630;8889548;19962670;20345228;22885067 8076 B3KW70;F5GYX4;F5H1C0;F5H2W4;F5H413;F5H7Z2;H0YG03;H0YGS3;Q13361;Q7Z490 ABBA01012245;AC092184;AC092490;AF084918;AF084919;AF084920;AF084921;AF084922;AF084923;AF084924;AF084925;AF084926;AF084927;AK124368;AK290585;AK299475;AK315807;AL833019;AMYH01004240;AU280458;AY339060;BC005901;BM678444;CH471116;NM_003480;U37283 AAA96752;AAC83942;AAH05901;AAQ18021;ACE87011;BAF83274;BAF98698;BAG54032;BAG61439;EAW88613;EAW88614;NP_003471;Q13361 Hs.512842 1654282;1673710;1689468;1767660;2165818;5022578;5037552 D1S1423;D8S2279;RH99231;SHGC-36539;SHGC-58129;STS-W94200;WI-17490 MAGP2;MP25 MAGP-2;MFAP-5;OTTHUMP00000239218;OTTHUMP00000239219;OTTHUMP00000239220;OTTHUMP00000239266;OTTHUMP00000239268;OTTHUMP00000239269;OTTHUMP00000239270;OTTHUMP00000239271;OTTHUMP00000239272;microfibril-associated glycoprotein 2;microfibril-associated glycoprotein-2;microfibrillar-associated protein 5 APPROVED protein-coding ENSG00000197614 29673 03063 601103 REVIEWED 5144539 MFI2-AS1 MFI2 antisense RNA 1 3 3 195316645 195318489 + 196729777 196731615 + 12477932 100507057 ABBA01033762;AC068302;AMYH01013799;BC032042;NR_038285 Hs.666451 1697646;2129765 RH102338;STS-M12154 APPROVED miscrna ENSG00000228109 40373 VALIDATED 1318798 MFHAS1 malignant fibrous histiocytoma amplified sequence 1 Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 7770247 7879341 - 8679409 8788541 - 8641999 8751131 - 1599928;1580863;6480464 9973190 18846501;16094384;14702039;14691450;12477932;20379614;20734064;20616063;22210626;22988871;23327923 9258 Q9Y4C4 AB016816;ABBA01026915;ABBA01026916;AC090567;AK027007;AK096504;AMYH01018464;BC014226;CH471157;NG_009444;NM_004225 AAH14226;AAI67810;BAA74737;EAW65566;NP_004216;Q9Y4C4 Hs.379414 1645876;1649064;1662805;1663805;1670100;1687914;2114158;2190649;2190651 D8S11490;D8S11550;D8S1672;RH35881;RH48369;RH80386;SGC33697;STS-AA007564;WI-18400 FLJ23354;LRRC65;MASL1 MFH-amplified sequences with leucine-rich tandem repeats 1;OTTHUMP00000224521;leucine rich repeat containing 65;malignant fibrous histiocytoma-amplified sequence 1;malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1 APPROVED protein-coding ENSG00000147324 16982 12010 605352 REVIEWED 736002 MFGE8 milk fat globule-EGF factor 8 protein 15 15 q25 87242920 87257614 - 89441914 89456663 - 1582497;1580863;6480464 11748647 8639264;18029348;19502262;19443842;19204935;19196164;18974133;18647368;18303131;18160406;17906662;17679143;17637751;17420351;16344560;16115445;15478463;14702039;14561811;12670504;12477932;12000961;11856354;11787681;10411933;9773837;9643686;9546740;9535276;9260929;9101712;9027496;8889548;8125298;1909932;18990388;19834535;21127199;20213738;20956946;22770563;21177637;21868707;22070546;22118674;21139048;21890473;22018779;21841820;22204000;22558449;22438901;22921913;23262193;23194669 4240 F5GZN3;F5H7N9;H0YKB5;H0YKS8;Q08431 ABBA01053003;AC067805;AK095908;AK222735;AK223182;AK304627;AK310357;AK312640;AMYH01006911;AU134066;AY141974;BC003610;BT006948;BU726667;BX537974;CH471101;NM_001114614;NM_005928;S56151;U58516 AAB19771;AAC50549;AAH03610;AAN08508;AAP35594;ACE87081;ACE87761;BAD96455;BAD96902;BAG35524;BAG53164;BAG65408;CAD97938;EAX02025;EAX02026;EAX02027;EAX02028;EAX02029;EAX02030;NP_001108086;NP_005919;Q08431 Hs.3745 1674204;1733662;1777810;1794368;2109503;2110941;2155829 D15S168E;D15S630E;G15928;MFGE8__6309;PMC311040P3;RH78066;SHGC-52839 BA46;EDIL1;HMFG;HsT19888;MFG-E8;MFGM;OAcGD3S;SED1;SPAG10;hP47 HMFG;MFGM;O-acetyl disialoganglioside synthase;OTTHUMP00000192921;breast epithelial antigen BA46;lactadherin;medin;sperm associated antigen 10;sperm surface protein hP47 protein-coding ENSG00000140545 7036 03789 602281 VALIDATED 1317764 MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008] 3 3 q28-q29 198214553 198241083 - 196728611 196756687 - 1580863;6480464 3010712;12860420;12809550;12750156;12710945;12477932;12230555;11852110;11337467;10737800;10691965;9176405;8705293;8300636;7556058;6843660;3754536;2419904;18691669;17570828;17452986;17449903;17227112;17196552;16713448;16704991;16449195;16449192;16449191;15716025;15489334;14702039;2540389;2463331;1633859;1544447;19815549;21190562 4241 C9JVN1;P08582;Q53XS6 A00127;AA442552;ABBA01033761;ABBA01033762;AC068302;AK096182;AMYH01013799;AU099352;AW083943;BC001875;BC002623;BC007550;BC032752;BC034933;BC053510;BC068085;BC071910;BC082761;BC093920;BC111947;BC143257;BQ332373;BT007377;CH471191;K03200;M12154;NM_005929;NM_033316 AAA59992;AAH01875;AAH02623;AAH07550;AAH71910;AAH93920;AAI11948;AAI52833;AAP36041;CAA00012;EAW53616;EAW53617;NP_005920;NP_201573;P08582 Hs.184727 1697646;2108251;2129765;5024543;5119737;5493707 D1S3690;GDB:181216;MFI2_8468;RH102338;STS-M12154;UniSTS:490436 CD228;FLJ38863;MAP97;MGC4856;MTF1 OTTHUMP00000208148;OTTHUMP00000208149;melanoma-associated antigen p97, isoform 2;melanotransferrin;membrane-bound transferrin-like protein APPROVED protein-coding ENSG00000163975 7037 01122 155750 REVIEWED 1349900 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene is a member of the fringe gene family which also includes radical and lunatic fringe genes. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. [provided by RefSeq, Oct 2009] 22 22 22 q12 21665904 21683281 - 36195049 36212331 - 37865101 37882478 - 1302739;1580863;2302204;6480464;6907045 9187150;17761886 9207795;15489334;15461802;15280477;12486116;12477932;12036964;11978185;11346656;10935626;10640833;10591208;10341080;9878264;16344560;20237496 4242 A9UJP9;A9UJQ0;A9UJQ1;F8WE05;F8WE21;H0Y6Q9;O00587 ABBA01055469;AI363008;AK292123;AK297149;AK297833;AK316555;AMYH01012753;BC094814;BM457814;CH471095;CR456518;DA815501;NM_001166343;NM_002405;NR_029413;U94352;Z93096 AAC51358;AAH94814;BAF84812;BAG59648;BAG60167;BAG65633;CAB07511;CAG30404;CAK54549;CAK54848;CAP58790;CAP58791;CAP58792;CAP58793;EAW60161;EAW60162;NP_001159815;NP_002396;O00587 Hs.517603 2108253;2154772 MFNG_8469;RH78577 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase;OTTHUMP00000197828;beta-1,3-N-acetylglucosaminyltransferase manic fringe;manic fringe homolog (drosophila) APPROVED protein-coding ENSG00000100060 7038 03988 602577 REVIEWED 1316695 MFRP membrane frizzled-related protein This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013] 11 11 q23 118716836 118722580 - 119209652 119217383 - 6480464;7240710 14702039;11263980;19169412;18781223;18648522;18554571;18363166;18334955;17167404;16442268;16352475;16123441;16123440;15976030;12944416;12477932;19753314;20361016;19850743;21416382;22605927;22933837;22565643;23112574;23127749;23143909 83552 B4DHN8;Q9BXJ0;Q9BY79 AB055505;ABBA01039674;AJ862823;AK055132;AK295203;AL110261;AMYH01004082;AP003396;BC029485;BC036675;CH471065;EF444994;NG_012235;NM_031433 AAI60191;ACA06013;ACA06015;BAB39771;BAB70859;BAG58200;CAH93521;EAW67483;NP_113621;Q9BY79 Hs.632102 1847650;2219924 D11S869E;MFRP__6310 DKFZp586B0621;FLJ30570;MCOP5;MGC32938;NNO2;RD6 OTTHUMP00000232153;OTTHUMP00000232154;OTTHUMP00000232155;membrane frizzled-related protein;membrane-type frizzled-related protein APPROVED protein-coding ENSG00000235718;ENSG00000259159 18121 06941 606227;609549;611040 REVIEWED 1604055 MFSD10 major facilitator superfamily domain containing 10 This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 4 4 4 p16.3 2843479 2847778 - 2902093 2905567 - 2932288 2936586 - 6480464 8353488;18638446;17362938;15146197;12477932;21139048;21906983 10227 D6R9N3;D6RA47;D6RE79;D6RHV1;D6RIZ4;Q14728 ABBA01029483;AL390065;AMYH01013885;AMYH01013886;BC001502;BC014979;BC023537;BI769550;BX359190;CH471131;CN422014;L11669;NM_001120;NM_001146069 AAA36729;AAH01502;AAH14979;ABW03540;ABW03844;EAW82496;EAW82497;NP_001111;NP_001139541;Q14728 Hs.632581 1854325;2118060 SGC34157;STS-R53618 TETRAN;TETTRAN OTTHUMP00000151166;OTTHUMP00000216849;OTTHUMP00000216851;OTTHUMP00000216930;OTTHUMP00000216932;major facilitator superfamily domain-containing protein 10;tetracycline transporter-like protein APPROVED protein-coding ENSG00000109736 16894 10265 610977 REVIEWED 1317080 MFSD12 major facilitator superfamily domain containing 12 19 19 19 p13.3 3475073 3494380 - 3489263 3508571 - 3538263 3557571 - 737633;6480464 12477932 15489334;22441875 126321 K7EJS5;K7EKU1;K7ENE1;K7EQ22;K7ERJ8;Q6NUT3 ABBA01002828;ABBA01002829;AC005786;AC005787;AF218008;AL556500;AMYH01009313;BC036706;BC068439;BG763518;CH471139;EU375738;NM_001042680;NM_021731;NM_174983 AAG17250;AAH36706;AAH68439;ABM83210;ABM86410;ABY76320;EAW69309;EAW69310;EAW69311;NP_001036145;NP_068377;NP_778148;Q6NUT3 Hs.656901 1684792;1851490;2155078 RH47754;RH48811;RH98774 C19orf28;MGC20700;PP3501 hypothetical protein LOC126321;major facilitator superfamily domain-containing protein 12;uncharacterized MFS-type transporter C19orf28 APPROVED protein-coding ENSG00000161091 28299 12704 VALIDATED 732569 MFN2 mitofusin 2 This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 p36.22 11962956 11996152 + 12040238 12073572 + 1580863;1601409;1601408;6480464;7240710 16437557;15064763 11181170;15322553;19052620;18974884;18957892;18946002;18490623;18480994;18458227;18425620;18336293;18316077;18092941;17940179;17874344;17828388;17718388;17537722;17437620;17309650;17215403;16762064;16710414;16160866;16123358;16087932;16083859;16043786;15961417;15878861;15829499;15549395;15489334;15382611;14702039;12759376;12598526;21892769;12499352;12477932;11950885;9039502;22653593;19889647;20530328;21220420;20936726;16936636;17697539;19168699;19427854;19618221;19690333;19754948;19812251;20008656;20032281;20163430;20193559;20335458;20339081;20350294;20418531;20661427;23498974;20819609;20514460;20580691;20587496;20877624;20940517;20804729;20654126;21173115;20871098;21615408;21913423;22526351;22957060;21408142;21508331;21715711;23727017;22546700;22778543;23060438;21258814;21987543;21139048;21890473;21906983;21963094;22438978;21839087;21987572;22189565;22253285;22510407;22442078;20301462;20301684;20803103;21190094;22748923;22762946;23000965;22926664;22139419;17121834 9927 O95140;Q5JXC5 ABBA01003066;ABBA01003067;ABBA01003068;AF036536;AI857365;AK001189;AK021947;AK022453;AK289828;AK295890;AL096840;AL122114;AL137666;AMYH01000260;AY028429;BC017061;BU178912;CH471130;D86987;DC401346;NG_007945;NM_001127660;NM_014874 AAD02058;AAH17061;AAK18728;ABM85107;ABW03721;BAA34389;BAF82517;BAG50864;BAG51062;BAG51075;BAH12214;CAB70866;EAW71726;EAW71727;NP_001121132;NP_055689;O95140 Hs.376681 1336018;1734388;1849347;1849349;2120586;2151129 A002C35;D1S1753E;D1S489;G19936;RH12722;SHGC-127 CMT2A;CMT2A2;CPRP1;HSG;KIAA0214;MARF OTTHUMP00000002509;hyperplasia suppressor;mitochondrial assembly regulatory factor;mitofusin-2;transmembrane GTPase MFN2 1643585 SGHRL1_H APPROVED protein-coding ENSG00000116688 16877 08495 601152;608507;609260 REVIEWED 731663 MFN1 mitofusin 1 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] 3 3 q26.33 180548174 180593708 + 179065480 179111014 + 6480464 22649485;18832378;17718388;15961417;15509649;15489334;14702039;12759376;12477932;12475957;11950885;11751411;11181170;9230308;20981029;9110174;8619474;8358434;20974255;21139048;21890473;21906983;21963094;19168699;19754948;20103533;20339081;20661427;20877624;21173115;20871098;23253261;23319602;21408142;21615408;22939629;23060438;21839087;22484496;22505724 55669 C9JQT7;C9JXQ1;H7C5H5;Q8IWA4 AB043588;AB043589;ABBA01058537;ABBA01058538;AC007620;AC007823;AF054986;AF329637;AI656503;AK000700;AK314306;AMYH01013687;BC020661;BC040557;CH471052;CR627379;NM_033540;U95822 AAB64220;AAC09347;AAH20661;AAH40557;AAK06840;ACE86976;ACE87665;ADZ16006;BAA91327;BAE16564;BAE16565;BAG36958;CAH10476;EAW78406;EAW78407;EAW78408;EAW78409;EAW78410;EAW78411;EAW78412;NP_284941;Q8IWA4 Hs.478383 1684530;2158902 D3S3388;RH92241 DKFZp762F247;FLJ20693;MGC41806;hfzo1;hfzo2 OTTHUMP00000212064;OTTHUMP00000212066;OTTHUMP00000212067;fzo homolog;mitochondrial transmembrane GTPase FZO-2;mitochondrial transmembrane GTPase Fzo-1;mitofusin-1;putative transmembrane GTPase;transmembrane GTPase MFN1 APPROVED protein-coding ENSG00000171109 18262 16344 608506 REVIEWED 1346472 MFSD1 major facilitator superfamily domain containing 1 3 3 3 q25.32 156942471 156970268 + 160002606 160030198 + 158519715 158547508 + 737633;1580863;6480464 12477932 15489334;14702039;8889548;21987572;21139048;21890473 64747 C9J5G6;C9JAC3;C9JBA3;C9JCH3;C9JZW5;H0Y874;H0Y8B7;H7C4F4;H7C593;H7C5U3;Q5XKJ1 AB014732;ABBA01058812;AC080013;AC128694;AF351617;AK023478;AK024215;AK294628;AK297034;AK297593;AK300497;AK301680;AMYH01013609;BC017661;BC030542;BC042197;BU608918;CH471052;NM_001167903;NM_022736 AAH30542;AAH42197;AAN76517;BAB14852;BAB20269;BAG57809;BAG59562;BAG59980;BAG62211;BAG63153;EAW78672;EAW78673;EAW78674;NP_001161375;NP_073573;Q9H3U5 Hs.58663 1662019;1754527;2171175;5114834 RH17522;SGC33811;SHGC-132809;SHGC-52391 FLJ14153;SMAP4;UG0581B09 OTTHUMP00000213564;SMAP-4;major facilitator superfamily domain-containing protein 1;smooth muscle cell-associated protein 4 protein-coding ENSG00000118855 25874 07851 VALIDATED 1603960 MFSD11 major facilitator superfamily domain containing 11 17 17 17 q25 71326156 71367727 + 72245378 72286951 + 74732647 74775336 + 6480464 12477932;9358160 79157 K7ELU3;K7EM95;K7EMP0;K7EQL2;K7ERE5;K7ES57;K7ES99;K7ESK9;O43934 ABBA01028730;ABBA01028731;AC005837;AC027694;AF015183;AF015184;AF015185;AF015186;AF015187;AF015188;AF015189;AF015190;AK000233;AK025849;AK308058;AMYH01008649;AMYH01008650;BC002753;BC062563;CH471099;NM_001242532;NM_001242533;NM_001242534;NM_001242535;NM_001242536;NM_001242537;NM_024311 AAB92495;AAB92496;AAB92497;AAH02753;AAH62563;ABM87232;BAA91025;EAW89449;EAW89450;EAW89451;EAW89452;EAW89453;EAW89454;NP_001229461;NP_001229462;NP_001229463;NP_001229464;NP_001229465;NP_001229466;NP_077287;O43934 Hs.732019;Hs.73965 1655915;1754459;2147224;2158926;2167324;2179240 D17S1544;D17S2101;D17S657;D4S2570E;RH12539;SHGC-132733 ET;FLJ20226;FLJ22196 UNC93-like protein MFSD11;major facilitator superfamily domain-containing protein 11;protein ET protein-coding ENSG00000092931 25458 13281 VALIDATED 3476989 MFSD2B major facilitator superfamily domain containing 2B 2 2 2 p23.3 24073356 24087524 + 24086457 24100649 + 24232953 24247145 + 12477932;18694395;19197348 388931 A6NFX1;H7BZN4;J3KNU6 ABBA01045100;AC104665;AMYH01010164;BC033385;BX647146;NM_001080473 A6NFX1;NP_001073942 Hs.407482 1655141;1664648;2125876;5014051;5037552;5113465;5123024 D8S2278;D8S2279;G11813;G16493;RH46847;RH68763;RH70337 OTTHUMP00000200728;major facilitator superfamily domain containing 2B protein-coding ENSG00000205639 37207 PROVISIONAL 1603217 MFSD6 major facilitator superfamily domain containing 6 2 2 2 q32.2 184868042 184961979 + 190981326 191075286 + 191273081 191367041 + 6480464 12477932;8125298;14702039;19401682;20123006;20379614;20978832 54842 B7Z7Y2;C9IYL1;C9J134;C9JAZ7;C9JJH2;H7C0X2;H7C284;Q6ZSS7 AB472299;ABBA01062384;ABBA01062385;ABBA01062386;AC092178;AC093388;AK000167;AK021420;AK098085;AK127176;AK225240;AK302647;AK302753;AMYH01011345;AMYH01011346;BC039058;BC050537;BC062757;CH471058;NM_017694 AAH50537;AAY24173;BAA90987;BAC86869;BAH13768;BAH13796;BAI82196;EAX10867;EAX10868;NP_060164;Q6ZSS7 Hs.418581;Hs.744117 1337032;1649423;1674288;1712791;1776740;1783916;2117152;2122258;2182772;5093218 119XB4;A009J35;D2S2262;D2S2905;D2S2935;G32590;RH120110;SHGC-106927;WI-15064;WI-21678 FLJ20160;MMR2;hMMR2 OTTHUMP00000163510;OTTHUMP00000205546;OTTHUMP00000205548;macrophage MHC class I receptor 2 homolog;macrophage MHC receptor 2;major facilitator superfamily domain-containing protein 6 protein-coding ENSG00000151690 24711 13369 613476 VALIDATED 1603890 MFSD6L major facilitator superfamily domain containing 6-like 17 17 17 p13.1 8731303 8733542 - 8641206 8643311 - 8700428 8702667 - 6480464 14702039;12477932;20379614 162387 Q8IWD5 ABBA01054925;AC009451;AK093092;AMYH01008091;AY129026;BC040487;BM986935;CH471108;NM_152599 AAH40487;AAM98769;BAC04050;EAW90042;NP_689812;Q8IWD5 Hs.213603 FLJ35773 major facilitator superfamily domain-containing protein 6-like protein-coding ENSG00000185156 26656 08186 VALIDATED 1606200 MFSD2A major facilitator superfamily domain containing 2A 1 1 1 p34.2 38702422 38717260 + 40193397 40208215 + 40420784 40435628 + 6480464 18988732;17145094;16710414;16303743;15498874;15489334;15221005;14702039;12975309;12477932;18694395;20236515;21677192;21736709;23534349;23177091 84879 E7EPI8;Q5SSK0;Q8NA29 AB073383;ABBA01023194;AF289609;AF370364;AF370393;AK027396;AK074186;AK075183;AK093223;AK291540;AK297991;AK301533;AL663070;AL834184;AMYH01000530;AMYH01000531;AY358636;BC006353;BC011587;BC092414;CH471059;CQ783264;DC297497;NM_001136493;NM_032793 AAH06353;AAH11587;AAH92414;AAL55793;AAQ15200;AAQ15229;AAQ88999;BAC04100;BAC11456;BAD38634;BAF84229;BAG60299;BAG63034;CAF86469;EAX07246;EAX07247;EAX07248;EAX07249;NP_001129965;NP_116182;Q8NA29 Hs.655177 1684688;1735528;2122272;5014051;5037552 AL010130;D1S1874E;D8S2278;D8S2279;RH80981 FLJ14490;FLJ35904;FP1147;HMFN0656;MFSD2;PP10484;RP3-342P20.1 OTTHUMP00000010893;OTTHUMP00000010894;major facilitator superfamily domain containing 2;major facilitator superfamily domain-containing protein 2A APPROVED protein-coding ENSG00000168389 25897 07861 614397 VALIDATED 1605597 MFSD3 major facilitator superfamily domain containing 3 8 8 8 q24.3 141910025 141912062 + 145705360 145707397 + 145734552 145736589 + 6480464 16189514;15489334;12477932;21139048 113655 Q96ES6 ABBA01005200;AC084125;AMYH01019155;AMYH01019156;BC011982;CH471162;NM_138431 AAH11982;EAW82072;EAW82073;EAW82074;EAW82075;EAW82076;NP_612440;Q96ES6 Hs.7678 1662469;1675644 RH65331;WI-15870 OTTHUMP00000228785;major facilitator superfamily domain-containing protein 3 protein-coding ENSG00000167700 25157 14003 PROVISIONAL 1605282 MFSD4 major facilitator superfamily domain containing 4 1 1 1 q32.1 178673289 178707766 + 203804785 203837960 + 205538112 205572046 + 6480464 15489334;14702039;12975309;12477932 148808 B7Z8X3;F5H391;Q8N468;Q96KX6 ABBA01027413;ABBA01027414;AC096533;AK057733;AK090831;AK091896;AK127321;AK293816;AK295148;AK304109;AK304120;AL713676;AMYH01001672;AMYH01001673;AY358107;BC016377;BC036549;CH471067;DC317463;NM_181644 AAH16377;AAH36549;AAQ88474;BAC03767;BAH11603;BAH11991;BAH14106;BAH14109;CAD28481;EAW91564;EAW91565;EAW91566;EAW91567;EAW91568;EAW91569;NP_857595;Q8N468 Hs.567714 1643816;1650624;1659547;1664992;1777143;1849869;2116997;2138212;2167440;2184618;5037552;5093184;5109281 A002U12;A009J04;D1S1425;D1S1856E;D1S2427;D8S2279;G32569;RH16681;SHGC-30130;SHGC-76230;SHGC-76231;SHGC-76239;SHGC-76242 DKFZp564C1416;DKFZp761N1114;FLJ25004;FLJ34577;FLJ45392;UNQ3064 OTTHUMP00000035320;major facilitator superfamily domain-containing protein 4 protein-coding ENSG00000174514 25433 13228 VALIDATED 1605912 MFSD5 major facilitator superfamily domain containing 5 12 12 12 q13.13 53294460 53297280 + 51932147 51934455 + 53645370 53648190 + 6480464 16303743;15489334;14702039;12975309;12477932;8125298;17207965;16344560;21890473 84975 F8VV69;Q6N075 ABBA01008321;AC021072;AK074684;AK097576;AK225998;AMYH01004479;AY358604;BC007703;BC067795;BX640649;CH471054;CQ782634;DA428788;DA565785;DA695979;NM_001170790;NM_032889 AAH07703;AAH67795;AAQ88967;ADQ31809;BAC05108;BAC11137;CAE45795;CAF85892;EAW96679;EAW96680;NP_001164261;NP_116278;Q6N075 Hs.654660 1682824 RH28518 MGC11308 OTTHUMP00000242632;major facilitator superfamily domain-containing protein 5 protein-coding ENSG00000182544 28156 14416 VALIDATED 1606209 MFSD9 major facilitator superfamily domain containing 9 2 2 2 q12.1 97534826 97554500 - 102700098 102719745 - 103333666 103353337 - 6480464 16303743;12477932;16344560;22952603;23400010 84804 F2Z2A2;F8WDV5;F8WE00;H7C3S7;Q8NBP5 ABBA01073894;ABBA01073895;AC007239;AC007251;AK075376;AK290589;AK296768;AK307178;AMYH01010826;BC006242;BC009310;CH471127;CS051423;DB316151;DC344851;NM_032718 AAH06242;AAH09310;AAX88847;AAY14910;BAC11577;BAF83278;BAG59348;CAI72206;EAX01787;NP_116107;Q8NBP5 Hs.720914 1682331;2107357;5015619 D11S3114;MGC11332__7666;RH98606 MGC11332 OTTHUMP00000161341;major facilitator superfamily domain-containing protein 9 protein-coding 28158 14418 VALIDATED 1604571 MFSD7 major facilitator superfamily domain containing 7 4 4 4 p16.3 616683 623713 - 665618 672973 - 675618 682973 - 6480464 15498874;15489334;14702039;12975309;12477932 84179 D6R9R0;D6RB07;D6RED0;D6RIZ6;Q6UXD7 ABBA01019337;AC107464;AK025922;AK292010;AMYH01013839;AY203936;AY358401;BC030246;CH471131;NM_032219 AAH30246;AAP34459;AAQ88767;BAB15283;BAF84699;EAW82658;EAW82659;NP_115595;Q6UXD7 Hs.567612 1673616;1742155;1797978;2136235;2157146 GDB:192428;PDE6B_1997;SHGC-59575;SHGC-67900;WI-19161 FLJ22269;LP2561 MYL5;OTTHUMP00000147528;OTTHUMP00000217194;OTTHUMP00000217195;OTTHUMP00000217196;OTTHUMP00000217197;major facilitator superfamily domain-containing protein 7;myosin light polypeptide 5 regulatory protein protein-coding ENSG00000169026 26177 08650 PROVISIONAL 1603194 MGARP mitochondria-localized glutamic acid-rich protein 4 4 4 q31.1 137519484 137533661 - 140406767 140420942 - 140187317 140201492 - 6480464 19325000;12477932;12036975;16565373;19528298;20029029;20107910;21447634;20016276;23209644 84709 Q8TDB4 ABBA01069953;AC024032;AF329088;AF484960;AMYH01014571;BC037987;BC104173;BC104174;CH471056;NM_032623 AAG59896;AAI04174;AAI04175;AAM09685;EAX05122;NP_116012;Q8TDB4 Hs.710036 C4orf49;CESP-1;HUMMR;MGC125827;MGC125828;OSAP OTTHUMP00000220048;corneal endothelium-specific protein 1;hypoxia up-regulated mitochondrial movement regulator;hypoxia up-regulated mitochondrial movement regulator protein;mitochondria-localized glutamic acid-rich protein;ovary-specific acidic protein;protein MGARP;uncharacterized protein C4orf49 APPROVED protein-coding ENSG00000137463 29969 17805 VALIDATED 1606119 MFSD8 major facilitator superfamily domain containing 8 This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008] 4 4 q28.2 129061027 129106554 - 128838960 128887139 - 6480464;7240710 19201763;19177532;18850119;17564970;16344560;16303743;15146197;12477932;11589000;10191125;19277732;20826447;18029348;20301601 256471 B7Z205;B7Z2B2;E7ERQ4;Q8NHS3 AA242881;ABBA01044796;ABBA01044797;ABBA01044798;ABBA01044799;AC099340;AK074564;AK294184;AK294439;AK294527;AK294957;AK315596;AMYH01014509;BC029503;BI553701;BQ015234;CB956202;CH471056;CN310788;CX873070;DA481070;NG_008657;NM_152778 AAH29503;ADZ15480;BAC11062;BAG37968;BAH11691;BAH11766;BAH11798;BAH11934;EAX05193;EAX05194;EAX05195;NP_689991;Q8NHS3 Hs.480701 2168668;2168670;2169892 RH48272;SHGC-16476;SHGC-50195 CLN7;MGC33302 OTTHUMP00000164425;OTTHUMP00000219818;ceroid-lipofuscinosis neuronal protein 7;ceroid-lipofuscinosis, neuronal 7, late infantile;major facilitator superfamily domain-containing protein 8 APPROVED protein-coding ENSG00000164073 28486 14557 610951;611124 REVIEWED 1318097 MGAM maltase-glucoamylase (alpha-glucosidase) This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008] 7 7 q34 141342148 141453016 + 141695679 141806547 + 1580863;6480464;6907045 22563462;9446624;19472353;18377903;18036614;17485087;12853948;12547908;12477932;3143729;3121301;16052631;20356844;19913121;20628086;21963094;23568457;22058037;22036121 8972 E7ER45;E7EW87;E9PEQ5;O43451 AACC02000019;ABBA01034115;ABBA01034116;ABBA01034117;ABBA01034118;ABBA01034119;ABBA01034120;ABBA01034121;ABBA01034122;AC073647;AC091684;AC091742;AF016833;AF432186;AF432202;AMYH01018004;AMYH01018005;AMYH01018006;BC120872;CH236950;CH471070;NM_004668 AAC39568;AAI20873;AAL83559;AAL83560;AAP21875;AAS07445;EAW83988;EAW83989;NP_004659;O43451 Hs.122785 1714815;1740631;1787926;2148520;2155762 D20S988;D7S1425;RH120074;SHGC-155418;SHGC-32830 MG;MGA OTTHUMP00000213038;OTTHUMP00000213066;alpha-glucosidase;brush border hydrolase;maltase-glucoamylase, intestinal APPROVED protein-coding ENSG00000257335 7043 01104 154360 REVIEWED 1351170 MGA MGA, MAX dimerization protein 15 15 15 q14 18720565 18829777 + 39739902 39849433 + 41952610 42062141 + 1580863;6480464 14702039;12477932;10601024;9628581;12748276;20936779;15960975;15231748;21963094;21988832;23000965;22939629;21693764;21890473;21906983;22325352 23269 B9EGR5;H3BP52;H3BTF4;H3BTN2;H3BU53;Q8IWI9 AA188751;AB011090;ABBA01038390;ABBA01038391;ABBA01038392;ABBA01038393;ABBA01038394;ABBA01038395;AC016134;AC073657;AI434570;AK022696;AK023360;AK025751;AK055203;AK056470;AK301207;AL050181;AL713737;AMYH01006576;BC007584;BC016982;BC038449;BC136659;BQ937819;BX643019;BX648098;DC391039;DR001080;NM_001080541;NM_001164273 AAH38449;AAI36660;BAA25444;BAB14186;BAB14543;BAB15232;BAG62783;CAB43310;NP_001074010;NP_001157745;Q8IWI9 Hs.187569 1715657;1721551;1773286;2177718;2177927;2190987;2217604;5037552 D8S2279;G59780;MARC_12255-12256:1005143983:1;MGA_3792;RH119274;RH47654;RH70197;WI-11636 FLJ12634;KIAA0518;MAD5;MXD5 MAX dimerization protein 5;MAX gene associated;MAX gene-associated protein APPROVED protein-coding ENSG00000174197 14010 VALIDATED 1313803 MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008] 2 2 q12 98602001 98714021 - 99235569 99347589 - 1580863;2317701;6480464;6907045 16434023 2187500;10024668;17953760;17488527;17006639;15688387;14702039;12477932;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2542563;2541446;19751437;21738484;23169300;21926972 11320 Q9UM21 AB000616;AB053222;ABBA01073965;ABBA01073966;AC064860;AC109826;AK092952;AK128366;AK291533;AK304393;AK309852;AK314024;AMYH01010797;AW138839;BC127107;BC127108;CH471127;NM_001160154;NM_012214 AAI27108;AAI27109;AAY14976;AAY24092;BAA86388;BAC55023;BAF84222;BAG65228;EAX01896;EAX01897;EAX01898;NP_001153626;NP_036346;Q9UM21 Hs.177576 1847883;2108821;2116518;2118923;2169978;5014051;5016596;5021872;5037552;5092652 A005M31;Cda19d01;D8S2278;D8S2279;G32240;GDB:631802;MGAT4A_9262;RH36125;RH46073;sY3084 GNT-IV;GNT-IVA;GnT-4a N-acetylglucosaminyltransferase IVa;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa;OTTHUMP00000161122;OTTHUMP00000203150;UDP-GlcNAc:a-1,3-D-mannoside b-1,4-acetylglucosaminyltransferase IV;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa;UDP-N-acetylglucosamine:alpha1,3-d-mannoside beta1,4-N-acetylglucosaminyltransferase;alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A;alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase;glcNAc-T IVa;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A APPROVED protein-coding ENSG00000071073 7047 06860 604623 REVIEWED 1349279 MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q35 180150149 180162654 - 180217541 180237137 - 1580863;6480464;6907045 19219857;1702225;16344560;16303743;15489334;15231748;15146197;14702039;17716624;12477932;12077311;9020882;7635144;1827260;1421759;19197348;19851299;19826906;22957033;21139048;21304485;21900206;20335257;23400010 4245 D6R9U2;D6RA48;D6RAK2;D6RB69;D6RBS3;D6RD15;D6RF69;D6RHZ8;D6RIS2;P26572 AB209239;ABBA01010082;ABBA01010083;ABBA01010084;AC022413;AF289558;AK057194;AK075429;AK090523;AK092256;AK094130;AK290769;AMYH01015972;BC003575;BG337235;CA426780;CH471165;CN409895;CR456861;DB270226;DC383950;L77081;M55621;M61829;NG_032928;NM_001114617;NM_001114618;NM_001114619;NM_001114620;NM_002406 AAA52563;AAA75523;AAH03575;AAL55742;ABM83429;ABM86642;BAC11616;BAD92476;BAF83458;BAG51880;BAG52177;BAG52510;BAG52821;CAG33142;EAW53739;EAW53740;EAW53741;EAW53742;EAW53743;EAW53744;EAW53745;NP_001108089;NP_001108090;NP_001108091;NP_001108092;NP_002397;P26572 Hs.519818 1651695;1668342;1772093;2108255;2112206;2115383 D5S2777;MGAT1_8470;RH47673;RH77949;STS-N39426;STS-W68218 GLCNAC-TI;GLCT1;GLYT1;GNT-1;GNT-I;MGAT N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I;OTTHUMP00000161546;OTTHUMP00000221720;OTTHUMP00000221721;OTTHUMP00000221722;OTTHUMP00000221739;OTTHUMP00000221740;OTTHUMP00000221750;OTTHUMP00000221751;OTTHUMP00000221752;OTTHUMP00000221753;OTTHUMP00000221754;OTTHUMP00000221755;OTTHUMP00000221756;alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase;glcNAc-T I APPROVED protein-coding ENSG00000131446 7044 01189 160995 REVIEWED 1345530 MGC1 megalocornea 1 (X-linked) 7240710 4251 1694318;1701734 DXS87;DXS94 7052 731495 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 14 14 q21 49157239 49159949 + 50087489 50090199 + 1581206;1599932;1599930;1580863;6480464;6907045;7240710 11805078;8808595;11228641 3099781;7635144;7797505;16303743;15489334;14702039;12621063;12477932;9579808;8892864;8218172;2829950;2649653;2542563;2355006;2283726;12560567;8093218;3264072;11530211;1736542;9109416;8673525;2541446;2187500;20378551;20301507 4247 B4DDK9;Q10469 ABBA01018111;AK056167;AK075051;AK075199;AK293231;AL139099;AMYH01005712;BC006390;BC018912;BI764270;BQ023756;CH471078;CS410226;NG_008920;NG_033054;NM_002408;U15128 AAA86956;AAH06390;ABM83639;ABM87858;BAG51637;BAG52082;BAG56770;CAL47688;EAW65758;NP_002399;Q10469 Hs.93338 1648634;1688201;1841944;1930350;2116917 ECD22175;REN36004;RH69276;RH71370;SHGC-36981 CDG2A;CDGS2;GLCNACTII;GNT-II;GNT2 Beta-1,2-N-acetylglucosaminyltransferase II;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II;OTTHUMP00000178926;UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II;alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase;glcNAc-T II;mannoside acetylglucosaminyltransferase 2 APPROVED protein-coding ENSG00000168282 7045 04013 212066;602616 REVIEWED 1604033 MGAT4C mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 12 12 12 q21 86035834 86903303 - 84896655 85756776 - 86373037 87232681 - 6480464;6907045 19240061;16344560;14702039;12477932;10570912;5701727;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2542563;2541446;2187500;20379614 25834 B4DRH2;F8VTY5;F8VWY2;Q9UBM8 AB024911;ABBA01053432;ABBA01053433;ABBA01053434;ABBA01053435;ABBA01053436;ABBA01053437;ABBA01053438;ABBA01053439;AC010196;AC016993;AC025157;AC079596;AC079865;AC087887;AC093122;AC128681;AC139663;AC139697;AK127727;AK299253;AMYH01004638;AMYH01004639;AMYH01004640;BC026068;BC035851;BC064141;BI667691;CH471054;DA795621;NM_013244 AAH26068;AAH64141;BAA83087;BAG54560;BAG61284;EAW97402;NP_037376;Q9UBM8 Hs.589093 1340531;1341374;1648198;1656350;1666513;1672775;1704538;1715831;1720565;1724189;1724545;1746243;1746245;1746351;1746353;1746415;1746875;1746877;1854761;2111508;2171715;2182878;2185357 D12S1068;D12S1286;D12S1289;D12S1302;D12S1719;D12S2039;D12S2076;D12S294;D12S67;G59236;G64421;G64422;G64423;G64449;G64514;G64785;G64786;RH119612;RH121230;RH122532;SHGC-83072;WI-18146;WI-22550 GNTIVH;HGNT-IV-H N-acetylglucosaminyltransferase IV homolog;N-acetylglucosaminyltransferase IVc;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc;OTTHUMP00000242278;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc;UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV;UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog;alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C;glcNAc-T IVc;gnT-IVc protein-coding 30871 09575 607385 VALIDATED 737363 MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011] 2 2 q21.3 134728300 134922938 + 135011830 135212192 + 1580863;6480464;6907045 8292036;19236842;19225046;18931531;18845630;18649738;17971775;17878270;17488527;17451637;16924681;16638859;16467879;15809094;15313475;15044007;15014031;11872751;11864986;10700233;10580127;10395745;9235963;19403558;19787216;19846580;19910543;19911372;20089585;20117844;20468071;21115203;23005037;21631992;23107376;12477932;14702039;16344560;21676538;8619474;9110174;20584650;21908519;22589738;22537550;22614033;23351704;23357422;22780953;23671930 4249 Q09328;Q71VM6 ABBA01028192;AC013276;AC013718;AC016906;AF004882;AF055029;AF113921;AK056461;AK125207;AMYH01011113;BC041917;BU191961;BX647087;CH471058;D17716;DB223638;DB237089;NG_030324;NM_002410 AAB81939;AAD22449;AAI56314;AAI57049;AAX93248;AAY14747;AAY14791;BAA04570;EAX11657;EAX11658;NP_002401;Q09328 Hs.4988 1337735;1695296;1696438;1714865;1716317;1717257;1720005;1723987;1739923;1761549;1771494;1851276;1856900;2126599;2133546;2150757;2172421;2180459;2183897;7186148 A002K40;D2S1625E;D2S1989;D2S2122;D2S2507;D2S267;D2S2689;D2S368;RH118945;RH120427;RH121188;RH122043;RH123980;RH36589;RH41981;RH68210;SHGC-145545;SHGC-63014;SHGC-79738 DKFZp686B24166;FLJ31899;FLJ43217;GNT-V;GNT-VA N-acetylglucosaminyl-transferase V;OTTHUMP00000162459;alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A;alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase;glcNAc-T V;mannoside acetylglucosaminyltransferase 5;n-acetylglucosaminyltransferase v APPROVED protein-coding ENSG00000152127 7049 03467 601774 REVIEWED 1602226 MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008] 5 5 q35 179156711 179166547 - 179224597 179233952 - 6480464;6907045 11530211;10372966;17488527;17006639;16434023;15146197;14702039;12975309;12477932;8125298;8093218;3264072;3099781;2829950;1736542;9109416;8673525;2649653;2542563;2541446;2187500;19913121;20628086;16169070;22939629;21906983 11282 E5RFL0;E5RFS3;H0YB63;H0YB84;H0YB89;H0YC11;H0YC13;H0YC56;H0YC79;Q9UQ53 AB000624;ABBA01010042;AC008393;AK023137;AK225490;AK225492;AL162067;AL537522;AMYH01015958;AMYH01015959;AY358984;BC009464;BC051835;BQ882570;BQ939735;CH471165;CN369872;NM_014275;NM_054013 AAH09464;AAH51835;AAQ89343;BAA83464;BAG51162;CAB82404;EAW53788;EAW53789;EAW53790;EAW53791;EAW53792;EAW53793;EAW53794;EAW53795;NP_055090;NP_463459;Q9UQ53 Hs.567419 1740437;1769260 D5S2244E;RH66666 GNT-IV;GNT-IVB N-acetylglucosaminyltransferase IVb;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVb;OTTHUMP00000161519;OTTHUMP00000161520;OTTHUMP00000224413;OTTHUMP00000224414;OTTHUMP00000224762;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV;UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVb;alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B;alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase;aminyltransferase;glcNAc-T IVb;mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B APPROVED protein-coding ENSG00000161013 7048 05190 604561 REVIEWED 1343088 MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 22 22 q13.1 38183271 38218145 + 39853325 39888199 + 1580863;6480464;6484113;6907045 22451656;8370666;19276077;17652175;16344560;15489334;15461802;14998999;12716887;12477932;12427758;11768033;11011143;10591208;8889548;8706690;8666260;14623284;19403558;19776078;20089585;21368380;23382691;23671930 4248 B0QY92;B0QY93;Q09327 ABBA01055572;ABBA01055573;AK125361;AK313664;AL022312;AMYH01012779;BC075025;BC075026;BC113383;BC113718;BG683192;BM675328;CH471095;CR456519;D13789;D85377;D85378;D85379;DA261678;DA370485;DA519457;L48489;NM_001098270;NM_002409;Z83845 AAH75025;AAH75026;AAI13384;AAI13719;ADR83204;BAA02937;BAA19868;BAG36416;CAG30405;CAK54550;CAK54849;EAW60332;NP_001091740;NP_002400;Q09327 Hs.276808 1678833;1716237;1757131;1778794;5017227 G38154;RH121145;RH78550;RH80746;SHGC-144567 FLJ43371;GNT-III;GNT3;MGC141943;MGC142278 GlcNAc-T III;N-acetylglucosaminyltransferase III;N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III;OTTHUMP00000028574;OTTHUMP00000199142;beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase APPROVED protein-coding ENSG00000128268 7046 07058 604621 REVIEWED 1606877 MGC12965 similar to Cytochrome c, somatic 11 q13.4 73882133 73886935 + 12477932 374408 Q8TB74 AP001372;BC019340;BX647206;CH471076;NM_198519 AAH19340;EAW74941;NP_940921;Q8TB74 Hs.662812 protein-coding 11306 1313067 MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008] 17 17 q25.2 72376393 72458066 + 74864798 74946471 + 6480464;6907045 18838383;16857188;16606368;16413118;14623122;14617637;14561752;12941944;12477932;8093218;3264072;3099781;2829950;1736542;11530211;9109416;8673525;2649653;2541446;2187500;22823124;19913121;20628086;19846580;20379614;22683750;23088713 146664 H3BQ65;H3BR20;Q3V5L5 AB109185;AB114297;AB235153;ABBA01028724;ABBA01028725;ABBA01028726;AC016168;AK123189;AMYH01008652;AMYH01008653;AW191036;BC036948;BC041577;BC062354;BC063862;BC144361;CH471099;NM_001199172;NM_144677;NM_198955 AAH62354;AAH63862;AAI56824;BAC84969;BAD02406;BAE44474;EAW89457;EAW89458;EAW89459;EAW89460;NP_001186101;NP_653278;NP_945193;Q3V5L5 Hs.144531 1336818;1703326;1711372 D17S751;SHGC-68567;SHGC-83342 FLJ25132;GnT-IX;GnT-VB;KIAA2008 N-acetylglucosaminyl-transferase Vb;N-acetylglucosaminyltransferase IX;alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B;alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B;beta(1,6)-N-acetylglucosaminyltransferase V;glcNAc-T Vb;hGnTVb;mannoside acetylglucosaminyltransferase 5B;mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B APPROVED protein-coding ENSG00000167889 24140 14392 612441 VALIDATED 1603001 MGC16121 uncharacterized protein MGC16121 X X X q26.3 134064225 134067478 - 133506122 133516164 - 133677407 133680660 - 15146197;12477932 84848 ABBA01042454;ABBA01042455;AC004383;AMYH01022993;AW378319;BC007360;BX090522;CH471107;CN297454;NR_024607 EAX11759 Hs.416379 1680006;1691334;5094466 G54814;RH92564;RH99019 APPROVED miscrna ENSG00000223749 06638 VALIDATED 1601943 MGC2408 hypothetical protein MGC2408 3 q27.1 185450143 185459241 + 12477932 84291 AC061705;BC005835;BC012449;BC069005;CH471052;CR595932;CR620009;NM_032331 AAH05835;AAH12449;AAH69005;EAW78277;NP_115707;Q6NTG7;Q9BRZ8 Hs.146161 protein-coding 14493 1604603 MGC2752 CENPB DNA-binding domains containing 1 pseudogene 19 19 19 q13.43 56129505 56138500 + 63778639 63787367 + 59086766 59095762 + 12477932;11329013 65996 AA418278;ABBA01020756;ABBA01020757;AC016629;AK000827;AK098293;AK311347;AL708489;AMYH01010041;BC000766;BC001952;BC025349;BC043401;BC065480;BC067232;BC098570;BC119702;BC119703;BG214270;CH471135;NR_026052 EAW72619 Hs.541177 1694618;1722289;2114252;2123301;2183499;5014051;5014311;5015619;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;G43332;G60058;REN95794;RH78436;STS-N93869;STS-T03365 FLJ18389;MGC111383;MGC149628 APPROVED pseudo ENSG00000213753 14527 VALIDATED 1348393 MGCR meningioma chromosome region 7240710 4252 7053 607174 1601930 MGC35440 hypothetical protein MGC35440 19 q13.11 37588536 37595933 + 12477932 147990 Q7Z4H5 AC007773;AF533711;BC029162;NM_153220 AAH29162;AAQ09024;NP_694952;Q7Z4H5;Q8N6Q4 Hs.194392 protein-coding 14607 2290201 MGC21881 uncharacterized locus MGC21881 9 9 q21.11 41867100 41945141 - 41952399 41955076 - 16189514;14702039;12477932 389741 A6NN06 AK092305;AK095690;AK127789;BC000869;BC015151;BC019880;BC027338;BC040170;BC081570;BX664615;NR_015363 A6NN06 Hs.380240;Hs.732469;Hs.733665 5105701;5124817 RH78752;SHGC-143369 APPROVED miscrna 17520 PREDICTED 5133392 MGC39584 uncharacterized LOC441058 4 q35.2 190709309 190735074 + 12477932 441058 Q8NCQ8 ABBA01132106;AC018687;AC018692;AW303457;BC029568;NR_038377 AAH29568 Hs.130535 1731779;2122338;2179385 D4S163;D4S3186;G01808 APPROVED miscrna 17542 VALIDATED 1602621 MGC50722 uncharacterized MGC50722 9 109692458 109715154 - 12477932 399693 Q8IVT4 ABBA01030069;ABBA01030070;AK125773;AMYH01025390;BC031926;BC042107;FP326719;NM_203348 AAH31926;AAH42107;BAC86282;NP_976223 Hs.530383 hypothetical protein LOC399693;uncharacterized protein LOC399693 APPROVED protein-coding 14668 PREDICTED 1602946 MGC70870 C-terminal binding protein 2 pseudogene 16344560;14702039;12477932 403340 Q8NAS8 ABBA01006223;ABBA01006224;AC011841;AK092162;BC063803;BC106037;DA695335;NR_003682 BAC03819 Hs.572501 1694690;2109513;5113787 G43532;MGC70870__7730;RH79776 pseudo 14702 VALIDATED 2304143 MGC45800 uncharacterized LOC90768 4 4 4 q34.3 180392107 180397616 - 183299797 183303396 - 183060159 183065668 - 19010793;16344560;15146197;14702039;12477932;20944657;21832049 90768 ABBA01070487;AC108142;AK024300;AMYH01014757;BC033172;CH471056;CN360795;DA736633;NR_027107 BAG51287;EAX04707;EAX04708 Hs.175465 1686476 RH92959 APPROVED miscrna 14643 PREDICTED 1316675 MGME1 mitochondrial genome maintenance exonuclease 1 20 20 20 p11.23 18024307 18046309 + 17897762 17919761 + 17949762 17971761 + 6480464 16189514;15489334;14702039;12477932;11780052;17207965;20877624;21139048;23313956;23358826 92667 Q5QPE7;Q5QPE8;Q9BQP7 ABBA01054034;ABBA01054035;AF306684;AF306685;AF306686;AK027503;AK309563;AK309995;AK310282;AK315532;AL121585;AMYH01011740;BC016869;CH471133;NM_052865 AAH16869;ADQ32296;BAB55160;BAG37912;EAX10260;EAX10261;EAX10262;NP_443097;Q9BQP7 Hs.320823 1336375;1647111;1678339 D20S885;RH94213;STS-AA022623 C20orf72;DDK1;FLJ14597;MTDPS11;bA504H3.4 OTTHUMP00000030341;OTTHUMP00000030342;hypothetical protein LOC92667;mitochondrial genome maintenance exonuclease 1;uncharacterized protein C20orf72 APPROVED protein-coding ENSG00000125871 16205 12783 615076;615084 PROVISIONAL 737291 MGP matrix Gla protein The protein encoded by this gene is secreted and likely acts as an inhibitor of bone formation. The encoded protein is found in the organic matrix of bone and cartilage. Defects in this gene are a cause of Keutel syndrome (KS). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 12 12 p12.3 14926094 14930095 - 15034115 15038853 - 1582503;1582502;1600783;1582501;1582504;1582511;1580863;2293584;2293586;2293578;6480464;7240710 11073842;16973975;9916809;15045141;8200973;10460895;17960611;11358798;1399132 19453261;19352064;19327888;19190822;19151998;18971553;18841280;18401181;18369157;18286307;18222176;17890861;17848178;17724449;17670744;17643059;17509359;17014561;16735944;16392639;16210837;15982861;15864013;15744522;15489334;15280384;14963895;14587031;12721790;12477932;12207096;11741887;11684076;10737800;9610006;8061611;3387234;2394711;2216462;1939157;15607035;19350115;19661459;19712474;19730704;20452482;20479029;20133489;21143859;16712791;19913121;20628086;20673868;20368306;23046575;21294711;21765215;23233942;21870514;22239033;21724703;23307874;23062766;23223140;23110920;22115341;22796540 4256 H0YGZ6;P08493 ABBA01067886;AC007655;AK312029;AMYH01004304;AW997681;AY542304;BC005272;BC070314;BC093078;BF699158;BT006733;CB069816;CB108937;CH471094;CR450358;DQ004248;M55270;M58549;N85639;NG_023331;NM_000900;NM_001190839;X07362;X53331 AAB53765;AAB53766;AAH05272;AAH70314;AAH93078;AAP35379;AAT08173;AAY16978;ABM83421;ABM86633;BAG34966;CAA30287;CAA37418;CAG29354;EAW96333;EAW96334;NP_000891;NP_001177768;P08493 Hs.365706 1669006;1674553;1683112;1695028;1742909;2145144 D12S1925;G44728;GDB:214849;RH93429;SHGC-12684;STS-X53331 GIG36;MGLAP;NTI OTTHUMP00000239335;OTTHUMP00000239337;cell growth-inhibiting gene 36 protein;matrix Gla protein APPROVED protein-coding ENSG00000111341 7060 01112 154870;245150 REVIEWED 734078 MGLL monoglyceride lipase This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 3 3 q21.3 128890599 129024741 - 127407905 127542093 - 1580863;6480464 9495531;19233690;19014633;18721756;18452279;17621164;16806233;15489334;14702039;12477932;11470505;9110174;8889548;8619474;16169070;21118518;21308848;19913121;20628086;20855465;20464001;19957260;19962385;20079333;20976246;21543155;23509962;21802006;15342556;16344560;22664939;22349814;22827915 11343 B2ZGL7;C9J8Q3;C9JAM4;E7EWX8;H7C4E0;H7C599;H7C5K5;Q99685 ABBA01020884;AC023593;AC117480;AF131821;AI125141;AI379999;AJ270950;AK025983;AK026389;AK091314;AK093841;AK125135;AK304844;AK310874;AK315529;AL365376;AL833254;AMYH01013457;AW166623;AY172950;BC000551;BC006230;BC047298;BC073823;BE302457;BG035493;BG249567;BM051374;BM669411;BP307995;BX403703;BX640777;CH471052;CR456835;DA240965;EU660904;HB974099;HB974261;HD031509;HD031671;NM_001003794;NM_001256585;NM_007283;U67963 AAB39616;AAH00551;AAH06230;AAO45694;ABM82881;ABM86067;ACD37712;BAG37910;BAG52334;BAH14267;CAC43316;CAE45873;CAG33116;CBG21711;CBG21792;CBV34969;CBV35050;EAW79329;EAW79330;EAW79331;NP_001003794;NP_001243514;NP_009214;Q99685 Hs.277035 1658916;1670929;1671319;1727107;1728637;1778230;1852388;2121129;2143083;2145668;2164592;2187192;5015861;5019070;5024039;5037552;5123905;7185938 D10S16;D16S325;D3S3895;D3S3900;D8S2279;G09417;G30009;G44334;G62957;G63610;RH11571;RH11831;SGC32737;SHGC-31856;SHGC-77305;SHGC-77310;SHGC-77321 HU-K5;HUK5;MAGL;MGL OTTHUMP00000216063;lysophospholipase homolog;lysophospholipase-like;monoacylglycerol lipase;monoglyceride lipase APPROVED protein-coding ENSG00000074416 17038 17574 609699 REVIEWED 1344260 MHAC microhydranencephaly 7240710 53341 1298279;1334547;1340954;1342288 D16S490;D16S497;D16S672;D16S748 7065 1350508 MHP2 migraine, hemiplegic 2 7240710 9403481 337931 7069 104290;602481 1349036 MHS2 malignant hyperthermia susceptibility 2 7240710 1427885 4264 7071 1352365 MHS4 malignant hyperthermia susceptibility 4 7240710 7887423 4265 7073 1350823 MHS6 malignant hyperthermia susceptibility 6 7240710 9175745 4266 1337476;1340664;7184468 D5S398;D5S419 7075 732641 MGEA5 meningioma expressed antigen 5 (hyaluronidase) The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008] 10 10 q24.1-q24.3 103534199 103568165 - 103544200 103578222 - 2305957;2311625;6480464 16899550;18445751 21178104;22730328;9811929;18641620;17546623;16517082;16505006;16356930;15489334;15485860;15345747;15302935;14702039;12477932;12359146;12168954;11788610;11341771;11148210;9734811;19913121;20628086;16169070;19423084;19615732;19715310;20198314;20863279;20673219;16434389;21471514;21163940;22863883;22990118;21717526;22783592;21900206;19322201;21139048;21890473;21906983;22311971;21567137;22505724 10724 B4DYV7;E9PGF9;H7C3X0;O60502 AB014579;ABBA01063186;ABBA01063187;ABBA01063188;AC010789;AF036144;AF307332;AK002091;AK027008;AK302626;AMYH01003009;AMYH01003010;BC001343;BC014201;BC032591;BC039583;BC047877;BQ016159;CH471066;DC353958;NM_001142434;NM_012215 AAD05385;AAG21428;AAH01343;AAH39583;AAH47877;BAA31654;BAG51014;BAG63869;EAW49741;EAW49742;EAW49743;EAW49744;NP_001135906;NP_036347;O60502 Hs.500842 1657319;1693714;1736092;2123535;2164128;2176862;2217606;5119449 D10S1358E;D10S1366E;D10S2155;D20S985;MGEA5_3775;RH66748;SHGC-58635;WI-14063 FLJ11229;FLJ23355;KIAA0679;MEA5;NCOAT;OGA O-GlcNAcase;OTTHUMP00000020345;OTTHUMP00000020346;OTTHUMP00000020347;bifunctional protein NCOAT;hyaluronidase in meningioma;meningioma-expressed antigen 5;nuclear cytoplasmic O-GlcNAcase and acetyltransferase APPROVED protein-coding ENSG00000198408 7056 04949 604039 VALIDATED 7243373 MIA-RAB4B MIA-RAB4B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring MIA (melanoma inhibitory activity) and RAB4B (RAB4B, member RAS oncogene family) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 20967262;22080838;22446962 100529262 ABBA01040789;ABBA01040790;ABBA01040791;AC008537;AC020945;AC098779;AF087861;AK302147;AMYH01009808;NR_037775 AAP97171;BAG63518 Hs.631539 miscrna 48352 VALIDATED 735904 MGMT O-6-methylguanine-DNA methyltransferase 10 10 q26 131155456 131455358 + 131265454 131565783 + 1580863;2317637;2317628;2317636;2317664;2317686;2317690;2317691;2316960;2317340;2317635;2317681;2317693;2317684;2317667;2317672;2317675;2317632;2317688;2317648;2317661;1599637;2317662;6480464 18158568;19118063;18708406;9393761;12483540;17234722;15741301;20182810;17278096;12584572;19274096;14970867;15799820;14669534;15885889;16014702;17550320;15455350;16844323;14501508;16886601;11986189 17342321;22454423;21968944;22246327;21922591;2188979;2405387;8434121;19617759;19544111;19536092;19513524;19451595;19356788;19339270;19309276;19237606;19179423;19164452;19161160;19148529;19124499;19116388;19107910;19100509;19061338;19060925;19056675;19056673;19052983;19027227;18997474;18992637;18990748;18973931;18952979;18830263;18830187;18812520;18803403;18712569;18676680;18616639;18584351;18580490;18556773;18555750;18546261;18516290;18509181;18467255;18445844;18400046;18386788;18353991;18349282;18270339;18268114;18240147;18204074;18199718;18192966;18156172;18091318;18089777;18086781;18028895;18006925;18004504;17965865;17957803;17938272;17898525;17721049;17712558;17700363;17691113;17666372;17652530;17621591;17597106;17569599;17547775;17523078;17500046;17493032;17487400;17482892;17479411;17451198;17352030;17285603;17276933;17219056;17192931;17164358;17158087;17138560;17040931;16996781;16791592;16788379;16777993;16733832;16633920;16609022;16533425;16517062;16436636;16385589;16373199;16369171;16285744;16284370;16226712;16203797;16195237;16174854;16094607;16038584;16030116;16030112;16030105;16007001;16000301;15964013;15943786;15915369;15831531;15809756;15809347;15802298;15800999;15785933;15735757;15657354;15489334;15455376;15332332;15327835;15309527;15302935;15254699;15225156;15221026;15140540;15041700;14647440;14614014;14522053;12963053;12896905;12883749;12849917;12727789;12720298;12624503;12592365;12549918;12503076;12477932;12469220;12402349;12185595;12170182;12119040;12087469;11980845;11956078;11911967;11872960;11802813;11719438;11564893;11548124;11062157;10747039;10667577;10606635;10585585;9494526;9363996;8612308;8573590;8472340;8324751;8202360;7954470;7893370;7766621;7756667;7678140;7614699;6690082;2947677;2394694;2359121;1985934;1635460;1547538;1423836;1387001;1384961;15765097;21355081;20451846;20457618;21220612;21269507;19740564;20428822;20682398;20682983;21425258;16385451;19019173;19019175;19079989;19170196;19224763;19305157;19589246;19589911;19625176;19656999;19667985;19692168;19695681;19724855;19734844;19741564;19773381;19787267;19789190;19789298;19805672;19807915;19809523;19826048;19834398;19856394;19857042;19860620;19861461;19892775;19901104;19902366;19954624;19956635;19996271;20026607;20044616;20044995;20061190;20096652;20150365;20150366;20150378;20150384;20167816;20206583;20214209;20223788;20232390;20305537;20378691;20379614;20412404;20453000;20496165;20556478;20593220;21140203;21226457;19832838;20354736;20585787;21061089;21148162;20091185;20465388;20179017;20552207;20947886;20232102;20589656;20470789;20202118;20372840;20309962;20731661;21075068;19913121;20131314;20192566;20627446;20628086;20644561;20650735;20708344;20817763;20167086;20935218;22101741;22322613;22614944;21358597;21375764;21249131;21263241;12016156;21107199;22430443;21029181;21405945;21528672;20652362;20686820;21747645;21418965;21365007;22672670;22675172;22810209;22976800;23328811;20857319;21288129;21829728;21626073;21706233;21789683;21792693;22012047;21865140;19047179;21200087;21274674;21311951;20979814;21331613;21424568;21756781;22097602;21318329;21674174;21910919;22270848;22287028;22326863;22481706;21895872;21450028;21667225;21890473;22875158;21394635;22020830;22544212;22549447;22083523;21287394;21725802;21792731;21822153;21914791;21957016;22001163;22019339;22040408;22262716;22274924;22280500;22281465;22390413;22798502;21928112;22116316;22213062;22975219;23041956;23335782;22288845;22655594;22674304;23135024;22810491;22994708;23223340;23244153;22915192;23000965;22772967;23047291;23192594;23245659;23300791;22986464;22228432;22335907;22414280;22505724;22264301;23275143;22139906;22380407;23042021;23387271 4255 B4DEE8;P16455 ABBA01009109;ABBA01009110;ABBA01009111;ABBA01009112;ABBA01009113;ABBA01009114;ABBA01009115;AK293593;AL157832;AL353725;AL355531;AMYH01003178;AMYH01003179;AMYH01003180;BC000824;BI520029;BT006714;CH471066;DC387686;M29971;M31767;M60761;NM_002412;S52068;X54228 AAA52317;AAA59594;AAA59596;AAD13867;AAH00824;AAP35360;ABM81649;ABM84827;BAG57059;CAA38137;EAW49166;EAW49167;NP_002403;P16455 Hs.501522 1660982;1758611;1788332;1788334;1789867;1789869;1792314;2108259 G38294;G67483;G67484;MGMT_7829;PMC140684P9;SHGC-148919;csnpmgmt-pcr3-1;csnpmgmt-pcr4-1 O6-MGMT 0-6-methylguanine-dna methyltransferase;6-O-methylguanine-DNA methyltransferase;O-6-methylguanine-DNA-alkyltransferase;O6-methylguanine-DNA methyltransferase;OTTHUMP00000020741;methylated-DNA--protein-cysteine methyltransferase;methylguanine-DNA methyltransferase protein-coding 7059 01135 156569 VALIDATED 737343 MGST1 microsomal glutathione S-transferase 1 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012] 12 12 p12.3-p12.1 16391343 16408611 + 16500076 16530123 + 1580863;1358122;6480464;6907045 14576844 7566098;3372534;19343046;17714764;17483957;16384981;15489334;15338373;14726533;12818425;12477932;11587073;11034337;10777602;10673221;10524215;10095775;8812420;7663172;2307478;1544849;12359356;20727966;20195357;23314968;18781797;21139048;21963094;11752456;22589738 4257 F5GX73;F5H613;F5H6X2;F5H760;F5H7F6;P10620 AA314967;ABBA01067900;AC007528;AK291148;AK309707;AMYH01004305;AV655242;AW166965;AY368173;BC005923;BC056863;BE568125;BG569388;BG617746;BG778603;BT006982;CH471094;CR407629;H49331;J03746;NM_001260511;NM_001260512;NM_001267598;NM_020300;NM_145764;NM_145791;NM_145792;NR_048545;NR_048547;R86750;U46498;U46499;U71213 AAA35934;AAB17184;AAC50711;AAH05923;AAP35628;AAQ55111;BAF83837;CAG28557;EAW96362;EAW96363;EAW96364;EAW96365;EAW96366;EAW96367;EAW96368;EAW96369;NP_001247440;NP_001247441;NP_001254527;NP_064696;NP_665707;NP_665734;NP_665735;P10620 Hs.389700 1655061;1667317;1676720;1681320;1688973;1726121;1796320;2184028 D12S1936;G62228;MGST1_1547;RH17585;RH79624;RH80205;RH91391;SHGC-36494 GST12;MGC14525;MGST;MGST-I OTTHUMP00000239523;OTTHUMP00000239524;OTTHUMP00000239525;OTTHUMP00000239528;OTTHUMP00000239530;glutathione S-transferase 12;microsomal GST-1;microsomal GST-I;microsomal glutathione S-transferase 1 APPROVED protein-coding ENSG00000008394 7061 00705 138330 REVIEWED 1353673 MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004] 16 16 16 p13.3 4883683 4949753 + 4614854 4680974 + 4674825 4740975 + 1580863;1641947;5144214;6480464;6907045 16638826;20654690 18029348;19524515;19320733;17229889;16344560;15489334;15146197;12477932;12438443;9628581;19549727;19690564;19737927;20379614;21862608;19703557;21987572;21139048;21890473;21906983;19322201;23253940;22493164;22268729;22797925 23295 B4DR12;E9PB19;K7EIM7;K7EJN3;K7EPJ5;K7ERA1;O60291 AB011116;ABBA01026781;ABBA01026782;ABBA01026783;AC023830;AK299052;AMYH01007107;BC007627;BC014199;BC050389;CH471112;CN314787;DA118421;DA590130;EF471397;EF471398;NM_001142289;NM_001142290;NM_001142291;NM_015246;NR_102267 AAH50389;ABO69623;ABO69624;BAA25470;BAG61124;EAW85279;EAW85280;EAW85281;EAW85282;NP_001135761;NP_001135762;NP_001135763;NP_056061;O60291 Hs.526494 1774024;2115589 RH66031;RH78602 KIAA0544;RNF156 E3 ubiquitin-protein ligase MGRN1;RING finger protein 156;mahogunin RING finger protein 1;mahogunin, ring finger 1;probable E3 ubiquitin-protein ligase MGRN1 APPROVED protein-coding ENSG00000102858 20254 07397 607559 VALIDATED 1606629 MIAT myocardial infarction associated transcript (non-protein coding) This gene encodes a non-coding RNA that may constitute a component of the nuclear matrix. Altered expression of this locus has been reported to be associated with a susceptibility to myocardial infarction.[provided by RefSeq, Feb 2010] 22 22 22 q12.1 10857234 10876230 + 25383484 25402438 + 27053446 27072441 + 6480464;7240710 17623775;17066261;14702039;16344560;8889548;23251661;23628989 440823 AB263414;AB263415;AB263416;AB263417;ABBA01055203;ABBA01055204;ABBA01055205;AK095686;AK098753;AK098833;AK127256;AMYH01012684;BM677447;DA213485;NG_016621;NR_003491;NR_033319;NR_033320;NR_033321;Z99774 Hs.517502 1646077;1681058;1711470;1711478;1770910;1850813;2135423;2159082;2185686;5023228 A007B38;D22S1103;D22S1674;D22S985E;G49192;G49196;IB1309;RH28624;RH47424;SGC30519 C22orf35;FLJ25887;FLJ25967;FLJ38367;FLJ45323;LINC00066;NCRNA00066;Rncr2 APPROVED miscrna ENSG00000225783 33425 608446;611082 REVIEWED 1322562 MGST2 microsomal glutathione S-transferase 2 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011] 4 4 q28.3 140806372 140844857 + 140586922 140661899 + 1580863;1358122;6480464;6907045 14576844 8703034;19343046;16773312;16498398;15489334;12477932;11322876;10673221;9302651;9278457;8889549;16169070;20379614;9092565;16344560 4258 Q99735 AA122237;ABBA01069968;ABBA01069969;AC108053;AC112236;AK130948;AK307231;AMYH01014571;AY341028;BC025416;BE312976;CH471056;CR407640;DB257575;GN344085;NM_001204366;NM_001204367;NM_001204368;NM_002413;U77604 AAC51768;AAH25416;AAP88934;ABM84310;ABM87703;CAG28568;CAY55978;EAX05111;EAX05112;EAX05113;NP_001191295;NP_001191296;NP_001191297;NP_002404;Q99735 Hs.81874 1757483;1769168 RH71258;SHGC-144854 FLJ27438;GST2;MGC14097;MGST-II OTTHUMP00000164539;OTTHUMP00000220226;OTTHUMP00000220227;microsomal GST-2;microsomal GST-II;microsomal glutathione S-transferase 2;truncated microsomal glutathione S-transferase 2 APPROVED protein-coding ENSG00000085871 7063 03436 601733 REVIEWED 1345216 MIC12 antigen identified by monoclonal antibody 30.2A8 3979119 4273 7079 107254 1351247 MIC7 antigen identified by monoclonal antibody 28.3.7 3871395 4270 7088 108990 1319985 MIA2 melanoma inhibitory activity 2 14 14 14 q13.2 19567770 19587221 + 38772876 38792326 + 39703125 39722575 + 6480464 17881540;16381901;15489336;14702039;12586826;12477932;11230166;11076863;22120627;22745667 117153 G3V3F6;G3V4M1;Q96PC5 ABBA01061551;ABBA01061552;AF390175;AK026057;AK314069;AL132639;AMYH01005683;BC035981;BC130537;BC130563;BX495701;BX648228;CH471078;NM_054024 AAH35981;AAI30538;AAI30564;AAL26990;ADR83104;BAB15339;BAG36770;CAL38130;CAL38459;EAW65818;EAW65819;NP_473365;Q96PC5 Hs.287694 1728469 G63671 FLJ22404 OTTHUMP00000178898;melanoma inhibitory activity protein 2 protein-coding ENSG00000150526 18432 12149 608001 VALIDATED 1605216 MIA3 melanoma inhibitory activity family, member 3 1 1 q41 220858067 220907974 + 222791444 222841351 + 6480464 21264445;19269366;17726152;17044017;19336575;19198609;17786351;17634449;16344560;15183315;14702039;12975309;12477932;9039502;20694560;19955471;20379614;20738937;20971364;21378990;21078624;22114354;21139048;21890473;22577832 375056 G8JLC6;H7BY50;H7C0T4;Q5JRB0 ABBA01048046;AK025122;AK025506;AK026489;AK096526;AK290335;AK296712;AK307412;AL592148;AMYH01001747;AY359091;BC031805;BC047116;BP423646;CH471100;CK724924;CQ834356;D87742;DA040423;DQ166034;L34688;NM_198551 AAB00324;AAH47116;AAQ89449;AAZ95512;BAA13448;BAC04810;BAF83024;BAH12416;CAH05393;EAW93267;NP_940953;Q5JRA6 Hs.118474 1646755;1647866;1648374;1719395;2117623;2131929;2135457;2140001;2140003;2144282;2146715;2185678;5022200 A005Z29;D13S918;D1S2190;D1S2529;G20628;G29198;L18426;RH12251;RH123426;SGC34788;SHGC-57047;SHGC-76389;SHGC-76396 ARNT;D320;FLJ21469;FLJ39207;KIAA0268;RP11-378J18.4;TANGO;TANGO1;UNQ6077 C219 reactive peptide;C219-reactive peptide;OTTHUMP00000035650;OTTHUMP00000035767;melanoma inhibitory activity protein 3;transport and Golgi organization protein 1 protein-coding ENSG00000154305 24008 613455 VALIDATED 732144 MIA melanoma inhibitory activity 19 19 q13.2 45973140 45975235 + 41281082 41283398 + 737744;1580863;6480464 12485990 8661134;7923218;19521988;18616526;18494554;18477894;18181974;17661202;17599744;17348447;16331256;15760338;15547763;15489334;15386421;15340161;15208686;15201995;15057037;12665595;12477932;12230496;12014625;11991352;11331761;11157741;8550608;19807924;19852767;20514540;16341674;8889548;20164682;21277254;21487066;21658116;21540751;21858537;22446962 8190 M0QZM4;M0R0T9;M0R343;Q16674 ABBA01040789;AC020945;AC098779;AMYH01009808;BC005910;BM715936;BM856478;BQ681978;BT007044;BX280685;CH471126;CR541648;DV462488;NM_001202553;NM_006533;X75450;X84707 AAH05910;AAP35693;ADZ16074;CAA53203;CAA59195;CAG46449;EAW56997;EAW56998;EAW56999;NP_001189482;NP_006524;Q16674 Hs.646364 CD-RAP cartilage derived retinoic acid sensitive protein;melanoma inhibitory activity protein;melanoma-derived growth regulatory protein protein-coding ENSG00000261857 7076 03216 601340 VALIDATED 1314953 MGST3 microsomal glutathione S-transferase 3 This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011] 1 1 1 q23 138705621 138730025 + 163867074 163891481 + 165600110 165625373 + 1580863;6480464;6907045 16710414;9278457;19343046;19064610;17719568;15489334;12898215;12477932;10673221;8125298;16169070;19536175;20379614;21116278;17207965;22939629;18781797;20360068;21139048;21890473;21906983;19471022;19322201;21853274 4259 O14880;Q5VV87;Q5VV89 ABBA01047280;AF026977;AI591182;AK223012;AK312103;AL356441;AL451074;AMYH01001470;AY388493;BC000505;BC003034;BC005964;BI666647;CH471067;CR450359;DQ185045;NM_004528 AAB82609;AAH00505;AAH03034;AAH05964;AAQ81301;ABD14425;ADQ33187;ADZ15782;BAD96732;BAG35039;CAG29355;EAW90752;EAW90753;EAW90754;EAW90755;EAW90756;EAW90757;NP_004519;O14880 Hs.191734;Hs.732686 1753739;2115948;2136108 RH41830;SHGC-89234;STS-AA027186 GST-III OTTHUMP00000032567;OTTHUMP00000032568;OTTHUMP00000032599;OTTHUMP00000032600;OTTHUMP00000032601;OTTHUMP00000197144;microsomal GST-3;microsomal GST-III;microsomal glutathione S-transferase 3;microsomal glutathione S-transferase III APPROVED protein-coding 7064 05192 604564 REVIEWED 1349487 MIB2 mindbomb E3 ubiquitin protein ligase 2 1 1 1 p36.33 1016532 1030942 - 1540747 1555848 + 1550795 1565990 + 1331357;737633;1580863;6480464 12761501;12477932 17962190;17081983;16715130;16381901;15920166;15869411;15824097;15489336;15489334;14702039;14507647;11076863;16344560;19690564;21896478;21903422;21890473 142678 D6R9Q6;D6RAZ0;D6RDI1;D6RE96;D6RED3;D6RFJ2;D6RHY5;E9PD12;F2Z2L2;H0YAM8;J3QLE0;J3QR95;Q8N911 AB064367;AB074480;AB076691;AB076692;AB076693;AB097000;ABBA01016060;ABBA01016061;ABBA01016062;AK000655;AK091610;AK095914;AK096295;AK097106;AK098785;AK122751;AK122863;AK123400;AK128167;AK128553;AK293642;AK302757;AK309362;AL691432;AL834527;AMYH01000144;BC016490;BC035078;BC035109;BC037542;CH471183;DA391220;DA767833;DC402226;NM_001170686;NM_001170687;NM_001170688;NM_001170689;NM_080875;NR_033183 AAH16490;AAH37542;BAB82979;BAB92950;BAC00992;BAC00993;BAC00994;BAC03707;BAC04646;BAC04752;BAC04952;BAC05413;BAC77353;BAG53705;BAG53766;BAG54643;BAG57097;BAG63969;CAD39183;CAL37514;CAL38489;EAW56174;EAW56175;EAW56176;EAW56177;EAW56178;EAW56179;NP_001164157;NP_001164158;NP_001164159;NP_001164160;NP_543151;Q96AX9 Hs.135805;Hs.593430 1647597;1658802;1757827;2143645;2164690;5022200;5022578 A002R14;D1S1423;L18426;SHGC-146646;SHGC-74077;SHGC-74100;SHGC-74110 FLJ20648;FLJ39787;FLJ41406;ZZANK1;ZZZ5 E3 ubiquitin-protein ligase MIB2;OTTHUMP00000083363;OTTHUMP00000083364;OTTHUMP00000083365;OTTHUMP00000083366;OTTHUMP00000220661;OTTHUMP00000220662;OTTHUMP00000220663;OTTHUMP00000220665;OTTHUMP00000220666;OTTHUMP00000220675;mind bomb homolog 2;mindbomb homolog 2;novel zinc finger protein;novelzin;putative NF-kappa-B-activating protein 002N;skeletrophin;zinc finger ZZ type with ankyrin repeat domain protein 1 APPROVED protein-coding ENSG00000197530 30577 15905 611141 VALIDATED 1602850 MICALCL MICAL C-terminal like 11 11 11 p15.3 12433754 12506014 + 12265023 12337267 + 12308447 12380691 + 6480464 14702039;12110185;15694364;20379614 84953 E9PRG5;Q6ZW33 ABBA01061135;ABBA01061136;ABBA01061137;AC025300;AK027872;AK123671;AMYH01003394;BK000463;CH471064;NM_032867 AAI68365;BAB55422;BAC85674;DAA01342;EAW68527;NP_116256;Q6ZW33 Hs.128196 1678979 RH92025 Ebitein1;FLJ14966 ERK2-binding testicular protein 1;MICAL C-terminal-like protein;OTTHUMP00000230951;ebitein-1 protein-coding ENSG00000133808 25933 08610 612355 VALIDATED 1316242 MIB1 mindbomb E3 ubiquitin protein ligase 1 This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013] 18 18 q11.2 17575543 17704912 + 19321545 19450914 + 1580863;1334454;6480464;6484113 12530964 17324930;17003037;16857196;15489334;15048887;14702039;12477932;12351649;11812785;10718198;17390041;18029348;19710364;20018188;19690564;16196087;20720151;21875946;20360068;21903422;21985982;22184009;20639865;21956701;21987572;20972266;21139048;21890473;21906983;21963094;23000965;23314057;23615451;22053931;22505724;21896478;21948523;23478405 57534 Q9P2M3 AB037744;ABBA01022670;ABBA01022671;ABBA01022672;ABBA01022673;AC091038;AC103987;AF086463;AK027338;AK075157;AK091266;AL713705;AMYH01008876;AMYH01008877;AY147849;AY149908;BC022403;BC110581;BC110582;CH471088;CR749635;EF444995;HQ234313;NG_033272;NM_020774 AAH22403;AAI10582;AAI10583;AAN18023;AAN75493;ACA06016;BAA92561;BAC11439;BAG52320;CAD28502;CAH18429;EAX01132;NP_065825;Q86YT6 Hs.140903;Hs.658808 1672500;1675551;1677957;1690007;1778999;2121459;2141835;2152713;2170973;2172222;5019621 A005C25;D18S1306;G32226;RH36400;RH47428;RH65843;RH92942;RH93663;RH94015;SHGC-34898;SHGC-35703 DIP-1;DIP1;DKFZp686I0769;DKFZp761M1710;FLJ90676;LVNC7;MGC129659;MGC129660;MIB;ZZANK2;ZZZ6 DAPK-interacting protein 1;E3 ubiquitin-protein ligase MIB1;OTTHUMP00000162549;mind bomb homolog 1;mindbomb homolog 1;ubiquitin ligase mind bomb;ubiquitin ligase protein MIB1;zinc finger ZZ type with ankyrin repeat domain protein 2 APPROVED protein-coding ENSG00000101752 21086 06660 608677;615092 REVIEWED 1345713 MICA MHC class I polypeptide-related sequence A MICA encodes the higly polymorphic MHC (HLA) class I chain-related gene A. The protein product is expressed on the cell surface, although unlike canonical class I molecules does not seem to associate with beta-2-microglobulin. It is thought that MICA functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 6 6 p21.33 31479350 31491069 + 31367561 31383090 + 1580863;6480464 21257710;21426309;21852331;22323559;22524849;21388352;21499248;15140030;15089901;15089899;15086345;15077289;15051759;15029237;15018633;14752253;14730600;14702039;14679081;14675133;14662896;14630402;14588097;14551603;14530335;14517700;12963865;12941547;12918695;12918694;12915440;12902493;12894536;12878361;12854159;12714493;12691706;12653732;12622774;12590984;12569559;12559632;12542746;12538683;12507824;12492815;12477932;12466900;12414645;12392511;12392510;12384702;12373294;12370336;12242594;12190814;12170475;12170466;12115588;12074713;12068141;12022360;12021141;12021140;12021138;12021133;11975986;11918717;11916168;11881819;11862403;11862400;11862390;11841487;11839711;11797336;11796403;11737059;11696220;11696218;11600224;11556982;11508592;11491503;11465541;11409121;11407684;11390038;11390037;11380951;11323699;11239445;11194237;11169253;11169252;11169245;11118029;11110982;11024213;10894171;10777103;10703615;10380704;10380703;10369920;10369917;9770516;9486173;9331954;9177776;8995188;8976183;8876061;8824804;8781120;8613147;8125298;8022771;8022769;7927538;2715640;8901601;10426993;11491531;11485740;11830641;11224526;16750166;9497295;10359807;15995699;10426994;18676862;19594363;19508374;19409079;19405864;19392799;19364518;19363685;19328950;19317747;19280715;19272329;19200602;19184033;19143814;19120272;19066881;19046302;19000729;19000131;18987644;18981088;18957310;18951065;18799098;18791713;18784732;18728002;18718856;18685862;18588574;18578977;18390988;18365394;18365383;18361932;18354183;18348660;18332098;18312344;18287244;18282752;18202175;18158593;18057383;18056367;18023027;18001301;17948965;17911424;17625602;17586836;17570210;17559497;17545046;17523949;17511763;17495932;17389022;17389016;17388919;17350686;17221346;17202358;17130560;17102945;17003176;17003171;16951502;16948893;16923796;16893385;16883538;16784494;16776673;16767211;16720212;16702430;16698437;16698430;16679067;16671949;16634869;16585609;16568261;16547745;16537577;16417220;16386647;16379028;16216678;16184547;16178876;16168521;16151576;16133985;16116311;16101831;16101830;16094621;16091471;16061555;16002667;15952123;15728525;15699512;15699510;15699508;15652646;15640005;15603871;15522921;15381244;15304010;15304009;15272769;15192843;15150599;10746789;20369461;17565371;17584663;18394338;18782524;19193353;19332255;19353249;19539762;19553547;19667965;19691640;19783834;19786616;19793804;19820007;19826051;19851445;19895570;19949079;20045334;20097244;20152875;20153697;20237496;20352225;20492597;20533278;18070447;20428196;19781272;19785955;19016911;19913121;20569278;20587610;20628086;20631027;10323458;10331160;10363723;10367903;10691930;10752636;11053635;11181995;12074712;14574404;15104678;15489334;15896200;20478410;9396860;20933106;21061445;21702010;20460636;20670353;21042760;21155878;21044950;21221852;22168250;22678802;21168690;21179506;21262824;20881960;21051598;21653640;22589738;21091928;21477352;21554252;22170063;22227571;22415659;22841239;21744989;23482656;23539759;22835336;21810082;21857986;20354827;21605422;21712812;21506888;21518478;21600151;21644931;21762746;22006996;21935360;22032421;22100839;22133594;22150370;22182633;22222578;22301547;22992985;22215138;22370708;23024757;23001997;23417110;23449627;23181907;23291067;17170457;19449444;23721028 100507436 B0V1E9;B0V1F1;H0Y615;Q5JP35;Q5SS58;Q96QC4;Q9TQL1 AB015600;AB088108;AB103614;AB202108;AB506764;AB537165;ABBA01038074;AF097403;AF097404;AF097405;AF097406;AF106652;AF302792;AF303446;AF305055;AF305056;AJ249394;AJ250499;AJ250500;AJ250501;AJ250502;AJ250503;AJ250504;AJ250505;AJ250506;AJ250507;AJ250802;AJ250803;AJ250804;AJ250805;AJ250990;AJ250991;AJ271789;AJ295250;AJ563426;AJ580805;AJ580806;AK094237;AK225393;AK299135;AK310028;AL645933;AL662866;AL669854;AL845443;AMYH01016216;AY095537;AY204547;AY603357;AY750850;BA000025;BC016929;BX119958;CH471081;CR318637;CR847852;L14848;L29411;M24036;NM_000247;NM_001177519;NR_036523;NR_036524;U56940;U56941;U56942;U56943;U56944;U56945;U56946;U56947;U56948;U56949;U56950;U56951;U56952;U56953;U56954;U56955;U69622;U69623;U69624;U69625;U69626;U69627;U69628;U69629;U69630;U69631;U69964;U69965;U69966;U69967;U69968;U69969;U69970;U69971;U69972;U69973;U69974;U69975;U69976;U69977;X92841;Y16801;Y16802;Y16803;Y16804;Y16805;Y16806;Y16807;Y16808;Y16809;Y16810;Y16811;Y18110;Y18111;Y18112;Y18113;Y18114;Y18115;Y18116;Y18117;Y18118 AAA21718;AAA52662;AAA64611;AAB41060;AAB41061;AAB41062;AAB41063;AAB41064;AAB41065;AAB41066;AAB41067;AAB41068;AAB41069;AAB41070;AAB41071;AAB41072;AAB41073;AAB41074;AAB41075;AAB51778;AAB51779;AAB51780;AAB51781;AAB51782;AAB51783;AAB51784;AAB51785;AAB51786;AAB51787;AAB51788;AAB51789;AAB51790;AAB51791;AAB51792;AAB51793;AAB51794;AAB51795;AAB51796;AAB51797;AAB51798;AAB51799;AAB51800;AAB51801;AAD19604;AAD27006;AAD27007;AAD27008;AAD27009;AAG22082;AAG22083;AAG22086;AAG22087;AAH16929;AAM34484;AAO45822;AAU95072;AAV39504;BAA29034;BAB63308;BAB63309;BAC54940;BAE78633;BAF31275;BAG61187;BAH83534;BAI52964;CAA63427;CAA76393;CAA76394;CAA76395;CAA76396;CAA76397;CAA76398;CAA76399;CAA76400;CAA76401;CAA76402;CAA76403;CAA77029;CAA77030;CAA77031;CAA77032;CAA77033;CAA77034;CAA77035;CAA77036;CAA77037;CAB71317;CAC14280;CAC14281;CAC14282;CAC14283;CAC14284;CAC14285;CAC14286;CAC14287;CAC14288;CAC15380;CAC15381;CAC15382;CAC15383;CAC16142;CAC16143;CAC27561;CAC88121;CAD91415;CAE45581;CAE45582;EAX03392;EAX03393;EAX03394;EAX03395;EAX03396;EAX03397;NP_000238;NP_001170990;Q29983 Hs.130838 1648218;1776650;1786092;1786112;2106157;2106159;2106169;2117473;2153524;2182515;2189573;2189575;2189691;5021935;5022847;5037552;5118101 C1_2_BB;C1_2_C;C1_2_D;D6S1935;D6S2808;D8S2279;G64283;GJK050719600;MICA;RH17599;RH46617;RH46788;RH70942;SHGC-170012;SHGC-172535;STRMICA;STR_MICA FLJ36918;FLJ60820;MGC111087;MGC21250;MIC-A;PERB11.1 HLA class I antigen;MHC class I chain-related gene A protein;MHC class I chain-related protein A;MHC class I polypeptide-related sequence A;MIC-A;OTTHUMP00000029088;OTTHUMP00000044528;OTTHUMP00000165170;OTTHUMP00000165172;Stress inducible class I homolog APPROVED protein-coding ENSG00000204520 7090 600169 REVIEWED 1344876 MICC MHC class I polypeptide-related sequence C (pseudogene) 6 6 6 p22.1 31962932 31982938 + 30472720 30495120 + 30382490 30387543 + 8022771;21912425 100129192 ABBA01038042;AL662822;AL662873;AL844203;AMYH01016204;BX294158;BX927214;CR759832;CR759890;CR812479;NG_027534 1651202;2106171 D6S2925;RH35725 PERB11.3 APPROVED pseudo 7092 INFERRED 1344366 MICD MHC class I polypeptide-related sequence D (pseudogene) 6 6 6 p21.3 31536340 31541710 - 30046127 30051500 - 29938149 29943522 - 10557312;8022771;20593013 4279 AB023056;ABBA01038041;AF055066;AL645935;AL671277;AL845454;AMYH01016204;BX005091;BX927229;CR382333;CR388205;CR388220;CR759762;NG_015983 1732099;7184824 D6S510 PERB11.4 APPROVED pseudo 7093 INFERRED 1346954 MICE MHC class I polypeptide-related sequence E (pseudogene) 6 6 6 p21.3 31312663 31320313 - 29709234 29716880 - 29709234 29716880 - 10331161 4280 ABBA01038036;AF055066;AL645939;AL669813;AL844851;AMYH01016197;BX005428;BX927182;BX927250;CR753818;CR788234;NG_002916 1790871;2220090;7184079;7184130 D6S2707;D6S2864 PERB11.5;dJ377H14.7 APPROVED pseudo 7094 INFERRED 1604315 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 6 6 6 q21 110511849 110523786 - 109871958 109883883 - 109765265 109777190 - 6480464 11827972;17662518;17081983;15796781;15694364;15489334;14702039;14574404;12788069;12477932;12110185;11214971;10808124;8125298;19913121;20628086;21730291;22331357;21900206;21890473;21906983;21638339;20106972;22505724 64780 H0Y6Z4;Q5TED7;Q9HAA1 AB048948;ABBA01026126;AK021999;AK024500;AK025392;AK160384;AK225049;AK296284;AL109947;AL122098;AMYH01016583;AMYH01016584;BC009972;BC036514;BC042144;BC052983;CH471051;NM_001159291;NM_022765 AAH09972;AAH42144;AAH52983;BAB13949;BAB15124;BAB15790;BAB86289;BAD18727;BAH12301;CAB59266;EAW48339;EAW48340;EAW48341;EAW48342;EAW48343;EAW48344;EAW48345;NP_001152763;NP_073602;Q8TDZ2 Hs.33476 DKFZp434B1517;FLJ11937;FLJ21739;MICAL;MICAL-1;NICAL CasL interacting molecule;NEDD9 interacting protein with calponin homology and LIM domains;NEDD9-interacting protein with calponin homology and LIM domains;OTTHUMP00000016969;molecule interacting with CasL protein 1;protein-methionine sulfoxide oxidase MICAL1 APPROVED protein-coding ENSG00000135596 20619 06183 607129 VALIDATED 1352177 MICG MHC class I polypeptide-related sequence G (pseudogene) 6 6 6 p21.3 31383296 31383598 - 29888146 29888448 - 29780167 29780469 - 10557312 352967 ABBA01038036;AL645939;AL671561;AL844851;AMYH01016198;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002733 APPROVED pseudo 16802 INFERRED 1349529 MICF MHC class I polypeptide-related sequence F (pseudogene) 6 6 6 p21.3 31423766 31425637 - 29927943 29928242 - 29819964 29821829 - 10557312 352957 AB023057;ABBA01038036;AF055066;AL645929;AL671561;AMYH01016199;BX001005;BX247949;BX927141;CR388220;CT009517;NG_015984 APPROVED pseudo 16801 INFERRED 1602728 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 11 11 11 p15.3 12257370 12410639 + 12088714 12241908 + 12132138 12285332 + 6480464 16675569;15694364;15489334;14702039;12477932;12110185;9872452;9110174;8619474;20379614;23534349;22331357;21139048;21906983 9645 E9PJB0;E9PKI3;E9PL42;E9PNC3;E9PRE0;O94851 AB018293;AB110785;AB110786;ABBA01061137;ABBA01061138;AC025106;AC079329;AF052170;AK122821;AK127301;AK294845;AK302580;AK302893;AMYH01003393;AMYH01003394;BC015755;BC017104;BC044577;BC048206;BK000462;BX538021;BX641163;CH471064;NM_014632 AAH44577;BAA34470;BAD83656;BAD83657;BAG57951;BAG63835;BAH13835;CAD97967;CAE46072;DAA01341;EAW68528;EAW68529;EAW68530;EAW68531;NP_055447;O94851 Hs.501928 1691076;1712977;1720007;1731275;1737171;1737669;1755497;1771379;1771381;1774942;1782508;1858088;1858090;2150801;2152571 A001T08;D11S3035;D11S3273;D11S4060;D11S4288;D11S660;G19617;HSC05H082;RH120578;RH123981;RH78235;RH92815;SHGC-142358;SHGC-81234;WI-22148 DKFZp686H03148;DKFZp686H2469;KIAA0750;MICAL-2;MICAL2PV1;MICAL2PV2 OTTHUMP00000230856;OTTHUMP00000230857;flavoprotein oxidoreductase MICAL2;microtubule associated monoxygenase, calponin and LIM domain containing 2;molecule interacting with CasL protein 2;protein MICAL-2;protein-methionine sulfoxide oxidase MICAL2 APPROVED protein-coding ENSG00000133816 24693 10085 608881 PROVISIONAL 1603016 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 22 22 22 q11.21 1890073 2127001 - 16650415 16694766 - 18270415 18507325 - 6480464 15694364;15489334;15461802;15302935;15146197;14702039;12477932;12110185;11181995;10737800;10718198;10591208;10048485;17081983;16344560;22385522;20379614;22990118;21596566;20360068;22001757;21139048;23509613 57553 C9J922;E9PP85;J3KRP8;J3KSK6;J3KTB6;J3QLA3;J3QQT0;J3QR21;Q7RTP6 AB020626;AB037785;ABBA01001425;ABBA01001426;ABBA01001427;ABBA01001428;ABBA01001429;AC016026;AC016027;AK023678;AK025369;AK124853;AK126925;AK127487;AK289506;AK295978;AMYH01012439;AMYH01012440;BC006562;BC035213;BC046364;BC047315;BC064400;BC085009;BC157876;BC171887;BF928259;BK000464;BK000465;BU617485;BX647382;CH471193;CN425716;CR456364;CR976532;DA531335;DR731344;NM_001122731;NM_001136004;NM_015241 AAH06562;AAH85009;AAI57877;AAI71887;BAA74842;BAA92602;BAF82195;BAG10388;BAG58753;CAG30250;CAK54648;CAK54947;DAA01343;DAA01344;EAW57777;EAW57779;EAW57780;EAW57781;NP_001116203;NP_001129476;NP_056056;Q7RTP6 Hs.528024 1653943;1656111;1681756;1684303;1695870;1703240;1703684;1727859;1728567;1729185;1761297;1849481;2140368;2147475;2148482;2164418;2167287;2176176;5014039;5014051;5015619;5015861;5019633;5022578;5022651;5037552;5092760;7185938 A005C33;A005R08;A006A19;D10S16;D11S2921;D11S3114;D1S1423;D22S1584;D22S627;D8S2278;D8S2279;G32276;G32312;G63345;G63573;GDB:313731;RH77783;RH77815;RH80619;RH93600;SGC30622;SGC32325;SHGC-145298;SHGC-78815;SHGC-78836;STS-Z41052;stD22S181 KIAA0819;MGC189703;MICAL-3 OTTHUMP00000196146;OTTHUMP00000196147;OTTHUMP00000196148;flavoprotein oxidoreductase MICAL3;microtubule associated monoxygenase, calponin and LIM domain containing 3;molecule interacting with CasL protein 3;protein MICAL-3;protein-methionine sulfoxide oxidase MICAL3 APPROVED protein-coding ENSG00000243156 24694 608882 PROVISIONAL 1602200 MICALL1 MICAL-like 1 22 22 22 q13.1 22104063 22139744 + 36632292 36667972 + 38302155 38338465 + 6480464 15489334;15461802;15324660;15302935;14702039;12788069;12477932;12110185;12058051;11258795;10591208;19041431;19864458;19945174;21951725;21795389;21139048;19531213;22284051 85377 B0QY86;B0QY91;H0Y6J8;Q68D58;Q9UH45 AB051455;ABBA01055493;ABBA01055494;AJ496196;AK056603;AK127819;AL022311;AL833860;AL834373;AMYH01012757;AMYH01012758;BC001090;BC082243;BK000466;CA307559;CA432878;CB997694;CH471095;CR456437;CR749566;DB476014;DR004306;NM_033386 AAH01090;AAH82243;AAI42606;AAI43051;AAI46384;AAI48805;BAB33338;CAD38718;CAD39036;CAD42713;CAG30323;CAH18362;DAA01345;EAW60199;NP_203744;Q8N3F8 Hs.517610 1676756;1687385;1776623;5015619 D11S3114;RH28521;RH92865;SHGC-33005 DKFZp686M2226;FLJ45921;KIAA1668;MICAL-L1;MIRAB13 MICAL-like protein 1;OTTHUMP00000198206;molecule interacting with Rab13 protein-coding ENSG00000100139 29804 11363 VALIDATED 1605936 MICALL2 MICAL-like 2 7 7 7 p22.3 1440266 1466482 - 1440521 1465635 - 1473995 1499109 - 6480464 17891173;16525024;16344560;15489334;14702039;12975309;12477932;12110185;20360068 79778 D3YTD2;Q6UWK3;Q8IY33 AACC02000053;ABBA01039341;ABBA01039342;ABBA01039343;AC102953;AK027124;AK074068;AK091986;AK093249;AK123990;AK126808;AK127339;AL833704;AMYH01016958;AMYH01016959;AY358755;BC037988;BC039886;BK000467;CH236953;CH471144;DA945802;NM_182924 AAH37988;AAQ89115;ACE86775;ACE87461;BAB15667;BAB84894;BAC86702;CAD98087;DAA01346;EAW87200;EAW87201;NP_891554;Q8IY33 Hs.376617;Hs.663699 1846846 RH46485 FLJ23471;FLJ41996;FLJ44858;FLJ45410;JRAB;MGC46023;MICAL-L2 MICAL-like protein 2;OTTHUMP00000147553;junctional Rab13-binding protein protein-coding ENSG00000164877 29672 11364 VALIDATED 6481164 MID1IP1-AS1 MID1IP1 antisense RNA 1 100874211 AF241728 APPROVED miscrna 40932 1344142 MICU3 mitochondrial calcium uptake family, member 3 8 8 8 p22 15850940 15946342 + 16929119 17024518 + 16884747 16980148 + 737633;1580863;6480464 12477932 15489334;22064162;23409044 286097 H0YAN7;H0YB82;Q86XE3 ABBA01021587;AC079193;AC136305;AL833419;AMYH01018545;BC032868;BC045553;BI546243;BX953026;CH471080;DB548272;NM_181723 AAH32868;AAH45553;ACE86890;ACE87577;EAW63826;EAW63827;NP_859074;Q86XE3 Hs.403594 1786804;1786806 SHGC-170020;SHGC-170021 DKFZp313A0139;EFHA2 EF hand domain family A2;EF hand domain family, member A2;EF-hand domain family, member A2;EF-hand domain-containing family member A2;OTTHUMP00000122437;OTTHUMP00000225181;calcium uptake protein 3, mitochondrial;mitochondrial uptake family, member 3 APPROVED protein-coding ENSG00000155970 27820 13264 610633 VALIDATED 1354237 MICB MHC class I polypeptide-related sequence B This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. [provided by RefSeq, Jul 2008] 6 6 p21.3 31573945 31586880 + 31465855 31478901 + 1580863;6480464 10691930;21426309;11491531;9497295;11239445;12782710;11287116;12569559;19200602;19147769;19115949;18791713;18785505;18588574;18505429;18486757;18332098;18287244;17678727;17641203;17625602;17561376;17557375;17202358;17003176;16923796;16849432;16776673;16702430;16698444;16698441;16679067;16568261;16101831;16101830;15967992;15640005;15304009;15304008;15192843;15191526;15146197;14662896;12902493;12714493;12682252;12594848;12538683;12477932;12466900;12392511;12384702;12242594;12133964;12022360;11881819;11862397;11858820;11169252;10894171;10746790;10359807;9770516;9694358;9321430;9271635;8995188;8952966;8901601;8889548;8824804;8575823;8022771;10047540;7927538;20428196;17565371;17584663;18394338;19553547;19662431;19691640;19851445;19949079;21477352;20138739;20662065;21042760;22609444;22939629;21554252;22415659;22915757;21744989;21605422;22001756;21518478;21762746;21906983;21857986;22184268;22227571;21946350;22286212;22301547;22399527;19322201;22221182;21963094;23001997;23128233;23291067 4277 A2AC57;B0UZ11;B2RAK2;F5H7Q8;Q5RIY5;Q861E6;Q9MY18 AB003609;AB003610;AB003611;AB003612;AB003613;AB003614;AB003615;AB003616;AB003617;AB003618;AB088107;AB202111;ABBA01038078;AF021221;AF021222;AF021223;AF021224;AF021225;AF021226;AJ251156;AJ251158;AJ251160;AJ563706;AJ606906;AJ606907;AJ606908;AJ606909;AJ606910;AJ606911;AJ606912;AJ606913;AJ606914;AJ606915;AJ606916;AJ606917;AJ606918;AJ606919;AJ606920;AJ606921;AJ606922;AJ606923;AJ606927;AJ606928;AJ606929;AJ606930;AJ606931;AK291927;AK300791;AK303655;AK314228;AL662866;AL663061;AMYH01016216;AMYH01016217;AY885251;BA000025;BC044218;BQ216247;BU684700;BX001040;BX005439;BX927320;CH471081;CN389975;CR753820;CR753864;CR788288;DC427936;GU235997;NG_021405;NM_005931;U65416;U69978;U95729;U95730;U95731;U95732;U95733;U95734;X91625 AAB42011;AAB51802;AAB71642;AAB71643;AAB71644;AAB71645;AAB71646;AAB71647;AAC39846;AAC39847;AAC39848;AAC39849;AAC39850;AAC39851;AAH44218;ADA68470;BAA23476;BAA23477;BAA23478;BAA23479;BAA23480;BAA23481;BAA23482;BAA23483;BAA23484;BAA23485;BAB63307;BAC54939;BAE78634;BAF84616;BAG36899;BAG62451;BAH14007;CAA62823;CAB72097;CAB72098;CAB72101;CAD91554;CAE54932;CAE54933;CAE54934;CAE54935;CAE54936;CAE54937;CAE54938;CAE54939;CAE54940;CAE54941;CAE54942;CAE54943;CAE54944;CAE54945;CAE54946;CAE54947;CAE54948;CAE54949;CAE54953;CAE54954;CAE54955;CAE54956;CAE54957;EAX03402;EAX03403;NP_005922;Q29980 Hs.731446 1790807;2106173;2108825;2124998;2149283;2189571;5022578;5095141;7184109 AluyMICB_503(no_Alu);C1_2_A;D1S1423;D6S2672;D6S2793;MICB_1889.2;STS-U65416;STS-X91625 PERB11.2 MHC class I chain-related protein B;MHC class I mic-B antigen;MHC class I polypeptide-related sequence B;MHC class I-like molecule PERB11.2-IMX;MIC-B;OTTHUMP00000029089;OTTHUMP00000165190;stress inducible class I homolog APPROVED protein-coding ENSG00000204516 7091 03894 602436 REVIEWED 1353540 MICU1 mitochondrial calcium uptake 1 This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013] 10 10 10 q22.1 67411407 67671032 - 73797104 74055905 - 74127084 74385949 - 1302558;6480464 9806765 16344560;14702039;12477932;11230166;8125298;21685886;21685888;16385451;19615732;19919870;20877624;20693986;22904319;21139048;21890473;21832049;23101630 10367 E9PQV6;F6XEV2;H9KVB8;Q9H9N6 ABBA01020351;ABBA01020352;ABBA01020353;ABBA01020354;AC091769;AK022697;AK023318;AK225298;AK225695;AK296086;AK298347;AL117423;AL356009;AL513185;AMYH01002823;AMYH01002824;BC004190;BC004216;BC016641;BU627477;CH471083;DB030067;NG_033179;NM_001195518;NM_001195519;NM_006077;Y17711 AAH04190;AAH04216;AAH16641;ABM82013;ABW03344;BAB14187;BAG51182;BAG58841;BAG60593;CAA76830;CAB55915;EAW54457;EAW54458;EAW54459;NP_001182447;NP_001182448;NP_006068;Q9BPX6 Hs.524367 1665123;1686318;1690270;1693724;1726529;1727813;1781916;2118657;2137845;2145583;2172897 127XE9;G62645;G63172;RH11031;RH44916;RH80361;RH92364;SHGC-111140;SHGC-58644;STS-T80629;WI-16794 CALC;CBARA1;DKFZp564C246;EFHA3;FLJ12684 OTTHUMP00000019787;OTTHUMP00000019788;ara CALC;atopy related autoantigen;atopy-related autoantigen CALC;calcium binding atopy-related autoantigen 1;calcium uptake protein 1, mitochondrial;calcium-binding atopy-related autoantigen 1;mitochondrial calcium uptake 1 APPROVED protein-coding ENSG00000107745 1530 05471 605084 REVIEWED 1315438 MIEN1 migration and invasion enhancer 1 17 17 17 q12 34545142 34546521 - 35138935 35140314 - 37885409 37886788 - 737633;6480464 12477932 19124506;17503775;17121940;17117180;15489334;15010812;12739007;21628459;19503095;17207965;21068479;20628393;21347235;21483102;23284973 84299 J3KTI2;Q9BRT3 AA010615;ABBA01031858;AC079199;AF490253;AJ308025;AJ308026;AL554581;AMYH01008376;AY508814;BC006006;BC106016;BX646129;CH471152;CS566126;JA284279;NG_007503;NM_032339 AAH06006;AAO85461;AAR92035;ADQ33214;CAN37613;CCA65398;EAW60598;EAW60599;NP_115715;Q9BRT3 Hs.333526 1684602;1778641 D17S2147;RH79751 C17orf37;C35;MGC14832;ORB3;RDX12;XTP4 HBV X-transactivated gene 4 protein;HBV XAg-transactivated protein 4;OTTHUMP00000164348;hypothetical protein LOC84299;migration and invasion enhancer 1;protein C17orf37 APPROVED protein-coding 28230 12681 611802 VALIDATED 1320070 MIDN midnolin 19 19 19 p13.3 1182784 1193375 + 1199552 1210142 + 1248552 1259142 + 6480464 16303743;12477932;11441184;10974535;21900206;21906983;19322201;22505724 90007 K7EN89;K7END3;Q504T8 AA421908;ABBA01002634;ABBA01002635;ABBA01002636;AC004221;AK075506;AL512725;AMYH01009236;AMYH01009237;AMYH01009238;BC015089;BC060848;BC094778;BM966744;CH471139;HI574022;NM_177401 AAH15089;AAH94778;CBX47500;EAW69527;EAW69528;EAW69529;NP_796375;Q504T8 Hs.465529 1681596;2219926 MIDN__6314;RH80863 DKFZp547M072 midbrain nucleolar protein;midnolin protein-coding ENSG00000167470 16298 16230 606700 VALIDATED 1353196 MICU2 mitochondrial calcium uptake 2 13 13 13 q12.11 3128918 3240426 - 20964839 21076309 - 22066828 22178355 - 1580863;6480464 21145461;15489334;15057823;14702039;12826745;12477932;11124993;9205841;20379614;23000965;20877624;21139048;21890473;21906983;23409044 221154 Q8IYU8 ABBA01068607;ABBA01068608;AK057745;AK091907;AL136219;AL138680;AMYH01004959;BC031089;BC034965;BQ438851;CH471075;NM_152726 AAH31089;AAH34965;ADZ15331;ADZ15367;BAC03769;EAX08312;EAX08313;NP_689939;Q8IYU8 Hs.412103 1689075;1691160;1716573;1724407;1736334;1777316;2111584;2173234;7187390 D13S1534;D13S837E;D8S1675;RH121631;RH122365;RH68982;RH94193;SHGC-31003;SHGC-37580 1110008L20Rik;EFHA1;FLJ25016;FLJ34588 EF hand domain family A1;EF-hand domain family, member A1;EF-hand domain-containing family member A1;OTTHUMP00000070404;Smhs2 homolog;calcium uptake protein 2, mitochondrial APPROVED protein-coding ENSG00000165487 31830 16852 610632 VALIDATED 1316379 MIER2 mesoderm induction early response 1, family member 2 19 19 19 p13.3 467724 506032 + 256575 295791 - 305575 344791 - 737633;6480464 12477932 10574462;21258344;23144319 54531 Q8N344 AB033019;ABBA01002553;ABBA01002554;AC016588;AMYH01009179;AMYH01009180;BC028203;NM_017550 AAH28203;BAA86507;NP_060020;Q8N344 Hs.101891 1757689;5022578 D1S1423;SHGC-146248 KIAA1193;Mi-er2 mesoderm induction early response protein 2 protein-coding ENSG00000105556 29210 11130 PROVISIONAL 1602493 MID2 midline 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009] X X X q22.3 107540045 107645826 + 106956116 107057077 + 107069084 107174867 + 6480464 10400986;16713569;16283679;16189514;15772651;15489334;15249690;14702039;12477932;11806752;11331580;10644436;10400985;18029348;19690564;11685209;16434393;21143188 11043 A6PVI4;Q9UJV3 ABBA01035940;ABBA01035941;ABBA01035942;ABBA01035943;ABBA01035944;ABBA01035945;ABBA01035946;ABBA01035947;ABBA01035948;ABBA01035949;ABBA01035950;ABBA01035951;ABBA01035952;ABBA01035953;ABBA01035954;ABBA01035955;AF196481;AK095034;AK123807;AL034399;AL109946;AMYH01022834;AY625004;BC017707;BC035557;BC058011;BC070370;BT006663;CH471120;DN997921;NG_011907;NM_012216;NM_052817;Y18880 AAF07341;AAH17707;AAP35309;AAT48105;ADZ15509;CAB56154;EAX02701;EAX02702;EAX02703;NP_036348;NP_438112;Q9UJV3 Hs.12256 1702352;1702440;1791015;1849065;1849739;1854593;2118052;2176006;2181419;5095074 BKT11;DXS6739;DXS7844;DXS7891;L42705;MID2;RH18475;RH36054;SGC32037;WI-14337 FLJ37715;FLJ41813;FXY2;RNF60;TRIM1 OTTHUMP00000023816;OTTHUMP00000023817;RING finger protein 60;midin 2;midin-2;midline defect 2;midline-2;probable E3 ubiquitin-protein ligase MID2;tripartite motif protein 1;tripartite motif-containing protein 1 APPROVED protein-coding 7096 02191 300204 REVIEWED 1344749 MID1IP1 MID1 interacting protein 1 X X X p11.4 42798311 42803411 + 38545629 38550729 + 38660685 38665785 + 1580863;6480464 16344560;16189514;15489334;15070402;14702039;12477932;20457939;17207965;21163940;21900206;21139048;21906983;22505724 58526 Q9NPA3 ABBA01046994;AF050158;AF241728;AJ272057;AK001248;AMYH01022214;AW086438;BC008908;BC019332;BK001260;CH471141;CR457220;DA138791;NM_001098790;NM_001098791;NM_021242 AAH08908;AAH19332;ADQ31584;BAA91580;CAB89113;CAG33501;DAA01482;EAW59435;EAW59436;NP_001092260;NP_001092261;NP_067065;Q9NPA3 Hs.522605 1701772 DXS1116E FLJ10386;G12-like;MIG12;S14R;STRAIT11499;THRSPL MID1 interacting G12-like protein;MID1 interacting protein 1 (gastrulation specific G12-like);OTTHUMP00000025759;OTTHUMP00000025760;gastrulation specific G12 homolog;gastrulation-specific G12-like protein;mid1-interacting G12-like protein;mid1-interacting protein 1;spot 14-R;spot 14-related protein APPROVED protein-coding ENSG00000165175 20715 06732 VALIDATED 732275 MID1 midline 1 (Opitz/BBB syndrome) The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010] X X p22 10373596 10761730 - 10413350 10851809 - 1580863;6480464;6907045;7240710 11806752;10077590;9354791;19049519;18949047;18697196;18360914;18220417;18172692;18005432;17672918;17428496;17221865;17081983;17043407;16529770;16498413;16378742;16344560;15558842;15489334;15057556;12833403;12798296;12545276;12477932;12411602;12408967;11371618;11331580;11030761;10400985;9722948;9718340;9425238;7493033;11685209;20092282;15070402;17438131;19549727;22613722;20301502;21296087;22939629;21555591;21326312;19818709;21454489;21903422;21930711;21890473;16434393;19322201;21143188;22194938;23334847;22493164;23443539 4281 C9J453;C9JZJ7;O15344 ABBA01070832;ABBA01070833;ABBA01070834;ABBA01070835;ABBA01070836;ABBA01070837;ABBA01070838;ABBA01070839;ABBA01070840;ABBA01070841;ABBA01070842;ABBA01070843;ABBA01070844;ABBA01070845;ABBA01070846;ABBA01070847;ABBA01070848;ABBA01070849;ABBA01070850;ABBA01070851;ABBA01070852;ABBA01070853;ABBA01070854;ABBA01070855;ABBA01070856;ABBA01070857;ABBA01070858;ABBA01070859;ABBA01070860;ABBA01070861;ABBA01070862;ABBA01070863;AC002349;AC008008;AC117406;AF035360;AF041206;AF041208;AF041210;AF230976;AF230977;AF269101;AI371111;AK025187;AK226104;AK291215;AK297205;AK299061;AK315095;AMYH01022075;AMYH01022076;AY112900;AY112901;AY112903;AY539962;AY539963;AY539964;AY539967;AY539969;AY539970;AY539971;AY539972;AY539973;AY539974;AY539976;AY539977;AY539978;AY539979;AY539980;AY539981;AY539982;AY539983;AY539984;AY539985;AY539986;AY539987;AY539988;AY539989;AY539990;AY539991;AY539993;AY539994;AY539995;AY539996;AY539997;AY539998;AY539999;AY540000;AY540001;AY540002;AY540003;AY540004;AY540005;AY540007;AY540008;AY540009;AY540010;AY540011;AY540012;AY540013;AY540014;AY540015;AY540016;AY540017;AY540018;AY540020;AY540021;AY540022;AY540023;BC053626;CH471074;DA435613;DA856308;DC309977;DC369426;EF217423;EF217424;EF217425;EF217426;EF532594;EF532595;EF532596;NG_008197;NM_000381;NM_001098624;NM_001193277;NM_001193278;NM_001193279;NM_001193280;NM_001193281;NM_033289;NM_033290;U96409;Y13667 AAB99951;AAC32998;AAC33000;AAC33002;AAG33130;AAG50191;AAG50192;AAH53626;ABZ92039;BAF83904;BAG37559;BAG59690;BAH12942;CAA74018;EAW98779;EAW98780;EAW98781;NP_000372;NP_001092094;NP_001180206;NP_001180207;NP_001180208;NP_001180209;NP_001180210;NP_150631;NP_150632;O15344 Hs.27695;Hs.689953 1654605;1655304;1662782;1663590;1671456;1679411;1693968;1693986;1693988;1693992;1694010;1694012;1694024;1694030;1694032;1694034;1694036;1694038;1694046;1694048;1694050;1694054;1694060;1702262;1702274;1702748;1704242;1710894;1714445;1778277;1792720;2109515;2133601;2141247;2147057;5016027 A004G38;AF003639;AF003649;AF003650;AF003652;AF003662;AF003663;AF003670;AF003673;AF003674;AF003675;AF003676;AF003677;AF003682;AF003683;AF003684;AF003686;AF003689;DXS1438;DXS7713;DXS7916;HSC1ZH102;MID1;MID1__6312;PMC15848P1;RH120215;RH18198;RH65583;RH65878;RH67856;RH99148;SHGC-36657;SHGC-83251;SHGC-84226;STS-AA026423;UniSTS:99542 BBBG1;FLJ57031;FLJ58683;FLJ76288;FXY;GBBB1;MIDIN;OGS1;OS;OSX;RNF59;TRIM18;XPRF;ZNFXY OTTHUMP00000022896;OTTHUMP00000022898;OTTHUMP00000022899;OTTHUMP00000022900;OTTHUMP00000022901;OTTHUMP00000022902;RING finger protein 59;midline 1;midline 1 RING finger protein;midline-1;putative transcription factor XPRF;tripartite motif protein TRIM18;tripartite motif-containing protein 18;zinc finger on X and Y, mouse, homolog of APPROVED protein-coding ENSG00000101871 7095 02047 300000;300552 REVIEWED 2299990 MIMT1 MER1 repeat containing imprinted transcript 1 (non-protein coding) 19 19 q13.43 54394357 54402006 + 57352270 57359922 + 17509818;20801769 100073347 ABBA01020829;AC004792;AC006115;AMYH01010022;EF110915;NR_024059 Hs.467337 1669641;1849624;2164358;5093906 A009Y38;G32993;RH35916;SGC35094 LINC00067;MIM1;NCRNA00067 miscrna ENSG00000268654 33464 PREDICTED 1606529 MIF4GD MIF4G domain containing This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 17 17 17 q25.1 69854657 69859655 - 70773904 70778898 - 73262309 73267373 - 6480464 16189514;18025107;16713569;15231747;12477932;22532700;17577209;22939629;23286197;20309963 57409 A9UHW6;J3KSB8;J3KSU6;J3QKW3;J3QLD1;J3QLJ5;J3QLN4;J3QRZ6 ABBA01028806;AC022211;AF225422;AK300711;AMYH01008632;AMYH01008633;BC033759;BI752882;BU190758;BX404175;CA488406;CH471099;NM_001242498;NM_001242500;NM_001242501;NM_020679 A9UHW6;AAG09724;AAH33759;ABM81741;ABM84897;BAG62389;EAW89263;EAW89264;EAW89265;EAW89266;NP_001229427;NP_001229429;NP_001229430;NP_065730 Hs.325631 1739883;2154188;5024543 D17S1769;D1S3690;RH47314 AD023;MGC45027;MIFD;SLIP1 MIF4G domain-containing protein;SLBP (stem loop binding protein)-interacting protein 1;SLBP-interacting protein 1;hSLIP1 APPROVED protein-coding ENSG00000125457 24030 10629 612072 REVIEWED 1605562 MIER3 mesoderm induction early response 1, family member 3 5 5 5 q11.2 53169638 53202174 - 56251186 56283711 - 56215429 56247954 - 6480464 16381901;16344560;15489336;14702039;12477932;11230166;11076863;22993404 166968 A8MQD4;C9JXP7;H7C1J9;Q7Z3K6 ABBA01015768;AC008937;AC016644;AK002183;AK093273;AK299285;AMYH01015098;BC013936;BC041348;BX537798;BX640907;BX647359;BX648294;CH471123;CR749246;CR749805;DB136129;NM_152622 AAH41348;ABZ92415;ACE86675;ACE87360;BAC04117;BAG61301;CAD97846;CAE45951;CAH18102;CAH18665;CAI56710;CAL38471;EAW54959;EAW54960;NP_689835;Q7Z3K6 Hs.657594 1799826;1800676;1800954;1800994;1801950;1802322;1803372;1803620;1805032;1808686;1809198;1810650;1811338;1815260;1816860;1817336;1817436;1818182;1819276;1821884;1823460;1823718;1823894;1825876;1827832;1830322;1831948;1832596;1834128;1834130;1834696;1840914;1842538;1843552;1845038;1845670;1846164;1846392;1915306;1915308;1915310;1915312;1915314;1915316;1915318;1915320;1915322;1915324;1915326;1915328;1915330;1915332;1915334;1915336;1915338;1915340;1915342;1915344;1915346;1915348;1915350;1915352;1915354;1915356;1915358;1915360;1915362;1915364;1915366;1915368;1915370;1915372;1915374;1915376;1915378;1915380;1915382;1915384;1915386;1915388;1915390;1915392;1915394;1915396;1915398;1915400;1915402;1915404;1915406;1915408;1915410;1915412;1915414;1915416;1915418;1915420;1915422;1915424;1915426;1915428;1915430;1915432;1915434;1915436;1915438;1915440;1915442;1915444;1915446;1915448;1915450;1915452;1915454;1915456;1915458;1915460;1915462;1915464;1915466;1915468;1915470;1915472;1915474;1915476;1915478;1915480;1915482;1915484;1915486;1915488;1915490;1915492;1915494;1915496;1915498;1915500;1915502;1915504;1915506;1915508;1915510;1915512;1915514;1915516;1915518;1915520;1915522;1915524;1915526;1915528;1915530;1915532;1915534;1915536;1915538;1915540;1915542;1915544;1915546;1915548;1915550;1915552;1915554;1915556;1915558;1915560;1915562;1915564;1915566;1915568;1915570;1915572;1915574;1915576;1915578;1915580;1915582;1915584;1915586;1915588;1915590;1915592;1915594;1915596;1915598;1915600;1915602;1915604;1915606;1915608;1915610;1915612;1915614;2205958;2205960;2205962;2205964;2205966;2205968;2205970;2205972;2205974;2205976;2205978;2205980;2205982;2205984;2205986;2205988;2205990;2205992;2205994;2205996;2205998;2206000;2206002;2206004;2206006;2206008;5095024 ECD00767;ECD01199;ECD01342;ECD01363;ECD01856;ECD02045;ECD02583;ECD02716;ECD03457;ECD05325;ECD05589;ECD06319;ECD06667;ECD08666;ECD09476;ECD09718;ECD09768;ECD10148;ECD10705;ECD12028;ECD12821;ECD12951;ECD13041;ECD14046;ECD15039;ECD16295;ECD17112;ECD17438;ECD18212;ECD18213;ECD18496;ECD21650;ECD22476;ECD22985;ECD23736;ECD24053;ECD24302;ECD24416;MIER3;REN28463;REN28464;REN28465;REN28466;REN28467;REN28468;REN28469;REN28470;REN28471;REN28472;REN28473;REN28474;REN28475;REN28476;REN28477;REN28478;REN28479;REN28480;REN28481;REN28482;REN28483;REN28484;REN28485;REN28486;REN28487;REN28488;REN28489;REN28490;REN28491;REN28492;REN28493;REN28494;REN28495;REN28496;REN28497;REN28498;REN28499;REN28500;REN28501;REN28502;REN28503;REN28504;REN28505;REN28506;REN28507;REN28508;REN28509;REN28510;REN28511;REN28512;REN28513;REN28514;REN28515;REN28516;REN28517;REN28518;REN28519;REN28520;REN28521;REN28522;REN28523;REN28524;REN28525;REN28526;REN28527;REN28528;REN28529;REN28530;REN28531;REN28532;REN28533;REN28534;REN28535;REN28536;REN28537;REN28538;REN28539;REN28540;REN28541;REN28542;REN28543;REN28544;REN28545;REN28546;REN28547;REN28548;REN28549;REN28550;REN28551;REN28552;REN28553;REN28554;REN28555;REN28556;REN28557;REN28558;REN28559;REN28560;REN28561;REN28562;REN28563;REN28564;REN28565;REN28566;REN28567;REN28568;REN28569;REN28570;REN28571;REN28572;REN28573;REN28574;REN28575;REN28576;REN28577;REN28578;REN28579;REN28580;REN28581;REN28582;REN28583;REN28584;REN28585;REN28586;REN28587;REN28588;REN28589;REN28590;REN28591;REN28592;REN28593;REN28594;REN28595;REN28596;REN28597;REN28598;REN28599;REN28600;REN28601;REN28602;REN28603;REN28604;REN28605;REN28606;REN28607;REN28608;REN28609;REN28610;REN28611;REN28612;REN28613;REN28614;REN28615;REN28616;REN28617;stSG625181;stSG625182;stSG625183;stSG625184;stSG625185;stSG625186;stSG625187;stSG625188;stSG625189;stSG625190;stSG625191;stSG625192;stSG625193;stSG625194;stSG625195;stSG625196;stSG625197;stSG625198;stSG625199;stSG625200;stSG625201;stSG625202;stSG625203;stSG625204;stSG625205;stSG625207 DKFZp686L09111;DKFZp781G1119;DKFZp781I1119;FLJ35954 OTTHUMP00000065912;OTTHUMP00000065913;OTTHUMP00000065914;OTTHUMP00000203418;mesoderm induction early response protein 3;mi-er3 protein-coding ENSG00000155545 26678 08199 VALIDATED 1605249 MILR1 mast cell immunoglobulin-like receptor 1 17 17 17 q23.3 56915130 56934622 + 59875702 59895222 + 62461567 62464760 + 6480464 12477932;20526344 284021 Q7Z6M3 AB542950;AB542951;ABBA01035299;AC009994;AC138744;AC234063;AK300768;AMYH01008556;AMYH01008557;AMYH01008558;AMYH01008559;AMYH01008560;BC018972;BC053534;BC130406;BC136594;BC144272;BE296352;CD687595;CS255953;HI968228;NM_001085423 AAH53534;AAI30407;AAI36595;AAI44273;BAG62433;BAJ08251;BAJ08252;CAJ75916;CBY88425;NP_001078892;Q7Z6M3 Hs.631749 5022578;5037552 D1S1423;D8S2279 Allergin-1;C17orf60;MCA-32;MCA32;MGC163278 ALLERGIN-1L;ALLERGIN-1S1;allergin-1;allergy inhibitory receptor 1;mast cell antigen 32;probable mast cell antigen 32 homolog APPROVED protein-coding ENSG00000271605 27570 VALIDATED 1602214 MIIP migration and invasion inhibitory protein This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011] 1 1 1 p36.22 11193177 11205771 + 12002099 12014693 + 12079299 12092106 + 6480464 15867349;14702039;14617774;12477932;17207965;19773279;20008322;20103646;20418911;22321011 60672 C9J282;Q5JXC2 ABBA01003068;ABBA01003069;ABBA01003070;AK022500;AK024020;AK095928;AL096840;AMYH01000261;AW196459;BC008068;BG536799;BI828925;CH471130;FJ618905;NG_030022;NM_021933 AAH08068;ACM90320;ADQ32288;BAB14062;BAB14781;EAW71729;NP_068752;Q5JXC2 Hs.8595 2180959 SHGC-74239 FLJ12438;FLJ38609;IIP45;RP5-1077B9.4 IGFBP-2-Binding Protein;IGFBP2-binding protein;OTTHUMP00000002537;invasion inhibitory protein 45;invasion-inhibitory protein 45;migration and invasion-inhibitory protein APPROVED protein-coding ENSG00000116691 25715 07768 608772 REVIEWED 7243405 MINOS1-NBL1 MINOS1-NBL1 readthrough This locus represents naturally occurring read-through transcription between the neighboring chromosome 1 open reading frame 151 (GeneID 440574) and neuroblastoma suppressor of tumorigenicity 1 (GeneID 4681) genes on chromosome 1. The read-through transcripts produce at least two proteins, each of which share identity with proteins translated from the downstream neuroblastoma suppressor of tumorigenicity 1 locus. [provided by RefSeq, Feb 2011] 20967262 100532736 P41271 ABBA01059762;ABBA01059763;ABBA01059764;ABBA01059765;ABBA01059766;AK289456;AL031727;AMYH01000316;AMYH01000317;FY212253;NM_001204088;NM_001204089 BAF82145;NP_001191017;NP_001191018 Hs.466662;Hs.654502 1734500;1740599;2154034;2157218 D1S1733E;D1S1764E;RH68234;RH68284 C1orf151-NBL1 C1orf151-NBL1 read-through protein protein-coding ENSG00000270136 48338 VALIDATED 6484652 MINOS1P2 mitochondrial inner membrane organizing system 1 pseudogene 2 17 q24.1 62743153 62743658 - 100289489 ABBA01035283;AC132812;AMYH01008562;NG_022912 pseudo 44092 INFERRED 6484653 MINOS1P3 mitochondrial inner membrane organizing system 1 pseudogene 3 3 27256053 27256580 - 100462954 ABBA01025005;AC093555;AMYH01013045;NG_022915 pseudo 44093 INFERRED 6484650 MINOS1P4 mitochondrial inner membrane organizing system 1 pseudogene 4 4 q 79300344 79300812 + 9847074 100462957 ABBA01063381;AC093886;AMYH01014329;NG_022916 pseudo 44094 INFERRED 1605649 MIER1 mesoderm induction early response 1, transcriptional regulator This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013] 1 1 1 p31.3 65680527 65744235 + 67163230 67226890 + 67390578 67454302 + 6480464 12761501;18665173;17081983;16710414;16565220;15489334;15302935;15117948;14702039;12482978;12477932;12242014;10997877;9813250;18029348;18721470;21832049;22939629;21258344;21139048;21890473;21906983;19322201;22384264;23667531;23752268 57708 Q5TAD1;Q8WWG2 AB046830;ABBA01074523;ABBA01074524;ABBA01074525;AF515446;AF515447;AF515448;AK302061;AK307717;AL139216;AL500525;AL831987;AMYH01000688;AY124186;AY124187;AY124188;AY124189;AY124190;AY124191;AY124192;AY124193;AY124194;BC017423;BC066898;BC108726;BC125217;BC125218;BM987758;CH471059;CR627441;NG_029847;NM_001077700;NM_001077701;NM_001077702;NM_001077703;NM_001077704;NM_001146110;NM_001146111;NM_001146112;NM_001146113;NM_001278215;NM_020948 AAH17423;AAH66898;AAI08727;AAI25218;AAI25219;AAM76040;AAM76041;AAM76042;AAM97499;AAM97500;AAM97501;AAM97502;AAM97503;AAM97504;AAM97505;AAM97506;AAM97507;BAB13436;BAG63451;CAD89921;CAH10526;EAX06505;EAX06506;EAX06507;EAX06508;EAX06509;EAX06510;EAX06511;EAX06512;NP_001071168;NP_001071169;NP_001071170;NP_001071171;NP_001071172;NP_001139582;NP_001139583;NP_001139584;NP_001139585;NP_001265144;NP_065999;Q8N108 Hs.605432 1687131;1776495;1787650;2118088;2128518;2164227;2168188;5017587 D1S1897E;MIER1;RH70050;SHGC-156091;SHGC-53361;SHGC-74961;SHGC-74968;SHGC-74969 DKFZp781G0451;ER1;KIAA1610;MGC131940;MGC150640;MGC150641;MI-ER1;RP5-944N15.1;hMI-ER1 OTTHUMP00000010782;OTTHUMP00000010783;OTTHUMP00000010960;OTTHUMP00000010961;OTTHUMP00000010962;OTTHUMP00000010963;early response 1;mesoderm induction early response 1 (MI-ER1);mesoderm induction early response 1 homolog;mesoderm induction early response protein 1 APPROVED protein-coding ENSG00000198160 29657 11362 REVIEWED 6483884 MINOS1P1 mitochondrial inner membrane organizing system 1 pseudogene 1 13 q13.1 33070343 33072629 - 8812419;8889548 100462953 ABBA01010143;AL049782;AL353665;AMYH01005021;BM664083;NR_051980;U50530 Hs.687692;Hs.737108 CG012;N4BP2L2-IT;N4BP2L2-IT1;N4BP2L2IT1 APPROVED pseudo 25036 VALIDATED 734203 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008] 22 22 q11.23 22566565 22567409 + 24236565 24237409 + 1580863;1641954;1642000;1642002;1641950;1641957;1641991;1641993;1642006;1642009;1642011;1641953;1641949;1641978;1641983;1641989;1642001;1642003;1642007;1642012;1641951;1641955;1641979;1641984;1641985;1641997;727512;1642008;1642013;4891022;4890977;4891007;4891010;4891014;4891035;4891006;4891009;4891013;4891015;4890972;4891052;4891058;4890974;4891012;4891004;4891023;4891045;4890973;4891017;4891043;4891053;4891056;4890976;4891059;4891046;4891005;6480464;6907045;7240710;5131286 15286457;14706927;12853844;16247506;9158105;15879312;15276025;11870869;11126199;10780884;15472203;17435771;17565848;16601957;15922484;14625478;12704210;11798463;10765927;15790730;12552367;17324399;16571782;16455830;15067555;12612911;11589847;10617911;12576459;19066630;18097062;18055556;17295350;17373669;18618071;18074864;17381395;17277045;20626060;16186482;19346297;19799867;17585860;20439102;9700137;15053202;20367970;16574946;9637721;16179637;15922619;19131653;14962818;19941385;20811626 18171527;20383199;12782713;17526494;16285950;12681488;19591577;19475570;19454686;19428548;19417556;19394321;19376177;19317738;19299454;19196797;19188484;19167373;19157791;19155217;19109179;19081768;19038405;19009023;18853133;18852457;18842989;18832726;18815136;18795803;18720262;18710704;18684922;18680514;18677096;18676531;18502749;18493321;18490733;18474653;18469521;18466513;18426738;18362243;18356846;18270460;18261992;18242614;18239193;18235500;18228042;18177450;18171602;18165264;18097599;18081874;18078632;18060744;18054247;18037272;18034423;17912466;17906677;17869648;17854909;17854804;17786285;17763209;17728788;17712545;17709373;17706208;17658526;17620429;17592555;17591062;17559578;17541237;17495357;17438455;17438452;17224449;17215861;17206642;17181929;17172590;17166737;17142775;17108334;17075815;17029206;17005573;16929348;16893895;16872482;16861224;16854377;16839849;16820919;16807115;16767681;16724072;16709839;16677407;16538639;16527487;16488392;16388506;16385258;16369812;16317091;16314559;16314470;16243796;16224818;16220288;16205314;16200611;16189514;16133063;16115023;16085663;16051683;16000172;15910597;15910495;15838879;15820792;15815686;15800984;15757663;15659324;15630728;15612021;15592455;15585220;15585204;15576462;15545824;15545061;15489334;15461802;15308783;15304087;15292349;15231747;15216464;15170913;15146431;15146413;15065001;15018649;14760795;14736878;14607690;14581488;14551601;14502271;12965208;12847682;12822893;12796500;12746913;12740374;12738641;12667094;12665801;12631237;12626594;12615835;12607777;12507885;12480958;12477932;12445161;12402212;12355488;12235522;12218308;12218292;12186913;12180727;12126556;12109441;12070782;12032852;12009356;11997397;11985788;11978887;11920501;11875000;11508429;11259268;11170644;11089976;10353846;10334104;9027512;9006339;9002552;8988336;8766818;8647256;8643551;8610159;8601455;8289313;8234256;8188240;7947826;7683862;7679497;7558020;3917866;2552447;1286669;17353931;20178462;21208809;20203087;20460119;21162929;20646540;20382217;20872800;16780713;20534506;20598902;20944103;10562313;16169070;17045821;18930766;19062717;19170716;19260777;19406662;19423540;19464392;19601712;19602265;19644855;19665027;19720544;19723024;19724898;19726058;19737008;19747950;19759012;19762145;19773451;19776019;19776337;19829123;19938192;19941661;19950249;20038293;20085845;20127054;20149326;20193596;20200619;20233515;20237496;20303284;20346241;20380014;20406964;20438785;20447688;20452482;20467327;20471506;20546256;20863520;19913121;20621719;20628086;20673868;21087445;20805296;20878093;21045753;20847814;20980171;22988252;23050964;23060578;20807568;21169549;21283538;21283592;21071513;20448056;21106938;21030269;20369477;21281800;19799813;21515791;20829434;22451332;22883521;22939113;23043599;23028743;23125447;21209875;21817065;20861157;21512965;20499270;20573157;22893706;21852299;23537651;22742858;21823060;21269946;21360573;21942715;21641401;21773885;21417823;21684012;21875883;21553324;21623990;22127710;22302395;22543583;23411097;22007254;22174124;22327470;22430150;22611320;23403077;19738201;21963094;21988832;22623428;22676646;22810585;23000965;21575460;21725855;21750916;21848392;21990375;22166284;22271573;21607712;22001757;22079264;22415145;21139048;21401926;21792010;21890178;21890473;21906983;22461895;22449335;22099602;22693633;22820623;22927777;22939629;21319273;22609310;22649515;22206839;23383040;23272137;23207293;23064787;22782901;22949182;23068083;23354841;23023114;22759564;21607559;22053931;22505724;22892326;22898393;22952837 4282 I4AY87;P14174 ABBA01055124;AF469046;AK311929;AMYH01012647;AP000350;BC000447;BC007376;BC007676;BC008914;BC013976;BC022414;BC051440;BC053376;BT007148;CH471095;CR407644;CR456520;CR541651;DQ307455;JQ846015;L10612;L19686;M25639;M95775;NG_012099;NM_002415;Z23063 AAA21814;AAA35892;AAA36179;AAA36315;AAH00447;AAH07676;AAH08914;AAH13976;AAH22414;AAH53376;AAL78635;AAP35812;ABB96245;ABM83121;ABM86316;AFM09726;BAG34870;CAA80598;CAG28572;CAG30406;CAG46452;CAK54551;CAK54850;EAW59620;NP_002406;P14174 Hs.407995 2115910 D22S1553 GIF;GLIF;MMIF L-dopachrome isomerase;L-dopachrome tautomerase;OTTHUMP00000198465;macrophage migration inhibitory factor;phenylpyruvate tautomerase APPROVED protein-coding 7097 01091 153620;261550;604302 REVIEWED 1602998 MINA MYC induced nuclear antigen MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008] 3 3 q11.2 99143351 99173985 - 97660661 97691295 - 6480464 14702039;18029348;19502796;18629780;17803656;17786344;16344560;16189514;15897898;15819408;15534111;14742713;12477932;12091391;8889548;14695334;19756735;19914733;21386990;21832049;22939629;21631300;21139048;21906983 84864 D6RCB6;H0Y8K4;H0Y9L8;Q96KB0 AB083189;AB083190;AB083191;AB083192;AB083193;ABBA01026939;AC026100;AC110491;AK027299;AL550737;AMYH01013351;AY302110;AY390536;AY456380;BC014928;BM979079;CH471052;CR627479;DA310030;DA696177;DQ453796;NM_001042533;NM_001261829;NM_032778;NM_153182 AAH14928;AAP59421;AAR21572;AAR27293;ABE28016;BAB55024;BAC16358;BAC16359;BAC16360;BAC16361;BAC16537;CAH10679;EAW79872;EAW79873;EAW79874;EAW79875;NP_001035998;NP_001248758;NP_116167;NP_694822;Q8IUF8 Hs.570562;Hs.742206 1649483;1706858;2122429;2129871;2132441 D3S2782E;D3S4225;SHGC-77136;SHGC-77141;SHGC-80912 DKFZp762O1912;FLJ14393;MDIG;MINA53;NO52;ROX 60S ribosomal protein L27a histidine hydroxylase;MYC-induced nuclear antigen;OTTHUMP00000217524;OTTHUMP00000217525;OTTHUMP00000217526;bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA;histone lysine demethylase MINA;mineral dust induced gene protein;mineral dust-induced gene protein;myc-induced nuclear antigen, 53 kDa;nucleolar protein 52;ribosomal oxygenase MINA APPROVED protein-coding 19441 17575 612049 VALIDATED 1603802 MINOS1 mitochondrial inner membrane organizing system 1 1 1 1 p36.13 18250376 18283223 + 19796054 19827761 + 19923471 19956315 + 6480464 16710414;15489334;14702039;12477932;16344560;8889548;20877624;16341674;16712791;21944719;22114354 440574 Q5TGZ0 ABBA01059762;ABBA01059763;ABBA01059764;ABBA01059765;AJ711911;AK094318;AK096240;AL031727;AMYH01000316;BC009927;BC070388;BG687187;BM784596;CB157536;CB852406;CH471134;DA523181;DA793500;DB323148;NM_001032363;NM_001204082;NM_001204083;NR_033757;NR_033758 AAH09927;AAH70388;EAW94893;NP_001027535;NP_001191011;NP_001191012;Q5TGZ0 Hs.466662 1669460;1669462;1773215;5022578;5037552;5117897 D1S1423;D8S2279;GDB:631813;SHGC-74309;SHGC-74313;WI-11927 C1orf151;FLJ36999;FLJ75158;MIO10;RP5-1056L3.2 OTTHUMP00000002794;UPF0327 protein C1orf151;hypothetical protein LOC440574;mitochondrial inner membrane organizing system protein 1 APPROVED protein-coding ENSG00000173436 32068 VALIDATED 5131590 MIPEPP1 mitochondrial intermediate peptidase pseudogene 1 7 112375221 112378750 - 100533682 AACC02000001;ABBA01057841;AC079621;AMYH01017861;CH236947;NG_028675 pseudo 39456 INFERRED 1604362 MINK1 misshapen-like kinase 1 This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 4751747 4816237 + 4683351 4742135 + 4736635 4801356 + 6480464 18930710;10708748;18752142;17165161;17081983;16760206;15489334;15469942;15302935;14702039;12668260;12665801;12477932;12107410;12087176;8889548;21048137;15032605;16344560;22037766;19953087;21906983;22665485 50488 I3L1U1;I3L203;I3L2I2;I3L4T2;Q8N4C8 AB035698;AB041926;AB070507;AB209450;ABBA01054777;ABBA01054778;ABBA01054779;ABBA01054780;ABBA01054781;AC109333;AC233723;AF218033;AK096610;AL157418;AMYH01008043;AY775058;BC028888;BC034673;BC094686;BM674875;BQ006038;CA392419;CH471108;DA653105;NG_028005;NM_001024937;NM_015716;NM_153827;NM_170663 AAG17275;AAH34673;AAV41830;ABM82084;ABM85265;BAA90753;BAA94838;BAB97271;BAD92687;EAW90398;EAW90399;EAW90400;EAW90401;EAW90402;EAW90403;NP_001020108;NP_056531;NP_722549;NP_733763;Q8N4C8 Hs.443417 1675505;1730113;1734370;1734498;2124414;2125545;2167048;5093640;5491228 A009U14;D17S1448E;D17S1651E;D17S559;G09516;G32837;MARC_1869-1870:991931535:1;RH76075;WI-19144 B55;MAP4K6;MGC21111;MINK;YSK2;ZC3;hMINK;hMINKbeta GCK family kinase MINK;MAPK/ERK kinase kinase kinase 6;MEK kinase kinase 6;MEKKK 6;misshapen-like kinase 1;misshapen/NIK-related kinase;mitogen-activated protein kinase kinase kinase kinase 6;serine/threonine protein kinase APPROVED protein-coding ENSG00000141503 17565 11366 609426 REVIEWED 4891981 MIPEPP2 mitochondrial intermediate peptidase pseudogene 2 1 1 1 q43 212194821 212196425 - 237007063 237122660 - 238940425 238942029 - 22158540 100130099 ABBA01033209;AL583825;AL596107;AMYH01001867;NG_022759 1716649;1747593;2134634 AL009609;G65502;RH121581 pseudo 39457 INFERRED 1601868 MIOS missing oocyte, meiosis regulator, homolog (Drosophila) 7 7 7 p21.3 7575046 7615531 + 7573141 7613637 + 7606616 7647112 + 6480464 16344560;14973288;14702039;12477932;19615732;23000965;21139048;21890473 54468 C9JAQ1;C9JTV2;C9JUE6;Q9NXC5 AACC02000012;ABBA01056519;ABBA01056520;ABBA01056521;AC004982;AK000330;AK096829;AK294561;AL136892;AMYH01017057;AMYH01017058;BC005883;BC068512;BC140833;BC140834;CH236948;CH471073;DB300609;DB451117;NM_019005 AAC31788;AAH05883;AAI40834;AAI40835;BAA91090;BAG57758;CAB66826;EAW93598;EAW93599;EAW93600;EAW93601;EAW93602;NP_061878;Q9NXC5 Hs.520215 1695002;2142216;5022674;5109663 D7S2067E;FLJ20323;G44714;STS-H77456 FLJ20323 H_DJ1159O04.1;OTTHUMP00000201670;OTTHUMP00000201671;WD repeat-containing protein mio;WUGSC:H_DJ1159O04.1 protein-coding ENSG00000164654 21905 07898 615359 VALIDATED 733356 MINPP1 multiple inositol-polyphosphate phosphatase 1 This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009] 10 10 10 q23 83010751 83059744 + 89254633 89303125 + 89264223 89313218 + 737769;6480464;6907045;7240710 11297621 23186306;18413611;10087200;9923613;16344560;16335952;15489334;15164054;12975309;12477932;11536049;11230166;10938126;9472008;21071540;16385451;18497331;20304771;17207965;19850743;21139048;21906983 9562 Q9UNW1 AB209819;ABBA01021966;ABBA01021967;AF046914;AF046915;AF084943;AF084944;AK304624;AK309176;AK312937;AL050356;AL138767;AL355334;AMYH01002931;AW243689;AY358938;BC032504;BU173009;CH471066;DA295586;NG_013023;NM_001178117;NM_001178118;NM_004897 AAD02437;AAD02438;AAD09751;AAD09752;AAH32504;AAQ89297;ADQ31759;BAD93056;BAG35779;BAG65406;CAB43673;EAW50185;EAW50186;NP_001171588;NP_001171589;NP_004888;Q9UNW1 Hs.121260 2108827;2119267;2140743;2152537;5022653 A008Y13;MINPP1;MINPP1_8958;RH44276;SHGC-58350 DKFZp564L2016;HIPER1;MINPP2;MIPP 2,3-BPG phosphatase;2,3-bisphosphoglycerate 3-phosphatase;OTTHUMP00000020026;OTTHUMP00000020027;inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase;ins(1,3,4,5)P(4) 3-phosphatase;multiple inositol polyphosphate histidine phosphatase, 1;multiple inositol polyphosphate phosphatase 1;multiple inositol polyphosphate phosphatase 2 APPROVED protein-coding ENSG00000107789 7102 05652 188470;605391 VALIDATED 737368 MIOX myo-inositol oxygenase 22 22 q13.3 49272079 49275616 + 50925213 50928750 + 631888;1580863;6480464;6907045 10944187 15778219;15504367;15489334;15461802;14702039;12477932;11716759;10591208;3017301;2226462;19896870;18364358 55586 A6PVH2;A6PVH4;Q9UGB7 ABBA01042630;AF197129;AL096767;AMYH01012911;AMYH01012912;AMYH01012913;AY064416;AY738258;BC012025;BC064395;BC073848;CH471138;CR456478;NM_017584 AAF25204;AAH12025;AAH73848;AAL47192;AAV65816;CAG30364;CAK54459;CAK54758;EAW73544;EAW73545;EAW73546;EAW73547;NP_060054;Q9UGB7 Hs.129227 5037552;5091792 D8S2279;RH48341 ALDRL6;MGC90217 MI oxygenase;OTTHUMP00000196606;OTTHUMP00000196607;OTTHUMP00000196608;OTTHUMP00000196609;aldehyde reductase (aldose reductase) like 6;aldehyde reductase-like 6;inositol oxygenase;kidney-specific protein 32;renal-specific oxidoreductase protein-coding 14522 12443 606774 VALIDATED 1346542 MIR1-1 microRNA 1-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 60561957 60562027 + 61151513 61151583 + 6480464 22308266;22210864;18593903;17606841;15951802;19896465;20041488;20075508;21051663;20458751;12007417;16381832;17604727;20158877;20937250;22982320;21645416;21685920;21752897;21642241;21998125;22059741;22178073;22569256;22370643;20843712;22766685;23142026 406904 ABBA01012316;AL449263;AMYH01012058;NR_029780 MIRN1-1;hsa-mir-1-1;miRNA1-1 APPROVED miscrna 31499 609326 PROVISIONAL 1350943 MIR1-2 microRNA 1-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q11.2 16215028 16215112 - 17662962 17663046 - 19408965 19409049 - 15951802;12007417;16381832;17604727;20158877;20889907;20842122;21685920;22059741 406905 ABBA01022670;AC103987;AMYH01008876;NG_033272;NR_029662 MIRN1-2;hsa-mir-1-2;miRNA1-2 APPROVED miscrna ENSG00000207694 31500 610252 PROVISIONAL 1345382 MIR100 microRNA 100 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q24.1 119183604 119183683 - 121528146 121528225 - 122022937 122023016 - 6480464 22393979;19138993;11914277;20585341;21212412;23327924;16381832;17604727;17616659;20158877;20869334;19739117;19851984;20081105;20732906;20889907;22249248;23611267;19372056;21636267;21643017;21785383;22099053;22120675;22246341;22684006;23292834;23173870;22920721 406892 ABBA01031297;AF480498;AF480538;AMYH01004094;AP001359;NR_029515 MIRN100;miR-100 APPROVED miscrna ENSG00000207994 31487 613186 PROVISIONAL 1345212 MIR101-1 microRNA 101-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p31.3 63814935 63815009 - 65296704 65296778 - 65524117 65524191 - 6480464 19133651;19008416;20956939;11914277;15325244;16381832;17604727;17616659;20889907;21172309;21291913;21321380;21297974;23178713;21228036;21270667;21654684;21532618;21849855;21915098;22609199;23013439;22677230;23139385;23226399;23071542;22989749 406893 ABBA01074551;AF480499;AF480539;AL357078;AMYH01000682;NR_029516 MIRN101-1 APPROVED miscrna ENSG00000199135 31488 612511 PROVISIONAL 5490875 MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 13 13 q12.11 20759602 20774010 + 21872264 21967062 + 14702039;16344560;10409428;23251661;23400010 650794 ABBA01068604;ABBA01068605;AK093279;AL136219;AL139380;AL158032;AMYH01004957;BG940872;DA538853;NR_038939;NR_046461 Hs.147563 1716037;1748433;2187909 G64218;G66094;RH120957 LINC00539 pseudo 39458 VALIDATED 1351023 MIR103A1 microRNA 103a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q34 164023249 164023326 - 167920478 167920555 - 167987901 167987978 - 6480464 11914277;15183728;16381832;17604727;17616659;20158877;21179570;22253921 406895 ABBA01044122;AC020894;AF480501;AF480545;AMYH01015796;NR_029520 MIR103-1;MIRN103-1 APPROVED miscrna 31490 613187 PROVISIONAL 1347793 MIR101-2 microRNA 101-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p24.1 4775888 4775966 + 4840296 4840374 + 4850297 4850375 + 19133651;19008416;20889907;11914277;15325244;16381832;17604727;17616659 406894 ABBA01065419;AF480540;AL158147;AMYH01019201;NR_029836 MIRN101-2 APPROVED miscrna 31489 612512 PROVISIONAL 2946922 MIR103B1 microRNA 103b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 164023257 164023318 + 167987909 167987970 + 16381832;18524951 100302238 ABBA01044122;AC020894;AMYH01015796;NR_031721 1335317 D3S2415 MIR103-1AS;MIRN103-1AS;hsa-mir-103-1-as APPROVED miscrna 35384 PROVISIONAL 1348325 MIR105-1 microRNA 105-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151807496 151807576 - 151311346 151311426 - 151560691 151560771 - 11914277;16381832;17604727 406897 ABBA01037311;AC108171;AF480503;AF480547;AMYH01023233;NR_029521 MIRN105-1 APPROVED miscrna ENSG00000207957 31492 300811 PROVISIONAL 2946909 MIR103B2 microRNA 103b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 3960022 3960083 - 3898149 3898210 - 16381832;18524951 100302282 ABBA01053841;AL353194;AMYH01011679;NR_031722 1648608 RH48352 MIR103-2-AS;MIR103-2AS;MIRN103-2AS;hsa-mir-103-2-as APPROVED miscrna 35385 PROVISIONAL 1350334 MIR105-2 microRNA 105-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151809689 151809769 - 151313539 151313619 - 151562884 151562964 - 11914277;16381832;17604727 406898 ABBA01037311;AC108171;AF480548;AMYH01023233;NR_029522 MIRN105-2 APPROVED miscrna ENSG00000207818 31493 300812 PROVISIONAL 1353045 MIR106A microRNA 106a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133691061 133691141 - 133131893 133131973 - 133304228 133304308 - 6480464 19307576;21454525;20089119;11914277;12554860;12624257;16381832;17604727;20349219;21370248;20628822;22912877;23178825;21656380;23438603 406899 ABBA01042404;AC002407;AF480504;AF480549;AJ550400;AMYH01022992;NR_029523 MIRN106A;mir-106 APPROVED miscrna ENSG00000207602 31494 300792 PROVISIONAL 1346496 MIR106B microRNA 106b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q22.1 99529551 99529632 - 99691616 99691697 - 6480464 21283757;21283765;19096009;18328430;18212054;22393390;20637509;12919684;15634332;15800047;15978578;16381832;17604727;17616659;18230126;19486339;20167074;20388916;20609231;20889907;23087084;23255112;21953646;22119192;22825541;23307259;23338559;22613985 406900 AACC02000084;ABBA01013238;AC073842;AMYH01017726;CH236956;NR_029831 MIRN106B APPROVED miscrna 31495 612983 PROVISIONAL 1346170 MIR107 microRNA 107 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q23.31 85099321 85099401 - 91342483 91342563 - 91352504 91352584 - 6480464 18234899;12624257;11914277;21264532;22593189;19688090;19692702;20308559;20413881;16381832;17604727;20489155;20889907;22811466;20884628;22723340;20833636;21625387;21179570;21628465;21841313;21029372;22407237;23220650;22158047 406901 ABBA01021945;AF480505;AF480550;AJ550401;AL157400;AMYH01002934;NG_029474;NR_029524 MIRN107;miR-107 APPROVED miscrna 31496 613189 VALIDATED 735323 MIP major intrinsic protein of lens fiber Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008] 12 12 q13 55130151 55134696 - 56843286 56848435 - 1599936;1580863;6480464;7240710 10802646 9664032;1840563;19137077;18501347;18247294;18004741;17960133;17932686;17893667;16564824;16549056;15489334;15274640;12642491;12522663;12477932;12107413;11001937;10634618;10067969;9421492;9268644;8910261;8889548;8566800;8529419;7536742;7525161;2487274;2335219;2176601;1911643;1790714;1505237;21245956;19723544;19857466;20361015;19913121;20628086;21139677;21232536;23116563;21647270;22662182;21921980;21850180;22036630 4284 P30301 ABBA01008424;AC024884;AK307357;AMYH01004505;BC074913;BC117474;BM696300;BM705396;BM716579;BM724221;CD675949;CH471054;NG_021397;NM_012064;U36308 AAC02794;AAH74913;AAI17475;ADR82888;EAW96940;NP_036196;P30301 Hs.574026 1734018;1746885 D12S1125;G64800 AQP0;CTRCT15;LIM1;MIP26;MP26 OTTHUMP00000244021;aquaporin 0;lens fiber major intrinsic protein;major intrinsic protein of eye lens fiber APPROVED protein-coding ENSG00000135517 7103 01098 154050;615274 REVIEWED 1344343 MIPEP mitochondrial intermediate peptidase The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008] 13 13 13 q12 5366999 5526241 - 23202328 23361559 - 24304328 24463587 - 1580863;6480464 9073519;12477932;10783257;8125298;1322290;21145461;16344560;18029348;20877624;21640322;22589738;21900206;21725308 4285 Q5JV14;Q99797 ABBA01007881;ABBA01007882;ABBA01007883;AK225290;AK291923;AK308908;AL139080;AL157368;AL445985;AMYH01004970;AMYH01004971;BC009934;CH471075;DA419922;NM_005932;U80034 AAC51231;AAH09934;ABM84536;ABM87838;BAF84612;EAX08328;EAX08329;NP_005923;Q99797 Hs.507498 1342079;1709782;1715469;1721507;1765869;2171727;5094168 D13S1687;D13S787;G54586;G59608;RH120899;SHGC-149289;SHGC-84707 HMIP;MIP OTTHUMP00000018121;mitochondrial intermediate peptidase APPROVED protein-coding ENSG00000027001 7104 03761 602241 REVIEWED 1352164 MIR10B microRNA 10b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 q31.1 176723276 176723385 + 177015031 177015140 + 6480464 19536818;17898713;16549775;12624257;22318752;23238818;21471404;14573789;16381832;17604727;17616659;20732742;20889907;19780876;20075075;22847191;23034333;20550523;20843787;21118818;22836757;21241449;21419107;22528944;21212796;21642433;21562367;21769427;22018284;23206733;21652542;22915757;22057972;22020939;22293682;23125021;22573479;22580603;22322955 406903 ABBA01062219;AC009336;AJ550395;AMYH01011292;NR_029609 MIRN10B;hsa-mir-10b;miRNA10B;mir-10b APPROVED miscrna ENSG00000207744 31498 611576 VALIDATED 1348739 MIR10A microRNA 10a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q21.32 43111353 43111462 - 44012198 44012307 - 46657200 46657309 - 6480464 19462682;19074828;18773208;16549775;12624257;16381832;17604727;17616659;20588024;19747919;19461655;21118818;21212796;22348345;22955733;21784052;22407312;22634495;22976466;22996586;23272089 406902 ABBA01041172;AC103702;AJ550394;AMYH01008455;NR_029608 MIRN10A;hsa-mir-10a;miRNA10A;mir-10a APPROVED miscrna ENSG00000207777 31497 610173 PROVISIONAL 2312909 MIR1179 microRNA 1179 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 65552227 65552317 + 89151338 89151428 + 16381832;17922033;23408906 100302235 ABBA01053000;AC013489;AMYH01006909;NR_031590 MIRN1179;hsa-mir-1179 APPROVED miscrna ENSG00000221630 35260 PROVISIONAL 2312890 MIR1178 microRNA 1178 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 q24.23 119784484 119784574 - 120151439 120151529 - 16381832;17922033 100302274 ABBA01020077;AC002563;AMYH01004792;NG_029792;NR_031589 MIRN1178;hsa-mir-1178 APPROVED miscrna 35259 VALIDATED 2312899 MIR1180 microRNA 1180 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 16660642 16660710 - 19247819 19247887 - 16381832;17922033;19508715 100302256 ABBA01054610;AC124066;AMYH01008233;NG_031885;NR_031591 MIRN1180;hsa-mir-1180 APPROVED miscrna 35261 VALIDATED 2312924 MIR1181 microRNA 1181 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 10408840 10408920 - 10514134 10514214 - 6480464 16381832;17922033 100302213 ABBA01029932;AC011548;AMYH01009473;NR_031592 MIRN1181;hsa-mir-1181 APPROVED miscrna 35262 PROVISIONAL 2312985 MIR1182 microRNA 1182 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 q42.2 204422161 204422257 - 231155574 231155670 - 16381832;17922033 100302132 ABBA01033033;AL732414;AMYH01001816;NR_031593 MIRN1182;hsa-mir-1182 APPROVED miscrna 35263 PROVISIONAL 2312993 MIR1183 microRNA 1183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 21496173 21496261 + 21510676 21510764 + 16381832;17922033 100302122 AACC02000007;ABBA01056683;AC004595;AMYH01017105;CH236948;NR_031594 MIRN1183;hsa-mir-1183 APPROVED miscrna 35264 PROVISIONAL 2313001 MIR1184-1 microRNA 1184-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 154274254 154374370 - 154115635 154115733 - 16381832;17922033 100302111 BX842559;BX842564;BX890586;NR_036049 1702350;1741041;1741063;1741113;1742353;1787250;1795176;1801258;1802724;1803872;1804438;1804826;1804946;1805010;1806816;1810024;1810614;1810616;1810990;1811870;1815158;1815538;1817472;1819244;1819902;1820716;1820784;1824638;1826424;1827882;1828526;1831084;1831208;1834782;1837872;1838148;1839154;1839776;1840584;1840786;1841192;1843146;1844146;1844222;1844320;1846178;2039908;2039910;2039912;2039914;2039916;2039918;2039920;2039922;2039924;2039926;2039928;2039930;2039932;2039934;2039936;2039938;2039942;2039944;2039946;2039948;2039950;2039952;2039954;2039956;2039958;2039960;2039962;2039964;2039966;2039968;2039970;2039972;2039974;2039976;2039978;2039980;2039982;2039984;2039986;2039988;2039990;2039992;2039996;2039998;2040000;2040002;2040004;2040006;2040008;2040010;2040014;2040016;2040018;2040020;2040022;2040024;2040026;2040028;2040030;2040032;2040034;2040036;2040038;2040040;2040042;2040044;2040046;2040048;2040050;2040052;2040054;2040056;2040058;2040060;2040062;2040064;2040066;2040068;2040070;2040072;2040074;2040076;2040078;2040080;2040082;2040084;2040086;2040088;2040090;2040092;2040094;2040096;2040098;2040100;2040102;2040104;2040106;2040108;2040110;2040112;2040114;2040116;2040118;2040120;2040122;2040124;2040126;2040128;2040130;2040132;2040134;2040136;2040138;2040140;2040142;2040144;2040146;2040148;2040150;2040152;2040154;2040156;2040158;2040160;2040162;2040164;2040166;2040168;2040170;2040172;2040174;2040176;2040178;2040180;2040182;2040184;2040186;2040188;2040190;2040192;2040194;2040196;2040198;2040200;2040202;2040204;2040206;2040208;2040210;2040212;2040214;2040216;2040218;2040220;2040222;2040224;2040226;2040228;2040230;2040232;2040234;2040236;2040238;2040240;2040242;2040244;2040246;2040248;2040250;2040252;2040254;2040256;2040258;2040260;2040262;2040264;2040266;2040268;2040270;2040272;2040274;2040276;2040278;2040280;2040282;2040284;2040286;2040288;2040290;2040292;2040294;2040296;2040298;2040300;2040302;2040304;2040306;2040308;2040310;2040312;2040314;2040316;2040318;2040320;2040322;2040324;2040326;2040328;2040330;2040332;2040334;2040336;2040338;2040340;2040342;2040344;2040346;2040348;2040350;2040352;2040354;2040356;2040358;2040360;2040362;2040364;2040366;2040368;2040370;2040372;2040374;2040376;2040378;2040380;2040382;2040384;2040386;2040388;2040390;2040392;2040394;2040396;2040398;2040400;2040402;2040404;2040406;2040408;2040410;2040412;2040414;2040416;2040418;2040420;2040422;2040424;2040426;2040428;2040430;2040432;2040434;2040436;2040438;2040440;2040442;2040444;2040446;2040448;2040450;2040452;2040454;2040456;2040458;2040460;2040462;2040464;2040466;2040468;2040470;2040472;2040474;2040476;2040478;2040480;2040482;2040484;2040486;2040488;2040490;2040492;2040494;2040496;2040498;2040500;2040502;2040504;2040508;2040510;2040512;2040514;2040516;2040518;2040520;2040522;2040524;2040526;2040528 ECD01501;ECD02249;ECD02848;ECD03143;ECD03347;ECD03412;ECD03445;ECD04373;ECD06004;ECD06300;ECD06301;ECD06493;ECD06939;ECD08613;ECD08805;ECD09786;ECD10689;ECD11022;ECD11433;ECD11467;ECD13417;ECD14326;ECD15064;ECD15390;ECD16678;ECD16740;ECD18539;ECD20106;ECD20246;ECD20757;ECD21071;ECD21482;ECD21584;ECD21791;ECD22781;ECD23286;ECD23324;ECD23374;ECD24309;GDB:177507;GDB:177561;GDB:177816;GDB:196462;GDB:450201;HSC271_(M4);REN90981;REN90982;REN90983;REN90984;REN90985;REN90986;REN90987;REN90988;REN90989;REN90990;REN90991;REN90992;REN90993;REN90994;REN90995;REN90996;REN90998;REN90999;REN91000;REN91001;REN91002;REN91003;REN91004;REN91005;REN91006;REN91007;REN91008;REN91009;REN91010;REN91011;REN91012;REN91013;REN91014;REN91016;REN91017;REN91018;REN91019;REN91020;REN91021;REN91022;REN91023;REN91024;REN91026;REN91027;REN91028;REN91029;REN91030;REN91031;REN91032;REN91033;REN91035;REN91036;REN91037;REN91038;REN91039;REN91040;REN91041;REN91042;REN91043;REN91044;REN91045;REN91046;REN91047;REN91048;REN91050;REN91051;REN91052;REN91053;REN91054;REN91055;REN91056;REN91057;REN91058;REN91059;REN91060;REN91061;REN91062;REN91063;REN91064;REN91065;REN91066;REN91067;REN91068;REN91069;REN91070;REN91071;REN91072;REN91073;REN91074;REN91075;REN91076;REN91077;REN91078;REN91079;REN91080;REN91081;REN91082;REN91083;REN91084;REN91085;REN91086;REN91087;REN91088;REN91089;REN91090;REN91091;REN91092;REN91093;REN91094;REN91095;REN91096;REN91097;REN91098;REN91099;REN91100;REN91101;REN91102;REN91105;REN91106;REN91107;REN91108;REN91109;REN91110;REN91111;REN91112;REN91113;REN91114;REN91115;REN91116;REN91117;REN91118;REN91119;REN91120;REN91121;REN91122;REN91123;REN91124;REN91125;REN91126;REN91127;REN91128;REN91129;REN91130;REN91131;REN91132;REN91133;REN91134;REN91135;REN91136;REN91137;REN91138;REN91139;REN91140;REN91141;REN91142;REN91143;REN91144;REN91145;REN91146;REN91147;REN91148;REN91149;REN91150;REN91151;REN91152;REN91153;REN91154;REN91155;REN91156;REN91157;REN91159;REN91161;REN91162;REN91163;REN91164;REN91165;REN91166;REN91167;REN91168;REN91169;REN91170;REN91171;REN91172;REN91173;REN91174;REN91175;REN91176;REN91177;REN91178;REN91179;REN91180;REN91181;REN91182;REN91183;REN91184;REN91185;REN91186;REN91187;REN91188;REN91189;REN91190;REN91191;REN91192;REN91193;REN91194;REN91195;REN91196;REN91197;REN91198;REN91199;REN91200;REN91201;REN91202;REN91203;REN91204;REN91205;REN91206;REN91207;REN91208;REN91209;REN91210;REN91211;REN91212;REN91213;REN91214;REN91215;REN91216;REN91217;REN91218;REN91219;REN91220;REN91221;REN91222;REN91223;REN91224;REN91225;REN91226;REN91227;REN91228;REN91229;REN91230;REN91231;REN91232;REN91233;REN91234;REN91235;REN91236;REN91237;REN91238;REN91239;REN91240;REN91241;REN91242;REN91243;REN91244;REN91245;REN91247;REN91248;REN91249;REN91250;REN91251;REN91252;REN91253;REN91254;REN91255;REN91256;REN91257;REN91258;REN91259;REN91260;REN91261;REN91262;REN91263;REN91264;REN91265;REN91266;REN91267;REN91268;REN91269;REN91270;REN91271;REN91272;REN91273;REN91274;REN91275;REN91276;REN91277;REN91278;REN91279;REN91280;REN91281;REN91282;REN91283;REN91284;REN91285;REN91286;REN91288;REN91289;REN91290;REN91291;REN91292;REN91293;REN91294;REN91295;REN91296;REN91297;REN91298;SHGC-143362 MIR1184;MIRN1184;hsa-mir-1184;hsa-mir-1184-1 APPROVED miscrna 35265 PROVISIONAL 2312965 MIR1185-1 microRNA 1185-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 81565371 81565456 + 101509314 101509399 + 16381832;16954537;17922033 100302157 ABBA01048514;AL132709;AMYH01006017;NR_031575 1848579 RH65612 MIRN1185-1;hsa-mir-1185-1 APPROVED miscrna ENSG00000221525 35257 PROVISIONAL 4109917 MIR1184-3 microRNA 1184-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 154687178 154687276 + 16381832;17922033 100422977 BX276110;BX571846;NR_036260 APPROVED miscrna ENSG00000221603 38389 PROVISIONAL 2312928 MIR1185-2 microRNA 1185-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 81566592 81566677 + 101510535 101510620 + 16381832;16954537;17922033 100302209 ABBA01048514;AL132709;AMYH01006017;NR_031571 MIRN1185-2;hsa-mir-1185-2 APPROVED miscrna ENSG00000221614 35254 PROVISIONAL 4108934 MIR1184-2 microRNA 1184-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 154612749 154612847 - 16381832;17922033 100422985 ABBA01029147;AC234781;AMYH01023321;BX682237;NR_036259 APPROVED miscrna ENSG00000221190 38211 PROVISIONAL 4109084 MIR1193 microRNA 1193 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 81552433 81552510 + 101496389 101496466 + 16381832;20300190 100422837 ABBA01048514;AL132709;AMYH01006016;NR_036132 APPROVED miscrna ENSG00000221036 38247 PROVISIONAL 2312903 MIR1197 microRNA 1197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 81547933 81548020 + 101491901 101491988 + 16381832;18230126 100302250 ABBA01048514;AL132709;AMYH01006016;NR_031713 MIRN1197;hsa-mir-1197 APPROVED miscrna ENSG00000221745 35376 PROVISIONAL 4892400 MIR100HG mir-100-let-7a-2 cluster host gene (non-protein coding) 11 11 q24.1 119120491 119234460 - 121959811 122073770 - 12477932;14702039;19779542;21031016;19531736 399959 ABBA01031296;ABBA01031297;AK021552;AK091713;AK123947;AK311309;AMYH01004094;AP000755;AP001359;AP001924;BC040599;BX538058;BX647608;NR_024430 Hs.44098;Hs.732590 1671388;1700502;1715275;1732385;2120861;2137454;2141177;2174704;2177699;5093306 A009L12;D11S1860;FB17D4;G32641;RH103872;RH119888;RH36606;RH66266;SHGC-31166;WI-16084 AGD1;DKFZp686J24156;DKFZp686L0115;FLJ11490;FLJ18351;FLJ34394;FLJ41953 miscrna 39522 VALIDATED 2312999 MIR1200 microRNA 1200 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 p14.2 36943404 36943479 - 36958962 36959037 - 16381832;17989717 100302113 AACC02000036;ABBA01056911;AC078844;AMYH01017181;CH236951;NR_031604 MIRN1200;hsa-mir-1200 APPROVED miscrna 35266 PROVISIONAL 2312923 MIR1201 microRNA 1201 16381832;17989717 100302216 AL355075;NR_031605 MIRN1201;hsa-mir-1201 miscrna 35267 2312896 MIR1202 microRNA 1202 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 157002408 157002490 + 156267931 156268013 + 16381832;17989717 100302259 ABBA01025571;AL583861;AMYH01016767;NR_031606 MIRN1202;hsa-mir-1202 APPROVED miscrna ENSG00000221456 35268 PROVISIONAL 2312926 MIR1203 microRNA 1203 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 42688155 42688239 - 46233789 46233873 - 16381832;17989717 100302211 ABBA01041161;AC006468;AMYH01008452;NR_031607 MIRN1203;hsa-mir-1203 APPROVED miscrna 35269 PROVISIONAL 2312962 MIR1205 microRNA 1205 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 125153674 125153736 + 128972879 128972941 + 16381832;18314482 100302161 ABBA01037953;AC103705;AMYH01019015;NR_031610 MIRN1205;hsa-mir-1205 APPROVED miscrna ENSG00000221771 35271 PROVISIONAL 1345954 MIR103A2 microRNA 103a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 p13 3960014 3960091 + 3846140 3846217 + 3898141 3898218 + 6480464 12477932;11914277;15183728;16381832;17604727;17616659;19144710;20158877 406896 ABBA01053841;AF480544;AL353194;AMYH01011679;NR_029519 MGC17708;MIR103-2;MIRN103-2 APPROVED miscrna 31491 613188 PROVISIONAL 2312944 MIR1204 microRNA 1204 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 124988571 124988637 + 128808208 128808274 + 16381832;18314482;22110125 100302185 ABBA01037949;AC103819;AMYH01019015;NR_031609 2131597 STS-S79854 hsa-mir-1204 APPROVED miscrna ENSG00000221315 37059 PROVISIONAL 2312956 MIR1206 microRNA 1206 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 125201946 125202004 + 129021144 129021202 + 16381832;18314482;23077621 100302170 ABBA01037953;AC103705;AMYH01019015;NR_031611 MIRN1206;hsa-mir-1206 APPROVED miscrna 35272 PROVISIONAL 2312952 MIR1207 microRNA 1207 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 125241705 125241791 + 129061398 129061484 + 22319602;16381832;18314482 100302175 ABBA01037954;AC103705;AMYH01019015;NR_031612 MIRN1207;hsa-mir-1207 APPROVED miscrna ENSG00000221176 35273 PROVISIONAL 2312874 MIR1224 microRNA 1224 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 q27.1 182399957 182400041 + 183959193 183959277 + 6480464 17964270;16381832;16954537;22472876 100187716 ABBA01058452;AC061705;AMYH01013714;NR_030410 MIRN1224 APPROVED miscrna 33923 611620 PROVISIONAL 2312886 MIR1208 microRNA 1208 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 q24.21 125342678 125342750 + 129162362 129162434 + 16381832;18314482;23042114 100302281 ABBA01037957;AC007860;AMYH01019015;NR_031613 MIRN1208;hsa-mir-1208 APPROVED miscrna ENSG00000221261 35274 PROVISIONAL 1347392 MIR122 microRNA 122 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 q21.31 54269285 54269369 + 56118306 56118390 + 6480464 19607815;19296470;19122656;19021529;19020517;18692484;18550664;17919492;17616664;16924677;22276989;21383155;20124555;12007417;15978578;16381832;17604727;20395958;20889907;21402708;20427538;20351063;20561966;20859956;20960104;19403413;19584283;19617899;19846523;19891584;19917630;22610888;23026916;20625373;20637242;21177824;21229610;22587332;22815988;20739924;21478871;20150764;21185047;22957141;23055569;21199296;23118427;21868483;21750653;21763238;21692939;22072754;21556053;21725618;21903935;22215596;22105316;22235305;22114337;22140464;22532678;22189820;22999255;23029162;23200856;23189819;23056576;23248316;23221562;22593164 406906 ABBA01056147;AC105105;AMYH01009026;NR_029667 1679133;1725605;2139188 G62091;RH36326;RH99202 MIR122A;MIRN122;MIRN122A;hsa-mir-122;miRNA122;miRNA122A APPROVED miscrna ENSG00000207778 31501 609582 PROVISIONAL 2313002 MIR1225 microRNA 1225 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 p13.3 2352309 2352398 - 2140196 2140285 - 17964270;16381832 100188847 ABBA01030275;AC093513;AMYH01007047;NR_030646 1745797 GDB:641995 MIRN1225 APPROVED miscrna 33931 611621 PROVISIONAL 2312911 MIR1226 microRNA 1226 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 p21.31 47840904 47840978 + 47891045 47891119 + 16381832;17964270;20514397 100302232 ABBA01024669;AC139667;AMYH01013146;NR_031595 1684240;1684242 RH69910;RH99010 MIRN1226;hsa-mir-1226 APPROVED miscrna 33922 PROVISIONAL 2312966 MIR1229 microRNA 1229 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 174850435 174850503 - 179225278 179225346 - 16381832;17964270 100302156 ABBA01010042;AC008393;AMYH01015958;NG_028161;NR_031598 MIRN1229;hsa-mir-1229 APPROVED miscrna 33924 VALIDATED 2312934 MIR1228 microRNA 1228 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 57588287 57588359 + 16381832;17964270;22434376 100302201 AC137834;AMYH01004512;NR_031597 MIRN1228;hsa-mir-1228 APPROVED miscrna 33928 PROVISIONAL 2312885 MIR1227 microRNA 1227 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 2168238 2168325 - 2234061 2234148 - 16381832;17964270 100302283 ABBA01002714;AC005263;AMYH01009278;NG_029793;NR_031596 MIRN1227;hsa-mir-1227 APPROVED miscrna 33932 VALIDATED 2312963 MIR1233-1 microRNA 1233-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 11483094 11483175 - 34674270 34674351 - 6480464 16381832;17964270;21984948 100302160 AC025678;NR_036050 MIR1233;MIRN1233;hsa-mir-1233;hsa-mir-1233-1 APPROVED miscrna 33929 PROVISIONAL 2312938 MIR1234 microRNA 1234 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 145625476 145625559 - 16381832;17964270 100302196 AF205589;NR_031600 2185717 STS-R82814 MIRN1234;hsa-mir-1234 APPROVED miscrna 33926 PROVISIONAL 2312887 MIR1237 microRNA 1237 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 61462074 61462175 + 64136074 64136175 + 16381832;17964270 100302280 ABBA01003301;AMYH01003706;AP003774;NR_031602 MIRN1237;hsa-mir-1237 APPROVED miscrna 33927 PROVISIONAL 2312906 MIR1236 microRNA 1236 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 33524378 33524479 - 31924616 31924717 - 16381832;17964270;22223733 100302242 ABBA01038099;AL645922;AL662849;AL844853;AMYH01016223;BX005143;CR388219;CR753845;CR759782;NG_032652;NR_031601 MIRN1236;hsa-mir-1236 APPROVED miscrna 33925 VALIDATED 2312914 MIR1238 microRNA 1238 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 10557514 10557596 + 10662798 10662880 + 16381832;17964270 100302226 ABBA01029914;AC011461;AMYH01009477;NR_031603 MIRN1238;hsa-mir-1238 APPROVED miscrna 33933 PROVISIONAL 2312964 MIR1231 microRNA 1231 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 174901560 174901651 + 201777739 201777830 + 16381832;17964270;22824466 100302158 ABBA01027524;AL645504;AMYH01001644;NR_031599 MIRN1231;hsa-mir-1231 APPROVED miscrna 33921 PROVISIONAL 2312942 MIR1243 microRNA 1243 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 111319661 111319753 + 114028019 114028111 + 16381832;18285502 100302188 ABBA01063830;AC093879;AMYH01014474;NG_009006;NR_031641 MIRN1243;hsa-mir-1243 APPROVED miscrna 35304 VALIDATED 4109058 MIR1233-2 microRNA 1233-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 34820491 34820572 - 16381832;17964270 100422845 ABBA01038529;AC027139;NR_036261 APPROVED miscrna 38277 PROVISIONAL 2312884 MIR1244-1 microRNA 1244-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 10929203 10929287 - 232578024 232578108 + 16381832;18285502 100302285 ABBA01002043;AC073476;AMYH01011561;NR_036052 MIR1244;MIRN1244;hsa-mir-1244;hsa-mir-1244-1 APPROVED miscrna 35310 VALIDATED 2312921 MIR1245A microRNA 1245a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 q32.2 183437677 183437746 + 189842818 189842887 + 16381832;18285502;22158906 100302219 ABBA01062370;AC066694;AMYH01011343;NR_031647 MIR1245;MIRN1245;hsa-mir-1245;hsa-mir-1245a APPROVED miscrna 35311 PROVISIONAL 1342588 MIR124-3 microRNA 124-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 58487339 58487425 + 61280296 61280382 + 61809852 61809938 + 12007417;12554860;15183728;15325244;16381832;17604727;19843643;21112327;21917081;23321515 406909 ABBA01021389;AL096828;AMYH01012073;NR_029670 MIRN124-3;MIRN124A3 APPROVED miscrna ENSG00000207598 31504 PROVISIONAL 4109945 MIR1244-2 microRNA 1244-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 114257194 114257278 + 118310281 118310365 + 16381832;18285502 100422885 ABBA01068985;AC008629;AMYH01015574;NR_036262 APPROVED miscrna 38321 PROVISIONAL 1346807 MIR124-2 microRNA 124-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q12.3 61281708 61281816 + 65454259 65454367 + 65291706 65291814 + 19843643;12007417;12554860;15183728;15325244;16381832;17604727;21112327;21917081;23176198 406908 ABBA01041851;AC013492;AMYH01018764;NR_029669 1671662;2176149 A004N38;SGC31875 MIRN124-2;MIRN124A2 APPROVED miscrna ENSG00000207816 31503 PROVISIONAL 4109946 MIR1244-3 microRNA 1244-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 17407936 17408020 + 9392063 9392147 - 16381832;18285502 100422872 ABBA01012258;AC010175;AMYH01004244;NR_036263 APPROVED miscrna 38390 VALIDATED 1349266 MIR124-1 microRNA 124-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 p23.1 9798307 9798391 - 9760898 9760982 - 19502795;19138993;18607543;18451139;15183728;22450659;19843643;19851984;19944075;21062284;12007417;12554860;15325244;16381832;17604727;22541098;20599952;20665740;20732906;20889907;21112327;22430032;23135476;22085528;22940133;22885837;22333974;21307844;21672940;21914401;22082000;23172372;23049088;21365509 406907 ABBA01026897;AC055869;AMYH01018472;NR_029668 1656459;1657503;1789054;2147241 G65662;RH78832;SHGC-31177;STS-AA001426 MIR124A;MIR124A1;MIRN124-1;MIRN124A1 APPROVED miscrna ENSG00000208010 31502 609327 PROVISIONAL 2312974 MIR1247 microRNA 1247 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 82081713 82081848 - 102026624 102026759 - 16381832;18285502 100302145 ABBA01048510;AL049836;AMYH01006020;NR_031649 2131597 STS-S79854 MIRN1247;hsa-mir-1247 APPROVED miscrna ENSG00000221133 35313 PROVISIONAL 1344580 MIPOL1 mirror-image polydactyly 1 This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010] 14 14 14 q13.3 17530709 17881334 + 36736907 37090215 + 37667118 38020464 + 6480464;7240710 18029348;15489334;12700605;12477932;11954550;19667180;20379614;16712791;21906983 145282 A8K735;G3V2C4;G3V3K8;G3V5R6;G5EA54;Q49AL5;Q4G0U7;Q8TD10 ABBA01061530;ABBA01061531;AK291850;AL079304;AL109759;AL121790;AL121857;AMYH01005677;AMYH01005678;AMYH01005679;AY059470;BC035870;BC036124;BC036523;BX537396;BX537870;BX647795;CB105473;CH471078;NG_027724;NM_001195296;NM_001195297;NM_138731 AAH35870;AAH36124;AAH36523;AAL27798;BAF84539;CAD97638;CAD97872;EAW65846;EAW65847;EAW65848;EAW65849;EAW65850;NP_001182225;NP_001182226;NP_620059;Q8TD10 Hs.660396 1667092;1677168;1705356;1711244;1717531;1718773;1724327;2121293;2155296;2190345;5014554;5015603;5015615;5115198 CGR58;D11S2442;D11S2951;D11S3076;G02231;G36018;G36255;RH119086;RH122070;RH123077;RH48004;RH75590;SHGC-83530;SHGC-84980 DKFZp313M2036;MGC34010 OTTHUMP00000178878;OTTHUMP00000244828;OTTHUMP00000244829;mirror-image polydactyly gene 1 protein APPROVED protein-coding ENSG00000151338 21460 06029 135750;606850 REVIEWED 2312977 MIR1246 microRNA 1246 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 q31.1 171068496 171068568 - 177465708 177465780 - 6480464 16381832;18285502;22751441 100302142 ABBA01062224;AC017048;AMYH01011294;NR_031648 MIRN1246;hsa-mir-1246 APPROVED miscrna 35312 PROVISIONAL 2312976 MIR1248 microRNA 1248 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] q27.3 16381832;18285502 100302143 AC112907;NR_031650 MIRN1248;hsa-mir-1248 APPROVED miscrna 35314 PROVISIONAL 2312970 MIR1249 microRNA 1249 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 q13.31 29508273 29508338 - 45596835 45596900 - 16381832;18285502 100302149 ABBA01007129;AL008718;AMYH01012847;NR_031651 MIRN1249;hsa-mir-1249 APPROVED miscrna 35315 PROVISIONAL 2312883 MIR1251 microRNA 1251 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 97551316 97551385 + 97885687 97885756 + 6480464 16381832;18285502;18402656 100302289 ABBA01053302;AC007351;AMYH01004685;NR_031653 MIRN1251;hsa-mir-1251 APPROVED miscrna ENSG00000221479 35317 PROVISIONAL 2974680 MIR1252 microRNA 1252 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 q24.23 79479707 79479771 + 79813037 79813101 + 16381832;18285502 100302136 ABBA01053507;AC073570;AMYH01004610;NR_031700 MIRN1252;hsa-mir-1252 APPROVED miscrna 35365 PROVISIONAL 5134100 MIR1245B microRNA 1245b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 189842819 189842887 - 16381832;21199797 100616324 ABBA01062370;AC066694;AMYH01011343;NR_039947 APPROVED miscrna 41794 PROVISIONAL 2312912 MIR1250 microRNA 1250 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 75735167 75735279 - 79106996 79107108 - 16381832;18285502 100302229 ABBA01032125;AC115099;AMYH01008706;NG_029981;NR_031652 MIRN1250;hsa-mir-1250 APPROVED miscrna 35316 VALIDATED 3497336 MIR1255B1 microRNA 1255b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 36867509 36867571 - 36427988 36428050 - 16381832;18285502 100313806 ABBA01074291;AC112140;AMYH01014108;NR_031701 MIR1255B-1;MIRN1255B1 APPROVED miscrna 35366 PROVISIONAL 2312929 MIR1253 microRNA 1253 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 2668020 2668124 - 2651372 2651476 - 16381832;18285502 100302208 ABBA01054724;AC005696;AMYH01008017;NR_031654 MIRN1253;hsa-mir-1253 APPROVED miscrna ENSG00000221200 35318 PROVISIONAL 2946917 MIR1254-1 microRNA 1254-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 q21.3 63794985 63795081 + 70519075 70519171 + 16381832;18285502;21258252 100302273 ABBA01019588;AL513534;AMYH01002804;NR_031655 1736430;2117743 D14S1234;D14S693E MIR1254;MIRN1254;hsa-mir-1254;hsa-mir-1254-1 APPROVED miscrna 35319 PROVISIONAL 5133976 MIR1254-2 microRNA 1254-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 23682334 23682396 + 16381832;20733160 100616217 ABBA01034465;AL606469;AMYH01002188;NR_039606 APPROVED miscrna ENSG00000264574 41770 PROVISIONAL 2312957 MIR1257 microRNA 1257 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 57265183 57265299 - 60528602 60528718 - 16381832;18285502 100302168 ABBA01040114;AL109911;AMYH01012039;NR_031658 MIRN1257;hsa-mir-1257 APPROVED miscrna ENSG00000221417 35322 PROVISIONAL 2312967 MIR1256 microRNA 1256 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 19639960 19640078 - 21314807 21314925 - 16381832;18285502;23361059 100302155 ABBA01059798;AL627311;AMYH01000326;NR_031657 2172676 SHGC-17239 MIRN1256;hsa-mir-1256 APPROVED miscrna 35321 PROVISIONAL 3497331 MIR1255B2 microRNA 1255b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 1 1 141077154 141077220 + 167967898 167967964 + 16381832;18285502 100313835 AL031287;AMYH01001484;CH236947;NR_031702 MIR1255B-2;MIRN1255B2;hsa-mir-1255b-2 APPROVED miscrna 35367 PROVISIONAL 2312939 MIR1259 microRNA 1259 16381832;18285502 100302194 AL049766;NR_031660 MIRN1259;hsa-mir-1259 miscrna 35324 2974669 MIR1255A microRNA 1255a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 99550658 99550770 - 102251459 102251571 - 16381832;18285502 100302193 AMYH01014427;AP001816;NR_031656 MIRN1255A;hsa-mir-1255a APPROVED miscrna 35320 PROVISIONAL 2312955 MIR1258 microRNA 1258 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 q31.3 174319810 174319882 - 180725563 180725635 - 16381832;18285502;22488243 100302172 AC092642;AMYH01011309;NR_031659 MIRN1258;hsa-mir-1258 APPROVED miscrna ENSG00000221240 35323 614488 PROVISIONAL 2312908 MIR1260A microRNA 1260a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 57771200 57771272 + 77732561 77732633 + 16381832;18285502 100302236 ABBA01030656;AC007375;AMYH01005880;NR_031661 1736430;2117743 D14S1234;D14S693E MIR1260;MIRN1260;hsa-mir-1260;hsa-mir-1260a APPROVED miscrna ENSG00000221754 35325 PROVISIONAL 4108921 MIR1260B microRNA 1260b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 93374805 93374893 + 96074602 96074690 + 16381832;20300190;23591200 100422991 ABBA01040006;AMYH01003973;AP000848;NR_036125 APPROVED miscrna ENSG00000266192 38258 PROVISIONAL 1353053 MIR125A microRNA 125a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49246042 49246127 + 56888318 56888403 + 52196507 52196592 + 6480464 19048628;17400653;12007417;22550173;20569443;19702827;19818772;19875930;19881956;19950226;19411564;16381832;17604727;17616659;20665731;21788734;22644326;22690848;21220473;21317190;21777146;21931172;22322911;23079745;23327190;22747700;22768249;23595744 406910 ABBA01068265;AC018755;AMYH01009953;NR_029693 MIRN125A;miRNA125A APPROVED miscrna ENSG00000208008 31505 611191 PROVISIONAL 2312913 MIR1261 microRNA 1261 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 87902969 87903050 - 90602289 90602370 - 16381832;18285502;22566498 100302228 ABBA01040067;AMYH01003939;AP002782;NR_031663 MIRN1261;hsa-mir-1261 APPROVED miscrna ENSG00000221586 35327 PROVISIONAL 2312888 MIR1262 microRNA 1262 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 p31.3 66939844 66939936 - 68649201 68649293 - 16381832;18285502 100302279 ABBA01074511;AL513284;AMYH01000692;NR_031664 MIRN1262;hsa-mir-1262 APPROVED miscrna 35328 PROVISIONAL 2312971 MIR1263 microRNA 1263 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 q26.1 162289108 162289193 - 163889259 163889344 - 16381832;18285502 100302148 ABBA01058760;AC018457;AMYH01013624;NR_031665 MIRN1263;hsa-mir-1263 APPROVED miscrna ENSG00000221251 35329 PROVISIONAL 1342678 MIR125B2 microRNA 125b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.1 3132744 3132832 + 16884427 16884515 + 17962557 17962645 + 19471102;19048628;15722555;12007417;15800047;15978578;16381832;17604727;17616659;20158877;20460378;21879257;21562054;20658525 406912 ABBA01057101;AMYH01012144;AP000962;NR_029694 MIRN125B2 APPROVED miscrna ENSG00000207863 31507 610105 PROVISIONAL 2312902 MIR1264 microRNA 1264 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 114322328 114322396 + 113887130 113887198 + 16381832;16954537;18285502 100302251 ABBA01053596;AC007025;AC233299;AMYH01022851;NR_031563 1764671 SHGC-148260 MIRN1264;hsa-mir-1264 APPROVED miscrna 35246 PROVISIONAL 2312997 MIR1265 microRNA 1265 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 14406211 14406296 + 14478575 14478660 + 16381832;18285502 100302116 ABBA01034611;AL139405;AMYH01002051;NR_031668 MIRN1265;hsa-mir-1265 APPROVED miscrna ENSG00000221371 35332 PROVISIONAL 2312933 MIR1266 microRNA 1266 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 29463780 29463863 - 52569314 52569397 - 16381832;18285502 100302202 ABBA01039064;AC010674;AMYH01006650;NR_031670 MIRN1266;hsa-mir-1266 APPROVED miscrna 35334 PROVISIONAL 2946923 MIR1268A microRNA 1268a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 q11.2 14455362 14455392 + 22513229 22513280 - 16381832;18285502 100302233 ABBA01004292;AC025884;AMYH01006365;NR_031672 MIR1268;MIRN1268;hsa-mir-1268;hsa-mir-1268a APPROVED miscrna ENSG00000221641 35336 PROVISIONAL 1348236 MIR126 microRNA 126 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 q34.3 138684874 138684958 + 139565054 139565138 + 6480464 18602365;22012249;19116145;18834857;18773208;18663744;18474618;18227515;18193184;22525256;22510476;12007417;16381832;17604727;20621067;21086055;21464990;21483773;20953557;19223090;20034472;20083669;20889907;21046227;20651284;20671229;20619534;22874466;21163928;23285182;23144172;21304604;21439283;21249429;23595422;20423846;21264844;23142521;21269950;22170610;22064652;20680522;21856785;22719221;22740338;22688341;23396050;23136161;23378255;22867989;22900072;23029111 406913 ABBA01022716;AL590226;AMYH01021869;NR_029695 MIRN126;miRNA126 APPROVED miscrna 31508 611767 PROVISIONAL 1352829 MIR125B1 microRNA 125b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 q24.1 121475674 121475761 - 121970465 121970552 - 6480464 22024720;19471102;19048628;19047678;17622355;15722555;22550173;21166724;20306291;20347935;12007417;15800047;15978578;16381832;17604727;17616659;20158877;20889907;20485370;22469780;20460378;21703189;20549700;21118986;21399871;21412257;21444677;21903586;21806957;21935352;22093834;21785383;21880154;21913998;20658525;22693547;22723551;23146892;23591197 406911 ABBA01031297;AMYH01004094;AP001924;NR_029671 MIRN125B1 APPROVED miscrna ENSG00000207971 31506 610104 PROVISIONAL 2946910 MIR1267 microRNA 1267 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 89027299 89027376 - 108183519 108183596 - 16381832;18285502 100302286 ABBA01027033;AL445649;AMYH01005360;NR_031671 MIRN1267;hsa-mir-1267 APPROVED miscrna 35335 PROVISIONAL 2312949 MIR1270-1 microRNA 1270-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 20416172 20416254 - 20510081 20510163 - 16381832;18285502 100302179 ABBA01051352;AC078899;AMYH01009617;NR_036053 MIR1270;MIRN1270;hsa-mir-1270;hsa-mir-1270-1 APPROVED miscrna ENSG00000238517 35338 VALIDATED 4108873 MIR1270-2 microRNA 1270-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 20579240 20579322 - 16381832;18285502 100423024 AC008554;NR_036264 APPROVED miscrna ENSG00000221147 38387 VALIDATED 5134010 MIR1268B microRNA 1268b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 78072627 78072676 + 16381832;20733160 100616121 ABBA01015411;AC087741;AMYH01008692;NG_029761;NR_039607 APPROVED miscrna 41581 VALIDATED 2312951 MIR1269A microRNA 1269a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 64604326 64604430 + 67142542 67142646 + 16381832;18285502 100302177 AC110809;AMYH01014240;NR_031673 MIR1269;MIRN1269;hsa-mir-1269;hsa-mir-1269a APPROVED miscrna ENSG00000221563 35337 PROVISIONAL 2312945 MIR1272 microRNA 1272 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 41932045 41932173 - 65054586 65054714 - 16381832;18285502 100302184 ABBA01038873;AC091582;AMYH01006712;NR_031674 MIRN1272;hsa-mir-1272 APPROVED miscrna 35339 PROVISIONAL 2946927 MIR1271 microRNA 1271 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 q35 172707413 172707498 - 175794949 175795034 + 16381832;16954537;18285502;19508715 100302203 ABBA01033501;AC138956;AMYH01015859;NR_031569 MIRN1271;hsa-mir-1271 APPROVED miscrna 35252 PROVISIONAL 4109081 MIR1273C microRNA 1273c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 155908685 155908761 + 155174494 155174570 + 16381832;20300190;20224791 100422821 ABBA01025588;AL121952;AMYH01016758;NR_036100 APPROVED miscrna ENSG00000264814 38173 PROVISIONAL 1344992 MIR127 microRNA 127 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81403135 81403231 + 100419068 100419164 + 101349316 101349412 + 6480464 19287466;15891114;19530237;19946636;20889907;12007417;16381832;17604727;18230126 406914 ABBA01048516;AL117190;AMYH01006015;NR_029696 5492035 MARC_10877-10878:993140164:1 MIRN127;miRNA127 APPROVED miscrna ENSG00000207608 31509 611709 PROVISIONAL 5133848 MIR1273G microRNA 1273g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 53405986 53406085 + 16381832;21377523 100616145 ABBA01074749;AC099677;AMYH01000624;NR_039972 APPROVED miscrna 41684 PROVISIONAL 2974677 MIR1273A microRNA 1273a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 q22.2 97221716 97221818 - 101036210 101036312 - 16381832;18285502 100302165 ABBA01037561;AC021590;AMYH01018924;CH236949;NR_031675 1811194;1819366;1837848;1973816;1973818;1973820;1973822;1973824;1973826;1973828;1973830;1973832;1973834;1973836;1973838;2215288;2215290 ECD06595;ECD10750;ECD20094;REN57794;REN57795;REN57796;REN57797;REN57798;REN57799;REN57800;REN57801;REN57802;REN57803;REN57804;REN57805;stSG636633;stSG636634 MIR1273;MIRN1273;hsa-mir-1273;hsa-mir-1273a APPROVED miscrna 35340 PROVISIONAL 3497337 MIR1274A microRNA 1274a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 5 5 41364142 41364212 + 41475734 41475804 + 16381832;18285502 100313805 AC020940;NR_031676 MIRN1274A miscrna 35341 PROVISIONAL 5133877 MIR1269B microRNA 1269b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 12820585 12820659 - 16381832;20733160 100616494 ABBA01055010;AC005274;AMYH01008121;NR_039747 APPROVED miscrna ENSG00000265503 41787 PROVISIONAL 5133846 MIR1273F microRNA 1273f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 53394346 53394444 + 16381832;21377523 100616156 ABBA01074750;AC099677;AMYH01000624;NR_039971 APPROVED miscrna 41733 PROVISIONAL 2312992 MIR1275 microRNA 1275 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 35522110 35522189 - 33967749 33967828 - 6480464 16381832;18285502;22005931;22736761 100302123 ABBA01038165;AL589941;AMYH01016251;NR_031681 MIRN1275;hsa-mir-1275 APPROVED miscrna ENSG00000221697 35346 PROVISIONAL 2312994 MIR1276 microRNA 1276 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 q25.3 62713653 62713735 - 86313727 86313809 - 16381832;18285502 100302121 ABBA01052969;AC021739;AMYH01006897;NR_031682 MIRN1276;hsa-mir-1276 APPROVED miscrna ENSG00000221634 35347 PROVISIONAL 3476303 MIR1274B microRNA 1274b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 19 19 55067955 55068021 - 58024375 58024441 - 16381832;18285502 100313903 AC003005;NR_031693 MIRN1274B miscrna 35358 PROVISIONAL 4108940 MIR1273D microRNA 1273d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 28087713 28116323 - 10287776 10287861 + 16381832;20300190;22139419 100422970 ABBA01035594;AL358013;AMYH01000244;NR_036176 1337925;1667643;2128197;2172452;5093728 D14S1055;G32889;G36242;RH66200;SHGC-34775 APPROVED miscrna ENSG00000264881 38375 VALIDATED 2312907 MIR1281 microRNA 1281 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 25294880 25294933 + 41488517 41488570 + 16381832;18285502 100302237 ABBA01055620;AL080243;AMYH01012797;NR_031694 MIRN1281;hsa-mir-1281 APPROVED miscrna ENSG00000221160 35359 PROVISIONAL 2312935 MIR1280 microRNA 1280 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 126510451 126510544 + 128081008 128081101 + 16381832;18285502 100302200 AL449210;NR_031703 MIRN1280;hsa-mir-1280 APPROVED miscrna 35368 PROVISIONAL 2946926 MIR1277 microRNA 1277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q24 117975184 117975261 + 117520357 117520434 + 16381832;18285502 100302214 ABBA01036807;AL391803;AMYH01022874;NR_031685 MIRN1277;hsa-mir-1277 APPROVED miscrna 35350 PROVISIONAL 2312960 MIR1278 microRNA 1278 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 166215249 166215329 + 193105633 193105713 + 16381832;18285502 100302163 ABBA01027636;AL390863;AMYH01001593;NR_031691 MIRN1278;hsa-mir-1278 APPROVED miscrna 35356 PROVISIONAL 2312901 MIR1282 microRNA 1282 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 20975319 20975419 - 44085857 44085957 - 16381832;18285502 100302254 ABBA01039223;AC018512;AMYH01006607;NR_031695 1736810;1805904;1806380;1933712;1933714;1933716;1933718;1933720;1933722;1933724;1933726;1933728;1933730;1933732;2154049 D15S797;ECD03905;ECD04146;REN37689;REN37690;REN37691;REN37692;REN37693;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;RH41787 MIRN1282;hsa-mir-1282 APPROVED miscrna ENSG00000221792 35360 PROVISIONAL 1343624 MIR128-1 microRNA 128-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q21.3 130133728 130133809 + 136139436 136139517 + 136422967 136423048 + 6480464 19048628;18381601;18056805;12007417;15325244;16381832;17604727;19713529;19955085;20054641;20889907;21596314;21358821;21228036;22614013 406915 ABBA01028165;AC016742;AMYH01011123;NR_029672 MIR128A;MIRN128-1;MIRN128A microrna 128a APPROVED miscrna 31510 611774 PROVISIONAL 2312892 MIR1283-1 microRNA 1283-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 51232825 51232911 + 54191735 54191821 + 16381832;16954537;18285502 100302265 ABBA01068202;AC011453;AMYH01009964;NR_031573 MIRN1283-1;hsa-mir-1283-1 APPROVED miscrna ENSG00000221421 35255 PROVISIONAL 2312947 MIR1279 microRNA 1279 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 69330773 69330834 - 69666937 69666998 - 16381832;18285502 100302182 ABBA01026542;AC020656;AMYH01004564;NR_031692 MIRN1279;hsa-mir-1279 APPROVED miscrna 35357 PROVISIONAL 1347002 MIR128-2 microRNA 128-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p22.3 35727938 35728021 + 35760971 35761054 + 35785968 35786051 + 6480464 19048628;18056805;12624257;19713529;19749093;12007417;16381832;17604727;20237425;22193543 406916 ABBA01024877;AC016943;AJ550404;AMYH01013082;NR_029824 1787784 SHGC-173166 MIR128B;MIRN128-2;MIRN128B;mir-128b microrna 128b APPROVED miscrna 31511 611769 PROVISIONAL 2312932 MIR1283-2 microRNA 1283-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 51302588 51302674 + 54261486 54261572 + 16381832;18285502 100302205 ABBA01068200;AC011453;AMYH01009965;NR_031696 MIRN1283-2;hsa-mir-1283-2 APPROVED miscrna ENSG00000221548 35361 PROVISIONAL 2313000 MIR1284 microRNA 1284 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 71521736 71521855 - 71591121 71591240 - 16381832;18285502 100302112 ABBA01030936;AC097634;AMYH01013271;NG_028243;NR_031697 1848579 RH65612 MIRN1284;hsa-mir-1284 APPROVED miscrna ENSG00000221264 35362 VALIDATED 2946925 MIR1285-1 microRNA 1285-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 q21-q22 91833329 91833412 - 22294552;16381832;18285502 100302218 AACC02000014;ABBA01045807;AC000120;AMYH01017690;CH236949;NR_031616 2121847 SHGC-74178 MIRN1285-1;hsa-mir-1285-1 APPROVED miscrna 35277 VALIDATED 2312984 MIR1287 microRNA 1287 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 q24.2 93891626 93891715 - 100154975 100155064 - 16381832;18285502;19508715;21931564 100302133 ABBA01021778;AL139243;AMYH01002983;NR_031619 MIRN1287;hsa-mir-1287 APPROVED miscrna 35280 PROVISIONAL 2946916 MIR1285-2 microRNA 1285-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 70330740 70330827 - 70480050 70480137 - 16381832;18285502 100302268 ABBA01075531;AC016700;AMYH01010425;NG_029967;NR_031617 MIRN1285-2;hsa-mir-1285-2 APPROVED miscrna ENSG00000221238 35278 VALIDATED 2946915 MIR1290 microRNA 1290 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 17550881 17550958 - 19223565 19223642 - 16381832;18285502;22536353;23142292 100302276 ABBA01059749;AL080251;AMYH01000310;NR_031622 MIRN1290;hsa-mir-1290 APPROVED miscrna 35283 PROVISIONAL 2312990 MIR1289-1 microRNA 1289-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 30790370 30790513 - 34041776 34041919 - 16381832;18285502 100302125 ABBA01019160;AL121586;AMYH01011874;NR_031620 1811194;1819366;1837848;1973816;1973818;1973820;1973822;1973824;1973826;1973828;1973830;1973832;1973834;1973836;1973838 ECD06595;ECD10750;ECD20094;REN57794;REN57795;REN57796;REN57797;REN57798;REN57799;REN57800;REN57801;REN57802;REN57803;REN57804;REN57805 MIRN1289-1;hsa-mir-1289-1 APPROVED miscrna ENSG00000221763 35281 PROVISIONAL 2312983 MIR1289-2 microRNA 1289-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 128891349 128891459 - 132763288 132763398 - 16381832;18285502 100302134 ABBA01068778;AC010608;AMYH01015618;NR_031621 MIRN1289-2;hsa-mir-1289-2 APPROVED miscrna 35282 PROVISIONAL 2312919 MIR1291 microRNA 1291 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16381832;18285502;23598528 100302221 AC079951;NR_031623 MIRN1291;hsa-mir-1291 APPROVED miscrna 35284 PROVISIONAL 2312991 MIR1288 microRNA 1288 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 16088247 16088321 + 16185328 16185402 + 16381832;18285502 100302124 ABBA01035657;AC005971;AMYH01008147;NG_032651;NR_031698 MIRN1288;hsa-mir-1288 APPROVED miscrna 35363 VALIDATED 2312996 MIR1286 microRNA 1286 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 4087343 4087420 - 20236657 20236734 - 16381832;18285502 100302118 ABBA01005393;AC007663;AMYH01012486;NR_031618 MIRN1286;hsa-mir-1286 APPROVED miscrna 35279 PROVISIONAL 1347371 MIR129-2 microRNA 129-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p11.2 43749891 43749980 + 43559519 43559608 + 43602944 43603033 + 6480464 12624257;12007417;12554859;16381832;17604727;19887623;20331975;20404570;23402613;23307240;23406679;22536440;23251334 406918 ABBA01060777;AC068205;AJ550405;AMYH01003519;NR_029697 MIR-129b;MIRN129-2;mir-129-2 APPROVED miscrna 31513 PROVISIONAL 2312943 MIR1297 microRNA 1297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 35872634 35872710 - 54886107 54886183 - 16381832;18285502 100302187 ABBA01037050;AL512509;AMYH01005130;NR_031628 2168357 G09931 MIRN1297;hsa-mir-1297 APPROVED miscrna 35289 PROVISIONAL 2312920 MIR1293 microRNA 1293 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 49423696 49423766 - 50627925 50627995 - 16381832;18285502 100302220 AC008147;AMYH01004451;NG_029859;NR_031625 MIRN1293;hsa-mir-1293 APPROVED miscrna 35286 VALIDATED 2312950 MIR1295A microRNA 1295a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 144180773 144180851 - 171070869 171070947 - 16381832;18285502 100302178 ABBA01027935;AL021026;AMYH01001492;NR_031627 MIR1295;MIRN1295;hsa-mir-1295;hsa-mir-1295a APPROVED miscrna ENSG00000221390 35288 PROVISIONAL 2312981 MIR1292 microRNA 1292 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 2697886 2697951 + 2633423 2633488 + 16381832;18285502 100302138 ABBA01053795;AL049712;AMYH01011668;NG_032136;NR_031699 MIRN1292;hsa-mir-1292 APPROVED miscrna 35364 614155 VALIDATED 2312969 MIR1296 microRNA 1296 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 58400228 58400319 - 65132717 65132808 - 6480464 16381832;16954537;18285502;19508715;19820697;22001757 100302150 ABBA01019500;AC022022;AMYH01002778;NR_031566 MIRN1296;hsa-mir-1296 APPROVED miscrna 35249 PROVISIONAL 1350855 MIR129-1 microRNA 129-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.1 122651214 122651285 + 127635160 127635231 + 127847925 127847996 + 6480464 19487295;12007417;12554859;16381832;17604727;21960261;22536440;23307240 406917 AACC02000001;ABBA01057678;AC018662;AJ560751;AMYH01017915;CH236947;NR_029596 MIR-129b;MIRN129-1 APPROVED miscrna ENSG00000207705 31512 PROVISIONAL 2312931 MIR1300 microRNA 1300 q21.3 100302206 MIRN1300;hsa-mir-1300 miscrna 35291 2974676 MIR1299 microRNA 1299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 q12 69002239 69002321 - 16381832;18285502 100302167 ABBA01012985;AL353763;AMYH01021222;NR_031629 MIRN1299;hsa-mir-1299 APPROVED miscrna ENSG00000239070 35290 PROVISIONAL 2312905 MIR1301 microRNA 1301 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 25391771 25391852 - 25551509 25551590 - 22159405;16381832;16954537;18285502;19144710;19508715 100302246 ABBA01045146;AC012074;AMYH01010183;NG_029465;NR_031570 MIRN1301;hsa-mir-1301 APPROVED miscrna ENSG00000221445 35253 VALIDATED 4109070 MIR1302-10 microRNA 1302-10 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 102500662 102500799 - 16381832;18285502 100422834 AC140725;AMYH01006975;NR_036267 APPROVED miscrna ENSG00000221661 38233 VALIDATED 2312948 MIR1294 microRNA 1294 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 149802350 149802491 + 153726666 153726807 + 16381832;18285502 100302181 ABBA01026241;AC008625;AMYH01015729;NR_031626 MIRN1294;hsa-mir-1294 APPROVED miscrna 35287 PROVISIONAL 2946924 MIR1302-1 microRNA 1302-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 q24 112759919 112760061 - 113132839 113132981 - 16381832;18285502 100302227 ABBA01019940;AC004104;AMYH01004756;NR_031631 2109683 POFUT1_9356 MIRN1302-1;hsa-mir-1302-1 APPROVED miscrna ENSG00000221560 35293 PROVISIONAL 6483948 MIR1295B microRNA 1295b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 171070880 171070939 + 16381832;21911355 100847009 ABBA01027935;AL021026;AMYH01001492;NR_049854 miscrna 43524 PROVISIONAL 2312987 MIR1302-3 microRNA 1302-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 q13 114340536 114340673 - 16381832;18285502 100302128 AL078621;AMYH01010967;NR_031632 MIRN1302-3;hsa-mir-1302-3 APPROVED miscrna ENSG00000221055 35295 PROVISIONAL 2974683 MIR1302-4 microRNA 1302-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 201895460 201895609 - 208133999 208134148 - 16381832;18285502 100302130 ABBA01062677;AC007879;AMYH01011446;NR_031633 MIRN1302-4;hsa-mir-1302-4 APPROVED miscrna ENSG00000221628 35296 PROVISIONAL 2312889 MIR1302-2 microRNA 1302-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 30366 30503 + 16381832;18285502 100302278 AL627309;NR_036051 2169203;2169205 A005M06;G20325 MIRN1302-2;hsa-mir-1302-2 APPROVED miscrna 35294 VALIDATED 2312968 MIR1298 microRNA 1298 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 114384841 114384952 + 113949650 113949761 + 16381832;16954537;18285502 100302153 ABBA01053601;AC004822;AC233299;AMYH01022851;NR_031578 MIRN1298;hsa-mir-1298 APPROVED miscrna ENSG00000221710 35258 PROVISIONAL 2312973 MIR1302-5 microRNA 1302-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 45935464 45935613 - 49231173 49231322 - 16381832;18285502 100302146 ABBA01052781;AL133230;AMYH01011973;NR_031634 MIRN1302-5;hsa-mir-1302-5 APPROVED miscrna 35297 PROVISIONAL 2312979 MIR1302-6 microRNA 1302-6 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 p21.1 18146538 18146627 - 18166843 18166932 - 16381832;18285502 100302140 AACC02000007;ABBA01056649;AC005249;AMYH01017097;CH236948;NR_031635 MIRN1302-6;hsa-mir-1302-6 APPROVED miscrna ENSG00000221393 35298 PROVISIONAL 4108988 MIR1302-11 microRNA 1302-11 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 71973 72110 + 16381832;18285502 100422919 AC008993;AMYH01019167;NR_036268 APPROVED miscrna 38246 PROVISIONAL 2312917 MIR1302-8 microRNA 1302-8 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 70640194 70640321 - 100125836 100125963 - 16381832;18285502 100302223 ABBA01042933;AL512590;AMYH01021553;NR_031637 MIRN1302-8;hsa-mir-1302-8 APPROVED miscrna ENSG00000221269 35300 PROVISIONAL 4109072 MIR1302-9 microRNA 1302-9 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 30144 30281 + 16381832;18285502 100422831 AL928970;NR_036266 APPROVED miscrna ENSG00000221292 38218 PROVISIONAL 2946912 MIR1303 microRNA 1303 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 150142338 150142422 + 154065336 154065421 + 16381832;18285502 100302284 ABBA01026230;AC008379;AMYH01015730;NR_031638 MIRN1303;hsa-mir-1303 APPROVED miscrna ENSG00000221552 35301 PROVISIONAL 2946920 MIR1304 microRNA 1304 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 90758292 90758382 - 93466840 93466930 - 16381832;18285502 100302240 ABBA01040043;AMYH01003959;AP001273;NR_031639 MIRN1304;hsa-mir-1304 APPROVED miscrna ENSG00000221170 35302 PROVISIONAL 2312972 MIR1302-7 microRNA 1302-7 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 139175562 139175633 - 142867603 142867674 - 16381832;18285502 100302147 ABBA01029384;AC144407;AMYH01019080;NR_031636 2168357 G09931 MIRN1302-7;hsa-mir-1302-7 APPROVED miscrna 35299 PROVISIONAL 2312953 MIR1307 microRNA 1307 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 98893943 98894091 - 105154010 105154158 - 16381832;18285502;19144710 100302174 ABBA01063100;AL591408;AMYH01003026;NR_031707 MIRN1307;hsa-mir-1307 APPROVED miscrna ENSG00000221767 35372 PROVISIONAL 2946919 MIR1308 microRNA 1308 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] p22.2-p22.1 16381832;18285502 100302266 NR_031704;Y10196 MIRN1308;hsa-mir-1308 miscrna 35369 2312891 MIR1305 microRNA 1305 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 q34.3 180421966 180422051 + 183090446 183090531 + 16381832;18285502 100302270 ABBA01070488;AC108142;AMYH01014757;NR_031640 MIRN1305;hsa-mir-1305 APPROVED miscrna ENSG00000221227 35303 PROVISIONAL 2974674 MIR1321 microRNA 1321 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q21.2 85330369 85330447 + 85090785 85090863 + 16381832;18230126 100302171 ABBA01051719;AL022401;AMYH01022662;NR_031710 MIRN1321;hsa-mir-1321 APPROVED miscrna 35373 PROVISIONAL 2312958 MIR1322 microRNA 1322 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 9810916 9810986 - 10682883 10682953 - 16381832;18230126;20686565 100302166 ABBA01026888;AC011008;AMYH01018478;NR_031711 MIRN1322;hsa-mir-1322 APPROVED miscrna 35374 PROVISIONAL 2312937 MIR1306 microRNA 1306 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 3925633 3925717 + 20073581 20073665 + 16381832;18285502 100302197 ABBA01005395;AC006547;AMYH01012483;NR_031706 MIRN1306;hsa-mir-1306 APPROVED miscrna 35371 PROVISIONAL 2312925 MIR1324 microRNA 1324 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 76423649 76423744 + 75679914 75680009 + 16381832;18230126 100302212 ABBA01030989;AC108724;AMYH01013292;NR_031714 MIRN1324;hsa-mir-1324 APPROVED miscrna ENSG00000221795 35377 PROVISIONAL 2312900 MIR1323 microRNA 1323 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 q13.42 51216313 51216385 + 54175222 54175294 + 16381832;16954537;18230126 100302255 ABBA01068202;AC011453;AMYH01009964;NR_031568 MIRN1323;hsa-mir-1323 APPROVED miscrna ENSG00000221017 35251 PROVISIONAL 1346883 MIR132 microRNA 132 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 1969847 1969947 - 1899951 1900051 - 1953202 1953302 - 6480464 18759964;18577589;17553428;20418869;12007417;16381832;17604727;17616659;21329664;19819989;20167074;20676106;22310291;21665894;21807765;21853268;22077060;22315408;23357732;23264652 406921 ABBA01054688;AC090617;NR_029674 MIRN132;miRNA132 APPROVED miscrna ENSG00000207724;ENSG00000267200 31516 610016 PROVISIONAL 1347329 MIR130A microRNA 130a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q12.1 54765156 54765244 + 57165246 57165334 + 57408671 57408759 + 6480464 22334710;16549775;22614869;20625274;12007417;15183728;16381832;17604727;17616659;22846564;20888330;21135128;23136161;23302469;21712254;22128589;22028478;22350415;21706050;22455133;22391564;22787204 406919 ABBA01021474;AMYH01003652;AP000662;NR_029673 MIRN130A;miRNA130A APPROVED miscrna ENSG00000208009 31514 610175 PROVISIONAL 1344051 MIR130B microRNA 130b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 5825133 5825214 + 20337592 20337673 + 22007593 22007674 + 6480464 17573714;18974142;12624257;12919684;15634332;15800047;16381832;17604727;17616659;21537871;21761344;22005523;23144465 406920 ABBA01055056;AJ550406;AMYH01012636;AP000553;NR_029845 MIRN130B;mir-130b APPROVED miscrna ENSG00000207751 31515 613682 PROVISIONAL 1352770 MIR133A1 microRNA 133a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q11.2 16211722 16211809 - 17659656 17659743 - 19405659 19405746 - 16731620;22308266;21351259;20520763;12007417;16381832;17604727;20075508;20468068;23069713;21396852;21645416;22266319;21642241;22378351;22407299;22713968;23154637;22452920;22877943;20843712 406922 ABBA01022670;AC103987;AMYH01008876;NG_033272;NR_029675 1675551 RH94015 MIRN133A1 APPROVED miscrna ENSG00000207786 31517 610254 PROVISIONAL 1343982 MIR133A2 microRNA 133a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 57872455 57872556 + 60572563 60572664 + 61162119 61162220 + 16731620;20075508;20468068;20889907;12007417;16381832;17604727;22766685 406923 ABBA01012316;AL449263;AMYH01012058;NR_029676 MIRN133A2 APPROVED miscrna 31518 610255 PROVISIONAL 1352188 MIR133B microRNA 133b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p12.2 53674858 53674976 + 52121679 52121797 + 52013721 52013839 + 6480464 22308266;22179829;17761882;12624257;21351259;20029200;19654003;20075508;20468068;16381832;17604727;20505319;22883469;21645416;21637854;21573504;22532850;22407299;22713968;23296701 442890 ABBA01050561;AJ550407;AL391221;AMYH01016349;NR_029903 MIRN133B;miRNA133B;mir-133b APPROVED miscrna ENSG00000199080 31759 610946 PROVISIONAL 1349910 MIR136 microRNA 136 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81404861 81404942 + 100420791 100420872 + 101351039 101351120 + 6480464 15891114;12007417;15183728;16381832;17604727;22967897 406927 ABBA01048516;AL117190;AMYH01006015;NR_029699 MIRN136;miRNA136 APPROVED miscrna ENSG00000207942 31522 611710 PROVISIONAL 1348256 MIR135A2 microRNA 135a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q23.1 97623232 97623331 + 96481720 96481819 + 97957590 97957689 + 6480464 12007417;15183728;16381832;17604727;22747683;12624257 406926 ABBA01053300;AC018659;AJ550408;AMYH01004685;NR_029678 MIRN135-2;MIRN135A2 APPROVED miscrna ENSG00000207586 31521 PROVISIONAL 1349234 MIR135A1 microRNA 135a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.1 52307558 52307647 - 52303274 52303363 - 52328235 52328324 - 18632633;22139076;19666866;19944075;12007417;15183728;16381832;17604727;21888875;23017832 406925 AC092045;AMYH01013183;NR_029677 MIRN135-1;MIRN135A1 APPROVED miscrna ENSG00000207926 31520 PROVISIONAL 1345919 MIR137 microRNA 137 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p21.3 96765320 96765421 - 98284213 98284314 - 98511626 98511727 - 6480464 18695884;21425146;21051724;12007417;16381832;17604727;18316599;20197299;21926974;22406049;20600988;21278922;22722712;21221794;23178914;21994399;22703336;23201162;22003227;22446413;21943223;22182936;22982201;22895557;23178712;23151846;23275153;22850735;23453885 406928 ABBA01045470;AC104453;AMYH01000819;NR_029679 MIRN137;miR-137 APPROVED miscrna ENSG00000207958 31523 614304 PROVISIONAL 1349548 MIR135B microRNA 135b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 178552602 178552698 - 203684052 203684148 - 205417430 205417526 - 6480464 12624257;19795981;14691248;15634332;16381832;17604727;17616659;23143558;22042699 442891 ABBA01027415;AC098936;AMYH01001670;NR_029893 MIRN135B APPROVED miscrna ENSG00000199059 31760 PROVISIONAL 5134042 MIR1343 microRNA 1343 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 34963384 34963467 + 16381832;21199797 100616437 ABBA01060863;AL138810;AMYH01003489;NR_039836 APPROVED miscrna 41902 PROVISIONAL 1347046 MIR134 microRNA 134 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81577085 81577157 + 100590776 100590848 + 101521024 101521096 + 6480464 16421561;22683779;12007417;15183728;15891114;16381832;17604727;20546789;23010597;22259016 406924 ABBA01048514;AL132709;AMYH01006017;NR_029698 MIRN134 APPROVED miscrna 31519 610164 PROVISIONAL 1354224 MIR138-1 microRNA 138-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.32 44093960 44094058 + 44130707 44130805 + 44155704 44155802 + 6480464 22853952;21444814;16381832;17604727;17616659;19540661;21079996;22766839;23300839;21693595;21875287;23562653;22739938 406929 AC006058;AMYH01013118;NR_029700 2127529 SHGC-60181 MIRN138-1 APPROVED miscrna ENSG00000207954 31524 613394 PROVISIONAL 1353953 MIR140 microRNA 140 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 q22.1 54482297 54482396 + 68524484 68524583 + 69966984 69967083 + 6480464 16828749;22547066;12007417;15800047;16381832;17604727;17616659;19714579;19734943;19948051;19950226;20167074;20358594;23060440;22452920;21798241;21720209;22273691;22012839;22445758;22052544;22898998;22773691 406932 ABBA01025546;AC026468;AMYH01007771;NR_029681 MIRN140;miRNA140 APPROVED miscrna 31527 611894 PROVISIONAL 1345345 MIR141 microRNA 141 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.31 8694279 8694373 + 6943520 6943614 + 7073260 7073354 + 6480464 21238947;19363643;18381893;19830559;20514023;12007417;14573789;16381832;17604727;17616659;20053927;20084174;20967756;21289630;21445232;21723797;21726338;21827717;22101765;22384255;22314666;22479552 406933 ABBA01017670;AMYH01004212;NR_029682;U47924 MIRN141 APPROVED miscrna ENSG00000207708 31528 612093 PROVISIONAL 1350565 MIR138-2 microRNA 138-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 q13 41391689 41391772 + 55449930 55450013 + 56892430 56892513 + 19540661;12007417;16381832;17604727;17616659;21079996;21168126 406930 ABBA01025251;AC012181;AMYH01007693;NR_029680 MIRN138-2 APPROVED miscrna ENSG00000207649 31525 613395 PROVISIONAL 1354349 MIR139 microRNA 139 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.4 69630648 69630715 - 72003754 72003821 - 72326107 72326174 - 6480464 12007417;16381832;17604727;20951699;20167074;20889907;21471143;21925125;22580051;22642900;22452920 406931 ABBA01017535;AMYH01003795;AP003065;NR_029603 MIR139-3p;MIRN139 APPROVED miscrna 31526 615017 PROVISIONAL 1342882 MIR142 microRNA 142 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q22 52870375 52870461 - 53763591 53763677 - 56408593 56408679 - 6480464 21979877;17972953;22493297;20856265;12007417;14573789;15325244;16381832;17604727;22958478;21482222;21678057;21347785;21882196;22367739;23581416;22549634;23209550 406934 ABBA01041333;AC004687;AJ535836;AMYH01008512;NR_029683 MIRN142 APPROVED miscrna ENSG00000207567 31529 PROVISIONAL 1346221 MIR143 microRNA 143 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 q32 148788673 148788778 + 148808481 148808586 + 6480464 19472311;19439999;19242066;19190970;19137007;17616659;15504739;21790228;21943005;21453382;20620599;21550168;21197560;20363096;20094072;12007417;14573789;16381832;17604727;20158877;19638978;19855844;20167074;20525177;21159816;22876303;22093444;21218087;21712382;20809117;23070684;23104321;21701675;21693658;21647377;22751122;22354042;21518477;21711110;22549179;22804917;21557394;21673106;21685392;22160209;22327366;21706045;22108519;22194833;22593586;22457808;22533346;23339192;22330136;23376635;22469988;22836856;22948942;23269581;22691140;23476055;23276710;23321517 406935 ABBA01026306;AC131025;AJ535834;AMYH01015700;NR_029684 MIRN143 APPROVED miscrna ENSG00000208035 31530 612117 PROVISIONAL 1350288 MIR144 microRNA 144 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 24047975 24048060 - 24212676 24212761 - 27188551 27188636 - 6480464 18303114;20451302;12007417;16381832;17604727;20709907;22955854;21367459;23226399;21829658;21863218;23546882;23125220;22983984 406936 ABBA01015038;AC024267;AMYH01008285;NR_029685 MIRN144 APPROVED miscrna ENSG00000207618 31531 612070 PROVISIONAL 5686952 MIR137HG MIR137 host gene (non-protein coding) 1 p21.3 98453556 98515249 - 14702039;16344560;23453885;21926974 400765 Q8NAG1 ABBA01045469;ABBA01045470;AC104453;AK092728;AK094607;AMYH01000819;BX005019;DA791600;NR_046105 BAC03958 Hs.451802 FLJ35409 miscrna ENSG00000225206 42871 16937 VALIDATED 2312998 MIR1468 microRNA 1468 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 63352733 63352818 - 63005882 63005967 - 6480464 20640596;16381832;16954537;18402656;20845080 100302115 ABBA01066823;AL451106;AMYH01022492;NR_031567 1736810;1805904;1806380;1933712;1933714;1933716;1933718;1933720;1933722;1933724;1933726;1933728;1933730;1933732;2154049;2209092 D15S797;ECD03905;ECD04146;REN37689;REN37690;REN37691;REN37692;REN37693;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;RH41787;stSG627952 MIRN1468;hsa-mir-1468 APPROVED miscrna ENSG00000222532 35250 PROVISIONAL 2312897 MIR1469 microRNA 1469 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 q26.2 73292691 73292737 + 96876490 96876536 + 6480464 16381832;18402656 100302258 ABBA01032422;AC016251;AMYH01006951;NR_031715 MIRN1469;hsa-mir-1469 APPROVED miscrna 35378 PROVISIONAL 1353686 MIR145 microRNA 145 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 q32 148790401 148790488 + 148810209 148810296 + 6480464 19439999;19409607;19391107;19360360;19289845;19242066;17827156;22431718;20094072;21351259;21453382;21943005;20370992;20717966;20809117;21092188;12007417;14573789;15978578;16381832;17604727;20588276;19493678;19843336;19898489;19915607;19996288;20098684;20130213;20160723;20230625;20382729;19730444;20818426;20525177;20687965;20889907;21159816;21218087;21365617;21701675;21479367;21111732;22722712;22752669;22864280;21349819;22093444;21258769;21289483;21496429;23063121;21647377;23199328;23104321;21712382;21836381;21873545;22102413;22108519;22200372;21945499;23436935;21673106;21685392;22327366;23499894;23334650;23339529;23457217;23499891;21900452;21557394;22457808;22378186;22472569;22370881;22389628;22592534;22330136;22452920;22370644;23312222;23049906;23201159;23339192;23166305;22751122;23390502;22948942;22287315;22766504;22869051;23468503;23476055;23480797;23028672;23118427 406937 ABBA01026306;AC131025;AJ535835;AMYH01015700;NR_029686 MIRN145;miR-145;miRNA145 APPROVED miscrna ENSG00000207700 31532 611795 PROVISIONAL 2312988 MIR1470 microRNA 1470 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 p13.12 15456006 15456066 + 15560359 15560419 + 16381832;18402656 100302127 ABBA01051114;AC011492;AMYH01009553;NR_031716 MIRN1470;hsa-mir-1470 APPROVED miscrna ENSG00000269782 35379 PROVISIONAL 2312989 MIR1471 microRNA 1471 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 226520187 226520243 - 232756952 232757008 - 16381832;18402656 100302126 ABBA01002031;AC013435;AMYH01011563;NR_031717 MIRN1471;hsa-mir-1471 APPROVED miscrna ENSG00000222246 35380 PROVISIONAL 1347864 MIR147A microRNA 147a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.2 93655601 93655672 - 122047077 122047148 - 123007257 123007328 - 12007417;16381832;20339536;22333974 406939 ABBA01016252;AL592549;AMYH01021687;NR_029604 MIR147;MIRN147;hsa-mir-147a APPROVED miscrna ENSG00000207814 31534 PROVISIONAL 5490463 MIR143HG MIR143 host gene (non-protein coding) 5 5 q32 148743536 148790387 + 148786440 148812399 + 6480464 14702039;19730444;21159816 728264 ABBA01026306;AC131025;AK093957;AK126481;AL137734;AMYH01015700;CR933654;GQ292874;HQ848934;HQ848935;NR_027180 Hs.519666 1664601;1690572;1726775;1765135;1776055;2161754;5014051;5020740;5024413;5037552;5109281 D1S1425;D8S2278;D8S2279;G16889;G62777;L17809;L17877;RH17475;RH91919;SGC32896;SHGC-148655 DKFZp586C0721;DKFZp781L018;FLJ36638 miscrna 42872 PREDICTED 1344673 MIR146A microRNA 146a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 q34 159844936 159845034 + 159912359 159912457 + 6480464 17622355;16885212;19514064;19333945;19333922;19190326;19167348;19164563;19138993;19048628;19014482;18801740;18759964;18711148;18660546;18568019;18474871;18390754;18383392;18057241;21529907;22593544;22614176;22893469;22927641;21347720;21902575;22182931;22218224;22455393;20585341;20653068;20680470;20721625;12007417;15800047;16381832;17604727;20181935;20577838;20214679;20375304;20451497;16365291;19411858;19540598;19840932;19847796;19881472;19898489;19902466;19944095;19954362;19965651;20011700;20053980;20110513;20124483;20188071;20384865;20488170;20500689;20549817;20542134;22139425;20195282;20417706;20525168;20937840;20732906;20810544;20842445;20848167;21073609;20934487;21178010;21968601;20952466;21263019;21738483;21236257;21329689;21529448;20640596;20647767;21472990;21345130;21249428;21555486;22535496;22823586;21469088;21637771;21632853;21511256;21807077;22957494;23222547;23343627;21610143;21624236;21885871;22043907;21744077;21810022;21978540;22033216;21773870;21887328;22048267;22761848;21354921;21640790;22020746;21861697;22480686;21987229;22295894;22348245;20017139;22355253;22048026;22161865;22453030;22708826;21947843;21947847;22363684;22876745;22719192;22843060;23345523;22578600;23007982;23262343;22311263;23295264;23435376;22952151;22699322;23018031;23267167;23202363;22768213;23528241;22161766;23020128;23292505;23619365;22006119;22711166;22992343;22882355;23027628;23028621 406938 ABBA01044218;AC091842;AMYH01015760;NR_029701 MIRN146;MIRN146A;miR-146a;miRNA146A microrna 146 APPROVED miscrna ENSG00000207936 31533 610566 PROVISIONAL 1603775 MIR146B microRNA 146b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q24.32 97937172 97937244 + 104186258 104186330 + 104196269 104196341 + 6480464 21472990;22728346;19265686;19190326;16885212;15965474;16381832;17604727;20406109;19584273;18504431;20874002;22393448;21537871;21789255;21874046;23264400 574447 ABBA01063157;AL121928;AMYH01003017;AY882276;NR_030169 MIRN146B;miRNA146B APPROVED miscrna ENSG00000202569 32079 610567 PROVISIONAL 1345628 MIR151A microRNA 151a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 137911117 137911206 - 141811844 141811933 - 141742663 141742752 - 6480464 17599088;22489664;20305651;14691248;15634332;15978578;16381832;17604727;17616659;21456068;22909203 442893 ABBA01013677;AC105235;AMYH01019069;NG_029467;NR_029892 MIR151;MIRN151;hsa-mir-151;hsa-mir-151a APPROVED miscrna 31762 VALIDATED 5133856 MIR151B microRNA 151b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 100575756 100575851 - 16381832;16954537;20733160 100616247 ABBA01048541;AL133523;AMYH01006003;NR_039601 APPROVED miscrna ENSG00000265154 41588 PROVISIONAL 1351245 MIR148B microRNA 148b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q13.13 54382994 54383092 + 53017266 53017364 + 54731000 54731098 + 6480464 22344713;22020560;12624257;21205300;14691248;15634332;16381832;17604727;17616659;23171948;22927033;22362909;22843616;23233531 442892 ABBA01008370;AC078778;AJ550409;AMYH01004488;NR_029894 MIRN148B;mir-148b APPROVED miscrna 31761 613787 PROVISIONAL 1342949 MIR150 microRNA 150 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.33 46873383 46873466 - 54695853 54695936 - 50004042 50004125 - 6480464 22025269;18682393;18667440;17438277;12007417;16381832;17604727;20218812;20603081;19615744;19823581;20067763;20075508;20460641;21502955;21551231;21761366;21983127;23079661;22048267;22048026;22595456;23159943;23220912;23326587;23228962;23372743;23013135;22052060;23211718 406942 ABBA01032923;AC010619;AMYH01009912;NR_029703 MIRN150;miRNA150 APPROVED miscrna ENSG00000207782 31537 611114 PROVISIONAL 1342659 MIR149 microRNA 149 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q37.3 235067336 235067424 + 241044090 241044178 + 241395418 241395506 + 6480464 19514064;21902575;20623644;12007417;16381832;17604727;17616659;19881472;19950226;20549817;22714913;21976437;22821729;21671485;21896753;21978395;21873783;22583825;23272122;23115050;23298478;23202363;22161766;22882355 406941 ABBA01048871;AC110619;AMYH01011622;NR_029702 1781316 G31176 MIRN149 APPROVED miscrna 31536 615209 PROVISIONAL 2312980 MIR1537 microRNA 1537 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 209259618 209259678 - 236016300 236016360 - 16381832;18524951;20300190 100302139 ABBA01033145;AL133286;AMYH01001850;NR_031718 MIRN1537;hsa-mir-1537 APPROVED miscrna ENSG00000222831 35381 PROVISIONAL 1349588 MIR152 microRNA 152 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q21.32 42567346 42567432 - 46114527 46114613 - 6480464 22295098;22095477;20578129;12007417;16381832;17604727;17616659;20158877;20574809;21327300;21868754;21971665;22438923;23125218;23238588;23460133 406943 ABBA01041151;AC004477;AMYH01008451;NR_029687 MIRN152 APPROVED miscrna 31538 613788 PROVISIONAL 2312995 MIR1538 microRNA 1538 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 54114285 54114345 - 69599711 69599771 - 16381832;18524951 100302119 ABBA01025531;AC009032;AMYH01007768;NG_029600;NR_031719 2172676 SHGC-17239 MIRN1538;hsa-mir-1538 APPROVED miscrna ENSG00000223109 35382 VALIDATED 2312898 MIR1539 microRNA 1539 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 43869098 43869147 + 47013743 47013792 + 16381832;18524951 100302257 ABBA01018653;AC100778;AMYH01008990;NR_031720 MIRN1539;hsa-mir-1539 APPROVED miscrna ENSG00000222690 35383 PROVISIONAL 1352876 MIR153-2 microRNA 153-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q36.3 151793425 151793511 - 157059788 157059874 - 157367028 157367114 - 21764280;12007417;16381832;17604727;20889907;23188671 406945 AACC02000070;ABBA01032346;AC006372;AMYH01018194;CH236954;NG_029966;NR_029689 2149402 GDB:1317804 MIRN153-2 APPROVED miscrna 31540 VALIDATED 1347166 MIR153-1 microRNA 153-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q35 213928676 213928765 - 219867076 219867165 - 220158833 220158922 - 21764280;12007417;16381832;17604727;22722712;23060044;23188671 406944 ABBA01023843;AC114803;AMYH01011507;NG_029546;NR_029688 1744399 GDB:452693 MIRN153-1 APPROVED miscrna 31539 VALIDATED 2290243 MIR147B microRNA 147b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q21.1 22616667 22616746 + 43512539 43512618 + 45725248 45725327 + 6480464 16381832;17604727 100126311 ABBA01039183;AC025580;AMYH01006618;NR_030599 1651349 RH106 MIRN147B APPROVED miscrna ENSG00000211519 33655 PROVISIONAL 5133960 MIR1587 microRNA 1587 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 39696815 39696867 + 16381832;20733160 100616251 ABBA01046903;AL592164;AMYH01022218;NR_039763 APPROVED miscrna ENSG00000263972 41596 PROVISIONAL 1346027 MIR148A microRNA 148a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p15.2 25978394 25978461 - 25956063 25956130 - 25989539 25989606 - 6480464 21552422;12007417;15978578;16381832;17604727;20406806;20644734;20820187;21081659;21499264;21168126;20628822;21994419;21327300;21455217;21971665;22438923;22496917;23056401;23321675;23383211;22167392 406940 AACC02000007;AC010719;AMYH01017123;CH236948;NR_029597 MIRN148;MIRN148A;hsa-mir-148 APPROVED miscrna ENSG00000199085 31535 613786 PROVISIONAL 1350378 MIR155HG MIR155 host gene (non-protein coding) MicroRNAs (miRNAs), such as miRNA155, are endogenous noncoding RNAs of about 22 nucleotides that regulate mRNAs by targeting them for cleavage or translational repression. The primary miRNA transcript containing the mature miRNA155 sequence, pri-miRNA155, is also referred to as BIC (Kluiver et al., 2005 [PubMed 16041695]).[supplied by OMIM, Mar 2008] 21 21 25868162 25868226 + 26934457 26947480 + 18676680;18354490;18048365;16252262;16041695;15738415;14695998;12661002;12426003;11675008;18383392;18191785;17668390;17588946;16675453;19170196;19625176;19692168;21296997;23246696 114614 AA810953;ABBA01057209;AF402776;AL109616;AMYH01012174;AP000223;AP001693;BG231961;CT000653;EU375836;NR_001458 Hs.697120 1690318;2186436 RH93614;SHGC-87512 BIC;MIRHG2;NCRNA00172 APPROVED miscrna ENSG00000234883 35460 VALIDATED 2299183 MIR155 microRNA 155 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 q21.3 26946292 26946356 + 6480464 19386588;19289845;19234151;19193853;19106647;18940871;18926796;18759964;18753206;18383392;18354490;18191785;18048365;17668390;16252262;16041695;15738415;14695998;20388420;22715471;22609116;22728346;20966899;21383199;20332664;20427544;20889907;20370992;12007417;15325244;15634332;16381832;17604727;17616659;17989717;20950585;19268705;19446359;19538740;19551852;19578755;19641183;19701459;19777054;19887047;19890474;19954362;20041145;20133617;20201617;20219467;20351277;20354188;20371610;20452491;20209161;22139425;22268450;22541087;22681934;20844043;20673989;20947507;21036908;21097505;21282106;21412018;21195055;20952466;21234519;21219656;21690378;21706480;21813606;23108656;23166327;23166356;21806946;21296997;21385848;21466664;21541331;21515911;21304824;22511990;22924844;23302469;23580661;21762626;20550618;21176560;22048267;22071603;22037148;21762537;21863027;21989846;22354042;22378844;21802214;21703910;21807897;23185331;23334650;21750860;21831295;23616573;22096245;22139839;22113482;22122052;22445295;21982894;22350414;22182977;22245916;22307849;22426647;22470130;22558995;21987229;22508041;21756067;22578600;22105810;22891887;22652783;22348515;22982040;23264052;22562822;23028330;23071695;23174997;22736789;22942255;22996741;22249254;22815348;22957494;23288924;23601686;23209550;23523916;23524258;22006119;23250986 406947 ABBA01057209;AMYH01012174;AP000223;NR_030784 MIRN155;miRNA155 APPROVED miscrna ENSG00000207795 31542 609337 PROVISIONAL 1343557 MIR154 microRNA 154 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81582153 81582236 + 100595844 100595927 + 101526092 101526175 + 6480464 23043088;12007417;15183728;15891114;16381832;17604727;20167074;20889907;22456620 406946 ABBA01048514;AL132709;AMYH01006017;NR_029704 MIRN154 APPROVED miscrna ENSG00000207978 31541 PROVISIONAL 1354361 MIR15A microRNA 15a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 q14.2 49521255 49521337 - 50623255 50623337 - 6480464 19549910;19401561;19347735;19148136;18818396;18449891;18362358;16166262;11679670;22139073;18708755;20621999;12434020;12554860;15325244;16381832;17604727;17616659;19779621;19883312;19903841;20031211;20060366;19498445;20876285;20884628;22959509;22033921;22049078;21205891;21454377;21712053;22684875;21472816;21575235;21778430;22249219;21532615;22096249;21534877;22002311;22133358;23176145;23104180;23233752;22463747;22781767;22922827;22574716 406948 ABBA01051034;AJ421733;AL137060;AMYH01005112;NR_029485 5021944 Mirn16-1 MIRN15A;hsa-mir-15a;miRNA15A APPROVED miscrna 31543 609703 PROVISIONAL 1343014 MIR15B microRNA 15b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q25.33 158543743 158543840 + 161605069 161605166 + 160122376 160122473 + 6480464 19135980;12007417;12554860;14573789;16381832;17604727;17616659;19956871;21725369;22045185;22613985 406949 ABBA01058796;AC024221;AJ535833;AMYH01013615;NR_029663 MIRN15B;hsa-mir-15b;miR-15b APPROVED miscrna 31544 PROVISIONAL 1346096 MIR16-1 microRNA 16-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 q14.2 49521109 49521197 - 50623109 50623197 - 6480464 21336967;19401561;19347735;19148136;19144909;18854308;18759964;18483394;18449891;18362358;16166262;22677435;22139073;21400525;11679670;11914277;12434020;12624257;14573789;15183728;15325244;16381832;17604727;17616659;18708755;19250063;19779621;19865490;19883312;20060366;19498445;20626035;20876285;20621999;21205891;21454377;22940131;23233752;20647767;22959509;22684875;21472816;21575235;21602527;21885851;21130495;21532615;22096249;23175429;21354921;21778999;22033921;22049078;22133358;22049153;22249219;22002311;22292036;23226427;23507142;23260326;23325924;22583478;22922827;22574716;22781767;23104180 406950 ABBA01051034;AF480551;AJ421734;AL137060;AMYH01005112;NR_029486 5021944 Mirn16-1 MIRN16-1;miRNA16-1 APPROVED miscrna ENSG00000208006 31545 609704 PROVISIONAL 1342848 MIR16-2 microRNA 16-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q25.33 158543900 158543980 + 161605226 161605306 + 160122533 160122613 + 11679670;11914277;12624257;14573789;15183728;15325244;16381832;17604727;17616659;20309880;23325924 406951 ABBA01058796;AC024221;AF480520;AF480552;AJ550396;AMYH01013615;NR_029525 MIRN16-2;mir-16-3 APPROVED miscrna 31546 PROVISIONAL 1348634 MIR17 microRNA 17 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The precursor microRNA encoded by this gene produces two mature miRNAs from its 5-prime and 3-prime ends, respectively. [provided by RefSeq, May 2012] 13 13 q31.3 90800859 90800942 + 92002859 92002942 + 6480464 20878079;21040528;19347736;19287466;19158830;19066217;19048628;18941111;18836483;18773208;18700987;18695042;18688024;18644370;18632605;18327259;17284533;16940181;15944709;15944707;11914277;11679670;22583011;12554860;15183728;15325244;15978578;16381832;17604727;17616659;21444672;19633662;19672269;19949084;20022054;20089119;20148420;20209605;20406904;20349219;19821056;20810544;20656682;20711463;21338882;20703102;21370248;22959509;23001407;23029228;21203553;21283765;20505989;22228753;23333058;21816922;21176349;23095762;23728176;22730212;21953646;22132820;22438230;21955497;21898695;22072491;22828869;23258273;23226946;23306545;23056289;23285084;23203215;23263848;23583198;23246221 406952 ABBA01027235;AF480529;AF480562;AJ421735;AL162375;AMYH01005286;NG_032702;NR_029487 MIR17-5p;MIR91;MIRN17;MIRN91;hsa-mir-17;miR-17;miR17-3p;miRNA17;miRNA91 APPROVED miscrna ENSG00000207745 31547 609416 REVIEWED 7245789 MIR181A1HG MIR181A1 host gene (non-protein coding) 16344560;19080682 100131234 ABBA01027577;ABBA01027578;AL136321;AMYH01001627;BX355821;DA528985;EF413001;NR_040073 ABN58747 Hs.711077 miscrna 48659 VALIDATED 1351688 MIR181B1 microRNA 181b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 171950530 171950639 - 197094624 197094733 - 198828002 198828111 - 6480464 19547998;16039986;20347265;12624257;15634332;15800047;16381832;17604727;17616659;20596961;20797623;22232059;22722712;22901205;21130495;21636858;21876743;22251480;22446332;22466166;23431408 406955 ABBA01027577;AL136321;AMYH01001627;NR_029612 MIRN181B1 APPROVED miscrna ENSG00000207975 31550 612744 PROVISIONAL 1349974 MIR181B2 microRNA 181b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 98103875 98103963 + 126495809 126495897 + 127455989 127456077 + 6480464 19547998;16039986;20596961;12624257;15634332;15800047;16381832;17604727;17616659;20347265;21130495 406956 ABBA01043752;AL158075;AMYH01021708;NR_029782 MIRN181B2 APPROVED miscrna ENSG00000207737 31551 612745 PROVISIONAL 1351132 MIR181A1 microRNA 181a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.1 171950701 171950810 - 197094795 197094904 - 198828173 198828282 - 6480464 21159845;19273599;16039986;12624257;22492871;22535975;20363096;19883312;20204284;12554860;15634332;16381832;17604727;17616659;17989717;21167132;22232059;21453975;21102523;22971574;23100311;22219331;21307844;22251480;22209977;22042773;23222517;23408835;22006119 406995 ABBA01027577;AJ550416;AL136321;AMYH01001627;NR_029626 MIR213;MIRN181A1;MIRN213;hsa-mir-181a-1;mir-213 microrna 213 APPROVED miscrna ENSG00000207759 31590 612742 PROVISIONAL 1344915 MIR181A2 microRNA 181a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 98102607 98102716 + 126494541 126494650 + 127454721 127454830 + 6480464 22285729;19221487;16039986;12554860;12624257;15634332;16381832;17604727;17616659;17989717;20576283;21385555;20841506;21244495;21271219;23023500;22009755;21130495;22042811;22084432;22209977;23023298 406954 ABBA01043752;AL158075;AMYH01021708;NR_029611 1853208 WI-11569 MIRN181A;MIRN181A2;hsa-mir-181a-2 microrna 181a APPROVED miscrna ENSG00000207595 31549 612743 PROVISIONAL 1350100 MIR181C microRNA 181c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13879258 13879367 + 13846512 13846621 + 13985513 13985622 + 6480464 16039986;12624257;20080834;16381832;17604727;21112091;23077021;21994399;22310912;21720722 406957 ABBA01029709;AC020916;AJ550411;AMYH01009516;NR_029613 MIRN181C;mir-181c APPROVED miscrna ENSG00000207613 31552 612746 PROVISIONAL 2312961 MIR1826 microRNA 1826 16381832;18392026 100302162 AC136932;NR_031727 MIRN1826;hsa-mir-1826 miscrna 35390 2312946 MIR1825 microRNA 1825 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 27581947 27581999 + 30825598 30825650 + 16381832;18392026 100302183 ABBA01019279;AL121897;AMYH01011838;NR_031726 MIRN1825;hsa-mir-1825 APPROVED miscrna ENSG00000221667 35389 PROVISIONAL 2312922 MIR1827 microRNA 1827 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 100583662 100583727 + 16381832;18392026;21676885 100302217 ABBA01053263;AC010203;AMYH01004696;NR_031728 MIRN1827;hsa-mir-1827 APPROVED miscrna 35391 PROVISIONAL 1603765 MIR181D microRNA 181d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13879434 13879570 + 13846688 13846824 + 13985689 13985825 + 6480464 15965474;16381832;17604727;22207524;22570426 574457 ABBA01029709;AC020916;AMYH01009516;AY785944;NR_030179 MIRN181D APPROVED miscrna ENSG00000207585 32089 PROVISIONAL 1346166 MIR182 microRNA 182 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The microRNA encoded by this gene has been shown to down-regulate production of FOXO1, FOXO3, and microphthalmia-associated transcription factor-M, resulting in metastasis of certain tumors. [provided by RefSeq, Mar 2010] 7 7 7 q32.2 124205968 124206077 - 129197458 129197567 - 129410223 129410332 - 6480464 19188590;17597072;22134538;20656788;12624257;16381832;17604727;17616659;20472885;20420807;20370992;19574223;21195000;23006329;23019418;21503569;23153509;22325466;22086602;22045813;23354685;22582938;22790015;23383207;23430586;23169479;23226455;23313739;23329838;22848417;22322863;22681717;23333633 406958 AACC02000035;ABBA01057625;AC084864;AMYH01017933;CH236950;NG_023385;NR_029614 MIRN182;miRNA182 APPROVED miscrna ENSG00000207990 31553 611607 REVIEWED 2922954 MIR181A2HG MIR181A2 host gene (non-protein coding) 9 q33.3 127420715 127460907 + 15364906;8889548;21697133 100379345 AB593023;ABBA01043752;AL158075;AMYH01021708;BM716898;NR_038975 Hs.660412 miscrna ENSG00000224020 37188 VALIDATED 1351164 MIR184 microRNA 184 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q25.1 56438718 56438801 + 77289184 77289267 + 79502130 79502213 + 6480464 19033458;18451220;12554860;19286996;20409325;12554859;16381832;17604727;20889907;21844955;21996275;22131394 406960 ABBA01060605;AC069082;AMYH01006845;AY194164;NG_032125;NR_029705 EDICT;KTCNCT;MIRN184;miR-184 APPROVED miscrna ENSG00000207695 31555 613146;614303 REVIEWED 1342756 MIR183 microRNA 183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The microRNA encoded by this gene has been shown to inhibit metastasis in lung cancer by down-regulating the expression of ezrin and other genes involved in migration and invasion of cancer cells. [provided by RefSeq, Mar 2010] 7 7 7 q32.2 124210490 124210599 - 129201980 129202089 - 129414745 129414854 - 6480464 18840437;17597072;12554860;12624257;16381832;17604727;17616659;19940135;20186779;21118966;20858276;21176563;21920043;22045813;22525461;23007659;23538390;22922800 406959 AACC02000035;ABBA01057625;AC084864;AMYH01017933;AY194163;CH236950;NG_023385;NR_029615 MIRN183;miR-183;miRNA183 APPROVED miscrna ENSG00000207691 31554 611608 REVIEWED 1347667 MIR185 microRNA 185 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 3871865 3871946 + 18400661 18400742 + 20020662 20020743 + 6480464 12554860;12554859;15800047;16381832;17604727;17616659;20158877;20603620;19688090;20167074;20889907;21186079;21573504;21832077;23454892;21962230;22834685;23459944 406961 ABBA01005396;AC005663;AMYH01012483;AY194165;NR_029706 MIRN185;miR-185 APPROVED miscrna ENSG00000208023 31556 PROVISIONAL 1350945 MIR18A microRNA 18a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This gene is a member of an oncogenic miRNA cluster that is overexpressed in multiple cancers. The miRNA encoded by this gene functions as a tumor suppressor by targeting Dicer expression. [provided by RefSeq, May 2012] 13 13 13 q31.3 72849976 72850046 + 90801005 90801075 + 92003005 92003075 + 6480464 19372139;19233176;19027010;17558416;11914277;11679670;15325244;15978578;16381832;17604727;17616659;19203451;18632605;19684618;21627027;15126345;21501375;21980462;21953462;23280137;23097559;21935572;22045190;23322197;23579215 406953 AB176708;ABBA01027235;AF480521;AF480553;AJ421736;AL162375;AMYH01005286;NG_032702;NR_029488 Hs.24115 MIR18;MIRN18;MIRN18A;hsa-mir-18;hsa-mir-18a;miR-18;miRNA18A microrna 18 APPROVED miscrna 31548 609417 REVIEWED 1343777 MIR187 microRNA 187 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q12.2 30292723 30292831 - 31738778 31738886 - 33484781 33484889 - 6480464 12554860;21725366;12624257;16381832;17604727;23071313;23060431 406963 ABBA01022438;AC118757;AMYH01008938;AY194167;NR_029616 MIRN187;miR-187;miRNA187 APPROVED miscrna ENSG00000207797 31558 612698 PROVISIONAL 1346900 MIR186 microRNA 186 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p31.1 69822549 69822634 - 71305901 71305986 - 71533314 71533399 - 6480464 18682393;12554860;12554859;20075508;16381832;17604727;17616659 406962 ABBA01074473;AJ560752;AL512443;AMYH01000701;AY194166;NR_029707 1736072;1853672 D1S2013E;RH68377 MIRN186;miR-186 APPROVED miscrna 31557 PROVISIONAL 1604873 MIR18B microRNA 18b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690904 133690974 - 133131736 133131806 - 133304071 133304141 - 6480464 19684618;15944709;16381832;17604727;22821209;21327300;23365201 574033 ABBA01042404;AC002407;AMYH01022992;NR_029949 MIRN18B;hsa-mir-18b APPROVED miscrna ENSG00000239594 32025 PROVISIONAL 2312893 MIR1908 microRNA 1908 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 58918035 58918114 - 61582633 61582712 - 16381832;18583537;19508715;20224791;23142051 100302263 ABBA01003206;AMYH01003683;AP002380;NR_031729 MIRN1908;hsa-mir-1908 APPROVED miscrna 35392 PROVISIONAL 1352314 MIR188 microRNA 188 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53837336 53837421 + 49654848 49654933 + 49768109 49768194 + 6480464 12554860;12554859;16381832;17604727;18230126;20167074 406964 ABBA01063308;AC231645;AF222686;AMYH01022324;AY194168;NR_029708 MIRN188;miR-188 APPROVED miscrna 31559 PROVISIONAL 2312918 MIR1911 microRNA 1911 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 114432915 114432994 + 113997744 113997823 + 16381832;18583537 100302222 ABBA01053604;AC004822;AL590097;AMYH01022851;NR_031732 MIRN1911;hsa-mir-1911 APPROVED miscrna 35395 PROVISIONAL 2312927 MIR1909 microRNA 1909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 p13.3 1750242 1750321 - 1816158 1816237 - 16381832;18583537;21042738 100302210 ABBA01002687;AC012615;AMYH01009266;NR_031730 MIRN1909;hsa-mir-1909 APPROVED miscrna 35393 615201 PROVISIONAL 2312894 MIR1910 microRNA 1910 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 70078363 70078442 - 85775227 85775306 - 16381832;18583537 100302261 ABBA01034277;AC018695;AMYH01007889;NR_031731 MIRN1910;hsa-mir-1910 APPROVED miscrna ENSG00000222190 35394 PROVISIONAL 2312975 MIR1912 microRNA 1912 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 114321217 114321296 + 113886019 113886098 + 16381832;18583537;19784364 100302144 ABBA01053596;AC007025;AC233299;AMYH01022851;NR_031733 MIRN1912;hsa-mir-1912 APPROVED miscrna ENSG00000222321 35396 PROVISIONAL 2290210 MIR190B microRNA 190b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q21.3 127237860 127237938 - 152432764 152432842 - 154166141 154166219 - 16381832;17604727 100126346 ABBA01049475;AL590431;AMYH01001413;NR_030600 MIRN190B APPROVED miscrna ENSG00000215938 33656 PROVISIONAL 1345210 MIR191 microRNA 191 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 49014774 49014865 - 49033054 49033145 - 49058051 49058142 - 6480464 19048628;12554860;22683624;12554859;15325244;15891114;16381832;17604727;17616659;19954774;20167074;20924108;20169152;21084273;22898264;21969817;23505378;23564792;23500661 406966 ABBA01024618;AC137630;AMYH01013155;AY194171;NG_033126;NR_029690 MIRN191;miR-191 APPROVED miscrna ENSG00000207605 31561 615150 VALIDATED 2312978 MIR1913 microRNA 1913 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 167662199 167662278 - 166922842 166922921 - 16381832;18583537 100302141 ABBA01033442;AL022069;AMYH01016849;NR_031734 MIRN1913;hsa-mir-1913 APPROVED miscrna 35397 PROVISIONAL 2312986 MIR1915 microRNA 1915 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 p12.31 21473315 21473394 - 21785491 21785570 - 6480464 16381832;18583537;21042738;22121083 100302129 ABBA01034498;AL358780;AMYH01002172;NR_031736 MIRN1915;hsa-mir-1915 APPROVED miscrna 35399 615202 PROVISIONAL 2312982 MIR1914 microRNA 1914 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 59256678 59256757 - 62572818 62572897 - 16381832;18583537 100302137 ABBA01021433;AL118506;AMYH01012095;NR_031735 MIRN1914;hsa-mir-1914 APPROVED miscrna 35398 PROVISIONAL 1347802 MIR190A microRNA 190a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q22.2 39995775 39995859 + 60903208 60903292 + 63116156 63116240 + 6480464 12554860;12554859;16381832;17604727;21750348;23245204 406965 ABBA01038922;AC103740;AMYH01006701;AY194170;NR_029709 MIR190;MIRN190;hsa-mir-190a;miR-190 APPROVED miscrna 31560 PROVISIONAL 1348209 MIR194-1 microRNA 194-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q41 193510708 193510792 - 218358121 218358205 - 220291499 220291583 - 6480464 20951946;12554859;14573789;16381832;17604727;21845495;21851624;22396742;22028325 406969 ABBA01048082;AC103590;AMYH01001742;NR_029711 MIRN194-1 APPROVED miscrna ENSG00000207624 31564 610940 PROVISIONAL 1344358 MIR194-2 microRNA 194-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.1 61984894 61984978 - 64415402 64415486 - 64658827 64658911 - 12554859;14573789;16381832;17604727 406970 ABBA01024139;AMYH01003715;AP001187;NR_029829 1798586;1844424;1971986;1971988;1971990;1971992;1971994;1971996;1971998;1972000;1972002;1972004;1972006 ECD00132;ECD23426;REN56878;REN56879;REN56880;REN56881;REN56882;REN56883;REN56884;REN56885;REN56886;REN56887;REN56888 MIRN194-2 APPROVED miscrna ENSG00000207596 31565 610941 PROVISIONAL 1343846 MIR195 microRNA 195 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 6946439 6946525 - 6861657 6861743 - 6920934 6921020 - 6480464 18677302;17108080;21390519;12554859;16381832;17604727;20952681;20727858;22723898;21350001;22802111;21792910;22217655;22046085;23236408;23333942;21947305;22265971;22289176;23383003;22721728 406971 ABBA01054845;AC040977;AMYH01008065;NR_029712 MIRN195;miRNA195 APPROVED miscrna ENSG00000207929 31566 610718 PROVISIONAL 1603767 MIR193B microRNA 193b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.12 14573940 14574022 + 14305324 14305406 + 14397824 14397906 + 6480464 20073067;19684618;19701247;19883314;20304954;15965474;16274478;16381832;17604727;17616659;20889907;22674437;23335975;21724256;21512034;22491710;22752226;22797075 574455 ABBA01006884;AC040173;AMYH01007179;NR_030177 MIRN193B APPROVED miscrna ENSG00000207639 32087 614734 PROVISIONAL 1350382 MIR193A microRNA 193a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 26806777 26806864 + 26911127 26911214 + 29887015 29887102 + 6480464 12554859;16381832;17604727;17616659;22384930;21670079;21399664;22333974;23097335;23223432;22325218 406968 ABBA01014956;AC003101;AMYH01008325;NR_029710 MIRN193;MIRN193A microrna 193 APPROVED miscrna ENSG00000207614 31563 614733 PROVISIONAL 1353067 MIR192 microRNA 192 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.1 61984676 61984785 - 64415184 64415293 - 64658609 64658718 - 6480464 19088023;19074876;12554860;20647341;20056746;12554859;12624257;14573789;16381832;17604727;20951946;20889907;21119604;21672525;21372198;21511813;22264233;22433310;23170939;21785383;22205577 406967 ABBA01024139;AMYH01003715;AP001187;AY194172;NR_029578 1798586;1844424;1971984;1971986;1971988;1971990;1971992;1971994;1971996;1971998;1972000;1972002;1972004 ECD00132;ECD23426;REN56877;REN56878;REN56879;REN56880;REN56881;REN56882;REN56883;REN56884;REN56885;REN56886;REN56887 MIRN192;miR-192;miRNA192 APPROVED miscrna ENSG00000207648 31562 610939 PROVISIONAL 1353314 MIR196A1 microRNA 196a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q21.32 44064850 44064919 - 46709852 46709921 - 6480464 19418581;19063684;18663355;12554859;22545021;22139073;20722507;20480203;20229273;20614181;20127796;20601442;20889907;12624257;15105502;16381832;17604727;17616659;22859270;22358059;21077158;22420029;22001830 406972 ABBA01041173;AC103702;AJ560753;AMYH01008456;NR_029582 MIRN196-1;MIRN196A1 APPROVED miscrna ENSG00000210741 31567 608632 PROVISIONAL 4108560 MIR1972-1 microRNA 1972-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 15104178 15104254 - 16381832;18923441;11237011;15496913;15616553 100302243 ABBA01193097;AC138932;AMYH01007182;NR_036054 2167993 RH46084 MIR1972;hsa-mir-1972;hsa-mir-1972-1 APPROVED miscrna ENSG00000238728 37060 VALIDATED 4108984 MIR1972-2 microRNA 1972-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 70064249 70064325 + 16381832;18923441 100422922 ABBA01000842;AC009022;AMYH01007775;NR_036265 APPROVED miscrna ENSG00000239118 38252 VALIDATED 1353191 MIR196A2 microRNA 196a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 q13.13 52671788 52671897 + 54385522 54385631 + 22291993;19514064;19293314;19138993;22659075;21902575;23228090;20585341;20640596;20480203;12554859;12624257;15105502;16381832;17604727;17616659;20732906;20842445;20848167;21073609;21080878;19834808;19847796;19851984;19881472;20188135;20229273;20466450;20488170;20501619;20549817;19567675;22358059;21345130;21604580;21617338;21483822;21637771;22222140;21565628;21624236;21692953;21962133;21815818;22159951;22832484;22952151;21625865;21907588;22001830;22426473;22545021;22719192;23160898;23143626;23202363;22882355;21241442;22768213;22876840;22161766 406973 ABBA01008362;AC012531;AMYH01004483;NR_029617 2171265 STS-N31842 MIRN196-2;MIRN196A2 APPROVED miscrna ENSG00000207924 31568 609687 PROVISIONAL 2312930 MIR1974 microRNA 1974 q15 100302207 AC093311;NR_031738 hsa-mir-1974 miscrna 37062 2312941 MIR1977 microRNA 1977 100302189 AC114498;NR_031741 hsa-mir-1977 miscrna 37065 2312882 MIR1973 microRNA 1973 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 114513169 114513212 + 117220881 117220924 + 16381832;18923441 100302290 ABBA01063859;AC024248;AMYH01014478;NR_031737 hsa-mir-1973 APPROVED miscrna 37061 PROVISIONAL 2312954 MIR1978 microRNA 1978 100302173 AC105402;NR_031742 hsa-mir-1978 miscrna 37066 1348973 MIR197 microRNA 197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p13.3 108410814 108410888 + 109943037 109943111 + 110141515 110141589 + 6480464 12554859;20167074;16381832;17604727;17616659;20889907;21435175;22351693;23139153 406974 ABBA01068380;AJ560754;AL355310;AMYH01000933;NR_029583 MIRN197;miR-197;miRNA197 APPROVED miscrna ENSG00000207709 31569 611189 PROVISIONAL 2312904 MIR1975 microRNA 1975 16381832;18923441 100302248 AC073140;NR_031739 hsa-mir-1975 miscrna 37063 2312940 MIR1976 microRNA 1976 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 25278218 25278269 + 26881033 26881084 + 16381832;18923441 100302190 ABBA01034913;AL627313;AMYH01000402;NR_031740 hsa-mir-1976 APPROVED miscrna 37064 PROVISIONAL 1350479 MIR196B microRNA 196b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p15.2 27198038 27198121 - 27175623 27175706 - 27209099 27209182 - 6480464 12554860;15105502;16381832;17604727;17616659;19144710;20058197;20662076;20549547;20924650;20494936;20570349;22836757;22723849;21750860;22298639;22099053;22353710;22976466;23049982 442920 AACC02000007;ABBA01056760;AC004080;AMYH01017133;CH236948;NG_029923;NR_029911 1675915;1801382;1831382;2058922;2058924;2058926;2058928;2058930;2058932;2058934;2058936;2058938;2058940;2058942 ECD01564;ECD16827;REN100636;REN100637;REN100638;REN100639;REN100640;REN100641;REN100642;REN100643;REN100644;REN100645;REN100646;RH80053 MIRN196B;miR-196b;miRNA196B APPROVED miscrna ENSG00000207584 31790 609688 VALIDATED 2974673 MIR1979 microRNA 1979 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] q32.3 16381832;18923441 100302176 AC012504;NR_031743 hsa-mir-1979 miscrna 37067 1346476 MIR199A1 microRNA 199a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.2 10822947 10823017 - 10789101 10789171 - 10928102 10928172 - 22294637;18456660;18408758;15978578;12554859;12624257;16381832;17604727;20158877;21189327;21383689;22383663;21055388;22093618;22265968;22903020;23337876;22973051;23118427 406976 ABBA01029895;AC007229;AJ560756;AMYH01009480;NR_029586 MIR-199-s;MIRN199A1 APPROVED miscrna ENSG00000207752 31571 610719 PROVISIONAL 1347765 MIR198 microRNA 198 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q13.33 118523918 118523979 - 121597204 121597265 - 120114515 120114576 - 6480464 12554859;16381832;17604727;19671678;20167074;20347265;21658389;22295894;23395958;23391410;23354517;23069480 406975 ABBA01061566;AC063952;AJ560755;AMYH01013421;NR_029584 1673277;1735298;1858159 D3S2939E;SHGC-77232;SHGC-77238 MIRN198;miR-198 APPROVED miscrna 31570 PROVISIONAL 1347994 MIR19A microRNA 19a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850116 72850197 + 90801145 90801226 + 92003145 92003226 + 6480464 22828869;11914277;11679670;18632605;19538740;20133739;20167074;20857258;12554860;16381832;17604727;17616659;21059650;22952885;21271217;15126345;22105995;22561557;22362744;23603256 406979 AB176708;ABBA01027235;AF480522;AF480554;AJ421737;AL162375;AMYH01005286;NG_032702;NR_029489 Hs.24115 MIRN19A;hsa-mir-19a;miR-19a;miRNA19A APPROVED miscrna ENSG00000207610 31574 609418 REVIEWED 1352073 MIR199B microRNA 199b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.11 101657904 101658013 - 130046820 130046929 - 131007000 131007109 - 6480464 19308264;18548097;12624257;14573789;16381832;17604727;19900756;21102440;21557766;22374871;22411914;22920721 406978 ABBA01043872;AJ550412;AL590708;AMYH01021743;NG_029726;NR_029619 MIRN199B;mir-199b APPROVED miscrna ENSG00000207581 31573 614791 VALIDATED 1604139 MIR17HG miR-17-92 cluster host gene (non-protein coding) This gene is the host gene for the MIR17-92 cluster, a group of at least six microRNAs (miRNAs) that may be involved in cell survival, proliferation, differentiation, and angiogenesis. Amplification of this gene has been found in several lymphomas and solid tumors. Two non-protein coding transcript variants have been found for this host gene, but only the longest is a polycistronic transcript containing the MIR17-92 cluster. [provided by RefSeq, May 2012] 13 13 q31.3 90800444 90800656 + 92000074 92006829 + 6480464 20008935;22024720;22116552;22383169;17210683;16266980;16077067;15944709;15944707;15126345;14702039;12477932;11991713;19597473;19696742;20300951;20305691;22451425;20167088;22969266;22022595;21892160;21664042;21897363;21796614;22665768;22343732;23288173;22995834;23438603;23551855;22731656 407975 Q75NE6 AB176707;ABBA01027235;ABBA01027236;AF339828;AK024240;AL138714;AL162375;AMYH01005286;BC040320;BC109081;BC109082;NG_032702;NR_027349;NR_027350 Hs.24115;Hs.652877 1668059;1721341;2122824 G59670;RH45064;RH48552 C13orf25;FGLDS2;FLJ14178;LINC00048;MGC126270;MIHG1;MIRH1;MIRHG1;NCRNA00048;miR-17-92 APPROVED miscrna ENSG00000215417 23564 12617 609415;614326 REVIEWED 1349796 MIR199A2 microRNA 199a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.3 145223106 145223215 - 170380297 170380406 - 172113675 172113784 - 22294637;18408758;15978578;20400975;12554859;12624257;16381832;17604727;20158877;21055388;22359598 406977 ABBA01027921;AL137157;AMYH01001497;NR_029618 MIR-199-s;MIRN199A2 APPROVED miscrna ENSG00000208024 31572 610720 PROVISIONAL 1346116 MIR19B1 microRNA 19b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850417 72850503 + 90801446 90801532 + 92003446 92003532 + 11679670;11914277;12554860;14573789;15183728;15325244;15978578;16381832;17604727;17616659;18632605;15126345;21176349;22197821 406980 AB176708;ABBA01027235;AF480523;AF480555;AJ421739;AL162375;AMYH01005286;NG_032702;NR_029490 Hs.24115 MIRN19B1;miR-19b-1;miRNA19B1 APPROVED miscrna ENSG00000207560 31575 609419 REVIEWED 1347760 MIR19B2 microRNA 19b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690534 133690629 - 133131366 133131461 - 133303701 133303796 - 11679670;11914277;12554860;14573789;15183728;15325244;15978578;16381832;17604727;17616659 406981 ABBA01042404;AC002407;AF480556;AJ421740;AMYH01022992;NR_029491 MIRN19B2;miR-19b-2 APPROVED miscrna ENSG00000207812 31576 300722 PROVISIONAL 1343713 MIR200B microRNA 200b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 p36.33 1092346 1092440 + 1102484 1102578 + 6480464 18381893;17585049;21237487;20551052;20832727;20514023;12769849;14573789;15891114;16381832;17604727;17616659;19501389;19671845;19801681;20574809;21079000;20668090;21081489;21051560;20683643;21049046;22311119;22183793;22522429;22703336;22804917;23074016;23223443;21725369;22139708;22294131;23169479;22231446;23389960 406984 ABBA01016022;AL390719;AMYH01000116;NR_029639 MIRN200B APPROVED miscrna ENSG00000207730 31579 612091 PROVISIONAL 1348162 MIR200A microRNA 200a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 p36.33 1093105 1093194 + 1103243 1103332 + 6480464 18381893;21115742;21285251;21529905;21237487;20551052;20514023;12554859;15634332;15891114;16381832;17604727;17616659;19501389;19671845;19703993;19931509;20124485;20167074;21051560;20826811;20473948;21926171;21596753;21955614;21698760;22183793;23074016;23329838;21837748;22101765;22987275;22294131;22529366;22161972;22077060;22082152;22957494 406983 ABBA01016022;AL390719;AMYH01000116;NR_029834 MIRN200A APPROVED miscrna ENSG00000207607 31578 612090 PROVISIONAL 1353057 MIR200C microRNA 200c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 p13.31 6943122 6943189 + 7072862 7072929 + 6480464 19502803;18381893;17804704;21516486;20620960;19665978;19801681;20084174;20514023;14573789;15183728;16381832;17604727;17616659;22707408;21051560;20696752;21237487;21224847;21224848;21345725;21248297;21873159;22100809;21501518;22183793;22364742;21899661;22015043;22144583;21527937;22384255;22615771;22223089;22407310;22641662;22522429;23041061;23185507;22562822;22954417;22101791;23272142;23394580;22991189;22685266;22982443 406985 ABBA01017670;AMYH01004212;NR_029779;U47924 MIRN200C APPROVED miscrna ENSG00000207713 31580 612092 PROVISIONAL 2312895 MIR2052 microRNA 2052 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 71612148 71612202 + 75617928 75617982 + 16381832;18952845 100302260 ABBA01041986;AC115837;AMYH01018800;NR_031744 hsa-mir-2052 APPROVED miscrna 37068 PROVISIONAL 2312915 MIR2053 microRNA 2053 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 109842267 109842357 + 113655722 113655812 + 18952845;16381832 100302225 ABBA01037742;AC104380;AMYH01018969;NR_031745 hsa-mir-2053 APPROVED miscrna ENSG00000238399 37069 PROVISIONAL 1346904 MIR204 microRNA 204 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q21.12 43997268 43997377 - 72614710 72614819 - 73424891 73425000 - 6480464 22516261;22523078;23204229;21321078;20056717;12624257;16381832;17604727;20889907;21400511;21446014;21316776;23152059;22982025;22718995;23285024;23541832 406987 ABBA01033830;AL159990;AMYH01021398;NR_029621 MIRN204;miRNA204 APPROVED miscrna 31582 610942 PROVISIONAL 1350430 MIR205 microRNA 205 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 q32.2 207672100 207672209 + 209605478 209605587 + 6480464 19033458;19244118;19238171;19190970;18719201;21330408;21363915;21454583;19665999;19839716;20167074;12624257;16381832;17604727;17616659;19144710;20588024;22949650;20428818;20530248;20889907;20436283;21263248;21237487;22890556;22871739;21368878;21787752;21372198;22555458;22869146;21426561;22782668;23212344;23571738;21453382;22987275;22159356;22294324;22356767;22374676;22514717;22525428;22223089;23239884;22859986;23041061;23056551;23125283;22391564;22631664;22578566 406988 ABBA01048219;AL035408;AMYH01001696;NR_029622 1644273;1644275;5022189 A006A02;G20640;RH68246 MIRN205 APPROVED miscrna 31583 613147 PROVISIONAL 1345431 MIR203 microRNA 203 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 q32.33 103653494 103653603 + 104583742 104583851 + 6480464 22690848;18483491;17622355;21063914;21454413;21299870;12624257;16381832;17604727;19551852;19759552;19843643;20219920;20702634;20698882;20652642;21205209;21368580;21354697;23073851;21536793;21684271;22205737;21707582;22306317;22354972;22082000;22917968;23462723;23354685;21159887;21323860;21836020;22514743;21943223;22713668;23447531;23416953;21786180;23285092;22391564;23190607;22679274;23449450;22940702;22886454 406986 ABBA01048391;AL136001;AMYH01006056;NR_029620 MIRN203;miR-203;miRNA203 APPROVED miscrna ENSG00000207568 31581 611899 PROVISIONAL 1346072 MIR208A microRNA 208a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q11.2 3720516 3720586 - 22927644 22927714 - 23857805 23857875 - 6480464 22713968;17379774;12554859;16381832;20029200;20447577;23121236 406990 ABBA01061320;AL049829;AMYH01005604;NR_029595 MIR208;MIRN208;MIRN208A;hsa-mir-208a;miRNA208 APPROVED miscrna 31585 611116 PROVISIONAL 2946918 MIR2054 microRNA 2054 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 q28.1 123808700 123808748 + 126428414 126428462 + 16381832;18952845;19734545 100302267 ABBA01044777;AC092629;AMYH01014505;NR_031746 hsa-mir-2054 APPROVED miscrna 37070 PROVISIONAL 1603774 MIR202 microRNA 202 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q26.3 128455338 128455447 + 134911005 134911114 - 135061015 135061124 - 6480464 15965474;16381832;17604727;20889907 574448 ABBA01006207;AL592071;AMYH01003230;AY882277;NR_030170 MIRN202;hsa-mir-202 APPROVED miscrna ENSG00000199089 32080 PROVISIONAL 1352988 MIR206 microRNA 206 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 p12.2 52117105 52117190 + 52009147 52009232 + 6480464 22308266;19620785;18593897;12554859;22508046;20346098;20519629;20696132;16381832;17604727;20487562;19423651;19684618;19710019;19723635;20347265;21157919;21518959;21645416;21637854;21983130;22330340;22110210;23071643;23348698;23466356;22926857;22912879 406989 ABBA01050561;AL391221;AMYH01016349;NR_029713 MIRN206;miRNA206 APPROVED miscrna ENSG00000207604 31584 611599 PROVISIONAL 1604874 MIR20B microRNA 20b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690672 133690740 - 133131504 133131572 - 133303839 133303907 - 6480464 20232316;15944709;15965474;16274478;16381832;17604727;17616659;21081659;22901144;22438230 574032 ABBA01042404;AC002407;AMYH01022992;AY785943;NR_029950 MIRN20B;hsa-mir-20b APPROVED miscrna ENSG00000207710 32024 PROVISIONAL 1352718 MIR20A microRNA 20a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 q31.3 90801319 90801389 + 92003319 92003389 + 6480464 22648654;19048628;18836483;18773208;18695042;17135249;15944709;11679670;22682761;12554860;14573789;15325244;15978578;16381832;17604727;17616659;18632605;19893619;20089119;20167074;20406904;20485376;20711463;20944140;22785209;21242194;21283765;21743293;22901144;20583868;23333058;22449978;21816922;15126345;22186140;22438230;22751500;22825541;23203215;23307259;23056289;22696064;23087182;23246221 406982 AB176708;ABBA01027235;AJ421738;AL162375;AMYH01005286;NG_032702;NR_029492 Hs.24115 MIR20;MIRN20;MIRN20A;hsa-mir-20;hsa-mir-20a;miR-20;miRNA20A microrna 20 APPROVED miscrna ENSG00000199149 31577 609420 REVIEWED 2290220 MIR208B microRNA 208b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q11.2 3749891 3749967 - 22957035 22957111 - 23887196 23887272 - 6480464 16381832;16954537;17604727;20921333;23448306 100126336 ABBA01061320;AL132855;AMYH01005604;NR_030624 5024749 RH93331 MIRN208B APPROVED miscrna 33669 613613 PROVISIONAL 1345765 MIR210 microRNA 210 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 p15.5 558088 558197 - 568089 568198 - 6480464 18417479;18283792;12624257;21704399;22672828;22641662;22095477;22842193;22360314;23150176;20498629;19551852;19652553;19712585;19782034;19808020;20075508;20187102;20308562;15800047;16381832;17604727;17616659;22541087;21044961;20964835;22896707;22977270;20888330;20885442;20436681;20809117;21360638;23024754;22833359;23028679;21555452;21700819;22886504;23302469;21622133;22387901;21738599;21812927;23449350;22703336;22144109;21801864;22287106;21388517;23439645;23097335;23383105;22249254;22962263;23051042 406992 ABBA01015192;AJ550413;AMYH01003287;AP006284;NR_029623 2119411 SHGC-31256 MIRN210;mir-210 APPROVED miscrna ENSG00000199038;ENSG00000254474 31587 612982 PROVISIONAL 2312916 MIR2110 microRNA 2110 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 109663035 109663109 - 115933864 115933938 - 16381832;19144710 100302224 ABBA01062982;AC022023;AMYH01003086;NR_031747 hsa-mir-2110 APPROVED miscrna ENSG00000238742 37071 PROVISIONAL 1344448 MIR211 microRNA 211 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q13.3 9082721 9082830 - 29144526 29144635 - 31357235 31357344 - 6480464 21435193;18946016;12624257;22523078;20378606;21072171;21109473;20889907;16381832;20056717;22223089;22235338 406993 ABBA01038324;AC009562;AJ550414;AMYH01006503;NR_029624 MIRN211;mir-211 APPROVED miscrna 31588 613753 PROVISIONAL 3497328 MIR2114 microRNA 2114 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 149644327 149644406 + 149396239 149396318 + 20224791;16381832;19390579 100313839 ABBA01037093;AC144560;AC235697;AMYH01023212;NR_031748 APPROVED miscrna ENSG00000252454 37308 PROVISIONAL 2312959 MIR2113 microRNA 2113 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 99116575 99116665 + 98472407 98472497 + 16381832;16954537;19015728 100302164 ABBA01014505;AL590239;AMYH01016532;NR_031579 hsa-mir-2113 APPROVED miscrna ENSG00000238367 37058 PROVISIONAL 4892519 MIR210HG MIR210 host gene (non-protein coding) 11 11 p15.5 628314 631077 - 565657 568457 - 14702039 100506211 ABBA01015192;AK123483;AMYH01003287;AP006284;NR_038262 Hs.446388 2119411 SHGC-31256 FLJ41489 miscrna ENSG00000247095 39524 VALIDATED 3497322 MIR2116 microRNA 2116 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 36351331 36351410 - 59463382 59463461 - 16381832;19390579 100313886 ABBA01038969;AC092756;AMYH01006683;NG_031999;NR_031750 APPROVED miscrna 37310 VALIDATED 3497327 MIR2115 microRNA 2115 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 48357850 48357949 - 16381832;19390579;20224791 100313840 ABBA01024652;AC105267;AMYH01013149;NR_031749 APPROVED miscrna 37309 PROVISIONAL 3516308 MIR2117 microRNA 2117 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 41522174 41522253 + 16381832;19390579 100313779 ABBA01028414;AC087650;AMYH01008406;NR_031751 APPROVED miscrna ENSG00000252589 37311 PROVISIONAL 1352239 MIR212 microRNA 212 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 1970210 1970319 - 1900314 1900423 - 1953565 1953674 - 6480464 22880819;18162065;12624257;22357618;23264652;20020497;21329664;16381832;20856931;22692398;23011132;22077060;22110741;22241070;21053104;23295264 406994 AC090617;AJ550415;AMYH01008006;NR_029625 MIRN212;mir-212 APPROVED miscrna ENSG00000207953;ENSG00000267195 31589 613487 PROVISIONAL 1347052 MIR214 microRNA 214 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.3 145217369 145217478 - 170374560 170374669 - 172107938 172108047 - 6480464 18199536;17108080;12624257;19733659;19859982;20400975;16381832;17604727;18230126;22350790;22929890;22399294;21216304;22962603;22613005;21468029;21525938;23187003;23301758;22249219;21828058;22927443;22359598;21228352;22048026;22540680;22973051;22828925;22982546;23068095;23479198;23337879;23532734;22867052 406996 ABBA01027921;AJ550417;AL137157;AMYH01001497;NR_029627 MIRN214;miRNA214;mir-214 APPROVED miscrna ENSG00000207949 31591 610721 PROVISIONAL 5552909 MIR205HG MIR205 host gene (non-protein coding) 1 1 q32.2 207668791 207672517 + 209602168 209605894 + 16344560;8889548 642587 Q7Z5Z9 ABBA01048219;AL035408;AMYH01001696;AW275825;AY320401;BG674039;BM980083;CV575609;DA461662;NM_001104548 AAP73803;NP_001098018 Hs.510543 1644273;1644275;5022189 A006A02;G20640;RH68246 LINC00510 NPC-A-5;long intergenic non-protein coding RNA 510;uncharacterized protein LOC642587 protein-coding 43562 VALIDATED 1345766 MIR215 microRNA 215 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q41 193510404 193510513 - 218357817 218357926 - 220291195 220291304 - 6480464 19074876;12624257;20951946;16381832;17604727;20433742;20647341;21119604;21752725;22033272;22205577 406997 ABBA01048082;AC103590;AJ550418;AMYH01001742;NR_029628 MIRN215;miRNA215;mir-215 APPROVED miscrna ENSG00000207590 31592 610943 PROVISIONAL 1353818 MIR216A microRNA 216a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p16.1 56056494 56056603 - 56069588 56069697 - 56216085 56216194 - 6480464 12624257;20167074;16381832;17604727;22960330;22392644 406998 ABBA01075280;AC011306;AJ550419;AMYH01010368;NR_029629 MIR216;MIRN216;MIRN216A;miRNA216;mir-216 APPROVED miscrna ENSG00000207798 31593 610944 PROVISIONAL 1345644 MIR217 microRNA 217 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p16.1 56050481 56050590 - 56063605 56063714 - 56210102 56210211 - 6480464 12624257;16381832;17604727;19786632;20675343;21106538;22308024;22001830;22446413;22406815 406999 ABBA01075280;AC011306;AJ550420;AMYH01010368;NR_029630 MIRN217;mir-217 APPROVED miscrna ENSG00000207548 31594 615096 PROVISIONAL 2290236 MIR216B microRNA 216b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p16.1 56068265 56068346 - 56081352 56081433 - 56227849 56227930 - 6480464 16381832;16954537;17604727 100126319 ABBA01075280;AC011306;AMYH01010368;NR_030623 MIRN216B APPROVED miscrna ENSG00000211520 33668 PROVISIONAL 1344474 MIR218-1 microRNA 218-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p15.31 20986406 20986515 + 20138995 20139104 + 20529898 20530007 + 12624257;20510072;16381832;17604727;17616659;20933503;20300657;20838434;21309487;21385904;19372056;21519788;21795477;22968430;22011248;22088371;23566829;22237456;23255074;23212916;20843712;22705304;22766851 407000 ABBA01032644;AC021118;AJ550421;AMYH01014047;NR_029631 MIRN218-1;mir-218-1 APPROVED miscrna 31595 PROVISIONAL 1347035 MIR218-2 microRNA 218-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q34 164229947 164230056 - 168127728 168127837 - 168195151 168195260 - 12624257;16381832;17604727;17616659;20889907;20838434;21385904;22237456;22766851 407001 ABBA01044114;AC011365;AJ550422;AMYH01015798;NG_033081;NR_029632 MIRN218-2;mir-218-2 APPROVED miscrna 31596 VALIDATED 2290253 MIR220B microRNA 220b 19 p13.3 6446958 6447044 + 16381832;17604727 100126300 AC010503;NR_030585 MIRN220B miscrna 33640 1350788 MIR220A microRNA 220a X q25 122523626 122523735 - 12624257;16381832 407005 AJ550424;AL030996;NR_029634 MIRN220;MIRN220A;hsa-mir-220a;mir-220 miscrna 31600 1345864 MIR22 microRNA 22 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 p13.3 1563946 1564030 - 1617197 1617281 - 6480464 19414598;18066065;11914277;11679670;22484852;21502362;20523723;20180843;20214878;14573789;15978578;16381832;17604727;17616659;20158877;20889907;20842113;20562918;20633528;21168126;21057539;22660186;22375943;21798241;21629773;21565979;21176563;21594648;21750200;22166214;23022100;22492279;23203215;23349832;23372812 407004 ABBA01054671;AC130343;AF480525;AJ421742;AMYH01008004;NG_032811;NR_029494 MIRN22;hsa-mir-22;miR-22 APPROVED miscrna ENSG00000199060 31599 612077 VALIDATED 2290212 MIR220C microRNA 220c 19 53755340 53755422 - 16381832;17604727 100126344 AC008403;NR_030591 MIRN220C miscrna 33647 1353680 MIR219-2 microRNA 219-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.11 101805800 101805896 - 130194717 130194813 - 131154897 131154993 - 18548097;12624257;15634332;16381832;17604727;22957142 407003 ABBA01043877;AL359091;AMYH01021744;NR_029837 MIRN219-2 APPROVED miscrna ENSG00000207955 31598 PROVISIONAL 1351642 MIR219-1 microRNA 219-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p21.32 34729976 34730085 + 33283589 33283698 + 33175612 33175721 + 19138993;17553428;12624257;20585341;19851984;20732906;20889907;15634332;16381832;17604727 407002 ABBA01038138;AJ550423;AL645940;AL713971;AL844527;AMYH01016242;CR759733;CR759786;CR847841;NR_029633 2106397;2114924;2189413 D6S2731;MARC_5283-5284:991939549:1;SHGC-31083 MIRN219-1;MRI219-1;mir-219 APPROVED miscrna ENSG00000199036 31597 611500 PROVISIONAL 1352986 MIR222 microRNA 222 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p11.3 45491364 45491473 - 45606421 45606530 - 6480464 20857258;19487542;19464057;19351832;19109175;19107213;18790736;18708351;17914108;17721077;17569667;16330772;12624257;22677042;22075712;22127852;22681957;20624000;20417062;20461750;20428775;20489169;21057537;19520829;19551852;19589872;19615744;19883312;19953484;19962668;20012062;20103675;20167074;20198336;20203269;20818387;20504344;15183728;15325244;16381832;17604727;17616659;22267590;20813046;21042732;21132270;21071579;20305142;21076613;23522449;21873159;22685016;21537871;21673316;22321642;21743492;22294051;21586237;21656127;21868360;22009755;21706050;22117988;22351693;21756067;23023232;22562984 407007 ABBA01052119;AC234772;AJ550426;AL034412;AMYH01022246;NR_029636 MIRN222;miRNA222;mir-222 APPROVED miscrna ENSG00000207725 31602 300569 PROVISIONAL 1349484 MIR221 microRNA 221 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p11.3 45490528 45490637 - 45605585 45605694 - 6480464 22466166;19464057;19424584;19351832;19351599;19159078;19126397;19109175;19107213;19088079;18790736;18759060;18708351;18521080;18382364;17914108;17721077;17569667;16330772;12624257;22075712;22127852;21487968;22275134;22681957;22728346;20417062;20461750;20547861;19585579;19615744;19671867;19730150;19749093;19953484;19962668;20012062;20018759;20110463;20167074;20198336;20203269;16365291;21159845;20880178;16381832;17604727;17616659;20158877;15325244;20818387;20624000;22267590;20428775;20813046;19767219;20975375;21042732;20305142;21076613;22396537;21132270;21071579;21057537;21378318;21673316;21119596;21236259;22660186;22864280;21458843;21873159;22572970;22685016;20146005;21278784;23607629;23023232;21562054;21586237;21868360;22009537;22294051;21743492;22272270;22156446;21706050;22117988;21538272;21756067;23031797;23307259;23372675;22855362;22562984;23320393;23564792;22613407 407006 ABBA01052119;AC234772;AJ550425;AL034412;AMYH01022246;NR_029635 MIRN221;miRNA221;mir-221 APPROVED miscrna ENSG00000207870 31601 300568 PROVISIONAL 3497325 MIR2276 microRNA 2276 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 5798781 5798869 + 24736555 24736643 + 16381832;19508715 100313842 ABBA01007887;AL359736;AMYH01004971;NR_031753 APPROVED miscrna ENSG00000252695 37313 PROVISIONAL 3516306 MIR2278 microRNA 2278 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 68013279 68013374 + 97572244 97572339 + 16381832;19508715 100313780 ABBA01043629;AL157936;AMYH01021531;NR_031755 APPROVED miscrna 37315 PROVISIONAL 4108862 MIR2355 microRNA 2355 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 201736192 201736278 - 207974711 207974797 - 16381832;19784364;20224791;20459774;20532037;21199797 100423036 ABBA01062674;AC008062;AMYH01011445;NR_036227 APPROVED miscrna 38328 PROVISIONAL 1346129 MIR224 microRNA 224 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151372641 151372721 - 150877705 150877785 - 151127050 151127130 - 6480464 18319255;16331254;22459148;19403413;19475450;19793168;12554860;15891114;16381832;17604727;17616659;19015728;19144710;22809510;23199328;21912701 407009 ABBA01037272;AF274855;AMYH01023229;NR_029638 MIRN224;miRNA224 APPROVED miscrna 31604 300769 PROVISIONAL 1342661 MIR223 microRNA 223 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q12 65155436 65155545 + 65238712 65238821 + 6480464 19047678;12624257;19289845;19278969;19148136;19144983;19048628;18555017;18442408;18056805;17996649;19017354;20826802;19931339;20018373;20029046;20080987;20188071;16381832;17604727;22984081;22984082;23026916;20418243;20856265;20802470;21229610;21939504;22238823;21453483;21628394;23436935;22032299;22424712;22470493;22569260;22270966;23208072;22145958;23094093;23144169;22932402;23459944;23056289;22006119 407008 ABBA01067079;AJ550427;AL034397;AMYH01022504;NR_029637 MIRN223;miRNA223;mir-223 APPROVED miscrna ENSG00000207939 31603 300694 PROVISIONAL 5133876 MIR2392 microRNA 2392 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 101280828 101280911 + 16381832;20733160 100616495 ABBA01048519;AL117190;AMYH01006015;NR_039729 APPROVED miscrna ENSG00000266461 41843 PROVISIONAL 3497321 MIR2277 microRNA 2277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 88815798 88815890 - 92956402 92956494 - 16381832;19508715;20224791 100313887 ABBA01069283;AC106818;AMYH01015485;NR_031754 APPROVED miscrna ENSG00000251725 37314 PROVISIONAL 1351663 MIR23A microRNA 23a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13841149 13841221 - 13808400 13808472 - 13947401 13947473 - 6480464 11679670;11914277;14573789;15325244;16381832;17604727;17616659;19513126;20086171;20815877;20698883;22455847;22752005;21693609;21750350;21593605;23322776;23450049;22634383;22653319;23019365;23158364 407010 ABBA01029712;AC020916;AF480526;AF480558;AJ421743;AMYH01009513;NR_029495 MIRN23A;hsa-mir-23a;miRNA23A APPROVED miscrna ENSG00000207980 31605 607962 PROVISIONAL 5134087 MIR2467 microRNA 2467 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 240273419 240273499 - 21558790;16381832;21199797 100616360 ABBA01033518;AC062017;AMYH01011611;NR_039948 APPROVED miscrna 41881 PROVISIONAL 4888855 MIR23C microRNA 23c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 20035206 20035305 - 16381832;20459774 100500809 ABBA01071830;AL732366;AMYH01022134;NR_037414 hsa-mir-23c APPROVED miscrna 38913 PROVISIONAL 1344925 MIR24-2 microRNA 24-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.13 13840849 13840921 - 13808100 13808172 - 13947101 13947173 - 6480464 19048628;15978578;11679670;11914277;14573789;15325244;16381832;17604727;17616659;20158877;20815877;19513126;20347265;20195546;21593605;21463514;23322776;23142218 407013 ABBA01029712;AC020916;AF480559;AJ421745;AMYH01009513;NR_029497 MIRN24-2;miR-24-2;miRNA24-2 APPROVED miscrna ENSG00000209707 31608 610724 PROVISIONAL 1349177 MIR23B microRNA 23b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68288521 68288617 + 96887310 96887406 + 97847490 97847586 + 6480464 17108080;22660635;20086171;20133741;20889907;12007417;16381832;17604727;17616659;20562915;22982144;23338610;21242962;21642441;22109528;22127852;22710126;23300597;23189187;23450049;22649212;22745829;23074286 407011 ABBA01043625;AL354893;AMYH01021532;NR_029664 MIRN23B;hsa-mir-23b;miRNA23B APPROVED miscrna ENSG00000207563 31606 610723 PROVISIONAL 1351042 MIR25 microRNA 25 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 94425842 94425925 - 99529118 99529201 - 99691183 99691266 - 6480464 18328430;11679670;20388916;20935678;19486339;19541842;20637509;15325244;16381832;17604727;17616659;22829805;22431589;21953056;22076535;22450326;23435373;23246404 407014 AACC02000084;ABBA01013238;AC073842;AJ421746;AMYH01017726;CH236956;NR_029498 MIRN25;hsa-mir-25;miR-25 APPROVED miscrna 31609 612150 PROVISIONAL 5134206 MIR2681 microRNA 2681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 102619992 102620096 - 16381832;21199797 100616110 ABBA01027078;AL512629;AMYH01005340;NR_039603 APPROVED miscrna 41532 PROVISIONAL 1342757 MIR24-1 microRNA 24-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68289334 68289401 + 96888123 96888190 + 97848303 97848370 + 6480464 19377482;19048628;16224024;15978578;11679670;20019669;20041160;20347265;20816961;11914277;12554859;14573789;15325244;16381832;17604727;17616659;20158877;20889907;20195546;22815235;22761894;21807902;23172553;23142218 407012 ABBA01043625;AF480560;AJ421744;AL354893;AMYH01021532;NR_029496 MIR189;MIRN24-1;miR-24-1;miRNA24-1 APPROVED miscrna 31607 609705 PROVISIONAL 1345037 MIR26A2 microRNA 26a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q14.1 57876312 57876395 - 56504658 56504741 - 58218392 58218475 - 14573789;15183728;15325244;15978578;16381832;17604727;11679670;17616659 407016 ABBA01026693;AC121759;AMYH01004526;NR_029847 MIRN26A2 APPROVED miscrna 31611 613057 PROVISIONAL 1350106 MIR26B microRNA 26b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q35 213033991 213034067 + 218975612 218975688 + 219267369 219267445 + 6480464 21264258;21510944;22139073;11679670;19812400;20167074;20347265;14573789;15325244;16381832;17604727;17616659;20889907;20831567;22614013;21901137;22194877;22307176 407017 ABBA01023870;AC021016;AJ421748;AMYH01011496;NG_030418;NR_029500 MIRN26B;hsa-mir-26b;miR-26b APPROVED miscrna 31612 612152 VALIDATED 1349265 MIR21 microRNA 21 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q23.1 55273408 55273479 + 57918627 57918698 + 6480464 16024602;22187223;22367347;19597153;19547998;19408243;19398721;19302977;19296468;19276261;19264808;19212625;19159078;19106647;19072831;19048628;19013014;18971265;18829576;18812439;18798260;18794849;18719201;18688024;18591254;18507035;18384814;18372920;18218696;18196926;18059191;17968323;17681183;17622355;17478730;17363372;15525708;12477932;11914277;11679670;21471222;22001440;22466166;21516486;22316494;22354855;22357537;22547075;22618231;22770403;22176994;22617246;20404348;20346098;20363096;20393129;20498843;20489163;21330826;21412018;20223231;20889907;18932017;19419954;19430705;19446359;19509156;19509158;19546886;19559015;19578724;19633292;19641183;19672202;19682430;19730150;19737943;19816956;19826040;19921579;19946272;20092645;20093556;20153722;20167074;20371612;20483747;16365291;20701609;21159845;20346171;20515755;20643828;20370992;12554860;14573789;15183728;15325244;15978578;16381832;17604727;17616659;20141427;20158877;20504344;20620599;20113523;22541087;21078976;20148895;20428818;20447717;20514462;20797623;20625373;20693317;21069438;20831814;20372781;20813833;20826792;21229610;21712654;22614176;22678116;22690848;22844109;22901216;20980091;22162762;22417311;21042775;21081469;21187093;21170291;21328460;20856158;21263248;21376256;21698265;21849676;20628822;21088996;21279518;21131358;22573493;22638884;22709411;22806311;23104517;23267156;23137528;23272057;23272133;23390194;23578931;22666537;23224068;20647767;21324318;21468550;21099344;21350005;21278789;21647970;21271219;21544242;21546206;21525938;21820586;20335152;21317927;21467264;21673684;22811001;22924844;22960330;21636706;21636785;21983937;21602271;21647251;21104017;21435175;21955614;21373745;21817107;21863027;19435867;21381024;21820606;21917003;21347332;21956205;22119803;21872591;21876743;21649547;21721011;21453382;20480266;21562928;21685938;21718132;21909994;22001830;22066022;22133680;21806946;22072622;22034194;22267128;22322403;22430134;22614007;22630347;22739167;22956424;23041385;23259291;22898264;23139258;23216894;23334650;21521185;23201752;23269581;22057972;22099878;22158624;22286305;21618027;22140441;22174421;22114136;22347428;22371328;21749846;22212233;22267008;22289526;22289545;22194833;22351693;22435731;22609400;22634616;22320969;21943223;22244963;22553926;22879939;22698984;23479230;22836856;22922228;23082189;22782668;23077620;23416953;23417858;23097335;23052693;23206776;22614019;22335905;22335906;22353043;22526161;22631664;22642976;22685542;22836756;22868372;22891879;22130252;23564788;23564792;22519435;22728051;22760500;22476768;22761812;22853427;23011541 406991 ABBA01003177;AC004686;AF480502;AF480524;AF480557;AJ421741;AMYH01008526;AY699265;BC053563;NR_029493 Hs.444569 1650041;1675367;1697200;1744883;2131691 D17F294S2;RH102091;RH46129;RH91780;SHGC-64257 MIRN21;hsa-mir-21;miR-21;miRNA21 APPROVED miscrna ENSG00000199004 31586 611020 PROVISIONAL 1347029 MIR26A1 microRNA 26a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p22.2 37945267 37945343 + 37985898 37985974 + 38010895 38010971 + 6480464 19138993;18713946;11679670;22139073;14573789;15183728;15325244;15978578;16381832;17604727;17616659;20585341;19701194;19812400;19851984;20130213;20230625;20952513;20525681;21199804;20732906;20889907;20857419;23543060;22409234;21610700;22469510;22194877;22384020;23190898;23096114;23338972;23525216;23108995;22885155 407015 ABBA01024840;AC105752;AJ421747;AMYH01013088;NR_029499 1661327 D3S3077 MIR26A;MIRN26A1 APPROVED miscrna 31610 612151 PROVISIONAL 1345708 MIR27A microRNA 27a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 p13.13 13808253 13808330 - 13947254 13947331 - 6480464 22614734;22415478;19114653;18789835;18619946;17546506;11679670;20666778;20646448;20382698;20558719;19513126;19574223;19921425;19948051;19950226;20638779;11914277;15325244;16381832;17604727;17616659;20815877;20624637;20708603;19960259;22505583;23240057;21960590;22018270;23650389;21558443;21569481;21460851;22184411;23236401;21593605;21597324;22895821;23034448;23118855;22719192;23322776;23449803;23524006;22761427 407018 ABBA01029712;AC020916;AF480561;AJ421749;AMYH01009513;NR_029501 MIR27;MIRN27A APPROVED miscrna ENSG00000207808 31613 612153 PROVISIONAL 5133849 MIR2682 microRNA 2682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 98510798 98510907 - 21911355;16381832;20224791;21199797 100616452 ABBA01045470;AC104453;AMYH01000819;NR_039604 APPROVED miscrna ENSG00000265779 41688 PROVISIONAL 1343068 MIR27B microRNA 27b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 68288758 68288854 + 96887547 96887643 + 97847727 97847823 + 6480464 22120719;16982751;12007417;12554860;14573789;16381832;17604727;17616659;19800867;20131257;20164187;20388705;20889907;20888330;23338610;21922148;21899661;22902387;22777896;22213330;20495621;22184411;21562928;22077423;22127852;23300597 407019 ABBA01043625;AL354893;AMYH01021532;NR_029665 MIR-27b;MIRN27B;miRNA27B APPROVED miscrna ENSG00000207864 31614 610636 PROVISIONAL 3184212 MIR297 microRNA 297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 q25 109075577 109075642 - 111781738 111781803 - 6480464 16381832;17322031;22676135 100126354 ABBA01063799;AC024198;AMYH01014462;NR_030643 MIRN297;hsa-mir-297 APPROVED miscrna ENSG00000215961 33691 PROVISIONAL 4108998 MIR2861 microRNA 2861 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2011] 9 9 101199060 101199149 + 130548197 130548286 + 7240710 16381832;19920351 100422910 ABBA01043844;AL162586;AMYH01021734;NG_029812;NR_036055 BMND15;MIRN2861 APPROVED miscrna 38221 613405;613418 REVIEWED 4108947 MIR2909 microRNA 2909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 32213141 32213209 + 35391042 35391110 + 16381832 100422969 ABBA01012434;AC023315;AMYH01008361;NR_036056 APPROVED miscrna 38372 PROVISIONAL 1349952 MIR296 microRNA 296 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.32 54133130 54133209 - 57392670 57392749 - 6480464 21138859;19926710;20485139;20561597;12919684;15183728;15634332;16381832;17604727;17616659;21724611;21643016;23468506;22999387 407022 ABBA01005969;AL132655;AMYH01012023;NR_029844 MIRN296;miRNA296 APPROVED miscrna ENSG00000207950 31617 610945 PROVISIONAL 1342536 MIR28 microRNA 28 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q28 186838595 186838680 + 189889262 189889347 + 188406569 188406654 + 6480464 19236753;11679670;20445018;16381832;17604727;17616659;18230126;22240480;21638050 407020 ABBA01058353;AC063932;AJ421750;AMYH01013752;NR_029502 MIRN28;hsa-mir-28;miR-28 APPROVED miscrna 31615 612154 PROVISIONAL 2290256 MIR298 microRNA 298 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.32 54133741 54133828 - 56826675 56826762 - 57393281 57393368 - 6480464 16381832;17604727;22521303 100126296 ABBA01005969;AL132655;AMYH01012023;NR_030580 MIRN298;hsa-mir-298 APPROVED miscrna ENSG00000216031 33634 614914 PROVISIONAL 1345678 MIR299 microRNA 299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81546163 81546225 + 100559883 100559945 + 101490131 101490193 + 6480464 21364636;12919684;15634332;15891114;16381832;17604727;20889907;19538464 407023 ABBA01048514;AL132709;AMYH01006016;NR_029841 MIRN299 APPROVED miscrna 31618 PROVISIONAL 1347397 MIR29A microRNA 29a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q32.3 130212045 130212108 - 130561506 130561569 - 6480464 22018950;19347736;19102781;18977326;18723672;16236258;22772450;22348113;22426940;22493297;18434550;20067797;20086245;20167074;20212066;11679670;12554860;14573789;15183728;15325244;16381832;17604727;17616659;20158877;20889907;20551325;20566844;20564213;21187425;21030553;23113351;23100393;21330653;21471522;21646425;23541945;22940552;22194605;21625215;21678057;21998710;22072783;23079660;22010139;22095981;22981932;23113544;23426367;23389914;23023935;23285022;23401122;22712836;22952654 407021 AACC02000027;ABBA01057578;AC016831;AJ421751;AMYH01017940;CH236950;NR_029503 MIRN29;MIRN29A;hsa-mir-29;hsa-mir-29a;miRNA29A APPROVED miscrna 31616 610782 PROVISIONAL 1347389 MIR29B1 microRNA 29b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.3 125313299 125313379 - 130212757 130212837 - 130562218 130562298 - 6480464 19211935;19048628;17204650;20479936;11914277;15183728;16381832;17604727;17616659;20628397;18434550;19956414;19966860;20564213;20566844;21359530;21793034;21951844;22096249;23428668;23459615;22716646 407024 AACC02000027;ABBA01057578;AC016831;AF480500;AF480541;AF480542;AMYH01017940;CH236950;NR_029517 MIRN29B1;miRNA29B1 APPROVED miscrna ENSG00000207748 31619 610783 PROVISIONAL 5134098 MIR2964A microRNA 2964a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 131154900 131154987 + 21911355;16381832;21199797 100616335 ABBA01043877;AL359091;AMYH01021744;NR_039815 APPROVED miscrna 41823 PROVISIONAL 1343298 MIR29B2 microRNA 29b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.2 181206266 181206346 - 206042410 206042490 - 207975788 207975868 - 19048628;12624257;20479936;20167074;11914277;15183728;16381832;17604727;17616659;22096249 407025 ABBA01048240;AF480543;AJ550397;AL035209;AMYH01001691;NR_029518 MIRN29B2;mir-29b-2 APPROVED miscrna ENSG00000207790 31620 PROVISIONAL 2290255 MIR300 microRNA 300 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81563757 81563839 + 100577452 100577534 + 101507700 101507782 + 6480464 16381832;17604727 100126297 ABBA01048514;AL132709;AMYH01006017;NR_030582 MIRN300;hsa-mir-300 APPROVED miscrna ENSG00000215957 33636 PROVISIONAL 1351109 MIR29C microRNA 29c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q32.2 181205675 181205762 - 206041819 206041906 - 207975197 207975284 - 6480464 19158830;19144983;18390668;21081840;12007417;12554860;16381832;17604727;17616659;20889907;21551130;22850539;21436257;21763284;22095981;23056289;23175151;23142282 407026 ABBA01048240;AL035209;AMYH01001691;NR_029832 1676354;1687650;2150694 RH80636;RH98868;SHGC-76280 MIRN29C;miRNA29C APPROVED miscrna ENSG00000207966 31621 610784 PROVISIONAL 2290237 MIR301B microRNA 301b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 5824810 5824887 + 20337269 20337346 + 22007270 22007347 + 6480464 16381832;16954537;17604727;20470754 100126318 ABBA01055056;AMYH01012636;AP000553;NR_030622 MIRN301B APPROVED miscrna ENSG00000212102 33667 PROVISIONAL 1349629 MIR302B microRNA 302b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863734 110863806 - 113789089 113789161 - 113569641 113569713 - 6480464 22511267;18930031;15183728;16381832;17604727;21878650 442894 ABBA01063816;AC106864;AMYH01014469;NG_032779;NR_029857 MIRN302B APPROVED miscrna ENSG00000199058 31763 614597 VALIDATED 3516309 MIR302E microRNA 302e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 p15.4 7375094 7375165 + 7255997 7256068 + 16381832;18285502 100313774 ABBA01028678;AC027804;AMYH01003369;NR_031683 MIRN302E APPROVED miscrna ENSG00000221703 35348 PROVISIONAL 1344588 MIR302C microRNA 302c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863612 110863679 - 113788967 113789034 - 113569519 113569586 - 6480464 22511267;19684618;15183728;17604727;16381832 442895 ABBA01063816;AC106864;AMYH01014469;NG_032779;NR_029858 MIRN302C APPROVED miscrna ENSG00000199102 31764 614598 VALIDATED 1352286 MIR302D microRNA 302d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863253 110863320 - 113788608 113788675 - 113569160 113569227 - 6480464 15183728;16381832;17604727;20889907 442896 ABBA01063816;AC106864;AMYH01014469;NG_032779;NR_029859 MIRN302D APPROVED miscrna ENSG00000199145 31765 614599 VALIDATED 1352230 MIR302A microRNA 302a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863432 110863500 - 113788787 113788855 - 113569339 113569407 - 6480464 19386261;19342891;18710938;22511267;12919684;15183728;15634332;16381832;17604727;22732186;21062975;22988237;21266536;21454525;23185040;21490602;22012620;22515122;20495621;22384170;23256541;23136034;22847005 407028 ABBA01063816;AC106864;AMYH01014469;NG_032779;NR_029835 MIRN302;MIRN302A;hsa-mir-302 APPROVED miscrna ENSG00000207927 31623 614596 VALIDATED 2974682 MIR302F microRNA 302f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 q12.1 24686106 24686156 + 27878876 27878926 + 16381832;18285502 100302131 ABBA01022524;AC115100;AMYH01008918;NR_031684 MIRN302F;hsa-mir-302f APPROVED miscrna 35349 PROVISIONAL 1345841 MIR301A microRNA 301a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q22 53691496 53691581 - 54583278 54583363 - 57228497 57228582 - 22373864;20470754;21175428;12919684;15183728;15634332;16381832;17604727;22628193 407027 ABBA01041364;AC099850;AMYH01008517;NR_029842 MIRN301;MIRN301A APPROVED miscrna 31622 PROVISIONAL 4109066 MIR3074 microRNA 3074 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 q22.32 68289327 68289407 - 97848296 97848376 - 16381832;20300190;21199797 100422842 ABBA01043625;AL354893;AMYH01021532;NR_036109 1652635;1850109;1850111;2135688 A006I15;G20840;RH18210;RH41810 APPROVED miscrna ENSG00000207617 38268 PROVISIONAL 4108993 MIR3065 microRNA 3065 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 75727850 75727928 + 79099677 79099755 + 16381832;20300190;20483914;21199797 100422915 ABBA01032125;AC115099;AMYH01008706;NG_029981;NR_036151 APPROVED miscrna ENSG00000211563 38234 VALIDATED 1349241 MIR30B microRNA 30b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.22 131985504 131985591 - 135881944 135882031 - 135812763 135812850 - 6480464 20347265;12007417;16381832;17604727;17616659;20889907;23249809;21741600;22880027 407030 ABBA01012699;AC083843;AMYH01019041;NR_029666 MIRN30B APPROVED miscrna ENSG00000207582 31625 PROVISIONAL 1351898 MIR30C1 microRNA 30c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p34.2 39505156 39505244 + 40995542 40995630 + 41222956 41223044 + 6480464 20490652;19138993;19048628;19851984;12007417;15325244;15634332;15978578;16381832;17604727;17616659;20732906;20889907;23159078 407031 ABBA01023162;AL354914;AMYH01000538;NR_029833 MIRN30C1 APPROVED miscrna 31626 615151 PROVISIONAL 1348464 MIR30C2 microRNA 30c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q13 72475116 72475187 - 72143383 72143454 - 72086663 72086734 - 6480464 22431749;19048628;12007417;15325244;15634332;15978578;16381832;17604727;17616659;20889907;21878751;22952991;22024689 407032 ABBA01040282;AL136164;AMYH01016417;NR_029598 1754539;1769465 SHGC-132820;SHGC-52659 MIRN30C2 APPROVED miscrna ENSG00000199094 31627 PROVISIONAL 1352516 MIR30A microRNA 30a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q13 72501691 72501761 - 72169974 72170044 - 72113254 72113324 - 6480464 19138993;19289845;18632683;17604727;20498642;11679670;11914277;14573789;15325244;16381832;17616659;19535919;19851984;19965479;22476851;20169152;20732906;20889907;21187425;21099261;23383034;23236408;22287560;22157765;21633953;22384020;23287430 407029 ABBA01040282;AF480535;AF480569;AJ421752;AL035467;AMYH01016417;NR_029504 1769453 WI-11027 MIRN30A APPROVED miscrna ENSG00000207827 31624 612329 PROVISIONAL 5134070 MIR3064 microRNA 3064 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 62496892 62496957 - 16381832;21199797 100616387 ABBA01035296;AC009994;AC234063;AMYH01008560;NR_039891 APPROVED miscrna 41652 PROVISIONAL 1354313 MIR30E microRNA 30e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p34.2 39502227 39502318 + 40992613 40992704 + 41220027 41220118 + 6480464 12007417;12919684;15325244;15634332;16381832;17604727;17616659;20579744;20347265;20309880;22156201;22649192 407034 ABBA01023162;AL354914;AMYH01000538;NR_029846 MIRN30E APPROVED miscrna 31629 PROVISIONAL 4109005 MIR3116-1 microRNA 3116-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 60833416 60833489 + 62544458 62544531 + 16381832;20300190 100422902 AL136458;AMYH01000666;NR_036058 APPROVED miscrna 38200 PROVISIONAL 4109034 MIR3117 microRNA 3117 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 65384468 65384545 + 67094123 67094200 + 21606961;16381832;20300190;21199797 100422871 ABBA01074532;AL139147;AMYH01000688;NR_036060 APPROVED miscrna 38385 PROVISIONAL 4108967 MIR3116-2 microRNA 3116-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 60833419 60833486 - 62544461 62544528 - 16381832;20300190;20224791 100422946 AL136458;AMYH01000666;NR_036059 APPROVED miscrna 38318 PROVISIONAL 4109042 MIR3115 microRNA 3115 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 21692934 21693001 + 23370798 23370865 + 16381832;20300190;21199797 100422866 ABBA01059861;AL031428;AMYH01000356;NR_036057 APPROVED miscrna 38371 PROVISIONAL 1344201 MIR30D microRNA 30d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.22 131989860 131989929 - 135886300 135886369 - 135817119 135817188 - 6480464 12007417;16381832;17604727;17616659;17989717;20935678;21741600;22058146;22782668;23272089 407033 ABBA01012699;AC083843;AMYH01019041;NR_029599 2131864 RH48213 MIRN30D APPROVED miscrna ENSG00000199153 31628 PROVISIONAL 1343532 MIR31 microRNA 31 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 p21.3 21502113 21502183 - 21512114 21512184 - 6480464 19524507;19408243;19242066;19127597;18971265;11679670;22089331;22301433;20479124;21212803;19949084;20145132;20179198;20237410;20463022;16381832;17604727;17616659;22719913;22891326;20233326;20889907;19598010;22690848;20826792;20980827;21048943;21062447;20848542;21368878;22511990;21416501;23019418;22736314;21105030;21890451;22020941;22289355;22264793;22302717;22344632;22057972;22854067;22948084;23322774;23364795;23539435;23518389;23233723;23144465 407035 ABBA01065176;AJ421753;AL353732;AMYH01019275;NR_029505 MIRN31;hsa-mir-31;miR-31 APPROVED miscrna ENSG00000199177 31630 612155 PROVISIONAL 4108959 MIR3118-2 microRNA 3118-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 143163750 143163822 + 16381832;20300190 100422949 AMYH01001014;BX571672;NR_036062 APPROVED miscrna ENSG00000265661 38324 PROVISIONAL 4108978 MIR3118-4 microRNA 3118-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 21038124 21038198 + 16381832;20300190 100422935 AC012414;AMYH01006323;NR_036134 APPROVED miscrna ENSG00000265322 38287 PROVISIONAL 4109061 MIR3118-3 microRNA 3118-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 41359875 41359949 - 143424141 143424215 - 16381832;20300190 100422844 ABBA01031127;AMYH01001022;BX004987;NR_036063 APPROVED miscrna ENSG00000266811 38274 PROVISIONAL 4109019 MIR3118-5 microRNA 3118-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 15017096 15017171 - 16381832;20300190 100422890 AP001465;NR_036165 APPROVED miscrna ENSG00000266299 38351 PROVISIONAL 4108899 MIR3118-1 microRNA 3118-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 142667289 142667363 + 16381832;20300190 100423008 AL583842;AMYH01001004;NR_036061 APPROVED miscrna ENSG00000265715 38265 PROVISIONAL 4109003 MIR3118-6 microRNA 3118-6 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 22049274 22049348 + 16381832;20300190 100422906 AC183089;AMYH01006219;NR_036269 APPROVED miscrna ENSG00000265793 38210 PROVISIONAL 4109067 MIR3119-1 microRNA 3119-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 143230335 143230419 - 170120519 170120603 - 16381832;20300190 100422839 ABBA01027944;AL445203;AMYH01001490;NR_036064 APPROVED miscrna 38253 PROVISIONAL 4109026 MIR3120 microRNA 3120 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 145217379 145217459 + 172107948 172108028 + 16381832;20300190;21199797;22393045 100422882 ABBA01027921;AL137157;AMYH01001497;NR_036066 APPROVED miscrna 38295 614722 PROVISIONAL 4108964 MIR3122 microRNA 3122 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 185478036 185478108 + 212250955 212251027 + 16381832;20300190 100422947 ABBA01048185;AL606468;AMYH01001703;NR_036068 APPROVED miscrna 38320 PROVISIONAL 4108869 MIR3121 microRNA 3121 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 153514316 153514392 - 180407449 180407525 - 16381832;20300190;20224791;21199797 100423032 ABBA01027794;AL445469;AMYH01001537;NR_036067 APPROVED miscrna 38259 PROVISIONAL 4109029 MIR3124 microRNA 3124 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 222281813 222281879 + 249120576 249120642 + 16381832;20300190;20224791;21199797 100422879 ABBA01002095;AL732583;AMYH01001952;NR_036070 APPROVED miscrna ENSG00000264500 38262 PROVISIONAL 4109050 MIR3123 microRNA 3123 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 214550932 214551006 + 241295572 241295646 + 16381832;20300190 100422856 ABBA01033245;AL512307;AMYH01001875;NR_036069 APPROVED miscrna ENSG00000265831 38330 PROVISIONAL 4108926 MIR3125 microRNA 3125 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 12794257 12794335 + 12877493 12877570 + 16381832;20300190 100422986 ABBA01015664;AC009486;AMYH01010121;NR_036072 1673728 G19140 APPROVED miscrna 38219 PROVISIONAL 4108991 MIR3127 microRNA 3127 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 91904180 91904255 + 97464015 97464090 + 16381832;20300190;21199797 100422928 ABBA01036579;AC092636;AMYH01010726;NR_036074 APPROVED miscrna 38269 PROVISIONAL 4109083 MIR3128 microRNA 3128 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 171723105 171723170 - 178120673 178120738 - 16381832;20300190;21199797 100422824 ABBA01062231;AC079305;AMYH01011297;NR_036075 APPROVED miscrna 38188 PROVISIONAL 1605910 MIR22HG MIR22 host gene (non-protein coding) 17 17 17 p13.3 1630502 1635274 - 1561553 1566255 - 1614798 1619566 - 6480464 12477932;9110174;8619474;16341674;16344560;20705733;23022100 84981 Q0VDD5 ABBA01054671;AC130343;AF070569;AI147777;AMYH01008004;BC007813;BC070225;BC119720;BC119721;BI756450;BM755383;BX509423;BX640650;BX648321;CH471108;DA543295;NR_028502;NR_028503;NR_028504;NR_028505 AAI19721;AAI19722;EAW90585;EAW90586;Q0VDD5 Hs.597755 1662359;2175687 RH12131;WI-17501 C17orf91;DKFZp686O06159;MGC14376;MGC149751 APPROVED miscrna ENSG00000186594 28219 17497 VALIDATED 4108894 MIR3119-2 microRNA 3119-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 143230335 143230419 + 170120519 170120603 + 16381832;20300190 100423010 ABBA01027944;AL445203;AMYH01001490;NR_036065 APPROVED miscrna 38315 PROVISIONAL 4108867 MIR3126 microRNA 3126 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 69181838 69181911 + 69330814 69330887 + 16381832;19784364;20300190;20224791;21199797 100423030 ABBA01075492;AC112230;AMYH01010419;NR_036073 APPROVED miscrna 38225 PROVISIONAL 4109000 MIR3129 microRNA 3129 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 183592841 183592916 - 189997762 189997837 - 16381832;20300190;20224791;21199797 100422908 ABBA01062376;AC064833;AMYH01011343;NR_036076 APPROVED miscrna 38217 PROVISIONAL 4108891 MIR3130-2 microRNA 3130-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Aug 2010] 2 2 201409389 201409463 + 207647958 207648032 + 16381832;20300190;20224791;21199797 100423002 AC008269;AMYH01011441;NR_036078 MIR3130-4 APPROVED miscrna 38363 PROVISIONAL 4108919 MIR3130-1 microRNA 3130-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Aug 2010] 2 2 201409389 201409463 - 207647958 207648032 - 16381832;20300190;20224791;21199797 100422993 AC008269;AMYH01011441;NR_036077 MIR3130-3 APPROVED miscrna 38275 PROVISIONAL 4108953 MIR3131 microRNA 3131 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 213693102 213693164 - 219923410 219923472 - 16381832;20300190;21199797 100422957 ABBA01023853;AC097468;AMYH01011503;NR_036081 APPROVED miscrna 38347 PROVISIONAL 4108927 MIR3134 microRNA 3134 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 15676943 15677016 - 15738805 15738878 - 16381832;20300190 100422990 ABBA01025137;AC090950;AMYH01013002;NR_036085 APPROVED miscrna 38254 PROVISIONAL 4108860 MIR3132 microRNA 3132 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 214183758 214183832 - 220413795 220413869 - 16381832;20300190 100423039 ABBA01023840;AC009955;AMYH01011509;NR_036082 1803100;1805038;1964882;1964884;1964886;1964888;1964890;1964892;1964894;1964896;1964898;1964900;1964902 ECD02441;ECD03460;REN53315;REN53316;REN53317;REN53318;REN53319;REN53320;REN53321;REN53322;REN53323;REN53324;REN53325 APPROVED miscrna ENSG00000265252 38373 PROVISIONAL 4108969 MIR3133 microRNA 3133 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 236086860 236086937 + 242417320 242417397 + 16381832;20300190 100422942 ABBA01006047;AC005104;AMYH01011633;NR_036083 APPROVED miscrna 38305 PROVISIONAL 4109006 MIR3135A microRNA 3135a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 20119676 20119752 + 20179057 20179133 + 16381832;20300190 100422901 ABBA01025087;AC099057;AMYH01013015;NR_036086 1706638 SHGC-82800 MIR3135;hsa-mir-3135a APPROVED miscrna 38199 PROVISIONAL 4108985 MIR3137 microRNA 3137 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 194855235 194855309 - 16381832;20300190 100422926 ABBA01001617;AC106705;AMYH01013785;NR_036089 APPROVED miscrna 38263 PROVISIONAL 5133971 MIR3135B microRNA 3135b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 32717689 32717756 - 16381832;20733160 100616218 ABBA01038131;AL672104;AL713890;AL773543;AMYH01016239;BX296564;BX927160;CR753846;CR759848;CR936921;NR_039668 APPROVED miscrna ENSG00000263649 41783 PROVISIONAL 4108890 MIR3138 microRNA 3138 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 10562601 10562682 - 10080235 10080316 - 16381832;20300190;20224791 100423011 ABBA01032512;AC005674;AMYH01013994;NG_027876;NR_036090 APPROVED miscrna 38341 VALIDATED 4108962 MIR3141 microRNA 3141 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 150051128 150051188 - 153975572 153975632 - 16381832;20300190 100422950 ABBA01026233;AC112175;AMYH01015730;NR_036094 APPROVED miscrna ENSG00000264760 38326 PROVISIONAL 4109918 MIR3143 microRNA 3143 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 28721406 28721468 + 27115405 27115467 + 16381832;20300190;21199797 100422934 ABBA01037988;AL021807;AMYH01016186;NR_036096 APPROVED miscrna ENSG00000265565 38284 PROVISIONAL 4108893 MIR3145 microRNA 3145 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 139496486 139496567 - 138756350 138756431 - 16381832;20300190;21199797 100423001 ABBA01025809;AL391669;AMYH01016703;NR_036099 APPROVED miscrna 38327 PROVISIONAL 4109009 MIR3144 microRNA 3144 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 121080654 121080732 + 120336325 120336403 + 20224791;16381832;20300190 100422951 ABBA01026011;AL049613;AMYH01016626;NR_036098 APPROVED miscrna ENSG00000265725 38331 PROVISIONAL 4109048 MIR3136 microRNA 3136 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 69026215 69026292 - 69098109 69098186 - 21606961;16381832;20300190;21199797 100422859 ABBA01030898;AC109587;AMYH01013260;NR_036087 APPROVED miscrna 38340 PROVISIONAL 4108971 MIR3142 microRNA 3142 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 155933925 155934006 + 159901451 159901532 + 16381832;20300190 100422938 ABBA01044218;AC091842;AMYH01015760;NR_036095 APPROVED miscrna 38297 PROVISIONAL 4108880 MIR3139 microRNA 3139 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 141594540 141594615 + 144264613 144264688 + 16381832;20300190 100423017 ABBA01070001;AC097658;AMYH01014582;NR_036091 APPROVED miscrna 38201 PROVISIONAL 4108942 MIR3146 microRNA 3146 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 19729282 19729360 - 19744981 19745059 - 16381832;20300190;21199797 100422967 AACC02000007;ABBA01056660;AC004940;AMYH01017100;CH236948;NR_036101 APPROVED miscrna 38368 PROVISIONAL 4108946 MIR3150A microRNA 3150a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 92270364 92270443 + 96085142 96085221 + 16381832;20300190;21199797 100422964 AC068189;AMYH01018898;NR_036105 MIR3150 APPROVED miscrna 38362 PROVISIONAL 4888759 MIR3150B microRNA 3150b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 96085139 96085224 - 21606961;16381832;20224791;21199797 100500907 AC068189;AMYH01018898;NR_037484 APPROVED miscrna ENSG00000265256 38938 PROVISIONAL 4109027 MIR3140 microRNA 3140 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 150734263 150734352 - 153410479 153410568 - 21606961;16381832;20300190;20224791;21199797 100422896 ABBA01070123;AC023424;AMYH01014621;NG_029466;NR_036092 APPROVED miscrna ENSG00000264678 38183 VALIDATED 4108972 MIR3147 microRNA 3147 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 56189292 56189357 + 57472731 57472796 + 16381832;20300190 100422939 ABBA01028302;AC073057;AC237221;AMYH01017334;NR_036102 APPROVED miscrna ENSG00000266168 38300 PROVISIONAL 4108973 MIR3153 microRNA 3153 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 62509302 62509383 + 91927140 91927221 + 16381832;20300190 100422936 ABBA01004612;AL160054;AMYH01021494;NR_036108 APPROVED miscrna 38289 PROVISIONAL 4108932 MIR3155A microRNA 3155a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 6123484 6123565 + 6194159 6194240 + 16381832;20300190 100422989 ABBA01034769;AL157395;AMYH01002002;NR_036111 MIR3155;hsa-mir-3155a APPROVED miscrna 38245 PROVISIONAL 4108924 MIR3156-1 microRNA 3156-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 41662667 41662741 + 45659462 45659536 + 16381832;20300190;21199797 100422988 ABBA01050025;AL358394;AMYH01002298;NR_036112 APPROVED miscrna ENSG00000263476 38241 PROVISIONAL 4109015 MIR3154 microRNA 3154 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 q34 101658130 101658213 - 131007226 131007309 - 21606961;16381832;16954537;19784364;20300190 100422893 ABBA01043872;AL590708;AMYH01021743;NG_029726;NR_036110 APPROVED miscrna ENSG00000264823 38176 VALIDATED 4109030 MIR3148 microRNA 3148 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 28774014 28774090 - 29814788 29814864 - 16381832;20300190;23468661 100422876 ABBA01023675;AC131254;AMYH01018616;NR_036104 APPROVED miscrna ENSG00000264788 38215 PROVISIONAL 4108922 MIR3151 microRNA 3151 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 100353679 100353752 + 104166842 104166917 + 21606961;22529287;16381832;20300190 100422992 AC025370;AMYH01018944;NR_036106 APPROVED miscrna 38266 PROVISIONAL 4109038 MIR3152 microRNA 3152 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 18499733 18499806 + 18573304 18573377 + 16381832;16954537;20300190;20224791;21199797 100422869 ABBA01065223;AL449963;AMYH01019265;NR_036107 APPROVED miscrna 38379 PROVISIONAL 4108999 MIR3156-2 microRNA 3156-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 29368 29444 - 14830165 14830241 + 16381832;20300190;21199797 100422907 AMYH01008865;AP006565;NR_036153 APPROVED miscrna 38213 PROVISIONAL 4109895 MIR3156-3 microRNA 3156-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 14778705 14778781 - 16381832;20300190;21199797 100423018 ABBA01030838;AL050302;AMYH01012131;NR_036164 APPROVED miscrna ENSG00000266211 38229 PROVISIONAL 4108868 MIR3158-2 microRNA 3158-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 97099960 97100040 - 103361174 103361254 - 16381832;20300190;20224791 100423033 AL627424;AMYH01003008;NR_036115 APPROVED miscrna 38279 PROVISIONAL 4109007 MIR3158-1 microRNA 3158-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 97099960 97100040 + 103361174 103361254 + 16381832;20300190;20224791;21199797 100422900 AL627424;AMYH01003008;NR_036114 APPROVED miscrna 38196 PROVISIONAL 4109077 MIR3160-1 microRNA 3160-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 46473355 46473439 - 16381832;20300190;21199797 100422827 AC115097;AMYH01003535;NR_036117 APPROVED miscrna 38197 PROVISIONAL 4108879 MIR3159 microRNA 3159 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 37722648 37743105 + 18409334 18409407 + 16381832;20300190 100423016 ABBA01061057;AC084117;AMYH01003421;NR_036116 1775080 RH65993 APPROVED miscrna ENSG00000264603 38181 VALIDATED 4108870 MIR3163 microRNA 3163 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 64030181 64030253 - 66701905 66701977 - 16381832;20300190 100423029 ABBA01024058;AMYH01003737;AP003176;NR_036121 APPROVED miscrna ENSG00000266423 38209 PROVISIONAL 4109059 MIR3164 microRNA 3164 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 66190730 66190812 + 68850644 68850726 + 16381832;20300190 100422846 ABBA01023972;AMYH01003770;AP003071;NR_036122 APPROVED miscrna 38288 PROVISIONAL 4109028 MIR3162 microRNA 3162 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 56725288 56725369 - 59362550 59362631 - 16381832;20300190;21199797 100422880 ABBA01021504;AMYH01003661;AP000442;NR_036120 APPROVED miscrna 38271 PROVISIONAL 4109076 MIR3160-2 microRNA 3160-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 46473357 46473437 + 16381832;20300190;21199797 100422825 AC115097;AMYH01003535;NR_036118 APPROVED miscrna 38192 PROVISIONAL 4108861 MIR3166 microRNA 3166 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 86722341 86722432 - 87909670 87909761 + 16381832;20300190 100423040 AMYH01003863;AP001642;NR_036124 APPROVED miscrna ENSG00000266581 38386 PROVISIONAL 4109047 MIR3157 microRNA 3157 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 91565288 91565372 - 97824072 97824156 - 16381832;20300190;21199797 100422892 ABBA01021832;AL356155;AMYH01002970;NR_036113 APPROVED miscrna ENSG00000266407 38172 PROVISIONAL 4108958 MIR3165 microRNA 3165 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 69085210 69085284 - 71783274 71783348 - 16381832;20300190;21199797 100422953 AMYH01003791;AP002490;NR_036123 APPROVED miscrna ENSG00000263742 38335 PROVISIONAL 4108896 MIR3161 microRNA 3161 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 48270725 48270801 + 48118334 48118410 + 16381832;20300190 100423000 ABBA01060682;AC026975;AMYH01003555;NR_036119 APPROVED miscrna 38285 PROVISIONAL 4108990 MIR3167 microRNA 3167 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 124025234 124025318 - 126858354 126858438 - 20224791;16381832;20300190;20195266 100422918 ABBA01022998;AMYH01004114;AP002833;NR_036126 APPROVED miscrna 38242 PROVISIONAL 4109032 MIR3168 microRNA 3168 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 22732589 22732670 - 41675155 41675236 - 16381832;20300190 100422878 ABBA01021281;AL161775;AMYH01005061;NR_036127 APPROVED miscrna ENSG00000264226 38249 PROVISIONAL 4108938 MIR3169 microRNA 3169 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 42733927 42734009 - 61773932 61774014 - 16381832;20300190 100422973 ABBA01050229;AL627427;AMYH01005160;NR_036128 APPROVED miscrna ENSG00000266663 38380 PROVISIONAL 4109025 MIR3170 microRNA 3170 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 79708210 79708286 + 98860778 98860854 + 16381832;20300190;21199797 100422881 ABBA01027145;AL136300;AMYH01005320;NR_036129 1666330;7185243 D13S128 APPROVED miscrna ENSG00000263399 38282 PROVISIONAL 4109080 MIR3172 microRNA 3172 16381832;20300190 100422822 AL132988;NR_036130 miscrna 38177 4108931 MIR3173 microRNA 3173 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 75660375 75660442 - 95604256 95604323 - 16381832;20300190;21199797 100422981 ABBA01030405;AL356017;AMYH01005973;NR_036131 APPROVED miscrna ENSG00000264607 38174 PROVISIONAL 4108864 MIR3176 microRNA 3176 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 793663 793752 + 593277 593366 + 16381832;20300190;21199797 100423037 ABBA01030364;AMYH01006995;NR_036137;Z97986 APPROVED miscrna ENSG00000266235 38345 PROVISIONAL 4108920 MIR3175 microRNA 3175 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 69859482 69859558 + 93447629 93447705 + 16381832;20300190;20224791;21199797 100422995 ABBA01053103;AC013394;AMYH01006936;NR_036136 APPROVED miscrna 38299 PROVISIONAL 4109063 MIR3174 microRNA 3174 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 66953087 66953173 + 90549987 90550073 + 16381832;20300190 100422841 ABBA01053036;AC087284;AMYH01006920;NR_036135 APPROVED miscrna ENSG00000265871 38264 PROVISIONAL 4108937 MIR3178 microRNA 3178 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 2796859 2796942 - 2581923 2582006 - 16381832;20300190 100422974 ABBA01030250;AC093525;AMYH01007059;NR_036139 APPROVED miscrna ENSG00000266232 38381 PROVISIONAL 4108955 MIR3179-1 microRNA 3179-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 p13.11 14995365 14995448 + 16381832;20300190;20224791;21199797 100422960 ABBA01153444;AC136443;AMYH01007182;NR_036140 APPROVED miscrna ENSG00000265162 38353 PROVISIONAL 4108884 MIR3177 microRNA 3177 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 1997260 1997341 + 1784986 1785067 + 21606961;16381832;20300190;21199797 100423012 ABBA01030297;AL031717;AMYH01007039;NR_036138 APPROVED miscrna 38364 PROVISIONAL 4109022 MIR3179-2 microRNA 3179-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 p13.11 16394016 16394099 + 16381832;20300190;21199797 100422886 AC136624;NR_036143 APPROVED miscrna ENSG00000266091 38325 PROVISIONAL 4108888 MIR3179-3 microRNA 3179-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 p12.3 18505751 18505834 - 16381832;20300190;21199797 100423006 AC126755;AMYH01007182;NR_036145 APPROVED miscrna ENSG00000266454 38214 PROVISIONAL 4108957 MIR3180-2 microRNA 3180-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16403736 16403823 + 16381832;20300190;21199797 100422956 AC138969;AMYH01007182;NR_036142 APPROVED miscrna ENSG00000265373 38343 PROVISIONAL 4109036 MIR3180-1 microRNA 3180-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 15005077 15005170 + 16381832;20300190;20224791;21199797 100422870 AC138932;AMYH01007182;NR_036141 APPROVED miscrna ENSG00000265537 38382 PROVISIONAL 4109068 MIR3180-3 microRNA 3180-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 2400446 2400539 - 18496035 18496128 - 16381832;20300190 100422836 AC126755;AMYH01007182;NR_036144 APPROVED miscrna ENSG00000266291 38239 PROVISIONAL 4109057 MIR3182 microRNA 3182 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 67843702 67843764 + 83541951 83542013 + 16381832;20300190 100422853 ABBA01016935;AC106814;AMYH01007860;NR_036147 APPROVED miscrna 38317 PROVISIONAL 4109069 MIR3183 microRNA 3183 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 937745 937828 - 925716 925799 - 21606961;16381832;20300190;21199797 100422835 ABBA01054633;AC015884;AMYH01007983;NR_036148 APPROVED miscrna 38237 PROVISIONAL 4108892 MIR3184 microRNA 3184 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 25305705 25305779 - 28444104 28444178 - 16381832;20300190 100423003 ABBA01015005;AC104984;AMYH01008298;NR_036149 APPROVED miscrna 38182 PROVISIONAL 4108933 MIR3185 microRNA 3185 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 43255916 43255983 - 46801770 46801837 - 16381832;20300190 100422978 ABBA01041174;AC091179;AMYH01008456;NR_036150 APPROVED miscrna ENSG00000263602 38391 PROVISIONAL 4109053 MIR3187 microRNA 3187 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 2556 2625 - 813584 813653 + 16381832;20300190;21199797 100422854 ABBA01002597;AC006273;AMYH01009202;NR_036154 APPROVED miscrna ENSG00000263414;ENSG00000267754 38319 PROVISIONAL 4109079 MIR3188 microRNA 3188 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 18294628 18294712 + 18392887 18392971 + 16381832;20300190 100422833 ABBA01051256;AC008397;AMYH01009590;NR_036155 1792618 PMC155158P1 APPROVED miscrna ENSG00000266565 38226 PROVISIONAL 4108966 MIR3189 microRNA 3189 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 18399201 18399273 + 18497372 18497444 + 16381832;20300190;21199797 100422943 ABBA01158935;AC008397;AMYH01009591;NR_036156 1793724 PMC26624P1 APPROVED miscrna 38307 PROVISIONAL 4888827 MIR3180-4 microRNA 3180-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 15248707 15248859 - 16381832;20224791 100500852 AC126763;NR_037466 APPROVED miscrna ENSG00000264115 38920 PROVISIONAL 4109012 MIR3190 microRNA 3190 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 44534054 44534133 + 47730199 47730278 + 21606961;16381832;20300190 100422899 AC008532;AMYH01009877;NG_031991;NR_036158 APPROVED miscrna ENSG00000265134 38190 VALIDATED 4109073 MIR3191 microRNA 3191 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 44534056 44534131 - 47730201 47730276 - 16381832;20300190 100422832 AC008532;AMYH01009877;NG_031991;NR_036159 APPROVED miscrna 38222 VALIDATED 4108974 MIR3186 microRNA 3186 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 76065339 76065423 - 79418130 79418214 - 16381832;20300190;20224791 100422944 ABBA01032146;AC110285;AMYH01008714;NR_036152 APPROVED miscrna ENSG00000266189 38311 PROVISIONAL 4109031 MIR3192 microRNA 3192 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 18525348 18525424 + 18451259 18451335 + 16381832;20300190;21199797 100422875 ABBA01054047;AL121893;AMYH01011743;NR_036160 APPROVED miscrna 38202 PROVISIONAL 4888772 MIR3180-5 microRNA 3180-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2185978 2186130 - 16381832;20224791 100500916 ABBA01030273;AC009065;AMYH01007052;NR_037467 APPROVED miscrna ENSG00000264397 38969 PROVISIONAL 4109002 MIR3193 microRNA 3193 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 26951170 26951224 + 30194989 30195043 + 16381832;20300190 100422904 ABBA01019302;AL117381;AMYH01011830;NG_029639;NR_036161 1792656;1793442;2177493 PMC156147P2;PMC22262P1;WI-9304 APPROVED miscrna ENSG00000264395 38204 VALIDATED 4108882 MIR3196 microRNA 3196 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 58547614 58547677 + 61870131 61870194 + 16381832;20300190 100423014 ABBA01021393;AL121827;AMYH01012075;NG_029552;NR_036163 APPROVED miscrna 38198 VALIDATED 4109018 MIR3194 microRNA 3194 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 46773617 46773689 - 50069442 50069514 - 16381832;20300190;21199797 100422889 ABBA01052796;AL035682;AMYH01011981;NR_036162 APPROVED miscrna 38346 PROVISIONAL 5133858 MIR3198-2 microRNA 3198-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 54625181 54625260 - 16381832;20300190;21199797 100616400 ABBA01008366;AC078778;AMYH01004488;NR_039851 APPROVED miscrna ENSG00000265371 41766 PROVISIONAL 4108872 MIR3198-1 microRNA 3198-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 1866604 1866683 - 18246946 18247025 - 20300190;16381832;21199797 100423025 ABBA01001431;AC016026;AMYH01012439;NR_036168 MIR3198 APPROVED miscrna 38236 PROVISIONAL 4108917 MIR3199-2 microRNA 3199-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 12116479 12116564 + 28316514 28316599 + 16381832;20300190 100422998 AL031591;AMYH01012685;NR_036170 APPROVED miscrna 38205 PROVISIONAL 4108866 MIR3199-1 microRNA 3199-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 12116478 12116565 - 28316513 28316600 - 16381832;20300190 100423034 AL031591;AMYH01012685;NR_036169 APPROVED miscrna ENSG00000264073 38294 PROVISIONAL 4108989 MIR3201 microRNA 3201 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 32584130 32584181 + 48670176 48670227 + 16381832;20300190 100422916 ABBA01010485;AL008720;AMYH01012872;NR_036172 APPROVED miscrna ENSG00000266508 38235 PROVISIONAL 1348727 MIR32 microRNA 32 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q31.3 82307713 82307782 - 110848329 110848398 - 111808509 111808578 - 6480464 22709905;11679670;16381832;17604727;20889907;22266859;21687927;21816906;22431589 407036 ABBA01042773;AJ421754;AL354797;AMYH01021619;NR_029506 MIRN32;hsa-mir-32;miR-32;miRNA32 APPROVED miscrna 31631 609355 PROVISIONAL 4108874 MIR3197 microRNA 3197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 27737666 27737738 + 42539484 42539556 + 16381832;20300190 100423023 ABBA01044666;AL773572;AMYH01012262;NR_036167 1730869 D21S398 APPROVED miscrna ENSG00000263681 38366 PROVISIONAL 4108996 MIR3200 microRNA 3200 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 14927668 14927752 + 31127544 31127628 + 20224791;20459774;20532037;16381832;20300190;21199797 100422912 ABBA01055306;AL022336;AMYH01012710;NR_036171 APPROVED miscrna 38227 PROVISIONAL 4109044 MIR3202-2 microRNA 3202-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 153480256 153480334 - 153246549 153246627 - 16381832;20300190 100422877 AMYH01023305;NR_036175;U52112 1798770;1800650;2034790;2034792;2034794;2034796;2034798;2034800;2034802;2034804;2034806;2034808;2122836;2168949 DXS6989E;ECD00225;ECD01186;REN88404;REN88405;REN88406;REN88407;REN88408;REN88409;REN88410;REN88411;REN88412;REN88413;STS-X92475 APPROVED miscrna 38228 PROVISIONAL 4108925 MIR3202-1 microRNA 3202-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 153480255 153480335 + 153246548 153246628 + 16381832;20300190 100422987 AMYH01023305;NR_036174;U52112 2034788;2034790;2034792;2034794 REN88403;REN88404;REN88405;REN88406 APPROVED miscrna ENSG00000265176 38224 PROVISIONAL 2974684 MIR320B1 microRNA 320b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 115442881 115442959 + 117214371 117214449 + 16381832;16954537;18392026;23493781 100302117 ABBA01068493;AL356748;AMYH01000970;NR_031564 MIR320B-1;MIRN320B1;hsa-mir-320b-1 APPROVED miscrna ENSG00000211543 35247 PROVISIONAL 2974681 MIR320C1 microRNA 320c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 16069469 16069556 + 19263471 19263558 + 16381832;16954537;18392026;22674437 100302135 ABBA01022677;AC106037;AMYH01008876;NR_031565 MIR320C-1;MIRN320C1;hsa-mir-320c-1 APPROVED miscrna ENSG00000221493 35248 PROVISIONAL 4108994 MIR320E microRNA 320e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 q13.32 44016079 44016131 - 47212550 47212602 - 16381832;19784364;20300190 100422913 ABBA01040985;AC008635;AMYH01009869;NR_036157 APPROVED miscrna 38230 PROVISIONAL 2974675 MIR320D2 microRNA 320d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 140381991 140382038 - 140008337 140008384 - 16381832;18392026 100302169 ABBA01023106;AL451048;AMYH01023066;NR_031725 MIR320D-2;MIRN320D2;hsa-mir-320d-2 APPROVED miscrna ENSG00000221081 35388 PROVISIONAL 3516315 MIR320B2 microRNA 320b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 q42.11 197635647 197635784 - 224444706 224444843 - 16381832;16954537;18285502;18392026 100313769 ABBA01009703;AC092809;AMYH01001766;NG_029641;NR_031574 MIR320B-2;MIRN320B2 APPROVED miscrna 35256 VALIDATED 3497318 MIR320D1 microRNA 320d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 q14.11 22359422 22359469 - 41301964 41302011 - 16381832;18392026;23418466 100313896 ABBA01021292;AL355132;AMYH01005057;NR_031723 2169203;2169205 A005M06;G20325 MIR320D-1;MIRN320D1 APPROVED miscrna ENSG00000211491 35386 PROVISIONAL 1348331 MIR323A microRNA 323a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81548101 81548186 + 100561821 100561906 + 101492069 101492154 + 6480464 22562984;14691248;15634332;16381832;17604727;20889907;23302469 442897 ABBA01048514;AL132709;AMYH01006016;NR_029890 MIR323;MIRN323;hsa-mir-323;hsa-mir-323a APPROVED miscrna ENSG00000199069 31766 PROVISIONAL 1344856 MIR320A microRNA 320a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p21.3 21064808 21064889 - 22158419 22158500 - 22102475 22102556 - 6480464 20807887;20167074;14573789;15325244;16381832;17604727;17616659;20158877;20628061;22459450;23188675 407037 ABBA01005509;AC105206;AMYH01018565;NR_029714 MIRN320;MIRN320A;hsa-mir-320a APPROVED miscrna ENSG00000208037 31632 614112 PROVISIONAL 2974668 MIR320C2 microRNA 320c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 q11.2 18717951 18718000 + 21901650 21901699 + 16381832;18392026 100302195 ABBA01022617;AC023983;AMYH01008892;NG_029432;NR_031724 MIR320C-2;MIRN320C2;hsa-mir-320c-2 APPROVED miscrna ENSG00000212051 35387 VALIDATED 1348110 MIR328 microRNA 328 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 q22.1 51744456 51744530 - 67236224 67236298 - 6480464 20211135;14691248;15634332;16381832;17604727;21098446;21219875;21373837;21881276;22453125;21448905;22241070;22447870;22351693;23077581;22564856 442901 ABBA01025432;AC040160;AMYH01007745;NR_029887 MIRN328;hsa-mir-328 APPROVED miscrna ENSG00000207948 31770 613701 PROVISIONAL 1603790 MIR329-2 microRNA 329-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81549469 81549552 + 100563189 100563272 + 101493437 101493520 + 15891114;15965474;16274478;16381832;17604727 574409 ABBA01048514;AL132709;AMYH01006016;NR_029968 MIRN329-2 APPROVED miscrna ENSG00000207762 32051 PROVISIONAL 1350684 MIR325 microRNA 325 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.1 76505573 76505670 - 76142219 76142316 - 76225829 76225926 - 6480464 14691248;15634332;16381832;23047628;22438098;22710575 442899 ABBA01059274;AC240392;AL139192;AMYH01022625;NR_029905 MIRN325;hsa-mir-325 APPROVED miscrna ENSG00000207995 31768 PROVISIONAL 1343418 MIR324 microRNA 324 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 7151250 7151332 - 7067339 7067421 - 7126616 7126698 - 6480464 14691248;15634332;15800047;16381832;17604727;17616659 442898 ABBA01054854;AC120057;AMYH01008073;NR_029896 1648975;1778559 RH11576;SHGC-35547 MIRN324;hsa-mir-324 APPROVED miscrna ENSG00000199053 31767 PROVISIONAL 1348728 MIR326 microRNA 326 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.4 72352689 72352783 - 74723783 74723877 - 75046136 75046230 - 6480464 19838199;19883630;19955368;14691248;15634332;16381832;17604727;20667897;20889907;23302469;22069274;23142363;23292865;23341351 442900 ABBA01017469;AMYH01003814;AP000744;NG_028118;NR_029891 MIRN326;hsa-mir-326 APPROVED miscrna 31769 613755 VALIDATED 1603791 MIR329-1 microRNA 329-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81549154 81549233 + 100562874 100562953 + 101493122 101493201 + 15891114;15965474;16274478;16381832;17604727;20889907 574408 ABBA01048514;AL132709;AMYH01006016;AY882323;NR_029967 MIRN329-1 APPROVED miscrna ENSG00000207761 32050 PROVISIONAL 1351782 MIR330 microRNA 330 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 42948362 42948455 - 50834091 50834184 - 46142252 46142345 - 6480464 19597470;14691248;15634332;16381832;17604727;17616659;20889907 442902 ABBA01040937;AC098776;AMYH01009854;NR_029886 MIRN330;hsa-mir-330 APPROVED miscrna 31771 PROVISIONAL 1351844 MIR337 microRNA 337 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81394650 81394742 + 100410582 100410674 + 101340830 101340922 + 6480464 14691248;15634332;16381832;17604727;22723956 442905 ABBA01048517;AL117190;AMYH01006015;NR_029889 MIRN337;hsa-mir-337 APPROVED miscrna ENSG00000199151 31774 PROVISIONAL 1349158 MIR338 microRNA 338 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q25.3 75727856 75727922 - 76714277 76714343 - 79099683 79099749 - 6480464 18684991;14691248;15634332;16381832;17604727;17616659;20574809;22912826;22903028 442906 ABBA01032125;AC115099;AMYH01008706;NG_029981;NR_029897 MIRN338;hsa-mir-338 APPROVED miscrna 31775 614059 VALIDATED 1349160 MIR331 microRNA 331 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q22 95373089 95373182 + 94226326 94226419 + 95702196 95702289 + 6480464 19584056;14691248;15634332;16381832;17604727;17616659;20510161;20889907;21971048 442903 ABBA01053339;AC084879;AMYH01004667;NR_029895 MIRN331;hsa-mir-331 APPROVED miscrna ENSG00000199172 31772 PROVISIONAL 1603136 MIR33B microRNA 33b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p11.2 18656623 18656718 - 17657874 17657969 - 17717150 17717245 - 6480464 21576456;16381832;16505370;17604727;20466882;22887866;23547260 693120 ABBA01009745;AC122129;AMYH01008161;NG_029029;NR_030361 1745005;1745007;5016524;5117618 GDB:592791;GDB:592797;GDB:592800;GDB:592807 MIRN33B;hsa-mir-33b APPROVED miscrna 32791 613486 VALIDATED 1345058 MIR339 microRNA 339 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p22.3 1030508 1030601 - 1029094 1029187 - 1062569 1062662 - 6480464 19520829;14691248;15325244;15634332;16381832;17604727;20889907;20932331 442907 AACC02000129;ABBA01039316;AC073957;AMYH01016946;CH236965;NR_029898 1775742;2167318 SHGC-32510;STS-N27306 MIRN339;hsa-mir-339 APPROVED miscrna 31776 PROVISIONAL 1350498 MIR335 microRNA 335 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.2 124931728 124931821 + 129923187 129923280 + 130135952 130136045 + 6480464 14691248;15634332;16381832;17604727;17616659;21046227;21289068;21164520;21822301;21618216;21471143;22172575;22382496;22886530;23251334;22644918;22802949 442904 AACC02000033;ABBA01057587;AC007938;AMYH01017933;CH236950;NR_029899 MIRN335;hsa-mir-335;miRNA335 APPROVED miscrna 31773 611768 PROVISIONAL 1348329 MIR33A microRNA 33a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.2 26103182 26103250 + 40626893 40626961 + 42296948 42297016 + 6480464 21743487;11679670;20566875;20466882;16381832;17604727;20732877;21576456;23458685;22333591;22315319;22325218;23547260 407039 ABBA01055655;AJ421755;AMYH01012804;NR_029507;Z99716 MIR33;MIRN33;MIRN33A;hsa-mir-33;hsa-mir-33a;miR-33;miRNA33A APPROVED miscrna 31634 612156 PROVISIONAL 1352152 MIR346 microRNA 346 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q23.2 82019715 82019809 - 88014430 88014524 - 88024451 88024545 - 6480464 19342689;12554859;22838046;14691248;15634332;16381832;20889907;21611196;22002058 442911 ABBA01033659;AL732479;AMYH01002897;NR_029907 MIRN346;hsa-mir-346;miR-346;miRNA346 APPROVED miscrna 31780 611190 PROVISIONAL 1352110 MIR340 microRNA 340 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q35.3 175067491 175067585 - 179374908 179375002 - 179442303 179442397 - 6480464 14691248;15634332;16381832;17604727;21692045;22022480;22895557 442908 ABBA01010053;AC026413;AMYH01015961;NR_029885 MIRN340;hsa-mir-340 APPROVED miscrna 31777 PROVISIONAL 1343452 MIR34A microRNA 34a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 p36.22 9134313 9134422 - 9211727 9211836 - 6480464 19398721;19347736;19258450;19158830;19006648;18941118;18834855;18818704;18755897;18719384;18505919;18504438;18451145;18406353;17888029;17875987;17554199;17540599;17540598;17297439;19461653;19696787;20442590;19632201;19714243;20689156;12554860;12624257;16381832;17604727;17616659;20186752;18803879;19443717;19584398;19643983;19736307;19921694;20089965;20118199;20130213;20299489;20351093;20627091;20470934;22114136;22457788;22496226;22629428;20466628;20889907;22568628;22844109;21317930;21367750;21225432;21067862;21266077;21182263;21177782;21460242;21421997;20190569;21575235;22870278;21923954;22024162;21743299;21909380;22079638;21566225;22364258;22102825;23226240;21931765;22159222;22162084;21960059;21814748;22292433;22140441;22301190;22045851;22235332;22651868;22134354;21702042;21914401;22082000;22102859;22198213;22363487;22237142;22389628;21809390;22992310;22810507;22562822;23243217;23298640;23327670;22246523;23292869;22902550;22198089;22975373;23166734;23720881;23036084;23525797;22624980;22841474;22850877 407040 ABBA01035541;AJ550399;AL591166;AMYH01000237;AY194151;EF592573;EF609116;NR_029610 Hs.730325 MIRN34A;miRNA34A;mir-34 APPROVED miscrna ENSG00000207865 31635 611172 PROVISIONAL 1343414 MIR345 microRNA 345 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 80828823 80828920 + 99843948 99844045 + 100774196 100774293 + 6480464 15634332;15978578;16381832;17604727;14691248;21665895 442910 ABBA01048531;AL157871;AMYH01006010;NR_029906 MIRN345;hsa-mir-345 APPROVED miscrna ENSG00000198984 31779 PROVISIONAL 1348172 MIR342 microRNA 342 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 q32.2 99645744 99645842 + 100575992 100576090 + 6480464 19954774;14691248;15634332;16381832;17604727;17616659;18230126;20448109;21172025;21565830;22197249;22631664 442909 ABBA01048541;AL133523;AMYH01006003;NR_029888 MIRN342;hsa-mir-342 APPROVED miscrna 31778 PROVISIONAL 1352034 MIR34B microRNA 34b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q23.1 108536852 108536935 + 110888872 110888955 + 111383663 111383746 + 6480464 22082000;18519671;18451145;17554337;19461653;19632201;20889907;22439831;19536169;12919684;16381832;17604727;20309940;20924086;21610744;21960261;22844323;23632240;21537871;21976676;22703336;21949788;22593438;22047961;22052540;23314612;23504554;23147995;23155254 407041 ABBA01039819;AMYH01004030;AP002008;NR_029839 MIRN34B;miRNA34B APPROVED miscrna ENSG00000207811 31636 611374 PROVISIONAL 1348685 MIR34C microRNA 34c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q23.1 108537353 108537429 + 110889373 110889449 + 111384164 111384240 + 6480464 18451145;18519671;17554337;21946562;21976676;19461653;21351256;12919684;16381832;17604727;19536169;20198305;20212154;19632201;20309940;20924086;21600876;21610744;23298640;23504554;22844323;21976504;22074923;22082000;21321636;22047961;23423488;23155254 407042 ABBA01039819;AMYH01004030;AP002008;NR_029840 MIRN34C;miRNA34C APPROVED miscrna ENSG00000207562 31637 611375 PROVISIONAL 5134083 MIR3591 microRNA 3591 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 56118312 56118384 - 16381832;21199797 100616357 ABBA01056147;AC105105;AMYH01009026;NR_039899 APPROVED miscrna 41875 PROVISIONAL 4888864 MIR3607 microRNA 3607 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 85916314 85916392 + 16381832;20459774 100500805 ABBA01062114;AC108110;AMYH01015468;NR_037402 APPROVED miscrna 38900 PROVISIONAL 5134144 MIR3529 microRNA 3529 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 89155078 89155155 - 16381832;21199797 100616238 ABBA01053000;AC013489;AMYH01006909;NR_039867 APPROVED miscrna 41564 PROVISIONAL 5134172 MIR3545 microRNA 3545 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 104583755 104583840 - 16381832;21199797 100616173 ABBA01048391;AL136001;AMYH01006056;NR_039859 APPROVED miscrna 41811 PROVISIONAL 1346686 MIR361 microRNA 361 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 85398228 85398299 - 85045296 85045367 - 85158641 85158712 - 6480464 15538371;16381832;17604727;18230126;22675530;23128854;23166713 494323 ABBA01051728;AL022401;AMYH01022662;NR_029848 MIRN361;hsa-mir-361 APPROVED miscrna 31867 PROVISIONAL 4888791 MIR3611 microRNA 3611 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 35368526 35368608 - 16381832;20459774 100500890 ABBA01033347;AL392046;AMYH01002234;NR_037405 APPROVED miscrna ENSG00000266228 38914 PROVISIONAL 4888815 MIR3605 microRNA 3605 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 33797994 33798093 - 16381832;20224791;20459774 100500853 ABBA01023379;AL513327;AMYH01000480;NR_037400 APPROVED miscrna 38922 PROVISIONAL 4888828 MIR3606 microRNA 3606 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 189860356 189860418 + 16381832;20459774 100500837 ABBA01062370;AC066694;AMYH01011343;NR_037401 APPROVED miscrna 38881 PROVISIONAL 4888767 MIR3610 microRNA 3610 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 117886967 117887039 - 16381832;20459774 100500914 ABBA01037793;AC087350;AMYH01018983;NG_032862;NR_037404 APPROVED miscrna ENSG00000264875 38942 VALIDATED 4888847 MIR3609 microRNA 3609 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 q21.2-q22.1 98479273 98479352 + 16381832;20459774 100500819 AACC02000085;ABBA01045696;AC004991;AMYH01017719;CH236956;NG_030010;NR_037403 APPROVED miscrna 38956 VALIDATED 4888846 MIR3612 microRNA 3612 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 128778637 128778723 + 16381832;20459774 100500817 ABBA01060292;AC061709;AMYH01004869;NR_037406 APPROVED miscrna 38951 PROVISIONAL 4888760 MIR3613 microRNA 3613 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 50570551 50570637 - 16381832;20459774 100500908 ABBA01051033;AL391993;AMYH01005111;NR_037407 APPROVED miscrna ENSG00000264864 38964 PROVISIONAL 4888853 MIR3616 microRNA 3616 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 45795609 45795700 + 16381832;20459774 100500814 ABBA01052690;AL049540;AMYH01011946;NR_037410 APPROVED miscrna 38943 PROVISIONAL 4888838 MIR3619 microRNA 3619 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 46486924 46487006 + 16381832;20459774;21199797 100500828 ABBA01010438;AL121672;AMYH01012854;NR_037413 APPROVED miscrna ENSG00000266533 38998 PROVISIONAL 4888823 MIR3615 microRNA 3615 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 72744752 72744838 + 16381832;20459774 100500847 ABBA01028827;AC016888;AMYH01008626;NR_037409 APPROVED miscrna ENSG00000264624 38905 PROVISIONAL 4888807 MIR3618 microRNA 3618 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 20073269 20073356 + 16381832;20459774 100500860 ABBA01005395;AC006547;AMYH01012483;NR_037412 APPROVED miscrna ENSG00000266567 38937 PROVISIONAL 5134844 MIR3614 microRNA 3614 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 54968631 54968716 - 16381832;20459774;21199797 100500827 ABBA01041307;AC015912;AMYH01008498;NR_037408 APPROVED miscrna ENSG00000265238 38995 PROVISIONAL 4888814 MIR3622A microRNA 3622a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 27559194 27559276 + 16381832;20459774;21199797 100500858 AC013643;AMYH01018599;NR_037417 APPROVED miscrna 38934 PROVISIONAL 4888778 MIR3617 microRNA 3617 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 44333741 44333819 - 16381832;20459774 100500897 ABBA01052665;AL109656;AMYH01011938;NR_037411 APPROVED miscrna ENSG00000266071 38977 PROVISIONAL 4888857 MIR3620 microRNA 3620 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 228284964 228285042 + 16381832;20459774 100500810 ABBA01005830;AL136379;AMYH01001791;NR_037415 APPROVED miscrna 38917 PROVISIONAL 4888854 MIR3621 microRNA 3621 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 140063638 140063722 - 16381832;20459774 100500811 ABBA01022747;AL929554;AMYH01021893;NR_037416 APPROVED miscrna 38930 PROVISIONAL 4888798 MIR3622B microRNA 3622b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 27559190 27559284 - 16381832;20459774 100500871 AC013643;AMYH01018599;NR_037418 APPROVED miscrna ENSG00000265075 38961 PROVISIONAL 1604876 MIR362 microRNA 362 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53842799 53842863 + 49660311 49660375 + 49773572 49773636 + 6480464 15965474;16274478;16381832;17604727 574030 ABBA01063308;AC231645;AF222686;AMYH01022324;AY882270;NR_029850 MIRN362;hsa-mir-362 APPROVED miscrna 32022 PROVISIONAL 1604875 MIR363 microRNA 363 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690241 133690315 - 133131073 133131147 - 133303408 133303482 - 6480464 15965474;16274478;16381832;17604727;22446413;23438603 574031 ABBA01042404;AC002407;AMYH01022992;AY785932;NR_029852 MIR-363;MIRN363;hsa-mir-363 APPROVED miscrna ENSG00000207572 32023 PROVISIONAL 4888813 MIR3648 microRNA 3648 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 9825832 9826011 + 16381832;20483914 100500862 AMYH01012125;CR392039;NR_037421 APPROVED miscrna 38941 PROVISIONAL 4888859 MIR3647 microRNA 3647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq] 16381832;20483914 100500806 AC106804;NR_037420 miscrna 38903 PROVISIONAL 4888851 MIR3646 microRNA 3646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 43036760 43036843 + 16381832;20483914 100500813 ABBA01052642;AL132772;AMYH01011933;NR_037419 APPROVED miscrna 38935 PROVISIONAL 5490447 MIR31HG MIR31 host gene (non-protein coding) 9 p21.3 21454267 21559697 - 12477932;14702039;15364902;22289355;21048943 554202 Q8WTY6 ABBA01065176;AK124391;AL137022;AL353732;AMYH01019275;BC011715;BC021861;CA440917;CH471071;NR_027054 EAW58608;Q8WTY6 Hs.458096 1649972;1739833;1786906;1797728;2144415 D9S1751;IFNT1_2211;RH68380;SHGC-107227;SHGC-34366 miscrna 37187 VALIDATED 4888848 MIR3649 microRNA 3649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 1769481 1769546 - 16381832;20483914 100500816 ABBA01048821;AC005183;AMYH01004175;NR_037422 APPROVED miscrna ENSG00000266043 38948 PROVISIONAL 4888842 MIR3650 microRNA 3650 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 38557604 38557663 - 16381832;20483914 100500824 ABBA01024201;AC091823;AMYH01015040;NR_037423 APPROVED miscrna ENSG00000265304 38981 PROVISIONAL 4888762 MIR3651 microRNA 3651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 95054740 95054829 - 16381832;20483914 100500918 ABBA01018584;AL136097;AMYH01021508;NR_037424 APPROVED miscrna 38897 PROVISIONAL 4888835 MIR3653 microRNA 3653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 29729147 29729256 - 16381832;20483914 100500833 ABBA01055261;AC002059;AMYH01012695;NR_037426 APPROVED miscrna 38971 PROVISIONAL 5134845 MIR3654 microRNA 3654 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 132719620 132719675 - 16381832;20483914 100500804 H3BRB1 AACC02000027;ABBA01001100;AC008038;AMYH01017949;CH236950;NR_037427 APPROVED miscrna 38896 PROVISIONAL 4888841 MIR3658 microRNA 3658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 165877158 165877213 + 16381832;20483914 100500832 ABBA01047272;AL358115;AMYH01001472;NR_037431 APPROVED miscrna 38963 PROVISIONAL 4888862 MIR3659 microRNA 3659 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 38554903 38555001 + 16381832;20532037;21199797 100500801 ABBA01023247;AL139158;AMYH01000511;NR_037432 APPROVED miscrna ENSG00000265596 38882 PROVISIONAL 4888844 MIR3655 microRNA 3655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 140027429 140027511 + 16381832;20483914 100500820 ABBA01026423;AC116353;AMYH01015661;NR_037428 APPROVED miscrna 38960 PROVISIONAL 4888782 MIR3657 microRNA 3657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 112475403 112475519 - 16381832;20483914 100500889 ABBA01019917;AC073575;AMYH01004754;NR_037430 APPROVED miscrna 38906 PROVISIONAL 4888826 MIR3656 microRNA 3656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 118889654 118889722 + 16381832;20483914 100500840 ABBA01039681;AMYH01004080;AP003392;NR_037429 APPROVED miscrna 38889 PROVISIONAL 4888824 MIR3652 microRNA 3652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 104324203 104324333 + 16381832;20483914 100500842 ABBA01053210;AC078819;AMYH01004710;NR_037425 APPROVED miscrna 38894 PROVISIONAL 2290202 MIR365B microRNA 365b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 26822194 26822304 + 26926542 26926652 + 29902430 29902540 + 6480464 15735639;15965474;16381832;17604727;17616659;19144710;19883314 100126356 ABBA01014956;AC003101;AMYH01008325;NR_029856 MIR365-2;MIRN365-2;hsa-mir-365b APPROVED miscrna ENSG00000199187 33693 PROVISIONAL 4888840 MIR3660 microRNA 3660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 89312438 89312537 - 16381832;20532037;21199797 100500825 ABBA01062149;AC010599;AMYH01015476;NR_037433 APPROVED miscrna ENSG00000264342 38985 PROVISIONAL 4888766 MIR3661 microRNA 3661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 133561448 133561543 + 16381832;20532037;21199797 100500905 ABBA01068763;AC104109;AMYH01015623;NR_037434 APPROVED miscrna ENSG00000266751 38892 PROVISIONAL 4888777 MIR3663 microRNA 3663 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 118927189 118927285 - 16381832;20498841;20532037 100500893 ABBA01062948;AL731557;AMYH01003101;NR_037436 APPROVED miscrna ENSG00000266782 38958 PROVISIONAL 4888822 MIR3664 microRNA 3664 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 70718375 70718473 - 16381832;20532037;21199797 100500844 ABBA01010315;AMYH01003782;AP003783;NR_037437 APPROVED miscrna 38899 PROVISIONAL 4888809 MIR3665 microRNA 3665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 78272147 78272251 - 15735639;16381832;20559549 100500861 ABBA01021668;AL354831;AMYH01005224;NR_037438 APPROVED miscrna ENSG00000266325 38939 PROVISIONAL 2290203 MIR365A microRNA 365a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.12 14579263 14579349 + 14310642 14310728 + 14403142 14403228 + 22185756;15735639;15965474;16381832;17604727;17616659;19883314;21518763;21640710;22072615;23507558 100126355 ABBA01006884;AC040173;AMYH01007179;AY882279;NR_029854 MIR365-1;MIRN365-1;hsa-mir-365a APPROVED miscrna ENSG00000199130 33692 614735 PROVISIONAL 4888866 MIR3666 microRNA 3666 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 114293400 114293510 + 15735639;16381832;20559549 100500896 AACC02000001;ABBA01057827;AC020606;AMYH01017876;CH236947;NR_037439 APPROVED miscrna 38940 PROVISIONAL 4888788 MIR3662 microRNA 3662 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 135300476 135300570 - 16381832;20532037 100500880 ABBA01025846;AL445190;AMYH01016690;NR_037435 APPROVED miscrna 38983 PROVISIONAL 4888789 MIR3668 microRNA 3668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 140526389 140526463 + 16381832;20459673 100500879 ABBA01025778;AL022477;AL589904;AMYH01016712;NR_037441 APPROVED miscrna ENSG00000263514 38982 PROVISIONAL 4888790 MIR3667 microRNA 3667 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 49937041 49937114 - 16381832;20459673 100500882 AMYH01012883;NR_037440;Z97192 APPROVED miscrna ENSG00000264139 38990 PROVISIONAL 4888816 MIR3671 microRNA 3671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 65523438 65523525 - 16381832;20459673 100500854 ABBA01074551;AL357078;AMYH01000682;NR_037443 APPROVED miscrna ENSG00000265996 38925 PROVISIONAL 5134846 MIR3670-1 microRNA 3670-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 p13.11 15001574 15001638 + 16381832;20459673 100500910 AC138932;AMYH01007182;NR_037442 MIR3670;hsa-mir-3670-1 APPROVED miscrna ENSG00000263918 38997 PROVISIONAL 6483881 MIR3670-2 microRNA 3670-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 p13.11 16400227 16400291 + 16381832;20459673 100846994 AC138969;NR_049832 miscrna ENSG00000264722 43460 PROVISIONAL 1343543 MIR367 microRNA 367 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q25 110863123 110863190 - 113788478 113788545 - 113569030 113569097 - 15183728;16274478;20889907;16381832;17604727;21810988;21720384;23393343;23185040 442912 ABBA01063816;AC106864;AMYH01014469;NG_032779;NR_029860 MIRN367;hsa-mir-367 APPROVED miscrna ENSG00000199169 31781 614600 VALIDATED 4888794 MIR3675 microRNA 3675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 17185444 17185516 - 16381832;20459673 100500876 ABBA01008116;AMYH01000293;BX284668;NR_037446 APPROVED miscrna ENSG00000263811 38973 PROVISIONAL 4888865 MIR3676 microRNA 3676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 8090493 8090577 + 16381832;20459673 100500892 ABBA01054901;AC129492;AMYH01008088;NR_037447 APPROVED miscrna ENSG00000266638 38927 PROVISIONAL 4888852 MIR3677 microRNA 3677 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2320714 2320773 + 16381832;20459673;21199797 100500812 ABBA01030267;AC009065;AMYH01007057;NR_037448 APPROVED miscrna ENSG00000266643 38932 PROVISIONAL 4888829 MIR3678 microRNA 3678 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 73402150 73402243 + 16381832;20459673 100500841 ABBA01028798;AC011933;AMYH01008634;NR_037449 APPROVED miscrna ENSG00000264511 38891 PROVISIONAL 5686447 MIR3680-1 microRNA 3680-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 21517370 21517456 - 16381832;20459673 100500917 AC005632;AMYH01007355;NR_037451 MIR3680;hsa-mir-3680-1 miscrna ENSG00000265462 38989 PROVISIONAL 4888756 MIR3674 microRNA 3674 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 1749291 1749358 + 16381832;20459673 100500912 ABBA01016745;AC100810;AMYH01018279;NR_037445 APPROVED miscrna 38915 PROVISIONAL 6483903 MIR3680-2 microRNA 3680-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 29610500 29610586 - 16381832;20459673 100847041 AC009086;AMYH01007494;NR_049833 miscrna ENSG00000266758 43472 PROVISIONAL 4888787 MIR3681 microRNA 3681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 12339256 12339327 + 16381832;20459673 100500884 ABBA01015660;AC019090;AMYH01010118;NR_037452 APPROVED miscrna ENSG00000264089 38994 PROVISIONAL 4888799 MIR3672 microRNA 3672 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 120504826 120504907 + 16381832;20459673 100500869 ABBA01036116;AC007486;AMYH01022926;NR_037444 APPROVED miscrna ENSG00000265456 38957 PROVISIONAL 4888792 MIR3679 microRNA 3679 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 134884696 134884763 + 16381832;20224791;20459673;21199797 100500878 ABBA01028195;AC115625;AMYH01011113;NR_037450 APPROVED miscrna ENSG00000263813 38979 PROVISIONAL 4888784 MIR3683 microRNA 3683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7106595 7106676 - 16381832;20459673 100500886 AACC02000012;ABBA01056513;AC092104;AMYH01017056;CH236948;NR_037454 APPROVED miscrna ENSG00000266287 38999 PROVISIONAL 4888800 MIR3684 microRNA 3684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 99918538 99918611 + 16381832;20459673 100500867 ABBA01063668;AC019131;AMYH01014419;NR_037455 APPROVED miscrna 38950 PROVISIONAL 4888818 MIR3682 microRNA 3682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 54076259 54076342 - 16381832;20459673;21199797 100500850 ABBA01075240;AC008068;AMYH01010356;NR_037453 APPROVED miscrna 38916 PROVISIONAL 4888861 MIR3685 microRNA 3685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 95703699 95703760 + 16381832;20459673 100500802 ABBA01053339;AC084879;AMYH01004667;NR_037456 APPROVED miscrna ENSG00000265917 38886 PROVISIONAL 4888863 MIR3687 microRNA 3687 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 9826203 9826263 + 16381832;20459673 100500815 AMYH01012125;CR392039;NR_037458 APPROVED miscrna ENSG00000264063 38946 PROVISIONAL 4888834 MIR3686 microRNA 3686 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 130496303 130496388 - 16381832;20459673 100500839 ABBA01037969;AC011257;AMYH01019021;NR_037457 APPROVED miscrna ENSG00000263763 38887 PROVISIONAL 4888786 MIR3688-1 microRNA 3688-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 160049954 160050046 - 16381832;20459673;21199797 100500881 ABBA01070217;AC095064;AMYH01014647;NR_037459 MIR3688 APPROVED miscrna ENSG00000264105 38986 PROVISIONAL 4888763 MIR3689B microRNA 3689b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137741971 137742118 - 16381832;20224791 100500906 AL603650;AMYH01021828;NR_037469 APPROVED miscrna ENSG00000264163 38924 PROVISIONAL 5134109 MIR3688-2 microRNA 3688-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 160049957 160050043 + 16381832;21199797 100616303 ABBA01070217;AC095064;AMYH01014647;NR_039963 APPROVED miscrna 41735 PROVISIONAL 1348667 MIR369 microRNA 369 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81587997 81588066 + 100601687 100601756 + 101531935 101532004 + 6480464 18048652;15183728;15891114;16274478;16381832;17604727;20810544;21660946;21709374 442914 ABBA01048514;AL132709;AMYH01006017;NR_029862 MIR369-3;MIRN369;MIRN369-3;hsa-mir-369 APPROVED miscrna 31783 611794 PROVISIONAL 4888820 MIR3689A microRNA 3689a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137741333 137741410 - 16381832;20224791;20459673 100500846 AL603650;AMYH01021828;NR_037460 APPROVED miscrna ENSG00000265872 38904 PROVISIONAL 5133928 MIR3689C microRNA 3689c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137741144 137741215 - 16381832;20733160 100616333 ABBA01030015;AL603650;AMYH01021828;NR_039691 APPROVED miscrna ENSG00000264744 41816 PROVISIONAL 5133893 MIR3689E microRNA 3689e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137742416 137742487 - 16381832;20733160 100616460 ABBA01030015;AL603650;AMYH01021828;NR_039695 APPROVED miscrna ENSG00000266827 41887 PROVISIONAL 4888773 MIR3692 microRNA 3692 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 157950164 157950232 + 16381832;20459673 100500899 ABBA01021116;AL450328;AMYH01016777;NR_037463 APPROVED miscrna 38885 PROVISIONAL 4888770 MIR3691 microRNA 3691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 5148467 5148556 - 16381832;20459673;21199797 100500900 ABBA01022006;AL035653;AMYH01016049;NR_037462 APPROVED miscrna 38909 PROVISIONAL 5134013 MIR3689D1 microRNA 3689d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137741455 137741528 - 16381832;20733160 100616131 AL603650;AMYH01021828;NR_039693 APPROVED miscrna ENSG00000265848 41621 PROVISIONAL 5133924 MIR3689D2 microRNA 3689d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137742123 137742202 - 16381832;20733160 100616344 AL603650;AMYH01021828;NR_039694 APPROVED miscrna ENSG00000264136 41846 PROVISIONAL 5133974 MIR3689F microRNA 3689f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137742588 137742653 - 16381832;20733160 100616212 ABBA01030015;AL603650;AMYH01021828;NR_039696 APPROVED miscrna ENSG00000266514 41702 PROVISIONAL 4888774 MIR3690 microRNA 3690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X;Y p22.32 and Yp11.3 1412811 1412885 + 16381832;20459673 100500894 ABBA01055740;AMYH01021990;BX649553;NR_037461 APPROVED miscrna 38967 PROVISIONAL 4888812 MIR3713 microRNA 3713 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 76878988 76879032 + 16381832;20466808 100500855 ABBA01060553;AC015798;AMYH01006821;NR_037464 APPROVED miscrna ENSG00000266449 38926 PROVISIONAL 4888757 MIR3714 microRNA 3714 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 16974688 16974752 + 16381832;20466808 100500913 ABBA01025127;AC090943;AMYH01013003;NR_037465 APPROVED miscrna ENSG00000264818 38928 PROVISIONAL 1343857 MIR370 microRNA 370 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81431308 81431382 + 100447228 100447302 + 101377476 101377550 + 6480464 17621267;20167074;15183728;16274478;16381832;17604727;22587332;23029264;23077663;21666718;23110045;22900969 442915 ABBA01048514;AL117190;AMYH01006016;NR_029863 MIRN370;hsa-mir-370 APPROVED miscrna ENSG00000199005 31784 612553 PROVISIONAL 5134168 MIR371B microRNA 371b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 54290931 54290996 - 16381832;21199797 100616185 ABBA01068200;AC008753;AMYH01009965;NR_039909 APPROVED miscrna 41863 PROVISIONAL 1353102 MIR374A microRNA 374a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q13.2 73790587 73790658 - 73423845 73423916 - 73507121 73507192 - 6480464 15183728;16274478;16381832;17604727;17616659;21748820 442919 ABBA01059585;AC004386;AMYH01022613;NR_030785 MIRN374;MIRN374A;hsa-mir-374 APPROVED miscrna ENSG00000199168 31788 PROVISIONAL 1350507 MIR373 microRNA 373 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51333038 51333106 + 58983770 58983838 + 54291959 54292027 + 6480464 21481188;19138993;18227514;17695719;23238818;15183728;16381832;17604727;20732906;19501585;19851984;21165562;22848681;21086164;21608007;21706058;22876037;23461063;22158050 442918 ABBA01068200;AC008753;AMYH01009965;NR_029866 MIRN373;hsa-mir-373;miRNA373 APPROVED miscrna ENSG00000199143 31787 611954 PROVISIONAL 1350950 MIR372 microRNA 372 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51332225 51332291 + 58982955 58983021 + 54291144 54291210 + 6480464 17695719;15183728;16381832;17604727;20889907;21646351;21490602;21608007;22451061;22456107;23291979;23298385;22848681 442917 ABBA01068200;AC008753;AMYH01009965;NR_029865 MIRN372;hsa-mir-372 APPROVED miscrna ENSG00000199095 31786 612044 PROVISIONAL 1346361 MIR371A microRNA 371a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51332010 51332076 + 58982740 58982806 + 54290929 54290995 + 6480464 17695719;15183728;16381832;17604727;20209130;22848681;21660946;23466643;21624813 442916 ABBA01068200;AC008753;AMYH01009965;NR_029864 MIR371;MIRN371;hsa-mir-371;hsa-mir-371a APPROVED miscrna ENSG00000199031 31785 612043 PROVISIONAL 2290238 MIR374B microRNA 374b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q13.2 73721851 73721922 - 73355106 73355177 - 73438382 73438453 - 6480464 16381832;16954537;17604727;17616659 100126317 ABBA01059591;AC004386;AMYH01022613;NR_030620 2151527 RH68565 MIRN374B APPROVED miscrna ENSG00000212027 33665 PROVISIONAL 1348680 MIR376A1 microRNA 376a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81563176 81563243 + 100576871 100576938 + 101507119 101507186 + 15891114;16274478;16381832;17322061;17604727;22747855;23373993;21556037 494325 ABBA01048514;AL132709;AMYH01006017;AY785912;NR_029868 MIR376A-1;MIRN376A;MIRN376A-1;MIRN376A1 microrna 376a APPROVED miscrna 31869 610959 PROVISIONAL 4888858 MIR374C microRNA 374c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 73438384 73438453 + 16381832;20459774 100500807 ABBA01059591;AC004386;AMYH01022613;NR_037511 APPROVED miscrna 38907 PROVISIONAL 1606045 MIR376A2 microRNA 376a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562463 81562542 + 100576158 100576237 + 101506406 101506485 + 15891114;16381832;17322061;17604727 664615 ABBA01048514;AL132709;AMYH01006017;NR_030266 MIR376A-2;MIRN376A-2;MIRN376A2 APPROVED miscrna 32532 610960 PROVISIONAL 1603783 MIR376B microRNA 376b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562830 81562929 + 100576525 100576624 + 101506773 101506872 + 6480464 15891114;16381832;17322061;17604727;22456620 574435 ABBA01048514;AL132709;AMYH01006017;NR_030157 MIRN376B APPROVED miscrna 32066 610961 PROVISIONAL 4109041 MIR378C microRNA 378c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 126432544 126432624 - 132760851 132760931 - 16381832;19784364 100422867 ABBA01012977;AL607076;AMYH01003189;NR_036180 APPROVED miscrna ENSG00000264803 38374 PROVISIONAL 1346759 MIR376C microRNA 376c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562084 81562149 + 100575779 100575844 + 101506027 101506092 + 6480464 15183728;15891114;16381832;17322061;17604727;21224400;22747855;22927033 442913 ABBA01048514;AL132709;AMYH01006017;NR_029861 MIR368;MIRN368;MIRN376C;hsa-mir-368;miRNA368 APPROVED miscrna 31782 610983 PROVISIONAL 4108977 MIR378B microRNA 378b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 10307718 10307774 + 10371913 10371969 + 16381832;20300190 100422933 ABBA01020379;AC022384;AMYH01012969;NR_036084 1666180;2140731;2144337;2157536 D3S3903;D3S3990;G10673;SHGC-76702 APPROVED miscrna ENSG00000264534 38283 PROVISIONAL 1342565 MIR377 microRNA 377 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81584448 81584516 + 100598139 100598207 + 101528387 101528455 + 6480464 18716028;15891114;16274478;16381832;17604727;21106538 494326 ABBA01048514;AL132709;AMYH01006017;AY882333;NR_029869 MIRN377;hsa-mir-377 APPROVED miscrna 31870 PROVISIONAL 1345940 MIR378A microRNA 378a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q32 145193831 145193896 + 149092580 149092645 + 149112388 149112453 + 6480464 22454525;22440013;18077375;19844573;15325244;15538371;16381832;17604727;20889907;20889127;23135265;21242960;22649192;22052152;23333942;23582927 494327 ABBA01026297;AC022100;AMYH01015703;NR_029870 MIR378;MIRN378;hsa-mir-378;hsa-mir-378a;miRNA378 APPROVED miscrna 31871 611957 PROVISIONAL 1345165 MIR375 microRNA 375 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q35 213636080 213636143 - 219574610 219574673 - 219866367 219866430 - 6480464 22377847;22056881;15538371;20226166;22302717;20548334;16381832;17604727;20467341;20978187;22752059;21673684;21723283;22031094;21593139;21343377;21856745;21953071;21533613;21753766;22508479;23259291;22172490;21813472;22987659;23103713;23206448;23581226;22519435 494324 ABBA01023853;AC097468;AMYH01011501;NR_029867 MIRN375;hsa-mir-375;miRNA375 APPROVED miscrna ENSG00000198973 31868 611173 PROVISIONAL 5133854 MIR378D2 microRNA 378d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 94928250 94928347 - 16381832;16954537;20733160 100616169 ABBA01037444;AC084346;AMYH01018883;NR_039602 APPROVED miscrna ENSG00000264448 41797 PROVISIONAL 5133984 MIR378D1 microRNA 378d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 5925002 5925055 - 16381832;20733160 100616201 ABBA01008268;AC092442;AMYH01013910;NR_039608 APPROVED miscrna ENSG00000263631 41550 PROVISIONAL 5133934 MIR378G microRNA 378g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 95211416 95211456 - 16381832;20733160 100616321 ABBA01045504;AC093429;AMYH01000810;NR_039620 APPROVED miscrna ENSG00000263526 41785 PROVISIONAL 5133875 MIR378E microRNA 378e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 169455492 169455570 + 16381832;20733160 100616498 ABBA01044102;AC026695;AMYH01015802;NR_039609 APPROVED miscrna 41671 PROVISIONAL 5133940 MIR378H microRNA 378h microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 154209018 154209100 + 16381832;20733160 100616306 ABBA01026222;AC112169;AMYH01015730;NR_039667 APPROVED miscrna ENSG00000263361 41744 PROVISIONAL 5133879 MIR378F microRNA 378f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 24255560 24255637 + 16381832;20733160 100616492 ABBA01059893;AL590609;AMYH01000367;NR_039615 APPROVED miscrna ENSG00000264926 41686 PROVISIONAL 1350207 MIR381HG MIR381 host gene (non-protein coding) q32.31 378881 AA861571;AL132709 Hs.451159 C14orf89;NCRNA00225 APPROVED miscrna 20136 5133956 MIR378I microRNA 378i microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 42319226 42319301 - 16381832;20733160 100616259 ABBA01055656;AMYH01012806;NR_039760;Z99716 APPROVED miscrna ENSG00000263463 41620 PROVISIONAL 1350037 MIR380 microRNA 380 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81547386 81547446 + 100561106 100561166 + 101491354 101491414 + 6480464 20871609;15310658;15538371;16381832;17604727 494329 ABBA01048514;AL132709;AMYH01006016;NR_029872 MIR380-3p;MIRN380;hsa-mir-380 APPROVED miscrna 31873 613654 PROVISIONAL 1346769 MIR381 microRNA 381 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81568314 81568388 + 100582009 100582083 + 101512257 101512331 + 6480464 22592211;20167074;16274478;16381832;17604727;20889907;21435336 494330 ABBA01048514;AL132709;AMYH01006017;AY785922;NR_029873 MIRN381;hsa-mir-381 APPROVED miscrna ENSG00000199020 31874 PROVISIONAL 1350916 MIR379 microRNA 379 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81544435 81544501 + 100558155 100558221 + 101488403 101488469 + 6480464 15538371;15891114;16274478;16381832;17604727 494328 ABBA01048514;AL132709;AMYH01006016;AY882324;NR_029871 MIRN379;hsa-mir-379 APPROVED miscrna 31872 PROVISIONAL 1343561 MIR382 microRNA 382 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81576704 81576779 + 100590395 100590470 + 101520643 101520718 + 6480464 15891114;16274478;16381832;17604727;20716515 494331 ABBA01048514;AL132709;AMYH01006017;NR_029874 MIRN382;hsa-mir-382 APPROVED miscrna 31875 PROVISIONAL 4888831 MIR3907 microRNA 3907 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 151130575 151130725 - 16381832;20224791 100500835 AACC02000108;ABBA01035154;AC005996;AMYH01018145;NR_037468 APPROVED miscrna 38988 PROVISIONAL 4888839 MIR3909 microRNA 3909 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 35731633 35731751 + 16381832;20224791;20498841 100500826 ABBA01055413;AL008635;AMYH01012740;NR_037471 APPROVED miscrna 38987 PROVISIONAL 4888761 MIR3908 microRNA 3908 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 124020956 124021081 + 16381832;20224791 100500909 ABBA01060400;AC055713;AMYH01004841;NR_037470 APPROVED miscrna ENSG00000266655 38991 PROVISIONAL 4888843 MIR3910-1 microRNA 3910-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 94398533 94398643 + 16381832;20224791 100500821 AL159999;AMYH01021505;NR_037472 APPROVED miscrna ENSG00000266855 38966 PROVISIONAL 4888768 MIR3910-2 microRNA 3910-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 94398546 94398627 - 16381832;20224791 100500902 AL159999;AMYH01021505;NR_037489 APPROVED miscrna 38952 PROVISIONAL 4888837 MIR3912 microRNA 3912 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 170813660 170813764 - 16381832;20224791 100500831 ABBA01044080;AC091980;AMYH01015806;NR_037474 APPROVED miscrna ENSG00000264249 38923 PROVISIONAL 4888796 MIR3911 microRNA 3911 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 130452966 130453074 - 16381832;20224791;21199797 100500872 ABBA01043840;AL162426;AMYH01021732;NR_037473 APPROVED miscrna ENSG00000264329 38962 PROVISIONAL 1348316 MIR383 microRNA 383 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p22 13675794 13675866 - 14755317 14755389 - 14710947 14711019 - 6480464 15538371;16381832;17604727;21368870;21785829;23157748 494332 ABBA01021609;AC084838;AMYH01018534;NR_029875 MIRN383;hsa-mir-383 APPROVED miscrna 31876 PROVISIONAL 4888765 MIR3913-1 microRNA 3913-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 69978502 69978603 - 16381832;20224791;21199797 100500903 AC018921;AMYH01004567;NR_037475 APPROVED miscrna ENSG00000264405 38884 PROVISIONAL 4888805 MIR3913-2 microRNA 3913-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 69978503 69978602 + 16381832;20224791 100500868 AC018921;AMYH01004567;NR_037476 APPROVED miscrna 38953 PROVISIONAL 1344923 MIR384 microRNA 384 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q21.1 76419440 76419527 - 76056091 76056178 - 76139698 76139785 - 6480464 15538371;16381832 494333 ABBA01059287;AC233277;AMYH01022625;NR_029909;Z84470 MIRN384;hsa-mir-384 APPROVED miscrna 31878 PROVISIONAL 4888833 MIR3914-1 microRNA 3914-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 70772658 70772756 - 16381832;20224791;21199797 100500836 AACC02000046;ABBA01064021;AC079398;AMYH01017523;CH236952;NR_037477 APPROVED miscrna ENSG00000265878 38993 PROVISIONAL 4888771 MIR3914-2 microRNA 3914-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 70772660 70772754 + 16381832;20224791;21199797 100500920 AACC02000046;ABBA01064021;AC079398;AMYH01017523;CH236952;NR_037479 APPROVED miscrna 38975 PROVISIONAL 4888755 MIR3915 microRNA 3915 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 32601773 32601869 - 16381832;20224791 100500915 ABBA01073181;AC004468;AMYH01022201;NR_037478 APPROVED miscrna 38955 PROVISIONAL 4888856 MIR3917 microRNA 3917 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 26232853 26232945 - 16381832;20224791 100500808 ABBA01034887;AL033528;AMYH01000394;NR_037481 APPROVED miscrna ENSG00000264021 38911 PROVISIONAL 4888819 MIR3916 microRNA 3916 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 247365269 247365362 - 16381832;20224791 100500849 ABBA01031782;AL390728;AMYH01001910;NR_037480 APPROVED miscrna ENSG00000263568 38912 PROVISIONAL 4888817 MIR3918 microRNA 3918 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 159185693 159185785 - 16381832;20224791 100500851 ABBA01021080;AL589931;AMYH01016793;NG_029794;NR_037482 APPROVED miscrna ENSG00000265558 38919 VALIDATED 4888825 MIR3922 microRNA 3922 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 104985411 104985494 + 16381832;20224791;21199797 100500843 AC010191;AMYH01004718;NG_029810;NR_037487 APPROVED miscrna 38895 VALIDATED 4888832 MIR3924 microRNA 3924 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 59064239 59064319 - 16381832;20224791 100500834 ABBA01019427;AC022541;AMYH01002764;NR_037490 APPROVED miscrna ENSG00000264747 38984 PROVISIONAL 4888783 MIR3925 microRNA 3925 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 36590213 36590289 - 16381832;20224791;21199797 100500885 ABBA01038264;AMYH01016275;NR_037491;Z85986 APPROVED miscrna ENSG00000263894 38996 PROVISIONAL 4888802 MIR3923 microRNA 3923 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 79557037 79557119 + 16381832;20224791 100500877 ABBA01031031;AC117479;AMYH01013302;NR_037488 APPROVED miscrna ENSG00000265193 38978 PROVISIONAL 4888850 MIR3920 microRNA 3920 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 101390551 101390636 - 16381832;20224791 100500823 AMYH01003987;AP003080;NR_037485 APPROVED miscrna 38974 PROVISIONAL 4888808 MIR3921 microRNA 3921 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 99683158 99683242 - 16381832;20224791 100500859 AC117419;AMYH01013357;NR_037486 APPROVED miscrna ENSG00000264897 38936 PROVISIONAL 4888860 MIR3919 microRNA 3919 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 159000435 159000523 + 16381832;20224791 100500803 ABBA01058805;AC107312;AMYH01013610;NR_037483 APPROVED miscrna 38890 PROVISIONAL 4888797 MIR3926-1 microRNA 3926-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 12584741 12584813 - 16381832;20224791 100500870 AC123777;AMYH01018526;NR_037492 APPROVED miscrna 38959 PROVISIONAL 4888769 MIR3928 microRNA 3928 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 31556048 31556105 - 16381832;20224791;22922797 100500901 ABBA01055322;AC005005;AMYH01012713;NR_037496 APPROVED miscrna ENSG00000264141 38933 PROVISIONAL 4888776 MIR3935 microRNA 3935 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 56279432 56279535 + 16381832;20498841 100500891 ABBA01025240;AC079411;AMYH01007689;NR_037499 APPROVED miscrna 38918 PROVISIONAL 4888795 MIR3934 microRNA 3934 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 33665905 33666011 + 16381832;20498841 100500873 ABBA01038161;AL139044;AMYH01016249;NR_037498 APPROVED miscrna ENSG00000266509 38965 PROVISIONAL 4888803 MIR3929 microRNA 3929 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 33514051 33514105 - 16381832;20224791 100500864 ABBA01022438;AC118757;AMYH01008938;NR_037497 APPROVED miscrna ENSG00000265641 38945 PROVISIONAL 4888779 MIR3927 microRNA 3927 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 112273755 112273825 - 16381832;20224791 100500898 ABBA01042761;AL162733;AMYH01021622;NR_037493 APPROVED miscrna ENSG00000263861 38901 PROVISIONAL 4888830 MIR3926-2 microRNA 3926-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 12584746 12584808 + 16381832;20224791;21199797 100500838 AC123777;AMYH01018526;NR_037495 APPROVED miscrna 38883 PROVISIONAL 4888806 MIR3936 microRNA 3936 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 131701182 131701291 - 21606961;16381832;20498841;21199797 100500865 ABBA01068808;AC008599;AMYH01015615;NR_037500 APPROVED miscrna ENSG00000263597 38947 PROVISIONAL 4888845 MIR3937 microRNA 3937 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 39520470 39520575 + 16381832;20498841 100500822 ABBA01046918;AF241734;AMYH01022217;NR_037501 APPROVED miscrna ENSG00000263730 38970 PROVISIONAL 4888793 MIR3938 microRNA 3938 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 55886520 55886622 - 16381832;20498841 100500875 ABBA01024452;AC116991;AMYH01013204;NR_037502 APPROVED miscrna 38972 PROVISIONAL 4888810 MIR3939 microRNA 3939 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 167411295 167411400 - 16381832;20498841 100500857 ABBA01033435;AMYH01016853;NR_037504;Z94721 APPROVED miscrna ENSG00000265828 38931 PROVISIONAL 4888801 MIR3941 microRNA 3941 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 124176481 124176583 + 16381832;20498841 100500866 ABBA01062846;AMYH01003135;BX842242;NR_037506 APPROVED miscrna 38949 PROVISIONAL 4888849 MIR3945 microRNA 3945 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 185772167 185772264 - 16381832;20498841 100500818 AC084871;AMYH01014770;NR_037510 APPROVED miscrna ENSG00000266698 38954 PROVISIONAL 4888758 MIR3944 microRNA 3944 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 135185060 135185167 - 16381832;20498841;21199797 100500911 ABBA01006214;AL360181;AMYH01003237;NR_037509 APPROVED miscrna 38898 PROVISIONAL 5134843 MIR3960 microRNA 3960 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 130548112 130548202 + 16381832;21324897 100616250 ABBA01043844;AL162586;NG_029812;NR_039767 APPROVED miscrna ENSG00000266070 41595 VALIDATED 4888836 MIR3943 microRNA 3943 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 43190494 43190593 + 16381832;20498841 100500829 AACC02000040;ABBA01058179;AC004455;AMYH01017204;CH236951;NR_037508 APPROVED miscrna ENSG00000264069 38888 PROVISIONAL 5133860 MIR3972 microRNA 3972 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 17604384 17604470 + 16381832;20876853 100616188 ABBA01000267;AL590644;AMYH01000295;NR_039768 APPROVED miscrna 41876 PROVISIONAL 4888764 MIR3942 microRNA 3942 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 35664457 35664565 - 21606961;16381832;20498841;21199797 100500904 ABBA01038505;AC019288;AMYH01006542;NR_037507 APPROVED miscrna 38976 PROVISIONAL 4888780 MIR3940 microRNA 3940 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 6416421 6416522 - 16381832;20498841;21199797;23228962 100500888 ABBA01055959;AC011491;AMYH01009372;NR_037505 APPROVED miscrna 38893 PROVISIONAL 5133862 MIR3976 microRNA 3976 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 5840694 5840832 + 16381832;20876853 100616244 ABBA01049884;AMYH01008787;AP005433;NR_039772 APPROVED miscrna 41578 PROVISIONAL 5133857 MIR3975 microRNA 3975 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 33171701 33171770 + 16381832;20876853 100616257 ABBA01022444;AC090220;AMYH01008938;NR_039771 APPROVED miscrna 41613 PROVISIONAL 5133852 MIR3977 microRNA 3977 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 82135974 82136043 + 16381832;20876853 100616297 ABBA01062077;AC108174;AMYH01015451;NR_039773 APPROVED miscrna 41721 PROVISIONAL 5133855 MIR3974 microRNA 3974 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 17826233 17826328 + 16381832;20876853 100616279 ABBA01067918;AC087321;AMYH01004307;NR_039770 APPROVED miscrna 41672 PROVISIONAL 5133853 MIR3978 microRNA 3978 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 109325346 109325446 + 16381832;20876853 100616491 ABBA01043435;AL360224;AMYH01022840;NR_039774 APPROVED miscrna 41630 PROVISIONAL 1603786 MIR409 microRNA 409 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81587699 81587777 + 100601389 100601467 + 101531637 101531715 + 6480464 15891114;15965474;16274478;16381832;17604727;22179828;22927033;23360331;22388101;22531314 574413 ABBA01048514;AL132709;AMYH01006017;NR_029975 MIRN409;hsa-mir-409 APPROVED miscrna ENSG00000199107 32055 614057 PROVISIONAL 1603135 MIR411 microRNA 411 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81545694 81545789 + 100559414 100559509 + 101489662 101489757 + 6480464 16381832;16505370;17604727;23561550 693121 ABBA01048514;AL132709;AMYH01006016;NR_030389 MIRN411;hsa-mir-411 APPROVED miscrna ENSG00000199109 32792 PROVISIONAL 1603785 MIR412 microRNA 412 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81587846 81587936 + 100601536 100601626 + 101531784 101531874 + 6480464 15891114;16381832 574433 ABBA01048514;AL132709;AMYH01006017;NR_030155 MIRN412;hsa-mir-412 APPROVED miscrna ENSG00000199012 32064 PROVISIONAL 1603134 MIR421 microRNA 421 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q13.2 73721681 73721765 - 73354936 73355020 - 73438212 73438296 - 6480464 22446874;21352803;19802518;20080624;16381832;16505370;17604727;22952991;22926798;22146319 693122 ABBA01059591;AC004386;AMYH01022613;NR_030398 2151527 RH68565 MIRN421;hsa-mir-421 APPROVED miscrna ENSG00000202566 32793 PROVISIONAL 5133850 MIR3973 microRNA 3973 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 36031648 36031754 + 16381832;20876853 100616311 ABBA01060852;AC026269;AMYH01003490;NR_039769 APPROVED miscrna 41756 PROVISIONAL 1603784 MIR410 microRNA 410 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81588311 81588390 + 100602001 100602080 + 101532249 101532328 + 6480464 15891114;15965474;15978578;16274478;16381832;17604727;22750473;21970883;23246289 574434 ABBA01048514;AL132709;AMYH01006017;AY882266;NR_030156 MIRN410;hsa-mir-410 microrna APPROVED miscrna ENSG00000199092 32065 615036 PROVISIONAL 1352178 MIR422A microRNA 422a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q22.31 41042525 41042614 - 61950181 61950270 - 64163129 64163218 - 15325244;16381832;17604727;20351063 494334 ABBA01038904;AC015914;AMYH01006705;NR_029944 MIRN422A APPROVED miscrna ENSG00000199156 31879 PROVISIONAL 4108945 MIR4251 microRNA 4251 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 2242917 2242977 + 3044539 3044599 + 16381832;19784364 100422968 ABBA01073664;AL008733;AMYH01000187;NG_029576;NR_036215 APPROVED miscrna 38370 VALIDATED 1350017 MIR423 microRNA 423 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 25305698 25305791 + 25468222 25468315 + 28444097 28444190 + 6480464 19138993;20585341;19851984;19950226;20185794;15325244;16381832;17604727;17616659;18230126;20158877;20732906;21890460;22593246 494335 ABBA01015005;AC104984;AMYH01008298;AY882274;NR_029945 MIRN423;hsa-mir-423 APPROVED miscrna 31880 PROVISIONAL 1353446 MIR424 microRNA 424 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134067462 134067559 - 133508309 133508406 - 133680644 133680741 - 6480464 17889671;15325244;19692702;16381832;17604727;17616659;20462953;22681934;20972335;21179471;21902894;21885851;23263626;22469983 494336 ABBA01042455;AC004383;AMYH01022993;NR_029946 1654449 RH18517 MIR322;MIRN424;hsa-mir-424;miRNA424 APPROVED miscrna ENSG00000199097 31881 300682 PROVISIONAL 1352547 MIR425 microRNA 425 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 49014304 49014390 - 49032584 49032670 - 49057581 49057667 - 6480464 15538371;15891114;16381832;17604727;17616659;21118967;23505378 494337 ABBA01024618;AC137630;AMYH01013155;NG_033126;NR_029948 MIRN425;hsa-mir-425 APPROVED miscrna ENSG00000199032 31882 VALIDATED 4108871 MIR4254 microRNA 4254 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 30493497 30493572 - 32224261 32224336 - 16381832;19784364 100423028 ABBA01023452;AL354919;AMYH01000460;NR_036216 APPROVED miscrna ENSG00000266580 38193 PROVISIONAL 4109013 MIR4255 microRNA 4255 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 35905168 35905239 + 37627164 37627235 + 16381832;19784364 100422898 ABBA01023289;AL031430;AMYH01000501;NR_036217 2173002 AL009550 APPROVED miscrna ENSG00000264698 38187 PROVISIONAL 4108935 MIR4256 microRNA 4256 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 111234924 111234987 - 113004392 113004455 - 16381832;19784364 100422976 ABBA01068406;AL354760;AMYH01000949;NR_036210 1650944 D1S2594 APPROVED miscrna 38388 PROVISIONAL 4108877 MIR4258 microRNA 4258 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 128019194 128019284 + 154948169 154948259 + 16381832;19784364 100423020 ABBA01016724;AL451085;AMYH01001420;NG_029028;NR_036212 APPROVED miscrna 38281 VALIDATED 4108963 MIR4257 microRNA 4257 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 123640169 123640254 + 150524405 150524490 + 16381832;19784364 100422997 ABBA01049348;AL356356;AMYH01001379;NR_036211 APPROVED miscrna ENSG00000264553 38312 PROVISIONAL 4109023 MIR4260 microRNA 4260 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 183027699 183027765 - 209796789 209796855 - 16381832;19784364 100422894 ABBA01048215;AL031316;AMYH01001696;NR_036213 APPROVED miscrna 38179 PROVISIONAL 4108943 MIR4252 microRNA 4252 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 5604405 5604467 - 6489894 6489956 - 16381832;19784364 100422975 ABBA01035449;AL031848;AMYH01000212;NR_036218 1724561 RH122540 APPROVED miscrna ENSG00000265392 38384 PROVISIONAL 4108979 MIR4261 microRNA 4261 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 10248794 10248851 - 10332740 10332797 - 16381832;19784364 100422929 ABBA01015608;AC007240;AMYH01010100;NR_036222 APPROVED miscrna ENSG00000265418 38272 PROVISIONAL 4109010 MIR4253 microRNA 4253 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 21511793 21511860 - 23189652 23189719 - 16381832;19784364 100422914 ABBA01059859;AL512444;AMYH01000354;NR_036214 APPROVED miscrna ENSG00000264014 38231 PROVISIONAL 4108923 MIR4262 microRNA 4262 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 11894198 11894251 - 11977059 11977112 - 16381832;19784364 100422996 ABBA01015656;AC012456;AMYH01010117;NR_036226 APPROVED miscrna ENSG00000265172 38308 PROVISIONAL 4108950 MIR4263 microRNA 4263 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 28064254 28064336 + 28219234 28219316 + 16381832;19784364 100422965 ABBA01045223;AC021171;AMYH01010200;NR_036230 APPROVED miscrna 38365 PROVISIONAL 4109021 MIR4264 microRNA 4264 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 79705135 79705200 - 79876420 79876485 - 16381832;19784364 100422888 ABBA01075676;AC096573;AMYH01010474;NR_036231 APPROVED miscrna ENSG00000266436 38338 PROVISIONAL 4108918 MIR4267 microRNA 4267 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 110827538 110827619 - 16381832;19784364 100422994 ABBA01202645;AC013268;AMYH01010910;NR_036225 APPROVED miscrna ENSG00000265682 38286 PROVISIONAL 4109045 MIR4265 microRNA 4265 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 104067717 104067815 - 109757946 109758044 - 16381832;19784364 100422863 ABBA01000772;AC010906;AMYH01010857;NR_036223 APPROVED miscrna ENSG00000264934 38358 PROVISIONAL 4108875 MIR4266 microRNA 4266 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 104239280 104239334 - 109930027 109930081 - 16381832;19784364 100423027 ABBA01000777;AC010906;AMYH01010858;NR_036224 APPROVED miscrna ENSG00000265965 38175 PROVISIONAL 4108859 MIR4269 microRNA 4269 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 233922309 233922392 + 240227157 240227240 + 16381832;19784364 100423043 ABBA01033520;AC062017;AMYH01011611;NR_036229 APPROVED miscrna ENSG00000265215 38291 PROVISIONAL 4109039 MIR4270 microRNA 4270 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 15475974 15476043 - 15537746 15537815 - 16381832;19784364 100422868 ABBA01025141;AC027129;AMYH01013002;NR_036232 APPROVED miscrna 38377 PROVISIONAL 4108968 MIR4272 microRNA 4272 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 67219282 67219345 + 67275888 67275951 + 16381832;19784364 100422941 ABBA01030877;AC112515;AMYH01013257;NR_036234 APPROVED miscrna 38303 PROVISIONAL 4109078 MIR4274 microRNA 4274 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 7366211 7366304 + 7461755 7461845 + 16381832;19784364 100422826 AC116316;NR_036238 APPROVED miscrna 38194 PROVISIONAL 4108975 MIR4275 microRNA 4275 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 29271602 29271688 + 28821204 28821290 + 16381832;19784364 100422937 ABBA01032754;AC096566;AMYH01014087;NR_036237 APPROVED miscrna 38293 PROVISIONAL 4108885 MIR4276 microRNA 4276 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 172673670 172673739 + 175344946 175345015 + 16381832;19784364 100423042 ABBA01070390;AC122137;AMYH01014724;NR_036236 1709544 SHGC-81855 APPROVED miscrna ENSG00000265846 38232 PROVISIONAL 4108944 MIR4277 microRNA 4277 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 1745851 1745934 - 1708900 1708983 - 16381832;19784364 100422966 ABBA01034196;AC026412;AMYH01014864;NR_036240 APPROVED miscrna ENSG00000263746 38367 PROVISIONAL 4108952 MIR4268 microRNA 4268 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 214541168 214541230 - 220771223 220771286 - 16381832;19784364 100422959 ABBA01023834;AC008281;AMYH01011511;NR_036228 1803102;1803238;1967916;1967918;1967920;1967922;1967924;1967926;1967928;1967930;1967932;1967934 ECD02442;ECD02512;REN54834;REN54835;REN54836;REN54837;REN54838;REN54839;REN54840;REN54841;REN54842;REN54843 APPROVED miscrna ENSG00000266518 38352 PROVISIONAL 4108960 MIR4271 microRNA 4271 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 49274995 49275061 + 49311553 49311619 + 6480464 16381832;19784364 100422952 ABBA01024601;AC121247;AMYH01013156;NR_036233 APPROVED miscrna ENSG00000264633 38332 PROVISIONAL 4108954 MIR4273 microRNA 4273 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 76531200 76531283 + 75787431 75787514 + 16381832;19784364 100422955 ABBA01030991;AC108724;AMYH01013292;NR_036235 APPROVED miscrna ENSG00000266396 38339 PROVISIONAL 4108983 MIR4278 microRNA 4278 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 6856829 6856897 - 6827966 6828034 - 16381832;19784364 100422999 ABBA01016151;AC122710;AMYH01014881;NR_036242 APPROVED miscrna 38243 PROVISIONAL 4109020 MIR4280 microRNA 4280 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 82302501 82302576 - 86410696 86410771 - 16381832;19784364 100422887 ABBA01062120;AC109492;AMYH01015468;NR_036243 APPROVED miscrna ENSG00000265919 38334 PROVISIONAL 4108948 MIR4281 microRNA 4281 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 172443753 172443814 + 176056440 176056501 - 16381832;19784364 100422962 ABBA01033485;AC091934;AMYH01015864;NR_036239 APPROVED miscrna 38357 PROVISIONAL 4108889 MIR4282 microRNA 4282 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 74070545 74070611 - 73677410 73677476 - 16381832;19784364 100423005 ABBA01040301;AL360232;AMYH01016421;NR_036244 APPROVED miscrna ENSG00000266180 38189 PROVISIONAL 4109074 MIR4287 microRNA 4287 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 26703366 26703443 - 27743556 27743633 - 16381832;19784364 100422828 ABBA01005593;AC069113;AMYH01018602;NR_036249 APPROVED miscrna 38208 PROVISIONAL 4108961 MIR4284 microRNA 4284 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 68603852 68603932 + 73125647 73125727 + 16381832;19784364 100422948 ABBA01063942;AC073846;AMYH01017538;NR_036247 APPROVED miscrna ENSG00000265724 38322 PROVISIONAL 4109049 MIR4285 microRNA 4285 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 96945395 96945479 + 101936369 101936453 + 16381832;19784364 100422858 ABBA01011294;AC005088;AMYH01017767;NR_036245 APPROVED miscrna 38337 PROVISIONAL 4108930 MIR4286 microRNA 4286 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 9652362 9652454 + 10524488 10524580 + 16381832;19784364 100422982 ABBA01026889;AC105001;AMYH01018477;NR_036248 APPROVED miscrna ENSG00000263762 38186 PROVISIONAL 4109035 MIR4279 microRNA 4279 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 31816809 31816866 - 31936208 31936265 - 16381832;19784364 100422874 ABBA01066726;AC025458;AMYH01014993;NR_036241 APPROVED miscrna ENSG00000266243 38195 PROVISIONAL 4109011 MIR4288 microRNA 4288 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 p21 27322500 27322566 - 28362633 28362699 - 16381832;19784364 100422903 ABBA01005603;AC011132;AMYH01018604;NG_029723;NR_036250 APPROVED miscrna ENSG00000265251 38203 VALIDATED 4109055 MIR4283-2 microRNA 4283-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 63081468 63081547 + 16381832;19784364 100422848 ABBA01226249;AC006015;AC069152;AMYH01017413;NR_036270 APPROVED miscrna ENSG00000265214 38296 PROVISIONAL 4108992 MIR4283-1 microRNA 4283-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 57023492 57023571 - 16381832;19784364 100422917 ABBA01121201;AC069152;AC122133;AMYH01017304;NR_036246 APPROVED miscrna ENSG00000264426 38238 PROVISIONAL 4109014 MIR4294 microRNA 4294 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 43779176 43779251 - 50193557 50193632 - 16381832;19784364 100422895 ABBA01047231;AC060234;AMYH01002640;NR_036182 APPROVED miscrna ENSG00000264800 38180 PROVISIONAL 4108997 MIR4295 microRNA 4295 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 108121641 108121725 + 114393929 114394013 + 16381832;19784364 100422909 ABBA01063003;AL139120;AMYH01003075;NR_036177 APPROVED miscrna 38220 PROVISIONAL 4108881 MIR4289 microRNA 4289 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 61942008 61942077 - 91360751 91360820 - 16381832;19784364 100423015 ABBA01016766;AL390791;AMYH01021494;NR_036252 APPROVED miscrna ENSG00000265873 38278 PROVISIONAL 4108982 MIR4291 microRNA 4291 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 67023243 67023307 + 96581639 96581703 + 16381832;19784364 100422927 ABBA01017681;AL442224;AMYH01021516;NR_036254 APPROVED miscrna ENSG00000265347 38267 PROVISIONAL 1605756 MIR429 microRNA 429 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.33 1478391 1478473 - 1094247 1094329 + 1104385 1104467 + 6480464 18381893;21277012;15735639;15891114;16381832;17604727;17616659;20484493;20514023;19501389;19801681;20668090;21079000;21785383;22576799;23111103 554210 ABBA01016022;AL390719;AMYH01000116;NR_029957 MIRN429;hsa-mir-429 APPROVED miscrna ENSG00000198976 13784 612094 PROVISIONAL 4108949 MIR4290 microRNA 4290 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 63220343 63220437 - 92785723 92785817 - 16381832;19784364 100422963 ABBA01012832;AL161629;AMYH01021500;NR_036253 APPROVED miscrna ENSG00000263967 38360 PROVISIONAL 4109062 MIR4293 microRNA 4293 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 14352830 14352907 - 14425199 14425276 - 16381832;19784364 100422843 ABBA01034613;AL139405;AMYH01002051;NR_036181 APPROVED miscrna ENSG00000266321 38270 PROVISIONAL 4109046 MIR4292 microRNA 4292 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 110239196 110239262 + 139725409 139725475 + 16381832;19784364 100422860 ABBA01022722;AL355987;AMYH01021874;NG_031950;NR_036251 APPROVED miscrna 38348 VALIDATED 4108876 MIR4298 microRNA 4298 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 1918459 1918531 - 1880694 1880766 - 16381832;19784364 100423021 ABBA01012161;AC051649;AMYH01003315;NR_036185 1822242 ECD12207 APPROVED miscrna ENSG00000264493 38313 PROVISIONAL 4109082 MIR4300 microRNA 4300 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 78910624 78910719 - 81601783 81601878 - 16381832;19784364 100422823 ABBA01017378;AMYH01003835;AP002802;NR_036186 1852403 D11S4453 APPROVED miscrna ENSG00000264110 38184 PROVISIONAL 4109052 MIR4301 microRNA 4301 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 110473681 110473746 - 113320745 113320810 - 16381832;19784364 100422855 ABBA01039788;AMYH01004038;AP002840;NR_036183 APPROVED miscrna ENSG00000265140 38323 PROVISIONAL 4109017 MIR4302 microRNA 4302 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 31173428 31173487 - 26026953 26027012 - 16381832;19784364 100422897 ABBA01068027;AC019209;AMYH01004344;NR_036188 APPROVED miscrna 38185 PROVISIONAL 4108898 MIR4296 microRNA 4296 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 120495159 120495246 - 126721352 126721439 - 16381832;19784364 100423041 ABBA01034161;AL731571;AMYH01003159;NR_036178 APPROVED miscrna 38178 PROVISIONAL 4108886 MIR4299 microRNA 4299 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11802439 11802510 - 11678198 11678269 - 16381832;19784364 100423026 ABBA01061143;AC131935;AMYH01003393;NR_036184 APPROVED miscrna ENSG00000266645 38329 PROVISIONAL 4108981 MIR4304 microRNA 4304 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 123088004 123088065 - 123495214 123495275 - 16381832;19784364 100422931 ABBA01060438;AC026362;AMYH01004835;NR_036187 APPROVED miscrna 38276 PROVISIONAL 4108878 MIR4307 microRNA 4307 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 7242247 7242330 + 27377848 27377931 + 16381832;19784364 100423019 ABBA01061365;AL110292;AMYH01005622;NR_036193 APPROVED miscrna ENSG00000265165 38257 PROVISIONAL 4108970 MIR4305 microRNA 4305 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 21290882 21290983 - 40238171 40238272 - 16381832;19784364 100422940 ABBA01021310;AL512505;AMYH01005050;NG_028352;NR_036190 APPROVED miscrna ENSG00000264171 38301 VALIDATED 4108986 MIR4303 microRNA 4303 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 98052955 98053020 - 98389161 98389226 - 16381832;19784364 100422924 ABBA01053295;AC007297;AMYH01004688;NR_036189 APPROVED miscrna ENSG00000263890 38256 PROVISIONAL 4109085 MIR4306 microRNA 4306 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 81139832 81139922 + 100295313 100295403 + 16381832;19784364 100422861 ABBA01027117;AL359748;AMYH01005327;NR_036191 APPROVED miscrna 38350 PROVISIONAL 4108928 MIR4308 microRNA 4308 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 35394318 35394398 - 55344831 55344911 - 16381832;19784364 100422984 ABBA01018198;AL160471;AMYH01005744;NR_036194 APPROVED miscrna 38206 PROVISIONAL 4109033 MIR4297 microRNA 4297 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 125313491 125313566 - 131641563 131641638 - 16381832;19784364 100422873 ABBA01009115;AL354950;AMYH01003180;NG_030038;NR_036179 APPROVED miscrna 38393 VALIDATED 4108956 MIR4309 microRNA 4309 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 83060197 83060279 + 103005981 103006063 + 16381832;19784364 100422954 ABBA01048469;AL136293;AMYH01006033;NR_036192 APPROVED miscrna ENSG00000266015 38336 PROVISIONAL 4108883 MIR4310 microRNA 4310 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 18926335 18926391 - 42158693 42158749 - 16381832;19784364 100423013 ABBA01038386;AC020659;AMYH01006579;NR_036195 APPROVED miscrna 38383 PROVISIONAL 4109004 MIR4311 microRNA 4311 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 43210283 43210382 + 66332571 66332670 + 16381832;19784364 100422905 ABBA01038834;AC011847;AMYH01006720;NR_036196 APPROVED miscrna ENSG00000263512 38207 PROVISIONAL 4108863 MIR4313 microRNA 4313 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 52980235 52980335 - 76054556 76054656 - 16381832;19784364 100423035 ABBA01060538;AC019294;AMYH01006819;NR_036198 APPROVED miscrna ENSG00000265440 38310 PROVISIONAL 4108895 MIR4315-1 microRNA 4315-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 43552729 43552801 - 16381832;19784364 100423004 ABBA01017256;AC091132;AC217778;AMYH01008442;NR_036199 2129313 D17S1557 APPROVED miscrna 38342 PROVISIONAL 4108929 MIR4314 microRNA 4314 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 8019018 8019109 + 7991374 7991465 + 16381832;19784364 100422983 ABBA01054895;AC129492;AMYH01008088;NR_036201 APPROVED miscrna ENSG00000264005 38191 PROVISIONAL 4108951 MIR4315-2 microRNA 4315-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 62818148 62818220 - 16381832;19784364 100422961 ABBA01011157;AC103810;AMYH01008563;NR_036271 2129313 D17S1557 APPROVED miscrna 38356 PROVISIONAL 4108941 MIR4312 microRNA 4312 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 45983359 45983434 - 69094189 69094264 - 16381832;19784364 100422971 ABBA01038773;AC087639;AMYH01006740;NR_036197 APPROVED miscrna 38376 PROVISIONAL 1604871 MIR431 microRNA 431 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81401163 81401276 + 100417096 100417209 + 101347344 101347457 + 6480464 15891114;16381832;17604727;22293894;22456620 574038 ABBA01048516;AL117190;AMYH01006015;NR_029965 MIRN431;hsa-mir-431;miRNA431 APPROVED miscrna ENSG00000208001 32027 611708 PROVISIONAL 4109071 MIR4317 microRNA 4317 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 6259651 6259715 - 6374360 6374424 - 16381832;19784364 100422840 ABBA01049893;AMYH01008789;AP005060;NR_036205 APPROVED miscrna 38260 PROVISIONAL 4109051 MIR4318 microRNA 4318 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 32048017 32048097 + 35237098 35237178 + 16381832;19784364 100422857 ABBA01022418;AC009899;AMYH01008942;NR_036202 APPROVED miscrna ENSG00000266530 38333 PROVISIONAL 4109054 MIR4316 microRNA 4316 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 71988913 71988983 - 75393066 75393136 - 16381832;19784364 100422851 ABBA01028698;AC111182;AMYH01008656;NR_036200 APPROVED miscrna ENSG00000264060 38306 PROVISIONAL 1603771 MIR432 microRNA 432 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81404642 81404735 + 100420572 100420665 + 101350820 101350913 + 6480464 15965474;16274478;16381832;17604727;23728176 574451 ABBA01048516;AL117190;AMYH01006015;AY785934;NR_030173 MIRN432;hsa-mir-432 APPROVED miscrna 32083 PROVISIONAL 4109075 MIR4319 microRNA 4319 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 39358384 39358468 - 42550047 42550131 - 16381832;19784364;22219177 100422829 ABBA01022341;AC105074;AMYH01008969;NR_036203 APPROVED miscrna ENSG00000265957 38212 PROVISIONAL 4109040 MIR4320 microRNA 4320 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 44509455 44509519 - 47652869 47652933 - 16381832;19784364 100422865 ABBA01018668;AC105224;AMYH01008994;NR_036204 APPROVED miscrna 38369 PROVISIONAL 4108987 MIR4322 microRNA 4322 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 p13.2 10236476 10236548 + 10341089 10341161 + 16381832;19784364 100422925 ABBA01029944;AC011511;AMYH01009467;NG_028016;NR_036206 APPROVED miscrna ENSG00000264266 38261 VALIDATED 4108865 MIR4321 microRNA 4321 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 2184814 2184893 + 2250638 2250717 + 16381832;19784364 100423031 ABBA01002714;AC005263;AMYH01009278;NG_012190;NG_032853;NR_036207 APPROVED miscrna 38244 VALIDATED 4108887 MIR4329 microRNA 4329 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 112508577 112508647 - 112023946 112024016 - 16381832;19784364 100423009 ABBA01043131;AC004827;AMYH01022847;NR_036255 APPROVED miscrna 38290 PROVISIONAL 4109024 MIR4325 microRNA 4325 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 52636796 52636885 - 55896558 55896647 - 16381832;19784364 100422883 ABBA01052923;AL135939;AMYH01012008;NR_036219 APPROVED miscrna ENSG00000266666 38304 PROVISIONAL 4108976 MIR4328 microRNA 4328 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 78397103 78397158 - 78156691 78156746 - 16381832;19784364 100422932 ABBA01030147;AMYH01022638;NR_036258;Z82200 APPROVED miscrna 38280 PROVISIONAL 4108936 MIR4324 microRNA 4324 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 46678905 46678976 - 49812054 49812125 - 16381832;19784364 100422979 ABBA01032934;AC011450;AMYH01009911;NR_036209 APPROVED miscrna 38392 PROVISIONAL 4108939 MIR4323 microRNA 4323 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 39437211 39437279 - 42637597 42637665 - 16381832;19784364 100422980 ABBA01040838;AC010247;AMYH01009824;NG_030365;NR_036208 APPROVED miscrna ENSG00000266226 38394 VALIDATED 4109016 MIR4327 microRNA 4327 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 16930746 16930830 - 31747612 31747696 - 16381832;19784364 100422891 ABBA01057270;AMYH01012189;AP000885;NR_036221 APPROVED miscrna ENSG00000265007 38355 PROVISIONAL 4108965 MIR4326 microRNA 4326 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 58595636 58595694 + 61918160 61918218 + 16381832;19784364 100422945 ABBA01021393;AL121827;AMYH01012076;NR_036220 APPROVED miscrna 38314 PROVISIONAL 1604872 MIR433 microRNA 433 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81402042 81402134 + 100417975 100418067 + 101348223 101348315 + 6480464 19531230;15891114;19946636;20471450;16381832;17604727;20181727;22864358 574034 ABBA01048516;AL117190;AMYH01006015;NR_029966 MIRN433;hsa-mir-433;miRNA433 APPROVED miscrna 32026 611711 PROVISIONAL 4108980 MIR4330 microRNA 4330 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 150585008 150585112 + 150336694 150336798 + 16381832;19784364 100422930 ABBA01037200;AF003625;AMYH01023219;NR_036256 1701748 DXS7077 APPROVED miscrna ENSG00000265789 38273 PROVISIONAL 5133880 MIR4417 microRNA 4417 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 5624131 5624203 + 16381832;20733160 100616489 ABBA01015256;AMYH01000204;NR_039612;Z97988 APPROVED miscrna ENSG00000264341 41535 PROVISIONAL 5133992 MIR4419A microRNA 4419a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 23384351 23384427 - 16381832;20733160 100616177 ABBA01059861;AL031428;AMYH01000356;NR_039614 APPROVED miscrna ENSG00000266802 41828 PROVISIONAL 5133996 MIR4420 microRNA 4420 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 31212003 31212079 - 16381832;20733160 100616164 ABBA01023497;AL137027;AMYH01000449;NR_039616 APPROVED miscrna 41772 PROVISIONAL 5133904 MIR4418 microRNA 4418 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 22592732 22592793 + 16381832;20733160 100616433 ABBA01059843;AL031279;AMYH01000349;NR_039613 APPROVED miscrna ENSG00000266564 41789 PROVISIONAL 5133948 MIR4419B microRNA 4419b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 128729051 128729118 + 16381832;20733160 100616298 ABBA01060294;AC061709;AMYH01004868;NR_039720 APPROVED miscrna ENSG00000265061 41724 PROVISIONAL 5133859 MIR4423 microRNA 4423 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 85599477 85599556 + 21911355;16381832;20733160;21199797 100616481 ABBA01045643;AL358789;AMYH01000754;NR_039619 APPROVED miscrna ENSG00000266110 41784 PROVISIONAL 5133931 MIR4424 microRNA 4424 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 178646884 178646969 + 16381832;20733160 100616328 ABBA01027829;AL449106;AMYH01001525;NR_039622 APPROVED miscrna ENSG00000266417 41805 PROVISIONAL 5133872 MIR4422 microRNA 4422 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 55691314 55691396 + 16381832;20733160;21199797 100616272 ABBA01074698;AC091609;AMYH01000641;NR_039618 APPROVED miscrna ENSG00000265822 41654 PROVISIONAL 5133920 MIR4425 microRNA 4425 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 25349994 25350077 + 16381832;20733160 100616365 ABBA01059925;AL050344;AMYH01000379;NR_039623 APPROVED miscrna ENSG00000264371 41891 PROVISIONAL 5134006 MIR4428 microRNA 4428 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 237634419 237634491 + 16381832;20733160 100616141 ABBA01033180;AL445473;AMYH01001865;NG_008799;NR_039626 APPROVED miscrna 41667 PROVISIONAL 5133911 MIR4427 microRNA 4427 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 233759898 233759965 + 16381832;20733160 100616390 ABBA01033079;AL356357;AMYH01001830;NR_039625 APPROVED miscrna 41678 PROVISIONAL 5133889 MIR4429 microRNA 4429 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 11680731 11680803 - 16381832;20733160 100616469 ABBA01015652;AC011994;AMYH01010113;NR_039627 APPROVED miscrna ENSG00000264010 41579 PROVISIONAL 5134008 MIR4430 microRNA 4430 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 33643583 33643631 + 16381832;20733160 100616136 ABBA01074908;AC020594;AMYH01010240;NR_039628 APPROVED miscrna 41646 PROVISIONAL 5134848 MIR4426 microRNA 4426 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 192685458 192685520 + 16381832;20733160 100616345 ABBA01027643;AL136454;AMYH01001591;NR_039624 APPROVED miscrna 41848 PROVISIONAL 5133953 MIR4433 microRNA 4433 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 64567893 64567973 + 21558790;16381832;20733160 100616265 ABBA01075417;AC114752;AMYH01010399;NR_039632 APPROVED miscrna ENSG00000264297 41634 PROVISIONAL 5133985 MIR4421 microRNA 4421 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 51525509 51525577 + 16381832;20733160 100616189 ABBA01074815;AL590455;AMYH01000610;NR_039617 APPROVED miscrna ENSG00000265538 41879 PROVISIONAL 5133874 MIR4435-1 microRNA 4435-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 87929274 87929353 + 16381832;20733160 100616499 AC133965;AMYH01010573;NR_039634 APPROVED miscrna ENSG00000265507 41713 PROVISIONAL 5133892 MIR4432 microRNA 4432 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 60614497 60614580 - 16381832;20733160 100616473 ABBA01075326;AC007381;AMYH01010379;NR_039631 APPROVED miscrna ENSG00000266078 41649 PROVISIONAL 5133902 MIR4431 microRNA 4431 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 52929660 52929753 - 16381832;20733160 100616431 ABBA01075230;AC019196;AMYH01010353;NR_039630 APPROVED miscrna ENSG00000264975 41738 PROVISIONAL 5133906 MIR4434 microRNA 4434 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 64752647 64752699 + 16381832;20733160 100616419 ABBA01075420;AC008074;AMYH01010401;NR_039633 APPROVED miscrna 41832 PROVISIONAL 5133925 MIR4435-2 microRNA 4435-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 112078590 112078663 - 16381832;20733160 100616341 ABBA01196303;AC068491;AMYH01010931;NR_039636 APPROVED miscrna ENSG00000266139 41837 PROVISIONAL 5133973 MIR4437 microRNA 4437 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 182170320 182170379 - 16381832;20733160 100616213 ABBA01062286;AC013473;AMYH01011314;NR_039637 APPROVED miscrna ENSG00000266705 41715 PROVISIONAL 5133867 MIR4436A microRNA 4436a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 89111884 89111968 + 16381832;20733160;21199797 100616399 ABBA01018823;AC096579;AMYH01010629;NR_039635 APPROVED miscrna ENSG00000265510 41762 PROVISIONAL 5133916 MIR4438 microRNA 4438 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 214622791 214622883 + 16381832;20733160 100616375 ABBA01062774;AC009964;AMYH01011480;NR_039640 APPROVED miscrna 41555 PROVISIONAL 5133979 MIR4439 microRNA 4439 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 225875178 225875257 - 16381832;20733160 100616207 ABBA01023759;AC017095;AMYH01011530;NR_039641 APPROVED miscrna 41622 PROVISIONAL 5133878 MIR4441 microRNA 4441 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 240007523 240007622 - 16381832;20733160 100616493 ABBA01033523;AC017028;AMYH01011610;NR_039643 APPROVED miscrna 41728 PROVISIONAL 5133888 MIR4442 microRNA 4442 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 25706364 25706430 - 16381832;20733160 100616477 ABBA01025019;AC093416;AMYH01013035;NR_039644 APPROVED miscrna ENSG00000264219 41718 PROVISIONAL 6483954 MIR4436B2 microRNA 4436b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 111042430 111042520 + 16381832;21199797 100847033 AC140479;AMYH01010915;NR_049830 miscrna 43451 PROVISIONAL 5133907 MIR4443 microRNA 4443 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 48238054 48238106 + 16381832;20733160 100616407 ABBA01024655;AC104190;AMYH01013148;NR_039645 APPROVED miscrna ENSG00000265483 41830 PROVISIONAL 5133912 MIR4440 microRNA 4440 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 239990513 239990610 - 16381832;20733160 100616397 ABBA01033524;AC017028;AMYH01011610;NR_039642 APPROVED miscrna 41740 PROVISIONAL 5134017 MIR4445 microRNA 4445 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 109321675 109321744 + 16381832;20733160 100616129 ABBA01061687;AC078858;AMYH01013386;NR_039647 APPROVED miscrna ENSG00000265956 41614 PROVISIONAL 5687369 MIR4436B1 microRNA 4436b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 110844010 110844100 - 16381832;21199797 100616123 ABBA01015964;AC013268;NR_039941 MIR4436B;hsa-mir-4436b-1 miscrna 41587 PROVISIONAL 5686937 MIR4444-1 microRNA 4444-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 178077454 178077527 + 16381832;20733160 100616394 ABBA01062230;AC079305;AMYH01011297;NR_039646 MIR4444;hsa-mir-4444-1 miscrna ENSG00000263721 41710 PROVISIONAL 5133883 MIR4447 microRNA 4447 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 116569124 116569214 - 16381832;20733160 100616485 ABBA01061609;AC133796;AMYH01013409;NR_039649 APPROVED miscrna ENSG00000265433 41850 PROVISIONAL 5133943 MIR4450 microRNA 4450 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 77494721 77494785 + 16381832;20733160 100616299 ABBA01063363;AC112249;AMYH01014315;NR_039654 APPROVED miscrna 41725 PROVISIONAL 5133898 MIR4449 microRNA 4449 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 53578849 53578914 + 16381832;20733160 100616436 ABBA01003380;AC104066;AMYH01014179;NR_039651 APPROVED miscrna ENSG00000264585 41864 614627 PROVISIONAL 5133861 MIR4446 microRNA 4446 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 113313723 113313789 + 16381832;20733160;21199797 100616476 ABBA01061651;AC112128;AMYH01013396;NR_039648 APPROVED miscrna 41700 PROVISIONAL 5133921 MIR4451 microRNA 4451 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 86643621 86643686 + 16381832;20733160 100616349 ABBA01063492;AC097108;AMYH01014369;NR_039656 APPROVED miscrna 41858 PROVISIONAL 5133967 MIR4454 microRNA 4454 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 q32.2 164014726 164014780 - 16381832;20733160 100616234 ABBA01070267;AC022272;AMYH01014664;NR_039659 APPROVED miscrna 41553 PROVISIONAL 5134015 MIR4448 microRNA 4448 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 183604588 183604673 + 16381832;20733160 100616127 ABBA01058468;AC068644;AMYH01013709;NR_039650 APPROVED miscrna ENSG00000263932 41604 PROVISIONAL 5133886 MIR4452 microRNA 4452 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 87463635 87463705 - 16381832;20733160 100616463 ABBA01063503;AC110076;AMYH01014371;NR_039657 APPROVED miscrna ENSG00000266515 41539 PROVISIONAL 5133913 MIR4456 microRNA 4456 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 535955 535997 - 16381832;20733160 100616381 ABBA01034253;AC106772;AMYH01014831;NR_039661 APPROVED miscrna ENSG00000264233 41606 PROVISIONAL 5134014 MIR4455 microRNA 4455 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 185859537 185859594 - 16381832;20733160 100616111 ABBA01070523;AC084871;AMYH01014770;NR_039660 APPROVED miscrna ENSG00000263458 41536 PROVISIONAL 5133980 MIR4453 microRNA 4453 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 153457580 153457668 + 16381832;20733160 100616193 ABBA01070123;AC023424;AMYH01014621;NR_039658 APPROVED miscrna ENSG00000263408 41892 VALIDATED 5134005 MIR4458 microRNA 4458 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 p15.31 8461038 8461112 + 16381832;20733160 100616142 ABBA01020583;AC091965;AMYH01014895;NR_039663 APPROVED miscrna ENSG00000266471 41674 PROVISIONAL 5133969 MIR4457 microRNA 4457 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 1309425 1309492 - 16381832;20733160 100616235 ABBA01034205;AC114291;AMYH01014857;NR_039662 APPROVED miscrna ENSG00000263670 41554 PROVISIONAL 5133965 MIR4459 microRNA 4459 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 53371348 53371413 - 16381832;20733160 100616233 ABBA01015726;AC016601;AMYH01015086;NR_039664 APPROVED miscrna 41551 PROVISIONAL 5133977 MIR4461 microRNA 4461 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 134263729 134263802 + 16381832;20733160 100616209 AC008670;AMYH01015626;NR_039666 APPROVED miscrna 41656 PROVISIONAL 5133901 MIR4462 microRNA 4462 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 37523141 37523198 - 16381832;20733160 100616413 ABBA01038287;AL353597;AMYH01016284;NR_039669 APPROVED miscrna ENSG00000263926 41549 PROVISIONAL 5133932 MIR4460 microRNA 4460 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 128732755 128732840 - 16381832;20733160 100616325 AC106781;AMYH01015605;NR_039665 APPROVED miscrna ENSG00000265691 41795 PROVISIONAL 5133994 MIR4465 microRNA 4465 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 141004951 141005020 + 16381832;20733160 100616180 ABBA01025776;AL591400;AMYH01016712;NR_039675 APPROVED miscrna ENSG00000264390 41842 PROVISIONAL 5133914 MIR4463 microRNA 4463 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 76138123 76138189 + 16381832;20733160 100616389 ABBA01040357;AL445465;AMYH01016438;NR_039670 APPROVED miscrna ENSG00000263533 41665 PROVISIONAL 5134016 MIR4464 microRNA 4464 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 91022461 91022552 + 16381832;20733160 100616109 AL132996;AMYH01016508;NR_039671 APPROVED miscrna ENSG00000266760 41528 PROVISIONAL 5133871 MIR4469 microRNA 4469 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 42751340 42751418 - 16381832;20733160;21199797 100616115 ABBA01021175;AC009634;AMYH01018690;NG_032868;NR_039679 APPROVED miscrna ENSG00000266044 41556 VALIDATED 5133869 MIR4467 microRNA 4467 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 102111916 102111978 + 16381832;20733160;21199797 100616367 ABBA01011281;AC093668;AMYH01017770;NR_039677 APPROVED miscrna 41896 PROVISIONAL 5134849 MIR4468 microRNA 4468 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 137808504 137808567 + 16381832;20733160 100616226 AACC02000025;ABBA01001155;AC083867;AMYH01017968;CH236950;NR_039678 APPROVED miscrna ENSG00000266193 41533 PROVISIONAL 5133884 MIR4470 microRNA 4470 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 62627347 62627418 + 16381832;20733160 100616484 ABBA01041827;AC067881;AMYH01018761;NR_039680 APPROVED miscrna ENSG00000264408 41833 PROVISIONAL 5133995 MIR4466 microRNA 4466 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 157100812 157100865 - 16381832;20733160 100616154 ABBA01025556;AL355297;AMYH01016772;NG_032093;NR_039676 APPROVED miscrna 41726 VALIDATED 5133863 MIR4471 microRNA 4471 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 101394991 101395073 + 16381832;20733160;21199797 100616451 AMYH01018926;AP003472;NR_039681 APPROVED miscrna ENSG00000265599 41657 PROVISIONAL 5133962 MIR4473 microRNA 4473 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 20411146 20411236 - 16381832;20733160 100616229 ABBA01065186;AL513498;AMYH01019273;NR_039684 APPROVED miscrna 41540 PROVISIONAL 5133946 MIR4475 microRNA 4475 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 36823536 36823596 - 16381832;20733160 100616289 ABBA01050410;AL450267;AMYH01019352;NR_039686 APPROVED miscrna ENSG00000266255 41697 PROVISIONAL 5133864 MIR4474 microRNA 4474 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 20502263 20502340 - 21606961;16381832;20733160;21199797 100616441 ABBA01065186;AL163193;AMYH01019273;NR_039685 APPROVED miscrna 41821 PROVISIONAL 5133938 MIR4472-2 microRNA 4472-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 116866057 116866123 - 16381832;20733160 100616309 ABBA01020011;AC079384;AMYH01004777;NR_039683 APPROVED miscrna ENSG00000264037 41752 PROVISIONAL 5133894 MIR4476 microRNA 4476 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 36893459 36893528 - 16381832;20733160 100616456 ABBA01050410;AL450267;AMYH01019352;NR_039687 APPROVED miscrna 41793 PROVISIONAL 5133993 MIR4477A microRNA 4477a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 68415308 68415388 - 16381832;20733160 100616184 ABBA01031674;AMYH01021214;CR786580;NR_039688 APPROVED miscrna 41859 PROVISIONAL 5133951 MIR4472-1 microRNA 4472-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 143257700 143257779 + 16381832;20733160 100616268 ABBA01029394;AC103758;AMYH01019081;NR_039682 APPROVED miscrna ENSG00000265247 41644 PROVISIONAL 5133983 MIR4477B microRNA 4477b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 68415308 68415388 + 16381832;20733160 100616194 ABBA01031674;AMYH01021214;CR786580;NR_039689 APPROVED miscrna ENSG00000266017 41898 PROVISIONAL 5133891 MIR4479 microRNA 4479 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 139781185 139781255 + 16381832;20733160 100616480 AL355987;AMYH01021880;NR_039697 APPROVED miscrna ENSG00000266507 41767 PROVISIONAL 5133941 MIR4478 microRNA 4478 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 124882361 124882446 - 16381832;20733160 100616312 ABBA01043709;AL162423;AMYH01021694;NR_039690 APPROVED miscrna ENSG00000266583 41759 PROVISIONAL 1605755 MIR448 microRNA 448 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q23 114493182 114493292 + 113964272 113964382 + 114058017 114058127 + 6480464 15735639;16381832 554212 ABBA01053610;AL590097;AMYH01022851;NR_029955 MIRN448;hsa-mir-448;miRNA448 APPROVED miscrna 26069 300686 PROVISIONAL 5133936 MIR4482-1 microRNA 4482-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 106028094 106028163 - 21558790;16381832;20733160 100616323 ABBA01063087;AL139341;AMYH01003033;NR_039702 MIR4482;hsa-mir-4482-1 APPROVED miscrna 41792 PROVISIONAL 5133939 MIR4481 microRNA 4481 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 12695137 12695196 - 16381832;20733160 100616320 ABBA01034640;AL731559;AMYH01002035;NR_039701 APPROVED miscrna 41781 PROVISIONAL 5133998 MIR4483 microRNA 4483 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 115537752 115537813 - 16381832;20733160 100616162 ABBA01062990;AL592546;AMYH01003081;NR_039703 APPROVED miscrna 41761 PROVISIONAL 5133933 MIR4484 microRNA 4484 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 127508309 127508391 + 16381832;20733160 100616327 ABBA01034170;AL360176;AMYH01003163;NR_039704 APPROVED miscrna ENSG00000265092 41799 PROVISIONAL 5133959 MIR4485 microRNA 4485 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 10529817 10529873 - 16381832;20733160 100616263 AC021914;AMYH01003390;NR_039705 APPROVED miscrna 41628 PROVISIONAL 5134011 MIR4486 microRNA 4486 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 19596857 19596919 + 16381832;20733160 100616118 ABBA01061036;AC023950;AMYH01003432;NG_030347;NR_039706 APPROVED miscrna 41566 VALIDATED 5134003 MIR4480 microRNA 4480 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 12620752 12620822 + 16381832;20733160 100616151 ABBA01034644;AL731559;AMYH01002035;NR_039700 APPROVED miscrna 41716 PROVISIONAL 5133870 MIR4489 microRNA 4489 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 65416663 65416724 + 16381832;20733160;21199797 100616284 ABBA01024108;AMYH01003723;AP001362;NR_039709 APPROVED miscrna 41685 PROVISIONAL 5133987 MIR4490 microRNA 4490 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 90288942 90289025 - 16381832;20733160 100616186 ABBA01040069;AMYH01003939;AP000684;NR_039711 APPROVED miscrna ENSG00000266703 41871 PROVISIONAL 5133978 MIR4487 microRNA 4487 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 47422521 47422593 + 16381832;20733160 100616222 AC090559;AMYH01003541;NR_039707 APPROVED miscrna ENSG00000264583 41851 PROVISIONAL 5133885 MIR4488 microRNA 4488 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 61276068 61276129 + 16381832;20733160 100616470 AMYH01003678;AP003108;NR_039708 APPROVED miscrna ENSG00000266006 41599 PROVISIONAL 5133929 MIR4491 microRNA 4491 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 111218482 111218549 + 16381832;20733160 100616330 ABBA01039823;AMYH01004029;AP002451;NR_039712 APPROVED miscrna ENSG00000264032 41808 PROVISIONAL 5133917 MIR4492 microRNA 4492 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 118781417 118781496 + 16381832;20733160 100616376 ABBA01039689;AMYH01004077;AP004609;NR_039713 APPROVED miscrna ENSG00000264211 41563 PROVISIONAL 5133887 MIR4494 microRNA 4494 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 47757969 47758052 - 16381832;20733160 100616478 ABBA01031464;AC008083;AMYH01004426;NR_039715 APPROVED miscrna ENSG00000264906 41731 PROVISIONAL 5133950 MIR4495 microRNA 4495 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 98332834 98332899 - 16381832;20733160 100616287 ABBA01053295;AC018474;AMYH01004687;NR_039716 APPROVED miscrna ENSG00000265861 41693 PROVISIONAL 5133964 MIR4496 microRNA 4496 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 109029586 109029646 + 16381832;20733160 100616240 ABBA01053130;AC007569;AMYH01004732;NR_039717 APPROVED miscrna 41569 PROVISIONAL 5133942 MIR4499 microRNA 4499 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 21007917 21007985 - 16381832;20733160 100616304 ABBA01068582;AL161715;AMYH01004947;NR_039721 APPROVED miscrna 41739 PROVISIONAL 5133991 MIR4498 microRNA 4498 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 120593238 120593303 - 16381832;20733160 100616179 ABBA01020096;AC004812;AMYH01004798;NR_039719 APPROVED miscrna 41838 PROVISIONAL 5133895 MIR4497 microRNA 4497 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 110271153 110271241 + 16381832;20733160 100616454 ABBA01005080;AC007834;AMYH01004738;NR_039718 APPROVED miscrna ENSG00000263510 41737 PROVISIONAL 1603133 MIR449B microRNA 449b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q11.2 51419320 51419416 - 54502230 54502326 - 54466474 54466570 - 16381832;16505370;17604727;19144710;19960022;21321636 693123 ABBA01015737;AC091977;AMYH01015088;NR_030387 MIRN449B APPROVED miscrna 32794 613132 PROVISIONAL 5133935 MIR4493 microRNA 4493 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 123252148 123252220 - 16381832;20733160 100616319 ABBA01031273;AMYH01004100;AP000783;NR_039714 APPROVED miscrna ENSG00000265357 41778 PROVISIONAL 1605754 MIR449A microRNA 449a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q11.2 51419206 51419296 - 54502116 54502206 - 54466360 54466450 - 6480464 19252524;20948989;19960022;20356416;15735639;16381832;17604727;21418558;21602795;21857154;22194996;22266187;23226395;23298640;22769578 554213 ABBA01015737;AC091977;AMYH01015088;NR_029960 MIRN449;MIRN449A;hsa-mir-449 APPROVED miscrna 27645 613131 PROVISIONAL 5133988 MIR4500 microRNA 4500 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 q31.2 88270920 88270995 - 16381832;20733160 100616182 ABBA01027275;AL355578;AMYH01005271;NR_039722 APPROVED miscrna ENSG00000266052 41853 PROVISIONAL 3476300 MIR449C microRNA 449c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 51420936 51421027 - 54468090 54468181 - 16381832;16954537;19390579 100313923 ABBA01015737;AC091977;AMYH01015088;NR_031572 APPROVED miscrna 37302 PROVISIONAL 7247401 MIR4435-1HG MIR4435-1 host gene (non-protein coding) 12477932;16344560;19531736 541471 ABBA01184312;AC017002;AC068491;AC122940;AMYH01010935;AMYH01010936;AMYH01010937;AMYH01010938;AMYH01010939;BC014776;BC070200;BC070201;BM987851;BU194036;BX647931;DA316588;NR_015395;NR_024373 Hs.560805;Hs.562920 AGD2;LINC00978 miscrna ENSG00000172965 35163 VALIDATED 5134007 MIR4501 microRNA 4501 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 97079483 97079546 + 16381832;20733160 100616137 ABBA01027171;AL139087;AMYH01005311;NR_039723 APPROVED miscrna 41650 PROVISIONAL 5133970 MIR4502 microRNA 4502 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 115039303 115039383 + 16381832;20733160 100616227 ABBA01006266;AL160396;AMYH01005417;NR_039724 APPROVED miscrna ENSG00000265450 41534 PROVISIONAL 5133945 MIR4503 microRNA 4503 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 37421514 37421596 - 16381832;20733160 100616280 ABBA01061528;AL121775;AMYH01005676;NR_039725 APPROVED miscrna 41675 PROVISIONAL 5133957 MIR4504 microRNA 4504 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 50766573 50766664 - 16381832;20733160 100616261 ABBA01018131;AL359397;AMYH01005723;NR_039726 APPROVED miscrna 41624 PROVISIONAL 5133997 MIR4505 microRNA 4505 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 74225450 74225522 + 16381832;20733160 100616158 ABBA01030746;AC006146;AMYH01005846;NR_039727 APPROVED miscrna ENSG00000264741 41743 PROVISIONAL 5134009 MIR4506 microRNA 4506 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 94414572 94414648 - 16381832;20733160 100616140 ABBA01030427;AL079302;AMYH01005968;NR_039728 APPROVED miscrna 41663 PROVISIONAL 5133955 MIR4508 microRNA 4508 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 23807209 23807278 - 16381832;20733160 100616275 ABBA01048679;AC126407;AMYH01006477;NR_039731 APPROVED miscrna ENSG00000265673 41659 PROVISIONAL 5483522 MIR4500HG MIR4500 host gene (non-protein coding) 13 q31.2 88096242 88323218 - 11181995;11991713;11329013 642345 ABBA01027272;ABBA01027273;ABBA01027274;ABBA01027275;ABBA01027276;ABBA01027277;ABBA01027278;AF339814;AL355578;AL359472;AL360267;AL603883;AMYH01005270;AMYH01005271;BG215598;NR_033829 Hs.508337 1696360;1738383;2170783;2175087;2187211 D13S657E;RH77899;SHGC-14760;SHGC-77807;WIAF-2207 miscrna ENSG00000228824 42773 VALIDATED 5133972 MIR4509-1 microRNA 4509-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 22675148 22675241 - 16381832;20733160 100616223 ABBA01111574;AC116165;AMYH01006367;NR_039732 APPROVED miscrna ENSG00000263930 41860 PROVISIONAL 5134850 MIR4507 microRNA 4507 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 106324293 106324344 - 16381832;20733160 100616135 ABBA01074084;AL122127;AMYH01006100;NR_039730 APPROVED miscrna 41642 PROVISIONAL 5133968 MIR4509-2 microRNA 4509-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 28671637 28671730 + 16381832;20733160 100616228 AC091304;AC138747;AMYH01006497;NR_039733 APPROVED miscrna ENSG00000266039 41537 PROVISIONAL 5133915 MIR4509-3 microRNA 4509-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 28735898 28735991 - 16381832;20733160 100616382 AC138749;AMYH01006497;NR_039734 APPROVED miscrna ENSG00000263964 41610 PROVISIONAL 5133949 MIR4510 microRNA 4510 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 36219057 36219124 + 16381832;20733160 100616293 ABBA01038500;AC100828;AMYH01006544;NR_039735 APPROVED miscrna ENSG00000265098 41708 PROVISIONAL 1605753 MIR450A1 microRNA 450a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134061199 134061289 - 133502036 133502126 - 133674371 133674461 - 6480464 15735639;15965474;16274478;16381832;17604727 554214 ABBA01042454;AC004383;AMYH01022993;NR_029962 MIRN450;MIRN450-1;MIRN450A-1;MIRN450A1;hsa-mir-450 APPROVED miscrna ENSG00000199132 28008 PROVISIONAL 2290251 MIR450B microRNA 450b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134061043 134061120 - 133501880 133501957 - 133674215 133674292 - 16381832;17604727 100126302 ABBA01042454;AC004383;AMYH01022993;NR_030587 MIRN450B APPROVED miscrna ENSG00000216001 33642 PROVISIONAL 1603436 MIR450A2 microRNA 450a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134061366 134061465 - 133502203 133502302 - 133674538 133674637 - 15735639;15965474;16274478;16381832;17604727 574505 ABBA01042454;AC004383;AMYH01022993;NR_030227 MIRN450-2;MIRN450A-2;MIRN450A2 APPROVED miscrna ENSG00000207755 32137 PROVISIONAL 5134002 MIR4512 microRNA 4512 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 66789296 66789372 - 16381832;20733160 100616149 ABBA01038819;AC116913;AMYH01006723;NR_039737 APPROVED miscrna 41701 PROVISIONAL 5133989 MIR4513 microRNA 4513 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 75081013 75081098 - 16381832;20733160 100616183 ABBA01060502;AC091230;AMYH01006794;NR_039738 APPROVED miscrna ENSG00000264386 41855 PROVISIONAL 5133990 MIR4514 microRNA 4514 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 81289758 81289814 - 16381832;20733160 100616181 ABBA01060633;AC068870;AMYH01006852;NR_039739 APPROVED miscrna ENSG00000265855 41845 PROVISIONAL 5133908 MIR4515 microRNA 4515 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 83736087 83736167 + 16381832;20733160 100616404 ABBA01029434;AC024270;AMYH01006858;NR_039740 APPROVED miscrna ENSG00000263643 41800 PROVISIONAL 5133961 MIR4516 microRNA 4516 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2183120 2183205 + 16381832;20733160 100616258 ABBA01030274;AC009065;AMYH01007051;NR_039741 APPROVED miscrna ENSG00000265867 41617 PROVISIONAL 5133909 MIR4518 microRNA 4518 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 30515240 30515322 + 16381832;20733160 100616405 ABBA01042032;AC116348;AMYH01007497;NR_039743 APPROVED miscrna 41809 PROVISIONAL 5133882 MIR4517 microRNA 4517 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 28969904 28969982 + 16381832;20733160 100616487 ABBA01045681;AC109460;AMYH01007480;NR_039742 APPROVED miscrna 41878 PROVISIONAL 5133918 MIR4511 microRNA 4511 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 66011584 66011670 - 21785231;16381832;20733160 100616379 ABBA01038843;AC011939;AMYH01006719;NR_039736 APPROVED miscrna 41589 PROVISIONAL 5133966 MIR4519 microRNA 4519 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 30886587 30886644 - 16381832;20733160 100616231 ABBA01042066;AC135048;AMYH01007499;NR_039744 APPROVED miscrna ENSG00000265991 41544 PROVISIONAL 5134128 MIR451B microRNA 451b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 27188389 27188456 + 16381832;21199797 100616273 ABBA01015038;AC024267;AMYH01008285;NR_039876 APPROVED miscrna 41655 PROVISIONAL 5133865 MIR4520A microRNA 4520a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 6558759 6558828 - 16381832;20733160;21199797 100616401 AC004706;AMYH01008061;NR_039745 APPROVED miscrna ENSG00000264468 41775 PROVISIONAL 1603788 MIR451A microRNA 451a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q11.2 24212512 24212583 - 27188387 27188458 - 6480464 21358675;21511335;22440013;19318487;18645025;18619946;18303114;17964546;15891114;16274478;16381832;17604727;20218812;20075508;20227367;20461517;20699384;20816946;23053883;21464222;21875770;22046085;22179124;21948564;23146892 574411 ABBA01015038;AC024267;AMYH01008285;NR_029970 MIR451;MIRN451;hsa-mir-451;hsa-mir-451a APPROVED miscrna ENSG00000207794 32053 612071 PROVISIONAL 5134026 MIR4520B microRNA 4520b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 6558768 6558821 + 16381832;21199797 100616466 AC004706;AMYH01008061;NR_039874 APPROVED miscrna 41839 PROVISIONAL 5133954 MIR4522 microRNA 4522 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 25620936 25621022 - 16381832;20733160 100616277 ABBA01015072;AC026254;AMYH01008275;NR_039748 APPROVED miscrna ENSG00000263583;ENSG00000264865 41668 PROVISIONAL 5133903 MIR4521 microRNA 4521 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 8090263 8090322 + 16381832;20733160 100616406 ABBA01054901;AC129492;AMYH01008088;NR_039746 APPROVED miscrna 41813 PROVISIONAL 1603787 MIR452 microRNA 452 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151373691 151373775 - 150878755 150878839 - 151128100 151128184 - 6480464 19127597;15891114;15965474;16274478;16381832;17604727;17616659 574412 ABBA01037272;AF274855;AMYH01023229;AY785920;AY882269;NR_029973 MIRN452;hsa-mir-452 APPROVED miscrna 32054 PROVISIONAL 5134012 MIR4523 microRNA 4523 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 27717680 27717748 + 16381832;20733160 100616122 AC068025;NR_039749 APPROVED miscrna ENSG00000263719 41583 PROVISIONAL 5133866 MIR4524A microRNA 4524a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 67095705 67095773 - 21911355;16381832;20733160;21199797 100616316 ABBA01028950;AC005495;AMYH01008594;NR_039750 MIR4524;hsa-mir-4524a APPROVED miscrna 41771 PROVISIONAL 1603789 MIR453 microRNA 453 14 q32.31 100592279 100592358 + 6480464 574410 AL132709;NR_029969 MIRN453;hsa-mir-453 miscrna 32052 5133873 MIR4526 microRNA 4526 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 13611113 13611199 + 16381832;20733160;21199797 100616130 ABBA01074042;AMYH01008846;AP001010;NR_039752 APPROVED miscrna 41618 PROVISIONAL 5133981 MIR4525 microRNA 4525 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 80626109 80626183 - 16381832;20733160 100616196 ABBA01019694;AC024361;AMYH01008738;NR_039751 APPROVED miscrna 41903 PROVISIONAL 5133952 MIR4527 microRNA 4527 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 44906867 44906936 + 16381832;20733160 100616264 ABBA01018619;AC091020;AMYH01008975;NR_039753 APPROVED miscrna ENSG00000266582 41633 PROVISIONAL 5133868 MIR4529 microRNA 4529 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 53146452 53146529 + 16381832;20733160;21199797 100616290 ABBA01056115;AC018994;AC090684;AMYH01009017;NR_039754 APPROVED miscrna ENSG00000264571 41703 PROVISIONAL 6483866 MIR4524B microRNA 4524b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 67095683 67095797 + 16381832;21895886 100847008 ABBA01028950;AC005495;AMYH01008594;NR_049834 miscrna ENSG00000265331 43520 PROVISIONAL 5133922 MIR4531 microRNA 4531 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 45156956 45157002 - 16381832;20733160 100616355 ABBA01040880;AC068948;AMYH01009842;NR_039756 APPROVED miscrna 41872 PROVISIONAL 5133926 MIR4532 microRNA 4532 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 56470450 56470500 + 16381832;20733160 100616353 ABBA01052933;AL162291;AMYH01012015;NR_039757 APPROVED miscrna ENSG00000263453 41869 PROVISIONAL 5133999 MIR4530 microRNA 4530 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 39900263 39900318 - 16381832;20733160 100616163 ABBA01040729;AC011500;AMYH01009794;NR_039755 APPROVED miscrna ENSG00000266559 41764 PROVISIONAL 7248490 MIR4458HG MIR4458 host gene (non-protein coding) 12477932;14702039 100505738 ABBA01020583;AC091965;AK095145;AMYH01014895;BC038766;BX648541;NR_039989 Hs.42197 miscrna 49008 VALIDATED 5134001 MIR4534 microRNA 4534 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 38384801 38384860 + 16381832;20733160 100616146 ABBA01055498;AL031587;AMYH01012758;NR_039759 APPROVED miscrna ENSG00000264505 41692 PROVISIONAL 5133919 MIR4533 microRNA 4533 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 59053169 59053239 + 16381832;20733160 100616362 ABBA01005950;AL136143;AMYH01012031;NR_039758 APPROVED miscrna ENSG00000266140 41886 PROVISIONAL 5133905 MIR4535 microRNA 4535 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 49176107 49176165 + 16381832;20733160 100616415 ABBA01031358;AMYH01012877;NR_039761;Z83855 APPROVED miscrna ENSG00000266887 41629 PROVISIONAL 5134000 MIR4536-1 microRNA 4536-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 55477893 55477953 + 16381832;20733160;21911355 100616155 ABBA01069526;AL590410;AMYH01022437;NR_039764 MIR4536;hsa-mir-4536-1 APPROVED miscrna 41730 PROVISIONAL 5133947 MIR4540 microRNA 4540 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 36864251 36864305 - 16381832;20733160 100616278 ABBA01050410;AL450267;AMYH01019352;NR_039766 APPROVED miscrna 41670 PROVISIONAL 5134041 MIR4632 microRNA 4632 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 12251762 12251839 + 16381832;21199797 100616438 ABBA01003075;AL357835;NG_029791;NR_039775 APPROVED miscrna 41593 PROVISIONAL 5134176 MIR4633 microRNA 4633 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 128433381 128433459 + 16381832;21199797 100616175 AC008679;AMYH01015605;NR_039776 APPROVED miscrna 41822 PROVISIONAL 5134166 MIR4634 microRNA 4634 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 174178737 174178790 + 16381832;21199797 100616202 ABBA01044004;AC117531;AMYH01015833;NR_039777 APPROVED miscrna ENSG00000266890 41559 PROVISIONAL 5134103 MIR4636 microRNA 4636 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 9053928 9054007 - 16381832;21199797 100616326 ABBA01020588;AC027336;AMYH01014898;NR_039779 APPROVED miscrna 41798 PROVISIONAL 5134022 MIR4635 microRNA 4635 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 1063011 1063089 - 16381832;21199797 100616479 ABBA01034218;AC116351;AMYH01014850;NR_039778 APPROVED miscrna 41748 PROVISIONAL 1604864 MIR455 microRNA 455 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q32 87619629 87619724 + 116011534 116011629 + 116971714 116971809 + 6480464 15652478;16381832;17604727;17616659 619556 ABBA01042676;AL445543;AMYH01021673;NR_030255 MIRN455;hsa-mir-455 APPROVED miscrna 32344 PROVISIONAL 2290264 MIR454 microRNA 454 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q22 53678019 53678133 - 54569900 54570014 - 57215119 57215233 - 6480464 16381832;16954537;17604727 768216 ABBA01041362;AC099850;AMYH01008517;NR_030411 MIRN454;hsa-mir-454 APPROVED miscrna 33137 PROVISIONAL 5134132 MIR4637 microRNA 4637 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 14826038 14826121 - 21606961;16381832;21199797 100616271 ABBA01020640;AC025456;AMYH01014923;NR_039780 APPROVED miscrna 41651 PROVISIONAL 5134149 MIR4640 microRNA 4640 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 30858660 30858749 + 16381832;21199797 100616237 ABBA01038067;AL662854;AL662870;AL773589;AMYH01016207;BX927194;CR759747;CR942271;NR_039783 APPROVED miscrna 41561 PROVISIONAL 5134094 MIR4638 microRNA 4638 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 180649566 180649633 - 16381832;21199797 100616342 ABBA01010096;AC008443;AMYH01015977;NG_030346;NR_039781 APPROVED miscrna ENSG00000264732 41841 VALIDATED 5134165 MIR4641 microRNA 4641 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 41566461 41566526 + 16381832;21199797 100616178 ABBA01050753;AL139331;AMYH01016296;NR_039784 APPROVED miscrna 41835 PROVISIONAL 5134130 MIR4639 microRNA 4639 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 16141787 16141855 + 16381832;21199797 100616269 ABBA01022180;AL021407;AMYH01016111;NR_039782 APPROVED miscrna 41645 PROVISIONAL 5134085 MIR4642 microRNA 4642 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 44403378 44403459 + 16381832;21199797 100616352 ABBA01050639;AL133262;AMYH01016324;NR_039785 APPROVED miscrna 41865 PROVISIONAL 5134173 MIR4643 microRNA 4643 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 92231378 92231455 + 16381832;21199797 100616174 ABBA01040566;AL512600;AMYH01016510;NR_039786 APPROVED miscrna ENSG00000263734 41814 PROVISIONAL 5134119 MIR4645 microRNA 4645 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 2854265 2854341 - 16381832;21199797 100616285 ABBA01048626;AL139092;AMYH01016026;NR_039788 APPROVED miscrna ENSG00000266750 41689 PROVISIONAL 5134148 MIR4646 microRNA 4646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 31668806 31668868 - 16381832;21199797 100616230 ABBA01038084;AL662899;AL670886;AL805934;AMYH01016217;BX248244;CR354443;CR753842;CR759787;NR_039789 APPROVED miscrna 41543 PROVISIONAL 5134093 MIR4649 microRNA 4649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 44150448 44150511 + 16381832;21199797 100616346 AACC02000110;ABBA01058215;AC006454;AMYH01017209;CH236960;NR_039792 APPROVED miscrna 41852 PROVISIONAL 5134110 MIR4650-1 microRNA 4650-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 q11.21 66579309 66579384 - 16381832;21199797 100616310 ABBA01048952;AC073089;AMYH01017493;NG_033069;NR_039793 APPROVED miscrna ENSG00000266525 41755 PROVISIONAL 5134104 MIR4650-2 microRNA 4650-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 q11.22 72162874 72162949 + 16381832;21199797 100616331 ABBA01063985;AC091738;AMYH01017531;NR_039794 APPROVED miscrna ENSG00000264494 41810 PROVISIONAL 5134129 MIR4651 microRNA 4651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 75544515 75544587 + 16381832;21199797 100616270 ABBA01005894;AC005067;AMYH01017557;NR_039795 APPROVED miscrna ENSG00000265020 41647 PROVISIONAL 5134199 MIR4648 microRNA 4648 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 2566708 2566786 + 16381832;21199797 100616116 AACC02000053;ABBA01039378;AC092488;AMYH01016974;CH236953;NG_008109;NR_039791 APPROVED miscrna 41560 PROVISIONAL 5134163 MIR4652 microRNA 4652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 93346240 93346317 + 21558790;21911355;16381832;21199797 100616206 AACC02000014;ABBA01045789;AC002075;AMYH01017692;CH236949;NR_039796 APPROVED miscrna ENSG00000265423 41615 PROVISIONAL 5134198 MIR4653 microRNA 4653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 100802754 100802836 + 16381832;21199797 100616117 ABBA01011349;AC004876;AMYH01017750;NG_033082;NR_039797 APPROVED miscrna 41562 PROVISIONAL 5134039 MIR4644 microRNA 4644 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 170639849 170639932 + 16381832;21199797 100616430 ABBA01030856;AL078605;AMYH01016887;NR_039787 APPROVED miscrna 41687 PROVISIONAL 5134068 MIR4654 microRNA 4654 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 162126897 162126972 + 16381832;21199797 100616386 ABBA01047309;AL450163;AMYH01001463;NR_039798 APPROVED miscrna 41643 PROVISIONAL 5134205 MIR4647 microRNA 4647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 44221943 44222022 - 16381832;21199797 100616124 ABBA01050642;AL139392;AMYH01016321;NR_039790 APPROVED miscrna ENSG00000265700 41594 PROVISIONAL 5134179 MIR4655 microRNA 4655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 1883816 1883889 - 16381832;21199797 100616160 AACC02000053;ABBA01039356;AC104129;AMYH01016967;CH236953;NR_039799 APPROVED miscrna 41754 PROVISIONAL 5134037 MIR4656 microRNA 4656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 4828196 4828270 - 16381832;21199797 100616465 ABBA01039430;AC092610;AMYH01016990;NR_039800 APPROVED miscrna ENSG00000264474 41749 PROVISIONAL 5134089 MIR4659A microRNA 4659a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 6602685 6602765 + 16381832;21199797 100616348 ABBA01007056;AF287957;AMYH01018300;NR_039803 APPROVED miscrna 41857 PROVISIONAL 5134033 MIR4658 microRNA 4658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 99754228 99754292 - 16381832;21199797 100616439 AACC02000084;ABBA01013232;AC073842;AMYH01017728;CH236956;NR_039802 APPROVED miscrna 41673 PROVISIONAL 5134092 MIR4660 microRNA 4660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8905955 8906028 + 16381832;21199797;23049088 100616350 ABBA01026910;AC087579;AMYH01018465;NR_039804 APPROVED miscrna ENSG00000263407 41861 PROVISIONAL 5134063 MIR4657 microRNA 4657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 44921347 44921399 - 16381832;21199797 100616393 AACC02000110;ABBA01058239;AC004854;AMYH01017219;CH236960;NR_039801 APPROVED miscrna ENSG00000264326 41706 PROVISIONAL 5134143 MIR4661 microRNA 4661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 92217713 92217787 + 21199797;16381832 100616245 ABBA01037417;AC104966;AMYH01018876;NR_039805 APPROVED miscrna 41582 PROVISIONAL 5134071 MIR4659B microRNA 4659b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 6602689 6602761 - 16381832;21199797 100616372 ABBA01007056;AF287957;AMYH01018300;NR_039807 APPROVED miscrna 41530 PROVISIONAL 5134150 MIR4662A microRNA 4662a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 125834227 125834293 + 21911355;16381832;21199797 100616221 ABBA01037904;AC100858;AMYH01019009;NR_039806 APPROVED miscrna 41826 PROVISIONAL 5134137 MIR4662B microRNA 4662b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 125834220 125834300 - 16381832;21199797 100616255 ABBA01037904;AC100858;AMYH01019009;NR_039809 APPROVED miscrna ENSG00000263735 41607 PROVISIONAL 5134106 MIR4664 microRNA 4664 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 144815253 144815323 - 16381832;21199797 100616318 ABBA01005242;AC105219;AMYH01019113;NR_039810 APPROVED miscrna ENSG00000265660 41777 PROVISIONAL 5134136 MIR4663 microRNA 4663 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 124228028 124228103 - 16381832;21199797 100616260 ABBA01037869;AC068228;AMYH01019003;NR_039808 APPROVED miscrna ENSG00000266324 41623 PROVISIONAL 5134151 MIR4669 microRNA 4669 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 137271257 137271318 + 16381832;21199797 100616236 ABBA01017194;AC156789;AMYH01021825;NR_039816 APPROVED miscrna 41558 PROVISIONAL 5134156 MIR4667 microRNA 4667 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 35608091 35608156 + 16381832;21199797 100616214 ABBA01064989;AL357874;AMYH01019347;NR_039813 APPROVED miscrna 41723 PROVISIONAL 5134091 MIR4670 microRNA 4670 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 95290266 95290340 - 16381832;21199797 100616351 AL157827;AMYH01021508;NR_039817 APPROVED miscrna ENSG00000264158 41862 PROVISIONAL 5134124 MIR4665 microRNA 4665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 6007826 6007904 + 16381832;21199797 100616288 ABBA01065405;AL162384;NR_039811 APPROVED miscrna ENSG00000263575 41696 PROVISIONAL 5134069 MIR4671 microRNA 4671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 234442213 234442285 + 16381832;21199797 100616380 ABBA01033094;AL122008;AMYH01001831;NR_039818 APPROVED miscrna 41598 PROVISIONAL 5134202 MIR4668 microRNA 4668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 114694380 114694449 + 16381832;21199797 100616114 ABBA01042720;AL442066;AMYH01021644;NR_039814 APPROVED miscrna 41545 PROVISIONAL 5134108 MIR4666A microRNA 4666a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 228649775 228649853 + 16381832;21199797 100616308 AL139288;AMYH01001794;NR_039812 MIR4666;hsa-mir-4666a APPROVED miscrna ENSG00000266174 41750 PROVISIONAL 6483905 MIR4666B microRNA 4666b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 29592395 29592475 + 16381832;21980368 100847047 ABBA01072846;AC129852;AMYH01022183;NR_049877 miscrna 43486 PROVISIONAL 5134145 MIR4673 microRNA 4673 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 139414020 139414078 - 16381832;21199797 100616242 ABBA01022710;AL592301;AMYH01021865;NR_039820 APPROVED miscrna 41574 PROVISIONAL 5134045 MIR4672 microRNA 4672 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 130631694 130631774 - 16381832;21199797 100616429 ABBA01043850;AL157935;AMYH01021736;NR_039819 APPROVED miscrna 41662 PROVISIONAL 5134113 MIR4674 microRNA 4674 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 139440625 139440711 - 16381832;21199797 100616301 AL354671;AMYH01021865;NR_039821 APPROVED miscrna ENSG00000265181 41729 PROVISIONAL 5134123 MIR4676 microRNA 4676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 74480787 74480858 + 16381832;21199797 100616286 ABBA01020348;AC016542;AMYH01002824;NR_039823 APPROVED miscrna 41691 PROVISIONAL 5134067 MIR4675 microRNA 4675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 20840899 20840975 + 16381832;21199797 100616383 ABBA01034507;AL590032;AMYH01002166;NR_039822 APPROVED miscrna ENSG00000265372 41619 PROVISIONAL 5134116 MIR4678 microRNA 4678 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 89263638 89263711 + 16381832;21199797 100616296 ABBA01021967;AL355334;AMYH01002931;NR_039825 APPROVED miscrna 41717 PROVISIONAL 5134090 MIR4677 microRNA 4677 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 243509478 243509557 + 21911355;16381832;21199797 100616343 ABBA01047216;AC092806;AMYH01001884;NR_039824 APPROVED miscrna 41844 PROVISIONAL 5134169 MIR4679-2 microRNA 4679-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 90823092 90823168 - 16381832;21199797 100616192 AL391318;AMYH01002934;NR_039827 APPROVED miscrna ENSG00000265375 41890 PROVISIONAL 5134195 MIR4679-1 microRNA 4679-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 90823093 90823167 + 16381832;21199797 100616128 AL391318;AMYH01002934;NR_039826 APPROVED miscrna 41612 PROVISIONAL 5134204 MIR4680 microRNA 4680 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 112657848 112657913 + 16381832;21199797 100616113 ABBA01063020;AL158163;AMYH01003064;NR_039828 APPROVED miscrna ENSG00000265827 41541 PROVISIONAL 5134851 MIR4683 microRNA 4683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 35930100 35930180 - 16381832;21199797 100616500 ABBA01033331;AL121749;AMYH01002242;NG_029968;NR_039831 APPROVED miscrna 41883 VALIDATED 5134064 MIR4684 microRNA 4684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 23046010 23046091 + 21558790;16381832;21199797 100616391 ABBA01059854;AL611946;AMYH01000353;NR_039832 APPROVED miscrna 41695 PROVISIONAL 5134201 MIR4686 microRNA 4686 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 2194293 2194368 + 16381832;21199797 100616126 ABBA01032100;AC132217;AMYH01003319;NR_039834 APPROVED miscrna ENSG00000265258 41601 PROVISIONAL 5134021 MIR4685 microRNA 4685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 100191049 100191117 - 16381832;21199797 100616482 ABBA01021778;AL139243;AMYH01002983;NR_039833 APPROVED miscrna 41802 PROVISIONAL 5134105 MIR4682 microRNA 4682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 121718025 121718104 + 16381832;21199797 100616322 ABBA01062880;AC027672;AMYH01003120;NR_039830 APPROVED miscrna ENSG00000265370 41788 PROVISIONAL 5134035 MIR4687 microRNA 4687 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 3877292 3877371 + 16381832;21199797 100616453 ABBA01032047;AC090804;AMYH01003348;NR_039835 APPROVED miscrna ENSG00000263421 41712 PROVISIONAL 5134061 MIR4681 microRNA 4681 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 121137484 121137555 + 16381832;21199797 100616398 ABBA01062899;AL583824;AMYH01003113;NR_039829 APPROVED miscrna 41753 PROVISIONAL 5134049 MIR4689 microRNA 4689 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 5922732 5922801 - 16381832;21199797 100616421 ABBA01035430;AL356693;AMYH01000206;NR_039838 APPROVED miscrna ENSG00000264101 41895 PROVISIONAL 5134078 MIR4688 microRNA 4688 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 46397952 46398034 + 16381832;21199797 100616368 ABBA01060748;AC116021;AMYH01003534;NR_039837 APPROVED miscrna 41897 PROVISIONAL 5134120 MIR4690 microRNA 4690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 65403781 65403840 + 16381832;21199797 100616292 ABBA01024108;AMYH01003723;AP001362;NR_039839 APPROVED miscrna 41707 PROVISIONAL 5134029 MIR4693 microRNA 4693 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 103720634 103720708 + 16381832;21199797 100616457 ABBA01039922;AMYH01003996;AP002989;NR_039842 APPROVED miscrna ENSG00000264200 41818 PROVISIONAL 5134196 MIR4695 microRNA 4695 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 19209696 19209769 - 16381832;21199797 100616120 ABBA01059748;AL954340;AMYH01000310;NR_039844 APPROVED miscrna 41573 PROVISIONAL 5134059 MIR4696 microRNA 4696 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 74431313 74431382 - 16381832;21199797 100616402 ABBA01017480;AMYH01003813;AP001324;NR_039845 APPROVED miscrna 41780 PROVISIONAL 5134854 MIR4697 microRNA 4697 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 q25 133768399 133768476 - 16381832;21199797 100616119 ABBA01031107;AMYH01004144;AP001979;NR_039846 APPROVED miscrna ENSG00000264919 41570 PROVISIONAL 5134044 MIR4694 microRNA 4694 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 19781550 19781629 - 16381832;21199797 100616426 ABBA01061035;AC009549;AMYH01003432;NG_030347;NR_039843 APPROVED miscrna ENSG00000264309 41586 VALIDATED 5134019 MIR4698 microRNA 4698 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 47581595 47581674 + 16381832;21199797 100616486 ABBA01031463;AC008083;AMYH01004426;NR_039847 APPROVED miscrna ENSG00000263838 41867 PROVISIONAL 5134193 MIR4699 microRNA 4699 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 81552167 81552240 + 21558790;16381832;21199797 100616133 AC134506;AMYH01004614;NR_039848 APPROVED miscrna 41636 PROVISIONAL 5134055 MIR4691 microRNA 4691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 67801364 67801448 + 16381832;21199797 100616403 ABBA01024019;AMYH01003754;AP002807;NR_039840 APPROVED miscrna 41796 PROVISIONAL 5134852 MIR4700 microRNA 4700 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 121160996 121161069 + 16381832;21199797;21886157 100616329 ABBA01020134;AC069234;AMYH01004804;NR_039849 APPROVED miscrna ENSG00000265455 41806 PROVISIONAL 5134053 MIR4692 microRNA 4692 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 72494575 72494637 + 16381832;21199797 100616410 ABBA01017531;AMYH01003797;AP002381;NR_039841 APPROVED miscrna ENSG00000265064 41856 PROVISIONAL 5134134 MIR4701 microRNA 4701 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 49165758 49165820 - 16381832;21199797 100616262 ABBA01031486;AC117498;AMYH01004435;NR_039850 APPROVED miscrna 41627 PROVISIONAL 5134046 MIR4703 microRNA 4703 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 52126725 52126803 + 16381832;21199797 100616423 ABBA01051050;AL354820;AMYH01005116;NR_039852 APPROVED miscrna ENSG00000266611 41817 PROVISIONAL 5134160 MIR4704 microRNA 4704 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 66792382 66792456 + 16381832;21199797 100616205 ABBA01050278;AL136145;AMYH01005184;NR_039853 APPROVED miscrna ENSG00000263561 41602 PROVISIONAL 5134018 MIR4706 microRNA 4706 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 65511406 65511487 + 16381832;21199797 100616490 ABBA01018377;AL139022;AMYH01005803;NG_029830;NR_039855 APPROVED miscrna 41576 VALIDATED 5134051 MIR4707 microRNA 4707 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 23426159 23426238 - 16381832;21199797 100616424 ABBA01061296;AL132780;AMYH01005601;NR_039856 APPROVED miscrna ENSG00000265037 41531 PROVISIONAL 5134141 MIR4705 microRNA 4705 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 102698284 102698354 - 16381832;21199797 100616239 ABBA01027078;AL512629;AMYH01005340;NR_039854 APPROVED miscrna 41567 PROVISIONAL 5134159 MIR4709 microRNA 4709 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 74946836 74946907 - 16381832;21199797 100616211 ABBA01030717;AC005479;AMYH01005856;NR_039858 APPROVED miscrna ENSG00000265649 41690 PROVISIONAL 5134170 MIR4708 microRNA 4708 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 65801835 65801901 - 16381832;21199797 100616176 AL359236;AMYH01005804;NR_039857 APPROVED miscrna ENSG00000266740 41824 PROVISIONAL 5134118 MIR4710 microRNA 4710 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 105144031 105144086 - 16381832;21199797 100616300 ABBA01002990;AL583722;AMYH01006062;NR_039860 APPROVED miscrna ENSG00000265291 41727 PROVISIONAL 5134054 MIR4711 microRNA 4711 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 60198899 60198968 - 16381832;21199797 100616409 ABBA01074648;AL954338;AMYH01000658;NG_030039;NR_039861 APPROVED miscrna ENSG00000266150 41847 VALIDATED 5134060 MIR4712 microRNA 4712 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 50652526 50652607 + 16381832;21199797 100616396 ABBA01039115;AC022087;AMYH01006636;NR_039862 APPROVED miscrna ENSG00000264109 41732 PROVISIONAL 5134081 MIR4713 microRNA 4713 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 51534387 51534461 + 21558790;16381832;21199797;22675492 100616369 AC012169;AMYH01006642;NR_039863 APPROVED miscrna ENSG00000266593 41899 PROVISIONAL 5134038 MIR4714 microRNA 4714 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 99327655 99327731 + 16381832;21199797 100616432 ABBA01020565;AC055807;AMYH01006962;NR_039864 APPROVED miscrna 41763 PROVISIONAL 5134167 MIR4718 microRNA 4718 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 12814178 12814228 + 16381832;21199797 100616195 ABBA01006855;AC109597;AMYH01007169;NR_039869 APPROVED miscrna ENSG00000264733 41900 PROVISIONAL 5134024 MIR4715 microRNA 4715 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 26093894 26093972 - 16381832;21199797 100616474 AC016266;AMYH01006486;NR_039865 APPROVED miscrna 41666 PROVISIONAL 5134101 MIR4716 microRNA 4716 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 49461267 49461350 - 16381832;21199797 100616332 ABBA01039130;AC013452;AMYH01006630;NR_039866 APPROVED miscrna ENSG00000264210 41812 PROVISIONAL 5134175 MIR4719 microRNA 4719 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 76902833 76902916 + 16381832;21199797 100616172 AC106734;AMYH01007822;NR_039870 APPROVED miscrna ENSG00000266426 41807 PROVISIONAL 5134142 MIR4717 microRNA 4717 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 2324621 2324692 + 16381832;21199797 100616241 AC009065;AMYH01007057;NR_039868 APPROVED miscrna ENSG00000264004 41571 PROVISIONAL 5134066 MIR4723 microRNA 4723 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 26687677 26687757 + 16381832;21199797 100616388 ABBA01015060;AC002094;AMYH01008277;NR_039875 APPROVED miscrna 41660 PROVISIONAL 5134178 MIR4722 microRNA 4722 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 88782686 88782745 - 16381832;21199797 100616167 ABBA01015845;AC138028;AMYH01007912;NR_039873 APPROVED miscrna 41782 PROVISIONAL 5134138 MIR4724 microRNA 4724 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 29861901 29861989 + 16381832;21199797 100616248 ABBA01014958;AC003101;AMYH01008324;NR_039877 APPROVED miscrna ENSG00000266459 41590 PROVISIONAL 5134034 MIR4725 microRNA 4725 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 29902288 29902377 + 16381832;21199797 100616449 ABBA01014956;AC003101;AMYH01008325;NR_039878 APPROVED miscrna ENSG00000265976 41608 PROVISIONAL 5134186 MIR4720 microRNA 4720 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 q23.2 81418623 81418698 + 16381832;21199797 100616150 ABBA01016966;AC092139;AMYH01007849;NR_039871 APPROVED miscrna ENSG00000265271 41705 PROVISIONAL 5134139 MIR4721 microRNA 4721 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 28855240 28855328 - 16381832;21199797 100616256 ABBA01045688;AC133550;AMYH01007478;NR_039872 APPROVED miscrna 41609 PROVISIONAL 5134189 MIR4726 microRNA 4726 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 36875944 36876001 + 16381832;21199797 100616153 ABBA01031904;AC006449;AMYH01008367;NR_039879 APPROVED miscrna 41722 PROVISIONAL 5134052 MIR4727 microRNA 4727 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 36982091 36982145 + 16381832;21199797 100616416 ABBA01031897;AC006449;AMYH01008368;NR_039880 APPROVED miscrna ENSG00000263791 41709 PROVISIONAL 5134084 MIR4730 microRNA 4730 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 78393218 78393293 + 16381832;21199797 100616359 ABBA01015400;AC120024;AMYH01008696;NR_039883 APPROVED miscrna 41880 PROVISIONAL 5134161 MIR4729 microRNA 4729 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 57443444 57443515 + 16381832;21199797 100616204 ABBA01041378;AC091059;AMYH01008518;NR_039882 APPROVED miscrna 41585 PROVISIONAL 5134192 MIR4728 microRNA 4728 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 37882748 37882814 + 16381832;21199797 100616132 ABBA01031858;AC087491;AMYH01008376;NR_039881 APPROVED miscrna 41632 PROVISIONAL 5134200 MIR4731 microRNA 4731 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 15154944 15155013 - 16381832;21199797 100616125 AC005703;AMYH01008130;NR_039884 APPROVED miscrna 41597 PROVISIONAL 5134065 MIR4732 microRNA 4732 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 27188673 27188748 - 16381832;21199797 100616385 ABBA01015038;AC024267;AMYH01008285;NR_039885 APPROVED miscrna ENSG00000265772 41639 PROVISIONAL 5134131 MIR4733 microRNA 4733 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 29421368 29421443 - 16381832;21199797 100616266 ABBA01014968;AC138207;AMYH01008320;NR_039886 APPROVED miscrna ENSG00000265444 41638 VALIDATED 5134157 MIR4736 microRNA 4736 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 56413337 56413383 - 16381832;21199797 100616220 ABBA01041334;AC004687;AMYH01008512;NR_039889 APPROVED miscrna ENSG00000264399 41804 PROVISIONAL 5134162 MIR4734 microRNA 4734 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 36858515 36858584 - 16381832;21199797 100616203 ABBA01031905;AC006449;AMYH01008366;NR_039887 APPROVED miscrna ENSG00000265930 41572 PROVISIONAL 5134080 MIR4735 microRNA 4735 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 196551543 196551611 - 16381832;21199797 100616363 ABBA01027602;AL591604;AMYH01001618;NR_039888 APPROVED miscrna 41888 PROVISIONAL 5134194 MIR4741 microRNA 4741 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 20513312 20513401 + 16381832;21199797 100616139 ABBA01022652;AC091147;AMYH01008883;NR_039895 APPROVED miscrna ENSG00000264817 41661 PROVISIONAL 5134174 MIR4739 microRNA 4739 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 77680985 77681058 - 16381832;21199797 100616170 ABBA01013832;AC105337;AC233701;AMYH01008682;NR_039893 APPROVED miscrna ENSG00000266665 41801 PROVISIONAL 5134158 MIR4737 microRNA 4737 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 58120386 58120466 - 16381832;21199797 100616210 ABBA01035419;AC005702;AMYH01008526;NR_039890 APPROVED miscrna ENSG00000264049 41669 PROVISIONAL 5134030 MIR4742 microRNA 4742 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 224585929 224586013 - 16381832;21199797 100616468 ABBA01009696;AC099790;AMYH01001767;NR_039896 APPROVED miscrna 41565 PROVISIONAL 5134126 MIR4738 microRNA 4738 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 73780602 73780688 - 16381832;21199797 100616282 ABBA01028771;AC087289;AMYH01008635;NR_039892 APPROVED miscrna ENSG00000263565 41679 PROVISIONAL 5134115 MIR4740 microRNA 4740 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 79374516 79374578 - 16381832;21199797 100616294 ABBA01032144;AC110285;AMYH01008711;NR_039894 APPROVED miscrna ENSG00000266392 41711 PROVISIONAL 5134099 MIR4747 microRNA 4747 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 4932699 4932752 + 16381832;21199797 100616337 ABBA01056031;AC027319;AMYH01009349;NG_033256;NR_039902 APPROVED miscrna 41827 VALIDATED 5134048 MIR4744 microRNA 4744 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 46576057 46576138 - 16381832;21199797 100616420 ABBA01018645;AC016866;AMYH01008985;NR_039898 APPROVED miscrna 41866 PROVISIONAL 5134032 MIR4745 microRNA 4745 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 804940 805001 + 16381832;21199797 100616459 ABBA01002596;AC006273;AMYH01009201;NR_039900 APPROVED miscrna 41868 PROVISIONAL 5134047 MIR4748 microRNA 4748 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 10890930 10891011 + 16381832;21199797 100616425 ABBA01029896;AC112707;AMYH01009479;NR_039903 APPROVED miscrna 41557 PROVISIONAL 5134082 MIR4743 microRNA 4743 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 46196971 46197039 + 16381832;21199797 100616366 ABBA01018639;AC048380;AMYH01008984;NR_039897 APPROVED miscrna 41894 PROVISIONAL 5134073 MIR4746 microRNA 4746 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 4445975 4446045 + 16381832;21199797 100616371 ABBA01056073;AC011498;AMYH01009333;NR_039901 APPROVED miscrna ENSG00000266437 41904 PROVISIONAL 5134111 MIR4749 microRNA 4749 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 50357848 50357908 + 16381832;21199797 100616313 ABBA01032908;AC018766;AMYH01009919;NR_039904 APPROVED miscrna 41760 PROVISIONAL 5134112 MIR4750 microRNA 4750 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 50391432 50391487 + 16381832;21199797 100616314 ABBA01032908;AC118342;AMYH01009919;NR_039905 APPROVED miscrna 41765 PROVISIONAL 5134020 MIR4751 microRNA 4751 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 50436321 50436394 + 16381832;21199797 100616483 ABBA01032907;AC011452;AMYH01009920;NR_039906 APPROVED miscrna 41819 PROVISIONAL 5134171 MIR4752 microRNA 4752 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 54785964 54786035 + 16381832;21199797 100616171 ABBA01068168;AC010518;AMYH01009976;CU104682;CU457734;CU467018;NR_039907 APPROVED miscrna ENSG00000264703 41803 PROVISIONAL 5134147 MIR4753 microRNA 4753 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 235353349 235353431 - 16381832;21199797 100616224 ABBA01033121;AL133418;AMYH01001843;NR_039908 APPROVED miscrna 41527 PROVISIONAL 5134040 MIR4755 microRNA 4755 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 32636925 32636996 + 21558790;16381832;21199797 100616434 ABBA01019212;AL031668;AMYH01011861;NR_039911 APPROVED miscrna ENSG00000264616 41815 PROVISIONAL 5134152 MIR4756 microRNA 4756 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 52684947 52685024 - 16381832;21199797 100616225 ABBA01052870;AL354801;AMYH01011996;NR_039913 APPROVED miscrna ENSG00000265595 41529 PROVISIONAL 5134177 MIR4754 microRNA 4754 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 58898137 58898225 - 16381832;21199797 100616168 ABBA01020771;AC012313;AMYH01010035;NR_039910 APPROVED miscrna ENSG00000266640 41786 PROVISIONAL 5134114 MIR4757 microRNA 4757 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 19548190 19548266 + 16381832;21199797 100616307 ABBA01018493;AC018741;AMYH01010148;NR_039914 APPROVED miscrna ENSG00000266738 41746 PROVISIONAL 5134096 MIR4758 microRNA 4758 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 60907543 60907613 - 16381832;21199797 100616340 ABBA01040095;AL354836;AMYH01012051;NR_039915 APPROVED miscrna 41836 PROVISIONAL 5134140 MIR4759 microRNA 4759 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 28326280 28326362 + 16381832;21199797 100616243 AMYH01012178;AP001601;NR_039916 APPROVED miscrna ENSG00000266133 41575 PROVISIONAL 5134185 MIR4760 microRNA 4760 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 41584279 41584358 - 16381832;21199797 100616148 ABBA01009318;AF064865;AMYH01012254;NR_039917 APPROVED miscrna 41698 PROVISIONAL 5134117 MIR4764 microRNA 4764 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 33832568 33832655 - 16381832;21199797 100616295 ABBA01055388;AL008715;AMYH01012732;NR_039921 APPROVED miscrna 41714 PROVISIONAL 5134057 MIR4761 microRNA 4761 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 19951276 19951357 + 16381832;21199797 100616414 ABBA01005400;AC005663;AMYH01012482;NR_039918 APPROVED miscrna 41591 PROVISIONAL 5134190 MIR4763 microRNA 4763 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 46509446 46509537 + 16381832;21199797 100616143 ABBA01010438;AL049853;AMYH01012854;NR_039920 APPROVED miscrna ENSG00000264147 41677 PROVISIONAL 5134153 MIR4765 microRNA 4765 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 32860322 32860398 + 16381832;21199797 100616219 ABBA01074895;AL133246;AMYH01010235;NR_039922 APPROVED miscrna 41791 PROVISIONAL 5134135 MIR4762 microRNA 4762 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 46156404 46156478 + 16381832;21199797 100616253 ABBA01007140;AMYH01012852;NR_039919;Z93784 APPROVED miscrna 41603 PROVISIONAL 5134121 MIR4766 microRNA 4766 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 41209887 41209962 - 16381832;21199797 100616283 ABBA01055609;AMYH01012795;NR_039923;Z98048 APPROVED miscrna 41680 PROVISIONAL 2290505 MIR4697HG MIR4697 host gene (non-protein coding) 11 11 11 q25 130940310 130945614 - 133271540 133277031 - 133766330 133771635 - 12477932 283174 Q6AWC8 ABBA01031107;AK123849;AL133591;AMYH01004144;AP001979;BC101691;BC104851;BC106032;BX641055;CH471065;NR_024344 BAC85707;CAH10550;EAW67813;Q6AWC8 Hs.504370 2182448;5493323 SHGC-53326;UniSTS:485714 LINC00947;MGC117185;MGC126740 APPROVED miscrna 27448 17328 VALIDATED 5134076 MIR4770 microRNA 4770 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 6301947 6302004 - 16381832;21199797 100616373 ABBA01044633;AC078991;AMYH01022055;NR_039927 APPROVED miscrna ENSG00000265284 41542 PROVISIONAL 5134188 MIR4769 microRNA 4769 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 47446828 47446904 + 16381832;21199797 100616147 ABBA01052382;AMYH01022264;NR_039926;Z84466 APPROVED miscrna ENSG00000263858 41694 PROVISIONAL 5134025 MIR4767 microRNA 4767 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 7065901 7065978 + 16381832;21199797 100616467 AC073583;AMYH01022057;NR_039924 APPROVED miscrna ENSG00000264268 41548 PROVISIONAL 5134075 MIR4771-1 microRNA 4771-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 87421909 87421982 + 16381832;21199797 100616370 ABBA01226448;AC083899;AMYH01010546;NR_039928 APPROVED miscrna ENSG00000264793 41901 PROVISIONAL 5134133 MIR4768 microRNA 4768 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 17444004 17444077 + 16381832;21199797 100616249 ABBA01071540;AC122692;AMYH01022117;NR_039925 APPROVED miscrna 41592 PROVISIONAL 5134181 MIR4771-2 microRNA 4771-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 112528638 112528711 - 16381832;21199797 100616165 AC093166;AMYH01010946;NR_039929 APPROVED miscrna 41774 PROVISIONAL 5134182 MIR4772 microRNA 4772 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 103048749 103048826 + 16381832;21199797 100616157 ABBA01073899;AC007278;AMYH01010821;NR_039930 APPROVED miscrna 41741 PROVISIONAL 5134058 MIR4773-1 microRNA 4773-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 152224848 152224925 + 16381832;21199797 100616392 AC009311;AMYH01011168;NR_039931 APPROVED miscrna 41699 PROVISIONAL 5134056 MIR4773-2 microRNA 4773-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 152224848 152224925 - 16381832;21199797 100616418 AC009311;AMYH01011168;NR_039932 APPROVED miscrna 41790 PROVISIONAL 5134088 MIR4774 microRNA 4774 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 q24.3 169439453 169439528 + 21606961;16381832;21199797 100616356 ABBA01004957;AC019086;AMYH01011241;NR_039933 APPROVED miscrna 41873 PROVISIONAL 5134079 MIR4775 microRNA 4775 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 208619531 208619605 + 16381832;21199797 100616361 ABBA01062689;AC096772;AMYH01011449;NR_039934 APPROVED miscrna ENSG00000264900 41885 PROVISIONAL 5134127 MIR4776-1 microRNA 4776-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 213790981 213791060 + 16381832;21199797 100616267 AC108066;AMYH01011477;NR_039935 APPROVED miscrna ENSG00000266354 41641 PROVISIONAL 5134027 MIR4776-2 microRNA 4776-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 213790981 213791060 - 16381832;21199797 100616472 AC108066;AMYH01011477;NR_039936 APPROVED miscrna 41631 PROVISIONAL 5134102 MIR4777 microRNA 4777 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 232227419 232227504 + 16381832;21199797 100616317 ABBA01002059;AC018738;AMYH01011556;NR_039937 APPROVED miscrna 41773 PROVISIONAL 5134028 MIR4778 microRNA 4778 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 66585381 66585460 - 16381832;21199797 100616464 ABBA01075458;AC092669;AMYH01010409;NR_039938 APPROVED miscrna ENSG00000264525 41648 PROVISIONAL 5134072 MIR4784 microRNA 4784 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 132248733 132248809 - 16381832;21199797 100616378 ABBA01028233;AC073869;AMYH01011102;NR_039945 APPROVED miscrna 41580 PROVISIONAL 5134107 MIR4781 microRNA 4781 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 54519752 54519827 + 16381832;21199797 100616315 AL353898;AMYH01000632;NR_039942 APPROVED miscrna ENSG00000264208 41769 PROVISIONAL 5134164 MIR4783 microRNA 4783 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 128181113 128181194 - 16381832;21199797 100616187 ABBA01040207;AC068282;AMYH01011018;NR_039944 APPROVED miscrna ENSG00000264075 41874 PROVISIONAL 5134077 MIR4785 microRNA 4785 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 161264321 161264393 - 16381832;21199797 100616364 AC104598;NR_039946 APPROVED miscrna 41889 PROVISIONAL 5134155 MIR4782 microRNA 4782 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 114478867 114478945 - 16381832;21199797 100616208 ABBA01045988;AC017074;AMYH01010968;NR_039943 APPROVED miscrna 41635 PROVISIONAL 5134036 MIR4780 microRNA 4780 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 88382038 88382118 - 16381832;21199797 100616447 ABBA01018804;AC092836;AMYH01010628;NR_039940 APPROVED miscrna ENSG00000265003 41552 PROVISIONAL 5134183 MIR4779 microRNA 4779 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 86420149 86420231 - 16381832;21199797 100616159 ABBA01075775;AC009309;AMYH01010498;NR_039939 APPROVED miscrna 41747 PROVISIONAL 5134197 MIR4787 microRNA 4787 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 50712511 50712594 + 21558790;16381832;21199797 100616138 AC096920;AMYH01013176;NR_039950 APPROVED miscrna 41653 PROVISIONAL 5134853 MIR4788 microRNA 4788 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 134156669 134156748 + 16381832;21199797 100616281 ABBA01059155;AC010207;AMYH01013514;NR_039951 APPROVED miscrna ENSG00000263554 41676 PROVISIONAL 5134097 MIR4790 microRNA 4790 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 5291862 5291940 - 16381832;21199797 100616334 AC026202;AMYH01012953;NR_039953 APPROVED miscrna ENSG00000265180 41820 PROVISIONAL 5134062 MIR4789 microRNA 4789 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 175087329 175087410 + 16381832;21199797;23319000 100616395 ABBA01058612;AC008180;AMYH01013666;NR_039952 APPROVED miscrna 41719 PROVISIONAL 5134050 MIR4786 microRNA 4786 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 240882432 240882511 - 16381832;21199797 100616417 ABBA01048858;AC114750;AMYH01011615;NR_039949 APPROVED miscrna ENSG00000264279 41751 PROVISIONAL 5134122 MIR4791 microRNA 4791 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 19356340 19356423 - 16381832;21199797 100616291 ABBA01025103;AC135452;AMYH01013012;NR_039954 APPROVED miscrna 41704 PROVISIONAL 5134031 MIR4792 microRNA 4792 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 24562853 24562926 - 16381832;21199797;22446413 100616448 ABBA01025027;AC012087;AMYH01013033;NR_039955 miR-4792 APPROVED miscrna ENSG00000265028 41577 PROVISIONAL 5134203 MIR4793 microRNA 4793 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 48681627 48681713 - 16381832;21199797 100616112 ABBA01024642;AC121252;AMYH01013152;NR_039956 APPROVED miscrna 41538 PROVISIONAL 5134095 MIR4794 microRNA 4794 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 65045530 65045606 + 16381832;21199797 100616338 ABBA01074561;AL590405;AMYH01000682;NR_039957 APPROVED miscrna 41829 PROVISIONAL 5134023 MIR4798 microRNA 4798 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 7312177 7312251 + 21558790;21911355;16381832;21199797 100616471 ABBA01012744;AC080003;AMYH01013925;NR_039961 APPROVED miscrna 41616 PROVISIONAL 5134154 MIR4797 microRNA 4797 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 197020749 197020819 - 16381832;21199797 100616216 ABBA01033765;AC092937;AMYH01013802;NR_039960 APPROVED miscrna 41758 PROVISIONAL 5134180 MIR4796 microRNA 4796 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 114462292 114462372 - 16381832;21199797 100616166 ABBA01061636;AC078986;AMYH01013400;NR_039959 APPROVED miscrna ENSG00000264623 41779 PROVISIONAL 5134146 MIR4799 microRNA 4799 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 148703746 148703819 + 16381832;21199797 100616246 ABBA01070061;AC093835;AMYH01014602;NR_039962 APPROVED miscrna 41584 PROVISIONAL 5134184 MIR4795 microRNA 4795 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 87275339 87275427 - 16381832;21199797 100616161 ABBA01004629;AC123511;AMYH01013324;NR_039958 APPROVED miscrna ENSG00000264119 41757 PROVISIONAL 5134086 MIR4800 microRNA 4800 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 2251804 2251883 - 16381832;21199797 100616358 ABBA01029517;AL158068;AMYH01013874;NR_039964 APPROVED miscrna ENSG00000265080 41877 PROVISIONAL 5134043 MIR4801 microRNA 4801 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 37243532 37243613 - 16381832;21199797 100616435 ABBA01074301;AC104690;AMYH01014111;NR_039965 APPROVED miscrna ENSG00000264319 41840 PROVISIONAL 5134125 MIR4802 microRNA 4802 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 40504057 40504136 - 21558790;16381832;21199797 100616274 ABBA01014249;AC098869;AMYH01014126;NR_039966 APPROVED miscrna ENSG00000263642 41658 PROVISIONAL 5134187 MIR4804 microRNA 4804 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 72174418 72174490 + 16381832;21199797 100616152 ABBA01061908;AC008953;AMYH01015402;NR_039968 APPROVED miscrna 41720 PROVISIONAL 5134074 MIR4803 microRNA 4803 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 71465294 71465367 + 16381832;21199797 100616377 ABBA01061901;AC093218;AMYH01015402;NR_039967 APPROVED miscrna 41568 PROVISIONAL 1606044 MIR487B microRNA 487b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81568849 81568932 + 100582544 100582627 + 101512792 101512875 + 6480464 16274478;16381832;17604727 664616 ABBA01048514;AL132709;AMYH01006017;NR_030267 MIRN487B APPROVED miscrna ENSG00000207754 32533 615037 PROVISIONAL 1603782 MIR485 microRNA 485 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81577817 81577889 + 100591508 100591580 + 101521756 101521828 + 6480464 15965474;15978578;16381832;17604727;21252292;21083603;23593016 574436 ABBA01048514;AL132709;AMYH01006017;AY882307;AY882335;NR_030160 MIRN485;hsa-mir-485 APPROVED miscrna 32067 PROVISIONAL 1604866 MIR486 microRNA 486 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p11.21 40466482 40466549 - 41637115 41637182 - 41517959 41518026 - 6480464 19475450;15978578;16381832;17604727;21415212;21525938;22456796;22995304 619554 ABBA01021136;AC113133;AMYH01018674;NR_030161 MIRN486;hsa-mir-486 APPROVED miscrna 32342 PROVISIONAL 1604868 MIR483 microRNA 483 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p15.5 2191870 2191945 - 2111939 2112014 - 2155364 2155439 - 6480464 20388800;15978578;16381832;17604727;21112326;21893058;21676945;22850566;22908386;22223106;22719975;22465663;23431031 619552 AC132217;AMYH01003318;NR_030158 1798914;1799502;2091438;2091440;2091442;2091444;2091446;2091448;2091450;2091452;2091454;2216762;2216764 ECD00298;ECD00602;REN116999;REN117000;REN117001;REN117002;REN117003;REN117004;REN117005;REN117006;REN117007;stSG548714;stSG548715 MIRN483;hsa-mir-483 APPROVED miscrna 32340 PROVISIONAL 1603778 MIR491 microRNA 491 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.3 20654616 20654699 + 20706103 20706186 + 20716104 20716187 + 6480464 20039318;15965474;16381832;17604727;17616659;21802413;23257658 574444 ABBA01065184;AL445624;AMYH01019274;NR_030166 MIRN491;hsa-mir-491 APPROVED miscrna 32076 PROVISIONAL 1603779 MIR490 microRNA 490 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q33 131327122 131327249 + 136238453 136238580 + 136587914 136588041 + 6480464 15965474;16381832;17604727;18230126;22869791;22446413;23212913 574443 AACC02000025;ABBA01001139;AC009264;AMYH01017963;AY882316;CH236950;NG_011846;NR_030165 MIRN490;hsa-mir-490;miR-490 APPROVED miscrna ENSG00000207597 32075 PROVISIONAL 1604865 MIR487A microRNA 487a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81574844 81574923 + 100588535 100588614 + 101518783 101518862 + 15978578;16274478;16381832;17604727 619555 ABBA01048514;AL132709;AMYH01006017;NR_030162 MIRN487;MIRN487A;hsa-mir-487 APPROVED miscrna ENSG00000207558 32343 PROVISIONAL 1604867 MIR484 microRNA 484 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.11 15417628 15417706 + 15644651 15644729 + 15737151 15737229 + 6480464 15978578;16381832;17604727;17616659 619553 ABBA01048900;AC026401;AMYH01007182;NR_030159 MIRN484;hsa-mir-484 APPROVED miscrna 32341 PROVISIONAL 1603781 MIR488 microRNA 488 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q25.2 150108504 150108586 - 175265121 175265203 - 176998499 176998581 - 6480464 15965474;16381832;17604727;21168126;21710544 574441 ABBA01027859;AL022145;AMYH01001519;NR_030163 MIRN488;hsa-mir-488 APPROVED miscrna 32073 PROVISIONAL 1603780 MIR489 microRNA 489 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 87817753 87817836 - 92951183 92951266 - 93113248 93113331 - 6480464 20700123;15965474;16381832;17604727 574442 AACC02000014;ABBA01045790;AC003078;AMYH01017691;AY882328;CH236949;NR_030164 MIRN489;hsa-mir-489 APPROVED miscrna 32074 614523 PROVISIONAL 1603769 MIR495 microRNA 495 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81556148 81556229 + 100569844 100569925 + 101500092 101500173 + 6480464 15965474;16381832;17604727;21258409;23132946;22469786 574453 ABBA01048514;AL132709;AMYH01006016;NR_030175 MIRN495;hsa-mir-495 APPROVED miscrna ENSG00000207743 32085 615149 PROVISIONAL 4892506 MIR497HG mir-497-195 cluster host gene (non-protein coding) 17 17 p13.1 6944642 6948478 - 6919137 6922973 - 100506755 I3L3H1 ABBA01054845;AC040977;AMYH01008065;NR_038310 Hs.710442 miscrna ENSG00000267532 39523 VALIDATED 1603770 MIR494 microRNA 494 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81552015 81552095 + 100565723 100565803 + 101495971 101496051 + 6480464 15965474;16274478;16381832;17604727;20807887;23160513;23012423;21859890;22042971;22028919;22151897;23436935;21809359;22785131 574452 ABBA01048514;AL132709;AMYH01006016;NR_030174 MIRN494;hsa-mir-494 APPROVED miscrna ENSG00000194717 32084 PROVISIONAL 1603768 MIR496 microRNA 496 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81582971 81583072 + 100596662 100596763 + 101526910 101527011 + 6480464 15965474;16381832;17604727 574454 ABBA01048514;AL132709;AMYH01006017;NR_030176 MIRN496;hsa-mir-496 APPROVED miscrna ENSG00000207961 32086 PROVISIONAL 1603773 MIR492 microRNA 492 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q22 94899397 94899512 + 93752304 93752419 + 95228174 95228289 + 6480464 19138993;21319197;19851984;15965474;16381832;20732906;21655935 574449 ABBA01053356;AC117494;AMYH01004665;NR_030171 MIRN492;hsa-mir-492 APPROVED miscrna ENSG00000208038 32081 614384 PROVISIONAL 1603766 MIR497 microRNA 497 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p13.1 6946735 6946846 - 6861953 6862064 - 6921230 6921341 - 6480464 21350001;18677302;15965474;16381832;17604727;21878650;21258880;23453369;22710713;23531080 574456 ABBA01054845;AC040977;AMYH01008065;AY785913;NR_030178 MIRN497;hsa-mir-497 APPROVED miscrna ENSG00000207791 32088 PROVISIONAL 5134191 MIR499B microRNA 499b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 33578203 33578275 - 16381832;21199797 100616134 ABBA01019173;AL132825;AMYH01011867;NR_039912 MIR499A;hsa-mir-499b APPROVED miscrna 41640 PROVISIONAL 6483865 MIR5000 microRNA 5000 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 75317939 75318041 + 16381832;21558790;21606961 100846995 ABBA01075617;AC007400;AMYH01010456;NR_049796 miscrna ENSG00000263909 43464 PROVISIONAL 6483872 MIR5001 microRNA 5001 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 233415184 233415283 - 16381832;21558790;21911355 100847037 ABBA01002018;AC092165;AMYH01011571;NR_049797 miscrna ENSG00000266620 43462 PROVISIONAL 1603762 MIR498 microRNA 498 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51218542 51218665 + 58869262 58869385 + 54177451 54177574 + 15965474;16381832;17604727;23055531;23418466 574460 ABBA01068202;AC011453;AMYH01009964;AY882319;NR_030182 MIRN498;hsa-mir-498 APPROVED miscrna ENSG00000207869 32092 PROVISIONAL 6483906 MIR4999 microRNA 4999 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 8454174 8454264 - 16381832;21558790 100847049 ABBA01010849;AC136469;AMYH01009441;NR_049795 miscrna ENSG00000265390 43494 PROVISIONAL 1603440 MIR499A microRNA 499a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q11.22 33041839 33041960 + 33578179 33578300 + 22374132;22393998;22752967;21902575;22159951;19514064;15965474;16381832;17604727;20842445;20845080;20848167;21073609;20733065;22344502;23026916;19847796;19881472;20081117;20154144;20488170;20549817;21403094;20921333;21345130;21573063;22222140;23236400;22110643;22311030;22019503;22583825;23053947;23202363;22922391;22161766;22641068;22903035;22970328 574501 ABBA01019173;AL132825;AMYH01011867;NR_030223 MIR499;MIRN499;hsa-mir-499;hsa-mir-499a APPROVED miscrna 32133 613614 PROVISIONAL 6483892 MIR5002 microRNA 5002 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 123851776 123851872 + 16381832;21558790 100847021 ABBA01016443;AC117401;AMYH01013435;NR_049798 miscrna 43470 PROVISIONAL 1603772 MIR493 microRNA 493 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81389474 81389562 + 100405149 100405237 + 101335397 101335485 + 6480464 15965474;16274478;16381832;17604727;20960104;22057916;22373578 574450 ABBA01048518;AL117190;AMYH01006015;NR_030172 MIRN493;hsa-mir-493 APPROVED miscrna ENSG00000207989 32082 PROVISIONAL 6483895 MIR5003 microRNA 5003 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 172089168 172089266 + 16381832;21558790 100847029 ABBA01044041;AC027309;AMYH01015817;NR_049799 miscrna 43512 PROVISIONAL 6483868 MIR5006 microRNA 5006 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 42142422 42142531 - 16381832;21558790;21606961 100847026 ABBA01021264;AL354833;AMYH01005064;NR_049803 miscrna 43495 PROVISIONAL 6483891 MIR5004 microRNA 5004 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 33406108 33406214 + 16381832;21558790 100847012 ABBA01038151;AL662799;AMYH01016247;BX088650;NR_049800 miscrna 43532 PROVISIONAL 6483882 MIR5007 microRNA 5007 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 55748589 55748683 + 16381832;21558790 100846996 ABBA01037040;AL357337;AMYH01005134;NR_049804 miscrna ENSG00000264387 43468 PROVISIONAL 6483883 MIR5009 microRNA 5009 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 90427163 90427262 - 16381832;21558790 100846993 ABBA01053029;AC027176;AMYH01006919;NR_049807 miscrna 43458 PROVISIONAL 4109001 MIR500B microRNA 500b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p11.23 53844507 53844585 + 49775280 49775358 + 16381832;19784364 100422911 ABBA01063309;AC231645;AF222686;AMYH01022324;NR_036257 APPROVED miscrna 38223 PROVISIONAL 6483887 MIR5011 microRNA 5011 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 64748821 64748923 + 16381832;21558790 100847002 ABBA01056259;AC113195;AMYH01009067;NR_049809 miscrna ENSG00000263354 43496 PROVISIONAL 6483904 MIR5010 microRNA 5010 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 40666206 40666325 + 16381832;21558790 100847046 ABBA01006422;AC067852;AMYH01008394;NR_049808 miscrna 43484 PROVISIONAL 1603438 MIR501 microRNA 501 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53843557 53843640 + 49661069 49661152 + 49774330 49774413 + 6480464 15965474;16381832;17604727;23266610 574503 AC231645;AF222686;AMYH01022324;AY882271;NR_030225 MIRN501;hsa-mir-501 APPROVED miscrna 32135 PROVISIONAL 1603437 MIR502 microRNA 502 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53848433 53848518 + 49665945 49666030 + 49779206 49779291 + 6480464 15965474;16381832;17604727;19789321;22867998;22095217;22580605 574504 ABBA01063309;AC231645;AF222686;AMYH01022324;AY882317;NR_030226 MIRN502;hsa-mir-502 APPROVED miscrna 32136 300893 PROVISIONAL 1603435 MIR503 microRNA 503 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134067176 134067246 - 133508023 133508093 - 133680358 133680428 - 6480464 15965474;16274478;16381832;17604727;19538740;20462953;22429276;21220732;23352645;23263626;21495032;22072795;22890417 574506 ABBA01042455;AC004383;AMYH01022993;AY882283;NR_030228 1654449 RH18517 MIRN503;hsa-mir-503 APPROVED miscrna ENSG00000208005 32138 300865 PROVISIONAL 5133844 MIR5047 microRNA 5047 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 62497332 62497431 - 16381832;21346006 100616408 ABBA01035296;AC009994;AC234063;AMYH01008560;NR_039969 APPROVED miscrna 41834 PROVISIONAL 1603439 MIR500A microRNA 500a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53842266 53842349 + 49659778 49659861 + 49773039 49773122 + 15965474;16381832;17604727;19863192 574502 ABBA01063308;AC231645;AF222686;AMYH01022324;AY882306;NR_030224 MIR500;MIRN500;hsa-mir-500;hsa-mir-500a APPROVED miscrna 32134 PROVISIONAL 1603434 MIR504 microRNA 504 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 138115863 138115945 - 137577537 137577619 - 137749872 137749954 - 6480464 21927029;20542001;15965474;16381832;17604727;22844109 574507 ABBA01065962;AMYH01023056;AY882272;NR_030229;Z82193 MIRN504;hsa-mir-504 APPROVED miscrna 32139 PROVISIONAL 1603433 MIR505 microRNA 505 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.1 139373765 139373848 - 138833972 138834055 - 139006307 139006390 - 6480464 15965474;16381832;17604727;17616659;22051041 574508 ABBA01066083;AL590077;AMYH01023060;AY785933;NR_030230 MIRN505;hsa-mir-505 APPROVED miscrna ENSG00000207633 32140 PROVISIONAL 6483922 MIR5008 microRNA 5008 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 228129291 228129384 - 16381832;21558790 100847072 ABBA01005823;AL360269;AMYH01001786;NR_049806 miscrna 43546 PROVISIONAL 6483878 MIR5088 microRNA 5088 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 50185328 50185411 + 16381832;21785231 100847074 ABBA01032913;AC011495;AMYH01009916;NR_049811 miscrna 43489 PROVISIONAL 6483874 MIR5087 microRNA 5087 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 147806603 147806678 - 16381832;21785231 100847044 ABBA01053732;AC245100;AL592207;AMYH01001373;NR_049810 miscrna 43480 PROVISIONAL 1603430 MIR506 microRNA 506 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146667176 146667299 - 146119929 146120052 - 146312238 146312361 - 6480464 15965474;16381832;21726609;22383162;23410973 574511 ABBA01054233;AL589669;AMYH01023173;AY882284;NR_030233 MIRN506;hsa-mir-506 APPROVED miscrna ENSG00000207731 32143 300877 PROVISIONAL 1603429 MIR507 microRNA 507 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146667440 146667533 - 146120193 146120286 - 146312502 146312595 - 6480464 15965474;16381832;17604727 574512 ABBA01054233;AL589669;AMYH01023173;AY882330;NR_030234 MIRN507;hsa-mir-507 APPROVED miscrna ENSG00000207969 32144 PROVISIONAL 1603428 MIR508 microRNA 508 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146673369 146673483 - 146126122 146126236 - 146318431 146318545 - 6480464 22369946;15965474;16381832;17604727 574513 ABBA01054233;AL589669;AMYH01023173;AY882309;NR_030235 MIRN508;hsa-mir-508 APPROVED miscrna ENSG00000207589 32145 300874 PROVISIONAL 1603427 MIR509-1 microRNA 509-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146696988 146697081 - 146149741 146149834 - 146342050 146342143 - 15965474;16381832;17573847;17604727 574514 ABBA01054226;AL589669;AMYH01023173;AY882285;NR_030236 1749287 SHGC-110962 MIRN509;MIRN509-1;hsa-mir-509 microrna 509 APPROVED miscrna ENSG00000208000 32146 300875 PROVISIONAL 6483877 MIR5089 microRNA 5089 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 45050383 45050466 + 16381832;21785231 100847067 AC005670;AMYH01008444;NR_049812 miscrna ENSG00000264999 43536 PROVISIONAL 6483879 MIR5090 microRNA 5090 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 102106189 102106273 + 16381832;21785231 100847073 ABBA01011281;AC093668;AMYH01017770;NR_049813 miscrna 43547 PROVISIONAL 2290252 MIR509-2 microRNA 509-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146695216 146695306 - 146147969 146148059 - 146340278 146340368 - 15965474;16381832;17573847;17604727 100126301 ABBA01054227;AL589669;AMYH01023173;NR_030586 MIRN509-2 APPROVED miscrna ENSG00000212013 33641 PROVISIONAL 6483876 MIR5091 microRNA 5091 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 13629489 13629581 + 16381832;21785231 100847023 ABBA01032545;AC006445;AMYH01014008;NR_049814 miscrna ENSG00000266240 43478 PROVISIONAL 6483873 MIR5092 microRNA 5092 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 124870309 124870396 - 16381832;21785231 100847039 ABBA01016427;AC055752;AMYH01013441;NR_049815 miscrna 43467 PROVISIONAL 1603426 MIR510 microRNA 510 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146708791 146708864 - 146161544 146161617 - 146353853 146353926 - 18614545;15965474;16381832;17604727;19954774 574515 ABBA01054225;AL589669;AMYH01023173;AY882334;NR_030237 MIRN510;hsa-mir-510 APPROVED miscrna ENSG00000207641 32147 300866 PROVISIONAL 5133847 MIR5096 microRNA 5096 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 79741906 79741975 + 16381832;21377523 100616427 ABBA01063388;AC098818;AMYH01014331;NR_039973 APPROVED miscrna 41611 PROVISIONAL 6483875 MIR5094 microRNA 5094 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 90393869 90393953 - 16381832;21785231 100847059 ABBA01053028;AC018988;AMYH01006918;NR_049817 miscrna 43519 PROVISIONAL 6483871 MIR5093 microRNA 5093 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 85339832 85339931 - 16381832;21785231 100847022 ABBA01016881;AC092275;AMYH01007878;NR_049816 miscrna ENSG00000266307 43474 PROVISIONAL 1603777 MIR511-1 microRNA 511-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 p12.33 17820543 17820629 + 17887107 17887193 + 15965474;16381832;23071539;22832163 574445 AL928580;AMYH01002086;NR_030167 MIRN511-1 APPROVED miscrna 32077 VALIDATED 6483867 MIR5100 microRNA 5100 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 43493011 43493129 + 16381832;21895886 100847014 ABBA01049994;AL365199;AMYH01002283;NR_049836 miscrna ENSG00000263795 43540 PROVISIONAL 5133845 MIR5095 microRNA 5095 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 53400602 53400689 + 16381832;21377523 100616458 AC099677;AMYH01000624;NR_039970 APPROVED miscrna 41849 PROVISIONAL 2290219 MIR509-3 microRNA 509-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 146696108 146696182 - 146148861 146148935 - 146341170 146341244 - 6480464 22369946;15965474;16381832;17573847;17604727 100126337 ABBA01054227;AL589669;AMYH01023173;NR_030629 1749287 SHGC-110962 MIRN509-3 APPROVED miscrna ENSG00000212014 33675 300876 PROVISIONAL 1603764 MIR512-1 microRNA 512-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51211024 51211107 + 58861744 58861827 + 54169933 54170016 + 15965474;16381832;17604727;19503096;20372864;20209130 574458 ABBA01068203;AC011453;AMYH01009964;AY882301;AY882302;NR_030180 2187863 G64897 MIRN512-1 APPROVED miscrna ENSG00000207645 32090 PROVISIONAL 1603776 MIR511-2 microRNA 511-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 p12.33 18134036 18134122 + 15965474;16381832 574446 ABBA01034549;AC069023;AMYH01002138;NR_030168 MIRN511-2 APPROVED miscrna 32078 VALIDATED 3497335 MIR513B microRNA 513b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q27.3 146635496 146635579 - 146280562 146280645 - 16381832;17416744 100313822 ABBA01054235;AL589669;AMYH01023172;NR_031708 MIRN513B APPROVED miscrna ENSG00000207871 33935 PROVISIONAL 1603763 MIR512-2 microRNA 512-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51213502 51213599 + 58864222 58864319 + 54172411 54172508 + 15965474;16381832;17604727;19503096;20372864 574459 ABBA01068203;AC011453;AMYH01009964;NR_030181 2187863 G64897 MIRN512-2 APPROVED miscrna ENSG00000207644 32091 PROVISIONAL 1603432 MIR513A1 microRNA 513a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146649914 146650042 - 146102672 146102800 - 146294981 146295109 - 15965474;16381832;17604727 574509 ABBA01054233;AL589669;AMYH01023172;AY882311;NR_030231 MIRN513-1;MIRN513A1 microrna 513-1 APPROVED miscrna ENSG00000207873 32141 PROVISIONAL 1603431 MIR513A2 microRNA 513a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146662278 146662404 - 146115035 146115161 - 146307344 146307470 - 15965474;16381832;17604727 574510 ABBA01054233;AL589669;AMYH01023172;NR_030232 MIRN513-2;MIRN513A-2;MIRN513A2;hsa-mir-513a-2 microrna 513-2 APPROVED miscrna ENSG00000207984 32142 PROVISIONAL 1603425 MIR514A1 microRNA 514a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146715702 146715799 - 146168456 146168553 - 146360765 146360862 - 15965474;16381832;17604727 574516 AL591022;AMYH01023173;AY882310;NR_030238 MIR514-1;MIRN514-1;hsa-mir-514a-1 APPROVED miscrna ENSG00000207868 32148 PROVISIONAL 1603424 MIR514A2 microRNA 514a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 146718398 146718485 - 146171152 146171239 - 146363461 146363548 - 15965474;16381832;17604727 574517 AL591022;AMYH01023173;NR_030239 MIR514-2;MIRN514-2;hsa-mir-514a-2 APPROVED miscrna ENSG00000207866 32149 PROVISIONAL 4109060 MIR514B microRNA 514b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q27.3 146686607 146686686 - 146331669 146331748 - 16381832;20300190;20224791;20459774;21199797 100422847 ABBA01054228;AL589669;AMYH01023173;NR_036173 APPROVED miscrna ENSG00000252583 38292 PROVISIONAL 1603423 MIR514A3 microRNA 514a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q27.3 146173850 146173937 - 146366159 146366246 - 15965474;16381832;17604727 574518 ABBA01054223;AL591022;AMYH01023173;NR_030240 MIR514-3;MIRN514-3;hsa-mir-514a-3 APPROVED miscrna ENSG00000207867 32150 PROVISIONAL 1603757 MIR515-2 microRNA 515-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51229353 51229435 + 58880074 58880156 + 54188263 54188345 + 15965474;16381832;17604727 574465 ABBA01068202;AC011453;AMYH01009964;NR_030187 1661880;2187837 G64901;RH45938 MIRN515-2 APPROVED miscrna ENSG00000207615 32097 PROVISIONAL 1603724 MIR516A2 microRNA 516a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51305490 51305579 + 58956198 58956287 + 54264387 54264476 + 15965474;16381832;17604727 574499 ABBA01068200;AC011453;AMYH01009965;NR_030221 MIRN516-2;MIRN516A-2;MIRN516A2 APPROVED miscrna ENSG00000207620 32131 PROVISIONAL 1603760 MIR515-1 microRNA 515-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51223346 51223428 + 58874068 58874150 + 54182257 54182339 + 15965474;16381832;17604727 574462 ABBA01068202;AC011453;AMYH01009964;AY785919;AY785947;NR_030184 1661880;2187837 G64901;RH45938 MIRN515-1 APPROVED miscrna ENSG00000207616 32094 PROVISIONAL 2974685 MIR513C microRNA 513c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 146626156 146626239 - 146271222 146271305 - 16381832;17416744 100302114 ABBA01054235;AL589669;AMYH01023172;NR_031709 MIRN513C;hsa-mir-513c APPROVED miscrna ENSG00000216171 33934 PROVISIONAL 1603725 MIR516A1 microRNA 516a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51301097 51301186 + 58951806 58951895 + 54259995 54260084 + 15965474;16381832;17604727 574498 ABBA01068200;AC011453;AMYH01009965;NR_030220 MIRN516-1;MIRN516A-1;MIRN516A1 APPROVED miscrna ENSG00000207767 32130 PROVISIONAL 1603738 MIR516B2 microRNA 516b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51269792 51269876 + 58920507 58920591 + 54228696 54228780 + 15965474;16381832;17604727 574485 ABBA01068201;AC011453;AMYH01009964;AY785941;NR_030207 MIRN516-3;MIRN516B-2;MIRN516B2 APPROVED miscrna ENSG00000207925 32117 PROVISIONAL 1603733 MIR516B1 microRNA 516b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51281196 51281285 + 58931910 58931999 + 54240099 54240188 + 15965474;16381832;17604727 574490 ABBA01068200;AC011453;AMYH01009964;NR_030212 MIRN516-4;MIRN516B-1;MIRN516B1 APPROVED miscrna ENSG00000207946 32122 PROVISIONAL 1603740 MIR517B microRNA 517b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51265427 51265493 + 58916141 58916207 + 54224330 54224396 + 6480464 15965474;16381832;22672989 574483 ABBA01068201;AC011453;AMYH01009964;AY882289;NR_030205 MIRN517B APPROVED miscrna ENSG00000207837 32115 PROVISIONAL 1603731 MIR517C microRNA 517c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51285664 51285758 + 58936378 58936472 + 54244567 54244661 + 6480464 19962671;15965474;16381832;17604727;23142219 574492 ABBA01068200;AC011453;AMYH01009964;AY785929;NR_030214 MIRN517C APPROVED miscrna ENSG00000207838 32124 PROVISIONAL 1603744 MIR517A microRNA 517a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51256616 51256702 + 58907333 58907419 + 54215522 54215608 + 6480464 15965474;16381832;17604727;20209130;21479368;23142219;22672989 574479 ABBA01068201;AC011453;AMYH01009964;AY882296;NR_030201 MIRN517A APPROVED miscrna ENSG00000207734 32111 PROVISIONAL 6483911 MIR5189 microRNA 5189 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 88535326 88535439 + 16381832;21606961 100847057 ABBA01015836;AC135049;AMYH01007909;NR_049821 miscrna 43515 PROVISIONAL 6483932 MIR5187 microRNA 5187 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 161196976 161197051 + 16381832;21606961 100847090 ABBA01016596;AL590714;AMYH01001457;NR_049819 miscrna 43523 PROVISIONAL 1603732 MIR518A2 microRNA 518a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51283684 51283770 + 58934398 58934484 + 54242587 54242673 + 15965474;16381832;17604727 574491 ABBA01068200;AC011453;AMYH01009964;NR_030213 2187837 G64901 MIRN518A-2;MIRN518A2 APPROVED miscrna ENSG00000207699 32123 PROVISIONAL 6483885 MIR5188 microRNA 5188 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 125400093 125400205 + 16381832;21606961 100847004 ABBA01060362;AC126309;AMYH01004852;NR_049820 miscrna ENSG00000265345 43502 PROVISIONAL 6483899 MIR5186 microRNA 5186 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 151283664 151283783 - 16381832;21606961 100847036 ABBA01058907;AC117454;AMYH01013580;NR_049818 miscrna ENSG00000264330 43459 PROVISIONAL 1603735 MIR518A1 microRNA 518a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51275357 51275441 + 58926071 58926155 + 54234260 54234344 + 15965474;16381832;17604727 574488 ABBA01068201;AC011453;AMYH01009964;AY785914;AY882297;NR_030210 MIRN518A-1;MIRN518A1 APPROVED miscrna ENSG00000207803 32120 PROVISIONAL 1603749 MIR518B microRNA 518b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51247080 51247162 + 58897802 58897884 + 54205991 54206073 + 6480464 15965474;16381832;17604727;21269950;22958893;22672989 574474 ABBA01068202;AC011453;AMYH01009964;AY785930;NR_030196 MIRN518B APPROVED miscrna ENSG00000207862 32106 PROVISIONAL 1603746 MIR518C microRNA 518c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51253083 51253183 + 58903800 58903900 + 54211989 54212089 + 6480464 15965474;16381832;17604727 574477 ABBA01068202;AC011453;AMYH01009964;AY785931;NR_030199 MIRN518C APPROVED miscrna ENSG00000207553 32109 PROVISIONAL 1603751 MIR518F microRNA 518f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51244358 51244444 + 58895080 58895166 + 54203269 54203355 + 6480464 15965474;16381832;17604727 574472 ABBA01068202;AC011453;AMYH01009964;AY785915;AY882327;NR_030194 MIRN518F APPROVED miscrna ENSG00000207706 32104 PROVISIONAL 1603734 MIR518D microRNA 518d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51279228 51279314 + 58929942 58930028 + 54238131 54238217 + 6480464 15965474;16381832;17604727 574489 ABBA01068200;AC011453;AMYH01009964;AY785916;NR_030211 MIRN518D APPROVED miscrna ENSG00000207747 32121 PROVISIONAL 6483914 MIR5191 microRNA 5191 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 201688636 201688755 + 16381832;21606961 100847050 AL645504;AMYH01001643;NR_049823 miscrna 43497 PROVISIONAL 6483933 MIR5192 microRNA 5192 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 62432961 62433052 + 16381832;21606961 100847087 ABBA01075382;AC018462;AMYH01010390;NR_049824 miscrna ENSG00000266097 43473 PROVISIONAL 6483923 MIR5190 microRNA 5190 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 13459946 13460025 + 16381832;21606961 100847080 ABBA01074041;AMYH01008846;AP002439;NR_049822 miscrna 43549 PROVISIONAL 1603736 MIR518E microRNA 518e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51274189 51274276 + 58924903 58924990 + 54233092 54233179 + 6480464 15965474;16381832;17604727 574487 ABBA01068201;AC011453;AMYH01009964;AY785923;NR_030209 MIRN518E APPROVED miscrna ENSG00000207987 32119 PROVISIONAL 6483912 MIR5194 microRNA 5194 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 131020580 131020699 - 16381832;21606961 100847051 ABBA01037973;AC131568;AMYH01019024;NR_049826 miscrna ENSG00000264653 43498 PROVISIONAL 6483880 MIR5197 microRNA 5197 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 143059425 143059536 + 16381832;21606961 100846991 ABBA01026362;AC008696;AMYH01015670;NR_049829 miscrna ENSG00000266478 43450 PROVISIONAL 6483930 MIR5193 microRNA 5193 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 49843570 49843678 - 16381832;21606961 100847079 ABBA01024574;AC139451;AMYH01013162;NR_049825 miscrna 43534 PROVISIONAL 1603727 MIR519A1 microRNA 519a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51296755 51296839 + 58947462 58947546 + 54255651 54255735 + 19088191;15965474;16381832;17604727;20209130;21083603 574496 ABBA01068200;AC011453;AMYH01009964;NR_030218 MIRN519A-1;MIRN519A1 APPROVED miscrna ENSG00000207992 32128 PROVISIONAL 6483920 MIR5196 microRNA 5196 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 35836416 35836530 + 16381832;21606961 100847070 ABBA01018740;AMYH01009727;NR_049828;U62631 miscrna 43542 PROVISIONAL 1603753 MIR519B microRNA 519b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51239556 51239636 + 58890278 58890358 + 54198467 54198547 + 6480464 19088191;15965474;16381832;17604727;22981979 574469 ABBA01068202;AC011453;AMYH01009964;AY882331;NR_030191 MIRN519B APPROVED miscrna ENSG00000207825 32101 PROVISIONAL 1603441 MIR519A2 microRNA 519a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51306701 51306787 + 58957409 58957495 + 54265598 54265684 + 19088191;15965474;16381832;17604727;21083603 574500 ABBA01068200;AC011453;AMYH01009965;NR_030222 MIRN519A-2;MIRN519A2 APPROVED miscrna ENSG00000207723 32132 PROVISIONAL 1603756 MIR519C microRNA 519c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51230813 51230899 + 58881534 58881620 + 54189723 54189809 + 6480464 21219875;18573883;19088191;19825807;20233879;15965474;16381832;17604727;22887864 574466 ABBA01068202;AC011453;AMYH01009964;AY882286;AY882326;NR_030188 MIRN519C APPROVED miscrna ENSG00000207788 32098 PROVISIONAL 1603743 MIR519D microRNA 519d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51257695 51257782 + 58908412 58908499 + 54216601 54216688 + 6480464 15965474;16381832;17604727;21524841;22262409 574480 ABBA01068201;AC011453;AMYH01009964;AY785939;NR_030202 1728265 G63561 MIRN519D APPROVED miscrna ENSG00000207981 32112 614247 PROVISIONAL 1603755 MIR520A microRNA 520a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51235223 51235307 + 58885946 58886030 + 54194135 54194219 + 15965474;16381832;17604727 574467 ABBA01068202;AC011453;AMYH01009964;AY785926;AY882292;NR_030189 1340309;1759717 D19S924;SHGC-150939 MIRN520A APPROVED miscrna ENSG00000207594 32099 PROVISIONAL 1603759 MIR519E microRNA 519e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51224283 51224366 + 58875005 58875088 + 54183194 54183277 + 6480464 15965474;16381832;17604727 574463 ABBA01068202;AC011453;AMYH01009964;AY785925;AY785938;NR_030185 MIRN519E APPROVED miscrna ENSG00000207810 32095 PROVISIONAL 1603750 MIR520B microRNA 520b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51245570 51245630 + 58896292 58896352 + 54204481 54204541 + 6480464 22319632;15965474;16381832;21343296 574473 ABBA01068202;AC011453;AMYH01009964;AY785927;AY882300;NR_030195 MIRN520B APPROVED miscrna ENSG00000207722 32105 PROVISIONAL 1603761 MIR520E microRNA 520e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51220054 51220140 + 58870776 58870862 + 54178965 54179051 + 22105365;15965474;16381832 574461 ABBA01068202;AC011453;AMYH01009964;AY882267;NR_030183 MIRN520E APPROVED miscrna ENSG00000207599 32093 PROVISIONAL 1603758 MIR520F microRNA 520f microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51226503 51226589 + 58877224 58877310 + 54185413 54185499 + 15965474;16381832 574464 ABBA01068202;AC011453;AMYH01009964;AY785940;NR_030186 MIRN520F APPROVED miscrna ENSG00000207555 32096 PROVISIONAL 1603730 MIR520H microRNA 520h microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51286863 51286950 + 58937577 58937664 + 54245766 54245853 + 6480464 15965474;16381832;22887864 574493 ABBA01068200;AC011453;AMYH01009964;AY785928;NR_030215 MIRN520H APPROVED miscrna ENSG00000207861 32125 614755 PROVISIONAL 1603741 MIR520D microRNA 520d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51264445 51264531 + 58915161 58915247 + 54223350 54223436 + 6480464 15965474;16381832;17604727;22128589 574482 ABBA01068201;AC011453;AMYH01009964;AY785937;NR_030204 MIRN520D APPROVED miscrna ENSG00000207735 32114 PROVISIONAL 1603747 MIR520C microRNA 520c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51251799 51251885 + 58902518 58902604 + 54210707 54210793 + 6480464 15965474;16381832;17604727;22158050 574476 ABBA01068202;AC011453;AMYH01009964;NR_030198 MIRN520C APPROVED miscrna ENSG00000207738 32108 PROVISIONAL 1603739 MIR520G microRNA 520g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51266517 51266606 + 58917231 58917320 + 54225420 54225509 + 6480464 19962671;15965474;16381832;17604727 574484 ABBA01068201;AC011453;AMYH01009964;AY785945;NR_030206 MIRN520G APPROVED miscrna ENSG00000207799 32116 PROVISIONAL 1603729 MIR521-1 microRNA 521-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51292998 51293084 + 58943701 58943787 + 54251890 54251976 + 15965474;16381832;17604727 574494 ABBA01068200;AC011453;AMYH01009964;NR_030216 MIRN521-1 APPROVED miscrna ENSG00000207634 32126 PROVISIONAL 1603742 MIR521-2 microRNA 521-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51260943 51261029 + 58911659 58911745 + 54219848 54219934 + 15965474;16381832;17604727 574481 ABBA01068201;AC011453;AMYH01009964;AY882329;NR_030203 MIRN521-2 APPROVED miscrna ENSG00000207549 32113 PROVISIONAL 2313003 MIR525 microRNA 525 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 q13.42 51241875 51241959 + 54200787 54200871 + 6480464 15965474;16381832;17604727 574470 ABBA01068202;AC011453;AMYH01009964;AY785917;AY882303;NR_030192 1728265 G63561 MIRN525;hsa-mir-525 APPROVED miscrna ENSG00000207711 32102 PROVISIONAL 1603748 MIR526A1 microRNA 526a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51250598 51250682 + 58901317 58901401 + 54209506 54209590 + 15965474;16381832;17604727 574475 ABBA01068202;AC011453;AMYH01009964;AY882336;NR_030197 MIRN526A-1;MIRN526A1 APPROVED miscrna ENSG00000207629 32107 PROVISIONAL 1603745 MIR524 microRNA 524 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51255350 51255436 + 58906067 58906153 + 54214256 54214342 + 6480464 15965474;16381832;17604727;22871495 574478 ABBA01068201;AC011453;AMYH01009964;AY785918;AY882291;NR_030200 MIRN524;hsa-mir-524 APPROVED miscrna ENSG00000207977 32110 PROVISIONAL 1603737 MIR526A2 microRNA 526a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 51271272 51271336 + 58921987 58922051 + 54230176 54230240 + 15965474;16381832;17604727 574486 ABBA01068201;AC011453;AMYH01009964;NR_030208 MIRN526A-2;MIRN526A2 APPROVED miscrna ENSG00000211532 32118 PROVISIONAL 1603728 MIR522 microRNA 522 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51295569 51295655 + 58946276 58946362 + 54254465 54254551 + 6480464 15965474;16381832;17604727;17616659;21533135 574495 ABBA01068200;AC011453;AMYH01009964;AY785936;NR_030217 MIRN522;hsa-mir-522 APPROVED miscrna ENSG00000207806 32127 PROVISIONAL 1603754 MIR526B microRNA 526b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51238736 51238818 + 58889458 58889540 + 54197647 54197729 + 6480464 15965474;16381832;17604727 574468 ABBA01068202;AC011453;AMYH01009964;AY882287;NR_030190 MIRN526B APPROVED miscrna ENSG00000207580 32100 PROVISIONAL 1603752 MIR523 microRNA 523 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51242727 51242813 + 58893450 58893536 + 54201639 54201725 + 6480464 15965474;16381832;17604727 574471 ABBA01068202;AC011453;AMYH01009964;AY785942;NR_030193 1728265 G63561 MIRN523;hsa-mir-523 APPROVED miscrna ENSG00000208016 32103 PROVISIONAL 1603726 MIR527 microRNA 527 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51298373 51298457 + 58949083 58949167 + 54257272 54257356 + 15965474;16381832;17604727 574497 ABBA01068200;AC011453;AMYH01009964;NR_030219 MIRN527;hsa-mir-527 APPROVED miscrna ENSG00000207979 32129 PROVISIONAL 2290246 MIR541 microRNA 541 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81586894 81586977 + 100600584 100600667 + 101530832 101530915 + 6480464 16381832;17604727 100126308 ABBA01048514;AL132709;AMYH01006017;NR_030594 MIRN541;hsa-mir-541 APPROVED miscrna ENSG00000216179 33650 PROVISIONAL 1606043 MIR542 microRNA 542 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 134062199 134062295 - 133503036 133503132 - 133675371 133675467 - 6480464 20728447;16274478;16381832;17604727;17616659;22426479;21860426;23118427 664617 ABBA01042454;AC004383;AMYH01022993;NR_030399 MIRN542;hsa-mir-542 APPROVED miscrna ENSG00000207784 32534 PROVISIONAL 2313004 MIR543 microRNA 543 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 q32.31 81554368 81554445 + 101498324 101498401 + 6480464 22752669;16381832;16954537;17604727 100126335 ABBA01048514;AL132709;AMYH01006016;NR_030619 MIRN543;hsa-mir-543 APPROVED miscrna ENSG00000212040 33664 PROVISIONAL 1606047 MIR544A microRNA 544a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 81571056 81571146 + 100584747 100584837 + 101514995 101515085 + 6480464 16274478;16381832;17604727;22934698 664613 ABBA01048514;AL132709;AMYH01006017;NR_030257 MIR544;MIRN544;hsa-mir-544;hsa-mir-544a APPROVED miscrna ENSG00000207587 32530 PROVISIONAL 4109043 MIR544B microRNA 544b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 122858457 122858534 + 124451286 124451363 + 20300190;16381832 100422864 ABBA01016433;AC022336;AMYH01013438;NR_036088 APPROVED miscrna 38361 PROVISIONAL 1606046 MIR545 microRNA 545 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X 73790405 73790510 - 73423663 73423768 - 73506939 73507044 - 16274478;16381832;17604727 664614 ABBA01059585;AC004386;AMYH01022613;NR_030258 MIRN545;hsa-mir-545 APPROVED miscrna ENSG00000207820 32531 PROVISIONAL 1606048 MIR539 microRNA 539 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81569715 81569792 + 100583410 100583487 + 101513658 101513735 + 6480464 20592104;16274478;16381832;16973894;17604727 664612 ABBA01048514;AL132709;AMYH01006017;NR_030256 MIRN539;hsa-mir-539 APPROVED miscrna ENSG00000202560 32529 PROVISIONAL 1603130 MIR548A2 microRNA 548a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 136300643 136300739 + 135601990 135602086 + 135560298 135560394 + 16381832;16505370;17604727;23218918 693126 ABBA01025841;AL023693;AMYH01016693;NR_030317 MIRN548A2 APPROVED miscrna ENSG00000207689 32797 PROVISIONAL 1603132 MIR532 microRNA 532 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p11.23 49654493 49654583 + 49767754 49767844 + 6480464 19336521;16381832;17604727;17616659;22925189 693124 AF222686;NR_030241 MIRN532;hsa-mir-532 APPROVED miscrna 32795 PROVISIONAL 4888804 MIR548AA1 microRNA 548aa-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 124360274 124360370 + 16381832;20459774 100500863 ABBA01037873;AC021305;AMYH01019004;NR_037516 APPROVED miscrna ENSG00000207704 38944 VALIDATED 1603131 MIR548A1 microRNA 548a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 19809879 19809975 + 18679993 18680089 + 18572015 18572111 + 16381832;16505370;17604727 693125 ABBA01022237;AL023655;AMYH01016124;NR_030312 1339965 D6S285 MIRN548A1 APPROVED miscrna ENSG00000207775 32796 PROVISIONAL 1603129 MIR548A3 microRNA 548a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7;8 8 8 58927825 58962785 - 105565772 105565868 - 105496597 105496693 - 16381832;16505370;17604727 693127 AP002847;NR_030330 1730313 D14S95E MIRN548A3 APPROVED miscrna ENSG00000208032 32798 VALIDATED 5133930 MIR548AB microRNA 548ab microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 103242877 103242960 - 16381832;20733160 100616336 ABBA01061755;AC046144;AMYH01013366;NR_039611 APPROVED miscrna ENSG00000265328 41825 PROVISIONAL 4888775 MIR548AA2 microRNA 548aa-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 65467605 65467701 + 16381832;20459774 100500895 AC110921;AMYH01008584;NR_037517 APPROVED miscrna 38921 PROVISIONAL 5133937 MIR548AE1 microRNA 548ae-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 185243702 185243771 + 16381832;20733160 100616305 ABBA01062320;AC096646;AMYH01011323;NR_039638 APPROVED miscrna ENSG00000266808 41742 PROVISIONAL 5133927 MIR548AE2 microRNA 548ae-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 57825870 57825936 - 16381832;20733160 100616339 ABBA01015787;AC008814;AMYH01015100;NR_039639 APPROVED miscrna ENSG00000265699 41831 PROVISIONAL 5133899 MIR548AG1 microRNA 548ag-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 61788337 61788402 + 16381832;20733160 100616450 ABBA01022828;AC093820;AMYH01014219;NR_039652 APPROVED miscrna ENSG00000265829 41625 PROVISIONAL 5133890 MIR548AD microRNA 548ad microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 35696471 35696552 + 16381832;20733160;21558790 100616475 ABBA01074940;AC083939;AMYH01010251;NR_039629 APPROVED miscrna ENSG00000265301 41683 PROVISIONAL 5133896 MIR548AG2 microRNA 548ag-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 59139620 59139683 + 16381832;20733160 100616440 ABBA01005949;AL358237;AMYH01012031;NR_039653 APPROVED miscrna ENSG00000265617 41745 PROVISIONAL 5133910 MIR548AC microRNA 548ac microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 117102646 117102733 - 16381832;20733160;19525953;22190364 100616384 ABBA01068488;AL355794;AMYH01000969;NR_039621 APPROVED miscrna 41626 VALIDATED 5133923 MIR548AI microRNA 548ai microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 99572485 99572572 + 16381832;20733160 100616347 ABBA01014490;AL590022;AMYH01016537;NR_039672 APPROVED miscrna ENSG00000265226 41854 PROVISIONAL 5133963 MIR548AJ2 microRNA 548aj-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X p21.1 37883148 37883239 - 16381832;20733160 100616252 AL121578;AMYH01022211;NR_039674 APPROVED miscrna ENSG00000221466 41600 PROVISIONAL 5133982 MIR548AJ1 microRNA 548aj-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 132436332 132436403 - 16381832;20733160 100616191 ABBA01025882;AL021408;AMYH01016676;NR_039673 APPROVED miscrna ENSG00000265669 41884 PROVISIONAL 5133958 MIR548AH microRNA 548ah microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 77496704 77496779 + 21558790;21911355;16381832;20733160 100616254 ABBA01063363;AC112249;AMYH01014315;NR_039655 APPROVED miscrna 41605 PROVISIONAL 5133881 MIR548AK microRNA 548ak microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 12172759 12172815 - 16381832;20733160 100616488 ABBA01034671;AC073160;AMYH01002030;NR_039699 APPROVED miscrna ENSG00000265653 41893 PROVISIONAL 5134004 MIR548AN microRNA 548an microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 105883044 105883126 + 16381832;20733160 100616144 AL590808;AMYH01022826;NR_039765 APPROVED miscrna 41681 PROVISIONAL 5133975 MIR548AL microRNA 548al microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 74110282 74110378 + 16381832;20733160 100616215 ABBA01017489;AMYH01003813;AP001085;NR_039710 APPROVED miscrna ENSG00000264402 41736 PROVISIONAL 5133900 MIR548AM microRNA 548am microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 16645135 16645208 - 16381832;20733160 100616428 ABBA01071441;AL445467;AMYH01022111;NR_039762 APPROVED miscrna 41637 PROVISIONAL 6483927 MIR548AP microRNA 548ap microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 86368866 86368961 + 16381832;21558790;17903295 100847084 ABBA01052970;AC104229;AMYH01006898;NR_049805 miscrna ENSG00000264406 43465 PROVISIONAL 6483916 MIR548AO microRNA 548ao microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 41128567 41128662 - 16381832;21558790 100847068 ABBA01021127;AC104393;AMYH01018668;NR_049801 miscrna 43539 PROVISIONAL 6483961 MIR548AQ microRNA 548aq microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 185485635 185485692 - 16381832;21911355 100847078 ABBA01058405;AC108670;AMYH01013729;NR_049838 miscrna 43488 PROVISIONAL 6483958 MIR548AR microRNA 548ar microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 115009980 115010036 + 16381832;21911355 100847035 ABBA01006267;AL160396;AMYH01005417;NR_049839 miscrna 43455 PROVISIONAL 6483966 MIR548AS microRNA 548as microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 93142416 93142473 + 16381832;21911355 100847092 ABBA01027226;AL159152;AMYH01005292;NR_049840 miscrna 43550 PROVISIONAL 6483942 MIR548AW microRNA 548aw microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 135821094 135821158 + 16381832;21980368 100846992 AL445645;AMYH01021792;NR_049862 miscrna ENSG00000263816 43454 PROVISIONAL 6483960 MIR548AU microRNA 548au microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 96357123 96357176 + 16381832;21911355 100847045 ABBA01018615;AL353629;AMYH01021516;NR_049853 miscrna 43483 PROVISIONAL 6483918 MIR548AX microRNA 548ax microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 11336734 11336806 - 16381832;21980368 100847063 ABBA01070901;AC002366;AMYH01022078;NR_049865 miscrna 43528 PROVISIONAL 6483963 MIR548AV microRNA 548av microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 70520556 70520617 - 16381832;21911355 100847083 AC091138;AMYH01009092;NR_049858 miscrna 43537 PROVISIONAL 6483869 MIR548AT microRNA 548at microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 40646791 40646848 + 16381832;21911355;21980368 100847030 ABBA01006422;AC107993;AMYH01008394;NR_049845 miscrna 43517 PROVISIONAL 3476301 MIR548E microRNA 548e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 10 10 q25.2 106480270 106480357 + 112748684 112748771 + 16381832;18285502 100313921 ABBA01063019;AL158163;AMYH01003065;NG_028922;NR_031614 MIRN548E;hsa-mir-548e APPROVED miscrna 35275 VALIDATED 2974670 MIR548F1 microRNA 548f-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 q21.1 49630771 49630854 - 56367634 56367717 - 16381832;18285502 100302192 ABBA01019404;AL391356;AMYH01002756;NR_031642 MIR548F-1;MIRN548F1;hsa-mir-548f-1 APPROVED miscrna 35305 PROVISIONAL 3516314 MIR548F2 microRNA 548f-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 2 2 q34 207055764 207055861 - 213290987 213291084 - 16381832;18285502 100313771 ABBA01062761;AC092680;AMYH01011477;NR_031643 MIR548F-2;MIRN548F2;hsa-mir-548f-2 APPROVED miscrna 35306 PROVISIONAL 1603128 MIR548B microRNA 548b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q22.31 46722370 46722401 - 119431910 119432006 - 119390212 119390308 - 6480464 16381832;16505370;17604727 693128 ABBA01026020;AL137009;AMYH01016625;NR_030315 1701124 RH104190 MIRN548B APPROVED miscrna 32799 VALIDATED 1603126 MIR548D1 microRNA 548d-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4;8 8 8 120548926 120549022 - 124429454 124429550 - 124360274 124360370 - 16381832;16505370;17604727;19486885 693130 ABBA01037873;AC021305;AMYH01019004;NR_030382 MIRN548D1 APPROVED miscrna 32801 PROVISIONAL 1603127 MIR548C microRNA 548c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12;15 12 12 64681073 64681169 + 63302555 63302651 + 65016289 65016385 + 16381832;16505370;17604727 693129 AC078962;AMYH01004549;NR_030347 MIRN548C APPROVED miscrna 32800 PROVISIONAL 3497319 MIR548F4 microRNA 548f-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 7 7 q35 141749278 141749382 - 147075109 147075213 - 16381832;18285502 100313895 AACC02000041;ABBA01033580;AC073273;AMYH01018108;NR_031645 MIR548F-4;MIRN548F4;hsa-mir-548f-4 APPROVED miscrna ENSG00000221442 35308 PROVISIONAL 2946921 MIR548F5 microRNA 548f-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X p21.1 36786893 36786978 - 32659591 32659676 - 16381832;18285502 100302239 ABBA01073190;AC004468;AMYH01022201;NR_031646 MIR548F-5;MIRN548F5;hsa-mir-548f-5 APPROVED miscrna 35309 PROVISIONAL 2974678 MIR548F3 microRNA 548f-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 105795396 105795482 - 109849530 109849616 - 16381832;18285502 100302159 ABBA01069077;AC012622;AMYH01015545;NR_031644 MIR548F-3;MIRN548F3;hsa-mir-548f-3 APPROVED miscrna 35307 PROVISIONAL 3476299 MIR548G microRNA 548g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 4 4 9495811 9525581 + 148265781 148265869 - 16381832;18285502 100313938 ABBA01070054;AC010683;AMYH01014601;NR_031662 1342128;2179810 D16S687;WI-1796 MIRN548G;hsa-mir-548g APPROVED miscrna ENSG00000221369 35326 VALIDATED 1603125 MIR548D2 microRNA 548d-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17;5 17 17 44615668 44615698 - 62898066 62898162 - 65467605 65467701 - 16381832;16505370;17604727;19486885;23377640 693131 AC110921;AMYH01008584;NR_030385 MIRN548D2 APPROVED miscrna 32802 PROVISIONAL 3516311 MIR548H2 microRNA 548h-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16;6 16 70322675 70322705 - 11400297 11400384 - 16381832;18285502 100313773 ABBA01006811;AC009121;AMYH01007152;NR_031678 MIR548H-2;MIRN548H2 APPROVED miscrna ENSG00000221801 35343 VALIDATED 3497332 MIR548H1 microRNA 548h-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 q23.2 44619445 44619546 - 64561742 64561843 - 16381832;18285502 100313830 ABBA01018349;AL355094;AMYH01005797;NR_031677 MIR548H-1;MIRN548H1 APPROVED miscrna ENSG00000221537 35342 PROVISIONAL 5133897 MIR548H5 microRNA 548h-5 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 132113312 132113371 + 16381832;20733160 100616455 ABBA01025887;AC005587;AMYH01016674;NR_039610 APPROVED miscrna ENSG00000266807 41768 PROVISIONAL 2946928 MIR548I1 microRNA 548i-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 123928915 123929063 - 125509247 125509395 - 16381832;18285502 100302204 ABBA01016406;AC092902;AMYH01013445;NR_031687 MIR548I-1;MIRN548I1;hsa-mir-548i-1 APPROVED miscrna ENSG00000221737 35352 PROVISIONAL 2974672 MIR548I3 microRNA 548i-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 7023096 7023244 + 7946463 7946611 - 16381832;18285502 100302186 AC105233;NR_031689 MIR548I-3;MIRN548I3;hsa-mir-548i-3 APPROVED miscrna ENSG00000221305 35354 PROVISIONAL 2974671 MIR548I4 microRNA 548i-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q21.1 83719531 83719607 - 83480760 83480836 - 16381832;18285502 100302191 ABBA01051539;AL389887;AMYH01022659;NR_031690 MIR548I-4;MIRN548I4;hsa-mir-548i-4 APPROVED miscrna ENSG00000221494 35355 PROVISIONAL 3497323 MIR548H4 microRNA 548h-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 8 8 60708897 60708928 + 26906370 26906480 - 16381832;18285502 100313884 AC067904;AMYH01018593;NR_031680 MIR548H-4;MIRN548H4;hsa-mir-548h-4 APPROVED miscrna ENSG00000221616 35345 VALIDATED 3476302 MIR548J microRNA 548j microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Nov 2009] 22 22 q12.1 10755029 10755140 - 26951178 26951289 - 16381832;18285502 100313914 ABBA01055201;AMYH01012684;NR_031615;Z95115 MIRN548J;hsa-mir-548j APPROVED miscrna ENSG00000221760 35276 PROVISIONAL 2946913 MIR548I2 microRNA 548i-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 10038181 10038329 - 9557789 9557937 - 16381832;18285502 100302277 ABBA01032501;AC116655;AMYH01013987;NR_031688 MIR548I-2;MIRN548I2;hsa-mir-548i-2 APPROVED miscrna ENSG00000221275 35353 PROVISIONAL 2946907 MIR548H3 microRNA 548h-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 83158408 83158443 + 13446846 13446963 - 16381832;18285502 100302287 AC005411;AMYH01008122;NR_031679 MIR548H-3;MIRN548H3;hsa-mir-548h-3 APPROVED miscrna 35344 VALIDATED 2946914 MIR548L microRNA 548l microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 91487467 91487552 - 94199661 94199746 - 16381832;18285502 100302275 ABBA01040029;AP000786;NR_031630 1788092 G67219 MIRN548L;hsa-mir-548l APPROVED miscrna 35292 PROVISIONAL 3516313 MIR548K microRNA 548k microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 q13.3 67389394 67389509 + 70130061 70130176 + 16381832;18285502 100313770 ABBA01010305;AMYH01003777;AP002336;NR_031624 MIRN548K APPROVED miscrna 35285 PROVISIONAL 3516310 MIR548M microRNA 548m microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X q21.33 94843199 94843284 - 94318140 94318225 - 16381832;18285502 100313772 AL390966;AMYH01022693;NR_031667 MIRN548M APPROVED miscrna ENSG00000221187 35331 PROVISIONAL 2974679 MIR548N microRNA 548n microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 p14.3 17559659 17559694 + 34980372 34980446 - 16381832;18285502 100302152 AC005271;AC010085;AMYH01017174;NR_031666 MIRN548N;hsa-mir-548n APPROVED miscrna 35330 VALIDATED 5133986 MIR548O2 microRNA 548o-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 37145206 37145275 + 16381832;20733160 100616190 ABBA01052526;AL049868;AMYH01011906;NR_039605 APPROVED miscrna 41882 PROVISIONAL 3497333 MIR548O microRNA 548o microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 q22.1 97058496 97058609 - 102046189 102046302 - 16381832;18285502 100313829 ABBA01011285;AC073517;AC093668;AMYH01017770;NR_031669 MIRN548O APPROVED miscrna ENSG00000221510 35333 PROVISIONAL 3497326 MIR548Q microRNA 548q microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 p13 12693758 12693857 - 12767253 12767352 - 16381832;19390579 100313841 ABBA01034640;AL731559;AMYH01002036;NR_031752 APPROVED miscrna ENSG00000221331 37312 PROVISIONAL 4109064 MIR548S microRNA 548s microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 11824708 11824789 + 11907570 11907651 + 16381832;20300190 100422862 ABBA01015655;AC012456;AMYH01010117;NR_036071 APPROVED miscrna 38354 PROVISIONAL 2946906 MIR548P microRNA 548p microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 q21.1 96099835 96099918 - 100152186 100152269 - 16381832;18285502 100302288 ABBA01069169;AC117530;AMYH01015505;NR_031686 MIRN548P;hsa-mir-548p APPROVED miscrna 35351 PROVISIONAL 4109065 MIR548T microRNA 548t microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4;5 4 162633826 162633853 + 174189311 174189384 + 16381832;20300190;20532037 100422849 ABBA01070372;AC097534;AMYH01014716;NR_036093 APPROVED miscrna 38298 VALIDATED 4109037 MIR548U microRNA 548u microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 57254930 57255010 + 16381832;20300190 100422884 ABBA01050478;AL121975;AMYH01016370;NR_036097 APPROVED miscrna ENSG00000212017 38316 PROVISIONAL 4109056 MIR548V microRNA 548v microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 16504736 16504815 - 17539087 17539166 - 16381832;20300190 100422850 ABBA01021581;AC124069;AMYH01018547;NR_036103 APPROVED miscrna 38302 PROVISIONAL 5133944 MIR548X2 microRNA 548x-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 66540462 66540561 - 16381832;20733160 100616302 ABBA01050276;AL158038;AMYH01005183;NR_039692 APPROVED miscrna ENSG00000263581 41734 PROVISIONAL 4108995 MIR548X microRNA 548x microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 20058408 20058482 - 16381832;20300190 100422920 ABBA01057138;AMYH01012153;AP001537;NR_036166 APPROVED miscrna ENSG00000265841 38248 PROVISIONAL 4888754 MIR548Y microRNA 548y microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 48230198 48230307 - 16381832;20498841 100500919 AL162551;AMYH01005707;NR_037503 APPROVED miscrna ENSG00000263945 38980 PROVISIONAL 4888811 MIR548Z microRNA 548z microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 65016289 65016385 - 16381832;20459774 100500856 AC078962;AMYH01004549;NR_037515 APPROVED miscrna 38929 PROVISIONAL 5133851 MIR550A3 microRNA 550a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 29720350 29720444 - 21911355;16381832;16954537;20733160 100616354 ABBA01056801;AC007276;AMYH01017142;NR_039600 APPROVED miscrna ENSG00000212024 41870 PROVISIONAL 4888785 MIR550B1 microRNA 550b-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 30329410 30329506 - 16381832;20459774 100500883 AACC02000087;ABBA01056813;AC006978;AMYH01017148;NR_037513 APPROVED miscrna 38992 PROVISIONAL 5134847 MIR550B2 microRNA 550b-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 32772593 32772689 - 16381832;20459774 100500830 ABBA01056849;AC018645;AMYH01017160;NR_037514 APPROVED miscrna 38910 PROVISIONAL 4109919 MIR548W microRNA 548w microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 24812965 24813038 + 26036558 26036631 + 16381832;20300190 100422923 ABBA01017130;AC093516;AMYH01007401;NR_036146 1829328;1830808;1901158;1901160;1901162;1901164;1901166;1901168;1901170;1901172 ECD15795;ECD16540;REN21378;REN21379;REN21380;REN21381;REN21382;REN21383;REN21384;REN21385 APPROVED miscrna 38255 PROVISIONAL 1603123 MIR550A1 microRNA 550a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p14.3 30318734 30318830 + 30295934 30296030 + 30329410 30329506 + 16505370;17604727;16381832 693133 AACC02000087;ABBA01056813;AC006978;AMYH01017148;NR_030319 MIR550-1;MIRN550-1;hsa-mir-550a-1 APPROVED miscrna 32804 PROVISIONAL 1603124 MIR549 microRNA 549 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q25.1 58071814 58071909 - 78921373 78921468 - 81134319 81134414 - 16381832;16505370 693132 ABBA01060632;AC027808;AMYH01006851;NR_030393 MIRN549;hsa-mir-549 APPROVED miscrna ENSG00000208003 32803 PROVISIONAL 1603121 MIR551A microRNA 551a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p36.32 2730890 2730985 - 3467118 3467213 - 3477259 3477354 - 16381832;16505370;22469786 693135 ABBA01073657;AL513320;AMYH01000189;NR_030277 MIRN551A APPROVED miscrna 32806 615148 PROVISIONAL 1603122 MIR550A2 microRNA 550a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p14.3 32757961 32758057 + 32739117 32739213 + 32772593 32772689 + 16381832;16505370;17604727 693134 ABBA01056849;AC018645;AMYH01017160;NR_030320 MIR550-2;MIRN550-2;hsa-mir-550a-2 APPROVED miscrna ENSG00000207573 32805 PROVISIONAL 1603119 MIR552 microRNA 552 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p34.3 33408917 33409012 - 34907786 34907881 - 35135200 35135295 - 16381832;16505370 693137 ABBA01023363;AC099565;AMYH01000486;NR_030278 MIRN552;hsa-mir-552 APPROVED miscrna ENSG00000207941 32808 PROVISIONAL 1603120 MIR551B microRNA 551b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q26.2 166668180 166668275 + 169752335 169752430 + 168269642 168269737 + 6480464 16381832;16505370;17604727 693136 ABBA01058721;AC018356;AMYH01013639;NR_030294 MIRN551B APPROVED miscrna ENSG00000207717 32807 PROVISIONAL 6483939 MIR5579 microRNA 5579 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 79133213 79133270 - 16381832;21911355 100847000 ABBA01017397;AMYH01003833;AP001838;NR_049841 miscrna ENSG00000266570 43485 PROVISIONAL 2312881 MIR558 microRNA 558 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 p22.3 32602012 32602105 + 32757220 32757313 + 16381832;16505370 693143 ABBA01074892;AL133243;AMYH01010235;NR_030285 MIRN558;hsa-mir-558 APPROVED miscrna 32814 PROVISIONAL 1603114 MIR557 microRNA 557 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.2 141453763 141453860 + 166611385 166611482 + 168344762 168344859 + 16381832;16505370 693142 ABBA01047231;AL022100;AMYH01001486;NR_030284 MIRN557;hsa-mir-557 APPROVED miscrna ENSG00000207974 32813 PROVISIONAL 1603116 MIR555 microRNA 555 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q22 128389285 128389380 - 153582764 153582859 - 155316141 155316236 - 16381832;16505370 693140 ABBA01016707;AL139410;AMYH01001428;NR_030282 MIRN555;hsa-mir-555 APPROVED miscrna 32811 PROVISIONAL 6483956 MIR5580 microRNA 5580 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 54415145 54415202 - 16381832;21911355 100847076 AL138479;AMYH01005742;NR_049843 miscrna ENSG00000266431 43482 PROVISIONAL 1603115 MIR556 microRNA 556 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q23.3 135415415 135415509 + 160578959 160579053 + 162312336 162312430 + 16381832;16505370;17604727 693141 ABBA01047307;AL512785;AMYH01001463;NR_030283 MIRN556;hsa-mir-556 APPROVED miscrna 32812 PROVISIONAL 1603118 MIR553 microRNA 553 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p21.2 99003598 99003665 + 100519384 100519451 + 100746797 100746864 + 16381832;16505370 693138 ABBA01045442;AL663111;AMYH01000825;NR_030279 MIRN553;hsa-mir-553 APPROVED miscrna 32809 PROVISIONAL 6483953 MIR5582 microRNA 5582 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 46774675 46774742 - 16381832;21911355 100847020 ABBA01060730;AC115088;AMYH01003536;NR_049846 miscrna 43461 PROVISIONAL 1603117 MIR554 microRNA 554 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q21.3 124633564 124633659 + 149784895 149784990 + 151518272 151518367 + 16381832;16505370 693139 ABBA01049399;AL365436;AMYH01001389;NR_030280 1670123;1836440;1842936;1927484;1927486;1927488;1927490;1927492;1927494;1927496;1927498;1927500 D1S317E;ECD19382;ECD22676;REN34568;REN34569;REN34570;REN34571;REN34572;REN34573;REN34574;REN34575;REN34576 MIRN554;hsa-mir-554 APPROVED miscrna 32810 PROVISIONAL 6483949 MIR5581 microRNA 5581 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 37966536 37966595 - 16381832;21911355 100847010 ABBA01023276;AL034379;AMYH01000501;NR_049844 miscrna 43527 PROVISIONAL 6483950 MIR5583-1 microRNA 5583-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 37256685 37256743 + 16381832;21911355 100847025 ABBA01022392;AC016205;AMYH01008949;NR_049847 miscrna ENSG00000266148 43491 PROVISIONAL 6483965 MIR5584 microRNA 5584 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 45011165 45011224 + 16381832;21911355 100847089 ABBA01050921;AL596225;AMYH01000566;NR_049849 miscrna 43507 PROVISIONAL 6483944 MIR5583-2 microRNA 5583-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 37256683 37256741 - 16381832;21911355 100846997 ABBA01022392;AC016205;AMYH01008949;NR_049848 miscrna 43471 PROVISIONAL 6483962 MIR5586 microRNA 5586 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 60113680 60113738 - 16381832;21911355 100847088 ABBA01018271;AL121694;AMYH01005765;NR_049851 miscrna 43493 PROVISIONAL 6483951 MIR5585 microRNA 5585 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 32552550 32552608 + 16381832;21911355 100847018 ABBA01023443;AL445248;AMYH01000465;NR_049850 miscrna 43452 PROVISIONAL 6483952 MIR5587 microRNA 5587 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 585316 585368 + 16381832;21911355 100847028 ABBA01030364;AMYH01006995;NR_049852;Z97986 miscrna ENSG00000266124 43508 PROVISIONAL 6483957 MIR5591 microRNA 5591 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 39413530 39413594 + 16381832;21911355 100847065 AC023135;AMYH01014118;NR_049857 miscrna 43531 PROVISIONAL 6483959 MIR5590 microRNA 5590 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 135615390 135615443 + 16381832;21911355 100847069 AC016725;AMYH01011115;NR_049856 miscrna 43541 PROVISIONAL 6483964 MIR5589 microRNA 5589 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 10149030 10149089 + 16381832;21911355 100847093 ABBA01029952;AC020931;AMYH01009466;NR_049855 miscrna ENSG00000266204 43514 PROVISIONAL 1603110 MIR562 microRNA 562 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 226800556 226800650 + 232745606 232745700 + 233037363 233037457 + 19789318;16381832;16505370 693147 ABBA01002024;AC138658;AMYH01011567;NG_032572;NR_030288 MIRN562;hsa-mir-562 APPROVED miscrna 32818 VALIDATED 1603109 MIR563 microRNA 563 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p25.1 15854236 15854314 + 15890281 15890359 + 15915278 15915356 + 6480464 16381832;16505370 693148 ABBA01025136;AC090945;AMYH01013002;NR_030289 2112712 D3S4418 MIRN563;hsa-mir-563 APPROVED miscrna ENSG00000207815 32819 PROVISIONAL 1603111 MIR561 microRNA 561 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q32.1 182757547 182757643 + 188870463 188870559 + 189162219 189162315 + 16381832;16505370;17604727 693146 ABBA01062363;AC104131;AMYH01011343;NR_030287 MIRN561;hsa-mir-561 APPROVED miscrna ENSG00000207951 32817 PROVISIONAL 1603113 MIR559 microRNA 559 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 p21 47443567 47443662 + 47458317 47458412 + 47604814 47604909 + 6480464 19486885;16381832;16505370 693144 AC079775;AMYH01010323;NG_012352;NR_030286 MIRN559;hsa-mir-559 APPROVED miscrna 32815 VALIDATED 2312880 MIR567 microRNA 567 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 q13.2 110230724 110230821 + 111831648 111831745 + 16381832;16505370 693152 ABBA01061667;AC024887;AMYH01013389;NR_030292 MIRN567;hsa-mir-567 APPROVED miscrna 32823 PROVISIONAL 6483913 MIR5681A microRNA 5681a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 75460778 75460852 + 16381832;21980368 100847058 AC102802;NR_049860 miscrna ENSG00000266502 43518 PROVISIONAL 3539737 MIR568 microRNA 568 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 112442688 112442782 - 114035322 114035416 - 16381832;16505370 693153 ABBA01061638;AC093010;AMYH01013399;NR_030293 1649871;1735148 D3S2807E;WI-11339 MIRN568;hsa-mir-568 APPROVED miscrna ENSG00000207770 32824 PROVISIONAL 6483931 MIR5681B microRNA 5681b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 75460785 75460844 - 16381832;21980368 100847091 AC102802;AMYH01018799;NR_049871 miscrna 43538 PROVISIONAL 6483940 MIR5680 microRNA 5680 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 103137660 103137743 + 16381832;21980368 100847001 AMYH01018935;AP001328;NR_049859 miscrna ENSG00000266756 43492 PROVISIONAL 6483902 MIR5682 microRNA 5682 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 120768487 120768562 + 16381832;21980368 100847043 ABBA01016490;AC078857;AMYH01013424;NR_049861 miscrna 43477 PROVISIONAL 1603106 MIR566 microRNA 566 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 50183587 50183680 + 50185762 50185855 + 50210759 50210852 + 6480464 16381832;16505370 693151 ABBA01024554;AC104450;AMYH01013168;NR_030291 1793474 PMC22669P18 MIRN566;hsa-mir-566 APPROVED miscrna 32822 PROVISIONAL 1603108 MIR564 microRNA 564 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.31 44841346 44841439 + 44878383 44878476 + 44903380 44903473 + 6480464 16381832;16505370;22511990 693149 ABBA01024735;AC098649;AMYH01013124;NR_030290 MIRN564;hsa-mir-564 APPROVED miscrna 32820 PROVISIONAL 6483898 MIR5683 microRNA 5683 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6169567 6169642 + 16381832;21980368 100847034 ABBA01022015;AL157775;AMYH01016055;NR_049863 miscrna ENSG00000263572 43453 PROVISIONAL 6483921 MIR5684 microRNA 5684 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 12897942 12898006 + 16381832;21980368 100847071 ABBA01029773;AC018761;AMYH01009496;NR_049864 miscrna ENSG00000263800 43544 PROVISIONAL 6483926 MIR5685 microRNA 5685 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 53141791 53141869 + 16381832;21980368 100847075 ABBA01050539;AL034374;AMYH01016358;NR_049866 miscrna ENSG00000264056 43543 PROVISIONAL 6483928 MIR5688 microRNA 5688 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 85434860 85434942 + 16381832;21980368 100847077 ABBA01031083;AC108700;AMYH01013319;NR_049870 miscrna 43463 PROVISIONAL 6483886 MIR5687 microRNA 5687 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 54804678 54804754 - 16381832;21980368 100847019 ABBA01015742;AC025777;AMYH01015089;NR_049869 miscrna 43457 PROVISIONAL 6483943 MIR5689 microRNA 5689 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 10439950 10440027 + 16381832;21980368 100846998 AL138885;AMYH01016079;NR_049872 miscrna ENSG00000263705 43479 PROVISIONAL 6483901 MIR5690 microRNA 5690 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 35632494 35632566 - 16381832;21980368 100847048 ABBA01038240;AL033519;AMYH01016267;NR_049873 miscrna ENSG00000265527 43490 PROVISIONAL 6483888 MIR5691 microRNA 5691 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 9111859 9111926 - 16381832;21980368;23279374 100847015 ABBA01061201;AC079296;AMYH01003378;NR_049874 miscrna 43545 PROVISIONAL 6483917 MIR5692A1 microRNA 5692a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 97592970 97593038 + 16381832;21980368 100847066 AACC02000086;ABBA01045740;AC004967;AMYH01017710;CH236956;NR_049875 miscrna ENSG00000266318 43533 PROVISIONAL 6483900 MIR5692A2 microRNA 5692a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 12576641 12576699 + 16381832;21980368 100847038 ABBA01021634;AC123777;AMYH01018526;NR_049876 miscrna ENSG00000264512 43466 PROVISIONAL 6483946 MIR5692B microRNA 5692b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 44371038 44371124 - 16381832;21980368 100847013 ABBA01004524;AMYH01012272;AP001630;NR_049889 miscrna 43535 PROVISIONAL 1603105 MIR569 microRNA 569 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q26.2 169224326 169224421 - 172307146 172307241 - 170824453 170824548 - 6480464 16381832;16505370 693154 ABBA01058669;AC026315;AMYH01013646;NR_030295 MIRN569;hsa-mir-569 APPROVED miscrna 32825 PROVISIONAL 6483890 MIR5692C2 microRNA 5692c-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 97593717 97593793 - 16381832;21980368 100847017 AACC02000086;ABBA01045740;AC004967;AMYH01017710;CH236956;NR_049868 miscrna ENSG00000266668 43448 PROVISIONAL 6483941 MIR5693 microRNA 5693 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 51922703 51922775 - 16381832;21980368 100847003 ABBA01051048;AL137780;AMYH01005116;NR_049878 miscrna ENSG00000266072 43499 PROVISIONAL 6483945 MIR5696 microRNA 5696 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 101925912 101925996 + 16381832;21980368 100847007 ABBA01073912;AC073643;AMYH01010814;NR_049881 miscrna ENSG00000264857 43516 PROVISIONAL 6483889 MIR5695 microRNA 5695 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 13031134 13031218 + 16381832;21980368 100847016 ABBA01029763;AC092069;AMYH01009497;NG_033049;NR_049880 miscrna ENSG00000266721 43548 REVIEWED 6483924 MIR5692C1 microRNA 5692c-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 135138674 135138764 - 16381832;21980368 100847082 ABBA01068722;AC011431;AMYH01015630;NR_049867 miscrna ENSG00000265924 43506 PROVISIONAL 6483919 MIR5694 microRNA 5694 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 67908572 67908647 - 16381832;21980368 100847064 ABBA01023712;AL139785;AMYH01005814;NR_049879 miscrna ENSG00000265993 43530 PROVISIONAL 6483909 MIR5697 microRNA 5697 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 10027439 10027516 + 16381832;21980368 100847055 ABBA01035579;AL357140;AMYH01000242;NG_032954;NR_049882 miscrna ENSG00000265521 43509 PROVISIONAL 6483897 MIR5698 microRNA 5698 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 154076997 154077068 - 16381832;21980368 100847024 AL513546;AMYH01001409;NR_049883 miscrna 43487 PROVISIONAL 6483934 MIR5699 microRNA 5699 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 687629 687718 - 16381832;21980368 100847086 ABBA01035265;AL358216;AMYH01001970;NR_049884 miscrna 43456 PROVISIONAL 6483915 MIR5701-1 microRNA 5701-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 21145581 21145662 + 16381832;21980368 100847060 AC037471;AMYH01006254;NR_049886 miscrna ENSG00000266545 43522 PROVISIONAL 6483893 MIR5700 microRNA 5700 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 94955565 94955635 + 16381832;21980368 100847031 ABBA01053362;AC023161;AMYH01004662;NR_049885 miscrna ENSG00000266099 43521 PROVISIONAL 6483947 MIR5701-2 microRNA 5701-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 22156766 22156847 + 16381832;21980368 100847005 ABBA01209868;AC183089;AMYH01006357;NR_049895 miscrna ENSG00000264902 43510 PROVISIONAL 6483910 MIR5702 microRNA 5702 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 227523426 227523509 - 16381832;21980368 100847053 ABBA01050193;AC079402;AMYH01011538;NR_049887 miscrna ENSG00000263363 43503 PROVISIONAL 6483907 MIR5704 microRNA 5704 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 131704699 131704775 - 16381832;21980368 100847040 ABBA01059191;AC076961;AMYH01013501;NR_049890 miscrna ENSG00000265859 43469 PROVISIONAL 6483894 MIR5707 microRNA 5707 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 158384308 158384388 + 16381832;21980368 100847032 AACC02000071;ABBA01032318;AC093662;AMYH01018208;CH236954;NR_049893 miscrna ENSG00000265598 43449 PROVISIONAL 6483925 MIR5706 microRNA 5706 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 118490332 118490411 + 16381832;21980368 100847085 ABBA01068978;AC118465;AMYH01015576;NR_049892 miscrna 43500 PROVISIONAL 6483896 MIR5705 microRNA 5705 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 88221647 88221735 - 16381832;21980368 100847027 AC108516;AMYH01014374;NR_049891 miscrna ENSG00000263981 43504 PROVISIONAL 6483929 MIR5703 microRNA 5703 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 228336848 228336903 + 16381832;21980368 100847081 ABBA01050182;AC097662;AMYH01011542;NR_049888 miscrna ENSG00000266382 43475 PROVISIONAL 6483908 MIR5708 microRNA 5708 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 81153624 81153708 + 16381832;21980368 100847056 ABBA01004067;AC104212;AMYH01018825;NR_049894 miscrna ENSG00000265588 43511 PROVISIONAL 1603104 MIR570 microRNA 570 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 196911451 196911547 + 195426272 195426368 + 6480464 16381832;16505370;17604727;23430453 693155 ABBA01007598;AC069513;AC233280;AMYH01013789;NR_030296 MIRN570;hsa-mir-570 APPROVED miscrna ENSG00000207650 32826 614538 PROVISIONAL 3539736 MIR574 microRNA 574 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 38869653 38869748 + 6480464 22180294;16381832;16505370;17604727;17616659;21258252;22344312;23133627;23133646;22683180 693159 AC108044;AMYH01014117;NR_030300 1695688 SHGC-78730 MIRN574;hsa-mir-574 APPROVED miscrna ENSG00000207944 32830 PROVISIONAL 1603103 MIR571 microRNA 571 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p16.3 285657 285752 + 333945 334040 + 343946 344041 + 6480464 16381832;16505370;22412969 693156 ABBA01019327;AC079140;AMYH01013832;NR_030297 MIRN571;hsa-mir-571 APPROVED miscrna 32827 PROVISIONAL 1603100 MIR575 microRNA 575 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q21.22 80965505 80965598 - 83893513 83893606 - 83674490 83674583 - 6480464 16381832;16505370 693160 ABBA01063442;AC073413;AMYH01014356;NR_030301 MIRN575;hsa-mir-575 APPROVED miscrna 32831 PROVISIONAL 1603099 MIR576 microRNA 576 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 107703771 107703868 + 110629302 110629399 + 110409854 110409951 + 6480464 16381832;16505370;17604727 693161 ABBA01063776;AC105314;AMYH01014456;NG_032166;NR_030302 MIRN576;hsa-mir-576 APPROVED miscrna 32832 VALIDATED 1603098 MIR577 microRNA 577 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q26 112871366 112871461 + 115797363 115797458 + 115577915 115578010 + 16381832;16505370 693162 ABBA01063846;AC122938;AMYH01014475;NR_030303 MIRN577;hsa-mir-577 APPROVED miscrna 32833 PROVISIONAL 1603097 MIR578 microRNA 578 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 q32.3 163642825 163642920 + 166526843 166526938 + 166307394 166307489 + 6480464 16381832;16505370 693163 ABBA01070291;AC012504;AMYH01014673;NR_030304 MIRN578;hsa-mir-578 APPROVED miscrna 32834 PROVISIONAL 1603102 MIR572 microRNA 572 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p15.33 11834870 11834964 + 10979548 10979642 + 11370451 11370545 + 6480464 16381832;16505370 693157 ABBA01032529;AC006230;AMYH01014000;NR_030298 2189115 G65141 MIRN572;hsa-mir-572 APPROVED miscrna ENSG00000207716 32828 PROVISIONAL 1603101 MIR573 microRNA 573 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p15.2 24971221 24971319 - 24130912 24131010 - 24521815 24521913 - 16381832;16505370 693158 ABBA01032683;AC115110;AMYH01014065;NR_030299 MIRN573;hsa-mir-573 APPROVED miscrna ENSG00000207697 32829 PROVISIONAL 1603095 MIR580 microRNA 580 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 p13.2 36033687 36033783 - 36183750 36183846 - 36147994 36148090 - 16381832;16505370;22266852 693165 ABBA01024162;AC008942;AMYH01015025;NG_029643;NR_030306 MIRN580;hsa-mir-580 APPROVED miscrna ENSG00000207756 32836 VALIDATED 1603096 MIR579 microRNA 579 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 p13.3 32276195 32276292 - 32430240 32430337 - 32394484 32394581 - 6480464 16381832;16505370;17604727;21562054 693164 ABBA01066742;AC008949;AMYH01014997;NR_030305 MIRN579;hsa-mir-579 APPROVED miscrna 32835 PROVISIONAL 1603090 MIR585 microRNA 585 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q35.1 164726768 164726862 - 168623182 168623275 - 168690605 168690698 - 16381832;16505370 693170 ABBA01044111;AC112165;AMYH01015800;NG_033081;NR_030311 1780734 bac51858T MIRN585;hsa-mir-585 APPROVED miscrna 32841 VALIDATED 1603089 MIR586 microRNA 586 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p21.1 46718110 46718206 - 45273388 45273484 - 45165411 45165507 - 19259136;16381832;16505370;21687927 693171 ABBA01050632;AL138880;AMYH01016325;NR_030313 MIRN586;hsa-mir-586 APPROVED miscrna 32842 PROVISIONAL 1603092 MIR583 microRNA 583 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q15 91293649 91293723 + 95440597 95440671 + 95414842 95414916 + 16381832;16505370 693168 ABBA01069243;AC104123;AMYH01015490;NR_030309 MIRN583;hsa-mir-583 APPROVED miscrna ENSG00000207578 32839 PROVISIONAL 1603093 MIR582 microRNA 582 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q12.1 55939701 55939798 - 59035188 59035285 - 58999432 58999529 - 6480464 16381832;16505370;17604727;17616659 693167 ABBA01015796;AC117527;AMYH01015106;NG_027957;NR_030308 MIRN582;hsa-mir-582 APPROVED miscrna 32838 VALIDATED 1603087 MIR588 microRNA 588 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q22.32 127548064 127548146 + 126847469 126847551 + 126805777 126805859 + 16381832;16505370 693173 ABBA01025943;AL356534;AMYH01016650;NR_030316 MIRN588;hsa-mir-588 APPROVED miscrna ENSG00000207632 32844 PROVISIONAL 1603088 MIR587 microRNA 587 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 q21 107852568 107852663 + 107338692 107338787 + 107232000 107232095 + 16381832;16505370 693172 ABBA01026191;AL080314;AMYH01016568;NR_030314 MIRN587;hsa-mir-587 APPROVED miscrna ENSG00000207577 32843 PROVISIONAL 1603091 MIR584 microRNA 584 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q32 144523931 144524027 - 148422068 148422164 - 148441876 148441972 - 6480464 16381832;16505370;17604727;17616659;19665576;21119662;23479725;22536353 693169 ABBA01026312;AC011364;AMYH01015700;NG_007947;NR_030310 MIRN584;hsa-mir-584 APPROVED miscrna 32840 VALIDATED 1603094 MIR581 microRNA 581 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q11.2 50200951 50201046 - 53283090 53283185 - 53247334 53247429 - 16381832;16505370 693166 ABBA01015723;AC024571;AMYH01015086;NR_030307 MIRN581;hsa-mir-581 APPROVED miscrna 32837 PROVISIONAL 1603086 MIR589 microRNA 589 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 p22.1 5495738 5495836 - 5501975 5502073 - 5535450 5535548 - 16381832;16505370;17604727;23118514 693174 ABBA01039458;AC092171;AMYH01017003;NR_030318 MIRN589;hsa-mir-589 APPROVED miscrna 32845 PROVISIONAL 1603084 MIR591 microRNA 591 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 90548852 90548946 - 95686909 95687003 - 95848974 95849068 - 6480464 16381832;16505370 693176 AACC02000013;ABBA01045773;AC096775;AMYH01017701;CH236949;NR_030322 MIRN591;hsa-mir-591 APPROVED miscrna 32847 PROVISIONAL 1603085 MIR590 microRNA 590 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q11.23 69084962 69085058 + 73243463 73243559 + 73605528 73605624 + 6480464 16381832;16505370;17604727;21548758 693175 ABBA01063907;AC005057;AMYH01017543;NR_030321 MIRN590;hsa-mir-590 APPROVED miscrna 32846 615070 PROVISIONAL 1603083 MIR592 microRNA 592 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q31.33 121499469 121499565 - 126485377 126485473 - 126698142 126698238 - 6480464 16381832;16505370 693177 AACC02000001;ABBA01057690;AC000364;AMYH01017910;CH236947;NG_029532;NR_030323 1816644;1821956;1844340;2084280;2084282;2084284;2084286;2084288;2084290;2084292;2084294;2084296;2084298;2196258 ECD09365;ECD12064;ECD23384;REN113388;REN113389;REN113390;REN113391;REN113392;REN113393;REN113394;REN113395;REN113396;REN113397;stSG613364 MIRN592;hsa-mir-592 APPROVED miscrna 32848 VALIDATED 1603081 MIR595 microRNA 595 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q36.3 152750977 152751072 - 158018170 158018265 - 158325410 158325505 - 6480464 16381832;16505370 693180 AACC02000071;ABBA01032319;AC078942;AMYH01018206;CH236954;NG_029966;NR_030325 MIRN595;hsa-mir-595 APPROVED miscrna 32851 VALIDATED 1603082 MIR593 microRNA 593 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q32.1 122525316 122525415 + 127509148 127509247 + 127721913 127722012 + 16381832;16505370;17604727;21170987 693178 AACC02000001;ABBA01057679;AC008039;AMYH01017915;CH236947;NR_030324 MIRN593;hsa-mir-593 APPROVED miscrna 32849 PROVISIONAL 1603080 MIR596 microRNA 596 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.3 1708793 1708869 + 1752803 1752879 + 1765397 1765473 + 6480464 16381832;16505370;23233740 693181 ABBA01016746;AC019257;AMYH01018279;NR_030326 MIRN596;hsa-mir-596 APPROVED miscrna ENSG00000207826 32852 PROVISIONAL 1603079 MIR597 microRNA 597 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.1 8723191 8723287 + 9636591 9636687 + 9599182 9599278 + 6480464 16381832;16505370;17604727 693182 ABBA01026900;AC103834;AMYH01018471;NR_030327 MIRN597;hsa-mir-597 APPROVED miscrna 32853 PROVISIONAL 1603078 MIR598 microRNA 598 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 p23.1 10020573 10020669 - 10930125 10930221 - 10892716 10892812 - 6480464 16381832;16505370;17604727 693183 ABBA01026885;AC105108;AMYH01018478;NR_030328 MIRN598;hsa-mir-598 APPROVED miscrna 32854 PROVISIONAL 1603073 MIR603 microRNA 603 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 24256561 24256657 + 24604619 24604715 + 24564614 24564710 + 6480464 16381832;16505370 693188 ABBA01034453;AC063961;AMYH01002192;NR_030334 1705694 SHGC-83428 MIRN603;hsa-mir-603 APPROVED miscrna 32859 PROVISIONAL 1603077 MIR599 microRNA 599 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q22.2 96734598 96734692 - 100618039 100618133 - 100548864 100548958 - 16381832;16505370 693184 ABBA01037556;AC026827;AMYH01018922;NR_030329 MIRN599;hsa-mir-599 APPROVED miscrna ENSG00000207804 32855 PROVISIONAL 1603075 MIR601 microRNA 601 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 96813036 96813114 - 125204624 125204702 - 126164804 126164882 - 6480464 19889580;16381832;16505370 693186 ABBA01043728;AL445489;AMYH01021699;NR_030332 MIRN601;hsa-mir-601 APPROVED miscrna 32857 PROVISIONAL 1603076 MIR600 microRNA 600 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q33.3 96522094 96522191 - 124913645 124913742 - 125873825 125873922 - 16381832;16505370 693185 ABBA01043719;AL365338;AMYH01021696;NR_030331 MIRN600;hsa-mir-600 APPROVED miscrna ENSG00000207740 32856 PROVISIONAL 1603074 MIR602 microRNA 602 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q34.3 111259168 111259265 + 139852691 139852788 + 140732871 140732968 + 6480464 20364114;16381832;16505370 693187 ABBA01022787;AL611925;AMYH01021918;NR_030333 MIRN602;hsa-mir-602 APPROVED miscrna ENSG00000207693 32858 PROVISIONAL 1603068 MIR608 microRNA 608 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q24.31 96472463 96472562 + 102724731 102724830 + 102734742 102734841 + 19851984;19138993;22606253;22586447;16381832;16505370;20732906 693193 ABBA01063213;AL133215;AMYH01003002;NR_030339 MIRN608;hsa-mir-608 APPROVED miscrna 32864 PROVISIONAL 1603072 MIR604 microRNA 604 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p11.23 29598993 29599086 - 29873938 29874031 - 29833933 29834026 - 6480464 19851984;19138993;16381832;16505370;20585341;20732906 693189 ABBA01034364;AL160060;AMYH01002214;NR_030335 MIRN604;hsa-mir-604 APPROVED miscrna 32860 PROVISIONAL 1603067 MIR609 microRNA 609 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q25.1 99719386 99719480 - 105968536 105968630 - 105978547 105978641 - 16381832;16505370 693194 ABBA01063087;AL139341;AMYH01003033;NR_030340 1688054 RH15646 MIRN609;hsa-mir-609 APPROVED miscrna 32865 PROVISIONAL 1603070 MIR606 microRNA 606 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q22.2 70601473 70601568 + 76982221 76982316 + 77312216 77312311 + 6480464 16381832;16505370 693191 ABBA01020252;AL589863;AMYH01002842;NR_030337 MIRN606;hsa-mir-606 APPROVED miscrna ENSG00000207583 32862 PROVISIONAL 1603071 MIR605 microRNA 605 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q21.1 46322022 46322104 + 52729338 52729420 + 53059333 53059415 + 16381832;16505370;21217645;21976437;21671485 693190 ABBA01052499;AC069079;AMYH01002738;NG_029982;NR_030336 MIRN605;hsa-mir-605 APPROVED miscrna 32861 VALIDATED 1603066 MIR610 microRNA 610 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p14.1 28224247 28224341 + 28034937 28035032 + 28078362 28078457 + 6480464 16505370;16381832;22189055 693195 AC090159;AMYH01003457;NR_030341 MIRN610;hsa-mir-610 APPROVED miscrna ENSG00000207874 32866 612330 PROVISIONAL 1603069 MIR607 microRNA 607 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 92329999 92330094 - 98578415 98578510 - 98588426 98588521 - 6480464 16381832;16505370 693192 AL162502;AMYH01002974;NR_030338 MIRN607;hsa-mir-607 APPROVED miscrna ENSG00000207976 32863 PROVISIONAL 1603065 MIR611 microRNA 611 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q12.2 58895379 58895445 - 61316542 61316608 - 61559967 61560033 - 16381832;16505370;21829377 693196 ABBA01003206;AMYH01003683;AP002380;NR_030342 MIRN611;hsa-mir-611 APPROVED miscrna 32867 PROVISIONAL 2312878 MIR615 microRNA 615 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 q13.13 54077351 54077446 + 54427734 54427829 + 6480464 16381832;16505370;17604727;21565892;22819824 693200 ABBA01008362;AC012531;AMYH01004485;NG_029818;NR_030753 1744017 GDB:384845 MIRN615;hsa-mir-615 APPROVED miscrna 32871 VALIDATED 1603063 MIR613 microRNA 613 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.1 18066144 18066238 + 12808849 12808943 + 12917583 12917677 + 6480464 16381832;16505370;21310851;23496987 693198 ABBA01067849;AC007215;AMYH01004292;NR_030344 MIRN613;hsa-mir-613 APPROVED miscrna 32869 PROVISIONAL 1603062 MIR614 microRNA 614 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p13.1 18217615 18217704 + 12960029 12960118 + 13068763 13068852 + 6480464 16381832;16505370 693199 ABBA01067857;AC007688;AMYH01004292;NR_030345 MIRN614;hsa-mir-614 APPROVED miscrna ENSG00000207817 32870 PROVISIONAL 1603064 MIR612 microRNA 612 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q13.1 62538217 62538316 + 64968504 64968603 + 65211929 65212028 + 16381832;16505370;23478189;23077621 693197 ABBA01024118;AMYH01003720;AP000769;NR_030343 1660643 G33121 MIRN612;hsa-mir-612 APPROVED miscrna ENSG00000207727 32868 PROVISIONAL 3516580 MIR620 microRNA 620 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 116215965 116216058 - 116586365 116586459 - 16381832;16505370 693205 ABBA01020001;AC130895;AMYH01004775;NR_030351 1746643 G64564 MIRN620;hsa-mir-620 APPROVED miscrna 32876 PROVISIONAL 1602935 MIR617 microRNA 617 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q21.31 80892495 80892591 - 79750442 79750538 - 81226312 81226408 - 16381832;16505370 693202 ABBA01053490;AC025568;AMYH01004612;NR_030348 MIRN617;hsa-mir-617 APPROVED miscrna 32873 PROVISIONAL 1602933 MIR619 microRNA 619 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q24.11 11640689 11656302 - 107754812 107754910 - 109230684 109230782 - 16381832;16505370 693204 ABBA01053124;AC087893;AMYH01004732;NR_030350 1656154;1787396;1803002;1808510;1817074;1817076;1818080;1820214;1829454;1831464;1838146;2036346;2036348;2036350;2036352;2036354;2036356;2036360;2036362;2036364;2036366;2036368;2036370;2036372;2036374;2036378;2036380;2036382;2036384;2036386;2036390;2036392;2036394;2036406;2036408;2036416;2036418;2036420;2036422;2036424;2036426;2036428;2036432;2036434;2036436;2036444;2036448;2036450;2036452;2036454;2036456;2036458;2036460;2036462;2036466;2036468;2036470;2036800;2036802;2036804;2036806;2036808;2036810;2182107;5494181 DXS8373;ECD02392;ECD05237;ECD09586;ECD09587;ECD10096;ECD11181;ECD15858;ECD16869;ECD20245;G18195;REN89182;REN89183;REN89184;REN89185;REN89186;REN89187;REN89189;REN89190;REN89191;REN89192;REN89193;REN89194;REN89195;REN89196;REN89198;REN89199;REN89200;REN89201;REN89202;REN89204;REN89205;REN89206;REN89212;REN89213;REN89217;REN89218;REN89219;REN89220;REN89221;REN89222;REN89223;REN89225;REN89226;REN89227;REN89231;REN89233;REN89234;REN89235;REN89236;REN89237;REN89238;REN89239;REN89240;REN89242;REN89243;REN89244;REN89409;REN89410;REN89412;REN89413;REN89414;REN89415;SHGC-172421;UniSTS:99378 MIRN619;hsa-mir-619 APPROVED miscrna 32875 PROVISIONAL 1602934 MIR618 microRNA 618 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q21.31 80995674 80995771 - 79853645 79853742 - 81329515 81329612 - 6480464 16381832;16505370;17604727 693203 ABBA01053490;AC068798;AMYH01004614;NR_030349 MIRN618;hsa-mir-618 APPROVED miscrna 32874 PROVISIONAL 1602931 MIR622 microRNA 622 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q31.3 71728871 71728966 + 89681436 89681531 + 90883436 90883531 + 6480464 16381832;16505370;22219177;21528065;22016468 693207 ABBA01027249;AL354915;AMYH01005284;NR_030754 MIRN622;hsa-mir-622 APPROVED miscrna ENSG00000207858 32878 PROVISIONAL 1602932 MIR621 microRNA 621 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q14.11 22442354 22442449 + 40282901 40282996 + 41384902 41384997 + 16381832;16505370 693206 ABBA01021288;AL161614;AMYH01005057;NR_030352 MIRN621;hsa-mir-621 APPROVED miscrna ENSG00000207652 32877 PROVISIONAL 1602936 MIR616 microRNA 616 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q13.3 57568779 57568875 - 56199212 56199308 - 57912946 57913042 - 6480464 16381832;16505370;17604727;21224345 693201 ABBA01026699;AC022506;AMYH01004521;NR_030346 MIRN616;hsa-mir-616 APPROVED miscrna ENSG00000208028 32872 614489 PROVISIONAL 1602930 MIR623 microRNA 623 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 13 q32.3 80851949 80852046 + 98806385 98806482 + 100008385 100008482 + 6480464 16381832;16505370 693208 ABBA01027123;AL136961;AMYH01005326;NR_030353 1782862 SHGC-145779 MIRN623;hsa-mir-623 APPROVED miscrna 32879 PROVISIONAL 1602928 MIR625 microRNA 625 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q23.3 45992924 45993008 + 65007572 65007656 + 65937820 65937904 + 6480464 22617246;16381832;16505370;17604727;22675530;22677169 693210 AL355840;AMYH01005806;NR_030355 MIRN625;hsa-mir-625 APPROVED miscrna ENSG00000207781 32881 PROVISIONAL 1602927 MIR626 microRNA 626 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q15.1 18751742 18751835 + 39771074 39771167 + 41983783 41983876 + 16381832;16505370 693211 ABBA01038392;AC073657;AMYH01006576;NR_030356 MIRN626;hsa-mir-626 APPROVED miscrna 32882 PROVISIONAL 1602925 MIR628 microRNA 628 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q21.3 32553711 32553805 - 53452429 53452523 - 55665138 55665232 - 16381832;16505370;17604727 693213 ABBA01039026;AC018926;AMYH01006666;NR_030358 MIRN628;hsa-mir-628 APPROVED miscrna 32884 PROVISIONAL 1602926 MIR627 microRNA 627 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q15.1 19259467 19259563 - 40279059 40279155 - 42491768 42491864 - 6480464 16381832;16505370;17604727 693212 AC036103;AMYH01006580;NR_030357 MIRN627;hsa-mir-627 APPROVED miscrna 32883 PROVISIONAL 1602923 MIR630 microRNA 630 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q24.1 49764276 49764372 + 70666611 70666707 + 72879558 72879654 + 6480464 16381832;16505370 693215 ABBA01038725;AC100827;AMYH01006762;NR_030359 1646083;1850906;1856906;2148216 A004P07;RH47216;SHGC-34211;SHGC-36787 MIRN630;hsa-mir-630 APPROVED miscrna ENSG00000207690 32886 PROVISIONAL 1602924 MIR629 microRNA 629 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q23 47261117 47261174 - 68158764 68158860 - 70371711 70371807 - 6480464 16381832;16505370;17604727;22114071 693214 AC026583;AC068327;AMYH01006744;NR_030714 MIRN629;hsa-mir-629 APPROVED miscrna 32885 PROVISIONAL 1602929 MIR624 microRNA 624 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q12 11349336 11349432 - 30553602 30553698 - 31483852 31483948 - 6480464 16381832;16505370;17604727;22022480 693209 ABBA01061408;AL049830;AMYH01005639;NR_030354 MIRN624;hsa-mir-624 APPROVED miscrna 32880 PROVISIONAL 1602922 MIR631 microRNA 631 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q24.2 52572391 52572465 - 73433004 73433078 - 75645952 75646026 - 6480464 19138993;16381832;16505370;20732906 693216 ABBA01060522;AC068338;AMYH01006814;NR_030360 1646966 WI-12510 MIRN631;hsa-mir-631 APPROVED miscrna ENSG00000207636 32887 PROVISIONAL 1602921 MIR632 microRNA 632 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q11.2 27587344 27587437 + 27701240 27701333 + 30677128 30677221 + 6480464 16381832;16505370;22710984 693217 ABBA01000712;AC005899;AMYH01008336;NR_030362 1701474;1734468 D17S1432E;RH104369 MIRN632;hsa-mir-632 APPROVED miscrna ENSG00000207928 32888 PROVISIONAL 1602918 MIR635 microRNA 635 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q24.2 62992158 62992255 - 63932186 63932283 - 66420592 66420689 - 16381832;16505370 693220 ABBA01028960;AC007780;AMYH01008589;NG_007093;NR_030365 2146667 RH16580 MIRN635;hsa-mir-635 APPROVED miscrna 32891 PROVISIONAL 1342495 MIR600HG MIR600 host gene (non-protein coding) 9 9 9 q33.3 96520042 96526031 - 124911594 124916052 - 125871773 125877756 - 737633;6480464 12477932 15489334;15164053;14702039;17974005;19322201 81571 ABBA01043719;AF251293;AI699420;AJ420426;AK025814;AK123844;AL365338;AMYH01021696;BC015678;BC034918;BX648949;CR749230;NR_026677 AAG44593;ABM83736;ABM87055;CAH18086 Hs.708072;Hs.733860 1673983;1774040;2126464;2136611 RH12370;RH18474;WI-15856;WI-21191 C9orf45;DKFZp779O012;FLJ22161;GL012;NCRNA00287 APPROVED miscrna ENSG00000236901 23642 12960 VALIDATED 1602916 MIR637 microRNA 637 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.3 3898553 3898651 - 3912411 3912509 - 3961412 3961510 - 16381832;16505370;21880893;21809363 693222 ABBA01002860;AC011488;AMYH01009319;NR_030367 MIRN637;hsa-mir-637 APPROVED miscrna 32893 PROVISIONAL 1602920 MIR633 microRNA 633 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q23.2 55409803 55409900 + 58375307 58375404 + 61021576 61021673 + 16381832;16505370;22249270;23077021;21518471;23436656 693218 ABBA01035336;AC005972;AMYH01008548;NR_030363 1724681 RH121345 MIRN633;hsa-mir-633 APPROVED miscrna ENSG00000207552 32889 PROVISIONAL 1602919 MIR634 microRNA 634 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q24.2 61355884 61355980 + 62213651 62213747 + 64783190 64783286 + 16381832;16505370 693219 ABBA01029021;AC005918;AMYH01008582;NR_030364 MIRN634;hsa-mir-634 APPROVED miscrna 32890 PROVISIONAL 2312877 MIR638 microRNA 638 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 p13.2 10723926 10724025 + 10829080 10829179 + 6480464 16381832;16505370;22048643;22295894;23155245 693223 ABBA01029900;AC011475;AMYH01009479;NR_030368 MIRN638;hsa-mir-638 APPROVED miscrna 32894 PROVISIONAL 1602917 MIR636 microRNA 636 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 q25.1 71324905 71325003 - 72244126 72244224 - 74732532 74732630 - 16381832;16505370;17604727 693221 ABBA01028731;AC005837;AMYH01008649;NG_032905;NR_030366 2167324 D4S2570E MIRN636;hsa-mir-636 APPROVED miscrna 32892 VALIDATED 4888821 MIR642B microRNA 642b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 46178190 46178266 - 16381832;20459774 100500845 AC006132;AMYH01009855;NR_037512 APPROVED miscrna 38902 PROVISIONAL 2312876 MIR644A microRNA 644a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q11.22 29803595 29803688 + 33054130 33054223 + 6480464 16381832;16505370;23091630 693229 ABBA01019192;AL109923;AMYH01011862;NR_030374 MIR644;MIRN644;hsa-mir-644;hsa-mir-644a APPROVED miscrna 32900 PROVISIONAL 6483955 MIR644B microRNA 644b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 153996871 153996931 + 16381832;21911355 100847052 ABBA01029081;AC109993;AMYH01023318;NR_049842 miscrna 43501 PROVISIONAL 1602915 MIR639 microRNA 639 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.12 14534508 14534605 + 14501354 14501451 + 14640355 14640452 + 6480464 16381832;16505370 693224 ABBA01029663;AC009004;AMYH01009533;NG_028336;NR_030369 MIRN639;hsa-mir-639 APPROVED miscrna ENSG00000207707 32895 VALIDATED 1602910 MIR645 microRNA 645 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.13 45906611 45906704 + 48635729 48635822 + 49202323 49202416 + 6480464 16381832;16505370 693230 ABBA01052781;AL133230;AMYH01011973;NR_030375 1850380 G27961 MIRN645;hsa-mir-645 APPROVED miscrna ENSG00000208018 32901 PROVISIONAL 1602914 MIR640 microRNA 640 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.11 19449939 19450034 + 19406871 19406966 + 19545872 19545967 + 16381832;16505370 693225 ABBA01051332;AC092067;AMYH01009609;NR_030370 MIRN640;hsa-mir-640 APPROVED miscrna ENSG00000207821 32896 PROVISIONAL 1602909 MIR646 microRNA 646 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 55624184 55624277 + 58316926 58317019 + 58883532 58883625 + 6480464 20306291;16381832;16505370 693231 ABBA01005951;AL035070;AMYH01012031;NR_030376 MIRN646;hsa-mir-646 APPROVED miscrna ENSG00000207802 32902 PROVISIONAL 1602913 MIR641 microRNA 641 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.2 37587906 37588004 - 45480289 45480387 - 40788450 40788548 - 6480464 16381832;16505370 693226 ABBA01040748;AC118344;AMYH01009800;NR_030371 MIRN641;hsa-mir-641 APPROVED miscrna ENSG00000207631 32897 PROVISIONAL 1602912 MIR642A microRNA 642a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 42984308 42984404 + 50870025 50870121 + 46178186 46178282 + 16381832;16505370;17604727 693227 AC006132;AMYH01009855;NR_030372 MIR642;MIRN642;hsa-mir-642;hsa-mir-642a APPROVED miscrna 32898 PROVISIONAL 1602908 MIR647 microRNA 647 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59257844 59257939 - 62044427 62044522 - 62573984 62574079 - 6480464 16381832;16505370 693232 ABBA01021433;AL118506;AMYH01012095;NR_030377 MIRN647;hsa-mir-647 APPROVED miscrna 32903 PROVISIONAL 1602911 MIR643 microRNA 643 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49834606 49834702 + 57476861 57476957 + 52785050 52785146 + 16381832;16505370 693228 ABBA01068259;AC010320;AMYH01009954;NR_030373 MIRN643;hsa-mir-643 APPROVED miscrna 32899 PROVISIONAL 1602013 MIR650 microRNA 650 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 q11.22 21495269 21495364 + 23165270 23165365 + 6480464 21352815;16381832;16505370;20381459;22234685;22767438 723778 ABBA01055095;AMYH01012639;D87021;NG_000002;NR_030755 MIRN650;hsa-mir-650 APPROVED miscrna ENSG00000207836 32906 PROVISIONAL 1601676 MIR653 microRNA 653 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q21.3 87816577 87816672 - 92950007 92950102 - 93112072 93112167 - 6480464 16381832;16505370;17604727 724023 AACC02000014;ABBA01045790;AC003078;AMYH01017691;CH236949;NR_030388 MIRN653;hsa-mir-653 APPROVED miscrna 32909 PROVISIONAL 1601674 MIR655 microRNA 655 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81571948 81572044 + 100585639 100585735 + 101515887 101515983 + 16381832;16505370;17604727 724025 ABBA01048514;AL132709;AMYH01006017;NR_030391 MIRN655;hsa-mir-655 APPROVED miscrna ENSG00000207646 32911 PROVISIONAL 1602907 MIR648 microRNA 648 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q11.21 2083313 2083406 - 16843633 16843726 - 18463634 18463727 - 16381832;16505370 693233 ABBA01001426;AC016027;AMYH01012440;NR_030378 MIRN648;hsa-mir-648 APPROVED miscrna ENSG00000207780 32904 PROVISIONAL 1601677 MIR652 microRNA 652 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q23 109778191 109778288 + 109185212 109185309 + 109298557 109298654 + 6480464 16381832;16505370;17604727;22412969 724022 ABBA01043437;AL360224;AMYH01022840;NR_030381 MIRN652;hsa-mir-652 APPROVED miscrna 32908 PROVISIONAL 1602906 MIR649 microRNA 649 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 4879767 4879863 - 19718464 19718560 - 21388465 21388561 - 16381832;16505370 693234 ABBA01015432;AC002472;AMYH01012540;NR_030379 MIRN649;hsa-mir-649 APPROVED miscrna ENSG00000207575 32905 PROVISIONAL 1601673 MIR656 microRNA 656 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81589123 81589200 + 100602813 100602890 + 101533061 101533138 + 6480464 16381832;16505370;22219177 724026 ABBA01048514;AL132709;AMYH01006017;NR_030392 MIRN656;hsa-mir-656 APPROVED miscrna ENSG00000207959 32912 PROVISIONAL 1601675 MIR654 microRNA 654 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81562613 81562693 + 100576308 100576388 + 101506556 101506636 + 6480464 16381832;16505370;17604727 724024 ABBA01048514;AL132709;AMYH01006017;NR_030390 MIRN654;hsa-mir-654 APPROVED miscrna ENSG00000207934 32910 PROVISIONAL 1601671 MIR658 microRNA 658 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.1 22042053 22042152 - 36570224 36570323 - 38240279 38240378 - 16381832;16505370 724028 ABBA01055490;AMYH01012757;NR_030395;Z97630 MIRN658;hsa-mir-658 APPROVED miscrna ENSG00000207945 32914 PROVISIONAL 1602012 MIR651 microRNA 651 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p22.31 12270827 12270923 + 8055005 8055101 + 8095006 8095102 + 16381832;16505370;17604727 723779 ABBA01029324;AC097626;AMYH01022061;NR_030380 MIRN651;hsa-mir-651 APPROVED miscrna ENSG00000207628 32907 PROVISIONAL 1601672 MIR657 microRNA 657 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 q25.3 76713670 76713767 - 79099076 79099173 - 6480464 18602895;16381832;16505370;23175432 724027 ABBA01032125;AC115099;AMYH01008706;NG_029981;NR_030394 MIRN657;hsa-mir-657 APPROVED miscrna 32913 VALIDATED 1601669 MIR660 microRNA 660 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.23 53847076 53847172 + 49664588 49664684 + 49777849 49777945 + 6480464 16381832;16505370;17604727 724030 ABBA01063309;AC231645;AF222686;AMYH01022324;NR_030397 MIRN660;hsa-mir-660 APPROVED miscrna 32916 PROVISIONAL 1601670 MIR659 microRNA 659 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.1 22045450 22045546 - 36573630 36573726 - 38243685 38243781 - 6480464 18723524;16381832;16505370 724029 ABBA01055490;AMYH01012757;NR_030396;Z97630 MIRN659;hsa-mir-659 APPROVED miscrna ENSG00000207696 32915 613556 PROVISIONAL 2312910 MIR664 microRNA 664 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 193593091 193593172 - 220373880 220373961 - 16381832;18285502 100302234 ABBA01048081;AL445435;AMYH01001742;NG_015837;NR_031705 2185717 STS-R82814 MIRN664;hsa-mir-664 APPROVED miscrna 35370 PROVISIONAL 3497334 MIR663B microRNA 663b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 126733887 126734001 - 133014539 133014653 - 6480464 16381832;17989710 100313824 ABBA01028222;AC097532;AMYH01011109;NR_031608 MIRN663B APPROVED miscrna ENSG00000221288 35270 PROVISIONAL 1601668 MIR661 microRNA 661 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.3 141333421 141333509 - 145091346 145091434 - 145019359 145019447 - 20543867;16381832;16505370;19584269 724031 ABBA01005235;AC109322;AMYH01019120;NR_030383 MIRN661;hsa-mir-661 APPROVED miscrna 32917 613716 PROVISIONAL 2290240 MIR665 microRNA 665 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81395190 81395261 + 100411122 100411193 + 101341370 101341441 + 6480464 16381832;16954537;17604727 100126315 ABBA01048517;AL117190;AMYH01006015;NR_030617 MIRN665;hsa-mir-665 APPROVED miscrna 33662 PROVISIONAL 3516312 MIR670 microRNA 670 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 43728153 43728250 + 43581206 43581303 + 16381832;16954537;18215311 100313777 ABBA01060778;AC023085;AMYH01003519;NR_031577 hsa-mir-670 APPROVED miscrna ENSG00000211568 37304 PROVISIONAL 1601667 MIR662 microRNA 662 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.3 1020070 1020164 + 760183 760277 + 820183 820277 + 16381832;16505370 724032 ABBA01030345;AL031258;AMYH01007006;NR_030384 1657293 RH71325 MIRN662;hsa-mir-662 APPROVED miscrna ENSG00000207579 32918 PROVISIONAL 1601666 MIR663A microRNA 663a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 p11.1 26205305 26205397 - 26136821 26136913 - 26188822 26188914 - 6480464 22393947;16381832;16505370;20514450;21378144;21518431;22042811;22776647;23155245 724033 ABBA01005168;AL121904;AMYH01011821;NR_030386 MIR663;MIRN663;hsa-mir-663;hsa-mir-663a APPROVED miscrna ENSG00000207985 32919 PROVISIONAL 2290266 MIR668 microRNA 668 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81577656 81577721 + 100591347 100591412 + 101521595 101521660 + 6480464 16381832;16954537 768214 ABBA01048514;AL132709;AMYH01006017;NR_030408 MIRN668;hsa-mir-668 APPROVED miscrna 33135 PROVISIONAL 2290267 MIR671 microRNA 671 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q36.1 145492866 145492983 + 150566439 150566556 + 150935507 150935624 + 6480464 16381832;16954537;17604727;21964070;21649547 768213 AACC02000108;ABBA01035160;AC021097;AMYH01018144;NG_029468;NR_030407 2107009;2149938;2181139 CSGlcA-T__4645.2;G33154;STS-R51978 MIRN671;hsa-mir-671 APPROVED miscrna 33134 615245 VALIDATED 2290195 MIR675 microRNA 675 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 p15.5 2057119 2057191 - 1974564 1974636 - 2017989 2018061 - 6480464 19926638;20529846;16381832;17237358;18402656;22527881;21471143 100033819 ABBA01012169;AC051649;AMYH01003318;NR_030533 1667082;1794252;1798828;1804702;2090442;2090444;2090446;2090448;2090450;2090452;2090454;2090456;2090458;2111942;2216610;7184789;7185918 D11S4727;D11S813E;ECD00254;ECD03283;H19;PMC310880P1;REN116498;REN116499;REN116500;REN116501;REN116502;REN116503;REN116504;REN116505;REN116506;stSG548622 MIRN675;hsa-mir-675 APPROVED miscrna 33351 PROVISIONAL 2290222 MIR708 microRNA 708 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q14.1 76422187 76422274 - 78790713 78790800 - 79113066 79113153 - 6480464 16381832;17604727;17616659;22723308;23568547;21852381;22552290;22573352;23328481 100126333 ABBA01017397;AMYH01003833;AP001838;NR_030598 MIRN708;hsa-mir-708 APPROVED miscrna ENSG00000211997 33654 PROVISIONAL 4888781 MIR676 microRNA 676 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X 69242707 69242773 + 6480464 16381832;20224791;20498841 100500887 AL158141;AMYH01022522;NR_037494 hsa-mir-676 APPROVED miscrna 38880 PROVISIONAL 1344921 MIR7-2 microRNA 7-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q26.1 65555945 65556054 + 86956059 86956168 + 89155056 89155165 + 19135553;12624257;16381832;17604727;17616659;23135998 407044 ABBA01053000;AC013489;AJ550392;AMYH01006909;NR_029606 MIRN7-2;hsa-mir-7-2;mir-7-2 APPROVED miscrna ENSG00000207703 31639 PROVISIONAL 1348311 MIR7-3 microRNA 7-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 p13.3 4708560 4708669 + 4721681 4721790 + 4770682 4770791 + 19135553;12624257;16381832;17604727;17616659;23135998 407045 ABBA01056045;AC006537;AJ550393;AMYH01009345;NR_029607 MIRN7-3;hsa-mir-7-3;mir-7-3 APPROVED miscrna ENSG00000207630 31640 PROVISIONAL 3497324 MIR711 microRNA 711 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 48572077 48572152 - 48616335 48616410 - 16381832;18215311 100313843 ABBA01024644;AC121252;AMYH01013151;NR_031756 hsa-mir-711 APPROVED miscrna 37316 PROVISIONAL 2312936 MIR720 microRNA 720 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 162458741 162458850 + 164059129 164059238 + 16381832;18230126;21649547 100302198 AC117411;NR_031712 MIRN720;hsa-mir-720 APPROVED miscrna 35375 PROVISIONAL 3516305 MIR718 microRNA 718 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 153519076 153519145 - 153285371 153285440 - 16381832;18215311 100313781 AMYH01023305;NG_007107;NR_031757;U52112 1748039;1802118;1807816;2035082;2035084;2035086;2035088;2035090;2035092;2035094;2035096;2035098;2035100 ECD01941;ECD04883;G65801;REN88550;REN88551;REN88552;REN88553;REN88554;REN88555;REN88556;REN88557;REN88558;REN88559 hsa-mir-718 APPROVED miscrna ENSG00000211524 37317 PROVISIONAL 1351622 MIR7-1 microRNA 7-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q21.32 57155676 57155785 - 85774482 85774591 - 86584663 86584772 - 6480464 19135553;18922890;18483236;18086561;12624257;20819078;20889907;16381832;17604727;17616659;20813671;23373996;21912531;22614005;23223022;23384942;22675342;22705304;23135998;22853714 407043 ABBA01034012;AJ550391;AL354733;AMYH01021463;NG_029577;NR_029605 MIRN7-1;hsa-mir-7-1;mir-7-1 APPROVED miscrna 31638 615239 VALIDATED 3516307 MIR759 microRNA 759 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 13 13 34370070 34370160 + 53384185 53384275 + 6480464 20677013;16381832;16954537;18215311 100313778 ABBA01037066;AL139085;AMYH01005126;NR_031582 hsa-mir-759 APPROVED miscrna ENSG00000211579 37307 PROVISIONAL 3497330 MIR762 microRNA 762 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 29392438 29392517 - 30905224 30905306 + 6480464 16381832;16954537;18215311 100313837 ABBA01042067;AC135048;AMYH01007499;NR_031576 hsa-mir-762 APPROVED miscrna ENSG00000211591 37303 PROVISIONAL 3497320 MIR761 microRNA 761 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 50588633 50588691 - 52302016 52302074 - 6480464 16381832;16954537;18215311 100313892 ABBA01074787;AL589663;AMYH01000618;NR_031580 hsa-mir-761 APPROVED miscrna 37305 VALIDATED 3497329 MIR764 microRNA 764 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X 114309102 114309186 + 113873918 113874002 + 16381832;16954537;18215311;22407479 100313838 ABBA01053593;AC007025;AC233299;AMYH01022851;NR_031581 hsa-mir-764 APPROVED miscrna ENSG00000212100 37306 PROVISIONAL 2290260 MIR765 microRNA 765 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q23.1 129977154 129977267 - 155172546 155172659 - 156905923 156906036 - 6480464 16381832;16954537 768220 ABBA01016641;AL356104;AMYH01001441;NR_030527 1664946 RH64623 MIRN765;hsa-mir-765 APPROVED miscrna 33141 PROVISIONAL 2290208 MIR760 microRNA 760 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p22.1 92563575 92563654 + 94084975 94085054 + 94312388 94312467 + 6480464 16381832;16954537;17604727 100126348 ABBA01045519;AL049796;AMYH01000805;NR_030621 MIRN760;hsa-mir-760 APPROVED miscrna ENSG00000211575 33666 PROVISIONAL 2290268 MIR758 microRNA 758 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81548389 81548476 + 100562109 100562196 + 101492357 101492444 + 6480464 16381832;16954537;17604727;21885853 768212 ABBA01048514;AL132709;AMYH01006016;NR_030406 MIRN758;hsa-mir-758 APPROVED miscrna ENSG00000211582 33133 PROVISIONAL 2290262 MIR766 microRNA 766 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q24 119235357 119235467 - 118664728 118664838 - 118780701 118780811 - 6480464 16381832;16954537 768218 AC004913;AMYH01022885;NR_030413 MIRN766;hsa-mir-766 APPROVED miscrna 33139 PROVISIONAL 2290242 MIR744 microRNA 744 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 17 17 17 p12 12015760 12015857 + 11925940 11926037 + 11985216 11985313 + 6480464 16381832;16954537;17604727;21991303 100126313 ABBA01055000;AC005410;AMYH01008116;NR_030613 MIRN744;hsa-mir-744 APPROVED miscrna 33658 PROVISIONAL 2290265 MIR767 microRNA 767 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q28 151808698 151808806 - 151312548 151312656 - 151561893 151562001 - 16381832;16954537 768215 ABBA01037311;AC108171;AMYH01023233;NR_030409 MIRN767;hsa-mir-767 APPROVED miscrna ENSG00000211583 33136 PROVISIONAL 2290258 MIR770 microRNA 770 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.2 81372804 81372901 + 100388479 100388576 + 101318727 101318824 + 6480464 16381832;16954537 768222 ABBA01048519;AL117190;AMYH01006015;NR_030528 MIRN770;hsa-mir-770 APPROVED miscrna ENSG00000211574 33143 PROVISIONAL 2290261 MIR802 microRNA 802 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q22.12 22292222 22292315 + 36014882 36014975 + 37093013 37093106 + 6480464 20558762;18952845;16381832;16973894 768219 ABBA01057373;AF015720;AMYH01012220;NG_011402;NR_030414 MIRN802;hsa-mir-802 APPROVED miscrna ENSG00000211590 33140 PROVISIONAL 2290245 MIR875 microRNA 875 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q22.2 96734748 96734823 - 100618189 100618264 - 100549014 100549089 - 6480464 16381832;17604727 100126309 ABBA01037556;AC026827;AMYH01018922;NR_030596 MIRN875;hsa-mir-875 APPROVED miscrna ENSG00000216069 33652 PROVISIONAL 2290213 MIR874 microRNA 874 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q31.2 133106035 133106112 - 137011159 137011236 - 136983261 136983338 - 6480464 19240791;16381832;17604727;17616659;23583374;23558898 100126343 ABBA01068707;AC106775;AMYH01015636;NG_032569;NR_030588 MIRN874;hsa-mir-874 APPROVED miscrna 33643 VALIDATED 2290239 MIR873 microRNA 873 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.1 28817754 28817830 - 28878876 28878952 - 28888877 28888953 - 6480464 16381832;16954537;17604727 100126316 ABBA01065120;AL158072;AMYH01019305;NR_030618 MIRN873;hsa-mir-873 APPROVED miscrna ENSG00000215939 33663 PROVISIONAL 2290263 MIR769 microRNA 769 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.32 43327203 43327320 + 51214029 51214146 + 46522190 46522307 + 16381832;16954537 768217 ABBA01040959;AC007785;AMYH01009858;NR_030412 MIRN769;hsa-mir-769 APPROVED miscrna ENSG00000211580 33138 PROVISIONAL 2290254 MIR886 microRNA 886 5 q31.1 135444075 135444195 - 100126299 AC005219;NR_030583 MIRN886;hsa-mir-886 miscrna 33638 614938 2290241 MIR877 microRNA 877 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 6 6 6 p21.33 32150226 32150311 + 30660087 30660172 + 30552109 30552194 + 6480464 17964270;16381832;16954537;17604727 100126314 ABBA01038049;AL662800;AL662825;AMYH01016205;BX000357;BX119957;BX927220;CR753328;CR759778;NR_030615 MIRN877;hsa-mir-877;miRNA877 APPROVED miscrna 33660 611619 PROVISIONAL 2290244 MIR876 microRNA 876 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 p21.1 28792502 28792582 - 28853623 28853703 - 28863624 28863704 - 6480464 16381832;17604727 100126310 ABBA01065120;AL158072;AMYH01019304;NR_030597 MIRN876;hsa-mir-876 APPROVED miscrna ENSG00000215966 33653 PROVISIONAL 2290221 MIR885 microRNA 885 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p25.3 10371636 10371709 - 10411172 10411245 - 10436173 10436246 - 16381832;16954537;17604727;21233845;21687927;23271051 100126334 ABBA01025234;AC090841;AMYH01012969;NR_030614 MIRN885;hsa-mir-885 APPROVED miscrna 33659 PROVISIONAL 2290209 MIR887 microRNA 887 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 p15.1 15958953 15959031 + 15988290 15988368 + 15935291 15935369 + 16381832;16954537;17604727 100126347 ABBA01020654;AC091872;AMYH01014930;NR_030616 MIRN887;hsa-mir-887 APPROVED miscrna 33661 PROVISIONAL 2290211 MIR889 microRNA 889 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 14 14 14 q32.31 81570295 81570373 + 100583990 100584068 + 101514238 101514316 + 16381832;17604727 100126345 ABBA01048514;AL132709;AMYH01006017;NR_030595 MIRN889;hsa-mir-889 APPROVED miscrna ENSG00000216099 33651 PROVISIONAL 2290248 MIR888 microRNA 888 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145388688 145388764 - 144883993 144884069 - 145076302 145076378 - 16381832;17604727 100126306 ABBA01054351;AL445258;AMYH01023160;NR_030592 MIRN888;hsa-mir-888 APPROVED miscrna ENSG00000216005 33648 PROVISIONAL 2290250 MIR890 microRNA 890 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145388179 145388255 - 144883484 144883560 - 145075793 145075869 - 16381832;17604727 100126303 ABBA01054351;AL445258;AMYH01023160;NR_030589 MIRN890;hsa-mir-890 APPROVED miscrna ENSG00000216075 33644 PROVISIONAL 2290249 MIR891B microRNA 891b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145394957 145395035 - 144890262 144890340 - 145082571 145082649 - 16381832;17604727 100126304 ABBA01054350;AL445258;AMYH01023160;NR_030590 MIRN891B APPROVED miscrna ENSG00000216064 33645 PROVISIONAL 2290247 MIR892B microRNA 892b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145391102 145391178 - 144886407 144886483 - 145078716 145078792 - 16381832;17604727 100126307 ABBA01054351;AL445258;AMYH01023160;NR_030593 2185867 RH12068 MIRN892B APPROVED miscrna ENSG00000216098 33649 PROVISIONAL 2290214 MIR892A microRNA 892a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145390573 145390647 - 144885878 144885952 - 145078187 145078261 - 16381832;17604727;22470100 100126342 ABBA01054351;AL445258;AMYH01023160;NR_030584 2185867 RH12068 MIRN892A APPROVED miscrna ENSG00000215943 33639 PROVISIONAL 2290215 MIR891A microRNA 891a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q27.3 145421699 145421777 - 144917003 144917081 - 145109312 145109390 - 6480464 16381832;17604727 100126341 ABBA01054347;AL358174;AMYH01023160;NR_030581 MIRN891A APPROVED miscrna ENSG00000216056 33635 PROVISIONAL 1345298 MIR9-3 microRNA 9-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 15 15 15 q26.1 66313666 66313755 + 87712251 87712340 + 89911248 89911337 + 12007417;20167074;20676129;16381832;17604727;21368052;21917081;22703336;21858175;21931274;22282464 407051 ABBA01053008;AC133637;AMYH01006914;NR_029692 MIRN9-3;hsa-mir-9-3;miRNA9-3 APPROVED miscrna ENSG00000207819 31646 611188 PROVISIONAL 1347128 MIR9-2 microRNA 9-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 5 5 5 q14.3 83855628 83855714 - 87998426 87998512 - 87962671 87962757 - 21931274;12007417;16381832;17604727;20022054;20167074;20624818;21368052;21858175;22407312 407047 ABBA01062136;AC026701;AMYH01015475;NR_030741 2117767 A008L33 MIRN9-2;hsa-mir-9-2;miRNA9-2 APPROVED miscrna ENSG00000207570 31642 611187 PROVISIONAL 2290233 MIR923 microRNA 923 17 q12 30502291 30502345 - 100126322 AC022916 MIRN923;hsa-mir-923 miscrna 33673 1350966 MIR9-1 microRNA 9-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 q22 154656756 154656844 - 156390133 156390221 - 6480464 19531230;19289835;12007417;21562850;16381832;17604727;18686603;19702828;19954362;20102618;20124485;20167074;20173740;20362537;20676129;20806079;20947512;21931274;21225631;23135476;21464588;21569708;22703336;23185366;21858175;22122052;22773185;22805145;23169479;22987275;22840390 407046 ABBA01016658;AL139130;AMYH01001437;NR_029691 MIRN9-1;hsa-mir-9-1;miRNA9-1 APPROVED miscrna 31641 611186 PROVISIONAL 2290207 MIR921 microRNA 921 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 q24.1 139229347 139229402 - 164390603 164390658 - 166123980 166124035 - 16381832;17573847;23133646 100126349 ABBA01047267;AL596087;AMYH01001473;NR_030626 MIRN921;hsa-mir-921 APPROVED miscrna 33671 PROVISIONAL 2290234 MIR922 microRNA 922 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q29 196018061 196018141 - 198885763 198885843 - 197401367 197401447 - 16381832;17573847;23077021 100126321 ABBA01007570;AC024560;AMYH01013808;NR_030627 MIRN922;hsa-mir-922 APPROVED miscrna ENSG00000216042 33672 PROVISIONAL 2290235 MIR920 microRNA 920 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 p12.1 29512153 29512227 + 24256621 24256695 + 24365355 24365429 + 19048628;19931512;16381832;17573847 100126320 ABBA01068001;AC087322;AMYH01004331;NG_029612;NR_030625 MIRN920;hsa-mir-920 APPROVED miscrna ENSG00000216192 33670 VALIDATED 2312875 MIR92B microRNA 92b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 q22 128238250 128238345 + 155164968 155165063 + 6480464 18624795;16381832;16505370;17604727;17616659;21030610 693235 ABBA01016713;AL713999;AMYH01001426;NG_029383;NR_030281 MIRN92B;hsa-mir-92b APPROVED miscrna 32920 VALIDATED 2290232 MIR924 microRNA 924 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 18 18 18 q12.3 34013724 34013776 - 35456084 35456136 - 37202087 37202139 - 16381832;17573847 100126323 ABBA01022393;AC099845;AMYH01008948;NR_030628 MIRN924;hsa-mir-924 APPROVED miscrna 33674 PROVISIONAL 1347660 MIR92A2 microRNA 92a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.2 133690401 133690475 - 133131233 133131307 - 133303568 133303642 - 6480464 22563438;20347265;11914277;12554860;12919684;15183728;15325244;15978578;16381832;17604727;17616659;20548249;22772712;22890560 407049 ABBA01042404;AC002407;AF480564;AMYH01022992;NR_029509 MIRN92-2;MIRN92A-2;MIRN92A2 APPROVED miscrna ENSG00000208034 31644 PROVISIONAL 1344413 MIR93 microRNA 93 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 7 7 7 q22.1 94426050 94426129 - 99529326 99529405 - 99691391 99691470 - 6480464 18974142;18328430;11914277;22685420;20956944;12554860;15325244;15978578;16381832;17604727;17616659;19486339;19671678;20167074;20519629;20889907;21402054;21831295;22180714;21959981;22465665;23354160;23111389;23509296;22467200;22581829;22773266 407050 AACC02000084;ABBA01013238;AC073842;AF480531;AF480565;AF480566;AMYH01017726;CH236956;NR_029510 MIRN9;MIRN93;hsa-mir-93;miR-93 APPROVED miscrna 31645 612984 PROVISIONAL 2290206 MIR933 microRNA 933 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 2 2 2 q31.1 169645912 169645988 - 175740606 175740682 - 176032361 176032437 - 16381832;17616659 100126350 ABBA01062204;AC096649;AMYH01011286;NR_030630 MIRN933;hsa-mir-933 APPROVED miscrna ENSG00000215973 33676 PROVISIONAL 1346101 MIR92A1 microRNA 92a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA belongs to a polycistronic miRNA cluster that includes six consecutive mature miRNAs that are derived from a single primary transcript. The mature miRNAs of this cluster are often overexpressed in solid cancers. [provided by RefSeq, May 2012] 13 13 13 q31.3 72850539 72850616 + 90801568 90801645 + 92003568 92003645 + 6480464 22617246;22563438;11914277;12554860;12919684;15183728;15325244;15978578;16381832;17604727;17616659;18632605;19950226;20347265;21383985;21768538;21883694;15126345;21955497;22153007;23355465;22895567 407048 AB176708;ABBA01027235;AF480530;AF480563;AL162375;AMYH01005286;NG_032702;NR_029508 Hs.24115 1668059;1721341 G59670;RH45064 MIR92-1;MIRN92-1;MIRN92A-1;MIRN92A1;miRNA92-1 APPROVED miscrna ENSG00000207968 31643 609422 REVIEWED 2290230 MIR935 microRNA 935 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.42 51525232 51525322 + 59177372 59177462 + 54485561 54485651 + 16381832;17616659 100126325 ABBA01068182;AC008440;NR_030632 1801818;1844586 ECD01790;ECD23507 MIRN935;hsa-mir-935 APPROVED miscrna 33678 PROVISIONAL 2290218 MIR937 microRNA 937 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.3 141208030 141208115 - 144967114 144967199 - 144895127 144895212 - 16381832;17616659 100126338 ABBA01005240;AC105219;AMYH01019117;NG_030583;NR_030633 MIRN937;hsa-mir-937 APPROVED miscrna 33680 VALIDATED 2290231 MIR934 microRNA 934 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X q26.3 135996684 135996766 + 135460702 135460784 + 135633037 135633119 + 16381832;17616659 100126324 ABBA01055922;AMYH01023049;NR_030631;Z97632 MIRN934;hsa-mir-934 APPROVED miscrna 33677 PROVISIONAL 2290205 MIR939 microRNA 939 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 8 8 8 q24.3 141793823 141793904 - 145590171 145590252 - 145619364 145619445 - 22451906;16381832;17616659;21141477 100126351 ABBA01005207;AC233992;AF205589;AMYH01019152;NR_030635 MIRN939;hsa-mir-939 APPROVED miscrna 33682 PROVISIONAL 2290228 MIR938 microRNA 938 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 p11.23 29656197 29656279 - 29931198 29931280 - 29891193 29891275 - 22537748;16381832;17616659 100126327 ABBA01034363;AL160060;AMYH01002215;NR_030634 MIRN938;hsa-mir-938 APPROVED miscrna ENSG00000216035 33681 PROVISIONAL 2290229 MIR936 microRNA 936 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 10 10 10 q25.1 99548528 99548625 - 105797836 105797933 - 105807847 105807944 - 6480464 16381832;17616659 100126326 ABBA01063087;AL138761;AMYH01003033;NR_030760 MIRN936;hsa-mir-936 APPROVED miscrna 33679 PROVISIONAL 2290227 MIR940 microRNA 940 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 16 16 16 p13.3 2536177 2536270 + 2261748 2261841 + 2321748 2321841 + 16381832;17616659 100126328 ABBA01030267;AC009065;AMYH01007057;NR_030636 MIRN940;hsa-mir-940 APPROVED miscrna ENSG00000216095 33683 PROVISIONAL 2290224 MIR942 microRNA 942 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 1 1 1 p13.1 115865873 115865958 + 117438787 117438872 + 117637265 117637350 + 6480464 16381832;17616659 100126331 ABBA01068499;AL391476;AMYH01000972;NR_030640 MIRN942;hsa-mir-942 APPROVED miscrna 33688 PROVISIONAL 2290223 MIR943 microRNA 943 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 p16.3 1900343 1900438 - 1957908 1958001 - 1988111 1988204 - 16381832;17616659 100126332 ABBA01029524;AL132868;AMYH01013873;NR_030641 MIRN943;hsa-mir-943 APPROVED miscrna 33689 PROVISIONAL 2290217 MIR941-2 microRNA 941-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59234770 59234858 + 62021349 62021437 + 62550890 62551006 + 16381832;17616659;19784364 100126339 ABBA01021431;AL118506;AMYH01012095;NG_029805;NG_032854;NR_030638 MIRN941-2 APPROVED miscrna 33685 REVIEWED 2290225 MIR941-4 microRNA 941-4 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 62021651 62021741 + 62551197 62551313 + 16381832;17616659;19784364 100126330 ABBA01021431;AL118506;AMYH01012095;NG_029805;NG_032854;NR_040032 MIRN941-4 APPROVED miscrna 33687 REVIEWED 2290204 MIR941-3 microRNA 941-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 q13.33 62021544 62021632 + 62551085 62551201 + 16381832;17616659;19784364 100126352 ABBA01021431;AL118506;AMYH01012095;NG_029805;NG_032854;NR_030639 MIRN941-3 APPROVED miscrna ENSG00000216195 33686 VALIDATED 2290216 MIR944 microRNA 944 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 q28 187975158 187975245 + 191030404 191030491 + 189547711 189547798 + 16381832;17616659 100126340 ABBA01058341;AC063939;AMYH01013754;NR_030642 MIRN944;hsa-mir-944 APPROVED miscrna 33690 PROVISIONAL 2290226 MIR941-1 microRNA 941-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 20 20 20 q13.33 59235301 59235357 + 62021237 62021325 + 62550778 62550894 + 16381832;17616659;19784364 100126329 ABBA01021431;AL118506;AMYH01012095;NG_029805;NG_032854;NR_030637 MIRN941-1 APPROVED miscrna 33684 REVIEWED 1346798 MIR95 microRNA 95 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 4 4 4 7906745 7906825 - 8057927 8058007 - 8007028 8007108 - 6480464 11914277;22690071;16381832;17604727 407052 ABBA01008684;AC097381;AF480533;AF480567;AMYH01013927;NR_029511 MIRN95;hsa-mir-95;miR-95 APPROVED miscrna 31647 613185 PROVISIONAL 1349808 MIR99A microRNA 99a microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.1 3081546 3081626 + 16833279 16833359 + 17911409 17911489 + 6480464 22024720;11914277;16381832;17604727;17616659;21212412;21878637;21383697;21687694;23173671;23298836;21785383;23292834;22920721 407055 ABBA01057101;AF480537;AF480571;AMYH01012144;AP000962;NR_029514 MIRN99A APPROVED miscrna ENSG00000207638 31650 614509 PROVISIONAL 1351824 MIR99B microRNA 99b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49245400 49245469 + 56887676 56887745 + 52195865 52195934 + 6480464 21212412;12007417;12919684;15634332;15978578;16381832;17604727;17616659;20889907;22232059 407056 ABBA01068265;AC018755;AMYH01009953;NR_029843 MIRN99B APPROVED miscrna ENSG00000207550 31651 614510 PROVISIONAL 1344903 MIRLET7A2 microRNA let-7a-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 11 11 11 q24.1 119177905 119177976 - 121522439 121522510 - 122017230 122017301 - 17437991;11679670;12554860;14573789;15183728;15325244;16381832;17604727;17616659;17989717;19015728;20158877;20889907;21365266;23566834 406882 ABBA01031297;AJ421725;AMYH01004094;AP001359;NR_029477 LET7A2;MIRNLET7A2;let-7a-2 APPROVED miscrna ENSG00000198975 31477 612142 PROVISIONAL 1353923 MIRLET7A3 microRNA let-7a-3 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.31 30416003 30416076 + 44887292 44887365 + 46508629 46508702 + 20809749;17974952;17437991;11679670;12554860;14573789;15183728;15325244;16381832;17604727;17616659;17989717;20158877;20808284;22348059 406883 ABBA01010438;AJ421726;AL049853;AMYH01012854;NR_029478 LET7A3;MIRNLET7A3;let-7a-3 APPROVED miscrna ENSG00000198986 31478 612143 PROVISIONAL 1348805 MIRLET7B microRNA let-7b microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 22 22 22 q13.31 30416940 30417022 + 44888229 44888311 + 46509566 46509648 + 6480464 17437991;11679670;22334139;22391672;22610069;20130213;14573789;15325244;16381832;17604727;17616659;22821209;23236408;22022355;22918121;23249809;22294324;22761738;23029111 406884 ABBA01010438;AJ421727;AL049853;AMYH01012854;NR_029479 LET7B;MIRNLET7B;hsa-let-7b;let-7b APPROVED miscrna ENSG00000207875 31479 611249 PROVISIONAL 1344194 MIR98 microRNA 98 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.22 57414753 57414871 - 53599908 53600026 - 53583184 53583302 - 6480464 19671678;19592657;11914277;22492871;20486857;16381832;17604727;17616659;23188821;21228813;21880462;22867052 407054 ABBA01056435;AC231658;AF480536;AF480570;AL592046;AMYH01022424;NR_029513 MIRN98;hsa-mir-98;miR-98 APPROVED miscrna 31649 300810 PROVISIONAL 1349367 MIR96 microRNA 96 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. The microRNA encoded by this gene has been shown to down-regulate production of FOXO1, FOXO3, and microphthalmia-associated transcription factor-M, resulting in metastasis of certain tumors. Also, point mutations in the seed region of this microRNA are a cause of autosomal dominant, progressive hearing loss. [provided by RefSeq, Mar 2010] 7 7 7 q32.2 124210277 124210354 - 129201767 129201844 - 129414532 129414609 - 6480464;7240710 11914277;19363479;17597072;14757864;22441842;20610624;19574223;19943878;16381832;17604727;17616659;22414602;22864280;21203424;21829531;23637338;21993544;22045813;22038834;20301607;22761336;23459944;23151657;23583389 407053 AACC02000035;ABBA01057625;AC084864;AF480534;AF480568;AMYH01017933;CH236950;NG_023385;NR_029512 DFNA50;MIRN96;hsa-mir-96;miR-96;miRNA96 APPROVED miscrna ENSG00000199158 31648 611606;613074 REVIEWED 1347279 MIRLET7A1 microRNA let-7a-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 q22.32 95978059 95978138 + 96938239 96938318 + 19153603;19136928;19126550;18403645;17957144;17660297;17437991;17220301;16651716;11679670;22596182;22139073;21109987;21412931;20651244;19304520;19508234;19787239;19878981;19966857;20167074;20486857;12554860;14573789;15183728;15325244;16381832;17604727;17616659;17989717;20158877;20639884;21045151;21057545;20418948;20607356;22336344;22965940;21349817;21468030;21530489;20848182;21468581;21598109;22366686;21841313;21602527;21654684;21814544;21873975;22128589;22014978;22018986;21616524;19602040;21853155;21994416;22022355;23042116;22155254;22157959;22289526;21826373;22586040;22972404;23519840;23166734;23246221;20460640;22584434 406881 ABBA01017676;AJ421724;AL158152;AMYH01021521;NR_029476 LET7A1;MIRNLET7A1;let-7a-1 APPROVED miscrna ENSG00000199165 31476 605386 PROVISIONAL 1343706 MIRLET7D microRNA let-7d microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 67382672 67382758 + 95980936 95981022 + 96941116 96941202 + 6480464 17437991;11679670;15325244;16381832;17604727;17616659;20158877;20889907;20410187;22722712;21618519;21725603 406886 ABBA01017676;AJ421729;AL158152;AMYH01021521;NR_029481 1680076;1854219 A008R29;RH94017 LET7D;MIRNLET7D;hsa-let-7d;let-7d APPROVED miscrna ENSG00000199133 31481 612145 PROVISIONAL 1352382 MIRLET7E microRNA let-7e microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 19 19 19 q13.41 49245574 49245652 + 56887850 56887928 + 52196039 52196117 + 6480464 17437991;11679670;15325244;16381832;17604727;17616659;20158877;21969366;22262659 406887 ABBA01068265;AC018755;AJ421730;AMYH01009953;NR_029482 MIRNLET7E;hsa-let-7e;let-7e APPROVED miscrna ENSG00000198972 31482 611250 PROVISIONAL 1350549 MIRLET7F1 microRNA let-7f-1 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 9 9 9 q22.32 67380185 67380271 + 95978449 95978535 + 96938629 96938715 + 17437991;11679670;14573789;15325244;16381832;17604727;17616659;20158877;21447718;21508257;22223664;22262659 406888 ABBA01017676;AJ421731;AL158152;AMYH01021521;NR_029483 LET7F1;MIRNLET7F1;let-7f-1 APPROVED miscrna ENSG00000199072 31483 612146 PROVISIONAL 1345563 MIRLET7C microRNA let-7c microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 21 21 21 q21.1 3082285 3082368 + 16834018 16834101 + 17912148 17912231 + 6480464 19289845;17437991;11679670;22835429;22024720;14573789;16381832;17604727;17616659;20158877;21166724;22917031;19372056;22289550;22128178;22479342;22452878 406885 ABBA01057101;AJ421728;AMYH01012144;AP000962;NR_029480 LET7C;MIRNLET7C;hsa-let-7c;let-7c APPROVED miscrna ENSG00000199030 31480 612144 PROVISIONAL 1352002 MIRN321 microRNA 321 407038 31633 1603112 MIRN560 microRNA 560 693145 AC097532 hsa-mir-560 miscrna 32816 1347408 MIRLET7F2 microRNA let-7f-2 microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] X X X p11.22 57415722 57415804 - 53600877 53600959 - 53584153 53584235 - 17437991;11679670;14573789;15325244;16381832;17604727;17616659;20158877;21508257 406889 ABBA01056435;AC231658;AJ421732;AL592046;AMYH01022424;NR_029484 1705160 SHGC-80022 LET7F2;MIRNLET7F2;let-7f-2 APPROVED miscrna 31484 300721 PROVISIONAL 1603107 MIRN565 microRNA 565 693150 AC098476 hsa-mir-565 miscrna 32821 1344572 MIRLET7G microRNA let-7g microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 3 3 3 p21.1 52281606 52281689 - 52277333 52277416 - 52302294 52302377 - 6480464 19153603;18550544;12007417;16381832;17604727;17616659;20158877;20309945;22821209;21464588;22910415;21815640;22871741;23063642;21868760;22157959;21618519;22135361;22956623 406890 ABBA01024510;AC092045;AMYH01013182;NR_029660 LET7G;MIRNLET7G;hsa-let-7g APPROVED miscrna 31485 612102 PROVISIONAL 2290257 MIRN801 microRNA 801 1 28847697 28847792 + 768223 AL840644 hsa-mir-801 miscrna 33144 2290259 MIRN768 microRNA 768 16 70349795 70349898 - 768221 AC010653 hsa-mir-768 miscrna 33142 6480822 MIS18A-AS1 MIS18A antisense RNA 1 11329013 100874202 AP000266;BG209386 APPROVED miscrna 40106 1348497 MIRLET7I microRNA let-7i microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009] 12 12 12 q14.1 62666013 62666096 + 61283732 61283815 + 62997466 62997549 + 6480464 21625861;17437991;11679670;12007417;16381832;17604727;17616659;17989717;20158877;19903813;22210895;23607629;23454123;23107361 406891 ABBA01026631;AC048341;AMYH01004538;NR_029661 LET7I;MIRNLET7I;hsa-let-7i APPROVED miscrna ENSG00000199179 31486 612148 PROVISIONAL 1347493 MIR7-3HG MIR7-3 host gene (non-protein coding) 19 19 19 p13.3 4706995 4710446 + 4720152 4723570 + 4769117 4772568 + 6480464 16344560;15489334;12477932;11854097 284424 Q8N6C7 AB058892;AB058893;ABBA01056045;AC006537;AMYH01009345;BC090884;BC117294;BC117296;BE671262;CH471139;DB051621;NR_027148 BAB40233;BAB40234;EAW69196;EAW69197;EAW69198;Q8N6C7 Hs.326728 C19orf30;LINC00306;NCRNA00306;PGSF1 APPROVED miscrna ENSG00000176840 30049 16628 VALIDATED 2304161 MIRLET7BHG MIRLET7B host gene (non-protein coding) 22 22 22 q13.31 30389490 30417182 + 44872471 44884554 + 46481877 46509808 + 14702039;8889548;15364908 400931 Q6ZNQ0 ABBA01010438;AK023424;AK130875;AL049853;AL121672;AMYH01012854;BU732454;CH471138;NR_027033 BAC85451;CAI22452;CAO72107;CAO72109;EAW73398;EAW73399 Hs.235838 1650371;1707388;1707496;5021872;5022200;5022651;5116670 D11S2921;L18426;SHGC-84478;SHGC-84548;WI-17620;sY3084;sY3122 FLJ27365;RP4-695O20__B.10 APPROVED miscrna ENSG00000197182 37189 16929 PREDICTED 6482972 MIRLET7DHG MIRLET7D host gene (non-protein coding) 9 q22.32 96938851 96966848 - 12477932;15364901 158257 ABBA01017675;ABBA01017676;AL158152;AL691447;AMYH01021521;BC036695;BC045813;BX088742;NR_046163;NR_046165 Hs.652626 1680076;1737715;1854219;2124485 A008R29;D11S3310;G35335;RH94017 miscrna ENSG00000230262 37186 VALIDATED 1317766 MISP mitotic spindle positioning 19 19 19 p13.3 52059 65229 - 702146 715318 + 751146 764318 + 737633;6480464 12477932 17081983;16565220;16083285;15489334;23509069;23574715;20360068;21139048 126353 Q8IVT2 ABBA01002588;AC004030;AMYH01009201;BC042125;BC052236;BX648389;BX648815;CH471242;NM_173481 AAH42125;AAH52236;EAW61160;NP_775752;Q8IVT2 Hs.439180 1665820 RH48642 C19orf21;DKFZp686H18209 hypothetical protein LOC126353;mitotic interactor and substrate of Plk1;mitotic spindle positioning protein;uncharacterized protein C19orf21 APPROVED protein-coding ENSG00000099812 27000 12695 615289 PROVISIONAL 1602187 MITD1 MIT, microtubule interacting and transport, domain containing 1 2 2 2 q11.2 93990319 94002087 - 99152158 99163924 - 99785726 99797492 - 6480464 17207965;16730941;15815621;15489334;12477932;21926972;21674799;23045692;18029348;23015756;22190034 129531 B8ZZL5;F8WCY2;F8WED5;H7C3Q6;Q8WV92 ABBA01073951;AC092587;AL161992;AMYH01010804;BC018453;CH471127;CQ859758;NM_138798 AAH18453;AAX88928;ADQ31824;CAH10777;CAH25929;EAX01884;EAX01885;EAX01886;EAX01887;NP_620153;Q8WV92 Hs.14222 5016478;5017266;5022651 D11S2921;GDB:434012;L18506 MIT domain-containing protein 1;OTTHUMP00000161218;OTTHUMP00000203297;OTTHUMP00000203468 protein-coding ENSG00000158411 25207 14044 PROVISIONAL 1321877 MIS18A MIS18 kinetochore protein homolog A (S. pombe) 21 21 21 q22.11 18824051 18834897 - 32562401 32573247 - 33640530 33651376 - 6480464 17199038;16303743;15881666;15489334;12477932;12036298;11001876;10830953;10773462;17207965;18029348;21139048;21890473;21906983;17043677;22505724 54069 Q9NYP9 ABBA01057312;AF231921;AF387845;AK075281;AK312073;AMYH01012199;AP000266;AW962893;BC042917;BU567844;BU616573;BU623181;CB959520;CH471079;CQ783409;NM_018944 AAF72945;AAH42917;AAK70498;ADQ32885;BAC11517;BAG35009;CAF86614;EAX09881;NP_061817;Q9NYP9 Hs.190518 1657534;1699338;2127535;2130500 RH103256;SHGC-64862;SHGC-87596;STS-W72814 B28;C21orf45;C21orf46;FASP1;MIS18alpha;hMis18alpha FAPP1-associated protein 1;OTTHUMP00000107699;protein Mis18-alpha APPROVED protein-coding ENSG00000159055 1286 10749 VALIDATED 1320666 MIXL1 Mix paired-like homeobox Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008] 1 1 1 q42.12 199602144 199604274 + 224478006 224480136 + 226411383 226413513 + 1580863;6480464 22164283;18032708;17303500;15982639;12477932;12095687;12070013;22632162 83881 B7ZLF9;Q9H2W2 ABBA01009643;AF211891;AF218357;AL592045;AMYH01001778;BC111974;BC113441;BC143784;CH471098;NM_031944 AAG35776;AAI11975;AAI13442;AAI43785;AAK01479;EAW69778;EAW69779;NP_114150;Q9H2W2 Hs.282079 2110571 MIXL1_2694 MGC138179;MILD1;MIX;MIXL MIX1 homeobox-like protein 1;Mix-like homeobox protein 1;OTTHUMP00000035667;OTTHUMP00000245180;hMix;homeobox protein MIXL1;homeodomain protein MIX;mix.1 homeobox-like protein APPROVED protein-coding ENSG00000185155 13363 10086 609852 PROVISIONAL 7205013 MKI67IPP1 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 1 10 p11.23 30669061 30670050 + 401825 ABBA01034346;AL161651;AMYH01002217;NG_009461 1338503 D1S2892 pseudo 44949 INFERRED 7205117 MKI67IPP2 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 2 5 q35.2 174350049 174351002 + 645398 ABBA01044000;AC008413;AMYH01015835;NG_009465 pseudo 44950 INFERRED 7204810 MKI67IPP3 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 3 12 p13 7756850 7757869 - 100270648 ABBA01012201;AC006927;AMYH01004214;NG_009474 pseudo 44951 INFERRED 7204925 MKI67IPP4 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 4 15 q24.2 75544032 75545320 - 100128707 ABBA01060519;AC068338;AMYH01006804;NG_009467 pseudo 44952 INFERRED 7204911 MKI67IPP5 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 5 15 q26.1 90827555 90828856 - 100128397 ABBA01053051;AC091167;AMYH01006921;NG_009470 pseudo 44953 INFERRED 7204943 MKI67IPP6 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 6 19 q13.41 51899492 51906853 - 100132796 ABBA01068274;AC008750;AMYH01009952;NG_009462 pseudo 44954 INFERRED 7204961 MKI67IPP8 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 8 15 q25.3 85724386 85725356 - 642907 ABBA01052954;AC044860;AMYH01006873;NG_009464 pseudo 44956 INFERRED 1346036 MIS12 MIS12 kinetochore complex component 17 17 17 p13.2 5406624 5410507 + 5330971 5334855 + 5389694 5394131 + 1580863;6480464 14702039;15502821;12515822;16585270;16381901;15489336;15489334;12477932;11230166;11076863;15371340;21353556;11256614;20404110;15824131;22869522;20562864;22371557;20360068;16344560;20231385;21139048;17981135;21199919;21875947 79003 A8K1M4;I3L244;I3L4K6;Q9H081 ABBA01054816;AC004148;AC055839;AK056072;AK289939;AL136906;AMYH01008051;BC000229;CH471108;CR533460;DA182670;DA964146;DB258115;NM_001258217;NM_001258218;NM_001258219;NM_001258220;NM_024039 AAH00229;BAF82628;CAB66840;CAG38491;CAL37850;CAL38435;EAW90328;NP_001245146;NP_001245147;NP_001245148;NP_001245149;NP_076944;Q9H081 Hs.267194 1664712;1847968;2170659 A003N29;A004F08;SHGC-36031 2510025F08Rik;KNTC2AP;MGC2488;MTW1;hMis12 MIS12 homolog;MIS12, MIND kinetochore complex component, homolog;MIS12, MIND kinetochore complex component, homolog (yeast);OTTHUMP00000128206;homolog of yeast Mis12;mis12 homolog (yeast);protein MIS12 homolog APPROVED protein-coding ENSG00000167842 24967 12379 609178 VALIDATED 735982 MITF microphthalmia-associated transcription factor This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 p14.2-p14.1 69871323 70100177 + 69788586 70017488 + 1599944;1599943;1580863;6480464;6484113;6907045;7240710 8589691;10851256 22441367;9647758;10578055;19422606;19320733;19188590;18971960;18829533;18636124;18628967;18595666;18478240;18457359;18451137;18424413;18316599;18284417;18281284;18039926;17975146;17627390;17516926;17464203;17250547;17182868;17159916;16766266;11331755;11230166;11176068;10760582;10694430;10673502;10587587;9918847;9856573;9806910;9700169;9660747;9500554;9440696;9158138;8995290;8659547;8645245;8069297;7969144;7951321;7874167;666627;15716956;15607961;16586042;11350962;16524430;16510564;16489066;16455654;16420247;16411896;16140982;16129781;16001072;15983061;15884099;15715979;15623583;15507434;15489334;15205688;14744763;14737107;13985019;12944398;12819038;12753399;12666593;12663655;12477932;12235125;12204775;12086670;12048204;12032083;11930005;11929831;11818452;11792706;11764295;11751862;11709556;20478267;20485200;20514666;20482673;20513998;16029420;20201954;20644734;20439467;15729346;16344560;19464596;19496784;19659611;19784067;19805117;19895547;20083088;20163701;20379614;20550935;20573688;20952536;20807369;20973930;20099279;20530484;20701798;20801516;21070662;21273305;23098757;21203491;21324898;21358674;21438779;21811243;21610457;21832049;22848661;21362015;21949374;21577209;21796150;21771814;21873430;21797920;22115973;23477830;22496449;22647378;21996743;21693764;21981993;20058232;21887372;22012259;22080950;22523078;19471022;22131883;22196401;21326905;19322201;22258527;22571403;22594792;22898827;23223141;21988832;22848417;22668579;23349796;22833560;23201126;23275444 4286 B4DNC7;C9J845;C9JBI8;C9K0S7;E9PKJ8;Q8WYR3;Q9P2Y8 AB006909;AB006988;AB006989;AB009608;AB032357;AB032358;AB032359;ABBA01030909;ABBA01030910;ABBA01030911;ABBA01030912;ABBA01030913;ABBA01030914;ABBA01030915;AC099326;AC104445;AC104449;AC124915;AF034755;AK291318;AK296129;AK297858;AL110195;AL117653;AMYH01013265;AMYH01013266;AW242257;BC011461;BC012503;BC026961;BC065243;BM800230;BQ219650;BU167035;CH471055;D82874;DA058963;DC388606;GU355676;NG_011631;NM_000248;NM_001184967;NM_001184968;NM_006722;NM_198158;NM_198159;NM_198177;NM_198178;Z29678 AAC39639;AAH26961;AAH65243;ADB90411;BAA32288;BAA95206;BAA95207;BAA95208;BAA95209;BAB83926;BAC16749;BAF84007;BAG58874;BAG60189;CAA82775;CAB53672;EAW65479;EAW65480;EAW65481;EAW65482;EAW65483;EAW65484;NP_000239;NP_001171896;NP_001171897;NP_006713;NP_937801;NP_937802;NP_937820;NP_937821;O75030 Hs.166017;Hs.618266 1670447;1689781;1708362;1710834;1714669;1729053;1735182;1743633;2107395;2129025;5126620;5127706 D3S2825E;D3S3964;GDB:363545;MITF_7830;Mitf;RH119999;RH28674;RH77689;SHGC-77109;SHGC-81156;SHGC-84185;STS-N33393 CMM8;MI;WS2;WS2A;bHLHe32 OTTHUMP00000195123;OTTHUMP00000195138;OTTHUMP00000195139;OTTHUMP00000195140;OTTHUMP00000195142;OTTHUMP00000213867;OTTHUMP00000213868;OTTHUMP00000230787;class E basic helix-loop-helix protein 32;microphthalmia-associated transcription factor APPROVED protein-coding ENSG00000187098 7105 01138 103470;103500;156845;193510;614456 REVIEWED 1313558 MIS18BP1 MIS18 binding protein 1 14 14 14 q21.2 25533645 25583858 - 44742143 44792146 - 45672393 45722605 - 6480464 18029348;17339379;17199038;17081983;16565220;15489334;14702039;12477932;11572484;10976766;20211142;22540025;19322201;21139048;21693764;21890473;21906983;22505724 55320 C9J2Q8;G5E9K5;H0YJM1;H7C1S6;Q6P0N0 AB067490;ABBA01018052;AJ242977;AK002048;AL121809;AMYH01005702;AW971491;BC051885;BC065544;CH471078;NM_018353 AAH51885;AAH65544;BAB67796;CAB45134;EAW65777;EAW65778;EAW65779;EAW65780;NP_060823;Q6P0N0 Hs.732769 1648908;1682818;1695358;1699228;1770544;1852954;2151696;2171217;2185060;5019821;5093428 A009O38;A009Y19;G32712;G32981;G35685;G36123;RH103195;RH46134;RH46491;RH93554;SHGC-68278 C14orf106;FLJ11186;HSA242977;KIAA1903;KNL2;M18BP1 OTTHUMP00000178917;P243;hsKNL-2;kinetochore null 2 homolog;kinetochore-associated protein KNL-2 homolog;mis18-binding protein 1;putative protein p243 which interacts with transcription factor Sp1 APPROVED protein-coding ENSG00000129534 20190 12629 VALIDATED 1313525 MKI67 antigen identified by monoclonal antibody Ki-67 This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009] 10 10 q26.2 129784913 129814645 - 129894923 129924468 - 1580863;2317703;2317706;2317702;2317705;2317704;2317709;2317708;6480464;6483536;6483538;6483517;6483528;6483515;6483529;6483533;6483553;6483519;6483531;6483543;6483545;6483541;6483520;6483521;6483534;6483516;5509078;6483544;6483522;6483523;6483547;6483539;5686413 20350215;9869516;20388395;12903495;20137856;20045412;20367636;21364546;21294775;21880954;22499302;21693493;21536322;22017545;21795350;21576701;22405128;22268182;20919850;21696422;22147251;21440078;22004841;21846355;22302692;22092365;22070864;22262719;21166752;20864405 17975119;22932087;22939959;22990118;21182205;19207951;19195690;19152245;19138978;19130399;19093259;19077408;19032382;19023099;18982746;18949744;18822690;18798062;18778369;18766962;18766188;18762814;18727426;18705408;18690204;18674924;18665038;18572327;18561741;18546942;18516322;18496701;18439942;18374497;18331287;18312749;18301453;18256893;18234277;18165175;18095132;18077791;18038314;18019405;18018472;18005189;11342549;8227122;18029348;19602458;19584075;19559929;19519606;19470936;19436038;19351365;19342238;19291919;19220627;21677540;21478101;15591788;15545971;15452376;15302935;15217948;15214825;15164054;15104289;15068320;15048881;14707453;14674120;14659764;14627346;14582704;12716386;12649825;12647790;12607601;12575534;12532420;12485163;12479099;12434121;12432453;12174912;12125971;12051866;11925591;11857304;11839580;11783017;11759064;11744991;11570981;10878014;10548634;10502411;9087533;8889548;8603106;2571566;2012175;1769665;16260903;11793364;17972530;17923265;17903293;17885492;17848143;17805549;17713095;17695500;17693651;17647192;17594714;17593084;17531085;17525640;17525638;17525627;17490723;17377809;17310847;17296585;17285761;17234468;17227124;17188136;17143016;17081983;17065089;16984615;16964243;16948516;16882345;16804724;16723309;16681683;16629645;16623776;16609045;16574316;16565220;16533178;16479062;16351648;16295759;16255765;16244663;16206250;16171567;16097446;16045773;15964376;15953875;15931389;15871722;15809747;15679862;15638382;15638377;15638357;22300665;22395505;22395508;22452996;20809021;21422198;21524841;22309998;22590818;22639545;22778705;22892062;22901702;19774459;20398247;20487522;20450760;20369584;21097442;21325804;20369488;19157151;21424069;19446313;19854077;21302028;10570175;16385451;16573167;17474147;17545048;17577209;18592370;19019173;19050681;19080002;19102938;19144445;19160064;19162366;19173807;19350669;19351506;19462897;19585492;19593135;19687314;19690760;19690767;19710015;19723039;19773751;19777788;19788614;19818763;19901884;19935641;19946260;19952937;19956635;20001343;20010526;20030864;20030866;20038236;20082479;20095356;20099418;20103652;20103726;20181625;20198771;21058037;20871219;18510217;21111561;20105109;20557372;20686376;20800066;22586326;20840814;20338617;20381119;20414055;20628624;19340613;19394292;19832838;20800603;21045152;21062978;23026928;21210727;17674766;16739374;17225522;20694513;22335622;20598358;21680106;20627009;22575865;23301386;19452712;21642658;21334717;21652010;21753697;21809665;20483025;21840910;22172851;22205326;22675168;23139965;23805466;15848144;20360068;21778791;21610457;21629784;20848772;21655651;21655654;21655657;16196087;21611785;21252943;21937080;22040407;22040408;21792693;22178446;22199292;21738398;21694464;22043024;19596686;21881319;21900206;21572399;19471022;22169637;21979598;21935871;20223108;22419713;22783570;21139048;21693764;21890473;21906983;19389623;22752375;22976139;23000965;21965052;22372356;21354936;21435003;21819622;22125028;22361634;21366896;22126395;22248824;22277792;22890751;20682791;21080107;21371741;22197541;22531522;22520514;20868604;22939629;21145461;22554964;23016458;23244127;22995634;23135572;23184081;23266046;23240716;23359198;14642363;17390041;17464313;18202755;18798277;19082441;20189840;20353905;20442586;20819770;22492957;22542077;23137549;22412018;23382998;23579216;23752268;23030583;22335907;22505724;22631655;22734595;23040923;23235554;23096218;22534537;23042264 4288 P46013;Q70L72 ABBA01009092;AJ567755;AJ567756;AJ567757;AK299254;AL355529;AL390236;AMYH01003173;BM699306;BU632619;BU855841;CH471066;HI179092;NM_001145966;NM_002417;X65550;X65551;X74107;X94762 BAG61285;CAA46519;CAA46520;CAA64388;CAD99005;CAD99006;CAD99007;CBX53854;EAW49177;EAW49178;EAW49179;NP_001139438;NP_002408;P46013 Hs.689823;Hs.80976 1657360;1672292;1761289;1773049;2107397;2139688;2147499;2167520 D10S1202;D10S2184;MKI67_7831;RH1579;SHGC-145292;SHGC-52534;SHGC-63598;STS-R96656 KIA;MIB-1 OTTHUMP00000020739;OTTHUMP00000020740;antigen KI-67;proliferation-related Ki-67 antigen APPROVED protein-coding ENSG00000148773 7107 08902 176741 REVIEWED 7248080 MKLN1-AS2 MKLN1 antisense RNA 2 14702039;16344560 100506881 AACC02000027;ABBA01057562;AC018642;AK054623;AMYH01017942;CH236950;DB039005;XR_108815;XR_108816;XR_108817;XR_108818;XR_110751;XR_110752;XR_110753;XR_110754;XR_113046;XR_113047;XR_113048;XR_113049;XR_171684 Hs.660830 miscrna ENSG00000236753 40374 MODEL 1345947 MKL2 MKL/myocardin-like 2 16 16 16 p13.12 14340460 14536766 + 14072697 14268131 + 14165196 14360630 + 737633;1580863;6480464 12477932 14565952;19198601;18056415;17947237;17081983;15489334;14702039;12944485;12397177;12168954;10574462;17360478;22318606;18029348;20442744;20607705;21102462;17991879;20309963;20881960;22139079 57496 B4DGT8;I3L0U1;I3L2A0;I3L2S3;I3L3Z7;Q9ULH7 AB033069;ABBA01006879;ABBA01006880;AC012626;AC040173;AC130650;AF078853;AK056385;AK057216;AK093577;AK126948;AK127530;AK294765;AMYH01007177;AMYH01007178;AY374297;BC006977;BC016293;BC020644;BC030510;BC034934;BC038834;BC047761;BC050541;BC067270;BC073950;BC107868;BC127941;BC136260;BC171750;BX641041;CH471112;CR749797;NM_014048 AAD44485;AAH34934;AAH47761;AAI27942;AAI36261;AAI71750;AAQ82435;BAA86557;BAC04200;BAG54517;BAG57899;CAH18657;EAW85112;EAW85113;EAW85114;EAW85115;NP_054767;Q9ULH7 Hs.49143 1679481;1736548;1768030;2155474;5016478;5037552 AFMB348XF5;D16S2547E;D8S2279;GDB:434012;RH65002;RH78435 DKFZp686J1745;FLJ31823;FLJ45623;MRTF-B;NPD001 MKL/myocardin-like protein 2;megakaryoblastic leukemia 2;myocardin-related transcription factor B protein-coding ENSG00000186260 29819 17577 609463 VALIDATED 6767228 MKNK1-AS1 MKNK1 antisense RNA 1 1 p33 47004368 47035927 + 14702039 100507423 ABBA01050837;AK097731;AL136373;AMYH01000588;NR_038403 Hs.601863 2166174;2171009;2171011 A001U07;G19651;WI-19607 APPROVED miscrna ENSG00000269956 44129 VALIDATED 1318801 MKKS McKusick-Kaufman syndrome This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 20 20 p12 10333832 10362866 - 10385428 10414887 - 1581208;1582516;1580863;1601414;6480464;7240710 10973251;12107442;15483080 10802661;11256614;19077438;18813213;18094050;17353931;17003356;16381901;15731008;15489336;12837689;12477932;11780052;11567139;11230166;11179009;11076863;16327777;10973238;9467007;16169070;19247371;19876004;20193073;20472660;20801516;19913121;20628086;20301537;20301675;21832049;18029348;16344560;21270763;22500027 8195 B7Z3W9;Q9NPJ1 ABBA01053932;AF075024;AF221992;AF221993;AF275813;AK025741;AK291925;AK296439;AL034430;AL157427;AMYH01011710;BC009180;BC013287;BC028973;BM019257;CH471133;DA209180;NG_009109;NM_018848;NM_170784;NR_072977 AAF73872;AAF73873;AAG23823;AAH28973;BAB15230;BAF84614;BAH12355;CAB75652;CAL37896;EAX10343;EAX10344;EAX10345;NP_061336;NP_740754;Q9NPJ1 Hs.472119;Hs.741430 1722551;2107399;2131085;2159151 G60203;MKKS__7396;RH46023;STS-R67339 BBS6;HMCS;KMS;MKS McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin;OTTHUMP00000030274;OTTHUMP00000162353;bardet-Biedl syndrome 6 protein APPROVED protein-coding ENSG00000125863 7108 05356 209900;236700;604896 REVIEWED 7205281 MKNK2P1 MAP kinase interacting serine/threonine kinase 2 pseudogene 1 10 p11.21 37232987 37233600 - 389948 ABBA01033309;AL390061;AMYH01002250;NG_022142 pseudo 44970 INFERRED 7248244 MKLN1-AS1 MKLN1 antisense RNA 1 (head to head) 12477932;14702039;21908515 378805 AACC02000027;ABBA01057568;ABBA01057569;ABBA01057570;ABBA01057571;ABBA01057572;ABBA01057573;ABBA01057574;ABBA01057575;ABBA01057576;ABBA01057577;ABBA01057578;AC013434;AC016831;AC058791;AI743239;AK125651;AL713664;AMYH01017941;BC039420;BC047367;BC130416;CA412672;CH236950;NR_015431;NR_024153 EAL24082 Hs.649308;Hs.702887;Hs.744176 miscrna ENSG00000231721 26885 VALIDATED 1345364 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.[provided by RefSeq, Jan 2009] 2 2 2 q14.3 115809158 115819140 - 122201024 122210938 - 122484521 122494503 - 1302356;6480464 11342549 21539773;16344560;16244663;15815621;15489334;14659764;12477932;21145461;17891046;22939629;19389623;20360068;21139048;21890473;21628590;22586326;22944692 84365 C9J6C5;C9J808;H7BZL0;Q9BYG3 AB044971;ABBA01032248;AC018737;AK291903;AK299814;AK311033;AMYH01010998;BC012457;BC022990;BC024238;BE671589;CH471103;DA570244;NM_032390 AAH12457;AAH22990;AAH24238;AAY14830;ABM82604;ABM85789;BAB41210;BAF84592;BAG61686;EAW95259;EAW95260;EAW95261;NP_115766;Q9BYG3 Hs.367842 1664204;2116784 A004C36;RH12564 NIFK;Nopp34 MKI67 FHA domain-interacting nucleolar phosphoprotein;OTTHUMP00000162139;OTTHUMP00000203751;hNIFK;nucleolar phosphoprotein Nopp34;nucleolar protein interacting with the FHA domain of pKi-67 APPROVED protein-coding ENSG00000155438 17838 17576 611970 REVIEWED 6481351 MKRN2-AS1 MKRN2 antisense RNA 1 100874000 H3BPM6;H3BSJ0 AC018500 APPROVED miscrna 40375 1312564 MKL1 megakaryoblastic leukemia (translocation) 1 The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. [provided by RefSeq, Jul 2008] 22 22 q13 39136238 39362636 - 40806292 41032690 - 1599948;1580863;6480464 11431691 20889312;14565952;19513752;19198601;19136660;19008859;18694962;18688043;18667423;18477564;18337547;18056415;17947237;17599918;17525332;17287340;17081983;16964243;16710414;16098147;15849773;15489334;15461802;15329155;15302935;14970199;14702039;12944485;12477932;12397177;12168954;12019265;11439182;11344311;10718198;10591208;18710951;19350017;19570815;19724058;17360478;18029348;18036521;20816842;17991879;21330600;23744493;22927943;21965288;22049076;22310353;19471022;21139048;21693764;23062334;23243284;21670154;22139079;22718766 57591 B0QY74;B0QY83;B0QY84;E7ER32;Q969V6 AB037859;ABBA01055602;ABBA01055603;ABBA01055604;ABBA01055605;ABBA01055606;ABBA01055607;ABBA01055608;AF368061;AF448806;AJ297257;AJ297258;AL022238;AL031594;AL713710;AMYH01012788;AMYH01012789;AMYH01012790;AMYH01012791;AMYH01012792;BC021586;BC064620;BC114364;BC115039;BC139730;CH471095;CR456522;NM_020831;Z86090 AAI14365;AAI15040;AAI41654;AAI41656;AAK54721;BAA92676;CAC38826;CAC38827;CAD28507;CAG30408;CAK54553;CAK54852;EAW60382;EAW60383;EAW60384;NP_065882;Q969V6 Hs.654688 1338228;1341060;1665089;1665091;1708816;1729199;1739663;1855995;7187089 A006A20;D22S1120E;D22S279;D22S534;G20649;SGC30681;SHGC-81075;stbK229A8.SP6 BSAC;MAL;MRTF-A MKL/myocardin-like protein 1;OTTHUMP00000199245;OTTHUMP00000199246;OTTHUMP00000199247;RBM15/MKL1 fusion;RNA-binding motif protein 15/megakaryoblastic leukemia-1 fusion protein;basic, SAP and coiled-coil domain;megakaryoblastic leukemia 1 protein;megakaryocytic acute leukemia protein;myocardin-related transcription factor A APPROVED protein-coding ENSG00000196588 14334 10445 606078 VALIDATED 1349875 MKRN3-AS1 MKRN3 antisense RNA 1 q11-q13 10196367;10196367;16344560;19844787;9237260;20301505 10108 DA753755 Hs.628878 FNZ127;MKRN3-AS;MKRN3AS;NCRNA00009;ZNF127AS APPROVED miscrna 12910 603857 1350230 MKRN4P makorin ring finger protein 4, pseudogene X X X p21.1 44832917 44836585 + 40578240 40582108 + 40693507 40697060 + 1580863 21906983 7682 Q13434 ABBA01046772;AC092474;AMYH01022224;NG_004713;U41315 AAA99070;Q13434 1676848 RH98946 MKRN4;MKRNP5;RNF64;ZNF-Xp;ZNF127-Xp;ZNF127L1 APPROVED pseudo 7115 06661 INFERRED 1351036 MKRN5P makorin ring finger protein 5, pseudogene X X X q13 73662914 73665978 - 73295613 73299559 - 73379442 73382506 - 7683 ABBA01059599;ABBA01059600;AL359740;AMYH01022611;NG_000873;U41316 1676848 RH98946 MKRNP1;ZNF-Xq;ZNF127L2 APPROVED pseudo 7117 INFERRED 1352116 MKRN6P makorin ring finger protein 6, pseudogene 6 6 6 p21.2 36967966 36971621 + 35521866 35525721 + 35413987 35417642 + 23610 ABBA01038233;AL022721;AMYH01016267;NG_002786 MKRNP2 APPROVED pseudo 7118 INFERRED 1344748 MKRN7P makorin ring finger protein 7, pseudogene 20 20 20 q13.12 41803715 41805347 - 44525839 44527300 - 45092299 45093931 - 8889548 7686 ABBA01052680;AL031686;AMYH01011943;BU740454;NR_026640 Hs.717103 MKRNP3;ZNF127L5;dJ981L23.2 APPROVED pseudo 7119 PROVISIONAL 1347996 MKRN8P makorin ring finger protein 8, pseudogene 1 1 1 p34.2 41637289 41640098 - 43129352 43130624 - 43355302 43358111 - 10843807 391033 ABBA01050970;AL512353;AMYH01000555;NG_009613 MKRNP4;ZNF127L4 APPROVED pseudo 7120 INFERRED 734391 MKLN1 muskelin 1, intracellular mediator containing kelch motifs Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008] 7 7 7 q32 125545899 125932352 + 130663175 130831931 + 130794855 131181398 + 737629;1580863;6480464 10640805 17353931;18710924;17467196;16344560;15489334;15084145;14702039;12690205;12559565;12477932;11006128;9724633;20038947;20379614;21139048;21906983;19322201 4289 B4DG30;C9J7E8;C9JVL5;C9JWX9;C9JXB0;F8WEY7;Q9UL63 AA284481;AA451916;AACC02000027;ABBA01057559;ABBA01057560;ABBA01057561;ABBA01057562;ABBA01057563;ABBA01057564;ABBA01057565;ABBA01057566;ABBA01057567;ABBA01057568;AC008264;AC009362;AC009783;AC013434;AC018642;AF047489;AF086386;AI928463;AK002024;AK025088;AK074367;AK294384;AK310452;AL162071;AL705061;AL833458;AMYH01017941;AMYH01017942;AMYH01017943;AW505004;BC002834;BC013938;BC067825;BE778355;BU945366;BX537433;BX538253;CB046426;CH236950;CH471070;DA172589;NM_001145354;NM_013255 AAF06698;AAH02834;AAH67825;BAA92042;BAG57641;CAB82407;CAD97675;EAL24081;EAW83781;EAW83782;EAW83783;NP_001138826;NP_037387;Q9UL63 Hs.44693 1336149;1337159;1338271;1655968;1664796;1670931;1705606;1717535;1749025;1749511;1749987;1767664;1772936;1788748;2121207;2132856;2147485;2171768;2175624;2180552;5024605;5092688;5126993;7185446;7186580;7186581 A004O23;A005Q09;D7S1575;D7S1946;D7S2531;D7S2790;D7S2894;D7S2924;D7S2961;D7S3054;D7S649;DXS8011;G32265;GDB:4585556;HSC20C032;RH10996;RH122072;RH128619;RH75489;SHGC-110664;SHGC-111218;SHGC-111692;SHGC-83000 FLJ11162;TWA2 OTTHUMP00000206857;OTTHUMP00000207137;muskelin APPROVED protein-coding ENSG00000128585 7109 16129 605623 VALIDATED 1605115 MKNK1 MAP kinase interacting serine/threonine kinase 1 This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012] 1 1 p33 46795677 46842473 - 47023079 47069966 - 2315047;6480464;6907045 16421520 9155018;9878069;17724079;17590453;16763222;16710414;16479008;16344560;16162500;15581611;15563472;15516979;15489334;15350534;15234964;15220445;14702039;12477932;11463832;11154262;10978317;10859165;10022874;9468497;9155017;8636128;11157753;14499622;19650764;20379614;20936779;20805296;21832049;22454512;17130135;21149447;20686366;22249268;21406405;21576361;21900206;8889548;22227431;21949767 8569 A8K341;B4E1V9;E9PIA0;E9PII5;E9PJH1;E9PLE7;E9PMF1;E9PMM8;E9PN34;E9PPI6;E9PQ23;E9PQ26;E9PSC9;E9PSE0;H0YE67;Q7Z319;Q9BUB5 AB000409;AB451300;AB451432;ABBA01050836;ABBA01050837;AK096423;AK290456;AK298839;AK304005;AK310566;AL136373;AMYH01000588;AY355461;BC002755;BG722049;BM665342;BX538193;BX648559;CH471059;DA435648;DA502363;DC366212;DC376088;NG_032029;NM_001135553;NM_003684;NM_198973;NR_024174;NR_024176 AAH02755;AAQ84219;ABM83918;ABM87239;ACE86543;ACE87224;BAA19885;BAF83145;BAG53286;BAG60967;BAG64921;BAG70114;BAG70246;CAD98062;EAX06900;EAX06901;EAX06902;EAX06903;EAX06904;EAX06905;NP_001129025;NP_003675;NP_945324;Q9BUB5 Hs.371594 1667149;2108261;2137616;2166174;2171009;2171011;5015861;5037552;5109281;7185938 A001U07;D10S16;D1S1425;D1S3299;D8S2279;G19651;G34810;MKNK1_8834;WI-19607 MNK1 MAP kinase interacting kinase 1;MAP kinase signal-integrating kinase 1;MAP kinase-interacting serine/threonine kinase 1;MAP kinase-interacting serine/threonine-protein kinase 1;MAPK signal-integrating kinase 1;OTTHUMP00000009674;OTTHUMP00000009675;OTTHUMP00000009676;OTTHUMP00000009677;OTTHUMP00000231552;OTTHUMP00000231555 APPROVED protein-coding ENSG00000079277 7110 09468 606724 REVIEWED 1343445 MKS2 Meckel syndrome, type 2 7240710 9758620 26177 7122 603194;608091 1346766 MKS3 Meckel syndrome, type 3 7240710 12384791 282630 29444 209900;216360;607361;610688;613550 1313930 MKNK2 MAP kinase interacting serine/threonine kinase 2 This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011] 19 19 19 p13.3 1972223 1985996 - 1988470 2002243 - 2037470 2051243 - 1580863;2315047;6480464;6907045 16421520 11463832;8415712;16856496;16344560;16216586;15489334;15057824;14702039;12897141;12477932;11154262;11013076;9155017;8889548;16103188;20936779;18299328;21149447;18508592;21988832;22797067;19322201;21906983 2872 B3KS07;B4DEQ4;K7EIN7;K7EK27;K7ELG3;K7ELN0;K7EMP5;Q9HBH9;Q9NV89 AB209074;ABBA01002703;ABBA01002704;AC007136;AF125532;AF237775;AF237776;AK001730;AK023442;AK024347;AK092536;AK097012;AK293742;AK303393;AL137565;AL137615;AL513974;AMYH01009274;BC018345;BC021235;BC073140;BM977403;BU192307;CH471139;DA950743;FB775508;FB775510;HI202980;HI202982;NG_029798;NM_017572;NM_199054 AAD21217;AAF17226;AAG26336;AAG26337;AAH18345;AAH73140;ACE86881;ACE87568;BAA91866;BAD92311;BAG52569;BAG57165;BAG64449;CAB70816;CAV30711;CAV30712;CBX54006;CBX54007;EAW69422;EAW69423;NP_060042;NP_951009;Q9HBH9 Hs.515032 1734646;2182967 D19S642E;RH78432 GPRK7;MNK2 G protein-coupled receptor kinase 7;MAP kinase signal-integrating kinase 2;MAP kinase-interacting serine/threonine-protein kinase 2;MAPK signal-integrating kinase 2;Putative map kinase interacting kinase APPROVED protein-coding ENSG00000099875 7111 05459 605069 REVIEWED 1347564 MKRN1 makorin ring finger protein 1 The Makorin ring finger protein-1 gene (MKRN1) is a highly transcribed, intron-containing source for a family of intronless mammalian genes encoding a novel class of zinc finger proteins. Phylogenetic analyses indicate that the MKRN1 gene is the ancestral founder of this gene family (Gray et al., 2000 [PubMed 10843807]).[supplied by OMIM, Mar 2008] 7 7 7 q34 134874902 134901432 - 139799320 139825771 - 140152840 140179369 - 1580863;6480464 15231747;18029348;16785614;15489334;12477932;11230166;10843807;19536131;19604354;19846531;20379614;15805468;22864571;23104211;21900206;21139048;21890473;21906983;22505724 23608 C9IY57;C9IZP5;C9J031;C9JYI0;C9JYX8;F5H0I9;F8WAS8;F8WBJ4;F8WEY8;H7C4H5;H7C588;Q9UHW2 AACC02000020;AACC02000021;AACC02000022;AB209298;ABBA01034067;ABBA01034068;ABBA01034069;ABBA01034070;ABBA01034071;AC069335;AF117233;AF192784;AF192789;AF192793;AI828363;AK024987;AK027137;AK127030;AK297361;AK315552;AL136812;AM236048;AMYH01017987;AMYH01017988;BC012398;BC025955;BC037400;BC051821;BC064838;BC127216;CA438497;CH236950;CH471070;NM_001145125;NM_013446 AAF17214;AAF17487;AAF18979;AAH25955;AAH37400;AAH64838;AAI27217;ABM83330;ABW03317;BAD92535;BAG37929;BAG54426;BAG59808;CAB66746;CAJ84705;EAL24026;EAW83949;EAW83950;EAW83951;EAW83952;EAW83953;NP_001138597;NP_038474;Q9UHC7 Hs.490347 1676848;1679860;1735686;1788784;1857811;2156487;2182942;5022578 D1S1423;D7S2143E;G19952;RH10747;RH134570;RH47137;RH98946;WI-19904 FLJ21334;RNF61 E3 ubiquitin-protein ligase makorin-1;OTTHUMP00000212117;OTTHUMP00000212118;OTTHUMP00000212121;OTTHUMP00000212124;RING finger protein 61 APPROVED protein-coding ENSG00000133606 7112 09673 607754 VALIDATED 1322529 MKRN3 makorin ring finger protein 3 The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008] 15 15 15 q11-q13 1971197 1973910 + 21361547 21364653 + 23810454 23813167 + 1580863;6480464 22493164;10196367;16344560;15489334;12477932;19844787;19549727;23000965;20301505;23738509 7681 H3BPL3;H3BUZ8;Q13064;Q6NSB6 ABBA01048679;AC126407;AI939624;AMYH01006477;AW445166;BC044639;BC070293;CH471151;DA495139;NG_012875;NM_005664;U19107 AAC13989;AAH44639;AAH70293;ABZ92516;EAW57608;NP_005655;Q13064 Hs.679587;Hs.72964 1742161;2163410;5015961 D15S1477;GDB:192783;SHGC-35648 CPPB2;D15S9;MGC88288;RNF63;ZFP127;ZNF127 OTTHUMP00000159436;RING finger protein 63;probable E3 ubiquitin-protein ligase makorin-3;zinc finger protein 127 APPROVED protein-coding ENSG00000179455 7114 04836 603856;615346 REVIEWED 1349030 MKRN9P makorin ring finger protein 9, pseudogene 12 12 12 q21.32 87844669 87846492 - 86700071 86702698 - 88176662 88178488 - 12477932 400058 Q6NVV0 ABBA01053429;AC079598;AMYH01004646;BC067894;NR_033410 Q6NVV0 Hs.572212 1788784 RH134570 MKRN5;MKRN9;MKRNP6;RNF65;ZNF127L3 APPROVED pseudo 7116 VALIDATED 1321625 MKRN2 makorin ring finger protein 2 This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 3 3 3 p25 12535907 12563538 + 12573594 12600212 + 12598594 12625212 + 1580863;6480464 11597136;15489334;14702039;12477932;11042152;21048031;19549727;21139048;22118674;23000965;21172006;22493164;22505724 23609 B4DPR4;C9J494;Q9H000 ABBA01025200;ABBA01025201;AC018500;AF277170;AF302084;AK091318;AK298463;AL834512;AMYH01012986;BC001799;BC015715;CH471055;DR157266;NM_001271707;NM_014160 AAG27595;AAG30426;AAH01799;AAH15715;ABM82021;ABM85203;BAG52337;BAG60676;CAD39168;EAW64132;EAW64133;NP_001258636;NP_054879;Q9H000 Hs.591666 1335171;1665813;1671810;1697776;1720305;1742967;1750213;1767656;2146385;2177854;5093796 A009W45;D3S2870E;D3S3701;D3S4000;G15882;G32929;GDB:217154;RH102412;RH123901;SHGC-112307;SHGC-76728 HSPC070;RNF62 OTTHUMP00000207820;OTTHUMP00000207821;OTTHUMP00000207822;RING finger protein 62;makorin RING zinc-finger protein 2;probable E3 ubiquitin-protein ligase makorin-2 APPROVED protein-coding ENSG00000075975 7113 09761 608426 REVIEWED 1313806 MKX mohawk homeobox The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011] 10 10 10 p12.1 27725254 27798252 - 28001809 28074753 - 27961803 28034778 - 737633;6480464 12477932 22542470;16408284;18029348;16344560;16077953;15489334;7829101;20634891;19235719;17207965;20498044;20696843;19322201 283078 H0YKC7;H0YMU2;Q8IYA7 ABBA01034384;AC024606;AK125339;AMYH01002207;AW020078;BC036207;CH471072;DB285243;NG_029181;NM_001242702;NM_173576 AAH36207;ADQ31705;BAG54187;EAW86052;EAW86053;NP_001229631;NP_775847;Q8IYA7 Hs.128193 1736044;1736098;1781252;1851685 D10S1314E;D10S1377E;RH48228;stSG70368 C10orf48;IFRX;IRXL1;MGC39616 Iroquois family related homeodomain protein;OTTHUMP00000019374;homeobox protein Mohawk;iroquois homeobox protein-like 1 APPROVED protein-coding ENSG00000150051 23729 12577 601332 REVIEWED 1352123 MKS1 Meckel syndrome, type 1 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 q22 53637797 53651665 - 56282797 56296966 - 6480464;7240710 16169070;19208769;18327255;17935508;17437276;17397051;17377820;17185389;16415886;15489334;14702039;12477932;7550354;19515853;18337471;21068128;20301537;21906983 54903 A8MPP8;F5H5Y8;H0Y2S2;J3KRR3;J3KRV5;J3KSB7;J3KSC6;J3KSF4;J3QQP4;J9PBQ5;Q9NXB0 ABBA01041328;AC005962;AI208274;AK000352;AK301020;AK310815;AMYH01008511;BC010061;BE327525;CH471109;CR457229;DQ185029;NG_013032;NM_001165927;NM_017777 AAH10061;AAZ94714;BAA91105;BAG62637;CAG33510;EAW94476;EAW94477;EAW94478;NP_001159399;NP_060247;Q9NXB0 Hs.408843 1651323;2190959 MARC_12093-12094:1004642557:1;WI-11807 BBS13;FLJ20345;MES;MKS;POC12 FABB proteome-like protein;Meckel syndrome type 1 protein;OTTHUMP00000165109;OTTHUMP00000165110;OTTHUMP00000165111;POC12 centriolar protein homolog APPROVED protein-coding ENSG00000011143 7121 07900 209900;249000;609883 REVIEWED 1315192 MLANA melan-A 9 9 p24.1 5880909 5899822 + 5890909 5909822 + 1580863;6480464 8170938;19384076;19320733;19317896;18626310;18494818;18337837;18181974;18097665;18091323;17768347;17719062;17227112;17082590;17050671;16814609;15695812;15618925;15489334;15305155;14663359;12925214;12819038;12477932;12444131;12119345;12072203;11854361;8006593;20417641;12191019;19050104;19717472;15703212;21135695;21667026;22820661;21610457;21362015;19861278;21760531;21993558;22050092;22529253;22688397;22190364;22291187;22925930;22768350 2315 Q16655 ABBA01065407;AK312149;AL365360;AMYH01019203;BC014423;CH471071;CR450299;NM_005511;U06452;U06654 AAA19238;AAA20389;AAH14423;ABM83183;ABM86385;BAG35083;CAG29295;EAW58755;EAW58756;NP_005502;Q16655 Hs.154069 1675943;1767159;1796322;5037552 D8S2279;MLANA_186;RH47692;RH98492 MART-1;MART1 OTTHUMP00000021036;OTTHUMP00000021037;OTTHUMP00000021038;antigen LB39-AA;antigen SK29-AA;melanoma antigen recognized by T-cells 1;protein Melan-A protein-coding 7124 09269 605513 VALIDATED 1354476 MLEC malectin 12 12 12 q24.31 120759216 120773932 + 119609332 119624050 + 121124949 121139667 + 1580863;6480464 16751776;18524852;15489334;12477932;8590280;10929008;18303019;20347265;22939629;22988243;19322201;21813736;21139048;21906983 9761 F5GX14;F5H1S8;H0YG07;Q14165 ABBA01020133;AC069234;AK124275;AMYH01004803;BC000371;BC016297;BE622248;BF794298;BQ183402;BU845446;CA423273;CH471054;D63486;DQ585128;NM_014730;U88835 AAH00371;AAH16297;BAA09773;EAW98212;EAW98213;EAW98214;NP_055545;Q14165 Hs.507074 1736284;1850761;1850763;2110929;2115497;2119271;2144497;7185520 A006F12;A006N38;D12S1236E;D12S180E;D12S1915;G20758;WI-16745 KIAA0152 OTTHUMP00000240357;OTTHUMP00000240399;malectin;oligosaccharyltransferase complex subunit (non-catalytic) protein-coding ENSG00000110917 28973 13781 613802 VALIDATED 1318392 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 q13.33 48839947 48866485 - 50497820 50524358 - 1580863;6480464;7240710 11254442;18029348;18330867;18165104;17210142;16652334;16470554;16344560;16001658;15992519;15489334;15461802;15037685;14702039;14615938;12939431;12850517;12665801;12497630;12477932;12189496;12168954;12149273;12111645;11935341;11326298;10591208;10376525;7584028;7584026;10092231;20926452;16712791;20560255;19931615;20301707;21160490;21145992;22416245;15367490;15892299;17628813;21624973;21555057;21890473;21440627;22328087 23209 A6PVC3;B7Z2T9;B7Z659;F5H1B9;J3KQZ9;Q15049 ABBA01011368;ABBA01011369;AF319633;AK124264;AK294048;AK295106;AK297341;AK299841;AL022327;AMYH01012892;BC010518;BC028425;BC070042;BF513319;CB155740;CH471138;CR456460;D25217;DA212966;NG_009162;NM_015166;NM_139202 AAH28425;AAH70042;AAK60119;BAA04947;BAG54023;BAH11657;BAH11975;BAH12555;BAH13145;CAG30346;CAK54442;CAK54741;EAW73490;EAW73491;NP_055981;NP_631941;Q15049 Hs.517729 2116440;2150181;2169501;2176858;2178205;2183086;2187483 IB2001;RH25265;RH77726;STS-D25217;WI-15283;WI-15332;WI-15513 KIAA0027;LVM;MLC;VL OTTHUMP00000196707;OTTHUMP00000196708;OTTHUMP00000196722;membrane protein MLC1 APPROVED protein-coding ENSG00000100427 17082 05800 604004;605908 REVIEWED 6481415 MLIP-AS1 MLIP antisense RNA 1 100873951 AL139389 APPROVED miscrna 40963 1315708 MLF1 myeloid leukemia factor 1 This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 3 3 3 q25.1 156712820 156748018 + 159771678 159805877 + 158288953 158324249 + 1600902;1580863;6480464;7240710 15659732 22193965;12176995;15861129;19023099;17975119;17967869;17854834;16189514;15489334;15116101;14702039;14506644;12477932;8570204;16169070;18029348;20471513;20963938;21139048;21906983;22151054;23271436 4291 B2RD48;C9J3M3;C9JNE5;C9K0D3;C9K0D4;F8VXT4;F8WEY0;P58340;Q2TLE4;Q5HYH4 AA707847;ABBA01058814;ABBA01058815;ABBA01058816;ABBA01058817;ABBA01058818;AC025033;AC106707;AK056948;AK096889;AK297488;AK315402;AMYH01013607;AMYH01013608;AY848700;AY848701;AY848702;BC007045;BC095437;BU619178;BX647666;CH471052;DB455518;L49054;NG_027720;NM_001130156;NM_001130157;NM_001195432;NM_001195433;NM_001195434;NM_022443 AAA99997;AAH07045;AAX46015;AAX46016;AAX46017;BAB71320;BAC04885;BAG37795;BAG59906;CAI46058;EAW78685;EAW78686;EAW78687;EAW78688;EAW78689;EAW78690;NP_001123628;NP_001123629;NP_001182361;NP_001182362;NP_001182363;NP_071888;P58340 Hs.85195 1663468;1698184;2170579 RH102628;SHGC-35682;STS-L49054 OTTHUMP00000213453;OTTHUMP00000213454;OTTHUMP00000213483;OTTHUMP00000213484;OTTHUMP00000213485;OTTHUMP00000213486;OTTHUMP00000213487;OTTHUMP00000213488;OTTHUMP00000213492;OTTHUMP00000213493;OTTHUMP00000213494;myelodysplasia-myeloid leukemia factor 1;myeloid leukemia factor 1;myeloid leukemia factor 1 variant 1;myeloid leukemia factor 1 variant 2;myeloid leukemia factor 1 variant 3 APPROVED protein-coding ENSG00000178053 7125 03239 601402;601626 REVIEWED 6481113 MLIP-IT1 MLIP intronic transcript 1 (non-protein coding) 6 53863688 53871950 + 8889548 100874282 ABBA01050522;AL139389;AMYH01016361;CF890740;NR_046832 Hs.571169 miscrna ENSG00000236996 41461 PREDICTED 1314832 MLF2 myeloid leukemia factor 2 12 12 12 p13 8474453 8479931 - 6727423 6732530 - 6857158 6862636 - 1580863;6480464 17353931;8661158;18029348;18095154;16565220;15489334;12477932;9110174;8619474;20562859;22863883;19875381;16196087;18457437;21139048 8079 A8K1F4;F5H0Y3;F5H7L5;F5H800;Q15773;Q5U0N1 ABBA01017653;AC125494;AF070539;AK289869;AK313998;AMYH01004208;BC000898;BC002340;BI544309;BT019393;BT019432;CH471116;CR541700;NM_005439;NR_026581;U57342 AAB08988;AAC28632;AAH00898;AAH02340;AAV38200;AAV38239;BAF82558;BAG36710;CAG46501;EAW88743;EAW88744;NP_005430;Q15773 Hs.524214 2109519;2151295 MLF2_8777;RH11252 NTN4 OTTHUMP00000239264;OTTHUMP00000240388;OTTHUMP00000240389;OTTHUMP00000240478;myelodysplasia-myeloid leukemia factor 2;myeloid leukemia factor 2 protein-coding ENSG00000089693 7126 03238 601401 VALIDATED 1351736 MLL3P MLL3 pseudogene 387499 23823 1319451 MLH3 mutL homolog 3 (E. coli) This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] 14 14 q24.3 74550220 74587988 - 75480467 75518235 - 1600415;1580863;2306716;6480464;6907045;7240710 11586295;18157157 12095912;10615123;19237606;19156873;19115210;19064572;18723338;18551179;18521850;18364438;17656264;17567544;17494052;17482610;17203173;16981255;16885347;16774946;16344560;16322221;15558497;15193445;12800209;12477932;11317354;11292842;7596406;19762545;19483466;19789190;19808033;20154325;20403997;20437058;20496165;20603073;21150319;23128233 27030 B7Z5D1;G3V384;G3V3E0;G3V419;H0YJ15;H0YJA3;H0YJB4;H0YJU3;Q2M1Z1;Q9UHC1;Q9Y6S7 AB039667;ABBA01030707;ABBA01030708;AC006530;AF195657;AF195658;AK298777;AL049780;AL833875;AMYH01005857;AY963685;BC012544;BC036866;BC112167;BC143729;BX090851;CH471061;DA731365;DA805814;L40399;NG_008649;NM_001040108;NM_014381 AAC42005;AAD30184;AAF23904;AAF23905;AAH36866;AAI12168;AAX59030;ADR83390;BAA92353;BAH12867;CAD38732;EAW81211;EAW81212;EAW81213;EAW81214;EAW81215;NP_001035197;NP_055196;Q9UHC1 Hs.436650 1661470;1663230;1688466;1713955;1715893;2116019;2127074;2134059;2153473;2167671;5017463 D14S946;G35780;RH11245;RH119406;RH122681;RH45234;RH48007;RH68881;RH70143;RH91935;TXP208 HNPCC7;MGC138372 DNA mismatch repair protein Mlh3;OTTHUMP00000246794;OTTHUMP00000246795;OTTHUMP00000246797;mutL protein homolog 3 APPROVED protein-coding ENSG00000119684 7128 05094 114500;604395;608089;614385 REVIEWED 1351502 MLF1IP MLF1 interacting protein The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008] 4 4 q35.1 185852230 185892280 - 185615219 185655286 - 6480464 17595757;17081991;16716197;16622420;16622419;16565220;16287847;15893739;15489334;15116101;15009096;14702039;12941884;12477932;11768657;8889548;19615732;18029348;21056971;21454580;22990118;20360068;21900206;22446962;19471022;21139048;21693764;21890473;23028590 79682 D6R9S4;Q09GN1;Q09GN2;Q71F23 AA761728;ABBA01070517;ABBA01070518;AC079257;AF469667;AF516710;AK027121;AK292297;AMYH01014768;AW440254;BC031520;BC067802;BC107744;BC131556;BC141854;BG031878;BX355581;CH471056;CR457376;DQ907910;DQ907911;NM_024629 AAH31520;AAI07745;AAI31557;AAI41855;AAQ05290;AAQ08228;ABI49142;ABI49143;BAB15665;BAF84986;CAG33657;EAX04666;NP_078905;Q71F23 Hs.575032 1648061;1652339;1675321;1690722;1690832;1771511;2117577;2163671;2176920;5093946 D4S1073;G33016;RH36537;RH67709;RH76703;RH92480;SHGC-35919;SHGC-50366;SHGC-51545;SHGC-68220 CENP-50;CENP-U;CENP-U(50);CENP50;CENPU;CENPU50;FLJ23468;KLIP1;PBIP1 KSHV latent nuclear antigen interacting protein 1;KSHV latent nuclear antigen-interacting protein 1;MLF1-interacting protein;OTTHUMP00000218329;OTTHUMP00000218330;centromere protein U;centromere protein of 50 kDa;interphase centromere complex protein 24;polo-box-interacting protein 1 APPROVED protein-coding 21348 14722 611511 VALIDATED 1349701 MLLT10P1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 1 20 29637584 29638138 - 16344560 140678 ABBA01015425;AL441988;AMYH01011826;DA118653;NR_045115 Hs.653099 MLLT10L;bA348I14.3 APPROVED pseudo 15794 PROVISIONAL 1352072 MLKL mixed lineage kinase domain-like 16 16 16 q23.1 59005422 59027475 - 73263262 73292290 - 74705753 74734789 - 737633;6480464 12477932 17353931;15489334;14702039;12471243;19844255;22265413;22421439 197259 I3L2T9;I3L2U3;I3L4A6;I3L4Z5;Q8NB16 ABBA01058107;ABBA01058108;AC004685;AC109599;AK091708;AK093013;AK122998;AL833362;AMYH01007812;BC028141;BQ575071;CH471114;CQ859712;NM_001142497;NM_152649 AAH28141;BAC03728;CAH25906;CAI46144;EAW95679;NP_001135969;NP_689862;Q8NB16 Hs.119878 1714013;2154709;5016478;5016781 GDB:434012;RH119437;RH69740;SHGC-67307 FLJ34389 mixed lineage kinase domain-like protein protein-coding ENSG00000168404 26617 08752 615153 VALIDATED 5131771 MLK7-AS1 MLK7 antisense RNA 1 2 2 q31.1 167675853 167760178 - 174062440 174146764 - 12477932 339751 ABBA01020747;AC013461;AC092573;AMYH01011272;BC040565;NR_033882 Hs.570083 1675015;1684058;1690384;1697958;2137141;2148274;5093168 A009I04;G32560;RH102508;RH11697;RH69341;RH80553;RH94286 APPROVED miscrna ENSG00000238133 27935 VALIDATED 1345161 MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 19 19 p13.3 6161392 6230959 - 6210392 6279959 - 1580863;6480464 12665591;22483617;17252016;17081983;16433901;7991593;8080983;12477932;11526240;11313972;10995463;8378076;1423624;15856011;20113834;20379614;19956800;18029348;18829457;18829459;20431927;20153263;20854876;21030982;21953510;21873227;21964340;20471948;20471949;21360054;22190034;22355797;22567366 4298 Q03111;Q9NPS2 ABBA01055974;ABBA01055975;ABBA01055976;ABBA01055977;ABBA01055978;AC011471;AF373587;AL365410;AMYH01009370;AMYH01009371;AMYH01009372;BC047008;BC063667;BC084564;CH471139;D14539;L04285;NM_005934 AAA58457;AAI46319;AAI46386;AAI48807;BAA03406;CAB96954;EAW69106;NP_005925;Q03111 Hs.10095 2181228;5493439 UniSTS:486265;WI-20279 ENL;LTG19;YEATS1 ENL/MLL fusion;MLLT1/MLL fusion;YEATS domain-containing protein 1;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1;protein ENL protein-coding 7134 15933 159556 VALIDATED 733729 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] 3 3 p21.3 37009983 37067341 + 37034841 37092337 + 1580863;1625106;1625107;1625108;2293518;2293510;2293517;2293515;2293522;2293514;2293509;2306716;2306714;4143515;6480464;6907045;7240710 15571801;10598809;8829664;15296997;16309235;15338238;15807307;12173039;15870899;16426918;18157157;11900875;19078924 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4292 B7Z821;C9JZ54;E7EUC9;E9PF25;F2Z298;H0Y4N0;H0Y5L7;H0Y5U4;H0Y793;H0Y806;H0Y818;P40692;Q59EG3 AB209848;ABBA01024858;ABBA01024859;ABBA01024860;AC006583;AC011816;AF001359;AK222810;AK295359;AK298324;AK298583;AK302807;AK311326;AK311365;AK312609;AK316074;AK316264;AMYH01013086;AU127758;AY217549;AY344475;AY517558;AY706914;BC006850;BX648844;CH471055;CN414955;DA517219;DQ648888;DQ648889;DQ648890;DQ648891;DQ648892;DQ648893;EU188665;EU188666;EU188667;EU188668;EU188669;EU188670;EU188671;EU188672;EU188673;EU188674;EU188675;EU188676;FB665438;NG_007109;NM_000249;NM_001167617;NM_001167618;NM_001167619;NM_001258271;NM_001258273;NM_001258274;S77856;U07343;U07418;U17839;U17840;U17841;U17842;U17843;U17844;U17845;U17846;U17847;U17848;U17849;U17850;U17851;U17852;U17853;U17854;U17855;U17856;U17857;U40978 AAA17374;AAA82079;AAA85687;AAB34135;AAB58936;AAC50285;AAH06850;AAO22994;AAQ23474;AAT44531;AAU21566;ABG49483;ABG49484;ABG49485;ABG49486;ABG49487;ABG49488;ABW03363;ABW03705;ABW69161;ABW69162;ABW69163;ABW69164;ABW69165;ABW69166;ABW69167;ABW69168;ABW69169;ABW69170;ABW69171;ABW69172;BAD93085;BAD96530;BAG35497;BAG58325;BAG60576;BAG60773;BAH13807;BAH14445;BAH14635;CAR96239;EAW64483;EAW64484;EAW64485;NP_000240;NP_001161089;NP_001161090;NP_001161091;NP_001245200;NP_001245202;NP_001245203;P40692 Hs.195364 1338206;1656298;1728021;1735130;1739451;1739561;1744631;1744633;1788326;1788328;1789837;1789839;1791294;1792302;1792304;1792306;1792308;1792310;1792312;1793564;1793566;1793568;2110573;2143291;2151690;5117410;7184044 D3S1007;D3S1611;D3S2795E;D3S3135;D3S3281;D3S3458;G63281;G67469;G67470;GDB:549088;GDB:549093;GDB:549098;MLH1_2900;PMC100312P1;PMC140684P3;PMC140684P4;PMC140684P5;PMC140684P6;PMC140684P7;PMC140684P8;PMC23037P1;PMC23037P2;PMC23037P3;SHGC-12575;csnphmlh1-pcr17-1;csnphmlh1-pcr8-1 COCA2;FCC2;HNPCC;HNPCC2;MGC5172;hMLH1 DNA mismatch repair protein Mlh1;OTTHUMP00000161361;OTTHUMP00000208782;OTTHUMP00000210160;OTTHUMP00000210161;OTTHUMP00000210162;mismatch repair protein;mutL protein homolog 1 APPROVED protein-coding ENSG00000076242 7127 00390 120436;158320;276300;609310 REVIEWED 1315218 MLIP muscular LMNA-interacting protein 6 6 6 p12.1 55545893 55793289 + 53991673 54239037 + 53883714 54131078 + 6480464 16344560;15489334;14702039;14574404;12477932;12218070;11282395;11222402;11160357;10975868;21498514;20379614;22001757 90523 A6NDT1;D6R9R6;D6RD42;D6RE05;D6RHX6;E2QRH6;E9PCK9;E9PFJ4;H0Y8L5;Q5VWP3 ABBA01050517;ABBA01050518;ABBA01050519;ABBA01050520;ABBA01050521;ABBA01050522;AF235573;AF235775;AF317593;AJ408433;AK055530;AK294797;AK294890;AK311190;AK316157;AL139389;AL359380;AL365328;AMYH01016361;AY006110;BC009010;BX091237;BX113168;BX647567;CH471081;DA761851;DC322019;NM_001281746;NM_001281747;NM_138569 AAG15613;AAH09010;AAK07575;AAK13703;AAK13905;ACT64431;BAB70942;BAH11888;BAH11916;BAH14528;CAC27625;EAX04433;EAX04434;EAX04435;EAX04436;NP_001268675;NP_001268676;NP_612636;Q5VWP3 Hs.449276;Hs.591803 1726625;1758319;2144233;2145482;2180047 D6S1325;D6S1914;G62547;SHGC-148047;SHGC-32607 C6orf142;FLJ54673;FLJ79056;MGC18257 OTTHUMP00000016638;OTTHUMP00000217922;OTTHUMP00000217923;OTTHUMP00000217935;hypothetical protein LOC90523;muscle-enriched A-type lamin interacting protein;muscular LMNA-interacting protein;muscular-enriched A-type laminin-interacting protein APPROVED protein-coding ENSG00000146147 21355 12853 614106 VALIDATED 1352975 MLLT4-AS1 MLLT4 antisense RNA 1 (head to head) 6 6 6 q27 168941632 168944538 - 167967419 167970325 - 168224570 168227476 - 6480464 10382971;14702039 653483 Q9Y6Z5 AB016898;ABBA01000417;AK091690;AK301419;AL009178;AMYH01016865;CH471051;DC331926;DC427335;NG_029689;NR_027906 BAA78633;BAC03721;BAG62948;EAW47487;Q9Y6Z5 Hs.520556 C6orf124;HGC6.4;dJ431P23.3 APPROVED miscrna ENSG00000198221 21236 VALIDATED 1354387 MLNR motilin receptor Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011] 13 13 q14-q21 48692475 48694514 + 49794474 49796513 + 1580863;6480464 10381885;18420306;18183601;18032475;16531413;15057823;12606621;12054506;11461914;11322507;11259768;10644557;9441746;16754659;15452121;20424473;22465164;23142315 2862 O43193 ABBA01051015;AF034632;AL137000;AMYH01005107;AY603964;CH471075;NG_029790;NM_001507 AAC26081;AAI48476;AAT35806;EAX08813;NP_001498;O43193 Hs.248126 2109365 GPR38_2830 GPR38;MTLR1 G protein-coupled receptor 38;G-protein coupled receptor 38;OTTHUMP00000018402;motilin receptor APPROVED protein-coding ENSG00000102539 4495 04197 602885 REVIEWED 1322026 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 10 10 p12 21863108 22072560 + 21823101 22032559 + 1598771;1580863;6480464 7662954 7888665;18029348;18037964;17868029;16215946;15851025;15164054;14702039;12482966;12477932;12453419;12127405;11774384;11756182;11423977;10997963;10860745;22064352;9737689;12750376;19913121;20628086;15856011;19443658;20431927;20854876;21804547;19322201;17043677;21030982;21706055;20963938;23535730 8028 E9PBP4;H0Y5C4;H0Y5P4;P55197;Q59EQ6;Q5JT35;Q6N002 AB209755;ABBA01034488;ABBA01034489;ABBA01034490;ABBA01034491;ABBA01034492;ABBA01034493;ABBA01034494;ABBA01034495;ABBA01034496;AF060929;AF060934;AF060935;AF060936;AF060937;AF060938;AK128264;AK301213;AK310803;AL137295;AL161799;AL357372;AL358780;AL359697;AMYH01002173;AMYH01002174;AY598745;BC032532;BC052798;BC065376;BC080577;BC094844;BC129946;BX640774;BX648210;CH471072;NG_027818;NM_001195626;NM_001195627;NM_001195628;NM_001195630;NM_004641;U13948 AAA79972;AAC16701;AAC16706;AAC16707;AAC16708;AAC16709;AAC16710;AAH80577;AAI56207;AAI56950;AAT47519;BAD92992;BAG62788;CAE45872;CAI46260;EAW86161;EAW86162;EAW86163;EAW86164;EAW86165;NP_001182555;NP_001182556;NP_001182557;NP_001182559;NP_004632;P55197 Hs.30385 1298317;1651791;1658407;1658409;1681384;1697780;1709148;1722013;1771329;1797864;1852699;1852845;1854645;1856233;2126645;2158790 D10S211;D10S2369;G59893;MLLT10_1942;RH102414;RH44601;RH45652;RH47336;RH48800;RH91239;SHGC-33568;SHGC-34521;SHGC-37264;SHGC-85735;STS-U13948;WI-17659 AF10;DKFZp686E10210;MGC75086 ALL-1 fused gene from chromosome 10;ALL1-fused gene from chromosome 10 protein;OTTHUMP00000019275;OTTHUMP00000019276;OTTHUMP00000019277;OTTHUMP00000019281;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 10;myeloid/lymphoid or mixed-lineage leukemia translocated to, 10;protein AF-10;type I AF10 protein;type III AF10 protein;type IV AF10 protein APPROVED protein-coding ENSG00000078403 16063 03874 602409 REVIEWED 1345641 MLPL1 MARCKS-like protein-like 1 4305 7143 1353795 MLS microphthalamia with linear skin defects 8364577 4307 7145 737507 MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 9 9 p22 20334968 20612514 - 20344968 20622514 - 1580863;6480464 18029348;8506309;18538732;18371451;17581865;16328057;16215946;16189514;16086288;15381384;14603337;12776190;12477932;11439343;11313972;10898795;8414510;8125298;16169070;16636056;17332896;19591803;19864429;20379614;20395514;20689807;20874815;21832049;20431927;20854876;21030982;21937695;22309891;22427200;21555454;21959947;21896721;21873227;23178754;21729782;22094256;23260655;23455922;20471948;20471949;21360054;22355797;22567366 4300 B1APT5;B1APT6;B7Z755;P42568;Q6MZE2;Q8IVB0 ABBA01065185;ABBA01065186;ABBA01065187;ABBA01065188;AK225957;AK297587;AK301474;AK312914;AL163193;AL354879;AL512635;AL513498;AL627410;AMYH01019273;BC030550;BC036089;BX649194;CH471071;D16688;L13744;NM_004529 AAA58361;AAH36089;ADZ16025;BAA04090;BAG35760;BAH12621;BAH13491;CAE46213;EAW58630;EAW58631;EAW58632;NP_004520;P42568 Hs.591085 1340524;1704262;1712763;1743797;1790203;2110575;2130839;2151416;2166598;2184401 BE111905;D9S1778;D9S1886;G15985;GDB:373748;MLLT3__6320;RH11443;RH120095;SHGC-53630;SHGC-83267 AF9;FLJ2035;YEATS3 ALL1-fused gene from chromosome 9 protein;OTTHUMP00000021127;YEATS domain-containing protein 3;myeloid/lymphoid or mixed-lineage leukemia (trithorax (drosophila) homolog); translocated to, 3;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3;myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein;protein AF-9 protein-coding 7136 01163 159558 VALIDATED 1344252 MLVI2 Moloney murine leukemia virus (MoMuLV) integration site 2 homolog 2793187 4309 7149 157960 1347043 MLN motilin This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Three transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. [provided by RefSeq, May 2010] 6 6 p21.3 33870427 33879771 - 33762449 33771793 - 1580863;6480464 11461914;10381885;18609694;18358279;18234640;17595255;15489334;15340161;12732349;12477932;12054506;11259768;7989042;6194039;3666144;2914635;2737284;2574660;20558539;20338210;19553259;19851445;18577758;21771971;22005931;22632857;23251661 4295 P12872 ABBA01038163;AL138889;AL158049;AMYH01016249;AW014210;BC069675;BC112314;BC143981;CH471081;M30277;M30278;M30279;M30280;M30281;NM_001040109;NM_001184698;NM_002418;X15392;X15393;X15394;X15395;X15396;Y00695 AAA59860;AAH69675;AAI12315;AAI43982;ADR82811;CAA33448;CAA68690;EAX03752;EAX03753;NP_001035198;NP_001171627;NP_002409;P12872 Hs.2813 1704104;1744747;1744749;1794024;2113842 GDB:555843;GDB:555847;MLN;PMC310739P3;SHGC-83372 MGC138519 OTTHUMP00000016220;OTTHUMP00000221654;OTTHUMP00000221655;prepromotilin;promotilin APPROVED protein-coding ENSG00000096395 7141 15931 158270 REVIEWED 1605692 MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008] 1 1 1 q21 124147453 124156275 + 149298775 149307597 + 151032151 151040973 + 6480464 21145461;19396856;18852119;17929166;16710414;15530661;15489334;14702039;12477932;7833468;20596645;21715312;22761939;21139048;21890473;21906983;22505724 10962 Q13015;Q6FGF7 ABBA01049368;AK056089;AK057755;AL590133;AMYH01001386;BC006471;BC007079;BC008445;BC009624;BC019253;BC021703;BC022448;BC032996;BT006799;CH471121;CR456879;CR542150;NM_006818;U16954 AAA70088;AAH06471;AAH08445;AAH09624;AAH19253;AAH21703;AAH22448;AAP35445;ABM82355;ABM85530;BAG51620;CAG33160;CAG46947;EAW53476;NP_006809;Q13015 Hs.75823 1647969;1687928;1689057;1795332;1855218;2111077;2144194 AF1Q_1363;D13S1138E;RH11557;RH79564;RH98209;SHGC-37116;STS-Z40244 AF1Q;RP11-316M1.10 ALL1 fused gene from chromosome 1q;ALL1-fused gene from chromosome 1q;OTTHUMP00000033120;protein AF1q APPROVED protein-coding 16997 05251 604684 REVIEWED 1315450 MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 17 17 17 q21 33522831 33547014 + 34115399 34139582 + 36861873 36886056 + 1580863;6480464 18029348;16713569;8058765;21145461;16086288;14702039;12477932;16189514;15588942;19864429;20098747;20431927;21832049;19322201 4302 E9PEP1;J3KSE4;P55198 AB209633;ABBA01031904;AC006449;AF075118;AK027133;AK057058;AK092893;AK310435;AK310437;AL133659;AL832481;AMYH01008367;BC007237;BC007859;BC064612;BX648298;CH471152;NM_005937;U07932 AAA21145;AAH07237;AAH07859;AAH64612;BAB15670;BAD92870;CAB63772;EAW60521;EAW60522;EAW60523;EAW60524;NP_005928;P55198 Hs.91531 1676688;1770360;1857646 RH41914;RH45610;RH91164 AF17;FLJ23480 ALL1-fused gene from chromosome 17 protein;Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6;OTTHUMP00000164158;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 6;protein AF-17;trithorax homolog protein-coding ENSG00000108292 7138 08978 600328 VALIDATED 731514 MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] 6 6 q27 167970520 168115552 + 168227671 168372700 + 1580863;6480464;6484113 10856295;8242616;19176753;18052198;17967423;17491594;17081983;17013812;16964243;16819513;16086288;16051602;15684424;15302935;15144186;14702039;14574404;12808105;12590145;12477932;12456712;12446711;12067721;11956217;11907041;11788587;11544254;11024295;10922060;10744716;10733589;10617658;10583506;10545207;10446149;10382971;10334923;10225955;10224125;10085297;9722616;9707552;9679199;9349501;9334353;8889548;8589040;10521485;10620020;10613913;17353931;15231748;15324660;15811349;20379614;20413783;18029348;16344560;16882694;16239140;21697133;21478912;21880730;17620599;22446626;22586326;21732359;20586101;17979178;19738201;21706016;22623428;23319000;23393160;23444366 4301 A8MQ02;C9JX92;E9PFY5;F8W9I4;H0Y7R8;H0Y8L4;H0Y8U8;H0Y948;H0Y9I0;H0YA98;J3KN01;Q5TIG5;Q9NU92 AB011399;AB209420;AB621809;ABBA01000415;ABBA01000416;AF085836;AI271860;AK055689;AK091815;AL009178;AL049698;AL161973;AL731868;AL732359;AMYH01016866;BC014505;BE503462;BE645141;BF732725;BQ646972;BX649158;CA503365;CH471051;D60168;DA200453;DB079271;E13503;NG_029689;NM_001040000;NM_001207008;U02478 AAC50059;AAH14505;AAI56049;AAI56935;BAA32483;BAA32484;BAA32485;BAD92657;BAK64145;CAB82312;EAW47480;EAW47481;EAW47482;EAW47483;EAW47484;EAW47485;EAW47486;NP_001035089;NP_001193937;P55196 Hs.614974;Hs.728849;Hs.741785 1678363;1684946;1693334;1694144;1699030;1723261;1752929;1756427;1768289;1773314;1774681;2124040;2144097;2154769;2158831;2183033;2183088;2219930;5024545 AL034440;AL035180;D1S3695;D6S1539;G29377;MLLT4__6321;RH103088;RH122318;RH12549;RH45127;RH69394;RH75081;RH80394;SHGC-106814;SHGC-143407;SHGC-34245;STS-R33112;STS-U02478;WI-11462 AF-6;AF6;AFADIN;FLJ34371;RP3-431P23.3 ALL1-fused gene from chromosome 6 protein;OTTHUMP00000017633;OTTHUMP00000017634;OTTHUMP00000017635;OTTHUMP00000223316;OTTHUMP00000223317;afadin;protein AF-6 APPROVED protein-coding ENSG00000130396 7137 01164 159559 REVIEWED 736229 MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 16 16 16 p13.3 2469868 2473835 + 2195451 2199419 + 2255178 2259418 + 1626104;2308795;6480464;6484113;6907045 12718876;19339977 14702039;12477932;11182770;16183647;15066126;12719976;15854902;17461779;21981924;12408816;15467718;15718470;15755954;15809305;20427287;20562859;16344560;21163940;21139048;21906983;18235224;21283628;21321085;21454807;22258093;21987572;15459249;16798736;17386266;20169205;21460630;22017875;22505724 64223 H3BM50;H3BN58;H3BPT1;H3BPU5;H3BQ74;H3BR25;H3BR38;H3BSZ4;I3L2E7;Q9UJV6 ABBA01030269;AC009065;AF195883;AI933692;AK021536;AK022227;AK098762;AK123195;AK302201;AK304390;AMYH01007055;AU117583;AU121635;AY223837;BC001313;BC017119;BC020499;BC052292;BC088354;BI761765;BQ014640;CH471112;DA382215;NM_001199173;NM_001199174;NM_001199175;NM_022372 AAF04308;AAH01313;AAH17119;AAH52292;AAH88354;AAO73410;ABM82537;ABM85729;ABW03392;BAB13990;BAG51036;BAG63562;BAG65225;EAW85537;EAW85538;EAW85539;EAW85540;EAW85541;EAW85542;NP_001186102;NP_001186103;NP_001186104;NP_071767;Q9BVC4 Hs.29203 2146291 STS-W72364 GBL;GbetaL;LST8;MGC111011;POP3;WAT1 G protein beta subunit like;G protein beta subunit-like;OTTHUMP00000159044;OTTHUMP00000159045;OTTHUMP00000159046;TORC subunit LST8;gable;mammalian lethal with SEC13 protein 8;protein GbetaL;target of rapamycin complex subunit LST8 protein-coding ENSG00000167965 24825 17031 612190 VALIDATED 1321808 MLPH melanophilin This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 2 2 q37.3 238060617 238128700 + 238395878 238463961 + 1580863;6480464;7240710 11856727;16415175;15517821;15489334;15117313;14730011;14702039;12975309;12897212;12603861;12531900;12477932;12221080;12189142;12062444;11980908;21145461;11504925;8125298;11773082;15059972;12578829;12006666;17045265;21883982;21906983;21743057 79083 B4DKW7;C9JI01;C9JKV5;G5E9G5;H7C052;H7C190;H7C2D8;H7C371;H7C3K9;Q9BV36 ABBA01042585;ABBA01042586;ABBA01042587;AC104667;AC112721;AK022207;AK056867;AK094168;AK225381;AK292929;AK296745;AK310821;AMYH01011598;AY358857;BC001653;BC051269;BM272410;BM992819;CH471063;DC300186;NG_007286;NM_001042467;NM_001281473;NM_001281474;NM_024101;NR_104019 AAH01653;AAH51269;AAQ89216;AAY24045;AAY24136;ADR82715;BAB13984;BAF85618;BAG52834;BAG59329;EAW71112;EAW71113;EAW71114;EAW71115;EAW71116;NP_001035932;NP_001268402;NP_001268403;NP_077006;Q9BV36 Hs.102406 1854485;5106956 RH48487;STS-H98003 MGC2771;MGC59733;SLAC2-A OTTHUMP00000164416;OTTHUMP00000202834;OTTHUMP00000202835;OTTHUMP00000202836;OTTHUMP00000202837;exophilin-3;melanophilin;slp homolog lacking C2 domains a;synaptotagmin-like protein 2a APPROVED protein-coding ENSG00000115648 29643 09409 606526;609227 REVIEWED 1602332 MLXIP MLX interacting protein MONDOA forms heterodimers with MLX (MIM 602976) that can bind to and activate transcription from CACGTG E boxes (Billin et al., 2000 [PubMed 11073985]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 122201038 122218235 + 121177744 121194942 + 122516652 122517172 + 6480464 18458340;16782875;12826659;12477932;12446771;11073985;10048485;19706488;20385767;20844768;21908621;22748921 22877 C9JBQ4;F5GWJ2;F5H0V4;F5H321;H0YGR9;Q9HAP2 AB020674;ABBA01060481;AC130894;AC156455;AC190384;AF245480;AF245481;AF312918;AMYH01004824;AMYH01004825;BC017656;BC028309;BC039704;BC069272;BC151841;CH471054;NM_014938 AAG34121;AAH17656;AAH28309;AAH39704;AAI51842;AAL55689;AAL55690;BAA74890;EAW98304;EAW98305;EAW98306;NP_055753;Q9HAP2 Hs.721711;Hs.731847 2126530;2163718 STS-W45376;WI-20969 KIAA0867;MIR;MONDOA;bHLHe36 MLX-interacting protein;Mlx interactor;MondoA;OTTHUMP00000239806;class E basic helix-loop-helix protein 36;transcriptional activator MondoA APPROVED protein-coding ENSG00000175727 17055 10478 608090 VALIDATED 1602902 MLX MLX, MAX dimerization protein The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q21.1 37375011 37381154 + 37972604 37978747 + 40719078 40725221 + 6480464 15163635;11230181;10918583;18458340;16782875;15664996;15489334;14702039;12477932;12446771;10593926;8973301;8889549;8889548;7490091;11073985;16189514;21102463;14742444;18255255;20382893;21832049;21139048;21906983;21110914 6945 K7EID0;Q9H2V2 AA024982;AB209235;ABBA01006420;AC067852;AF203978;AF213666;AF213667;AF213668;AK000150;AK290258;AK296114;AK303221;AK309628;AK314378;AK315432;AMYH01008395;BC010689;BC014537;BE907687;BI517590;BQ186038;BT009812;CH471152;NG_029442;NM_170607;NM_198204;NM_198205;U34879 AAF14638;AAG40145;AAG40146;AAG40147;AAH10689;AAP88814;BAA90977;BAD92472;BAF82947;BAG37005;BAG37820;BAG58863;BAG64308;EAW60841;EAW60842;EAW60843;EAW60844;EAW60845;NP_733752;NP_937847;NP_937848;Q9UH92 Hs.383019;Hs.714749 1652404;1656606;1694514;1739497;1767439;1767441;1770051;2149041;2155392;5014051;5016478;5022200;5022861;5037552;5117897 D17S1663;D17S1702;D8S2278;D8S2279;G43000;GDB:434012;GDB:631813;L18426;MLX;RH67830;RH71206;SHGC-13493;SHGC-53165;STS-U18014;WI-20188 MAD7;MXD7;TCFL4;bHLHd13 BigMax protein;MAX-like bHLHZIP protein;class D basic helix-loop-helix protein 13;max-like protein X;protein BigMax;transcription factor-like 4;transcription factor-like protein 4 APPROVED protein-coding ENSG00000108788 11645 04278 602976 REVIEWED 1312825 MMAA methylmalonic aciduria (cobalamin deficiency) cblA type The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008] 4 4 q31.21 146779677 146796187 + 146540540 146581187 + 1580863;1600803;6480464;7240710 15523652 19371216;17957493;17597648;16641088;15489334;15308131;14702039;12477932;12438653;20876572;21138732;23026888;20301409 166785 D6RIS5;Q495G6;Q8IVH4 ABBA01070034;AC093864;AF524841;AF524842;AF524846;AK094722;AK126662;AMYH01014595;BC101178;BC101179;BC101180;BC101181;CH471056;NG_007536;NM_172250 AAI01179;AAI01180;AAI01181;AAI01182;AAN77287;BAG54352;EAX05036;NP_758454;Q8IVH4 Hs.452864 1651371;1656849;1672496;1678823;1792152;1792154;1792156;1792158;1792160;1792162;2120917;2120919;2149962;2182399 A005L23;A006R31;G20310;PMC137755P1;PMC137755P2;PMC137755P3;PMC137755P4;PMC137755P5;PMC137755P6;RH35812;RH98423;SGC32504;SHGC-59313;SHGC-59790 MGC120010;MGC120011;MGC120012;MGC120013;cblA OTTHUMP00000220104;OTTHUMP00000220105;methylmalonic aciduria (cobalamin deficiency) type a;methylmalonic aciduria type A protein, mitochondrial APPROVED protein-coding ENSG00000151611 18871 07394 251100;607481 REVIEWED 731588 MLYCD malonyl-CoA decarboxylase The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008] 16 16 q24 82490231 82507288 + 83932730 83949787 + 1600798;1300048;1580863;6480464;6907045;7240710 10455107 9869665;10417274;18660489;18614968;18314420;17186413;17081983;16434556;16386195;15489334;15206948;15003260;14702039;12955715;12477932;20702857;20877624;23482565;20178365;22778304 23417 O95822 ABBA01016931;ABBA01016932;AC009119;AF090834;AF097832;AF153679;AK094095;AMYH01007864;BC000286;BC052592;CH471114;NG_009079;NM_012213 AAD16177;AAD34631;AAD48994;AAH00286;AAH52592;EAW95513;NP_036345;O95822 Hs.644610 1854397;2217610;5022651;5037552;5108158 D11S2921;D8S2279;G38235;MLYCD_3558;SHGC-60689 MCD;MGC59795 malonyl coenzyme A decarboxylase;malonyl-CoA decarboxylase, mitochondrial APPROVED protein-coding ENSG00000103150 7150 05999 248360;606761 REVIEWED 1343873 MLXIPL MLX interacting protein-like This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008] 7 7 q11.23 72645460 72676806 - 73007524 73038870 - 634534;1580599;1580863;6480464 11724780;10780788 11230181;9860302;12721358;19487539;19252981;19148283;19060911;19060906;18950580;18946681;18606808;18591247;18193046;18193044;18193043;16644671;15163635;14759258;14702039;12477932;11698644;15489334;21726544;21938000;20864672;20965718;20972250;21036147;20570916;20580033;20679960;14742444;19571538;19680233;19913121;19995986;20025850;20158509;20167577;20657596;20382893;21282101;21145868;21811631;21665952;22546860;23505323;22338092;21835137;22466288;21840420;20686565;21909109;22001757;22286219;22399527;20301427;21988832;23209190;23263486;23530060;23443556 51085 C5HU01;C9JDF5;H7C1V3;Q9BY06 ABBA01063946;ABBA01063947;ABBA01063948;ABBA01063949;AC005089;AF156603;AF156673;AF245470;AF245471;AF245472;AF245473;AF245474;AK055029;AMYH01017536;BC012925;CH471200;FJ515858;NG_009307;NM_032951;NM_032952;NM_032953;NM_032954 AAF68174;AAF68176;AAH12925;AAK20935;AAK20936;AAK20937;AAK20938;AAK20939;ACS13745;ACS13746;ACS13747;EAW69660;EAW69661;EAW69663;EAW69668;NP_116569;NP_116570;NP_116571;NP_116572;Q9NP71 Hs.647055 1334971;1660161;1722951;1731955;1753475;1852859;2111440;2189275;5015861;5037552;7185938;7187824 D10S16;D7S1624;D7S2476;D7S2523;D7S809;D8S2279;G60573;RH64919;SHGC-107367;Wbscr14 CHREBP;MIO;MONDOB;WBSCR14;WS-bHLH;bHLHd14 MLX-interacting protein-like;Mlx interactor;OTTHUMP00000160457;OTTHUMP00000160458;OTTHUMP00000211546;OTTHUMP00000211547;OTTHUMP00000225492;OTTHUMP00000225493;WS basic-helix-loop-helix leucine zipper protein;Williams Beuren syndrome chromosome region 14;Williams-Beuren syndrome chromosomal region 14 protein;Williams-Beuren syndrome chromosome region 14 protein 1;Williams-Beuren syndrome chromosome region 14 protein 2;carbohydrate response element binding protein;carbohydrate-responsive element-binding protein;class D basic helix-loop-helix protein 14 APPROVED protein-coding ENSG00000009950 12744 12033 605678 REVIEWED 6481384 MME-AS1 MME antisense RNA 1 100873918 AC106724 APPROVED miscrna 40376 1347796 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011] 12 12 q24 108475903 108495741 - 109991520 110011358 - 1600420;6480464;6907045;7240710 12471062 19060906;18251506;18193043;17957493;17597648;17410422;16344560;15781192;15489334;15347655;12514191;12477932;7829101;20159775;19487539;19605566;19625202;20160193;20430392;20864672;20556797;20877624;20972250;20571754;21604717;18029348;20186120;20686565;20301409 326625 F5GY93;F5H079;F5H0C1;F5H4Z7;J3KN55;Q96EY8 ABBA01005069;AC007570;AF550396;AF550397;AF550398;AF550399;AF550400;AF550401;AF550402;AF550403;AF550404;AK295211;AK312598;AMYH01004737;BC005054;BC011831;BI497024;CH471054;DA718661;FJ515859;NG_007096;NM_052845;NR_038118 AAH05054;AAH11831;AAN85091;ACS13749;ADZ15878;BAG35490;BAG58206;EAW97869;NP_443077;Q96EY8 Hs.12106 1645618;1653202;2154550;2179036 D12S172;D12S234;G17625;RH45414 ATR;MGC20496;cblB;cob ATP:cob(I)alamin adenosyltransferase;ATP:corrinoid adenosyltransferase;OTTHUMP00000240563;OTTHUMP00000240564;aquocob(I)alamin vitamin B12s adenosyltransferase;cob(I)alamin adenosyltransferase;cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial;methylmalonic aciduria (cobalamin deficiency) type b;methylmalonic aciduria type B protein APPROVED protein-coding 19331 07398 251110;607568 REVIEWED 1601765 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] 1 1 p34.1 45738443 45749326 + 45965856 45976739 + 6480464;7240710 15489334;19370762;19200761;19199254;18779575;18245139;18164228;17431913;16710414;16311595;12477932;22832074;20219402;19447654;19700356;19760748;19767224;19801555;20237496;8889548;20877624;20631720;21071249;21139048;22642810;20301503;20301313;23270877 25974 H0YE99;Q9Y4U1 ABBA01050867;ABBA01050868;ABBA01050869;ABBA01050870;AK098537;AL080062;AL451136;AMYH01000574;BC006122;BM980565;BU632364;BU839693;CH471059;NG_013378;NM_015506 AAH06122;ADZ15809;CAB45693;EAX06983;NP_056321;Q9Y4U1 Hs.13024 1657787;1659968;1680701;1754047;1763031;2128988;2137153;5022578 A007G24;D1S1423;D1S2391;RH36426;RH69651;SHGC-132089;SHGC-146777;SHGC-74739 DKFZp564I122;FLJ25671;RP11-291L19.3;cblC OTTHUMP00000009243;methylmalonic aciduria and homocystinuria type C protein APPROVED protein-coding ENSG00000132763 24525 18585 277400;609831 REVIEWED 1315160 MMD2 monocyte to macrophage differentiation-associated 2 This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 7 7 7 p22.1 4904710 4957925 - 4912146 4965370 - 4931876 4998844 - 737633;1580863;6480464 12477932 21226936;19240061;16044242;15489334;14702039;20570966;20237496;20379614;22339580;21968647 221938 Q8IY49 ABBA01039433;ABBA01039434;ABBA01039435;AC053546;AC092032;AC092610;AK094524;AMYH01016991;AY424288;BC024012;BC037881;BC048346;BC067905;CH471144;HD061948;NM_001100600;NM_001270375;NM_198403;NR_072989 AAH37881;AAH67905;AAR08376;CBS99540;EAW87305;EAW87306;EAW87307;EAW87308;NP_001094070;NP_001257304;NP_940685;Q8IY49 Hs.558694 1781380;1849183;2146081;5016478;5016596;5022651 A004U30;D11S2921;GDB:434012;GDB:631802;SHGC-106314;SHGC-55942 FLJ37205;PAQR10 OTTHUMP00000200643;OTTHUMP00000200648;OTTHUMP00000200649;monocyte to macrophage differentiation factor 2;monocyte-to-macrophage differentiation factor 2;monocyte-to-macrophage differentiation-associated protein 2;progestin and adipoQ receptor family member 10;progestin and adipoQ receptor family member X APPROVED protein-coding ENSG00000136297 30133 17578 614581 REVIEWED 1346733 MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] 2 2 2 q23.2 144039995 144058186 - 150134397 150152523 - 150426147 150444330 - 6480464;7240710 22156578;15489334;12477932;11042152;9110174;8619474;18385497;15815621;19913121;20628086;22832074;21071249;20301409;20301503;23270877 27249 F8WEC0;Q9H3L0 AA857973;ABBA01004744;AC110782;AF060224;AF131802;AF161510;AK310001;AK313284;AMYH01011163;BC000932;BC010894;BC022859;BC023995;BG610637;BM456421;BU570084;CH471058;NG_009189;NM_015702 AAD20048;AAF29125;AAG43124;AAH00932;AAH10894;AAH22859;AAH23995;AAY14891;BAG36092;EAX11533;EAX11534;EAX11535;EAX11536;EAX11537;NP_056517;Q9H3L0 Hs.5324 1740047;1778117 D2S2131;RH12678 C2orf25;CL25022;cblD OTTHUMP00000204371;OTTHUMP00000204372;OTTHUMP00000205995;methylmalonic aciduria and homocystinuria type D protein, mitochondrial;protein C2orf25, mitochondrial APPROVED protein-coding ENSG00000168288 25221 10781 277410;611935 REVIEWED 1343591 MMGT1 membrane magnesium transporter 1 X X X q26.3 135404702 135416609 - 134871897 134883800 - 135044231 135056134 - 737633;1580863;6480464 12477932 18057121;16381901;15489336;11256614;11230166;11076863;21832049;22939629;22119785;21890473;21906983;19322201;22190034;22505724 93380 Q8N4V1 ABBA01055844;ABBA01055845;AK295829;AK312409;AL157477;AL732579;AL953870;AMYH01023045;BC033588;CH471150;NM_173470 AAH33588;BAG35322;BAG58645;CAL38628;EAW88483;EAW88484;EAW88485;NP_775741;Q8N4V1 Hs.110702 1739393;2170450;2170452 A005K16;D13S1134E;G20282 EMC5;TMEM32 ER membrane protein complex subunit 5;OTTHUMP00000024092;membrane magnesium transporter 1;transmembrane protein 32 protein-coding ENSG00000169446 28100 06626 PROVISIONAL 1346726 MMD monocyte to macrophage differentiation-associated This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008] 17 17 17 q 49932255 49961614 - 50824973 50854340 - 53469974 53499341 - 1580863;6480464 21968647;7503749;16044242;15489334;12477932;20237496;19322201;23251661 23531 I3L1Y1;Q15546 ABBA01041288;AC006269;AC007638;AK303810;AK312760;AMYH01008488;AY424289;BC026324;BI546449;CH471109;CR541893;HD061950;N40480;NM_012329;X85750 AAH26324;AAR08377;ABM83288;ABM86495;BAG35626;BAG64763;CAA59752;CAG46691;CBS99541;EAW94541;EAW94542;NP_036461;Q15546 Hs.463483;Hs.656753 1678931;2115423;2173155 A006T04;RH12438;RH93643 MMA;MMD1;PAQR11 macrophage maturation-associated;monocyte to macrophage differentiation factor;monocyte to macrophage differentiation protein;progestin and adipoQ receptor family member 11;progestin and adipoQ receptor family member XI APPROVED protein-coding ENSG00000108960 7153 06835 604467 REVIEWED 737353 MME membrane metallo-endopeptidase This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008] 3 3 q25.2 156280130 156384212 + 154797436 154901518 + 1581742;1581931;1600817;1600813;1600811;1580863;6480464;6907045 15638741;16520407;15464186;11849775;17021406 17220478;17342744;2521388;1660144;19515046;19437324;19326964;19250583;19196432;19152193;19057576;19047112;18806483;18619643;18605079;18602473;18545147;18539150;18518902;18393807;18370954;18292286;18182043;18092952;18042078;17953966;17928142;17906676;17885484;17876294;17712175;17662271;17591969;17363457;17335564;17296585;17294442;17101991;16984256;16948517;16943769;16940054;16900384;16900210;16877296;16857799;16722930;16700740;16652149;16400325;16344560;16226260;16123216;15945081;15870909;15860464;15785408;15720419;15578072;15548496;15502805;15489334;15469471;15294904;15286660;15283675;15217945;15205682;15100223;14968440;14767532;14749444;14747736;14739539;14673956;14550292;12785004;12754519;12754344;12657655;12529960;12527400;12485446;12477932;12447961;12393702;12387451;12203213;12150966;12140380;12105192;12102663;12087466;12070597;11906289;11367540;11170145;11140838;11104793;10669592;9857225;9659899;9313778;9247159;9232196;8943850;8687431;8631021;8168535;8003005;7532408;3162217;3157879;2994530;2984462;2972276;2971756;2968607;2736261;21677537;2612455;2531377;2528730;2521237;2417254;2201681;15668537;21425402;20204382;17207277;19127446;19287335;19448593;19606063;19656156;19661328;19752720;19787248;19816087;19817893;19864659;19897485;19925052;19948975;19961253;20014550;20051779;20051780;20105452;20376800;20390424;20468064;20574156;17845760;20061637;20459800;20546336;20711432;20856894;20685603;20175824;20184665;20663017;19575892;19019493;20506111;20716621;21052031;20886092;20947507;20957047;20079015;21225496;20858953;22898766;21315759;21666788;21076839;21585282;21499231;21775056;21609487;21877416;21651905;15047060;21883368;21988858;21681600;22286396;22183801;22417750;21365649;21835428;21989348;22257901;22300665;21804528;22014058;22261707;22006372;22371247;22384224;22464152;22492182;22880404;22572771;21963094;23063927;22994707;22410801;23138928;23356903;23339695;23219141;23752268;19288202;22272689;22767595 4311 C9IYX7;C9J7X4;C9J9X7;C9JDZ3;C9JR96;P08473;Q3KQS6 ABBA01058864;ABBA01058865;AC106724;AC117384;AK291761;AK310664;AMYH01013592;BC101632;BC101658;BC106070;BC143465;BM151602;BP418894;BX647134;CH471052;DA574242;DB142029;EU326307;J03779;M26605;M26606;M26607;M26608;M26609;M26610;M26611;M26612;M26613;M26614;M26615;M26616;M26617;M26618;M26619;M26620;M26621;M26622;M26623;M26624;M26625;M26626;M26627;M26628;NM_000902;NM_007287;NM_007288;NM_007289;X07166;X79438;Y00811 AAA51915;AAA52294;AAI01633;AAI01659;AAI06071;AAI43466;ACA05913;ACA05914;BAF84450;CAA30157;CAA68752;EAW78753;EAW78754;EAW78755;EAW78756;EAW78757;EAW78758;NP_000893;NP_009218;NP_009219;NP_009220;P08473 Hs.307734 1707048;1725803;1741449;1753185;1762267;1787920;1797866;2139333;2142298;2151009 G62078;GDB:181217;MME_1383;RH1499;SHGC-110011;SHGC-146123;SHGC-173666;SHGC-35301;SHGC-77474;SHGC-81275 CALLA;CD10;DKFZp686O16152;MGC126681;MGC126707;NEP;SFE OTTHUMP00000212961;OTTHUMP00000212963;OTTHUMP00000212964;OTTHUMP00000212965;OTTHUMP00000212966;atriopeptidase;common acute lymphocytic leukemia antigen;enkephalinase;membrane metallo endopeptidase;membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase);membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10);membrane metallo-endopeptidase variant 1;membrane metallo-endopeptidase variant 2;neprilysin;neutral endopeptidase 24.11;skin fibroblast elastase APPROVED protein-coding ENSG00000196549 7154 00392 120520 REVIEWED 1603610 MMEL1 membrane metallo-endopeptidase-like 1 The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008] 1 1 1 p36 21530 63919 + 2511941 2554289 - 2522081 2564481 - 6480464 21833088;18539150;16710414;16344560;15489334;15121861;14702039;12477932;11560781;10542292;18029348;18794853;19674979;20049410;20190752;20439292;20453842;20634891;20639879;20574445;21297633;21784728;22027013;22008264;22197933;23128233 79258 B3KS82;J3KRD2;Q495T6 ABBA01016102;ABBA01016103;ABBA01016104;ABBA01016105;AF336981;AK093058;AL139246;AL589746;AL831784;AMYH01000177;AMYH01000178;AX033274;BC101027;BC101028;BC101029;BC101030;CH471183;DB089501;NM_033467 AAI01028;AAI01029;AAI01030;AAI01031;AAL08942;BAG52644;CAC09978;EAW56080;EAW56081;EAW56082;NP_258428;Q495T6 Hs.591453 1729738;1756171;2157232;2157234 A006A26;D1S171;G20652;SHGC-143023 MGC119454;MGC119455;MGC119456;MMEL2;NEP2;NEPII;NL1;NL2;SEP NEP2(m);OTTHUMP00000000967;OTTHUMP00000217733;OTTHUMP00000217734;membrane metallo-endopeptidase-like 1;membrane metallo-endopeptidase-like 2;neprilysin II;neprilysin-2;soluble secreted endopeptidase;zinc metallopeptidase APPROVED protein-coding ENSG00000142606 14668 07024 REVIEWED 1347586 MMP10 matrix metallopeptidase 10 (stromelysin 2) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans and fibronectin. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 q22.3 102146444 102156554 - 102641233 102651359 - 1580863;6480464;7207051 19886850 9042108;2844164;18617643;18427549;18035073;17695449;17543340;17009259;16580524;16516860;16331256;16054593;15944607;15489334;15375490;15371548;15288123;15095982;12477932;10986281;10472874;10419448;9662124;9578462;9427548;22492089;22524815;9261109;8921407;8631328;8349617;8144618;8125298;8003069;7694569;7632822;2605216;2369069;1874716;20584750;19317417;19489686;19601983;19695094;19762781;19921252;19935709;20452482;20453000;20484597;20432469;19913121;20587546;20628086;20673868;20936527;20215736;22121946;20219015;22821423;21998657;22022614;22104553;22427646;21925226;22545096;23098370;23412934 4319 F5GYX7;P09238 ABBA01039931;AK222601;AK313960;AMYH01003992;AP000619;AY744675;BC002591;BT007442;CH471065;M30461;NM_002425;X07820 AAH02591;AAO65617;AAP36110;AAU21039;ABM82857;ABM86044;BAD96321;BAG36676;CAA30679;EAW67029;NP_002416;P09238 Hs.2258 1742549;2133408;2217612 GDB:197866;MMP10_2715;RH70815 SL-2;STMY2 MMP-10;OTTHUMP00000237848;matrix metalloprotease 10;matrix metalloproteinase 10 (stromelysin 2);matrix metalloproteinase-10;stromelysin 2;stromelysin-2;transin 2;transin-2 APPROVED protein-coding ENSG00000166670 7156 01704 185260 REVIEWED 735298 MMP11 matrix metallopeptidase 11 (stromelysin 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008] 22 22 q11.23 22445036 22456503 + 24115036 24126503 + 1580863;6480464 17181997;7746327;1701851;19212658;19159011;18622425;18208802;18172255;17980449;17543340;17233884;17085465;16303743;15989693;15788677;15582574;15509588;15489334;15459498;12845673;12538453;12477932;12429794;12006591;11857311;11280785;10419448;7657606;7523394;1639418;18476627;15231748;19509157;19914229;20060156;20160732;20230842;20452482;19913121;20587546;20628086;20673868;21048031;21442356;22927434;21513571;21773755;17091452;22286800;22076168;22227581;22488635;22768249 4320 B3KQS8;E9PED7;F8WDI7;H7C3I7;P24347 ABBA01055120;ABBA01055121;AK075448;AK125911;AK129792;AMYH01012647;AP000349;AY899208;BC057788;CH471095;DQ399599;NG_029443;NM_005940;X57766;X84664 AAH57788;AAW65373;ABD92798;BAG52140;CAA40918;CAA59150;EAW59603;EAW59604;NP_005931;P24347 Hs.143751 1744393;1769971;1779179;1796324;2156678 GDB:452641;MMP11_190;RH18115;SHGC-7855;STS-AA027995 SL-3;ST3;STMY3 MMP-11;OTTHUMP00000198423;OTTHUMP00000198424;matrix metalloproteinase 11;matrix metalloproteinase 11 (stromelysin 3);matrix metalloproteinase-11;stromelysin 3;stromelysin III;stromelysin-3 APPROVED protein-coding ENSG00000099953 7157 01705 185261 REVIEWED 1350336 MMP12 matrix metallopeptidase 12 (macrophage elastase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 q22.3 102238674 102250922 - 102733464 102745764 - 1582352;1582363;1582365;1582355;1582356;1582358;1582366;1582361;1582354;1582351;1580863;6480464;7207058;6218988;2325762;7241212;7241216;7241222;2290421;737630 16533694;12103254;11546917;16115023;16082623;15654856;10807873;15073384;16221765;16820601;19321798;21894146;20488952;16816359;21277817;18606867;11576837;12626598 15489334;22305682;8226919;19420105;19293200;19258954;19159011;19132754;19056482;18823978;18775985;18660381;18619044;18539597;18425585;18403602;18390828;18334288;18324629;18308831;18259971;18155181;18091353;18052707;18006768;18001704;18001475;17997411;17727250;17706587;17607721;17574772;17473191;17373931;17300109;17182940;17178873;17178858;17000679;16912171;16676616;16481329;16359550;16311244;16166618;15989693;15987457;15983040;15944607;15802269;15781250;15723202;15709175;15654955;22153340;22509390;15474460;12858542;12742660;12477932;12195704;11875051;11575929;11575928;11241738;10949161;10930399;10859319;10801980;10737800;10419448;10187779;9115292;8921407;7782320;11053263;18396640;19562509;19578796;19590686;19628284;19643940;19664242;19731200;19789190;19794969;19932771;19958990;20018959;20078883;20230842;20376807;20392358;20452482;20484597;20546881;20160424;20655856;19913121;20485444;20587546;20628086;20673868;20127415;20736794;20827277;21048031;17357518;20595276;21832049;22936257;22907031;21606841;21730350;21683576;21967233;22117411;22076168;22832961;22119538;21920892;22528292;23271741;23075521;22863605 4321 P39900;Q99745 ABBA01039930;AI343504;AI352562;AK313959;AMYH01003992;AP000789;AW172994;AY856072;BC112301;BC143773;BE440047;BE813419;CH471065;FP885831;L23808;NG_032936;NM_002426;U25346;U78045 AAA58658;AAB06314;AAB36943;AAI12302;AAI43774;AAW29944;ADR83017;BAG36675;EAW67033;NP_002417;P39900 Hs.1695;Hs.709832 2181912;2217614 MMP12;MMP12_2636 HME;ME;MGC138506;MME;MMP-12 ME;MMP-12;macrophage elastase;macrophage metalloelastase;matrix metalloproteinase 12 (macrophage elastase);matrix metalloproteinase-12 APPROVED protein-coding 7158 03027 601046 REVIEWED 1343267 MMP13 matrix metallopeptidase 13 (collagenase 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 q22.3 102318934 102331672 - 102813721 102826463 - 1580157;1582556;1582549;1582551;1582554;1582576;1582544;1582545;1582548;1580863;2306074;2306082;2306083;2293604;2293606;2306075;2306080;2306081;2293609;2293603;2293612;6480464;7207089;1582587;7207218;7207283;7207133;7207361;7240710 15944607;15782494;12392760;9553127;16112096;16037568;16230484;16961140;15156361;19258954;17243165;12974393;15517230;11585740;19134456;18709334;18698413;11054671;18373849;10027405;16128596;10773235;22890185;21856922;15259001;21382168 21959927;22095691;22270366;8609233;8207000;19494318;19301259;19248116;19248107;19248099;19180518;19124506;19094243;19038372;18987329;18985055;18971037;18755271;18753468;18593949;18528653;18487224;18366705;18308831;18289383;18289056;18262231;18225566;18091353;18006768;17905570;17876296;17853491;17822788;17786186;17724016;17697361;17626252;17623656;17607721;17495113;17395008;17373931;17373717;17311929;17300926;17208315;17196980;17151781;17138534;17116693;17076612;17033924;17009260;16984617;16948116;16917496;16877349;16648633;16507124;16398406;16356191;16331612;16144844;16024014;15947272;15763932;15693018;15654517;15640153;15551360;15489334;15067375;14558091;12878172;12814616;12734180;12477932;12426321;12270924;12192005;12149192;12139441;12009332;11903048;11883937;11108860;11032846;10986281;10949161;10947989;10930399;10788434;10514495;10419448;10074939;9562863;9119388;9065415;8969305;8663255;8125298;7607691;12009331;21508380;22488635;20506238;20683000;19185056;19296842;19333684;19415460;19422937;19442604;19453573;19551542;19561643;19562509;19564415;19615667;19779140;19784544;19787229;19821768;19883500;19902888;19948051;20043086;20067416;20097749;20131257;20175118;20376807;20452482;20484597;21278254;20463008;20685652;20615395;21187486;19913121;20485444;20573369;20587546;20628086;20634891;20672350;20673868;20706991;20878060;20667128;20827277;20948207;21048031;21211511;20936527;21142220;21191416;21720458;20878116;21039987;22710194;21339746;21205837;21437966;22869368;21913037;22992737;21849805;21344378;21344384;21107991;21539914;20196777;22153941;22273691;22102411;22128168;21938739;22505473;22158614;20857147;21881840;22573319;22610965;22590832;22006368;22950625;23162804;23417678;22722466;22084953;22710868;23334990;23467939;22032644;22327326;22782903 4322 A8K846;G5E971;P45452;Q53H33 ABBA01039930;AK222748;AK292211;AK315341;AMYH01003992;AP000789;AP001486;AY256443;AY256444;AY741163;BC067522;BC067523;BC074807;BC074808;CA413743;CH471065;NG_021404;NM_002427;X75308;X81334;X81640 AAH67522;AAH67523;AAH74807;AAH74808;AAP78939;AAP78940;AAU13907;ADR82764;BAD96468;BAF84900;BAG37740;CAA53056;CAA57108;CAA57296;EAW67034;EAW67035;NP_002418;P45452 Hs.2936 1672881;1745735;1745737;1791788;1791790;1794876;2129471 D11S3989;GDB:632948;GDB:632950;PMC125702P1;PMC125702P2;PMC64850P1;STS-X75308 CLG3;MANDP1 MMP-13;OTTHUMP00000231260;OTTHUMP00000231261;collagenase 3;matrix metalloproteinase 13 (collagenase 3) APPROVED protein-coding ENSG00000137745 7159 02522 600108;602111 REVIEWED 1317388 MMP1 matrix metallopeptidase 1 (interstitial collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes a secreted enzyme which breaks down the interstitial collagens, types I, II, and III. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 11 11 q22.3 102165861 102174104 - 102660641 102668966 - 1581215;1582543;1580553;1582530;1582532;1582537;1582525;1582539;1582361;1582538;1582365;1582527;1582519;1582522;1582536;1582520;1582524;1582535;1582540;1582541;1582542;1580863;4890371;4890375;4890382;4890377;4890379;4890372;5131088;6480464;6484113;6907045;7207084;7207283;7207138;7207082;7206857;7207064;7207021;7207022;7207198;7207216;7207217;7207396;7207397;7207046;7207054;7207129;7207020;7207056;7207132;7207143;7240710;7207023;7207048;7207049;7207058;7207277;7207377;7207147;7207194;7207219;7207282;7207288;7207362;7207382;7207388;7207077;7207134;7207136;7207363;7207365;7206856;7207025;7207135;7207203;7207024;7207045;7207034;7207133;7207140;7207379;7207044;2312464;7207395 16681691;9804345;12364729;15561045;15363819;14499230;15621056;12892382;15073384;12952838;11546917;15619398;16293969;15780799;14675588;16210545;15662225;15009768;12175972;12167381;11720009;19293200;17363767;17178334;11875051;19963114;19191136;15718477;16164636;21856922;12473595;17980059;20944126;19221176;11691799;11489811;8531210;23173262;23087098;14606082;17996137;15312099;19796283;9972954;10485461;19843588;16124044;21835023;12845675;20616161;17893005;19321798;22571259;20082587;11014984;10644865;22860019;21866669;21554726;21288455;19916288;19755419;17986285;14674437;11179039;21275176;21108488;22401717;11375412;19797822;20406136;14550952;12622858;17502998;15259001;11705862;19951028;11876270;19506087;18837084 21224082;21244711;17611984;16532917;9558113;22198560;18588890;18586252;18569608;18565735;18557930;18552024;18508261;18506448;18503554;18496696;18483334;18480665;18472160;18469853;18468407;18459971;18449210;18447576;18439317;18426080;18366705;18360703;18323784;18314110;18298349;18276095;18261580;18259971;18212480;18194849;18178580;18164995;18097620;18089791;18060744;18035073;18030675;18028894;18027871;18025848;18025061;18006830;18006768;17996495;17990358;17980449;17949787;17921324;17919326;17901377;17765638;17714581;17709546;17697361;17669621;17663001;17625450;3027129;2167156;19643940;19639194;19634113;19628284;19620856;19608765;19590686;19551141;19527514;19508478;19507256;19507017;19504098;19497711;19489686;19480010;19442604;19432148;19427971;19424605;19379698;19336370;19318431;19307187;19303106;19302792;19296842;19282863;19279308;19250650;19243899;19197535;19188843;19132754;19099971;19094243;19056482;19055644;19054653;19040577;19020733;19019335;19006025;18988801;18952406;18853190;18852494;18851945;18835135;18823886;18818748;18807561;18802702;18798060;18755271;18719610;18710412;18705799;18676680;18674955;18636124;18634015;18625914;18625714;18621744;18619594;18619044;18617682;18602909;17607721;17599818;17589947;17564313;17558677;17543340;17537400;17508023;17488873;17475625;17473191;17441888;17434489;17429393;17383306;17373931;17363400;17352267;17339606;17335808;17316652;17311017;17303772;17245132;17178858;17151781;17145822;17125518;17109104;17077200;17050530;17035633;17033924;17009408;17000679;16990034;16972994;16972255;16967187;16945025;16937230;16921115;16921111;16912186;16899023;16890240;16877347;16850107;16807369;16774538;16767840;16767672;16739355;16714289;16676616;16638593;16623785;16580524;16569638;16538639;16453302;16424284;16410344;16405530;16386110;16359987;16356191;16353148;16321971;16311244;16302919;16301860;16288711;16278291;16278009;16273295;16267613;16256416;16214204;16213873;16210018;16202315;16168111;16128620;16103692;16098031;16080875;16076963;15965045;15957163;15955221;15944607;15939478;15930517;15879464;15866608;15864312;15855654;15832405;15818737;15817699;15804950;15767330;15754326;15737206;15728253;15707890;15701845;15688379;15661214;15654971;15654517;15638833;15617836;15612581;15611040;15610507;15534109;15528217;15499569;15489334;15476622;15467742;15459390;15383690;15375490;15350133;15337261;15319295;15308634;15291299;15288468;15288123;15274394;15257748;15200479;15194213;15184373;15182858;15149160;15142265;15127970;14986114;14982353;14962105;14764579;14730602;14729059;14707454;14707126;14705229;14692651;14679206;14669348;14659851;14626631;14581488;14558091;14550555;14515149;14512169;13129650;12969782;12960156;12949792;12904296;12880418;12873541;12861139;12837283;12788533;12787920;12784383;12767235;12706853;12692352;12676763;12672023;12667140;12651627;12572877;12528113;12517806;12515907;12477932;12432557;12393408;12229968;12225803;12177784;12149192;12145314;12071839;12060661;12054629;12054564;12050187;12034345;12032154;12009332;12005449;11934016;11918701;11836255;11831026;11824952;11762702;11751876;11598182;11586041;11528521;11485914;11381077;11359786;11359774;10986281;10947989;10922468;10706100;10419448;10224132;9737711;9688535;21170377;21382168;20039537;9484219;9063449;8921407;8609233;8278810;8226919;8216228;8125298;8090713;8031754;8027075;7998967;7896811;7656013;7641497;7523391;3037355;3032950;3030290;3009463;2557822;1645757;1311327;15972662;14982725;22210296;22333608;22573325;22655095;21909684;22390030;22439866;21232745;21440529;16248458;21108787;20219323;20357815;20463008;20463013;20584750;19723873;19787068;19789190;19821768;19836620;19883500;19885545;19892918;19901964;19902888;19906289;19911067;19923455;19951575;19953231;20031604;20038976;20078883;20095886;20102637;20111728;20204402;20392358;20435584;20437278;20452482;20453000;20460098;20467172;20471133;20483790;20484597;9920899;19708869;20701626;21251748;10859319;18597171;19170196;19246282;19345347;19381070;19383080;19398000;19435861;19464975;19489099;19542367;19543729;19550047;19551542;19577645;19578796;19584257;19585142;19591174;19610062;19625176;19659894;19664242;19681861;19692168;21241837;21345293;19575982;20160424;19602108;16191276;20225236;19915152;20091096;20452670;20873121;20485444;19913121;20538124;20565774;20587546;20609440;20616708;20628086;20628624;20648623;20655738;20662554;20673868;20706772;20808730;21154774;20201953;20855151;20192597;20826916;20827277;20852404;20860530;20935575;21048031;21070736;22853432;22863019;20702488;21410405;20060194;20813982;21042785;21279994;20617463;19134348;20971661;21432777;21454617;21519144;19734590;21039987;21244504;21143918;21761103;22868188;23060436;23155052;21161310;21424117;17181997;21357403;21547130;21531813;21835828;20455995;21277671;21336947;21591259;21707906;21451543;21640141;21344389;21935932;20423842;20517696;21144496;21397653;21673681;21670150;22965879;23603351;22515421;22819245;23222305;21637818;21481333;21925842;21952248;22207289;21606841;21715326;21539914;19661147;21523769;21672616;22184992;20979817;21694466;21709637;22117411;21890473;22030392;22286923;23608755;21872446;21966428;22011282;22005258;22024213;22993337;21544886;21948273;22092736;20301481;21753786;21756063;21757573;21770773;21858729;21881840;21964487;21964541;22177562;22253805;22369948;22712305;22992122;22992722;23322779;23063352;22341926;23389922;22580338;22367096;23500593;22901654;23313298;21988832;22442164;22683752;22922035;23098370;23239492;23253141;23116893;23497408;23504324;23147541;23650722;22776467;22936257;19736361;22487523 4312 B4DN15;P03956;Q53G95 ABBA01039931;AJ002550;AK024818;AK098450;AK130687;AK223034;AK223035;AK223036;AK223056;AK223281;AK225495;AK297723;AK301340;AMYH01003992;AP000619;AY769434;BC013118;BC013875;BT006874;BT020147;CH471065;DC385245;DQ399597;M13509;M15996;M16567;NG_011740;NM_001145938;NM_002421;U78045;X05231;X54925 AAA35699;AAA35700;AAA52033;AAB36941;AAH13118;AAH13875;AAP35520;AAV28732;AAV38949;ABD92796;ABM81655;ABM84830;BAD96754;BAD96755;BAD96756;BAD96776;BAD97001;BAG60077;BAG62888;CAA28858;CAA38691;EAW67031;NP_001139410;NP_002412;P03956 Hs.83169 1653581;1703478;1712110;1742571;1791792;1791796;1792474;1792476;1794890;1855507;2151235;2217616 G54104;GDB:197898;MMP1;MMP1_3098;PMC125702P3;PMC125702P5;PMC151710P3;PMC151710P4;PMC65699P1;RH17661;SHGC-11954;SHGC-82595 CLG;CLGN OTTHUMP00000045866;fibroblast collagenase;interstitial collagenase;matrix metalloprotease 1;matrix metalloproteinase 1;matrix metalloproteinase 1 (interstitial collagenase) APPROVED protein-coding ENSG00000196611 7155 00384 120353;226600;606963 REVIEWED 1318675 MMP20 matrix metallopeptidase 20 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011] 11 11 q22.3 101952776 102001273 - 102447566 102496063 - 1580863;6480464;7240710 9398237;18434575;18714142;17611094;15744043;15296943;11706946;10949161;10922468;10634581;10419448;8921407;22330321;19913121;20628086;19834535;19966041;20379614;20484597;21144496;21504268;21466263;23355523 9313 O60882 ABBA01039931;AJ296177;AMYH01003992;AP000851;AY673603;CH471065;NG_012151;NM_004771;Y12779 AAI52742;AAT70722;CAA73317;CAC14668;EAW67024;NP_004762;O60882 Hs.591946 1737769;1782380;1782382;2111770 D11S3368;D11S4471;SHGC-153582;SHGC-153765 AI2A2;MMP-20 OTTHUMP00000237846;enamel metalloproteinase;matrix metalloproteinase 20 (enamelysin);matrix metalloproteinase-20 APPROVED protein-coding ENSG00000137674 7167 05218 604629;612529 REVIEWED 1319622 MMP21 matrix metallopeptidase 21 This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013] 10 10 q26.13 127445012 127454380 - 127455022 127464390 - 1580863;6480464 18768525;18633436;17873896;16984259;16641547;15015597;14691307;12617721;12490321;11994741;19601983;19921252;21656525;21067565;21590459;23275114 118856 Q8N119 ABBA01034169;ABBA01034170;AF331526;AF520613;AL158835;AL360176;AMYH01003163;AY121358;AY885252;CH471066;NM_147191 AAI56369;AAI72493;AAM75352;AAM78033;AAM92903;AAW62254;EAW49230;NP_671724;Q8N119 Hs.314141 2109521;2183563 MMP21_1943;SHGC-57886 MMP-21 MMP-21;OTTHUMP00000020708;matrix metalloproteinase 21;matrix metalloproteinase-21 APPROVED protein-coding ENSG00000154485 14357 07003 608416 REVIEWED 1602337 MMP23A matrix metallopeptidase 23A (pseudogene) This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. [provided by RefSeq, Jul 2008] 1 1 p36.33 1619121 1623110 + 1631378 1633247 + 6480464 15483646;11328856;10949161;10419448;9988691;9750192;9740677;19965868 8511 ABBA01016066;AF057061;AF057062;AF086353;AL031282;AMYH01000145;NR_002946 AAC62617;AAC62618 Hs.671760 1663298;1663300;1754011;2152862;2164035 A002A02;D1S3527;HSC10E022;RH41826;SHGC-132055 MIFR;MIFR-1;MMP21 APPROVED pseudo ENSG00000215914 7170 04502 603320 PROVISIONAL 734118 MMP14 matrix metallopeptidase 14 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008] 14 14 q11.2 22375633 22386643 + 23305793 23316803 + 1582586;1582578;1582583;1582581;1582351;1582577;1582590;1582579;1582568;1582569;1582575;1582563;1582576;1582580;1582584;1582570;1582588;1580863;2314954;2314955;2314951;2314950;6480464;6484113;6907045;1582587 11034943;15920147;12452868;12477149;16820601;15963646;9724118;15300177;16609908;16461815;16147977;16077081;16037568;12526080;11877705;16171603;10731924;10878552;9848780;9158005;9751409;10773235 21146836;8015608;14718544;19330734;19286653;19272160;19248098;19243022;19232058;19211836;19208838;19197139;19147814;19123976;19074885;19047908;19023892;19020757;19010933;19006025;18955496;18927121;18829229;18802920;18784838;18663148;18661187;18655030;18617643;18602101;18571410;18566294;18541723;18519667;18495869;18454303;18441011;18428024;18423448;18413312;18368597;18354229;18329693;18307173;18267120;18227728;18223680;18206415;18196535;18174174;18164686;18045645;17991754;17962943;17943163;17938169;17928399;17886098;17670887;17669621;17668281;17650075;17640303;17618273;17591781;17525276;17475671;17425593;17332756;17329256;17283058;17219425;17189319;17175151;17153464;17140440;17099140;17081065;17050733;17050542;16983145;16971509;16956391;16877349;16776850;16686598;16636666;16627478;16551853;16551362;16525718;16525713;16473349;16425263;16419154;16281052;16234249;16219679;16140936;15967115;15911696;15901740;15882863;15878869;15841326;15831939;15756447;15743799;15665118;15632106;15558018;15554353;15528467;15525652;15516694;15489334;15466865;15466200;15450852;15381707;15381670;15351710;15350133;15276180;15260832;15247230;14729679;14707454;14673954;14670950;14645246;14597417;14583471;12904296;12879005;12869573;12810672;12727228;12672023;12661033;12587534;12488433;12477932;12473650;12464176;12427871;12393408;12372458;12220632;12194986;12185585;12169394;12149192;12145196;12115722;12054629;12004057;11970960;11928813;11920503;11917104;11911461;11854269;11844598;11839588;11809713;11779859;11773076;11751414;11741954;11448964;11382769;11178970;10949161;20706772;22564723;10947989;10930399;10922468;10721699;10529239;10419448;9724659;9688535;9461298;9422789;9119382;8804434;8706726;8663332;8663255;8530054;8216228;7998967;7721107;7708715;7649159;20946474;20608975;21193411;20579139;20233321;20586027;17067460;19136391;19339693;19406172;19409422;19458085;19487339;19509114;19523958;19551841;19571574;19577357;19586554;19610062;19654316;19667067;19753302;19780834;19820359;19887621;19901267;19934222;19961596;20050683;20056911;20110530;20198326;20452482;20453000;20483788;20484597;19855192;20589835;20605790;21062896;20666777;21048031;20215637;20660624;19709349;20471961;19913121;20471446;20529824;20587546;20599698;20628086;20628624;20634891;20673868;20724289;20721961;20837484;21288898;23413031;20629539;21057545;21239435;21176152;15563089;21512861;22835601;23166329;21372132;21276823;21518755;21549099;21419107;21706048;22002060;22338226;21298348;21641389;22534634;21669197;22963260;21571860;21777927;21858102;22002053;21795678;21832072;21628952;21846327;21965271;22893718;22922033;21139048;22330140;23236386;22342364;21925226;22123215;21993836;22007770;22118498;22138224;22159414;22200690;22006368;20809186;22038627;22407449;22678797;22679501;21671177;21988832;23357422;22527932;23394613;22855183;23314917;23756810;23783274;23787075;23796708;23812425;8621565;23373994;23629968;22922740;23102905;22327326;23548906 4323 F8VP90;F8W1B7;P50281 AB011056;ABBA01061286;AF158733;AK291325;AK312657;AL135998;AMYH01005599;AY795074;BC039581;BC064803;BQ009340;CH471078;D26512;HE978355;HY075830;NM_004995;U41078;X83535;X90925;Z48481 AAA83770;AAF24178;AAH64803;AAV40837;BAA05519;BAC53889;BAF84014;BAG35540;CAA58519;CAA62432;CAA88372;CCK73138;EAW66236;EAW66237;NP_004986;P50281 Hs.2399 1699456;1796326;5113046;5491340 MMP14_918;Mmp14;RH103319;RH91125 1;MMP-14;MMP-X1;MT-MMP;MT-MMP 1;MT1-MMP;MT1MMP;MTMMP1 MMP-14;MT-MMP 1;MT1MMP;OTTHUMP00000027917;matrix metalloproteinase 14 (membrane-inserted);matrix metalloproteinase 14, membrane-inserted;matrix metalloproteinase-14;membrane type 1 metalloprotease;membrane-type matrix metalloproteinase 1;membrane-type-1 matrix metalloproteinase APPROVED protein-coding ENSG00000157227 7160 02856 600754 REVIEWED 1323053 MMP17 matrix metallopeptidase 17 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene is considered a member of the membrane-type MMP (MT-MMP) subfamily. However, this protein is unique among the MT-MMP's in that it is a GPI-anchored protein rather than a transmembrane protein. The protein activates MMP-2 by cleavage. [provided by RefSeq, Jul 2008] 12 12 q24.3 130878894 130902272 + 132312941 132336316 + 1580863;6480464 22683712;22262494;8640782;16686598;14701864;14645246;12962706;12661033;12477932;10949161;10799478;10640822;10567400;10551873;10543448;10471807;10419448;9878265;20019845;20452482;20587546;20673868;19426156;21828052 4326 F5GWR3;F5GZA7;F5H209;F5H249;F5H846;F5H881;Q8IWC3;Q9ULZ9 AB021225;ABBA01032802;AC131009;AMYH01004899;BC040507;BC045610;BX389435;CA489162;CH471054;NM_016155;X89576 AAH40507;AAH45610;BAA82707;CAA61753;EAW98528;NP_057239;Q9ULZ9 Hs.709245 1678035;1678661;2120832;2180582 RH46995;RH48667;RH80241;RH91194 MT4-MMP MMP-17;MT-MMP 4;MT4MMP;MTMMP4;OTTHUMP00000237716;OTTHUMP00000237719;matrix metalloproteinase 17 (membrane-inserted);matrix metalloproteinase-17;membrane-type matrix metalloproteinase 4;membrane-type-4 matrix metalloproteinase APPROVED protein-coding ENSG00000198598 7163 03793 602285 REVIEWED 1318995 MMP15 matrix metallopeptidase 15 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. [provided by RefSeq, Jul 2008] 16 16 q13 56616783 56638306 + 58059282 58080805 + 1580863;2290417;2314949;2314952;2314950;6480464 15928670;15895410;19595018;9751409 7559440;7649159;15248212;17029196;16983145;16825197;15489334;14645246;12661033;12477932;11824946;10949161;10419448;9461298;9119382;9070935;20586027;20117087;20452482;19913121;20587546;20628086;20673868;21036765;21751260;21139048;21946350;22576687;21963094;23284291;22768148 4324 H3BT97;P51511 ABBA01025290;AC012182;AMYH01007705;AW161057;BC006412;BC036495;BC055428;BF507560;BT006715;CH471092;D85510;D86331;EF032329;NM_002428;Z48482 AAH36495;AAH55428;AAP35361;ABJ53423;BAA13071;BAA22225;CAA88373;EAW82965;EAW82966;NP_002419;P51511 Hs.80343 1682561;5113758 RH80095;RH91809 MT2-MMP;MTMMP2;SMCP-2 MMP-15;MT-MMP 2;MT2MMP;OTTHUMP00000164671;matrix metalloproteinase 15 (membrane-inserted);matrix metalloproteinase-15;membrane-type matrix metalloproteinase 2;membrane-type-2 matrix metalloproteinase APPROVED protein-coding ENSG00000102996 7161 03775 602261 REVIEWED 7243077 MMP24-AS1 MMP24 antisense RNA 1 16344560;8889548 101410538 BM690891;BQ930800;BQ943998;BQ953249;BU159548;BU527050;CB988153;CN479177;HY005765;NR_102705;NR_102706 1730159;1818988;1820390;1849727;1972396;1972398;1972400;1972402;1972406 A001X38;D20S123E;ECD10559;ECD11270;REN57083;REN57084;REN57085;REN57086;REN57088 miscrna 44421 VALIDATED 735917 MMP16 matrix metallopeptidase 16 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010] 8 8 q21.3 89118576 89408833 - 89049460 89339717 - 6480464 7559440;19240061;18784838;17419254;17217338;16983145;16344560;15489334;15044209;14741217;14645246;12879005;12661033;12477932;11278606;11230166;10949161;10419448;9396633;9119382;9110174;9092507;9070935;8619474;15380516;19265686;20207250;20452482;19913121;20587546;20628086;20673868;21048031;22164270;22348245;22688191;21926974;22417934;23453885 4325 E5RJA7;P51512 AB009303;ABBA01037379;ABBA01037380;ABBA01037381;AC037450;AC090575;AC090797;AC090980;AK314274;AL136588;AL832595;AMYH01018866;AMYH01018867;BC069500;BC075004;BC075005;CH471060;D83646;D83647;D85511;DA575789;DQ003082;DR002176;NM_005941;U79292 AAH69500;AAH75004;AAH75005;AAX84515;BAA12022;BAA12023;BAA22226;BAA23742;BAG36934;CAB66523;EAW91651;EAW91652;NP_005932;P51512 Hs.492187;Hs.546267 1677666;1714691;1715047;1719143;1724173;1735786;1735790;1735818;1746067;1778542;1796328;2126705;2169854;2173410;5018909 A008T27;A008X11;AB021228;D5Wox36;D8S1400E;D8S1404E;D8S1425E;MMP16_920;RH120010;RH120085;RH121221;RH123289;RH91779;UniSTS:495993;WI-21150 C8orf57;DKFZp761D112;MMP-X2;MT-MMP2;MT-MMP3;MT3-MMP MMP-16;MT-MMP 3;MT3MMP;MTMMP3;OTTHUMP00000224791;Putative transmembrane protein C8orf57;matrix metalloproteinase 16;matrix metalloproteinase-16;membrane-type matrix metalloproteinase 3;membrane-type-3 matrix metalloproteinase APPROVED protein-coding 7162 03776 602262 REVIEWED 1315373 MMP27 matrix metallopeptidase 27 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008] 11 11 11 q24 99723614 99737667 - 102067625 102081678 - 102562415 102576468 - 6480464 12975309;10419448;19913121;20628086;20484597 64066 Q9H306 ABBA01039931;AF195192;AMYH01003992;AP000647;AP000851;AY358752;BX102293;CH471065;NM_022122 AAG28453;AAI40434;AAQ89112;EAW67026;NP_071405;Q9H306 Hs.534479 1681775;2168779;2217618 D11S1192;MMP27_2856;RH92831 MMP-27 OTTHUMP00000237909;matrix metalloprotease 27;matrix metalloproteinase 27;matrix metalloproteinase-27 APPROVED protein-coding ENSG00000137675 14250 07025 REVIEWED 732592 MMP24 matrix metallopeptidase 24 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 by cleavage. The gene has previously been referred to as MMP25 but has been renamed MMP24. [provided by RefSeq, Jul 2008] 20 20 q11.2 33278106 33328218 + 33814539 33864804 + 1580863;6480464 10363975;18391951;18062926;17952761;14990567;12879005;12661033;12477932;11780052;11457723;10640822;10419448;19913121;20546612;20587546;20628086;18839057;19403421 10893 Q86VV6;Q9Y5R2 AB021227;ABBA01019165;AF131284;AL121753;AMYH01011873;BC047614;CH471077;DQ300264;NM_006690;R60687 AAD42962;AAH47614;AAI72450;ABC17785;BAA82967;EAW76222;NP_006681;Q9Y5R2 Hs.715494 1730159;1745949;1796330;1799242;1800336;1800540;1803584;1809286;1812002;1818054;1820390;1822426;1823232;1827450;1831358;1831796;1831798;1833848;1835602;1839196;1839834;1843392;1843948;1972216;1972218;1972220;1972222;1972224;1972226;1972228;1972230;1972232;1972234;1972236;1972238;1972240;1972242;1972244;1972246;1972248;1972250;1972252;1972254;1972256;1972258;1972260;1972262;1972264;1972266;1972268;1972270;1972272;1972274;1972276;1972278;1972280;1972282;1972284;1972286;1972288;1972290;1972292;1972294;1972296;1972298;1972300;1972302;1972304;1972306;1972308;1972310;1972312;1972314;1972316;1972318;1972320;1972322;1972324;1972326;1972328;1972330;1972332;1972334;1972336;1972338;1972340;1972342;1972344;1972346;1972348;1972350;1972352;1972354;1972356;1972358;1972360;1972362;1972364;1972366;1972368;1972370;1972372;1972374;1972376;1972378;1972380;1972382;1972384;1972386;1972388;1972390;1972392;1972394;1972396;1972398;1972400;1972402;2184980;2214992;2214994;2214996;2214998;2215000;2215002;2215004;2215006;2215008;2215010;2215012;2215014;2215016;2215018;2215020;2215022;2215024;2215026;5116822 A003A31;D20S123E;ECD00469;ECD01027;ECD01130;ECD02694;ECD05633;ECD07006;ECD10083;ECD11270;ECD12301;ECD12705;ECD14841;ECD16815;ECD17035;ECD17036;ECD18070;ECD18957;ECD20778;ECD21100;ECD22905;ECD23186;MMP24_1521;REN56993;REN56994;REN56995;REN56996;REN56997;REN56998;REN56999;REN57000;REN57001;REN57002;REN57003;REN57004;REN57005;REN57006;REN57007;REN57008;REN57009;REN57010;REN57011;REN57012;REN57013;REN57014;REN57015;REN57016;REN57017;REN57018;REN57019;REN57020;REN57021;REN57022;REN57023;REN57024;REN57025;REN57026;REN57027;REN57028;REN57029;REN57030;REN57031;REN57032;REN57033;REN57034;REN57035;REN57036;REN57037;REN57038;REN57039;REN57040;REN57041;REN57042;REN57043;REN57044;REN57045;REN57046;REN57047;REN57048;REN57049;REN57050;REN57051;REN57052;REN57053;REN57054;REN57055;REN57056;REN57057;REN57058;REN57059;REN57060;REN57061;REN57062;REN57063;REN57064;REN57065;REN57066;REN57067;REN57068;REN57069;REN57070;REN57071;REN57072;REN57073;REN57074;REN57075;REN57076;REN57077;REN57078;REN57079;REN57080;REN57081;REN57082;REN57083;REN57084;REN57085;REN57086;RH135475;sY3200;stSG636480;stSG636481;stSG636482;stSG636483;stSG636484;stSG636485;stSG636486;stSG636487;stSG636488;stSG636489;stSG636490;stSG636491;stSG636492;stSG636493;stSG636494;stSG636495;stSG636496;stSG636497 MMP-24;MMP25;MT-MMP 5;MT-MMP5;MT5-MMP;MT5MMP;MTMMP5 MMP-24;MT-MMP 5;MT5MMP;MTMMP5;OTTHUMP00000206098;matrix metalloproteinase 24 (membrane-inserted);matrix metalloproteinase-24;membrane-type 5 matrix metalloproteinase;membrane-type matrix metalloproteinase 5;membrane-type-5 matrix metalloproteinase APPROVED protein-coding ENSG00000125966 7172 05338 604871 REVIEWED 1322803 MMP19 matrix metallopeptidase 19 This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] 12 12 q14 54515481 54523002 - 56229214 56236735 - 1642023;1642025;1642022;6480464 12529376;11438176;15169894 15239678;9020145;10809722;18161657;17980449;17195013;15868410;15489334;12937269;12516088;12477932;11801661;10949161;10922468;10903435;10419448;10415718;9562866;9232430;8920941;8125298;20098411;20142769;20452482;17207965;19913121;20628086;20673868;21261556;10372554;10388526;11592092;12735638;14708597;14708598;15185874;15241558;15840104;16298901;17083473;17337906;19383643;19585142;19843707;21165953;21344390;21371008;21410660;21955474;9651395;22859522;21787393;22576687;22855183 4327 A6ND33;B4DNP3;B4E030;F8W1C3;Q99542 ABBA01008390;ABBA01008391;AC023055;AK225939;AK297999;AK303202;AL545199;AMYH01004497;AY706993;BC030206;BC050368;BI761698;CH471054;NM_001272101;NM_002429;NR_073606;U37791;U38320;U38321;U38322;U38431;U89651;X92521;Y08622 AAB63007;AAB63008;AAB63009;AAC51521;AAC99995;AAH50368;AAT97983;ADQ33096;BAG60305;BAG64292;CAA63299;CAA69913;EAW96844;EAW96845;NP_001259030;NP_002420;Q99542 Hs.591033 1672887;1677052;1755855;1767682;2129202;2141730;2177276;5017611 A005E01;D12S2129;MMP19;RH65857;RH80350;SHGC-142692;SHGC-37198;WI-20946 MMP18;RASI-1 MMP-18;MMP-19;OTTHUMP00000243264;OTTHUMP00000243759;matrix metalloproteinase 18;matrix metalloproteinase 19;matrix metalloproteinase RASI;matrix metalloproteinase-18;matrix metalloproteinase-19;matrix metalloproteinase-beta19 APPROVED protein-coding 7165 03486 601807 REVIEWED 1344169 MMP23B matrix metallopeptidase 23B This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008] 1 1 p36.3 1557423 1559893 + 1567560 1570030 + 1580863;6480464 9988691;9740677;16710414;15489334;15483646;12477932;11328856;10949161;10419448;9750192 8510 B4DMZ6;D6REP6;H0Y6I4;H0YA69;H0YAE5;J3KRS4;O75086;Q7LDM7 AB010961;AB010962;AB031068;ABBA01016062;AF055334;AF056200;AJ005256;AK297700;AL691432;BC025719;NM_006983 AAC62616;AAC63527;AAC63528;AAC63529;AAH25719;BAA24833;BAA24834;BAA92769;BAG60058;CAB38176;NP_008914;O75900 Hs.192316 MIFR;MIFR-1;MMP22;MMP23A MMP-21;MMP-22;MMP-23;OTTHUMP00000083434;OTTHUMP00000083435;OTTHUMP00000220711;femalysin;matrix metalloproteinase 22;matrix metalloproteinase in the female reproductive tract;matrix metalloproteinase-21;matrix metalloproteinase-22;matrix metalloproteinase-23 APPROVED protein-coding ENSG00000189409 7171 04503 603321 REVIEWED 730821 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades type IV collagen, the major structural component of basement membranes. The enzyme plays a role in endometrial menstrual breakdown, regulation of vascularization and the inflammatory response. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Two transcript variants encoding different isoforms have been found for this gene. 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4313 H3BR66;H3BS34;H3BV48;J3KRB7;P08253 ABBA01066524;ABBA01066525;AC007336;AJ298926;AK301536;AK310314;AK312711;AL046162;AL542407;AL832088;AMYH01007681;AU279927;AY738117;BC002576;BQ004983;CA446916;CH471092;DA993141;DB059054;DB154582;DQ385623;FB571114;FB668245;J03210;M33789;M55582;M55583;M55584;M55585;M55586;M55587;M55588;M55589;M55590;M55591;M55592;M55593;M58552;NG_008989;NM_001127891;NM_004530;U96098;X58968 AAA35701;AAA52027;AAA52028;AAH02576;AAU10089;ABD38929;ABM82878;ABM86064;BAG35588;BAG63035;CAR95108;CAS92766;EAW82824;EAW82825;EAW82826;EAW82827;EAW82828;NP_001121363;NP_004521;P08253 Hs.513617 1725681;1738861;1770384;1792988;1796332;1853160;2125508;2180991 D16S2904;G62045;MMP2_210;PMC179881P2;RH69324;STS-M55593;STS-W44530;WI-18839 CLG4;CLG4A;MMP-II;MONA;TBE-1 72 kDa gelatinase;72 kDa type IV collagenase;MMP-2;OTTHUMP00000164261;collagenase type IV-A;gelatinase A;matrix metalloproteinase 2 (gelatinase a, 72kda gelatinase, 72kda type iv collagenase);matrix metalloproteinase-2;matrix metalloproteinase-II;neutrophil gelatinase APPROVED protein-coding ENSG00000087245 7166 00386 120360;259600 REVIEWED 1317990 MMP25 matrix metallopeptidase 25 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008] 16 16 p13.3 3036683 3050728 + 3096682 3110727 + 1580863;6480464 11226436;10628838;10706098;12493773;18936094;17513868;15149845;14755462;14583471;12860995;12477932;11282999;11034316;10419448;9653642;8663332;19913121;20587546;20628086;20672350;19726693;19834535;20237496;20308072;20337648;20501611;22367194 64386 Q9NPA2 AB042328;ABBA01026726;AC108134;AF145442;AF185270;AJ003144;AJ003147;AJ239053;AJ272137;AMYH01007089;BC111412;CB529891;CH471112;NM_022468 AAF66697;AAG17007;AAI67800;BAB20584;CAA05900;CAA05902;CAB94713;CAC03490;EAW85413;EAW85415;NP_071913;Q9NPA2 Hs.654979 1676522;1703214;1847889;2142717;2181119 RH15736;RH68424;SGC32543;SHGC-61127;WI-15307 MMP-25;MMP20;MMP20A;MMPL1;MT-MMP 6;MT-MMP6;MT6-MMP;MT6MMP;MTMMP6 leukolysin;matrix metallopeptidase-like 1;matrix metalloproteinase 20;matrix metalloproteinase 25;matrix metalloproteinase-25;matrix metalloproteinase-like 1;membrane-type 6 matrix metalloproteinase;membrane-type matrix metalloproteinase 6;membrane-type-6 matrix metalloproteinase APPROVED protein-coding ENSG00000008516 14246 07090;07492 608482 REVIEWED 1353163 MMPL1 matrix metalloproteinase-like 1 1580863 9653642 4328 O43923 AJ003144;NM_004142 7177 1323102 MMP28 matrix metallopeptidase 28 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] 17 17 q21.1 31116989 31146753 - 34092876 34122640 - 1580863;6480464 11121398;11255011;19379669;18778487;15953044;15593191;15185874;14730609;14506071;12975309;12477932;12164918;11574168;16344560;19375502;19921252;20003223;20144149;21723775;21615884;21801383;22040290 79148 K7ELN8;K7EMV8;K7ENP0;K7ERF8;Q9H239 AA813101;ABBA01011234;ABBA01011235;AC006237;AC015849;AF219624;AF315683;AF330002;AF336346;AK122604;AMYH01008355;AY358987;BC002631;BC011774;CH471147;DA761282;DA768574;NM_001032278;NM_024302 AAG41981;AAH02631;AAH11774;AAK01480;AAK01706;AAL15619;AAQ89346;ADZ15905;BAG53618;EAW80128;EAW80129;NP_001027449;NP_077278;Q9H239 Hs.380710 1335292;1797868 D17S1833;MMP28_924.2 EPILYSIN;MM28;MMP-28;MMP25 matrix metalloproteinase 28;matrix metalloproteinase-28;matrix metalloproteinase-28; putative MMP28 gene product;putative MMP28 gene product APPROVED protein-coding ENSG00000129270 14366 07464 608417 REVIEWED 1347422 MMP26 matrix metallopeptidase 26 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein degrades type IV collagen, fibronectin, fibrinogen, casein, vitronectin, alpha 1-antitrypsin, alpha 2-macroglobulin, and insulin-like growth factor-binding protein 1, and activates MMP9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. [provided by RefSeq, Jul 2008] 11 11 p15 4966000 4970235 + 5009424 5013659 + 1580863;6480464 19895737;10987280;10801841;19336475;18765015;18210030;17873896;17176253;16984259;16940965;16809379;16641547;15816845;15625428;15601912;15574774;15489334;15350356;15333466;15273280;14744773;14532275;12969699;12586837;12477932;12119297;11931652;11889136;11389678;10824119;10419448;11841844;20628624;19448419;19674198;19921252;19956866;20074375;20230842;20491537;21805034;21255765;21945733 56547 Q9NRE1 ABBA01028642;AC018375;AF230354;AF248646;AF291664;AF291665;AJ251531;AMYH01003362;BC101541;BC101543;CH471064;NM_021801 AAF80180;AAF82359;AAG00603;AAG02470;AAI01542;AAI01544;CAC08821;EAW68817;NP_068573;Q9NRE1 Hs.204732 1806126;1807818;1811456;1811710;1814772;1818150;2050382;2050384;2050386;2050388;2050390;2050392;2050394;2050396;2050398;2050400;2050402;2050404;2050406;2050408;2050410;2050412;2050414;2050416;2050418;2050420;2050422;2050424;2050426;2050428;2050430;2050432;2105204;2105206;2105208;2105210 ECD04017;ECD04884;ECD06728;ECD06859;ECD08417;ECD10132;REN96344;REN96345;REN96346;REN96347;REN96348;REN96349;REN96350;REN96351;REN96352;REN96353;REN96354;REN96355;REN96356;REN96357;REN96358;REN96359;REN96360;REN96361;REN96362;REN96363;REN96364;REN96365;REN96366;REN96367;REN96368;REN96369;stSG610671;stSG610672;stSG610673;stSG610674 MGC126590;MGC126592 MMP-26;OTTHUMP00000069244;endometase;matrilysin 2;matrilysin-2;matrix metalloproteinase 26;matrix metalloproteinase-26 APPROVED protein-coding ENSG00000167346 14249 05683 605470 REVIEWED 736005 MMP7 matrix metallopeptidase 7 (matrilysin, uterine) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 q21-q22 101896449 101906688 - 102391239 102401478 - 1582393;1582373;1582385;1582397;1582388;1582381;1580863;1302333;2298522;5129528;6480464;6484113;6907045;7207145 15762290;16769909;15132981;15489001;15976963;11406539;12923405;17352221;19596921;7616276 8125298;22246095;1497627;19420105;19329997;19317620;19303106;19266094;19231585;19221016;19181662;18006768;17728005;17695544;17672933;17671679;17607721;17564313;17554258;17507989;17502620;17487834;17396032;17373931;17310281;17219436;17209789;17153464;17145868;17145820;17129995;17125518;17114341;17038551;17029196;17009258;17009118;16956593;16940985;16804904;16494848;16476739;16474379;16474169;16455621;16405530;16356191;16286510;16278009;16142384;16115946;16097959;15979995;15930031;15894268;15866216;15860507;15809719;15800927;15725655;15696117;15652345;15618645;15523695;15489334;15375490;15342556;15239678;15149334;15102692;15040016;14744783;14516315;12963695;12958188;12808021;12759346;12759241;12684625;12579270;12477932;12464266;12117418;12112311;12034400;12034345;12005165;11983918;11979071;11927011;11925859;11841844;11825873;11801551;11729324;11718469;11701474;11375993;11326276;11323016;11320086;11247893;11220743;10986281;10859319;10504457;10419448;9888422;9737711;9548733;9360944;9349239;9344615;9148753;8978768;8921407;8786845;8294454;8216228;19173304;19132754;19121849;19094228;19022775;19020757;19016757;18974372;18958543;18955490;18931651;18823373;18805052;18798254;18768525;18721140;18715618;18713744;18695873;18674869;18653469;18648013;18644839;18636198;18600430;18548257;18511876;18500535;18485588;18448157;18447576;18422740;18411043;18385523;18364512;18340552;18329694;18308831;18214300;18202161;18179407;18036564;18023162;17181997;22076613;7980522;7896811;7756291;7694569;2844164;2550050;2253219;15543138;22047080;20939893;16248458;20359117;20853162;21481787;20139113;20584750;20180812;20132413;21315773;20192597;20826916;20827277;21048031;20680712;20491537;20605794;16200075;17718429;19360357;19421758;19435861;19465902;19505922;19586554;19608871;19634113;19643940;19654318;19676133;19679556;19682489;19690403;19701966;19724852;19730683;19785773;19787626;19789190;19834535;19929564;20007614;20040080;20096949;20113256;20230842;20300917;20347338;20360147;20452482;20484597;19690958;21116502;19000448;20375326;20156184;20587546;20605361;20624652;20628624;20662554;20673868;20707923;20730428;20872971;20372795;20736794;20146992;19728912;21302026;21165404;20473942;22368250;22957090;22582975;22957785;21455340;20219015;22024063;22095947;22936257;21764478;21516345;21858178;21593056;21255765;20979817;21707759;21814482;22042554;21912055;21787888;22883281;23065739;21722074;22051851;22524815;22645147;21981819;22113040;21901248;21999204;22089237;22215634;22227189;21517234;22200690;21935919;22268124;22292085;22131018;22417142;21336735;20813660;23300791;22631636;22974215;22645431;22944341 4316 P09237;Q53GF1 ABBA01039931;AI675414;AK222980;AK293359;AK309687;AMYH01003992;AP001830;AY795972;BC003635;BP332706;CH471065;DQ399600;GN341824;L22520;L22521;L22522;L22523;L22524;NM_002423;X07819;Z11887 AAC37543;AAH03635;AAV40839;ABD92799;ABM84058;ABW03571;BAD96700;BAG56875;CAA30678;CAA77942;CAY39331;EAW67023;NP_002414;P09237 Hs.2256 2121115;5122364 RH46951;SGC35374 MMP-7;MPSL1;PUMP-1 OTTHUMP00000045867;matrilysin;matrin;matrix metalloproteinase 7;matrix metalloproteinase 7 (matrilysin, uterine);matrix metalloproteinase-7;pump-1 protease;uterine matrilysin;uterine metalloproteinase APPROVED protein-coding ENSG00000137673 7174 01525 178990 REVIEWED 1345848 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 q22.3 102211738 102219552 - 102706528 102714342 - 1580550;1580551;1580553;1580863;2290426;1302825;2325859;2325862;2325860;2325955;2325962;2325935;2325775;2325929;2325934;5129491;6480464;6907045;7207058;7207084;7207089;7240710;7207067;7207048;7207128;7241226;7241231;7241233;7241249;7241252;7241253;7241254;7241255;7207064;7207131;7207065;7207049 15823277;15467919;12364729;17083784;15238617;20472983;19961752;20153826;16140193;15099024;16977379;20515599;17094476;17027671;20216542;19321798;16164636;16128596;15319295;20616161;7639798;22845765;20703013;19551141;9211353;16509766;15034162;11796404;11095647;19221176;15194590;17125518;17893005 21443102;10639284;22122951;21853476;22121090;22587600;16302209;16278009;16238676;16202315;16158251;16102106;16100452;16088212;16082623;16080875;15993717;15955221;15944607;15894268;15879464;15863497;15763339;15757531;15748780;15716694;15701845;15667946;15665388;15640153;15610507;15546966;15529384;15528217;15489334;15474069;15389640;15383690;15355616;15342709;15337261;15319302;15312099;15308783;15290728;15288468;15274394;15234427;15203551;15194213;15172469;15161710;15142265;15102660;15094779;15084374;15070833;15033492;15009479;14998290;14984923;14718574;14715248;14712311;13129650;12952836;12880418;12876636;12867428;12866026;12837283;12832381;12821236;12810672;12784383;12761889;12750310;12736398;12727228;12651627;12634064;12572877;12485468;12477941;3360803;18029348;19527514;19522160;19508478;19507256;19507017;19504098;19479237;19432148;19376102;19337798;19336475;19318431;19293200;19279308;19275880;19268777;19263529;19245826;19238444;19212832;19180518;19165649;19159011;19155066;19132754;19131662;19100060;19065524;12477932;12473595;12432557;12385578;12230559;12229968;12205736;12204805;12149192;12124858;12103254;12071839;12054629;12054564;12034715;12034345;12009331;11988625;11982752;11977998;11841844;11841344;11836255;11827795;11751414;11546917;11485914;11438501;11380116;11327577;11297453;11116068;10986281;10967118;10947989;10922468;10877850;10669564;19064570;19056482;19019896;19019335;19008710;19005290;18974705;18830194;18818748;18818437;18810583;18801353;18760468;18674955;18674944;18636124;18634015;18619594;18609140;18606478;18573993;18571835;18566588;18541955;18513389;18496696;18485900;18469698;18445105;18426080;18363112;18342317;18308831;18303200;18275497;18262287;18237197;18234553;18225577;18220784;18212480;18172013;18091353;18077489;18076359;18063811;18035073;18028894;18007247;18006768;17975717;17958893;17942123;17929133;17922906;17919326;17911432;17901377;17875574;17765638;17763953;17763214;17719307;17710450;17703334;17672933;17669621;17664256;17617837;17617834;17607721;17589947;17564313;17559909;17543900;17537400;17530713;17502998;17473191;17471097;17436000;17434489;17383306;17381556;17373931;17320799;17319946;17316907;17316652;17198194;17182940;17178858;17151781;17145822;17137622;17077200;17065356;17058024;17033924;17027562;17024375;17003494;17000887;17000679;16998253;16984617;16972994;16972255;16972019;16937230;16935611;16919028;16905683;16904077;16899023;16871440;16822591;16802342;16739355;16677108;16629857;16615041;16532917;16516860;16430740;16424284;16405530;16356191;16323393;16311244;10543949;10422833;10419448;9888835;9873489;9827994;9792098;9760240;9737711;9733482;9558113;9548733;9288970;9083493;8957070;8921407;8740360;8662692;8535233;8486377;8216228;8125298;7998967;7694569;7656014;7523391;3477804;3030290;2785989;2605216;2383557;11824472;15788677;15972662;22057989;22210296;22628530;21190865;21321996;19614693;21108787;20472558;20584750;11375993;12834347;19381070;19435861;19438845;19559392;19576586;19578796;19585142;19628284;19643940;19664242;19678938;19729601;19731200;19762026;19770597;19778329;19786072;19789190;19834535;19836620;19843588;19892918;19906289;19923455;19948975;19949639;20009418;20031604;20038976;20082876;20092902;20113256;20142115;20204402;20211321;20302034;20346360;20359947;20374310;20385826;20435584;20436380;20437586;20452482;20453000;20467172;20483790;20484597;20541269;9148753;21206012;21212676;21228692;21345293;19690958;20873121;19042922;20655856;20609072;19913121;20485444;20538124;20574775;20587546;20609440;20616708;20622166;20628086;20628624;20630073;20672350;20673868;20707923;20740392;20731042;20360864;20640910;17207965;20802378;20822909;20827277;20853681;20935575;20948207;20959880;21037509;21048031;20832538;20936527;21150162;21187770;21277817;20654099;20215736;21227015;21103065;21183746;21454617;21244504;22671570;22868188;22786680;22836729;21232745;21330369;21454822;21451793;17181997;21357403;20455995;20942234;21336947;21707906;21867693;21935932;23564449;22457004;21113741;21782982;22089392;20708412;21872914;21481333;21667159;22207289;21900582;21134112;21111627;21871427;21247370;22114952;22204652;22531699;22832961;22278305;22314025;22862420;23409137;21917825;21925226;22455335;22265821;21601886;21219546;21753786;21802713;21948134;22092736;22175304;22184093;22222271;22888638;21770773;22027013;22515887;22134873;22730240;22922035;23608488;22927007;22776467;22241750;21431945;22819245;22965799;23123160;22890115 4314 E9PKX2;H7C139;P08254 ABBA01039931;AF405705;AI628953;AK223283;AK223291;AK313310;AMYH01003992;AP000789;BC069676;BC069716;BC074815;BC074869;BC105954;BC107490;BC107491;CH471065;DQ399598;J03209;J04732;M30460;NG_012100;NM_002422;U51914;U78045;X05232 AAA36321;AAB36942;AAH69676;AAH69716;AAH74815;AAH74869;AAI05955;AAI07491;AAI07492;AAK95247;AAN86644;AAO65616;ABD92797;ADQ31916;BAD97003;BAD97011;BAG36115;CAA28859;EAW67032;NP_002413;P08254 Hs.375129 1661212;1794922;2115489;2217620 D14S1188;MMP3_2663;PMC85083P2;STS-X05232 CHDS6;MGC126102;MGC126103;MGC126104;MMP-3;SL-1;STMY;STMY1;STR1 OTTHUMP00000045949;matrix metalloproteinase 3 (stromelysin 1, progelatinase);matrix metalloproteinase-3;proteoglycanase;stromelysin-1;transin-1 APPROVED protein-coding ENSG00000149968 7173 01703 185250;614466 REVIEWED 1351878 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage. Its function is degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008] 11 11 q22.3 102088540 102100868 - 102582526 102595685 - 1582626;1582641;1580863;2306084;2298552;2306086;2298553;6480464;7207131;1582587 16339461;16432074;14602136;18366705;10502722;17974962;15194590;10773235 19159011;15187163;2164002;16192646;19527514;19442604;19358835;19330028;19180518;20809029;19124506;19094243;19074885;19064570;19019335;18980523;18818748;18768525;18700005;18626311;18428024;18278188;17932311;17728507;17567680;17473191;17418871;17178858;16940985;16928431;16877349;16872847;16259988;16242329;16134994;15888067;15661397;15489334;15367487;15042023;14550288;12477932;12149192;12117418;12101112;12054629;11731274;11400153;10986281;10949161;10922468;10859319;10419448;10353844;9737711;9688535;9655333;9578462;9558113;9249047;9042108;8921407;8639592;8631924;8397318;8307185;8216228;8137810;7998967;7656015;2176876;2169766;2169256;2159879;1662606;1646048;1330697;17584650;19460733;19674746;19708869;19745165;19751716;19834535;19880617;20042585;20371206;20442866;20452482;20484597;20356362;20621951;20659259;20184870;21196908;20708200;19913121;20485444;20587546;20628086;20673868;20453486;19995403;20626027;20140262;21048031;20889295;21432777;21515330;21437624;21697883;21642878;22113040;21857935;21920499;22311494;19850743;21872914;21925226;21906737;22179173;22092455;21994255;22808470 4317 E9PIY7;E9PJB3;E9PL87;H7C1M3;P22894 ABBA01039931;AK292659;AK303388;AK303511;AK313374;AMYH01003992;AP000647;BC074988;BC074989;BC144094;CH471065;DQ141306;DW009698;J05556;NG_012101;NM_002424 AAA88021;AAH74988;AAH74989;AAZ38714;BAF85348;BAG64444;BAG64542;EAW67027;NP_002415;P22894 Hs.161839 1742509;1796334;2160297 D11S4330;GDB:197833;MMP8_926 CLG1;HNC;MMP-8;PMNL-CL OTTHUMP00000236265;OTTHUMP00000236267;PMNL collagenase;matrix metalloproteinase 8 (neutrophil collagenase);matrix metalloproteinase-8;neutrophil collagenase APPROVED protein-coding ENSG00000118113 7175 00385 120355 REVIEWED 1351083 MMVP2 myxomatous mitral valve prolapse 2 7240710 12707861 352956 1336021;1337036 D11S1331;D11S1923 19145 1352887 MMRN1 multimerin 1 Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008] 4 4 q22 91035075 91094803 + 90816052 90875780 + 1580863;6480464 9189649;8514871;19175495;19132231;18452976;16363244;16335952;16263699;15849733;15583744;15489334;15452129;12665801;12477932;10828608;9798985;9454761;9372017;8652809;7629143;19915575;20237496;21058943;17955473 22915 E7EPG1;Q13201 ABBA01063569;ABBA01063570;AC093759;AK125557;AK302421;AK313566;AMYH01014389;BC063848;BM126740;CH471057;NG_032895;NM_007351;U27109 AAC52065;AAH63848;AAY40957;ADR82763;BAC86201;BAG36340;BAH13704;EAX06037;EAX06038;NP_031377;Q13201 Hs.268107 1654928;1674155;1796336;2133650;2177703 MMRN_212;SHGC-34230;SHGC-59264;SHGC-59682;SHGC-59858 ECM;EMILIN4;GPIa*;MMRN EMILIN-4;OTTHUMP00000161558;OTTHUMP00000219844;elastin microfibril interface located protein 4;elastin microfibril interfacer 4;endothelial cell multimerin;glycoprotein Ia*;multimerin-1 APPROVED protein-coding ENSG00000138722 7178 03267 601456 REVIEWED 1348081 MN1 meningioma (disrupted in balanced translocation) 1 Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008] 22 22 q12.1 26474265 26527486 - 28144265 28197486 - 1600423;1600424;1624321;1580863;6480464;7240710 7731706;7731705;16398473 21600651;18029348;19451432;19240061;18632758;17698380;17525718;17494859;17242174;16105979;16081688;15890672;15461802;15302935;12569362;8786123;22409215;19391034;19561324;20072157;22905229;21828125;22488406;22219177 4330 H7C105;Q10571 ABBA01055216;AL031591;AL390210;AMYH01012685;CH471095;EF540994;FO393416;NG_023258;NM_002430;X82209;Z70218 AAI52906;AAI56880;ABQ01232;CAA57693;CAA94179;CAK54441;CAK54740;EAW59741;EAW59742;NP_002421;Q10571 Hs.268515 1340926;1645029;1695306;1760307;1774260;1778122;1790245;2126955 D22S535;D22S631;D22S968E;SHGC-133061;SHGC-31555;SHGC-63495;SHGC-63496;SW2612 MGCR;MGCR1;MGCR1-PEN;dJ353E16.2 OTTHUMP00000198844;OTTHUMP00000198845;bK437G10B.1 (meningioma (disrupted in balanced translocation) 1);meningioma (translocation balanced);meningioma chromosome region 1;probable tumor suppressor protein MN1 APPROVED protein-coding ENSG00000169184 7180 08862 156100;607174 REVIEWED 1604777 MND1 meiotic nuclear divisions 1 homolog (S. cerevisiae) The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008] 4 4 4 q31.3 151590328 151660770 + 154485251 154555693 + 154265801 154336247 + 6480464 17639080;16407260;12477932;11940665;20379614;16341674;21832049;21890473;22505724 84057 D6R9E3;D6RCT6;D6RIA0;Q9BWT6 AA542845;ABBA01070136;ABBA01070137;AC013477;AK312172;AMYH01014628;AY028916;BC032142;BF975093;BG613292;BG758047;BM820228;BM833450;BU533354;CH471056;NM_001253861;NM_032117;NR_045605 AAH32142;AAK26168;ABM82912;ABM86102;BAG35106;EAX04964;EAX04965;NP_001240790;NP_115493;Q9BWT6 Hs.294088 1769254 G33798 GAJ OTTHUMP00000220333;OTTHUMP00000220334;homolog of yeast MND1;meiotic nuclear division protein 1 homolog APPROVED protein-coding ENSG00000121211 24839 17025 611422 VALIDATED 1322933 MMRN2 multimerin 2 This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012] 10 10 10 q23.2 82698335 82720425 - 88685576 88707352 - 88695297 88717425 - 1580863;6480464 14702039;8889548;16335952;15489334;12477932;12221002;11559704;16420310;18327805;22020326;22334695;22532453;7933987 79812 Q9H8L6;R4GMY6 ABBA01033688;ABBA01033689;AC025268;AK023527;AK293822;AK304727;AK308401;AMYH01002902;AMYH01002903;BC064415;BC072456;BC094744;BM673127;CH471142;DC416005;NG_032913;NM_024756;W38498 AAH64415;AAH94744;BAB14599;BAG57226;BAG65490;EAW80319;NP_079032;Q9H8L6 Hs.524479 1341805;1651451;1766919;2160934;5115850 D10S1687;RH46907;SHGC-152407;STS-AA025351;ksks370 EMILIN-3;EMILIN3;EndoGlyx-1;FLJ13465 EMILIN-3;EMILIN-like protein EndoGlyx-1;OTTHUMP00000020015;elastin microfibril interface located protein 3;elastin microfibril interfacer 3;endoGlyx-1 p125/p140 subunit;multimerin-2 APPROVED protein-coding ENSG00000173269 19888 10601 608925 REVIEWED 1312286 MMS22L MMS22-like, DNA repair protein 6 6 6 q16.1 98233679 98375346 - 97696758 97837773 - 97590037 97731052 - 6480464 17353931;14702039;14574404;12477932;16169070;21055985;21055983;21055984;21113133;22939629;21139048;21906983;21252943;22053931 253714 E2QRD4;H0Y8J1;H0YAJ2;H9KVD7;H9KVD8;Q6ZRQ5 ABBA01014518;ABBA01014519;ABBA01014520;AK128060;AL023656;AL353679;AL590484;AMYH01016529;AMYH01016530;AMYH01016531;BC110860;BC142948;BX538214;CH471051;CR749603;CR749822;JA764221;NM_198468 AAI60006;BAC87254;CAH18398;CAH18682;CCF82070;EAW48494;EAW48495;EAW48496;NP_940870;Q6ZRQ5 Hs.444292 1676902;1697798;1712947;1719809;2159698;5014051;5015619;5021872;5022200;5022578;5023733;5037552 AU048745;D11S3114;D1S1423;D6S1289;D8S2278;D8S2279;L18426;RH102423;RH120563;RH123597;RH94367;sY3084 C6orf167;DKFZp686C20164;DKFZp781C2113;FLJ46180;KIAA1900;dJ39B17.2 MMS22-like, DNA repair protein;OTTHUMP00000016886;OTTHUMP00000221009;hypothetical protein LOC253714;methyl methanesulfonate-sensitivity protein 22-like;protein MMS22-like APPROVED protein-coding ENSG00000146263 21475 12865 PROVISIONAL 1343971 MNG1 multinodular goitre 1 7240710 9345104 4333 1338727;1342331 D14S1030;D14S1060 7184 138800;601200 1342804 MNGIE myoneurogastrointestinal encephalopathy syndrome 7240710 8164833 4334 7185 603041 1348437 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] 20 20 q11.2-q13.1 44070954 44078607 + 44637547 44645200 + 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4318 P14780 ABBA01052673;ABBA01052674;AF148064;AF538844;AK298246;AK301446;AK302530;AK303080;AK313137;AK316145;AL162458;AMYH01011940;AW468235;AX011001;BC006093;CH471077;CN288579;D10051;DQ194553;HQ874462;J05070;M68351;M68355;NG_011468;NM_004994 AAA51539;AAD37404;AAH06093;AAM97934;ABA03169;ABM87790;ABW03866;AEA49029;BAA20967;BAG35956;BAH12743;BAH13483;BAH13736;BAH13895;BAH14516;CAC07541;EAW75776;NP_004985;P14780 Hs.297413 1341311;1683575;1744529;1792522;1795100;5021304;5094717 D20S838;GDB:512297;Mmp9;PMC152639P2;PMC97903P1;RH11668;WI-7659 CLG4B;GELB;MANDP2;MMP-9 92 kDa gelatinase;92 kDa type IV collagenase;OTTHUMP00000031674;macrophage gelatinase;matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase);matrix metalloproteinase-9;type V collagenase APPROVED protein-coding ENSG00000100985 7176 00387 120361;613073 REVIEWED 1344566 MNX1 motor neuron and pancreas homeobox 1 This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 7 7 q36 156490308 156496108 - 156797547 156803347 - 1580863;6480464;6907045;7240710 7914194;9843207;19212340;18940475;18449898;17612791;16646086;16498628;15998911;15839736;15790807;15772702;11940082;11528505;10749657;10631160;10329000;7550324;1712647;1677181;21145461;20146075;19853743;19446746;21069786;23048027;21960426;21763840;23370340;22820079 3110 C9JFT4;C9K088;P50219 AACC02000068;ABBA01032368;ABBA01032369;AC006357;AF107457;AMYH01018190;AY927459;AY927460;AY927461;AY927462;AY927464;CH236954;CH471149;NG_013212;NM_001165255;NM_005515;U07663;U07664;X56537 AAB60647;AAI60126;CAA39882;EAX04564;NP_001158727;NP_005506;P50219 Hs.37035 1668692;2162731 D7S2795;RH17984 HB9;HLXB9;HOXHB9;SCRA1 OTTHUMP00000211645;OTTHUMP00000211673;homeo box hb9;homeobox HB9;homeobox protein HB9;motor neuron and pancreas homeobox protein 1 APPROVED protein-coding ENSG00000130675 4979 00874 142994;176450 REVIEWED 1354311 MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) 10 10 10 q24-q25 92956137 92996432 - 99208071 99248257 - 99218081 99258366 - 6480464 11279242;11071939;19318433;16797255;15489334;15164054;14702039;12477932;11328871;9110174;8619474;8125298;17353931;21145461;20797633;16385451;17148452;19615732;20522537;22863883;22939629;23022380;17314511;21139048;21890473;21906983;22678361;22678362;21252943;23150669;22797925;22952844 64210 B0QZ77;F8WCH8;H0Y746;H0Y7V3;H7C0A9;H7C1W5;Q5T454;Q9BUE2 ABBA01021802;ABBA01021803;AF007151;AF319947;AF357881;AJ306408;AK025496;AK027710;AK056244;AK056581;AK225312;AK298995;AK304287;AK314374;AL355490;AL359388;AMYH01002977;AY974244;BC002692;BC006575;BC007298;BC009396;BC033101;BC080532;BC117129;BC143285;BU942293;CH471066;DC382324;DC382327;DC403135;DC410036;NM_022362 AAC19154;AAH02692;AAH06575;AAH09396;AAH80532;AAI17130;AAK52668;AAK70402;AAX59033;BAB55315;BAB71223;BAG51657;BAG61084;BAG65145;CAC29239;EAW49921;EAW49922;EAW49923;EAW49924;EAW49925;EAW49926;EAW49927;EAW49928;NP_071757;Q96T76 Hs.500721 1653508;2128971;2155370;2173212;2191611 A002G19;Cda19h12;D10S2361;MARC_27504-27505:1034367166:1;WI-20291 FLJ34167;FLJ95146;MET18;MGC99604;MMS19L;hMMS19 MET18 homolog;MMS19 (MET18 S. cerevisiae)-like;MMS19 nucleotide excision repair protein homolog;MMS19-like (MET18 homolog, S. cerevisiae);MMS19-like protein;OTTHUMP00000020210;OTTHUMP00000020211;OTTHUMP00000020213;homolog of yeast MMS19 protein-coding ENSG00000155229 13824 17579 614777 VALIDATED 733503 MNAT1 MNAT CDK-activating kinase assembly factor 1 The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 q23 60271223 60505151 + 61201459 61435398 + 1580863;6480464;6907045 17353931;11113200;16169070;11445587;8521818;9405375;10583946;8692841;8692842;8946909;18029348;1939271;2449431;7629134;7799941;9512541;9582279;9790902;10214908;11313499;12393749;12646563;16782892;17707548;17628022;16935935;15489334;15328539;15282296;15220921;14569024;12527756;12477932;12379213;12213824;12140753;11113176;11056214;11056162;10949034;10866664;10438593;10428966;10082552;10066804;10024882;9840937;9765201;9651670;9570510;9465303;9372954;9368058;9334327;9311822;9184228;9130708;9121429;9118947;9054383;8934526;8849451;8628270;8521393;8308015;10801852;17643375;19584075;20379614;20522537;9852112;17207965;16327805;23105109;17371848;22939629;15530371;18816836;21890473;21988832;23000965;23455922;22266860;22610502;16954377;22493164 4331 H0YJ92;H0YJF2;P51948 AA053721;ABBA01018290;ABBA01018291;ABBA01018292;AK308701;AL132777;AL160236;AMYH01005770;AMYH01005771;AY165512;BC000820;BU620200;CD701743;CH471061;CR450336;NM_001177963;NM_002431;U61835;X87843;X92669 AAB05248;AAH00820;AAN47195;ADQ32279;CAA61112;CAA63356;CAG29332;EAW80787;EAW80788;EAW80789;EAW80790;EAW80791;NP_001171434;NP_002422;P51948 Hs.509523 1336875;1336899;1658794;1685794;1744283;1788336;1788338;1788340;2125514;2137963;2155108;2155110;2158270;2179826;2219936;7186579 D14S1166;D14S592;D7S2425;G67480;G67481;G67482;GDB:451562;MNAT1__6327;RH45647;RH47826;RH65471;RH69606;RH70690;RH70941;RH80245 CAP35;MAT1;RNF66;TFB3 CDK-activating kinase assembly factor MAT1;CDK7/cyclin-H assembly factor;OTTHUMP00000179046;OTTHUMP00000245730;RING finger protein 66;RING finger protein MAT1;cyclin G1 interacting protein;cyclin-G1-interacting protein;menage a trois 1 (CAK assembly factor);menage a trois homolog 1, cyclin H assembly factor APPROVED protein-coding ENSG00000020426 7181 04042 602659 REVIEWED 1314505 MNDA myeloid cell nuclear differentiation antigen The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008] 1 1 q22 157067792 157085894 + 158801168 158819270 + 1580863;6480464 12112016;1644857;16651415;16458891;15778972;15489334;12477932;9712147;8175894;7806273;7512843;7327575;1377701;14618084;19474799;17875758;18029348;20595294;20193116;23251661 4332 H0Y6P3;P41218;Q5VUU6 ABBA01016623;ABBA01016624;AK290392;AK313210;AL513205;AMYH01001443;BC020715;BC032319;CH471121;M81750;NM_002432;U30245 AAA69696;AAH20715;AAH32319;BAF83081;BAG36026;EAW52807;EAW52808;NP_002423;P41218 Hs.153837 1761387;2149921;2184790 D1S2388;RH17742;SHGC-145403 PYHIN3 OTTHUMP00000024384;myeloid cell nuclear differentiation antigen APPROVED protein-coding ENSG00000163563 7183 15932 159553 REVIEWED 6481515 MOB1AP1 MOB kinase activator 1A pseudogene 1 13 86543052 86543666 + 100873874 ABBA01012310;AL603869;AMYH01005262;NG_032520 MOBKL1BP1 pseudo 42638 INFERRED 6481498 MOB1AP2 MOB kinase activator 1A pseudogene 2 X 37150457 37150809 + 100873854 AC243975;AMYH01022210;CR376822;NG_032521 MOBKL1BP2 pseudo 42639 INFERRED 7248373 MNX1-AS1 MNX1 antisense RNA 1 (head to head) 12477932 645249 AACC02000068;ABBA01032368;AC006357;AI337260;AMYH01018190;BC022831;BC033117;BU506764;CH236954;CH471149;NR_038835 AAH22831;AAH33117;EAX04566 Hs.224879 miscrna ENSG00000243479 48954 VALIDATED 1605067 MNS1 meiosis-specific nuclear structural 1 This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008] 15 15 15 q21.3 33609956 33646382 - 54508299 54544627 - 56720929 56757335 - 6480464 16189514;15942958;14702039;12477932;8032679;7625268 55329 B3KQ70;Q8NEH6 ABBA01039006;AC068713;AC084782;AK002084;AK057542;AMYH01006676;BC012554;BC031046;BC034991;CH471082;NM_018365 AAH31046;AAH34991;ABW03602;ABW03743;BAA92077;BAG51932;EAW77501;EAW77502;NP_060835;Q8NEH6 Hs.444483 1706978 SHGC-80988 FLJ11222;FLJ26051;SPATA40 OTTHUMP00000162907;meiosis-specific nuclear structural protein 1;spermatogenesis associated 40 APPROVED protein-coding ENSG00000138587 29636 10967 610766 REVIEWED 1318597 MNT MNT, MAX dimerization protein The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008] 17 17 p13.3 2234104 2251008 - 2287354 2304258 - 1580863;6480464 9598315;9184233;19086036;18155722;17577784;16341674;15489334;15258910;15146197;12477932;11748221;11314024;11230181;10918583;9199935;17419941;18457265;18271930;22964333;20946988;18239623;19322201 4335 K7ES66;Q99583 ABBA01054702;ABBA01054703;AC006435;AF318360;AK291596;AMYH01008012;BC033186;BC117563;BM469815;BM820333;BM876168;BM876428;BQ675978;CA950091;CH471108;CN428911;CN428913;HC084232;NM_020310;X96401;Y13440;Y13444 AAI17564;AAL55867;BAF84285;CAA65265;CAA73851;CBI12212;EAW90541;EAW90542;EAW90543;NP_064706;Q99583 Hs.626579;Hs.632239 1729564;1746073;1767518;5015619;5015961;5020948;5022578;5022651;5024413;5037552;5109281;5112201;7184787 D11S2921;D11S3114;D15S1477;D17S379;D1S1423;D1S1425;D8S2279;G35510;G54861;L17877;RH102316;WI-21883 MAD6;MXD6;ROX;bHLHd3 MAX binding protein;Max-interacting protein;OTTHUMP00000115723;class D basic helix-loop-helix protein 3;max-binding protein MNT;myc antagonist MNT APPROVED protein-coding ENSG00000070444 7188 04331 603039 REVIEWED 1315803 MNF1 mitochondrial nucleoid factor 1 This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012] 6 6 6 p21.31 35219736 35233893 - 33773324 33787482 - 33664538 33679528 - 6480464 15489334;14574404;12477932;15146197;16344560;8889548;19851445;19643811;20877624;22277967;22363741;18029348 84300 Q5TAQ0;Q9BRT2 ABBA01038161;AF086234;AI688269;AK127468;AK311835;AL139044;AMYH01016249;AY568085;BC006007;BI604191;CB241659;CH471081;CN261727;DA123098;NM_032340 AAH06007;AAS68365;BAG34777;EAX03745;NP_115716;Q9BRT2 Hs.93235 1657720;1659084;1694550;1735606;2115794;2131179;2156826;2178654;2180651;5113282;5491207 AI790199;D6S1191E;D6S2048;G43195;RH36260;RH46603;RH46652;RH93741;STS-H94315;STS-U01062;WI-22215 C6orf125;Cbp6;M19;MGC14833;bA6B20.2 OTTHUMP00000016216;OTTHUMP00000016217;breast cancer associated protein SGA-81M;breast cancer-associated protein SGA-81M;cytochrome B protein synthesis 6 homolog;hypothetical protein LOC84300;mitochondrial nucleoid factor 1;mitochondrial protein M19;uncharacterized protein C6orf125 APPROVED protein-coding 21237 12847 614461 REVIEWED 1312955 MOB1B MOB kinase activator 1B The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 4 4 4 q13.3 69125042 69210916 + 71986928 72072755 + 71768057 71853891 + 737633;1580863;6480464 12477932 19919647;15197186;15067004;15489334;14702039;8889548;19739119;20970119;21832049;22454515;18781797;20360068;21139048;21890473;16674920;22505724 92597 B3KSH6;D6RCK3;Q7L9L4 AA417950;ABBA01022949;ABBA01022950;ABBA01022951;ABBA01022952;ABBA01022953;ABBA01022954;ABBA01022955;AC021989;AC093851;AC108014;AJ577473;AK093545;AK299481;AK313513;AL162039;AMYH01014283;BC038112;BC044913;BF129919;BG033976;BG433921;BQ229138;BX089615;CA311370;CH471057;NM_001244766;NM_001244767;NM_173468 AAH38112;AAY40943;AAY41047;BAG36293;BAG52738;BAG61445;CAE12091;EAX05635;EAX05636;NP_001231695;NP_001231696;NP_775739;Q7L9L4 Hs.691454;Hs.744715 1644645;1734278;2171139;2176446 D4S2468E;RH65892;SHGC-59227;SHGC-67949 MATS2;MGC33910;MOB4A;MOBKL1A MOB kinase activator 1B;MOB1 Mps One Binder homolog B;MOB1, Mps One Binder kinase activator-like 1A;OTTHUMP00000219144;OTTHUMP00000219145;mob1 homolog 1A;mob1A;mps one binder kinase activator-like 1A APPROVED protein-coding ENSG00000173542 29801 17582 609282 REVIEWED 1317819 MOB3A MOB kinase activator 3A 19 19 19 p13.3 2005787 2031022 - 2022035 2047269 - 2071035 2096269 - 737633;1580863;6480464 12477932 11256614;16381901;15489336;15489334;15057824;14702039;11230166;11076863;21832049;19322201;19739119;19953087 126308 K7EKK6;K7ELH3;K7ELS3;K7EPX7;K7ESA9;K7ESI3;Q96BX8 AB061793;ABBA01002707;ABBA01002708;ABBA01002709;ABBA01002710;AC005328;AJ580635;AK094732;AK095471;AL832474;AMYH01009274;BC009547;BC015049;CR627409;NM_130807 AAC27672;AAH15049;BAB84554;BAG53063;CAE45267;CAH10498;CAL37922;NP_570719;Q96BX8 Hs.86912 1683653;1684854;2157605;5014051;5022200;5037552 D8S2278;D8S2279;L18426;RH91581;RH91888;STS-W67745 MOB1C;MOBKL2A;moblak MOB LAK;MOB kinase activator 3A;MOB-LAK;MOB1, Mps One Binder kinase activator-like 2A;mob1 homolog 2A;mps one binder kinase activator-like 2A APPROVED protein-coding ENSG00000172081 29802 17583 VALIDATED 1316298 MOAP1 modulator of apoptosis 1 The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008] 14 14 14 q32 73702548 73705256 - 92718294 92721002 - 93648541 93651249 - 1580863;6480464 11076863;11060313;11256614;19100260;18474619;17535899;16713569;16381901;16344548;16189514;15949439;15489336;15489334;14702039;12477932;22529100;22434376;23236846;19797269;19850743;21078624;21139048;21890473;21906983;23472165 64112 Q96BY2 ABBA01030436;AF305550;AK024029;AK315522;AL110118;AMYH01005965;BC015044;BG475323;BG699993;BG704865;CH471061;NM_022151 AAG31786;AAH15044;ABM82103;ABM85285;BAB14788;BAG37903;CAL37854;EAW81516;NP_071434;Q96BY2 Hs.24719 2167776;2185495;5016851;5022651 D11S2921;RH11254;RH80031;WI-21766 MAP-1;PNMA4 MAP1;OTTHUMP00000240354;modulator of apoptosis 1;paraneoplastic Ma antigen family member 4;paraneoplastic antigen Ma4;paraneoplastic antigen like 4 APPROVED protein-coding ENSG00000165943 16658 17580 609485 REVIEWED 1315956 MOB1A MOB kinase activator 1A 2 2 2 p13.1 74214438 74237202 - 74236719 74259503 - 74383211 74405995 - 6480464 15197186;17353931;17611689;16189514;15815621;15766530;15489334;14702039;12962634;12665801;12477932;11319234;16061636;18362890;17207965;17347649;17643375;19739119;19955215;21832049;22454515;17620599;23022380;20624913;20360068;16674920;22505724 55233 H7BZ12;Q9H8S9 AB016839;ABBA01075598;AC073263;AJ577474;AK001650;AK021657;AK023321;AMYH01010454;BC003398;CH471053;CQ826793;NM_018221 AAH03398;AAX93060;ADQ33200;BAA91810;BAB13868;BAB14525;BAB19058;CAE12093;CAG44585;EAW99695;EAW99696;NP_060691;Q9H8S9 Hs.602092 1663608;1679527;1682591;1695196;2156313 G48239;RH66469;RH69565;RH80124;RH93806 C2orf6;FLJ10788;FLJ11595;MATS1;MOB1;MOBK1B;MOBKL1B;Mob4B MOB kinase activator 1A;MOB1 Mps One Binder homolog A;MOB1, Mps One Binder kinase activator-like 1B;OTTHUMP00000202550;mob1 alpha;mob1 homolog 1B;mps one binder kinase activator-like 1B APPROVED protein-coding 16015 14727 609281 PROVISIONAL 1346999 MOB3B MOB kinase activator 3B The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008] 9 9 9 p21.2 27253352 27457971 - 27315207 27519850 - 27325207 27529850 - 737633;6480464 12477932 17353931;19240061;18519826;16344560;16189514;15489334;14702039;8889548;18615156;19060904;20237496;20379614;20423481;15146197;20936779;16712791;19322201;19739119;21900206;23376709 79817 Q86TA1;Q8TEC6 AA149400;ABBA01065127;ABBA01065128;ABBA01065129;ABBA01065130;AI692878;AJ580636;AK022201;AK023266;AK074231;AK097199;AK172755;AL163192;AL451123;AL832572;AMYH01019295;AMYH01019296;AMYH01019297;AU126938;BC033027;BF511468;BI860336;CB128567;CH471071;CN260547;CR457307;DB266074;NM_024761 AAH33027;ABM82128;ABM85311;BAB14497;BAB85024;BAD18741;CAD89934;CAE45268;CAG33588;EAW58562;NP_079037;Q86TA1 Hs.369022;Hs.690014;Hs.733701 1647511;1650626;1658285;1704078;1708486;1709320;1720983;1753755;1764647;1775740;2122868;2124791;5494163 A004T44;A006Z29;D9S1086;G59472;SHGC-14117;SHGC-148236;SHGC-79483;SHGC-81650;SHGC-83348;SHGC-89217;STS-R14866;WI-15386;fb73a01.x1 C9orf35;FLJ13204;FLJ23916;MGC32960;MOB1D;MOBKL2B MOB kinase activator 3B;MOB1, Mps One Binder kinase activator-like 2B;OTTHUMP00000021173;mob1 homolog 2b;monopolar spindle 1 binding, MOB1, domain containing;mps one binder kinase activator-like 2B APPROVED protein-coding ENSG00000120162 23825 14728 REVIEWED 1346599 MOCS1P1 molybdenum cofactor synthesis 1 pseudogene 1 16 16 q12.1 33040872 33043513 + 48530693 48533334 + 27187 ABBA01000911;AC026470;AJ272089;AMYH01007649;NG_001271 MOCS1P2 pseudo 7191 INFERRED 1348601 MOCS1P2 molybdenum cofactor synthesis 1 pseudogene 2 27186 7192 1602095 MOB2 MOB kinase activator 2 11 11 11 p15.5 1522493 1539736 - 1447269 1458691 - 1490685 1507948 - 6480464 15489334;15067004;14702039;12477932;11223154;11181995;20624913;20379614;20889853;16751776;18029348;16061636;20360068 81532 Q70IA6 AB028173;AB066564;ABBA01012144;ABBA01012145;AC091196;AJ580639;AK057350;AK296658;AK300235;AMYH01003308;AW874617;BC035317;BC047291;BC058934;BC067785;BX537373;CH471158;DC413532;NM_001172223;NM_053005 AAH47291;AAH67785;BAB18568;BAB62266;BAB71443;BAG59255;BAG62003;CAD97615;CAE45271;NP_001165694;NP_443731;Q70IA6 Hs.370360 1655557;1782356;2158021 G09998;RH69788;SHGC-148820 HCCA2 HCCA2 protein;MOB kinase activator 2;MOB2 Mps One Binder homolog;OTTHUMP00000230139;mob2 homolog APPROVED protein-coding 24904 17581 611969 VALIDATED 1317238 MOB3C MOB kinase activator 3C The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 1 1 1 p33 45360739 45369899 - 46845974 46855150 - 47073387 47082563 - 6480464 15489334;14702039;12477932;8889548;21832049;19739119 148932 Q70IA8 ABBA01050836;AJ580637;AK090453;AK091808;AL136373;AMYH01000588;BC026078;BC121169;BG717827;BI601393;CF125162;CH471059;NG_027514;NM_145279;NM_201403 AAI21170;BAC03434;BAC03752;CAE45269;EAX06898;EAX06899;NP_660322;NP_958805;Q70IA8 Hs.632401 1679954 RH81054 MGC26743;MOB1E;MOBKL2C MOB kinase activator 3C;MOB1, Mps One Binder kinase activator-like 2C;OTTHUMP00000009682;OTTHUMP00000009683;mob1 homolog 2C;mps one binder kinase activator-like 2C APPROVED protein-coding ENSG00000142961 29800 17584 REVIEWED 1350729 MOCS3P1 molybdenum cofactor synthesis 3 pseudogene 1 14 14 14 q23.1 42381393 42383226 + 61400583 61402420 + 62330934 62332767 + 326305 ABBA01018304;AL137918;AMYH01005778;NG_002557 2219938 MOCS3__6331 MOCS3P APPROVED pseudo 20021 INFERRED 4891559 MOCS3P2 molybdenum cofactor synthesis 3 pseudogene 2 13 13 24809820 24810328 - 43753636 43754144 - 100420520 ABBA01021247;AL138709;AMYH01005077;NG_024852 pseudo 39444 INFERRED 1318297 MOCOS molybdenum cofactor sulfurase MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH; MIM 607633) and aldehyde oxidase (AOX1; MIM 602841), which is required for their enzymatic activities (Ichida et al., 2001 [PubMed 11302742]).[supplied by OMIM, Feb 2010] 18 18 18 q12 30575346 30656592 + 32021478 32102683 + 33767480 33848685 + 6480464 8125298;11302742;19500084;17368066;16964243;15489334;15302935;14624414;12477932;21906983;22495427 55034 Q96EN8 ABBA01022431;ABBA01022432;AC023043;AK000740;AK222886;AL834481;AMYH01008939;BC012079;BQ931455;CH471088;CS300660;GN364804;NM_017947 AAH12079;ABM86767;ABW03823;BAA91353;BAD96606;CAD39140;CAK32324;CAY77139;EAX01378;NP_060417;Q96EN8 Hs.405028 2135471 D18S958 FLJ20733;HMCS;MCS;MOS OTTHUMP00000163413;moCo sulfurase;molybdenum cofactor sulfurase APPROVED protein-coding 18234 17585 613274 VALIDATED 1323209 MOGAT1 monoacylglycerol O-acyltransferase 1 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008] 2 2 2 q36.1 217304367 217342566 + 223244701 223282893 + 223536457 223574649 + 6480464 15815621;14970677;12077311;11481335 116255 Q96PD6 ABBA01023812;AC104772;AF384163;AMYH01011517;BN000154;CH471063;NM_058165 AAI40228;AAI46519;AAK84178;AAX81987;CAD89265;EAW70805;EAW70806;NP_477513;Q96PD6 Hs.344090 DGAT2L;DGAT2L1;MGAT1 2-acylglycerol O-acyltransferase 1;OTTHUMP00000203814;acyl-CoA:monoacylglycerol acyltransferase 1;diacylglycerol O-acyltransferase 2 like 1;diacylglycerol O-acyltransferase candidate 2;diacylglycerol acyltransferase 2-like protein 1;hDC2 APPROVED protein-coding ENSG00000124003 18210 14729 610268 VALIDATED 736574 MOBP myelin-associated oligodendrocyte basic protein 3 3 3 p22.1 39450698 39509485 + 39484074 39542863 + 39509070 39567859 + 633191;6480464 7989345 17964117;16344560;15489334;15009677;14702039;12477932;9749786;21685912;18839057;19734545;18029348;20877624;17207965;21832049;23535033 4336 C9JAR7;C9JLT8;G5E945;Q13875 ABBA01024801;AC092058;AK094745;AK095118;AK095180;AK124766;AK127034;AK290187;AMYH01013099;BC022471;BC035141;BC075796;BC119694;BC119695;CH471055;D28113;D28114;DA159663;DA287397;DA343382;DA418624;EB387411;NM_001278322;NM_001278323;NM_182935;NR_003090;NR_103504;NR_103505;NR_103506 AAH22471;AAH75796;AAI19695;AAI19696;ADQ32378;BAA05659;BAA05660;BAF82876;EAW64588;EAW64589;EAW64590;EAW64591;EAW64592;EAW64593;EAW64594;NP_001265251;NP_001265252;NP_891980;Q13875 Hs.121333;Hs.594670 1667573;1682367;1694448;1739821;1846720;1856160;2112556;2112580;2112620;2151398;2165658;2184503;5024565 D3S3390;D3S3484E;D3S4336;D3S4349;D3S4372;G09421;G16598;G18010;G42937;RH80753;RH92643;SHGC-76849;WI-13470 MGC87379 OTTHUMP00000174757;OTTHUMP00000209608;OTTHUMP00000209638;OTTHUMP00000209639;myelin-associated oligodendrocyte basic protein;myelin-associated oligodendrocytic basic protein protein-coding ENSG00000168314 7189 02973 600948 VALIDATED 1318258 MOCS1 molybdenum cofactor synthesis 1 Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants, whose full-length natures have yet to be determined, are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Jan 2010] 6 6 p21.3 39981072 40010196 - 39872034 39902290 - 1625104;1558665;1624402;1600439;6480464;6907045;7240710 16784786;12754701;9921896;9731530 16021469;17065069;15489334;15180982;15146197;14702039;14574404;12477932;12208140;11891227;10917590;10327149;10053004;9812897;9634514;8889548;16429380;19544009;19793632;21988832 4337 F8WCK1;Q5TCE2 ABBA01050772;ABBA01050773;AF034374;AF214015;AF214022;AF214023;AI122656;AJ224328;AJ293577;AJ404969;AK056740;AK091306;AK300300;AL136089;AMYH01016289;AV724791;AY423726;BC036839;CA944911;CH471081;CN267723;CX787499;DC377054;DC410181;NG_009297;NM_001075098;NM_005943;NR_033233 AAB87523;AAB87524;AAF67843;AAF67844;AAF67857;AAF67858;AAH36839;AAI40422;AAS00489;BAG51799;BAG62053;CAA11897;CAA11898;CAC44526;CAC44527;CAI20007;CAI20008;CAI20009;CAI20011;CAI20012;CAI20013;CAI20014;CAI20015;EAX03998;EAX03999;EAX04000;EAX04001;EAX04002;NP_001068566;NP_005934;Q9NZB8 Hs.357128;Hs.718492 1847151;2125408;2217246 DAAM2_3802;RH15815;RH78586 KIAA0381;MIG11;MOCOD;MOCS1A;MOCS1B MOCS1A enzyme;OTTHUMP00000016353;OTTHUMP00000016354;OTTHUMP00000016356;OTTHUMP00000016357;OTTHUMP00000016358;OTTHUMP00000016360;OTTHUMP00000216744;cell migration-inducing gene 11 protein;migration-inducing gene 11 protein;molybdenum cofactor biosynthesis protein 1;molybdenum cofactor biosynthesis protein A;molybdenum cofactor synthesis-step 1 protein A-B APPROVED protein-coding ENSG00000124615 7190 04749 252150;603707 REVIEWED 1601878 MOB4 MOB family member 4, phocein This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011] 2 2 2 q33.1 192136193 192173386 + 198088565 198125760 + 198380295 198418423 + 6480464 17853115;17353931;18362890;16189514;16169070;15489334;14702039;12477932;11872741;11319234;11230166;11217851;10810093;18782753;20029029;20936779;11251078;19615732;22863883;22990118;19156129;21139048;20360068;19739119;19797269 25843 B4DM50;F8W8B0;F8WAQ8;Q9Y3A3 AB015441;ABBA01062482;AC020550;AF093825;AF151853;AF250319;AJ580638;AK027043;AK289377;AK292938;AK297514;AK307497;AL080070;AMYH01011388;BC005237;CH471063;CR457371;CR736874;DC298610;DC350915;DC375649;NM_001100819;NM_001204094;NM_015387;NM_199482 AAD34090;AAG44567;AAH05237;AAP97221;AAX93147;BAB15635;BAB19057;BAF82066;BAF85627;BAG59922;CAB45697;CAE45270;CAG33652;EAW70164;EAW70165;EAW70166;EAW70167;EAW70168;NP_001094289;NP_001191023;NP_056202;NP_955776;Q9Y3A3 Hs.633165 1682682;1685976;1734894;1853887;2125083;5015961;5022322;5024756;5037552 D11S2560;D15S1477;D2S1666E;D8S2279;RH27240;RH80017;RH80030;STS-AA015752;WI-14124 2C4D;CGI-95;MGC12264;MOB1;MOB3;MOBKL3;PHOCN;PREI3 MOB1, Mps One Binder kinase activator-like 3;OTTHUMP00000163628;OTTHUMP00000163629;OTTHUMP00000205811;OTTHUMP00000205812;class II mMOB1;mob1 homolog 3;phocein;phocein, Mob-like protein;preimplantation protein 3 APPROVED protein-coding ENSG00000115540 17261 10165 609361 REVIEWED 736817 MOG myelin oligodendrocyte glycoprotein The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 p22.1 29732788 29748128 + 29624758 29640149 + 1580863;6480464 8812306;20471030;1373175;8530032;19167444;19165527;19034380;18753473;18001301;17971048;17928868;17897745;17573820;17554625;17509152;17402967;17142321;16903876;16900754;16344560;15660663;15146195;14688379;14574404;12817031;12482392;12477932;12149493;12115610;12077287;11895369;11739534;11118029;9210466;8915905;8666381;8367453;7964757;7790876;20685767;19615732;19687098;19851445;19907433;20379614;20452030;20800907;19913121;20593013;20628086;21083890;21177754;22204662;20549678;21653833;21795651;21880773;21907016;22093619;22412388;23284291;23032943 4340 B7Z2X8;C9JTE0;E9PG44;H0Y8A0;H7BYC0;Q5SSB8;Q5STM1;Q5SUK5;Q8IYG5;Q93053 AB209815;ABBA01038033;ABBA01038034;AI205181;AK295213;AK308949;AK312892;AL050328;AL119259;AL645936;AL662826;AL669813;AL929591;AMYH01016196;AY566846;AY566847;AY566848;AY566851;AY566852;AY566853;AY566854;BC035938;BG699861;BI545470;BX107434;BX120002;BX927250;CH471081;CR388408;CR759766;CR936483;DA139582;DA140757;DA252279;DA253273;NG_031873;NM_001008228;NM_001008229;NM_001170418;NM_002433;NM_206809;NM_206810;NM_206811;NM_206812;NM_206814;U18798;U18799;U18800;U18801;U18803;U18840;U18843;U64564;U64565;U64566;U64567;U64568;U64569;U64570;U64571;X74511;Z48051 AAB08088;AAB08089;AAB08090;AAB08091;AAB08092;AAB08093;AAB08094;AAB08095;AAB36870;AAC50361;AAC50362;AAC50876;AAC50877;AAC50878;AAC50879;AAH35938;AAU09337;AAU09338;AAU09339;AAU09342;AAU09343;AAU09344;AAU10102;ABM83300;ABM86511;ABM86512;ABW03311;BAD93052;BAG35739;BAH12014;CAA52617;CAA88109;CAB89267;CAB89268;CAB89269;CAB89270;CAB89271;CAB89273;CAB89274;EAX03213;EAX03214;EAX03215;EAX03216;EAX03217;EAX03218;EAX03219;EAX03220;NP_001008229;NP_001008230;NP_001163889;NP_002424;NP_996532;NP_996533;NP_996534;NP_996535;NP_996537;Q16653 Hs.141308 1673844;1743295;2189645;2189647;2220064;2220066;5015961 D15S1477;D6S2831;D6S2870;GDB:314693;MOGa;MOGd;SGC35627 MGC26137;MOGIG-2;MOGIG2;NRCLP7 MOG Ig-AluB;MOG alpha-5;OTTHUMP00000029120;OTTHUMP00000029121;OTTHUMP00000029122;OTTHUMP00000029123;OTTHUMP00000029124;OTTHUMP00000029125;OTTHUMP00000029126;OTTHUMP00000029127;OTTHUMP00000109158;OTTHUMP00000214816;OTTHUMP00000214817;OTTHUMP00000214867;OTTHUMP00000214868;OTTHUMP00000214869;myelin-oligodendrocyte glycoprotein APPROVED protein-coding ENSG00000204655 7197 11831 159465;614250 REVIEWED 1347583 MOCS2 molybdenum cofactor synthesis 2 Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008] 5 5 q11 52429649 52441355 - 52393892 52405598 - 1625104;1556492;1558665;1580863;6480464;6907045;7240710 16784786;10053004;12754701 10917590;12732628;15073332;9889283;17158010;16964243;16737835;16021469;15489334;12477932;11746050;10053003;9812897;9731530;1427786;18491921;16169070;18650437;18029348;23000965;21139048;21890473;14702039;16344560 4338 E9PKT9;O96007;O96033 AA252410;ABBA01015718;AC008966;AF091871;AF117815;AF155659;AK095832;AK126211;AK312887;AMYH01015079;BC029287;BC039720;BC046097;BC095417;CB050849;CD514049;CH471123;CR457172;DA967651;HB937954;HC995363;NG_008435;NM_004531;NM_176806 AAD13296;AAD13297;AAD14598;AAD14599;AAF67478;AAH46097;BAG35735;CAG33453;CBG03804;CBV17326;EAW54874;EAW54875;EAW54876;EAW54877;NP_004522;NP_789776;O96007;O96033 Hs.163645;Hs.594335 1661345;1714203;1725691;2123443 D5S2664;G62050;RH119712;RH15640 MCBPE;MOCO1;MOCO1-A;MOCO1-B;MOCS2A;MOCS2B;MPTS MOCO1-A;MOCO1-B;MPT synthase large subunit;OTTHUMP00000122459;OTTHUMP00000221521;OTTHUMP00000221522;OTTHUMP00000221953;OTTHUMP00000221954;OTTHUMP00000231610;molybdenum cofactor biosynthesis protein E;molybdenum cofactor synthesis protein 2 large subunit;molybdenum cofactor synthesis protein 2 small subunit;molybdenum cofactor synthesis protein 2A;molybdenum cofactor synthesis protein 2B;molybdopterin synthase catalytic subunit;molybdopterin synthase catalytic subunit; molybdopterin synthase sulfur carrier subunit;molybdopterin synthase small and large subunit;molybdopterin synthase sulfur carrier subunit;molybdopterin-synthase large subunit;molybdopterin-synthase small subunit;sulfur carrier protein MOCS2A APPROVED protein-coding ENSG00000164172 7193 04750 252150;603708 REVIEWED 1316006 MOCS3 molybdenum cofactor synthesis 3 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012] 20 20 20 q13.13 46279623 46282080 + 49008770 49011227 + 49575363 49577820 + 1625104;1580863;6480464 16784786 19017811;18650437;15073332;17459099;15910006;18491921;15489334;15231747;12754701;12477932;11780052;11746050;22453920;21139048;21890473;21906983;22797925;8889548 27304 O95396 ABBA01052792;AF102544;AI942426;AL034553;AMYH01011978;BC015939;BG105185;BQ188547;BY995583;CH471077;DB452633;HY215239;NG_008923;NM_014484 AAC72412;AAH15939;ABM83281;ABM86472;EAW75606;NP_055299;O95396 Hs.159410;Hs.736268 1700674;2219938;5014023;5015861;5015961;7185938 D10S16;D13S1553;D15S1477;MOCS3__6331;RH103960 MGC9252;UBA4;dJ914P20.3 MPT synthase sulfurylase;OTTHUMP00000031284;UBA4, ubiquitin-activating enzyme E1 homolog;adenylyltransferase and sulfurtransferase MOCS3;molybdenum cofactor synthesis protein 3;molybdopterin synthase sulfurylase;ubiquitin-like modifier activating enzyme 4 APPROVED protein-coding ENSG00000124217 15765 10092 609277 REVIEWED 1316028 MOGAT2 monoacylglycerol O-acyltransferase 2 Dietary fat absorption from the small intestine is facilitated by acyl-CoA:monoacylglycerol transferase (MOGAT; EC 2.3.1.22) and acyl-CoA:diacylglycerol acyltransferase (DGAT; see MIM 604900) activities. MOGAT catalyzes the joining of monoacylglycerol and fatty acyl-CoAs to form diacylglycerol (Yen and Farese, 2003 [PubMed 12621063]).[supplied by OMIM, Mar 2008] 11 11 11 q13.5 72736737 72750141 + 75106582 75119979 + 75428934 75442331 + 6480464 15489334;14970677;14966132;14702039;12824082;12621063;12576479;12477932;22318606 80168 Q3SYC2 ABBA01017462;AK000245;AK026297;AK128620;AK291998;AMYH01003818;AP001922;AY157608;BC103876;BC103877;BC103878;CH471076;HB886763;HB911613;HC944172;HC969022;NM_025098 AAI03877;AAI03878;AAI03879;AAO23672;BAB15436;BAC87534;BAF84687;CBF67540;CBF90899;CBU92413;CBV04419;EAW74982;EAW74983;NP_079374;Q3SYC2 Hs.288568 1655987;2165101;2165103 FB16B8;RH47251;SHGC-32865 DGAT2L5;FLJ22644;MGAT2;MGC119183;MGC119184;MGC119185 2-acylglycerol O-acyltransferase 2;OTTHUMP00000229407;OTTHUMP00000229408;OTTHUMP00000229409;acyl CoA:monoacylglycerol acyltransferase 2;acyl-CoA:monoacylglycerol acyltransferase 2;diacylglycerol O-acyltransferase candidate 5;diacylglycerol acyltransferase 2-like protein 5;hDC5;hMGAT2 APPROVED protein-coding 23248 11367 610270 PROVISIONAL 1350436 MOGAT3 monoacylglycerol O-acyltransferase 3 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008] 7 7 7 q22.1 95848167 95853457 - 100625730 100631022 - 100839010 100844302 - 6480464 15489334;14970677;12975309;12853948;12618427;12477932;9847074;21832049 346606 Q86VF5 ABBA01011343;ABBA01011344;AC004876;AMYH01017751;AY229854;AY358200;BC100953;BC100954;BC100955;CH471197;HB886765;HB911615;HC944174;HC969024;NM_178176 AAD45832;AAI00954;AAI00955;AAI00956;AAO63579;AAQ88567;CBF67541;CBF90900;CBU92414;CBV04420;EAW50203;EAW50204;NP_835470;Q86VF5 Hs.512217 5016781 SHGC-67307 DC7;DGAT2L7;MGAT3;MGC119203;MGC119204 2-acylglycerol O-acyltransferase 3;OTTHUMP00000024946;OTTHUMP00000211465;OTTHUMP00000211466;acyl coenzyme A:monoacylglycerol acyltransferase 3;acyl-CoA:monoacylglycerol acyltransferase 3;diacylglycerol O-acyltransferase candidate 7;diacylglycerol acyltransferase 2-like protein 7;hDC7 APPROVED protein-coding 23249 11368 610184 PROVISIONAL 5144663 MORC1-AS1 MORC1 antisense RNA 1 3 3 107218062 107226925 + 108820303 108829187 + 100506506 XR_108460;XR_112524 1658597;1715999 AFM211XF4;RH122742 APPROVED miscrna 40377 1601843 MON1A MON1 homolog A (yeast) 3 3 3 p21.31 49912397 49933686 - 49921310 49942261 - 49946302 49967445 - 6480464 22665492;16713569;14702039;12477932;21900206;21906983 84315 Q86VX9 ABBA01024566;ABBA01024567;ABBA01024568;AC105935;AK074404;AK092018;AK307140;AK315630;AMYH01013164;BC006299;BC009459;BC047022;BF514313;BQ946394;CH471055;NM_001142501;NM_032355 AAH06299;AAH09459;AAH47022;BAC03790;BAG37998;EAW65037;EAW65038;NP_001135973;NP_115731;Q86VX9 Hs.655014 1658100;1731367;1857359;2140341;2140559 D3S1359;D3S2449;D3S3822;L17931;WI-19760 FLJ97088;MGC13272;SAND1 OTTHUMP00000210493;OTTHUMP00000210494;OTTHUMP00000210920;vacuolar fusion protein MON1 homolog A protein-coding ENSG00000164077 28207 17586 611464 VALIDATED 732423 MOGS mannosyl-oligosaccharide glucosidase This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 p13.1 74541692 74546045 - 74688184 74692537 - 704404;6480464;6907045 7635146;15489334;12626409;12490281;12477932;12145188;11942856;10788335;8786151;8093218;3264072;3099781;2829950;1736542;1704656;11530211;9109416;8673525;2649653;2542563;2541446;2187500;2825177;1678778;12560567;8794362;8794361;8416962;2959866;16547752;12719582;8218172;2355006;2283726;2136376;2076345;16169070;16344560;18303019;22939629;17314511;19805454;23246001;21139048;21906983;20301507;22190034 7841 B4E3B8;B8ZZE2;C9J8D4;C9JDQ1;Q13724;Q58F09 AA292430;ABBA01075601;AC005041;AJ422288;AK292553;AK292719;AK304655;AK307991;AK313355;AMYH01010454;BC002804;BC028337;BC117250;BC117252;BC143934;CH471053;DA520534;DC388420;DC402060;NG_008922;NM_001146158;NM_006302;X87237 AAH28337;AAI17251;AAI17253;BAF85242;BAF85408;BAG65430;CAA60683;CAD19636;EAW99652;EAW99653;NP_001139630;NP_006293;Q13724 Hs.516119 1651222;1770666;2108113 GCS1_8766;RH78317;SHGC-31624 CDG2B;CWH41;DER7;GCS1 OTTHUMP00000202621;OTTHUMP00000202622;OTTHUMP00000202623;OTTHUMP00000202624;glucosidase I;mannosyl-oligosaccharide glucosidase;processing A-glucosidase I APPROVED protein-coding ENSG00000115275 24862 03214 601336 REVIEWED 1605088 MON1B MON1 homolog B (yeast) 16 16 16 q23.1 61522373 61531080 + 75782337 75791044 + 77224836 77233543 + 6480464 17109635;14702039;12828340;12477932;10048485;8889548;19844255;19851296;20198315;20562859;22939629 22879 B4DDZ0;B7WPE4;E7EW32;H3BPL8;H3BQ73;H3BR21;H3BU99;H3BUX9;Q6ZR87;Q7L1V2 AB020679;ABBA01017039;AC009139;AF442486;AK023374;AK023896;AK128411;AK293392;AK296467;AMYH01007824;AW503582;BC024277;BU682558;CF125013;CH471114;NM_014940 AAH24277;AAL35292;BAA74895;BAB14549;BAC87427;BAG51238;BAG56901;BAG59112;EAW95607;EAW95608;NP_055755;Q7L1V2 Hs.513743 1660181;1662371;1676718;5015961;5020740;5024413;5037552 D15S1477;D8S2279;L17809;L17877;RH15625;RH79596;SHGC-32952 HSRG1;SAND2;SRG1 HSV-1 stimulation-related gene 1 protein;HSV-I stimulating-related protein;OTTHUMP00000174959;vacuolar fusion protein MON1 homolog B protein-coding 25020 12342 608954 VALIDATED 1319529 MOK MOK protein kinase This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] 14 14 q32 101764931 101841284 - 102695178 102771531 - 1580863;6480464;7243170 15900605 10421840;19060005;18685487;17549666;15489334;15327990;14702039;12777992;12477932;12206267;12190937;8781117;18029348;21717246;21264954;21900206;11329013;16344560;21377387 5891 B7Z7P6;E5RFX9;E5RHT7;E5RHY4;E5RI85;E7ER76;E7ERR8;H0YBV8;H0YKX6;H0YLZ5;H0YM36;H0YMY9;H3BNF8;Q9UQ07 AB022694;ABBA01048485;ABBA01048486;ABBA01048487;ABBA01048488;ABBA01048489;AK094003;AK094747;AK131542;AK302349;AK312778;AL352978;AL359402;AMYH01006030;AMYH01006031;BC026069;BC043179;BC053536;BG184866;CH471061;DB037795;DB517173;HH961882;HY184670;NM_001272011;NM_014226;NR_073540;NR_073541;NR_073542;NR_073543;U46191;U46192;U46193;U46194 AAB38077;AAB38079;AAB38080;AAB38081;AAB38082;AAB38083;AAB38084;AAB38085;AAB38087;AAH26069;AAH43179;AAH53536;BAA81688;BAG35641;BAH13682;CBX51414;EAW81772;EAW81773;EAW81774;EAW81775;EAW81776;EAW81777;EAW81778;EAW81779;EAW81780;NP_001258940;NP_055041;Q9UQ07 Hs.104119 1659707;1848740;2110951;2151339;5022578 D14S108E;D1S1423;G36349;RH47006;SGC32568 RAGE;RAGE-1;RAGE1 MAPK/MAK/MRK overlapping kinase;MOK protein kinase;OTTHUMP00000227853;OTTHUMP00000227854;OTTHUMP00000227855;RAGE-1;renal cell carcinoma antigen;renal cell carcinoma antigen (MOK protein kinase);renal tumor antigen 1 APPROVED protein-coding ENSG00000080823 9833 09310 605762 REVIEWED 1604635 MON2 MON2 homolog (S. cerevisiae) 12 12 12 q14.1 62529622 62659910 + 61146864 61277630 + 62860597 62991363 + 6480464 18418388;16381901;16344560;16301316;15489336;14702039;12477932;11230166;11076863;10470851;21450827;22863883;21139048;21890473;22678362;23382691 23041 B9EGP5;F8VQS2;F8VWA6;F8VZQ3;F8VZV1;F8VZV6;F8W1Z6;Q7Z3U7 AB017814;AB028963;ABBA01026631;ABBA01026632;ABBA01026633;ABBA01026634;AC026115;AC079035;AK022671;AK092646;AK123842;AL833066;AL834320;AMYH01004537;AMYH01004538;BC065289;BC136621;BC141817;BC142710;BC144309;BC144324;BC151241;BX537415;DA125763;NM_001278469;NM_001278470;NM_001278471;NM_001278472;NM_015026 AAH65289;AAI36622;AAI41818;AAI42711;AAI44310;AAI51242;BAA82992;BAC03935;BAC11707;BAG51103;BAG53968;CAD38989;CAD89933;CAD97657;CAL37997;NP_001265398;NP_001265399;NP_001265400;NP_001265401;NP_055841;Q7Z3U7 Hs.389378 1676065;1699100;1746101;1746571;1757835;5014019;5020948 D5S2354;G35510;G64473;G64492;RH103126;RH79625;SHGC-146659 KIAA1040;MGC35493 OTTHUMP00000242574;OTTHUMP00000242611;OTTHUMP00000242613;OTTHUMP00000242614;OTTHUMP00000242622;protein MON2 homolog protein-coding ENSG00000061987 29177 11123 VALIDATED 1345473 MORC4 MORC family CW-type zinc finger 4 In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] X X X q22.3 106655351 106714844 - 106070620 106130098 - 106183964 106243474 - 1580863;6480464 15790807;15772651;15231748;14702039;14607086;16344560;17608765;21890473;21906983;21963094;21988832;23143602 79710 B4DTP6;Q8TE76 ABBA01035838;ABBA01035839;ABBA01035840;ABBA01035841;ABBA01035842;ABBA01035843;ABBA01035844;ABBA01035845;ABBA01035846;ABBA01035847;ABBA01035848;ABBA01035849;AK021627;AK056235;AK300305;AL158821;AMYH01022826;AY927537;BQ101064;CA448781;CB989767;CH471120;DA713534;EF125209;EF125210;NG_016392;NM_001085354;NM_024657 AAI72254;AAI72575;ABL84747;ABL84748;BAB13859;BAB71125;BAG62058;EAX02725;EAX02726;EAX02727;EAX02728;NP_001078823;NP_078933;Q8TE76 Hs.496544 1679473;1681514;1739507 DXS7548;RH80420;RH93988 FLJ11565;ZCW4;ZCWCC2;dJ75H8.2 MORC family CW-type zinc finger protein 4;OTTHUMP00000023794;OTTHUMP00000226628;zinc finger CW-type coiled-coil domain protein 2;zinc finger, CW type with coiled-coil domain 2 APPROVED protein-coding ENSG00000133131 23485 06757 REVIEWED 1321422 MORC1 MORC family CW-type zinc finger 1 This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009] 3 3 3 q13 107074840 107234730 - 110159776 110319658 - 108677086 108836993 - 6480464 10369865;15489334;12477932;11060461;20379614;21139048 27136 E7ERX1;Q86VD1 ABBA01061698;AC016948;AC112138;AF084946;AK302642;AL353955;AMYH01013382;BC028680;BC050307;CH471052;NM_014429 AAD43004;AAH50307;ADZ15633;BAG63883;CAB89255;EAW79714;NP_055244;Q86VD1 Hs.591296 1658597;1715999 AFM211XF4;RH122742 CT33;MORC;ZCW6 MORC family CW-type zinc finger protein 1;OTTHUMP00000214351;OTTHUMP00000214352;cancer/testis antigen 33;microrchidia, mouse, homolog of APPROVED protein-coding ENSG00000114487 7198 04439 603205 REVIEWED 1349684 MORF4L1P2 mortality factor 4 like 1 pseudogene 2 12 p13.2 12351831 12353802 - 9891081;20697350 326594 ABBA01067829;AC007537;AF100617;AF100618;AMYH01004288;NG_002591;NG_016168 MORF4LP2;MORF4LP4;MRG5 APPROVED pseudo 20401 INFERRED 1342535 MORF4L1P3 mortality factor 4 like 1 pseudogene 3 11 11 11 p15 14820199 14820908 - 14650694 14653128 - 14695128 14695835 - 9891081 326593 ABBA01061101;AC087207;AF100619;AMYH01003404;NG_002590 MORF4LP3;MRG11 APPROVED pseudo 20402 INFERRED 1352945 MORF4L1P1 mortality factor 4 like 1 pseudogene 1 1 1 1 q41 193646387 193647094 + 218493409 218495203 + 220427176 220427883 + 9891081 326591 ABBA01048081;AF100616;AL445435;AMYH01001742;NG_002588;NG_015837 1791596 PMC116076P1 MORF4LP1;MRG1 APPROVED pseudo 20400 INFERRED 4889249 MORF4L1P4 mortality factor 4 like 1 pseudogene 4 13 13 22831379 22832247 - 41773944 41774812 - 100420030 ABBA01021275;AL354696;AMYH01005061;NG_024849 pseudo 39257 INFERRED 3322044 MORF4L1P5 mortality factor 4 like 1 pseudogene 5 X X X q11.2 64894696 64897899 - 64464593 64467835 - 64547871 64551074 - 100129288 ABBA01066998;AL441964;AMYH01022498;NG_022605 MORF4LP5 APPROVED pseudo 35425 INFERRED 6481522 MORF4L1P6 mortality factor 4 like 1 pseudogene 6 X 72694399 72694666 + 100873878 ABBA01059675;AL450108;AMYH01022611;NG_032238 pseudo 39258 INFERRED 4889243 MORF4L1P7 mortality factor 4 like 1 pseudogene 7 1 1 1 q25.2 149447470 149448399 - 174603531 174610142 - 176336842 176337771 - 100130637 ABBA01027863;AL591043;AMYH01001519;NG_022744 1337153 D1S2887 pseudo 39259 INFERRED 1321976 MORC2 MORC family CW-type zinc finger 2 22 22 22 q12.2 15122742 15164330 - 29652600 29694187 - 31322600 31364187 - 1580863;6480464 17081983;16964243;16565220;15489334;15461802;15302935;14607086;12477932;10591208;10048485;21145461;20110259;20225202;16051665;19471022;21693764;21890473;21906983;21963094;23000965;23260667 22880 H7C1V1;H7C3M1;Q9Y6X9 AB020659;ABBA01055314;ABBA01055315;AC004542;AL133637;AMYH01012711;BC019257;BC136782;CH471095;CR456469;NM_014941 AAC12954;AAH19257;AAI36783;AAI41658;BAA74875;CAB63760;CAG30355;CAK54450;CAK54749;EAW59921;EAW59922;NP_055756;Q9Y6X9 Hs.555918 1777234;2138954;2161564;2191367;5093578 A009S11;G31567;G32802;MARC_17891-17892:1025017229:1;RH77827 ZCW3;ZCWCC1 MORC family CW-type zinc finger protein 2;OTTHUMP00000199346;OTTHUMP00000199347;zinc finger CW-type coiled-coil domain protein 1;zinc finger, CW type with coiled-coil domain 1 protein-coding ENSG00000133422 23573 11699 PROVISIONAL 1352910 MORF4L2P1 mortality factor 4 like 2 pseudogene 1 12 4 q12 12243268 12245276 - 54952852 54954618 + 9847074;9891081 643915 ABBA01003397;AC110792;AMYH01014184;NG_011863 1681748;1756971 RH25264;SHGC-144140 MORF4LP4;MRG4 APPROVED pseudo 20403 INFERRED 1348273 MORF4 mortality factor 4 Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.[supplied by OMIM, Apr 2004] 4 4 q34.1 174773662 174774369 - 174537087 174537794 - 1580863;6480464 12407449;10705034;10232582;9891081;2062841;12391155;19769966;12477932;11290425;17460191;20536842;20600782;23251661 10934 ABBA01070380;AC079789;AF100614;AMYH01014722;NG_028235 AAD29871;AAI72311 1791598 PMC116076P2 CSR;CSRB;SEN;SEN1 mortality factor 4;senescence (cellular)-related 1;senescence-related, cellular, 1 APPROVED pseudo 15773 15916 116960 INFERRED 2303852 MORC2-AS1 MORC2 antisense RNA 1 22 22 22 q12.2 15118439 15122783 + 29651033 29653001 + 31318295 31322641 + 6480464 16344560;15489334;14702039;12477932 150291 ABBA01055314;AC004542;AI023837;AK093120;AK098685;AMYH01012711;BC042980;BC065553;BC117160;BC117186;CH471095;DB038414;NR_026920 ACE86614;ACE86618;ACE87295;ACE87299;BAC04061;BAC05377;EAW59920 Hs.592202 1777234;2138954;2161199;5093578;5493689 A009S11;G32802;RH45984;RH77827;UniSTS:490347 C22orf27;FLJ35801;NCRNA00325 APPROVED miscrna ENSG00000235989 26662 08191 VALIDATED 6893063 MORF4L2-AS1 MORF4L2 antisense RNA 1 X q22.2 102942212 102947488 + 12477932;16344560 340544 ABBA01032875;AK124135;AL049610;AMYH01022798;BC043382;BG149455;BI832939;DA678830;NR_038978 Hs.441076 1771633;2170987 A007G13;STS-R92984 miscrna 27991 VALIDATED 1316472 MORN4 MORN repeat containing 4 10 10 10 q24.2 93111622 93131220 - 99364300 99383903 - 99374310 99393913 - 737633;6480464 12477932 17285308;16381901;15489336;11230166;11076863 118812 A6XB87;G3V1L7;Q8NDC4;Q8WVZ3 ABBA01021797;ABBA01021798;AJ312050;AJ431726;AK098791;AK289406;AL355315;AL834132;AMYH01002978;BC010230;BC022054;BC040015;BC093023;CH471066;DQ338435;DQ338436;NM_001098831;NM_178832 AAH10230;AAH22054;AAH40015;AAH93023;ABC61705;ABC61706;BAF82095;CAC85055;CAD24475;CAD38849;CAL37447;CAL38377;EAW49908;EAW49909;EAW49910;EAW49911;NP_001092301;NP_849154;Q8NDC4 Hs.217409 1670620;1683665;1699374;5022578 D1S1423;RH103274;RH91271;SHGC-37499 C10orf83;FLJ25925;RP11-548K23.4;bA548K23.4 44050 protein;MORN repeat-containing protein 4;OTTHUMP00000020221;OTTHUMP00000020223;OTTHUMP00000236948;protein 44050;retinophilin protein-coding ENSG00000171160 24001 16584 VALIDATED 1317400 MORC3 MORC family CW-type zinc finger 3 This gene encodes a protein that localizes to the nuclear matrix. The protein also has RNA binding activity, and has a predicted coiled-coil domain. [provided by RefSeq, Jul 2008] 21 21 21 q22.13 22890890 22947343 + 36614376 36670814 + 37692487 37748944 + 1580863;6480464 16344560;17332504;16567619;16341674;14702039;14607086;12477932;11927593;10830953;8889548;8590280;18029348;20501696;19013454;21988832;22546500;23000965;23153538;20360068;21987572;21252943;22258483;19471022;21139048;21693764;21890473;21906983;21963094;22053931;22505724 23515 H0YHQ4;H0YIR5;Q14149;Q4VBZ9 ABBA01057391;ABBA01057392;ABBA01057393;ABBA01057394;ABBA01057395;AK025327;AK125011;AK292957;AK295133;AMYH01012226;AP000692;AP000693;BC007311;BC042609;BC058002;BC094779;BC132731;BC144116;BM665866;BM786077;BU657895;CH471079;D50926;DA702537;NM_015358 AAH42609;AAH94779;AAI32732;BAA09485;BAA89432;BAF85646;BAG58156;EAX09742;NP_056173;Q14149 Hs.421150 1652478;1659048;1663850;1681953;2111127;2114440;2169896;2169898;5015861;5022578;5037552;7185938 D10S16;D1S1423;D5S573E;D8S2279;RH25359;SHGC-52053;SHGC-87610;SHGC-87618;STS-H79319;STS-R69762;WI-17090 NXP2;ZCW5;ZCWCC3 MORC family CW-type zinc finger protein 3;OTTHUMP00000109017;nuclear matrix protein NXP2;zinc finger CW-type coiled-coil domain protein 3;zinc finger, CW type with coiled-coil domain 3 APPROVED protein-coding ENSG00000159256 23572 10316 610078 REVIEWED 1317423 MORF4L1 mortality factor 4 like 1 15 15 q24 76952227 76977130 + 79165123 79190081 + 1580863;6480464 14506250;14966270;17573780;17460191;17353931;17135209;17008723;16407074;16189514;15647280;15635413;15498874;15489334;15367658;15196461;14702039;12963728;12477932;12397079;12391155;11500496;11042152;9891081;9110174;8619474;20332121;16387653;17577209;19553677;20379614;21378988;21440557;18218781;20844547;21832049;22728643;22939629;19322201;15840729;18781797;21903422;21466675;20972266;21139048;21890473;21906983;21706008;22467210;22505724 10933 B3KTM8;H0YLJ3;H0YLV1;H0YM21;H0YMJ0;H0YMT8;H0YNE0;H0YNI8;H0YNX3;Q9HBP6 ABBA01060598;AC011944;AC103975;AF070664;AF100615;AF109188;AF131847;AF161546;AF167173;AF218011;AK095823;AK098485;AK296650;AK300789;AK310181;AK310592;AK310702;AL137697;AMYH01006842;AY148481;BC002936;BC022845;BC067826;BC121092;BC121093;BC141840;BG771854;BM996530;BX382045;CH471136;CX165647;DB455429;NM_001265603;NM_001265604;NM_001265605;NM_006791;NM_206839 AAD20058;AAD20970;AAD29872;AAF29033;AAF80854;AAG17253;AAH02936;AAH22845;AAH67826;AAI21093;AAI21094;AAI41841;AAN65338;AAQ13497;ABM83528;ABM86763;BAG53140;BAG59248;BAH13347;CAB70879;EAW99144;EAW99145;EAW99146;EAW99147;NP_001252532;NP_001252533;NP_001252534;NP_006782;NP_996670;Q9UBU8 Hs.374503 1678973;1736476;1791596;5493339 D15S688E;PMC116076P1;RH79797;UniSTS:485783 Eaf3;FWP006;HsT17725;MEAF3;MGC10631;MORFRG15;MRG15;S863-6 Esa1p-associated factor 3 homolog;MORF-related gene 15 protein;MORF-related gene on chromosome 15;OTTHUMP00000185040;mortality factor 4-like protein 1;protein MSL3-1;transcription factor-like protein MRG15 protein-coding ENSG00000185787 16989 09532 607303 VALIDATED 1603521 MORN3 MORN repeat containing 3 12 12 12 q24.31 121728304 121746567 - 120573676 120591943 - 122089293 122107560 - 6480464 15489334;12477932;17207965 283385 Q6PF18 ABBA01020180;AC084018;AC140062;AMYH01004815;AY177732;BC057760;CH471054;NM_173855 AAH57760;AAO18675;ADQ32969;EAW98271;EAW98272;EAW98273;EAW98274;NP_776254;Q6PF18 Hs.434154 1679507;1853270 G29080;RH94139 MGC71497 MORN repeat-containing protein 3;OTTHUMP00000240040;OTTHUMP00000240041;OTTHUMP00000240042;membrane occupation and recognition nexus repeat containing protein protein-coding ENSG00000139714 29807 17330 VALIDATED 2303892 MORN2 MORN repeat containing 2 2 2 2 p22.1 38943818 38950565 + 38956314 39041343 + 39103103 39109850 + 6480464 17924679;15489334;14702039;12477932;11181995;19913896;16169070;19451621;23251661 729967 B8ZZ40;B8ZZN7;F8WEM8;Q502X0 ABBA01075022;AC018693;AF449188;AF449189;AF449190;AF449191;AMYH01010269;AY367766;BC095472;BC102032;BC102034;BC102035;BE466470;CH471053;NM_001145450 AAH95472;AAI02033;AAI02035;AAI02036;AAQ73170;EAX00355;NP_001138922;Q502X0 Hs.729207 1694802;1697402;1705876;1719037;1719065;1721629;1734850;1779932 D2S1598E;G43628;G59825;RH102201;RH123225;RH123836;SHGC-154181;SHGC-81200 BLOCK27;MGC111382;MGC126130;MGC126131;MGC126132;MOPT MORN motif protein in testis;MORN repeat-containing protein 2;OTTHUMP00000158741;OTTHUMP00000204075;OTTHUMP00000204077;OTTHUMP00000204078;protein containing single MORN motif in testis protein-coding ENSG00000188010 30166 VALIDATED 1602465 MORN1 MORN repeat containing 1 1 1 1 p36.33-p36.32 263756 338268 + 2242556 2312853 - 2252696 2322993 - 6480464 16710414;15489334;14702039;12477932;21906983 79906 B4DRE3;Q5T088;Q5T089 ABBA01016093;ABBA01016094;AK024003;AK299217;AK310323;AL513477;AL589739;AMYH01000172;BC021704;CH471183;NM_024848 AAH21704;BAB14768;BAG61255;EAW56115;NP_079124;Q5T089 Hs.642701 1644914;1849554;2159742;2178812 G27843;SHGC-74095;SHGC-74112;SHGC-74118 FLJ13941;RP4-740C4.1 MORN repeat-containing protein 1;OTTHUMP00000001498;OTTHUMP00000001499 protein-coding ENSG00000116151 25852 07843 PROVISIONAL 1352282 MOSPD4 motile sperm domain containing 4 404028 AK008233 31345 1347861 MORF4L2 mortality factor 4 like 2 X X X q22 103369434 103382094 - 102817089 102828252 - 102930426 102943086 - 1580863;6480464 14506250;10942595;18593893;17353931;16344560;16341674;15772651;15647280;15489334;14702039;12963728;12477932;12391155;11988016;9891081;8125298;7584028;7584026;19553677;20332121;16230350;17573780;21903422;21628590;20972266;21139048;21693764;21963094;22053931 9643 Q15014;Q5JXX1;Q5JXX2;Q5JXX3;Q5JXX4;Q5JXX6 AB050778;AB050779;ABBA01032875;AF100620;AF167174;AK056012;AK095298;AK126115;AK126427;AK223504;AK302083;AL049610;AMYH01022798;BC056899;BC093013;BM471743;BM835303;CH471190;D14812;DA068448;DA268606;DA987770;DC301727;DC366195;DC419967;DC424668;NM_001142418;NM_001142419;NM_001142420;NM_001142421;NM_001142422;NM_001142423;NM_001142424;NM_001142425;NM_001142426;NM_001142427;NM_001142428;NM_001142429;NM_001142430;NM_001142431;NM_001142432;NM_012286 AAD29873;AAF80855;AAH56899;AAH93013;ABZ92277;ACE87818;ACT64561;BAA03553;BAC22659;BAD97224;BAG51604;BAG54288;BAG54326;BAG63470;EAW54697;EAW54698;EAW54699;EAW54700;EAW54701;NP_001135890;NP_001135891;NP_001135892;NP_001135893;NP_001135894;NP_001135895;NP_001135896;NP_001135897;NP_001135898;NP_001135899;NP_001135900;NP_001135901;NP_001135902;NP_001135903;NP_001135904;NP_036418;Q15014 Hs.326387;Hs.597035 1652609;1681748;1788722;2140011;2144095 DXS7488;RH126514;RH17381;RH25264;SHGC-30053 KIAA0026;MORFL2;MRGX MORF-related gene X protein;MSL3-2 protein;OTTHUMP00000023750;OTTHUMP00000023751;OTTHUMP00000023752;OTTHUMP00000023753;OTTHUMP00000023754;OTTHUMP00000023755;OTTHUMP00000023756;mortality factor 4-like protein 2;protein MSL3-2;transcription factor-like protein MRGX protein-coding ENSG00000123562 16849 02326 300409 VALIDATED 1317107 MORN5 MORN repeat containing 5 9 9 9 q33.2 95570479 95610667 + 123962011 124002182 + 124922190 124962367 + 6480464 12477932;20583170 254956 B7Z7I5;Q5T7S4;Q5VZ52 ABBA01043709;AI026684;AI560944;AK128877;AK302081;AL162423;AL162424;AMYH01021694;BC133690;BC143440;CH471090;NM_198469 AAI33691;BAC87653;BAH13621;EAW87512;EAW87513;EAW87514;NP_940871;Q5VZ52 Hs.71428 1786978 SHGC-145840 C9orf113;C9orf18;FLJ46909;FLJ50034;RP11-498E2.5 MORN repeat-containing protein 5;OTTHUMP00000022035 protein-coding ENSG00000185681 17841 12947 VALIDATED 1347086 MOSPD1 motile sperm domain containing 1 X X X q26.3 134408422 134436071 - 133849328 133876963 - 134021662 134049297 - 737633;1580863;6480464 12477932 15772651;15533722;15489334;18781797;21139048 56180 Q2I381;Q9UJG1 ABBA01042499;ABBA01042500;ABBA01042501;ABBA01042502;ABBA01042503;AF086333;AK299074;AK299172;AK307196;AK316570;AL137163;AMYH01022996;BC005700;CH471107;CQ834430;DQ323992;NM_019556;Z83826 AAH05700;ABC88594;ABM82054;ABM85233;BAG38159;BAG61140;BAG61218;CAB69662;CAH05430;EAX11743;EAX11744;NP_062456;Q9UJG1 Hs.743299 1655533;1672056;1687752;2133740;2142522;2219940 AL008943;MOSPD1__6334;RH45483;RH47898;RH93773;WI-12657 DJ473B4 OTTHUMP00000033250;OTTHUMP00000033251;OTTHUMP00000033252;motile sperm domain-containing protein 1 protein-coding ENSG00000101928 25235 06483 300674 PROVISIONAL 1312722 MOSPD3 motile sperm domain containing 3 This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008] 7 7 7 q22 94939506 94942781 + 100047661 100050936 + 100209725 100213000 + 737633;1582660;1580863;6480464 12477932;15533722 15489334;12690205;9799793 64598 C9J3M4;F8WF07;O75425 AACC02000084;ABBA01013197;AC099394;AMYH01017740;BC005042;BC009482;BC011653;BC028475;BG164079;BG707362;BQ923161;CH236956;CH471091;NM_001040097;NM_001040098;NM_001040099;NM_023948 AAH05042;AAH11653;EAL23824;EAW76511;EAW76512;EAW76513;EAW76514;NP_001035186;NP_001035187;NP_001035188;NP_076438;O75425 Hs.521086 1697528;2191567 MARC_26575-26576:1033748265:1;RH102269 CDS3;NET30 OTTHUMP00000215914;OTTHUMP00000215915;OTTHUMP00000215916;OTTHUMP00000215917;motile sperm domain-containing protein 3 APPROVED protein-coding ENSG00000106330 25078 12370 609125 REVIEWED 735699 MOS v-mos Moloney murine sarcoma viral oncogene homolog MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009] 8 8 q11 57188055 57189095 - 57025501 57026541 - 1580863;6480464;6907045 17474147;18550795;18391951;18246541;17410130;16401344;15489334;15341746;15188402;12477932;12022922;11180847;10439036;10376524;9552420;9008413;9001211;7540181;6287464;3000766;20186124;20546612;17207965;22252584 4342 P00540 ABBA01041763;AC107376;AMYH01018735;BC069569;BC069590;BC106737;BC106738;CH471068;J00119;NM_005372 AAA52029;AAH69569;AAH69590;AAI06738;AAI06739;ADQ31986;EAW86773;NP_005363;P00540 Hs.533432 1667751;1744093;2110577;2190851;5492591 GDB:386777;MOS;MOS__6333;RH17579;UniSTS:481735 MGC119962;MGC119963;MSV OTTHUMP00000226404;c-mos;oncogene MOS, Moloney murine sarcoma virus;oocyte maturation factor mos;proto-oncogene c-Mos;proto-oncogene serine/threonine-protein kinase mos APPROVED protein-coding ENSG00000172680 7199 01816 190060 VALIDATED 6892656 MPC1L mitochondrial pyruvate carrier 1-like X p11.4 40482818 40483388 + 16344560 347411 P0DKB6 AA971068;ABBA01046796;AC092473;AMYH01022224;DB337430;NM_001195522 NP_001182451;P0DKB6 Hs.128084 1697782 RH102415 brain protein 44-like protein 2;mitochondrial pyruvate carrier 1-like protein protein-coding 44205 VALIDATED 1641965 MOXD2P monooxygenase, DBH-like 2, pseudogene 7 7 7 q34 136718050 136724380 - 141587033 141593382 + 141940556 141946886 - 6480464 17642472;15489334;12853948;8650574;18523312;18777093;19051206;19056690;19380806;2144610;2426193;3011602;3860845;3983641 100289017 A6NHM9 ABBA01034123;AC231381;AMYH01018007;DY655576;NG_001333;NR_024346;U66059 A6NHM9 Hs.641504 MOXD2 APPROVED pseudo ENSG00000240268 33605 VALIDATED 1345261 MPD1 myopathy, distal 1 7240710 7847377 4347 7206 160500;181430;192600;608358;613426 1350806 MOSPD2 motile sperm domain containing 2 X X X p22.2 19006911 19054670 + 14801484 14849378 + 14891527 14939459 + 737633;1580863;6480464 12477932 18029348;17081983;15489334;14702039;16344560;21139048;21890473;21906983;19322201;23000965;23192594 158747 Q8NHP6;R4GMN1;R4GMW5;R4GNB6 ABBA01071244;ABBA01071245;ABBA01071246;ABBA01071247;ABBA01071248;ABBA01071249;AC121340;AC140846;AI744083;AK057941;AK093075;AK315781;AL832230;AL834345;AMYH01022103;BC030641;CH471074;DA708010;NG_017159;NM_001177475;NM_152581 AAH30641;ABW03583;BAC04043;CAD39011;EAW98864;EAW98865;EAW98866;EAW98867;NP_001170946;NP_689794;Q8NHP6 Hs.744919 1673790;2129754;2187456 RH68032;RH77754;WI-14561 DKFZp686C1553;MGC26706 OTTHUMP00000022954;motile sperm domain-containing protein 2 protein-coding 28381 06642 VALIDATED 1320700 MOXD1 monooxygenase, DBH-like 1 6 6 6 q23.2 133364075 133469523 - 132658887 132764357 - 132617194 132722664 - 6480464 15337741;12975309;12477932;9751809;21890473;20581860;21900206;23251661 26002 A6PVS1;Q6UVY6 ABBA01025880;AI751100;AJ420565;AK074879;AK226054;AL023578;AL080058;AL357034;AMYH01016676;AY007239;AY359094;BC018756;CH471051;NM_015529 AAG09636;AAH18756;AAQ89452;ABM83090;ABM86284;BAC11263;CAB45692;EAW48032;EAW48033;EAW48034;NP_056344;Q6UVY6 Hs.6909 1338633;1644920;1648376;1684848;1723595;1754271;1798546;1799600;1800770;1806214;1807856;1808692;1810806;1811172;1811342;1814170;1814302;1814384;1815358;1815504;1815830;1816866;1817820;1818616;1818840;1819870;1820436;1821234;1822406;1824908;1826720;1827534;1828924;1830412;1832490;1832688;1834846;1836260;1837972;1838116;1838274;1839112;1839872;1842606;1842884;1843320;1845120;1846346;1858664;1920164;1920166;1920168;1920170;1920172;1920174;1920176;1920178;1920180;1920182;1920184;1920186;1920188;1920190;1920192;1920194;1920196;1920198;1920200;1920202;1920204;1920206;1920208;1920210;1920212;1920214;1920216;1920218;1920220;1920222;1920224;1920226;1920228;1920230;1920232;1920234;1920236;1920238;1920240;1920242;1920244;1920246;1920248;1920250;1920252;1920254;1920256;1920258;1920260;1920262;1920264;1920266;1920268;1920270;1920272;1920274;1920276;1920278;1920280;1920282;1920284;1920286;1920288;1920290;1920292;1920294;1920296;1920298;1920300;1920302;1920304;1920306;1920308;1920310;1920312;1920314;1920316;1920318;1920320;1920322;1920324;1920326;1920328;1920330;1920332;1920334;1920336;1920338;1920340;1920342;1920344;1920346;1920348;1920350;1920352;1920354;1920356;1920358;1920360;1920362;1920364;1920366;1920368;1920370;1920372;1920374;1920376;1920378;1920380;1920382;1920384;1920386;1920388;1920390;1920392;1920394;1920396;1920398;1920400;1920402;1920404;1920406;1920408;1920410;1920412;1920414;1920416;1920418;1920420;1920422;1920424;1920426;1920428;1920430;1920432;1920434;1920436;1920438;1920440;1920442;1920444;1920446;1920448;1920450;1920452;1920454;1920456;1920458;1920460;1920462;1920464;1920466;1920468;1920470;1920472;1920474;1920476;1920478;1920480;1920482;1920484;1920486;1920488;1920490;1920492;1920494;1920496;1920498;1920500;1920502;1920504;1920506;1920508;1920510;1920512;1920514;1920516;1920518;1920520;1920522;1920524;1920526;1920528;1920530;1920532;1920534;1920536;1920538;1920540;1920542;1920544;1920546;1920548;1920550;1920552;1920554;1920556;1920558;1920560;1920562;1920564;1920566;1920568;1920570;1920572;1920574;1920576;1920578;1920580;1920582;1920584;1920586;1920588;1920590;1920592;1920594;1920596;1920598;1920600;1920602;1920604;1920606;1920608;1920610;1920612;1920614;1920616;1920618;1920620;1920622;1920624;1920626;1920628;1920630;1920632;1920634;1920636;1920638;1920640;1920642;1920644;1920646;1920648;1920650;1920652;1920654;1920656;1920658;1920660;1920662;1920664;1920666;1920668;1920670;1920672;1920674;1920676;1920678;1920680;1920682;1920684;2206700;2206702;2206704;2206706;2206708;2206710;2206712;2206714;2206716;2206718;2206720;2206722;2206724;2206726;2206728;2206730;2206732;2206734;2206736;2206738;2206740;2206742;2206744;2206746;2206748;2206750;2206752;2206754;2206756;7185676;7186596 D6S413;ECD00112;ECD00652;ECD01247;ECD04062;ECD04903;ECD05328;ECD06401;ECD06584;ECD06669;ECD08114;ECD08180;ECD08221;ECD08715;ECD08788;ECD08955;ECD09479;ECD09964;ECD10372;ECD10484;ECD11005;ECD11293;ECD11694;ECD12291;ECD13553;ECD14474;ECD14883;ECD15589;ECD16340;ECD17384;ECD17485;ECD18572;ECD19291;ECD20157;ECD20230;ECD20311;ECD20735;ECD21119;ECD22510;ECD22649;ECD22868;ECD23777;ECD24393;ECD24533;NIB446;REN30900;REN30901;REN30902;REN30903;REN30904;REN30905;REN30906;REN30907;REN30908;REN30909;REN30910;REN30911;REN30912;REN30913;REN30914;REN30915;REN30916;REN30917;REN30918;REN30919;REN30920;REN30921;REN30922;REN30923;REN30924;REN30925;REN30926;REN30927;REN30928;REN30929;REN30930;REN30931;REN30932;REN30933;REN30934;REN30935;REN30936;REN30937;REN30938;REN30939;REN30940;REN30941;REN30942;REN30943;REN30944;REN30946;REN30947;REN30948;REN30949;REN30951;REN30952;REN30953;REN30954;REN30955;REN30956;REN30957;REN30958;REN30959;REN30960;REN30961;REN30962;REN30963;REN30964;REN30965;REN30966;REN30967;REN30968;REN30969;REN30970;REN30971;REN30972;REN30973;REN30974;REN30975;REN30976;REN30977;REN30978;REN30979;REN30980;REN30981;REN30982;REN30983;REN30984;REN30985;REN30986;REN30987;REN30988;REN30989;REN30990;REN30991;REN30992;REN30993;REN30994;REN30995;REN30996;REN30997;REN30998;REN30999;REN31000;REN31001;REN31002;REN31003;REN31004;REN31005;REN31006;REN31007;REN31008;REN31009;REN31010;REN31011;REN31012;REN31013;REN31014;REN31015;REN31016;REN31017;REN31018;REN31019;REN31020;REN31021;REN31022;REN31023;REN31024;REN31025;REN31026;REN31027;REN31028;REN31029;REN31030;REN31031;REN31032;REN31033;REN31034;REN31035;REN31036;REN31037;REN31038;REN31039;REN31040;REN31041;REN31042;REN31043;REN31044;REN31045;REN31046;REN31047;REN31048;REN31049;REN31050;REN31051;REN31052;REN31053;REN31054;REN31055;REN31056;REN31057;REN31058;REN31059;REN31060;REN31061;REN31062;REN31063;REN31064;REN31065;REN31066;REN31067;REN31068;REN31069;REN31070;REN31071;REN31072;REN31073;REN31074;REN31075;REN31076;REN31077;REN31078;REN31079;REN31080;REN31081;REN31082;REN31083;REN31084;REN31085;REN31086;REN31087;REN31088;REN31089;REN31090;REN31091;REN31092;REN31093;REN31094;REN31095;REN31096;REN31097;REN31098;REN31099;REN31100;REN31101;REN31102;REN31103;REN31104;REN31105;REN31106;REN31107;REN31108;REN31109;REN31110;REN31111;REN31112;REN31113;REN31114;REN31115;REN31116;REN31117;REN31118;REN31119;REN31120;REN31121;REN31122;REN31123;REN31124;REN31125;REN31126;REN31127;REN31128;REN31129;REN31130;REN31131;REN31132;REN31133;REN31134;REN31135;REN31136;REN31137;REN31138;REN31139;REN31140;REN31141;REN31142;REN31143;REN31144;REN31145;REN31146;REN31147;REN31148;REN31150;REN31151;REN31152;REN31153;REN31154;REN31155;REN31156;REN31157;REN31158;REN31159;REN31160;REN31161;REN31162;REN31163;RH119733;RH45731;RH79871;SHGC-132284;stSG626642;stSG626643;stSG626644;stSG626645;stSG626646;stSG626647;stSG626648;stSG626649;stSG626650;stSG626651;stSG626652;stSG626653;stSG626654;stSG626655;stSG626656;stSG626657;stSG626658;stSG626659;stSG626660;stSG626661;stSG626662;stSG626663;stSG626664;stSG626665;stSG626666;stSG626667;stSG626668;stSG626669;stSG626670 DKFZp564G202;MOX;PRO5780;dJ248E1.1 DBH-like monooxygenase protein 1;OTTHUMP00000061520;OTTHUMP00000195175;dopamine-oxygenase;monooxygenase X protein-coding ENSG00000079931 21063 10093 609000 VALIDATED 1345883 MOV10L1 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 22 22 22 q13.33 34403662 34475028 + 48870621 48942243 + 50528435 50600116 + 1580863;6480464 11839499;11279525;15461802;14702039;12477932;10591208;15342556;20379614;23251661 54456 F2Z2H1;H7C1D5;Q9NXW3 ABBA01011369;ABBA01011370;ABBA01011371;AF285604;AK000033;AK090740;AK092675;AK302401;AK303017;AK307675;AL022328;AL034546;AL133068;AMYH01012892;BC029552;BC042828;BC063837;BC140944;BC150137;BC152539;BP382225;CH471138;CR456466;DB451595;NM_001164104;NM_001164105;NM_001164106;NM_018995 AAH29552;AAH42828;AAI39928;AAI40945;AAI50138;AAI52540;AAK31983;BAA90895;BAC03511;BAG52591;BAH13697;BAH13879;CAB61391;CAG30352;CAK54447;CAK54746;EAW73492;EAW73493;NP_001157576;NP_001157577;NP_001157578;NP_061868;Q9BXT6 Hs.62880 1682724;1686394;1781130;5022322;5107159 D11S2560;G65766;RH94076;RH94173;stdJ406J13S CHAMP;DJ402G11.8;DKFZp434B0717;FLJ33421 MOV10-like protein 1;Mov10-like 1;OTTHUMP00000028556;OTTHUMP00000196715;OTTHUMP00000196718;cardiac helicase activated by MEF2C protein;moloney leukemia virus 10-like protein 1;putative helicase Mov10l1 APPROVED protein-coding ENSG00000073146 7201 16158 605794 REVIEWED 1348832 MPE malignant proliferation, eosinophil 4348 7209 1348242 MPFD myopathy with fiber type disproportion 4349 7210 1352706 MPC1 mitochondrial pyruvate carrier 1 The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012] 6 6 6 q27 167517772 167535855 - 166698397 166716476 - 166778407 166796501 - 6480464 17672918;15489334;12477932;11252172;11042152;10810093;16169070;22628558;20877624;19834535;21139048 51660 H7BXW7;Q5TI65;Q9Y5U8 ABBA01033445;AF125101;AF151887;AF275811;AK312201;AL022069;AL556427;AL561589;AMYH01016848;BC000810;BF665465;BG828174;CH471051;DC402302;NG_032888;NM_001270879;NM_016098;NR_073093 AAD34124;AAD39918;AAG23822;AAH00810;BAG35134;EAW47527;EAW47528;EAW47529;EAW47530;EAW47531;NP_001257808;NP_057182;Q9Y5U8 Hs.172755 1678529;1767127;1767129;1858458;2109093;2142415;2151776;2181268 BRP44L_9749;D6S2045;G20555;RH46753;RH79004;STS-G20555;STS-H93543;STS-T87067 BRP44L;CGI-129;MPYCD;dJ68L15.3 HSPC040 protein;OTTHUMP00000017591;brain protein 44-like protein;mitochondrial pyruvate carrier 1 APPROVED protein-coding ENSG00000060762 21606 07091 614738;614741 REVIEWED 1321654 MOV10 Mov10, Moloney leukemia virus 10, homolog (mouse) 1 1 1 p13.2 111447519 111473840 + 113018990 113044884 + 113217048 113243368 + 1580863;6480464 8125298;16289642;18552826;17353931;17081983;16710414;16381901;15489336;15489334;14702039;12477932;11230166;11076863;10997877;20140200;17148452;17643375;19665004;20543829;21145461;22939629;20215113;22727223;20360068;21139048;21890473;21903422;21906983;22105071;20186120;22586326;21909110;21909115;22990118;12226669;21282530;21642987;23000965;23455922;22791714;20668078;22505724 4343 Q5JR04;Q9HCE1 AB046851;ABBA01068416;AK023297;AK057353;AK074174;AK226011;AK301229;AK308874;AK310512;AL603832;AL832805;AL833353;AMYH01000949;BC002548;BC004499;BC009312;BC025339;BU623853;BX647787;CH471122;NM_001130079;NM_020963 AAH02548;AAH04499;AAH09312;ABM83114;ABM87844;BAB13457;BAB14514;BAB85000;BAG51905;BAH13436;CAL37885;CAL38554;EAW56528;EAW56529;EAW56530;EAW56531;NP_001123551;NP_066014;Q9HCE1 Hs.514941 1672387;1762421;5109707 D1S2002E;SHGC-146252;SHGC-75344 DKFZp667O1423;FLJ32791;KIAA1631;fSAP113;gb110 OTTHUMP00000013677;OTTHUMP00000013678;OTTHUMP00000013679;OTTHUMP00000013680;functional spliceosome-associated protein 113;moloney leukemia virus 10 protein;putative helicase MOV-10 protein-coding ENSG00000155363 7200 14732 610742 VALIDATED 736355 MPEG1 macrophage expressed 1 11 11 11 q12.1 56335080 56339591 - 58732559 58737070 - 58975983 58980494 - 6480464 16344560;14702039;12477932;7888681;23257510 219972 Q2M385 ABBA01021496;AK074166;AK095457;AK097211;AK097881;AMYH01003661;AP002358;AW205154;BC104997;BC112230;CH471076;DA946058;L20314;NM_001039396 AAA36324;AAI04998;AAI12231;BAB84992;BAG53544;EAW73839;NP_001034485;Q2M385 Hs.744920 1650464;1662656;1669563;1782478;2142767;2161091 D11S4376;RH16197;RH17632;SHGC-172487;SHGC-34178;STS-T98251 MGC132657;MGC138435;MPG1;MPS1;Mpg-1 MPS1 protein;OTTHUMP00000222498;likely ortholog of mouse macrophage expressed gene 1;macrophage expressed 1;macrophage expressed gene 1;macrophage gene 1 protein;macrophage-expressed gene 1 protein;partial protein protein-coding ENSG00000197629 29619 610390 VALIDATED 1317039 MPDU1 mannose-P-dolichol utilization defect 1 This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 17 17 17 p13.1-p12 7513288 7517853 + 7427854 7432247 + 7486965 7491530 + 1298632;1580863;6480464;7240710 9653160 17353931;11733564;11179430;18676680;15862967;15342556;14702039;12477932;11733556;11042152;8663248;8125298;18029348;19170196;19625176;19692168;17207965;21963094;22363504;21139048;22197929;22505724 9526 B4DT74;I3L1D2;I3L261;I3L295;I3L405;I3L4E0;I3L4T1;J3KSI4;J3KT75;J3KTK8;J3QQZ4;J3QRD5;J3QS48;J3QW43;O75352 ABBA01054873;AC016876;AF038961;AF059752;AF258568;AK027742;AK055923;AK075299;AK225401;AK225432;AK297001;AK297691;AK300083;AK300140;AK314527;AMYH01008085;BC001898;BG776573;BM127836;BM128375;BP325875;BQ002417;CH471108;CQ783898;DC421138;DQ499597;NG_009204;NM_004870;NR_024603 AAC39875;AAG23771;AAG43121;AAH01898;ABF54968;ADQ33163;BAB55334;BAB71046;BAG37121;BAG52103;BAG59539;BAG60049;BAG61886;BAG61926;CAF86914;EAW90158;EAW90159;EAW90160;EAW90161;EAW90162;EAW90163;NP_004861;O75352 Hs.246381 1665612;1695012;2151291;2187387;2218048;5037552 D8S2279;G44719;SOX15_2765;STS-R55342;WI-15346;WI-22031 CDGIF;FLJ14836;HBEBP2BPA;Lec35;My008;PP3958;PQLC5;SL15 HBeAg-binding protein 2 binding protein A;OTTHUMP00000135286;mannose-P-dolichol utilization defect 1 protein;suppressor of Lec15 and Lec35 glycosylation mutation homolog APPROVED protein-coding ENSG00000129255 7207 04951 604041;609180 REVIEWED 737285 MPDZ multiple PDZ domain protein 9 9 p23 13095703 13240365 - 13105703 13279563 - 1580863;6480464 16192269;19420109;19255144;19175764;19071123;18378672;17672918;17081983;16452527;15364909;15316081;15312654;15164053;14702039;14499480;12477932;12403818;11802782;11689568;11358867;11150294;11018522;11000240;10967549;9537516;19483657;19615732;19874574;19913121;20628086;21890473;21762291;23240096;23291589;16678097;22053931 8777 B3KQC9;B7ZB24;F5H1U9;F5H8D6;F8WDQ8;H0YF96;H0YFZ6;H0YGQ3;H0YH70;H3BM19;Q5JTX6 AB210041;ABBA01065314;AF093419;AJ001319;AK058011;AK074721;AK091945;AK098775;AK294823;AK294976;AK307924;AK307988;AK316489;AL161449;AL162386;AL353639;AMYH01019232;AMYH01019233;AMYH01019234;AMYH01019235;BC140793;BC144564;BU621500;CH471071;CR936648;CX782625;NM_001261406;NM_001261407;NM_003829 AAC61870;AAI40794;AAI44565;AAI72387;BAC05409;BAE06123;BAG51991;BAG52447;BAG57936;BAG58047;BAH14860;CAA04680;CAI56786;EAW58704;EAW58705;EAW58706;NP_001248335;NP_001248336;NP_003820;O75970 Hs.169378 1680483;1760179;1787090;2108263;2128896;2128898;2137005;2161238;2161240 A005N27;D9S1039E;G20352;MPDZ_8854;RH47575;RH93917;SHGC-132458;SHGC-155018;SHGC-32204 DKFZp781P216;FLJ25909;FLJ34626;FLJ90240;HYC2;MUPP1 OTTHUMP00000022777;OTTHUMP00000239454;OTTHUMP00000239514;OTTHUMP00000239515;OTTHUMP00000239517;multi-PDZ domain protein 1;multiple PDZ domain protein protein-coding ENSG00000107186 7208 09155 603785;615219 VALIDATED 1604029 MPC2 mitochondrial pyruvate carrier 2 1 1 1 q24 140996568 141015532 - 166153934 166171857 - 167885913 167906307 - 6480464 22628558;19064610;16710414;16381901;15489336;15489334;12477932;11256614;11230166;11076863;3022128;16169070;19536175;20877624;21139048;21890473;22037555;20876399 25874 O95563;Q5R3B4 ABBA01047239;AK290126;AK311913;AL035304;AL110297;AL554033;AMYH01001484;BC104157;BC104158;CH471067;CR407632;CR533473;DC374001;FB746595;NM_001143674;NM_015415;NR_026550;Z97876 AAI04158;AAI04159;BAF82815;BAG34854;CAA22909;CAB53738;CAG28560;CAG38504;CAL37963;CAV31074;EAW90813;EAW90814;EAW90815;EAW90816;NP_001137146;NP_056230;O95563 Hs.517768 1674195;1852140;2154686;2169483 D1S3555;G09946;RH11475;SGC32847 BRP44;DKFZp564B167;MGC125752;MGC125753 OTTHUMP00000032516;OTTHUMP00000032517;OTTHUMP00000032518;brain protein 44;mitochondrial pyruvate carrier 2 APPROVED protein-coding ENSG00000143158 24515 08525 614737 VALIDATED 1322330 MPL myeloproliferative leukemia virus oncogene In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008] 1 1 p34 43576062 43592722 + 43803475 43820135 + 1600454;1580863;6480464;6907045;7240710 10077649 9766811;9122198;8639837;8541543;7534285;2550356;2175677;1608974;8020956;18029348;19372714;19351817;19341705;19302922;19261614;19196872;19194467;19175989;19099657;19097174;19036112;19029146;18754026;18687690;18669880;18566540;18528423;18519816;18487512;18464114;18451306;18422784;18297515;18295514;18250227;18174381;18040685;17920755;17920754;17709604;17666371;17658515;17644747;17540852;17507998;17408465;17408398;17379761;17157161;17107350;17052978;16868251;16834459;16470591;16454716;16088917;15951300;15899890;15741216;15647951;15452260;15307100;15269348;15210714;14995067;14764528;12200367;12145691;12091373;12010817;11961237;11784712;11133753;11071383;11054408;10979953;10971406;10918061;10517496;10391209;10224114;17956691;19274616;19469654;19483125;19521067;19560457;19643476;19728022;19996410;20111067;20113333;20113830;20151976;20166549;20232601;20304805;20331763;20410924;20508616;21326037;20485371;8202154;22180433;22649097;20529857;21174945;20520633;20890078;21051030;21489838;21225925;19608689;19713221;21674576;21402716;21570117;21605620;21841770;21228032;21555228;21892137;21691276;21858098;22102270;22093990;22290824;22378845;22338178;22565617;23511495;22337712;22613795;23359689;23351976;23575445 4352 P40238;Q5JUY5 ABBA01050957;ABBA01050958;AL139289;AMYH01000557;CH471059;DQ234353;M90102;M90103;NG_007525;NM_005373;U68159;U68160;U68161;U68162 AAA69971;AAA69972;AAB08424;AAB08425;AAI40299;AAI53093;ABB29982;EAX07103;EAX07104;EAX07105;NP_005364;P40238 Hs.82906 1681292;1792728;1792730;1792732;1792734;1792736;2155983;2191653;5014023 D13S1553;MARC_4067-4068:996679330:1;PMC15907P1;PMC15907P2;PMC15907P3;PMC15907P4;PMC15907P5;RH80231;SHGC-74727 C-MPL;CD110;MPLV;THCYT2;TPOR OTTHUMP00000008582;OTTHUMP00000008583;TPO-R;myeloproliferative leukemia protein;proto-oncogene c-Mpl;thrombopoietin receptor APPROVED protein-coding 7217 01161 159530;254450;601977;604498 REVIEWED 731894 MPG N-methylpurine-DNA glycosylase 16 16 p13.3 67018 75845 + 127018 135850 + 1580863;1358139;6480464;6907045 10854423;17353931;1645538;10583946;18029348;19237606;19219989;19183483;18839966;18706524;18270339;18191412;22079122;17029639;16341674;16195237;15616553;15489334;15302935;15247209;14761960;14688248;14567703;14555760;12820404;12477932;12077143;12014652;11157797;11106395;9790531;8475094;8318735;1924375;1874728;20873830;12016206;14761949;19616486;19864471;20201599;20226869;20347426;20522537;8016081;20574454;21063071;21244040;21832049;21349833;18482256;22801474;23290262;22990118;23074184;21877721;21139048;21890473;22148158;22156195;21907836;21044950;22496614;23446634;23000965;23537643;22190034 4350 A2IDA3;Q1W6H1;Q9NNX5 ABBA01030394;AE006462;AF499437;AK308654;AL520052;AMYH01006982;AW083039;AY258284;BC014991;BG823448;BM796301;CH471112;DQ431198;L10752;M71215;M74905;M99626;NM_001015052;NM_001015054;NM_002434;S51033;X56528;Z69720 AAA58369;AAA58627;AAB19537;AAB46421;AAF77073;AAH14991;AAK61213;AAM14628;AAP82229;ABD95906;ABM86838;CAA39875;CAA93540;CAI95610;CAM26663;EAW85870;EAW85871;EAW85872;NP_001015052;NP_001015054;NP_002425;P29372 Hs.459596 1748221;1748223;1748225;1748289;1748291;1748293;1759953;1767699;1802860;1804564;1805382;1810488;1811316;1811704;1821940;1823054;1827320;1833196;2046928;2046930;2046932;2046934;2046936;2046938;2046940;2046942;2046944;2046946;2046948;2046950;2046952;2046954;2046956;2046958;2046960;2046962;2046964;2046966;2046968;2046970;2046972;2046974;2046976;2046978;2046980;2046982;2046984;2046986;2046988;2046990;2046992;2046994;2046996;2046998;2047000;2047002;2047004;2047006;2047008;2047010;2047012;2104362;2104364;2104366;2104368;2104370;2104372;2182018 ECD02318;ECD03213;ECD03638;ECD06237;ECD06656;ECD06856;ECD12056;ECD12615;ECD14775;ECD17740;G66700;G66701;G66702;G66703;G66706;G66708;REN94593;REN94594;REN94595;REN94596;REN94597;REN94598;REN94599;REN94600;REN94601;REN94602;REN94603;REN94604;REN94605;REN94606;REN94607;REN94608;REN94609;REN94610;REN94611;REN94612;REN94613;REN94614;REN94615;REN94616;REN94617;REN94618;REN94619;REN94621;REN94622;REN94623;REN94624;REN94625;REN94626;REN94627;REN94628;REN94629;REN94630;REN94631;REN94632;REN94633;REN94634;REN94635;REN94636;RH78394;SHGC-30625;SHGC-60793;stSG608848;stSG608849;stSG608851;stSG608853;stSG608854;stSG608855 AAG;ADPG;APNG;CRA36.1;MDG;Mid1;PIG11;PIG16;anpg 3' end of the Mid1 gene, localized 68 kb upstream the humanzeta globin gene on 16p;3-alkyladenine DNA glycosylase;3-methyladenine DNA glycosidase;CRA36.1 (3-methyl-adenine DNA glycosylase);DNA-3-methyladenine glycosylase;N-methylpurine-DNA glycosylase, MPG;OTTHUMP00000045554;OTTHUMP00000067137;OTTHUMP00000194908;alkyladenine DNA glycosylase;proliferation-inducing protein 11;proliferation-inducing protein 16 protein-coding ENSG00000103152 7211 06766 156565 VALIDATED 1316939 MPHOSPH10 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010] 2 2 2 p13.3 71208139 71227923 + 71210952 71230738 + 71357444 71377232 + 1580863;6480464;6907045 9450966;12655004;17081983;15635413;15489334;14702039;12477932;12429849;11790298;8885239;16344560;18029348;19389623;19471022;21693764;21906983;22586326 10199 C9JX83;O00566 ABBA01075549;AC007881;AI056034;AK056862;AK310931;AMYH01010427;BC015158;BC041084;BC126389;CH471053;DA867290;NM_005791;X98494 AAI26390;BAG51817;CAA67120;EAW99776;EAW99777;NP_005782;O00566 Hs.656208 1734822;1757323;5037552 D2S1581E;D8S2279;SHGC-144725 CT90;MPP10;MPP10P OTTHUMP00000160129;OTTHUMP00000203603;U3 small nucleolar ribonucleoprotein protein MPP10;m phase phosphoprotein 10 APPROVED protein-coding ENSG00000124383 7213 10404 605503 REVIEWED 1321401 MPHOSPH6 M-phase phosphoprotein 6 16 16 16 q23.3 66480526 66502591 - 80739268 80761330 - 82181767 82203829 - 1580863;6480464 15231747;8885239;17081983;16396833;16169070;15635413;15489334;12477932;11719186;8125298;20379614;17207965;17412707;22939629;18029348;21906983;21628590;23251661;20531389 10200 H3BNK8;H3BNT4;H3BSB3;H3BU96;Q99547 ABBA01016950;AC138304;AI831131;AK222667;AK314163;AMYH01007856;AW175781;BC005242;BC011020;BC029395;BC031017;BU595100;BU622913;CH471114;NM_005792;X98263 AAH05242;AAH11020;AAH29395;AAH31017;ADQ32393;BAD96387;BAG36847;CAA66916;EAW95516;EAW95517;EAW95518;NP_005783;Q99547 Hs.344400 2191329 MARC_17459-17460:1022851172:1 MPP;MPP-6;MPP6 M-phase phosphoprotein 6;OTTHUMP00000174980 protein-coding ENSG00000135698 7214 16111 605500 VALIDATED 1313543 MPHOSPH9 M-phase phosphoprotein 9 12 12 12 q24.31 123232534 123298019 - 122206899 122272394 - 123640946 123706441 - 1580863;2316985;6480464 19879194 8885239;14702039;19913121;20628086;20936779;12477932;19525953;19615732;20546594;19850743;20309963;18029348;16344560 10198 A8MVQ6;F5GYG6;F5GYP5;F5GZJ0;F5H1U6;F5H1W2;F5H2G0;F5H2I5;F5H4J0;F5H5S6;F5H798;H0YFS3;H0YG46;J3KNE4;Q99550 ABBA01060431;ABBA01060432;ABBA01060433;ABBA01060434;AC073857;AK023016;AK091181;AK096541;AL096751;AMYH01004837;BC130440;BC144016;BC144017;BF793354;BU070541;BX092492;CH471054;CX782912;DB071469;DB111293;NM_022782;NR_103517;X98258 AAI30441;BAB14359;BAG52299;CAA66911;EAW98388;EAW98389;EAW98390;EAW98391;EAW98392;EAW98393;EAW98394;NP_073619;Q99550 Hs.577404 1686895;1846698;2108829;2166594;2186637 MPHOSPH9_9059;RH98455;STS-N23129;STS-X98258;WI-17926 DKFZp434J034;FLJ12954;MPP-9;MPP9 M-phase phosphoprotein 9;OTTHUMP00000239617;OTTHUMP00000239619;OTTHUMP00000239621 protein-coding ENSG00000051825 7215 12022 605501 VALIDATED 1605915 MPND MPN domain containing 19 19 19 p13.3 4281776 4298329 + 4294570 4311075 + 4343524 4360083 + 6480464 12477932;19615732 84954 M0QXC4;M0QXK5;M0R044;M0R0F2;M0R189;Q8N594 ABBA01056076;ABBA01056077;AC007292;AI927937;AK027887;AK308468;AMYH01009329;BC032652;BX462788;CH471139;NM_001159846;NM_032868 AAD24592;AAD24593;AAH32652;BAB55432;EAW69230;EAW69231;EAW69232;EAW69233;NP_001153318;NP_116257;Q8N594 Hs.321689 FLJ14981 MPN domain-containing protein protein-coding ENSG00000008382 25934 07873 VALIDATED 1603305 MPHOSPH8 M-phase phosphoprotein 8 13 13 13 q12.11 1269626 1309437 + 19105880 19144657 + 20207788 20247599 + 6480464 12477932;8885239;17081983;16583711;15489334;15057823;14702039;12559565;21419134;16344560;20871592;18029348;22022377;18654987;19471022;21890473;22086334 54737 H0Y6J1;Q99549 ABBA01068556;ABBA01068557;ABBA01068558;AJ293409;AK056785;AK092556;AK300258;AL354808;AL359457;AL832864;AMYH01004939;BC003542;BC017322;BC046214;CH471075;DA672302;NM_017520;R60056;X98259 AAH03542;AAH46214;BAB71284;BAG52572;BAH13245;CAA66912;CAI46172;EAX08228;EAX08229;EAX08230;NP_059990;Q99549 Hs.741282 1679940;1700628;1709030;1737389;1739253;1856424;2111011;2161641;2168832;2168834;2186481;5014019;5015861;5022322;5037552;5109281;7185938 A001U40;D10S16;D11S2560;D13S1119;D13S236E;D13S971;D1S1425;D5S2354;D8S2279;G19671;RH103936;RH66674;RH79712;SHGC-79586;STS-AA029981;STS-N29491 FLJ35237;HSMPP8;RP11-523H24.1;TWA3;mpp8 M-phase phosphoprotein 8;M-phase phosphoprotein, mpp;M-phase phosphoprotein, mpp8;OTTHUMP00000018074;two hybrid-associated protein 3 with RanBPM protein-coding ENSG00000196199 29810 13682 611626 VALIDATED 1344320 MPLKIP M-phase specific PLK1 interacting protein The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009] 7 7 7 p14.1 40160532 40162441 - 40138867 40140741 - 40172342 40174251 - 6480464;7240710 17310276;17081983;16977596;16964243;15645389;15489334;12690205;12477932;11829489;17207965;22939629 136647 A4D1W6;Q8TAP9 AACC02000039;ABBA01058154;AC006023;AK290098;AMYH01017194;AX048113;BC026265;BG501110;CH236951;CH471073;NG_016989;NG_023422;NM_138701 AAH26265;ADQ32251;BAF82787;EAL23999;EAW94134;NP_619646;Q8TAP9 Hs.654989 1661748 RH69674 ABHS;C7orf11;ORF20;TTDN1 M-phase-specific PLK1-interacting protein;OTTHUMP00000159010;Russell-Silver syndrome region;TTD non-photosensitive 1 protein APPROVED protein-coding ENSG00000168303 16002 12907 234050;609188 REVIEWED 1349436 MPI mannose phosphate isomerase Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. [provided by RefSeq, Jul 2008] 15 15 q22-qter 72969463 72977618 + 75182410 75190565 + 1600452;1580863;6480464;6907045;7240710 9525984 8307007;16488169;15489334;14702039;12477932;12414827;12357336;12122025;11350186;11134235;10980531;9585601;9451038;8125298;1222586;341373;21949237;17207965;18029348;20628624;21832049;22939629;21139048;21890473;20301507 4351 B4DYB8;F5GX71;H3BM77;H3BMZ9;H3BN01;H3BNY8;H3BP57;H3BPB8;H3BPM5;H3BPP3;H3BPU7;H3BQX0;H3BT46;H3BT48;H3BU66;H3BUG1;H3BUZ9;P34949 ABBA01060506;ABBA01060507;AC125435;AF227218;AF504648;AK096520;AK225149;AK292374;AK294030;AK301370;AK302354;AMYH01006796;BC017351;BC046357;BX648475;CH471136;NG_008921;NM_002435;X76057 AAF37697;AAH17351;AAH46357;AAM28199;ADQ33060;BAF85063;BAG57385;BAG62912;BAG63680;CAA53657;EAW99295;EAW99296;EAW99297;EAW99298;NP_002426;P34949 Hs.75694 1673330;1778452;2154016;2159656;2159925;2162321;2173805;2219942;5022651 D11S2921;D15S1167;MPI__6336;RH15703;RH69358;STS-X76057;WI-15741;WI-19219;WI-21454 CDG1B;FLJ39201;PMI;PMI1 OTTHUMP00000183487;mannose-6- phosphate isomerase;mannose-6-phosphate isomerase;phosphohexomutase;phosphomannose isomerase 1 APPROVED protein-coding ENSG00000178802 7216 01108 154550;602579 REVIEWED 733195 MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 q33.2 196261499 196315217 - 202217865 202271662 - 202509597 202563417 - 1580863;6480464 15914641;15558731;14702039;12477932;12384283;11586298;11414766;19807924;20379614;17286855 58538 E7ET46;E7EUL8;E9PG92;F6Q0Y6;F8WBH8;F8WDZ0;Q96JB8;R4GN59 AB053302;AB053303;AB053304;ABBA01062545;AC007279;AF316032;AK131208;AK298589;AK298947;AK300622;AMYH01011404;BC132785;BC144206;BM999928;BX647162;BX648531;CH471063;DQ426883;NG_012654;NM_033066 AAI32786;AAI44207;AAK71862;AAY15057;BAB69012;BAB69013;BAD18399;BAG60779;BAG61046;BAG62315;EAW70285;EAW70286;EAW70287;EAW70288;EAW70289;EAW70290;NP_149055;Q96JB8 Hs.63085 1668618;1684008;1686574;1728833;1789120;5021872;5022450;5037552 D10S275;D8S2279;G54443;G65696;RH79562;RH79761;STS-AA015930;sY3084 ALS2CR5;DLG6 MAGUK p55 subfamily member 4;OTTHUMP00000205919;OTTHUMP00000205920;OTTHUMP00000205933;OTTHUMP00000209441;OTTHUMP00000209442;OTTHUMP00000209443;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein;discs large homolog 6;discs, large homolog 6 APPROVED protein-coding ENSG00000082126 13680 07360 606575 REVIEWED 1343815 MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.31 38586168 38618558 - 39233693 39266064 - 41878167 41910547 - 1580863;6480464 8824795;12493773;16519681;16169070;13679854;12477932;11707406;16344560;17669239;23011156;21832049 4356 D3DX46;K7EPM7;Q13368 AB209232;ABBA01028399;ABBA01028400;AC003098;AK299535;AK309045;AK311368;AK313045;AM050144;AM050145;AMYH01008409;BC025743;BC035833;BC047017;BC056865;CH471178;DA585178;DA773958;DB357996;NM_001932;NR_003562;U37707 AAB36964;AAH47017;AAH56865;BAD92469;BAG35877;BAG61482;CAJ18313;CAJ18315;EAW51661;EAW51662;EAW51663;EAW51664;EAW51665;EAW51666;NP_001923;Q13368 Hs.396566 1789306;2146918;2174344;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;G67871;RH70618;SGC35657 DLG3 MAGUK p55 subfamily member 3;OTTHUMP00000165325;OTTHUMP00000165326;discs large homolog 3;discs, large homolog 3;membrane protein palmitoylated 3 APPROVED protein-coding ENSG00000161647 7221 03069 601114 REVIEWED 1346384 MPO myeloperoxidase Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of netrophils. [provided by RefSeq, Jul 2008] 17 17 q23.1 53702216 53713295 - 56347217 56358296 - 1358499;1580863;2317406;2317971;5130962;5130969;5130958;5130961;5130966;5130968;5130992;5130991;5130995;5130993;5130997;5130207;5130989;5130994;5130986;5130990;5131088;6480464;6484113;6909167;6909168;6909148;7174700;6909183;6909185;7174702;7174701;6909182;6909184;7174699;7174703;6909169;6909170;7174698;7174705;6909173;7174704;7240710 10742562;18205184;18436980;19483113;21071471;21470877;21226709;18424617;16883063;11269653;11577999;7841728;10917466;19491038;17643278;19544176;10731862;20954832;11798689;15718477;22950848;22739978;22986158;18022927;20722568;19793022;17267745;17896805;20950601;20638167;18055546;23085883;12694338;22356815;19549002;19238910;22092133;19418724 19237222;17017121;15492293;9354683;20043647;20305551;20413430;20201999;20364135;2829220;10777476;10801811;8621627;10772654;2903767;19651119;19593802;19556446;19543083;19505917;19490915;19479063;19423521;19420105;19410253;19345674;19339270;19322015;19255975;19255063;18214807;18177875;18042261;17980933;17925548;17922231;17885617;17875305;17869258;17855424;17767014;17726014;17704068;17701359;17650507;17613595;17601350;17595772;17582430;17549373;17521322;17483704;17479404;17451207;17440118;17438335;17428572;17424838;17381162;17355643;17337886;17304047;17259657;17209550;17178637;17161406;17159117;17149600;17145829;17119198;17042493;19162321;19147137;19140875;19129321;19126404;19081093;19059911;19031316;19030913;19012698;18977241;18930040;18854777;18836923;18784359;18778866;18676870;18676680;18667997;18662591;18642288;18636124;18632753;18617697;18505072;18466756;18452102;18447907;18441517;18440308;18435917;18359301;18344624;18340529;18331758;18322643;18314009;18296681;18280811;18273043;18271379;18258609;18237195;16956579;16901848;16844322;16829688;16758302;16740002;16732739;16641309;16606792;16543247;16504169;16497665;16484808;16476719;16430221;16385446;16335952;16326702;16297214;16289072;16267254;16221222;16195240;16170238;16157195;16148002;16107886;16084535;15996936;15967795;15911707;15901995;15894800;15885363;15884126;15850382;15829318;15734083;15714076;15705913;15661916;15600254;15538122;15536330;15507771;15507770;15507769;15507760;15507759;15507754;15507753;15507752;15504976;15379210;15350145;15331175;15304260;15299090;15255951;15222689;15203186;15199549;15196853;15184258;15159316;15108282;15068388;15031357;15023809;15006595;14972011;14761515;14730210;14729580;14716779;14668325;14646692;14626895;14617020;14580687;12969520;12952835;12950060;12946561;12915675;12861032;12818404;12810834;12800195;12792137;12782337;12773517;12729191;12707270;12606047;12565898;12515618;12496043;12496042;12460800;12432558;12397651;12393699;12355548;12209361;12164325;12135010;12111688;12089442;12057865;12052532;12027420;11986950;11981455;11960308;11943609;11895912;11861298;11840286;11813987;11811524;11794452;11774269;11705390;11434421;11423389;11179831;11161635;11147929;11090610;11087769;10828600;10766826;9637725;9175709;9097926;8718890;8530055;8390465;8383257;8142659;8078496;8037771;7904599;7840679;7809065;7530510;3654979;3031585;3029127;2884926;2820530;2552418;2444596;2154223;1703177;1334087;1320128;22126566;22659527;21699462;20301340;20636397;20064972;20651370;20673504;20646231;11907569;11956078;12477932;19138806;19170196;19201174;19362143;19423540;19524564;19538950;19578796;19589271;19608745;19614918;19622717;19625176;19626395;19641039;19646343;19651670;19692168;19726691;19729473;19729601;19731237;19735726;19752340;19758957;19761988;19788922;19789190;19814685;19816870;19822138;19828014;19857655;19857676;19877306;19878569;19897513;19902075;19916937;19963114;20007081;20026093;20032816;20080069;20091863;20136960;20146436;20158910;20228064;20237496;20332087;20406964;20418356;20437850;20438785;20536280;20364045;20332596;20399194;20933108;20732340;20592714;19913121;20485444;20568015;20598694;20628086;20643115;20644561;20663217;20673159;20677014;20714866;19995403;21126969;20951227;20974816;21461569;21292302;20974672;20848159;22802447;23537682;21204009;22949765;20360068;21779191;21407237;21540635;22097722;21327394;21657847;21795425;21176345;22014237;21674360;21856025;21880315;21884783;21917261;21934609;22145905;21827295;21880720;21967851;22094928;21950958;23583798;22427832;21739466;21907168;22140557;22219194;22352991;22264587;21792769;22985908;23306200;22465269;23342893;23167629;22912422;23066164;22331023;22703762;18051367;21331575;22355012;22902565;23532856;23535901 4353 J3QSF7;P05164 A08802;ABBA01041329;ABBA01041330;AC004687;AMYH01008512;BC130476;CH471109;D14466;DQ088846;FB659828;FB659830;J02694;M17176;M19507;M19508;NG_009629;NM_000250;S56200;X04876;X15377;X64647;Z37728 AAA59863;AAA59864;AAA59865;AAA59896;AAA60346;AAB25582;AAI30477;AAY68218;ADR83396;BAA03362;CAA00809;CAA28564;CAA28565;CAA33438;CAA45918;CAA85783;CAS01769;CAS01770;EAW94470;EAW94471;EAW94472;EAW94473;NP_000241;P05164 Hs.458272 1648192;1741201;1741371;1742099;1742299;1850553;1850815;2130142 D17S1716;D17S1975;GDB:178575;GDB:180938;GDB:191092;GDB:196134;RH45018;STS-M19507 myeloperoxidase APPROVED protein-coding ENSG00000005381 7218 06102 104300;254600;606989 REVIEWED 1344313 MPPE1P metallophosphoesterase 1 pseudogene 14 14 q31.3 88646202 88647320 - 89576452 89577567 - 386673;390501 ABBA01030520;AL137785;AMYH01005939;NG_022846 pseudo 20143 INFERRED 1344792 MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) Membrane-associated guanylate kinases (MAGUKs) are important adaptor proteins involved in the assembly of protein complexes at sites of cell-cell contact. They are found in synapses, adherens junctions, and tight junctions. All MAGUKs contain at least 1 PDZ domain, an SH3 domain, and a GUK domain, and many contain 1 or 2 L27 domains, which are involved in multimerization of MAGUKs. MPP7 belongs to the p55 stardust subfamily of MAGUKs, which is named for a Drosophila gene required for establishment of cell polarity in the developing fly embryo (Bohl et al., 2007 [PubMed 17237226]).[supplied by OMIM, Mar 2008] 10 10 10 p12.1 28103324 28334425 - 28379928 28611073 - 28339922 28571067 - 737633;6480464 12477932 17332497;17237226;14719143;14702039;16385451;19615732;20379614;20702775;21116278;22005930;21139048;21890473;21906983;16678097;22504420;23000965;23251661;22171069 143098 B3KQ45;B4DWL9;Q5T2T1 ABBA01034380;AK057360;AK130972;AK301592;AK315046;AL355501;AL390866;AL391423;AL832380;AMYH01002208;BC038105;CH471072;NM_173496 AAH38105;BAG37526;BAG51907;BAG63081;EAW86045;EAW86046;EAW86047;NP_775767;Q5T2T1 Hs.499159 1339894;1668834;1709324;1709376;1718155;1725307;2176677;5022786;5096037;7187443 D10S588;MPP7;RH118971;RH122845;SHGC-33447;SHGC-81652;SHGC-81705;STS-H72934;STS-H97962 FLJ32798;RP11-218D6.5 MAGUK p55 subfamily member 7;OTTHUMP00000019377;OTTHUMP00000019378 APPROVED protein-coding ENSG00000150054 26542 14733 610973 VALIDATED 1346408 MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008] 17 17 17 q12-q21 38660767 38693150 - 39308253 39340639 - 41952727 41985113 - 1580863;6480464 7590743;8824795;12493773;15489334;12477932;11230166;8125298;21145461;12351654;19665017;21139048;21900206;18239623;18067320 4355 D3DX48;E5RFN8;E5RI32;E5RI47;E5RIM9;E5RIU3;E5RJK0;E5RK44;E5RK50;E7EV80;E7EV91;E7EX01;Q14168 ABBA01028395;ABBA01028396;ABBA01028397;AC007993;AK223560;AK294564;AK295858;AK299286;AK299321;AK299518;AK302793;AK309048;AK311166;AL136554;AMYH01008409;BC030287;CH471178;CR936598;CR936730;DC302184;DC321822;DC333563;DC399913;NM_001278370;NM_001278371;NM_001278372;NM_001278373;NM_001278374;NM_001278375;NM_001278376;NM_001278381;NM_005374 AAH30287;ABM82603;ABM85788;BAD97280;BAG57760;BAG61302;BAG61329;BAG61470;BAG63996;BAH12204;CAB66489;CAI56746;EAW51653;EAW51654;EAW51655;EAW51656;NP_001265299;NP_001265300;NP_001265301;NP_001265302;NP_001265303;NP_001265304;NP_001265305;NP_001265310;NP_005365;Q14168 Hs.514208 1659168;1733482;1848942;2108265;2150432;2179322;2191215 D17S1249;MARC_16305-16306:1028219005:5;MPP2_8475;RH65833;RH67797;RH78315;WI-13789 DKFZp686A06252;DKFZp686J2189;DKFZp761D0712;DLG2 MAGUK p55 subfamily member 2;OTTHUMP00000165332;OTTHUMP00000165333;OTTHUMP00000227525;OTTHUMP00000227526;OTTHUMP00000227527;OTTHUMP00000227528;discs large homolog 2;discs large, homolog 2 APPROVED protein-coding ENSG00000108852 7220 02837 600723 VALIDATED 6480860 MPRIP-AS1 MPRIP antisense RNA 1 p11.2 100874529 BG548937 APPROVED miscrna 41263 1347904 MPP1 membrane protein, palmitoylated 1, 55kDa This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] X X q28 153660162 153686957 - 154006959 154033802 - 1580863;6480464 1310897;1713685;11256614;19144871;18952129;17584769;16741958;16189514;16169070;15489334;14702039;12477932;9305870;8824805;8125298;7822301;1301163;15952887;16344560;21509594;21139048;21900206;21903422;22496366;15123239;19738201;23263863;23446634;22505724 4354 A6NFY0;A8MTH1;B4E325;C9J9J4;C9JB34;F8WC84;F8WDV6;Q00013 ABBA01029082;ABBA01029083;ABBA01029084;ABBA01029085;ABBA01029086;AC109993;AK093702;AK223396;AK290246;AK303111;AK304538;AK310681;AK311541;AK312296;AK315957;AMYH01023319;AY423731;AY634686;BC002392;CH471172;DA074686;M64925;M87059;NG_015873;NM_001166460;NM_001166461;NM_001166462;NM_002436;U39611 AAA60059;AAA60060;AAD14835;AAH02392;AAS00494;AAV35469;ABM82173;ABM85498;BAD97116;BAF82935;BAG35223;BAG64217;BAG65337;BAH14328;EAW72655;EAW72656;EAW72657;EAW72658;EAW72659;EAW72660;NP_001159932;NP_001159933;NP_001159934;NP_002427;Q00013 Hs.496984 1723687;1734892;1795172;1798372;1800088;1804200;1804240;1805374;1810832;1815616;1816284;1816460;1816462;1816696;1818874;1820122;1820406;1821450;1825128;1826076;1828366;1831378;1832666;1835034;1835482;1835736;1837764;1838204;1842724;1843534;1845698;2039242;2039244;2039246;2039248;2039250;2039252;2039254;2039256;2039258;2039260;2039262;2039264;2039266;2039268;2039270;2039272;2039274;2039276;2039278;2039280;2039282;2039284;2039286;2039288;2039290;2039292;2039294;2039296;2039298;2039300;2039302;2039304;2039306;2039308;2039310;2039312;2039314;2039316;2039318;2039320;2039322;2039324;2039326;2039328;2039330;2039332;2039334;2039336;2039338;2039340;2039342;2039344;2039346;2039348;2039350;2039352;2039354;2039356;2039358;2039360;2039362;2039364;2039366;2039368;2039370;2039372;2039374;2039376;2039378;2039380;2039382;2039384;2039386;2039388;2039390;2039392;2039394;2039396;2039398;2039400;2039402;2039404;2039406;2039408;2039410;2039412;2039414;2039416;2039418;2039420;2039422;2039424;2039426;2039428;2039430;2039432;2039434;2039436;2039438;2039440;2039442;2039444;2039446;2039448;2039450;2039452;2039454;2039456;2039458;2039460;2039462;2039464;2039466;2039468;2039470;2039472;2039474;2039476;2039478;2039480;2039482;2039484;2039486;2039488;2039490;2039492;2039494;2039496;2039498;2102910;2102912;2102914;2102916;2102918;2102920;2102922;2102924;2102926;2102928;2102930;2102932;2102934;2102936;2102938;2102940;2102942;2102944;2102946;2142609;2180454;2182496;2183528;2219944 D1S1800E;DXS7022E;DXS9740;ECD00022;ECD00900;ECD03021;ECD03044;ECD03634;ECD06414;ECD08845;ECD09184;ECD09272;ECD09273;ECD09391;ECD10501;ECD11134;ECD11278;ECD11809;ECD13665;ECD14147;ECD15309;ECD16825;ECD17474;ECD18670;ECD18897;ECD19028;ECD20052;ECD20274;ECD22569;ECD22976;ECD24067;HSC269_(M1);MPP1__6146;REN90642;REN90643;REN90644;REN90645;REN90646;REN90647;REN90648;REN90649;REN90650;REN90651;REN90652;REN90653;REN90654;REN90655;REN90656;REN90657;REN90658;REN90659;REN90660;REN90661;REN90662;REN90663;REN90664;REN90665;REN90666;REN90667;REN90668;REN90669;REN90670;REN90671;REN90672;REN90673;REN90674;REN90675;REN90676;REN90677;REN90678;REN90679;REN90680;REN90681;REN90682;REN90683;REN90684;REN90685;REN90686;REN90687;REN90688;REN90689;REN90690;REN90691;REN90692;REN90693;REN90694;REN90695;REN90696;REN90697;REN90698;REN90699;REN90700;REN90701;REN90702;REN90703;REN90704;REN90705;REN90706;REN90707;REN90708;REN90709;REN90710;REN90711;REN90712;REN90713;REN90714;REN90715;REN90716;REN90717;REN90718;REN90719;REN90720;REN90721;REN90722;REN90723;REN90724;REN90725;REN90726;REN90727;REN90728;REN90729;REN90730;REN90731;REN90732;REN90733;REN90734;REN90735;REN90736;REN90737;REN90738;REN90739;REN90740;REN90741;REN90742;REN90743;REN90744;REN90745;REN90746;REN90747;REN90748;REN90749;REN90750;REN90751;REN90752;REN90753;REN90754;REN90755;REN90756;REN90757;REN90758;REN90759;REN90760;REN90761;REN90762;REN90763;REN90764;REN90765;REN90766;REN90767;REN90768;REN90769;REN90770;RH123086;STS-M64925;UniSTS:68640;stSG604287;stSG604288;stSG604289;stSG604291;stSG604292;stSG604293;stSG604294;stSG604295;stSG604296;stSG604297;stSG604298;stSG604299;stSG604300;stSG604301;stSG604302;stSG604303;stSG604304;stSG604305;stSG604306 AAG12;DXS552;DXS552E;EMP55;MRG1;PEMP 55 kDa erythrocyte membrane protein;OTTHUMP00000026054;OTTHUMP00000196176;aging-associated gene 12;erythrocyte membrane protein p55;migration-related gene 1;p55;palmitoylated erythrocyte membrane protein APPROVED protein-coding ENSG00000130830 7219 02370 305360 REVIEWED 7175173 MPRIPP1 myosin phosphatase Rho interacting protein pseudogene 1 3 44619222 44622562 - 100421374 ABBA01024740;AC099669;AMYH01013120;NG_025573 1696890;2167598 G16017;d01504sbk pseudo 44594 INFERRED 1323497 MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008] 7 7 7 p15 24601884 24715973 + 24579610 24694023 + 24613085 24727498 + 1580863;6480464 11311936;16192290;15592455;15489334;15231747;15024025;12853948;12690205;12477932;11812149;11719186;11230166;11110791;10753959;23000965;23453885;21903422;19071123;21139048;21890473;22745667 51678 B8ZZG1;C9J4Q3;C9JGI8;F8WCD2;Q9NZW5;R4GNA8 AACC02000007;ABBA01056725;AC005084;AF162130;AL136836;AMYH01017118;BC012034;BC023638;CH236948;CH471073;NM_016447 AAD45919;AAH23638;AAQ96847;ABM83221;ABM86421;CAB66770;EAL24247;EAW93808;EAW93809;EAW93810;EAW93811;NP_057531;Q9NZW5 Hs.533355 1774126;1846937;2140185;2165836;2191585;5491754 D7S1786;G17167;GDB:1318172;GDB:4585051;MARC_26730-26731:1037208705:1;MPP6 PALS2;VAM-1;VAM1;p55T MAGUK p55 subfamily member 6;MAGUK protein p55T;OTTHUMP00000158586;OTTHUMP00000202002;OTTHUMP00000202005;OTTHUMP00000202006;OTTHUMP00000202007;VELI-associated MAGUK 1;protein associated with Lin7 2 APPROVED protein-coding 18167 09509 606959 PROVISIONAL 7244110 MPTX1 mucosal pentraxin 1 (pseudogene) 6480464 17903293 649458 A8MV57 ABBA01016620;AL513323;AMYH01001444;CH471121;NG_027744 A8MV57;EAW52790 MPTX pseudo 48364 INFERRED 1317631 MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 14 14 q23.3 66777774 66872289 + 67708012 67802778 + 1580863;6480464 9110174;11256614;18029348;17920587;16678097;16381901;15914641;15863617;15558731;15489336;15489334;15475968;14702039;12771187;12545177;12527193;12477932;11927608;11311936;11230166;11076863;10753959;22337881;8619474;16737952;17584769;19615732;20237282;20833712;20861307;21479189;17332497;22114289;22102253;16344560;21139048;22797925 64398 G3V2B0;G3V2H1;Q658X5;Q8N3R9 ABBA01023713;ABBA01023714;ABBA01023715;ABBA01023716;ABBA01023717;AF131764;AI245706;AK022677;AK098373;AK291240;AL135978;AL139785;AL832326;AL832578;AL832936;AMYH01005812;BC037966;BC053366;BC095485;BC129933;CH471061;DA095710;DR003886;NM_001256550;NM_022474 AAH53366;AAH95485;AAI29934;BAB14172;BAC05295;BAF83929;CAD38620;CAD89937;CAH56281;CAL37477;CAL37737;EAW80930;NP_001243479;NP_071919;Q8N3R9 Hs.652312;Hs.740524 1669630;1700866;1718575;1752057;1777429;1848508;2149796;2168438;2175202 A004Z21;C013YC9;G35782;RH104059;RH122492;RH46030;RH69567;SHGC-106011;WI-18606 FLJ12615;PALS1 MAGUK p55 subfamily member 5;OTTHUMP00000245540;OTTHUMP00000245542;protein associated with lin seven 1;stardust APPROVED protein-coding ENSG00000072415 18669 09508 606958 VALIDATED 1319383 MPPE1 metallophosphoesterase 1 18 18 18 p11.21 11764340 11789530 - 11873470 11898641 - 11883470 11908796 - 6480464 19328558;16344560;15252450;14702039;12477932;11978971;8125298;19837036;19859903;21890473 65258 K7EIQ0;K7EJU0;K7ELZ7;K7EM03;K7EQ70;K7EQ74;K7EQV4;K7ER13;K7ERI3;K7ES91;K7ESB8;Q6GMP1 ABBA01074002;ABBA01074003;ABBA01074004;AF289560;AF363483;AF363484;AK021647;AK023052;AK054639;AK223450;AK309948;AL833636;AMYH01008819;AP001269;AW663162;BC002877;BC073994;BG701552;CH471113;CR738004;DA581276;DB035278;DQ786245;EF444996;NM_001242904;NM_023075;NR_040241;NR_040242;NR_040243 AAH02877;AAH73994;AAL55744;AAM00277;AAM00278;AAM00279;ACA06017;ACA06018;ACA06019;BAB13863;BAB14378;BAD97170;BAG51403;EAX01561;EAX01562;EAX01563;EAX01564;EAX01565;EAX01566;EAX01567;EAX01568;EAX01569;EAX01570;EAX01571;EAX01572;NP_001229833;NP_075563;Q53F39 Hs.712666;Hs.734268 1857931;2132125;2152345;2154956;2159945;2176621;5020948 D18S1193;D18S982;G35510;RH68711;STS-N37055;WI-15313;WI-20459 PGAP5 OTTHUMP00000162437;OTTHUMP00000162438;OTTHUMP00000162439;metallo phosphoesterase;metallophosphoesterase 1;post-GPI attachment to proteins factor 5 protein-coding ENSG00000154889 15988 14734 611900 VALIDATED 1317908 MPPED1 metallophosphoesterase domain containing 1 22 22 22 q13.31 27718460 27814182 + 42229853 42234129 + 43808020 43902800 + 6480464 16344560;15489334;15461802;12477932;10591208;9266672;8666403;21145461;20379614;17043677;21900206;22779921 758 B1AH62;B1AH63;B4DS06;B7Z2S9;F5H6C9;O15442 ABBA01014576;ABBA01017902;ABBA01017903;AK289774;AK290541;AK294912;AK295077;AK297276;AK299516;AK299531;AK316008;AL049708;AL096759;AL096761;AMYH01012828;AMYH01012829;AMYH01012830;BC028035;BX546033;BX890592;CH471138;CR377231;CT841512;CU137653;DA773758;FP325334;NM_001044370;U84894;Z82172 AAC51673;AAH28035;BAF82463;BAF83230;BAG57999;BAG59748;BAG61468;BAG61479;BAH11965;BAH14379;CAJ86442;CAK54643;CAK54942;CAQ06857;CAQ08182;CAQ10809;EAW73305;EAW73306;EAW73307;NP_001037835;O15442 Hs.159538 1338018;1680194;1779023;2125379;5109381;7187923 AL022547;D22S1015E;D22S282;D22S679;WI-16313 239AB;C22orf1;FAM1A;FLJ50009;FLJ54633;FLJ59965;FLJ78907;MGC88045 OTTHUMP00000197847;adult brain protein 239;chromosome 22 open reading frame 1;metallophosphoesterase domain-containing protein 1 protein-coding ENSG00000186732 1306 03663 602112 VALIDATED 1347972 MPPED2 metallophosphoesterase domain containing 2 This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 11 11 11 p13 30552446 30754292 - 30388347 30558616 - 30406040 30607930 - 6480464 7527372;19240061;16344560;15489334;12477932;9266672;8889549;8666403;22797727;20379614;17207965;21824479;22262177;21940522;22479191 744 E9PQW8;F2Z346;Q15777 AA020012;AA916486;AB209163;ABBA01060934;ABBA01060935;AK309809;AK314833;AL136088;AL353699;AL356240;AMYH01003469;BC031582;CH471064;DB214603;NM_001145399;NM_001584;U57911 AAC50564;AAH31582;ADQ31648;BAD92400;EAW68256;EAW68257;NP_001138871;NP_001575;Q15777 Hs.289795 1654897;1688293;1738049;1755161 D11S1145;D11S3668;RH27776;SHGC-142084 239FB;C11orf8 OTTHUMP00000232053;OTTHUMP00000232054;fetal brain protein 239;metallophosphoesterase MPPED2;metallophosphoesterase domain-containing protein 2 APPROVED protein-coding ENSG00000066382 1180 02947 600911 REVIEWED 1606418 MPV17L MPV17 mitochondrial membrane protein-like 16 16 16 p13.11 15170072 15184012 + 15397137 15411044 + 15489611 15503543 + 6480464 16631601;16341674;14702039;12477932;21832049;19322201 255027 H3BT45;Q2QL34 ABBA01048888;ABBA01048889;AC137803;AC140504;AK096918;AK293380;AMYH01007182;BC061514;BM838624;CH471226;DQ004255;DQ004256;NM_001128423;NM_173803 AAH61514;AAY58892;AAY58893;BAC04895;BAG56892;EAW53914;EAW53915;NP_001121895;NP_776164;Q2QL34 Hs.720673 5015404;5021228;5022200;5024413;5037552 D8S2279;GDB:312794;L17705;L17877;L18426 FLJ39599;M-LPH;MGC70356;MLPH1;MLPH2;MPV17L1 M-LP homolog;M-LPH;Mpv17-like protein type 1;Mpv17-like protein type 2;OTTHUMP00000160326;mpv17-like protein protein-coding ENSG00000156968 26827 08803 VALIDATED 1603190 MPV17L2 MPV17 mitochondrial membrane protein-like 2 19 19 19 p13.11 18205777 18209289 + 18165040 18168552 + 18304040 18307552 + 6480464 14702039;12477932;20877624;21139048;21833088 84769 M0QYH5;Q567V2 ABBA01051251;AC068499;AF320622;AF416712;AK094091;AMYH01009586;BC005064;BC028146;BC093008;BG740168;CH471106;NM_032683 AAH05064;AAH93008;AAL16806;AAL30173;BAG52814;EAW84667;EAW84668;EAW84669;EAW84670;EAW84671;NP_116072;Q567V2 Hs.515254 1853032;2146064 STS-H95222;WI-22566 FKSG24;MGC110861;MGC12972 OTTHUMP00000230510;OTTHUMP00000237907;mpv17-like protein 2 protein-coding ENSG00000254858 28177 13324 VALIDATED 735977 MPST mercaptopyruvate sulfurtransferase This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 21217038 21227199 + 35745648 35755809 + 37415683 37425863 + 1580863;6480464;6907045 9070219;18029348;16545926;15489334;15461802;14702039;12477932;10591208;1953758;19615732;19695240;20877624;22939629;20446008;21906983;22505724 4357 B1AH49;J3KPV7;P25325;Q6FHN9 AB208824;ABBA01055459;AK055733;AMYH01012753;AW778940;BC003508;BC009450;BC016737;BC018717;BI463699;BI597227;BQ072744;BT019636;BX406051;CH471095;CR456523;CR541712;CX866643;CX872464;DB450861;DQ211531;DQ211532;DQ211533;NM_001013436;NM_001130517;NM_021126;X59434;Z73420 AAH03508;AAH16737;AAH18717;AAV38442;ABB16334;ABB16335;ABB16336;BAD92061;BAG51564;CAA42060;CAG30409;CAG46513;CAK54554;CAK54853;EAW60133;EAW60134;EAW60135;NP_001013454;NP_001123989;NP_066949;P25325 Hs.248267 1676584;2173014;5016781;5022578;5037552 D1S1423;D8S2279;RH68552;RH75971;SHGC-67307 MGC24539;MST;TST2 3-mercaptopyruvate sulfurtransferase;OTTHUMP00000197786;OTTHUMP00000197787;OTTHUMP00000197788;OTTHUMP00000197789;OTTHUMP00000197791;human liver rhodanese APPROVED protein-coding ENSG00000128309 7223 11896 602496 REVIEWED 736941 MPRIP myosin phosphatase Rho interacting protein 17 17 17 p11.2 17885731 18028474 + 16886832 17029599 + 16946074 17095962 + 6480464 17353931;18636174;17081983;16257966;15545284;15489334;15469989;15324660;14702039;14506264;12477932;10048485;8889548;9199174;15778465;22349701;16243315;21441570;21242312;21163940;15161933;20360068;21078624;21890473;21906983;20473970;16751776;17620599;20368287;21963094;21988832;23000965;23251661;23382691;23398456;20876399 23164 A8MZF8;H0Y2S9;H0Y7E2;H7C3G6;J3KSK7;J3KSW8;J3QL44;J3QRL2;K7EJ14;K7EL39;Q6WCQ1;Q8N236 AB020671;AB098507;AB189741;AB362572;AB362573;ABBA01009768;ABBA01009769;AC055811;AC079111;AJ844625;AK025229;AK025604;AK026035;AK091337;AK092287;AL834513;AMYH01008155;AY296247;BC009982;BC012426;BC014102;BC021058;BC021070;BC030255;BC050323;BC063588;BC075847;BC105987;BC136479;BE048871;BU527795;CF126021;CH471196;D23673;DQ582316;NM_015134;NM_201274 AAH09982;AAH12426;AAH75847;AAI05988;AAI36480;AAQ63176;BAA74887;BAC03851;BAC78198;BAD89507;BAF81537;BAF81538;CAD39169;CAH59751;EAW55721;EAW55722;EAW55723;EAW55724;NP_055949;NP_958431;Q6WCQ1 Hs.462341 1341038;1666670;1667355;1696890;1856474;2117423;2136974;2160114;2163945;2167598;5015619;5020401;5022578;5024039;5037552;5115311;5124007 A004R11;AF021130;D11S3114;D16S325;D17S1280;D17S732;D17S740;D1S1423;D8S2279;G16017;RH24996;RH65251;RH78418;SHGC-33713;STS-D29495;STS-H00647;d01504sbk KIAA0864;M-RIP;MRIP;RHOIP3;RIP3;p116Rip OTTHUMP00000065508;OTTHUMP00000065509;myosin phosphatase Rho-interacting protein;myosin phosphatase-Rho interacting protein;rho-interacting protein 3 protein-coding ENSG00000133030 30321 17591 612935 VALIDATED 1353525 MPV17 MpV17 mitochondrial inner membrane protein This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008] 2 2 p23.3 27385864 27399473 - 27532360 27545969 - 1580863;6480464;7240710 12477932;16582910;19012992;18695062;18329934;18261905;17694548;16909392;16631601;16582907;15815621;15489334;14702039;20843780;12471025;8427063;8281143;7564095;19520594;20074988;20877624;22939629;22306510;7957077;20178365;22593919 4358 A8MPV4;A8MTD3;AAB25210;B5MC10;B5MC53;B5MCF8;C9J473;E7EX18;F8WEL3;G5E9F5;H0Y6M5;H0Y7B6;P39210 ABBA01045201;ABBA01045202;AC013413;AF038633;AF088036;AK093305;AK123373;AMYH01010195;BC001115;BC016289;BG714998;BI602840;CH471053;CQ868548;HQ205986;HQ205987;HQ205988;HQ205989;HQ205990;HQ205991;HQ205992;HQ205993;HQ205994;HQ205995;HQ205996;HQ205997;HQ205998;HQ205999;HQ206000;HQ206001;HQ206002;HQ206003;HQ206004;HQ206005;HQ206006;HQ206007;HQ206008;HQ206009;HQ206010;HQ206011;HQ206012;HQ206013;HQ206014;HQ206015;HQ206016;HQ206017;HQ206018;HQ206019;HQ206020;HQ206021;HQ206022;HQ206023;HQ206024;HQ206025;NG_008075;NM_002437;S68430;X76538 AAB25210;AAC24205;AAD14014;AAH01115;AAH16289;AAY24298;ABM83205;ABM86405;ADP91854;ADP91855;ADP91856;ADP91857;ADP91858;ADP91859;ADP91860;ADP91861;ADP91862;ADP91863;ADP91864;ADP91865;ADP91866;ADP91867;ADP91868;ADP91869;ADP91870;ADP91871;ADP91872;ADP91873;ADP91874;ADP91875;ADP91876;ADP91877;ADP91878;ADP91879;ADP91880;ADP91881;ADP91882;ADP91883;ADP91884;ADP91885;ADP91886;ADP91887;ADP91888;ADP91889;ADP91890;ADP91891;ADP91892;ADP91893;CAA54047;CAH33966;EAX00597;EAX00598;EAX00599;EAX00600;EAX00601;EAX00602;EAX00603;EAX00604;NP_002428;P39210 Hs.75659 1648785;1664646;1767837;2149877;5109281;5491513 D1S1425;G19419;MARC_16687-16688:1017861800:1;RH70909;STS-X76538;WI-18702 MTDPS6;SYM1 Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome;OTTHUMP00000122591;OTTHUMP00000122592;OTTHUMP00000201076;OTTHUMP00000201077;OTTHUMP00000201081;OTTHUMP00000201082;OTTHUMP00000201084;OTTHUMP00000201085;mpv17 transgene, murine homolog, glomerulosclerosis;protein Mpv17 APPROVED protein-coding ENSG00000115204 7224 08847 137960;256810 REVIEWED 737128 MPZ myelin protein zero This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010] 1 1 q23.3 159541151 159546377 - 161274525 161279762 - 1358504;1358513;1580863;6480464;7240710 11801400;11080237 17602703;16856127;12845552;8816708;7693129;7506095;7693130;19293842;19259128;18663734;18422810;18337304;18209201;17940173;17825553;17663472;17143884;17142269;17030746;16775239;16543539;16488608;16414078;16398147;16344560;16279991;16198109;16162811;15729519;15596778;15555916;15489334;15326256;15261887;15249646;15241803;15184631;15159512;15050444;15036333;14638973;12953275;12948789;12940837;12911457;22622165;22490868;22734905;12497641;12477932;12477701;12402337;12221176;12211648;12207932;11835375;11673479;11545686;11445635;11438991;11437164;10965800;10923043;10737979;10553995;10406984;10329755;10214757;10212299;10071056;9888385;9633821;9595994;9222756;9217235;9187667;8990016;8844219;8835320;8630052;7762451;7694726;7688964;7550231;7530550;7530295;7527371;7518101;7511317;7509228;7505151;7504284;7503936;6099985;3467805;1719967;8797476;8664899;20544920;14711881;15094849;16169070;19475438;19882637;19906531;19928689;19950375;20215982;7514564;22222859;20456450;20516806;20301384;20461396;20621479;20556410;21503568;22704856;21179557;21107784;22243284;21787890;21971831;22275255;21988832;23197742;22457349;22018721;22433810;20301462;20301641;22589738;22633464;23279346 4359 E7EWP3;E9PL80;P25189 ABBA01016592;ABBA01016593;AK313555;AL592295;AMYH01001457;BC006491;BF509916;BT006765;CD515400;CD515605;CH471121;D10537;D14720;DB210759;L24893;NG_008055;NM_000530;S66705;U10018;Z31718 AAA18981;AAA20656;AAB28708;AAH06491;AAP35411;ABM86811;ABW03829;BAA01395;BAA03540;BAG36330;CAA83513;EAW52605;EAW52606;NP_000521;P25189 Hs.591486 1671631;1744401;1744403;1744761;1744763;1744765;1744767;1744769;2135222;2217622 AL009353;G15925;GDB:453314;GDB:453316;GDB:567202;GDB:567206;GDB:567212;GDB:567216;GDB:567273;MPZ_930 CHM;CMT1;CMT1B;CMT2I;CMT2J;CMT4E;CMTDI3;CMTDID;DSS;HMSNIB;MPP;P0 Charcot-Marie-Tooth neuropathy 1B;OTTHUMP00000032235;OTTHUMP00000228408;myelin peripheral protein;myelin protein P0;myelin protein zero;myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) APPROVED protein-coding ENSG00000158887 7225 01159 118200;145900;159440;180800;605253;607677;607736;607791 REVIEWED 1316244 MPZL2 myelin protein zero-like 2 Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q24 115282009 115293130 - 117629344 117640219 - 118124131 118135251 - 1580863;6480464 9585423;15489334;12477932;12975309;17207965;16344560;21440040 10205 O60487 ABBA01039714;AF030455;AF275945;AF304447;AK290326;AMYH01004067;AP002800;AW073724;AY359061;BC017774;CH471065;DA163069;NM_005797;NM_144765 AAC39762;AAF87240;AAG23183;AAH17774;AAQ89420;ADQ32240;BAF83015;EAW67358;EAW67359;NP_005788;NP_658911;O60487 Hs.116651 1686224;1698514;1795798;2116132;2180513 EVA1_11;RH102807;RH16323;RH99291;SHGC-57446 EVA;EVA1 OTTHUMP00000234557;OTTHUMP00000234558;epithelial V-like antigen 1;myelin protein zero-like protein 2 APPROVED protein-coding ENSG00000149573 3496 05340 604873 REVIEWED 1343564 MR1 major histocompatibility complex, class I-related 1 1 q25.3 179269762 179291256 + 181002561 181031074 + 1580863;6480464;7240710 7624800;19416870;18068122;12794138;12477932;11019920;9784382;9780177;9325151;8125298;14702039;19706888;19760593;20237496;23051753;21190736;21777569;10708443;22412157;22692454;23457030 3140 Q9TQB3;Q9TQB9 ABBA01027785;ABBA01027786;AF010446;AF010447;AF031469;AF039526;AF223407;AJ249778;AK056155;AK222910;AK290374;AK304645;AL356267;AMYH01001543;BC012485;CH471067;DC297418;NM_001194999;NM_001195000;NM_001195035;NM_001531;U22963 AAC50174;AAD01442;AAD01443;AAD01933;AAD02172;AAF40170;AAH12485;BAD96630;BAF83063;BAG65423;CAB77667;EAW91095;EAW91096;EAW91097;EAW91098;NP_001181928;NP_001181929;NP_001181964;NP_001522;Q95460 Hs.13500 1700856;1701662;2149421;5016781;5020274;5020740;5020988;5021228;5021872;5022576;5022578;5024761;5118877 D11S3745;D1S1361;D1S1423;D22S958;GDB:312794;L17809;L18441;RH104054;RH104488;RH36905;SHGC-35563;SHGC-67307;sY3084 FLJ31593;HLALS MHC class I-like antigen MR-1;MHC class I-related gene protein;MHC class-I related-gene protein;OTTHUMP00000033129;OTTHUMP00000033130;OTTHUMP00000033131;class I histocompatibility antigen-like protein;major histocompatibility complex class I-related gene protein;major histocompatibility complex, class I-like sequence protein-coding ENSG00000153029 4975 09012 118800;600764 VALIDATED 1601712 MPZL3 myelin protein zero-like 3 11 11 11 q23.3 115258214 115280889 - 117605546 117628221 - 118100336 118123011 - 6480464 19054061;17273165;15489334;15340161;14702039;12975309;12477932;21982860;23400010 196264 B4DLD5;B4E2I8;E9PPB1;Q6UWV2 ABBA01039714;AK095399;AK289390;AK296951;AK304292;AK310966;AMYH01004067;AP002800;AY358626;BC008810;BC031223;BC113586;BC143897;CH471065;NM_198275 AAI13587;AAI43898;AAQ88989;ADR83356;BAF82079;BAG53045;BAG59497;BAG65150;EAW67357;NP_938016;Q6UWV2 Hs.15396 1340696;1698514;1733746;1795798;2127973;5037552;7184042 D11S1341;D11S2086;D8S2279;EVA1_11;RH102807;RH67851 OTTHUMP00000234553;OTTHUMP00000234555;myelin protein zero-like protein 3 protein-coding 27279 14114 611707 PROVISIONAL 1603024 MRAP melanocortin 2 receptor accessory protein This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009] 21 21 q22.1 32585995 32608966 + 33664124 33687095 + 5144214;6480464;7240710 20654690 19329486;18981183;18818285;18077336;17893271;17456795;15654338;15489334;12036298;12477932;12054497;22419722;19558534;19903795;20427498;21195128;20494980;21862608;21951701;22366472;23418361 56246 Q8TCY5 ABBA01057312;ABBA01057313;AF454915;AF454916;AF483549;AMYH01012199;AP000266;AY079152;BC062721;CH471079;NG_016234;NM_178817;NM_206898 AAH62721;AAL51048;AAL51049;AAL80042;AAL86908;ADR82710;EAX09878;EAX09879;EAX09880;NP_848932;NP_996781;Q8TCY5 Hs.584940 1335774;1338223;1656879;1678761;1730640;1730881;1759847 D21S313;D21S404;D8S1718;D8S285;SHGC-170086;SHGC-6834;SHGC-87585 B27;C21orf61;FALP;FGD2;GCCD2 OTTHUMP00000107700;fat cell-specific low molecular weight protein;fat tissue-specific low MW protein;melanocortin-2 receptor accessory protein APPROVED protein-coding ENSG00000170262 1304 10758 607398;609196 REVIEWED 1343477 MPZL1 myelin protein zero-like 1 1 1 q24.2 165957832 166026684 + 167691187 167761156 + 1580863;6480464 9792637;10681522;19064610;18568953;16710414;16702974;16344560;16303743;15588985;15489334;15231747;12975309;12684038;12477932;12410637;12107410;12075424;11751924;17207965;19536175;20379614;19629567;21987572;19322201;21139048;21890473;21906983;22881374 9019 A8K5D4;F8WFC4;O95297;Q9UEL6 ABBA01047241;ABBA01047242;AF087020;AF092424;AF092425;AF095726;AF095727;AF181660;AF239756;AF478447;AF478448;AI635633;AK024700;AK075334;AK291249;AK297112;AK307250;AK315546;AL035302;AL035308;AL356532;AMYH01001484;AW292498;AY359019;BC000984;BC007881;BC019890;BE616859;BF528837;BT019542;BU155202;CA397666;CD556632;CD557072;CH471067;CR542160;DA725074;NM_001146191;NM_003953;NM_024569;Z99943 AAC72231;AAD55346;AAD55347;AAF00083;AAF00084;AAF00621;AAF63499;AAH07881;AAH19890;AAO14645;AAO14646;AAO14647;AAQ89378;AAV38349;ADQ31838;BAB14967;BAF83938;BAG37924;BAH12501;CAA22907;CAA22913;CAG46957;EAW90800;EAW90801;EAW90802;EAW90803;NP_001139663;NP_003944;NP_078845;O95297 Hs.493919 1337552;1655864;1709018;1734920;2107401;2130906;2133337;2151497;2167855;2177653;2219088 A007A43;D1S1795E;D1S1803E;D1S2750;FLJ21047_2474;MPZL1__7200;RH12295;RH36145;SHGC-75878;SHGC-79577;WI-12092 FLJ21047;MPZL1b;PZR;PZR1b;PZRa;PZRb OTTHUMP00000032519;OTTHUMP00000032521;OTTHUMP00000201770;OTTHUMP00000201812;immunoglobulin family transmembrane protein;myelin protein zero-like protein 1;protein zero related;protein zero-related protein-coding ENSG00000197965 7226 05086 604376 VALIDATED 1347395 MRE11B MRE11 meiotic recombination 11 homolog B (S. cerevisiae) 3 3 3 q25 154251517 154254262 - 157313117 157314766 - 155828380 155832238 - 9931460;11371508;9651580;8530104 4362 ABBA01058840;AC091607;AC125607;AF307006;AMYH01013598;NG_001157 hMRE11B pseudo 7231 INFERRED 1320449 MRAP2 melanocortin 2 receptor accessory protein 2 6 6 6 q14.2 85176774 85233960 + 84800139 84857325 + 84743420 84800606 + 5144214;6480464 20654690 19329486;21832049;18029348;22419722;18981183;15654338;15489334;14702039;14574404;12477932;20371771;17207965;23869016;21367968;23418361 112609 Q96G30 ABBA01040461;AJ420596;AK090775;AK292736;AK307078;AL161621;AMYH01016472;BC010003;BC039855;BU629097;CH471051;NM_138409 AAH10003;AAH39855;ADQ32102;BAC03517;BAF85425;EAW48646;NP_612418;Q96G30 Hs.370055 1661264;1720963 G59311;STS-AA039481 C6orf117;RP11-51G5.2;bA51G5.2 OTTHUMP00000016804;melanocortin-2 receptor accessory protein 2 protein-coding ENSG00000135324 21232 12843 VALIDATED 1345928 MRC1L1 mannose receptor, C type 1-like 1 This gene encodes a type I membrane receptor protein highly related to the mannose receptor C type 1 protein (MRC1). The two genes are located near each other on chromosome 10 in a region thought to represent a segmental duplication. [provided by RefSeq] 10 10 p12.33 17891368 17993184 + 17851362 17953178 + 6907045 18029348;12477932;20139978 414308 AL139238;AL928580;BC142642;BC146838;BX255924;CR601686;NM_001009567 AAI42643;AAI46839;CAH70872;CAH71176;CAI15339;NP_001009567;Q5VSK2 Hs.461247 1796338 MRC1_1326 CLEC13DL;bA541I19.1 C-type lectin domain family 13 member D-like;macrophage mannose receptor 1-like protein 1 protein-coding 23403 17588 REVIEWED 1319655 MRC1 mannose receptor, C type 1 The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Apr 2011] 10 10 p12.33 18138358 18240097 + 18098352 18200091 + 1580863;6480464;6907045 3611070;2373685;18029348;1294118;19224860;18353434;18279703;17502612;17360361;17020928;16203868;16000387;15767290;15190005;15155616;15042510;14568928;12477932;12368450;11841552;11715017;11120831;10779515;9677318;9038177;8940052;8001982;22393309;2258707;1730714;17077296;16672549;16547227;15955449;15047828;16615932;15637102;20139978;16385451;19196802;19403625;19772890;19902202;20035344;20554962;20610655;21029423;19197942;19683778;21331365;21416197;23345393;22289891;22132194;21943158;22392581;22314623;11752456;23148569;22967244;21628571;21922073;22842622 4360 P22897;Q0Z8D6 ABBA01034548;ABBA01034549;ABBA01034550;ABBA01034551;AC069023;AK297044;AK308132;AK308167;AL139238;AL928580;AL928729;AMYH01002079;AMYH01002080;AMYH01002081;AMYH01002082;AMYH01002083;AMYH01002084;AMYH01002085;AMYH01002086;AMYH01002087;AMYH01002088;AMYH01002089;AMYH01002090;AMYH01002091;AMYH01002092;AMYH01002093;AMYH01002094;AMYH01002095;AMYH01002096;AMYH01002097;AMYH01002098;AMYH01002099;AMYH01002100;AMYH01002101;AMYH01002102;AMYH01002103;AMYH01002104;AMYH01002105;AMYH01002106;AMYH01002107;AMYH01002108;AMYH01002109;AMYH01002110;AMYH01002111;AMYH01002112;AMYH01002113;AMYH01002114;AMYH01002115;AMYH01002116;AMYH01002117;AMYH01002118;AMYH01002119;AMYH01002120;AMYH01002121;AMYH01002122;AMYH01002123;AMYH01002124;AMYH01002125;AMYH01002126;AMYH01002127;AMYH01002128;AMYH01002129;AMYH01002130;AMYH01002131;AMYH01002132;AMYH01002133;AMYH01002134;AMYH01002135;AMYH01002136;AMYH01002137;AMYH01002138;AMYH01002139;AMYH01002140;AMYH01002141;AMYH01002142;AMYH01002143;AMYH01002144;AMYH01002145;AMYH01002146;AMYH01002147;AMYH01002148;AMYH01002149;AMYH01002150;AMYH01002151;AMYH01002152;AMYH01002153;AMYH01002154;AV659122;BC016003;BC142642;BC146838;BU198859;BX255924;DC296466;DQ663787;EF444997;J05550;M93192;M93193;M93194;M93195;M93196;M93197;M93198;M93199;M93200;M93201;M93202;M93203;M93204;M93205;M93206;M93207;M93208;M93209;M93210;M93211;M93212;M93213;M93214;M93215;M93216;M93217;M93218;M93219;M93220;M93221;NM_002438;X55635;XM_003959927;XM_003959928 AAA59868;AAA60389;AAI42643;AAI46839;ABG47462;ACA06020;BAG59571;CAH70733;CAH71176;CAI15339;NP_002429;P22897;XP_003959976;XP_003959977 Hs.743903;Hs.75182 1646228;1724277;1796338;1849174;2129990;2139515;2152410;2186934 D10S2285;MRC1_1326;RH11113;RH11114;RH11193;RH121281;STS-J05550;STS-U10408 CD206;CLEC13D;CLEC13DL;MGC181940;MMR;MRC1L1;bA541I19.1 C-type lectin domain family 13 member D;C-type lectin domain family 13 member D-like;OTTHUMP00000019243;OTTHUMP00000019245;macrophage mannose receptor 1;macrophage mannose receptor 1-like protein 1;mannose receptor, C type 1-like 1 APPROVED protein-coding ENSG00000120586;ENSG00000183748 7228 01089 153618 VALIDATED 1320297 MRC2 mannose receptor, C type 2 This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012] 17 17 q23.2 58058494 58124685 + 60704762 60770962 + 1580863;6480464;6907045 17974964;17189524;14702039;14684825;12972549;12952933;12668656;12645947;12477932;12399458;12244146;12068012;11903048;11120831;10683150;10636902;9734811;8702911;16547227;15955449;15047828;16615932;19861500;19584075;20339555;20845060;21768090;17043677;22072289;9192860;21139048;21906983;17360361;19224860;22132194 9902 E7EME3;J3KRF1;J3QQZ6;Q9UBG0 AB014609;ABBA01035342;ABBA01035343;AC080038;AF107292;AF134838;AI458446;AK093230;AMYH01008547;AY429551;BC032763;BC146647;BC150212;BC153884;BX111813;CH471109;NM_006039;U58856 AAC51365;AAD30280;AAF14192;AAI46648;AAI50213;AAI53885;BAA31684;BAG52674;EAW94341;EAW94342;NP_006030;Q9UBG0 Hs.7835 1342045;1688176;1851177;1853129;2107403;2184130;2191549 D17S1283;D17S1835;MARC_26180-26181:1030714398:1;MRC2_7204;RH12891;RH47836;RH80967 CD280;CLEC13E;ENDO180;FLJ35911;KIAA0709;UPARAP C-type lectin domain family 13 member E;C-type mannose receptor 2;UPAR-associated protein;endocytic receptor (macrophage mannose receptor family);endocytic receptor 180;macrophage mannose receptor 2;urokinase plasminogen activator receptor-associated protein;urokinase receptor-associated protein;urokinase-type plasminogen activator receptor-associated protein APPROVED protein-coding ENSG00000011028 16875 10094 612264 REVIEWED 1344076 MRGPRD MAS-related GPR, member D 11 11 11 q13.3 66087241 66088206 - 68504066 68505031 - 68747490 68748455 - 737883;6480464 12909716 15037633;12044878;11551509;18636314;23446738 116512 Q8TDS7 AB065786;AB083627;AB154410;ABBA01023972;ABBA01023973;AMYH01003770;AP000808;AY427820;NM_198923 AAI46428;AAI56661;AAR05120;BAB89340;BAC06005;BAD20638;NP_944605;Q8TDS7 Hs.527802 2107405;5492791 MRGPRD__7297;UniSTS:482596 MRGD;TGR7 G-protein coupled receptor TGR7;OTTHUMP00000237205;beta-alanine receptor;mas-related G protein-coupled MRGD;mas-related G-protein coupled receptor member D protein-coding ENSG00000172938 29626 06250 607231 VALIDATED 1604338 MREG melanoregulin 2 2 2 q35 210576874 210647909 - 216515559 216586591 - 216807314 216878346 - 6480464 15550542;14702039;12477932;20463177;17207965;21139048;21906983 55686 C9JAG4;C9JFU1;C9JYV9;Q8N565 ABBA01062801;ABBA01062802;ABBA01062803;ABBA01062804;ABBA01062805;ABBA01062806;AC010686;AC093382;AF068290;AK000978;AMYH01011488;BC032747;BC082990;BQ928130;CA843296;CH471063;CX781801;NM_018000 AAF65179;AAH32747;AAH82990;AAY14656;AAY14719;ADQ32619;BAA91453;EAW70554;EAW70555;EAW70556;NP_060470;Q8N565 Hs.620391;Hs.714977 1336655;1774308;1847822;1848116;2143909;2172865;5015619;5015961;5016596;5037552;7187042 D11S3114;D15S1477;D2S137;D8S2279;GDB:631802;RH16400;RH16678;RH47987;SHGC-33908;WI-17547 DSU;FLJ10116;MGC90296;WDT2 OTTHUMP00000206792;OTTHUMP00000206794;OTTHUMP00000206795;OTTHUMP00000206796;dilute suppressor protein homolog;melanoregulin;whn-dependent transcript 2 protein-coding 25478 07645 609207 VALIDATED 733433 MRAS muscle RAS oncogene homolog This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 3 3 q22.3 139549315 139607067 + 138066490 138124377 + 1580863;6480464;6907045 10477695;10934204;10446149;9395237;19198612;18628988;17538012;17143285;15489334;15031288;14702039;12477932;12138204;11857081;11524421;10803462;10498616;9400994;20738937;20971364;21378990;16630891;15146197;16344560;21139048 22808 C9J601;C9J8Q6;O14807;Q6FGP0;Q8WVM9 ABBA01059093;ABBA01059094;AC022337;AC022497;AF022080;AF043938;AF493918;AI216578;AK056337;AK091633;AK123833;AK124954;AK295640;AK316071;AMYH01013531;BC017733;BC035939;BC047101;BC047690;BI488489;BI546150;BT020057;CH471052;CN356600;CR542067;DA235195;DA355883;NM_001085049;NM_001252090;NM_001252091;NM_001252092;NM_001252093;NM_012219 AAC52085;AAD02287;AAH17733;AAI56846;AAM12632;AAV38860;BAG54117;BAG58512;BAH14442;CAG46864;EAW79068;EAW79069;EAW79070;EAW79071;NP_001078518;NP_001239019;NP_001239020;NP_001239021;NP_001239022;NP_036351;O14807 Hs.527021;Hs.735125 1689737;1784690;2108831;2168634;2178142;5037552 D8S2279;MRAS_9272;RH80075;SHGC-146113;WI-19950;WIAF-1636 FLJ42964;M-RAs;R-RAS3;RRAS3 OTTHUMP00000216882;OTTHUMP00000216883;OTTHUMP00000216884;OTTHUMP00000216886;OTTHUMP00000216887;ras-related protein M-Ras;ras-related protein R-Ras3 APPROVED protein-coding ENSG00000158186 7227 06662 608435 REVIEWED 1351155 MRGPRG MAS-related GPR, member G 11 11 11 p15.4 3274767 3275638 - 3195750 3198081 - 3239174 3240043 - 6480464 15164054;12679517 386746 Q86SM5 ABBA01032067;AC109309;AMYH01003327;AY255583;NM_001164377 AAO85095;NP_001157849;Q86SM5 Hs.730306 GPR169;MRGG G protein-coupled receptor 169;G protein-coupled receptor MRGG;G-protein coupled receptor 169;OTTHUMP00000013407;mas-related G-protein coupled receptor member G protein-coding ENSG00000182170 24829 607234 PROVISIONAL 1606988 MRFAP1 Morf4 family associated protein 1 This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 4 4 4 p16.1 6544106 6546110 + 6693346 6695350 + 6642445 6644449 + 6480464 11500496;14506250;17353931;17008723;14702039;12477932;12397079;16407074;20108251;17573780;20639865;21900206;15342556;16344560;20562209;21873567;22038470;21139048;21890473;21906983;22505724 93621 B3KQA0;Q9Y605 AA486335;ABBA01012726;AC093323;AF116272;AK057736;AK074496;AK123360;AK129651;AK300242;AK303974;AL539167;AMYH01013918;BC022797;BG255189;BI858568;BP309093;CB052459;CH471131;CR457144;DA253671;HY038123;NM_001272053;NM_001272054;NM_033296 AAD38498;AAH22797;ABM83719;ABM87039;BAG51962;BAG53894;BAG62009;BAG64895;CAG33425;EAW82386;EAW82387;NP_001258982;NP_001258983;NP_150638;Q9Y605 Hs.727355 1657555;1680489;1733436;2114156;2128347;2153833;2182458;5092610 A005A19;DXS6765;G32212;SHGC-24755;SHGC-59176;SHGC-59806;SHGC-67772;SHGC-68198 PAM14;PGR1 MORF4 family-associated protein 1;Mof4 family associated protein 1;OTTHUMP00000155159;OTTHUMP00000217761;OTTHUMP00000217763;T-cell activation protein;protein associated with MRG of 14 kDa;protein associated with MRG, 14 kDa APPROVED protein-coding ENSG00000179010 24549 17589 REVIEWED 1346995 MRGPRF MAS-related GPR, member F 11 11 11 q13.3 66111592 66120578 - 68771862 68780850 - 68771862 68780850 - 737633;1580863;6480464 12477932 16303743;15489334;15342556;14702039;11551509;11181995;2109324 116535 F5H5R4;Q96AM1 AA936120;AB065785;ABBA01023972;AC019124;AK075450;AK075492;AK098317;AK122669;AK131068;AK293469;AL049451;AMYH01003770;AP003071;BC016964;BP376260;CH471076;CS051435;NM_001098515;NM_145015 AAH16964;BAC05284;BAC11628;BAC11649;BAC45261;BAG53655;BAG56962;CAI72211;EAW74730;EAW74731;EAW74732;NP_001091985;NP_659452;Q96AM1 Hs.118513;Hs.602397 1851957 STS-AA037714 DKFZp586B2122;FLJ16111;FLJ29034;FLJ40998;FLJ53714;GPR140;GPR168;MGC21621;MRGF;RTA G protein-coupled receptor 140;G protein-coupled receptor 168;G protein-coupled receptor MrgF;G-protein coupled receptor 140;G-protein coupled receptor 168;OTTHUMP00000237206;mas-related G protein-coupled MRGF;mas-related G-protein coupled receptor member F;mas-related gene F protein;seven transmembrane helix receptor protein-coding ENSG00000172935 24828 607233 VALIDATED 1605595 MRFAP1L1 Morf4 family associated protein 1-like 1 4 4 4 p16.1 6611437 6613614 - 6760329 6762505 - 6709428 6711606 - 6480464 16189514;12477932;17207965;21139048;21906983;22505724 114932 Q96HT8 ABBA01012727;AC093323;AF155654;AF258591;AK312676;AMYH01013918;BC008087;BC066897;BX397546;CH471131;NM_203462;W79582 AAF67011;AAG23794;AAH08087;AAH66897;ADQ32432;BAG35557;EAW82383;NP_982287;Q96HT8 Hs.593159 1674180;1689037;1854267;2135124 D4S3171;RH18354;SHGC-50677;SHGC-67331 MGC9651;PP784 MORF4 family-associated protein 1-like 1;OTTHUMP00000155162 protein-coding ENSG00000178988 28796 15162 VALIDATED 1344886 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 11 11 q21 93790114 93866688 - 94150466 94227040 - 1580863;1578504;2317733;2317740;2317737;2317721;2317736;2317734;2300250;2317738;2317722;6480464;6907045;7240710 16498454;18638378;11850399;15048091;19383352;17034947;15337312;14511253;15319296;15574463 15790808;15723659;15653682;15489334;15456891;15302935;15269180;15234984;15195510;15180989;15047855;15026416;14702039;14690447;14684699;14657032;12660252;12607005;12607003;12477932;12419185;12124628;11877377;11371508;11371344;11238951;11196167;11060040;10888888;10783165;10612394;10608806;10508516;10426999;8756642;11504724;18458108;12679336;14519663;15100233;11353843;15806145;15758953;9651580;10802669;9590181;9705271;8530104;9931460;18029348;19351817;19244322;19197236;19064565;19124506;18950845;19064572;18830935;18829552;18652530;18632984;18596698;18553220;18469862;18373977;18285453;18256278;18234271;18177684;18040525;18025084;17932350;17898048;17715134;17700070;17694070;17693401;17591703;17534377;17526493;17477953;17349953;17202845;17169801;17081983;16948520;16905549;16788144;16431910;16417627;16327781;16254336;16163361;16051665;15970667;15937485;15864295;22447567;22586326;22863007;17500065;21324166;21565612;12447395;15149599;15917200;18212065;19270065;19573080;19584272;19586055;19609304;19615732;19633668;19638463;19690177;19744924;19773279;19862546;19910469;19917125;19950226;20003485;20010693;20164540;20496165;20522537;20224574;19714462;20087742;20682289;20843819;18710941;19394292;20647759;20610542;20813000;20956948;21325134;21227757;15201865;15916964;19151086;22863883;23046361;22939629;22914783;18716619;21300766;20070254;21252943;17612497;16196087;21699368;21816818;19471022;22179609;15383534;16391231;18781797;19244116;21693764;21880556;21139048;21884979;21890473;22078559;21623170;22231403;21849470;22464731;15734743;18583988;21963094;23000965;23089312;23115235;23318449;23390603;23530059;22740413;22833675;22412018;23398456;23455922;23525106 4361 B3KTC7;F5GXT0;F5H256;F5H742;F8W7U8;P49959;Q05D78 ABBA01040029;ABBA01040030;AF022778;AF073362;AF303395;AK095388;AK308318;AMYH01003965;AP000765;AP000786;AY584241;BC005241;BC017823;BC063458;BF574168;BT006730;CH471065;NG_007261;NM_005590;NM_005591;U37359 AAC36249;AAC78721;AAD10197;AAH05241;AAH17823;AAH63458;AAK18790;AAP35376;AAS79320;ADZ15505;BAG53039;EAW66930;EAW66931;EAW66932;EAW66933;EAW66934;NP_005581;NP_005582;P49959 Hs.192649 1737879;1771867;1788090;1788092;1788094;1788096;1788098;1788100;1788102;1788104;1792172;1855374;2178064 D11S1058;D11S3482;G67219;G67220;G67296;G67297;G67298;G67299;G67300;G67301;MRE11;PMC138375P1;WI-17886 ATLD;HNGS1;MRE11;MRE11B AT-like disease;DNA recombination and repair protein;MRE11 homolog 1;MRE11 homolog A;OTTHUMP00000236830;OTTHUMP00000236831;OTTHUMP00000236832;OTTHUMP00000236833;double-strand break repair protein MRE11A;endo/exonuclease Mre11;meiotic recombination 11 homolog 1;meiotic recombination 11 homolog A APPROVED protein-coding 7230 02889 600814;604391 REVIEWED 1344531 MRGPRE MAS-related GPR, member E 11 11 11 p15.4 3284634 3289260 - 3205617 3210192 - 3249041 3253616 - 6480464 15489334;12679517;12477932;11551509;23412934 116534 J3KQB9;Q86SM8 ABBA01110157;AC109309;AK293940;AMYH01003327;AY255572;BC104889;BC112203;CH471158;DC309261;NM_001039165 AAI04890;AAI12204;AAO85084;ADR82927;BAG57317;EAX02547;NP_001034254;Q86SM8 Hs.745512 5493211 UniSTS:485316 GPR167;MGC138408;MRGE G protein-coupled receptor 167;G-protein coupled receptor 167;OTTHUMP00000013406;mas-related G protein-coupled MRGE;mas-related G-protein coupled receptor member E protein-coding ENSG00000184350 30694 607232 VALIDATED 1318486 MRGBP MRG/MORF4L binding protein 20 20 20 q13.33 58103435 58107575 + 60898283 60902390 + 61427805 61431945 + 6480464 19553677;20332121;15647280;15489334;14702039;12963728;12477932;11780052;19322201;16230350;18029348;20051959;16407074;18218781;17573780;21535316;21602893;18654987;21139048;22467210 55257 A8C4L5;Q9NV56 AB085682;ABBA01021370;AK001776;AL035669;AMYH01012060;AMYH01012061;BC009889;BC014235;BC018841;CH471077;CS348926;NM_018270 AAH09889;AAH14235;AAH18841;ADZ15968;BAA91902;BAF80630;CAL23011;EAW75342;EAW75343;NP_060740;Q9NV56 Hs.590870 1699010 RH103076 C20orf20;Eaf7;FLJ10914;MRG15BP;URCC4 MRG(MORF4-related gene)-binding protein;MRG-binding protein;MRG/MORF4L-binding protein;OTTHUMP00000031512 APPROVED protein-coding ENSG00000101189 15866 16646 611157 VALIDATED 1601706 MRGPRG-AS1 MRGPRG antisense RNA 1 11 11 11 p15.4 3275157 3279954 + 3199519 3200408 + 3239562 3244361 + 6480464 15489334;14702039;12477932 283303 Q2M3A8 ABBA01032067;AC109309;AK093421;AK097749;AMYH01003327;AY422795;BC104971;BC104973;CH471158;NR_027138 AAR84193;BAC04158;BAC05159;EAX02545;EAX02546;Q2M3A8 Hs.151154 1336021;5493231 D11S1923;UniSTS:485412 C11orf36;FLJ36102;HSD-40;MGC132631;MGC132633 APPROVED miscrna ENSG00000236301 26691 08770 VALIDATED 1605552 MRGPRX1 MAS-related GPR, member X1 11 11 11 p15.1 19087796 19088985 - 18911936 18913125 - 18955360 18956549 - 6480464 15489334;12477932;12044878;11850634;11551509;15782186;23074220 259249 Q96LB2 AB065846;AB083628;ABBA01061041;AC023078;AF474989;AF474990;AMYH01003431;AY042213;BC096835;CH471064;EU883578;NM_147199 AAH96835;AAK91804;AAL86880;AAL86881;ACG60652;BAB89341;BAC06064;EAW68360;NP_671732;Q96LB2 Hs.711459 1737973;1852321;2219946 D11S2376;D11S3578;MRGX1__6155 GPCR;MRGX1;SNSR4 G protein-coupled receptor MRGX1;G protein-coupled receptor SNSR3;OTTHUMP00000222450;mas-related G-protein coupled receptor member X1;sensory neuron-specific G-protein coupled receptor 3/4 protein-coding ENSG00000170255 17962 06246 607227 PROVISIONAL 1603279 MRGPRX3 MAS-related GPR, member X3 This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009] 11 11 11 p15.1 18274798 18292323 + 18099078 18116603 + 18142502 18160027 + 6480464 12477932;15809047;15489334;11850634;11551509;16284629 117195 E9PPY5;Q96LB0 ABBA01061060;AC090099;AF474987;AF474988;AMYH01003419;AY042215;BC067292;CH471064;EU432126;NM_054031 AAH67292;AAK91806;AAL86878;AAL86879;ABY87925;EAW68417;NP_473372;Q96LB0 Hs.380177 GPCR;MRGX3;SNSR1;SNSR2 G protein-coupled receptor MRGX3;G protein-coupled receptor SNSR1;G protein-coupled receptor SNSR2;OTTHUMP00000232887;mas-related G-protein coupled receptor member X3;mas-related GPCR member X3;sensory neuron-specific G-protein coupled receptor 1/2 APPROVED protein-coding ENSG00000179826 17980 06248 607229 REVIEWED 1603280 MRGPRX2 MAS-related GPR, member X2 11 11 11 p15.1 19208469 19214692 - 19032578 19038804 - 19076002 19082228 - 6480464 12915402;18636314;15862286;15489334;12477932;12044878;11551509;22069323 117194 Q4QXX6 AB065811;AB083626;ABBA01061039;AC027026;AMYH01003431;AY042214;AY651130;AY651131;AY651132;AY651133;AY651134;AY651135;AY651136;AY651137;AY651138;AY651139;AY651140;AY651141;AY651142;AY651143;AY651144;AY651145;AY651146;AY651147;AY651148;AY651149;AY651150;AY651151;AY651152;AY651153;AY651154;AY651155;AY651156;AY651157;AY651158;AY651159;AY651160;AY651161;AY845175;AY845176;BC063450;CH471064;EU883579;NM_054030 AAH63450;AAK91805;AAW70043;AAW70044;AAW70045;AAW70046;AAW70047;AAW70048;AAW70049;AAW70050;AAW70051;AAW70052;AAW70053;AAW70054;AAW70055;AAW70056;AAW70057;AAW70058;AAW70059;AAW70060;AAW70061;AAW70062;AAW70063;AAW70064;AAW70065;AAW70066;AAW70067;AAW70068;AAW70069;AAW70070;AAW70071;AAW70072;AAW70073;AAW70074;AAW70082;AAW70083;ACE86644;ACE87326;ACG60653;BAB89339;BAC06030;EAW68359;NP_473371;Q96LB1 Hs.350566 MRGX2 G protein-coupled receptor MRGX2;OTTHUMP00000231889;mas-related G-protein coupled receptor member X2 protein-coding ENSG00000183695 17983 06247 607228 PROVISIONAL 1603278 MRGPRX4 MAS-related GPR, member X4 11 11 11 p15.1 18326688 18328131 + 18150960 18152401 + 18194384 18195827 + 12477932;11850634;11551509;15489334;20379614 117196 Q96LA9 ABBA01061060;AC090099;AF474991;AF474992;AMYH01003419;AY042216;BC095509;BC107099;BC107100;CH471064;CN835944;NM_054032 AAH95509;AAI07100;AAI07101;AAK91807;AAL86882;AAL86883;EAW68416;NP_473373;Q96LA9 Hs.632138 2107407;5493067 MRGX4__7298;UniSTS:484086 GPCR;MGC129753;MGC129754;MRGX4;SNSR6 G protein-coupled receptor MRGX4;G protein-coupled receptor SNSR5;G protein-coupled receptor SNSR6;OTTHUMP00000232903;mas-related G-protein coupled receptor member X4;sensory neuron-specific G-protein coupled receptor 5/6 protein-coding ENSG00000179817 17617 06249 607230 VALIDATED 7205138 MROH4P maestro heat-like repeat family member 4, pseudogene 101154686 AC139676;NG_033034 pseudo 44902 INFERRED 1604271 MRI1 methylthioribose-1-phosphate isomerase 1 19 19 19 p13.2 13769122 13778884 + 13736337 13746096 + 13875337 13885096 + 6480464;6907045 16189514;16381901;15489336;15231748;15215245;12975309;12477932;11256614;11230166;11076863;19447967;17207965;22939629;23124037;21139048;19620624;21963094;21853274 84245 K7EM59;Q9BV20 ABBA01029722;ABBA01029723;AC008686;AF318324;AL834276;AMYH01009511;AY358176;BC001703;BM147362;CH471106;NM_001031727;NM_032285 AAH01703;AAL55831;AAQ88543;ACE86908;ACE87595;ADQ32721;CAD38951;CAL37494;CAL38102;EAW84369;EAW84370;EAW84371;NP_001026897;NP_115661;Q9BV20 Hs.439370 1848706;1857670;2157596;5014051;5015861;5015879;5015881;5015961;5016596;5020414;5037552;7185938 A007D32;D10S16;D15S1477;D19S1134;D8S2278;D8S2279;GDB:314949;GDB:335751;GDB:631802;L17688;RH78312 MGC3207;MRDI;MTNA;Ypr118w M1Pi;MTR-1-P isomerase;S-methyl-5-thioribose-1-phosphate isomerase;S-methyl-5-thioribose-1-phosphate isomerase 1;mediator of RhoA-dependent invasion;methylthioribose-1-phosphate isomerase;methylthioribose-1-phosphate isomerase homolog;translation initiation factor eIF-2B subunit alpha/beta/delta-like protein APPROVED protein-coding ENSG00000037757 28469 14548 615105 VALIDATED 1342837 MRO maestro This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 q21 45178236 45208500 - 46578572 46600366 - 48321490 48351754 - 737633;1580863;6480464 12477932 14702039;16344560;15489334;12889070;11401430;17207965 83876 E9PAT5;K7EKJ8;K7EKU2;K7ELT8;K7EPK7;Q9BYG7 AB042647;ABBA01018674;ABBA01018675;ABBA01018676;ABBA01018677;AC015864;AI479272;AI829586;AK054702;AK294757;AK295666;AL705398;AMYH01008999;BC029860;CH471096;DA416200;DB473056;DC333169;DC403805;NM_001127174;NM_001127175;NM_001127176;NM_031939 AAH29860;ADQ31893;BAB40981;BAB70797;BAH11871;BAH12148;EAW62978;EAW62979;NP_001120646;NP_001120647;NP_001120648;NP_114145;Q9BYG7 Hs.30495 1665279;5015861;5037552;7185938 D10S16;D8S2279;WI-14766 B29;C18orf3;FLJ30140 OTTHUMP00000163544;beside the Ma29 deletion;male-specific transcription in the developing reproductive organs;protein maestro APPROVED protein-coding 24121 16276 608080 REVIEWED 1605341 MRM1 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 17 17 17 q12 31780302 31787679 + 32032138 32039520 + 34958025 34965407 + 6480464 15489334;14702039;12477932;17207965;16712791;8125298;20877624;20186120;21900206 79922 K7EJT9;Q6IN84 ABBA01012428;AC003042;AK026231;AK225449;AK292307;AMYH01008361;BC009416;BC072411;CB137408;CH471199;CR457357;NM_024864 AAH09416;AAH72411;ADQ32009;BAB15401;BAF84996;CAG33638;EAW57571;EAW57572;NP_079140;Q6IN84 Hs.194864 2120713;2160516 RH78009;STS-T49181 FLJ22578 mitochondrial large ribosomal RNA ribose methylase;rRNA methyltransferase 1, mitochondrial protein-coding ENSG00000129282 26202 08656 VALIDATED 2302189 MROH2A maestro heat-like repeat family member 2A 2 2 2 q37.1 228407684 228462484 + 234351715 234406808 + 234684376 234742069 + 6480464 12477932;20379614;21646302;17567994 339766 A6NES4;C9IYW5;F8VUA0 ABBA01001950;ABBA01001951;AC005538;AC006985;AMYH01011580;AMYH01011581;BC042133;CH471063;DQ655967;DQ655968;DQ655969;XM_001721240;XM_003960312;XM_291007 A6NES4;AAH42133;EAW71063;XP_001721292;XP_003960361;XP_291007 Hs.361778;Hs.736887 1649276;1800572;1804414;1804512;1804628;1804716;1804798;1805134;1805406;1805890;1806280;1806902;1807178;1807572;1808274;1808758;1808904;1809186;1809906;1810568;1811092;1812312;1813480;1818314;1818512;1821878;1821978;1822192;1822392;1822924;1823700;1824442;1826454;1826808;1827918;1828706;1829016;1829076;1830860;1831128;1831390;1834126;1838768;1840902;1841168;1842062;1842344;1843604;1844108;1844776;1845412;1846422;1949748;1949750;1949752;1949754;1949756;1949758;1949760;1949762;1949764;1949766;1949768;1949770;1949772;1949774;1949776;1949778;1949780;1949782;1949784;1949786;1949788;1949790;1949792;1949794;1949796;1949798;1949800;1949802;1949804;1949806;1949808;1949810;1949812;1949814;1949816;1949818;1949820;1949822;1949824;1949826;1949828;1949830;1949832;1949834;1949836;1949838;1949840;1949842;1949844;1949846;1949848;1949850;1949852;1949854;1949856;1949858;1949860;1949862;1949864;1949866;1949868;1949870;1949872;1949874;1949876;1949878;1949880;1949882;1949884;1949886;1949888;1949890;1949892;1949894;1949896;1949898;1949900;1949902;1949904;1949906;1949908;1949910;1949912;1949914;1949916;1949918;1949920;1949922;1949924;1949926;1949928;1949930;1949932;1949934;1949936;1949938;1949940;1949942;1949944;1949946;1949948;1949950;1949952;1949954;1949956;1949958;1949960;1949962;1949964;1949966;1949968;1949970;1949972;1949974;1949976;1949978;1949980;1949982;1949984;1949986;1949988;1949990;1949992;1949994;1949996;1949998;1950000;1950002;1950004;1950006;1950008;1950010;1950012;1950014;1950016;1950018;1950020;1950022;1950024;1950026;1950028;1950030;1950032;1950034;1950036;1950038;1950040;1950042;1950044;1950046;1950048;1950050;1950052;1950054;1950056;1950058;1950060;1950062;1950064;1950066;1950068;1950070;1950072;1950074;1950076;1950078;1950080;1950082;1950084;1950086;1950088;1950090;1950092;1950094;1950096;1950098;1950100;1950102;1950104;1950106;1950108;1950110;1950112;1950114;1950116;1950118;1950120;1950122;1950124;1950126;1950128;1950130;1950132;1950134;1950136;1950138;1950140;1950142;1950144;1950146;1950148;1950150;1950152;1950154;1950156;1950158;1950160;1950162;1950164;1950166;1950168;1950170;1950172;1950174;1950176;1950178;1950180;1950182;1950184;1950186;1950188;1950190;1950192;1950194;1950196;1950198;2201406;2201408;2201410;2201412;2201414;2201416;2201418;2201420;2201422;2201424;2201426;2201428;2201430;2201432;2201434;2201436;2201438;2201440;2201442;2201444;2201446;2201448;2201450;2201452;2201454;2201456;2201458;2201460;2201462;2201464;2201466;2201468;2201470;2201472;2201474;2201476;2201478;2201480;2201482;2201484 ECD01147;ECD03131;ECD03185;ECD03246;ECD03290;ECD03332;ECD03509;ECD03650;ECD03898;ECD04095;ECD04416;ECD04555;ECD04758;ECD05118;ECD05362;ECD05435;ECD05583;ECD05945;ECD06277;ECD06544;ECD07163;ECD07761;ECD10214;ECD10318;ECD12025;ECD12075;ECD12182;ECD12284;ECD12550;ECD12942;ECD13319;ECD14341;ECD14519;ECD15082;ECD15480;ECD15635;ECD15665;ECD16566;ECD16700;ECD16831;ECD18211;ECD20562;ECD21644;ECD21778;ECD22234;ECD22375;ECD23012;ECD23267;ECD23604;ECD23923;ECD24431;G09577;REN45722;REN45723;REN45724;REN45725;REN45726;REN45727;REN45728;REN45729;REN45730;REN45731;REN45732;REN45733;REN45734;REN45735;REN45736;REN45737;REN45738;REN45739;REN45740;REN45741;REN45742;REN45743;REN45744;REN45745;REN45746;REN45747;REN45748;REN45749;REN45750;REN45751;REN45752;REN45753;REN45754;REN45755;REN45756;REN45757;REN45758;REN45759;REN45760;REN45761;REN45762;REN45763;REN45764;REN45765;REN45766;REN45767;REN45768;REN45769;REN45770;REN45771;REN45772;REN45773;REN45774;REN45775;REN45776;REN45777;REN45778;REN45779;REN45780;REN45781;REN45782;REN45783;REN45784;REN45785;REN45786;REN45787;REN45788;REN45789;REN45790;REN45791;REN45792;REN45793;REN45794;REN45795;REN45796;REN45797;REN45798;REN45799;REN45800;REN45801;REN45802;REN45803;REN45804;REN45805;REN45806;REN45807;REN45808;REN45809;REN45810;REN45811;REN45812;REN45813;REN45814;REN45815;REN45816;REN45817;REN45818;REN45819;REN45820;REN45821;REN45822;REN45823;REN45824;REN45825;REN45826;REN45827;REN45828;REN45829;REN45830;REN45831;REN45832;REN45833;REN45834;REN45835;REN45836;REN45837;REN45838;REN45839;REN45840;REN45841;REN45842;REN45843;REN45844;REN45845;REN45846;REN45847;REN45848;REN45849;REN45850;REN45851;REN45852;REN45853;REN45854;REN45855;REN45856;REN45857;REN45858;REN45859;REN45860;REN45861;REN45862;REN45863;REN45864;REN45865;REN45866;REN45867;REN45868;REN45869;REN45870;REN45871;REN45872;REN45873;REN45874;REN45875;REN45876;REN45877;REN45878;REN45879;REN45880;REN45881;REN45882;REN45883;REN45884;REN45885;REN45886;REN45887;REN45888;REN45889;REN45890;REN45891;REN45892;REN45893;REN45894;REN45895;REN45896;REN45897;REN45898;REN45899;REN45900;REN45901;REN45902;REN45903;REN45904;REN45905;REN45906;REN45907;REN45908;REN45909;REN45910;REN45911;REN45912;REN45913;REN45914;REN45915;REN45916;REN45917;REN45918;REN45919;REN45920;REN45921;REN45922;REN45923;REN45924;REN45925;REN45926;REN45927;REN45928;REN45929;REN45930;REN45931;REN45932;REN45933;REN45934;REN45935;REN45936;REN45937;REN45938;REN45939;REN45940;REN45941;REN45942;REN45943;REN45944;REN45945;REN45946;REN45947;stSG620151;stSG620152;stSG620153;stSG620154;stSG620155;stSG620157;stSG620158;stSG620159;stSG620160;stSG620161;stSG620162;stSG620163;stSG620164;stSG620165;stSG620166;stSG620167;stSG620168;stSG620169;stSG620170;stSG620171;stSG620172;stSG620173;stSG620174;stSG620175;stSG620176;stSG620177;stSG620178;stSG620179;stSG620180;stSG620181;stSG620182;stSG620183;stSG620184;stSG620185;stSG620186;stSG620187;stSG620188;stSG620189;stSG620190;stSG620191 HEATR7B1 HEAT repeat containing 7B1;HEAT repeat-containing protein 7B1;OTTHUMP00000065067;maestro heat-like repeat-containing protein family member 2A APPROVED protein-coding ENSG00000185038 27936 MODEL 1604530 MROH2B maestro heat-like repeat family member 2B 5 5 5 p13.1 40886706 40960038 - 41033879 41107201 - 40998122 41071444 - 6480464 19221116;14702039;12477932;20379614;22939629 133558 B3KXY2;F5GZ06;Q4G0Z6;Q7Z745 ABBA01024227;ABBA01024228;AC114967;AF432068;AK097562;AK126005;AK128183;AL832763;AMYH01015049;BC026008;BC034600;BC044937;BC052962;BF979306;CH471119;CR749346;HC006994;NM_173489 AAH34600;AAH52962;AAP97306;BAC05103;BAG54275;BAG54644;CAH18199;CBH19302;EAW56009;EAW56010;EAW56011;NP_775760;Q7Z745 Hs.97714 1298299;1657475;2174496 D5S1457;D5S2506;D5S2856 DKFZp781F0822;FLJ40243;HEATR7B2 HEAT repeat family member 7B2;HEAT repeat family member B2;HEAT repeat-containing protein 7B2;OTTHUMP00000221404;OTTHUMP00000236773;maestro heat-like repeat-containing protein family member 2B APPROVED protein-coding ENSG00000171495 26857 08808 VALIDATED 1343975 MROS Melkersson-Rosenthal syndrome 7240710 7923865 8011 14595 1602032 MROH5 maestro heat-like repeat family member 5 8 8 8 q24.3 138610353 138681759 - 142513111 142586512 - 142443929 142517330 - 16344560;12477932;21988832 389690 E5RFU7;E5RII6;Q6ZMW9;Q6ZUA9 ABBA01013690;ABBA01029374;ABBA01029375;AC100803;AC138647;AK125848;AK131461;AMYH01019073;AMYH01019074;BC144560;CH471060;DB063153;DB070296;DN831584;HC006996;HC044709;NM_207414;NR_102363;NR_102364 AAI72345;BAC86317;BAD18606;CBH19303;CBH30684;EAW92232;EAW92233;EAW92234;NP_997297;Q6ZUA9 Hs.689547 1690005;1764885;1786654 RH79822;SHGC-148446;SHGC-149588 OTTHUMP00000227551;hypothetical protein LOC389690;maestro heat-like repeat family member 5;uncharacterized protein LOC389690 APPROVED protein-coding ENSG00000226807;ENSG00000269739 42976 13480 VALIDATED 2302193 MROH1 maestro heat-like repeat family member 1 8 8 8 q24.3 141546188 141660711 + 145274907 145388831 + 145202919 145316843 + 6480464 16344560;15146197;14702039;12477932;11347906;21628590;20379614;21890473;21906983;23000965 727957 E9PHY8;Q8ND95 AB058736;ABBA01005218;ABBA01005219;ABBA01005220;ABBA01005221;ABBA01005222;ABBA01005223;AC104592;AC145291;AK023386;AK092861;AK093563;AK093585;AK124551;AK295740;AL834145;AL834309;AMYH01019132;AMYH01019133;AMYH01019134;AMYH01019135;BC017118;BC040742;BC057824;BC067855;BC092486;BC146603;CH471162;CN333563;DA934047;NM_001099280;NM_001099281;NM_032450 AAH17118;AAH40742;AAH57824;AAH67855;AAH92486;BAB47462;BAG58577;CAD38858;CAD38979;EAW82134;EAW82140;EAW82143;NP_001092750;NP_001092751;NP_115826;Q8NDA8 Hs.443139 2148557;5014051;5015619;5016478;5021872;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;GDB:434012;WI-17683;sY3084 DKFZp434I0113;DKFZp434P167;FLJ13324;FLJ35542;FLJ36244;FLJ36266;FLJ42560;HEATR7A;KIAA1833;MGC50841 HEAT repeat containing 7A;HEAT repeat-containing protein 7A;OTTHUMP00000230958;OTTHUMP00000230959;OTTHUMP00000230960;maestro heat-like repeat-containing protein family member 1 APPROVED protein-coding ENSG00000179832 26958 VALIDATED 1603139 MROH6 maestro heat-like repeat family member 6 8 8 8 q24.3 140958618 140965169 - 144719505 144726071 - 144648362 144654928 - 6480464 16344560;12477932;9776767;21906983 642475 A6NGR9;E9PJR4;E9PPP7 ABBA01005247;ABBA01005248;ABBA01005249;AC067930;AF086255;AF289596;AK292180;AL040647;AMYH01019109;AMYH01019110;BC029031;BM148864;BX341537;CD579780;DB003146;DN831781;NM_001100878 A6NGR9;AAL55780;BAF84869;NP_001094348 Hs.531406 1685461;2121986;2159684 D8S2072;RH99218;WI-8705 C8orf73 OTTHUMP00000228709;OTTHUMP00000228713;maestro heat-like repeat-containing protein family member 6;putative uncharacterized protein C8orf73 APPROVED protein-coding ENSG00000204839 27814 VALIDATED 1342568 MRP63P10 mitochondrial ribosomal protein 63 pseudogene 10 Y Y Y p11.2 3332113 3332374 + 10603792 10604053 + 9993792 9994053 + 12706105 347587 ABBA01031169;AC006987;AY135245;NG_002837 2188269;2188275;2188289 G66308;G66311;G66320 pseudo 23965 INFERRED 1343179 MRP63P2 mitochondrial ribosomal protein 63 pseudogene 2 1 1 1 q42.13 200951819 200952026 - 225826564 225826771 - 227759941 227760148 - 12706105 359729 ABBA01009611;AL451054;AMYH01001783;AY135237;NG_002845 pseudo 29687 INFERRED 1352482 MRP63P3 mitochondrial ribosomal protein 63 pseudogene 3 3 3 3 p21.31 47008850 47009045 + 47045338 47045533 + 47070334 47070529 + 12706105 359730 ABBA01024708;AC094020;AMYH01013140;AY135238;NG_002846;NG_032091 pseudo 29688 INFERRED 1347527 MRP63P6 mitochondrial ribosomal protein 63 pseudogene 6 5 5 5 q34 158500359 158500684 + 162398865 162399190 + 162466287 162466612 + 12706105 134490 ABBA01044190;AC113414;AMYH01015768;AY135241;NG_002829 pseudo 29689 INFERRED 1345049 MRP63P7 mitochondrial ribosomal protein 63 pseudogene 7 8 8 8 q22.2 96104176 96104448 - 99987659 99987931 - 99918483 99918755 - 12706105 359731 ABBA01037546;AC016877;AMYH01018919;AY135242;NG_002847 pseudo 29690 INFERRED 1345839 MRP63P1 mitochondrial ribosomal protein 63 pseudogene 1 1 1 1 p13.1 113050864 113051148 - 114623147 114623431 - 114821624 114821908 - 12706105 126581 ABBA01068460;AL121999;AMYH01000964;AY135236;NG_002827 pseudo 29686 INFERRED 1354513 MRP63P8 mitochondrial ribosomal protein 63 pseudogene 8 14 14 14 q13.2 15552051 15552325 - 34757977 34758251 - 35688226 35688500 - 12706105 359732 ABBA01061499;AL121594;AMYH01005666;AY135243;NG_002848 pseudo 29691 INFERRED 1353636 MRP63P9 mitochondrial ribosomal protein 63 pseudogene 9 14 14 14 q22.1 31251431 31251625 + 50454125 50454319 + 51384375 51384569 + 12706105 359733 ABBA01018147;AL358334;AMYH01005723;AY135244;NG_002849;NG_012796 1848114 WI-18152 pseudo 29692 INFERRED 1605524 MROH7 maestro heat-like repeat family member 7 1 1 1 p32.3 53395010 53463531 + 54880032 54948527 + 55107427 55175939 + 6480464 14702039;12477932;8889548;20379614 374977 B7Z7S6;B7ZBM2;C9K0L2;F5H7R4;F8W8P2;F8WC02;F8WE25;F8WFA2;Q68CQ1 ABBA01074709;ABBA01074710;ABBA01074711;AK093272;AK128221;AK130047;AK301894;AK302446;AK302703;AL042708;AL096749;AL117640;AL139244;AL590093;AL704849;AL832492;AMYH01000640;BC029191;BC095478;BC126126;BC143891;BC143892;BC144516;BM673384;DB457600;NM_001039464;NR_026782 AAH29191;AAI26127;AAI43892;BAC04116;BAC85285;BAC87334;BAG63325;BAG63928;BAH13712;CAH10722;NP_001034553;Q68CQ1 Hs.412482 2114209;2159654;5021396;5037552;5112017 AL010098;D8S2279;G44365;GDB:313783;SHGC-57715 C1orf175;DKFZp434K085;DKFZp686L2332;DKFZp781B0622;FLJ45063;FLJ46354;HEATR8 HEAT repeat containing 8;HEAT repeat-containing protein 8;OTTHUMP00000205833;OTTHUMP00000211242;OTTHUMP00000211248;hypothetical protein LOC374977;maestro heat-like repeat-containing protein family member 7 APPROVED protein-coding ENSG00000184313 24802 10993 VALIDATED 1606721 MRPL11P2 mitochondrial ribosomal protein L11 pseudogene 2 5 5 5 q31.3 137497049 137497467 - 141396456 141396874 - 141416272 141416690 - 12706105 134008 ABBA01026392;AC005740;AMYH01015662;AY135247;NG_002416 2125534 RH12626 pseudo 29694 INFERRED 1346497 MRPL11P3 mitochondrial ribosomal protein L11 pseudogene 3 12 12 12 q21.2 78532596 78532705 - 77391225 77391334 - 78867094 78867203 - 12706105 359734 ABBA01053523;AC068994;AMYH01004608;AY135248;NG_002850 pseudo 29695 INFERRED 1352113 MROH8 maestro heat-like repeat family member 8 20 20 20 q11.22 32437218 32515565 - 35163043 35241388 - 35729629 35807974 - 6480464 16381901;15635413;15489336;15342556;14702039;12477932;11780052;11256614;11076863;19668339;20379614;21832049 140699 E7ETR9;H0Y2W4;H0Y3S5;H0Y7Y5;H7BXD1;H7BZY8;Q0P682;Q5JYQ9;Q5JYR0;Q6PF12;Q9H579 ABBA01006611;ABBA01006612;ABBA01006613;ABBA01006614;ABBA01006615;AK093432;AL031659;AL136172;AL833864;AL844420;AMYH01011893;AMYH01011894;AMYH01011895;BC030006;BC057767;BP371691;BU783865;BX098572;BX119123;NM_152503;NM_213631;NM_213632 AAH30006;AAH57767;BAC04162;CAD38722;CAL37400;CAL37697;NP_689716;NP_998796;NP_998797;Q9H579 Hs.349125 1339171;1691358;1691362;2137921;2157301 AL031789;AL031796;D18S997;WI-17924;Z94666 C20orf131;C20orf132;DKFZp434N0426;FLJ36113;dJ621N11.3;dJ621N11.4 OTTHUMP00000030894;OTTHUMP00000030896;OTTHUMP00000030898;OTTHUMP00000180603;hypothetical protein LOC140699;maestro heat-like repeat-containing protein family member 8;protein MROH8;uncharacterized protein C20orf132 APPROVED protein-coding ENSG00000101353 16125 12745 VALIDATED 1602210 MROH9 maestro heat-like repeat family member 9 1 1 1 q24.3 144014146 144143886 + 169171260 169234571 + 170904612 171033906 + 6480464 16344560;12477932 80133 H0Y687;Q5TGP6 ABBA01027935;ABBA01027936;ABBA01027937;ABBA01027938;ABBA01027939;AK027203;AL031965;AMYH01001491;BC113390;BC113392;BX284613;CH471067;DB096780;DB211602;DB230154;DV080473;NM_001163629;NM_025063 AAI13391;AAI13393;BAB15690;EAW90884;EAW90885;NP_001157101;NP_079339;Q5TGP6 Hs.591489 1695914;1709570;1752971;2181504 AL009360;SHGC-106855;SHGC-78870;SHGC-85137 ARMC11;C1orf129;FLJ23550 OTTHUMP00000038847;armadillo repeat containing 11;hypothetical protein LOC80133;maestro heat-like repeat-containing protein family member 9;uncharacterized protein C1orf129 APPROVED protein-coding ENSG00000117501 26287 08672 VALIDATED 1321750 MRP63 mitochondrial ribosomal protein 63 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008] 13 13 13 q12.11 2812030 2814882 + 20648372 20651223 + 21750372 21753223 + 6480464 15489334;12706105;12477932;11543634;11402041;8889548;15525513;20877624;22939629;21139048 78988 Q9BQC6 AB049957;ABBA01068601;AL158032;AMYH01004955;AW445203;BC000002;BC023616;BC068492;BG030730;BG773624;BG778041;BI601227;CF890784;CH471075;CS072369;NM_024026 AAH23616;AAH68492;ABM83014;ABM86207;BAB41010;CAI93507;EAX08296;EAX08297;EAX08298;NP_076931;Q9BQC6 Hs.458367 2149321;5015861;5016478;5020635;5020948;5037554;5118718;7183240;7185938 D10S16;D11S3590;D7S3207;D8S2282;G35510;GDB:434012;STS-T26585 MGC3243;bMRP63 OTTHUMP00000176880;hMRP63;mitochondrial ribosomal protein bMRP63;ribosomal protein 63, mitochondrial APPROVED protein-coding ENSG00000173141 14514 14736 611997 REVIEWED 1345632 MRPL14P1 mitochondrial ribosomal protein L14 pseudogene 1 17 17 17 p13.3 2998 3194 - 1006021 1006217 + 1059271 1059467 + 12706105 359735 ABBA01054638;AC015884;AMYH01007988;AY135249;NG_002851 pseudo 29696 INFERRED 1315061 MRPL10 mitochondrial ribosomal protein L10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010] 17 17 17 q21.32 42353443 42361707 - 43255637 43263902 - 45900638 45908907 - 6480464 15489334;14733910;12706105;12477932;11551941;11543634;9857009;3129699;16169070;16344560;18029348;19948975;20379614;20877624;19913121;20628086;23535033;21832049;22939629;20186120;21906983 124995 F2Z2K7;Q7Z7H8 AB051618;ABBA01041146;AC003665;AI221522;AK127167;AK293624;AL558270;AL701268;AMYH01008451;BC015904;BC039852;BC052601;CH471109;DA137043;NM_145255;NM_148887;NR_037575 AAH15904;AAH52601;ABM82065;ABM85244;BAB54946;BAG54446;BAG57081;EAW94795;EAW94796;EAW94797;EAW94798;EAW94799;NP_660298;NP_683685;Q7Z7H8 Hs.347535 1681454;1694542;1720965;1797870;2141193;5109281 D1S1425;G43163;G59312;MRPL10_2482;RH64830;STS-AA039646 L10MT;MGC17973;MRP-L10;MRP-L8;MRPL8;RPML8 39S ribosomal protein L10, mitochondrial;39S ribosomal protein L8, mitochondrial;L8mt;OTTHUMP00000209655;OTTHUMP00000209656;OTTHUMP00000209657 APPROVED protein-coding ENSG00000159111 14055 14738 611825 REVIEWED 1351695 MRPL15P1 mitochondrial ribosomal protein L15 pseudogene 1 15 15 15 q26.1 66698335 66699524 + 88096577 88097739 + 90295575 90296764 + 12706105 359736 ABBA01053019;AC079075;AMYH01006916;AY135250;AY135251;NG_002852 MRPL15P2 pseudo 29697 INFERRED 1347202 MRPL11 mitochondrial ribosomal protein L11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 5q and 12q. [provided by RefSeq, Jul 2008] 11 11 11 q13.3 63522582 63526342 - 65959881 65962880 - 66202550 66206310 - 1580863;6480464 16712791;11543634;17242401;16344560;16341674;15489334;14702039;12815950;12706105;12477932;11279069;10810093;8125298;21145461;18032916;21832049;22939629;20186120;21628590;21926972;21890473;22190034 65003 E9PQB6;H0YCD5;Q9Y3B7 AB049638;AB051338;ABBA01024078;AF151871;AK127603;AK223112;AK290084;AL519939;AMYH01003734;AP002748;BC005002;BC108277;BI193255;BM554886;BM755421;BQ020382;CB115338;CH471076;DB317593;HB905036;HB921749;HB950868;HC962445;HC979158;HD008278;NM_016050;NM_170738;NM_170739 AAD34108;AAH05002;AAI08278;ADZ15692;BAB40843;BAB54928;BAD96832;BAF82773;CBF84275;CBF95859;CBG10116;CBV01195;CBV09379;CBV23638;EAW74526;EAW74527;EAW74528;EAW74529;EAW74530;EAW74531;NP_057134;NP_733934;NP_733935;Q9Y3B7 Hs.418450 2118635;2125534 RH12626;RH44905 CGI-113;L11MT;MGC111024;MRP-L11 39S ribosomal protein L11, mitochondrial;OTTHUMP00000235145;OTTHUMP00000235146;OTTHUMP00000235149 APPROVED protein-coding ENSG00000174547 14042 14739 611826 REVIEWED 1343345 MRPL12 mitochondrial ribosomal protein L12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008] 17 17 17 q25 76315553 76319694 + 77280812 77284953 + 79670400 79674556 + 1580863;6480464 21145461;8626705;17337445;9169145;16169070;15635413;15489334;12706105;12477932;11551941;11543634;10600119;20877624;16344560;16159877;22939629;20360068;20186120;21628590;19103604 6182 P52815 AB051337;ABBA01032160;AC139530;AF059736;AF105278;AMYH01008718;BC002344;BC007497;CA310089;CH471099;DA648796;EF036488;NM_002949;U25041;X79865 AAC73110;AAD16894;AAG32154;AAH02344;AAH07497;ABO65074;BAB54927;CAA56249;EAW89680;NP_002940;P52815 Hs.109059 2118929 RH78898 5c5-2;FLJ60124;L12mt;MGC8610;MRP-L31/34;MRPL7;MRPL7/L12;RPML12 39S ribosomal protein L12, mitochondrial;MRP-L12 APPROVED protein-coding ENSG00000262814 10378 03849 602375 REVIEWED 1315701 MRPL1 mitochondrial ribosomal protein L1 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 76085074 76174865 + 79002829 79092968 + 78783805 78873944 + 1580863;6480464 21145461;16368877;15815621;15489334;14702039;12706105;12477932;11543634;11279069;11042152;8889548;17207965;20877624;20379614;21832049;22939629;20186120;21139048;21890473 65008 H0Y8N7;H0YAB5;Q9BYD6 AB049474;ABBA01063375;ABBA01063376;AC112225;AC114801;AF212225;AK024791;AK315600;AMYH01014322;BC014356;BC015109;BC017765;BC032595;BU675164;BY799718;CH471057;CR457191;NM_020236 AAF87327;AAH14356;AAH15109;AAH17765;AAH32595;AAY41057;ADQ31830;BAB15005;BAB40180;CAG33472;EAX05820;NP_064621;Q9BYD6 Hs.532019 1338799;1769840;1770479;1847043;2183800 D4S1081;D4S2363;G01888;RH18270;SHGC-59240 BM022;FLJ96680;L1MT;MRP-L1 39S ribosomal protein L1, mitochondrial;OTTHUMP00000160703;OTTHUMP00000219156 APPROVED protein-coding ENSG00000169288 14275 611821 REVIEWED 1351918 MRPL13 mitochondrial ribosomal protein L13 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 8 8 8 q22.1-q22.3 117597215 117646764 - 121477264 121526828 - 121408083 121457647 - 1580863;6480464 11279069;18995835;15560738;15489334;12706105;12477932;11543634;8076819;15146197;20877624;20601428;22939629;20186120;21139048;21890473 28998 E5RFI2;E5RJI7;H0YAX3;Q9BYD1 AB049640;ABBA01037836;AC107877;AF112214;AK307322;AK311924;AMYH01018995;BC009190;BC021744;BF243677;CH471060;CN362173;HB899267;HB910114;HB932238;HB949017;HB953748;HB957079;HC956676;HC967523;HC989647;HD006427;HD011158;HD014489;NM_014078 AAF17202;AAH09190;AAH21744;ABM84043;ABM84413;ABM87394;BAB40845;BAG34865;CBF78079;CBF89863;CBG00999;CBG09207;CBG11537;CBG13159;CBU98411;CBV03682;CBV14519;CBV22729;CBV25051;CBV26673;EAW92003;EAW92004;EAW92005;NP_054797;Q9BYD1 Hs.333823 5125680 STS-N34296 L13;L13A;L13mt;RPL13;RPML13 39S ribosomal protein L13, mitochondrial;MRP-L13;OTTHUMP00000228247;OTTHUMP00000228248 APPROVED protein-coding ENSG00000172172 14278 14740 610200 REVIEWED 1314744 MRPL14 mitochondrial ribosomal protein L14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 17p13.3. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 45634515 45648332 - 44189350 44203169 - 44081372 44095191 - 6480464 15489334;14574404;12706105;12477932;11543634;9857009;21145461;17207965;20877624;22939629;20186120;21139048;21757650;23171548;23377640 64928 Q6P1L8 AA758781;AB051339;ABBA01050651;AK312086;AL109615;AL365192;AMYH01016319;BC010416;BC065005;BM559405;BM910935;CH471081;NM_032111 AAH65005;ADQ33133;BAB54929;BAG35022;EAX04242;EAX04243;EAX04244;EAX04245;NP_115487;Q6P1L8 Hs.311190 1726633;2154542;2177726 1588;G62551;RH16304 L14mt;L32mt;MGC70566;MRP-L14;MRP-L32;MRPL32;RMPL32;RPML32 39S ribosomal protein L14, mitochondrial;39S ribosomal protein L32, mitochondrial;OTTHUMP00000016500 APPROVED protein-coding ENSG00000180992 14279 14741 611827 REVIEWED 1312447 MRPL15 mitochondrial ribosomal protein L15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008] 8 8 8 q11.2-q13 51038346 51051638 + 55210334 55223014 + 55047781 55061074 + 1580863;6480464 16381901;16344560;15489336;15489334;12706105;12477932;11543634;11256614;11230166;11076863;11042152;10593885;21145461;20877624;22939629;20186120;20972266;21139048;21890473;21628590 29088 E5RHF4;E5RIZ4;Q9P015 AB051619;ABBA01041738;AC060764;AF161494;AK312832;AL136665;AMYH01018726;BC000891;BM510276;CH471068;CR533531;DA504537;NM_014175 AAF29109;AAH00891;BAB54947;BAG35686;CAB66600;CAG38562;CAL37842;EAW86747;NP_054894;Q9P015 Hs.18349 1672717;2217624 MRPL15_3130;WI-12392 HSPC145;L15mt;MRP-L15;MRP-L7;RPML7 39S ribosomal protein L15, mitochondrial;OTTHUMP00000226445;OTTHUMP00000226575 APPROVED protein-coding 14054 14742 611828 REVIEWED 2293807 MRPL20P1 mitochondrial ribosomal protein L20 pseudogene 1 21 21 21 q22.2 23565252 23565929 + 37288776 37289245 + 38366858 38367548 + 12706105 359737 ABBA01057408;AMYH01012231;AP000704;AY135253;NG_002853 pseudo 29699 INFERRED 1354403 MRPL16 mitochondrial ribosomal protein L16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56936350 56941087 - 59330189 59334921 - 59573608 59578345 - 6480464 15489334;14702039;12706105;12477932;11551941;11543634;11279069;17207965;20877624;22939629;20186120;20360068;21139048 54948 E9PI14;Q9NX20 AA454132;AB049642;ABBA01021509;AF183428;AF275806;AK000491;AMYH01003663;AP000640;BC001040;BC019269;CA428594;CH471076;CR457117;FB746679;NM_017840 AAG09697;AAG23818;AAH01040;AAH19269;ADQ31701;BAA91202;BAB40847;CAG33398;CAT04647;EAW73858;EAW73859;NP_060310;Q9NX20 Hs.530734 1652719;1667717;1797872;2139208 A007C17;D11S4654;MRPL16_2479;WI-13345 FLJ20484;L16mt;MRP-L16;PNAS-111 39S ribosomal protein L16, mitochondrial;OTTHUMP00000235889 APPROVED protein-coding ENSG00000166902 14476 14743 611829 REVIEWED 1314973 MRPL18 mitochondrial ribosomal protein L18 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L18P ribosomal protein family. Three polymorphic sites exist in this gene, one of which is three nt in length which causes an extra aa near the N-terminus. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 160857576 160865535 + 160131488 160139451 + 160211492 160219461 + 1580863;6480464 11543634;16381901;15489336;15489334;12706105;12477932;11551941;11230166;11076863;11042152;20877624;11256614;20186120;20360068;21139048;21906983 29074 Q9H0U6 ABBA01021060;AF161556;AK311391;AL135914;AL136633;AL139045;AMYH01016804;BC001623;BU932963;CB529016;CH471051;CR533491;NM_014161 AAF29043;AAH01623;CAB66568;CAG38522;CAL38650;EAW47614;EAW47615;NP_054880;Q9H0U6 Hs.416998 1698894;2217626 MRPL18_2880;RH103015 HSPC071;L18mt;MRP-L18 39S ribosomal protein L18, mitochondrial;OTTHUMP00000017534 APPROVED protein-coding ENSG00000112110 14477 14744 611831 REVIEWED 4144481 MRPL22P1 mitochondrial ribosomal protein L22 pseudogene 1 4 4 4 q12 54693198 54693885 - 56881570 56882257 - 57186813 57187500 - 12706105 359738 ABBA01003421;AC068620;AMYH01014194;AY135254;NG_002854 2166738;2185133 D4S260;G34122 pseudo 29700 INFERRED 1349255 MRPL19 mitochondrial ribosomal protein L19 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 2 2 2 p11.1-q11.2 75705190 75720614 + 75727417 75742842 + 75873909 75889334 + 1580863;6480464 10600119;10942595;17309879;15815621;15489334;12706105;12477932;11543634;11279069;9847074;7788527;21145461;17137291;20379614;20846247;20877624;21832049;22939629;20186120;19953087;21139048 9801 H7BY27;H7C2J0;P49406 AB051621;ABBA01075624;AC005034;AK291250;AK295578;AL157503;AMYH01010457;BC021051;BC030144;BI551514;BQ432684;CH471053;D14660;NM_014763 AAH30144;AAY14972;ABM83229;ABM86428;BAA03494;BAB54949;BAF83939;BAG58476;EAW99590;NP_055578;P49406 Hs.44024 1652963;1677244;1678807;1691080;1796340;1855896;2170849;2171607;2181482 A005D43;MRPL19_1324;RH17376;RH25331;RH47897;RH69443;RH91833;RH99131;SHGC-24037 KIAA0104;L19mt;MGC20675;MRP-L15;MRP-L19;MRPL15;RLX1;RPML15 39S ribosomal protein L15, mitochondrial;39S ribosomal protein L19, mitochondrial;L15mt;OTTHUMP00000160451;OTTHUMP00000202782 APPROVED protein-coding 14052 11370 611832 REVIEWED 5487919 MRPL23-AS1 MRPL23 antisense RNA 1 11 p15.5 2004439 2011150 - 11181995 100133545 ABBA01012169;AC051649;AMYH01003318;CH471158;NR_024471 EAX02475 Hs.677620 1799704;1800622;1801504;1802144;1805328;1805864;1807100;1829890;2090346;2090348;2090350;2090352;2090354;2090356;2090358;2090360;2090362;2090364;2090366;2090368;2090370;2090372;2090374;2090376;2090378;2090380;2090382;2090384;2090386;2090388;2090390;2090392;2090394;2090396;2090398;2090400;2090402;2090404;2090406;2216590;2216592;2216594;2216596;2216598;2216600;2216602 ECD00706;ECD01172;ECD01628;ECD01954;ECD03611;ECD03885;ECD04515;ECD16078;REN116450;REN116451;REN116452;REN116453;REN116454;REN116455;REN116456;REN116457;REN116458;REN116459;REN116460;REN116461;REN116462;REN116463;REN116464;REN116465;REN116466;REN116467;REN116468;REN116469;REN116470;REN116471;REN116472;REN116473;REN116474;REN116475;REN116476;REN116477;REN116478;REN116479;REN116480;stSG548612;stSG548613;stSG548614;stSG548615;stSG548616;stSG548617;stSG548618 APPROVED miscrna ENSG00000226416 42812 VALIDATED 1316168 MRPL2 mitochondrial ribosomal protein L2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 44574010 44579485 - 43129745 43135220 - 43021767 43027242 - 1580863;6480464 18029348;15489334;14574404;12706105;12477932;11543634;10810093;10593885;21145461;17207965;20877624;22939629;20186120;21139048;21906983 51069 C9IY40;C9J5E0;C9JZG7;C9JZW2;Q5T653 AB051617;ABBA01050696;AF086160;AF132956;AK301041;AK314948;AL355385;AMYH01016311;BC013685;BC020212;BM563754;CH471081;NM_015950 AAD27731;AAH13685;AAH20212;ADQ31732;BAB54945;BAG37453;BAG62654;EAX04150;EAX04151;EAX04152;EAX04153;NP_057034;Q5T653 Hs.55041 2217628;5096732 MRPL2_2872;SHGC-57482 CGI-22;MRP-L14;RPML14 39S ribosomal protein L2, mitochondrial;L2mt;MRP-L2;OTTHUMP00000016419;OTTHUMP00000216922 APPROVED protein-coding ENSG00000112651 14056 14745 611822 REVIEWED 1354168 MRPL25 mitochondrial ribosomal protein L25 14481 1351315 MRPL26 mitochondrial ribosomal protein L26 14482 1351017 MRPL17 mitochondrial ribosomal protein L17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 11 11 11 p15.5-p15.4 6820715 6823731 - 6659456 6661150 - 6701616 6704632 - 6480464 11984006;18162190;16344560;15489334;14702039;12706105;12477932;11543634;10931946;10593885;8889548;20877624;22939629;20186120;21139048 63875 E9PKV2;Q9NRX2 AB051620;ABBA01028671;AC091564;AF141338;AF164797;AK026857;AL572779;AMYH01003368;BC012306;BF513148;BM725086;BQ066780;CH471064;CR457177;DA876701;DB228622;NM_022061 AAF80761;AAG49441;AAH12306;ABM82507;ABM85700;ABM85962;BAB15575;BAB54948;CAG33458;EAW68681;EAW68682;NP_071344;Q9NRX2 Hs.523456;Hs.708782 1652979;1655632;1664879;1686456;2147138;2219172 MRPL17_3129;RH41797;RH98881;SGC33125;STS-AA039615;STS-T56255 L17mt;LIP2;MRP-L17;MRP-L26;RPL17L;RPML26 39S ribosomal protein L17, mitochondrial;LYST-interacting protein 2;LYST-interacting protein LIP2;OTTHUMP00000230003 APPROVED protein-coding ENSG00000158042 14053 10096 611830 REVIEWED 1319575 MRPL20 mitochondrial ribosomal protein L20 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. [provided by RefSeq, Jul 2008] 1 1 1 p36.3-p36.2 1238564 1243981 + 1327159 1332524 - 1337276 1342693 - 1580863;6480464 11181995;16710414;16169070;15489334;14702039;12706105;12477932;11551941;11543634;11279069;20877624;20601428;21832049;22939629;20186120;21139048;21890473;21906983;21900206;22505724 55052 B7Z746;I3L2X1;Q9BYC9 AB049644;ABBA01016038;AC026283;AK000886;AK315794;AL391244;AMYH01000132;AW015403;BC009515;BC014316;BC059945;BG700526;CH471183;NM_017971 AAH09515;AAH14316;AAH59945;BAA91406;BAB40849;BAG38138;EAW56206;EAW56207;EAW56208;NP_060441;Q9BYC9 Hs.182698 1678211;1700220;1766309;2117581;2145235 RH103727;SHGC-149656;SHGC-192;SHGC-74086;WIAF-2083 L20mt;MGC4779;MGC74465;MRP-L20 39S ribosomal protein L20, mitochondrial;OTTHUMP00000002947 APPROVED protein-coding ENSG00000242485 14478 14746 611833 REVIEWED 1345650 MRPL29 mitochondrial ribosomal protein L29 14485 1349501 MRPL2P1 mitochondrial ribosomal protein L2 pseudogene 1 12 12 12 q21.33 89818354 89819295 + 88670822 88671741 + 90146688 90147629 + 12706105 347894 ABBA01053416;AC009522;AMYH01004649;AY135252;NG_002838 pseudo 29698 INFERRED 1320967 MRPL21 mitochondrial ribosomal protein L21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008] 11 11 11 q13.3 65998605 66010817 - 68415322 68427879 - 68658746 68671303 - 1580863;6480464 15489334;14702039;12706105;12477932;11943462;11551941;20877624;17207965;22939629;21145461;21139048;21890473;21906983 219927 F5H3L0;F5H4R5;F5H7V8;H3BUY0;Q7Z2W9 ABBA01023977;AK096756;AK301989;AMYH01003768;AP000808;AV711404;BC055088;BM916618;CH471076;NM_181514;NM_181515 AAH55088;ADQ32139;BAG63396;EAW74724;EAW74725;EAW74726;EAW74727;EAW74728;NP_852615;NP_852616;Q7Z2W9 Hs.503047 5108135 RH15743 L21mt;MGC62013;MRP-L21 39S ribosomal protein L21, mitochondrial;OTTHUMP00000237199;OTTHUMP00000237200;OTTHUMP00000238413 APPROVED protein-coding ENSG00000197345 14479 14747 611834 REVIEWED 68481 MRPL23 mitochondrial ribosomal protein L23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2007763 2016982 + 1925114 1934408 + 1968502 1977839 + 1302322;1580863;6480464 8541832 19304784;17242401;15489334;15146197;12706105;12477932;11943462;11543634;11279069;8889548;19615732;20877624;22939629;20186120;22354994;22779921;21139048 6150 A6NJD9;A8MVT4;A8MYK1;H7C2P7;Q16540 AB051340;ABBA01012169;AC051649;AK128774;AK313805;AMYH01003318;BC027710;BM670857;CH471158;CN310387;NM_021134;U26596;Z49254 AAC50415;AAH27710;BAB54930;BAG36541;CAA89220;EAX02472;EAX02473;NP_066957;Q16540 Hs.3254 1798794;1799220;1799354;1799922;1800506;1801582;1802252;1802612;1802920;1803398;1803510;1803712;1804072;1809778;1811008;1811458;1833756;2090070;2090072;2090074;2090076;2090078;2090080;2090082;2090084;2090086;2090088;2090090;2090092;2090094;2090096;2090098;2090100;2090102;2090104;2090106;2090108;2090110;2090112;2090114;2090116;2090118;2090120;2090122;2090124;2090126;2090128;2090130;2090132;2090134;2090136;2090138;2090140;2090142;2090144;2090146;2090148;2090150;2090152;2090154;2090156;2090280;2090282;2090284;2090286;2090288;2090290;2090292;2090294;2090296;2090298;2090300;2090302;2090304;2090306;2090308;2090310;2216542;2216544;2216546;2216548;2216550;2216552;2216554;2216556;2216580;5017003;5094560;5100492;5108339 D21S249E;ECD00237;ECD00458;ECD00526;ECD00815;ECD01113;ECD01669;ECD02010;ECD02193;ECD02349;ECD02596;ECD02656;ECD02762;ECD02953;ECD05881;ECD06502;ECD06729;ECD18023;REN116310;REN116311;REN116312;REN116313;REN116314;REN116315;REN116316;REN116317;REN116318;REN116319;REN116320;REN116321;REN116322;REN116323;REN116324;REN116325;REN116326;REN116327;REN116329;REN116330;REN116331;REN116332;REN116333;REN116334;REN116335;REN116336;REN116337;REN116338;REN116339;REN116340;REN116341;REN116342;REN116343;REN116344;REN116345;REN116346;REN116347;REN116348;REN116349;REN116350;REN116351;REN116352;REN116353;REN116354;REN116416;REN116417;REN116418;REN116419;REN116420;REN116421;REN116422;REN116423;REN116424;REN116425;REN116426;REN116427;REN116428;REN116429;REN116430;REN116431;REN116432;stSG548584;stSG548586;stSG548587;stSG548588;stSG548589;stSG548590;stSG548591;stSG548592;stSG548605;stSG548606;stSG548607 FLJ45387;L23MRP;RPL23;RPL23L 39S ribosomal protein L23, mitochondrial;L23 mitochondrial-related protein;L23mt;MRP-L23;OTTHUMP00000014439;OTTHUMP00000014440;OTTHUMP00000069610;OTTHUMP00000195522;OTTHUMP00000199809;ribosomal protein L23-like;ribosomal protein related to L23 (mitochondrial) APPROVED protein-coding ENSG00000214026 10322 02876 600789 REVIEWED 4144490 MRPL30P1 mitochondrial ribosomal protein L30 pseudogene 1 6 6 6 p12.1 58557448 58557818 + 57002253 57002623 + 56894294 56894664 + 12706105 359740 ABBA01050487;AL450489;AMYH01016369;AY135257;NG_002856 pseudo 29702 INFERRED 1344820 MRPL24 mitochondrial ribosomal protein L24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 129778326 129782155 - 154973718 154977547 - 156707094 156710923 - 6480464 21145461;16710414;15489334;14702039;12706105;12477932;11543634;10751423;8125298;20877624;21832049;22939629;20360068;20186120;21139048 79590 Q9H7G3 AA730909;AB051341;ABBA01016647;AK024570;AK222500;AK223066;AL590666;AMYH01001438;BC012440;BC016700;BG706700;CH471121;CR457329;NM_024540;NM_145729 AAH12440;AAH16700;BAB14929;BAB54931;BAD96220;BAD96786;CAG33610;EAW52913;EAW52914;NP_078816;NP_663781;Q96A35 Hs.418233 1644303;1670958;1767401;1777367;1781482;1849422;2130503 G16300;RH11678;RH17641;SHGC-12542;SHGC-132399;SHGC-2664;SHGC-33059 FLJ20917;L24mt;MGC22737;MGC9831;MRP-L18;MRP-L24 39S ribosomal protein L24, mitochondrial;OTTHUMP00000038724;OTTHUMP00000038725;OTTHUMP00000038728 APPROVED protein-coding ENSG00000143314 14037 14749 611836 REVIEWED 1350315 MRPL31 mitochondrial ribosomal protein L31 14486 1319534 MRPL22 mitochondrial ribosomal protein L22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q33.2 150397493 150425833 + 154300839 154326724 + 154320633 154348971 + 1580863;6480464 15489334;15342556;14702039;12706105;12477932;11943462;11551941;11543634;11042152;9857009;8889548;17207965;20877624;20379614;20186120;22939629;21139048;21890473;21906983 29093 E7ESL0;H0YBZ7;J3KQY1;Q9NWU5 AB051622;ABBA01026217;AC008410;AC008421;AF161507;AK000601;AK097880;AK302784;AMYH01015731;BC012565;BM662504;BP372420;BU943770;CH471062;CR933679;FB342957;FB711080;NM_001014990;NM_014180 AAF29122;AAH12565;ADQ32414;BAA91282;BAB54950;BAG63988;CAI45973;CAR81479;CAS91495;EAW61622;NP_001014990;NP_054899;Q9NWU5 Hs.483924 1647036 SHGC-32594 DKFZp781F1071;HSPC158;L22mt;MRP-L22;MRP-L25;RPML25 39S ribosomal protein L22, mitochondrial;39S ribosomal protein L25, mitochondrial;L25mt;OTTHUMP00000160693;OTTHUMP00000226009;OTTHUMP00000226010;OTTHUMP00000226011 APPROVED protein-coding ENSG00000082515 14480 14748 611835 REVIEWED 4144506 MRPL30P2 mitochondrial ribosomal protein L30 pseudogene 2 12 12 12 p11.2 11451951 11452332 + 31521677 31522058 + 31630410 31630791 + 12706105 359817 ABBA01031748;AC022080;AMYH01004365;AY135258;AY135259;NG_002912 1684754 RH94231 MRPL30P3 pseudo 29703 INFERRED 4144488 MRPL32P1 mitochondrial ribosomal protein L32 pseudogene 1 X X X p11.23 53224000 53224263 + 48326425 48326688 - 48441481 48441744 - 12706105 359741 AC115618;AMYH01022290;AY135260;NG_002857 pseudo 29704 INFERRED 1319233 MRPL27 mitochondrial ribosomal protein L27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.3-q22 44906525 44911851 - 45800227 45805561 - 48445228 48450562 - 1580863;6480464 11279069;16341674;15489334;14702039;12706105;12477932;11543634;11042152;20877624;21832049;16196087;20186120;21139048;21890473;15576338 51264 B3KN43;D6RAN8;D6RE11;H7C5U8;Q9P0M9 AB049647;ABBA01041239;AC004707;AC015909;AF151084;AK023576;AK315758;AMYH01008471;BC001066;BC021986;BG829493;BM840463;CH471109;CS072286;CS072314;NM_016504 AAF36170;AAH01066;AAH21986;BAB40852;BAG38111;BAG51205;CAI93424;CAI93452;EAW94622;EAW94623;EAW94624;NP_057588;Q9P0M9 Hs.7736 1797874;2124776;2167951 MRPL27_1920;NIB1385;WI-14315 L27mt;MGC23716 39S ribosomal protein L27, mitochondrial;MRP-L27;OTTHUMP00000221162;OTTHUMP00000221163;OTTHUMP00000221164;OTTHUMP00000221194;OTTHUMP00000221195 APPROVED protein-coding ENSG00000108826 14483 14750 611837 REVIEWED 1314981 MRPL3 mitochondrial ribosomal protein L3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008] 3 3 3 q21-q23 129607070 129647849 - 132663735 132704519 - 131181045 131221860 - 1580863;6480464 2891103;15489334;12706105;12477932;11543634;21145461;17207965;20877624;21832049;22939629;20186120;22507240;21139048;21906983;21786366;22904065 11222 D6RBQ5;D6RC14;E7ETU7;E9PF06;H0Y9G6;P09001 AB051336;ABBA01059194;AC107027;AK296626;AK301377;AMYH01013497;BC003375;BI490082;BM992835;CH471052;CR456720;DC398662;NG_029207;NM_007208;X06323 AAH03375;ADQ32733;BAB54926;BAG59232;BAG62918;CAA29639;CAG33001;EAW79209;NP_009139;P09001 Hs.205163 1334828;1660713;1662171;1679017;1703574;2160408;2168618 D3S3348;D3S3548;SHGC-2622;SHGC-77342;SHGC-82784;STS-X06323;WI-19202 COXPD9;MRL3;RPML3 39S ribosomal protein L3, mitochondrial;L3mt;MRP-L3;OTTHUMP00000215980;OTTHUMP00000216012;OTTHUMP00000216013;mitochondrial 60S ribosomal protein L3;ribosomal protein, mitochondrial, L3 APPROVED protein-coding ENSG00000114686 10379 06175 607118;614582 REVIEWED 1349308 MRPL28 mitochondrial ribosomal protein L28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 617353 621092 - 357397 360541 - 417384 420569 - 1580863;6480464 11551941;11543634;15616553;15489334;14702039;12706105;12477932;11157797;9672845;8125298;7751637;16169070;21145461;19753307;16537434;18029348;20877624;17207965;20601428;21832049;22939629;20186120;21139048;21890473 10573 A2IDC5;A2IDC6;A2IDC7;Q13084;Q4TT37;Q4TT38 ABBA01030376;AE006463;AK096844;AK226042;AK315180;AMYH01006990;BC000507;BC000990;BC013829;BI833047;BI862386;BM967049;BT009857;BX647501;CH471112;CR541751;DB469296;NM_006428;U19796;Z97634 AAC50181;AAH00507;AAH00990;AAK61226;AAP88859;ADQ31619;BAG37621;CAG46551;EAW85827;EAW85828;EAW85829;EAW85830;EAW85831;EAW85832;EAW85833;EAW85834;NP_006419;Q13084 Hs.513230 1808952;1810250;1810252;1811872;1812166;1812518;2049148;2049150;2049152;2049154;2049156;2049158;2049160;2049162;2049164;2049166;2049168;2049170;2049172;2049174;2049176;2049178;2049180;2049182;2049184;2049186;2049188;2049190;2049192;2104712;2115804;2137970;2161675;2165274 ECD05459;ECD06117;ECD06118;ECD06940;ECD07089;ECD07269;NIB1488;REN95715;REN95716;REN95717;REN95718;REN95719;REN95720;REN95721;REN95722;REN95723;REN95724;REN95725;REN95726;REN95727;REN95728;REN95729;REN95732;REN95733;REN95734;REN95735;REN95736;REN95737;REN95738;REN95739;RH15994;RH45380;STS-AA029713;stSG609076 MAAT1;MGC8499;p15 39S ribosomal protein L28, mitochondrial;L28mt;MRP-L28;OTTHUMP00000045638;OTTHUMP00000067336;OTTHUMP00000067337;OTTHUMP00000067338;OTTHUMP00000194920;OTTHUMP00000194921;OTTHUMP00000194923;melanoma antigen p15;melanoma-associated antigen recognised by cytotoxic T lymphocytes;melanoma-associated antigen recognized by T lymphocytes;melanoma-associated antigen recognized by T-lymphocytes APPROVED protein-coding ENSG00000086504 14484 604853 REVIEWED 4144487 MRPL35P2 mitochondrial ribosomal protein L35 pseudogene 2 10 10 10 q21.3 58661704 58662074 - 65064223 65064593 - 65394217 65394587 - 12706105 359743 ABBA01019505;AC022387;AMYH01002779;AY135262;NG_002859 1674184;5093826 A009X23;G32946 pseudo 29706 INFERRED 1345132 MRPL35P3 mitochondrial ribosomal protein L35 pseudogene 3 10 10 10 q22.2 69573453 69573822 + 75957348 75957717 + 76287342 76287711 + 12706105;359744 359744 ABBA01020284;AC022540;AMYH01002835;AY135263;NG_002860;NG_030484 1674184;5093826 A009X23;G32946 pseudo 23731 INFERRED 4144489 MRPL35P1 mitochondrial ribosomal protein L35 pseudogene 1 6 6 6 q23 15189116 15189487 + 14057305 14057676 + 13949326 13949697 + 12706105 359742 ABBA01022138;AL138718;AMYH01016098;AY135261;NG_002858 pseudo 29705 INFERRED 4144479 MRPL35P4 mitochondrial ribosomal protein L35 pseudogene 4 X X X p22.31 16977187 16977555 - 12773102 12773470 - 12863181 12863549 - 12706105 359745 ABBA01071039;AC005859;AMYH01022091;AY135264;NG_002861 pseudo 29707 INFERRED 1345200 MRPL36P1 mitochondrial ribosomal protein L36 pseudogene 1 2 2 2 p13.2 70180394 70180991 + 70183187 70183498 + 70329621 70330218 + 12706105 285003 ABBA01075522;AC016700;AMYH01010425;AY135265;NG_002831 pseudo 29708 INFERRED 1343335 MRPL33 mitochondrial ribosomal protein L33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 2 p21 27839861 27847885 + 27848088 27856112 + 27994584 28002608 + 1580863;6480464 15815621;15489334;12706105;12477932;11543634;11279069;11042152;9653160;20877624;22990118;22581228 9553 F8WF37;O75394 AA836397;AB051623;ABBA01045221;AC074091;AC110084;AF047440;AMYH01010200;BC009475;BC020834;BC087846;BC090047;BI601959;CH471053;CR456888;CR542117;NM_004891;NM_145330 AAC39891;AAH09475;AAH20834;AAH90047;AAX93204;BAB54951;CAG33169;CAG46914;EAX00552;EAX00553;NP_004882;NP_663303;O75394 Hs.515879 1680038;1718479;1720153;1734724;2124503;2165799;5113156 A006U25;D2S1513E;RH122441;RH123855;RH41957;RH93441;SHGC-33508 C2orf1;L33mt;MGC111093;MGC13694;MGC23922;MRP-L33;RPL33L 39S ribosomal protein L33, mitochondrial;OTTHUMP00000123443;OTTHUMP00000200849;ribosomal protein L33-like APPROVED protein-coding ENSG00000243147 14487 14753 610059 REVIEWED 1345251 MRPL37P1 mitochondrial ribosomal protein L37 pseudogene 1 18 q21.31 56357588 56358834 + 100420950;387614 ABBA01056155;AC104971;AMYH01009026;NG_026336 HsT4307 pseudo 31003 INFERRED 1317834 MRPL30 mitochondrial ribosomal protein L30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011] 2 2 2 q11.2 94002173 94018689 + 99164010 99180521 + 99797542 99816020 + 1580863;6480464 15815621;15489334;14702039;12706105;12477932;11543634;11042152;9857009;8125298;20877624;17207965;16344560;22939629;21926972;21890473 51263 B8ZZV5;Q8TCC3 AB051342;ABBA01073951;AC079447;AC092587;AK025547;AK225894;AMYH01010804;BC000217;BC013822;BC022391;BG532984;BU154006;BU533068;DA310406;DB353963;NM_145212;NR_028356 AAH00217;AAH22391;AAX88929;ADQ32227;BAB54932;NP_660213;Q8TCC3 Hs.346736 1656222;1740619;2131633;5014740;5015961;5016596;5022578 D15S1156;D15S1477;D17S610;D1S1423;D2S2886;GDB:631802;WI-20419 FLJ44438;L28MT;L30MT;MGC24095;MGC3314;MRP-L28;MRP-L30;MRPL28;MRPL28M;RPML28 39S ribosomal protein L28, mitochondrial;39S ribosomal protein L30, mitochondrial;L28mt;L30mt;MRP-L30;OTTHUMP00000161222;OTTHUMP00000203467;OTTHUMP00000203469;OTTHUMP00000203471 APPROVED protein-coding ENSG00000241962 14036 14751 611838 REVIEWED 1345591 MRPL34 mitochondrial ribosomal protein L34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 17318207 17319381 + 17277477 17278652 + 17416477 17417652 + 1580863;6480464 11543634;15489334;12706105;12477932;11279069;10600119;20877624;21832049 64981 M0R093;M0R226;Q9BQ48 AB049652;ABBA01051192;AC010463;AMYH01009570;BC000071;BC021801;CH471106;CS072381;NM_023937 AAH00071;AAH21801;ADZ15942;BAB40857;CAI93519;EAW84590;EAW84591;EAW84592;NP_076426;Q9BQ48 Hs.515242 2131851;2217632 Bdy34a04;MRPL34_3082 L34mt;MGC24974;MGC2633 39S ribosomal protein L34, mitochondrial;MRP-L34 APPROVED protein-coding ENSG00000130312 14488 14754 611840 REVIEWED 4144483 MRPL3P1 mitochondrial ribosomal protein L3 pseudogene 1 13 13 13 q12.11 940085 941780 - 18734940 18817113 - 19878205 19879900 - 12706105 359739 ABBA01068552;AL356259;AMYH01004936;AY135256;NG_002855 1758509 SHGC-148527 pseudo 29701 INFERRED 1316034 MRPL35 mitochondrial ribosomal protein L35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 86254688 86268612 + 86280091 86293481 + 86426556 86440477 + 6480464 12477932;11543634;16344560;15489334;12706105;11551941;11042152;7757816;17207965;20877624;21832049 51318 D3YTC1;Q9NZE8 ABBA01075775;AC009309;AF208849;AK026220;AK074352;AK314555;AK314577;AL832982;AMYH01010498;BC020651;BG108475;BQ421154;BQ879834;BU195549;CH471053;DA413384;DA443416;DB245340;F11007;H11039;NM_016622;NM_145644 AAF64263;AAH20651;ADQ32163;BAG37140;BAG37154;CAH56349;EAW99459;EAW99460;EAW99461;NP_057706;NP_663619;Q9NZE8 Hs.433439 1662241;1768672;1796342;1852399;2127587 D2S2907;MRPL35_1401;RH16635;SHGC-36608;WI-21927 L35mt;MRP-L35 39S ribosomal protein L35, mitochondrial;OTTHUMP00000035511;OTTHUMP00000035512;OTTHUMP00000203313 APPROVED protein-coding ENSG00000132313 14489 14755 611841 REVIEWED 1321503 MRPL32 mitochondrial ribosomal protein L32 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008] 7 7 7 p14 42962246 42967760 + 42938464 42943981 + 42971939 42977456 + 1580863;6480464 12446740;11543634;16341674;15489334;14702039;12706105;12690205;12477932;11551941;11279069;8889548;17207965;20877624;22939629;20186120 64983 A4D1V4;B3KQX1;H7BZU9;Q9BYC8 AACC02000040;AB049649;AB051343;ABBA01058178;AC010132;AF161401;AK090551;AK313393;AMYH01017204;BC013147;BM833110;BU687817;CH236951;CH471073;DB456673;NM_031903 AAF28961;AAH13147;ADQ32804;BAB40854;BAB54933;BAG36191;BAG52183;EAL24006;EAW94154;EAW94155;EAW94156;EAW94157;NP_114109;Q9BYC8 Hs.50252 1683180;1787760;1854881;2122589;2122591;2142661;2148204;2217630 GDB:6028662;MRPL33_3249;RH65255;SHGC-173382;SHGC-2530;SHGC-2621;SHGC-32690;SHGC-32714 HSPC283;L32mt;MRP-L32;bMRP-59b 39S ribosomal protein L32, mitochondrial;OTTHUMP00000207368 APPROVED protein-coding ENSG00000106591 14035 14752 611839 REVIEWED 7174919 MRPL40P1 mitochondrial ribosomal protein L40 pseudogene 1 12 q15 67745283 67745821 + 645328 ABBA01026565;AC078983;AMYH01004558;NG_021723 pseudo 44532 INFERRED 1314956 MRPL36 mitochondrial ribosomal protein L36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008] 5 5 5 p15.3 1835163 1836620 - 1851499 1852946 - 1798499 1799956 - 1580863;6480464 11279069;19318571;15489334;12706105;12477932;11543634;11329013;10931946;17207965;20877624;16462773;18624398;21963094 64979 D6RB74;Q9P0J6 AB049654;ABBA01034196;AC026443;AF151109;AF155653;AK312001;AMYH01014864;BC020642;BC104652;BG185418;CH471102;DW465815;EF036487;NG_013354;NM_032479 AAF04788;AAF67010;AAH20642;AAI04653;ABO65073;ADQ32162;BAB40859;BAG34939;EAX08144;EAX08145;NP_115868;Q9P0J6 Hs.719465 1679457 RH41240 BRIP1;L36mt;MGC104245;MRP-L36;PRPL36;RPMJ 39S ribosomal protein L36, mitochondrial;BRCA1-interacting protein 1;OTTHUMP00000115431;OTTHUMP00000220656;OTTHUMP00000220657;OTTHUMP00000220658;OTTHUMP00000220659;putative BRCA1-interacting protein APPROVED protein-coding ENSG00000171421 14490 14756 611842 REVIEWED 1348769 MRPL37 mitochondrial ribosomal protein L37 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 1 1 1 p32.1 52953467 52971687 + 54438428 54456639 + 54665840 54684056 + 724579;6480464 10600119 21145461;11543634;16710414;15562971;15489334;12706105;12477932;11042152;20877624;17207965;17643375;22939629;20186120;18029348;20639865;21900206;21139048;21890473;21906983;22354994 51253 A6NHR2;H0Y4J2;Q9BZE1 AB051344;ABBA01074726;AF151069;AF325707;AI245012;AK024572;AK026171;AL161644;AL357673;AMYH01000632;AY421759;BC000041;CH471059;DQ205685;NM_016491 AAF36155;AAG52881;AAH00041;AAR38839;ABA27099;ADQ31709;BAB54934;EAX06694;EAX06695;EAX06696;EAX06697;EAX06698;NP_057575;Q9BZE1 Hs.584908 L37mt;MGC878;MRP-L2;MRP-L37;MRPL2;RPML2 39S ribosomal protein L2, mitochondrial;39S ribosomal protein L37, mitochondrial;L2mt;OTTHUMP00000009810;ribosomal protein, mitochondrial, L2 APPROVED protein-coding ENSG00000116221 14034 14757 611843 REVIEWED 1354299 MRPL42P1 mitochondrial ribosomal protein L42 pseudogene 1 4 4 4 q26 117478012 117478437 - 120335869 120336294 - 120116421 120116846 - 12706105 285415 ABBA01044703;AC092656;AMYH01014484;AY135266;NG_002665 pseudo 29710 INFERRED 4144688 MRPL42P2 mitochondrial ribosomal protein L42 pseudogene 2 6 6 6 p22.3 17409666 17410094 + 16279816 16280244 + 16171837 16172265 + 12706105 346116 ABBA01022180;AL021407;AMYH01016111;AY135267;NG_002907 pseudo 29711 INFERRED 4144482 MRPL42P3 mitochondrial ribosomal protein L42 pseudogene 3 6 6 6 q24.2 145197917 145198255 + 144499267 144499605 + 144457574 144457912 + 12706105 359746 ABBA01025741;AL031390;AMYH01016723;AY135268;NG_002862 pseudo 29712 INFERRED 4144713 MRPL42P4 mitochondrial ribosomal protein L42 pseudogene 4 7 7 7 p12.3 47166081 47166431 - 47032245 47032595 - 47065720 47066070 - 12706105 346470 AACC02000092;ABBA01058266;AC004870;AMYH01017228;AY135269;CH236958;NG_002908 pseudo 29713 INFERRED 1601918 MRPL42P5 mitochondrial ribosomal protein L42 pseudogene 5 15 15 15 q13.3 17590190 17590856 - 38611375 38612041 - 40824083 40824749 - 12706105;8889548 359821 ABBA01038446;AC091045;AMYH01006563;AY135270;BM979118;NR_002208 Hs.678598 pseudo 29714 VALIDATED 1323408 MRPL4 mitochondrial ribosomal protein L4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 10258038 10266134 + 10223640 10231736 + 10362640 10370736 + 1580863;6480464 16189514;15489334;12706105;12477932;11543634;11279069;10810093;9110174;8619474;20877624;16169070;19773279;22939629;20186120;21139048;21890473;21145461 51073 K7EJ73;K7EKI4;K7ELF1;K7ELQ0;K7ES61;Q9BYD3 AB049635;ABBA01029942;AC011511;AF132962;AI092267;AL561917;AMYH01009467;AMYH01009468;AY007152;BC000756;BC009858;BG325905;BG422689;BG758801;BM550378;CH471106;NM_015956;NM_146387;NM_146388;W38612 AAD27737;AAG02005;AAH00756;AAH09858;BAB40840;EAW84083;EAW84084;EAW84085;NP_057040;NP_666499;NP_666500;Q9BYD3 Hs.279652 1699178;1797882;2131967 MRPL4_2013;RH103169;RH41882 CGI-28;L4mt;MGC16367;MGC2681 39S ribosomal protein L4, mitochondrial;MRP-L4 APPROVED protein-coding ENSG00000105364 14276 14759 611823 REVIEWED 1322502 MRPL38 mitochondrial ribosomal protein L38 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 70484775 70491232 - 71406319 71413069 - 73894724 73901181 - 6480464 14702039;16344560;15489334;12706105;12477932;11543634;11347906;16169070;20562859;17207965;18029348;22939629;21139048;21890473;21628590;22797925 64978 B3KN96;Q96DV4 AB051345;ABBA01028767;AC087289;AF161380;AI126946;AK313283;AMYH01008635;BC013311;BC034460;CH471099;DB289191;NM_032478 AAF28940;AAH13311;ADQ31695;BAB54935;BAG36091;EAW89338;EAW89339;EAW89340;NP_115867;Q96DV4 Hs.442609 1652955;1684206;1689799;1736634;1783574;1787860;2121563;5091927 D17S1475E;RH15963;RH46079;RH78964;RH79813;SHGC-132666;SHGC-155088;SHGC-37061 FLJ13996;HSPC262;KIAA1863;L38MT;MGC4810;MRP-L3;MRP-L38;RPML3 39S ribosomal protein L38, mitochondrial;L38mt;MRP-L38;OTTHUMP00000202830 APPROVED protein-coding ENSG00000204316 14033 14758 611844 REVIEWED 1348143 MRPL39 mitochondrial ribosomal protein L39 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008] 21 21 21 q21.3 12141379 12163216 - 25879839 25901672 - 26957968 26979801 - 1580863;6480464 11167009;15489334;14702039;12706105;12477932;11943462;11543634;10593885;8125298;21145461;19615732;20877624;22939629;20186120;21139048;21890473;21906983;22354994 54148 C9JG87;Q9NYK5 AB051346;ABBA01057210;AF109357;AF239727;AF270511;AK000458;AK225878;AMYH01012174;AP000223;BC004896;BC107719;BE865858;BQ719968;CD368044;CH471079;NM_017446;NM_080794 AAF44696;AAH04896;AAI07720;AAK12856;AAQ13505;BAA91177;BAB54936;EAX09979;EAX09980;EAX09981;EAX09982;NP_059142;NP_542984;Q9NYK5 Hs.420696 1698016 RH102537 C21orf92;FLJ20451;L39mt;MGC104174;MGC3400;MRP-L5;MRPL5;MSTP003;PRED22;PRED66;RPML5 39S ribosomal protein L39, mitochondrial;39S ribosomal protein L5, mitochondrial;L5mt;MRP-L39;OTTHUMP00000095990;OTTHUMP00000095991;OTTHUMP00000095992 APPROVED protein-coding ENSG00000154719 14027 11371 611845 REVIEWED 4144480 MRPL45P1 mitochondrial ribosomal protein L45 pseudogene 1 2 2 2 p11.2 88121118 88121866 + 88445326 88446074 - 88664211 88664959 - 12706105 359747 ABBA01018810;AC012671;AMYH01010628;AY135271;NG_002863 pseudo 29715 INFERRED 1321029 MRPL41 mitochondrial ribosomal protein L41 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 110970573 110971271 + 139566165 139566827 + 140446309 140447007 + 6480464 16024796;16256947;15547950;21253851;21145461;15489334;15164053;12706105;12477932;11551941;11543634;9857009;18029348;20877624;22711503;22939629;20186120;21139048 64975 Q8IXM3 AB051625;ABBA01022777;AI091177;AL365502;AMYH01021911;AY232291;BC040035;BM919526;CH471090;NM_032477 AAH40035;AAP69986;BAB54952;EAW88399;NP_115866;Q8IXM3 Hs.44017 2137659 STS-N29354 BMRP;MRP-L27;MRPL27;PIG3;RPML27 39S ribosomal protein L27 homolog;39S ribosomal protein L41, mitochondrial;L41mt;MRP-L27 homolog;MRP-L41;OTTHUMP00000022696;bcl-2-interacting mitochondrial ribosomal protein L41;cell proliferation-inducing gene 3 protein;proliferation-inducing gene 3 APPROVED protein-coding 14492 14760 611846 REVIEWED 1343765 MRPL40 mitochondrial ribosomal protein L40 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 3272293 3275855 + 17800036 17803598 + 19420036 19423598 + 1580863;6480464 9790763;15489334;15461802;14702039;12706105;12477932;11543634;10226592;9857009;18029348;19615732;20877624;22939629;20186120;21890473 64976 F8WBK5;Q9NQ50 AB051624;ABBA01005411;AC000068;AC000079;AF034091;AJ295637;AK057708;AK123768;AMYH01012479;BC009707;CH471176;CR456532;NG_009231;NM_003776 AAC70904;AAH09707;ABM82381;ABM82579;ABM85559;BAG53959;CAC00535;CAG30418;CAK54563;CAK54862;EAX03042;NP_003767;Q9NQ50 Hs.431307 1685718;1688853;1853952;2125179;2217634;5015619;5016478;5022576;5024039;5037552 D11S3114;D16S325;D1S1361;D8S2279;GDB:434012;MRPL40_2792;RH65277;RH77808;RH80191;WI-21007 FLJ41774;MGC9400;MRP-L22;MRPL22;NLVCF;URIM 39S ribosomal protein L40, mitochondrial;L40mt;MRP-L40;OTTHUMP00000196397;OTTHUMP00000196403;nuclear localization signal containing protein deleted in velocardiofacial syndrome;nuclear localization signal deleted in velocardiofacial syndrome;nuclear localization signal-containing protein deleted in velocardiofacial syndrome;up-regulated in metastasis APPROVED protein-coding 14491 05476 605089 REVIEWED 1312629 MRPL42 mitochondrial ribosomal protein L42 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011] 12 12 12 q22 93531961 93567117 + 92385401 92420563 + 93861266 93897548 + 1302857;1580863;6480464 11279123 18391951;16169070;15489334;14702039;12706105;12477932;11551941;11543634;11230166;11042152;8889548;16344560;8889549;20546612;20877624;22939629;18029348;21890473;22190034 28977 A6NCI0;F8VVR0;J3KP21;J3KPP0;Q9Y6G3 AA211087;AB051626;ABBA01053376;AC025260;AF078860;AF135160;AF151038;AK000285;AL136659;AMYH01004659;AMYH01004660;BC040240;BM147739;BM726733;BU561400;CD385500;CH471054;CR533495;CR749344;DB195199;NM_014050;NM_172177;NR_038159;NR_038160;NR_038161 AAD44492;AAF36124;AAF43784;AAH40240;ACE87546;BAA91054;BAB54953;CAB66594;CAG38526;CAH18197;EAW97483;EAW97484;EAW97485;EAW97486;EAW97487;EAW97488;EAW97489;NP_054769;NP_751917;Q9Y6G3 Hs.628599 1685538;1746533;1797876;2118851;5014063;5123154 D15S1390;G64438;MRPL42_932.2;RH99326;SHGC-56874;STS-N40939 HSPC204;L31MT;L42MT;MRP-L31;MRP-L42;MRP-S32;MRPL31;MRPS32;PTD007;RPML31;S32MT 28S ribosomal protein S32, mitochondrial;39S ribosomal protein L31, mitochondrial;39S ribosomal protein L42, mitochondrial;L31mt;L42mt;MRP-L42;MRP-S32;OTTHUMP00000243091;OTTHUMP00000243092;OTTHUMP00000243093;OTTHUMP00000243096;S32mt;mitochondrial ribosomal protein S32 APPROVED protein-coding ENSG00000198015 14493 14761 611847 REVIEWED 4144667 MRPL45P2 mitochondrial ribosomal protein L45 pseudogene 2 17 17 q21.32 42888849 42924985 - 45527593 45569986 - 12706105;12477932 653479 ABBA01041120;ABBA01041121;ABBA01041122;ABBA01041123;AC040934;AMYH01008447;AMYH01008448;AY135272;BC067758;BC090855;NR_033934 Hs.537279 1683813;2166793;5037552 D17S2098;D8S2279;RH41838 pseudo 29716 VALIDATED 1344176 MRPL48P1 mitochondrial ribosomal protein L48 pseudogene 1 6 6 6 p24.3 11688387 11689299 - 10568125 10568760 - 10459910 10460822 - 12706105 221717 ABBA01022078;AL138885;AMYH01016079;AY135273;NG_002430 2150999 STS-R92700 MRPL48L1;dJ290I10.4 pseudo 21379 INFERRED 1316780 MRPL47 mitochondrial ribosomal protein L47 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 q26.33 177737131 177753312 - 180788947 180805128 - 179306253 179322434 - 1580863;6480464 12706105;12477932;11943462;11551941;20877624;20186120;22939629;20360068;21139048;22318606 57129 Q9HD33 ABBA01058530;AC090425;AMYH01013688;AY212270;BC021575;BC032522;CA428787;CH471052;NM_020409;NM_177988 AAH21575;AAH32522;AAO92749;EAW78394;EAW78395;EAW78396;NP_065142;NP_817125;Q9HD33 Hs.283734 1797880;1849753;2165875 MRPL47_2612;SHGC-77570;STS-N29372 CGI-204;L47mt;MGC45403;MRP-L47;NCM1 39S ribosomal protein L47, mitochondrial;L47mt;MRP-L47;OTTHUMP00000212454;OTTHUMP00000212455;OTTHUMP00000212456;nasopharyngeal carcinoma metastasis-related 1;nasopharyngeal carcinoma metastasis-related protein 1 APPROVED protein-coding ENSG00000136522 16652 14766 611852 REVIEWED 1316878 MRPL43 mitochondrial ribosomal protein L43 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008] 10 10 10 q24.31 96475300 96484994 - 102727569 102737262 - 102737579 102747272 - 1580863;6480464 17353931;11543634;15509589;15489334;14702039;12706105;12477932;11279069;21145461;17207965;20877624;16385451;22939629;20186120;20360068;21139048;19738201;22623428;23402259 84545 A8K4V4;B1AL05;B1AL06;C9J5Q3;H0Y6Y8;H0YBU8;M0R051;Q86XN1 AB049656;ABBA01063212;ABBA01063213;AF086122;AK095556;AK291069;AK300237;AL133215;AMYH01003002;AW513604;BC015905;BC031287;BC041165;BC052639;BC053373;BG620490;BM455058;BU072283;CH471066;NG_011646;NM_032112;NM_176792;NM_176793;NM_176794 AAH15905;AAH31287;AAH41165;AAH52639;AAH53373;ADQ33022;BAB40861;BAC04572;BAF83758;BAG62005;EAW49795;EAW49796;EAW49797;EAW49798;EAW49799;EAW49800;NP_115488;NP_789762;NP_789763;NP_789764;Q8N983 Hs.421848 1661459;1661698;1740033;2124195;2155328;2167592;2218568 A004R30;D10S1629;D10S2273;MRPL43__3690;SHGC-24148;STS-D11794;STS-W80406 MGC17989;MGC48892;bMRP36a 39S ribosomal protein L43, mitochondrial;L43mt;MRP-L43;OTTHUMP00000020303;OTTHUMP00000020304;OTTHUMP00000020305;OTTHUMP00000020306;OTTHUMP00000020307;OTTHUMP00000020308;OTTHUMP00000020309;OTTHUMP00000020310;OTTHUMP00000224653;mitochondrial ribosomal protein bMRP36a APPROVED protein-coding ENSG00000055950 14517 14762 611848 REVIEWED 1342652 MRPL49P2 mitochondrial ribosomal protein L49 pseudogene 2 8 8 8 p22 15196966 15197433 + 16276499 16276966 + 16232128 16232595 + 12706105 346711 ABBA01021595;AC010785;AMYH01018542;AY135275;NG_002836 pseudo 29718 INFERRED 1353682 MRPL5 mitochondrial ribosomal protein L5 14473 1348015 MRPL50P1 mitochondrial ribosomal protein L50 pseudogene 1 2 2 2 p22.3 35787876 35788273 - 35803329 35803726 - 35949825 35950222 - 12706105 351143 ABBA01074943;AC068274;AMYH01010251;AY135276;NG_002841 pseudo 29719 INFERRED 4144461 MRPL49P1 mitochondrial ribosomal protein L49 pseudogene 1 5 5 5 q12.1 60967575 60968112 + 64006437 64006973 + 63970681 63971217 + 12706105 359748 ABBA01048338;AC008854;AMYH01015131;AY135274;NG_002864 pseudo 29717 INFERRED 4144463 MRPL50P2 mitochondrial ribosomal protein L50 pseudogene 2 2 2 2 q34 197934504 197934985 - 203888358 203888839 - 204180113 204180594 - 12706105 359749 ABBA01062609;AC080075;AMYH01011416;AY135277;NG_002865 pseudo 29720 INFERRED 4144478 MRPL50P3 mitochondrial ribosomal protein L50 pseudogene 3 5 5 5 p12 173398454 173398930 + 177704450 177704926 + 177771844 177772320 + 12706105 359750 ABBA01009992;AC136601;AMYH01015941;AY135278;NG_002866 pseudo 29721 INFERRED 1319287 MRPL46 mitochondrial ribosomal protein L46 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 15 15 15 q25.3 65403257 65411181 - 86803714 86811623 - 89002709 89010633 - 1580863;6480464 15489334;15146197;12706105;12477932;11761714;11551941;17207965;20379614;20877624;22939629;20186120;21890473 26589 H0YN64;Q9H2W6 ABBA01052996;AC142401;AF205435;AF210056;AK074053;AK315434;AMYH01006907;BC017883;CH471101;CN309742;NM_022163 AAG33698;AAG43507;AAH17883;ADQ32109;BAB84879;BAG37822;EAX01995;EAX01996;EAX01997;EAX01998;NP_071446;Q9H2W6 Hs.534261 1754173;2108267;2178301;2181922 D15S1261;MRPL46_8022;RH11341;SHGC-132199 C15orf4;LIECG2;MGC22762;P2ECSL 39S ribosomal protein L46, mitochondrial;L46mt;MRP-L46;OTTHUMP00000192922 APPROVED protein-coding ENSG00000259494 1192 14765 611851 REVIEWED 4144477 MRPL50P4 mitochondrial ribosomal protein L50 pseudogene 4 10 10 10 q23.1 54577265 54577743 - 60981163 60981642 - 61311157 61311636 - 12706105 359751 ABBA01019451;AC026391;AMYH01002767;AY135279;NG_002867 pseudo 29722 INFERRED 1344793 MRPL51P1 mitochondrial ribosomal protein L51 pseudogene 1 4 4 4 p15.2 27874044 27874306 - 27033653 27033915 - 27424555 27424817 - 12706105 351773 ABBA01032735;AC006568;AMYH01014082;AY135280;NG_002843 pseudo 29723 INFERRED 1352102 MRPL51P2 mitochondrial ribosomal protein L51 pseudogene 2 21 21 21 q22.3 29687989 29688620 - 43408513 43408888 - 44535326 44535957 - 12706105 343819 ABBA01004514;AMYH01012275;AP001631;AY135281;NG_002834 pseudo 29724 INFERRED 1319960 MRPL44 mitochondrial ribosomal protein L44 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 218588038 218598347 + 224530378 224540668 + 224822121 224832431 + 1580863;6480464 17353931;16169070;15489334;14702039;12706105;12477932;11551941;21145461;16712791;20877624;22939629;17342744;20186120;21900206;21139048;21906983;22354994 65080 Q9H9J2 AA814344;ABBA01023779;AC073641;AK022763;AK024052;AK095007;AL703412;AMYH01011524;BC012058;BG699238;CB132022;CH471063;CR457293;NM_022915 AAH12058;AAY14925;ADZ15557;BAB14234;BAB14802;CAG33574;EAW70819;EAW70820;NP_075066;Q9H9J2 Hs.203559 1651988;1696010;1698502;1698572;1797878;1856144;2140953;5020948;5022200;5022651;5037552;5109281 D11S2921;D1S1425;D2S431;D8S2279;G35510;L18426;MRPL44_1828;RH102801;RH102838;RH12342;SHGC-32172;SHGC-82778 FLJ12701;FLJ13990;FLJ37688;L44MT;MRP-L44 39S ribosomal protein L44, mitochondrial;OTTHUMP00000164216 APPROVED protein-coding ENSG00000135900 16650 14763 611849 REVIEWED 1312625 MRPL45 mitochondrial ribosomal protein L45 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013] 17 17 17 q21.2 33135785 33138385 + 33706517 33732628 + 36452989 36479101 + 1580863;6480464 21145461;15489334;14702039;12706105;12477932;11551941;8125298;18029348;19615732;20562859;20877624;15342556;8889548;22939629;20186120;20972266;21139048;21890473;22904065;23000965;23535730 84311 J3KSS2;J3KT99;J3QSH3;Q9BRJ2 ABBA01010524;ABBA01031930;ABBA01031931;ABBA01031932;ABBA01031933;ABBA01031934;AC021317;AC115992;AC183084;AK172741;AK225031;AK293605;AMYH01008362;BC006235;BC105297;BC130382;BC130384;BF240534;BG719833;BG761720;BP374871;CB244005;CH471152;NM_001278279;NM_032351 AAI05298;AAI30383;AAI30385;ADR83119;BAD18730;BAG57069;EAW60511;NP_001265208;NP_115727;Q9BRJ2 Hs.537279;Hs.744110 1796344;2153641 MRPL45_1285;RH66148 L45mt;MGC11321;MRP-L45 39S ribosomal protein L45, mitochondrial;L45mt;MRP-L45;OTTHUMP00000164156 APPROVED protein-coding ENSG00000174100 16651 14764 611850 REVIEWED 4144460 MRPL53P1 mitochondrial ribosomal protein L53 pseudogene 1 1 1 1 p13.2 111399017 111399370 - 112970017 112970370 - 113168494 113168847 - 12706105 359752 ABBA01068413;AL929470;AMYH01000949;AY135282;NG_002868 pseudo 29725 INFERRED 1320522 MRPL49 mitochondrial ribosomal protein L49 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011] 11 11 11 q13 62216028 62221142 + 64646304 64651417 + 64889655 64894841 + 1580863;6480464 15489334;14702039;12706105;12477932;11551941;8786148;21145461;16344560;20877624;20601428;21832049;22939629;20186120;22354994;21139048;21628590 740 E9PI78;E9PNF1;E9PRD2;H0YDP7;Q13405 AB062395;AB209160;ABBA01024135;ABBA01024136;AK123252;AK129795;AK129986;AK311821;AMYH01003716;AP003068;BC004378;BG250495;CH471076;DA158218;DA162786;DA484303;NM_004927;NR_037567;NR_037568;U39400 AAB18826;AAH04378;BAB93482;BAD92397;BAG34763;EAW74354;EAW74355;EAW74356;NP_004918;Q13405 Hs.75859 1650582;1676392;1690588;1796346;2154849;2176473;2184180;2189497;5015861;5017227;5022425;5037552;5126495;7185938 D10S16;D11S1963;D22S296;D8S2279;FAU;G38154;MARC_7557-7558:992008497:1;MRPL49_934;RH11613;RH18051;RH70124;RH70269;RH93189 C11orf4;L49mt;MGC10656;MRP-L49;NOF;NOF1 39S ribosomal protein L49, mitochondrial;MRP-L49;OTTHUMP00000230438;OTTHUMP00000230439;OTTHUMP00000230440;neighbor of FAU;next to FAU APPROVED protein-coding ENSG00000149792 1176 06037 606866 REVIEWED 1316849 MRPL48 mitochondrial ribosomal protein L48 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 70805836 70882576 + 73176009 73253304 + 73498917 73575656 + 1580863;6480464 18324346;16344560;16341674;15489334;12706105;12477932;11551941;10810093;8889548;17207965;20877624;20601428;21832049;22939629;20186120;21139048;21890473;23251661 51642 B4DN34;F5GWB4;F5GZH8;F5H1H7;F5H1L2;F5H471;F5H4A2;F5H702;F5H717;F5H8D0;Q96GC5 ABBA01017503;ABBA01017504;ABBA01017505;AF151876;AF161408;AK297746;AK309219;AK310005;AMYH01003810;AMYH01003811;AP002770;BC009764;BC036501;BM817807;BM828996;BU932890;CF529680;CF541319;CH471076;DA549653;NM_016055 AAD34113;AAF28968;AAH09764;ADQ33160;BAG60096;EAW74913;NP_057139;Q96GC5 Hs.503239 1298156;1649516;1657870;1675235;1683190;1855792;2143684;2150999;5014051;5015619;5015961;5016596;5020946;5037552;7183193 D11S2371;D11S3114;D11S4347;D15S1477;D6S351E.1;D8S2278;D8S2279;G29174;GDB:631802;L17971;RH45801;SGC30666;SHGC-53344;STS-R92700 CGI-118;FLJ17047;FLJ99260;HSPC290;L48MT;MGC13323;MRP-L48 39S ribosomal protein L48, mitochondrial;OTTHUMP00000237698;OTTHUMP00000237707 APPROVED protein-coding 16653 14767 611853 REVIEWED 1350310 MRPL6 mitochondrial ribosomal protein L6 14474 1346687 MRPL8 mitochondrial ribosomal protein L8 14475 1317530 MRPL50 mitochondrial ribosomal protein L50 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 74665854 74674524 - 103192070 103200717 - 104152249 104160919 - 6480464 15489334;15164053;15146197;14702039;12706105;12477932;11551941;21145461;20877624;22939629;20186120;20972266;21139048;21890473 54534 B7Z358;Q8N5N7 ABBA01042874;AK000500;AL353621;AMYH01021579;BC032008;CH471105;CN388719;NM_019051 AAH32008;ADZ15708;BAA91207;EAW58948;NP_061924;Q8N5N7 Hs.288224 1650833;1796348 D9S950;MRPL50_1526 FLJ20493;FLJ21990;MRP-L50 39S ribosomal protein L50, mitochondrial;L50mt;OTTHUMP00000021811;mitochondrial 39S ribosomal protein L50 APPROVED protein-coding 16654 14768 611854 REVIEWED 1315444 MRPL51 mitochondrial ribosomal protein L51 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008] 12 12 12 p13.3-p13.1 8218232 8219387 - 6471577 6472718 - 6601316 6602471 - 6480464 15489334;12706105;12477932;11551941;11543634;11402041;11042152;20877624;20601428;22939629;20186120;21139048 51258 M0R176;Q4U2R6 AB049959;AB051355;ABBA01017642;AC006064;AF151075;AF212248;AMYH01004203;BC000191;BC014329;BI856229;CH471116;NM_016497 AAF36161;AAH00191;AAH14329;AAK14931;BAB41012;BAB54944;EAW88791;NP_057581;Q4U2R6 Hs.55847 1683525;5124893 RH25377;RH93703 CDA09;HSPC241;MRP64;bMRP64 39S ribosomal protein L51, mitochondrial;L51mt;MRP-L51;OTTHUMP00000238892;bMRP-64;mitochondrial ribosomal protein 64;mitochondrial ribosomal protein bMRP64 APPROVED protein-coding 14044 14769 611855 REVIEWED 1350720 MRPS1 mitochondrial ribosomal protein S1 1302857 11279123 11943462 14494 1353849 MRPL9P1 mitochondrial ribosomal protein L9 pseudogene 1 8 8 8 q21.11 73508482 73509503 - 77677517 77678742 - 77515060 77516081 - 12706105 137290 ABBA01041996;AC011716;AMYH01018805;NG_001539 pseudo 29726 INFERRED 1604465 MRPS10P1 mitochondrial ribosomal protein S10 pseudogene 1 1 1 1 q23.2 143069028 143069158 + 168225840 168225970 + 169959216 169959346 + 12706105 359753 ABBA01027945;AL121714;AMYH01001490;AY135284;NG_002869;NG_012883 pseudo 29728 INFERRED 1604163 MRPS10P2 mitochondrial ribosomal protein S10 pseudogene 2 3 3 3 p26 4394166 4394569 - 4431244 4431647 - 4456244 4456647 - 12706105 359802 ABBA01020470;AC024168;AMYH01012948;AY135285;AY135286;AY135287;NG_002903;NG_016225 MRPS10P3;MRPS10P4 pseudo 29727 INFERRED 1604464 MRPS10P5 mitochondrial ribosomal protein S10 pseudogene 5 9 9 9 p12 37769014 37769592 - 37825818 37826396 - 37835818 37836396 - 12706105 359754 ABBA01050386;AL138752;AMYH01019361;AY135288;NG_002870 1676878;1689079 RH65217;RH69970 pseudo 29729 INFERRED 1315480 MRPL53 mitochondrial ribosomal protein L53 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 74530297 74531115 - 74552617 74553435 - 74699085 74699942 - 6480464 15489334;12706105;12477932;11551941;11329013;19615732;8889548;21832049;22939629 116540 B9A051;Q96EL3 ABBA01075602;AC005041;AMYH01010454;BC012163;BG196300;BQ014848;BQ688110;CH471053;NM_053050 AAH12163;EAW99651;NP_444278;Q96EL3 Hs.534527 2163258 RH46364 FLJ90728;L53MT;MGC20402 39S ribosomal protein L53, mitochondrial;L53mt;MRP-L53;OTTHUMP00000160421 APPROVED protein-coding 16684 14771 611857 REVIEWED 1346551 MRPS11P1 mitochondrial ribosomal protein S11 pseudogene 1 20 20 20 p11.23 20908548 20909362 - 20782565 20783383 - 20834474 20835288 - 12706105 128774 ABBA01054095;AL109953;AMYH01011766;AY135289;NG_000977 dJ746H2.1 pseudo 16584 INFERRED 1319568 MRPL52 mitochondrial ribosomal protein L52 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3161975 3167132 + 22368936 22374086 + 23299092 23304246 + 6480464 16344560;16341674;15489334;14702039;12706105;12477932;11943462;11551941;18029348;20877624;21832049;22939629 122704 A6NLB9;A8MXK5;G3V3U6;G3V4H9;G3V4J1;G5E9P5;Q86TS9 AA282746;AA282747;ABBA01061285;ABBA01061286;AI380351;AK000450;AK096946;AK292011;AL135998;AMYH01005599;BC055381;BC068070;BG714882;BG716120;BQ082981;BU600884;BX248749;CH471078;DA917052;NM_178336;NM_180982;NM_181304;NM_181305;NM_181306;NM_181307 AAH68070;BAF84700;CAD66556;EAW66238;EAW66239;EAW66240;EAW66241;EAW66242;EAW66243;EAW66244;NP_848026;NP_851313;NP_851821;NP_851822;NP_851823;NP_851824;Q86TS9 Hs.355935 1699456;5015861;5015961;7185938 D10S16;D15S1477;RH103319 39S ribosomal protein L52, mitochondrial;L52mt;MRP-L52;OTTHUMP00000027916;OTTHUMP00000164489;OTTHUMP00000164490;OTTHUMP00000245871;OTTHUMP00000245874;OTTHUMP00000245875;OTTHUMP00000245876;OTTHUMP00000245878;OTTHUMP00000245881 APPROVED protein-coding ENSG00000172590 16655 14770 611856 REVIEWED 1342933 MRPS13 mitochondrial ribosomal protein S13 1302857 11279123 11943462 14503 1313872 MRPL54 mitochondrial ribosomal protein L54 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3700310 3705207 + 3713665 3718563 + 3762665 3767563 + 6480464 15489334;12706105;12477932;11551941;7566098;17207965;20877624;16341674;22939629;20186120;21628590 116541 K7ENN2;Q6P161 AA340000;ABBA01002841;ABBA01002842;ABBA01002843;AC005777;AC005954;AMYH01009317;BC065273;BF346319;BM792364;BQ061807;CH471139;NM_172251 AAH65273;ADQ33121;EAW69289;NP_758455;Q6P161 Hs.356578 1724915 RH119224 L54mt;MRP-L54 39S ribosomal protein L54, mitochondrial APPROVED protein-coding ENSG00000183617 16685 14772 611858 REVIEWED 1317775 MRPL55 mitochondrial ribosomal protein L55 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201484612 201487245 - 226361003 226363627 - 228294380 228297013 - 6480464 17567985;16710414;15489334;14702039;12975309;12706105;12477932;11943462;11551941;10737800;8889548;17207965;20877624;22939629;20186120 128308 Q7Z7F7 AA479904;ABBA01005830;AI301403;AK056987;AL136379;AMYH01001791;AY358771;BC052806;BF945771;BG475759;BI458525;BM706934;BM975134;BP871687;BQ012917;BQ684146;BQ771735;BQ920610;BU594505;BU597178;BU601595;BU956146;BX647745;CB529047;CH471098;CV572808;NM_181441;NM_181454;NM_181455;NM_181456;NM_181462;NM_181463;NM_181464;NM_181465 AAH52806;AAQ89131;ADQ33097;EAW69840;EAW69841;EAW69842;EAW69843;EAW69844;EAW69845;EAW69846;EAW69847;EAW69848;EAW69849;NP_852106;NP_852119;NP_852120;NP_852121;NP_852127;NP_852128;NP_852129;NP_852130;Q7Z7F7 Hs.63236 AAVG5835;DKFZp686D1387;L55nt;MGC61802;MRP-L55;PRO19675 39S ribosomal protein L55, mitochondrial;L55mt;OTTHUMP00000036076;OTTHUMP00000036077;OTTHUMP00000036125;OTTHUMP00000037488;OTTHUMP00000037490;OTTHUMP00000037491;OTTHUMP00000037492;OTTHUMP00000037493;OTTHUMP00000037494;OTTHUMP00000037495;OTTHUMP00000037496;OTTHUMP00000037497;OTTHUMP00000037498;OTTHUMP00000037499;OTTHUMP00000037500;OTTHUMP00000037501;OTTHUMP00000037502;OTTHUMP00000037503 APPROVED protein-coding ENSG00000162910 16686 14773 611859 REVIEWED 4144462 MRPS15P1 mitochondrial ribosomal protein S15 pseudogene 1 15 15 15 q22 50654137 50654892 - 71562584 71563339 - 73775531 73776286 - 12706105 359755 ABBA01038710;AC009660;AMYH01006776;AY135290;NG_002871 pseudo 29730 INFERRED 4144458 MRPS15P2 mitochondrial ribosomal protein S15 pseudogene 2 19 19 19 q13.32 41598874 41599166 + 49486034 49487011 + 44794791 44795083 + 12706105 359756 ABBA01040876;AC138473;AMYH01009842;AY135291;NG_002872 1783774;1783858 SHGC-106960;SHGC-84207 pseudo 29731 INFERRED 1350314 MRPL9 mitochondrial ribosomal protein L9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 8q21.11. [provided by RefSeq, Jul 2008] 1 1 1 q21 124846736 124850653 - 149998747 150002664 - 151732123 151736040 - 1580863;6480464 11543634;16710414;15489334;12706105;12477932;11551941;11279069;21145461;20532202;16169070;18029348;20877624;22939629;20186120;21139048 65005 Q5SZR1;Q9BYD2 AB049636;ABBA01049404;AK026363;AK293401;AK300668;AK309841;AK315459;AL589765;AMYH01001394;BC004517;BG437768;CH471121;NM_031420 AAH04517;BAB40841;BAG37846;BAG56908;BAG62353;EAW53415;EAW53416;NP_113608;Q9BYD2 Hs.288936 1673620;2120834;2217636 MRPL9_3052;RH35887;SHGC-34368 L9mt 39S ribosomal protein L9, mitochondrial;MRP-L9;OTTHUMP00000015264;OTTHUMP00000015265 APPROVED protein-coding ENSG00000143436 14277 14774 611824 REVIEWED 1351805 MRPS16P1 mitochondrial ribosomal protein S16 pseudogene 1 8 8 8 q21.3 89116097 89116512 + 92998911 92999326 + 92929735 92930150 + 12706105 137406 ABBA01037421;AC103680;AMYH01018880;AY135292;NG_002648 1663069 SHGC-64138 pseudo 29732 INFERRED 1349830 MRPS16P2 mitochondrial ribosomal protein S16 pseudogene 2 20 20 20 q13.32 54428568 54429425 + 57121574 57122184 + 57688130 57688987 + 12706105 128609 ABBA01005967;AL136532;AMYH01012024;AY135293;NG_000968 MRPS16P;bA379F14.1 APPROVED pseudo 16541 INFERRED 1348362 MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 22 22 22 q12.3 19903719 19904128 + 34429758 34430167 + 36099812 36100221 + 12706105 338388 ABBA01055424;AL049748;AMYH01012746;AY135294;NG_002649 pseudo 29733 INFERRED 1323017 MRPS10 mitochondrial ribosomal protein S10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43726978 43738077 - 42282517 42293581 - 42174539 42185633 - 1302857;1580863;6480464 11279123 15489334;14702039;14574404;12706105;12477932;11827452;10938081;17207965;18029348;20877624;22939629;20186120;21139048;19322201 55173 P82664;Q9BZS5 ABBA01050732;ABBA01050733;AF113220;AF277180;AI683142;AI754661;AK001429;AK098446;AK298219;AK316599;AL096814;AMYH01016302;AW300686;AW974308;BC012560;BG776014;CH471081;NM_018141 AAG39291;AAH12560;AAK07539;ADQ32446;BAA91686;BAG38186;BAG60489;EAX04086;EAX04087;NP_060611;P82664 Hs.380887;Hs.669022 1658035;1676878;1689079;1689312;1796350;2163203;5022649;5037552 A002P30;D11S2875;D8S2279;MRPS10_1279;RH46712;RH65217;RH69970;WI-16584 FLJ10567;MRP-S10;PNAS-122 28S ribosomal protein S10, mitochondrial;OTTHUMP00000016395;S10mt;mitochondrial 28S ribosomal protein S10 APPROVED protein-coding ENSG00000048544 14502 14775 611976 REVIEWED 1314714 MRPS12 mitochondrial ribosomal protein S12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008] 19 19 19 q13.1-q13.2 36223777 36226089 + 44113188 44115500 + 39421348 39423660 + 1580863;6480464 12970870;9545647;18790094;16169070;15489334;12706105;12477932;11543634;11402041;11279123;10542210;9790755;9434165;12646258;19439209;20877624;21139048;21890473 6183 O15235 ABBA01040710;AC011455;AF058761;AI168197;AMYH01009789;BC001617;BC006424;BC007499;CH471126;CR407609;NG_029222;NG_031865;NM_021107;NM_033362;NM_033363;Y11681 AAC64704;AAH01617;AAH06424;AAH07499;CAA72377;CAG28537;EAW56849;EAW56850;EAW56851;EAW56852;NP_066930;NP_203526;NP_203527;O15235 Hs.411125 1688881;1778792;1797884;5094910 MRPS12;MRPS12_1782;RH15855;RH39132 MPR-S12;MT-RPS12;RPMS12;RPS12;RPSM12 28S ribosomal protein S12, mitochondrial;MRP-S12;S12mt;ribosomal protein, mitochondrial, S12 APPROVED protein-coding ENSG00000128626 10380 04316 603021 REVIEWED 1604162 MRPS17P1 mitochondrial ribosomal protein S17 pseudogene 1 1 1 1 p34 43740139 43740715 - 45230090 45230482 - 45457349 45457925 - 12706105 359803 ABBA01050896;AL136380;AMYH01000569;AY135295;AY135296;NG_004092 MRPS17P2 pseudo 29734 INFERRED 1350817 MRPS11 mitochondrial ribosomal protein S11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Sequence analysis identified two transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q25 65411232 65422043 + 86811688 86822499 + 89010684 89021861 + 1580863;6480464 15300802;15489334;14702039;12706105;12477932;11543634;11402041;11279123;8125298;21145461;20877624;22939629;20186120;21139048;21890473 64963 H0YL99;P82912 AB049944;AB051349;ABBA01052996;AC013489;AC142401;AF320777;AK026165;AK027059;AK222933;AK223152;AK315407;AMYH01006907;BC000200;BC009451;BC012489;BC032378;CH471101;CX163380;NM_022839;NM_176805 AAH09451;AAH12489;AAH32378;AAK97314;ABM82512;ABM85706;BAB15381;BAB40997;BAB54939;BAD96653;BAD96872;BAG37799;EAX01999;EAX02000;EAX02001;EAX02002;NP_073750;NP_789775;P82912 Hs.111286 1794380;2139103;2140773;2182331;5037552 D8S2279;PMC311040P9;RH77830;STS-AA035504;WI-15965 FLJ22512;FLJ23406;HCC-2 28S ribosomal protein S11, mitochondrial;MRP-S11;OTTHUMP00000192916;OTTHUMP00000192917;S11mt;cervical cancer proto-oncogene 2 protein APPROVED protein-coding ENSG00000181991 14050 14776 611977 REVIEWED 4144456 MRPS17P3 mitochondrial ribosomal protein S17 pseudogene 3 3 3 3 p12.1 79316764 79317152 + 78656943 78657331 + 78574253 78574641 + 12706105 359757 ABBA01031019;AC112508;AMYH01013300;AY135297;NG_002873 pseudo 29736 INFERRED 4144457 MRPS17P5 mitochondrial ribosomal protein S17 pseudogene 5 6 6 6 q22.33 128973219 128973404 + 128272669 128272854 + 128230976 128231161 + 12706105 359758 ABBA01025926;AL035470;AMYH01016659;AY135299;NG_002874;NG_016226 pseudo 29737 INFERRED 4144459 MRPS17P6 mitochondrial ribosomal protein S17 pseudogene 6 14 14 14 p11 1624873 1625083 + 20829238 20829448 + 21759398 21759742 + 12706105 359759 ABBA01061242;AL135744;AMYH01005595;AY135300;NG_002875;NG_008933 pseudo 29738 INFERRED 4144454 MRPS17P9 mitochondrial ribosomal protein S17 pseudogene 9 X X X q24 118968370 118968955 + 118397703 118398095 + 118513650 118514235 + 12706105 359760 ABBA01036690;AC004973;AMYH01022880;AY135303;NG_002876 pseudo 29739 INFERRED 1604703 MRPS17P7 mitochondrial ribosomal protein S17 pseudogene 7 18 18 18 q21.31 52148565 52149063 - 53582026 53582418 - 55430952 55431450 - 12706105 342776 ABBA01056140;AC022724;AMYH01009025;AY135298;AY135301;AY135302;NG_004091;NG_007148 MRPS17P4;MRPS17P8 pseudo 29735 INFERRED 1319772 MRPS14 mitochondrial ribosomal protein S14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 1 1 1 q25.1 148092797 148102230 - 173249751 173259184 - 174982094 174992591 - 1580863;6480464 10938081;16710414;15489334;12706105;12477932;11543634;11279123;17353931;16344560;20877624;19615732;22939629;20186120;18029348 63931 F2Z361;O60783 AB051350;ABBA01027873;AI086885;AK310915;AK311759;AL049705;AMYH01001514;BC009788;BE882322;CB957578;CH471067;DA610441;NM_022100;NR_037606;Z99127;Z99297 AAH09788;BAB54940;BAG34702;CAB41269;EAW90984;EAW90985;NP_071383;O60783 Hs.654858 1663412;1771323;1771325;2166519;2217638 MRPS14_2961;RH78988;RH79094;SHGC-36175;SHGC-37552 DJ262D12.2;HSMRPS14;MRP-S14;S14mt 28S ribosomal protein S14, mitochondrial;OTTHUMP00000032803;S14mt;mitochondrial 28S ribosomal protein S14 APPROVED protein-coding ENSG00000120333 14049 14777 611978 REVIEWED 4144455 MRPS18BP1 mitochondrial ribosomal protein S18B pseudogene 1 1 1 1 q41 189598755 189598946 - 214441600 214441791 - 216374400 216375168 - 12706105 359762 ABBA01048123;AC138024;AMYH01001729;AY135305;NG_002878;NG_009497 pseudo 29741 INFERRED 4144452 MRPS18AP1 mitochondrial ribosomal protein S18A pseudogene 1 3 3 3 p21.31 48248095 48249004 - 48272841 48273432 - 48297530 48298439 - 12706105 359761 ABBA01024652;AC104190;AMYH01013149;AY135304;NG_002877 pseudo 29740 INFERRED 4144453 MRPS18BP2 mitochondrial ribosomal protein S18B pseudogene 2 2 2 2 q22.1 134137728 134138503 + 140142574 140143349 + 140426104 140426879 + 12706105 359763 ABBA01028113;AC012497;AMYH01011133;AY135306;NG_002879 pseudo 29742 INFERRED 1351675 MRPS18CP2 mitochondrial ribosomal protein S18C pseudogene 2 8 8 8 p23.1 7919460 7919752 - 8828638 8828930 - 8791228 8791520 - 18154640;12706105 286043 ABBA01026913;AC087763;AMYH01018464;AY135308;NG_002666 1787832 SHGC-173515 pseudo 29743 INFERRED 4144449 MRPS18CP3 mitochondrial ribosomal protein S18C pseudogene 3 8 8 8 p21.3 16910272 16910500 + 17988662 17988890 + 17944386 17945198 + 12706105 359764 ABBA01021575;AC124242;AMYH01018550;AY135309;NG_002880;NG_008985 pseudo 29744 INFERRED 1344844 MRPS18CP4 mitochondrial ribosomal protein S18C pseudogene 4 12 12 12 p13.31 19534949 19535012 + 14390195 14390258 + 14390195 14390258 + 12706105 349842 ABBA01067869;AC092112;AMYH01004300;AY135310;NG_002839 pseudo 29745 INFERRED 4144451 MRPS18CP5 mitochondrial ribosomal protein S18C pseudogene 5 15 15 15 q11.2 4335000 4335430 - 23724386 23724816 - 26173293 26173723 - 12706105 359765 ABBA01048700;AC044913;AMYH01006486;AY135311;NG_002881 pseudo 29746 INFERRED 1349276 MRPS18CP6 mitochondrial ribosomal protein S18C pseudogene 6 22 22 22 q13.31 28791226 28791510 - 43258029 43258271 - 44879324 44879608 - 12706105 343901 ABBA01017867;AMYH01012837;AY135312;NG_002835;Z81308 pseudo 29747 INFERRED 1345475 MRPS19 mitochondrial ribosomal protein S19 1302857 11279123 11943462 14506 1347502 MRPS15 mitochondrial ribosomal protein S15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 35197145 35205823 - 36693960 36702556 - 36921362 36930040 - 1580863;6480464 8889548;11279123;15489334;14702039;12706105;12477932;11543634;11402041;21145461;18029348;20877624;21441570;19427859;20186120;21139048;21693764;21906983 64960 P82914;Q59EA6 AB049946;AB209905;ABBA01023295;AC119675;AF265439;AK021626;AK125230;AK302633;AK315441;AMYH01000497;BC031336;BF310592;BM048518;BU927793;CF123360;CH471059;NM_031280 AAG44697;AAH31336;BAB40999;BAD93142;BAG37829;BAG63875;EAX07359;EAX07360;EAX07361;EAX07362;EAX07363;NP_112570;P82914 Hs.352839 1647500;1648606;2120180;5015619;5016596;5022200;5037552 D11S3114;D8S2279;GDB:631802;L18426;RH41915;SHGC-74604;WI-15156 DC37;FLJ11564;MPR-S15;RPMS15;S15mt 28S ribosomal protein S15, mitochondrial;MRP-S15;OTTHUMP00000009727 APPROVED protein-coding ENSG00000116898 14504 11372 611979 REVIEWED 1347127 MRPS20 mitochondrial ribosomal protein S20 1302857 11279123 11943462 14507 1316964 MRPS17 mitochondrial ribosomal protein S17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008] 7 7 7 p11 67073035 67076458 + 55987105 55990528 + 56019611 56023034 + 1580863;6480464 21628590;11279123;17081983;15489334;12706105;12477932;11543634;11402041;11181995;11042152;9653160;20877624;20186120;12938929;21139048;21890473 51373 E9PE17;Q9Y2R5 AB049950;AB051352;ABBA01061842;AC092579;AF077035;AK026553;AMYH01017277;BC037405;BC047445;BC054031;CH471140;NM_015969 AAD27768;AAH37405;AAH47445;AAH54031;BAB41003;BAB54942;EAX07962;EAX07963;NP_057053;Q9Y2R5 Hs.44298 1650632;5022200;5022450;5022651;5024187;5037552;5093344 A009L41;D10S275;D11S2921;D8S2279;G32664;L18426;L29710 HSPC011;MRP-S17;RPMS17;S17mt 28S ribosomal protein S17, mitochondrial;OTTHUMP00000159737;OTTHUMP00000209315;S17mt APPROVED protein-coding 14047 14779 611980 REVIEWED 1321233 MRPS16 mitochondrial ribosomal protein S16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 68294224 68298074 - 74678607 74682457 - 75008601 75012451 - 1580863;6480464;7240710 11279123;18539099;15505824;15489334;14702039;12706105;12477932;11543634;11402041;10810093;21145461;17207965;20877624;16385451;19807034;19945174;22939629;20186120;21890473;19322201;16498633 51021 A6ND22;B4E032;Q9Y3D3 AB049948;AB051351;ABBA01020332;AC016394;AF151890;AK025715;AK098291;AMYH01002827;BC021106;BQ441549;CH471083;NG_008096;NM_016065 AAD34127;AAH21106;ADQ32537;BAB41001;BAB54941;EAW54487;NP_057149;Q9Y3D3 Hs.180312 1663069;1699268;1848095;5022200;5037552 D8S2279;L18426;RH103216;SHGC-64138;STS-T51233 CGI-132;COXPD2;FLJ22062;FLJ40972;MRP-S16;RPMS16 28S ribosomal protein S16, mitochondrial;OTTHUMP00000019801;S16mt APPROVED protein-coding ENSG00000182180 14048 14778 609204;610498 REVIEWED 1604463 MRPS21P2 mitochondrial ribosomal protein S21 pseudogene 2 1 1 1 q22 130902101 130902578 + 156097611 156097874 + 157830929 157831406 + 12706105 359766 ABBA01016636;AL139409;AMYH01001443;AY135314;NG_002882 pseudo 29749 INFERRED 1604462 MRPS21P3 mitochondrial ribosomal protein S21 pseudogene 3 1 1 1 q31.2 170458208 170458833 + 195599570 195599833 + 197332717 197333342 + 12706105 359767 ABBA01027592;AL513325;AMYH01001620;AY135315;NG_002883;NG_008483 pseudo 29750 INFERRED 1604461 MRPS21P4 mitochondrial ribosomal protein S21 pseudogene 4 9 9 9 p13.1 36343766 36343910 + 36400487 36400631 + 36410487 36410631 + 12706105 359768 ABBA01050429;AL354935;AMYH01019348;AY135316;NG_002884 pseudo 29751 INFERRED 1604460 MRPS21P5 mitochondrial ribosomal protein S21 pseudogene 5 10 10 10 p12.1 28056998 28057267 + 28333601 28333870 + 28293595 28293864 + 12706105 359769 ABBA01034380;AL390866;AMYH01002208;AY135317;NG_002885 pseudo 29752 INFERRED 1604459 MRPS21P6 mitochondrial ribosomal protein S21 pseudogene 6 10 10 10 q26 120628871 120629343 + 126845236 126845499 + 126855188 126855665 + 12706105 359770 ABBA01034164;AL157888;AMYH01003161;AY135318;NG_002886 1850358 SGC32664 pseudo 29753 INFERRED 1604458 MRPS21P7 mitochondrial ribosomal protein S21 pseudogene 7 16 16 16 q12.1 34254960 34255219 + 48299413 48299672 + 49741912 49742171 + 12706105 359771 ABBA01000890;AC027348;AMYH01007654;AY135319;NG_002887;NG_032972 pseudo ENSG00000260024 29754 INFERRED 1344442 MRPS21P8 mitochondrial ribosomal protein S21 pseudogene 8 16 16 16 q12.1 34311427 34311686 + 48355865 48356124 + 49798364 49798623 + 12706105 350297 ABBA01000890;AC027348;AMYH01007654;AY135320;NG_002840;NG_032972 pseudo 29755 INFERRED 1342901 MRPS21P1 mitochondrial ribosomal protein S21 pseudogene 1 1 1 1 p31.3 63848617 63849100 - 65330625 65330886 - 65557885 65558368 - 12706105 199900 ABBA01074549;AL357078;AMYH01000683;AY135313;NG_002663 pseudo 29748 INFERRED 1604457 MRPS21P9 mitochondrial ribosomal protein S21 pseudogene 9 17 17 17 q21 44989126 44989391 - 45882829 45883095 - 48527830 48528096 - 12706105 359772 ABBA01041240;AC021491;AMYH01008472;AY135321;NG_002888 pseudo 29756 INFERRED 4144447 MRPS22P1 mitochondrial ribosomal protein S22 pseudogene 1 X X X q21.31 87302912 87303372 - 86950938 86951394 - 87064282 87064738 - 12706105 359773 ABBA01051934;AL136363;AMYH01022673;AY135322;NG_002889 pseudo 29757 INFERRED 1349132 MRPS18B mitochondrial ribosomal protein S18B Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 32183604 32192292 + 30693585 30702148 + 30585486 30594174 + 1302857;1580863;6480464 11279123 17353931;18391203;16702430;16189514;15489334;15342556;12706105;12477932;11402041;11042152;21145461;19851445;20877624;22939629;16196087;20186120;20360068;21139048;23455922 28973 B0S7P4;B4DFG6;Q9Y676 AB110933;AB110934;AB202094;ABBA01038051;AF100761;AF151017;AK294086;AK311890;AL050361;AL662800;AL662825;AL732442;AL845353;AMYH01016205;BC005373;BE220785;BG773408;BP369345;BX119957;BX248507;BX908728;CH471081;CR753328;CR759778;NM_014046 AAD43025;AAF36103;AAH05373;BAD13699;BAD13700;BAE78614;BAG34831;BAG57427;CAH56415;EAX03304;EAX03305;NP_054765;Q9Y676 Hs.655329 1697858 RH102456 C6orf14;DKFZp564H0223;HSPC183;HumanS18a;MRP-S18-2;MRPS18-2;PTD017;S18amt 28S ribosomal protein S18-2, mitochondrial;28S ribosomal protein S18b, mitochondrial;MRP-S18-b;OTTHUMP00000029404;OTTHUMP00000163697;S18mt-b;mitochondrial ribosomal protein S18-2;mrps18-b APPROVED protein-coding ENSG00000204568 14516 14781 611982 REVIEWED 1346345 MRPS18A mitochondrial ribosomal protein S18A Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 6 6 6 p21.3 45190561 45207176 - 43747020 43763506 - 43638934 43655549 - 1302857;1580863;6480464 11279123 15489334;14702039;14574404;12706105;12477932;11543634;11402041;17207965;20877624;19913121;20628086;20186120;21139048;21832049 55168 Q5QPA5;Q9NVS2 AB049952;ABBA01050669;AK001410;AK300757;AK307183;AL136131;AMYH01016316;BC010364;CA420521;CH471081;DQ884400;NM_001193343;NM_018135 AAH10364;ABI63367;ADQ32634;BAA91675;BAB41005;BAG62423;EAX04224;EAX04225;NP_001180272;NP_060605;Q9NVS2 Hs.520149 1663564;1665408;1680829;2138805 D6S1173E;RH81005;STS-W44431;WI-14320 FLJ10548;HumanS18b;MRP-S18-3;MRPS18-3;S18bmt 28S ribosomal protein S18-3, mitochondrial;28S ribosomal protein S18a, mitochondrial;MRP-S18-a;OTTHUMP00000016497;OTTHUMP00000016498;OTTHUMP00000016499;S18mt-a;mitochondrial ribosomal protein S18-3 APPROVED protein-coding ENSG00000096080 14515 14780 611981 REVIEWED 1354385 MRPS23P1 mitochondrial ribosomal protein S23 pseudogene 1 7 7 7 p13 45057948 45058851 + 44925711 44926614 + 44959186 44960089 + 12706105 352290 AACC02000110;ABBA01058240;AC004847;AC004854;AMYH01017219;AY135323;CH236960;NG_002844 pseudo 29758 INFERRED 1352075 MRPS24P1 mitochondrial ribosomal protein S24 pseudogene 1 11 11 11 p15.4 255063 255737 + 293854 294345 - 303710 304376 - 12706105 338389 ABBA01011170;AC136475;AMYH01003277;AY135324;NG_002650;NG_032892 pseudo 29759 INFERRED 1319275 MRPS2 mitochondrial ribosomal protein S2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 9 9 9 q34 108909613 108913649 + 137532375 137536340 + 138392477 138396519 + 1580863;6480464 21145461;15489334;12706105;12477932;11543634;11402041;11279123;10810093;20877624;21832049;22939629;20186120;21139048;21906983 51116 Q5T8A0;Q9Y399 AB051627;AB055388;ABBA01030037;AF151849;AI300329;AL161452;AL555185;AMYH01021839;BC004905;BC008017;BC013108;BE264885;BI260471;BQ065672;BQ723448;BU169388;BX362434;CH471090;NM_016034;NR_051967;NR_051968;NR_051969;NR_051970 AAD34086;AAH04905;AAH08017;AAH13108;BAB54954;BAB62529;EAW88152;EAW88153;NP_057118;Q9Y399 Hs.382044 1796352;2155341 MRPS2_936;RH11868 CGI-91;MRP-S2;S2mt 28S ribosomal protein S2, mitochondrial;OTTHUMP00000022545;OTTHUMP00000022546;mitochondrial 28S ribosomal protein S2 APPROVED protein-coding ENSG00000122140 14495 14783 611971 REVIEWED 1343711 MRPS25P1 mitochondrial ribosomal protein S25 pseudogene 1 4 4 4 q21.23 78536191 78536710 + 81461718 81462237 + 81242694 81243213 + 12706105 338390 ABBA01063403;AC021127;AMYH01014344;AY135325;NG_002651 pseudo 29760 INFERRED 1317511 MRPS18C mitochondrial ribosomal protein S18C Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008] 4 4 4 q21.23 81667571 81673381 + 84596196 84601900 + 84377118 84382929 + 1302857;1580863;6480464 11279123 16344560;15489334;14702039;12706105;12477932;10810093;17207965;20877624;20379614;22990118;21890473;22505724 51023 D6RCM2;D6RE70;H0Y9W2;H0YAG5;Q9Y3D5 ABBA01063465;AC096768;AF151892;AK002008;AK026620;AMYH01014359;BC005186;CH471057;DB141267;NM_016067 AAD34129;AAH05186;ADQ31594;EAX05937;EAX05938;EAX05939;EAX05940;NP_057151;Q9Y3D5 Hs.436161 5020416;5037552 D8S2279;G06935 CGI-134;FLJ11146;FLJ22967;MRP-S18-1;MRPS18-1 28S ribosomal protein S18-1, mitochondrial;28S ribosomal protein S18c, mitochondrial;MRP-S18-c;OTTHUMP00000160986;OTTHUMP00000219795;OTTHUMP00000219796;OTTHUMP00000220290;OTTHUMP00000220291;S18mt-c;mitochondrial ribosomal protein S18-1;mrps18-c APPROVED protein-coding 16633 14782 611983 REVIEWED 1316574 MRPS21 mitochondrial ribosomal protein S21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008] 1 1 1 q21 123382001 123396548 + 148532893 148547443 + 150266269 150280819 + 6480464 11279123;15489334;12706105;12477932;11543634;11402041;9110174;8619474;21145461;19615732;20877624;22939629;20186120;21890473 54460 P82921 AA977333;AB049955;AB051353;ABBA01049331;ABBA01049332;AC242988;AF182417;AK058101;AK289467;AL138795;AMYH01001373;BC004566;BC006554;BG037004;BI755132;CH471121;HY161691;NM_018997;NM_031901;U79258 AAB50204;AAG14953;AAH04566;AAH06554;BAB41008;BAB71666;BAF82156;CAI22820;EAW53557;EAW53558;EAW53559;NP_061870;NP_114107;P82921 Hs.405880 1655460;1850358;2153687;5037552 D8S2279;RH16371;SGC32664;SHGC-32206 MDS016;MRP-S21;RPMS21 28S ribosomal protein S21, mitochondrial;OTTHUMP00000014527;OTTHUMP00000014921;S21mt;mitochondrial 28S ribosomal protein S21 APPROVED protein-coding 14046 14784 611984 REVIEWED 1315875 MRPS23 mitochondrial ribosomal protein S23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008] 17 17 17 q22-q23 52378620 52389180 - 53271841 53282398 - 55916287 55927433 - 1580863;6480464 15489334;12706105;21145461;12477932;11543634;11279123;10938081;10810093;20379614;18029348;20877624;16159877;22939629;20186120;21890473;23184937 51649 J3QLC1;J3QLR8;Q9Y3D9 AB061206;ABBA01041318;ABBA01041319;AC015845;AF151896;AF161447;AK312729;AMYH01008508;AMYH01008509;AW299554;BC000242;BI962985;BX479815;CH471109;NM_016070 AAD34133;AAF29007;AAH00242;BAB54956;BAG35600;EAW94503;NP_057154;Q9Y3D9 Hs.5836 2176583 STS-AA025002 CGI-138;HSPC329;MRP-S23 28S ribosomal protein S23, mitochondrial;S23mt APPROVED protein-coding 14509 17592 611985 REVIEWED 1344118 MRPS3 mitochondrial ribosomal protein S3 1302857 11279123 11943462 14496 1353996 MRPS22 mitochondrial ribosomal protein S22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008] 3 3 3 q23 137485814 137498839 + 140545551 140558578 + 139062861 139075888 + 1580863;6480464;7240710 11279123;17353931;10938081;18539099;17873122;16303743;16236267;15489334;15081106;12706105;12477932;11543634;11175783;21145461;18029348;20877624;22990118;22939629;16196087;17314511;20186120;21139048;21890473;21906983;21907836;21182203;22904065;23246001;20360068;22013104;21628590;23251661;23184937 56945 C9J5D8;G5E9V5;G5E9W7;H7C5F2;H7C5H3;H7C5L9;P82650;Q9H3I1 AB061314;AB208981;ABBA01059064;AC024933;AF063603;AF226045;AF321613;AK075436;AK292852;AL110129;AMYH01013538;BC009296;CH471052;NG_012174;NM_020191 AAF86945;AAG43162;AAH09296;AAK01406;BAB54962;BAC11619;BAD92218;BAF85541;EAW79041;EAW79042;EAW79043;EAW79044;EAW79045;NP_064576;P82650 Hs.745001 1656370;1678459;1683699;2156933;5015861;7185938 A004F45;D10S16;RH93370;RH98266;STS-N62924 C3orf5;COXPD5;GIBT;GK002;MRP-S22;RPMS22 28S ribosomal protein S22, mitochondrial;OTTHUMP00000216955;OTTHUMP00000216957;OTTHUMP00000216958;S22mt APPROVED protein-coding ENSG00000175110 14508 10430 605810;611719 REVIEWED 1314387 MRPS24 mitochondrial ribosomal protein S24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011] 7 7 7 p14 43896023 43899010 - 43872682 43875670 - 43906157 43909145 - 6480464 17353931;10938081;15489334;12706105;12690205;12477932;11543634;11402041;11279123;9653160;8127713;22087225;17207965;20877624;21832049;20186120;23251661 64951 F2Z310;Q96EL2 AACC02000040;AB061207;ABBA01058197;AC004985;AF161453;AMYH01017207;BC012167;BC054865;CA413186;CH236951;CH471073;NM_032014 AAF29013;AAH12167;AAH54865;ADQ33181;BAB54957;EAL24009;EAW94172;EAW94173;NP_114403;Q96EL2 Hs.284286 1683952;1774321;2148849;2219174 D7S2778;D7S2880;MRPS24_2828;RH98238 HSPC335;MRP-S24;S24mt;bMRP-47;bMRP47 28S ribosomal protein S24, mitochondrial;OTTHUMP00000159213;S24mt;bMRP-47;bMRP47;mitochondrial 28S ribosomal protein S24 APPROVED protein-coding ENSG00000062582 14510 17593 611986 VALIDATED 1344035 MRPS31P1 mitochondrial ribosomal protein S31 pseudogene 1 3 3 3 p21.33 41168944 41169156 + 41205525 41205737 + 41230521 41230733 + 12706105 351449 ABBA01024789;AC104307;AMYH01013103;AY135328;NG_002842 pseudo 29763 INFERRED 4889286 MRPS31P2 mitochondrial ribosomal protein S31 pseudogene 2 13 13 13 q12.11 1188553 1204807 - 19024710 19040962 - 20126710 20142962 - 12706105 341757 ABBA01068556;AL359457;AMYH01004939;AY135329;NG_004674 2182633;5105449 SHGC-104682;SHGC-34025 pseudo 39252 INFERRED 6483490 MRPS31P4 mitochondrial ribosomal protein S31 pseudogene 4 13 53191693 53211581 + 100885866 ABBA01037066;AL137058;NG_032700 pseudo 42649 INFERRED 6483994 MRPS31P5 mitochondrial ribosomal protein S31 pseudogene 5 13 q 52741844 52768602 - 6480464 16344560 100887750 ABBA01051059;AK027536;AK307124;AK307345;AK309380;AL139082;AL158066;AMYH01005119;BX648914;DA732370;NR_002816;NR_051963;NR_051964;NR_051965 Hs.553878 1342109;1656615;2111392;2123730 D17S1355E;D1S1170;RH66294;STS-AA035456 DKFZp434F1622;DKFZp686O21268;FLJ14630;FLJ97072;FLJ97293;FLJ99421;MRPS31P3 APPROVED pseudo ENSG00000217576 39253 VALIDATED 1318680 MRPS26 mitochondrial ribosomal protein S26 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008] 20 20 20 p13 3088662 3090883 + 2974675 2976896 + 3026675 3028896 + 1580863;6480464 15300802;11279123;15489334;12747765;12706105;12477932;11780052;11543634;9857009;16169070;21145461;16248985;19615732;17207965;20877624;22939629;20186120;20360068;18029348 64949 Q9BYN8;Q9H273 AB051354;ABBA01053804;AF110983;AF308301;AL121905;AMYH01011672;BC013018;BI115733;CH471133;NM_030811 AAG48268;AAH13018;ADQ33193;BAB54943;EAX10556;NP_110438;Q9BYN8 Hs.18946 1684088;1770898;1856300 RH64129;RH75550;WIAF-1568 C20orf193;GI008;MRP-S13;MRP-S26;MRPS13;NY-BR-87;RPMS13;dJ534B8.3 28S ribosomal protein S13, mitochondrial;28S ribosomal protein S26, mitochondrial;OTTHUMP00000030073;S13mt;S26mt;serologically defined breast cancer antigen NY-BR-87 APPROVED protein-coding ENSG00000125901 14045 17595 611988 REVIEWED 1323490 MRPS27 mitochondrial ribosomal protein S27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). [provided by RefSeq, Jul 2008] 5 5 5 q13.2 67410623 67511470 - 71551111 71651809 - 71515236 71616084 - 1580863;6480464 12706105;12477932;11344316;11279123;9039502;19103604;21145461;17207965;20877624;17643375;14702039;22939629;23184937;22841715;20186120;15161933;21139048;21906983;21907836;19322201;21628590;22952844 23107 B4DRT2;D6RH20;D6RJC7;E5RJ73;G5EA06;Q92552 ABBA01061902;ABBA01061903;ABBA01061904;AC012609;AC026406;AK025417;AK027001;AK095964;AK128683;AK296581;AK299412;AK300111;AK309065;AMYH01015402;BC003632;BC011818;BC030521;BC064902;BM995930;CH471084;D87453;DC341760;NM_015084 AAH03632;AAH30521;AAH64902;ADQ32593;BAA13394;BAG54710;BAG59201;BAG61394;BAG61906;EAW95701;EAW95702;EAW95703;NP_055899;Q92552 Hs.482491 1657801;1735468;2122166;2134469;2148290;5015961 D15S1477;D5S1591E;G09511;RH66300;SHGC-13726;T03460 FLJ21764;FLJ23348;FLJ38645;KIAA0264;MRP-S27;S27mt 28S ribosomal protein S27, mitochondrial;OTTHUMP00000126943;OTTHUMP00000223555;OTTHUMP00000223883;OTTHUMP00000226222;OTTHUMP00000226223;mitochondrial 28S ribosomal protein S27 APPROVED protein-coding ENSG00000113048 14512 17596 611989 REVIEWED 1318737 MRPS25 mitochondrial ribosomal protein S25 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. [provided by RefSeq, Jul 2008] 3 3 3 p25 15028290 15045083 - 15065023 15081820 - 15090019 15106816 - 1580863;6480464 21145461;14702039;12706105;12477932;11543634;11279123;11214971;10938081;17353931;15489334;16751776;17207965;20877624;22939629;17342744;18029348;20186120;21139048 64432 B4DFJ5;B4DQG6;E7EPW2;P82663 AB061208;ABBA01025147;AC090954;AI288348;AK024433;AK024702;AK098361;AK294123;AK298791;AL597886;AMYH01012999;AMYH01013000;BC003590;CH471055;NM_022497 AAH03590;ADQ32832;BAB14968;BAB15723;BAB54958;BAG57456;BAG60928;EAW64217;EAW64218;EAW64219;NP_071942;P82663 Hs.715617 1657696;1699024;1777478;1846983;2168368;5024543 D1S3690;RH103085;RH12078;SHGC-76738;SHGC-76739;WI-13654 DKFZp313H0817;FLJ00023;MRP-S25;RPMS25 28S ribosomal protein S25, mitochondrial;OTTHUMP00000160273;OTTHUMP00000208264;OTTHUMP00000208265;OTTHUMP00000208266;OTTHUMP00000209537;S25mt;mitochondrial 28S ribosomal protein S25 APPROVED protein-coding ENSG00000131368 14511 17594 611987 REVIEWED 4144444 MRPS33P3 mitochondrial ribosomal protein S33 pseudogene 3 4 4 4 q26 113356926 113357247 + 116283587 116283908 + 116064138 116064459 + 12706105 359776 ABBA01063847;AC093656;AMYH01014477;AY135335;NG_002892 2178960 G33823 pseudo 29766 INFERRED 1344754 MRPS33P1 mitochondrial ribosomal protein S33 pseudogene 1 1 1 1 q21.3 127422135 127422301 - 152617052 152617218 - 154350428 154350594 - 12706105;19773279 148330 ABBA01049482;AL162591;AMYH01001415;AY135333;NG_002830 pseudo 29764 INFERRED 4144450 MRPS33P2 mitochondrial ribosomal protein S33 pseudogene 2 4 4 4 p14 38448701 38449022 - 37684800 37685121 - 38008405 38008726 - 12706105 359775 ABBA01074317;AC021106;AMYH01014114;AY135334;NG_002891 pseudo 29765 INFERRED 4144448 MRPS33P4 mitochondrial ribosomal protein S33 pseudogene 4 20 20 20 q13.13 47832505 47832756 + 50561245 50561496 + 51127838 51128089 + 12706105 359777 ABBA01052834;AL049765;AMYH01011989;AY135336;NG_002893 pseudo 29767 INFERRED 1351434 MRPS35P1 mitochondrial ribosomal protein S35 pseudogene 1 3 3 3 p25.3 5426485 5426612 + 5463662 5463789 + 5488662 5488789 + 12706105 339910 ABBA01020454;AC090842;AMYH01012953;AY135337;NG_002832 pseudo 29768 INFERRED 4144443 MRPS35P2 mitochondrial ribosomal protein S35 pseudogene 2 5 5 5 q15 93622464 93622642 - 97766147 97766325 - 97738247 97738425 - 12706105 359778 ABBA01069211;AC094106;AMYH01015493;AY135338;NG_002894 pseudo 29769 INFERRED 1350185 MRPS35P3 mitochondrial ribosomal protein S35 pseudogene 3 10 10 q21 59412239 59412777 + 59742233 59742771 + 12706105 359779 ABBA01019433;AC006484;AMYH01002765;AY135339;NG_002895 pseudo 29770 INFERRED 1313591 MRPS28 mitochondrial ribosomal protein S28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008] 8 8 8 q21.1-q21.2 76835374 76946728 - 80993650 81105061 - 80831095 80942506 - 1302857;1580863;6480464 11279123 12477932;11543634;11042152;10751423;8125298;10938081;15489334;12706105;21145461;18029348;20877624;22939629;20186120;21139048;21890473;22190034 28957 E5RFH3;E5RFT8;E5RGC7;E5RK86;H0YAT2;H0YC42;H7C5V3;Q9Y2Q9 AB061209;ABBA01004073;ABBA01004074;AC009686;AC018952;AC036214;AF070663;AK026506;AK223069;AK315739;AMYH01018819;AMYH01018820;BC010150;CH471068;NM_014018 AAD20969;AAH10150;ADZ15798;BAB54959;BAD96789;BAG38094;EAW87069;EAW87070;EAW87071;EAW87072;NP_054737;Q9Y2Q9 Hs.521124 1657821;1677092;1719127;2157919;2181559 G17279;RH123281;RH36351;RH98635;STS-AA010860 FLJ22853;HSPC007;MRP-S28;MRP-S35;MRPS35 28S ribosomal protein S28, mitochondrial;28S ribosomal protein S35, mitochondrial;OTTHUMP00000227102;S28mt;S35mt;mitochondrial 28S ribosomal protein S35 APPROVED protein-coding ENSG00000147586 14513 10097 611990 REVIEWED 1605223 MRPS36P1 mitochondrial ribosomal protein S36 pseudogene 1 3 3 3 p25.3 6752271 6752580 - 6789724 6790033 - 6814724 6815033 - 12706105 347705 ABBA01020441;AC023485;AMYH01012957;AY135340;NG_002709 pseudo 29771 INFERRED 1605222 MRPS36P2 mitochondrial ribosomal protein S36 pseudogene 2 4 4 4 q35.1 185141959 185142061 + 188058887 188058989 + 187821893 187821995 + 12706105;20339536 347706 ABBA01070569;AC108865;AMYH01014783;AY135341;NG_002711 pseudo 29772 INFERRED 1605224 MRPS36P3 mitochondrial ribosomal protein S36 pseudogene 3 8 8 8 q24.13 119292795 119292927 + 123172890 123173022 + 123103709 123103841 + 12706105 347704 ABBA01037857;AC037486;AMYH01019001;AY135342;NG_002707 pseudo 29773 INFERRED 1605226 MRPS36P4 mitochondrial ribosomal protein S36 pseudogene 4 11 11 11 q23.2 109232555 109232856 + 111584530 111584831 + 112079320 112079621 + 12706105 347702 ABBA01039801;AMYH01004035;AP002884;AY135343;NG_002703 pseudo 29774 INFERRED 1605225 MRPS36P5 mitochondrial ribosomal protein S36 pseudogene 5 12 12 12 q12 42249796 42250097 - 41734153 41734454 - 43447886 43448187 - 12706105 347703 ABBA01031413;AC079319;AMYH01004410;AY135344;NG_002705 pseudo 29775 INFERRED 1605221 MRPS36P6 mitochondrial ribosomal protein S36 pseudogene 6 20 20 20 p12.1 13456567 13456787 - 13334497 13334717 - 13386497 13386717 - 12706105 347707 ABBA01053964;AL121782;AMYH01011723;AY135345;NG_002713 pseudo 29776 INFERRED 1316990 MRPS31 mitochondrial ribosomal protein S31 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 22360890 22402790 - 40201433 40243293 - 41303432 41345347 - 1302857;1580863;6480464 11279123 15057823;11984006;15489334;21145461;8567980;12706105;12477932;16169070;20877624;19615732;22939629;16196087;20186120;21890473 10240 Q92665 ABBA01021290;ABBA01021291;ABBA01021292;AI343737;AI343739;AK315248;AL161614;AL355132;AMYH01005057;AV712217;BC010159;BC022045;CH471075;NM_005830;Z68747 AAH22045;ADZ15910;BAG37670;CAA92951;EAX08629;NP_005821;Q92665 Hs.596607 1733286;2111105;2117308;2169203;2169205;2182633;5105449 A005M06;D13S237E;D13S639;G20325;SGC33523;SHGC-104682;SHGC-34025 IMOGN38;MRP-S31;S31mt 28S ribosomal protein S31, mitochondrial;OTTHUMP00000018305;imogen 38 APPROVED protein-coding ENSG00000102738 16632 10098 611992 REVIEWED 1354008 MRPS5P3 mitochondrial ribosomal protein S5 pseudogene 3 5 5 5 q23.2 122609035 122610515 - 126506225 126507528 - 126478171 126479651 - 12706105 133615 ABBA01068884;AC011416;AMYH01015604;AY135348;NG_002662 pseudo 29778 INFERRED 1352597 MRPS5P4 mitochondrial ribosomal protein S5 pseudogene 4 18 18 18 q21 54905134 54905471 + 56338047 56338384 + 58187067 58187404 + 12706105 359797 ABBA01056178;AC010928;AMYH01009042;AY135347;AY135349;NG_002900 pseudo 29779 INFERRED 1320179 MRPS30 mitochondrial ribosomal protein S30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008] 5 5 5 q11 44701944 44708532 + 44844784 44851373 + 44809027 44815616 + 1302857;1580863;6480464 11279123 10640817;15489334;14702039;12706105;12477932;11543634;11230166;11042152;8889548;8125298;19789366;20872241;20800603;20877624;22939629;20186120;21987572;21906983 10884 Q9BUN6;Q9NP92 AB061211;ABBA01024274;AC093297;AF146192;AF217523;AK074777;AK222704;AK222894;AL136706;AL355715;AL355716;AMYH01015061;BC002460;BC007735;BU676154;CH471119;CQ782712;NM_016640 AAF65227;AAF67634;AAH02460;AAH07735;ADZ15384;BAB54961;BAC11202;BAD96424;BAD96614;CAB66641;CAB90810;CAB90811;CAF85946;EAW56076;NP_057724;Q9NP92 Hs.124165 1686494;2107409;2162165 MRPS30_2960.2;RH78328;SHGC-186 DKFZp566B2024;MRP-S30;PAP;PDCD9;S30mt (HSA)PAP protein;28S ribosomal protein S30, mitochondrial;OTTHUMP00000122439;S30mt;programmed cell death 9;programmed cell death protein 9 APPROVED protein-coding ENSG00000112996 8769 17597 611991 REVIEWED 4144445 MRPS6P1 mitochondrial ribosomal protein S6 pseudogene 1 1 1 1 p35 24985858 24986221 - 26462113 26462476 - 26589526 26589889 - 12706105 359780 ABBA01034902;AL355877;AMYH01000397;AY135350;AY135352;NG_002896 MRPS6P3 pseudo 29780 INFERRED 1319435 MRPS33 mitochondrial ribosomal protein S33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008] 7 7 7 q34 135427986 135436803 - 140352431 140361216 - 140705961 140714781 - 1302857;1580863;6480464 11279123 17567985;15489334;12853948;12706105;12690205;12477932;10810093;9847074;20877624;16196087 51650 A4D1T3;C9JBY7;Q3KRB4;Q9Y291 AA743808;AACC02000020;ABBA01034092;AC006006;AF078858;AF151897;AI305281;AK024776;AMYH01017993;BC015462;BC105793;BP870829;BQ420818;CH236950;CH471070;NM_016071;NM_053035;W95986 AAD34134;AAD43190;AAD44490;AAH15462;AAI05794;EAL24022;EAW83966;EAW83967;NP_057155;NP_444263;Q9Y291 Hs.416207 2170377;2178960 G33823;SHGC-36481 CGI-139;FLJ21123;MRP-S33;PTD003;S33mt 28S ribosomal protein S33, mitochondrial;OTTHUMP00000212179;OTTHUMP00000212180;OTTHUMP00000212181;S33mt APPROVED protein-coding ENSG00000090263 16634 17598 611993 REVIEWED 4144441 MRPS6P2 mitochondrial ribosomal protein S6 pseudogene 2 1 1 1 p33 49598530 49598903 + 51084729 51085102 + 51312141 51312514 + 12706105 359781 ABBA01074819;AC091610;AMYH01000610;AY135351;NG_002897 pseudo 29781 INFERRED 4144440 MRPS6P4 mitochondrial ribosomal protein S6 pseudogene 4 12 12 12 q21 89384772 89385079 + 88237207 88237514 + 89713076 89713383 + 12706105 359782 ABBA01053420;AC024909;AMYH01004648;AY135353;NG_002898 pseudo 29782 INFERRED 4144442 MRPS7P1 mitochondrial ribosomal protein S7 pseudogene 1 8 8 8 p11.22 35603054 35603758 - 36771939 36772643 - 36652781 36653485 - 12706105;22747683 359783 ABBA01023576;AC124076;AMYH01018647;AY135354;NG_002899 1706346 SHGC-80739 pseudo 29783 INFERRED 1353428 MRPS7P2 mitochondrial ribosomal protein S7 pseudogene 2 12 12 12 p13.1 21100956 21102004 + 15847317 15848365 + 15956050 15957098 + 12706105 341469 ABBA01067895;AC073651;AMYH01004304;AY135355;NG_002833 pseudo 29784 INFERRED 1343907 MRPS8 mitochondrial ribosomal protein S8 1302857 11279123 11943462 14500 1315499 MRPS35 mitochondrial ribosomal protein S35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010] 12 12 12 p11 33009297 33054807 + 27754996 27800495 + 27863706 27909237 + 1302857;1580863;6480464 11279123 21145461;15300802;16303743;15489334;12706105;12477932;11543634;11344316;20877624;16344560;19615732;22939629;16196087;20186120;20360068;21139048 60488 F5H612;H0YFD1;H0YG82;Q9P1R5 ABBA01068049;ABBA01068050;AC009509;AF068296;AF182422;AI538796;AK075378;AK075515;AL512733;AMYH01004351;BC015862;BC017086;BC028346;BC063515;BC109372;CH471094;CS051169;CS051349;DA747094;NM_001190864;NM_021821 AAF65185;AAG14958;AAH15862;AAH17086;AAH28346;AAH63515;AAI09373;BAC11579;BAC11664;CAC21665;CAI72080;CAI72169;EAW96567;EAW96568;NP_001177793;NP_068593;P82673 Hs.714076 1679686;1705852;1796356;1847916;1849866;2118665;2172406 D12S2136;D12S2143;MRPS35_937;RH45013;RH93577;SHGC-81184;WI-20340 DKFZp762P093;HDCMD11P;MDS023;MGC104278;MRP-S28;MRPS28 28S ribosomal protein S28, mitochondrial;28S ribosomal protein S35, mitochondrial;MRP-S35;OTTHUMP00000240420;OTTHUMP00000240422;OTTHUMP00000240424;S28mt;S35mt;mitochondrial ribosomal protein S28 APPROVED protein-coding ENSG00000061794 16635 11373 611995 REVIEWED 1313761 MRPS34 mitochondrial ribosomal protein S34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternate splice variants of this gene have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2034171 2035419 - 1761897 1763141 - 1821896 1823140 - 1580863;6480464 17353931;15489334;12706105;12507520;12477932;11279123;10751423;21145461;19615732;20877624;22939629;17314511;18029348;20186120;20360068;21139048;21890473 65993 C9JJ19;P82930 ABBA01030296;AC012180;AMYH01007040;BC001182;CH471112;NM_023936 AAH01182;ADZ15685;EAW85627;EAW85628;NP_076425;P82930 Hs.720388 1796354;2180351 MRPS34_1407;RH36357 MGC2616;MRP-S12;MRP-S34;MRPS12 28S ribosomal protein S34, mitochondrial;OTTHUMP00000158801;OTTHUMP00000158802;S34mt APPROVED protein-coding ENSG00000074071 16618 17599 611994 REVIEWED 1319596 MRPS36 mitochondrial ribosomal protein S36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008] 5 5 5 q13.2 65512825 65528390 + 68549329 68561741 + 68513573 68525985 + 1302857;1580863;6480464 11279123 15489334;12706105;12477932;17207965;18029348;20877624;22939629;21139048;21890473 92259 D6R941;P82909 AA780181;ABBA01048280;ABBA01048281;ABBA01048282;AC093223;AC145132;AF086034;AF271777;AL529370;AMYH01015145;BC015966;BC017900;BX951861;CH471137;NM_033281 AAG44788;AAH15966;AAH17900;ADQ33147;EAW51302;EAW51303;NP_150597;P82909 Hs.631971 1689622;1733360;1733500;2182556 D5S1413;D5S1416;D5S602;RH94105 DC47;MGC22896;MRP-S36 28S ribosomal protein S36, mitochondrial;OTTHUMP00000222036;S36mt APPROVED protein-coding ENSG00000134056 16631 17600 611996 VALIDATED 2306585 MRRFP1 mitochondrial ribosome recycling factor pseudogene 1 X X X q25 122632130 122633849 - 122077541 122079460 - 122249960 122251679 - 21139048 286423 Q4TT42 ABBA01036309;AMYH01022933;NG_005178;Z83848 1690826 RH68626 MRRFP;RP1-57A13.2 APPROVED pseudo 35238 INFERRED 5508076 MRS2P1 MRS2 pseudogene 1 8 8 q24.13 126001919 126003505 + 125932672 125934216 + 100130448 ABBA01037906;AC100858;AMYH01019010;NG_022435 MRS2LP1 APPROVED pseudo 20590 INFERRED 2299195 MRS2P2 MRS2 pseudogene 2 12 12 12 q21.1 71905361 71908052 - 70528377 70531031 - 72242072 72244763 - 729633 ABBA01026504;AC089984;AMYH01004579;AY333753;NR_024072 Hs.716256 5015404;5020494;5021228;5022578;5037552 D1S1423;D8S2279;GDB:312794;L17705;L18062 APPROVED pseudo 33942 VALIDATED 1349842 MRSD mental retardation-skeletal dysplasia 7240710 4364 7236 1350863 MRT2A mental retardation, non-syndromic, autosomal recessive, 2A 10932263 266597 13366 1318020 MRPS5 mitochondrial ribosomal protein S5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008] 2 2 2 p11.2-q11.2 90103862 90138778 - 95116679 95151481 - 95752952 95787754 - 1580863;6480464 17353931;15489334;14702039;12706105;12477932;11543634;11402041;11344316;11279123;21145461;19559069;22939629;20186120;21139048 64969 P82675 AB049940;ABBA01003574;ABBA01003575;ABBA01003576;AC092835;AK055390;AK058160;AMYH01010683;BC000219;BC014172;BG771419;CH471219;NM_031902 AAH00219;AAH14172;AAX88980;ABM83546;ABM86786;BAB40993;BAB71695;EAX10712;EAX10713;NP_114108;P82675 Hs.655259 1651030;1677096;1717051;2133963;2217640 A003B25;D2S1681E;MRPS5_2701;RH124030;RH93830 MRP-S5;S5mt 28S ribosomal protein S5, mitochondrial;OTTHUMP00000160940;OTTHUMP00000207351;mitochondrial 28S ribosomal protein S5 APPROVED protein-coding ENSG00000144029 14498 10099 611972 REVIEWED 1312391 MRPS6 mitochondrial ribosomal protein S6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 20645386 20714895 + 34367693 34437200 + 35445823 35515334 + 1580863;6480464 11279123;19240061;19198609;15489334;14702039;12706105;12477932;12036297;11543634;11402041;10830953;16169070;17207965;20738937;20877624;20971364;16159877;21378990;21832049;20186120 64968 P82932 AB049942;AB051347;ABBA01057365;AI799469;AK096374;AK312084;AMYH01012214;AP000315;AP000467;AY061855;BC000547;BC004976;BC010076;BC042752;BC051302;BG720377;CH471079;DB571303;NM_032476 AAH00547;AAH04976;AAH10076;AAH51302;AAL35739;ADQ33169;BAB40995;BAB54937;BAG35020;EAX09795;EAX09798;NP_115865;P82932 Hs.302742 1664456;1701002;1770008;1857881;2107411;2116545;2116547;2118353;2122018;2130978;2149205;2169243;2218812 A004F10;A005K42;Cda0ae11;D21S1941;G20293;MRPS6_3115.2;RH104128;RH35989;RH78031;SHGC-87543;SHGC-87556;SLC5A3_3862;WI-11818 C21orf101;MRP-S6;RPMS6;S6mt 28S ribosomal protein S6, mitochondrial;OTTHUMP00000068540 APPROVED protein-coding ENSG00000243927 14051 11374 611973 REVIEWED 1314201 MRRF mitochondrial ribosome recycling factor 9 9 9 q33.2 95675208 95734069 + 124066968 124125564 + 125026882 125085743 + 6480464 18782833;15489334;15164053;12477932;10773675;9838146;8889549;7566098;19716793;20379614;20877624;17207965;20186120;21832049;22939629 92399 Q5T7T2 ABBA01043710;ABBA01043711;ABBA01043712;ABBA01043713;AK291603;AK291809;AK292790;AK300718;AK310974;AL162424;AMYH01021694;BC002814;BC013049;BC053604;BF982227;CH471090;NM_001173512;NM_138777;NM_199177 AAH13049;AAH53604;ADQ31837;BAF84292;BAF84498;BAF85479;BAH13333;EAW87520;EAW87521;EAW87522;EAW87523;EAW87524;EAW87525;EAW87526;EAW87527;EAW87528;NP_001166983;NP_620132;NP_954646;Q96E11 Hs.368011 1652708;1666908;1686086;1856603 RH94143;SHGC-34544;STS-D60510;WI-18446 MRFF;MTRRF;RRF OTTHUMP00000022037;OTTHUMP00000022040;OTTHUMP00000022043;ribosome-recycling factor, mitochondrial;ribosome-releasing factor, mitochondrial protein-coding ENSG00000148187 7234 06856 604602 VALIDATED 1349118 MRX1 mental retardation, X-linked 1 (non-dysmorphic) 7240710 3177466;1605216 4365 7238 309530 1320377 MRVI1 murine retrovirus integration site 1 homolog This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011] 11 11 p15 10551214 10672111 - 10594638 10715535 - 1580863;6480464 10321731;18029348;16990611;16344560;16166082;14729908;14702039;12480535;12477932;11309393;10724174;2271613;1538749;20969748;21244222;20080650;20379614;20526338;20567233;17342744;21865585 10335 E9PJ61;E9PNK7;E9PRG4;E9PRH0;H0YCL0;H0YDM7;H0YI08;Q9UNY1 ABBA01061155;ABBA01061156;ABBA01061157;AC009532;AF081249;AF081250;AK002039;AK127209;AK296336;AK300358;AK301296;AK304702;AL044056;AL117524;AL603309;AL832178;AMYH01003390;BC117127;CH471064;DA127310;DA163499;DA185715;DA797538;DB132030;DB167290;DB445355;DC422754;NM_001098579;NM_001100163;NM_001100167;NM_001206880;NM_001206881;NM_130385 AAD25922;AAD25923;AAI17128;ADR83074;BAH12320;BAH13268;BAH13451;BAH14239;EAW68559;EAW68560;EAW68561;EAW68562;EAW68563;NP_001092049;NP_001093633;NP_001093637;NP_001193809;NP_001193810;NP_569056;Q9Y6F6 Hs.501898;Hs.680194 1335169;1653587;1658340;1670411;1697738;1761197;2121565;7185150 D11S1128;D11S1329;D11S4398;G17584;RH102391;SHGC-145212;WI-21997 IRAG;JAW1L IP3R-associated cGMP kinase substrate;JAW1-related protein MRVI1;OTTHUMP00000230939;OTTHUMP00000230940;OTTHUMP00000230943;OTTHUMP00000237927;OTTHUMP00000237928;inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate;inositol 1,4,5-triphosphate-associated cGMP kinase substrate;inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate;protein MRVI1 APPROVED protein-coding ENSG00000072952 7237 05242 604673 REVIEWED 1346923 MRX10 mental retardation, X-linked 10 1605216 4374 7239 1349536 MRX12 mental retardation, X-linked 12 1605216 4376 7241 1344586 MRX13 mental retardation, X-linked 13 1605216 4377 7242 1342752 MRX14 mental retardation, X-linked 14 7240710 8026106 4378 7243 1346270 MRX15 mental retardation, X-linked 15 8826458 4379 7244 1348880 MRX16 mental retardation, X-linked 16 7240710 9222958 4380 7245 105830;300055;300260;300496;300673;312750 1351501 MRX17 mental retardation, X-linked 17 7240710 7943039 4381 7246 300220;300438;300705 1351389 MRX11 mental retardation, X-linked 11 1605216 4375 7240 1315244 MRPS9 mitochondrial ribosomal protein S9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008] 2 2 2 q12.1 99857577 99919512 + 105020938 105082850 + 105654483 105716418 + 1302857;6480464 11279123 17353931;15300802;17213182;15489334;14702039;12706105;12477932;11344316;16169070;21145461;20877624;21182205;22939629;20186120;20639865;21139048;21890473;21906983;22190034 64965 H7BZC4;P82933 ABBA01073867;ABBA01073868;ABBA01073869;AC010884;AC104655;AC107080;AK001451;AK130078;AMYH01010833;AV729381;BC036575;BC047784;BC057240;CH471127;DT217261;NM_182640 AAH47784;AAH57240;EAX01767;EAX01768;EAX01769;NP_872578;P82933 Hs.590900 1646224;1666986 RH36464;WI-14764 MRP-S9;RPMS9;S9mt 28S ribosomal protein S9, mitochondrial;OTTHUMP00000161376 APPROVED protein-coding ENSG00000135972 14501 17602 611975 REVIEWED 1352610 MRX18 mental retardation, X-linked 18 7943039 4382 7247 1347738 MRX2 mental retardation, X-linked 2 (non-dysmorphic) 7240710 3177465;1605216 4367 1702166;7184881 DXS85 7249 309548 1343365 MRX19 mental retardation, X-linked 19 7240710 7943043 4383 7248 300844;303600 1348022 MRX20 mental retardation, X-linked 20 7240710 7573127 4384 7250 1352032 MRX21 mental retardation, X-linked 21 7240710 8230164 4385 7251 300143 1319351 MRPS7 mitochondrial ribosomal protein S7 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008] 17 17 17 q25 69850098 69854805 + 70769385 70774049 + 73257749 73262457 + 6480464 17353931;15489334;15342556;12706105;12477932;11543634;11402041;11279123;11042152;10581179;8889548;8125298;21145461;18029348;20877624;22939629;16196087;20186120;20360068;21890473;21906983;21963094;22505724 51081 J3KSI8;J3KSV8;J3QKW2;J3QLS3;J3QQS1;Q9Y2R9 AB051348;ABBA01028806;AC022211;AF077042;AK222995;AK313854;AMYH01008632;BC000241;BC050641;BG034193;BP379038;BU599633;BU684092;CH471099;NM_015971 AAD27775;AAH00241;ADZ15993;BAB54938;BAD96715;BAG36582;EAW89261;EAW89262;NP_057055;Q9Y2R9 Hs.71787 2110579;2154188 MRPS7_2936;RH47314 MRP-S;MRP-S7;RP-S7;RPMS7;S7mt;bMRP27a 28S ribosomal protein S7, mitochondrial;30S ribosomal protein S7 homolog;bMRP-27a APPROVED protein-coding ENSG00000125445 14499 17601 611974 REVIEWED 1353071 MRX22 mental retardation, X-linked 22 4386 7252 1351396 MRX23 mental retardation, X-linked 23 7240710 8852668 4387 1338389;1769434;7187628 DXS1220;DXS424 7253 1346341 MRX24 mental retardation, X-linked 24 7726242 4388 7254 1351625 MRX26 mental retardation, X-linked 26 8826459 4390 7256 1349721 MRX27 mental retardation, X-linked 27 8826461 4391 7257 1345127 MRX3 mental retardation, X-linked 3 7240710 4368 7260 309541 1344038 MRX28 mental retardation, X-linked 28 8826462 4392 7258 732788 MRS2 MRS2 magnesium homeostasis factor homolog (S. cerevisiae) 6 6 6 p22.3-p22.1 25636588 25659248 + 24511132 24533795 + 24403153 24425816 + 1580863;6480464 19270501;19242098;18384665;15489334;15342556;14702039;14574404;12477932;11401429;9110174;8619474;20877624;17207965;21906983;22190034 57380 B4DMD9;B4DQL2;F5GWH3;H7BZ29;Q9HD23 ABBA01066534;AF052167;AF288288;AF293076;AF293077;AF293078;AK054587;AK291058;AK297418;AK298849;AK299825;AL359713;AMYH01016151;BC001028;BC018833;BC069009;BP338269;CH471087;NM_020662 AAG01170;AAH01028;AAH69009;AAK38615;AAK38616;AAK38617;ADQ32050;BAF83747;BAG51394;BAG59851;BAG60974;BAG61694;EAW55445;EAW55446;EAW55447;NP_065713;Q9HD23 Hs.744054 1663699;1681801;1792852;2129634;5016478;5021872;5022200;5022651;5037552 D11S2921;D8S2279;GDB:434012;L18426;PMC166143P10;RH69657;RH80641;WI-20721;sY3084 HPT;MGC78523;MRS2L MRS2-like protein;MRS2-like, magnesium homeostasis factor;OTTHUMP00000016085;OTTHUMP00000016086;magnesium transporter MRS2 homolog, mitochondrial protein-coding ENSG00000124532 13785 17603 VALIDATED 1348148 MRX29 mental retardation, X-linked 29 7240710 9001795 4393 7259 300004;300215;300419;308350;309510 1346336 MRX32 mental retardation, X-linked 32 7240710 8826457 4396 7263 300004;300215;300419;308350;309510 1342773 MRX31 mental retardation, X-linked 31 7240710 8826460 4395 7262 300220;300438;300705 1344151 MRX35 mental retardation, X-linked 35 8825049 4400 7266 1349429 MRX33 mental retardation, X-linked 33 8826462 4398 7264 1348398 MRX36 mental retardation, X-linked 36 7240710 4401 7267 300004;300215;300419;308350;309510 1343421 MRX38 mental retardation, X-linked 38 8826457 4403 7269 1347024 MRX39 mental retardation, X-linked 39 4404 7270 1350718 MRX37 mental retardation, X-linked 37 8826456 4402 7268 1345153 MRX4 mental retardation, X-linked 4 3177465;1605216 4366 7271 1349391 MRX40 mental retardation, X-linked 40 7581391 4405 7272 1342788 MRX42 mental retardation, X-linked 42 7240710 4406 7274 1350766 MRX44 mental retardation, X-linked 44 7240710 10398246 4408 7276 309549 1346244 MRX43 mental retardation, X-linked 43 7240710 10398246 4407 7275 300004;300215;300419;308350;309510 1354129 MRX45 mental retardation, X-linked 45 7240710 10398246 4409 7277 300498 1347536 MRX47 mental retardation, X-linked 47 7240710 9332663 4411 7279 300558 1344090 MRX49 mental retardation, X-linked 49 7240710 9415477 4412 1334909;1339235 DXS7107;DXS8051 7281 1352994 MRX5 mental retardation, X-linked 5 1673297;1605216 4369 7282 1344369 MRX25 mental retardation, X-linked 25 1362558 4389 7255 1346622 MRX52 mental retardation, X-linked 52 7240710 10398246 4415 7285 1348467 MRX51 mental retardation, X-linked 51 10398244 4414 7284 1343090 MRX53 mental retardation, X-linked 53 7240710 4416 1338447;1339061 DXS1072;DXS8081 7286 1351965 MRX50 mental retardation, X-linked 50 7240710 9415477 4413 7283 1353684 MRX54 mental retardation, X-linked 54 7240710 10398243 4417 7287 300004;300215;300419;308350;309510 1348299 MRX56 mental retardation, X-linked 56 4419 7289 1348445 MRX58 mental retardation, X-linked 58 7240710 10449641 4421 7291 300210 1350356 MRX55 mental retardation, X-linked 55 7240710 9599645 4418 7288 309500 1344831 MRX57 mental retardation, X-linked 57 4420 7290 1348336 MRX59 mental retardation, X-linked 59 7240710 10398241 4422 7292 300630 1346420 MRX6 mental retardation, X-linked 6 (Okinawa type) 1605216 4370 7293 1346876 MRX60 mental retardation, X-linked 60 7240710 4423 7294 300486 1344401 MRX61 mental retardation, X-linked 61 4424 7295 1349894 MRX63 mental retardation, X-linked 63 7240710 4426 7297 300387 1352478 MRX62 mental retardation, X-linked 62 4425 7296 1351278 MRX64 mental retardation, X-linked 64 9222958 4427 7298 1343065 MRX65 mental retardation, X-linked 65 10398247 4428 7299 1353838 MRX67 mental retardation, X-linked 67 23699 7301 1344436 MRX66 mental retardation, X-linked 66 23700 7300 1343370 MRX7 mental retardation, X-linked 7 1605216 4371 7304 1349954 MRX68 mental retardation, X-linked 68 23698 7302 1346898 MRX69 mental retardation, X-linked 69 23697 7303 1349994 MRX70 mental retardation, X-linked 70 23696 7305 1344803 MRX72 mental retardation, X-linked 72 7240710 11050621 23695 1340490 DXS1073 7306 300271 1348254 MRX73 mental retardation, X-linked 73 7240710 11477616 23694 1340456;1702866 DXS365;DXS8019 7307 1352081 MRX74 mental retardation, X-linked 74 23693 7308 1344865 MRX75 mental retardation, X-linked 75 10946355 89760 7309 1346843 MRX76 mental retardation, X-linked 76 57193 7310 1348650 MRX77 mental retardation, X-linked 77 7240710 12949971 93991 15824 1346839 MRX79 mental retardation, X-linked 79 7240710 12325019 353505 17571 105830;300055;300260;300496;300673;312750 5552950 MRVI1-AS1 MRVI1 antisense RNA 1 11 11 p15.4 10517884 10578055 + 10562783 10621479 + 12477932;16344560 100129827 Q8N6V7 ABBA01061156;ABBA01061157;AC009532;AC021914;AI075905;AMYH01003390;BC028123;BI520309;BU569149;BU570065;CH471064;DB071465;DB454301;NR_034093;NR_034094;NR_046374;NR_046375 AAH28123;EAW68564 Hs.246769 1339052;1658332;1658340;1697738;1724651;1850676;2121565;2141353;5113647;7183825 D11S1128;D11S4465;D11S4637;RH102391;RH121326;RH12873;RH92575;STS-AA028016;WI-21997 APPROVED miscrna ENSG00000177112 43434 VALIDATED 1343830 MRX8 mental retardation, X-linked 8 1605216 4372 7311 1351127 MRX80 mental retardation, X-linked 80 12949969 378483 18872 1346112 MRX81 mental retardation, X-linked 81 7240710 12673650 266678 1335909;7183753 DXS1039;DXS1216 19301 1353449 MRX78 mental retardation, X-linked 78 7240710 170530 17942 1344112 MRX86 mental retardation, X-linked 86 25212 1352445 MRX84 mental retardation, X-linked 84 7240710 15326629 378882 20228 1346143 MRXS7 mental retardation, X-linked, syndromic 7 7240710 4429 1339972;7187954 DXS1106 7313 1342815 MRX82 mental retardation, X-linked 82 7240710 15526294 378484 21626 1343284 MRXS10 mental retardation, X-linked, syndromic 10 7240710 50828 18223 300220;300438;300705 1352701 MRXS11 mental retardation, X-linked, syndromic 11 7240710 10677307 50644 1341161 DXS1047 13865 1351748 MRX9 mental retardation, X-linked 9 7240710 1605216 4373 7312 309549 1343315 MS multiple sclerosis 7240710 1383661 4397 7314 126200 1323307 MRTO4 mRNA turnover 4 homolog (S. cerevisiae) This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 17905060 17913606 + 19450662 19459209 + 19578075 19586622 + 6480464 16710414;15489334;15342556;14702039;12477932;12429849;21145461;18239623;11790298;17082780;18029348;19797078;20083226;20379614;18212063;22939629;21139048;21906983;21907836;21044950;20360068;22586326;21048991;22952844 51154 Q9UKD2 ABBA01059755;AF173378;AK024227;AK027569;AK295328;AL035413;AMYH01000314;AY303790;BC003013;BC006504;BP312953;BQ670859;CH471134;NM_016183 AAD52608;AAH03013;AAH06504;AAP68821;BAB55205;BAG51275;BAG58304;EAW94873;EAW94874;EAW94875;NP_057267;Q9UKD2 Hs.463797 2123291;2191747;5016596;5022651;5037552;5112153 D11S2921;D8S2279;GDB:631802;MARC_6491-6492:996689696:1;RH101990;SHGC-74311 C1orf33;MRT4;dJ657E11.4 60S acidic ribosomal protein PO;MRT4, mRNA turnover 4, homolog;OTTHUMP00000002580;chromosome 1 open reading frame 33;mRNA turnover protein 4 homolog;ribosomal protein, large, P0-like APPROVED protein-coding ENSG00000053372 18477 12725 REVIEWED 1350443 MS4A16 membrane-spanning 4-domains, subfamily A, member 16 414354 E9PIL9;E9PPA2;E9PRA6;E9PRG6;F6X344;H0YD53 30706 3457221 MS4A18 membrane-spanning 4-domains, subfamily A, member 18 11 11 11 q12.2 57860995 57875673 + 60246245 60268043 + 60489669 60511467 + 728588 H0YCH9;Q3C1V0 AB231761;ABBA01021513;ABBA01021514;AMYH01003668;AP004243;XM_001715696;XM_003403639;XM_003960499 BAE46897;Q3C1V0;XP_001715748;XP_003403687;XP_003960548 Hs.739039 OTTHUMP00000236471;membrane-spanning 4-domains subfamily A member 18;membrane-spanning 4-domains, subfamily A, member 18 protein-coding 37636 MODEL 1606059 MS4A13 membrane-spanning 4-domains, subfamily A, member 13 11 11 11 q12.2 57647152 57674463 + 60039462 60066770 + 60282886 60310194 + 12477932 503497 E9PPG1;Q5J8X5 AA431602;ABBA01021511;AMYH01003665;AMYH01003666;AMYH01003667;AP001034;AY324188;AY324189;AY324190;BC140799;BC171746;NM_001012417;NM_001100909;NM_001278320 AAI40800;AAI71746;AAQ94112;AAQ94113;AAQ94114;NP_001012417;NP_001094379;NP_001265249;Q5J8X5 Hs.523704 1731537 D11S1253 OTTHUMP00000236381;OTTHUMP00000236382;OTTHUMP00000236383;membrane-spanning 4-domains subfamily A member 13;testis-expressed transmembrane protein 4;testis-expressed transmembrane-4 protein protein-coding ENSG00000204979 16674 17604 VALIDATED 1316696 MS4A10 membrane-spanning 4-domains, subfamily A, member 10 Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] 11 11 11 q12.2 57917033 57932993 + 60309397 60325354 + 60552821 60568778 + 11486273;11401424;11245982;12477932 341116 Q96PG2 ABBA01021514;AF354934;AF354935;AK122633;AMYH01003668;AP004243;BC137259;BC137263;CH471076;NM_206893 AAI37260;AAI37264;AAL07361;AAL07362;BAC85498;EAW73900;NP_996776;Q96PG2 Hs.591956 5015404;5016478;5020414;5020740;5022578;5023353;5024413;5037552 D1S1423;D8S2279;D8S467;GDB:434012;L17688;L17705;L17809;L17877 CD20L7;FLJ16054;MS4A9 CD20 antigen-like 7;OTTHUMP00000236476;membrane-spanning 4-domains subfamily A member 10 APPROVED protein-coding ENSG00000172689 13368 16330 608403 VALIDATED 1606761 MS4A14 membrane-spanning 4-domains, subfamily A, member 14 11 11 11 q12.2 57527870 57549614 + 59920063 59941805 + 60163487 60185229 + 6480464 14702039;12477932;20237496;16344560 84689 E9PIL9;E9PJE3;E9PPA2;E9PRA6;E9PRG6;F6X344;H0YD53;Q96JA4 ABBA01021510;AF367473;AK057418;AK314674;AL137391;AMYH01003663;AP003127;AY094610;AY094611;AY584610;BC035361;BC064627;BC107431;BC121039;BC121040;CH471076;DB082055;DB450359;DB727789;NM_001079692;NM_001261827;NM_001261828;NM_032597;NR_049731;NR_049732;NR_049733;NR_049734 AAI07432;AAI60053;AAK53409;AAM48587;AAM48588;AAV91959;CAB70719;EAW73884;EAW73885;EAW73886;NP_001073160;NP_001248756;NP_001248757;NP_115986;Q96JA4 Hs.709736 1647963;1680986;1732241;1855378;2116194;2185997 A009H24;D11S1812;RH17567;RH46578;RH46991;SGC34191 MGC104289;MGC49828;MS4A16;NYD-SP21 MS4A13 protein;OTTHUMP00000236361;OTTHUMP00000236362;OTTHUMP00000236363;OTTHUMP00000236364;OTTHUMP00000236365;OTTHUMP00000236366;OTTHUMP00000236367;OTTHUMP00000236369;membrane-spanning 4-domains subfamily A member 14;membrane-spanning 4-domains, subfamily A, member 16;testes development-related NYD-SP21;testis development protein NYD-SP21 protein-coding ENSG00000166928 30706 14863 VALIDATED 1344858 MS4A4B membrane-spanning 4-domains, subfamily A, member 4B 11401424 83665 AF237913 13372 1348230 MS4A4C membrane-spanning 4-domains, subfamily A, member 4C 11245982;11401424 64228 AF237914 13381 1344823 MS4A4D membrane-spanning 4-domains, subfamily A, member 4D 11401424 83664 AF237915 13373 1603162 MS4A15 membrane-spanning 4-domains, subfamily A, member 15 11 11 11 q12.2 57888546 57908417 + 60280916 60300780 + 60524340 60544204 + 6480464 16554811;15489334;14702039;12477932;11181995 219995 E7ET34;F2Z2J5;Q8N5U1 ABBA01021514;AK091846;AK300233;AMYH01003668;AP004243;AY584608;AY584609;BC031610;BI818815;CH471076;CR747020;DC359370;NM_001098835;NM_001278242;NM_152717;NR_103481 AAH31610;AAV91957;AAV91958;ADZ16103;BAG62001;EAW73898;EAW73899;NP_001092305;NP_001265171;NP_689930;Q8N5U1 Hs.207465 FLJ34527;MGC35295 OTTHUMP00000236472;OTTHUMP00000236473;OTTHUMP00000236475;membrane-spanning 4-domains subfamily A member 15 protein-coding ENSG00000166961 28573 17532 VALIDATED 1316189 MS4A12 membrane-spanning 4-domains, subfamily A, member 12 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 11 11 11 q12 57624519 57639170 + 60016827 60031479 + 60260251 60274903 + 1580863 18451174;15489334;15342556;14702039;12477932;11486273;11401424;19781065;17207965 54860 E9PIX5;E9PNI3;Q9NXJ0 ABBA01021511;AK000224;AMYH01003664;AP001034;BC029793;BP262076;BP262976;CH471076;NM_001164470;NM_017716 AAH29793;ADQ31896;BAA91020;EAW73893;NP_001157942;NP_060186;Q9NXJ0 Hs.272789 2219176 MS4A12_2955 Ms4a10 OTTHUMP00000229465;OTTHUMP00000229466;membrane-spanning 4-domains subfamily A member 12 APPROVED protein-coding ENSG00000071203 13370 08410 606550 REVIEWED 1348228 MS4A4E membrane-spanning 4-domains, subfamily A, member 4E Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] 11 11 11 q12.2 57333103 57374946 - 59737138 59754099 - 59968726 60010561 - 1580863;6480464 11486273;21460840;20379614;23118302 643680 B4DT89;E9PKS5;H0YEM0;Q96PG1 AB231725;AB231726;AB231727;AB231728;AB231729;AB231730;AB231731;ABBA01021510;AF354936;AK300102;AMYH01003663;AP003970;XM_003119183;XM_003119500;XM_003960489 AAL07363;BAE46883;BAE46884;BAE46885;BAE46886;BAG61901;Q96PG1;XP_003119231;XP_003119548;XP_003960538 Hs.559934 1340920 D11S4191 OTTHUMP00000235781;OTTHUMP00000235782;membrane-spanning 4-domains, subfamily A, member 4E APPROVED protein-coding 14284 608401 MODEL 1347097 MS4A6B membrane-spanning 4-domains, subfamily A, member 6B 11401424 83663 AF237909 13376 1323750 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008] 11 11 q12 59979858 59994801 + 60223282 60238225 + 1580863;2316995;2316994;6480464;7240710 7538648;19911856 7920628;18029348;1535625;19513562;19513512;19246561;19211644;19153665;19136769;19111631;19054557;18652276;18426802;18346788;18324964;18095154;18006839;17712791;17362749;17336267;17299094;17268523;17000895;16923582;16923555;16285718;16095505;15927668;15638430;15489334;15480506;14976189;12920111;12835728;12704213;12603599;12477932;12447967;12393541;12218101;12144126;12075439;11169444;9933087;9814732;9169438;22130422;8816400;8701937;8325649;8125298;7684739;7678037;7545683;3871452;3260267;3117132;2466899;2466898;2456210;2448768;22490442;19000453;19207312;19276251;19641607;20038800;20237496;20354182;21048031;20674973;20815894;20350657;20660329;20191119;20641064;22171710;22664043;22758374;22914441;21348573;21092589;23031227;23182705;21444918;20458337;21839272;21961844;22517865;22315496;21630262;21258801;22514692;22692757;10808179;22685558;22843692 931 B4DT24;E9PKH8;E9PPL6;P11836 ABBA01021511;AK225630;AK292168;AK300025;AK310118;AMYH01003664;AP001034;AP003127;AW504475;BC002807;CD691924;CH471076;JA362570;L23415;L23418;L23419;M27394;M27395;NG_023388;NM_021950;NM_152866;X07203;X07204;X12530 AAA35581;AAA88911;AAH02807;ABM84433;ABM87498;BAF84857;BAG61836;CAA30179;CAA30180;CAA31046;CCA94567;EAW73889;EAW73890;EAW73891;EAW73892;NP_068769;NP_690605;P11836 Hs.712553 1298263;1298308;1667225;1675094;1679269;1687508;1737817;1742483;1754665;1795012;2118813;2177923;7186403 D11S3434;D11S4377;D17S934;D17S946;D17S949;GDB:197528;PMC87290P2;RH11466;RH93595;RH93627;SHGC-133022;SHGC-60212;STS-L23419 B1;Bp35;CD20;CVID5;LEU-16;MGC3969;MS4A2;S7 B-lymphocyte antigen CD20;B-lymphocyte cell-surface antigen B1;B-lymphocyte surface antigen B1;CD20 antigen;CD20 receptor;OTTHUMP00000236377;OTTHUMP00000236378;leukocyte surface antigen Leu-16 APPROVED protein-coding ENSG00000156738 7315 00204 112210;613495 REVIEWED 1350589 MS4A6C membrane-spanning 4-domains, subfamily A, member 6C 11401424 83662 AF237910 13377 1352118 MS4A6D membrane-spanning 4-domains, subfamily A, member 6D 11245982;11401424 64234 AF237911 13369 1350065 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012] 11 11 q12-q13 59612713 59622593 + 59856137 59865940 + 1599903;1580863;5131151;5131149;5131092;5131116;5131152;5131102;6480464;6907045;7240710 8817330;19218813;21320344;19862939;17430357;15480314;18269668 12697656;1386024;9169438;2448768;19514647;19479237;19288130;19264973;19258923;19247692;19131662;19028820;18974840;18949059;18931892;18691306;18579528;18534082;18379861;17703412;17686114;17178032;17121586;17088130;17014622;16867043;16839402;16839401;16750991;15953854;15528387;15489334;15479187;15453830;15316148;15087090;14687477;12919239;12903039;12753743;20554927;12477932;12422339;12393595;12217393;12082592;12047428;11758232;11702205;11447385;11368631;11245344;11150000;11142503;11134951;9379041;9341761;8995445;8968765;8842731;8805698;8188278;8094113;8071371;7920628;7612892;7528770;2146219;1535625;1533242;19913121;20536507;20628086;16344560;19416867;19356729;19559392;19824886;19948975;20028371;20085599;20358027;20395963;20503287;20703737;20716621;21061265;19796196;21832049;22845063;22150093;23643722;16002993 2206 E9PLJ1;Q01362 AB042033;AB080913;ABBA01021510;AK304487;AK310142;AMYH01003663;AP001181;BC074800;BC074843;CH471076;D10583;DA972757;GD138492;JF411082;M89796;NG_016014;NM_000139;NM_001256916;X66187 AAA60269;AAH74800;AAH74843;AEA50999;BAA01440;BAB17032;BAC66486;BAG65297;CAA46955;EAW73865;NP_000130;NP_001243845;Q01362 Hs.386748 1650904;1742321;1796358;1850954;5015828;5022578;5037552 D1S1423;D8S2279;GDB:187457;GDB:196337;IGERBE6;MS4A2_939;SGC35231 APY;ATOPY;FCER1B;FCERI;IGEL;IGER;IGHER;MS4A1 Fc fragment of IgE, high affinity I, receptor for; beta polypeptide;High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain);OTTHUMP00000235529;high affinity IgE receptor beta subunit;high affinity immunoglobulin epsilon receptor subunit beta;igE Fc receptor subunit beta;immunoglobulin E receptor, high affinity, beta polypeptide;membrane-spanning 4-domains subfamily A member 2;membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) APPROVED protein-coding 7316 00915 147050;147138 REVIEWED 1315944 MS4A4A membrane-spanning 4-domains, subfamily A, member 4A This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 11 q12 57412537 57440831 + 59804715 59833021 + 60048014 60076445 + 1580863;6480464 16303743;15489334;12477932;11486273;11401424;11245982;21460841 51338 F8W866;H0YE49;Q4JF27;Q96JQ5 AB013102;AB022821;ABBA01021510;AF068288;AF237912;AF350500;AF354928;AK075081;AK292089;AK314033;AMYH01003663;AP003127;AP003970;BC020648;BG538851;CB046393;CH471076;NM_001243266;NM_024021;NM_148975 AAF65507;AAH20648;AAK37594;AAL08486;AAL56220;ABM82321;ABM85499;BAB18738;BAB61018;BAC11389;BAF84778;BAG36743;EAW73873;EAW73874;EAW73875;NP_001230195;NP_076926;NP_683876;Q96JQ5 Hs.325960 1665941;2109527 MS4A4A_9706;WI-11578 4SPAN1;CD20-L1;CD20L1;HDCME31P;MGC22311;MS4A4;MS4A7 CD20 antigen-like 1;Fc epsilon receptor beta subunit homolog;OTTHUMP00000206999;OTTHUMP00000235783;four-span transmembrane protein 1;membrane-spanning 4-domains subfamily A member 4A;membrane-spanning 4-domains, subfamily A, member 4;membrane-spanning 4-domains, subfamily A, member 4A APPROVED protein-coding ENSG00000110079 13371 08408 606547 REVIEWED 1321597 MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 57188482 57202973 + 59580677 59595164 + 59824101 59838588 + 1580863;6480464 15830103;15671017;15489334;12477932;11781350;11486273;11401424;7524084;20237496;20677014;20800603;17207965;19818099;22367966 932 E9PRW8;Q96HJ5 ABBA01021510;AL601630;AMYH01003663;AP000790;AY095480;AY258289;BC008487;BE564041;BF210971;BG495577;CH471076;L35848;NM_001031666;NM_001031809;NM_006138 AAA62319;AAH08487;AAM23312;AAP14648;ADQ31573;EAW73863;EAW73864;NP_001026836;NP_001026979;NP_006129;Q96HJ5 Hs.99960 1744207;1796360 GDB:437690;MS4A3_941 CD20L;HTM4 CD20 antigen homolog;CD20 antigen-like protein;IgE receptor beta chain;IgE receptor beta subunit;OTTHUMP00000235850;OTTHUMP00000235851;OTTHUMP00000235853;hematopoietic cell 4 transmembrane protein;hematopoietic-specific transmembrane protein 4;membrane-spanning 4-domains subfamily A member 3 APPROVED protein-coding ENSG00000149516 7317 09403 606498 REVIEWED 1345611 MS4A8A membrane-spanning 4-domains, subfamily A, member 8A 11245982 64229 AB026044 13379 1350963 MS4A5 membrane-spanning 4-domains, subfamily A, member 5 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008] 11 11 11 q12 57561382 57579583 + 59953638 59971841 + 60197062 60215265 + 1580863;6480464 15489334;12477932;11486273;11401424;11245982;11162526;20237496 64232 E9PKT5;H0YD29;H0YDK1;Q9H3V2 AB013103;ABBA01021510;AF237907;AF321127;AMYH01003663;AP003127;BC029884;CH471076;CS072269;HC007172;HC044577;NM_023945 AAH29884;AAK01641;AAK37416;BAB18739;CAI93407;CBH19391;CBH30618;EAW73887;EAW73888;NP_076434;Q9H3V2 Hs.178066 CD20-L2;CD20L2;MGC34184;TETM4 CD20 antigen-like 2;OTTHUMP00000236370;OTTHUMP00000236373;membrane-spanning 4-domains subfamily A member 5;testis-expressed transmembrane protein 4;testis-expressed transmembrane-4 protein APPROVED protein-coding ENSG00000166930 13374 07578 606499 REVIEWED 1345095 MS4A6E membrane-spanning 4-domains, subfamily A, member 6E This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 57466739 57472825 + 59858931 59865017 + 60102355 60108441 + 1580863;6480464 15489334;12477932;11486273;21460841;17207965 245802 H0YD45;H0YEW2;Q96DS6 ABBA01021510;AF333758;AF354931;AF354932;AF354933;AMYH01003663;AP003127;BC034588;BC069322;BC101783;CH471076;HC007174;NM_139249 AAH34588;AAH69322;AAI01784;AAL07358;AAL07359;AAL07360;AAQ14868;ACT64587;ACT64588;ADQ32925;CBH19392;EAW73876;NP_640342;Q96DS6 Hs.662211 2151005 STS-H59599 MGC126832 OTTHUMP00000235787;OTTHUMP00000235788;membrane-spanning 4-domains subfamily A member 6E APPROVED protein-coding ENSG00000166926 14285 12227 608402 REVIEWED 6480414 MSANTD2P1 Myb/SANT-like DNA-binding domain containing 2 pseudogene 1 21 q21.2 24473509 24475393 + 100130310 ABBA01057186;AMYH01012169;AP001116;NG_021997 pseudo 39637 INFERRED 1323386 MS4A6A membrane-spanning 4-domains, subfamily A, member 6A This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011] 11 11 11 q12.1 57303467 57315061 - 59695656 59707250 - 59939080 59952139 - 1580863;6480464 15489334;12477932;11486273;11401424;11245982;21460840;20237496;20453000;16344560;22382309 64231 B4DUN6;E7EMT7;E9PJ78;E9PL03;E9PMN8;E9PNG6;E9PSA9;F8W9K1;G5EA21;H0YEM2;Q9H2N3 AB013104;ABBA01021510;AF142409;AF172819;AF212240;AF237908;AF253977;AF261136;AF286866;AF350502;AF350503;AF354930;AK026454;AK291870;AK300725;AK301387;AMYH01003663;AP003970;AV720078;BC022854;BC108728;CD684503;CH471076;DA917243;DA979138;DC295707;NM_001247999;NM_022349;NM_152851;NM_152852 AAG27920;AAG41780;AAG44626;AAG44672;AAH22854;AAI08729;AAK37417;AAK37994;AAL07357;AAL56222;AAL56223;AAQ13613;ABM84437;ABM87483;BAB18740;BAF84559;BAG62398;BAG62926;EAW73866;EAW73867;EAW73868;EAW73869;EAW73870;EAW73871;EAW73872;NP_001234928;NP_071744;NP_690590;NP_690591;Q9H2W1 Hs.523702;Hs.744079 1668818;1695944;1768189;2150700;2151005;5019164 G30259;RH103082;SHGC-78903;STS-AA031623;STS-H59599;WI-14132 4SPAN3;4SPAN3.2;CD20L3;CDA01;MGC131944;MGC22650;MS4A6;MST090;MSTP090 CD20 antigen-like 3;CD20-like precusor;HAIRB-iso;MS4A6A-polymorph;OTTHUMP00000235530;OTTHUMP00000235531;OTTHUMP00000235532;OTTHUMP00000235770;OTTHUMP00000235771;OTTHUMP00000235772;four-span transmembrane protein 3;four-span transmembrane protein 3.1;four-span transmembrane protein 3.2;membrane-spanning 4-domains subfamily A member 6A;membrane-spanning 4-domains, subfamily A, member 6A, isoform 2 APPROVED protein-coding ENSG00000110077 13375 09414 606548 REVIEWED 5013873 MSANTD3-TMEFF1 MSANTD3-TMEFF1 readthrough This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013] 9 q 103204188 103339918 + 20967262 100526694 L7N486;Q8IYR6 ABBA01042885;ABBA01042886;AL353805;AL354917;AL831919;AMYH01021572;NM_001198812 CAD38580;NP_001185741 Hs.598100 1660996;2108577;2170843;2170845;2181992 A007J17;RH47334;RH47356;RH48042;TMEFF1_8835 C9orf3-TMEFF1;C9orf30-TMEFF1;DKFZp761G1118 C9orf30-TMEFF1 fusion protein;MSANTD3-TMEFF1 fusion protein;OTTHUMP00000220352 APPROVED protein-coding ENSG00000251349 38838 VALIDATED 1342483 MSBP1 minisatellite binding protein 1 3243550 4431 7318 1348826 MSBP2 minisatellite binding protein 2, 77kDa 2062643 4432 7319 1346252 MSBP3 minisatellite binding protein 3, 115kDa 2062643 4433 7320 1319151 MS4A8 membrane-spanning 4-domains, subfamily A, member 8 This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 57831254 57847490 + 60223623 60239860 + 60467047 60483284 + 1580863;6480464 15489334;12477932;11486273;11401424;11245982;17207965;23348583 83661 E9PJN8;E9PQE1;H0YD94;Q9BY19 ABBA01021513;AF237905;AF350504;AK308413;AK310872;AK310884;AK310969;AK315901;AMYH01003668;AP004243;BC022895;CH471076;NM_031457 AAH22895;AAK37414;AAL56224;ADQ32253;BAF98792;EAW73897;NP_113645;Q9BY19 Hs.150878 1737937;2114709;2130777 AFM350wa9;D11S3543;WI-14145 4SPAN4;CD20L5;MS4A4;MS4A8B OTTHUMP00000236467;OTTHUMP00000236468;four-span transmembrane protein 4;membrane-spanning 4-domains subfamily A member 8;membrane-spanning 4-domains subfamily A member 8B;membrane-spanning 4-domains, subfamily A, member 8B APPROVED protein-coding ENSG00000166959 13380 08409 606549 REVIEWED 1347317 MSD microcephaly with spastic diplegia (Paine syndrome) 7240710 4434 7322 1602271 MSGN1 mesogenin 1 2 2 2 p24.2 17878053 17878634 + 17861267 17861848 + 17997786 17998367 + 6480464 11181995;10837126 343930 A6NI15 ABBA01018508;AC093731;AMYH01010143;CH471053;NM_001105569 A6NI15;AAI72301;EAX00863;NP_001099039 Hs.705359 MSOG OTTHUMP00000214050;mesogenin-1;pMesogenin1;pMsgn1;paraxial mesoderm-specific mesogenin1;paraxial mesogenin protein-coding ENSG00000151379 14907 612209 PROVISIONAL 1313641 MS4A7 membrane-spanning 4-domains, subfamily A, member 7 This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 11 11 11 q12 57510336 57527810 + 59902534 59920003 + 60145958 60163427 + 1580863;6480464 16303743;15489334;14702039;12477932;11752456;11685457;11486273;11401424;11245982;16169070;20379614 58475 E9PIV6;E9PL98;E9PM26;E9PN40;Q9GZW8 AB026043;ABBA01021510;AF201951;AF237916;AF309653;AF350501;AK075106;AK297027;AK309884;AMYH01003663;AP003127;AV685115;AV690480;BC020673;CA449361;CD518120;CD706728;CH471076;CQ783142;CR457187;NM_021201;NM_206938;NM_206939;NM_206940 AAF17243;AAG30930;AAH20673;AAK37599;AAL56221;ABM85500;BAB18755;BAC11405;BAG59556;CAF86349;CAG33468;EAW73877;EAW73878;EAW73879;EAW73880;EAW73881;EAW73882;EAW73883;NP_067024;NP_996821;NP_996822;NP_996823;Q9GZW8 Hs.530735 1647963;1680986;2116194;2162263;2175089 A009H24;D11S3999;RH46578;RH46991;WI-12101 4SPAN2;CD20L4;CFFM4;MGC22368;MS4A8 CD20 antigen-like 4;CD20/Fc-epsilon-RI-beta family member 4;OTTHUMP00000235790;OTTHUMP00000235791;OTTHUMP00000235792;OTTHUMP00000236358;four-span transmembrane protein 2;high affinity immunoglobulin epsilon receptor beta subunit;membrane-spanning 4-domains subfamily A member 7 APPROVED protein-coding ENSG00000166927 13378 07579 606502 REVIEWED 1604952 MSANTD1 Myb/SANT-like DNA-binding domain containing 1 4 4 4 p16.3 3162291 3169866 + 3220565 3235638 + 3250767 3258342 + 6480464 12477932 345222 D6R9L8;D6RD98;D6RDG6;Q6ZTZ1 ABBA01029474;AK126094;AL390059;AL645949;AMYH01013887;BC043530;CH471131;NM_001042690 BAC86436;EAW82473;NP_001036155;Q6ZTZ1 Hs.442291 C4orf44 OTTHUMP00000217075;OTTHUMP00000222907;OTTHUMP00000222908;OTTHUMP00000222909;hypothetical protein LOC345222;myb/SANT-like DNA-binding domain-containing protein 1;uncharacterized protein C4orf44;uncharacterized protein MSANTD1 APPROVED protein-coding 33741 16084 VALIDATED 1606219 MSANTD2 Myb/SANT-like DNA-binding domain containing 2 11 11 11 q24.2 121796569 121830500 - 124141604 124175509 - 124636394 124670299 - 19240061;15489334;14702039;12477932;16169070 79684 B4E1M0;E9PPE2;Q6P1R3 ABBA01031252;AK026995;AK092413;AK303902;AL512691;AMYH01004103;AP000866;BC064919;CH471065;H97225;NM_024631 AAH64919;BAB15618;BAG52548;BAG64832;CAC21648;EAW67600;EAW67601;NP_078907;Q6P1R3 Hs.146079 1685329;1691266;1722701;1737887;1772243;2110917;2190605 D11S1236;D11S3490;D11S979E;G60435;HUEST-D29618;RH46280;RH78808 C11orf61;FLJ23342 OTTHUMP00000231531;OTTHUMP00000231532;OTTHUMP00000231533;hypothetical protein LOC79684;myb/SANT-like DNA-binding domain-containing protein 2;uncharacterized protein C11orf61;uncharacterized protein MSANTD2 APPROVED protein-coding ENSG00000120458 26266 08024 VALIDATED 1603604 MSANTD4 Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 11 11 11 q22 103042885 103057210 - 105383839 105398164 - 105878629 105892954 - 11256614;16381901;15489336;14702039;12477932;11347906;11230166;11076863;20379614;21693764;19471022 84437 E9PKC8;E9PLV2;E9PRK0;Q8NCY6 AB058729;ABBA01039900;AF253976;AI399910;AK027790;AK293050;AL834523;AMYH01004007;AP000813;BC041118;CH471065;NM_032424 AAG44625;AAH41118;BAB47455;BAB55371;BAF85739;CAD39179;CAL38238;EAW67071;NP_115800;Q8NCY6 Hs.266782 2180860 T03488 KIAA1826 OTTHUMP00000232288;OTTHUMP00000232289;coiled-coil domain-containing protein KIAA1826;hypothetical protein LOC84437;myb/SANT-like DNA-binding domain-containing protein 4 APPROVED protein-coding ENSG00000170903 29383 11163 VALIDATED 1603187 MSANTD3 Myb/SANT-like DNA-binding domain containing 3 9 9 9 q31.1 73702878 73726749 + 102229463 102253334 + 103189495 103214016 + 6480464 15334068;14702039;12477932;15146197;16344560;21139048;19322201 91283 Q96H12 ABBA01042885;ABBA01042886;ABBA01042887;AK092292;AK314924;AL353805;AMYH01021572;AY598327;BC008993;BI596498;BI600290;BM914752;BU620865;CH471105;CN366267;DA424604;DR159535;NM_001198805;NM_001198806;NM_001198807;NM_080655 AAH08993;AAT06738;BAG37432;EAW58932;EAW58933;NP_001185734;NP_001185735;NP_001185736;NP_542386;Q96H12 Hs.530272;Hs.732964 1644499;1660996 RH48042;SHGC-58270 C9orf30;FLJ34973;L8;MGC17337 OTTHUMP00000021792;OTTHUMP00000021793;OTTHUMP00000021794;UPF0439 protein C9orf30;hypothetical protein LOC91283;myb/SANT-like DNA-binding domain-containing protein 3 APPROVED protein-coding 23370 14459 VALIDATED 5133069 MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring mutS homolog 5 (MSH5) and chromosome 6 open reading frame 26 (C6orf26) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 p 31707725 31732627 + 8812450;20967262;2477242;18204446 100532732 A2BEX4;E9PGY4;H0YEB2;H0YF11 ABBA01038084;ABBA01038085;AJ245661;AL122094;AL662834;AL662899;AL844216;AMYH01016217;BX248133;BX248244;CR354443;CR759787;CR759915;CR925765;CR936239;NR_037846 CAB52406;CAB59262 Hs.647011 DKFZp434C1615;MSH5-C6orf26 APPROVED miscrna ENSG00000255152 41994 VALIDATED 731816 MSI1 musashi RNA-binding protein 1 This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008] 12 12 q24 119263516 119291341 - 120779133 120806983 - 1582664;633285;1580863;6480464;6907045 15250238;12205668 18419830;19214660;18826648;18473332;18471519;9790759;19258308;17549630;16777095;16541075;16214366;16106215;14702039;12924647;12907678;12054577;11951628;11896183;11686236;11588182;11359897;11284014;20727204;16169070;19714342;21199875;21832049;21881409;21829201;21442350;21751144;21139048;21890473;21906983;22012766;23164718;22258704;22113197;21165952;22985791;23017339 4440 H0YHB7;O43347 AB012851;AB072590;AB072591;AB072592;AB073212;ABBA01020110;AC003982;AI583233;AK023262;AMYH01004799;BX393884;CH471054;HB886867;HC944276;NM_002442 AAB95636;AAI40381;AAI46464;BAA33962;BAB69767;BAB69768;BAB69769;BAB70469;BAG51178;CBF67590;CBU92464;EAW98185;EAW98186;EAW98187;NP_002433;O43347 Hs.158311 1723431;2136098 RH118532;WI-17776 OTTHUMP00000240865;RNA-binding protein Musashi homolog 1;musashi-1;musashi1 APPROVED protein-coding ENSG00000135097 7330 04509 603328 REVIEWED 1313556 MSC musculin The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008] 8 8 8 q21 68753235 68756193 - 72916331 72919285 - 72753777 72756731 - 1580863;6480464 9584154;18368067;16344560;16189514;15489334;15052269;12477932;11560778;10198176;9767165;8889548;20634891 9242 O60682 ABBA01041951;AC104012;AF060154;AF087036;AK313102;AMYH01018784;BC006313;BC067827;BM685164;BT007169;CH471068;DB257094;NM_005098 AAC15071;AAC69870;AAH06313;AAH67827;AAP35833;ADZ15935;EAW86984;NP_005089;O60682 Hs.442619 1335425;1677618;1796362 D8S570;MSC_943;RH93930 ABF-1;ABF1;MYOR;bHLHa22 OTTHUMP00000226810;activated B-cell factor 1, homolog of mouse musculin;activated B-cell factor-1;class A basic helix-loop-helix protein 22;musculin APPROVED protein-coding ENSG00000178860 7321 04694 603628 REVIEWED 1349138 MSK10 antigen identified by monoclonal antibody AJ425 6593709 4448 7332 1319392 MSH4 mutS homolog 4 (E. coli) This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011] 1 1 p31 76035218 76151511 + 76262556 76378923 + 1580863;6480464 11950880;9299235;19064572;18270339;18166824;17977839;17869244;17127347;16122992;15907804;15489334;12591739;12477932;12095912;11948175;10809667;10928988;10029069;9787078;15304223;21126912;20378615;16344560 4438 O15457;Q5ZEZ0 ABBA01074414;ABBA01074415;ABBA01074416;AF104243;AJ844635;AL357314;AL445464;AMYH01000713;AMYH01000714;AMYH01000715;AMYH01000716;AY268350;BC033030;CH471059;DB077677;NG_029861;NM_002440;U89293 AAB72039;AAD17920;AAH33030;AAP03427;ABM82185;ABM85371;CAH59752;EAX06392;EAX06393;NP_002431;O15457 Hs.216639 2217642 MSH4_3337 OTTHUMP00000011349;hMSH4;mutS protein homolog 4 APPROVED protein-coding ENSG00000057468 7327 03658 602105 REVIEWED 1351323 MSK32 antigen identified by monoclonal antibody K66 3456173 4467 7356 1349659 MSK34 antigen identified by monoclonal antibody CNT/6 4469 7358 1348234 MSK38 antigen identified by monoclonal antibody O5 4473 7362 1344255 MSK9 antigen identified by monoclonal antibody K15 6593709 4447 7369 1353031 MSH3 mutS homolog 3 (E. coli) The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011] 5 5 q11-q12 79986050 80208390 + 79950467 80172634 + 1625103;1600456;1580863;2306716;6480464;6907045 9401011;8782829;18157157 15541380;8942985;11809883;11756455;11005803;11427529;14657349;16388310;17715146;19377479;19237606;19115210;19064572;18922920;18723338;18701435;18683134;18676680;18364438;18355840;17950544;17676485;17494052;17456004;17205513;16774946;16552576;15489334;14871813;14625810;14510941;12477932;12014680;11920679;11895912;10944853;10871409;8851770;8838312;8029024;6323448;2722860;10029069;9774676;12171929;11274057;14578343;11498787;21974800;22249440;21285347;17148452;19170196;19536092;19596235;19625176;19692168;19730683;19894224;19948975;20154325;20160730;20379614;20453000;20496165;20708618;19525234;20632816;20869096;19913121;20628086;19468048;20845481;22939629;22941650;8805365;21344488;21128252;17314511;18029348;21960445;21988832;23226332;21139048;21549307;21906983;22179786;23339595;22110587;22343000;20188637 4437 A1L480;P20585 AA601983;ABBA01062045;AC008434;AC010270;AC022493;AI817671;AK289856;AMYH01015445;AY275681;BC004177;BC011817;BC017273;BC098436;BC130434;BC130436;BF593920;CH471084;D61419;J04810;NG_016607;NM_002439;U61981 AAB06045;AAB47281;AAH11817;AAI30435;AAI30437;AAP13535;BAD27111;BAF82545;EAW95861;EAW95862;NP_002430;P20585 Hs.280987;Hs.648635 1750975;1778590;1785696;1785788;1788106;1788108;1788110;1788112;1788114;1789142;1792356;1797886;1853588;2114875;2147239 G20893;G65717;G67223;G67224;G67225;G67226;G67227;L28413;MSH3_467;PMC149466P1;SHGC-104881;SHGC-31088;SHGC-79040;SHGC-85199;WI-18379 DUP;MGC163306;MGC163308;MRP1 DNA mismatch repair protein Msh3;OTTHUMP00000222287;divergent upstream protein;hMSH3;mismatch repair protein 1 APPROVED protein-coding ENSG00000113318 7326 02931 600887 REVIEWED 1343663 MSH5 mutS homolog 5 (E. coli) This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011] 6 6 p21.3 31815753 31838432 + 31707725 31730455 + 1580863;6480464 14656967;9916805;9740671;9787078;19143821;19143814;18978787;18459961;18270339;18166824;17977839;17869244;17672918;17409188;17127347;16122992;15907804;15489334;14718574;14702039;14574404;12477932;10029069;8812450;2477242;12591739;15304223;22401567;16712791;20185565;18204446;19442657;19808033;19851445;20378615;20542071;20587610;20848568;21906983;22917773 4439 A2ABE9;A2ABF0;A2ABF1;A2BEX1;A2BEX2;A2BEX3;A2BF01;A3KGM4;A3KGM5;A3KGM6;A3KGM7;A3KGM9;A3KGN0;A3KGN1;A3KGN2;B0UXD5;B0UXD6;B0UXD7;B0V0L9;B4DZX3;E9PGY4;H0YDS7;H7C2J4;H7C572;H7C5D6;O43196;Q5SSR2;Q9UFG2 AB209886;ABBA01038084;ABBA01038085;AF034759;AF048986;AF048991;AF070071;AF070079;AF129756;AF134726;AK097233;AK303129;AK304221;AL662834;AL662899;AL844216;AMYH01016217;AY943816;BA000025;BC001358;BC002498;BC041031;BF116106;BG719397;BT007200;BX248133;BX248244;CB155199;CH471081;CR354443;CR759787;CR759915;CR925765;CR936239;DB448226;NG_011611;NM_002441;NM_025259;NM_172165;NM_172166 AAB87632;AAC62533;AAC62534;AAC70066;AAC70067;AAD18072;AAD21822;AAH01358;AAH02498;AAH41031;AAP35864;AAX20111;BAB63375;BAD93123;BAG53438;BAG64235;BAG65093;EAX03506;EAX03507;EAX03508;EAX03509;EAX03510;EAX03511;EAX03512;EAX03513;EAX03514;EAX03515;EAX03516;EAX03517;EAX03518;EAX03519;EAX03520;NP_002432;NP_079535;NP_751897;NP_751898;O43196 Hs.647011 1699840;1713867;2106207;2106209;2106211;2189741;5015404;5015861;5015879;5016478;5020740;5020946;5022200;5022450;5022463;5022578;5022588;5024413;5024516;5037552;5118444;7185938 21-8631;D10S16;D10S275;D11S3316;D13S1568;D1S1423;D3S1673;D5S1597E;D6S2780;D6S2781;D8S2279;GDB:314949;GDB:434012;L17705;L17809;L17877;L17971;L18426;N3_2_1;RH103527;RH119364 DKFZp434C1615;G7;MGC2939;MutSH5;NG23 OTTHUMP00000029187;OTTHUMP00000029188;OTTHUMP00000174479;OTTHUMP00000174480;OTTHUMP00000215252;OTTHUMP00000215278;OTTHUMP00000236429;hMSH5;mutS protein homolog 5 APPROVED protein-coding ENSG00000204410;ENSG00000255152 7328 04544 603382 REVIEWED 732745 MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 2 2 p21 47483767 47563864 + 47630206 47710367 + 1580863;1625106;2298950;2298951;2293507;2293517;2293519;2293516;2293523;2293505;2293511;2293524;2293528;2293506;2293514;2293504;2293509;2293512;2293513;2306716;2293502;2293503;2293515;2306714;6480464;6907045;7240710 15571801;17983514;17925543;16996262;15338238;14735197;15492498;11920468;17394628;16288216;10769643;10625070;17390069;15870899;17596548;16426918;16252083;16217293;18157157;18389386;18254781;15807307;11900875 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586326;21744313;21865299;22234160;22493490;18247557;21319273;21660619;22386861;22635031;22902628;15225546;21156417;23434150;23703321;23000965;22776989;23376256;22456432;22614019;22781090;20188637;22190034;22219001;22581703;22797925;22883484 4436 C9J809;E9PHA6;P43246 ABBA01075162;ABBA01075163;ABBA01075164;ABBA01075165;AC079775;AC138655;AF066081;AK222860;AK223284;AK296831;AK297763;AK299667;AK304496;AK311330;AMYH01010324;AMYH01010325;AMYH01010326;AY344477;AY601851;BC001122;BC012599;BC021566;BX649122;CB250419;CH471053;DC342099;DQ648894;DQ648895;DQ648896;DQ648897;L47574;L47575;L47576;L47577;L47578;L47579;L47580;L47581;L47582;L47583;NG_007110;NM_000251;NM_001258281;U03911;U04045;U41221 AAA18643;AAA61870;AAA76858;AAA82080;AAB59564;AAB59565;AAB59566;AAB59567;AAB59568;AAB59569;AAB59570;AAB59571;AAB59572;AAC27930;AAH21566;AAQ23475;AAS99351;AAY15096;ABG49489;ABG49490;ABG49491;ABG49492;ABM83484;ABM86698;BAD96580;BAD97004;BAG59401;BAG60111;BAG61581;BAG65304;EAX00213;EAX00214;EAX00215;NP_000242;NP_001245210;P43246 Hs.597656 1688614;1745289;1745295;1745301;1745303;1745305;1745307;1745309;1745311;1745313;1745315;1745317;1745319;1745321;1745323;1745325;1789256;2107415;2120026;2125164;2158009;5117412;5122448 D2S2563;G65627;GDB:549135;GDB:599286;GDB:599300;GDB:599318;GDB:599321;GDB:599324;GDB:599327;GDB:599341;GDB:599344;GDB:599347;GDB:599356;GDB:599360;GDB:599364;GDB:599367;GDB:599372;GDB:599380;MSH2_3164.2;RH70533;RH93469;SHGC-2762;WI-18791 COCA1;FCC1;HNPCC;HNPCC1;LCFS2 DNA mismatch repair protein Msh2;OTTHUMP00000159084;OTTHUMP00000200306;hMSH2;mismatch repair protein;mutS protein homolog 2 APPROVED protein-coding ENSG00000095002 7325 00389 120435;158320;276300;609309 REVIEWED 1344504 MSL3P1 male-specific lethal 3 homolog (Drosophila) pseudogene 1 2 2 2 q37.1 228494505 228497478 - 234438814 234441829 - 234774083 234777055 - 20479123;16227571 151507 P0C860 AA806373;ABBA01001951;AC005538;AK301707;AK316372;AMYH01011581;AW371403;BI831020;CH471063;DB457661;DC394932;NR_024322 BAG63179;BAH14743;EAW71066;P0C860 Hs.355809 1773115;1805338;1805678;1839796;1949460;1949462;1949464;1949466;1949468;1949470;1949472;1949474;1949476;1949478;1949480;1949482;1949484;1949486;1949488;1949490;1949492;1949494;1949496;2201538;2201540;2201544;5095058;5113561 ECD03616;ECD03789;ECD21081;MSL3L1;REN45578;REN45579;REN45580;REN45581;REN45582;REN45583;REN45584;REN45585;REN45586;REN45587;REN45588;REN45589;REN45590;REN45591;REN45592;REN45593;REN45594;REN45595;REN45596;RH27237;SHGC-32403;stSG620218;stSG620219;stSG620221 FLJ79271;MSL3L2 MSL3-like 2;male-specific lethal-3 homolog 2;putative male-specific lethal-3 protein-like 2 APPROVED pseudo ENSG00000224287 17837 VALIDATED 1351302 MSLNL mesothelin-like 16 16 16 p13.3 1019315 1032813 - 759429 772927 - 819428 831996 - 6480464 11157797;21841505;22265842 401827 H0YG18;Q96KJ4 ABBA01030345;AE006464;AL031258;AMYH01007006;AMYH01007007;BK008392;CH471112;NG_032123 AAK61254;EAW85716;EAW85717;EAW85718;Q96KJ4 C16orf37;MPFL MPF-like;OTTHUMP00000239445;megakarycyte potentiating factor;mesothelin-like protein;pre-pro-megakaryocyte-potentiating-factor-like pseudo 14170 INFERRED 1343514 MSL2 male-specific lethal 2 homolog (Drosophila) 3 3 3 q22.3 134293973 134340053 - 137350450 137397378 - 135867760 135914688 - 6480464 21726816;16543150;16344560;16227571;14702039;12698291;12477932;10997877;9409833;20479123;20936779;23084835;19033443;20360068;20686565 55167 C9IZ03;C9IZG7;C9J5S2;Q9HCI7 AB046805;ABBA01059132;ABBA01059133;ABBA01059134;ABBA01059135;AC092991;AK001408;AK091956;AK292557;AK302491;AL834289;AMYH01013519;AMYH01013520;AW237818;AW271295;BC032719;BC093764;BC093790;CH471052;DA674784;DC409643;NM_001145417;NM_018133 AAH32719;AAH93764;AAH93790;BAA91673;BAB13411;BAF85246;BAG63776;CAD38963;EAW79119;EAW79120;NP_001138889;NP_060603;Q9HCI7 Hs.18631 FLJ10546;FLJ54913;KIAA1585;MSL-2;MSL2L1;RNF184 E3 ubiquitin-protein ligase MSL2;MSL2-like 1;OTTHUMP00000216516;OTTHUMP00000216517;OTTHUMP00000216518;OTTHUMP00000216519;OTTHUMP00000216520;male-specific lethal 2 homolog;male-specific lethal 2-like 1;male-specific lethal 2-like 1 (Drosophila);male-specific lethal-2 homolog 1;ring finger protein 184 protein-coding ENSG00000174579 25544 08550 614802 VALIDATED 2307385 MSL1 male-specific lethal 1 homolog (Drosophila) 17 17 17 q21.1 34939245 34953515 + 35532316 35546568 + 38278790 38293042 + 6480464 16543150;16227571;14702039;12698291;12477932;21726816;20479123;18029348;19650074;23084835;19471022;20360068;18654987;21217699 339287 B3KWR7;J3KRQ4;J3KSZ8;J3KTC2;J3QQY0;Q68DK7 ABBA01031843;ABBA01031844;AC068669;AK055378;AK124185;AK125654;AK297619;AL049450;AMYH01008381;BC039449;BC118997;BC122543;BX647188;CR749360;NM_001012241;R23466 AAI18998;AAI22544;ACE86689;ACE87373;BAG54229;BAG59995;CAH10734;CAH18213;NP_001012241;Q68DK7 Hs.532786 1644623;1652038;1797136 A006V28;LOC339287;WI-17575 DKFZp686J17211;MGC141861;MSL-1;hMSL1 MSL1-like 1;male-specific lethal 1 homolog;male-specific lethal 1-like 1;male-specific lethal-1 homolog 1 protein-coding 27905 614801 VALIDATED 1352746 MSI2 musashi RNA-binding protein 2 This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q22 51795383 52219094 + 52688930 53112298 + 55333931 55757299 + 6480464;6907045 18815193;15489334;14702039;12649177;12477932;11588182;10737800;21145461;20823875;20639863;20936779;20379614;19913121;20628086;20000738;21753187;21139048;21890473;21906983;22113197;23233047;22784712 124540 B4DHE8;B4DM51;J3KTC1;J3QKT5;Q96DH6 ABBA01041313;ABBA01041314;ABBA01041315;ABBA01041316;AC005325;AC007431;AC015883;AC091181;AI798817;AK093888;AK295060;AK297295;AMYH01008505;AMYH01008506;AMYH01008507;BC001526;BC017560;BE836557;BX647939;CH471109;HB886953;HC944362;NM_138962;NM_170721 AAH01526;AAH17560;ABM83243;ABM86445;BAC04244;BAG58109;BAG59763;CBF67633;CBU92507;EAW94506;EAW94507;EAW94508;EAW94509;EAW94510;EAW94511;EAW94512;NP_620412;NP_733839;Q96DH6 Hs.658922 1336513;1338477;1339459;1339660;1340048;1342059;1646601;1665113;1686432;1722635;1731503;1755625;1758429;1760891;1788962;1796364;1847199;2152251;2156523;2171435;2180014;2184901;5024039;5109281;7185698 D16S325;D17S1153;D17S1160;D17S1605;D17S1606;D17S1853;D17S666;D17S890;D17S957;D1S1425;G60401;G65557;MSI2_1543;RH12431;RH45027;RH78952;RH91828;SGC30816;SHGC-142480;SHGC-144556;SHGC-148302;STS-H08804;STS-H84456;WI-17928 FLJ36569;MGC3245;MSI2H RNA-binding protein Musashi homolog 2;musashi homolog 2;musashi-2 APPROVED protein-coding ENSG00000153944 18585 07438 607897 REVIEWED 1605696 MSL3 male-specific lethal 3 homolog (Drosophila) This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010] X X X p22.3 15904870 15922463 + 11686199 11703793 + 11776278 11793872 + 6480464 16344560;10395802;16227571;15489334;15302935;12477932;10908644;20479123;20943666;21832049;20360068;21890473;21217699 10943 A6NLU8;B7Z227;C9JKR8;C9JXM9;F8WC61;H7BYE4;Q8N5Y2 ABBA01070944;ABBA01070945;AC004554;AF117065;AK000793;AK025642;AK289780;AK294255;AK300814;AK304419;AL050178;AL713667;AMYH01022084;BC010925;BC017267;BC031210;BI091178;BI560203;CH471074;CT002798;DA788603;DA961602;NG_012564;NM_001193270;NM_006800;NM_078628;NM_078629 AAD38499;AAH31210;ABM82587;ABM85774;BAF82469;BAG62470;BAG65249;BAH11713;CAB43308;CAD28473;EAW98799;EAW98800;EAW98801;EAW98802;NP_001180199;NP_006791;NP_523352;NP_523353;Q8N5Y2 Hs.655288 1650021;1670571;1680088;1773115;1949478;2191289;2201542;5095058;5113561 DXS6995E;G22307;MARC_17111-17112:1020872220:1;MSL3L1;REN45587;RH27237;RH77758;SHGC-32403;stSG620220 DKFZp586J1822;MSL3L1 MSL3-like 1;OTTHUMP00000022908;OTTHUMP00000022909;OTTHUMP00000022911;OTTHUMP00000022912;drosophila MSL3-like 1;male-specific lethal 3 homolog;male-specific lethal 3-like 1;male-specific lethal-3 homolog 1;male-specific lethal-3 protein-like 1 APPROVED protein-coding ENSG00000005302 7370 05344 300609 REVIEWED 1343506 MSNL2 moesin-like 2 8188263 4480 7375 1353422 MSNP1 moesin pseudogene 1 5 5 5 p14.1 25795245 25799108 + 25945176 25949239 + 25909416 25913387 + 8188263 4479 ABBA01066645;AC109469;AC113370;AMYH01014977;NG_003032 1676384;1739505;5106110 D0S17715;MSN;RH41126 MSNL1 APPROVED pseudo 7374 INFERRED 1321738 MSH6 mutS homolog 6 (E. coli) This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] 2 2 p16 47863725 47887596 + 48010221 48034092 + 1625103;1580863;1625106;1600460;2293507;2293511;2293502;2306716;2293503;2293505;2306714;4143515;6480464;6907045;7240710 9401011;15571801;7604266;16996262;16288216;18389386;18157157;18254781;17394628;11900875;19078924 15105434;16403449;12034830;8942985;11809883;11756455;11801590;11005803;14657349;16388310;17715146;19635727;19622357;19536092;19526325;19492230;19337631;19254532;19248684;19244167;19237606;19237577;19215248;19173809;19486659;19351817;19132747;19115210;19075283;19064572;19012493;18972272;18950845;18851982;18841495;18790734;18759827;18723338;18701435;18676680;18625694;18624996;18566915;18554281;18523027;18514060;18484749;18481196;18409202;18364438;18355840;18326858;18301448;18269114;18257912;18091433;18065960;18033691;18030674;17942459;17920897;17854147;17785078;17718861;17676485;17653898;17557300;17498565;17493242;17456004;17454882;17353931;17348456;17312306;17259174;17205513;17108146;17095871;17081983;17039270;16964243;16902769;16885385;16807412;16774946;16771955;16740762;16638864;16636019;16565220;16418736;16408224;16344560;17438703;17417778;16237223;16203774;16116158;16106253;16051665;15952990;15855819;15808853;15805151;15613860;15489334;15365995;15302935;15274658;15098177;15064730;15043999;14974087;14961575;14767555;14645426;14585961;14520694;14500385;12974384;12920072;12799449;12732731;12574395;12537658;12522549;12477932;12376742;12171929;12019211;11877377;11807791;11709755;11600610;11586295;11524701;11498787;11474654;11333868;11274057;11245474;10954713;10871409;10783165;10537275;10521294;10508506;10480359;9774676;9491849;9455487;9428522;9354786;8838326;8782829;7604265;7604264;10029069;15753043;18247557;21145461;22287095;22902628;21425258;20800603;20850175;21056691;21107085;20495877;20632815;17148452;19170196;19582761;19584161;19625176;19685280;19692168;19707776;19723918;19787250;19861671;19876921;19898223;19900449;19924528;20028567;20028993;20029092;20064472;20085707;20149637;20160730;20206180;20453000;20496165;19714462;20591884;19851887;16260778;21081928;20872076;21642682;21035467;17314511;21710692;21855803;21685187;20937110;23301373;20223108;22863883;23045530;22495361;22939629;23622243;21437237;19553677;21836479;20015892;21155762;22814321;23434150;23752268;21559014;20924129;21252943;22331944;21334712;21431882;10856833;16391231;19596686;21674763;21937421;22484182;22586326;21911971;21139048;21549307;21725088;21890473;21906983;21987572;22108332;22232658;23401454;22918162;20473970;22250089;10748159;19471022;22277660;22164234;20301390;21075794;21963094;22113938;23000965;23313663;15225546;19377479;23365123;22776989;22851212;22456432;20188637;22053931;22219001;22505724;22581703;22672937 2956 B4DF41;C9J7Y7;C9J8Y8;C9JH55;F5H2F9;F8W7G9;F8WAX8;P52701;Q3SWU9 ABBA01075173;ABBA01075174;ABBA01075175;ABBA01075176;AC006509;AK130683;AK293921;AK304735;AK308392;AMYH01010329;AY082894;BC004246;BC071594;BC104665;CH471053;D89645;D89646;DA857066;NG_007111;NM_000179;NM_001281492;NM_001281493;NM_001281494;U28946;U54777;U73737;Y16676 AAB39212;AAB47425;AAC50461;AAH04246;AAI04666;AAL87401;ABM83824;BAA23673;BAA23674;BAA23675;BAG57302;BAG65496;CAC79990;EAX00208;EAX00209;NP_000170;NP_001268421;NP_001268422;NP_001268423;P52701 Hs.445052 1683819;1745877;1745879;1788316;1788318;1788320;1788322;1788324;1788626;1793692;2119936;2148514;5118061 G67491;G67492;G67493;G67494;G67495;GDB:681244;GDB:681246;GDB:681248;PMC262342P1;RH126790;RH75921;SHGC-32288;WI-20981 GTBP;GTMBP;HNPCC5;HSAP;p160 DNA mismatch repair protein Msh6;G/T mismatch-binding protein;GTMBP;OTTHUMP00000159397;hMSH6;mutS-alpha 160 kDa subunit;p160;sperm-associated protein APPROVED protein-coding ENSG00000116062 7329 07202 276300;600678;608089;614350 REVIEWED 2304156 MSMP microseminoprotein, prostate associated This gene encodes a member of the beta-microseminoprotein family. Members of this protein family contain ten conserved cysteine residues that form intra-molecular disulfide bonds. The encoded protein may play a role in prostate cancer tumorigenesis. [provided by RefSeq, Jan 2011] 9 9 9 p13.3 35686542 35687823 - 35742991 35744272 - 35752987 35754274 - 17338636;12477932;11053263 692094 Q1L6U9 ABBA01064987;AL133410;AMYH01019347;BC071800;BC105274;BE439525;CH471071;DQ012170;NM_001044264 AAY68208;EAW58344;NP_001037729;Q1L6U9 Hs.571601 1678753;2191811 MARC_8221-8222:996688418:1;RH80781 PC-3;PSMP OTTHUMP00000216248;PC3 prostate cancer cell-secreted microprotein;PC3-secreted microprotein;prostate-associated microseminoprotein;secreted microprotein PC-3 APPROVED protein-coding ENSG00000215183 29663 612191 REVIEWED 1349818 MSLN mesothelin This gene encodes a precursor protein that is cleaved into two products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiation factor functions as a cytokine that can stimulate colony formation in bone marrow megakaryocytes. Mesothelian is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] 16 16 p13.3 751134 758866 + 810765 818865 + 1580863;2326065;2326052;2326064;2326057;2326046;2326055;2326059;2326056;2326062;2326060;6480464 12874021;19843662;16416732;17581599;18505465;19818733;17276942;18281514;17785569;17019794 14676194;8552591;19293794;19075018;19020717;19010822;18978568;18691948;18670302;22237988;22351743;22412141;18546615;18394747;18347077;18316566;18281122;18245228;18167128;18154821;18064689;18042078;17803679;17598982;17067392;16857795;16677756;16638849;16602701;16467095;16428485;15897581;15623661;15616553;15489334;15217923;15140265;12477932;11157797;10683314;10500211;9178820;8288629;7665620;22729037;22149739;21508397;21288909;21483773;20573372;20593939;20815094;20596597;18788634;19747165;19858537;20131968;20349783;20453000;22113177;22787150;21515913;21574151;22939629;22721387;21397972;21333373;21775916;22377706;20943257;21632639;21780126;21775819;21841505;21880146;23277285;21999204;22320398;22371455;21988832;23064529;23225411;23249166;23267165;23093275;22792233;23034174;22386954 10232 H3BMA1;H3BR90;H3BUX1;H3BV92;Q9UCB2 ABBA01030345;ABBA01030346;ABBA01030347;AE006464;AF180951;AL031258;AL545401;AMYH01007004;AMYH01007005;AY743922;BC003512;BC009272;CB266931;CH471112;D49441;NM_001177355;NM_005823;NM_013404;U40434 AAC50348;AAF01409;AAH03512;AAH09272;AAK61253;AAV87530;ABM82874;ABW03459;BAA08419;EAW85719;EAW85720;EAW85721;NP_001170826;NP_005814;NP_037536;Q13421 Hs.408488 1657293 RH71325 CAK1;MPF;SMR;SMRP CAK1 antigen;OTTHUMP00000045636;megakaryocyte potentiating factor;mesothelin;pre-pro-megakaryocyte-potentiating factor;soluble MPF mesothelin related protein APPROVED protein-coding ENSG00000102854 7371 03030 601051 REVIEWED 6483870 MSRB1P1 methionine sulfoxide reductase B1 pseudogene 1 19 q13.2 39745559 39745909 - 20060832 441849 ABBA01040723;AC011445;AMYH01009791;NG_030284 pseudo 43985 INFERRED 69208 MSMB microseminoprotein, beta- The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q11.2 51219559 51232601 + 51549553 51562517 + 1580863;6480464;7240710 7608123;7506990;6434350;3995056;3829888;2758596;2590204;2475560;2322265;2054385;2037304;1930232;1783399;7566962;19434657;19423541;19407392;19383797;19366831;19342788;19318432;19153072;19081476;19026612;18794092;18264097;18264096;18222915;17634540;17493883;17237810;17062675;16930619;15950934;15489334;15344909;12477932;12032598;11788998;10810306;10491085;9774712;8978767;8117114;7671139;21240253;21160077;20424135;20569440;19549807;19900942;19902474;19997100;20184897;20333697;20450899;20460480;20564319;20690139;20696662;20736317;20676098;20717903;20878950;20967219;21071540;20676114;20680031;16341674;21085629;22993349;22887727;23608167;21832049;21743057;22496651;22661295;23375721;23269536 4477 P08118 ABBA01033535;ABBA01033536;ABBA01033537;AJ133356;AK312108;AL450342;AMYH01002693;BC005257;BF680662;BM856408;BT006816;CH471260;CR457015;D28485;M15885;M34376;NG_011551;NM_002443;NM_138634;S67815;U22178;U78976;X57928;X57929;X57930;X57931 AAA36635;AAA59871;AAA83556;AAB29732;AAB37355;AAH05257;AAP35462;ABM83424;ABM86637;BAG35044;CAA41002;CAB39325;CAG33296;EAW53683;EAW53684;EAW53685;NP_002434;NP_619540;P08118 Hs.255462 2113938;2133884;2171788 MSMB;SGC35292;STS-X57928 HPC13;IGBF;MSP;MSPB;PN44;PRPS;PSP;PSP-94;PSP57;PSP94 OTTHUMP00000019596;OTTHUMP00000019597;beta-microseminoprotein;immunoglobulin binding factor;immunoglobulin-binding factor;microseminoprotein, beta;prostate secreted seminal plasma protein;prostate secretory protein of 94 amino acids;prostatic secretory protein 94;seminal plasma beta-inhibin APPROVED protein-coding ENSG00000138294 7372 01143 157145;611928 REVIEWED 1351511 MSRB3 methionine sulfoxide reductase B3 The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010] 12 12 12 q14.3 65337946 65526205 + 63958755 64146954 + 65672423 65860687 + 737633;6480464;7240710 12477932 22422452;15252450;15249228;14702039;14699060;12975309;19542914;19788859;21150874;17207965;21185009;20195514;22310715;22027001;22504421;22405767;22832960 253827 F5H199;F5H4C9;F5H6G9;F5H7C4;H0YFW5;H7C2B7;Q8IXL7 ABBA01026587;ABBA01026588;ABBA01026589;ABBA01026590;AC025419;AC026124;AC079948;AK094185;AK122602;AK293084;AK299065;AK316365;AL833622;AMYH01004551;AY358229;BC040053;BX500552;BX640871;BX648776;CH471054;DC357690;DQ786269;NG_023441;NM_001031679;NM_001193460;NM_001193461;NM_198080 AAH40053;AAQ88596;ADQ33079;BAF85773;BAG61131;BAH14736;CAE45929;CAI46018;EAW97151;NP_001026849;NP_001180389;NP_001180390;NP_932346;Q8IXL7 Hs.339024 1645115;1650039;1670019;1716443;1727471;1728189;1746263;1746399;1746495;1775545;1858259;2134722;2144977;5014051;5022578;5022651;5024039;5037552 D11S2921;D12S1426;D12S1448;D12S1500;D12S1954;D12S2202;D16S325;D1S1423;D8S2278;D8S2279;G09455;G62993;G63517;G64381;G64398;G64399;RH122228;WI-17915 DFNB74;DKFZp686C1178;FLJ36866 OTTHUMP00000239655;OTTHUMP00000239656;OTTHUMP00000239658;OTTHUMP00000239659;OTTHUMP00000239660;OTTHUMP00000239661;OTTHUMP00000239662;methionine-R-sulfoxide reductase B3;methionine-R-sulfoxide reductase B3, mitochondrial APPROVED protein-coding ENSG00000174099 27375 14785 613718;613719 REVIEWED 1343018 MSS Marinesco-Sjogren syndrome 7240710 2791656 4483 7378 248800 737148 MSMO1 methylsterol monooxygenase 1 Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q32-q34 163584245 163599652 + 166468268 166483675 + 166248818 166264316 + 1580863;6480464 8663358;18660489;16713569;15489334;12477932;21285510;21103663;22939629;8889548;18781797;21139048;21890473;21906983;21987572;19322201;22791750;22505724;21963094;23000965 6307 D6R952;D6RDP9;D6REA2;Q15800 ABBA01070291;AC012504;AK292418;AK295432;AK309206;AMYH01014673;AV704962;BC010653;BC107879;BU676028;BU940384;BX441001;CH471056;FB336810;HH768149;NM_001017369;NM_006745;U60205;U93162 AAB81566;AAC50587;AAH10653;AAI07880;ABM81986;ABM85163;BAF85107;BAH12066;CAR81350;CBX84826;EAX04820;EAX04821;NP_001017369;NP_006736;Q15800 Hs.105269 2115514;2138248;2148046;2169367;2173445;5037552 1362;A007J08;D8S2279;G33491;SHGC-33293;STS-D29470 DESP4;ERG25;MGC104344;SC4MOL C-4 methyl sterol;C-4 methylsterol oxidase;OTTHUMP00000219757;OTTHUMP00000219758;OTTHUMP00000219759;OTTHUMP00000219760;methylsterol monooxygenase;methylsterol monooxygenase 1;sterol-C4-methyl oxidase-like APPROVED protein-coding ENSG00000052802 10545 07396 607545 REVIEWED 1350588 MSSE multiple self-healing squamous epithelioma 7240710 9439661 4484 1335750;1341914 D9S197;D9S287 7379 132800;608967;609192 1345900 MSRB2 methionine sulfoxide reductase B2 10 10 p12 23424433 23450948 + 23384427 23410942 + 1580863;6480464 12477932;14699060;10375640;19237503;18977241;18424444;17943184;17601350;16480945;14980072;14759519;12220640;10810093;8749308;22634633;16385451;19542914;20877624;22939629;22145905;19322201;23251661 22921 H0YE51;Q9Y3D2 ABBA01034470;AF122004;AF151889;AL139281;AMYH01002186;BC018030;BC066305;BC117471;BC130380;CH471072;EF444983;NM_012228 AAD34126;AAD38899;AAH18030;AAI17472;AAI30381;ABZ92470;ACA05998;ACA05999;EAW86133;EAW86134;EAW86135;EAW86136;NP_036360;Q9Y3D2 Hs.461420 1337997;1696208;1780022;2109529;2125098;2142244;2185157 1434;D10S1660;MSRB_9285;RH44759;SHGC-154269;SHGC-79054;STS-N36938 CBS-1;CBS1;CGI-131;MGC26104;MSRB;PILB OTTHUMP00000019305;methionine-R-sulfoxide reductase B2, mitochondrial;methionine-r-sulfoxide reductase B2 variant 1;methionine-r-sulfoxide reductase B2 variant 3;pilin-like transcription factor protein-coding ENSG00000148450 17061 17606 613782 VALIDATED 1345100 MST1L macrophage stimulating 1-like 1 1 p36.13 16954188 16963562 - 17081401 17090975 - 1580863;6480464 10728827;10585770;22951037 11223 Q2TV78 AF083416;AF116647;AL021920;AMYH01000289;AY192149;NM_001271733;NR_002729;U28055 AAC35412;AAP20103;NP_001258662;Q2TV78 Hs.349110;Hs.655432 1685566;1697196;5018973;5105601;5125253;5125255 AL034008;D3S4175;RH102089;RH92673;SHGC-132146 BRF-1;D1F15S1A;MSPL-7;MSPL7;MST1P9;MSTP7;MSTP9 brain rescue factor 1;brain-rescue-factor-1;macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9;macrophage stimulating, pseudogene 7;macrophage stimulating, pseudogene 9;putative macrophage stimulating 1-like protein;putative macrophage-stimulating protein MSTP9 APPROVED protein-coding 7390 VALIDATED 1350087 MST1P2 macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 1 1 p36.2 16845384 16845783 + 16972069 16976915 + 10585770 11209 ABBA01004184;AF083410;AF083411;AF083412;AK293358;AK298457;AK311393;AL137798;AMYH01000282;AW629449;DC362930;NR_027504 BAG56874;BAG60670 Hs.349110 1685566 RH92673 FLJ18435;MSPL-1;MSPL-2;MSPL-3;MSPL1;MSPL2;MSPL3;MSTP1;MSTP2;MSTP3 APPROVED pseudo ENSG00000186301 7383 PROVISIONAL 1347158 MSR1 macrophage scavenger receptor 1 This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008] 8 8 p22 16009758 16094671 - 15965387 16050300 - 1582669;1580863;2306128;2306129;1582314;2306126;2306127;2306130;6480464;7240710 9069289;17510407;17389263;15567863;17945237;17903305;14664792 10381284;12376530;2251254;8093617;19261092;18676680;18660489;18566991;18503826;18436282;18398045;17805225;17768178;17709607;17627168;17361499;17237231;16750665;16598737;16425212;16344560;16287155;16144911;16114055;15824169;15734964;15714208;15556945;15493872;15489334;15042613;14759258;14695991;14614006;12958598;12839931;12819208;12477932;12471593;12244320;11785981;9548586;9422792;8900177;8394868;8391600;1519666;21460221;20414830;20802348;19120472;19170196;19625176;19692168;19715475;19790077;19911804;19914718;20081102;20086112;20379614;20410100;17207965;19913121;20384632;20485444;20628086;20717903;21077973;18922854;20338659;21280004;21203986;21658363;21596859;22878280;22470185;22470186;22282357;22429811;21565611;23334594;22687273;22763563 4481 B4DDJ5;E5RFI4;E5RFW8;E5RI91;F5GZJ2;H0YBY2;P21757 ABBA01021596;AC023396;AF037351;AK293217;AK293409;AMYH01018539;AMYH01018540;BC063878;CH471080;D13263;D13264;D13265;D90187;D90188;DA995755;DQ144993;JA885108;NG_012102;NM_002445;NM_138715;NM_138716;S70395 AAC09251;AAH63878;AAZ38715;ADQ31955;BAA14208;BAA14209;BAG56756;BAG56916;CCQ77679;EAW63830;EAW63831;EAW63832;EAW63833;EAW63834;NP_002436;NP_619729;NP_619730;P21757 Hs.147635 1688458;1734054;1744919;1794206;1794208;1794212;1849780;2151505 D8S1193;GDB:580807;PMC310830P18;PMC310830P19;PMC310830P21;RH17755;RH47928;SHGC-12479 CD204;SCARA1;SR-A;SRA;phSR1;phSR2 OTTHUMP00000120042;OTTHUMP00000120049;OTTHUMP00000120050;OTTHUMP00000225174;macrophage acetylated LDL receptor I and II;macrophage scavenger receptor type III;macrophage scavenger receptor types I and II;scavenger receptor class A member 1;scavenger receptor class A, member 1 2293393;2293425;2293451;2301805;2314781;2314791 BW512_H;GLUCO109_H;PRSTS204_H;PRSTS279_H;PRSTS281_H;PRSTS432_H APPROVED protein-coding ENSG00000038945 7376 01092 153622;176807;614266 REVIEWED 1312916 MSRB1 methionine sulfoxide reductase B1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein belongs to the methionine sulfoxide reductase (Msr) protein family which includes repair enzymes that reduce oxidized methionine residues in proteins. The protein encoded by this gene is expressed in a variety of adult and fetal tissues and localizes to the cell nucleus and cytosol. [provided by RefSeq, Mar 2012] 16 16 16 p13.3 2200442 2205502 - 1928235 1933295 - 1988234 1993294 - 1580863;6480464 22713178;14699060;18081029;17938273;15489334;12477932;11779133;11157797;11042152;10608886;10567350;8889548;21048031;21103663;20634897;23270945 51734 A8MYR2;H3BS64;H3BTT6;Q9NZV6 ABBA01030286;AC005363;AE006640;AF161388;AF166124;AF187272;AK026128;AMYH01007045;BC003127;CF134919;CH471112;NM_016332 AAF21429;AAF28948;AAG17033;AAH03127;AAK61300;EAW85600;EAW85601;NP_057416;Q9NZV6 Hs.655346 1679223;1682343;2109821 RH80593;RH93499;SEPX1_9756 HSPC270;MGC3344;SELR;SELX;SEPX1;SepR OTTHUMP00000159418;methionine sulfoxide reductase;methionine-R-sulfoxide reductase B1;selenoprotein R;selenoprotein X, 1 APPROVED protein-coding ENSG00000198736 14133 12095 606216 REVIEWED 737220 MSRA methionine sulfoxide reductase A This protein is ubiquitous and highly conserved. It carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. Its proposed function is the repair of oxidative damage to proteins to restore biological activity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 8 8 p23.1 9949236 10323805 + 9911830 10286401 + 1580863;6480464 15199188;10452521;19085252;18977241;18845237;18506707;17943184;17784942;17601350;16480945;16364291;16257642;16162094;15680232;15489334;14759519;12693988;12477932;12039877;8622914;22634633;19237503;19430479;19542914;19557161;19747232;19844733;20368336;20379614;20421936;20617525;20724581;20877624;20452100;19913121;20628086;20689807;20703240;20937881;21079812;22657383;21679298;22688191;23568457;21674055;21139048;21890473;22438829;23049088;23244167;22867795 4482 E5RIA9;E5RJK1;E9PJ70;H0YAN3;Q9UJ68 ABBA01026891;ABBA01026892;ABBA01026893;ABBA01026894;AC023385;AC034111;AC079200;AC112673;AF086925;AF183420;AI261219;AJ242973;AK293488;AK299948;AMYH01018472;AMYH01018473;AMYH01018474;AMYH01018475;AMYH01018476;AY690665;AY958429;AY958430;AY958431;AY958432;BC047552;BC054033;CH471157;CK819753;HB491939;NM_001135670;NM_001135671;NM_001199729;NM_012331 AAG09689;AAH54033;AAP97154;AAU11088;AAY17426;AAY17427;AAY17428;AAY17429;AAY17430;AAY17431;BAH11521;BAH13180;CAB59628;CBA34903;EAW65584;EAW65585;NP_001129142;NP_001129143;NP_001186658;NP_036463;Q9UJ68 Hs.490981 1335081;1339985;1690073;1706282;1716829;1778396;1779636;1779664;1779666;1786638;1786878;1793818;2108833;2115264;2136693;2149033;2151649;2157400;2160718;2167884;2170468;2180481;2180700;5106165;7187445 A005E28;D8S1721;D8S2099;D8S542;G09512;G31054;MSRA_8479;PMC291883P1;RH121709;RH12443;RH68910;RH98613;SGC30771;SHGC-147105;SHGC-153612;SHGC-153636;SHGC-153637;SHGC-17264;SHGC-58218;SHGC-80695;SHGC-84425;STS-AA017723;WI-11714;WI-16933 PMSR OTTHUMP00000115600;OTTHUMP00000224855;OTTHUMP00000224856;OTTHUMP00000224858;OTTHUMP00000229541;OTTHUMP00000230073;PMSR;cytosolic methionine-S-sulfoxide reductase;mitochondrial peptide methionine sulfoxide reductase;peptide Met(O) reductase;peptide met (O) reductase;peptide methionine sulfoxide reductase;peptide-methionine (S)-S-oxide reductase;protein-methionine-S-oxide reductase APPROVED protein-coding ENSG00000175806 7377 03152 601250 REVIEWED 1319740 MSS51 MSS51 mitochondrial translational activator 10 10 10 q22.2 68468933 68478915 - 74853343 74863325 - 75183337 75193319 - 6480464 15146197;12477932;16385451;21531385;19710419 118490 F6VAV3;Q4VC12 ABBA01020325;ABBA01020326;AK096884;AK309870;AL353731;AMYH01002828;BC094693;BC109255;BC109256;BX500736;BX537678;CH471083;CN395159;CR936824;NM_001024593 AAH94693;AAI09256;AAI09257;BAC04883;CAD97808;EAW54495;NP_001019764;Q4VC12 Hs.631823 1776484;5014051;5016478;5017266;5022200;5022651;5037295;5037552 D11S2921;D8S2278;D8S2279;GDB:434012;L18426;L18506;RH68072;ZMYND17__4955 FLJ39565;ZMYND17 MSS51 mitochondrial translational activator homolog;OTTHUMP00000019816;putative protein MSS51 homolog, mitochondrial;zinc finger MYND domain-containing protein 17;zinc finger, MYND-type containing 17 APPROVED protein-coding ENSG00000166343 21000 15742 614773 VALIDATED 732547 MSN moesin Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008] X X q11.1 64804236 64878518 + 64887511 64961793 + 1580863;6480464;6907045 16130169;10806479;22251897;22433855;12082081;15819698;1924289;11310834;10847681;10751793;10480873;10436021;9918767;9856983;9616160;9516463;9472040;9430655;9330869;9314537;9298994;9013673;8892894;8537411;8259662;8248180;7884872;7628534;7588875;7579708;15818415;9213396;15659383;17353931;12387735;18029348;8188263;19255442;19152423;19129194;19124745;19066282;19047065;18941185;18295815;17594689;17515952;17237445;17170707;17110458;16916647;16908865;16889625;15772651;15489334;15252013;15178693;15166166;15149851;15146197;15096511;15039356;14760079;12850829;12787041;12734202;12665801;12594175;12477932;12385025;12360288;12226091;12115638;12111362;12070130;11784723;11717582;11716484;11706008;11441066;22031288;22076435;22586326;20376899;19432821;15020681;19555429;19723803;19830727;19890007;19965872;7844168;20429915;21549406;21319273;20855527;20546116;20679347;22863883;21278261;21352885;22939629;20000738;21278069;21864676;21139048;21890473;21906983;21963094;18781797;20639865;21486194;21659656;22291017;22685202;22132106;22266319;21837648;22177047;22891241;16009940;19322201;21044950;21282464;19738201;21988832;22623428;23000965;23221384;23116763;23326330;23463506;22439598;17349711;22053931;22190034;22505724;22797925;23315217 4478 P26038;Q6PJT4 ABBA01067039;ABBA01067040;ABBA01067041;ABBA01067042;ABBA01067043;ABBA01067044;AK297165;AK308486;AK309986;AMYH01022504;BC001112;BC011827;BC017293;CH471132;CN386296;M69066;NG_012516;NM_002444;Z98946 AAA36322;AAH01112;AAH11827;AAH17293;ABM83579;ABM86818;BAH12513;CAB46379;EAX05398;EAX05399;NP_002435;P26038 Hs.87752 1342196;1666533;1668844;1676384;1701774;1739505;1740207;2140847;2180838;5106110;7185888 D0S17715;DXS1117E;DXS7086;DXS7588;DXS8029;MSN;RH41126;SGC30148;SHGC-60194;WI-9169 OTTHUMP00000023438;membrane-organizing extension spike protein;moesin APPROVED protein-coding ENSG00000147065 7373 02399 309845 REVIEWED 1315099 MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternatively spliced transcript variants encoding different isoforms with different structural and biochemical properties have been described (PMID:8816464). [provided by RefSeq, Oct 2011] 3 3 p21.3 49899439 49916310 - 49924435 49941306 - 1580863;6480464 15001985;9045873;10871856;7939629;19519771;19367581;19307182;19242504;19224914;19040718;18950514;18836480;18620091;18606710;18593918;18593464;18310076;18221954;18209063;18204077;18200509;18165235;18073207;18019691;17616662;17611409;17588532;17456594;17395888;17311308;16166746;16166096;15929040;15788670;15764806;15557181;15378025;15342556;15184888;14982882;14597639;12919677;12915129;12802274;12766581;12676986;12527888;12419829;12214279;8918464;8889548;8816464;8386824;8247543;8062829;7488076;16103119;19657358;19838218;19956854;20026054;20103639;20428780;20689759;20800603;20358644;16740632;20596668;19913121;20434834;20498137;20628086;20664977;21081472;21212418;21114864;22848655;23235762;22975341;21543897;21659546;21723047;21799005;21874262;21875933;21906983;21901254;21963094;22902361;22515290;22993024;22095683;22613539;22585712;14505491;22086736;23128233;22958871;22974584 4486 B4E058;H7C074;H7C3Z8;J3KQS7;Q04912 ABBA01024568;ABBA01024569;ABBA01024570;AC105935;AK303234;AMYH01013163;AMYH01013164;BP288515;BU542597;CA503122;CH471055;EU826582;EU826583;EU826584;EU826585;HQ908652;JN689381;JN689382;JN983806;NG_030322;NM_001244937;NM_002447;X70040 ACF47618;ACF47619;ACF47620;ACF47621;AEB22138;AEW68340;AEY68264;AEY68265;BAG64320;CAA49634;EAW65036;NP_001231866;NP_002438;Q04912 Hs.517973 1660013;2137369 RH18128;SHGC-11997 CD136;CDw136;PTK8;RON MSP receptor;MST1R variant RON30;MST1R variant RON62;OTTHUMP00000210451;OTTHUMP00000210452;OTTHUMP00000210454;OTTHUMP00000223157;PTK8 protein tyrosine kinase 8;RON variant 21;RON variant E2E3;c-met-related tyrosine kinase;macrophage-stimulating protein receptor;p185-Ron;soluble RON variant 1;soluble RON variant 2;soluble RON variant 3;soluble RON variant 4 APPROVED protein-coding ENSG00000164078 7381 02545 600168 REVIEWED 1348338 MSTP1 macrophage stimulating, pseudogene 1 p36.2 10585770 11210 AF083410;NG_001241 MSPL-1;MSPL1 pseudo 7382 1353718 MSTP3 macrophage stimulating, pseudogene 3 p36.2 10585770 11208 AF083412;NG_001239 MSPL-3;MSPL3 pseudo 7384 1343444 MSTP4 macrophage stimulating, pseudogene 4 p36.2 10585770 11207 AF083413;NG_001238 MSPL-4;MSPL4 pseudo 7385 1343322 MSTP5 macrophage stimulating, pseudogene 5 p36.2 10585770 11206 AF083414;NG_001237 MSPL-5;MSPL5 pseudo 7386 1345770 MSTP6 macrophage stimulating, pseudogene 6 p36.2 10585770 11205 AF083415;NG_001236 MSPL-6;MSPL6 pseudo 7387 1348559 MSTP7 macrophage stimulating, pseudogene 7 1 p36.2 16959851 16960261 - 10585770 11204 AF083416;AL021920;NG_001235 MSPL-7;MSPL7 pseudo 7388 1351890 MSTP8 macrophage stimulating, pseudogene 8 p36.2 10585770 11203 AF083417;NG_001234 MSPL-8;MSPL8 pseudo 7389 736655 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010] 3 3 p21 49696391 49701099 - 49721380 49726196 - 1580863;6480464 19221179;19212654;19079170;18700007;18587394;18480548;18438406;17554300;17554261;17456594;16335952;16170349;15764806;14597639;12919677;12477932;12177064;11856768;11274154;10728827;10068459;9045873;8889548;8702870;8621550;8393443;8125298;2902784;1827141;1655021;22554193;21212262;19950692;20171103;21151127;17347649;19456860;19657358;19836237;19861958;19915572;19944697;19956688;20014019;20024904;20307617;20513427;20228799;19760754;21072187;20921231;21102463;21081472;21228115;21297633;21249150;21619683;21723047;21875933;21931648;22087277;22245154;23347832;21572393;23011677;23128233;23386615 4485 F5H6L8;G3XAK1;H7C0F8;P26927;Q53GN8 ABBA01024577;AC099668;AK222893;AK294324;AK296192;AK298396;AK298452;AK309567;AMYH01013162;BC044862;BC048330;BM672747;CH471055;DC315638;L11924;M74178;NG_016454;NM_020998;U28054;U37055 AAA50165;AAA59872;AAC50471;AAC63092;AAH44862;AAH48330;BAD96613;BAH11736;BAH12279;BAH12774;BAH12793;EAW64999;EAW65000;EAW65001;EAW65002;EAW65003;NP_066278;P26927 Hs.349110;Hs.512587 1648120;1741309;1741429;1744543;1790319 APEH;GDB:180399;GDB:181206;GDB:512856;WI-16108 D3F15S2;DNF15S2;HGFL;MSP;NF15S2 OTTHUMP00000208927;hepatocyte growth factor-like protein;hepatocyte growth factor-like protein homolog;macrophage stimulatory protein;macrophage-stimulating protein APPROVED protein-coding ENSG00000173531 7380 00798 142408;614868 REVIEWED 1602108 MSX2P1 msh homeobox 2 pseudogene 1 17 17 17 q22 52696099 52698260 + 53589319 53591480 + 56234320 56236481 + 6480464 7518789 55545 Q14561 ABBA01041327;AC005962;AMYH01008511;NR_002307;X74862 CAA52855 Hs.381329 1792830 PMC164857P2 HPX5;HSHPX5;MSX2P pseudo 24976 PROVISIONAL 1625804 MSTO2P misato homolog 2 pseudogene 1 1 1 q22 128788550 128794311 + 153981917 153987589 + 155715559 155720479 + 16710414;16545939;12477932 100129405 ABBA01016687;AK293928;AL162734;AMYH01001432;BC099909;BF508805;CX784525;DC387604;NR_024117 BAG57308 Hs.656361;Hs.656547;Hs.720829 1669363;1672034;1686522;1851929;2132041 Cda1fe10;G34868;RH12479;RH16489;WI-16155 MSTO2 pseudo 26329 VALIDATED 1350040 MT-ATP6 mitochondrially encoded ATP synthase 6 MT 8528 9208 + 5490262;5490270;5490292;5508187;5490266;5490263;5490257;5490259;5490293;5490291;5490294;6480464 18461509;15709156;12618962;20454697;17568559;17619138;19626676;18708297;19026397;14598233;20450733 15931342;17300808;14748908;18055910;17342424;14697245;16611712;11925565;17121862;15965056;15228605;16217706;12133827;12915481;16751614;14499622;16060290;11130070;18409190;19077432;19066432;19050702;18481423;16604388 4508 Q0ZFE3;Q8HNQ4 AF347015 AAK17888;NP_536848 MTATP6 protein-coding 7414 516060 736334 MSTN myostatin The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. [provided by RefSeq, Jul 2008] 2 2 q32.2 190628671 190635700 - 190920426 190927455 - 1601298;1580863;704404;2303558;2303596;2303594;2303552;2303554;2303556;2303544;2303598;2303545;6480464;7240710 15215484;16807547;15738643;15758361;18578694;16968467;16837207;19125275;11481237;18997488 9843994;14517293;19533653;19453261;19422651;19346981;19299575;19277943;19237423;19232494;19136503;18835929;18801770;18596030;18567511;18563849;18535106;18335407;18284920;18240972;18203713;18175804;17823296;17711997;17703271;17673556;17609255;17186467;17003236;16849634;16464946;16437538;15567067;15489334;15181048;15083369;14623262;12595574;12477932;12209887;12194980;12175483;12165013;12060865;11555072;11519824;11459935;10844590;10610713;10508689;10362012;9356471;9288100;9139826;7558031;22568578;20301671;21104587;19147968;19591015;19751112;19828686;19918890;20026378;20044471;20237496;20536908;20186835;21283721;20161792;20734064;20640547;21832049;22968486;20930205;20801187;20884321;20648054;21164115;22621320;21900687;21228768;22802085;21463333;21507246;21508334;21665986;21273059;21139048;21605155;21931616;22052913;22916099;21450574;22615949;22209717;22395277;22426697;21900845;22324844;22081442;22693174;22818745 2660 O14793;Q53S46 ABBA01062382;AC073120;AF019627;AF104922;AK291524;AMYH01011344;BC074757;BX093210;CH471058;DQ927048;DQ927050;DQ927053;DQ927055;DQ927057;DQ927058;DQ927059;DQ927061;DQ927064;DQ927065;DQ927068;DQ927069;DQ927070;DQ927072;DQ927080;DQ927081;DQ927083;DQ927087;DQ927088;DQ927090;DQ927091;DQ927092;DQ927093;DQ927094;DQ927097;DQ927100;DQ927101;DQ927102;DQ927104;DQ927105;DQ927107;DQ927110;DQ927111;DQ927113;DQ927117;DQ927120;DQ927121;DQ927122;DQ927123;DQ927124;DQ927125;DQ927126;DQ927127;DQ927128;DQ927130;DQ927131;DQ927133;DQ927134;DQ927135;DQ927136;DQ927137;DQ927138;DQ927139;DQ927140;DQ927141;DQ927143;DQ927144;DQ927145;DQ927146;DQ927147;DQ927148;DQ927149;DQ927150;DQ927151;DQ927152;DQ927153;DQ927154;DQ927155;DQ927156;DQ927157;DQ927158;DQ927159;DQ927160;DQ927161;DQ927162;DQ927163;DQ927164;DQ927165;DQ927166;DQ927167;DQ927168;DQ927169;DQ927170;DQ927171;DQ927172;DQ927173;DQ927174;DQ927175;DQ927176;DQ927177;DQ927179;DQ927180;DQ927181;DQ927183;DQ927184;DQ927186;DQ927187;DQ927188;DQ927189;DQ927190;DQ927191;HC889206;NG_009800;NM_005259 AAB86694;AAC96327;AAH74757;AAY24188;ABI48371;ABI48373;ABI48376;ABI48378;ABI48380;ABI48381;ABI48382;ABI48384;ABI48387;ABI48388;ABI48391;ABI48392;ABI48393;ABI48395;ABI48403;ABI48404;ABI48406;ABI48410;ABI48411;ABI48413;ABI48414;ABI48415;ABI48416;ABI48417;ABI48420;ABI48423;ABI48424;ABI48425;ABI48427;ABI48428;ABI48430;ABI48433;ABI48434;ABI48436;ABI48440;ABI48443;ABI48444;ABI48445;ABI48446;ABI48447;ABI48448;ABI48449;ABI48450;ABI48451;ABI48453;ABI48454;ABI48456;ABI48457;ABI48458;ABI48459;ABI48460;ABI48461;ABI48462;ABI48463;ABI48464;ABI48466;ABI48467;ABI48468;ABI48469;ABI48470;ABI48471;ABI48472;ABI48473;ABI48474;ABI48475;ABI48476;ABI48477;ABI48478;ABI48479;ABI48480;ABI48481;ABI48482;ABI48483;ABI48484;ABI48485;ABI48486;ABI48487;ABI48488;ABI48489;ABI48490;ABI48491;ABI48492;ABI48493;ABI48494;ABI48495;ABI48496;ABI48497;ABI48498;ABI48499;ABI48500;ABI48502;ABI48503;ABI48504;ABI48506;ABI48507;ABI48509;ABI48510;ABI48511;ABI48512;ABI48513;ABI48514;ABZ92482;BAF84213;CBM42951;EAX10880;NP_005250;O14793 Hs.41565 2218776;5017777 GDF8;GDF8_672 GDF8;MSLHP GDF-8;OTTHUMP00000163498;growth differentiation factor 8;growth/differentiation factor 8 1643395;1643406 BMD6_H;BW326_H APPROVED protein-coding ENSG00000138379 4223 03474 601788;614160 REVIEWED 1350980 MT-CO3 mitochondrially encoded cytochrome c oxidase III MT 9208 9988 + 5491184;6480464 18587274 11130070;19050702;16604388;12059041;12915481;16288875 4514 P00414;Q7GIM7 AF347015 AAK17889;NP_536849 MTCO3 protein-coding 7422 516050 1602702 MSTO1 misato homolog 1 (Drosophila) 1 1 1 q22 128653145 128657846 + 153846631 153851382 + 155579961 155584758 + 6480464 17349998;11256614;16545939;16381901;15489336;14702039;12477932;11076863;9144213;8125298;16344560;21890473;21906983;21963094;21988832;23000965;23128233;22505724 55154 B4DF47;B4DHK3;Q8TE05 ABBA01016690;AF111708;AF272833;AK001366;AK056128;AK092950;AK222863;AK290610;AK295146;AK297140;AK309573;AL353807;AMYH01001432;AY334564;BC002535;BC070067;BI911005;BX537684;CH471121;CR749791;CR936872;DA807092;NM_001256532;NM_001256533;NM_018116;NR_046292;NR_046293;NR_046294;NR_046295 AAF81794;AAH02535;AAM12424;AAP94730;ACE86865;ACE87553;BAA91651;BAD96583;BAF83299;BAG58165;BAG59641;CAD97810;CAH18652;CAI59784;CAL37881;EAW53038;EAW53039;EAW53040;EAW53041;EAW53042;NP_001243461;NP_001243462;NP_060586;Q9BUK6 Hs.656547 1669363;1672034;1686522;1851929;2132041;2168071 Cda1fe10;G34868;RH12479;RH16489;SHGC-34058;WI-16155 DKFZp686B1757;DKFZp686I01261;FLJ10504;LST005;MST;RP11-29H23.3 OTTHUMP00000015899;OTTHUMP00000015900;protein misato homolog 1 protein-coding ENSG00000125459 29678 16904 VALIDATED 1344890 MT-CYB mitochondrially encoded cytochrome b MT 14748 15882 + 2298953;2298962;2298976;2298954;2298955;2298956;2298979;2298978;2298967;2298972;2298983;1578536;6480464 18245469;7588317;3779466;11507041;18481000;15698621;6215275;6128308;7692737;2836123;5954822;15126286 11130070;18796602;18709563;19050702;18481423;17015183;12391595;12686403;14735157;12031626;16008558 4519 Q0ZFD6;Q9B2X7 AF347015 AAK17895;NP_536855 MTCYB protein-coding 7427 516020 1344944 MT-L2 mitochondrially encoded tRNA leucine 2 (CUN) MT 12266 12336 + 15931342;17886251;18603265;18709563;19050702;19199242;19920115;20064630;20111055;20538375;22094595 4568 MTTL2 APPROVED trna 7491 590055 1604356 MST4 serine/threonine protein kinase MST4 The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] X X q26.2 130984926 131037652 + 131157245 131209971 + 6480464 22863883;11641781;11741893;19386264;17360971;16344560;15772651;15489334;15037601;14702039;12810671;12477932;11316611;11306563;1164178;18782753;15688006;22750858;21832049;19156129;20360068;19953087;21139048;21693764;21890473;21906983;19322201;22505724 51765 Q9NWX4;Q9P289 AB040057;ABBA01042190;ABBA01042191;ABBA01042192;ABBA01042193;ABBA01042194;AF231012;AF344882;AF344883;AK000556;AK027589;AK074837;AK075107;AK075150;AK303583;AK314356;AK316137;AL109749;AMYH01022984;AMYH01022985;BC013856;BC017213;BC070056;BC098315;BC099737;BC099843;BC103503;BT020099;CH471107;CQ783144;DA760264;NG_029562;NM_001042452;NM_001042453;NM_016542 AAH98315;AAH99843;AAI03504;AAK29620;AAK29621;AAK38484;AAV38902;ACE87792;ACT64455;BAA91251;BAA92785;BAB55215;BAC11236;BAC11406;BAC11435;BAG36989;BAG64601;BAH14508;CAF86351;EAX11786;EAX11787;NP_001035917;NP_001035918;NP_057626;Q9P289 Hs.444247 1694066;1694124;1715407;1855573;2148530;2160656;5106305 AL035147;AL035152;RH120536;RH16585;RH65695;WI-11835;WI-16556 MASK MST-4;Mst3 and SOK1-related kinase;OTTHUMP00000024034;OTTHUMP00000215131;OTTHUMP00000215132;OTTHUMP00000215133;OTTHUMP00000215134;STE20-like kinase MST4;mammalian Ste20-like protein kinase 4;mammalian sterile 20-like 4;serine/threonine protein kinase MASK;serine/threonine-protein kinase MASK;serine/threonine-protein kinase MST4 APPROVED protein-coding ENSG00000134602 06663 300547 REVIEWED 735997 MSX2 msh homeobox 2 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008] 5 5 q35.2 174084181 174090508 + 174151575 174157902 + 1600491;1600492;1580863;5132616;5132608;6480464;7240710 8968743;10742103;18270471;16451220 12145306;9073066;18029348;19453261;19407244;19240061;18786927;18349132;18299954;18187185;18056036;17693062;16642368;16540516;16467978;16425399;16327884;15489334;15060165;14571277;12925529;12750290;12477932;12407713;12145310;12145307;21471203;11959851;11683913;11084035;10831122;10767351;10451362;9522127;9373945;9265625;9256341;9111364;8786091;8668339;8106171;8101453;7897272;7726844;7687426;11763998;14679154;19147956;19590514;19835636;20004646;20620318;20572854;20634891;20672350;20506112;20211142;20538960;20107842;20301307;20682066;21362336;21498730;22633971;21730974;21512281;21499300;23275563;21465479;21906983;22332551;22717651;22730815 4488 D6RIS4;P35548 ABBA01044006;AC117531;AL552909;AMYH01015833;BC015509;BT009814;CH471062;CS406127;D14970;D26145;D31771;D89377;L22498;L22499;NG_008124;NM_002449;S75308;S75361;W38629;X69295 AAB33867;AAB42178;AAD14169;AAH15509;AAP88816;ABM82526;ABM85721;BAA03611;BAA06549;BAA13949;CAA49156;CAL40519;EAW61381;EAW61382;NP_002440;P35548 Hs.89404 1724917;1743113;1792830;1796366;2176419;5024667;5121465 GDB:266598;MSX2_1676;PMC164857P2;RH119225;RH79930;SHGC-11995;STS-X69295 CRS2;FPP;HOX8;MSH;PFM;PFM1 OTTHUMP00000161115;homeobox protein Hox-8;homeobox protein MSX-2;msh homeo box 2;msh homeo box homolog 2 (drosophila);msh homeobox homolog 2 APPROVED protein-coding ENSG00000120149 7392 00421 123101;168500;168550;604757 REVIEWED 1343728 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 MT 10060 10405 + 2302314;5491206;5507824;5687693;5687694;5687691;5687692;5508703;6480464 7763274;15975594;14705112;20480544;20438613;21484267;21291942;19458970 11130070;14604458;18082471;18709563;17701054;15931342;19140314;19077432;19050702;18679013;18518927;18262047;17717444;17620498;17429907;17081685;17066297;16140977;15827561;15211636;11607774;17152068;17413873;16023078;14764913 4537 P03897;Q7GXZ5;Q9T9Y2 AF347015 AAK17890;NP_536850 MTND3 protein-coding 7458 516002 731562 MSX1 msh homeobox 1 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008] 4 4 p16.2 4912293 4916564 + 4861392 4865663 + 1600484;1580863;5132609;5132608;5132606;6480464;7240710 8696335;12807959;16451220;18222913 11332647;19475667;19453261;18932005;18705505;18698632;18374898;18177186;18070437;17693062;17559452;17557248;17326252;16932841;16868654;16678795;16651263;16600910;16344560;16327884;15705871;15489334;15381719;15264286;15029481;12974677;12733956;12652527;12651933;12490878;12477932;12097313;11754469;11390985;11384957;11369996;11115394;10862767;10742093;10529415;10215616;9697309;9369446;9111364;8700832;2565810;1973146;1969845;1685479;1284527;21972896;22297032;21177256;20620318;20060342;16002402;18379900;19346736;19389651;19776500;19816326;19922584;20004191;20087401;20450679;20544801;20572854;20634891;20635363;20638926;20672350;20506112;20211142;20538960;20660504;22813217;18788550;20942943;21111400;22455953;21366807;21448236;21387540;21626677;21689018;21717107;21906983;21988832;22591773;21866112;20602873 4487 F8W1P0;P28360 ABBA01008253;AC092437;AF426432;AK290636;AMYH01013904;AU117561;BC021285;BC067353;BU624994;CH471131;DB356637;M76731;M76732;M97676;NG_008121;NM_002448 AAA52683;AAA58665;AAH21285;AAH67353;AAL17870;BAF83325;EAW82420;NP_002439;P28360 Hs.424414 1656923;1686847;1725673;2135085 D4S3135;G33875;G62104;SHGC4-464 ECTD3;HOX7;HYD1;STHAG1 OTTHUMP00000115387;homeo box, msh-like 1;homeobox 7;homeobox protein Hox-7;homeobox protein MSX-1;msh homeo box 1;msh homeobox 1-like protein;msh homeobox homolog 1 APPROVED protein-coding ENSG00000163132 7391 00866 106600;142983;189500;608874 REVIEWED 1347448 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 MT 12338 14149 + 1581060;2302316;5507826;5491184;5507825;5491171;5491173;5491202;5491183;5491185;5491172;5491186;6480464 16240359;2507335;1732158;18587274;10589546;21482521;21850008;16816025;19022198;18495510;21131053;17535832 11130070;19054921;18709563;18396045;17898419;18270557;18332249;15931342;17400793;17106447;14730434;19050702;19026397;18546119;16331560;15975594;14639589;12772452;17940288;17614984;17317336;17702497;15596151;17341490;14520659;14557590;15946665;14759509;12031626 4540 E7CM12;P03915;Q7GXZ2 AF347015 AAK17893;NP_536853 MTND5 protein-coding 7461 516005 1344922 MT-ATP8 mitochondrially encoded ATP synthase 8 MT MT 8367 8573 + 8366 8572 + 2302294;5490296;5490263;5490294;5490297;6480464 15254717;21167184;17619138;20450733;19759059 21890473;19066432;11607774;19758471;20936779;12110673 4509 P03928;Q85BD0;Q9B1A3 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ATPase8;MTATP8 ATP synthase F0 subunit 8 APPROVED protein-coding 7415 516070 PROVISIONAL 1350343 MT-RNR1 mitochondrially encoded 12S RNA MT 648 1601 + 6480464 11592049;11857751;11870684;12031626;12394346;12530196;12655418;12772452;12820379;12882732;12955586;12970877;14755216;15309320;15722487;15805873;15841390;15917167;15996314;16060290;16331560;16406239;16414144;16470309;16650816;16955413;17357124;17527057;17650818;17698299;17704703;17949297;17955603;18325329;18409190;18851951;19338775;19376484;19536740;19705751;19718752;19744334;19818876;19835846;19920115;19945968;19953480;20100600;20353758;20553101;20637512;20662562;20668687;20669656;20669660;20722495;20812880;20931531;20956747;21055240;21114417;21205314;22000150 4549 MTRNR1 rrna 7470 561000 1347305 MT-RNR2 mitochondrially encoded 16S RNA MT 1671 3229 + 11371646;15622243;15721287;15931342;16401312;16639504;16884381;17407074;17761147;18796524;19050702;19147801;19920115;20128730 4550 Q8IVG9 MTRNR2 rrna 7471 561010 1346234 MT-TA mitochondrially encoded tRNA alanine MT 5587 5655 - 16358336;16446307;19758471 4553 MTTA trna 7475 590000 1350292 MT-TC mitochondrially encoded tRNA cysteine MT 5761 5826 - 19758471 4511 MTTC trna 7477 590020 1353650 MT-TD mitochondrially encoded tRNA aspartic acid MT 7518 7585 + 19050702;19535463 4555 MTTD trna 7478 590015 1605433 MT-CO2 mitochondrially encoded cytochrome c oxidase II MT MT 7587 8270 + 7586 8269 + 2300410;2302298;6480464 14563825;11686499 20117988;20401641;20645029;20960565;21092633;21139048;21301321;21417982;21424030;20354817;20186120;22145905;21625016;21734188;21782872;21809666;21813027;21840784;21849808;21854221;21857970;21858104;21890473;21907277;21957142;21984126;22234093;19295170;19133256;18409190;18509181;18224252;18294142;18261751;18314621;15931342;12732844;19066432;19050702;17619138;15316498;15308583;11849212;17916073;17616393;17727817;17578348;15965049;14607829;12031622;16288875;12115729;17353931;20934379;20034753;20936779;10194136;15282306;19336478;19758471;19771519;19840943;20471030;16826196;21069476;22170686;22241583;22487732;22588264;22748678;22870593;2550900 4513 P00403;Q85KW8 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COII;MTCO2 cytochrome c oxidase subunit II APPROVED protein-coding 7421 516040 PROVISIONAL 1343599 MT-TE mitochondrially encoded tRNA glutamic acid MT 14674 14742 - 15286228;16331560;16414144;17161635;20045353 4556 MTTE trna 7479 590025 1346568 MT-TF mitochondrially encoded tRNA phenylalanine MT 577 647 + 14659412;19758471;20142618 4558 trna 7481 590070 1350503 MT-TH mitochondrially encoded tRNA histidine MT 12138 12206 + 19758471 4564 MTTH trna 7487 590040 1346891 MT-TG mitochondrially encoded tRNA glycine MT 9991 10058 + 12138308;16784756;19050702;19376484;19758471 4563 MTTG trna 7486 590035 1349540 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 MT MT 3308 4264 + 3307 4262 + 2311592;2300401;2300410;2300400;2311583;2311597;5490247;5490230;5508187;5490261;5490287;5148009;5508689;5508709;5508685;5508712;5508706;5490206;5490236;5490286;5148017;5490251;5490235;5490252;5490238;5148018;6480464 15265369;16060290;14563825;18194667;18679013;16397907;9309689;17684475;20454697;15533721;15075441;20301352;19324017;8976705;11479733;2018041;16784756;1674640;17454741;10581412;19487983;18807169;15466014;18566918;15987486;11022854 21625124;21852384;22079202;21139048;19276764;19199265;18590963;18513491;18502698;18504678;18239645;18709563;18082471;14580860;19199242;19066432;19050702;18701018;17717444;17619138;17429906;17200023;17045122;17035175;16884381;16759180;16604388;16414144;15975594;15952130;15860916;15108120;14680844;14671420;12670626;12618962;12133550;12100083;15505787;12111463;17434142;17562939;14759509;15038995;16137960;12756609;16828917;6402020;15110773;15696471;21329181;11418099;19527690;19555656;19758471;20137661;20176558;20197120;20211276;20643099;12611891;12762840;17209039;22241583;22517755;3921850 4535 P03886;Q85KV6 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MTND1 NADH dehydrogenase subunit 1;NADH dehydrogenase, subunit 1 (complex I) APPROVED protein-coding 7455 516000 PROVISIONAL 1344906 MT-TI mitochondrially encoded tRNA isoleucine MT 4263 4331 + 15498972;16734181;17965958;18043288;21292040;21454794;21982779 4565 MTTI trna 7488 590045 1349819 MT-TK mitochondrially encoded tRNA lysine MT 8295 8364 + 2112427;2124116;14748908;16645216;16810691;17293137;17300808;17410322;17619138;18636170;19066432;19253012;19266142;19278689;19758471;20610441;22227389;22681518 4566 MTTK trna 7489 590060 1353707 MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) MT 3230 3304 + 1580746 7906985 11145497;11587074;11733107;12100083;12133550;12150714;12151350;12207935;12453978;12581800;12590018;12663619;12772452;12906157;14571278;14648149;14680844;15079803;15126296;15181978;15223991;15351082;15477592;15660201;15782498;16331560;16414144;16645209;16645216;16884381;17035175;17130166;17130528;17172609;17198195;17300808;17336924;17357124;17619138;17684616;17823937;18279408;18456717;18462486;18636170;18674747;18701018;18753147;18955007;19066432;19344718;19350514;19382419;19470628;19722047;19758471;19778529;20064630;20111055;20610441;21453644 4567 MTTL1 trna 7490 590050 1350636 MT-TM mitochondrially encoded tRNA methionine MT 4402 4469 + 15872185;18701880;18927116;19546379;19758471;21168417;21694735 4569 MTTM trna 7492 590065 1343329 MT-TN mitochondrially encoded tRNA asparagine MT 5657 5729 - 19050702;19758471 4570 MTTN trna 7493 590010 1347007 MT-TP mitochondrially encoded tRNA proline MT 15956 16023 - 19077432;19758471 4571 MTTP trna 7494 590075 1351977 MT-TQ mitochondrially encoded tRNA glutamine MT 4329 4400 - 16759180;17174475;18701880;19050702;19758471 4572 MTTQ trna 7495 590030 1343129 MT-TR mitochondrially encoded tRNA arginine MT 10405 10469 + 11807892;15286228;19050702;19758471 4573 MTTR trna 7496 590005 1347226 MT-TS1 mitochondrially encoded tRNA serine 1 (UCN) MT 7446 7514 - 12820379;15210164;15482956;16406239;16470309;17659260;17894844;18028453;18636170;18790089;18988928;19027966;19371214;19527772;19558834;19705751;19744334;19758471;19920115;20064630;20668687;20722495;20812880 4574 MTTS1 trna 7497 590080 1344420 MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) MT 12207 12265 + 12045211;19758471 4575 MTTS2 trna 7498 590085 1351359 MT-TT mitochondrially encoded tRNA threonine MT 15888 15953 + 14680844;19050702;21983721 4576 MTTT trna 7499 590090 1354011 MT-TW mitochondrially encoded tRNA tryptophan MT 5512 5579 + 19349200;19758471 4578 MTTW trna 7501 590095 1348937 MT-TY mitochondrially encoded tRNA tyrosine MT 5826 5891 - 19758471 4579 MTTY trna 7502 590100 1350675 MT-TV mitochondrially encoded tRNA valine MT 1602 1670 + 15320572;18400783;19758471 4577 MTTV trna 7500 590105 1345275 MT1CP metallothionein 1C, pseudogene 16 16 16 q12.2 41179053 41180877 + 55239002 55241026 + 56681601 56683425 + 6327055;6089206;3785191;2286373 441771 ABBA01025249;AC026461;AMYH01007690;NG_005880 5113563 RH91401 APPROVED pseudo 7395 INFERRED 1344993 MT-ND4 mitochondrially encoded NADH dehydrogenase 4 MT MT 10761 12138 + 10760 12137 + 1581057;1581058;1581059;5507829;5508187;5508711;5508704;5508705;5507832;5508713;5491183;6480464 3201231;16364244;12436196;18771762;20454697;14623372;19434233;16538224;10737123;10447460;19022198 21742061;21826063;21398275;21850008;19394449;19167085;18513491;17517394;15840367;19247386;19199242;19050702;17160945;17069814;17045122;16604388;15975594;15952130;15696471;14671420;11843871;17723226;17509949;17382898;16137960;17300996;20625049;20627642;20837795;20936779;14667819;19758471;20728388;20809775;12611891;22523243;3921850 4538 P03905;Q85L09 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MTND4 NADH dehydrogenase subunit 4;NADH dehydrogenase, subunit 4 (complex I) APPROVED protein-coding 7459 516003 PROVISIONAL 1343025 MT-COI mitochondrially encoded cytochrome c oxidase I MT MT 5905 7446 + 5904 7445 + 2302296;2302301;6480464 17148469;2548155 18624398;21139048;21301321;21621438;22252130;22356826;17559347;16740593;17341490;16671096;12140182;14759509;15036329;14607829;19267350;18705313;18204294;18251004;17357124;15931342;19147801;19050702;15308583;11849212;11345519;21389643;16002321;18718066;19570036;19758471;18484665;20382059;20936779;12762840 4512 P00395;Q7GXY8 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8026;CAJ98039;CAJ98052;CAJ98065;CAJ98169;CAJ98182;CAJ98195;CAJ98208;CAJ98221;CAJ98234;CAJ98247;CAJ98260;CAJ98273;CAJ98286;CAJ98299;CAJ98312;CAJ98325;CAJ98338;CAJ98351;CAJ98364;CAJ98377;CAJ98390;CAJ98403;CAJ98416;CAJ98429;CAJ98442;CAK19118;CAK19131;CAK19144;CAK19157;CAK19170;CAK19183;CAK19196;CAK19209;CAK19222;CAK19235;CAK19248;CAK19261;CAK19274;CAK19287;CAK19300;CBI69619;CCC82746;CCC82811;CCC82824;ODHU1;P00395;Q7GXY8;YP_003024028 COI;MTCO1 cytochrome c oxidase subunit I APPROVED protein-coding 7419 516030 PROVISIONAL 1346946 MT-ND4L mitochondrially encoded NADH 4L MT MT 10471 10767 + 10470 10766 + 5686343;5686341;5686339 7603516;11935318;19394449 19050702;17123117;19758471;3921850 4539 P03901;Q7GXZ4 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CC82830;DNHUNL;P03901;Q7GXZ4;YP_003024034 MTND4L NADH dehydrogenase subunit 4L;NADH dehydrogenase, subunit 4L (complex I);mitochondrially encoded nadh dehydrogenase 4l APPROVED protein-coding 7460 516004 PROVISIONAL 1350157 MT-ND2 mitochondrially encoded NADH dehydrogenase 2 MT MT 4471 5512 + 4470 5511 + 1581054;1581055;1581056;2302313;2302294;5507832;5507833;5490259;5507834;5508187;6480464 15262184;16266403;10449650;8723226;15254717;10737123;1352971;18708297;1370613;20454697 21139048;21702983;15888325;15680405;15211636;14688809;12520145;12086702;12039661;11735027;11573146;16996290;12111463;15069201;15975594;17684475;18031868;16784756;15931342;18082471;17636359;17510502;17277043;16897192;15068427;14604458;15680495;12782420;19077432;19050702;18684894;18679013;18546119;18514404;18461138;18197537;17717444;17541740;16763358;16520888;16271520;19667492;19758471;12611891;22505229;3921850 4536 P03891;Q7GXY9 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620;AFN42633;AFN42646;AFN85602;AFN85615;AFN85628;AFN85641;AFN85654;AFN86826;AFN86839;AFN86852;AFN86891;AFN86904;AFN86917;AFN86930;AFN86943;AFN86956;AFN86969;AFN86982;AFN86995;AFN87008;AFN87021;AFN87034;AFN87047;AFN87073;AFN87086;AFN87099;AFN87112;AFN87125;AFN87138;AFN87151;AFN87164;AFN87177;AFN87190;AFN87203;AFN87216;AFN87229;AFN87255;AFN87268;AFN87281;AFN87294;AFN87307;AFN87320;AFN87333;AFN87346;AFN87359;AFN87372;AFN87385;AFN87398;AFN87411;AFN87424;AFN87437;AFN87450;AFN87463;AFN87476;AFN87515;AFN87528;AFN87541;AFN87632;AFN87645;AFO37706;AFO70015;AFO70028;AFO70041;AFP24902;AFP24915;AFP24928;AFP91058;AFP91071;AFP91110;AFP91123;AFP91162;AFQ04850;AFQ04863;AFQ04876;AFQ04889;AFQ04902;AFQ04928;AFQ04941;AFQ04980;AFQ04993;AFQ05006;AFQ05019;AFQ05097;AFQ05110;AFQ05136;AFQ05175;AFQ05188;AFQ05201;AFQ05214;AFQ05266;AFQ05279;AFQ05292;AFQ05305;AFQ05331;AFQ05383;AFQ05396;AFQ05422;AFQ05435;AFQ05448;AFQ05487;AFQ05500;AFQ05526;AFQ05552;AFQ05565;AFQ05578;AFQ05591;AFQ05630;AFQ05643;AFQ05656;AFQ05669;AFQ05721;AFQ05734;AFQ05786;AFQ05812;AFQ05838;AFQ05877;AFQ05890;AFQ05942;AFQ05955;AFQ05968;AFQ05994;AFQ06007;AFQ06033;AFQ06072;AFQ06085;AFQ06098;AFQ06111;AFQ06137;AFQ06150;AFQ06163;AFQ06176;AFQ06189;AFQ06202;AFQ06215;AFQ06228;AFQ06241;AFQ06267;AFQ06280;AFQ06345;AFQ06358;AFQ06436;AFQ06449;AFQ06462;AFQ06488;AFQ06501;AFQ06514;AFQ06527;AFQ06540;AFQ06553;AFQ06579;AFQ06605;AFQ06618;AFQ06631;AFQ06644;AFQ06657;AFQ06670;AFQ06683;AFQ06709;AFQ06735;AFQ06748;AFQ06774;AFQ06826;AFQ06852;AFQ06891;AFQ06904;AFQ06917;AFQ06930;AFQ06943;AFQ06956;AFQ06982;AFQ06995;AFQ07614;AFQ07627;AFQ07640;AFQ07653;AFQ07666;AFQ07679;AFQ07692;AFQ07705;AFQ07718;AFQ07731;AFQ07744;AFQ07757;AFQ92118;AFQ92131;AFQ92144;AFQ93859;AFQ93872;AP_000640;BAE07221;BAE07325;BAE07377;BAE07403;BAE07442;BAE07481;BAE07533;BAE07546;BAE07611;BAE07624;BAE07637;BAE07676;BAE07728;BAE07819;BAE07858;BAE07949;BAE08027;BAE08092;BAE08105;BAE08183;BAE08209;BAE08235;BAE08248;BAE08339;BAE08378;BAE08482;BAE08495;BAE08547;BAE08599;BAE08755;BAE08794;BAE08807;BAE08833;BAE08872;BAE08937;BAE08976;BAE08989;BAE09015;BAE09093;BAE09106;BAE09184;BAE09210;BAE09223;BAE09236;BAE09249;BAE09262;BAE09366;BAE09379;BAE09431;BAE09444;BAE09483;BAE09509;BAE09522;BAE09574;BAE09639;BAE09691;BAE09717;BAE09730;BAE09743;BAE09834;BAE09847;BAE09912;BAE10016;BAE10029;BAE10042;BAE10094;BAE10120;BAE10146;BAE10159;BAE10250;BAE10263;BAE10328;BAE10367;BAE10380;BAE10419;BAE10484;BAE10523;BAE10575;BAE10588;BAE10601;BAE10640;BAE10653;BAE10705;BAE10718;BAE10757;BAE10770;BAE10861;BAE10889;BAE10928;BAE11006;BAE11084;BAE11110;BAE11136;BAE11162;BAE11175;BAE11188;BAE11214;BAE11240;BAE11305;BAE11344;BAE11357;BAE11526;BAE11578;BAE11591;BAE11656;BAE11682;BAE11708;BAE11721;BAE11747;BAE11773;BAE11786;BAE11799;BAE11825;BAE11838;BAE11851;BAE11877;BAE11890;BAE11916;BAE11994;BAE12020;BAE12046;BAE12085;BAE12176;BAE12189;BAE12241;BAE12293;BAE12306;BAE12332;BAE12345;BAE12436;BAE12475;BAE12488;BAE12540;BAE12566;BAE12618;BAE12631;BAE12644;BAE12657;BAE12683;BAE12709;BAE12735;BAE12800;BAE12813;BAE12852;BAE12917;BAE12930;BAE12943;BAE12969;BAE12982;BAE13021;BAE13073;BAE13099;BAE13151;BAE13229;BAE13268;BAE13333;BAE13359;BAE13385;BAE13411;BAE13424;BAE13437;BAE13450;BAE13489;BAE13515;BAE13528;BAE13541;BAE13554;BAE13567;BAE13580;BAE13606;BAE13632;BAE13749;BAE13762;BAE13814;BAE13840;BAE13918;BAE14048;BAE14061;BAE14113;BAE14139;BAE14165;BAE14178;BAE14256;BAE14295;BAE14360;BAE14373;BAE14399;BAE14412;BAE14425;BAE14477;BAE14490;BAE14659;BAE14685;BAE14698;BAE14737;BAE14763;BAE14789;BAE14802;BAE14867;BAE14919;BAE14932;BAE14945;BAE14984;BAE14997;BAE15010;BAE15036;BAE15062;BAE15296;BAE15335;BAE15361;BAE15387;BAE15452;BAE15543;BAE15621;BAE15660;BAE15673;BAE15686;BAE15699;BAE15738;BAE15764;BAE15816;BAE15842;BAE15855;BAE15907;BAE15946;BAG14433;BAG14485;BAG14511;BAG14524;BAG14537;BAG14563;BAG14628;BAG14641;BAG14680;BAG14719;BAG14758;BAG14797;BAG14849;BAG14953;BAG14979;BAG15109;BAG15122;BAG15135;BAG15187;BAG15226;BAG15291;BAG15330;BAG15343;BAG15356;BAG15369;BAG15395;BAG15421;BAG15512;BAG15525;BAG15551;BAG15616;BAG15694;BAG15720;BAG15798;BAG15824;BAG38721;BAG38760;BAG38786;BAG38799;BAG38812;BAG38903;BAG38916;BAG38955;BAG38968;BAG39020;BAG39033;BAG39111;BAG39124;BAG39215;BAG39254;BAG39319;BAG39371;BAG39384;BAG39410;BAG39436;BAH10899;BAH10912;BAH10925;BAH10951;BAH11042;BAH11068;BAH15386;BAH15594;BAH15711;BAH15737;BAH15802;BAH15815;BAH15867;BAH15893;BAH15958;BAH15984;BAH16010;BAH16036;BAH16140;BAH16179;BAH16335;BAH16348;BAH16374;BAH16504;BAH16530;BAH16543;BAK23970;BAK23983;BAM25071;BAM25084;BAM25097;BAM25110;BAM25123;BAM25136;BAM25149;BAM25162;BAM25175;BAM25188;BAM25201;BAM25227;BAM25240;BAM25266;BAM25279;BAM25305;BAM25318;BAM25331;BAM25344;BAM25357;BAM25370;BAM25396;BAM25409;BAM25422;BAM25435;BAM25461;BAM25474;BAM25487;BAM25500;BAM25513;BAM25526;BAM25565;BAM25578;BAM25591;BAM25604;BAM25617;BAM25630;BAM25643;BAM25682;BAM25708;BAM25721;BAM25734;BAM25747;BAM25760;BAM25786;BAM25799;BAM25812;BAM25825;BAM25864;BAM25877;BAM25903;BAM25916;BAM25929;BAM25942;BAM25955;BAM25968;BAM25981;BAM25994;BAM26007;BAM26033;BAM26046;BAM26072;BAM26085;BAM26098;BAM26124;BAM26137;BAM26150;BAM26163;BAM26176;CAA24027;CAH59645;CAH59652;CAH59659;CAH59666;CAH59673;CAH59680;CAH59687;CAH59694;CAJ97453;CAJ97466;CAJ97479;CAJ97492;CAJ97544;CAJ97557;CAJ97570;CAJ97583;CAJ97596;CAJ97609;CAJ97622;CAJ97635;CAJ97648;CAJ97661;CAJ97674;CAJ97687;CAJ97700;CAJ97713;CAJ97739;CAJ97752;CAJ97765;CAJ97778;CAJ97791;CAJ97804;CAJ97843;CAJ97856;CAJ97869;CAJ97895;CAJ97908;CAJ97921;CAJ97934;CAJ97947;CAJ97960;CAJ97973;CAJ97986;CAJ97999;CAJ98012;CAJ98025;CAJ98038;CAJ98051;CAJ98064;CAJ98077;CAJ98090;CAJ98103;CAJ98116;CAJ98129;CAJ98142;CAJ98155;CAJ98168;CAJ98181;CAJ98194;CAJ98207;CAJ98220;CAJ98233;CAJ98246;CAJ98259;CAJ98272;CAJ98285;CAJ98298;CAJ98311;CAJ98324;CAJ98337;CAJ98363;CAJ98376;CAJ98389;CAJ98402;CAJ98428;CAJ98441;CAK19130;CAK19143;CAK19156;CAK19169;CAK19182;CAK19195;CAK19208;CAK19221;CAK19234;CAK19247;CAK19260;CAK19286;CAK19299;CBI69618;DNHUN2;P03891;Q7GXY9;YP_003024027 MTND2 MTND2;NADH dehydrogenase subunit 2 APPROVED protein-coding 7456 516001 PROVISIONAL 1348759 MT-ND6 mitochondrially encoded NADH dehydrogenase 6 MT MT 14150 14674 - 14149 14673 - 1581061;6480464;5491186;6482231 15922297;17535832;20019223 19394449;18440284;18674747;19247386;19050702;17045122;16604388;15952130;15470367;14671420;17452034;12112086;16337195;20809775;20691156;19732751;19758471;20052369;18485875 4541 P03923;Q7GXZ1 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8;BAE10871;BAE10886;BAE10899;BAE10912;BAE10925;BAE10951;BAE10964;BAE10977;BAE10990;BAE11003;BAE11016;BAE11029;BAE11042;BAE11055;BAE11068;BAE11081;BAE11094;BAE11107;BAE11120;BAE11133;BAE11146;BAE11159;BAE11172;BAE11185;BAE11198;BAE11211;BAE11224;BAE11237;BAE11250;BAE11263;BAE11276;BAE11289;BAE11302;BAE11315;BAE11328;BAE11341;BAE11354;BAE11367;BAE11380;BAE11393;BAE11406;BAE11419;BAE11432;BAE11445;BAE11471;BAE11484;BAE11497;BAE11510;BAE11536;BAE11549;BAE11562;BAE11575;BAE11588;BAE11601;BAE11614;BAE11627;BAE11640;BAE11653;BAE11679;BAE11692;BAE11705;BAE11718;BAE11731;BAE11744;BAE11757;BAE11770;BAE11796;BAE11809;BAE11822;BAE11835;BAE11848;BAE11861;BAE11874;BAE11887;BAE11900;BAE11913;BAE11926;BAE11939;BAE11952;BAE11965;BAE11978;BAE11991;BAE12004;BAE12017;BAE12030;BAE12043;BAE12056;BAE12069;BAE12082;BAE12095;BAE12108;BAE12121;BAE12134;BAE12147;BAE12160;BAE12173;BAE12186;BAE12199;BAE12212;BAE12225;BAE12238;BAE12251;BAE12264;BAE12277;BAE12290;BAE12303;BAE12316;BAE12329;BAE12342;BAE12355;BAE12368;BAE12381;BAE12394;BAE12407;BAE12420;BAE12433;BAE12446;BAE12459;BAE12472;BAE12485;BAE12498;BAE12511;BAE12524;BAE12537;BAE12550;BAE12563;BAE12576;BAE12589;BAE12602;BAE12615;BAE12641;BAE12654;BAE12667;BAE12680;BAE12693;BAE12706;BAE12719;BAE12732;BAE12745;BAE12758;BAE12771;BAE12784;BAE12797;BAE12810;BAE12823;BAE12836;BAE12849;BAE12862;BAE12875;BAE12888;BAE12901;BAE12914;BAE12927;BAE12940;BAE12953;BAE12966;BAE12979;BAE12992;BAE13005;BAE13018;BAE13031;BAE13044;BAE13057;BAE13070;BAE13083;BAE13096;BAE13109;BAE13122;BAE13135;BAE13161;BAE13174;BAE13187;BAE13200;BAE13213;BAE13226;BAE13239;BAE13252;BAE13265;BAE13278;BAE13291;BAE13304;BAE13330;BAE13356;BAE13369;BAE13382;BAE13408;BAE13421;BAE13434;BAE13447;BAE13460;BAE13473;BAE13486;BAE13499;BAE13512;BAE13525;BAE13538;BAE13551;BAE13564;BAE13577;BAE13590;BAE13603;BAE13616;BAE13629;BAE13642;BAE13655;BAE13668;BAE13681;BAE13707;BAE13720;BAE13746;BAE13759;BAE13785;BAE13798;BAE13811;BAE13824;BAE13837;BAE13850;BAE13863;BAE13876;BAE13889;BAE13902;BAE13915;BAE13941;BAE13954;BAE13980;BAE13993;BAE14006;BAE14019;BAE14032;BAE14045;BAE14058;BAE14071;BAE14084;BAE14097;BAE14110;BAE14123;BAE14136;BAE14149;BAE14162;BAE14188;BAE14201;BAE14214;BAE14227;BAE14240;BAE14253;BAE14266;BAE14279;BAE14292;BAE14305;BAE14318;BAE14331;BAE14344;BAE14357;BAE14370;BAE14383;BAE14396;BAE14409;BAE14422;BAE14435;BAE14448;BAE14461;BAE14474;BAE14487;BAE14500;BAE14513;BAE14526;BAE14539;BAE14552;BAE14565;BAE14578;BAE14591;BAE14604;BAE14617;BAE14630;BAE14643;BAE14656;BAE14669;BAE14682;BAE14695;BAE14708;BAE14721;BAE14734;BAE14747;BAE14760;BAE14773;BAE14786;BAE14812;BAE14825;BAE14838;BAE14851;BAE14864;BAE14877;BAE14890;BAE14903;BAE14916;BAE14929;BAE14942;BAE14955;BAE14968;BAE14981;BAE14994;BAE15007;BAE15020;BAE15033;BAE15046;BAE15059;BAE15072;BAE15085;BAE15098;BAE15111;BAE15124;BAE15137;BAE15150;BAE15163;BAE15176;BAE15189;BAE15215;BAE15228;BAE15241;BAE15254;BAE15267;BAE15280;BAE15293;BAE15306;BAE15319;BAE15332;BAE15358;BAE15371;BAE15384;BAE15397;BAE15410;BAE15423;BAE15436;BAE15449;BAE15462;BAE15475;BAE15488;BAE15501;BAE15514;BAE15527;BAE15540;BAE15553;BAE15566;BAE15579;BAE15592;BAE15605;BAE15618;BAE15631;BAE15644;BAE15657;BAE15670;BAE15696;BAE15709;BAE15722;BAE15735;BAE15748;BAE15761;BAE15774;BAE15800;BAE15813;BAE15826;BAE15839;BAE15852;BAE15878;BAE15891;BAE15904;BAE15917;BAE15930;BAE15943;BAG14404;BAG14417;BAG14430;BAG14443;BAG14456;BAG14469;BAG14482;BAG14508;BAG14521;BAG14534;BAG14547;BAG14560;BAG14573;BAG14599;BAG14612;BAG14625;BAG14638;BAG14651;BAG14664;BAG14677;BAG14690;BAG14703;BAG14716;BAG14729;BAG14742;BAG14755;BAG14768;BAG14781;BAG14794;BAG14807;BAG14820;BAG14833;BAG14846;BAG14859;BAG14872;BAG14885;BAG14898;BAG14911;BAG14924;BAG14937;BAG14950;BAG14963;BAG14976;BAG14989;BAG15002;BAG15015;BAG15028;BAG15041;BAG15054;BAG15067;BAG15080;BAG15093;BAG15106;BAG15132;BAG15158;BAG15171;BAG15184;BAG15197;BAG15210;BAG15223;BAG15236;BAG15249;BAG15262;BAG15275;BAG15288;BAG15301;BAG15314;BAG15327;BAG15340;BAG15353;BAG15366;BAG15379;BAG15392;BAG15405;BAG15418;BAG15431;BAG15444;BAG15457;BAG15470;BAG15483;BAG15496;BAG15509;BAG15522;BAG15548;BAG15561;BAG15574;BAG15587;BAG15600;BAG15613;BAG15626;BAG15639;BAG15652;BAG15678;BAG15691;BAG15704;BAG15717;BAG15730;BAG15743;BAG15756;BAG15769;BAG15782;BAG15795;BAG15808;BAG15821;BAG15834;BAG15847;BAG38718;BAG38731;BAG38744;BAG38757;BAG38770;BAG38783;BAG38796;BAG38809;BAG38822;BAG38835;BAG38848;BAG38861;BAG38874;BAG38887;BAG38900;BAG38913;BAG38926;BAG38939;BAG38952;BAG38965;BAG38991;BAG39004;BAG39017;BAG39030;BAG39043;BAG39056;BAG39069;BAG39082;BAG39095;BAG39108;BAG39121;BAG39134;BAG39147;BAG39160;BAG39173;BAG39186;BAG39199;BAG39212;BAG39225;BAG39238;BAG39251;BAG39264;BAG39277;BAG39290;BAG39303;BAG39316;BAG39329;BAG39342;BAG39355;BAG39368;BAG39381;BAG39394;BAG39407;BAG39420;BAG39433;BAG39446;BAH10909;BAH10922;BAH10935;BAH10948;BAH10961;BAH10974;BAH10987;BAH11000;BAH11013;BAH11026;BAH11039;BAH11052;BAH11065;BAH11078;BAK23980;BAM25081;BAM25094;BAM25107;BAM25120;BAM25133;BAM25146;BAM25159;BAM25172;BAM25198;BAM25211;BAM25237;BAM25250;BAM25263;BAM25276;BAM25289;BAM25302;BAM25315;BAM25328;BAM25341;BAM25354;BAM25367;BAM25380;BAM25393;BAM25406;BAM25419;BAM25432;BAM25445;BAM25458;BAM25471;BAM25484;BAM25497;BAM25510;BAM25523;BAM25536;BAM25549;BAM25562;BAM25575;BAM25588;BAM25601;BAM25614;BAM25627;BAM25640;BAM25653;BAM25666;BAM25679;BAM25692;BAM25718;BAM25731;BAM25744;BAM25757;BAM25770;BAM25783;BAM25796;BAM25809;BAM25822;BAM25835;BAM25874;BAM25887;BAM25913;BAM25926;BAM25939;BAM25952;BAM25965;BAM25978;BAM25991;BAM26004;BAM26017;BAM26030;BAM26043;BAM26056;BAM26069;BAM26082;BAM26108;BAM26121;BAM26134;BAM26147;BAM26160;BAM26173;BAM26186;CAH59704;CAJ97463;CAJ97476;CAJ97489;CAJ97502;CAJ97515;CAJ97528;CAJ97541;CAJ97554;CAJ97567;CAJ97580;CAJ97593;CAJ97606;CAJ97619;CAJ97632;CAJ97645;CAJ97658;CAJ97671;CAJ97684;CAJ97697;CAJ97710;CAJ97723;CAJ97736;CAJ97749;CAJ97762;CAJ97775;CAJ97788;CAJ97801;CAJ97814;CAJ97827;CAJ97840;CAJ97853;CAJ97866;CAJ97879;CAJ97892;CAJ97905;CAJ97918;CAJ97931;CAJ97944;CAJ97957;CAJ97970;CAJ97983;CAJ97996;CAJ98009;CAJ98022;CAJ98035;CAJ98048;CAJ98061;CAJ98074;CAJ98087;CAJ98100;CAJ98113;CAJ98126;CAJ98139;CAJ98152;CAJ98165;CAJ98178;CAJ98191;CAJ98204;CAJ98217;CAJ98269;CAJ98282;CAJ98295;CAJ98308;CAJ98321;CAJ98334;CAJ98347;CAJ98360;CAJ98373;CAJ98386;CAJ98399;CAJ98412;CAJ98425;CAJ98438;CAJ98451;CAK19127;CAK19140;CAK19153;CAK19166;CAK19179;CAK19192;CAK19205;CAK19218;CAK19231;CAK19244;CAK19257;CAK19270;CAK19283;CAK19296;CAK19309;CAM98661;CAM98674;CBI69628;CCC82755;CCC82768;CCC82794;CCC82820;CCC82833;I80240;P03923;Q7GXZ1;YP_003024037 MTND6 NADH dehydrogenase subunit 6;NADH dehydrogenase, subunit 6 (complex I) APPROVED protein-coding 7462 516006 PROVISIONAL 1352993 MT1B metallothionein 1B 16 16 16 q13 41183263 41184568 + 55243312 55244617 + 56685811 56687116 + 1580863;6480464 17244347;15747776;15489334;12539042;12477932;6089206;3785191;2286373;11168427;22780124 4490 H3BR34;P07438;Q86YX0 ABBA01025249;AC026461;AF349000;AF350250;AMYH01007690;AY168638;BC069421;BC137478;BC137479;CH471092;M13484;M13485;NM_005947 AAA36331;AAH69421;AAI37479;AAI37480;AAN86984;AAO32960;AAO49186;ACE86819;ACE87505;EAW82880;NP_005938;P07438 Hs.656629 1792828;2137346;5016306;5492619;5493001 D16S3240;PMC164851P1;STS-M13485;UniSTS:481818;UniSTS:483624 MT1;MT1Q;MTP MT-1B;MT-IB;OTTHUMP00000164378;metallothionein 1Q;metallothionein-1B;metallothionein-IB protein-coding ENSG00000169688 7394 11826 156349 PROVISIONAL 1342688 MT1DP metallothionein 1D, pseudogene 16 16 16 q13 41175052 41176306 + 55235099 55236662 + 56677599 56678853 + 12477932;11329013;6327055;6089206;3856101;3785191;2286373;21906983 326343 A1L3X4 ABBA01025249;AC026461;AF348999;AMYH01007690;BC130315;BC130317;BG181336;CH471092;NR_003658;NR_027781 A1L3X4;AAO32959;EAW82877;EAW82878 Hs.679600 MTM APPROVED pseudo 7396 17610 VALIDATED 737231 MT1A metallothionein 1A 16 16 q13 55230079 55231500 + 56672578 56673999 + 1580863;6480464;6484135;6484130;6484136;6483854;2306905;6484112 10535526;16179515;8110467;16226777;16034371;19619133 19515364;19359654;18601746;18533113;18429853;18349110;18316168;18249147;18208603;17388808;17373731;17111383;17008879;16955215;16107899;16087360;15812196;15489334;14528913;12970870;12539042;12477932;12361735;11939525;11284736;11168427;10884303;10774930;10754528;10574972;10099782;9614853;9566988;7543551;7140998;6327055;6089206;4062903;3856101;2304897;2303255;19529947;19962295;20038220;20634891;20812968;21798283;22939629;16827180;21103883;22090273;23501100;23506369;22995156;23000965;23042264 4489 P04731;Q8TE66 ABBA01025249;AC026461;AF348995;AMYH01007690;AY028617;BC029475;HI573922;K01383;NM_005946 AAA59586;AAH29475;AAK26162;AAO32955;ABM83485;ABM86699;CBX47450;NP_005937;P04731 Hs.655199 5016306 D16S3240 MGC32848;MT1;MT1S;MTC MT-1A;MT-IA;metallothionein;metallothionein 1A (functional);metallothionein 1S;metallothionein-1A;metallothionein-IA protein-coding ENSG00000205362 7393 07035 156350 VALIDATED 1351881 MT1E metallothionein 1E 16 16 q13 55217086 55218525 + 56659585 56661024 + 1580863;6480464 14555400;12556398;19420986;18724390;18349110;17244347;15747776;15489334;12477932;11693492;12539042;11133866;11053642;10774930;8119276;7932184;6095291;6089206;3856101;2581970;2286373;20551211;17207965;20848733;21358552;11168427;16827180;8619255 4493 H3BU80;P04732 ABBA01025249;AC026461;AF495759;AMYH01007690;BC009699;BC062734;BC131609;CH471092;M10350;M10942;NM_175617;S68949 AAA59587;AAB30082;AAH09699;AAH62734;AAI31610;AAM15968;ADQ33219;EAW82872;EAW82873;EAW82874;NP_783316;P04732 Hs.534330 5016306 D16S3240 MT1;MTD MT-1E;MT-IE;OTTHUMP00000163971;metallothionein D;metallothionein-1E;metallothionein-IE protein-coding 7397 01126 156351 VALIDATED 1345638 MT1G metallothionein 1G 16 16 q13 55258154 55259478 - 56700653 56701977 - 1580863;6480464 12646258;12970870;19137073;18639284;15862967;15747776;15735762;15489334;12640681;12539042;12477932;8119276;6089206;3403543;3023827;2444457;2286373;20551211;20812968;19491193;19506903;19639168;20032811;11168427;16827180;18332874;7559655;22780124;19330122 4495 H3BSF1;H3BSS0;P13640 ABBA01025249;AC026461;AMYH01007690;BC005311;BC020757;BC035287;CH471092;J03910;K03473;NM_005950;S68954 AAA59873;AAB30083;AAH20757;ABM92157;ABW03278;EAW82882;EAW82883;NP_005941;P13640 Hs.433391 1669045;1682491;1852027;5016306 D16S3240;RH16366;RH75829;SHGC-35166 MGC12386;MT1;MT1K MT-1G;MT-1K;MT-IG;OTTHUMP00000164375;OTTHUMP00000164376;metallothionein 1K;metallothionein-1G;metallothionein-1K;metallothionein-IG protein-coding ENSG00000125144 7399 11827 156353 PROVISIONAL 1349010 MT1F metallothionein 1F 16 16 q13 55249356 55250713 + 56691855 56693215 + 1580863;6480464 2581970;18391951;15862967;15489334;15369632;12539042;12477932;11693492;11291768;11168427;10774930;9831543;8619255;7762008;6095291;6089206;3403543;3023827;2444457;2286373;22426038;19251948;20812968;21128001;16827180;21409206;21820154;22780124;23000965;23064051 4494 A8MWH4;H3BRY8;P04733 ABBA01025249;AC026461;AMYH01007690;BC029453;BQ939879;CH471092;CS185532;HB877768;HC935177;M10351;M10943;M13003;NM_005949 AAA36213;AAA59588;AAH29453;ABM84012;ABM87356;ABM87377;CAJ42713;CBF63211;CBU88087;EAW82881;NP_005940;P04733 Hs.513626 1792828;2126018;5016306 D16S3240;PMC164851P1;RH78925 MGC32732;MT1 MT-1F;MT-IF;metallothionein-1F;metallothionein-IF protein-coding ENSG00000198417 7398 01127 156352 VALIDATED 1346190 MT1NP metallothionein 1N, pseudogene 81837 14924 1342869 MT1P1 metallothionein 1 pseudogene 1 9 9 9 q22.32 68616442 68616840 - 97215122 97215720 - 98175399 98175797 - 493987 ABBA01043620;AL161729;AMYH01021533;NG_005527 bA435O5.3 pseudo 23681 INFERRED 1604411 MT1HL1 metallothionein 1H-like 1 This gene is a retrotransposed gene, compared to MT1H (GeneID:4496). This retrogene is transcribed. It retains a full-length CDS, and is assumed to be translated. Compared to the MT1H product, this protein product differs at three internal amino acids, two of which are at metal-binding sites. [provided by RefSeq, Mar 2013] 1 1 1 q43 210416664 210417060 - 235233975 235242240 - 237167347 237167743 - 6480464 12477932 645745 P0DM35 ABBA01033177;AF333388;AL359259;AMYH01001860;BC133030;BC133032;NM_001276687 AAK18278;NP_001263616;P0DM35 Hs.632513 1682491;2138409 RH75829;SHGC-36986 MT1P2 MT-1H-like protein;metallothionein 1H-like protein;metallothionein 1H-like protein 1 APPROVED protein-coding ENSG00000244020 31864 VALIDATED 1351340 MT1Q metallothionein 1Q 81836 14925 1352540 MT1IP metallothionein 1I, pseudogene 16 16 16 q13 41207017 41209022 + 55267150 55269154 + 56709649 56711653 + 6480464 8049263;6089206;2286373;12477932 644314 Q86YX3 ABBA01025250;AC026461;AF348997;AMYH01007690;BC144606;BC144614;BC171791;NR_003669;NR_104045;NR_104046 AAI71791;AAO32957 Hs.434199 MT1;MT1I;MTE APPROVED pseudo 7401 156355 VALIDATED 1352167 MT1S metallothionein 1S 81835 AY028617 14961 1350386 MT1JP metallothionein 1J, pseudogene 16 16 16 q13 41166689 41168450 + 55226738 55228499 + 56669651 56670998 + 1580863;6480464 12477932;8049263;2581970;2286373 4498 Q86YX6 ABBA01025249;AC026461;AF348994;AF350249;AMYH01007690;BC103839;M11399;M11400;M11401;NR_036677 AAO32954 Hs.736648 5015984 UniSTS:484175 MT1;MT1J;MT1NP;MTB metallothionein 1j APPROVED pseudo ENSG00000255986 7402 11758 156356 VALIDATED 1342574 MT1XP1 metallothionein 1X pseudogene 1 1 p36.13 16567711 16567893 - 17619138 4529;645652 ABBA01004678;AL109627;AMYH01000280;NG_030191 1684544;1693086;1699364;1701118;1707924;1769659 AL034273;RH103269;RH104187;RH80871;SHGC-64091;SHGC-82214 MTL1 APPROVED pseudo 7442 INFERRED 1349146 MT2P1 metallothionein 2 pseudogene 1 4 4 4 q13.2 66701941 66702355 + 68924636 68924821 + 69241969 69242383 + 7133118 4503 ABBA01022910;AC074378;AMYH01014255;J00272;NG_001158 1742199 GDB:193644 APPROVED pseudo 7407 INFERRED 1345185 MT1L metallothionein 1L (gene/pseudogene) 16 16 16 q13 41148835 41150192 + 55208976 55210093 + 56651373 56652730 + 1580863;6480464 16395595;15747776;12477932;9074634;8766831;8049263;2286373 4500 Q86YX2;Q93083 ABBA01025249;AC026461;AJ011772;AMYH01007690;BC070351;BG747999;NR_001447;X97261 CAA65916 Hs.647358 5125371 RH70949 MT1;MT1R;MTF metallothionein 1l pseudo ENSG00000260549 7404 156358 VALIDATED 1343880 MT1H metallothionein 1H 16 16 q13 55261227 55262542 + 56703726 56705041 + 1580863;6480464 11093034;14668352;15747776;15489334;12970870;12539042;12477932;12081484;11053642;10774930;8619255;8119276;8049263;2286373;1425708;12646258;20551211;11168427;16827180;22780124 4496 H3BTC4;P80294 ABBA01025249;AC026461;AMYH01007690;BC008408;BC059780;BC146930;BC146934;BT007171;CH471092;NM_005951;S68948;X64177;X64834 AAB30081;AAH08408;AAH59780;AAI46931;AAI46935;AAP35835;ABM84013;ABM87358;CAA45516;CAA46046;EAW82884;NP_005942;P80294 Hs.438462 2138409;5016306 D16S3240;SHGC-36986 MGC70702;MT-0;MT-1H;MT-IH;MT1 MT-0;MT-1H;MT-IH;OTTHUMP00000164384;metallothionein-0;metallothionein-1H;metallothionein-IH protein-coding ENSG00000205358 7400 01128 156354 VALIDATED 1344281 MT7SDNA mitochondrially encoded 7S DNA 4505 7409 1605723 MT1M metallothionein 1M This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011] 16 16 16 q13 41163986 41165350 + 55224035 55225399 + 56666534 56667898 + 6480464 17244347;15489334;12539042;12477932;10774930;10575295;8049263;2286373;22971577 4499 H3BUC6;Q8N339 ABBA01025249;AC026461;AF136177;AF348671;AF479613;AMYH01007690;BC028280;BC103841;BM918307;CH471092;NG_030326;NM_176870 AAH28280;AAI03842;AAL83902;AAL85413;AAP97267;ABM85681;EAW82875;EAW82876;NP_789846;Q8N339 Hs.647370 1335721;1739455;5015984 D16S2938;D16S3071;UniSTS:484175 MGC118949;MGC40498;MT-1M;MT-IM;MT1;MT1K metallothionein 1K;metallothionein 1Y;metallothionein-1M;metallothionein-IM APPROVED protein-coding 14296 01129 156357 REVIEWED 1353097 MT1P3 metallothionein 1 pseudogene 3 20 20 20 q11.2 30554664 30554840 + 33269473 33269649 + 33805812 33805988 + 6480464 15489334;12477932;11780052;6089206;6719135 140851 ABBA01019167;AL121753;AMYH01011872;BC103840;BC133653;NG_005652 1792828;5015984 PMC164851P1;UniSTS:484175 C20orf127;MGC118948;MTL4;dJ614O4.6 chromosome 20 open reading frame 127 pseudo 16120 16639 INFERRED 730879 MT3 metallothionein 3 16 16 q13 55180768 55182501 + 56623267 56625000 + 1580863;6480619;6480534;6480540;6480475;6480620;6480495;6480628;6480494;6480486;6480529;2289373;6480625;6480464;6480623;6480485;6480520;6480627;6480516;6484112 16444595;19619132;18992145;21726645;16387743;17097207;16314047;20371971;7953645;19635467;16612977;12417341;16382788;1464312;19799968;12388585;20039155;19619133 12383939;8751715;1873033;12763630;18029348;18782281;18757100;18554677;18533104;18295594;18208603;18206644;18182399;17712581;16945328;16546755;16351731;16087360;16036436;15489334;15190073;12539042;12538345;12477932;12187490;12111700;12072966;12067712;12058024;11994011;11849386;11226237;10517878;9655243;8039715;7677777;2071148;1631128;16601975;21818286;16712791;16336778;19425569;19490120;19536566;19578815;19881214;20646067;20974010;18157556;10355541;15129022;21044950;22615124;23086305;23482768 4504 H3BPK2;H3BQX6;H3BTG5;P25713 ABBA01025247;AC026461;AMYH01007690;BC013081;BC035624;BC047694;BI752092;BI820409;BT007030;CB155600;CH471092;D13365;DQ297144;M93311;NM_005954;S72043;X89604 AAA36214;AAB31396;AAH13081;AAP35677;ABB84467;ABM82678;ABM85859;CAA61763;EAW82866;EAW82867;EAW82868;NP_005945;P25713 Hs.73133 1789308 G67938 GIF;GIFB;GRIF;ZnMT3 MT-3;MT-III;OTTHUMP00000164383;growth inhibitory factor;metallothionein 3 (growth inhibitory factor (neurotrophic));metallothionein-3;metallothionein-III protein-coding ENSG00000087250 7408 00752 139255 VALIDATED 1343695 MT4 metallothionein 4 16 16 16 q13 41096796 41100689 + 55156462 55160370 + 56598961 56602869 + 1580863;6480464 15489334;12539042;12477932;8003488;20634891;19515364;19921116 84560 P47944 ABBA01025247;AC026461;AMYH01007690;BC113442;BC113444;CH471092;NM_032935;U07807 AAA20232;AAI13443;AAI13445;ADR82778;EAW82865;NP_116324;P47944 Hs.567624 2127907 STS-U07807 MT-4;MT-IV;MTIV metallothionein-4;metallothionein-IV protein-coding ENSG00000102891 18705 12092 606206 PROVISIONAL 6481094 MTAPP1 methylthioadenosine phosphorylase pseudogene 1 3 158327422 158327988 - 100874257 ABBA01058814;AC025033;AMYH01013608;NG_032516 pseudo 42442 INFERRED 5144713 MTAPP2 methylthioadenosine phosphorylase pseudogene 2 3 3 188115910 188116741 - 189686819 189687650 - 100420621 ABBA01058336;AC016966;AMYH01013755;NG_025668;NG_031929 pseudo 42443 INFERRED 7174915 MTATP6P2 mitochondrially encoded ATP synthase 6 pseudogene 2 5 q21.1 99387621 99388301 - 100287745 AC113407;AMYH01015501;NG_027709 5094682 PMC55343P7 pseudo 44576 INFERRED 1352146 MT2A metallothionein 2A 16 16 q13 55200012 55200896 + 56642478 56643409 + 1580863;6480464;6483847;6483812;6483854;6483842;6483853;6483850;6483843;6483852;6480540;6482832;6483848;6483815;6483844;6484136;6483819;6484112;6483833;2306905;6484135 15650329;22363575;16226777;17215068;18349110;12122050;16518702;22100509;18992145;18000159;15592854;22253198;17622311;8110467;20357188;19619133;17606507;16034371;10535526 7821789;12970870;14550308;15541360;6719135;19515364;19433272;19097988;19062161;18996371;18601746;18208603;17914565;17244347;17224279;16927099;16916647;16546755;16402917;16341674;16243847;16215939;16166738;16087360;15862967;15747776;15489334;15041247;14530512;12714254;12646258;12539042;12477932;12192109;12153718;10766190;10754528;10716985;10567918;8766831;7133118;6896577;6323998;3821726;2780570;2388267;1633872;1593628;1339282;913597;16099106;19572214;19881214;20038220;20303360;16501887;20711450;19664597;19913121;20628086;20646067;20711930;21187089;20812968;22990118;22005883;22824183;23028585;23042264;11168427;21767559;20127519;21868554;21277639;19536566;23466427;21988832;23000965;23064051;22248277;22090273;21328412;23148893;23381845;23455924 4502 H3BSP9;P02795 ABBA01025248;AC026461;AMYH01007690;BC007034;BC070289;BM746626;BT007315;CH471092;D28442;DQ370420;HI574296;J00271;M15244;M26637;NM_005953;S52379;V00594;X00504;X97260 AAA59583;AAA59584;AAB24908;AAH07034;AAH70289;AAP35979;ABC79300;ACE86465;ACE87146;BAA05808;CAA23841;CAA25196;CAA65915;CBX47637;EAW82869;EAW82870;NP_005944;P02795 Hs.534330 1684718;1739457 D16S2939;RH75825 MT2 MT-2;MT-II;OTTHUMP00000164382;metallothionein-2;metallothionein-2A;metallothionein-II protein-coding 7406 08863 156360 VALIDATED 1345545 MTATT mitochondrially encoded membrane attachment site 4510 7416 1349525 MT1X metallothionein 1X 16 16 q13 55273896 55275609 + 56716382 56718108 + 1580863;6480464 9074634;16381901;15489336;15489334;14718574;12539042;12477932;11693492;11168427;11076863;10774930;10754528;10575295;9831543;8619255;8119276;8049263;2286373;20551211;19817957;19881214;20812968;16827180;19322201;21044950;22780124;21103663;22108904;23000965;23251525 4501 P80297 ABBA01025250;AC026461;AMYH01007690;BC018190;BC029916;BC032131;BC032338;BC053882;CD101947;CH471092;CS185582;NM_005952;S68956;X65607;X76717 AAB30084;AAH18190;AAH32131;AAH32338;ABM84626;ABM92155;CAA46557;CAA54136;CAJ42763;CAL37952;EAW82885;EAW82886;NP_005943;P80297 Hs.374950 1684544;2118913;5020782 RH47222;RH80871;SHGC-36987 MT-1l;MT1 MT-1X;MT-IX;OTTHUMP00000164381;metallothionein-1X;metallothionein-IX protein-coding ENSG00000187193 7405 01130 156359 VALIDATED 731516 MTA1 metastasis associated 1 This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 14 14 q32.3 104957231 105008107 + 105886186 105937062 + 729186;728998;1580863;6480464 8083195;7607577 12650603;18029348;19366061;18769059;18719363;18640824;18362831;18306220;18196870;17922035;17922032;17868030;17666527;17081983;16969516;16964243;16855396;16831056;16807247;16617102;16502042;16244788;16172399;16169070;15489334;15456747;15302935;15254226;15095300;15077195;14871807;14760703;14735193;12920132;12684630;12639951;12527756;12493763;12477932;12431981;12167865;11948399;11804687;11483358;11474200;11146623;10967548;10840944;10444591;9885572;10545197;22176993;22139444;22294699;22844865;21368136;21445634;21448429;20547755;14722073;17671180;17914590;20935042;20427275;20651739;20619094;15978591;16511565;19363681;19377441;19403384;19584269;19805145;20022949;20071335;20185820;19394292;19454010;20697987;20661085;16091750;16288053;20682799;20710043;20717904;16646402;15701600;21047798;18067919;18182442;22575258;22939629;21661415;21258411;20585571;19837670;20127688;21617866;22537306;23343746;23417673;23667531;23752268;21595884;21290196;21555589;21892752;18451880;19703393;21837953;21240515;21725997;21139048;21532573;21890473;21906983;21949998;22184113;22196727;21835429;21965678;22022494;22203674;22253283;21813470;22270359;22098246;22270988;19322201;21670149;22576802;21258344;21336715;23000965;23281010;23352453;22286760;23371285;22700976;22864797;23227138;18768194 9112 C9JJM0;E7ESY4;F8VPC5;F8VSM3;F8W9Y9;H0Y4T7;H0YIT0;H0YIV8;H7C3F3;Q13330;Q9BRL8 AB209348;ABBA01008878;AF508978;AL928654;AMYH01006082;AW732089;BC006177;BC009443;BC142941;BE139515;BX248755;BX248776;CH471061;DN997955;NG_029515;NM_001203258;NM_004689;U35113 AAA78935;AAH06177;AAH09443;AAI42942;AAN01613;BAD92585;CAD66562;CAD66583;EAW81918;EAW81919;EAW81920;EAW81921;EAW81922;EAW81923;NP_001190187;NP_004680;Q13330 Hs.525629 1850261;2134438;2134440;2137323;2138546;2141598;2159026;2159028;2163382;2171431 A008K08;G35503;G36209;RH15744;RH44555;RH44655;RH45087;RH78599;SGC34279;WI-16962 OTTHUMP00000197216;OTTHUMP00000197217;OTTHUMP00000197218;OTTHUMP00000197219;OTTHUMP00000197222;metastasis associated gene 1 protein;metastasis associated protein;metastasis-associated protein MTA1 APPROVED protein-coding ENSG00000182979 7410 04633 603526 REVIEWED 1348021 MTCO1P1 MT-CO1 pseudogene 1 21 p11.2 9734540 9735381 + 56167 AMYH01012120;CR381670;NG_027865 APPROVED pseudo 7420 INFERRED 1346787 MTCO1P2 MT-CO1 pseudogene 2 14 14 q12 32022950 32024179 - 32953299 32954328 - 326603 AL132988;NG_002593 cytochrome c oxidase pseudogene 2 APPROVED pseudo 19932 INFERRED 6482121 MTCO1P3 MT-CO1 pseudogene 3 21 46796106 46796297 - 100873205 ABBA01074195;AMYH01012311;BX322559;NG_032327 pseudo 39604 INFERRED 1347360 MTCO2P1 MT-CO2 pseudogene 1 20 20 20 q13.33 55729277 55729753 - 58422749 58423425 - 58989454 58989930 - 19531499 140909 ABBA01005950;AL121918;AMYH01012031;NG_001007 MTCO2L;dJ342K12.1 cytochrome c oxidase ii-like APPROVED pseudo 16564 INFERRED 6482112 MTCO2P2 MT-CO2 pseudogene 2 18 45379601 45379843 - 100873202 ABBA01018626;AC120349;AMYH01008979;NG_032189 HsT4010 pseudo 25354 INFERRED 6482115 MTCO2P3 MT-CO2 pseudogene 3 13 57778517 57778938 + 100873203 ABBA01037018;AL353657;NG_032320 pseudo 39576 INFERRED 1352145 MTCO3P1 MT-CO3 pseudogene 1 6 p21.3 32673921 32674580 - 404026 ABBA01038131;AL662789;AL731683;AL773543;AMYH01016239;BX248406;BX927168;CR753846;CR933859;NG_027900 U92032.1 APPROVED pseudo 31342 INFERRED 6482113 MTCO3P2 MT-CO3 pseudogene 2 13 24340073 24340243 - 100873207 ABBA01007882;AL139080;AMYH01004970;NG_032347 pseudo 39681 INFERRED 1354048 MTBP Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012] 8 8 8 q24.12 117646783 117724262 + 121526847 121605056 + 121457638 121535875 + 6480464 20305689;22370640;22684342;15632057;14702039;12477932;11060448;10906133;21692053;21274008;21110914;21890473;21906983;23704573 27085 B4DUR5;H0YB28;Q96DY7 ABBA01037836;ABBA01037837;AC105142;AC107877;AK022122;AK300762;AL832671;AMYH01018995;BC013136;CH471060;NG_033151;NM_022045 AAH13136;ABW03419;ABW03745;BAB13965;BAG62427;EAW92006;EAW92007;NP_071328;Q96DY7 Hs.657656 1669502;1774815;2178638;5022578 D1S1423;RH47693;RH65864;WI-17462 MDM2BP MDM2 (mouse double minute 2)-binding protein, 104kD;OTTHUMP00000228250;hMTBP;mdm2-binding protein APPROVED protein-coding ENSG00000172167 7417 12068 605927 REVIEWED 1354317 MTCSB1 mitochondrially encoded conserved sequence block I 4516 7424 1354145 MTCSB2 mitochondrially encoded conserved sequence block II 4517 7425 1344046 MTCSB3 mitochondrially encoded conserved sequence block III 4518 7426 4110020 MTCYBP1 MT-CYB pseudogene 1 Y Y 988550 989660 - 8232073 8233191 + 9847074 100499418 AC025731;NG_023458 APPROVED pseudo 38729 INFERRED 6482159 MTCYBP2 MT-CYB pseudogene 2 Y 21033988 21034158 + 100873168 ABBA01073690;AC009235;NG_032220 pseudo 38807 INFERRED 6482111 MTCYBP3 MT-CYB pseudogene 3 13 96346835 96347956 + 100873204 ABBA01027181;AL138955;AMYH01005306;NG_032321 pseudo 39579 INFERRED 6482158 MTCYBP4 MT-CYB pseudogene 4 6 133471686 133471967 + 100873169 ABBA01025874;AL356774;AMYH01016681;NG_032377 pseudo 41923 INFERRED 1315535 MTA2 metastasis associated 1 family, member 2 This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011] 11 11 q12-q13.1 62117251 62125879 - 62360675 62369312 - 1580863;6480464 15489334;15456747;15016378;14645126;12920132;12705869;12493763;12477932;12374985;12124384;11331609;11297506;11102443;11099047;10471500;9929979;9885572;9804427;9790534;12354758;11171972;10545197;11756549;11062478;10444591;18029348;17081983;16645043;21145461;17626165;17643375;19644445;19702911;19321449;20562859;19686092;19759913;20211142;20704817;11602581;11850410;15701600;16091750;16159877;18067919;18182442;18333962;18413351;19394292;19454010;20585571;23086931;23281010;18451880;15920471;20127688;22833212;22863883;22939629;22990118;21173110;22457607;22586326;18781797;19703393;20639865;21081666;20714342;19471022;21139048;21532573;21549307;21890473;21906983;21252943;21937684;19322201;21670149;21258344;21988832;23000965;23158992;23400716;23455922;23752268;22505724;22797925;22585429 9219 O94776;Q68DB1 AB012922;AB016591;ABBA01003230;AF295807;AI380395;AK301569;AL561056;AMYH01003690;AP001458;BC023656;BC053650;BQ574987;CH471076;CR749481;NM_004739 AAG02241;AAH23656;AAH53650;BAA36562;BAA36707;BAG63063;CAH18309;EAW74031;EAW74032;NP_004730;O94776 Hs.173043 2157917;2191679;2217644 MARC_4683-4684:996679606:1;MTA2_3925;RH46908 DKFZp686F2281;MTA1L1;PID MTA1-L1 protein;OTTHUMP00000236453;OTTHUMP00000236454;OTTHUMP00000236455;metastasis -associated gene 1-like 1;metastasis associated gene family, member 2;metastasis-associated 1-like 1;metastasis-associated protein 2;metastasis-associated protein MTA2;p53 target protein in deacetylase complex APPROVED protein-coding ENSG00000149480 7411 07233 603947 REVIEWED 1315624 MTA3 metastasis associated 1 family, member 3 2 2 p21 42649175 42789857 + 42795671 42936353 + 1580863;6480464 17050676;19505873;16502042;15489334;15454082;15358836;15169784;14702039;14613024;12920132;12705869;12477932;11483358;11181995;10574462;10471500;19363681;18067919;19454010;20865667;22863883;22939629;21196933;21937684;18029348;19322201;18451880;19703393;21139048;21549307;21890473;22075476;21258344;21988832;23000965;23510993;22505724 57504 C9JR73;D6W5A2;E7EQY4;E7EV10;E9PCS8;E9PF88;Q9BTC8 AB033092;ABBA01075070;ABBA01075071;ABBA01075072;ABBA01075073;ABBA01075074;ABBA01075075;AC025750;AC074375;AC093386;AC098824;AF086450;AK027304;AK122690;AK127245;AL161954;AMYH01010289;AMYH01010290;AMYH01010291;BC004227;BC053631;CH471053;NM_020744 AAH04227;AAH53631;AAY14699;AAY24040;AAY24110;BAA86580;BAB55028;CAB82305;EAX00313;EAX00314;EAX00315;EAX00316;EAX00317;NP_065795;Q9BTC8 Hs.435413;Hs.745162 1656368;1658198;1687495;2162061;5037552;5037554;5112327 BCD1971;D8S2279;D8S2282;RH103421;RH65437;RH94235;SHGC-64953 KIAA1266 OTTHUMP00000197384;OTTHUMP00000197385;OTTHUMP00000197386;OTTHUMP00000197387;OTTHUMP00000197388;OTTHUMP00000197391;OTTHUMP00000202136;metastasis associated family, member 3;metastasis associated gene family, member 3;metastasis-associated protein MTA3 protein-coding ENSG00000057935 23784 12359 609050 PROVISIONAL 1320830 MTAP methylthioadenosine phosphorylase This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008] 9 9 p21 21792635 21855970 + 21802635 21865970 + 1580863;2317952;2317953;2317954;6480464;6907045;7242932;7240710 15534104;16373701;15662124;2292587 16778103;8687427;19001417;19427650;19272367;18555557;18237276;16631464;16618910;16081515;15832197;15511635;15492751;15489334;15302935;14506228;12875987;12477932;12438261;11985785;11566337;11126361;10404592;8650244;7604019;6425836;12826659;21412930;19578364;19578365;19665068;19887491;20081810;20302706;20574843;20647408;21342647;21606135;20637465;21356366;19622299;21135097;23000879;22863883;15852347;21962134;10053015;13511301;23040436;21139048;21890473;21906983;21985704;22464254;21983787;19322201;21988832;23000965;22685558 4507 B4DUC8;F8WES2;J3KRN1;J3QSB7;Q9H010 AB062485;ABBA01065175;AF109294;AF216650;AK024734;AK300592;AK309365;AL359922;AMYH01019275;AY712791;BC012316;BC018625;BC026106;BG576334;BM994282;BQ220538;BQ232183;CA440131;CH471071;CR541670;CR541710;HE654772;HE654773;HE654774;HE654775;HE654776;HE654777;L40432;NG_032650;NM_002451;U22233 AAA81646;AAD19641;AAF82688;AAG38871;AAH12316;AAH18625;AAH26106;AAU04442;ADZ15679;BAB93510;BAG62290;CAG46471;CAG46511;CCF77345;CCF77346;CCF77347;CCF77348;CCF77349;CCF77350;EAW58605;EAW58606;NP_002442;Q13126 Hs.193268 1340399;1662416;1703802;1710004;1738461;1739831;2144002;5014051;5017342;5022578;5022651;5037552;7187635 D11S2921;D1S1423;D8S2278;D8S2279;D9S1607;D9S171;D9S1749;D9S916;RH79128;SHGC-14428;SHGC-78937;SHGC-82272 BDMF;DMSFH;DMSMFH;LGMBF;MSAP;c86fus 5'-methylthioadenosine phosphorylase;MTA phosphorylase;MTAPase;MeSAdo phosphorylase;OTTHUMP00000021152;S-methyl-5'-thioadenosine phosphorylase APPROVED protein-coding ENSG00000099810 7413 01134 112250;156540 REVIEWED 1317645 MTCH2 mitochondrial carrier 2 11 11 p11.2 47595446 47620640 - 47638858 47664206 - 1580863;6480464 19164386;19079261;15899861;15489334;12477932;12407445;11042152;8125298;15604093;19692490;19746409;19812171;19851340;19910641;19910938;20215397;20386550;20935630;20712903;20724581;20725061;20816152;20816195;20877624;20571754;23182705;23266187;22939629;22179955;16196087;18029348;21795451;22416135;18781797;21987572;19471022;21139048;21906983;19805454;21963094;23229156;22190034;22505724;22797925;22443470 23788 E9PIE4;F5H3Y2;Q9Y6C9 ABBA01060697;AC104942;AF085361;AF176008;AK223097;AK295218;AK313032;AMYH01003545;AMYH01003546;AMYH01003547;AY380792;BC000875;CH471064;CQ871294;CS488907;DB482853;NM_014342 AAD40196;AAD52646;AAH00875;AAQ88168;ABM82736;ABM85919;BAD96817;BAG35865;BAG58212;CAH56828;CAM55981;EAW67892;NP_055157;Q9Y6C9 Hs.269944 1683789;1691200;2124681;2124683;2137084 A005S26;G20463;RH26663;RH27471;RH45757 HSPC032;MIMP;SLC25A50 2310034D24Rik;OTTHUMP00000234441;OTTHUMP00000234442;met-induced mitochondrial protein;mitochondrial carrier 2;mitochondrial carrier homolog 2;solute carrier family 25, member 50 APPROVED protein-coding ENSG00000109919 17587 14788 613221 VALIDATED 1319508 MTCH1 mitochondrial carrier 1 This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012] 6 6 6 p21.2 38490892 38508924 - 37043895 37061927 - 36935917 36953949 - 1580863;6480464 12975309;10551805;12377771;18291114;17670888;15489334;14702039;14574404;12477932;10810093;8125298;18375015;21856303;20379614;20877624;22939629;21139048;21890473;22277967;23266187;23000965;23207240;22190034 23787 A8YXX5;B4E0C5;H0Y8C3;H7C196;Q5TDC2;Q9UJZ5 ABBA01038269;AF151822;AF176006;AF189289;AF192559;AK022783;AK130842;AK225628;AK303318;AK315067;AL122034;AMYH01016277;AY358519;AY947344;BC000702;BC006507;BC009962;BC040659;BC110914;BC125055;BC125056;BC153873;CA412877;CH471081;CQ871250;DR005492;NM_001271641;NM_014341 AAD34059;AAD52644;AAF07936;AAF12793;AAH00702;AAH06507;AAH09962;AAH40659;AAI10915;AAI25057;AAI53874;AAQ88883;AAY57875;BAG37540;BAG51115;BAG64387;CAH56806;EAX03925;EAX03926;EAX03927;EAX03928;EAX03929;EAX03930;EAX03931;NP_001258570;NP_055156;Q9NZJ7 Hs.485262 1673548;1675379;1773043;1788662;1850549;2109531;5022010 D6S1337;MTCH1;MTCH1_9400;RH1526;RH18159;RH93326;WI-5783 CGI-64;MGC131998;PIG60;PSAP;SLC25A49 OTTHUMP00000016315;OTTHUMP00000016317;OTTHUMP00000016318;OTTHUMP00000215719;cell proliferation-inducing protein 60;mitochondrial carrier homolog 1;presenilin-associated protein;solute carrier family 25, member 49 APPROVED protein-coding ENSG00000137409 17586 14787 610449 REVIEWED 1343111 MTCP1 mature T-cell proliferation 1 This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009] X X q28 153943080 153952830 - 154292309 154299547 - 1580863;6480464 8361760;17136114;16381901;16189514;15489336;15489334;12477932;11707444;11076863;10959629;9691281;9520380;9518463;9315101;8634440;8247530;8152252;1303175;10983986;19064571;21832049;19322201 4515 P56278 AA744518;ABBA01029113;ABBA01029114;ABBA01029115;AMYH01023322;AW976554;BX470111;CH471172;NG_029506;NM_001018025;Z24458;Z24459 CAA80828;EAW72640;EAW72641;EAW72642;NP_001018025;P56278 Hs.6917 1813316;1813462;1817474;1820278;1820344;1820478;1824090;1824486;1826778;1826882;1828672;1831506;1843464;2103166;2189485;2217648 ECD07679;ECD07752;ECD09787;ECD11213;ECD11247;ECD11314;ECD13141;ECD13341;ECD14504;ECD14556;ECD15463;ECD16890;ECD22941;MARC_7353-7354:992008374:4;MTCP1_2941;stSG604429 P13MTCP1;p8MTCP1 MTCP-1 type B1;OTTHUMP00000024241;OTTHUMP00000082776;mature T-cell proliferation 1 isoform p13;mature T-cell proliferation-1 type B1;protein p13 MTCP-1 APPROVED protein-coding ENSG00000214827 7423 02122 300116 REVIEWED 736231 MTERF mitochondrial transcription termination factor This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008] 7 7 q21-q22 91339957 91347952 - 91502021 91510016 - 6480464 9118945;18063578;17884915;15899902;15489334;15087485;14744862;12853948;12690205;12477932;9847074;8125298;7681833;20543826;20877624;20846394;16336784;19681768;20379614;20550934;21450691;21447778;20186120;21326908;23251661 7978 B4DPR9;C9JE25;C9JNM8;C9JU79;Q99551 AACC02000014;ABBA01045819;AC003086;AK222730;AK298469;AK313641;AL832861;AMYH01017687;BC000965;BC108648;BC130389;BC130391;CH236949;CH471091;NM_006980;Y09615 AAB83941;AAH00965;AAI08649;AAI30390;AAI30392;ABM85067;ADR83157;BAD96450;BAG36399;BAG60681;CAA70830;EAL24159;EAW76869;NP_008911;Q99551 Hs.532216 2107417 MTERF__7301 MGC131634 OTTHUMP00000209142;OTTHUMP00000209146;mitochondrial transcription termination factor 1;transcription termination factor, mitochondrial APPROVED protein-coding ENSG00000127989 21463 08373 602318 VALIDATED 1602073 MTERFD2 MTERF domain containing 2 2 2 2 q37.3 235696211 235711450 - 241675180 241690397 - 242026509 242041747 - 6480464 22675492;16713569;16344560;15489334;14702039;12477932;23314748;21832049;20186120;21890473 130916 B4DFP7;B4DKD5;B5MBW3;C9JNJ7;C9JX74;E7EW93;H7C1N9;H7C316;H7C3Q3;Q7Z6M4 AA907534;ABBA01006038;AC005237;AF161359;AK025374;AK055474;AK093695;AK124444;AK126322;AK131298;AK291665;AK294192;AK296515;AMYH01011628;BC044641;BC053533;BM454834;BX648184;CD388157;CH471063;DA496994;DB256263;NM_182501;NR_028049;NR_028050;NR_028051 AAF28919;AAH53533;BAF84354;BAG57508;BAG59147;EAW71234;EAW71235;NP_872307;Q7Z6M4 Hs.159556 1661646;1671426;1689211;1716143;2109873;2141078;2146377;2151586;2159854;2179763;2184091 A002H36;D2S1611E;D2S2890;G42008;G42010;RH121037;RH12328;RH93931;SHGC-23196;SNED1_9445;STS-Z41119 FLJ16261;MGC61716;MTERF4 OTTHUMP00000200479;OTTHUMP00000200519;mTERF domain-containing protein 2;mitochondrial transcription termination factor 4 protein-coding ENSG00000122085 28785 14699 VALIDATED 1603051 MTERFD1 MTERF domain containing 1 8 8 8 q22.1 93437637 93459789 - 97320821 97342972 - 97251645 97273796 - 6480464 14702039;18029348;15489334;21145461;12477932;10810093;20577816;17207965;20877624;17662942;21832049;22939629;20186120 51001 E5RI75;E5RIK9;E5RIY4;G3V130;Q96E29 ABBA01037490;ABBA01037491;ABBA01037492;AF132946;AK001801;AK309002;AMYH01018908;AP003465;BC012995;CH471060;NM_015942 AAD27721;AAH12995;ADQ32770;BAG50978;EAW91750;EAW91751;EAW91752;NP_057026;Q96E29 Hs.308613 CGI-12;FLJ10939;mTERF3 OTTHUMP00000227280;OTTHUMP00000227281;OTTHUMP00000227283;mTERF domain-containing protein 1, mitochondrial;mitochondrial transcription termination factor 3 protein-coding ENSG00000156469 24258 10823 PROVISIONAL 1604591 MTERFD3 MTERF domain containing 3 12 12 12 q24.1 107036630 107046488 - 105895199 105905059 - 107371069 107380929 - 6480464 16226716;15489334;14702039;12477932;8125298;20577816;20877624;20430012;16344560 80298 F8VSD8;F8VSL4;F8VXH5;Q49AM1 ABBA01053160;AC007541;AK024124;AK222558;AL832827;AMYH01004726;AY008301;BC008486;BC025984;BC036066;BC050361;BC068468;CH471054;DA074327;NM_001033050;NM_025198 AAG22860;AAH25984;AAH36066;ABZ92132;BAB14834;BAD96278;CAI46173;EAW97792;EAW97793;EAW97794;NP_001028222;NP_079474;Q49AM1 Hs.5009 1756321;2176587 SGC31762;SHGC-143306 FLJ14062;mTERF2;mTERFL OTTHUMP00000242603;OTTHUMP00000242604;OTTHUMP00000242608;mTERF domain-containing protein 3, mitochondrial;mitochondrial transcription termination factor 2;mitochondrial transcription termination factor-like protein protein-coding ENSG00000120832 30779 17431 VALIDATED 1319031 MTF1 metal-regulatory transcription factor 1 This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008] 1 1 p33 38047826 38097879 - 38275239 38325292 - 1580863;6480464 3208749;19286843;19058789;19022893;18990686;17503480;16710414;16189514;15489334;15318808;14702039;14610091;12716893;12477932;11923282;11306562;11004505;10504263;8125298;8065932;15735762;12805380;19060904;19797083;19913599;19956853;20026331;20688958;16751776;18458062;21386983;21798283;22057392;18029348;22021037;22493691;23368743 4520 Q14872 ABBA01023262;ABBA01023263;AI915521;AJ251881;AK125603;AK225923;AK298751;AK309584;AK314233;AL702908;AL929472;AMYH01000505;BC014454;CH471059;D31907;NM_005955;X78710 AAH14454;BAA22262;BAG36903;BAG60893;CAA55363;CAB71327;EAX07312;NP_005946;Q14872 Hs.471991 1698726;2107419;2119052;2164142;2174847;5015619 D11S3114;G27427;MTF1__7302;RH102923;STS-AA022685;WI-9347 MGC23036;MTF-1;ZRF MRE-binding transcription factor;MRE-binding transcription factor-1;OTTHUMP00000004731;metal regulatory transcription factor 1;metal-responsive transcription factor 1;transcription factor MTF-1;zinc regulatory factor APPROVED protein-coding ENSG00000188786 7428 02546 600172 REVIEWED 735692 MTDH metadherin 8 8 q22.1 98725583 98807714 + 98656407 98742488 + 6480464 16452207;18316612;18440304;15927426;19448665;19383828;19304953;19221438;19111877;18519759;18029348;17704808;17563745;17397930;17088530;17081983;15489334;15383321;15093543;14980505;14702039;12477932;11823860;22056881;20802479;21957284;21750404;21852380;19615732;19633686;19648967;19740331;19940250;20053777;20388776;20388796;20952513;20236756;21127263;21478147;20625905;20845990;22689379;21293286;21259255;21256156;20565850;22246354;22939629;21609571;22938468;23011158;21408129;21084864;21150314;21371176;21495225;22967897;17342744;21182205;21448238;21543927;20300973;21139048;21890473;21906983;21753766;21145461;22643064;22367022;21750868;21964981;23142337;22031094;21976539;22199357;21412050;22133054;22195048;22204714;22470125;22372608;22340175;22351252;22412018;23307243;23364922;19805454;21963094;22113938;23000965;23065261;23023948;23240043;23408429;22363329;22768080;22898150 92140 E5RJU9;H0YB56;H0YBE0;H0YBJ8;Q86UE4 ABBA01037507;ABBA01037508;ABBA01037509;ABBA01037510;ABBA01037511;ABBA01037512;AF411226;AF501310;AK000745;AK123083;AK308030;AMYH01018913;AMYH01018914;AP002982;AP003114;AP003357;AY082966;AY974040;BC001815;BC009324;BC014977;BC022825;BC023994;BC045642;CH471060;NM_178812 AAH09324;AAH14977;AAH45642;AAL92861;AAO65771;AAP30791;AAX84832;ADZ15972;EAW91760;EAW91761;EAW91762;NP_848927;Q86UE4 Hs.377155 1660664;1722237;1735770;1735844;1739585;1771481;1851049;1853434;2117495;2140765;2152754;2158732;2172140;5014029;5023406 A007D43;D13S1639;D8S1375E;D8S1439E;D8S1676E;D8S2022;G60024;RH17796;RH36459;RH45730;RH69405;SGC44379;SHGC-34109;WI-16602;WIAF-2226 3D3;AEG-1;AEG1;LYRIC;LYRIC/3D3 3D3/LYRIC;OTTHUMP00000227231;OTTHUMP00000227366;astrocyte elevated gene-1 protein;lysine-rich CEACAM1 co-isolated protein;metastasis adhesion protein;protein LYRIC protein-coding ENSG00000147649 29608 17459 610323 VALIDATED 1605093 MTF2 metal response element binding transcription factor 2 1 1 1 p22.1 91798959 91858790 + 93317431 93375711 + 93544792 93604638 + 6480464 16344560;15563832;15231748;12477932;7772254;20211142;16169070;20123894;8619255;21900206;19322201 22823 B1AKT6;B4DZ69;B4DZG1;Q7Z534;Q96G26;Q9Y483 ABBA01045526;AC093577;AF072814;AF073293;AF086050;AF086908;AJ010014;AK290318;AK302776;AK302900;AL117354;AMYH01000801;BC001897;BC010013;BQ025793;CA417978;CH471097;DB173315;NM_001164391;NM_001164392;NM_001164393;NM_007358 AAC27080;AAC27618;AAH10013;AAP97138;BAF83007;BAG63981;BAG64073;CAA08970;EAW73083;EAW73084;EAW73085;NP_001157863;NP_001157864;NP_001157865;NP_031384;Q9Y483 Hs.712767 2150409;2158043;2159821;2166450;2178672 D1S3507;SHGC-75142;SHGC-75154;SHGC-75155;SHGC-75156 M96;PCL2;RP5-976O13.1;TDRD19A;dJ976O13.2 OTTHUMP00000011846;OTTHUMP00000012415;hPCl2;metal regulatory transcription factor 2;metal response element-binding transcription factor 2;metal-response element DNA-binding protein M96;metal-response element-binding transcription factor 2;polycomb-like 2;polycomb-like protein 2;putative DNA binding protein;tudor domain containing 19A protein-coding ENSG00000143033 29535 14342 609882 VALIDATED 1604246 MTFMT mitochondrial methionyl-tRNA formyltransferase The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011] 15 15 15 q22.31 42172045 42200175 - 63081901 63109018 - 65293850 65321977 - 6480464;6907045 15489334;14702039;12477932;9614118;20877624;21832049;21907147;19322201 123263 B7Z734;H3BTN9;Q96DP5 ABBA01038862;ABBA01038863;AC013553;AC103691;AK055688;AK301390;AMYH01006714;AMYH01006715;BC016630;BC033687;BQ774051;CH471082;DC295382;NG_029184;NM_139242 AAH16630;AAH33687;BAB70984;BAH13470;EAW77706;EAW77707;NP_640335;Q96DP5 Hs.531615 1683132;5014051;5015861;5016478;5022578;5037552;7185938 D10S16;D1S1423;D8S2278;D8S2279;GDB:434012;RH103281 COXPD15;FMT1 methionyl-tRNA formyltransferase, mitochondrial APPROVED protein-coding 29666 14799 611766;614947 REVIEWED 1605712 MTFR1 mitochondrial fission regulator 1 This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009] 8 8 8 q13.1 62548374 62614202 + 66719528 66785340 + 66556888 66622798 + 6480464 10942595;17709566;15489334;15389597;12477932;12359332;7584028;7584026;16169070;17207965;20877624;21900206;21139048 9650 B4E3G8;E5RIB6;E5RJS5;H0YBZ4;H0YF01;H7C5V5;Q15390 AA015794;ABBA01041862;ABBA01041863;ABBA01041864;AC055822;AK298945;AK304716;AK316202;AMYH01018769;AMYH01018770;AW157714;BC036116;BC043498;BX537854;BX647507;CH471068;CR456910;D13634;NM_001145838;NM_001145839;NM_014637 AAH36116;AAH43498;ADQ33046;BAA02798;BAG61044;BAG65480;BAH14573;CAD97862;CAG33191;EAW86881;EAW86882;NP_001139310;NP_001139311;NP_055452;Q15390 Hs.584788 1652402;1681851;1774453;2117674;2160605;2161406;5123125 A007H14;D8S1601;RH25249;RH78376;RH98537;STS-D13634;WI-19132 CHPPR;FAM54A2;KIAA0009 OTTHUMP00000226764;OTTHUMP00000226769;OTTHUMP00000226772;chondrocyte protein with a poly-proline region;mitochondrial fission regulator 1 APPROVED protein-coding ENSG00000066855 29510 12389 REVIEWED 1606533 MTFR1L mitochondrial fission regulator 1-like 1 1 1 p36.11 24542498 24555529 + 26018984 26032020 + 26146397 26159433 + 6480464 11256614;16381901;16344560;15489336;15221005;14702039;12477932;11230166;11076863;9110174;8889548;8619474;21139048;21906983 56181 C9JF50;E9PIF9;E9PJP7;E9PLD2;E9PLU1;E9PNJ0;E9PPF9;E9PPQ0;E9PRK5;E9PRW1;E9PSD6;Q9H019 AB075880;ABBA01034887;AF173891;AK056721;AK127164;AK290744;AK299221;AK314297;AL020996;AL512766;AMYH01000394;AY007100;BC017175;BI545005;BI769886;BM968565;BX647921;CH471059;DB170641;NM_001099625;NM_001099626;NM_001099627;NM_019557 AAH17175;AAQ13638;BAD38662;BAF83433;BAG36952;BAG51797;BAG61257;CAC21683;CAH56194;CAL38353;EAX07865;EAX07866;EAX07868;NP_001093095;NP_001093096;NP_001093097;NP_062457;Q9H019 Hs.149305 1736156;2160412;5037552 D1S2019E;D8S2279;SHGC-74388 FAM54B;HYST1888;MST116;MSTP116 OTTHUMP00000008508;OTTHUMP00000008509;OTTHUMP00000008510;OTTHUMP00000008511;OTTHUMP00000235244;OTTHUMP00000235249;OTTHUMP00000235280;OTTHUMP00000235283;family with sequence similarity 54, member B;hypothetical protein LOC56181;mitochondrial fission regulator 1-like;protein FAM54B APPROVED protein-coding ENSG00000117640 28836 14248 VALIDATED 1604816 MTFP1 mitochondrial fission process 1 MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008] 22 22 22 q 14621410 14624732 + 29151720 29155041 + 30821611 30825041 + 6480464 18660489;15998911;15790807;15489334;15461802;15155745;12477932;11042152;10591208;9847074;8889548;20877624;15985469;16712791;19578796;19878569;21139048;22747683 51537 B5MC22;F8WEN7;Q9UDX5 ABBA01055297;AC004832;AF060924;AF151076;AK026104;AMYH01012707;BC001608;BC009300;BC014446;BC030989;BC038831;BC046132;BQ187590;CB107806;CB142469;CH471095;CR456345;CS185601;NM_001003704;NM_016498 AAF19257;AAF36162;AAG43136;AAH01608;AAH09300;AAH14446;AAH30989;AAH38831;AAH46132;CAG30231;CAJ42782;EAW59889;EAW59890;EAW59891;NP_001003704;NP_057582;Q9UDX5 Hs.713636 1846572;2173741 A004Y09;RH77730 HSPC242;MTP18 OTTHUMP00000199027;OTTHUMP00000199055;OTTHUMP00000199057;mitochondrial 18 kDa protein;mitochondrial fission process protein 1;mitochondrial fission protein MTP18;mitochondrial protein 18 kDa APPROVED protein-coding ENSG00000242114 26945 17612 610235 VALIDATED 1345036 MTHFD1P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 X X p11.21 61273023 61276027 - 57418881 57421885 - 1916813 4523 ABBA01069327;AL928898;AMYH01022462;NG_026706;S57009 FLJ31204;MTHFDL1;MTHFDP1 pseudo 7433 INFERRED 1344224 MTG2 mitochondrial ribosome-associated GTPase 2 Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] 20 20 20 q13.33 57493254 57512996 + 60191476 60211218 + 60758081 60777823 + 1580863;6480464 15489334;17054726;16344560;14702039;12477932;11780052;16712791;20877624;17207965;21608104;21900206;21890473;23396448 26164 B4DR85;B4DRC1;E7EU10;Q5JXJ0;Q9H4K7 ABBA01040103;ABBA01040104;AK001603;AK124572;AK299147;AK299189;AK299726;AK316027;AK316325;AL078633;AL117498;AMYH01012045;AMYH01012046;BC007885;BC012073;BC036716;BC040178;BI087669;BU857001;CA976010;CB127579;CH471077;DA970672;NM_015666 AAH36716;ADQ32222;BAA91783;BAG61197;BAG61233;BAG61624;BAH14398;BAH14696;CAB55963;EAW75386;EAW75387;EAW75388;NP_056481;Q9H4K7 Hs.340636 1660623;1661110;1721423;2158301;2169834;2169836;5014051;5015404;5022200;5022651;5037552 A006G17;D11S2921;D20S1024;D8S2278;D8S2279;G20785;G59563;L17705;L18426;RH28300;RH47791 FLJ10741;MGC29512;ObgH1;dJ1005F21.2 GTP-binding protein 5;GTP-binding protein 5 (putative);OTTHUMP00000031455;OTTHUMP00000031457;protein obg homolog 1 APPROVED protein-coding ENSG00000101181 16239 13617 610919 VALIDATED 1603933 MTG1 mitochondrial ribosome-associated GTPase 1 10 10 10 q26.3 128283666 128310098 - 135057611 135084164 + 135207621 135234174 + 6480464 16344560;15489334;15342797;15164054;14702039;14527721;12808030;12477932;16169070;18482256;20877624;18029348;20186120;21832049;23396448 92170 E7EVK2;E9PI62;Q9BT17 ABBA01006216;AK074976;AK095872;AK125012;AK292515;AK293988;AK308997;AL161645;AL360181;AL451057;AMYH01003240;AMYH01003241;BC000920;BC004409;BC026039;BC026725;BC035721;CH471211;CQ782949;DB136242;NM_138384 AAH00920;AAH04409;AAH26039;AAH35721;ACE86427;ACE87102;BAC11327;BAF85204;BAG54121;BAG57354;CAF86177;EAW61348;EAW61349;NP_612393;Q9BT17 Hs.501578 1655652;1677740;1771306;1773987;2134311;2135076;2146034;2146036;2146365 A002U38;A006I19;D10S1371E;G06274;G20843;RH44494;RH78812;RH91171;WI-18269 GTP;GTPBP7;RP11-108K14.2 GTP-binding protein 7 (putative);OTTHUMP00000020814;OTTHUMP00000233441;mitochondrial GTPase 1;mitochondrial GTPase 1 homolog APPROVED protein-coding ENSG00000148824 32159 11602 VALIDATED 7246994 MTHFD2P4 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 4 100131135 ABBA01070255;AC108162;AMYH01014661;NG_022088 pseudo 48862 INFERRED 7247096 MTHFD2P5 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 442707 AACC02000015;ABBA01058078;AC004894;AMYH01017650;CH236949;NG_005547 pseudo 48863 INFERRED 7246992 MTHFD2P6 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 100130042 ABBA01024237;AC010408;AMYH01015051;NG_021846 pseudo 48864 INFERRED 1344625 MTFR2 mitochondrial fission regulator 2 6 6 6 q23.3 137292609 137311889 - 136593861 136613142 - 136552168 136571449 - 6480464 16344560;15489334;14702039;14574404;12477932;21145461;17207965;21139048;21906983;22505724 113115 E9PN39;H0YEA6;Q6P444 AA830483;ABBA01025830;AK125758;AK292303;AL121713;AL138828;AMYH01016696;BC011716;BC063688;BG831782;CH471051;DB016393;NM_001099286;NM_138419 AAH11716;AAH63688;ADQ32558;BAC86277;BAF84992;EAW47953;EAW47954;EAW47955;NP_001092756;NP_612428;Q6P444 Hs.121536 1696570;5112215 RH102381;SHGC-78186 DUFD1;FAM54A DUF729 domain containing 1;DUF729 domain-containing protein 1;OTTHUMP00000017271;OTTHUMP00000017272;OTTHUMP00000017273;family with sequence similarity 54, member A;mitochondrial fission regulator 2;protein FAM54A APPROVED protein-coding ENSG00000146410 21115 16884 VALIDATED 7247190 MTHFD2P7 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 442098 ABBA01058536;AC007620;AMYH01013687;NG_022282 pseudo 48865 INFERRED 7246993 MTHFD2P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1 14702039;16344560 100287639 ABBA01026957;AC131151;AK092228;AMYH01013344;BJ991572;BJ991573;DA705646;DB323975;NR_077228 Hs.591320 pseudo 48859 VALIDATED 1342984 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011] 6 6 q25.1 151228384 151464716 + 151186815 151423023 + 6480464;6907045;7242557 22108709 17353931;16171773;12937168;19336575;18978678;17634449;15611115;15068241;15013446;12477932;19019082;22330827;22586326;18804703;19373437;19615732;19777576;19955471;18029348;20738937;20877624;20885792;19913121;20628086;20694560;21540461;16344560;21139048;22277967;21383495;21741665;21145461;22520921 25902 B2RD24;B7ZM99;H0Y327;H0Y4F9;Q4VXM0;Q4VXM1;Q4VXV2;Q5JYA3;Q5JYA4;Q5JYA5;Q5JYA8;Q6UB35 AA478842;AB127387;ABBA01025652;ABBA01025653;ABBA01025654;AK024798;AK127089;AK310342;AK315378;AL035086;AL049694;AL117452;AL133260;AMYH01016745;AV704883;AW593866;AY374130;AY374131;BC008629;BC017477;BC110319;BC136685;BC144368;BC144369;BE735249;BQ062382;CH471051;CS482713;CS482716;DA195967;DB727926;HB883499;HB895224;HC940908;HC952633;NG_029185;NM_001242767;NM_001242768;NM_001242769;NM_015440 AAH08629;AAH17477;AAI10320;AAI36686;AAI44369;AAQ82696;AAQ82697;BAB15009;BAD93193;BAG37771;CAB55934;CAM36319;CAM36320;CBF65969;CBF74049;CBU90841;CBU96477;EAW47760;EAW47761;EAW47762;EAW47763;NP_001229696;NP_001229697;NP_001229698;NP_056255;Q6UB35 Hs.591343 1335672;1336436;1678689;1718839;1854365;1854528;2148260;2149840;5112183;7184443 D2S337;D6S956;RH102196;RH123123;RH15823;RH48516;RH93531;STS-N30148;WI-13575 DKFZp586G1517;FLJ21145;FTHFSDC1;MTC1THFS;RP1-292B18.2;dJ292B18.2 10-formyl-THF synthetase;OTTHUMP00000017418;formyltetrahydrofolate synthetase domain containing 1;mitochondrial C1-tetrahydrofolate synthase;mitochondrial C1-tetrahydrofolate synthetase;monofunctional C1-tetrahydrofolate synthase, mitochondrial APPROVED protein-coding ENSG00000120254 21055 09967 611427 REVIEWED 1351631 MTHPR mitochondrially encoded replication primer 4525 7438 1345264 MTHSP1 mitochondrially encoded major H-strand promoter 4526 7439 1353032 MTHSP2 mitochondrially encoded minor H-strand promoter 4527 7440 1345478 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 4 4 4 q13.3 72383935 72529069 + 75207855 75387680 + 75023829 75168816 + 6480464;6907045;7242557 22108709 14702039;12477932;22610502;20877624;21163947 441024 F8W7P9;Q8IY64;Q9H903 ABBA01022994;AC093677;AC097470;AI219460;AK021544;AK122799;AMYH01014303;AV720429;BC032771;BC037529;BC041943;BC065771;BG566009;BG708427;BI602959;BQ015209;CA438481;CH471057;NM_001144978 AAH32771;AAH37529;AAH65771;AAY40953;EAX05702;EAX05703;EAX05704;EAX05705;EAX05706;EAX05707;NP_001138450;Q9H903 Hs.721011;Hs.740700;Hs.740707 1696936;1701260;1752525;1761317;2158144;2182151;2183349;5020948 G33909;G35510;RH101940;RH104258;SHGC-106408;SHGC-145327;SHGC-8172;SHGC4-1555 FLJ13105;MGC45532;MGC72244 MTHFD2-like;NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein;OTTHUMP00000211520;OTTHUMP00000211524;probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 protein-coding ENSG00000163738 31865 17608 614047 PROVISIONAL 1351566 MTIF2P1 mitochondrial translational initiation factor 2 pseudogene 1 1 1 1 p11.2 179658497 179660089 + 120945567 120947308 + 121244123 121245715 + 17903296;12932832 80713 ABBA01003876;AL592494;AMYH01000981;AY091592;NG_002684 pseudo 14861 INFERRED 732147 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008] 14 14 q24 63924846 63996474 + 64854759 64926725 + 1600189;1600190;1580863;1299513;1300048;6480464;6907045;7240710;7242557;7242562;7242561 16315005;9611072;2186031;22108709;22353665;22332074 3053686;17353931;3528153;19527514;19493349;19336370;19328558;19167960;19161160;19130090;19112534;19064578;19048631;19020309;19019335;18992148;18988749;18818748;18801628;18771981;18767138;18635682;18427977;18277167;18261183;18221821;17894836;17691219;17548676;17533396;17530705;17449906;17438114;17436311;17417062;17114913;17035141;16712703;16552426;16328059;16236726;16123074;15953655;15937947;15861780;15797993;15719048;15633187;15503105;15489334;15122597;14647408;14632302;12665801;12477932;12384833;12015164;10828945;9519408;3877056;3074630;2786332;2587219;2183217;18029348;19533788;19619240;19649727;19651439;19683694;19706844;19706888;19734545;19737740;19774638;19858780;19936946;19946345;20056620;20209990;20217437;20334533;20374669;20386493;20447924;20453000;20458436;21090237;20594233;19913121;20544798;20565774;20570913;20615890;20628086;20634891;20737570;20140262;20824655;20852008;20877624;20890936;21055808;21254748;22863883;21271780;22939629;17342744;16196087;21349258;21081666;21360829;21537707;22079093;21252943;21139048;21890473;21906983;20473970;21628590;22339736;21145461;21319273;22074251;21853274;22053931;22505724;22797925 4522 F5H2F4;G3V2B8;G3V3L6;P11586 ABBA01018358;ABBA01018359;ABBA01018360;ABBA01018361;AK302747;AK309266;AK312361;AL122035;AMYH01005798;AMYH01005799;BC001014;BC009806;BC050420;BQ959308;CA446032;CH471061;DC368835;J04031;NG_012450;NM_005956 AAA59574;AAH01014;AAH09806;AAH50420;ABM84560;ABM87852;BAG35279;BAH13795;EAW80857;EAW80858;NP_005947;P11586 Hs.652308 1651140;1668465;1770081;2157404;2165568;2175227;2183311;5113363;5125081 D14S1185;G17812;G35374;G35893;G35987;RH65696;RH66227;SHGC-8058;hummdmcs MTHFC;MTHFD 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase;C-1-tetrahydrofolate synthase, cytoplasmic;C1-THF synthase;OTTHUMP00000180657;OTTHUMP00000245366;c1-tetrahydrofolate synthase;cytoplasmic C-1-tetrahydrofolate synthase APPROVED protein-coding ENSG00000100714 7432 01403 172460 REVIEWED 1352649 MTL2 metallothionein-like 2 4530 7443 1349197 MTL3P metallothionein-like 3, pseudogene 18 q22.1 66195267 66195356 + 4531 ABBA01056270;AC067819;AMYH01009071;NG_032177 MTL3 APPROVED pseudo 7444 INFERRED 1350786 MTL4 metallothionein-like 4 6719135;6089206 4532 7445 1604316 MTHFSD methenyltetrahydrofolate synthetase domain containing 16 16 16 q24.1 70864746 70889806 - 85121283 85146342 - 86563782 86588841 - 6480464 21145461;14702039;12477932;19913121;20628086;20308539;22939629 64779 B4DN17;F5H0M7;H3BML0;H3BMX6;H3BNE5;H3BP93;H3BPD2;H3BQU0;H3BSB5;H3BSD1;H3BSW8;H3BUU0;H3BVG2;Q2M296 ABBA01034302;ABBA01034303;AC009108;AI263847;AK023060;AK023955;AK096836;AK125015;AK297726;AMYH01007897;BC013911;BC112057;BC112059;BC143702;BC143703;BC143704;BC143705;BC143707;CH471114;NM_001159377;NM_001159378;NM_001159379;NM_001159380;NM_022764;NR_027489;NR_027490 AAI12058;AAI12060;AAI43703;AAI43708;BAB14383;BAB14739;BAG53372;BAG60079;EAW95418;EAW95419;EAW95420;EAW95421;EAW95422;NP_001152849;NP_001152850;NP_001152851;NP_001152852;NP_073601;Q2M296 Hs.343627 1680252;1691216;1849365 RH80421;RH92076;SHGC-60741 FLJ12998;FLJ13893;MGC138262;MGC138264;MGC177233 methenyltetrahydrofolate synthase domain-containing protein;methenyltetrahydrofolate synthetase domain-containing protein protein-coding ENSG00000103248 25778 07808 VALIDATED 1343644 MTLSP mitochondrially encoded L-strand promoter 4533 7447 1322701 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009] 2 2 2 p13.1 74256899 74273604 + 74279198 74295933 + 74425690 74442425 + 1540378;1580863;2302305;6480464;6907045;7242560;7242557 9454603;3878730;20645850;22108709 21145461;8218174;19493349;19161160;19048631;18830263;18676680;16344560;15815621;15489334;12477932;8939898;8125298;2587219;17353931;15342116;16712791;20634891;19170196;19625176;19692168;20453000;20877624;22939629;21139048;21890473;21906983;19322201;22114354;22190034 10797 B4DY35;B8ZZU9;B9A062;F8WF06;F8WF89;P13995;Q7Z650 ABBA01075598;AC073263;AK130664;AK222826;AK223041;AK300035;AK302245;AK313138;AMYH01010454;AU125762;BC001548;BC015062;BC017054;BX475613;CB124593;CH471053;NG_029162;NM_006636;NR_027405;X16396 AAH01548;AAH15062;AAH17054;AAX93061;ABM85605;BAD96546;BAD96761;BAG35957;BAG61846;BAG63597;CAA34431;EAW99670;EAW99671;EAW99672;EAW99673;NP_006627;P13995 Hs.469030 1335152;1681086;1685534;1686380;1772617;2107421 D14S71;G07090;MTHFD2__7303;RH47176;RH70261;SHGC-168 NMDMC NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase;OTTHUMP00000160246;OTTHUMP00000203020;bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial APPROVED protein-coding 7434 05351 604887 REVIEWED 1315743 MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 15 15 q25.1 77924373 77976425 - 80135889 80189627 - 1580863;6480464;6907045 8522195;19048631;18830263;18522750;17891500;17119116;16189514;15489334;14702039;12764149;12477932;3801490;20570913;20634891;18029348;19161160;19738041;19936946;20877624;20967262;21895484;20972266;22053931;22505724 10588 H3BMB9;H3BN04;P49914 ABBA01060616;AC015871;AC021483;AK054972;AL109717;AL110101;AMYH01006846;BC012417;BC019921;BC037852;BM313547;BM450865;CB995322;CH471136;CK905549;DB464304;L38928;NG_029243;NM_001199758;NM_006441;NR_037654 AAC41945;AAH12417;AAH19921;EAW99132;NP_001186687;NP_006432;P49914 Hs.194294;Hs.459049 1650678;1662627;1673189;1850702;5018023 MTHFS_(-475A>C);RH17648;RH77833;RH78912;WI-20294 FLJ30410;HsT19268 5,10-methenyl-tetrahydrofolate synthetase;5-formyltetrahydrofolate cyclo-ligase;OTTHUMP00000185568;methenyl-THF synthetase APPROVED protein-coding 7437 09174 604197 REVIEWED 1347555 MTIF2 mitochondrial translational initiation factor 2 During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 55304281 55336881 - 55317260 55349888 - 55463756 55496384 - 1580863;6480464 19209188;17416734;14743216;12932832;12477932;9925935;8889548;8125298;7829522;14968112;18029348;20468071;20877624;20186120;12095986;18051367 4528 B5MCU1;C9JIY5;E7ESE3;E7EW07;H7C213;P46199;Q6P1N2 ABBA01075264;ABBA01075265;AC012358;AF494407;AF495546;AK225184;AK307993;AMYH01010362;BC002667;BC009845;BC017243;BC039848;BC054048;BC064977;BC067352;BC082973;BC143541;BU684812;CB961193;CH471053;L34600;NM_001005369;NM_002453 AAA67038;AAH17243;AAH39848;AAH54048;AAH64977;AAI41421;AAM14617;AAM70196;EAX00103;EAX00104;EAX00105;NP_001005369;NP_002444;P46199 Hs.149894 5015961;5022200;5022578 D15S1477;D1S1423;L18426 IF-2(Mt);IF-2mt;IF2(mt);OTTHUMP00000159692;OTTHUMP00000200773;translation initiation factor IF-2, mitochondrial APPROVED protein-coding ENSG00000085760 7441 04792 603766 REVIEWED 1604201 MTIF3 mitochondrial translational initiation factor 3 This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009] 13 13 q12.2 26907780 26922711 - 28009776 28024739 - 6480464 12095986;19240061;19209188;17267121;14702039;12477932;17207965;20877624;20887776;20976088;15146197;16340009;16341674;17913635;18056078;19239245;20935630;22990118 219402 Q9H2K0 ABBA01035746;AF410851;AK090995;AK094420;AL137059;AMYH01004991;BC039599;BC046166;BG617536;BI460170;BM312841;BM548061;BM768315;CH471075;CN272769;DB456678;DB470026;NM_001166261;NM_001166262;NM_001166263;NM_152912 AAH39599;AAH46166;AAL04150;ADQ33113;EAX08406;EAX08407;EAX08408;EAX08409;EAX08410;EAX08411;EAX08412;NP_001159733;NP_001159734;NP_001159735;NP_690876;Q9H2K0 Hs.534582 1682485;1701252;2136838;2180034 RH104254;RH44696;RH71200;WI-18818 FLJ33676;IF-3mt;IF3(mt);IF3mt IF-3(Mt);OTTHUMP00000018168;OTTHUMP00000018169;translation initiation factor IF-3, mitochondrial APPROVED protein-coding ENSG00000122033 29788 17609 REVIEWED 1320315 MTL5 metallothionein-like 5, testis-specific (tesmin) Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.2-q13.3 65811526 65855203 - 68231484 68275564 - 68474908 68518988 - 1580863;6480464 10191092;16341674;14648882;12606435;12477932;11803038 9633 H3BMB2;Q9Y4I5 ABBA01023985;ABBA01023986;AK074817;AK128308;AK292358;AMYH01003766;AP003096;AP003732;AW293246;BC027593;BC054047;BC064579;BG772890;BM790577;CH471076;NM_001039656;NM_004923;U86074 AAD24668;AAH27593;AAH54047;AAH64579;BAC11228;BAF85047;EAW74718;EAW74719;EAW74720;NP_001034745;NP_004914;Q9Y4I5 Hs.145932 1697160;5022578;5037552 D1S1423;D8S2279;RH102068 CXCDC2;MTLT;TESMIN CXC domain containing 2;OTTHUMP00000237193;OTTHUMP00000237194;OTTHUMP00000237195;tesmin;testis-specific metallothionein-like protein APPROVED protein-coding ENSG00000132749 7446 09186 604374 REVIEWED 733483 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] 1 1 p36.3 11768374 11788702 - 11845787 11866160 - 1580579;1580580;1580581;1580590;1580585;1580863;1601421;1535021;2317119;2317120;2317118;4891159;4891145;4891158;4891157;5509914;6480464;6893522;6893453;6893457;6893653;6893690;6893580;6893597;6893654;6893451;6893477;6893516;6893663;6893455;6893469;6893524;6893467;6893475;6893633;6893521;6893517;6893689;6893474;6893515;6893523;6893632;6893579;6893584;6893634;6893548;6893525;6893602;6893635;6893652;6893655;6893657;6893664;6893576;6893659;6893468;6893476;6893466;6893546;6893636;6893631;6907045;7240710;7242557;7242426;7242562;7242561;7244284 15648053;15834927;15226189;10929044;12187094;10679944;11933257;17201138;16737574;18843018;17491230;20456312;17533396;19764075;15748240;19520684;12387655;22126575;19996639;7990714;17627246;17311259;18098291;21046286;20146887;22213190;10791559;21613384;14737040;15652605;19448163;19837268;17712558;9836532;21489764;20433440;19520069;20039875;17899317;17398378;19159907;19272686;9040583;22707612;19005482;18774994;10792297;16828193;21865946;18280442;16274479;22111818;21186995;16172608;19346876;18551038;22554825;22108709;20814827;22353665;22332074;23595572 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4524 P42898;Q59GJ6;Q5SNW5;Q5SNW6;Q5SNW7;Q8IU67 AB209113;ABBA01003060;AF105977;AF105978;AF105979;AF105980;AF105981;AF105982;AF105983;AF105984;AF105985;AF105986;AF105987;AF398930;AJ237672;AJ249275;AK312907;AL021155;AL953897;AMYH01000258;AY046560;AY046561;AY046562;AY046563;AY046564;AY046565;AY338232;BC011614;BC018766;BC053509;CH471130;CN355286;NG_013351;NM_005957 AAA74440;AAD17965;AAH53509;AAL17646;AAL17647;AAL17648;AAL17649;AAL17650;AAL17651;AAN40863;AAN40864;AAN40865;AAP88033;BAD92350;BAG35753;CAB41971;CAB81551;CAB81552;EAW71708;EAW71709;NP_005948;P42898 Hs.214142;Hs.737916 1788534;1788536;1788538;1788540;1788542;1788544;1788546;1791456;1794430;2116950;2127767;2173222;2185137;5015619;5019731;5022578 A009L06;AL009629;D11S3114;D1S1423;G32638;G67545;G67546;G67547;G67548;G67549;G67550;G67551;PMC110766P1;PMC31169P1;RH63770;SHGC-74205 5,10-methylenetetrahydrofolate reductase (NADPH);OTTHUMP00000002367;OTTHUMP00000002368;OTTHUMP00000002373;methylenetetrahydrofolate reductase APPROVED protein-coding ENSG00000177000 7436 06158 181500;188050;236250;601634;607093 REVIEWED 1315259 MTMR1 myotubularin related protein 1 This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X q28 150109440 150181123 + 149612527 149684233 + 149861869 149933575 + 1580863;6480464;6907045 12477932;9828128;14702039;12217958;11846405;11733541;11275328;9847074;9736772;8640223;20685272;12925573;21890473;21906983;22797925 8776 B7Z3D5;E9PIH9;E9PPP8;F6X5S1;F8W764;F8W8S8;F8WA39;H0YDX3;H7BZJ1;H7C406;Q13613;Q8NEC6 ABBA01037152;ABBA01037153;ABBA01037154;ABBA01037155;AF002223;AF057354;AJ224979;AK001816;AK023451;AK024745;AK055513;AK226109;AK295738;AMYH01023216;BC011250;BC032947;CH471169;NG_012551;NM_003828;U58032 AAC79117;AAD40368;AAH32947;BAG50981;BAH12171;CAA12271;EAW99381;EAW99382;EAW99383;EAW99384;EAW99385;EAW99386;EAW99387;EAW99388;NP_003819;Q13613 Hs.347187 1654926;1679375;1702090;1847770;2129461;2156988 A005E38;DXS1281;DXS7026E;DXS7445E;RH68511;RH98480 OTTHUMP00000025855;OTTHUMP00000025856;OTTHUMP00000025864;OTTHUMP00000233786;myotubularin-related protein 1 APPROVED protein-coding ENSG00000063601 7449 02163 300171 REVIEWED 1606536 MTMR10 myotubularin related protein 10 15 15 15 q13.3 8956604 9009268 - 29018436 29071099 - 31231144 31283807 - 6480464 16381901;15489336;15231748;12495846;12477932;11230166;11076863;23000965;23505323 54893 B4DLB6;H3BQP4;H3BQR5;H3BUS9;H3BUZ0;Q9NXD2 AA461184;ABBA01038322;AC087481;AC090829;AK000320;AK296926;AK303672;AL598227;AL832137;AL832603;AMYH01006503;BC050478;BC063296;BC094750;BC121171;BC121172;CH471216;NM_017762 AAI21172;AAI21173;AAI66657;BAA91083;BAG59478;BAG64669;CAL37747;EAW61258;EAW61259;NP_060232;Q9NXD2 Hs.30141 1335361;1654024;1663427;1686632;1693640;1694464;1722085;1851763;2161106;7187783 D15S165;G42953;G60084;NIB2035;RH64897;RH78415;RH80621;SHGC-58554;WI-19599 FLJ20313 myotubularin-related protein 10 protein-coding ENSG00000166912 25999 07895 VALIDATED 1312103 MTM1 myotubularin 1 This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008] X X q28 149487727 149592272 + 149737047 149841616 + 1600519;1580863;6480464;7240710 8640223 15489334;22068590;22101172;9828128;19084976;18029348;17827085;17621527;17537630;16964243;15883335;15725586;14722070;14660569;12925573;12859411;12847286;12646134;12522554;12495846;12477932;12118066;12031625;11793470;11552027;11001925;10900271;10790201;10502779;10466421;10063835;9829274;9781038;9736772;9537414;9450905;9305655;9285787;1822801;1090027;20358311;19129059;20477815;20562859;11456308;11846405;12391329;14500759;18429927;18774718;19846786;20140253;20434914;21135508;20301605;20500434;21478156;12217958;21488203;21139048;23000965 4534 B7Z491;B7Z499;C9J2A2;F5H1N3;Q13496 ABBA01037129;ABBA01037130;ABBA01037131;ABBA01037132;ABBA01037133;ABBA01037134;ABBA01037135;ABBA01037136;ABBA01037137;ABBA01037138;ABBA01037139;ABBA01037140;ABBA01037141;ABBA01037142;ABBA01037143;AC109994;AC136957;AF002223;AF020676;AK291710;AK297021;AK297057;AK304036;AL832715;AMYH01023214;AMYH01023215;BC030779;BQ002481;CH471169;DC418907;NG_008199;NM_000252;U46024 AAC12865;AAC51682;AAH30779;ADZ15544;BAF84399;BAH12477;BAH12485;BAH14097;EAW99377;EAW99378;EAW99379;EAW99380;NP_000243;Q13496 Hs.655056 1702578;1775183;1851095;2164094;2175586;2184796 DXS1345;DXS8150;RH17874;SHGC-34459;WI-10395;WI-15352 CNM;MTMX;XLMTM OTTHUMP00000025853;myotubularin APPROVED protein-coding ENSG00000171100 7448 02331 300415;310400 REVIEWED 1605703 MTMR11 myotubularin related protein 11 1 1 1 q12-q21 123016513 123024761 - 148167168 148174867 - 149900543 149908791 - 6480464 18391951;16344560;14702039;12495846;12477932;15231748 10903 Q99752 ABBA01049314;AC239868;AC244033;AK097000;AK296094;AK298775;AK304691;AK304820;AL590487;AMYH01001373;BC032655;BC064372;BC094756;BC100818;BC100819;BC100820;BC100821;BQ446006;CH471121;DA492093;DB474756;NM_001145862;NM_181873;U78556;U78557 A4FU01;AAB36952;AAB36953;AAH94756;AAI00819;AAI00820;AAI00821;AAI66616;BAG53406;BAG58848;BAG60917;BAG65462;BAG65568;CAI12649;EAW53588;EAW53589;EAW53590;EAW53591;EAW53592;EAW53593;EAW53594;NP_001139334;NP_870988 Hs.425144 1653363;2131429;2218430;5021676 CRA_4632;RH36569;WI-15828;ksks110 CRA;RP11-212K13.1 OTTHUMP00000014063;cisplatin resistance associated;cisplatin resistance-associated protein;hCRA;myotubularin-related protein 11 protein-coding ENSG00000014914 24307 16748 VALIDATED 1317364 MTMR12 myotubularin related protein 12 Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 5 5 5 p13.3 32108592 32194879 - 32262868 32348871 - 32227111 32313114 - 6480464 14702039;12847286;12495846;12477932;11504939;11214970;21451436;20379614;21139048;21890473;21906983 54545 D6RE76;D6RHK0;Q9C0I1 AB051469;ABBA01066733;ABBA01066734;ABBA01066735;ABBA01066736;ABBA01066737;AC025181;AC091961;AF085901;AK000483;AK000967;AL833231;AMYH01014997;AY028703;BC057393;CH471118;DB462159;NM_001040446 AAH57393;AAK26171;BAA91195;BAB21773;CAH10604;EAX10786;EAX10787;NP_001035536;Q9C0I1 Hs.481836 1676790;1684284;1714049;1727423;1765031;1779956;2110983;2117759;2151882;5019747 1122;D5S562E;G32701;G62969;RH119456;RH26387;RH48207;RH67393;SHGC-148577;SHGC-154201 3-PAP;PIP3AP 3-phosphatase adapter protein;3-phosphatase adapter subunit;OTTHUMP00000220921;OTTHUMP00000220922;OTTHUMP00000220923;myotubularin-related protein 12;phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit;phosphatidylinositol-3 phosphate 3-phosphatase adapter subunit;phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit;phosphatidylinositol-3-phosphate associated protein APPROVED protein-coding ENSG00000150712 18191 05933 606501 REVIEWED 1605051 MTMR14 myotubularin related protein 14 This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010] 3 3 3 p26 9625828 9678788 + 9666144 9719077 + 9691117 9744078 + 6480464;7240710 17008356;16344560;15186772;12477932;11256614;9110174;8619474;14702039;19590496;20379614;20595810;21832049;21139048;21890473;21906983 64419 B4DJ23;B4DQK9;C9JR61;C9JSR1;F8WBT3;F8WCC0;F8WCG0;F8WEA3;Q8WYY9;Q9H6C0 ABBA01020401;AC022382;AC024163;AF289603;AK021608;AK026058;AK074792;AK128312;AK295891;AK298846;AL713695;AMYH01012964;AY007098;AY545552;BC001674;BC025952;BC035690;BC050626;BF796406;CH471055;DA604126;DC316206;DQ630520;NG_017068;NM_001077525;NM_001077526;NM_022485 AAH01674;AAH25952;AAH35690;AAH50626;AAL55787;AAS50151;ABG02221;ACE86886;ACE87573;BAB15340;BAC11211;BAG58685;BAG60971;CAD28494;EAW63965;EAW63966;EAW63967;EAW63968;EAW63969;NP_001070993;NP_001070994;NP_071930;Q8NCE2 Hs.475382 1651713;1656190;5093346 A009L44;G32665;RH12026 C3orf29;FLJ11546;FLJ22405;FLJ46453;FLJ90311;HJUMPY;hEDTP HCV NS5A-transactivated protein 4 splice variant A-binding protein 1;NS5ATP4ABP1;OTTHUMP00000207250;OTTHUMP00000207251;OTTHUMP00000207254;egg-derived tyrosine phosphatase homolog;jumpy;myotubularin-related protein 14 APPROVED protein-coding ENSG00000163719 26190 08654 160150;611089 REVIEWED 1321134 MTMR4 myotubularin related protein 4 17 17 17 q22-q23 53028691 53057049 - 53921897 53950211 - 56566893 56595251 - 1580863;6480464;7242174 19125695 10888877;19329342;15231748;12477932;11302699;9736772;9734811;20736309;20061380;23150675;21940522;19322201 9110 J3KT95;J3QKV8;J3QLB9;J3QR65;J3QRJ2;J3QS98;Q9NYA4 AB014547;ABBA01041337;ABBA01041338;ABBA01041339;AC005666;AF264717;AI538945;AK308877;AMYH01008513;BC035609;CH471109;DR003190;NM_004687 AAF72539;AAH35609;BAA31622;EAW94454;EAW94455;NP_004678;Q9NYA4 Hs.514373 1691740;1695968;1728991;1740027;1773621;2108269;2121331;2126999;2144916;2145864;5127473 A002V09;AA596759;D17S1363E;D17S1780;D17S2030;G06215;G42216;MTMR4_8899;SHGC-78927;STS-H68355;WI-12688 FYVE-DSP2;KIAA0647;ZFYVE11 FYVE domain-containing dual specificity protein phosphatase 2;myotubularin related protein 4;myotubularin-related protein 4;zinc finger FYVE domain-containing protein 11;zinc finger, FYVE domain containing 11 protein-coding ENSG00000108389 7452 11945 603559 VALIDATED 1343929 MTMR3 myotubularin related protein 3 This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q12.2 28609158 28756857 + 30279158 30426857 + 1580863;6480464 10733931;16787938;16344560;15840652;15461802;14702039;11846405;11676921;11302699;11181995;10591208;9847074;9736772;9205841;8889548;8640223;21145461;18774718;18029348;20059746;21102463;12477932;19915574;20477815;21399633;10900271;16751776;21725308;22197929;21988832;23154468;23128233 8897 C9JLU3;G5E953;Q13615 AB002369;ABBA01055286;ABBA01055287;ABBA01055288;ABBA01055289;AC003071;AC003681;AC004819;AF233436;AF233437;AF233438;AK056895;AK289581;AMYH01012705;AW014234;BC142713;BC148216;BC151217;BC152455;BI462128;BU733010;CH471095;CR456525;DA126318;NM_021090;NM_153050;NM_153051;U58034 AAB83949;AAB88872;AAC79119;AAF40203;AAF40204;AAF40205;AAI41655;AAI41657;AAI42714;AAI48217;AAI51218;AAI52456;BAA20826;BAF82270;CAG30411;CAK54556;CAK54855;EAW59849;EAW59850;EAW59851;EAW59852;EAW59853;EAW59854;EAW59855;EAW59856;NP_066576;NP_694690;NP_694691;Q13615 Hs.474536 1674118;1676061;1679736;1680246;1682459;1784534;2138896;2147747;2149879;2158450;2177624;2219950;5113093 D22S973E;MTMR3__6172;RH11219;RH17431;RH27921;RH68755;RH70167;RH80308;RH80876;SHGC-171878;SHGC-37137;WI-19805;WI-19851 FLJ32333;FYVE-DSP1;KIAA0371;ZFYVE10 FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase;FYVE domain-containing dual specificity protein phosphatase 1;OTTHUMP00000199666;OTTHUMP00000199667;OTTHUMP00000199668;OTTHUMP00000199669;myotubularin-related protein 3;zinc finger FYVE domain-containing protein 10;zinc finger, FYVE domain containing 10 APPROVED protein-coding ENSG00000100330 7451 09151 603558 REVIEWED 4110706 MTND1P1 MT-ND1 pseudogene 1 Y Y p11.2 981670 982037 - 8239704 8240071 + 9847074 100499468 AC025731;NG_023506 APPROVED pseudo 38728 INFERRED 1323545 MTMR2 myotubularin related protein 2 This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 q22 95205694 95296920 - 95566044 95657371 - 1580863;6480464;6907045;7240710 20410104;21510942;21741241;12837694;15998640;9736772;17880751;16410353;16344560;15489334;15342556;14690594;12668758;12477932;12398840;11835375;10802647;10470851;8640223;11846405;12925573;17336078;18429927;18774718;19416867;22939629;22863883;21372139;10737800;19322201;20301641;15123239;21963094;20709679 8898 C9JEX3;Q13614 AB028996;ABBA01040009;AI360884;AK027038;AK291277;AK293243;AK302940;AL705005;AMYH01003971;AMYH01003972;AP000870;AP001877;BC012086;BC034474;BC040432;BC052990;BF960838;BG252116;BM475570;BP358035;BX107577;BX647997;CH471065;DA220281;DA831307;DR762520;GD143864;NG_008333;NM_001243571;NM_016156;NM_201278;NM_201281;U58033 AAC79118;AAH52990;BAA83025;BAF83966;BAG56777;BAG64098;EAW66971;EAW66972;EAW66973;EAW66974;NP_001230500;NP_057240;NP_958435;NP_958438;Q13614 Hs.181326 1664192;1714643;1773205;1848077;1856121;2119834 RH119986;RH45560;RH69570;SHGC-32290;SHGC-52606;WI-21645 CMT4B;CMT4B1;KIAA1073 OTTHUMP00000204445;OTTHUMP00000204446;OTTHUMP00000204447;OTTHUMP00000204448;myotubularin-related protein 2 APPROVED protein-coding ENSG00000087053 7450 04650 601382;603557 REVIEWED 6482120 MTND1P11 MT-ND1 pseudogene 11 9 5094100 5095016 + 100873212 ABBA01065417;AL161450;AMYH01019201;NG_032399 pseudo 42060 INFERRED 6483762 MTND1P13 MT-ND1 pseudogene 13 22 24347831 24349491 + 100887745 ABBA01055124;AP000351;NG_032764 pseudo 42096 INFERRED 6482024 MTND1P14 MT-ND1 pseudogene 14 17 19505572 19506518 + 100873337 ABBA01054600;AC025627;AMYH01008235;NG_032400 pseudo 42063 INFERRED 6482027 MTND1P10 MT-ND1 pseudogene 10 22 36574604 36574806 + 100873343 ABBA01055436;AMYH01012749;NG_032414;Z95114 pseudo 42097 INFERRED 1347790 MTMR8 myotubularin related protein 8 This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010] X X X q11.2 63834792 63962167 - 63404686 63532036 - 63487961 63615333 - 1580863;6480464 16189514;12477932;11275328;8125298;16344560;21906983 55613 B4DQL0;H7C2F0;Q96EF0 ABBA01066886;ABBA01066887;ABBA01066888;ABBA01066889;ABBA01066890;ABBA01066891;AK000133;AK225231;AL034408;AL356317;AMYH01022495;BC012399;CH471132;DA691850;NG_016567;NM_017677 AAH12399;BAA90964;EAX05410;EAX05411;EAX05412;EAX05413;NP_060147;Q96EF0 Hs.442892 1703096;1717695 RH121754;sWXD3347 FLJ20126;FLJ60798 OTTHUMP00000023430;OTTHUMP00000023431;myotubularin-related protein 8 APPROVED protein-coding ENSG00000102043 16825 06664 REVIEWED 5133149 MTND1P15 MT-ND1 pseudogene 15 17 p11.2 22024062 22025022 + 100288998 AC131055;AMYH01008270;NG_029089 pseudo 42064 INFERRED 6482122 MTND1P16 MT-ND1 pseudogene 16 3 106619915 106620809 + 100873213 ABBA01061716;AC063927;AMYH01013375;NG_032401 pseudo 42065 INFERRED 6482026 MTND1P17 MT-ND1 pseudogene 17 22 17357108 17357263 - 100873342 ABBA01001462;AC007064;AMYH01012421;NG_032413 pseudo 42095 INFERRED 6482029 MTND1P18 MT-ND1 pseudogene 18 10 37889724 37890296 - 100873338 ABBA01033299;AL121927;AMYH01002259;NG_032402 pseudo 42067 INFERRED 6482127 MTND1P19 MT-ND1 pseudogene 19 4 93623496 93623786 + 100873220 ABBA01063599;AC022317;AMYH01014400;NG_032412 pseudo 42094 INFERRED 1315320 MTMR7 myotubularin related protein 7 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009] 8 8 8 p22 16120349 16236789 - 17199910 17315207 - 17154306 17271040 - 1580863;6480464;6907045 12477932;11275328;9736772;18029348;12925573;12890864;14702039;20379614;22137330 9108 B4E1E5;B7Z9Q7;B7ZAG8;E5RK11;Q9Y216 ABBA01021584;ABBA01021585;AC124074;AF073482;AK123201;AK294468;AK303762;AK303803;AK316022;AK316283;AMYH01018545;AW014721;BC130577;BC130579;CH471080;CR749240;DC325464;NM_004686 AAC77820;AAI30578;AAI30580;ADR83108;ADR83245;BAG57698;BAG64728;BAG64757;BAH14393;BAH14654;CAH18096;EAW63816;NP_004677;Q9Y216 Hs.625674 1750271;2132101;2172680;2219952 A008M23;D8S1687;MTMR7__6173;SHGC-112498 DKFZp781E194;MGC163449;MGC163451 OTTHUMP00000224794;OTTHUMP00000224795;myotubularin-related protein 7 APPROVED protein-coding 7454 16027 603562 REVIEWED 6482030 MTND1P21 MT-ND1 pseudogene 21 10 21093210 21093509 + 100873340 ABBA01034506;AL157398;AMYH01002167;NG_032404 pseudo 42070 INFERRED 6482025 MTND1P20 MT-ND1 pseudogene 20 10 71355243 71356192 - 100873339 ABBA01019610;AL450311;AMYH01002807;NG_032403 pseudo 42069 INFERRED 5133151 MTND1P22 MT-ND1 pseudogene 22 4 4 q32.1 153715529 153716479 - 156384025 156384975 - 9847074 100287591 ABBA01070169;AC097526;AMYH01014635;NG_029085 pseudo 42093 INFERRED 6483999 MTND1P23 MT-ND1 pseudogene 23 1 564442 564820 + 100887749 ABBA01003011;AC114498;AMYH01000071;NG_032769 pseudo 42092 INFERRED 6482160 MTND1P2 MT-ND1 pseudogene 2 7 63572133 63572950 - 100873170 ABBA01027970;AC115220;AMYH01017427;NG_032397 pseudo 42051 INFERRED 5133147 MTND1P25 MT-ND1 pseudogene 25 1 q43 238106002 238106941 - 100288950 ABBA01033187;AL590396;AMYH01001865;NG_008799;NG_029087 pseudo 42091 INFERRED 6482031 MTND1P24 MT-ND1 pseudogene 24 12 42093196 42094053 - 100873341 ABBA01031390;AC018698;AMYH01004400;NG_032405 pseudo 42073 INFERRED 6482128 MTND1P26 MT-ND1 pseudogene 26 2 132143273 132143996 - 100873214 ABBA01028239;AC073869;AMYH01011101;NG_032406 pseudo 42075 INFERRED 5133152 MTND1P27 MT-ND1 pseudogene 27 2 2 q22.1 134689805 134692343 - 140978132 140979042 - 100288227 ABBA01028106;AC092156;AMYH01011134;NG_029086 pseudo 42076 INFERRED 6482125 MTND1P28 MT-ND1 pseudogene 28 2 117781494 117782440 + 100873215 ABBA01045959;AC012365;AMYH01010981;NG_032407 pseudo 42077 INFERRED 6482129 MTND1P29 MT-ND1 pseudogene 29 2 131029359 131029842 + 100873216 ABBA01017954;AC068137;AMYH01011053;NG_032408 pseudo 42078 INFERRED 5133103 MTND1P30 MT-ND1 pseudogene 30 X X p11.21 59042081 59049208 - 55206804 55207740 - 100507157 ABBA01069557;AL158819;AMYH01022435;NG_029084 pseudo 42079 INFERRED 6482124 MTND1P31 MT-ND1 pseudogene 31 X 62061982 62062975 + 100873217 ABBA01027355;AMYH01022473;BX119964;NG_032409 pseudo 42080 INFERRED 5133150 MTND1P3 MT-ND1 pseudogene 3 7 7 q34 136224943 136225899 - 141503495 141504432 - 12853948 100288984 AACC02000020;ABBA01034110;AC004979;AMYH01017998;CH236950;NG_029083 pseudo 42052 INFERRED 6482123 MTND1P33 MT-ND1 pseudogene 33 X 142520836 142521749 + 100873218 ABBA01066386;AC239395;AL030997;AMYH01023125;NG_032410 pseudo 42082 INFERRED 6482126 MTND1P34 MT-ND1 pseudogene 34 1 47630164 47631544 - 100873219 ABBA01050830;AL135960;AMYH01000593;NG_032411 pseudo 42090 INFERRED 5133119 MTND1P36 MT-ND1 pseudogene 36 11 q22.3 103278169 103279104 - 100506721 ABBA01039927;AMYH01003995;AP003461;NG_029088 pseudo 42086 INFERRED 6482163 MTND1P4 MT-ND1 pseudogene 4 7 57253115 57253908 + 100873171 ABBA01028299;AC099654;AMYH01017334;NG_032398 pseudo 42053 INFERRED 6482166 MTND1P5 MT-ND1 pseudogene 5 8 104097895 104098821 + 100873174 ABBA01037629;AMYH01018944;AP003550;NG_032418 pseudo 42104 INFERRED 5133154 MTND1P8 MT-ND1 pseudogene 8 16 16 p13.3 3626712 3627667 - 3419950 3420905 - 100287461 ABBA01026740;AC025283;AMYH01007093;NG_029090 pseudo 42100 INFERRED 6482133 MTND1P9 MT-ND1 pseudogene 9 20 55932485 55933425 - 100873221 ABBA01052924;AL135939;AMYH01012009;NG_032415 pseudo 42099 INFERRED 6482161 MTND1P7 MT-ND1 pseudogene 7 8 47739739 47740035 - 100873172 ABBA01018439;AC021451;AMYH01018700;NG_032416 pseudo 42102 INFERRED 6482162 MTND1P6 MT-ND1 pseudogene 6 8 32871599 32872543 + 100873173 ABBA01023618;AC090204;AMYH01018631;NG_032417 pseudo 42103 INFERRED 1346939 MTND2P1 MT-ND2 pseudogene 1 21 q22.12 37263524 37264449 - 10830953 387315 ABBA01057375;AF020802;AMYH01012221;NG_011402;NG_027939 APPROVED pseudo 7457 INFERRED 6482147 MTND2P10 MT-ND2 pseudogene 10 8 104099338 104100261 + 100873238 ABBA01037629;AMYH01018944;AP003550;NG_032445 pseudo 42140 INFERRED 6482136 MTND2P11 MT-ND2 pseudogene 11 9 112062496 112063424 + 100873222 ABBA01042766;AL359963;AMYH01021620;NG_032423 pseudo 42112 INFERRED 5684429 MTND1P32 MT-ND1 pseudogene 32 X 102040606 102041532 + 100856881 ABBA01020971;AL590407;AMYH01022792;NG_031905 pseudo 42081 INFERRED 6482032 MTND2P15 MT-ND2 pseudogene 15 10 71353776 71354688 - 100873346 ABBA01019610;AL450311;AMYH01002807;NG_032427 pseudo 42116 INFERRED 6482034 MTND2P13 MT-ND2 pseudogene 13 17 22025225 22026250 + 100873345 AC131055;AMYH01008270;NG_032425 pseudo 42114 INFERRED 6482028 MTND2P12 MT-ND2 pseudogene 12 17 19507158 19508357 + 100873344 ABBA01054600;AC025627;AMYH01008235;NG_032424 pseudo 42113 INFERRED 6482130 MTND2P14 MT-ND2 pseudogene 14 3 106621020 106621370 + 100873223 ABBA01061716;AC063927;AMYH01013375;NG_032426 pseudo 42115 INFERRED 6482036 MTND2P16 MT-ND2 pseudogene 16 10 20036751 20037718 + 100873347 ABBA01034516;AL353147;AMYH01002164;NG_032428 pseudo 42117 INFERRED 6482033 MTND2P17 MT-ND2 pseudogene 17 12 42092297 42092984 - 100873348 ABBA01031390;AC018698;AMYH01004400;NG_032429 pseudo 42118 INFERRED 6482135 MTND2P18 MT-ND2 pseudogene 18 2 132142034 132143063 - 100873224 ABBA01028239;AC073869;AMYH01011101;NG_032430 pseudo 42119 INFERRED 6482131 MTND2P19 MT-ND2 pseudogene 19 2 140977213 140977937 - 100873225 ABBA01028106;AC092156;AMYH01011134;NG_032431 pseudo 42120 INFERRED 1349959 MTND2P2 MT-ND2 pseudogene 2 X X X q22.1 102480778 102482352 + 101928297 101930071 + 102041742 102043316 + 56168 ABBA01020971;AL590407;AMYH01022792;NG_002320 2177756 A008Q11 bA522L3.2 nadh dehydrogenase 2 pseudogene 2 APPROVED pseudo 23767 INFERRED 6482132 MTND2P20 MT-ND2 pseudogene 20 2 156120675 156121335 - 100873226 ABBA01004822;AC092662;AMYH01011186;NG_032432 pseudo 42121 INFERRED 6482134 MTND2P21 MT-ND2 pseudogene 21 2 117782650 117783688 + 100873227 ABBA01045959;AC012365;AMYH01010981;NG_032433 pseudo 42122 INFERRED 6482142 MTND2P22 MT-ND2 pseudogene 22 2 131030052 131031081 + 100873228 ABBA01017954;AC068137;AMYH01011053;NG_032434 pseudo 42123 INFERRED 6482138 MTND2P23 MT-ND2 pseudogene 23 2 212641931 212642581 + 100873229 ABBA01062753;AC105921;AMYH01011471;NG_032435 pseudo 42124 INFERRED 6482137 MTND2P24 MT-ND2 pseudogene 24 X 55205565 55206596 - 100873230 ABBA01069558;AL158819;AMYH01022435;NG_032436 pseudo 42125 INFERRED 6482140 MTND2P25 MT-ND2 pseudogene 25 X 62063196 62063740 + 100873231 ABBA01027355;AMYH01022473;BX119964;NG_032437 pseudo 42126 INFERRED 6482143 MTND2P27 MT-ND2 pseudogene 27 1 238104758 238105792 - 100873232 ABBA01033187;AL590396;AMYH01001865;NG_008799;NG_032439 pseudo 42128 INFERRED 6482037 MTND2P26 MT-ND2 pseudogene 26 11 103276947 103277969 - 100873349 ABBA01039927;AMYH01003995;AP003461;NG_032438 pseudo 42127 INFERRED 6484045 MTND2P28 MT-ND2 pseudogene 28 1 565020 566066 + 100652939 ABBA01003011;AC114498;AMYH01000071;NG_032768 pseudo 42129 INFERRED 6482141 MTND2P29 MT-ND2 pseudogene 29 1 50482758 50483176 + 100873233 ABBA01050789;AL645730;AMYH01000603;NG_032440 pseudo 42130 INFERRED 6482139 MTND2P30 MT-ND2 pseudogene 30 1 81546463 81546861 + 100873234 ABBA01074356;AL592524;AMYH01000739;NG_032441 pseudo 42131 INFERRED 6482144 MTND2P31 MT-ND2 pseudogene 31 4 14507488 14508103 - 100873235 ABBA01032550;AC093846;AMYH01014012;NG_032442 pseudo 42132 INFERRED 6482146 MTND2P32 MT-ND2 pseudogene 32 8 32872787 32874561 + 100873237 ABBA01023618;AC090204;AMYH01018631;NG_032444 pseudo 42139 INFERRED 6482149 MTND2P33 MT-ND2 pseudogene 33 4 156382791 156383818 - 100873236 ABBA01070168;AC097526;AMYH01014635;NG_032443 pseudo 42134 INFERRED 4110017 MTND2P3 MT-ND2 pseudogene 3 Y Y p11.2 980990 981459 - 8240282 8240751 + 9847074 100499457 AC025731;NG_023505 APPROVED pseudo 38727 INFERRED 6482164 MTND2P4 MT-ND2 pseudogene 4 7 63570925 63571928 - 100873175 ABBA01027970;AC115220;AMYH01017427;NG_032419 pseudo 42105 INFERRED 6482165 MTND2P5 MT-ND2 pseudogene 5 7 141502270 141503287 - 100873176 AACC02000020;ABBA01034110;AC004979;AMYH01017998;CH236950;NG_032420 pseudo 42106 INFERRED 6482167 MTND2P6 MT-ND2 pseudogene 6 7 57254121 57255155 + 100873177 ABBA01028299;AC099654;AMYH01017334;NG_032421 pseudo 42107 INFERRED 6482170 MTND2P7 MT-ND2 pseudogene 7 8 134766982 134767692 + 100873179 ABBA01014195;AC090821;AMYH01019038;NG_032446 pseudo 42141 INFERRED 6482171 MTND2P8 MT-ND2 pseudogene 8 9 81356638 81357660 - 100873178 ABBA01033950;AL592047;AMYH01021435;NG_032422 pseudo 42109 INFERRED 6482145 MTND3P10 MT-ND3 pseudogene 10 2 120970523 120970851 + 100873239 ABBA01045917;AC012363;AMYH01010990;NG_032452 pseudo 42150 INFERRED 6482116 MTND3P1 MT-ND3 pseudogene 1 13 22687258 22687477 - 100873208 ABBA01068615;AL136962;AMYH01004965;NG_032362 pseudo 39856 INFERRED 6482168 MTND3P2 MT-ND3 pseudogene 2 7 63566032 63566373 - 100873180 ABBA01027970;AC115220;AMYH01017427;NG_032447 pseudo 42142 INFERRED 1313370 MTMR6 myotubularin related protein 6 13 13 13 q12 6884597 6925963 - 24718339 24759704 - 25820339 25861704 - 1580863;6480464;6907045 15831468;9736772;11256614;19038970;17081983;16847315;16381901;15489336;15489334;15057823;14702039;12890864;12847286;12646134;12477932;11230166;11076863;23188820;21139048;21890473;21906983;19322201;22505724;22797925 9107 Q9Y217 ABBA01007900;AF072928;AF406619;AK025507;AK093237;AK094082;AK314587;AL044815;AL590787;AL832017;AMYH01004978;BC031834;BC035436;BC040012;BU177677;CH471075;NM_004685;U47635 AAB18856;AAC78841;AAH31834;AAH40012;AAL01037;BAG37162;CAD89918;CAL37559;CAL37715;EAX08367;NP_004676;Q9Y217 Hs.643702 1667086;1736318;1853925;2165286 A007G03;D13S1453;D13S824E;RH11246 OTTHUMP00000018145;myotubularin-related protein 6 protein-coding ENSG00000139505 7453 11946 603561 VALIDATED 6482172 MTND3P6 MT-ND3 pseudogene 6 3 106615324 106615659 - 100873182 ABBA01061716;AC063927;AMYH01013375;NG_032449 pseudo 42146 INFERRED 6482169 MTND3P4 MT-ND3 pseudogene 4 9 104555739 104556017 - 100873181 ABBA01042870;AL133413;AMYH01021580;NG_032448 pseudo 42144 INFERRED 6482635 MTND2P9 MT-ND2 pseudogene 9 9 q21.31 83179950 83180881 - 100884155 ABBA01033962;AL160267;AMYH01021439;NG_032653 pseudo 42110 INFERRED 6482175 MTND3P7 MT-ND3 pseudogene 7 3 165878561 165878902 - 100873183 ABBA01058741;AC104629;AMYH01013633;NG_032450 pseudo 42147 INFERRED 6482097 MTND3P8 MT-ND3 pseudogene 8 1 235705057 235705392 - 100873185 ABBA01033139;AL672238;AMYH01001848;NG_032453 pseudo 42153 INFERRED 6482119 MTND4P1 MT-ND4 pseudogene 1 13 85094365 85095654 + 100873211 ABBA01021747;AL445195;AMYH01005248;NG_032393 pseudo 42035 INFERRED 6482052 MTND4P10 MT-ND4 pseudogene 10 1 235703345 235704716 - 100873256 ABBA01033138;ABBA01033139;AL672238;AMYH01001848;NG_032481 pseudo 42225 INFERRED 6482092 MTND3P9 MT-ND3 pseudogene 9 2 143856053 143856388 - 100873184 ABBA01028072;AC013437;AMYH01011144;NG_032451 pseudo 42149 INFERRED 6482096 MTND3P5 MT-ND3 pseudogene 5 4 25721721 25722053 - 100873186 ABBA01032706;AC092436;AMYH01014068;NG_032454 pseudo 42154 INFERRED 6482095 MTND3P3 MT-ND3 pseudogene 3 4 156377924 156378259 - 100873187 ABBA01070168;AC097526;AMYH01014635;NG_032455 pseudo 42155 INFERRED 6482051 MTND4P11 MT-ND4 pseudogene 11 1 94388131 94389113 - 100873255 ABBA01045517;AL117351;AMYH01000805;NG_032480 pseudo 42223 INFERRED 5133610 MTND4P12 MT-ND4 pseudogene 12 5 q31.1 134262351 134263726 - 100293090 ABBA01068732;AC008670;AMYH01015626;NG_029205 1773308 A007G12 pseudo 42199 INFERRED 6480187 MTND4P13 MT-ND4 pseudogene 13 6 q25.2 153990014 153990961 + 100862853 ABBA01025606;AL603908;AMYH01016752;NG_032145 pseudo 42222 INFERRED 6482150 MTND4P16 MT-ND4 pseudogene 16 3 106613198 106614565 - 100873241 ABBA01061716;AC063927;AMYH01013375;NG_032463 pseudo 42203 INFERRED 5488828 MTND4P14 MT-ND4 pseudogene 14 9 p24.1 5107937 5109290 + 100653489 ABBA01065417;AL161450;AMYH01019201;NG_029701 pseudo 42201 INFERRED 6482151 MTND4P15 MT-ND4 pseudogene 15 9 94873147 94874114 + 100873240 ABBA01018582;AL354751;AMYH01021508;NG_032462 pseudo 42202 INFERRED 6482148 MTND4P17 MT-ND4 pseudogene 17 3 165877802 165877963 - 100873242 ABBA01058741;AC104629;AMYH01013633;NG_032464 pseudo 42204 INFERRED 6482039 MTND4P18 MT-ND4 pseudogene 18 10 36723619 36724102 - 100873350 ABBA01033323;AL590730;AMYH01002246;NG_032465 pseudo 42205 INFERRED 6482035 MTND4P19 MT-ND4 pseudogene 19 10 96523183 96534385 - 100873351 ABBA01021845;AL583836;AMYH01002966;NG_008384;NG_032466 pseudo 42206 INFERRED 6482099 MTND4P2 MT-ND4 pseudogene 2 7 63564471 63565673 - 100873188 ABBA01027970;AC115220;AMYH01017427;NG_032457 pseudo 42189 INFERRED 6482041 MTND4P23 MT-ND4 pseudogene 23 2 202078016 202079383 - 100873245 ABBA01062536;AC007283;AMYH01011403;NG_032470 pseudo 42210 INFERRED 6482045 MTND4P22 MT-ND4 pseudogene 22 2 143854331 143855694 - 100873244 ABBA01028072;AC013437;AMYH01011144;NG_032469 pseudo 42209 INFERRED 6482040 MTND4P20 MT-ND4 pseudogene 20 10 96700061 96701252 - 100873352 ABBA01021845;AL359672;AMYH01002966;NG_032467 pseudo 42207 INFERRED 6482043 MTND4P25 MT-ND4 pseudogene 25 2 83042090 83042643 + 100873246 ABBA01075700;AC098817;AMYH01010481;NG_032471 pseudo 42212 INFERRED 6482054 MTND4P24 MT-ND4 pseudogene 24 X 125606868 125607266 + 100873254 AL359973;AMYH01022954;NG_032479 pseudo 42220 INFERRED 6482152 MTND4P21 MT-ND4 pseudogene 21 2 132129882 132131223 - 100873243 ABBA01028239;AC073869;AMYH01011101;NG_032468 pseudo 42208 INFERRED 2303676 MTMR9LP myotubularin related protein 9-like, pseudogene 1 1 1 p35.1 30967432 30977482 - 32469846 32479779 - 32697261 32707311 - 6480464 16344560;14702039;12477932 339483 ABBA01023434;AI927242;AK055560;AK096109;AL121991;AL833686;AMYH01000465;BC016171;BC041632;DB026894;NR_026850 Hs.471067 1680070;2107033;2115908;2121843;2144777;5017506 2STS01;EIF3S2_7926;RH71226;RH98843;SHGC-74136;SHGC-74533 FLJ30998;MTMR9L APPROVED pseudo 27920 14168 VALIDATED 6482044 MTND4P26 MT-ND4 pseudogene 26 2 120971207 120972565 + 100873247 ABBA01045917;AC012363;AMYH01010990;NG_032472 pseudo 42213 INFERRED 6482049 MTND4P27 MT-ND4 pseudogene 27 2 131036309 131037668 + 100873248 ABBA01017954;AC068137;AMYH01011053;NG_032473 pseudo 42214 INFERRED 6482047 MTND4P29 MT-ND4 pseudogene 29 2 202419107 202420756 + 100873250 ABBA01062542;AC007282;AMYH01011403;NG_032475 pseudo 42216 INFERRED 6482048 MTND4P28 MT-ND4 pseudogene 28 2 156167589 156167930 + 100873249 ABBA01004822;AC092662;AMYH01011186;NG_032474 pseudo 42215 INFERRED 6482046 MTND4P30 MT-ND4 pseudogene 30 2 203483320 203483574 + 100873251 ABBA01062580;AC009960;AMYH01011413;NG_032476 pseudo 42217 INFERRED 6482094 MTND4P3 MT-ND4 pseudogene 3 7 67731306 67731849 - 100873189 AACC02000043;ABBA01064091;AC093655;AMYH01017506;CH236952;NG_032458 pseudo 42190 INFERRED 6482050 MTND4P31 MT-ND4 pseudogene 31 X 69347469 69348946 - 100873252 ABBA01067534;AL158141;AMYH01022524;NG_032477 pseudo 42218 INFERRED 6482056 MTND4P32 MT-ND4 pseudogene 32 X 102054894 102056019 + 100873253 ABBA01020972;AL590407;AMYH01022792;NG_032478 pseudo 42219 INFERRED 6482098 MTND4P4 MT-ND4 pseudogene 4 100873190 AC099654 pseudo 42191 6482101 MTND4P5 MT-ND4 pseudogene 5 7 57260402 57261774 + 100873191 ABBA01028300;AC099654;AMYH01017334;NG_032460 pseudo 42192 INFERRED 6482105 MTND4P7 MT-ND4 pseudogene 7 8 13210906 13211117 - 100873195 ABBA01021625;AC019270;AMYH01018529;NG_032484 pseudo 42234 INFERRED 6482104 MTND4P6 MT-ND4 pseudogene 6 7 116903949 116904448 + 100873192 AACC02000001;ABBA01057801;AC006326;AMYH01017885;CH236947;NG_032461 pseudo 42193 INFERRED 6482103 MTND4P8 MT-ND4 pseudogene 8 4 156376199 156377563 - 100873194 ABBA01070168;AC097526;AMYH01014635;NG_032483 pseudo 42227 INFERRED 6482100 MTND4P9 MT-ND4 pseudogene 9 4 25719704 25721367 - 100873193 ABBA01032706;AC092436;AMYH01014068;NG_032482 pseudo 42226 INFERRED 6482114 MTND5P1 MT-ND5 pseudogene 1 21 45893621 45894956 - 100873206 ABBA01074169;AMYH01012294;AP001065;NG_032335 pseudo 39644 INFERRED 5133628 MTND5P10 MT-ND5 pseudogene 10 5 5 q21.1 99410577 99412382 - 99382678 99384489 - 643031 ABBA01069177;AC113407;AMYH01015501;NG_027711 5023543;5094680;5094684 PMC55343P10;PMC55343P12;PMC55343P9 pseudo 42272 INFERRED 5133593 MTND5P11 MT-ND5 pseudogene 11 5 q31.1 134260338 134262149 - 100506169 ABBA01068732;AC008670;AMYH01015626;NG_029206 5023543;5094680;5094684 PMC55343P10;PMC55343P12;PMC55343P9 pseudo 42273 INFERRED 6482053 MTND5P12 MT-ND5 pseudogene 12 5 93903163 93904642 + 100873257 AC093311;AMYH01015486;NG_032488 pseudo 42274 INFERRED 6482069 MTND5P13 MT-ND5 pseudogene 13 4 65475152 65476799 - 100873272 ABBA01022865;AC097648;AMYH01014238;NG_032505 pseudo 42304 INFERRED 6482055 MTND5P14 MT-ND5 pseudogene 14 9 5109523 5110754 + 100873258 ABBA01065417;AL161450;AMYH01019201;NG_032489 pseudo 42276 INFERRED 6482061 MTND5P15 MT-ND5 pseudogene 15 3 176728207 176728834 - 100873259 ABBA01058592;AC023235;AMYH01013671;NG_032490 pseudo 42277 INFERRED 6482038 MTND5P17 MT-ND5 pseudogene 17 10 36721791 36723406 - 100873353 ABBA01033323;AL590730;AMYH01002246;NG_032491 pseudo 42279 INFERRED 6480186 MTND5P16 MT-ND5 pseudogene 16 3 106617736 106619432 + 100862854 ABBA01061716;AC063927;AMYH01013375;NG_032146 pseudo 42278 INFERRED 6482066 MTND5P18 MT-ND5 pseudogene 18 1 238113042 238114803 - 100873271 ABBA01033189;AL590396;AMYH01001865;NG_008799;NG_032504 pseudo 42302 INFERRED 6482071 MTND5P20 MT-ND5 pseudogene 20 1 114119373 114119516 - 100873269 ABBA01068456;AL390759;AMYH01000963;NG_032502 pseudo 42300 INFERRED 6482060 MTND5P22 MT-ND5 pseudogene 22 2 125438290 125438466 - 100873260 ABBA01032281;AC019159;AMYH01011010;NG_032492 pseudo 42284 INFERRED 6482117 MTND5P2 MT-ND5 pseudogene 2 13 96344792 96346226 + 100873209 ABBA01027181;AL138955;AMYH01005306;NG_032375 pseudo 41919 INFERRED 6482042 MTND5P21 MT-ND5 pseudogene 21 11 11261402 11261722 + 100873354 ABBA01061150;AC084243;AMYH01003391;NG_032501 pseudo 42296 INFERRED 6482062 MTND5P23 MT-ND5 pseudogene 23 2 132127887 132129657 - 100873261 ABBA01028239;AC073869;AMYH01011101;NG_032493 pseudo 42285 INFERRED 6482068 MTND5P19 MT-ND5 pseudogene 19 1 235701351 235703112 - 100873270 ABBA01033138;AL672238;AMYH01001848;NG_032503 pseudo 42301 INFERRED 6482058 MTND5P24 MT-ND5 pseudogene 24 2 143852334 143854121 - 100873262 ABBA01028072;ABBA01028073;AC013437;AMYH01011144;NG_032494 pseudo 42286 INFERRED 6482057 MTND5P29 MT-ND5 pseudogene 29 2 131037878 131039652 + 100873265 ABBA01017954;AC068137;AMYH01011053;NG_032497 pseudo 42291 INFERRED 6482065 MTND5P26 MT-ND5 pseudogene 26 X 102059560 102061048 + 100873268 ABBA01020973;AL590407;AMYH01022792;NG_032500 pseudo 42295 INFERRED 5133609 MTND5P28 MT-ND5 pseudogene 28 2 q14.2 120972914 120974788 + 100505755 ABBA01045915;ABBA01045916;AC012363;AMYH01010990;NG_029210 1655306;2120976 D2S2885;RH12252 pseudo 42290 INFERRED 6482118 MTND5P3 MT-ND5 pseudogene 3 13 85095941 85098041 + 100873210 ABBA01021747;AL445195;AMYH01005248;NG_032392 pseudo 42034 INFERRED 6482063 MTND5P25 MT-ND5 pseudogene 25 2 202077019 202077792 - 100873263 ABBA01062536;AC007283;AMYH01011403;NG_032495 pseudo 42287 INFERRED 6482059 MTND5P27 MT-ND5 pseudogene 27 2 83042875 83044652 + 100873264 ABBA01075700;AC098817;AMYH01010481;NG_032496 pseudo 42289 INFERRED 6482064 MTND5P30 MT-ND5 pseudogene 30 2 156168166 156169939 + 100873266 ABBA01004822;AC092662;AMYH01011186;NG_032498 pseudo 42292 INFERRED 6482067 MTND5P31 MT-ND5 pseudogene 31 2 202421679 202422992 + 100873267 ABBA01062542;AC007282;AMYH01011403;NG_032499 pseudo 42293 INFERRED 6482110 MTND5P4 MT-ND5 pseudogene 4 4 17063501 17063788 + 100873200 ABBA01032598;AC110758;AMYH01014033;NG_032507 pseudo 42306 INFERRED 6482109 MTND5P5 MT-ND5 pseudogene 5 4 102893579 102893959 + 100873201 ABBA01063695;AMYH01014428;AP002075;NG_032508 pseudo 42307 INFERRED 6482102 MTND5P6 MT-ND5 pseudogene 6 7 57238700 57240476 + 100873196 ABBA01028298;ABBA01028299;AC099654;AMYH01017334;NG_032485 pseudo 42268 INFERRED 6482108 MTND5P8 MT-ND5 pseudogene 8 7 112012702 112013778 + 100873198 AACC02000002;ABBA01057848;AC004112;AMYH01017861;CH236947;NG_032487 pseudo 42270 INFERRED 6482107 MTND5P7 MT-ND5 pseudogene 7 7 57262031 57263753 + 100873197 AC099654;AMYH01017334;NG_032486 pseudo 42269 INFERRED 6482106 MTND5P9 MT-ND5 pseudogene 9 4 156374206 156375966 - 100873199 ABBA01070168;AC097526;AMYH01014635;NG_032506 pseudo 42305 INFERRED 4110707 MTND6P1 MT-ND6 pseudogene 1 Y Y p11.2 989733 990156 + 8231577 8232000 - 9847074 100499469 ABBA01060227;AC025731;NG_023537 APPROVED pseudo 38730 INFERRED 6482020 MTND6P21 MT-ND6 pseudogene 21 21 45892778 45893622 + 100873332 ABBA01074169;AMYH01012294;AP001065;NG_032332 pseudo 39639 INFERRED 1343060 MTOLR mitochondrially encoded light strand origin of replication 4546 7466 1348078 MTOHR mitochondrially encoded heavy strand origin of replication 4545 7465 6481400 MTOR-AS1 MTOR antisense RNA 1 1 11203955 11209595 + 11329013 100873935 ABBA01003044;AL391561;AMYH01000252;BG198268;NG_033239;NR_046600 Hs.679133 APPROVED miscrna ENSG00000225602 40242 VALIDATED 735915 MTMR9 myotubularin related protein 9 This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008] 8 8 8 p23-p22 10270023 10313681 + 11179410 11223065 + 11142000 11185655 + 1580863;6480464 21145461;19038970;17855449;16189514;15489334;14702039;12890864;12477932;11896452;11472061;10458905;9110174;8619474;8125298;19447967;21060863;20712903;21796137;21139048;19322201;22505724 66036 B7Z291;E9PR67;Q96QG7 ABBA01026881;ABBA01026882;AF052099;AF131216;AJ297823;AJ297824;AK000444;AK022071;AK223525;AK294463;AK303543;AL080178;AMYH01018480;BC017985;BC022003;BC034990;BC093788;BC101623;BU631532;BX538176;CH471157;NM_015458 AAH22003;AAH34990;AAH93788;AAI01624;ABM84895;ABW03647;BAA91170;BAD97245;BAG64569;BAH11777;CAB45763;CAC51114;CAC51115;EAW65607;EAW65608;EAW65609;NP_056273;Q96QG7 Hs.591395 1654736;1669169;1686634;1687155;2158432;2160841;2162601;5022200;5022578;5022651;5109362 D11S2921;D17S1239;D1S1423;D8S1593;L18426;RH47610;RH94325;RH98511;SHGC-24302;SHGC-53404;SHGC-57848 C8orf9;DKFZp434K171;LIP-STYX;MGC126672;MTMR8 OTTHUMP00000115806;OTTHUMP00000229484;myotubularin related protein 8;myotubularin-related protein 9 APPROVED protein-coding ENSG00000104643 14596 09377 606260 REVIEWED 1322070 MTPAP mitochondrial poly(A) polymerase The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011] 10 10 p11.23 30641765 30678254 - 30598730 30638267 - 737633;6480464;7240710 12477932 19204726;18984674;17509149;16344560;15769737;15547249;15489334;15164054;14702039;12239557;8125298;21292163;16385451;16810331;18172165;20379614;20970105;20877624;18029348;20360068;21903422;21139048;21906983;19322201 55149 Q5T851;Q5T852;Q9NVV4 AB194709;ABBA01034348;ABBA01034349;ABBA01034350;AK001348;AK022188;AK125211;AL161651;AL353796;AMYH01002216;AMYH01002217;AY364242;BC061703;CH471072;DA086747;NG_028096;NM_018109 AAH61703;AAQ76801;BAA91641;BAB13981;BAD98252;EAW86014;EAW86015;NP_060579;Q9NVV4 Hs.173946 1676972;2119960;2139434;2154856;2157323;2219450;5014051;5015861;5017170;5020946;5024039;5024413;5037552;5109281;7185938 D10S16;D16S325;D1S1425;D8S2278;D8S2279;L17877;L17971;L29953;PAPD1__5824;RH44699;RH93834;SHGC-56580;STS-R05306;STS-T71331 FLJ10486;PAPD1;RP11-305E6.3;SPAX4 OTTHUMP00000019397;PAP associated domain containing 1;PAP-associated domain-containing protein 1;TUTase 1;poly(A) RNA polymerase, mitochondrial;polynucleotide adenylyltransferase;terminal uridylyltransferase 1 APPROVED protein-coding 25532 15097 613669;613672 REVIEWED 736711 MTNR1B melatonin receptor 1B This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008] 11 11 q21-q22 92342437 92355596 + 92702789 92715948 + 1580863;6480464;7240710 7568007;19502414;19324940;19324937;19241057;19184136;19088850;19060910;19060909;19060908;19060907;19001515;18544139;18363673;18341518;18001530;17632395;17316165;17108395;16098099;15913560;15489334;15266022;12767050;12477932;12088876;11940583;11606436;10696804;10612428;8988899;8647286;21308753;21515849;21228692;16778767;17215244;19455304;19533084;19651812;19741166;19808892;19833888;19933996;19937311;20050988;20081858;20110911;20185807;20200315;20207350;20377855;20398260;20490451;20536959;20733416;18577758;20597807;20581827;21470412;20628598;20657642;20668700;20726823;20802253;20712903;20858683;20879858;20889853;20959387;21036910;21059861;22759724;21366812;21380592;21658282;21353709;21701235;21909109;22233651;22286219;22399527;23226241;22508271;22096510;22286214;22450346;22581228;22138747;22754043;21809392;22698518;21558052;23251661;22017484;22768333;22686298 4544 E9PR36;H0YDG4;P49286 AB033598;ABBA01040054;AF467654;AMYH01003947;AP002371;AP003171;AY521019;BC069163;CH471065;NG_028160;NM_005959;U25341 AAC50612;AAH69163;AAL75503;AAS00461;BAA92315;EAW66891;NP_005950;P49286 Hs.569039 2129586;2218570 MTNR1B_4132;RH18021 FGQTL2;MEL-1B-R;MT2 OTTHUMP00000235800;mel1b receptor;melatonin receptor MEL1B;melatonin receptor type 1B APPROVED protein-coding ENSG00000134640 7464 02882 125853;600804 REVIEWED 1352571 MTNR1A melatonin receptor 1A This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [provided by RefSeq, Jul 2008] 4 4 q35.1 187691803 187713531 - 187454809 187476537 - 1580863;6480464 9645677;7946354;8700109;19184136;19001515;18794763;18452558;18378672;18341518;18067741;17803522;17645699;17349020;17072839;16098099;15489334;15266022;14675129;12973153;12767050;12477932;12088876;11940583;11897804;11841602;11606436;11448873;10612428;10598579;10471411;8988899;7558006;1144527;20372918;16778767;17215244;18979234;20050373;20110911;20377855;21497337;18577758;2834384;19913121;20628086;20657642;20726823;21552555;21818375;21994366;10531408;21526376;21474908;22217986;22138747;21615493;21635358;21652546;21809392;23250547;23155241;22017484;22686298 4543 H0Y8X5;P48039 AB029933;ABBA01070563;ABBA01070564;ABBA01070565;AC110761;AF085498;AF435588;AMYH01014783;BC074946;BC074947;BC113816;BC126297;BC126299;CH471056;EU432127;NM_005958;U14108 AAB17720;AAH74946;AAH74947;AAI13817;AAI26298;AAI26300;AAL30809;ABY87926;ADR83132;BAA85303;EAX04617;NP_005949;P48039 Hs.243467 1649853;1796368;2145082;5492361 D4S2827;MARC_9493-9494:997213710:1;MTNR1A__1188;SHGC-50590 MEL-1A-R;MT1 OTTHUMP00000218000;mel1a receptor;melatonin receptor type 1A APPROVED protein-coding ENSG00000168412 7463 02812 600665 REVIEWED 1318828 MTO1 mitochondrial tRNA translation optimization 1 This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q13 74565658 74605390 + 74228209 74267896 + 74171454 74211179 + 6480464 19338775;19209188;18391568;15901843;15542390;15509579;15489334;14574404;12939650;12477932;12011058;10810093;8125298;20877624;21890473;21906983;22608499;21963094;22505724 25821 E5RFF7;E7EWI1;E7EWX0;E9PHR8;H0YB81;H0YBI9;H0YC00;H7C2S9;Q9BS06 ABBA01040319;ABBA01040320;ABBA01040321;ABBA01040322;ABBA01040323;ABBA01040324;ABBA01040325;AF132937;AF319422;AF442963;AF469110;AF469111;AJ420530;AK026073;AK074625;AK225828;AL603910;AL833823;AMYH01016425;AY078985;AY078986;AY947716;BC005808;BC011051;BE501391;CH471051;CQ783513;DN993156;NG_032856;NM_001123226;NM_012123;NM_133645 AAD27712;AAG42814;AAH05808;AAH11051;AAL35894;AAL82394;AAL82395;AAL85490;AAL85491;AAY51628;BAG51977;CAD38685;CAF86693;EAW48760;EAW48761;EAW48762;EAW48763;EAW48764;EAW48765;EAW48766;EAW48767;EAW48768;NP_001116698;NP_036255;NP_598400;Q9Y2Z2 Hs.347614 1802386;1806658;1809800;1810954;1817026;1827836;1829732;1832182;1834510;1834584;1835280;1835322;1835658;1836374;1837536;1839276;1839626;1839680;1844264;1845124;1845242;1845762;1846378;1924132;1924134;1924136;1924138;1924140;1924142;1924144;1924146;1924148;1924150;1924152;1924154;1924156;1924158;1924160;1924162;1924164;1924166;1924168;1924170;1924172;1924174;1924176;1924178;1924180;1924182;1924184;1924186;1924188;1924190;1924192;1924194;1924196;1924198;1924200;1924202;1924204;1924206;1924208;1924210;1924212;1924214;1924216;1924218;1924220;1924222;1924224;1924226;1924228;1924230;1924232;1924234;1924236;1924238;1924240;1924242;1924244;1924246;1924248;1924250;1924252;1924254;1924256;1924258;1924260;1924262;1924264;1924266;1924268;1924270;1924272;1924274;1924276;1924278;1924280;1924282;1924284;1924286;1924288;1924290;1924292;1924294;1924296;1924298;1924300;1924302;1924304;1924306;1924308;1924310;1924312;1924314;1924316;1924318;1924320;1924322;1924324;1924326;1924328;1924330;1924332;1924334;1924336;1924338;1924340;1924342;1924344;1924346;1924348;1924350;1924352;1924354;1924356;1924358;1924360;1924362;1924364;1924366;1924368;1924370;1924372;1924374;1924376;1924378;1924380;1924382;1924384;1924386;1924388;1924390;1924392;1924394;1924396;1924398;1924400;1924402;1924404;1924406;1924408;1924410;1924412;1924414;1924416;1924418;1924420;1924422;1924424;1924426;1924428;1924430;1924432;2110583;2169862;2207362;2207364;2207366;2207368;2207370;2207372;2207374;2207376;2207378;2207380;2207382;2207384;2207386;2207388;2207390;2207392;2207394;2207396;2207398;2207400;2207402;2207404;2207406;2207408;2207410;2207412 ECD02078;ECD04286;ECD05892;ECD06475;ECD09562;ECD15041;ECD15998;ECD17229;ECD18403;ECD18440;ECD18795;ECD18816;ECD18986;ECD19349;ECD19935;ECD20818;ECD20996;ECD21023;ECD23346;ECD23779;ECD23838;ECD24100;ECD24409;MTO1__6176.2;REN32891;REN32892;REN32893;REN32894;REN32895;REN32896;REN32897;REN32898;REN32899;REN32900;REN32901;REN32902;REN32903;REN32904;REN32905;REN32906;REN32907;REN32908;REN32909;REN32910;REN32911;REN32912;REN32913;REN32914;REN32915;REN32916;REN32917;REN32918;REN32919;REN32920;REN32921;REN32922;REN32923;REN32924;REN32925;REN32926;REN32927;REN32928;REN32929;REN32930;REN32931;REN32932;REN32933;REN32934;REN32935;REN32936;REN32937;REN32938;REN32939;REN32940;REN32941;REN32942;REN32943;REN32944;REN32945;REN32946;REN32947;REN32948;REN32949;REN32950;REN32951;REN32952;REN32953;REN32954;REN32955;REN32956;REN32957;REN32958;REN32959;REN32960;REN32961;REN32962;REN32963;REN32964;REN32965;REN32966;REN32967;REN32968;REN32969;REN32970;REN32971;REN32972;REN32973;REN32974;REN32975;REN32976;REN32977;REN32978;REN32979;REN32980;REN32981;REN32982;REN32983;REN32984;REN32985;REN32986;REN32987;REN32988;REN32989;REN32990;REN32991;REN32992;REN32993;REN32994;REN32995;REN32996;REN32997;REN32998;REN32999;REN33000;REN33001;REN33002;REN33003;REN33004;REN33005;REN33006;REN33007;REN33008;REN33009;REN33010;REN33011;REN33012;REN33013;REN33014;REN33015;REN33016;REN33017;REN33018;REN33019;REN33020;REN33021;REN33022;REN33023;REN33024;REN33025;REN33026;REN33027;REN33028;REN33029;REN33030;REN33031;REN33032;REN33033;REN33034;REN33035;REN33036;REN33037;REN33038;REN33039;REN33040;REN33041;STS-H47623;stSG625909;stSG625910;stSG625911;stSG625912;stSG625913;stSG625914;stSG625915;stSG625917;stSG625918;stSG625919;stSG625920;stSG625921;stSG625922;stSG625923;stSG625924;stSG625925;stSG625926;stSG625927;stSG625928;stSG625929;stSG625930;stSG625931;stSG625932;stSG625933;stSG625934;stSG625935 CGI-02;COXPD10 OTTHUMP00000016738;OTTHUMP00000016740;OTTHUMP00000063806;OTTHUMP00000224666;homolog of yeast Mto1;mitochondrial MTO1-3;mitochondrial translation optimization 1 homolog;protein MTO1 homolog, mitochondrial APPROVED protein-coding ENSG00000135297 19261 17611 614667;614702 REVIEWED 4105738 MTRNR2L1 MT-RNR2-like 1 17 p11.2 22022437 22023991 + 6480464 21935731;12670303;11371646;12009529;19477263;20542501;16625196;22010475;12732850;19623253;23402768;16583711 100462977 P0CJ68 AC131055;AMYH01008270;NM_001190452 NP_001177381;P0CJ68 Hs.740185 HN1 MT-RNR2-like protein 1;MTRNR2-like 1;humanin 1;humanin-like protein 1 protein-coding ENSG00000256618 37155 VALIDATED 4105540 MTRNR2L11 MT-RNR2-like 11 (pseudogene) 1 1 q43 211356516 211358005 - 238107024 238108513 - 11371646;12009529;19477263 100463489 ABBA01033187;AL590396;AMYH01001865;NG_008799;NG_023152 HN11 APPROVED pseudo 37168 VALIDATED 4105536 MTRNR2L10 MT-RNR2-like 10 X X p11.21 59042982 59044102 - 55207824 55208944 - 11371646;12009529;19477263;15772651;12732850;19623253;20542501;23402768 100463488 P0CJ77 ABBA01069557;AL158819;AMYH01022435;NM_001190708 NP_001177637;P0CJ77 Hs.722730 HN10 MT-RNR2-like protein 10;MTRNR2-like 10;humanin 10;humanin-like protein 10 protein-coding ENSG00000256045 37167 VALIDATED 4105534 MTRNR2L12 MT-RNR2-like 12 (pseudogene) 3 q11.2 96336030 96337067 - 11371646;12009529;19477263 100463498 ABBA01026947;AC117444;AMYH01013346;NG_023159 1735226;5023539 D3S2893E;PMC316374P5 HN12 APPROVED pseudo 37169 VALIDATED 4105737 MTRNR2L2 MT-RNR2-like 2 5 q14.1 79945819 79946854 - 11371646;12009529;19477263;15372022;12732850;19623253;20542501;23402768 100462981 P0CJ69 ABBA01062044;ABBA01062045;AC008434;AMYH01015445;NM_001190470 NP_001177399;P0CJ69 Hs.666077 1792356;2114875;5023539 PMC149466P1;PMC316374P5;WI-18379 HN2 MT-RNR2-like protein 2;MTRNR2-like 2;humanin 2;humanin-like protein 2 protein-coding ENSG00000271043 37156 VALIDATED 4105736 MTRNR2L3 MT-RNR2-like 3 20 20 q13.31 52673737 52675119 - 55933496 55934878 - 11371646;12009529;19477263;11780052;12732850;19623253;20542501;23402768 100462983 P0CJ70 ABBA01052924;AL109955;AL135939;AMYH01012009;NM_001190472 NP_001177401;P0CJ70 Hs.727477 HN3 MT-RNR2-like protein 3;MTRNR2-like 3;humanin 3;humanin-like protein 3 protein-coding ENSG00000256222 37157 VALIDATED 4105533 MTRNR2L13 MT-RNR2-like 13 (pseudogene) 4 4 q26 114512304 114513766 + 117220016 117221478 + 11371646;12009529;19477263 100463500 ABBA01063859;ABBA01063860;AC024248;AMYH01014478;NG_023160 HN13 APPROVED pseudo 37170 VALIDATED 4105667 MTRNR2L4 MT-RNR2-like 4 16 16 p13.3 3627815 3629045 - 3421053 3422283 - 11371646;12009529;19477263;15616553;12732850;19623253;20542501;23402768 100463285 P0CJ71 ABBA01026740;AC025283;AMYH01007093;NM_001190476 NP_001177405;P0CJ71 Hs.639648 5021872;5037552 D8S2279;sY3084 HN4 MT-RNR2-like protein 4;MTRNR2-like 4;humanin 4;humanin-like protein 4 protein-coding ENSG00000232196 37161 VALIDATED 4105666 MTRNR2L5 MT-RNR2-like 5 10 10 q21.1 50621661 50623399 + 57358750 57360488 + 11371646;12009529;19477263;15164054;12732850;19623253;20542501;23402768 100463289 P0CJ72 ABBA01019412;AC074322;AMYH01002759;NM_001190478 NP_001177407;P0CJ72 Hs.727204 HN5 MT-RNR2-like protein 5;MTRNR2-like 5;humanin 5;humanin-like protein 5 protein-coding ENSG00000249860 37162 VALIDATED 4105539 MTRNR2L7 MT-RNR2-like 7 10 10 p11.21 37661179 37662672 - 37890366 37891859 - 11371646;12009529;19477263;15164054;12732850;19623253;20542501;23402768 100288485 P0CJ74 ABBA01033299;AL121927;AMYH01002259;NM_001190489 NP_001177418;P0CJ74 Hs.727092 HN7 MT-RNR2-like protein 7;MTRNR2-like 7;humanin 7;humanin-like protein 7 protein-coding ENSG00000256892 37164 VALIDATED 4105537 MTRNR2L8 MT-RNR2-like 8 11 p15.3 10529434 10530723 - 11371646;12009529;19477263;16554811;12732850;19623253;20542501;23402768 100463486 P0CJ75 ABBA01061157;ABBA01061158;AC021914;AMYH01003390;NM_001190702 NP_001177631;P0CJ75 Hs.717003 1794558;2164672 NIB250;PMC31832P1 HN8 MT-RNR2-like protein 8;MTRNR2-like 8;humanin 8;humanin-like protein 8 protein-coding ENSG00000255823 37165 VALIDATED 4105538 MTRNR2L6 MT-RNR2-like 6 7 7 q34 137180882 137182276 + 142374131 142375525 + 11371646;12009529;19477263;12853948;12732850;19623253;20542501;23402768 100463482 P0CJ73 ABBA01034128;AC231380;AC239612;AMYH01018007;NM_001190487;U66061 NP_001177416;P0CJ73 Hs.727419 HN6 MT-RNR2-like protein 6;MTRNR2-like 6;humanin 6;humanin-like protein 6 protein-coding ENSG00000270672 37163 VALIDATED 1343158 MTRNR3 mitochondrially encoded 5S-like sequence 4551 7472 4105535 MTRNR2L9 MT-RNR2-like 9 (pseudogene) 6 q11.1 62284008 62284534 + 11371646;12009529;19477263;14574404;12732850;19623253;20542501;23402768 100463487 P0CJ76 ABBA01039499;AL356135;AMYH01016384;NM_001190706 NP_001177635;P0CJ76 HN9 MT-RNR2-like protein 9;MTRNR2-like 9;humanin 9;humanin-like protein 9 APPROVED protein-coding 37166 VALIDATED 1603905 MTPN myotrophin The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008] 7 7 q33 135262049 135312604 - 135611503 135662204 - 6480464 12031792;16982933;16381901;16344560;15489336;15489334;14702039;12853948;12690205;12477932;11971907;11474205;11256614;11230166;11076863;10329199;8576259;8508536;8428777;1633812;17353931;12488317;20936779;22863883;22939629;16895918;19322201;21906983;22505724 136319 C9JL85;P58546;Q69YG1 AACC02000025;ABBA01001128;ABBA01001129;AC015987;AF106075;AK055660;AK056225;AK309816;AL110137;AL834231;AMYH01017960;AMYH01017961;AY611627;BC028093;BC034722;CB530008;CH236950;CH471070;DA325130;NM_145808 AAH28093;AAP97226;AAU14892;BAG51651;CAD38909;CAL38094;CAL38144;EAL24056;EAW83859;EAW83860;NP_665807;P58546 Hs.602015 FLJ31098;FLJ99857;GCDP;V-1 OTTHUMP00000208354;granule cell differentiation protein;myotrophin;protein V-1 APPROVED protein-coding ENSG00000105887 15667 07574 606484 REVIEWED 731933 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. [provided by RefSeq, Jul 2008] 1 1 q43 235025341 235130585 + 236958581 237067281 + 1581049;1581050;1302512;1601425;1580863;1359026;1300048;2317118;2317120;5508202;6480464;6907045;7240710;6893521;7207079;7207085;7242425;7242426;7242557;7242562;7207081 15202865;12375236;12068375;15845641;18843018;16737574;19440165;19837268;21818837;21737517;23073625;20814827;22108709;22353665;18936199 18799873;8968737;17353931;19504454;19493349;19427504;19420105;19394322;19389261;19353223;19349296;19336370;19332728;19328558;19283448;19263808;19240236;19177501;19161160;19159907;19124508;19112534;19074750;19064578;19048631;19034339;19020309;19019492;18996879;18992148;18988749;18983896;18844488;18842997;18842806;18836720;18830263;18815869;18801628;18785313;18771981;18700049;18676680;18636124;18635682;18620331;18607581;18510611;18498768;18485163;18483342;18447718;18435414;18427977;18406541;18386810;18378576;18351371;18329006;18322994;18281142;18273817;18249021;18222012;18204969;18199722;18174236;18060320;18053808;18034637;18023275;18004208;17993766;17967524;17925002;17904392;17891500;17853476;17822659;17726616;17702010;17691219;17664238;17655928;17636160;17617021;17611986;17596206;17595805;17590289;17581676;17574963;17553479;17551576;17546637;17533396;17522601;17461517;17454638;17450230;17449906;17436311;17417062;17412799;17339646;17311260;17311259;17287836;17220339;17160942;17152488;17151928;17119116;17119065;17074544;17035141;17024475;17009228;16985020;16947783;16894458;16861746;16799656;16778415;16712703;16709328;16580699;16485733;16470748;16407418;16365025;16333305;16328059;16284371;16268464;16142417;16115349;16051637;16051610;16013960;16006998;15979034;15894670;15889417;15866085;15820491;15797993;15790587;15719048;15612980;15598777;15551285;15514969;15354395;15205694;15201366;15198953;15159311;15148588;15138479;15117811;15111988;15098482;15044114;14977639;14760703;14744749;14702039;14684825;12964809;12923861;12893022;12876480;12855226;12810988;8968735;2407589;2070814;1583909;1517041;1516297;8968736;12649067;12648076;12642343;12482550;12477932;12372672;12164325;12154064;12111380;12091127;12020105;12716294;12670934;12015064;11920232;11684547;11672761;11592436;11584084;11342450;11257268;11204591;11186937;11074524;11074217;10791559;9683607;9587027;9242908;9013615;19170196;19533788;19588544;19619240;19625176;19649727;19683694;19692168;19706843;19706844;19729796;19737740;19751277;19760026;19774638;19776626;19776634;19777601;19826453;19834535;19838916;19843671;19858780;19936946;19948975;20031554;20056620;20082058;20085490;20101025;20111902;20180013;20209990;20235210;20237949;20310006;20378615;20437058;20445573;20447924;20453000;20458436;20466634;20490431;20532609;20544798;20549016;19913121;20615890;20628086;20634891;20647221;20670920;20737570;20723587;20819778;20852008;20883119;20890936;20955826;20960050;21041608;21045269;21055808;21070756;21045271;21385350;22407825;22939629;21774403;21092627;22005284;16196087;21349258;21603981;22863883;17955473;21567207;18029348;21605004;21947961;23266814;21139048;21890473;21906983;21963094;21775772;22236648;21780915;22470444;22453148;19322201;20301503;21643952;22339686;22719222;23415967;23455922;22855024;23155246;22053931;22505724;22797925;22803112;21956592;23438943 4548 B1ANE3;B4DFV0;B7ZLW7;Q99707 ABBA01033173;ABBA01033174;ABBA01033175;AK090487;AK125206;AK127317;AK294270;AK299904;AK307390;AL359185;AL359259;AMYH01001860;AY429553;BC015894;BC067276;BC130616;BC136440;BC144095;BC144097;BC144098;BX641132;CH471098;DC377743;NG_008959;NM_000254;U71285;U73338;U75743 AAB39704;AAB58906;AAC51188;AAI30617;AAI36441;AAI44096;AAI44098;BAG57561;BAG61745;CAE46059;EAW70066;EAW70067;NP_000245;Q99707 Hs.498187 1670796;1754979;1755663;1761863;1773563;1853836;2117985;2148792;2154484;2163966;2170183;5092920 A009C16;AL009990;D1S1568;G32413;RH70474;SHGC-141923;SHGC-142509;SHGC-145811;SHGC-76574;SHGC-76575;SHGC-76580;STS-U73338 FLJ33168;FLJ43216;FLJ45386;HMAG;MS;cblG 5-methyltetrahydrofolate--homocysteine methyltransferase;5-methyltetrahydrofolate-homocysteine methyltransferase 1;OTTHUMP00000037964;cobalamin-dependent methionine synthase;methionine synthase;vitamin-B12 dependent methionine synthase APPROVED protein-coding ENSG00000116984 7468 01136 156570;250940;601634 REVIEWED 1343796 MTTAS mitochondrially encoded termination associate sequence 4554 7476 1347106 MTTER mitochondrially encoded transcription terminator 4557 7480 1346953 MTTFH mitochondrially encoded transcription factor binding site H 4559 7482 1345731 MTTFL mitochondrially encoded transcription factor binding site L 4560 7483 1354282 MTTFX mitochondrially encoded transcription factor binding site X 4561 7484 1350819 MTTFY mitochondrially encoded transcription factor binding site Y 4562 7485 68533 MTOR mechanistic target of rapamycin (serine/threonine kinase) The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008] 1 1 p36.2 11089179 11245153 - 11166588 11322608 - 1625616;1582609;1625611;1580863;2308795;2307383;6480464;6484113;6907045;7245507;7245526;7245508;7245567;7245474;7245506;7245940;7245946;7245564;7245502;7207420;7245504;7245545 16885148;15367823;17142137;19339977;17110594;23022334;22738385;22696604;22483544;23678040;23054313;21403644;21444868;21606597;17283580;21881486;23195001;22160773 12242281;20884115;21203441;21246613;21422248;19815051;20038818;20360610;20479250;20542007;19203829;19203585;19201859;19176689;19176518;19164214;19155728;19147772;19147764;19147678;19121088;19108833;19107873;19107520;19098000;19090006;19078992;19074768;19054297;19020730;19020722;19019920;18990449;18980674;18953439;18945681;18929564;18924132;18848473;18842593;18826385;18824293;18813808;18787170;18769147;18769127;18757300;18725988;18715846;18704194;18702307;18697743;18678646;18660489;18658153;18652687;18650380;18622747;18612547;18596736;18570873;18563337;18548093;18519641;18511708;18494264;18483275;18434090;18426977;18423201;18413763;18395956;18372248;18351386;18348264;18339899;18337562;18292222;18276609;18250445;18247380;18215133;18056791;18048359;18006825;17996122;17993259;17991864;17990907;17942603;17935273;17928295;17914450;17911267;17889116;17726467;17724079;17721885;17698027;17693255;17683115;17656678;17640392;17631500;17616691;17616684;17604271;17595159;17565979;17562865;17562705;17553806;17545512;17488873;17483438;17482291;17470430;17463046;17461779;17409838;17372934;17363738;17351147;17329620;17329400;17318075;17289850;17253963;17215282;17148679;17114181;17110454;17102641;17075574;17052453;17028174;17018601;17016437;16963469;16962653;16959214;16954686;16929481;16927414;16916907;16914728;16912980;16912159;16884363;16874098;16870609;16849522;16847060;16824195;16818690;16786123;16710414;16652388;16543150;16467080;16427044;16407298;16354680;16341243;16286006;16282343;16242075;16183647;16141350;16109716;16099944;16098202;16049009;16027121;16006564;15953364;15905173;15899889;15878852;15854902;15843522;15802268;15723049;15708965;15702344;15659381;15657358;15632201;15632115;15624760;15623621;15605414;15604215;15584862;15580312;15576463;15522880;15496972;15489897;15489334;15452223;15388791;15342556;15317677;15292274;15268862;15218033;15150271;15056668;15028555;15004009;15001544;14970221;14729629;14668532;14578359;12912989;12820960;12813467;12807916;12718876;12665511;12604610;12558800;12477932;12370290;12271141;11853878;15718470;15467718;18497260;15539461;18925875;15755954;15809305;19553991;19454477;19446321;19416884;19414743;19402821;19357233;19331815;19321861;19299575;19293424;19285014;19258318;19244117;19240722;19234517;19225536;19225151;19223902;19223493;19222999;12231510;12172553;12150926;12150925;12145207;12105188;12080086;12030785;12000755;11967149;11930000;11914378;11884412;11777913;11733037;11729323;11691993;11691836;11438723;11426320;11114166;10942774;10910062;10779345;10702316;10664457;10364159;10325225;10089303;9653645;9465032;9434772;9405468;9099849;9092573;8662507;8660990;8083223;8008069;7809080;7539137;11602639;12796477;16452250;16631613;17043309;16919458;16603397;15066126;12719976;16837165;16798736;15459249;12747827;16541103;10660304;16922504;15896331;14679009;10971657;10567431;16915281;15772076;10698949;10200280;11287630;17360675;15796538;15284440;7822316;15767663;10753870;22338078;22457328;22504639;22556133;22586326;21973240;22452883;22826320;22761730;22944293;22955108;21329734;21430254;21444676;20395440;20606252;20607654;20805416;22987636;21145759;19936974;20335217;20372862;20375271;20410302;20424163;20439490;19897009;20070283;20622004;20679884;20182617;20460933;20480226;11279232;12408816;16098514;16221682;17277771;18339839;18776922;18794342;18807177;18926585;18948269;19145465;19147966;19176054;19211835;19341427;19373664;19487463;19505958;19509151;19535348;19539012;19553685;19553815;19561084;19564927;19587219;19608873;19619545;19624311;19648884;19654299;19657638;19679016;19680556;19690328;19698731;19724909;19725049;19726679;19739122;19757306;19771169;19788500;19789507;19789631;19794149;19797172;19838215;19864431;19875696;19881535;19889638;19914247;19935716;19935854;19955088;19956179;19956839;19956876;19956903;19966861;20005306;20009539;20019839;20022946;20030877;20048174;20080789;20081105;20093977;20145209;20153512;20157617;20160076;20166697;20166753;20176935;20190810;20204306;20227368;20232298;20232305;20233713;20236941;20299603;20308064;20338997;20354165;20354178;20375166;20379614;20381137;20388784;20412774;20424326;20447721;20453000;20488790;21471201;21159731;21326036;21170086;18831768;19018001;20226010;20438709;20857497;19489223;20628002;21035469;21048031;19371356;20053679;20459645;19949304;20061787;20338061;19301157;20801936;20861467;21033251;20150565;20543138;20542987;20809949;20837708;19615795;20427710;20459775;20630061;20817788;21071439;21199794;20368287;20386866;20427287;20537536;20562859;20805015;20855840;20133820;20339946;20517583;20668229;20811722;20811725;20864032;21095582;21062981;20656459;20727662;20727967;21040950;21062993;21304100;21360636;21659604;20673489;21035497;21242970;21264294;21464729;19954658;21071597;21239045;21277936;21290341;21294052;21320304;21289308;21412012;21512002;21177869;21228927;21266827;21336308;21123297;20491627;21212465;20717925;21325052;21609291;20874802;21276607;21307192;20929525;21258367;19875983;22863883;22977662;22990118;23107319;23216249;22328503;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2475 B1AKP8;B1AKQ2;P42345 AA725390;AB209995;ABBA01003042;ABBA01003043;ABBA01003044;ABBA01003045;AF152840;AJ300188;AK126762;AK302863;AK304273;AL049653;AL109811;AL359082;AL391561;AMYH01000252;AMYH01000253;AMYH01000254;BC117166;BP250183;CH471130;DC403129;JB157964;L34075;L35478;NG_033239;NM_004958;U88966 AAA58486;AAC39933;AAC41713;AAI17167;BAE06077;BAG54371;BAG64047;BAG65134;CAC15570;CAC42395;CCW44092;EAW71681;EAW71682;EAW71683;NP_004949;P42345 Hs.338207 1648979;1653313;1682153;1696792;1722353;1722363;1732872;1754059;1783792;2126507;2130327;2175139;2183063;2191399 D1S1298;G60245;G60252;MARC_21302-21303:1032900670:1;RH25957;SHGC-12595;SHGC-132097;SHGC-132902;SHGC-56461;SHGC-74210;SHGC-74211;SHGC-74214;SHGC-74243;SHGC-79836 FLJ44809;FRAP;FRAP1;FRAP2;RAFT1;RAPT1 FK506 binding protein 12-rapamycin associated protein 1;FK506 binding protein 12-rapamycin associated protein 2;FK506-binding protein 12-rapamycin complex-associated protein 1;FKBP-rapamycin associated protein;FKBP12-rapamycin complex-associated protein 1;OTTHUMP00000001983;mammalian target of rapamycin;rapamycin and FKBP12 target 1;rapamycin associated protein FRAP2;rapamycin target protein 1;serine/threonine-protein kinase mTOR 1643585 SGHRL1_H APPROVED protein-coding ENSG00000198793 3942 03134 601231 REVIEWED 1352853 MTRF1 mitochondrial translational release factor 1 The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008] 13 13 13 q14.1-q14.3 22847948 22895130 - 40688516 40735713 - 41790516 41837713 - 1580863;6480464 20598281;9838146;18429816;17803939;15489334;15057823;14702039;12477932;10773675;20877624;21097510 9617 B4DG01;O75570;Q8N6Z2 AA573449;ABBA01021273;ABBA01021274;AF072934;AK055086;AK294343;AL354696;AMYH01005061;BC027731;BC038427;BC042196;BC065496;CA489782;CH471075;NM_004294 AAD12759;AAH27731;AAH42196;BAG51464;BAG57612;EAX08648;EAX08649;EAX08650;EAX08651;EAX08652;EAX08653;NP_004285;O75570 Hs.382176 1736330;5037552 D13S832E;D8S2279 MGC47721;MRF1;MTTRF1;RF1 MRF-1;OTTHUMP00000018315;OTTHUMP00000018316;mitochontrial peptide chain release factor 1;mtRF-1;peptide chain release factor 1, mitochondrial APPROVED protein-coding ENSG00000120662 7469 06855 604601 REVIEWED 1316759 MTRF1L mitochondrial translational release factor 1-like Mitochondrial DNA encodes 13 proteins that play essential roles in the respiratory chain, while all proteins involved in mitochondrial translation are encoded by nuclear genes that are imported from the cytoplasm. MTRF1L is a nuclear-encoded protein that functions as a releasing factor that recognizes termination codons and releases mitochondrial ribosomes from the synthesized protein (summary by Nozaki et al., 2008 [PubMed 18429816]).[supplied by OMIM, Nov 2010] 6 6 6 q25-q26 154042070 154057593 - 153351363 153365540 - 153308400 153323925 - 6480464 18541145;20598281;18978678;18429816;17803939;16344560;14702039;12477932;8125298;20877624;17207965;11256614;21906983 54516 Q5TF45;Q9UGC7 ABBA01025614;AK027684;AK095240;AK225321;AK225970;AK290662;AK297671;AL080276;AMYH01016750;BC011873;BC014428;BC105973;CH471051;DA152954;NM_001114184;NM_019041 AAH11873;AAH14428;AAI05974;ADQ32364;BAB55295;BAF83351;BAG53012;BAG60033;EAW47712;EAW47713;EAW47714;EAW47715;EAW47716;NP_001107656;NP_061914;Q9UGC7 Hs.225836 1664299;1685209;1687776;2126444;2156949;2156951 G31005;RH40925;RH46684;RH46856;SHGC-31292;SHGC-64052 HMRF1L;MGC102748;MRF1L;mtRF1a OTTHUMP00000017455;OTTHUMP00000017456;OTTHUMP00000017457;OTTHUMP00000017458;mitochondrial release factor 1 like;peptide chain release factor 1-like, mitochondrial APPROVED protein-coding ENSG00000112031 21051 17613 613542 VALIDATED 1603934 MTSS1L metastasis suppressor 1-like 16 16 16 q22.1 54809225 54829060 + 69252608 69277455 - 70695107 70719954 - 6480464 14752106;12477932;20875796 92154 H3BPV0;I3L2G4;Q765P7 AB115770;ABBA01010649;ABBA01010650;ABBA01010651;AC020763;AMYH01007784;AMYH01007785;AMYH01007786;BC002770;BC011452;BC024752;BC025271;BU859607;CH471241;NM_138383 AAH02770;AAH24752;AAI56234;AAI72467;BAC98378;EAW51797;EAW51798;EAW51799;NP_612392;Q765P7 Hs.432387 1662738;1737553;2161854;2180773 D16S2659;D16S3397;G35011;SHGC-61090 ABBA-1 MTSS1-like protein;actin-bundling protein with BAIAP2 homology;actin-bundling with BAIAP2 homology protein 1 protein-coding ENSG00000132613 25094 14289 PROVISIONAL 6481311 MTUS2-AS2 MTUS2 antisense RNA 2 100874106 AL596092 APPROVED miscrna 40923 1343554 MTUS1 microtubule associated tumor suppressor 1 This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008] 8 8 p22 17545583 17702666 - 17501303 17658426 - 708603;2317016;2317017;2317019;6480464 12692079;19956880;19794912;16270321 19344625;18519826;17301065;16887298;16650523;16344560;15123706;14702039;12477932;10574462;19545354;20379614;20687230;21988832;22678362;23396587;17068200;22153618 57509 H0YC63;Q659F4 AB033114;ABBA01021580;ABBA01021581;AC027117;AC124069;AF086371;AF121259;AF293357;AF394227;AK000172;AK024357;AK026661;AK093875;AK125188;AK289750;AK294860;AK304105;AK310871;AK314692;AL096842;AMYH01018547;AMYH01018548;AY363099;BC007328;BC017740;BC033842;BC098381;BC117564;BC136320;BC142971;BC171765;BX648879;CH471080;DA075758;DA113649;DA339588;DB221458;FJ458441;FJ472826;FJ472827;NG_023373;NM_001001924;NM_001001925;NM_001001931;NM_001166393;NM_020749 AAG33674;AAH07328;AAH33842;AAI36321;AAI40068;AAI40069;AAI42972;AAL37035;AAQ24172;BAA86602;BAB14894;BAF82439;BAG37243;BAG54161;BAG57964;BAG65008;CAB50791;CAH56128;EAW63804;EAW63805;EAW63806;EAW63807;EAW63808;EAW63809;EAW63810;NP_001001924;NP_001001925;NP_001001931;NP_001159865;NP_065800;Q9ULD2 Hs.7946 1667107;1759785;1767294;1774673;1794216;2131799;2139661;2173457;2179104;2180489;2187257 A008L44;D8S1412E;G17214;PMC310830P25;RH12837;SHGC-170025;SHGC-52401;SHGC-53007;SHGC-57581;STS-R55192;WI-14143 ATBP;ATIP;DKFZp586D1519;DKFZp686F20243;FLJ14295;ICIS;KIAA1288;MP44;MTSG1 AT2 receptor-binding protein;AT2 receptor-interacting protein;AT2R binding protein;OTTHUMP00000224769;OTTHUMP00000224771;OTTHUMP00000224772;OTTHUMP00000224773;angiotensin-II type 2 receptor-interacting protein;erythroid differentiation-related;microtubule-associated tumor suppressor 1;mitochondrial tumor suppressor gene 1;transcription factor MTSG1 APPROVED protein-coding ENSG00000129422 29789 11376 609589 REVIEWED 6481309 MTUS2-AS1 MTUS2 antisense RNA 1 13 q12.3 30050652 30061887 - 11181995;12477932 100874107 ABBA01035714;AL596114;AMYH01005000;BC027486;BI223246;CH471075;NR_046378 EAX08442 Hs.577987 APPROVED miscrna ENSG00000179141 40924 VALIDATED 1350518 MTX1P1 metaxin 1 pseudogene 1 1 1 1 q22 128274042 128277502 + 153467391 153470851 + 155200767 155204242 + 9331372;8660965;7753840 4581 ABBA01016712;AC217785;AF023268;AL713999;AMYH01001426;NG_001160;U46921 1693192;1767193;1850167;2155245 AL034327;D1S3500;G06424;RH69089 MTX1P;MTXP;psMTX APPROVED pseudo 7505 INFERRED 1346037 MTUS2 microtubule associated tumor suppressor candidate 2 13 13 13 q12.3 10674610 11155718 + 28496748 28978084 + 29598748 30080084 + 6480464 19543227;16189514;12477932;9872452;17207965;19806667;20379614;17704809;22558309;23595990;22754043;19060904;23251661 23281 J3KQA9;Q5JR59 AB018317;ABBA01035713;ABBA01035714;ABBA01035715;ABBA01035716;ABBA01035717;ABBA01035718;ABBA01035719;AK293970;AK301633;AK302516;AL160255;AL596092;AL596114;AL607144;AMYH01004997;AMYH01004998;AMYH01004999;AMYH01005000;BC032481;BC119654;BC119655;BC129985;BC150245;BM906724;BU788127;CH471075;NM_001033602;NM_015233 AAH32481;AAI19655;AAI19656;AAI29986;AAI50246;ADQ31667;BAA34494;BAG57342;BAG63116;BAG63792;EAX08439;EAX08440;NP_001028774;NP_056048;Q5JR59 Hs.22287 1652563;1660834;1674781;1723651;1729881;1736374;1755533;1852134;2111382;2111572;2111600 D13S120;D13S1486;D13S1527;D13S1543;D13S820E;D13S875E;RH118743;SHGC-142389;SHGC-32243;SHGC-34613;WI-13581 CAZIP;ICIS;KIAA0774;TIP150 +TIP of 150 kDa;OTTHUMP00000018187;OTTHUMP00000018188;cardiac zipper protein;microtubule plus-end tracking protein TIP150;microtubule-associated tumor suppressor candidate 2;tracking protein of 150 kDa APPROVED protein-coding 20595 11108 VALIDATED 1318580 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 5 5 p15.31 7922217 7954237 + 7869217 7901237 + 1581051;1580863;1359037;2325772;2317118;5508217;5508183;5508199;5508189;1302512;5490535;5508186;6480464;7240710;7242426;7242557;7244247;6893652 15612980;15979034;18843018;21947961;21070756;12590188;15714522;12375236;21615938;18483342;20814827;22108709;22179537;18774994 11807890;11806787;11592436;11472746;10791559;10564814;10500018;10484769;10444342;9501215;19493349;19461557;19427504;19394322;19353223;19348062;19339913;19336437;19336370;19263808;19254790;19161160;19112534;19074885;19064578;19048631;19035314;19020309;19019492;18992148;18988749;18983896;18978678;18936436;18842997;18836720;18830263;18792976;18785313;18774170;18771981;18700049;18682255;18676680;18635682;18614746;18610829;18607581;18590621;18515090;18510611;18485163;18435414;18427977;18386810;18378576;18257130;18249021;18226574;18222012;18221906;18204969;18199722;18174236;18061941;18034637;18023275;18004208;17993766;17967524;17934692;17925002;17904392;17892308;17853476;17822659;17655928;17636160;17611986;17596206;17581676;17554763;17553479;17546637;17533396;17522601;17477549;17461517;17454638;17436311;17417062;17376725;17311260;17311259;17220339;17152488;17136115;17119116;17113603;17101561;17087642;17079868;17074544;17035141;17024475;17009228;16985020;16947783;16894458;16861746;16820193;16769880;16580699;16575899;16485733;16470748;16351505;16316363;16268464;16115349;16013960;16006998;15894670;15889417;15866085;15797993;15514969;15514263;15489334;15354395;15347655;15216546;15159311;15135249;15059614;14977639;14967039;14716779;14652285;14632302;12939653;12923861;12876480;12855226;12810988;12807760;12801615;12716294;12649067;12642343;12555939;12482550;12477932;12416982;12020105;19064571;19170196;19533788;19625176;19657388;19692168;19706844;19729796;19737740;20209990;20373852;19760026;19774638;19776626;19776634;19777601;19812220;19837268;19843671;19852428;19858780;19936946;19948975;20031554;20047525;20056620;20082058;20085490;20099281;20180013;20378615;20386493;20411324;20437058;20447924;20453000;20458436;20466634;20511665;20544798;20549016;22796266;20120036;20726305;19913121;20615890;20628086;20634891;20647221;20718043;20737570;20140262;20852008;20883119;20888556;20948192;20960050;20962453;21041608;21045269;21055808;21211571;20955826;22863883;21092627;21204909;22005284;21472912;21774403;18029348;22706675;21547363;21987236;21349258;21603981;21438757;21775772;22057956;22097960;21139048;21906983;22813657;23266814;22236648;21780915;20301503;19322201;22479380;22339686;22719222;22864933;22373582;23225055;23372658;22665368;23039890 4552 D6RAY3;D6RAZ2;D6RF21;D6RGC7;D6RIS8;H0Y8S9;H0Y963;H0Y9D5;H0Y9Q0;Q9UBK8 ABBA01020576;AC010346;AC025174;AF025794;AF121213;AF121214;AK308442;AK311663;AMYH01014892;BC035977;BC054816;BC062577;BC109216;BC109217;CH471102;NG_008856;NM_002454;NM_024010 AAC39667;AAF16876;AAF17303;AAF17304;AAH54816;AAI09217;EAX08090;EAX08091;EAX08092;EAX08093;NP_002445;NP_076915;Q9UBK8 Hs.481551 1664089;1785402;1796370;1850037;1850039;2176273 A002A03;G19837;MTRR_214;RH11562;SHGC-143127;STS-N29717 MGC129643;MSR;cblE OTTHUMP00000115546;OTTHUMP00000220821;[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing);methionine synthase reductase;methionine synthase reductase, mitochondrial APPROVED protein-coding ENSG00000124275 7473 03979 236270;601634;602568 REVIEWED 1346210 MUC10 mucin 10, submandibular gland salivary mucin 386748 BC042902 23491 1348967 MUC11 mucin 11 1580863 10463611 10070 Q9UKN0 7509 1320466 MTSS1 metastasis suppressor 1 8 8 p22 125632206 125809911 - 125563025 125740730 - 1580863;6480464;6484113 12570871;12082544;19328678;17442377;16921485;16344560;16280553;15684034;15545630;15489334;15488640;15383276;14752106;14702039;12482861;12477932;9455477;8889548;16169070;21909138;20080650;20201926;20379614;20712855;22455847;21196400;23350348;23017832;21696600;21965727;22100162;21927027;22479308;22681717;23383207;22721729;23382691 9788 B7Z3B6;E5RJX3;E7EWW5;H0YAZ8;H0YB53;H0YBL3;J3KNK6;O43312 AB007889;ABBA01037900;ABBA01037901;ABBA01037902;AC090198;AC090922;AF086645;AF116674;AI041104;AJ710067;AK027015;AK126651;AK126989;AK295681;AK302036;AK310792;AMYH01019009;BC023998;BU674412;CH471060;DA451172;EF560715;NM_014751;U50573 AAF15947;AAF71094;AAH23998;ABQ59025;BAA24859;BAC86629;BAC86779;BAH12152;BAH13614;EAW92069;EAW92070;EAW92071;EAW92072;EAW92073;EAW92074;NP_055566;O43312 Hs.336994;Hs.700429 1338586;1645427;1653133;1664038;1672154;1675137;1675517;1731899;1759087;1850555;2129040;2145946;2154137;2155697;2178471;2182860;2184610;5093514 A008N08;A009Q06;D17S825E;D8S1357E;D8S1799;D8S2132;D8S58;G32763;RH18269;RH46386;RH46986;RH68595;RH69480;RH80990;SGC30260;SHGC-150814;STS-H91255;WI-21130 DKFZp781P2223;FLJ44694;KIAA0429;MIM;MIMA;MIMB OTTHUMP00000045859;OTTHUMP00000228225;OTTHUMP00000228306;metastasis suppressor YGL-1;metastasis suppressor protein 1;missing in metastasis protein protein-coding ENSG00000170873 20443 12243 608486 VALIDATED 1318126 MTTP microsomal triglyceride transfer protein MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008] 4 4 q24 100704263 100764177 + 100485240 100545154 + 1581043;1581044;1581045;1625482;1625483;1625489;1625485;1625486;1625487;1625492;1580863;1625490;6480464 14741197;10946006;8533758;17215532;16697730;12191589;16328015;15635487;15136504;17426313;11849654 18280132;21502686;1439810;19501864;19420105;19403348;19262398;19255880;19155782;19056372;19018985;18996102;18951054;18803359;18624350;18497885;18497882;18482281;18325332;18065580;18034366;18027103;17924655;17854051;17825806;17784784;17700364;17690102;17647275;17476189;17464986;17339647;17275380;16721486;16617174;16611701;16518588;16458034;16344560;16321277;16291571;16183064;16015282;15953542;15911777;15864113;15795421;15719047;15701598;15654125;15547295;15547294;15504742;15489334;15337761;15297289;15094225;15028851;14732481;14615589;12818411;12775233;12716735;12691171;12630961;12477932;12231571;12116231;12020640;11834530;11792722;11358959;10679949;9915855;9694898;9211060;9106493;8939939;8856971;8361539;8125298;8111381;7961826;7664034;7545943;16712791;21316344;20592474;19546343;19689828;19733470;19817962;20007910;19913121;20602615;20628086;20855565;23043934;21394827;21438662;22150066;23532846;21727734;22357705;22496539;23356586;22147193;23273182 4547 D6R915;D6RAB8;D6RBJ4;D6REL9;D6REP9;D6RHZ9;D6RJG5;E9PBP6;P55157;Q6P5T3 AA609331;ABBA01063674;AC083902;AK225328;AK290793;AK302602;AMYH01014421;AMYH01014422;BC062696;BC125110;BC125111;BE047932;CB162574;CH471057;DB083001;NG_011469;NM_000253;X59657;X75500;X83013;X83030;X91148 AAH62696;AAI25111;AAI25112;BAF83482;BAH13759;CAA42200;CAA53217;CAA58142;CAA62585;EAX06106;NP_000244;P55157 Hs.195799 1654157;1675261;1743977;1771678;1773683;2133379;2162024 D4S979;GDB:384603;SHGC-12008;SHGC-67619;SHGC-67823;STS-N41015;STS-X59657 ABL;MGC149819;MGC149820;MTP OTTHUMP00000161646;OTTHUMP00000220444;microsomal triglyceride transfer protein (large polypeptide, 88kDa);microsomal triglyceride transfer protein large subunit APPROVED protein-coding ENSG00000138823 7467 01144 157147 REVIEWED 1351611 MTX1 metaxin 1 1 1 q21 153445114 153450249 + 155178490 155183625 + 1580863;6480464 17353931;8660965;17624330;17510655;15252450;15024629;12477932;11454742;9045676;7753840;11027586;10381257;9331372;18029348;20877624;23142642;22939629;21139048;21890473;21906983;22114354;22797727;21837367;22505724 4580 H0Y6Y5;Q13505 ABBA01016713;AC217785;AF023268;AK313863;AL713999;AMYH01001426;AX775989;BC001906;BC035616;BE394487;BG717732;BQ003402;BU552401;CF529296;CH471121;DQ786325;NM_002455;NM_198883;U46920 AAC50490;AAC51819;AAH01906;BAG36591;CAE11694;EAW53105;EAW53106;EAW53107;EAW53108;NP_002446;NP_942584;Q13505 Hs.490874 1693192;1767193;1850167;2119880;2155245 AL034327;D1S3500;G06424;RH69089;RH79053 MTX;MTXN OTTHUMP00000033824;OTTHUMP00000033825;OTTHUMP00000033826;metaxin-1;mitochondrial outer membrane import complex protein 1 protein-coding ENSG00000173171 7504 11861 600605 VALIDATED 1350619 MUC13 mucin 13, cell surface associated Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008] 3 3 3 q21.2 123031093 123060381 - 126106979 126136270 - 124624289 124653595 - 1302405;1580863;6480464 11278439 19176398;18834073;17058067;15904467;14702039;12975309;12507512;16344560;21450906;22027689;22914648;22505724 56667 C9IZG1;Q9H3R2 AB035807;ABBA01016431;AC026342;AF286113;AK000070;AMYH01013439;AY358831;CH471052;DA428072;NM_033049 AAI72322;AAK56861;AAQ89190;BAA90925;BAB19651;EAW79404;NP_149038;Q9H3R2 Hs.5940 1784794;1784796;1797888;2148234 MUC13_1868;SHGC-155142;SHGC-155143;SHGC-77291 DRCC1;FLJ20063;MUC-13 MUC-13;OTTHUMP00000215538;down-regulated in colon cancer 1;mucin 13, epithelial transmembrane;mucin-13 APPROVED protein-coding ENSG00000173702 7511 10101 612181 VALIDATED 1346263 MUC16 mucin 16, cell surface associated 19 19 p13.2 8820520 8953018 - 8959520 9092018 - 1580863;2325132;2325134;2325203;2325129;2325142;6480464 17542293;1657243;20356397;19377061;1653472 20361286;14676194;12766047;19440066;19383238;19337252;19270645;19122828;19075018;19064572;19060592;18854288;18834073;18820245;18797897;18782111;18609108;18555226;18503158;18342144;18317225;18042071;17942799;17852813;17852076;17706208;17662495;17604678;17592322;17449138;17413979;17301071;17300679;17285443;17211626;17067392;16979301;16923563;16384952;16194893;16174214;15788735;15599662;15483748;15016783;14764598;14702039;21792548;21344262;21421261;21601106;21404303;22674301;22380506;14566828;12893366;12734200;12218296;11920644;11786729;11369781;10737800;12615972;21331365;20090516;21338226;20861755;18555706;19437230;19556244;19585675;19589273;20008896;20009886;20089172;20099501;20488159;22260844;20598042;20628030;20497550;21046495;20201996;19937162;20466443;20091044;21280316;21326240;21358606;22939629;22727919;20680316;20803207;21614912;21079983;20118015;21515085;21625941;21785467;21508102;20373053;21836488;20822954;22022186;21893498;21775916;22066010;21367474;23053434;23426716;22941175;22320398;22159147;22284961;22286058;21852110;23095772;23314748;22994745;23343214;23322523;23544943;22528792;22542127;22412224;22639051 94025 B3KY81;B5ME49;F8WE81;M0QZZ9;M0R2S7;M0R2Y5;Q8WXI7 ABBA01014650;ABBA01014651;ABBA01014652;ABBA01029993;ABBA01029994;ABBA01029995;ABBA01029996;ABBA01029997;ABBA01029998;ABBA01029999;AC008734;AC016584;AF361486;AF414442;AK024365;AK056791;AK128681;AK128856;AK128857;AM903345;AMYH01009457;BF359193;BI256451;NM_024690 AAK74120;AAL65133;BAB14899;BAC87568;BAG54742;BAG54743;CAP17281;NP_078966;Q8WXI7 Hs.432676 1340688;1725077;1754129;1783780;2180596;2184206 D19S1117;D1S2831;RH118834;RH66740;SHGC-111231;SHGC-132163 CA125;FLJ14303 CA-125;CA125 ovarian cancer antigen;MUC-16;OTTHUMP00000240375;mucin 16;mucin-16;ovarian cancer-related tumor marker CA125;ovarian carcinoma antigen CA125 protein-coding ENSG00000181143 15582 606154 VALIDATED 1347863 MUC12 mucin 12, cell surface associated 7 7 7 q22 95609644 95669939 + 100421633 100448950 + 100612904 100662230 + 1580863 10463611;18834073;12477932;20162577;20936779 10071 F5GWV9;H7BXN1;Q9UKN1 ABBA01011354;ABBA01011355;ABBA01165371;AC105446;AF147790;AF147791;AK024856;AK025404;AK296627;AMYH01017747;AMYH01017748;AMYH01017749;BC127877;CH471197;NM_001164462 AAD55678;AAD55679;AAI27878;BAH12403;EAW50190;NP_001157934;Q9UKN1 Hs.489355 1764273;1779153;1788234;1788236;1789520;2147493;5123261;5126493 D7S3097;D7S3099;D7S3180;D7S797E;GDB:4585235;GDB:4585389;RH48096;SHGC-147897 MUC-11;MUC-12;MUC11 OTTHUMP00000211374;mucin 11;mucin 12;mucin-11;mucin-12 protein-coding ENSG00000205277 7510 604609 PROVISIONAL 1601695 MTX3 metaxin 3 5 5 5 q14.1 75173880 75188429 - 79308295 79322844 - 79272539 79287088 - 6480464 15087125;14702039;12477932;21890473;21906983 345778 Q5HYI7 ABBA01062029;AC112184;AK091375;AK296864;AMYH01015443;AW957034;BC035085;BC150295;BQ128103;BX537790;BX538064;BX647596;CH471084;DB456588;NM_001010891;NM_001167741 AAI60186;BAG59427;CAD97995;CAI46098;EAW95840;NP_001010891;NP_001161213;Q5HYI7 Hs.531418 1678857;5024761;5037552;5109281 D1S1425;D8S2279;RH36905;RH98987 DKFZp686O1788 OTTHUMP00000222296;OTTHUMP00000222297;OTTHUMP00000222298;OTTHUMP00000223526;metaxin-3 protein-coding 24812 17614 VALIDATED 1343631 MUC19 mucin 19, oligomeric Mucus is a viscoelastic substance that covers the epithelial surface of various tissues, providing lubrication and protection from environmental insults. The gel-like properties of mucus are generally attributed to the physical properties and structural features of gel-forming mucins, such as MUC19 (Chen et al., 2004 [PubMed 12882755]).[supplied by OMIM, Jul 2008] 12 12 q12 39099241 39159173 + 40791677 40964448 + 6480464 19068216;18834073;18587394;18426393;18184611;17667140;15340121;14702039;12882755;21075863;19533339;19714762;21102463;21072187;20379614;21072847;23128233 283463 C9JCE7;H0YH61;H7BZA9;J3QSZ1;Q7Z5P9 ABBA01031370;ABBA01031371;ABBA01031372;ABBA01031373;AC024935;AC074030;AC107023;AK093065;AMYH01004395;AY236870;BG718209;CR749517;DV080669;DV080670;HM801842;HM801843;HM801844;HM801845;HM801846;HM801847;HM801848;HM801849;HM801850;HM801851;HM801852;HM801853;HM801855;HM801856;HM801857;HM801858;HM801859;HM801860;HM801861;HM801862;XM_003846356;XM_003846558;XM_003960518 AAP41817;AEM63682;AEM63683;AEM63684;AEM63685;AEM63686;AEM63687;AEM63688;AEM63689;AEM63690;AEM63691;AEM63692;AEM63693;AEM63694;AEM63695;AEM63696;AEM63697;AEM63698;AEM63699;BAC04041;Q7Z5P9;XP_003846404;XP_003846606;XP_003960567 Hs.632712 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FLJ35746;MUC-19 MUC-19;OTTHUMP00000066281;OTTHUMP00000067238;mucin 19;mucin-19 APPROVED protein-coding 14362 612170 MODEL 737252 MUC1 mucin 1, cell surface associated This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] 1 1 q21 153424924 153429324 - 155158300 155162706 - 2324667;2303743;2324855;2317987;2324633;2317986;2324649;2324856;2324857;2317980;2317983;2317981;2324651;2324637;2324638;2324639;2324650;2324616;2324664;2324652;2324622;2324648;2324635;5131164;5131176;2317984;2324860;5131260;5131166;5131171;5131272;5131281;5131424;5131160;4143496;5131273;5131175;5131173;5131182;5131170;5131177;5131276;6480464;7245968;7246892;7244289;7244290;7245959;7240710;7245967 15213623;11576628;7678777;19129927;18713982;19639217;16222735;8766528;10398137;20357691;14681945;20107918;15260848;18383873;18081149;18039393;15554392;19109152;19260467;12941828;19055478;16707592;18575732;19856476;15088311;14654947;11295067;8694545;19336590;16779848;19960788;11802251;9617869;21474912;19286849;16969297;15526815;15654008;10931429;18025794;14665489;12186700;10390012;17162148;23396133;22963039;22019164;10468735 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4582 A5YRU5;A5YRU7;A5YRV0;A5YRV1;A5YRV2;A6ZID6;A6ZID7;A6ZIE0;A6ZIE4;A6ZIE6;B1AVQ5;B1AVQ7;B6ECA1;B6ECB3;Q7Z538;Q7Z547;Q7Z548;Q7Z551 AA425062;ABBA01016713;AF125525;AF348143;AK301575;AL713999;AMYH01001426;AY327582;AY327583;AY327584;AY327585;AY327586;AY327587;AY327588;AY327589;AY327590;AY327591;AY327592;AY327595;AY327596;AY327597;AY327598;AY327599;AY327600;AY463543;AY466157;BC120974;BC120975;BM969296;BM971650;CH471121;EF583642;EF583643;EF583644;EF583645;EF583646;EF583647;EF583648;EF583649;EF583650;EF583651;EF583652;EF583653;EF583654;EF583655;EF583656;EF670706;EF670707;EF670708;EF670709;EF670710;EF670711;EF670712;EF670713;EF670714;EF670715;EF670716;EF670717;EF670718;EF670719;EF670720;EF670721;EF670722;EF670723;FJ226028;FJ226029;FJ226030;FJ226031;FJ226032;FJ226033;FJ226034;FJ226035;FJ226036;FJ226037;FJ226038;FJ226039;FJ226040;FJ226041;FJ226042;FJ226043;FJ226044;FJ226045;FJ226046;FJ226047;FJ226049;FJ226050;FJ226051;FJ226052;FJ226053;FJ226054;FJ226055;J05581;J05582;JA362576;L38597;M26316;M31823;M32738;M32739;M34088;M34089;M35093;M61170;NG_029383;NM_001018016;NM_001018017;NM_001044390;NM_001044391;NM_001044392;NM_001044393;NM_001204285;NM_001204286;NM_001204287;NM_001204288;NM_001204289;NM_001204290;NM_001204291;NM_001204292;NM_001204293;NM_001204294;NM_001204295;NM_001204296;NM_001204297;NM_002456;S81736;S81781;U60259;U60260;U60261;X52228;X52229;X80761;Z17324;Z17325 AAA35757;AAA35804;AAA35805;AAA35806;AAA35807;AAA36336;AAA57348;AAA59876;AAA60019;AAB53150;AAB59612;AAD10856;AAD10857;AAD10858;AAD14369;AAD14376;AAD27842;AAI20975;AAI20976;AAK30142;AAP97013;AAP97014;AAP97015;AAP97016;AAP97017;AAP97018;AAP97019;AAP97020;AAP97021;AAP97022;AAP97023;AAP97024;AAP97025;AAP97026;AAP97027;AAP97028;AAP97029;AAR18816;AAR28764;ABQ59617;ABQ59618;ABQ59619;ABQ59620;ABQ59621;ABQ59622;ABQ59623;ABQ59624;ABQ59625;ABQ59626;ABQ59627;ABQ59628;ABQ59629;ABQ59630;ABQ59631;ABS01293;ABS01294;ABS01295;ABS01296;ABS01297;ABS01298;ABS01299;ABS01300;ABS01301;ABS01302;ABS01303;ABS01304;ABS01305;ABS01306;ABS01307;ABS01308;ABS01309;ABS01310;ACI25160;ACI25161;ACI25162;ACI25163;ACI25164;ACI25165;ACI25166;ACI25167;ACI25168;ACI25169;ACI25170;ACI25171;ACI25172;ACI25173;ACI25174;ACI25175;ACI25176;ACI25177;ACI25178;ACI25179;ACI25180;ACI25181;ACI25182;ACI25183;ACI25184;ACI25185;ACI25186;BAG63068;CAA36477;CAA36478;CAA56734;CAA78972;CAA78973;CCA94570;EAW53116;EAW53117;EAW53119;NP_001018016;NP_001018017;NP_001037855;NP_001037856;NP_001037857;NP_001037858;NP_001191214;NP_001191215;NP_001191216;NP_001191217;NP_001191218;NP_001191219;NP_001191220;NP_001191221;NP_001191222;NP_001191223;NP_001191224;NP_001191225;NP_001191226;NP_002447;P15941 Hs.89603 1680166;5021389 D1S3411;SHGC-12710 CA 15-3;CD227;EMA;H23AG;KL-6;MAM6;MCKD1;MUC-1;MUC-1/SEC;MUC-1/X;MUC1/ZD;PEM;PEMT;PUM DF3 antigen;H23 antigen;MUC-1;MUC-1/SEC;MUC-1/X;MUC1/ZD;OTTHUMP00000033786;OTTHUMP00000033787;OTTHUMP00000033788;OTTHUMP00000033789;OTTHUMP00000033790;OTTHUMP00000033791;OTTHUMP00000033792;OTTHUMP00000033793;OTTHUMP00000033794;OTTHUMP00000033795;breast carcinoma-associated antigen DF3;cancer antigen 15-3;carcinoma-associated mucin;episialin;krebs von den Lungen-6;mucin 1;mucin 1, transmembrane;mucin-1;peanut-reactive urinary mucin;polymorphic epithelial mucin;tumor associated epithelial mucin;tumor-associated epithelial membrane antigen;tumor-associated mucin APPROVED protein-coding ENSG00000185499 7508 01152 158340;174000 REVIEWED 735987 MUC2 mucin 2, oligomeric mucus/gel-forming This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 11 11 p15.5 1064902 1094419 + 1074875 1104417 + 1580863;2324651;2324948;2317985;2324868;2324889;2324675;2324887;2324683;2303607;2324672;2324685;5131178;5131426;6480464;6907045 15260848;11680592;12717243;15048136;19954814;19220658;17708554;16689826;19713473;12870797;11062147;9155717 12848848;19258923;19246635;19201396;19119477;18834073;18825309;18566135;18487999;18301248;18300795;18299935;18059019;18038313;18004654;18000536;17982272;17703412;17659847;17509526;17471237;17401217;17333267;17321686;17203232;17058067;16754877;16733847;16721789;16552339;16475027;16447040;16285957;16227528;16188033;16142311;15733066;15665513;15345696;15240568;15081123;15000151;14678781;14616551;14550542;14525978;21602660;12820724;12582180;12559945;12527922;12507512;12490305;12482999;12417297;12391274;12374798;12237307;12218214;12135769;12077118;11893907;11813869;11445551;10737800;10336486;9865718;9722984;9668061;9407109;9224654;9065467;8975711;8300571;7926500;7864825;2703501;2265829;2254452;1985113;1980995;1885763;1550588;1400449;12820725;17991319;19321523;19359471;19432394;19718741;19815850;20065027;20198318;20198339;20379614;20485009;20503287;20731025;20718712;17674761;20865330;20929551;20873538;21125297;21441843;23546879;21647207;21831773;21700631;22261707;21290483;21596555;21605079;22118674;22402132;22073249;21618511;20878553;21318237;22269464;22417007;22451922;22582780;20706999;22752373;23347460;23011828;23179399;22116730 4583 E7EUV1;H0Y2U6;H0Y317;Q02817 AA527400;ABBA01015222;ABBA01015223;ABBA01015224;ABBA01015225;ABBA01015226;ABBA01015227;AC139749;AF257165;AF257166;AF257167;AJ007575;AMYH01003298;AMYH01003299;AMYH01003300;AW054915;BG982960;BQ340542;CH471158;CV354692;DV080627;L21998;M22404;M22405;M57417;M74027;M86523;M94131;M94132;NM_002457;U67167;U68061 AAA36333;AAA36334;AAA59163;AAA59164;AAA59861;AAA59875;AAA63229;AAB95295;AAC51519;AAG18515;AAG18516;AAG18517;EAX02421;EAX02422;NP_002448;Q02817 Hs.315 1742527;1769176;2122535 D11S4619;GDB:197852;MUC2B MLP;MUC-2;SMUC MUC-2;OTTHUMP00000210640;intestinal mucin-2;mucin 2, intestinal/tracheal;mucin-2;mucin-like protein APPROVED protein-coding ENSG00000198788 7512 11828 158370 REVIEWED 5453552 MUC22 mucin 22 6 p21.33 30973729 31003179 + 19851445;20981447;21900946 100507679 E2RYF6 AB560770;AB600271;AB600272;ABBA01038067;AL663093;AL669830;AL805909;AMYH01016208;BX248321;BX927139;BX936457;BX942838;CR753812;CR759772;CR759964;CR762495;CT009610;CV572205;NM_001198815 BAJ24154;BAJ33462;BAJ33463;E2RYF6;NP_001185744 Hs.582967 1790849;5018894;7184123 C4_4_3;D6S2696 PBMUCL1 mucin-22;panbronchiolitis related mucin-like 1;panbronchiolitis-related mucin-like protein 1;protein PBMUCL1 protein-coding ENSG00000261272 39755 613917 VALIDATED 1347141 MUC3B mucin 3B, cell surface associated 7 7 q22 95598758 95608359 + 100332265 100397181 + 6480464 18163520;12958310;12853948;11289722;10973822;10512748;10405327;9334251;2393399 57876 Q7LDU4;Q9H195 AB038781;AB038783;AJ291390;AY307931;XM_003403554 AAQ73825;BAB12115;BAB12117;CAC19572;Q9H195;XP_003403602 Hs.744422 1788238;1788240;1789480;2136673 D7S3096;D7S3100;D7S3102;MUC3 MUC3;MUC3A MUC-3B;intestinal mucin MUC3B;intestinal mucin-3B;mucin 3b;mucin-3B protein-coding 13384 605633 736898 MUC3A mucin 3A, cell surface associated The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008] 7 7 q22 100389076 100398339 + 100549432 100611619 + 1580863;2324946;2324948;2303743;2303607;1625545;2325170;6480464 12657964;11680592;11576628;16689826;16964428;19032457 9847074;9334251;10405327;10512748;19365837;19365834;18834073;18790050;18163520;14550470;12958310;12853948;11289722;10973822;7778880;2393399;1362870;20510874 4584 H0Y6M1;J3QST7;Q9UKW9 AB038782;AB038784;ABBA01011356;ABBA01011357;AC105446;AC118759;AF007194;AF007195;AF007196;AF007197;AF113616;AF143371;AF143372;AF143373;AMYH01017747;AY307930;M55405;M55406;XM_001725354;XM_003403800;XM_003846410;XM_003960409 AAA63772;AAA63773;AAB84381;AAB84382;AAB84383;AAC02272;AAD45882;AAD45883;AAD45884;AAF13032;AAQ73824;BAB12116;BAB12118;Q02505;XP_001725406;XP_003403848;XP_003846458;XP_003960458 Hs.744422;Hs.744530 1788238;1789480;2136673 D7S3096;D7S3100;MUC3 MUC-3A;MUC3;mucin MUC-3A;OTTHUMP00000211364;intestinal mucin-3A;mucin 3;mucin 3, intestinal;mucin 3A, intestinal;mucin-3A APPROVED protein-coding 7513 158371 MODEL 1312511 MUC17 mucin 17, cell surface associated Membrane mucins, such as MUC17, function in epithelial cells to provide cytoprotection, maintain luminal structure, provide signal transduction, and confer antiadhesive properties upon cancer cells that lose their apical/basal polarization.[supplied by OMIM, Apr 2004] 7 7 q22.1 100450084 100488860 + 100663364 100702140 + 6480464 21393431;9299468;18834073;17990980;16737958;16341674;12888891;12477932;12027806;11855812;20211273;20065027;20702471;20926598;22970168;22990020 140453 E7EPM4;Q685J3 ABBA01011353;ABBA01011354;AC105446;AF016692;AF016693;AF016694;AF430017;AJ606307;AJ606308;AK026404;AMYH01017749;BC126315;BM768498;BM773519;BM987743;NM_001040105 AAB71685;AAB71686;AAB71687;AAI26316;AAL89737;CAE54435;CAE54436;NP_001035194;Q685J3 Hs.271819 1789514;2217650 D7S3177;MUC17_3074 MUC3 MUC-17;MUC-3;OTTHUMP00000211331;membrane mucin MUC17;mucin 17;mucin-17;secreted mucin MUC17;small intestinal mucin MUC3;small intestinal mucin-3 APPROVED protein-coding ENSG00000169876 16800 16335 608424 PROVISIONAL 1315110 MTX2 metaxin 2 The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009] 2 2 2 q31.1 170743298 170811933 + 176842383 176910999 + 177134123 177202753 + 1580863;6480464 10381257;17624330;17510655;15489334;14702039;12477932;17207965;20379614;20877624;22939629;21139048;21906983;22114354 10651 C9JAZ1;C9JNK6;F8WCW1;F8WE26;O75431;Q8IZ68 ABBA01062220;AC016739;AC073069;AF053551;AI991560;AK001287;AK289359;AK303564;AK315918;AMYH01011292;BC017271;BC067831;BC088359;BG699784;CH471058;NM_006554;NR_027850 AAC25105;AAH17271;AAH67831;AAH88359;AAX93188;AAY14795;ADQ31976;BAF82048;BAG50886;BAG64587;BAH14289;EAX11076;EAX11077;EAX11078;NP_006545;O75431 Hs.470728 2147280;5093608 A009S33;G32818 MGC111067 OTTHUMP00000163338;OTTHUMP00000205150;OTTHUMP00000205153;metaxin-2;mitochondrial outer membrane import complex protein 2 APPROVED protein-coding ENSG00000128654 7506 09777 608555 REVIEWED 1347084 MUC5B mucin 5B, oligomeric mucus/gel-forming This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010] 11 11 p15.5 1200872 1239982 + 1244295 1283406 + 1580863;2324948;2324986;2325214;5131169;5131193;5131194;5131252;5131192;5131191;6480464;7240710 11680592;7657125;19068094;18776153;11845304;11802783;17063754;17255563 1718282;19258923;19191526;19118346;18834073;18757307;18688042;17703412;17671696;17621824;17471237;16740002;16540890;16341674;16188033;15709052;15563276;14988081;14758553;22269464;14690056;12768436;12756239;12459324;11996097;11853536;11825880;11713095;11062147;10217161;9804771;9790959;9201995;9164870;9147051;9013550;8889548;8554565;7916618;7513696;9109822;22591690;22391959;19556605;19596978;19718741;19783639;20422702;20503287;23321605;23695349;21097527;20946627;17473699;17606809;17850213;17998215;18272164;18282555;18339669;18817906;19077699;19452580;19556293;20066894;20081098;20156260;20197185;20497020;20531251;20572857;22802285;21506741;21506748;21455588;20873538;21619869;21618303;23406586;21832046;21194732;21596555;21981454;22576636;23314748;20301408;23692170;17125499;9815215;23249391 727897 E9PBJ0;H0YDX8;Q7M4S5 AA577624;ABBA01012134;ABBA01012135;ABBA01012136;AC061979;AF086604;AF107890;AF253321;AJ004862;AK303892;AK310939;AMYH01003302;AMYH01003303;BM740816;BM796192;BM817984;CA450235;DC418119;NG_031880;NM_002458;S80993;U63836;U78550;U78551;U95031;X74370;X74954;X74955;X74956;Y09788;Z72496 AAB35930;AAB61398;AAB65151;AAC51342;AAC51343;AAC67545;AAF64523;AAG33673;BAG64826;CAA06167;CAA52408;CAA52909;CAA52910;CAA52911;CAA70926;CAA96577;NP_002449;Q9HC84 Hs.523395 1682255 RH93723 MG1;MUC-5B;MUC5;MUC9 MUC-5B;OTTHUMP00000233052;cervical mucin MUC5B;high molecular weight mucin;high molecular weight salivary mucin MG1;mucin 5, subtype B, tracheobronchial;mucin, salivary (high molecular weight);mucin-5 subtype B, tracheobronchial;mucin-5B;sublingual gland mucin APPROVED protein-coding ENSG00000117983 7516 178500;600770 REVIEWED 1351658 MUC15 mucin 15, cell surface associated 11 11 11 p14.3 26725946 26739174 - 26538428 26550356 - 26580579 26593815 - 6480464 18834073;17720698;16344560;15489334;12975309;12477932;12047385;8889548;19520792;19553259;17207965;22657408;21615302 143662 E9PII6;F8W945;Q8N387 ABBA01060981;AC036114;AJ417818;AJ507429;AK026790;AK128337;AMYH01003455;AY358668;BC020912;BC058007;BU676338;CH471064;DA842986;NM_001135091;NM_001135092;NM_145650 AAH20912;AAH58007;AAQ89031;ADQ32187;BAG54662;CAD10624;CAD45555;EAW68297;EAW68298;EAW68299;NP_001128563;NP_001128564;NP_663625;Q8N387 Hs.407152 1660766;1668872;1697210;1769744;1772162;1772958;2141072;2178114 A004R23;D11S4348;RH102097;RH16157;RH16467;RH35938;RH78143;SGC34286 MUC-15;PAS3;PASIII OTTHUMP00000231907;OTTHUMP00000231908;OTTHUMP00000231909;mucin-15 protein-coding ENSG00000169550 14956 16349 608566 VALIDATED 1353445 MUC6 mucin 6, oligomeric mucus/gel-forming The MUC6 gene encodes gastric mucin, a secreted glycoprotein that plays an essential role in epithelial cytoprotection from acid, proteases, pathogenic microorganisms, and mechanical trauma in the gastrointestinal tract (summary by Toribara et al., 1993 [PubMed 7680650]).[supplied by OMIM, Dec 2010] 11 11 p15.5 1002824 1026706 - 1012824 1036706 - 2325159;2325166;2325167;2324651;6480464 18410610;15998373;10209489;15260848 7680650;18834073;18825309;18360351;18300795;17982272;17471237;17401217;17227128;17009402;16807756;16554811;16475027;16447040;15979574;15716126;15280409;15081123;14702039;12360467;11988092;10330458;9422745;9195947;10673290;20602200;19423540;19682628;19855374;19924550;20139757;20406964;20438785;20506113;21490447;20929551;21193402;21851820;22402132;21596555;22261707;20878553;23054008;23163606 4588 E9PJC5;H0YDA7;H0YEZ6;Q6W4X9 ABBA01015219;ABBA01015220;ABBA01015221;AC139749;AK092533;AK096772;AK098503;AMYH01003297;AY312160;AY314024;AY370683;AY458429;AY500284;NM_005961;U97698 AAC51370;AAQ82434;AAQ86940;AAR14188;AAS13634;AAS76674;BAC04860;NP_005952;Q6W4X9 Hs.528432 MUC-6 MUC-6;OTTHUMP00000228589;gastric mucin-6;mucin 6, gastric;mucin-6 APPROVED protein-coding ENSG00000184956 7517 158374 VALIDATED 1347821 MUC8 mucin 8 12 q24.33 133049334 133050840 - 1580863 18952062;18834073;16188033;15966694;15615708;15330148;12842905;9070607;8002930;20564234;22521432 100129528 Q12964 ABBA01012389;AC079031;AMYH01004912;U14383 AAA58346 Hs.592357 2142504 G26698 mucin 8, tracheobronchial protein-coding 7519 601932 MODEL 1606083 MUC21 mucin 21, cell surface associated 6 6 6 p21.32 32549597 32555047 + 31059474 31065654 + 30951485 30957675 + 6480464 17977904;16344560;14702039;12975309;12477932;20388707;19851445;21801394;21841780;23263863;23284291 394263 Q5SQA0;Q6UXC5 AB242595;ABBA01038067;AK056612;AK298642;AK301645;AK316363;AL663093;AL669830;AL773541;AMYH01016208;AY358415;BC105735;BC105736;BC105737;BC107478;CH471081;CR759747;CR759772;CR759964;CT009610;DA763771;HM596784;NM_001010909 AAI05736;AAI05737;AAI05738;AAI07479;AAQ88781;ADJ96647;BAF92842;BAG60817;BAG63124;BAH14734;EAX03353;NP_001010909;Q5SSG8 Hs.448277 1790851;2220222;7184124 D6S2697;D6S2945 C6orf205;KMQK697;MGC125609;MUC-21;bCX31G15.2 MUC-21;OTTHUMP00000063722;epiglycanin;mucin-21 protein-coding ENSG00000204544 21661 16665 VALIDATED 737024 MUC5AC mucin 5AC, oligomeric mucus/gel-forming 11 11 p15.5 1169363 1178940 + 1142474 1162465 + 2324990;4145454;2324986;2324954;2324890;2324651;2324948;2324973;2324968;2324907;2325129;2317984;2324889;2324987;2324887;2325168;2324916;5131431;5131205;2314537;2324962;5131204;4145655;5131207;5131190;5131191;6480464 14508831;20696593;7657125;19415319;8143972;15260848;11680592;11425202;11956390;10227724;19377061;14654947;19954814;16124042;17708554;16842244;18475301;20525715;15130904;19154443;17590487;17698377;17637221;14680076;19723147;17255563 22269464;10611155;14749330;19258923;19201889;19201815;19059885;18978302;18848467;18834073;18825309;18782768;18782111;18676374;18539955;18424749;18300795;18285671;18283638;18167142;18166592;18163520;18073139;18027866;18006877;17982272;17891046;17703412;17659847;17646388;17621824;17565737;17555715;17543073;17471237;17401217;17395013;17356062;17333267;17330845;17321686;17237423;17227128;17203232;17148666;16787389;16722930;16596179;16552336;16540890;16500622;16475027;16465045;22391959;16251127;16188033;16148149;16142316;16142311;15640347;15563276;15531749;15235131;14988081;14535999;14527933;12972643;12820724;12690113;12652076;12527922;12477932;12417511;12391274;12360467;12042033;11992401;11988092;11919081;11535137;11445551;11181995;11062147;9620876;16409634;21092491;9588204;9506983;8948439;7826332;7775418;7513696;12507512;12135769;21275604;21300824;19856421;20362698;18201532;20216230;17991319;19141355;19168703;19266212;19394453;19501047;19556605;19596978;19671252;19718656;19718741;19789190;19841186;19841867;19924550;20117097;20422702;20485009;20503287;20731025;20734208;20338103;20713760;20972463;22748473;22798432;23084780;21139981;21197415;18254322;21249315;21146919;21097527;19558858;20709182;20929551;22441738;20953890;21455588;20639461;20464982;21502330;21348892;21287531;21512244;21362305;21622856;22275269;22676183;21685325;21418911;21418859;21697763;21131736;22239058;22303480;20368025;21211365;21773870;21815153;21857919;21998660;22348416;23113953;21556755;22261707;22078291;21544845;22297031;22389405;22500101;22610099;22213337;22388989;23292004;22700966;23249391;23252568 4586 E9PGF7;E9PJ98;Q8WWQ3 AADC01095577;AADD01112371;ABBA01015228;ABBA01015229;ABBA01015230;AC139749;AF015521;AF016834;AF043909;AJ001402;AJ001403;AJ298317;AJ298318;AJ298319;AL833060;AMYH01024419;AP006588;BC033831;CH471158;U06711;X81649;XM_003119481;XM_003403450;XM_003959934;XM_003960483;XM_003960847;XM_003960863;Z34276;Z34277;Z34278;Z34279;Z34280;Z34281;Z34282;Z48314 AAA18431;AAC15950;AAC15951;AAC19168;AAH33831;CAA04737;CAA04738;CAA57309;CAA84030;CAA84031;CAA84032;CAA84033;CAA84034;CAA84035;CAA84036;CAA88307;CAC83674;CAC83675;CAC83676;CAH56330;EAX02424;EAX02425;P98088;XP_003119529;XP_003403498;XP_003959983;XP_003960532;XP_003960896;XP_003960912 Hs.534332;Hs.558950;Hs.721515 1685015;2136603 MUC5AC;RH11428 MUC5;TBM;leB MUC-5AC;TBM;gastric mucin;leB;lewis B blood group antigen;major airway glycoprotein;mucin 5, subtypes A and C, tracheobronchial/gastric;mucin 5, subtypes a and c;mucin 5AC, oligomeric mucus/gel-forming pseudogene;mucin-5 subtype AC, tracheobronchial;mucin-5AC;tracheobronchial mucin protein-coding 7515 158373 MODEL 1312550 MUC20 mucin 20, cell surface associated This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The shorter isoform expressed by this gene is localized to the plasma membrane, whereas the longer isoform might be secreted. The C terminus of this protein associates with the multifunctional docking site of the met proto-oncogene and suppresses activation of some downstream met signaling cascades. The protein features a tandem repeat domain that varies between 2 and 6 copies in most individuals. The allele represented in the human reference assembly contains 12 copies. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 3 3 3 q29 193751858 193757111 + 196933424 196950211 + 195447753 195464540 + 1580863;6480464 12477932;15314156;18834073;16508246;16029633;15342556;14702039;14565953;12975309;10737800;10718198;8889548 200958 C9JJE7;E9PH32;H7C102;Q8N307 AB037780;AB098731;AB098733;ABBA01018423;AC069513;AC233280;AK027314;AK075138;AK298316;AK311504;AMYH01013789;AY358449;BC029267;BC044243;BF883124;BM697386;BM721408;BM986861;BP352469;BU685426;CH471052;DC348309;NM_001098516;NM_152673 AAH29267;AAH44243;AAQ88814;ADZ15457;BAA92597;BAB55035;BAC11428;BAD06718;BAD06720;BAH12755;EAW78022;NP_001091986;NP_689886;Q8N307 Hs.308992 1657283;1760559;2160979;5022200;5022578;5022588;5024413;5037552 D1S1423;D5S1597E;D8S2279;L17877;L18426;RH48099;RH48112;SHGC-143979 FLJ14408;FLJ53153;KIAA1359;MUC-20 OTTHUMP00000208733;OTTHUMP00000208735;mucin-20;transmembrane mucin MUC20S 1643250 BW134_H APPROVED protein-coding ENSG00000176945 23282 17615 610360 REVIEWED 735893 MUC4 mucin 4, cell surface associated The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] 3 3 q29 196959307 197023545 - 195473636 195538844 - 1580863;2303602;2303743;2303607;2303746;2324946;2324921;2324944;2324927;2324929;2324916;2324931;2324942;2324922;2324890;2324914;2324891;2324923;5131208;5131258;6480464 19082442;11576628;16689826;10918186;12657964;18397823;14752841;17079945;16857800;18475301;16274046;16049287;17595659;8143972;20303649;11751498;17406026;17126950;11596032 18492726;18381409;18008338;17891050;17703412;17621592;17592322;17553805;17292332;17058067;17037983;16914178;16891313;16880776;16814944;16807280;16799633;16779668;16690615;16624867;16475027;16344560;16329125;16302265;16266293;16007204;15897748;15672420;15461591;15184872;14744777;14690056;12748185;12732353;12495942;12477932;12434309;12386815;12153560;12102554;12084055;11925450;11727258;11687512;11598901;11062147;10880978;9858486;9620877;8245407;7745080;10024507;10920259;18029348;19288496;19258923;19236510;19127263;19010895;18834073;18781152;18665193;18573283;1673336;1351710;22105367;22757586;21349170;21415703;20423995;20432461;20697346;19757157;19188823;19738614;20065027;20503287;21072847;20591909;22791819;23544943;21615302;21647207;21983127;21728842;21889495;22580602;23053434;22393391;21618516;20922503;22318606;22614008;23152882;22644656;22982887 4585 A0T3F4;E7ENC5;E7EQG8;E7EQT2;E7ERK0;E7ETT5;E7EUL9;E7EW47;E7EWN1;E9PDY6;H0Y2Y1;H7BXN7;H7BZI3;Q9NY76 ABBA01018423;ABBA01018424;ABBA01018425;ABBA01018426;AC069513;AC233280;AF058803;AF058804;AF177925;AF522055;AJ000281;AJ000282;AJ010901;AJ242541;AJ242542;AJ242543;AJ242544;AJ242545;AJ242546;AJ242547;AJ242548;AJ242549;AJ242550;AJ276359;AJ277412;AJ277505;AJ400633;AJ400849;AJ400850;AJ400851;AJ400852;AJ400853;AJ400854;AJ400855;AJ400856;AJ400857;AJ400858;AJ430032;AK307054;AMYH01013789;AW190850;BC131770;BX957139;DB227644;EF091824;M64594;NM_004532;NM_018406;NM_138297 AAA63230;AAC34750;AAC34751;AAD53171;AAM66747;ABK78776;CAA03985;CAB38059;CAB81773;CAB85597;CAB85598;CAB85599;CAB85600;CAB85601;CAB85602;CAB85603;CAB85604;CAB85605;CAB85606;CAC10061;CAC10062;CAC14134;CAC14135;CAC14136;CAC14137;CAC14138;CAC14139;CAC14140;CAC14141;CAC14142;CAC14143;CAC14585;CAD22550;NP_004523;NP_060876;NP_612154;Q99102 Hs.369646 1336654;1763093;2217652;7186890 D3S1265;MUC4_1560;SHGC-146829 ASGP;HSA276359;MUC-4 ASGP;MUC-4;OTTHUMP00000208747;OTTHUMP00000208748;OTTHUMP00000216675;OTTHUMP00000216676;OTTHUMP00000216679;ascites sialoglycoprotein;mucin 4;mucin 4, tracheobronchial;mucin-4;pancreatic adenocarcinoma mucin;testis mucin;tracheobronchial mucin 1643250 BW134_H APPROVED protein-coding ENSG00000145113 7514 11829 158372 REVIEWED 1606746 MUCL1 mucin-like 1 12 12 q 53534566 53538444 + 55248299 55252177 + 6480464 19221791;18497056;18269587;16720387;15880534;15684711;15489334;15340161;15096563;12975309;12477932;12019145;10737800;20364301 118430 F8VV13;Q96DR8 ABBA01008377;AC117496;AF414087;AI905624;AMYH01004490;AY359062;AY651259;BC111421;CH471054;CS488886;NM_058173 AAI11422;AAL02119;AAQ89421;AAT72303;CAM55960;EAW96795;NP_477521;Q96DR8 Hs.348419 SBEM OTTHUMP00000242195;OTTHUMP00000242199;mucin-like protein 1;small breast epithelial mucin protein-coding ENSG00000172551 30588 17290 610857 VALIDATED 1606650 MURC muscle-related coiled-coil protein This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013] 9 9 9 q31.1 73853560 73863400 + 102380157 102390001 + 103340336 103350180 + 6480464 18508909;18332105;12477932;8889549;19546242;23272181;21832049;21642240;22505724 347273 Q5BKX8 AA192639;AA446953;ABBA01042885;AK128238;AK300099;AL354917;AMYH01021572;BC090888;EU487253;NG_033273;NM_001018116 AAH90888;ACA62935;BAG61900;NP_001018126;Q5BKX8 Hs.733374;Hs.99004 2108577;2155791;2170843;2170845;2181992;5022322;5024761 A007J17;D11S2560;RH36905;RH47334;RH47356;SHGC-57355;TMEFF1_8835 CAVIN4;cavin-4 OTTHUMP00000215932;muscle-related coiled-coil protein;muscle-restricted coiled-coil protein protein-coding ENSG00000170681 33742 18599 REVIEWED 1344843 MUC7 mucin 7, secreted This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene.[provided by RefSeq, Feb 2009] 4 4 q13.3 71372525 71383303 + 71296209 71348714 + 1580863;6480464;7240710 15501816;15489334;14702039;12766201;12507512;12477932;12459324;12417297;12135769;16203048;18029348;19258923;19247692;18834073;17703412;16778149;16759176;16514118;16344560;15731026;11996097;11378823;9538010;9363439;8838308;7690757;20946627;19423540;19820409;20406964;20438785;20503287;21529783;22706105;21647207;22167029;23002673 4589 D6RHX1;Q8TAX7 ABBA01022928;AC106884;AC108518;AK093828;AK312855;AMYH01014278;BC025688;BX537739;BX647190;BX648903;CH471057;DB194707;DB199851;DB206328;DQ157434;L13283;NG_012348;NM_001145006;NM_001145007;NM_152291 AAH25688;ABM85003;EAX05621;NP_001138478;NP_001138479;NP_689504;Q8TAX7 Hs.631946 1720769;2122750 G59358;SHGC-14753 DKFZp686J03256;FLJ27047;MG2;MGC34772 MUC-7;OTTHUMP00000160365;OTTHUMP00000219138;apo-MG2;mucin 7, salivary;mucin-7;salivary mucin-7 APPROVED protein-coding ENSG00000171195 7518 11759 158375;600807 REVIEWED 1318053 MUM1 melanoma associated antigen (mutated) 1 19 19 19 p13.3 1289298 1312710 + 1306010 1329427 + 1354976 1378430 + 6480464 16344560;14702039;12477932;11042152;8889548;7644523;21145461;21424034;20347427;21623692;21903680;21569705;21890473;22158496;22169641;19322201;21720545 84939 J3KNX4;J3KQD6;K7END0;K7EP97;K7ES53;Q2TAK8 ABBA01002641;AC004623;AC005329;AF151045;AK025936;AK027774;AK075241;AK309092;AK310721;AL360266;AMYH01009245;AMYH01009246;BC001806;BC008098;BC019585;BC021016;BC082987;BC110874;BC130443;BC144138;BC144147;BG723598;BI553935;BQ071619;BQ895780;BU541563;BU741593;CH471139;CR457395;DA739708;DN993266;NM_032853;NR_024247;U20896;U20897;U20908 AAC50238;AAC50239;AAC50240;AAF36131;AAH08098;AAH82987;AAI10875;AAI30444;AAI44139;BAB15287;BAB55357;BAC11493;CAB96179;CAG33676;EAW69509;EAW69511;EAW69512;EAW69513;EAW69514;NP_116242;Q2TAK8 Hs.515016 1672278;1846594;1852537;2118303;2132312 A005Z47;RH15936;RH48232;RH69253;SGC30849 EXPAND1;FLJ14868;FLJ22283;HSPC211;MGC131891;MGC163315;MUM-1 PWWP domain-containing protein MUM1;melanoma ubiquitous mutated protein;mutated melanoma-associated antigen 1;protein expandere protein-coding ENSG00000160953 29641 14789 VALIDATED 1606503 MUL1 mitochondrial E3 ubiquitin protein ligase 1 1 1 p36.12 20698530 20707241 - 20825941 20834674 - 6480464 12761501;18213395;18207745;18591963;18082624;16710414;16381901;16189514;15489336;15489334;14702039;12477932;11256614;11230166;11076863;19060904;19407830;18029348;20877624;19690564;20860623;21597459;21987572;20619655;22410793;21139048;21890473;21906983 79594 Q969V5 AB097015;ABBA01059781;AK022937;AK293430;AK303820;AL391357;AL833889;AMYH01000322;BC010101;BC014010;CH471134;CQ871304;EU935008;NM_024544 AAH10101;AAH14010;ACH72645;BAB14317;BAC77368;BAG56935;BAH14060;CAD38745;CAH56833;CAL38209;CAL38566;EAW94926;EAW94927;EAW94928;EAW94929;NP_078820;Q969V5 Hs.10101 1664230;2116847;2167506;2171976 D1S1766E;D1S2547;SHGC-31990;SHGC-74330 C1orf166;FLJ12875;GIDE;MAPL;MULAN;RNF218;RP11-401M16.2 E3 SUMO-protein ligase MUL1;E3 ubiquitin ligase;E3 ubiquitin-protein ligase MUL1;OTTHUMP00000002880;growth inhibition and death E3 ligase;mitochondria-anchored protein ligase;mitochondrial E3 ubiquitin ligase 1;mitochondrial ubiquitin ligase activator of NF-kB;mitochondrial ubiquitin ligase activator of NFKB 1;mitochondrial-anchored protein ligase;putative NF-kappa-B-activating protein 266;ring finger protein 218 APPROVED protein-coding ENSG00000090432 25762 07799 612037 VALIDATED 731781 MUSK muscle, skeletal, receptor tyrosine kinase This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] 9 9 q31.3-q32 112470960 112603099 + 113431051 113563278 + 633425;1580863;2317084;6480464;7240710 7546737;17081697 16487930;18567856;18567855;18384168;18378885;18165682;17661994;17192614;17012237;16857268;16794080;15691710;15496425;15159418;12885777;12477932;11754179;10878022;10477765;9136771;8653786;8274451;20371544;16917026;17576800;19327804;19745065;19949040;20974278;21969364;20596523;21993075;22424883;20301347;21386774;22210232;22939624;23326516;23386860 4593 O15146;Q5T0B5;Q5VZW9 AA448972;ABBA01042744;ABBA01042745;ABBA01042746;ABBA01042747;AF006464;AL157881;AL513328;AMYH01021633;AMYH01021634;AMYH01021635;AMYH01021636;AMYH01021637;AMYH01021638;BC109098;BC109099;BG825304;CH471105;NG_016016;NM_001166280;NM_001166281;NM_005592;Z25436 AAB63044;AAI09099;AAI09100;ACE87789;ACE87790;ACT64447;CAA80923;EAW59065;EAW59066;EAW59067;NP_001159752;NP_001159753;NP_005583;O15146 Hs.521653 2114930;2156706 D10S1235;SHGC-11655 MGC126323;MGC126324 OTTHUMP00000021899;OTTHUMP00000021900;muscle, skeletal receptor tyrosine-protein kinase;muscle-specific kinase receptor;muscle-specific tyrosine-protein kinase receptor APPROVED protein-coding ENSG00000030304 7525 03190 601296;608931 REVIEWED 1349980 MUM1L1 melanoma associated antigen (mutated) 1-like 1 This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] X X X q22.3 105886895 105927546 + 105307975 105339604 + 105412298 105452949 + 6480464 18029348;15772651;15489334;14702039;12477932;15146197;16344560;21139048;21906983 139221 Q5H9M0 AA412505;ABBA01018854;ABBA01018855;ABBA01018856;ABBA01018857;AK056478;AK090835;AL135922;AMYH01022815;BC031229;BC109292;BC109293;CH471120;CN369699;DA720504;DB445635;NG_016639;NM_001171020;NM_152423;Z68289 AAH31229;BAB71194;BAC03529;EAX02743;EAX02744;NP_001164491;NP_689636;Q5H9M0 Hs.592221 1855557;1856799 AL008891;STS-AA034405 FLJ33516;MGC129994;MGC129995 MUM1-like protein 1;OTTHUMP00000023780;OTTHUMP00000023781;PWWP domain-containing protein MUM1L1;mutated melanoma-associated antigen 1-like protein 1 APPROVED protein-coding ENSG00000157502 26583 06555 REVIEWED 1352078 MUSTN1 musculoskeletal, embryonic nuclear protein 1 3 3 3 p21.1 52845956 52848039 - 52842177 52844260 - 52867131 52869235 - 6480464 17519359;22087225;12477932;14718386;21926972;23263486 389125 C9JYJ2;D6R8Y8;H0Y8I9;Q8IVN3 ABBA01024498;AC099667;AJ276556;AMYH01013188;BC130550;BC130552;BX089772;CB043913;CR990075;NG_016006;NM_205853 AAI30551;AAI30553;ADR83456;CAC81756;NP_995325;Q8IVN3 Hs.556077 1784854;2148851;2158820 D3S3371;SHGC-156028;WI-12546 DKFZp686G21125;Mustang OTTHUMP00000213872;OTTHUMP00000218921;musculoskeletal embryonic nuclear protein 1;musculoskeletal temporally activated novel protein-coding ENSG00000243696 22144 14790 VALIDATED 1323679 MUS81 MUS81 structure-specific endonuclease subunit 11 11 q13 65384448 65390490 + 65627872 65633914 + 1580863;6480464;6907045 19363487;19124506;19017809;18852298;18841572;18413719;18310322;18054789;17934473;17903171;17555773;16456034;16344560;15805243;15489334;14702039;14638871;14617801;12721304;12686547;12477932;12374758;11741546;11073977;8125298;21240275;22902628;19394292;21187482;19714462;20610542;19595721;19596235;19596236;20522537;20800603;21175991;21859861;17289582;22123861;21858151;22410776;23093618;23361013 80198 E9PII7;E9PL60;E9PRI1;H0YDE3;H0YDK3;H0YDU2;H0YE94;Q53ES5;Q96NY9 ABBA01024098;AF425646;AK024665;AK095326;AK126820;AK223564;AL353934;AMYH01003727;AP001201;AP001266;BC009999;BI816797;CH471076;DA449863;NM_025128 AAH09999;AAL28065;BAB14953;BAD97284;BAG54375;CAH56369;EAW74453;EAW74454;NP_079404;Q96NY9 Hs.288798 1682217;1724695;2114485;2114524;2123360;2148752;2159266 D11S2297E;IB1075;RH122549;RH27343;RH36142;STS-R09524;WI-18484 FLJ21012;FLJ44872;SLX3 MUS81 endonuclease homolog;OTTHUMP00000233867;OTTHUMP00000233868;OTTHUMP00000233869;OTTHUMP00000233949;SLX3 structure-specific endonuclease subunit homolog;crossover junction endonuclease MUS81;mus81 endonuclease homolog (yeast) APPROVED protein-coding ENSG00000172732 29814 09419 606591 VALIDATED 1344450 MUT methylmalonyl CoA mutase This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008] 6 6 p12.3 49506950 49538990 - 49398073 49431041 - 1580863;6480464;6907045;7240710 16344560;2567699;19088183;18940555;17957493;17728257;17597648;17445044;17410422;17401587;17113806;16641088;16281286;15781192;15643616;15489334;14718574;14654360;14574404;12477932;12402345;11528502;11350191;10923046;9554742;9503014;9285782;9242908;8990001;7912889;7909321;6124211;6102092;2907507;2881300;2453061;1980486;1977311;1670635;1351030;1346616;24458;19806564;20031578;20876572;20800603;20852008;20877624;21138732;17966092;21604717;20186120;20301409;23045948;23311430 4594 B2R6K1;P22033 AB208845;ABBA01050592;AK292568;AK312611;AL590668;AMYH01016339;BC016282;BT007434;BX647789;CA444307;CH471081;DA777441;DB290266;M37510;M65131;NG_007100;NM_000255 AAA59569;AAA99226;AAH16282;AAP36102;BAD92082;BAF85257;BAG35498;EAX04329;EAX04330;EAX04331;NP_000246;P22033 Hs.485527 1679465;1699432;1744141;1855604;2108271;2120719;2120721;2129980;2153573;2172353;5015917;5016574;5120796 A002A07;G19840;GDB:375093;GDB:375109;GDB:391899;GDB:607719;MUT_8484;RH103307;RH17726;RH70345;RH75687;SHGC-35796;WI-20050 MCM OTTHUMP00000016578;methylmalonyl Coenzyme A mutase;methylmalonyl-CoA isomerase;methylmalonyl-CoA mutase, mitochondrial APPROVED protein-coding ENSG00000146085 7526 02014 251000;609058 REVIEWED 1604253 MVB12A multivesicular body subunit 12A 19 19 19 p13.11 17432663 17437892 + 17391912 17397140 + 17530912 17536140 + 6480464;6907045 16895919;15489334;14702039;12477932;20654576;21832049;21139048;21906983;17853893;19531213;18029348;18005716;22232651 93343 E9PJW8;E9PLL0;E9PLZ8;E9PPW1;E9PQA6;M0QZK6;Q96EY5 ABBA01051200;AC010319;AK057057;AK289487;AMYH01009573;BC007883;BC011840;CH471106;NM_138401 AAH07883;AAH11840;BAF82176;EAW84604;EAW84605;NP_612410;Q96EY5 Hs.515243 1659608;2144333 RH46896;STS-T53469 CFBP;FAM125A;FLJ32495 CIN85/CD2AP family binding protein;CIN85/CD2AP family-binding protein;ESCRT-I complex subunit MVB12A;OTTHUMP00000232348;OTTHUMP00000232350;OTTHUMP00000232351;family with sequence similarity 125, member A;multivesicular body subunit 12A APPROVED protein-coding ENSG00000141971 25153 14298 PROVISIONAL 731074 MUTYH mutY homolog (E. coli) This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p34.1 45567501 45578729 - 45794914 45806142 - 1600191;1600201;1580863;6480464;6907045;7240710 11818965;15273732 22469746;10583946;11801590;7823963;19531215;19527492;19394335;19338676;19307499;19300419;19279422;19245865;19161591;19032956;19029194;19000687;18980800;18848840;18823566;18811933;18776649;18612690;18564191;18534194;18515411;18503156;18495334;18454351;18422726;18383848;18301448;18298557;18294051;18271935;18186383;18172263;18155253;18091433;18027849;18022921;17956577;17949294;17931073;17920897;17703316;17674103;17505512;17489848;17417778;17252231;17220334;17219385;17219200;17207658;17203305;17081686;17039270;17031395;16941501;16938257;16890597;16804517;16774938;16773329;16710414;16645203;16609022;16600130;16557584;16521226;16492928;16408224;16292541;16287072;16134146;16042573;15943555;15931596;15890374;15761860;15690400;15673720;15635083;15523092;16831587;15489334;15450125;15449173;15366000;15290654;15236166;15188161;15146197;15034862;14999774;14991577;14961129;12966098;12853198;12807753;12707038;12606733;12477932;12393807;12056405;11805113;11554314;11092888;10684930;10471731;9611236;8682794;3196692;3032244;20418187;19672709;19399402;20625837;20640893;20725929;20848659;16169070;18029348;19443904;19593690;19620482;19685280;19692168;19732775;19793053;19820168;19836313;19902366;19932167;19953527;20110747;20149637;20150366;20191381;20226869;20364408;20453000;20522537;20628285;20724227;20843780;20570909;20571908;20574454;20618354;20687945;20877624;20924072;20939750;21044966;21061173;21063410;21112374;21287799;21171015;22641385;22926731;21355073;20924129;21279954;21615992;22469480;22851115;21424714;21962078;22103048;21826668;22865608;23396182;20663686;21777424;22473953;23561487;21846783;22126480;21901162;22266422;21952991;21900687;22371070;22678362;22744763;23007840;23499241;22297469;22780951;23035301;22053931 4595 E5KP25;E5KP26;E5KP27;E5KP28;E9PI11;E9PIW5;E9PKM9;E9PLT4;E9PM53;E9PMH1;E9PNY0;E9PP30;E9PP34;G8JLP0;H0YCA8;H0YCY5;H0YEI2;H0YER6;Q5T413;Q5T418;Q9UIF7 AB025227;AB032920;AB032921;AB032922;AB032923;AB032924;AB032925;AB032926;AB032927;AB032928;AB032929;AB048788;ABBA01050882;ABBA01050883;AF527839;AK293830;AL359540;AL560568;AMYH01000572;BC003178;BM926983;CH471059;CN413115;HQ205466;HQ205468;HQ205469;HQ205470;HQ205472;HQ205473;HQ205474;HQ205475;HQ205476;HQ205477;HQ205479;HQ205480;HQ205481;HQ205482;HQ205483;HQ205484;HQ205485;HQ205486;HQ205487;HQ205488;HQ205489;HQ205490;HQ205491;HQ205492;HQ205493;HQ205494;HQ205495;HQ205496;HQ205497;HQ205498;HQ205499;HQ205500;HQ205501;HQ205502;HQ205503;HQ205505;NG_008189;NM_001048171;NM_001048172;NM_001048173;NM_001048174;NM_001128425;NM_012222;U63329 AAC50618;AAH03178;AAM78555;ADP90934;ADP90935;ADP90936;ADP90937;ADP90938;ADP90944;ADP90945;ADP90946;ADP90947;ADP90948;ADP90949;ADP90950;ADP90951;ADP90952;ADP90953;ADP90954;ADP90955;ADP90956;ADP90957;ADP90958;ADP90964;ADP90965;ADP90966;ADP90967;ADP90968;ADP90969;ADP90970;ADP90971;ADP90972;ADP90973;ADP90974;ADP90975;ADP90976;ADP90977;ADP90978;ADP90979;ADP90980;ADP90981;ADP90982;ADP90983;ADP90984;ADP90985;ADP90986;ADP90987;ADP90988;ADP90989;ADP90990;ADP90991;ADP90992;ADP90993;ADP90999;ADP91000;ADP91001;ADP91002;ADP91003;ADP91004;ADP91005;ADP91006;ADP91007;ADP91008;ADP91009;ADP91010;ADP91011;ADP91012;ADP91013;ADP91014;ADP91015;ADP91016;ADP91017;ADP91018;ADP91019;ADP91020;ADP91021;ADP91022;ADP91023;ADP91024;ADP91025;ADP91026;ADP91027;ADP91028;ADP91029;ADP91030;ADP91031;ADP91032;ADP91033;ADP91034;ADP91035;ADP91036;ADP91037;ADP91038;ADP91039;ADP91040;ADP91041;ADP91042;ADP91043;ADP91044;ADP91045;ADP91046;ADP91047;ADP91048;ADP91049;ADP91050;ADP91051;ADP91052;ADP91053;ADP91054;ADP91055;ADP91056;ADP91057;ADP91058;ADP91059;ADP91060;ADP91061;ADP91062;ADP91063;ADP91064;ADP91065;ADP91066;ADP91067;ADP91068;ADP91069;ADP91070;ADP91071;ADP91072;ADP91073;ADP91074;ADP91075;ADP91076;ADP91077;ADP91078;ADP91079;ADP91080;ADP91081;ADP91082;ADP91083;ADP91084;ADP91085;ADP91086;ADP91087;ADP91088;ADP91089;ADP91090;ADP91091;ADP91092;ADP91093;ADP91094;ADP91095;ADP91096;ADP91097;ADP91098;ADP91099;ADP91100;ADP91101;ADP91102;ADP91103;ADP91104;ADP91105;ADP91106;ADP91107;ADP91108;ADP91109;ADP91110;ADP91111;ADP91112;ADP91113;ADP91114;ADP91115;ADP91116;ADP91117;ADP91118;ADP91119;ADP91120;ADP91121;ADP91122;ADP91123;ADP91129;ADP91130;ADP91131;ADP91132;ADP91133;BAA84104;BAA89336;BAA89337;BAA89338;BAA89339;BAA89340;BAA89341;BAA89342;BAA89343;BAA89344;BAA89345;BAB86886;BAG57233;EAX06991;EAX06992;EAX06993;EAX06994;EAX06995;EAX06996;EAX06997;EAX06998;EAX06999;EAX07000;EAX07001;NP_001041636;NP_001041637;NP_001041638;NP_001041639;NP_001121897;NP_036354;Q9UIF7 Hs.271353 5096347 RH71246 CYP2C;MGC4416;MYH A/G-specific adenine DNA glycosylase;OTTHUMP00000009096;OTTHUMP00000009097;OTTHUMP00000009098;OTTHUMP00000009099;OTTHUMP00000009100;OTTHUMP00000009101;OTTHUMP00000009102;OTTHUMP00000009103;hMYH APPROVED protein-coding ENSG00000132781 7527 05380 132600;137215;604933;608456;613659 REVIEWED 736074 MVD mevalonate (diphospho) decarboxylase The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008] 16 16 q24.3 87245849 87256996 - 88718348 88729495 - 1580863;1300048;2316857;6480464;6907045 16876788 12736493;8626466;18823933;18660489;15489334;12646231;12477932;8769113;16169070;11792727;14680974;14972328;9270019;19913121;20628086;22863883;21139048;21906983;22505724 4597 H3BP35;H3BQ47;H3BRZ1;H3BVC4;P53602 AB209229;ABBA01015843;AC116552;AMYH01007912;AY203927;BC000011;BT006930;CH471184;NM_002461;U49260 AAC50440;AAH00011;AAP34450;AAP35576;ABM84650;ABM92179;BAD92466;EAW66790;EAW66791;EAW66792;NP_002452;P53602 Hs.252457 1725663;2109537;2137167;5016781 G62102;MVD_8513;SHGC-67307;STS-U49260 FP17780;MPD MDDase;OTTHUMP00000175197;diphosphomevalonate decarboxylase;mevalonate pyrophosphate decarboxylase;mevalonate pyrophosphate decarboxylase APPROVED protein-coding ENSG00000167508 7529 04454 603236 REVIEWED 1320196 MVB12B multivesicular body subunit 12B The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 9 9 9 q33.3 99743357 99922950 + 128128949 128309140 + 129089123 129269320 + 6480464;6907045 16344560;8889548;15489334;14702039;12477932;11214971;20583170;20654576;17207965;17895996;18005716;20379614;21890473;22232651;23251661 89853 B7Z4X0;F8W922;G8JLL7;Q9H7P6 ABBA01043809;ABBA01043810;ABBA01043811;ABBA01043812;AC006443;AJ420437;AK000001;AK024432;AK024441;AK293740;AK298023;AK307473;AMYH01021716;BC000122;BC028675;BC036326;BC041601;CH471090;CK300748;DA339911;NG_029787;NM_001011703;NM_033446 AAH28675;ADQ32584;BAA92226;BAB15722;BAB15731;BAH11585;BAH12706;EAW87639;EAW87640;NP_001011703;NP_258257;Q9H7P6 Hs.162659 1338966;1665881;1701348;1738279;1738919;1759489;1767545;2114307;2116749;2176204;2182269 1314;D3S3187;D9S1798;D9S315;IB578;RH104304;RH11731;RH70084;SHGC-150833;STS-N68722;WI-15136 C9orf28;FAM125B;FLJ00001 ESCRT-I complex subunit MVB12B;OTTHUMP00000022151;OTTHUMP00000022152;chromosome 9 open reading frame 28;family with sequence similarity 125, member B;multivesicular body subunit 12B APPROVED protein-coding ENSG00000196814 23368 12952 REVIEWED 732031 MVK mevalonate kinase This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q24 108496000 108519450 + 110011500 110035071 + 1600528;1580863;1300048;2316857;6480464;6907045;7240710 1377680;16876788 16189514;10369261;19487539;19148283;19060906;18941711;18660489;18512793;18494797;18302342;18193043;17978300;17213252;16806233;16234278;15536479;15489334;15188372;15037710;14749336;14730012;14702039;12634869;12477932;12477733;12444096;11313769;11313768;11111075;10417275;10401001;10369262;9464248;9392419;9325256;9146921;8302606;6255462;1356376;20159775;20864672;18029348;20714348;20972250;14680974;19605566;20160193;20194276;20430392;20814828;20677014;21124859;22983302;21147848;21430599;21548022;22863883;22939629;21139048;22271696;21044950;20686565;16732551;22038276;22159817 4598 B2RDU6;B7Z1C2;F5GXC0;F5H092;F5H163;F5H368;F5H8H2;Q03426 AB209722;ABBA01005069;AC007570;AF033345;AF217535;AF217536;AK023087;AK293130;AK295338;AK315678;AMYH01004737;BC016140;CH471054;DC421549;FJ515860;M88468;NG_007702;NM_000431;NM_001114185 AAB59362;AAF82406;AAF82407;AAH16140;ABM82015;ABM85197;ACS13750;ACS13751;BAD92959;BAG38043;BAH11458;BAH12037;EAW97870;EAW97871;EAW97872;EAW97873;NP_000422;NP_001107657;Q03426 Hs.130607 1657042;1685107;1686676;1796372;2164189 A001U02;MVK_377;RH35869;RH92084;STS-N30046 FLJ96772;LRBP;MK;MVLK;POROK3 LH receptor mRNA-binding protein;OTTHUMP00000240572;OTTHUMP00000240575;mevalonate kinase;mevalonate kinase 1 APPROVED protein-coding ENSG00000110921 7530 02015 175900;251170;260920;610377 REVIEWED 1351646 MXRA1 matrix-remodelling associated 1 54594 7535 732476 MVP major vault protein This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 16 16 p11.2 29731591 29766842 + 29831715 29859360 + 6480464 7585126;18972317;18671966;18615555;18600231;18599112;18200595;17875533;17615361;17438350;17415755;17337707;17178862;17134750;16815308;16614510;16566920;16441665;16418217;16396496;16373071;15902504;15709737;15592455;15588985;15489334;15379935;15272088;15133037;14695705;14636345;12919388;12622134;12612883;12576456;12477932;12177006;11986944;11986335;11940320;11937269;11855821;11297743;11071864;10551828;10477748;10439368;10404077;9628887;9029166;8879378;8774142;8763338;7671223;15750632;22261339;20555386;19875192;16344560;19969624;21044367;18809583;19615260;18029348;19080004;19335069;19472297;19660100;15952572;22939629;22863883;22391170;21344396;21829365;22040803;22586326;21139048;21890473;21906983;22235652;22117969;21793937;21683962;15994960;21988832;22931894;23000965;23178631 9961 B4DVL1;H3BNF2;H3BNF6;H3BP76;H3BPZ2;H3BQE7;H3BQK6;H3BRL2;H3BUK7;H3BUP3;I3L155;Q14764 ABBA01013117;AC009133;AC120114;AJ238509;AJ238510;AJ238511;AJ238512;AJ238513;AJ238514;AJ238515;AJ238516;AJ238517;AJ238518;AJ238519;AJ291365;AJ291366;AJ291367;AK293302;AK298238;AK301130;AK302052;AK310168;AMYH01007495;BC008932;BC015623;BM999583;BQ932800;BU151678;CH471238;DA842337;DA940597;NM_005115;NM_017458;X79882 AAH15623;ABM87351;ABW03877;BAG56823;BAG60505;BAG62723;BAG63442;CAA56256;CAB55354;CAB55355;CAC35313;CAC35314;CAC35316;EAW79979;EAW79980;EAW79981;EAW79982;EAW79983;EAW79984;EAW79985;EAW79986;EAW79987;NP_005106;NP_059447;Q14764 Hs.632177 1678673;1854457;7184855 D16S3210;D16S383;RH68580 LRP;VAULT1 OTTHUMP00000045913;lung resistance-related protein;major vault protein APPROVED protein-coding ENSG00000013364 7531 05475 605088 REVIEWED 1348886 MXRA2 matrix-remodelling associated 2 54593 7536 1350968 MXRA3 matrix-remodelling associated 3 54592 7537 1348274 MXRA4 matrix-remodelling associated 4 54591 7538 1353561 MX1 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) In mouse, the interferon-inducible Mx protein is responsible for a specific antiviral state against influenza virus infection. The protein encoded by this gene is similar to the mouse protein as determined by its antigenic relatedness, induction conditions, physicochemical properties, and amino acid analysis. This cytoplasmic protein is a member of both the dynamin family and the family of large GTPases. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2009] 21 21 q22.3 41720024 41753008 + 42792520 42831141 + 1580863;6480464;6907045 2154602;15757897;9389754;16780588;19434718;19297326;19236454;19177264;19109387;18843779;18782441;18676680;18668195;18549400;17947524;17845304;17570575;17374778;17307214;17177148;17126411;17075576;16978069;16894313;16843495;16824203;16792864;16769349;16595158;16459719;16390004;16344560;16168514;15850793;15766558;15602733;15489334;15221897;15163707;15135736;15117331;15063762;15047845;14872030;14752052;14702039;14687945;12944978;12867637;12595530;12539042;12477932;16704297;12447867;11916975;11911186;11847228;11805446;11716541;10971132;10830953;10590150;9735310;9093949;9060610;8798556;8125298;2607176;2481229;2161946;1674496;1629950;1548781;14499622;17407708;20428112;20959021;19170196;19462904;19625176;19625466;19635103;19692168;19744071;19817957;20019841;20237496;20331378;20462354;20921509;20588308;20628624;20494980;20603636;21166595;20309637;23115279;23152507;21832049;23015724;21859714;21900240;21962493;22340769;21906983;21935451;21992152;22507598;16009940;16202617;22531919;23232524;23382691;21645334;21918813;22647704;22714910;22950423;23084925;23160781 4599 C9JZS6;F8W8T1;H9KVC3;H9KVC4;H9KVC7;H9KVC9;H9KVD0;H9KVD3 A00209;ABBA01044663;AC005612;AF135187;AK093008;AK096355;AK225885;AK315465;AL163285;AL773570;AL773577;AL773578;AMYH01012263;AP001610;AY186254;BC014222;BC032602;BC052255;CH471079;DA351922;DA726666;EB388095;L35664;L35666;L35669;L35671;L35672;L35673;M30817;M33882;NG_027788;NM_001144925;NM_001178046;NM_002462 AAA36337;AAA36458;AAD43063;AAH14222;AAH32602;AAO31807;ADZ15946;BAC04017;BAG37852;BAG53272;CAA00041;CAB90556;EAX09600;EAX09601;EAX09602;EAX09603;EAX09604;NP_001138397;NP_001171517;NP_002453;P20591 Hs.517307 1338345;1658682;1741767;1742139;1759429;1771308;1792568;1794006;1794008;1794582;1797890;2150175;2158253;5017853;5022588 D21S1260;D5S1597E;GDB:185157;GDB:192322;MX1;MX1_1629;PMC154027P2;PMC310729P8;PMC310729P9;PMC321570P12;RH70302;SHGC-2323;SHGC-5964;SHGC-6908;SHGC-87654 IFI-78K;IFI78;MX;MxA OTTHUMP00000109248;OTTHUMP00000109249;OTTHUMP00000109250;interferon inducible protein p78;interferon-induced GTP-binding protein Mx1;interferon-induced protein p78;interferon-regulated resistance GTP-binding protein MxA;myxoma resistance protein 1;myxovirus resistance protein 1 APPROVED protein-coding ENSG00000157601 7532 00919 147150 REVIEWED 1626570 MXRA5P1 matrix-remodelling associated 5 pseudogene 1 Y Y Y q11.21 1049802 1081211 + 12587814 12619384 + 14077883 14109289 + 12815422 286544 ABBA01065703;ABBA01065704;ABBA01065705;ABBA01065706;ABBA01065707;ABBA01065708;ABBA01065709;AC011302;NG_002806 1677965;1777868;2133879 DYS271;DYS391;RH98596 ADLICANP;MXRA5P APPROVED pseudo 23932 INFERRED 1353608 MXD1 MAX dimerization protein 1 This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 2 2 p13-p12 69995707 70023581 + 70142173 70170077 + 6480464 10229200;8425218;7829091;18029348;18203738;18155722;17998413;17082780;15815621;15489334;12824180;12553908;12538578;12477932;11602341;11430826;11031250;9528857;9150134;9150133;8290278;7889570;11230181;10918583;12391307;11101889;15235594;11106735;10593926;11370785;12366697;15282543;15645079;17418410;17577784;18451027;19766114;16140957;18457265;19526459;19762557;16596619;10551834;8224841;23112173;20547842;18082613;21832049;22318606 4084 B7ZLI7;C9JBE8;F8WBI0;Q05195 ABBA01075517;AC019206;AK301088;AK312734;AMYH01010423;BC036402;BC051693;BC069377;BC069433;BC098396;BC113531;BC117260;BC143831;BC143832;BC144601;CH471053;CR536495;CR541692;DB445256;DC347823;L06895;NM_001202513;NM_001202514;NM_002357 AAA36194;AAH69377;AAH69433;AAH98396;AAI13532;AAI17261;AAI43832;AAI43833;AAY14867;ADR83500;BAG35605;BAH13406;CAG38734;CAG46493;EAW99838;EAW99839;NP_001189442;NP_001189443;NP_002348;Q05195 Hs.468908 1743215;1777838;2108225;2135095;2146558 D2S2554;GDB:303985;MAD_8449;RH68991;RH78840 MAD;MAD1;MGC104659;bHLHc58 MAD protein (MAX-binding protein);MAX-binding protein;OTTHUMP00000160049;OTTHUMP00000202211;antagonizer of myc transcriptional activity;max dimerization protein 1;max dimerizer 1 APPROVED protein-coding ENSG00000059728 6761 02487 600021 REVIEWED 736546 MXI1 MAX interactor 1, dimerization protein Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008] 10 10 q24-q25 111957353 112037113 + 111967363 112047123 + 1298988;1600205;1600204;1580863;6480464;7240710 10849326;10470286;7773287 11351349;8425219;9624006;19254710;19018165;19010793;17697116;17577784;17452451;17102621;16126174;15809730;15476185;15467743;15164054;15121849;14559981;12477932;11875718;11498788;10497252;9669667;9528857;8918230;8889548;8838813;8290278;7959753;7954804;7889571;7789959;16189514;10593926;10229200;9184233;16385451;18457265;7565735;15548375;21832049;20946988;21937719;21987572 4601 B1ANN8;F6U3F6;F6WCI9;P50539 AA640393;AA854855;ABBA01063032;ABBA01063033;ABBA01063034;AI373426;AI580132;AK303949;AK307090;AK309718;AL360182;AL538051;AMYH01003060;AMYH01003061;AMYH01003062;AW291670;AY576484;BC012907;BC016678;BC035128;BF056857;BG700036;BM668806;BM927870;BQ924073;BT007069;BX417051;CB960506;CF594363;CH471066;CR536576;D63940;NG_012103;NM_001008541;NM_005962;NM_130439;S78470;U32512;U32513;U32514;U32515 AAC50446;AAD14282;AAH12907;AAH35128;AAP35732;AAT84074;ABM82590;ABM85777;BAA09972;BAG64876;CAG38813;EAW49565;EAW49566;EAW49567;EAW49568;EAW49569;EAW49570;NP_001008541;NP_005953;NP_569157;P50539 Hs.602078;Hs.744063 1714757;1718765;1725579;1729673;1743211;1743213;1755465;1771321;1791264;1856714;2111015;2116930;2123581;2169036 D10S173;D10S479E;G15973;G62013;GDB:303956;GDB:303982;MARC_9667-9668:996688506:1;RH120044;RH123073;RH17603;RH46377;SHGC-142331;SHGC-58233;WI-9336 MAD2;MGC43220;MXD2;MXI;bHLHc11 MAX dimerization protein 2;Max-related transcription factor;OTTHUMP00000020465;OTTHUMP00000020466;OTTHUMP00000020467;OTTHUMP00000020468;OTTHUMP00000020469;OTTHUMP00000020470;OTTHUMP00000020471;OTTHUMP00000020472;OTTHUMP00000020473;class C basic helix-loop-helix protein 11;max interacting protein 1;max-interacting protein 1 APPROVED protein-coding ENSG00000119950 7534 02486 176807;600020 REVIEWED 1351068 MX2 myxovirus (influenza virus) resistance 2 (mouse) The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008] 21 21 q22.3 41655820 41702739 + 42733950 42780869 + 1580863;6480464 2481229;2154602;8798556;19236454;18517045;17702266;15489334;14702039;12477932;10830953;9405443;9208807;3162334;20237496;20331378;18029348;19913121;20628086;20494980;21906983;21983787;15184662 4600 B7Z5D3;C9J9T4;C9JEL4;C9JS04;C9JZQ9;P20592 ABBA01044663;AC004497;AC004508;AK122952;AK127895;AK298780;AK308060;AL163285;AL773578;AMYH01012263;AY312582;BC035293;CH471079;M30818;M33883;NM_002463 AAA36338;AAA36459;AAC08448;AAC08451;AAH35293;ABM83042;ABM86237;BAH12869;CAB90555;EAX09605;EAX09606;EAX09607;NP_002454;P20592 Hs.926 1660173;1742121;1794004;1796374;2177564;2177566;5017853 D21S1826;G34721;GDB:191983;MX1;MX2_216;PMC310729P7;STS-M30818 MXB OTTHUMP00000109242;interferon-induced GTP-binding protein Mx2;interferon-regulated resistance GTP-binding protein MXB;myxovirus resistance protein 2;p78-related protein;second interferon-induced protein p78 APPROVED protein-coding ENSG00000183486 7533 01001 147890 REVIEWED 1353240 MXRA6 matrix-remodelling associated 6 12477932 54589 Q7Z2G4;Q7Z2S0 AF172820;AF173897;AF176917;BC063142 AAQ13614;AAQ13644;AAQ13661;Q7Z2G4;Q7Z2S0 Hs.471381 DKFZp586K0617;MST091;MST122;MST127;MSTP091;MSTP122;MSTP127 protein-coding 7540 734323 MXD3 MAX dimerization protein 3 This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008] 5 5 5 q35.3 171762037 171768860 + 176666817 176671487 - 176732501 176739292 - 6480464 16341674;18235219;17893326;16908182;22808009;16189514;15489334;14702039;12477932;9506959;8521822;8125298;9184233;10918583;10593926;10229200;9528857;21987572;21906983;22703881;23251661 83463 B4E0J1;D6RD21;D6RED4;Q9BW11 ABBA01033458;AC146507;AF114834;AK057034;AK092842;AK222579;AK303397;AK316468;AL522759;AL833959;AMYH01015872;BC000745;BC032586;BC041690;BM849150;BU620484;CH471195;NM_001142935;NM_031300 AAH00745;AAH32586;AAP97233;ABM83660;ABM86907;ABM87212;BAB71352;BAC03987;BAD96299;BAG64453;BAH14839;CAD38809;EAW85016;EAW85017;EAW85018;EAW85019;EAW85020;NP_001136407;NP_112590;Q9BW11 Hs.743332 1682039;2144299;5019557;5126215 G09547;G54137;RH69707;STS-N94309 BHLHC13;FLJ35523;MAD3;MGC2383;MYX Max-associated protein 3;Max-interacting transcriptional repressor MAD3;OTTHUMP00000161446;OTTHUMP00000223594;OTTHUMP00000223595;OTTHUMP00000223596;OTTHUMP00000223598;class C basic helix-loop-helix protein 13;max dimerization protein 3;max dimerizer 3 APPROVED protein-coding ENSG00000213347 14008 14791 609450 REVIEWED 1344277 MXRA5 matrix-remodelling associated 5 This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010] X X X p22.33 7506768 7545904 - 3236606 3274681 - 3226606 3264684 - 6480464 22696596;22808956;15609104;15489334;15203218;12477932;12101425;21906983 25878 Q9NR99 ABBA01038677;ABBA01038678;ABBA01038679;ABBA01038680;ABBA01038681;ABBA01038682;AC004616;AF245505;AL049946;AMYH01022017;AMYH01022018;BC011846;BC064986;BC080586;CD626974;CH471074;NG_021336;NM_015419 AAF86402;AAH11846;AAH64986;AAH80586;CAB43220;EAW98724;NP_056234;Q9NR99 Hs.369422 1677965;1733566;5022790 DXS6779;MXRA5;RH98596 DKFZp564I1922 OTTHUMP00000022860;adhesion protein with leucine-rich repeats and Immunoglobulin domains related to perlecan;adlican;matrix-remodeling-associated protein 5 APPROVED protein-coding ENSG00000101825 7539 06456 REVIEWED 1312919 MXD4 MAX dimerization protein 4 This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 2161509 2176088 - 2218958 2233537 - 2249160 2263739 - 1580863;6480464 8521822;16167342;15862967;15815621;15489334;15469726;14702039;12477932;12418961;11230181;10593926;11073985;10229200;9528857;21906983;21963094;21988832;22895069 10608 D6RGV1;H0Y8Z5;Q14582 ABBA01029515;ABBA01029516;ABBA01029517;AF040963;AF082740;AF187724;AK024501;AK026392;AL158068;AMYH01013874;AMYH01013875;BC002713;BC028340;BC068060;BT019969;BT019970;CH471131;NM_006454;Z49250;Z68282 AAB97009;AAF98553;AAH02713;AAH68060;AAQ13695;AAV38772;AAV38773;BAB15791;CAA89217;EAW82530;EAW82531;EAW82532;EAW82533;EAW82534;EAW82535;EAW82536;NP_006445;Q14582 Hs.655020 1774992;1856070;2110585;2143091 G22538;MXD4__6182;SHGC-59766;SHGC-59834 MAD4;MST149;MSTP149;bHLHc12 Mad4 homolog;OTTHUMP00000115253;class C basic helix-loop-helix protein 12;max dimerization protein 4;max dimerizer 4;max-associated protein 4;max-interacting transcriptional repressor MAD4 APPROVED protein-coding ENSG00000123933 13906 10103 REVIEWED 6481454 MYB-AS1 MYB antisense RNA 1 100873904 AL023693 MYB-AS;MYBAS;NCRNA00209;RP1-32B1.3 APPROVED miscrna 37457 1346231 MXRA8 matrix-remodelling associated 8 1 1 1 p36.33 1288229 1294826 + 1277934 1283778 - 1288071 1293915 - 6480464 14702039;14603461;12975309;12477932;8125298;21555518;23000965 54587 B3KTR6;Q9BRK3 AB052096;ABBA01016033;ABBA01016034;AK027269;AK095966;AK225028;AK293442;AK304615;AK315510;AL050202;AL139287;AMYH01000131;AMYH01000132;AY358391;BC006213;BC017312;CH471183;CS373734;NM_032348 AAH06213;AAH17312;AAQ88757;BAB55010;BAD05132;BAG53178;BAG56945;BAG65397;CAL33853;EAW56220;EAW56221;EAW56222;EAW56223;NP_115724;Q9BRK3 Hs.515687 1697992 RH102525 DKFZp586E2023;MGC3047 OTTHUMP00000003098;OTTHUMP00000003099;OTTHUMP00000003100;limitrin;matrix-remodeling-associated protein 8 protein-coding ENSG00000162576 7542 11330 PROVISIONAL 1605571 MYADML myeloid-associated differentiation marker-like (pseudogene) 2 2 2 p22.3 33789838 33791994 - 33804632 33806778 - 33951128 33953284 - 16344560;14702039;12477932;22116950 151325 ABBA01074909;AC093393;AK057470;AMYH01010242;BC031088;BC038980;CH471053;DB059579;NR_003143 AAY24031;BAB71502;EAX00429 Hs.528847 2103318 stSG605612 APPROVED pseudo ENSG00000239649 31019 14793 VALIDATED 2303467 MYADML2 myeloid-associated differentiation marker-like 2 17 17 17 q25.3 76501561 76509155 - 77490222 77498400 - 79897521 79905109 - 6480464 12477932;11181995;8889548 255275 A6NDP7 ABBA01019654;ABBA01019655;AC137723;AC145207;AMYH01008724;BC029306;BM674638;CH471099;NM_001145113 A6NDP7;EAW89727;NP_001138585 Hs.729645 OTTHUMP00000205585;myeloid-associated differentiation marker-like protein 2 protein-coding ENSG00000185105 34548 VALIDATED 1348883 MXRA7 matrix-remodelling associated 7 17 17 17 q25.1 71264179 71299424 - 72183404 72218651 - 74671809 74707056 - 6480464 16625196;15489334;14702039;12477932;21139048;21906983;19322201 439921 K7EPS4;K7EQX8;P84157;Q6ZR64 ABBA01028731;ABBA01028732;ABBA01028733;ABBA01028734;AC005837;AK097108;AK123486;AK127801;AK128460;AMYH01008647;AW131567;AW888225;AY426672;AY646229;BC053983;BC094776;BC094872;BE205810;BE502793;CA422561;CB993617;CH471099;NM_001008528;NM_001008529;NM_198530 AAH53983;AAR88426;AAT66918;BAC87451;EAW89425;EAW89426;EAW89427;EAW89428;NP_001008528;NP_001008529;NP_940932;P84157 Hs.250723;Hs.597019;Hs.707692 1650478;1661857;1681853;1689272;1700376;5015881;5015961;5016478;5017170;5022450;5022588 Bda94c06;D10S275;D15S1477;D17S2160;D5S1597E;GDB:335751;GDB:434012;L29953;RH103808;RH65098;RH94020 FLJ41492;FLJ46603;PS1TP1;TMAP1 HBV PreS1-transactivated protein 1;matrix-remodeling-associated protein 7;transmembrane anchor protein 1 protein-coding ENSG00000182534 7541 18199 VALIDATED 1353717 MYADM myeloid-associated differentiation marker 19 19 19 q13.42 51410687 51420740 + 59061423 59071501 + 54369611 54379689 + 1302485;1580863;6480464 10733104 17097684;16303743;15900300;15489334;15146197;14702039;12975309;12477932;12075932;21325632;23264465;21139048;19322201 91663 C9J5M0;C9JC07;C9JJV6;C9JZL8;Q96S97 ABBA01068190;AC008440;AF087882;AI074232;AK027693;AK075276;AK093999;AK294400;AK316566;AL357205;AMYH01009967;AX775819;AY037147;AY358582;BC013995;BC095412;CH471135;CN277531;CN284532;CQ783403;CQ859714;NM_001020818;NM_001020819;NM_001020820;NM_001020821;NM_138373 AAH13995;AAH95412;AAK67628;AAP97182;AAQ88945;BAB55302;BAC04265;BAC11513;BAG38155;BAG57653;CAE11609;CAF86608;CAH25907;EAW72159;EAW72160;NP_001018654;NP_001018655;NP_001018656;NP_001018657;NP_612382;Q96S97 Hs.380906 1799804;1803008;1804948;1820540;1823124;1823752;1827314;1832342;1833368;1840106;1842982;1844226;1845846;1849388;2103308;2103310;2103312;2103314;2103316;2103318;2131907;2154312;2167606;2169654 A006V21;ECD00756;ECD02395;ECD03413;ECD11345;ECD12650;ECD12968;ECD14772;ECD17310;ECD17827;ECD21237;ECD22699;ECD23326;ECD24142;RH11539;RH48536;RH68540;WI-17997;stSG605605;stSG605606;stSG605609;stSG605610;stSG605611;stSG605612 SB135 OTTHUMP00000067222;OTTHUMP00000067223;OTTHUMP00000067224;OTTHUMP00000067225;OTTHUMP00000067285;OTTHUMP00000067286;OTTHUMP00000197721;myeloid upregulated protein;myeloid-associated differentiation marker protein-coding ENSG00000179820 7544 14792 609959 VALIDATED 1349179 MYB v-myb avian myeloblastosis viral oncogene homolog This gene encodes a transcription factor that is a member of the MYB family of transcription factor genes. The protein contains three domains, an N-terminal DNA-binding domain, a central transcriptional activation domain and a C-terminal domain involved in transcriptional repression. This protein plays an essential role in the regulation of hematopoiesis and may play a role in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 6 6 q22-q23 135544146 135582003 + 135502453 135540311 + 1580863;6480464;6484113 15082531;16799563;2189102;3014652;19427836;19198610;19148297;19036881;18818702;18818396;18765672;18667698;18667440;18498763;18476782;18408764;18195038;18093978;18070937;17712044;17690249;17670747;17599807;17452517;17435759;17363689;17242210;17095623;16977606;16861354;16797705;16631597;16597594;16461764;16299810;15927960;15778089;15747776;15687240;15509555;15489334;15221349;15187020;15169551;12927788;12631292;12529244;12477932;12424255;12370369;12196545;11973331;11896618;11848471;11792321;11781241;11779867;11313925;10747903;10656693;10378697;10318867;10233885;9823328;9809063;9566892;9447996;8960373;8756344;8329139;8302594;8302584;7784067;7688794;7584027;3540945;3007038;2687764;2202948;1944282;10660576;10619021;11423988;15194430;15308626;15691758;22439866;18708755;21261996;21738478;20027603;20484083;20622260;20547751;20364308;23398943;11244510;15209511;17077080;19615744;19646965;19696200;19737967;19820697;19843942;19860791;19862010;20093773;20142358;20183929;20472475;16055500;19841262;18945670;20211142;20647765;20927387;21068433;20524209;20686118;21164292;19853236;19913121;20531406;20628086;20816195;21376705;20802522;20702610;21205891;11585920;20659323;21338522;21190594;11073948;14761981;22764095;21385855;21296997;17344210;20604807;21469677;21364958;21046410;21795403;21618541;21590770;21853052;19421138;22039304;21572406;21953443;21901247;21177182;22739149;22110127;21976542;22431717;22391450;21833088;22423221;22101269;22025269;21960247;22910413;22880131;20195357;21890473;21988832;22853316;23043469;23251661;23263863;23505388;22505724;22516378;22936743;22139419;22505352 4602 E9PIW4;E9PJ96;E9PJF1;E9PJT2;E9PKZ3;E9PLN0;E9PMQ0;E9PMZ0;E9PN43;E9PN92;E9PNH6;E9PP87;E9PPL8;E9PPR4;E9PQQ2;F8W8G5;H0YCN6;P78525;Q14025;Q708E3;Q708E6;Q708E9 ABBA01025842;ABBA01025843;AF104863;AJ606317;AJ606318;AJ606319;AJ606320;AJ606321;AJ606322;AJ606323;AJ606324;AJ616235;AJ616791;AJ616792;AJ616793;AJ616794;AJ616795;AJ616796;AJ616797;AJ616801;AJ616802;AJ616805;AL023693;AMYH01016693;AY787443;AY787444;AY787445;AY787446;AY787447;AY787448;AY787449;AY787450;AY787451;AY787452;AY787453;AY787454;AY787455;AY787456;AY787457;AY787458;AY787459;AY787460;AY787461;AY787462;AY787463;AY787464;AY787465;AY787466;AY787467;AY787468;AY787469;AY787470;AY787471;AY787472;AY787473;AY787474;AY787475;BC035996;BC064955;CH471051;D25774;FB659824;GU324928;HH970061;M13665;M13666;M15024;M95584;NG_012330;NM_001130172;NM_001130173;NM_001161656;NM_001161657;NM_001161658;NM_001161659;NM_001161660;NM_005375;U22376;X17469;X52125;X52126 AAA52030;AAA52031;AAA52032;AAA72118;AAB49034;AAB49035;AAB49036;AAB49037;AAB49038;AAB49039;AAC96326;AAH64955;ADL14499;CAA35503;CAA36371;CAA36372;CAE55168;CAE55169;CAE55170;CAE55171;CAE55172;CAE55173;CAE55174;CAE55175;CAE82649;CAF04477;CAF04478;CAF04479;CAF04480;CAF04481;CAF04482;CAF04483;CAF04484;CAF04485;CAS01767;CBX51725;EAW47967;EAW47968;EAW47969;EAW47970;EAW47971;EAW47972;EAW47973;EAW47974;EAW47975;EAW47976;EAW47977;EAW47978;NP_001123644;NP_001123645;NP_001155128;NP_001155129;NP_001155130;NP_001155131;NP_001155132;NP_005366;P10242 Hs.606320 1710570;1752051;1792322;1793276;1796376;2119728;2143985;2147115;2153008;5015961;5022322;5037552 D11S2560;D15S1477;D6S1431;D6S1837;D8S2279;MYB_951;PMC140821P4;PMC20354P3;RH18093;RH71005;SHGC-106007;SHGC-82387 Cmyb;c-myb;c-myb_CDS;efg OTTHUMP00000017258;OTTHUMP00000017259;OTTHUMP00000234268;OTTHUMP00000234319;OTTHUMP00000234320;OTTHUMP00000234321;OTTHUMP00000234322;OTTHUMP00000234323;OTTHUMP00000234392;OTTHUMP00000234393;OTTHUMP00000234397;OTTHUMP00000234399;OTTHUMP00000234401;OTTHUMP00000234408;OTTHUMP00000234411;OTTHUMP00000234412;OTTHUMP00000234413;OTTHUMP00000234414;OTTHUMP00000234429;OTTHUMP00000234431;OTTHUMP00000234432;c-myb protein (140 AA);c-myb10A_CDS;c-myb13A_CDS;c-myb14A_CDS;c-myb8B_CDS;proto-oncogene c-Myb;transcriptional activator Myb APPROVED protein-coding ENSG00000118513 7545 01810 189990 REVIEWED 1315840 MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1 8 8 8 q22 63467407 63518475 - 67636968 67687729 - 67474410 67525480 - 1580863;6480464;6484113 8058310;18029348;12477932;7987850;7821437;3060855;2065336;10660576;9210395;16055500;21890473;17531812;20360068;23633565 4603 E7EWZ1;P10243 ABBA01041872;ABBA01041873;AC083928;AK308490;AMYH01018773;BC101186;BC101187;BC101188;CH471068;CN482561;NM_001080416;NM_001144755;S75881;X13294;X66087 AAB32716;AAI01187;AAI01189;CAA31656;CAA46886;EAW86912;EAW86913;NP_001073885;NP_001138227;P10243 Hs.445898 1658089;1701534;1731931;1769576;2108273;2128640;2153172;2181532 D8S578;G10655;MYBL1_8486;RH104400;SHGC-12833;SHGC-59950;SHGC-60149;SHGC-60159 A-MYB;AMYB;MGC120059;MGC120061 OTTHUMP00000226958;OTTHUMP00000226959;OTTHUMP00000228217;myb-like protein 1;myb-related protein A;v-myb avian myeloblastosis viral oncogene homolog-like 1;v-myb myeloblastosis viral oncogene homolog-like 1 APPROVED protein-coding ENSG00000185697 7547 159405 VALIDATED 1323136 MYBPC2 myosin binding protein C, fast type This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012] 19 19 q13.33 55627972 55661395 + 50936160 50969583 + 1580863;6480464 12477932;8375400;18817784;18201573;17876814;12386147;12154082;9252413;8889549;19913121;20628086;20605413;20740642;21628590;17081983 4606 Q14324 AA086285;ABBA01068321;ABBA01068322;ABBA01068323;AC020909;AMYH01009939;BC130536;BC136389;CF552888;CF553029;CH471135;NG_028026;NM_004533;X73113 AAI30537;AAI36390;ADR83290;CAA51544;EAW71865;EAW71866;NP_004524;Q14324 Hs.85937 1331586 D19S246 MGC163408;MYBPC;MYBPCF C-protein, skeletal muscle fast isoform;fast MyBP-C;fast-type muscle myosin-binding-protein C;myosin-binding protein C, fast-type APPROVED protein-coding ENSG00000086967 7550 01184 160793 REVIEWED 1351602 MYBPC1 myosin binding protein C, slow type This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 12 12 q23.2 100512878 100603789 + 101988709 102079658 + 1580863;6480464 8375400;1429890;16918501;16407297;16381901;16003462;15489336;14702039;12628722;12477932;12154082;11256614;11230166;11076863;9252413;8889549;7757816;3011605;15385448;21061152;21426302;20045868;20379614;16501887;19913121;20628086;16052631;22610851;15203218;15342556;16344560;15840729;16335786 4604 A8KAB1;B3KPP3;F8VZE0;F8VZY0;F8W1Z9;G3V1V7;G3XAE8;G3XAI7;Q86TA8 AA196860;ABBA01053239;AC010205;AC090671;AC117505;AK056587;AK057284;AK292976;AK295727;AK296681;AK303401;AL589595;AL596726;AL831993;AL832000;AL832332;AL832350;AL832354;AL832456;AL834249;AMYH01004702;AMYH01004703;BC015187;BC030980;BC065720;BC092418;BC117217;BC143495;BC143502;BC143503;BC143504;BP232990;BQ942432;BX499532;BX500247;BX649073;CD614901;CH471054;DA433791;F01203;NG_031912;NM_001254718;NM_001254719;NM_001254720;NM_001254721;NM_001254722;NM_001254723;NM_002465;NM_206819;NM_206820;NM_206821;X66276;X73114 AAH65720;AAH92418;AAI17218;AAI43496;AAI43503;AAI43504;AAI43505;ACE86664;ACE87348;BAF85665;BAG51755;BAG58568;BAG59277;BAH13954;CAA46987;CAA51545;CAD38625;CAD38925;CAD89907;CAD89927;CAD91144;CAD91150;CAD91153;CAH56129;CAL37612;EAW97663;EAW97664;EAW97665;EAW97666;EAW97667;EAW97668;EAW97669;EAW97670;EAW97671;EAW97672;NP_001241647;NP_001241648;NP_001241649;NP_001241650;NP_001241651;NP_001241652;NP_002456;NP_996555;NP_996556;NP_996557;Q00872 Hs.654589 1672889;1683054;1721139;1736202;1736232;1746273;1768605;1858335;5022606;5091750;5106346;5109721 A004I28;D12S1149E;D12S1151E;D12S1162E;D12S1171E;D12S1963;G35330;G59404;G64621;RH65715;RH91854;STS-X66276 LCCS4;MYBPCC;MYBPCS;slow-type C-protein, skeletal muscle slow isoform;OTTHUMP00000243375;OTTHUMP00000243376;OTTHUMP00000243377;OTTHUMP00000243378;OTTHUMP00000243379;OTTHUMP00000243380;OTTHUMP00000243381;OTTHUMP00000243382;OTTHUMP00000243383;OTTHUMP00000243384;OTTHUMP00000243385;OTTHUMP00000243386;OTTHUMP00000243635;myosin-binding protein C, slow-type;skeletal muscle C-protein;slow MyBP-C APPROVED protein-coding ENSG00000196091 7549 01185 160794;614335;614915 REVIEWED 69133 MYBBP1A MYB binding protein (P160) 1a 17 17 p13.3 4388940 4405430 - 4442191 4458681 - 6480464 22339894;10644447;19276281;18660489;18059336;17196614;17081983;16964243;16565220;15635413;15489334;15302935;14744933;14702039;14676191;12477932;12429849;12171929;11790298;11779876;11230166;9447996;8889548;8302594;17353931;21145461;22645127;10607837;16413759;17255935;19928837;20085707;20177074;19321449;21297583;16603771;20211142;23129390;21386990;21252943;21182205;21832049;22939629;17314511;20810990;12777385;19596686;20360068;22686419;21963094;22751105;23056166;19471022;21139048;21531708;21693764;21890473;21906983;21907836;22147730;22586326;18029348;23388179;21471221;23209159;23455922;23583237;22174317;22505724;22952844 10514 I3L1L3;I3L2H8;I3L311;Q9BQG0 ABBA01054770;AC118754;AF147709;AK095205;AK293458;AK301622;AK303150;AK307948;AL133098;AL136595;AMYH01008037;AY093673;BC000641;BC050546;BF111023;CB243989;CH471108;DC346952;NM_001105538;NM_014520 AAF33021;AAH00641;AAH50546;AAM44451;ACE87675;BAG56953;BAG63107;BAG64253;CAB61409;CAB66530;EAW90435;EAW90436;EAW90437;NP_001099008;NP_055335;Q9BQG0 Hs.22824;Hs.701718 1645250 STS-AA009738 FLJ37886;P160;PAP2 OTTHUMP00000115937;myb binding protein 1a;myb-binding protein 1A;p53-activated protein-2 protein-coding ENSG00000132382 7546 05349 604885 VALIDATED 1606910 MYBPHL myosin binding protein H-like This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 1 1 1 p13.3 108104352 108119032 - 109636510 109651186 - 109834987 109849663 - 6480464 12477932 343263 A2RUH7;B7ZME5 ABBA01068377;AK129834;AL390252;AMYH01000930;BC108664;BC132900;BC132902;BC144471;CH471122;NG_032757;NM_001010985;NM_001265613 A2RUH7;AAI32901;AAI32903;AAI44472;ADR83131;EAW56378;EAW56379;NP_001010985;NP_001252542 Hs.443402 1853043 SHGC-75267 OTTHUMP00000013793;myosin-binding protein H-like APPROVED protein-coding ENSG00000221986 30434 17616 REVIEWED 6481169 MYCBP2-AS1 MYCBP2 antisense RNA 1 13 77649649 77661911 + 11329013 100874212 ABBA01021660;AC001226;AL359257;AMYH01005222;BG208820;NR_046716 Hs.569288 APPROVED miscrna ENSG00000236051 41023 PREDICTED 6481166 MYCBP2-AS2 MYCBP2 antisense RNA 2 100874213 AL359257 APPROVED miscrna 41024 1314284 MYBPC3 myosin binding protein C, cardiac MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 11 11 p11.2 47309533 47330829 - 47352957 47374253 - 1580232;1580233;1580234;1580235;1580236;1580237;1580238;1580239;1580863;6480464;6907045;7240710 16651346;15737656;16004897;15519027;12202917;12110947;9562578;9048664 10424815;16344560;16199542;16087648;15769446;15671604;15582318;15563892;15213454;15114369;15000344;14563344;12974739;12951062;12818575;12787675;12721663;12707239;12628722;12379228;12358155;11955864;11499719;11499718;10736283;10672519;10521296;17192269;15601779;7493025;11815426;15166115;19574547;19356534;19293840;19273718;19151713;19150014;19149795;19035361;18957093;18929575;18803133;18802026;18573260;18560154;18513529;18467358;18403758;18383048;18374358;18337725;18273486;17937428;17560599;16754800;16566405;9742053;9614495;9541115;9541104;9218526;8791411;8631348;8358441;7744002;7493026;6448079;352343;22057632;21297165;10024460;10347086;12386147;12477932;14968112;16052631;19403693;19406073;19666645;19808356;19850579;19853701;19875404;20019025;20021930;20031618;20128375;20193176;20201939;20215591;20359594;20378854;20379614;20414521;20433692;20474083;20151718;21088121;20689143;20350521;19913121;20379391;20624503;20628086;20800588;20975235;21165360;20850451;21257752;20740642;22462493;21821050;19666196;21409595;20542340;21551322;21915287;22041450;21971072;22296197;21959974;22021246;22314326;20301486;20301725;21822214;21985754;22267749;21145461;22415774;22907696;23277198;23140321;22529996;22801425 4607 A5YM48;A8MXZ9;F5GZR4;Q14896 ABBA01060720;AC090582;AJ708511;AJ708699;AK291569;AK297843;AL691822;AMYH01003541;AU140784;AY518390;BC136543;BC136546;BC142685;BC151211;CH471064;DA563514;EF560722;EU747718;EU747719;GU324918;NG_007667;NM_000256;S80778;S80782;U91629;X84075;Y10129 AAB35662;AAB35663;AAC04620;AAI36544;AAI36547;AAI42686;AAI51212;AAR89909;ABQ59032;ACH92816;ACH92817;ADL14489;BAF84258;BAG60177;CAA58882;CAA71216;EAW67927;EAW67928;EAW67929;NP_000247;Q14896 Hs.524906 1659339;1792998 MYBPC3;PMC181559P1 CMH4;DKFZp779E1762;FHC;MYBP-C C-protein, cardiac muscle isoform;OTTHUMP00000234664;OTTHUMP00000236484;cardiac MyBP-C;myosin-binding protein C, cardiac;myosin-binding protein C, cardiac-type APPROVED protein-coding ENSG00000134571 7551 02980 115197;115200;600958 REVIEWED 1318263 MYBL2 v-myb avian myeloblastosis viral oncogene homolog-like 2 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 20 20 q13.1 41729123 41778536 + 42295709 42345122 + 1580863;6480464 10770937;19383908;19043454;19016757;18676680;18026132;17588787;17563750;17159899;17098733;17081983;16551698;16476973;15618219;15489334;15302935;15256398;14769798;14506250;12947099;12927788;12673206;12645566;12477932;12475768;12439743;11997503;11973331;11780052;11733503;11522824;11423988;11264176;11259168;10871850;10744766;10656684;10645009;10593981;10544265;10095772;9840932;9012818;8812502;8314782;8142646;8125298;8123011;8062924;7642110;3060855;1984793;1717494;1376749;12748276;10766737;21148321;19170196;19625176;19692168;19821490;20211142;20857481;16055500;20864510;20734103;21187425;21480327;18548008;19725879;22910183;23555285;21304178;21367750;21419759;17531812;20360068;21693764;21900206;19471022;17671431;21988832;23032261 4605 F8W6N6;P10244 AA586734;ABBA01052626;ABBA01052627;ABBA01052628;AK223482;AK303249;AK314791;AL121886;AMYH01011926;AMYH01011927;BC007585;BC053555;BU178833;BX647151;CH471077;DC395847;NM_001278610;NM_002466;X13293;X82032 AAH07585;AAH53555;ABM84448;ABM86871;BAD97202;BAG37322;BAH13925;CAA31655;CAA57552;EAW75951;NP_001265539;NP_002457;P10244 Hs.179718 2167910;2169395 STS-X13293;WI-7535 B-MYB;BMYB;MGC15600 OTTHUMP00000031719;myb-like protein 2;myb-related protein B;v-myb avian myeloblastosis viral oncogene homolog-like 2;v-myb myeloblastosis viral oncogene homolog-like 2 APPROVED protein-coding ENSG00000101057 7548 03247 601415 REVIEWED 1345657 MYCLK1 v-myc avian myelocytomatosis viral oncogene homolog-like 1 p15 1612604 4612 M64786 Avian myelocytomatosis viral (v-myc) oncogene homolog like 1;v-myc avian myelocytomatosis viral oncogene homolog-like 1;v-myc myelocytomatosis viral oncogene homolog (avian)-like 1;v-myc myelocytomatosis viral oncogene homolog-like 1 APPROVED protein-coding 7558 164865 1343480 MYCLP1 MYCL pseudogene 1 X X X q22.3 106987052 106991146 + 106402468 106403544 + 106515694 106519789 + 1580863;6480464 10229200;10100857;7479755;3054516;2827002;2541066;1711681 4611 P12525 ABBA01035878;ABBA01035879;AC004081;AMYH01022827;CH471120;J03069;NG_009866 AAA59883;AAB97938;EAX02715 1690574;1702766 GDB:192508;RH68964 MYCL2;bHLHe38 APPROVED pseudo 7556 02403 310310 INFERRED 7247503 MYCLP2 MYCL pseudogene 2 645136 ABBA01015317;ABBA01015318;AL034396;AMYH01022468;NG_021343 pseudo 48924 INFERRED 1354494 MYCLP3 MYCL pseudogene 3 X X X q27.2 142969988 142971254 - 142510323 142511589 - 142682657 142683923 - 10100857 9964 ABBA01066401;AC239921;AL080239;AMYH01023125;NG_001222;Y16968 v-myc myelocytomatosis viral oncogene homolog 3 pseudogene (avian) APPROVED pseudo 7557 INFERRED 734272 MYBPH myosin binding protein H 1 1 1 q32.1 176266180 176274183 - 201403562 201411565 - 203136939 203144942 - 1580863;6480464 8486381;15489334;12477932;12154082;10024460;19536175;21890473;22085929;19322201;23068101 4608 Q13203 ABBA01027484;AC105940;AMYH01001654;BC044226;CH471067;L05606;L05607;NM_004997;U27266 AAA02904;AAA36339;AAB86737;AAH44226;EAW91466;NP_004988;Q13203 Hs.927 1682698;1787630;2124312;2140719 RH93718;SHGC-155998;SHGC-76152;STS-AA025771 H-protein;OTTHUMP00000039086;myBP-H;myosin-binding protein H;norvegicus myosin binding protein h protein-coding ENSG00000133055 7552 01186 160795 VALIDATED 1345665 MYCBPAP MYCBP associated protein 17 17 17 q21.33 45047042 45070225 + 45940811 45963861 + 48585745 48608862 + 1580863;6480464 12151104;17353931;18843202;12477932;11230166;22589738;12223483 84073 B4DZQ1;C9JXR6;C9JZX1;H0Y7R1;H7C0Z8;I3L2I8;K7EJ23;K7EJV4;K7EKR6;Q8TBZ2 AB083068;ABBA01041240;AC021491;AK127992;AK303041;AK314052;AL136765;AL832225;AMYH01008473;BC028393;BC036358;BG718526;CH471109;NM_032133 AAH28393;BAB88692;BAG54614;BAG64163;CAB66699;CAH56203;EAW94608;EAW94609;NP_115509;Q8TBZ2 Hs.398196 2114110;2191243 AB050260;MARC_16741-16742:1020435796:1 AMAP-1;AMAP1;DKFZp434N1415 AMAM-1;AMY-1-binding protein 1;AMY1-associating protein 1;MYCBP-associated protein;OTTHUMP00000211654;OTTHUMP00000211655 protein-coding ENSG00000136449 19677 11378 609835 VALIDATED 1350092 MYCP v-myc myelocytomatosis viral oncogene homolog pseudogene (avian) 4614 7560 1322941 MYCT1 myc target 1 6 6 6 q25.2 153752735 153779422 + 153060723 153087410 + 153019030 153045717 + 737633;6480464 12477932 16344560;14702039;14562369;12673574;8889549;22672838;21998677;21799513 80177 E9PQ55;H0YDV5;Q8N699 AA152372;ABBA01025616;AF527367;AK021612;AK024922;AL390960;AL834500;AMYH01016747;AMYH01016748;AMYH01016749;BC022556;BC128463;BC128464;CH471051;DA863771;GU997693;NM_025107 AAH22556;AAI28464;AAI28465;AAM88866;ADG03644;BAB15035;CAD39158;EAW47726;NP_079383;Q8N699 Hs.18160 1664734;1680036;1739827;1855300;2124706 D6S1536E;RH45552;RH69853;RH92601;STS-AA004369 FLJ21269;MGC156309;MGC156310;MTLC OTTHUMP00000017449;myc target in myeloid cells 1;myc target in myeloid cells protein 1;myc target protein 1 protein-coding ENSG00000120279 23172 17617 VALIDATED 1352448 MYCNOS MYCN opposite strand/antisense RNA The N-myc oncogene has been implicated in the pathogenesis of a number of human tumors, including childhood neuroblastoma and adult small cell lung cancer. Complementary DNA clones derived from a transcription unit, N-cym, located on the opposite DNA strand to N-myc have been characterized. There is extensive overlap between the 5' ends of the two transcription units. The N-cym gene, which can encode a 109-amino acid protein, is expressed during fetal development, as well as in tumor cell lines containing amplified N-myc loci, where it is expressed at very high levels. Although other examples of overlapping, opposite-strand eukaryotic genes exist, N-myc and N-cym are unique in that they appear to be coregulated in tumor cell lines under basal growth conditions and in response to the differentiating agent retinoic acid. This coregulation suggests that their protein products may be functionally interrelated during normal development and oncogenesis. [provided by RefSeq, Jul 2008] 2 2 2 p24.1 15997718 15999543 - 15997473 15997815 - 16080020 16081845 - 1580863;6480464 1419902;12880964;12477932;19615087 10408 P40205 ABBA01015686;AC010145;AMYH01010134;BC002892;NG_007457;NR_026766;S49953 AAB24206;AAY14951;P40205 Hs.651453 2128111;2190765;5022651 D11S2921;MYCN;RH17899 MYCN-AS1;NCYM;NYCM APPROVED miscrna ENSG00000233718 16911 605374 VALIDATED 1346068 MYCL v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog 1 1 p34.2 40133685 40140274 - 40361096 40367687 - 1580863;6480464 18566574;19020549;18645122;17145094;16710414;15489334;15269151;15075794;15014029;12883749;12707044;12507230;12477932;12439118;12169206;12034523;11956626;11955646;11836605;11802801;11602341;11473723;10229200;8978772;7479755;3322939;3054516;2827002;2548855;2006410;10597290;19536170;20095854;20874233;22490849;21676885 4610 B4DJH2;E9PQS5;P12524 ABBA01023197;AI144219;AK296078;AK296838;AL033527;AMYH01000530;AY191718;BC011864;BC030694;BM967204;BX101968;CH471059;HC084230;JB171964;M19720;NM_001033081;NM_001033082;NM_005376;X07262;X07263 AAA59878;AAA59879;AAH11864;AAO38672;ABZ92166;ACE87032;ADZ16055;BAG58834;BAG59407;CAA30248;CAA30249;CBI12211;CCW44113;EAX07250;EAX07251;NP_001028253;NP_001028254;NP_005367;P12524 Hs.437922 1671406;1690574;1741125;1745037;2108275;2127782;2149102 AL009281;D1S3435;GDB:177902;GDB:593194;MYCL1_8487;RH68964;SHGC-74641 LMYC;MYCL;bHLHe38 OTTHUMP00000010829;OTTHUMP00000010830;OTTHUMP00000179082;class E basic helix-loop-helix protein 38;l-myc-1 proto-oncogene;myc-related gene from lung cancer;protein L-Myc-1;v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived APPROVED protein-coding ENSG00000116990 7555 01279 164850 VALIDATED 1344499 MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. [provided by RefSeq, Jul 2008] 2 2 p24.3 15998134 16004580 + 16080683 16087129 + 1580863;6480464;7240710 3796607;12545167;10597290;11593398;19401549;19208763;19111882;19061778;19047152;19047142;19006223;18955045;18949372;18785023;18769732;18671284;18610847;18591937;18504438;18488021;18470948;18391076;18348317;18335505;18281664;18278068;18198336;18165268;18097563;18059033;18004567;17710228;17704800;17643814;17611020;17554788;17535087;17525631;17506115;17495526;17464317;17327229;17289033;17213019;17172827;17055458;17023822;17020972;16912192;16912187;16596176;16516635;16278682;16166307;15833843;15660126;15644444;15632181;15547663;15489334;15331636;15316056;15314226;15302935;15258910;15218241;15198123;15117961;14737110;14719101;14647433;14645238;12907629;12819037;12808116;12670915;12660036;12569580;12477932;12438307;12232763;12219017;12192602;12153570;11881792;11861392;11850545;11826111;11602341;10677303;10407192;10229200;9856457;8668343;6728001;6719137;6700732;6575396;3940169;3552210;3510398;3437890;3299258;3008339;2987858;2869488;2834684;2582423;2006410;1695323;1549498;1425701;1419902;22544364;21929510;22337647;22120721;20980091;20575024;21258086;18851746;19301388;19495417;19608868;19615087;19649205;19656550;19724862;19766596;19852433;19885598;19924232;19946337;19956635;19997598;20007697;20017904;20080637;20103633;20144241;20145147;20173740;20179233;20180881;20190806;20332316;20424123;20478998;21173028;20409325;21123453;20961996;20395439;20425471;20811720;20236072;21297076;21112821;21378543;20719933;21214410;21370425;20607354;21508638;22907398;23091029;22921766;21046119;21224895;21572098;21304178;21384249;21501490;20946988;21533284;21646478;21288077;23308108;23317189;21498633;23341988;23498719;21908575;22146831;20697349;21073496;21731748;21725357;21796614;21796619;22068108;22218692;21750863;22623531;22975311;21856782;22286764;23362253;21862876;21882282;21822304;22035742;22090452;22624711;22065083;22202125;21698133;22052359;22123490;22439933;22751132;23578955;23812427;23152863;21963094;23042116;23284678;23320395;23284291;23186832;20301770;22484425;22952844 4613 P04198;Q53XS5 ABBA01015687;AC010145;AF320053;AI962624;AJ242956;AK298225;AK299495;AMYH01010134;AMYH01010135;BC002712;BT007384;BU167361;CH471053;HC084228;JB171962;M13228;M13241;M18090;M55330;NG_007457;NM_005378;X02363;X03294;X03295;Y00664 AAA36370;AAA36371;AAA59885;AAG40001;AAH02712;AAP36048;AAY14952;BAG60495;BAG61453;CAA27037;CAA27038;CAA68677;CAA68678;CAB37871;CAB44703;CBI12210;CCW44112;EAX00885;EAX00886;EAX00887;EAX00888;NP_005369;P04198 Hs.25960 1673777;1796378;2128111;2158906;2190765;2190897;7184043 D2S2719;D2S390;MARC_10471-10472:999704936:1;MYCN;MYCN_953;RH17899;RH69067 MODED;N-myc;NMYC;ODED;bHLHe37 N-myc proto-oncogene protein;OTTHUMP00000037565;class E basic helix-loop-helix protein 37;neuroblastoma MYC oncogene;neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene;oncogene NMYC;pp65/67;v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived;v-myc myelocytomatosis viral related oncogene, neuroblastoma derived APPROVED protein-coding ENSG00000134323 7559 01278 164280;164840 REVIEWED 731438 MYC v-myc avian myelocytomatosis viral oncogene homolog The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini. The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. [provided by RefSeq, Jul 2008] 8 8 q24.21 128817498 128822856 + 128748315 128753680 + 1580901;1601453;1580863;6480464;6484113;6907045;7207416;7207407;7207413;7240702;7207418;7240527;7240549;7240700;7240710;7207787;7207432;7240531;7241002;7207426;7207427;7207793;7240563;7240564;6483544;7240699;7207428;7207447;7207457;7207459;7207779;7207861;7240562;7240566;7240568;7241004;7241009;7207778;7207401;6903288;7240519;7240520;7240535;7240695;7240537;7207450;7240547;7207420;7207430;7207453;7207777;7207781;7207838;7207840;7240541;7240567;7240694;7207451;7207786;7207841;7207890 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4609 E5RGD7;H0YBG3;H0YBT0;P01106 AA807892;ABBA01037946;AC103819;AK303921;AK312883;AMYH01019015;AY214166;BC000141;BC000917;BC058901;BG499628;BK006467;BT019768;CH471060;D10493;HC084226;HI574342;J03253;K00534;K00535;K01906;K02276;L00058;M13929;M13930;M14206;M20605;NG_007161;NM_002467;V00568;X00196;X00364;X00676;X66258 AAA36340;AAA59880;AAA59881;AAA59882;AAA59886;AAA59887;AAA88090;AAA88091;AAA88092;AAA88093;AAA88094;AAH00141;AAH00917;AAH58901;AAO21131;AAV38573;ABM85011;ABW69847;BAA01374;BAA01375;BAG35731;BAG64849;CAA23831;CAA25015;CAA25105;CAA25106;CAA25288;CAA46984;CBI12209;CBX47660;DAA06340;EAW92098;EAW92099;EAW92100;EAW92101;NP_002458;P01106 Hs.202453 1656708;1741167;1791073;1791328;1791378;1791834;1791836;1791838;1791882;1792014;1792324;1792406;1792410;1792654;1793070;1793328;1793870;1793920;2128591;2156325;2183889;2191627;2217654;5022714 D8S1980;G15987;GDB:178394;MARC_31575-31576:1045674460:1;MYC;MYC_3297;PMC102803P1;PMC108928P1;PMC127396P1;PMC127396P2;PMC127396P3;PMC129440P1;PMC134733P6;PMC140827P1;PMC150726P6;PMC150726P9;PMC156147P1;PMC193934P1;PMC209426P2;PMC303366P10;PMC309637P1;RH78926;UniSTS:256954;WI-19203 MRTL;MYCC;bHLHe39;c-Myc OTTHUMP00000158589;OTTHUMP00000227763;avian myelocytomatosis viral oncogene homolog;class E basic helix-loop-helix protein 39;myc proto-oncogene protein;myc-related translation/localization regulatory factor;proto-oncogene c-Myc;transcription factor p64;v-myc avian myelocytomatosis viral oncogene homolog;v-myc myelocytomatosis viral oncogene homolog 2292709;2292922;2292939;2292941;2292951;2292960;2292989;2293005 PRSTS135_H;PRSTS136_H;PRSTS137_H;PRSTS138_H;PRSTS139_H;PRSTS140_H;PRSTS141_H;PRSTS2_H APPROVED protein-coding ENSG00000136997 7553 01818 113970;190080;614937 REVIEWED 1323830 MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase 13 13 13 q22 58516778 58799215 - 76516793 76799178 - 77618792 77901177 - 1580863;6480464 17353931;19240061;19000755;17081983;15489334;15470080;21145461;15302935;15257286;15146197;15057823;14702039;14559897;12477932;12168954;11042152;10048485;9689053;15778465;15324660;15231748;19615732;20534529;16196087;15161933;15840729;16051665;21139048;21890473;21906983;19398581;22318606;22586326;22645275 23077 F8WA13;H7C3U4;J3KPZ3;O75592 AA236471;AB020723;ABBA01021660;ABBA01021661;AC001226;AF075587;AF083244;AK000968;AK023888;AK025250;AK025299;AK092651;AL110277;AL159154;AL159158;AL359257;AMYH01005222;AMYH01005223;BC037971;BE886946;BI859936;BX473679;BX647202;CH471093;CN395460;CN395461;NM_015057 AAC39928;AAD39842;AAH37971;BAA74939;BAA91448;CAB53712;EAW80564;EAW80565;EAW80566;EAW80567;NP_055872;O75592 Hs.591221 1340581;1660095;1660890;1678169;1753783;1759275;2111654;2111694;2111700;2111730 D13S1306;D13S1580;D13S1611;D13S1614;D13S1631;RH79670;SHGC-108010;SHGC-150891;STS-Z40889;WI-21663 DKFZp686M08244;FLJ10106;FLJ13826;FLJ21597;FLJ21646;KIAA0916;PAM OTTHUMP00000018523;myc-binding protein 2;pam/highwire/rpm-1 protein;probable E3 ubiquitin-protein ligase MYCBP2;protein associated with Myc APPROVED protein-coding ENSG00000005810 23386 10104 610392 VALIDATED 1353148 MYETS1 multiple myeloma tumor suppressor 1 373170 23050 1315945 MYCBP MYC binding protein The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011] 1 1 1 p33-p32.2 37607265 37617685 - 39101221 39111637 - 39328162 39339050 - 1580863;6480464;6484113 12151104;9797456;17595061;16866877;15489334;12665801;12522145;12477932;12414807;12223483;11483602;16169070;21139048;21890473;21906983;20562918;19615732;20379614;20544396;8889548;22939629;22863883;18029348;19167051;22050566;15979100;20360068;20500816;20639590;18271526;23000965;23398456;23402259;23444366 26292 Q6IB68;Q99417 AB007191;AB451287;AB451419;ABBA01023239;AK311886;AL139260;AMYH01000512;BC008686;BE502732;BQ437941;BT007109;BU601195;CH471059;CN478752;CR456936;D50692;NM_012333;NR_037632 AAH08686;AAP35773;ABM82417;ABM84624;ABM85616;BAA09338;BAA22408;BAG34827;BAG70101;BAG70233;CAG33217;EAX07290;EAX07291;EAX07292;NP_036465;Q99417 Hs.591506 1679694;1680062;1684628;1795918 GJA10_965;RH65637;RH68279;RH69866 AMY-1;FLJ41056 C-Myc-binding protein;OTTHUMP00000000543;associate of Myc 1;associate of myc-1 APPROVED protein-coding 7554 08406 606535 REVIEWED 1601821 MYEOV2 myeloma overexpressed 2 2 2 2 q37.3 234739018 234748802 - 240714653 240724437 - 241065980 241075764 - 6480464 15146197;21145461;12477932;19615732;22939629 150678 J3QT29;Q8WXC6 ABBA01048859;AC013469;AF453951;AF487338;AMYH01011617;BC033955;CH471063;CN304277;NM_001163424;NM_138336 AAI40453;AAL41026;AAL96264;AAY14738;EAW71178;NP_001156896;NP_612209;Q8WXC6 Hs.293884 1683807 RH92274 OTTHUMP00000164500;OTTHUMP00000201583;helicase/primase complex protein;hypothetical protein LOC150678;myeloma-overexpressed gene 2 protein protein-coding ENSG00000172428 21314 17306 VALIDATED 1318025 MYF5 myogenic factor 5 12 12 q21 79634839 79637578 + 81110708 81113447 + 1580863;6480464 12105204;2311584;2721498;19453261;19192046;16614355;15342556;12477932;12204280;10930450;10757985;9461343;9242638;8978788;8797820;2385294;19829708;9418854;15923648;21810080 4617 P13349;Q5U0P5 ABBA01053491;AC025568;AMYH01004612;BC069373;BP231293;BT019399;BX089431;CH471054;CS018099;CS025614;NM_005593;U27313;X14894 AAA69824;AAH69373;AAV38206;CAA33025;CAI58664;CAI61684;EAW97368;NP_005584;P13349 Hs.178023 1744051;1751079;1769314;2182127;5491211;5492053 GDB:384940;MYF5HAEIII;Myf5;SHGC-104971;SHGC-12688;WI-16580 bHLHc2 OTTHUMP00000243110;class C basic helix-loop-helix protein 2;myf-5;myogenic factor 5 protein-coding ENSG00000111049 7565 01168 159990 VALIDATED 1344425 MYEOV myeloma overexpressed 11 11 11 q13 66404620 66407752 + 68818198 68821330 + 69061622 69064754 + 6480464 17390055;16678123;16552434;16275643;15489334;12477932;12202983;10753852;20569498;20453838;16341674;20854874;21624008;21906983 26579 F5H0B3;Q96EZ4 ABBA01013429;AJ223366;AK026148;AK290121;AMYH01003771;AP005379;BC011815;BM785815;BM809741;BM837864;CH471076;NM_138768 AAH11815;BAF82810;CAB65726;CAB65727;EAW74740;EAW74741;NP_620123;Q96EZ4 Hs.523848 1690434;2110587 MYEOV_9496;RH94186 OCIM OTTHUMP00000237027;OTTHUMP00000237028;hypothetical protein LOC26579;myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas);myeloma-overexpressed gene protein;oncogene in multiple myeloma APPROVED protein-coding ENSG00000172927 7563 16130 605625 VALIDATED 737050 MYH13 myosin, heavy chain 13, skeletal muscle 17 17 17 p13 10235039 10307189 - 10144908 10217047 - 10204183 10276322 - 69899;1580863;6480464;6907045 9806854 10388558;19240061;18830724;15231747;12110653;10077619;8424456;21426302;20379614;20618440 8735 B4DFX9;Q9UKX3 ABBA01054975;ABBA01054976;AC005291;AF075248;AF111782;AK294316;AMYH01008105;AMYH01008106;CH471108;NM_003802 AAC83241;AAD29948;AAI56337;AAI57122;BAG57590;EAW90010;NP_003793;Q9UKX3 Hs.711142 1334584;2115267;2135171;7185474 D17S2130;D17S520;G17964 MyHC-eo extraocular muscle myosin heavy chain;extraocular myosin heavy chain;myosin heavy chain 13;myosin heavy chain, skeletal muscle, extraocular;myosin, heavy polypeptide 13, skeletal muscle;myosin-13 protein-coding ENSG00000006788 7571 04599 603487 VALIDATED 1315223 MYEF2 myelin expression factor 2 15 15 15 q21.1 25324149 25363072 - 46218921 46257850 - 48431629 48470558 - 1580863;6480464 18029348;15489334;14702039;12477932;10718198;22586326;8455629;17646162;20709755;15111488;15870273;16424906;19454010;20508642;22939629;21139048;21532573;22505724 50804 H0YKS1;H0YN19;Q9NUQ1 AB037762;ABBA01039142;ABBA01039143;AC066612;AC090526;AF106685;AF190159;AK002075;AK023133;AK027316;AMYH01006628;BC014533;BC068523;BC131786;BC152420;BC152451;BX647197;CH471082;NM_016132 AAD43038;AAH14533;AAH68523;AAI52421;AAI52452;AAI67842;AAQ13703;BAA92070;BAA92579;BAB14421;EAW77337;EAW77338;EAW77339;EAW77340;EAW77341;EAW77342;NP_057216;Q9P2K5 Hs.6638 1665883;1673810;1704788;1754565;1796380;2125790;2150842;2174057;5015861;5037552;7185938 D10S16;D8S2279;MYEF2_1816;RH45837;RH68492;SHGC-132846;SHGC-53423;SHGC-79861;STS-N31726;WI-22694 FLJ11213;HsT18564;KIAA1341;MEF-2;MGC87325;MST156;MSTP156 myEF-2;myelin expression factor 2;myelin gene expression factor 2 protein-coding ENSG00000104177 17940 14794 VALIDATED 1344807 MYH16 myosin, heavy chain 16 pseudogene The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man.[supplied by OMIM, Mar 2008] 7 7 7 q22.1 93605104 93629769 + 98708860 98733531 + 98870924 98895595 + 1580863 18085818;15470226;15042088;15014174;11919279 84176 AACC02000084;ABBA01013269;AC004834;AK025690;AMYH01017721;BK001410;CH236956;NR_002147 BAB15219 Hs.621401 1660031;1854273;2168273;2185225 D7S1463;D7S1553;GDB:1234280;RH70329 FLJ22037;MHC20;MYH16P;MYH5 myosin, heavy chain 16 APPROVED pseudo ENSG00000002079 31038 608580 PROVISIONAL 1345144 MYD88 myeloid differentiation primary response 88 This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 3 3 p22 38155009 38159517 + 38179969 38184513 + 1580863;1302746;5490218;5490215;5685014;6480464;6484113;6907045;7240710 14962484;18535784;20086235;21235323 20306472;9374458;10383454;10880445;11544529;16286016;16365431;12761501;19506249;19494325;19453261;19336475;19297619;19265123;19254290;19167362;19124728;19006693;18987746;18810425;18802114;18782768;18776126;18771998;18768833;18719610;18703508;18669862;22158417;22541070;18581201;18571728;18541719;18539711;18523439;18503546;18458086;18325643;18292575;18195069;18086890;18070982;17940625;17935950;17920759;17905570;17583698;17548806;17513785;17507480;17507369;17363736;16644730;16517750;16517734;16482509;16424162;16293622;16236719;16203735;16189514;15849357;15845500;15760459;15728506;15665823;15623538;15489334;15361868;15342556;15004556;14702039;14630816;14573621;12885415;12865424;12860405;12724322;12659850;12646618;12531807;12477932;12391239;11960013;11909531;11880380;11854210;11828002;11743586;10952994;10854325;9716450;9344657;9013863;8957090;15107846;11976320;11416133;12538665;16415872;22011580;22673208;22739766;22904187;20410269;14625308;15276183;16024789;16997282;19120481;19257978;19281832;19423540;19488045;19509286;19543401;19548630;19592493;19619129;19656901;19745833;19753301;19779605;19786094;19826413;19917706;19940113;19948740;19950169;20145615;20197549;20219467;20331378;20406964;20438785;20448286;20463618;20485341;9575168;9915784;20802145;20817868;20433840;16484229;20941850;21048031;20167866;20957750;19913121;20588308;20628086;20676093;15294994;20824098;20837465;21179087;21325272;21248248;16961462;17258210;18221795;20048342;20966070;21113489;21383499;21257927;19593445;20937539;20681284;22992740;22896623;22964479;22808296;22944768;23002119;23221546;23381138;21804016;21536801;21606507;21792053;21646294;23460645;21809339;21911421;21956671;21621419;21897371;21903422;21273385;21949112;21640812;20805788;21991928;22020631;22219328;22295065;22474023;23532735;23776175;21890473;21906983;20880684;21525878;21654189;22095710;21988832;22848400;23453969;22043923;22288587;22250084;12609980;17276401;20639876;22221660;22565171;22931316;22332739;22495176;16951688;23269203;22837180;23321251;23355535;23186691;23235763;23255009;16461741;20145198;22505724;22640364;22685567;23036196;22533866;22985132 4615 H0Y4G9;J3KPU4;J3KQ87;J3KQJ6;Q99836 AB446470;ABBA01024827;AK097983;AK124685;AK296570;AK296716;AK298650;AK298666;AK300051;AK300448;AK304676;AL832906;AMYH01013089;AP006309;BC013589;BP242808;BP339466;BT007376;BX537602;CH471055;DC350705;NG_016964;NM_001172566;NM_001172567;NM_001172568;NM_001172569;NM_002468;U70451;U84408 AAB49967;AAC50954;AAH13589;AAP36040;ACE86707;ACE87392;BAG55247;BAG59190;BAG59306;BAG60822;BAG60834;BAG61860;BAG62170;BAG65448;EAW64520;EAW64521;NP_001166037;NP_001166038;NP_001166039;NP_001166040;NP_002459;Q99836 Hs.82116 2119050 SGC30812 MYD88D OTTHUMP00000161718;OTTHUMP00000208595;OTTHUMP00000209058;OTTHUMP00000209059;OTTHUMP00000209060;myeloid differentiation primary response gene (88);myeloid differentiation primary response protein MyD88 APPROVED protein-coding ENSG00000172936 7562 03703 153600;602170;612260 REVIEWED 731932 MYF6 myogenic factor 6 (herculin) The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010] 12 12 12 q21 80767622 80769471 + 79625577 79627382 + 81101408 81103257 + 1600529;1580863;6480464 11053684 1945842;2311584;19453261;16614355;15489334;12477932;12105204;10757985;9242638;9234731;8978788;16344560;8889549;9418854;15923648 4618 P23409 AA176491;ABBA01053491;AC025568;AK313287;AMYH01004612;BC017834;CH471054;CR407641;CR541763;DA899591;NG_021392;NM_002469;X52011 AAH17834;ABM84174;ABM87576;BAG36095;CAA36260;CAG28569;CAG46563;EAW97367;NP_002460;P23409 Hs.35937 1668002;1744047;1777232;2154277;2191395;2219954 GDB:384934;MARC_21230-21231:1032890530:1;MYF6__6187;RH18098;RH68288;SGC35587 CNM3;MRF4;bHLHc4;myf-6 OTTHUMP00000243109;class C basic helix-loop-helix protein 4;muscle-specific regulatory factor 4;myf-6;myogenic factor 6 APPROVED protein-coding ENSG00000111046 7566 01169 159991;614408 REVIEWED 1348086 MYH15 myosin, heavy chain 15 3 3 3 q13.13 106495842 106644781 - 109581906 109730859 - 108099216 108248169 - 1580863;2317145;2317144;6907045 18073581;19752551 17975119;17081983;15042088;15014174;14702039;11919279;10231032;19023099;19948655;22360420;21906983;22443383 22989 Q9Y2K3 AB023217;ABBA01061704;ABBA01061705;AC069499;AC135308;AK055436;AK126801;AMYH01013382;CH471052;NM_014981 AAI72390;BAA76844;BAG51517;EAW79726;NP_055796;Q9Y2K3 Hs.731060 1342207;2109539 D3S2495;MYH15_9295 OTTHUMP00000214408;myosin, heavy polypeptide 15;myosin-15 protein-coding ENSG00000144821 31073 609929 VALIDATED 731491 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008] 17 17 p13.1 10472568 10501340 - 10531843 10560626 - 1580863;6480464;6907045;7240710 1691980;2771643;19142688;18695058;18649358;16642020;16579921;16368877;15342556;15203218;2806546;2726495;21145461;20357587;19913121;20628086;21531865;21862559;22519952 4621 P11055;Q5GJ67 ABBA01054978;AC002347;AMYH01008107;AY517555;BP232093;BP232245;BP232269;BP233139;BP233220;BP370003;BQ956249;BX500019;BY796597;CD614924;CH471108;NG_011537;NM_002470;X13100;X13988;X15696;X51593 AAI72385;AAT44528;CAA31492;CAA32167;CAA33731;CAA35942;EAW89999;EAW90000;NP_002461;P11055 Hs.440895 2127285 RH65622 HEMHC;MYHC-EMB;MYHSE1;SMHCE OTTHUMP00000160902;muscle embryonic myosin heavy chain;myosin heavy chain 3;myosin heavy chain, fast skeletal muscle, embryonic;myosin, heavy polypeptide 3, skeletal muscle, embryonic;myosin, skeletal, heavy chain, embryonic 1;myosin-3 APPROVED protein-coding ENSG00000109063 7573 01172 160720;193700;601680 REVIEWED 1348773 MYH5 myosin, heavy polypeptide 5 4623 7575 1350148 MYH1 myosin, heavy chain 1, skeletal muscle, adult Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008] 17 17 p13.1 10336349 10362584 - 10395624 10421859 - 1580863;6480464;6907045 10909963;18029348;19169759;18848840;18495334;17949294;17853024;17674103;17524638;17368238;17252231;17196619;16929514;16492921;16344560;16292541;15932553;15489334;15121898;15034862;12477932;11971910;11018701;10388558;10077619;7545970;6304733;2421254;1465443;17916367;18310078;19536092;19888426;19932167;20357587;19913121;20628086;16196087;21470888;22489880;17620599;22337492 4619 P12882 ABBA01054977;AC005323;AF111785;AJ573764;AK310004;AMYH01008106;BC022376;BC114545;CH471108;CS025608;DA826478;NM_005963;X03740 AAD29951;AAH22376;AAI14546;CAA27380;CAI61681;EAW90005;NP_005954;P12882 Hs.689619 1667201;1716641;1723877;1736660;5024075;5109793 D17S1493E;D17S1497E;RH118675;RH121577;RH36158;RH65760 MGC133384;MYHSA1;MYHa;MyHC-2X/D;MyHC-2x OTTHUMP00000160893;myHC-IIx/d;myosin heavy chain 1;myosin heavy chain 2x;myosin heavy chain IIx/d;myosin heavy chain, skeletal muscle, adult 1;myosin, heavy polypeptide 1, skeletal muscle, adult;myosin-1 APPROVED protein-coding ENSG00000109061 7567 08872 160730 REVIEWED 1323747 MYH4 myosin, heavy chain 4, skeletal muscle 17 17 p13.1 10287332 10313601 - 10346607 10372876 - 1580863;6480464;6907045 10388558;3904738;14640694;11543711;10077619;9405067;8518795;7751402;17353931;20562859;19615732;8145163;19913121;20628086;21102503;21232131;18029348 4622 Q9Y623 ABBA01054977;AC005323;AF111783;AMYH01008106;CS025606;NM_017533 AAD29949;AAI56395;AAI57121;CAI61680;NP_060003;Q9Y623 Hs.711141 5017681;5109793 D17S1497E;MYH3 MYH2B;MyHC-2B;MyHC-IIb OTTHUMP00000160899;myosin heavy chain 2b;myosin heavy chain 4;myosin heavy chain IIb;myosin heavy chain, skeletal muscle, fetal;myosin, heavy polypeptide 4, skeletal muscle;myosin-4 protein-coding ENSG00000264424 7574 08873 160742 VALIDATED 737424 MYH11 myosin, heavy chain 11, smooth muscle The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 p13.11 15704493 15858388 - 15796992 15950887 - 1580863;1580903;6480464;6907045;7240710 16444274 10998642;8219185;19011151;18941465;18798114;18796164;18391202;17956658;17666408;17571080;17287858;17081065;16767164;16504290;16502584;16000639;15968309;15585652;14702039;12477932;12239155;11439001;10906735;10850529;10493829;10048485;9715271;9628874;8276405;8424456;7916668;7684189;20132408;20936779;19596235;14627618;20508610;21205888;19328794;22939629;20618440;21698135;22266860;22511748;21890473;21963094;23000965;21906983;22178446;22001912;17361185;20473970;20301299;16289162;23160462;23314172;19380743;21853274;22505724;23152542 4629 D2JYH7;P35749 AA552189;AB020673;ABBA01048904;ABBA01048905;ABBA01048906;ABBA01048907;ABBA01048908;AC024120;AC026401;AC130651;AF001548;AF013570;AF020091;AK125033;AK308389;AK311080;AMYH01007182;AY520816;AY520817;BC031040;BC080545;BC101677;BC104906;BC143364;BX489788;BX641087;CH471226;CR749516;D10667;EU489063;GU143399;GU143400;NG_009299;NM_001040113;NM_001040114;NM_002474;NM_022844;S67238;S67240;U91323;X69292 AAB28950;AAB28951;AAB69326;AAB69327;AAC31665;AAC35212;AAH31040;AAH80545;AAI01678;AAI04907;AAI43365;AAS98910;AAS98911;ACB05996;ACZ58373;ACZ58374;BAA36971;BAA74889;CAA49154;CAH18331;EAW53924;EAW53925;EAW53926;EAW53927;EAW53928;EAW53929;EAW53930;NP_001035202;NP_001035203;NP_002465;NP_074035;P35749 Hs.460109 1340337;1341391;1342381;1645056;1648440;1681243;1683841;1687335;1689137;1729055;1738693;1738771;1766923;1771851;2124759;2127238;2130067;2168765;2172043;2185376;2219980;5022578;5022588;5037552;7186378;7187884 D16S2803;D16S2853;D16S3060;D16S3127;D16S3286;D16S3302;D16S405;D1S1423;D5S1597E;D8S2279;G10522;Myh11;NDE1__6219;RH41965;RH64988;RH69889;RH79576;SHGC-1128;SHGC-152410;SHGC-3358;SHGC-5890;SHGC-60785;SHGC-61040;SHGC-6807 AAT4;DKFZp686D10126;DKFZp686D19237;FAA4;FLJ35232;MGC126726;MGC32963;SMHC;SMMHC OTTHUMP00000160389;OTTHUMP00000160390;myosin heavy chain 11;myosin heavy chain, smooth muscle isoform;myosin, heavy polypeptide 11, smooth muscle;myosin-11 APPROVED protein-coding ENSG00000133392 7569 01174 132900;160745 REVIEWED 1353980 MYH10 myosin, heavy chain 10, non-muscle This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 17 17 p13 8318255 8474761 - 8377523 8534079 - 1580863;6480464;6907045 17020881;15845534;7782316;15774463;7699007;11029059;7499478;19237661;18843042;18697221;18460584;18182116;17727819;17202408;17081983;17023528;16611744;16596254;16394101;16257837;15628858;15619008;15496454;12724421;12704189;12477932;10958671;10906735;9405067;8931991;8663598;7916668;7542763;1860190;8424456;14594945;17353931;21145461;21319273;20564232;20936779;19553683;19615732;20379614;20860798;20677014;20660156;21106542;21203488;20811636;19156129;21737147;19596686;21697133;17620599;21792479;22266860;22586326;16344560;21139048;21890473;21906983;22049517;17361185;20473970;20682791;22677128;22939629;12605685;19380743;21853274;22505724;22952844;23128239 4628 B2RWP9;E7ERA5;F8W6L6;G1UI33;P35580;Q9BWG0 AB210026;AB621820;ABBA01054917;ABBA01054918;ABBA01054919;AC011061;AC025518;AC026130;AF086505;AK026977;AMYH01008090;BC000280;BC008968;BC117690;BC117691;BC144668;BC150634;BE799557;BG421687;BG723653;BU173337;CA443268;CH471108;DA737414;M69181;NM_001256012;NM_001256095;NM_005964;S67247;U15618;U34304;U51039 AAA84880;AAA87712;AAA99177;AAB28952;AAC50620;AAH00280;AAH08968;AAI17691;AAI17692;AAI44669;AAI50635;BAE06108;BAK64156;EAW90046;EAW90047;EAW90048;EAW90049;EAW90050;NP_001242941;NP_001243024;NP_005955;P35580 Hs.16355 1340686;1661063;1661986;1688775;1762999;1773414;1797892;1848128;2119911;2122744;2123033;2168696;2184268;2191511 A004M39;D17S1384E;D17S647;MARC_24284-24285:1030045561:1;MYH10_2175;RH12513;RH12874;RH15854;RH18038;RH36627;RH93338;SHGC-12899;SHGC-146743;SHGC-32450 MGC134913;MGC134914;NMMHC-IIB;NMMHCB NMMHC II-b;NMMHC-B;NMMHC-IIB;OTTHUMP00000135337;OTTHUMP00000165799;cellular myosin heavy chain, type B;cellular myosin heavy chain, type B type B;myosin heavy chain 10;myosin heavy chain, non-muscle IIb;myosin heavy chain, nonmuscle type B;myosin, heavy polypeptide 10, non-muscle;myosin-10;near to the ATP binding region;non-muscle myosin heavy chain B;non-muscle myosin heavy chain IIb;nonmuscle myosin II heavy chain-B;nonmuscle myosin heavy chain IIB;nonmuscle myosin heavy chain-B APPROVED protein-coding ENSG00000133026 7568 01178 160776 REVIEWED 737147 MYH6 myosin, heavy chain 6, cardiac muscle, alpha Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010] 14 14 q12 22921039 22947322 - 23851199 23877486 - 1580905;1580922;1580923;1580863;1600533;6480464;6907045;7240710 15998695;15735645;9410916;11815426 16088376;15621050;18029348;12933792;18511944;16344560;12477932;11512664;8307559;3037493;2969919;2726733;2494889;2144212;2062315;1975475;1930170;1776652;8424456;19801488;20062063;20215591;18029400;19913121;20628086;20639392;20656787;21378987;21436590;20035047;20301486;20301559;20301725;22194935;22627578;23183192;18429820 4624 D9YZU2;P13533 ABBA01061320;AF056928;AK309494;AL049829;AMYH01005604;BC117511;BC132667;BX501231;CH471078;D00943;DA566231;GU324919;M21664;M25140;M25142;NG_023444;NM_002471;X56181;Z20656 AAA36344;AAA60386;AAA60387;AAC13489;AAI17512;AAI32668;ADL14490;BAA00791;CAA39642;CAA79675;EAW66154;EAW66155;NP_002462;P13533 Hs.278432 5017921;5126665 MYH6;RH71374 ASD3;CMD1EE;CMH14;MYHC;MYHCA;SSS3;alpha-MHC OTTHUMP00000164592;alpha myosin heavy chain;alpha-myosin heavy chain;cardiomyopathy, hypertrophic 1;myHC-alpha;myosin heavy chain 6;myosin heavy chain, cardiac muscle alpha isoform;myosin heavy chain, polypeptide 6;myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1);myosin-6 APPROVED protein-coding ENSG00000197616 7576 01171 160710;613251;613252;614089;614090 REVIEWED 1353391 MYHK myosin, heavy polypeptide kinase 4630 7580 1345305 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009] 17 17 p13.1 10234367 10265992 - 10293642 10325267 - 1600548;1580863;6480464;6907045;7240710 15282353 8518795;7601129;1691980;2715179;18049072;17041932;16344560;2373371;2045411;20357587;19913121;20628086;20949528;21906983;21628590;18029348 4626 P13535 ABBA01054977;AC005291;AC005323;AF067143;AK303395;AMYH01008106;CH471108;DB142109;M36769;NG_013015;NM_002472;X51592;Z38133 AAC17185;AAC21557;AAI72386;BAG64451;CAA35941;CAA86293;EAW90008;EAW90009;NP_002463;P13535 Hs.700484 1680653;1783608;5107780 RH74898;SHGC-171513;STS-M36769 MyHC-peri;MyHC-pn;gtMHC-F OTTHUMP00000160892;fetal-myosin heavy chain;myHC-perinatal;myosin heavy chain 8;myosin heavy chain, skeletal muscle, perinatal;myosin, heavy polypeptide 8, skeletal muscle, perinatal;myosin-8 APPROVED protein-coding ENSG00000133020 7578 11760 158300;160741;608837 REVIEWED 1347033 MYH2 myosin, heavy chain 2, skeletal muscle, adult Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009] 17 17 p13.1 10365190 10393742 - 10424465 10453017 - 1580863;1600532;6480464;6907045;7240710 11114175 12477932;7751403;10388558;3904738;18029348;18495866;17005402;16344560;15741996;15496418;15489334;12756252;12235157;11897493;11889243;10579056;10077619;9730972;7545970;2877813;17353931;10082674;11256614;15013951;19615732;20357587;20418530;8145163;20562859;21102503;23190566;22349865;17823310;21470888;20618440;12202484;21139048;22509030;22337492;22960022;23361003 4620 C9JIX4;E7EX84;J3QLR0;Q567P6;Q9UKX2 ABBA01054977;AC005323;AF111784;AK299440;AK300702;AK308102;AMYH01008106;BC093082;BC126409;BX510904;CH471108;CS025604;DA765261;DC379233;NG_013014;NM_001100112;NM_017534;S73840;Z32858 AAC13916;AAD29950;AAH93082;AAI26410;BAG61415;BAG62382;CAA83687;CAD91136;CAI61679;EAW90003;NP_001093582;NP_060004;Q9UKX2 Hs.667534 1712997;1736652;1736660;1736668;2131797;5024075;5109793;5124396 D17S1489E;D17S1493E;D17S1497E;D17S1498E;RH120589;RH65760;RH71315;RH98750 MYH2A;MYHSA2;MYHas8;MyHC-2A;MyHC-IIa OTTHUMP00000160894;fast 2a myosin heavy chain;myosin heavy chain 2;myosin heavy chain 2a;myosin heavy chain IIa;myosin heavy chain, skeletal muscle, adult 2;myosin, heavy polypeptide 2, skeletal muscle, adult;myosin-2;type IIA myosin heavy chain APPROVED protein-coding ENSG00000125414 7572 01173 160740;605637 REVIEWED 1315652 MYH14 myosin, heavy chain 14, non-muscle This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 19 19 q13.33 55398697 55505613 + 50706885 50813801 + 1580863;1600531;6480464;6907045;7240710 15015131 19240025;19183343;18471249;16713569;16344560;15845534;15498874;15489334;14702039;14594953;12909352;12477932;11919279;11752456;8022818;7655461;8424456;21368133;17940200;20533261;21182205;22863883;22990118;21478157;21480433;21872659;21139048;21890473;21906983;22266860;22586326;20301607;20473970;23398456;22993228;21963094;22505724;23000965;19380743;21853274 79784 A1L2Z2;B3KWH4;F2Z2U8;G8JLL9;M0QY43;Q9BT27 AB111886;AB290169;ABBA01068331;ABBA01068332;ABBA01068333;ABBA01068334;ABBA01068335;ABBA01068336;ABBA01068337;ABBA01068338;AC008655;AC010515;AC020906;AK023943;AK091982;AK122704;AK125082;AK303704;AK307783;AMYH01009932;AMYH01009933;AMYH01009934;AV661825;AY165122;AY203926;BC000676;BC004396;BC007877;BC018933;BC129803;CH471135;CR936653;DB110776;FJ041910;L29142;NG_011645;NM_001077186;NM_001145809;NM_024729 AAA20905;AAH00676;AAH04396;AAH07877;AAH18933;AAI29804;AAO39147;AAP34449;ACM78630;BAB14735;BAC98374;BAG06723;BAG53677;BAG54136;BAG64689;CAI56791;EAW71838;EAW71839;EAW71840;EAW71841;EAW71842;EAW71843;NP_001070654;NP_001139281;NP_079005;Q7Z406 Hs.467142 1331578;1335127;1340775;1656688;1773148;1783812;2142304 Bdya0h04;D19S866;D19S881;D19S904;G18051;G31336;SHGC-149725 DFNA4;DFNA4A;DKFZp667A1311;FLJ13881;FLJ43092;FP17425;KIAA2034;MHC16;MYH17;NMHC II-C;NMHC-II-C;PNMHH;myosin MYH14 variant protein;NMHC II-C;myosin heavy chain, non-muscle IIc;myosin, heavy polypeptide 14;myosin-14;non-muscle myosin heavy chain IIc;nonmuscle myosin heavy chain II-C APPROVED protein-coding ENSG00000105357 23212 10543 600652;608568;614369 REVIEWED 736718 MYH7 myosin, heavy chain 7, cardiac muscle, beta Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008] 14 14 q12 22951787 22974710 - 23881947 23903496 - 1580924;1580925;1580926;1580927;1580928;1580929;1580930;1580931;1556469;1580863;6480464;6907045;7240710 15864745;12529291;15856146;15699387;15556047;15358028;15322983;12379228;11106718 18403758;16088376;15621050;3021460;8514894;18029348;12933792;19474452;19412328;19293840;19150014;19149795;19138847;19035361;18953637;18565996;18555187;18513529;18506004;18383048;18380764;18175163;18159245;18029407;17956225;17703256;17612745;17588755;17434305;17336526;17165166;17145772;17118657;17095604;17019812;16754800;16344560;16332199;16199542;16087648;15940186;15858117;15769782;15735645;15563892;15489334;15136674;15000344;14663035;14520662;12974739;12951062;12820698;12818575;12707239;12590187;12566107;12477932;12473556;12084606;12081993;11968089;11861413;11815426;11733062;11549319;11424919;11214007;11133230;11113006;10996847;10862102;10679957;10579056;10563488;10521296;10424815;10329202;9829907;9822100;9544842;8655135;8533830;8483915;8435239;8343162;8307559;8282798;8268932;8254035;8253797;8250038;7909436;7874131;7848441;7847377;7731997;7581410;3032769;2969919;2726733;2522082;2494889;3037493;2421254;2362820;2249844;2249479;2045411;1975517;1776652;1691980;1638703;1634614;1569941;1552912;1446073;1417858;1301151;1301139;8424456;17353931;21127202;12812986;12861002;17192269;19645038;19651039;19666645;19808356;19853701;19854198;19864899;19875404;19880069;19913502;20031618;20086309;20201937;20359594;20379614;20414521;20474083;20733148;12601813;20975235;21395566;19539541;20819418;20624503;20639392;20800588;20301606;19336582;21288719;20035047;21470888;21811976;21778428;20618440;21279644;21426742;23403236;22765922;21769673;21959974;20682791;20301559;20301725;22869457;22784669;21031054;22521714;20301436 4625 Q92679 AB209708;ABBA01061320;AJ238393;AJ710171;AK307590;AL132855;AMYH01005604;AY518538;BC112171;BC112173;CH471078;DA823104;DQ248310;EF179180;EF560725;EU747717;M17712;M21665;M25135;M25139;M27636;M27729;M57965;M58018;NG_007884;NM_000257;X03741;X04627;X04633;X05631;X06976;X51591;X52889 AAA36343;AAA36345;AAA51837;AAA60384;AAA60385;AAA62830;AAA79019;AAI12172;AAI12174;AAT44534;ABB55265;ABN05283;ABQ59035;ACH92815;BAD92945;CAA27381;CAA28300;CAA29119;CAA30039;CAA35940;CAA37068;CAC20413;EAW66151;EAW66152;EAW66153;NP_000248;P12883 Hs.719946 1338674;1340348;1741315;1742319;1742359;1743945;1852566;2161185;2176752;2190613;2191709;5016417;5024749;5120173;5491230 D14S49;D14S72;G36055;GDB:180410;GDB:196335;GDB:196475;GDB:198195;GDB:376871;MARC_1924-1925:991931692:3;MARC_5445-5446:996690391:1;MYH7;RH66825;RH93331;SHGC-6999;STS-N91549 CMD1S;CMH1;DKFZp451F047;MGC138376;MGC138378;MPD1;MYHCB;SPMD;SPMM OTTHUMP00000027949;beta-myosin heavy chain;myHC-beta;myhc-slow;myopathy, distal 1;myosin heavy chain (AA 1-96);myosin heavy chain 7;myosin heavy chain slow isoform;myosin heavy chain, cardiac muscle beta isoform;myosin heavy chain, polypeptide 7;myosin, heavy polypeptide 7, cardiac muscle, beta;myosin-7;rhabdomyosarcoma antigen MU-RMS-40.7A APPROVED protein-coding ENSG00000092054 7577 01175 160500;160760;181430;192600;608358;613426 REVIEWED 1317507 MYH7B myosin, heavy chain 7B, cardiac muscle, beta The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010] 20 20 20 q11.22 30292798 30339326 + 33026867 33053897 + 33543704 33590240 + 6480464;6907045 18634034;15014174;14702039;12477932;11919279;10819331;19913121;20224305;20628086;11329013;11780052;15489334;19948655;20154144;20520619;20035047;21139048;22266860;22703881;22216198 57644 A7E2Y1;Q5JW45;Q5JW46;Q5JW47;Q5JW48;Q5JW49 AB040945;ABBA01019172;ABBA01019173;AK000947;AL132825;AL133324;AMYH01011867;AMYH01011868;BC007808;BC069327;BC069406;BC151242;BG189104;CH471077;DB484143;NG_016984;NM_020884 A7E2Y1;AAH07808;AAH69327;AAH69406;AAI51243;BAA91440;BAA96036;EAW76236;EAW76237;EAW76238;NP_065935 Hs.414122 1654381;1712294;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;G54056;RH15946 MGC96928;MGC96940;MHC14;MYH14 OTTHUMP00000030720;U937-associated antigen;antigen MLAA-21;myosin heavy chain 7B, cardiac muscle beta isoform;myosin heavy chain-like;myosin, heavy polypeptide 7B, cardiac muscle, beta;myosin-7B;slow A MYH14 APPROVED protein-coding ENSG00000078814 15906 11379 609928 REVIEWED 1603931 MYL10 myosin, light chain 10, regulatory 7 7 7 q22.1 96264670 96280650 - 101043475 101059118 - 101256605 101272576 - 6480464 11256614;16381901;15489336;12477932;11076863;1628631;20877624;21832049;19794400 93408 Q9BUA6 ABBA01011319;AC004953;AMYH01017752;BC002778;CH471197;NM_138403 AAH02778;CAL38725;EAW50225;EAW50226;NP_612412;Q9BUA6 Hs.247831 5016478 GDB:434012 MYLC2PL;PLRLC OTTHUMP00000211530;myosin light chain 2, lymphocyte-specific;myosin light chain 2, precursor lymphocyte-specific;myosin regulatory light chain 10;precursor lymphocyte-specific regulatory light chain protein-coding ENSG00000106436 29825 17620 VALIDATED 1601728 MYL12B myosin, light chain 12B, regulatory The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008] 18 18 18 p11.31 3141594 3157815 + 3252135 3268179 + 3262111 3278282 + 6480464 21145461;21319273;22808956;19165527;15946647;15188056;15146197;12477932;11942626;10593918;14627618;19615732;19328794;20618440;22136066;22374324;19471022;21987572;21906983;21963094;22166199;17620599;20473970;21628590;19794400;20876399;21853274;22505724 103910 O14950 ABBA01049849;ABBA01049850;AK291726;AMYH01008778;AP005329;AV714583;AY320408;BC004994;BG696903;BG703257;CA307094;CH471113;CN302451;D50372;D82058;NM_001144944;NM_001144945;NM_033546;U26162 AAA67367;AAH04994;AAP73808;BAA23323;BAB88918;BAF84415;EAX01675;EAX01676;EAX01677;NP_001138416;NP_001138417;NP_291024;O14950 Hs.190086;Hs.464472 1664625 A002P09 MLC-B;MRLC2 MLC-2;MLC-2A;MLC20;OTTHUMP00000162244;OTTHUMP00000165806;OTTHUMP00000165807;OTTHUMP00000165808;SHUJUN-1;myosin regulatory light chain 12B;myosin regulatory light chain 2;myosin regulatory light chain 2-B, smooth muscle isoform;myosin regulatory light chain 20 kDa;myosin regulatory light chain MRLC2 APPROVED protein-coding ENSG00000118680 29827 10095 609211 VALIDATED 733783 MYL1 myosin, light chain 1, alkali; skeletal, fast Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 2 2 q33-q34 210863113 210888140 - 211154868 211179895 - 1580863;6480464 3904738;16344560;15489334;12477932;11707283;11071908;10998640;3601661;3422212;2777779;2458299;2304459;8145163;21731751;21832049;22939629;22131351;20518849;19738201;21890473;23000965;23319595;19794400;22505724 4632 P05976;Q53SD2 AA705167;ABBA01062734;ABBA01062735;AC021150;AC097525;AK311892;AK311942;AMYH01011462;AMYH01011463;BC005318;CH471063;CR456869;DA898482;J05026;J05027;M20643;NM_079420;NM_079422;X05451 AAA59855;AAA66960;AAA66968;AAH05318;AAY14720;AAY24177;BAG34833;BAG34883;CAA29020;CAG33150;EAW70483;EAW70484;EAW70485;NP_524144;NP_524146;P05976 Hs.187338 1734800;1734824;2110589;2165236;5127741 D12S2139;D2S1569E;D2S1582E;D2S2588;MYL1_7834 MLC1F;MLC3F A1 catalytic;A2 catalytic;MLC1/MLC3;MLC1F/MLC3F;OTTHUMP00000163941;OTTHUMP00000163942;myosin light chain 1/3, skeletal muscle isoform;myosin light chain A1/A2;myosin light chain alkali 1/2;myosin, light polypeptide 1, alkali; skeletal, fast APPROVED protein-coding ENSG00000168530 7582 01180 160780 REVIEWED 732401 MYH9 myosin, heavy chain 9, non-muscle This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011] 22 22 q13.1 35007272 35113927 - 36677323 36784063 - 1580863;1600553;1547864;6480464;6903274;6903241;6903242;6903238;6902925;6903237;6903243;6903256;6903258;6902926;6903254;6903235;6903239;6907045;7240710 10973259;15856021;22313957;19153477;20200500;19567477;12500226;18794854;20144966;21968013;21910715;11935325;21402784;11752022;19177153 22460785;20395239;21145461;21319273;22398565;15065866;15845534;12237319;14508515;16403913;15869600;15774463;10822899;12421915;16186248;1912569;11029059;7699007;15064761;14706930;19645626;19454694;19401332;19320731;19227191;19191864;19147824;18971378;18925516;18843042;18812466;18794856;18752571;18716610;18697221;18571626;18394644;18332220;18330899;18284620;18195072;18192507;18059020;17901043;17875677;17645784;17567956;17488351;17353931;17337617;17327270;17310241;17241369;17081983;17020881;16964243;16806139;16596254;16567366;16162639;16106752;16094384;16083285;15865432;15749830;15635413;15555549;15479433;15477207;15461802;15289939;15203218;12800156;12792306;12705885;12649151;12621333;12577067;12533692;12477932;12217806;11943476;11918549;11776386;11590545;11159552;11093280;11071640;11023810;10973260;10914687;10862698;10672519;10591208;9529381;9405067;9390828;8063857;8022818;7588733;6448079;1967836;1860190;1752022;603622;352343;8424456;11897493;16169070;14594945;20347641;14640694;15171681;18029348;19387472;19450438;19459928;19557653;19572073;19615732;19851296;19860543;19891592;19921264;20002731;20005488;20174760;20188514;20198315;20416459;20523037;20532800;20221761;20299374;20492585;20936779;19454010;20944748;21110983;16969126;17620599;21792479;22080149;22266860;22399300;22477015;22586326;20124285;20634883;20635188;20668430;20603234;20844233;22939629;21106542;20723023;21184743;17620012;18850735;19954613;21210153;21083612;17342744;19156129;19167051;20618440;21567368;21698141;21667320;23068101;22934964;21203488;21721535;21429915;21380797;20811636;21533124;23128239;21537348;20797700;21182205;22863883;21252943;16051665;21081666;21245129;21826056;19596686;22123909;21805244;21139048;21890473;21906983;22161839;22178446;21796764;21833445;22483112;20301607;20301740;22253476;16009940;20473970;22189356;22558294;22806255;22372535;23398456;23083320;23455922;23750785;22989438;23123319;23285077;23470845;16263121;19738201;19805454;20448150;21565611;21963094;21988832;22623428;23000965;23207509;20391533;22895805;23084401;19380743;21853274;21951916;22505724;22952844 4627 B1AH99;P35579;Q5BKV1;Q60FE2 AB191263;AB290175;ABBA01055437;ABBA01055438;ABBA01055439;AK025219;AK025393;AK131080;AK291609;AK304840;AL832639;AMYH01012749;AMYH01012750;AMYH01012751;BC011915;BC049849;BC090921;BC111387;CD614930;CH471095;CR383703;CR456526;D11393;DQ304679;HI574092;L29141;M31013;M69180;M81105;NG_011884;NM_002473;Z82215 AAA20904;AAA36349;AAA59888;AAA61765;AAH49849;AAH90921;AAI50170;AAI50171;ABC25483;BAA01989;BAC85130;BAD52439;BAF84298;BAG06729;BAG65583;CAD89954;CAG30412;CAK54557;CAK54856;CBX47535;EAW60096;EAW60097;EAW60098;NP_002464;P35579 Hs.474751 1336070;1339133;1339568;1340618;1644587;1657217;1694432;1731331;1796382;1857046;2129992;2135431;2178608;5117242;7185362 A008Z18;AL008664;D22S1244;D22S283;D22S284;D22S348;D22S445;D22S683;D22S693;G42919;GDB:452635;MYH9_1587;RH68678;RH78680 BDPLT6;DFNA17;EPSTS;FTNS;MGC104539;MHA;NMHC-II-A;NMMHC-IIA;NMMHCA MYH9 variant protein;NMMHC II-a;NMMHC-A;NMMHC-IIA;OTTHUMP00000165902;cellular myosin heavy chain, type A;myosin heavy chain 9;myosin heavy chain, non-muscle IIa;myosin, heavy polypeptide 9;myosin-9;non-muscle myosin heavy chain A;non-muscle myosin heavy chain IIa;non-muscle myosin heavy polypeptide 9;nonmuscle myosin heavy chain II-A APPROVED protein-coding ENSG00000100345 7579 01177 153640;153650;155100;160775;600208;603622;605249 REVIEWED 1606574 MYL12A myosin, light chain 12A, regulatory, non-sarcomeric 18 18 18 p11.31 3127027 3135734 + 3237528 3246234 + 3247528 3256234 + 6480464 17353931;17719568;15489334;12477932;11942626;8125298;2216787;22863883;22939629;22990118;15047060;21139048;21693764;21890473;21906983;17955473;18781797;22266860;19794400;22505724 10627 J3KT92;J3KTJ1;J3QRS3;P19105;Q53X45 ABBA01049849;AK222569;AK291145;AMYH01008778;AP005329;BC016372;BC031972;BC032748;CH471113;D82059;DQ185044;NM_006471;X54304 AAH16372;AAH31972;AAH32748;ABD14424;ABM83740;ABM87059;BAB88919;BAD96289;BAF83834;CAA38201;EAX01678;EAX01679;EAX01680;EAX01681;NP_006462;P19105 Hs.190086 1744303;1773211;2181314;5115050 GDB:451607;RH48209;RH69715;SHGC-12353 MLCB;MRCL3;MRLC3;MYL2B MLC-2B;OTTHUMP00000162243;myosin RLC;myosin regulatory light chain 12A;myosin regulatory light chain 2, nonsarcomeric;myosin regulatory light chain 3;myosin regulatory light chain MRCL3;myosin regulatory light chain MRLC3;myosin, light polypeptide, regulatory, non-sarcomeric (20kD) protein-coding ENSG00000101608 16701 14735 PROVISIONAL 737270 MYL2 myosin, light chain 2, regulatory, cardiac, slow Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 12 12 q24.11 109833032 109842764 - 111348623 111358404 - 1580240;1580241;1580863;6480464;6484113;6907045;7240710 9535554;11748309 16754800;9180271;11102452;8287067;16555005;8673105;15824735;19293840;19254691;18987303;18948272;18648664;18513529;18403758;17244674;16199542;15967462;15489334;14756420;12818575;12707239;12477932;12404107;12185584;11891719;11773029;10047984;7498159;2704627;1386340;11399775;16169070;17043135;17885681;19345098;19853701;19875404;20031618;20359594;9418861;20634891;20386496;20670370;21270382;21259275;22120626;21988832;22425609;21823217;21909109;22091967;20301725;22688514;23188716;23365102;19794400;23364009;23364394 4633 F8VWQ7;G3V1V8;P10916;Q6IB42 AA090235;ABBA01019876;AC002351;AF020768;AK312013;AMYH01004747;BC015821;BC031006;BC031008;BX538165;CH471054;CR456962;CR541957;M22815;NG_007554;NM_000432;S69022;X14332;X57542;X66141 AAA91832;AAB29658;AAB91993;AAH15821;AAH31006;AAH31008;ABM83734;ABM87054;BAG34951;CAA32510;CAA40761;CAA46931;CAG33243;CAG46755;EAW97943;EAW97944;EAW97945;NP_000423;P10916 Hs.75535 1778528;2107423;2144922;2160548 FB11E11;MYL2_7202;RH66394;WI-9038 CMH10;DKFZp779C0562;MLC2 MLC-2;MLC-2v;OTTHUMP00000241472;OTTHUMP00000241473;OTTHUMP00000241474;RLC of myosin;cardiac ventricular myosin light chain 2;myosin light chain 2;myosin regulatory light chain 2, ventricular/cardiac muscle isoform;myosin, light polypeptide 2;myosin, light polypeptide 2, regulatory, cardiac, slow;regulatory light chain of myosin;slow cardiac myosin regulatory light chain 2 APPROVED protein-coding ENSG00000111245 7583 01181 160781;608758 REVIEWED 1352827 MYL6P1 myosin, light chain 6 pseudogene 1 21 21 21 q22.3 30381257 30381921 - 44099938 44100782 - 45275604 45276268 - 10830953 54043 ABBA01074144;AMYH01012283;AP001053;AP001752;NG_000917 1766499 SHGC-149820 MYL6P myosin, light polypeptide 6, pseudogene APPROVED pseudo 7588 INFERRED 3254988 MYL6P3 myosin, light chain 6 pseudogene 3 10 10 10 q21.3 60198372 60283095 - 66599231 66683955 - 66929029 66929656 - 100129561 ABBA01019521;AL513321;AMYH01002783;NG_022957 pseudo 37812 INFERRED 3103162 MYL6P4 myosin, light chain 6 pseudogene 4 7 7 7 q34 136233159 136233506 + 141158179 141158526 + 141511710 141512057 + 642627 AACC02000020;ABBA01034110;AC004979;AMYH01017998;CH236950;NG_009428 pseudo 37813 INFERRED 3102872 MYL6P2 myosin, light chain 6 pseudogene 2 21 21 q22.2 26057951 26058417 + 40860254 40860720 + 100431168 ABBA01009337;AF121781;AMYH01012252;NG_021232 pseudo 23772 INFERRED 1350404 MYL8P myosin, light chain 8, pseudogene 6 6 6 p21.32 34861123 34861640 + 33405407 33415250 + 33306755 33307272 + 1300397 9545376 9521053;19851445 442204 ABBA01038143;AL662820;AL662827;AMYH01016245;BX248088;CR759793;CR759817;NG_005310;Z97183 1334825 D6S1701 BING3 pseudo 7589 INFERRED 736456 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 3 3 p21.3-p21.2 46874361 46879977 - 46899357 46904973 - 1580241;1580863;6480464;6907045;7240710 11748309 18513529;16675844;2789520;8673105;16754800;19293840;18403758;17717642;16199542;15489334;15342556;14516912;12707239;12477932;12404107;12186978;12021217;9990131;9614495;7498159;3979397;3417683;3357795;2784124;2536191;1479618;19853701;20031618;20359594;17207965;19913121;20628086;20618440;22266860;21890473;21988832;23000965;21823217;20301725;19794400;22505724 4634 E9PGV7;P08590 ABBA01024712;AC109583;AF174483;AJ709328;AK312044;AMYH01013135;BC009790;BP316922;CH471055;M24122;M24247;M76408;NG_007555;NM_000258;X07373 AAA59851;AAA59894;AAA59895;AAF91089;AAH09790;ADQ33184;BAG34981;CAA30292;EAW64791;EAW64792;NP_000249;P08590 Hs.517939 1662271;1735186;1741453;2161249 D3S2827E;D3S3888;GDB:181219;RH69103 CMH8;MLC1SB;MLC1V;VLC1 CMLC1;OTTHUMP00000164785;OTTHUMP00000165922;cardiac myosin light chain 1;myosin light chain 1, slow-twitch muscle B/ventricular isoform;myosin light chain 3;myosin, light polypeptide 3, alkali; ventricular, skeletal, slow;ventricular/slow twitch myosin alkali light chain APPROVED protein-coding ENSG00000160808 7584 01183 160790;608751 REVIEWED 1350723 MYL4 myosin, light chain 4, alkali; atrial, embryonic Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21-qter 42641427 42656044 + 45286428 45301045 + 1580863;6480464 16675844;9738905;9180271;14985854;16381901;16106982;15489336;15489334;12477932;11557734;11076863;10494800;10373429;9000508;6879193;3417683;2849544;2458299;2308163;2129532;2027757;22108332;19794400 4635 I3L1K6;I3L1R3;I3L3U1;I3L4B1;I3L532;P12829 ABBA01041118;AC068234;AC087649;AF116676;AMYH01008446;BC030228;BU658678;CH471231;H83803;M20641;M24121;M36172;M37074;NM_001002841;NM_002476;X13955;X52005;X58851;X58854;X58855 AAA36319;AAA59856;AAA59858;AAA59891;AAF71096;AAH30228;CAA32137;CAA36256;CAA41655;CAL37401;CAL37414;CAL37780;CAL38519;CAL38553;EAW57683;EAW57684;EAW57685;NP_001002841;NP_002467;P12829 Hs.463300 1655763;1668701;2105522;2137728;2145436;2170328;5014982 D17S2190;RH11785;RH36477;SHGC-11971;SHGC-30011;STS-X52005;stSG610846 ALC1;AMLC;GT1;PRO1957 myosin light chain 1, embryonic muscle/atrial isoform;myosin light chain 4;myosin light chain alkali GT-1 isoform;myosin, atrial/fetal muscle, light chain;myosin, light polypeptide 4, alkali; atrial, embryonic APPROVED protein-coding ENSG00000198336 7585 01176 160770 REVIEWED 1354290 MYL5 myosin, light chain 5, regulatory This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008] 4 4 p16.3 661711 665817 + 671711 675817 + 1580863;6480464 1284596;14702039;12477932;10722873;20201926;20098747;21832049;19794400 4636 D6RA88;D6RB15;D6RJ91;Q02045 ABBA01019337;AC107464;AK123974;AK125529;AMYH01013838;AMYH01013839;BC040050;L03785;NM_002477 AAA59890;AAH40050;NP_002468;Q02045 Hs.410970 MYLC2;OTTHUMP00000217187;OTTHUMP00000217188;OTTHUMP00000217190;OTTHUMP00000217193;myLC-2;myosin light chain 5;myosin regulatory light chain 5;myosin, light polypeptide 5, regulatory;superfast myosin regulatory light chain 2 APPROVED protein-coding ENSG00000215375 7586 01182 160782 REVIEWED 6481411 MYLK-AS2 MYLK antisense RNA 2 100873940 AC020634 APPROVED miscrna 40387 1317934 MYL7 myosin, light chain 7, regulatory 7 7 p21-p11.2 44144988 44147441 - 44178463 44180916 - 1580934;1580863;6480464 12083776 15621049;1429676;15489334;12847096;12757876;12477932;8207020;15735645;18718080;19794400 58498 C9JEG4;F8WD94;H7BZE4;H7C1B1;H7C243;H7C3E3;H7C482;Q01449 AACC02000110;ABBA01058215;AC006454;AK311869;AMYH01017209;BC027915;CH236960;CH471128;M94547;NM_021223;W17098 AAA59889;AAH27915;ADZ15827;BAG34810;EAW61117;NP_067046;Q01449 Hs.75636 5124848 RH98827 MYL2A;MYLC2A MLC-2a;MLC2a;OTTHUMP00000024743;OTTHUMP00000209242;OTTHUMP00000209244;OTTHUMP00000209245;myosin light chain 2a;myosin regulatory light chain 2, atrial isoform;myosin regulatory light chain 7;myosin, light polypeptide 7, regulatory protein-coding ENSG00000106631 21719 10105 613993 VALIDATED 1606964 MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 12 12 12 q13.13 56198479 56203915 + 54832602 54838038 + 56546204 56551771 + 6480464 22266860;22354994;2304459;15510214;2458299;18587628;15489334;12477932;8856505;2602161;21145461;14627618;10737800;21428964;21182205;22939629;21906983;20639865;21987572;21628590;19794400;22053931;22505724 140465 F8VSA2;F8W1I5;P14649 ABBA01008406;AC034102;AI349553;AK304594;AK310996;AMYH01004500;BC012425;BC014400;BU166567;CH471054;M31211;NM_001199629;NM_002475;X16434 AAA36320;AAH12425;AAH14400;ABM82232;ABM85417;BAG65380;CAA34457;EAW96894;EAW96895;EAW96896;EAW96897;EAW96898;NP_001186558;NP_002466;P14649 Hs.632731 5114708 STS-W02718 MLC1SA OTTHUMP00000243208;OTTHUMP00000243210;OTTHUMP00000243299;myosin alkali light chain 1 slow a;myosin light chain 1 slow a;myosin light chain 1 slow-twitch muscle A isoform;myosin light chain 1, slow-twitch muscle A isoform;myosin light chain 6B;myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle;smooth muscle and non-muscle myosin alkali light chain 6B;smooth muscle and nonmuscle myosin light chain alkali 6B APPROVED protein-coding ENSG00000196465 29823 14721 609930 REVIEWED 5144554 MYLK-AS1 MYLK antisense RNA 1 3 3 q21 121711334 121756604 + 123304403 123349668 + 12477932 100506826 ABBA01016451;ABBA01016452;ABBA01016453;AC023165;AMYH01013434;AV744989;BC042384;NR_038266 Hs.556600 1667587;1673124;1699598;1735100;1771665;2119363;2121090;2122277;2147888;2151433;2166249;2182440 A004V23;A006U08;D3S2779E;D3S4011;RH103400;RH16317;RH36624;RH45477;RH45994;RH77851;SGC34073;SHGC-77271 APPROVED miscrna ENSG00000239523 42440 VALIDATED 1322585 MYL9 myosin, light chain 9, regulatory Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 31876955 31885284 + 34603311 34611640 + 35169887 35178226 + 1582589;1580863;6480464 16076902 2526655;18480596;14702039;12477932;11942626;11780052;16169070;21251247;11283256;14627618;19724058;20308539;22863883;20473970;21139048;21906983;22266860;19794400;20876399 10398 P24844;Q71U02 ABBA01006576;AF176042;AF176043;AK097235;AK130879;AL050318;AL697699;AMYH01011881;BC002648;BQ953325;CH471077;CR456843;D82057;J02854;NM_006097;NM_181526 AAA59852;AAH02648;AAQ13653;AAQ13654;ACE86753;ACE87441;BAB88917;CAG33124;EAW76129;EAW76130;EAW76131;EAW76132;EAW76133;EAW76134;NP_006088;NP_852667;P24844 Hs.504687 1677402;5123983 RH75828;RH91464 LC20;MGC3505;MLC-2C;MLC2;MRLC1;MYRL2 20 kDa myosin light chain;MLC-2C;OTTHUMP00000030857;OTTHUMP00000030858;myosin RLC;myosin regulatory light chain 1;myosin regulatory light chain 2, smooth muscle isoform;myosin regulatory light chain 9;myosin regulatory light chain MRLC1;myosin regulatory light polypeptide 9;myosin, light polypeptide 9, regulatory APPROVED protein-coding ENSG00000101335 15754 17619 609905 REVIEWED 1313988 MYLIP myosin regulatory light chain interacting protein The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008] 6 6 p23-p22.3 16237296 16256458 + 16129317 16148479 + 1580863;6480464 21685362;10593918;14550572;19520913;16785530;15498874;15489334;12826659;12477932;11162443;11042152;19688294;19936222;20347265;17207965;20864672;21069265;22741812;21734303;21765216;22261164;20686565;22331829;22109552;22378787;23377640;23382078;23107276 29116 Q5TIA5;Q8WY64 ABBA01022179;ABBA01022180;AF006003;AF006004;AF187016;AF212221;AF258586;AJ420601;AK026739;AK074391;AK314648;AL021407;AMYH01016111;BC002860;BT007055;CH471087;NM_013262 AAF18974;AAF87323;AAG23789;AAH02860;AAP35704;AAQ13408;AAQ13409;ABW03635;ADQ31810;BAG37209;EAW55366;EAW55367;NP_037394;Q8WY64 Hs.484738 2147962;2180416 A004C26;WI-14205 IDOL;MIR E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor;E3 ubiquitin-protein ligase MYLIP;OTTHUMP00000018026;band 4.1 superfamily member BZF1;cellular modulator of immune recognition (c-MIR);inducible degrader of the LDL-receptor;myosin regulatory light chain-interacting protein APPROVED protein-coding 21155 17621 610082 REVIEWED 1346625 MYLKP1 myosin light chain kinase pseudogene 1 3 3 3 p13 75315323 75325848 - 75377699 75388223 - 75377699 75388223 - 10036190;21441351 9430 ABBA01030984;AC117481;AF042089;AMYH01013288;NG_009879 MYLKP myosin, light chain kinase pseudogene APPROVED pseudo 7591 INFERRED 1350870 MYLL1 myosin, light polypeptide, cardiac muscle-like 1 4639 7592 1354007 MYMY1 moyamoya disease 1 7240710 9973290 50960 1339957 D3S3050 16401 1345006 MYMY2 moyamoya disease 2 7240710 10754001 260295 21058 607151 1347577 MYMY3 moyamoya disease 3 7240710 15362573 493818 20769 1313756 MYL6 myosin, light chain 6, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 56204244 56207510 + 54838367 54841633 + 56552045 56555366 + 6480464 21145461;21319273;2304459;16953301;16189514;15489334;15146197;12477932;11436981;8856505;8188229;2722814;16169070;14627618;19615732;10737800;17207965;16159877;20797700;21182205;22863883;20308691;22939629;21693764;21890473;21906983;17620599;19471022;19794400;20876399;21853274;22505724 4637 B7Z6Z4;F8VPF3;F8VXL3;F8VZU9;F8W180;F8W1R7;G3V1V0;G3V1Y7;G8JLA2;H0YI43;J3KND3;P60660 AB046613;ABBA01008406;AC034102;AC073896;AMYH01004500;BC006781;BC017455;BC071661;BC093066;BG283793;CA427580;CH471054;CN401857;CR456839;CR457014;M22918;M22919;M22920;M31212;N84459;NG_029223;NM_021019;NM_079423;U02629 AAA20643;AAA36347;AAA36348;AAA59853;AAA59892;AAA59893;AAH06781;AAH17455;AAH71661;AAH93066;ACE86728;ACE87414;ADQ31951;ADZ15773;BAB62402;CAG33120;CAG33295;EAW96899;EAW96900;EAW96901;EAW96902;EAW96903;EAW96904;EAW96905;NP_066299;NP_524147;P60660 Hs.632717 1766499;2145126;2189431;5121790;5491343 D17S1993;MARC_5817-5818:991939742:3;Myln;SHGC-149820;WI-18807 ESMLC;LC17;LC17-GI;LC17-NM;LC17A;LC17B;MLC-3;MLC1SM;MLC3NM;MLC3SM 17 kDa myosin light chain;LC17;MLC-3;OTTHUMP00000243214;OTTHUMP00000243215;OTTHUMP00000243216;OTTHUMP00000243300;OTTHUMP00000243301;OTTHUMP00000243302;OTTHUMP00000243313;OTTHUMP00000243315;OTTHUMP00000243414;OTTHUMP00000243415;OTTHUMP00000243416;OTTHUMP00000243998;OTTHUMP00000243999;myosin light chain 3;myosin light chain A3;myosin light chain alkali 3;myosin light polypeptide 6;myosin, light polypeptide 6, alkali, smooth muscle and non-muscle;smooth muscle and non-muscle myosin alkali light chain;smooth muscle and nonmuscle myosin light chain alkali 6 APPROVED protein-coding ENSG00000092841 7587 17618 609931 REVIEWED 1343693 MYO15A myosin XVA This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 17 17 p11.2 17952745 18023841 + 18012020 18083116 + 1580863;1600554;6480464;7240710 9603736 10552926;19274735;17853461;17546645;14702039;12114748;11997338;11735029;11583965;10915760;7704031;16169070;22245518;15590698;19309289;19807924;20642360;20301607;23251661;22736430 51168 B4DFC7;B4DQJ3;G3V4G3;G3V4Q3;J3QS06;K7EL45;K7EMS7;K7EQV1;Q9UKN7 AB209423;ABBA01009738;AC087164;AF144094;AK055873;AK294036;AK297179;AK297641;AK298825;AK300529;AK310232;AL713794;AMYH01008164;AMYH01008165;BX538062;CH471196;NG_011634;NM_016239 AAF05903;BAD92660;BAG57388;BAG59671;BAG60011;BAG60955;BAH13297;CAD28548;CAD97993;EAW55663;EAW55664;EAW55665;EAW55666;EAW55667;NP_057323;Q9UKN7 Hs.462390 1851326;2134592;2163229;2218510;5014051;5015619;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;DRG2__4773;RH65958;RH78569;WI-13499 DFNB3;DKFZp686N18198;FLJ17274;FLJ31311;MYO15 OTTHUMP00000065690;myosin-XV;unconventional myosin-15;unconventional myosin-XV APPROVED protein-coding ENSG00000091536 7594 04049 600316;602666 REVIEWED 1604705 MYLK4 myosin light chain kinase family, member 4 6 6 6 p25.2 3892821 3980110 - 2608870 2696153 - 2663863 2751154 - 6480464 12471243;14702039;14574404;12477932;21145461;20379614 340156 C9JMC3;Q86YV6 ABBA01048628;ABBA01048629;AK090753;AK096893;AK122581;AK127360;AL138876;AL139092;AMYH01016025;BC132831;BC132833;BX647582;CH471087;NM_001012418 AAI32832;AAI32834;BAC56922;EAW55083;EAW55084;NP_001012418;Q86YV6 Hs.127830 1758373;1760065;1786060;5015961;5022200;5022578;5037552;5109281 D15S1477;D1S1423;D1S1425;D8S2279;L18426;SHGC-107581;SHGC-148182;SHGC-155644 SgK085 OTTHUMP00000015941;caMLCK like;myosin light chain kinase family member 4;sugen kinase 85 protein-coding ENSG00000145949 27972 17355 VALIDATED 1322095 MYLK myosin light chain kinase This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008] 3 3 q21 124813833 125085839 - 123331143 123603149 - 1581052;1580863;4891489;4891491;4891492;6480464 16399953;20035030;18766098;17472811 18710790;10536370;22015949;8575746;19429448;19277499;19264973;19011151;18828194;18521921;18496125;18363837;18218860;17266121;17244674;16835238;16723733;16306123;16284075;15825080;15817725;15681825;15507455;15087444;15056655;15020676;14741352;14702039;12477932;12460991;12408982;12110694;12107410;11976941;11481347;11306802;11113114;11062269;10748018;10402467;10362724;10198165;10092231;10036190;9806740;9160829;8889548;8294496;7947686;6547441;3160694;3079756;2160950;21297165;20453870;14627618;14968112;17474147;19706030;19826488;20081554;20098615;20181817;20207250;20861316;21055718;19913121;20628086;20053363;21652678;19549383;1519061;22623531;22219181;22377736;22135309;22318606;20301299;18029348;18574677;22505724;22808459 4638 B4DUE3;D6R9C2;F8WBL7;Q5MY99;Q6P2N0 AB037663;ABBA01016449;ABBA01016450;ABBA01016451;ABBA01016452;AC020634;AC023165;AC117381;AF069601;AF069602;AF069603;AF069604;AF096769;AF096770;AF096771;AF096773;AF096774;AF096775;AF172084;AK022278;AK025953;AK127437;AK300610;AK311053;AK314412;AK314443;AL832211;AMYH01013434;AMYH01013435;AY339601;AY424269;AY424270;BC015838;BC017811;BC034911;BC040115;BC062755;BC064420;BC064695;BC100761;BC100762;BC100763;BC107783;BC113456;BC113458;BM723621;BU678390;CA391484;CA391924;CA432076;CH471052;CR749364;DQ642691;DQ642692;NG_029111;NM_053025;NM_053026;NM_053027;NM_053028;NM_053031;NM_053032;U48959;X85337;X90870;Y09530 AAC18423;AAD15921;AAD15922;AAD15923;AAD15924;AAD51380;AAD51381;AAD54017;AAD54018;AAD54019;AAH17811;AAH64420;AAI00762;AAI00763;AAI00764;AAI07784;AAI13457;AAI13459;AAQ02673;AAQ13607;AAR29061;AAR29062;ABG25912;ABG25913;BAB21504;BAG37033;BAG37052;BAG62305;CAA59685;CAA62378;CAA70723;CAH18217;EAW79435;EAW79436;EAW79437;EAW79438;EAW79439;EAW79440;EAW79441;EAW79442;EAW79443;EAW79444;EAW79445;EAW79446;NP_444253;NP_444254;NP_444255;NP_444256;NP_444259;NP_444260;Q15746 Hs.477375 1336304;1699598;1731683;1753527;1771665;1854352;2119363;2122277;2147888;2160414;2166249;2182440;5014051;5015881;5016596;5022200;5022651;5037552 A004V23;A006U08;D11S2921;D3S1668;D3S3552;D8S2278;D8S2279;GDB:335751;GDB:631802;L18426;RH103400;RH36624;RH45477;RH77851;SHGC-107378;SHGC-77269;SHGC-77271;SHGC-77279 AAT7;DKFZp686I10125;FLJ12216;KRP;MLCK;MLCK1;MLCK108;MLCK210;MSTP083;MYLK1;smMLCK OTTHUMP00000180642;OTTHUMP00000180643;OTTHUMP00000215974;OTTHUMP00000225212;kinase-related protein;myosin light chain kinase, smooth muscle;myosin, light polypeptide kinase;smooth muscle myosin light chain kinase;telokin APPROVED protein-coding ENSG00000065534 7590 02952 600922;613780 REVIEWED 737455 MYLK2 myosin light chain kinase 2 This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008] 20 20 20 q13.31 27163525 27178847 + 29871045 29886153 + 30407178 30422500 + 1580243;1580244;1580863;6480464;7240710 12970723;9005973 16448786;15489334;14500714;12477932;11780052;11733062;10198165;9147985;8681137;2839493;17643375;18828194;19667195;18303054;19875381;21182205;20618440;19471022;21726808;20301559;20301725;21080425;21182203;22939624 85366 Q9H1R3 ABBA01019290;AF325549;AJ272502;AL160175;AMYH01011831;BC007753;BC069627;BC092413;BC127622;BX647635;CH471077;F22840;NG_012847;NM_033118 AAH07753;AAH69627;AAH92413;AAI27623;AAK15494;CAC81354;EAW76414;EAW76415;EAW76416;EAW76417;NP_149109;Q9H1R3 Hs.86092 2219956;5015961;5020274;5020948;5022450;5022578;5037552 D10S275;D15S1477;D1S1423;D8S2279;G35510;L18441;MYLK2__6189 KMLC;MLCK;MLCK2;skMLCK OTTHUMP00000030560;OTTHUMP00000030561;myosin light chain kinase 2, skeletal muscle;myosin light chain kinase 2, skeletal/cardiac muscle APPROVED protein-coding ENSG00000101306 16243 05953 192600;606566 REVIEWED 6483990 MYO16-AS1 MYO16 antisense RNA 1 13 q33.3 109816253 109819651 - 11329013 100885782 ABBA01027013;AL161431;AMYH01005369;BG181984;NR_047700 Hs.655942 APPROVED miscrna ENSG00000236242 39913 VALIDATED 6481276 MYO16-AS2 MYO16 antisense RNA 2 100874067 AL353143 APPROVED miscrna 39914 1604762 MYLK3 myosin light chain kinase 3 Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008] 16 16 16 q11.2 31244379 31290436 - 45293695 45339722 - 46736194 46782221 - 6480464 18390750;18202317;17885681;16344560;15489334;12477932;22623531 91807 Q32MK0 AB451455;ABBA01013770;AC007225;AJ247087;AK299443;AL691746;AMYH01007642;BC039103;BC109096;BC109097;CH471092;CR739116;DA561361;NM_182493 AAI09098;BAG70269;BAH13034;CAC42766;EAW82687;NP_872299;Q32MK0 Hs.130465 1853249;5015404;5016596;5020948;5021396;5022450;5022576;5037552;5109663 D10S275;D16S2989;D1S1361;D7S2067E;D8S2279;G35510;GDB:313783;GDB:631802;L17705 MGC126319;MGC126320;MLCK;MLCK2;caMLCK MLC kinase;OTTHUMP00000163365;cardiac-MLCK;cardiac-MyBP-C associated Ca/CaM kinase;cardiac-MyBP-C-associated Ca/CaM kinase;myosin light chain kinase 3;putative myosin light chain kinase 3 APPROVED protein-coding 29826 11281 612147 VALIDATED 1603646 MYLPF myosin light chain, phosphorylatable, fast skeletal muscle 16 16 16 p11.2 29909334 29912521 - 30293624 30296811 + 30386123 30389310 + 6480464 6091059;6179945;15489334;14756420;12477932;17207965;19156129 29895 H3BML9;H3BN54;H3BPK4;Q96A32 ABBA01042021;AC127457;AF363061;AK314082;AMYH01007497;BC012571;BX649054;CH471192;CR456963;M21812;NM_013292;X57543 AAA91848;AAH12571;AAK52797;ADQ32659;BAG36780;CAA40762;CAG33244;EAW52254;EAW52255;NP_037424;Q96A32 Hs.50889 1663773;1681646;1683868 G30670;RH66827;RH91354 DKFZp779C0757;HUMMLC2B;MGC13450;MRLC2;MYL11 MLC2B;OTTHUMP00000163232;fast skeletal myosin light chain 2;myosin light chain 2;myosin regulatory light chain 2, skeletal muscle isoform;myosin, light chain 11, regulatory protein-coding ENSG00000180209 29824 13721 PROVISIONAL 1316238 MYO10 myosin X This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] 5 5 p15.1-p14.3 16715016 16989385 - 16662016 16936385 - 1580863;6480464 21145461;19204726;18818677;18599451;18295593;17081983;16894163;16371656;16344560;15158464;15156152;14760703;14702039;12477932;12055636;11278607;10984435;10610710;9872452;8884266;16169070;19615732;20123970;20379614;20930142;21321230;21642953;20811636;14676191;21139048;21987572;20682791;18029348;23083060;21963094;23251661;23377640;23398456;23400010 4651 D6RGD1;E7EPL7;E9PCN3;E9PEW5;Q8IVX5;Q9HD67 AB018342;ABBA01020665;ABBA01020666;ABBA01020667;ABBA01020668;ABBA01020669;ABBA01020670;ABBA01020671;ABBA01020672;ABBA01020673;ABBA01020674;AC010310;AC010607;AC024588;AF132021;AF132022;AF184153;AF234532;AF247457;AI086647;AK001501;AK024719;AK025921;AK074717;AK125246;AK295630;AK295736;AK303459;AK316138;AL832428;AMYH01014931;AMYH01014932;AMYH01014933;BC014956;BC032669;BC041694;BC050682;BC071965;BC094838;BC108736;BC137168;BC150285;CA488271;CH471102;DA504301;NM_012334 AAF17363;AAF36524;AAF36525;AAF37875;AAF68025;AAH41694;AAH50682;AAH71965;AAH94838;AAI08737;AAI37169;AAI50286;BAA34519;BAC11158;BAG58507;BAG64502;BAH12170;BAH14509;CAH10611;EAX08016;EAX08017;EAX08018;NP_036466;Q9HD67 Hs.481720 1335723;1337006;1669242;1670535;1719681;1725555;1729577;1750705;1755401;1787734;1847383;1857951;1857953;2128004;2140697;2173954;5037552;5093792;5127919;7183819 A001Y40;A009W42;D5S2114;D5S257;D5S416;D8S2279;G19798;G32927;RH11757;RH119176;RH123841;RH12416;RH12641;SHGC-112200;SHGC-142278;SHGC-152276;SHGC-173063;STS-N23153;STS-N35986 FLJ10639;FLJ21066;FLJ22268;FLJ43256;KIAA0799;MGC131988 OTTHUMP00000220773;myosin-X;unconventional myosin-10;unconventional myosin-X;unconventionnal myosin-X APPROVED protein-coding 7593 03283 601481 REVIEWED 1352895 MYO19 myosin XIX 17 17 17 q12 31673687 31713368 - 31925712 31964838 - 34851599 34891305 - 737633;1580863;6480464 12477932 17877792;18029348;19932026;8889548;21906983;22797925 80179 B4DSL5;B4E218;B7Z1T7;K7EJW5;K7EMZ0;K7EP95;K7EQ57;K7EQI7;K7ERE8;K7ES03;Q96H55 AA631248;AB209035;ABBA01012425;ABBA01012426;AC126327;AC233700;AK026518;AK293903;AK299802;AK304073;AL133017;AMYH01008361;AY545559;BC008900;BC036325;BM661625;BM921100;BU543266;CD656712;CH471199;NM_001033580;NM_001163735;NM_025109 AAH08900;AAS50154;BAB15495;BAD92272;BAG61677;BAG64980;BAH11623;EAW57556;EAW57557;EAW57558;EAW57559;EAW57560;EAW57561;NP_001028752;NP_001157207;NP_079385;Q96H55 Hs.302051 1687638;1734524;1739647;1852981;2124875;2127978;2151181;5107980 D17S1459E;D17S1724E;RH11528;RH18449;RH67774;RH91524;SHGC-31539;WI-22201 FLJ22865;MYOHD1 myosin head domain containing 1;myosin head domain-containing protein 1;myosin-XIX;unconventional myosin-XIX protein-coding ENSG00000141140 26234 10107 VALIDATED 1317346 MYNN myoneurin This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010] 3 3 3 q26.2 167889333 167905983 + 170973547 170988032 + 169490853 169507504 + 6480464 10873615;18676680;15489334;21145461;14702039;14694499;12477932;16344560;17409414;18316326;19170196;19625176;19692168;20190752;20386695;20936779;20972440;18029348;21833088;21906983;19322201;23001564;23535734 55892 Q7Z717;R4GMT1 AB079777;AB079778;AB079779;ABBA01058704;AC078795;AC078802;AF076249;AF148848;AF155508;AK021646;AK092022;AK304281;AK307916;AK312527;AL133070;AMYH01013642;AY286322;AY286328;AY514901;AY515691;AY515692;AY541760;AY541761;BC020610;BC033620;BX648128;CH471052;DB134736;DC362274;NM_001185118;NM_001185119;NM_018657;NR_033702;NR_033703 AAF73138;AAF74822;AAF80160;AAH20610;AAH33620;AAP44763;AAP44764;AAR99055;AAS38566;AAS38567;AAS87376;AAS87377;ABM82522;ABM85716;BAB13862;BAC55898;BAC55899;BAC55900;BAG35426;BAG52468;BAG65141;BAI46624;CAB61393;CAI46035;EAW78544;EAW78545;EAW78546;NP_001172047;NP_001172048;NP_061127;Q9NPC7 Hs.507025;Hs.630744 1768351;2147989;2147991;2217656;5017779 A005B19;G20242;MYNN;MYNN_2243;SHGC-77521 OSZF;SBBIZ1;ZBTB31;ZNF902 myoneurin;zinc finger and BTB domain-containing protein 31;zinc finger protein with BTB/POZ domain APPROVED protein-coding ENSG00000085274 14955 06920 606042 REVIEWED 1345573 MYO15B myosin XVB pseudogene 17 17 17 q25.1 70174236 70213014 + 71095734 71134159 + 73584139 73622929 + 1580863;6480464 16189514;18316326;14702039;12477932;11964073;11347906;11294886;10737800 80022 I3L077;Q96JP2 AB058686;ABBA01028776;ABBA01028777;ABBA01028778;AC087749;AF418286;AF418287;AF418288;AF418289;AF418290;AF418291;AF418292;AF418293;AK025259;AK026339;AK074680;AK096869;AK097896;AK126458;AL713730;AMYH01008635;BC027875;BC033247;BC128044;BI011320;BK000056;CQ783956;NR_003587 BAB15453;BAB47412;BAG10147;CAD28520;CAF86943 Hs.390817 1337159;1676834;1688080;1688082;1734470;1740005;2167578;5015619;5020740;5021228;5022200;5024756;5037552;5037554;5124601 Cda08d05;D11S3114;D15S952;D17S1433E;D8S2279;D8S2282;DXS8011;GDB:312794;L17809;L18426;RH78659;RH80030;RH91485;RH92398;RH98978 FLJ21606;FLJ22686;FLJ40577;FLJ44494;KIAA1783;MYO15BP myosin XVB;myosin xvb, pseudogene pseudo ENSG00000188126;ENSG00000266714 14083 VALIDATED 1349934 MYO18B myosin XVIIIB The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008] 22 22 q12.1 24468120 24757007 + 26138120 26427007 + 1580863;6480464 17474147;12547197;18519826;17294804;17081983;16499872;15305387;14702039;12741677;12209013;10591208;12477932;18029348;20379614;20713499;21294900;21139048;23423138 84700 F5GXR6;F5H6I8;H0YGQ4;Q96KR9 AB042648;AB075376;ABBA01055182;ABBA01055183;ABBA01055184;ABBA01055185;ABBA01055186;ABBA01055187;ABBA01055188;AJ271918;AJ310931;AJ310932;AK095943;AK123936;AL022329;AL079300;AL080245;AL833890;AMYH01012680;AMYH01012681;AMYH01012682;AY077700;BC144596;BC144597;BC150626;CH471095;CR749556;NM_032608;Z98949 AAI44598;AAI50627;AAL75811;BAB55550;BAC04656;BAC16363;CAC70712;CAC70714;CAC81082;CAD38746;CAH18353;EAW59702;EAW59703;EAW59704;EAW59705;EAW59706;EAW59707;EAW59708;NP_115997;Q8IUG5 Hs.417959 1338756;1340964;2111284;7185225 D22S1148;D22S429;D22S538 DKFZp434C2422;DKFZp779C1668;FLJ41942 OTTHUMP00000198632;OTTHUMP00000239235;OTTHUMP00000239236;myosin 18B;myosin-XVIIIb;unconventional myosin-XVIIIb APPROVED protein-coding ENSG00000133454 18150 09529 607295 REVIEWED 1604637 MYO16 myosin XVI 13 13 13 q33.3 90093241 90704849 + 108046501 108658356 + 109248500 109860355 + 6480464 11588169;17029291;14702039;12477932;12421765;10048485;8889548;19913121;20628086;20201926;20379614;23535033;21946561;18029348;22763476;23064961;23251661;23509613 23026 B4DZI1;F8W883;Q8N948 AB020672;AB290159;ABBA01027013;ABBA01027014;ABBA01027015;ABBA01027016;ABBA01027017;AI692718;AK095691;AK127806;AK302933;AL136132;AL157771;AL161431;AL353143;AL390918;AL512648;AL834447;AMYH01005366;AMYH01005367;AMYH01005368;AMYH01005369;BC146791;BM682627;BM723424;NM_001198950;NM_015011 AAI46792;BAA74888;BAC04608;BAC87143;BAG06713;BAG64093;CAD39107;NP_001185879;NP_055826;Q9Y6X6 Hs.656587 1335373;1647717;1705090;1707230;1709500;1710500;1723165;1743225;1751505;1768143;1852917;2111582;2166365;2178704;2181446 D13S1205;D13S1265;D13S1533;D13S1660;G17727;G17754;GDB:305493;RH123767;RH47119;SHGC-105294;SHGC-79208;SHGC-79962;SHGC-81807;SHGC-86270;SHGC-9496 KIAA0865;MYR8;Myo16b;NYAP3 MYO16 variant protein;OTTHUMP00000018693;OTTHUMP00000018694;OTTHUMP00000018695;myosin heavy chain Myr 8;myosin-XVI;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3;unconventional myosin-16;unconventional myosin-XVI protein-coding ENSG00000041515 29822 14795 VALIDATED 1605490 MYO18A myosin XVIIIA 17 17 q11.2 24424654 24531533 - 27400528 27507407 - 6480464 18854160;9918798;19006078;17081983;16713569;16087679;16083285;15835906;15491607;15489334;15302935;14702039;12761286;12477932;10733938;9039502;8663107;21145461;18029348;18443188;19837035;19923322;20379614;20936779;21751808;14676191;21139048 399687 E9PN42;H0YEV9;J3KNX9;K7EKB3;Q92614;Q9NYE8 AB177858;AB177860;ABBA01015032;ABBA01015033;ABBA01015034;AC005412;AC024619;AF252258;AK122870;AK294180;AK302505;AK302725;AK303522;AMYH01008286;AMYH01008287;AY703984;BC039612;BM544214;CH471159;CR933614;D86970;NM_078471;NM_203318 AAF70181;AAH39612;AAV80770;BAA13206;BAD66836;BAD66838;BAG53770;BAG57498;BAG63783;BAG63944;BAG64550;CAI45931;EAW51177;EAW51179;EAW51183;NP_510880;NP_976063;Q92614 Hs.462590 1339933;1681117;1682601;1690127;1703946;1708640;1722793;1736676;1763383;1783474;2108277;5113746;5491587 D17S1502E;D17S1873;G60338;MARC_23519-23520:1046465531:1;MYO18A__7317;RH39291;RH67783;RH68312;RH98718;SHGC-13103;SHGC-147104;SHGC-83656;SHGC-85120 DKFZp686L0243;KIAA0216;MYSPDZ;SPR210 MAJN;OTTHUMP00000232720;OTTHUMP00000232721;OTTHUMP00000232722;SP-A receptor subunit SP-R210 alphaS;molecule associated with JAK3 N-terminus;myosin 18A;myosin containing PDZ domain;myosin containing a PDZ domain;myosin-XVIIIa;unconventional myosin-XVIIIa protein-coding ENSG00000196535 31104 10106 610067 VALIDATED 1345169 MYO1A myosin IA This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011] 12 12 q13-q14 55708568 55730160 - 57422301 57444549 - 1580863;1600218;6480464;7240710 12736868 2161834;8692943;9858156;18599791;17981900;16936815;15489334;12596055;12477932;11916846;11474115;10653589;8884266;8022818;2606897;12812986;19615732;20379614;21145461;7584027;23002058;22307608;20301607;22367206;20473970 4640 B2R643;C9JU63;F5GWY8;G3V342;G3V587;Q9UBC5 ABBA01008447;AC026120;AF009961;AF105424;AF127026;AK300381;AK312431;AMYH01004511;BC059387;CH471054;D25786;L29137;NG_012104;NM_001256041;NM_005379 AAA20900;AAC27437;AAC78645;AAD31189;AAH59387;BAG35340;BAG62116;EAW96981;EAW96982;EAW96983;NP_001242970;NP_005370;Q9UBC5 Hs.5394 1689167;1746397 G64470;RH93197 BBMI;DFNA48;MIHC;MYHL BBM-I;OTTHUMP00000195072;OTTHUMP00000195074;OTTHUMP00000244867;brush border myosin I;brush border myosin-I;myosin I heavy chain;myosin, heavy polypeptide-like (100kD);myosin-Ia;unconventional myosin-Ia APPROVED protein-coding ENSG00000166866 7595 08371 601478;607841 REVIEWED 737188 MYO1C myosin IC This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008] 17 17 p13.3 1314230 1342751 - 1367480 1396001 - 1580863;6480464 16514417;9858156;19027848;18599791;17081983;16960872;16957816;16877530;16603771;17620012;21402783;16344560;16133118;15558034;15342556;15302935;15146197;12477932;11030652;9119401;8884266;8719884;17353931;19615732;19729515;20308691;22328521;22939629;21182205;17620599;22266860;22586326;22745667;21139048;21890473;21906983;21963094;18781797;19596686;21987572;22178446;16300736;20473970;21565611;23000965;23262137;23398456;23438938;19380743;20876399;22952844;23555303 4641 F5H6E2;I3L168;I3L204;I3L2C3;I3L3F5;I3L3Y6;I3L4D4;I3L501;O00159 AB210015;ABBA01054664;ABBA01054665;ABBA01054666;AC100748;AI220881;AK172742;AK292910;AK295761;AK304782;AMYH01007997;AMYH01007998;AMYH01007999;AMYH01008000;BC044891;BC068013;BC127784;BP255642;BP284965;CA422782;CD050346;CH471108;CN313279;DB241937;NM_001080779;NM_001080950;NM_033375;X98507 AAH44891;AAH68013;AAI27785;BAE06097;BAF85599;BAH12181;BAH14256;CAA67131;EAW90619;EAW90620;NP_001074248;NP_001074419;NP_203693;O00159 Hs.286226 1650449;1736690;2137516;5014053 A004Q21;D17S1510E;D1S3693;RH70953 FLJ23903;MMI-beta;MMIb;NMI;myr2 OTTHUMP00000115372;myosin I beta;myosin-I beta;myosin-Ic;nuclear myosin I;unconventional myosin-Ic APPROVED protein-coding ENSG00000197879 7597 09411 606538;614131 REVIEWED 1350940 MYO1H myosin IH 12 12 12 q24.11 109450872 109510550 + 108310871 108370561 + 109826524 109886176 + 6480464 16344560;14702039;11181995;20864672;22196185 283446 B4DNW6;F5GZA3;F5H3C6;Q8N1T3 ABBA01005069;AC007570;AC012384;AK094906;AK298093;AMYH01004736;AMYH01004737;BU616423;CH471054;CR747253;DB339279;DC359165;DC401393;DV080092;DV080385;DV080459;DV080460;DV080477;NM_001101421 BAC04454;BAG60378;EAW97858;EAW97859;NP_001094891;Q8N1T3 Hs.512008 1340708;2169225;2172417;2172419 D12S1583;G12110;WI-15687;WI-16017 FLJ37587 OTTHUMP00000240538;myosin-1H;myosin-Ih;unconventional myosin-Ih protein-coding ENSG00000174527 13879 08227 614636 PROVISIONAL 735320 MYO1B myosin IB 2 2 2 q12-q34 185704728 185884766 + 191818375 191998287 + 192110107 192290115 + 1580863;6480464 8449985;18599791;16219689;15489334;15146197;14702039;12486594;12477932;11509238;8719884;8022818;17353931;21145461;21182205;21674799;21666684;22266860;22354994;22586326;21139048;21890473;21906983;22001757;20473970;20682791;19523119;19805454;23000965;23251661;23398456;20876399;22505724 4430 B0I1S9;C9JUP5;C9JYW1;C9K0I9;E7EPB4;E7EQD9;E9PDF6;H7C2Y7;O43795 AB290176;ABBA01062395;AC068056;AC092614;AC118061;AC133534;AI751497;AJ001381;AJ001382;AK000160;AK022489;AK074978;AMYH01011350;AMYH01011351;AMYH01011352;BC021665;BC053558;BC060849;BF061446;BG563224;BQ027157;BQ650834;CA435949;CH471058;CN295039;DB461518;L29138;NM_001130158;NM_001161819;NM_012223 AAA20901;AAH21665;AAH53558;ACE86771;ACE87457;BAG06730;BAG52044;CAA04712;CAA04713;EAX10839;EAX10840;EAX10841;EAX10842;EAX10843;EAX10844;EAX10845;NP_001123630;NP_001155291;NP_036355;O43795 Hs.439620 1644241;1654549;1718169;1718303;1750331;1848637;2141765;2172800;2184580;2219958;5093502;5123818 A009P46;G09498;G32756;MYO1B__6193;RH122853;RH122923;RH66000;RH69381;RH70476;SHGC-112645;SHGC-33894;SHGC-36003 myr1 MMI-alpha;MMIa;MYH-1c;MYO1B variant protein;OTTHUMP00000163591;OTTHUMP00000163592;OTTHUMP00000165861;OTTHUMP00000205475;myosin I alpha;myosin-I alpha;myosin-Ib;unconventional myosin-Ib protein-coding ENSG00000128641 7596 08407 606537 VALIDATED 1350355 MYO1E myosin IE This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012] 15 15 15 q21-q22 36316513 36553029 - 57215855 57452363 - 59428168 59665071 - 1580863;6480464 7932763;17257598;12477932;11940582;9858156;9367879;8884266;8022818;21145461;20379614;20860408;16712791;17620012;21756023;22863883;22939629;21697813;21139048;21906983;18781797;21987572;22266860;21890473;21963094;22916037 4643 H0YLE5;H0YLJ4;H0YN00;H0YNB0;H0YNQ8;Q12965;Q4KMR3 AB290177;ABBA01038963;ABBA01038964;ABBA01038965;ABBA01038966;ABBA01038967;ABBA01038968;ABBA01038969;AC092756;AC092757;AC092868;AK291688;AL707587;AMYH01006683;BC098392;BQ054624;BX489024;CA429161;CB128582;CH471082;L29139;NG_031999;NM_004998;U14391 AAA20902;AAA62667;AAH98392;BAF84377;BAG06731;EAW77564;NP_004989;Q12965 Hs.654506 1644654;1694994;1697414;1712653;1756807;1770988;1777435;2130700;2133388;2139577;2158099 D15S1194;G44710;RH102207;RH121991;RH46187;RH68605;SHGC-143944;SHGC-53200;STS-AA031593;STS-L17330;STS-U14391 FSGS6;HuncM-IC;MGC104638;MYO1C MYO1E variant protein;myosin-IC;myosin-Ie;unconventional myosin 1E;unconventional myosin-Ie APPROVED protein-coding ENSG00000157483 7599 03281 601479;614131 REVIEWED 1349117 MYO1D myosin ID 17 17 17 q11-q12 27729830 28114502 - 27843741 28228015 - 30819628 31203902 - 1580863;6480464 21145461;19165527;17376794;15489334;12477932;9872452;8884266;17353931;20686608;19913121;20628086;21674799;22990118;19389623;22322875;21139048;21890473;21906983;22586326;20473970;19380743;20876399;19805454;23000965;23396134;23398456 4642 J3KRL0;J3QRN6;J3QRR2;K7EIG7;O94832 AB018270;ABBA01000719;ABBA01000720;ABBA01000721;ABBA01000722;ABBA01000723;ABBA01000724;ABBA01000725;ABBA01000726;ABBA01000727;ABBA01000728;ABBA01000729;AC007982;AC025211;AC079336;AC084809;AK026907;AK026920;AK127942;AMYH01008337;AMYH01008338;AMYH01008339;AMYH01008340;BC030602;BC030796;BC146763;BX537615;CH471147;NM_015194 AAH30796;AAI46764;BAA34447;CAD97800;EAW80221;EAW80222;EAW80223;EAW80224;EAW80225;NP_056009;O94832 Hs.602063 1341544;1705986;1724157;1750325;1754833;2176679 D17S1880;RH121212;RH16332;SHGC-112514;SHGC-141753;SHGC-78626 KIAA0727;myr4 myosin-I gamma;myosin-Id;unconventional myosin-Id protein-coding ENSG00000176658 7598 07581 606539 PROVISIONAL 3476781 MYO5BP1 myosin VB pseudogene 1 9 9 p11.2 45259839 45268015 + 45369843 45378019 + 441420 AL845472;AMYH01020511;NG_022974 1701614 RH104448 pseudo 38495 INFERRED 3498030 MYO5BP2 myosin VB pseudogene 2 9 9 q13 66245302 66254942 + 66513025 66514307 + 6480464 392335 AL512625;AMYH01021067;NG_021658 1701614 RH104448 pseudo 38496 INFERRED 3476709 MYO5BP3 myosin VB pseudogene 3 9 9 q13 67846274 67857029 - 68357278 68358560 - 441442 ABBA01039236;AL772155;AMYH01021214;NG_021621 1701614 RH104448 pseudo 38497 INFERRED 1320254 MYO1F myosin IF 19 19 19 p13.3-p13.2 8443349 8501002 - 8491996 8548307 - 8585674 8642331 - 1580863;6480464 9119401;19027848;18391951;17081983;16189514;15489334;14702039;12477932;11804589;8884266;8022818;16344560;21890473;21906983;20881960;20876399 4542 M0QXE0;M0QXU2;M0QXU5;M0QY89;O00160;Q4LE34 AB210037;AB290178;ABBA01010835;ABBA01010836;ABBA01010837;ABBA01010838;ABBA01010839;ABBA01010840;ABBA01010841;AC092298;AC092316;AC124902;AC130469;AJ310570;AK131106;AK301166;AMYH01009443;BC028071;CH471139;DA380582;L29140;NM_012335;U57053;X98411 AAA20903;AAC50726;AAH28071;ABM82002;ABM82011;ABW03355;BAC85156;BAE06119;BAG06732;BAG62755;CAA67058;CAC83948;EAW68909;EAW68910;EAW68911;EAW68912;NP_036467;O00160 Hs.465818 1338370;2108279;2164554 D19S391;MYO1F_8481;RH65685 OTTHUMP00000209063;myosin-ID;myosin-Ie;myosin-If;unconventional myosin-If protein-coding ENSG00000142347 7600 03282 601480 VALIDATED 731453 MYO5A myosin VA (heavy chain 12, myoxin) This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] 15 15 q21 50386770 50608539 - 52599480 52821247 - 1580863;1600819;1600821;2302397;6480464;7240710 9207796;12058346;18570632 12531900;10448864;11980908;18029348;9852149;10391919;19320733;19008234;18676680;18478159;18401430;18330901;17898234;17891151;17635110;17487986;17029413;16097034;15788565;15772161;15117313;15059972;14730011;14702039;12897212;12603861;12403814;12148598;12147688;12062444;12006666;11870218;11856727;11432975;10844022;10733681;10704277;10529054;9826529;8889548;8188282;8022818;7835087;11546872;11148209;19009530;19170196;19521958;19590514;19625176;19692168;19808891;20379614;20203291;20631136;21245139;21349835;21139048;22172676;21740491;22437832;22586326;20473970;23176491;18311135 4644 A8CDT9;E7ERV5;F8W6H6;F8WE88;G3V394;G3V3C9;O95317;Q9UES4;Q9UES5;Q9Y4I1 AB209487;AB209505;AB290180;ABBA01039061;ABBA01039062;ABBA01039063;ABBA01039064;AC010674;AC018902;AC025917;AF055459;AF090424;AF090425;AF090426;AF090427;AF090428;AK090859;AK124898;AK303660;AK307600;AMYH01006651;AMYH01006652;AMYH01006653;BU738571;CH471082;EU921839;NG_009887;NM_000259;NM_001142495;S74799;U90942;Y07759 AAB33211;AAC14188;AAC83701;AAC83702;AAC83703;AAC83704;AAC83705;AAD00702;AAI56393;AAI72485;ACH48182;BAD92724;BAD92742;BAF80583;BAG64659;CAA69035;CAA69036;EAW77447;EAW77448;EAW77449;EAW77450;EAW77451;EAW77452;EAW77453;NP_000250;NP_001135967;Q9Y4I1 Hs.21213;Hs.596221 1339116;1665380;1669591;1691294;1700504;1780110;1780150;1796384;2113850;2114174;2130158;2154020;2186375;5037552;5094852 A004G21;AB060208;D15S1032;D8S2279;MYO5A;MYO5A_1542;RH103873;RH66379;RH69927;RH80631;SHGC-154423;SHGC-154476;STS-R41828;WI-12413;WI-19762 GS1;MYH12;MYO5;MYR12 OTTHUMP00000174452;OTTHUMP00000174453;OTTHUMP00000245239;dilute myosin heavy chain, non-muscle;myosin V;myosin, heavy polypeptide kinase;myosin-12;myosin-Va;myoxin;unconventional myosin-Va APPROVED protein-coding ENSG00000197535 7602 01179 160777;214450 REVIEWED 1349635 MYO3A myosin IIIA The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008] 10 10 p11.1 26263008 26541471 + 26223002 26501465 + 1580863;1600555;6480464;7240710 12032315 12672820;17021180;18229949;17074769;17012748;15761153;15302935;15203218;15164054;12477932;10936054;16169070;1262820;16385451;19229853;20090771;20610541;20826793;23534349;20301607;23251661 53904 B1ANA3;F5H0U9;Q4G0X2;Q8NEV4 ABBA01034422;ABBA01034423;ABBA01034424;ABBA01034425;AF229172;AK310468;AK310494;AL162503;AL358612;AL360217;AL391812;AMYH01002199;AMYH01002200;AY101367;BC036079;BC045538;BC119811;BC125272;CD628204;CD628208;CH471072;CK903348;NG_011635;NM_017433 AAF70861;AAH36079;AAH45538;AAI19812;AAI56363;AAM34500;EAW86105;NP_059129;Q8NEV4 Hs.662630 1335209;1338180;1658490;1680815;1758403;1759261;1782222 D10S1160;D10S1775;D10S2481;RH92482;SHGC-148251;SHGC-150838;SHGC-84170 DFNB30 OTTHUMP00000019339;myosin-IIIa APPROVED protein-coding ENSG00000095777 7601 06008 606808;607101 REVIEWED 1352249 MYO3B myosin IIIB 2 2 2 q31.1-q31.2 164651295 165128332 + 170742901 171219237 + 171034655 171511674 + 6480464 15815621;14702039;12631723;11991710;12477932;20200978;20379614;21674799;22589738;22623531;20972266;22939624;23251661;23362303 140469 B7ZM71;F5H2J1;H7C1M9;Q8IX68 ABBA01014907;ABBA01014908;ABBA01014909;ABBA01014910;ABBA01014911;ABBA01014912;ABBA01014913;ABBA01014914;AC007277;AC012594;AC068280;AC093402;AC114794;AF369908;AF391554;AF391555;AF391556;AF391557;AF391558;AK055778;AMYH01011255;AMYH01011256;AMYH01011257;BC040019;BC136620;BC144307;BX647895;CH471058;NM_001083615;NM_138995;NR_045682;NR_045683;NR_045684 AAI36621;AAI44308;AAL57233;AAO13799;AAO13800;AAO13801;AAO13802;AAO13803;AAY14892;AAY24159;AAY24324;BAB71011;EAX11243;EAX11244;EAX11245;EAX11246;NP_001077084;NP_620482;Q8WXR4 Hs.671900 1339631;1340666;1645565;1659138;1707602;1718037;1721781;1725101;1767137;1783918;1854335;5015861;5020242;5037552;7185938;7186753 A109YC1;CHLC.GAAT1A10;D10S16;D11S2612;D2S1434;D2S2284;D2S376;D8S2279;G59761;RH118848;RH122635;SHGC-106971;SHGC-14361;SHGC-84613 OTTHUMP00000204841;OTTHUMP00000204842;OTTHUMP00000204843;OTTHUMP00000204844;OTTHUMP00000204848;OTTHUMP00000237453;myosin-IIIb protein-coding ENSG00000071909 15576 17623 610040 VALIDATED 1314390 MYO1G myosin IG MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010] 7 7 7 p13-p11.2 45101009 45117450 - 44968786 44985193 - 45002260 45018704 - 6480464 16344560;15489334;14702039;12853948;12690205;12477932;11544309;7539551;19041431;20071333;20353833;20653428;20509834;22939629;21890473;21906983;19968988;21252943;22505724 64005 B0I1T2;F8WAS7;F8WEW9 AA651942;AACC02000110;AB290179;ABBA01058244;AC004847;AF380932;AF380933;AK074050;AK074135;AK097912;AK131089;AL832302;AMYH01017219;BC007370;BC015693;BC041623;BC063854;BC113544;BC117241;BI910371;CH236960;CH471128;DB131347;NM_033054 AAH15693;AAI13545;AAI17242;AAK58092;AAK58093;B0I1T2;BAB84876;BAB84961;BAC85139;BAG06733;BAG53548;EAL23748;EAW61068;EAW61069;EAW61070;EAW61071;EAW61072;NP_149043 Hs.37617 5017541 MYO1G HA2;MGC142104;MHAG OTTHUMP00000208732;minor histocompatibility antigen HA-2;myosin-Ig;unconventional myosin-Ig APPROVED protein-coding ENSG00000136286 13880 17622 613445 VALIDATED 736652 MYO5B myosin VB The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009] 18 18 q21 45603099 45975382 - 47349156 47721451 - 1580863;2312655;2312656;6480464;7240710 17156409;18431594 19008234;19006234;18724368;18317468;17462998;16344560;16214890;14702039;12477932;11495908;11408590;10574461;8884266;8022818;7757816;2236059;12393859;15004234;12421765;22134786;15527767;16713569;19610025;20379614;20186687;21282656;21199752;19542231;21206382;21988832;22441677;22420646 4645 K7EIJ6;Q0P656;Q7Z7A5;Q9H6Y6;Q9ULV0 AB032945;AB290160;ABBA01018665;ABBA01018666;ABBA01018667;ABBA01018668;ABBA01018669;AC090227;AC091044;AC092705;AC105224;AK025336;AK093149;AK301976;AL133643;AMYH01008993;AMYH01008994;AY274809;BC032511;BC033527;BX641287;DA350416;L29143;NG_012925;NM_001080467;Z38208 AAA20906;AAH33527;AAP42074;BAA86433;BAB15114;BAG06714;BAG52664;BAG63387;NP_001073936;Q9ULV0 Hs.720076 1336700;1341101;1341929;1706862;1722975;1726369;1726759;1739863;1762673;1763133;1787488;1855658;2164742;2219960;7186279 D18S1018;D18S1061;D18S1126;D18S470;D18S473;G60586;G62485;G62767;MYO5B__6197;RH17962;SHGC-146466;SHGC-146864;SHGC-155407;SHGC-80914 KIAA1119 MYO5B variant protein;myosin 5b;myosin-Vb;unconventional myosin-Vb APPROVED protein-coding ENSG00000167306 7603 251850;606540 REVIEWED 1320640 MYO5C myosin VC 15 15 15 q21 29378960 29483015 - 50271811 50375262 - 52484515 52587995 - 1580863;6480464 19641326;19741097;20379614;19008234;18201966;18079121;12477932;11870218;8022818;17314511;21890473;21906983;19322201 55930 E9PE01;H0YM93;H0YM96;H0YMK3;Q6P1W8;Q9NQX4 ABBA01039064;ABBA01039065;AC010674;AF161352;AF272390;AK131493;AK301079;AK304136;AMYH01006650;AMYH01006651;BC064841;BC144611;CH471082;L29144;NM_018728 AAA20907;AAF28912;AAF78783;AAH64841;AAI67830;BAG62684;BAG65030;EAW77446;NP_061198;Q9NQX4 Hs.487036 1656416;1694996;1706264;1753377;1770358;1773033;2127080;2161960;5022649 A003P09;A008V02;D11S2875;G44711;RH45438;SHGC-107190;SHGC-57435;SHGC-80681;STS-AA004803 MGC74969 myosin 5C;myosin-Vc;unconventional myosin-Vc protein-coding ENSG00000128833 7604 11380 610022 VALIDATED 732206 MYO7A myosin VIIA This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 q13.5 76516964 76603932 + 76839310 76926286 + 1581470;1580863;737744;4892285;6480464;7240710 15965244;12485990;9680294 15300860;12466270;8622919;7870171;16001398;8842737;19320733;19299023;19074810;18700726;18484607;18463160;18323324;18181211;17960123;17361009;17093394;16679490;16470552;16449806;16400615;15976448;15823922;15660226;15606003;15221449;15180257;15121790;12588794;12477932;12221080;12112664;11964381;11921171;11171103;11162241;11080149;10930322;10889203;10364543;10094549;9843659;9718356;9382091;9354784;9171833;9171832;9070921;9002678;8900236;8884267;8884266;8776602;8599365;8022818;7951250;7568224;1478677;11398101;15590698;19324852;19375528;19683999;19948975;20201926;20132242;20801516;16226712;20301442;21031134;21150918;21482763;20844544;21378158;17702415;21687988;22219650;21873662;23383098;21901789;22745667;20301607;22505724;22690115 4647 B9A011;B9A012;H7C4D8;Q13402 AB209629;AB290181;ABBA01017438;ABBA01017439;AMYH01003823;AP000752;AP001855;BC023212;BC030215;BC144519;BG108466;CH471076;L29146;NG_009086;NM_000260;NM_001127179;NM_001127180;U34227;U39226;U55208;U55209 AAA20909;AAB03679;AAC50218;AAC50722;AAC50927;AAI72349;BAD92866;BAG06735;EAW75018;EAW75019;EAW75020;EAW75021;EAW75022;EAW75023;NP_000251;NP_001120651;NP_001120652;Q13402 Hs.370421 1683892;1685239;1703774;1733766;1761581;1762815;2140105;2190927;2219964;5117576;5122253 D11S2103;GDB:581521;MARC_11617-11618:1002744065:3;MYO7A__6199;RH66537;RH79024;RH80322;RH80831;SHGC-145582;SHGC-146593;SHGC-83220 DFNA11;DFNB2;MYOVIIA;MYU7A;NSRD2;USH1B OTTHUMP00000202523;OTTHUMP00000202524;OTTHUMP00000202525;OTTHUMP00000228841;deafness, autosomal dominant 11;deafness, autosomal recessive 2;myosin VIIA (Usher syndrome 1B (autosomal recessive, severe));myosin-VIIa;unconventional myosin-VIIa APPROVED protein-coding ENSG00000137474 7606 02043 276900;276903;600060;601317 REVIEWED 1352567 MYO7B myosin VIIB 2 2 2 q21.1 121604332 121706245 + 128009848 128111773 + 128293378 128395303 + 6480464 8884266;8022818;14702039;12477932;19724895;19851296;20198315;20237496;11181995;22505724 4648 B9A063;C9J6C0;C9JC21;H3BSD9;Q6PIF6 AB290182;ABBA01040201;ABBA01040202;ABBA01040203;AC010976;AK000145;AK023543;AK074183;AMYH01011019;BC035615;BC051761;CH471103;CR627350;L29147;NM_001080527 AAA20910;AAH35615;AAI72225;BAB85009;BAG06736;CAI45981;EAW95322;EAW95323;NP_001073996;Q6PIF6 Hs.154578;Hs.677195 5015404;5015861;5022383;5022578;5024035;7185938 D10S16;D13S116;D1S1423;ECD04345;L17705 DKFZp686A08248 MYO7B variant protein;OTTHUMP00000203859;myosin-VIIb;unconventional myosin-VIIb protein-coding ENSG00000169994 7607 606541 PROVISIONAL 732261 MYO9A myosin IXA This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011] 15 15 15 q22-q23 49004720 49296754 - 69905405 70197476 - 72118351 72410440 - 1580863;6480464 8022818;15644318;16344560;16204458;14702039;12477932;10409426;16169070;16712791;20936779;17314511;19156129;22305756;20881960;23319000 4649 H3BMM1;H3BMS3;H3BP49;H3BRD5;H3BSU8;H3BTL9;H3BU05;H3BV44;Q9H8T5 AB209841;AB290183;ABBA01038737;ABBA01038738;ABBA01038739;ABBA01038740;AC020779;AC022872;AC090454;AC104938;AF117888;AJ001714;AK001923;AK023306;AL137287;AMYH01006755;AMYH01006756;AMYH01006757;AMYH01006758;AMYH01006759;BC060886;BC140869;BC144683;BC150294;CB140040;CH471082;DB085692;DB100556;DQ088983;DQ088984;L29148;NM_006901 AAA20911;AAD49195;AAH60886;AAI40870;AAZ85978;AAZ85979;B2RTY4;BAA91979;BAB14517;BAD93078;BAG06737;CAA04947;CAB70679;EAW77879;EAW77880;NP_008832 Hs.546268;Hs.733087 1335689;1341452;1653500;1673581;1684154;1725511;1729942;1789024;1847385;1853311;2108281;2121197;2136725;2138070;2140339;2145956;2168103;2183818;2185464;5022651;5092752;5096513;7186739 A005Y05;D11S2921;D15S110;D15S1267;D15S1290;D15S1331;D15S197;D15S204;D17S713;G32306;G65645;MYO9A_8489;RH119152;RH65452;RH68081;RH79619;SGC31120;SHGC-31014;SHGC-58165;STS-H02614;STS-T57042;WI-17911 FLJ11061;FLJ13244;MGC71859 MYO9A variant protein;OTTHUMP00000164639;myosin-IXa;unconventional myosin-9a;unconventional myosin-IXa APPROVED protein-coding ENSG00000066933 7608 05341 604875 REVIEWED 1352294 MYO6 myosin VI This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive hearing loss. [provided by RefSeq, Jul 2008] 6 6 q13 76515629 76685974 + 76458909 76629254 + 1600556;1580863;2314958;2314956;2314963;6480464;6484113;7240710 11468689;15146066;18543251;16107581 9852149;12857860;10519557;16507995;15247260;16949370;15837803;11447109;16948370;9259267;18429820;18348273;18212818;18029400;17683200;17635994;17187061;17071605;16908842;16499958;16344560;15123708;15060111;15044955;14702039;14574404;12893809;12687499;12477932;12050163;11967127;11906161;11728438;11707568;11517222;9205841;8022818;7929586;7493015;16169070;17353931;10198040;15231748;18311135;19615732;19855435;20201926;20379614;20936779;19893302;20850010;19913121;20576604;20628086;20353999;21278381;20604900;23023224;21735821;21148290;16335966;22992744;16196087;22266860;22321127;21987572;20972266;21139048;21890473;21906983;21963094;22053931;22323290;23000965;22171985;20301607;20473970;20161783;23398456;21182205;22884421 4646 E7EW20;Q5JVM0;Q9UM54 AB002387;ABBA01040364;ABBA01040365;ABBA01040366;ABBA01040367;ABBA01040368;ABBA01040369;AF229111;AK095294;AL109897;AL136093;AL392166;AMYH01016440;BC012598;BC146764;BX647397;CH471051;DB088907;L29145;NG_009934;NM_004999;U90236 AAA20908;AAC51654;AAI46765;AAK00229;BAA20843;EAW48728;EAW48729;EAW48730;EAW48731;NP_004990;Q9UM54 Hs.149387 1661619;1666476;1671328;1680976;1689706;1725677;1771342;2124130;2180750;2219962;5037552 D6S1172E;D6S1986;D8S2279;G35301;G62106;MYO6__6198;RH48988;RH76105;STS-AA025570;STS-AA030004;STS-N39073 DFNA22;DFNB37;KIAA0389 OTTHUMP00000016759;OTTHUMP00000016760;OTTHUMP00000016761;myosin-VI;unconventional myosin-6;unconventional myosin-VI APPROVED protein-coding ENSG00000196586 7605 02985 600970;606346;607821 REVIEWED 1344327 MYOCD myocardin This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 p11.2 12510231 12607686 + 12569207 12670651 + 1580863;6480464;6484113 16054032;17215356;19276386;19098903;18852265;18772130;18451334;18028454;17938287;17579192;17360478;17292825;16625196;16344560;16151017;15907818;15014501;14970199;14702039;12756293;12640126;12397177;11439182;20560679;12477932;16141410;16818234;19342595;19776005;16224064;21051663;19801679;19883264;19952936;20068148;19797053;20458751;20385216;21506120;17940050;17991879;20848417;22843699;22937150;19156129;21984848;19237536;20379614;22675492;22075245;17620599 93649 J3KSX3;Q6N065;Q8IZQ8 ABBA01055006;ABBA01055007;ABBA01055008;AC005358;AF532596;AK095846;AK096753;AK097821;AK128608;AK292885;AMYH01008118;AMYH01008119;AMYH01008120;AY764180;BC126307;BC143391;BX640673;CH471108;DB226467;NG_012972;NM_001146312;NM_001146313;NM_153604 AAI26308;AAI43392;AAN33040;AAV33439;BAC05177;BAF85574;CAE45805;EAW89970;EAW89971;NP_001139784;NP_001139785;NP_705832;Q8IZQ8 Hs.567641 MYCD OTTHUMP00000064674;OTTHUMP00000064675;OTTHUMP00000064676;myocardin APPROVED protein-coding ENSG00000141052 16067 09362 606127 REVIEWED 736717 MYO9B myosin IXB This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 19 19 p13.1 17073528 17185104 + 17186591 17324104 + 1580863;6480464;7240710 16338935;9490638;15644318;16616011;11901422;8907710;19142207;18804983;18361936;18077767;17967566;17948900;17944996;17767555;17667713;17584584;17267307;17176439;17087940;17081983;16948647;16943798;16720215;16423886;16282976;15790807;15146197;14702039;14517787;12477932;11801597;10737800;9226381;8022818;16169070;19235913;19911011;20096742;20303373;16417406;21515326;21688385;21900206;17314511;12938929;21139048;22954106;20881960;22952844;22573889 4650 B0I1T6;M0QXP0;M0QXX1;M0QZY4;M0R0P8;M0R240;M0R2J3;M0R300;M0R332;Q13459;Q4LE74;Q8WVD2 AB209997;AB290184;ABBA01051179;ABBA01051180;ABBA01051181;ABBA01051182;ABBA01051183;ABBA01051184;ABBA01051185;ABBA01051186;AC020908;AC020913;AC092476;AF020267;AF143684;AK002201;AMYH01009570;AY927576;BC018108;BC061639;BC094864;BF905466;BI001923;BI827217;CH471106;CN284963;DR006748;L29149;NG_013068;NM_001130065;NM_004145 AAA20912;AAC26597;AAF00119;AAH18108;BAA92132;BAE06079;BAG06734;EAW84572;EAW84573;NP_001123537;NP_004136;Q13459 Hs.123198 1335763;1341868;1672168;1680258;1687876;2108283 D19S593;D19S899;MYO9B_8490;RH65322;RH77938;WI-11661 CELIAC4;MYR5 myosin-IXb;unconventional myosin IXb;unconventional myosin from rat 3;unconventional myosin-9b;unconventional myosin-IXb APPROVED protein-coding ENSG00000099331 7609 03677 602129;609753 REVIEWED 1353183 MYOD1 myogenic differentiation 1 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008] 11 11 p15.4 17697686 17700254 + 17741110 17743678 + 1580863;6480464 1846704;3175662;19453261;19299559;18676376;18599480;18078839;17693064;17378682;17014844;16858404;16841087;16614355;16435141;16099183;16007194;15251938;15231748;15163661;14767572;12947115;12887892;12716875;12657651;12477932;12397066;12196028;12105204;11784080;11756408;11711431;11684023;11532390;11463815;11285237;11279181;11025438;10944526;10924525;10764802;10757985;10619020;10601020;10583555;10471746;10406466;10082523;10022835;9862959;9826778;9774340;9710583;9692544;9659901;9546368;9482738;9418854;9407021;9343420;9242638;9238849;9235903;9234731;9184158;9001254;9001211;8999959;8922385;8759016;8617811;8576241;8548800;8381715;8380166;2583111;2550138;2315312;2253873;2176177;1850513;1849142;1649701;1406681;1335366;1320026;1310896;18674781;15029197;12145280;9528857;11371506;8797820;15674337;8621548;17487425;17940050;17964260;20364308;21321994;10915743;15173318;19733896;20139084;20195544;19188441;17011493;18765668;19553684;19723804;20333749;20966410;15923648;20716948;12665587;14660660;15520282;15743821;15870273;20980337;21326383;23230269;9050988;22591756;20124407;21440539;21732495;22153073;22621191;22613845;22068056;22277673;21936881;21832073;21859860;21988832;23226416;23383201;10672515;9372912 4654 P15172 ABBA01061062;AC124301;AF027148;AI300241;AK314968;AMYH01003416;BC064493;BF205042;BF304059;BT007157;CH471064;NM_002478;X17650;X56677 AAC29001;AAH64493;AAP35821;BAG37469;CAA35640;CAA40000;EAW68427;NP_002469;P15172 Hs.181768 1797894;5120163;5127655 GDB:197900;MYOD1;MYOD1_2535 MYF3;MYOD;PUM;bHLHc1 OTTHUMP00000232717;class C basic helix-loop-helix protein 1;myf-3;myoblast determination protein 1;myogenic factor 3 APPROVED protein-coding ENSG00000129152 7611 01166 159970 REVIEWED 737429 MYOC myocilin, trabecular meshwork inducible glucocorticoid response MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008] 1 1 q23-q24 169871180 169888396 - 171604557 171621773 - 1600838;1600840;1600842;1580863;6480464;7240710 10196380;9005853;11595024 12447164;12442283;12411077;12362081;12356829;12215093;12190780;12126543;12060848;12019210;11992263;11923248;11910561;11853639;11807810;11774072;11773029;11773026;11738824;11527946;11133859;10990486;10819638;10644174;12470758;10330365;18952665;18852424;18841557;18776955;18728751;18591929;18537981;18449353;18436825;18427622;18385784;18334962;18303389;18214788;18195223;17984096;17966125;17960117;17893668;17893664;17679945;17663725;17650508;17615537;17605937;17563717;17562996;17516541;17499207;17438518;17417611;17417609;19023451;17321191;17304254;17224759;9169133;17317787;19407846;19390644;19287508;19260140;19234343;19188438;19180258;19148291;19145250;19096718;17197538;17122126;16902400;16710414;16688110;16681888;16636654;16458712;16431959;16401791;16392033;16374045;16358725;16316624;16289162;16280977;16226543;16198165;16148883;15953455;15944158;15851979;15823921;15795224;17210859;15733270;15723004;15652337;15646469;15534471;15489334;15483649;15354075;15342693;15338275;15255110;15194423;15161538;15137056;15025728;14767915;14740993;14702039;14688426;14680806;12912696;12872267;12868033;12860809;12851728;12817590;12789574;12782842;12697062;12671463;12671462;12615070;12522550;12504739;12477932;9863594;9792882;9697688;9548973;9535666;9521427;9497363;9490287;9446806;9361308;9345106;9328473;9280311;8749308;8513321;8279471;22197377;20664688;20806035;19662433;19668597;19688280;19784393;20021252;20107173;20198978;20447966;20801516;21031026;20668460;21168818;21203411;21174523;22550394;22876119;22879734;22933836;23028769;23035116;23129764;21677793;23453510;21552496;21655360;21850185;21426841;21656515;23304066;22194650;22247475;17867509;22615763;22463803;22809227;23218701;22942166;22736945;23566828;23029558 4653 Q8N854;Q99972 AB006688;ABBA01027926;AF001620;AF049793;AK097310;AK300924;AK300943;AK301297;AK315443;AMYH01001496;AY599652;BC029261;CH471067;D88214;FJ227302;FJ237046;FJ237047;NG_008859;NM_000261;U85257;Z97171;Z97174;Z98750 AAC14264;AAC51725;AAC52051;AAH29261;AAT09137;ABM83341;ABM86555;ACI42983;ACI62292;ACI62293;BAA23531;BAA24532;BAC04997;BAG37831;BAG62556;BAG62572;BAG62854;CAB09899;EAW90903;NP_000252;Q99972 Hs.436037 1692818;1692826;1693160;1792664;1793960;1793962;1793964;2108285;2112002;2123577 AL034307;D1S3666;G42275;G42280;MYOC_8491;PMC156599P1;PMC310708P1;PMC310708P2;PMC310708P3;SHGC-75918 GLC1A;GPOA;JOAG;JOAG1;TIGR;myocilin OTTHUMP00000032681;mutated trabecular meshwork-induced glucocorticoid response protein;myocilin APPROVED protein-coding ENSG00000034971 7610 03387 137750;601652 REVIEWED 1346217 MYOM1 myomesin 1 The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 18 18 p11.31 3056805 3210106 - 3066805 3220106 - 1580863;6480464 7505783;6537951;15890201;12972258;12878677;12477932;10744711;10036188;9806852;7588733;15571722;21256114;20379614;21069531;21794030;22347812 8736 A8MX12;J3KRK2;P52179 ABBA01049843;ABBA01049844;ABBA01049845;ABBA01049846;ABBA01049847;ABBA01049848;ABBA01049849;AF185573;AI221348;AJ621424;AK125322;AK302444;AMYH01008777;AMYH01008778;AP005329;AP005431;BC116183;BC116184;CH471113;NG_032120;NM_003803;NM_019856;X69090 AAF63190;AAI16184;BAC86128;BAG63741;CAA48833;CAF18565;EAX01683;EAX01684;NP_003794;NP_062830;P52179 Hs.464469 1731719;2108289;2162789;2172204;5109561;5114534 D18S1029;D18S1370;D18S502;D18S901E;MYOM1_8851;WI-19689 MGC134946;MGC134947;SKELEMIN 190 kDa connectin-associated protein;190 kDa titin-associated protein;EH-myomesin;myomesin (M-protein) 1 (190kD);myomesin 1 (skelemin) (185kD);myomesin 1, 185kDa;myomesin family member 1;myomesin-1 APPROVED protein-coding ENSG00000101605 7613 04618 603508 REVIEWED 736712 MYOG myogenin (myogenic factor 4) Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008] 1 1 q31-q41 201318880 201322000 - 203052257 203055166 - 1580863;6480464 1850513;10329008;19470832;19453261;19372547;19095803;18708938;18676376;17531403;17468105;17378694;17378682;16614355;16608842;16453911;15489334;15322112;15084602;14997318;12716875;12477932;12207009;10757985;10471746;10082523;9242638;9234731;8797820;8617811;2583111;2163343;1962752;1846704;1659574;1649701;1329097;1325437;8548800;15674337;20213728;9418854;19188441;19783823;15923648;16424906;19961777;21672341;21988832;23226416;23364797 4656 P15173;Q9HCA4 ABBA01027486;AC105940;AF050501;AMYH01001654;AW469592;BC053899;BF204429;BT007233;CH471067;CS018101;CS025616;HI988279;HI988299;NM_002479;X17651;X62155 AAG22573;AAH53899;AAP35897;ACE86629;ACE87311;CAA35641;CAA44080;CAI58665;CAI61685;CBY88748;CBY88752;EAW91463;EAW91464;NP_002470;P15173 Hs.2830 1854449;2108287;2116436;2173642 G15880;MYOG_8492;SHGC-11939;STS-X17651 MYF4;MYOGENIN;bHLHc3;myf-4 Myogenic factor-4; myogenin;OTTHUMP00000039094;class C basic helix-loop-helix protein 3;myf-4;myogenic factor 4;myogenin APPROVED protein-coding ENSG00000122180 7612 01167 159980 VALIDATED 1343651 MYOM2 myomesin 2 The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008] 8 8 8 p23.3 1935877 2035353 + 1980565 2080787 + 1993158 2093380 + 1580863;6480464 7505783;18029348;16344560;15342556;12972258;12477932;9933576;9529381;8889548;20889312;20811636 9172 E7EWH9;P54296 ABBA01016751;ABBA01016752;AC125453;AJ708170;AK297890;AL596730;AMYH01018282;BC052969;BM720057;BP258208;BP260324;CH471181;DA900083;NM_003970;X69089 AAH52969;BAG60211;CAA48832;EAW51488;EAW51489;EAW51490;EAW51491;NP_003961;P54296 Hs.443683 2108291;2127387;2174684 MYOM2_8909;SHGC-11993;WI-19139 TTNAP 165 kDa connectin-associated protein;165 kDa titin-associated protein;M-band protein;M-protein;OTTHUMP00000159458;OTTHUMP00000224483;myomesin (M-protein) 2, 165kDa;myomesin family member 2;myomesin-2;titin-associated protein, 165 kD APPROVED protein-coding ENSG00000036448 7614 04619 603509 VALIDATED 1350442 MYP1 myopia 1 (X-linked, Bornholm eye disease included) 7240710 4657 7615 1354266 MYP2 myopia 2 (high grade, autosomal dominant) 7240710 9634508 4658 1335914;1338884;1339646;1340039;7186286 D18S1138;D18S481;D18S52;D18S59;D18S63 7616 1320744 MYOM3 myomesin 3 1 1 1 p36.11 22712351 22768155 - 24255118 24311252 - 24382531 24438665 - 6480464 18177667;17975119;14702039;12477932;19023099;23092984 127294 A6NI63;A6NIU4;Q8NA11 ABBA01059898;AF086254;AK093280;AK125972;AK128233;AL591178;AMYH01000369;BC014671;BC067101;BX537911;BX647453;BX647455;BX647644;CH471134;NM_152372 AAH14671;AAH67101;BAC04119;BAC86370;BAC87343;CAD97895;CAH10376;CAH10377;EAW95108;EAW95109;EAW95110;NP_689585;Q5VTT5 Hs.523413 1654626;1744641;1744651;1757311;1762175;1849788 AL009599;GDB:549149;GDB:549165;SHGC-144714;SHGC-146061;SHGC-74401 FLJ35961;MGC71483;RP11-293P20.1 OTTHUMP00000003013;myomesin family, member 3;myomesin-3 APPROVED protein-coding ENSG00000142661 26679 08200 VALIDATED 1344162 MYP3 myopia 3 (high grade, autosomal dominant) 7240710 9792869 8782 1337714;1338256 D12S1706;D12S327 7617 1343142 MYOF myoferlin Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] 10 10 q24 95056176 95232029 - 95066186 95242074 - 1580863;6480464;6484113 10607832;18502764;18495154;17702744;17081983;15489334;15302935;15164054;14702039;12477932;12168954;11790298;10995573;10574462;21319273;19913121;20628086;11959863;16385451;18029348;19228595;19494235;20379614;21674799;22939629;22761893;18781797;19596686;21987572;22135466;21139048;21890473;21906983;16009940;22808170 26509 C9JCN0;F8W8J4;H0YD14;Q9HBU3 AB033033;ABBA01021868;ABBA01021869;ABBA01021870;ABBA01021871;ABBA01021872;ABBA01021873;ABBA01021874;ABBA01021875;AF182316;AF207990;AK075258;AK093890;AL096713;AL360229;AL365364;AMYH01002957;AMYH01002958;AMYH01002959;BC014612;BC033616;BC040110;BC052617;CH471066;HH962133;NM_013451;NM_133337 AAF27176;AAG23737;AAH40110;AAH52617;BAA86521;BAG52097;BAG52779;CAB46370;CBX51418;EAW50073;EAW50074;EAW50075;EAW50076;NP_038479;NP_579899;Q9NZM1 Hs.602086 1342260;1763435;1764511;1782138;2134791;2168083;2187590;7185388;7185431 D10S185;D10S2363;SHGC-14548;SHGC-147145;SHGC-148111;SHGC-155375;STS-Z40200 FER1L3;FLJ36571;FLJ90777 OTTHUMP00000020111;OTTHUMP00000020112;fer-1-like 3, myoferlin;fer-1-like protein 3;myoferlin APPROVED protein-coding ENSG00000138119 3656 06857 604603 REVIEWED 1351397 MYOZ1 myozenin 1 The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012] 10 10 10 q22.1 68677011 68687110 - 75061418 75071521 - 75391370 75401515 - 6480464 10984498;10427098;11114196;11171996;11842093;16076904;17434779;17254821;16189514;15489334;12477932;21145461;20149877;19472918;21832049;18029348;21139048;8889549;19616115 58529 Q9NP98 AA176752;ABBA01020316;AC073389;AF240633;AF243390;AJ278124;AK300683;AK308200;AL359210;AMYH01002828;AY013297;BC025753;CH471083;NG_032583;NM_021245 AAG24509;AAG27296;AAG38940;AAH25753;ABM82475;ABM85663;BAG62366;CAB92967;CAB94568;EAW54506;NP_067068;Q9NP98 Hs.238756 1658754;1716923;2108293 MYOZ1_8078;RH121836;RH41784 CS-2;FATZ;MYOZ OTTHUMP00000019817;calsarcin-2;filamin-, actinin- and telethonin-binding protein;myozenin-1 APPROVED protein-coding ENSG00000177791 13752 05725 605603 REVIEWED 1321551 MYOT myotilin This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008] 5 5 q31 137231473 137251440 + 137203545 137223540 + 1599673;6480464;7240710 10958653 12809483;16076904;10369880;19458539;19151983;19047374;19027924;17698502;16801328;16793270;16674563;16380616;16344560;16122733;15489334;15111675;12499399;12477932;12428213;11038172;10486214;9828127;1676560;1598902;15967462;19913121;20628086;19418025;21832049;21361873;21988832;20301582;20301672 9499 B4DT68;Q9UBF9 ABBA01068702;AC106791;AF133820;AF144477;AK300076;AK300088;AK307620;AK312733;AMYH01015638;AMYH01015639;BC005376;CH471062;DA896167;NG_008894;NM_001135940;NM_006790 AAD29051;AAD44754;AAH05376;ABW03808;ACT64576;ACT64577;BAG35604;BAG61880;BAG61891;EAW62177;EAW62178;NP_001129412;NP_006781;Q9UBF9 Hs.84665 1643852;1684906;1699148;1735430;1735450;1768890;2106735;2185610 D5S1563E;D5S1579E;RH103150;RH47863;RH67872;RH92475;SGC34636;TTID_3933 LGMD1;LGMD1A;MFM3;TTID;TTOD 57 kDa cytoskeletal protein;OTTHUMP00000159430;OTTHUMP00000223460;OTTHUMP00000223461;myofibrillar titin-like Ig domains protein;myotilin;titin immunoglobulin domain protein (myotilin) APPROVED protein-coding ENSG00000120729 12399 04981 159000;182920;604103;609200 REVIEWED 1349284 MYSA myasthenic (Lambert-Eaton) syndrome antigen A 8494331 4655 7620 1606912 MYPOP Myb-related transcription factor, partner of profilin 19 19 19 q13.32 43198306 43210886 - 51085121 51097702 - 46393281 46405862 - 6480464 15615774;12477932 339344 Q86VE0 ABBA01040957;AC008623;AMYH01009856;BC044311;NM_001012643 AAH44311;NP_001012661;Q86VE0 Hs.515478 2164712 A007C31 P42pop myb-related protein p42POP;myb-related transcription factor, partner of profilin;p42 Myb-related transcription factor, partner of profilin;partner of profilin protein-coding ENSG00000176182 20178 17352 PROVISIONAL 1316992 MYOZ2 myozenin 2 The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011] 4 4 q26-q27 120276469 120328385 + 120056939 120108944 + 6480464 10427098;11114196;11842093;16076904;18591919;17434779;17347475;16189514;15489334;15342556;12477932;11171996;11161785;9110174;8619474;19447967;19472918;20332099;14993199;16949557;19047374;21988832;15582318;22987565 51778 Q9NPC6 ABBA01044703;AC092656;AC107048;AC108164;AF007160;AF249873;AF267997;AJ252149;AK313856;AMYH01014484;AY013295;BC005195;BC017402;BC020932;BM091578;BP370492;BT007214;CH471229;NG_029747;NM_016599 AAC19160;AAF63623;AAG13932;AAG38938;AAH05195;AAH17402;AAH20932;AAP35878;BAG36584;CAB92965;EAW73662;NP_057683;Q9NPC6 Hs.732122 1643957;1653438;1705220;2109541 MYOZ2_9762;SHGC-24072;SHGC-78080;SHGC-8552 C4orf5;CMH16;CS-1 FATZ related protein 2;FATZ-related protein 2;OTTHUMP00000163920;calcineurin-binding protein calsarcin-1;calsarcin-1;muscle-specific protein;myozenin-2 APPROVED protein-coding ENSG00000172399 1330 05724 605602;613838 REVIEWED 1318422 MYOZ3 myozenin 3 The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012] 5 5 5 q33.1 146121747 146140269 + 150020637 150039118 + 150040403 150058930 + 1580863;6480464 10427098;11842093;16344560;15489334;15342556;12477932;19472918;21900206 91977 E5RII7;H0YC50;Q8TDC0 AA969304;ABBA01026274;ABBA01026275;AC008453;AF052497;AF480443;AJ277961;AJ300586;AJ300587;AK313873;AMYH01015709;BC069380;BC069553;BC074870;BC074871;BP360917;CH471062;DB054183;DB069077;DB277496;NG_032584;NM_001122853;NM_133371 AAH69380;AAH69553;AAH74870;AAH74871;AAL79336;BAG36601;CAC81912;CAC83076;CAC83077;EAW61713;EAW61714;NP_001116325;NP_588612;Q8TDC0 Hs.91626 1643874;1667267;2151269 RH47246;WI-14004;WI-17444 CS-3;CS3;FRP3 FATZ related protein 3;FATZ-related protein 3;OTTHUMP00000160555;OTTHUMP00000224406;calsarcin 3;calsarcin-3;myozenin-3 APPROVED protein-coding ENSG00000164591 18565 17624 610735 REVIEWED 1318320 MYPN myopalladin Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 10 10 10 q21.3 63143861 63246302 + 69539256 69641780 + 69865874 69971774 + 6480464 20395239;18006477;16964243;16381901;15489336;15164054;14702039;14583192;12482578;12477932;11309420;11230166;11076863;20801532;16385451;20379614;22939629;18029348;20360068;16164966;18342394;19466753;22016770;22286171;20467438;21963094 84665 F5GWA6;Q86TC9 ABBA01019556;ABBA01019557;AC016395;AC024258;AF328296;AK027343;AL512429;AL832002;AL832379;AL834247;AMYH01002798;AMYH01002799;AMYH01002800;BC142609;BC144333;BC144334;BQ009261;BX647637;BX647640;BX648564;CH471083;DW443964;NG_032118;NM_001256267;NM_001256268;NM_032578;NR_045662;NR_045663 AAI42610;AAI67818;AAK50625;BAB55048;CAD38923;CAD89906;CAD91155;CAL37991;CAL38603;EAW54267;EAW54268;NP_001243196;NP_001243197;NP_115967;Q86TC9 Hs.55205 1644004;1700894;1721453;5020948 G35510;G59578;RH104074;RH48646 CMD1DD;CMH22;MYOP;RCM4 145 kDa sarcomeric protein;OTTHUMP00000019694;OTTHUMP00000019695;myopalladin;sarcomeric protein myopalladin, 145 kDa (MYOP) APPROVED protein-coding ENSG00000138347 23246 10536 608517;615248 REVIEWED 1349072 MYT2 myelin transcription factor 2 9790734;9373037;10818241;7735128 8827 O15150;Q16301 AF006822;S76853 AAB34231;AAB62700;O15150;Q16301 Hs.123048 protein-coding 7624 1315345 MYRF myelin regulatory factor 11 11 11 q12-q13.1 58855535 58891401 + 61279437 61312565 + 61520121 61555989 + 6480464 12477932;12384578;10828591;10231032;9615227;19596243;19913121;20628086;21139048;21906983;22956843;21829377 745 B4DHB2;O60428;Q9Y2G1 AB023171;ABBA01003205;ABBA01003206;AC004770;AF038536;AF086762;AK295013;AMYH01003683;AP002380;BC004938;BC020196;CH471076;NM_001127392;NM_013279 AAB92668;AAC23395;AAF28400;AAI52732;AAI56715;BAA76798;BAG58073;EAW73963;EAW73964;EAW73965;EAW73966;EAW73967;EAW73968;NP_001120864;NP_037411;Q9Y2G1 Hs.473109 1672512;1772561;2116196;2149852 D11S2300E;RH36061;RH48140;RH78968 C11orf9;KIAA0954;MGC10781;MRF;Ndt80;pqn-47 OTTHUMP00000238145;OTTHUMP00000238146;myelin gene regulatory factor;myelin regulatory factor APPROVED protein-coding ENSG00000124920 1181 12213 608329 VALIDATED 1351320 MYRIP myosin VIIA and Rab interacting protein 3 3 3 p22.1 39793218 40244467 + 39826307 40276816 + 39851303 40301812 + 1302768;1580863;6480464 11964381 19270261;18478159;17827149;15489334;14517322;12477932;12221080;12590134;12485990;21130836;20861866;17474147;17903308;20379614;22396429;21740491;20467438;23007406 25924 F8WFC5;Q32M42;Q8IUF5 AB083783;ABBA01024796;ABBA01024797;ABBA01024798;AC099331;AC099557;AC104163;AC104185;AC104188;AC110718;AC130439;AF396687;AK125334;AK126013;AK294714;AK310972;AK312412;AK316068;AL050090;AMYH01013100;BC092512;BC109311;BC109312;CH471055;NM_015460 AAH92512;AAI09312;AAI09313;AAM43954;BAC15555;BAG54185;BAG54276;BAH11857;BAH14439;CAB43262;EAW64595;EAW64596;NP_056275;Q8NFW9 Hs.594535 1677302;1709418;1711992;1716293;1717453;1725553;1754115;1760111;1763081;1775199;1779042;1850219;1855762;1858175;2117467;2142457;2148090;2154446;2166996 A002V02;A004V33;G16527;G16573;HSC05A092;RH118449;RH119175;RH121176;RH122230;RH80389;SHGC-107747;SHGC-132147;SHGC-13693;SHGC-146817;SHGC-30521;SHGC-81742;STS-F04062;WI-14688;WI-22530 DKFZp586F1018;FLJ44025;MGC130034;MGC130035;SLAC2-C;SLAC2C OTTHUMP00000162081;OTTHUMP00000209206;OTTHUMP00000209207;OTTHUMP00000209209;Slp homologue lacking C2 domains;exophilin-8;myosin-VIIa- and Rab-interacting protein;rab effector MyRIP;slp homolog lacking C2 domains c;synaptotagmin-like protein homologue lacking C2 domains-c;synaptotagmin-like protein lacking C2 domains C protein-coding ENSG00000170011 19156 14796 611790 VALIDATED 1312603 MYT1 myelin transcription factor 1 The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008] 20 20 q13.33 62266271 62344050 + 62795827 62873606 + 1580863;6480464 9001210;1280325;19204086;18950845;17330875;14962745;12524179;12477932;11780052;10470851;10048485;9373037;8530187;7519254;10504341;12738781;18029348;9268380;15935060 4661 F5H7M8;Q01538;Q6P6D5;Q7Z5W2 AB020642;ABBA01018569;ABBA01018570;ABBA01018571;AL121581;AMYH01012102;AMYH01012103;BC018917;BC053638;BC062313;CH471077;M96980;NM_004535 AAA59897;AAH53638;AAH62313;BAA74858;EAW75155;EAW75157;EAW75158;NP_004526;Q01538 Hs.279562 1650962;1784368;2132380;5112361 RH104288;RH10656;SHGC-144519;Z94630 C20orf36;MTF1;MYTI;PLPB1;ZC2HC4A OTTHUMP00000031644;myelin transcription factor 1;myelin transcription factor I;proteolipid protein binding protein;proteolipid protein-binding protein APPROVED protein-coding ENSG00000196132 7622 02659 600379 REVIEWED 1603259 MYRFL myelin regulatory factor-like 12 12 12 q15 69883000 70016232 + 68505565 68638771 + 70272787 70352504 + 18951430;15489334;14702039;12477932 196446 F5GYH9;F8VVR8;F8VY44;H0YHI9;Q96LU7 ABBA01026531;AC025263;AC078922;AK057785;AMYH01004574;BC101820;BC143553;CH471054;XM_001716650;XM_001718908;XM_003960520 AAI01821;AAI43554;BAB71571;EAW97243;Q96LU7;XP_001716702;XP_001718960;XP_003960569 Hs.253773 1335796;1338917;1715221;1733506;1751833;1752751;2142860 D12S1693;D12S1705;D12S8;RH119861;RH45527;SHGC-105776;SHGC-106548 C12orf15;C12orf28;FLJ25056;MGC126869;bcm1377 OTTHUMP00000241087;OTTHUMP00000241088;hypothetical protein LOC196446;myelin regulatory factor-like protein;uncharacterized protein C12orf28 APPROVED protein-coding ENSG00000166268 26316 08047 MODEL 1602839 MYSM1 Myb-like, SWIRM and MPN domains 1 1 1 1 p32.1 57409098 57449255 - 58898178 58938335 - 59120411 59165747 - 6480464 18669648;17707232;17428495;16710414;12477932;11572484;21310492;19471022;21139048;21693764;21890473;21906983;21963094;22505724 114803 Q5VVJ2 AB067502;ABBA01074658;ABBA01074659;AK126835;AK292919;AL035411;AL450024;AMYH01000656;AMYH01000657;BC037536;BX537912;BX648168;CR627323;CR749450;NM_001085487 AAI67849;BAB67808;BAF85608;BAG54377;CAD97896;CAH10370;CAH18287;NP_001078956;Q5VVJ2 Hs.477495 1674938;1695848;1753557;2154780 D1S2251;SHGC-107489;SHGC-78793;WI-14224 2A-DUB;2ADUB;DKFZp779J1554;DKFZp779J1721;KIAA1915;RP4-592A1.1 OTTHUMP00000011131;histone H2A deubiquitinase MYSM1;myb-like, SWIRM and MPN domain-containing protein 1 protein-coding ENSG00000162601 29401 612176 PROVISIONAL 5509958 MYZAP myocardial zonula adherens protein This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternate splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstreamstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M). [provided by RefSeq, Nov 2011] 15 q21.3 57884102 57977562 + 12477932;14702039;15233991;20093627;21992629;22160502;21347282 100820829 H0YCD3;H3BTD5;Q8NCF3 ABBA01038989;ABBA01038990;ABBA01038991;AC025271;AC090651;AK055535;AL833028;AL833142;AMYH01006677;AY207459;AY237639;BC101645;BC112148;FJ970029;NM_001018100;NM_152451 AAI01646;AAI12149;AAP41548;AAP75897;ADA68358;BAB70944;NP_001018110;NP_689664;P0CAP1 Hs.437256 1739225;2143745 D15S870;SHGC-56823 DKFZp313C2240;DKFZp666H158;FLJ30973;GCOM1;Gup;Gup1;Gup2;MGC126694;MGC138353;MYOZAP GRINL1A upstream protein;OTTHUMP00000163343;OTTHUMP00000163344;myocardial intercalated disc protein;myocardium-enriched Zo-associated protein;myocardium-enriched zonula adherens protein;myocardium-enriched zonula occludens-1-associated protein protein-coding ENSG00000137878;ENSG00000263155 43444 614071 REVIEWED 1605681 MZB1 marginal zone B and B1 cell-specific protein 5 5 q31.2 138751156 138753504 - 138723257 138725605 - 6480464 14702039;12792799;12477932;11350957;11042152;21688198;22613335;11972030;19805154;19805157;21093319;21900206;22573353;21906983;23434460 51237 D6RII0;H0Y9L3;Q8WU39 AA837360;ABBA01068638;AC135457;AF151024;AF338109;AK057549;AK292706;AMYH01015651;BC009931;BC021275;BU601458;GQ477350;NM_016459 AAF36110;AAH09931;AAH21275;AAK84085;ABM83553;ABW03504;ACY74343;BAF85395;BAG51934;NP_057543;Q8WU39 Hs.409563 5015861;7185938 D10S16 FLJ32987;MEDA-7;MGC29506;PACAP;pERp1 HSPC190;OTTHUMP00000223763;caspase-2 binding protein;marginal zone B- and B1-cell-specific protein;mesenteric estrogen-dependent adipose 7;mesenteric oestrogen-dependent adipose gene- 7;plasma cell-induced ER protein 1;plasma cell-induced resident ER protein;plasma cell-induced resident endoplasmic reticulum protein;proapoptotic caspase adapter protein;proapoptotic caspase adaptor protein APPROVED protein-coding ENSG00000170476 30125 17815 609447 VALIDATED 731726 MYT1L myelin transcription factor 1-like 2 2 2 p25.3 1839186 2380235 - 1771892 2314052 - 1792885 2335045 - 1580863;6480464 18940311;15489334;12477932;12168954;10470851;9373037;8889548;18839057;20379614;21048971;21441570;17043677;21990140;21923761;22157634;22547139 23040 H7BYU4;Q49A74;Q9UL68;R4GMY9 AB029029;AB073885;ABBA01012339;ABBA01012340;ABBA01013049;ABBA01013050;ABBA01013051;ABBA01013052;ABBA01013053;ABBA01013054;ABBA01013055;ABBA01013056;ABBA01013057;ABBA01013058;AC008276;AC009232;AC009471;AC011301;AC093390;AC106046;AF036943;AK299571;AK307797;AL133024;AMYH01010064;AMYH01010065;BC031690;BC042833;BC043230;BC071612;BC109113;BC137272;BC137273;BC150281;BF439754;BF530661;BM715930;NM_015025 AAF14051;AAH43230;AAH71612;AAI37273;AAI37274;AAI50282;BAA83058;BAG61510;NP_055840;Q9UL68 Hs.434418;Hs.669852 1341945;1673463;1687898;1704786;1711970;1755701;1762075;2132196;2132459;2134407;2135151;2140241;2141066;2174746;2219966;5014051;5015621;5022200;5037552;5109281;5112135;5493879;7186943 A004T13;A006X23;AFMB342WF1;CHLC.GATA82C07;D11S3732;D1S1425;D2S2004;D2S323;D8S2278;D8S2279;G31051;HSCZSD082;L18426;MYT1L__6203;Myt1l;RH118435;RH47408;SHGC-142539;SHGC-145986;SHGC-30098;SHGC-79860;a03504rbk NZF1;ZC2HC4B OTTHUMP00000199939;OTTHUMP00000225851;myT1-L;myelin transcription factor 1-like protein;neural zinc finger transcription factor 1 protein-coding ENSG00000186487 7623 14797 613084 VALIDATED 2300357 MZT1 mitotic spindle organizing protein 1 13 13 13 q22.1 54180988 54200426 - 72180496 72199826 - 73282495 73301938 - 6480464 12477932;20360068;20639865;22427335;21906983;22889921 440145 Q08AG7 ABBA01050335;AK025522;AL138695;AL356754;AMYH01005200;AMYH01005201;BC013405;BC047655;BC062361;BC080523;BC125183;NM_001071775 AAI25184;NP_001065243;Q08AG7 Hs.28465 1676800;1736328;2189857 32i18REV;D13S829E;RH98346 C13orf37;FLJ21869;MGC150539;MOZART1;RP11-11C5.2 OTTHUMP00000018497;mitotic-spindle organizing protein 1;mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1 APPROVED protein-coding ENSG00000204899 33830 613448 VALIDATED 1318132 MZF1 myeloid zinc finger 1 19 19 q13.4 63765096 63776754 - 59073284 59084942 - 1580863;6480464 10777584;1860835;19196427;18029348;17851584;17081983;16950398;16297876;15670815;15541732;15528990;15453830;12477932;10974541;1719120;18472161;20145042;22846578;22559731;22464443;22242952;15576338 7593 M0R1U5;M0R2C0;P28698 AB209481;ABBA01020758;ABBA01020759;AC016629;AC016630;AF055077;AF055078;AF161886;AK308893;AK310381;AMYH01010041;BC007777;BC053316;BQ446552;BU620994;CH471135;M58297;NM_001267033;NM_003422;NM_198055 AAA59898;AAD55809;AAD55810;AAF80465;AAF80466;AAH07777;AAH53316;BAD92718;EAW72614;EAW72615;EAW72616;EAW72617;EAW72618;NP_001253962;NP_003413;NP_932172;P28698 Hs.399810 1675850;1765923;1768652;1775094;2164061 RH36557;RH71384;RH79819;SHGC-149330;STS-U46465 MZF-1;MZF1B;ZNF42;ZSCAN6;Zfp98 myeloid zinc finger 1;zinc finger and SCAN domain-containing protein 6;zinc finger protein 42 (myeloid-specific retinoic acid-responsive) protein-coding ENSG00000099326 13108 01930 194550 VALIDATED 6902000 N4BP2L2-IT2 N4BPL2 intronic transcript 2 (non-protein coding) 13 q13.1 33078643 33083532 - 8812419 116828 ABBA01010143;AL353665;AMYH01005021;NR_026928;U50531 Hs.658751 CG030 miscrna 25038 VALIDATED 1603721 MZT2A mitotic spindle organizing protein 2A 2 2 2 q21.1 125967515 125974405 - 131958003 131966534 - 132241533 132250064 - 6480464 12477932;8889548;19913121;20628086;20360068;20098747;21832049;20861304;21135143 653784 H7C202;Q6P582 ABBA01028233;AC073869;AMYH01011102;BC018206;BC063024;BC104650;BI599271;BM554057;BU682101;NM_001085365 AAH18206;AAH63024;AAI04651;AAX93252;NP_001078834;Q6P582 Hs.655067 1684323;2156648;2162084 RH41853;RH98446;STS-AA010289 FAM128A;MOZART2A FLJ14346-like;OTTHUMP00000204187;family with sequence similarity 128, member A;mitotic-spindle organizing protein 2A;mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A APPROVED protein-coding ENSG00000173272 33187 613449 VALIDATED 1605033 MZT2B mitotic spindle organizing protein 2B 2 2 2 q21.1 124214286 124223087 + 130656173 130664770 + 130939501 130948300 + 6480464 14702039;12477932;20360068;17207965;19913121;20628086;21900206;21139048;21135143 80097 B8ZZ87;H7BZ50;H7C173;H7C293;Q6NZ67 ABBA01017944;ABBA01017945;ABBA01017946;AC018804;AK024408;AMYH01011051;BC014255;BC017694;BC066296;BG036944;BI546951;CH471263;NM_025029 AAH14255;AAH66296;AAY14884;ADQ32817;EAW55602;EAW55603;EAW55604;EAW55605;NP_079305;Q6NZ67 Hs.469925;Hs.516450 1684323;2162084;5015619;5022576;5022651;5023507;5037552 D11S2921;D11S3114;D1S1361;D8S2279;RH66232;RH98446;STS-AA010289 FAM128B;FLJ14346;MGC87017;MOZART2B OTTHUMP00000162393;OTTHUMP00000204374;family with sequence similarity 128, member B;mitotic-spindle organizing protein 2B;mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B APPROVED protein-coding ENSG00000152082 25886 07857 613450 VALIDATED 1604555 N4BP2L1 NEDD4 binding protein 2-like 1 13 13 13 q13.1 14041664 14069106 - 31872860 31900315 - 32974860 33002315 - 6480464 12477932;8812419;19692168;19773279 90634 H0Y2Y5;Q5TBK1;Q9UQP6;Q9Y273 ABBA01010137;ABBA01010138;AI783635;AL049785;AL049786;AL049787;AL049788;AL137247;AMYH01005021;BC022188;BC068049;BC125050;BI551105;BX648509;CH471075;NM_001079691;NM_052818;U50527;Z73359 AAH22188;AAI25051;AAI72323;CAB42443;CAB42444;CAB42445;CAB42446;CAC94789;EAX08502;EAX08503;EAX08504;EAX08505;EAX08506;EAX08507;EAX08508;NP_001073159;NP_438169;Q5TBK1 Hs.732118 1663952;1730930;1772304;1774937;1793036;1857346;2106989;2113450;2142031;2179575;2181015;5015961;5037552 A005D41;A006U40;CG018__4561;D13S1460;D13S1790;D13S211;D13S857E;D15S1477;D8S2279;PMC19144P1;RH45996;RH79196;SHGC-53626 CG018 NEDD4-binding protein 2-like 1;OTTHUMP00000018226;OTTHUMP00000018227;OTTHUMP00000018229;hypothetical gene CG018 protein-coding ENSG00000139597 25037 12384 VALIDATED 1605706 N4BP1 NEDD4 binding protein 1 16 16 16 q12.1 33082817 33154845 - 47130138 47201621 - 48572637 48644120 - 6480464 19074885;14702039;12477932;11717310;9734811;15231747;19285159;21145461;17114934;17592138;22863883;22491018;20233849;21903422;21139048;21890473;21906983;22505724 9683 I3L3R7;O75113 AB014515;ABBA01000907;ABBA01000908;ABBA01000909;AC023813;AC026470;AK001464;AK026937;AK056383;AK094234;AK124782;AL831882;AMYH01007649;BC051897;BC108288;BC152472;CH471092;NM_153029 AAI08289;AAI52473;AAI60019;BAA31590;BAG50916;EAW82729;NP_694574;O75113 Hs.511839 1663252;1677866;1679800;1685950;1686412;1693652;1737571;1797076;2111117;2117652;2126024;2181747;5127280 AU151351;D16S2664;D16S473E;RH65025;RH65099;RH66684;RH76414;RH93964;SHGC-58576;SHGC-60717;SHGC-60801;SHGC-61148;SHGC-61163 FLJ31821;KIAA0615;MGC176730 NEDD4-binding protein 1 protein-coding ENSG00000102921 29850 08109;14800 VALIDATED 1603992 N4BP2 NEDD4 binding protein 2 This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. [provided by RefSeq, Jul 2008] 4 4 4 p14 40497305 40595932 + 39775242 39833423 + 40058524 40159872 + 6480464 17081983;14702039;12477932;11717310;10718198;12730195;18487259;20308539;20936779;17626640;17761849;18804481;21139048;21890473;21906983;22072629;22505724 55728 D6R9J2;D6RC09;H0YA93;Q86UW6 AB037834;AB371584;ABBA01004156;ABBA01004157;ABBA01004158;ABBA01004159;AC095057;AC098591;AK001542;AMYH01014124;AMYH01014125;AMYH01014126;AY267013;BC126466;CH471069;NM_018177 AAI26467;AAP22172;BAA91748;BAA92651;BAG48313;EAW92957;EAW92958;EAW92959;NP_060647;Q86UW6 Hs.391463 1663570;1690101;1696976;1735398;5037552 D4S2571E;D8S2279;RH101960;RH92697;SHGC-59632 B3BP;FLJ10680;KIAA1413 BCL-3 binding protein;BCL-3-binding protein;NEDD4-binding protein 2;OTTHUMP00000158757;OTTHUMP00000218538 APPROVED protein-coding ENSG00000078177 29851 11382 REVIEWED 1603408 N4BP2L2 NEDD4 binding protein 2-like 2 13 13 13 q13.1 14073721 14179731 - 31904930 32010936 - 33006930 33112936 - 6480464 14702039;12477932;8895530;8812419;19506020;19615732;21906983;23088713;8889548 10443 B4DPY1;D6R968;Q92802;Q9Y3H6 ABBA01010138;ABBA01010139;ABBA01010140;ABBA01010141;ABBA01010142;ABBA01010143;ABBA01010144;ABBA01010145;AF530063;AK093514;AK123084;AK298546;AK310280;AK312924;AL049783;AL049802;AL137247;AL353665;AMYH01005021;BC010643;BC131631;BG435390;BG621272;BT007172;CB217966;CB240991;CH471075;HY045074;NM_001278432;NM_014887;NM_033111;U50529;U50532;Z36834;Z73359 AAC50875;AAH10643;AAI31632;AAP35836;AAQ09947;ABM92242;ABW03285;BAG60743;CAB42441;CAB42563;CAC94790;EAX08514;EAX08515;NP_001265361;NP_055702;NP_149102;Q92802 Hs.507680 1644593;1653418;1655087;1663531;1677122;1684808;1699814;1700604;1730347;1754359;1850993;2142352;2153010;2162591;5015619;5037552;7184752 D11S3114;D13S178E;D13S211;D8S2279;RH103514;RH103924;RH11180;RH45688;RH48473;RH66523;SHGC-132379;SHGC-24356;SHGC-36554;SHGC-54221;SHGC-56893;STS-W80632;WI-22804 92M18.3;CG005;FLJ36195;FLJ41089;FLJ43077;PFAAP5 92M18.3 (novel protein);CG016;NEDD4-binding protein 2-like 2;OTTHUMP00000018230;OTTHUMP00000218569;OTTHUMP00000218570;OTTHUMP00000222004;phosphonoformate immuno-associated protein 5;protein from BCRA2 region protein-coding ENSG00000244754 26916 15119 VALIDATED 1323512 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative) This gene encodes protein methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Mar 2012] 21 21 21 q21.3 15427774 15440965 - 29166384 29179564 - 30244513 30257695 - 6480464 18539146;14702039;12477932;10830953;8125298;20379614;21193388 29104 Q9Y5N5 AA825430;ABBA01057243;ABBA01057244;ABBA01057245;AF139682;AF227510;AK021678;AK092128;AK225515;AK314100;AL163248;AMYH01012186;AW136986;BC011554;BQ021620;CH471079;NM_013240;NM_182749;NR_047510 AAD38520;AAH11554;BAG36794;CAB90428;EAX09939;EAX09940;EAX09941;NP_037372;NP_877426;Q9Y5N5 Hs.163846 1680022;1681969 RH80363;RH93987 C21orf127;FLJ11616;HEMK2;MGC19995;MTQ2;N6AMT;PRED28 N6-DNA-methyltransferase;OTTHUMP00000096393;OTTHUMP00000096394;OTTHUMP00000096395;chromosome 21 open reading frame 127;hemK methyltransferase family member 2;m.HsaHemK2P;n(6)-adenine-specific DNA methyltransferase 1 APPROVED protein-coding 16021 10739 614553 REVIEWED 4145242 N4BP3 NEDD4 binding protein 3 5 5 5 q35.3 173167482 173180064 + 177473162 177485713 + 177540556 177553107 + 6480464 11717310;12477932;15324660;15489334;19615732;9205841 23138 O15049 AB002339;ABBA01009987;AC136632;AK127224;AK295663;AMYH01015938;BC027715;BC053323;CA487765;CH471165;NM_015111 AAH53323;BAA20799;BAC86891;BAG58525;EAW53851;EAW53852;EAW53853;EAW53854;NP_055926;O15049 Hs.101761 1690970;1740453;1763539;1765075 D5S2255E;RH93726;SHGC-147243;SHGC-148609 KIAA0341;LZTS4 NEDD4-binding protein 3;OTTHUMP00000223990 protein-coding ENSG00000145911 29852 VALIDATED 1606676 N6AMT2 N-6 adenine-specific DNA methyltransferase 2 (putative) 13 13 13 q12.11 2365009 2409998 - 20201070 20246057 - 21303073 21348057 - 6480464 18390568;14702039;12477932;17207965 221143 Q8WVE0 ABBA01068590;ABBA01068591;ABBA01068592;AK316604;AL512652;AMYH01004951;BC018091;CH471075;DQ823637;NM_174928 AAH18091;ABK41021;ADQ31719;BAG38191;EAX08277;EAX08278;EAX08279;EAX08280;NP_777588;Q8WVE0 Hs.26674 1767190;1850666;1854729 RH78188;SHGC-57777;WI-12504 ESP13 N(6)-adenine-specific DNA methyltransferase 2;OTTHUMP00000018102;OTTHUMP00000018103 protein-coding ENSG00000150456 27351 14135 PROVISIONAL 1625645 NAA11 N(alpha)-acetyltransferase 11, NatA catalytic subunit 4 4 4 q21.21 77533945 77542850 - 80457296 80466195 - 80238272 80247171 - 6480464 16638120;12477932;19660095;20419844;18029348;22292636;21987572;21906983;22048246 84779 H0Y8T0;Q9BSU3 ABBA01063392;AC023277;AC108466;AMYH01014333;BC004552;BC063623;BC080651;CH471057;NM_032693 AAH04552;AAH63623;AAH80651;AAI60080;EAX05841;NP_116082;Q9BSU3 Hs.676048 1770630;1770632;2114904;2167681;2171362;2174748 G16768;G33896;SHGC-24440;SHGC-53329;SHGC-67721;STS-N40474 ARD1B;ARD2;MGC10646;hARD2 =N-terminal acetyltransferase complex ARD1 subunit homolog B;ARD1 homolog B;N-alpha-acetyltransferase 11;N-alpha-acetyltransferase 11, NatA catalytic subunit;N-terminal acetyltransferase complex ARD1 subunit homolog B;OTTHUMP00000219262;OTTHUMP00000219263;human arrest defective 2;natA catalytic subunit APPROVED protein-coding 28125 VALIDATED 1346528 NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit 14 14 14 q22.3 37907349 37929551 + 56927024 56947636 + 57857271 57879466 + 6480464 14702039;12477932;19660095;21139048 122830 B3KS28;B4DK34;G3V3I2;J3KNC2;Q147X3 ABBA01018240;AK024885;AK025749;AK092674;AK296372;AK304257;AK307348;AL355834;AMYH01005752;BC048983;BC118589;BC122557;BX648700;CH471061;NM_001011713 AAI18590;AAI22558;BAG52590;BAG59046;BAG65123;EAW80704;EAW80705;NP_001011713;Q147X3 Hs.165465 1673237;1736388;1775246;2138918;2138920;2164422 A006D22;D14S645E;G20721;G30954;G35536;WI-13591 C14orf35;FLJ35355;MAK3;MGC141884;MGC141885;Mak3p;NAT12 N-acetyltransferase 12;N-acetyltransferase 12 (GCN5-related, putative);N-acetyltransferase MAK3 homolog;N-alpha-acetyltransferase 30;N-alpha-acetyltransferase 30, NatC catalytic subunit;OTTHUMP00000245793;OTTHUMP00000245794;OTTHUMP00000245796;chromosome 14 open reading frame 35;natC catalytic subunit;putative N-acetyltransferase APPROVED protein-coding 19844 16619 VALIDATED 1349422 NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X q28 152848571 152853662 - 153195280 153200607 - 1580863;6480464 7981673;15496142;11256614;19343046;19287988;18991565;18794801;18593917;17161380;17081983;16964243;16823041;16518407;16381901;16288748;16279846;16189514;15994306;15755738;15749829;15489336;15489334;12888564;12477932;12464182;11393533;11076863;16376303;22496479;19913121;20628086;16507339;16511565;19660095;19716809;19826488;19909012;20154145;20501853;20592467;21295525;21383206;21700266;22863883;22939629;20360068;8889548;21963094;21987572;23000965;22261620;21139048;21890473;21906983;22315407;22580278;17620599;22318606;23624078 8260 A8MWP7;B7Z9N2;C9JN83;C9JW55;F8W808;P41227 ABBA01045337;AK294081;AK296593;AK309083;AK315997;AMYH01023303;AY183134;AY183135;BC000308;BC019312;BC063377;BI192945;CA313208;CH471172;CR979270;NG_031987;NM_001256119;NM_001256120;NM_003491;U52112;X77588 AAH00308;AAH19312;AAH63377;BAG57422;BAG59209;BAH14368;CAA54691;CAL37430;CAL38702;EAW72773;EAW72774;EAW72775;EAW72776;NP_001243048;NP_001243049;NP_003482;P41227 Hs.433291 1806178;1807150;1809238;1809560;1809562;1835564;1840386;2034392;2034394;2034396;2034398;2034400;2034402;2034404;2034406;2034408;2034410;2034412;2034414;2034416;2034418;2034420;2034422;2034424;2034426;2034428;2034430;2034432;2034434;2034436;2034438;2034440;2034442;2034444;2034446;2034448;2034450;2102128;2102130;2102132 ECD04043;ECD04541;ECD05609;ECD05772;ECD05773;ECD18938;ECD21378;REN88205;REN88206;REN88207;REN88208;REN88209;REN88210;REN88211;REN88212;REN88213;REN88214;REN88215;REN88216;REN88217;REN88218;REN88219;REN88220;REN88221;REN88222;REN88223;REN88224;REN88225;REN88226;REN88227;REN88228;REN88229;REN88230;REN88231;REN88232;REN88233;REN88234;stSG603701;stSG603703;stSG603705 ARD1;ARD1A;DXS707;FLJ78896;MGC71248;NATD;TE2 ARD1 homolog A, N-acetyltransferase;ARD1 homolog, N-acetyltransferase;N-acetyltransferase ARD1, human homolog of;N-alpha-acetyltransferase 10;N-alpha-acetyltransferase 10, NatA catalytic subunit;N-terminal acetyltransferase complex ARD1 subunit homolog A;OTTHUMP00000026001;OTTHUMP00000026002;OTTHUMP00000064808;OTTHUMP00000064809;OTTHUMP00000180622;OTTHUMP00000180623;ard1 homolog, n-acetyltransferase (s. cerevisiae);natA catalytic subunit APPROVED protein-coding 18704 02056 300013;300855 REVIEWED 1605042 NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010] 12 12 12 q24.13 112089963 112172115 - 110948876 111030980 - 112464493 112546635 - 6480464 22814378;17353931;18978792;18570629;17554260;14702039;12477932;17554300;19565500;19660095;20089178;20203524;20549515;20962850;21437268;21832049;22939629;19322201;22493691;21139048;21890473;21906983 80018 F8VSB9;F8W0N5;F8W1S0;H0YHR9;Q14CX7 AA653507;AB054990;ABBA01019917;ABBA01019918;ABBA01019919;AC073575;AK023151;AK292485;AK307494;AK309772;AL832394;AMYH01004754;AV760516;BC034357;BC047640;BC065481;BC095484;BC113585;BC113587;BX641140;BX647450;BX647992;CH471054;NG_017071;NM_024953 AAH34357;AAI13586;AAI13588;BAB14432;BAC80174;BAF85174;CAE46062;EAW97993;EAW97994;NP_079229;Q14CX7 Hs.530941 1690758;1695492;2170263;2172502 RH79958;SHGC-68645;WI-12421;WI-13464 C12orf30;DKFZp667K2112;FLJ13089;MDM20;NAP1 N-alpha-acetyltransferase 25, NatB auxiliary subunit;N-terminal acetyltransferase B complex subunit NAA25;OTTHUMP00000241755;mitochondrial distribution and morphology 20;natB complex subunit MDM20 APPROVED protein-coding ENSG00000111300 25783 08578 612755 REVIEWED 1343133 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit This gene encodes a protein of unknown function. However, similarity to proteins in yeast and other species suggests that this protein may be an N-acetyltransferase. [provided by RefSeq, Jul 2008] 4 4 q31.1 140442126 140531385 + 140222676 140311935 + 6480464 15496142;12145306;12140756;17081983;16518407;16518308;16279846;15815621;15489334;14702039;12477932;12145312;12145309;12087473;12019451;11687548;11478804;16507339;16638120;19660095;20154145;18029348;20562859;22863883;22939629;22586326;20360068;21139048;21890473;21906983;22145905;22505724 80155 D6RAP7;Q58F05;Q9BXJ9 ABBA01069954;ABBA01069955;ABBA01069956;ABBA01069957;ABBA01069958;AC097376;AF327722;AJ314788;AK001595;AK023387;AK023402;AK304417;AK314626;AMYH01014571;AY039242;AY112670;BC032642;BC039818;BC093928;BC104806;CH471056;NM_057175 AAH32642;AAH39818;AAH93928;AAI04807;AAK15707;AAK68661;AAM48746;AAY40950;BAB14562;BAG37192;BAG65248;CAC43228;EAX05118;EAX05119;EAX05120;NP_476516;Q9BXJ9 Hs.555985 1707792;2106701;2119258;2124623;2152198;2191141;5017524 D4S2568E;D4S2830;MARC_15315-15316:1013436374:1;NARG1;SHGC-67742;SHGC-82119;TBDN100__5224 Ga19;NARG1;NATH;TBDN100 N-alpha-acetyltransferase 15, NatA auxiliary subunit;N-terminal acetyltransferase;NMDA receptor regulated 1;NMDA receptor-regulated protein 1;OTTHUMP00000174300;OTTHUMP00000174301;gastric cancer antigen Ga19;protein tubedown-1;transcriptional coactivator tubedown-100;tubedown-1 APPROVED protein-coding ENSG00000164134 30782 10471 608000 VALIDATED 1606244 NAA16 N(alpha)-acetyltransferase 16, NatA auxiliary subunit 13 13 13 q14.11 22943061 23008776 + 40783418 40849162 + 41885341 41951166 + 6480464 16344560;15761153;15489334;15057823;14702039;12477932;11483580;19480662;19660095;17207965;22939629;18029348;21139048;21906983;18239623;20360068;21890473 79612 A4FU51;Q6N069 ABBA01021272;AK025707;AK097224;AK291248;AL354696;AL590665;AL731858;AL833341;AMYH01005061;BC017099;BC028112;BC032318;BC064592;BC101719;BC101721;BC143506;BE501152;BX640665;CH471075;DB078940;NM_001110798;NM_018527;NM_024561 AAH17099;AAH28112;AAH32318;AAH64592;AAI01720;AAI01722;ADQ32355;BAB15222;BAF83937;CAE45801;EAX08654;EAX08655;EAX08656;EAX08657;EAX08658;EAX08659;EAX08660;NP_001104268;NP_060997;NP_078837;Q6N069 Hs.512914 1671554;1671556;1671558;1742069;2143110 GDB:190835;SHGC-16596;SHGC-57982;STS-F10018;WI-20660 DKFZp686O08147;MGC40612;NARG1L;RP11-396A22.1 N-alpha-acetyltransferase 16, NatA auxiliary subunit;NARG1-like protein;NMDA receptor regulated 1-like;NMDA receptor-regulated 1-like protein;OTTHUMP00000018318;OTTHUMP00000018320;OTTHUMP00000198977 APPROVED protein-coding ENSG00000172766 26164 07977 VALIDATED 1317063 NAA20 N(alpha)-acetyltransferase 20, NatB catalytic subunit NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009] 20 20 p11.23 19945937 19962269 + 19997934 20014273 + 6480464 11256614;18570629;16823041;16507339;16381901;15489336;15489334;12888564;12783868;12477932;11780052;11230166;11076863;10748148;20639454;19660095;19744929;20145209;8889548;21139048;21890473;21906983;22318606;22939629;19716809;22797925 51126 A8MZB2;P61599 ABBA01054080;AF085355;AK311819;AL035454;AL049538;AL136641;AMYH01011760;BC005181;BC008446;BG548527;BU680824;BX338359;CA867744;CA952537;CB959658;CH471133;NM_016100;NM_181527;NM_181528 AAD40190;AAH05181;AAH08446;ABM83445;ABM86628;ABM86657;BAG34761;CAB66576;CAL38347;CAL38437;EAX10213;EAX10214;EAX10215;NP_057184;NP_852668;NP_852669;P61599 Hs.368783;Hs.708298 1655356;1693398;1852819;5024761 AL034511;RH36905;SHGC-34171;SHGC-35956 NAT3;NAT5;dJ1002M8.1 N-acetyltransferase 3 homolog;N-acetyltransferase 5;N-acetyltransferase 5 (GCN5-related, putative);N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog);N-alpha-acetyltransferase 20;N-alpha-acetyltransferase 20, NatB catalytic subunit;N-terminal acetyltransferase B complex catalytic subunit NAA20;N-terminal acetyltransferase B complex catalytic subunit NAT5;N-terminal acetyltransferase complex ARD1 subunit;OTTHUMP00000030374;OTTHUMP00000205164;OTTHUMP00000205165;dJ1002M8.1 (N-terminal acetyltransferase complex ard1 subunit);dJ1175I6.2 (N-terminal acetyltransferase complex ard1 subunit);methionine N-acetyltransferase;natB catalytic subunit;natB complex subunit NAT5 APPROVED protein-coding ENSG00000173418 15908 07136 610833 VALIDATED 1347911 NAA35 N(alpha)-acetyltransferase 35, NatC auxiliary subunit 9 9 9 q21.33 59127997 59209159 + 87745877 87827037 + 88556057 88637217 + 6480464 16344560;14702039;12477932;10855038;8889548;8125298;19660095;18029348;22118674;21139048 60560 B1AM43;Q5VZE5;Q5VZE6 ABBA01034047;AK025266;AK026296;AK056059;AK225237;AK292239;AL161447;AL161453;AL353743;AMYH01021472;AMYH01021473;BC117427;BC117429;CA945233;CH471089;DB023442;NM_024635 AAI17428;AAI17430;BAB15097;BAB15435;BAF84928;BAG51612;EAW62702;EAW62703;EAW62704;NP_078911;Q5VZE5 Hs.436098 1727577;1739367 D9S1649E;G63197 FLJ21613;FLJ22643;MAK10;RP11-379P1.1;bA379P1.1 MAK10 homolog, amino-acid N-acetyltransferase subunit;N-alpha-acetyltransferase 35, NatC auxiliary subunit;OTTHUMP00000021584;corneal wound healing-related protein;embryonic growth-associated protein homolog;protein MAK10 homolog APPROVED protein-coding ENSG00000135040 24340 11291 VALIDATED 1322131 NAA50 N(alpha)-acetyltransferase 50, NatE catalytic subunit 3 3 3 q13.2 111846332 111873586 - 114920531 114947786 - 113435307 113465120 - 737633;1580863;6480464 12477932 16507339;17502424;14702039;19398576;19660095;16341674;20360068;21900231;20639865;22311970;20972266;21139048;21890473;21906983;21963094;22053931;22505724 80218 B0AZT5;C9J5D1;C9J5J3;C9JZU6;E7EQ69;F8WCK0;Q9GZZ1 ABBA01061650;AC108693;AK022540;AK023090;AK023256;AK296456;AK307184;AK315876;AMYH01013397;BC012731;BM831426;CH471052;CR749314;H16725;NM_025146 AAH12731;ABM84090;ABM87460;BAB14397;BAB14490;BAF98767;BAG59104;CAH18169;EAW79629;EAW79630;EAW79631;NP_079422;Q9GZZ1 Hs.372378 1649875;1679938;1697620;1735952;1769289;1772999;1778993;2156688;2160532;5094070;5096062 D3S2891E;D3S4251;DXS6978E;G34955;RH102322;RH35991;RH67016;SHGC-77212;STS-N20593;WI-14701;WI-18032 FLJ13194;MAK3;NAT13;NAT5;SAN;hNAT5;hSAN Mak3 homolog;N-acetyltransferase 13;N-acetyltransferase 13 (GCN5-related);N-acetyltransferase 5;N-acetyltransferase san homolog;N-alpha-acetyltransferase 50;N-alpha-acetyltransferase 50, NatE catalytic subunit;OTTHUMP00000214738;OTTHUMP00000214741;OTTHUMP00000214742;mak3 homolog (s. cerevisiae);natE catalytic subunit;separation anxiety APPROVED protein-coding 29533 14350 610834 VALIDATED 1602685 NAA40 N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) 11 11 11 q13.1 61033211 61051232 + 63463044 63481020 + 63706442 63724458 + 6480464 16344560;15203218;14702039;12477932;19695338;17207965;19660095;22939629;21139048;21935442 79829 B4DR03;B4DU10;F5GXF6;F5GY41;F5H2C9;Q86UY6 ABBA01003280;ABBA01003281;ABBA01003282;AK023910;AK299041;AK300451;AK303557;AMYH01003699;AP003780;BC024160;BC041617;BC052298;BX647309;CD632281;CH471076;DA649381;JF263566;NM_024771 AAH41617;AAH52298;ADQ32193;ADZ48533;BAB14720;BAG61115;BAG62172;BAG64581;CAI46006;EAW74183;EAW74184;EAW74185;NP_079047;Q86UY6 Hs.523753 1764123;2174929;5024756;5037552;5093940 A009Z16;D8S2279;G33013;RH80030;SHGC-147773 FLJ13848;NAT11;PATT1 N-acetyltransferase 11 (GCN5-related, putative);N-alpha acetyl transferase 40;N-alpha-acetyltransferase 40;N-alpha-acetyltransferase 40, NatD catalytic subunit;OTTHUMP00000236852;OTTHUMP00000236855;natD catalytic subunit APPROVED protein-coding ENSG00000110583 25845 07838 VALIDATED 6481079 NAALADL2-AS1 NAALADL2 antisense RNA 1 100874245 AC104150 APPROVED miscrna 41016 6481077 NAALADL2-AS2 NAALADL2 antisense RNA 2 100874244 AC119732;AC135037 APPROVED miscrna 41015 5688427 NAALADL2-AS3 NAALADL2 antisense RNA 3 3 q26.3 174797102 174833032 - 100862679 ABBA01058614;AC112510;AMYH01013664;NR_046390 Hs.148810 APPROVED miscrna ENSG00000230292 41014 VALIDATED 1314164 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. [provided by RefSeq, Jul 2008] 11 11 11 q14.3-q21 87168325 87226293 + 89507530 89565424 + 89867818 89925779 + 1580863;6480464 10085079;16303743;15146197;12477932;12204797;11905994;21738478;19678840;20379614 10003 E9PII2;E9PJ53;E9PJV2;E9PKX5;J3KNJ3;Q4KKV4;Q9Y3Q0 ABBA01040072;AJ012370;AK075390;AL133614;AMYH01003935;AMYH01003936;AP000648;BC027594;BC038840;BC067793;BC096316;BC096317;BC096318;BC099646;CH471065;CN355388;CS051189;NM_005467 AAH27594;AAH38840;AAH96316;AAH96317;AAH96318;AAH99646;BAG52126;CAB39967;CAI72090;EAW66865;NP_005458;Q9Y3Q0 Hs.503560 1659933;1659935;1690454;1710414;1754589;2106545 NAALAD2__6206;RH46277;RH92833;SHGC-132875;SHGC-53907;SHGC-82492 GCPIII;GPCIII;MGC116996;MGC26353;NAADALASE2;NAALADASE2 N-acetylated alpha-linked acidic dipeptidase II;N-acetylated-alpha-linked acidic dipeptidase 2;N-acetylated-alpha-linked acidic dipeptidase II;NAALADase II;OTTHUMP00000232738;OTTHUMP00000232739;glutamate carboxypeptidase III APPROVED protein-coding ENSG00000077616 14526 07494 611636 REVIEWED 1605347 NAA60 N(alpha)-acetyltransferase 60, NatF catalytic subunit 16 16 16 p13.3 3700439 3743751 + 3433669 3476964 + 3493668 3536963 + 6480464 21750686;16344560;14702039;12975309;12477932;8125298;17207965;21981917 79903 I3L115;I3L153;I3L1B9;I3L1L7;I3L1T4;I3L1X5;I3L205;I3L2B4;I3L2K7;I3L2M6;I3L4Q3;I3L4Q5;I3L4T5;Q6UX26 ABBA01026740;AC004224;AC025283;AK021755;AK024216;AK092005;AK095819;AK130792;AK225178;AK297219;AK298566;AK302361;AK311524;AL833594;AMYH01007093;AY358543;BC011267;BG472911;BU501490;CH471112;CR457324;DA736660;DA786716;NM_001083600;NM_001083601;NM_024845 AAH11267;AAQ88907;ADQ31609;BAB14853;BAG52462;BAG59702;BAG60760;BAG63686;CAG33605;EAW85358;EAW85359;EAW85360;EAW85361;EAW85362;EAW85363;EAW85364;NP_001077069;NP_001077070;NP_079121;Q9H7X0 Hs.513296 FLJ11693;FLJ14154;HAT4;NAT15 N-acetyltransferase 15;N-acetyltransferase 15 (GCN5-related, putative);N-alpha-acetyltransferase 60;OTTHUMP00000196830;histone acetyltransferase type B protein 4;natF catalytic subunit APPROVED protein-coding ENSG00000122390 25875 07852 614246 VALIDATED 732561 NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1 11 11 11 q12 62138226 62152309 - 64568871 64582585 - 64812295 64826009 - 1580863;6480464 9388249;10085079;8889548;12477932 10004 C9JFW8;C9JX16;E9PII9;E9PIU1;E9PJQ1;E9PKG8;E9PKR0;E9PKW7;E9PLR8;E9PRC7;H0YDS5;H0YEI8;Q9UQQ1 ABBA01024136;ABBA01024137;AF010141;AJ012371;AK309536;AK311090;AMYH01003716;AP003068;BC143643;BC143644;BG757994;BM681269;CH471076;NM_005468 AAB87645;AAI40322;CAB39968;EAW74340;NP_005459;Q9UQQ1 Hs.13967 1655624;1737115 D11S2907;RH11696 I100;NAALADASEL 100 kDa ileum brush border membrane protein;N-acetylated-alpha-linked acidic dipeptidase-like protein;NAALADase L;OTTHUMP00000230362;OTTHUMP00000230364;OTTHUMP00000230365;OTTHUMP00000230366;ileal dipeptidylpeptidase;ileal peptidase I100;n-acetylated alpha-linked acidic dipeptidase-like (ileal peptidase i100) protein-coding ENSG00000168060 23536 07212 602640 VALIDATED 1606935 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 3 3 3 q26.31 172978213 173925324 + 176059805 177006122 + 174577111 175523428 + 19132087;15168106;12477932;21145461;20379614;21408207;23509962;21832049;23319000;23456168 254827 C9JQ86;Q58DX5;Q6H9J7 ABBA01058608;ABBA01058609;ABBA01058610;ABBA01058611;ABBA01058612;ABBA01058613;ABBA01058614;ABBA01058615;ABBA01058616;AC008180;AC069418;AC078803;AC083804;AC104150;AC112510;AC119040;AC119732;AC119744;AC135037;AJ607395;AJ607396;AJ607397;AJ607398;AJ607399;AJ607400;AJ607401;AK131044;AK308416;AL832144;AL832931;AMYH01013658;AMYH01013659;AMYH01013660;AMYH01013661;AMYH01013662;AMYH01013663;AMYH01013664;AMYH01013665;AMYH01013666;AMYH01013667;AMYH01013668;BC057243;BN000432;NM_207015 AAH57243;AAI56166;AAI56974;CAE54973;CAE54974;CAE54975;CAE75743;CAH56310;NP_996898;Q58DX5 Hs.565848;Hs.603646;Hs.660010 1338484;1652629;1672673;1700356;1704724;1704748;1719729;1720125;1726375;1727765;1750289;1754941;1756067;1778810;1784666;1851653;2124904;2174556 AFMB331XF5;D3S2421;G09876;G62488;G63148;RH103798;RH123554;RH123805;RH47977;SHGC-112616;SHGC-141861;SHGC-142870;SHGC-144026;SHGC-53409;SHGC-77555;SHGC-77557;SHGC-79642;SHGC-79655 N-acetylated alpha-linked acidic dipeptidase 2;NAALADase L2;OTTHUMP00000211440;glutamate carboxypeptidase II-type non-peptidase homologue;inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 protein-coding ENSG00000177694 23219 16388 608806 VALIDATED 1318211 NAA38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010] 7 7 7 q31.1-q31.3 112633566 112653561 + 117611322 117620116 + 117824086 117844093 + 1580863;6480464;6907045 10523320;15231747;16344560;16051491;15489334;14667819;12853948;12690205;12477932;11920408;10369684;9847074;8889548;21628590;17620012;14702039;19615732;19660095;22863883;22939629;20360068;21139048;22875987 51691 A4D0W0;C9JIZ0;C9JNV3;F2Z2Y6;O95777 AACC02000001;ABBA01057790;AC006389;AF182294;AK090561;AK311936;AL600056;AMYH01017889;BC002742;BC022440;BC042464;BC045532;BC053644;BC064376;BM972935;CH236947;CH471070;DA112078;DA318705;DA478457;DB275674;NM_016200 AAD15542;AAD56232;AAH02742;AAH22440;BAG34877;EAL24351;EAW83535;EAW83536;EAW83537;NP_057284;O95777 Hs.655046 1654618;1661100;1686796;1690610;5015619;5020414;5022651;5109281 A004D12;D11S2921;D11S3114;D1S1425;D7S2757;L17688;RH98358;RH99082 FLJ33242;LSM8;YJR022W LSM8 homolog, U6 small nuclear RNA associated;MAK31-like protein;N-alpha-acetyltransferase 38, NatC auxiliary subunit;OTTHUMP00000211114;OTTHUMP00000211115;OTTHUMP00000211116;U6 snRNA-associated Sm-like protein LSm8 APPROVED protein-coding 20471 06288 607288 REVIEWED 1316359 NAAA N-acylethanolamine acid amidase This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q21.1 77050832 77081190 - 76831808 76862166 - 1580863;6480464 10610717;19014633;18806270;18020949;17980170;16341674;15655246;15610181;15489334;12477932;8889548;1446826;21832049;22040171 27163 B4DVL2;D6R9S9;H0Y988;Q02083;R4GNC0 AB161353;ABBA01063351;ABBA01063352;ABBA01063353;AC110615;AK024677;AK301132;AK309271;AMYH01014309;AV723847;BC006388;BC011854;BM682921;BM763257;CH471057;DR156596;M92449;NM_001042402;NM_014435;W47597 AAA60119;AAH06388;BAD88528;BAG62724;EAX05756;EAX05757;EAX05758;EAX05759;EAX05760;NP_001035861;NP_055250;Q02083 Hs.437365 1679393;2134077;2180894;5037552 D8S2279;RH99042;WI-11412;WI-11632 ASAHL;PLT ASAH-like protein;N-acylethanolamine-hydrolyzing acid amidase;N-acylsphingosine amidohydrolase (acid ceramidase)-like;N-acylsphingosine amidohydrolase-like;OTTHUMP00000219231;OTTHUMP00000219430;OTTHUMP00000221103;acid ceramidase-like protein APPROVED protein-coding ENSG00000138744 736 12122 607469 REVIEWED 1625101 NACA3P NACA family member 3 pseudogene 4 4 4 q32.3 163196424 163197221 + 166083890 166084651 + 165864395 165865192 + 9847074 389240 ABBA01070287;AC106872;AMYH01014673;NG_005843 NACA3 pseudo 33442 INFERRED 1625090 NACAD NAC alpha domain containing 7 7 7 p13 45218992 45227329 - 45067578 45095757 - 45120036 45128493 - 6480464 12853948;9205841;8889548;21900206 23148 O15069 AACC02000110;AB002361;ABBA01058247;AC013416;AMYH01017221;BM680676;BM728120;CH236960;EG328798;NM_001146334 BAA20818;NP_001139806;O15069 Hs.96633 1645577;2117945 RH48537;SGC32245 KIAA0363 NAC-alpha domain-containing protein 1;OTTHUMP00000214258 protein-coding ENSG00000136274 22196 VALIDATED 1601970 NABP2 nucleic acid binding protein 2 Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] 12 12 12 q13.3 56271047 56276531 + 54904774 54909795 + 56618125 56623638 + 6480464 18449195;12477932;17207965;19605351;19683501;19786574;20133760;22939629;18029348;23178594;23184057 79035 C9JMP5;C9JT95;Q9BQ15 ABBA01008412;AC073896;AI038029;AMYH01004502;AY203942;BC001079;BC006171;BG697807;CH471054;NM_024068 AAH01079;AAH06171;AAP34465;ADQ32470;EAW96912;EAW96913;EAW96914;EAW96915;NP_076973;Q9BQ15 Hs.240170 5015961 D15S1477 MGC2731;OBFC2B;SOSS-B1;SSB1;hSSB1 LP3587;OTTHUMP00000201882;OTTHUMP00000201883;OTTHUMP00000201884;OTTHUMP00000201885;OTTHUMP00000201886;SOSS complex subunit B1;nucleic acid-binding protein 2;oligonucleotide/oligosaccharide-binding fold containing 2B;oligonucleotide/oligosaccharide-binding fold-containing protein 2B;sensor of single-strand DNA complex subunit B1;sensor of ssDNA subunit B1;single strand DNA-binding protein 1;single-stranded DNA-binding protein 1 APPROVED protein-coding ENSG00000139579 28412 14522 612104 VALIDATED 1345487 NACB nascent-polypeptide-associated complex beta polypeptide 8047162 7630 1603967 NABP1 nucleic acid binding protein 1 Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] 2 2 2 q32.3 186137910 186148360 + 192251503 192259906 + 192542798 192553248 + 6480464 18449195;14702039;12477932;19605351;19683501;17207965;20133760;19322201;21139048;16344560;23266556 64859 F8WAF5;H7C0W4;Q96AH0 ABBA01062398;AC114778;AK023686;AK026486;AL832659;AL833684;AMYH01011352;BC017114;BC107723;BI553898;CA307622;CH471058;DA026631;DB477793;NM_001031716;NM_001254736;NR_045622;NR_045623 AAH17114;AAI07724;AAY24348;ADQ32447;BAB15491;CAH56209;EAX10835;EAX10836;EAX10837;EAX10838;NP_001026886;NP_001241665;Q96AH0 Hs.591610 DKFZp667M1322;FLJ13624;FLJ22833;MGC111163;OBFC2A;SOSS-B2;SSB2 OTTHUMP00000163594;OTTHUMP00000205480;OTTHUMP00000206044;OTTHUMP00000206045;SOSS complex subunit B2;SOSS-B2;hSSB2;nucleic acid-binding protein 1;oligonucleotide/oligosaccharide-binding fold containing 2A;oligonucleotide/oligosaccharide-binding fold-containing protein 2A;sensor of single-strand DNA complex subunit B2;sensor of ssDNA subunit B2;single-stranded DNA-binding protein 2 APPROVED protein-coding ENSG00000173559 26232 08009 612103 VALIDATED 736700 NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 2 2 q32.3-q33 191222093 191265737 + 191513848 191557492 + 729281;1580863;6480464 7624335 21252943;8668170;18029348;17853270;17081983;15815621;15489334;15146197;12477932;12030330;11687510;11018254;9418898;8889548;20379614;21399635;21239760;16574654;20211142;21693764;19471022;19322201 4664 B4DKG1;B8ZZS2;C9J3V0;C9JFF6;C9JID4;C9JJ42;C9JL92;F8W8J7;H0Y4C5;Q13506 ABBA01062388;AC006460;AF045451;AF045452;AF052744;AK292446;AK296549;AK313542;AMYH01011347;BC035724;CF137213;CH471058;CN288145;NM_005966;U47007 AAC25085;AAC25086;AAC28325;AAC50588;AAH35724;AAX93076;ABM82118;ABW03366;BAF85135;BAG59173;EAX10862;EAX10863;EAX10864;EAX10865;NP_005957;Q13506 Hs.730686 1656937;1668570;1757575;1775353;1792326;2140021;2169373;2190973 HSC1FG122;MARC_12193-12194:1004713732:1;PMC140827P2;RH18507;RH68295;SHGC-145034;WI-14700;WI-14899 EGR-1-binding protein 1;EGR1 binding protein 1;NGFI-A-binding protein 1;OTTHUMP00000163542;OTTHUMP00000205859;OTTHUMP00000205860;OTTHUMP00000205866;transcriptional regulatory protein p54 protein-coding ENSG00000138386 7626 02881 600800 VALIDATED 1323313 NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2) This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 12 12 q13.3 55768944 55775526 + 57482677 57489259 + 1580863;6480464 8668170;17081983;16574654;16344560;16260776;15489334;12477932;12427750;12030330;11567222;11135623;9774344;9722618;9126479;8649813;19423540;19888474;20237496;20406964;20438785;19913121;20628086;20506119;21693764;22939629;21836637;22075330;19471022;22431919;23313952;23313954 4665 Q15742 ABBA01008449;ABBA01008450;AC023237;AF268380;AJ011081;AK314229;AMYH01004511;AMYH01004512;BC007756;BC065931;CH471054;DA496543;NM_005967;U48361;U66574;X70991 AAC50589;AAF72545;AAH65931;BAG36900;CAA09472;CAA50318;EAW96987;EAW96988;EAW96989;NP_005958;Q15742 Hs.159223 1665499;1712134;1792328;1797896;2125246;2153520;5093412 A009O16;G32703;G54117;NAB2_2330;PMC140827P3;STS-X70991;WI-19169 MADER;MGC75085 EGR-1-binding protein 2;EGR1 binding protein 2;NGFI-A-binding protein 2;OTTHUMP00000245389;OTTHUMP00000245390;melanoma-associated delayed early response protein APPROVED protein-coding ENSG00000166886 7627 03854 602381 REVIEWED 1605228 NACA2 nascent polypeptide-associated complex alpha subunit 2 17 17 17 q23.2 58768819 58769588 - 57022569 57023345 - 59667794 59668563 - 7622554;18391951;16201836;15489334;12477932;12406326;10982809;21319273;22939629;17207965;20546612;21110914;21906983;20214399 342538 Q9H009 ABBA01035382;AC002994;AJ278883;AMYH01008534;BC062710;DQ120612;NM_199290 AAH62710;ABB92399;ADQ32052;CAC06614;NP_954984;Q9H009 Hs.591178 1858138;2111514;5109717 D11S4466;D12S1140E;RH47186 ANAC;MGC71999;NACAL IgE autoantigen alpha-nascent polypeptide-associated complex;NAC-alpha-like;OTTHUMP00000225021;alpha-NAC protein;alpha-NAC-like;hom s 2.01 protein;nascent polypeptide-associated complex subunit alpha-2;nascent polypeptide-associated complex subunit alpha-like;nascent polypeptide-associated complex, alpha polypeptide, 2;nascent-polypeptide-associated complex alpha polypeptide-like protein-coding ENSG00000253506 23290 16487 609274 VALIDATED 1605022 NACAP1 nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 8 8 8 q22.3 98566063 98566765 + 102450297 102450999 + 102381121 102381823 + 6480464 17353931;12477932;19615732;22939629;21139048;21903422;21906983 83955 Q9BZK3 ABBA01037591;AF315951;AMYH01018932;AP001208;BC069062;BC069411;BC069542;BC074958;BC074959;NR_002182 AAG50269;Q9BZK3 Hs.567608 1788402;5015961;5024039;5037552;5109717;5492727;5493987 D12S1140E;D15S1477;D16S325;D8S2279;UniSTS:480654;UniSTS:482150;fa27d08.s1 FKSG17 pseudo ENSG00000228224 24688 PROVISIONAL 732621 NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012] 19 19 p13.2 13090109 13112959 + 13229102 13251961 + 737633;1580863;6480464 12477932 21240255;17804717;17130457;17391728;19305429;18483383;18347169;16033423;15489334;15302935;14702039;11906783;17699672;21301057;18029348;19121354;19407373;20372782;20869761;22665369;21562571;21743489;21889186;22024751;22993327;19471022;21693764;21906983;21963094;23252869;23251661;22665267;23022214;22653145 112939 K7ELC5;K7ENW4;Q96RE7 ABBA01029753;AC005546;AC011446;AF395817;AK094702;AK123056;AK226064;AMYH01009502;AMYH01009503;BC055396;BU508302;BU623112;BX395451;CH471106;NM_052876 AAH55396;AAK83885;EAW84352;EAW84353;EAW84354;NP_443108;Q96RE7 Hs.531614 1701352 RH104306 BEND8;BTBD14B;BTBD30;FLJ37383;NAC-1;NAC1 BEN domain containing 8;BTB (POZ) domain containing 14B;BTB/POZ domain-containing protein 14B;nucleus accumbens-associated protein 1;transcriptional repressor NAC1 APPROVED protein-coding ENSG00000160877 20967 10692 610672 REVIEWED 1319559 NACC2 NACC family member 2, BEN and BTB (POZ) domain containing 9 9 9 q34.3 109421076 109505450 - 138043023 138126952 - 138898383 138987131 - 737633;1580863;6480464 12477932 15489334;15164053;20379614;16341674;14702039;21906983 138151 Q96BF6 ABBA01030050;ABBA01030051;ABBA01030052;ABBA01030053;ABBA01030054;ABBA01030055;ABBA01030056;AK056521;AK094914;AL138781;AL355574;AL591038;AMYH01021852;AMYH01021853;AMYH01021854;AMYH01021855;BC015649;BM791117;CH471090;NM_144653 AAH15649;ABM84400;ABM87147;EAW88193;EAW88194;EAW88195;EAW88196;EAW88197;NP_653254;Q96BF6 Hs.112895;Hs.736561 1700984;1765245;2163566 RH104119;SHGC-148734;SHGC-57330 BEND9;BTBD14;BTBD14A;BTBD31;MGC23427 BEN domain containing 9;BTB (POZ) domain containing 14A;BTB/POZ domain-containing protein 14A;NAC-2;OTTHUMP00000022564;nucleus accumbens-associated protein 2 protein-coding ENSG00000148411 23846 09831 VALIDATED 1318533 NACA nascent polypeptide-associated complex alpha subunit The protein encoded by this gene associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). NAC binds to nascent proteins as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. However, nascent proteins with an exposed signal peptide will not be bound by the encoded protein, enabling them to bind the SRP and enter the secretory pathway. This protein has been determined to be an IgE autoantigen in atopic dermatitis patients. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 q23-q24.1 55392486 55405318 - 57106211 57119326 - 1580863;6480464 21145461;8047162;16201836;16169070;15784678;15489334;15345747;15196207;14702039;12699894;12689679;12684039;12477932;12406326;12209604;12109594;12011100;11042152;10982809;10224091;9488446;9488445;8835540;8698236;8125298;19609276;20214399;21509594;22863883;22939629;21800051;16196087;20000738;20360068;21903422;22082360;18781797;20972266;21139048;21890473;21906983;21110914;21907836;22145905;16009940;22779921;17676665;22053931;22505724 4666 B2R4P8;E9PAV3;F8VNW4;F8VZ58;F8VZJ2;F8W029;F8W0C7;F8W0W4;F8W1N5;H0YHX9;Q13765 ABBA01008435;AC117378;AF054187;AK090650;AK096699;AK223085;AK293209;AK311904;AMYH01004508;AY034001;AY605660;AY911673;BC105120;BC105122;BC106041;BG709003;CD246364;CH471054;CR450295;DB487006;NG_030341;NM_001113202;NM_001113203;NR_045277;X80909 AAC99403;AAI05121;AAI05123;AAI06042;AAK57544;AAV83778;AAX14393;BAD96805;BAG34845;BAG52208;BAG56749;CAA56869;CAG29291;EAW96960;EAW96961;NP_001106673;NP_001106674;Q13765 Hs.505735 1744363;1788402;2111514;5015619;5022463;5037552;5109281;5109717 D11S3114;D11S4466;D12S1140E;D1S1425;D3S1673;D8S2279;GDB:451821;fa27d08.s1 HSD48;MGC117224;NACA1 NAC-alpha;OTTHUMP00000242658;OTTHUMP00000242659;OTTHUMP00000242660;OTTHUMP00000242827;OTTHUMP00000242828;OTTHUMP00000242829;OTTHUMP00000243058;alpha-NAC;nascent polypeptide-associated complex subunit alpha;nascent-polypeptide-associated complex alpha polypeptide APPROVED protein-coding ENSG00000196531 7629 03137 601234 REVIEWED 6903986 NADK2-AS1 NADK2 antisense RNA 1 p13.2 12477932 101056700 BC033402 Hs.570980 APPROVED miscrna 41143 1604237 NADK2 NAD kinase 2, mitochondrial 5 5 5 p13.2 36078373 36127931 - 36228451 36278015 - 36192694 36242258 - 6480464 14702039;12477932;7566098;17207965;23212377;22939629;19322201;21890473;21906983;21963094;23616928 133686 B7Z8V7;D6RHI4;H0Y9H7;Q4G0N4 AA332693;ABBA01024164;ABBA01024165;ABBA01024166;ABBA01024167;AC008807;AC008942;AI377881;AK055158;AK057950;AK304009;AMYH01015025;AMYH01015026;AY360463;BC032912;BC045565;BC062567;BM990433;BX648388;CH471119;NM_001085411;NM_153013 AAH32912;AAH62567;AAQ62967;ADQ32546;BAB70864;BAH14093;EAW55939;EAW55940;EAW55941;NP_001078880;NP_694558;Q4G0N4 Hs.81907 1652751;1670494;1672141;1687608;1787068;2129503;2164106;2170105;5015961;7186737 D15S1477;D5S1859;HSCZOB052;RH45821;RH91756;SGC33855;SHGC-154597;STS-T98033;WI-12390 C5orf33;FLJ30596;MGC43298;MNADK;NADKD1 NAD kinase domain containing 1;NAD kinase domain-containing protein 1;NAD kinase domain-containing protein 1, mitochondrial;OTTHUMP00000161732;OTTHUMP00000221392;OTTHUMP00000221393;OTTHUMP00000221394;OTTHUMP00000221422;hypothetical protein LOC133686;mitochondrial NAD kinase APPROVED protein-coding ENSG00000152620 26404 08088 VALIDATED 1606514 NADK NAD kinase NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008] 1 1 1 p36.33 885216 912446 + 1672531 1699769 - 1682671 1711508 - 6480464;6907045 11594753;17353931;14704851;17855339;16710414;16189514;16169070;15489334;14702039;12477932;9110174;8619474;15146197;16341674;20379614;16751776;15161933;15324660;21526340;21890473;18624398 65220 J3KSP9;J3KTI3;J3QR86;J3QRC0;O95544;Q5QPS5;Q6PJ22 ABBA01016067;ABBA01016068;ABBA01016069;ABBA01016070;AF070630;AF250320;AK023114;AK095043;AK290161;AK291599;AK291728;AK296722;AK307645;AL031282;AMYH01000158;AY090771;BC001709;BC022063;BC024219;BM842058;BX647173;CH471183;CN349189;NM_001198993;NM_001198994;NM_001198995;NM_023018 AAG44568;AAH01709;AAH24219;AAM01195;BAB14412;BAF82850;BAF84288;BAF84417;BAH12420;EAW56151;EAW56152;EAW56153;EAW56154;EAW56155;NP_001185922;NP_001185923;NP_001185924;NP_075394;O95544 Hs.654792;Hs.733075 1663298;1663300;1735968;1754011;2112390;2152862;2153826;2161159;2164035 A002A02;AL009806;D1S1956E;D1S3527;D1S3672;HSC10E022;RH41826;SHGC-132055;SHGC-74119 DKFZp686L22239;FLJ13052;FLJ37724;FLJ54695;FLJ77769;FLJ78247;FLJ78307;MGC1900;RP1-283E3.6;dJ283E3.1 NAD kinase;OTTHUMP00000001109;OTTHUMP00000001110;OTTHUMP00000001111;poly(P)/ATP NAD kinase APPROVED protein-coding ENSG00000008130 29831 16907 611616 VALIDATED 1606990 NAF1 nuclear assembly factor 1 ribonucleoprotein 4 4 4 q32.2 161380432 161420296 - 164269271 164307523 - 164047860 164088073 - 6480464 19095616;16618814;16601202;17135485;15302935;14702039;12477932;20797317;19615732;19896111;20010695;22939629;22863883;18029348;21139048;21693764;21906983;22952844 92345 D6RIB3;Q96HR8 ABBA01070268;AC022272;AK097352;AK308601;AMYH01014664;BC008207;CH471056;NM_001128931;NM_138386 AAH08207;EAX04843;EAX04844;NP_001122403;NP_612395;Q96HR8 Hs.129095 1706260;1849802;2116047;2149268;5016478;5037552 D8S2279;GDB:434012;SHGC-24075;SHGC-59340;SHGC-80676;SHGC-8541 H/ACA ribonucleoprotein complex non-core subunit NAF1;OTTHUMP00000220110;OTTHUMP00000220131;hNAF1;nuclear assembly factor 1 homolog APPROVED protein-coding ENSG00000145414 25126 10054 VALIDATED 1314403 NAGA N-acetylgalactosaminidase, alpha- NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008] 22 22 q11 40784331 40796719 - 42454338 42466846 - 1600557;1600558;1580863;6480464;6907045;7240710 2243144;8040340 10704524;2174888;17171432;15619430;15489334;15461802;12477932;12062184;11251574;10591208;10360181;9252785;8782044;8071745;7707696;2551294;2372288;2256909;2122119;1646157;19394758;19683538;19853240;9741689;20444686;21832049;21906983;22268729 4668 P17050 ABBA01055661;AMYH01012809;BC000095;BE734247;CB988165;CH471095;CR456527;M29276;M38083;M59199;M62783;NG_009247;NM_000262;Z99716 AAA36351;AAA51677;AAA59902;AAB06718;AAH00095;ABM82800;ABM85988;CAG30413;CAK54558;CAK54857;EAW60484;EAW60485;EAW60486;NP_000253;P17050 Hs.75372 1690644;1743133;1769776;2133327;2139671;2151529;2219968;5022578;5091309 D1S1423;D22S1029;D22S1041;D22S1240;GDB:270295;NAGA__6207;RH17702;RH27832;WI-7665 D22S674;GALB Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B);OTTHUMP00000199655;OTTHUMP00000199656;OTTHUMP00000199657;alpha-N-acetylgalactosaminidase;alpha-galactosidase B APPROVED protein-coding ENSG00000198951 7631 00076 104170;609241;609242 REVIEWED 1602697 NADSYN1 NAD synthetase 1 Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004] 11 11 11 q13.4 68457742 68506114 + 70841865 70890232 + 71164217 71212584 + 6480464;6907045 20541252;12547821;15231747;16189514;15489334;14702039;12477932;10737800;8125298;14704851;19724895;19851296;20198315;20418485;16712791;19913121;20628086;21139048;21890473;22390397;21963094;22785457;23000965;22505724;22797925 55191 B3KUU4;E9PKY6;E9PND0;E9PNF5;H0YCF9;H0YCQ6;H0YCS1;H0YDH3;H0YED2;Q6IA69 AB091316;ABBA01017551;AK001493;AK022436;AK094022;AK097946;AK225700;AL512694;AMYH01003786;AP000867;AP002387;AW804480;BC003638;BC003666;BC020977;BE730392;BI460954;BM554316;CB141878;CH471076;CR457286;NM_018161 AAH03638;AAH03666;BAA91722;BAB14034;BAC65148;BAG53556;CAG33567;EAW74792;EAW74793;NP_060631;Q6IA69 Hs.556986 1667071;1705492 RH71154;SHGC-83836 FLJ10631;FLJ36703;FLJ40627 NAD(+) synthase;NAD(+) synthetase;OTTHUMP00000235817;glutamine-dependent NAD synthetase;glutamine-dependent NAD(+) synthetase APPROVED protein-coding ENSG00000172890 29832 16309 608285 VALIDATED 6770755 NAGPA-AS1 NAGPA antisense RNA 1 16 5083703 5092972 + 14702039 100507589 ABBA01026798;AC026458;AK055222;AMYH01007110;NR_038913 Hs.729936 1698816;2168594;5022651 D11S2921;D16S3329;RH102972 APPROVED miscrna 44184 VALIDATED 733941 NAE1 NEDD8 activating enzyme E1 subunit 1 The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q22 65394282 65422380 - 66836781 66864879 - 734592;1300048;1580863;634557;6480464;6907045 8626687;12646924 12740388;10722740;12694406;14557245;15361859;10207026;18627766;16620772;16503656;16400609;16341674;15489334;14702039;14690597;12477932;11230166;10597293;10493829;16169070;17353931;18652489;21145461;9694792;19615732;19795456;22863883;21151996;22939629;18274552;21963094;21988832;23000965;23185368;17220875;18264111;21139048;21890473;21906983;22182960;22505724 8883 A6NCK0;A8MU28;H3BMN8;H3BMR3;H3BQ16;H3BQW6;H3BS69;H3BSS8;J3KRK3;J3KTE3;J3QLH4;J3QRA5;Q13564 ABBA01025417;ABBA01025418;AC004638;AC044802;AK097680;AK298159;AK307677;AK312784;AL136798;AMYH01007742;AY197612;BC000480;BC013301;BC041323;BM045535;BM785899;CH471092;NM_001018159;NM_001018160;NM_003905;U50939 AAC23784;AAC50477;AAH00480;AAH13301;AAP35030;ABM83667;ABM86913;BAG35647;BAG53511;BAH12735;CAB66732;EAW83042;EAW83043;NP_001018169;NP_001018170;NP_003896;Q13564 Hs.460978 1664357;1678747 Cda01h11;RH65010 A-116A10.1;APPBP1;HPP1;ula-1 APP-BP1;NEDD8-activating enzyme E1 regulatory subunit;NEDD8-activating enzyme E1 subunit;OTTHUMP00000174807;OTTHUMP00000174808;amyloid beta precursor protein binding protein 1, 59kDa;amyloid beta precursor protein-binding protein 1, 59 kDa;amyloid beta precursor protein-binding protein 1, 59kD;amyloid protein-binding protein 1;app-binding protein 1;proto-oncogene protein 1;protooncogene protein 1 APPROVED protein-coding ENSG00000159593 621 04545 603385 REVIEWED 1351904 NAGLU N-acetylglucosaminidase, alpha This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008] 17 17 q21 37941477 37949993 + 40687951 40696467 + 1580863;6480464;7240710;7241018;7241012;7241013;7241016;7241007 11668611;4261742;10588735;11136549;10094189 8650226;18218046;15933803;15489334;14671302;12709672;12477932;12202988;11793481;11237686;11068184;10857861;10833408;9950362;9443878;8776591;8703123;6781343;1783617;20138557;20585324;22102531;21963094;21890473;21906983;22935351;22268729 4669 K7END1;K7ENX5;K7EQH9;K7ESD7;P54802 ABBA01006421;ABBA01006422;AC067852;AI299657;AMYH01008395;AY401970;BC053991;BF435029;BQ012843;CH471152;L78464;L78465;NG_011552;NM_000263;U40846;U43572;U43573 AAB06188;AAB36604;AAB36605;AAC50512;AAC50513;AAH53991;EAW60832;EAW60833;NP_000254;P54802 Hs.50727 1770313;1791562 PMC115182P5;RH18065 MPS-IIIB;MPS3B;NAG;UFHSD N-acetyl-alpha-glucosaminidase;alpha-N-acetylglucosaminidase APPROVED protein-coding ENSG00000108784 7632 02017 252920;609701 REVIEWED 6484624 NALCN-AS1 NALCN antisense RNA 1 13 q33.1 101360579 101711638 + 20889312 100885778 ABBA01027083;ABBA01027084;ABBA01027085;AK025806;AL137879;AL138707;AL139374;AL356732;AL359085;AL391841;AMYH01005336;AMYH01005337;NR_047687 Hs.602949 APPROVED miscrna ENSG00000233009 42743 VALIDATED 1312859 NAGK N-acetylglucosamine kinase This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011] 2 2 2 p13.3 71146088 71156678 + 71148955 71159279 + 71295408 71305998 + 1580863;6480464;6907045 15231747;16189514;10824116;17010375;16344560;15987957;15815621;15489334;14702039;12665801;12477932;12112843;9468341;8982040;8125298;11741987;22507750;15231748;22863883;21900206;21139048 55577 C9JEV6;C9JMR7;E9PPU6;H0YC94;H0YE82;H0YEB7;H0YF44;H7C1L7;H7C286;H7C3G9;Q9UJ70 AA641666;ABBA01075547;AC007881;AJ242910;AK001812;AK092876;AK097223;AK172854;AK222645;AK297224;AL832837;AMYH01010426;BC001029;BC005371;BC131781;BU599058;CH471053;CR457271;DB117133;NM_017567 AAH01029;AAH05371;AAY14748;ABM83600;ABM86842;BAA91923;BAD18815;BAD96365;BAG59707;CAB61848;CAG33552;EAW99780;NP_060037;Q9UJ70 Hs.7036 1676970;1693762;1756853;1854269;2147518;2147520;2161271;2190999;2191495;5037552 A006G04;D8S2279;G20779;MARC_12813-12814:999878148:1;MARC_24073-24074:1030028833:1;RH12380;RH47510;RH94004;SHGC-144012;SHGC-58833 GNK;HSA242910 N-acetyl-D-glucosamine kinase;OTTHUMP00000203497;OTTHUMP00000205285;OTTHUMP00000205286;glcNAc kinase APPROVED protein-coding ENSG00000124357 17174 08441 606828 VALIDATED 5478866 NAMA non-protein coding RNA, associated with MAP kinase pathway and growth arrest 9 q22.33 102117622 102138064 - 17415708 100996569 ABBA01042902;AL137067;AMYH01021565;DQ673922;DQ673923;DQ673924;DQ673925;DQ673926;DQ673929;DQ673930;DQ673933;DQ673934;DQ673936;DQ673950;DQ673958;DQ673963;DQ673965;NR_102270;NR_102271;XR_158850;XR_158851;XR_158852;XR_158853;XR_159525;XR_159526;XR_159527;XR_159528;XR_171803 Hs.308802 non-protein coding RNA, associated with MAP kinase pathway and growth arrest miscrna 42408 VALIDATED 1345300 NAMPTL nicotinamide phosphoribosyltransferase-like 10 10 10 p11.21 36576870 36579370 - 36850655 36853168 - 36810664 36813164 - 737633 12477932 8289818 646309 F5H246;Q5SYT8 ABBA01033319;ABBA01033320;AL590730;AMYH01002246;NG_005593 PBEF2;RP11-92J19.4;bA92J19.4 APPROVED pseudo 17633 INFERRED 1349230 NAMSD neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) 7240710 4672 7635 310490 1348051 NAIF1 nuclear apoptosis inducing factor 1 9 9 9 q34.11 101475536 101481621 - 129863341 129869212 - 130823512 130829599 - 737633;6480464 12477932 14702039;16378748;18339812;16344560;15489334;15164053;203245;21286669;20133760;21044950 203245 Q69YI7 ABBA01043863;ABBA01043864;AI864878;AK122729;AL360268;AL833392;AMYH01021739;BC013371;BC021580;BC047160;CH471090;DA661395;NM_197956 AAH21580;BAG53693;CAH10588;EAW87735;EAW87736;EAW87737;NP_931045;Q69YI7 Hs.373606;Hs.740682 1684794;2141147;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;RH94342;SHGC-57003 C9orf90;DKFZp762G199;RP11-379C10.2;bA379C10.2 OTTHUMP00000022227;nuclear apoptosis-inducing factor 1 protein-coding ENSG00000171169 25446 12987 610673 VALIDATED 1343112 NAIP NLR family, apoptosis inhibitory protein This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q13.2 70300066 70356697 - 70264310 70320941 - 1580863;6480464;6907045 8552191;7813013;19287802;19198020;18974562;18842367;18759060;18566024;18533950;18453601;18339188;18071605;17932457;17923748;17903057;17510375;17222062;15372022;15340105;15280366;12477932;12445469;12127562;11955612;11912351;10544044;10369862;9503025;7552146;10899114;15107016;11865055;17613533;19488400;19923725;20044205;20171302;21371431;23012363;21821450;11896143;18414036;22067212;14685266 4671 B7ZLE8;E5RJA3;E7EQW0;H0YAX2;Q13075 AB048533;AB048534;AB209123;ABBA01017580;ABBA01162699;ABBA01215535;AC005031;AC044797;AC138827;AC139494;AC142525;AK124511;AK295115;AK309627;AK311046;AMYH01015400;BC136273;BC143761;CH878390;NG_008724;NM_004536;NM_022892;U19251;U80017;XM_003403387;XM_003403388;XM_003403389;XM_003846791 AAC52045;AAC52047;AAC62261;AAI36274;AAI43762;BAB87181;BAD92360;BAG58144;EAW50510;NP_004527;NP_075043;Q13075;XP_003403435;XP_003403436;XP_003403437;XP_003846839 Hs.654500;Hs.710305 1729057;1729583;1785644;2112768;5014740;5037690;5115530 Birc1-rs1;D17S610;D5S266;D5S2799E;D5S2800E;SHGC-171452;SHGC-32267 BIRC1;FLJ18088;FLJ42520;FLJ58811;NLRB1;psiNAIP NLR family, BIR domain containing 1;OTTHUMP00000226926;OTTHUMP00000226927;OTTHUMP00000226928;baculoviral IAP repeat-containing protein 1;neuronal apoptosis inhibitory protein;nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1;psi neuronal apoptosis inhibitory protein APPROVED protein-coding ENSG00000249437 7634 600355 REVIEWED 5684568 NANOGNBP1 NANOGNB pseudogene 1 2 q11.2 101274340 101277406 + 100859926 ABBA01073925;AC092845;AMYH01010810;NG_031948 pseudo 42158 INFERRED 6770074 NANOGNBP3 NANOGNB pseudogene 3 X 100592300 100593195 - 100652831 ABBA01044973;AL035422;AMYH01022725;NG_032794 pseudo 42160 INFERRED 1319056 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network. [provided by RefSeq, Jul 2008] 16 16 p13.3 5014846 5023937 - 5074845 5083942 - 1580863;6480464 10551838;15976452;15489334;14702039;12477932;12058031;11723124;11408573;9110174;8922957;8619474;7786023;16344560;20147709;9722550;21956109;22884963 51172 K7EJ25;K7EK96;K7EL75;K7EPH3;K7ERI4;Q9UK23 ABBA01026798;AC026458;AF052111;AF187072;AK025570;AK026122;AK092889;AK127952;AK302916;AK314320;AMYH01007110;BC012194;CH471112;DA879815;NG_028152;NM_016256 AAF08273;AAH12194;BAG36968;BAG54605;BAG64081;EAW85245;EAW85246;NP_057340;Q9UK23 Hs.21334 1680146;1690876;5016781 RH64906;RH80883;SHGC-67307 APAA;UCE N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase;OTTHUMP00000115598;alpha-N-acetylglucosaminyl phosphodiesterase;lysosomal alpha-N-acetylglucosaminidase;mannose 6-phosphate-uncovering enzyme;phosphodiester alpha-GlcNAcase APPROVED protein-coding ENSG00000103174 17378 12145 607985 REVIEWED 1342719 NANOGP10 Nanog homeobox pseudogene 10 X X X p11.3 47409685 47411388 - 43151219 43153034 - 43266291 43267995 - 15233988;15108323 349372 ABBA01046482;AL023574;AMYH01022239;AY455280;NG_004096 NANOGP5 pseudo 23108 INFERRED 1604902 NANOGP11 Nanog homeobox pseudogene 11 6 6 6 q25 153601454 153601854 + 152909342 152909942 + 152867750 152868150 + 15233988 414135 ABBA01025618;AL589963;AMYH01016746;NG_004103;NG_012855 pseudo 32941 INFERRED 1346849 NANOGP2 Nanog homeobox pseudogene 2 2 2 2 q36 217085097 217086403 - 223024980 223026463 - 223316899 223318205 - 1323844 15108323 15233988;414131 414131 ABBA01023814;AC097461;AMYH01011516;AY455279;NG_004099 NANOGP4 pseudo 23100 INFERRED 1342922 NANOGP3 Nanog homeobox pseudogene 3 6 6 6 p12.1 54945421 54946109 - 53391125 53392013 - 53283266 53283954 - 15233988 340217 ABBA01050535;AL591034;AMYH01016360;NG_004095 pseudo 23101 INFERRED 1352067 NANOGP4 Nanog homeobox pseudogene 4 7 7 7 p15 29241256 29243030 + 29218246 29220045 + 29251729 29253503 + 1323844 15108323 15233988 414132 AACC02000007;ABBA01056795;AC004593;AMYH01017140;AY455277;CH236948;NG_004100;NG_029365 NANOGP2 pseudo 23102 INFERRED 1344781 NANOGP5 Nanog homeobox pseudogene 5 9 9 9 q31 73450674 73452671 + 101977002 101979185 + 102937281 102939278 + 15233988 414133 ABBA01042891;AL137072;AMYH01021571;NG_004101;NG_008316 pseudo 23103 VALIDATED 1604903 NANOGP6 Nanog homeobox pseudogene 6 10 10 10 q24 95285573 95286513 - 101538121 101539261 - 101548231 101549171 - 15233988 414134 ABBA01063243;AL133353;AMYH01002992;NG_004102;NG_011798 pseudo 23104 INFERRED 1350164 NANOGP7 Nanog homeobox pseudogene 7 14 14 14 q32 72119154 72120435 - 91140015 91141579 - 92070529 92071810 - 1323844 15108323 15233988 414130 ABBA01030474;AL133373;AMYH01005954;AY455278;NG_004098 NANOGP3 pseudo 23105 INFERRED 1349520 NAGS N-acetylglutamate synthase The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008] 17 17 q21.31 39437558 39441962 + 42082032 42086436 + 1600560;1580863;6480464;6907045;7240710 12594532 12459178;17703373;17510757;17421020;16321554;15878741;15714518;15050968;14702039;12754705;12477932;12447942;12049647;19913121;20628086;20877624;20303810;16169070;19533169;22383952 162417 K7EK11;Q8N159 ABBA01028392;AC023855;AI241153;AK074407;AK091938;AK300923;AK314432;AMYH01008410;AY116537;AY116538;AY158070;BC111713;BF589712;CH471178;NG_008106;NG_023338;NM_153006 AAI11714;AAM75385;AAM75386;AAN76451;BAG37046;BAG62555;EAW51643;NP_694551;Q8N159 Hs.8876 1688787 RH75045 AGAS;ARGA;MGC133025 N-acetylglutamate synthase, mitochondrial;amino-acid acetyltransferase APPROVED protein-coding ENSG00000161653 17996 10510 237310;608300 REVIEWED 1343493 NANOGP9 Nanog homeobox pseudogene 9 X X X q12 65338748 65340817 - 64908883 64910395 - 64991605 64993674 - 15233988;15108323 349386 ABBA01067046;AL591595;AMYH01022504;AY455281;NG_004097 NANOGP6 pseudo 23107 INFERRED 1317831 NANOS1 nanos homolog 1 (Drosophila) 10 10 10 q26.11 114519831 114524459 + 120779218 120783844 + 120789228 120793854 + 1580863;6480464 12690449;19168546;18223680;17047063;16573738;15164054;10862698;21800163 340719 Q5T9H5;Q8WY41 ABBA01062921;AF086393;AF275269;AF458985;AI276145;AL157788;AMYH01003108;CH471066;NM_199461 AAI56180;AAL36982;AAQ04765;EAW49409;NP_955631;Q8WY41 Hs.591918 1654222;1656027;2131987;2177042;5015619;5037552;5492995 Bdy77b02;D11S3114;D8S2279;RH46989;SHGC-36770;SHGC-57913;UniSTS:483572 NOS1 EC_Rep1a;NOS-1;OTTHUMP00000020587;OTTHUMP00000046853;nanos homolog 1 protein-coding ENSG00000188613 23044 16302 608226 VALIDATED 1349441 NANOGP1 Nanog homeobox pseudogene 1 12 12 12 p13 9606714 9629492 + 7920138 7942932 + 8028871 8051665 + 1323844;1580863 15108323 16469101;15233988;14702039;20427424;22851508 404635 E9PLE6;E9PNZ7;E9PQ94;Q8N7R0 ABBA01012219;ABBA01012220;AC007536;AC124891;AK097770;AMYH01004220;AMYH01004221;AY455283;NG_006522 AAS57555;BAC05167;Q8N7R0 Hs.635882 1784446 SHGC-154853 NANOG2 pseudo 23099 INFERRED 733715 NALCN sodium leak channel, non-selective NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008] 13 13 13 q32.3 82551415 82911536 - 100504131 100866814 - 101706130 102068813 - 1580863;6480464 19308021;17448995;16344560;14702039;12498692;12477932;12364586;11991713;22628157;20674038;19535918;19575010;20379614;20889312;23144319 259232 B3KMK1;F2Z323;Q8IZF0 ABBA01027082;ABBA01027083;AE014293;AF339780;AK002089;AK055506;AK094390;AK094669;AK126621;AK126718;AK172752;AL138707;AL354891;AL356778;AMYH01005337;AY141972;BC012128;BC028390;BC064343;CH471085;DA128114;NM_052867 AAH28390;AAH64343;AAN10255;AAN16023;ADZ15478;BAD18738;BAG51013;BAG51529;BAG52908;BAG54350;BAG54365;EAX09045;EAX09046;EAX09047;EAX09048;EAX09049;EAX09050;NP_443099;Q8IZF0 Hs.525146 1339614;1682926;1707888;1713725;1715177;1730065;1751465;1754847;1777403;2110871;2111732;2184886;2190113;2190117;2190159;2190161;2190163;2190167;2190169;2190171;2190173;2190175;2190183;2190217;7184666 99-62611;99-62626;99-79306;99-79310;99-79311;99-79313;99-79316;99-79322;99-79336;99-79338;99-79396;99-79431;D13S1282;D13S147;D13S1632;D13S224E;RH119839;RH120745;RH28455;RH48423;SHGC-105265;SHGC-141771;SHGC-82188;STS-N40916 CanIon;FLJ23913;FLJ44659;FLJ44764;MGC74524;VGCNL1;bA430M15.1 OTTHUMP00000018654;four repeat voltage-gated ion channel;sodium leak channel non-selective protein;voltage gated channel like 1;voltage gated channel-like protein 1 APPROVED protein-coding ENSG00000102452 19082 15647 611549 VALIDATED 2881521 NANOGNB NANOG neighbor homeobox 12 12 12 p13.31 9495913 9504806 + 7809149 7817714 + 7917812 7926717 + 12477932 360030 Q7Z5D8 ABBA01012211;AC006517;AMYH01004218;AMYH01004219;AY151139;NM_001145465 AAP76323;NP_001138937;Q7Z5D8 Hs.558004 1666366 G17627 NANOG neighbor homeobox;OTTHUMP00000228427;homeobox C14;homeobox protein C14 APPROVED protein-coding ENSG00000205857 24958 PROVISIONAL 1347686 NANOG Nanog homeobox 12 12 p13.31 7833262 7839922 + 7941995 7948655 + 6480464 22482508;16153702;16501172;15108323;19415763;19350681;19279133;19229867;19139263;18957414;18946985;18772339;18682241;18593985;18441325;18439155;18419830;18393632;18388306;18199879;18187129;18086680;18039466;17506876;17314394;17211451;17196939;16923129;16540082;18932205;21336986;22677041;22252524;16391521;16000880;15983365;15982323;15749924;15615706;15582778;15233988;14990856;14702039;12927049;12787505;12787504;12787492;20510497;20581802;20581804;20662612;20622153;20539761;12477932;19102659;19427902;19458492;19483629;19522013;19567677;19633292;19639208;19751112;19834952;19933152;20071344;20103622;20173672;20427424;20458727;19036726;19060217;20211142;20698766;20930529;21266826;21062744;23213213;23093782;21631526;21726833;22714588;22914767;20879854;21689639;21464727;21246261;21362572;21573506;21559406;21559451;21720384;23424657;21136380;21628563;21499299;21911602;21810410;18757296;21235326;21299413;21852325;21685938;21969378;22743827;22777760;22901285;23226362;22576926;22927443;22143343;22337995;21227461;21987446;22079639;22014056;22339500;22381696;22340650;22388813;22493428;22516749;22378194;22795133;22686476;23438436;23095773;23064289;23221432;23541921;23427894;22683467;22847005;22963770;22562535;23307247;23349823 79923 E9PL07;F5GZI2;Q9H9S0 AB093576;ABBA01012211;AC006517;AK022643;AK290896;AMYH01004219;AY230262;AY578089;BC069807;BC098275;BC099704;CH471116;CQ860374;NM_024865 AAI60187;AAP49529;AAT81526;ABZ92376;BAB14151;BAC76999;BAF83585;CAH25962;EAW88649;EAW88650;EAW88651;NP_079141;Q9H9S0 Hs.635882 1298310;1660838;1783270;5014051;5022200;5037552;5493051 D15S971;D8S2278;D8S2279;L18426;SHGC-156015;STS-M96982;UniSTS:484047 OTTHUMP00000231725;OTTHUMP00000231727;OTTHUMP00000238800;hNanog;homeobox protein NANOG;homeobox transcription factor Nanog;homeobox transcription factor Nanog-delta 48 protein-coding ENSG00000111704 20857 06397 607937 VALIDATED 1351636 NAMPT nicotinamide phosphoribosyltransferase This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011] 7 7 q22.3 105675967 105712874 - 105888731 105925638 - 737633;1580863;1642336;1642337;1642340;1642345;1642341;2311119;2311099;6480464;6907045 12477932;17618961;17556870;17283255;15922301;17582143;16234302;18410550 20817637;18241953;22137121;22147201;22399297;21406189;8289818;19513556;19408173;19402217;19302375;19300429;19185944;19166999;19100714;19095760;19074645;19009499;19005759;18996492;18957417;18940394;18823127;18787378;18728403;18714344;18691043;18686225;18660489;18486613;18363885;18356846;18272217;18270432;18252866;18248642;22024288;20951014;21777266;22767598;21145461;22672864;21296365;22467327;22570471;18239648;18083357;18034779;17984105;17952840;17931620;17904242;17889652;17512309;17429683;17408594;17392604;17340225;17335820;17334748;17327330;17307730;17284735;17261426;17237424;17189536;17177135;17090638;17003359;17003355;16956691;16922702;16868228;16828081;16814166;16802343;16783377;16736128;16735449;16733497;16720654;16718635;16701870;16636125;16531748;16496121;16489932;16449335;16414972;16394088;16188281;16186392;16021090;15947248;15815727;15592455;15489334;15124023;14704851;14702039;12853948;12782293;12690205;12555668;9847074;1702972;14499622;19887595;19913121;20608974;20628086;20470278;20470283;19073361;19093738;19099366;19111298;19200966;19222486;19284295;19389865;19403191;19488934;19498324;19533482;19571557;19572235;19654329;19666527;19727662;19751774;19765775;19804767;19811274;19819277;19819904;19834878;19855187;19912992;19929281;19936064;19948877;20019453;20046156;20085562;20237496;20346233;20346239;20358348;20383745;20451405;17983582;19650786;20091460;20392873;21375196;20059442;21061834;19583971;20712903;20720266;20885390;20606733;20621376;17207965;20482384;20598369;20724478;11241162;20506278;20823688;19900033;20409603;20562859;20121389;20605615;22272940;20848232;21145308;20850423;21492230;20956937;21298414;21666788;20486883;21144000;21518975;21122936;21225497;21332548;21484571;21375135;22313145;22541073;20220292;22863883;22935190;22971561;20106640;21524918;21517777;23304061;23435312;20586547;21542902;23153509;23463506;21327328;21677044;21687707;23090276;22726553;21694775;21906432;21697093;22425808;21664630;19087564;21712732;21726671;22251423;22319029;21631570;21839801;21939650;21246369;22955917;21139048;21890473;21906983;21500554;22090280;22151390;22228719;22293189;21840905;22186408;21738955;22380724;22490590;21625240;22261365;22430142;21494798;22167446;22397743;21975728;22704488;23174347;22960047;23289013;23137677;23327785;21963094;21988832;23093105;23151382;22585407;22768255;23262103;21634360;22377803 10135 C9JF35;C9JG65;P43490 AACC02000004;ABBA01057929;ABBA01057930;AC007032;AI299587;AK023341;AK292851;AK304085;AL832518;AMYH01017824;AMYH01017825;BC020691;BC072439;BC106046;BI859562;CH236947;CH471070;CS463832;CS545604;FB775574;HD117879;HH762803;L29050;NM_005746;U02020 AAA17884;AAF19249;AAH72439;AAI06047;AAQ96862;ADQ32034;BAF85540;BAH14102;CAH56351;CAM12699;CAN36300;CAV30744;CBX74360;CBX78820;EAL24399;EAL24400;EAW83382;EAW83383;EAW83384;NP_005737;P43490 Hs.489615 1682435;1856555;2160445;2165678;2165680;2170989 A002U17;D7S2650;RH16541;RH36790;SHGC-33252;SHGC-33423 1110035O14Rik;DKFZp666B131;MGC117256;PBEF;PBEF1;VF;VISFATIN NAmPRTase;OTTHUMP00000179149;OTTHUMP00000179150;nicotinamide phosphoribosyltransferase;pre-B cell-enhancing factor;pre-B-cell colony enhancing factor 1;pre-B-cell colony-enhancing factor 1 APPROVED protein-coding ENSG00000105835 30092 09938 608764 REVIEWED 3255047 NAP1L1P1 nucleosome assembly protein 1-like 1 pseudogene 1 11 11 11 q24.2 123102727 123103787 + 125442648 125443723 + 125937435 125938495 + 729561 ABBA01031229;AMYH01004110;AP000821;NG_021838 1340522;1675411;1709316;1709420 D11S1896;RH92885;SHGC-81646;SHGC-81744 pseudo 38004 INFERRED 3398787 NAP1L1P2 nucleosome assembly protein 1-like 1 pseudogene 2 Y Y Y p11.31 88986955 88987948 - 2857042 2863480 - 2797411 2798404 - 100128894 ABBA01069763;AC006157;NG_021905 2188061 G66036 pseudo 38005 INFERRED 3051039 NAP1L1P3 nucleosome assembly protein 1-like 1 pseudogene 3 3 3 3 q13.33 118934465 118935341 + 122001317 122008282 + 120524713 120525589 + 100130335 ABBA01016492;AC117472;AMYH01013424;NG_022267 pseudo 38007 INFERRED 1315421 NANOS3 nanos homolog 3 (Drosophila) 19 19 19 p13.13 13881695 13885316 + 13848950 13852571 + 13988063 13991571 + 6480464 17418157;15057824;12947200;12477932;8889548;21421998;19565640 342977 P60323 ABBA01029709;AC020916;AMYH01009516;BC101209;BC101210;BI793167;CK821051;CK821052;DN993610;NM_001098622 AAI01210;AAI01211;NP_001092092;P60323 Hs.127982 2107427 NANOS3__7322 MGC120114;NANOS1L;NOS3 NOS-3;nanos homolog 3 protein-coding 22048 608229 VALIDATED 1604926 NANOGP8 Nanog homeobox pseudogene 8 This locus is a processed pseudogene of the transcription factor NANOG. NANOG plays a central role in regulating self-renewal in pluripotent stem cells and tumor cells. This pseudogene contains an intact open reading frame that could potentially encode a protein similar to NANOG. Although there is no evidence of transcription from this pseudogene, RT-PCR studies suggest that NANOGP8 may be expressed in some cancer cell lines. In vitro studies using a recombinant NANOGP8 protein have shown that the protein localizes to the nucleus and can promote cell proliferation, similar to NANOG. [provided by RefSeq, Sep 2009] 15 15 15 q14 12134710 12136791 - 33162678 33164817 - 35375427 35377509 - 16623708;15489334;15233988;15108323;12477932;19415763;20581802;21136380;22079639 388112 Q6NSW7 ABBA01038508;AC021231;AMYH01006542;AY455284;NG_004093 Q6NSW7 1783270 SHGC-156015 MGC119250;NANOG;NANOGP1;PN8 APPROVED pseudo 23106 REVIEWED 1354099 NANOS2 nanos homolog 2 (Drosophila) 19 19 19 q13.32 43221499 43223063 - 51108312 51109876 - 46416472 46418036 - 19168545;15489334;14615895;12947200;12690449;12477932 339345 P60321 ABBA01040957;AC008623;AMYH01009856;BC042883;BC117484;BC117486;NM_001029861 AAH42883;AAI17485;AAI17487;ADR82819;NP_001025032;P60321 Hs.434218 2219976;5493699 NANOS2__6213;UniSTS:490370 NOS2 NOS-2;nanos homolog 2 protein-coding ENSG00000188425 23292 18784 608228 VALIDATED 5129396 NAP1L4P1 nucleosome assembly protein 1-like 4 pseudogene 1 1 1 1 p13.1 115302876 115305231 - 116876630 116878244 - 117074378 117076733 - 728589 ABBA01068487;AL355794;AL390066;AMYH01000969;NG_006955 1677879;1692004;1752733;1791772 AL033745;PMC124986P3;RH78061;SHGC-106572 pseudo 39740 INFERRED 6481031 NAP1L4P2 nucleosome assembly protein 1-like 4 pseudogene 2 X 105710010 105710596 - 100874319 ABBA01035784;AL590306;AMYH01022824;NG_032355 pseudo 39739 INFERRED 5129395 NAP1L4P3 nucleosome assembly protein 1-like 4 pseudogene 3 13 13 13 q14.2 29392558 29393571 + 47235596 47355417 + 48337694 48338707 + 730174 ABBA01050999;AL138959;AMYH01005099;NG_021968 1721253;1723883;1901854 G59623;REN21728;RH119471 pseudo 39738 INFERRED 1345004 NANP N-acetylneuraminic acid phosphatase 20 20 20 p11.1 25667188 25678265 - 25543001 25552614 - 25593571 25604648 - 1580863;6480464;6907045 16237198;16344560;15489334;14702039;12477932;11780052;8889548;17207965 140838 Q8TBE9 ABBA01048714;AI693731;AK055472;AK074335;AL031673;AL833116;AMYH01011789;BC003415;BC022552;CF126993;CH471133;DA858639;NM_152667 AAH22552;ACE86671;ACE87355;ADQ31846;BAB85055;BAG51524;EAX10081;NP_689880;Q8TBE9 Hs.143137;Hs.606268 C20orf147;HDHD4;MGC26833;dJ694B14.3 N-acylneuraminate-9-phosphatase;Neu5Ac-9-Pase;OTTHUMP00000030503;haloacid dehalogenase-like hydrolase domain containing 4;haloacid dehalogenase-like hydrolase domain-containing protein 4 protein-coding ENSG00000170191 16140 17097 610763 VALIDATED 1323660 NANS N-acetylneuraminic acid synthase This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008] 9 9 9 p24.1-p23 71333236 71359642 + 99858842 99885178 + 100818959 100845365 + 1580863;6480464;6907045 10749855;16597820;16274664;15489334;15164053;14702039;12477932;10873658;693772;20562859;20800603;22863883;22939629;21139048;21906983 54187 Q5TBR0;Q5TBR1;Q9NR45 ABBA01042919;AF161387;AF257466;AK001659;AK091184;AK316608;AL137073;AL526281;AMYH01021560;BC000008;BC019315;BQ446501;CH471105;NM_018946 AAF28947;AAF75261;AAH00008;AAH19315;ABM83093;ABM86287;BAA91818;BAG38195;EAW58866;EAW58867;EAW58868;EAW58869;NP_061819;Q9NR45 Hs.522310;Hs.665191 1758601;2123858;2171123;5022651;5024039 A008O24;D11S2921;D16S325;SHGC-148909;STS-N37069 SAS N-acetylneuraminate synthase;N-acetylneuraminate-9-phosphate synthase;N-acetylneuraminic acid phosphate synthase;OTTHUMP00000021769;sialic acid phosphate synthase;sialic acid synthase APPROVED protein-coding ENSG00000095380 19237 07285 605202 REVIEWED 1343656 NAP1L3 nucleosome assembly protein 1-like 3 This gene is intronless and encodes a member of the nucleosome assembly protein (NAP) family. This gene is linked closely to a region of genes responsible for several X-linked mental retardation syndromes. [provided by RefSeq, Dec 2010] X X X q21.3-q22 93451177 93453856 - 92812585 92815264 - 92925925 92928682 - 724394;1580863;6480464 8976385 15772651;14702039;12477932;9417904;8125298;16344560 4675 Q8IYV1;Q99457 AA463251;ABBA01064913;AK090772;AK095682;AK223621;AK315176;AL009173;AL119710;AMYH01022689;BC034954;BC094729;CH471115;D50370;DA294849;DA486883;NG_013275;NG_016400;NM_004538;U92991 AAH34954;ABM81729;ABM84884;BAA08904;BAD97341;BAG37617;BAG52225;BAG53108;EAX02782;NP_004529;Q99457 Hs.21365;Hs.732006 2108295;2179122;5095070 NAP1L3;NAP1L3_8494;RH15926 MB20;MGC26312;NPL3 OTTHUMP00000023645;nucleosome assembly protein 1-like 3 APPROVED protein-coding ENSG00000186310 7639 02123 300117 REVIEWED 2305802 NAP1L6 nucleosome assembly protein 1-like 6 X X X q13.2 72629394 72631440 - 72262601 72264644 - 72345876 72347919 - 15772651;14702039 645996 A6NFF2 ABBA01059709;AC004389;AK090915;AL662864;AMYH01022610;NG_021429;NR_027291 A6NFF2 Hs.617486 1702358;1702868;2142916;5015619;5037552 D11S3114;D8S2279;L77274;UniSTS:99285;UniSTS:99626 FLJ33596 pseudo ENSG00000204118 31706 VALIDATED 6766390 NAPA-AS1 NAPA antisense RNA 1 19 47987539 48004854 + 100505681 ABBA01041040;AC073548;AK057858;AMYH01009885;BG035979;NR_038452 Hs.657320 1778781;1856436;2131747;5022576 D1S1361;RH11568;RH15934;STS-R61534 APPROVED miscrna ENSG00000268061 44118 VALIDATED 1345486 NAP1L2 nucleosome assembly protein 1-like 2 The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011] X X X q13 72715677 72718207 - 72348879 72351409 - 72432135 72434710 - 1580863;6480464 21145461;8789438;15489334;12477932;10932189;12116227;20211142;8889548;21333655;20972266;21139048 4674 B4E161;Q9ULW6 AB027013;ABBA01059698;AC004074;AF136178;AK291297;AK303676;AK316569;AMYH01022610;BC026325;CB242638;CH471104;CR457095;NG_013274;NM_021963 AAH26325;AAP97268;BAA84706;BAF83986;BAG38158;BAG64673;CAG33376;EAW98670;NP_068798;Q9ULW6 Hs.66180;Hs.740565 1689498;1702904;1739813 DXS7041E;DXS7574E;RH94019 BPX;MGC26243 OTTHUMP00000023565;brain specific gene BPX;brain-specific protein, X-linked;nucleosome assembly protein 1-like 2 APPROVED protein-coding ENSG00000186462 7638 02066 300026 REVIEWED 1348887 NAP1L5 nucleosome assembly protein 1-like 5 4 4 4 q22.1 86913019 86914976 - 89836090 89838003 - 89617066 89619023 - 1580863;6480464 17353931;17291163;16344560;16189514;16169070;14702039;12477932;12383514;20622171;20098747;20936779;22863883 266812 Q96NT1 ABBA01063555;AC108065;AK054689;AL834329;AMYH01014387;BC022544;BC039416;BC104883;CH471057;DA041186;DB542768;NM_153757 AAI04884;BAB70793;CAD38997;EAX06025;NP_715638;Q96NT1 Hs.12554 1649435;1676674;1735402;1768501;2164869;5493599 1616;D4S2576E;D4S2809;RH12317;RH91176;UniSTS:488150 DRLM 1110020M21Rik;OTTHUMP00000161563;down-regulated in liver malignancy;nucleosome assembly protein 1-like 5 protein-coding ENSG00000177432 19968 17626 612203 VALIDATED 7241712 NAPGP1 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1 100288843 ABBA01021953;AL358532;AMYH01002933;NG_022185 1723459 RH118548 pseudo 45165 INFERRED 7241613 NAPGP2 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 2 100422429 ABBA01038067;AL663093;AL669830;AL773541;AMYH01016208;CR759747;CR759772;CT009610;NG_025807 pseudo 45166 INFERRED 737279 NAP1L1 nucleosome assembly protein 1-like 1 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing of this gene results in several transcript variants; however, not all have been fully described. [provided by RefSeq, Jul 2008] 12 12 12 q21.2 76105836 76145881 - 74726221 74764717 - 76438672 76478738 - 724386;1580863;6480464 8297347 11940655;17339334;17081983;17081065;16964243;16565220;16287874;15489334;15345747;15308774;14966293;14702039;12477932;7821789;16169070;21145461;21319273;11073993;20002496;21333655;22863883;22939629;16196087;17620599;22242598;22586326;21110914;12777385;18781797;20639865;20972266;21139048;21890473;21900206;21906983;19471022;22145905;22134777;19322201;20473970;21044950;21628590;17725712;18985028;20195357;21565611;21963094;21988832;22810585;23000965;23251661;23438482;18226242;19339032;19884766;19888548;20697350;22053931;22174317;22505724 4673 B3KNT8;B3KV44;B7Z4K9;B7Z9C2;F5H4R6;F8VRJ2;F8VUC3;F8VUX1;F8VV59;F8VVB5;F8VXI6;F8VY35;F8W020;F8W0J6;F8W118;F8W543;H0YH88;H0YHC3;H0YIV4;P55209 ABBA01026464;ABBA01026465;AC011611;AF086080;AF088017;AF300335;AK021751;AK122670;AK295147;AK297500;AK298936;AK304787;AL162068;AMYH01004597;BC002387;BC015599;BC018565;BT007023;CH471054;D28430;DC321631;M86667;NM_004537;NM_139207 AAC37544;AAG24631;AAH02387;AAP35669;ABM81627;ABM84476;ABM84811;BAA05796;BAG53656;BAH11990;BAH12595;BAH12906;BAH14258;CAB82405;EAW97314;EAW97315;EAW97316;EAW97317;EAW97318;EAW97319;EAW97320;EAW97321;NP_004528;NP_631946;P55209 Hs.524599;Hs.695185 1339055;1653931;1690578;1707850;1722983;1736396;1746803;1856488;2122239;2148635;2149281;2161631;2161633;2163280;2179234;5016771;5123981 A001X15;D12S1660;D12S1919;D12S2017;D14S655E;G19743;G19924;G60591;G64775;RH44713;RH47552;RH66860;RH68239;SGC32694;SHGC-2539;SHGC-82158;STS-T91337 FLJ16112;MGC23410;MGC8688;NAP1;NAP1L;NRP HSP22-like protein interacting protein;NAP-1 related protein;NAP-1-related protein;OTTHUMP00000242072;OTTHUMP00000242126;OTTHUMP00000242127;OTTHUMP00000242128;OTTHUMP00000242129;OTTHUMP00000242130;OTTHUMP00000242131;OTTHUMP00000242211;OTTHUMP00000242213;OTTHUMP00000242214;OTTHUMP00000242216;hNRP;nucleosome assembly protein 1-like 1 APPROVED protein-coding ENSG00000187109 7637 01248 164060 REVIEWED 1313394 NAP1L4 nucleosome assembly protein 1-like 4 This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008] 11 11 p15.5 2922236 2970183 - 2965660 3013607 - 1580863;6480464 21145461;9325046;18281699;17081983;16565220;15489334;15368365;14702039;12477932;11073993;10764593;8923002;12089333;20705733;20002496;20201924;20644730;21333655;22863883;22939629;19135240;20360068;21139048;21890473;21906983;12783858;19322201;21628590;22174317;22190034;22505724 4676 A8MXH2;C9J1B1;C9J6D1;C9JZI7;E9PJJ2;E9PKI2;E9PKT8;E9PNJ7;E9PNW0;E9PP22;E9PS34;F5HFY4;H0YCI4;Q99733 AA573896;AB362575;AB500094;ABBA01032074;ABBA01032075;ABBA01032076;AC131971;AK056828;AK093928;AK095320;AK299515;AK312599;AK316242;AK316324;AK316548;AMYH01003326;BC022090;CH471158;NM_005969;U51281;U77456 AAC50870;AAH22090;ABW03535;ABW03840;BAF81540;BAG35491;BAG61467;BAH14613;BAH14695;BAH14919;BAH95827;EAX02532;EAX02533;EAX02534;NP_005960;Q99733 Hs.731784 1666032;1677879;1713521;1723085;1791772;1850728;2132707;2164420;2168789;5106923 A008B39;D11S4032;PMC124986P3;RH120245;RH121981;RH44269;RH45905;RH78061;WI-16820;WI-20257 MGC4565;NAP1L4b;NAP2;NAP2L;hNAP2 NAP-2;OTTHUMP00000012671;OTTHUMP00000012729;nucleosome assembly protein 1-like 4;nucleosome assembly protein 1-like 4b;nucleosome assembly protein 2 APPROVED protein-coding ENSG00000205531 7640 11873 601651 REVIEWED 1603533 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008] 7 7 7 q22.1 97547949 97597471 - 102527459 102576741 - 102740023 102789569 - 6480464 17207965;22827915;18067139;15820312;14702039;14634025;12477932;20369362;20885390;19715685;21251115;21890473;21906983;23080069;23000965;23122699 222236 C9JGB1;H0Y4Y2;J3KR15;Q6IQ20 AB112352;ABBA01057995;AC007683;AK023244;AK304644;AMYH01017810;AY357337;BC037350;BC057294;BC071604;CH471070;CR936639;HH770856;NM_001122838;NM_198990 AAH37350;AAH71604;AAR13673;ADQ31931;BAD02399;BAG65422;CAI56779;CBX86138;EAW83314;EAW83315;NP_001116310;NP_945341;Q6IQ20 Hs.324271 1652641;2120594;2180604;2180606;5127620 A005K35;G20289;GDB:1317784;RH77969;STS-N40212 DKFZp781D1098;FMP30;NAPE-PLD N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D;NAPE-hydrolyzing phospholipase D;OTTHUMP00000211696;OTTHUMP00000211697;OTTHUMP00000211698;OTTHUMP00000211699;OTTHUMP00000211700;OTTHUMP00000211703 APPROVED protein-coding ENSG00000161048 21683 14809 612334 VALIDATED 1347374 NAPSA napsin A aspartic peptidase The activation peptides of aspartic proteinases plays role as inhibitors of the active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The pronapsin A gene is expressed predominantly in lung and kidney. Its translation product is predicted to be a fully functional, glycosylated aspartic proteinase precursor containing an RGD motif and an additional 18 residues at its C-terminus. [provided by RefSeq, Jul 2008] 19 19 q13.33 55553546 55560743 - 50861734 50868931 - 1580863;6480464 22418245;9877162;18216060;18195689;15048123;14702039;13129928;12698189;12477932;12151090;10591213;10580106;10580105;9561193;8163018;19740516;21164283;20830690;23194051;21464700;21717589;21838611;22198009;14766755;21139048;22156835;22288963;22495379;23333608;23355200 9476 M0QXC5;O96009 ABBA01068328;AC008655;AF090386;AF098484;AF200345;AK055569;AK308013;AK314364;AMYH01009936;BC017842;BC029397;CH471135;NM_004851 AAD04917;AAD13215;AAF17081;AAH17842;ABM82919;ABM86109;EAW71847;EAW71848;EAW71849;NP_004842;O96009 Hs.512843 1767369 G16018 KAP;Kdap;NAP1;NAPA;SNAPA ASP4;TA01/TA02;asp 4;aspartyl protease 4;kidney-derived aspartic protease-like protein;napsin-1;napsin-A;pronapsin A APPROVED protein-coding ENSG00000131400 13395 07064 605631 REVIEWED 733353 NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2011] 19 19 q13.33 52682703 52710309 - 47990891 48018515 - 737787;1580863;6480464 12016511 21931730;16354670;8455721;16189514;15980433;15790807;15542541;15489334;15029241;12477932;10683148;10075705;9817754;9697855;9614193;9507000;9417091;9362506;9349823;9325254;9269766;1601890;1315316;7622514;7553862;9506515;15327778;20562859;11031247;11252894;15272311;8636227;19738201;22623428;23000965;23187805;23383273;20089838;21832049;22939629;22485163;20639865;21139048;21890473;21906983;21963094;22194596;22053931 8775 M0QZM9;M0QZN5;M0R027;M0R031;M0R058;M0R0I4;M0R0Y2;M0R213;M0R2M1;P54920 AA542963;AA807920;ABBA01041040;ABBA01041041;AC073548;AK098401;AK126519;AK292244;AK308633;AK310114;AK310185;AMYH01009885;AW206113;AY927609;BC001165;BC007432;BC028234;BC091511;BQ948081;BT019568;BU168063;CH471126;CX873074;NM_003827;NR_038456;NR_038457;U39412 AAC80170;AAH01165;AAH07432;AAH28234;AAH91511;AAV38375;BAF84933;EAW57489;EAW57490;EAW57491;EAW57492;EAW57493;EAW57494;EAW57495;EAW57496;EAW57497;EAW57498;NP_003818;P54920 Hs.730799;Hs.744881 1778781;1856436;2131747 RH11568;RH15934;STS-R61534 SNAPA SNAP-alpha;alpha-SNAP;alpha-soluble NSF attachment protein APPROVED protein-coding ENSG00000105402 7641 04447 603215 REVIEWED 5684564 NARF-IT1 NARF intronic transcript 1 (non-protein coding) 17 80439974 80441264 + 100506001 XR_109348 NARF-OT1 APPROVED miscrna 43651 1317299 NAPB N-ethylmaleimide-sensitive factor attachment protein, beta 20 20 20 p12.3-p11.21 23428529 23475530 - 23303165 23350081 - 23355156 23402156 - 737634;1580863;6480464;7240710 8455721 15489334;14702039;12477932;11780052;9817754;9697855;1315316;19322201;17207965;21906983 63908 B4DK44;Q4G0M0;Q9H115 ABBA01016177;AI285959;AK022817;AK124876;AK125811;AK126340;AK294703;AK295791;AK296385;AK307709;AL096677;AL834445;AMYH01011775;BC008463;BC026310;BC047426;BC060840;BX648330;CH471133;DC335439;NM_022080 AAH47426;AAH60840;ACE86979;ACE87668;ADQ33036;BAG57860;BAG58612;BAG59056;CAD39105;EAX10150;EAX10151;EAX10152;EAX10153;EAX10154;EAX10155;EAX10156;EAX10157;NP_071363;Q9H115 Hs.269471 1653192;1656690;1660749;1756777;2126481;2166722;2175839;5022578;5022651;5024039;5037552 1840;D11S2921;D16S325;D1S1423;D8S2279;RH11675;RH46032;SGC31306;SHGC-143910;WI-14380;WI-14607 MGC26066;MGC48335;SNAP-BETA;SNAPB OTTHUMP00000030424;beta-soluble NSF attachment protein protein-coding ENSG00000125814 15751 17627 162100;611270 VALIDATED 7247182 NARG2P1 NMDA receptor regulated 2 pseudogene 1 644491 ABBA01070593;AC093789;AMYH01014790;NG_022044 pseudo 48856 INFERRED 7246968 NARG2P2 NMDA receptor regulated 2 pseudogene 2 728432 ABBA01004640;AC106715;AC119724;AMYH01013327;NG_022254 pseudo 48857 INFERRED 1602193 NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 140967186 140970744 - 144728098 144731636 - 144656955 144660513 - 6480464;6907045 17604275;14702039;12477932;22570471;18029348;14704851;18821565;21492230;22863883;22939629;21906983;21963094;21987572;22505724 93100 C9J8U2;C9JC60;G5E977;H0YDA6;H0YF31;Q6XQN6 AB242230;ABBA01005247;AC067930;AF258565;AK097002;AMYH01019110;AY214325;AY214326;AY214327;BC006284;BC014190;BC032466;CH471162;NM_145201 AAG23768;AAH06284;AAH32466;AAP69603;AAP69604;AAP69605;BAF75377;EAW82236;EAW82237;EAW82238;EAW82239;EAW82240;NP_660202;Q6XQN6 Hs.493164 PP3856 FHA-HIT-interacting protein;NAPRTase;OTTHUMP00000211079;OTTHUMP00000211080;OTTHUMP00000211081;OTTHUMP00000211082;nicotinate phosphoribosyltransferase;nicotinate phosphoribosyltransferase domain-containing protein 1;nicotinic acid phosphoribosyltransferase APPROVED protein-coding ENSG00000147813 30450 15161 611552 VALIDATED 1344768 NAPSB napsin B aspartic peptidase, pseudogene 19 19 19 q13.33 47887307 47898255 - 55528869 55539817 - 50837057 50848005 - 1580863;6480464 12477932;12151090;10591213;9877162;23333608 256236 ABBA01068328;AC008655;AF090387;AF098485;AF200344;AK300884;AK310134;AMYH01009936;BC006149;BC019048;BC032360;BC040958;BC053864;BC065203;BC085008;BC111705;NR_002798 AAF17080;BAG62526 Hs.636624 NAP1L;NAP2;NAPB;NAPSBP APPROVED pseudo ENSG00000131401 13396 PROVISIONAL 1346243 NARSP1 asparaginyl-tRNA synthetase pseudogene 1 14 14 14 q12 11620824 11624079 + 30824875 30828530 + 31755322 31758577 + 319127 ABBA01061417;AL136418;AL139353;AMYH01005642;NG_002505 NARSP APPROVED pseudo 19933 INFERRED 1320824 NAPG N-ethylmaleimide-sensitive factor attachment protein, gamma This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008] 18 18 p11.22 10516031 10540372 + 10525873 10552766 + 1580863;6480464 11278501;8455721;19429185;19328558;16395123;16344560;15592455;15489334;14702039;12554740;12477932;10683148;9269766;9165027;9110174;8889548;8619474;1601890;1315316;20205790;17207965;20562859;22939629;21139048;21866343;19322201;22113424 8774 B4DFC9;J3KTJ6;J3QKW4;J3QS28;Q6FHY4;Q99747 ABBA01049970;ABBA01049971;AF131752;AK023725;AK126942;AK294038;AK314495;AMYH01008810;AP001099;BC001889;CA312045;CH471113;CK005676;CR536554;DA296597;NM_003826;U78107 AAB69753;AAH01889;ADQ32289;BAG37095;BAG57390;CAG38791;EAX01582;EAX01583;EAX01584;NP_003817;Q99747 Hs.464622 1664551;1673002;2131975;2144652 A002Y38;BCD3273;SHGC-32282;STS-AA010503 GAMMASNAP SNAP-gamma;gamma SNAP;gamma-soluble NSF attachment protein;soluble NSF attachment protein APPROVED protein-coding ENSG00000134265 7642 04448 603216 REVIEWED 1351106 NASPP1 nuclear autoantigenic sperm protein pseudogene 1 8 8 8 q12 57839279 57842298 - 62011956 62015186 - 61849507 61852525 - 11674998 282694 ABBA01041818;AC022182;AMYH01018758;NG_002431 1645555;1857801 RH66614;RH71394 pseudo 29910 INFERRED 1351476 NARG2 NMDA receptor regulated 2 15 15 15 q22.2 37600442 37660016 - 58499100 58558636 - 60711808 60771344 - 737633;6480464 12477932 15606750;15146197;14702039;12975309;11297529;21890473;19322201;8889548 79664 G3V0H6;H0YK14;H0YK96;H0YK97;H0YL35;H0YMX6;H0YN09;H0YNU9;Q6UX23 ABBA01038947;ABBA01038948;ABBA01038949;AC087385;AF502591;AK021958;AK055752;AK095389;AK127892;AL832046;AL833122;AL833318;AMYH01006691;AMYH01006692;AY358546;BC013684;BC020918;BC071685;BC107427;BC140894;BC151844;BU738348;BX647873;CH471082;CN342776;CR749852;NM_001018089;NM_001276385;NM_024611 AAH13684;AAH20918;AAH71685;AAI07428;AAI40895;AAQ07460;AAQ88910;BAB13948;BAG51567;BAG54594;CAH18700;CAH56197;CAH56202;CAH56220;EAW77588;EAW77589;EAW77590;NP_001018099;NP_001263314;NP_078887;Q659A1 Hs.200943 1725081;1738953;1767248;2129687;5020948;5022200;5022578;5022588;5022651;5024756;5037552 D11S2921;D15S855;D1S1423;D5S1597E;D8S2279;G35510;L18426;RH118836;RH77798;RH80030;SGC35006 BRCC1 NMDA receptor-regulated gene 2;NMDA receptor-regulated protein 2;OTTHUMP00000163651;breast cancer cell 1 protein-coding ENSG00000128915 29885 17628 610835 VALIDATED 1605690 NARF nuclear prelamin A recognition factor Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77007484 77037920 + 78009349 78039432 + 80416060 80446143 + 6480464 10514485;18680752;17654502;17326827;16344560;15667261;14702039;12477932;2123808;17207965;20970119;20379614;20562864;21832049;21906983 26502 B4DZZ6;E7EP87;E9PH27;J3KRH7;J3KS03;J3KS48;J3KT43;J3KTG5;J3KTP5;J3QL28;J3QLT6;J3QRB0;J3QSD9;Q9UHQ1 AA568571;ABBA01019680;ABBA01019681;ABBA01019682;AC124287;AC132938;AF128406;AK000929;AK056966;AK093717;AK297875;AK303155;AL137729;AMYH01008733;BC000438;BC016440;BQ228233;CH471099;DA695448;DB123829;EF601655;EF601656;NM_001038618;NM_001083608;NM_012336;NM_031968 AAD51446;AAH00438;AAH16440;ACH58579;ACH58580;ADQ32705;BAA91432;BAG51834;BAG52753;BAG60200;BAG64258;EAW89794;EAW89795;EAW89798;NP_001033707;NP_001077077;NP_036468;NP_114174;Q9UHQ1 Hs.256526;Hs.600304 1683617;1717667;5016478;5022578;5022651 D11S2921;D1S1423;GDB:434012;RH122138;RH80149 DKFZp434G0420;FLJ10067;IOP2 iron-only hydrogenase-like protein 2;nuclear prelamin A recognition factor;prenyl-dependent prelamin A binding protein APPROVED protein-coding ENSG00000141562 29916 05637 605349 REVIEWED 1314335 NARFL nuclear prelamin A recognition factor-like 16 16 16 p13.3 979932 991162 - 719768 730998 - 779767 790997 - 6480464 16956324;18270200;14702039;12477932;11157797;8125298;19864422;21832049;21906983;20881960 64428 B4DEE7;H3BPX8;H3BQ03;H3BSH2;H3BSJ7;H3BUF3;I3L2A3;Q9H6Q4 ABBA01030350;ABBA01030351;ABBA01030352;AE006464;AK025641;AK025861;AK056467;AK094812;AK095675;AK126151;AK223005;AK293591;AK300087;AK301023;AK310875;AMYH01007003;AY129231;BC030248;BC129940;CH471112;NM_022493;Z98258 AAH30248;AAI29941;AAK61251;AAM98737;BAB15199;BAB15261;BAD96725;BAG51721;BAG53105;BAG57058;BAG61890;BAG62639;EAW85722;EAW85723;EAW85724;NP_071938;Q9H6Q4 Hs.513247 1729807;5015881;5020948;5118800 D11S3663;D16S314;G35510;GDB:335751 FLJ21988;HPRN;IOP1;LET1L;PRN LET1 like/JFP15;OTTHUMP00000151179;cytosolic Fe-S cluster assembly factor NARFL;iron-only hydrogenase-like protein 1;nuclear prelamin A recognition factor-like protein;protein related to Narf protein-coding ENSG00000103245 14179 14810 611118 PROVISIONAL 1316312 NARS asparaginyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 51984720 52006007 - 53418889 53440175 - 55267891 55289177 - 1580863;6480464 9421509;15231747;16713569;15489334;12477932;9801298;9110174;8619474;8125298;6836455;20877624;22863883;22939629;18781797;21139048;21890473;21906983;16196087;22586326;18029348;22174317 4677 B4DG16;B4DN60;K7EIU7;K7EJ19;K7EMQ6;K7ENF0;K7EPK2;K7EQ35;O43776 ABBA01056131;AC027097;AC100847;AJ000334;AK129897;AK222835;AK293985;AK294364;AK294763;AK297777;AMYH01009023;BC001687;CH471096;D84273;DC302277;NM_004539;U79254 AAH01687;BAA34600;BAD96555;BAG57352;BAG57627;BAG57897;BAG60122;CAA04008;EAW63048;EAW63049;NP_004530;O43776 Hs.465224 1662964;1666873;1778944;2110979;2150034 A002F37;D18S373E;D18S925E;RH35852;T16130 ASNRS;NARS1 asparagine tRNA ligase 1, cytoplasmic;asparagine--tRNA ligase;asparagine--tRNA ligase, cytoplasmic;asparaginyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000134440 7643 00154 108410 VALIDATED 1605947 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative) 11 11 11 q14.1 75455482 75594400 - 77824886 77963367 - 78147007 78285909 - 6480464 8125298;16344560;15779907;15489334;15342556;14702039;12477932;20877624;20379614;22190034 79731 B3KPX5;E9PRK2;G3V178;H0YE96;H0YEL9;Q96I59;Q9H5H1 ABBA01017400;ABBA01017401;ABBA01017402;AK027094;AK056980;AK225444;AK315425;AMYH01003828;AMYH01003829;AP003086;AP003110;AW968557;BC007800;BM023108;BP196275;BP199309;CH471076;DA509243;DB565980;NM_001243251;NM_024678 AAH07800;BAB15655;BAG37813;BAG51837;EAW75061;EAW75062;EAW75063;NP_001230180;NP_078954;Q96I59 Hs.503389 1658535;1665283 D11S1937E;WI-11419 FLJ23441;SLM5;asnRS OTTHUMP00000234023;OTTHUMP00000234024;asnRS;asparagine tRNA ligase 2, mitochondrial (putative);asparagine--tRNA ligase;probable asparagine--tRNA ligase, mitochondrial;probable asparaginyl-tRNA synthetase, mitochondrial protein-coding ENSG00000137513 26274 08026 612803 VALIDATED 1344668 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 8 8 p22 18111895 18125100 + 18027971 18081198 + 1298615;1580863;2303760;2317168;2317170;5131865;5131864;5131866;4140950;6480464;7240710 7773298;12355549;18499698;18006927;11266080;12037388;9626964;18258609 16906563;16847422;16788383;16740387;16680433;16507510;16471212;16459354;16434594;16416399;16399351;16112301;16049806;16006997;16003747;15987714;15959877;15901993;15853926;15784508;15770721;15746160;15736440;15725609;15725081;15717312;15688397;15637738;15523664;15489334;15466980;15320760;15256524;15226672;15197537;15142281;15136237;15127906;15095308;15090724;15090717;15064998;15039438;14705222;14672957;14634838;14608357;14564055;14517345;12946272;12902152;12888564;12879167;12860276;12835615;10908296;1559981;19527514;19420222;19368118;19273964;19177501;19143007;19074885;19019335;18990750;18818748;18636124;18569602;18569593;18569577;18544563;18510611;18503826;18449058;18447907;18372103;18365755;18322880;18288399;18268115;18262724;18259988;18207572;18199719;18090909;18069763;18022202;17973251;17909564;17726690;17700360;17675654;17656365;17646057;17591675;17564319;17564315;17537267;17522066;17392017;17259654;17191090;17036310;17026750;16981843;16959263;16926176;12832400;12718576;12692115;12682333;12631536;12552951;12537647;12485520;12477932;12419761;12376500;12143122;12139735;12135032;12088198;12074508;12052143;11955677;11955676;11927838;11895912;11751443;11719088;11532862;11487538;11470992;11470991;11431340;11422615;11393533;11291049;11034589;10862520;10791558;10767335;10409428;9682272;9511183;9511182;9173883;9168895;8442668;8110178;7627961;2340091;1968463;21290563;1676262;19379125;19549810;19561488;19663877;19692168;19751749;19789190;19809881;19822571;19834256;19898993;19956635;20029944;20032816;20099048;20100460;20131310;20173083;20176657;20180013;20214802;20437058;20468060;17207965;20140262;20701904;20819778;20931357;21080951;19913121;20570911;20628086;20634891;20628863;22333393;22905173;15123239;23183268;21878835;22114069;21347396;22686306;21139048;21995608;22010219;21837760;23160945;22327651 9 F5H5R8;P18440;Q400J6 ABBA01021574;ABBA01021575;AC124242;AF008204;AF032677;AF032678;AF067408;AF071552;AF082903;AF082904;AF308866;AJ278017;AJ307007;AJ581135;AJ581136;AJ581137;AJ581138;AJ581139;AJ581140;AJ581141;AJ581142;AJ581143;AJ581151;AJ581152;AJ581153;AJ581155;AJ581157;AK290912;AMYH01018550;AV754344;AY338489;AY376850;AY730684;AY800271;BC013732;BC047666;BG941635;BQ024509;BU753390;BX647521;CD702544;CH471080;D90041;DQ305816;DQ305817;DQ305818;DQ305819;DQ305820;DQ305821;DQ305822;DQ305823;DQ305824;DQ305825;DQ305826;DQ305827;DQ305828;DQ305829;DQ305830;DQ305831;DQ305832;DQ305833;DQ305834;DQ305835;DQ305836;DQ305837;DQ305838;DQ305839;DQ305840;DQ305841;DQ305842;DQ305843;DQ305844;DQ305845;DQ305846;DQ305847;DQ305848;DQ305849;DQ305850;DQ305851;DQ305852;DQ305853;DQ305854;DQ305855;DQ305856;DQ305857;DQ305858;DQ305859;DQ305860;DQ305861;DQ305862;DQ305863;DQ305864;DQ305865;DQ305866;DQ305867;DQ305868;DQ305869;DQ305870;DQ305871;DQ305872;DQ305873;DQ305874;DQ305875;DQ305876;DQ305877;DQ305878;DQ305879;DQ305880;DQ305881;DQ305882;DQ305883;DQ305884;DQ305885;DQ305886;DQ305887;DQ305888;DQ305889;DQ305890;DQ305891;DQ305892;DQ305893;DQ305894;DQ305895;DQ305896;DQ305897;DQ305898;DQ305899;DQ305900;DQ305901;DQ305902;DQ305903;DQ305904;DQ305905;DQ305906;DQ305907;DQ305908;DQ305909;DQ305910;DQ305911;DQ305912;DQ305913;DQ305914;DQ305915;DQ305916;DQ305917;DQ305918;DQ305919;DQ305920;DQ305921;DQ305922;DQ305923;DQ305924;DQ305925;DQ305926;DQ305927;DQ305928;DQ305929;DQ305930;DQ305931;DQ305932;DQ305933;DQ305934;DQ305935;DQ305936;DQ305937;DQ305938;DQ305939;DQ305940;DQ305941;DQ305942;DQ305943;DQ305944;DQ305945;DQ305946;DQ305947;DQ305948;DQ305949;DQ305950;DQ305951;DQ305952;DQ305953;DQ305954;DQ305955;DQ305956;DQ305957;DQ305958;DQ305959;DQ305960;DQ305961;DQ305962;DQ305963;DQ305964;DQ305965;DQ305966;DQ305967;DQ305968;DQ305969;DQ305970;DQ305971;DQ305972;DQ305973;DQ305974;DQ305975;HB919748;HB961362;HC977157;HD018772;NG_012245;NM_000662;NM_001160170;NM_001160171;NM_001160172;NM_001160173;NM_001160174;NM_001160175;NM_001160176;NM_001160179;S78829;U80835;X17059 AAB62398;AAB84384;AAB86878;AAB86879;AAC24707;AAC24712;AAC32388;AAD13343;AAG23842;AAH47666;AAP88036;AAQ74989;AAV50002;AAX22230;ABC26192;ABC26193;ABC26194;ABC26195;ABC26196;ABC26197;ABC26198;ABC26199;ABC26200;ABC26201;ABC26202;ABC26203;ABC26204;ABC26205;ABC26206;ABC26207;ABC26208;ABC26209;ABC26210;ABC26211;ABC26212;ABC26213;ABC26214;ABC26215;ABC26216;ABC26217;ABC26218;ABC26219;ABC26220;ABC26221;ABC26222;ABC26223;ABC26224;ABC26225;ABC26226;ABC26227;ABC26228;ABC26229;ABC26230;ABC26231;ABC26232;ABC26233;ABC26234;ABC26235;ABC26236;ABC26237;ABC26238;ABC26239;ABC26240;ABC26241;ABC26242;ABC26243;ABC26244;ABC26245;ABC26246;ABC26247;ABC26248;ABC26249;ABC26250;ABC26251;ABC26252;ABC26253;ABC26254;ABC26255;ABC26256;ABC26257;ABC26258;ABC26259;ABC26260;ABC26261;ABC26262;ABC26263;ABC26264;ABC26265;ABC26266;ABC26267;ABC26268;ABC26269;ABC26270;ABC26271;ABC26272;ABC26273;ABC26274;ABC26275;ABC26276;ABC26277;ABC26278;ABC26279;ABC26280;ABC26281;ABC26282;ABC26283;ABC26284;ABC26285;ABC26286;ABC26287;ABC26288;ABC26289;ABC26290;ABC26291;ABC26292;ABC26293;ABC26294;ABC26295;ABC26296;ABC26297;ABC26298;ABC26299;ABC26300;ABC26301;ABC26302;ABC26303;ABC26304;ABC26305;ABC26306;ABC26307;ABC26308;ABC26309;ABC26310;ABC26311;ABC26312;ABC26313;ABC26314;ABC26315;ABC26316;ABC26317;ABC26318;ABC26319;ABC26320;ABC26321;ABC26322;ABC26323;ABC26324;ABC26325;ABC26326;ABC26327;ABC26328;ABC26329;ABC26330;ABC26331;ABC26332;ABC26333;ABC26334;ABC26335;ABC26336;ABC26337;ABC26338;ABC26339;ABC26340;ABC26341;ABC26342;ABC26343;ABC26344;ABC26345;ABC26346;ABC26347;ABC26348;ABC26349;ABC26350;ABC26351;ACE86961;ACE87651;ADQ33043;BAA14095;BAF83601;CAA34905;CAC01128;CAC38345;CAE46162;CAE46163;CAE46164;CAE46165;CAE46166;CAE46167;CAE46168;CAE46169;CAE46170;CBF94879;CBG15306;CBV08399;CBV28752;EAW63787;NP_000653;NP_001153642;NP_001153643;NP_001153644;NP_001153645;NP_001153646;NP_001153647;NP_001153648;NP_001153651;P18440 Hs.591847 1792838;1792840;1796386;2115845;2166020;2176123 NAT1_469;PMC165273P1;PMC165273P2;RH70671;STS-D90041;STS-R79401 AAC1;MNAT;NAT-1;NATI N-acetyltransferase type 1;OTTHUMP00000122488;OTTHUMP00000224577;OTTHUMP00000224578;OTTHUMP00000224579;arylamide acetylase 1;arylamine N-acetyltransferase 1;monomorphic arylamine N-acetyltransferase 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000171428 7645 00149 108345;604715 REVIEWED 1601749 NAT14 N-acetyltransferase 14 (GCN5-related, putative) 19 19 19 q13.42 53036524 53038865 + 60688406 60690747 + 55996557 55998935 + 6480464 11779635;10873651;12477932;17207965;16341674;8889548;19807691;21900206;21139048;21988832 57106 M0QZH3;M0R1E3;M0R284;Q8WUY8 AB038651;AB055059;ABBA01020870;AC008735;AF086533;AMYH01010001;BC019079;BM785191;BU730663;CH471135;NG_027671;NM_020378 AAH19079;ADQ33171;BAB03716;BAB85857;EAW72385;EAW72386;NP_065111;Q8WUY8 Hs.31854;Hs.743517 1689191;1694424;2134511 G42907;RH77907;RH91819 KLP1 K562 cell-derived leucine-zipper-like protein 1;K562 cells-derived leucine zipper-like protein 1;K562 cells-derived leucine-zipper-like protein 1;N-acetyltransferase 14 protein-coding ENSG00000090971 28918 10036 VALIDATED 1601690 NAT16 N-acetyltransferase 16 (GCN5-related, putative) 7 7 7 q22.1 95822130 95831905 - 100600498 100610277 - 100813774 100823557 - 6480464 14702039;12477932;22607974;8889548 375607 B3KRS2;C9JB11;Q8N8M0 ABBA01011346;ABBA01011347;ABBA01011348;AC004876;AK096556;AL831911;AMYH01017751;BC037583;BC104841;BU740913;CH471197;NM_198571 AAI04842;BAC04815;CAD38574;EAW50202;NP_940973;Q8N8M0 Hs.213044 2127385 SHGC-31034 C7orf52;DKFZp547K159;FLJ39237 OTTHUMP00000211483;OTTHUMP00000211485;putative N-acetyltransferase 16;putative N-acetyltransferase C7orf52 APPROVED protein-coding ENSG00000167011 22030 13434 VALIDATED 1605376 NAT10 N-acetyltransferase 10 (GCN5-related) 11 11 p13 34083725 34125033 + 34127111 34168458 + 6480464;6907045 17353931;11214970;19303003;17631499;17180247;16381901;15489336;15489334;15146197;14702039;14592445;12477932;12429849;11230166;11076863;8125298;18954305;21145461;21177859;16751776;19454010;18677378;18082603;21182205;22939629;16196087;21252943;15848144;19343720;19596686;21139048;21890473;21906983;21628590;22586326;22174317;22952844 55226 B4DFD5;E7ESU4;E9PJN6;E9PMU0;Q9H0A0 AB051496;ABBA01060874;ABBA01060875;AC090469;AF489535;AK001636;AK022241;AK074430;AK225341;AK294044;AL136882;AMYH01003486;BC014440;BC020205;BC035558;BM988569;CH471064;CN336530;NM_001144030;NM_024662 AAH20205;AAH35558;AAO49126;BAA91800;BAB13995;BAB21800;BAG57396;CAB66816;CAL37974;EAW68174;EAW68175;NP_001137502;NP_078938;Q9H0A0 Hs.577281 2135483 WI-15813 ALP;DKFZp434C116;FLJ10774;FLJ12179;FLJ23850;KIAA1709;NET43 N-acetyltransferase 10;N-acetyltransferase-like protein;OTTHUMP00000232332;OTTHUMP00000232333 protein-coding ENSG00000135372 29830 10964 609221 VALIDATED 1605124 NASP nuclear autoantigenic sperm protein (histone-binding) This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008] 1 1 p34.1 45822304 45857154 + 46049660 46084578 + 6480464 17353931;18782834;17081983;16964243;16728391;16710414;16189514;15489334;15302935;15247327;14702039;12509435;12477932;11674998;11133655;10931132;10893414;8724350;8363049;8125298;3549279;2289011;2289010;1426632;16169070;15664198;14718166;8889548;19439102;20085707;20164540;20167597;21319273;22863883;22939629;20504901;16196087;21496299;19135240;22407294;21139048;21890473;21906983;19471022;19410544;21900206;21987572;22195965;21965532;21044950;22194605;15385968;21963094;22968912;23000965;22053931;22505724;22944692 4678 E9PAU3;E9PI86;E9PJQ2;E9PKR5;E9PNB5;E9PPQ8;E9PPR5;E9PQG5;E9PRH9;H0YDS9;H0YF33;Q5T624;Q5T626;Q96A69 ABBA01050862;ABBA01050863;AF035191;AK056161;AK092829;AK222778;AK222816;AK291637;AK298893;AK299584;AK308001;AL355480;AL512718;AL571577;AMYH01000574;BC003113;BC009933;BC010105;BC011580;BC053608;BT006757;CH471059;CK300084;CX781565;DC361634;M97856;NG_029224;NM_001195193;NM_002482;NM_152298 AAA36027;AAD02006;AAH03113;AAH09933;AAH10105;AAH11580;AAH53608;AAP35403;ABM84201;ABM87605;BAD96498;BAD96536;BAF84326;BAG61005;BAG61519;EAX06964;EAX06965;EAX06966;EAX06967;EAX06968;EAX06969;NP_001182122;NP_002473;NP_689511;P49321 Hs.319334 1645555;1857801;5015861;5015881;5020946;5021228;5022578;5124554;5491736;7185938 D10S16;D1S1423;GDB:312794;GDB:335751;L17971;NASP;RH66614;RH71394;RH98740 DKFZp547F162;FLB7527;FLJ31599;FLJ35510;MGC19722;MGC20372;MGC2297;PRO1999 N1/N2-like;OTTHUMP00000009508;OTTHUMP00000009509;OTTHUMP00000009511;OTTHUMP00000009512;OTTHUMP00000009513;OTTHUMP00000231458;histone H1-binding protein;nuclear autoantigenic sperm protein APPROVED protein-coding ENSG00000132780 7644 04423 603185 REVIEWED 1605078 NAT8B N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 73778479 73779310 - 73781144 73781975 - 73927636 73928467 - 6480464 11397015;19011241;16395595;12477932;20383145;20383146;22318606;22267734 51471 Q9UHF3 ABBA01075584;AC092653;AF185571;AMYH01010439;BC069564;BC121101;BC121102;BX105650;CH471053;NM_016347 AAF22299;AAI60071;EAW99724;NP_057431;Q9UHF3 Hs.728429 5493967 UniSTS:480559 CML2;Hcml2;MGC97061;NAT8BP N-acetyltransferase 8B (gene/pseudogene);N-acetyltransferase Camello 2;camello-like protein 2;probable N-acetyltransferase 8B APPROVED protein-coding 30235 12188 608190 VALIDATED 1350744 NAT8 N-acetyltransferase 8 (GCN5-related, putative) This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008] 2 2 2 p13.2 73718675 73720362 - 73721358 73723045 - 73867850 73869537 - 1580863;6480464 11397015;9852678;19011241;18402670;15761153;12477932;1139715;20392701;20383146;20385109;20383145;23535967;21886157;21931564;22267734 9027 Q9UHE5 AB013094;AB019551;ABBA01075584;AC092653;AF187813;AMYH01010438;BC012626;BG426653;CH471053;CR407610;NM_003960 AAF22303;AAH12626;ADZ15800;BAA33679;BAA34386;CAG28538;EAW99727;NP_003951;Q9UHE5 Hs.14637 1696998;1796390 NAT8_959;RH101973 ATase2;CML1;GLA;Hcml1;TSC501;TSC510 N-acetyltransferase 8 (camello like);OTTHUMP00000202400;camello-like protein 1;kidney- and liver-specific gene product;probable N-acetyltransferase 8 APPROVED protein-coding ENSG00000144035 18069 08413 606716 REVIEWED 6481364 NAV2-AS1 NAV2 antisense RNA 1 100874015 AC015684 APPROVED miscrna 40744 6481360 NAV2-AS2 NAV2 antisense RNA 2 100874014 AC015684 APPROVED miscrna 40743 6481357 NAV2-AS3 NAV2 antisense RNA 3 100874013 AC015684 APPROVED miscrna 40742 5132781 NAV2-AS4 NAV2 antisense RNA 4 11 11 p15.1 19665169 19678356 - 19532440 19545625 - 14702039 399876 ABBA01061037;AC023950;AK023501;AMYH01003432;NG_030347;NR_033989 Hs.132600 1646184 RH36118 FLJ13439 APPROVED miscrna ENSG00000254622 40741 VALIDATED 1350941 NAT6 N-acetyltransferase 6 (GCN5-related) This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011] 3 3 3 p21.3 50306664 50309543 - 50308837 50311716 - 50333833 50336852 - 1332585;1580863;6480464 11929860 16641997;15489334;15036368;12477932;11085536;10644992;16169070;19789190;15885884;21832049;18029348 24142 C9J451;C9JL88;Q6IAP1;Q93015 ABBA01024552;AF040705;AF040706;AK313803;AMYH01013168;BC004483;BC035689;BC051750;BM147777;BM989194;CH471055;CR457113;NM_001200016;NM_001200018;NM_012191;U73167;U90094 AAC02732;AAC70912;AAC70913;AAH04483;ACE87077;ACE87757;BAG36539;CAG33394;EAW65077;EAW65078;EAW65079;EAW65080;EAW65081;EAW65082;NP_001186945;NP_001186947;NP_036323;Q93015 Hs.129910;Hs.736942 1721471;1771356;1793740;1793742;1847897;2117658;2127395;2219818 D3S4188;G59589;HYAL1__6616;PMC26875P3;PMC26875P4;SHGC-76997;STS-U03056;WIAF-2197 FUS-2;FUS2 N-acetyltransferase 6;OTTHUMP00000211057;OTTHUMP00000211058;OTTHUMP00000211060;OTTHUMP00000211061;OTTHUMP00000211062;OTTHUMP00000211063;protein fus-2;protein fusion-2;putative tumor suppressor APPROVED protein-coding ENSG00000243477 30252 06148 607073 REVIEWED 6481019 NAV2-IT1 NAV2 intronic transcript 1 (non-protein coding) 100874305 AC113193 miscrna 41416 1602409 NAT8L N-acetyltransferase 8-like (GCN5-related, putative) This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010] 4 4 4 p16.3 1973294 1982873 + 2031385 2037433 + 2061239 2070816 + 6480464 14702039;12477932;11397015;20643647;19807691;20385109;19524112;21936773 339983 Q8N9F0 ABBA01029521;AK094797;AL132868;AL137326;AMYH01013874;BC010045;BC093906;BC093908;BC103748;CH471131;NG_027961;NM_178557;XM_003403774;Z69638 AAH93906;AAH93908;AAI03749;BAC04426;EAW82541;NP_848652;Q8N9F0;XP_003403822 Hs.318529 1739329 D4S2774E CML3;DKFZp434B0650;DKFZp566H184;FLJ37478;Hcml3;MGC117272;NAAGS;NACED;NAT8-LIKE N-acetylaspartate synthetase;N-acetylaspartyl-glutamate synthetase;N-acetyltransferase 8-like protein;NAA synthetase;camello-like protein 3 APPROVED protein-coding ENSG00000185818 26742 08224 610647;614063 REVIEWED 732527 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008] 8 8 p22 18293035 18303003 + 18248755 18258723 + 1298615;1581053;1580863;2303760;2303765;2311597;2311598;2303766;2317169;2317172;5131600;4140932;4892219;5131856;5131606;5131605;5131858;5131863;5131861;5131602;6480464;7240710 7773298;8961976;12355549;12402313;16397907;10591543;9343502;18027363;15901993;20602614;20297661;17442289;16155914;16924569;19558213;15993904;12884528;15808403;19922706 17656365;17653908;17611777;17610937;17569138;17564303;17537267;17535831;17525862;17522066;17513527;17512776;17510079;17509624;17503170;17502830;17479278;17477782;17449559;17441464;17434923;17377643;17335581;17291352;17290402;17290401;17287389;17270484;17264801;17259654;17224641;17205146;17194620;17191090;17160896;17078101;17063266;17026750;17025166;16985032;16981843;16926176;16906563;16896994;16886893;16847422;16827944;16782969;16770646;16740387;16721725;16697254;16629768;16621679;16615268;16614098;16571112;16570187;16567317;16556682;16533241;16531626;16507510;16504378;16488179;16481889;16471212;16459354;16434599;16434594;16424825;16416399;16399350;16380991;16369173;16327307;16251120;17661210;16246623;16224574;16182272;16151580;2340091;1559981;19643819;19608015;19589345;19588544;19575027;19560446;19549811;19549810;19546880;19527514;19492240;19443391;19443378;19433464;19390575;19380028;19368118;19358278;19351215;19350634;19343046;19339270;19336370;19336229;19334527;19307236;19303722;19287511;19273964;19264973;19247692;19177501;19169061;19164093;19161160;19118072;19116874;19107910;19074885;19031960;19019335;19012698;18992263;18990750;18986377;18936436;18840375;18838334;18818748;18798002;18773084;18768514;18713495;18706736;18704388;18703023;18680468;18680467;18642288;18636124;18630123;18610829;18601742;18600257;18569594;18569591;18569577;18544910;18544563;18510611;18499698;18449058;18423013;18421452;18398952;18372103;18365755;18349284;18330759;18304320;18287869;18268115;18264785;18262724;18258609;18207572;18199719;18187392;18167504;18160997;18159984;18090909;18075007;18061941;18033638;18026184;18023090;18022202;18019020;18006927;17996038;17973219;17950035;17936995;17880378;17726690;17684133;17675654;17665185;16150277;16141799;16112301;16097053;16083506;16049806;16015704;16006997;16003747;15987714;15987434;15931768;15914277;15914211;15905799;15890241;15855489;15853926;15829318;15808404;15784508;15774926;15770721;15746160;15743503;15736440;15725609;15725081;15717312;15700302;15691505;15679955;15671210;15663505;15637738;15618686;15617035;15612575;15588473;15565348;15558239;15548945;15546075;15499621;15489334;15450429;15355699;15339384;15316701;15312364;15256524;15226677;15225898;15162844;15142281;15136237;15127906;15122594;15111988;15110095;15090724;15090717;15069692;15069679;15061915;15032315;15005011;14994828;14747882;14705222;14656945;14648207;14646291;14634838;14618622;14582397;14564055;14528063;14504199;12888564;12883749;12879168;12877350;12860276;12835615;12818290;12814450;12773763;12768436;12760253;12747609;12747608;12724621;12718576;15609332;15602826;12708724;12692115;12682333;12680328;12668988;12663508;12654968;12631536;12630978;12622714;12611196;12584178;12580987;12552997;12552951;12546735;12544513;12492617;12484238;12477932;12474054;12469231;12465141;12430181;12419832;12397635;12376500;12360107;12165742;12163332;12163321;12139735;12135032;12110344;12088198;12082022;12074508;12067576;12037388;12018173;12016157;12015038;12012143;11967624;11936704;11934439;11927838;11915035;11911601;11895912;11872636;11865668;11858170;11846845;11815396;11791896;11774959;11773864;11773863;11751443;11751441;11751440;11751430;11719088;11702663;12235453;12222688;11675475;11595069;11520401;11487538;11482447;11470992;11470991;11431340;11422615;11393533;11372006;11323315;11291049;11285205;11266080;11245417;11219774;11219770;11214777;11201682;11186133;11181983;11099063;11034589;11008907;10862519;10791558;10625170;9202751;8466518;8460648;8110178;8102597;7920692;7915226;7902079;2924904;2734109;2068113;1996083;1968463;1676262;1441598;1381364;1306121;21989592;22000673;22403658;22092501;22215203;22588343;22293947;21390146;21261721;20683028;19379125;19452301;19663877;19692168;19692670;19751749;19761367;19766908;19789190;19809881;19822571;19823052;19826048;19834256;19891553;19898993;19909761;19947517;19956635;19996973;20004212;20029944;20032816;20040334;20047124;20063011;20088379;20099048;20136364;20173083;20175805;20180012;20180013;20185366;20197243;20214802;20304699;20364044;20373852;20375710;20391138;20392357;20403997;20437058;20437850;20453000;20459474;20461808;20501762;20875375;19913121;20568013;20570911;20628086;20634891;20637371;20641098;20679960;20682180;20739907;20801937;20647132;11044903;20701904;20847076;20884738;20923563;20935060;20941486;20972438;21037224;21047300;21072184;21080951;21228703;21572414;21188325;21254355;21321790;21494681;22905173;22268821;22731637;22947533;22722991;22788240;21820610;23216273;21856096;22506592;22105431;23000867;21254844;21418817;21750470;21877196;21723161;21980537;22074863;21684175;21292342;22146408;21995608;23394391;21352246;21888617;22106207;22283902;20686565;21886157;22012226;22424094;22613106;22686318;22137356;21832049;22782629;23053951;22628494;23160945;22970273;22246524;22714076;23622008 10 A4Z6T7;E7EWF9;Q96KY8 ABBA01021573;AC025062;AC120051;AF042740;AF055874;AF055875;AF320309;AF348074;AF348075;AI460128;AJ581144;AJ581145;AJ581146;AJ581147;AMYH01018550;AY230251;AY230252;AY331807;BC015878;BC067218;CH471080;CR407631;D10870;D10871;D10872;D90040;D90042;DQ305496;DQ305497;DQ305498;DQ305499;DQ305500;DQ305501;DQ305502;DQ305503;DQ305504;DQ305505;DQ305506;DQ305507;DQ305508;DQ305509;DQ305510;DQ305511;DQ305512;DQ305513;DQ305514;DQ305515;DQ305516;DQ305517;DQ305518;DQ305519;DQ305520;DQ305521;DQ305522;DQ305523;DQ305524;DQ305525;DQ305526;DQ305527;DQ305528;DQ305529;DQ305530;DQ305531;DQ305532;DQ305533;DQ305534;DQ305535;DQ305536;DQ305537;DQ305538;DQ305539;DQ305540;DQ305541;DQ305542;DQ305543;DQ305544;DQ305545;DQ305546;DQ305547;DQ305548;DQ305549;DQ305550;DQ305551;DQ305552;DQ305553;DQ305554;DQ305555;DQ305556;DQ305557;DQ305558;DQ305559;DQ305560;DQ305561;DQ305562;DQ305563;DQ305564;DQ305565;DQ305566;DQ305567;DQ305568;DQ305569;DQ305570;DQ305571;DQ305572;DQ305573;DQ305574;DQ305575;DQ305576;DQ305577;DQ305578;DQ305579;DQ305580;DQ305581;DQ305582;DQ305583;DQ305584;DQ305585;DQ305586;DQ305587;DQ305588;DQ305589;DQ305590;DQ305591;DQ305592;DQ305593;DQ305594;DQ305595;DQ305596;DQ305597;DQ305598;DQ305599;DQ305600;DQ305601;DQ305602;DQ305603;DQ305604;DQ305605;DQ305606;DQ305607;DQ305608;DQ305609;DQ305610;DQ305611;DQ305612;DQ305613;DQ305614;DQ305615;DQ305616;DQ305617;DQ305618;DQ305619;DQ305620;DQ305621;DQ305622;DQ305623;DQ305624;DQ305625;DQ305626;DQ305627;DQ305628;DQ305629;DQ305630;DQ305631;DQ305632;DQ305633;DQ305634;DQ305635;DQ305636;DQ305637;DQ305638;DQ305639;DQ305640;DQ305641;DQ305642;DQ305643;DQ305644;DQ305645;DQ305646;DQ305647;DQ305648;DQ305649;DQ305650;DQ305651;DQ305652;DQ305653;DQ305654;DQ305655;DQ422139;DQ422140;DQ422141;DQ422142;DQ422143;DQ472738;DQ472742;DQ472746;DQ472749;DQ472754;DQ472755;DQ472760;DQ472762;DQ472768;DQ472778;DQ472780;DQ472793;DQ472796;DQ472798;DQ472804;DQ472808;DQ472812;DQ472813;DQ472816;DQ472820;DQ472822;DQ472832;DQ472848;DQ472864;DQ472866;DQ472868;DQ472869;DQ472872;DQ472873;DQ472881;DQ472892;DQ472900;DQ472906;DQ472914;DQ472916;DQ472918;DQ472926;DQ472929;DQ472938;DQ472941;DQ472949;DQ472951;DQ472952;DQ472961;DQ472964;DQ472980;DQ472984;DQ472996;DQ473006;DQ473008;DQ473010;DQ473012;DQ473014;DQ473015;DQ473016;DQ473022;DQ473023;DQ473026;DQ473027;DQ473030;DQ473031;DQ473034;DQ473039;DQ473044;DQ473048;DQ473062;DQ473066;DQ473068;DQ473070;DQ473090;DQ473094;DQ473095;DQ473096;DQ473104;DQ473107;DQ473111;DQ473112;DQ473113;DQ473114;DQ473115;DQ473118;DQ473130;DQ473132;DQ473134;DQ473136;DQ473139;DQ473143;DQ473144;DQ473146;DQ473149;DQ473152;DQ473153;DQ473154;DQ473155;DQ473159;DQ473163;DQ473174;DQ473187;DQ473208;DQ473212;DQ473213;DQ473216;DQ473217;DQ473219;DQ473222;DQ473224;DQ473230;DQ473232;DQ473233;DQ473235;DQ473236;DQ473238;DQ473240;DQ473254;DQ473256;DQ473258;DQ473260;DQ473261;DQ473262;DQ473264;DQ904040;DQ904041;DQ904042;DQ904043;DQ904044;DQ904046;DQ904048;DQ904050;DQ904053;DQ904054;DQ904056;DQ904058;DQ904060;DQ904062;DQ904064;DQ904066;DQ904068;DQ904071;DQ904072;DQ904074;DQ904076;DQ904078;DQ904080;DQ904082;DQ904084;DQ904086;DQ904088;DQ904096;DQ904097;DQ904098;DQ904099;DQ904100;DQ904102;DQ904104;DQ904106;DQ904108;DQ904110;DQ904112;DQ904114;DQ904116;DQ904123;DQ904125;DQ904127;DQ904129;DQ904131;DQ904138;DQ904139;DQ904140;DQ904141;DQ904142;DQ904143;DQ904144;DQ904145;DQ904146;DQ904147;DQ904148;DQ904149;DQ904150;DQ904151;DQ904152;DQ904153;DQ904154;DQ904155;DQ904156;DQ904157;DQ904158;DQ904159;DQ904160;DQ904164;DQ904166;DQ904168;DQ904169;DQ904170;DQ904171;DQ904172;DQ904173;DQ904174;DQ904175;DQ904176;DQ904177;DQ904178;DQ904179;DQ904180;DQ904181;DQ904182;DQ904183;DQ904184;DQ904185;DQ904186;DQ904187;DQ904198;DQ904220;M75163;M75164;NG_012246;NM_000015;U23052;U23434;U53473;X14672 AAA59905;AAA59906;AAA64584;AAA64585;AAA98976;AAC03773;AAC14117;AAC14118;AAG34181;AAH15878;AAH67218;AAK51710;AAK51711;AAO73561;AAO73562;AAP81164;ABC26032;ABC26033;ABC26034;ABC26035;ABC26036;ABC26037;ABC26038;ABC26039;ABC26040;ABC26041;ABC26042;ABC26043;ABC26044;ABC26045;ABC26046;ABC26047;ABC26048;ABC26049;ABC26050;ABC26051;ABC26052;ABC26053;ABC26054;ABC26055;ABC26056;ABC26057;ABC26058;ABC26059;ABC26060;ABC26061;ABC26062;ABC26063;ABC26064;ABC26065;ABC26066;ABC26067;ABC26068;ABC26069;ABC26070;ABC26071;ABC26072;ABC26073;ABC26074;ABC26075;ABC26076;ABC26077;ABC26078;ABC26079;ABC26080;ABC26081;ABC26082;ABC26083;ABC26084;ABC26085;ABC26086;ABC26087;ABC26088;ABC26089;ABC26090;ABC26091;ABC26092;ABC26093;ABC26094;ABC26095;ABC26096;ABC26097;ABC26098;ABC26099;ABC26100;ABC26101;ABC26102;ABC26103;ABC26104;ABC26105;ABC26106;ABC26107;ABC26108;ABC26109;ABC26110;ABC26111;ABC26112;ABC26113;ABC26114;ABC26115;ABC26116;ABC26117;ABC26118;ABC26119;ABC26120;ABC26121;ABC26122;ABC26123;ABC26124;ABC26125;ABC26126;ABC26127;ABC26128;ABC26129;ABC26130;ABC26131;ABC26132;ABC26133;ABC26134;ABC26135;ABC26136;ABC26137;ABC26138;ABC26139;ABC26140;ABC26141;ABC26142;ABC26143;ABC26144;ABC26145;ABC26146;ABC26147;ABC26148;ABC26149;ABC26150;ABC26151;ABC26152;ABC26153;ABC26154;ABC26155;ABC26156;ABC26157;ABC26158;ABC26159;ABC26160;ABC26161;ABC26162;ABC26163;ABC26164;ABC26165;ABC26166;ABC26167;ABC26168;ABC26169;ABC26170;ABC26171;ABC26172;ABC26173;ABC26174;ABC26175;ABC26176;ABC26177;ABC26178;ABC26179;ABC26180;ABC26181;ABC26182;ABC26183;ABC26184;ABC26185;ABC26186;ABC26187;ABC26188;ABC26189;ABC26190;ABC26191;ABF01136;ABF01140;ABF01144;ABF01147;ABF01152;ABF01153;ABF01158;ABF01160;ABF01166;ABF01176;ABF01178;ABF01191;ABF01194;ABF01196;ABF01202;ABF01206;ABF01210;ABF01211;ABF01214;ABF01218;ABF01220;ABF01230;ABF01246;ABF01262;ABF01264;ABF01266;ABF01267;ABF01270;ABF01271;ABF01279;ABF01290;ABF01298;ABF01304;ABF01312;ABF01314;ABF01316;ABF01324;ABF01327;ABF01336;ABF01339;ABF01347;ABF01349;ABF01350;ABF01359;ABF01362;ABF01378;ABF01382;ABF01394;ABF01404;ABF01406;ABF01408;ABF01410;ABF01412;ABF01413;ABF01414;ABF01420;ABF01421;ABF01424;ABF01425;ABF01428;ABF01429;ABF01432;ABF01437;ABF01442;ABF01446;ABF01460;ABF01464;ABF01466;ABF01468;ABF01488;ABF01492;ABF01493;ABF01494;ABF01502;ABF01505;ABF01509;ABF01510;ABF01511;ABF01512;ABF01513;ABF01516;ABF01528;ABF01530;ABF01532;ABF01534;ABF01537;ABF01541;ABF01542;ABF01544;ABF01547;ABF01550;ABF01551;ABF01552;ABF01553;ABF01557;ABF01561;ABF01572;ABF01585;ABF01606;ABF01610;ABF01611;ABF01614;ABF01615;ABF01617;ABF01620;ABF01622;ABF01628;ABF01630;ABF01631;ABF01633;ABF01634;ABF01636;ABF01638;ABF01652;ABF01654;ABF01656;ABF01658;ABF01659;ABF01660;ABF01662;ABF51604;ABF57555;ABF57556;ABF57557;ABF57558;ABK34557;ABK34558;ABK34559;ABK34560;ABK34561;ABK34563;ABK34565;ABK34567;ABK34570;ABK34571;ABK34573;ABK34575;ABK34577;ABK34579;ABK34581;ABK34583;ABK34585;ABK34588;ABK34589;ABK34591;ABK34593;ABK34595;ABK34597;ABK34599;ABK34601;ABK34603;ABK34605;ABK34613;ABK34614;ABK34615;ABK34616;ABK34617;ABK34619;ABK34621;ABK34623;ABK34625;ABK34627;ABK34629;ABK34631;ABK34633;ABK34640;ABK34642;ABK34644;ABK34646;ABK34648;ABK34655;ABK34656;ABK34657;ABK34658;ABK34659;ABK34660;ABK34661;ABK34662;ABK34663;ABK34664;ABK34665;ABK34666;ABK34667;ABK34668;ABK34669;ABK34670;ABK34671;ABK34672;ABK34673;ABK34674;ABK34675;ABK34676;ABK34677;ABK34681;ABK34683;ABK34685;ABK34686;ABK34687;ABK34688;ABK34689;ABK34690;ABK34691;ABK34692;ABK34693;ABK34694;ABK34695;ABK34696;ABK34697;ABK34698;ABK34699;ABK34700;ABK34701;ABK34702;ABK34703;ABK34704;ABK34715;ABK34737;BAA01640;BAA01641;BAA01642;BAA14094;BAA14096;CAA32802;CAE46171;CAE46172;CAE46173;CAE46174;CAG28559;EAW63785;EAW63786;NP_000006;P11245 Hs.2 1722025;1741987;1743237;1743239;1744079;1793984;1796388;1848781;2146756 G06461;G59899;GDB:187676;GDB:310612;GDB:310613;GDB:386004;NAT2_957;PMC310725P3;WIAF-2120 AAC2;NAT-2;PNAT N-acetyltransferase type 2;NAT-2;OTTHUMP00000161399;OTTHUMP00000224593;arylamide acetylase 2;arylamine N-acetyltransferase 2;n-acetyltransferase-2;polymorphic arylamine N-acetyltransferase 2301749;2301750;2301751;2301752;2301753;2301754 PRSTS420_H;PRSTS421_H;PRSTS422_H;PRSTS423_H;PRSTS424_H;PRSTS425_H APPROVED protein-coding ENSG00000156006 7646 02000 243400;612182 REVIEWED 1606805 NAT9 N-acetyltransferase 9 (GCN5-related, putative) 17 17 17 q25.1 69359866 69365650 - 70278281 70284065 - 72766686 72772470 - 6480464 11256614;19139211;16381901;16169070;15761153;15489336;14608357;12477932;11230166;11076863;8125298;16944568;20031577;21900206;21906983 26151 J3KRQ7;J3KSE9;J3KT72;J3QL33;J3QLF4;J3QQJ2;J3QQP3;J3QQR6;J3QRC3;J3QRL7;J3QS35;J3QSG9;Q9BTE0 ABBA01028827;AC016888;AK123115;AK225602;AK308569;AK312958;AL050269;AMYH01008626;AY632082;BC004195;BC004225;CH471099;NM_015654 AAH04195;AAH04225;AAU25819;ACE86909;ACE87596;BAG35797;CAB43370;CAL37809;CAL38704;EAW89193;EAW89194;EAW89195;EAW89196;EAW89197;NP_056469;Q9BTE0 Hs.144058 DKFZp564C103;EBSP;EBSP, hNATL N-acetyltransferase 9;embryo brain specific protein;embryo brain-specific protein protein-coding ENSG00000109065 23133 13259 PROVISIONAL 6481436 NBEA-AS1 NBEA antisense RNA 1 100873971 AL161902 APPROVED miscrna 39908 1315590 NAV1 neuron navigator 1 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 1 1 1 q32.3 174741322 174919920 + 199884073 200061078 + 201617450 201796102 + 1580863;6480464 16344560;15158073;14702039;12477932;12421765;12079279;12062803;10574462;10574461;20936779;18029348;21832049;19322201;21963094;23251661 89796 H0Y6F6;H0YA94;H7BZD9;Q96II1 AB032977;AB033039;ABBA01027523;ABBA01027524;ABBA01027525;ABBA01027526;ABBA01027527;ABBA01027528;ABBA01027529;ABBA01027530;AC092800;AF086348;AJ251973;AJ488101;AK022622;AK022631;AK024265;AK056158;AK091567;AL133664;AL645504;AMYH01001643;AMYH01001644;AX034571;AY043013;BC007523;BC069250;BC117683;BP395555;BX648460;CH471067;CR936811;DA053418;DA166081;DA431858;NM_001167738;NM_020443 AAH07523;AAI17684;AAI56465;AAI72534;AAL05591;ADZ16071;BAA86465;BAA86527;BAB14136;BAB14142;BAB14865;BAG51635;CAB66088;CAC10130;CAD32470;CAH56487;EAW91372;EAW91373;EAW91374;NP_001161210;NP_065176;Q8NEY1 Hs.585374 1677724;1688993;1727873;1763397;1773675;1778155;1781668;1847759;1849210;2125685;2128016;2145978;2164943;2164945;2173412;2191039;2219978;5015861;5022651;5037552;7185938 A001Z35;AFMa070wf9;D10S16;D11S2921;D8S2279;G19824;G63353;HSC2EC122;MARC_13723-13724:1003151162:1;NAV1__6217;RH12478;RH93938;RH94308;SGC31803;SHGC-147114;SHGC-154974;SHGC-76139;SHGC-76147;SHGC-76148;T15894 DKFZp781D0314;FLJ12560;FLJ14203;KIAA1151;MGC14961;POMFIL3;STEERIN1;UNC53H1;steerin-1 OTTHUMP00000033914;OTTHUMP00000033915;OTTHUMP00000033917;neuron navigator 1;neuron navigator-1;pore membrane and/or filament interacting like protein 3;pore membrane and/or filament-interacting-like protein 3;unc-53 homolog 1 APPROVED protein-coding ENSG00000134369 15989 10113 611628 REVIEWED 6481358 NAV2-AS5 NAV2 antisense RNA 5 11 p15.1 19524219 19528776 - 12477932 100874012 ABBA01061037;AC023950;AMYH01003432;BC040220;NR_049725 Hs.434602 APPROVED miscrna ENSG00000255043 40740 VALIDATED 1347119 NBEAP1 neurobeachin pseudogene 1 15 15 q11.2 19134811 19221496 - 20874797 20961480 - 16572171;16344560;14702039;12160729;9159141 606 P0C6P0 ABBA01152427;ABBA01177132;AC012414;AC131280;AL832227;AMYH01006189;AMYH01006190;AMYH01006191;AMYH01006192;AMYH01006193;AMYH01006194;AMYH01006195;AMYH01006196;AMYH01006197;AMYH01006198;AMYH01006199;AMYH01006200;AMYH01006201;DA278599;NR_027992 P0C6P0 Hs.657985 1651687;1676382;1689716;1691014;1694728;1717475;1745163;5093178 G30964;G32566;GDB:595844;RH11274;RH121965;RH122243;RH67257;RH70587 BCL8;BCL8A APPROVED pseudo 1007 601889 VALIDATED 5131736 NBEAP2 neurobeachin pseudogene 2 2 2 126210419 126219705 + 132485649 132494259 + 12160729 100418881 ABBA01028227;AC093724;AMYH01011104;NG_023729 BCL8D pseudo 40003 INFERRED 5131737 NBEAP3 neurobeachin pseudogene 3 22 16101279 16124973 - 12160729 100418905 AMYH01012349;AMYH01012350;AMYH01012351;AMYH01012352;AP000523;NG_027403 BCL8C pseudo 40004 INFERRED 5131802 NBEAP4 neurobeachin pseudogene 4 15 21893078 21903057 - 100418897 ABBA01204053;AC068446;AMYH01006306;NG_025284 pseudo 40009 INFERRED 5131801 NBEAP5 neurobeachin pseudogene 5 14 19833377 19857070 - 100418903 AL589182;AL589743;NG_027242 pseudo 40010 INFERRED 5131800 NBEAP6 neurobeachin pseudogene 6 14 19718326 19742038 + 100418904 AL589743;NG_027320 pseudo 40011 INFERRED 1323716 NBEA neurobeachin This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011] 13 13 13 q13 16583420 17313776 + 34414456 35144873 + 35516424 36246874 + 1580863;6480464 17474147;19135901;19086053;14702039;12746398;12234919;12160729;11102458;10997877;10501977;16169070;19913121;20628086;15188402;16344560;20041166;20200978;8889548;23022380;22869583;17043677;21139048;21906983;22438821;22745750 26960 B3KXQ8;F5GXV7;Q5T321;Q8NFP9 AB046764;ABBA01010166;ABBA01010167;ABBA01010168;ABBA01010169;ABBA01010170;AF072371;AF467288;AK001059;AK091469;AK122888;AK127791;AK294737;AK297773;AK315939;AL137748;AL138690;AL139083;AL159160;AL161718;AL161902;AL356430;AL357083;AL390071;AMYH01005033;AMYH01005034;AMYH01005035;AMYH01005036;BU736721;BX640760;CH471075;DA248291;NG_028156;NM_001204197;NM_015678 AAD41633;AAI72597;AAM53531;BAA91485;BAB13370;BAG52368;BAG53781;BAG54570;BAH11865;BAH12663;BAH14310;CAB70903;CAE45866;EAX08541;EAX08542;EAX08543;EAX08544;EAX08545;NP_001191126;NP_056493;Q8NFP9 Hs.491172 1646137;1676468;1714397;1723829;1729940;1782980;1797076;2108223;2132838;2132840;2177716;2187261;5017931 A001W40;AU151351;D13S127;D13S758;G09543;G19728;MAB21L1_8448;Nbea;RH118650;RH120191;RH80830;SHGC-81512;T03409 BCL8B;LYST2 OTTHUMP00000018239;lysosomal trafficking regulator 2;lysosomal-trafficking regulator 2;neurobeachin APPROVED protein-coding ENSG00000172915 7648 05352 604889 REVIEWED 1320655 NAV2 neuron navigator 2 This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p15.1 19505019 20275779 + 19691488 20099723 + 19372271 20143147 + 1580863;6480464 17081983;16964243;16189514;15489334;15158073;15031288;14702039;12477932;12214280;12168954;12079279;12062803;11904404;10737800;10718198;8889549;18029348;18937294;20379614;20936779;22174851;23251661 89797 A7E2D6;E9PLU3;E9PNV5;Q9P2C8 AA451836;AB037840;AB063115;AB063116;ABBA01061034;ABBA01061035;ABBA01061036;ABBA01061037;AC009549;AC015684;AC023950;AC090662;AC111163;AC113193;AF466143;AF466144;AJ488102;AJ488202;AJ488203;AJ488204;AJ488205;AJ488206;AJ488207;AJ488208;AK001892;AK074287;AK096037;AK290458;AK298346;AK307574;AMYH01003432;AMYH01003433;AMYH01003434;BC016054;BC107690;BC150290;BE818973;BI831180;BX459843;BX485661;CH471064;NG_030347;NM_001111018;NM_001111019;NM_001244963;NM_145117;NM_182964;R23148 AAH16054;AAI50291;AAL96479;AAL96480;ADZ15515;BAA91965;BAA92657;BAB85038;BAC00853;BAC00854;BAF83147;BAH12762;CAD32471;CAD32555;CAD32556;CAD32557;CAD32558;CAD32559;CAD32560;CAD32561;EAW68343;EAW68344;EAW68345;EAW68346;EAW68347;EAW68348;NP_001104488;NP_001104489;NP_001231892;NP_660093;NP_892009;Q8IVL1 Hs.502116;Hs.639427;Hs.639428;Hs.64341 1336099;1336379;1338701;1644234;1646184;1662887;1674610;1678691;1679980;1681189;1698436;1698508;1712959;1715703;1719581;1720501;1727083;1728335;1737133;1737229;1737609;1737667;1738007;1743245;1754885;1757281;1764373;1767999;1774940;1778308;1782458;2124036;2129546;2141207;2151974;2154014;2154398;2165195;2169852;2172762;2179399;2186305;2187269;5121165;7183720;7186008 1654;D11S1034;D11S1062;D11S1075;D11S1308;D11S2034;D11S2296E;D11S2970;D11S3091;D11S3201;D11S3272;D11S3611;D11S4010;D11S4106;D11S4273;D11S899;G09854;G59204;G62943;G63449;GDB:312742;RH102763;RH102804;RH119298;RH120569;RH123694;RH12576;RH15864;RH26949;RH36118;RH45581;RH65895;RH70190;RH70750;RH79583;RH91544;SHGC-141815;SHGC-144693;SHGC-147968;SHGC-155714;SHGC-31021;SHGC-33456;STS-R52158;WI-12433 FLJ10633;FLJ11030;FLJ23707;FLJ77876;HELAD1;KIAA1419;POMFIL2;RAINB1;STEERIN2;UNC53H2 OTTHUMP00000200626;OTTHUMP00000200627;OTTHUMP00000200628;OTTHUMP00000231897;OTTHUMP00000232947;helicase APC down-regulated 1;helicase, APC down-regulated 1;neuron navigator 2;pore membrane and/or filament interacting like protein 2;pore membrane and/or filament-interacting-like protein 2;retinoic acid inducible gene in neuroblastoma 1;retinoic acid inducible in neuroblastoma 1;steerin-2;unc-53 homolog 2 APPROVED protein-coding ENSG00000166833 15997 07385 607026 REVIEWED 1604810 NBAS neuroblastoma amplified sequence This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012] 2 2 2 p24 15224679 15619170 - 15224483 15618905 - 15307032 15701472 - 6480464 17028906;14702039;12706883;12477932;11954550;11329013;9926938;20577004;16169070;19369418;19407829;20379614;20585324;21697133;20360068;21139048;21906983 51594 A2RRP1;C9JCM7;G1UI26;H0Y5G7;H7BZR3;H7BZU5;H7C007;H7C1U4;H7C1Y9 AB621813;ABBA01015679;ABBA01015680;AC007738;AC008278;AC008282;AC074184;AF056195;AF388385;AK057915;AK097726;AK126995;AL050281;AL832774;AL833270;AMYH01010130;AMYH01010131;AMYH01010132;BC040345;BC051792;BC108693;BC131735;BG195182;BQ878688;CH471053;HM243531;HM243532;NG_032964;NM_015909;NR_052013 A2RRP1;AAD18133;AAH51792;AAI08694;AAI31736;AAM93544;AAX88878;AAY24347;BAK64149;CAB43382;EAX00900;EAX00901;EAX00902;EAX00903;NP_056993 Hs.467759 1661088;1667131;1671605;1687307;1704864;1710618;1739889;1788444;1851402;2122729;2161775;5015961;5109281 B313ZH5;D15S1477;D15S954;D1S1425;D2S1968;D2S2118;D3S3825;HSC08G032;RH12241;RH66856;SHGC-79906;SHGC-84097;fj17b01.x1 DKFZp586G1219;FLJ40407;NAG;SOPH NAG/BC035112 fusion;NAG/FAM49A fusion;OTTHUMP00000149964;neuroblastoma-amplified gene protein;neuroblastoma-amplified protein;neuroblastoma-amplified sequence protein-coding ENSG00000151779 15625 10473 608025;614800 REVIEWED 1314915 NAV3 neuron navigator 3 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] 12 12 12 q14.3 77890812 78272363 + 76749200 77130921 + 78225069 78606790 + 1580863;6480464 18509363;18337827;15158073;14702039;12477932;12079279;12062803;10231032;8889548;19505873;19913121;20628086;20936779;19626031;20379614;20707712;23097141;19850743;21995814;22173670 89795 B4DH94;E7EUA9;E7EUC6;F8VZV4;H0YHA8;H0YHX7;H0YI04;H0YI14;Q8IVL0 AB023155;ABBA01053525;ABBA01053526;ABBA01053527;ABBA01053528;AC073571;AC073608;AC078822;AC090020;AC138331;AF397731;AJ488201;AK022070;AK294988;AK298525;AMYH01004608;BC017667;BM684673;CH471054;NM_014903 AAH17667;AAI56504;AAI72529;AAM73757;BAA76782;BAG58055;BAG60728;CAD32554;EAW97341;EAW97342;NP_055718;Q8IVL0 Hs.655301 1646547;1699948;1726395;1734650;1739383;1782688;1782692;1782788;2111001;2126511;2160390 D12S1376E;D12S2006;D12S277E;D19S653E;G62498;L17987;RH103582;RH46017;SHGC-154971;SHGC-155034;SHGC-79622 KIAA0938;POMFIL1;STEERIN3;unc53H3 OTTHUMP00000242595;OTTHUMP00000242596;OTTHUMP00000242598;neuron navigator 3;pore membrane and/or filament interacting like protein 1;pore membrane and/or filament-interacting-like protein 1;steerin 3;steerin-3;unc-53 homolog 3 APPROVED protein-coding ENSG00000067798 15998 10114 611629 VALIDATED 1349211 NBEAL1 neurobeachin-like 1 2 2 2 q33.2 197632559 197835669 + 203708718 203790962 + 203879602 204082717 + 6480464 16344560;15193433;14702039;12477932;11586298;10737800;21139048;23251661 65065 H7BZA0;H7C3C8;Q6ZS30 AB053318;AB053319;ABBA01062593;ABBA01062594;ABBA01062595;ABBA01062596;ABBA01062597;ABBA01062598;ABBA01062599;ABBA01062600;ABBA01062601;ABBA01062602;AC010900;AC011737;AC023271;AK127772;AK128636;AK130065;AMYH01011415;AMYH01011416;AW028696;AW809287;AY172970;BC132950;BC137214;BC144532;BC144533;BX647133;CV310362;DA701100;DR731376;DV080127;DV080228;DV080354;DV080456;NM_001114132 AAI32951;AAI37215;AAI66673;AAO45288;BAB69026;BAB69027;BAC85289;BAC87125;BAC87543;NP_001107604;Q6ZS30 Hs.648846 1728879;1754631;2106417;2116037;2120246;2129194 ALS2CR17__4287;G54495;RH68899;RH69596;SHGC-132979;SHGC-58274 A530083I02Rik;ALS2CR16;ALS2CR17;FLJ22838;FLJ26555;MGC164581;MGC168834 OTTHUMP00000205117;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein;beach;neurobeachin-like protein 1 protein-coding ENSG00000144426 20681 14811 609816 VALIDATED 1604049 NBEAL2 neurobeachin-like 2 The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] 3 3 3 p21.31 46959687 46989710 + 46996177 47026197 + 47021173 47051194 + 6480464 19367581;14702039;12975309;12477932;9628581;21765411;21765412;21765413;21963094;21906983;22505724 23218 H0Y764;H7C354;H7C3Y7;H7C408;Q6ZNJ1 AB011112;ABBA01024708;AC094020;AK074036;AK092871;AK131104;AK293387;AK301269;AMYH01013139;AMYH01013140;AY358455;BC029944;BC035894;BC060874;BQ017286;CR988681;NG_031914;NM_015175 AAH60874;AAQ88820;BAA25466;BAB84862;BAC03994;BAC85154;BAG56897;BAG62832;NP_055990;Q6ZNJ1 Hs.437043 5107293 G66597 BDPLT4;GPS;KIAA0540 OTTHUMP00000209976;OTTHUMP00000209977;neurobeachin-like protein 2 APPROVED protein-coding ENSG00000160796 31928 139090;614169 REVIEWED 2302123 NBPF11 neuroblastoma breakpoint family, member 11 1 q21.1 146042424 146076705 - 16079250;12477932 728912 B7WNR1;F6WGW4;H0Y3T2;H7BYX2;Q5RGN0;Q86T75 AK302413;AL832622;BC136292;BX842679;NM_001101663 AAI36293;BAH13700;CAD89962;CAI23637;NP_001095133;Q5RGN0;Q86T75 Hs.515947;Hs.676059 DKFZp451B1418 protein-coding 31993 614001 1603453 NBPF12 neuroblastoma breakpoint family, member 12 1 1 q21.1 144926050 144934268 + 144926050 144934268 + 16079250;9110174;8619474 440675 AF131738;AL040349;AL139152;XM_001715810 AAD20027;CAI22485;Q5TAG4;XP_001715862 Hs.666981;Hs.721588 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 neuroblastoma breakpoint family, member 12 protein-coding 31994 608607 1604341 NBPF1 neuroblastoma breakpoint family, member 1 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 p36.13 16762989 16812569 - 16890412 16939982 - 6480464 16079250;14702039;12477932;11214970;7700633;20096688;23314748;21906983;22973535 55672 Q3BBV0;Q8IX87 AB051480;ABBA01172455;AF379607;AF379611;AF379612;AF379613;AF379614;AF379615;AF379617;AF379618;AF379619;AF379620;AF379621;AF379623;AF379624;AF379627;AF379628;AK055895;AK123260;AL137798;AL355149;AMYH01000282;AY894575;AY894576;AY894577;AY894578;AY894579;AY894580;AY894581;AY894585;BC010124;BC013805;BC034418;BC066930;BC093404;BC094705;BC110431;DA320506;NM_017940 AAH34418;AAH94705;AAI69316;AAI69317;AAI69318;AAO15387;AAO15389;AAO15390;AAO15392;AAO15393;AAO15395;AAO15396;AAO15407;AAX85114;AAX85115;AAX85116;AAX85117;AAX85118;AAX85119;AAX85120;AAX85123;ADZ15902;BAB21784;NP_060410;Q3BBV0 Hs.467587;Hs.523572;Hs.714127;Hs.721588;Hs.732082;Hs.732154 1701638;1747979;2118252;2126232;2138529;2146928;5016673;5018987;5019571;5024644;5094058;5113988;5119126;5124401 AL033815;AU047468;D1S1852E;D1S2290;G34947;G66851;RH104463;RH26196;RH26229;RH35838;RH66976;RH68104;SHGC-57369;SHGC-74279 AB13;AB14;AB23;AD2;FLJ20719;KIAA1693;NBG;NBPF hypothetical protein LOC55672;neuroblastoma breakpoint family member 1 APPROVED protein-coding 26088 07946 610501 REVIEWED 1606849 NBPF13P neuroblastoma breakpoint family, member 13, pseudogene This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 1 q21.1 122388579 122428439 + 145022915 145062992 - 146556391 146596268 - 16079250;16712791;22973535;21502085 644861 ABBA01004397;ABBA01004398;AC241584;AL596177;AMYH01001373;BX336604;CB154168;NR_103466 1692420;1708302 AL033859;SHGC-79181 APPROVED pseudo 31995 REVIEWED 736912 NBL1 neuroblastoma 1, DAN family BMP antagonist This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013] 1 1 p36.13 19842313 19857532 + 19969723 19984949 + 1580863;6480464 16344560;15528323;15489334;12477932;12150978;11594460;11134349;10208746;9831647;9516839;9324305;9303440;8609050;8084583;7777541;7633401;10390159;19995712;21743959;8385338 4681 A3KFI1;A3KFI2;A3KFI3;A3KFI4;A3KFI5;E5RFZ1;P41271 ABBA01059765;ABBA01059766;AK292101;AK300872;AK309257;AK313265;AL031727;AL703187;AMYH01000316;AMYH01000317;AY049783;BC012037;BM988954;BQ671197;BT019423;CH471134;D28124;D89013;DA384331;DA921297;DA924824;DA929341;DB016315;DB253522;DB482000;HY084536;NM_001204084;NM_001204085;NM_001204086;NM_001278164;NM_001278165;NM_001278166;NM_005380;NM_182744 AAH12037;AAL15440;AAV38230;BAA05671;BAA92265;BAF84790;BAG36074;BAG62517;EAW94894;EAW94895;NP_001191013;NP_001191014;NP_001191015;NP_001265093;NP_001265094;NP_001265095;NP_005371;NP_877421;P41271 Hs.654502 1734500;1740599;2154034;2157218;5017510 D1S1733E;D1S1764E;NBL1;RH68234;RH68284 D1S1733E;DAN;DAND1;MGC8972;NB;NO3 DAN domain family member 1;OTTHUMP00000002787;OTTHUMP00000195027;OTTHUMP00000195028;OTTHUMP00000195029;OTTHUMP00000195030;OTTHUMP00000195031;OTTHUMP00000195032;OTTHUMP00000195033;differential screening-selected gene aberrant in neuroblastoma;neuroblastoma candidate region, suppression of tumorigenicity 1;neuroblastoma suppressor of tumorigenicity 1;neuroblastoma, suppression of tumorigenicity 1 APPROVED protein-coding ENSG00000158747 7650 09001 600613 REVIEWED 1603883 NBPF11 neuroblastoma breakpoint family, member 11 1 1 q21.1 144743899 144779602 - 146032542 146082633 - 6480464 16079250;14702039;7700633;12477932;20096688;21906983;23314748 200030 B7WNR1;H0Y3T2;H7BYX2;Q86T75 AF379606;AF419617;AK054850;AL049742;AL356004;AMYH01001373;BC136292;BI552657;BX648497;NM_183372 AAI36293;AAO15406;CAI17086;CAI21822;NP_899228;Q86T75 Hs.721588;Hs.744018 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 OTTHUMP00000213003;OTTHUMP00000213005;hypothetical protein LOC200030;neuroblastoma breakpoint family member 11;neuroblastoma breakpoint family, member 11 APPROVED protein-coding ENSG00000152042 31993 14123 614001 VALIDATED 1606367 NBPF17P neuroblastoma breakpoint family, member 17, pseudogene 1 1 1 q21.2 121392543 121449780 + 147292156 147356842 - 149025632 149090118 - 16079250 401967 ABBA01010827;AC239800;AC242799;AL732363;AMYH01001371;NG_033263 1678831;1692228;1771236 AL009535;AL033772;RH64676 APPROVED pseudo 31997 INFERRED 1603448 NBPF18P neuroblastoma breakpoint family, member 18, pseudogene This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 1 1 1 q21.3 125101447 125111285 + 150253335 150263373 + 151986812 151996650 + 16079250 441908 ABBA01049409;AF379625;AL110415;AL450992;AMYH01001395;NR_103561 1757335 SHGC-144740 APPROVED pseudo 31998 REVIEWED 1602376 NBPF19 neuroblastoma breakpoint family, member 19 q21.1 16079250 641589 AC026900 neuroblastoma breakpoint family, member 19 protein-coding 31999 614006 1602233 NBPF16 neuroblastoma breakpoint family, member 16 1 1 q21.2 147006066 147024935 + 148739442 148758311 + 16710414;16344560;16079250;15489335;21906983 728936 Q5SXJ2;Q8IX71 AF380581;AL592492;AMYH01001373;CV024999;DA932476;DB185273;DC372755;ES313907;NM_001102663 AAO15404;CAI16654;NP_001096133;Q5SXJ2 Hs.523572;Hs.534675;Hs.714127 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 AG3 OTTHUMP00000038386;hypothetical protein LOC728936;neuroblastoma breakpoint family member 16 protein-coding ENSG00000203827 31996 614005 VALIDATED 1606426 NBPF21P neuroblastoma breakpoint family, member 21, pseudogene This pseudogene on chromosome 3 is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 3 3 3 p22.2 36600253 36622041 - 36632406 36654394 - 36657501 36679289 - 16079250;22973535 205655 ABBA01024870;AC098648;AMYH01013083;NG_005549 APPROVED pseudo 32001 REVIEWED 1604034 NBPF14 neuroblastoma breakpoint family, member 14 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 q21.1 146470266 146492472 - 148003642 148025848 - 9110174;16079250;14702039;21502085;8619474;23314748;22973535;21906983 25832 F5H8K7;H0Y649;J3KNG7;Q5TI25 ABBA01004244;AC239811;AF161426;AF379626;AF379631;AK095459;AK294944;AL022240;AL117237;AMYH01001347;AY894582;AY894583;NM_015383;XM_003846383;XM_003846535;XM_003960946 AAF28986;AAO15394;AAO15399;AAX85121;AAX85122;BAG58020;CAB55305;CAI20179;CAI20180;CAI20181;CAI20182;CAI20183;CAI20184;CAI20185;CAI20186;NP_056198;Q5TI25;XP_003846431;XP_003846583;XP_003960995 Hs.534675;Hs.714127 5016673;5016954;5018987;5094058 AL033815;G34947;RH66976;RH80466 DJ328E19.C1.1;FLJ35032;FLJ60520;NBPF;RP3-328E19.1 AE5;OTTHUMP00000015812;hypothetical protein LOC25832;neuroblastoma breakpoint family member 14 protein-coding ENSG00000122497 25232 13148 614003 REVIEWED 2311153 NBPF23 neuroblastoma breakpoint family, member 23 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] q21.2 19536264 100302292 AC239800;AC242799;BQ431323;GQ131873;NR_103751 Hs.575982 neuroblastoma breakpoint family, member 23 pseudo 37075 612970 VALIDATED 1606651 NBPF2P neuroblastoma breakpoint family, member 2, pseudogene This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 p36.12 21622088 21627140 - 21749601 21754453 - 16079250;22973535 343381 ABBA01059811;AL592309;AMYH01000333;NG_005533 APPROVED pseudo 31987 REVIEWED 1603454 NBPF10 neuroblastoma breakpoint family, member 10 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 q21.1 144003577 144021793 + 145293371 145368684 + 6480464 18187866;16710414;16079250;15489334;14702039;12477932;21906983;23314748 100132406 A6NDV3;Q3BBW0;Q5VTG6;Q5VTG7;Q5VTG8;Q6P3W6 ABBA01011507;AC239799;AF379616;AF379632;AF379634;AF379635;AF380580;AF380582;AF419616;AK000726;AK125792;AL050141;AL592307;AMYH01001373;AY894565;BC021111;BC063799;BX538005;NM_001039703 AAH63799;AAI48332;AAO15388;AAO15400;AAO15403;AAO15405;AAO15442;AAX85104;BAA91343;CAH73995;CAH73996;CAH73997;NP_001034792;Q3BBW0;Q6P3W6 Hs.714127;Hs.721588 5016673;5016954;5018987;5019571;5022651;5094058;5119126 AL033815;AU047468;D11S2921;D1S2290;G34947;RH66976;RH80466 AB6;AG1;DKFZp564A057;DKFZp586O031;DKFZp686C1532;FLJ20719;FLJ35032;FLJ43804;FLJ55807;MGC182975;NBPF9 neuroblastoma breakpoint family member 10 protein-coding ENSG00000163386 31992 614000 REVIEWED 1604742 NBPF12 neuroblastoma breakpoint family, member 12 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 q21 146401706 146466121 + 6480464 12477932;11948409;10574462;9110174;8619474;23314748;16079250;21906983;22973535 149013 C9JC86;F5GXN6;F8WEB0;F8WEX1;H0Y664;H7BZX4;Q5TAG4 AB033071;ABBA01009911;ABBA01009912;AC244394;AF131738;AL040349;AL139152;AL359176;AMYH01001373;NM_001278141;XM_003119146;XM_003846733;XM_003960049;XM_003960050;XM_003960051;XM_003960052;XM_003960053;XM_003960054;XM_003960055;XM_003960056;XM_003960057;XM_003960194;XM_003960219;XM_003960220;XM_003960221;XM_003960222;XM_003960223;XM_003960224;XM_003960225;XM_003960226;XM_003960227 AAD20027;BAA86559;CAI22485;NP_001265070;Q5TAG4;XP_003119194;XP_003846781;XP_003960098;XP_003960099;XP_003960100;XP_003960101;XP_003960102;XP_003960103;XP_003960104;XP_003960105;XP_003960106;XP_003960243;XP_003960268;XP_003960269;XP_003960270;XP_003960271;XP_003960272;XP_003960273;XP_003960274;XP_003960275;XP_003960276 Hs.666981;Hs.721588 COAS1;DKFZp434O1213;KIAA1245 KIAA1245;chomosome one amplified sequence 1 cyclophilin;chromosome 1 amplified sequence 1;hypothetical protein LOC149013;neuroblastoma breakpoint family member 12;neuroblastoma breakpoint family, member 12;uncharacterized protein LOC149013 APPROVED protein-coding 24297 608607 REVIEWED 1348611 NBN nibrin Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008] 8 8 q21 91014740 91066075 - 90945564 90996899 - 1580863;1600219;2298994;2298992;2298995;2298993;2298991;6480464;6907045 9590180;16424057;17899368;14973119;17337132;17932350 12433983;9258347;19714462;17957789;17898048;17894553;17765870;17715134;17700070;17695489;17694070;17693401;17685459;17612497;17557904;17544403;17537595;17534377;17526493;17496786;17486112;17485521;17476281;17442057;17431132;17384674;17333333;17219051;17169801;17078101;17034901;17030982;16998789;16972754;16964243;16936774;16905549;16877808;16788144;16770759;16752129;16728435;16714331;16702373;16638864;16478990;16474176;16467875;16428493;16415040;16392640;16343742;16309973;16214912;16195237;16188882;16163361;16152606;16036916;16033915;16002061;15980987;15965469;15937485;15921821;15914210;15790808;15758953;15746160;15734743;15733840;15653682;15616588;15578693;15493328;15489334;15338273;15302935;15279809;15279770;15234984;15201865;15185344;15180989;15064416;15048089;15026416;15024084;15010895;14988723;14745549;14702039;14688016;14684699;12972939;12955071;12917199;12883362;12861053;12845677;12833396;12833146;12750284;12679336;12660252;12637527;12607005;12588868;12508248;12505263;12485469;12477932;12447395;9590181;11486038;12529385;10766245;11438675;11448772;18029348;10888888;12447371;12419185;19523210;19393249;19393077;19383352;19338747;19338682;19244322;19244116;19197236;19151620;19126654;19124506;19116388;19074885;19064572;19064565;18950845;18949738;18940477;18835245;18830935;18830263;18829552;18793719;18768505;18763866;18723444;18701435;18691878;18678890;18676680;18664457;18644472;18638378;18632984;18627000;18596698;18593981;18583988;18582474;18582154;18579371;18575580;18568448;18562516;18469862;18411307;18394656;18328813;18280732;18270679;18270339;18234271;18073374;18056440;18049891;18040525;18025084;18003706;17981542;12353271;12124628;12082606;12036913;12023982;11877377;11809878;11325820;11238951;11110662;10913111;10839545;10839544;10802669;10783165;10426999;9933573;9705271;9620777;9199571;9042920;8125298;18458108;11504724;14519663;12792649;10608806;8870681;8170997;15916964;17500065;17507690;21130714;20600238;20682289;11252893;15456891;16051665;19170196;19270065;19536092;19573080;19584272;19586055;19597347;19597488;19609304;19625176;19629396;19635536;19661089;19683501;19690177;19692168;19706757;19772428;19773279;19789190;19804755;19804756;19862546;19904603;19908051;19910469;19917125;19950226;20003485;20004634;20010693;20150366;20232390;20379614;20453000;20453309;20478923;20496165;20522537;20471956;20224574;21108945;16872911;16932743;20143155;20729302;20731661;20734064;20813000;20921278;20175780;20571895;20610542;20634891;20644561;20720310;12607003;18710941;19394292;20301355;22752646;22939629;20975951;19151086;21208456;21325134;21166880;22941933;22430443;23115235;23145133;20460517;18001825;21187428;20070254;22851427;23368512;21656575;21436738;21816818;22114071;23458873;21139048;21890473;21906983;16391231;21884979;21889209;21987080;22131123;22413803;22491912;22565321;15377652;22070649;22161642;21472885;22464731;18541670;21676867;21811815;18171670;23317186;22864661;23381647;23468639;12470659;21282530;23149842;19164952;19177012;22505724;22631660;23525106;22927831;21215087;22740413 4683 E2QRP0;E5RGN7;E5RGR7;E5RGU1;O60934 AB013139;ABBA01037402;AF051334;AF058696;AF069291;AK001017;AK223256;AK289848;AK312410;AMYH01018873;AY566246;BC005293;BC016762;BC040519;BC071590;BC108650;BC136802;BC136803;BC144413;BC146797;BX640816;CH471060;CQ978987;NG_008860;NM_002485 AAC39732;AAC39752;AAC62232;AAH16762;AAI08651;AAI36803;AAI36804;AAI43066;AAI43067;AAI46798;AAS59158;BAA28616;BAD96976;BAF82537;BAG35323;CAH56160;CAI45369;EAW91660;EAW91661;NP_002476;O60934 Hs.492208 1661022;1671792;1710640;1716919;1721211;1722049;1723983;1748323;1748325;1748327;1748329;1748331;1748333;1748335;1748337;1795062;2186365 A004N06;G59446;G59911;G66920;G66921;G66922;G66923;G66924;G66925;G66926;G66927;PMC96138P1;RH118942;RH121752;SHGC-36208;SHGC-84116;WI-18046 AT-V1;AT-V2;ATV;FLJ10155;MGC87362;NBS;NBS1;P95 Nijmegen breakage syndrome 1 (nibrin);OTTHUMP00000204086;OTTHUMP00000204088;cell cycle regulatory protein p95;nibrin;nijmegen breakage syndrome protein 1;p95 protein of the MRE11/RAD50 complex APPROVED protein-coding ENSG00000104320 7652 04050 602667 REVIEWED 1626600 NBPF22P neuroblastoma breakpoint family, member 22, pseudogene This transcribed pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013] 5 5 5 q14.3 81478296 81485010 + 85614018 85629118 + 85578262 85593365 + 16079250;12477932;11181995;23251661 285622 ABBA01062110;ABBA01062111;AC020923;AK308274;AMYH01015467;BC050328;CH879424;NR_003719 EAW50392 Hs.449272 MGC48637 APPROVED pseudo 28731 REVIEWED 1602958 NBPF7 neuroblastoma breakpoint family, member 7 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] 1 1 1 p12 118608089 118618486 - 120178911 120189302 - 120377388 120387779 - 16079250 343505 P0C2Y1 ABBA01068518;AL359752;AMYH01000980;NM_001047980 AAI56111;AAI56967;NP_001041445;P0C2Y1 Hs.647677 hypothetical protein LOC343505;putative neuroblastoma breakpoint family member 7 protein-coding 31989 613997 REVIEWED 1603863 NBPF15 neuroblastoma breakpoint family, member 15 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013] 1 1 1 q21.2 120061785 120081106 + 146827614 146862782 + 148558188 148596267 + 16079250;14702039;12477932;16344560;22973535;21906983 284565 Q8IX61;Q8N660 AC246785;AF379630;AF420437;AK097180;AK290142;AK290302;AK299360;AL954711;AMYH01001371;AY894566;BC023087;BQ890458;DB300232;NM_001170755;NM_173638 AAH23087;AAO15398;AAO15443;AAX85105;BAF82831;BAF82991;BAG61355;CAM22821;NP_001164226;NP_775909;Q8N660 Hs.523572;Hs.656782 5016673;5016954;5018987;5022651;5094058 AL033815;D11S2921;G34947;RH66976;RH80466 AB14;FLJ59046;FLJ78393;MGC8902 OTTHUMP00000082400;hypothetical protein LOC284565;neuroblastoma breakpoint family member 15 protein-coding ENSG00000243452 28791 14710 610414 REVIEWED 1605785 NBPF20 neuroblastoma breakpoint family, member 20 1 q21.1 146618473 146713553 - 6480464 16079250;15252450;14702039;12477932 400818 A2BH96;B4DG53;F5H1Q5;Q3BBV1 AF419618;AF419619;AK095030;AK294414;AL138796;AL592284;AY894574;BC027348;BC071995;BC094841;BX546486;DQ786323;NM_001037675 AAI67783;AAX85113;BAG57664;CAI16968;CAI16969;CAM23768;NP_001032764;Q3BBV1 Hs.515947;Hs.534675 FLJ37711;FLJ60244;KIAA1245;NBPF10 protein-coding 32000 613999;614007 1603519 NBPF5P neuroblastoma breakpoint family, member 5, pseudogene 1 1 p13.3 108719931 108730045 + 108918741 108926235 + 6480464 16079250;12477932;15489334 100507044 Q86XG9 AMYH01000906;BC043522;BX323851;BX649306;NG_028895 AAH43522;Q86XG9 DKFZp434D177-like;NBPF5;RP11-242D10.1 neuroblastoma breakpoint family, member 5 APPROVED pseudo 24491 613995 VALIDATED 2302827 NBPF4 neuroblastoma breakpoint family, member 4 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013] 1 1 1 p13.3 106940668 106941075 - 108567850 108588239 - 108765963 108786703 - 16079250;14702039;12477932 148545 B7ZAX3;Q96M43 ABBA01028419;ABBA01153475;AK057395;AK302318;AK316438;AL359258;AMYH01000888;AMYH01000889;AMYH01000890;AMYH01000891;AMYH01000892;BC125162;CH471156;DC402863;HC007180;NM_001143989 AAI25163;BAB71469;BAG63656;BAH14809;CBH19395;EAW51256;NP_001137461;Q96M43 Hs.511849 FLJ32833 OTTHUMP00000013058;neuroblastoma breakpoint family member 4;neuroblastoma breakpoint family, member 4 protein-coding ENSG00000196427 26550 08144 613994 REVIEWED 1604276 NBPF3 neuroblastoma breakpoint family, member 3 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013] 1 1 1 p36.12 20088794 20143634 + 21639218 21683980 + 21766621 21811393 + 6480464 18940312;17391723;16381901;16189514;16079250;15489336;15334068;12477932;11230166;11076863;9587054;14702039;19303062;20558539;21832049;16344560;22001757;21906983;22797925 84224 B3KTI0;Q8IX78 ABBA01059816;ABBA01059817;AF379629;AK095602;AK098438;AK292580;AK299840;AK314597;AL136890;AL592309;AL834330;AMYH01000334;AMYH01000335;AMYH01000336;AY598326;AY894564;BC024011;BI909818;CH471134;DB071146;NM_001256416;NM_001256417;NM_032264;NR_046176 AAH24011;AAI46689;AAO15397;AAT06737;AAX85103;BAF85269;BAG53092;BAG61704;CAB66824;CAD38998;CAL37902;EAW94971;EAW94972;EAW94973;NP_001243345;NP_001243346;NP_115640;Q9H094 Hs.325422 1701638;2118252;5016673;5094058 G34947;RH104463;RH66976;SHGC-74279 AE2;DKFZp434D177;RP11-293F5.5 OTTHUMP00000002964;OTTHUMP00000002965;OTTHUMP00000002966;neuroblastoma breakpoint family member 3;neuroblastoma breakpoint family, member 3;protein SHIIIa4 protein-coding ENSG00000142794 25076 10633 612992 REVIEWED 1602598 NBPF6 neuroblastoma breakpoint family, member 6 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013] 1 1 p13.3 108794433 108814783 + 108992904 109013260 + 16079250;12477932;22973535 653149 A4QN25;E9PDL3;F8WBA8;Q5VWK0 ABBA01156222;AL390038;AL392088;BC125161;BX323851;NM_001143987;NM_001143988 AAI25162;NP_001137459;NP_001137460;Q5VWK0 Hs.712226 1649681;1670937;1670939;1680763;1720377 A005T36;G20488;RH123940;RH36018;SHGC-75245 OTTHUMP00000178983;OTTHUMP00000233751;neuroblastoma breakpoint family member 6;neuroblastoma breakpoint family, member 6 protein-coding ENSG00000186086 31988 613996 REVIEWED 1605145 NBPF8 neuroblastoma breakpoint family, member 8 This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013] 1 1 q21.1 142858005 142935570 + 144149819 144224264 + 16079250;12477932;21906983;22901949;22973535;23314748 728841 Q3BBV2;Q5U227 AC241952;AL049742;AL356004;AMYH01000980;AMYH01001373;AY894561;AY894562;AY894563;AY894567;AY894568;AY894569;AY894570;AY894571;AY894572;AY894573;BC071723;BC086308;BC089398;BX511041;NM_001037501;NR_102404;NR_102405;XR_110613;XR_159151;XR_171189;XR_171240 AAH86308;AAX85100;AAX85101;AAX85102;AAX85106;AAX85107;AAX85108;AAX85109;AAX85110;AAX85111;AAX85112;CAM28240;CAM28241;NP_001032590;Q3BBV2 Hs.445080;Hs.534675;Hs.571820;Hs.721588;Hs.744197 5016673;5018987;5094058;5113024 AL033815;G34947;RH66976;RH98198 MGC99641;NBPF11;NBPF8P CG10522-PA-like;OTTHUMP00000095769;hypothetical protein LOC728841;neuroblastoma breakpoint family member 8;neuroblastoma breakpoint family, member 8, pseudogene;putative neuroblastoma breakpoint family member 8 APPROVED protein-coding ENSG00000162825 31990 613998 REVIEWED 1345311 NBR2 neighbor of BRCA1 gene 2 (non-protein coding) This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 bases upstream of the last splice site for the transcript suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. [provided by RefSeq, Jul 2008] 17 17 17 q21 37934454 37953984 + 38531126 38550656 + 41277600 41297130 + 1580863;6480464 16438707;16052033;15777733;15533724;12477932;11508855;11179671;10531328;10205276;9261099;9215675;21989022 10230 O15453 ABBA01006390;AC135721;AL598622;AMYH01008402;AY597810;BC022065;BC034248;BC107773;BT007332;CR936675;NG_005905;NR_003108 Hs.373818;Hs.559259 1662158;1744103;1745697;1791446;2164296;5015861;5016478;5022200;5022578;7185938 D10S16;D17S1198;D1S1423;GDB:388557;GDB:434012;GDB:631944;L18426;PMC110706P1;RH70206 DKFZp686F081;MGC104305;NCRNA00192 APPROVED miscrna ENSG00000198496 20691 10115 REVIEWED 6482609 NCAPD2P1 non-SMC condensin I complex, subunit D2 pseudogene 1 7 34789865 34791656 - 100421175 AACC02000103;ABBA01056881;AC005174;AMYH01017172;NG_026451 1772132 WI-21900 pseudo 43831 INFERRED 1342930 NCAM2 neural cell adhesion molecule 2 The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] 21 21 q21.1 21292504 21833085 + 22370633 22912517 + 1580863;6480464;6907045 12538518;9226371;19086053;18706912;15146195;12754519;12477932;10830953;16009131;20834067;20029409;20379614;20932310;21552555;21214674;21300289;22589738;21906983 4685 B7Z841;H9KV31;O15394 AA234378;ABBA01057158;ABBA01057159;ABBA01057160;ABBA01057161;ABBA01057162;ABBA01057163;AI207079;AK299054;AK302870;AMYH01012163;AMYH01012164;AMYH01012165;AP001114;AP001115;AP001136;AP001137;AP001138;AP001252;BC036088;BC052946;CH471079;NM_004540;U75330 AAB80803;AAH52946;BAH12938;BAH13827;EAX10004;EAX10005;NP_004531;O15394 Hs.473450 1340473;1341412;1670389;1679113;1688706;1689233;1715617;1718621;1728019;1731162;1732123;1757631;1771892;1790631;2171582;5491390 D21S178;D21S1884;D21S214;D21S414;G63280;NCAM2;RH119251;RH122996;RH92742;SHGC-145550;SHGC-51821;SHGC-51842;SHGC-6935;SHGC-7315;SHGC-87507;STS_CEB261 MGC51008;NCAM21 N-CAM-2;NCAM-2;OTTHUMP00000095814;neural cell adhesion molecule 2 APPROVED protein-coding 7657 03619 602040 REVIEWED 1322877 NBR1 neighbor of BRCA1 gene 1 The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled coil motif, which is present in many genes with transformation potential, but the function of this protein is unknown. This gene is located on a region of chromosome 17q21.1 that is in close proximity to tumor suppressor gene BRCA1. Three alternatively spliced variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.31 38576024 38600582 + 41322498 41363707 + 6480464 19427866;16189514;15802564;15489334;14702039;12813044;12477932;12107412;11856312;11179671;8700509;8069304;7997258;7584044;7581362;7545954;19250911;19398892;19822672;20379614;20562859;22484440;20417604;21620860;21606687;21989022;22430266;22558309;15840729;18781797;21139048;21906983;21935636;16713569;20010802;20368287;20808283;21963094;21121670;22505724;22797925;22728060 4077 B7Z5R6;J3KPL5;Q14596 ABBA01006388;ABBA01006389;ABBA01006390;AC060780;AC109326;AF227189;AK128512;AK290005;AK297425;AK299328;AK308324;AMYH01008402;AY450308;BC009808;BC012847;BM509256;CD673012;CH471152;D30756;DQ190450;DQ190451;DQ190452;DQ190453;DQ190454;DQ190455;DQ190456;DQ190457;DQ478408;NG_005905;NM_005899;NM_031858;NM_031862;U25764;X76952 AAA93228;AAF74119;AAH09808;AAS15047;ABA29210;ABA29213;ABA29216;ABA29219;ABA29222;ABA29225;ABA29228;ABA29231;ABF14461;BAA06417;BAF82694;BAH12580;BAH13002;CAA54274;EAW60946;EAW60947;EAW60948;EAW60949;EAW60950;EAW60951;EAW60952;EAW60953;NP_005890;NP_114064;NP_114068;Q14596 Hs.277721;Hs.708158 1A1-3B;FLJ55359;FLJ98272;KIAA0049;M17S2;MIG19 cell migration-inducing gene 19 protein;membrane component chromosome 17 surface marker 2;migration-inducing protein 19;neighbor of BRCA1 gene 1 protein;next to BRCA1 gene 1 protein;protein 1A1-3B APPROVED protein-coding ENSG00000188554 6746 01326 166945 REVIEWED 1344259 NCAN neurocan Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002] 19 19 p12 19183782 19224061 + 19322782 19363061 + 728116;1580863;6480464;6484113 1326557 7490074;19148283;19060911;19060906;18193043;15146197;15057824;14702039;12477932;11076863;10934197;9795216;9507007;9341124;8910306;8663515;7513709;20679960;20950796;21353194;22208664;20686565;21997179;22497794;22952076 1463 F5H7X3;K7EKF8;K7ESA7;O14594;Q4LE67 AB210004;ABBA01051319;ABBA01051320;AC003110;AC005254;AC138430;AF026547;AK126639;AK297395;AK309138;AMYH01009607;CH471106;CN282070;NM_004386 AAB86655;AAC25581;AAC80576;AAI11852;BAE06086;BAG59835;EAW84801;EAW84802;NP_004377;O14594 Hs.169047 1733846;1751685;2107973;2123520;2147839 CSPG3_8286;D19S603;D19S652E;RH35856;SHGC-105663 CSPG3;FLJ44681 chondroitin sulfate proteoglycan 3 (neurocan);neurocan core protein;neurocan proteoglycan APPROVED protein-coding ENSG00000130287 2465 02897 600826 VALIDATED 734022 NCAM1 neural cell adhesion molecule 1 This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] 11 11 q23.1 112337205 112654368 + 112831969 113149158 + 1358750;1580863;2326079;2326080;2326070;2326077;2326074;2326067;2326066;2326076;2325979;2326075;2326028;6480464;6484113;6907045 12031086;8972754;15100237;8501910;11249065;10086383;15714132;9851639;19853610;10374842;20412599 16892559;22099865;10770948;3576199;19652998;19507465;19393299;19328558;19328310;19235015;19222860;19153015;19086053;18990213;18979395;18972120;18828801;18755075;18641363;18628406;18601968;18594005;18462256;18432248;18425046;18384787;18368482;18353777;18333845;18323797;18289872;18261743;18231917;18213713;18209097;17982624;17971410;17940597;17900814;17891186;17878347;17761687;17683591;17635242;17467233;17431094;17413444;17337466;17216340;17208489;17181871;17161382;17085484;17043020;17005551;17003032;16627685;16572491;16534119;16406048;16344560;16335952;16316416;16211277;16172115;16027151;15950781;15822905;15782066;15626024;15528382;15459479;15356097;15246157;15231874;15223636;15146195;15061198;15050861;15006709;14959847;14726964;14702039;14688313;12937148;12837245;12791681;12743109;12727026;12594840;12477932;12121226;12008081;12003861;11915324;11839780;11820619;11685193;11681838;10766765;10760298;10611478;9951628;9774483;9079653;8910306;8702635;8509458;8075973;7854457;7755976;7624364;3281256;3253057;3203385;2887295;2612216;1710251;1543753;1339414;17995934;10772929;16690409;22319021;20187302;20414008;21148082;21457956;20557674;20610389;19411161;19724850;19772585;19788570;19788615;19864234;19897577;20027291;20029409;20049565;20083228;20379614;20483466;8493579;21115007;20696944;20733159;19725832;20805222;20538416;20875069;20231901;21116278;19913121;20164549;20628086;20664990;20059553;20932956;21212386;21691800;22423624;20524836;19587433;21239711;20684989;21739604;20015889;21467162;21464126;21515372;22281821;21669487;21666061;21178331;21577011;17213291;21940794;21139048;22228741;22591692;21717310;22001684;22276608;22211388;22449227;22384114;22384181;22085395;21988832;23015367;23275563;23495921;23292839;23635388;22081445;23022470;23303482;23365458;22732936;22219127;23061666;22792160 4684 H7BYX6;Q59FL7;R4GMN9 AA029449;AB209443;ABBA01039789;ABBA01039790;AF005070;AK054570;AK054929;AK057509;AK292453;AK299865;AK303232;AK314589;AMYH01004037;AP000802;AP000880;AP000999;AP002853;AW131780;BC014205;BC019845;BC029119;BC047244;CH471065;DA231540;DA337649;FP884230;M17409;M17410;M22092;M22094;NG_032036;NM_000615;NM_001076682;NM_001242607;NM_001242608;NM_181351;S71824;S73101;U63041;X16841;X55322;X59400 AAA59910;AAA59911;AAA59912;AAA59913;AAB04558;AAB20698;AAB31836;AAB61615;AAH14205;AAH29119;AAH47244;ACE87816;ACT64552;BAD92680;BAF85142;BAG61719;BAH13922;CAA34739;EAW67201;EAW67202;EAW67203;EAW67204;EAW67205;EAW67206;EAW67207;EAW67208;NP_000606;NP_001070150;NP_001229536;NP_001229537;NP_851996;P13591 Hs.503878;Hs.711235;Hs.733031 1336152;1338680;1644712;1646039;1647921;1652749;1658768;1666499;1675191;1693594;1706292;1715153;1732267;1732293;1737131;1741635;1743689;1751871;1753265;1755385;1759645;1796392;2111798;2111836;2113986;2116891;2118781;2123679;2132335;2139497;2149826;2150462;2156244;2159658;2163007;2175118;2176056;2183265;5120161 D11S1016;D11S1823;D11S1838;D11S2287E;D11S2340;D11S2968;D11S3179;D11S3977;D11S3988;D11S4090;D11S4097;D11S4276;D11S4392;D11S4487;D11S4508;G15914;GDB:181600;GDB:197883;GDB:370885;NCAM;NCAM1;NCAM1_938;RH119827;RH47388;RH48783;RH48924;RH78094;SHGC-105811;SHGC-110131;SHGC-142263;SHGC-150864;SHGC-31955;SHGC-34548;SHGC-58501;SHGC-80703;STS-AA029449;STS-T55351;WI-14126;WI-15165 CD56;MSK39;NCAM N-CAM-1;NCAM-1;OTTHUMP00000235666;antigen recognized by monoclonal antibody 5.1H11;neural cell adhesion molecule 1;neural cell adhesion molecule, NCAM APPROVED protein-coding ENSG00000149294 7656 00301 116930 REVIEWED 1348281 NCALD neurocalcin delta This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 8 8 q22.2 102767946 103206311 - 102698770 103137135 - 6480464 18500817;19342380;20379614;11964161;11256614;17671797;16381901;16344560;15489336;15489334;14702039;12477932;11836243;11267673;11230166;11115393;11076863;9110174;8889548;8619474;7852401;16189514;21890473;21906983;21876539;23156397;20125193 83988 B2RB70;E5RFL9;E5RGA9;E5RGZ0;E5RHC8;E5RHE8;E5RI78;E5RI95;E5RIA5;E5RIG4;E5RIX3;E5RIZ1;E5RJA1;E5RJF1;E5RJJ6;E5RJT1;E5RK89;P61601 AB209015;ABBA01037598;ABBA01037599;ABBA01037600;ABBA01037601;AF052142;AF251061;AK055073;AK055097;AK096515;AK314523;AL136612;AMYH01018933;AMYH01018934;AMYH01018935;AP000426;AP001206;AP001328;AP001329;AP001575;BC001131;BC009949;BC033319;BC036098;BC063428;BM681731;CH471060;DA185335;DA211806;DA215759;DA417037;DA776593;DA779293;DB284042;NM_001040624;NM_001040625;NM_001040626;NM_001040627;NM_001040628;NM_001040629;NM_001040630;NM_032041 AAH36098;AAH63428;AAK34951;ABZ92067;BAD92252;BAG37117;BAG51461;BAG53310;CAB66547;CAL37558;CAL38224;EAW91835;EAW91836;EAW91837;NP_001035714;NP_001035715;NP_001035716;NP_001035717;NP_001035718;NP_001035719;NP_001035720;NP_114430;P61601 Hs.492427 1335227;1645667;1665285;1670050;1672806;1700132;1715425;1763483;1763625;1853253;1856344;2110973;2123942;2127125;2133230;2133232;2147465;2147467;2156577;2157944;2220516;5122711 186XB2;A002C26;A005U11;AFM345YD9;D8S1046;D8S361E;G19929;G20502;G32174;L29702;RH103679;RH12039;RH120545;RH18432;RH47462;SGC32324;SHGC-147184;SHGC-147319;SHGC-32239;SHGC-4220;UniSTS:483862;WI-15914 MGC33870;MGC74858 OTTHUMP00000227782;OTTHUMP00000227783;OTTHUMP00000227785;neurocalcin-delta APPROVED protein-coding ENSG00000104490 7655 09466 606722 REVIEWED 1604840 NCAPD2 non-SMC condensin I complex, subunit D2 12 12 12 p13.3 8220214 8257993 + 6473561 6511075 + 6603298 6641132 + 6480464 10958694;10101332;18340469;17081983;16964243;16565220;15489334;15146197;14702039;12477932;12138188;11136719;10601332;8590280;20800603;16543152;19454010;20508983;22863883;22990118;22939629;18029348;22586326;19343720;21858164;21987572;17268547;21139048;21890473;21906983;22145905;14532007;22053931;22505724 9918 B3KMS0;B3KY03;E7EN77;F5GZJ1;F5GZK7;F5H431;Q15021 ABBA01017642;ABBA01017643;AC006064;AK022511;AK125155;AK128354;AK303310;AL548223;AMYH01004203;AMYH01004204;BC016913;BC028182;CH471116;CN307514;D63880;NM_014865 AAH16913;AAH28182;BAA09930;BAC86066;BAG51082;BAG54665;BAG64379;EAW88788;EAW88789;EAW88790;NP_055680;Q15021 Hs.5719 1683525;1733586;1772132;2124947;2161254;5015527;5015961;5022322;5124893 D11S2560;D12S229;D12S924;D15S1477;G41276;RH25377;RH48486;RH93703;WI-21900 CAP-D2;CNAP1;KIAA0159;hCAP-D2 OTTHUMP00000238893;OTTHUMP00000238895;XCAP-D2 homolog;chromosome condensation related SMC associated protein 1;chromosome condensation-related SMC-associated protein 1;chromosome-associated protein D2;condensin complex subunit 1 protein-coding ENSG00000010292 24305 06472 VALIDATED 1603696 NCAPD3 non-SMC condensin II complex, subunit D3 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008] 11 11 11 q25 131195520 131267291 - 133527547 133599636 - 134022337 134094426 - 6480464 14532007;18223322;17903297;16565220;15635413;15489334;15302935;14702039;12477932;9110174;8619474;7584044;16169070;19915589;20379614;21498573;22990118;23275444;16196087;17268547;21139048;21890473;21906983;21252943;22190034;22505724 23310 E9PJ63;E9PJM8;E9PKK4;E9PL84;E9PL95;E9PLE0;E9PQA3;E9PR72;G3V1A9;P42695 ABBA01031112;ABBA01031113;AF070553;AK025549;AK025667;AK095267;AK124878;AMYH01004146;AP001775;BC011408;BC098398;BC144524;CH471065;D29954;NM_015261 AAC28639;AAH11408;AAH98398;BAA06224;EAW67821;EAW67822;EAW67823;EAW67824;NP_056076;P42695 Hs.438550 1341210;1645045;1740813;1749443;1752919;1759553;2131840;2156165;5113750;5127394 D11S4125;D11S4440;G06763;RH17433;RH25290;RH70189;SHGC-106782;SHGC-111172;SHGC-150869;SHGC-34635 CAP-D3;CAPD3;FLJ42888;KIAA0056;MGC104671;hCAP-D3;hHCP-6;hcp-6 OTTHUMP00000235403;OTTHUMP00000235404;condensin-2 complex subunit D3 APPROVED protein-coding ENSG00000151503 28952 11062 609276 VALIDATED 6481348 NCBP2-AS1 NCBP2 antisense RNA 1 100874001 AC011322 APPROVED miscrna 40392 1353799 NCBP2L nuclear cap binding protein subunit 2-like X X X q22.3 107508457 107508873 + 107037491 107037907 + 107037491 107037907 + 18029348 392517 A6PVI3 ABBA01035935;ABBA01035936;AL109946;AMYH01022834;NG_011409 A6PVI3 dJ820B18.1 pseudo 31795 INFERRED 1601870 NCAPH2 non-SMC condensin II complex, subunit H2 This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010] 22 22 22 q13.33 34822672 34839236 + 49293511 49308782 + 50946645 50963209 + 6480464 15461802;14532007;12667442;12477932;10493829;16751776;20442714;19913121;20628086;17268547;21906983;21988832;23222517;22505724 29781 E5RJL4;E5RJN3;F8WAR3;H0YC55;Q9BVD1 ABBA01042625;ABBA01042626;ABBA01042627;AL021682;AMYH01012916;BC000473;BC001298;BC001509;BC001833;BC001937;BC009441;BC014939;BM802841;BU632273;CH471138;CR456604;DB498781;DQ579583;NG_021419;NM_001185011;NM_014551;NM_152299;U62317 AAB03345;AAH00473;AAH01509;AAH01833;AAH01937;AAH09441;AAH14939;CAA16670;CAG30490;EAW73552;EAW73553;EAW73554;EAW73555;EAW73556;EAW73557;EAW73558;EAW73559;NP_001171940;NP_055366;NP_689512;Q6IBW4 Hs.730607 1681911;1699060;1748375;1769722;1777806;2219676 AL008670;G65740;RH103105;RH92958;SCO2__5555;WI-11276 384D8-2;384D8_6;CAP-H2;CAPH2;MGC15858;MGC18000;MGC2455;MGC4133;MGC5305;MGC8640;hCAP-H2 CAP-H2 subunit of the condensin II complex;OTTHUMP00000196601;OTTHUMP00000196603;OTTHUMP00000196725;OTTHUMP00000196727;OTTHUMP00000196728;OTTHUMP00000196729;OTTHUMP00000226018;OTTHUMP00000226019;chromosome-associated protein H2;condensin-2 complex subunit H2;kleisin beta APPROVED protein-coding ENSG00000025770 25071 611230 REVIEWED 1605960 NCAPG non-SMC condensin I complex, subunit G This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 4 4 4 p15.33 18277506 18311469 + 17421623 17455586 + 17812436 17846488 + 6480464 21145461;12138188;11136719;10910072;18977199;18391951;17353931;17081983;16565220;15662014;15489334;15148359;14702039;12477932;20546612;14968112;20189936;16543152;19454010;16341674;22863883;22990118;22939629;18029348;14532007;17268547;21139048;21890473;21906983;22145905;17611626;18781797;22505724 64151 D6RA93;H0Y9Z8;Q9BPX3 AB013299;ABBA01032617;AC005768;AF235023;AF331796;AK022512;AK023147;AK027511;AMYH01014035;BC000827;BC002337;BC068467;BC101476;BC143383;BG398543;BM743260;BX474610;CH471069;DB451361;NM_022346;NR_073124 AAG30732;AAG49627;AAH00827;AAH68467;AAI01477;BAB14069;BAB14429;BAB21557;BAB55165;EAW92785;NP_071741;Q9BPX3 Hs.446201;Hs.567567 1673858;1698918;2120891;2180285;5093308;5112161 A009L13;G32642;RH102048;RH103028;SHGC-67761;STS-R67597 CAPG;CHCG;FLJ12450;HCAP-G;MGC126525;NY-MEL-3 OTTHUMP00000158674;XCAP-G homolog;chromosome condensation protein G;chromosome-associated protein G;condensin complex subunit 3;condensin subunit CAP-G;melanoma antigen NY-MEL-3 APPROVED protein-coding ENSG00000109805 24304 12097 606280 REVIEWED 1352198 NCAPH non-SMC condensin I complex, subunit H This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013] 2 2 2 q11.2 91442671 91482461 + 96365211 96405001 + 97001484 97041274 + 1580863;6480464 11136719;11694586;18029348;16964243;16565220;16543152;15489334;12477932;9417923;9160743;7584044;14532007;19454010;22863883;22939629;23383273;21151026;23000965;21633354;17268547;21139048;21890473;21906983;22505724 23397 B4E189;C9J470;C9JZP1;E9PHA2;H7C415;Q15003 ABBA01036591;AC021188;AK291053;AK299248;AK303725;AK308050;AK310649;AMYH01010722;BC024211;BI559873;BI560881;CH471207;D38553;NM_001281710;NM_001281711;NM_001281712;NM_015341 AAH24211;ABM84358;ABW03559;BAA07556;BAF83742;BAG61279;BAG64701;EAW71370;NP_001268639;NP_001268640;NP_001268641;NP_056156;Q15003 Hs.308045 2143112;5113052 RH17440;RH25303 BRRN1;CAP-H;HCAP-H OTTHUMP00000161008;OTTHUMP00000207475;OTTHUMP00000207476;OTTHUMP00000207477;XCAP-H homolog;barren homolog 1;barren homolog protein 1;chromosome-associated protein H;condensin complex subunit 2 APPROVED protein-coding 1112 03820 602332 REVIEWED 1603208 NCAPG2 non-SMC condensin II complex, subunit G2 This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 7 7 7 q36.3 152856604 152930122 - 158116764 158190281 - 158424003 158497520 - 6480464 18718915;16565220;16344560;15489334;14729962;14702039;14532007;12853948;12690205;12477932;18029348;16196087;17268547;21139048;21890473;21906983;21987572;21963094;23000965;22505724 54892 E7EUH9;F5H7R2;F8WE06;H0Y6U5;Q86XI2 AACC02000072;ABBA01032314;AC019084;AC093662;AK000318;AK022744;AK023347;AK092008;AK295057;AK301901;AK315699;AMYH01018209;AMYH01018210;BC005878;BC020560;BC028618;BC043404;BX537845;CA422216;CH236954;CH471149;DB069860;DW419642;NM_001281932;NM_001281933;NM_017760;NR_104054 AAH05878;AAH20560;AAH43404;AAS07494;ACE86950;ACE87640;BAA91081;BAB14219;BAB14534;BAG52464;BAG58106;BAG63329;CAD97854;EAL23929;EAX04585;EAX04586;EAX04587;EAX04588;EAX04589;NP_001268861;NP_001268862;NP_060230;Q86XI2 Hs.18616 CAP-G2;CAPG2;FLJ20311;LUZP5;MTB;hCAP-G2 OTTHUMP00000202108;OTTHUMP00000202109;OTTHUMP00000202110;OTTHUMP00000202112;chromosome-associated protein G2;condensin-2 complex subunit G2;leucine zipper protein 5;more than blood homolog APPROVED protein-coding ENSG00000146918 21904 10539 608532 REVIEWED 1319058 NCBP1 nuclear cap binding protein subunit 1, 80kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008] 9 9 q34.1 99435526 99475851 + 100395705 100436030 + 1580863;6480464;6907045 10973943;21145461;8069914;7478990;9111328;9342333;15130578;11333016;7651522;9049306;9409616;12676794;7937105;19026660;17499042;17081983;16344560;16317009;16189514;16186820;16156639;15901492;15680326;15574332;15489334;15361857;15164053;15040442;12477932;12434151;12374755;12093754;11545740;11340157;10786834;9933612;8812508;2148205;11551508;12226669;17190602;17289661;17643375;17873884;18369367;18423201;19648179;19668212;20691628;19417104;22863883;22990118;20508642;21402597;22939629;21447822;22446626;22493286;22586326;18781797;21139048;21693764;21890473;21906983;17332742;21628590;18974867;22952844 4686 F2Z2T1;Q09161 AB209233;ABBA01042928;ABBA01042929;AK312807;AL162385;AL445531;AMYH01021555;BC001450;CA418527;CH471105;D32002;DB086376;NM_002486;X80030 AAH01450;ABM86308;ABW03802;BAA06769;BAD92470;BAG35665;CAA56334;EAW58852;EAW58853;EAW58854;NP_002477;Q09161 Hs.595669;Hs.686479 1649585;1666595;1669288;1697934;1717273;1756483;1775648;1855629;2150579;2217658 NCBP1_4020;RH102496;RH122051;RH68376;RH71150;SHGC-12947;SHGC-143489;SHGC-36266;STS-AA011612;STS-AA035493 CBP80;MGC2087;NCBP;Sto1 80 kDa nuclear cap-binding protein;NCBP 80 kDa subunit;OTTHUMP00000021753;nuclear cap-binding protein subunit 1 APPROVED protein-coding ENSG00000136937 7658 02717 600469 REVIEWED 1602046 NCCRP1 non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 19 19 19 q13.2 36491191 36496097 + 44379444 44384362 + 39687604 39692522 + 6480464 12477932;19322201;21182205;22087255;21139048 342897 Q6ZVX7 ABBA01040721;AC011443;AK123941;AMYH01009791;BC067874;BC092493;CH471126;NM_001001414 AAH67874;AAH92493;BAC85732;EAW56867;NP_001001414;Q6ZVX7 Hs.726934 FBXO50;NCCRP-1 F-box only protein 50;NCC receptor protein 1 homolog;non-specific cytotoxic cell receptor protein 1 homolog;nonspecific cytotoxic cell receptor protein 1 homolog protein-coding ENSG00000188505 33739 17357 PROVISIONAL 734133 NCDN neurochondrin This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 34297787 34306774 + 35795980 35804967 + 36023393 36032380 + 6480464 15790563;14559245;12477932;11984006;11162505;10684983;10524216;9628581;22863883;21163940;16196087;22360420;20360068;21139048;21890473;21906983;21044950;22797925 23154 C9J5H8;H7C2R2;Q9UBB6 AB011179;AB018739;AB018740;AB027514;ABBA01023338;ABBA01023339;AC004865;AK295979;AL536768;AMYH01000491;AW207151;BC024592;BI545092;CH471059;NM_001014839;NM_001014841;NM_014284 AAD05029;AAH24592;ABM82076;ABM85256;BAA25533;BAA77830;BAA77831;BAA85384;BAA85385;BAG58754;EAX07410;EAX07411;EAX07412;NP_001014839;NP_001014841;NP_055099;Q9UBB6 Hs.121870 1767240;1768443;2118513;5023733 A005T45;AU048745;G09494;SHGC-74563 KIAA0607 OTTHUMP00000065369;OTTHUMP00000065370;OTTHUMP00000065371;neurochondrin APPROVED protein-coding ENSG00000020129 17597 10530 608458 REVIEWED 1606253 NCEH1 neutral cholesterol ester hydrolase 1 3 3 3 q26.31 170747009 170827586 - 173831129 173911700 - 172348435 172429008 - 6480464;6907045 18782767;17052608;17052604;16344560;15489334;12477932;10718198;20947831;19851296;20198315;20353815;23251661 57552 F5H7K4;F8WE33;H7C046;J3KN69;Q6PIU2 AB037784;ABBA01058645;ABBA01058646;AC007919;AC069237;AK294811;AK295641;AK299422;AK304253;AK316431;AL512752;AMYH01013653;AMYH01013654;BC028734;BC047588;BG701753;BP395319;CH471052;DA856205;DB289027;DC306836;NM_001146276;NM_001146277;NM_001146278;NM_020792 AAH28734;AAH47588;BAA92601;BAH11890;BAH12137;BAH13028;BAH14142;BAH14802;EAW78462;NP_001139748;NP_001139749;NP_001139750;NP_065843;Q6PIU2 Hs.444099 1719183;1767941;2128477;2148955;2164756 G13221;RH123310;SHGC-77552;SHGC-77553;WI-13736 AADACL1;NCEH OTTHUMP00000210873;OTTHUMP00000210946;arylacetamide deacetylase-like 1;neutral cholesterol ester hydrolase 1 protein-coding ENSG00000144959 29260 07489 613234 VALIDATED 1602015 NCF1B neutrophil cytosolic factor 1B pseudogene 7 7 q11.23 72272610 72287915 + 72634674 72649979 + 6480464 19077231;12853948;12477932;12176908;10772875;9847074;9329953;16720733 654816 A6NI72 ABBA01185793;ABBA01186141;AC006995;AC211485;AK298655;AMYH01017531;BC080194;NR_003186 A6NI72;BAG60825 Hs.655201 5092384;5124924;5126144 G54020;RH45388;WI-6056 NCF-1B;SH3PXD1B pseudo ENSG00000182487 32522 PROVISIONAL 1313360 NCBP2 nuclear cap binding protein subunit 2, 20kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q29 198146670 198153861 - 196662273 196669464 - 1580863;6480464;6907045 21326824;12434151;7651522;7478990;9111328;15130578;11333016;9342333;9049306;9409616;12676794;17499042;15574332;15489334;15361857;15342556;15146197;15040442;14702039;12477932;12374755;12093754;11551508;11545740;11331597;10786834;9933612;8682299;8601613;8069914;18426921;21145461;12226669;17873884;18369367;19648179;19668212;19417104;22939629;18029348;17332742;21139048;21890473;21906983;21628590;17190602;22505724 22916 B3KSB0;C9JKF4;C9JQX9;E9PAR5;F8WE41;P52298 ABBA01033761;AC011322;AK093216;AK296144;AK297506;AK308192;AK315903;AK316601;AL110262;AMYH01013799;AW440347;AY644767;BC001255;BP248419;BT006842;BX537372;BX647994;CH471191;CN421262;D59253;NM_001042540;NM_007362;X84157 AAH01255;AAP35488;AAV85455;ABM81629;ABM84813;BAA09599;BAG38188;BAG52672;BAG58884;BAG59919;BAH14274;CAA58962;CAD97614;EAW53620;EAW53621;EAW53622;EAW53623;EAW53624;NP_001036005;NP_031388;P52298 Hs.591671 1647170;1652059;1722535;1778072;1848270;2156392;2181612 D3S4203;G60194;SHGC-32190;SHGC-57408;SHGC-77712;SHGC-77714;WI-18726 CBC2;CBP20;NIP1;PIG55 20 kDa nuclear cap-binding protein;NCBP 20 kDa subunit;NCBP interacting protein 1;NCBP-interacting protein 1;OTTHUMP00000208152;OTTHUMP00000208153;OTTHUMP00000208155;OTTHUMP00000208156;OTTHUMP00000208157;OTTHUMP00000208158;cell proliferation-inducing gene 55 protein;nuclear cap-binding protein subunit 2 APPROVED protein-coding ENSG00000114503 7659 05503 605133 REVIEWED 1348698 NCF1 neutrophil cytosolic factor 1 The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008] 7 7 q11.23 73826245 73841595 + 74188309 74203659 + 1600562;1624399;1624401;1580863;6480464;6907045;7240710 7678602;16532385;2393022 2848318;2547247;7938008;11094157;19410294;19366706;19192478;19130504;19077231;18983267;18765662;18523147;18424721;18390927;18287880;18070887;18045865;18028450;18004884;17925180;17922419;17586618;17478731;17438039;17217339;17150107;16778989;16608528;16326715;15489334;12853948;12681507;12477932;12176908;11740866;11373621;11133775;10772875;9329953;8125298;8089108;7545954;2550933;2398896;2011585;14694110;12023963;12539042;10899172;10369419;11120743;12169629;11796733;11733522;10486263;11485312;11278853;8766817;9914162;11258927;9083043;11716484;11027608;12618429;16189514;21813271;17207965;19929442;20167518;20817944;20407811;17651608;20495074;20592030;18546332;10436021;11145703;11248021;11375989;11535139;11741599;11893732;12056906;12356722;12734380;12855698;15618548;15629715;15759055;16052631;16375898;19329991;19632255;19717732;19807924;19833721;19948975;9121467;9255350;21506107;23393912;21911753;21956105;21518975;22460559;22493288;22690528;21791598;21728841;21789723;22219181;21566280;22745667;16782902;20946164;20301301 653361 C9J155;H7C1S1;Q9BXI8 AC083884;AC211433;AF184614;AF330625;AF330626;AK127905;AK223217;AK292094;AK316341;AK316552;AMYH01017552;AW204865;AW207763;BC002816;BC065731;NG_009078;NM_000265;U25793;U57835 AAA93232;AAB95193;AAF34737;AAH02816;AAH65731;AAK19516;AAK19517;AAS07465;ABM84076;ABM87444;ADQ32300;BAD96937;BAF84783;BAG54596;BAG65630;BAH14712;NP_000256;P14598 Hs.647047;Hs.655201 5092384;5124924;5126144 G54020;RH45388;WI-6056 FLJ79451;NCF1A;NOXO2;SH3PXD1A;p47phox 47 kDa autosomal chronic granulomatous disease protein;47 kDa neutrophil oxidase factor;NADPH oxidase organizer 2;NCF-1;NCF-47K;OTTHUMP00000195569;SH3 and PX domain-containing protein 1A;neutrophil NADPH oxidase factor 1;neutrophil cytosol factor 1;neutrophil cytosolic factor 1 (47kda, chronic granulomatous disease, autosomal 1);neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1);nox organizer 2;nox-organizing protein 2;p47-phox APPROVED protein-coding ENSG00000158517 7660 233700;608512 REVIEWED 1602014 NCF1C neutrophil cytosolic factor 1C pseudogene The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009] 7 7 q11.23 74210381 74225695 - 74572384 74587816 - 19077231;16344560;12477932;12176908;10772875;9847074;9329953;1554499;15775784;11940577;12130503;12681507;12101222;16460309;12152222;11970841;11893732;15024088;14761962;12855698;12356722;16297854;15618548;15777282;15256399;16626305;15213464;15181005;11903052;15033459;12859985;12732142;12719414;12672956;12589359;12556460;11796733;16293794;12023963;15629715;12734380;15225553;8889548 654817 A8MVU1 AC124781;AC211470;AC245150;AF330627;AK298739;AK301397;AK316329;AMYH01017552;BC071711;BC094845;BM678845;DC389713;M25665;M55067;NR_003187 A8MVU1;AAA57209;AAA59901;AAK19518;BAG60886;BAG62932;BAH14700 Hs.647047;Hs.648940;Hs.655201 5092384;5124924;5126144 G54020;RH45388;WI-6056 SH3PXD1C APPROVED pseudo ENSG00000165178 32523 01990 REVIEWED 1314271 NCF4 neutrophil cytosolic factor 4, 40kDa The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 22 22 q13.1 35586991 35604005 + 37257030 37274059 + 1580863;6480464;6907045 8280052;8839867;19505917;19423521;19372141;19262523;18807499;18755982;18711001;18580884;17897462;17698849;16880255;16608528;16102984;15657040;15489334;15461802;15035643;12887891;12556460;12477932;12456638;12356722;12065324;12036891;11917128;11903052;11893732;11796733;11716484;11684018;11433301;11433300;11258927;10672014;10591208;10437784;10397171;9914162;9804763;9370364;9365277;9083043;8982388;8670049;8147882;8125298;7938008;243433;21956105;12813044;19423540;19692703;20056178;20406964;20438785;20167518;19913121;20628086;11483497;20637895;21122541;22984083;21518975;16782902;21890473;22197932;22158027;21472827;20301476 4689 B0QY04;H0Y6X8;Q15080 AB025219;AB025220;ABBA01055450;AK223324;AK290924;AL008637;AMYH01012753;BC002798;BT007346;BU076892;BX355636;CH471095;CR456528;CR542078;DQ314880;NG_023400;NM_000631;NM_013416;U50720;U50721;U50722;U50723;U50724;U50725;U50726;U50727;U50728;U50729;X77094 AAB39970;AAH02798;AAP36010;ABC40739;BAA89791;BAA89792;BAD97044;BAF83613;CAA54372;CAG30414;CAG46875;CAK54559;CAK54858;EAW60122;EAW60123;EAW60124;NP_000622;NP_038202;Q15080 Hs.474781 1661850;2157193 RH47220;RH66798 MGC3810;NCF;P40PHOX;SH3PXD4 NCF-4;OTTHUMP00000197809;OTTHUMP00000197810;SH3 and PX domain-containing protein 4;neutrophil NADPH oxidase factor 4;neutrophil cytosol factor 4;p40-phox APPROVED protein-coding ENSG00000100365 7662 03289 601488;613960 REVIEWED 6481060 NCKAP5-IT1 NCKAP5 intronic transcript 1 (non-protein coding) 100874346 AC011996 miscrna 41497 1319760 NCF2 neutrophil cytosolic factor 2 This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] 1 1 q25 181791320 181826339 - 183524697 183560056 - 1624401;1580863;2314435;2314452;2314453;2314430;2314450;2314451;2314448;2314434;6480464;6907045;7240710 2393022;17515452;10873554;9329126;19307699;14644473;14514646;15606902;18061195 16310324;9642115;9365277;7938008;18029348;19505917;19423540;19423521;19372141;19258923;19116138;18676680;18625437;18424721;18029359;17910042;17712795;17703412;17537988;17462995;17060455;16987007;16710414;16626305;16608528;16344560;1692159;16297854;16293794;15513967;15489334;15342556;15256399;15181005;12719414;12716910;12477932;12207919;12169629;12130503;12121978;12101222;11929750;11917128;11896062;11893732;11796733;11781392;11733522;11705402;11483614;11278853;11090627;10672014;10598813;10498624;10486263;9624165;9255350;9083043;9070911;8975869;8889548;8748143;8286749;8257426;7903171;1979859;9914162;11027608;20679349;20167518;11248021;12813044;15642721;19170196;19439231;19625176;19692168;19717732;19953534;20056178;20074641;20237496;20375610;20406964;20438785;20503287;7738010;8036496;9121467;20842512;18546332;19913121;20628086;17651608;11483497;21119665;22562447;22203994;21954286;22046141;16052631;21900546;12887891;23187810;16782902;20301301;22797925;23264412 4688 B1ALB6;B1ALB7;Q9BV51 AB209647;ABBA01027747;AF527950;AK296672;AK298713;AK312666;AL137800;AMYH01001552;AMYH01001553;AW951155;BC001606;BM979513;BP193903;BQ029626;BT007439;BU617086;CH471067;DA420141;DA817767;DC358267;DQ314879;DQ517931;M32011;NG_007267;NM_000433;NM_001127651;NM_001190789;NM_001190794;U00777;U00778;U00779;U00780;U00781;U00782;U00783;U00784;U00785;U00786;U00787;U00788 AAA36379;AAB60320;AAH01606;AAM89263;AAP36107;ABC40738;ABG74586;ABM84576;ABM86738;BAD92884;BAG35548;BAG59269;BAG60869;EAW91160;EAW91161;EAW91162;NP_000424;NP_001121123;NP_001177718;NP_001177723;P19878 Hs.587558 1729059;1793174;2120871;2136796;2184122;5016478;5020948 G35510;GDB:434012;Ncf2-rs;PMC197251P6;RH11087;SHGC-76025;SHGC-76057 FLJ93058;NCF-2;NOXA2;P67-PHOX;P67PHOX 67 kDa neutrophil oxidase factor;NADPH oxidase activator 2;OTTHUMP00000033269;OTTHUMP00000033270;chronic granulomatous disease, autosomal 2;neutrophil NADPH oxidase factor 2;neutrophil cytosol factor 2;neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) APPROVED protein-coding ENSG00000116701 7661 01991 233710;608515 REVIEWED 1321736 NCK1 NCK adaptor protein 1 The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010] 3 3 q21 138063763 138150658 + 136581050 136667968 + 1580863;2298729;6480464;6484113;6907045 17658244 12110186;18955169;18835251;18212058;17984209;17944934;17906149;17803907;16835242;16636066;16595635;16543952;16525419;16503409;15951569;15556869;15489334;15469942;15187089;15144186;15051508;14757753;14559906;12819203;12477932;12181570;12154000;12149262;12135674;12091389;12087092;12074588;12007418;11959995;11741599;11689432;11494134;11487585;11418237;11340081;11279207;11278553;11278500;11278436;11278241;11240126;11160719;11024037;10808124;10805734;10766742;10747096;10671570;10521462;10508618;10409713;10330411;10229072;10206341;10026169;10022833;9843378;9837978;9737977;9697839;9694849;9600074;9430661;9405464;9362449;9344857;9314836;9233798;9135144;9024622;9010224;9006905;8910519;8879209;8824201;8810325;8605018;7956370;7862111;7806213;7706279;7565724;7517397;2107526;1448108;1333046;7926767;9891069;9346925;10391903;10747847;11950595;1333047;11157752;10204582;11724572;15388330;11483358;16729043;15297625;15558067;15696170;11533668;8890167;20850195;20562827;10428862;12379115;12620186;15342556;16344560;16374509;16966330;17474147;19242519;19807924;20079431;20129698;20237496;9846482;20800603;21397687;22964333;22974441;21536650;21664272;21707536;21880263;21719533;21900206;22132889;22745667;10372803;10829062;11418612;22267732;22327338;22534133;22613834;9851874;22677168;21309750;15908432;16273093;17868192;18067320;18296648;19523119;21988832;23448571;10967110;11557983;22323535;22844345 4690 C9J0K5;C9J869;C9JAB9;C9JVV5;C9K098;H7C5C7;P16333 ABBA01059107;ABBA01059108;AC011597;AK301460;AK312692;AMYH01013522;BC006403;BP339594;CH471052;DA265476;NM_001190796;NM_006153;X17576 AAH06403;ABM84020;ACE87083;ACE87763;BAG35571;BAH13487;CAA35599;EAW79105;EAW79106;EAW79107;EAW79108;EAW79109;NP_001177725;NP_006144;P16333 Hs.477693 1337303;1657866;2178325;2180321 D3S3349;D3S3617;D3S4077;SHGC-77376 MGC12668;NCK;NCKalpha;nck-1 NCK tyrosine kinase;OTTHUMP00000216478;OTTHUMP00000216479;OTTHUMP00000216492;OTTHUMP00000216498;SH2/SH3 adaptor protein NCK-alpha;cytoplasmic protein NCK1;melanoma NCK protein;nck-1;non-catalytic region of tyrosine kinase APPROVED protein-coding ENSG00000158092 7664 02740 600508 REVIEWED 1323803 NCKAP1L NCK-associated protein 1-like This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010] 12 12 12 q13.1 54543329 54588759 + 53177762 53223166 + 54891495 54936899 + 1580863;6480464 1932118;17696648;16417406;16344560;12477932;11337467;7643388;17875758;16055720;23022380;21890473;21906983;23000965;23251661;22505724 3071 F8W050;P55160 ABBA01008375;AC025570;AC068789;AC079313;AI924363;AK300783;AK314012;AMYH01004489;AU100069;AW575485;BC001604;BC064997;BC084547;BC093769;BC093771;BC143355;CH471054;CQ834718;DA820115;M58285;NM_001184976;NM_005337 AAA35964;AAH01604;AAH64997;AAH84547;AAH93769;AAH93771;BAG36723;BAG62447;CAH05574;EAW96786;EAW96787;NP_001171905;NP_005328;P55160 Hs.182014 2157289;2182792 SHGC-12875;STS-H47633 HEM1 OTTHUMP00000242267;OTTHUMP00000242269;hematopoietic protein 1;membrane-associated protein hem-1;nck-associated protein 1-like APPROVED protein-coding ENSG00000123338 4862 00781 141180 REVIEWED 2312879 NCLP1 nucleolin pseudogene 1 9 9 q34.3 110221007 110223695 - 139707240 139709928 - 100302751 ABBA01022722;AL355987;AMYH01021874;NG_012793;NG_031950 1679593 RH65048 pseudo 35472 INFERRED 1314306 NCK2 NCK adaptor protein 2 This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q12 105727786 105877160 + 106361520 106510730 + 1580863;2300344;6480464;6484113;6907045 16493410 12110186;9737977;18723748;18555270;17906149;17803907;16835242;16752908;16636066;16604428;15900300;15764601;15489334;15096211;12794636;12477932;12213210;12206665;12074588;11950595;11557983;11514578;11240126;11027258;10887126;10026169;10022929;9843575;1333047;16189514;16169070;12470648;15117958;18086875;15350535;16337946;16525419;16713569;19242519;19807924;19956763;20237496;20379614;8889548;21880263;21900206;21949127;21822214;22745667;21992144;16273093;23533358;23349798;23455922;22797925 8440 E7EPF5;E7ERP6;E9PEE2;O43639 ABBA01073849;ABBA01073850;AC009505;AC010978;AF043119;AF047487;AMYH01010836;BC000103;BC007195;BC033176;BG480643;BM555604;BM920530;BU738133;CB959523;CH471127;DB456958;NM_001004720;NM_001004722;NM_003581 AAC04831;AAC80284;AAH00103;AAH07195;AAY14937;AAY24332;EAX01753;EAX01754;NP_001004720;NP_001004722;NP_003572;O43639 Hs.529244;Hs.735723 2108297;2167054 NCK2_8809;RH68373 GRB4;NCKbeta OTTHUMP00000203152;OTTHUMP00000203153;OTTHUMP00000225213;SH2/SH3 adaptor protein NCK-beta;cytoplasmic protein NCK2;growth factor receptor-bound protein 4;noncatalytic region of tyrosine kinase, beta APPROVED protein-coding ENSG00000071051 7665 05378 604930 REVIEWED 2974665 NCLP2 nucleolin pseudogene 2 X X q26.3 134595983 134597444 - 134209166 134210627 - 100379142 ABBA01042521;AL590325;AMYH01022997;NG_016573 bA85L21.1 pseudo 35473 INFERRED 1625092 NCKAP5 NCK-associated protein 5 2 2 2 q21.2 127144620 128041268 - 133145842 134042501 - 133429372 134326031 - 6480464 17474147;19010793;15489334;14702039;12477932;9344857;19913121;20628086;20936779;18821565;19488044;20379614;20889312;22419738;18654987;20881960;20467438;23362303;23412934 344148 C9JYL7;H7C187;O14513 AB005217;ABBA01028204;ABBA01028205;ABBA01028206;ABBA01028207;ABBA01028208;ABBA01028209;ABBA01028210;ABBA01028211;ABBA01028212;AC010890;AC010974;AC011243;AC011755;AC011996;AC012489;AC016909;AK057980;AK092189;AK124659;AMYH01011109;AMYH01011110;AMYH01011111;AY946007;AY946008;BC110831;CA438539;NM_207363;NM_207481 AAI10832;AAI72401;AAY23346;AAY23347;BAA22433;BAC03824;BAC85920;NP_997246;NP_997364;O14513 Hs.537329 1339794;1341905;1654436;1673860;1696986;1708614;1708854;1713495;1713999;1714493;1715987;1723319;1725259;1727733;1728319;1770560;1783966;1852480;1852670;2111358;2127439;2135941;2136819;2140157;2155570;2158381;5022651;5118412;7185171;7186816 AFMA272ZG9;AFMB334WB9;D11S2921;D11S3270;D2S114;D2S1508E;D2S1743;D2S198E;D2S2003;D2S2256;G16364;G63131;G63441;RH101965;RH118475;RH119350;RH119429;RH119758;RH120231;RH122736;RH36375;RH46272;RH47889;RH69247;SHGC-132790;SHGC-83923;SHGC-85099;WI-18113 ERIH1;ERIH2;FLJ34870;NAP5 NAP-5;Nck associated protein 5;OTTHUMP00000204126;OTTHUMP00000204279;nck-associated protein 5;peripheral clock protein 2 APPROVED protein-coding ENSG00000176771 29847 16936 608789 VALIDATED 732467 NCKAP1 NCK-associated protein 1 2 2 q32 183497850 183611474 - 183789605 183903229 - 1580863;6480464;6484113 11418237;15294869;17353931;10673335;15489334;15324660;15048733;15048123;14702039;14560022;14506234;12477932;12181570;9628581;9463375;9417078;9148763;8605018;15749123;16055720;9344857;15296760;22863883;21875946;21706016;23000965;8889548;22779921;21139048;21890473;21906983;22586326 10787 Q9Y2A7 AB011159;AB014509;ABBA01062302;ABBA01062303;ABBA01062304;ABBA01062305;ABBA01062306;AC064871;AC108514;AI215133;AK001291;AK002153;AK292914;AMYH01011319;AMYH01011320;BC015025;BT007033;CA314471;CH471058;NM_013436;NM_205842 AAH15025;AAP35681;AAX93118;AAY24196;ABM84471;ABM84735;BAA25513;BAA77295;BAF85603;BAG50887;BAG51019;EAX10952;EAX10953;EAX10954;EAX10955;EAX10956;EAX10957;NP_038464;NP_995314;Q9Y2A7 Hs.603732 1338451;1724129;1775172;7187882 D2S350;RH12037;RH122355 FLJ11291;HEM2;KIAA0587;MGC8981;NAP1;NAP125;p125Nap1 NAP 1;OTTHUMP00000163460;OTTHUMP00000163461;membrane-associated protein HEM-2;nck-associated protein 1;p125Nap1 protein-coding ENSG00000061676 7666 05353 604891 VALIDATED 1322714 NCKIPSD NCK interacting protein with SH3 domain The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 p21 48686281 48698338 - 48711277 48723334 - 1580863;6480464 10619843;10648423;17537434;17398099;16253999;16189514;15324660;14559906;12477932;11509578;11278500;11241789;11157975;15095401;16990791;17474147;19460367;19807924;18850735;23024796;23342115;22745667;18654987;19380743;22505724 51517 C9JC20;C9JMQ4;C9JSC3;F8WCR8;H7C0T9;H7C2K2;Q9NZQ3 AB069981;AB069982;ABBA01024641;ABBA01024642;AC141002;AF178432;AF303581;AI863106;AJ242655;AK294151;AMYH01013152;AY453794;BC006255;BC016052;BC026280;CH471055;HY010884;HY050918;NM_016453;NM_184231 AAF35985;AAH16052;AAH26280;AAK09094;AAR83735;ADZ15538;BAB63204;BAB63205;BAG57476;CAB65089;EAW64915;EAW64916;EAW64917;EAW64918;NP_057537;NP_909119;Q9NZQ3 Hs.655006 2134261 SHGC-76934 AF3P21;DIP;DIP1;MGC23891;ORF1;SPIN90;VIP54;WASLBP;WISH 54 kDa VacA-interacting protein;54 kDa vimentin-interacting protein;90 kDa SH3 protein interacting with Nck;DIP-1;NCK-interacting protein with SH3 domain;OTTHUMP00000164823;OTTHUMP00000210186;SH3 adapter protein SPIN90;SH3 protein interacting with Nck, 90 kDa;VIP54;WASP-interacting SH3-domain protein;dia interacting protein;dia-interacting protein 1;diaphanous protein interacting protein;diaphanous protein-interacting protein;wiskott-Aldrich syndrome protein-interacting protein APPROVED protein-coding ENSG00000213672 15486 09450 606671 REVIEWED 1605652 NCKAP5L NCK-associated protein 5-like 12 12 12 q13.12 48980950 49018227 - 48471202 48508475 - 50184929 50222208 - 6480464 15146197;14702039;12477932;10997877;20936779;21906983;23314748;22505724 57701 H7C1V4;Q9HCH0 AB046822;ABBA01031536;ABBA01031537;AC131157;AF370366;AK093900;AMYH01004446;AMYH01004447;BC007998;BC020433;BC033253;BC110599;BU617503;BX327000;CN359941;CN359946;NM_001037806 AAH07998;AAH33253;AAI10600;AAQ15202;BAB13428;NP_001032895;Q9HCH0 Hs.143067 5024761;5037552 D8S2279;RH36905 FLJ36581;FP1193;KIAA1602;MGC129863 NCKAP5-like;OTTHUMP00000211198;nck-associated protein 5-like protein-coding ENSG00000167566 29321 615104 VALIDATED 1343218 NCLN nicalin 19 19 19 p13.3 3122250 3145978 + 3136875 3160573 + 3185875 3209573 + 737633;1580863;6480464 12477932 17261586;18029348;16381901;15489336;15489334;15257293;15057824;14702039;11230166;11076863;22939629;16196087;21139048;21890473;21906983;21987572;22268729;22505724 56926 K7ELZ9;K7EMW4;K7EN96;K7ENM2;K7EQ66;Q9BQH9 ABBA01002802;ABBA01002803;ABBA01002804;AC005331;AC011547;AK022309;AK125002;AK172848;AK314044;AL136567;AL365369;AMYH01009301;AMYH01009302;BC003076;BC007275;BC008920;BC010064;BC013283;BC019091;BC025926;CH471139;CR533566;FB794076;FB826795;HB664135;HB696854;NM_020170 AAC27667;AAH03076;AAH07275;AAH08920;AAH10064;AAH13283;AAH19091;AAH25926;BAD18812;BAG36753;CAB66502;CAB96945;CAG38597;CAL37888;CAW38766;CAW54087;CBC04638;CBC26779;EAW69330;EAW69331;EAW69332;EAW69333;EAW69334;EAW69335;NP_064555;Q969V3 Hs.657032 1659630;1712158;2122164;2167002;2181039 A002R35;A009G37;G54129;RH18190;WI-15783 NET59 nicalin;nicalin homolog (zebrefish);nicastrin-like protein APPROVED protein-coding ENSG00000125912 26923 07126 609156 VALIDATED 1354049 NCOA4P1 nuclear receptor coactivator 4 pseudogene 1 14 14 14 q23.3 46403817 46406851 - 65414404 65417646 - 66344751 66347785 - 326605 ABBA01023731;AL391261;AMYH01005806;NG_002594 NCOA4P APPROVED pseudo 20022 INFERRED 1606072 NCMAP noncompact myelin associated protein 1 1 1 p36.11 23249057 23262966 + 24755189 24808403 + 24882567 24935819 + 6480464 16710414;15489334;12477932;18650334 400746 Q5T1S8 ABBA01059908;ABBA01059909;AK124519;AL445686;AMYH01000371;AMYH01000372;BC050474;BC127785;BC147014;BC147015;CB961010;CH471134;NM_001010980 AAI27786;AAI47015;AAI47016;EAW95136;NP_001010980;Q5T1S8 Hs.200253 5014063;5022450;5117897;7186214 D10S275;D15S1390;D22S275;GDB:631813 C1orf130;FLJ42528;MP11 OTTHUMP00000003372;myelin glycoprotein 11;myelin protein of 11 kDa;noncompact myelin-associated protein;uncharacterized protein C1orf130 APPROVED protein-coding ENSG00000184454 29332 16963 VALIDATED 1319167 NCOA1 nuclear receptor coactivator 1 The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 p23 24660850 24847075 + 24807346 24993571 + 2298984;2293529;2306463;2293530;2326123;5128512;5144138;5147892;6480464;6484113;6484676 14751175;17902051;11850121;14871982;17163421;16394250;19818358;11306337;19471584 15572661;12917342;9223431;19276281;19255064;19203349;19183483;19095746;19064572;18845648;18660489;18284209;17919607;17429319;17135255;16882880;16775354;16723356;16606617;16269961;15862975;15615775;15572376;15530426;15456935;15313887;15249124;15231721;14757047;14715875;14601091;12954634;12933903;12909012;12569182;12529333;12482985;12477932;12208951;12189208;12163482;12145209;12138096;12118039;12114525;12082103;12039952;12024042;11864604;11831720;11818499;11773079;11704662;11698662;11689423;11514567;11330046;11266503;11250900;11165056;11136553;11113179;11076796;11069927;11050077;11003650;10934189;10848596;10809226;10757795;10722692;10713182;10688660;10660621;10652338;10594042;10567563;10567404;10558993;10508479;10497212;10454579;10449719;10381882;10334993;10334992;9878542;9874563;9832502;9812974;9786846;9782096;9744270;9642216;9575154;9556555;9488734;9445475;9427757;9407140;9328345;9296499;9223281;9171239;9041124;8754792;8616895;7481822;15661163;9751500;15256534;11971985;11867769;11574547;9626662;10847592;15184363;15688032;15641800;9346901;10938099;10454563;9774463;10082574;10224118;10379889;10598586;10659697;10760302;10935544;11027271;11075811;11117530;11149488;11358671;20682316;12612084;12665583;12796488;16352595;16456540;16957778;19453261;19485965;19763509;19934375;19953635;20003447;20145129;20379614;19913121;20628086;21059860;14722092;17471507;17475621;17786964;9192892;9192902;9259327;11500849;11713256;12574227;12714702;14993689;15695802;16538531;18267973;18511550;9590696;9751728;9773983;9804773;9849963;21760925;17476305;22328528;23160820;20184719;21292004;22142990;12738788;21273440;22072566;10207113;11891224;15604093;15919756;17363140;9121466;20368990;10551785;11014206;11124027;11376110;12554772;12630920;16728408;17468099;22174377;15367689;20608937;22371500;10731636;12403846;12578355;18798693;15774904 8648 B5MCN7;Q6GVI5 ABBA01045118;ABBA01045119;ABBA01045120;ABBA01045121;ABBA01045122;AC013459;AC093798;AJ000881;AJ000882;AK226063;AK290019;AMYH01010173;AMYH01010174;BC035976;BC111533;BC111534;BE675986;BF975824;CB047008;CH471053;EF660499;NG_029014;NM_003743;NM_147223;NM_147233;U19179;U40396;U59302;U90661 AAA64187;AAB50242;AAC50305;AAC50631;AAI11534;AAI11535;AAX93184;ABS29266;BAF82708;CAA04371;CAA04372;EAX00746;EAX00747;EAX00748;NP_003734;NP_671756;NP_671766;Q15788 Hs.596314 1648688;1652389;1658320;1670956;1675055;1676586;1690924;1696978;1739953;1772589;1776078;1792932;2128979;2129082;2159967 A007I26;D2S1969;D2S2066;D2S2124;D2S2912;G09672;PMC170950P2;RH101961;RH45844;RH80592;RH91145;STS-AA007451;STS-N23300;WI-11298;WI-20578 F-SRC-1;KAT13A;MGC129719;MGC129720;NCoA-1;RIP160;SRC-1;SRC1;bHLHe42;bHLHe74 Hin-2 protein;OTTHUMP00000155181;OTTHUMP00000155182;OTTHUMP00000155183;OTTHUMP00000201137;PAX3/NCOA1 fusion protein;class E basic helix-loop-helix protein 74;nuclear receptor coactivator 1;protein Hin-2;renal carcinoma antigen NY-REN-52;steroid receptor coactivator 1;steroid receptor coactivator-1 APPROVED protein-coding ENSG00000084676 7668 04070 602691 REVIEWED 732737 NCOA2 nuclear receptor coactivator 2 The NCOA2 gene encodes nuclear receptor coactivator 2, which aids in the function of nuclear hormone receptors. Nuclear hormone receptors are conditional transcription factors that play important roles in various aspects of cell growth, development, and homeostasis by controlling expression of specific genes. Members of the nuclear hormone receptor superfamily, which includes the 5 steroid receptors and class II nuclear receptors (see below), are structurally characterized by 3 distinct domains: an N-terminal transcriptional activation domain, a central DNA-binding domain, and a C-terminal hormone-binding domain. Before the binding of hormone, steroid receptors, which are sometimes called class I of the nuclear hormone receptor family, remain inactive in a complex with heat-shock protein-90 (MIM 140571) and other stress family proteins. Binding of hormone induces critical conformational changes in steroid receptors that cause them to dissociate from the inhibitory complex, bind as homodimers to specific DNA enhancer elements associated with target genes, and modulate that gene's transcription. After binding to enhancer elements, transcription factors require transcriptional coactivator proteins to mediate their stimulation of transcription initiation (Hong et al., 1997 [PubMed 9111344]).[supplied by OMIM, Nov 2010] 8 8 q13.3 71186821 71478574 - 71024267 71316020 - 1580863;2326123;5128512;5144138;5147892;6480464;5688349;5688351;6484113;6484676 17163421;16394250;19818358;11306337;20660062;20166126;19471584 11675124;12796488;16957778;18798693;19641626;20047289;20379614;8670870;19453261;19277704;19264843;19255064;19240160;19183483;19095746;19052561;18845648;18660489;18656523;18281529;18174919;17704997;17081983;16649994;16613851;16410316;15988012;15766871;15731352;15698540;15657427;15641800;15563469;15557560;15231721;15207724;15184363;15072553;14662770;14500758;12970370;12756300;12682292;12676584;12588987;12481024;12477932;12208521;12151000;12145209;12130539;12089346;12082103;12060666;12050280;12024042;11986669;11981034;11971985;11937504;11931740;11818499;11704662;11518802;11477071;11266503;11250900;11050077;10944516;10748178;10692587;10617585;10598588;10594042;10478845;10381882;9812974;9717843;9590696;9558366;11014206;11376110;12554772;12630920;16728408;22337624;9430642;9111344;18499756;12612084;15684378;14966121;14593076;12810069;11851396;11514567;14578343;11085509;9920895;10706629;10454563;20374707;19913121;20628086;11964378;12503607;12714702;12893883;16645043;16860316;16923966;16930961;18511550;21195347;21220509;11117530;11500849;14757047;14766010;15919723;18267973;9751728;21059860;17697320;21492233;9192892;23160820;21370964;17363140;17476305;16051665;20448036;21139048;21735116;22034177;19471022;22379092;23132854;12403846;23000965;23252872;23144319;23247143;23319000;9774463;19828458;21049972;22581837 10499 E5RFN9;E7EWM1;F8WAJ2;H0YBB6;Q15596 ABBA01041938;ABBA01041939;ABBA01041940;AC021558;AC022730;AC084251;AC090731;AK298528;AK308426;AMYH01018782;AW504723;BC092442;BC114383;CH471068;CK141607;CQ834204;EF374064;NM_006540;X97674 AAH92442;AAI14384;ABN46991;BAG60730;CAA66263;CAH05317;EAW86963;NP_006531;Q15596 Hs.446678 1677929;1720031;1760419;1774855;1792934;1855106;2152054;2159364;2174716;2180578;2217662 A006O24;D8S2130;NCOA2_3768;PMC170950P3;RH123810;RH12853;RH91396;SHGC-142567;SHGC-58132;STS-H93122;STS-X97674 GRIP1;KAT13C;MGC138808;NCoA-2;SRC2;TIF2;bHLHe75 OTTHUMP00000227193;class E basic helix-loop-helix protein 75;glucocorticoid receptor-interacting protein-1;hTIF2;nuclear receptor coactivator 2;transcriptional intermediary factor 2 APPROVED protein-coding 7669 09066 601993 VALIDATED 1342988 NCL nucleolin Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008] 2 2 q37.1 232027703 232037449 - 232319459 232329205 - 1580863;6480464;6907045 22433872;8321232;16403913;12944467;18809582;19515042;19409963;19393617;19332556;19225898;19026635;18789156;18701711;18618420;18504038;18321972;18292223;17767916;18299322;17692122;17674968;17626252;17535846;17255095;17130237;17081983;16982033;16964243;16889753;16777843;16751805;16698799;16601700;16582966;16571724;16508016;16341674;16329155;16245305;16212410;16156786;16153722;16135517;15823039;15815621;15492114;15371412;15302935;15044383;14702039;14679209;14638862;14623863;12804115;12634843;12565890;12559966;12506112;12477932;12429849;12388589;12324461;12185196;12147681;12138209;12096904;12027446;11438699;11162542;11115514;10983978;10660576;10503877;10393184;9918513;9822633;9512561;9388266;8663258;8620867;8567649;8530516;8065311;7993898;7642087;3409881;2737305;2394707;1860869;14978336;9642267;10567518;14559993;10967121;12427757;15674325;15173179;21257709;22743058;22633274;12029088;15064750;15121898;16568080;16582619;16648475;17220478;17289661;17620599;17928403;19270065;19554553;19581307;19615975;19657047;19710015;19757191;19864385;20007282;20011528;20075200;20628027;18029348;17215513;20936779;20571027;16226712;19454010;20506485;18258596;21060685;15047060;17314511;17765891;19135240;21151833;21859890;19060367;21281639;23161541;17403666;17974993;20431927;21152024;21203423;19174163;21466159;21841784;21386990;21440621;21474449;23382938;23824909;23568457;23599269;21182205;22863883;22939629;21310483;21575138;18850631;22412018;23455922;23463506;23610125;16196087;21436219;21723257;20221403;22362753;22586326;21139048;21693764;21890473;21906983;18781797;21825151;22049078;22178446;21252943;21938743;12777385;15161933;15303970;15848144;18457437;19596686;19765186;21048921;21812966;22079093;22103682;21575459;21907836;22130536;19471022;22354986;14636574;17361185;19322201;20473970;21044950;22234250;22318319;17267499;21145461;22675465;19836239;22693611;19738201;21282530;21642987;22113938;22623428;22751105;22810585;23000965;23151878;23246001;23353999;22349377;23132587;23398456;23305559;22909121;23076205;23146273;19884766;21853274;22053931;22505724;22797925;22952844;22617883;23145133;23184937 4691 B3KM80;C9J1H7;C9JLB1;C9JWL1;C9JYW2;H7BY16;P19338 ABBA01002057;AC017104;AK000221;AK000250;AK001314;AK091742;AK095897;AK122805;AK127608;AK128584;AMYH01011558;AY320411;BC002343;BC006494;BC006516;BM761058;BQ001029;CH471063;M60858;NM_005381 AAA59954;AAH02343;AAH06494;AAH06516;AAY24247;BAC03738;BAC87055;BAG50892;BAG53161;EAW70960;EAW70961;EAW70962;EAW70963;NP_005372;P19338 Hs.79110 1679593;1713497;1734780;1793304;1858383;2165752;2217660;5017595 D2S1557E;D2S2594;NCL;NCL_3022;PMC207647P1;RH11536;RH120232;RH65048 C23;FLJ45706;FLJ59041 OTTHUMP00000204507;nucleolin APPROVED protein-coding 7667 01245 164035 REVIEWED 1317043 NCOA5 nuclear receptor coactivator 5 This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Two alternatively spliced transcript variants for this gene have been described. However, the full length nature of one of the variants has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 q12-q13.12 41401083 41430040 - 44123031 44151987 - 44689624 44718580 - 1580863;6480464 17081983;16094384;15146197;15073177;12477932;11780052;11113208;10997877;21833088;20650312;16159877;20211142;22939629;21645569;21139048;21900206;21110914;21628590 57727 Q5JY17;Q9HCD5 AB046857;ABBA01052674;AF230533;AF470686;AL035662;AL162458;AMYH01011940;BC056872;BC140836;BC151133;CH471077;CN369226;CS185596;NM_020967 AAG36793;AAI40837;AAI51134;AAO33457;BAB13463;CAJ42777;EAW75764;EAW75765;EAW75766;EAW75767;EAW75768;EAW75769;EAW75770;NP_066018;Q9HCD5 Hs.654991 1645217;1645219;1653209;1678329;1693342;2117518;2142670;2148088 A001X16;AL034496;D20S585E;G19972;RH68083;RH91408;SGC34149;STS-D25957 CIA;bA465L10.6 NCoA-5;OTTHUMP00000031198;coactivator independent of AF-2;nuclear receptor coactivator 5 APPROVED protein-coding ENSG00000124160 15909 14813 REVIEWED 5491158 NCOR1P2 nuclear receptor corepressor 1 pseudogene 2 17 17 p11.2 21476540 21485197 + 21535947 21544604 + 729490 ABBA01006766;AC138710;AC144838;AC233702;AMYH01008269;NG_006551 1299902 D17S953 pseudo 42997 INFERRED 6481140 NCOR1P3 nuclear receptor corepressor 1 pseudogene 3 7 57659500 57669798 + 100874183 ABBA01028306;AC064862;AMYH01017334;NG_032541 pseudo 42996 INFERRED 1344181 NCOA3 nuclear receptor coactivator 3 The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010] 20 20 q12 45564064 45719023 + 46130601 46285621 + 1580863;1642050;2326123;5128512;5144138;5130718;5147892;5688283;2289908;5688351;6480464;6484676;6484113 14557830;17163421;16394250;19818358;16822624;11306337;20051871;12725419;20166126;19471584 15572661;12917342;9267036;9346901;19491275;19470168;19453261;19433130;19285025;19277704;19255064;19198856;19183483;19144644;19102007;19095746;19064572;19052561;18922467;18845648;18827493;18765637;18676680;18660489;18644862;18636124;18593949;18593948;18426732;18385039;18313384;18246597;18162290;17968310;11747336;10652338;9489701;15184363;10655477;14578343;15808510;15788656;15723037;17927986;17805331;17646391;17636398;17574025;17532621;17360478;17223341;17043108;17008696;16964243;16951183;16940181;16923966;16921507;16916939;16760465;16670003;16648476;16458427;16434590;16365010;16298470;16263829;16244359;16227615;16135815;15987430;15900600;15788663;15698540;15677324;15550471;15548698;15448000;15383283;15302935;15289619;15169882;14747462;14691461;14684685;14648706;14645221;14611647;14503806;12833450;12650696;12602902;12497632;12477932;12145209;12082103;11971985;11929748;11927493;11823864;11780052;11708882;11704662;11477071;11389589;11316771;11279242;11266503;11250900;11161840;11094166;11092404;11087842;11056690;11050174;11050077;10965917;10866661;10681591;10598588;10504300;10490106;9832502;9812974;9727751;9445475;9252329;9238002;9225980;8889548;8758910;7791754;11163245;10757795;11668176;11851396;10944516;11076796;14966121;22430150;21454665;20332317;11353774;12665583;15145444;15563469;15604093;15937332;16219912;16344560;16439211;16456540;16957778;17441340;18521745;18798693;19170196;19176441;19552757;19625176;19628566;19652917;19692168;19716257;20003447;20086010;20124470;20159552;20180986;20305690;20381444;20422428;8616895;16860316;20137343;20852035;20155818;20181721;20663904;20392877;20064830;19913121;20554694;20628086;12089344;12714702;12893883;18511550;18645020;17476305;22759465;21220509;11117530;11500849;15863722;15919092;18267973;21047772;21059860;10224118;11027271;14766010;15145939;17998543;18003620;22283414;22550166;17475621;9192892;21601620;18029348;21636853;21871888;21914189;22371647;22142990;17082781;20733005;21577200;16051665;16751102;21184786;20890303;22002538;22147914;22052107;22213475;22307791;22318606;9765300;22342158;22035181;21735116;19357364;20368990;10551785;11376110;12554772;12630920;16728408;17098861;17158759;18160712;22163316;19322201;22627138;18484708;22505454;22560224;23652306;15174051;20956942;21182203;22370642;23514585;23559371;19460752;19884766;23322234 8202 C9JCR8;Q59EE8;Q9UPG7 AB209863;ABBA01052704;ABBA01052705;ABBA01052706;ABBA01052707;ABBA01052708;ABBA01052709;AF010227;AF012108;AF016031;AF036892;AK289683;AK296810;AK302588;AK302595;AK308346;AL021394;AL034418;AL353777;AMYH01011947;AMYH01011948;AMYH01011949;AMYH01011950;AMYH01011951;BC092516;BC119001;BC122547;BM692321;BU588121;CA450268;CH471077;DB091786;EF488684;NG_016810;NM_001174087;NM_001174088;NM_006534;NM_181659 AAB92368;AAC51663;AAC51677;AAC51849;AAH92516;AAI19002;AAI22548;ABO43042;BAD93100;BAF82372;BAG59383;BAG63841;BAG63847;EAW75696;EAW75697;EAW75698;EAW75699;EAW75700;EAW75701;EAW75702;NP_001167558;NP_001167559;NP_006525;NP_858045;Q9Y6Q9 Hs.592142 1340421;1645344;1652171;1659498;1668660;1674620;1693732;1772848;1788648;1791524;1796394;2118443;2123305;2131934;2145280;2155551;2178094;5118083;7185018 AL031468;D20S1123;D20S197;D20S542E;D20S951;G01531;G64267;NCOA3_1532;PMC113761P3;RH12403;RH18152;RH48397;SHGC-58803;STS-H52110;WI-21757;Z94341;Z94499;Z94538 ACTR;AIB-1;AIB1;CAGH16;CTG26;KAT13B;MGC141848;RAC3;SRC-3;SRC3;TNRC14;TNRC16;TRAM-1;bHLHe42;pCIP CBP-interacting protein;OTTHUMP00000031716;OTTHUMP00000031717;OTTHUMP00000031718;amplified in breast cancer 1 protein;class E basic helix-loop-helix protein 42;nuclear receptor coactivator 3;receptor-associated coactivator 3;steroid receptor coactivator protein 3;thyroid hormone receptor activator molecule 1 APPROVED protein-coding ENSG00000124151 7670 03570 601937 REVIEWED 735677 NCOA6 nuclear receptor coactivator 6 The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] 20 20 q11 32766239 32877094 - 33302578 33413433 - 1580863;5128512;6480464 16394250 11443112;11302752;18029348;10567404;19329434;18660489;18552123;18462265;18263591;15764585;15302935;14960326;14734562;14645241;12724417;12519782;12482968;12477932;12215545;12189208;12168954;12039952;11780052;11773444;11704680;11517327;10866662;10823961;10788465;10681503;8758910;8724849;8263591;7536696;11158331;10847592;11912212;14578865;10497212;14638867;21292004;20721975;15231748;15604093;17761849;19556342;20379614;22939629;12754253;16794079;17021013;19047629;17500065;17925232;21330447;21552418;23314748;18031289;17178841 23054 F6M2K2;Q14686 ABBA01019181;ABBA01019182;ABBA01019183;ABBA01019184;ABBA01019185;ABBA01019186;ABBA01019187;AF128458;AF171667;AF177388;AF208227;AF245115;AI498955;AK027040;AL049709;AL109824;AMYH01011866;AMYH01011867;BC035676;BC047886;BC069829;BC114613;BC136272;BU187688;CH471077;D80003;JF707637;JF707638;JF707639;L37706;NM_001242539;NM_014071 AAF13595;AAF16403;AAF37003;AAF71829;AAF78480;AAI14614;AAI36273;AEG79564;AEG79565;AEG79566;BAA11498;EAW76254;EAW76255;NP_001229468;NP_054790;Q14686 Hs.368971;Hs.736403 1661182;1672343;1739439;1855214;2110593;2174885;2177347;2178745 1444;A008I23;D20S712E;G18125;GDB:314031;NCOA6_3104.2;RH25395;RH78465 AIB3;ANTP;ASC2;HOX1.1;HOXA7;KIAA0181;NRC;PRIP;RAP250;TRBP NRC RAP250;OTTHUMP00000030705;OTTHUMP00000030706;PPAR-interacting protein;activating signal cointegrator 2;activating signal cointegrator-2;amplified in breast cancer protein 3;amplified in breast cancer-3 protein;cancer-amplified transcriptional coactivator ASC-2;nuclear receptor coactivator 6;nuclear receptor coactivator RAP250;nuclear receptor-activating protein, 250 kDa;peroxisome proliferator-activated receptor interacting protein;peroxisome proliferator-activated receptor-interacting protein;thyroid hormone receptor binding protein;thyroid hormone receptor-binding protein APPROVED protein-coding ENSG00000198646 15936 05599 605299 REVIEWED 1342633 NCR2 natural cytotoxicity triggering receptor 2 6 6 p21.1 41411506 41426603 + 41303528 41318625 + 6480464 10049942;18092004;18077718;18023431;17536787;16210654;15941912;15728472;15657183;14707061;14574404;12791260;12731048;12653925;12645956;12351833;19635919;20237496;17567994;20638936;21116278;21151495;22021614;22044312;22674989;23345327;23459936;23578092 9436 O95944 ABBA01050760;AJ010099;AJ010100;AL136967;AMYH01016291;CH471081;NM_001199509;NM_001199510;NM_004828 AAI66647;CAB52289;CAB52290;EAX04039;EAX04040;EAX04041;EAX04042;NP_001186438;NP_001186439;NP_004819;O95944 Hs.194721 1805764;1809006;1809998;1810094;1810744;1810746;1831312;1831802;1840428;1843952;1845832;1976236;1976238;1976240;1976242;1976244;1976246;1976248;1976250;1976252;1976254;1976256;1976258;1976260;1976262;1976264;1976266;1976268;1976270;1976272;1976274;1976276;1976278;1976280;1976282;1976284;1976286;1976288;1976290;1976292;1976294;1976296;1976298;1976300;1976302;1976304;1976306;1976308;1976310;1976312;1976314;1976316;1976318;1976320;1976322;1976324;1976326;1976328;1976330;1976332;1976334;1976336;1976338;1976340;1976342;1976344;1976346;1976348;1976350;1976352;1976354;1976356;1976358;1976360;1976362;1976364;1976366;1976368;1976370;1976372;1976374;1976376;1976378;1976380;1976382;1976384;2215712;2215714;2215716;2215718;2215720;2215722;2215724;2215726 ECD03833;ECD05486;ECD05991;ECD06039;ECD06367;ECD06368;ECD16792;ECD17038;ECD21400;ECD23188;ECD24135;REN59006;REN59007;REN59008;REN59009;REN59010;REN59011;REN59012;REN59013;REN59014;REN59015;REN59016;REN59017;REN59018;REN59019;REN59020;REN59021;REN59022;REN59023;REN59024;REN59025;REN59026;REN59027;REN59028;REN59029;REN59030;REN59031;REN59032;REN59033;REN59034;REN59035;REN59036;REN59037;REN59038;REN59039;REN59040;REN59041;REN59042;REN59043;REN59044;REN59045;REN59046;REN59047;REN59048;REN59049;REN59050;REN59051;REN59052;REN59053;REN59054;REN59055;REN59056;REN59057;REN59058;REN59059;REN59060;REN59061;REN59062;REN59063;REN59064;REN59065;REN59066;REN59067;REN59068;REN59069;REN59070;REN59071;REN59072;REN59073;REN59074;REN59075;REN59076;REN59077;REN59078;REN59079;REN59080;stSG634670;stSG634671;stSG634672;stSG634673;stSG634674;stSG634675;stSG634676;stSG634677 CD336;LY95;NK-p44;NKP44;dJ149M18.1 NK cell activating receptor (NKp44);NK cell-activating receptor;OTTHUMP00000016371;OTTHUMP00000016372;OTTHUMP00000016373;lymphocyte antigen 95 (activating NK-receptor; NK-p44);lymphocyte antigen 95 homolog (activating NK-receptor; NK-p44);natural cytotoxicity triggering receptor 2;natural killer cell p44-related protein protein-coding ENSG00000096264 6732 05168 604531 VALIDATED 1348400 NCOA4 nuclear receptor coactivator 4 This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009] 10 10 q11.2 51242373 51260738 + 51565108 51590734 + 1580863;2293533;2293536;2293537;2293535;2293534;6480464;6907045;7240710 16580389;11561770;11161850;12368219;15166229 15572661;15563469;8643607;15609325;19487296;18660489;18156210;18091327;17919607;17081983;16762319;16713569;16381901;16344560;15805579;15772083;15642480;15489336;15489334;12897377;12881713;12649293;12477932;12068007;11818501;11786418;11256614;11230166;11076863;10517667;10347167;10085091;9892017;9192845;8290261;8187085;8180971;7529046;12612084;11779876;22661295;11404460;10318905;9636157;16751776;20717903;20877624;10969079;16385451;19730683;20167864;20012784;21085629;21139048;21890473;21906983;15604093;18624398;21963094;22887727;22505724 8031 B2R5V0;B4DF87;B4DZ85;H0Y5U8;Q13772;Q96E88 AB064669;ABBA01033538;ABBA01033539;AK129911;AK130612;AK292480;AK293978;AK302794;AK304123;AK310849;AK312325;AL162047;AL450342;AMYH01002693;AY425959;BC001562;BC012736;CH471260;DA415606;DA860108;DB075100;L49399;NG_023372;NM_001145260;NM_001145261;NM_001145262;NM_001145263;NM_005437;X71413;X77548 AAC37591;AAH01562;AAH12736;AAR07952;ABM82524;ABM85718;ACT64385;ACT64386;BAB93520;BAF85169;BAG35247;BAG57348;BAG63997;BAG65022;CAA50536;CAA54673;CAB82390;CAL38205;EAW53686;EAW53687;EAW53688;EAW53689;NP_001138732;NP_001138733;NP_001138734;NP_001138735;NP_005428;Q13772 Hs.643658;Hs.709644 1689650;1771131;2107429;2111115;2115381;2171902;5022600;5114322 Bda68f05;D10S1389E;D10S490E;NCOA4_7912;RH1574;RH44523;WI-17185;WI-19959 ARA70;DKFZp762E1112;ELE1;PTC3;RFG 70 kDa AR-activator;70 kDa androgen receptor coactivator;NCoA-4;OTTHUMP00000019601;OTTHUMP00000019602;OTTHUMP00000019603;RET-activating gene ELE1;androgen receptor coactivator 70 kDa protein;androgen receptor coactivator, 70-kD;androgen receptor-associated protein of 70 kDa;nuclear receptor coactivator 4;papillary thyroid carcinoma 3;ret fused;ret-activating protein ELE1 APPROVED protein-coding ENSG00000138293 7671 03584 188550;601984 REVIEWED 1348152 NCOR1P1 nuclear receptor corepressor 1 pseudogene 1 20 20 20 p11.1 26100548 26111173 - 26032052 26042677 - 26084052 26094677 - 12477932;11780052 149934 Q9H4R4 ABBA01005169;AL391119;AMYH01011821;BC132806;BC132808;EH318080;NR_003678 Hs.711274 2177466 L29954 C20orf191;bB329D4.2 APPROVED pseudo ENSG00000240108 16724 VALIDATED 1350089 NCRNA00098 non-protein coding RNA 98 q22.3 10830953 54091 AW138631 Hs.565736 C21orf20 miscrna 1261 1603583 NCOA7 nuclear receptor coactivator 7 6 6 q22.32 126144000 126293950 + 126102307 126253176 + 6480464 10395741;11256614;18497940;17391516;17079118;16381901;16344560;15489336;15489334;14702039;14574404;12880961;12477932;12139968;11971969;11230166;11076863;8197458;20562859;22863883;9259327;21610108;21628590;22318606 135112 B3KXK4;H0Y5F6;H0Y620;H0Y6T0;Q5JVL1;Q5JVL2;Q5TF96;Q5TF97;Q5TF98;Q6IPQ4;Q8N3C8 AB074156;AB074157;ABBA01025945;ABBA01025946;ABBA01025947;AF493978;AJ420542;AK094706;AK127512;AK294558;AK307395;AL035689;AL078594;AL136163;AL832621;AL832628;AL834442;AMYH01016648;AMYH01016649;AY364254;BC009399;BC033612;BC036461;BC039853;BC071782;BC137094;BC137095;BX537385;CH471051;DA770225;DA992384;NM_001122842;NM_001199619;NM_001199620;NM_001199621;NM_001199622;NM_181782 AAH09399;AAH33612;AAH36461;AAH71782;AAI37095;AAI37096;AAM27392;AAQ76813;BAC04402;BAE45731;BAE45732;BAG54516;BAH11810;CAD39102;CAD89948;CAD90002;CAD97627;CAL37773;CAL38057;CAL38361;CAL38384;CAL38746;EAW48130;EAW48131;EAW48132;EAW48133;EAW48134;NP_001116314;NP_001186548;NP_001186549;NP_001186550;NP_001186551;NP_861447;Q8NI08 Hs.171426 1652745;1722555;1753723;1756029;1775321;1848526;1849394;2129602;2143289;2173061;5015861;5022578;5024039;5109281;7185938 A002T33;D10S16;D16S325;D1S1423;D1S1425;D6S1183E;D6S1476;G60205;NIB560;RH46075;RP_L38_1;SHGC-107769;SHGC-142839;SHGC-32962 ERAP140;ESNA1;FLJ45605;MGC88425;Nbla00052;Nbla10993;TLDC4;dJ187J11.3 140 kDa estrogen receptor-associated protein;OTTHUMP00000017141;OTTHUMP00000017142;OTTHUMP00000017143;OTTHUMP00000017144;TBC/LysM-associated domain containing 4;estrogen nuclear receptor coactivator 1;estrogen receptor associated protein 140 kDa;nuclear receptor coactivator 7;putative protein product of Nbla00052;putative protein product of Nbla10993 protein-coding ENSG00000111912 21081 14814 609752 VALIDATED 1625845 NCRNA00104 non-protein coding RNA 104 p22.33 and Yp11.31 100048902 AL683807 CXYorf6 protein-coding 31841 1351656 NCRNA00185 non-protein coding RNA 185 Y Y Y q11.222 6734972 6740699 + 19493775 19499502 - 21034387 21040114 - 6480464 12815422 55410 ABBA01073690;AC009235;AF119903;CH471202;NR_001544 AAF69657;EAW54674;EAW54675 Hs.138453 CYorf14;PRO2834 APPROVED miscrna ENSG00000176728 18566 VALIDATED 2300138 NCRNA00249 non-protein coding RNA 249 q21.11 552852 AA861243;AC022868;DB514724 Hs.521636;Hs.642517 C8orf23 APPROVED miscrna 2300137 NCRNA00250 non-protein coding RNA 250 q24.22 552853 T75509 Hs.575612 C8orf24 APPROVED miscrna 3277424 NCRNA00270 non-protein coding RNA 270 Y Y q11.23 9316025 9316247 - 28390498 28390720 - 9847074 100286930 AC024067 miscrna 38001 3102874 NCRNA00270B non-protein coding RNA 270B Y q11.223 25572194 25572416 + 100287666 AC006983 pseudo 38533 2837563 NCRNA00273B non-protein coding RNA 273B Y Y Y p11.2 3369361 3372630 - 10641539 10644808 - 10031539 10034808 - 100131228 AADB02037580;ABBA01031175;ABBA01031176;AC010970 pseudo 38548 4142551 NCRNA00286A non-protein coding RNA 286A 16 16 16 p13.3 155400942 155403150 - 12836 15126 + 72836 74809 + 11157797 100132169 Q96S36 AE006462;BC032901;CR605219;XR_109291;XR_115615 AAK61209;Q96S36 miscrna 38609 MODEL 730890 NCOR1 nuclear receptor corepressor 1 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010] 17 17 p11.2 15875983 16059570 - 15933408 16118874 - 1580863;2326123;2306463;5128512;5130718;5147413;5688338;6480464;5688285;6484113;6484676 17163421;11850121;16394250;16822624;20801081;10441327;22349439;19471584 9531570;9482666;9405624;9111334;8948627;18206970;12460926;9878542;11463857;12569182;11533236;10406466;15256534;14593076;10809664;11867749;15333839;15729358;15531890;12738788;15829968;15175761;12011091;12007404;11997503;11931768;11903058;11877444;11804585;11748154;11509652;11486045;11466315;11441023;11430826;11331609;11113190;11013263;10944117;10940306;10898795;10882117;10734313;10675041;10640275;10573424;10470851;10444336;10441075;10336495;10077563;9724795;9702189;9694793;19183483;19126649;19064572;19048289;18852122;18832723;18669643;18660489;18637017;18632669;18586123;18362166;17768398;17630505;17081983;17073437;16964243;16914745;16849648;16730330;16713569;16373395;16216492;16195251;16141343;16024779;15878880;15802375;15788656;15761026;15695367;15598662;15561719;15377655;15302935;15231748;15001550;14667819;14527417;14525983;12904255;12890497;12861000;12648520;12634383;12628926;12590135;12477932;12466959;12150997;12149646;12145334;12089345;12077342;7566114;18052923;19414341;20628086;19913121;10049357;11889044;12799135;15109542;15336696;15604093;16464943;16917504;17255935;17416745;17468742;18326024;19608741;19781322;19955185;20003447;20181716;17079677;18829436;18978041;19011633;19032343;20587609;17182846;17210713;19098224;19147702;19211732;19244234;20581824;20466759;11439334;11865059;11971970;12089344;12410313;12663743;12840002;12897056;14701861;15454082;15536134;15681609;15832170;15870285;15934135;16024608;16030140;16121196;16127449;16227606;16252006;16421255;16712523;18202150;18292238;21143702;14722073;17400812;17505061;17519354;17620012;20974212;10860984;10877839;11001911;14761981;14985122;14985366;15016838;15116119;15131262;9486655;9611234;9751061;9804773;9819405;9849963;21131350;21518914;17242407;22939629;21525722;20935208;21389087;16147992;21081666;21088000;21987803;11124027;15601853;17373667;17468099;20812024;21331046;21527249;21966475;17018285;22514634;19377461;21258344;21963094;21988832;22675025;21139048;21532573;21693764;21890473;19471022;22337871;22294699;9121466;23129261;16033423;22622808;16469706;22190034;22651256;15572376;17572682;23428870 9611 B4DJ25;C9JAP0;E7EVK1;E7EVU5;E7EW50;H0Y459;J3KRE4;J3KS29;J3KS51;J3KT44;J3QKP0;O75376;Q6PGR4 AB028450;AB028451;AB028970;ABBA01035661;ABBA01035662;ABBA01035663;ABBA01035664;ABBA01035665;AC002553;AC005971;AF044209;AF087856;AF303584;AF303585;AF303586;AK295893;AK302746;AK307614;AK310405;AL137641;AMYH01008146;AMYH01008147;AW015698;BC026028;BC035748;BC050594;BC056862;BC058511;BC068996;BC107772;BC142648;BC167431;BJ995810;CH471222;NM_001190438;NM_001190440;NM_006311 AAC33550;AAH26028;AAH50594;AAH56862;AAH58511;AAH68996;AAI07773;AAI42649;AAI67431;AAI72437;AAO32940;AAO32941;AAO32942;AAP97166;BAA82999;BAA83818;BAA83819;BAG58687;BAG63960;CAB70854;EAX04492;EAX04493;EAX04494;EAX04495;EAX04496;NP_001177367;NP_001177369;NP_006302;O75376 Hs.462323 1340339;1648502;1674952;1678061;1691000;1698710;1707152;1734440;1783520;2157021;2179515 D17S1410E;D17S1674;D17S1843;RH102915;RH18301;RH47121;RH81063;RH91243;SHGC-150171;SHGC-31118;SHGC-81346 KIAA1047;MGC104216;N-CoR;N-CoR1;TRAC1;hCIT529I10;hN-CoR OTTHUMP00000065575;OTTHUMP00000065577;OTTHUMP00000065578;OTTHUMP00000065580;nuclear receptor co-repressor 1;nuclear receptor corepressor 1;thyroid hormone- and retinoic acid receptor-associated corepressor 1 APPROVED protein-coding ENSG00000141027 7672 02911 600849 REVIEWED 1345600 NCRNA00291 non-protein coding RNA 291 14 14 14 q21.1 17929521 18176147 + 37142054 37235716 + 38170556 38264576 + 100499441 AL121790;AL136296;AL163151;BF063203;XR_159028;XR_159236 Hs.659936;Hs.735166 1679740 RH98459 C14orf25 chromosome 14 open reading frame 25 APPROVED miscrna 19830 MODEL 2312709 NCRUPAR non-protein coding RNA, upstream of F2R/PAR1 This non-coding RNA gene has been reported to have a positive regulatory affect during embryogenesis on the adjacent coagulation factor II (thrombin) receptor gene by Madamanchi et. al (PMID:12084570). [provided by RefSeq, Aug 2012] 5 5 q13.3 71901709 71902630 + 76008228 76008713 + 12084570 100302746 ABBA01061965;AC025188;AMYH01015419;NG_032906;NR_028375 NCRNA00193;ncR-uPAR APPROVED miscrna 37153 REVIEWED 1601692 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] 11 11 11 p15.1 17503148 17528717 + 17328796 17355464 + 17373309 17398868 + 12477932;19528259;21422170;23066150;21875946;21444796;21877119 374383 Q68D85 ABBA01061065;AC124798;AMYH01003414;BC136797;BC136800;BX537685;CR749521;NM_001202439 CAD97811;CAH18335;NP_001189368;Q68D85 Hs.146274 1669329;1769451;2117208 A002Y11;D11S2265E;SHGC-53115 B7-H6;B7H6;DKFZp686I21167;DKFZp686O24166 B7 homolog 6;OTTHUMP00000231507;OTTHUMP00000231508;natural cytotoxicity triggering receptor 3 ligand 1;putative Ig-like domain-containing protein DKFZp686O24166/DKFZp686I21167 APPROVED protein-coding ENSG00000188211 42400 16820 613714 VALIDATED 1348186 NCR1 natural cytotoxicity triggering receptor 1 19 19 q13.42 60109338 60116251 + 55417508 55424439 + 1580863;6480464 9730896;15654827;18941207;18713971;18275895;18023431;17972960;17875681;17056548;16690951;16262248;15728472;15657183;15489334;15328155;14754506;14635045;14504081;12960161;12951052;12731048;12477932;11907104;10049942;9625766;9314561;22198715;22621189;17207965;20638936;19498463;20023661;20237496;22532190;22505144;21191411;21030563;21329668;21364281;18385154;21214542;22253448;21849674;22615207;22044312;22105417;22231698;22212381;22360401;23429988;23311919;22496218 9437 M0QYD1;O76018 ABBA01068147;AC011476;AC011501;AC245128;AJ001383;AJ006121;AJ006122;AJ006123;AMYH01009976;AY346373;BC064806;CH471135;CU151839;CU459006;NM_001145457;NM_001145458;NM_001242356;NM_001242357;NM_004829 AAH64806;AAQ54328;ADQ32569;CAA04714;CAA06872;CAA06873;CAA06874;EAW72308;EAW72309;EAW72310;EAW72311;EAW72312;NP_001138929;NP_001138930;NP_001229285;NP_001229286;NP_004820;O76036 Hs.97084 1677418 RH93107 CD335;FLJ99094;LY94;NK-p46;NKP46 NK cell-activating receptor;hNKp46;lymphocyte antigen 94 homolog (activating NK-receptor; NK-p46);natural cytotoxicity triggering receptor 1;natural killer cell p46-related protein protein-coding ENSG00000189430 6731 05167 604530 VALIDATED 6481592 NCSTNP1 nicastrin pseudogene 1 21 28864437 28864580 + 100873743 ABBA01057231;AMYH01012182;AP001605;NG_032328 pseudo 39606 INFERRED 1353948 NCR3 natural cytotoxicity triggering receptor 3 The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 6 6 p21.3 31664651 31668741 - 31556660 31560762 - 1580863;6480464;7240710 21552268;22851709;22360401;22221078;16304049;10941844;7590964;19143814;19079260;18852879;18802053;18713971;18275895;18157817;18092004;18055229;18023431;17436233;17208487;16690951;16362817;16272287;15972650;15784725;15728472;15657183;15489334;14656967;14635045;14574404;12731048;12486241;12477932;11895890;11782277;10562324;10202016;8824804;21422170;19913121;20587610;20628086;20663564;19528259;19551844;19580844;19851445;17207965;20812318;20712903;23066150;21444796;23345327;22044312;21946350;23028341;23284291;23059620;22807449 259197 O95669;Q05D23 AB055881;ABBA01038081;AF031136;AF031137;AF031138;AF129756;AJ223153;AL662801;AL662847;AL929587;AMYH01016217;BA000025;BC018752;BC052582;BG744854;BX248519;BX927320;CH471081;CR753892;CR759886;CR759905;CR942185;NG_021176;NM_001145466;NM_001145467;NM_147130;Y14768 AAB86578;AAB86579;AAB86580;AAD18088;AAH18752;AAH52582;ADQ32103;BAB63393;BAB78472;CAA75063;CAA75064;CAA75065;CAA75066;CAA75067;CAA75068;CAB54004;EAX03439;EAX03440;EAX03441;NP_001138938;NP_001138939;NP_667341;O14931 Hs.509513 1679712;1684760;2106187;2110493;2148169;2168186 D6S2788;LST1_7911;RH76281;RH98851;SHGC-63639;STS-U00921 1C7;CD337;LY117;MALS;NKp30 NK-p30;OTTHUMP00000029162;OTTHUMP00000029163;OTTHUMP00000029164;OTTHUMP00000029165;activating NK-A1 receptor;activating natural killer receptor p30;lymphocyte antigen 117;natural cytotoxicity triggering receptor 3;natural killer cell p30-related protein APPROVED protein-coding ENSG00000204475 19077 11384 609148;611550 REVIEWED 3004586 NCRNA00103 non-protein coding RNA 103 X X X p22.33;Yp11.31 6816556 6837048 + 2546623 2566764 + 2546623 2566764 + 6480464 11181995;12477932;14702039 401577 AC097314;AK023533;AK125149;BC019893;CH471074;CR600952;NR_033380;NR_033381;XM_001714655;XM_001716015;XM_001717305;XM_379694 EAW98695;XP_001714707;XP_001716067;XP_001717357;XP_379694 Hs.444541 CXYorf12;FLJ43159 miscrna 18074 1321111 NCOR2 nuclear receptor corepressor 2 This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011] 12 12 q24 123374914 123586102 - 124808957 125052010 - 1625347;1580863;2314971;2298984;2306463;2326123;5128512;5130718;5147413;6480464;6484113;6484676;6907045 15334463;19904269;14751175;11850121;17163421;16394250;16822624;20801081;19471584 10713164;15016912;16129689;18052923;18029348;19417136;19223455;19183483;19098224;18950845;18852122;18838553;18660489;18632669;18487509;18362166;17991421;17902051;17383980;17081983;16712523;16480812;16453284;16373395;15843525;15802375;15713534;15635693;15632172;15319284;15302935;15300237;15146197;14715875;14690607;12840002;12771131;12589049;12554770;12477932;12441355;12388540;12242670;12139968;12107410;12011091;11997503;11972046;11931768;11929749;11929748;11867749;11845213;11804585;11739383;11726519;11585900;11559707;11509665;11435691;11331609;11134019;11113190;10944117;10809664;10777532;10406466;10395741;10097068;10077563;9765306;9751500;9702189;9267036;9225980;8889548;8813722;7566127;7566114;11158331;12460926;9878542;11518802;10898795;10611298;10644367;10757795;11013263;14982881;9256429;11430826;11404076;14527417;12628926;12502735;10640276;10640275;11466315;11959865;11923464;10869435;12970571;15729358;15531890;12738788;15494311;9486654;15175761;14593076;22695118;17475621;9171229;20555024;11259580;11509652;12007404;12072427;12665583;12904255;15062576;15231748;15604093;15878880;16030140;16042694;16147992;16219912;16893456;16924111;17347654;18546531;19432593;19730683;19851296;19934400;20003447;20198315;9405624;20392877;19144721;19211732;19244234;19955185;16956611;17073437;19617623;21083371;11865059;12205093;15454082;15536134;15681609;15832170;15837933;15870285;16002533;16024608;16121196;16144941;16382138;16481466;16613989;18347093;21143702;20965228;10049357;10082574;10860984;14985122;15016838;21240272;9415406;9819405;21131350;17000644;17126328;23117886;21518914;17242407;20935208;21139048;21532573;21693764;22294699;22318606;22508987;19471022;17043677;19596686;20364085;21081666;21088000;22185585;22230954;17560331;19377461;20195357;21258344;21282530;23015261;17356171;21624135;19734545;20812024;22292036;22337871;23055525;16033423;9380707;18212045;23562850;23221346;23225884;22576662 9612 C9J0Q5;C9J239;C9J330;C9J7T7;C9JE98;C9JFD3;C9JNV9;C9JQE8;H0YGK8;H7BZU2;H7C0P3;H7C184;H7C1J7;H7C1Y3;H7C2D4;H7C2R5;Q9Y618 AB209089;ABBA01060378;ABBA01060379;ABBA01060380;AC069261;AC073592;AC073916;AF113003;AF125672;AK127788;AMYH01004846;AMYH01004847;AMYH01004848;AMYH01004849;AMYH01004850;AY965853;BC004326;BC020427;BM687540;BU172348;BX390462;CA396349;CH471054;CN423531;CX873148;L32841;NG_022928;NM_001077261;NM_001206654;NM_006312;S83390;U80750;X79269 AAB50847;AAB91446;AAD20946;AAD22973;AAH04326;AAX77219;BAD92326;EAW98448;EAW98449;EAW98450;EAW98451;EAW98452;EAW98453;NP_001070729;NP_001193583;NP_006303;Q9Y618 Hs.137510 1337759;1342274;1662586;1670693;1674349;1677642;1678387;1684586;1684588;1705958;1706318;1716199;1761681;1763159;1764007;1764533;1765683;1766619;1772511;1789000;2109547;2136943;2181366;2186169;5022576 AF021128;D12S1611;D12S1612;D1S1361;G16002;G27367;G65579;NCOR2_7954;RH121123;RH45082;RH78821;RH79644;RH79918;RH80134;RH80812;SHGC-145659;SHGC-146890;SHGC-147666;SHGC-148126;SHGC-149122;SHGC-149920;SHGC-79687;SHGC-80723;STS-AA007694;STS-D60472 CTG26;FLJ25011;N-CoR2;SMAP270;SMRT;SMRTE;SMRTE-tau;TNRC14;TRAC;TRAC-1;TRAC1 CTG repeat protein 26;OTTHUMP00000197398;OTTHUMP00000197399;OTTHUMP00000197400;OTTHUMP00000197402;T3 receptor-associating factor;nuclear receptor corepressor 2;silencing mediator for retinoid and thyroid hormone receptors;silencing mediator of retinoic acid and thyroid hormone receptor;thyroid-, retinoic-acid-receptor-associated corepressor APPROVED protein-coding ENSG00000196498 7673 02910 600848 REVIEWED 1351739 NCSTN nicastrin This gene encodes a Type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 q22-q23 158579687 158595366 + 160313063 160328742 + 1358751;1580863;2302204;6480464;6484113;6907045;7240710 15322084;17761886 22590650;12297508;15274632;10993067;19394408;19187441;19105203;19077115;19028695;18667537;18201567;17192785;17123647;17081065;16938437;16423463;16303145;15975090;15711015;15591316;15567563;15489334;15249634;15210705;15189355;15157994;15146197;14664923;14642438;14602727;14593096;14572442;12917438;12857757;12821663;12815056;12763021;12754519;12740439;12736250;12692078;12679784;12660785;12644462;12643545;12603837;12477932;12471034;12419494;12198112;12130643;12054507;12048259;12044882;12032140;11992262;11943765;11726200;11483961;11396676;11295540;9039502;15257293;12021275;15322109;20929727;21123562;20880607;12787561;12843241;15721744;16630834;16641999;17986144;19684016;19729449;19840113;22358060;20224929;15474363;22622421;21430701;21364883;21412258;21725355;21495993;21906983;21848507;21987572;22086926;19322201;22586122;22779921;22405046;21674799;22939629;23012411;21963094;22834455;23096707;22268729;22404891;22787765 23385 E7ENA9;F6Y097;H0Y3Z4;H0Y6T7;Q5T205;Q5T209;Q5T210;Q5T211;Q92542 ABBA01016612;AF240468;AK296153;AK299142;AK310741;AK314764;AL445230;AMYH01001452;AY359120;BC047621;BC100024;CH471121;CN429672;D87442;NG_027935;NM_015331 AAG11412;AAH47621;AAQ89478;ADZ15586;BAA13383;BAG37302;BAG58892;BAG61194;EAW52720;EAW52721;EAW52722;NP_056146;Q92542 Hs.517249 1857753;2121325;2137080 RH11634;RH36199;RH71333 APH2;KIAA0253;RP11-517F10.1 ATAG1874;OTTHUMP00000031839;OTTHUMP00000031840;anterior pharynx-defective 2;nicastrin APPROVED protein-coding ENSG00000162736 17091 05584 142690;605254 REVIEWED 1348797 NDE1 nudE neurodevelopment protein 1 This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 16 16 p13.11 15651605 15726491 + 15737124 15820210 + 633389;1580863;6480464 10940388 21529751;21529752;17600710;19000741;18983980;18469343;18469341;18303022;18178387;17997972;17185386;16682949;16291865;15797709;15616553;15489334;15342556;15324660;14702039;12556484;12477932;12427674;11163258;14623284;11076968;12221128;12852856;16462731;19468067;20048338;20072148;20084519;7790358;15161933;20360068;21911489;10931877;22526350;12885786;22843697 54820 I3L2R3;I3L2R9;I3L2S8;I3L2T8;I3L3G9;I3L464;I3L522;I3L533;Q9NXR1 ABBA01048900;ABBA01048901;ABBA01048902;ABBA01048903;ABBA01048904;AC026401;AF001548;AF124431;AK000108;AK025815;AK127927;AMYH01007182;BC001421;BC033900;BP271845;CH471226;NG_021210;NM_001143979;NM_017668 AAH01421;AAH33900;BAA90949;EAW53931;EAW53932;EAW53933;NP_001137451;NP_060138;Q9NXR1 Hs.655378 1645056;1648440;1679085;1681243;1683841;1729055;1767872;1771851;2124759;2127238;2168765;2219980 D16S3302;G10522;Myh11;NDE1__6219;RH64988;RH69889;RH79576;RH91407;SHGC-5890;SHGC-60785;SHGC-61040;WI-11470 FLJ20101;HOM-TES-87;LIS4;NDE;NUDE;NUDE1 LIS1-interacting protein NUDE1, rat homolog;OTTHUMP00000160329;OTTHUMP00000160330;nuclear distribution protein nudE homolog 1;nudE nuclear distribution E homolog 1;nudE nuclear distribution gene E homolog 1 APPROVED protein-coding ENSG00000072864 17619 14815 609449;614019 REVIEWED 6481167 NDFIP2-AS1 NDFIP2 antisense RNA 1 13 80051499 80055366 - 100874208 ABBA01021691;AI025163;AL355603;AMYH01005227;NR_046685 Hs.602801 APPROVED miscrna ENSG00000232132 40844 PREDICTED 1320890 NDC80 NDC80 kinetochore complex component This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011] 18 18 p11.32 2561605 2606629 + 2571510 2616634 + 1580863;6480464 21325630;14699129;15713649;15961401;16732327;15504738;9315664;18455984;18297113;17822787;17195848;17129782;16565220;16189514;15964272;15931389;15824131;15548592;15502821;15489334;15239953;15235793;15133482;15062103;14978040;14654001;14602875;12477932;12386167;12351790;10779342;10409732;9295362;16169070;15371340;21270439;20944740;17363900;18195732;18782526;18794333;19468067;19553660;19776357;19878654;20508983;21297979;22454517;23085714;20948316;21056971;21352579;21266467;8384581;20360068;20231385;21139048;21693764;21890473;21906983;21987572;21832156;21900206;22371557;22561346;22581055;17093495;22908300;22939629;23056589;21963094;23000965;21199919;22505724 10403 A8K031;I3L0P0;I3L4G3;O14777 ABBA01049831;AF017790;AK289396;AK313184;AMYH01008776;AP005061;AP005136;BC005239;BC010171;BC035617;CH471113;CS537821;JA885919;JA886353;JA886787;JA887221;NM_006101 AAB80726;AAH05239;AAH35617;ABM81691;ABM84854;BAF82085;BAG36001;CAM84948;CCQ77692;CCQ77701;CCQ77710;CCQ77719;EAX01696;EAX01697;NP_006092;O14777 Hs.414407 HEC;HEC1;HsHec1;KNTC2;TID3;hsNDC80 NDC80 homolog, kinetochore complex component;NDC80 kinetochore complex component homolog;OTTHUMP00000162206;highly expressed in cancer protein;highly expressed in cancer, rich in leucine heptad repeats;hsHec1;kinetochore associated 2;kinetochore protein Hec1;kinetochore protein NDC80 homolog;kinetochore-associated protein 2;retinoblastoma-associated protein HEC APPROVED protein-coding ENSG00000080986 16909 06277 607272 VALIDATED 68618 NCS1 neuronal calcium sensor 1 This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q34 131974678 132038727 + 132934857 132999583 + 6480464;7204681 20668007 16189514;11092894;19091302;17672918;16837555;16402081;16344560;22227393;15489334;15164053;14760944;14726528;14702039;14607934;14512421;12928444;12783849;12496348;12477932;12351722;12244129;12006624;11836243;11825672;11606724;11526106;11115393;8889548;7488079;20479890;19322201;18029348;20468064;22863883;21808066;21737792;21875085;21139048;21890473;21777187;22999924;23000965;23535033 23413 P62166 ABBA01043967;ABBA01043968;ABBA01043969;ABBA01043970;ABBA01043971;AF134479;AF186409;AI521726;AI564128;AI768193;AK023889;AK024709;AL161981;AL360004;AMYH01021766;BC004856;BC008698;BM011362;BQ880305;BU150740;CF453730;CH471090;CK301145;DA092531;NM_001128826;NM_014286;X84048 AAF01804;AAH04856;AAP97256;CAA58867;EAW87926;EAW87927;NP_001122298;NP_055101;P62166 Hs.642946;Hs.714951 1667159;1678207;1784392;1857322 2006;A001U14;RH93523;SHGC-154599 DKFZp761L1223;FLUP;FREQ;NCS-1 OTTHUMP00000022356;frequenin homolog;frequenin-like protein;frequenin-like ubiquitous protein;neuronal calcium sensor 1 APPROVED protein-coding ENSG00000107130 3953 04500 603315 REVIEWED 1601865 NDC1 NDC1 transmembrane nucleoporin 1 1 1 p32.3 52518833 52591931 - 54005976 54076763 - 54231133 54304225 - 6480464 16600873;17081983;16779818;16710414;16702233;16565220;15489334;14702039;12958361;12477932;19703420;19782045;23314748;20360068;21987572;21139048;21890473;21906983;21963094;23000965 55706 B4DHA3;B4DZG6;G3XA81;Q9BTX1 ABBA01074731;ABBA01074732;ABBA01074733;ABBA01074734;ABBA01074735;ABBA01074736;AK001269;AK001593;AK022618;AK025450;AK091439;AK295000;AK298909;AK302910;AL049745;AL354612;AL354613;AMYH01000631;BC003082;BM554303;BX648031;CH471059;DC413103;DQ141696;NM_001168551;NM_018087;NR_033142 AAH03082;AAZ73087;BAA91592;BAB14135;BAC03665;BAG58064;BAG61017;BAG64078;CAB89725;CAB89726;EAX06731;EAX06732;EAX06733;NP_001162023;NP_060557;Q9BTX1 Hs.476525 1654441;1852533;1921220;2158444 REN31432;SHGC-74855;SHGC-74860;WI-12414 FLJ10407;FLJ12556;FLJ34120;NDC1;NET3;RP4-654H19.1 OTTHUMP00000009747;hNDC1;nuclear division cycle 1 homolog;nucleoporin NDC1 APPROVED protein-coding ENSG00000058804 25525 08547 610115 VALIDATED 1352165 NDEL1 nudE neurodevelopment protein 1-like 1 This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012] 17 17 p13.1 8279904 8312206 + 8339170 8371495 + 1580863;6480464 12506198;12477932;11163260;11163259;11163258;10737800;9110174;8619474;17600710;19632097;19492042;19251251;19198602;18845247;18784752;18469341;18421979;18400883;18347064;17997972;17494871;17060449;16682949;16291865;16203747;16189514;16005531;15728732;15572112;15489334;15342556;14970193;14962739;14702039;12812986;12796778;12621583;12556484;17035248;19622634;19927128;20048338;20084519;17207965;17043677;20168084;20462516;20936779;21036906;21092859;22453242;21832049;22373868;16344560;21139048;20360068;20880836;21948775;21998303;22430153;22832604;12885786;22843697 81565 A6NIZ0;J3KRK9;J3KSF2;J3KT16;J3QL31;J3QL85;J3QLD0;J3QRD2;J3QRZ1;J3QSD2;Q9GZM8 AA232258;AA425741;ABBA01054917;AC026130;AF038203;AF182078;AF217798;AI742227;AK056014;AK095179;AK123802;AK128514;AK299559;AL832648;AMYH01008090;AW795298;AY004871;BC026101;BP201698;CH471108;CX166766;DA256375;DB176966;DN993952;NG_029963;NM_001025579;NM_030808;R94775 AAF24516;AAF97497;AAG43425;AAH26101;ADQ32342;BAG51605;BAG61503;CAD89957;EAW90051;EAW90052;NP_001020750;NP_110435;Q9GZM8 Hs.372123;Hs.740680 1660978;1734508;2109549;2117922;2167501 D17S1452E;NDEL1_8103;RH45856;SHGC-53475;STS-N53016 DKFZp451M0318;EOPA;MITAP1;NDE1L1;NDE2;NUDEL NUDE-like protein;OTTHUMP00000135335;endooligopeptidase A;mitosin-associated protein 1;mitosin-associated protein MITAP1;nuclear distribution protein nudE-like 1;nudE nuclear distribution E homolog-like 1;nudE nuclear distribution gene E homolog (A. nidulans)-like 1;nudE nuclear distribution gene E homolog like 1;nudE nuclear distribution gene E homolog-like 1;nude nuclear distribution gene e homolog like 1 (a. nidulans);protein Nudel APPROVED protein-coding ENSG00000166579 17620 06340 607538 REVIEWED 1320732 NDFIP1 Nedd4 family interacting protein 1 The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 137569742 137615392 + 141468508 141513128 + 141488324 141534008 + 1580863;6480464;6893327 22417925 22561531;12761501;16344560;16303743;15489334;14702039;12477932;11748237;11042109;20534535;18776082;18819914;19343052;19706893;21102463;17207965;21187286;23087404;22213801;21833088;20972266;21139048;21890473;21906983;21963094;23128233 80762 Q9BT67 AA496123;AB097010;AB097037;ABBA01026388;AC011401;AI929639;AK075495;AK075524;AK124884;AK315481;AL832993;AMYH01015665;AY192728;BC004317;BX411356;CH471062;DA236494;NM_030571 AAH04317;AAP13460;ADQ31857;BAC11652;BAC11670;BAC77363;BAC77390;BAG37865;CAH56294;EAW61888;EAW61889;NP_085048;Q9BT67 Hs.653510;Hs.9788 1687540;1700086;1735522;1772322;1774009;1790753;1858120;2129459;2133577;2133579;2154703;2166652;5093652 5q31-33_33;A005V35;A009U22;D5S1650E;D5S1659E;G20540;G32844;NIB1384;RH103656;RH12496;RH47565;RH94132;WI-13415 MGC10924;N4WBP5 NEDD4 family-interacting protein 1;Nedd4 WW domain-binding protein 5;OTTHUMP00000160064;breast cancer-associated protein SGA-1M;putative MAPK-activating protein PM13;putative NF-kappa-B-activating protein 164;putative NFKB and MAPK-activating protein APPROVED protein-coding ENSG00000131507 17592 14816 612050 REVIEWED 6481394 NDP-AS1 NDP antisense RNA 1 100873919 AL034370 APPROVED miscrna 40395 1606239 NDNF neuron-derived neurotrophic factor 4 4 4 q27 119341856 119378753 - 122176232 122213123 - 121956782 121993673 - 6480464 16970039;16344560;12975309;12477932;20332099;20379614;20969804 79625 D6R972;D6RF18;Q8TB73 ABBA01044722;AC105254;AK026844;AK289615;AMYH01014490;AY358821;BC019351;BX359842;CH471056;DA807168;NM_024574 AAH19351;AAQ89180;BAB15573;BAF82304;EAX05266;NP_078850;Q8TB73 Hs.709520 1690526;2120824 D4S276;RH93971 C4orf31;FLJ23191 OTTHUMP00000163926;OTTHUMP00000220002;OTTHUMP00000220173;fibronectin type-III domain-containing protein C4orf31;protein NDNF APPROVED protein-coding ENSG00000173376 26256 08019 VALIDATED 1318271 NDOR1 NADPH dependent diflavin oxidoreductase 1 This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 9 9 9 q34.3 110614341 110615026 + 139220004 139231282 + 140100119 140113813 + 6480464 10625700;15900210;12631275;16140270;16344560;12871939;12871938;12477932;8125298;7569905;18029348;21152063;21963094;22939629;20802492;23596212 27158 D3YTG6;Q9UHB4 ABBA01022748;ABBA01022749;AF199509;AK026089;AK074403;AK225995;AK290026;AL133632;AL929554;AMYH01021893;AY077845;BC015735;BC078668;BC093782;BC111943;BC143229;BX255925;CH471090;DA408370;DA858250;NM_001144026;NM_001144027;NM_001144028;NM_014434 AAF25205;AAH15735;AAH93782;AAI11944;AAL77754;ABM83155;ABM86355;BAF82715;EAW88366;NP_001137498;NP_001137499;NP_001137500;NP_055249;Q9UHB4 Hs.512564 1697502;2139111 RH102253;RH18280 MGC138148;NR1;bA350O14.9 NADPH dependent FMN and FAD containing oxidoreductase;NADPH-dependent FMN and FAD containing oxidoreductase;NADPH-dependent FMN and FAD-containing oxidoreductase;NADPH-dependent diflavin oxidoreductase 1;Novel reductase 1;OTTHUMP00000022695;OTTHUMP00000162579 APPROVED protein-coding 29838 10444 606073 REVIEWED 1321479 NDN necdin, melanoma antigen (MAGE) family member This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008] 15 15 q11.2-q12 21481647 21483543 - 23930554 23932450 - 1580863;1601480;6480464;7240710 9630521 17353931;19386232;19058789;18660489;18272695;15978586;15489334;15247330;14593116;12913118;12716928;12477932;12414813;12198120;11959851;11813259;11439287;10965153;10915798;10347180;9422723;9354807;9302265;1394972;16169070;19517793;19626646;17207965;20538960;20665884;20029029;21150695;21543378;22305984;21912643;21364888;23000965;20864041;21139048;21890473;22046235;22442722;20301505;22905258;23549060;22691188 4692 Q99608 AB007828;ABBA01048682;AC124309;AF001013;AK129654;AK312779;AMYH01006477;BC008750;CH471151;NG_009380;NM_002487;U35139 AAB39469;AAH08750;ADQ32637;BAA22660;BAG35642;EAW57610;NP_002478;Q99608 Hs.50130 1663719;1793660;1796396 NDN_940;PMC24540P1;SGC30582 HsT16328;PWCR OTTHUMP00000159437;Prader-Willi syndrome chromosome region;necdin;necdin homolog APPROVED protein-coding ENSG00000182636 7675 03667 176270;602117 REVIEWED 1320205 NDFIP2 Nedd4 family interacting protein 2 13 13 13 q31.1 60956330 61031747 + 78953288 79026222 + 80055259 80130212 + 631861;6480464 12050153 12796489;12761501;19343052;15489334;15252135;15057823;14702039;12477932;10574461;8889548;18776082;20686608;20534535;17013377;19953087;21139048;21890473;21906983;20522958;21987572;19322201;21963094;23000965;23377640 54602 B4DGY6;H0Y8A7;H7C5F7;Q9NV92 AB032991;AB097019;AB097028;AB097029;AB097030;AB097031;ABBA01021691;ABBA01021692;AK001723;AK098708;AK294839;AK297197;AL136442;AL355603;AMYH01005227;BC021988;BC026126;BM976935;CH471093;DC320871;NM_001161407;NM_019080 AAH21988;AAH26126;BAA86479;BAA91863;BAC77372;BAC77381;BAC77382;BAC77383;BAC77384;BAG57947;BAG59684;EAW80599;NP_001154879;NP_061953;Q9NV92 Hs.525093 1648380;1653772;1670145;1681524;1686334;1769267;5124701 RH44816;RH45196;RH75306;RH78426;RH93391;STS-AA037467;WI-22692 FLJ25842;KIAA1165;N4WBP5A MAPK-activating protein PM04 PM05 PM06 PM07;NEDD4 WW domain-binding protein 5A;NEDD4 family-interacting protein 2;NF-kappa-B-activating protein 413;OTTHUMP00000018541;OTTHUMP00000214859;OTTHUMP00000214860;putative MAPK-activating protein PM04/PM05/PM06/PM07;putative NF-kappa-B-activating protein 413 protein-coding ENSG00000102471 18537 17629 610041 VALIDATED 1343189 NDP Norrie disease (pseudoglioma) This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009] X X p11.4 43692966 43717788 - 43808022 43832921 - 1600222;1580863;6480464;7240710 1303235 10484772;18029348;19373682;18387409;17955262;17334993;17325173;17296899;17158104;17050281;16714476;16381901;16344560;16052165;15799735;15609522;15489336;15489334;12546446;12477932;12145535;11748312;11337749;11322656;8252044;11285060;11076863;9407136;9382152;9143918;9143917;8990009;8946107;8589700;8268931;8240113;8069314;7993212;7835440;7795608;7627181;7558002;1307245;1303264;1303256;1303236;8298646;20053900;20227630;20427659;15035989;20491809;20801516;20340138;21179243;21832049;22563645;21736877;21159148;22183393;22321011;20301506;22246324 4693 Q00604 ABBA01046428;ABBA01046429;ABBA01046430;AK313409;AL034370;AMYH01022239;BC029901;BE139596;CH471141;DA714180;NG_009832;NM_000266;X65724;X65882 AAH29901;BAG36203;CAA46639;CAA46713;CAL37470;EAW59376;NP_000257;Q00604 Hs.522615 1656283;1661848;1702650;1744501;1745439;1745443;1745445;1745447;1745449;1745451;1793632;2108299;2177901;5117811 AF020217;GDB:511265;GDB:607650;GDB:607659;GDB:607664;GDB:607667;GDB:607670;GDB:607683;GDB:607687;NDP;NDP_8496;PMC24149P5;SHGC-12355;STS-X65724 EVR2;FEVR;ND OTTHUMP00000023168;X-linked exudative vitreoretinopathy 2 protein;norrie disease protein;norrin APPROVED protein-coding ENSG00000124479 7678 02404 300658;305390;310600 REVIEWED 1319419 NDNL2 necdin-like 2 The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011] 15 15 15 q13.1 7197619 7199278 - 27347650 27349309 - 29560353 29562020 - 6480464 18086888;15635413;15489334;15302935;14702039;12477932;11782285;14593116;20360068;20864041;21139048;21890473 56160 Q96MG7 ABBA01010386;AC061965;AF320911;AF490510;AK056957;AK074138;AMYH01006499;AU310582;BC035458;BC041166;BC053999;CH471205;NM_138704 AAG38607;AAH41166;AAH53999;AAM08357;BAB71325;BAB84964;EAW51515;NP_619649;Q96MG7 Hs.94011 1338879;1794868;2115120;2179042;5014591;5015861;5037552;7185938 D10S16;D6S1611;D8S2279;PMC64493P3;RH78472;STS-W04542;WI-17399 HCA4;MAGEG1;MAGEL3;NSE3;NSMCE3 MAGE-G1 antigen;OTTHUMP00000159576;hepatocellular carcinoma-associated protein 4;hepatocellular carcinoma-associated protein HCA4;melanoma antigen, family G, 1;melanoma-associated antigen G1;necdin-like gene 2;necdin-like protein 2 APPROVED protein-coding ENSG00000185115 7677 10503 608243 REVIEWED 1316419 NDRG1 N-myc downstream regulated 1 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 q24.3 134318596 134378680 - 134249414 134309547 - 1580863;6480464;6484113;7240710 21454613;17220478;9605764;18029348;19491262;19414333;19259744;19082468;19046768;19020710;18977241;18653908;18602353;18582504;18455888;18377423;17909017;17601350;17569115;17488873;17316623;17081983;17069588;16964243;16920733;16832411;16778198;16707596;16622835;16421571;16344560;16314423;16288478;15922294;15867226;15489334;15461589;15377670;15302935;15251988;15247272;14966915;14702039;12962147;12872253;12767066;12702552;12493777;12483528;12477932;12432451;12429530;12046693;11936845;11835375;11352569;11237058;11006124;10831399;10676663;10395947;9766676;9251681;8939898;8841199;8125298;15582665;16169070;15607035;20348948;21463610;17786215;19337694;19649210;19682504;19760510;19775754;19800102;19847997;20379614;20403915;20173668;20369286;20416281;20388062;20664979;20573444;21052891;21184144;22722710;22939629;21236457;22678098;22863883;22481237;21706236;21708134;23437357;21763068;21775055;21976667;21221878;21912630;22453918;21909787;23192272;20853080;21139048;21575456;21906983;22187533;20301641;21784644;22462691;21181370;23188716;20706999;22972152;22844455;21735144 10397 E5RG99;E5RGG6;E5RGM5;E5RH82;E5RI76;E5RIM2;E5RIR1;E5RIV1;E5RJ98;E5RJY1;E5RK17;E7ESM1;E9PDL6;Q8N959;Q92597 ABBA01014197;AF004162;AF039944;AF147402;AF192304;AF230380;AK091147;AK091269;AK095649;AK096562;AK124709;AK126924;AK129867;AK130985;AK223542;AK296794;AK297342;AK298236;AK299636;AK307829;AK308117;AMYH01019038;AU141826;AY277597;BC003175;BC006260;BX648361;CH471060;CR456842;D87953;DC343351;DC353531;NG_007943;NM_001135242;NM_001258432;NM_001258433;NM_006096;X92845 AAC13419;AAF71305;AAH03175;AAQ18036;ABM83878;ABM87198;BAA13505;BAC04597;BAD97262;BAG52292;BAG53324;BAG54074;BAG54400;BAH12432;BAH12556;BAH12741;BAH13083;CAA63430;CAG33123;EAW92164;EAW92165;EAW92166;NP_001128714;NP_001245361;NP_001245362;NP_006087;Q92597 Hs.372914;Hs.618002 1718451;1770776;1786838;2131069;2146025 D8S1397E;RH122426;RH12558;RH12615;SHGC-172455 CAP43;CMT4D;DRG-1;DRG1;GC4;HMSNL;NDR1;NMSL;PROXY1;RIT42;RTP;TARG1;TDD5 DRG-1;N-myc downstream-regulated gene 1 protein;OTTHUMP00000226721;OTTHUMP00000226723;OTTHUMP00000226725;differentiation-related gene 1 protein;nickel-specific induction protein Cap43;protein NDRG1;protein regulated by oxygen-1;reducing agents and tunicamycin-responsive protein;tunicamycin-responsive protein APPROVED protein-coding ENSG00000104419 7679 05586 601455;605262 REVIEWED 1315300 NDRG3 NDRG family member 3 20 20 20 q11.21-q11.23 31987719 32081988 - 34713583 34807895 - 35280169 35374541 - 1580863;6480464 16344560;11406283;11936845;18975380;17998568;14702039;12477932;11780052;11352569;10831399;22939629;19322201;21725618;21139048;21890473 57446 B7Z341;F8WBF9;Q5TH29;Q5TH30;Q9H3N7 AA903471;AB044943;ABBA01006585;ABBA01006586;ABBA01006587;ABBA01006588;ABBA01006589;AF308609;AK023618;AK027665;AK128068;AK295420;AK295466;AL031662;AL132768;AMYH01011883;AMYH01011884;AMYH01011885;BC136489;BC144169;CH471077;DA788570;NM_022477;NM_032013;NR_038370 AAI36490;AAI44170;AAL08807;BAB14620;BAB20067;BAB55277;BAH12059;BAH12077;EAW76109;EAW76110;EAW76111;EAW76112;EAW76113;EAW76114;EAW76115;NP_071922;NP_114402;Q9UGV2 Hs.437338 1687267;1773172;1848217;1850243;1852520;2116809;2138220;2138222;2147140;2164086;2174178;2219982;5022578 A002D04;D1S1423;D20S749;D20S788;D20S827;G09579;G19945;IB290;NDRG3__6220;RH60;RH66071;RH93517;WI-11416 FLJ13556 N-myc downstream-regulated gene 3;N-myc downstream-regulated gene 3 protein;OTTHUMP00000030882;OTTHUMP00000030884;OTTHUMP00000178597;protein NDRG3 protein-coding ENSG00000101079 14462 12007 605273 VALIDATED 732058 NDRG2 NDRG family member 2 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 14 14 q11.2 20554762 20563775 - 21484922 21493935 - 1580863;6480464 18029348;11936845;19483300;19450561;19336468;19237607;19204049;18940011;18844221;18709645;18689861;18591767;18519680;18209490;17935612;17911180;17888401;17688410;17470364;17109818;17050536;16381901;16103061;15670829;15526377;15489336;15489334;15461589;15207261;15067004;14702039;14572661;12845671;12477932;11978393;11352569;11230166;11076863;22138128;21220491;22565195;22393400;10831399;10574462;21247902;11256614;18636358;19434539;19775754;20045673;20206160;20331630;20438703;16712791;20886841;21226903;21352815;20607352;23068607;21676268;21672576;21741166;22246425;22696597;22920753;21771789;21623166;21705028;21872476;22043305;22110735;23010743;23056173;22528516;22692967;23142642;23307246;22135002 57447 B4DE86;G3V237;G3V239;G3V271;G3V280;G3V285;G3V2A6;G3V2I9;G3V2S0;G3V2T2;G3V2Y3;G3V358;G3V383;G3V392;G3V3C3;G3V3D5;G3V3L1;G3V3P1;G3V3P6;G3V3X2;G3V3X3;G3V420;G3V4S2;G3V4S9;G3V4T9;G3V4X3;G3V552;G3V578;G3V596;G3V5A6;G3V5B5;G3V5B7;G3V5D7;G3V5G0;G3V5G7;G3V5H8;G3V5L7;G3V5P9;G3V5S0;G3V5V9;H0YJ56;H0YJT9;H7C0X0;Q86U08 AB033074;ABBA01061238;ABBA01061239;AF087872;AF159092;AF304051;AK024521;AK057843;AK057847;AK090657;AK096999;AK098388;AK130029;AK293514;AL136574;AL161668;AMYH01005593;AW163815;AY028430;BC010458;BC011240;BC013209;BC093038;BG818977;BI759006;BX247987;BX248031;BX647091;BX647748;CB153966;CH471078;CR749252;NM_016250;NM_201535;NM_201536;NM_201537;NM_201538;NM_201539;NM_201540;NM_201541 AAD43131;AAH10458;AAH11240;AAH93038;AAK50340;AAL08624;AAM10500;BAA86562;BAG53405;BAG56997;CAB66509;CAD62321;CAD62350;CAH18108;CAL37549;EAW66422;EAW66423;EAW66424;EAW66425;EAW66426;EAW66427;EAW66428;EAW66429;EAW66430;NP_057334;NP_963293;NP_963294;NP_963831;NP_963832;NP_963833;NP_963834;NP_963835;Q9UN36 Hs.525205 1652117;1736412;2147882;2172827;2173618;2173620;5020948 A002P21;D14S674E;D14S775;D14S909;G35510;RH1633;T03744 DKFZp781G1938;FLJ25522;KIAA1248;SYLD N-myc downstream regulator 2;N-myc downstream-regulated gene 2 protein;NDR1-related protein NDR2;OTTHUMP00000164405;OTTHUMP00000164406;OTTHUMP00000164407;OTTHUMP00000164408;OTTHUMP00000164409;OTTHUMP00000164410;OTTHUMP00000245109;OTTHUMP00000245110;OTTHUMP00000245111;OTTHUMP00000245112;OTTHUMP00000245113;OTTHUMP00000245114;OTTHUMP00000245116;OTTHUMP00000245117;OTTHUMP00000245118;OTTHUMP00000245128;OTTHUMP00000245130;OTTHUMP00000245138;OTTHUMP00000245185;OTTHUMP00000245889;OTTHUMP00000245890;cytoplasmic protein Ndr1;n-myc downstream-regulated gene 2;protein NDRG2;syld709613 protein APPROVED protein-coding ENSG00000165795 14460 17630 605272 REVIEWED 1312297 NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009] 10 10 10 q22 68844842 68854762 - 75231675 75241348 - 75561669 75571589 - 1580863;6480464;6907045 9601056;16343444;15489334;12876215;12477932;12045103;11865082;9915799;16385451 8509 B4E139;H7C032;J3KNC8;P52849 AB208870;ABBA01020308;AC022400;AF042084;AK293527;AK298957;AK300520;AK301251;AK303648;AK310580;AMYH01002830;BC018681;BC035711;BC110588;BC110589;CH471083;NM_003635;U36601 AAB97086;AAC27120;AAH35711;AAI10589;AAI10590;BAD92107;BAG57009;BAG61053;BAG62232;BAG62818;BAG64651;EAW54525;EAW54526;NP_003626;P52849 Hs.654758 1672432;1712334;1745805;1774241;1778406;1778834;2139651;2166491;2166493;5015961 A002M12;A006I22;D15S1477;G20846;G54076;GDB:642165;RH79148;SHGC-31617;WI-12185;WI-21009 HSST2;MGC129697;MGC129705;NST2 N-HSST 2;N-heparan sulfate sulfotransferase 2;NDST-2;OTTHUMP00000019842;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2;glucosaminyl N-deacetylase/N-sulfotransferase 2 APPROVED protein-coding ENSG00000166507 7681 04465 603268 REVIEWED 733822 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 5 5 q33.1 149880623 149917966 + 149887674 149937773 + 1580863;6480464;6907045 9915799;19336475;15489334;14966466;12634318;12590599;12477932;11792394;10758005;10196134;9744796;9230113;7601448;19710461;19851296;19915053;20198315;20129923;22939629;21947487;22632162 3340 A8K8T3;E5RG24;E5RG58;E5RGN9;E7EVJ3;P52848 AB209107;ABBA01026276;ABBA01026277;AC008472;AC011383;AK292448;AK293746;AMYH01015708;BC012888;BC015828;CH471062;NM_001543;U17970;U18918;U18932;U36600 AAA67765;AAA75281;AAC27354;AAH12888;BAD92344;BAF85137;BAH11586;EAW61720;EAW61721;EAW61722;NP_001534;P52848 Hs.222055 1337507;1651418;1673423;2119402;2135224;2146230;2170466 A007E23;D5S1887;D5S2650;D5S636;HSC25B122;RH79124;WI-13830 HSST;NST1 HSNST 1;N-HSST 1;N-heparan sulfate sulfotransferase 1;NDST-1;OTTHUMP00000224347;OTTHUMP00000224348;[Heparan sulfate]-glucosamine N-sulfotransferase 1;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1;glucosaminyl N-deacetylase/N-sulfotransferase 1;heparan sulfate-N-deacetylase/N-sulfotransferase protein-coding ENSG00000070614 7680 02912 600853 VALIDATED 1322156 NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008] 4 4 4 q26 116246834 116470914 + 119174948 119396471 + 118955500 119179789 + 6480464;6907045 18692483;15815621;15489334;12975309;12477932;12417402;12070138;11087757;9915799;9847074;20549515;20332099;20379614;21948523 9348 B4DI67;O95803 ABBA01063872;ABBA01063873;AC096762;AC108201;AC110999;AC116639;AF074924;AF076605;AK295439;AMYH01014482;AMYH01014483;AY358852;BC034037;BC109309;BC109310;BE348441;CH471057;HQ234312;NM_004784 AAD15978;AAD46061;AAI09310;AAI09311;AAQ89211;AAY41001;AAY41056;BAG58379;EAX06313;NP_004775;O95803 Hs.480596 1655703;1682115;1770642;1856025;2133700;2133920;2182739;5017450 D4S851;G11814;L29670;RH17746;SHGC-19042;SHGC-50329;SHGC-67340;TAGA006 HSST3;MGC130028;MGC130029 GlcNAc N-deacetylase/ N-sulfotransferase 3;N-HSST 3;N-heparan sulfate sulfotransferase 3;NDST-3;OTTHUMP00000163902;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3;glucosaminyl N-deacetylase/N-sulfotransferase 3;hNDST-3 APPROVED protein-coding ENSG00000164100 7682 603950 REVIEWED 4890231 NDUFA12P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1 13 100680023 100680428 - 100527945 ABBA01027100;AL355338;AMYH01005334;NG_027984 pseudo 39419 INFERRED 1353588 NDRG4 NDRG family member 4 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011] 16 16 q21-q22.1 57055118 57105024 + 58497549 58547523 + 1580863;6480464;7247726;7247728;7247727 22489821;21636852;22399192 11352569;11978393;19535783;19305408;16408304;16381901;16344560;15489336;15489334;14702039;12755708;12477932;12168954;11936845;11230166;11076863;10574461;9110174;8619474;19305409;19592488;20062063;20379614;22869042;22726844 65009 B7Z9X4;H3BM40;H3BM44;H3BM83;H3BMG5;H3BMR6;H3BN53;H3BN97;H3BNB4;H3BNE7;H3BNK4;H3BNQ1;H3BNX9;H3BPH8;H3BPQ3;H3BPT6;H3BPY2;H3BQ01;H3BQ86;H3BQJ4;H3BR92;H3BRT9;H3BS80;H3BSC3;H3BST8;H3BU08;H3BU25;H3BUH4;H3BUK1;H3BVB0;H3BVF3;Q9GZM1 AB021172;AB033006;AB044944;AB044945;AB044946;AB044947;ABBA01025306;ABBA01025307;AC009118;AF007138;AF308608;AK055038;AK055148;AK124005;AK126574;AK126729;AK131248;AK296415;AK299949;AK316089;AL136584;AMYH01007713;BC001527;BC011795;CF552009;CH471092;CR936733;DA069318;DA099057;DA242460;DB498690;NM_001130487;NM_001242833;NM_001242834;NM_001242835;NM_001242836;NM_020465;NM_022910;NR_040072 AAH11795;AAL08806;ACE87837;ACT64364;BAA86494;BAB20068;BAB20069;BAB20070;BAB20071;BAB20072;BAB20073;BAB20288;BAC86600;BAD18428;BAG51454;BAG54366;BAG59078;BAG61777;BAH14460;CAB66519;CAL37972;CAL38201;EAW82977;EAW82978;EAW82979;NP_001123959;NP_001229762;NP_001229763;NP_001229764;NP_001229765;NP_065198;NP_075061;Q9ULP0 Hs.322430 1665307;1671864;1730187;1769495;1849367;1854702;2220266 A002O31;AB070095;D16S431E;HSC20H112;RH66375;UniSTS:77196;WI-14098 BDM1;DKFZp686I1615;FLJ30586;FLJ42011;KIAA1180;MGC19632;SMAP-8;SMAP8 N-myc downstream-regulated gene 4 protein;OTTHUMP00000164720;OTTHUMP00000164721;brain development-related molecule 1;protein NDRG4;smooth muscle-associated protein 8;vascular smooth muscle cell-associated protein 8 APPROVED protein-coding ENSG00000103034 14466 14817 614463 REVIEWED 1315201 NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 4 4 4 q26 113041908 113327826 - 115968368 116254481 - 115748931 116035032 - 1580863;6480464;6907045 12477932;11087757;22843503;20332099;20379614 64579 Q2KHM8;Q9H3R1 AB036429;ABBA01063846;ABBA01063847;AC093656;AC097519;AC109821;AC110777;AK289670;AMYH01014476;AMYH01014477;BC012326;BC113075;CH471057;NM_022569 AAI13076;AAI56697;BAB18535;BAF82359;EAX06309;NP_072091;Q9H3R1 Hs.591700 1652731;1666779;1695938;1751413;2114321;2120277;2152315;2176756;2180951 AFM321yb1;D4S284;D4S569;D4S613;G33509;SHGC-105246;SHGC-51315;SHGC-78892;SHGC4-1645 NDST-4;NHSST4 N-HSST 4;N-heparan sulfate sulfotransferase 4;NDST-4;OTTHUMP00000163837;bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4;glucosaminyl N-deacetylase/N-sulfotransferase 4 protein-coding ENSG00000138653 20779 10116 615039 PROVISIONAL 1350497 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008] X X q24 118889762 118894646 + 119005734 119010629 + 1580863;6480464;6907045;7240710 9878551;17209039;16729965;19343046;19185523;17262856;15854127;15489334;15038604;12477932;12084895;11937507;10330338;10200266;9224902;8938439;12611891;16169070;20153825;21906983;21963094;21596602;22505724 4694 O15239;Q6IBB5 AB451304;AB451435;ABBA01036619;AC002477;AMYH01022886;BC000266;BQ680674;CH471161;CR456889;NG_009381;NG_021227;NM_004541;U54993;X81900 AAD00084;AAH00266;BAG70118;BAG70249;CAA57489;CAG33170;EAW89840;NP_004532;O15239 Hs.534168 1856993;2150568;2164082 RH47820;RH77990;SHGC-57117 CI-MWFE;MWFE;ZNF183 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1;NADH oxidoreductase subunit MWFE;NADH-ubiquinone oxidoreductase MWFE subunit;NADH:ubiquinone oxidoreductase (complex 1);OTTHUMP00000023930;complex I MWFE subunit;complex I-MWFE;type I dehydrogenase APPROVED protein-coding 7683 02093 252010;300078 REVIEWED 7207307 NDUFA3P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 1 19 q13.31 44801249 44801574 + 100131388 ABBA01040876;AC138473;AMYH01009842;NG_030059 pseudo ENSG00000267590 45043 INFERRED 7207938 NDUFA3P3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 3 1 q42.12 226151869 226152194 + 644482 ABBA01009661;AL117348;AMYH01001775;NG_030212 pseudo 45052 INFERRED 1353803 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] 19 19 19 p13.3 5830248 5842986 - 5845686 5855025 - 5891287 5904024 - 1580863;6480464;6907045;7240710 18306244;15489334;12665801;12611891;12477932;12381726;12951057;21963094;21139048;21890473;21906983 126328 K7ELJ0;K7EQ77;Q86Y39 ABBA01055983;AC024592;AC104532;AI125604;AI272174;AJ539081;AK127692;AL546175;AMYH01009367;AY726561;BC069045;BI160094;BP432135;BQ054257;BQ671956;BQ955016;CH471139;CS072484;NG_027808;NM_001193375;NM_175614;NR_034166 AAH69045;BAC87088;CAD62165;CAI93622;EAW69131;EAW69132;EAW69133;NP_001180304;NP_783313;Q86Y39 Hs.406062 1665853;1748849 SHGC-110515;STS-N92586 B14.7;CI-B14.7;FLJ76501 CI-B14.7;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11;NADH-ubiquinone oxidoreductase subunit B14.7;complex I B14.7 subunit;complex I-B14.7 APPROVED protein-coding ENSG00000174886 20371 14818 252010;612638 REVIEWED 1603389 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 12 12 12 q22 95036378 95068792 - 93889240 93921642 - 95365104 95397489 - 6480464;6907045;7240710 10830904;12857734;15489334;12477932;10931946;10409428;9827566;8125298;12611891;23000965;20877624;18029348;21617257;21900206;21139048;21890473;21906983;20301352;20301382;20301403;22939629;22505724 55967 F8VRD8;F8VXI1;H0YID5;H0YIT1;Q9UI09 ABBA01053349;ABBA01053350;ABBA01053351;AC011598;AF112208;AF217092;AK222619;AMYH01004667;BC005936;BG943528;BM548072;BT007220;BU532909;CH471054;DW441120;NG_032672;NM_001258338;NM_018838;U34343 AAB03380;AAF17196;AAF91224;AAH05936;AAP35884;BAD96339;EAW97515;EAW97516;NP_001245267;NP_061326;Q9UI09 Hs.506374 1679011 RH41825 B17.2;DAP13 13 kDa differentiation-associated protein;13kDa differentiation-associated protein;CI-B17.2;CIB17.2;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12;NADH-ubiquinone oxidoreductase subunit B17.2;NADH: ubiquinone oxidoreductase;OTTHUMP00000242806;OTTHUMP00000242992;OTTHUMP00000242998;complex I B17.2 subunit;complex I-B17.2 APPROVED protein-coding ENSG00000184752 23987 16781 256000;614530 REVIEWED 1351390 NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa The protein encoded by this gene belongs to the complex I 42kDA subunit family. Mammalian complex I is the first enzyme complex in the electron transport chain of mitochondria. It is composed of 45 different subunits. This protein is a component of the hydrophobic protein fraction and has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234570056 234638352 - 240548829 240613471 - 240896789 240964819 - 1580863;6480464;6907045;7240710 9878551;19343046;18977241;17601350;16806233;15489334;14702039;12665801;12477932;10330338;8088812;12611891;15342556;19064571;19615732;20877624;22990118;22461910;22939629;17342744;21139048;21890473;21906983;20301352;20301382;20301403 4705 C9J6X0;E7ESZ7;F8WEH0;H7C1Y7;H7C2W5;H7C2X4;O95299;Q8N1B9;Q8WXC9 AB209440;ABBA01048858;AC013469;AC114750;AF087661;AF087854;AF453834;AK025576;AK091719;AK290778;AMYH01011615;BC003417;BC031332;BI551914;BP208667;CH471063;NG_031855;NM_004544 AAD09755;AAH03417;AAH31332;AAL50984;AAP97164;AAX93150;AAY14737;ABM81937;ABM85117;BAD92677;BAF83467;EAW71172;EAW71173;EAW71174;EAW71175;NP_004535;O95299 Hs.277677 1336468;1651679;1651681;1676362;1714839;1734908;1767323;1781282;1783986;2126805;2134919;2148649;5014051;5015621;5022200;5037552 A005S39;D11S3732;D2S1682E;D2S2285;D8S2278;D8S2279;G09855;G20470;G31180;L18426;RH120414;RH65970;RH80104;SHGC-142250;STS-Z40082;WI-22271 CI-42KD;CI-42k;FLJ21923;MGC5103 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial;NADH-ubiquinone oxidoreductase 42 kDa subunit;OTTHUMP00000164498;OTTHUMP00000201633;OTTHUMP00000201634;OTTHUMP00000201635;complex I 42kDa subunit;complex I-42kD APPROVED protein-coding ENSG00000130414 7684 11950 256000;603835 REVIEWED 1606902 NDUFA4P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 1 1 1 p13.3 106222504 106223004 + 107849143 107849772 + 108047750 108048250 + 21145461 360165 ABBA01028428;AC114491;AF206638;AMYH01000883;NG_002998 1686040;2182864;2220624 RH70516;SHGC-75243;UniSTS:486201 NDUFA4 pseudo 29835 INFERRED 1348333 NDUFA4P2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 2 3 q13.11 102959833 102960078 + 20379614 100287880;404215 ABBA01061756;AC021064;AC025028;AC117484;AMYH01013366;NG_022262 1708330;1710132;1715209;1717565;1753499 RH119855;RH122087;SHGC-107397;SHGC-81553;SHGC-81564 NDUFA4L;bcm1723 APPROVED pseudo 31362 INFERRED 1350399 NDUFA5P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 1 11 p15 3343099 3344020 + 737635 9021153 4699 AC109309;NG_031920 APPROVED pseudo 7689 INFERRED 7247097 NDUFA5P12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 12 100288013 ABBA01018446;AC120036;AMYH01018700;NG_030254 pseudo 48854 INFERRED 7246995 NDUFA5P3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 3 100288035 ABBA01065196;AL391834;AMYH01019269;NG_021609 pseudo 48845 INFERRED 7247200 NDUFA5P4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 4 100128136 ABBA01064982;AL133410;AMYH01019347;NG_030085 pseudo 48846 INFERRED 7247191 NDUFA5P5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 5 100130327 ABBA01004639;AC117510;AMYH01013327;NG_030112 pseudo 48847 INFERRED 7246990 NDUFA5P6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 6 100288339 ABBA01060317;AC006065;AMYH01004862;NG_030134 pseudo 48848 INFERRED 7246967 NDUFA5P9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 9 100289579 ABBA01040482;AL355354;AMYH01016487;NG_030181 pseudo 48851 INFERRED 1323447 NDUFA3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 19 19 19 q13.42 51645840 51649962 + 59297972 59302080 + 54606160 54610281 + 1580863;1300048;6480464;6907045 17601350;15489334;12477932;11042152;9878551;19343046;18977241;12611891;20877624;21048031;21890473;23006423 4696 A8MUI2;A8MVM8;A8MYJ8;F2Z2C6;H7C0D7;H7C2R1;O95167;Q6FGG4 ABBA01068175;AC012314;AF044955;AF070653;AK289489;AMYH01009976;BC011021;BC022369;BC061644;CH471135;CR542143;NM_004542 AAD05420;AAD20959;AAH22369;AAH61644;ABM82286;ABM85466;BAF82178;CAG46940;EAW72179;EAW72180;EAW72181;EAW72182;EAW72183;EAW72184;NP_004533;O95167 Hs.198269 1804492;1810342;1820786;2040992;2040994;2040996;2040998;2041000;2041002;2041004;2041006;2041008;2041010;2041012;2041014;2041016;2041018;2041020;2041022;2041024;2041026;2041028;2041030;2041032;2041034;2041036;2041038;2041040;2103558;2103560;2103562;2103564;2103566;2161833;5016933 D9S923;ECD03174;ECD06163;ECD11468;REN91530;REN91531;REN91532;REN91533;REN91534;REN91535;REN91536;REN91537;REN91538;REN91539;REN91540;REN91541;REN91542;REN91543;REN91544;REN91545;REN91546;REN91547;REN91548;REN91549;REN91550;REN91551;REN91552;REN91553;REN91554;RH41817;stSG605786;stSG605787;stSG605788;stSG605789;stSG605790 B9;CI-B9 CI-B9;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3;NADH-ubiquinone oxidoreductase B9 subunit;OTTHUMP00000067461;OTTHUMP00000194974;OTTHUMP00000194975;OTTHUMP00000194976;OTTHUMP00000197710;complex I B9 subunit;complex I-B9 protein-coding 7686 04830 603832 VALIDATED 1320645 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 5 5 5 q31.2 136101693 136104115 - 140005142 140007424 - 140024948 140027370 - 1580863;1300048;6480464;6907045;7240710 9878551;17209039;18513682;15489334;15341729;12477932;11042152;9763676;9425316;18826940;8889548;20713893;12611891;20877624;21832049;22939629;21900206;19738201;22623428;20301352;20301382;20301403 4695 O43678 AA993683;AB054976;ABBA01026423;AC116353;AF047185;AF077029;AMYH01015661;BC003674;BM706616;BQ054127;CH471062;CR457016;NG_021417;NM_001185012;NM_002488;NR_033697;Y16003 AAC04270;AAD27762;AAH03674;BAB21453;CAG33297;EAW62031;NP_001171941;NP_002479;O43678 Hs.75914 1657850;2127317;2175572;5093984 A010A06;G33038;RH78253;RH78886 B8;CD14;CIB8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2;NADH-ubiquinone oxidoreductase B8 subunit;NADH-ubiquinone oxidoreductase subunit CI-B8;OTTHUMP00000159890;OTTHUMP00000223709;complex I B8 subunit;complex I-B8 APPROVED protein-coding ENSG00000131495 7685 11883 256000;602137 REVIEWED 1606289 NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009] 19 19 p13.2 19487540 19500073 + 19627019 19639013 + 6480464;6907045;7240710 10924506;12611891;16826196;12867595;17209039;18022871;17928352;17823279;17616678;17523870;15489334;15367666;15342556;15231747;12837546;12628925;12477932;12163600;11522775;10931946;10926209;10810093;15753091;20522552;20478305;20505682;20877624;20595633;16341674;17297443;17626740;18278448;18287540;19642906;19622307;22990118;17500595;22939629;23124042;18029348;21351527;21827581;16196087;20186120;21040996;21765936;21664299;21139048;21890473;21906983;22105514;21963094;22492280;22573109;23271731;23386605;22505724 51079 B4DEZ3;B4DF76;J3KN00;K7EJE1;K7EP87;Q9P0J0 ABBA01051334;ABBA01051335;AC011448;AF261134;AF286697;AK293859;AMYH01009609;BC000589;BC009189;BG705222;BG724220;BM839920;BP230223;CH471106;DB450544;NG_013380;NM_015965 AAG28167;AAG44670;AAH00589;AAH09189;BAG57254;EAW84826;NP_057049;Q9P0J0 Hs.534453 1794590;5095018 PMC321570P5;TSSK6 B16.6;CDA016;CGI-39;FLJ58045;FLJ59191;GRIM-19;GRIM19 CI-B16.6;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13;NADH-ubiquinone oxidoreductase B16.6 subunit;OTTHUMP00000221579;cell death regulatory protein GRIM-19;cell death-regulatory protein GRIM19;complex I B16.6 subunit;complex I-B16.6;gene associated with retinoic and IFN-induced mortality 19 protein;gene associated with retinoic and interferon-induced mortality 19 protein APPROVED protein-coding 17194 09452 607464;609435 REVIEWED 1352480 NDUFA4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] 7 7 7 p21.3 10947593 10954592 - 10939340 10946338 - 10971580 10979813 - 1580863;6480464;6907045 9878551;16729965;15489334;12690205;12477932;9352085;21145461;12611891;20877624;21832049;20972266;21139048;21890473;21906983;19822128 4697 O00483 AACC02000009;ABBA01056550;ABBA01056551;AC007029;AF201077;AK024837;AK130950;AMYH01017072;BC101794;BC101796;BC105295;BG623521;CH236948;CH471073;CR407618;CR541716;NM_002489;U94586 AAB52726;AAF09253;AAI01795;AAI01797;AAI05296;CAG28546;CAG46517;EAL24297;EAW93630;EAW93631;EAW93632;NP_002480;O00483 Hs.50098 1648397;1686040;2182864;2220624 RH36185;RH70516;SHGC-75243;UniSTS:486201 CI-9k;CI-MLRQ;FLJ27440;MGC104422;MGC126843;MGC126845;MLRQ Complex I 9kDa subunit;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4;NADH-ubiquinone oxidoreductase MLRQ subunit;OTTHUMP00000115954;complex I-MLRQ APPROVED protein-coding ENSG00000189043 7687 04831 603833 REVIEWED 1601990 NDUFA4L2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 12 12 12 q13.3 57282913 57288773 - 55914953 55920812 - 57628686 57634545 - 6480464;6907045 16169070;15489334;14702039;12477932;10931946 56901 G3V560;Q9NRX3 ABBA01026707;AC137834;AF164796;AK094275;AK129629;AMYH01004513;BC011910;CH471054;CR457176;NM_020142 AAF80760;AAH11910;CAG33457;EAW97002;EAW97003;NP_064527;Q9NRX3 Hs.744062 1682139;1775592;1789098;2139180;2183429;2184840 G65683;L11932;RH15808;RH47705;RH71214;STS-W84778 FLJ26118;NUOMS NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2;NADH-ubiquinone oxidoreductase MLRQ subunit homolog;NADH:ubiquinone oxidoreductase MLRQ subunit homolog;OTTHUMP00000245714 protein-coding ENSG00000185633 29836 14249 PROVISIONAL 1349430 NDUFA9P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 22 22 22 q12.3 20095782 20097064 - 34623159 34624308 - 36293180 36294467 - 10978293 266625 ABBA01055427;AF196991;AL079295;AMYH01012747;NG_002366;NG_029628 1681227;1760315 D22S971E;SHGC-170363 dJ106I20.2 pseudo 19252 INFERRED 7242081 NDUFA6-AS1 NDUFA6 antisense RNA 1 (head to head) 12477932;14702039;16344560 100132273 ABBA01055661;ABBA01055662;ABBA01055663;AK123630;AL021878;AMYH01012809;BC039542;BX247885;DA317430;NR_034118;XR_172382 Hs.709677 1659210;1665522;1684572;1700664;2111962;2129527 A008Y37;D22S1585;RH103955;RH78147;SHGC-32373;WIAF-1615 miscrna ENSG00000237037 45273 VALIDATED 1320359 NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 22 22 22 q13.2 26287732 26293090 - 40811476 40816834 - 42481530 42486888 - 1580863;1300048;6480464;6907045 9878551;12857734;17209039;19343046;18977241;17601350;15489334;15461802;12477932;10830953;10591208;9763676;9425316;9345899;16169070;12611891;20819778;20877624;21139048;21890473;21906983 4700 P56556;R4GN43 ABBA01055661;AF047182;AK291874;AK316562;AL021878;AMYH01012809;BC002772;CH471095;CR456529;CR456714;CR541997;NM_002490 AAC04267;AAH02772;ABM83892;ABM87213;BAF84563;BAG38151;CAG30415;CAG32995;CAG46794;CAK54560;CAK54859;EAW60489;NP_002481;P56556 Hs.274416 1665522;1681153;1700664;2129527;2147157 A008Y37;RH103955;RH75430;RH78147;WI-20966 B14;CI-B14;LYRM6;NADHB14 Complex I-B14;LYR motif-containing protein 6;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6;NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6;NADH-ubiquinone oxidoreductase B14 subunit;OTTHUMP00000199679;complex I B14 subunit protein-coding ENSG00000184983 7690 11884 602138 VALIDATED 735249 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble "iron-sulfur protein" (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes. [provided by RefSeq, Jul 2008] 7 7 7 q31.33 117984821 118001712 - 122968319 122985194 - 123181083 123197958 - 737635;1580863;1300048;2302319;6480464;6907045 9021153;8875451 9878551;19343046;16189514;15489334;14702039;12853948;12477932;10343126;10330338;9847074;9763677;9048877;21145461;12611891;19064571;19615732;20379614;20825370;20877624;21832049;22939629;17314511;19850743;21139048;19738201 4698 C9IZN5;F8WAS3;H7BYD0;Q16718;Q5H9R2 AACC02000001;ABBA01057733;AC073323;AF044418;AK022209;AK315458;AMYH01017903;BC000813;BC020821;BC070236;BC070237;BT006695;CH236947;CH471070;CR933664;NM_005000;U53468;U64028 AAB02224;AAB37259;AAD21526;AAH00813;AAH20821;AAH70236;AAH70237;AAP35341;AAQ96854;BAB13985;BAG37845;CAI45962;EAW83587;EAW83588;EAW83589;EAW83590;EAW83591;EAW83592;EAW83593;NP_004991;Q16718 Hs.651219 1677310 Bda54h11 B13;CI-13KD-B;CI-13kB;DKFZp781K1356;FLJ12147;NUFM;UQOR13 Complex I-13KD-B;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5;NADH-ubiquinone oxidoreductase 13 kDa-B subunit;OTTHUMP00000212002;OTTHUMP00000212003;OTTHUMP00000212004;OTTHUMP00000212005;complex I 13kDa subunit B;complex I subunit B13;nadh dehydrogenase (ubiquinone) 1 alpha subcomplex 5;type I dehydrogenase;ubiquinone reductase APPROVED protein-coding ENSG00000128609 7688 03398 601677 REVIEWED 1312128 NDUFA7 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011] 19 19 19 p13.2 8232759 8242806 - 8282234 8292280 - 8376184 8386280 - 1580863;1300048;6480464;6907045 11042152;9763676;9345899;16169070;9878551;19343046;18977241;17601350;15489334;12477932;11318610;12611891;20877624;16344560;22939629;21890473;22505724 4701 O95182;Q6FG42 ABBA01010852;AC010323;AF050637;AF054178;AMYH01009439;BC003102;BC107892;CR456915;CR542266;DA189271;NG_028213;NM_005001 AAC99399;AAD05427;AAH03102;AAI07893;CAG33196;CAG47062;NP_004992;O95182 Hs.333427 1669246;1772769;1849595;2131038;2135747;2165238;5097045 D19S1020;G62109;RH77704;RH78597;RP_S28_1;SGC30650;WI-17737 B14.5a CI-B14.5a;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7;NADH-ubiquinone oxidoreductase subunit B14.5a;complex I B14.5a subunit;complex I-B14.5a APPROVED protein-coding ENSG00000267855 7691 11885 602139 REVIEWED 1314815 NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95554625 95570387 - 123946158 123961919 - 124906337 124922098 - 1580863;1300048;6480464;6907045 9860297;19343046;18977241;17601350;15489334;12477932;11349233;10330338;9763677;9760212;9150947;9878551;12611891;20379614;20877624;21310150;17314511;18029348;21890473;21139048;21906983;21987572;22505724;21963094;23000965;23251661 4702 F5H7V7;P51970 ABBA01043709;AF044953;AK314135;AL162423;AMYH01021694;BC001016;BU602971;CH471090;NM_014222 AAD42056;AAH01016;BAG36825;EAW87511;NP_055037;P51970 Hs.495039 1712282;2108301;2118859;5110987 G54050;NDUFA8_8498;RH78545;WI-16104 CI-19KD;CI-PGIV;MGC793;PGIV NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8;NADH-ubiquinone oxidoreductase 19 kDa subunit;NADH:ubiquinone oxidoreductase PGIV subunit;OTTHUMP00000022034;complex I PGIV subunit;complex I-19kD;complex I-PGIV APPROVED protein-coding ENSG00000119421 7692 04525 603359 REVIEWED 6770085 NDUFAF4P1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 1 15 49448495 49450822 + 16344560 100306975 ABBA01039130;AC013452;AMYH01006630;BF680393;DB321794;NR_036507 Hs.692164 pseudo 44194 VALIDATED 7174913 NDUFAF4P2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 2 7 q21.3 93474101 93474624 + 402676 AACC02000014;ABBA01045787;AC002076;AMYH01017695;CH236949;NG_008702 pseudo 44541 INFERRED 7174905 NDUFAF4P3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 3 3 37831412 37831936 - 100422532 ABBA01024842;AC093415;AMYH01013088;NG_025565 pseudo 44542 INFERRED 7174752 NDUFAF4P4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 4 1 q25.1 174818811 174819306 - 100128889 ABBA01027875;AL161671;AMYH01001513;NG_030201 2148036 AL009530 pseudo 44543 INFERRED 1313754 NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 16 16 16 p12.2 22370508 22385819 - 23499836 23515140 - 23592335 23607639 - 1580863;1300048;6480464;6907045 9878551;10234612;19343046;19221180;18977241;18230186;17601350;17554300;15489334;12882974;12477932;10493829;9763677;1907568;12611891;20877624;21890473;21628590 4706 H3BNE8;H3BNK3;I3L505;O14561 ABBA01017067;AC002400;AC008870;AF087660;AK311877;AMYH01007382;BC058920;BI603093;CH471145;EF036489;EF036490;NM_005003 AAC05814;AAD23566;AAH58920;ABO65075;ABO65076;BAG34818;EAW55815;EAW55816;NP_004994;O14561 Hs.189716 1690274;1690724;1849232;2140962;2140964;2159885 A005L06;G20300;RH64954;RH93191;SGC33525;SHGC-32823 ACP;FASN2A;MGC65095;SDAP CI-SDAP;NADH-ubiquinone oxidoreductase 9.6 kDa subunit;NADH:ubiquinone oxidoreductase SDAP subunit;OTTHUMP00000122463;acyl carrier protein, mitochondrial;complex I SDAP subunit;mitochondrial acyl carrier protein protein-coding ENSG00000004779 7694 11951 603836 VALIDATED 1314685 NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011] 15 15 15 q11.2-q21.3 18447525 18462613 - 39466843 39481934 - 41679547 41694658 - 1580863;6480464;7240710 11935339;17557076;17383918;17344420;16218961;15489334;12477932;10810093;9769214;17353931;16189514;19834535;20877624;11329013;20552642;21931170;18029348;23128233 51103 H0YL22;H0YNB7;H0YNN4;Q9Y375 ABBA01038409;ABBA01038410;AC087721;AF151823;AI911511;AK309889;AK310983;AMYH01006570;AMYH01006571;AMYH01006572;BC000780;BG192055;CH471125;NG_031924;NM_016013;NR_045620 AAD34060;AAH00780;EAW92487;EAW92488;EAW92489;NP_057097;Q9Y375 Hs.106529 1689366;1721989;2140669 G59880;RH65372;RH78362 CGI-65;CGI65;CIA30 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1;NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1;OTTHUMP00000160860;complex I intermediate-associated protein 30, mitochondrial APPROVED protein-coding ENSG00000137806 18828 09500 252010;606934 REVIEWED 1316424 NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010] 12 12 12 p13.3 6380296 6418724 + 4628544 4666660 + 4758264 4796720 + 1580863;1300048;6480464;6907045;7240710 8486360;9878551;11112787;17353931;17209039;19027726;18977241;17601350;16806233;15489334;12477932;8012384;1832859;12611891;15965058;16023078;18287540;19064571;16712791;17207965;20877624;18794531;23223238;17500595;22939629;17342744;20186120;18485875;21139048;21890473;21906983;19103604;22114105;20301352;20301382;20301403;19738201;21963094 4704 F5GY40;F5H0J3;H0YGX0;Q16795 ABBA01048764;AC005832;AF050641;AK291067;AK308588;AMYH01004197;BC003351;BC009311;BC015837;BC111546;CB110957;CH471116;L04490;NG_032124;NM_005002;R44283;X76665 AAA36350;AAD42055;AAH03351;AAH09311;AAH15837;AAI11547;ADQ31784;BAF83756;CAA54099;EAW88837;EAW88838;EAW88839;NP_004993;Q16795 Hs.75227 1681227;1760519;1769757;1851354;2184178;5022578 D12S2027;D1S1423;D22S971E;RH17595;SHGC-143746;SHGC-30312 CC6;CI-39k;CI39k;MGC111043;NDUFS2L;SDR22E1 CI-39kD;NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase);NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial;NADH-ubiquinone oxidoreductase 39 kDa subunit;OTTHUMP00000238362;complex I 39kDa subunit;complex I-39kD;short chain dehydrogenase/reductase family 22E, member 1 APPROVED protein-coding 7693 04832 256000;603834 REVIEWED 1604552 NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008] 5 5 5 q12.1 57182020 57389876 + 60276798 60484609 + 60240956 60448864 + 6480464;7240710 17383918;16200211;15774466;15489334;12477932;19064571;19384974;20308990;20379614;20571988;20877624;22939629;21890473;23000965;20301352;20301382;20301403 91942 D6RA56;H0YA50;Q8N183 AB183433;ABBA01015806;ABBA01015807;ABBA01015808;ABBA01015809;ABBA01015810;ABBA01015811;ABBA01015812;ABBA01015813;AC008498;AC022445;AF087990;AI352161;AK026051;AK291296;AMYH01015112;AMYH01015113;BC001753;BC033965;BC070357;CH471123;NG_008978;NM_174889 AAH01753;AAH33965;ADZ16005;BAD91205;BAF83985;EAW55008;NP_777549;Q8N183 Hs.591757 1679614;1776516;1792880 L28196;PMC166200P3;RH41106 B17.2L;FLJ22398;MMTN;NDUFA12L;mimitin B17.2-like;Myc-induced mitochondrial protein;NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2;NDUFA12-like protein;OTTHUMP00000161882;OTTHUMP00000221703;mimitin, mitochondrial APPROVED protein-coding ENSG00000164182 28086 14288 252010;256000;609653 REVIEWED 1601767 NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009] 3 3 3 p21.31 49014631 49017650 + 49032912 49035932 + 49057908 49060928 + 6480464;7240710 19463981;15489334;15231747;12653254;12477932;11256614;9349717;8889548;20877624;22939629;20186120;21139048;18624398;21150319 25915 A4FU71;Q9BU61;Q9Y3Z0 AA907148;ABBA01024618;AC137630;AL049955;AMYH01013155;BC002873;BC111004;BM354128;BM559881;BM985326;BQ652614;CD358942;CH471055;NG_016282;NG_033126;NM_199069;NM_199070;NM_199073;NM_199074 AAH02873;AAI11005;CAB43224;EAW64942;EAW64943;EAW64944;EAW64945;NP_951032;NP_951033;NP_951047;NP_951056;Q9BU61 Hs.31387 2177968 SHGC-76932 2P1;C3orf60;DKFZp564J0123;E3-3;MGC10527 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3;OTTHUMP00000210565;OTTHUMP00000210566;OTTHUMP00000210567;OTTHUMP00000210568;nuclear protein E3-3 APPROVED protein-coding 29918 16809 252010;612911 REVIEWED 1602217 NDUFAF7 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 2 2 2 p22.2 37299729 37317266 + 37312278 37329807 + 37458774 37476303 + 6480464 22857522;12477932;20406883;20877624;21832049;20360068;21890473 55471 B4E0W7;C9J236;C9JEL7;C9JP36;C9JS27;H7C3N5;Q7L592 ABBA01074978;AC007390;AK294240;AK299015;AK302150;AK303555;AMYH01010259;BC004548;BC012374;BC035265;BC065206;BI334629;BM172474;BX538031;CH471053;NM_001083946;NM_144736 AAH04548;AAH12374;AAY14816;BAG57536;BAG61095;BAG63521;BAG64579;CAD97976;EAX00400;EAX00401;EAX00402;NP_001077415;NP_653337;Q7L592 Hs.433466 5024756 RH80030 C2orf56;MidA;PRO1853 NADH dehydrogenase [ubiquinone] complex I, assembly factor 7;OTTHUMP00000158583;OTTHUMP00000201359;OTTHUMP00000201362;mitochondrial dysfunction protein A homolog;protein midA homolog, mitochondrial APPROVED protein-coding ENSG00000003509 28816 15180 VALIDATED 2289754 NDUFB11P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 1 11 11 11 q14.3 89373659 89374234 - 91708846 91709310 - 92069104 92069679 - 390239 ABBA01040057;AMYH01003946;AP000722;NG_009688 NDUFB11P APPROVED pseudo 33980 INFERRED 1603903 NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011] 8 8 8 q22.1 92222445 92256164 + 96106397 96140114 + 96037214 96070944 + 6480464;7240710 15342556;12477932;18614015;20877624;16341674;16344560;19463981;20552642;22019594;20301352;20301382;20301403;23509070 137682 B4DW83;E5RFN5;E5RGD6;E5RHX9;H0YB05;H0YB46;H0YBQ9;H0YBT9;H0YC61;H7C250;Q330K2 AA489642;AA625387;ABBA01037472;ABBA01037473;AC068189;AK298631;AK301414;AMYH01018897;AY444560;BC028166;BF030925;BM755491;BP275471;BQ447469;CH471060;DA897677;NG_016647;NM_152416 AAH28166;AAS68536;ABM82567;ABM85756;BAG60807;BAG62945;EAW91733;EAW91734;EAW91735;EAW91736;EAW91737;EAW91738;NP_689629;Q330K2 Hs.729144 1676668 RH99063 C8orf38;MGC40214 C8orf38 protein;NADH dehydrogenase (ubiquinone) complex I, assembly factor 6;OTTHUMP00000196526;OTTHUMP00000196528;OTTHUMP00000196529;UPF0551 protein C8orf38, mitochondrial;phytoene synthase-like;putative phytoene synthase APPROVED protein-coding ENSG00000156170 28625 17553 256000;612392 REVIEWED 3516303 NDUFB1P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 2 1 1 q41 196338158 196338333 + 223119067 223119242 + 100380272 ABBA01048045;AC093152;AMYH01001748;NG_009243;NG_016728 pseudo 37815 INFERRED 2301484 NDUFB1P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 1 3 3 p21.31 48171957 48172277 + 48222961 48223281 + 100190952 ABBA01024656;AC104190;AC124916;AMYH01013148;NG_008709 NDUFB1P;bcm3095 APPROVED pseudo 30893 INFERRED 6769226 NDUFB2-AS1 NDUFB2 antisense RNA 1 7 q34 140395136 140396877 - 100134713 AACC02000020;ABBA01034085;AC006344;AK129584;AMYH01017991;CH236950;NR_024454 Hs.743663 1652244;2135183;5022578 D1S1423;D4S3183;D7S2105E APPROVED miscrna ENSG00000240889 40396 VALIDATED 1343021 NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009] 6 6 6 q16.1 97979234 97987815 - 97445609 97452476 - 97337187 97345767 - 6480464;7240710 19463981;19352385;18179882;17909269;17001319;16344560;15489334;15342556;14871833;14574404;12477932;11042152;20877624;22939629;21963094;23670274;21890473;21906983;18029348 29078 Q9P032 ABBA01014522;AF060508;AF161474;AK026245;AK311850;AL159985;AMYH01016528;BC018802;BC039464;BP258367;CH471051;DA129473;DB253189;NG_013379;NM_014165 AAF29089;AAG43126;AAH39464;ADR82677;BAG34792;EAW48501;NP_054884;Q9P032 Hs.512144 1667983;1678237;2147077;5112177 RH102131;RH26154;SHGC-52655;STS-R50676 C6orf66;HRPAP20;HSPC125;My013;bA22L21.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4;NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4;OTTHUMP00000016882;hormone-regulated proliferation-associated protein of 20 kDa;hormone-regulated proliferation-associated protein, 20 kDa APPROVED protein-coding ENSG00000123545 21034 10795 252010;611776 REVIEWED 1345244 NDUFB3P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 1 1 1 p13.3 107904468 107905041 - 109436512 109437285 - 109635089 109635662 - 11474204 93993 ABBA01068371;AL356488;AMYH01000928;NG_000954 pseudo 13673 INFERRED 1347557 NDUFB3P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2 9 9 9 q33.3 98588727 98589030 - 126980513 126981016 - 127940793 127941096 - 11474204 93994 ABBA01043776;AC009195;AL445930;AMYH01021710;NG_000955 pseudo 13674 INFERRED 1603963 NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 20 20 20 p12.1 13835718 13869123 + 13713682 13745874 + 13765672 13799067 + 6480464;7240710 18940309;14702039;12477932;16344560;19542079;20379614;16712791;17207965;21607760;21890473 79133 B3KR61;Q5TEU4 AA252680;AA789132;ABBA01053974;AK025977;AK091060;AK289781;AL109657;AL161659;AMYH01011725;BC005984;BC073158;BM993545;CB156360;CH471133;DA289766;NG_015811;NM_001039375;NM_024120;NR_029377 AAH05984;AAH73158;ADQ32043;BAB15305;BAF82470;BAG52273;EAX10311;NP_001034464;NP_077025;Q5TEU4 Hs.472165 2133003;2179824 RH45884;SGC38153 C20orf7;FLJ22324;MGC90272;bA526K24.2;dJ842G6.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5;OTTHUMP00000030304;OTTHUMP00000030305;OTTHUMP00000162656;probable methyltransferase C20orf7, mitochondrial APPROVED protein-coding ENSG00000101247 15899 12780 252010;612360 REVIEWED 1342871 NDUFB3P4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 14 14 14 80887560 80888015 + 99902579 99903234 + 100832925 100833380 + 11474204 93995 ABBA01048530;AL135838;AL157871;AMYH01006010;NG_000956;NG_029914 1700072 RH103649 pseudo 13676 INFERRED 1350421 NDUFB3P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3 14 14 14 q22.1 33528380 33528849 + 52548300 52548959 + 53478647 53479116 + 11474204 93996 ABBA01018180;AL352979;AMYH01005738;NG_000957 pseudo 13675 INFERRED 1350721 NDUFB1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa 14 14 14 q32.12 72635062 72640748 - 91652220 91657906 - 92582467 92588153 - 1580863;6480464;6907045 9878551;16189514;15489334;12477932;11042152;9763677;9653160;9425316;12611891;21832049;22190034 4707 H0YJA6;O75438 ABBA01030457;ABBA01030458;AF050638;AK316557;AL121773;AMYH01005958;BC009691;BC104672;BC126232;BC126234;BM052981;BX476462;CH471061;NM_004545 AAD42054;AAH09691;AAI04673;AAI26233;AAI26235;ADR82802;BAG48175;EAW81476;EAW81477;EAW81478;EAW81479;NP_004536;O75438 Hs.183435 2144158 G36104 CI-MNLL;CI-SGDH;MNLL NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1;NADH-ubiquinone oxidoreductase MNLL subunit;OTTHUMP00000245341;complex I MNLL subunit;complex I-MNLL protein-coding 7695 11952 603837 VALIDATED 7241955 NDUFB4P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 1 100288654 ABBA01030880;AC112213;AMYH01013257;NG_030111 pseudo 45248 INFERRED 7241991 NDUFB4P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 2 100132036 ABBA01015796;AC008804;AMYH01015105;NG_012967;NG_027957 pseudo 45250 INFERRED 1606190 NDUFB3P5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5 X X X 140608010 140608470 - 140302507 140303107 + 140474941 140475401 + 12477932;11474204 93997 ABBA01023076;AC234779;AL050308;AMYH01023085;NG_000958 pseudo 13677 INFERRED 1321883 NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 16 16 16 p13.3 2221698 2224158 + 1949520 1951977 + 2009517 2011976 + 1580863;1300048;6480464;6907045 9878551;14557246;18977241;17601350;16537434;15489334;15342556;12477932;11157797;11042152;9763677;12611891;20877624;17500595;22939629;22990118;21139048;21890473;21906983;21987572;21963094;22190034;22321370;22505724 4716 A8K761;H3BPJ9;H3BV16;O96000;Q96II6 ABBA01030285;AC005363;AE006640;AF044954;AF067169;AF088991;AF088995;AK291876;AK311744;AMYH01007046;BC005829;BC007509;BP319067;CH471112;NM_004548 AAD05419;AAD08677;AAD16091;AAD32453;AAH05829;AAH07509;AAK61302;BAF84565;BAG34687;EAW85597;EAW85598;NP_004539;O96000 Hs.513266 PDSW CI-PDSW;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10;NADH ubiquinone oxidoreductase PDSW subunit (RH 16p13.3);NADH-ubiquinone oxidoreductase PDSW subunit;OTTHUMP00000158897;complex I PDSW subunit;complex I-PDSW protein-coding ENSG00000140990 7696 11958 603843 VALIDATED 1317724 NDUFB2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008] 7 7 7 q34 135118531 135128501 + 140042950 140052915 + 140396481 140406446 + 1580863;1300048;6480464;6907045 9878551;15489334;14718445;12690205;12477932;11042152;9847074;9763677;12611891;19064571;20877624 4708 A4D1T5;C9IZW8;C9IZZ2;C9JRV4;C9JXM4;F8WCJ6;H7C5B8;O95178;Q9Y6T4 AACC02000020;ABBA01034085;ABBA01034086;AC006344;AF050639;AF067166;AMYH01017991;BC001168;BC063026;CH236950;CH471070;CR542121;NM_004546 AAD05428;AAD32450;AAD43191;AAH63026;CAG46918;EAL24024;EAW83958;EAW83959;EAW83960;EAW83961;EAW83962;NP_004537;O95178 Hs.655788 1652244;1681177;2135183 D4S3183;D7S2105E;RH78683 AGGG;CI-AGGG;MGC70788 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial;NADH-ubiquinone oxidoreductase AGGG subunit;OTTHUMP00000212131;OTTHUMP00000212135;OTTHUMP00000212136;complex I AGGG subunit;complex I-AGGG APPROVED protein-coding ENSG00000090266 7697 11953 603838 REVIEWED 1321815 NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012] 2 2 2 q31.3 195691087 195705098 + 201644779 201658710 + 201936462 201950473 + 1580863;1300048;6480464;6907045;7240710 9878551;16341674;15489334;12477932;11474204;11161814;9425316;16169070;12611891;19773279;20877624;21832049;22277967;21139048 4709 C9JKQ2;O43676 ABBA01062530;ABBA01062531;AC007272;AF035839;AF047183;AMYH01011401;BC018183;BM848639;BU188560;CH471063;CR456924;NG_032156;NM_001257102;NM_002491 AAC04268;AAC15590;AAH18183;AAX88972;ABM82357;ABM85532;CAG33205;EAW70233;EAW70234;NP_001244031;NP_002482;O43676 Hs.109760 B12;CI-B12 CI-B12;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3;NADH-ubiquinone oxidoreductase B12 subunit;OTTHUMP00000163716;OTTHUMP00000206487;OTTHUMP00000206488;OTTHUMP00000206489;complex I B12 subunit;complex I-B12 APPROVED protein-coding ENSG00000119013 7698 11954 252010;603839 REVIEWED 1343797 NDUFB8P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 14 14 14 q24.3 54134238 54134903 + 73167821 73168678 + 74098160 74098825 + 9847074 326606 ABBA01030750;AC005225;AMYH01005845;NG_002595 2132175 G38169 pseudo 20023 INFERRED 2289736 NDUFB8P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2 17 17 17 q23.1 54425857 54426516 + 55317158 55317692 + 57962351 57963010 + 23251661 729565 ABBA01003180;AC004686;AMYH01008526;NG_007663 2116779 SHGC-30060 pseudo 33978 INFERRED 2293159 NDUFB8P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 11 11 11 p13 34842911 34879213 + 34652446 34688287 + 34695770 34731811 + 100132286 ABBA01060863;ABBA01060864;AC087783;AMYH01003488;AMYH01003489;NG_007868 2174931 AFM205YG5 pseudo 33979 INFERRED 1347474 NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa NDUFB11 is a component of mitochondrial complex I. Complex I catalyzes the first step in the electron transport chain, the transfer of 2 electrons from NADH to ubiquinone, coupled to the translocation of 4 protons across the membrane (Carroll et al., 2002 [PubMed 12381726]).[supplied by OMIM, Feb 2009] X X X p11.23 51196935 51199928 - 46886563 46889381 - 47001615 47004609 - 1580863;6480464;6907045 17292333;15772651;15489334;14702039;12975309;12477932;12381726;10544803;8889548;12611891;22939629;21900206;21139048;21890473;21906983;18029348 54539 Q7Z4X2;Q9NX14 AA287166;ABBA01052306;AF044213;AF134476;AF251063;AK000501;AL513366;AMYH01022258;AY359056;BC010665;BC107805;BU682304;CH471164;CR457239;CS488904;NG_012548;NM_001135998;NM_019056 AAH10665;AAI07806;AAK34953;AAL32064;AAP97253;AAQ89415;BAA91208;CAG33520;CAM55978;EAW59281;EAW59282;NP_001129470;NP_061929;Q9NX14 Hs.521969 2158362 RH12608 CI-ESSS;ESSS;FLJ20494;MGC111182;NP17.3;Np15;P17.3 CI-ESSS;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial;NADH-ubiquinone oxidoreductase ESSS subunit;OTTHUMP00000023193;OTTHUMP00000023194;complex I NP17.3 subunit;complex I-ESSS;neuronal protein 17.3 APPROVED protein-coding ENSG00000147123 20372 02323 300403 VALIDATED 1316046 NDUFB4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009] 3 3 3 q13.33 118724522 118730652 + 121797818 121803865 + 120315128 120321258 + 1580863;1300048;6480464;6907045 9878551;12857734;16806233;15489334;12477932;9653160;12611891;20877624;22939629;17342744;21139048;21890473;21906983;22354994 4710 C9JXQ9;F2Z3P9;O95168 ABBA01016493;AC009289;AC126182;AF044957;AMYH01013424;BC000855;BC034579;BC070285;BC146885;BC146887;BC146927;BC146932;BF212059;BF978138;CB215975;CH471052;NM_001168331;NM_004547 AAD05421;AAH00855;AAH70285;AAI46886;AAI46888;AAI46928;AAI46933;ABM82022;ABM85199;ABM85204;EAW79525;NP_001161803;NP_004538;O95168 Hs.304613 1734258;2118887;2148823;2171071;2171812 A004I45;D3S2749E;RH66724;SHGC-32031;SHGC-77248 B15;CI-B15;MGC5105 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4;NADH-ubiquinone oxidoreductase B15 subunit;OTTHUMP00000215355;OTTHUMP00000215356;complex I B15 subunit;complex I-B15 APPROVED protein-coding ENSG00000065518 7699 11955 603840 REVIEWED 1314222 NDUFB5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 3 3 3 q26.33 177753453 177773165 + 180805269 180824982 + 179322575 179342288 + 1580863;1300048;6480464;6907045 9878551;19343046;19034380;18977241;17601350;15489334;14702039;12477932;9425316;12611891;18029348;19064571;17207965;20877624;16344560;22939629;21139048 4711 E7EWP0;F8WDD2;F8WDZ2;H0Y886;H7C568;H7C5C1;O43674 ABBA01058530;AC090425;AF047181;AK055159;AK313822;AMYH01013688;AW955118;BC005271;BC009796;BC017909;BC093071;BG776403;BX648034;CD364869;CH471052;DA112751;NM_001199957;NM_001199958;NM_002492 AAC04266;AAH05271;AAH09796;AAH17909;AAH93071;ADQ33155;BAB70865;BAG36557;EAW78385;EAW78386;EAW78387;EAW78388;EAW78389;EAW78390;EAW78391;EAW78392;EAW78393;NP_001186886;NP_001186887;NP_002483;O43674 Hs.730674 1735164;2138874;5037552;5118444 D11S3316;D3S2816E;D8S2279;SHGC-77568 CI-SGDH;CISGDH;DKFZp686N02262;FLJ30597;MGC111204;MGC12314;SGDH NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial;NADH-ubiquinone oxidoreductase SGDH subunit;OTTHUMP00000212214;OTTHUMP00000212215;OTTHUMP00000212257;OTTHUMP00000212259;complex I SGDH subunit;complex I-SGDH APPROVED protein-coding ENSG00000136521 7700 11956 603841 REVIEWED 5508033 NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome 11. The read-through transcripts share sequence identity with the upstream gene product and one variant has a frameshifted C-terminal region derived from the downstream gene exons. [provided by RefSeq, Feb 2011] 11 q14.1 77726761 77791265 - 20967262 100532726 E9PQ53;E9PRQ4 ABBA01017414;ABBA01017415;ABBA01017416;AK313892;AMYH01003825;AP003032;BG723290;FY211285;FY212410;FY212967;FY213449;NM_001203260;NM_001203261;NM_001203262 BAG36615;E9PQ53;NP_001190189;NP_001190190;NP_001190191 Hs.407860;Hs.709780 1669525;1678615;1773874;1851362;2147479;2174895 RH45705;RH47260;RH80555;SHGC-32876;SHGC-53311;WI-20939 FLJ94527 NDUFC2-KCTD14 protein;OTTHUMP00000233777;OTTHUMP00000246872 protein-coding 42956 VALIDATED 1318388 NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14568834 14574833 - 14537890 14543886 - 14676890 14682889 - 1580863;1300048;6480464;6907045 9878551;19343046;18977241;17601350;15489334;12477932;10931946;10830904;10330338;9763677;2302251;12611891;20877624;16712791;21310150;22939629;21139048;21906983 4713 M0R3B8;P17568 ABBA01029659;ABBA01029660;AC010527;AF112200;AF217091;AMYH01009536;BC002595;BU565399;CB124371;CH471106;CR450354;M33374;NM_004146;Y15998 AAA35675;AAF17188;AAF91223;AAH02595;ABM82825;ABM86011;CAG29350;EAW84436;NP_004137;P17568 Hs.532853 5016885 RH98824 B18;CI-B18;MGC2480 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7;NADH-ubiquinone oxidoreductase B18 subunit;cell adhesion protein SQM1;complex I B18 subunit;complex I-B18 APPROVED protein-coding ENSG00000099795 7702 11957 603842 REVIEWED 1322768 NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011] 9 9 p21.1 32543523 32563182 - 32553524 32573182 - 1580863;1300048;6480464;6907045 16712791;9878551;17209039;19265027;17948130;15489334;15164053;14702039;12477932;11349233;11042152;10330338;9763677;9760212;7236204;12611891;19064571;11329013;15342556;18614564;20877624;21139048;21832049;22939629;21964293;18029348;21890473;18485875;22610502;22505724 4712 O95139 ABBA01065079;AF035840;AF067167;AK092649;AK289702;AL353671;AMYH01019320;AW160372;BC009801;BC016708;BC029247;BG220924;BI669356;BP208846;BU952486;CB140469;CH471071;CR456920;NG_011511;NM_001199987;NM_002493;NM_182739 AAC68838;AAD32451;AAH09801;AAH29247;BAF82391;CAG33201;EAW58541;EAW58542;EAW58543;NP_001186916;NP_002484;NP_877416;O95139 Hs.493668 1682363;2166815;2173864 G30177;RH81057;STS-H04756 B17;CI;MGC13675 CI-B17;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6;NADH-ubiquinone oxidoreductase B17 subunit;NADH-ubiquinone oxidoreductase beta subunit, 6;OTTHUMP00000021179;OTTHUMP00000021180;complex I, mitochondrial respiratory chain, B17 subunit;complex I-B17 APPROVED protein-coding ENSG00000165264 7701 04504 603322 REVIEWED 1319298 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 10 10 10 q24.31 96021344 96027467 - 102273487 102279626 - 102283497 102289636 - 1580863;1300048;6480464;6907045 9878551;11256614;18977241;17727244;17601350;16806233;15489334;15164054;12477932;11230166;11042152;10570959;9763676;9345899;8889548;16169070;12611891;18029348;19064571;22939629;21078624;21139048;21890473;21906983;21988832;23362303 4714 E9PIZ8;O95169;Q5W143;Q5W145 ABBA01063225;AF044958;AF077028;AF115968;AK289579;AL080056;AL133352;AMYH01003000;BC000466;BC019276;CF127298;CH471066;CR533490;NM_005004;Y18944 AAD05422;AAD27761;AAH00466;AAH19276;AAP97239;ABM84212;ABM87617;ACE86557;ACE87239;BAF82268;CAB45691;CAB46274;CAG38521;EAW49819;EAW49820;NP_004995;O95169 Hs.523215 2116779 SHGC-30060 ASHI;CI-ASHI NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial;NADH-ubiquinone oxidoreductase ASHI subunit;NADH:ubiquinone oxidoreductase ASHI subunit;OTTHUMP00000020833;OTTHUMP00000020835;OTTHUMP00000020836;complex I ASHI subunit;complex I-ASHI protein-coding ENSG00000166136 7703 11886 602140 VALIDATED 1316117 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 8 8 8 q13.3 121739460 121750342 + 125620524 125631408 + 125551343 125562227 + 1580863;1300048;6480464;6907045 8661098;18977241;17601350;16189514;16169070;15489334;12477932;11042152;10944468;10737800;10077726;9763677;9878551;12611891;19064571;20471030;20877624;17500595;22939629;18029348;18624398;21139048;21890473;21906983;22200994;15146197;21988832;23000965 4715 E7EWZ0;E9PF49;E9PH64;Q9Y6M9 ABBA01037900;AC090198;AF044956;AF067168;AF261090;AI907018;AK026538;AK313432;AL136714;AMYH01019009;BC007672;BG703246;BG991068;BQ685604;CH471060;CN410734;NM_001278645;NM_001278646;NM_005005;S82655 AAB46797;AAD32452;AAD42057;AAF99683;AAH07672;BAG36223;CAI46222;EAW92068;NP_001265574;NP_001265575;NP_004996;Q9Y6M9 Hs.15977 5117196;5123319 GDB:451700;STS-AA037796 B22;CI-B22;DKFZp566O173;FLJ22885;LYRM3;UQOR22 CI-B22;LYR motif-containing protein 3;NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9;NADH-ubiquinone oxidoreductase B22 subunit;OTTHUMP00000228301;OTTHUMP00000228302;OTTHUMP00000228303;OTTHUMP00000228304;complex I B22 subunit;complex I-B22 protein-coding ENSG00000147684 7704 03264 601445 VALIDATED 1353150 NDUFC1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 4 4 4 q31.1 137543240 137555875 - 140430541 140436407 - 140211071 140223705 - 1580863;6480464;6907045 9425316;9878551;15489334;14702039;12477932;11042152;9763677;9653160;15146197;16341674;8889548;16712791;18029348 4717 O43677;Q6IAZ9 ABBA01069954;AC024032;AC097376;AF047184;AF047435;AK023115;AK291147;AMYH01014571;BC101798;BC107682;BC112061;BG701467;BM768825;BU677336;CA313899;CB047240;CB160001;CH471056;CN347371;CR457005;CX163301;NM_001184986;NM_001184987;NM_001184988;NM_001184989;NM_001184990;NM_001184991;NM_002494;W56292;Y16002 AAC04269;AAC39886;AAI01799;AAI07683;AAI12062;AAY40949;BAF83836;CAG33286;EAX05121;NP_001171915;NP_001171916;NP_001171917;NP_001171918;NP_001171919;NP_001171920;NP_002485;O43677 Hs.84549 2152198 SHGC-67742 KFYI;MGC117464;MGC126847;MGC138266 CI-KFYI;NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial;NADH-ubiquinone oxidoreductase KFYI subunit;OTTHUMP00000164544;OTTHUMP00000164545;OTTHUMP00000220054;OTTHUMP00000220055;complex I KFYI subunit;complex I-KFYI APPROVED protein-coding ENSG00000109390 7705 11959 603844 REVIEWED 6893024 NDUFS5P1 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 1 q23.3 100996944 AL023284;NG_033277 pseudo 44039 INFERRED 6484033 NDUFS5P2 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 2 1 p21.3 97049963 97050343 - 100286918 ABBA01045485;AL139347;AMYH01000813;NG_021376 pseudo 44040 INFERRED 6484036 NDUFS5P3 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 3 1 p32.3 53174753 53175229 + 100288149 ABBA01074765;AC099784;AMYH01000621;NG_021377 1736680 D17S1505E pseudo 44041 INFERRED 6483981 NDUFS5P4 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 4 4 q23 99897810 99898294 - 9847074 100287817 ABBA01063667;AC019131;AMYH01014418;NG_021378 pseudo 44042 INFERRED 6483980 NDUFS5P5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 5 4 q26 119321551 119322023 - 9847074 100128177 ABBA01063876;AC096762;AMYH01014483;NG_021379 pseudo 44043 INFERRED 6484023 NDUFS5P7 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 7 17 q11.2 27348219 27348712 - 100130794 ABBA01015034;AC024619;AMYH01008285;NG_012737 1856169 SHGC-74636 pseudo 44045 INFERRED 1316748 NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa 11 11 11 q14.1 75087861 75099744 - 77457044 77468579 - 77779393 77791265 - 1580863;6480464;6907045 11042152;9878551;11256614;18977241;17601350;16381901;15489336;15489334;14702039;12477932;12045112;11230166;11076863;12611891;19064571;19834535;19913121;20628086;20877624;21509594;23028138;18029348;21139048;21890473;21906983;19322201;22505724 4718 E9PM14;E9PRJ5;O95298 ABBA01017414;AF070652;AF087659;AF087899;AF369951;AF369952;AK022785;AK023013;AK098173;AL050278;AMYH01003825;AP003032;BC007323;BE740715;BX281908;CA414824;CH471076;CR533448;NM_001204054;NM_001204055;NM_004549 AAD09754;AAD20958;AAH07323;AAM21294;AAM21295;AAP97198;CAB43379;CAG38479;CAL37591;EAW75046;EAW75047;NP_001190983;NP_001190984;NP_004540;O95298 Hs.407860 1662742;1669525;1670166;1678403;1773874;1846785;1851362;2110595;2130732;2145248;2160650;2174895;5022651;5037552 D11S2232E;D11S2921;D11S4683;D8S2279;NDUFC2_8500;RH12275;RH45705;RH47260;RH68571;RH80571;SHGC-32876;SHGC-34949;SHGC-53311;WI-11845 B14.5b;CI-B14.5b;HLC-1;NADHDH2 CI-B14.5b;HLC-1;NADH dehydrogenase [ubiquinone] 1 subunit C2;NADH-ubiquinone oxidoreductase subunit B14.5b;OTTHUMP00000233778;OTTHUMP00000233779;OTTHUMP00000233781;complex I subunit B14.5b;complex I-B14.5b;human lung cancer oncogene 1 protein protein-coding ENSG00000151366 7706 11960 603845 VALIDATED 1350002 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 2 2 q33-q34 206696048 206732432 - 206987803 207024243 - 1556706;1580863;6480464;6484690;6484688;6907045;7240710 11349233;21196577;21518732 21203893;15824269;16478720;16870178;9878551;1935949;15186778;19405953;19343046;18977241;17601350;15815621;15489334;12477932;6439716;1505218;21145461;12611891;19064571;19615732;19836344;20843780;8889549;20382551;20877624;21183487;17500595;22939629;23106098;21252943;16196087;17314511;20186120;22360420;21540367;22586326;19738201;21080425;21139048;21906983 4719 B4DJ81;C9JPQ5;E5KRK5;F8WDL5;Q8TCC9 AA150435;ABBA01062649;ABBA01062650;AC007383;AK098395;AK295705;AK295966;AK295987;AK298320;AK300585;AMYH01011436;AW074155;BC004133;BC012068;BC018900;BC022368;BC030833;BQ882763;CA419316;CH471063;DC413278;HQ205706;HQ205707;HQ205708;HQ205709;HQ205710;HQ205711;HQ205712;HQ205713;HQ205714;HQ205715;HQ205716;HQ205717;HQ205718;HQ205719;HQ205720;HQ205721;HQ205722;HQ205723;HQ205724;HQ205725;HQ205726;HQ205727;HQ205728;HQ205729;HQ205730;HQ205731;HQ205732;HQ205733;HQ205734;HQ205735;HQ205736;HQ205737;HQ205738;HQ205739;HQ205740;HQ205741;HQ205742;HQ205743;HQ205744;HQ205745;NG_009248;NM_001199981;NM_001199982;NM_001199983;NM_001199984;NM_005006;X61100 AAH12068;AAH22368;AAH30833;AAY15061;ADP91534;ADP91535;ADP91536;ADP91537;ADP91538;ADP91539;ADP91540;ADP91541;ADP91542;ADP91543;ADP91544;ADP91545;ADP91546;ADP91547;ADP91548;ADP91549;ADP91550;ADP91551;ADP91552;ADP91553;ADP91554;ADP91555;ADP91556;ADP91557;ADP91558;ADP91559;ADP91560;ADP91561;ADP91562;ADP91563;ADP91564;ADP91565;ADP91566;ADP91567;ADP91568;ADP91569;ADP91570;ADP91571;ADP91572;ADP91573;BAG58551;BAG58743;BAG58762;BAG60573;BAG62283;CAA43412;EAW70379;EAW70380;NP_001186910;NP_001186911;NP_001186912;NP_001186913;NP_004997;P28331 Hs.471207;Hs.598436 1340753;1673467;2142029;2181568;2191127;2219984;5491838 D2S1782;MARC_14924-14925:1012937004:1;NDUFS1;NDUFS1__6223;RH48316;RH70856;SHGC-11975 CI-75Kd;CI-75k;MGC26839;PRO1304 NADH-coenzyme Q reductase;NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial;OTTHUMP00000163806;OTTHUMP00000206341;OTTHUMP00000206342;OTTHUMP00000206343;OTTHUMP00000206344;OTTHUMP00000206345;complex I 75kDa subunit;complex I, mitochondrial respiratory chain, 75-kD subunit;complex I-75kD;mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit APPROVED protein-coding 7707 01145 157655;252010 REVIEWED 1316107 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 q23 159435729 159450809 + 161169105 161184185 + 1600573;1580863;1300048;6480464;6484699;6482269;6482255;6907045;7240710 11220739;20876714;20819849;18682780 22036843;9647766;9878551;14749350;19463981;12857734;17209039;11112787;9585441;18977241;17601350;16806233;15489334;15250827;12477932;8125298;1832859;21145461;19064571;19423540;19615732;20237496;20406964;20438785;8889548;12611891;19913121;20628086;20877624;19688755;21832049;22939629;17314511;20186120;21150319;21988832;23266820;21139048;21900206;21906983;17725712;22797925 4720 B7Z792;B7Z9L2;O75306 ABBA01016596;AF013160;AF050640;AF183172;AF183173;AK222618;AK301641;AK309871;AK314807;AK315977;AL590714;AMYH01001457;BC000170;BC001456;BC008868;CA312786;CH471121;NG_013352;NM_001166159;NM_004550 AAC27453;AAC34362;AAG13808;AAG13809;AAH00170;AAH01456;AAH08868;ABM85013;BAD96338;BAH13528;BAH14348;EAW52625;EAW52626;NP_001159631;NP_004541;O75306 Hs.173611 1715741;2161288 RH119317;RH70304 CI-49 CI-49kD;NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial;NADH-ubiquinone oxidoreductase 49 kDa subunit;NADH-ubiquinone oxidoreductase NDUFS2 subunit;OTTHUMP00000032241;complex 1, mitochondrial respiratory chain, 49-KD subunit;complex I 49kDa subunit;complex I-49kD APPROVED protein-coding ENSG00000158864 7708 04285 252010;602985 REVIEWED 1342584 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. [provided by RefSeq, Jul 2008] 5 5 q11.1 52892242 53014925 + 52856465 52979171 + 1580863;6480464;6484689;6484691;6484669;6484662;6484698;6907045;7240710 18396137;21383081;12616398;22535952;19107570 20301352;16478720;15038602;16870178;14765537;11165261;11181577;9463323;9878551;11112787;19343046;18977241;18555024;18291624;17601350;17438127;16094384;15975579;15489334;12944388;12477932;12206907;12084824;11940698;11860175;9763677;1900194;22407105;17207965;20877624;12611891;18029348;19064571;19364667;21832049;22939629;21988832;21139048;21945319;22198267;20301382;20301403;23378164 4724 D6R916;D6REP1;D6RI09;H0Y9M8;O43181 ABBA01015719;ABBA01015720;AC008901;AC024569;AF020351;AI001139;AK307973;AMYH01015084;BC005270;BU954271;CH471123;DB489661;NG_008200;NM_002495 AAB87865;AAH05270;ADQ32498;EAW54884;NP_002486;O43181 Hs.528222 1784926;1784928;1847045;2145452 D5S1732;SHGC-100364;SHGC-100842;STS-H45672 AQDQ;CI-18 CI-18 kDa;CI-AQDQ;NADH dehydrogenase (ubiquinone) iron-sulfur protein 4;NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial;NADH-coenzyme Q reductase, 18-KD;NADH-ubiquinone oxidoreductase 18 kDa subunit;OTTHUMP00000122466;OTTHUMP00000221839;complex I 18kDa subunit;complex I-18 kDa;complex I-AQDQ;mitochondrial respiratory chain complex I (18-KD subunit) APPROVED protein-coding ENSG00000164258 7711 04073 252010;256000;602694 REVIEWED 1319736 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009] 11 11 p11.11 47557208 47562690 + 47600562 47606115 + 1580863;1300048;6480464;6484699;6907045;7240710 20876714 10931946;15250827;14729820;12477932;11771736;10967146;9647766;9878551;11112787;16826196;18485875;17209039;19343046;19034380;18977241;17601350;16344560;15489334;9763677;8125298;1602151;12611891;19463981;20935630;20877624;17500595;22939629;19688755;21867691;16196087;17314511;20186120;19738201;21988832;22623428;21139048;21890473;21906983;20301352;20301382;20301403;21145461;19822128 4722 B4DFM8;E9PJE7;E9PKL8;E9PS48;G3V194;O75489 AA477836;ABBA01060699;AC104942;AF067139;AF100743;AF200954;AK223255;AK294167;AK313802;AL135819;AMYH01003544;BC000617;CH471064;DA893277;NG_011946;NM_004551 AAC27451;AAD40386;AAG17541;AAH00617;ABM82860;ABM86047;BAD96975;BAG36538;BAG57489;CAB63881;EAW67895;EAW67896;EAW67897;NP_004542;O75489 Hs.502528 1336012;1779268;2191481;5022200;5022588;5022651 D11S2921;D11S4109;D5S1597E;L18426;MARC_23769-23770:1027452433:1;SHGC-153212 CI-30 CI-30kD;NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial;NADH dehydrogenase-ubiquinone 30 kDa subunit;NADH-ubiquinone oxidoreductase 30 kDa subunit;OTTHUMP00000234349;complex I 30kDa subunit;complex I-30kD APPROVED protein-coding ENSG00000213619 7710 10355 252010;256000;603846 REVIEWED 1346097 NDUFV2P1 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 19 19 19 q13.3-q13.4 50769064 50770035 - 58418769 58419949 - 53727161 53728132 - 7607668 4730 ABBA01068218;AC092070;AMYH01009958;NG_001161;X84682 pseudo 7718 INFERRED 1322348 NDUFS5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010] 1 1 p34.2-p33 39264593 39272874 + 39491967 39500308 + 1298632;1580863;1300048;6480464;6907045 9653160 9878551;10070614;11112787;16826196;17601350;15489334;12477932;11042152;9763677;12611891;15607211;1906457;19064571;19426391;8125298;20877624;21310150;17500595;20972266;21890473;21906983 4725 O43920;Q6IBA0 ABBA01023224;ABBA01023225;ABBA01023226;AF020352;AF047434;AF086268;AI244607;AK312188;AL606465;AMYH01000517;BC001884;BC093057;CH471059;CR456904;NG_028193;NM_001184979;NM_004552 AAB87866;AAC39878;AAH01884;AAH93057;ADZ15664;BAG35121;CAG33185;EAX07286;EAX07287;NP_001171908;NP_004543;O43920 Hs.632385 1736680;1856169 D17S1505E;SHGC-74636 CI-15k;CI15K CI-15 kDa;NADH dehydrogenase [ubiquinone] iron-sulfur protein 5;NADH-ubiquinone oxidoreductase 15 kDa subunit;NADH:ubiquinone oxidoreductase 15 kDa IP subunit;OTTHUMP00000008670;OTTHUMP00000008671;complex I-15 kDa APPROVED protein-coding ENSG00000168653 7712 11961 603847 REVIEWED 2300351 NEAT1 nuclear paraspeckle assembly transcript 1 (non-protein coding) 11 11 11 q13.1 62516613 62520347 + 64949093 64963731 + 65190269 65194003 + 6480464 19716791;19217333;17270048;12565840;11458881;9858482;9253601;20881053;21170033;22960638;21532345;23362321 283131 ABBA01024118;ABBA01024119;ABBA01024120;AF001892;AF001893;AF080092;AF508303;AI590745;AK027191;AMYH01003720;AP000769;AP000944;EF177379;NR_028272;U60873 Hs.523789 1649361;1654069;1847846;1855740;2127851;2140325;2141561;2150138;2155292;2168662;2168664;2171556;2180562;2183640 A006J34;D11S4357;G20879;G33114;G33118;G33120;RH10980;RH17457;RH17854;RH36068;RH68491;SGC30381;SGC33927;WI-12334 LINC00084;NCRNA00084;TncRNA miscrna 30815 612769 VALIDATED 732792 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009] 5 5 5 p15.33 1838161 1852826 + 1854509 1869165 + 1801496 1816165 + 1580863;1300048;2302384;2302364;6480464;6907045;7240710 18559093 9647766;9878551;15372108;19343046;19034380;18977241;17601350;17438127;16341674;15489334;15146197;14702039;12477932;9763677;16169070;12611891;19064571;20877624;22939629;21139048;21900206 4726 D6RBT3;O75380;Q6IBC4 ABBA01034195;ABBA01034196;AC026443;AF044959;AK022503;AMYH01014864;BC038664;BC046155;BE900424;BG706812;BM172493;BM759028;BM764340;CH471102;CN285188;CR456880;NG_013354;NM_004553 AAC27799;AAH38664;AAH46155;ADR82670;BAG51079;CAG33161;EAX08142;EAX08143;NP_004544;O75380 Hs.408257 1740435;2120217 D5S2243E;RH41903 CI-13kA;CI-13kD-A;CI13KDA NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial;NADH-ubiquinone oxidoreductase 13 kDa-A subunit;NADH:ubiquinone oxidoreductase NDUFS6 subunit;OTTHUMP00000115430;OTTHUMP00000220491;complex I 13kDa subunit A;complex I, mitochondrial respiratory chain, 13-kD subunit;nadh dehydrogenase (ubiquinone) fe-s protein 6 APPROVED protein-coding 7713 10356 252010;603848 REVIEWED 1320669 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008] 19 19 p13.3 1334906 1346581 + 1383883 1395588 + 1580863;6480464;6484696;6907045;7240710 20368511 9878551;14749350;8938450;15186778;11112787;18977241;18435906;17604671;17601350;17275378;15317750;15269216;14702039;12477932;11418099;10360771;10330338;8125298;16169070;12611891;20877624;22939629;21963094;21906983;20301352;20301382;20301403 374291 B3KRI2;F5GXJ1;F5H5N1;F5H736;K7ENU3;O75251;Q7LD69 ABBA01002641;AC005329;AF060512;AF115969;AK056061;AK091024;AK091046;AK091623;AK092169;AK127759;AK128713;AK222738;AK289671;AK293917;AMYH01009246;AMYH01009247;BC001715;BC005954;BC111517;BX099945;CH471139;DC340464;NG_008283;NM_024407 AAC27669;AAG43130;AAH01715;AAH05954;AAI11518;AAP97240;ADZ15949;BAC03820;BAC87117;BAC87587;BAD96458;BAF82360;BAG52394;BAH11627;EAW69507;EAW69508;NP_077718;O75251 Hs.211914 CI-20;CI-20KD;FLJ45860;FLJ46880;MGC120002;MY017;PSST NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial;NADH-coenzyme Q reductase;NADH-ubiquinone oxidoreductase 20 kDa subunit;NADH:ubiquinone oxidoreductase PSST subunit;OTTHUMP00000237829;OTTHUMP00000237830;OTTHUMP00000237831;OTTHUMP00000237833;PSST subunit;complex I 20kDa subunit;complex I, mitochondrial respiratory chain, 20-KD subunit;complex I-20kD APPROVED protein-coding 7714 03491 256000;601825 REVIEWED 7204913 NEBL-AS1 NEBL antisense RNA 1 10 p12.31 21462919 21463852 + 18487259 100128511 AB371527;ABBA01034505;AL731547;AMYH01002169;AW204239;BX091902;NG_017092;NR_046283;NR_046284 Hs.635827 miscrna ENSG00000231920 44899 VALIDATED 1319779 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010] 11 11 q13 67554685 67560690 + 67798084 67804114 + 1580863;1300048;6480464;6907045;7240710 9837812;9878551;14749350;15159508;9666055;11112787;12857734;19343046;18977241;17601350;15489334;15250827;14702039;12477932;11955626;9345899;9116042;8125298;12611891;18029348;20379614;20877624;22939629;20186120;18624398;21139048;21906983;20301352;20301382;20301403;22190034 4728 E9PJY7;E9PKH6;E9PML5;E9PN51;E9PPW7;F8W9K7;H0YCB2;H0YDT4;O00217;Q08E91 ABBA01024019;AF038406;AK002110;AK223114;AK302449;AK314546;AMYH01003754;AP002807;BC119753;BC119754;CH471076;DB498707;NG_017040;NM_002496;U65579 AAB51776;AAC34273;AAI19754;AAI19755;BAD96834;BAG37133;BAG63745;EAW74685;EAW74686;EAW74687;EAW74688;NP_002487;O00217 Hs.90443 2143246;2169870;5015861;5015961;5037552;7185938 D10S16;D15S1477;D8S2279;RH69713;STS-R17000 CI-23k;CI23KD;TYKY NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial;NADH-ubiquinone oxidoreductase 23 kDa subunit;OTTHUMP00000235720;OTTHUMP00000235729;complex I 23kDa subunit;complex I-23kD APPROVED protein-coding ENSG00000110717 7715 03683 256000;602141 REVIEWED 734286 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009] 18 18 p11.22 9092725 9124336 + 9102628 9134343 + 1580863;1300048;2302386;6480464;6907045;7240710 9570948 16712791;12754703;9878551;7488192;19343046;19328558;19194776;19165527;19135101;19034380;18977241;18199248;17601350;16784756;16508936;16169070;15489334;15450783;12815743;12477932;12391372;9763677;7607668;2500970;12611891;17786189;19064571;20877624;20971673;20978456;19913121;20628086;21190551;22939629;21548921;19738201;21139048;20551160 4729 E7EPT4;J3KRB4;J3QS34;P19404 ABBA01049947;AF147367;AK291865;AK312129;AMYH01008801;AP005263;AP005899;AW051350;BC001632;BC017487;BC071689;BG742948;CB121843;CH471113;CR456928;D64176;D88548;M22538;NG_013355;NM_021074;X84421 AAA75390;AAH01632;AAH17487;AAH71689;ABM83519;ABM86739;BAA11028;BAA25988;BAF84554;BAG35065;CAG33209;EAX01612;NP_066552;P19404 Hs.464572 1682547;1687576;1762755;2119556;2169789;5123289 RH46470;RH70796;RH71433;RH91274;RH98860;SHGC-146539 CI-24k 24-kda subunit of mitochondrial nadh dehydrogenase;NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial;NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial;NADH-ubiquinone oxidoreductase 24 kDa subunit;NADH-ubiquinone oxidoreductase flavoprotein 2;OTTHUMP00000162347;OTTHUMP00000165822;complex I 24kDa subunit;complex I, mitochondrial respitory chain, 24 kD subunit;nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit APPROVED protein-coding ENSG00000178127 7717 02757 252010;600532 REVIEWED 1322432 NEB nebulin This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009] 2 2 q22 152050099 152299235 - 152341853 152591001 - 1580863;6480464;7240710 21350120;22367672;15967462;7739042;9501083;19232495;18639526;17275809;16917880;15342556;15221447;15048123;14702039;12482578;12477932;12207937;12064939;11994971;11882289;11851340;11425319;11309420;11016930;10051637;9514727;9359044;9284930;8816284;8626778;8580725;3397062;2838409;2037050;1682316;19944167;20498015;12837582;15266303;16902413;20936779;19913121;20628086;22941678;22939629;23455922;23715096;15840729;21724397;20301465;22266860;18067320;22505724 4703 B7Z6B9;F8WCL5;F8WCP0;H0Y3P5;H0Y786;H7BZD5;H7C2B3;H7C2D0;H7C2Z5;J3QK84;P20929;Q05C45;Q14214;Q96MF8 ABBA01004774;ABBA01004775;ABBA01004776;ABBA01004777;ABBA01004778;ABBA01122106;AC009497;AC107052;AC116650;AK056994;AK093855;AK096887;AK096903;AK129532;AK300079;AK300674;AK300722;AK307607;AMYH01011168;AMYH01011169;AMYH01011170;AMYH01011171;AMYH01011172;AMYH01011173;AMYH01011174;AMYH01011175;AMYH01011176;AMYH01011177;AMYH01011178;BC012533;BC022421;BC029384;BC050436;BC056251;BC063136;BC105590;BP232190;BP233123;BX283647;BX648963;CH471058;M19669;NG_009382;NM_001164507;NM_001164508;NM_001271208;NM_004543;U35636;U35637;X58122;X83957 AAA59917;AAB02621;AAB02622;AAH22421;AAH29384;AAH50436;AAH56251;AAH63136;AAI05591;AAY14651;AAY14977;BAB71337;BAG53391;BAH13205;BAH13324;BAH13335;CAA41124;CAA58788;EAX11499;EAX11500;EAX11501;EAX11502;EAX11503;EAX11504;EAX11505;EAX11506;NP_001157979;NP_001157980;NP_001258137;NP_004534;P20929 Hs.588655 1656543;1683914;1705624;1732778;1734730;1734748;1734758;1776526;2108303;2151714;2170371;2180852;5014530;5024561;7184851 D11S1935E;D2S1520E;D2S1538E;D2S1543E;GDB:313839;NEB_8499;RH48670;RH48700;RH67958;RH70613;RH75998;SGC35408;SHGC-31419;SHGC-83315 DKFZp686C1456;FLJ11505;FLJ36536;FLJ39568;FLJ39584;NEB177D;NEM2 OTTHUMP00000204401;nebulin;nemaline myopathy type 2 APPROVED protein-coding ENSG00000183091 7720 01196 161650;256030 REVIEWED 1350455 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] 11 11 q13 67130983 67136582 + 67374323 67380012 + 1580863;6480464;6907045;7240710 10931946;10080174;9892733;9571201;8125298;1478657;8288251;9878551;11112787;19343046;18977241;17601350;16189514;15489334;14702039;12477932;11349233;11337467;11138011;12611891;15342556;17786189;20153825;20877624;20843780;20930427;20186120;22939629;21963094;23266820;21139048;21906983;21145461 4723 B4DE93;E5KNH5;E9PJL9;E9PLC6;E9PMX3;E9PPD6;E9PPE0;E9PPR0;E9PPS5;E9PQP1;G3V0I5;H0YD04;H0YE81;P49821 ABBA01024026;AF053069;AF053070;AF092131;AK055875;AK223061;AK293522;AK300726;AK310537;AK316122;AMYH01003747;AP003385;AU099299;BC007619;BC008146;BC015645;BP254989;CH471076;CR456739;DB532599;FB580533;HQ205266;HQ205267;HQ205268;HQ205269;HQ205270;HQ205271;HQ205272;HQ205273;HQ205274;HQ205275;HQ205276;HQ205277;HQ205278;HQ205279;HQ205280;HQ205281;HQ205282;HQ205283;HQ205284;HQ205285;HQ205286;HQ205287;HQ205288;HQ205289;HQ205290;HQ205291;HQ205292;HQ205293;HQ205294;HQ205295;HQ205296;HQ205297;HQ205298;HQ205299;HQ205300;HQ205301;HQ205302;HQ205303;HQ205304;HQ205305;NG_013353;NM_001166102;NM_007103;S67973;Y17379;Y17383 AAB29698;AAC39722;AAC39750;AAD40373;AAH07619;AAH08146;AAH15645;ABM84162;ABM87565;ADP90734;ADP90735;ADP90736;ADP90737;ADP90738;ADP90739;ADP90740;ADP90741;ADP90742;ADP90743;ADP90744;ADP90745;ADP90746;ADP90747;ADP90748;ADP90749;ADP90750;ADP90751;ADP90752;ADP90753;ADP90754;ADP90755;ADP90756;ADP90757;ADP90758;ADP90759;ADP90760;ADP90761;ADP90762;ADP90763;ADP90764;ADP90765;ADP90766;ADP90767;ADP90768;ADP90769;ADP90770;ADP90771;ADP90772;ADP90773;BAD96781;BAG57004;BAG62399;BAH14493;CAA76757;CAG33020;CAR98247;EAW74652;EAW74653;EAW74654;EAW74655;EAW74656;NP_001159574;NP_009034;P49821 Hs.7744 1774233;1775400;2135126;2154732 A002J17;D11S2245E;RH11768;STS-N93261 CI-51K;CI51KD;FLJ59059;UQOR1 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial;NADH-ubiquinone oxidoreductase 51 kDa subunit;OTTHUMP00000232178;OTTHUMP00000232181;OTTHUMP00000232183;OTTHUMP00000232187;complex I 51 kda subunit;complex I 51kDa subunit;complex I, mitochondrial respiratory chain;mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1;mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit APPROVED protein-coding ENSG00000167792 7716 01191 161015;252010 REVIEWED 1343620 NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 29462954 29479344 + 43186447 43202842 + 44313378 44329773 + 1580863;6480464;6484113;6907045 9878551;19343046;18977241;17601350;16849371;15489334;14702039;12600270;12477932;10950923;10830953;10508479;9344673;8889548;8443212;16169070;12611891;18029348;19064571;20877624;22939629;21890473 4731 P56181 AB038163;ABBA01004524;ABBA01004525;AK056041;AK289586;AK308228;AMYH01012271;AMYH01012272;AP001629;AY173949;BC021217;BC033766;BC054016;BF311986;BI829092;BU629860;CF123536;CH471079;CR542174;CR542190;NM_001001503;NM_021075;X99726;X99727;X99728 AAH21217;AAH33766;AAH54016;AAO49719;ABM83644;ABM86893;BAB13732;BAB71080;BAF82275;CAB56704;CAG46971;CAG46987;EAX09523;EAX09524;EAX09525;EAX09526;NP_001001503;NP_066553;P56181 Hs.473937 1650327;1693578;2145790;2170961;2170963 A005Z22;D21S1869;G20624;SHGC-58484;SHGC-87668 CI-10k;CI-9KD NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial;NADH-ubiquinone oxidoreductase 9 kD subunit;NADH-ubiquinone oxidoreductase 9 kDa subunit;NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD;OTTHUMP00000109386;OTTHUMP00000109387;complex I 10kDa subunit;complex I, mitochondrial respiratory chain, 10-kD subunit;complex I-9kD;mitochondrial NADH oxidoreductase-like protein;renal carcinoma antigen NY-REN-4 APPROVED protein-coding ENSG00000160194 7719 03716 602184 REVIEWED 6770091 NECAP1P1 NECAP endocytosis associated 1 pseudogene 1 7 p14.1 37624717 37625937 - 442668 AACC02000036;ABBA01056917;AC009530;AMYH01017188;CH236951;NG_009426 pseudo 43912 INFERRED 1318016 NEBL nebulette This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 10 10 p12 21110093 21503122 - 21068902 21463116 - 1581084;6480464 11140941 15004028;9733644;18823973;17987659;15489334;15164054;14702039;12504851;12477932;11822876;11309420;10470015;8889548;8581976;19913121;20628086;12883659;16385451;17177073;17213182;18419822;18677772;20951326;16964398;23340173;23535730 10529 B4DH47;O76041;Q59FZ8;Q5JUU7;Q5JUU8 AB209311;ABBA01034505;ABBA01034506;AJ580772;AK096540;AK294926;AK295186;AK316521;AL157398;AL158160;AL359175;AL731547;AMYH01002167;AMYH01002168;AMYH01002169;BC110452;BC110453;BC126132;BC126134;BC144201;BI522541;BM973051;CH471072;CR744526;DT220372;EF445000;NG_017092;NM_001173484;NM_006393;NM_213569;Y16241;Y17673 AAI10453;AAI10454;AAI26133;AAI26135;ACA06021;ACA06022;ACA06023;ACA06024;ACA06025;ACA06026;BAC04812;BAD92548;BAG58008;BAG58190;BAH14892;CAA76130;CAA76810;CAE45323;EAW86175;NP_001166955;NP_006384;NP_998734;O76041 Hs.5025 1662797;1664081;1706248;1711962;1718279;1751525;1780182;2108835;2111418;2126066;2136578;2142932;2155351;2172195;2172197;2191113;5113034 A006A32;D10S1345E;D10S1638;D10S2191;G20655;MARC_14799-14800:1012844373:1;NEBL_9132;RH118424;RH122911;RH47055;RH66460;SHGC-105300;SHGC-154553;SHGC-34123;SHGC-80667;WI-13343;WI-13668 FLJ53769;LASP2;LNEBL;MGC119746;MGC119747;bA56H7.1 LIM-nebulette;OTTHUMP00000019268;OTTHUMP00000019269;actin-binding Z-disk protein;nebulette APPROVED protein-coding ENSG00000078114 16932 10403 605491 REVIEWED 1343378 NEDD10 neural precursor cell expressed, developmentally down-regulated 10 4740 7724 1342968 NECAB1 N-terminal EF-hand calcium binding protein 1 8 8 8 q21.3 87998620 88166361 + 91872954 92040806 + 91803921 91971630 + 6480464 17364817;15489334;14702039;12477932;12044471;21832049;18029348 64168 Q8N987 ABBA01037411;ABBA01037412;AC093329;AC103770;AF193756;AF414126;AK095533;AK098356;AMYH01018873;AY224210;BC016340;BC068448;CH471060;DB481874;NM_022351 AAG28412;AAH16340;AAH68448;AAO34126;AAP33146;BAC04568;EAW91669;EAW91670;NP_071746;Q8N987 Hs.719466 1659829;1683980;1688584;1697476;1726435;1771718;1786826;2114773 AFMA041XG5;G32122;G62597;RH102239;RH91928;RH93833;SHGC-172443;SHGC-30798 EFCBP1;STIP-1 EF-hand calcium binding protein 1;EF-hand calcium-binding protein 1;N-terminal EF-hand calcium-binding protein 1;OTTHUMP00000225554;neuronal calcium binding protein;neuronal calcium-binding protein 1;synaptotagmin interacting protein 1 protein-coding ENSG00000123119 20983 16851 VALIDATED 1345623 NECAB2 N-terminal EF-hand calcium binding protein 2 16 16 16 q23.3 68304639 68338784 + 82559738 82593880 + 84002237 84036379 + 1580863;6480464 18519826;16713569;16189514;15489334;14702039;12477932;12044471;11641222;9110174;8619474;17689978;19694902;20379614;15604093 54550 H3BPH6;H3BQC7;H3BTW2;Q7Z6G3 ABBA01016922;ABBA01016923;ABBA01016924;ABBA01016925;ABBA01016926;AC040169;AF070637;AF193758;AK127376;AMYH01007867;AY299331;BC016979;BC131615;CH471114;NM_019065 AAC25392;AAG28414;AAI31616;AAP57260;BAC86948;EAW95508;EAW95509;EAW95510;NP_061938;Q7Z6G3 Hs.140950 1662704;1726823;5112001 G44311;G62802;L29692 EFCBP2 EF hand calcium binding protein 2;EF-hand calcium binding protein 2;EF-hand calcium-binding protein 2;N-terminal EF-hand calcium-binding protein 2;OTTHUMP00000174988;neuronal calcium binding 2;neuronal calcium-binding protein 2;stip-2;synaptotagmin-interacting protein 2 protein-coding ENSG00000103154 23746 13263 PROVISIONAL 1350647 NEDD7 neural precursor cell expressed, developmentally down-regulated 7 4737 7731 1320847 NECAB3 N-terminal EF-hand calcium binding protein 3 The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.22 28997925 29015296 - 31708554 31725925 - 32244893 32262264 - 1580863;6480464 10833507;12780348;19035353;15489334;14702039;14697346;12477932;12044471;11780052;10715114;9776767;20237496;20098747;21048031;21832049;21906983;22623531 63941 Q9H8G8 AB039947;ABBA01019224;AF193759;AF409141;AK023706;AK124388;AK291895;AK309285;AL121906;AL519842;AMYH01011855;BC023270;BC047673;BQ212085;BQ431858;CD580591;CH471077;NM_031231;NM_031232 AAG28415;AAH47673;AAL01118;BAB14649;BAB16413;BAF84584;EAW76301;EAW76302;EAW76303;EAW76304;EAW76305;EAW76306;EAW76307;EAW76308;NP_112508;NP_112509;Q96P71 Hs.516986 1778989;1794672;2144857;2160839;2166965 A006D04;AF021113;PMC344741P1;RH12699;RH78379 APBA2BP;EFCBP3;NIP1;STIP3;SYTIP2;XB51;dJ63M2.4;dJ63M2.5 EF-hand calcium binding protein 3;N-terminal EF-hand calcium-binding protein 3;Nek2-interacting protein 1;OTTHUMP00000030659;OTTHUMP00000030660;OTTHUMP00000035342;X11L-binding protein 51;amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein;amyloid beta A4 protein-binding family A member 2-binding protein;neuronal calcium-binding protein 3;neuronal calcium-binding protein NECAB3;synaptotagmin interacting protein 2;synaptotagmin interacting protein STIP3 APPROVED protein-coding ENSG00000125967 15851 07168 612478 REVIEWED 5013872 NEDD8-MDP1 NEDD8-MDP1 readthrough This locus represents naturally occurring read-through transcription between the neighboring NEDD8 (neural precursor cell expressed, developmentally down-regulated 8) and MDP1 (magnesium-dependent phosphatase 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010] 14 q 24683143 24701576 - 20967262 100528064 E9PL57;E9PS38 ABBA01061337;ABBA01061338;ABBA01061339;AL096870;AMYH01005610;AMYH01005611;DN993851;NM_001199823 NP_001186752 Hs.220963 1646846 WI-15002 NEDD8-MDP1 protein;NEDD8-MDP1 read-through transcript;OTTHUMP00000235205 APPROVED protein-coding ENSG00000255526 39551 VALIDATED 1603669 NECAP1 NECAP endocytosis associated 1 12 12 12 p13.31 9811877 9827432 + 7989001 8141634 + 8234807 8250373 + 6480464 16344560;15494011;15489334;14702039;14555962;12477932;14665628;20237496;21832049;21139048;14973137;19380743 25977 A8K3C2;F5GYH1;F5H2U7;Q8NC96 ABBA01012236;AC006511;AI688397;AK074858;AK074880;AK074923;AK075013;AK094805;AK290537;AK303675;AK314424;AL050272;AMYH01004224;BC002888;BC067367;BC084551;BC110876;CH471116;CQ782887;CQ784000;DA496321;NM_015509;NR_024260 AAH02888;AAH67367;AAH84551;AAI10877;BAC11250;BAC11264;BAC11296;BAC11352;BAF83226;BAG64672;CAB43373;CAF86114;CAF86963;EAW88636;EAW88637;EAW88638;EAW88639;NP_056324;Q8NC96 Hs.555927 1700404;1848598;1848600 A006J36;G20881;RH103823 DKFZP566B183;MGC131900 NECAP endocytosis-associated protein 1;NECAP-1;OTTHUMP00000239043;adaptin ear-binding coat-associated protein 1;adaptin-ear-binding coat-associated protein 1 protein-coding ENSG00000089818 24539 14819 611623 VALIDATED 736612 NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 15 15 q 53906412 54073127 - 56119120 56285835 - 1580863;2302550;6480464;6484113;6907045;7242174 17726579;19125695 19345329;17996703;18544533;11342538;12907594;9990509;8649367;10642508;15126635;17218261;17218260;14973438;17116753;9405440;19366705;19054764;19024597;18804462;18772139;18723765;18703514;18353951;18307411;18305167;18287095;18174164;17719543;17544362;16885233;16867982;16572171;15703212;15548568;15252135;15217910;15060076;14645220;14581525;12907674;12796489;12697834;12610113;12477932;12230472;12218189;12050153;11991975;11919637;11748237;11717310;11696533;11598133;11359767;11112487;11087860;11087859;11042109;10871286;10446181;10212229;10037602;9593687;9525617;9351815;9305852;9182527;9073511;7788527;15013426;18498246;18498243;18577513;18632619;19158374;12729930;12167593;11244092;15678106;11046148;15496141;20819705;20855896;16169070;19252184;19602703;19670909;19812267;19835589;19864419;19953087;20062064;20078934;20086093;20172859;20332230;20519395;20559325;20562859;20530479;20711176;16055720;16701206;20889565;23166351;23195959;23236378;23253940;23287719;19907029;20051513;21338354;19706893;20159449;20676133;22939629;17013377;20737472;21308777;21332718;21478478;21765395;21813641;21852580;16138902;17538020;22361880;21890473;21906983;22385262;19165858;19193720;19240029;19343052;19617352;19835873;20164219;20237237;20522958;20675381;21148011;21191027;21399620;21463633;21936852;21953697;21987572;22024150;15677482;22096579;11323714;16118794;17289006;19615332;20730100;21685363;22751010;22768111;22773947;22467858;21986318;11502596;20843805;22350919;22875931;15001356;19020832;19143627;20697350;21666754;22004035;22761998;22762019;15231748;21572392;22974840;23000965;23471985;23549616;23602387;23603909 4734 D6RF89;H0Y8H4;H0Y8X6;H0Y9L1;H0YA37 ABBA01039013;ABBA01039014;ABBA01039015;AC009997;AC039057;AK304394;AK307541;AL832063;AL832359;AL833293;AL833300;AMYH01006673;AMYH01006674;AY550969;BC035707;BC047035;BC136605;BC144284;BC144285;BC152452;BC152562;CH471082;D42055;NM_006154;NM_198400 AAI36606;AAI44285;AAI44286;AAI52453;AAI52563;AAT52215;ACE87832;ACT64356;BAA07655;BAG65229;EAW77495;EAW77496;EAW77497;NP_006145;NP_940682;P46934 Hs.1565 1655913;1662333;1663403;1768519;2121301;2173968;2191305;2218790 D15S1324;MARC_17217-17218:1023895765:1;NEDD4_4021;RH25321;RH44970;SHGC-31455;STS-D42055;WI-22810 KIAA0093;MGC176705;NEDD4-1;RPF1 E3 ubiquitin-protein ligase NEDD4;NEDD-4;OTTHUMP00000162878;OTTHUMP00000217840;OTTHUMP00000217841;OTTHUMP00000217842;OTTHUMP00000217844;cell proliferation-inducing gene 53 protein;neural precursor cell expressed developmentally down-regulated protein 4;neural precursor cell expressed, developmentally down-regulated gene 4a;receptor-potentiating factor 1 APPROVED protein-coding ENSG00000069869 7727 03786 602278 VALIDATED 1343217 NEFHP1 neurofilament, heavy polypeptide pseudogene 1 1 1 1 p13.1 115511118 115513743 - 117084126 117086754 - 117282606 117285231 - 339396 ABBA01068494;AL135798;AMYH01000972;NG_022735 NEFHL APPROVED pseudo 7738 INFERRED 1317123 NEDD1 neural precursor cell expressed, developmentally down-regulated 1 12 12 q23.1 95825375 95870172 + 97301001 97347469 + 6480464 19243593;19029337;16461362;16378099;16344560;16051665;15489334;14702039;12477932;7814034;11076968;11956313;12221128;12852856;16462731;19509060;19710015;7790358;8838651;20224777;23273898;22818914;20360068;19369198;21139048;21906983;22318606;22747683;21988832;22595525;22895009;23106787 121441 A8K1Z3;G3V2M9;G3V2S2;G3V2V3;G3V3F1;G3V4I9;G3V4L2;Q8NHV4 AA236927;ABBA01053308;AC007564;AC013417;AK093221;AK290058;AK303656;AK315821;AL832466;AL832468;AMYH01004684;BC020799;BC026168;BC027605;CH471054;DB074571;NM_001135175;NM_001135176;NM_001135177;NM_152905 AAH20799;AAH27605;ABM82532;ABM85725;BAC04099;BAF82747;BAF98712;BAG64657;EAW97577;EAW97578;EAW97579;EAW97580;NP_001128647;NP_001128648;NP_001128649;NP_690869;Q8NHV4 Hs.270084 1686774;1794088;2108305;5106481 NEDD1_8133;PMC310794P11;RH79078;RH93549 FLJ35902;GCP-WD;TUBGCP7 NEDD-1;OTTHUMP00000244125;OTTHUMP00000244126;OTTHUMP00000244131;OTTHUMP00000244133;OTTHUMP00000244134;neural precursor cell expressed developmentally down-regulated protein 1;protein NEDD1 protein-coding ENSG00000139350 7723 02655 600372 VALIDATED 1345146 NEFLL1 neurofilament, light polypeptide-like 1 3145240 4748 7740 1348787 NEFLL2 neurofilament, light polypeptide-like 2 4749 7741 2794507 NEFLP1 neurofilament, light polypeptide pseudogene 1 Y Y Y q11.2 8079457 8079888 - 21792524 21793155 - 23383237 23383668 - 12815422;9847074 359795 ABBA01057524;AC009239;NG_002813 2188751;2188767 G66583;G66591 pseudo 37662 INFERRED 1603996 NECAP2 NECAP endocytosis associated 2 This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 1 1 1 p36.13 15247104 15266526 + 16639820 16659160 + 16767167 16786585 + 6480464 11256614;16710414;16381901;16341674;16189514;15489336;15489334;14702039;14555962;12477932;11214971;11076863;8889548;8125298;14665628;21832049;22939629;21139048;19380743 55707 D6RAN6;D6RB24;F6SKB8;H0Y970;Q9NVZ3 ABBA01004668;AK001282;AK021938;AK023545;AK024468;AK223344;AK300764;AK302227;AL137802;AL669962;AMYH01000281;BC017014;BC018914;BM751287;BQ005870;BU676615;CH471167;NM_001145277;NM_001145278;NM_018090 AAH17014;AAH18914;BAA91598;BAB14605;BAB15758;BAD97064;BAG62429;BAG63581;CAL38220;EAW51780;EAW51781;EAW51782;EAW51783;EAW51784;NP_001138749;NP_001138750;NP_060560;Q9NVZ3 Hs.437385 1699888;1733048;1797110;2149557;5037552 D1S1399;D8S2279;FLJ10420;RH103552;SHGC-74267 FLJ10420 NECAP endocytosis-associated protein 2;NECAP-2;OTTHUMP00000002441;OTTHUMP00000221692;OTTHUMP00000221693;OTTHUMP00000221695;OTTHUMP00000221697;OTTHUMP00000221698;adaptin ear-binding coat-associated protein 2;adaptin-ear-binding coat-associated protein 2 APPROVED protein-coding ENSG00000157191 25528 07674 611624 REVIEWED 7206873 NEFMP1 neurofilament, medium polypeptide pseudogene 1 10 56358706 56360440 + 100420737 ABBA01019402;ABBA01019403;AL391356;AMYH01002756;NG_025505 pseudo 45030 INFERRED 1348692 NEGR1 neuronal growth regulator 1 1 1 p31.1 71641213 72520865 - 71868625 72748277 - 737633;1299429;1580863;6480464 12477932;10075727 19164386;19079261;19079260;18204098;17903294;16710414;16602701;14702039;12975309;19692490;19746409;19812171;19851340;19910938;20215397;20379614;20386550;20520848;19913121;20571754;20628086;20816195;20712903;20724581;20725061;20816152;20935630;17500595;21624008;22179955;22360420;21427694;22589738;21750520;21982860;23229156;22443470 257194 B4DI94;Q7Z3B1;Q8N440 ABBA01074458;ABBA01074459;ABBA01074460;ABBA01074461;ABBA01074462;ABBA01074463;ABBA01074464;ABBA01074465;ABBA01074466;ABBA01074467;ABBA01074468;ABBA01074469;ABBA01074470;ABBA01074471;AK092307;AK295481;AL354949;AL355590;AL356600;AL359821;AL365362;AL391239;AL513349;AL627317;AL645724;AL645767;AMYH01000701;AMYH01000702;AMYH01000703;AMYH01000704;AMYH01000705;AMYH01000706;AMYH01000707;AMYH01000708;AMYH01000709;BC036771;BX538014;BX648027;CH471059;CR749215;NM_173808 AAH36771;BAC03858;BAG58406;CAD97961;CAH18072;EAX06428;EAX06429;EAX06430;NP_776169;Q7Z3B1 Hs.146542 1341927;1650241;1664120;1681066;1683631;1684282;1692422;1692646;1692956;1693032;1693140;1703440;1705240;1710892;1715715;1717691;1718873;1719781;1723187;1724011;1724057;1724437;1750885;1762553;1769677;1781400;1852107;2109457;2116826;2125812;2135264;2148188;2151681;2160191;2171215;2175673;5127977 174;AFMb280xc1;AL009401;AL010101;AL010102;AL033860;AL033950;AL034194;AL034242;AL034296;D1S224;D1S2490;G29197;KIF2C_9208;RH118419;RH118958;RH119040;RH119304;RH122276;RH122381;RH123142;RH123582;RH67891;RH79991;RH80738;SHGC-104652;SHGC-106944;SHGC-146367;SHGC-152670;SHGC-75028;SHGC-78108;SHGC-82525;SHGC-829;SHGC-84225;WI-11980;WI-18412;WI-4469 DMML2433;IGLON4;KILON;MGC46680;Ntra IgLON family member 4;OTTHUMP00000011267;OTTHUMP00000011268;a kindred of IgLON;neuronal growth regulator 1;neurotractin protein-coding ENSG00000172260 17302 14820 613173 VALIDATED 6481262 NEGR1-AS1 NEGR1 antisense RNA 1 100874050 AL627317 APPROVED miscrna 43593 1344203 NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 18 18 q21 53862778 54216369 + 55711610 56068772 + 6480464;6893327;6484113;6907045 22417925 21088674;17502380;17487281;17331106;17081983;16788695;16716084;16701206;16344560;16103266;15814530;15677482;15576372;15496141;15489334;15489223;15342556;15328345;15252135;15231748;15217910;15140763;15044175;15040001;14702039;14615060;14556380;12911626;12876068;12729930;12522688;12477932;12139396;12050153;11840194;11748237;11742982;11696533;11562473;11046148;10594025;9455477;9110174;8619474;8576257;19153599;16169070;9649342;15778465;11244092;18577513;19635985;19615332;19364400;19144635;18591455;18498246;18322022;18321969;18321968;18293164;18268134;17652939;17544362;11502596;11802777;16006511;16844684;18701608;22879586;9153201;20090362;21052022;20675381;20936779;20466724;20504882;15548568;19381069;19615732;19617352;19664597;19690890;19706893;19917253;19953087;20003179;20051513;20064473;20379614;19557014;19602703;21057195;21463633;21154329;22385262;21039987;22957059;21478478;21176637;22904170;20338996;21852580;19343052;20542005;21900244;21903422;21987572;22213801;21139048;21890473;21906983;22217575;22361880;22001757;16416336;17289006;18981174;19322201;19380724;20525693;20730100;22505712;22558212;22754043;22773947;23644597;16964398;21572392;21909941;21963094;21988832;22952603;23000965;23236378;23396981;23444366;23529131;23589291;22496338;17429078;19143627;20862313;21159863;21762798;22190034;22921829;9575161 23327 B7Z2P9;B7Z6K0;F5H602;K7EKL1;K7EN41;K7EN51;K7ENS6;K7EQC5;K7ERN1;Q9BW58 AB007899;AB071179;ABBA01056142;ABBA01056143;ABBA01056144;ABBA01056145;ABBA01056146;AC015988;AC090236;AC107896;AF070601;AF210730;AF385931;AK091189;AK130420;AK294963;AK300444;AL137469;AMYH01009025;AMYH01009026;AY112983;AY112984;AY112985;AY243313;AY243314;AY243315;AY243316;AY243317;AY243318;AY243319;AY243321;AY243322;AY256662;AY312514;AY751751;BC000621;BC019345;BC032597;BP260852;BQ215431;CH471096;DA248109;DA759940;DA819220;DB317092;DB473368;DC363885;DC381911;DQ181796;FB659840;NG_029954;NM_001144964;NM_001144965;NM_001144966;NM_001144967;NM_001144968;NM_001144969;NM_001144970;NM_001144971;NM_001243960;NM_015277 AAG43524;AAH00621;AAH19345;AAH32597;AAM46208;AAM76728;AAM76729;AAM76730;AAP75706;AAP97872;AAP97873;AAU95503;ABA10330;ABM81839;ABM84276;BAA23711;BAB69424;BAH11935;BAH13286;CAB70754;CAS01775;EAW63064;EAW63065;EAW63066;EAW63067;EAW63068;EAW63069;EAW63070;EAW63071;EAW63072;EAW63073;EAW63074;EAW63075;NP_001138436;NP_001138437;NP_001138438;NP_001138439;NP_001138440;NP_001138441;NP_001138442;NP_001138443;NP_001230889;NP_056092;Q96PU5 Hs.185677 1342045;1655340;1656998;1673589;1680561;1690414;1714143;1724055;1731369;1740779;1751845;1768850;1780190;1783656;1783766;1850169;1850284;1857827;2118570;2136159;2143151;2144156;2153415;2164337;2179135;2181910;2182466;2183467;2183469;2217664;5024756;5111847;7184802 A004M46;A005M03;A008X40;D17S1835;D18S1026;D18S1055;D18S1348;D18S21;D18S825;D18S887;G20322;G42355;NEDD4L_3797;RH119039;RH119679;RH15883;RH15898;RH16409;RH48825;RH68056;RH68474;RH80030;RH92534;SGC33936;SHGC-105843;SHGC-132384;SHGC-154558;SHGC-24432;SHGC-82284;STS-AA019094;STS-H54325;WI-12140 FLJ33870;KIAA0439;NEDD4-2;NEDD4.2;RSP5;hNedd4-2 E3 ubiquitin-protein ligase NEDD4-like;NEDD4.2;neural precursor cell expressed, developmentally down-regulated gene 4-like;ubiquitin-protein ligase NEDD4-like;ubiquitin-protein ligase Rsp5 APPROVED protein-coding ENSG00000049759 7728 05903 606384 REVIEWED 1314803 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 6 6 p25-p24 11291519 11340887 - 11183531 11382581 - 6480464 21317929;11827972;9584194;8668148;19275884;19103205;18585997;18579580;18465784;18063669;17908996;17703068;17604723;16394104;16352661;16344560;16344118;16184168;15592516;15489334;15376324;15231748;15144564;15144186;15051726;12847683;12522270;12517963;12477932;12189134;11782456;11438665;11118211;11054566;10866674;10808124;10692442;10508479;10502414;10490968;10455189;9820532;9748319;9498705;9497377;9405482;9366405;9360983;9020138;8879209;9162067;19417561;19539609;19648964;20379614;20413850;20430066;20428794;21059344;20498643;20534741;22963925;21765937;21832049;22061964;18624398;21139048;21906983;22174851;21399483;15342556;20068165;21145356;21829474;22328516;22869051;23037767;22732573;9295052;22447485;23247867;22810897;23074285 4739 D6RBQ2;D6RDV1;D6REP7;D6RGD7;Q14511 AA814628;ABBA01022100;ABBA01022101;AJ420493;AK292682;AL022098;AL136139;AL139807;AL512382;AMYH01016083;AMYH01016084;AW963532;BC020686;BC040207;BC050740;BP262776;BX648041;CH471087;DA660812;DA676780;DA778416;L43821;NM_001142393;NM_001271033;NM_006403;NM_182966;NR_073131;U64317 AAA98770;AAB53696;AAH20686;AAH40207;ABM82651;ABM85828;ACE87009;ACE87697;BAF85371;EAW55299;EAW55300;EAW55301;EAW55302;EAW55303;NP_001135865;NP_001257962;NP_006394;NP_892011;Q14511 Hs.37982 1664134;1666830;1680613;1696696;1700828;1722327;1727057;1853137;1853545;1855495;2116280;2116876;2146932;2148052;2158779;2160928;2160930;2171701;2173731;2177613;2180273;2187325;2187434;5123863;7186686 043XF2;A002S01;AL020974;D6S1194E;D6S1863;D6S1979;D6S2064;D6S2068;G30970;G60230;G62928;RH104039;RH15834;RH16235;RH46700;RH46787;RH67987;RH69676;RH98262;SGC34351;SHGC-33201;SHGC-34846;SHGC-83040;WI-13606 CAS-L;CAS2;CASL;CASS2;HEF1;dJ49G10.2;dJ761I2.1 CRK-associated substrate-related protein;Cas scaffolding protein family member 2;Crk-associated substrate related;Crk-associated substrate related protein Cas-L;Enhancer of filamentation 1 p55;NEDD-9;OTTHUMP00000016030;OTTHUMP00000016031;OTTHUMP00000016032;OTTHUMP00000221385;cas-like docking;dJ49G10.2 (Enhancer of Filamentation 1 (HEF1));dJ761I2.1 (enhancer of filamentation (HEF1));enhancer of filamentation 1;neural precursor cell expressed developmentally down-regulated protein 9;p105;p130Cas-related protein;renal carcinoma antigen NY-REN-12 APPROVED protein-coding ENSG00000111859 7733 11888 602265 REVIEWED 736723 NEFH neurofilament, heavy polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008] 22 22 q12.2 28206219 28217279 + 29876181 29887279 + 1302518;1300048;1302574;1580863;6480464;6907045;7240710 9931323;9763431 12477932;12130654;11238716;10048485;9875737;9388258;8889548;8621664;8379998;8224877;8102569;7849698;2557834;1688443;14662745;3138108;19104679;19054571;18635547;17626162;17290105;16084104;15489334;14722583;12963086;12674703;18319731;19678766;9592082;20213320;20624930;20140245;21349546;23134506;21858182;21987572;21792676;20301623;21976236;22810585;23117489;23455922;23632043 4744 P12036 AA908662;AB020652;ABBA01055265;AC000035;AF203032;AK302660;AMYH01012695;BC008648;BC073969;BE223015;BE782873;BG470629;BM686053;CH471095;NG_008404;NM_021076;S66488;X15306;X15307;X15308;X15309 AAB28609;AAF13722;AAH08648;AAH73969;BAA74868;BAG63896;CAA33366;EAW59804;EAW59805;EAW59806;NP_066554;P12036 Hs.198760 2129750 WI-1055 NFH 200 kDa neurofilament protein;NF-H;OTTHUMP00000199266;neurofilament heavy polypeptide;neurofilament triplet H protein;neurofilament, heavy polypeptide 200kDa APPROVED protein-coding ENSG00000100285 7737 01204 105400;162230 REVIEWED 735476 NEFM neurofilament, medium polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 8 8 p21 24827179 24832511 + 24771274 24776606 + 1300048;1302566;1580863;6480464;6907045 14662746 3608989;14662745;19034380;16734940;16084104;16006557;15822905;15342556;15290901;14583397;12963086;12477932;12133495;11563628;10762698;8702840;8620924;8344946;7829101;7790359;2557834;2450354;1537832;1348579;20471030;20213320;20562859;20624930;15032605;20201926;20381070;22318606;22586326;17043677;21139048;21219885;21890473;18029348;21816823;21956116 4741 E7EMV2;E7ESP9;P07197;Q9UK51 ABBA01005553;AF106564;AF181990;AK294681;AK296226;AMYH01018580;BC002421;BC071752;BC096757;BI496345;BP247321;BP311096;CH471080;DC318935;DC332005;DC352660;EF560736;EF560737;NG_008388;NM_001105541;NM_005382;Y00067 AAF00492;AAH96757;ABQ59046;ABQ59047;ACT64376;ACT64377;BAG57843;BAG58949;CAA68276;EAW63602;NP_001099011;NP_005373;P07197 Hs.458657;Hs.730072 1791784;1796398;2150238;2191195 D8S1927;MARC_16085-16086:1013616869:1;NEF3_219;PMC125376P1 NEF3;NF-M;NFM 160 kDa neurofilament protein;OTTHUMP00000162831;OTTHUMP00000224887;OTTHUMP00000225067;neurofilament 3;neurofilament 3, medium;neurofilament medium polypeptide;neurofilament triplet M protein;neurofilament, medium polypeptide 150kDa;neurofilament-3 (150 kD medium) APPROVED protein-coding ENSG00000104722 7734 01205 162250 REVIEWED 5683644 NEGR1-IT1 NEGR1 intronic transcript 1 (non-protein coding) 1 p31.1 72259915 72302695 - 12477932;18204098 100852409 ABBA01074464;AL356600;AL359821;AMYH01000703;BC042082;NR_046218 Hs.681780 miscrna 41432 VALIDATED 735521 NEDD8 neural precursor cell expressed, developmentally down-regulated 8 14 14 q12 23755897 23771416 - 24686057 24701576 - 1549457;1580863;6480464;6484113 15180522 21193393;12730221;15567417;17353931;9694792;10500095;9353319;19245792;18851830;18826954;18805092;18723677;18652489;18323857;18274552;18264111;18096514;17935801;17660949;17132228;17119158;17098746;16979187;16861300;16735510;16620772;16503656;15694336;15489334;15242646;14702039;14690597;14676825;12816948;12759363;12740388;12646924;12554766;12504025;12477932;12215427;11953428;11675391;11585840;11259415;11181995;10828074;10772955;10713156;10597293;10587588;10318914;10217437;10207026;9857030;9790970;8889548;8395831;1378265;18173839;18627766;14757770;12481031;16169070;22466964;11027288;16877356;17206147;17332328;17438373;17543862;17609381;18247557;20029837;21145461;22474075;22573887;16998474;20850415;16177058;16964240;17192413;17369817;17546054;19281774;19615732;19713960;19784069;22584050;20688984;20603103;21316600;22863883;23246961;23118980;23175788;23267066;21169563;21474709;21399617;22388932;22939629;16196087;20847044;15060148;20101219;20554519;20596523;21887275;22502714;22612509;22691497;17440617;22537386;17318178;21119685;21139048;21693764;21890473;21906983;21963094;21987572;22095636;23000965;23201271;23290524;23401859;22004789;16111684;19471022;21252943;22069333;11024059;12565873;15107402;15775960;17220875;19328766;21822215;22081073;22271254;22370482;22836579;10585493;17549501;22405651;23105008;23300442;23209320;14564014;14673145;16980297;18789977;19295130;20190741;22190034;22268729;22505724;22959436;23001041;21765416;23394999;23539442;23554956;22767593 4738 F8VSA6;Q15843 ABBA01061337;ABBA01061338;ABBA01061339;AK125214;AL096870;AMYH01005610;AMYH01005611;BC038290;BC064899;BC104200;BC104201;BC104664;BE548741;CF130271;CH471078;CR407662;D23662;NM_006156 AAI04201;AAI04202;AAI04665;BAA04889;CAG28590;NP_006147;Q15843 Hs.531064 1644037;1652813;1721141;1771358;2107431;2141478;2191595;5015404;5015879;5015881;5016781;5020946;5020948;5024413;5037552;5109281 A006T15;D14S853;D1S1425;D8S2279;G35510;G35786;G59405;GDB:314949;GDB:335751;L17705;L17877;L17971;MARC_26779-26780:1034181609:3;NEDD8_7836;SHGC-67307;WI-15929 FLJ43224;MGC104393;MGC125896;MGC125897;Nedd-8 OTTHUMP00000164709;OTTHUMP00000235207;OTTHUMP00000241221;neddylin;neural precursor cell expressed developmentally down-regulated protein 8;neural precursor cell expressed, developmentally down-regulated gene 8;ubiquitin-like protein Nedd8 protein-coding ENSG00000129559 7732 04412 603171 VALIDATED 1344238 NEFL neurofilament, light polypeptide Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] 8 8 p21 24864385 24870043 - 24808468 24814131 - 1358514;1580863;2299007;2299053;2298999;6480464;6907045;7240710 14733962;16182933;17683840;8814452 14662745;22246235;12432080;12226091;15857389;17052987;19123978;19110265;19034380;18758688;18023247;17923616;17903209;17620486;17475803;17290105;16930284;16678934;16452125;16344560;16084104;15686490;15654615;15489334;15241803;15122254;15111691;12911634;12837694;12730211;12566280;12481988;12477932;12477167;12231460;12133495;11220745;10841809;9763415;9388258;8863508;8621664;8530496;8344946;8180132;8125298;6135695;3121319;3036423;3034332;2516804;1902666;1497855;9425014;15383276;22319610;20213320;19488899;10373510;12403814;12815021;14622581;15324660;16169070;19158810;19286384;19678766;19950375;20039262;20086018;20201926;20381070;8615909;8665664;9481670;20301366;3145240;22680408;23106098;21197541;21983493;20301384;20301462;21139048;21890473;22586326;17683050;21044950;21860087;22288874;21039366;22302611;22797925 4747 P07196;Q8TCR7 ABBA01005555;AC107373;AK057731;AK075003;AK127430;AK225975;AK299095;AK314591;AL713644;AMYH01018580;AY082067;AY156690;BC037803;BC039237;BC066952;BQ720008;CH471080;DA195749;DA222123;NG_008492;NM_006158;S70309;X05608 AAD14057;AAH39237;AAH66952;AAL92540;AAN74826;ABM83572;ABM86810;BAG52047;BAG54502;BAG61155;CAA29097;CAD28456;EAW63598;EAW63599;EAW63600;EAW63601;NP_006149;P07196 Hs.521461 1665595;1729063;1741575;1768554;2115509;2115571;2115966;2151465;2191237;5492068 GDB:181541;MARC_16719-16720:1018026557:1;Nefl;Nfl;RH120868;RH71170;SHGC-6135;STS-R51365;WI-13419;WI-16152 CMT1F;CMT2E;FLJ53642;NF-L;NF68;NFL 68 kDa neurofilament protein;OTTHUMP00000196614;light molecular weight neurofilament protein;neurofilament light polypeptide;neurofilament protein, light chain;neurofilament subunit NF-L;neurofilament triplet L protein;neurofilament, light polypeptide 68kDa;neurofilament-light APPROVED protein-coding 7739 01206 162280;607684;607734 REVIEWED 1314485 NEIL1 nei endonuclease VIII-like 1 (E. coli) This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 15 15 q24.2 73426463 73434641 + 75639331 75647592 + 1580863;6480464;6907045 17611195;19179336;19047128;18662981;18594018;18543945;18515411;18155253;18032376;17556049;17432829;17395641;17348689;17150535;17029639;16446124;16344560;16118226;15533839;15489334;15350146;15319300;15260972;15232006;15159582;14734554;14702039;14522990;12509226;12477932;12433996;12200441;11904416;21131780;19258314;19443904;20005182;20099873;20496165;20522537;20338831;20346739;19840299;21068368;21832049;21697813;22623531;22902625;22170059;22639086;21985917;22286769;22858590;23104860;23508956;22465744 79661 H3BM98;H3BN83;H3BQE8;H3BQU8;H3BRZ2;H3BST2;H3BSZ5;H3BT75;H3BT94;H3BTX5;H3BU98;Q96FI4 AB079068;ABBA01060521;ABBA01060522;AC068338;AK026055;AK026216;AK097008;AK128372;AMYH01006814;AY257544;BC010876;CH471136;DB282730;NM_001256552;NM_024608;NR_046311 AAH10876;AAO74826;ABM82356;ABM85531;BAB15337;BAC06476;EAW99255;EAW99256;EAW99257;EAW99258;EAW99259;EAW99260;NP_001243481;NP_078884;Q96FI4 Hs.512732 1646966 WI-12510 FLJ22402;FPG1;NEI1;hFPG1 DNA glycosylase/AP lyase Neil1;DNA-(apurinic or apyrimidinic site) lyase Neil1;NEH1;OTTHUMP00000183482;endonuclease 8-like 1;endonuclease VIII;endonuclease VIII-like 1;nei homolog 1;nei-like protein 1 APPROVED protein-coding ENSG00000140398 18448 12314 608844 VALIDATED 1345015 NEK2P1 NEK2 pseudogene 1 14 14 q11.2 19166779 19169042 + 20097140 20099257 + 326302 ABBA01013152;AL512310;AL929601;AMYH01005572;NG_002554 NEK2P APPROVED pseudo 19272 INFERRED 2859133 NEK2P2 NEK2 pseudogene 2 22 q11.1 16364867 16366204 + 100379667 AMYH01012384;AP000532;NG_016726 pseudo 37816 INFERRED 3077625 NEK2P3 NEK2 pseudogene 3 14 q11.1 19474481 19476597 - 100158258 ABBA01007685;AMYH01005467;CR383656;NG_007923 pseudo 37817 INFERRED 3322039 NEK2P4 NEK2 pseudogene 4 2 2 q21.1 124641053 124642381 + 131935191 131936519 - 100381202 ABBA01004563;AC009477;AMYH01011086;NG_016766 pseudo 37818 INFERRED 1319690 NEK1 NIMA-related kinase 1 The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 4 4 4 q33 167647120 167866584 - 170551004 170770189 - 170314421 170533778 - 1580863;6480464;7240710 14690447;15231747;15604234;18843199;15345747;14702039;12477932;11572484;10508479;8274451;1382974;19924516;20230784;20501547;20800603;16344560;21211617;21301226;23255108;18029348;21139048;22482978;22318606;22499340;23345434 4750 D6RBG5;H0Y8M6;Q5JXL9;Q9Y594 AB067488;ABBA01070342;AC084724;AC116615;AC116621;AF155113;AI984346;AK025658;AK027580;AL050385;AMYH01014701;AMYH01014702;AMYH01014703;BC015147;BC037790;BC068201;BC114491;CD358162;CH471056;CR933642;CR936672;DA697159;NG_027982;NM_001199397;NM_001199398;NM_001199399;NM_001199400;NM_012224;Z25431 AAD42879;AAH15147;AAH37790;AAI14492;BAB15207;BAB55209;BAB67794;CAA80918;CAI45943;CAI46225;EAX04787;EAX04788;EAX04789;EAX04790;EAX04791;NP_001186326;NP_001186327;NP_001186328;NP_001186329;NP_036356;Q96PY6 Hs.481181 1658831;1748709;1749093;1750037;1750147;1767689;2120830;2144343;2149220 D4S1224;D4S1225;SHGC-110356;SHGC-110749;SHGC-111724;SHGC-112276;SHGC-44466;SHGC-67657;STS-F04957 DKFZp686D06121;DKFZp686K12169;KIAA1901;MGC138800;NY-REN-55;SRPS2;SRPS2A NIMA (never in mitosis gene a)-related kinase 1;OTTHUMP00000219422;OTTHUMP00000219432;OTTHUMP00000219433;OTTHUMP00000219434;OTTHUMP00000219435;never in mitosis A-related kinase 1;nimA-related protein kinase 1;protein-serine/threonine kinase;renal carcinoma antigen NY-REN-55;serine/threonine-protein kinase Nek1 APPROVED protein-coding ENSG00000137601 7744 06847 263520;604588 REVIEWED 1323805 NEIL2 nei endonuclease VIII-like 2 (E. coli) NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226])[supplied by OMIM, Mar 2008] 8 8 p23.1 11664666 11682263 + 11627172 11644854 + 6480464;6907045 18651651;18594018;18515411;17686777;17150535;17029639;16982218;16381901;16344560;15489336;15489334;15339932;15175427;14734554;14702039;14522990;12509226;12477932;12200441;12097317;11230166;11076863;8125298;22497777;20175991;20496165;20522537;15572695;20819778;21507922;23291594;19489739;20534351;22199273;21906983;22130663;19322201;19424503 252969 E9PPL4;Q969S2 AB079070;ABBA01026877;AC069185;AK056206;AK097389;AK225837;AK294224;AMYH01018482;AY306127;BC013952;BC013964;BC045822;BX537529;CH471157;DA205315;DA207321;DB452586;NM_001135746;NM_001135747;NM_001135748;NM_145043 AAH13952;AAH13964;AAH45822;AAP45052;ACE86921;ACE87608;BAB71120;BAC05030;BAC06478;BAG57528;CAD97774;CAL38464;EAW65623;EAW65624;EAW65625;EAW65626;NP_001129218;NP_001129219;NP_001129220;NP_659480;Q969S2 Hs.293818 1681604;1712270;1777675;1855852;2109551;2140107 A008R37;Cda1jc12;G54043;IB46;NEIL2__6226;RH108 FLJ31644;MGC2832;MGC4505;NEH2;NEI2 DNA glycosylase/AP lyase Neil2;DNA-(apurinic or apyrimidinic site) lyase Neil2;OTTHUMP00000116006;OTTHUMP00000229177;OTTHUMP00000229179;OTTHUMP00000229180;OTTHUMP00000229498;endonuclease 8-like 2;endonuclease VIII-like 2;nei homolog 2;nei like 2;nei-like protein 2 APPROVED protein-coding ENSG00000154328 18956 16406 608933 VALIDATED 5128963 NEK4P1 NIMA-related kinase 4 pseudogene 1 21 21 3752956 3753844 - 18582786 18583674 - 100421718 ABBA01057108;AMYH01012145;AP000457;NG_025027 APPROVED pseudo 39649 INFERRED 5128960 NEK4P2 NIMA-related kinase 4 pseudogene 2 17 17 16472314 16473322 - 16569419 16570427 - 100421734 ABBA01035647;AC098850;AMYH01008150;NG_026146 APPROVED pseudo 39650 INFERRED 1350326 NEK10 NIMA-related kinase 10 3 3 3 p24.1 27193380 27347291 - 27127398 27307988 - 27257097 27410912 - 6480464 19330027;15289607;14702039;12477932;20095854;20145138;20379614;20956560;21110914;21906983;22318606 152110 C9JJN0;H7C000;H7C3L8;Q6ZWH5;Q8N774 ABBA01025004;ABBA01025005;AC093555;AC098931;AC099535;AC133142;AK057247;AK098832;AK123061;AK128585;AMYH01013045;BC045758;BX537852;CH471055;DQ104438;NM_199347 AAH45758;AAZ20184;BAB71395;BAC05427;BAC85527;BAC87513;CAD97860;EAW64376;EAW64377;EAW64378;EAW64379;EAW64380;NP_955379;Q6ZWH5 Hs.506115;Hs.743887 1690508;1697248;1705944;1747799;2166861 G66795;RH102118;RH36414;RH92252;SHGC-79673 FLJ32685 NIMA (never in mitosis gene a)- related kinase 10;OTTHUMP00000208385;never in mitosis A-related kinase 10;nimA-related protein kinase 10;serine/threonine-protein kinase Nek10 APPROVED protein-coding ENSG00000163491 18592 08135 VALIDATED 5128961 NEK4P3 NIMA-related kinase 4 pseudogene 3 10 10 60082989 60083940 + 66813813 66814764 + 100421728 ABBA01019521;AL590411;AMYH01002782;NG_025511 APPROVED pseudo 39651 INFERRED 1352319 NEIL3 nei endonuclease VIII-like 3 (E. coli) NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008] 4 4 4 q34.3 175558124 175611235 + 178467985 178521086 + 178230991 178284092 + 6480464;6907045 22365498;19170771;18515411;18270339;17903306;15489334;15342556;15146197;14702039;12713815;12509226;12477932;12433996;12200441;19121397;22569481;21890473;21906983;22505724 55247 D6RAV1;Q8TAT5 AB079071;ABBA01070425;ABBA01070426;AC027627;AI419161;AK001720;AK307692;AMYH01014739;BC025954;BE865481;BP380910;CH471056;CN426741;DQ310721;NM_018248 AAH25954;ABC40719;BAA91860;BAC06479;EAX04716;NP_060718;Q8TAT5 Hs.405467 1710818;5024039;5037552 D16S325;D8S2279;SHGC-84154 FGP2;FLJ10858;FPG2;NEI3;hFPG2;hNEI3 DNA glycosylase FPG2;DNA glycosylase hFPG2;DNA glycosylase/AP lyase Neil3;OTTHUMP00000218810;endonuclease 8-like 3;endonuclease VIII-like 3;nei-like protein 3 APPROVED protein-coding ENSG00000109674 24573 16407 608934 VALIDATED 1322471 NEK7 NIMA-related kinase 7 NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002] 1 1 1 q31.3 171248701 171414114 + 196468306 196555392 + 198126108 198291550 + 1580863;6480464 17353931;19414596;17586473;17101132;12840024;11701951;10964517;19941817;20056645;20508983;20562859;19454010;17727698;21642957;21139048;22100915;21890473;23000965;23313050;22505724 140609 B2R8K8;C9J1H8;F5H3U7;F8WAG2;Q8TDX7 AB062450;ABBA01027579;ABBA01027580;AC093419;AC093561;AK313411;AL080111;AMYH01001627;BC043003;CH471067;DB498485;NM_133494 AAI52873;AAI56617;BAB85632;BAG36205;EAW91293;EAW91294;EAW91295;EAW91296;NP_598001;Q8TDX7 Hs.24119;Hs.745083 1338733;1652100;1656750;1657015;1659601;1663758;1678391;1716739;1716779;1726437;1735954;1755781;1846769;2150381;5093790;5121314 A009W39;AL009615;D1S2432;D1S2491;D1S2840;DXS6982E;G32925;G62598;RH121661;RH121684;RH46583;RH68457;SGC38295;SHGC-142623;SHGC-76107;WI-17822 NIMA (never in mitosis gene a)-related kinase 7;OTTHUMP00000033680;OTTHUMP00000238689;never in mitosis A-related kinase 7;nimA-related protein kinase 7;serine/threonine-protein kinase Nek7 APPROVED protein-coding ENSG00000151414 13386 06027 606848 VALIDATED 1318782 NEK11 NIMA-related kinase 11 This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009] 3 3 3 q22.1 129170940 129494974 + 132228417 132551993 + 130745694 131069309 + 6480464 15161910;18519826;15489334;14702039;12742165;12477932;12154088;8889548;18029348;19734889;20090422;20379614;21832049 79858 B4DDN2;B4DM56;D6RGV6;D6RJF7;E9PHI8;Q8NG66 AB071996;AB071997;ABBA01059195;ABBA01059196;ABBA01059197;ABBA01059198;AC010210;AC055733;AC083908;AC116424;AC121332;AK027148;AK123021;AK293261;AK297300;AK316352;AL833472;AMYH01013493;AMYH01013494;AMYH01013495;BC009414;BC026195;BC028587;BU674219;BX328072;CH471052;NG_029225;NM_001146003;NM_024800;NM_145910 AAH28587;BAB15672;BAC06350;BAC06351;BAG56793;BAG59768;BAH14723;CAI46114;EAW79212;EAW79213;NP_001139475;NP_079076;NP_665917;Q8NG66 Hs.657336 1342157;1759091;1760319;2123875;2128868;2159937;7187851 D3S1587;RH46449;RH77838;SGC38075;SHGC-141247;SHGC-150601 FLJ23495 NIMA (never in mitosis gene a)- related kinase 11;OTTHUMP00000216112;OTTHUMP00000216137;OTTHUMP00000216138;OTTHUMP00000216139;OTTHUMP00000216140;OTTHUMP00000216604;never in mitosis A-related kinase 11;nimA-related protein kinase 11;serine/threonine-protein kinase Nek11 APPROVED protein-coding ENSG00000114670 18593 14821 609779 REVIEWED 732517 NEK2 NIMA-related kinase 2 This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011] 1 1 q32.2-q41 209902745 209915590 - 211831598 211848972 - 1580863;6480464 9647649;10880350;18086858;9430639;11742988;19123481;19038001;19008095;18297113;17626005;17621308;17535851;17283141;17197699;16710414;16084011;15950749;15659832;15659651;15492258;15489334;15387139;15358203;15252450;15161910;14978040;12857871;12477932;12386167;12221103;11785960;11742531;10645953;10347187;8274451;8125298;7522034;9295362;16157594;22234886;20718755;20734064;11076968;12221128;12852856;16462731;16648845;20508983;7790358;20581865;20599736;21076410;16280549;21669869;20360068;21723128;21139048;21890473;21906983;21382349;21963094;22824957;23001753;21832156;21900206;22014044;22321011;22623531;15311285;22879911;23080069;23160376;23288039;23383273;22613497;23340795;15147269 4751 B4DZU0;P51955 ABBA01048189;AC096637;AK223353;AK225522;AK303092;AL356310;AMYH01001701;AY045701;AY863109;BC043502;BC052807;BC065932;BT019729;BU517064;CH471100;DC407297;DQ786247;DQ786281;NG_029112;NM_001204182;NM_001204183;NM_002497;U11050;Z25425;Z29066 AAA19558;AAH43502;AAH52807;AAH65932;AAK92212;AAV38534;AAW56418;BAD97073;BAG64202;CAA80912;CAA82309;EAW93410;EAW93411;NP_001191111;NP_001191112;NP_002488;P51955 Hs.153704 1664142;1676604;2141534;2219986;5016781;5020403;5022578;5037552 D14S1215;D1S1423;D8S2279;NEK2__6227;RH68293;RH92597;SHGC-67307;SHGC-76300 HsPK21;NEK2A;NLK1 NIMA (never in mitosis gene a)-related kinase 2;OTTHUMP00000035216;OTTHUMP00000035217;never in mitosis A-related kinase 2;nimA-like protein kinase 1;nimA-related protein kinase 2;serine/threonine-protein kinase Nek2 APPROVED protein-coding ENSG00000117650 7745 04953 604043 REVIEWED 1312757 NEK4 NIMA-related kinase 4 3 3 3 p21.1 52723506 52783686 - 52719840 52779991 - 52744796 52804965 - 1580863;6480464 8208544;19416921;12477932;9552363;601959;16344560;18029348;20103636;20734064;20800603;21685204;21926972;22851694 6787 E7EX48;F8WAX1;H7C5M0;P51957;Q05DF6 ABBA01024498;ABBA01024499;AC006254;AC104446;AI860526;AK294165;AK312420;AMYH01013188;BC015515;BC063044;CH471055;DB073127;EF560744;L20321;NM_001193533;NM_003157 AAA36658;AAH15515;AAH63044;ABQ59054;BAG35330;BAH11686;EAW65258;NP_001180462;NP_003148;P51957 Hs.631921 1698540;1737555;2152130 D3S3128;RH102821;SHGC-77006 MGC33171;NRK2;STK2;pp12301 NIMA (never in mitosis gene a)-related kinase 4;OTTHUMP00000213580;OTTHUMP00000213581;OTTHUMP00000213582;never in mitosis A-related kinase 4;nimA-related protein kinase 4;serine/threonine kinase 2;serine/threonine protein kinase-2;serine/threonine-protein kinase 2;serine/threonine-protein kinase NRK2;serine/threonine-protein kinase Nek4 APPROVED protein-coding ENSG00000114904 11399 11880 601959 VALIDATED 1344374 NEK5 NIMA-related kinase 5 13 13 13 q14.3 33687535 33751861 - 51536899 51601215 - 52638898 52703214 - 6480464 15489334;15057823;12477932;9552363 341676 E9PIX7;Q6P3R8 ABBA01051056;ABBA01051057;ABBA01051058;AK126330;AL139082;AMYH01005119;BC063885;NM_199289 AAH63885;NP_954983;Q6P3R8 Hs.672144 1730576;2111146;2111728;5020948 D13S133;D13S1630;D13S296;G35510 MGC75495 NIMA (never in mitosis gene a)-related kinase 5;OTTHUMP00000018442;never in mitosis A-related kinase 5;nimA-related protein kinase 5;serine/threonine-protein kinase Nek5 APPROVED protein-coding ENSG00000197168 7748 PROVISIONAL 1316605 NEK3 NIMA-related kinase 3 This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 13 13 13 q14.13 33755426 33782643 - 51604780 51631997 - 52706779 52733996 - 1580863;6480464 15618286;7522034;17297458;17118778;16344560;15489334;15345747;12477932;12063396;10224116;8889548;8274451;20379614;21756249;21988832;23703321 4752 F8VS47;F8VTT4;F8VV00;F8VXS4;G3V202;J3KPF4;P51956;Q6ZN64 AB072828;ABBA01051058;ABBA01051059;AI026881;AI209040;AK131359;AK290259;AL139082;AL833951;AMYH01005119;BC019916;BM984985;BQ648157;CH471075;DA733733;DB185803;H15146;NM_001146099;NM_002498;NM_152720;NR_027415;Z25434;Z29067 AAH19916;ABM82729;ABM85913;BAC15599;BAD18511;BAF82948;CAA80921;CAA82310;CAI46210;EAX08905;EAX08906;EAX08907;EAX08908;EAX08909;NP_001139571;NP_002489;NP_689933;P51956 Hs.409989 1694574;1721479;1779074;2111148;5014053 D13S297;D1S3693;G43267;G59593;RH68007 HSPK36;MGC29949 HSPK 36;NIMA (never in mitosis gene a)-related kinase 3;OTTHUMP00000018443;OTTHUMP00000018444;OTTHUMP00000243364;OTTHUMP00000243401;OTTHUMP00000243402;glycogen synthase A kinase;hydroxyalkyl-protein kinase;never in mitosis A-related kinase 3;nimA-related protein kinase 3;phosphorylase B kinase kinase;serine/threonine-protein kinase Nek3 APPROVED protein-coding ENSG00000136098 7746 04954 604044 REVIEWED 1347059 NEK6 NIMA-related kinase 6 The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 q33.3-q34.11 126060070 126154542 + 127019885 127114721 + 1580863;6480464 14563848;16476580;17353931;12761501;12054534;19414596;18728393;17512906;16189514;15761153;15489334;15342556;12840024;12477932;12101123;12023960;11701951;11516946;10964517;10702691;10191262;19001501;20677014;20873783;16344560;20379614;20595392;20407017;21099361;21539811;21454704;16280549;21320329;21642957;21890473;21725899;22939629;21988832;23416273;20125193 10783 Q5TBG1;Q5TBG2;Q5TBG4;Q5TBG7;Q5TBH0;Q5TBH1;Q5TBH2;Q9HC98 AB026289;ABBA01043744;AF087909;AJ420460;AK294614;AK313071;AL137846;AL162724;AMYH01021704;AMYH01021705;BC000101;BC004174;BC004209;BC012761;BM083872;BP219389;BP265230;BP279761;CF994196;CH471090;CR457091;CR542222;DB350175;NM_001145001;NM_001166167;NM_001166168;NM_001166169;NM_001166170;NM_001166171;NM_014397 AAG13417;AAH00101;AAH04174;AAH04209;AAH12761;BAA85045;BAG35899;BAH11825;CAG33372;CAG47018;EAW87578;EAW87579;EAW87580;EAW87581;NP_001138473;NP_001159639;NP_001159640;NP_001159641;NP_001159642;NP_001159643;NP_055212;Q9HC98 Hs.197071 1643979;1667033;1715281;1787074;2167111;2172202;2175049;2183865;2183867 A006A17;G20648;RH11482;RH11599;RH119892;RH12239;RH77983;SGC33089;SHGC-154753 SID6-1512 NIMA (never in mitosis gene a)-related kinase 6;OTTHUMP00000022094;OTTHUMP00000022095;OTTHUMP00000022096;OTTHUMP00000022097;OTTHUMP00000022098;OTTHUMP00000022099;OTTHUMP00000022100;OTTHUMP00000022101;never in mitosis A-related kinase 6;nimA-related protein kinase 6;protein kinase SID6-1512;putative serine-threonine protein kinase;serine/threonine-protein kinase Nek6 APPROVED protein-coding ENSG00000119408 7749 05348 604884 REVIEWED 1315774 NEK8 NIMA-related kinase 8 This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008] 17 17 17 q11.1 23914995 23928979 + 24079959 24093911 + 27055832 27069784 + 1580863;6480464 17474147;18199800;15872312;15761153;15489334;15019993;12477932;11864968;19066617;21068128;23314748;22939624;23026745;22106379 284086 K7EL04;K7EMF0;K7END4;K7EPD3;Q86SG6 ABBA01015047;ABBA01015048;AC010761;AK301429;AL833909;AMYH01008283;AY242354;AY267371;BC112240;BC113705;CH471159;NG_012263;NM_178170 AAI12241;AAI13706;AAO88243;AAP04006;ADR83101;BAG62957;CAD38765;EAW51135;EAW51136;EAW51137;NP_835464;Q86SG6 Hs.448468 5037552 D8S2279 JCK;MGC138445;NEK12A;NPHP9 NIMA (never in mitosis gene a)- related kinase 8;NIMA-family kinase NEK8;NIMA-related kinase 12a;nephrocystin 9;never in mitosis A-related kinase 8;nimA-related protein kinase 8;nima-related protein kinase 12a;serine/threonine-protein kinase Nek8;serine/thrionine-protein kinase NEK8 APPROVED protein-coding 13387 14822 609799;613824 REVIEWED 1343844 NEM1 nemaline myopathy 1, autosomal dominant 7240710 4754 7752 161800;255310;609284 1316228 NEK9 NIMA-related kinase 9 14 14 q24.3 74620728 74663389 - 75548818 75593778 - 6480464 17353931;18029348;17443675;17192257;17081983;15489334;15019993;14660563;12840024;12508121;12477932;12101123;12056414;11864968;8889548;19001501;20562859;16902406;19941817;20508983;22863883;21454704;21642957;22818914;17314511;21735226;20360068;21139048;21890473;21906983;22939624;23482567 91754 G3V2Z5;G3V459;G3V5V0;G3V5V6;Q6PKF2;Q8TD19 AB082526;ABBA01030707;AC007055;AK128693;AL049780;AL117502;AL832633;AL833036;AMYH01005857;AY048580;AY080896;BC001714;BC009336;BC093881;BC112101;BM976692;CH471061;DB455229;NM_033116 AAD31936;AAD31938;AAD31939;AAD31940;AAH01714;AAH09336;AAH93881;AAI12102;AAL05428;AAL87410;BAC02704;BAG54712;EAW81220;EAW81221;EAW81222;NP_149107;Q8TD19 Hs.7200 1653853;1678989;1740669;1767117;2117294;5015881;5037552 D14S1275;D14S860;D8S2279;G35839;GDB:335751;RH93908;STS-AA027231 DKFZp434D0935;MGC138306;MGC16714;NERCC;NERCC1;Nek8 NIMA (never in mitosis gene a)- related kinase 9;NIMA-related kinase Nek8;OTTHUMP00000246810;nercc1 kinase;never in mitosis A-related kinase 9;nimA-related kinase 8;nimA-related protein kinase 9;serine/threonine-protein kinase Nek9 APPROVED protein-coding ENSG00000119638 18591 11386 609798 VALIDATED 1313651 NELFA negative elongation factor complex member A This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008] 4 4 p16.3 1954248 1980547 - 1984441 2010962 - 1580863;6480464 15302935;14702039;12715353;12612062;12563561;12477932;11940650;11387440;11280764;11150502;11112772;10199401;16344560;15489334;9110174;9063753;8619474;8125298;16838299;10409432;12676794;17499042;17081983;16964243;17643375;20379614;21832049;19471022;20305087;21139048;21890473;22328085;19245807;17442680 7469 B3KSP0;C9JEM7;C9JHL4;F8W954;F8WF98;H0Y3X6;H7C0W2;H7C2C7;H7C2M8;H7C3C2;Q9H3P2 AB044549;ABBA01029524;AF101434;AF131751;AI218582;AI560345;AK001304;AK094040;AK095737;AK126056;AK222853;AL132868;AMYH01013873;BC002764;CH471131;DB082393;NG_009232;NM_005663 AAC72982;AAD20034;AAH02764;ACE86425;ACE87100;BAB18651;BAD96573;BAG50890;BAG52802;BAG53117;BAG54283;EAW82545;EAW82546;EAW82547;NP_005654;Q9H3P2 Hs.21771 1777033;2108999;2148682;2183477;2183479 A005A46;G20233;SHGC-59825;SHGC-67592;WHSC2_8727 FLJ10442;FLJ25112;NELF-A;P/OKcl.15;WHSC2 OTTHUMP00000114626;OTTHUMP00000211580;negative elongation factor A;wolf-Hirschhorn syndrome candidate 2 protein APPROVED protein-coding 12768 12080 606026 REVIEWED 1603677 NELFB negative elongation factor complex member B NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008] 9 9 q34 139269768 139287815 + 140149759 140168000 + 6480464 11739404;14667819;17474147;11256614;12676794;18071589;17910036;17659869;17499042;17442680;16964243;16452188;16381901;16344560;15530430;15489336;15489334;15342491;15302935;15185750;14702039;12612062;12477932;11230166;11112772;11076863;10574461;10199401;16838299;17353931;20211142;11940650;22863883;21900206;18029348;20305087;21139048;21890473;21906983;19245807 25920 Q8WX92 AB033008;ABBA01022752;AF464935;AK022651;AK091056;AL050280;AMYH01021896;AMYH01021897;BC011892;BC019029;BX255925;CH471090;DA210427;NM_015456 AAH11892;AAL69965;BAA86496;BAB14157;BAG52272;CAB43381;CAL38167;EAW88377;EAW88378;NP_056271;Q8WX92 Hs.521809 COBRA1;DKFZp586B0519;KIAA1182;NELF-B;RP13-122B23.3 OTTHUMP00000162585;cofactor of BRCA1;negative elongation factor B;negative elongation factor protein B APPROVED protein-coding ENSG00000188986 24324 10845 611180 VALIDATED 1344973 NELFE negative elongation factor complex member E The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p21.3 32027843 32034843 - 31919864 31926864 - 1580863;6480464 2119325;14667819;18029348;12676794;19143814;19115949;18303858;17499042;17081983;16964243;16898873;16880520;15561718;15489334;15342491;15302935;14656967;14574404;12612062;12477932;11940650;11112772;10199401;10072631;9799600;9776767;9264031;8373374;3353717;2612324;16838299;16169070;17353931;17643375;19556007;19615732;19851445;20097260;22614758;20305087;21139048;21890473;19245807;17442680;20471948;22740393 7936 A2ABK1;A2ABK2;A2ABK4;B4DUN1;B4DYX9;E7ENC7;E7EWR7;E9PD43;P18615 ABBA01038099;AF019413;AK300717;AK300898;AK302652;AK303152;AL049547;AL645922;AL662849;AL844853;AMYH01016223;BC025235;BC050617;BU935034;BX005143;CD579634;CH471081;CR388219;CR753845;CR759782;JQ313904;L03411;M32274;M32275;M32276;M33230;M33231;NM_002904;U37117;X16105 AAA36308;AAB67979;AAC37523;AAH25235;AAH50617;AAK29466;ABM87846;AFH41798;BAG62393;BAG63891;BAG64255;BAH13370;CAA34231;CAB89308;EAX03551;EAX03552;EAX03553;NP_002895;P18615 Hs.423935 1730059;1775756;2108419;2128137;2137638 D6S45;RDBP_8772;RH46865;RH70616;SHGC-12705 D6S45;NELF-E;RD;RDBP;RDP OTTHUMP00000029051;OTTHUMP00000174687;OTTHUMP00000174689;OTTHUMP00000174710;OTTHUMP00000215985;OTTHUMP00000215986;RD RNA binding protein;RD RNA-binding protein;RNA-binding protein RD;major histocompatibility complex gene RD;negative elongation factor E;negative elongation factor polypeptide E;nuclear protein APPROVED protein-coding ENSG00000204356 13974 01096 154040 REVIEWED 3322382 NEPNP nephrocan, pseudogene Nephrocan is a secreted glycoprotein that acts as an inhibitor of the transforming growth factor-beta signaling pathway. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, May 2010] 6 6 6 q22.1 118666992 118709154 + 118030784 118072943 + 117924091 117966250 + 6480464 16990280;18085818;20210993 442253 ABBA01026035;ABBA01026036;ABBA01026037;AL589939;AMYH01016620;NG_008306 NEPN;NPN APPROVED pseudo 33184 INFERRED 1346942 NELFCD negative elongation factor complex member C/D The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008] 20 20 q13 56989706 57003583 + 57556263 57570188 + 6480464 12620389;12676794;19136554;17621989;17499042;17131388;16169070;15489334;15231748;14702039;14684750;12612062;12477932;11952167;11780052;11112772;11042152;11030415;10199401;8889548;16838299;17353931;20735431;19673036;20028984;20069563;11874472;19471022;20305087;21139048;21693764;21890473;21906983;21078624;22238675;17442680;19245807 51497 H0UI80;Q9UGN1 AA831111;ABBA01005967;AF161479;AJ238374;AJ238375;AJ238376;AJ238379;AK001316;AK023310;AK023927;AK127431;AK293410;AK304310;AL109840;AMYH01012024;BC014952;BI459250;BM974193;BQ022435;BX647417;CH471077;HY015074;NM_198976 AAF29094;AAH14952;ADZ15928;BAA91618;BAB14519;BAB14729;BAG56917;BAG65163;CAB64337;CAB64339;CAB64373;EAW75451;EAW75452;EAW75453;EAW75454;EAW75455;EAW75456;NP_945327;Q8IXH7 Hs.517148 2109945;2117088;2140488;2143297;2150856;5017829 A004R34;AL031482;RH48060;SHGC-31778;TH1L;TH1L_9726 HSPC130;NELF-C;NELF-D;TH1;TH1L NELF-C/D;OTTHUMP00000031412;OTTHUMP00000031415;TH1 drosophila homolog;TH1-like protein;negative elongation factor C/D;negative elongation factor proteins C and D;trihydrophobin 1 APPROVED protein-coding ENSG00000101158 15934 16096 605297 REVIEWED 732316 NELL2 NEL-like 2 (chicken) The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] 12 12 12 q12 43705353 44111067 - 43188332 43556405 - 44902058 45307711 - 1580863;6480464 9480764;16713569;16344560;15489334;15340161;14702039;12477932;10548494;10231576;8975702;20379614;19249368;21078624;21900206 4753 B7Z625;F8VRQ0;F8VVB6;F8VXR5;F8VZ72;F8W1A2;F8W1I8;H0YHY5;H0YI34;H0YIT4;Q99435 ABBA01031431;ABBA01031432;ABBA01031433;ABBA01031434;ABBA01031435;ABBA01031436;ABBA01031437;AC018923;AC025253;AC079033;AC079825;AC090012;AK056082;AK095637;AK295125;AK297521;AK299277;AK299733;AK309825;AK315960;AK316058;AL527608;AMYH01004420;BC020544;CH471111;CQ840944;D83018;D89629;DA307194;DB316660;DC314160;FB353554;GN344091;NM_001145107;NM_001145108;NM_001145109;NM_001145110;NM_006159 AAH20544;BAA11681;BAB46925;BAG53095;BAH11983;BAH12604;BAH12990;BAH13111;BAH14331;BAH14429;CAH05709;CAR82358;CAY55981;EAW57873;EAW57874;EAW57875;NP_001138579;NP_001138580;NP_001138581;NP_001138582;NP_006150;Q99435 Hs.505326 1661529;1703890;1728597;1746369;1746393;1764255;2110121;2134183 CH12SSR4;D12S1456;G63590;G64360;G64640;SHGC-147878;SHGC-83596;WI-14991 NRP2 NEL-like protein 2;NEL-related protein 2;OTTHUMP00000241187;OTTHUMP00000241188;OTTHUMP00000241189;OTTHUMP00000241190;OTTHUMP00000241191;OTTHUMP00000241192;neural epidermal growth factor-like 2;protein kinase C-binding protein NELL2 APPROVED protein-coding ENSG00000184613 7751 11891 602320 REVIEWED 733264 NELL1 NEL-like 1 (chicken) This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 11 11 p15.1 20647712 21553577 + 20691117 21597232 + 1580863;633405;6480464 12235118 8975702;19422935;19174780;18987618;18519826;18082140;17684544;17452981;17042739;16713569;16344560;15489334;15124103;14702039;14659887;12477932;11803583;10548494;10231576;9893069;7757816;22823124;20959151;20647499;20200953;20379614;20800603;19913121;20628086;22264144;23017834;21723284;21078624;21615216;21902605;22767336;21931789;22797704;22379998;22580275;21472827;22495925;22952603;23251661;23400010 4745 B3KXR2;F5H6I3;J3KNC5;Q92832 AA971151;AB085898;ABBA01061018;ABBA01061019;ABBA01061020;ABBA01061021;ABBA01061022;ABBA01061023;ABBA01061024;ABBA01061025;ABBA01061026;AC010811;AC067794;AC069575;AC087279;AC090707;AC090857;AC099730;AC105190;AC108460;AK093338;AK127805;AK299558;AK303736;AK313445;AMYH01003436;AMYH01003437;BC069674;BC096100;BC096101;BC096102;BC096103;BX476569;CH471064;CQ840941;D83017;DA165320;H10041;JX565026;NM_006157;NM_201551;U57523 AAB06946;AAH69674;AAH96100;AAH96101;AAH96102;AAH96103;AFY98543;BAA11680;BAC04136;BAC22636;BAG36234;BAG54574;BAG61502;BAG64709;CAH05708;EAW68326;EAW68327;EAW68328;NP_006148;NP_963845;Q92832 Hs.657172 1655889;1680930;1707020;1717433;1717779;1721109;1724215;1724217;1731523;1737641;1737905;1738021;1738079;1748707;1748711;1753101;1753307;1755413;1761985;1763835;1764417;1780038;1782454;1787638;1855797;1856942;2130831;2137527;2139639;2174755;5016444;5127609 A006T21;D11S1114;D11S1246;D11S3241;D11S3509;D11S3635;D11S3703;D11S4002;D11S4027;D11S4028;D11S4434;G31103;G59539;L18001;RH121244;RH121245;RH121799;RH122207;RH36082;RH98598;SHGC-110355;SHGC-110357;SHGC-142292;SHGC-145911;SHGC-147500;SHGC-148001;SHGC-154293;SHGC-155490;SHGC-156005;SHGC-68638;SHGC-81017;SHGC-81836 FLJ45906;IDH3GL;NRP1 NEL-like protein 1;NELL-1 protein short isoform;OTTHUMP00000231785;OTTHUMP00000231786;OTTHUMP00000231787;isocitrate dehydrogenase 3 (NAD+) gamma-like;nel-related protein 1;neural epidermal growth factor-like 1 APPROVED protein-coding ENSG00000165973 7750 09081 602319 REVIEWED 1603399 NENF neudesin neurotrophic factor This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009] 1 1 1 q32.3 185831945 185845437 + 210672903 210686344 + 212606229 212619721 + 6480464 18056703;15605373;15489334;12477932;9771976;8125298;22939629;21890473 29937 Q9UMX5 AB126219;ABBA01048174;ABBA01048175;AC092803;AF000267;AF049672;AF173937;AK074431;AK223135;AMYH01001707;AY762102;BC008823;CH471100;DB502983;DB574171;NM_013349;NR_026598 AAD51419;AAH08823;AAX07829;BAD72063;BAD96855;EAW93389;NP_037481;Q9UMX5 Hs.461787 1337436;1674431;1712232;1759385;1854200;2126766 D1S505;G54024;SHGC-150586;SHGC-1592;SHGC-76309;STS-H56163 CIR2;NEUDESIN;SCIRP10;SPUF OTTHUMP00000034886;SCIRP10-related protein;Spinal cord injury related protein 10;cell growth-inhibiting protein 47;cell immortalization-related protein 2;neudesin;neuron-derived neurotrophic factor;secreted protein of unknown function APPROVED protein-coding ENSG00000117691 30384 11603 611874 REVIEWED 1317135 NEMF nuclear export mediator factor 14 14 14 q22 30118228 30186686 - 49320282 49389289 - 50250532 50319539 - 6480464 18029348;17081983;16103875;15489334;14702039;12477932;10575219;9610721;16341674;22939629;21890473 9147 G3V4D9;G3V547;G3V5V3;Q9NWG1 ABBA01018118;ABBA01018119;ABBA01018120;AF039687;AK000913;AK093783;AK293236;AK295010;AK304695;AK308537;AK314281;AL591767;AL627171;AMYH01005715;AMYH01005716;BC006001;BC020794;BC031007;BC041351;BC056687;BC064364;BC107764;BM477286;BM835709;BX640804;BX640807;BX648598;BX648753;CH471078;NM_004713 AAC18036;AAH06001;AAH20794;AAH56687;AAH64364;AAI07765;AAI46282;AAI48733;BAG52763;BAG56774;BAG58070;BAG65465;CAE45886;CAE45889;EAW65741;EAW65742;EAW65743;EAW65744;EAW65745;EAW65746;EAW65747;NP_004704;O60524 Hs.655964 1336084;1679277;1683647;1691206;1691992;2143849;2184283;5016596 AL033648;D14S1031;G29185;GDB:631802;RH41907;RH91823;RH93404;RH93701 FLJ10051;NY-CO-1;SDCCAG1 OTTHUMP00000178965;OTTHUMP00000244631;OTTHUMP00000244632;antigen NY-CO-1;nuclear export mediator factor NEMF;serologically defined colon cancer antigen 1 APPROVED protein-coding ENSG00000165525 10663 08494 608378 VALIDATED 737242 NES nestin This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011] 1 1 q23.1 154905179 154913813 - 156638555 156647189 - 1580863;1642069;1642074;1642072;1642071;6480655;6480464 16321245;17569338;17637254;17697621;21382035 9917366;18029348;19268442;18998057;18923447;18799194;18925963;18724228;18724036;18618166;18546018;18265627;17984177;17909025;17784840;17784648;17652163;17537965;17300669;17273760;17255215;17210924;17081983;17036052;16874866;16826367;16736556;16713999;16616189;16538520;16487364;16275024;16186627;16136494;15684833;15526158;15502861;15345747;15176089;15127288;15117961;15088413;15048922;14965830;14765974;14757413;14743441;14648588;14625035;14613807;14514635;12971951;12966727;12966327;12928287;12836073;12832492;12816052;12786777;12754281;12751206;12724646;12695551;12663072;12662433;12640742;12477932;12187925;12172785;12101039;12051722;11947939;11278541;11161590;10931522;10915564;10912785;10686078;10595912;9104587;4078630;1478958;22999866;22187705;22207173;22649953;22718289;22580387;22246533;21251041;21524985;20536663;19578047;19170896;19294612;19417621;19445653;19473053;19554024;19562035;19704967;19956860;20017104;20132963;20044038;19845757;20669222;19864043;20649878;22156015;22586326;20518888;16159877;20337823;20700038;21151388;20426902;22113177;21503585;19384922;19012049;21323603;21490921;21340483;21276080;21985235;22344865;20520523;21440298;21672338;21915031;21139048;21906983;20943257;22297445;22296500;22395498;21527990;22135720;22178090;22993065;23000965;23131160;22568867;22899289;22985576;23072594;22350668;22572237 10763 P48681;Q9H6U9 AB073350;ABBA01016652;AF004335;AF086454;AK025494;AL120767;AL590666;AMYH01001437;BC032580;BC051373;BC108285;BC142611;BF340882;BG912782;BQ678387;BU554136;CH471121;NG_012300;NM_006617;X65964 AAB64426;AAH32580;AAI08286;AAI42612;ACX32329;BAB15153;BAE45713;CAA46780;EAW52923;EAW52924;EAW52925;EAW52926;NP_006608;P48681 Hs.527971 1793088;1797898;1847181;2124601 NES_2469;PMC19509P1;RH69273;WI-17762 FLJ21841;Nbla00170 OTTHUMP00000032198;nestin APPROVED protein-coding ENSG00000132688 7756 09020 600915 REVIEWED 733424 NEO1 neogenin 1 This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 15 15 q22.3-q23 71131928 71384599 + 73344825 73597547 + 1580863;6480464 18391016;19570425;9169140;18583991;18445598;18326817;16335952;16324219;15489334;12833147;12636918;12477932;10366627;9121761;8861902;15494733;15258591;22666451;20575069;16244667;19564337;20237496;18287331;18029348;15923648;21149453;20971194;15520228;23744777;22396795;22705235;22893705;21139048;21890473;16075058;19322201 4756 Q59FP8;Q92859 AB209412;ABBA01038713;ABBA01038714;ABBA01038715;AC068397;AC104420;AC129980;AL355708;AL359597;AL390182;AMYH01006773;AMYH01006774;AMYH01006775;BC117161;BC143270;BC143271;BC143279;BM564445;CH471082;DB458571;DB478373;NG_016965;NM_001172623;NM_001172624;NM_002499;U61262;U72391 AAB17263;AAC51287;AAI17162;AAI43271;AAI43272;BAD92649;EAW77923;EAW77924;NP_001166094;NP_001166095;NP_002490;Q92859 Hs.388613 1663558;1681336;1851446;2108307;2125395;2126782;2173195;2173915 D15S622E;D15S905;G17863;G31056;L18126;NEO1_8502;RH93091;WI-15859 DKFZp547A066;DKFZp547B146;HsT17534;IGDCC2;NGN OTTHUMP00000164776;immunoglobulin superfamily DCC subclass member 2;neogenin;neogenin homolog 1 APPROVED protein-coding ENSG00000067141 7754 03549 601907 REVIEWED 1312823 NET1 neuroepithelial cell transforming 1 This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 10 10 p15 5444518 5490426 + 5454514 5501019 + 1580863;6480464;7240710 15851553;22343628;8649828;19124484;18827818;18509476;18214716;17938206;16741933;16552434;16344560;15719398;15717291;15684429;15611121;15489334;15342556;12477932;11350080;11278519;9535835;20562859;20547485;16385451;18478931;19586902;19615732;21284875;20078975;22927407;21373644;21390328;23184663;19322201;21987572;21139048;21906983;22505724 10276 B4E1Y1;Q5SQI5;Q5SQI6;Q5SQI7;Q7Z628 AB209852;ABBA01034780;ABBA01034781;AJ010046;AK024919;AK294244;AK299335;AK302687;AK304028;AK315566;AL732437;AMYH01002001;AMYH01002002;BC010285;BC053553;BP354878;BQ024592;BU633004;BX537509;CD722646;CH471072;DA727151;DB177813;DC307907;NM_001047160;NM_005863;NR_073040;S82401;U02081 AAB08847;AAB37683;AAH10285;AAH53553;BAD93089;BAG37941;BAG57540;BAG61338;BAG63916;BAG64943;CAA08974;EAW86445;EAW86446;NP_001040625;NP_005854;Q7Z628 Hs.25155 1782150;1854767;2139000;2139284;2148471;2148473;2168269;2174380;5017867 A004R05;A005V03;D10S2144;G20525;G30942;NET1;SHGC-155498;STS-U02081;WI-18301 ARHGEF8;NET1A OTTHUMP00000019002;OTTHUMP00000019003;Rho guanine nucleotide exchange factor (GEF) 8;guanine nucleotide regulatory protein (oncogene);neuroepithelial cell transforming gene 1;neuroepithelial cell-transforming gene 1 protein;neuroepithelioma transforming gene 1;p65 Net1 proto-oncogene protein;proto-oncogene p65 Net1;rho guanine nucleotide exchange factor 8;small GTP-binding protein regulator APPROVED protein-coding ENSG00000173848 14592 07342 604715;606450 REVIEWED 1348864 NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 18 18 18 q22.2 67266714 67386741 - 68565767 68685790 - 70409549 70534810 - 1580863;6480464 15489334;12477932;11943477;19913121;20628086;14702039;19243221;20499253;8889548;22205981;22566634;23408906 81832 J3QRF5;Q8TDF5 ABBA01056309;ABBA01056310;ABBA01056311;AC023301;AC091138;AF448838;AF448839;AK123319;AL834354;AMYH01009092;BC050329;BU739516;CH471117;NM_001201465;NM_138966;NM_138999 AAH50329;AAM18026;AAM18027;CAD39019;EAW66530;EAW66531;EAW66532;EAW66533;NP_001188394;NP_620416;NP_620552;Q8TDF5 Hs.465407 1672965;1707406;5107133 G65692;SHGC-84490;WI-14307 BCTL1;BTCL1;FLJ41325 OTTHUMP00000163731;OTTHUMP00000163732;OTTHUMP00000197091;brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1;neuropilin and tolloid-like protein 1 APPROVED protein-coding ENSG00000166342 13823 16264 607973 REVIEWED 1313264 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 16 16 16 q11 31623547 31686008 - 45672943 45735409 - 47115431 47177936 - 1580863;6480464 15489334;15340161;14702039;12975309;12477932;11943477;16344560;17671192;18841201;19217376;19349369;19322201 81831 H3BM37;H3BSR0;H3BTE1;J3KNF1;Q32NC3;Q8NC67 ABBA01013757;AC007338;AC007494;AK001292;AK027478;AK027630;AK074937;AK297408;AL834404;AMYH01007644;AX164139;AY358718;BC012381;BC065504;BC098380;BC108727;BX538063;CH471092;CQ783994;CR457255;DA117339;NM_001201477;NM_018092 AAH12381;AAI08728;AAI52766;AAI56956;AAQ89080;BAA91604;BAB55141;BAB55247;BAC11303;BAH12573;CAD39066;CAD97994;CAF86961;CAG33536;EAW82695;EAW82696;NP_001188406;NP_060562;Q8NC67 Hs.645802 1649887;1675309;1675820;2160784;5092958 G32435;HSCZTF122;NIB1885;RH48278;RH67124 BTCL2;FLJ10430;FLJ14724;FLJ90456;NEOT2 OTTHUMP00000164133;brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2;neuropilin and tolloid-like protein 2 APPROVED protein-coding ENSG00000171208 14644 09721 607974 REVIEWED 736190 NEU2 sialidase 2 (cytosolic sialidase) This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008] 2 2 q37 233605626 233608011 + 233897382 233899767 + 1580863;6480464;6907045 8253770;17426694;15501818;15489334;14613940;12477932;10610726;10561456;10191093;12487819;8892864;15213228;19524683;20800603;23068092;22228546 4759 Q9Y3R4 ABBA01001998;AC106876;AMYH01011576;BC069151;BC107053;CH471063;NM_005383;Y16535 AAH69151;AAI07054;AAY24360;CAB41449;EAW71028;NP_005374;Q9Y3R4 Hs.532681 MGC129579;SIAL2 N-acetyl-alpha-neuraminidase 2;OTTHUMP00000164374;cytosolic sialidase;neuraminidase 2;sialidase-2 APPROVED protein-coding ENSG00000115488 7759 05702 605528 REVIEWED 2303667 NEURL1B neuralized homolog 1B (Drosophila) 5 5 5 q35.1 168100993 168151433 + 172026659 172051148 + 172068276 172118543 + 6480464 17003037;15372022;14702039;19723503 54492 A8MQ27 ABBA01044041;ABBA01044042;AC027309;AK026748;AK091605;AK096661;AK126311;AL137347;AMYH01015817;AMYH01015818;GQ414757;GQ414758;GQ414759;NM_001142651 A8MQ27;ACV53563;ACV53564;ACV53565;NP_001136123 Hs.91521 1643820;1649569;1740399;1740417;1853885 D5S1851;D5S2218E;D5S2229E;WI-13439;WI-14692 DKFZp761M1511;NEURL3;hNeur2;neur2 E3 ubiquitin-protein ligase NEURL1B;E3 ubiquitin-protein ligase NEURL3;OTTHUMP00000223474;OTTHUMP00000223482;OTTHUMP00000223483;neuralized 2 alternative protein;neuralized-2;neuralized-like protein 1B;neuralized-like protein 3 protein-coding ENSG00000214357 35422 VALIDATED 1347886 NEU3 sialidase 3 (membrane sialidase) This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008] 11 11 q13.5 74377598 74396391 + 74699950 74718743 + 1580863;6480464;6907045 16751776;12730204;10405317;18953356;18820643;18651674;18339327;18023981;17827720;17334392;17292733;17028199;16765317;16428383;16344560;16241905;15885103;15179041;15146197;14702039;12530538;12149448;12011038;10861246;12487819;8892864;20511247;20800603;12477932;19588508;19686243;20518744;23139422;22989879;21895867;21675735;22403397;21139048;21681193;21963094;22903576 10825 A8K327;B4E0V4;E9PI40;E9PMZ3;E9PNK1;E9PR25;Q9UQ49 AB008185;ABBA01017474;ABBA01017475;ABBA01017476;AK022450;AK290442;AK303540;AMYH01003813;AP001992;BC136397;BC144059;CH471076;CN429425;DB240271;DQ590342;NM_006656;Y18563 AAI36398;AAI44060;BAA82611;BAF83131;BAG51074;BAG64566;CAB96131;EAW74953;EAW74954;NP_006647;Q9UQ49 Hs.191074 1728553;1737249;1753365 D11S3116;G63715;SHGC-107164 FLJ12388;SIAL3 N-acetyl-alpha-neuraminidase 3;OTTHUMP00000230036;OTTHUMP00000230037;OTTHUMP00000230041;ganglioside sialidase;membrane sialidase;neuraminidase 3;sialidase-3 APPROVED protein-coding 7760 05215 604617 REVIEWED 735984 NEU1 sialidase 1 (lysosomal sialidase) The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008] 6 6 p21.3 31934931 31938662 - 31826829 31830709 - 1580863;6480464;6907045;7240710 8985184;16314420;19151752;18772331;18651674;18606142;17562335;17480010;17028199;16835219;16538002;16344560;16094384;15885103;15489334;15213228;15024131;14695530;14656967;14517945;12477932;12067718;11829139;11702224;11571282;11470272;11279074;11063730;10944856;10767332;9501080;9480870;9054950;9020182;8910459;8312369;3922758;3102233;12487819;8892864;16169070;19473359;19568825;19666471;19686243;19851445;21103358;21551251;22989879;22990118;21928149;21081666;21873432;18029348;22403397;22247545;21906983;23291686;10896669;21988832;22903576 4758 E9PIF4;E9PIJ4;Q5JQI0;Q99519 AB209011;ABBA01038091;AF040958;AF134726;AK290966;AK313006;AL662834;AL671762;AL844853;AMYH01016220;AY559729;AY559730;AY559731;BA000025;BC000722;BC011900;BT007206;BX005460;CA428930;CH471081;CR388202;CR456717;CR541916;CR759784;CR933877;CR936237;DB122914;NG_008201;NM_000434;U84246;X78687 AAB96774;AAD09239;AAD21814;AAH00722;AAH11900;AAP35870;AAT11275;AAT11276;AAT11277;ABM81642;ABM83112;ABM84822;ABM86306;BAB63297;BAD92248;BAF83655;BAG35842;CAA55356;CAG32998;CAG46714;EAX03536;EAX03537;NP_000425;Q99519 Hs.520037 1768266;2135663;2178031 D6S1197E;D6S1884;RH18309 FLJ93471;NANH;NEU;SIAL1 G9 sialidase;N-acetyl-alpha-neuraminidase 1;OTTHUMP00000029419;OTTHUMP00000233835;acetylneuraminyl hydrolase;exo-alpha-sialidase;lysosomal sialidase;neuraminidase 1;sialidase-1 APPROVED protein-coding ENSG00000204386 7758 09751 256550;608272 REVIEWED 1318506 NEU4 sialidase 4 The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009] 2 2 2 q37.3 236415462 236423972 + 242400746 242407407 + 242750160 242758739 + 1580863;6480464;6907045 22393058;14962670;16189514;15213228;18651674;15885103;15815621;15498874;15489334;14702039;14637003;12477932;22287118;19447967;19797320;21521691 129807 B3KR54;C9IZG9;C9J295;C9J2R4;C9J2V4;C9J5X2;C9JEA3;C9JRN9;F8WE58;Q8WWR8 ABBA01006067;AC114730;AF048727;AJ277883;AK025617;AK091038;AK096992;AK289421;AK290076;AK298403;AK300969;AMYH01011635;AY203952;BC012899;BC063465;BC067780;BC105974;BC117214;BQ651855;CH471063;NM_001167599;NM_001167600;NM_001167601;NM_001167602;NM_080741 AAH12899;AAI05975;AAI17215;AAP34475;AAX82022;ADR83030;BAF82110;BAF82765;BAG52266;BAH12778;BAH13385;CAC81904;EAW71294;EAW71295;EAW71296;EAW71297;NP_001161071;NP_001161072;NP_001161073;NP_001161074;NP_542779;Q8WWR8 Hs.551747 5019861 G54568 FLJ35928;MGC102757;MGC18222 N-acetyl-alpha-neuraminidase 4;OTTHUMP00000164607;OTTHUMP00000164608;OTTHUMP00000200025;OTTHUMP00000200026;OTTHUMP00000200028;OTTHUMP00000200029;OTTHUMP00000200033;OTTHUMP00000200034;neuraminidase 4;sialidase-4 APPROVED protein-coding ENSG00000204099 21328 12249 608527 REVIEWED 1605013 NEURL3 neuralized homolog 3 (Drosophila) pseudogene 2 2 2 q11.2 91604591 91615058 - 96527107 96534821 - 97163383 97173846 - 6480464 15936721;12477932;11181995 93082 Q96EH8 ABBA01036590;AC013270;AC021188;AK311953;AL389981;AMYH01010723;BC012317;CH471207;NR_026875 BAG34893;EAW71368;EAW71369;Q96EH8 Hs.149219 LINCR pseudo ENSG00000163121 25162 14296 PROVISIONAL 1352054 NEUROD5 neurogenic differentiation 5 63975 13803 1315966 NEURL neuralized homolog (Drosophila) 10 10 10 q25.1 98993672 99092247 + 105244038 105342293 + 105253735 105352309 + 1334462;1580863;2302390;6480464;6484113 14986688;12213446 9519875;15489334;15164054;12477932;12076535;11997106;11585928;20526338;16385451;19690564;20847082;18077452;19322201;23453885 9148 B4DS86;O76050 ABBA01063093;ABBA01063094;ABBA01063095;ABBA01063096;ABBA01063097;ABBA01063098;ABBA01063099;AF029729;AK299620;AL121929;AL139339;AMYH01003026;AMYH01003027;BC026336;CH471066;NM_004210;U87864 AAC17474;AAD01887;AAH26336;BAG61548;EAW49628;EAW49629;EAW49630;NP_004201;O76050 Hs.594708 1342127;1653178;1653180;1674226;1688098;1690846;1697566;1730984;1736146;1760021;1851229;2108309;2129885;2144458;2157264;2160378;2179454;2180667;7185378 A005K38;D10S1400E;D10S222;D10S299;G20290;NEURL_8906;RH102293;RH48899;RH68774;RH78889;RH92781;RH93063;SGC33314;SHGC-106571;SHGC-31369;SHGC-4169;SHGC-57337;STS-N31939 NEURL1;RNF67;bA416N2.1;neu;neu-1 OTTHUMP00000020414;RING finger protein 67;h-neuralized 1;neuralized-like (drosophila);neuralized-like protein 1A protein-coding ENSG00000107954 7761 04815 603804 VALIDATED 1315006 NEURL2 neuralized homolog 2 (Drosophila) This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] 20 20 20 q13.12 41228725 41231363 - 43950674 43953308 - 44517267 44519901 - 1334462;1580863;1598407;6480464 14986688 19472918;15489334;14960280;14702039;12477932;12076535;11780052;14992713 140825 H0YGA6;Q9BR09 ABBA01052670;AJ295985;AK054821;AL008726;AMYH01011939;AW298115;AW515245;BC074737;BC105935;BC107485;CH471077;HY058356;NG_008291;NG_033108;NM_001278535;NM_080749 AAH74737;AAI05936;AAI07486;BAB70810;CAC82498;EAW75790;NP_001265464;NP_542787;Q9BR09 Hs.517094;Hs.609336 1745931 G64282 C20orf163;MGC125934;MGC125935;OZZ;Ozz-E3 OTTHUMP00000031186;OTTHUMP00000237031;neuralized-like 2;neuralized-like 2 (drosophila);neuralized-like protein 2 protein-coding ENSG00000124257 16156 16353 608597 REVIEWED 1601733 NEURL4 neuralized homolog 4 (Drosophila) The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. [provided by RefSeq, Jul 2008] 17 17 17 p13 7244892 7258577 - 7159675 7173362 - 7218951 7232638 - 6480464 17353931;12477932;11347906;19615732;14702039;20360068;22645313;21139048;21890473;21906983;21963094;22261722;22441691;22505724 84461 I3L100;I3L2W2;I3L2Z9;Q96JN8 AB058690;ABBA01054860;AC026954;AL136870;AL833570;AMYH01008078;BC007227;BC073134;NM_001005408;NM_032442 AAH07227;AAH73134;BAB47416;CAB66804;NP_001005408;NP_115818;Q96JN8 Hs.654794 1652841;2182995 RH78284;STS-T79836 FLJ35680;KIAA1787 OTTHUMP00000163159;OTTHUMP00000163160;neuralized-like protein 4 APPROVED protein-coding ENSG00000215041 34410 13894 VALIDATED 1344395 NEUROD2 neuronal differentiation 2 This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008] 17 17 q12 35013547 35017701 - 37760021 37764175 - 1580863;6480464 17117180;8816493;19124506;19086053;16607387;15489334;14732494;12477932;11900979;11732772;11473083;10662545;10640683;10209266;9748526;9119405;20880594;21900206;22752091 4761 Q15784;Q5U0R0 AB021742;ABBA01031861;AC087491;AMYH01008375;AW134767;BC022481;BT019365;CH471152;NM_006160;U58681 AAC26058;AAH22481;AAV38172;BAA77569;EAW60579;NP_006151;Q15784 Hs.322431 1796404 NEUROD2_1374 MGC26304;NDRF;bHLHa1 OTTHUMP00000164277;class A basic helix-loop-helix protein 1;neuroD-related factor;neurogenic basic-helix-loop-helix protein;neurogenic differentiation 2;neurogenic differentiation factor 2 APPROVED protein-coding 7763 03429 601725 REVIEWED 1321332 NEUROD4 neuronal differentiation 4 12 12 12 q13.2 55065583 55075655 + 53699996 53710068 + 55413729 55423801 + 1580863;6480464 19086053;16344560;12477932;11078465;8889548;20379614 58158 Q8IW56;Q9HD90 ABBA01008378;AC027287;AF203901;AK314136;AMYH01004491;BC040961;BM683125;CH471054;DA417566;DA768001;NM_021191 AAF99097;AAH40961;BAG36826;EAW96803;NP_067014;Q9HD90 Hs.591024 1668254;1711408;2107433 G42188;NEUROD4_381.2;RH48632 ATH-3;ATH3;Atoh3;MATH-3;bHLHa4 OTTHUMP00000242228;class A basic helix-loop-helix protein 4;neurogenic differentiation 4;neurogenic differentiation factor 4;protein atonal homolog 3 APPROVED protein-coding ENSG00000123307 13802 14826 611635 VALIDATED 1343073 NEUROD6 neuronal differentiation 6 This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012] 7 7 7 p14.3 31365996 31369454 - 31343604 31347063 - 31377079 31380538 - 1580863;6480464 15036409;14702039;12690205;12477932;12357074;11748221;19733838;21906983 63974 Q96NK8 AACC02000087;ABBA01056821;AC006380;AF063609;AF136169;AF248954;AK055224;AK055238;AK289619;AMYH01017152;BC022560;BC035048;CH471073;NM_022728 AAG43167;AAH35048;AAO12759;AAP97259;ABZ92409;BAB70885;BAF82308;BAG51488;EAL24443;EAW93979;NP_073565;Q96NK8 Hs.45152 1790191;1852348;2108839;5094879 BF386980;NEUROD6;NEUROD6_223.2;RH78250 Atoh2;MATH2;Math-2;NEX1M;Nex1;bHLHa2 OTTHUMP00000123444;brain my051 protein;class A basic helix-loop-helix protein 2;neurogenic differentiation 6;neurogenic differentiation factor 6;protein atonal homolog 2 APPROVED protein-coding ENSG00000164600 13804 11387 611513 REVIEWED 731467 NEUROD1 neuronal differentiation 1 This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008] 2 2 q32 182249439 182253626 - 182540833 182545392 - 1625044;1601481;1580863;2313477;2313480;2313481;2313482;2313483;2313487;2313488;2313489;2313486;2313478;6480464;6907045;7240710 15979049;15277395;18811724;17440689;16909454;16773428;16357810;15047635;11719843;10545951;15592940;18331410 21800309;16344560;16321656;16321269;16055439;16026366;15993959;15815621;15708351;15665000;15650322;15489334;15247487;14759067;12951629;12890672;12881483;12861411;12639765;12482979;12477932;12476420;12200761;11900979;11788592;11755474;11575290;10757985;10636926;10507539;10366743;9714454;9703340;9343431;9144558;9039501;8915591;9308961;8786144;17941991;19307926;19228875;19086053;18587321;18519782;18339630;17985422;17327436;17217914;17192490;17126478;16936201;16873704;16870135;16569215;16024661;11591653;18029348;19353266;19619559;20120526;20416077;20692411;19913121;20573748;20628086;20682687;21084850;14752053;21278380;22455846;21349947;21697133;21988832;22558175;22761608;23553831 4760 Q9UEC8 AB009997;AB016079;AB018693;AB028145;AB593068;AB593069;AB593070;AB593071;ABBA01062289;AC013733;AF045152;AK313799;AL049266;AMYH01011315;BC009046;BM505034;BT019731;CH471058;D82347;DA486317;DB472071;DN949274;NG_011820;NM_002500;U36472;U50822;U80578 AAA79702;AAA93480;AAC51318;AAC83145;AAH09046;AAV38536;AAY24267;ABM82486;ABM85673;BAA11558;BAA36519;BAA76603;BAA87605;BAG36535;BAJ84015;BAJ84016;BAJ84017;BAJ84018;EAX10983;NP_002491;Q13562 Hs.574626;Hs.709709 1677278;1794550;1794928;1794930;1796402 NEUROD1_221;PMC317250P4;PMC85623P1;PMC85623P3;RH80773 BETA2;BHF-1;MODY6;NEUROD;bHLHa3 OTTHUMP00000163404;basic helix-loop-helix transcription factor;beta-cell E-box transactivator 2;class A basic helix-loop-helix protein 3;neurogenic differentiation 1;neurogenic differentiation factor 1;neurogenic helix-loop-helix protein NEUROD APPROVED protein-coding ENSG00000162992 7762 03428 125853;601724;606394 REVIEWED 7246569 NEXN-AS1 NEXN antisense RNA 1 6480464 14702039 374987 Q8NBZ9 ABBA01074393;AC138392;AK075118;AMYH01000722;CQ783163;NR_103535;XR_110470;XR_112069;XR_171171 BAC11413;CAF86369;Q8NBZ9 Hs.632414 2137463;5022578 D1S1423;DXS7775 C1orf118 miscrna ENSG00000235927 31983 13542 VALIDATED 1348793 NF1L3 neurofibromin 1-like 3 4766 7768 4107153 NF1P2 neurofibromin 1 pseudogene 2 15 q11.2 22133181 22145802 - 1505963;8264676;8825634 440225 ABBA01169613;AC060814;AC183089;AMYH01006353;AMYH01006354;AMYH01006355;AMYH01006356;AMYH01006357;M84131;NR_028506;X72619 Hs.722451 NF1HHS pseudo ENSG00000258997 38664 PROVISIONAL 1350437 NF1P1 neurofibromin 1 pseudogene 1 15 15 q11.2 19370631 19405675 - 21122012 21141048 - 8825634;8264676;1505963 100419006 AC037471;NG_025283;U35691 NF1HHS pseudo 7772 INFERRED 1344752 NF1P3 neurofibromin 1 pseudogene 3 21 21 21 q11.2 523699 528055 + 15373246 15377600 + 15373246 15377600 + 10830953;7926815;7686513 4764 AMYH01012137;AP001634;D26141;NG_009867;X76118 CAA53724 NF1L1 APPROVED pseudo 7766 INFERRED 1353614 NF1P5 neurofibromin 1 pseudogene 5 18 18 18 p11.21 14032493 14036842 - 14152996 14157343 - 14152996 14157343 - 16177791;8825634 4768 ABBA01074043;AC006557;AMYH01008854;AP001004;NG_007889;U35688;U35689 NF1L5 APPROVED pseudo 7770 INFERRED 1352814 NEUROG1 neurogenin 1 5 5 q23-q31 134897871 134899538 - 134869972 134871639 - 1580863;6480464 8816493;19086053;18799289;18053270;17044100;15489334;12526089;12477932;11732772;11239394;9119405;20102160;19813087;20211142;21326223;21697133;23034738;23419067 4762 F1T0H3;Q92886 AB593107;ABBA01068726;AC005738;AMYH01015628;BC008687;BC028226;BT019366;CH471062;FB571447;NM_006161;U63842 AAB37575;AAH08687;AAH28226;AAV38173;ABM82455;ABM85644;BAJ84047;CAR95141;EAW62214;NP_006152;Q92886 Hs.248149 1687397;1846893 RH65308;RH80843 AKA;Math4C;NEUROD3;bHLHa6;ngn1 NGN-1;OTTHUMP00000159409;class A basic helix-loop-helix protein 6;neurogenic basic-helix-loop-helix protein;neurogenic differentiation 3;neurogenic differentiation factor 3;neurogenin-1 protein-coding ENSG00000181965 7764 03430 601726 VALIDATED 2293600 NF1P7 neurofibromin 1 pseudogene 7 14 q11.1 20078032 20089290 + 100158257 AL512310;AL929601;NG_007892 NF1L7 APPROVED pseudo 34230 INFERRED 1352926 NF1P8 neurofibromin 1 pseudogene 8 2 2 2 q21.1 124621994 124631551 + 131651079 131668374 - 131946021 131955578 - 8825634 401007 ABBA01004563;AC009477;AC131180;AMYH01011086;NG_007888;U35697 1751129 SHGC-104985 NF1L2 APPROVED pseudo 7767 INFERRED 1344267 NF1P4 neurofibromin 1 pseudogene 4 14 14 q11.1 19489122 19495427 - 19484443 19495427 - 14702039;12508121;10591208;8825634 100419029 AL512624;CR383656;NG_007891;U35690 NF1L4;NF1L6 APPROVED pseudo 7769 INFERRED 1350949 NF1P6 neurofibromin 1 pseudogene 6 22 22 q11.1 14724504 14746783 + 16345913 16355362 + 14702039;12508121;10591208;8825634 644637 AMYH01012384;AP000531;AP000532;NG_007890;U35692 NF1L4;NF1L6 APPROVED pseudo 7771 INFERRED 1344822 NEUROG3 neurogenin 3 The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010] 10 10 q21.3 71001797 71003128 - 71331791 71333210 - 1580863;1642077;1601481;2313774;2313775;6480464;6907045;7240710 17239820;15277395;19819964;17146417 9000438;19336475;19307926;18461161;18210030;18093211;18072012;17922104;16873704;16855267;12477932;12403815;11270683;11246894;11206403;10677506;22606327;19538245;20807725;21099270;20668890;21378176;21739268;22266316;21814221;23349771 50674 Q9Y4Z2 ABBA01019609;AF234829;AJ133776;AK313952;AL450311;AMYH01002807;BC069098;BC074938;BC074939;BC117488;BC126468;CH471083;GQ904714;NG_021321;NM_020999 AAH69098;AAH74938;AAH74939;AAI17489;AAI26469;AAK15022;ABZ92401;ADM86144;ADR83510;BAG36669;CAB45384;EAW54328;NP_066279;Q9Y4Z2 Hs.532682 2218792;5492721;5493683;5494059 NEUROG3_4133;UniSTS:480863;UniSTS:482136;UniSTS:490304 Atoh5;Math4B;NGN-3;bHLHa7;ngn3 OTTHUMP00000019730;class A basic helix-loop-helix protein 7;neurogenin-3;protein atonal homolog 5 APPROVED protein-coding 13806 05346 604882;610370 REVIEWED 1319191 NEUROG2 neurogenin 2 This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012] 4 4 4 q25 110728735 110731391 - 113654121 113656777 - 113434672 113437328 - 1580863;6480464 18242186;17784840;15489334;12477932;11203697;9539123;8948587;19879328;20332099;16024661;21209909;11752450 63973 Q9H2A3 ABBA01063815;AC023886;AF303002;AMYH01014469;BC036847;CH471057;NM_024019 AAG40770;AAH36847;EAX06278;NP_076924;Q9H2A3 Hs.744415 Atoh4;MGC46562;Math4A;NGN2;bHLHa8;ngn-2 OTTHUMP00000163826;class A basic helix-loop-helix protein 8;neurogenin-2;protein atonal homolog 4 APPROVED protein-coding ENSG00000178403 13805 06976 606624 REVIEWED 1354261 NEXN nexilin (F actin binding protein) This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 1 1 1 p31.1 76593252 76648659 + 78126788 78182168 + 78354200 78409580 + 6480464;7240710 15823560;12601173;12477932;12053183;9832551;8227983;19913121;20628086;19881492;20379614;23398456;20970104;15840729;20360068;21139048;20301486;21145461;22381134;23000965 91624 B4DDI0;E7EQF0;E7ETM8;E7EUA0;H7BXY5;Q96DL0 AA249326;ABBA01074393;AC096948;AC138392;AF114264;AF176780;AK057954;AK127535;AK293201;AK298565;AK300728;AK307487;AMYH01000722;AMYH01000723;AY211912;BC017827;BC055084;BC111395;BC114444;BC114445;BQ009808;BX648546;CH471059;CR936630;DC412178;DQ464902;NG_016625;NM_001172309;NM_144573;S67069 AAB28815;AAD29607;AAH17827;AAH55084;AAI11396;AAI14445;AAI14446;AAO65165;AAQ13658;ABE97925;BAB71622;BAG56741;BAG60759;BAG62401;CAI56773;EAX06359;EAX06360;EAX06361;EAX06362;NP_001165780;NP_653174;Q0ZGT2 Hs.612385 1666491;1697968;2120727;2149783;2156305;2219988 D1S1832E;NEXN__6236;RH102513;RH64572;SHGC-75023;SHGC-75054 CMH20;MGC104234;MGC138865;MGC138866;NELIN F-actin-binding protein;OTTHUMP00000038336;OTTHUMP00000038337;OTTHUMP00000038338;OTTHUMP00000038339;nexilin APPROVED protein-coding ENSG00000162614 29557 11388 613121;613122;613876 REVIEWED 1348005 NFAM1 NFAT activating protein with ITAM motif 1 The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 26582650 26634673 - 41106357 41158345 - 42776413 42828401 - 737633;1580863;6480464 12477932 12615919;15143214;18295596;18031784;17079331;15489334;15461802;14702039;12693554 150372 F8WE95;Q8NET5 ABBA01055673;ABBA01055674;ABBA01055675;AK074094;AK097971;AL022316;AMYH01012814;AY121370;AY247409;BC038241;CH471095;CT841509;NM_145912 AAH38241;AAM83133;AAO91847;BAB84920;CAJ86439;CAK54645;CAK54944;EAW60504;EAW60505;NP_666017;Q8NET5 Hs.436677 1662968;5022578 D1S1423;D22S1270 CNAIP;FLJ40652;bK126B4.4 NFAT activation molecule 1;NFAT-activating protein with ITAM motif 1;OTTHUMP00000198711;calcinerin/NFAT-activating ITAM-containing protein;calcineurin/NFAT-activating ITAM-containing protein APPROVED protein-coding ENSG00000235568 29872 16380 608740 REVIEWED 737471 NF1 neurofibromin 1 This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2 26446121 26728821 + 29421945 29704695 + 1580932;1580933;1302540;1302542;1302541;1580863;1302577;1300048;6480464;6484113;6907045;7240710 16138909;2134734;10591653;10973261;11279521;12469121 20442305;20655465;1568247;1570015;11356864;17299016;16648142;17404841;1550670;19351817;19292874;19291764;19238080;19220708;19215943;19144660;19142971;19120036;19061981;19048115;19041782;18948576;18802710;18592002;18511569;18503770;18485440;18407053;18331998;18316778;18218617;18215124;18214791;18212816;18183042;18172006;18086893;18055911;18021924;17999360;17960768;17914445;17880527;17876295;17726231;17668375;17581973;17563086;17514731;17426081;17353900;17295913;17216419;17200120;17160901;17102080;17096025;17053831;16944272;16944271;16914719;16908010;16835897;16835260;16830335;16813595;16773574;16741618;16644864;16565220;16479075;16470740;16467218;16405917;16380919;16374483;16344560;16199547;16169856;16116616;16083285;16081245;16005615;15988004;15944227;15767669;15735964;15627836;15583390;15523642;15523626;15520408;15389774;15371411;15342556;15302935;15233998;15146469;15146197;15096131;14988005;14722914;14647436;13680360;13679444;12963615;12872266;12807981;12746402;12730209;12707950;12660952;12566521;12552569;12522551;12483293;12438263;12387455;12368469;12199909;12191989;12152785;12095621;12077339;12073021;11934389;11896613;11896214;11857752;11754043;11751683;11748857;11735023;11727265;11727199;11704931;11258625;11140831;10862698;10721668;10712197;10607834;10553997;10336779;10220149;9706718;9668168;9639526;9529361;9300663;9298829;9150739;9110174;9101300;9003501;9002664;8931693;8836031;8834249;8825634;8825042;8807336;8664912;8628317;8619474;8602361;8544190;8417346;8317503;8176268;8081387;8069310;7981724;7981679;7959746;7904209;7903661;7874161;7774960;7686513;7649559;7633452;7633431;7570581;7519874;2491776;2125369;2121370;2116237;2114220;1937470;1923522;1783401;1757093;1745350;1719426;1715669;1662505;1457041;1339276;1302608;1329097;2121371;21278392;20725927;20505189;20587590;21048031;20002172;20358387;10625171;12477932;19221814;19417008;19449407;19601812;19650418;19718661;19773259;19845691;19940123;20006588;20015894;20082856;20124472;20129251;20160012;20160346;20164853;20379614;20422842;20435627;20513137;20543202;20428205;20503322;20624961;20602485;18484666;18546366;20571392;19913121;20628086;20052761;20687928;20301288;21142935;21244408;15999204;20680410;21157378;21283084;21089070;21280148;20927530;21236316;21337692;21728811;23145129;23335975;21478499;22965642;23165953;23437333;17036045;22207399;22945628;21551249;21782795;21365283;21931722;22015770;22190464;22240541;22412049;21674567;22108604;22586326;22962301;23010473;21139048;21890473;21903422;22105171;21963094;23000965;23077663;22399775;22096509;22293200;21732117;22125493;22250039;22294457;22241097;22573716;22700876;22751498;22807134;23460398;22581253;23455922;23583712;22965773;23244495;23135915;23082153;21199919;22585738;22488919;22837079 4763 B4DXH1;B4DXP1;H0Y465;J3KRT8;J3KSB5;J3KSX8;J3QLS2;J3QQN8;J3QSG6;K7EID4;K7EJE7;K7ENT2;K7EP94;P21359 AB195812;AB195813;AB209336;ABBA01014961;ABBA01014962;ABBA01014963;ABBA01014964;ABBA01014965;ABBA01014966;ABBA01014967;ABBA01014968;AC004222;AC079915;AC134669;AC135724;AC138207;AC139072;AF055023;AF086346;AK024873;AK026658;AK289936;AK301970;AK302063;AMYH01008320;AMYH01008321;AY796305;BC144643;BP271334;BX391799;BX537850;CH471147;CN415204;D10490;D12625;D42072;DA299151;DB094344;M38106;M38107;M60496;M60915;M61213;M82814;M89914;NG_009018;NM_000267;NM_001042492;NM_001128147;S51751;U17084;U17656;U17659;U17662;U17668;U17673;U17677;U17690;X73654;Y07853 AAA56765;AAA59921;AAA59922;AAA59923;AAA59924;AAA59925;AAA59928;AAA74897;AAB24636;AAB48373;AAB48374;AAB48375;AAB48376;AAB48377;AAB48378;AAB48379;AAB48380;AAB59558;AAV50004;BAA01371;BAA02150;BAA07669;BAD92573;BAD98998;BAD98999;BAF82625;BAG63383;BAG63453;CAA52021;CAA69179;CAD97858;EAW80267;EAW80268;EAW80269;EAW80270;EAW80271;EAW80272;EAW80273;EAW80274;EAW80275;NP_000258;NP_001035957;NP_001121619;P21359 Hs.113577 1341251;1644289;1651711;1653633;1653810;1663175;1681101;1682688;1687662;1688644;1741257;1741271;1741383;1741415;1742593;1742767;1742929;1743125;1743449;1743603;1743605;1743607;1743691;1743693;1743695;1743697;1743699;1743701;1743703;1743789;1745337;1751129;1783584;1789288;1791490;1791492;1794572;1794788;1794790;1849798;1855580;2106551;2111936;2114104;2116543;2126697;2126833;2135033;2141429;2146723;2158103;2163483;2178824;2218770;2219990;5016560;5016566;5016592;5117060;5117128;5117747;5117749;5117751;5117753;5117755;5117757;5117759;5117773;5117775;5117777;5117779;5117781;5117783;5117785;5117787;5119715;5120560;5120690;5123440;5123911 D17S1166;D17S1307;D17S1972;D17S2051;D17S2103;D17S2162;EVI2A_3977;G67878;GDB:179892;GDB:180293;GDB:180500;GDB:180964;GDB:181190;GDB:197914;GDB:204171;GDB:215865;GDB:270136;GDB:335505;GDB:360314;GDB:360317;GDB:360321;GDB:360325;GDB:371087;GDB:371100;GDB:371103;GDB:371120;GDB:371125;GDB:371128;GDB:371132;GDB:371135;GDB:373693;GDB:424477;GDB:437890;GDB:599487;GDB:603640;GDB:603651;GDB:603666;GDB:603672;GDB:603686;GDB:603690;GDB:603694;GDB:603705;GDB:606211;GDB:606231;GDB:606236;GDB:606245;GDB:606264;GDB:606270;GDB:606279;GDB:606294;GDB:606297;GDB:627944;L18228;NF1;NF1__6237;OMG__6111;PMC111054P1;PMC111054P2;PMC321440P1;PMC55792P1;PMC55792P2;RH17711;RH17724;RH18392;RH68271;RH68548;RH76220;RH78102;RH91562;RH98908;SGC35675;SHGC-104985;SHGC-155452;SHGC-30113;SHGC-34851;SHGC-57602;STS-N38894;UniSTS:495849;WI-18876;WI-9201 DKFZp686J1293;FLJ21220;NFNS;VRNF;WSS OTTHUMP00000163771;OTTHUMP00000163772;OTTHUMP00000166089;neurofibromatosis 1;neurofibromatosis-related protein NF-1;neurofibromin;neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) APPROVED protein-coding ENSG00000196712 7765 01203 162200;162210;193520;601321;607785;613113 REVIEWED 1319318 NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q22.1 68156498 68296054 + 69599869 69738569 + 6480464;6907045 10377394;15790681;10051678;18606815;18411282;18367666;17440116;17173480;17148781;16782704;16644704;15840767;15173573;14702039;12538727;12482947;12477932;12421765;12379312;12359721;12080349;11936849;11877454;11792870;11780147;11528118;11485737;11233530;11072102;11060450;11046013;10733904;10565538;10048485;22071693;22619484;22497815;21289293;19913121;20628086;20677014;19138132;19750013;19886771;20041176;20080774;20237496;20351292;20585028;20685965;21037089;21102462;22266867;22992674;21209322;8401585;8889549;21717420;21757659;21982764;21418859;19471022;21693764;22496647;21749466;23263486;22190034;22768306 10725 F6X8W2;H3BP21;J3KRL6;J3QKS5;O94916;Q7LA65 AA291524;AA321843;AB020634;ABBA01025531;ABBA01025532;ABBA01025533;ABBA01025534;ABBA01025535;ABBA01025536;ABBA01025537;AC009032;AC012321;AF089824;AF134870;AF163836;AF346509;AJ005683;AJ005684;AJ243298;AJ243299;AK000312;AK001067;AMYH01007768;AMYH01007769;AMYH01007770;BC089395;BC131509;BC146765;BE737032;CH471092;NG_029600;NM_001113178;NM_006599;NM_138713;NM_138714;NM_173214;NM_173215;U80231;Z97016 AAD00352;AAD18136;AAD38360;AAD48441;AAI31510;AAI46766;AAK91166;BAA74850;CAB09693;CAC42764;CAC42765;EAW83277;EAW83278;EAW83279;EAW83280;EAW83281;NP_001106649;NP_006590;NP_619727;NP_619728;NP_775321;NP_775322;O94916 Hs.371987 1673235;1674537;1690230;1720011;1738967;1783336;1788940;2109555;2124206;2124208;2140072;2148595;2172676;2182899;5014051;5022322;5037552 D11S2560;D16S2916;D8S2278;D8S2279;HUM000S343;NFAT5_227;RH123983;RH47171;RH47172;SGC32667;SHGC-141495;SHGC-151;SHGC-17239;SHGC-32665;SHGC-60799;STS-W61007;UniSTS:224902 KIAA0827;NF-AT5;NFATL1;NFATZ;OREBP;TONEBP NFAT-like protein 1;OTTHUMP00000174893;OTTHUMP00000174894;T cell transcription factor NFAT5;T-cell transcription factor NFAT5;TonE-binding protein;glutamine rich protein H65;nuclear factor of activated T-cells 5;osmotic response element-binding protein;tonicity-responsive enhancer binding protein;tonicity-responsive enhancer-binding protein APPROVED protein-coding ENSG00000102908 7774 05272 604708 REVIEWED 1346235 NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013] 18 18 q23 75256760 75390311 + 77155772 77289323 + 1580863;6480464;6907045 18667424;18462673;18350607;18288635;18156209;18097033;17922653;17693409;17606988;17577925;17237284;17110989;17097050;17082665;16931157;16880514;16874304;16586042;16513293;16473827;16436503;16340127;16280328;16109714;15632146;15466861;15466412;18675896;15117818;12850144;12788643;12482669;12477932;12469121;12427739;12408978;12355451;12351631;12183075;12080349;12021260;11911478;11897999;11877454;11823475;15304486;15229217;10652349;10358178;10089876;10072078;9143705;9075924;8702849;14749367;9506523;10821850;8202141;19453261;19351910;19233265;19218564;19204004;18772129;18708588;15347678;9072970;7999066;7842733;16260021;7957556;8814265;16690925;16237100;11956293;11448168;11222731;10748182;10618429;9845362;15078178;12884293;12560487;19463978;21284733;20664054;12521306;1497875;14979875;19019468;19052845;19449179;19460777;19564342;19801542;19900447;19914243;20237496;20379146;20002873;21047202;21055286;19961855;20925194;19913121;20628086;17882263;22722879;21220349;21172821;21413932;21490927;18078995;20865272;21298033;21398617;21596928;19950017;21603612;15161933;21499900;21898543;22613791;22032245;22045870;22627363;21278340;22375008;22446626;17674968;22688515;15790681;22113269;22814600;23221330;23446734;18097055;18246125;20463068;22422068;22593154;22709542;22902539 4772 B5B2M5;B5B2M6;B5B2M7;B5B2M8;B5B2M9;F5H4S8;K7EQ04;K7ER53;O95644;Q2M1S3 AA621079;AA679278;ABBA01013887;ABBA01013888;ABBA01013889;ABBA01013890;AC018445;AC023090;AK292641;AK293760;AMYH01009128;AMYH01009129;AMYH01009130;AMYH01009131;AW014910;BC033848;BC045628;BC104753;BC112243;BC143457;BF515172;CH471117;EU887559;EU887560;EU887561;EU887562;EU887563;EU887564;EU887565;EU887566;HI574302;HI574304;HI574306;HI574308;HI574310;HY039825;NG_029226;NM_001278669;NM_001278670;NM_001278672;NM_001278673;NM_001278675;NM_006162;NM_172387;NM_172388;NM_172389;NM_172390;U08015;U59736;U80917;U80918;U80919 AAA19601;AAC50869;AAD00450;AAD00451;AAD00452;AAI04754;AAI12244;ACG55579;ACG55580;ACG55581;ACG55582;ACG55583;ACG55584;ACG55585;ACG55586;BAF85330;BAG57179;CBX47640;CBX47641;CBX47642;CBX47643;CBX47644;EAW66617;EAW66618;EAW66619;EAW66620;EAW66621;EAW66622;NP_001265598;NP_001265599;NP_001265601;NP_001265602;NP_001265604;NP_006153;NP_765975;NP_765976;NP_765977;NP_765978;O95644 Hs.534074;Hs.701518 1337075;1684560;1744737;1754027;1853496;2131856;2132163;2219992 D18S1095;D18S1221;GDB:555590;NFATC1_4134;RH91458;SHGC-132069;STS-T92423;STS-U08015 MGC138448;NF-ATC;NFAT2;NFATc NF-ATc1;NFAT transcription complex cytosolic component;OTTHUMP00000163811;OTTHUMP00000163812;OTTHUMP00000163813;nuclear factor of activated T-cells, cytoplasmic 1 APPROVED protein-coding ENSG00000131196 7775 02729 600489 REVIEWED 1349771 NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 16 16 16 p11.2 27917598 27932949 + 28869819 28885287 + 28962318 28977786 + 737633;1580863;6480464 12477932 17081983;16964243;15489334;14702039;8943202;15698469;20410506;14559993;19471022;21890473;21906983;10878360;11435475 84901 H3BSZ7;Q8NCF5 ABBA01045680;ABBA01045681;ABBA01045682;AC109460;AF458593;AK027545;AK074761;AK094764;AK297333;AK304172;AK304606;AK316535;AL043335;AMYH01007480;BC010161;BC018311;BC021551;BC068007;BC080628;BC101741;BC112182;CH471267;CQ783653;NM_032815 AAH18311;AAH21551;AAH68007;AAH80628;AAI01742;AAI12183;AAM49721;BAB55189;BAC11189;BAH12551;BAH14125;BAH14223;BAH14906;CAF86795;EAW52014;EAW52015;NP_116204;Q8NCF5 Hs.513470 1675955;1683000;1683042;1683231;1716669;2161762;5022651;5037552 D11S2921;D8S2279;RH121593;RH48709;RH64927;RH64961;RH69718;STS-T99324 ESC2;FLJ14639;MGC126790;MGC138387;NIP45;RAD60 45 kDa NF-AT-interacting protein;45 kDa NFAT-interacting protein;NFATC2-interacting protein;OTTHUMP00000123395;nuclear factor of activated T-cells, cytoplasmic 2-interacting protein protein-coding ENSG00000176953 25906 10971 614525 VALIDATED 733496 NFASC neurofascin This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009] 1 1 q32.1 203064446 203258572 + 204797782 204991950 + 6480464 17474147;17846150;17405145;16710414;16061393;15491607;15489334;15479642;14702039;12477932;12223548;12168954;11719549;9872452;9572267;9371782;9110174;8947556;8893017;8672144;8619474;1377696;11152476;11470829;11724816;11839274;9804856;20588308;8922386;16652168;19666467;20129933;20371806;20379614;9722619;21047790;22306302;22009740;21139048;22462667;22492029;23064961;22913984 23114 B4DRH7;D6RBU5;D6RHX4;F8W791;F8W792;F8W8X7;F8W9B6;F8WAT1;H7BY57;H7C073;H7C0L6;J3QSX2;Q5T2G0 AA514945;AB018299;AB177861;ABBA01027435;ABBA01027436;ABBA01027437;ABBA01027438;AC096675;AF054995;AK027553;AK090639;AK097802;AK127424;AK128699;AK172728;AK295291;AK299262;AK308686;AL391822;AMYH01001665;AMYH01001666;AMYH01001667;BC008124;BC033367;BC035389;BC040674;BC117674;BC137013;BC144454;BC144455;BG702675;BX537841;BX641047;BX641048;CR749402;NG_029938;NM_001005388;NM_001005389;NM_001160331;NM_001160332;NM_001160333;NM_015090 AAH08124;AAI17675;AAI37014;AAI44455;BAA34476;BAB55195;BAC87577;BAD66839;BAG52203;BAG53530;BAG58275;BAG61289;CAD97852;CAH18247;NP_001005388;NP_001005389;NP_001153803;NP_001153804;NP_001153805;NP_055905;O94856 Hs.13349 1338448;1676598;1686887;1704464;1707556;1730099;1770214;2128752;2138391;2139806;2151058;2173059;2177202;2184675;5015961;5037552;5106293 AFM217xc7;D15S1477;D1S256;D1S2872;D8S2279;RH93142;RH99097;SHGC-30620;SHGC-76179;SHGC-76204;SHGC-76205;SHGC-76206;SHGC-76212;SHGC-76215;SHGC-82976;SHGC-84589;WI-20686 DKFZp686P2250;FLJ46866;KIAA0756;NF;NRCAML OTTHUMP00000065316;OTTHUMP00000065317;OTTHUMP00000065319;OTTHUMP00000065322;OTTHUMP00000065323;OTTHUMP00000065324;OTTHUMP00000217079;neurofascin;neurofascin homolog APPROVED protein-coding ENSG00000163531 29866 12372 609145 REVIEWED 1317023 NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012] 20 20 q13.2 49441172 49592665 - 50003494 50179370 - 1579951;1580863;1627651;6480464;6484113;6907045 15336966;17596340 16873067;15790681;8668213;19458075;19318584;19286996;19192391;18973208;18962896;18931684;18710929;18676376;18641302;18246125;18218901;18097033;17882263;17785820;17711847;17588603;17584983;17463169;17398070;17237447;16888000;16849457;16690925;16505480;16497967;16473827;16455648;15897878;15857835;15668245;15632146;15471864;15347678;15292278;15271374;15184502;15144186;15121840;15117942;14657699;12949493;12788643;12594826;12560487;12482669;12477932;12453415;12093869;12021260;11982754;11956291;11932239;11911478;11877454;11780052;11438213;11356192;11231878;11030334;10944115;10821850;10737800;10611249;10207088;10089876;9660947;9625762;9510247;9498773;9143705;9111316;8943202;8889548;8834464;8397339;8202141;7999066;7887301;7842733;7757816;7650486;16260021;7957556;8814265;9845362;16169070;17082665;17237388;20609354;18029348;18675896;19318479;19564342;19833725;19843528;19900447;20097868;20219685;20237496;20379146;20379614;20368097;19505873;17875758;20557936;20367554;21047202;20448330;20834230;19913121;20628086;20677014;20093726;19060202;21282105;21325277;22986745;23060442;21628454;22718120;22911897;21576369;21278340;21799768;12656674;21803625;22116621;22079596;22699055;22333584;21964595;22045870;22627363;22363514;22446626;21983832;22767506;22787160;18097055;20139419;21176845;22077140;22422068;22593154 4773 B5B2P0;B5B2P2;B5B2P3;B5B2P4;Q9UJR2 ABBA01052794;ABBA01052795;ABBA01052796;ABBA01052797;ABBA01052798;ABBA01052799;ABBA01052800;ABBA01052801;ABBA01052802;ABBA01052803;AF484568;AK025758;AK226146;AK304147;AL035682;AL035684;AL132866;AMYH01011980;AMYH01011981;AMYH01011982;AMYH01011983;BC136418;BC144074;BE674599;BF914609;BM463165;BU429325;CD300621;CF136470;CH471077;CR993438;EU887573;EU887574;EU887575;EU887576;EU887577;EU887578;EU887579;EU887580;NM_001136021;NM_001258292;NM_001258294;NM_001258295;NM_001258296;NM_001258297;NM_012340;NM_173091;U43341;U43342;Z36756 AAC50886;AAC50887;AAI36419;AAI44075;ACG55593;ACG55594;ACG55595;ACG55596;ACG55597;ACG55598;ACG55599;ACG55600;BAH14117;EAW75602;EAW75603;NP_001129493;NP_001245221;NP_001245223;NP_001245224;NP_001245225;NP_001245226;NP_036472;NP_775114;Q13469 Hs.744148 1334800;1647844;1666744;1687908;1691682;1709278;1744739;1756865;2134700 AL032542;D20S128E;D20S857;GDB:555597;RH36387;RH38986;SHGC-144024;SHGC-85834;STS-M78243 NFAT1;NFATP NF-ATc2;NFAT pre-existing subunit;NFAT transcription complex, preexisting component;OTTHUMP00000031291;OTTHUMP00000031292;T cell transcription factor NFAT1;T-cell transcription factor NFAT1;nuclear factor of activated T-cells, cytoplasmic 2;nuclear factor of activated T-cells, preexisting component;preexisting nuclear factor of activated T-cells 2 APPROVED protein-coding ENSG00000101096 7776 02730 600490 REVIEWED 731858 NF2 neurofibromin 2 (merlin) This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] 22 22 q12.2 28329565 28424587 + 29999545 30094589 + 1624321;1580863;2315000;2315002;6480464;7240710 16398473;19487675;16468657 17353411;9537418;17210637;12444102;8379998;10861283;10401006;19351817;19328320;16537381;16532029;16497727;16007223;15980114;15824172;15797715;15743831;15699051;15635074;15609345;15598747;15580288;15541357;15489334;15467741;15461802;15378014;15190457;15146197;15123692;14981079;14724586;14702039;14612918;14580336;14566860;13679444;12896975;12695331;12684666;19144871;19142715;19029950;18953429;18923024;18835652;18822692;18808065;18766994;18725387;18670066;18632626;18445079;18361411;18332868;18285426;18173316;18072270;18071304;18033041;17989580;17868749;17655741;17566081;17509660;17478763;17470137;17222329;17081983;16885985;16824698;16786152;16652148;16612978;12665675;12478663;12477932;12471027;12444101;12356905;12226091;12217955;12191989;12118253;11856822;11839955;11836375;11827459;11719502;11535133;11432873;11380622;11285248;10669747;10591208;10220142;10090912;10036239;9817927;9748471;9486775;9430655;9399891;9330869;8889548;8791482;8757035;8655144;8566958;8453669;8230593;8162073;8162072;8081368;8069299;8069298;8012353;8004107;7951231;7913580;7868131;7798645;7666400;7485397;1456285;16282498;17891137;12446789;10675333;9703963;7981675;20890305;21278391;11256614;17509819;18029348;19451225;19451229;19615732;19687056;19778867;19924781;19968670;20009918;20054297;20178741;20379614;20195187;20682713;20553997;19141242;20831745;20445339;20301380;20930055;21167305;21154335;17007372;20491622;20600642;21383154;21563229;21481793;23249734;20937768;21182951;22247700;21750658;21233212;21965655;22081132;22295085;22355270;21139048;21890473;21906983;21971708;22012890;22525268;22912849;23455610;22281088;22431917;22249120;22414063;21743150;23308224;23455924;23000965;23036697;23413263;22325036;22939629;22053931;22797925;22911524 4771 B7Z4B6;Q96T33 ABBA01055271;ABBA01055272;ABBA01055273;ABBA01055274;AC004882;AC005529;AF113694;AF122827;AF122828;AF123570;AF165426;AF369657;AF369658;AF369659;AF369660;AF369661;AF369662;AF369663;AF369664;AF369665;AF369666;AF369667;AF369668;AF369700;AF369701;AF369702;AF369703;AK092306;AK092515;AK297116;AMYH01012698;AMYH01012699;BC003112;BC007279;BC007336;BC010060;BC020257;BC071653;CF138178;CH471095;CN419318;CR456530;EF517524;L11353;L27065;L27066;L28839;NG_009057;NM_000268;NM_016418;NM_181825;NM_181828;NM_181829;NM_181830;NM_181831;NM_181832;NM_181833;S73853;S73854;S73856;X72655;X72670;Y18000;Z22664 AAA36212;AAA62422;AAB31736;AAB31737;AAB31738;AAD48752;AAD48753;AAD48754;AAF29587;AAF80764;AAH03112;AAH20257;AAK54160;AAK54161;AAK54162;AAK54163;AAK54164;AAK54165;AAK54166;AAK54195;AAK54196;ABM82623;ABM85804;ABP73252;BAH12502;CAA51220;CAA76992;CAA76993;CAA80377;CAG30416;CAK54561;CAK54860;EAW59814;EAW59815;EAW59816;EAW59817;EAW59818;EAW59819;EAW59820;EAW59821;EAW59822;EAW59823;EAW59824;EAW59825;EAW59826;EAW59827;EAW59828;EAW59829;EAW59830;EAW59831;EAW59832;EAW59833;NP_000259;NP_057502;NP_861546;NP_861966;NP_861967;NP_861968;NP_861969;NP_861970;NP_861971;P35240 Hs.187898 1678875;1700666;1729061;1734136;1743507;1743779;1743781;1743787;1772798;1850863;2117172;2174924;5015867;5015905;5015907;5015909;5022578;5022651;5037552;5109281;5120594;5120596;5120598;5120600;5120602;5120726;5120728;5120730;5120732;5120734;5120736;5120738;5120742;5120744;5120746;5120748;5120750;5120752;5120754;5120756 A007D33;D11S2921;D1S1423;D1S1425;D22S929;D8S2279;GDB:312714;GDB:342145;GDB:361675;GDB:361678;GDB:361681;GDB:361684;GDB:361687;GDB:373334;GDB:373359;GDB:373365;GDB:373372;GDB:373379;GDB:373387;GDB:373398;GDB:373405;GDB:373416;GDB:373421;GDB:373633;GDB:373637;GDB:373641;GDB:373645;GDB:373650;GDB:373653;GDB:373656;GDB:373660;GDB:373663;GDB:373673;GDB:373677;Nf2;RH103956;RH27831;SHGC-30811;STS-L11353;WI-12398 ACN;BANF;SCH OTTHUMP00000028855;OTTHUMP00000199606;OTTHUMP00000199607;OTTHUMP00000199608;OTTHUMP00000199609;OTTHUMP00000199610;OTTHUMP00000199611;OTTHUMP00000199621;OTTHUMP00000199622;merlin;moesin-ezrin-radixin like;moesin-ezrin-radixin-like protein;moesin-ezrin-radizin-like protein;neurofibromatosis 2;neurofibromin 2 (bilateral acoustic neuroma);neurofibromin-2;schwannomerlin;schwannomin APPROVED protein-coding ENSG00000186575 7773 06980 101000;162091;607174;607379 REVIEWED 4144486 NFE2L3P1 nuclear factor (erythroid-derived 2)-like 3 pseudogene 1 18 18 18 q21.32 54353098 54357197 + 55770448 55790956 + 57635040 57639139 + 642996 ABBA01056175;AC090377;AMYH01009040;NG_011711 pseudo 22278 INFERRED 1321836 NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family of nuclear factors of activated T cells also participate in the formation of this complex. The product of this gene plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of the IL-2 and IL-4. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Oct 2008] 14 14 q11.2 23907094 23918650 + 24836145 24848810 + 1580248;1580863;1579951;6480464;6907045 12939651;15336966 17044076;7749981;18675896;18668201;18034994;17875713;17213202;17194453;17081983;16645724;16489119;16344560;16219765;12788643;12787506;12482669;12477932;11997522;11877454;11514544;11439183;10611249;10089876;9660947;9568714;9143705;7999066;16260021;7957556;8814265;16690925;20385772;18029348;21047202;19653005;19784808;20101218;20237496;19913121;20628086;21081043;22977251;21606195;22234350;22378890;22164265;20881960;18097055;22593154 4776 B5B2W9;G3V4K1;G3V4U6;G3V5H0 ABBA01061342;ABBA01061343;AK293185;AK293873;AK300450;AK302271;AK309339;AK310433;AK310445;AK311078;AK311425;AL096870;AMYH01005611;BC008857;BC037735;BC053855;CH471078;DB372155;DC318153;EU887632;EU887633;EU887634;EU887635;EU887636;EU887637;EU887638;EU887639;EU887640;EU887641;EU887642;EU887643;EU887644;EU887645;EU887646;EU887647;EU887648;EU887649;EU887650;EU887651;EU887652;EU887653;EU887654;EU887655;L41066;NM_001136022;NM_001198965;NM_001198966;NM_001198967;NM_004554 AAA79175;AAH08857;AAH53855;ABZ92167;ACG55652;ACG55653;ACG55654;ACG55655;ACG55656;ACG55657;ACG55658;ACG55659;ACG55660;ACG55661;ACG55662;ACG55663;ACG55664;ACG55665;ACG55666;ACG55667;ACG55668;ACG55669;ACG55670;ACG55671;ACG55672;ACG55673;ACG55674;ACG55675;BAG56726;BAG57262;BAG62171;BAG63617;EAW66020;NP_001129494;NP_001185894;NP_001185895;NP_001185896;NP_004545;Q14934 Hs.77810 1665568;1777341;1796406 NFATC4_1481;SHGC-57765;WI-11710 NF-ATc4;NFAT3 NF-AT3;OTTHUMP00000164787;OTTHUMP00000246434;OTTHUMP00000246435;OTTHUMP00000246436;OTTHUMP00000246437;OTTHUMP00000246438;OTTHUMP00000246439;OTTHUMP00000246440;OTTHUMP00000246441;OTTHUMP00000246442;OTTHUMP00000246443;OTTHUMP00000246444;OTTHUMP00000246445;OTTHUMP00000246446;OTTHUMP00000246447;OTTHUMP00000246448;OTTHUMP00000246449;OTTHUMP00000246450;OTTHUMP00000246451;OTTHUMP00000246452;T cell transcription factor NFAT3;T-cell transcription factor NFAT3;nuclear factor of activated T-cells, cytoplasmic 4 APPROVED protein-coding ENSG00000100968 7778 09096 602699 REVIEWED 6768636 NFE2L3P2 nuclear factor (erythroid-derived 2)-like 3 pseudogene 2 17 q21.32 45500843 45504058 + 15146197;16344560 100272146 ABBA01041120;AC040934;AMYH01008447;NG_029197 pseudo 44191 INFERRED 1318613 NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010] 16 16 q22.2 66676876 66818338 + 68119269 68263162 + 1581961;1579951;1579956;6480464;6907045 15016802;15336966;9568714 7739550;7749981;18815128;18676376;18675896;17035332;16445977;16260608;15489334;15173172;14702039;12788643;12671993;12482669;12477932;12417987;11997392;11877454;10493829;10089876;9759864;9660947;9630228;9498773;9374467;9143705;9121455;7999066;16260021;7957556;8814265;16690925;20237496;18029348;21047202;19913121;20628086;22977251;21642596;22318606;22846573;16051665;22749879;23219532;17875713;22094256;23455922;18097055;22593154 4775 B5B2S0;B5B2S1;F8VPH9;H3BR83;H3BRM3;H3BRS1;H3BU30;I3L3K7;Q12968 AB209824;ABBA01025477;ABBA01025478;ABBA01025479;ABBA01025480;ABBA01025481;AC020978;AC130462;AK057574;AK290370;AMYH01007755;AMYH01007756;BC001050;BE350846;BU849493;CA418693;CH471092;EU887605;EU887606;EU887607;EU887608;EU887609;EU887610;EU887611;EU887612;EU887613;EU887614;EU887615;EU887616;EU887617;EU887618;EU887619;EU887620;EU887621;EU887622;EU887623;EU887624;EU887625;L41067;NG_029147;NM_004555;NM_173163;NM_173165;U14510;U85428;U85429;U85430 AAA79174;AAA86308;AAB46595;AAB46596;AAB46597;AAH01050;ABM86310;ACG55625;ACG55626;ACG55627;ACG55628;ACG55629;ACG55630;ACG55631;ACG55632;ACG55633;ACG55634;ACG55635;ACG55636;ACG55637;ACG55638;ACG55639;ACG55640;ACG55641;ACG55642;ACG55643;ACG55644;ACG55645;BAD93061;BAF83059;EAW83210;EAW83211;EAW83212;EAW83213;NP_004546;NP_775186;NP_775188;Q12968 Hs.436585 1648821;1668942;1676031;1682583;1738965;1767281;1769692;1771207;1778516;2149553;2171941;2171943;2187046;5016781;5017227 A002B46;D16S2915;G19908;G38154;RH16192;RH17654;RH64885;RH78919;RH79943;SGC32906;SHGC-35392;SHGC-58359;SHGC-60580;SHGC-60786;SHGC-67307 NFAT4;NFATX NF-AT4;NF-ATc3;OTTHUMP00000174860;OTTHUMP00000174861;OTTHUMP00000174862;T cell transcription factor NFAT4;T-cell transcription factor NFAT4;nuclear factor of activated T-cells c3 isoform IE-Xa;nuclear factor of activated T-cells, cytoplasmic 3 APPROVED protein-coding ENSG00000072736 7777 04077 602698 REVIEWED 1315759 NFE2 nuclear factor (erythroid-derived 2), 45kDa 12 12 q13 52972162 52975811 - 54685891 54694821 - 1580863;6480464 9305852;11863372;8355703;7774011;18029348;18718448;16763211;16287851;15489334;14966463;12805554;12509425;12490281;12477932;12196550;11154691;9753456;9166829;9150357;8248255;8107826;7724591;1569944;20854373;16169070;19820697;19901266;19966288;20236933;20211142;8816476;20339092;21232177;15572685;23589569;2366175;21609963;22855609;22968456;22174410;22231305;19416867;11318614;20467438;21988832;22139419;23341442 4778 A8K3E0;F8W1N9;Q16621 ABBA01008369;AC078778;AK290555;AK290564;AK313207;AMYH01004488;BC005044;BE243330;BT007288;BX406317;CH471054;CR450284;DQ367844;GD141614;JA885112;L13974;L24122;NM_001136023;NM_001261461;NM_006163;S77763 AAA16118;AAA35612;AAB34115;AAH05044;AAP35952;ABC79302;ABM84363;ABM87795;ABW03868;BAF83244;BAF83253;BAG36023;CAG29280;CCQ77681;EAW96771;EAW96772;EAW96773;NP_001129495;NP_001248390;NP_006154;Q16621 Hs.75643 1771919;2107435;2126490 NFE2_7837;RH44735;WI-7866 NF-E2;p45 OTTHUMP00000242012;OTTHUMP00000242013;OTTHUMP00000242015;leucine zipper protein NF-E2;nuclear factor, erythroid-derived 2 45 kDa subunit;p45 NF-E2;transcription factor NF-E2 45 kDa subunit protein-coding ENSG00000123405 7780 09030 601490 VALIDATED 1323705 NFE2L1 nuclear factor (erythroid-derived 2)-like 1 This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008] 17 17 q21.3 43480745 43493841 + 46125686 46138907 + 1580863;6480464 11025215;9826775;8248256;9501099;17609210;16806233;16344560;15489334;12805554;12729924;12477932;12358155;9872330;9421508;9150357;8932385;8889548;8036168;8001966;7557987;21536885;20237496;20932482;20385086;20211142;20935630;21139048;21262351;21693764;21890473;21906983;21953459;22216197;22971132;16687406;21963094;21988832;22949513;23000965;23623971 4779 B4DYE1;F5H1B7;J3KRF3;J3KSE0;J3KSR3;J3KTG6;J3QKY3;J3QLQ1;J3QQH8;J3QQQ1;J3QQY8;J3QR31;J3QRG7;J9JIE5;Q14494;Q8NF22 ABBA01041152;AC004477;AK090459;AK294553;AK302387;AL833530;AMYH01008451;BC010623;BC131769;BM983473;BX647976;CH471109;DA230932;DB097304;L24123;NM_003204;U08853;X77366;X84060;X84061;X84062;X84063;X84064;X84065;X84066 AAA20466;AAH10623;AAI31770;ABM84234;ABM85170;BAC03440;BAG57756;BAG63703;CAA54555;EAW94762;EAW94763;EAW94764;EAW94765;EAW94766;EAW94767;NP_003195;Q14494 Hs.514284 5117166 GDB:451565 FLJ00380;LCR-F1;NRF1;TCF11 NF-E2-related factor 1;NFE2-related factor 1;TCF-11;locus control region-factor 1;nuclear factor erythroid 2-related factor 1;nuclear factor, erythroid derived 2, like 1;transcription factor 11 (basic leucine zipper type);transcription factor HBZ17;transcription factor LCR-F1 APPROVED protein-coding ENSG00000082641 7781 01223 163260 VALIDATED 1317092 NFE2L3 nuclear factor (erythroid-derived 2)-like 3 This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009] 7 7 7 p15.2 26180718 26215742 + 26158385 26192432 + 26191847 26226757 + 1580863;6480464 10037736;19047052;17976382;15489334;15388789;15385560;12853948;12477932;11286316;9847074;19913121;20628086;20237496;20379614;20935629;21906983;23251661 9603 Q9Y4A8 AA603252;AACC02000007;AB010812;ABBA01056745;AC004520;AF125534;AF133059;AF134891;AF135116;AMYH01017125;AMYH01017126;BC008645;BC015336;BC035762;BC049219;BC056142;BC068455;BX396198;CH236948;CH471073;NM_004289 AAF17228;AAF61404;AAF61415;AAG43275;AAH15336;AAH49219;AAH56142;AAH68455;AAP22344;BAA76288;EAL24236;EAW93833;NP_004280;Q9Y4A8 Hs.404741;Hs.712898 1675565;1711480;1739099;5113214 D7S2259;G49241;RH70778;RH76062 NRF3 NF-E2-related factor 3;NFE2-related factor 3;OTTHUMP00000122492;nuclear factor erythroid 2-related factor 3;nuclear factor, erythroid derived 2, like 3;nuclear factor-erythroid 2 p45-related factor 3;nuclear factor-erythroid 2-related factor 3 APPROVED protein-coding ENSG00000050344 7783 09162 604135 REVIEWED 1345604 NFIL3 nuclear factor, interleukin 3 regulated Expression of interleukin-3 (IL3; MIM 147740) is restricted to activated T cells, natural killer (NK) cells, and mast cell lines. Transcription initiation depends on the activating capacity of specific protein factors, such as NFIL3, that bind to regulatory regions of the gene, usually upstream of the transcription start site (Zhang et al., 1995 [PubMed 7565758]).[supplied by OMIM, Feb 2009] 9 9 q22 93211148 93225965 - 94171327 94186144 - 1580863;6480464 1620116;7565758;19129193;19058789;18937294;18829486;16630563;12743120;12477932;10942106;9122243;8836190;8076819;20186462;12805554;18029348;19693801;19839995;20174623;20379614;17207965;21693764;21906983;19471022;21282530;23283977;22947103;23128233;23630076 4783 Q16649 ABBA01012853;ABBA01012854;AK313970;AL353764;AMYH01021504;AW163045;BC008197;BQ937243;CH471089;CR542049;EF028070;HM204564;NM_005384;S79880;U26173;X64318 AAA93067;AAB35410;AAH08197;ABK15691;ABM82031;ADK11690;ADQ31769;BAG36685;CAA45597;CAG46846;EAW62796;EAW62797;NP_005375;Q16649 Hs.79334 1658642;1659471 SGC31636;STS-X64318 E4BP4;IL3BP1;NF-IL3A;NFIL3A E4 promoter-binding protein 4;OTTHUMP00000021633;interleukin-3 promoter transcriptional activator;interleukin-3-binding protein 1;nuclear factor interleukin 3 regulated protein;nuclear factor interleukin-3-regulated protein;transcriptional activator NF-IL3A APPROVED protein-coding ENSG00000165030 7787 05619 605327 VALIDATED 69144 NFIA nuclear factor I/A This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 1 1 p31.3-p31.2 61320881 61694624 + 61542946 61928460 + 1580863;6480464;6484113 7590749;15684392;17530927;17081983;17010934;16710414;16325577;15598822;15466411;15458926;14702039;12477932;12107410;10718198;10518556;10085123;15302935;15146197;19505873;22807310;18029348;19540848;19542302;20190752;20379614;21076409;19913121;20628086;21738484;22939629;21829377;19322201;22925353;23408906;23463857 4774 B1AKN5;B1AKN6;B1AKN7;B1AKN8;Q12857 AA974652;AB037860;ABBA01074628;ABBA01074629;ABBA01074630;ABBA01074631;ABBA01074632;ABBA01074633;ABBA01074634;ABBA01074635;ABBA01074636;AC092784;AC096534;AC096947;AF086381;AI799785;AK024964;AK096483;AK299289;AK299356;AK299579;AL096888;AL133665;AL445198;AL445432;AMYH01000664;AW014151;BC022264;BX537823;CA398137;CA411638;CH471059;CN372139;DB544485;NG_011787;NM_001134673;NM_001145511;NM_001145512;NM_005595;U07809 AAA93124;AAH22264;ABM84176;ABM87578;BAA92677;BAG61305;BAG61351;BAG61515;CAH56387;EAX06601;EAX06602;EAX06603;EAX06604;NP_001128145;NP_001138983;NP_001138984;NP_005586;Q12857 Hs.740757;Hs.744898 1335024;1335619;1339522;1342198;1645832;1647023;1647654;1652683;1665542;1673106;1675712;1676856;1683233;1687822;1692436;1693176;1696346;1698754;1704778;1705016;1713171;1716299;1734572;1759093;1765299;1767977;1768752;1773691;1774889;1775440;1781852;1847277;1850437;2118600;2127257;2129173;2138366;2150688;2161360;2162493;2166621;2168208;2171083;2172636;2173365;2185654;2219994 AL009354;AL009378;AL009559;AL009964;AL033583;AL033867;B346ZB5;D18S934E;D1S2452;D1S2788;D1S2822;D1S2846;D1S3419;D1S3502;D1S473;G35307;HSC24E062;NFIA__6239;RH102940;RH120372;RH121179;RH16390;RH35947;RH44635;RH80050;RH80440;RH92747;SHGC-148794;SHGC-150582;SHGC-1565;SHGC-17235;SHGC-34001;SHGC-34690;SHGC-57907;SHGC-74813;SHGC-74896;SHGC-74903;SHGC-74919;SHGC-74920;SHGC-74922;SHGC-74925;SHGC-74932;SHGC-77778;SHGC-78024;SHGC-79855;SHGC-84024;WI-14257 CTF;DKFZp434L0422;DKFZp686J23256;FLJ39164;KIAA1439;NF-I/A;NF1-A;NFI-A;NFI-L CCAAT-box-binding transcription factor;CTF;NF-I/A;NF1-A;NFI-A;OTTHUMP00000010071;OTTHUMP00000010290;OTTHUMP00000010292;OTTHUMP00000010293;OTTHUMP00000010294;OTTHUMP00000010295;TGGCA-binding protein;nuclear factor 1 A-type;nuclear factor 1/A APPROVED protein-coding ENSG00000162599 7784 09007 600727 REVIEWED 734431 NFE2L2 nuclear factor (erythroid-derived 2)-like 2 This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 2 2 q31 177803282 177837663 - 178095031 178129859 - 1580863;5134971;5134973;5134977;5134980;6480464;6893371;6893376;6893397;6893370;6893372;6893396;6893326;6893386;6893408;6907045 18787991;18559366;19176347;18556627;18200051;21514635;18957896;18417483;22367278;19138753;20064547;21439372;14673141 20446773;20446774;21212410;20428777;22279539;7937919;19478192;19424503;19273602;19272177;19182219;19158945;19138946;18981090;18846238;18838122;18829555;18813798;18802114;18757741;18756969;18692501;18622263;17603223;17562481;17384144;17259171;17234762;17145701;17143558;17109620;17077087;17065227;17020408;16951152;16950787;16923960;16857669;16790425;16716189;16551619;16551616;16545679;16507366;16478829;16344560;16339837;16325767;16308312;16220540;16177082;16137655;16123320;16092930;16038408;16000310;15964514;15944151;15923610;15917255;15917227;18613447;18613373;18585411;18572023;18566994;18566336;18537816;18467642;18444152;18434303;18424257;18413364;18404535;18372916;18353146;18316592;18261463;18240569;18238777;18202225;18172853;18162601;18156441;18097597;18074351;18049112;18038766;18036733;17982693;17925401;17875699;17875642;17822364;17726138;17673673;17636022;17609210;17606720;15734732;15601839;15525690;15489334;15358217;15282312;15020583;14985350;14565864;14529549;14517554;14517290;12947090;12805554;12556532;12506115;12490281;12477932;12446695;12441344;12435735;12370194;12198130;12145307;12084707;12084617;12020345;11683914;11439354;11274184;11256947;11035812;11013233;10930400;10747902;10510468;10419538;9887101;9872330;9150357;7868116;18358244;18417180;15901726;21278237;21357422;21367536;14612418;21725920;22201269;22213475;22872865;19967722;20232342;20452972;20062840;20395535;20421418;20440267;20673799;21051083;21211512;21144518;20446765;21172416;16314513;16888629;17462537;17822677;19254160;19321346;19345732;19417020;19484125;19489739;19538980;19558496;19573594;19575798;19576171;19608619;19614772;19618868;19643729;19668370;19669099;19671143;19706542;19715681;19720220;19720622;19723058;19751820;19808663;19821532;19822148;19844581;19844776;19889935;19901266;19934254;19948975;20011043;20026169;20053997;20061377;20064636;20068043;20089859;20103708;20142043;20185790;20196834;20229611;20368435;20378532;20421815;20507872;20534903;20309604;20418481;20681784;21196497;21320471;20806931;20956535;15572695;18029348;20211142;20805228;20534738;20664557;20118824;20216230;20347035;20427290;20452971;15367669;20887713;20175229;20175230;20175231;20175232;20707922;15983046;15985429;20682644;20511222;20595649;20516531;20608163;20644561;20647061;20718723;20805158;14585973;21062981;20623181;21107315;20027226;21676886;21383067;22005287;15870285;18241676;21270272;21251164;21216956;21205897;21228930;20932318;21127061;22767273;22445099;22513881;22609006;22798149;22310733;22492997;22684020;22749810;22791762;23052169;23043106;21382013;21248763;21422597;21482715;20655719;21734707;21249230;21443946;21524888;21622902;21277289;16790436;21412259;22033923;21943684;22089114;22142473;21402726;21487034;21651857;21670314;22691366;23045018;23076395;22951256;21489257;21816220;19560419;21969819;22078454;22016591;22215675;22042007;22227268;22942279;23046979;23077289;19920073;20486933;21747966;20599909;21211285;21883218;22010800;21596795;21799005;22048642;22095074;22188542;22272327;22275372;20463144;20864537;21262351;21812759;22005302;18554677;21868703;21926171;21990354;22001310;23176750;23188707;23247010;22703534;22901367;22940790;23165982;23403272;21693764;21897267;21906983;21949655;22901690;23061798;23645672;23661758;23722832;21875324;22130023;22302998;22387177;22668754;22964297;22964583;23572560;23612120;22051934;22125611;22364041;21842204;15475350;21638050;22378150;22459801;22547061;22558124;22751928;21964605;22331464;22314914;22575091;11909699;22614957;12360409;16006525;18387606;20484052;22207702;22245129;22460831;22645602;15379550;22370642;23543742;22804935;23023193;23305850;22648520;22672594;23056578;23117207;21988832;22448038;23056183;23056222;23259779;23276910;22943825;23365135;23284002;22806321;22874821;23281314;23382044;23390006;21861350;22693272;23066931;22493435;18981988;21756955;22528837;22836768;22851183;22594577;23614276;23622008;23255485;23496811;22716961;23089668 4780 C9J0Y1;C9J1A8;C9J3K4;C9JBM0;C9JFL6;H7C498;K7EIW5;K7ER33;Q16236 AB208786;ABBA01062230;ABBA01062231;AC079305;AF323119;AK297838;AK304555;AK310656;AK310841;AK311395;AK311688;AK314816;AK316148;AMYH01011297;AW471118;BC011558;BX649047;BX649071;CH471058;CV575212;DA436387;DC314553;HM446346;NM_001145412;NM_001145413;NM_006164;S74017 AAB32188;AAH11558;AAK01657;AAY14710;ABZ92168;ACE86746;ACE87432;ACE87835;ACT64362;ADK56055;BAD92023;BAG37339;BAG60172;BAG65350;BAH14519;EAX11061;EAX11062;NP_001138884;NP_001138885;NP_006155;Q16236 Hs.744006 1646281;1664680;1673366;1690382;1734956;1739179;1764887;1768718;1778050;2118501;2169910 A003A39;D2S1709E;D2S1921;D2S2070;D2S2577;D2S2715;DYS419;RH68866;RH70788;RH76772;SHGC-148447 NRF2 HEBP1;NF-E2-related factor 2;NFE2-related factor 2;OTTHUMP00000164988;OTTHUMP00000164989;OTTHUMP00000205250;OTTHUMP00000205251;OTTHUMP00000207980;nuclear factor erythroid 2-related factor 2;nuclear factor erythroid-derived 2-like 2;nuclear factor, erythroid derived 2, like 2 APPROVED protein-coding ENSG00000116044 7782 02732 600492 VALIDATED 733820 NFIB nuclear factor I/B 9 9 p24.1 14071847 14303945 - 14081842 14398982 - 1580863;6480464;6484113 16344560;7590749;18029348;18809517;18663748;17511965;15489334;14702039;12639247;12477932;9484777;9099724;12624117;19837271;19841262;19913121;20628086;20702610;21087353;19540848;21618541;21764851;21901247;21976542;21608007;21139048;21532573;21925980;21110914;19322201;23161775;22180456;22952844;22505352;23419831 4781 G3V1P1;O00712;Q5VW26;Q5VW27;Q5VW28;Q5VW30;Q5VW31;Q5W0Y9 ABBA01065299;ABBA01065300;ABBA01065301;ABBA01065302;ABBA01065303;ABBA01065304;ABBA01065305;ABBA01065306;AF022215;AI140312;AK094066;AK129782;AK131233;AK290603;AK299605;AL110126;AL136366;AL137017;AL441963;AL449443;AMYH01019236;AMYH01019237;AMYH01019238;AMYH01019239;BC001283;BC024316;BT007266;BX537698;BX537707;BX648416;BX648845;CD251577;CH471071;DA783871;DA785516;NM_001190737;NM_001190738;NM_005596;U07810;U70862;U85193 AAA93125;AAB41899;AAB51197;AAB82594;AAH01283;AAP35930;ABM82023;ABM85205;ACE86804;ACE87491;BAD18416;BAF83292;BAG61536;CAH56156;EAW58694;EAW58695;EAW58696;EAW58697;EAW58698;EAW58699;NP_001177666;NP_001177667;NP_005587;O00712 Hs.644095 1337793;1337821;1671141;1674278;1675263;1685367;1701442;1707908;1711054;1712605;1715189;1717953;1723589;1725137;1735934;1739353;1759213;1762333;1766669;1777585;1785480;2141317;2190503;2191361;5021937;7186717 A004O32;A006V16;D8S1564E;D9S1065E;D9S1869;D9S2012;D9S274;EST12E1;MARC_17865-17866:1025013775:1;Nfib;RH104353;RH118871;RH119845;RH120407;RH122803;RH123249;RH78074;RH80854;SHGC-146176;SHGC-149957;SHGC-151148;SHGC-152211;SHGC-82205;SHGC-86156;WI-14235 CTF;HMGIC/NFIB;NF-I/B;NF1-B;NFI-B;NFI-RED;NFIB2;NFIB3 CCAAT-box-binding transcription factor;CTF;NF-I/B;NF1-B;NFI-B;OTTHUMP00000022765;OTTHUMP00000022766;OTTHUMP00000022767;OTTHUMP00000022768;OTTHUMP00000022769;TGGCA-binding protein;nuclear factor 1 B-type;nuclear factor 1/B protein-coding ENSG00000147862 7785 09008 600728 VALIDATED 69161 NFIX nuclear factor I/X (CCAAT-binding transcription factor) The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012] 19 19 p13.3 12967584 13070610 + 13106584 13209610 + 1580863;6480464 22422452;7937100;19418463;18754024;16928756;16565071;15057824;12624117;12477932;11068044;11046146;10636857;9380514;9099724;9079676;8799200;8340106;7590749;11896613;19706729;20150379;19416921;20673863;21189253;21953450;15342556;16009940;22301465;23455924;22925353 4784 B4DHW2;C9JWJ8;K7EJB0;K7EKH0;K7EMQ5;K7EN08;K7EPU2;K7ESG9;Q9Y6R8 ABBA01029755;ABBA01029756;AC004660;AC007787;AC022152;AC138474;AK295290;AK297261;AMYH01009500;AMYH01009501;BC036885;BC117113;BC117115;BF115883;BP228658;BT019732;BX537794;CH471106;FJ861276;L31881;NG_032925;NM_001271043;NM_001271044;NM_002501;U07811;U18759;U18760;U18761 AAA53422;AAA93126;AAB52369;AAB52370;AAB52371;AAC15752;AAD38240;AAD38241;AAI17114;AAI17116;AAV38537;ACV82593;ADR83159;BAG58274;BAG59737;CAD97845;EAW84338;EAW84339;EAW84340;EAW84341;EAW84342;NP_001257972;NP_001257973;NP_002492;Q14938 Hs.257970 1680675;1713979;1719995;1728893;1739531;1771366;2125543;5017619;5126433 D19S817;G49214;NFIX;RH119419;RH123975;RH18298;RH66061;RH91530;STS-N23687 MRSHSS;NF1A;SOTOS2 CCAAT-box-binding transcription factor;CTF;NF-I/X;NF1-X;NFI-X;TGGCA-binding protein;nuclear factor 1 X-type;nuclear factor 1/X;nuclear factor i/x APPROVED protein-coding ENSG00000008441 7788 01234 164005;602535;614753 REVIEWED 69148 NFIC nuclear factor I/C (CCAAT-binding transcription factor) The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 19 19 p13.3 3310616 3414603 + 3359561 3469215 + 6480464;6484113 1524678;18809517;18775869;18765927;18421093;17936922;17186943;17081983;16847321;15999204;15489334;15302935;15057824;14684846;12477932;12221105;8710515;8628270;7590749;3398920;9099724;12624117;16189514;20145151;10085123;10327073;19706729;19752192;19755487;20379614;7961993;9417094;20881960;10737800;15342556;15851553;8889548;19471022;21139048;22195013;19322201;22420942;22242598;19505873 4782 B7Z4T6;Q9UPJ9 ABBA01002817;ABBA01002818;ABBA01002819;ABBA01002820;ABBA01002821;ABBA01002822;ABBA01002823;ABBA01002824;ABBA01002825;AC005514;AC005551;AC005778;AC007792;AC093077;AC104104;AK129956;AK289885;AK297825;AK297867;AK304816;AL042511;AMYH01009308;AMYH01009309;AMYH01009310;AMYH01009311;AMYH01009312;AMYH01009313;BC012120;BE887429;BF763988;BI253961;BP279194;BQ894051;BU727954;CB053896;CH471139;CK431049;CR536507;NG_030333;NM_001245002;NM_001245004;NM_001245005;NM_005597;NM_205843;X12492;X92857 AAC32593;AAC32594;AAC33190;AAC33191;AAC33192;AAC62842;AAH12120;ABM84581;ABM86721;BAC85258;BAF82574;BAH12672;BAH12681;BAH14259;CAA31012;CAA63440;CAG38745;EAW69323;EAW69324;EAW69325;EAW69326;NP_001231931;NP_001231933;NP_001231934;NP_005588;NP_995315;P08651 Hs.170131 1677230;1763733;1773078;1778340;1851642;2142512;2151659;2177172;5092848;5093274 A008X33;A009K36;G32369;G32622;RH36034;RH47688;RH67057;RH70943;SHGC-147406;WI-12079 CTF;CTF5;MGC20153;NF-I;NFI CCAAT-binding transcription factor;CCAAT-box-binding transcription factor;NF-I/C;NF1-C;NFI-C;TGGCA-binding protein;nuclear factor 1 C-type;nuclear factor 1/C;nuclear factor i/c APPROVED protein-coding ENSG00000141905 7786 600729 REVIEWED 1603004 NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 19 19 19 q13.12 33093331 33105743 - 41070983 41083392 - 36379143 36391552 - 6480464 14702039;12477932 84807 K7EKM2;K7ENW9;Q8NI38 ABBA01018772;AD000864;AF385433;AF385434;AK126825;AMYH01009735;AMYH01009736;BC006273;BC119646;BC119647;NM_139239 AAH06273;AAI19647;AAI19648;AAM43834;AAM43835;NP_640332;Q8NI38 Hs.466531 1689181;1712034;5015404;5015861;5015961;5016478;5020229;5020740;5022322;5022578;5037552;7185938 D10S16;D11S2560;D15S1477;D1S1423;D8S2279;GDB:434012;L17705;L17770;L17809;RH118714;RH98854 IkappaBNS;MGC11314;MGC149503;TA-NFKBH I-kappa-B-delta;NF-kappa-B inhibitor delta;ikB-delta;ikappaBdelta protein-coding ENSG00000167604 15671 18140 PROVISIONAL 732611 NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011] 19 19 q13.1 44082455 44091374 + 39390340 39399534 + 1580863;2292172;6480464;6907045 18267068 15601829;7776974;10723127;19527514;19500386;19453261;18950638;18818748;18636124;18434448;18356846;17463416;15919917;15489334;15308628;15024091;14743216;14685242;12672800;12651903;12477932;12475944;12424381;12034707;11839392;11511100;10799874;10657303;10580107;10514424;10498867;10480634;9763672;9721103;9689078;9452433;9278383;9252186;9135156;8816457;8709193;8657102;8615004;15103018;9346485;10706725;16344560;21670849;19948975;20056178;20448286;15276183;19913121;20628086;20140262;20716621;20819778;11500849;15536134;8889549;21832049;22081069;11485410;21862596;15917220;20801175 4793 G5E9C2;H0YFH0;I3L1A4;I3L4X3;Q15653 AA044256;AB209784;AB362577;ABBA01040709;AC011455;AI684894;AK057862;AK290569;AMYH01009789;AY736284;BC007197;BC015528;BI520169;BM008311;BM449613;BQ440907;BT006743;BU150265;BU634404;BX111397;CH471126;DA633677;L40407;NG_029624;NM_001243116;NM_002503;NR_040515 AAC41742;AAH07197;AAH15528;AAP35389;AAU10088;ABM84730;ABM92250;BAB71599;BAD93021;BAF81542;BAF83258;EAW56839;EAW56840;EAW56841;EAW56842;EAW56843;NP_001230045;NP_002494;Q15653 Hs.9731 1687872;5015961;5037552 D15S1477;D8S2279;RH93707 IKBB;TRIP9 NF-kappa-B inhibitor beta;NF-kappa-BIB;TR-interacting protein 9;TRIP-9;ikB-B;ikB-beta;ikappaBbeta;thyroid receptor-interacting protein 9 APPROVED protein-coding ENSG00000104825 7798 07260 604495 REVIEWED 1352834 NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011] 6 6 p21.1 44333881 44341503 - 44225903 44233525 - 1580863;2292172;6480464;6907045 18267068 16769727;9135156;19527514;19019335;18818748;18676680;18434448;17976673;17463416;16716191;14743216;14595753;12477932;12361703;11970947;10998424;10706725;9315679;9223487;8415639;8139561;16189514;18029348;19170196;19573080;19625176;19692168;19773279;19948975;20056178;20448286;20140262;20568250;20711808;19913121;20628086;15536134;22939629;23028356;22446963;21988832;23615073 4794 H0Y4W4;H3BNC2;O00221;Q96F31 ABBA01050642;AF261937;AK130739;AK301360;AL139392;AMYH01016321;AY779755;BC011676;BC063609;BG759212;BX367256;CH471081;NM_004556;U91616 AAC51216;AAH11676;AAH63609;AAI66665;AAM27002;AAV31776;BAC85418;BAH13464;EAX04262;EAX04263;EAX04264;NP_004547;O00221 Hs.458276 1664633;1786090;2148319;2167183;2217666 D6S1157E;NFKBIE_3084;RH15775;SHGC-156273;SHGC-32848 IKBE I-kappa-B-epsilon;NF-kappa-B inhibitor epsilon;NF-kappa-BIE;OTTHUMP00000016522;ikB-E;ikB-epsilon;ikappaBepsilon APPROVED protein-coding ENSG00000146232 7799 05181 604548 REVIEWED 1350232 NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p12-q12 103029547 103062556 + 101546834 101579869 + 737633;6480464 12477932 19595668;18850010;18813073;18436238;18362142;17447895;16622025;16513645;15618216;15522867;15241416;14702039;12565889;11356851;11278262;19798075;16344560;19707556;19783680;20211142;20650996;21224476;22059479;21833088 64332 C9J5G8;C9J5I7;C9JZ23;H7C5S1;Q9BYH8 AB037925;AB074898;ABBA01061766;ABBA01061767;AC020651;AF548362;AK054787;AK091782;AMYH01013361;AW004900;BC014587;BC060800;BM050734;BX492097;CH471052;DA541852;DQ224339;NM_001005474;NM_031419 AAH60800;AAN40698;ABB02425;BAB40337;BAC03746;BAG51424;EAW79771;EAW79772;EAW79773;NP_001005474;NP_113607;Q9BYH8 Hs.319171 1653607;1663809;1735098;1764113;2114602;2175679 D3S2778E;RH79096;SHGC-147762;SHGC-34272;SHGC-36176;SHGC-77168 FLJ30225;FLJ34463;IKBZ;INAP;MAIL I-kappa-B-zeta;IL-1 inducible nuclear ankyrin-repeat protein;Ikappa B-zeta variant 3;IkappaB-zeta;NF-kappa-B inhibitor zeta;OTTHUMP00000214320;OTTHUMP00000214321;OTTHUMP00000214324;OTTHUMP00000214340;ikB-zeta;ikappaBzeta;molecule possessing ankyrin repeats induced by lipopolysaccharide APPROVED protein-coding ENSG00000144802 29805 09217 608004 REVIEWED 7174895 NFU1P1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 1 3 p22.1 39685531 39686193 + 100132681 ABBA01024799;AC104444;AMYH01013099;NG_022247 2176139;5093536 A009Q20;G32776 pseudo 44553 INFERRED 1351897 NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 6 6 p21.3 31623351 31634585 + 31514628 31526606 + 6480464;7240710 17353931;8081366;18029348;19242354;19165231;19158815;19143814;18987644;18295675;17855452;17847930;17544510;17517687;17485095;17119950;16804398;16720219;16644022;16634865;16101831;15969671;15843211;15018649;14989711;14574404;12618859;12509789;12477932;11113070;10369924;10202016;9480751;8499947;20568399;19773279;19851445;19886988;20379614;19578685;20662065;19913121;20587610;20628086;20854863;20933106;22210660;21988832;23128233 4795 A8K778;F2Z390;Q5STV5;Q5STV6 AB088115;AB103621;AB202112;ABBA01038081;AF097419;AF097420;AF097421;AF097422;AF097423;AF097424;AF097425;AF097426;AF097427;AF097428;AF097429;AK291893;AK300818;AK313888;AL662801;AL662847;AL929587;AMYH01016217;BA000025;BC105064;BC105068;BC143671;BM044744;BX001040;BX248516;BX927320;CH471081;CR753892;CR942185;DC370256;NG_012344;NM_001144961;NM_001144962;NM_001144963;NM_005007;X77909;Y14768 AAD38108;AAD38109;AAD38110;AAD38111;AAD38112;AAD38113;AAD38114;AAD38115;AAD38116;AAD38117;AAD38118;AAI05065;AAI05069;AAI43672;ABZ92040;BAB63398;BAC54951;BAE78635;BAF31285;BAF84582;BAG62473;CAA54867;CAA75072;EAX03417;EAX03418;EAX03419;EAX03420;EAX03421;NP_001138433;NP_001138434;NP_001138435;NP_004998;Q9UBC1 Hs.2764 2119048;2185285 RH46868;STS-X77909 IKBL;LST1;NFKBIL I-kappa-B-like protein;NF-kappa-B inhibitor-like protein 1;OTTHUMP00000029044;OTTHUMP00000029045;OTTHUMP00000165888;ikappaBL;inhibitor of kappa B-like protein;inhibitor of kappa light chain gene enhancer in B cells-like APPROVED protein-coding ENSG00000204498 7800 07043 180300;601022 REVIEWED 7174897 NFU1P2 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 2 1 p21.3 98542370 98543056 + 100132699 ABBA01045468;AC104453;AMYH01000819;NG_022795 pseudo 44554 INFERRED 1316230 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) This gene encodes one of the subunits of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB transcription factor complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The NFkB complex can consist of different subunits that form both homo- or heterodimers which bind specific kappa-B elements in target genes. This gene encodes the p100 subunit that is processed into the active p52 subunit. This protein can function as both a transcriptional activator and repressor, depending on its dimer partner. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, May 2012] 10 10 q24 104144219 104152271 + 104153867 104162286 + 1580863;2292172;2302394;2302392;2298775;6480464;6484113;6907045 18267068;17250675;18534259;18633731 20460684;20598117;8441377;11526476;16108830;1876189;1760839;8360178;9407099;15677444;10723127;19527514;19524538;19258923;19219072;19098713;18818748;18781579;18660489;18550535;18466468;18434448;18383001;18377428;18321863;18025196;17715223;17703412;17548614;17476277;17363471;17292587;17237370;17028057;17003035;16990795;16940298;16751281;16651533;16368877;16344560;16303288;16260623;16223731;15782119;15677466;15489334;15485830;15310758;15164054;15140882;14743216;14676825;14532284;12927781;12894228;12808109;12524526;12505990;12485413;12482669;12477932;12473373;12427593;12389034;12352969;12185077;12167619;12040437;11994270;11980335;11833470;11827962;11707390;11704662;11579140;11522182;12874295;11511100;12835724;11468175;11385624;11299302;11241736;11239468;11160671;11044099;10823818;10799874;10671224;10644726;10644332;10597218;10580107;10562553;10480634;10446807;10400814;10393859;10384093;10225209;10207088;9895331;9792375;9730685;9566873;9525916;9510190;9384586;9315679;9278385;9110146;8887665;8834464;8724035;8717528;8709193;8676466;8627654;8615004;8453667;8413211;8207793;8152812;8113688;8108136;8036016;7969113;7949142;7859743;7838536;7823959;7800480;7729429;7690421;7541912;7494249;1612589;1583734;1531086;1505523;1473734;17197385;15103018;15258149;18617892;14678988;7933095;15469820;9135156;21131783;12917325;15799966;16385451;17183367;18025803;19573080;19591173;19773279;19860880;19948975;20037209;20038584;20346360;20353939;20388792;20448286;20503287;15276183;18029348;19913121;20628086;20628624;20211142;20568250;20734064;20708837;12374738;21048223;22642622;22734038;22879398;21228035;21871426;17962807;19542561;22096027;22318606;19471022;22083306;21988832;23211527;23383273;20800578;23219896;23524849;20558726;21139048;21846842;21906983;21963094;21987572;22198284;17563756;22388891;22864569;16009713;21325409;18160848;18538010;18971284;19479051;22017875;22341466;22797925 4791 AAB23437;M0QZX1;M0R119;Q00653 ABBA01063159;ABBA01063160;AK098415;AK292654;AL121928;AMYH01003017;AY865619;BC002844;BT009769;BY799958;CH471066;DA349980;DA408461;DA711063;DB091090;HI573866;HI573868;HI573870;NM_001077494;NM_001261403;NM_002502;NR_048560;S76638;U09609;U20816;X61498;X61499 AAA21462;AAA68171;AAB21124;AAB23437;AAH02844;AAP88771;AAW56071;BAF85343;CAA43715;CAA43716;CBX47422;CBX47423;CBX47424;EAW49700;EAW49701;EAW49702;EAW49703;EAW49704;EAW49705;EAW49706;NP_001070962;NP_001248332;NP_002493;Q00653 Hs.73090 1651721;1745959;2113950;2159899 A007E10;AB055379;AI426354;RH78118 H2TF1;LYT-10;LYT10;NF-kB2;p105;p52 DNA-binding factor KBF2;H2TF1;OTTHUMP00000020371;OTTHUMP00000059136;lymphocyte translocation chromosome 10 protein;nuclear factor NF-kappa-B p100 subunit;nuclear factor of kappa light chain gene enhancer in B-cells 2;oncogene Lyt-10 APPROVED protein-coding ENSG00000077150 7795 01239 164012 REVIEWED 730892 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 4 4 q24 103641518 103757507 + 103422486 103538459 + 1581122;1580656;1581123;1581124;1580863;2292172;2298900;2302394;5135028;6480464;6484113;6907045 15749748;15728586;14662712;16465659;18267068;17492467;17250675;21643627 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4790 D6RC45;D6RDI9;D6RF93;D6RH30;P19838 ABBA01063700;ABBA01063701;AC021120;AF213884;AI076882;AK122850;AK291450;AMYH01014432;AY223820;BC033210;BC051765;BQ023914;CH471057;CR749522;JA362590;M55643;M58603;NM_001165412;NM_003998;Z47748 AAA36360;AAA36361;AAF35232;AAH33210;AAH51765;AAO30127;ABZ92169;BAF84139;BAG53760;CAB94757;CAH18336;CCA94577;EAX06134;EAX06135;EAX06136;NP_001158884;NP_003989;P19838 Hs.618430 1663117;1672744;1710862;1797900;1849268;1855725;1858086;2113770;2128333;2140667;2144633;2166873;2176619 A006S27;NFKB1;NFKB1_1991;RH16194;RH46916;SHGC-12798;SHGC-24813;SHGC-24828;SHGC-50563;SHGC-50573;SHGC-59270;SHGC-59779;SHGC-84209 DKFZp686C01211;EBP-1;KBF1;MGC54151;NF-kB1;NF-kappa-B;NF-kappaB;NFKB-p105;NFKB-p50;NFkappaB;p105;p50 DNA binding factor KBF1;DNA-binding factor KBF1;NF-kappabeta;OTTHUMP00000161765;OTTHUMP00000216418;OTTHUMP00000219572;nuclear factor NF-kappa-B p105 subunit;nuclear factor NF-kappa-B p50 subunit;nuclear factor kappa-B DNA binding subunit APPROVED protein-coding ENSG00000109320 7794 01238 164011 REVIEWED 735440 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] 14 14 q13 34940468 34943695 - 35870716 35873960 - 1580863;2292172;2298893;2298898;2298894;2298895;2298905;2298900;6480464;5147676;6484113;6907045;7240710 18267068;10340377;16540234;10556199;12377412;15198731;17492467;16006567 12973300;7739562;16951195;1493333;9859996;10747850;16938301;3140380;10723127;7679069;19573080;19554506;19527514;19522780;19507254;19500386;19453261;19363678;19297320;19258923;19223558;19213954;19187648;19046417;19019440;18981184;18950845;18818748;18716880;18660489;18636537;18636124;18606063;18600435;18555796;18515365;18511071;18474597;18434448;18356846;16407234;16258173;16189514;16105840;16046415;15979856;15858823;15811852;15671028;15613239;15536134;15489334;15389633;15389589;15337789;15330761;15247916;15202778;15184376;15173174;15161102;15125834;15073126;15068390;14961554;14743216;14685242;14623898;14576361;14561767;14523047;13680285;18215193;18071880;17991436;17942396;17910475;17703412;17701919;17681786;17607549;17593226;17463416;17354114;17351338;17333217;17318773;17316064;17307728;17284228;17148610;17115186;17062574;17003112;16955245;16931600;16919536;16756995;16737960;18260825;16426569;20890592;12972430;12944982;12921778;12897149;12748192;12711606;12704657;12651903;12620896;12589049;12518988;12477932;12433922;12429743;12419806;12406554;12388747;12297126;12244195;12193729;12167702;12086926;12084717;12028809;11983170;11913973;11809792;11799106;11696595;11511100;11493922;11313474;11287411;11278695;11106428;11095741;11042193;10969074;10928981;10882136;10869418;10848576;10783893;10657303;10655476;10644755;10637284;10635328;10582246;10580107;10521480;10480634;10421793;10398585;10393859;10329681;10102628;10085062;10026139;9990853;9892650;9882613;9873017;9865694;9865693;9792645;9738011;9734360;9721103;9566883;9452483;9409737;9372968;9334723;9252186;9244310;9214631;9060679;8940099;8889548;8797825;8709193;8657102;8622692;8615004;8601309;7878004;7700645;7565415;7479976;1829648;1427874;16429138;15103018;11959143;16001969;15817944;15725353;15142381;12419805;18503636;10023675;9891086;9751059;9346485;10094049;11533489;8139561;10706725;16169070;10362352;15856023;15782119;14534291;12477728;9135156;15746428;15808510;15084260;15218148;19206148;22184009;22393418;22590978;11020244;11027288;12138192;12190313;12324474;16378096;16611882;17053167;19053519;19222990;22685297;9689078;22509384;22605335;9875328;10968793;11231305;21376060;20388715;16098527;19219072;20546338;10498867;10733566;11931770;15173580;15601829;15657065;16195219;16286467;16291755;16319058;16997282;17060341;17318178;17612295;17956732;18199400;19296948;19456861;19543524;19591507;19673747;19733238;19758175;19773279;19773451;19797428;19816602;19879840;19886988;19891769;19941056;19948975;20056178;20068069;20080849;20132559;20164548;20193848;20304615;20335171;20379146;20379614;20448286;20453000;20495844;20503287;8246997;20696864;18029348;20568250;20716621;20811626;20953189;20953190;21048031;20237821;20980497;20385620;20797629;12054687;20836841;15276183;16371367;20652762;19913121;20563630;20628086;20628624;20659425;20674643;19798070;16648481;16750872;21175304;10713156;11415944;11483504;21263074;21220295;11950839;18045535;18255255;10066435;10230406;10514433;19648161;8887633;10066434;10075690;12151397;20065107;21454528;7628694;8631829;8978697;9261139;10930447;23250755;19494296;19933270;20347421;20353940;20932476;21778941;21896478;21228035;12165731;20551178;21606193;22302838;10570937;19625650;20558726;22022389;22081069;19245366;21906983;22156201;9990852;23054188;16236267;22078572;18501560;11572859;14690596;15590691;16547522;18957422;18981174;20638939;21862596;22388891;9914500;11064457;11080499;11830587;12709429;14500727;15799966;15917220;16354686;16573520;17079871;17379600;17384642;20133937;21451109;18003900;12486103;16481475;17363905;17363973;18429822;20434986;21217772;21811235;21963094;21988832;23274114;8887627;18949366;23487427;23563313;23604351;23322360;23453579;23285182;22935973;11113112;12411322;15670770;12943667;15749833;18074035;18672082;19622906;20012522;20449947;21175585;21664225;21712995;21951552;22187158;22990857;23046941;23284737;23383273;23393163 4792 G3V286;G3V2A2;G3V3I4;G3V3K1;P25963 ABBA01061503;AJ249290;AJ249294;AK311515;AK313421;AL133163;AMYH01005666;AY033600;AY496422;BC002601;BC004983;BT007091;BU737609;CH471078;CS542431;HI574170;M69043;NG_007571;NM_020529 AAA16489;AAH02601;AAH04983;AAK51149;AAP35754;AAR29599;BAG36213;CAB65113;CAB65556;CAM91165;CBX47574;EAW65875;NP_065390;P25963 Hs.81328 1662532;1694914;1743667;1792032;1792508;2107437;2132107;2190615 D14S1326;G44344;GDB:366518;NFKBIA;NFKBIA_2537.2;PMC135646P3;PMC152543P2;RH69167 IKBA;MAD-3;NFKBI I-kappa-B-alpha;IkappaBalpha;NF-kappa-B inhibitor alpha;OTTHUMP00000178842;OTTHUMP00000245015;OTTHUMP00000245885;ikB-alpha;major histocompatibility complex enhancer-binding protein MAD3;nuclear factor of kappa light chain gene enhancer in B-cells;nuclear factor of kappa light chain gene enhancer in b-cells inhibitor, alpha APPROVED protein-coding ENSG00000100906 7797 01235 164008;612132 REVIEWED 2293177 NFYAP1 nuclear transcription factor Y, alpha pseudogene 1 13 13 13 q21.31 45450336 45450979 - 63447913 63448556 - 64549913 64550556 - 100130677 ABBA01050257;AL355879;AMYH01005179;NG_007867 NFYAP APPROVED pseudo 34078 INFERRED 1317241 NFU1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 2 2 2 p15-p13 69473252 69514522 - 69476756 69518257 - 69623245 69664760 - 6480464;7240710 12886008;11342215;12915448;19146390;12477932;10810093;16169070;19722697;20877624;21944046;22077971;16341674;18029348;18654987;22190034 27247 C9J8Q1;F8W9P7;F8WAV1;F8WET4;H7C537;Q9UMS0 AA625581;ABBA01075499;ABBA01075500;ABBA01075501;ABBA01075502;ABBA01075503;ABBA01075504;AC114772;AF132967;AI129426;AJ132584;AK300700;AK308567;AK314004;AMYH01010420;AMYH01010421;AY286306;AY286307;AY335194;BC113692;BC113694;BG385940;BM846341;BU178674;BU507991;BX538347;CH471053;DB496651;NG_031931;NM_001002755;NM_001002756;NM_015700;NR_045631;NR_045632 AAD27742;AAI13693;AAI13695;AAP92372;AAP92373;AAQ73784;AAY14828;ADR83501;BAG36716;BAG62381;CAB53015;CAD98142;EAW99849;EAW99850;NP_001002755;NP_001002756;NP_056515;Q9UMS0 Hs.430439 2135122;2176139;5015619;5016478;5022200;5037552;5093536 A009Q20;D11S3114;D8S2279;G32776;GDB:434012;L18426;RH79097 CGI-33;HIRIP;HIRIP5;MGC142252;MGC142254;MMDS1;NIFUC;Nfu;NifU HIRA interacting protein 5;HIRA-interacting protein 5;NFU1 iron-sulfur cluster scaffold homolog, mitochondrial;NifU-like C-terminal domain containing;OTTHUMP00000202180;OTTHUMP00000202204;OTTHUMP00000214438;OTTHUMP00000214439;OTTHUMP00000214465;OTTHUMP00000214466;iron-sulfur cluster scaffold protein APPROVED protein-coding ENSG00000169599 16287 12163 605711;608100 REVIEWED 1321083 NFX1 nuclear transcription factor, X-box binding 1 MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008] 9 9 p13.3 33280510 33361155 + 33290418 33371155 + 1580863;6480464 7964459;19369336;18505829;17267499;16687406;15371341;15358174;14702039;12477932;12226669;10500182;8125298;2511169;11073998;16344560;17567985;19690564;20739528;16751776;20211142;21139048;21906983 4799 A0JLR2;Q12986 ABBA01065061;ABBA01065062;ABBA01065063;ABBA01065064;AF332009;AI679589;AK055847;AK225750;AK291643;AL356218;AL356472;AL832342;AMYH01019322;AW674001;BC006447;BC012151;BP871782;BX647337;CH471071;DA093124;NG_029578;NM_002504;NM_147133;NM_147134;U15306;U19759 AAA69517;AAB94787;AAH06447;AAH12151;AAK16545;ABM84602;ABM86769;BAF84332;EAW58507;EAW58508;EAW58509;EAW58510;EAW58511;NP_002495;NP_667344;NP_667345;Q12986 Hs.413074 1669745;1680920;1723845;1735910;2153427;2163886;2172996 D9S1052E;D9S1081;RH118658;RH35865;RH75007;STS-AA037854;WI-22028 DKFZp779G2416;MGC20369;NFX2 OTTHUMP00000021213;OTTHUMP00000021214;OTTHUMP00000021215;nuclear transcription factor, X box-binding protein 1;transcriptional repressor NF-X1 APPROVED protein-coding ENSG00000086102 7803 11936 603255 REVIEWED 1350532 NFS1 NFS1 cysteine desulfurase Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 20 20 20 q11.22 31004905 31035569 - 33720025 33750688 - 34256610 34287287 - 1580863;6480464;6907045 16527810;18650437;16847322;9885568;17474147;15489334;14702039;12477932;11780052;11256614;11124703;11060020;22689995;8125298;17567994;17207965;20877624;16344560;19720832;21081666;21906983;21963094 9054 A2A2M1;B4DNL7;F2Z2E7;F8WB23;F8WCX6;F8WER8;H0YGN5;H7C0I5;H7C3D4;Q53FP3;Q8WV90;Q9Y697 ABBA01019151;ABBA01019152;AF097025;AJ010952;AK001265;AK001470;AK056242;AK091049;AK223239;AK295215;AK297969;AK301969;AK302023;AK312293;AL109827;AL357374;AMYH01011875;BC018471;BC065560;CH471077;DA082829;NG_033237;NM_001198989;NM_021100;NR_037570;R16676 AAD09187;AAH18471;AAH65560;ADQ32594;ADZ15829;BAD96959;BAG35220;BAG50917;BAG51655;BAG58209;BAG60279;BAG63382;BAG63421;CAA09424;CAB87612;EAW76170;EAW76171;EAW76172;NP_001185918;NP_066923;Q9Y697 Hs.194692 1728949;1777710;1799896;1804924;1808930;1812852;1812914;1812916;1818210;1818412;1818992;1819162;1820106;1821176;1822504;1831914;1832148;1839640;1842768;1842770;1843788;1845552;1975558;1975560;1975562;1975564;1975566;1975568;1975570;1975572;1975574;1975576;1975578;1975580;1975582;1975584;1975586;1975588;1975590;1975592;1975594;1975596;1975598;1975600;1975602;1975604;1975606;1975608;1975610;1975612;1975614;1975616;1975618;1975620;1975622;1975624;1975626;1975628;1975630;1975632;1975634;1975636;1975638;1975640;1975642;1975644;1975646;1975648;1975650;1975652;1975654;1975656;1975658;1975660;1975662;1975664;1975666;1975668;1975670;1975672;1975674;1975676;1975678;1975680;1975682;1975684;1975686;1975688;1975690;1975692;1975694;1975696;1975698;1975700;1975702;1975704;1975706;1975708;1975710;1975712;1975714;1975716;1975718;1975720;1975722;1975724;1975726;1975728;1975730;1975732;1975734;1975736;1975738;1975740;1975742;1975744;1975746;1975748;1975750;1975752;1975754;1975756;1975758;1975760;1975762;1975764;1975766;1975768;2108841;2121620;2186689;2215576;2215578;2215580;2215582;2215584;2215586;2215588;2215590;2215592;2215594;2215596;2215598;2215600;2215602;2215604;2215606;2215608;2215610;2215612;2215614;2215616;2215618;2215620;5014051;5020414;5022200;5022651;5037552 D10Bir17;D11S2921;D8S2278;D8S2279;ECD00802;ECD03398;ECD05448;ECD07439;ECD07471;ECD07472;ECD10162;ECD10264;ECD10561;ECD10648;ECD11126;ECD11665;ECD12340;ECD17095;ECD17212;ECD21003;ECD22591;ECD22592;ECD23105;ECD23994;L17688;L18426;NFS1__6240.2;REN58665;REN58666;REN58667;REN58668;REN58669;REN58670;REN58671;REN58672;REN58673;REN58674;REN58675;REN58676;REN58677;REN58678;REN58679;REN58680;REN58681;REN58682;REN58683;REN58684;REN58685;REN58686;REN58687;REN58688;REN58689;REN58690;REN58691;REN58692;REN58693;REN58694;REN58695;REN58696;REN58697;REN58698;REN58699;REN58700;REN58701;REN58702;REN58703;REN58704;REN58705;REN58706;REN58707;REN58708;REN58709;REN58710;REN58711;REN58712;REN58713;REN58714;REN58715;REN58716;REN58717;REN58718;REN58719;REN58720;REN58721;REN58722;REN58723;REN58724;REN58725;REN58726;REN58727;REN58730;REN58731;REN58732;REN58733;REN58734;REN58735;REN58736;REN58737;REN58738;REN58739;REN58740;REN58741;REN58742;REN58743;REN58744;REN58745;REN58746;REN58747;REN58748;REN58749;REN58750;REN58751;REN58752;REN58753;REN58754;REN58755;REN58756;REN58757;REN58758;REN58759;REN58760;REN58761;REN58762;REN58763;REN58764;REN58765;REN58766;REN58767;REN58768;REN58769;REN58770;REN58771;REN58772;RH41786;SHGC-32196;STS-D45601;stSG636783;stSG636784;stSG636785;stSG636786;stSG636787;stSG636788;stSG636789;stSG636790;stSG636791;stSG636792;stSG636793;stSG636794;stSG636795;stSG636796;stSG636797;stSG636798;stSG636799;stSG636800;stSG636801;stSG636802;stSG636803;stSG636804;stSG636805 HUSSY-08;IscS;NIFS NFS1 nitrogen fixation 1 homolog;OTTHUMP00000030799;OTTHUMP00000030800;OTTHUMP00000179026;cysteine desulfurase, mitochondrial;nitrogen fixation 1 (S. cerevisiae, homolog);nitrogen-fixing bacteria S-like protein APPROVED protein-coding ENSG00000244005 15910 04597 603485 REVIEWED 1321531 NFRKB nuclear factor related to kappaB binding protein 11 11 11 q24-q25 126901823 126933652 - 129239568 129268114 - 129733670 129765490 - 6480464 15489334;15302935;12477932;8889548;2050119;1427843;1777480;17081983;16565220;16344560;21145461;17643375;18029348;19573080;19615732;19773279;20237496;20379614;18922472;20568250;21303910;22939629;22863883;20811636;17721549;21139048;21693764;21890473;19471022;22291976;22984442 4798 E9PJE1;E9PJG2;E9PJU3;E9PM88;E9PQ59;E9PQB0;Q6P4R8 ABBA01023022;AL512730;AMYH01004125;AP003327;BC063280;BM975529;CH471065;DA324031;NM_001143835;NM_006165;X80878 AAH63280;CAA56846;CAC21663;EAW67752;EAW67753;EAW67754;EAW67755;EAW67756;EAW67757;EAW67758;NP_001137307;NP_006156;Q6P4R8 Hs.530539 1682820;1698248;1731233;1742491;2137505;2151191 A004Y37;D11S445;D11S4699;GDB:197564;RH102660;RH79933 DKFZp547B2013;INO80G DNA-binding protein R kappa B;DNA-binding protein R kappa-B;INO80 complex subunit G;OTTHUMP00000230901;OTTHUMP00000230902;OTTHUMP00000230903;OTTHUMP00000230904;nuclear factor related to kappa b binding protein;nuclear factor related to kappa-B-binding protein protein-coding ENSG00000170322 7802 01240 164013 VALIDATED 1347533 NFXL1 nuclear transcription factor, X-box binding-like 1 4 4 4 p12 48298135 48365585 - 47544014 47611390 - 47849257 47916633 - 6480464 17081983;15815621;15489334;14702039;12477932;8889548;20877624;16323267;22939629;21903422;21987572;22118674;16344560;22505724 152518 Q6ZNB6;Q8J028 AB085695;AB181916;ABBA01014337;ABBA01014338;AC107068;AK131285;AK302440;AMYH01014159;AY134856;BC018019;BC040151;BC051193;BM724120;BU568855;CH471069;DA801937;DB087408;NM_001278623;NM_001278624;NM_152995;NR_103795 AAH18019;AAH51193;AAN08626;AAY40918;BAD18459;BAG16182;BAG16261;BAH13710;EAW93041;EAW93042;EAW93043;EAW93044;EAW93045;EAW93046;NP_001265552;NP_001265553;NP_694540;Q6ZNB6 Hs.646325 2165332 SHGC-53848 CDZFP;FLJ16294;HOZFP;OZFP;URCC5 NF-X1-type zinc finger protein NFXL1;OTTHUMP00000158785;OTTHUMP00000218679;OTTHUMP00000218680;cytoplasm-distribution zinc finger protein;ovarian zinc finger protein;up-regulated in colon cancer 5 protein-coding ENSG00000170448 18726 11025 REVIEWED 1352074 NFYB nuclear transcription factor Y, beta The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008] 12 12 q22-q23 103034988 103056170 - 104510858 104532040 - 1580863;6480464;6907045 12401788;16959611;1577736;1774067;15243141;18480411;18275041;16344560;16189514;15964792;15847654;15489334;15462673;15044452;14586402;12805369;12766061;12482752;12477932;12167641;11306579;11282029;11022037;11003667;10571030;10075648;9668064;9660784;9612081;9442396;9430679;9388234;9153318;9032250;8051128;8027044;7651426;1549471;19223331;20936779;17098936;20965718;21252292;11689552;15454570;15831478;9799238;21445285;20072153;22132193;21890473;23332751 4801 F8VSL3;P25208 AA479300;ABBA01053208;AC089983;AK291934;AK311706;AL042186;AMYH01004710;AU151875;AW576189;BC005316;BC005317;BC007035;BF032637;BG776259;BQ420877;CD678671;CH471054;L06145;NM_006166;X59710 AAA59930;AAH05316;AAH05317;AAH07035;ABM84230;ABM87476;BAF84623;CAA42230;EAW97738;EAW97739;EAW97740;EAW97741;EAW97742;NP_006157;P25208 Hs.84928 2175843;2187571;2217668;5016462;5124343 GDB:384827;NFYB_4023;RH65771;RH71289;SGC38400 CBF-A;CBF-B;HAP3;NF-YB CAAT box DNA-binding protein subunit B;CCAAT-binding transcription factor subunit A;OTTHUMP00000243125;OTTHUMP00000243126;Transcription factor NF-Y, B subunit;nuclear transcription factor Y subunit B;nuclear transcription factor Y subunit beta APPROVED protein-coding ENSG00000120837 7805 01794 189904 REVIEWED 733450 NFYA nuclear transcription factor Y, alpha The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008] 6 6 p21.3 41148688 41174713 + 41040707 41070146 + 1580863;6480464;6907045 10571058;12659632;12741956;1774067;2000400;15243141;19351437;19302979;18654640;18541673;18496767;18446193;18372207;18281530;17910945;17289878;16343534;16189514;16081537;15964792;15847654;15707954;15647279;15489334;15150264;15044452;14702039;14688259;14586402;14574404;12909359;12857729;12791656;12730328;12511565;12482752;12477932;12427542;12392713;11903046;11777930;10571030;10441475;10393239;9660784;9612081;9388234;8889548;8051128;3476205;2266139;1577736;1549471;9668064;11158310;20630860;20936779;17098936;20211142;20965718;16959611;19060904;19828605;20023394;20952509;21832049;22939629;11689552;15831478;10446910;21139048;21565167;22383952;21988832;23071749;22530004;22944692;22285817;23332751 4800 P23511 AA905268;ABBA01050760;AJ420494;AK002098;AK025201;AL031778;AMYH01016291;BC026923;BC039244;BM561405;BQ184804;CH471081;M59079;NM_002505;NM_021705;X59711 AAA35950;AAH39244;ABZ92427;CAA42231;EAX04013;EAX04014;EAX04015;EAX04016;EAX04017;EAX04018;EAX04019;EAX04020;EAX04021;NP_002496;NP_068351;P23511 Hs.10441 1694150;1849212;2121875;2171713;2183117 AL035179;D6S1115E;D6S1425;RH17701;RH46298 CBF-A;CBF-B;FLJ11236;HAP2;NF-YA CAAT box DNA-binding protein subunit A;CAAT-box DNA binding protein subunit A;CCAAT-binding transcription factor subunit B;HAP2 CCAAT-binding protein;OTTHUMP00000016365;OTTHUMP00000016366;Transcription factor NF-Y, A subunit;nuclear transcription factor Y subunit A;nuclear transcription factor Y subunit alpha;nuclear transcription factor-y alpha APPROVED protein-coding 7804 01793 189903 REVIEWED 1352460 NGB neuroglobin This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. [provided by RefSeq, Jul 2008] 14 14 q24.3 76801587 76807408 - 77731834 77737655 - 1580863;6480464 21362510;11029004;19383366;19327369;19307722;19087291;19001220;18767815;18416560;18302932;17975837;17600531;17337004;17210637;16201751;15819897;15808606;15723537;15598495;15489334;15488767;15299006;15193759;15122877;15036292;14645216;14530264;12962627;12958655;12860983;12850561;12508121;21296891;12477932;12351835;12239161;11820779;11473128;15120622;20643048;23135388;20227336;19010568;20091232;19860834;20075359;20345238;20571522;21620833;21190290;21304818;21674044;21725774;21704585;21601304;21965683;15939299;22009023;22787149 58157 A0M8W9;Q9NPG2 ABBA01030656;AC007375;AC007954;AF422796;AF422797;AJ245944;AJ245946;AK098350;AK315395;AMYH01005880;AMYH01005881;BC032509;CH471061;DQ008010;NM_021257 AAF62557;AAF63183;AAH32509;AAL98923;AAL98924;AAY16983;ABM81787;ABM84942;BAG37788;CAC11133;CAC12994;EAW81274;EAW81275;NP_067080;Q9NPG2 Hs.274363 1736430;2117743;5018025 D14S1234;D14S693E;NGB OTTHUMP00000246479;neuroglobin APPROVED protein-coding ENSG00000165553 14077 05602 605304 REVIEWED 731843 NFYC nuclear transcription factor Y, gamma This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 1 1 p32 40929829 41009862 + 41157242 41237275 + 1580863;6480464;6907045 15964792;9153318;10446203;12401788;7969168;9332362;15243141;19047128;16710414;15922473;15489334;14702039;14586402;12482752;12477932;12023901;10571030;9249075;8921405;8910521;12167641;11158310;9388234;11282029;20936779;20965718;19559782;19690168;20054001;20200978;21507922;11689552;15454570;19351825;22242598;22412893;21139048;21890473;21900206;21906983;19322201;12857729;21963094;21988832;22104449;23000965;22505724;23332751 4802 E9PI99;E9PIG7;E9PJA8;E9PL11;E9PQR2;H0Y803;Q5T6K5;Q5T6K7;Q5T6L1 AB208975;ABBA01023162;ABBA01023163;ABBA01023164;ABBA01023165;AC119677;AF191744;AK000346;AK127677;AK300774;AK301215;AK301385;AL031289;AL354914;AL713771;AMYH01000538;BC005003;BT020081;CH471059;D85425;D89986;DC297902;DC391720;DC428152;NM_001142587;NM_001142588;NM_001142589;NM_001142590;NM_014223;U62296;U78774;Z70024;Z74792 AAC50816;AAC51669;AAG28389;AAH05003;AAV38884;BAA12818;BAA14051;BAA91100;BAD92212;BAG54549;BAG62438;BAG62790;BAG62925;CAA93846;CAA99055;CAD28533;EAX07198;EAX07199;EAX07200;EAX07201;EAX07202;EAX07203;NP_001136059;NP_001136060;NP_001136061;NP_001136062;NP_055038;Q13952 Hs.713051 1772944;1849685;2118793;2129303;2137151;2144045;2173080;5020274;5094856 L18441;NFYC;SHGC-34312;SHGC-56833;SHGC-74645;SHGC-74646;SHGC-74650;SHGC-74664;SHGC-74706 CBF-C;CBFC;DKFZp667G242;FLJ45775;H1TF2A;HAP5;HSM;NF-YC CAAT box DNA-binding protein subunit C;CCAAT binding factor subunit C;CCAAT transcription binding factor subunit gamma;OTTHUMP00000009207;OTTHUMP00000009208;OTTHUMP00000009209;OTTHUMP00000009210;OTTHUMP00000009211;OTTHUMP00000009212;OTTHUMP00000009213;OTTHUMP00000009215;OTTHUMP00000009216;OTTHUMP00000009217;OTTHUMP00000231028;histone H1 transcription factor large subunit 2A;nuclear transcription factor Y subunit C;nuclear transcription factor Y subunit gamma;transactivator HSM-1;transactivator HSM-1/2;transcription factor NF-Y, C subunit APPROVED protein-coding ENSG00000066136 7806 605344 REVIEWED 1319181 NGEF neuronal guanine nucleotide exchange factor 2 2 2 q37 227507672 227643202 - 233451655 233586182 - 233743396 233877951 - 1580863;6480464;6484113 16169070;18029348;17702745;16344560;15815621;15489334;12477932;11336673;10777665;19505873;11756498;12376548;12787561;19911011;20379614;21789175;21900206 25791 B4DDI2;C9J2D9;C9JTV7;H7BZ39;H7C2C2;H7C2S7;Q8N5V2 ABBA01001999;ABBA01002000;ABBA01002001;ABBA01002002;ABBA01002003;ABBA01002004;ABBA01002005;ABBA01002006;AC016692;AC106876;AJ238899;AK293203;AK297390;AK298315;AK300953;AMYH01011572;AMYH01011573;AMYH01011574;AMYH01011575;AMYH01011576;BC031573;BC073962;BX431262;CH471063;DB242442;DC388448;HQ292143;NM_001114090;NM_019850 AAH31573;AAH73962;AAX93288;AAY24359;ABM81769;ABM84924;BAG56743;BAG59830;BAG60569;BAG62581;CAC00686;EAW71024;EAW71025;EAW71026;NP_001107562;NP_062824;Q8N5V2 Hs.97316 1338169;1342010;1651191;1680449;1690125;1754285;1757189;1763773;2109557;2123137;2123139;5491483;7185067 A001U38;D2S2176;D2S331;G19669;MARC_15277-15278:1013611742:1;NGEF_9409;RH92790;RH94178;SHGC-132300;SHGC-144608;SHGC-147449;WI-3200 ARHGEF27;EPHEXIN OTTHUMP00000164372;OTTHUMP00000203451;eph-interacting exchange protein;ephexin-1 protein-coding ENSG00000066248 7807 10442 605991 VALIDATED 1343565 NHCP1 non-histone chromosome protein 1 4805 7811 118870 1352304 NGF nerve growth factor (beta polypeptide) This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008] 1 1 p13.1 115630060 115682380 - 115828537 115880857 - 1580935;1580863;2303801;2303794;2303798;2303791;2303795;2303806;2303796;4891133;4891121;4891064;4891065;4891068;4891122;4891123;4891108;4891110;4891115;5144111;5144074;5144128;5144060;5144065;5144061;5144062;5144116;5144150;5144073;5144120;5144069;5144071;5144149;5144109;5144144;5508386;5508379;5508382;6480464;6907045;7242913;7242771;7242773;7242774;7242775;7242776;7242778;7242779;7242780;7242781;7242782;7242783;7242798;7242799;7242800;7242801;7242802;7242803;7242804;7242805;7242806;7242808;7242845;7242849 11935372;19061539;19200610;19103210;19233274;19149268;18938194;19129380;20595895;12917229;19958603;19824047;17497413;12752594;11737043;17164945;16315781;10224365;9798454;12133564;21368378;21085492;17673270;21059230;20075049;18647313;20973063;12499054;17667845;16915089;16098667;21044172;10797303;21136036;8866783;12469361;11689207;22776032;23301927;23028581;22795377;22473863;22220508;21826717;21717507;21605172;20227820;20127836;19169037;17050722;16203088;15448108;21178826;19996110;18448607;18282491;18162370;17905097;11350415;23528019;22839415 20923384;14985763;11520933;12787574;16939974;8615794;7806500;9182757;10629055;16284401;11157096;19651702;19598235;19475530;19264868;19258923;19221293;19177265;19120874;19086053;19076929;19063739;19054925;19038341;19038326;19023688;18922683;18922682;18830907;18810245;18780967;18763222;18727839;18635195;18438945;18420729;18349121;18305571;18300262;18280641;18221326;18203754;18199526;18191449;18179783;18068123;17992191;17893397;17881264;17854142;17850422;17703412;17673289;17638883;17192954;17081983;16919030;16839849;16832412;16786155;16710414;16546643;16319926;16313302;16079148;15829579;15681836;15544837;15523689;15489334;15131306;14976160;14970904;14708938;14587217;12925217;12918708;12900521;12676754;12531456;12453472;12397373;12205295;11877300;11729324;10806167;10681572;10490030;10391209;10322959;9351801;8895847;8808283;8178451;7789166;6688123;6648531;6330750;6327169;3871525;2906326;2374737;2025430;1692298;1383421;16741963;15361847;10708862;15258592;12477932;20889312;22330829;10022904;10712923;10764727;11244088;11278287;11487608;11830582;12371150;12376548;12676795;12787561;14960584;15128850;15710408;15721744;16215275;16630834;16997282;17335080;19183217;19399531;19403065;19490633;19560628;19626992;19639490;19649262;19668232;19695094;19758188;19844736;19874574;19934806;19945432;19950533;19957796;20219210;20360245;20398908;20503287;9069267;9252186;9575168;9915784;20119692;20375017;20233324;20542022;20680101;20881126;20518854;20978020;21047631;21153361;21217078;20863878;22932111;23091165;23095849;21358750;22703891;20854189;21378097;21387003;21294249;21693611;21768088;21596795;21893340;21673280;22272270;21621608;11738045;18596692;22948388;16153003;21321391;22036954;22517242;21429417;21397006;22040304;22301435;22192858;22411587;22804708;22537619;23535911;23086522;22454143;23234779;22251933;22731611;17487982;23034254;22625872 4803 P01138 AB037517;ABBA01068473;AF150960;AF411526;AL049825;AL512638;AL606499;AMYH01000968;BC032517;BC126148;BC126150;BE045524;BT019733;CH471122;CR541855;M21062;NG_007944;NM_002506;V01511;X52599 AAA59931;AAD55975;AAH32517;AAI26149;AAI26151;AAL05874;AAV38538;ADR82879;BAA90437;CAA24755;CAA36832;CAG46653;EAW56629;NP_002497;P01138 Hs.2561 1655650;1736882;1736894;1736900;1736915;1741561;2127733;2178668;5492049 D1S2148;D1S2206;D1S2209;D1S2220;D1S3540;GDB:181532;NGFB;SHGC-75366;hsbngfac Beta-NGF;HSAN5;MGC161426;MGC161428;NGFB OTTHUMP00000013653;beta-nerve growth factor;nerve growth factor, beta polypeptide;nerve growth factor, beta subunit APPROVED protein-coding ENSG00000134259 7808 08874 162030 REVIEWED 1605389 NGRN neugrin, neurite outgrowth associated 15 15 15 q26.1 67213245 67219790 + 88609899 88616447 + 90808895 90815443 + 6480464 11118320;12477932;20186120;19616115 51335 Q9NPE2 AB029315;ABBA01053049;AC091167;AF225423;AF242770;AI865397;AK312641;AL355700;AL360142;AL834503;AMYH01006921;AY049780;BC001682;BC007222;BC009389;BC017192;BC019023;BC096824;BG716404;CD242640;CH471101;NM_001033088;NR_028052 AAF65447;AAG09725;AAH01682;AAH07222;AAH09389;AAH17192;AAH96824;AAL15437;BAB21533;BAG35525;CAB96088;CAD39160;EAX02096;EAX02097;EAX02098;EAX02099;NP_001028260;Q9NPE2 Hs.743961 1644832;2160047;2164438 A002P37;RH65266;SHGC-34665 DSC92 OTTHUMP00000194683;mesenchymal stem cell protein DSC92;neugrin;neurite outgrowth associated protein;neurite outgrowth-associated protein;spinal cord-derived protein FI58G protein-coding ENSG00000182768 18077 14825 VALIDATED 1320980 NGDN neuroguidin, EIF4E binding protein Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 3801578 3810079 + 23008738 23017242 + 23938898 23947402 + 6480464 18547334;16705177;16565220;15489334;14702039;12477932;17207965;19471022;21139048;21906983;22727665 25983 G3V4G1;G3V601;H0YJ17;H0YJQ1;Q8NEJ9 ABBA01061320;AK022215;AK124318;AK291875;AL050003;AL132855;AMYH01005604;BC030817;CH471078;NM_001042635;NM_015514 AAH30817;ACE87005;ACE87693;ADQ32098;BAF84564;CAB43232;EAW66147;EAW66149;NP_001036100;NP_056329;Q8NEJ9 Hs.9043 1695222;5121658 D14S1349;SHGC-62927 C14orf120;DKFZp564O092;LCP5;NGD;lpd-2 EIF4E-binding protein;OTTHUMP00000246242;OTTHUMP00000246390;OTTHUMP00000246398;eukaryotic initiation factor 4E and CPEB binding protein;neuroguidin APPROVED protein-coding ENSG00000129460 20271 610777 VALIDATED 735398 NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 X X q22.2 102517924 102519657 + 102631268 102633001 + 6480464;6907045 17355907;2171551;16777077;16189514;15958283;15772651;15489334;15178455;12739005;12477932;11830582;11278287;11238738;10764727;10544233;10514511;7757816;17207965;12787561;18029348;21139048 27018 Q00994;Q14991 ABBA01021043;ABBA01021044;AF187064;AK057859;AK315371;AL606763;AMYH01022798;AY833562;BC003190;BC051713;BE395284;CD048295;CH471190;HI179004;HI179006;HI179008;M38188;NM_014380;NM_206915;NM_206917 AAA63232;AAA63233;AAF75129;AAH03190;AAX40680;ADQ32371;BAG37764;CBX53811;CBX53812;CBX53813;EAW54710;EAW54711;EAW54712;NP_055195;NP_996798;NP_996800;Q00994 Hs.448588 1647674;2128371;2171526 D5S2593;DXS6984E;STS-M38188 BEX3;Bex;DXS6984E;HGR74;NADE OTTHUMP00000023741;OTTHUMP00000023742;OTTHUMP00000023743;OTTHUMP00000023744;brain expressed, X-linked 3;brain-expressed X-linked protein 3;nerve growth factor receptor-associated protein 1;ovarian granulosa cell 13.0 kDa protein HGR74;ovarian granulosa cell protein (13kD);p75NTR-associated cell death executor;protein BEX3 protein-coding ENSG00000166681 13388 02291 300361 VALIDATED 730911 NGFR nerve growth factor receptor Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008] 17 17 q21-q22 44927666 44947360 + 47572655 47592382 + 1580863;4891065;5144100;5144063;5144065;5144144;5144070;5144072;5144116;5144067;5144150;5508312;5508386;5508228;5508376;5508379;5508800;5508384;5508225;5508374;1642301;5508479;5508481;5508229;5508378;5508382;5508387;5508447;5508452;6480464;5508695;6907045 19824047;11223160;20060234;17673270;21136036;16603479;12540484;18647313;17576803;20973063;16519950;8866783;18780967;15274039;12469361;8762194;10025723;19334058;15795180;16497176;12653731;11829348;16704535;12741461;11689207;7807351;18189308;16586073;20943663 20549701;22343487;19225519;3022937;19258923;19240061;19177265;19169037;19131967;19086053;19072833;19066726;19041213;18566344;18540978;18477014;18470533;18462868;18428117;18394312;18319596;18305571;18221326;18203754;18196575;18081157;18036543;18029348;17971243;17947706;17850422;17703412;17696644;17619016;17603629;17582777;17531524;17510309;17492429;17357149;17349981;17287525;17196528;17110619;16951226;16893414;16826429;16555252;16460673;16344560;16215672;16099913;15784962;15721744;15701642;15681836;15523689;15489334;15378608;15337528;15310753;15165637;15015775;14985763;14966521;14689592;14593116;12963025;12913006;12821936;12821676;12789270;12768436;12716928;12682012;12672029;12604596;12477932;12460612;12422217;12414813;12163480;12107411;12034707;12011108;11927634;11818506;11487608;11244088;11150334;10985348;10764727;10545116;10544233;10514511;9927421;9915784;9867838;9665396;9368064;8889548;8627329;8614797;8407983;22610502;7903404;7541633;7541035;3020711;3008331;3006050;2989274;2850481;1846035;1324502;1316918;1281863;11279055;9626059;11729324;15953414;15694321;15258592;15131306;20596026;10022904;10485890;10595511;11201742;11278287;11830582;12371150;12376548;12426574;12676795;12692556;12787561;12843241;12951563;14960584;15128850;16215275;16498402;16630834;16997282;17335080;17986144;19301169;19386345;19490633;19598235;19758188;19918800;19945432;20022966;20219210;20237496;20351714;20503287;9252186;9575168;19615036;21982860;23260665;20680101;20530577;20659559;21097678;21343882;21178583;21123453;11756426;21307265;23065828;22932111;23105112;23105113;20854189;21393506;21142793;21151024;21503896;21900206;22068036;22161836;22635104;22706116;23268325;22236693;21938001;16113645;22138126;21397006;21807134;11756498;22207443;21418516;21851375;22419851;22558167;22566094;23300742;23616554;17355907;21814043;22454143;23471969;23600400;22710983;22040987 4804 B4E096;P08138 ABBA01041208;AC006487;AC015656;AK303278;AK313654;AMYH01008468;AMYH01008469;BC050309;BC052797;BQ639556;CH471109;CK299927;CS483670;DA115173;HI179096;M14764;M21621;NM_002507 AAA36363;AAB59544;AAH50309;BAG36408;BAG64358;CAM36380;CBX53856;EAW94677;NP_002498;P08138 Hs.415768;Hs.681726 1650960;1659866;1681506;1732770;1741389;1753809;2114112;2170975 D17S1169;D17S733;GDB:180972;NGFR;RH76193;RH78089;SHGC-108018;WI-18509 CD271;Gp80-LNGFR;TNFRSF16;p75(NTR);p75NTR NGF receptor;OTTHUMP00000220318;OTTHUMP00000220319;TNFR superfamily, member 16;low affinity nerve growth factor receptor;low affinity neurotrophin receptor p75NTR;low-affinity nerve growth factor receptor;p75 ICD;tumor necrosis factor receptor superfamily member 16 APPROVED protein-coding ENSG00000064300 7809 01197 162010 REVIEWED 1316494 NHLRC2 NHL repeat containing 2 10 10 10 q25.3 109341748 109399621 + 115604410 115658442 + 115614391 115672265 + 737633;1580863;6480464 12477932 14702039;16385451;16344560;22863883;21139048;21906983;21963094 374354 Q7Z658;Q8NBF2 ABBA01062988;AK000154;AK090631;AK098487;AK126751;AL162407;AL592546;AL627429;AL832090;AMYH01003082;BC013743;BC032598;BX538287;BX647641;BX647663;CH471066;DA821295;NM_198514 AAH32598;ADZ15924;BAA90979;BAC03493;BAC05316;CAD98082;EAW49486;EAW49487;EAW49488;NP_940916;Q8NBF2 Hs.369924;Hs.594372 1771733;1771735;1852633;5015861;5016478;5022200;5022450;7185938 A006A44;D10S16;D10S275;G20663;GDB:434012;L18426;SHGC-57721 DKFZp779F115;FLJ20147;FLJ25621;FLJ33312;MGC45492 1200003G01Rik;NHL repeat-containing protein 2;OTTHUMP00000020518;novel NHL repeat domain containing protein protein-coding 24731 14827 VALIDATED 1318334 NGLY1 N-glycanase 1 This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009] 3 3 3 p24.2 25697316 25768403 - 25735779 25799926 - 25760435 25831530 - 6480464;6907045 15358861;17015730;16807242;16055502;15610852;15489334;15362974;14749736;14702039;12477932;10831608;11562482;22575648;20668520;21832049;21139048;21890473;21906983;22318606;21963094;23000965;22190034;22505724 55768 C9JU75;H0Y2P2;Q96IV0;Q9NV10 AB209549;ABBA01025015;ABBA01025016;ABBA01025017;AC092798;AF250924;AK001867;AK022471;AK296047;AK310473;AL832748;AMYH01013037;BC000963;BC007226;BC017220;BQ017148;CH471055;DC329733;NM_001145293;NM_001145294;NM_001145295;NM_018297 AAF74720;AAH00963;AAH07226;AAH17220;ABM84435;ABM87500;BAA91950;BAD92786;BAG58811;EAW64363;EAW64364;EAW64365;EAW64366;NP_001138765;NP_001138766;NP_001138767;NP_060767;Q96IV0 Hs.368960 1679620;1735158;2139765;2162198;5014019;5015861;5024039;5109663;5124071;7185938 D10S16;D16S325;D3S2812E;D5S2354;D7S2067E;RH16673;RH79688;RH93712;SHGC-76781 CDG1V;FLJ11005;FLJ12409;PNG1;PNGase OTTHUMP00000208320;OTTHUMP00000208321;OTTHUMP00000208322;OTTHUMP00000208323;hPNGase;peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase;peptide:N-glycanase APPROVED protein-coding ENSG00000151092 17646 10118 610661;615273 REVIEWED 1321059 NHLH1 nescient helix loop helix 1 The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002] 1 1 1 q22 133405619 133411396 + 158603498 158609229 + 160336861 160342638 + 1580863;6480464 1328219;16344560;15489334;12878195;12477932;10603358;1729708;1528853;19322201 4807 Q02575;Q5T203 ABBA01016612;AK313700;AL445230;AMYH01001452;BC013789;BT006859;CH471121;DA612092;M96739;M97507;NM_005598 AAA58634;AAH13789;AAP35505;ACT64491;ACT64492;BAG36446;EAW52719;NP_005589;Q02575 Hs.30956 1686178 RH93953 HEN1;NSCL;NSCL1;bHLHa35 HEN-1;NSCL-1;OTTHUMP00000031860;class A basic helix-loop-helix protein 35;helix-loop-helix protein 1 APPROVED protein-coding ENSG00000171786 7817 01212 162360 VALIDATED 1602683 NHEJ1 nonhomologous end-joining factor 1 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008] 2 2 q35 219648292 219733767 - 219940046 220025587 - 6480464;6907045;7240710 16439205;16439204;19266077;19223975;19103754;18775323;18644470;18335491;18270339;18158905;18046455;17720816;17504121;17470781;17317666;17191205;16828027;16571728;16344560;15815621;15489334;14702039;12604777;12477932;17567543;18391952;19420065;19584075;19806195;20189936;20522537;20558749;20844317;20597108;21349273;21768349;21963094;23442139;22939629;21775435;21906983;22312109;21936820;22287571;22102241;21665306;23207905 79840 C9JWV4;F8WEB8;G5E9Q8;H7C0G7;Q9H9Q4 ABBA01023851;ABBA01023852;AC020575;AC068946;AC097468;AJ972687;AK022672;AMYH01011503;BC008210;BC012732;BC030986;CH471063;CR457291;DB124934;NG_007880;NM_024782 AAH08210;AAH12732;AAH30986;AAX88921;BAB14168;CAG33572;CAI99410;EAW70678;NP_079058;Q9H9Q4 Hs.225988 1649797;1798186;2136184 D2S2788;RH48754;SLC23A3_1795 FLJ12610;XLF Cernunnos;OTTHUMP00000164168;OTTHUMP00000206275;OTTHUMP00000206278;OTTHUMP00000206279;XRCC4-like factor;non-homologous end-joining factor 1;protein cernunnos APPROVED protein-coding ENSG00000187736 25737 07784 611290;611291 REVIEWED 1350688 NHLRC1 NHL repeat containing 1 The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010] 6 6 p22.3 18228697 18230830 - 18120718 18122851 - 1299634;6480464;6907045;7240710 12958597 19267391;19171932;19036738;18311786;18263761;18070875;18029386;17337485;16950819;16115820;15930137;15781812;15489334;14574404;12477932;20534808;17908927;19322595;19529779;19892702;20738377;20301563;22815132;21505799;21652633;21798009;21742036;22939624;22223637;21555062;22047982;18617530;22578008;22961547 378884 Q6VVB1 ABBA01022233;AL589723;AMYH01016122;AY324850;BC103888;BC103889;BC103890;BK001510;CH471087;NG_016750;NM_198586 AAI03889;AAI03890;AAI03891;AAQ19671;DAA01954;EAW55392;NP_940988;Q6VVB1 Hs.348351 2107439;5492813 NHLRC1__7158;UniSTS:482740 EPM2A;EPM2B;MALIN;MGC119262;MGC119264;MGC119265;bA204B7.2 E3 ubiquitin-protein ligase NHLRC1;NHL repeat-containing protein 1;OTTHUMP00000016074 APPROVED protein-coding ENSG00000187566 21576 06995 254780;608072 REVIEWED 1346349 NHP2P1 NHP2 ribonucleoprotein pseudogene 1 10 10 10 q23.32 87720588 87721344 + 93965935 93966892 + 93976049 93976812 + 414200 ABBA01021916;AL158040;AMYH01002947;NG_005297 1678743;1794970 PMC86556P1;RH12541 NOLA2P1;bA360G10.4 APPROVED pseudo 23582 INFERRED 3322379 NHP2P2 NHP2 ribonucleoprotein pseudogene 2 7 7 7 p15.2 27076677 27077431 + 27054279 27055033 + 27087754 27088508 + 442290 AACC02000007;ABBA01056755;AC004079;AMYH01017131;CH236948;NG_005298 1668699;1794970;1807222;1843214;2057882;2057884;2057886;2057888;2057890;2057892;2057894;2057896;2057898;2057900;2185008;2192038;2192040 ECD04579;ECD22815;GDB:1318547;PMC86556P1;REN100116;REN100117;REN100118;REN100119;REN100120;REN100121;REN100122;REN100123;REN100124;REN100125;WI-11218;stSG609269;stSG609270 TCAG_30283 APPROVED pseudo 22797 INFERRED 1605503 NHLRC3 NHL repeat containing 3 This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012] 13 13 13 q13.3 20666463 20678255 + 38510455 38522246 + 39612448 39624246 + 6480464 12477932;21890473;16344560 387921 C9J973;Q5JS37;Q68DP7 ABBA01021315;AK299198;AK300260;AL445590;AL833329;AMYH01005048;BC052492;BC140877;BC140878;BX647872;BX648122;CH471075;CR749318;DA772703;NM_001012754;NM_001017370;NR_073109 AAI40878;AAI40879;BAG61240;BAG62022;CAH10395;CAH18173;EAX08612;EAX08613;EAX08614;EAX08615;NP_001012772;NP_001017370;Q5JS37 Hs.507783 1654131;1676628;2124475;2145323;5021872;5037552 D8S2279;RH94263;STS-N25548;STS-R01127;STS-W94901;sY3084 DKFZp313M1221;DKFZp686E1140 NHL repeat-containing protein 3;OTTHUMP00000018294;OTTHUMP00000214953 APPROVED protein-coding ENSG00000188811 33751 18377 REVIEWED 6481387 NHS-AS1 NHS antisense RNA 1 100873920 Z93022 APPROVED miscrna 40403 1317985 NHLH2 nescient helix loop helix 2 1 1 1 p12-p11 114607811 114612562 - 116180521 116185270 - 116378998 116383747 - 1580863 1328219;16710414;16344560;15930276;15489334;14702039;12477932;9455484;1528853;18815487;19898481;23026212;21573214;22354994;16314316 4808 A6PVY9;Q02577 AA166895;AB007959;ABBA01068480;AK056621;AK312849;AL449264;AMYH01000969;BC028729;BC096359;BC096360;CH471122;DA608185;M96740;M97508;NM_001111061;NM_005599 AAA58635;AAH96359;AAH96360;BAG35702;EAW56637;EAW56638;NP_001104531;NP_005590;Q02577 Hs.46296 1757651;2220426 SHGC-146153;UniSTS:481764 HEN2;KIAA0490;NSCL2;bHLHa34 HEN-2;NSCL-2;OTTHUMP00000013748;OTTHUMP00000196793;OTTHUMP00000196794;class A basic helix-loop-helix protein 34;helix-loop-helix protein 2 1643449 BW98_H protein-coding ENSG00000177551 7818 01213 162361 VALIDATED 1602637 NHLRC4 NHL repeat containing 4 16 16 16 p13.3 817438 819901 + 557033 559496 + 617032 619495 + 14702039;12477932;15489334;15616553 283948 P0CG21 ABBA01030362;AK093527;AMYH01006996;BC032015;BC048340;BC113527;BC113529;CH471112;NM_176677;Z97986;Z98883 AAI13528;AAI13530;BAC04193;EAW85801;NP_788850;P0CG21 Hs.664267 5493405 UniSTS:486097 FLJ36208 NHL repeat containing 4;NHL-repeat-containing protein 4;OTTHUMP00000237689;OTTHUMP00000237690 APPROVED protein-coding ENSG00000257108 26700 11681 PROVISIONAL 6481361 NICN1-AS1 NICN1 antisense RNA 1 100874017 AC104452 APPROVED miscrna 40838 1353844 NICN2P nicolin 2, pseudogene X X X p11.3-p11.22 51323745 51329211 - 47016384 47018905 - 47128504 47133961 - 12392556 171176 ABBA01052323;ABBA01052324;ABBA01052325;AL591503;AMYH01022259;NG_005534 pseudo 18322 INFERRED 1603499 NHSL2 NHS-like 2 X X X q13.1 71474914 71707604 + 71270224 71277937 + 71130938 71363424 + 6480464 12477932 340527 D6RBM4;F5H593;Q5HYW2 ABBA01046170;ABBA01046171;ABBA01046172;ABBA01046173;ABBA01046174;ABBA01046175;ABBA01046176;ABBA01046177;ABBA01046178;ABBA01046179;ABBA01046180;ABBA01046181;ABBA01046182;ABBA01046183;ABBA01046184;ABBA01046185;ABBA01046186;ABBA01046187;AL929401;AMYH01022553;BC033261;BC136756;BX119917;NG_029583;NM_001013627 AAI36757;NP_001013649;Q5HYW2 Hs.397836 2134741;2151723;2153037;2159528;2168073;2176655;2181628;2183788;5093504 A007B16;A009P47;AF020216;AFMa295yf9;AFMb043zh1;DXS7123;DXS9787;G32757;L78114 RP11-262D11.5 NHS-like protein 2 protein-coding ENSG00000204131 33737 15001 VALIDATED 1349811 NHSL1 NHS-like 1 6 6 6 q23.3 139483315 139633785 - 138782730 138862324 - 138743180 138893668 - 6480464 15466011;12477932;10718198 57224 E9PAK2;E9PMJ0;H0YDF6;Q5SYE7 AB037778;ABBA01025808;ABBA01025809;AK000699;AK025199;AK025347;AK299585;AK307584;AL391669;AL590611;AL590617;AL591375;AMYH01016703;BC020940;BC045181;BX647246;CH471051;NM_001144060;NM_020464 AAH45181;BAA92595;BAG61520;EAW47916;NP_001137532;NP_065197;Q5SYE7 Hs.652741 1646262;1646264;1665540;2155378;2163190;2169020;2181434;2182200;5016596;5037552;5114710 A001U09;D6S1437;D8S2279;G19653;GDB:631802;RH44978;RH46853;RH48356;RH69281;STS-T35695;WI-17933 C6orf63;KIAA1357 NHS-like protein 1;OTTHUMP00000017937;OTTHUMP00000017938;OTTHUMP00000236390 protein-coding ENSG00000135540 21021 VALIDATED 1349833 NIDDM1 non-insulin-dependent diabetes mellitus (common, type 2) 1 7240710 8640221 4812 7822 601283 1351836 NIDDM2 non-insulin-dependent diabetes mellitus (common, type 2) 2 7240710 8782826 4813 1298293;1341685 D12S1052;D12S375 7823 1352036 NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2008] X X p22.13 17303464 17664035 + 17393543 17754114 + 1598795;6480464;7240710 16736028 18949062;17417607;17081983;16964243;16675532;15772651;15623749;15466011;14564667;12173028;10394933;1971992;20332100;12477932;19414485;19913121;20628086;21559051;22544364;22229851;10588643;14595111 4810 Q6T4R5 ABBA01071536;ABBA01071537;ABBA01071538;ABBA01071539;ABBA01071540;ABBA01071541;ABBA01071542;ABBA01071543;ABBA01071544;ABBA01071545;ABBA01071546;ABBA01071547;ABBA01071548;ABBA01071549;ABBA01071550;ABBA01071551;ABBA01071552;ABBA01071553;ABBA01071554;ABBA01071555;ABBA01071556;ABBA01071557;ABBA01071558;ABBA01071559;ABBA01071560;ABBA01071561;ABBA01071562;ABBA01071563;ABBA01071564;ABBA01071565;ABBA01071566;ABBA01071567;ABBA01071568;ABBA01071569;ABBA01071570;ABBA01071571;ABBA01071572;ABBA01071573;ABBA01071574;ABBA01071575;ABBA01071576;AC122692;AK302437;AL034404;AL845433;AMYH01022117;AMYH01022118;AMYH01022119;AY436752;AY456992;AY456993;BC136415;BC171763;BQ017161;BX294650;CR749300;CR936788;GQ988776;NG_011553;NM_001136024;NM_198270;Z93022;Z93242 AAI36416;AAI71763;AAR03104;AAS13455;AAS13456;ADN85614;BAH13708;CAH18155;NP_001129496;NP_938011;Q6T4R5 Hs.201623 1339197;1340456;1656337;1662183;1676610;1702472;1702530;1702678;1714567;1740341;1769641;1774784;2127071;2139649;2147030;2148707;2153068;7185136 DXS1195;DXS1317;DXS418;DXS43;DXS6747;DXS7174;DXS7175;DXS7661;DXS7670;DXS7991;DXS7993;DXS8019;DXS8184;G09285;L77751;RH119797;RH93889 CTRCT40;CXN;DKFZp781F2016;DKFZp781L0254;FLJ22511;SCML1 Nance-Horan syndrome protein;OTTHUMP00000024417;OTTHUMP00000226877;congenital cataracts and dental anomalies protein APPROVED protein-coding ENSG00000188158 7820 02351 300457;302200;302350 REVIEWED 1319777 NHP2 NHP2 ribonucleoprotein This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] 5 5 q35.3 177509070 177513567 - 177576464 177580961 - 1580863;6480464;6907045 18523010;15889794;15814878;15635413;15489334;15044956;14702039;12477932;12429849;12020816;11790298;11074001;11042152;9847074;9843512;19095616;21145461;21628590;18482256;19615732;20008900;20098747;18082603;19850743;20360068;22178446;19471022;19953087;21139048;21693764;22939629;19738201;21963094;21988832;22944692 55651 D6RC52;D6RCB9;H0YC83;J3QSY4;Q9NX24 ABBA01009989;AC136632;AF161404;AF401217;AF401219;AJ293309;AK000486;AMYH01015938;BC000009;BC006387;BE797477;BG827491;BM913344;CH471165;CR457238;NG_011765;NM_001034833;NM_017838 AAF28964;AAH00009;AAH06387;AAL02173;AAL02175;BAA91198;CAC08452;CAG33519;EAW53848;NP_001030005;NP_060308;Q9NX24 Hs.744074 1678743;1685417;1794970;2132626;5091006 A006X22;A008D19;PMC86556P1;RH12541;RH98314 DKCB2;NHP2P;NOLA2 H/ACA ribonucleoprotein complex subunit 2;NHP2 ribonucleoprotein homolog;NHP2-like protein;OTTHUMP00000161486;OTTHUMP00000223997;OTTHUMP00000223998;OTTHUMP00000223999;nucleolar protein family A member 2;nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs);snoRNP protein NHP2 APPROVED protein-coding ENSG00000145912 14377 07570 606470;613987 REVIEWED 1350970 NICN1 nicolin 1 This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49424553 49431543 - 49434770 49441761 - 49459766 49466757 - 1580863;6480464 15489334;14702039;12487019;12477932;12392556;20821255;19692168;20307617 84276 B2R7Q3;B4DX77;Q9BSH3 ABBA01024587;AC104452;AF538150;AJ299740;AK094248;AK301846;AK313073;AMYH01013158;BC005050;BC050653;CH471055;NG_033046;NM_032316 AAH05050;AAH50653;AAN52734;ADZ15953;BAG35900;BAG52849;BAG63289;CAC82516;EAW64987;EAW64988;NP_115692;Q9BSH3 Hs.191460 1858464;5015619;5015961;5016596;5037552 A002R20;D11S3114;D15S1477;D8S2279;GDB:631802 MGC12936 NPCEDRG;OTTHUMP00000210795;OTTHUMP00000210796;OTTHUMP00000210797;OTTHUMP00000210798;OTTHUMP00000238581;PGs5;nicolin-1;tubulin polyglutamylase complex subunit 5 APPROVED protein-coding ENSG00000145029 18317 17631 611516 REVIEWED 1347136 NHP2L1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13 40399883 40414859 - 42069937 42084913 - 1580863;6480464;6907045 21145461;21319273;10593953;12226669;8978773;18044964;16169070;15635413;15489334;15461802;12477932;12417735;12203836;12011111;11790298;11163207;10591208;10545122;9114055;12429849;17412961;17636026;17643375;19620283;22939629;22863883;12777385;20360068;21139048;21890473;21906983;22178446;16344560;21628590;16723661;22190034;22505724 4809 B1AHD1;P55769;Q6FHM6 ABBA01055651;AF091076;AF155235;AK311800;AMYH01012804;BC005358;BC019282;BC095439;BG164621;BI770951;CF552526;CH471095;CQ840914;CR456531;CR541725;D50420;DB021462;FB353524;NM_001003796;NM_005008;Z83840 AAC72945;AAF06959;AAH05358;AAH19282;AAH95439;BAA23363;BAG34743;CAG30417;CAG46526;CAH05699;CAK54562;CAK54861;CAR82348;EAW60450;EAW60451;EAW60452;EAW60453;NP_001003796;NP_004999;P55769 Hs.182255 1653609;1688955;1852702;2147061 IB1149;RH15753;RH47477;SHGC-7075 15.5K;FA-1;FA1;NHPX;OTK27;SNRNP15-5;SNU13;SPAG12;SSFA1 NHP2-like protein 1;OTTHUMP00000199328;OTTHUMP00000199329;OTTHUMP00000199330;U4/U6.U5 tri-snRNP 15.5 kDa protein;[U4/U6.U5] tri-snRNP 15.5 kD RNA binding protein;high mobility group-like nuclear protein 2 homolog 1;non-histone chromosome protein 2-like 1;small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5);sperm specific antigen 1 APPROVED protein-coding ENSG00000100138 7819 03197 601304 REVIEWED 1323271 NID2 nidogen 2 (osteonidogen) This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010] 14 14 14 q22.1 32338519 32403077 - 51541270 51605696 - 52471520 52535946 - 1580863;6480464 9733643;17903307;17328794;17008882;16344560;12477932;12475645;12005023;11956183;11733994;10544250;8889548;10772929;11493006;11847210;15231748;19883638;21558411;21815147 22795 H0YJV3;Q14112 AB009799;ABBA01018162;AJ223500;AK291652;AK298542;AK300462;AL118557;AL358333;AL701794;AMYH01005728;AMYH01005729;AU119925;BC035608;BM719690;BX648241;CA413165;CH471078;D86425;NM_007361 AAH35608;BAA13087;BAA24112;BAF84341;BAG60740;BAG62181;CAA11418;CAI56714;EAW65658;NP_031387;Q14112 Hs.369840 1339651;1652108;1667507;1736456;1753993;1856165;2108843;2135439 D14S1018;D14S1197;D14S1201;D14S713E;D14S836;HUM0S17C09;NID2_9269;SHGC-132026 NID-2 OTTHUMP00000178985;nidogen-2;osteonidogen APPROVED protein-coding ENSG00000087303 13389 05654 605399 REVIEWED 1345024 NIP1L NIP1 nuclear import protein-like (S. cerevisiae) 4816 7826 1604515 NIM1 serine/threonine-protein kinase NIM1 5 5 5 p12 43083987 43171889 + 43228084 43316709 + 43192170 43280952 + 6480464 15733851;15489334;14702039;12477932;21832049 167359 Q8IY84 ABBA01024255;ABBA01024256;AC106800;AC114947;AK122985;AMYH01015056;AMYH01015057;BC036422;CH471119;DA778478;NM_153361;NR_072980 AAH36422;ABM82568;ABM85757;BAG53833;EAW56050;EAW56051;EAW56052;EAW56053;NP_699192;Q8IY84 Hs.25845 1660554;1685842;1737317;1785730;2139238 D13S924;D5S601;RH15960;RH25754;SHGC-80869 MGC42105 OTTHUMP00000161798;OTTHUMP00000221636;serine/threonine-protein kinase NIM1 APPROVED protein-coding ENSG00000177453 14618 VALIDATED 737172 NID1 nidogen 1 This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008] 1 1 q43 234205753 234295104 - 236139130 236228481 - 1580863;6480464 17328794;17008882;16710414;16344560;15489334;15231748;15146197;12931195;12477932;12180907;12005023;11956183;11847210;11733994;11574465;11493006;11419941;11376898;9733643;9686320;9647658;9501082;9299350;9278415;8995276;8831898;8354280;7867626;7557988;2506015;2471408;2180767;2119632;1906509;1680863;1499567;10772929;7500359;2574658;16574105;21478494;22268729;22952693 4811 P14543 AB209448;ABBA01033149;ABBA01033150;ABBA01033151;AK297234;AL122018;AL139161;AMYH01001852;BC012501;BC045606;BQ549657;CH471098;CN267119;DA269707;DN999415;M27445;M30269;NG_033228;NM_002508;X82245 AAA57261;AAA59932;AAH45606;BAD92685;BAG59717;CAA57709;EAW70039;EAW70040;EAW70041;NP_002499;P14543 Hs.356624 1718381;1754881;1776358;2116571;2116573;2126630;2181340;2190351;2218572 A005W43;AL009616;CTC-USP-BR001;D1S2389;G20558;NID_942.2;RH122964;SHGC-141812;SHGC-76550 NID NID-1;OTTHUMP00000037970;OTTHUMP00000038291;enactin;entactin;nidogen (entactin);nidogen-1 APPROVED protein-coding ENSG00000116962 7821 00574 131390 REVIEWED 7241715 NIP7P1 NIP7, nucleolar pre-rRNA processing protein pseudogene 1 389997 ABBA01021881;AL159171;AMYH01002955;CH471066;NG_023276 EAW50077 1726811 G62795 pseudo 45180 VALIDATED 7241716 NIP7P2 NIP7, nucleolar pre-rRNA processing protein pseudogene 2 646392 ABBA01059186;AC020633;AMYH01013501;NG_022272 pseudo 45181 INFERRED 7241750 NIP7P3 NIP7, nucleolar pre-rRNA processing protein pseudogene 3 100421245 ABBA01026047;AL121963;AMYH01016616;NG_025858 pseudo 45182 INFERRED 1321170 NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 2 2 2 q33 195508680 195523285 + 201462391 201476898 + 201754050 201768655 + 6480464 15163635;16713569;16189514;15489334;15342556;14702039;12951069;12522100;12477932;11161814;11124544;8889548;8125298;19060904;20877624;22863883;22939629;21139048;21890473 60491 B8ZZI0;C9JN42;E7EXA3;H7C1A8;Q9GZT8 AB038949;ABBA01062524;AC005037;AF060513;AF182416;AF283538;AK023378;AK225905;AK314709;AL834430;AMYH01011400;AY251943;AY251944;BC007654;BG724012;BM974977;BP194872;CH471063;NM_001136039;NM_001142355;NM_001142356;NM_021824 AAG14952;AAG43131;AAG44846;AAH07654;AAP84063;AAP84064;AAY14724;ABM87611;BAB14551;BAB32499;CAH56370;EAW70224;EAW70225;EAW70226;EAW70227;NP_001129511;NP_001135827;NP_001135828;NP_068596;Q9GZT8 Hs.145284 1664543;1850842 RH12100;RH45475 ALS2CR1;CALS-7;MDS015 NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1;NIF3-like protein 1;OTTHUMP00000206189;OTTHUMP00000206190;OTTHUMP00000206191;OTTHUMP00000206192;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 1;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein APPROVED protein-coding ENSG00000196290 13390 10424 605778 VALIDATED 5133101 NIPA2P1 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1 7 7 7 q21.13 85654065 85655260 - 90787393 90788225 - 90949314 90950509 - 9847074 100132321 AACC02000015;ABBA01045822;ABBA01045823;AC095042;AMYH01017684;CH236949;NG_021278 pseudo 42041 INFERRED 1606742 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008] 15 15 q11.2 20594720 20637877 - 23043279 23086843 - 6480464;7240710 19091982;18191948;17928003;17420921;17205300;17166836;16982806;16335952;16267846;15711826;15643603;14508710;14508708;12805275;12477932;8618696;7825577;22378146;20685689;19620182;20398908;21419568;21599812 123606 H0YLJ9;H0YLP7;H0YMY7;Q3SYP4;Q7RTP0;Q8TAY1 AB089319;ABBA01040245;ABBA01040246;AC011767;AK057846;AK314073;AMYH01006380;AMYH01006381;AMYH01006382;BC025678;BC103705;BK001020;BX648722;CH471258;CQ834740;NG_009056;NM_001142275;NM_144599 AAH25678;AAI03706;AAI56248;AAI72484;ABM82178;ABM85364;BAC67707;BAG36773;CAH05585;CAI45979;DAA01477;EAW65549;EAW65550;EAW65551;NP_001135747;NP_653200;Q7RTP0 Hs.511797 2106631;2133726;2133728;2153755;2173754 A002B45;D15S912;G19907;RH11248;SPG6__5293 FSP3;MGC102724;MGC35570;SPG6 OTTHUMP00000159352;magnesium transporter NIPA1;non-imprinted in Prader-Willi/Angelman syndrome 1;non-imprinted in Prader-Willi/Angelman syndrome region protein 1;spastic paraplegia 6 protein APPROVED protein-coding ENSG00000170113 17043 10487 600363;608145 REVIEWED 737046 NINJ1 ninjurin 1 The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009] 9 9 9 q22 66325478 66338278 - 94923592 94936391 - 95883771 95896570 - 729059;1580863;6480464 8780658 9261151;18676680;18504448;17893696;17825431;15489334;15464245;15164053;14702039;12477932;9465296;19170196;19625176;19692168;22162058;22326538 4814 Q92982 ABBA01018604;AF029251;AK094530;AL451065;AMYH01021512;BC000298;BC004440;BC019336;BC048212;BT007164;CH471089;NM_004148;U72661;U91512 AAB17560;AAC14593;AAC39574;AAH00298;AAH04440;AAH19336;AAH48212;AAP35828;EAW62856;NP_004139;Q92982 Hs.494457 2109559;2159216;5019046 G43535;NINJ1_8505;RH41811 NIN1;NINJURIN OTTHUMP00000021670;nerve injury-induced protein 1;nerve injury-induced protein-1;ninjurin-1 APPROVED protein-coding ENSG00000131669 7824 03639 602062 VALIDATED 5133161 NIPA2P2 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2 3 3 3 p12.3 75070088 75071627 + 75082959 75216972 + 75132871 75134410 + 100130204 ABBA01030983;AC119043;AC130003;AMYH01013286;NG_021276 pseudo 42042 VALIDATED 5133144 NIPA2P4 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4 8 8 78534353 78535451 - 82529382 82530480 - 100421776 ABBA01004052;AC090255;AMYH01018830;NG_026045 pseudo 42044 INFERRED 6480927 NIPA2P5 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5 13 79664900 79665309 + 100874488 ABBA01021685;AL161892;AMYH01005226;NG_032396 pseudo 42045 INFERRED 1315140 NIN ninein (GSK3B interacting protein) This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008] 14 14 q22.1 50256231 50367589 - 51186481 51297839 - 6480464 15147888;16154161;12927815;17698918;17383637;17102634;16254247;15784680;15489334;15190203;15087377;15048123;14702039;14503922;12477932;12403812;12168954;11956314;11162463;11004522;10997877;9506584;8889548;17139249;19615732;20056645;20125193;20379614;20508983;21325031;21667027;21139048;19322201;21628590 51199 C9J066;E9PJH9;E9PN67;F8W6D3;H0YDJ4;H7C162;H9KV85;Q5XUU0;Q9UH61;R4GN85 AA742651;AB046785;ABBA01018142;ABBA01018143;ABBA01018144;AF186776;AF212162;AF223937;AF223938;AF223939;AF302773;AK025652;AK026083;AK027054;AL133485;AL359571;AL606834;AMYH01005723;AW505195;AY027794;AY027795;AY027796;AY736182;AY736183;BC034708;BC065521;BC090932;BM721510;CB241926;CH471078;CR993064;NG_032968;NM_016350;NM_020921;NM_182944;NM_182946 AAF23015;AAG17027;AAG33512;AAH34708;AAH65521;AAH90932;AAK00628;AAK00629;AAK00630;AAK27375;AAK27376;AAK27377;AAU86898;AAU86899;BAB13391;BAB15640;EAW65692;EAW65693;EAW65694;EAW65695;EAW65696;EAW65697;EAW65698;EAW65699;EAW65700;EAW65701;NP_057434;NP_065972;NP_891989;NP_891991;Q8N4C6 Hs.310429;Hs.569387 1663331;1679441;1688630;1700306;1701248;1725941;1776306;1982994;2109561;2120812;2154599 G62247;NIN_9684;REN62397;RH103773;RH104252;RH44954;RH65693;RH93653;RH98864;SHGC-32079;STS-R14959 KIAA1565;SCKL7 GSK3B-interacting protein;OTTHUMP00000028272;OTTHUMP00000195017;OTTHUMP00000195510;OTTHUMP00000236249;OTTHUMP00000236253;OTTHUMP00000236255;glycogen synthase kinase 3 beta-interacting protein;hNinein;ninein;ninein centrosomal protein APPROVED protein-coding ENSG00000100503 14906 09785 608684;614851 REVIEWED 1352493 NINJ2 ninjurin 2 The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011] 12 12 12 p13 2279829 2378935 - 543723 643016 - 673462 772755 - 724399;1580863;6480464 10627596 19369658;17081983;15489334;12477932;20410525;20957003;22297388;17192395;22429733;22795341;21674003;21376321;21722921 4815 B4DNS9;F5H3L1;F8WBZ3;Q9NZG7 ABBA01048841;ABBA01048842;ABBA01048843;ABBA01048844;ABBA01048845;ABBA01048846;ABBA01048847;AC006205;AC021054;AF205633;AK296012;AK315995;AMYH01004168;BC057766;BI597990;CH471116;NM_016533 AAF42828;AAH57766;AAI48621;AAI53187;BAG58783;BAH14366;EAW88959;EAW88960;NP_057617;Q9NZG7 Hs.656450 1673885;1687904;1693850;1757079;2129153 D12S122;D12S2119;G42614;RH91262;SHGC-144469 FLJ56349 OTTHUMP00000115360;nerve injury-induced protein 2;ninjurin-2 APPROVED protein-coding ENSG00000171840 7825 09530 607297 VALIDATED 5133163 NIPA2P3 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3 21 21 21 q21.1 6162498 6173520 + 19914887 19915685 + 20993066 21004088 + 100128057 ABBA01057147;AMYH01012156;AP000403;NG_021277 pseudo 42043 INFERRED 1604826 NINL ninein-like 20 20 p11.22-p11.1 25381337 25514153 - 25433337 25566153 - 6480464 18029348;18826961;18538832;17403670;16254247;15489334;14702039;12852856;12477932;11780052;10231032;16169070;16189514;11076968;12221128;16462731;19509300;19724857;20093778;7790358;20864540;20890132;21505454;22353935 22981 H0Y2V7;Q9Y2I6 AB023197;ABBA01048716;ABBA01048717;ABBA01048718;AI024623;AK021854;AK093569;AK293991;AK309298;AL031672;AL161802;AMYH01011789;BC036380;CH471133;EU718622;NM_025176 AAH36380;ACE78295;BAA76824;BAB13914;BAH11644;EAX10082;EAX10083;EAX10084;EAX10085;EAX10086;NP_079452;Q9Y2I6 Hs.631508 1685127;1686368;1687441;1694460;1721045;1784352;2180617;5015961;5022578 D15S1477;D1S1423;G18114;G42950;G59504;RH78164;RH80509;RH92230;SHGC-106893 FLJ11792;KIAA0980;NLP;dJ691N24.1 OTTHUMP00000043419;ninein-like protein protein-coding ENSG00000101004 29163 11120 609580 VALIDATED 732109 NIP7 NIP7, nucleolar pre-rRNA processing protein 16 16 16 q22.1 53888086 53891549 + 67931047 67934510 + 69373415 69377014 + 6480464 19322201;21628590;22195017;14660641;17643419;16341674;16189514;15635413;15522784;15489334;14702039;12477932;12429849;12417987;11042152;10810093;20798176;21139048;21890473;21906983;23000965 51388 J3QLW7;J3QRD6;J3QRR4;Q9Y221 AB062398;AB062479;AB112439;ABBA01025527;AC026464;AF085360;AF132971;AF161528;AK001158;AK315355;AMYH01007767;AW001672;BC015941;BM754629;CH471092;DB453898;DR423435;HH770973;NG_009013;NM_001199434;NM_016101 AAD27746;AAD40195;AAF29143;AAH15941;ABM82037;ABM85217;BAB93485;BAB93504;BAD05056;BAG37751;BAG50861;CBX86193;EAW83270;EAW83271;NP_001186363;NP_057185;Q9Y221 Hs.744220 1675425;1690234;1697840 RH102445;RH92410;RH94251 CGI-37;FLJ10296;HSPC031;KD93 60S ribosome subunit biogenesis protein NIP7 homolog;OTTHUMP00000174889;nuclear import 7 homolog;saccharomyces cerevisiae nip7p homolog APPROVED protein-coding ENSG00000132603 24328 16709 VALIDATED 1605636 NIPAL2 NIPA-like domain containing 2 8 8 8 q22.2 95390258 95492501 - 99273563 99375797 - 99204387 99306621 - 6480464 15317751;14702039;12477932;23400010 79815 A2RTY8;Q9H841 ABBA01037536;ABBA01037537;AK024017;AK302414;AMYH01018917;AP003438;AP003439;BC132687;BC144055;CH471060;JA738643;NM_024759 AAI32688;AAI44056;BAB14779;BAG63722;CCF76974;EAW91777;EAW91778;EAW91779;NP_079035;Q9H841 Hs.309489 1336836;2148571;7186788 D8S1452;D8S506 FLJ13955;NPAL2 NIPA-like protein 2;OTTHUMP00000227185;OTTHUMP00000227186 protein-coding 25854 08591 PROVISIONAL 2306343 NIPAL4 NIPA-like domain containing 4 This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010] 5 5 5 q33.3 152913590 152928293 + 156819605 156834308 + 156887027 156901730 + 6480464;7240710 19197536;17557927;16344560;15317751;12477932;9110174;8619474;19423540;20016120;20406964;20438785;22622417;22258272;22098531;20301593 348938 H0YC31;Q0D2K0 ABBA01044270;AC008676;AF131815;AK026158;AK296972;AK308830;AK309242;AMYH01015748;BC105708;BC105709;BC105710;DB153698;DC348015;NG_016626;NM_001099287;NM_001172292 AAI05709;AAI05710;AAI05711;AAI60182;BAG59515;NP_001092757;NP_001165763;Q0D2K0 Hs.4285 1851676 A004U21 ARCI6;ICHTHYIN;ICHYN NIPA-like protein 4;OTTHUMP00000224097;OTTHUMP00000224098;magnesium transporter NIPA4;non-imprinted in Prader-Willi/Angelman syndrome region protein 4;nonimprinted in Prader-Willi/Angelman syndrome region protein 4 APPROVED protein-coding ENSG00000172548 28018 609383;612281 REVIEWED 1348761 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010] 15 15 15 q11.2 1345448 1375128 + 20556788 20585849 - 23004684 23034427 - 1580863;6480464 16982806;15489334;15317751;15067324;14702039;14508708;12477932;8619474;16344560;19328872;19940067;22367439;21139048 81614 H0YMQ7;Q8N8Q9 ABBA01040247;ABBA01040248;ABBA01040249;ABBA01040250;ABBA01040251;AC011767;AK096305;AK300843;AK313584;AMYH01006380;AY732242;BC000957;BC011775;BK001120;BM544162;CH471258;DA082125;NG_021303;NM_001008860;NM_001008892;NM_001008894;NM_001184888;NM_001184889;NM_030922;R56244;U90904 AAH00957;AAH11775;AAU34000;ADZ15723;BAC04757;BAG62494;DAA01509;EAW65552;EAW65553;EAW65554;NP_001008860;NP_001008892;NP_001008894;NP_001171817;NP_001171818;NP_112184;Q8N8Q9 Hs.591003 1682143;1685319;1685668;1694760;1736506;2176035;2181976;2219180 D15S714E;G43583;HSC15C102;NIB1540;NIPA2__6056;RH64908;RH91787;RH94274 MGC5466 OTTHUMP00000159354;magnesium transporter NIPA2;non-imprinted in Prader-Willi/Angelman syndrome region protein 2 APPROVED protein-coding ENSG00000140157 17044 16290 608146 REVIEWED 1602833 NIPAL1 NIPA-like domain containing 1 4 4 4 p12 48467642 48487933 + 47713548 47733841 + 48018791 48039084 + 6480464 15489334;14702039;12477932 152519 D6RIY2;H0Y8W0;Q6NVV3 ABBA01014340;AC096749;AK095299;AL832997;AMYH01014159;BC067881;CH471069;CR749484;NM_207330 AAH67881;BAG53022;CAH18311;EAW93050;NP_997213;Q6NVV3 Hs.134190 1690892;5015619 D11S3114;SHGC-67282 DKFZp686A06115;NPAL1 NIPA-like protein 1;OTTHUMP00000158786;OTTHUMP00000223078;magnesium transporter NIPA3;non-imprinted in Prader-Willi/Angelman syndrome region protein 3 protein-coding 27194 14096 PROVISIONAL 1346727 NIT2 nitrilase family, member 2 3 3 3 q12.2 98444355 98465336 + 101536258 101556883 + 100053562 100074478 + 737633;6480464;6907045 12477932 17488281;16341674;10959838;8125298;22939629;18029348;21139048;22674578 56954 F8WF58;F8WF70;H7C579;Q9NQR4 ABBA01061789;AC093003;AF260334;AF284574;AK225979;AK294010;AK313704;AMYH01013357;BC020620;BC107890;BM748852;CH471052;DB466042;NM_020202 AAF87103;AAG44665;AAH20620;AAI07891;ABM84061;ABM87415;BAG36450;BAG57372;EAW79824;EAW79825;NP_064587;Q9NQR4 Hs.439152 1773909;2160634 SHGC-77149;SHGC-77154 MGC111199 Nit protein 2;OTTHUMP00000213986;nitrilase homolog 2;omega-amidase NIT2 protein-coding ENSG00000114021 29878 17634 VALIDATED 1603619 NIPAL3 NIPA-like domain containing 3 1 1 1 p36.12-p35.1 23069398 23126647 + 24614903 24671997 + 24742245 24799473 + 6480464 16710414;16344560;15489334;12477932;9110174;8619474;19738379;19322201 57185 A6NN97;H0Y4I9;Q6P499 ABBA01059904;ABBA01059905;AF131814;AK312433;AL031431;AMYH01000369;BC001265;BC012492;BC063583;BX538110;BX640883;CH471134;DA223169;NM_020448;U90918 AAH01265;AAH12492;AAH63583;BAG35342;CAD98023;CAE45938;EAW95130;NP_065181;Q6P499 Hs.523442 1649542;1651923;1661922;1670853;1691824;1708426;2151758;2164992;2171796;5016851 1824;A008W14;AL033965;D1S3513;RH69442;RH80031;SGC30617;SHGC-74404;SHGC-74408;SHGC-83510 DJ462O23.2;DKFZp686E22155;NPAL3;RP3-462O23.3 NIPA-like protein 3;OTTHUMP00000003338;OTTHUMP00000003341;OTTHUMP00000179078 protein-coding 25233 13149 VALIDATED 1348563 NIPSNAP3B nipsnap homolog 3B (C. elegans) NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] 9 9 9 q31.1 78031768 78041600 + 106566272 106576112 + 107526451 107536291 + 737633;6480464 12477932 15489334;15177564;14702039;11352567;17207965;20877624;23505323;23251661 55335 F2Z3L7;Q9BS92 ABBA01042831;AF287262;AK002137;AK310397;AL359846;AMYH01021596;BC005202;BC017914;BX647652;CH471105;NM_018376 AAH05202;AAH17914;AAK43527;ADQ31882;BAA92101;EAW58991;NP_060846;Q9BS92 Hs.429294 5017843 NIPSNAP3A FLJ11275;NIPSNAP3 OTTHUMP00000021829;OTTHUMP00000021830;SNAP1;protein NipSnap homolog 3B APPROVED protein-coding ENSG00000165028 23641 16400 608872 PROVISIONAL 4145484 NKAIN1P1 Na+/K+ transporting ATPase interacting 1 pseudogene 1 1 q21 148863847 148865185 - 100462647 AL592492;AMYH01001371;FP700107;NG_021262 FLJ39739 pseudo 38593 INFERRED 1352624 NIPSNAP3A nipsnap homolog 3A (C. elegans) NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] 9 9 9 q31.1 78015286 78027720 + 106549790 106562226 + 107509969 107522403 + 737633;6480464 12477932 15489334;15177564;14702039;12427096;16169070;17207965;20877624;21988832;23505323;21900206;21890473 25934 Q9UFN0 ABBA01042831;AF161417;AK024015;AK301410;AL117557;AL359846;AMYH01021596;BC005935;BC045830;CH471105;NM_015469 AAF28977;AAH05935;ADQ33218;BAB14777;BAG62943;CAB55992;EAW58990;NP_056284;Q9UFN0 Hs.530275 DKFZp564D177;FLJ13953;HSPC299;MGC14553;NIPSNAP4;TASSC OTTHUMP00000021828;protein NipSnap homolog 3A;protein NipSnap homolog 4;target for Salmonella secreted protein C APPROVED protein-coding ENSG00000136783 23619 16399 608871 PROVISIONAL 1606659 NKAIN3 Na+/K+ transporting ATPase interacting 3 NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] 8 8 8 q12.3 59151524 59893831 + 63324055 64066182 + 63161501 63903628 + 6480464 17606467;14702039;20379614;23568457;22437554 286183 E5RIL3;Q8N8D7 ABBA01041831;ABBA01041832;ABBA01041833;AC018861;AC023095;AC068937;AC087358;AC090577;AC091554;AC120042;AK096949;AK299689;AMYH01018762;CH471068;NM_173688 AAI46367;BAC04909;BAG61594;EAW86858;EAW86859;NP_775959;Q8N8D7 Hs.654662 1337942;1672701;1673162;1719973;1730805;1752035;1773442;1786776;2131077;2140831;2142374 D8S1616;D8S1696;D8S303;D8S426;G19221;G32121;G32129;RH123965;SHGC-105971;SHGC-155641;SHGC-57147 FAM77D;FLJ39630 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3;OTTHUMP00000226539;family with sequence similarity 77, member D;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 APPROVED protein-coding 26829 08261 612872 PROVISIONAL 1604032 NIPBL Nipped-B homolog (Drosophila) This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 p13.2 36912742 37101678 + 36876861 37065921 + 6480464;7240710 16682347;15302935;22241092;19468298;18299561;17661813;17264868;17106445;17081983;16964243;16565220;16236812;15882967;15635413;15591270;15489334;15318302;15146197;15146186;15146185;14702039;12477932;16169070;20824775;22857006;22939629;20634891;16100726;16802858;17468178;17577209;18854353;19052029;19242925;20124326;20358602;8291537;20301283;20431927;20727427;20562864;21784059;22094256;20720539;21934712;20360068;19471022;21139048;22586326;22353942;22174317;23251661;22965847 25836 H0Y8M3;Q6KC79 AA508213;ABBA01024176;AC008902;AC026741;AJ627032;AJ640137;AK002065;AK022659;AK023416;AK023710;AK126804;AK290347;AL137726;AMYH01015028;AMYH01015029;AY726600;BC032711;BC033847;BC063859;BC131490;BC146821;BK005151;BQ723324;BX538177;BX538178;BX640644;CH471119;CN369580;NG_006987;NM_015384;NM_133433 AAH33847;AAI31491;AAI46822;BAC86701;BAF83036;CAD98051;CAD98052;CAE45790;CAF25290;CAG26691;DAA05331;EAW55948;EAW55949;EAW55950;NP_056199;NP_597677;Q6KC79 Hs.481927 1670855;1674733;1678219;1725273;1781100;2109563;2127829;2130771;2191435;5015404;7187989 D5S1878;L17705;MARC_21845-21846:1025102921:1;NIPBL_7249;RH119355;RH47582;RH65882;RH76750;SGC44479;WI-18161 CDLS;CDLS1;DKFZp434L1319;FLJ11203;FLJ12597;FLJ13354;FLJ13648;FLJ44854;IDN3;IDN3-B;Scc2 OTTHUMP00000116005;OTTHUMP00000221091;SCC2 homolog;delangin;nipped-B-like protein;sister chromatid cohesion 2 homolog APPROVED protein-coding ENSG00000164190 28862 10560 122470;608667 REVIEWED 1321311 NIPSNAP1 nipsnap homolog 1 (C. elegans) This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 22 22 22 q12.2 13750532 13776881 - 28280800 28307328 - 29950797 29977326 - 1580863;6480464 18392847;16344560;15489334;12925885;12477932;11895482;9661659;16169070;20562859;20877624;20186120;14676191;18457437;21900206;21139048;21890473;22311985;22505724 8508 B4DQI7;C9JDV8;F8WCR5;H7C2U6;Q9BPW8 ABBA01055266;ABBA01055267;ABBA01055268;AC005529;AJ001258;AK098367;AK290953;AK298816;AK314407;AMYH01012697;AMYH01012698;BC002371;BC006473;BC018869;CH471095;DA133702;NM_001202502;NM_003634 AAH02371;AAH06473;BAF83642;BAG37030;BAG60949;CAA04632;EAW59813;NP_001189431;NP_003625;Q9BPW8 Hs.173878 1689654;1712342;2125516;2186407 G54159;RH178;STS-H24436;WI-15873 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1;NIPSNAP, C. elegans, homolog 1;OTTHUMP00000199702;OTTHUMP00000199704;protein NipSnap homolog 1 APPROVED protein-coding ENSG00000184117 7827 10342 603249 REVIEWED 1315855 NISCH nischarin This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013] 3 3 p21.1 52464564 52502128 + 52489524 52527088 + 1581128;6480464 12021582 18561481;16598778;15475348;15028623;15028622;15028621;15028619;14702039;12868002;12865160;12477932;11912194;10882231;10231032;9851558;21145461;20935629;19913121;20628086;11121431;21706016;21963094;22053931;23572524;21917605;21139048;21890473;21906983;21926972;22483786 11188 C9J715;Q9UFW3 AB023192;ABBA01024507;ABBA01024508;AC006208;AF058290;AF082516;AI889216;AK001505;AK027331;AK027428;AK075000;AK097732;AK291398;AK297657;AK302441;AK315001;AL117432;AL703940;AMYH01013184;AMYH01013185;BC038102;BC050552;BC054494;BC056900;BU177208;CH471055;DB496030;NG_033112;NM_001276293;NM_001276294;NM_007184 AAC33104;AAC33321;AAH38102;AAH54494;AAH56900;BAA76819;BAF84087;BAG51306;BAG51321;BAG60023;BAG63739;CAB55920;EAW65228;EAW65229;EAW65230;EAW65231;NP_001263222;NP_001263223;NP_009115;Q9Y2I1 Hs.435290 1688929;1855143;2109565;2156984;2163121;2191737 MARC_5975-5976:997299498:1;NISCH_9238;RH17807;RH91377;SHGC-32372;WI-18469 FLJ14425;FLJ40413;FLJ90519;I-1;IR1;IRAS;KIAA0975;hIRAS I-1 receptor candidate protein;I1R candidate protein;IR1;OTTHUMP00000213104;OTTHUMP00000213105;hIRAS;imidazoline receptor 1;imidazoline receptor antisera selected;imidazoline receptor antisera-selected protein;imidazoline receptor candidate;imidazoline-1 receptor candidate protein;nischarin protein-coding ENSG00000010322 18006 11391 REVIEWED 1349751 NIT1 nitrilase 1 This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 1 q21-q22 134155024 134162397 + 159354515 159357481 + 161087862 161095235 + 1302481;6480464 9671749 16712791;18029348;16864578;15489334;15231748;12477932;16169070;20877624;21139048;21906983;16713569 4817 B1AQP4;B7Z410;Q86X76 ABBA01016599;AF069984;AF069987;AI277603;AK296606;AK313323;AL591806;AMYH01001457;BC046149;BI752623;BQ002524;BX416745;CB111935;CH471121;CR541814;CR541846;DC302367;NM_001185092;NM_001185093;NM_001185094;NM_005600 AAC39901;AAC39907;AAH46149;AAX36541;AAX36975;BAG36128;BAH12396;CAG46613;CAG46644;EAW52654;EAW52655;EAW52656;EAW52657;NP_001172021;NP_001172022;NP_001172023;NP_005591;Q86X76 Hs.146406 1793346;1793348;2139804;2174889;5014656 D1S3564;PMC21147P1;PMC21147P2;STS-AA028117;WI-12338 MGC57670 OTTHUMP00000029696;OTTHUMP00000029697;nitrilase homolog 1 APPROVED protein-coding ENSG00000158793 7828 07056 604618 REVIEWED 1349938 NKAIN2 Na+/K+ transporting ATPase interacting 2 The protein encoded by this gene is a transmembrane protein that interacts with the beta subunit of Na,K-ATPase (ATP1B1). A chromosomal translocation involving this gene is a cause of lymphoma. At least two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 6 6 6 q21 124869958 125891802 + 124166768 125188485 + 124125069 125146786 + 6480464 17606467;15908570;14702039;14574404;12477932;11979551;19913121;20628086;20634892;16344560;20379614;23534349;23894747;23535033 154215 F5GY48;F5H695;Q5VXU1 AB070452;ABBA01025960;ABBA01025961;ABBA01025962;ABBA01025963;ABBA01025964;ABBA01025965;ABBA01025966;ABBA01025967;ABBA01025968;AK055326;AK308927;AK309385;AK309407;AK309802;AK310763;AK315886;AL035692;AL109842;AL121968;AL136081;AL136107;AL136224;AL354936;AL356278;AL356605;AL450343;AL451135;AL451183;AL512376;AMYH01016638;AMYH01016639;AMYH01016640;AMYH01016641;AMYH01016642;BC035062;CH471051;DA220592;DB174077;DB503487;NG_021365;NM_001040214;NM_153355 AAH35062;BAB85477;BAF98777;BAG51502;EAW48156;NP_001035304;NP_699186;Q5VXU1 Hs.656604 1339768;1339824;1649134;1704050;1705222;1706074;1706158;1726739;1726865;1750013;1751755;1754873;1755693;1758909;1759669;1769158;1778306;1785862;1849134;2128501;2134365;2145666;2161835;2167012;2170213;2178108;2185934;5124164 AFM199zh10;D6S1639;D6S408;D6S988;G17066;G62675;G62757;GDB:314425;RH15825;RH15888;RH41840;RH63718;RH66670;RH78368;SGC32046;SHGC-105740;SHGC-111710;SHGC-112081;SHGC-141801;SHGC-142534;SHGC-150790;SHGC-1831;SHGC-53538;SHGC-77850;SHGC-78097;SHGC-80073;SHGC-80603;WI-19339 FAM77B;MGC41924;NKAIP2;TCBA;TCBA1 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2;OTTHUMP00000017129;T-cell lymphoma breakpoint-associated target protein 1;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 APPROVED protein-coding ENSG00000188580 16443 18168 609758 REVIEWED 1606507 NKAIN1 Na+/K+ transporting ATPase interacting 1 NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] 1 1 1 p35.2 29909011 29969229 - 31425180 31433587 - 31652592 31712734 - 6480464 16710414;15489334;14702039;12477932;17606467;23455491 79570 B7Z5F5;H0YDA0;Q4KMZ8;R4GNE2 ABBA01023475;AC114495;AI884789;AK022712;AK298874;AK299507;AL832547;AMYH01000455;AMYH01000456;BC096707;BC098173;BC098249;BC131518;CH471059;DB499136;NM_024522 AAH96707;AAH98173;AAH98249;AAI31519;BAB14196;BAH12891;BAH13055;EAX07628;EAX07629;NP_078798;Q4KMZ8 Hs.470259 1699096;1764071 RH103124;SHGC-147726 FAM77C;FLJ12650 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 1;OTTHUMP00000003887;OTTHUMP00000228415;family with sequence similarity 77, member C;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 APPROVED protein-coding ENSG00000084628 25743 07786 612871 VALIDATED 1314067 NKAIN4 Na+/K+ transporting ATPase interacting 4 NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009] 20 20 20 q13.33 58549620 58563376 - 61342584 61356335 - 61872136 61885892 - 6480464 17606467;15489334;12477932;11780052;8889548;8125298;17207965 128414 A6NNM2;B3KWY5;J3JS66;J9JIE8;Q8IVV8 ABBA01021393;AK126246;AK225765;AK308958;AL121827;AMYH01012075;BC041812;BG708360;BM673598;CH471077;NM_152864 AAH41812;ADQ32491;BAG54297;EAW75297;EAW75298;EAW75299;EAW75300;EAW75301;NP_690603;Q8IVV8 Hs.46627 1681273 RH45904 C20orf58;FAM77A;bA261N11.2 Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 4;OTTHUMP00000031539;OTTHUMP00000031540;OTTHUMP00000031542;sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 APPROVED protein-coding ENSG00000101198 16191 12776 612873 VALIDATED 1323244 NKAPL NFKB activating protein-like 6 6 6 p22.1 29833544 29835182 + 28335077 28336715 + 28227098 28228736 + 6480464 15489334;14574404;12477932;21145461;17207965;22990118;22037552;23223422;23503679 222698 Q5M9Q1 ABBA01038015;AF085870;AI240405;AL390721;AMYH01016189;BC038240;BC101681;BC101685;CH471081;DB471905;NM_001007531 AAH38240;AAI01682;AAI01686;ADQ31981;EAX03145;EAX03146;NP_001007532;Q5M9Q1 Hs.48787 1665305;5493225 UniSTS:485379;WI-15159 C6orf194;MGC126730;MGC126734;bA424I5.1 NKAP-like protein;OTTHUMP00000016201 protein-coding ENSG00000189134 21584 16664 VALIDATED 1322930 NKD2 naked cuticle homolog 2 (Drosophila) This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 5 5 5 p15.3 1048097 1076601 + 1062168 1091925 + 1009077 1038927 + 1580863;6480464;6484113;6907045 15064403;18757723;17553928;16752383;12477932;11604995;22087225;11356022;20177058;10737800;15687260;17045239;17362910;17764565;18504258;19847810;20828404 85409 E7EWA8;Q969F2 AB062887;ABBA01034220;ABBA01034221;ABBA01034222;AC116351;AF358137;AMYH01014849;AMYH01014850;BC004940;BC012176;BE061409;CH471102;NM_001271082;NM_033120 AAH04940;AAH12176;AAK57486;BAB70501;EAX08182;EAX08183;EAX08184;NP_001258011;NP_149111;Q969F2 Hs.240951 1689163;1731058 D10S18;RH98721 Naked2 Dvl-binding protein NKD2;OTTHUMP00000115406;OTTHUMP00000220490;hNkd2;naked cuticle-2;naked-2;protein naked cuticle homolog 2 APPROVED protein-coding ENSG00000145506 17046 08483 607852 REVIEWED 1318289 NKD1 naked cuticle homolog 1 (Drosophila) In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003] 16 16 16 q12.1 35097548 35183963 + 49139742 49226142 + 50582241 50674771 + 6480464;6907045 15687260;16567647;12477932;11752446;11604995;11356022;11274398;19956716;14702039;21599923;22412388 85407 Q969G9 AB062886;ABBA01000868;ABBA01000869;ABBA01000870;ABBA01000871;AC007608;AF289584;AF358135;AK000276;AK021701;AK023784;AK314930;AMYH01007663;AY061883;BC051288;CH471092;NM_033119 AAH51288;AAK57484;AAL32374;AAL55768;BAB70500;BAG37436;EAW82761;NP_149110;Q969G9 Hs.187578 1336316;1341343;1693806;1794880;2123979;5124154 D16S3035;D16S541;G10577;PMC64968P1;RH98401;SHGC-58948 FLJ11639;FLJ13722;FLJ20269;Naked1 Dvl-binding protein;OTTHUMP00000164221;hNkd;hNkd1;naked cuticle-1;naked-1;protein naked cuticle homolog 1 APPROVED protein-coding 17045 08482 607851 VALIDATED 1606506 NKAP NFKB activating protein This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010] X X X q24 119513642 119532364 - 118943051 118961763 - 119059013 119077735 - 6480464 18029348;18804983;17081983;16189514;16097034;15489334;15345747;15302935;14702039;14550261;12477932;16169070;21624937;21145461;19409814;17207965;20360068;19471022 79576 Q05D22;Q8N5F7 ABBA01036610;ABBA01036611;ABBA01036612;AC002477;AK026279;AK094446;AL832118;AMYH01022886;AY388958;BC000940;BC012770;BC015354;BC016783;BC018968;BC032442;BC071686;CH471161;NG_021260;NM_024528 AAH15354;AAH16783;AAH18968;AAH32442;AAH71686;AAQ90402;ADQ32702;BAB15428;EAW89838;NP_078804;Q8N5F7 Hs.522771 1740653;1774574;1853717;5016596;5037552 D20S1001;D8S2279;GDB:631802;RH69561;RH77706 FLJ22626 NF-kappa-B-activating protein;NF-kappaB activating protein;OTTHUMP00000023926 APPROVED protein-coding ENSG00000101882 29873 06666 300766 REVIEWED 1350809 NKAPP1 NFKB activating protein pseudogene 1 X X X q24 119835894 119844707 - 119239224 119263506 - 119370305 119379122 - 16344560;15489334;14702039;12477932 158801 Q8N9T2 ABBA01049617;ABBA01049618;ABBA01049619;AC002086;AC240549;AK093895;AMYH01022916;BC022359;BC113730;BC113732;BX537594;CK905715;DB004517;NR_027131 BAC04246;CAD97792;Q8N9T2 Hs.442518 2185742;5015404 AL021883;L17705 CXorf42;DKFZp686B1195;FLJ13381;FLJ36576;MGC142290;MGC142292 APPROVED pseudo ENSG00000233382 26706 06560 VALIDATED 1345555 NKS1 natural killer cell susceptibility 1 1979875 4819 7832 1603306 NKX1-1 NK1 homeobox 1 4 4 4 p16.3 1324669 1339840 - 1380072 1392453 - 1396720 1400119 - 7518789;21993526 54729 Q15270 AC118281;X76978;XM_926341 CAA54282;Q15270;XP_931434 Hs.526396 1688060;1757307 Cda1ad08;SHGC-144709 HSPX153;NKX-1.1;SAX2 HPX-153 homeobox;NK1 transcription factor related, locus 1;NK1 transcription factor-related protein 1;NKX-1.1;OTTHUMP00000217682;homeobox protein 153;homeobox protein SAX-2 protein-coding 24975 1315537 NKX1-2 NK1 homeobox 2 10 10 10 q26.13 119908245 119910797 - 126125988 126128534 - 126135998 126138550 - 6480464 15146197;10681422 390010 G3V2X8;Q9UD57 ABBA01034143;AL445237;AMYH01003154;CH471066;NM_001146340 EAW49270;NP_001139812;Q9UD57 Hs.712041 C10orf121;NKX-1.1;bB238F13.2 NK1 transcription factor related, locus 2;NK1 transcription factor-related protein 2;NKX-1.1;OTTHUMP00000245953;Sax1-like;homeobox protein SAX-1 protein-coding 31652 INFERRED 1347836 NKG7 natural killer cell group 7 sequence 19 19 19 q13.41 48925955 48927041 - 56566686 56567772 - 51874874 51875960 - 1580863;6480464 8458737;15489334;12477932;7510105 4818 M0QXT6;M0R0D6;M0R3G3;Q16617 ABBA01068274;AC008750;AF305941;AI313472;AMYH01009952;BC015759;CH471135;NM_005601;S69115;U09608 AAA18209;AAB30078;AAG32329;AAH15759;ABM86868;ABW03870;EAW72006;EAW72007;EAW72008;NP_005592;Q16617 Hs.10306 2146351;5094918 NKG7;SHGC-35527 GIG1;GMP-17;p15-TIA-1 G-CSF-induced gene 1 protein;GIG-1 protein;granule membrane protein of 17 kDa;natural killer cell protein 7;protein NKG7 protein-coding ENSG00000105374 7830 16188 606008 VALIDATED 7246848 NKX2-1-AS1 NKX2-1 antisense RNA 1 16344560 100506237 Q86SZ3 AL132857;AMYH01005674;BX114409;BX161496;DA256249;NR_103710;XR_132759;XR_172038 CAD61942;Q86SZ3 Hs.497090 1792526 PMC152810P1 miscrna ENSG00000253563 40585 VALIDATED 1323472 NKPD1 NTPase, KAP family P-loop domain containing 1 19 19 19 q13.32 42457268 42467668 - 50347001 50348950 - 45653008 45663408 - 6480464 15935074;14702039;12477932 284353 E9PAX4;J3KNK3;Q17RQ9 ABBA01040912;AC005757;AMYH01009849;BC117228;BC143792;EG328190;EG328439;NM_198478 AAI17229;AAI43793;ADR83335;NP_940880;Q17RQ9 Hs.299256 1687483;1690502;1693944;2122150;2177060 D19S859;G42666;RH98737;SHGC-1350;STS-AA009699 FLJ33600 NTPase KAP family P-loop domain-containing protein 1 protein-coding ENSG00000179846 24739 11393 VALIDATED 6769737 NKX2-2-AS1 NKX2-2 antisense RNA 1 18538132 100874189 AL133325 NKX2-2AS APPROVED miscrna 37154 1318403 NKIRAS1 NFKB inhibitor interacting Ras-like 1 3 3 3 p24.2 23869757 23894727 - 23908576 23933541 - 23933572 23958537 - 6480464 10657303;18434448;15761153;15489334;15024091;14702039;12672800;12477932;21302000;20693965;23156677;21832049;21139048;21906983 28512 G5E9P3;Q9NYS0 ABBA01025039;AC124914;AF229839;AK027749;AMYH01013030;BC012145;BC066940;BG713995;CH471055;DQ314881;NM_020345 AAF34998;AAH12145;AAH66940;ABC40740;ABW03916;BAB55341;EAW64335;EAW64336;NP_065078;Q9NYS0 Hs.173202 1340630;1772068;2109567;2177989;2183061 D10S595;NKIRAS1_9559;SHGC-76773;SHGC-76774;WI-16381 KBRAS1;kappaB-Ras1 I-kappa-B-interacting Ras-like protein 1;NF-kappa-B inhibitor-interacting Ras-like protein 1;NFKB inhibitor interacting Ras-like protein 1;OTTHUMP00000208334;OTTHUMP00000208336;OTTHUMP00000208337;OTTHUMP00000208338;OTTHUMP00000208339;kappa B-Ras protein 1;kappa B-ras 1 protein-coding ENSG00000197885 17899 06841 604496 VALIDATED 1343785 NKX2-4 NK2 homeobox 4 20 20 20 p11.22 21449893 21451935 - 21324005 21326047 - 21376005 21378047 - 6480464 11780052;10818213;1346742 644524 Q9H2Z4 ABBA01054104;AF202037;AL133325;AL158013;AMYH01011769;CH471133;NM_033176 AAG35617;EAX10185;NP_149416;Q9H2Z4 Hs.456662 NKX2.4;NKX2D NK-2 homolog D;NK2 transcription factor homolog D;NK2 transcription factor related, locus 4;OTTHUMP00000030401;homeobox protein NK-2 homolog D;homeobox protein Nkx-2.4 protein-coding 7837 607808 VALIDATED 1353165 NKTR natural killer-tumor recognition sequence This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008] 3 3 3 p23-p21 42582557 42630629 + 42617151 42665237 + 42642147 42690233 + 1580863;6480464 8421688;17081983;14729963;14702039;12477932;8413330;8314596;8144875;1720812;20936779;17620599;19596686;19322201 4820 A8K7K2;C9JMM5;P30414 AA493639;AB209888;ABBA01024763;ABBA01024764;ABBA01024765;ABBA01024766;AC006059;AC092047;AF184110;AK097208;AK126234;AK292017;AMYH01013114;BC020672;BC035644;BC051318;BC072680;BC144518;BU632018;BX538094;BX640751;BX641127;BX957215;BX957218;CH471055;CR749415;CR749571;L04288;NM_005385;S65996 AAA35734;AAB28499;AAD56402;AAI67775;BAD93125;BAF84706;CAE45859;CAE46057;CAF29506;CAF29508;CAH18257;CAH18366;EAW64659;EAW64660;EAW64661;NP_005376;P30414 Hs.529509 1334827;1652967;1739809;1759415;1761301;1761341;1849329;1851803;5015861;5023733;5092624;7185938 A005C05;AU048745;D10S16;D3S3481E;D3S3559;G32221;RH12634;SHGC-145304;SHGC-145352;SHGC-150985;SHGC-76859 DKFZp686F1754;DKFZp686G0426;DKFZp686J06106;DKFZp686N24126;MGC90527;p104 NK-TR protein;NK-tumor recognition protein;OTTHUMP00000164031;natural killer triggering receptor;natural-killer cells cyclophilin-related protein APPROVED protein-coding ENSG00000114857 7833 01195 161565 REVIEWED 1603362 NKX2-6 NK2 homeobox 6 This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011] 8 8 8 p21.2 22523400 22527359 - 23615909 23621070 - 23559964 23564111 - 6480464;7240710 15649947;18939937;15146197;9621430;7665173;18316326;22310353 137814 A6NCS4;C9JML6 ABBA01005546;AC012574;AMYH01018576;CN272646;NG_030636;NM_001136271 A6NCS4;BAG74155;NP_001129743 Hs.532654 2187791 G69457 CSX2;NKX2F;NKX4-2 NK2 transcription factor related, locus 6;OTTHUMP00000225197;homeobox protein NK-2 homolog F;homeobox protein NK2 homolog F;homeobox protein NKX2.6;homeobox protein Nkx-2.6;tinman paralog APPROVED protein-coding ENSG00000180053 32940 217095;611770 REVIEWED 1343355 NKRF NFKB repressing factor This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X q24 118606334 118623841 - 118722300 118739846 - 1580863;6480464 21145461;10562553;18029348;19542452;18560378;17592041;17186550;16107696;15489334;15226370;14744032;12477932;12429849;12381793;9224902;18025206;9442378;21300069;22990118;16147992;19471022;21139048;21693764;19596686;21900206;21903422;21942715;21628590;22446626;22586326;22944692;22441735 55922 A3F768;A3F769;O15226 AA845622;ABBA01036656;ABBA01036657;AC004913;AJ011812;AL539002;AMYH01022884;AY208891;BC040379;BC047878;BC068514;CH471161;EF158333;EF165090;EF165091;EF165092;EF165093;EF165094;EF165095;EF216688;EF216689;NG_016800;NM_001173487;NM_001173488;NM_017544;Y07707 AAH40379;AAH47878;AAH68514;AAP43025;ABM16955;ABM55375;ABM55376;ABM55377;ABM55378;ABM55379;ABM55380;ABN11234;ABN11235;CAA68976;CAB56459;EAW89859;EAW89860;NP_001166958;NP_001166959;NP_060014;O15226 Hs.437084 2120271 DXS7301 ITBA4;NRF NF-kappa-B-repressing factor;OTTHUMP00000023906;OTTHUMP00000023907;nf-kappab repressing factor;transcription factor NRF APPROVED protein-coding ENSG00000186416 19374 02341 300440 REVIEWED 1316518 NKIRAS2 NFKB inhibitor interacting Ras-like 2 17 17 17 q21.2 36824646 36832710 + 37422564 37431185 + 40169594 40177659 + 1580863;6480464 10657303;18434448;16344560;15489334;14702039;12477932;20639196;21900206;21139048;21890473 28511 C9JPP2;H7BXP1;K7EKE9;K7ELL8;K7ER26;K7ERG2;Q9NYR9 ABBA01006441;AC105024;AF229840;AK027265;AK054571;AK297975;AL137682;AMYH01008390;BC007316;BC007450;BC009059;BC063498;BG717103;CH471152;DA509824;DA607452;DQ314882;NM_001001349;NM_001144927;NM_001144928;NM_001144929;NM_017595 AAF34999;AAH07450;AAH63498;ABC40741;ABM84159;ABM87562;BAB55006;BAG51392;BAG60285;CAB70873;EAW60790;EAW60791;EAW60792;EAW60793;EAW60794;NP_001001349;NP_001138399;NP_001138400;NP_001138401;NP_060065;Q9NYR9 Hs.632252 1338879;1661707;1666875;2131743;5015961;5016478;5037552 A001U04;D15S1477;D6S1611;D8S2279;GDB:434012;WI-12446;WI-21902 DKFZp434N1526;KBRAS2;MGC74742;kappaB-Ras2 I-kappa-B-interacting Ras-like protein 2;NF-kappa-B inhibitor-interacting Ras-like protein 2;NFKB inhibitor interacting Ras-like protein 2;OTTHUMP00000164763;OTTHUMP00000164764;OTTHUMP00000164765;OTTHUMP00000164766;OTTHUMP00000164767;OTTHUMP00000164768;kappa B-Ras protein 2 protein-coding ENSG00000168256 17898 07261 604497 VALIDATED 732483 NKX2-1 NK2 homeobox 1 This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TFF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Apr 2011] 14 14 q13 36055353 36059167 - 36985602 36989430 - 729951;1600157;1600158;1580863;2290483;6480464;6484113;7240710 1976511;16220345;17245593;17504987 21784970;21425409;21982616;22185756;22383183;7711080;7713914;19506552;19365834;19336474;19329538;19198613;19176457;19064983;19047914;19011567;18958156;18957494;18788921;18682709;18661567;18487360;18391950;18379122;18239190;18212743;18071837;18059234;17765926;17702043;17671725;17640327;17616654;17413979;17412341;17220277;17182767;17044090;16980598;16960125;16630564;16613858;16565516;16461352;16314749;16260629;15955952;15929662;15548547;15489334;15485815;15449938;15279903;15271884;15173172;15098009;14970209;14720435;14633512;12923324;12684771;12499091;12477932;12441357;12408771;12161428;12051643;12040027;11971878;11957142;11953175;11923479;11854319;11854318;11836702;11733512;11713256;11438542;11274148;11076796;10733581;10617585;9988700;9545595;9396717;8889548;7711079;9582279;20042854;20701785;20565809;22531686;11152647;14960358;1735431;17474147;18855882;18997617;19293183;19483637;19525896;19578049;19730683;19740516;19906647;20020530;20157192;20518411;7559607;7635972;8675988;20734064;20830690;22761434;18246044;18355939;18587322;18932182;19040416;19279207;19430419;20182342;20302910;21164283;21481790;21471965;15494458;21343336;20823767;23169673;20848248;21036415;21257719;21464700;21677782;21562130;21717589;21771032;21775107;21730105;20467438;23507558;22011671;22242187;21813802;21555194;22439932;22825795;22982653;22832740;22166853;19010321;23322301 7080 F8VVG2;P43699 ABBA01061526;ABBA01061527;AL132857;AMYH01005674;BC006221;BE796718;BM970287;BM970838;BT009773;CH471078;D50739;D50740;D50741;NG_013365;NM_001079668;NM_003317;U19756;U19816;U33627;U33749;U43203;X82850 AAA83233;AAA86099;AAA89066;AAB52381;AAC50125;AAH06221;AAP88775;ABM83890;ABM87210;BAA23527;BAA23528;BAA23529;CAA58053;EAW65856;EAW65857;EAW65858;EAW65859;NP_001073136;NP_003308;P43699 Hs.94367 1769991;1792526;1798276;2122090;2165149;5492064 PMC152810P1;RH69670;RH79171;SHGC-35528;TITF1_2309;Titf1 BCH;BHC;NK-2;NKX2.1;NKX2A;TEBP;TITF1;TTF-1;TTF1 NK-2 homolog A;OTTHUMP00000178847;OTTHUMP00000225297;homeobox protein NK-2 homolog A;homeobox protein Nkx-2.1;thyroid nuclear factor 1;thyroid transcription factor 1 APPROVED protein-coding ENSG00000136352 11825 02798 118700;600635;610978 REVIEWED 1346979 NKX6-1 NK6 homeobox 1 In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008] 4 4 4 q21.33 82704620 82709571 - 85633460 85638411 - 85414436 85419387 - 1580863;2311166;6480464;6907045 18687784 10567713;18754095;18347054;16873704;15839736;15056733;9119408;20106981;21108535;18029348;21985235 4825 F8VWZ9;P78426 ABBA01063479;AC096766;AMYH01014364;CH471057;NM_006168;U66797;U66798;U66799 AAD11962;AAI60030;EAX05949;NP_006159;P78426 Hs.546270 NKX6.1;NKX6A NK homeo box, family 6, member A;NK homeobox, family 6, A;NK6 transcription factor homolog A;NK6 transcription factor related, locus 1;OTTHUMP00000160981;homeobox protein NK-6 homolog A;homeobox protein Nkx-6.1 2316335 GLUCO232_H APPROVED protein-coding 7839 09092 602563 VALIDATED 1318213 NKX2-2 NK2 homeobox 2 The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008] 20 20 p11.22 21439648 21442664 - 21491655 21494664 - 1580863;2306244;6480464;6907045 15048854 18414662;17335795;16873704;16697960;15489334;14573534;12477932;11780052;10818213;10772886;9703340;1346742;18029348;19011242;18987169;20599218;21481790;15695521;21624811;22446943 4821 O95096;Q9HBZ5 ABBA01054105;AF019414;AF019415;AF184045;AL133325;AMYH01011770;AMYH01011771;BC075092;BC075093;BM314196;BQ632044;BU070383;CA772329;CH471133;NM_002509 AAC83132;AAG16976;AAH75092;AAH75093;ABZ92170;EAX10183;NP_002500;O95096 Hs.516922 1791740;5021955 Nkx2-2;PMC123023P4 NKX2.2;NKX2B NK-2 homolog B;NK2 transcription factor related, locus 2;NK2 transcription factor-like protein B;OTTHUMP00000030405;homeobox protein NK-2 homolog B;homeobox protein Nkx-2.2 APPROVED protein-coding ENSG00000125820 7835 05213 604612 REVIEWED 1318340 NKX2-3 NK2 homeobox 3 This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010] 10 10 q24.2 101282680 101286271 + 101292690 101296281 + 1580863;6480464 19422935;19174780;18936107;18587394;18438406;18438405;17554300;17554261;15489334;15164054;12477932;12141427;11457859;8812123;21968973;21102463;16385451;19683022;19861958;20228798;20473688;19760754;20211142;20886065;21049557;21072187;20165982;20188614;20228799;21514341;18255255;21637825;22377701;21803625;22412388;23064961;23128233;23222517 159296 Q8TAU0 ABBA01063247;AK300856;AK313485;AL353719;AL513542;AMYH01002989;BC025788;BI764885;CH471066;NG_016854;NM_145285 AAH25788;BAG62506;EAW49867;NP_660328;Q8TAU0 Hs.243272 1758177;2218794 NKX2-3_1975;SHGC-147590 CSX3;NK2.3;NKX2.3;NKX2C;NKX4-3 NK2 transcription factor related, locus 3;OTTHUMP00000020258;homeobox protein NK-2 homolog C;homeobox protein Nkx-2.3 APPROVED protein-coding ENSG00000119919 7836 05992 606727 REVIEWED 1321643 NKX2-8 NK2 homeobox 8 14 14 14 q13.3 16912759 16915329 - 36118967 36121537 - 37049216 37051786 - 1580863;6480464 11252173;9446603;12167706;19279207;15235609;12477932;22223847;21148747 26257 O15522 ABBA01061527;AF000295;AF000297;AK313537;AL079303;AMYH01005674;BC041090;NM_014360 AAC71081;AAC71082;AAH41090;BAG36314;NP_055175;O15522 Hs.234763 NKX2.8;NKX2H;Nkx2-9 NK-2 homolog 8;NK-2 homolog H;NK2 transcription factor related, locus 8;OTTHUMP00000027959;homeobox protein NK-2 homolog H;homeobox protein Nkx-2.8 protein-coding 16364 04456 603245 PROVISIONAL 1316381 NKX6-2 NK6 homeobox 2 10 10 10 q26 128918129 128919346 + 134448310 134449527 - 134598320 134599537 - 1580863;6480464 11210186;12477932 84504 Q9C056 ABBA01006193;ABBA01006194;ABBA01006195;AF184215;AL392043;AMYH01003216;BC101635;BC104823;BF509028;CH471211;NM_177400 AAI01636;AAI04824;AAK13251;EAW61308;NP_796374;Q9C056 Hs.134013 1701062;5493513 RH104158;UniSTS:486958 GTX;MGC126684;NKX6.2;NKX6B NK homeobox family 6, B;NK6 transcription factor related, locus 2;OTTHUMP00000020781;glial and testis-specific homeobox protein;homeobox 6B;homeobox protein NK-6 homolog B;homeobox protein Nkx-6.2 protein-coding ENSG00000148826 19321 09336 605955 VALIDATED 6481359 NLGN1-AS1 NLGN1 antisense RNA 1 100874010 AC110871 APPROVED miscrna 40676 1606841 NKX2-5 NK2 homeobox 5 This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 5 5 q34 172591744 172594868 - 172659107 172662315 - 5131637;6480464;7240710;1580253;7247738;7247729 19395679;9651244;23285148;1581132 18579533;9858576;11431700;11889119;15653675;18079734;19479054;19371212;19302747;19181906;19073351;19049681;18997347;18976153;18939937;18689573;18547965;18492690;18219441;18084293;18076106;17891520;17891434;17584735;17308084;16418214;16138909;16137232;15917268;15649947;15542826;15489334;15363409;15342699;15340050;15161646;14607454;14500364;12858532;12858530;12798584;12775767;12499378;12477932;12414819;12122109;12074273;12023302;11714651;10948187;10903346;10587520;10206974;9748262;9312027;8900537;8887666;7665173;12845333;19913121;20628086;20807224;21091212;20606036;20725931;18851995;20211142;20932824;16556596;15109497;16344560;16678093;18983250;19464101;19533775;19564151;19595143;19948535;20021795;20022124;20062060;20137692;20157192;20456451;20487506;22666732;22920929;21165553;21110066;22849347;20561859;21188375;22043484;21519287;23644027;21276881;21152044;21561848;22192413;22560297;22011241;21931855;21262546;22647876;19217179;21815254;22306654;22179962;22576768;22824467 1482 E5RH49;P52952 AB021133;ABBA01044025;AC008412;AI609745;AK290615;AK297844;AK307218;AK307247;AK307249;AK309495;AMYH01015823;BC025711;CH471062;DA559427;NG_013340;NM_001166175;NM_001166176;NM_004387;U34962 AAC50470;AAH25711;ABM84239;ABM85030;ABM87626;BAA35181;BAF83304;BAG60178;EAW61404;NP_001159647;NP_001159648;NP_004378;P52952 Hs.54473 1678951 RH80828 CHNG5;CSX;CSX1;FLJ52202;FLJ97166;FLJ97195;FLJ97197;FLJ99536;HLHS2;NKX2.5;NKX2E;NKX4-1;VSD3 NK2 transcription factor related, locus 5;OTTHUMP00000161080;OTTHUMP00000225425;OTTHUMP00000225426;cardiac-specific homeobox 1;homeobox protein CSX;homeobox protein NK-2 homolog E;homeobox protein Nkx-2.5;tinman paralog APPROVED protein-coding ENSG00000183072 2488 02787 108900;187500;217095;225250;271400;600584;614432;614435 REVIEWED 1605569 NKX6-3 NK6 homeobox 3 The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008] 8 8 8 p11.21 40452355 40453402 - 41622986 41624035 - 41503829 41504878 - 6480464 16326147;12477932 157848 A6NJ46 ABBA01021135;ABBA01021136;AC009630;AK057898;AMYH01018673;AMYH01018674;CH471080;NM_152568 A6NJ46;AAI56230;AAI57003;BAB71610;EAW63251;EAW63252;NP_689781 Hs.647132 5493561 UniSTS:487218 FLJ25169;NKX6.3 NK6 transcription factor related, locus 3;OTTHUMP00000225817;homeobox protein Nkx-6.3 APPROVED protein-coding 26328 08053 610772 PROVISIONAL 1353604 NKX3-2 NK3 homeobox 2 This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 14008663 14012323 - 13151552 13155212 - 13542454 13546114 - 1580863;6480464;7240710 9344671;15489334;15024065;12477932;11076863;9426254;9256352;20004766;14612411;21606193;22507129 579 P78367 ABBA01032544;AC006445;AF005260;AF009801;AF009802;AMYH01014007;BC111966;CH471069;NG_023192;NM_001189;U89845 AAB49696;AAB82783;AAB82784;AAC39536;AAI11927;AAI11967;AAI18498;ABZ91996;EAW92714;NP_001180;P78367 Hs.590927 2154314;2218296 BAPX1_4433;SHGC-67264 BAPX1;MGC138171;NKX3.2;NKX3B;SMMD OTTHUMP00000115816;bagpipe homeobox protein homolog 1;homeobox protein NK-3 homolog B;homeobox protein Nkx-3.2 APPROVED protein-coding ENSG00000109705 951 09075 602183;613330 REVIEWED 1313354 NKX3-1 NK3 homeobox 1 This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012] 8 8 p21.2 23592173 23596395 - 23536206 23540450 - 1580863;6480464;6484113;6907045 17234752;11137288;9537602;19266349;19258508;18974119;18757402;18454873;18360715;18296735;18077445;17486276;17202838;17108105;16845664;16817226;16814806;16697957;16581776;16519150;16442598;16413692;16397218;16382041;16201967;15880262;15734999;15691383;15523673;15489334;15311057;14648854;14633588;12661036;12477932;12450213;11980664;11809674;11085535;10993896;10559189;9377551;22179513;9226374;20588175;20363913;20855495;18794125;20479932;20564319;19915572;20676098;19263243;19453261;19462257;19767753;19780584;19797053;19886863;20395202;20716579;20842667;17602165;21456068;22910912;17488276;19597465;21945437;22344708;22083957;18816836;22848398;22484818;12972618;22741436 4824 Q99801 ABBA01005546;AC012574;AC051642;AF247704;AF249669;AF249670;AF249671;AF249672;AMYH01018576;BC074863;BC074864;BC111574;BF511129;CH471080;NM_001256339;NM_006167;NR_046072;U80669;U91540 AAB38747;AAB68662;AAG09781;AAG39735;AAG39736;AAG39737;AAG39738;AAH74863;AAH74864;ABZ92171;EAW63613;NP_001243268;NP_006158;Q99801 Hs.55999 1662103;1675593;1796408 NKX3-1_1192;RH94244;SHGC-57295 BAPX2;NKX3;NKX3.1;NKX3A NK homeobox, family 3, A;NK3 transcription factor homolog A;NK3 transcription factor related, locus 1;OTTHUMP00000123534;homeobox protein NK-3 homolog A;homeobox protein Nkx-3.1 APPROVED protein-coding ENSG00000167034 7838 03620 602041 REVIEWED 6481263 NLGN4Y-AS1 NLGN4Y antisense RNA 1 Y 16905522 16915913 - 15146197 100874056 ABBA01056983;ABBA01056984;AC010879;CN268789;NR_046504 Hs.743197 NLGN4Y-AS;NLGN4YAS APPROVED miscrna ENSG00000228787 38793 PREDICTED 732705 NLGN2 neuroligin 2 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 7337380 7349064 + 7252226 7263903 + 7311502 7323179 + 1580863;6480464 10892652;19086053;12669065;12477932;10996085;10819331;10767552;10718198;9647694;9278515;8576240;22528485;21551456;23248271;19322201 57555 I3L498;Q8NFZ4 AA447769;AB037787;ABBA01054864;ABBA01054865;AC113189;AF376802;AI613237;AMYH01008081;AMYH01008082;BC069217;BI868885;BM800364;CH471108;DR763679;EL949788;NM_020795 AAI72284;AAM46111;BAA92604;EAW90195;EAW90196;EAW90197;NP_065846;Q8NFZ4 Hs.26229 1740195;2169169;2170128 A005P18;D17S1783;RH15991 KIAA1366 OTTHUMP00000135277;neuroligin-2 APPROVED protein-coding ENSG00000169992 14290 07348 606479 REVIEWED 1604007 NLE1 notchless homolog 1 (Drosophila) 17 17 17 q12 30368560 30379514 - 30482481 30493435 - 33458368 33469322 - 6480464 21145461;17041588;15489334;14702039;12477932;12429849;11124703;16189514;18029348;22586326;21906983;22505724 54475 K7EK23;K7EN33;K7ERN7;Q9NVX2 AB209111;ABBA01011226;ABBA01011227;AC022916;AJ005257;AK001320;AK303253;AK304508;AMYH01008353;AW451963;BC002884;BC012075;BI752930;CH471147;HC250965;HC311154;NM_001014445;NM_018096 AAH02884;AAH12075;BAA91621;BAD92348;BAG64336;BAG65315;CAA06444;CBJ05780;CBJ21232;EAW80165;EAW80166;EAW80167;NP_001014445;NP_060566;Q9NVX2 Hs.85570 1676806;2120635;2174091;2191565 MARC_26573-26574:1033747979:7;RH15758;STS-R50161;STS-W73253 FLJ10458;Nle Notchless gene homolog;OTTHUMP00000163848;OTTHUMP00000163849;notchless protein homolog 1 protein-coding ENSG00000073536 19889 16903 VALIDATED 736453 NLGN1 neuroligin 1 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] 3 3 q26.31 174598938 175483810 + 173116244 174001116 + 1580863;6480464 12477932;19086053;18987618;16882988;16641997;16077734;15797875;15489334;14702039;14522992;10996085;10892652;10819331;10470851;9278515;8576240;7736595;20677014;19598235;19730411;19736351;20034102;20201926;20379614;20398908;20516156;21838267;23719805;16344560;22750515 22871 C9J4D3;C9JWG7;D2X2H5;Q8N2Q7 AB028993;ABBA01058623;ABBA01058624;ABBA01058625;ABBA01058626;ABBA01058627;ABBA01058628;ABBA01058629;ABBA01058630;ABBA01058631;ABBA01058632;ABBA01058633;ABBA01058634;ABBA01058635;ABBA01058636;AC008082;AC008120;AC018456;AC069531;AC092923;AC092967;AC110871;AC131158;AK074522;AK307813;AMYH01013655;BC032555;CB052838;CH471052;DA310134;GQ489206;NM_014932 AAH32555;ABM82165;ABW03367;ADB12633;BAA83022;BAC11039;EAW78453;EAW78454;EAW78455;EAW78456;NP_055747;Q8N2Q7 Hs.478289 1338003;1338754;1657267;1665083;1668453;1669653;1672330;1674679;1700764;1709806;1713605;1715491;1717595;1719789;1725271;1729976;1749839;1751323;1751463;1770662;1789246;2111039;2137877;2161576;2219184;7187952 D3S1240;D3S1494E;D3S1565;D3S2361;D3S2425;G31504;G65623;NLGN1__6059;RH104007;RH119354;RH120677;RH120987;RH122102;RH123586;RH46211;RH47794;RH48016;RH48275;SHGC-105188;SHGC-105283;SHGC-111576;SHGC-24334;SHGC-77554;SHGC-84720;WI-11234 KIAA1070;MGC45115;NL1 OTTHUMP00000211275;OTTHUMP00000211276;neuroligin-1 APPROVED protein-coding ENSG00000169760 14291 07195 600568 REVIEWED 733571 NLGN3 neuroligin 3 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009] X X q13.1 70281436 70307776 + 70364681 70391051 + 1580863;6480464;7240710 16648374;15389766;17292328;12669065;15150161;18029348;19645625;19406211;19058789;18628683;18189281;22671294;16508939;16303743;16077734;15622415;15274046;14702039;12477932;11329178;10996085;10819331;10767552;9751164;9325340;9278515;8576240;15342556;20034102;20227402;15620359;15152050;21569590;21988832;23431752;20301615 54413 D3DVV1;E7EVK0;Q4G160;Q9NZ97 AB040913;ABBA01067675;ABBA01067676;AF217411;AF217412;AF217413;AK074814;AK296217;AK299567;AK299669;AK314699;AL590764;AMYH01022534;BC028738;BC051715;BP201014;BX641059;CH471132;GQ489207;NG_015874;NM_001166660;NM_018977;NM_181303 AAF71230;AAF71231;AAF71232;AAF71233;AAH28738;AAH51715;ADB12634;ADZ15610;BAA96004;BAC11226;BAG37248;BAH12284;BAH13067;BAH13096;CAE46030;EAX05307;EAX05308;EAX05309;EAX05310;EAX05311;EAX05312;EAX05313;NP_001160132;NP_061850;NP_851820;Q9NZ94 Hs.438877 2127146;5095056 NLGN4X;RH47725 ASPGX1;AUTSX1;HNL3;KIAA1480 OTTHUMP00000023498;OTTHUMP00000023499;OTTHUMP00000023500;gliotactin homolog;neuroligin-3 APPROVED protein-coding ENSG00000196338 14289 02275 300336;300425;300494 REVIEWED 1603020 NLGN4X neuroligin 4, X-linked This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs, large (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] X X p22.33 5818083 6156706 - 5808083 6146706 - 6480464 18093521;11368788;12669065;15150161;17292328;19645625;19598235;19125102;19058789;18628683;18231125;18189281;18029348;16648374;16508939;16077734;15622415;15489334;15389766;15340161;15274046;14963808;14702039;12975309;12477932;10996085;10574462;9278515;20543817;20714171;16377159;19545860;19726642;19736351;20436377;21278334;18227507;15620359;22948383;20301615;23431752 57502 Q8N0W4 AB033086;ABBA01044570;ABBA01044571;ABBA01044572;ABBA01044573;ABBA01044574;ABBA01044575;ABBA01044576;ABBA01044577;ABBA01044578;ABBA01044579;ABBA01044580;ABBA01044581;ABBA01044582;ABBA01044583;ABBA01044584;ABBA01044585;ABBA01044586;ABBA01044587;ABBA01044588;ABBA01044589;ABBA01044590;ABBA01044591;ABBA01044592;ABBA01044593;ABBA01044594;ABBA01044595;ABBA01044596;ABBA01044597;ABBA01044598;ABBA01044599;ABBA01044600;ABBA01044601;ABBA01044602;ABBA01044603;ABBA01044604;ABBA01044605;ABBA01044606;ABBA01044607;ABBA01044608;ABBA01044609;ABBA01044610;ABBA01044611;ABBA01044612;AC078989;AC079173;AC097259;AC112654;AF376803;AK022621;AK055471;AK291036;AMYH01022054;AMYH01022055;AX773938;AY358562;BC034018;BM995742;CH471074;NG_008881;NM_020742;NM_181332 AAH34018;AAM46112;AAQ88925;ABM84537;ABW03469;BAA86574;BAF83725;BAG51098;BAG51523;CAE06494;EAW98738;EAW98739;EAW98740;EAW98741;NP_065793;NP_851849;Q8N0W4 Hs.21107 1339765;1680282;1694782;1702532;1739467;1740331;1758245;1758961;1787348;2126591;2143699;2153463;2188385;2188409;5116832;7185695 DXS1118E;DXS7031E;DXS7042;DXS7538;DXS7979;DXS996;DXYS125;G43607;G66233;G66396;RH15923;SHGC-147783;SHGC-150657;SHGC-155196;sY3205 ASPGX2;AUTSX2;HLNX;HNL4X;HNLX;KIAA1260;MGC22376;NLGN;NLGN4 OTTHUMP00000022863;OTTHUMP00000022864;OTTHUMP00000022865;neuroligin X;neuroligin-4, X-linked APPROVED protein-coding ENSG00000146938 14287 02336 300427 REVIEWED 1351370 NLGN4Y neuroligin 4, Y-linked This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011] Y Y Y q11.221 3620431 3941794 + 15145848 15464921 + 16634488 16955848 + 1580863;6480464 17292328;19605777;18628683;18029348;16077734;15489334;12815422;12669065;12477932;10996085;10231032;8889548;18227507 22829 A6NMU8;B4DHI3;H0Y7G6;Q8NFZ3 AA558153;AB023168;ABBA01056959;ABBA01056960;ABBA01056961;ABBA01056962;ABBA01056963;ABBA01056964;ABBA01056965;ABBA01056966;ABBA01056967;ABBA01056968;ABBA01056969;ABBA01056970;ABBA01056971;ABBA01056972;ABBA01056973;ABBA01056974;ABBA01056975;ABBA01056976;ABBA01056977;ABBA01056978;ABBA01056979;ABBA01056980;ABBA01056981;ABBA01056982;ABBA01056983;ABBA01056984;ABBA01056985;ABBA01056986;ABBA01056987;ABBA01056988;AC010726;AC010879;AC010979;AC011903;AF376804;AK295117;BC032567;BC113525;BC113551;BF222878;BM722570;BX537428;CH471155;DC360504;NG_028212;NM_001164238;NM_001206850;NM_014893;NR_028319;NR_046355 AAH32567;AAI13526;AAI13552;AAM46113;BAA76795;BAG58145;CAD97670;EAW91620;EAW91621;EAW91622;EAW91623;EAW91624;EAW91625;NP_001157710;NP_001193779;NP_055708;Q8NFZ3 Hs.439199;Hs.694600 1678257;1680282;1694782;2113596;2126591;2143479;2188379;2188385;2188389;2188399;2188403;2188409;2188963;2188967;2188969;5022863;5095318;5095320;5095322;5095324;5095326;5115982;5116784;5116786;5116788;5116806;5116808;5116810;5116828;5116830;5116832;5116834 DXYS100;DXYS125;G43607;G66005;G66008;G66009;G66230;G66233;G66236;G66241;G66393;G66396;NLGN4Y-2;NLGN4Y-3;NLGN4Y-4;NLGN4Y-5-1;NLGN4Y-5-2;NLGN4Y-6;RH15923;RH48712;sY1239;sY1773;sY3181;sY3182;sY3183;sY3192;sY3193;sY3194;sY3203;sY3204;sY3205;sY3206 KIAA0951 OTTHUMP00000034786;OTTHUMP00000034787;OTTHUMP00000034788;OTTHUMP00000034789;OTTHUMP00000034790;neuroligin 4, Y linked;neuroligin Y;neuroligin-4, Y-linked APPROVED protein-coding ENSG00000165246 15529 11849 400028 REVIEWED 1321854 NLK nemo-like kinase 17 17 q11.2 23393815 23547534 + 26369688 26523407 + 1580863;6480464;6484113;6907045 16714285;15004007;18765672;17418100;16713569;16344560;15764709;15489334;15308626;15082531;14960582;14720327;12901858;12556497;12482967;12477932;12107411;11707333;10863097;10524757;9448268;8889548;20141612;19322201;22253297;21454679;17894482;18029348;19345186;19514049;19690946;20061393;20118921;20379614;20844743;16055500;20512928;17952062;21118996;20874444;21177110;18624398;22027747;21988832;22733362;20194509;17513757 51701 H0YD75;J3QSE9;Q9UBE8 ABBA01015063;AC061975;AC090287;AC100852;AF180819;AF197898;AK024686;AK315315;AL036279;AL161970;AMYH01008275;BC064663;BM723604;BQ636970;CH471159;DA224552;DA573077;DQ316259;NM_016231;U69562 AAD56013;AAF04857;AAH64663;ABC40748;BAG37718;EAW51060;EAW51061;EAW51062;EAW51063;NP_057315;Q9UBE8 Hs.208759 1679610;1680958;1683565;1686646;1686911;1688749;1726255;1728967;1796410;2122692 D2Abb1e;G42374;NLK_1472;RH39278;RH39318;RH39363;RH39425;RH65186;RH65664;UniSTS:28825 DKFZp761G1211;FLJ21033 OTTHUMP00000163282;OTTHUMP00000163283;nemo like kinase;serine/threonine-protein kinase NLK protein-coding ENSG00000087095 29858 17637 609476 VALIDATED 1604212 NLRC3 NLR family, CARD domain containing 3 The protein encoded by this gene is a cytosolic regulator of innate immunity. The encoded protein contains several leucine-rich repeat domains and may be involved in regulating T-cell activation. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2013] 16 16 16 p13.3 3795793 3834163 - 3529034 3567393 - 3589033 3627392 - 15705585;12766759;22718770;22863753;12477932;17925653;22505724 197358 B5MDB6;C3VPR7;C9JLH9;H3BLT9;Q7RTR2 ABBA01026740;ABBA01026741;ABBA01026742;ABBA01026743;AC004494;AC006111;AF501291;AF501292;AK074109;AK090431;AK090476;AMYH01007094;AY601811;BC027864;BK001112;CH471112;FJ889357;NG_033123;NM_178844;NR_075083 AAM22459;AAM22460;AAT48367;ACP40993;BAB84935;BAC03412;BAC03457;DAA01245;EAW85348;EAW85349;EAW85350;EAW85351;NP_849172;Q7RTR2 Hs.592091 1770032;1778981;2112916;5014740;5037552;5037760;5117897 D16S3380;D16S3381;D17S610;D8S2279;GDB:631813;SHGC-60735;SHGC-61133 CLR16.2;FLJ00348;NOD3 CARD15-like protein;NOD-like receptor C3;caterpiller 16.2;caterpiller protein 16.2;nucleotide-binding oligomerization domain protein 3;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3;protein NLRC3 protein-coding ENSG00000167984 29889 17639 REVIEWED 731408 NLN neurolysin (metallopeptidase M3 family) This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010] 5 5 q12.3 65053841 65155149 + 65018023 65125111 + 1580863;6480464;6907045 17251185;14702039;12609826;12477932;12168954;10574462;10235115;9735321;9257187;9003076;8869556;7836437;18316326;20379614;20877624;21832049;22939629;21139048;21906983 57486 D6R9Y0;E9PCB6;H0YAF7;H0YAK4;Q9BYT8 AB033052;ABBA01048324;AC008958;AC016643;AJ300837;AK026655;AK027602;AK096416;AK292803;AL834241;AMYH01015135;BC001644;BC004985;CA441264;CB992921;CH471137;NM_020726 AAH01644;AAH04985;BAA86540;BAB55224;BAF85492;BAG53285;BAG72651;CAC27329;CAD38918;EAW51338;EAW51339;EAW51340;NP_065777;Q9BYT8 Hs.247460 1649976;1697966;1848190;1849951;2152208;2157175;2158577;2170548;2170550;2219186;5015404;5015861;5016478;5020274;5020948;5022651;5037552;5127135;7185938 1076;A005B09;AL010026;D10S16;D11S2921;D5S1656E;D5S514E;D8S2279;G20238;G35510;GDB:434012;L17705;L18441;NLN__6061;RH102512;RH48357;RH68646;SHGC-36641 AGTBP;DKFZp564F123;EP24.16;FLJ23002;KIAA1226;MEP;MOP OTTHUMP00000123454;OTTHUMP00000222587;OTTHUMP00000222651;angiotensin binding protein;angiotensin-binding protein;endopeptidase 24.16;microsomal endopeptidase;mitochondrial oligopeptidase M;neurolysin, mitochondrial;neurotensin endopeptidase APPROVED protein-coding ENSG00000123213 16058 07495 611530 REVIEWED 1353277 NLRP13 NLR family, pyrin domain containing 13 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP13, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53451672 53488081 - 61099123 61135514 - 56407311 56443702 - 1580863;6480464 19074885;12766759;22610502;12563287;20403135 126204 Q86W25 ABBA01020854;AC011470;AC012310;AMYH01010011;AY154468;BK001108;CH471135;NM_176810 AAI46296;AAI48743;AAO18164;DAA01241;EAW72419;EAW72420;NP_789780;Q86W25 Hs.446924 CLR19.7;NALP13;NOD14;PAN13 NACHT, LRR and PYD containing protein 13;NACHT, LRR and PYD domains-containing protein 13;OTTHUMP00000237035;nucleotide-binding oligomerization domain protein 14;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 APPROVED protein-coding ENSG00000173572 22937 14804 609660 VALIDATED 1315283 NLRP14 NLR family, pyrin domain containing 14 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7160740 7211803 + 6998276 7049333 + 7041700 7092757 + 1580863;6480464 16931801;19074885;16344560;12766759;12563287;20379614;20403135 338323 Q86W24 ABBA01028675;ABBA01028676;AC100875;AK310900;AMYH01003368;AY154469;BK001107;CH471064;DB226777;NM_176822 AAI56269;AAO18165;DAA01240;EAW68666;EAW68667;EAW68668;NP_789792;Q86W24 Hs.449637 2219970 NALP14__6210 CLR11.2;GC-LRR;NALP14;NOD5;PAN8 NACHT, LRR and PYD containing protein 14;NACHT, LRR and PYD domains-containing protein 14;NACHT, leucine rich repeat and PYD containing 14;OTTHUMP00000230007;nucleotide-binding oligomerization domain protein 5;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14 APPROVED protein-coding ENSG00000158077 22939 11383 609665 REVIEWED 1604572 NLRC5 NLR family, CARD domain containing 5 This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011] 16 16 16 q13 41523685 41617251 + 55580911 55674937 + 57050986 57117436 + 6480464 14702039;12615073;12477932;22490867;22490869;20061403;20434986;20571754;20610642;20639463;20538593;21347282;21191067;10737800;16344560;23505323;22024701;22310711;22688191;22412192;22505724;23212062 84166 F5GYP0;F5H274;H0YF88;H0YFG4;H0YFT1;H0YFT3;H0YG32;H0YGE2;H0YGM1;H0YGT6;H0YGV6;Q6MZW3;Q969L7;Q9H6Y0 AA722775;ABBA01025258;ABBA01025259;ABBA01025260;ABBA01025261;ABBA01025262;AC009090;AC023825;AF389420;AK025212;AK025362;AK027414;AK027416;AK074133;AK074182;AK090439;AK097030;AL704292;AMYH01007694;BC040278;BC050527;BC063566;BI061907;BM463398;BM993764;BX640842;CH471092;DB293035;EF452236;HA637642;NG_030337;NM_032206 AAH50527;AAH63566;AAI56513;AAI72510;AAO59377;ABO40479;BAB15120;BAB55096;BAB55098;BAB84959;BAB85008;BAC03420;CAE45914;CAZ39543;EAW82898;EAW82899;EAW82900;EAW82901;EAW82902;NP_115582;Q86WI3 Hs.528836 1689570;1738555;1854974;1854976 D16S2726;D16S3209;RH65291;SHGC-60981 CLR16.1;FLJ21709;FLJ39711;NOD27;NOD4 NOD-like receptor C5;OTTHUMP00000164675;OTTHUMP00000238063;caterpiller protein 16.1;nucleotide-binding oligomerization domain protein 27;nucleotide-binding oligomerization domain protein 4;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5;nucleotide-binding oligomerization domains 27;protein NLRC5 APPROVED protein-coding ENSG00000140853 29933 14831 613537 REVIEWED 1320383 NLRC4 NLR family, CARD domain containing 4 In C. elegans, Ced4 binds and activates Ced3, an apoptotic initiator caspase, via caspase-associated recruitment domains (CARDs). Human Ced4 homologs include APAF1 (MIM 602233), NOD1/CARD4 (MIM 605980), and NOD2/CARD15 (MIM 605956). These proteins have at least 1 N-terminal CARD domain followed by a centrally located nucleotide-binding domain (NBD or NACHT) and a C-terminal regulatory domain, found only in mammals, that contains either WD40 repeats or leucine-rich repeats (LRRs). CARD12 is a member of the Ced4 family and can induce apoptosis.[supplied by OMIM, Mar 2008] 2 2 p22-p21 32303022 32344305 - 32449518 32490812 - 1580863;6480464;6907045 15882992;11472070;15107016;15030775;11374873;18453601;17620097;16817903;15580302;15528373;15489334;14702039;12975309;12545166;12477932;11390368;12646168;17418785;20349122;15174051;23215645;23012363;20085538;21918512;22227487;22547706 58484 Q9NPP4 ABBA01074881;ABBA01074882;AF376061;AK095467;AK292673;AK314762;AL121653;AL389934;AMYH01010229;AW337918;AY027787;AY027788;AY027789;AY027790;AY032589;AY035391;AY358152;BC031555;CH471053;DN998613;NM_001199138;NM_001199139;NM_021209 AAH31555;AAK14776;AAK14777;AAK14778;AAK14779;AAK38730;AAK53443;AAK59843;AAQ88519;ACE86796;ACE87483;BAF85362;BAG37300;BAG53062;CAB97523;EAX00451;EAX00452;EAX00453;EAX00454;EAX00455;NP_001186067;NP_001186068;NP_067032;Q9NPP4 Hs.574741 1699754;1713977;2107909 CARD12_8077;RH103483;RH119418 CARD12;CLAN;CLAN1;CLANA;CLANB;CLANC;CLAND;CLR2.1;IPAF CARD, LRR, and NACHT-containing protein;ICE-protease activating factor;NLR family CARD domain-containing protein 4;NOD-like receptor C4;OTTHUMP00000201170;OTTHUMP00000201171;OTTHUMP00000201172;OTTHUMP00000201173;caspase recruitment domain family, member 12;caspase recruitment domain-containing protein 12;ice protease-activating factor;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4 APPROVED protein-coding ENSG00000091106 16412 06014 606831 VALIDATED 1605822 NLRP2P NLR family, pyrin domain containing 2 pseudogene X X X p11.21 61556981 61560675 - 57719936 57723438 - 57703251 57706713 - 12766759 286430 ABBA01069295;ABBA01069296;AL807813;AMYH01022464;BK001116;NG_002752 NALP2P;NOD24 pseudo 29887 INFERRED 1606100 NLRP3P NLR family, pyrin domain containing 3 pseudogene X X X q22.3 107688508 107690252 + 107103687 107105431 + 107217124 107228221 - 347402 ABBA01035959;ABBA01035960;AL034399;AMYH01022834;BK001115;NG_002753 NOD13 pseudo 29886 VALIDATED 1322162 NLRP1 NLR family, pyrin domain containing 1 This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 17 17 p13.2 5345443 5428556 - 5404719 5487832 - 5490211;6480464;6907045;7240710 20303873 15212762;11076957;16575408;19074885;19001869;18946481;18348116;18263805;17637824;17620097;17418785;17377159;17164409;14702039;14691733;14527388;12563287;12477932;12191486;11592035;11472070;11270363;11250163;11113115;10231032;9110174;8781126;8619474;21976003;15749123;15107016;22524199;22665479;21331694;19913121;20574744;20628086;20697295;19120479;19223160;19727120;20152874;20370570;20379614;20403135;20502346;20800603;21098108;19337385;21252346;21149496;21245836;21376416;21946017;22507623;22087307;22117610;22227487;22235789;15174051;23382179;23253924;23053059 22861 E9PE50;I3L0S2;I3L2G5;Q9C000;Q9H5Z7 AB023143;ABBA01054817;ABBA01054818;AC055839;AF229059;AF229060;AF229061;AF229062;AF298548;AF310105;AI819334;AK026393;AK026398;AK310936;AL117470;AMYH01008051;AMYH01008052;BP391071;CH471108;CQ971704;FB659864;NG_011651;NM_001033053;NM_014922;NM_033004;NM_033006;NM_033007 AAG15254;AAG30288;AAK00748;AAK00749;AAK00750;AAK00751;BAA76770;BAB15469;BAB15470;CAB55945;CAI40574;CAS01786;EAW90321;EAW90322;EAW90323;EAW90324;EAW90325;EAW90326;EAW90327;NP_001028225;NP_055737;NP_127497;NP_127499;NP_127500;Q9C000 Hs.652273 1298244;1340002;1645768;1654401;1712272;1716205;1758401;2180098 D17S1303;D17S974;G54044;RH121127;RH78691;SGC31897;SHGC-148247;STS-H51285 CARD7;CIDED;CLR17.1;DEFCAP;DEFCAP-L/S;DKFZp586O1822;KIAA0926;NAC;NALP1;PP1044;SLEV1;VAMAS1 NACHT, LRR and PYD containing protein 1;NACHT, LRR and PYD domains-containing protein 1;NACHT, leucine rich repeat and PYD (pyrin domain) containing 1;caspase recruitment domain protein 7;caspase recruitment domain-containing protein 7;death effector filament-forming Ced-4-like apoptosis protein;nucleotide-binding domain and caspase recruitment domain;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 APPROVED protein-coding ENSG00000091592 14374 07364 606579;606636;615225 REVIEWED 1316559 NLRP10 NLR family, pyrin domain containing 10 Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 8096691 8100602 - 7937732 7941635 - 7981156 7985059 - 1580863;6480464 12766759;15817483;15489334;15096476;12563287;12477932;19544093;20403135;20393137;19762545;22672233;22365966;23042114 338322 E9PPY0;Q86W26 ABBA01028684;AC044810;AMYH01003373;AY154465;AY489192;BC104957;BK001110;CH471064;NM_176821 AAI04958;AAO18161;AAS67384;DAA01243;EAW68640;NP_789791;Q86W26 Hs.449636 CLR11.1;NALP10;NOD8;PAN5;PYNOD NACHT, LRR and PYD domains-containing protein 10;OTTHUMP00000230689;nucleotide-binding oligomerization domain protein 8;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10 APPROVED protein-coding ENSG00000182261 21464 14802 609662 REVIEWED 1348361 NLRP5 NLR family, pyrin domain containing 5 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 53555479 53617543 + 61202904 61264988 + 56511092 56573176 + 1580863;6480464 19192343;19074885;18322283;12563287;11925379;19542546;20379614;20403135;20734064;21139048 126206 M0R0W4;P59047 ABBA01020846;ABBA01020847;ABBA01020848;ABBA01020849;ABBA01020850;AC011470;AC024580;AMYH01010013;AMYH01010014;AY054986;AY154460;NM_153447 AAI41432;AAL15549;AAO18156;NP_703148;P59047 Hs.356872 2219972 NALP5__6211 CLR19.8;MATER;NALP5;PAN11;PYPAF8 NACHT, LRR and PYD domains-containing protein 5;NACHT, leucine rich repeat and PYD containing 5;OTTHUMP00000195023;mater protein homolog;maternal antigen that embryos require;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 APPROVED protein-coding ENSG00000171487 21269 10111 609658 REVIEWED 1350327 NLRP6 NLR family, pyrin domain containing 6 The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 11 11 11 p15 273910 280645 - 268570 275304 + 278570 285304 + 1580863;6480464 12633874;12563287;12387869;12019269;20237496;20403135;22503597;11984003;15203218;18413781;20923861;7489366;9095083;22139419 171389 E9PJZ8;P59044 ABBA01011168;AC136475;AF479748;AK292668;AMYH01003276;AY154461;CD636365;CH471278;NM_001276700;NM_138329 AAL87105;AAO18157;BAF85357;EAW61233;NP_001263629;NP_612202;P59044 Hs.352611 AVR;CLR11.4;NALP6;NAVR;NAVR/AVR;PAN3;PYPAF5 NACHT, LRR and PYD containing protein 6;NACHT, LRR and PYD domains-containing protein 6;NACHT, leucine rich repeat and PYD containing 6;OTTHUMP00000147611;OTTHUMP00000230691;PYRIN-containing APAF1-like protein 5;angiotensin II/vasopressin receptor;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 APPROVED protein-coding ENSG00000174885 22944 14806 609650 REVIEWED 1347943 NLRP8 NLR family, pyrin domain containing 8 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP8, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53503590 53544386 + 61151010 61191807 + 56459198 56499995 + 6480464 22610502;19074885;12766759;12563287;20379614;20403135;23251661 126205 Q86W28 ABBA01020852;ABBA01020853;ABBA01020854;AC011470;AMYH01010011;AMYH01010012;AY154463;BK001109;NM_176811 AAI48609;AAI53175;AAO18159;DAA01242;NP_789781;Q86W28 Hs.446925 2219974;5017433 NALP8__6212;STS-T76997 CLR19.2;NALP8;NOD16;PAN4 NACHT, LRR and PYD containing protein 8;NACHT, LRR and PYD domains-containing protein 8;PYRIN and NACHT-containing protein 4;nucleotide-binding oligomerization domain protein 16;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8 APPROVED protein-coding ENSG00000179709 22940 14807 609659 PROVISIONAL 1349443 NLRP11 NLR family, pyrin domain containing 11 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53341920 53393276 - 60988577 61035172 - 56296763 56348128 - 1580863;6480464 12387869;12019269;19010793;15489334;14702039;12615073;12563287;12477932;19074885;20403135;21890473;21906983;22267201;23307926;23377640 204801 K7EMN8;K7EQV0;K7ESF9;P59045 ABBA01020854;AC008749;AC012310;AK090621;AK129784;AK310394;AMYH01010009;AY095145;AY154466;AY168967;AY168968;AY226382;BC034730;BC036506;BU622142;CH471135;NM_145007 AAH34730;AAM14632;AAO12532;AAO12533;AAO18162;AAO59428;BAC03490;EAW72415;EAW72416;NP_659444;P59045 Hs.375039 1783818 SHGC-153591 CLR19.6;FLJ26273;NALP11;NOD17;PAN10;PYPAF6;PYPAF7 NACHT, LRR and PYD containing protein 11;NACHT, LRR and PYD domains-containing protein 11;PAAD- and NACHT-containing protein 10;PAAD- and NACHT-containing protein 10B;PAAD-and NACHT domain-containing protein 10;PYRIN-containing APAF1-like protein 6;nucleotide-binding oligomerization domain protein 17;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 APPROVED protein-coding ENSG00000179873 22945 10110 609664 VALIDATED 1604698 NLRP9P NLR family, pyrin domain containing 9 pseudogene 12 12 12 q24.33 129111063 129114941 + 128063805 128067640 + 129497829 129501711 + 12766759;22773346 347933 ABBA01019776;AC069262;AMYH01004870;BK001117;NG_002754 NOD25 pseudo 29888 INFERRED 1319748 NLRP12 NLR family, pyrin domain containing 12 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 19 19 q13.42 58988650 59019404 - 54296838 54327648 - 1580863;6480464;7240710 12019269;16203735;18263805;18230725;18160710;17947705;17620097;17237370;15489334;14702039;12759408;12563287;12477932;11167794;19913121;20628086;20403135;21048031;19337385;21360512;16344560;19234190;22427013;21538323;21978668;20467438;17046979 91662 A8MTQ2;B3KTE7;C9JK73;C9JZX9;F5H0E4;P59046 ABBA01068193;ABBA01068194;ABBA01068195;ABBA01068196;ABBA01068197;ABBA01068198;ABBA01068199;ABBA01068200;AC008753;AF231021;AK095460;AK290772;AMYH01009965;AY095146;AY116204;AY116205;AY116206;AY116207;AY154467;BC028069;CH471135;DA619102;NG_008651;NM_001277126;NM_001277129;NM_033297;NM_144687 AAH28069;AAK14942;AAM18227;AAM75142;AAM75143;AAM75144;AAM75145;AAO18163;ABM82010;ABM85192;BAF83461;BAG53059;EAW72151;EAW72152;EAW72153;EAW72154;EAW72155;EAW72156;EAW72157;NP_001264055;NP_001264058;NP_150639;NP_653288;P59046 Hs.631573 1336677;1764961;2166838;5020229;5022651;5024756 D11S2921;D19S927;G36162;L17770;RH80030;SHGC-148518 CLR19.3;FCAS2;NALP12;PAN6;PYPAF7;RNO;RNO2 NACHT, LRR and PYD containing protein 12;NACHT, LRR and PYD domains-containing protein 12;OTTHUMP00000067226;OTTHUMP00000067227;OTTHUMP00000067228;OTTHUMP00000067229;PYRIN-containing APAF1-like protein 7;monarch 1;monarch-1;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12;regulated by nitric oxide APPROVED protein-coding ENSG00000142405 22938 14803 609648;611762 REVIEWED 1347751 NM neutrophil migration 7240710 4827 7841 269921;600737;605820 1318014 NLRP3 NLR family, pyrin domain containing 3 This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008] 1 1 q44 245646098 245679033 + 247579458 247612410 + 1600862;1580863;5490211;5490210;6480464;6907045;7240710 11687797;20303873;19302047 18063752;18005730;17907925;17763411;17697637;17620097;17599094;17592301;17393462;17284928;17213252;17178985;17164409;17164343;17046979;16868559;16710414;16642435;16344560;16234278;16037825;15593220;15334500;15071491;15020601;14630794;12673085;12615073;12563287;12522564;12483741;12477932;12355493;11992256;11967258;15967716;15030775;12032915;12093792;14662828;11786556;19454352;19414800;19364881;19319132;19254587;19201894;19098911;19058789;19001869;18772453;18576390;18311798;18263599;18189199;18175851;18174231;18084703;18080732;22541070;11042152;10741953;9653160;15107016;22227418;22403613;22524199;23264657;23315075;21342182;19913121;20179743;20628086;18719602;19120479;19120481;19223160;19570822;19579027;19648107;19767079;19784369;19805629;19811501;19826485;19890791;20002790;20011700;20031576;20038581;20060594;20131254;20131270;20182451;20237496;20370570;20403135;20421639;20502346;20008285;19824913;20407038;20135584;20506209;20884650;20980503;20148899;20800603;20962258;21035374;22490866;21051542;20401456;20401526;20668705;20688930;20808838;19337385;20384614;21124315;21109514;20368800;21124859;21245836;21217695;21058222;21300955;21315400;22497426;23066025;23254930;21876553;22698681;22843550;21241317;21508263;22146561;22796220;22981536;22984081;22984082;21566220;23430110;23582325;21560198;21451572;21646297;22948162;21550598;22933241;22522430;23427152;23530046;21637346;21940629;21971358;22102247;21940680;21994456;21394384;21880711;21930705;21978001;21621776;22325453;21421008;22227487;23206693;23015306;22461501;22276187;22295065;17435760;19158675;22558425;16531551;22128899;22723549;22503597;22997256;23271661;23440695;22933232;23110140;23171454;23280543;22112657;23209696;22935299;12766759;22529966;22608495;22768094;22904305;23086037;23211828;23221073 114548 B2RC97;Q6TG35 AB120959;AB120960;AB120961;AB120962;AB208891;ABBA01031787;ABBA01031788;AC104335;AF054176;AF410477;AF418985;AF420469;AF427617;AF468522;AK027194;AK314998;AL601856;AL606804;AMYH01001912;AY051112;AY051117;AY092033;AY422168;BC117211;BC143359;BC143362;BC143363;CH471148;DA244290;NG_007509;NM_001079821;NM_001127461;NM_001127462;NM_001243133;NM_004895;NM_183395 AAC39910;AAI17212;AAI43360;AAI43363;AAI43364;AAL12497;AAL12498;AAL14640;AAL33908;AAL33911;AAL65136;AAL78632;AAM14669;AAQ98889;BAD51451;BAD51452;BAD51453;BAD51454;BAD92128;BAG37494;EAW77183;EAW77184;EAW77185;EAW77186;EAW77187;NP_001073289;NP_001120933;NP_001120934;NP_001230062;NP_004886;NP_899632;Q96P20 Hs.159483 1336367;2186952 D1S2215;SHGC-76649 AGTAVPRL;AII;AII/AVP;AVP;C1orf7;CIAS1;CLR1.1;FCAS;FCU;FLJ95925;MWS;NALP3;PYPAF1 AII/AVP receptor-like;NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3;NACHT, LRR and PYD containing protein 3;NACHT, LRR and PYD domains-containing protein 3;OTTHUMP00000038408;OTTHUMP00000038409;OTTHUMP00000038410;OTTHUMP00000038411;OTTHUMP00000230825;PYRIN-containing APAF1-like protein 1;angiotensin/vasopressin receptor AII/AVP-like;caterpiller protein 1.1;cold autoinflammatory syndrome 1;cold autoinflammatory syndrome 1 protein;cryopyrin;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 APPROVED protein-coding ENSG00000162711 16400 05915 120100;191900;606416;607115 REVIEWED 1319070 NLRP9 NLR family, pyrin domain containing 9 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 53262092 53294502 - 60911610 60941580 - 56219798 56249768 - 1580863;6480464 12766759;12563287;12477932;20403135;23377640 338321 Q7RTR0 ABBA01020858;ABBA01020859;AC008749;AMYH01010007;AMYH01010008;AY154464;BC136583;BK001114;CH471135;NM_176820 AAI36584;AAO18160;DAA01247;EAW72411;EAW72412;NP_789790;Q7RTR0 Hs.661568 1758445 SHGC-148354 CLR19.1;NALP9;NOD6;PAN12 NACHT, LRR and PYD containing protein 9;NACHT, LRR and PYD domains-containing protein 9;NACHT, leucine rich repeat and PYD containing 9;PYRIN and NACHT-containing protein 12;nucleotide-binding oligomerization domain protein 6;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9 APPROVED protein-coding ENSG00000185792 22941 14808 609663 REVIEWED 1604725 NLRP7 NLR family, pyrin domain containing 7 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.42 60126689 60150679 - 55434877 55458873 - 6480464 19066229;18751440;18039680;17579354;22169519;16874523;16501554;16462743;15817483;15596043;15057824;12766759;12563287;12477932;12387869;12019269;10072436;19246479;19650864;19888692;20403135;20800603;20870286;22770628;21623199;21421271;21659348;22315435;21507883;22130487;21439709;21906983;23125094;21948117;22361007;22025618;22646272;22909446;17046979;23128233;23201303 199713 E7EPM2;K7EP54;K7EPY3;K7ER92;K7ERG0;Q8WX94 ABBA01068146;ABBA01068147;AC011476;AF464765;AK298630;AK302655;AK313964;AMYH01009976;AY154462;BC109124;BC109125;BK001113;BX363944;CH471135;CU151839;CU459006;DC425389;NG_008056;NM_001127255;NM_139176;NM_206828 AAI09125;AAI09126;AAL69963;AAO18158;BAG60806;BAG63894;DAA01246;EAW72313;EAW72314;EAW72315;EAW72316;NP_001120727;NP_631915;NP_996611;Q8WX94 Hs.351118 1340309;1340929;1789274 D19S890;D19S924;G67808 CLR19.4;FLJ94610;HYDM;MGC126470;MGC126471;NALP7;NOD12;PAN7;PYPAF3 NACHT, LRR and PYD containing protein 7;NACHT, LRR and PYD domains-containing protein 7;NACHT, leucine rich repeat and PYD containing 7;PYRIN-containing Apaf1-like protein 3;nucleotide-binding oligomerization domain protein 12;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 APPROVED protein-coding ENSG00000167634 22947 10112 609661 REVIEWED 1353012 NMD3P1 NMD3 ribosome export adaptor pseudogene 1 7 7 7 q11.21 57088181 57089673 - 63006773 63008265 - 63369338 63370830 - 441238 ABBA01027966;AC092634;AMYH01017427;NG_016698 NMD3P APPROVED pseudo 22672 INFERRED 3277425 NMD3P2 NMD3 ribosome export adaptor pseudogene 2 7 7 p11.2 67676432 67677192 - 56569977 56570737 - 100286929 ABBA01061872;AC092447;AMYH01017285;NG_022534 APPROVED pseudo 37820 INFERRED 1323147 NLRP4 NLR family, pyrin domain containing 4 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 19 q13.43 53393092 53437580 + 61055199 61085033 + 56347944 56393221 + 6480464 19074885;15489334;15107016;14702039;12563287;12477932;12387869;12093792;12019269;12182447;20403135;21209283;17435760;22388039;22928810 147945 B2RCA1;J9JIE2;K7ES09;K7ESK5;Q96MN2 ABBA01020854;AC012310;AF442488;AF479747;AF482706;AK056688;AK315003;AMYH01010009;AMYH01010010;AMYH01010011;AY072792;BC012789;BC016443;BC021272;BC050326;BE302040;BU632773;CH471135;NM_134444 AAH16443;AAH50326;AAL35293;AAL68396;AAL87104;AAL88672;BAB71254;BAG37498;EAW72417;EAW72418;NP_604393;Q96MN2 Hs.631533 1678867;5125828 G31875;RH92203 CLR19.5;CT58;FLJ32126;NALP4;PAN2;PYPAF4;RNH2 NACHT, LRR and PYD containing protein 4;NACHT, LRR and PYD domains-containing protein 4;NACHT, leucine rich repeat and PYD containing 4;PAAD and NACHT-containing protein 2;PYRIN and NACHT-containing protein 2;PYRIN-containing APAF1-like protein 4;cancer/testis antigen 58;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4;ribonuclease inhibitor 2 APPROVED protein-coding ENSG00000160505 22943 09619 609645 VALIDATED 1344725 NLRP2 NLR family, pyrin domain containing 2 NALP proteins, such as NALP2, are characterized by an N-terminal pyrin (MIM 608107) domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors (see TLR4; MIM 603030). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM, Mar 2008] 19 19 q13.42 60169579 60204318 + 55476652 55512510 + 1580863;6480464 15030775;19534089;19300480;19103770;19074885;18772453;18369178;18056399;15817483;15489334;15456791;14702039;12563287;12477932;12387869;12019269;11270363;11250163;8125298;17435760;16344560;17178784;19900269;20403135;20800603;21832049;18285453;21976665;21906983;17420470;22909446;17046979;23128233 55655 F5GYZ4;F5H5B1;F5H7Q5;H0YH35;J3KN39;K7EJ90;K7ELX1;K7EMK2;K7EPE6;Q9HAV9 AB209300;ABBA01068137;ABBA01068138;ABBA01068139;ABBA01068140;ABBA01068141;ABBA01068142;AC011476;AF269288;AF298547;AF310106;AF464764;AK000517;AK000784;AK025952;AK223253;AK223269;AK292681;AK302989;AMYH01009976;AMYH01009977;AMYH01009978;BC001039;BC003592;BC039269;CH471135;CU151839;DA856893;DB046128;NM_001174081;NM_001174082;NM_001174083;NM_017852 AAG15253;AAG23171;AAG30289;AAH01039;AAH03592;AAH39269;AAL69962;ABM85995;ABW03764;BAA91223;BAA91377;BAB15293;BAD92537;BAD96973;BAD96989;BAF85370;BAG64129;EAW72317;EAW72318;EAW72319;EAW72320;NP_001167552;NP_001167553;NP_001167554;NP_060322;Q9NX02 Hs.369279 1341189;1647466;1734652 D19S654E;D19S926;RH47501 CLR19.9;FLJ20510;NALP2;NBS1;PAN1;PYPAF2 NACHT, LRR and PYD containing protein 2;NACHT, LRR and PYD domains-containing protein 2;OTTHUMP00000236775;OTTHUMP00000236776;OTTHUMP00000236777;OTTHUMP00000236779;OTTHUMP00000236780;PYRIN domain and NACHT domain-containing protein 1;PYRIN-containing APAF1-like protein 2;nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2;nucleotide-binding site protein 1 APPROVED protein-coding ENSG00000022556 22948 14805 609364 VALIDATED 6480939 NME1P1 NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1 13 22673302 22673692 - 100874501 ABBA01068615;AL136962;AMYH01004965;NG_032368 APPROVED pseudo 39904 INFERRED 1606225 NLRX1 NLR family member X1 This gene encodes a member of the NLR family. Alternative splicing has been observed at this gene locus and two transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 116199239 116214520 + 118544650 118559935 + 119039440 119054725 + 6480464;6907045 18219313;18200010;14702039;12766759;12477932;8125298;22718770;22610944;22939629;19913121;20628086;18466630;18397740;19692591;20877624;20959452;22386589;21703539;21903422;22749352 79671 C9J0R6;C9JLK8;C9JQE9;Q86UT6 AB094095;ABBA01039677;ABBA01039678;AK025131;AK056454;AK095247;AK225223;AK291716;AK303002;AL049456;AMYH01004080;AP002956;AY245437;BC013199;BC023974;BC110890;BK001111;BX647705;CH471065;EF452237;NM_024618;NM_170722 AAH13199;AAI10891;AAP31240;ABO40480;BAB15075;BAC76049;BAF84405;BAG51714;BAG53014;BAH13875;CAH56420;DAA01244;EAW67467;EAW67468;EAW67469;NP_078894;NP_733840;Q86UT6 Hs.524082 1650899;2160089 G17564;WI-16056 CLR11.3;DLNB26;FLJ21478;MGC131937;MGC21025;NOD26;NOD5;NOD9 NLR family member X1;NLR family, X1;NOD-like receptor X1;OTTHUMP00000205767;OTTHUMP00000205768;OTTHUMP00000205769;OTTHUMP00000205770;caterpiller protein 11.3;nucleotide-binding oligomerization domain protein 26;nucleotide-binding oligomerization domain protein 5;nucleotide-binding oligomerization domain protein 9;nucleotide-binding oligomerization domain, leucine rich repeat containing X1 APPROVED protein-coding ENSG00000160703 29890 17640 611947 REVIEWED 731785 NMBR neuromedin B receptor Neuromedin B receptor binds neuromedin B, a potent mitogen and growth factor for normal and neoplastic lung and for gastrointestinal epithelial tissue. [provided by RefSeq, Jul 2008] 6 6 q21-qter 142438438 142451629 - 142396745 142409936 - 1580863;6480464 7838118;8391296;15528253;12477932;10544247;9632639;8822519;8392057;8253343;7723750;1655761;18029348;21060863;20736409;16754659;18240029 4829 AAB27330;P28336 ABBA01025759;AL589674;AMYH01016716;BC095542;CH471051;GU727635;M73482;NM_002511 AAA59939;AAB27330;AAH95542;ADU87637;EAW47886;NP_002502;P28336 Hs.654478 1741325;2161986;2219188 D6S1240E;GDB:180463;NMBR__6062 NMB-R;OTTHUMP00000017317;epididymis tissue protein Li 185a;neuromedin-B receptor;neuromedin-B-preferring bombesin receptor APPROVED protein-coding ENSG00000135577 7843 01211 162341 VALIDATED 1354297 NME2P1 NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1 12 12 12 q24.31 120353054 120353746 + 119204323 119205015 + 120720021 120720668 + 1580863;6480464 8270257;7488060;21906983 283458 O60361 AC004263;AMYH01004799;CB993665;NG_027861;U85976 AAC05177;O60361 Hs.577804 1676111;1694622;1851978 G43341;RH70845;RH80623 APPROVED pseudo 31358 INFERRED 1315040 NMB neuromedin B 15 15 q22-qter 82999364 83002806 - 85198360 85201802 - 1580863;1642059;1642062;6480464 15585758;11194934 2458345;18271693;17766645;17299381;15528253;15489334;15158442;12477932;10544247;8392057;8253343;7851890;4041812;1720612;1717141;1488105;16754659;18240029;20010906;21527296 4828 P08949 ABBA01052944;AC048382;AL110112;AMYH01006869;BC007407;BC007431;BC008603;BI858080;BI962836;CH471101;M21551;NM_021077;NM_205858 AAA59934;AAH07407;AAH07431;AAH08603;EAX01950;EAX01951;NP_066563;NP_995580;P08949 Hs.386470 2158765;2169846 D15S940;D2S2557 MGC17211;MGC2277;MGC3936 OTTHUMP00000192890;OTTHUMP00000192891;neuromedin-B protein-coding ENSG00000197696 7842 01210 162340 VALIDATED 1642401 NME1-NME2 NME1-NME2 readthrough This locus represents naturally occurring read-through transcription between the neighboring NME1 and NME2 genes. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2010] 17 17 17 q21.3 45692176 45710358 + 46585919 46604104 + 49230897 49249105 + 6480464;6907045 16442775;12477932;11919189;16862176;17314099;17353931;18029348;1851158;20101217;8392752;20877624;11181995;20967262;22863883;20881960;22505724 654364 P22392 ABBA01041259;AC005839;AK313448;AMYH01008482;BC107894;BC133029;BC133031;BG388883;BI603164;CH471109;DQ109675;NM_001018136;NR_037149 AAI07895;AAI33030;AAI33032;AAZ82097;BAG36237;EAW94563;EAW94565;EAW94566;NP_001018146 Hs.463456 1676111;1694622;1742301;1770127;1851978;2157841 D17S1989;G43341;GDB:196135;RH68986;RH70845;RH80623 FLJ93990;NM23-LV;NME2;NMELV C-myc purine-binding transcription factor PUF;NDK B;NDP kinase B;NM23-LV;NME1-NME2 protein;NME1-NME2 readthrough transcript;OTTHUMP00000174725;OTTHUMP00000174726;nm23-H2;nucleoside diphosphate kinase B APPROVED protein-coding ENSG00000011052 33531 VALIDATED 1348373 NMD3 NMD3 ribosome export adaptor Ribosomes are composed of 60S and 40S subunits that are assembled in the nucleolus and exported to the cytoplasm through nuclear pore complexes in the nuclear envelope. NMD3 is an adaptor for 60S subunit export via the CRM1 (XPO1; MIM 602559) pathway (Trotta et al., 2003 [PubMed 12773398]).[supplied by OMIM, Mar 2008] 3 3 3 q26.1 159361412 159392199 + 162421793 162452489 + 160939099 160969795 + 6480464;6907045 15635413;14702039;12773398;12724356;12477932;10810093;8125298;18029348;19615732;23383273;22939629;21139048;21890473;21048991;22113938;23782956 51068 C9IY70;C9IZW9;C9J0B9;C9JA08;C9K0C2;Q96D46 ABBA01058790;AC108738;AF132941;AK021775;AK024706;AK094749;AK225664;AK296710;AK308865;AMYH01013616;BC013317;CH471052;NM_015938 AAD27716;AAH13317;ACE87085;ACE87765;BAG51047;BAG52923;BAG59303;EAW78618;EAW78619;NP_057022;Q96D46 Hs.598836 5096488 SHGC-77504 CGI-07;FLJ21053 60S ribosomal export protein NMD3;NMD3 homolog;OTTHUMP00000213964;OTTHUMP00000213965;OTTHUMP00000213966;hNMD3 APPROVED protein-coding ENSG00000169251 24250 13026 611021 PROVISIONAL 735393 NME1 NME/NM23 nucleoside diphosphate kinase 1 This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008] 17 17 q21.3 46585919 46594449 + 49230920 49239450 + 1580863;1600229;2299059;2299061;2299064;2299063;2299062;2299081;2299072;2299071;2299069;2299065;2299077;2299066;5133414;5132867;5132887;5134680;5133245;6480464;6484113;6907045;7240710 8047138;9663430;9036878;8605098;8618340;8855975;8621239;7518576;7614395;7622307;8636741;8102131;8519661;12678497;17492507;14559858;11768308;8978595 20560137;12972261;11555662;17314099;1851158;17975005;16862176;16130169;19186179;19183483;19026164;18996649;18815136;18810774;18728402;18700747;18676749;18668641;18635542;18470881;18440302;18408655;18330957;18301251;18239814;18219290;18154714;18089805;18058029;17918157;17885583;17695492;17688968;17655525;17591363;17359290;17348207;17197349;17155928;17103045;17008916;16957985;16944571;16891807;16814409;16739125;16631833;16531762;16466905;16415009;16317582;16313181;16277028;16232196;16189514;15882758;15870434;15833843;15777972;15757202;15684389;15650182;15645378;15592684;15568401;15512982;15489334;15334673;15280446;15129904;15073128;15040016;14960567;14664140;14499630;12910292;12883690;12859952;12684753;12669312;12628186;12624546;12601555;12524539;12490715;12477932;12474051;12452062;12405283;12200143;12174914;12163590;12137595;12135660;12105213;12007505;11998956;11963831;11960382;11935309;11919189;11918081;11835509;11776896;11726210;11687967;11319942;11280768;11274357;11042679;10618642;10611312;10602478;10512675;9593706;9513729;9488696;9480811;8858107;8810265;8395939;8392752;8270257;8245015;7916650;2566996;2509941;2056128;2015608;11231635;22035418;21273640;20570897;22349375;22531683;21169412;21469425;18307927;20877624;20209495;20671611;20145075;20403806;20559153;20713695;20841469;20955383;19664078;20599259;14558955;16011248;16044917;17578003;18029348;19024519;19060904;19170058;19263457;19332021;19513384;19615732;19619546;19655221;19664043;19724852;19852809;19951590;19956735;20099494;20101217;20113651;20304626;20508983;20448457;16848180;16739379;21350102;21085602;16759016;21270158;20959063;18476632;21121676;19624895;17283532;21045303;22421058;22869372;21478336;21081666;21846466;21176535;22863883;22903495;22939629;16196087;21442621;18457437;21265090;22364921;18781797;20639865;21913743;21987572;22451184;21139048;21769563;21906983;22429576;20301782;22290468;21448569;21484438;21553004;20872186;21080107;21221850;21575865;22328561;22718351;22683585;23158994;19805454;21890473;21963094;21988832;22053931;23000965;23137649;23583378;22505724;22920000 4830 C9K028;E5RHP0;E7ERL0;P15531 ABBA01041259;AC005839;AF487339;AK291105;AK309160;AL360166;AL360191;AMYH01008482;BC000293;BC018994;BE727815;BF965472;BG531372;BG715560;BG757842;BI666785;BM479520;BU600979;CH471109;CR542104;CR542115;NG_021169;NM_000269;NM_198175;X17620;X73066;X75598 AAH00293;AAH18994;AAO85436;BAF83794;CAA35621;CAA51527;CAA53270;CAG46901;CAG46912;EAW94568;NP_000260;NP_937818;P15531 Hs.463456 1742301;1770127;2157841 D17S1989;GDB:196135;RH68986 AWD;GAAD;NB;NBS;NDKA;NDPK-A;NDPKA;NM23;NM23-H1 NDK A;NDP kinase A;OTTHUMP00000174723;OTTHUMP00000174724;OTTHUMP00000174772;OTTHUMP00000224223;expressed in non-metastatic cells 1;granzyme A-activated DNase;metastasis inhibition factor nm23;non-metastatic cells 1, protein (NM23A) expressed in;nucleoside diphosphate kinase A;tumor metastatic process-associated protein APPROVED protein-coding ENSG00000239672 7849 01131 156490;256700 REVIEWED 1343010 NME5 NME/NM23 family member 5 5 5 5 q31 133572789 133596436 - 137478760 137503031 - 137450861 137475132 - 1580863;6480464;6907045 9742940;15489334;14499630;12477932;16189514;8889548;19447967;19852809;22564704 8382 P56597 ABBA01068692;ABBA01068693;ABBA01068694;ABBA01068695;ABBA01068696;AC113382;AF067724;AK312181;AMYH01015640;AMYH01015641;BC026182;BM979998;BX490554;CH471062;NM_003551;U90450;Y14992 AAC64358;AAC69440;AAH26182;BAG35114;CAA75226;EAW62163;EAW62164;NP_003542;P56597 Hs.730856 1673296;1681107;2107897;5124889 BRD8_7982;RH48032;RH93343;RH99254 NM23-H5;NM23H5;RSPH23 IPIA-beta;NDK-H 5;NDP kinase homolog 5;OTTHUMP00000159495;inhibitor of p53-induced apoptosis-beta;non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase);nucleoside diphosphate kinase homolog 5;radial spoke 23 homolog;testis-specific nm23 homolog APPROVED protein-coding ENSG00000112981 7853 04655 603575 VALIDATED 733554 NME3 NME/NM23 nucleoside diphosphate kinase 3 16 16 16 q13.3 2032596 2033985 - 1760322 1761711 - 1820321 1821710 - 1580863;1300048;5134680;6480464;6907045 11768308 11277919;7638209;17900511;16713569;16537434;16189514;15489334;12477932;11157797;11042679;9067290;16169070;19852809;20877624;21832049;21139048;21890473;21988832 4832 H3BMQ7;H3BPD9;H3BPR2;H3BRA8;Q13232 ABBA01030296;AC012180;AE006639;AK308663;AL031718;AMYH01007040;BC000250;BG911570;CH471112;NM_002513;U29656 AAA85097;AAH00250;AAK61291;ABM83441;ABW03498;CAB72319;EAW85629;NP_002504;Q13232 Hs.514065 1796354;2117786;2180351;2220256 AB071076;MRPS34_1407;RH36357;SHGC-64938 DR-nm23;KIAA0516;NDPK-C;NDPKC;NM23-H3;NM23H3;c371H6.2 NDK 3;NDP kinase 3;NDP kinase C;OTTHUMP00000158800;non-metastatic cells 3, protein expressed in;nucleoside diphosphate kinase 3;nucleoside diphosphate kinase C APPROVED protein-coding ENSG00000103024 7851 03488 601817 VALIDATED 1318408 NME4 NME/NM23 nucleoside diphosphate kinase 4 The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008] 16 16 16 p13.3 647739 651301 + 387193 390755 + 447192 450754 + 1580863;5134680;6480464;6907045 11768308 10799505;9099850;18604718;16189514;15616553;15489334;14702039;12477932;11831846;11157797;20877624;19852809;22990118;23150663;20811636;20186120;21139048;21988832;23446634 4833 A2IDC9;A2IDD0;F2Z297;F2Z2X0;H0Y6J0;O00746;Q4TT34 ABBA01030374;AE006463;AF086133;AK094439;AMYH01006992;BC004880;BC017067;BT019438;CH471112;NM_005009;Y07604;Z97634 AAH04880;AAH17067;AAK61230;AAV38245;ADZ15844;CAA68877;EAW85817;EAW85818;EAW85819;EAW85820;NP_005000;O00746 Hs.9235 1712072;1807090;1807354;1807356;1813464;2049352;2049354;2049356;2049358;2049360;2049362;2049364;2049366;2049368;2049370;2049372;2049374;2049376;2049378;2049380;2049382;2049384;2049386;2049388;2049390;2049392;2049394;2049396;2104744;2104746;2151594;5115107 ECD04510;ECD04648;ECD04649;ECD07753;G06857;G54084;REN95820;REN95821;REN95822;REN95823;REN95824;REN95825;REN95826;REN95827;REN95828;REN95829;REN95830;REN95831;REN95832;REN95833;REN95834;REN95835;REN95836;REN95837;REN95838;REN95839;REN95840;REN95841;REN95842;RH70775;stSG609096;stSG609097 NDPK-D;NM23H4;nm23-H4 NDK;NDP kinase D;NDP kinase, mitochondrial;NDPKD;OTTHUMP00000045639;OTTHUMP00000067466;OTTHUMP00000194917;OTTHUMP00000194919;OTTHUMP00000206530;non-metastatic cells 4, protein expressed in;nucleoside diphosphate kinase D;nucleoside diphosphate kinase, mitochondrial APPROVED protein-coding ENSG00000103202 7852 03489 601818 VALIDATED 1346564 NME2 NME/NM23 nucleoside diphosphate kinase 2 Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010] 17 17 q21.3 46597890 46604104 + 49242796 49249105 + 1580863;2299058;2299062;2299072;2299076;2299071;2299073;2299060;2299066;5132889;5133414;5132888;5134680;2299081;6480464;6907045 17272673;8855975;7518576;7693635;7614395;7907945;9334657;8519661;14623877;12678497;11121795;11768308;8621239 7821789;11919189;17314099;17353931;8392752;16862176;19022560;18535780;18496563;17964137;17532299;15952740;15489334;15249197;14976202;14499630;12486123;12486122;12477932;12200143;12009894;12007505;11960382;11872741;11082283;11042679;9925751;9480811;8858107;8747457;8645210;8529641;8406509;8381224;8270257;8245015;7768941;7685630;7658474;7488060;2509941;1988104;1851158;16169070;17163575;19381785;19619546;19638341;19852809;15146197;18029348;8889548;20864512;20877624;21085602;22251158;22421058;23383273;22939629;23068103;20309963;20830314;22192927;21628590;20881960;21504894;15703214;19805454;21139048;21890473;21906983;21963094;21987572;21988832;22053931;23000965;23368879;23438482;22505724 4831 F6XY72;J3KPD9;P22392;Q32Q12;Q6FHN3 ABBA01041259;AC005839;AMYH01008482;BC002476;BC095458;BE501156;BF034471;BF058708;BM556410;BT007045;CA307456;CB242387;CH471109;CK023920;CN267160;CR541718;D28391;DB454073;L16785;M36981;NM_001018137;NM_001018138;NM_001018139;NM_001198682;NM_002512;U29200;X58965 AAA36369;AAA60228;AAA86745;AAH02476;AAH95458;AAP35694;BAA05757;CAB37870;CAG46519;EAW94564;EAW94567;NP_001018147;NP_001018148;NP_001018149;NP_001185611;NP_002503;P22392 Hs.463456 1676111;1694622;1851978 G43341;RH70845;RH80623 MGC111212;MGC2212;NDKB;NDPK-B;NDPKB;NM23-H2;NM23B;PUF C-myc purine-binding transcription factor PUF;NDK B;NDP kinase B;OTTHUMP00000174727;OTTHUMP00000174728;OTTHUMP00000174774;OTTHUMP00000174775;OTTHUMP00000174776;c-myc transcription factor;histidine protein kinase NDKB;non-metastatic cells 2, protein (NM23) expressed in;non-metastatic cells 2, protein (NM23B) expressed in;nucleoside diphosphate kinase B;nucleotide diphosphate kinase B APPROVED protein-coding ENSG00000011052;ENSG00000243678 7850 01132 156491 VALIDATED 1604057 NME6 NME/NM23 nucleoside diphosphate kinase 6 Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010] 3 3 3 p21 48285973 48293245 - 48310580 48317852 - 48335576 48342848 - 5134680;6480464;6907045 11768308 15489334;12477932;10618642;10453732;8125298;19852809;20877624;21832049 10201 C9J1J2;C9J867;C9J9V6;C9JQB1;F2Z2J2;O75414 ABBA01024652;AC105267;AF051941;AK222555;AK294809;AK297364;AK308970;AMYH01013149;BC001808;BC012828;CH471055;NM_005793;U90449 AAC69439;AAC78463;AAH01808;AAH12828;ABM83209;ABM86409;BAD96275;BAG57928;BAG59811;EAW64861;NP_005784;O75414 Hs.465558 1669700;2163796;5015961 D15S1477;SHGC-76947;WI-14083 IPIA-ALPHA;NDK 6;NM23-H6 NDP kinase 6;OTTHUMP00000164810;OTTHUMP00000210736;OTTHUMP00000210737;OTTHUMP00000210738;OTTHUMP00000210741;OTTHUMP00000210742;OTTHUMP00000210743;OTTHUMP00000210744;OTTHUMP00000210745;inhibitor of p53-induced apoptosis-alpha;non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase);nucleoside diphosphate kinase 6 APPROVED protein-coding ENSG00000172113 20567 09219 608294 PROVISIONAL 733959 NME7 NME/NM23 family member 7 1 1 1 q24 142211825 142446965 - 167368393 167603810 - 169101769 169337186 - 1580863;6480464;6907045 19240061;19064610;17363702;16710414;16189514;15489334;14702039;12477932;11768308;21502573;19536175;19852809;20379614;15161933;21980494;21139048;21890473;22672568;21135143;22797925 29922 B4DXC8;E9PNU1;Q9Y5B8 AB209049;ABBA01027953;ABBA01027954;AF153191;AK094513;AK290701;AK301917;AL031726;AL356852;AMYH01001488;BC006983;CD107958;CH471067;NM_013330;NM_197972;Z99758 AAD34622;AAH06983;BAD92286;BAF83390;BAG52881;BAG63340;EAW90834;EAW90835;EAW90836;NP_037462;NP_932076;Q9Y5B8 Hs.706952 1703812;1771213;5015603;5017566 AL010073;ATP1B1;D11S2951;SHGC-78952 FLJ37194;MN23H7;nm23-H7 NDK 7;NDP kinase 7;OTTHUMP00000032536;OTTHUMP00000231077;OTTHUMP00000231078;non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase);nucleoside diphosphate kinase 7;nucleoside-diphosphate kinase 7 APPROVED protein-coding ENSG00000143156 20461 11394 613465 VALIDATED 1349817 NMNATP nicotinamide nucleotide adenylyltransferase pseudogene 14 14 14 q31.1 61538715 61539781 + 80568471 80569737 + 81498819 81499885 + 326607 ABBA01030613;AC007262;AMYH01005901;NG_002596;NG_009206 pseudo 20024 INFERRED 1351445 NME9 NME/NM23 family member 9 3 3 3 q22.3 136405167 136473614 - 139462969 139531418 - 137980279 138048728 - 1580863 18753468;14713334;14702039;12569107;12477932;19852809;21116278;16236267 347736 C9JPM2;C9JXP5;F8WDB2;H7C5P8;Q3KNW3;Q86XW9 ABBA01059094;AC022337;AC068777;AF196568;AK094830;AMYH01013531;AY336746;BC107054;CH471052;NM_178130 AAG28497;AAI07055;AAQ16116;BAC04430;EAW79073;EAW79074;NP_835231;Q86XW9 Hs.660992 1650421;1684840;1735324;2114535;2168847;2168849 A005Y32;D3S2952E;G20601;G31439;RH11764;STS-H73237 MGC129586;NM23-H9;TXL-2;TXL2;TXNDC6 NME family member 9;NME gene family member 9;OTTHUMP00000216650;OTTHUMP00000216651;OTTHUMP00000216652;OTTHUMP00000216653;OTTHUMP00000216913;thioredoxin domain containing 6;thioredoxin domain-containing protein 6;thioredoxin-like 2;thioredoxin-like protein 2 APPROVED protein-coding ENSG00000181322 21343 18250 PROVISIONAL 1344206 NME8 NME/NM23 family member 8 This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009] 7 7 7 p14.1 37872948 37924718 + 37854724 37906528 + 37888199 37940003 + 1580863;6480464;7240710 18471322;17360648;17304710;16642435;15489334;12477932;11768308;11737268;18029348;11574167;19852809;20237151;20379614;21832049;20301301;22504420 51314 C9JG62;C9JIT0;F8WEA2;Q8N427 AACC02000036;ABBA01056920;ABBA01056921;AC018634;AF202051;AF305596;AK313599;AMYH01017188;BC036816;CH236951;CH471073;NG_015893;NM_016616 AAF20909;AAH36816;AAN04258;ADZ15459;BAG36365;EAW94083;EAW94084;NP_057700;Q8N427 Hs.723454 1664222 D7S1542 CILD6;NM23-H8;SPTRX2;TXNDC3;sptrx-2 NM23-H8;OTTHUMP00000128304;OTTHUMP00000207133;sperm-specific thioredoxin 2;spermatid-specific thioredoxin-2;sptrx-2;thioredoxin domain containing 3 (spermatozoa);thioredoxin domain-containing protein 3 APPROVED protein-coding ENSG00000086288 16473 16243 607421;610852 REVIEWED 1316464 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q25 181484002 181654360 - 183217372 183387634 - 1580863;6480464;6907045 17402747;16710414;16118205;15489334;14516279;12477932;12359228;11318611;9455484;17207965;18029348;20962850;20857515;20388704;20943658;14704851;20379614;20457531;20954240;7829101;21832049;22027994;23251661 23057 Q9BZQ4 AB007948;ABBA01027749;ABBA01027750;ABBA01027751;ABBA01027752;AF086038;AF288395;AK291390;AK309461;AL354953;AL356981;AL449223;AMYH01001552;BC016726;BC020998;BC037251;BI493003;CH471067;CS463830;NM_015039;NM_170706 AAG60615;AAH20998;ADQ31842;BAA32324;BAF84079;CAM12698;EAW91148;EAW91149;EAW91150;EAW91151;NP_055854;NP_733820;Q9BZQ4 Hs.497123 1666380;1739339;1743831;1761683;2110599;2120396;2128129;2162789;2189489 D18S1370;D6S1383E;GDB:374339;MARC_7499-7500:992008415:1;NIB342;NMNAT2_9300;SHGC-145660;SHGC-75976;SHGC-76014 C1orf15;KIAA0479;MGC2756;PNAT2 NMN adenylyltransferase 2;NaMN adenylyltransferase 2;OTTHUMP00000033548;OTTHUMP00000033549;nicotinamide mononucleotide adenylyltransferase 2;nicotinate-nucleotide adenylyltransferase 2;pyridine nucleotide adenylyltransferase 2 APPROVED protein-coding ENSG00000157064 16789 09786 608701 REVIEWED 1604755 NMS neuromedin S 2 2 2 q11.2 95291564 95304362 + 100453376 100466174 + 101086944 101099742 + 6480464 18987052;17870195;15635449;19519756;20468064;10899166;16754659 129521 Q5H8A3 AB164464;ABBA01073932;AC068538;AMYH01010809;NM_001011717 AAI48627;AAI53191;BAD89024;NP_001011717;Q5H8A3 Hs.567676 OTTHUMP00000203207;neuromedin-S;prepro-NMS protein-coding ENSG00000204640 32203 17638 VALIDATED 1319314 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 3 3 q23 140761723 140879530 - 139279022 139396885 - 1580863;6480464;6907045 17402747;16118205;15489334;12574164;12477932;11788603;20388704;14704851;20457531;18344983;19448972;20117162;20954240 349565 D6R975;D6REC8;D6RGG8;D6RGH7;D6RHV4;Q49AL4;Q96T66 AA894638;ABBA01059063;AC046134;AC110716;AF345564;AK123208;AK127477;AMYH01013538;BC034374;BC036218;BX649063;CH471052;DB454216;NM_001200047;NM_178177 AAH34374;AAH36218;AAK52726;ABM81730;ABM84885;BAG53878;BAG54510;EAW79022;EAW79023;EAW79024;EAW79025;EAW79026;EAW79027;EAW79028;EAW79029;EAW79030;EAW79031;EAW79032;EAW79033;NP_001186976;NP_835471;Q96T66 Hs.208673;Hs.733090 1337368;1688827;1784678;1849386;2150885;5098356 AU049037;D3S2435;RH47682;RH68460;RH80318;SHGC-144684 FKSG76;PNAT-3;PNAT3 NMN adenylyltransferase 3;NaMN adenylyltransferase 3;OTTHUMP00000217131;OTTHUMP00000217133;OTTHUMP00000217134;nicotinamide mononucleotide adenylyltransferase 3;nicotinate-nucleotide adenylyltransferase 3;pyridine nucleotide adenylyltransferase 3 APPROVED protein-coding ENSG00000163864 20989 16370 608702 REVIEWED 1343469 NMRK1 nicotinamide riboside kinase 1 Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008] 9 9 9 q21.13 48253604 48280619 - 76865936 76892918 - 77676116 77703133 - 737633;6480464 12477932 17698003;15489334;15164053;15137942;14702039;16712791;21832049 54981 B3KN26;Q5W125;Q9NWW6 ABBA01033893;AK000566;AK023413;AK097144;AL133548;AMYH01021417;AY611480;BC001366;BC026243;BC036804;CB135264;CH471089;CS463838;NM_001127603;NM_017881;NR_023352 AAH01366;AAH36804;AAT11928;BAA91259;BAG51188;BAG53425;CAM12700;EAW62568;EAW62569;NP_001121075;NP_060351;Q9NWW6 Hs.494186 1690119;2136542;5022651 D11S2921;RH92813;SHGC-32283 C9orf95;FLJ20559;NRK1;RP11-235O14.2;bA235O14.2 NRK 1;OTTHUMP00000021493;OTTHUMP00000021494;OTTHUMP00000021495;RNK 1;nicotinamide riboside kinase 1;nicotinic acid riboside kinase 1;nmR-K 1;ribosylnicotinamide kinase 1;ribosylnicotinic acid kinase 1 APPROVED protein-coding ENSG00000106733 26057 09868 608704 VALIDATED 1322215 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 This gene encodes an enzyme which catalyzes a key step in the biosynthesis of the coenzyme NAD. The encoded protein is one of several nicotinamide nucleotide adenylyltransferases. Studies in Drosophila and mammalian neurons have shown the encoded protein can confer protection to damaged neurons. This protection requires enzymatic activity which increases NAD levels and activates a nuclear deacetylase which is the protective molecule. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14 and 15. [provided by RefSeq, Dec 2011] 1 1 p36.22 9926073 9968143 + 10003486 10045556 + 1580863;6480464;6907045;7240710 11027696;16118205;11248244;19403820;17402747;17360427;17081983;15489334;15342556;14702039;14516279;12574164;12477932;12359228;11959140;11891043;11788603;11752792;11751893;8125298;20388704;19913121;20457531;20628086;14704851;20379614;20926655;19458223;21071441;20954240;21832049;21517776;19478080;21988832;23351689;21139048;22334709;20301475;22842227;22842229;22842230;22842231;22174317 64802 B1AN62;K7EPD7;Q9HAN9 ABBA01035576;ABBA01035577;ABBA01035578;ABBA01035579;ABBA01035580;ABBA01035581;ABBA01035582;AF088049;AF312734;AF314163;AF459819;AF459823;AK026065;AK222920;AK315640;AL357140;AL603962;AMYH01000242;BC014943;BG751629;BP339298;CH471130;CS300603;CS463828;NG_032954;NM_022787 AAG33629;AAG33632;AAH14943;AAL76934;AAL76935;ADZ15720;BAB15345;BAD96640;BAG38007;CAK32267;CAM12697;EAW71635;EAW71636;NP_073624;Q9HAN9 Hs.633762 1336052;1341819;1663418;2122651;2153290;5014019;5016478;5016596;5020946;5022578;5037552;5094860;7185172 D1S1423;D1S1597;D1S2667;D1S3281;D5S2354;D8S2279;G34803;GDB:434012;GDB:631802;L17971;NMNAT1;SHGC-57613 LCA9;NMNAT;PNAT1 NMN adenylyltransferase 1;NaMN adenylyltransferase 1;OTTHUMP00000001731;OTTHUMP00000001732;OTTHUMP00000035892;nicotinamide mononucleotide adenylyltransferase 1;nicotinate-nucleotide adenylyltransferase 1;pyridine nucleotide adenylyltransferase 1 APPROVED protein-coding ENSG00000173614 17877 16369 608553;608700 REVIEWED 1323327 NMI N-myc (and STAT) interactor NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008] 2 2 q23 151835231 151854620 - 152126982 152146430 - 1580863;6480464 10597290;10779520;9989503;18029348;19358268;19240718;18950845;18794094;17565738;17406968;17197158;16214168;16189514;15996661;15815621;15489334;15231747;14702039;12477932;12019454;11916966;11911807;10950963;10574616;9781816;8668343;16712791;16919237;20237496;20211142;22863883;22939629;15558034;21963094;21988832;21890473;18051367;22505724;23034180 9111 C9JW17;Q13287;Q8WTW2 AB451305;AB451436;ABBA01004765;ABBA01004766;AC009311;AK124323;AK291548;AK298754;AMYH01011168;BC001268;BC021987;CB151555;CH471058;EF036506;NM_004688;U32849 AAC12949;AAH01268;AAH21987;AAY15066;ABO65092;BAF84237;BAG60896;BAG70119;BAG70250;EAX11513;NP_004679;Q13287 Hs.54483 1777070 RH70601 N-myc interactor;N-myc-interactor;OTTHUMP00000162693 APPROVED protein-coding ENSG00000123609 7854 04632 603525 REVIEWED 1603207 NMRAL1 NmrA-like family domain containing 1 16 16 16 p13.3 4720601 4733802 - 4451696 4464893 - 4511695 4524896 - 6480464 19254724;19027726;18263583;17496144;17100653;15616553;15489334;12477932;19843583;17207965;19433587;18029348;21139048;21890473;21906983;22348310 57407 I3L0Y6;I3L1Q7;I3L1Y8;I3L2U0;I3L3I6;I3L3Z0;I3L543;Q9HBL8 ABBA01026776;AC007606;AC012676;AF225419;AK098784;AMYH01007104;BC002927;BC007364;CH471112;NM_020677 AAG09721;AAH02927;AAH07364;ADQ31843;EAW85301;EAW85302;NP_065728;Q9HBL8 Hs.288969 1680809 RH91162 FLJ25918;HSCARG;SDR48A1 OTTHUMP00000159842;nmrA-like family domain-containing protein 1;short chain dehydrogenase/reductase family 48A, member 1 protein-coding ENSG00000153406 24987 13678 PROVISIONAL 1344874 NMRK2 nicotinamide riboside kinase 2 19 19 19 p13.3 3870565 3879557 + 3884101 3893414 + 3933101 3942414 + 1580863;6480464 12809483;15489334;15137942;14702039;12941630;12477932;10613898;8889548;16169070;21832049;21900206 27231 B7ZKR3;M0QX67;M0R0T8;Q9NPI5 ABBA01002858;ABBA01002859;AC011488;AF190819;AK001663;AK022514;AL365377;AMYH01009319;AY611481;BC093637;BC101575;BC143329;BM669267;CH471139;CS463840;NM_170678 AAF26711;AAH93637;AAI01576;AAI43330;AAT11929;BAA91820;BAB14071;CAB96949;CAM12701;EAW69277;EAW69278;EAW69279;NP_733778;Q9NPI5 Hs.135458 2144879;2180694 Bda65a12;RH41947 ITGB1BP3;MGC126624;MIBP;NRK2 NRK 2;RNK 2;integrin beta 1 binding protein 3;integrin beta-1-binding protein 3;muscle integrin-binding protein;muscle-specific beta 1 integrin binding protein;nicotinamide riboside kinase 2;nicotinic acid riboside kinase 2;nmR-K 2;ribosylnicotinamide kinase 2;ribosylnicotinic acid kinase 2 APPROVED protein-coding ENSG00000077009 17871 16371 608705 VALIDATED 1348049 NMUR1 neuromedin U receptor 1 2 2 2 q37.1 226164278 226171589 - 232096116 232103452 - 232387871 232395182 - 6480464 10899166;9782091;15815621;15635449;15489334;15342556;12477932;10811630;10783389;10894543;18577758;23400010 10316 Q9HB89 ABBA01002056;AC017104;AF044600;AF044601;AF272362;AK300222;AMYH01011558;BC036543;BC051914;BP198644;CH471063;NM_006056 AAC02680;AAG24793;AAH36543;AAH51914;AAY24249;BAG61990;EAW70966;NP_006047;Q9HB89 Hs.471619 2107441;5015619;5022578 D11S3114;D1S1423;NMUR1_7281 (FM-3);FM-3;FM3;GPC-R;GPR66;NMU1R G protein-coupled receptor 66;G-protein coupled receptor 66;G-protein coupled receptor FM-3;NMU-R1;OTTHUMP00000164297;neuromedin-U receptor 1 protein-coding ENSG00000171596 4518 16039 604153 VALIDATED 1345000 NNO1 nanophthalmos 1 7240710 9792868 23691 1298330;1334892;1336452;1340959;7187871 D11S1313;D11S903;D11S905;D11S987 7862 68564 NMU neuromedin U 4 4 q12 56156155 56197222 - 56461398 56502465 - 1580863;1642093;1642094;632965;1642095;6480464 17706946;16984985;10894543;15448684 10811630;7619205;19118941;17018595;16878152;15489334;15331768;15187020;14623274;12477932;12023529;10999960;10899166;10887190;10783389;15635449;19519756;20379614;21791076;22479202 10874 D6RBC9;E9PDJ7;P48645 ABBA01003414;AC024243;AJ510133;AJ510134;AJ510135;AM279463;AMYH01014191;AMYH01014192;AMYH01014193;BC012908;BI603117;CH471057;FB660528;NM_006681;X76029 AAH12908;ABM82221;ABM85405;CAA53619;CAD52852;CAD52853;CAD52854;CAK50583;CAS01829;EAX05470;EAX05471;NP_006672;P48645 Hs.418367 1658973;1852971 D4S3177;STS-X76029 OTTHUMP00000128356;OTTHUMP00000218696;OTTHUMP00000218697;OTTHUMP00000218881;neuromedin;neuromedin-U;prepro-NMU protein-coding ENSG00000109255 7859 05485 605103 VALIDATED 1343070 NMUR2 neuromedin U receptor 2 This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008] 5 5 5 q33.1 147846463 147860200 - 151751302 151765017 - 151771102 151784840 - 632965;6480464 10894543 10899166;10887190;16781063;15525579;15489334;12477932;11010960;8940772;15635449;20395239;18577758;22688191 56923 Q9GZQ4 AB041228;ABBA01026249;AC008571;AF242874;AF272363;AF292402;AI023570;AMYH01015719;BC016938;BC067776;CH471062;NM_020167 AAF82755;AAG03064;AAG24794;AAH16938;AAH67776;ABM82703;ABM85887;BAB13721;EAW61653;NP_064552;Q9GZQ4 Hs.731911 1785388;1850457;1854300;1854302 A005Z09;D5S1834;G20615;SHGC-141940 FM-4;FM4;NMU-R2;NMU2R;TGR-1;TGR1 G-protein coupled receptor FM-4;G-protein coupled receptor TGR-1;OTTHUMP00000160626;growth hormone secretagogue receptor family, member 4;neuromedin-U receptor 2 APPROVED protein-coding ENSG00000132911 16454 12003 605108 REVIEWED 1352076 NMT1 N-myristoyltransferase 1 Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008] 17 17 q21.31 40494206 40541910 + 43138680 43186384 + 1580863;6480464 9506952;11099414;18248763;18089753;18021392;17549352;17081983;16964243;16123142;15489334;15302935;15156568;12767222;12477932;12414990;12244217;12220649;11594778;11423543;11302743;10734119;10718634;10625670;10196310;10074105;9971769;9677304;9353336;9299393;9261380;9110174;8970978;8619474;8576268;8360179;8139035;7527558;7521919;7512951;3917576;16216583;16183191;15280532;14707265;14699046;15613341;16475823;11463741;10339411;2788277;2737204;2692561;2405382;2194551;2153964;1570339;1530946;16306631;16530191;20379614;18029348;16501079;21449607;22863883;21139048;21890473;21906983;17188710;17261081;17411366;18187620;19403686;21653836;22190034 4836 B7Z8J4;K7EN42;K7EN82;P30419 ABBA01028328;ABBA01028329;ABBA01028330;ABBA01028331;AC002117;AC116493;AF020500;AF043324;AK291936;AK303517;AMYH01008437;AMYH01008438;BC006538;BC006569;BC007258;BC008312;BC008579;BC109226;CH471178;M86707;NM_021079;U79285;Y17208;Y17209 AAB95316;AAC09294;AAH06538;AAH06569;AAH07258;AAH08312;AAH08579;AAI09227;BAF84625;BAH13980;CAA76684;CAA76685;CAA76686;EAW51553;EAW51554;EAW51555;EAW51556;EAW51557;NP_066565;P30419 Hs.532790 1648955;1661466;1736662;2108311;2118745;2119816;2149045;5491521 D17S1494E;MARC_16857-16858:1015861084:3;NMT1_8508;RH66609;RH70326;SHGC-34291;STS-M86707;WI-13574 NMT NMT 1;alternative, short form NMT-S;glycylpeptide N-tetradecanoyltransferase 1;long form, NMT-L;myristoyl-CoA:protein N-myristoyltransferase 1;peptide N-myristoyltransferase 1;type I N-myristoyltransferase APPROVED protein-coding ENSG00000136448 7857 01187 160993 PROVISIONAL 7248461 NNT-AS1 NNT antisense RNA 1 14702039;16344560 100652772 ABBA01024259;ABBA01024260;AC010435;AC114956;AK055769;AL691886;AMYH01015059;BC012288;DA630653;DB499358;HY014991;NR_073113 Hs.482043;Hs.613883 miscrna 49005 VALIDATED 1604996 NOBOX NOBOX oogenesis homeobox This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011] 7 7 q35 143726972 143738253 - 144094333 144107320 - 7240710;6480464 18675947;18689850;19610175;20593028;18930203;17701902;16597639;15950662;15326356;12853948;11804785;11181995;8855241;21837770 135935 H9KV25;O60393 AACC02000041;ABBA01033541;ABBA01033542;AC004534;AMYH01018088;CH471146;NG_028979;NM_001080413 AAC12957;AAI52835;EAL24414;EAW80093;EAW80094;NP_001073882;O60393 Hs.558628 OG-2;OG2;Og2x;POF5;TCAG_12042 OTTHUMP00000212588;OTTHUMP00000212589;homeobox protein NOBOX;newborn ovary homeobox-encoding APPROVED protein-coding ENSG00000106410 22448 610934;611548 VALIDATED 1349505 NMT2 N-myristoyltransferase 2 N-myristoyltransferase (NMT) catalyzes the reaction of N-terminal myristoylation of many signaling proteins. It transfers myristic acid from myristoyl coenzyme A to the amino group of a protein's N-terminal glycine residue. Biochemical evidence indicates the presence of several distinct NMTs, varying in apparent molecular weight and /or subcellular distribution. The predicted 498-amino acid of human NMT2 protein shares 77% and 96% sequence identity with human NMT1 and mouse Nmt2 comprise two distinct families of N-myristoyltransferases. [provided by RefSeq, Jul 2008] 10 10 p13 15187777 15250701 - 15147771 15210695 - 1580863;6480464 12477932;12244217;11731439;11302743;10196310;10074105;9971769;9299393;9261380;8970978;8576268;12767222;8139035;7521919;2788277;2737204;2692561;2405382;2194551;16306631;16216583;16183191;15280532;14707265;14699046;9506952;18029348;18089753;17568424;16530191;16364039;16123142;15489334;15164054;14702039;19913121;20628086;20379614;16501079;21832049;21900206;10339411;11463741;16475823;17261081;19403686 9397 B4DXS1;F5H594;O60551;Q5VUC6;Q5VUC7 ABBA01034594;ABBA01034595;ABBA01034596;ABBA01034597;ABBA01034598;AF043325;AF086423;AK094904;AK123732;AK295277;AK302101;AK315085;AL590365;AMYH01002055;AMYH01002056;BC005232;BC006376;BT007024;CH471072;EF445001;NM_004808 AAC09295;AAH05232;AAH06376;AAP35670;ABM81593;ABM84774;ACA06028;ACA06029;BAG37550;BAG52951;BAG58261;BAG63483;EAW86238;EAW86239;NP_004799;O60551 Hs.60339 1339650;1690003;1701496;1782004;1854437;1854685;2114526;5015404;5016478;5020946;5022463;5024413;5037552;5112017 D10S1168;D10S2335;D3S1673;D8S2279;G44365;GDB:434012;L17705;L17877;L17971;RH104381;RH80462;SHGC-147001;SHGC-57935;STS-AA036785 NMT 2;OTTHUMP00000019188;OTTHUMP00000019189;OTTHUMP00000019190;glycylpeptide N-tetradecanoyltransferase 2;myristoyl-CoA:protein N-myristoyltransferase 2;peptide N-myristoyltransferase 2;type II N-myristoyltransferase APPROVED protein-coding 7858 11948 603801 REVIEWED 730841 NNAT neuronatin The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of the BLCAP gene, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 20 20 q11.2-q12 35583021 35585506 + 36149607 36152092 + 1580863;6480464 8813377;19218280;18701710;17805055;15489334;12477932;11960906;22624064;11780052;11543638;11476579;9356927;8660979;12775420;19851307;21832049;21742036;22022350;23408434 4826 Q16517 AB002392;ABBA01006621;AI879211;AK312069;AL109614;AMYH01011897;AMYH01011898;BC001768;BE255132;BG472075;BT019426;CH471077;NG_009263;NM_005386;NM_181689;U25033;U25034;U31767 AAA93224;AAA93225;AAC50626;AAC50627;AAH01768;AAV38233;BAA25016;BAG35005;EAW76057;EAW76058;EAW76059;EAW76060;EAW76061;NP_005377;NP_859017;Q16517 Hs.504703 1685327;2108313;2133420;2137808;2185942;7186170 D20S125E;NNAT_8167;RH27937;RH79915;WI-21755 MGC1439;Peg5 OTTHUMP00000030933;OTTHUMP00000030934;neuronatin APPROVED protein-coding ENSG00000053438 7860 04377 603106 REVIEWED 1354431 NOA1 nitric oxide associated 1 4 4 4 q12 55335470 55349777 - 57524273 57538583 - 57829516 57843826 - 737633;6480464 12477932 22447445;18456285;16380119;15489334;14702039;16169070;20877624;21106707;2118999;21771794;21118999;20186120;19103604;21900206;21909106;21139048;21890473 84273 Q8NC60 ABBA01003448;AC069307;AK074953;AK098215;AK128696;AMYH01014198;BC004894;CH471057;NM_032313 AAH04894;ABM82785;ABM85974;BAC05262;BAC11311;BAG54713;EAX05518;NP_115689;Q8NC60 Hs.8715 1960852;2143851;5015619;5015879;5015961;5016478;5020946;5022463;5022578;5022651;5024272;5037552 D11S2921;D11S3114;D15S1477;D1S1423;D2S1254;D3S1673;D4S3270;D8S2279;GDB:314949;GDB:434012;L17971;REN51297 C4orf14;MGC3232;MTG3;hAtNOS1;hNOA1;mAtNOS1 OTTHUMP00000158975;hypothetical protein LOC84273;mitochondrial GTPase 3 homolog;mitochondrial nitric oxide synthase;nitric oxide associated-1;nitric oxide synthase, mitochondrial (putative);nitric oxide-associated protein 1;putative ortholog of Arabidopsis mitochondrial nitric oxide synthase;uncharacterized protein C4orf14 APPROVED protein-coding 28473 12823 614919 PROVISIONAL 1316739 NOC3L nucleolar complex associated 3 homolog (S. cerevisiae) 10 10 10 q23.33 89833093 89862784 - 96082979 96112673 - 96092989 96122683 - 737633;6480464 12477932 15489334;16565220;15564382;15164054;14702039;12429849;21628590;20729852;16385451;19615732;22796266;22360420;21139048;21890473;21903422;22586326 64318 A6NJZ9;F5H677;Q8WTT2 AB077992;ABBA01021856;ABBA01021857;AK022882;AK026953;AK091246;AK292520;AK302028;AL355341;AMYH01002965;BC030999;BC049850;CH471066;NM_022451 AAH49850;BAB14291;BAB15599;BAB84194;BAF85209;BAG63426;EAW50041;NP_071896;Q8WTT2 Hs.74899 2149663;2181587 RH48066;SHGC-57905 AD24;C10orf117;FAD24;FLJ12820 NOC3 protein homolog;NOC3-like protein;OTTHUMP00000020124;chromosome 10 open reading frame 117;factor for adipocyte differentiation 24;nucleolar complex protein 3 homolog;nucleolar complex-associated protein 3-like protein protein-coding ENSG00000173145 24034 12562 610769 PROVISIONAL 1320034 NNMT nicotinamide N-methyltransferase N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008] 11 11 q23.1 113671745 113688448 + 114166535 114183238 + 1359084;1580863;2299120;6480464;6907045 15922112;17070307 8182091;19343046;19336370;19242722;19216803;19161160;19020309;18996527;18724390;18635682;18553462;18441319;18427977;17922140;17903297;17434578;17412799;16676400;16166432;15849667;15728403;15489334;15486044;12477932;12216074;11853016;11271497;10471062;9804963;8845860;8575745;1533573;22628313;21791160;20634891;19619240;19812220;19924637;20104648;20458436;21045016;21823666;21832049;22318606;21139048;21988832;23000965;23455543 4837 F5H0R4;P40261;Q6FH49 AA402535;ABBA01039771;AK026845;AMYH01004043;AP002518;BC000234;BI255889;CH471065;CR541907;CS463820;EF445002;NM_006169;U08021;U20970;U20971 AAA19904;AAA93158;AAH00234;ABM83767;ABM87087;ACA06031;CAG46705;CAM12693;EAW67243;EAW67244;NP_006160;P40261 Hs.503911 1649639;1656741;1778987;1854960;2140137;2161769;2162402;2176326;2219190 C95593;D11S2386;D11S4067;D11S4349;NNMT;NNMT__6063;RH11572;RH11609;RH48226 OTTHUMP00000238385;nicotinamide N-methyltransferase APPROVED protein-coding ENSG00000166741 7861 02478 600008 REVIEWED 1351355 NNT nicotinamide nucleotide transhydrogenase This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 p12 43638548 43741425 + 43602791 43705668 + 1580863;6480464;6907045 10673423;9524818;16381901;16344560;15489336;15489334;12788487;12592411;12477932;12223207;11230166;11181995;11076863;10739929;9271681;8951041;8616157;11256614;17643375;20388492;20877624;22939629;17342744;21139048;21890473;22586326;22634753 23530 D6RAI5;D6RCR6;D6RHU2;E9PCX7;H0Y8P5;H0Y9R2;Q13423 ABBA01024260;AC010435;AK297558;AK299622;AL831822;AMYH01015059;AMYH01015060;AW771969;BC032370;BC064402;BC110543;BC110544;BU429380;CH471119;DA521839;NG_032869;NM_012343;NM_182977;U40490;Z50101 AAC51914;AAH32370;AAI10544;AAI10545;BAG59951;BAG61550;CAA90428;CAD38536;CAL37542;CAL38491;EAW56073;EAW56074;NP_036475;NP_892022;Q13423 Hs.482043 1676390;1677704;1679437;1679808;1681074;1682674;1684710;1740395;1750021;1751179;1754851;1785210;1785264;2110943;2133652;2140101;2140103 Bda11g05;D5S2216E;D5S523E;RH12654;RH18322;RH25731;RH41165;RH66587;RH68867;RH75784;RH98326;SHGC-100695;SHGC-105067;SHGC-106285;SHGC-111715;SHGC-141773;WI-10159 GCCD4;MGC126502;MGC126503 NAD(P) transhydrogenase, mitochondrial;OTTHUMP00000122432;OTTHUMP00000122433;OTTHUMP00000221608;pyridine nucleotide transhydrogenase APPROVED protein-coding ENSG00000112992 7863 09715 607878;614736 REVIEWED 1314945 NOD2 nucleotide-binding oligomerization domain containing 2 This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. [provided by RefSeq, Jul 2008] 16 16 q21 49288551 49324488 + 50731050 50766987 + 1580863;1600778;1600781;1643119;5131444;5131477;5131510;4892066;5131450;5131515;5131443;5131484;5131440;5131449;5131480;5131438;5131514;5508761;5508720;5508725;5508733;5508736;5508739;5508743;5508757;5508719;5508730;5508748;5508752;5508755;5508727;5508729;5508728;5508746;5508754;5508759;6480464;6484113;6907045;7240710 11385576;16891783;16973131;20493961;16008671;18419343;19679608;18158963;20223031;20685341;12704363;20107953;19360122;15215247;20442679;16267612;21976236;21943069;21565239;20863826;20679225;20646002;20350193;21051079;21983784;21155887;21669398;21460759;20921147;21471573;21296813;21424514;21886831;21387014;20230816 11834373;11752413;11528384;11472070;11425413;11318544;10439963;10053016;9924607;9797359;9541106;8894707;8587604;7809109;17351900;17337463;17333217;17319929;17303577;17301648;17285593;17278126;17269998;17258734;17206688;17206636;17206080;17200669;17174426;17171451;17160430;17157607;17156193;17156146;17142621;17131470;17119385;17113749;17101573;17100976;17100974;17096091;17068223;17057186;17030188;17020469;17018387;17012967;17009307;17006998;17005562;16977346;16965521;16952484;16949315;16933467;16920047;16907704;16897777;16840031;16825909;16819374;16804670;16804398;16773683;16771961;16741608;16716969;16670524;16670523;16669960;16642031;16641610;16614992;16611251;16534418;17690884;17684544;17666747;17661913;17660460;17652449;17620097;17613538;17600378;17595233;17570063;17565648;17563761;17558906;17558494;17554300;17548659;17538984;17509030;17498224;17489054;17486745;17484864;17484863;17476680;17460484;17452051;17451203;17447842;17435756;17417801;17404888;17403538;17393391;17389035;17389014;17379562;17356065;17355968;11087742;15753091;15998797;15075345;16260731;15653568;17187069;11385577;15107016;17919942;15967716;16714539;17337451;19638967;19590455;19527514;19482182;19479837;19479836;19434699;19426395;19422935;19349988;19337309;19319132;19305026;19299732;19275920;19273470;19262523;16522788;16519819;16510569;16494592;16494109;16493449;16493424;16492792;16489646;16485124;16461743;16454837;16446977;16441470;16437728;16437636;16436969;16424393;16416181;16402184;16397396;16393227;16389181;16385250;16344054;16344053;16319062;16315780;16306764;16279904;16278823;16266221;16257953;16255050;16244543;16239841;16239840;16230083;16203728;16198136;16179784;16174099;16167972;16161956;16148063;16134731;16134725;16133971;16126943;16115863;16080653;16010583;16009674;16002353;16000642;15990626;15984988;15973118;15973116;15967635;15930978;15927452;15843082;15842589;15840263;15812565;15807862;15803022;15800781;15795594;15785318;15778542;15770725;15712650;15685536;15667501;15666202;15655821;15654786;15643611;15638227;15637755;15626888;15626887;15578724;15571588;15571586;15551253;15539413;15539411;15527324;15520108;15516360;15515785;15492242;15489579;15479689;15472511;15468360;15459013;15377357;15367194;15320482;15308523;15289769;19258923;19253375;19247692;19244164;19240061;19235913;19219079;19200604;19189651;19184350;19184348;19183163;19174806;19169908;19139201;19120480;19116920;19112191;19103559;19103524;19098858;19079230;19074885;19058231;19050632;19019335;18985712;18976442;18972554;18942754;18942751;18938111;18855982;18824555;18819462;18818748;18804983;18787464;18758464;18758419;18756601;18715515;18698678;18680223;18676680;18670786;18647548;18640012;18633131;18619921;18617779;18594982;18587394;18576390;18574154;18573991;18563169;18541930;18521924;18521914;18507017;18489434;18466472;18438406;18433468;18413660;18384487;18383179;18382655;18371140;18371139;18367950;18341489;18340358;18317454;18305068;18271063;18256385;18253730;18248772;18243161;18240302;18227809;18219096;18213697;18200510;18200509;18184136;18182678;18166373;18162085;18157816;18096043;18092345;18092344;18090989;18088053;18069758;18052659;18047543;18028374;18022871;18022867;17980027;17978873;17976376;17968944;17964870;17964196;17941079;17911997;17907287;17894849;17892524;17877509;17876878;17852840;17804789;17786191;17763471;17725592;17724347;17719742;17705850;17703412;15279649;15214053;15202784;15194649;15190267;15180737;15168811;15145460;15142196;15140210;15107849;15095853;15090455;15056084;15052696;15046222;15046221;15044951;15024686;15016407;15008984;15002819;14996717;14971813;14750643;14747834;14743885;14690304;14644139;14638352;14627676;14597055;14555911;14522785;14516815;14508222;13680285;12940436;12930309;12923865;12879366;12876263;12871942;12851870;12823148;12810925;12673278;12671897;12671896;12650796;12649405;12631669;12631668;12631666;12626759;12618963;12617879;12595906;12595627;12577202;12563685;12556233;12532667;12529700;12527755;12514169;12512064;12512038;12508397;12492195;12474146;12459523;12454871;12415614;12397216;12360101;12210321;12202985;12198692;12115249;12115195;12105838;12105836;12020527;12019468;12019209;11976792;11938034;11910337;11910336;11890351;11875755;11837220;21310790;21739538;22218461;22266421;22397822;22412388;21209938;22665475;21887730;22286692;22319155;22563200;20298285;19913121;20524760;20549515;20595247;20601676;20622911;20628086;20632099;20646321;20673868;20676658;20713205;21596301;20565245;19170196;19266573;19397946;19406482;19423540;19535145;19570052;19570976;19572373;19579027;19579029;19625176;19641059;19659808;19664207;19667203;19679065;19692168;19701189;19701969;19713276;19721713;19748964;19759286;19787357;19809335;19822951;19826411;19830732;19843337;19853919;19888426;19896081;19898471;19907652;19912254;19948723;19966812;20002790;20018961;20024904;20027650;20032092;20047977;20066736;20079790;20082483;20087966;20110711;20124104;20155851;20177049;20182871;20232407;20332463;20346235;20362271;20371648;20373538;20379614;20380008;20387682;20403997;20406964;20412372;20428899;20438785;20441518;20452482;20453000;20483763;20485703;20503287;20537165;20541026;19693669;20854823;20385562;21123652;20525885;19760754;20140262;20637199;20800603;20839241;20850627;20865702;20875485;20886065;20959815;20962850;21039068;21040192;15276183;21102463;20570966;20940596;20436512;20698950;19728064;20583427;16414084;19337385;20384614;21097508;22275320;22815893;21042538;21206965;22464675;22509093;22607974;21263023;21342182;20844241;21218092;21335489;21343918;19880660;23085276;22571967;17965022;22730064;23121969;21914217;22719818;22807259;23322906;23100559;21388357;21241317;21040358;21573891;21625457;21665963;21734346;22739221;23818254;21385537;21768114;21799103;21274544;21410503;21659536;21730793;21734790;21699783;19592251;21745515;21744420;21978001;15620648;21215810;21337670;22139875;22346247;17420470;22998942;23102769;23287275;23300079;18329614;22212192;22502597;22549783;22829933;22504414;21906983;21391291;21690088;21716313;21745302;22147245;22416979;17348859;23109427;23437331;23409731;22684479;22936669;23128233;22997500;21448648;22700971;22244368;23019338;23173613;22426692;22289211 64127 E9PK30;E9PLF7;H0YF53;J3QL80;Q9HC29 ABBA01000867;AC007608;AC007728;AF178930;AF385085;AF385087;AF385088;AF385089;AF385090;AJ303140;AK298099;AMYH01007663;AX259774;AX259776;AY187233;AY187234;AY187235;AY187236;AY187237;AY187238;AY187239;AY187240;AY187241;AY187242;AY187243;AY187244;AY187245;AY187246;AY423901;CH471092;DQ868973;HQ204571;NG_007508;NM_022162 AAG33677;AAI52738;AAI56572;AAK70863;AAK70865;AAK70866;AAK70867;AAK70868;AAQ93806;ABJ16061;ADN95581;BAG60384;CAC42117;CAD10212;CAD10248;EAW82767;NP_071445;Q9HC29 Hs.592072 1336553;1337308;1337425;1338250;1338621;1338725;1339194;1341160;1341768;1341812;1653880;1738561;1738807;1738829;1777571;1789418;1789420;1789422;1789424;1789426;1789428;1789430;1789434;1794738;2217108;7186520;7186523 CARD15_3616;D16S267;D16S2730;D16S2874;D16S2885;D16S3089;D16S3393;D16S408;D16S409;D16S411;D16S415;D16S419;D16S503;D16S514;D16S753;G09530;G67946;G67947;G67948;G67949;G67950;G67951;G67952;G67955;PMC356064P1 ACUG;BLAU;CARD15;CD;CLR16.3;IBD1;NLRC2;NOD2B;PSORAS1 NLR family, CARD domain containing 2;NOD-like receptor C2;OTTHUMP00000164224;OTTHUMP00000236088;caspase recruitment domain family, member 15;caspase recruitment domain protein 15;caspase recruitment domain-containing protein 15;inflammatory bowel disease protein 1;nucleotide-binding oligomerization domain 2;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2;nucleotide-binding oligomerization domain-containing protein 2 APPROVED protein-coding ENSG00000167207 5331 05810 186580;266600;605956;607507;609464 REVIEWED 1604300 NOC4L nucleolar complex associated 4 homolog (S. cerevisiae) 12 12 12 q24.33 132247260 132255092 + 131194946 131202939 + 132628993 132636986 + 6480464 15590835;16189514;15489334;14702039;12477932;12446671;12429849;16169070;22939629;22586326;21890473;21906983;22505724 79050 F5H303;F5H5K6;Q9BVI4 ABBA01032793;ABBA01032794;AC138466;AMYH01004902;AMYH01004903;AMYH01004904;BC001191;BC007893;BC071958;CH471054;NM_024078 AAH01191;AAH07893;AAH71958;ABM83444;ABM86656;EAW98544;EAW98545;NP_076983;Q9BVI4 Hs.558536 5112285 RH103011 MGC3162;NET49;NOC4;UTP19 NOC4 protein homolog;NOC4-like protein;OTTHUMP00000238416;nucleolar complex protein 4 homolog;nucleolar complex-associated protein 4-like protein protein-coding ENSG00000184967 28461 14543 612819 PROVISIONAL 1603053 NOB1 NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010] 16 16 16 q22.3 54290520 54303578 - 68333275 68346330 - 69775774 69788829 - 6480464;6907045 15231747;17081983;16172919;15489334;14702039;12588997;12477932;1791827;21287298;18482256;19706509;21139048;21573803;21890473;21906983;16341674;16344560;21832049;21048991;22505724 28987 H3BUR4;Q9ULX3 AB026125;ABBA01025539;ABBA01025540;AC092115;AF190161;AK001028;AK314307;AMYH01007770;AY487344;BC000050;BC064630;BG386829;BM793847;BM827373;CH471092;DA004856;DB048531;DB344693;NM_014062;NR_074074 AAH00050;AAH64630;AAQ13705;AAR85357;BAA86961;BAA91473;BAG36959;EAW83285;EAW83286;NP_054781;Q9ULX3 Hs.271695;Hs.645714 1646919;1653068;1737307;1769381;1788636;2119092;2129094;2137887;2170948 A005R12;D16S2647;DXS7556;DXS9791;RH18146;RH45900;RH65148;RH66628;SHGC-60732 ART-4;MST158;MSTP158;NOB1P;PSMD8BP1 OTTHUMP00000174899;PSMD8 binding protein 1;RNA-binding protein NOB1;adenocarcinoma antigen recognized by T lymphocytes 4;nin one binding protein;phosphorylation regulatory protein HP-10;protein ART-4 APPROVED protein-coding ENSG00000141101 29540 11395 613586 VALIDATED 1344653 NOD1 nucleotide-binding oligomerization domain containing 1 This gene encodes a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009] 7 7 p15-p14 30430675 30484790 - 30464143 30518393 - 1580863;5131480;5131449;5131519;5131518;5131446;5131443;5508755;6480464;6907045 15215247;19360122;16918516;15718249;20384614;20685341;20921147 19327158;19273470;19264973;19247692;19122645;19074885;19050632;19043560;18574154;18573991;18536738;18521924;18426885;18397186;18186648;17970764;17964870;17907287;17620097;17613538;17595233;17521327;17452051;17403538;17322292;17309748;17285593;17156193;17100974;17054981;17030188;17012967;17005562;16935475;16893397;16741608;10329646;15967716;15657077;15653568;12761501;19401779;16493424;16464805;16446438;16260731;16172124;16115863;16083881;15990792;15790594;15489334;14977954;14702039;12871942;12853948;12813035;12791997;12775719;12690205;12477932;12459189;11113115;11058605;22062585;22143988;10880512;10224040;15107016;22563200;17337451;19913121;20485444;20519512;20595247;20628086;20646321;20818820;20470879;19120480;19167431;19260860;19406482;19423540;19538217;19570976;19587002;19660916;19667203;19723304;19818630;19843337;19882212;19898471;20002790;20007577;20124104;20389019;20395963;20403997;20406964;20438785;20453000;20039881;21048031;20713621;15276183;20300534;19337385;21042538;21330608;21263023;21342182;20846183;20844241;21241317;21722177;23382681;21677137;21757725;21864388;21768114;21745515;21978001;21924184;23460743;17435760;21310790;22218461;21739538;21988832;23275338;23300079;16517750;23353647;17420470;22902391;23182460;22763410;22507623;22848741;21097508;23062636;22870324 10392 B4DTU3;C9J8X8;G3XAL1;Q7Z2K1;Q9Y239 AA845215;AACC02000087;ABBA01056813;AC005154;AC006027;AF113925;AF126484;AF149774;AK023969;AK300367;AMYH01017149;AMYH01017150;AMYH01017151;AY128682;AY128683;AY128684;AY128685;AY128686;AY187249;BC020114;BC040339;CH471073;CV569884;NG_013025;NM_006092 AAD28350;AAD29125;AAD43922;AAH40339;AAM98064;AAM98065;AAM98066;AAM98067;AAM98068;AAS46897;BAG51242;BAG62105;EAL24453;EAW93944;EAW93945;EAW93946;EAW93947;EAW93948;EAW93949;NP_006083;Q9Y239 Hs.405153 1649724;1652250;1654956;1664363;1770538;2217110;5094877 CARD4_3524;GDB:1317654;GDB:4585415;GDB:4585724;NOD1;SHGC-56016;STS-R02588 CARD4;CLR7.1;NLRC1 NLR family, CARD domain containing 1;OTTHUMP00000158742;caspase recruitment domain family, member 4;caspase recruitment domain-containing protein 4;nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1;nucleotide-binding oligomerization domain-containing protein 1 APPROVED protein-coding ENSG00000106100 16390 05815 605980 REVIEWED 1343906 NOL2 nucleolar protein 2, 145kDa 4840 7868 1606804 NOC2L nucleolar complex associated 2 homolog (S. cerevisiae) Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008] 1 1 1 p36.33 1697120 1712216 + 869446 884542 - 879583 894679 - 6480464 11230166;17353931;17081983;16713569;16710414;16565220;16381901;16344560;16322561;16189514;16083285;15489336;15489334;14702039;12477932;12429849;11790298;11256614;11076863;10737800;8125298;10637318;21832049;20959462;18029348;21078624;19471022;21139048;21693764;21890473;21906983;22178446;22363708;22586326;21252943 26155 Q9H9J5;Q9Y3T9 ABBA01016004;AK022756;AK024284;AK092491;AK225239;AK315080;AL050019;AL645608;AMYH01000104;AW749585;BC003555;BC009786;BX645732;CH471183;DA002961;NM_015658 AAH03555;BAB14230;BAC03905;BAG51285;CAB43240;CAL38718;EAW56304;EAW56305;EAW56306;NP_056473;Q9Y3T9 Hs.405987 2176080;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;SHGC-74122 DKFZp564C186;FLJ35172;NET15;NET7;NIR NOC2-like protein;OTTHUMP00000038432;novel INHAT (inhibitor of histone acetyltransferase) repressor;novel INHAT repressor;nucleolar complex protein 2 homolog;protein NOC2 homolog APPROVED protein-coding ENSG00000188976 24517 13166 610770 VALIDATED 735776 NOG noggin The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008] 17 17 q22 52026274 52027546 + 54671060 54672951 + 729002;1600234;1580863;6480464;6484113;6907045;7240710 7666191;10080184 8752214;11562478;16151340;17889703;17029022;19453261;19167531;19058174;19023570;18931653;18560367;18537141;18391951;18204269;18019378;17696196;17668388;17218603;17200191;17138967;16532400;16126463;15756420;15621726;15489334;15264296;14999064;12621334;12478285;12477932;12404109;12115893;12089654;11857750;11846737;11706034;11580864;11545688;10780858;10657699;10087923;9634519;9603738;9585504;7557985;22503063;22621191;15064755;19400542;19597895;19692649;19700758;20023658;20048150;8582276;20546612;20645637;20503332;20734064;21111488;21249149;22628200;15539560;22083168;22364398;22547073;20881960;22288654;22529972;22740073 9241 Q13253 ABBA01041303;AC015724;AK314080;AMYH01008493;BC034027;CH471109;NG_011958;NM_005450;U31202 AAA83259;AAH34027;BAG36778;EAW94528;NP_005441;Q13253 Hs.248201 1788184;1794532;1797902;2151221;5017941;5493815 MARC_53900-53901:1151606073:5;NOG_2549;Nog;PMC316831P1;RH66786;UniSTS:495034 SYM1;SYNS1 OTTHUMP00000200510;noggin;symphalangism 1 (proximal) APPROVED protein-coding ENSG00000183691 7866 04291 184460;185800;186500;186570;602991;611377 REVIEWED 1314354 NODAL nodal growth differentiation factor The protein encoded by this gene is a member of the TGF-beta superfamily. Studies of the mouse counterpart suggested that this gene may be essential for mesoderm formation and subsequent organization of axial structures in early embryonic development. [provided by RefSeq, Jul 2008] 10 10 q22.1 71862077 71871429 - 72191692 72201465 - 1580863;6480464;6907045;7240710 12052855;19553149;19279133;19064609;18596037;18538293;18234825;18089557;18022151;17925387;17373879;16179608;15982639;15501227;15489334;15475956;15308665;15257293;15150278;12606401;12477932;9354794;8429908;22855743;20482672;21356369;16385451;19386982;19874624;20629020;20383200;20495543;21159651;19913121;20628086;20734064;20819778;22454525;23034635;21656830;21741376;21532621;21630377;21116837;22031289;22002671;22508696;20301702;22381624;22352765;23424236;23144858;22469982;23201575;22577960 4838 H7C0E4;Q96S42 AB067632;ABBA01019626;AC022532;AMYH01002812;BC033585;BC039861;BC104976;BC112025;CH471083;NG_012448;NM_018055 AAH33585;AAI04977;AAI12026;BAB62524;EAW54403;NP_060525;Q96S42 Hs.370414 1792948;2119988;2186515 A008L32;PMC171388P1;RH44263 HTX5;MGC138230 OTTHUMP00000019754;nodal homolog APPROVED protein-coding 7865 08370 270100;601265 REVIEWED 1602460 NOL10 nucleolar protein 10 2 2 2 p25.1 10625984 10745255 - 10628345 10747549 - 10710892 10830113 - 6480464 11790298;9875212;9847074;15815621;15489334;14702039;12477932;12429849;22586326;21139048;21890473;21906983 79954 F5H6G7;H7C1Z3;Q9BSC4 ABBA01015622;ABBA01015623;ABBA01015624;AC007314;AC092687;AK024000;AK024137;AK290680;AK297169;AK299617;AL529108;AMYH01010105;AMYH01010106;BC005125;BC037841;BG390065;BM021448;CH471053;CK904284;DC346574;DN602355;NM_001261392;NM_001261394;NM_024894;NR_048552 AAH05125;AAK52071;AAY24068;BAB14765;BAB14836;BAF83369;BAG59662;BAG61545;EAX00953;EAX00954;EAX00955;NP_001248321;NP_001248323;NP_079170;Q9BSC4 Hs.222494 1708248;1713049;1848305;2131677;2148285;2163576;2178828;5022322;5024761;5126193 D11S2560;HSCZRG052;RH120309;RH12648;RH18306;RH36905;RH69302;SHGC-57278;SHGC-79387;WIAF-2224 FLJ13938;FLJ14075;PQBP5 H_NH0074G24.1;OTTHUMP00000147556;OTTHUMP00000147557;nucleolar protein 10;polyglutamine binding protein 5 protein-coding ENSG00000115761 25862 07849 VALIDATED 1601850 NOL12 nucleolar protein 12 22 22 22 q13.1 21884194 21891313 + 36412290 36419431 + 38082344 38089485 + 6480464 10591208;16169070;17081983;16565220;15489334;15461802;14702039;12529303;12477932;16385458;19913121;21832049;21044950;22190034 79159 Q9UGY1 ABBA01055482;AK057139;AK091928;AK294700;AK316443;AL160132;AMYH01012755;BC002808;BE241845;CH471095;CR456463;NM_024313;Z83844 AAH02808;BAG51871;BAG57858;BAH14814;CAB77148;CAG30349;EAW60179;EAW60180;NP_077289;Q9UGY1 Hs.632778 2176153;5491665 MARC_6377-6378:997299596:1;STS-AA029910 FLJ34609;MGC3731;Nop25;dJ37E16.7 OTTHUMP00000198151;OTTHUMP00000198174;OTTHUMP00000198175;nucleolar protein 12 protein-coding ENSG00000256872 28585 17537 VALIDATED 1603676 NOL11 nucleolar protein 11 17 17 17 q24.2 62286138 62312332 + 63144523 63170728 + 65714061 65740266 + 6480464 12429849;15489334;15334068;14702039;12477932;22586326;16169070;18029348;22916032;21832049;22939629;21139048;21890473;21906983;22178446;22797925 25926 B7Z5V9;J3QKS9;J3QKV1;J3QLQ6;J3QR28;Q9H8H0 ABBA01028983;ABBA01028984;AC006534;AK023702;AK025390;AK299483;AL110271;AMYH01008585;AY598333;BC001726;BC064404;CH471099;NM_015462 AAH01726;AAH64404;AAT06744;BAB14647;BAH13045;CAB53709;EAW89033;EAW89034;EAW89035;EAW89036;EAW89037;NP_056277;Q9H8H0 Hs.463936 DKFZp586L0724 nucleolar protein 11 protein-coding ENSG00000130935 24557 10900 PROVISIONAL 1352407 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 16 16 q22.1 65765371 65767127 + 67204405 67209643 + 1580863;6480464 12734105;10196175;16189514;9560245;18516683;18469522;18245485;18172857;18087040;17142452;16505176;15861191;15848180;15509781;15489334;15383280;12477932;12191471;10644725;17353931;14702039;16344560;19773279;20392691;19913121;20628086;21041716;22933109;22863883;22037876;22082675;22475487;21044950;21603976;22926851 8996 B4DFL0;H3BM67;H3BQJ5;H3BUN4;H3BUP2;J3QLS5;J3QLT7;O60936;Q5TZN6 ABBA01025432;AC074143;AF043244;AF064598;AF064599;AF064600;AK092623;AK294145;AK314899;AMYH01007745;BC012798;BF568452;BP215200;BQ685512;BT020158;CB959673;CH471092;DA370107;DA928396;NG_029566;NM_001185057;NM_001185058;NM_001276307;NM_001276309;NM_001276311;NM_001276312;NM_001276319;NM_003946 AAC18590;AAC18591;AAC18593;AAC18594;AAC34993;AAH12798;AAV38960;ABM83975;ABM87296;BAG37413;BAG57471;EAW83087;EAW83088;EAW83089;NP_001171986;NP_001171987;NP_001263236;NP_001263238;NP_001263240;NP_001263241;NP_001263248;NP_003937;O60936 Hs.513667 2110601;2137781;2140351;2144813;2158249;5016478 D16S3308;GDB:434012;NOL3_7932;RH41857;RH47869;WI-20202 ARC;CARD2;FCM;FLJ35304;MYC;MYP;NOP;NOP30 muscle-enriched cytoplasmic protein;nucleolar protein 3;nucleolar protein of 30 kDa APPROVED protein-coding ENSG00000140939 7869 05572 605235;614937 REVIEWED 1321698 NOL4 nucleolar protein 4 18 18 18 q12 28239387 28611397 - 29685062 30057444 - 31431064 31803515 - 1580863;6480464 9813152;16730941;16344560;16189514;15489334;14702039;12477932;9853615;8889548;16169070;19846067;20379614;22747683;21900206;21628590 8715 B3KRF4;B4DLW2;K7EID6;K7EIK8;K7ENM5;K7EPC5;K7EQ17;O94818 AA430033;AB015339;AB017800;ABBA01022460;ABBA01022461;ABBA01022462;ABBA01022463;AC010798;AC018972;AC087397;AC104985;AK091463;AK296539;AK297185;AK299850;AK312562;AMYH01008933;BC000313;BM973283;BT006763;CA865522;CH471088;CK822635;CR456730;DA780731;DC350556;DC375356;NM_001198546;NM_001198547;NM_001198548;NM_001198549;NM_003787;NR_036752 AAH00313;AAP35409;BAA34576;BAA34797;BAG52366;BAG59674;BAG61712;BAH12383;CAG33011;EAX01310;EAX01311;EAX01312;EAX01313;EAX01314;EAX01315;EAX01316;NP_001185475;NP_001185476;NP_001185477;NP_001185478;NP_003778;O94818 Hs.514795 1340209;1704130;1704440;1715453;1717597;1722149;1752975;1753067;2173503;2183665;2218574 D18S536;G60124;IB3519;NOL4__3915;RH120891;RH122103;SHGC-106862;SHGC-68719;SHGC-79750;SHGC-82933;WI-15749 CT125;HRIHFB2255;NOLP OTTHUMP00000163129;cancer/testis antigen 125;nucleolar localized protein;nucleolar protein 4;nucleolar-localized protein protein-coding ENSG00000101746 7870 04657 603577 VALIDATED 1319952 NOL8 nucleolar protein 8 NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008] 9 9 9 q22.31 65495949 65524185 - 94099461 94127659 - 95059640 95087876 - 737633;6480464 12477932 11073942;14660641;15132771;17081983;16344560;15489334;15164053;14702039;10737800;8125298;20379614;16963496;18029348 55035 A6H8Z4;F5GWN9;F5GXV1;F5H0I5;F5H101;F5H532;F5H540;F5H692;F5H797;F5H7D5;F5H8B8;F8WE42;Q7L3E2 AB105104;AB109030;ABBA01018584;AK000743;AK001049;AK022755;AK024245;AK024786;AK225322;AK297355;AK307408;AL136097;AMYH01021508;BC008491;BC013788;BC035041;BC064942;BC146810;BF906161;CH471089;CR627363;DA470513;NM_001256394;NM_017948;NR_046106 AAH13788;AAI46811;BAA91356;BAA91479;BAB14229;BAB14857;BAB15003;BAC99315;BAD12268;BAG59803;CAH10464;EAW62814;EAW62815;EAW62816;NP_001243323;NP_060418;Q76FK4 Hs.442199 1681398 RH40358 C9orf34;DKFZp686P12242;FLJ20736;Nop132;bA62C3.3;bA62C3.4 OTTHUMP00000021643;OTTHUMP00000021644;OTTHUMP00000021646;OTTHUMP00000021648;OTTHUMP00000021649;OTTHUMP00000240294;OTTHUMP00000240295;nucleolar protein 8;nucleolar protein Nop132 APPROVED protein-coding ENSG00000198000 23387 11397 611534 VALIDATED 1317567 NOL6 nucleolar protein 6 (RNA-associated) The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 33391458 33404047 - 33451351 33463941 - 33461351 33473941 - 6480464;6907045 11895476;16565220;15635413;15590835;15489334;15164053;14702039;12477932;12429849;11790298;19615732;21139048;21906983;19596686;22178446;22586326;21252943 65083 G8JLK7;Q9H675 ABBA01065050;ABBA01065051;AF361079;AF361080;AF361081;AK025612;AK026193;AK026258;AK056559;AK293969;AL356218;AMYH01019323;BC008298;BC008852;BC020450;BC030139;CB267269;CH471071;NM_022917;NM_139235 AAH08298;AAH08852;AAH30139;AAL74403;AAL74404;AAL74405;BAB15189;BAB15389;BAG51747;BAG57341;EAW58494;EAW58495;EAW58496;EAW58497;EAW58498;EAW58499;NP_075068;NP_631981;Q9H6R4 Hs.493709 1654491 STS-AA004501 FLJ21959;MGC14896;MGC14921;MGC20838;NRAP;UTP22;bA311H10.1 OTTHUMP00000000450;OTTHUMP00000000451;OTTHUMP00000000452;nucleolar RNA-associated protein;nucleolar protein 6;nucleolar protein family 6 (RNA-associated) APPROVED protein-coding ENSG00000165271 19910 14832 611532 REVIEWED 1343047 NOL7 nucleolar protein 7, 27kDa 6 6 6 p23 14855054 14860622 + 13723538 13729106 + 13615559 13621127 + 1580863;6480464 16205646;15635413;15489334;14702039;14574404;12477932;12429849;11790298;9875212;18029348;17207965;20206243;21832049;22990118;15840729;21900206;21818416;21890473;22505724 51406 H7C2B1;Q9UMY1 ABBA01022128;AF172066;AK075301;AL050299;AL441883;AMYH01016095;BC023517;BC062683;CH471087;CQ783443;NM_016167 AAD49745;AAH23517;AAH62683;ADQ32116;BAC11534;CAB43398;CAF86645;EAW55339;EAW55340;NP_057251;Q9UMY1 Hs.306242 1655819;1672176;1735616;1849713;2146661;2190581;7186405 D6S1223E;D6S1861;EST8F3;G30503;RH46758;WI-14668 C6orf90;MGC71933;PQBP3;RARG-1;dJ223E5.2 OTTHUMP00000016052;nucleolar protein 7;nucleolar protein of 27 kDa;polyglutamine binding protein 3;retinoic acid repressible protein protein-coding 21040 17641 611533 PROVISIONAL 1345070 NOM1 nucleolar protein with MIF4G domain 1 Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008] 7 7 7 q36.3 151169626 151193029 + 156435178 156458637 + 156742417 156765876 + 6480464 15715967;17965019;15231748;12477932;10329000;17353931;20379614;22990118;21576267;21906983 64434 Q5C9Z4 AACC02000068;ABBA01032371;AC006357;AK131362;AK308719;AMYH01018189;AY576779;BC007902;BC011187;CH236954;CH471149;NM_138400 AAH07902;AAI67821;AAT39521;EAX04563;NP_612409;Q5C9Z4 Hs.15825 1671574;1735710;1777905;1789502;2111035;2127663;2174674;2187695;5015961;5016596;5017227;5037552 D15S1477;D7S2166E;D7S3166;D7S3170;D7S600E;D8S2279;G31130;G38154;GDB:631802;RH47856;STS-M78653;WI-20882 C7orf3;FLJ16401;SGD1 OTTHUMP00000202107;SGD1 homolog;chromosome 7 open reading frame 3;nucleolar MIF4G domain-containing protein 1 APPROVED protein-coding ENSG00000146909 13244 18485 611269 PROVISIONAL 5133164 NONOP1 non-POU domain containing, octamer-binding pseudogene 1 16 16 16 q22.1 54304071 54306723 - 68347617 68349474 - 69789322 69791973 - 644035 ABBA01025540;AC092115;AMYH01007770;NG_009842 1769381;1788636;2119092 DXS7556;DXS9791;RH18146 pseudo 42031 INFERRED 5133100 NONOP2 non-POU domain containing, octamer-binding pseudogene 2 2 2 p16 61006658 61008596 - 61163065 61165003 - 9847074;19503088;22170493 100271700 ABBA01075341;AC010733;AMYH01010379;NG_009843 1775572 RH15853 pseudo 42032 INFERRED 1350134 NOMO1 NODAL modulator 1 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008] 16 16 p13.11 14835144 14897515 + 14927643 14990014 + 1580863;6480464 15616553;10493829;15231747;16713569;15862967;15257293;15231748;12477932;21319273;8076819;1310294;16169070;9267806;22939629;21906983;22990118;21890473;21963094;21987572;21988832;23000965;22505724;22832245 23420 H3BUC9;Q15155 ABBA01001564;ABBA01153444;ABBA01197957;AC136443;AK125530;AMYH01007182;BC065535;BI459869;NM_014287;U91318;X57398 AAC15783;AAH65535;CAA40655;NP_055102;P69849;Q15155 Hs.743963 5021130;5021531;5021535;5091821;5113805;5114699 D16S3340;RH64828;RH70841;RH98769;SHGC-11964;SHGC-61035 NOMO3;Nomo;PM5 OTTHUMP00000115643;nodal modulator 1;nodal modulator 3;pM5 protein 3;pM5 protein, telomeric copy APPROVED protein-coding ENSG00000103512 30060 11398 609157 REVIEWED 1354376 NOLC1 nucleolar and coiled-body phosphoprotein 1 10 10 q24.32 103901923 103913617 + 103911933 103923627 + 1580863;6480464 17353931;7657714;19541936;19129172;18790693;18253863;17531812;17081983;17038328;17001309;16964243;16344560;16341674;15302935;15146197;15144186;14702039;12477932;12446766;12167624;10567578;9016786;8630004;8125298;7584028;7584026;9013635;9553145;9679133;8972203;17620599;21266110;11571651;15324660;16385451;19381672;8657117;21832049;22863883;22939629;17342744;18029348;22586326;12777385;15161933;20360068;22178446;19471022;21139048;21555454;21693764;21890473;21906983;21264300;22190034;22952844;22906532 9221 Q14978;Q96J17 ABBA01063171;AI937215;AK056755;AK225101;AK314363;AL500527;AL520884;AMYH01003017;AY820769;BC001883;BC006769;BM473772;BM849059;CH471066;CN312242;D21262;DA588285;NM_004741;Z34289 AAH01883;AAH06769;AAV67777;ABM82788;ABM85977;BAA04803;BAG36995;BAG51805;CAA84063;EAW49713;EAW49714;EAW49715;EAW49716;EAW49717;EAW49718;NP_004732;Q14978 Hs.523238 1685081;1735986;1773890;2120121;2121687;2129177;2151511;2153651;5016600;5037824 D10S1274E;D10S2136;G64290;NIB1786;RH18143;RH25273;RH44513;RH48900;RH93291;STS-AA037752 KIAA0035;NOPP130;NOPP140;NS5ATP13;P130 140 kDa nucleolar phosphoprotein;HCV NS5A trans-regulated protein 13;HCV NS5A-transactivated protein 13;OTTHUMP00000020356;hepatitis C virus NS5A-transactivated protein 13;nucleolar 130 kDa protein;nucleolar and coiled-body phosphoprotein 1;nucleolar and coiled-body phosphprotein 1;nucleolar phosphoprotein p130;nucleolar protein p130 protein-coding ENSG00000166197 15608 602394 VALIDATED 1605957 NOL9 nucleolar protein 9 1 1 1 p36.31 5695263 5728526 - 6507792 6537168 - 6581407 6614658 - 6480464 19394292;21063389;16710414;15489334;14702039;12477932;12429849;12107410;11790298;8889548;22586326;21139048;21890473;21906983;21252943;22990118 79707 Q5SY16 ABBA01035456;AK026976;AK091284;AK289653;AL591866;AMYH01000217;BC009257;BC012439;BC063639;BC073860;BC094836;BC105095;BC110849;BC112278;BC143646;BE383415;BF969522;BI828678;BU728251;BX393201;CA391953;CA432392;CH471130;NM_024654 AAH09257;AAH12439;AAH63639;AAH94836;AAI05096;AAI10850;AAI12279;ADR83383;BAB15611;BAF82342;EAW71550;NP_078930;Q5SY16 Hs.59425 1659962;2147800;2164049;5015404;5015861;5015961;5016596;5020740;5020946;5020988;5021228;5021369;5022450;5022463;5037552;7185938 A006V30;D10S16;D10S275;D15S1477;D22S958;D3S1673;D8S2279;GDB:312794;GDB:631802;L17705;L17796;L17809;L17971;RH68223;SHGC-63524 FLJ23323;Grc3;MGC131821;MGC138483;NET6 OTTHUMP00000001049;nucleolar protein 9;polynucleotide 5'-hydroxyl-kinase NOL9;polynucleotide 5'-kinase protein-coding ENSG00000162408 26265 08667 VALIDATED 1354081 NOMO3 NODAL modulator 3 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008] 16 16 p13 16233890 16296168 + 16326389 16388668 + 6480464 16713569;16344560;15616553;15257293;12477932;10737800;10493829;9267806;8076819;15231747;15231748;15862967;16169070;21875946;18781797;21987572;22990118;22505724 408050 F5H826;I3L0Q6;I3L1G6;I3L2X2;I3L516;I3NI42;J3KN36;P69849;Q1LZN2 AC136624;AI752685;AMYH01007182;AMYH01007183;AU132793;AW503115;BC006531;BC013837;BG982746;BI459221;BI596373;BM507095;BQ948282;BQ954152;BU169681;BU526741;BX383108;CD653707;DA392676;DB461977;DR760717;NM_001004067 AAH06531;AAI56527;NP_001004067;P69849 Hs.460141 5021130;5021531;5021535;5091821;5113805;5114699 D16S3340;RH64828;RH70841;RH98769;SHGC-11964;SHGC-61035 Nomo OTTHUMP00000243997;nodal modulator 3;pM5 protein 3;pM5 protein, middle copy APPROVED protein-coding ENSG00000103226 25242 12376 609159 REVIEWED 1351743 NOP14-AS1 NOP14 antisense RNA 1 4 4 p16.3 2848465 2863990 + 2937273 2952794 + 6480464 12477932;9734812 317648 AB000464;AB000465;AB000466;ABBA01029482;ABBA01029483;AL390065;AMYH01013886;BC020978;BC041605;CH471131;NR_015453 EAW82495 Hs.398178;Hs.731500 1854325;2118060;2156020;2177350 A006Q42;SGC34157;SHGC-67833;STS-R53618 C4orf10;RES4-24 APPROVED miscrna ENSG00000249673 20205 PREDICTED 1343780 NOMO2 NODAL modulator 2 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 p12.3 18418683 18480935 - 18511182 18573434 - 6480464 17261586;15616553;15489334;15257293;12477932;10493829;9267806;8125298;21900206;21139048;21693764;21890473;21906983;21963094;21987572;21988832;23000965;22268729;22505724 283820 H3BMJ6;H3BNC4;H3BPS9;H3BTW1;Q4G177;Q5JPE7 ABBA01176706;AC126755;AC136618;AK225803;AL512687;AL832855;AMYH01007253;AMYH01007254;AMYH01007255;AMYH01007256;AMYH01007257;AMYH01007258;AMYH01007259;AMYH01007260;AMYH01007261;AMYH01007262;AMYH01007263;BC028389;BC041131;BG830626;NM_001004060;NM_173614 AAH28389;AAH41131;CAC21645;CAI46162;NP_001004060;NP_775885;Q5JPE7 Hs.460141 5021130;5021531;5021535;5091821;5113805;5114699 D16S3340;RH64828;RH70841;RH98769;SHGC-11964;SHGC-61035 Nomo;PM5 OTTHUMP00000162055;nodal modulator 2;pM5 protein 2;pM5 protein, centromeric copy APPROVED protein-coding ENSG00000185164 22652 12375 609158 REVIEWED 1342956 NOP56P1 NOP56 ribonucleoprotein pseudogene 1 6 6 6 p22.1 30357715 30358086 - 28859389 28859760 - 28751410 28751781 - 646192 ABBA01038026;AL662890;AL844539;AL901607;AMYH01016193;BX088523;CR753651;NG_006572 1724321 RH119082 NOL5B;NOL5BP;NOP56-L;dJ207F6.1 APPROVED pseudo 13962 INFERRED 1353461 NOP10 NOP10 ribonucleoprotein This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008] 15 15 15 q14-q15 11436557 11438002 - 32421209 32422654 - 34633917 34635362 - 1580863;6480464;6907045;7240710 20008900;9843512;16601202;17507419;15814878;15635413;15489334;15044956;12477932;19095616;17620599;11074001;19615732;20360068;21139048;20301779 55505 H0YM60;Q9NPE3 AB043103;AB043104;ABBA01038538;ABBA01038539;AC021822;AMYH01006511;BC008886;BC063023;BM554889;BQ218536;CH471125;HB964878;HD022288;NG_011562;NM_018648 AAH08886;AAH63023;BAA96107;BAA96133;CBG17030;CBV30476;EAW92303;NP_061118;Q9NPE3 Hs.14317 1722379;2141391 G60261;SHGC-33497 DKCB1;MGC70651;NOLA3;NOP10P H/ACA ribonucleoprotein complex subunit 3;NOP10 ribonucleoprotein homolog;OTTHUMP00000159812;homolog of yeast Nop10p;nucleolar protein 10;nucleolar protein family A member 3;nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs);snoRNP protein NOP10 APPROVED protein-coding ENSG00000182117 14378 07571 224230;606471 REVIEWED 1313732 NOP14 NOP14 nucleolar protein NOP14 plays a role in the processing of the pre-18S rRNA and small ribosomal subunit assembly (Liu and Thiele, 2001 [PubMed 11694595]).[supplied by OMIM, Jun 2009] 4 4 4 p16.3 2850855 2876019 - 2909461 2934916 - 2939663 2965118 - 6480464 17081983;16565220;15489334;12477932;11694595;9734812;9661704;23382074;22939629;22990118;22586326;19596686;19471022;21890473;21906983;22425761 8602 E9PFK5;P78316 AB000467;ABBA01029482;ABBA01029483;AF040965;AK024755;AK025692;AK292939;AL390065;AMYH01013886;BC009760;BC017358;BC026035;BC053635;CH471131;NM_003703 AAB97011;AAH09760;AAH26035;AAH53635;BAA19121;BAF85628;EAW82489;EAW82490;EAW82491;EAW82492;EAW82493;NP_003694;P78316 Hs.627133 1700704;1729487;2156020;2177350;5015961;5022322;5022651;5037552;7184650;7184757 A006Q42;D11S2560;D11S2921;D15S1477;D4S95;D8S2279;RH103975;SHGC-67833 C4orf9;NOL14;RES4-25;RES425;UTP2 NOP14 homolog;NOP14 nucleolar protein homolog;OTTHUMP00000216964;OTTHUMP00000216966;OTTHUMP00000216986;OTTHUMP00000217567;chromosome 4 open reading frame 9;nucleolar complex protein 14;nucleolar protein 14;nucleolar protein 14 homolog;probable nucleolar complex protein 14 APPROVED protein-coding ENSG00000087269 16821 12827 611526 VALIDATED 1605076 NOP16 NOP16 nucleolar protein NOP16 is transcriptionally regulated by c-Myc (MYC; MIM 190080), upregulated in breast cancer, and overexpression is associated with poor patient survival (Butt et al., 2008).[supplied by OMIM, Jun 2009] 5 5 5 q35.2 172686561 172690862 + 175743548 175748194 - 175810940 175815763 - 6480464 18373870;15489334;12477932;12429849;11790298;11042152;10810093;21832049;22939629;18029348;21139048;21145461 51491 D6RC60;D6RG37;D6RIC3;Q6PIM0;Q9Y3C1 ABBA01033501;AC138956;AF151019;AF151875;AF161460;AK300883;AK303281;AMYH01015859;AY561704;BC019331;BC032424;BC040106;BM988284;CH471195;CR457169;NM_001256539;NM_001256540;NM_016391 AAD34112;AAF29075;AAF36105;AAH19331;AAH32424;AAH40106;AAS66977;ADR82683;BAG62525;BAG64360;CAG33450;EAW85083;EAW85084;EAW85085;NP_001243468;NP_001243469;NP_057475;Q9Y3C1 Hs.696283 1671593;1735464;2147655;2191807 D5S1586E;G22291;MARC_8179-8180:996688360:1;WI-16923 HSPC111;HSPC185 HBV pre-S2 trans-regulated protein 3;NOP16 nucleolar protein homolog;OTTHUMP00000223273;OTTHUMP00000223274;OTTHUMP00000223277;hypothetical protein HSPC111;nucleolar protein 16;nucleolar protein 16 homolog APPROVED protein-coding ENSG00000048162 26934 13694 612861 VALIDATED 1343083 NONO non-POU domain containing, octamer-binding This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009] X X q13.1 70420192 70437743 + 70503042 70521018 + 1580863;6480464 18439917;16148043;8371983;9360842;19464723;19165527;18952062;18677406;18655028;18077367;18042045;17965020;17639083;17507659;17452459;17081983;16964243;16344560;16189514;15860628;15635413;15590677;15489334;15057275;14702039;12944487;12810069;12672026;12477932;12417296;12403470;12358429;11897684;11790299;21145461;11790298;11710964;11525732;11259580;10858305;9756848;9393982;9341872;8626664;8439294;10821857;16169070;12171929;17803295;20460684;19144721;21209461;17148452;19217333;19423654;19874820;16055720;16159877;16196087;20000738;21566083;20508642;15790595;22939629;20421735;21642354;17314511;19135240;19928837;21252943;15848144;18457437;18781797;19596686;19850743;20360068;20639865;21081666;21819346;21915321;21987572;22079093;22102035;22108332;22118674;17620599;19542561;22446626;22213094;21139048;21549307;21693764;21890473;21906983;21963094;16236267;19471022;22416126;17361185;19322201;21628590;21670149;15576338;17725712;19380743;22053931;22174317;22505724;22797925;22944692;16417406 4841 C9IZL7;C9J4X2;C9JJ13;C9JYS8;H7C367;Q15233 ABBA01067707;ABBA01067708;ABBA01067709;AK055406;AK291140;AK297144;AL590762;AMYH01022534;AU119361;BC002364;BC003129;BC004113;BC010049;BC012141;BC025280;BC025352;BC028299;BC069616;BC069639;CH471132;CR456761;DA116840;DA779425;L14599;L32558;NM_001145408;NM_001145409;NM_001145410;NM_007363;U02493;U89867;Y11289 AAA03427;AAA36727;AAC37578;AAC51852;AAH02364;AAH03129;AAH12141;AAH28299;AAH69616;AAH69639;BAF83829;BAH12508;CAA72157;CAG33042;EAX05298;EAX05299;EAX05300;NP_001138880;NP_001138881;NP_001138882;NP_031389;Q15233 Hs.533282;Hs.700344 1702880;1769381;1788636;2108317;2119092;5015861;5016478;5020881;5022450;5022588;5037552;5109281;5492539;7185938 D10S16;D10S275;D1S1425;D5S1597E;D8S2279;DXS1500;DXS7556;DXS9791;GDB:434012;L17709;NONO_8509;RH18146;UniSTS:481582 NMT55;NRB54;P54;P54NRB 54 kDa nuclear RNA- and DNA-binding protein;55 kDa nuclear protein;DNA-binding p52/p100 complex, 52 kDa subunit;OTTHUMP00000023506;OTTHUMP00000023507;OTTHUMP00000023508;non-POU domain-containing octamer (ATGCAAAT) binding protein;non-POU domain-containing octamer-binding protein;p54(nrb) APPROVED protein-coding ENSG00000147140 7871 02098 300084 REVIEWED 1312158 NOP2 NOP2 nucleolar protein 12 12 p13 6536298 6547741 - 6666036 6677498 - 1580863;6480464 21145461;12080348;1394192;17081983;16964243;16565220;16344560;15302935;14702039;12477932;12429849;12370829;9654073;9115287;8089149;8088812;3422591;2576976;2372471;2199030;19394292;19454010;22990118;21182205;21386990;21252943;22939629;18029348;22586326;15848144;19596686;20360068;21081666;21139048;21693764;21890473;21903422;19471022;21907836;21628590;22797925 4839 F5GWB7;F5GYR3;F5H359;F5H5X6;F5H709;F5H8G6;P46087 ABBA01017644;ABBA01017645;AC006064;AK056208;AK129852;AK307582;AMYH01004204;AU131299;BC000656;BC065257;BC082985;BC106072;BC128183;BC128184;CH471116;CX868076;DC316656;M32110;NM_001033714;NM_001258308;NM_001258309;NM_001258310;NM_006170;X55504 AAA36398;AAH00656;AAH65257;AAH82985;AAI06073;AAI28184;AAI28185;BAG51648;CAA39119;EAW88780;NP_001028886;NP_001245237;NP_001245238;NP_001245239;NP_006161;P46087 Hs.534334 1662621;1666728;1673699;2217670;5024256 D12S1466;NOL1_4026;RH125;RH64827;WI-15438 MGC117384;MGC149287;MGC149288;NOL1;NOP120;NSUN1;p120 NOL1/NOP2/Sun domain family, member 1;NOP2 nucleolar protein homolog;NOP2/Sun domain family, member 1;OTTHUMP00000240260;OTTHUMP00000240261;OTTHUMP00000240262;OTTHUMP00000240263;OTTHUMP00000240264;OTTHUMP00000240265;nucleolar protein 1, 120kDa;nucleolar protein 2 homolog;proliferating-cell nucleolar antigen p120;proliferation-associated nucleolar protein p120;putative ribosomal RNA methyltransferase NOP2 APPROVED protein-coding ENSG00000111641 7867 01244 164031 VALIDATED 1350414 NOS2P1 nitric oxide synthase 2 pseudogene 1 17 17 17 q11.2 22840282 22853494 - 23002596 23016857 - 25978469 25991681 - 1580863 19086053;11525805;9441901;7558036 645740 ABBA01015068;AC015688;AMYH01008275;NG_006943;U65699 NOS2C pseudo 7875 600720 INFERRED 1343413 NOS2P2 nitric oxide synthase 2 pseudogene 2 17 17 p11.2 18340929 18347524 - 18400404 18406599 - 1580863 18977241;17601350;12736741;11525805;7558036;7522210 201288 ABBA01196638;AC107983;AL353997;AMYH01008175;NG_001568;U18332;U18333 AAC50232;AAC50233 NOS2B pseudo 7874 600719 INFERRED 2301119 NOS2P3 nitric oxide synthase 2 pseudogene 3 17 17 p11.2 20286636 20291249 + 20346099 20350562 + 11997339 339256 ABBA01154187;AC015818;NG_002717 pseudo 35124 INFERRED 619551 NOS1 nitric oxide synthase 1 (neuronal) The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011] 12 12 q24.2-q24.31 116135362 116283965 - 117645947 117799607 - 1581141;1581142;1581143;1581144;1580863;1358519;1300048;1642127;1642129;1642130;1642131;1581689;1642136;1642141;1642145;1642151;1642133;1642134;1642140;1642144;1642148;1642132;1642138;1642142;1642147;5132595;5132628;5132615;5132600;5132607;5132860;5132869;5132870;5131897;5132594;5132629;5132863;5132864;5132868;5132632;5132865;5132590;5131923;5132627;5131936;5132592;5147998;6480464;6907045;6480433 16093913;15913838;15775788;15466641;11809160;17574276;16950411;16788145;16627802;16323284;17673519;17545029;17310378;17083474;12853118;17721248;17549628;17347455;17191663;16316351;17607508;17451676;17200156;19291395;12816735;14767694;20494920;19797159;10833424;10673365;9552178;21321533;19408167;12200626;20609134;19286931;11890749;11020342;12064512;19763802;20802999;14760158;20633123;19709742;11226670;21718970 22227051;22579290;17029414;7488039;7545544;18391107;17568574;18048451;9892689;16276418;17892502;17027776;19603529;19505917;19457105;19433760;19423521;19415232;19372141;19371282;19328558;19326438;19258923;19247692;19161160;19124687;19103196;19087148;12210288;12140778;12081996;12081486;11960979;11849441;11849436;11786430;11747091;11668616;11591728;11590170;11546971;11525805;11511520;11404282;11284722;11112111;11086993;11052978;11043403;10874031;10824095;10681501;10518591;10488080;10400690;10221915;10187848;9837926;9808772;9791007;9459447;9353265;9111048;8922396;8879752;8864115;8625413;7685260;7682706;7678401;7558036;7528745;7515942;1385308;1379716;1375933;10443886;10203575;10068656;9870939;8943206;7561697;8581564;7521167;11867766;9412493;12237228;19086053;18977241;18971208;18953332;18720901;18675932;18671896;18614941;18606955;18591664;18563708;18544180;18541744;18465682;18257968;18086269;18058820;18042235;18024942;17970747;17924542;17703412;17690329;17660395;17601350;17579350;17536218;17492662;17466601;17459909;17448763;17418914;17365914;17359361;17351927;17351066;17328085;17174475;17161551;17161399;16950998;16848803;16690617;16569214;16413742;16389274;16380905;16238787;16229016;16191396;15856945;15765269;15699372;15548660;15466472;15287858;15251453;15242984;15194886;15191553;15180967;15167446;15161750;15119548;15105416;15094474;15088155;15080837;15075442;15044250;15033959;14980078;14759629;14757827;14752097;14711010;14623375;14615895;14602725;12947326;12911502;12908999;12802542;12787407;12782337;12777376;12759556;12715886;12686399;12646269;12630910;12572877;12531780;12490535;12485841;12477932;12445599;12421162;12403769;22875507;16780147;11149895;12184796;18821565;19423540;19513863;19552920;19657898;19687346;19711100;19726320;19726747;19805695;19844207;19851341;19948738;19997858;20016223;20028935;20043967;20056178;20186396;20379614;20385275;20395963;20406964;20421643;20438785;20470850;20503287;9880522;20888049;20921115;21039601;21041608;21052031;20705916;20052609;20435320;20232214;20447567;20729196;20547234;21119059;19089323;19913121;20581851;20589495;20605417;20628086;20645313;20818978;20060328;20537599;21098972;21403107;21545853;21613201;21281558;21722677;10751385;21056687;21413022;21520349;23109339;23159936;21204701;21577011;21642500;21679499;21467233;21620982;21612410;18784277;19642705;21724667;22318606;22457368;22448456;21847584;22003386;22008325;22560594;22374200;21505843;22095614;22486744;22885173;23062293;23289611;22937753;22589245;21922604;17360663;22797309 4842 A0PJJ7;B3VK56;B4DG68;C9J5P6;P29475 ABBA01020027;ABBA01020028;ABBA01020029;AC026364;AC068799;AF446131;AF446132;AF446133;AF446134;AF446135;AF446136;AF446137;AF446138;AF446139;AF446140;AJ004918;AK294435;AK307481;AMYH01004783;AY098642;AY445095;BC010126;BC033208;BE207961;CH471054;D16408;EU753241;L02881;NG_011991;NM_000620;NM_001204213;NM_001204214;NM_001204218;U17326;U17327;U31466 AAA36376;AAA62405;AAB49040;AAB60654;AAH33208;AAI56400;AAI72474;AAR07069;ACF04132;BAA03895;BAG57679;CAA06218;EAW98108;EAW98109;EAW98110;NP_000611;NP_001191142;NP_001191143;NP_001191147;P29475 Hs.654410;Hs.684465;Hs.684466;Hs.684467;Hs.735734 1336905;1700412;1736198;1744209;1758155;1761961;1773027;1779944;1782652;2137290;2160544;5016478;5022200;5022578;5022651;5024761;5037552 D11S2921;D12S1144E;D12S1718;D1S1423;D8S2279;GDB:314063;GDB:434012;GDB:437697;L18426;RH103827;RH36905;RK903_904;SGC31491;SHGC-145895;SHGC-147540;SHGC-149522;SHGC-154191 IHPS1;N-NOS;NC-NOS;NOS;bNOS;nNOS N-NOS;NC-NOS;NOS type I;OTTHUMP00000174427;OTTHUMP00000174428;bNOS;constitutive NOS;neuronal NOS;nitric oxide synthase, brain;peptidyl-cysteine S-nitrosylase NOS1 APPROVED protein-coding ENSG00000089250 7872 01226 163731 REVIEWED 1318142 NOP9 NOP9 nucleolar protein 14 14 14 q12 4633722 4639003 + 23838938 23844214 + 24769098 24774374 + 6480464 18029348;17081983;15635413;15489334;12508121;12477932;19913121;20628086;22990118;21139048;21653694;22174317;22505724 161424 A8MY76;H0YJP7;Q86U38 AB095941;ABBA01061340;AK123717;AL096870;AMYH01005611;BC015481;BC025332;BX248018;BX647311;CH471078;NM_174913 AAH25332;BAC23117;BAG53945;CAD62343;CAI46005;EAW66034;EAW66035;NP_777573;Q86U38 Hs.708040 1666759;1674113;1676852;1685165;1687101;1778752;2106991 CIDEB_7222;D14S1220;RH91413;RH93439;RH94061;STS-AA009760;STS-Z41293 C14orf21;KIAA2021 NOP9 nucleolar protein homolog;OTTHUMP00000028177;OTTHUMP00000164792;nucleolar protein 9;pumilio domain-containing protein C14orf21 APPROVED protein-coding ENSG00000196943 19826 12643 PROVISIONAL 733462 NOP58 NOP58 ribonucleoprotein 2 2 2 q33.1 196882417 196920291 + 202838760 202876629 + 203130515 203168384 + 6480464;6907045 10925205;10679015;17081983;16565220;15635413;15489334;14702039;12477932;12429849;12417735;12032086;11042152;10648622;10606270;15574333;20797632;16687569;17636026;17643375;18029348;19620283;19454010;22939629;21182205;19928837;19471022;21139048;21693764;21890473;21906983;12777385;18781797;20360068;21987572;22178446;22586326;20805487;21628590;21145461;22174317 51602 F8WED0;H7BZ72;Q9Y2X3 ABBA01062558;ABBA01062559;AC064836;AF123534;AF161469;AF263608;AK023975;AK300844;AK307396;AL117554;AMYH01011407;BC001707;BC009306;BC018805;BC032592;CH471063;NM_015934 AAD27610;AAF29084;AAF91394;AAH09306;AAH32592;AAY24145;ABM81794;ABW03291;BAG51244;BAG62495;CAB55989;EAW70308;NP_057018;Q9Y2X3 Hs.471104 2180548;5112223;5125047 RH102461;RH76425;SHGC-56589 HSPC120;NOP5;NOP5/NOP58 NOP58 ribonucleoprotein homolog;OTTHUMP00000163741;nucleolar protein 5;nucleolar protein 58;nucleolar protein NOP5/NOP58 APPROVED protein-coding ENSG00000055044 29926 11036 PROVISIONAL 730951 NOS2 nitric oxide synthase 2, inducible Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 q11.2-q12 23107919 23151682 - 26083792 26127555 - 1580261;1580264;1580265;1580268;1298023;1580936;1580937;1580938;1580939;1580940;1580941;1582119;1358529;1300048;2313218;2313220;2313210;2313212;2312484;2313214;2313217;4891455;4891910;4891426;4891957;4892078;2325278;2325257;2325259;2325248;2325262;4891411;4891438;4891143;4891375;4891468;4891419;4891432;4891441;4891444;4891445;4891488;4889847;4891919;4891937;4891463;4891480;4891909;2325277;2325241;2325254;2325265;2325251;4891153;4891154;4891161;4891384;4891482;4891497;4891494;4891924;4891925;4891935;4891950;4891952;4891953;4891958;4892083;2325250;4891407;4891414;4891449;4891454;4891462;4144112;4891508;2325242;4891490;4892082;2325280;4891465;4891470;4891374;4891398;4891486;4891506;4891415;4144122;4891457;4891947;4891913;4891927;5132602;5132626;5132864;5132590;1358527;5132592;5508758;5508734;5509038;5509046;5509060;5509075;5509107;5509041;5508749;5508753;5508848;5509045;5509069;5509098;5509055;5508747;5508751;5509073;5509078;5509102;5509103;5509105;5509573;5509577;5509578;5508740;5509582;5508721;5509059;5509100;5509065;5509037;5509580;5147745;5147779;4142808;6480464;5147744;6484113;6906896;6907045;7240710;6218988;5509597;7175307 15800493;15773227;15144861;16601845;11702222;16113050;15854664;14599979;12883834;16456243;14764920;16552365;10674474;18802679;18773271;19587355;19554009;19395279;19535454;19283362;10639453;18254476;20497690;16540403;14587983;10353629;11687972;11592783;15165031;11196200;16866779;12051993;21196918;20169057;11104748;20842520;20144956;12160931;12797490;15205031;20472710;17703412;17674769;18080188;16256382;20841959;18413499;10383909;15257108;12660813;10784593;14704000;21179332;21171972;21163295;19241604;20668217;19800904;19938219;17189532;17177683;18098375;17056580;17030871;16703578;16517573;11076311;14991947;17287083;21184738;11789718;11258566;16813666;20377877;18714530;15222037;20430162;11112135;16094703;17324147;16787348;20360752;18524391;20558778;18829681;20956973;19575238;8952535;17607157;17890324;17161822;19912632;14767587;19286931;19763802;12826065;19709742;21957179;21976127;22019508;21915076;21880869;21846719;9349594;22023455;21960425;21958875;22011580;21930116;21857957;21844074;21903766;21963495;21959178;21847581;21846355;22001939;22000010;21993016;21970803;21959174;21948338;21975127;21911582;16908860;21896669;22019501;21867702;22020035;21947361;15665729;20519137;20141620;16882535;21913985;21894146;20554417;21898269 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33;23338972;22865486;22992806;22331023;22215089;23089636 4843 Q9UD42 A39980;AB022318;ABBA01015066;AC130289;AF068236;AK304252;AMYH01008275;BC130283;BC144126;CH471159;D26525;DQ060518;EU332854;L09210;L24553;L26055;NG_011470;NM_000625;S75615;S76479;U05810;U20141;U31511;X73029 AAA36375;AAA56666;AAA59171;AAB49041;AAB60366;AAC19133;AAD14179;AAD14226;AAI30284;AAI44127;AAY43131;ABY87543;ADR83439;BAA05531;BAA37123;BAG65119;CAA02473;CAA51512;EAW51048;EAW51049;EAW51050;NP_000616;P35228 Hs.709191 1334514;1714625;1729472;1729703;1743829;1792440;2113512;2165143;2217672;5117120;5124156 (CA)/(GT)_R1;AFM311ZB1;D17S1878;D17S33;D17S582;GDB:374306;GDB:437694;NOS2A_3339;PMC151125P1;RH119978;RH79885 HEP-NOS;INOS;NOS;NOS2A NOS type II;NOS, type II;OTTHUMP00000163279;hepatocyte NOS;inducible NO synthase;inducible NOS;nitric oxide synthase 2A (inducible, hepatocytes);nitric oxide synthase, inducible;nitric oxide synthase, macrophage;peptidyl-cysteine S-nitrosylase NOS2 APPROVED protein-coding ENSG00000007171 7873 01225 145500;163730;611162 REVIEWED 1318922 NOP56 NOP56 ribonucleoprotein Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jan 2009] 20 20 20 p13 2697715 2703502 + 2581254 2587039 + 2633178 2639039 + 1580863;6480464;6907045 9372940;19331828;17081983;16565220;15635413;15489334;15188402;14702039;12777385;12477932;12429849;12417735;11790298;11780052;10737800;15574333;21145461;22353375;17636026;17643375;19620283;20085707;19454010;21683323;16344560;21182205;22939629;16196087;17314511;19928837;21139048;21693764;21890473;21906983;19596686;20360068;22178446;21628590;17620599;22492559;22505724 10528 H0Y653;H0YDU4;O00567;Q5JXT2 ABBA01053795;AK097186;AK292721;AL049712;AMYH01011668;BC004937;BC018421;BC035369;BC104791;BC104793;BG429581;BX647439;BX647513;CH471133;CV338938;DA805367;NG_032136;NM_006392;NR_027700;Y12065 AAH04937;AAH18421;AAI04792;AAI04794;BAF85410;CAA72789;EAX10584;EAX10585;EAX10586;EAX10587;EAX10588;EAX10589;NP_006383;O00567 Hs.376064 1712230;1769739;1853230;2108315;2116650;2169998;2217468;5123460;5491266 D20S559E;G07287;G54023;IDH3B_3390;MARC_6809-6810:992007497:1;NOL5A_7975;RH74;WI-16193;WI-18557 NOL5A;SCA36 NOP56 ribonucleoprotein homolog;OTTHUMP00000030035;nucleolar protein 56;nucleolar protein 5A (56kD with KKE/D repeat);nucleolar protein 5A (56kDa with KKE/D repeat);spinocerebellar ataxia 36 APPROVED protein-coding ENSG00000101361 15911 10119 614153;614154 REVIEWED 732118 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009] 1 1 q23.3 160306205 160604864 + 162039581 162339813 + 6480464 9459447;11043403;19339362;19305409;19255043;19247217;19204306;19180230;19111066;19077434;19076153;19019189;18927126;18785031;18766325;18551039;18511491;18474209;18430503;18337493;18235038;18077426;17903306;17576865;17565224;16710414;16648850;16202394;16146415;15707951;19305408;15489334;12477932;11867766;11086993;11076863;10827173;9455484;22179838;19913121;20602773;20628086;20722683;20921115;20921969;19289301;19553464;19587794;19643915;19800018;19822806;19937226;19943157;19948975;20031603;20062061;20062063;20215044;20305679;20379614;20398908;20538168;20541371;20605702;21832049;22019493;21959512;21685173;21996201;22726844;23166209;23251661;22682551 9722 E9PIP8;E9PSG0;H7BY61;O75052 AB007933;ABBA01047307;ABBA01047308;ABBA01047309;ABBA01047310;AF037070;AI198232;AL450163;AL512785;AL590408;AMYH01001463;AY841899;BC041382;BC112295;BC143771;BC143780;CH471067;NG_015979;NM_001126060;NM_001164757;NM_014697 AAC39656;AAI11929;AAI12296;AAI18500;AAI43772;AAW57298;BAA32309;EAW90700;NP_001119532;NP_001158229;NP_055512;O75052 Hs.731942 1338548;1692020;1705996;1706894;1715067;1717023;1723807;1760053;1761707;1762253;1763021;1779486;1787510;2110301;2151052;5124327 AL033662;CAPON__4506;D1S2675;GCT16C03;RH118641;RH119485;RH124073;RH93526;SHGC-107422;SHGC-145682;SHGC-146116;SHGC-146766;SHGC-153465;SHGC-155436;SHGC-78631;SHGC-80935 6330408P19Rik;CAPON;MGC138500 C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON);C-terminal PDZ ligand of neuronal nitric oxide synthase protein;OTTHUMP00000025714;OTTHUMP00000228952;OTTHUMP00000228953;OTTHUMP00000228955;c-terminal pdz domain ligand of neuronal nitric oxide synthase;carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein;ligand of neuronal nitric oxide synthase with carboxyl-terminal PDZ domain;nitric oxide synthase 1 adaptor protein APPROVED protein-coding ENSG00000198929 16859 12023 605551 REVIEWED 6777890 NOTCH2P1 notch 2 pseudogene 1 1 120428929 120429550 + 100420260 ABBA01068518;AL359752;AMYH01000980;NG_027134 1764519 SHGC-148116 pseudo 44253 INFERRED 1348478 NOSTRIN nitric oxide synthase trafficking Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004] 2 2 q31.1 169367353 169429811 + 169643049 169721849 + 631971;1580863;6480464 11489260 12446846;16722822;16807357;19401682;18980613;16234328;15596140;14702039;12477932;21183735;15342556;20379614;20442744;19399414;20936779;23455924;21351530 115677 E9PDM0;F8WCW8;H7BZA6;Q8IVI9 ABBA01004958;AC009475;AC069137;AC208170;AJ532842;AK002203;AK093444;AK123698;AK290254;AMYH01011242;BC014189;BC093072;BF114987;BP334580;BQ899074;CH471058;DQ402497;DW437437;NM_001039724;NM_001171631;NM_001171632;NM_052946 AAH14189;AAH93072;AAX93055;AAY24097;ABD62889;ABM83597;ABM87125;BAE46614;BAF82943;BAG52717;CAD58724;EAX11292;EAX11293;EAX11294;EAX11295;NP_001034813;NP_001165102;NP_001165103;NP_443178;Q8IVI9 Hs.189780 1340813;1656834;1657459;1679203;1718269;1754227;2134950;2135909 D2S1372;D2S1776;D2S2632;D2S2873;RH122906;RH18467;RH94201;SHGC-132253 DaIP2;MGC20702 BM247 homolog;ENOS traffic inducer;OTTHUMP00000204805;OTTHUMP00000204806;OTTHUMP00000204850;OTTHUMP00000204851;OTTHUMP00000207342;OTTHUMP00000207343;eNOS-trafficking inducer;endothelial nitric oxide synthase traffic inducer;nitric oxide synthase traffic inducer;nitric oxide synthase trafficking;ortholog of mouse disabled 2 interacting proein 2 APPROVED protein-coding ENSG00000163072 20203 06324 607496 VALIDATED 732750 NOTCH3 notch 3 This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008] 19 19 p13.2-p13.1 15131444 15172792 - 15270444 15311792 - 625426;1580764;1580765;1580766;1580767;1580768;1580769;1334441;1580863;2302204;2306423;6480464;6484113;6907045;7240710 11971902;15694192;15378071;15304596;12810003;11861701;8878478;9388399;17761886;15247148 4557798;20472562;20554499;21951372;22153798;17292860;17474147;19404845;19373490;19372454;19293235;19242647;19208840;19167727;19150886;19139365;19056668;19054571;19043263;19018300;19006080;18974129;18948701;18941948;18765654;18758477;18632624;18626519;18572291;18499132;18483410;18339869;18184405;18075987;18069660;18060036;18022198;17996090;17939118;17920003;17878719;17854869;17853970;17822871;17822320;17804716;17696940;17690848;17573339;17390743;17331978;17301032;17158237;16998728;16899352;16833034;16807713;16796587;16717210;16492242;16426270;16107360;16009764;15987768;15096408;15057824;14767686;14714274;12678157;12511775;12482954;12480758;12370315;12210282;12136071;12134625;11978185;11891328;11706120;11559313;11518718;11404076;11101851;11032621;11006133;10802807;10716263;10712431;10079256;8794055;8485581;7835890;7698746;22120716;21103979;21245095;20069356;20689064;17289033;19174371;19417009;19576955;19603167;19735738;19825845;19835636;19855400;19859875;19881544;20038773;20167921;20329594;20359736;20040020;19816816;20651241;20671266;20169447;19913121;20628086;20628624;20634891;20813781;20301673;20801121;20624166;21078731;21118965;20614134;20935329;21124806;20819128;21705670;21628316;23022380;21169401;21471519;21743488;22204979;23649698;22948298;21551231;21602525;21673954;21508102;22079340;21217157;21502811;21890822;21900206;21726900;21940951;21139048;21702048;21890473;22159056;22218279;22006983;21920521;23226563;22310065;22526456;22623959;22079830;22082899;21616505;22422895;21409506;21940234;22292737;22493555;19966856;22117196;22396495;22806125;23019585;23412372;21988832;22664156;21852154;23584202;22367839;22705236;23010708;23036509;23028706;22153900 4854 M0QX38;M0QZN3;M0R3C9;Q9UM47 AB209447;ABBA01051097;ABBA01051098;ABBA01051099;ABBA01051100;ABBA01051101;ABBA01051102;ABBA01051103;ABBA01051104;ABBA01051105;AC004257;AC004663;AF058900;AMYH01009543;AMYH01009544;CH471106;DQ156540;DQ156541;DQ156542;DQ156543;NG_009819;NM_000435;U97669;X79439 AAB91371;AAC04897;AAC14346;AAC15789;BAD92684;CAA55955;EAW84466;NP_000426;Q9UM47 Hs.8546 1336222;1725763;1791720;1796416;1854769;2158651 D19S1009;D19S923;G62127;NOTCH3_362;PMC122602P1;SHGC-57293 CADASIL;CASIL;IMF2 Notch homolog 3;neurogenic locus notch homolog protein 3;notch 3 APPROVED protein-coding ENSG00000074181 7883 02607 125310;600276;615293 REVIEWED 1348141 NOTO notochord homeobox 2 2 2 p13.2 73280211 73289166 + 73283303 73291565 + 73429386 73438340 + 6480464 15815621;15231714 344022 A8MTQ0 ABBA01075579;AC010913;AK295936;AK316410;AMYH01010436;NM_001134462 A8MTQ0;BAG58721;BAH14781;NP_001127934 Hs.694384 OTTHUMP00000225958;homeobox protein notochord;notochord homolog;notochord homolog (xenopus laevis) protein-coding 31839 PROVISIONAL 1352421 NOTCH2NL notch 2 N-terminal like 1 1 q21.2 143920468 143997269 + 145209111 145285912 + 6480464 16713569;16303743;14702039;14673143;12477932;16341674;21988832 388677 Q7Z3S9 ABBA01127912;AC239799;AK000887;AK022008;AK075065;AL592307;AL833369;AMYH01001373;BC010154;BC019835;BC065219;BC084572;BC090943;BM792637;BX537434;NM_203458 AAH10154;AAH19835;AAH65219;AAH84572;AAH90943;ACE87389;ADZ15853;BAC11381;CAD97676;CAH73993;CAH73994;NP_982283;Q7Z3S9 Hs.655156;Hs.683989;Hs.728902 1681552;1691848;1692136;1692288;1712991;1719557;1720381;1727439;1727937;1752965;5022450;5023733;5113731 AL033805;AL033980;AL034022;AU048745;D10S275;G62977;G63387;RH120586;RH123510;RH123942;RH69557;RH69609;SHGC-106854 FLJ35032;FLJ55807;N2N Notch homolog 2 (Drosophila) N-terminal like;Notch homolog 2 N-terminal like protein;OTTHUMP00000015593;OTTHUMP00000015594;notch homolog 2 N-terminal-like protein APPROVED protein-coding 31862 14833 VALIDATED 737367 NOTCH1 notch 1 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq, Jul 2008] 9 9 q34.3 138508717 138560059 - 139388896 139440238 - 1358543;1580863;724389;1334450;1580758;1580761;1580759;1580760;2302204;2299153;1334443;2325328;2325330;2325324;2306423;2325310;2325323;2325288;6480464;6484113;6907045;7240710 12853432;11900468;15472075;16025100;15058751;16707600;16738328;17761886;11078798;15057910;17297654;15887117;19028876;15247148;18942116;20484026;20056840 20817637;20554499;22020917;22116551;22182918;18560356;18559519;18552977;18497996;18490439;18469855;18456406;18449208;18427106;18411416;18359760;18354251;18347015;18320325;18311147;18296609;18296446;18292942;18292500;18239137;18219106;18192969;18192230;18184405;18155729;18084619;18079963;18069660;18056171;18055449;17984306;17980397;17967789;17948123;17922104;17920003;17901244;17874453;17873882;17851046;17822320;17804701;17716607;17671232;17664272;17662764;17652726;17646409;17636029;17604336;17573339;17560996;17513037;17497677;17434929;17425682;17404512;17392684;17368826;17353266;17344417;17317671;17316355;17309564;17301032;17284587;17252014;17186020;17114293;17107915;17090547;17046738;17028268;17008890;16990763;16951331;16887975;16880534;16871543;16822655;16785210;16729972;16713569;16688224;16651424;16622004;16618808;16608439;16536739;16530044;16507111;16449526;16434391;16378632;16365048;16344560;16322473;16317090;16298817;16287852;16239965;16179393;16160079;16136053;16096376;16079893;16011479;15987768;15976178;15904468;15824732;15817159;15781650;15774577;15756589;15650752;15576031;15563588;15563463;15492845;15492044;15485896;15448134;15280477;15240571;15213460;15146197;15044485;14996707;14762442;14756819;14726396;14678992;14670925;14645224;14638857;14602722;14583609;14567914;12960155;12913000;12829602;12795601;12781689;12768030;12697902;12682059;12644465;10713164;1831692;19549918;19491270;19453261;19407245;19404845;19376776;19351817;19349467;19340001;19339697;19245433;19239437;19234458;19228774;19209236;19167678;19160126;19151773;19151708;19147749;19122673;19118200;19109228;19091404;19074836;19057901;19047145;19025652;19023031;19008176;18984862;18924608;18777195;18758480;18758479;18703315;18664540;18663146;18663143;18660822;18633435;18628966;18625637;18604200;18593982;18593928;18593923;18593716;18593473;18570928;12532332;12527910;12509463;12496471;12486116;12482957;12477932;12374741;12370358;12370315;12357247;12208848;12145413;12123574;12065598;12050162;12048239;11978185;11964309;11940670;11848684;11836628;11827460;11777909;11739188;11700865;11604511;11604490;11585921;11518718;11511084;11425854;11418662;11226752;11112321;11101851;11006133;10935626;10882063;10837024;10747963;10669757;10637481;10221902;10206645;10082551;10079256;10077672;9653148;9620803;9590294;9244302;9169836;9111040;8755477;8749394;8642313;7698746;7512837;1764995;17646408;11404076;16169070;11564735;15546612;22665268;20962575;21471519;21224848;20012562;21052088;20348880;20069356;20351309;21398698;21471203;11390662;16319921;17318174;17575125;17927876;17991315;18549623;18844067;19247952;19396152;19479935;19550121;19590514;19603167;19604236;19631984;19635999;19680556;19682396;19695258;19700410;19701457;19704010;19717984;19724860;19724883;19725072;19728763;19751190;19771395;19778842;19800882;19808903;19812212;19838210;19847202;19901516;19914349;19953094;19956862;20008221;20036815;20060575;20106965;20118921;20145124;20146266;20147635;20154720;20193271;20193370;20194747;20204271;20339081;20347265;20368328;20418862;20490451;20515335;21280156;20517681;20827750;20823234;20800871;20930168;20058190;20443831;20351182;16501043;20040020;20372862;20578140;20819778;20861909;20950370;19686049;20052673;20459529;20551051;20978353;20538790;20730882;19799080;20801121;20861920;20944675;20206691;20348013;20454918;20479883;20683149;20813007;21042738;21302811;21196490;21342503;20193454;10940313;21251836;21466361;19794083;21308734;21362320;21481777;20951801;21480340;20442780;20819128;21464222;20740684;21124806;18440314;20336604;20491628;20736329;19923082;20388374;21056041;20965628;21147854;21238798;21245387;21881870;23022380;23074278;23124208;22718117;23087364;22972921;22490851;22673746;22695916;23049092;23300792;23300864;23569274;22929735;23349727;22780927;22814294;23028920;21420785;17849174;21463919;21602795;21631271;21632454;16510869;21516124;21768114;21841793;21876634;21119685;21326611;21518768;21558417;21622856;21810559;21807868;21665937;19850743;21078624;21756827;21778948;23072667;23161489;23179396;21498615;21670202;21685328;21798893;21798897;19000719;20208568;21556011;23603912;21673954;21835957;22128911;21643850;20346213;21771876;22022427;20720151;21737748;21820430;21868761;21892768;21625236;21775206;22006338;22065781;22052196;22084425;22100894;22348144;22424712;22510873;22535768;21857154;21880637;21939555;21979940;21993452;22066479;22075757;22093097;22110751;22118425;22196886;21743299;21909072;21963094;22846929;23086478;23138133;11997524;22902365;23040356;23319603;23339193;23454378;20444726;21139048;21785827;21906983;22077063;22143792;22150311;22986536;23409141;21761283;22080880;22173954;22526456;22271085;21277031;21629222;22004682;22101766;22393458;22249266;22915591;21145176;21667253;21818118;21892607;21984373;21989054;21993686;22027644;22123293;22199353;22210878;22357466;22378079;22207691;22311010;22330335;22348356;21679465;21869831;21938432;22075160;22171922;22218807;22225590;22279105;22325781;22363487;20573067;20812035;21124883;21165952;22038626;22194996;22197545;22275240;22388891;22479394;22778262;22571487;23243274;23289374;23167503;23171551;23542114;23630292;23798201;17526737;22506064;21457232;23295735;23239744;22956186;23053901;23226395;23380742;23531595;23423517;23589494;22463491;22954590;23161436;22940701;22968660;22619094;22705236;22768113;22965987;23067214;23435461;23576735;23578328;22581828;22809957;22914328;22030773;22781569;22922832;22349824;22438124;22833359;22877736;23103515;23252402;22585622;22863622 4851 P46531;Q9NXX4 AB209873;ABBA01022709;ABBA01022710;ABBA01022711;ABBA01022712;AF308602;AK000012;AL354671;AL592301;AMYH01021865;BC013208;BC039147;BC046127;BC049843;BC063597;CH471090;CN431067;CR457221;DA324222;HI574318;M73980;NG_007458;NM_017617 AAA60614;AAG33848;BAA90883;BAD93110;CAG33502;CBX47648;EAW88241;NP_060087;P46531 Hs.495473 1680154;1791722;1792290;1794936;1796412;2162429;5022411 D19S235E;NOTCH1_950;PMC122602P2;PMC140667P1;PMC85812P1;RH80945;STS-M73980 TAN1;hN1 Notch homolog 1, translocation-associated;OTTHUMP00000022594;neurogenic locus notch homolog protein 1;notch gene homolog 1, (drosophila);translocation-associated notch protein TAN-1 APPROVED protein-coding ENSG00000148400 7881 01827 109730;190198 REVIEWED 1320636 NOSIP nitric oxide synthase interacting protein The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012] 19 19 19 q13.33 46928301 46953143 - 54750780 54775615 - 50058725 50083829 - 6480464 11149895;15548660;16135813;15635413;15489334;14702039;12477932;10810093;21145461;17207965;12746455;22939629;18029348;19471022;21139048;21890473;21906983;10737800;20082095;22505724 51070 M0QX85;M0R1K2;M0R1T7;M0R3B2;Q9Y314 ABBA01032918;ABBA01032919;AC010619;AF132959;AK092444;AK291535;AK300720;AMYH01009913;AMYH01009914;BC009299;BC010077;BC011249;BC047314;BE826708;CH471177;DB470916;NM_001270960;NM_015953 AAD27734;AAH09299;AAH10077;AAH11249;ADQ33134;BAF84224;BAG62395;EAW52501;EAW52502;EAW52503;NP_001257889;NP_057037;Q9Y314 Hs.7236 1699614 RH103409 CGI-25 eNOS interacting protein;eNOS-interacting protein;nitric oxide synthase-interacting protein APPROVED protein-coding ENSG00000142546 17946 17642 REVIEWED 735618 NOS3 nitric oxide synthase 3 (endothelial cell) Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 7 7 q36 150319080 150342609 + 150688144 150711687 + 1580269;1580271;1580277;1580278;1580279;1580280;1580281;1580282;1580143;1580283;1580284;1580286;1580863;1358752;2292097;2292119;2292124;2292067;2292077;2292105;2292131;2292133;2292068;2292075;2292076;2292078;2292110;2292111;2292070;2292088;2292100;2292113;2292134;2292140;2292074;1580937;2292125;2292142;2292080;2292081;2292109;2292089;2292090;2292091;2292103;2292146;2298575;2292098;2292126;2292129;1642825;2289120;2292144;2292151;2292087;4892007;4892062;4892042;4891426;4891909;4892068;4892012;4892044;4892058;4892080;4892053;4891415;4891407;4892040;4892052;4891989;4891999;4892004;4892049;4892051;4891960;4891991;4892059;4892061;4891993;4892038;4892009;4892054;4892010;4891954;4892011;4892013;4891961;4891384;4892039;5132626;4892043;5132628;5132631;5132592;5132602;5131897;5132864;5128481;5132862;6480464;6484113;6907045;7240710;5131286 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4846 A0S0A6;E7ESA7;H7C4V4;Q14434 AACC02000108;ABBA01035167;ABBA01035168;AC010973;AF032908;AF387340;AF400594;AF415200;AF519768;AI082109;AK223636;AK225827;AK292928;AK300390;AK302686;AK315213;AMYH01018142;BC063294;BC069465;BU731828;CB987955;CH471173;D26607;DA859819;DQ256129;DQ256130;DQ256131;EU332855;L10709;L23210;L26914;M93718;M95296;NG_011992;NM_000603;NM_001160109;NM_001160110;NM_001160111;S80791;X76303 AAA36364;AAA36365;AAA36372;AAA36373;AAA36374;AAB87083;AAD14336;AAH63294;AAH69465;AAK71989;AAK83389;AAL07497;AAM74944;ABB79838;ABB79839;ABB79840;ABY87544;ADR82746;BAA05652;BAD97356;BAF85617;BAG37648;BAH13275;BAH13779;CAA53950;EAL24494;EAW54069;NP_000594;NP_001153581;NP_001153582;NP_001153583;P29474 Hs.647092 1336097;1682487;1743813;1778577;2136011;2140945;2148011;2172879;2177268;5491258;7185486;7185527;7187021 D7S1880;D7S2866;D7S636;D7S759;GDB:374071;GDB:4585682;MARC_6739-6740:982537599:1;NOS3;RH99113;STS-U24214 ECNOS;eNOS EC-NOS;NOS type III;NOSIII;OTTHUMP00000212826;OTTHUMP00000213183;OTTHUMP00000213184;OTTHUMP00000213185;cNOS;constitutive NOS;endothelial NOS;nitric oxide synthase 3, endothelial cell;nitric oxide synthase, endothelial 2289327;2289330 BW383_H;BW384_H APPROVED protein-coding ENSG00000164867 7876 01224 104300;145500;163729;189800;601367 REVIEWED 1354309 NOTCH4 notch 4 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. This gene may be associated with susceptibility to schizophrenia in a small portion of cases. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008] 6 6 p21.3 32270598 32299822 - 32162620 32191844 - 1358753;1580863;2302204;2299153;2299156;2299155;2299154;6480689;6480690;6480692;6480775;6480788;6480862;6480790;6480791;6480671;6480691;6480681;6480464;6484113;6907045 14732589;17761886;11078798;17440163;8030284;15531924;16894623;15211628;21654846;21297263;20706108;18802018;20132067;19143814;19546852;21779181;12589427 20554499;11823422;7671825;8681805;11532344;9576833;19404845;19242354;19156168;19143821;19116923;18593923;18239137;18184405;17920003;17822320;17696940;17496152;17452726;17192952;17054719;16969274;16538185;16378929;16007227;15684396;15653273;15187023;15115916;15091315;15009827;14966150;14961038;14730600;14701863;14651518;12873802;12814948;12782960;12627456;12605097;12496471;12477932;12370315;11909975;11901359;11836628;11803454;11585921;11518718;11407996;11381258;11381257;11239712;11119607;11112321;11101851;10645000;10221902;10079256;9693032;9168133;7835890;10932176;22694956;20069356;18583979;19571808;19659809;19851445;20041166;20068161;20331378;20643108;21159651;20596622;20587610;20602615;20673877;20832056;21085055;21045140;21408207;21124806;21203870;23212060;21602525;21726900;20444726;21402876;21864059;23894747;22066479;21679465;21804548;18663143;22084425;22732452;22001063;22488909;20467438;23028341;23251661;23266558;23326239;23237809 4855 B0S882;B4DFM3;Q5SPL1;Q9UII9 AB023961;AB024520;AB024578;ABBA01038108;ABBA01038109;AK131314;AK290785;AK293692;AK294161;AL662830;AL662884;AL705928;AL845464;AL845509;AMYH01016235;BC033869;BC063815;BC140782;BC144540;BC144541;BQ023880;BX284686;BX284927;BX927239;CR812478;CR933878;D63395;D86566;NG_028190;NM_004557;U89335;U95299 AAC32288;AAC63097;AAH63815;AAI40783;BAA09708;BAA13116;BAA88951;BAA88952;BAB20317;BAF83474;BAG57129;BAG57484;NP_004548;Q99466 Hs.436100 1340067;1669477;1672022;1773859;1785954;1792292;2106233;2106235;2106237;2106239;2189565;2220318;5015961;7185566 AF021123;AF021125;CTG-NotCH4;D15S1477;D6S1014;D6S2742;D6S2894;D6S2918;D6S2919;NOTCH_4;PMC140667P2;SHGC-145102;WI-12121 FLJ16302;INT3;MGC74442;NOTCH3 Notch homolog 4;OTTHUMP00000029050;neurogenic locus notch homolog protein 4 APPROVED protein-coding ENSG00000204301 7884 01290 164951 REVIEWED 1317566 NOVA2 neuro-oncological ventral antigen 2 19 19 19 q13.3 43247770 43281664 - 51134631 51168497 - 46442771 46476657 - 1580863;6480464 17436242;15057824;10676814;10368286;9789075;9344654;10735272;18029348 4858 M0R1A0;Q9UNW9 ABBA01040957;ABBA01040958;ABBA01040959;AC006540;AC008623;AC011545;AF083898;AI990298;AMYH01009857;AMYH01009858;BQ631784;CH471126;NM_002516;U70477 AAB88661;AAC72355;AAD13116;AAF98365;AAI68367;EAW57397;NP_002507;Q9UNW9 Hs.375439 1674462 WI-14082 ANOVA;NOVA3 RNA-binding protein Nova-2;astrocytic NOVA1-like RNA-binding protein;neuro-oncological ventral antigen 3 protein-coding 7887 03588 601991 VALIDATED 733357 NOTCH2 notch 2 This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 1 1 p13-p11 120255699 120413799 - 120454176 120612317 - 1580762;1580763;1580863;69906;2302204;6480464;6484113;6907045;7240710 16773578;14726396;1295745;17761886 22695918;22161246;9244302;10079256;11823422;12531696;11306509;1303260;12760378;19502414;19453261;19445024;19404845;19339697;19330030;19324937;19276344;19247373;19147558;19139842;19119320;19054571;19020324;19020323;18714373;18703315;18591388;18567820;18508802;18372903;18311147;18266235;18239137;18184405;18087195;17920003;17675579;17652726;17573339;17401372;17081983;16899352;16289162;15976178;15621797;15565166;15507668;15492845;15302935;15231748;14702039;14609630;14567914;12931033;12794074;12477932;12370315;11978185;11836628;11577080;11532344;11518718;11346656;11101851;10958687;10551863;10221902;9720489;9528802;9032325;8661110;7698746;19602701;22526456;21443520;21471519;20069356;20351182;16751776;20643108;20482849;20712903;20816152;20879858;20889853;16344560;19913121;20571754;20628086;17593975;19603167;19653042;19670153;19701457;19720844;19741467;19794065;19833888;19862325;19933996;20011512;20075150;20203524;20379614;21378989;21466361;21378985;20829885;21124806;21238798;23022380;21437251;21976141;22970250;23401378;21681853;21726900;22006338;22190591;21139048;21890473;21639801;22915591;21793104;22209762;18654987;20301450;21963094;23000965;23243020;22717580;23380742;22939629;23011796;22891273;22891276;23349727;23455922 4853 Q04721;Q6IQ50;Q9UFD5;R4GN02 ABBA01068518;ABBA01068519;AC245008;AF308601;AF315356;AK027869;AK307843;AL049386;AL133036;AL359752;AL512503;AL596222;AMYH01000980;BC071562;BG718124;CH471122;DB290699;GQ231534;NG_008163;NM_001200001;NM_024408;U50549;U77493;X80115 AAA36377;AAB17664;AAB19224;AAG37073;AAH71562;ADB12482;BAB55419;CAB61366;CAH70182;EAW56718;EAW56719;NP_001186930;NP_077719;Q04721 Hs.487360 1340273;1664589;1664591;1681552;1691848;1692136;1692288;1712991;1719557;1720381;1727439;1727441;1727937;1752965;1768332;1770471;1787036;1796414;2118590;2132411 A002B26;AL033805;AL033980;AL034022;Cda0hb04;D1S2696;G19892;G62977;G62978;G63387;NOTCH2_1357;RH120586;RH123510;RH123942;RH69557;SHGC-106854;SHGC-152728;SHGC-54558;SHGC-75400;SHGC-75405 AGS2;HJCYS;hN2 Notch homolog 2;OTTHUMP00000014035;neurogenic locus notch homolog protein 2;notch gene homolog 2, (drosophila) APPROVED protein-coding ENSG00000134250 7882 02606 102500;600275;610205 REVIEWED 1606450 NOTUM notum pectinacetylesterase homolog (Drosophila) 17 17 17 q25.3 76514308 76540092 - 77503678 77512353 - 79910383 79919057 - 6480464 18429952;12477932;17207965 147111 C9JYG8;K7EIG3;Q6P988 AB062438;ABBA01019657;AC145207;AMYH01008724;AMYH01008725;BC036872;BC060882;BX365997;CH471099;NM_178493 AAH36872;AAH60882;ADQ33021;BAB93501;EAW89729;NP_848588;Q6P988 Hs.106137 1669750;1704530 SGC33854;SHGC-83062 OTTHUMP00000205633;OTTHUMP00000211169;protein notum homolog protein-coding ENSG00000185269 27106 14073 609847 VALIDATED 1351952 NOX3 NADPH oxidase 3 This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009] 6 6 q25.3 155758194 155818729 - 155716502 155777037 - 1580863;6480464 18682798;17336700;17140397;16949073;16507994;15824103;15181005;14574404;11376945;10974555;9882350;15509740;20647313;20056178;20102709;19913121;20628086;22277655;21901141;19941336;21483469 50508 Q9HBY0 ABBA01025582;AF190122;AF229177;AL031773;AMYH01016766;CH471051;FB293916;NG_011995;NM_015718 AAG15435;AAG17121;AAI60172;CAP47045;EAW47689;NP_056533;Q9HBY0 Hs.247776 1338224;7186240 D6S442 GP91-3;MOX-2 NADPH oxidase 3;NADPH oxidase catalytic subunit-like 3;OTTHUMP00000017475;gp91phox homolog 3;mitogenic oxidase 2 APPROVED protein-coding ENSG00000074771 7890 06165 607105 REVIEWED 732996 NOV nephroblastoma overexpressed The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009] 8 8 q24.1 120497882 120505776 + 120428552 120436678 + 1580971;1580863;6480464 16675545 18984771;18418052;18245529;18245471;18089610;18066593;17968313;17566092;17463287;17340618;17163153;17101694;16670264;16600215;16344560;16145471;15824736;15611078;15489334;15340161;15181016;15053922;14606958;14519668;12902636;12695522;12519873;12477932;12147716;12050162;11891184;11502835;10852911;10474687;10084601;9927660;8622864;7520150;1334251;20800603;20237132;20336664;19286457;19695675;19706598;19834535;20010302;20139355;20182440;21145881;15647383;8756624;21209863;21514448;21423212;18029348;21344378;21909110;22345292;21898398;21988832;23061738;22507556;21784733 4856 P48745 ABBA01037815;AC021733;AK294289;AK312355;AMYH01018986;AY082381;BC015028;CH471060;CR457432;CS021388;DA162276;NG_009779;NM_002514;X78351;X96584 AAH15028;AAL92490;ABM82105;ABM85287;BAG35274;BAG57572;CAA55146;CAA65403;CAG33713;CAI58925;EAW91984;EAW91985;NP_002505;P48745 Hs.235935 2109571 NOV_8510 CCN3;IBP-9;IGFBP-9;IGFBP9;NOVh CCN family member 3;IBP-9;IGF-binding protein 9;IGFBP-9;OTTHUMP00000228107;insulin-like growth factor-binding protein 9;nephroblastoma-overexpressed gene protein homolog;nov protein;novH;protein NOV homolog APPROVED protein-coding ENSG00000136999 7885 01291 164958 REVIEWED 1315446 NOXA1 NADPH oxidase activator 1 This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 9 9 q34.3 139437668 139448679 + 140317847 140328858 + 1580863;6480464 12477932;12473664;9610721;16636067;18568954;17913709;17602954;17189823;16713569;14702039;12716910;12657628;20609497;20454568;16052631;18606821;20083677;20230789;20943948;19755710;21078624;22244833 10811 Q86UR1 AB095031;ABBA01022770;ABBA01022771;AF039697;AI860821;AK055812;AK098341;AMYH01021905;AMYH01021906;AY255769;AY927790;AY927791;BC041594;BC110840;BX322799;NM_001256067;NM_001256068;NM_006647 AAC18046;AAH41594;AAI10841;AAP13480;AAY16126;AAY16127;BAC76710;NP_001242996;NP_001242997;NP_006638;Q86UR1 Hs.495554 FLJ25475;MGC131800;NY-CO-31;SDCCAG31;p51NOX NADPH oxidase activator 1;NCF2-like protein;Nox activator 1;OTTHUMP00000162588;antigen NY-CO-31;inhibitory NADPH oxidase activator 1;p51-nox;p67phox-like factor;serologically defined colon cancer antigen 31 APPROVED protein-coding ENSG00000188747 10668 17644 611255 REVIEWED 1351928 NPAP1 nuclear pore associated protein 1 This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provided by RefSeq, Aug 2012] 15 15 15 q11-q13 3083541 3091593 + 22471634 22479686 + 24920541 24928593 + 10783265;17337158;18627056;19066619;19843651;20020165;22694955;20301505 23742 Q9NZP6 ABBA01048688;AC100720;AF179681;AMYH01006482;CH471151;NG_021413;NM_018958 AAF72107;AAI48367;EAW57612;NP_061831;Q9NZP6 Hs.649663 1783170 SHGC-112390 C15orf2 OTTHUMP00000159462;nuclear pore-associated protein 1;protein C15orf2 APPROVED protein-coding ENSG00000185823 1190 08506 610922 REVIEWED 7207016 NPAP1P1 nuclear pore associated protein 1 pseudogene 1 10 52456027 52456909 + 100420827 ABBA01078429;AL589794;AMYH01002733;NG_025503 pseudo 45018 INFERRED 7206909 NPAP1P2 nuclear pore associated protein 1 pseudogene 2 10 81621018 81621893 + 100420829 AL135925;AL512662;AMYH01002879;NG_025525 pseudo 45019 INFERRED 7206874 NPAP1P3 nuclear pore associated protein 1 pseudogene 3 10 89137330 89138205 + 100420830 AL645612;AMYH01002924;NG_025530 pseudo 45020 INFERRED 7206877 NPAP1P4 nuclear pore associated protein 1 pseudogene 4 9 82972021 82975133 - 100533674 ABBA01033961;AL354937;AMYH01021439;NG_028721 pseudo 45021 INFERRED 7206879 NPAP1P5 nuclear pore associated protein 1 pseudogene 5 9 90470495 90471501 - 100420671 ABBA01016329;AL772337;AMYH01021479;NG_023843 pseudo 45022 INFERRED 7206908 NPAP1P6 nuclear pore associated protein 1 pseudogene 6 9 82477935 82481790 + 100533675 ABBA01033960;AL161912;AMYH01021439;NG_028726 pseudo 45023 INFERRED 732308 NOX1 NADPH oxidase 1 This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] X X q22 99984969 100015990 - 100098313 100129334 - 633401;1580972;1580863;1580973;6480464 10485709;16214837;16380495 16636067;10615049;11805326;18023288;11331784;18347018;17673675;19451223;19415232;19379824;19344766;19282028;19251588;19213944;19095734;19028840;18620548;18571150;18535108;18518859;18463417;18463161;18454176;18436303;18429753;18398843;18397177;18331504;18309110;18287880;18076063;18073139;18055552;18037128;18005670;17963706;17913709;17908694;17611574;17562703;17460729;17336700;17200123;17182005;17079781;17015444;16880255;16778989;16762923;16507994;16469512;16468977;16329988;16162660;16049136;15993942;15797632;15772651;15708375;15489334;15452132;15389790;15375166;15322091;15256399;15203187;15110393;15102091;14674687;14670934;14617635;12955083;12817011;12716910;12657628;12477932;11970841;11970839;10974555;9882350;15509740;15847608;20171273;20457132;20177149;20525691;20407038;20347035;19061439;19084060;19268528;19339277;19671250;19755710;19834108;19843513;20018867;20056178;20194723;20346360;19531958;20818133;20523355;20715105;20943948;19781192;21167810;21181544;21237524;21176887;21629295;21507984;21326871;21723410;23077033;20501406;20919940;21877197;22277655;23056263;21918473;22329647;22589701;22513785;23564668;23627409;22773830;20110267;23322165;23349388;22918955;23241962;19130504;19941336;20617170;21029719;21483469;22487967 27035 A6NGA6;H0Y581;Q1ZYL4;Q5H9D4;Q9Y5S8 ABBA01064123;ABBA01064124;ABBA01064125;AF127763;AF166326;AF166327;AF166328;AI285296;AJ438989;AK292201;AK313678;AMYH01022723;BC075014;BC075015;BX956931;CH471115;DQ314883;DQ424904;NG_012567;NM_001271815;NM_007052;NM_013955;Z83819 AAD38133;AAF23232;AAF23233;AAF23234;AAH75014;AAH75015;ABC40742;ABD83669;BAF84890;CAD27735;EAX02820;EAX02821;EAX02822;EAX02823;EAX02824;NP_001258744;NP_008983;NP_039249;Q9Y5S8 Hs.592227 1793520 PMC228420P1 GP91-2;MOX1;NOH-1;NOH1 MOX-1;NADH/NADPH mitogenic oxidase subunit P65-MOX;NADPH oxidase 1;NADPH oxidase 1 variant NOH-1L;NADPH oxidase homolog-1;NOX-1;OTTHUMP00000023657;OTTHUMP00000023659;mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating);mitogenic oxidase 1 APPROVED protein-coding ENSG00000007952 7889 02203 300225 REVIEWED 1346053 NOVA1 neuro-oncological ventral antigen 1 This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 14 14 q 25984929 26136800 - 26915089 27066960 - 1580863;6480464 8398153;8558240;18029348;18218628;16713569;16041372;15489334;15146197;12808107;12477932;10737800;10719891;10368286;9154818;16169070;18822086;19584346;19680635;21832049;21900206 4857 B7Z770;F8VW64;F8VWX1;F8VYI3;F8W659;G8JLA5;H0YHZ1;I3L2B5;J3KQU3;P51513 ABBA01061362;ABBA01061363;AI569678;AK226114;AK289639;AK291022;AK291468;AK301526;AL079343;AL132716;AMYH01005619;BC075038;BC075039;BE644739;BE762927;BX431656;CH471078;CN409914;NM_002515;NM_006489;NM_006491;R60636;U04840;Z70771 AAA16022;AAH75038;AAH75039;BAF82328;BAF83711;BAF84157;BAH13506;CAA94810;EAW65990;EAW65991;EAW65992;EAW65993;EAW65994;EAW65995;NP_002506;NP_006480;NP_006482;P51513 Hs.31588 1720879;1855197;2113644;2219192 G59267;NOVA1__6065;RH66321;UniSTS:479181 Nova-1 OTTHUMP00000028191;OTTHUMP00000178762;OTTHUMP00000243488;OTTHUMP00000243489;OTTHUMP00000243490;OTTHUMP00000243492;OTTHUMP00000243493;RNA-binding protein Nova-1;onconeural ventral antigen 1;paraneoplastic Ri antigen;ventral neuron-specific protein 1 APPROVED protein-coding ENSG00000139910 7886 03693 602157 REVIEWED 1353478 NOX5 NADPH oxidase, EF-hand calcium binding domain 5 This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 15 15 q23 67009918 67136127 + 69222839 69349501 + 1580863;6480464 11483596;18672905;18468509;18466778;17947454;17603936;17587483;17346712;17275676;17214994;17164239;17122966;17089090;16873416;16707484;16339585;16179589;16177112;15994299;14982937;14702039;12186557;12121572;11376945;9882350;22387196;15509740;12477932;16344560;18614798;20056178;20086178;20230798;20339118;20576920;21297032;21319793;21525435;22291013;22427510;21527745;22503554;12975309;21901141;22182486;23118302;23251661;21483469;23023377 79400 A3QRJ0;Q96PJ9 ABBA01038770;AC027088;AC087639;AF317889;AF325189;AF325190;AF353088;AF353089;AI091544;AK026011;AK074058;AK074071;AK314689;AMYH01006741;AY166601;BC125097;BC125098;DA739867;DA868876;DQ314884;DQ413001;NG_030464;NM_001184779;NM_001184780;NM_024505;NR_033671;NR_033672 AAG33638;AAI25098;AAI25099;AAK57193;AAK57194;AAK57338;AAK57339;AAO33926;ABC40743;ABD92513;BAB15319;BAB84884;BAB84897;BAG37241;NP_001171708;NP_001171709;NP_078781;Q96PH1 Hs.657932 1756583;1783314;2185493 SHGC-143620;SHGC-84716;STS-H15004 MGC149776;MGC149777;NOX5A;NOX5B NADPH oxidase 5;OTTHUMP00000164443;OTTHUMP00000164444;OTTHUMP00000164445;OTTHUMP00000229833;nadph oxidase, ef hand calcium-binding domain 5 APPROVED protein-coding ENSG00000255346 14874 07359 606572 REVIEWED 1317206 NOXO1 NADPH oxidase organizer 1 This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 16 16 p13.3 1968919 1971441 - 2028918 2031550 - 1580863;6480464 14617635;16636067;17189823;17126813;16911517;16329988;15949904;15824103;15489334;15326186;15181005;12716910;12657628;12477932;12473664;20454568;19755710;22342885;15507761;16344560;17963706;18037128;22547655;21188560;23322165 124056 A8K832;H3BN18;Q8NFA2 AB097667;ABBA01030284;AC005606;AF532983;AF532984;AF532985;AF539796;AK292197;AK310198;AK313917;AMYH01007046;AY191359;AY255768;BC015917;CH471112;DB009385;NM_001267721;NM_144603;NM_172167;NM_172168 AAH15917;AAM97925;AAM97926;AAM97927;AAN75141;AAO38665;AAP13479;BAC76711;BAF84886;EAW85581;EAW85582;EAW85583;EAW85584;NP_001254650;NP_653204;NP_751907;NP_751908;Q8NFA2 Hs.191762 1657493 SHGC-60750 MGC20258;P41NOX;P41NOXA;P41NOXB;P41NOXC;SH3PXD5;SNX28 NADPH oxidase organizer 1;NADPH oxidase regulatory protein;Nox organizer 1;OTTHUMP00000158893;OTTHUMP00000158894;OTTHUMP00000158895;SH3 and PX domain-containing protein 5;nox-organizing protein 1;regulatory protein P41NOX APPROVED protein-coding ENSG00000196408 19404 14834 611256 REVIEWED 731542 NOX4 NADPH oxidase 4 This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] 11 11 q14.2-q21 88699160 88864301 - 89057521 89322779 - 1580980;1580863;2324658;2324673;2324659;2324666;2324669;2324670;4762683;6480464 15802177;19686728;16135519;19620512;18438942;18418428;17511984;18952568 15927447;10869423;19574552;19415232;19337723;19280689;19276355;19057021;19036873;18849343;18845355;18593227;18573911;18539955;18508317;18473264;17983808;17940286;17717289;17585072;17553579;17501721;17481637;17472580;17369289;17237347;17200123;16987004;16754784;16563235;16532036;16344560;16324151;16249442;16230378;16179589;16019190;22181007;22713363;22659429;15883163;15721269;15706079;15618545;15572675;15489334;15356101;15322091;15256399;15210697;15155719;15102091;14966267;14702039;14670934;12482831;12477932;11997235;11376945;11032835;8889548;9882350;15509740;22496405;22946340;20925598;20039838;20177149;20427574;20407038;18783311;19061439;19375500;19388821;19409979;19540572;19542021;19657056;19671250;19681754;19701206;19834108;19843513;19995913;20031578;20056178;20163138;20346360;20360249;20375612;20379614;21131394;20396861;19779036;20457132;20457808;19913121;20531308;20628086;20523116;21273445;20708598;20403426;21075166;20715105;23476056;21391892;23514110;23612968;21399967;21443946;21788590;21513813;22095986;22277655;22303451;21915726;21841825;23550626;21907277;21965295;21732365;21901141;21935366;22108207;22326263;22456182;22572850;23251661;23393389;22728268;19941336;21483469;22791246 50507 B3KQ17;B7Z520;C9J897;E7EMD7;E9PI95;E9PMY6;E9PPP2;E9PR43;Q9NPH5 AB041035;ABBA01011518;ABBA01011519;ABBA01011520;ABBA01011521;ABBA01011522;AF254621;AF261943;AJ704725;AJ704726;AJ704727;AJ704728;AJ704729;AK057189;AK291830;AK298323;AK298328;AK298357;AK298376;AK311381;AK311389;AMYH01003870;AMYH01003871;AP001815;AP002404;AP003400;AW207163;AY288918;BC040105;BC051371;BU730205;CH471185;DA970477;NM_001143836;NM_001143837;NM_016931;NR_026571 AAF68973;AAF87572;AAH40105;AAH51371;AAP41109;ADZ15621;BAA95695;BAF84519;BAG51879;BAH12756;BAH12759;BAH12765;BAH12771;CAG28807;CAG28808;CAG28809;CAG28810;CAG28811;EAW59353;EAW59354;EAW59355;NP_001137308;NP_001137309;NP_058627;Q9NPH5 Hs.371036 1339339;1684966;1738117;2108319;5020948;7185407 D11S1326;D11S3741;G35510;NOX4_8033;RH92457 KOX;KOX-1;RENOX NADPH oxidase 4;OTTHUMP00000235654;OTTHUMP00000235655;OTTHUMP00000235656;OTTHUMP00000235657;OTTHUMP00000235658;OTTHUMP00000235659;OTTHUMP00000235660;OTTHUMP00000235661;kidney oxidase-1;kidney superoxide-producing NADPH oxidase;renal NAD(P)H-oxidase APPROVED protein-coding ENSG00000086991 7891 09243 605261 REVIEWED 1320711 NPAS1 neuronal PAS domain protein 1 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008] 19 19 19 q13.2-q13.3 44328506 44352897 + 52215983 52240857 + 47524143 47549017 + 1580863;6480464 9012850;15489334;12477932;9079689;15635607 4861 B4DR69;M0QX32;M0R1R8;M0R2M8;Q99742 AB054002;ABBA01040999;ABBA01041000;AC008755;AK299128;AMYH01009875;BC039016;CH471126;NM_002517;U51628;U77968 AAB47248;AAC51214;AAH39016;BAB21098;BAG61181;EAW57454;NP_002508;Q99742 Hs.79564 MOP5;PASD5;bHLHe11 PAS domain-containing protein 5;basic-helix-loop-helix-PAS protein MOP5;class E basic helix-loop-helix protein 11;member of PAS protein 5;member of PAS superfamily 5;neuronal PAS domain-containing protein 1;neuronal PAS1 APPROVED protein-coding ENSG00000130751 7894 09136 603346 REVIEWED 1323667 NPAT nuclear protein, ataxia-telangiectasia locus 11 11 q22-q23 107533327 107598575 - 108028117 108093365 - 6480464 19277982;19170105;18677100;17974976;17967892;17449237;16344560;15555599;14612403;12887926;12724424;12665581;12477932;12473189;10995386;8923007;8789452;8743993;9472014;9205109;14585971;15988025;17163457;17577209;18850719;19692168;19890848;20190802;19913121;20628086;9199932;21050672;21562039;21693764;21906983;21963094;19471022;22145905;10995387;22288532 4863 E9PKJ1;H0YET3;Q14207 ABBA01039868;AK290020;AK291687;AK301256;AMYH01004021;AP001925;AP002433;BC040356;BC050561;BC094769;BC136270;CH471065;D83243;D89854;DA338219;NM_002519;U58852;U82828;X91196;X97186 AAB02735;AAB65828;AAH40356;AAH50561;AAI36271;BAA11861;BAA21367;BAF82709;BAF84376;BAG62823;CAA62602;CAA65824;EAW67106;EAW67107;NP_002510;Q14207 Hs.171061;Hs.367437 1687071;1787940;1789282;1789284;1789729;2111794;2175845;2190233;2190235;5016478;5020948;7185924 ATM_exon1a;ATM_exon1b1;D11S384;D11S4485;G35510;G67874;G67879;GDB:434012;RH93618;SHGC-171772;WI-10358;csnpatm-pcr1-1 E14;E14/NPAT;p220 E14;OTTHUMP00000232766;nuclear protein of the ATM locus;nuclear protein of the ataxia telangiectasia mutated locus;protein NPAT protein-coding ENSG00000149308 7896 03266 601448 VALIDATED 1316218 NPAS3 neuronal PAS domain protein 3 This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 14 14 q12-q13 32478200 33340702 + 33408459 34273382 + 1580863;6480464 18029348;18521090;18519826;18317462;18195134;15820313;12746393;10534623;20466522;19913121;20628086;12477932;14702039;17008307;18711365;19073416;19073419;19573479;20379614;20713499;21306425;21703424;22228753;22228203;21709683 64067 F8VR32;F8VS42;F8W0C2;H0YHB6;H0YHU7;H0YI42;Q8IXF0 AB054575;AB054576;AB055962;ABBA01061440;ABBA01061441;ABBA01061442;ABBA01061443;ABBA01061444;ABBA01061445;AF164438;AI811363;AK000865;AK002000;AK021667;AL079281;AL109769;AL133305;AL139296;AL157689;AL158802;AL161851;AL355886;AMYH01005647;AMYH01005648;AY157302;AY157303;BC035075;CH471078;NG_013036;NM_001164749;NM_001165893;NM_022123;NM_173159 AAG35180;AAI46318;AAO17043;AAO17044;BAB21221;BAC53754;BAC53756;CAB45154;EAW65930;NP_001158221;NP_001159365;NP_071406;NP_775182;Q8IXF0 Hs.657892;Hs.675437;Hs.675475 1334793;1340348;1342331;1643844;1656715;1658093;1665358;1667725;1669726;1686212;1694848;1705126;1709810;1709812;1713475;1715265;1717251;1719303;1720161;1727835;1747615;1751837;1754915;1755895;1763859;1766345;1796418;1855248;2113870;2119696;2120778;2136379;2144992;2157321;2167800;2180813;2181041;5014051;5037552;5093050 A003N09;A009E43;AB056404;D14S1060;D14S1149;D14S49;D14S626;D14S730;D14S741;D14S757;D14S871;D8S2278;D8S2279;G17792;G31096;G32490;G35881;G35971;G36062;G36320;G44292;G63183;G65514;NPAS3_954;RH119883;RH120221;RH122040;RH123374;RH123991;RH78505;RH92309;SHGC-105840;SHGC-141843;SHGC-142733;SHGC-147523;SHGC-149686;SHGC-79994;SHGC-84722;SHGC-84723;WI-13708 FLJ10003;FLJ11138;FLJ11605;MOP6;PASD6;bHLHe12 OTTHUMP00000178811;OTTHUMP00000178812;OTTHUMP00000243961;OTTHUMP00000243962;OTTHUMP00000243963;OTTHUMP00000243964;PAS domain-containing protein 6;basic-helix-loop-helix-PAS protein MOP6;class E basic helix-loop-helix protein 12;member of PAS protein 6;neuronal PAS domain-containing protein 3;neuronal PAS3 APPROVED protein-coding ENSG00000151322 19311 11400 609430 REVIEWED 1348173 NOXRED1 NADP-dependent oxidoreductase domain containing 1 14 14 14 q24.3 57899001 57927942 - 76942749 76958985 - 77860364 77889399 - 6480464 15489334;14702039;12508121;12477932;16344560;17207965 122945 G3V2D4;Q6NXP6 ABBA01030648;ABBA01030649;ABBA01030650;ABBA01030651;AC007954;AF111168;AK057371;AMYH01005882;BC066965;BI829015;CH471061;DB021944;HC006808;HC044735;NM_001113475 AAD09625;AAF62562;AAH66965;ADQ32961;BAG51909;CBH19210;CBH30697;EAW81285;NP_001106946;Q6NXP6 Hs.97556 1677838 RH98371 C14orf148;FLJ32809 NADP-dependent oxidoreductase domain-containing protein 1;OTTHUMP00000246418;pyrroline-5-carboxylate reductase-like protein C14orf148 APPROVED protein-coding ENSG00000165555 20487 08140 VALIDATED 734007 NPAS4 neuronal PAS domain protein 4 NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008] 11 11 11 q13 63508508 63514210 + 65945051 65950753 + 66188475 66194177 + 6480464 15489334;14702039;14701734;12477932;21926972 266743 B7ZL81;Q8IUM7 AB049469;ABBA01024079;AK094025;AK096253;AMYH01003734;AP001107;BC105001;BC105003;BC143630;CH471076;NM_178864 AAI05002;AAI05004;AAI43631;ABZ92417;BAC04271;BAC04738;BAC19830;EAW74525;NP_849195;Q8IUM7 Hs.256036 1769312;2109589 D11S1052;NXF__6089 Le-PAS;NXF;PASD10;bHLHe79 HLH-PAS transcription factor NXF;OTTHUMP00000234877;PAS domain-containing protein 10;class E basic helix-loop-helix protein 79;neuronal PAS domain-containing protein 4;neuronal PAS4 APPROVED protein-coding ENSG00000174576 18983 12260 608554 VALIDATED 1320157 NPAS2 neuronal PAS domain protein 2 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008] 2 2 q11.2 100803045 100979719 + 101436613 101613287 + 1580863;6480464 9079689;9012850;9576906;18990770;17984998;17457720;17453337;17264841;17096334;16628007;16528748;15489334;14702039;14645221;12655319;12477932;11441147;11439184;10864874;8889548;20211142;19913121;20554694;20628086;18819933;19457610;19470168;19649706;19693801;19839995;19934327;20072116;20095854;20149345;20174623;20180986;20368993;20817722;21140207;21912186;16969126;22137330;22538398 4862 A2I2P5;F5H027;H7BZA3;H7BZY5;H7C080;H7C0J4;H7C0Z2;Q99743 ABBA01073920;ABBA01073921;AC016738;AC092168;AC106891;AK026791;AK091939;AK095806;AK128586;AK226093;AK294733;AMYH01010810;AMYH01010811;AMYH01010812;BC028107;BC035412;BC051351;BC072383;BM724652;BX640699;CH471127;EF015903;NG_023259;NM_002518;U51625;U77970 AAB47250;AAC51211;AAH28107;AAH51351;AAH72383;AAX88966;AAY14822;ABM64214;BAB15554;BAH11862;EAX01830;EAX01831;EAX01832;EAX01833;EAX01834;EAX01835;NP_002509;Q99743 Hs.156832;Hs.705895 1652042;1652658;1653972;1656236;1705288;1708602;1754635;1793090;1854739;2123551;2128053;2131511;2143293;2182931;2184158;5022450;5037552;5124456 D10S275;D8S2279;PMC19579P4;RH16198;RH17865;RH45156;RH71260;RH77872;RH79879;SGC34754;SHGC-132981;SHGC-33168;SHGC-34190;SHGC-36364;SHGC-58283;SHGC-78601;SHGC-85091;WI-17613 FLJ23138;MGC71151;MOP4;PASD4;bHLHe9 OTTHUMP00000161260;PAS domain-containing protein 4;basic-helix-loop-helix-PAS protein MOP4;class E basic helix-loop-helix protein 9;member of PAS protein 4;member of PAS superfamily 4;neuronal PAS domain-containing protein 2;neuronal PAS2 APPROVED protein-coding ENSG00000170485 7895 09137 603347 REVIEWED 1352810 NPCDR1 nasopharyngeal carcinoma, down-regulated 1 3 59932247 59932509 - 246734 Q9BY65 AF134979 13392 1314235 NPBWR1 neuropeptides B/W receptor 1 8 8 8 p22-q21.13 49843313 49844299 + 54015021 54016007 + 53852468 53853454 + 1580863;6480464 7590751;12401809;17437806;15797961;15607941;12719537;12477932;12130646;12118011;18240029;18577758;22545105 2831 H9NIL7;P48145 ABBA01041710;AC087348;AMYH01018717;BC069117;BC107101;CH471068;JQ308172;NM_005285;U22491 AAC50197;AAH69117;AAI07102;AFF59482;EAW86722;NP_005276;P48145 Hs.248117 2132985;5492573 RH71213;UniSTS:481712 GPR7;MGC129755 G protein-coupled receptor 7;G-protein coupled receptor 7;OTTHUMP00000226312;neuropeptide B/W receptor 1;neuropeptides B/W receptor type 1;opioid-somatostatin-like receptor 7 protein-coding 4522 02840 600730 VALIDATED 1349448 NPBWR2 neuropeptides B/W receptor 2 The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor. The encoded protein is similar in sequence to another G protein-coupled receptor (GPR7), and it is structurally similar to opioid and somatostatin receptors. This protein binds neuropeptides B and W. This gene is intronless and is expressed primarily in the frontal cortex of the brain. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 59425680 59426681 - 62207627 62208628 - 62737183 62738184 - 1580863;6480464 7590751;12401809;15797961;12719537;12477932;12130646;11780052;18240029;2834384;17207965;18577758 2832 P48146;Q6NWQ5 ABBA01018567;AL121581;AMYH01012100;BC067481;BC067482;BC067483;CH471077;NM_005286;U22492 AAC50198;AAH67481;AAH67482;AAH67483;ADQ32076;EAW75161;NP_005277;P48146 Hs.248118 1677188;5492575 RH70583;UniSTS:481713 GPR8 G protein-coupled receptor 8;G-protein coupled receptor 8;OTTHUMP00000031647;neuropeptides B/W receptor type 2;opioid-somatostatin-like receptor 8 APPROVED protein-coding 4530 02841 600731 REVIEWED 736156 NPB neuropeptide B Neuropeptide B (NPB) is an endogenous peptide ligand for G protein-coupled receptor-7 (GPR7; MIM 600730).[supplied by OMIM, Apr 2004] 17 17 17 q25.3 76464079 76464788 + 77453446 77453916 + 79860072 79860781 + 6480464 12401809;15489334;12477932;12118011;8889548;18240029;18577758 256933 I3NI19;Q8NG41 AB085942;ABBA01019652;AC145207;AF525737;AF525738;AMYH01008722;BC033173;BC126128;BC126485;BC146875;BC146890;BM978256;CH471099;NM_148896 AAI26129;AAI26486;AAI46876;AAI46891;AAP80794;AAP80795;BAC07175;EAW89704;NP_683694;Q8NG41 Hs.569843;Hs.708916 2220396;5493747 UniSTS:481341;UniSTS:494523 L7;PPL7;PPNPB L7;hPPL7;neuropeptide B;prepro-NPB;preproprotein L7 APPROVED protein-coding ENSG00000183979 30099 16267 607996 VALIDATED 1345181 NPC1L1 NPC1-like 1 The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 p13 44518659 44547439 - 44552134 44580914 - 1580863;1642184;1642185;1642183;6480464 15671032;17292734;17218600 17140581;19265861;19071091;18850127;18783541;18641716;18641187;18522832;18522826;18413323;18403720;18373109;18080173;18031309;17662536;17571164;17102949;17005902;16829661;16518588;16449388;16297596;16098225;15928087;15790807;21525977;15679830;15604518;14976318;12690205;12477932;10783261;22579005;21189420;19325169;19747803;19752398;20379057;20460578;19443194;20144195;20222991;20855565;19823104;19913121;20628086;20679960;20686565;20953676;21187433;19542231;21683156;21602275;22095670;22646906 29881 B7ZLE6;Q9UHC9 AACC02000110;ABBA01058219;AC004938;AF192522;AF192523;AMYH01017211;AY437865;AY515256;AY927603;BC117178;BC143731;BC143756;CH236960;CH471128;FJ481111;NG_013088;NM_001101648;NM_013389 AAF20396;AAF20397;AAI17179;AAI43757;AAR97886;AAS56939;ACL18055;EAL23753;EAW61096;EAW61097;EAW61098;NP_001095118;NP_037521;Q9UHC9 Hs.567486 1650104;1659385;2110603;2179517 D7S2697;NPC1L1_9593;RH46066;SGC38249 NPC11L1 NPC1 (Niemann-Pick disease, type C1, gene)-like 1;Niemann-Pick C1-like protein 1;OTTHUMP00000159465;OTTHUMP00000207702 APPROVED protein-coding ENSG00000015520 7898 09725 608010 REVIEWED 1353089 NPC2 Niemann-Pick disease, type C2 This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008] 14 14 q24.3 74016396 74029837 - 74946643 74960084 - 1601483;6480464;7240710 11567215 17018531;15110773;12719428;18029348;11125141;19252935;18823126;18636124;17895371;17470133;17387528;16772431;16606609;16374838;15937921;15489334;14662784;12591949;12477932;12447927;12398991;12125814;10479477;8924505;8418812;8125298;1693137;19913121;20628086;16141411;16548883;19664597;19723497;20007703;20674861;20650896;19746448;22939629;21084287;22990118;21253586;21811417;21740003;22273177;22183894;20301473;22962690;23000965;22179027;23022198;18772377 10577 B4DQV7;E7EMS2;G3V2V8;G3V3D1;G3V3E8;H0YIZ1;H0YJE2;J3KMY5;P61916 ABBA01030717;AC005479;AK222474;AK298975;AK300879;AK311931;AMYH01005856;BC002532;CH471061;NG_007117;NM_006432;X67698 AAH02532;ABM82833;ABM86019;BAD96194;BAG34872;BAG61069;BAG62522;CAA47928;EAW81176;EAW81177;EAW81178;NP_006423;P61916 Hs.433222 1677971;1754069;2122611;2139216;5014713 G38283;RH65075;RH70872;SHGC-12718;SHGC-132103 EDDM1;HE1;MGC1333;NP-C2 OTTHUMP00000245451;OTTHUMP00000245452;OTTHUMP00000245453;OTTHUMP00000245455;OTTHUMP00000245456;OTTHUMP00000245457;OTTHUMP00000245458;epididymal protein 1;epididymal secretory protein E1;human epididymis-specific protein 1;niemann-Pick disease type C2 protein;tissue-specific secretory protein APPROVED protein-coding ENSG00000119655 14537 03008 601015;607625 REVIEWED 736374 NPFF neuropeptide FF-amide peptide precursor FMFRamide-related protein precursor plays a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. FMRFAL encodes a preproprotein which is cleaved to form two active peptides with similar function. [provided by RefSeq, Jul 2008] 12 12 q13.13 52186741 52187689 - 53900474 53901422 - 1580863;61673;6480464 10220558 9224703;10851242;17854890;17224450;16336216;12609745;12477932;12149260;11587714;11325787;11024015;9786165;8804117;7784266;21120930;16754659;18577758 8620 O15130;Q3SXL4 ABBA01008343;AC023509;AF005271;AF503515;AMYH01004482;BC035758;BC104234;BC104235;CH471054;NM_003717 AAB64288;AAI04235;AAI04236;EAW96721;EAW96722;NP_003708;O15130 Hs.733076 1682852;5493617 RH39878;UniSTS:489753 FMRFAL FMRFamide-related peptides;OTTHUMP00000242318 APPROVED protein-coding ENSG00000139574 7901 06869 604643 REVIEWED 1344630 NPHL1 nephrolithiasis 1 (X-linked) 7240710 8099916 4865 7903 300009;300554;308990;310468 1351737 NPFFR1 neuropeptide FF receptor 1 10 10 10 q21-q22 65294771 65323520 - 71684719 71707727 - 72014713 72043450 - 633416;1580863;6480464 11024015 11025660;22691551;12477932;16385451;20027225;20379614;16754659;22064075;23007406 64106 Q5T6D8;Q9GZQ6 AB040104;AB065729;ABBA01019622;AF268898;AF330055;AL355138;AMYH01002812;BC131580;CH471083;EU432128;NM_022146 AAG41397;AAI31581;AAK94199;ABY87927;BAB17677;BAC05950;EAW54387;NP_071429;Q9GZQ6 Hs.302026 1727113 G62960 FLJ10751;GPR147;NPFF1;NPFF1R1;OT7T022 G-protein coupled receptor 147;OTTHUMP00000019749;RFamide-related peptide receptor OT7T022;neuropeptide FF 1;neuropeptide FF receptor 1 protein-coding ENSG00000148734 17425 12120 607448 VALIDATED 1318462 NPC1 Niemann-Pick disease, type C1 This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] 18 18 q11.2 19365461 19420468 - 21111463 21166581 - 1601483;1580863;6480464;7240710 11567215 9245994;16757520;9927649;12719428;12554680;10821832;19563754;19252935;19206179;19151714;19074461;19029290;19007772;18834923;18636124;18591242;18272928;18272927;18216017;17989072;17662536;17160616;17020879;17008555;16778374;16644737;16174794;16054367;15908696;15774455;15681833;15632139;15596783;15489334;15459971;15347664;15342556;15314240;15069562;12477932;12408188;12401890;12398991;12125814;11907140;11754101;11479732;11349231;11333381;10521297;10521290;10480349;10425213;9990080;9866822;9634529;9559270;9458174;9211850;9211849;8446622;18948618;19965586;20712903;20843981;19746448;20497909;20955564;19913121;20571217;20571754;20628086;16141411;17183645;19474101;19815536;19851340;19878569;20007703;20489167;20301473;20607864;21220512;22939629;21866101;21866103;23382922;22273177;19583955;18774957;22395071;21139048;21890473;21903422;21906983;21987572;22495346;23010472;18772377;22212234;22326530;22437840;21963094;22962690;23142039;22179027;22268729;22607065 4864 B4DET3;K7EIH7;K7ENZ0;K7EQ23;K7ERM4;K7ERW2;O15118 AB209048;ABBA01022632;AC010853;AF002020;AF157379;AF338230;AI242474;AK293779;AK295715;AK308491;AMYH01008887;BC063302;BP217319;CA438246;CH471088;DR159421;NG_012795;NM_000271 AAB63982;AAD48006;AAH63302;AAK25791;BAD92285;BAG57194;BAG58559;EAX01158;NP_000262;O15118 Hs.464779;Hs.715623 2140545;2171440;2183249;5018027 D18S1243;NPC1_s22;RH11988;WI-14881 FLJ98532;NPC Niemann-Pick C1 protein;OTTHUMP00000162699 APPROVED protein-coding ENSG00000141458 7897 09622 257220;607623 REVIEWED 1353727 NPDC1 neural proliferation, differentiation and control, 1 9 9 9 q34.3 110447250 110454093 - 139053743 139060476 - 139933909 139940676 - 1580863;6480464 16189514;15563841;15489334;15229225;14702039;12477932;11245976;11042687;10970871;9181131;8125298;7878019;21987572;21139048;21906983;17577209 56654 Q5SPY9;Q9NQX5 ABBA01022738;AF272357;AF283247;AF285836;AF327349;AK054950;AK074793;AK225091;AL050221;AL807752;AMYH01021887;AMYH01021888;BC004217;CH471090;NM_015392 AAF76225;AAF82603;AAH04217;AAK27328;AAL56010;BAC11212;CAB43321;EAW88335;NP_056207;Q9NQX5 Hs.719906 2142290 WI-15356 CAB;CAB-;CAB-1;CAB1;DKFZp586J0523;NPDC-1 NPDC-1;OTTHUMP00000022636;OTTHUMP00000022637;neural proliferation differentiation and control protein 1 protein-coding ENSG00000107281 7899 12048 605798 VALIDATED 1322762 NPEPL1 aminopeptidase-like 1 20 20 20 q13.32 54008342 54031376 + 56701268 56724307 + 57264187 57290900 + 1580863;6480464 15489334;14702039;12477932;11853319;11780052;8125298;15342556 79716 H0YEP3;Q8TF28 AB075854;ABBA01005970;ABBA01005971;ABBA01005972;ABBA01005973;AK021645;AK124479;AK126390;AK223094;AK297667;AK307771;AK315684;AL139349;AL833971;AMYH01012021;AMYH01012022;BC020507;BM544905;BP232534;CH471077;NM_001204872;NM_001204873;NM_024663 AAH20507;ABM82551;ABM85742;ABM87826;BAB13861;BAB85560;BAD96814;BAG38049;BAG60029;CAD38816;EAW75474;EAW75475;EAW75476;EAW75477;EAW75478;EAW75479;EAW75480;NP_001191801;NP_001191802;NP_078939;Q8NDH3 Hs.654868 1689093;1706880 RH91972;SHGC-80926 FLJ11583;FLJ42065;bA261P9.2 OTTHUMP00000206100;OTTHUMP00000235827;OTTHUMP00000235828;probable aminopeptidase NPEPL1 protein-coding ENSG00000215440 16244 07496 VALIDATED 732787 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] 19 19 q13.1 41008697 41034579 - 36316274 36342895 - 737766;737765;1580863;6480464;7240710 11317351;12039968 16525419;9660941;19470472;19406966;19179337;19077682;18614772;18562307;18503012;18480178;18449463;18258597;18212058;17923684;17413422;17395751;17371932;17290294;17255128;17211152;16968782;16968734;16644649;16543952;16288986;16010520;15942677;15780077;15659563;15634346;15545998;15504938;15339792;15331416;15167446;15149332;15086927;14747939;14736962;14633607;12961083;12920248;12865409;12853730;12846735;12668668;12663475;12660326;12631336;12495287;12436341;12407641;12368218;12324903;11961028;11854170;11733557;11692461;11692176;11562357;11241530;10997929;10652016;10577936;10550324;10393930;19520069;22653594;22718751;9915943;20457601;20172850;20650908;20576809;20138859;19913121;20628086;19321760;19443487;19587356;19671286;19746264;19812541;19816048;19833886;20237496;20424473;20507940;21125408;20419132;22584503;21321125;19528353;21478284;21803771;17464107;22009864;15174051;22176966;22194892;22615747;22565185;23188823;17301560;21980157;22747997 4868 O60500 ABBA01018770;ABBA01018771;AC002133;AF035835;AF126957;AF190637;AK310731;AMYH01009735;BX103667;EU642886;EU642887;NG_013356;NM_004646;U95090 AAB80768;AAC39687;AAF36451;AAG17141;AAI56196;AAI56936;ACH99862;NP_004637;O60500 Hs.122186 2219194;5022578 D1S1423;NPHS1__6069 CNF;NPHN;nephrin nephrin;renal glomerulus-specific cell adhesion receptor APPROVED protein-coding ENSG00000161270 7908 04094 256300;602716 REVIEWED 733261 NPFFR2 neuropeptide FF receptor 2 This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009] 4 4 q21 73116385 73232642 + 72897521 73013918 + 6480464 10851242;10079187;18565622;17503329;17157836;16488513;16336216;15608144;15146197;15127947;12609745;12606605;12477932;11024015;10837915;20600636;19944730;18029348;16754659;21818152;22375000 10886 A0PJM9;Q9Y5X5 ABBA01022977;ABBA01022978;ABBA01022979;ABBA01022980;AC106051;AC106898;AF119815;AF236083;AF257210;AF268899;AF330053;AJ311393;AK290937;AK308069;AMYH01014292;AMYH01014293;BC101636;BC113713;CH471057;CN285250;NM_001144756;NM_004885;NM_053036 AAD22047;AAF87078;AAG41398;AAI01637;AAI13714;AAK58513;AAK94197;BAF83626;CAC85427;EAX05647;EAX05648;EAX05649;EAX05650;NP_001138228;NP_004876;NP_444264;Q9Y5X5 Hs.99231 1659255;1775313;1777205;1797652;2124569;5037552 D4S3201;D8S2279;G33309;GPR74_2132;SHGC-50585;SHGC-51038 GPR74;HLWAR77;NPFF2;NPGPR G protein-coupled receptor 74;G-protein coupled receptor 74;G-protein coupled receptor HLWAR77;OTTHUMP00000160367;OTTHUMP00000160368;OTTHUMP00000160369;neuropeptide FF 2;neuropeptide FF receptor 2;neuropeptide G-protein coupled receptor APPROVED protein-coding ENSG00000056291 4525 16244 607449 REVIEWED 1354170 NPEPPS aminopeptidase puromycin sensitive This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008] 17 17 q21 42963603 43055634 + 45608444 45700642 + 1580863;6480464 21320871;10329370;17353931;9048733;15489334;14706550;14702039;12477932;11435692;10582526;10037494;8889548;8082751;7592939;3171591;21145461;21319273;20562859;19494703;19615732;20377816;20829225;22863883;22939629;22990118;21875946;20473970;18781797;21081666;21139048;21890473;21906983;22586326;22944692 9520 B7Z463;E9PI82;E9PJ74;E9PJF9;E9PJY4;E9PLK3;E9PP11;E9PPD4;E9PPZ2;E9PRQ5;H0YCQ5;H0YDG0;P55786 AA864462;ABBA01041132;ABBA01041133;ABBA01041134;ABBA01041135;ABBA01041136;ABBA01041137;AC025682;AC183084;AF252387;AJ132583;AK095877;AK096491;AK096709;AK293450;AK293995;AK296887;AK297107;AK303037;AK311414;AMYH01008449;AMYH01008450;BC065294;BM723238;CH471109;DB476543;NM_006310 AAF70086;AAH65294;BAG53154;BAG53355;BAH11510;BAH11645;BAH12449;BAH12498;BAH13885;CAA10709;EAW94811;EAW94812;EAW94813;NP_006301;P55786 Hs.740414 1687461;1729079;1739565;1748801;2115814;2166332;2181370;5016478;5020274;5092730;5100458;5126233 A005V04;D17S1720;D17S626;G32293;GDB:434012;L18441;Psa;RH46221;RH48280;RH80425;SGC44582;SHGC-110413 AAP-S;MP100;PSA OTTHUMP00000229852;OTTHUMP00000229855;cytosol alanyl aminopeptidase;metalloproteinase MP100;puromycin-sensitive aminopeptidase APPROVED protein-coding ENSG00000141279 7900 07366 606793 REVIEWED 7246584 NPIPA2 nuclear pore complex interacting protein family, member A2 18055785 642799 O15103;Q9UND3 AC136443;NM_001277324;XM_003118695;XM_003118696;XM_003118697 NP_001264253;XP_003118743;XP_003118744;XP_003118745 Hs.712875 nuclear pore complex-interacting protein-like 1-like protein-coding ENSG00000254852 41979 VALIDATED 7246367 NPIPA3 nuclear pore complex interacting protein family, member A3 18055785 642778 F8WFD2;O15103;Q9UND3 AC009167;AC136443;AMYH01007181;NM_001277323;XM_003118692;XM_003118693;XM_003118694;XM_003960605;XM_003960606;XM_003960607 NP_001264252;XP_003118740;XP_003118741;XP_003118742;XP_003960654;XP_003960655;XP_003960656 Hs.144442 nuclear pore complex-interacting protein-like 1-like protein-coding ENSG00000224712 41978 VALIDATED 2300994 NPHP3-AS1 NPHP3 antisense RNA 1 3 3 3 q22.1 130866673 131018542 + 133923876 134075743 + 132441186 132593050 + 12477932;21139048;21906983 348808 ABBA01059177;ABBA01059178;AC018916;AC055732;AC079942;AMYH01013502;AMYH01013503;AMYH01013504;AMYH01013505;BC036463;BC039375;BC048124;NR_002811 Hs.586111 1707022;1714847;1766897;2124597 D3S4549;RH120418;SHGC-152347;SHGC-81018 NCRNA00119 APPROVED miscrna ENSG00000248724 24129 PREDICTED 7246247 NPIPA7 nuclear pore complex interacting protein family, member A7 101059938 AC136619;AC138969;AMYH01007183;XM_003959946;XM_003960618 XP_003959995;XP_003960667 protein-coding ENSG00000214967 41982 MODEL 7246600 NPIPA8 nuclear pore complex interacting protein family, member A8 11586358 101059953 ABBA01012608;AC126755;XM_003959947;XM_003960884 XP_003959996;XP_003960933 LCR16a9 morpheus gene family member 9 protein-coding 41983 MODEL 7246636 NPIPA5 nuclear pore complex interacting protein family, member A5 16712791;17207965;18055785 100288332 E9PKD4;Q0P618 AC137803;AMYH01007182;CB123100;EL734608;NM_001277325;XM_003118698;XM_003118701;XM_003118702;XM_003960601;XM_003960602;XM_003960603 NP_001264254;XP_003118746;XP_003118749;XP_003118750;XP_003960650;XP_003960651;XP_003960652 Hs.513373;Hs.676266;Hs.720303 NPIP-like protein 1-like protein-coding ENSG00000183793 41980 VALIDATED 7246504 NPIPB11 nuclear pore complex interacting protein family, member B11 728888 AC025279;AMYH01007494;XM_002343430;XM_003118710;XM_003959948;XM_003960634;XM_003960635;XM_003960636 XP_002343471;XP_003118758;XP_003959997;XP_003960683;XP_003960684;XP_003960685 protein-coding ENSG00000254206 37453 MODEL 1602024 NPIPB15 nuclear pore complex interacting protein family, member B15 16 16 q23.1 72969373 72983514 + 74411037 74426013 + 6480464 10493829 440348 A6NHN6 AC002544;AC009053;XM_003118720 A6NHN6;AAC27428;AAI60029;XP_003118768 5110981;5113740 RH42003;SHGC-32146 A-761H5.4 OTTHUMP00000211015;OTTHUMP00000222828;nuclear pore complex-interacting protein-like 2 APPROVED protein-coding 34409 18636 MODEL 1317734 NPHP1 nephronophthisis 1 (juvenile) This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q13 110237177 110319883 - 110880913 110962639 - 1580863;6480464;7240710;7246900;7246902;7246904;7246903 22982934;21258817;16762963;17409309 12244321;12006559;9361039;12205563;10665934;18512082;18477472;18054307;17855640;17513324;16900087;16885411;16782989;16724659;16713569;16308564;15661758;15489334;15138899;12872123;12872122;12477932;11493697;10839884;10739664;10712196;9856524;9587065;9326933;8852662;8125298;7806215;16374509;18633336;19718658;20424473;17207965;20981449;21068128;20856870;21357692;22745667;21906983;20301500;21309750;16964398;22863007;22701722;22743096 4867 C9J082;C9JNM7;H7C014;H7C2K4;O15259 ABBA01015964;ABBA01015965;ABBA01015966;AC013268;AC092664;AC140479;AF023674;AI433852;AJ001815;AK225600;AK299011;AK307654;AMYH01010915;BC009789;BC032939;BC062574;BX571745;CH878608;DB454094;NG_008287;NM_000272;NM_001128178;NM_001128179;NM_207181 AAC51771;AAH62574;ADQ32422;BAG61092;CAA05030;CAE11870;EAW50631;EAW50632;EAW50633;EAW50634;EAW50635;EAW50636;EAW50637;NP_000263;NP_001121650;NP_001121651;NP_997064;O15259 Hs.280388 1667693;1688941;1744313;5022578 D1S1423;GDB:451658;RH47050;WI-22078 FLJ97602;JBTS4;NPH1;SLSN1 OTTHUMP00000161840;OTTHUMP00000161841;OTTHUMP00000207141;OTTHUMP00000207142;OTTHUMP00000225199;juvenile nephronophthisis 1 protein;nephrocystin 1;nephrocystin-1 APPROVED protein-coding ENSG00000144061 7905 02019;09524 256100;266900;607100;609583 REVIEWED 1342817 NPHP3 nephronophthisis 3 (adolescent) This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011] 3 3 q22.1 133882144 133923966 - 132399453 132441303 - 1580863;6480464;7240710 12872122;18029348;19303681;19177160;18371931;17855640;15489334;15381417;14702039;12477932;12056414;11752023;11134256;10631142;21102462;21068128;16344560;20007846;22863007;23275563 27031 F2Z3A8;H0YAM4;Q8NCM5 AB056657;ABBA01059178;ABBA01059179;ABBA01059180;AC055732;AI200954;AK055253;AK055893;AK092910;AK093012;AK094015;AL832863;AL832877;AMYH01013502;AY257864;AY257865;AY257866;BC063277;BC068082;BC131729;CH471052;CR749498;DB114822;EB387619;NG_008130;NM_153240 AAH68082;AAI72279;AAP83423;AAP83424;AAP83425;BAB70891;BAB71038;BAC04018;BAC04268;CAH18321;CAI46200;CAI46202;EAW79187;NP_694972;Q7Z494 Hs.511991 5015861;5037552;7185938 D10S16;D8S2279 DKFZp667K242;DKFZp781K1312;FLJ30691;FLJ36696;KIAA2000;MGC78666;MKS7;NPH3;RHPD Meckel syndrome, type 7;OTTHUMP00000216295;nephrocystin 3;nephrocystin-3 APPROVED protein-coding ENSG00000113971 7907 06417 208540;267010;604387;608002 REVIEWED 1351118 NPHP4 nephronophthisis 4 This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. [provided by RefSeq, Feb 2010] 1 1 p36 5845457 5975118 - 5922870 6052533 - 1580863;6480464;7240710 12244321;12006559;12205563;17954299;17855640;17672918;16339905;15776426;15661758;14702039;12477932;11920287;9734811;22654112;21555462;20844548;21068128;16131712;18076122;19118152;19260139;19305408;19755384;20379614;8889548;21357692;22863007;21906983;22550138;22505724;23006423 261734 D6RA06;H0YA08;O75161;Q8IWC0 AB014573;ABBA01035430;ABBA01035431;ABBA01035432;ABBA01035433;AF537130;AK124074;AK127333;AK128182;AK314326;AL035406;AL117405;AL356261;AL356693;AMYH01000206;AMYH01000207;AMYH01000208;AY118228;BC015402;BC028627;BC040520;BC050076;BU621804;BU738621;CH471130;NG_011724;NM_015102 AAH40520;AAM78558;AAN06814;BAA31648;BAC86935;BAG53998;CAB55906;EAW71507;EAW71508;EAW71509;EAW71510;EAW71511;NP_055917;O75161 Hs.462348 1341964;1673930;1724069;1732914;1771585;1778772 D1S1323;D1S1824E;D1S253;D1S3371;DXS7419;RH119046 FLJ46306;KIAA0673;POC10;SLSN4 OTTHUMP00000000745;OTTHUMP00000221425;POC10 centriolar protein homolog;nephrocystin 4;nephrocystin-4;nephroretinin APPROVED protein-coding ENSG00000131697 19104 06238 606966;606996;607215 REVIEWED 1343791 NPIPA1 nuclear pore complex interacting protein family, member A1 16 16 p13.11 14938801 14953432 + 15031300 15045931 + 6480464 12477932;11586358;10493829;1158635;18055785 9284 F8WB45;H0YH09;Q9UND3 AC002045;AC138932;AF132984;AK160377;AK294177;AMYH01007182;BE253379;CH471092;NM_006985 AAC05437;AAC05438;AAD34394;AAI46423;BAD18720;BAG57496;EAW83295;EAW83296;NP_008916;Q9UND3 Hs.676266 5024282;5117220 GDB:451833;RH70738 FLJ42525;FLJ44848;morpheus OTTHUMP00000115824;nuclear pore complex-interacting protein APPROVED protein-coding ENSG00000183426 7909 12101 606406 VALIDATED 7246139 NPIPB4 nuclear pore complex interacting protein family, member B4 10493829;9039502 440345 AC003007;AC092375;AK303607;AMYH01007355;XM_003403461;XM_003960629 AAC31671;BAH13994;XP_003403509;XP_003960678 Hs.611072 61E3.4 nuclear pore complex interacting protein-like protein-coding 41985 MODEL 7246282 NPIPB8 nuclear pore complex interacting protein family, member B8 728734 AC020765;AC145285;XM_001132754 XP_001132754 protein-coding 37490 MODEL 736986 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] 1 1 q25.2 177786299 177811691 - 179519674 179545084 - 1580863;6480464;7240710 17218332;17216259;17211152;17175312;16968734;16898497;16572591;16481888;16439601;15954915;15942677;15817495;15780077;15769810;15659563;15496146;15489334;15327385;15322893;15253708;15167446;14871423;14675423;14570703;12961083;12707396;12687458;12649741;12617336;12477932;12464671;12368218;12089392;11908478;11854170;11805166;11733557;11729243;11562357;11241850;10802674;12424224;10742096;19406966;19395786;19371226;19145239;18823551;18726620;18543005;18519826;18499321;18334793;18216321;18208440;18058136;18000687;17968527;17942957;17934764;17899208;17699384;17635752;17393177;17371932;8589695;22578956;19913121;20628086;19520069;19536175;19562271;19674119;20001346;20025681;20442690;20507940;20457601;19099831;20947785;21171529;21125408;21478284;17675666;21655212;21499232;22120861;23436459;11786407;22228437;22321327;22080622;22565185 7827 Q9NP85 ABBA01027812;AJ279246;AJ279254;AL160286;AMYH01001532;BC029141;BX095913;CH471067;NG_007535;NM_014625 AAH29141;CAB83216;CAB83272;EAW91049;EAW91050;NP_055440;Q9NP85 Hs.412710 1682958;1792454;1792456;1792458;1792460;1792462;1847089;2219196 D1S1640;NPHS2__6070;PMC151634P1;PMC151634P2;PMC151634P3;PMC151634P4;PMC151634P5;RH92018 PDCN;SRN1 OTTHUMP00000033186;OTTHUMP00000033187;podocin APPROVED protein-coding ENSG00000116218 13394 05303 600995;604766 REVIEWED 7246486 NPIPB9 nuclear pore complex interacting protein family, member B9 100507607 AC145285;XM_003118719 XP_003118767 protein-coding 41987 MODEL 6480970 NPIPP1 nuclear pore complex interacting protein pseudogene 1 16 15198155 15217355 - 100874381 F5GXP2;F8WBI2;H7C5W1 AC139256;AMYH01007182;NG_032198 pseudo 35407 INFERRED 7246814 NPIPB6 nuclear pore complex interacting protein family, member B6 12477932 728741 AC138894;AC138904;AC145285;AMYH01007410;AMYH01007411;AMYH01007412;AMYH01007413;BC144439;BC157836;XM_003118718;XM_003960654 AAI57837;XP_003118766;XP_003960703 Hs.726467 protein-coding ENSG00000198156 37454 MODEL 1604418 NPIPB7 nuclear pore complex interacting protein family, member B7 16 16 p11.2 28376193 28389260 - 28468141 28482617 - 6480464 10493829;12477932 440350 E7ERT9;O75200 AC138894;AMYH01007433;NG_023370 AAI56859;O75200 A-575C2.4;A-761H5.5 nuclear pore complex interacting protein-like 1;nuclear pore complex-interacting protein-like 1 APPROVED pseudo 33832 18637 INFERRED 1345415 NPM1P1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 18 18 18 q12.3 36177456 36177945 - 37622869 37623358 - 39368871 39369360 - 8471164 4870 ABBA01022371;AC011712;AMYH01008959;L15315;NG_001162 NG1-1.6;NPMP1 pseudo 7911 VALIDATED 1350397 NPM1P10 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 10 6 6 q16.3 105093216 105095147 - 104472802 104474734 - 10837 ABBA01014426;AL021330;AMYH01016552;NG_009882 pseudo 7912 INFERRED 1353809 NPM1P11 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 11 7 7 p21.3 11271791 11273056 - 11297002 11298267 - 10836 AACC02000009;ABBA01056560;AC004538;AMYH01017074;CH236948;NG_022930 pseudo 7913 INFERRED 1345257 NPM1P12 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 12 7 7 7 q35 143700207 143701463 + 148661842 148663302 + 149031005 149032261 + 10835 AACC02000041;ABBA01033629;AC004941;AMYH01018119;NG_000887 1729065 Npm1-rs pseudo 7914 INFERRED 1349766 NPM1P13 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 7 7 7 p21.3 18967855 18969126 - 18954653 18956103 - 18988214 18989485 - 12853948 10834 AACC02000007;ABBA01056653;AC004994;AMYH01017097;CH236948;NG_000886;NG_023250 pseudo 7915 INFERRED 7246166 NPIPB5 nuclear pore complex interacting protein family, member B5 11948212;12477932;8889548 100132247 A8MRT5;B4E0Y1 ABBA01006896;AC106788;AK293635;AK296301;AK296338;AK303264;AK303572;AK316332;AL049250;AMYH01007348;BM672679;DC309028;NM_001135865 BAG57091;BAG59001;BAG59025;BAG64346;BAG64593;BAH14703;NP_001129337 Hs.611072;Hs.632865;Hs.720286 nuclear pore complex interacting protein family member;nuclear pore complex interacting protein related protein-coding ENSG00000243716 37233 VALIDATED 1351696 NPM1P14 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 7 7 7 q31.1 106972416 106974003 + 111947587 111949380 + 112160451 112162038 + 12853948 10833 AACC02000001;ABBA01057846;AC005192;AMYH01017861;CH236947;NG_000885 pseudo 7916 INFERRED 1353642 NPM1P15 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 15 10832 AC005569 7917 1346507 NPM1P16 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 16 12 12 p 15009298 15010559 + 9847883 9849144 + 10831 AC007068;NG_009459 pseudo 7918 1345083 NPM1P17 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17 3 3 3 q22.3 135867199 135868112 + 138925187 138926100 + 137442497 137443410 + 10830 ABBA01059100;AC007159;AF164688;AMYH01013531;NG_001233 pseudo 7919 INFERRED 1346879 NPM1P18 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 7 7 7 p14.2 36842890 36844043 + 36824978 36826162 + 36858468 36859621 + 10829 AACC02000036;ABBA01056911;AC007349;AF164689;AMYH01017181;CH236951;NG_001232 pseudo 7920 INFERRED 1348866 NPM1P19 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 20 20 20 q12 34317029 34317829 - 37039476 37040582 - 37606357 37607157 - 10828 ABBA01052535;AF164690;AL023803;AMYH01011907;NG_001231 1771295 GDB:314027 pseudo 7921 INFERRED 1346945 NPM1P2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 18 18 q11.2 20595682 20597445 + 23784744 23786507 + 8471164;2157848 4871 ABBA01022582;AC016839;AMYH01008900;NG_009868;X54171 NG2-6;NPMP2 pseudo 7922 INFERRED 1349461 NPM1P20 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 14 14 14 q32.31 82363605 82364974 - 101378752 101380321 - 102309098 102310467 - 326608 ABBA01048504;AL137779;AMYH01006027;NG_002597 1722089;1773123 G60086;WI-16879 pseudo 20140 INFERRED 7246856 NPIPB1P nuclear pore complex interacting protein family, member B1, pseudogene 12477932;14702039;15489334;15616553;16177791;9039502 729602 A6NHP6 ABBA01073995;ABBA01073996;AMYH01008817;AP001120;NG_023368 A6NHP6 pseudo 37452 INFERRED 7174906 NPM1P23 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 23 3 24138108 24138851 - 100422256 ABBA01025032;AC098971;AMYH01013030;NG_025558 pseudo 44513 INFERRED 5129247 NPM1P22 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 22 13 13 13 q21.32 49308309 49309476 - 67304009 67304879 - 68405808 68406975 - 390411 ABBA01050293;AL353580;AMYH01005190;NG_011393 pseudo 39679 INFERRED 7241103 NPM1P24 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 24 10 74677197 74678388 - 100422312 ABBA01020345;AC069548;AMYH01002824;NG_025446 APPROVED pseudo 45097 INFERRED 7241632 NPM1P25 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 25 399804 ABBA01021831;AC021037;AMYH01002970;NG_022156 pseudo 45204 INFERRED 7241606 NPM1P28 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 28 646849 ABBA01058968;AC112507;AMYH01013565;NG_022222 pseudo 45207 INFERRED 1351103 NPM1P3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3 16 16 16 p13.3 5625349 5626661 + 5355695 5357007 + 5415697 5417009 + 8471164 4872 ABBA01026807;AC005569;AC074051;AMYH01007114;L15316;NG_001163 NG2-6;NG3-3;NPM1P15;NPMP3 pseudo 7923 INFERRED 2305457 NPM1P21 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 21 8 8 8 q12.1 53004254 53005671 - 57176257 57177380 - 57013503 57014920 - 100129237 ABBA01041762;AC107376;AMYH01018734;NG_011601 pseudo 13855 INFERRED 7241774 NPM1P32 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 32 440902 ABBA01032248;AC018737;AMYH01010998;NG_021520 pseudo 45211 INFERRED 7241729 NPM1P36 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 36 652423 ABBA01050502;AL589796;AMYH01016366;NG_022300 pseudo 45215 INFERRED 7241619 NPM1P39 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 39 440577 ABBA01034960;AL590640;AMYH01000422;NG_022773 pseudo 45218 INFERRED 7241730 NPM1P42 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 42 729686 ABBA01038720;AC103874;AMYH01006772;NG_022113 pseudo 45221 INFERRED 7241633 NPM1P46 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 46 729342 ABBA01062473;AC010746;AMYH01011388;NG_021545 pseudo 45225 INFERRED 7241775 NPM1P48 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 48 442006 ABBA01006089;AC019102;AMYH01010077;NG_021491 pseudo 45227 INFERRED 1344626 NPM1P5 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 5 15 15 15 q26.1 69240822 69242326 + 90629871 90630889 + 92828960 92830464 + 8471164 4874 ABBA01053090;AC116903;AMYH01006929;L15318;NG_001165 NG5-4;NPMP5 pseudo ENSG00000258925 7925 INFERRED 1346390 NPM1P6 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 8 8 8 q12.2 58104671 58105964 + 62277474 62278314 + 62114814 62116104 + 8471164 4875 ABBA01041823;AC105015;AMYH01018759;L15319;NG_001166 NG6-4;NPMP6 pseudo 7926 INFERRED 1349973 NPM1P7 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7 p13.31 8471164 4876 AC007068;L15320;NG_001167 1664873;1698334;1771295 GDB:314027;RH102708;STS-R00578 NG7-6;NPMP7 pseudo 7927 1351779 NPM1P8 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 X X p21.1 32133943 32134981 + 32224022 32224852 + 100130233;10359 ABBA01073140;AC096506;AMYH01022200;NG_012232;NG_022651 1729764 DXS1238 pseudo 7928 INFERRED 1347718 NPM1P9 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 9 X X X p22.2 18967664 18968923 - 14762187 14763469 + 14852280 14853539 - 392428 ABBA01071236;ABBA01071237;AF164687;AMYH01022102;NG_005106;U70984 pseudo 7929 INFERRED 2306329 NPIPB3 nuclear pore complex interacting protein family, member B3 16 16 p12.2 21320951 21344159 - 21413455 21436658 - 6480464 15616553;15489334;12477932;11948212;9039502;8889548 23117 B4DG78;C9IYD2;C9JGN3;C9K082;E9PR77;F5H3W2;F5H4N5;Q92617 AA579987;AB209632;AC008740;AK128772;AK294452;AK295170;AK300277;AK303166;AK303500;AK304162;AK308629;AK316459;AMYH01007380;AY498718;BC036263;BC061522;BC073943;BC094882;BM557638;BM710413;BQ721066;BQ950195;DC342292;NM_130464 A8MRT5;AAH36263;AAH61522;AAH73943;AAH94882;AAS48701;BAC87606;BAD92869;BAG57689;BAG58180;BAG62037;BAG64266;BAG64533;BAG65049;BAH14830;NP_569731;Q92617 Hs.611072;Hs.632865;Hs.656872;Hs.720286 5117220 GDB:451833 FLJ17456;FLJ45371;FLJ54505;FLJ58661;FLJ79358;FLJ98670;KIAA0220;KIAA0220L;MGC105000;MGC70907 KIAA0220-like protein;OTTHUMP00000239118;OTTHUMP00000239119;PI-3-kinase-related kinase SMG-1 isoform 1 homolog;nuclear pore complex-interacting protein-like 3;protein pps22-1;putative NPIP-like protein KIAA0220-like APPROVED protein-coding 28989 PROVISIONAL 1353129 NPM1P4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 13 13 13 q12.2 9344922 9346148 - 27168527 27169246 - 28270210 28271439 - 8471164 100128903 ABBA01035743;AL136439;AMYH01004992;L15317;NG_011457 NG4-5;NPMP4 pseudo 7924 INFERRED 1348386 NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q25 155872543 155909737 + 181028017 181065211 + 182758584 182799519 + 1580863;6480464;6907045 19057931;16710414;16147865;15489334;12477932;11737202;11318611;12453637;21832049 80896 C9J576;Q9BXD5 ABBA01027761;AF338436;AI249145;AK297017;AK301068;AK313225;AL355999;AL513344;AL525867;AMYH01001549;AY336748;BC034966;BC042003;BC058003;BC125051;CB961482;CH471067;NM_001200050;NM_001200051;NM_001200052;NM_001200056;NM_030769 AAH58003;AAI25052;AAK25795;AAQ82432;BAG36036;BAG59549;BAG62675;EAW91132;EAW91133;EAW91134;EAW91135;NP_001186979;NP_001186980;NP_001186981;NP_001186985;NP_110396;Q9BXD5 Hs.496969;Hs.731792 1693706;1846625;2106547;2164782;2164784;5024543 A006A04;D1S3690;G20642;NPL__6071;SHGC-58621;SHGC-76016 C1orf13;DHDPS1;MGC149582;MGC61869;NAL;NPL1 N-acetylneuraminate lyase;N-acetylneuraminate pyruvate-lyase;N-acetylneuraminic acid aldolase;NALase;OTTHUMP00000033259;OTTHUMP00000033260;dihydrodipicolinate synthase;dihydrodipicolinate synthetase homolog 1;sialate lyase;sialate-pyruvate lyase;sialic acid aldolase;sialic acid lyase APPROVED protein-coding ENSG00000135838 16781 14836 611412 REVIEWED 2946882 NPPA-AS1 NPPA antisense RNA 1 1 p36.21 11900376 11907673 + 19671135;21273288 100379251 ABBA01003060;AL021155;AMYH01000258;BQ776822;CA773133;FJ706070;FJ706071;FJ706072;FJ706073;FJ706074;FJ706075;FJ706076;FJ706077;FJ706078;FJ706079;NR_037806 Hs.710015 NPPA-AS;NPPAAS APPROVED miscrna 37635 PROVISIONAL 735438 NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) 17 17 17 qter 76168272 76249182 - 77134357 77214543 - 79523913 79604138 - 6480464;6907045 16751776;11574150;18586029;17331469;15489334;14702039;12665801;12477932;10819331;10811609;15371428;16234241;12644454;19322201;20414249;21636303;20876349;22232657;21914798;17872946;19615732;20463881;20702414;16322459;22863883;22939629;21486945;16196087;18775313;18781797;19818707;20639865;21139048;21890473;21906983;21987572;23293021;20442859;22337587;22505724;22797925;23042607 55666 B4DG89;I3L0W3;I3L281;I3L283;I3L3I1;I3L4S2;I3L4U9;K7EJN1;Q8TAT6 AB040932;ABBA01032154;ABBA01032155;ABBA01032156;AC137896;AC139149;AC139530;AK000664;AK023046;AK023272;AK074322;AK294473;AK311741;AL133629;AL834300;AMYH01008717;AMYH01008718;BC013406;BC025930;CH471099;DC322260;DQ587272;DQ587568;NM_017921 AAH25930;ABM86282;BAA91314;BAA96023;BAB14372;BAB14499;BAG57700;CAD38971;EAW89661;EAW89662;EAW89663;NP_060391;Q8TAT6 Hs.464333 1644662;1680831;1783508;1783598;1847657;2168394;5015861;5016596;5109797;7185938 D10S16;D17S1511E;GDB:631802;RH46882;RH79771;SHGC-148718;SHGC-156246;SHGC-58033;STS-N27028 FLJ20657;FLJ23742;KIAA1499;NPL4 homolog of yeast nuclear protein localization 4;nuclear protein localization protein 4 homolog protein-coding ENSG00000182446 18261 06975 606590 VALIDATED 1604498 NPNT nephronectin 4 4 4 q24 104115729 104192091 + 107036054 107112277 + 106816597 106892828 + 6480464 11470814;15754038;12975309;11470831;8889548;12477932;19844573;20010835;20332099;23284291;22172726 255743 D6RE63;D6RH31;E9PCK8;H0Y8M1;H0YA60;H0YAK9 ABBA01063737;ABBA01063738;ABBA01063739;AC093782;AC109361;AK172856;AK290029;AK295772;AK302477;AK304279;AK304721;AL832465;AMYH01014444;AW607534;AY358336;BC131587;BM970581;CD109759;CH471057;NM_001033047;NM_001184690;NM_001184691;NM_001184692;NM_001184693 AAI66654;AAQ88702;BAF82718;BAG58596;BAG63765;BAG65139;BAG65484;EAX06194;EAX06195;EAX06196;EAX06197;NP_001028219;NP_001171619;NP_001171620;NP_001171621;NP_001171622;Q6UXI9 Hs.518921 1650134;1650136;1663644;1706522 A006E27;G20746;SHGC-81233;STS-N22230 EGFL6L;POEM OTTHUMP00000219846;OTTHUMP00000219847;OTTHUMP00000219848;OTTHUMP00000219849;OTTHUMP00000219850;OTTHUMP00000219851;OTTHUMP00000219852;OTTHUMP00000219903;nephronectin;preosteoblast EGF-like repeat protein with MAM domain;protein EGFL6-like protein-coding ENSG00000168743 27405 14141 610306 VALIDATED 737293 NPM2 nucleophosmin/nucleoplasmin 2 8 8 8 p21.3 20844417 20856471 + 21938300 21950354 + 21882354 21894408 + 1299559;6480464 12714744 12581654;14702039;12477932;12209603;19491193;20508983;21863821;22362753;18029348;22968912;23251661 10361 E5RFQ8;E5RGN1;Q6NVH6;Q86SE8 ABBA01005498;AC091171;AK094267;AMYH01018562;AY262113;AY262114;BC068078;CH471080;NM_182795 AAH68078;AAP33134;AAP33135;BAG52852;EAW63730;EAW63731;EAW63732;NP_877724;Q86SE8 Hs.131055 MGC78655 OTTHUMP00000161773;OTTHUMP00000224724;OTTHUMP00000224726;OTTHUMP00000224728;OTTHUMP00000224729;nucleoplasmin-2 protein-coding ENSG00000158806 7930 12160 608073 VALIDATED 1349032 NPM3 nucleophosmin/nucleoplasmin 3 The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008] 10 10 10 q24.31 97279823 97281911 - 103531072 103533148 - 103541082 103543170 - 1580863;6480464 17081983;16341674;15635413;15489334;12477932;11790298;11722795;10736259;9177783;16169070;19710011;20073534;17207965;22863883;22990118;22939629;21900206;19471022;21139048;21693764;22362753;22968912;22190034 10360 O75607 ABBA01063188;AC010789;AF079325;AF081280;AMYH01003009;AY049737;BC041067;BC054868;BM739536;BM765409;CH471066;NM_006993 AAC31609;AAD51496;AAH41067;AAH54868;AAL12172;ADQ32115;EAW49745;NP_008924;O75607 Hs.90691 1657319;1691318;1736092;2109573;2134776;2176862;2217606;5119449 D10S1358E;D10S1366E;D10S2388;D20S985;MGEA5_3775;NPM3_9094;RH92375;WI-14063 PORMIN;TMEM123 OTTHUMP00000020352;nucleophosmin/nucleoplasmin family, member 3;nucleoplasmin-3 APPROVED protein-coding ENSG00000107833 7931 07346 606456 REVIEWED 730878 NPPA natriuretic peptide A The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. [provided by RefSeq, Sep 2009] 1 1 p36.21 11828363 11830422 - 11905766 11907840 - 1580137;1579982;1580863;1578335;1580001;731210;1626244;1626242;2313586;2313590;2313592;2313589;2313591;2313593;1580773;6480464;7240710;7247713;7247715;7247722;7247315;7248593;7247717;7247731;7247720;7248602;7247714;7247723;1580139;1580154;1580140;7247716;7248660;7248663;7248617;7247719 15017020;12514664;15758553;16010968;14678232;11706124;12608696;19675071;15111511;10381153;15273657;12916000;9681733;15789000;23422200;22209992;19223006;8289999;20139323;20471588;10404802;2136863;17151304;23566312;19052536;11421854;16272201;2143809;22170009;12697975;12654066;15241786;19298916 6542248;18614783;18539145;18513389;18294255;18280250;18243818;18212314;18172431;18092954;17984371;17943627;17927564;17901852;17900714;17890485;17890443;17702963;17693975;17672826;17584735;17580193;17525707;17460430;17292492;17259761;17243909;17219958;17051589;17036337;16962475;16875975;16870210;16721833;16713569;16710414;16368448;16291573;16117728;16113566;16100725;15837528;15666592;15648549;15489334;15118286;15033935;14698679;14523183;12960255;12890912;12883099;12794112;12777209;12687344;12547834;12505872;12484513;12477932;12270761;12193960;12190955;12145475;12135603;12102171;12082592;12052474;11985060;11884416;11447495;11409652;11408388;10880574;9232196;8043577;7857923;6230082;6547996;14718574;19666519;19559392;19479237;19420105;19387964;19346663;19330901;19326473;19264973;19263529;19238444;19219041;19146799;19141362;19131662;19086053;19046820;19008326;18989245;18855222;18759454;18713751;18660489;18633189;6203042;6097248;6095119;6095118;3158606;2972276;2934979;2531377;2169733;1826098;1309330;12542678;15542826;6238331;22575314;15604093;1660465;1672777;19430483;19458086;19564455;19578796;19597492;19635983;19646991;19671135;19702001;19729120;19729601;19845278;19948975;20026756;20064500;20137368;20346360;20407391;20416077;20452482;20543198;20368210;20877298;19155075;20024606;21073007;19913121;20536507;20577119;20628086;20673868;20453667;20700369;20726994;21216831;20680650;20530040;21408188;21276088;20872251;21672517;21744319;22981931;23279037;21798427;21741108;21600847;21734186;21757823;21881323;21349128;21892902;21992849;21450637;21689370;22112816;22113444;21952518;22285803;22400494;22962310;22595807 4878 B0ZBE8;P01160 AA779538;ABBA01003060;AL021155;AMYH01000258;BC005893;CH471130;EU326308;K02043;K02044;K02399;M30262;M54947;NG_012926;NM_006172;X01470;X01471 AAA35528;AAA35529;AAA35669;AAA51730;AAB59379;AAH05893;ABM84041;ABM87388;ABW03581;ACA05916;CAA25699;CAA25700;EAW71717;NP_006163;P01160 Hs.75640 1682710;1742313;1742979;1744671;1748413;2144428 GDB:196313;GDB:226664;GDB:549199;Nppa;RH80468;SHGC-74238 ANF;ANP;ATFB6;CDD-ANF;PND OTTHUMP00000002504;atrial natriuretic factor;atriopeptin;cardionatrin;natriuretic peptide precursor A;natriuretic peptides A;prepronatriodilatin APPROVED protein-coding ENSG00000175206 7939 00164 108780;612201 REVIEWED 735682 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] 5 5 q35.1 170747403 170770493 + 170814708 170837888 + 1600902;1600907;1580863;6480464;6484113;7240710 15659732;15659725 22193965;15087454;12058066;9094689;11602260;12080348;9121481;18809582;10211837;16130169;11051553;16041368;18420587;17475909;19637342;19557552;19540590;19536888;19423729;19379554;19365794;19351769;19309322;19289604;19286999;19279329;19242062;19221506;19188445;19160485;19151774;19103589;19066330;19059939;19055671;19052985;19020547;19015314;19005479;18951898;18845790;18729828;18726096;18641025;18639523;18603563;18596743;18590714;18559874;18511415;18478020;18454140;18448670;18371977;18367491;18332108;18316603;18308931;18298902;18273044;18268276;18261272;18259216;18214681;18200037;18192111;18180033;18165222;18081718;18059485;18037965;17998938;17990177;17972951;17968318;17957027;17951246;17943167;17922009;17920239;17879352;17875528;17768124;17715399;17690700;17690253;17639390;17637816;17637812;17616680;17602943;17598835;17597811;17569113;17549383;17546053;17537995;17535915;17504301;17488663;17440048;17410190;17318229;17315018;17306368;17277230;17151698;17147251;17081983;17076533;16926303;16916647;16912078;16870548;16857742;16855788;16835382;16825495;16766651;16725311;16720834;16709933;16679321;16678898;16645213;16574551;16565220;16547420;16541144;16455956;16455950;16415342;16376875;16205118;16170350;16076867;16046528;15994285;15973451;15964625;15872011;15870172;15831697;15772089;15684379;15665273;15644315;15635413;15589822;15514966;15489334;15456888;15342556;15310764;15190079;15184379;15144954;15082766;14759373;14730621;14656879;14636574;14563642;14559993;14519847;14506644;12882984;12748172;12511551;12477932;12450141;12429849;12374805;12209603;12057857;12031912;11888936;11812799;11790298;11278991;11215285;10503877;9819383;9763551;9642267;9548374;9150948;9150888;9092824;9092633;8778315;8633037;8620867;8570204;8562957;8471164;8224012;8122112;8089149;7826206;7821789;7794916;7628555;7593322;7542384;3944116;2775293;2713355;2602120;2478125;2429957;2404140;2109912;2017166;16354571;18162579;18319061;18954305;18931307;17353931;15944709;22573554;17620599;22126574;22362118;22362753;22586326;20963938;21789382;21338238;20979630;20424160;20554525;11420665;12039952;14968112;15615785;16376884;16648475;17438371;17877154;18029348;19369962;19410545;19429869;19484332;19522705;19531656;19535344;19569254;19581289;19587375;19638589;19642896;19672946;19679565;19679658;19694479;19710015;19734942;19770764;19775300;19824900;19843866;19865112;19901261;19965647;20001230;20011973;20023256;20026798;20073075;20127469;20145123;20172040;20203266;20212148;20333249;20368538;20439648;20464055;20471513;20494930;20508983;20513120;20520634;16957780;20428199;21245599;22833565;23398456;20872983;21173125;20634376;20858903;20864535;17215513;19887368;20393185;20673208;20713446;20724983;20404347;19131589;20306250;20713529;20855646;20875872;20338617;20606168;20880116;20981679;20027629;20515654;20533335;16522924;16740634;19454010;20352051;20807181;20368469;20546020;20592250;20616361;20651067;20678218;20803351;16107701;16293633;20849383;21084279;20506166;20877721;21122805;21183700;20431927;20460684;20684989;21233837;20308691;21425800;20542566;21045017;21102525;21182834;21316727;18212063;20802533;20924036;21385873;21258971;21516736;21030560;22761710;22906848;21245151;21441929;23019224;21331074;20962268;21278791;21577323;21418451;21703420;21555683;21763502;21705779;20164180;20237420;21518927;21537492;19928837;20618440;21666141;21875946;15047060;20462248;23182705;12777385;15161933;15848144;15989956;19287380;19410544;21030982;21081666;21492127;21537333;23544830;22968966;21310483;21393327;21809990;21621842;21744003;21987572;22002061;22178446;16196087;20137111;21852383;21822216;21719597;21765024;21784052;21979956;19596686;21606167;23271972;22631075;19805454;21282530;21963094;21988832;22113938;22623428;22791379;22810585;22911473;22996295;23000965;23064464;23246001;23438482;19738201;21110914;22337638;22374696;22397365;22487825;22467873;19471022;20080577;21689627;21860418;21880628;21904378;21933585;22104247;21139048;21660047;21693764;21890473;21906983;17361185;20473970;22454318;22528486;21986840;22451695;15576338;17674968;18172692;18948745;19946338;20308430;21145461;22561347;22592607;16622419;21182205;22481022;22494415;22863883;23154527;23377436;23393136;18850631;23183427;23402259;23455922;23463506;23285058;23338972;22475129;22665062;23232117;23435463;19725029;23238897;23328624;23511494;22926011;23601747;21832049;22733614;22745010;22939629;23027902;18775548;19149558;19339032;21853274;22174317;22268729;22505724;22851180;23039052;22707729;22717133 4869 E5RGW4;E5RI98;Q8WTW5 AB042278;AB451236;AB451361;ABBA01044078;ABBA01044079;ABBA01044080;AC091980;AC093246;AI687394;AK000472;AK290652;AMYH01015806;AMYH01015807;AY347529;AY740634;AY740635;AY740636;AY740637;AY740638;AY740639;AY740640;BC002398;BC003670;BC008495;BC009623;BC012566;BC014349;BC016716;BC016768;BC016824;BC020467;BC021668;BC021983;BC024716;BC050628;BC107754;BP291033;BT007011;BU661768;CH471062;D28343;DQ303464;EF429251;J02590;M23613;M26697;M28699;M31004;NG_016018;NM_001037738;NM_002520;NM_199185;U89309;X16934 AAA36380;AAA36385;AAA36473;AAA36474;AAA58386;AAB94739;AAH02398;AAH03670;AAH08495;AAH09623;AAH12566;AAH14349;AAH16716;AAH16768;AAH16824;AAH21668;AAH21983;AAH50628;AAI07755;AAP35657;AAQ24860;AAW67752;AAW67753;AAW67754;AAW67755;AAW67756;AAW67757;AAW67758;ABC40399;ABM82958;ABM86149;ABP97432;BAA05709;BAA91188;BAB40600;BAF83341;BAG70050;BAG70175;CAA34809;EAW61443;EAW61444;EAW61445;EAW61446;EAW61447;EAW61448;EAW61449;NP_001032827;NP_002511;NP_954654;P06748 Hs.557550 1648924;1690772;5112854 D16S2968;REN60444;RH80894 B23;MGC104254;NPM OTTHUMP00000161024;OTTHUMP00000161025;OTTHUMP00000223397;OTTHUMP00000223398;nucleolar protein NO38;nucleophosmin;nucleophosmin 1;nucleophosmin/nucleoplasmin family, member 1;numatrin APPROVED protein-coding ENSG00000181163 7910 01246 164040;601626 REVIEWED 69139 NPPB natriuretic peptide B This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Jul 2008] 1 1 p36.2 11840108 11841579 - 11917521 11918992 - 1580138;1580139;1580143;1580863;1580140;70484;1626243;1642202;1642205;1642206;1642191;1642194;1642195;1642192;1642199;1642203;1642265;1642266;1642294;2324684;2293330;2324680;5685647;5685654;5685644;5685653;5685657;5685645;5685651;6480464;5685652;5685663;7248593;7247627;7248594;7248603;7247622;7248605;7247624;7247731;7247724;7246912;1580154;7247316;7247634;7246907;7246914;7247621;7247632;7247623;7247715;7248591;7248670;7247628;7247629;7248660;7246908;7247620;7247315;6907405 7657802;11421854;10636255;2143809;11897768;7552344;17118955;16893710;16762434;17554401;17296640;17273651;17392814;17151299;16936438;17303690;17256064;10828832;18068619;18192848;19858735;21959345;21410593;22087201;21689089;21403100;22037102;21808206;22165670;21168723;20139323;23122795;19413180;16917760;23415693;11729234;23192919;10404802;17639095;7606877;16272201;1831369;22038201;23733199;9350073;23562569;22071162;23373852;22209992;20438292;23940514;22863432;22397941;12697975;23725445;23837838;8289999;22188107 21162718;19386989;8890728;19845751;20350538;14960748;12727915;14737067;7601467;19546389;19424098;19387960;19387249;22322531;20214692;20829070;21371160;21450621;21858735;21872142;21909110;21952518;21960417;22087311;22105112;22113444;22154198;22138041;22160408;22166506;22209994;22234370;22286795;22368903;22374183;22390472;22397400;22536076;22670496;18256871;18255169;18252905;18243818;18219371;18194671;18191909;18177956;18163013;18160811;18077013;18055041;18049439;18037753;18037739;18037101;17996240;17972161;17959862;17943627;17901852;17900714;17891611;17881654;17879024;17855407;17822384;17785934;17721754;17719005;17690842;17669797;17662495;17643631;17607502;17607499;17567649;17519779;17517347;17490778;17482153;17478552;17412758;17381357;17365940;17343213;17340039;17323015;17289171;17186137;17175893;17149558;17112494;17099013;17097992;17086116;16962477;16962475;18258801;16940194;19377085;19359532;19356514;19356487;19339274;19327608;19327104;19326473;19322079;19299763;19298805;19293713;19263527;19262210;19237086;19221295;19219041;19214022;19210529;19194564;19172697;19168558;19130415;19127569;19103499;19086053;19032759;19008326;18971785;18971552;18971547;18957868;18948614;18923244;18855222;18824845;18823968;18816264;18794210;18789145;18786480;18762474;18729306;18728335;18721456;18712036;18706401;18701924;18660489;18654020;18649054;18632852;18609050;18609042;18573197;18562472;18537757;18528966;18513528;18513509;18484161;18450924;18443568;18440296;18418236;18394456;18394002;18388105;18378336;18375252;18374882;18362234;18353850;18353715;18347270;18335382;18328262;18326895;18322550;18319268;18309461;18298592;16937127;16875975;16870210;16831981;16829184;16801175;16754798;16733598;16733597;16722030;16716660;16710414;16697117;16648193;16644347;16624649;16600203;16594987;16546444;16495466;16446217;16386619;16377932;16338268;16338263;16338262;16338261;16338248;16298451;16293687;16236931;16236924;16236896;16203929;16189514;16185779;16179421;16117728;16061439;16037399;15947264;15911064;15875778;15735222;15732251;15689309;15686715;15644628;15619076;15616804;15604421;15525883;15489334;15277419;15118286;14967157;14726474;14645255;12890912;12861161;12832317;12771003;12742987;12612980;12601551;12477932;12084525;12015190;11999635;11750283;11120697;9832489;22307842;22676431;20598759;21376713;21689859;22143056;22421508;20492497;20636229;20700369;8837222;7901875;2597152;2522777;2138890;2136732;1309330;21215559;21273288;21110214;19944367;20470299;20539839;20539843;21333352;21701385;18054808;20187770;20234137;20470220;20505308;20507952;20562693;20581772;19809305;20173383;20713912;19247872;19929142;20102554;20576043;20576050;20660094;20883932;1660465;1672777;17899307;18495276;18602177;18632168;18649955;18703243;18759301;18774614;18835219;19077418;19116708;19157978;19166616;19183435;19189316;19194108;19275472;19359811;19391062;19398076;19407818;19430483;19444135;19455566;19487972;19494782;19497572;19505208;19523464;19542490;19560452;19581836;19584071;19606057;19615861;19615987;19635983;19638709;19642911;19643359;19653574;19662018;19667278;19670155;19685518;19690080;19708225;19719987;19719993;19729800;19740358;19755761;19808368;19815210;19816874;19838110;19843778;19860001;19919978;19920165;19929271;19932518;19945451;19968983;20023254;20024643;20051875;20083731;20087954;20113292;20142114;20216395;20228511;20346360;20407391;21397962;20002300;20610233;20655247;19155075;20709045;20727348;20947817;21214096;21261781;21486579;19329198;19356808;20519808;21086902;20140438;19844734;20038279;20364046;20368210;20536328;20370326;20378998;19830720;20690091;20553977;20575653;20812386;20729741;20846963;20979755;19157602;19492165;19913121;20142019;20142024;20142028;20441480;20506274;20628086;20726994;20807228;20930495;20978564;22546865;22847152;22938543;21217075;20090534;20223915;21041973;20731986;21364112;21199206;20887619;20528912;21178638;21234705;20805692;21110196;21188387;19568166;21108561;21131173;21131684;20835904;21067752;21464227;20849244;22545649;23114906;22222353;22841166;22825646;23019395;21152016;21225672;20485180;20505514;21070664;21304210;21714421;19042041;21498911;21558448;21567460;21617607;21127887;21297144;21343155;21620395;21700090;21387129;21473725;21413834;21624043;21824924;19394710;19477027;21394710;21629202;21173540;21939835;19729213;19900726;20034689;20373129;20956023;21435188;21792022;22386698;22785411;22834778;22973461;23064562;22989031;21111985;23132698;23183321;20804651;21470289;21514286;21763278;21798425;21200085;21600847;21696613;21697610;19712988;21538234;21884743;21663466;21892902;22116811;22349089;22691215;21955499;22316276;22658561;22740123;20701470;21857933;21891968;22072300;22242262;21367474;22396190;22998064;23377871;21464097;21516440;21543459;22018780;22325151;22543574;22645408;22664008;19897258;21900689;21450626;21779816;21838836;22137497;22313067;20674395;21604967;21795086;22310189;22439818;22753861;21480001;21526421;21584749;21993227;22000971;22251274;22384001;22547689;21396728;22327025;22608896;22997250;23047817;23152754;23152884;23349346;22629130;21807382;22878801;22878353;23357662;23071500;23217478;23228375;23006812;22532404;23051933;23119023;23149248;21194766;21397374;23058722;22412224;22541282;22773432;22914252;23471272;23289011;23341901;23789447;22685586;22797925;23033840;23042311;21955828;22581254 4879 P16860 AB037521;ABBA01003061;AJ708502;AL021155;AMYH01000258;BC025785;CH471130;CR541976;CR542003;EU326309;M25296;M31776;NM_002521 AAA35603;AAA36355;AAH25785;ACA05917;BAA90441;CAG46774;CAG46800;EAW71718;EAW71719;NP_002512;P16860 Hs.219140 1777546 G09534 BNP OTTHUMP00000002506;brain type natriuretic peptide;gamma-brain natriuretic peptide;natriuretic peptide precursor B;natriuretic peptides B;natriuretic protein APPROVED protein-coding ENSG00000120937 7940 08974 600295 REVIEWED 2291750 NPS neuropeptide S 10 10 q26.2 129237603 129240925 + 129347613 129350935 + 6480464 19240061;16926187;16790440;16720571;16574794;16282594;16279934;15312648;18376418;18181564;20705147;15947423;20405330;12036966;19824051;23142110 594857 P0C0P6 ABBA01009088;AL355316;AMYH01003173;BD168686;NM_001030013 AAI48466;AAI56666;NP_001025184;P0C0P6 Hs.643423 neuropeptide S;prepro-neuropeptide S protein-coding ENSG00000214285 33940 609513 PROVISIONAL 1351265 NPPC natriuretic peptide C The protein encoded by this gene is proteolytically processed to form a secreted hormone of the natriuretic peptide family. The encoded hormone regulates the growth and differentiation of cartilaginous growth plate chondrocytes and may also be vasoactive and natriuretic. [provided by RefSeq, Sep 2011] 2 2 q24-qter 232498379 232499203 - 232786805 232791038 - 1580150;1580149;1601488;1580863;1580770;1642294;1642268;1642292;1642297;1642267;1642296;6480464 12452325;15337698;16537417;8743538;10828832;16677483;11775888;8117275;17709640;8989116 17487764;12736257;19570815;19326473;19293575;19161538;19086053;19008326;18391951;18391643;18280250;17951249;17289171;16777970;16179391;16109786;16006435;15911070;15815621;15598085;15489334;15231517;14654233;12709393;12477932;12379507;12167597;11533490;9232196;9155593;8674895;8353861;8330189;7698765;2018508;1855454;1472040;1339402;1309330;20934962;20966902;20700369;20797397;20551602;20553977;20721606;20802130;20881960;19913121;20628086;1660465;1672777;19620509;20090473;20398908;20085572;20832589;22435455;22962429;21276798;21865234;21820448;22421372;22285383;23542429;22645228 4880 E5LCN7;P23582 ABBA01002031;AC013435;AMYH01011563;BC069120;BC105065;BC105067;CH471063;CS788277;D28874;D90337;JF420840;M64710;NM_024409 AAA35703;AAH69120;AAI05066;AAI05068;AAX88912;ADZ36320;BAA14351;BAA22154;CAP12670;EAW70984;NP_077720;P23582 Hs.247916;Hs.627236 1790349;5492933;5494021 NPPC;UniSTS:480745;UniSTS:483279 CNP;CNP2 C-type natriuretic peptide;OTTHUMP00000164308;OTTHUMP00000203815;natriuretic peptide precursor C APPROVED protein-coding 7941 08975 600296 REVIEWED 732882 NPR1 natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009] 1 1 q21-q22 151917737 151933088 + 153651164 153666468 + 1580154;1580174;1580175;1580176;1580863;737701;628585;1626243;1300048;6480464;6907045;7247722;7247730 16272201;14646971;12872042;11851379;9405681;12511524;7552344;19223006;17264312 12477932;12547834;14737067;14960748;12727915;7601467;19326473;19165164;19126660;19086053;18713751;18436476;18383440;18360023;18306933;17672826;17460430;16986166;16875975;16778132;16710414;16262696;15911610;15911069;15911067;15489334;15459247;12855709;12794112;12506509;12483301;22001395;22133375;12135318;12121994;11952097;11704663;9618281;9528788;8786123;7982997;7954658;7901875;7857923;2569967;1979052;1309330;10581150;20024606;15231748;1660465;1672777;19458086;19563399;19679847;20452482;20529973;20977274;20673868;20700369;22949736;21375691;21586128;21963094;23186809;21828054;20034689;20360068;21366551 4881 B0ZBF1;F6VFY8;P16066 AB010491;AB046472;ABBA01049444;AF190631;AK025024;AK298090;AK300446;AL713889;AMYH01001405;BC063304;CH471121;EU326310;NM_000906;S72628;X15357 AAD14112;AAF01340;AAH63304;ACA05918;ACA05919;BAA31199;BAC53955;BAG62168;BAH12723;CAA33417;EAW53284;NP_000897;P16066 Hs.490330 1684704;2107443;2134807;2152955 G15870;NPR1_7841;RH68403;RH99065 ANPRA;ANPa;GUC2A;GUCY2A;NPRA ANP-A;ANPR-A;GC-A;NPR-A;OTTHUMP00000035155;atrial natriuretic peptide receptor 1;atrial natriuretic peptide receptor type A;atrionatriuretic peptide receptor A;guanylate cyclase A;natriuretic peptide A type receptor;natriuretic peptide receptor 1;natriuretic peptide receptor A APPROVED protein-coding ENSG00000169418 7943 00165 108960 VALIDATED 1318978 NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae) 3 3 p21.3 50359923 50363490 - 50384919 50388486 - 737633;1580863;6480464 12477932 17353931;19140316;18616680;17018626;16641997;15489334;15374952;14702039;11980673;11085536;19274676;19521502;20193080;20154027;21822266;18029348;21906983;21900206;21963094;22939624;23079973;23321467 10641 F2Z2R8;F2Z3D4;Q8WTW4 ABBA01024549;AC002481;AF040707;AF040708;AK098161;AK292196;AK309658;AL833426;AMYH01013171;BC008802;BC021984;BC050412;BC056861;BC063030;CH471055;CR542035;NM_006545 AAB67310;AAC62535;AAC62536;AAH21984;AAH56861;BAF84885;CAG46832;EAW65106;EAW65107;EAW65108;EAW65109;EAW65110;EAW65111;EAW65112;NP_006536;Q8WTW4 Hs.437083 2164559 RH12450 NPR2;NPR2L;TUSC4 2810446G01Rik;G21 protein;NPR2-like protein;OTTHUMP00000210836;gene 21 protein;homologous to yeast nitrogen permease (candidate tumor suppressor);nitrogen permease regulator 2-like protein;tumor suppressor candidate 4 APPROVED protein-coding ENSG00000114388 24969 06147 607072 VALIDATED 733765 NPR2 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008] 9 9 p21-p12 35782406 35799728 + 35792406 35809728 + 1580771;1580772;1580863;1601488;1300048;6480464;6907045;7240710 15722353;10082481;16537417 1327579;19413180;19326473;19167912;19086053;18945719;17652215;17429599;15911610;15911070;15489334;15459247;15371450;15262909;15164053;15146390;14988324;14759258;12709393;12477932;12022755;11556325;11464256;11208455;10073597;9634515;9624142;8765168;7679284;2570358;22133375;22421372;1979052;1309330;20123316;20079378;20600420;20977274;20664698;20700369;19913121;20628086;1660465;1672777;19458086;22949736;22633662;21828054;14687666;21139048;23000965;22691581;21366551;22039354;23186809;22870295;22645228 4882 H7C056;H7C1A1;H7C1X0;Q8TA93 AB005647;ABBA01064984;AJ005282;AL133410;AMYH01019347;BC023017;BQ446138;CH471071;EU326311;L13436;NG_009249;NM_003995 AAH23017;AAI66642;ACA05920;ACA05921;ACA05922;BAA81737;CAA06466;EAW58337;EAW58338;EAW58339;EAW58340;NP_003986;P20594 Hs.78518 1684507;2107445;2143753;2181442 NPR2_7842;RH47078;SHGC-12605;STS-S83157 AMDM;ANPRB;ANPb;GUC2B;GUCY2B;NPRB;NPRBi ANP-B;ANPR-B;GC-B;NPR-B;OTTHUMP00000021345;acromesomelic dysplasia, Maroteaux type;atrial natriuretic peptide B-type receptor;atrial natriuretic peptide receptor 2;atrial natriuretic peptide receptor type B;guanylate cyclase B;natriuretic peptide receptor 2 APPROVED protein-coding ENSG00000159899 7944 00166 108961;602875 REVIEWED 7240985 NPTN-IT1 NPTN intronic transcript 1 (non-protein coding) q24.1 14702039;23395002;15146197;21769904 101241892 AC022735;AK055007;AL360198;CN411881;NR_103844 Hs.656678 1646055;1670614 D15S904;SHGC-24300 lncRNA-LET miscrna 45091 615176 VALIDATED 2290197 NPSR1-AS1 NPSR1 antisense RNA 1 This gene is located within a region that has been associated with asthma susceptibility. The locus is considered non-protein-coding based on lack of protein homology and a lack of experimental support for an encoded protein. Three alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2010] 7 7 7 p14.3 34367249 34855691 - 34356559 34877719 - 34386124 34873943 - 15073379;12477932;20395963;23382691 404744 Q6W4W4 AACC02000103;ABBA01056876;ABBA01056877;ABBA01056878;ABBA01056879;ABBA01056880;ABBA01056881;ABBA01056882;ABBA01056883;ABBA01056884;AC004788;AC005173;AC005174;AC005490;AC005491;AC005492;AC005493;AC005502;AC005582;AC005680;AC005685;AC005688;AC005852;AC005853;AC005862;AMYH01017171;AMYH01017172;AMYH01017173;AMYH01017174;AY312364;AY312365;AY312366;AY312367;AY312368;AY312369;AY312370;AY312371;AY312372;AY312373;AY321515;AY321516;BC031961;BC130477;BX649082;CH471073;NG_021366;NR_015356;NR_033664;NR_033665;U85653 AAQ85133;AAQ85134;AAQ85135;AAQ85136;AAQ85137;AAQ85138;AAQ85139;AAQ85140;AAQ85141;AAQ87609;AAQ87610;EAW94027;EAW94028;EAW94029;EAW94030;EAW94031;EAW94032;EAW94033 Hs.487951 1338034;1340844;1645456;1647419;1659345;1661282;1676918;1679539;1691398;1691400;1691402;1691404;1691406;1691410;1706266;1710222;1715535;1718149;1718507;1760449;1768805;1772132;1847563;1852752;1855815;2122028;2122481;2129692;2137260;2140820;2142811;2152711;2168586;2176577;2184168;2218166;5096374 AAA1__4226;AFM067XA9;D6S258;D7S2237;D7S2916;D7S497;G16032;G16037;G16038;G16039;G16040;G16045;G16046;G42096;G42097;G42098;G42099;G42100;G42102;GDB:1317338;GDB:1318428;GDB:3755015;GDB:3755035;GDB:6028489;RH121422;RH122842;RH123514;RH36381;RH44587;RH79868;SGC34904;SGC35025;SHGC-142894;SHGC-56032;SHGC-80683;SHGC-83741;WI-21900 AAA1 APPROVED miscrna ENSG00000197085 22128 12265 608596 VALIDATED 731641 NPR3 natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 5 5 p14-p13 32747422 32823013 + 32710743 32791830 + 1581459;1580773;737701;1580863;1580175;1580774;1580149;6480464 15044621;15789000;9405681;12872042;10468599;15337698 8620881;19326473;19086053;18633189;17951249;17890443;16870210;15911072;15911071;15785005;15459247;15017020;12768436;11556325;11533490;7996793;7901875;7727388;2169733;2162522;1979052;1309330;21572416;12477932;1660465;19343178;19352691;19458086;19570815;20379614;20398908;20700369;19913121;20546612;20628086;11181995;11256614;14702039;15489334;16291870;20691218;17192395;20823417;21464461;22421372;21987572;21909110;21909115;22116950;22001395;17081983;21963094;22559095;22995222;20881960 4883 A8K4A5;C9JK69;D6RDL8;H0Y9B9;P17342;Q60I31 AB101582;ABBA01066746;ABBA01066747;AC008766;AC026703;AF025998;AI335695;AK024116;AK290870;AK300094;AK308301;AMYH01015000;AMYH01015001;BC022250;BC131540;BF224187;BQ014050;CH471118;M59305;NG_028162;NM_000908;NM_001204375;NM_001204376;X52282 AAA51734;AAB88801;AAH22250;AAI31541;BAB14832;BAC56126;BAF83559;BAG61896;CAA36523;EAX10797;EAX10798;EAX10799;EAX10800;NP_000899;NP_001191304;NP_001191305;P17342 Hs.13528;Hs.619466 1762731;2123887;2160738;2160849;5113200 L28195;RH71385;SGC32140;SHGC-146519;SHGC-56933 ANP-C;ANPR-C;ANPRC;C5orf23;FLJ14054;GUCY2B;MGC22189;NPR-C;NPRC ANP-C;ANPR-C;NPR-C;OTTHUMP00000161704;OTTHUMP00000197047;OTTHUMP00000197048;OTTHUMP00000220980;OTTHUMP00000226999;atrial natriuretic peptide clearance receptor;atrial natriuretic peptide receptor 3;atrial natriuretic peptide receptor type C;atrionatriuretic peptide receptor type C;natriuretic peptide receptor 3 APPROVED protein-coding ENSG00000113389 7945 00167 108962 REVIEWED 1606330 NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) The function of the encoded protein is not known. [provided by RefSeq, Aug 2011] 16 16 16 p13.3 337330 390318 - 75800 128672 - 135800 188697 - 6480464 16728641;16344560;15616553;14702039;12477932;8575760;19521502;19666006;17207965;20308539;21555518;22538705;22318606;21906983;21963094;23446634;23222517;23263863;23406172 8131 A8MVF6;B1B1F5;B7Z220;B7Z6Q0;F8WBJ1;F8WCB2;F8WDA5;F8WE46;F8WEK2;F8WEK7;H7BXG2;Q12980;Q9BTE2 ABBA01030389;ABBA01030390;ABBA01030391;ABBA01030392;ABBA01030393;ABBA01030394;AK026990;AK090717;AK125420;AK294228;AK298795;AK300736;AMYH01006982;BC004185;BC012825;BC020392;CH471112;DA075508;DA258664;DA658076;DC384076;DQ431198;NG_029669;NM_001039476;NM_001077350;NM_001243247;NM_001243248;NM_001243249;X90857;Z69666;Z69720;Z84722;Z84813 AAH04185;AAH12825;ABD95907;ADQ32756;BAG52219;BAH11706;BAH12872;BAH13336;CAA62368;CAB06556;CAI94885;CAI94886;CAI95611;CAI95612;CAM13055;EAW85865;EAW85867;EAW85868;NP_001034565;NP_001070818;NP_001230176;NP_001230177;NP_001230178;Q12980 Hs.19699 1339419;1742995;1748225;1748293;1759953;1767699;1791458;1799136;1799582;1804566;1805240;1805242;1805384;1805586;1806124;1806340;1806948;1807558;1809400;1811706;1812244;1812372;1812744;1813536;1814140;1814854;1815230;1815806;1816290;1817478;1818580;1820788;1822970;1824720;1825514;1826160;1828676;1829224;1830192;1830896;1831926;1834348;1835530;1836706;1836760;1837508;1837510;1838364;1838630;1838748;1839258;1840658;1840960;1841496;1842798;2047006;2047008;2047010;2047012;2047014;2047016;2047018;2047020;2047022;2047024;2047026;2047028;2047030;2047032;2047034;2047036;2047038;2047040;2047042;2047044;2047046;2047048;2047050;2047052;2047054;2047056;2047058;2047060;2047062;2047064;2047066;2047068;2047070;2047072;2047074;2047076;2047078;2047080;2047082;2047084;2047086;2047088;2047090;2047092;2047094;2047096;2047098;2047100;2047102;2047104;2047106;2047108;2047110;2047112;2047114;2047116;2047118;2047120;2047122;2047124;2047126;2047128;2047130;2047132;2047134;2047136;2047138;2047140;2047142;2047144;2047146;2047148;2047150;2047152;2047154;2047156;2047158;2047160;2047162;2047164;2047166;2047168;2047170;2047172;2047174;2047176;2047178;2047180;2047182;2047184;2047186;2047188;2047190;2047192;2047194;2047196;2047198;2047200;2047202;2047204;2047206;2047208;2047210;2047212;2047214;2047216;2047218;2047220;2047222;2047224;2047226;2047228;2047230;2047232;2047234;2047236;2047238;2047240;2047242;2047244;2047246;2047248;2047250;2047252;2047254;2047256;2047258;2047260;2047262;2047264;2047266;2047268;2047270;2047272;2047274;2047276;2047278;2047280;2047282;2047284;2047286;2047288;2047290;2047292;2047294;2047296;2047298;2047300;2047302;2047304;2047306;2047308;2047310;2047312;2047314;2047316;2047318;2047320;2047322;2047324;2047326;2047328;2047330;2047332;2047334;2047336;2047338;2047340;2047342;2047344;2047346;2047348;2047350;2047352;2047354;2047356;2047358;2047360;2047362;2047364;2047366;2047368;2047370;2047372;2047374;2047376;2047378;2047380;2047382;2047384;2047386;2047388;2047390;2047392;2047394;2047396;2047398;2047400;2047402;2047404;2047406;2047408;2047410;2047412;2047414;2047416;2047418;2047420;2047422;2047424;2047426;2047428;2047430;2047432;2047434;2047436;2047438;2047440;2047442;2047444;2047446;2047448;2047450;2047452;2047454;2104374;2104376;2104378;2104380;2104382;2104384;2104386;2104388;2104390;2104392;2104394;2104396;2104398;2104400;2104402;2104404;2104406;2104408;2104410;2104412;2104414;2104416;2104418;2104420;2104422;2104424;2104426;2104428;2104430;2104432;2104434;2104436;2104438;2159458;2169623;2182018 D16S3399;ECD00414;ECD00643;ECD03214;ECD03565;ECD03566;ECD03639;ECD03743;ECD04016;ECD04125;ECD04439;ECD04751;ECD05692;ECD06857;ECD07129;ECD07193;ECD07383;ECD07791;ECD08099;ECD08458;ECD08650;ECD08943;ECD09187;ECD09789;ECD10353;ECD11469;ECD12573;ECD13458;ECD13865;ECD14190;ECD15465;ECD15741;ECD16229;ECD16584;ECD17101;ECD18322;ECD18921;ECD19517;ECD19544;ECD19921;ECD19922;ECD20356;ECD20489;ECD20552;ECD20809;ECD21519;ECD21673;ECD21945;ECD22606;G29196;G66703;G66706;GDB:229313;PMC110816P1;REN94633;REN94634;REN94635;REN94636;REN94637;REN94638;REN94639;REN94640;REN94641;REN94642;REN94643;REN94644;REN94645;REN94646;REN94647;REN94648;REN94649;REN94650;REN94651;REN94652;REN94653;REN94654;REN94655;REN94656;REN94657;REN94658;REN94659;REN94660;REN94661;REN94662;REN94663;REN94664;REN94665;REN94666;REN94667;REN94668;REN94669;REN94670;REN94671;REN94672;REN94673;REN94674;REN94675;REN94676;REN94677;REN94678;REN94679;REN94680;REN94681;REN94682;REN94683;REN94684;REN94685;REN94686;REN94687;REN94688;REN94689;REN94690;REN94691;REN94692;REN94693;REN94694;REN94695;REN94696;REN94697;REN94698;REN94699;REN94700;REN94701;REN94702;REN94703;REN94704;REN94705;REN94706;REN94707;REN94708;REN94709;REN94710;REN94711;REN94712;REN94713;REN94714;REN94715;REN94716;REN94717;REN94718;REN94719;REN94720;REN94721;REN94722;REN94723;REN94724;REN94725;REN94726;REN94727;REN94728;REN94729;REN94730;REN94731;REN94732;REN94733;REN94734;REN94735;REN94736;REN94737;REN94738;REN94739;REN94740;REN94741;REN94742;REN94743;REN94744;REN94745;REN94746;REN94747;REN94748;REN94749;REN94750;REN94751;REN94752;REN94753;REN94754;REN94755;REN94756;REN94757;REN94758;REN94759;REN94760;REN94761;REN94762;REN94763;REN94764;REN94765;REN94766;REN94767;REN94768;REN94769;REN94770;REN94771;REN94772;REN94773;REN94774;REN94775;REN94776;REN94777;REN94778;REN94779;REN94780;REN94781;REN94782;REN94783;REN94784;REN94785;REN94786;REN94787;REN94788;REN94789;REN94790;REN94791;REN94792;REN94793;REN94794;REN94795;REN94798;REN94799;REN94800;REN94801;REN94802;REN94803;REN94804;REN94805;REN94806;REN94807;REN94808;REN94809;REN94810;REN94811;REN94812;REN94813;REN94814;REN94815;REN94816;REN94817;REN94818;REN94819;REN94820;REN94821;REN94822;REN94823;REN94824;REN94825;REN94826;REN94827;REN94828;REN94829;REN94830;REN94831;REN94832;REN94833;REN94834;REN94835;REN94836;REN94837;REN94838;REN94839;REN94840;REN94841;REN94842;REN94843;REN94844;REN94845;REN94846;REN94847;REN94848;REN94849;REN94850;REN94851;REN94852;REN94853;REN94854;REN94855;REN94856;REN94857;REN94858;REN94859;RH45665;RH78394;SHGC-30625;SHGC-60793;stSG608856;stSG608857;stSG608858;stSG608859;stSG608860;stSG608861;stSG608862;stSG608863;stSG608864;stSG608865;stSG608866;stSG608867;stSG608868;stSG608869;stSG608870;stSG608871;stSG608873;stSG608875;stSG608876;stSG608878;stSG608879;stSG608880;stSG608881;stSG608882;stSG608883;stSG608884;stSG608885;stSG608886;stSG608891;stSG608892;stSG608893;stSG608894;stSG608895 C16orf35;CGTHBA;HS-40;MARE;NPR3;RMD11 -14 gene protein;OTTHUMP00000067190;OTTHUMP00000197538;alpha-globin regulatory element-containing gene protein;conserved gene telomeric to alpha globin cluster;nitrogen permease regulator 3-like protein APPROVED protein-coding ENSG00000103148 14124 11866 600928 REVIEWED 1347629 NPSR1 neuropeptide S receptor 1 This gene is a member of the G protein-coupled receptor 1 family and encodes a plasma membrane protein. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Mutations in this gene have also been associated with this disease. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 p14.3 34664422 34884469 + 34697897 34917944 + 4891930;4891932;4891921;4891922;4891923;4891931;6480464;7240710 20179762;16938805;15073379;18285428;17702965;17854592 19325992;19264973;19258923;19247692;18588753;18340359;18305139;17703412;17669576;17285544;17210045;16926187;16829631;16790440;16522461;16098057;15990798;15947423;15941840;15777626;15764725;15741670;15710598;15312648;14757815;14702039;12690205;12679517;12477932;12036966;18029348;19614867;19624525;19732772;19874863;19951440;19996348;20379614;20503287;19824051;19913121;20603625;20628086;20628342;20705147;20701904;22078257;21707994;21525857;22216302;22548958;23142110;23372674;23382691;22479518 387129 Q6JSL6 AACC02000103;ABBA01056879;ABBA01056880;ABBA01056881;ABBA01056882;ABBA01056883;ABBA01056884;AC004788;AC005174;AC005492;AC005493;AC005680;AC005853;AC005862;AK124929;AK172847;AMYH01017172;AMYH01017173;AMYH01017174;AY255536;AY310326;AY310327;AY310328;AY310329;AY310330;AY310331;AY310332;AY956446;AY956447;AY956448;BC132693;BC132695;BC144380;CH471073;DQ272236;NG_012185;NM_207172;NM_207173 AAI32694;AAI32696;AAI44381;AAO85048;AAQ76966;AAQ76967;AAQ76968;AAQ76969;AAQ76970;AAQ76971;AAQ76972;AAX63744;AAX63745;AAX63746;ABB72550;ADR82967;BAD18811;EAL24469;EAL24470;EAW94034;EAW94035;EAW94036;EAW94037;NP_997055;NP_997056;Q6W5P4 Hs.652373 1338034;1691400;1691404;1691406;1691410;1710222;1768805;1772132;1790397;1847563;1852752;2110435;2140820;2168586 D7S3241;D7S497;G16032;G16040;G42097;G42099;G42100;G42102;GDB:3755015;GDB:3755035;GPR154__7542;SHGC-56032;SHGC-83741;WI-21900 ASRT2;GPR154;GPRA;NPSR;PGR14;VRR1 G protein-coupled receptor 154;G protein-coupled receptor for asthma susceptibility;G-protein coupled receptor 154;G-protein coupled receptor PGR14;G-protein coupled receptor for asthma susceptibility;OTTHUMP00000125228;OTTHUMP00000125229;OTTHUMP00000202902;OTTHUMP00000202905;OTTHUMP00000229151;neuropeptide S receptor;vasopressin receptor-related receptor 1 APPROVED protein-coding ENSG00000187258 23631 10547 608584;608595 REVIEWED 1350677 NPVF neuropeptide VF precursor 7 7 7 p21-p15 25253342 25257259 - 25230714 25234630 - 25264189 25268105 - 6480464 17474147;11025660;12853948;12690205;11951088;11481330;11173868;8889548;20027225 64111 Q9HCQ7 AACC02000007;AB040290;ABBA01056732;AC004129;AF330057;AF440392;AF440393;AF440394;AF440395;AMYH01017122;BM714303;CH236948;CH471073;NM_022150 AAI60068;AAK94201;AAL90453;AAL90458;AAP22339;BAB17674;EAL24237;EAW93830;NP_071433;Q9HCQ7 Hs.60473 1690694;1693922;1789122 G42652;G65697;RH98988 C7orf9;RFRP FMRFamide-related peptide;FMRFamide-related peptides;OTTHUMP00000158625;RFamide-related peptide;chromosome 7 open reading frame 9;neuropeptide NPVF protein-coding ENSG00000105954 13782 VALIDATED 1319794 NPTX2 neuronal pentraxin II This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009] 7 7 q21.3-q22.1 98084545 98097116 + 98246597 98259181 + 1580863;6480464 19667215;8530029;19058789;17987278;17895837;17408830;16115696;15489334;12853948;12690205;12477932;10748068;9261167;22460132;22806544;21778928;21161403;21812817 4885 P47972 AACC02000085;ABBA01045712;ABBA01045713;AC074121;AC092688;AK311250;AMYH01017717;BC009924;BC034781;BC035339;BC048275;BI561105;CH236956;CH471091;NG_009905;NM_002523;U26662;U29195 AAA68980;AAA92296;AAH09924;AAH34781;AAH35339;AAH48275;AAQ93363;ABM83978;ABM87299;EAL23889;EAW76705;NP_002514;P47972 Hs.3281 1646489;1646491;2134321;2142370;2164491 1878;A001X35;D7S2113E;G19759;NPTX2 NARP;NP-II;NP2 OTTHUMP00000205574;apexin;neuronal activity-regulated pentaxin;neuronal pentraxin-2 APPROVED protein-coding ENSG00000106236 7953 02853 600750 REVIEWED 733531 NPTN neuroplastin This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] 15 15 15 q22 50730984 50804846 - 71639410 71712806 - 73852344 73925753 - 6480464 17196182;17123723;15489334;15340161;15146197;12477932;9110174;8995369;8619474;17500595;22939629;21900206;21139048;21906983;22268729 27020 F5GYM7;F5GZD0;H3BQ94;H3BU51;H7BXJ1;Q9UFM8;Q9Y639 AB209812;ABBA01038709;AC022735;AF035287;AF109126;AF109127;AI357728;AK129908;AK297184;AK304478;AK313441;AK314248;AL117411;AMYH01006776;AMYH01006777;BC030773;BC067828;BC105979;BC117462;BC143880;BC143881;CH471082;CN357076;CR936779;NM_001161363;NM_001161364;NM_012428;NM_017455 AAB88179;AAD43217;AAD43218;AAI05980;AAI17463;AAI43881;AAI43882;ADR82893;BAD93049;BAG36914;BAH12519;BAH14196;CAB55909;EAW77930;EAW77931;EAW77932;NP_001154835;NP_001154836;NP_036560;NP_059429;Q9Y639 Hs.187866 1646055;1670614;1696964;1782026;2121709;2140631;2149242;2157144;2161325;2173185;2176182;5022578;5491585 D15S1086;D15S1291;D15S904;D1S1423;G31039;MARC_21804-21805:1025095690:1;RH101954;RH46305;SHGC-149501;SHGC-24300;STS-H81048;WI-11717;WI-14402 DKFZp686L2477;GP55;GP65;MGC102805;SDFR1;SDR1;np55;np65 OTTHUMP00000174915;OTTHUMP00000174916;SDR-1;neuroplastin;stromal cell derived factor receptor 1;stromal cell-derived receptor 1 APPROVED protein-coding ENSG00000156642 17867 18033 612820 REVIEWED 1321571 NPTX1 neuronal pentraxin I NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 75069005 75078529 - 76055228 76064999 - 78440633 78450404 - 1580863;6480464 8884281;17151277;16344560;16115696;15489334;14702039;12477932;10748068;11239433;22939629;21110914;19322201 4884 Q15818 ABBA01015399;ABBA01015400;AC120024;AI124625;AK124701;AK127335;AL119012;AMYH01008697;BC089441;BX537550;CH471099;CK005561;DA188847;FB749994;NM_002522;U61849 AAC50727;AAH89441;ACE86608;ACE87289;BAG54073;BAG54485;CAT02176;EAW89617;NP_002513;Q15818 Hs.514556;Hs.715784 DKFZp686J2446;MGC105123;NP1 NP-I;neuronal pentraxin-1 APPROVED protein-coding ENSG00000171246 7952 03843 602367 REVIEWED 1607068 NPTXR neuronal pentraxin receptor This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 23021120 23046674 - 37544403 37569963 - 39214456 39240017 - 1642301;1642302;6480464 16497176;12242102 10591208;18029348;19368810;16115696;12477932;10748068;9261167;9110174;8619474;20379614;16344560 23467 O95502 ABBA01055538;ABBA01055539;AF052163;AL008583;AL161974;AL162057;AMYH01012768;BC043606;CA423268;CH471095;DA321562;DR007138;NM_014293 AAI48602;AAI53028;EAW60273;EAW60274;EAW60275;NP_055108;O95502 Hs.91622 1658663;1678527;1679155;1689893;1731871;2117997;2118433;2121146;2122210;2187319;5118444;7187811 2028;D11S3316;D22S285E;D22S286E;IB342;RH93419;STS-M79042;STS-R45141;UniSTS:148579;WI-19878;WI-5819 NPR OTTHUMP00000197414;neuronal pentraxin receptor APPROVED protein-coding ENSG00000221890 7954 14837 609474 REVIEWED 1345559 NPY6R neuropeptide Y receptor Y6 (pseudogene) 5 5 5 q31.2 133259175 133268733 + 137171361 137173313 + 137136882 137146440 + 1580863;6480464 8910373;11027673;9013614;8910290 4888 Q99463 ABBA01068702;AC106791;AK297855;AK299427;AMYH01015638;CH471062;D86519;DC357138;NR_002713;U59431;U67780 AAB19187;BAA13103;BAG60187;BAG61407;EAW62180;EAW62181;Q99463 Hs.643466 1794044;1794046;1794834 PMC310777P10;PMC310777P11;PMC60063P2 FLJ52676;FLJ53561;NPY1RL;NPY6RP;PP2;Y2B pseudo ENSG00000226306 7959 601770 VALIDATED 1605830 NPW neuropeptide W The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2281696 2282931 + 2009522 2010757 + 2069521 2070756 + 6480464 18240029;12401809;12959997;16847439;16394174;16273281;15797961;12719537;12477932;12130646;12118011;8889548;18577758;2834384;21628590 283869 H3BT17;H3BT42;Q8N729 AB084276;ABBA01030280;AC005606;AC093513;AL365519;AL365521;AMYH01007047;BC150534;BM985063;CK817957;NM_001099456 AAI50535;AAI60149;BAC07172;NP_001092926;Q8N729 Hs.233533 L8;L8C;PPL8;PPNPW hPPL8;neuropeptide W;prepro-neuropeptide W;preproprotein L8 APPROVED protein-coding ENSG00000183971 30509 607997 REVIEWED 730830 NPY neuropeptide Y This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. [provided by RefSeq, Nov 2009] 7 7 p15.1 24290334 24298002 + 24323807 24331484 + 1580177;1580179;1580182;1580183;1580184;1580178;1357412;1358535;1580863;1357410;6480464;6480264;7175103;7175091 11689216;15800380;15068713;15926114;15364898;16046456;15749341;14757324;15699473;22328461;17804485;20543711 10557353;9001438;1321422;8132547;2427515;10488139;8421707;15894681;15850450;15847953;15797951;15759545;15736042;15680469;15625769;15597110;15489334;15485137;15336593;15201542;15165988;15126561;14751436;14747236;14628185;12932169;12878188;12875921;12853948;12843176;12818415;12782203;12759898;12690205;12689610;12663466;12646110;12609745;12544000;12479530;12477932;12454738;12215082;12209475;12187924;12187394;12106685;12081635;12034130;12015205;12007534;11932939;11914038;11884208;11814620;11696660;11422604;11410744;11325787;11278902;11196643;10770181;10698177;10561544;9845072;9008359;2444979;19619519;19587357;19491387;19423065;19404163;19367093;19309436;19289742;19264362;19245788;19240061;19150389;19119412;19086053;19058789;19056482;18996102;18974842;18828811;18815063;18715275;18641693;18636124;18499283;18461271;18423883;18420205;18385673;18279562;18257117;18241322;18211417;18055304;18054939;18043699;18037100;18031993;17984244;17948870;17702963;17695723;17554476;17525122;17516289;17366345;17325259;17305733;17268419;17187020;17154253;17066479;16912140;16785149;16568137;16500360;16459651;16390370;16383010;16383009;16383001;16383000;16382999;16382997;16339211;16136022;16135994;15959845;15897713;7782078;7559383;6589611;3839058;3753985;1425680;21626172;22393040;20675276;20138117;20648632;20164781;20734064;21041608;21047193;20676138;18577758;20823688;19913121;20554694;20602615;20628086;20673868;20691708;19566775;19620246;19699258;19804960;19846279;19854625;19865784;19874574;19913525;19942238;20033074;20037921;20173430;20180986;20308990;20351714;20435026;20452482;20453000;20459474;20468064;20531438;7493937;21640760;20832114;20945961;21145602;21303710;9067840;22808091;22308535;22966009;23021333;23599389;21468772;21396710;21849543;21190576;21426768;15604093;21273004;21746772;21346312;21898706;23457218;21796371;21937627;22584873;22143932;22289186;21917383;22492775;23074243;23390522;22632858;22849656;21988832;22941950;22985695;22979996;23083763;23107365;23110814;23116540;23122776;23277265;23459936 4852 A4D158;P01303 AACC02000007;ABBA01056720;AC004485;AI198311;AK312156;AMYH01017118;BC029497;CH236948;CH471073;K01911;M14295;M14296;M14297;M14298;M15789;NG_016148;NM_000905 AAA59944;AAA59945;AAA59946;AAH29497;AAQ96843;ABM84261;ABM87650;BAG35090;EAL24248;EAW93807;NP_000896;P01303 Hs.1832 2124200;2156516 NPY;STS-M14298 PYY4 OTTHUMP00000122447;OTTHUMP00000201946;OTTHUMP00000201947;neuropeptide Y;prepro-neuropeptide Y;pro-neuropeptide Y 1643507;2289312;2289453 BW292_H;BW297_H;BW391_H APPROVED protein-coding ENSG00000122585 7955 01214 162640 REVIEWED 1347163 NPY1R neuropeptide Y receptor Y1 Neuropeptide Y (NPY; MIM 162640) is one of the most abundant neuropeptides in the mammalian nervous system and exhibits a diverse range of important physiologic activities, including effects on psychomotor activity, food intake, regulation of central endocrine secretion, and potent vasoactive effects on the cardiovascular system. Two major subtypes of NPY (Y1 and Y2) have been defined by pharmacologic criteria. NPY receptors, such as NPY1R, have been identified in a variety of tissues, including brain, spleen, small intestine, kidney, testis, placenta, and aortic smooth muscle (Herzog et al., 1992 [PubMed 1321422]).[supplied by OMIM, Mar 2008] 4 4 q31.3-q32 164464567 164473198 - 164245117 164253947 - 1580863;1357410;1642322;1642324;1642306;1642307;1642319;1642311;1642320;1642609;6480464 15699473;10320723;17700210;9861026;17562528;10891620;16728491;10521595;15337376 18953866;15231747;1317848;1321422;19077438;19058789;18828811;18812316;18698022;17948870;17325259;17140570;16891622;16339211;15623622;15597110;15489334;15302312;12665544;12477932;12220433;12209475;12203398;12084524;12007534;11906964;11814622;11741903;9001438;8095935;7559383;2834384;18577758;20471432;16344560;19913121;20532202;20628086;20797317;19481128;19506390;19566775;19593212;19699258;19712806;19759915;19874574;20468064;20837140;21295110;22309839;21971867;22645275;22487268 4886 B4DKL9;D6R9D0;D6RC44;D6REY0;D6RHH6;D6RI97;P25929 A26126;A26481;AB209237;ABBA01070269;ABBA01070270;AC079238;AK296624;AK298282;AK312578;AMYH01014665;AY548168;BC036657;BC071720;CH471056;DA531980;HC025806;L07614;L07615;M84755;M88461;NM_000909;X99269 AAA59920;AAA59947;AAA73215;AAH36657;AAH71720;AAS55647;ABM82191;ABM85379;BAD92474;BAG35472;BAG59231;BAG60542;CAA01787;CAA01819;CBH19834;EAX04841;NP_000900;P25929 Hs.519057;Hs.733329 1648852;1797904;2113778;2140582;2145501 NPY1R;NPY1R_956;SHGC-12458;SHGC-59526;SHGC-67951 NPY1-R;NPYR NPY1-R;OTTHUMP00000220111;OTTHUMP00000220115;neuropeptide Y receptor type 1 1643249;2289563 BW135_H;BW441_H APPROVED protein-coding ENSG00000164128 7956 01215 162641 VALIDATED 731586 NPY5R neuropeptide Y receptor Y5 4 4 q31-q32 164484541 164492536 + 164265091 164273086 + 729324;1625494;1625501;1625503;1580863;1625506;1331525;1625492;1625493;1625496;6480464 12417430;15187000;12689918;12161018;11026575;15118671;17426313;10849579;9212103 8824284;19086053;19077438;19058789;18828811;17948870;17325259;16891622;15601626;15302312;12665544;12477932;12398768;12220433;12007534;10575027;9417917;9169127;8700207;20332211;18577758;20602615;20797317;2834384;19481128;19593212;19759915;19874574;20468064 4889 Q15761 ABBA01070270;AC079238;AMYH01014665;AY322538;BC034224;BC042416;CH471056;NM_006174;U56079;U66275;U94320 AAC50623;AAC50741;AAC51295;AAH42416;AAP84351;EAX04839;EAX04840;NP_006165;Q15761 Hs.519058;Hs.598503 1794074;1794076;1796420 NPY5R_960;PMC310777P8;PMC310777P9 NPY5-R;NPYR5;NPYY5-R NPY-Y5 receptor;NPY5-R;NPYY5-R;OTTHUMP00000220088;OTTHUMP00000220089;OTTHUMP00000220109;Y5 receptor;neuropeptide Y receptor type 5 1643249;2289563 BW135_H;BW441_H protein-coding ENSG00000164129 7958 03591 602001 PROVISIONAL 731662 NPY4R neuropeptide Y receptor Y4 10 10 q11.2 46503540 46508326 + 47083534 47088320 + 1580863;6480464 8643460;7592911;18826257;15489334;12477932;12007534;11975932;11906964;11825645;11739470;9441761;9417917;7493937;18577758;19229253;19481128;20379614;2834384;22947943;21745157 5540 P50391;Q4KKW2 AC244230;AL390716;AY268432;AY649985;AY649986;BC096238;BC099637;CQ793781;CR541950;GM881488;GM889549;NM_001278794;NM_005972;U35232;U42387;XM_003960470;Z66526 AAB07759;AAC50280;AAH96238;AAH99637;AAP23199;AAV68196;AAV68197;CAA91433;CAG26290;CAG46748;CAI13318;CAV09711;CAV28326;NP_001265723;NP_005963;P50391;XP_003960519 Hs.524719 1688759;1794832;5492817;5494015 PMC60063P1;RH70629;UniSTS:480728;UniSTS:482797 MGC116897;NPY4-R;NPY4R;PP1;PPYR1;Y4 OTTHUMP00000019520;neuropeptide Y receptor type 4;pancreatic polypeptide receptor 1 2289527 BW436_H APPROVED protein-coding ENSG00000204174 9329 03476 601790 VALIDATED 1348310 NPY2R neuropeptide Y receptor Y2 4 4 q31 156349232 156357678 + 156129781 156138228 + 1580863;1580787;1642609;1642379;1642381;6480464 15342191;15337376;17019604;15855352 9001438;8132547;1321422;7559383;9692752;7592910;19086053;19058789;18828811;18700141;18622237;18569526;17992642;17948870;17325259;17235527;16891622;16331299;15623622;15489334;15331560;12813010;12477932;12084524;12007534;11906964;11408607;9651375;8975716;8643460;8632753;21352822;18029348;19481128;19593212;19759915;19874574;19953226;19957593;20359722;20468064;20421142;18577758;20471432;20676138;20543711;19913121;20628086;20642810;20811389;2834384;20959467;22732667;21295110;21745157;21696823;21999704;22629465;21818152;23020974;23149563;22487268 4887 P49146 ABBA01070163;AC104407;AMYH01014634;AY236540;BC075052;BC075053;CH471056;NM_000910;U32500;U36269;U42389;U42766;U50146;U76254 AAA93170;AAB04120;AAB07760;AAC50281;AAC51115;AAD00248;AAH75052;AAH75053;AAO92062;AAY40940;EAX04901;NP_000901;P49146 Hs.37125 1776006;1792748;1797906;2143716;5492753 NPY2R_958.2;PMC161419P2;SHGC-35647;STS-U42766;UniSTS:482294 NPY2-R NPY-Y2 receptor;NPY2-R;OTTHUMP00000220313;OTTHUMP00000220314;Y2 receptor;neuropeptide Y receptor type 2 1643249;1643467;2289563 BW100_H;BW135_H;BW441_H protein-coding ENSG00000185149 7957 01216 162642 PROVISIONAL 735868 NQO1 NAD(P)H dehydrogenase, quinone 1 This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 q22.1 68300805 68318034 - 69743304 69760533 - 727509;1580863;1300048;2301044;5134971;5134973;5135005;5134963;5135003;5133254;5133268;5134962;5133267;5133239;5135006;5133246;5133265;5134987;5134980;5133247;5133235;5133249;6480464 12603827;17619904;18787991;18559366;19591959;18798003;11679176;14991562;19596483;19017358;19705749;21120604;19027876;20734248;21479364;15781212;18556627;19424637;21259333;17721935 10487530;16598069;16595077;16532285;16520888;16413497;16385446;16369108;16343742;16341674;16321221;16297214;16284498;16266898;16235998;16235982;16172237;16170238;16157195;16079101;16054862;16039674;16038261;16006997;16003741;15938845;15838728;15829318;15808404;15767364;15763338;15749015;15748501;15747169;15746160;15734732;15731166;15727169;15714076;15694256;15661231;15640066;15618957;15590400;15498787;15489334;15466980;15385560;15382274;15370874;15365958;15355699;15352038;15334552;15312971;15298951;15280903;15279067;15226677;15219943;15196853;15184245;15151706;15138483;15116053;15111988;15079792;15061915;15028279;14985350;14729580;14720419;14716779;14694720;14688016;14675732;14669229;14634838;14634213;14592434;14568289;14506737;13130177;12960511;12867492;12854127;12834817;12777965;12771035;12718704;12718576;12713578;12711112;12694753;12529318;12480594;12477932;12468438;12460800;10393963;9579781;2843525;19494791;19415745;19382518;19360290;19339270;19336370;19330589;19251446;19229058;19214744;19179423;19174490;19162321;19151739;19138946;19096102;19074885;19059883;19027952;19012698;19012493;18992148;18986377;18981090;18977034;18950733;18945694;18936436;18836923;18820947;18813798;18784359;18720901;18676680;18676018;18636124;18632753;18601742;18587252;18569591;18511948;18510611;18457324;18444911;18444152;18416817;18413200;18407955;18404535;18393254;18388957;18253865;18225579;18218609;18214807;18203021;18156703;18098117;18091324;18074351;18061941;18061666;18034618;18024413;17901563;17885617;17869325;17726138;17669387;17652311;17644186;17603928;17581325;17575500;17541156;17507624;17496311;17476281;17469025;17449559;17428572;17424838;17405841;17400324;17395013;17378176;17372252;17367411;17363580;17337051;17332311;17332305;17188257;17179690;17178637;17166422;17164365;17119198;17118447;17113562;17082176;17027152;17011189;16985026;16978807;16818284;16775388;16702380;16620556;16610002;12439220;12419832;12417987;12397416;12393620;12393447;12383707;12370194;12232053;12172217;12171760;12171070;12164325;12163326;12037698;12036913;12018106;11967624;11956078;11948402;11943609;11895912;11894133;11888914;11840286;11821413;11810042;11774269;11773862;11766168;11722480;11701227;11688992;11551408;11520401;11319169;11219774;11051261;10706635;10543876;22393995;21577322;21706157;9230185;8125298;2071140;1737339;1657151;1340765;10447260;22306249;21133623;20480521;20701904;20819778;20824655;20851451;20878130;20935060;20951227;20966810;21041608;21073132;19913121;20534171;20568895;20593958;20628086;20634891;20663217;20599494;21117316;18029348;19170196;19362588;19456854;19549356;19593802;19625176;19628038;19651439;19652895;19657853;19661089;19671875;19688691;19692168;19715479;19736056;19759547;19778569;19789190;19808663;19822020;19899130;19952119;20026093;20027111;20028737;20049130;20049212;20056632;20085630;20091863;20100551;20110814;20193673;20194081;20198579;20200430;20204281;20214802;20331656;20371868;20373852;20375710;20437850;20453000;20461808;20480816;20511665;20526719;20526805;20962519;20391128;20226854;20613985;21480392;21220432;22249251;22960073;23086932;22736108;22911602;21294640;21524888;21755707;21531452;21176850;21605663;22925602;22770696;23497461;22972504;22939629;21253823;21329464;21602889;21800014;21211285;21946896;22016051;22272361;21502369;21718050;22586705;21139048;21906983;22976839;23215885;23275341;21964527;21989715;22021338;21351093;22017531;22387672;22793692;22215148;22483869;23360829;22853296;23110137;19738201;21963094;22623428;23000965;23054000;23276910;21861350;22984577;21756955;22116627;23643325;23824909;23065291;23458878;23066387;23066397 1728 B4DLR8;H3BNV2;H3BRK3;P15559 ABBA01025538;AC092115;AK223050;AK297125;AK297979;AK298896;AK307533;AK309513;AK312368;AK316246;AMYH01007770;AV729122;AY281093;BC000906;BC007659;BC107739;BE903613;BM052991;BM452267;BM787983;BM828301;CD014005;CH471092;HH961748;HI573928;HI573930;HI573932;J03934;M81600;NG_011504;NM_000903;NM_001025433;NM_001025434 AAA59940;AAB60701;AAH07659;AAI07740;AAP20940;ABM83818;ABM87138;BAD96770;BAG35286;BAG59630;BAG60289;BAG61007;BAH14617;CBX47453;CBX47454;CBX47455;CBX51347;EAW83282;EAW83283;EAW83284;NP_000894;NP_001020604;NP_001020605;P15559 Hs.406515 1741355;1797158;1797908;2120287;2161681;5037552 D8S2279;GDB:180917;NQO1;NQO1_2205;RH68871;SHGC-31516 DHQU;DIA4;DTD;NMOR1;NMORI;QR1 DT-diaphorase;NAD(P)H dehydrogenase [quinone] 1;NAD(P)H:Quinone acceptor oxidoreductase type 1;NAD(P)H:menadione oxidoreductase 1;NAD(P)H:quinone oxidoreductase 1;NAD(P)H:quinone oxireductase;OTTHUMP00000174897;OTTHUMP00000174898;azoreductase;diaphorase (NADH/NADPH) (cytochrome b-5 reductase);diaphorase-4;dioxin-inducible 1;menadione reductase;phylloquinone reductase;quinone reductase 1 APPROVED protein-coding ENSG00000181019 2874 00518 125860 REVIEWED 1350844 NR0B1 nuclear receptor subfamily 0, group B, member 1 This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008] X X p21.3 30232506 30237413 - 30322539 30327495 - 1580863;6480464 15084237;9384387;10848616;7990953;15100213;16709599;11875111;15464421;19384854;19237537;19199243;19188450;19129717;19015525;18984668;18941128;18827407;18824868;18819054;18591936;18417736;18381063;18202527;18038713;17646707;17573657;17308433;17114343;16834661;16713569;16684822;16645015;16275267;16232195;16206264;16146703;15988384;15879363;15841486;15800903;15589120;15489334;15379426;9360549;9063431;9003500;8855822;8675564;8636263;8593542;7990958;7951319;7677767;6891556;1505987;1301166;9415399;15044589;12843196;12771131;12727988;12636049;12629128;12519885;12482977;12477932;12213901;12213854;12083815;12034880;11788621;11748852;11738790;11713202;11549627;11459805;11443184;11113848;11053406;10713076;10675358;10599709;10522996;10412368;10361383;10341858;10323730;9529340;9486644;21227944;21029627;14963109;15604093;17686645;19644015;19651776;19672728;19726747;19773398;19920188;20080977;19508677;20573681;20301604;21378322;21164257;22896671;22761912;19528230;21856289;21632081;21672607;21270512;18160712;22768659;21775412;21739173;22456342;22749036;23018754 190 A6NNU8;F1D8P4;P51843 ABBA01072924;AC005185;AC005926;AMYH01022191;AW612655;BC011564;BI772108;CH471074;HQ692832;NG_009814;NM_000475;S74720;S79548;U31929 AAB32751;AAC13875;AAD14311;AAH11564;ADZ17343;EAW99051;NP_000466;P51843 Hs.268490 1678625;1702092;1744741;1744743;1797910;5022796 GDB:555626;GDB:555633;GDB:555638;NR0B1;NR0B1_2627;RH80290 AHC;AHCH;AHX;DAX-1;DAX1;DSS;GTD;HHG;NROB1;SRXY2 DSS-AHC critical region on the X chromosome protein 1;OTTHUMP00000023102;nuclear hormone receptor;nuclear receptor DAX-1;nuclear receptor DAX1;nuclear receptor subfamily 0 group B member 1 APPROVED protein-coding 7960 08362 300473 REVIEWED 732873 NR0B2 nuclear receptor subfamily 0, group B, member 2 The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008] 1 1 p36.1 27110566 27113047 - 27237975 27240567 - 1600912;1580863;2311606;2311604;6480464;6907045;7240710 11136233;17259388;18781616 17686645;16709599;11030331;19491387;19366697;19322021;18842595;15459958;15317749;15358835;15314177;15292277;15269224;15202934;15123650;14762685;14752053;14672953;14627819;14593077;12842887;12716767;12716764;12477932;12324453;12198243;12181644;11890664;11861507;11735420;11705994;11696534;11668176;10648597;10594021;9773978;9603951;8650544;15707893;18775915;18660489;18657049;18459945;18385139;18325392;18307978;18276794;18234786;17910058;17646707;17522048;17289919;17145766;17094771;17074765;16825495;16762922;16710414;16344560;16282330;16123152;15973435;15723037;15489334;20375098;15835920;20516075;11964378;20882396;17210713;17071613;20211142;20734064;14963109;15604093;16488887;17909097;19372104;19509248;19641626;19720831;19793803;19793822;20175750;20233523;20346360;19594294;21725089;20853064;21262773;21459093;23010719;23042943;22314666;22977252;17895379;22362755;21566081;21725320;22575647;22171277;22292081;19237537;22737255;23038264;22197810 8431 F1D8P5;Q15466 AA872285;AB058644;ABBA01034934;AF044316;AI457167;AK310048;AL356390;AMYH01000414;BC030207;CH471059;DA930064;HQ692833;L76571;NG_012143;NM_021969 AAC41998;AAH30207;ADZ17344;BAB68530;EAX07781;NP_068804;Q15466 Hs.427055 1646339;1677748;1681235;5022578 D1S1423;D1S3511;RH79895;RH93759 FLJ17090;SHP;SHP1 OTTHUMP00000004414;nuclear receptor SHP;nuclear receptor subfamily 0 group B member 2;orphan nuclear receptor SHP;small heterodimer partner 2289443;2289613 BW396_H;BW413_H APPROVED protein-coding ENSG00000131910 7961 05219 601665;604630 REVIEWED 2289770 NR1H5P nuclear receptor subfamily 1, group H, member 5, pseudogene 1 1 1 p13.2 113606553 113626735 + 115178857 115199038 + 115377334 115397515 + 6480464 18065488;15229292;12529392;20210993 643609 ABBA01068469;AL358372;AMYH01000968;NG_007471 Fxrb;NR1H5 APPROVED pseudo 32673 INFERRED 1351629 NQO2 NAD(P)H dehydrogenase, quinone 2 NQO2 (EC 1.10.99.2) is a flavoprotein that catalyzes the 2-electron reduction of various quinones, redox dyes, and the vitamin K menadione. NQO2 predominantly uses dihydronicotinamide riboside (NRH) as the electron donor (summary by Wu et al., 1997 [PubMed 9367528]).[supplied by OMIM, Jul 2010] 6 6 p25.2 2945066 2964993 + 3000067 3019994 + 1580863;6480464;7240710 21145461;1691923;19351655;19350405;19343046;18826489;18579530;18538895;18502195;18336668;18314446;18254726;17332305;16545679;16191666;16189514;16129418;16025450;15993843;15694256;15489334;15451063;15350128;15078100;14702039;14639047;14617031;12960511;12477932;11809856;11688992;11051261;10471077;10433694;9367528;9050836;8182056;21294640;18029348;20966810;17545619;19495956;19671875;20050988;20379614;2843525;22939629;22770696;21555518;21803122;21718050;21946896;22623531;21351093;18781797;21890473;21906983;22266466;20301425;21963094;23054000;23471972 4835 A2A2U4;P16083;Q5TD05;Q5TD07 AB050248;ABBA01048622;AK056981;AK097187;AK311746;AL133351;AMYH01016028;AMYH01016029;AY299456;AY855291;BC006096;BI670476;CH471087;J02888;NM_000904 AAA60239;AAB60642;AAH06096;AAW29945;BAB16974;BAG34689;BAG51838;EAW55107;EAW55108;EAW55109;EAW55110;EAW55111;NP_000895;P16083 Hs.145597;Hs.533050 1651739;1670527;1673453;1679056;1725613;5037552 D8S2279;G62093;RH94182;SHGC-30249;SHGC-57006;STS-J02888 DHQV;DIA6;FLJ39868;NMOR2;QR2 NAD(P)H menadione oxidoreductase 2, dioxin-inducible;NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2;NRH dehydrogenase [quinone] 2;NRH:quinone oxidoreductase 2;OTTHUMP00000015948;OTTHUMP00000015949;OTTHUMP00000015950;OTTHUMP00000015951;OTTHUMP00000015952;OTTHUMP00000015953;OTTHUMP00000163078;quinone reductase 2;ribosyldihydronicotinamide dehydrogenase;ribosyldihydronicotinamide dehydrogenase [quinone] APPROVED protein-coding ENSG00000124588 7856 01190 114480;160998 VALIDATED 731848 NR1D1 nuclear receptor subfamily 1, group D, member 1 This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013] 17 17 q11.2 35502567 35510499 - 38249037 38256973 - 1580863;6480464 15761026;1971514;8622974;19267705;18804497;18511497;18228528;18227153;18037887;18006707;17075855;16484495;23083441;9405624;15190009;15489334;15302935;15013753;14684825;12821652;12683943;12477932;12454280;12377782;12114512;12021280;11669620;9660968;9482666;8948627;2539258;1850510;21479263;20581824;19913121;20628086;8889548;23449984;20534529;15604093;16219912;19693801;19696364;19710360;19818381;19839995;20072116;20160030;20174623;20348464;20396431;20817722;21832049;22024429;21906983;22224817;23398316;22538398 9572 F1D8S3;P20393 ABBA01031845;AC068669;AK300155;AK315270;AMYH01008380;AY429554;BC047875;BC056148;BM671861;CH471152;HQ692861;M24898;M24900;M34339;M34340;NG_033084;NM_021724;X72631;X95536 AAA36561;AAA36562;AAA52332;AAA52335;AAH47875;AAH56148;ADZ17372;BAG61939;CAB53540;EAW60636;NP_068370;P20393 Hs.592130;Hs.724 1730331;1763271;1780412;1797912;1798274;2117650;2180246;2191711;5016614 AW259572;D10S2160;D17S1644E;MARC_5497-5498:996690469:1;NR1D1_2626;RH110;RH125185;SHGC-146999;THRA_2263 EAR1;THRA1;THRAL;ear-1;hRev OTTHUMP00000164452;Rev-ErbAalpha;V-erbA-related protein 1;nuclear receptor Rev-ErbA-alpha;nuclear receptor subfamily 1 group D member 1;rev-erbA-alpha;thyroid hormone receptor, alpha-like protein-coding ENSG00000126368 7962 03873 602408 REVIEWED 737421 NR1D2 nuclear receptor subfamily 1, group D, member 2 This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 3 3 p24.2 23961810 23996241 + 23986751 24022109 + 1580863;6480464 7997240;18454201;18218725;18037887;17996965;17870090;16741567;15489334;12477932;11113208;10198169;9482666;8948627;15604093;20348464;9611234;21123168;22318606;21906983 9975 B4DXD3;F1D8P2;Q14995;Q6NSM0 AB209091;AB307693;ABBA01025034;ABBA01025035;ABBA01025036;AC124914;AK293273;AK301925;AK313464;AMYH01013030;BC015929;BC045613;BC070035;BX537786;CA412377;CH471055;CR457434;D16815;DR004486;HQ692830;HQ692831;L31785;NM_001145425;NM_005126 AAA65937;AAH15929;AAH45613;AAH70035;ADZ17341;ADZ17342;BAA20088;BAD92328;BAG36250;BAG56802;BAG63345;BAH02284;CAG33715;EAW64340;EAW64341;NP_001138897;NP_005117;Q14995 Hs.37288 1652867;1739775;1763927;1791576;1797914;1855547;1855549;2174044;2184846;5015404;5015861;5015879;5016478;5020740;5022578;5022651;5024413;7185938 D10S16;D11S2921;D1S1423;D3S3477E;D3S3941;GDB:314949;GDB:434012;L17705;L17809;L17877;NR1D2_2031;PMC115222P4;RH47404;SGC34561;SHGC-147591;SHGC-76776;STS-L31785 BD73;EAR-1R;RVR OTTHUMP00000208397;V-erbA-related protein 1-related;nuclear receptor Rev-ErbA beta variant 1;nuclear receptor Rev-ErbA beta variant 2;nuclear receptor subfamily 1 group D member 2;orphan nuclear hormone receptor BD73;rev-erb-beta;rev-erba-alpha-related receptor APPROVED protein-coding ENSG00000174738 7963 03809 602304 REVIEWED 1347339 NR1I4 nuclear receptor subfamily 1, group I, member 4 22817 7970 1352469 NR1H2 nuclear receptor subfamily 1, group H, member 2 The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010] 19 19 q13.3 55571497 55578079 + 50879680 50886285 + 61674;1626248;1580863;6480869;6480877;6482187;6480864;6482195;6480464;6482198 7971966;17108812;21815813;21266776;20939869;21859686;20679224;20467332 21315073;12393874;17693624;17186944;19303409;19292929;19105208;18854425;18782758;18660489;18636124;18597895;18221307;18182682;18081155;18026184;17900622;17845217;17766241;17724434;17626048;17405904;17396233;17391100;17218271;17135302;17110595;17045963;16973760;16904112;16567856;16524875;16482468;16354658;16344560;16298468;15548517;15539633;15489334;14702039;14699103;14643652;12957674;12819202;12736258;12477932;12198243;21356276;12040022;11546778;10187832;9874807;7926814;7782080;7760852;7625741;11158331;16189514;19913121;20628086;22723445;20655109;12724417;15604093;16141411;16219912;17936707;19060904;19242521;19426978;19436111;19481530;19796621;19837721;19933273;19948975;20159957;20176747;20219900;20364260;21507939;12663743;20836841;20855565;21042792;15774904;22939629;22969086;21951066;21900206;22029530;21331046;22027013;21937108;22257474;18372238;22367754;21988832;22990668;23018104;23223141;22766509 7376 B3KRG6;B4DNM6;E7EWA6;F1D8P7;M0QYE6;M0QZF5;M0R0K3;M0R1V8;M0R229;M0R2F9;M0R3A7;P55055 AB307697;ABBA01068328;AC008655;AI252503;AK091535;AK290855;AK297978;AL598714;AMYH01009936;BC007790;BC033500;BC047750;BC074500;CA414979;CH471135;CR456706;CR749648;DA053472;HQ692835;NM_001256647;NM_007121;U07132;U14534 AAA58594;AAA61783;AAH07790;AAH33500;AAH47750;AAH74500;ABM81580;ADZ17346;BAF83544;BAG52378;BAG60288;BAH02288;CAG32987;CAH18442;EAW71850;EAW71851;EAW71852;EAW71853;EAW71854;EAW71855;NP_001243576;NP_009052;P55055 Hs.432976 1678067;5022200;5022578;5022588;5022651 D11S2921;D1S1423;D5S1597E;L18426;RH70542 FLJ17564;LXR-b;LXRB;NER;NER-I;RIP15;UNR LX receptor beta;liver X nuclear receptor beta;liver X receptor beta;liver X receptor-beta;nuclear orphan receptor LXR-beta;nuclear receptor NER;oxysterols receptor LXR-beta;steroid hormone-nuclear receptor NER;ubiquitously-expressed nuclear receptor 2289232 BW89_H APPROVED protein-coding ENSG00000131408 7965 02660 600380 VALIDATED 734103 NR1H4 nuclear receptor subfamily 1, group H, member 4 This gene encodes a ligand-activated transcription factor, which shares structural features in common with nuclear hormone receptor family, such as a DNA-binding domain that targets the receptor to specific DNA sequences, and a ligand-binding domain, which interacts directly with the ligand and contains a ligand-dependent transcriptional activation domain. This protein functions as a receptor for bile acids, and when bound to bile acids, regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 q23.1 99391810 99481774 + 100867551 100957645 + 729010;1580983;1580984;1625076;1625080;1625205;1625202;1580863;6480464;6907045 7774010;15576845;15317749;16557297;15047603;14623915;15644430 20447400;12917342;10334992;9223286;10334993;19245866;19228886;19195631;19150878;19072826;19059462;19028791;19027009;18972560;18927204;18842595;18779653;18769028;18768987;18676680;18668687;18660489;18514055;18436567;18029909;17988216;17931734;17876519;17681172;17519356;17507182;17495603;17333335;17272748;17241392;17071613;17054793;17047076;16778009;16494845;16460270;16423920;16269519;16251721;16197915;16037943;16012168;15817812;15721319;15604525;15590640;22223860;15564327;15471871;15454728;15342685;15202934;15187081;14990788;14988830;14684751;14527955;12891557;12815072;12806625;12761213;12754200;12660231;22446874;12554753;12477932;12062799;12004058;11733517;11136553;7760852;20399894;21296199;19105941;14701856;15604093;16219912;17474147;18563553;18755856;19170196;19393742;19418582;19556342;19625176;19692168;19833092;19864602;19910507;19913569;19948975;19996107;20026603;20189675;20346360;23251605;23546875;18978041;20855565;20883210;20827719;21323950;16344560;21364590;15911693;20373033;22898327;23507574;21330447;20338915;23042943;21596433;19883617;21619550;21856289;17895379;22252013;22266736;22285937;22817871;22929053;22969091;21862343;21988803;21887309;21893226;22146319;21633855;22265968;22474109;22558273;22632967;22561792;23119029;23341777;23056173;21431940;22550135;23703321;23530060;22952826 9971 B6ZGS9;F1DAL1;F8W1M1;F8W656;G8JLB0;H0YHD5;Q96RI1 AB307699;ABBA01053252;ABBA01053253;ABBA01053254;ABBA01053255;AC010200;AF384555;AF478445;AF478446;AK296612;AK296647;AK312959;AMYH01004697;BC035654;BC071778;BC130573;BC144183;BC144184;BC144187;BX571749;CH471054;DA011411;HQ709175;NG_029843;NM_001206977;NM_001206978;NM_001206979;NM_001206992;NM_001206993;NM_005123;U68233 AAB08107;AAH71778;AAI30574;AAI44185;AAK60271;AAM53550;AAM53551;ADZ17382;BAG35798;BAH02290;BAH12398;BAH12409;CAE11874;EAW97638;EAW97639;EAW97640;NP_001193906;NP_001193907;NP_001193908;NP_001193921;NP_001193922;NP_005114;Q96RI1 Hs.282735;Hs.732506 1334831;1659529;1705836;1746419;1746905;1792124;1793416;1793418;1793420;1797916;1850487;2145458;2173501;2175097;7185145 AFM326tf5;D12S332;D12S871;G64580;G64833;NR1I2_2318;PMC137182P6;PMC219489P1;PMC219489P2;PMC219489P3;RH15652;RH79063;SGC33913;SHGC-81175 BAR;FXR;HRR-1;HRR1;MGC163445;RIP14 OTTHUMP00000243579;OTTHUMP00000243784;OTTHUMP00000243786;OTTHUMP00000243789;OTTHUMP00000243790;RXR-interacting protein 14;bile acid receptor;farnesoid X nuclear receptor;farnesoid X receptor;farnesoid X-activated receptor;farnesol receptor HRR-1;retinoid X receptor-interacting protein 14 APPROVED protein-coding ENSG00000012504 7967 04827 603826 REVIEWED 1606467 NR2C2AP nuclear receptor 2C2-associated protein 19 19 19 p13.11 19217020 19219034 - 19173224 19175238 - 19312224 19314238 - 6480464 17054912;15381082;12486131;12477932;17207965 126382 B4DW92;F5H0B6;K7ERL0;K7ES62;Q86WQ0 ABBA01051318;AC003110;AK301426;AMYH01009606;AY101377;BC057837;CF993811;NG_007432;NM_176880 AAH57837;AAM48286;ADQ33035;BAG62954;NP_795361;Q86WQ0 Hs.708153;Hs.732708 2186872 STS-N25631 TRA16 OTTHUMP00000240447;OTTHUMP00000240448;TR4 orphan receptor associated protein TRA16;TR4 orphan receptor-associated 16 kDa protein;nuclear receptor 2C2-associated protein;repressor for TR4 transactivation protein-coding ENSG00000184162 30763 16376 608719 VALIDATED 733364 NR1H3 nuclear receptor subfamily 1, group H, member 3 The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 p11.2 47237309 47246972 + 47269851 47290584 + 1580788;1580863;1626248;6480864;6480464;6907045 15625283;17108812;21859686 21356276;21562465;21889884;22723445;22707265;21775116;22503545;22547570;17766241;17724434;17644777;17628006;17452725;17416342;17405904;17396233;17391100;17296605;17272748;17255360;17218271;17217555;17135302;17110595;16973760;16956579;16941683;16920108;16904112;16758300;16567856;16482468;16354658;16341674;16249184;16170053;16106051;16054077;15548517;15539633;15489335;15489334;15353176;15342556;15319359;14702039;14699103;12957674;12932788;12477932;12470296;12198243;12161442;12117567;12054659;12032151;11875109;11149950;11135616;11035776;10022764;9630215;9231657;9013544;8621574;8510758;17936707;15615782;12040021;7744246;17693624;17186944;19481530;19380774;19366697;19360318;19292929;19261092;19211025;19164445;19119143;19105208;19060910;18854425;18789440;18669643;18660489;18636124;18562803;18511497;18372238;18327405;18276933;18250151;18209740;18182682;18096827;18024509;18007013;17960176;17845217;21315073;19913121;20057170;20628086;21245992;20219900;20494359;20655109;20410489;12724417;15604093;16141411;16143103;19201410;19426978;19436111;19628791;19645823;19796621;19798078;19837721;19933273;20005944;20037595;20080977;20118482;20139031;20190811;20237496;20364260;20211142;20836841;20837115;20855565;21042792;19229075;11090131;20868688;12663743;20506155;20945144;19697157;21125317;21187453;23163651;21266776;21350215;21832049;22137263;22969086;23496987;21349840;22916038;21316679;16344560;21310851;21440016;21951066;22634718;21903943;21625070;22257474;21136146;22027013;23041609;21937108;22749359;22399489;20686565;22399527;22311022;22457708;22623531;22367754;21988832;22939624;22990668;23018104;22569763;22984430;23185273;23393188;22641099;23099324;22766509 10062 B4DXU5;B5MBY7;C9J2C8;C9J4R0;C9JBS2;C9JCS0;C9JEC2;C9JJ16;C9JTS4;E9PID2;E9PLL4;E9PPA1;F1D8N1;F8WC63;F8WEY6;Q13133 AA644385;AB307698;ABBA01060721;AC018410;AI097478;AI648486;AK122661;AK290614;AK302132;AK309027;AK311590;AK313311;AMYH01003541;AU133574;AU135617;BC008819;BC041172;BM835230;BP300071;BT019411;CH471064;CV026805;HQ692819;NG_030392;NM_001130101;NM_001130102;NM_001251934;NM_001251935;NM_005693;U22662 AAA85856;AAH08819;AAH41172;AAV38218;ACE86722;ACE87408;ADZ17330;BAF83303;BAG36116;BAG53649;BAG63507;BAH02289;EAW67942;EAW67943;EAW67944;EAW67945;EAW67946;EAW67947;EAW67948;EAW67949;NP_001123573;NP_001123574;NP_001238863;NP_001238864;NP_005684;Q13133 Hs.438863 1794632;1795158;2108321;2116349;2144395;5115848;7184962 NR1H3_7962;PMC33205P3;PMC99927P1;RH79033;STS-U22662;ksks34 CHOP;LXR-a;LXRA;RLD-1;TLS/CHOP OTTHUMP00000198037;OTTHUMP00000198038;OTTHUMP00000198039;OTTHUMP00000198040;OTTHUMP00000198041;OTTHUMP00000234325;OTTHUMP00000234326;OTTHUMP00000234328;OTTHUMP00000234330;liver X nuclear receptor alpha variant 1;liver X receptor alpha;liver X receptor, alpha;liver X receptor-alpha;oxysterols receptor LXR-alpha APPROVED protein-coding ENSG00000025434 7966 07211 602423 REVIEWED 1353162 NR2C2 nuclear receptor subfamily 2, group C, member 2 Members of the nuclear hormone receptor family, such as NR2C2, act as ligand-activated transcription factors. The proteins have an N-terminal transactivation domain, a central DNA-binding domain with 2 zinc fingers, and a ligand-binding domain at the C terminus. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes (Yoshikawa et al., 1996 [PubMed 8661150]).[supplied by OMIM, Mar 2008] 3 3 p25 14964240 15065784 + 14989236 15090780 + 69908;634394;1580863;6480464 8661150;8016112 18977241;18654987;9006963;18029348;17601350;14743216;14702039;14633987;12615366;12547194;12522137;12486131;12477932;12093744;11844790;11585904;10611280;9737983;7708055;12943985;10644740;15302918;15604093;19618297;19859911;19955181;20164171;20200282;20379614;16446357;17449468;17626013;20393820;21126370;21068381;16751776;16887930;17974920;20604713;21835421;23455924;23653479;21980489;21915030;21918225;22242598;22544925;22558309;22488850;21331078;21670149;22158122;12804775;20064081;22643835;22851693;22641218;22939624;22981905 7182 C9J2Y1;C9JKS0;C9JMI6;F2YGU2;H7C3L1;H7C3R1;P49116;Q6PHZ7 AB307708;ABBA01025147;AC090937;AC090954;AK091226;AK094590;AK290590;AMYH01012997;AMYH01012998;AMYH01012999;BC030715;BC051670;BF307171;CA430806;CH471055;HQ995528;L27586;NM_003298 AAA21474;AAH51670;ADZ31973;BAF83279;BAH02299;EAW64213;EAW64214;EAW64215;NP_003289;P49116 Hs.555973 1645201;1687632;1724883;1797920;1846983;2170173;2184876;5015867;5020946;5022450;5118820 D10S275;D11S3688;D3S3339;GDB:312714;L17971;NR2C2_2354;RH119206;RH94219;SHGC-76739;STS-R79814;STS-T71249 TAK1;TR2R1;TR4;hTAK1 Nuclear hormone receptor TR4;OTTHUMP00000160276;OTTHUMP00000208280;OTTHUMP00000208281;TR4 nuclear hormone receptor;nuclear receptor subfamily 2 group C member 2;orphan nuclear receptor TAK1;orphan nuclear receptor TR4;testicular nuclear receptor 4;testicular receptor 4 APPROVED protein-coding 7972 03253 601426 VALIDATED 1344163 NR1I3 nuclear receptor subfamily 1, group I, member 3 This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q23.3 159466080 159474624 - 161199456 161208000 - 1580863;6480464 21296199;9783588;16554032;8114692;19302787;19034627;18713018;18332083;18331826;18305370;18303024;18294295;18202305;18154449;18056193;17962186;17888866;17876342;17596880;17576804;17464991;17276571;15933212;15919766;15831521;15618763;15610735;15572376;15563456;15489334;15382119;15272053;15252010;15194709;15151997;14567971;12896978;12799447;12644704;12644700;12611900;12551939;12511605;12485946;12477932;12376703;12181452;12130689;12114525;11891224;9773978;9295294;8650544;8603043;16712791;20197307;20622021;14963109;15604093;19682433;19702932;19858220;20218903;17207965;22815988;21359593;18552123;22896671;20966044;21415305;21517853;22910411;21715435;21873423;22093699;21733368;21988832;22939624;23079705;23614276;8020947 9970 B7Z8R7;C0H5Y2;D6REZ7;E9PB75;E9PC13;E9PCF2;E9PDU3;E9PHC8;Q6GZ69;Q6GZ70;Q6GZ72;Q6GZ76;Q6GZ79;Q6GZ81;Q6GZ82;Q6GZ87;Q6GZ89 AA918394;AB307702;ABBA01016596;AK303757;AK303796;AK310773;AK316208;AL590714;AMYH01001457;AY572806;AY572807;AY572808;AY572809;AY572810;AY572811;AY572812;AY572813;AY572814;AY572815;AY572816;AY572817;AY572818;AY572819;AY572820;AY572821;AY572822;AY572823;AY572824;AY572825;AY572826;AY572827;BC030972;BC069626;BC069651;BC121120;BC121121;CB124867;CH471121;DQ022681;HQ692838;HQ692839;HQ692840;HQ692841;HQ709178;NG_029113;NM_001077469;NM_001077470;NM_001077471;NM_001077472;NM_001077473;NM_001077474;NM_001077475;NM_001077476;NM_001077477;NM_001077478;NM_001077479;NM_001077480;NM_001077481;NM_001077482;NM_005122 AAH69626;AAH69651;AAI21121;AAI21122;AAT47159;AAT47160;AAT47161;AAT47162;AAT47163;AAT47164;AAT47165;AAT47166;AAT47167;AAT47168;AAT47169;AAT47170;AAT47171;AAT47172;AAT47173;AAT47174;AAT47175;AAT47176;AAT47177;AAT47178;AAT47179;AAT47180;AAY56401;ADQ31935;ADZ17349;ADZ17350;ADZ17351;ADZ17352;ADZ17385;BAH02293;BAH14039;BAH14053;BAH14579;EAW52608;EAW52609;EAW52610;NP_001070937;NP_001070938;NP_001070939;NP_001070940;NP_001070941;NP_001070942;NP_001070943;NP_001070944;NP_001070945;NP_001070946;NP_001070947;NP_001070948;NP_001070949;NP_001070950;NP_005113;Q14994 Hs.349642 1675289;1700380;1770437;1792762;1792764;2169670;2175302;5014051;5021872;5022200;5022651;5093974 A009Z46;D11S2921;D1S3429;D8S2278;G33032;L18426;PMC162252P1;PMC162252P2;RH103810;RH70980;RH71314;sY3084 CAR;CAR1;MB67;MGC150433;MGC97144;MGC97209 OTTHUMP00000032245;OTTHUMP00000032246;OTTHUMP00000217486;OTTHUMP00000217487;OTTHUMP00000217488;OTTHUMP00000217489;OTTHUMP00000217490;OTTHUMP00000217492;OTTHUMP00000217493;OTTHUMP00000217497;OTTHUMP00000217499;OTTHUMP00000217501;OTTHUMP00000217502;OTTHUMP00000217505;OTTHUMP00000217506;OTTHUMP00000217507;OTTHUMP00000217508;OTTHUMP00000217509;OTTHUMP00000217510;constitutive activator of retinoid response;constitutive active receptor;constitutive active response;constitutive androstane nuclear receptor variant 2;constitutive androstane nuclear receptor variant 3;constitutive androstane nuclear receptor variant 4;constitutive androstane nuclear receptor variant 5;constitutive androstane receptor;nuclear receptor subfamily 1 group I member 3;orphan nuclear hormone receptor;orphan nuclear receptor MB67 APPROVED protein-coding ENSG00000143257 7969 04858 603881 REVIEWED 69105 NR1I2 nuclear receptor subfamily 1, group I, member 2 This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008] 3 3 q12-q13.3 120982021 121020022 + 119499331 119537332 + 1580863;6480464 9727070;11891224;9784494;19516190;19470925;19401882;19297428;19232333;19173680;19171678;19144646;19141612;19129222;19124506;19115096;19034627;19011999;19010908;18981011;18831695;18800312;18784074;18765524;18518855;18502461;18391510;18381611;18305375;18305370;18294295;18276839;18268015;18220558;18192894;18095058;18056193;17962194;17925385;17924830;17876342;17828778;17827782;17764444;17761971;17712488;17635106;17576789;17573484;17526937;17507630;17438109;17436120;17429319;17418145;17404718;17327420;17279585;17262809;17088262;17050801;17048007;17028159;16973756;16952547;16857725;16841097;16837625;16834332;16831602;16691293;16608838;16606623;16556603;16507781;16472590;16452398;16328955;16297466;15985196;15933212;15919766;16085054;15772695;15713537;15690482;15630458;15618712;15535420;15489334;15322103;15316010;15252010;14977870;14977869;12920130;12909012;12760308;12644700;12606758;12569201;12485946;12477932;12413960;12397176;12072427;11865669;11668216;11408620;11297522;10473093;9770465;9489701;8125298;20719936;22166712;20531417;20624854;15610065;20518891;18978041;20819778;20836841;20861742;20876786;20970601;20818746;20538721;19913121;20628086;20635135;12578355;14702340;15604093;16219912;19460945;19505191;19593667;19617467;19702932;19739075;19746521;19833192;19842932;19878569;19898482;19902988;19934400;19940802;19958310;20082578;20107201;20171174;20218903;20222094;20346360;20354687;20361990;20379614;20538049;22000295;22750628;16144941;20846001;21329659;21402137;21323950;21532337;21342487;21127053;22829544;22952895;23479137;23562850;23614276;21830270;20413580;21245992;21391917;21517853;22076448;23160821;23525103;21596433;21359593;21292004;21747170;20840328;21733184;21461878;21742782;21805522;21977915;22023334;22285937;21808872;22093699;22185585;22968811;21913896;21918980;21316268;22050110;21954916;22292071;22453193;21438836;22126990;23160820;21988832;22333269;22939624;22453080;23288240 8856 F1D8P9;H0Y8E2;J3KPQ3;Q9UJ26 AB307701;ABBA01061575;ABBA01061576;ABBA01061577;AC069444;AF061056;AF084644;AF084645;AF364606;AJ009936;AJ009937;AK122990;AK223456;AK310789;AMYH01013419;AMYH01013420;AY007189;AY091855;BC017304;CH471052;DQ911122;DQ923326;EF614253;HQ692837;HQ709177;NG_011856;NM_003889;NM_022002;NM_033013 AAC64557;AAC64558;AAD05436;AAG23345;AAH17304;AAK38720;AAK38721;AAK38722;AAM26736;ABJ52965;ABJ52966;ABR09276;ADZ17348;ADZ17384;BAG53837;BAH02292;CAB55489;CAB55490;CAB55491;CAB55492;CAB55493;CAB55494;EAW79537;EAW79538;EAW79539;NP_003880;NP_071285;NP_148934;O75469 Hs.7303 1338401;1658764;1797918;2126725;2138608;2143418;2153505;2191669;5092682 A005P48;AFMA323WF9;D3S3620;G32262;MARC_4339-4340:996679552:1;NR1I3_2131;SHGC-56597;SHGC-77233;STS-T26531 BXR;ONR1;PAR;PAR1;PAR2;PARq;PRR;PXR;SAR;SXR OTTHUMP00000215173;OTTHUMP00000215174;OTTHUMP00000215175;nuclear receptor subfamily 1 group I member 2;nuclear receptor subfamily 1, group 1, member 2;orphan nuclear receptor PAR1;orphan nuclear receptor PXR;pregnane X nuclear receptor variant 2;pregnane X receptor;steroid and xenobiotic receptor APPROVED protein-coding ENSG00000144852 7968 04346 603065 REVIEWED 1344559 NR2C1 nuclear receptor subfamily 2, group C, member 1 This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 12 12 q22 93939802 93991487 - 95414005 95467404 - 1580863;6480464 2597158;17010934;16344560;14521922;12949936;12943985;12615366;12477932;12361719;12093804;12093744;11463856;9795341;9737983;9704569;3421977;9774688;20379614;19204783;21360626;19850743;21900206;21670149 7181 F8W1Q1;H0YHC6;H0YIV1;H9NIM2;H9NIM3;P13056 AB307707;ABBA01053345;ABBA01053346;ABBA01053347;ABBA01053348;AC011598;AK291319;AMYH01004667;BC026074;BC040141;BE676699;CH471054;DB266298;JQ308177;JQ308178;M21985;M29959;M29960;NM_001032287;NM_001127362;NM_003297 AAA36650;AAA36761;AAA36762;AAH40141;ADZ15562;AFF59487;AFF59488;BAF84008;BAH02298;EAW97517;EAW97518;EAW97519;EAW97520;NP_001027458;NP_001120834;NP_003288;P13056 Hs.108301;Hs.707524 1654288;1697358;1855094;1855275;2028990;2144508;2217674 D12S1885;NR2C1_2654;REN85499;RH102177;SHGC-35295;STS-H68838;WI-15851 TR2 OTTHUMP00000243013;OTTHUMP00000243015;OTTHUMP00000243016;TR2 nuclear hormone receptor;nuclear receptor subfamily 2 group C member 1;nuclear receptor subfamily 2, group C isoform;orphan nuclear receptor TR2;testicular nuclear receptor 2 variant 1;testicular nuclear receptor 2 variant 2;testicular receptor 2 APPROVED protein-coding ENSG00000120798 7971 03318 601529 REVIEWED 6778959 NR2F2-AS1 NR2F2 antisense RNA 1 15 q26.2 96826126 96870409 - 14702039;16344560;17554300;22554406 644192 ABBA01032423;AC012409;AC016251;AK000872;AK307134;AMYH01006950;AW451632;CB217374;CF528780;DA627574;NR_102743;NR_102744;XR_109225;XR_111553;XR_172110 Hs.58690;Hs.734208 1656929;2154722 STS-T94368;WI-3675 APPROVED miscrna ENSG00000247809 44222 VALIDATED 1351565 NR2E3 nuclear receptor subfamily 2, group E, member 3 This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 q23 69889948 69897654 + 72102894 72110600 + 1580863;6480464;7240710 10220376;19273793;19139342;19006237;18436841;18294254;15459973;15277507;15190009;12963616;12477932;11773633;11487564;11071390;10965145;10655056;10611353;17982421;17564971;17081983;16225923;15689355;15634773;20591486;17255935;19718767;19823680;19898638;19933183;20212206;15919092;20211142;20801516;21364904;20725840;22605927;22025681;22174013;20301590;22661467;23604511;8889548;23374571;23319000 10002 B6ZGU0;F1D8Q9;Q9Y5X4 AB307710;ABBA01038740;AC104938;AF121129;AF121130;AF148128;AJ276674;AL711747;AMYH01006755;AW080977;BC041421;BU732726;CH471082;HQ692847;NG_009113;NM_014249;NM_016346 AAD28301;AAD28302;AAF22227;AAH41421;ADZ17358;BAH02301;CAB82769;EAW77876;EAW77877;NP_055064;NP_057430;Q9Y5X4 Hs.187354;Hs.636007 1793402;1793404;1793406;1797924;2191209 MARC_16201-16202:1030023389:1;NR2E3_2317;PMC21774P1;PMC21774P2;PMC21774P3 ESCS;MGC49976;PNR;RNR;RP37;rd7 photoreceptor cell-specific nuclear receptor variant 1;photoreceptor-specific nuclear receptor;retina-specific nuclear receptor APPROVED protein-coding 7974 05132 268100;604485;611131 REVIEWED 1347970 NR3C1P1 nuclear receptor subfamily 3, group C, member 1 pseudogene 1 16 q24.2 87500742 87501291 + 2867473;12843156;2867473 2910 ABBA01034330;AC105429;AMYH01007898;NG_029774 GCR2;GCRL;GRLL1;NR3C1P APPROVED pseudo 4592 138060 INFERRED 1346337 NR2E1 nuclear receptor subfamily 2, group E, member 1 6 6 q21 108593955 108616706 + 108487215 108510013 + 1580863;6480464 9628820;19058789;18391013;18205168;17873065;17655765;17054721;16344560;16000615;15489334;14574404;12477932;12079282;11073974;8047143;19555662;20360385;23028043;21135096;21368052;20814749;16481466;20599619;21957244;22290436;22675500 7101 A6PVF6;B6ZGT9;Q6ZMP8;Q9Y466 AB307709;ABBA01026155;AF220532;AF411525;AK131541;AL078596;AMYH01016576;BC028031;CH471051;DA806924;HQ692846;NM_003269;Y13276 AAG31945;AAH28031;AAL05871;ADZ17357;BAD18677;BAH02300;CAA73725;EAW48385;EAW48386;NP_003260;Q9Y466 Hs.157688 1335700;1646978;1797922;1800386;1800894;1800960;1801300;1801470;1807930;1808358;1809536;1809814;1810090;1810394;1810738;1810968;1811126;1811496;1811676;1811994;1812908;1814240;1816966;1817720;1819432;1822210;1823982;1826128;1826744;1830374;1834330;1843008;1957672;1957674;1957676;1957678;1957680;1957682;1957684;1957686;1957688;1957690;1957692;1957694;1957696;1957698;1957700;1957702;1957704;1957706;1957708;1957710;1957712;1957714;1957716;1957718;1957720;1957722;1957724;1957726;1957728;1957730;1957732;1957734;1957736;1957738;1957740;1957742;1957744;1957746;1957748;1957750;1957752;1957754;1957756;1957758;1957760;1957762;1957764;1957766;1957768;1957770;1957772;1957774;1957776;1957778;1957780;1957782;1957784;1957786;1957788;1957790;1957792;1957794;1957796;1957798;1957800;1957802;1957804;1957806;1957808;1957810;1957812;1957814;1957816;1957818;1957820;1957822;1957824;1957826;1957828;1957830;1957832;1957834;1957836;1957838;1957840;1957842;1957844;1957846;1957848;1957850;1957852;1957854;1957856;1957858;1957860;1957862;1957864;1957866;1957868;1957870;1957872;1957874;1957876;1957878;1957880;1957882;1957884;1957886;2212884;2212886;2212888;2212890;2212892;2212894;2212896;2212898;2212900;2212902;2212904;2212906;2212908;2212910;2212912;2212914;2212916;2212918;2212920 D6S1594;ECD01053;ECD01312;ECD01345;ECD01522;ECD01610;ECD04940;ECD05160;ECD05760;ECD05899;ECD06037;ECD06189;ECD06364;ECD06482;ECD06561;ECD06748;ECD06842;ECD07002;ECD07468;ECD08149;ECD09532;ECD09913;ECD10783;ECD12191;ECD13087;ECD14174;ECD14486;ECD16321;ECD18313;ECD22712;NR2E1_2053;REN49703;REN49704;REN49705;REN49706;REN49707;REN49708;REN49709;REN49710;REN49711;REN49712;REN49713;REN49714;REN49715;REN49716;REN49717;REN49718;REN49719;REN49720;REN49721;REN49722;REN49723;REN49724;REN49725;REN49726;REN49727;REN49728;REN49729;REN49730;REN49731;REN49732;REN49733;REN49734;REN49735;REN49736;REN49737;REN49738;REN49739;REN49740;REN49741;REN49742;REN49743;REN49744;REN49745;REN49746;REN49747;REN49748;REN49749;REN49750;REN49751;REN49752;REN49753;REN49754;REN49755;REN49756;REN49757;REN49758;REN49759;REN49760;REN49761;REN49762;REN49763;REN49764;REN49765;REN49766;REN49767;REN49768;REN49769;REN49770;REN49771;REN49772;REN49773;REN49774;REN49775;REN49776;REN49777;REN49778;REN49779;REN49780;REN49781;REN49782;REN49783;REN49784;REN49785;REN49786;REN49787;REN49788;REN49789;REN49790;REN49791;REN49792;REN49793;REN49794;REN49795;REN49796;REN49797;REN49798;REN49799;REN49800;REN49801;REN49802;REN49803;REN49804;REN49805;REN49806;REN49807;REN49808;REN49809;REN49810;RH46630;stSG634165;stSG634167;stSG634168;stSG634169;stSG634170;stSG634171;stSG634172;stSG634173;stSG634174;stSG634175;stSG634176;stSG634177;stSG634178;stSG634179;stSG634180;stSG634181;stSG634182;stSG634183;stSG634184 TLL;TLX;XTLL OTTHUMP00000016940;OTTHUMP00000196345;hTll;nuclear receptor TLX;nuclear receptor subfamily 2 group E member 1;protein tailless homolog;tailes-related receptor;tailless homolog protein-coding ENSG00000112333 7973 07230 603849 VALIDATED 7244940 NR2F1-AS1 NR2F1 antisense RNA 1 12477932;14702039;16344560;23583100 441094 ABBA01069285;ABBA01069286;AC008500;AC012619;AC106818;AC114961;AK095719;AK124699;AK311143;AK311323;AMYH01015482;BC010610;BC018089;BC042879;BC044619;BC048999;BC144330;BC144331;BX647510;DA718791;DB168614;NR_015369;NR_021490;NR_021491 Hs.457407 1669258;1688235;1699080;1700332;1710608;1850350;2018050;2158067 REN79972;RH103116;RH103786;RH66621;RH92161;SHGC-2404;SHGC-84092;WI-16374 miscrna ENSG00000237187 48622 VALIDATED 733507 NR2F6 nuclear receptor subfamily 2, group F, member 6 19 19 19 p13.1 17244237 17257694 - 17203694 17217151 - 17342694 17356151 - 1580863;6480464 9226381;2905047;15489334;15302935;12690040;12477932;10713182;10644740;10318855;21247419;15604093;19505873;21696885;21906983 2063 F1D8R3;M0R175;P10588 AB307712;ABBA01051187;AC010646;AK298764;AK314961;AMYH01009570;BC002669;BC063018;BC084544;CH471106;HQ692851;NM_005234;X12794 AAH02669;AAH63018;AAH84544;ADZ17362;BAG37465;BAG60906;BAH02303;CAA31282;EAW84580;NP_005225;P10588 Hs.466148 1689811;2108845;2136909 NR2F6_3193.2;RH80702;STS-X12794 EAR-2;EAR2;ERBAL2 ERBA-related gene-2;V-erbA-related protein 2;nuclear receptor V-erbA-related;nuclear receptor subfamily 2 group F member 6;v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2 protein-coding 7977 00583 132880 VALIDATED 1348747 NR4A3 nuclear receptor subfamily 4, group A, member 3 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 9 9 q22 101623958 101668994 + 102584137 102629173 + 1580863;6480464 9573341;8570200;8634690;18325999;17981763;17596136;17515897;16945922;16873729;15964844;15949808;15523651;15262426;15164053;14962944;14525795;12543801;11173923;11156374;10602519;10359536;8809112;8614405;7811288;20558821;20659174;19321449;19336002;20411565;20668010;15604093;16223362;19682370;19720740;19727524;19775727;22143616;23247046;21621845;21725049;22569967;21752397;21873782;23462179;23588370;23064961;22789442 8013 Q9UEK3 ABBA01042896;ABBA01042897;AK226108;AL358937;AL359710;AMYH01021566;AMYH01021567;BX649089;CH471105;D78579;D85241;D85242;NG_028910;NM_006981;NM_173199;NM_173200;S81243;U12767;X89894 AAB02581;AAB36006;BAA11419;BAA28608;BAA31221;CAA61984;CAH10551;EAW58915;EAW58916;EAW58917;EAW58918;NP_008912;NP_775291;NP_775292;Q92570 Hs.279522 1645902;1670827;1680639;1791916;1797930 NR4A3_2160;PMC133552P1;RH78307;RH93279;STS-X89894 CHN;CSMF;MINOR;NOR1;TEC OTTHUMP00000022774;OTTHUMP00000022775;OTTHUMP00000022776;chondrosarcoma, extraskeletal myxoid, fused to EWS;mitogen induced nuclear orphan receptor;mitogen-induced nuclear orphan receptor;neuron derived orphan receptor;neuron-derived orphan receptor 1;nuclear hormone receptor NOR-1;nuclear receptor subfamily 4 group A member 3;translocated in extraskeletal chondrosarcoma APPROVED protein-coding ENSG00000119508 7982 02766 600542 REVIEWED 735361 NR2F2 nuclear receptor subfamily 2, group F, member 2 This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 15 15 q26 94674950 94683048 + 96869157 96883492 + 1580863;6480464;6484113 22569225;8530078;1899293;19210544;19154418;19082449;18815287;18798693;18765665;18199540;17455195;15666827;15611122;15489334;15265774;15231748;12843196;12614160;12477932;10744719;10704340;10318855;9826778;9343308;9115274;8910285;1820218;1312668;19505873;22606236;22829776;20351309;19913121;20549515;20585627;20628086;14739255;15604093;16219912;17554300;20147377;22734039;20195529;20211142;21151097;15140878;20386594;23201680;11544252;21549307;21906983;22219177;22242598;22493443;22693611;23136034;21890473;21988832;22178710;23458092 7026 F1D8R0;H3BTC2;P24468 AB307711;ABBA01032422;ABBA01032423;AC016251;AC103746;AF087993;AK298824;AK301595;AK316086;AMYH01006950;AMYH01006951;BC014664;BC033957;BC034585;BC042897;BC106083;BX538114;CH471101;FM208183;HQ692848;HQ692849;HQ692850;HQ709181;M62760;M64497;NG_016753;NM_001145155;NM_001145156;NM_001145157;NM_021005;U60477 AAA21479;AAA86429;AAB09475;AAH14664;AAH42897;AAI06084;ADZ17359;ADZ17360;ADZ17361;ADZ17388;BAG60954;BAG63083;BAH02302;BAH14457;CAR63888;EAX02195;EAX02196;EAX02197;EAX02198;NP_001138627;NP_001138628;NP_001138629;NP_066285;P24468 Hs.347991;Hs.519445 1654803;1797926;1848821;1855448;2154722;2189757;5022741;5491898 D1Bda25;D7S2770;NR2F1;NR2F2_2074;Nr2f2;RH45711;STS-T94368;WI-22254 ARP1;COUP-TFII;COUPTFB;COUPTFII;MGC117452;NF-E3;NR2F1;SVP40;TFCOUP2 ADP-ribosylation factor related protein 1;COUP transcription factor 2;COUP transcription factor II;OTTHUMP00000194781;apolipoprotein A-I regulatory protein 1;apolipoprotein AI regulatory protein 1;chicken ovalbumin upstream promoter transcription factor 2;chicken ovalbumin upstream promoter-transcription factor I;chicken ovalbumin upstream promoter-transcription factor II variant 1;chicken ovalbumin upstream promoter-transcription factor II variant 2;chicken ovalbumin upstream promoter-transcription factor II variant 3 APPROVED protein-coding ENSG00000185551 7976 00139 107773 REVIEWED 732429 NR2F1 nuclear receptor subfamily 2, group F, member 1 5 5 q14 92944799 92955544 + 92919043 92929788 + 1580863;6480464 12972613;8530078;2739739;19112178;18199540;17674191;17009409;15489334;15157742;12551987;12477932;12093745;11934895;11811951;11043578;10744719;10656770;10652338;10644726;10620335;10207062;9388268;8798567;2905047;1517211;1331778;1311101;19505873;15604093;16219912;19526345;19578876;20007910;20111703;20306291;10644740;15140878;15849318;21139048;21890473;21900206;21906983;22357705;19322201;22952844 7025 P10589 ABBA01069283;ABBA01069284;ABBA01069285;AC106818;AMYH01015482;AMYH01015483;AMYH01015484;BC004154;BC017493;CH471084;HQ709180;HQ709182;HQ709183;NM_005654;X12795;X16155 AAH04154;AAH17493;ADZ17387;ADZ17389;ADZ17390;CAA31283;CAA34277;EAW96008;EAW96009;NP_005645;P10589 Hs.519445 2132049;2217676;5022741 NR2F1;NR2F1_3233;SHGC-12323 COUP-TFI;EAR-3;EAR3;ERBAL3;NR2F2;SVP44;TCFCOUP1;TFCOUP1 COUP transcription factor 1;COUP transcription factor I;COUP-TF I;COUP-TF1;OTTHUMP00000147621;V-erbA-related protein 3;chicken ovalbumin upstream promoter-transcription factor I;transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3) protein-coding ENSG00000175745 7975 00584 132890 PROVISIONAL 733363 NR3C2 nuclear receptor subfamily 3, group C, member 2 This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q31.1 149219370 149582973 - 148999915 149363672 - 1600927;1600930;1580863;6480464;6907045;7240710 16972228;9662404 22407082;15126537;15120696;15117605;15080790;14617569;14500761;12788847;12679457;12544508;12538613;12483305;12477932;12125101;12015312;11960770;11711524;11675945;11350956;11344206;11154266;11134129;10936692;10935545;10884226;10760050;10691735;10391210;9724527;9392437;9141514;9115274;8612804;15192075;15171715;7495694;2558856;2162806;1655735;11518808;3037703;19344080;19325532;19260141;19086053;18981328;18819053;18468809;18467630;18443236;18408592;18184651;18182467;17724138;17703341;17675581;17670905;17334527;17314004;17311890;17287415;17133261;17105732;17018659;16964418;16954160;16516149;16446868;16344560;16275882;16145013;16061183;15967794;15939817;15908963;15882548;15824464;15761031;15761029;15737989;15718497;15713533;15666800;21145461;21664417;21723914;21767600;21771637;21784126;21784127;21820032;21820034;21820485;21827828;21930186;21945603;22155566;19648477;19648480;20299606;21482958;12644298;14702039;15604093;19477942;19541744;19665310;19850283;19944075;19955850;20030467;20054001;20379614;20486282;20528958;8889548;9618022;21664233;19912655;20357208;20855654;19913121;20484457;20628086;20680430;20832946;20884124;21036197;21125974;21164267;23026756;21159846;21354648;20535141;21441311;21195417;21095064;22326264;21654856;21903996;21747041;22494929;21718752;22589738;21531081;22234470;22843494;23204024;20661446;21988832;22832354;22939624;23296296;23291589;23408906;22723323;23041672;22042931;23040111 4306 B0ZBF6;B0ZBF7;B0ZBF8;P08235 AB209056;ABBA01070063;ABBA01070064;AC069272;AC093678;AC093881;AC104691;AC106889;AJ315514;AJ315515;AK123047;AK304318;AMYH01014605;AMYH01014606;AMYH01014607;BC111758;BQ184536;CH471056;DB061545;DB232659;EU326312;FJ515829;M16801;NG_013350;NM_000901;NM_001166104;U48393;X97925 AAA59571;AAI11759;AAY41033;ACA05923;ACA05924;ACA05926;ACS13715;ACS13716;ACS13718;BAD92293;BAG65170;CAC67405;CAC67406;EAX05008;NP_000892;NP_001159576;P08235 Hs.163924 1645446;1648266;1661361;1672656;1694462;1696056;1719401;1742197;1753677;1797928;1849363;2117144;2135473;2155872;2190771 D4S3136;D4S881;DXYS12Y;G34293;G42952;GDB:193631;NR3C2;NR3C2_2289;RH123481;SHGC-107594;SHGC-50219;SHGC-51231;SHGC-59557;SHGC-83211;SHGC4-1531 FLJ41052;MCR;MGC133092;MLR;MR;NR3C2VIT OTTHUMP00000220257;OTTHUMP00000220259;OTTHUMP00000220260;OTTHUMP00000220261;aldosterone receptor;mineralocorticoid receptor;mineralocorticoid receptor 1;mineralocorticoid receptor delta APPROVED protein-coding ENSG00000151623 7979 02991 177735;600983;605115 REVIEWED 3302160 NRADDP neurotrophin receptor associated death domain, pseudogene The neurotrophin receptor alike death domain proteins belong to the death domain superfamily and are involved in mediating apoptosis. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] 3 3 3 p21.31 46991549 46993474 + 47028036 47029961 + 47053032 47054957 + 6480464 12095158;12728256;18085818;20210993 100129354 ABBA01024708;AC094020;AMYH01013140;BX117367;NR_024046 Hs.201522 APPROVED pseudo 19337 VALIDATED 732751 NR4A1 nuclear receptor subfamily 4, group A, member 1 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 12 12 q13 50731458 50739554 + 52416616 52453291 + 1580863;6480464;6907045 18305892;18835031;2626032;11274386;19321449;19213954;19148494;18713840;18292087;18248459;18202854;18079734;18073527;17761950;17709892;17543302;17434920;17297306;17139261;17023523;16904076;16873729;16847753;16723716;16713569;16595694;16480977;16467267;16434970;16264271;16223362;16082387;15964844;15871945;15625237;15591535;15509776;15498889;15494375;15489334;15486232;15466594;17543277;17515897;15459248;15385570;15292355;15208301;15159280;15033715;14980220;14769794;14729605;14702039;14678255;14612408;14592536;14525795;14500374;12947120;12842839;12506026;12477932;12376465;12153396;12082103;12046067;12032831;11983153;11883936;11700033;11559707;10947977;10777386;8227042;7890657;2555161;2283997;1651101;14751250;18305400;16169070;20558821;20659174;20677014;20438716;20217038;20411565;20668010;19675165;19751824;19789410;20010315;20023005;20059973;20083153;20525362;21146499;20847229;16002533;20642837;22143616;18059339;23247046;23315169;21621845;21726557;21659476;21693764;21900206;21906983;22049082;21986938;22551568;22159226;21752397;22081070;22628435;22761936;20809206;22427340;18654987;21480782;22301783;22470048;22983157;23043761;18985028;20195357;21963094;21988832;23071566;23088713;22789442 3164 F5GXF0;F8VVX9;H3BPN8;H3BQG5;H3BSB9;H3BSM8;H3BT85;P22736;Q15627;Q53Y00 AB307717;ABBA01031623;ABBA01031624;ABBA01031625;AC025259;AK075054;AK075491;AK096816;AK131566;AK297526;AK314437;AL702926;AL831844;AMYH01004471;BC016147;BG057763;BT007144;CH471111;CR456704;D49728;D85245;HC025814;HQ692855;L13740;NM_001202233;NM_002135;NM_173157;U17590 AAA36763;AAH16147;AAP35808;ABM82060;ABM85239;ADZ17366;BAA08565;BAA12746;BAD18699;BAG37048;BAG59929;BAH02308;CAD38550;CAG32985;CBH19838;EAW58222;EAW58223;EAW58224;EAW58225;EAW58226;EAW58227;EAW58228;NP_001189162;NP_002126;NP_775180;P22736 Hs.524430;Hs.670088 1335468;1681827;1791426;5037552 D12S1712;D8S2279;PMC109903P1;RH80778 GFRP1;HMR;MGC9485;N10;NAK-1;NGFIB;NP10;NUR77;TR3 OTTHUMP00000197256;OTTHUMP00000241625;OTTHUMP00000241626;ST-59;TR3 orphan receptor;early response protein NAK1;growth factor-inducible nuclear protein N10;hormone receptor;immediate early gene transcription factor ngfi-b;nerve growth factor IB nuclear receptor variant 1;nuclear hormone receptor NUR/77;nuclear receptor subfamily 4 group A member 1;orphan nuclear receptor HMR;orphan nuclear receptor TR3;steroid receptor TR3;testicular receptor 3 APPROVED protein-coding ENSG00000123358 7980 00744 139139 REVIEWED 732227 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011] 5 5 q31.3 142637689 142795270 - 142657496 142815077 - 61055;1580790;1331525;1580863;1601498;2308941;4892115;4892123;4892205;4892118;4892117;4892120;4892208;4892206;4892201;4892330;4892564;4892331;4892333;4892609;4892318;4892608;4892328;4892317;4892567;4892594;4892568;4892311;4892566;4892593;4892607;4892316;4892319;4892561;5144125;5686336;5686299;6480464;5686290;5490118;5686281;6484113;7174722;7174719;7174718;7174721;7174715;7174713;7174712;7174717;7174727;7174729;7174733;7174735;7174741;7174716;7174723;7174714;7174728;7174734;7174711;7174720;7240710 9199194;12623935;15118671;16725041;17272666;17344647;20113635;20858282;12714641;17292727;20388836;20674672;20723946;17467318;18047640;9926163;17322387;16806572;15295049;20450542;15611350;18396779;21057058;4028852;18799869;21113676;18448865;2255800;20185258;15635817;19396522;19216853;15640646;16610357;21584742;21751079;21837980;21724913;22050960;10471508;15833166;17890747;10959477;19635986;21509671;21737535;18246526;21531004;20419394;18181043;23152847;22176470;18591458;10356629;20659135;20727335;17880936;21787473;11990926 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0036846;20093418;20124551;20137628;20156337;20170710;20199670;20219685;20335448;20351714;20371666;20376328;20403506;20472303;20503287;20547006;9128241;21971518;22771494;22798432;22810058;22879541;11358809;21148795;21190962;6261922;6266631;7491111;7796394;20440229;21093928;21084380;21147850;10659697;10958685;15016838;21164266;21474440;21127044;20399565;23055525;23178279;22533504;22781842;23222642;21234764;21354648;21438141;20308989;21633323;21473041;21641918;21521940;21511880;21438768;21521257;21646426;21664385;15604093;21883217;21527497;21760925;20398657;22851186;22863883;23125313;19875381;23028665;23033538;23033539;21355091;17641689;21750107;21900206;21930780;21477816;21764460;21853119;21868756;22018181;21980503;23440419;20488636;21912096;21984896;22003412;22048965;23392094;23493285;11591700;22487832;22441538;21531081;21693764;22068557;22177699;22085474;19471022;21742609;21789663;21803757;22185489;22205602;17081986;18562626;19322201;22357529;22427805;22008062;22015776;22032841;22088926;22174376;22295073;22371499;22570980;15657031;21881570;21945289;21995950;22457708;22698871;10731636;22855579;23196783;23297131;23307810;23325854;23393177;17003263;22507373;23123359;23132854;23212335;23239757;18511904;23127816;23426617;23228967;23334186;23204024;23428870;22516993;22801563;23209664;23329746;22576823;22587831;20195357;21788965;21963094;21988832;22425674;22812453;22832351;22846929;9920895;23072594;22848740;22366879;22444201;23073785;23151527;23239753;22922069;23046934;19275580;19275583;19275585;19458171;19692572;20012529;20347598;20446002;21489275;21730049;22516378;22587663;22592921;8089152;22773829 2908 B7Z7I2;D6RDA9;E5KQF5;E5KQF6;F1D8N4;P04150;Q3MSN4 AA737284;AB307716;ABBA01026362;ABBA01026363;AC004782;AC005601;AC010284;AC091925;AF304129;AF395116;AJ877166;AJ877167;AJ877168;AJ877169;AJ877170;AJ877171;AJ877172;AJ888004;AK223594;AK302050;AK314789;AM183262;AMYH01015669;AMYH01015670;AY436590;BC015610;BF244382;BF966114;BX640610;BX648553;CA425706;CH471062;CS542423;EU332858;FB571449;FB571451;FB571453;FB571455;FB571457;FB571459;FB571461;HQ205546;HQ205547;HQ205548;HQ205549;HQ205550;HQ205551;HQ205552;HQ205553;HQ205554;HQ205555;HQ205556;HQ205557;HQ205558;HQ205559;HQ205560;HQ205561;HQ205562;HQ205563;HQ205564;HQ205565;HQ205566;HQ205567;HQ205568;HQ205569;HQ205570;HQ205571;HQ205572;HQ205573;HQ205574;HQ205575;HQ205576;HQ205577;HQ205578;HQ205579;HQ205580;HQ205581;HQ205582;HQ205583;HQ205584;HQ205585;HQ450643;HQ450644;HQ692822;JN797823;JN797824;M69104;NG_009062;NM_000176;NM_001018074;NM_001018075;NM_001018076;NM_001018077;NM_001020825;NM_001024094;NM_001204258;NM_001204259;NM_001204260;NM_001204261;NM_001204262;NM_001204263;NM_001204264;NM_001204265;S68378;U01351;U25029;U80946;U80947;X03225;X03348 AAA16603;AAA16604;AAA88049;AAB20466;AAB64353;AAB64354;AAC34207;AAD14820;AAH15610;AAQ97180;ABY87547;ABZ92006;ADP91134;ADP91135;ADP91136;ADP91137;ADP91138;ADP91139;ADP91140;ADP91141;ADP91142;ADP91143;ADP91144;ADP91145;ADP91146;ADP91147;ADP91148;ADP91149;ADP91150;ADP91151;ADP91152;ADP91153;ADP91154;ADP91155;ADP91156;ADP91157;ADP91158;ADP91159;ADP91160;ADP91161;ADP91162;ADP91163;ADP91164;ADP91165;ADP91166;ADP91167;ADP91168;ADP91169;ADP91170;ADP91171;ADP91172;ADP91173;ADP91174;ADP91175;ADP91176;ADP91177;ADP91178;ADP91179;ADP91180;ADP91181;ADP91182;ADP91183;ADP91184;ADP91185;ADP91186;ADP91187;ADP91188;ADP91189;ADP91190;ADP91191;ADP91192;ADP91193;ADP91194;ADP91195;ADP91196;ADP91197;ADP91198;ADP91199;ADP91200;ADP91201;ADP91202;ADP91203;ADP91204;ADP91205;ADP91206;ADP91207;ADP91208;ADP91209;ADP91210;ADP91211;ADP91212;ADP91213;ADP91214;ADP91215;ADP91216;ADP91217;ADP91218;ADP91219;ADP91220;ADP91221;ADP91222;ADP91223;ADP91224;ADP91225;ADP91226;ADP91227;ADP91228;ADP91229;ADP91230;ADP91231;ADP91232;ADP91233;ADP91234;ADP91235;ADP91236;ADP91237;ADP91238;ADP91239;ADP91240;ADP91241;ADP91242;ADP91243;ADP91244;ADP91245;ADP91246;ADP91247;ADP91248;ADP91249;ADP91250;ADP91251;ADP91252;ADP91253;ADZ17333;AED99114;AED99115;AFA52009;AFA52010;BAD97314;BAH02307;BAH13618;CAA26976;CAA27054;CAE45716;CAI46893;CAI46894;CAI46895;CAI46896;CAI46897;CAI46898;CAI46899;CAI59612;CAJ65924;CAM91161;CAR95142;CAR95143;CAR95144;CAR95145;CAR95146;CAR95147;CAR95148;EAW61870;EAW61871;EAW61872;EAW61873;NP_000167;NP_001018084;NP_001018085;NP_001018086;NP_001018087;NP_001018661;NP_001019265;NP_001191187;NP_001191188;NP_001191189;NP_001191190;NP_001191191;NP_001191192;NP_001191193;NP_001191194;P04150 Hs.122926 1649599;1661680;1693292;1701214;1729005;1748833;1749335;1770311;1771053;1780564;1780688;1789132;1794884;1796422;2118811;2129642;2132734;2166900 D5S1871;D5S2378;D5S2472;G42349;G65702;L31444;NR3C1_1004;Nr3c1;PMC64995P2;RH104235;RH16558;RH68907;SHGC-110504;SHGC-111096;SHGC-58162;STS-U25029;bac51148T;bac51616T GCCR;GCR;GR;GRL OTTHUMP00000160084;OTTHUMP00000160085;OTTHUMP00000222851;OTTHUMP00000222854;OTTHUMP00000222855;OTTHUMP00000222858;glucocorticoid nuclear receptor variant 1;glucocorticoid receptor;nuclear receptor subfamily 3 group C member 1;nuclear receptor subfamily 3 group C member 1 variant DL-1;nuclear receptor subfamily 3 group C member 1 variant NS-1;nuclear receptor subfamily 3, group c, member 1 2289514;2289517 BW455_H;BW456_H APPROVED protein-coding ENSG00000113580 7978 00679 138040 REVIEWED 68499 NR5A2 nuclear receptor subfamily 5, group A, member 2 1 1 q32.1 198263393 198413175 + 199996770 200146552 + 1580863;6480464;6907045 22504882;9786908;12040021;16289203;19022561;19015525;18665078;18508634;18410128;18385139;18270374;18191017;17977826;17952562;17910058;17522048;17095585;16469397;16450584;16439367;16282330;16091743;15963945;15923626;15897460;15723037;15707893;15613430;15218078;15205472;15181096;15143151;15121760;15117876;20607599;21614002;14671206;12972592;12853459;12852843;12820970;12477932;12208674;11927588;11668176;11595170;11564608;11030332;10359768;9858833;8938589;7680097;12198243;15327767;14728801;19913121;20628086;14701856;14963109;15143342;15604093;16271724;17664281;18029348;19264593;19359379;19629617;20101243;20133449;20159957;20379614;20817789;16712791;21129436;23038264;20375098;21258413;21262773;21392518;20516075;17036045;21536586;20811994;21949357;21990348;21554248;21566081;22048972;22187462;22125638;17895379;22359603;23471216;23637637;23128233;19692572;23000165 2494 B4E2P3;E9PQH2;F1D8R9;H0Y328;H0Y7S7;O00482;Q9UEC0 AB019246;AB307719;ABBA01027556;ABBA01027557;AC096633;AF049102;AF112344;AF124247;AF146343;AF190464;AF228413;AF319643;AK304344;AK304365;AK308446;AK316513;AMYH01001634;BC027893;BC118571;BC118652;CA776772;CB162803;CH471067;HQ692857;NM_001276464;NM_003822;NM_205860;U80251;U93553 AAC78727;AAD03155;AAD03248;AAD26565;AAD37378;AAG17124;AAG17125;AAI18572;AAI18653;AAL37171;ADZ17368;BAA34092;BAG65188;BAG65205;BAH02310;BAH14884;EAW91305;EAW91306;EAW91307;EAW91308;NP_001263393;NP_003813;NP_995582;O00482 Hs.33446 1334833;1337512;1645535;1689985;1723215;1793056;1848312;2124189;2131393;2156702;2178444;5093732 A009V39;AFM292vd5;D1S2622;D1S2817;G30215;G32891;PMC193920P3;RH122291;RH94232;SHGC-76105;SHGC-76109;SHGC-76125 B1F;B1F2;CPF;FTF;FTZ-F1;FTZ-F1beta;LRH-1;LRH1;hB1F;hB1F-2 CYP7A promoter-binding factor;OTTHUMP00000033644;OTTHUMP00000033646;alpha-1-fetoprotein transcription factor;b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus;fetoprotein-alpha 1 (AFP) transcription factor;hepatocytic transcription factor;liver nuclear receptor homolog-1 variant 2;liver receptor homolog 1;liver receptor homolog-1;nuclear receptor NR5A2;nuclear receptor subfamily 5 group A member 2 protein-coding ENSG00000116833 7984 06830 604453 VALIDATED 732028 NR4A2 nuclear receptor subfamily 4, group A, member 2 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 q22-q23 156889195 156897446 - 157180944 157189287 - 1358553;1580863;6480464 11914402 22024154;22514272;22764233;7877627;19494806;19453261;19429166;19352218;19224617;19156841;19074857;19065535;18937842;18684475;18577687;18292087;18242186;18195715;18057194;17728669;17709391;17681692;17671512;17574328;17427185;17283078;17081983;17032747;16977628;16873729;16806233;16532445;16477036;16344560;16320253;16293616;15964844;15635701;15635645;15548686;15489334;15486232;15450088;15390059;15292355;15276233;15211629;15197702;15184637;15018843;14988426;14671317;14559918;14525795;12875905;12852843;12827450;12815740;12774125;12756136;12694388;12627459;12564761;12496759;12477932;11959923;11884470;11840500;11803525;10216262;10216261;8125298;7758108;7706727;7705655;15961999;18463503;19913121;20560679;20628086;20659174;19144721;17043312;17184956;21102462;20339536;15604093;16223362;18583979;19549529;19569046;19570744;19671681;19692620;19732956;19861119;20016108;20049900;20421523;20301402;22143616;21299892;22066143;21468021;20829434;21757690;21979916;23066323;21936000;21621845;21826669;22230598;19322201;22275273;22309633;20301387;21480782;20195357;23283970;22789442;22800541 4929 C9IYM5;C9J8W4;C9JWQ1;E9PBQ4;F1D8N6;F5H4G9;F8W6I3;H7BZ00;P43354;Q53EL4;Q6NXU0 AB017586;AB019433;ABBA01004829;AC074099;AK223625;AK291456;AK299439;AK309786;AMYH01011187;BC009288;BC066890;BM922519;CH471058;DA093733;FJ643484;FJ643485;HI574334;HQ692824;HQ709176;NG_011821;NM_006186;S77154;X75918 AAB33999;AAH09288;AAH66890;AAY24203;ACE87072;ACE87753;ACN32470;ACN32471;ADZ17335;ADZ17383;BAA75666;BAA77328;BAD97345;BAF84145;BAH13033;CAA53518;CBX47656;EAX11454;EAX11455;NP_006177;P43354 Hs.563344 1646178;1791428;2150793;5017925 D2S2729;G15958;Nr4a2;PMC109903P2 HZF-3;NOT;NURR1;RNR1;TINUR NGFI-B/nur77 beta-type transcription factor homolog;OTTHUMP00000162787;OTTHUMP00000204451;OTTHUMP00000204707;OTTHUMP00000209445;OTTHUMP00000209447;OTTHUMP00000209457;OTTHUMP00000209459;T-cell nuclear receptor NOT;immediate-early response protein NOT;intermediate-early receptor protein;nuclear receptor related 1;nuclear receptor subfamily 4 group A member 2;nur related protein-1, human homolog of;orphan nuclear receptor NR4A2;orphan nuclear receptor NURR1;transcriptionally inducible nuclear receptor related 1;transcriptionally-inducible nuclear receptor APPROVED protein-coding ENSG00000153234 7981 03493 601828 REVIEWED 7175172 NRBF2P1 nuclear receptor binding factor 2 pseudogene 1 18 q12.2 33421545 33423389 + 648532 ABBA01022443;AC090229;AMYH01008938;NG_006647 pseudo 44604 INFERRED 7175200 NRBF2P2 nuclear receptor binding factor 2 pseudogene 2 3 p 46064604 46066403 + 100114903 ABBA01024719;AC099782;AC133140;AMYH01013130;NG_006645 1735260;1792064 D3S2919E;PMC135988P13 pseudo 44605 INFERRED 7175486 NRBF2P3 nuclear receptor binding factor 2 pseudogene 3 1 p13.3 111390195 111391694 - 643232 ABBA01068394;AL354713;AMYH01000945;NG_006643 1778440 AL009922 pseudo 44606 INFERRED 7176959 NRBF2P4 nuclear receptor binding factor 2 pseudogene 4 8 q23.1 108995197 108996994 + 728381 ABBA01037700;AC025508;AMYH01018956;AP003479;NG_006642 pseudo 44607 INFERRED 7176761 NRBF2P5 nuclear receptor binding factor 2 pseudogene 5 10 p 5817797 5820737 + 100118954 ABBA01034771;AL596094;AMYH01002002;NG_006646 pseudo 44683 INFERRED 1345014 NR6A1 nuclear receptor subfamily 6, group A, member 1 This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013] 9 9 q33.3 126324524 126573397 - 127284703 127533576 - 1580863;6480464 9134503;15489334;15456763;12606326;12477932;12381721;12080054;11969338;11387038;10940306;10524192;9858592;9846950;9537518;9177477;9099702;8982251;20583170;16169070;17416745;20379614;21056546;23532770 2649 C9JDI9;F1D8S0;Q15406 AA467752;ABBA01043750;ABBA01043751;ABBA01043752;ABBA01043753;ABBA01043754;AF004291;AL158075;AL354928;AL354979;AL669818;AMYH01021708;BC030600;BC042395;BC042406;CH471090;HQ692858;HQ709185;NM_001278546;NM_001489;NM_033334;S83309;U80802 AAB50876;AAB96828;AAC52054;AAH30600;ADZ17369;ADZ17392;EAW87593;EAW87594;EAW87595;NP_001265475;NP_001480;NP_201591;Q15406 Hs.20131;Hs.586460 1337258;1672320;1687453;1716363;1777310;1853208;1853455;2139818;7186296 AFMA212WE1;D9S1840;RH121360;RH91255;SHGC-34240;SHGC-9435;STS-X99975;WI-11569 GCNF;GCNF1;NR61;RTR;hGCNF;hRTR OTTHUMP00000022112;OTTHUMP00000215858;OTTHUMP00000215859;OTTHUMP00000215861;germ cell nuclear factor;germ cell nuclear factor variant 1;hGCNF;hRTR;nuclear receptor subfamily 6 group A member 1;retinoic acid receptor-related testis-associated receptor;retinoid receptor-related testis-specific receptor APPROVED protein-coding ENSG00000148200 7985 04147 602778 REVIEWED 68493 NR5A1 nuclear receptor subfamily 5, group A, member 1 The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008] 9 9 q33 126283336 126309520 - 127243515 127269699 - 1598967;1580863;6480464;7240710 11932325 17664281;8205615;10369247;9590178;10567391;19549922;19439508;19246354;19237537;19022561;19001523;18984668;18974272;18824868;18665078;18653709;18579725;18182853;18165439;17975261;17940071;17901130;17786540;17761949;17694559;17520059;17519303;17488792;17331471;17226773;16887917;16834661;16816804;16709599;16684822;16595694;16564598;16500365;16469813;16127213;15897460;15879363;15831526;15707893;15666825;15579738;15546904;15489334;15471945;15388788;15379426;15261303;15192080;15044589;14702039;14623279;14580722;14555713;12907682;12843196;12782406;12732652;12730328;12727988;12651892;12554773;12477932;12161505;12101186;12083815;12083805;11932209;11897684;11886523;11738790;11592817;11574675;11518799;11479297;11459805;11071856;11038323;10919277;10684809;10478848;10446911;10369682;10230405;9774680;9328345;9238716;9183568;9002548;8964846;8806624;7789992;7629233;7479914;12861022;11713202;12920234;21087664;22715467;19875956;20601698;20207836;20394914;20453312;20887963;22218443;10848616;12917325;14701856;14963109;16488887;17474147;19692572;19849982;19878766;19930843;20026603;20045459;20080844;20133449;20302644;20660055;20211142;21412441;21467194;21693691;22427816;20498720;22951804;21239516;20861607;21163476;21163858;21078366;21111025;21129436;22553814;10628748;21164257;22927646;21242195;21081692;21324456;22907560;21775434;22024498;22028768;22100173;22549935;21926385;19322201;22474171;23154282;23471216;17190602;23637637;23153500;23543655;23044873;20875752;23158211 2516 F1D8R8;Q13285;Q5T6F6;Q5T6F7 AB009577;AB307718;ABBA01043749;ABBA01043750;AK090858;AL137846;AL354979;AMYH01021707;AMYH01021708;AY542548;BC032501;CH471090;D88155;HQ692856;HQ709184;NG_008176;NM_004959;U32592;U76388 AAA75332;AAB53105;AAH32501;AAS48621;ABZ92004;ADZ15404;ADZ17367;ADZ17391;BAA13546;BAB18655;BAH02309;EAW87591;NP_004950;Q13285 Hs.495108 AD4BP;ELP;FTZ1;FTZF1;POF7;SF-1;SF1;SPGF8;SRXY3 OTTHUMP00000022104;STF-1;adrenal 4 binding protein;adrenal 4-binding protein;fushi tarazu factor homolog 1;nuclear receptor AdBP4;steroid hormone receptor Ad4BP;steroidogenic factor 1;steroidogenic factor 1 nuclear receptor;steroidogenic factor-1 APPROVED protein-coding ENSG00000136931 7983 01702 184757;612964;612965;613957 REVIEWED 1604888 NRARP NOTCH-regulated ankyrin repeat protein 9 9 9 q34.3 110710036 110715958 - 139314755 139316524 - 140194083 140196703 - 6480464 12477932;17207965;16712791;20098747;19154719 441478 Q7Z6K4 ABBA01022756;AMYH01021898;AMYH01021899;BC053618;BX255925;CB066921;CB132749;CH471090;CK819901;NM_001004354 AAH53618;ADQ33074;EAW88380;NP_001004354;Q7Z6K4 Hs.535075;Hs.732282 2132928 A004Q02 MGC61598 OTTHUMP00000209271;notch-regulated ankyrin repeat-containing protein protein-coding ENSG00000198435 33843 17564 VALIDATED 1315517 NRAP nebulin-related anchoring protein 10 10 10 q24-q26 109076182 109151224 - 115338573 115413795 - 115348583 115423829 - 6480464 8681137;9339382;16381901;15967462;15489336;15489334;15164054;14702039;12789664;12477932;11230166;11076863;10320340;9295142;12692149;16385451;20379614;20808825;19616115;16344560 4892 B1ANW7;Q8TCH0 ABBA01062992;AF542553;AK056605;AK056969;AK096875;AK096886;AL390197;AL831980;AL832025;AL832330;AL832457;AMYH01003081;AY081943;AY177620;AY177621;BC005933;BC017866;BC058825;BC070130;BC126407;BC143751;BX640682;BX640730;BX641052;BX647658;CH471066;DA564310;F30818;NM_001261463;NM_006175;NM_198060;U96486 AAC51786;AAH05933;AAH17866;AAH58825;AAH70130;AAI26408;AAI43752;AAL99185;AAO47073;AAO47074;AAQ09536;BAB71231;BAB71328;BAC04884;BAG53387;CAD38623;CAD89899;CAD89910;CAD89998;CAE45811;CAE45846;CAE46027;CAL37520;CAL38225;CAL38407;CAL38670;EAW49499;EAW49500;EAW49501;EAW49502;EAW49503;EAW49504;NP_001248392;NP_006166;NP_932326;Q86VF7 Hs.268788 1722027;1727355;1752227;1779412;1782126;2122710;2133331;2155017;2158680;2178400;2182401;2219114;5014506 A007I48;D10S2159;G17458;G59900;G63085;HABP2__6689;RH65730;RH70383;SHGC-106161;SHGC-153403;SHGC-155296;STS-N38956;WIAF-1676 N-RAP N-RAP;OTTHUMP00000020502;OTTHUMP00000020504;nebulin-related-anchoring protein protein-coding ENSG00000197893 7988 04189 602873 VALIDATED 1346110 NRBF2 nuclear receptor binding factor 2 10 10 10 q21.3 58160328 58182105 + 64563013 64584792 + 64893007 64914786 + 61677;1580863;6480464 10786636 15610520;15489334;14702039;12477932;11256614;11230166;8125298;7566098;17207965;20098747;20562859;22001757 29982 B4DWS0;Q96F24 ABBA01019496;AF267866;AK054957;AK225256;AK225257;AK301656;AL136656;AL590502;AMYH01002777;AU310836;AY267839;AY267840;BC001345;BC011707;CH471083;NM_030759 AAG44735;AAH11707;AAP03081;AAP03082;ACE86858;ACE87545;ADQ31828;BAB70833;BAG63132;CAB66591;EAW54240;EAW54241;NP_110386;Q96F24 Hs.449628 1735260;2110605;2170243;5124988;5125011 D10S2278;D3S2919E;NRBF2_9622;RH64711;RH91167 COPR1;COPR2;DKFZp564C1664;FLJ30395;NRBF-2 OTTHUMP00000019676;comodulator of PPAR and RXR;comodulator of PPAR and RXR 1;comodulator of PPAR and RXR 2;nuclear receptor binding factor-2;nuclear receptor-binding factor 2 protein-coding ENSG00000148572 19692 11401 VALIDATED 1351329 NRBP2 nuclear receptor binding protein 2 8 8 8 q24.3 141228817 141236205 - 144987904 144996188 - 144915755 144923146 - 6480464 18619852;15498874;15489334;14702039;12477932 340371 D3DWK9;E9PR11;H0YCB1;Q9NSY0 ABBA01005239;AC105049;AC234917;AF318376;AI094905;AK094017;AK293943;AK308967;AL137662;AL834530;AMYH01019117;AMYH01019118;AY277601;BC037396;BC071605;BC113873;BC114481;CH471162;CR457350;NM_178564 AAI13874;AAL55883;AAQ18040;BAG52798;BAG57320;CAB70864;CAD39186;CAG33631;EAW82178;EAW82179;EAW82180;EAW82181;EAW82182;EAW82183;NP_848659;Q9NSY0 Hs.521926 5019064 G44304 DKFZp434P086;MGC138699;TRG16;pp9320 OTTHUMP00000228657;nuclear receptor-binding protein 2;transformation-related protein 16 protein-coding ENSG00000185189 19339 14838 VALIDATED 6481421 NREP-AS1 NREP antisense RNA 1 5 111248205 111353003 + 100873948 ABBA01069063;ABBA01069064;AC025182;AC025450;AMYH01015547;BX114072;NR_046678 Hs.147716 APPROVED miscrna ENSG00000250095 40780 VALIDATED 1354113 NRBP1 nuclear receptor binding protein 1 2 2 2 p23 27497648 27511300 + 27504977 27518630 + 27651473 27665126 + 6480464 11956649;15084397;17353931;17052710;16964243;16189514;15815621;15489334;15345747;14702039;12477932;12176995;11230166;10843813;8125298;1048605;16169070;22863883;21900206;21382349;23000965;23505323;21139048;21890473;18187417;22510880;22473923 29959 C9JDW7;C9JHZ6;F8W6G1;Q9UHY1 ABBA01045208;AC074117;AF113249;AK001946;AK027538;AK092860;AK122664;AK130619;AK223136;AK225540;AK301345;AL136682;AMYH01010196;AMYH01010197;BC001221;BQ225378;BQ949042;CH471053;NM_013392 AAF21967;AAH01221;AAY14847;ABM86741;ABW03817;BAA91993;BAB55185;BAD96856;BAG53652;BAG62893;CAB66617;EAX00578;EAX00579;EAX00580;NP_037524;Q9UHY1 Hs.515876 1734984;2136586 D2S1725E;RH47842 BCON3;FLJ27109;FLJ35541;MADM;MUDPNP;NRBP OTTHUMP00000123427;OTTHUMP00000123428;OTTHUMP00000200794;multiple domain putative nuclear protein;myeloid leukemia factor 1 adaptor molecule;nuclear receptor binding protein;nuclear receptor-binding protein protein-coding ENSG00000115216 7993 05819 606010 VALIDATED 735648 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011] 1 1 p13.2 115051108 115061038 - 115247085 115259515 - 1580863;2314838;2314837;1598680;2303822;2300006;2314836;6480464;5686410;6484113;6907045;7240710 14984964;18334737;11295286;17708355;18706093;19303097;22177953 20012784;11520933;7972015;8493579;9069260;9690470;19492075;19487299;19383313;19351817;19319568;19309322;19190079;19101897;19047918;19037234;18980976;18945298;18814281;18788612;18760455;18701506;18668139;18641128;18632627;18615679;18567617;18559876;18450602;18375819;18323787;18316589;18316586;18310288;18227705;18008004;18006851;18000091;17960171;17949898;17943694;17910045;17900235;17893876;17786355;17712732;17671710;17550846;17517660;17507627;17332249;17297468;17119447;17036375;16847854;16845322;16761621;16573741;16462768;16344560;16142319;16135812;16098042;16076867;16000296;15766527;15761153;15705808;15688405;15674343;15531466;15489334;15474158;15060167;14961576;14737077;14695152;14688017;12783933;12727991;12637339;12483530;12477932;12393454;12230495;12082607;11948427;11524732;11332726;10918068;10783161;10655059;10490827;10412982;9674433;9578425;9488663;8665852;8607982;8280380;7820549;7789166;6616621;6587382;6086315;3887133;3856237;3295562;3276402;3102434;3057505;2998510;2991860;2661017;1970154;1692298;9344703;9269777;11136978;10882715;16169070;12808105;21131919;22427190;20815269;22650231;20619739;19874312;20703244;20720566;20824703;20860430;20880116;20881644;20975100;21072204;20392691;20371679;20713885;20157749;19913121;20192584;20628086;20678218;20726318;20736745;10712923;16737746;17056636;19633643;19705759;19718661;19759551;19765726;19789336;19802003;19819220;19833857;19865112;19954345;19966803;20056178;20098682;20140953;20147298;20150643;20237506;20379614;20520634;20526288;9069267;9297626;21107323;20680410;21166657;21358716;21200020;21168197;23076151;23240926;21209378;21305640;7829101;21134978;21283084;22020736;22318606;21595878;21263000;21796448;21430505;21586752;22130161;21757746;21615881;18624398;21908617;21750866;23362874;18781797;21987572;22199277;22753870;22997201;21139048;21906983;22809251;21788131;21809347;22120021;19322201;22456166;22589270;22614978;20301303;23000456;23233531;23096702;23201159;22939629;22983396;22180178;22407852;22773810;23496764;21963094;21988832;23000965;22912864;22974165;22931913;23536553;18667611;22123847;22820081;22887781;23153525;23262097 4893 P01111;Q5U091 ABBA01068467;AF493919;AL096773;AMYH01000967;AW021410;AY428630;AY941100;AY941101;BC005219;BC013214;BT019734;BT019735;CH471122;DA007844;EU332857;HD032933;K03211;L00043;M25898;NG_007572;NM_002524;S68580;X00642;X00643;X00644;X00645;X02751;X05564;X05565;X07440;X53291 AAA36548;AAA36556;AAA60255;AAB29639;AAH05219;AAM12633;AAQ94397;AAV38539;AAV38540;ABY87546;CAA25269;CAA25270;CAA25271;CAA25272;CAA26529;CAA29078;CAA29079;CAA30320;CAA37384;CBV35642;EAW56608;EAW56609;EAW56610;EAW56611;NP_002515;P01111 Hs.486502 1677610;1741009;1741051;1741163;1772534;1793774;1850348;2123368;2143778;2174814;2181601;5113681 D1S3316;G20630;GDB:177368;GDB:177539;GDB:178391;PMC28413P1;RH17093;RH64700;RH64875;SHGC-32741;WI-17660;WI-21546 ALPS4;N-ras;NRAS1;NS6 GTPase NRas;N-ras protein part 4;OTTHUMP00000013879;transforming protein N-Ras;v-ras neuroblastoma RAS viral oncogene homolog APPROVED protein-coding ENSG00000213281 7989 01273 114500;162900;164790;188470;613224;614470 REVIEWED 731343 NRCAM neuronal cell adhesion molecule Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 7 7 q31 107575318 107884062 - 107788071 108096841 - 1580863;6480464 22182708;14602817;11483367;8812479;19154219;19086053;19058789;18664314;18602664;17667921;17106428;16335952;16123759;15523497;15128462;14702039;12853948;12477932;12421765;12183361;12139915;12045112;11866539;11724816;11449000;9604207;9321706;9205841;9049255;22889411;19598235;20039944;20379614;16344560;8889548;8922386;20602751;21718388;21906983;21876539 4897 B7Z670;C9J8B6;C9JF43;C9JH43;C9JUR7;C9JYY6;F8W775;H7C132;Q14CA1;Q92823 AACC02000004;AB002341;ABBA01057890;ABBA01057891;ABBA01057892;ABBA01057893;ABBA01057894;ABBA01057895;ABBA01057896;AC005058;AC005683;AC007567;AF172277;AI031622;AJ001054;AJ001057;AK092330;AK127035;AK294195;AK299870;AMYH01017834;AMYH01017835;AMYH01017836;AMYH01017837;AY528240;BC098401;BC114570;BC115736;BU735065;BX538010;BX954399;CH236947;CH471070;DA292156;DA398450;NG_029898;NM_001037132;NM_001193582;NM_001193583;NM_001193584;NM_005010;U55258 AAC50765;AAF22282;AAF22283;AAH98401;AAI14571;AAI15737;AAS07434;AAS48507;BAA20801;BAG52532;BAG57510;BAH13156;CAA04504;CAA04507;CAD97960;EAL24386;EAW83427;EAW83428;EAW83429;EAW83430;NP_001032209;NP_001180511;NP_001180512;NP_001180513;NP_005001;Q92823 Hs.21422 1665534;1675080;1696746;1750283;1772494;1847488;1853877;2107447;2119780;2119836;2151584;2154458;2157226;2157228;2163657;2172562;2172564;2176168;2182533;2185844;2190723 A002A21;D7S2147E;D7S2242;D7S2306;D7S2397;D7S2400;D7S2708;G19850;GDB:1318176;GDB:1318382;GDB:3754628;GDB:3755063;HSC253;NIB455;NRCAM_7843;RH11567;RH12783;SHGC-112500;SHGC-77931;WI-13458;WIAF-1710 KIAA0343;MGC138845;MGC138846 NgCAM-related cell adhesion molecule;NrCAM-;OTTHUMP00000207042;OTTHUMP00000207067;OTTHUMP00000207068;OTTHUMP00000207071;bravo;hBravo;neuron-glia-cam-related cell adhesion molecule;neuronal cell adhesion molecule;neuronal surface protein Bravo;ng-CAM-related;nr-CAM APPROVED protein-coding ENSG00000091129 7994 07207 601581 REVIEWED 5684144 NRG1-IT1 NRG1 intronic transcript 1 (non-protein coding) p12 100856811 AC021909;BC037250 Hs.97362 miscrna 43633 6481115 NRG1-IT2 NRG1 intronic transcript 2 (non-protein coding) 100874285 AC022850;AC023948 miscrna 43634 6481117 NRG1-IT3 NRG1 intronic transcript 3 (non-protein coding) 8 32298262 32300241 + 100874286 ABBA01023628;AC068359;AMYH01018627;BX111416;NR_047475 Hs.147060 miscrna 43635 PREDICTED 1351142 NRDE2 NRDE-2, necessary for RNA interference, domain containing 14 14 14 q32.11 70791551 70845432 - 89814151 89868032 - 90744398 90798481 - 6480464 17353931;14702039;12508121;12477932;20834067;22118674;21139048;22505724 55051 E9PBK4;G3V338;H0YJT0;H0YJT6;Q9H7Z3 ABBA01030502;ABBA01030503;AK000870;AK024113;AK094807;AK127843;AK294958;AL161662;AL832941;AMYH01005944;AMYH01005945;AMYH01005946;AW196499;BC008925;BC021805;BC033136;BC098568;BC109040;BC118673;BC122532;CH471061;DC393057;NM_017970;R54506 AAH98568;AAI18674;BAA91404;BAB14830;BAG58032;CAH56334;EAW81422;EAW81423;EAW81424;EAW81425;NP_060440;Q9H7Z3 Hs.528131 1654589;1677316;1847860;1858096;2115727;2130311;2131917;2146185;2154347;5014051;5015619;5021872;5022200;5022578;5022651 D11S2921;D11S3114;D1S1423;D8S2278;G30330;G35468;G35558;G35931;G36008;G36256;L18426;RH98490;STS-T96622;WI-15879;sY3084 C14orf102;FLJ10008;FLJ14051 OTTHUMP00000244901;UPF0614 protein C14orf102;hypothetical protein LOC55051;protein NRDE2 homolog APPROVED protein-coding ENSG00000119720 20186 12625 VALIDATED 1346550 NRG3-AS1 NRG3 antisense RNA 1 q23.1 15197164;16344560;7566098 414242 AA383013;CF272718;DB052745 Hs.733268 C10orf100 NRG3 antisense RNA 1;NRG3 antisense RNA 1 (non-protein coding) APPROVED protein-coding 31429 731928 NRD1 nardilysin (N-arginine dibasic convertase) This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 1 1 p32.2-p32.1 52027452 52117197 - 52254864 52344609 - 729085;1580863;6480464 9581555 12463163;18355445;15544571;9479496;19118164;17442499;16923819;16710414;16344560;15489334;14702039;12590613;12477932;12095415;11478915;11432822;11042131;20877624;19615732;21151101;21801775;22863883;22939629;21703634;21139048;21890473;21906983;18781797;21972134;22294699;16061636;18362890;19797269;22351606;22174317;22653443 4898 B1AKJ5;F5H7V1;G3V1R5;H0Y5G9;O43847;Q6UUU9 ABBA01074785;ABBA01074786;ABBA01074787;ABBA01074788;AJ000350;AK055516;AK299271;AK302616;AK311631;AK312318;AL050343;AL589663;AMYH01000618;AY049784;AY360265;BC008775;CA422553;CH471059;DA245717;DA756064;DB084774;NG_029171;NM_001101662;NM_001242361;NM_002525;U64898;X93207;X93209 AAC39597;AAH08775;AAL15441;AAQ63406;BAG61292;BAG63862;CAA04025;CAA63693;CAA63694;CAA63697;CAA63698;EAX06804;EAX06805;EAX06806;EAX06807;EAX06808;EAX06809;NP_001095132;NP_001229290;NP_002516;O43847 Hs.584782 1340746;1663238;1670096;1696444;1719747;1763843;2112370;2133238;2162202;2171081;5092926 A009C22;D19S901;D1S3636;G32416;HSC20B072;RH11811;RH123564;SHGC-147508;SHGC-64045;SHGC-74810;SHGC-79752 hNRD1;hNRD2 N-arginine dibasic convertase;NRD convertase;NRD-C;OTTHUMP00000009987;OTTHUMP00000010037;nardilysin APPROVED protein-coding ENSG00000078618 7995 04036 602651 REVIEWED 1312137 NRF1 nuclear respiratory factor 1 This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein, have been characterized. Additional variants encoding different protein isoforms have been described but they have not been fully characterized. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, Jul 2008] 7 7 q32 129038791 129184158 + 129251555 129396922 + 1580863;1357966;2302400;2302404;6480464;6907045 15110384;18723421;17704287 7629110;8034649;19453261;19181665;18719883;18660489;18234454;18222924;18184751;18071027;16082529;15992771;15684387;15656981;15525513;15479157;15452206;15342556;15257658;15126285;14962666;14747477;14715254;12958173;12832613;12690205;12477932;11943463;11457459;11069771;11058604;10777530;10412986;10364186;10222232;9492280;9228045;9108165;8541844;8253388;8108407;7558044;2584221;12174908;11340167;12490281;18364745;19674972;20587593;20629635;20561910;20724482;19913121;20599696;20628086;15308669;21146886;22580151;21486948;21609478;21447778;21953459;22379092;22500024;22932898;22105178;23251661;23048038;22505724 4899 B4DDV6;C9JP85;Q16656;Q96AN2 AACC02000035;ABBA01057626;ABBA01057627;ABBA01057628;ABBA01057629;ABBA01057630;AC078846;AC084864;AI816827;AK290891;AK293351;AL530274;AMYH01017933;BC016925;BG742958;BM449724;BM993780;BP215381;CH236950;CH471070;DN998889;EU159452;HC309804;L22454;NM_001040110;NM_005011;U02683;U18375;U18376;U18377;U18378;U18379;U18380;U18381;U18382;U18383;U44848 AAA16918;AAA21647;AAA79013;AAH16925;ABV90872;ABZ92172;BAF83580;BAG56867;CBJ21209;EAL24100;EAW83726;EAW83727;EAW83728;EAW83729;EAW83730;EAW83731;NP_001035199;NP_005002;Q16656 Hs.654363 1728213;1786278;1795090;2127397;2137461;2139528;2152064;5126567 D7S3063;G63529;GDB:3755106;NFE2L1;PMC97559P1;RH17635;RH41864;SHGC-148196 ALPHA-PAL NRF-1;OTTHUMP00000184912;OTTHUMP00000184913;OTTHUMP00000184914;alpha palindromic-binding protein;nuclear respiratory factor 1 APPROVED protein-coding ENSG00000106459 7996 02930 600879 REVIEWED 1606028 NRG2 neuregulin 2 This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010] 5 5 q23-q33 139207444 139403063 - 139226364 139422884 - 2317965;1304015;6480464;6484113;6907045 18519747;9348101 9168114;9168115;19086053;17962208;17945187;17598910;17563728;15961242;14722120;12477932;10974560;10369162;9417904;9199335;16344560 9542 F5GZS7;F5H0N2;O14511 AB005060;ABBA01026440;ABBA01026441;ABBA01026442;ABBA01026443;AC008523;AC008667;AC010292;AC011379;AC094080;AF119157;AF119158;AF119162;AI271427;AK124504;AMYH01015654;AMYH01015655;BC103983;BC103984;BC114333;BC114334;CH471062;DA090538;NM_001184935;NM_004883;NM_013981;NM_013982;NM_013983;U92987 AAF28848;AAF28849;AAF28850;AAF28851;AAF28852;AAF28853;AAI03984;AAI03985;AAI14334;AAI14335;AAI66615;BAA23417;BAG54044;EAW62078;EAW62080;EAW62081;EAW62082;EAW62083;EAW62084;EAW62085;EAW62086;EAW62087;NP_001171864;NP_004874;NP_053584;NP_053585;NP_053586;O14511 Hs.408515 1670521;1780586;1780662;1780700;1780706;2153023 B290YC9;L28239;bac51301S;bac51539T;bac51651T;bac51688T DON1;Don-1;HRG2;NTAK OTTHUMP00000159546;OTTHUMP00000198728;OTTHUMP00000224194;OTTHUMP00000224196;OTTHUMP00000230686;divergent of neuregulin-1;neural- and thymus-derived activator for ErbB kinases;pro-NRG2;pro-neuregulin-2, membrane-bound isoform APPROVED protein-coding ENSG00000158458 7998 04821 603818 REVIEWED 1351571 NREP neuronal regeneration related protein 5 5 q22.1 111092892 111120854 - 111065000 111312628 - 6480464 16484684;16344560;16229809;15489334;15146197;14702039;12477932;12417574;10981724;10660586;8261136;16169070;20889312;18029348;18664493;20404911;21029697;22490543;15485502;21900206;19322201;23251661;21109781;22967977 9315 D6R982;D6R9Y7;D6REJ5;D6RIC9;Q16612 ABBA01069064;ABBA01069065;ABBA01069066;ABBA01069067;ABBA01069068;AC022108;AC025182;AC025450;AC114297;AF119859;AK021624;AK298779;AK307346;AK315617;AL547663;AMYH01015547;BC011050;BC019068;BC072013;BC072443;BX649051;CH471086;CN415439;DA027062;DA078027;DA490948;DA520221;DA526263;DA534424;DA683910;DA694580;DA704824;DA744980;DA752769;DA908653;DA939543;DC365764;FB659826;NM_001142474;NM_001142475;NM_001142476;NM_001142477;NM_001142478;NM_001142479;NM_001142480;NM_001142481;NM_001142482;NM_001142483;NM_004772;U30521;U36189 AAA74903;AAA93255;AAF69613;AAH11050;AAH19068;AAH72013;AAH72443;BAG37985;BAH12868;CAS01768;EAW49019;EAW49020;EAW49021;EAW49022;EAW49023;EAW49024;EAW49025;NP_001135946;NP_001135947;NP_001135948;NP_001135949;NP_001135950;NP_001135951;NP_001135952;NP_001135953;NP_001135954;NP_001135955;NP_004763;Q16612 Hs.36053;Hs.732682;Hs.745061 1648846;1650764;1657136;1677588;1712174;1763791;1776178;1785620;1785624;2151679;5108086;5115333;5124415;5124509 AFMA297ZF1;G19932;G54138;IB500;L28329;L31447;L31475;RH11566;RH11754;RH66861;SHGC-147464;SHGC-155955;SHGC-156034;STS-H60560 C5orf13;D4S114;P311;PRO1873;PTZ17;SEZ17 OTTHUMP00000159003;OTTHUMP00000222844;OTTHUMP00000222845;OTTHUMP00000222890;OTTHUMP00000222891;OTTHUMP00000222892;OTTHUMP00000222893;OTTHUMP00000222894;OTTHUMP00000222896;OTTHUMP00000222897;OTTHUMP00000222898;OTTHUMP00000222899;neuronal protein 3.1;neuronal regeneration related protein homolog;neuronal regeneration-related protein;protein p311 APPROVED protein-coding ENSG00000134986 16834 09545 607332 VALIDATED 1317640 NRG3 neuregulin 3 This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009] 10 10 q22-q23 83625077 84735341 + 83635070 84746935 + 2317965;6480464;6484113;6907045 18519747 9275162;19118813;19086053;18846501;18708184;18521091;18519826;17962208;17880691;17598910;16478787;15164054;14702039;12477932;11032326;22589734;19913121;20628086;20713722;16344560;19776380;20379614;20398908;20548296;21348951;21705454;21762460;23251661;23382691;23393555 10718 B3KVG8;B9EGV5;D9ZHQ3;D9ZHQ6;D9ZHQ7;D9ZHQ8;P56975;R4GNI6 AA704915;ABBA01003775;ABBA01003776;ABBA01003777;ABBA01003778;ABBA01003779;ABBA01003780;ABBA01003781;ABBA01003782;ABBA01003783;ABBA01003784;AC010157;AK098823;AK122886;AK296563;AL096705;AL096706;AL096863;AL096864;AL136085;AL354749;AL356129;AL358552;AL391478;AL513204;AL513316;AL589782;AMYH01002888;AMYH01002889;BC136811;BC143665;CH471142;DB326565;DQ001411;DQ338459;DQ857894;HM068873;HM068874;HM068875;HM068876;HM068877;HM068878;HM068879;HM068880;HM068881;HM068882;HM068883;HM068884;HM068885;NG_013373;NM_001010848;NM_001165972;NM_001165973 AAI36812;AAY17216;ABC69293;ABG77979;ADK90020;ADK90021;ADK90022;ADK90023;ADK90024;ADK90025;ADK90026;ADK90027;ADK90028;ADK90029;ADK90030;ADK90031;ADK90032;BAG53780;BAG59183;EAW80374;NP_001010848;NP_001159444;NP_001159445;P56975 Hs.125119 1338467;1340178;1645748;1654778;1657046;1657325;1675188;1675295;1682732;1706006;1710566;1714301;1714733;1715685;1717819;1730395;1736068;1739801;1751217;1751821;1755379;1760741;1770962;1771806;1774411;1782110;1850055;1850505;2119990;2131833;2138564;2138759;2141189;2161785;2173509;2180947;2184996;2185579;2186619;2217678;5091146;5093408;5113661 A009O11;D10S1343E;D10S1367E;D10S1455;D10S1620E;D10S1786;D10S2242;D10S228E;D10S246;D10S2475;D10S671;G32700;NRG3_3103;RH11310;RH119289;RH119931;RH120031;RH121820;RH46051;RH66478;RH68827;RH70340;RH70354;RH80120;RH93468;SHGC-105093;SHGC-105825;SHGC-142257;SHGC-144263;SHGC-154958;SHGC-30449;SHGC-33444;SHGC-33483;SHGC-34699;SHGC-35063;SHGC-36005;SHGC-57694;SHGC-57774;SHGC-78636;SHGC-82385;STS-N58117;WI-15668;WI-17042 HRG3;pro-NRG3 OTTHUMP00000019990;OTTHUMP00000245406;OTTHUMP00000245407;OTTHUMP00000245409;OTTHUMP00000245410;neuregulin 3 variant 1;neuregulin 3 variant 10;neuregulin 3 variant 11;neuregulin 3 variant 12;neuregulin 3 variant 13;neuregulin 3 variant 14;neuregulin 3 variant 3;neuregulin 3 variant 4;neuregulin 3 variant 5;neuregulin 3 variant 6;neuregulin 3 variant 7;neuregulin 3 variant 8;neuregulin 3 variant 9;neuregulin-3-like polypeptide;pro-neuregulin-3, membrane-bound isoform APPROVED protein-coding ENSG00000185737 7999 16115 605533 REVIEWED 1606150 NRG4 neuregulin 4 The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008] 15 15 15 q24.2 53160233 53230688 - 74022899 74091842 - 76234314 76304785 - 2317965;6480464;6484113;6907045 18519747 17962208;17684490;17545517;15583696;15489334;12477932;10348342;19913121;20628086;17207965;21805036;23222517;23263486;23033483 145957 E9PJI7;F8W729;H3BP63;Q0P6N6;Q7Z663;Q8WWG1 ABBA01060542;AC027104;AC087456;AK307362;AK311204;AK311507;AM392364;AM392365;AM392366;AMYH01006819;BC017568;BX538100;CH471136;CR749519;NM_138573 AAH17568;ADQ33202;CAD98015;CAH18333;CAL35829;CAL35830;CAL35831;EAW99227;EAW99228;NP_612640;Q8WWG1 Hs.732438 1644839;1748811;1753385 SGC31077;SHGC-107194;SHGC-110437 DKFZp779N0541;DKFZp779N1944;HRG4 OTTHUMP00000183575;heregulin 4;pro-NRG4;pro-neuregulin-4, membrane-bound isoform APPROVED protein-coding 29862 14871 610894 VALIDATED 731515 NRG1 neuregulin 1 The protein encoded by this gene was originally identified as a 44-kD glycoprotein that interacts with the NEU/ERBB2 receptor tyrosine kinase to increase its phosphorylation on tyrosine residues. This protein is a signaling protein that mediates cell-cell interactions and plays critical roles in the growth and development of multiple organ systems. It is known that an extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are tissue-specifically expressed and differ significantly in their structure, and thereby these isoforms are classified into types I, II, III, IV, V and VI. The gene dysregulation has been linked to diseases such as cancer, schizophrenia and bipolar disorder (BPD). [provided by RefSeq, May 2009] 8 8 p12 31616810 32741615 + 31496820 32622558 + 1580810;1581606;1580863;2317965;6480464;6484113;6907045;7240710 16155362;16085051;18519747 20926259;22226548;22504067;22042562;22052506;22350758;22378022;22467496;22574178;8096067;1348215;1350381;15073182;17432114;15155732;10559227;16412517;19521112;19394386;19367584;19367581;19350564;19339916;19328558;19269083;19229203;19199244;19196962;19184335;19156152;19150438;19148499;19127563;19086053;19058791;19054571;18806920;18799465;18798975;18728681;18714568;18704261;18668031;18606232;18585932;18584117;18571900;18543275;18516516;18497096;18494554;18494263;18470533;18466881;18466879;18455369;18455303;18395550;18291420;18286587;18282690;18255317;18234478;18198266;18193072;18180429;18159252;18032396;17962208;17941827;17925794;17903296;17901998;17884806;17652086;17631867;17598910;17565985;17562386;17519028;17503451;17499242;17447867;17408693;17405926;17366345;17336946;17300918;17275115;17214955;17072305;17033632;16940976;16891421;16868568;16867224;16825199;16767099;16730337;16690615;16687441;16638076;16618933;16526041;16520822;16483744;16470843;16446404;16442083;16428439;16344560;16326006;16287046;16249994;16219118;16219117;16189508;16158055;16082692;15939841;15897877;15703820;15645137;15609326;15584912;15545978;15538186;15527969;15498868;15494726;15489334;15466169;15326116;15303101;15276238;15248869;15219675;15197397;15162166;15159416;15007393;14966480;14729827;14702039;14699424;14647391;14632199;14569272;12874607;12808428;12800145;12768307;12646923;12600989;12556556;12528817;12509456;17602072;12478479;12477932;12471041;12204892;12145742;12082616;11896060;11555649;11116142;21555713;10597312;22377709;22563075;22590542;20580130;10585499;10537356;10523851;9685409;9565587;9342050;9333014;9168114;8702572;8325659;8125298;8095334;8062828;7903175;7876250;7782315;7730382;7721889;7689552;7592681;7509448;9168115;20102668;21368034;20215529;19913121;20520724;20628086;20638435;21546767;20671236;10372964;11389077;18583979;19306381;19439994;19448847;19449332;19497323;19545856;19556605;19569180;19573260;19575259;19594860;19597049;19626024;19644050;19652122;19659570;19733651;19736351;19782967;19797898;19801490;19802002;19913623;19937977;19965935;19967439;20036336;20061032;20182055;20379614;20427670;20435087;20472376;20497232;20526724;7514177;7556068;9553078;20371257;20800603;20978455;21035784;21041608;21246584;20374152;20218976;20227043;20582876;20682778;20921115;20736300;21057508;20625696;21247898;21745728;21239627;21234898;22974608;23035098;22891299;21858616;22520967;22968213;23148218;23213231;21283760;21467033;21371516;21576249;21716252;21653853;21437657;20927045;23739962;21840482;22832904;22886427;22249266;23104879;21792199;21512575;21706185;21127983;21965611;22200588;22216327;22425775;22027878;22249457;22209534;22267200;22378872;22019858;21865659;22158511;17336907;22183611;22494484;23308187;23399902;23253390;23328545;23247143;23408906;22999558;22414959;23032943;22613991;23400839;22790889;22739235 3084 A6MW55;A6MW56;B0FWZ3;B0FYA7;B0FYA8;B0FYA9;B7Z1D7;B7Z1E3;E5RHP6;E5RHQ1;E5RIG8;E7EX30;F8W9E3;H0YBA3;H0YCP0;H0YDC2;H7BXY2;Q6PK61;Q7RTW3;Q7RTW5;Q8NFN2 AB451331;AB451475;ABBA01023619;ABBA01023620;ABBA01023621;ABBA01023622;ABBA01023623;ABBA01023624;ABBA01023625;ABBA01023626;ABBA01023627;ABBA01023628;ABBA01023629;ABBA01023630;ABBA01023631;ABBA01023632;ABBA01023633;ABBA01023634;ABBA01023635;AC021909;AC022833;AC022850;AC023948;AC068359;AC068931;AC083977;AC103675;AC104000;AC104029;AC113209;AF026146;AF176921;AF491780;AK097005;AK223435;AK289927;AK290730;AK293240;AK293270;AK298132;AMYH01018625;AMYH01018626;AMYH01018627;AMYH01018628;AY207002;BC006492;BC007675;BC064587;BC073871;BC144446;BC150609;BK000383;BQ018711;BT007389;CH471080;CN603652;CN603654;CR450288;DA805080;DC425692;EF372273;EF372274;EF372275;EF372276;EF372277;EF517295;EF517296;EF517297;EU359055;EU363508;EU363509;EU363510;GQ983557;GQ983558;L12260;L12261;L41827;M94165;M94166;M94167;M94168;NG_012005;NM_001159995;NM_001159996;NM_001159999;NM_001160001;NM_001160002;NM_001160004;NM_001160005;NM_001160007;NM_001160008;NM_004495;NM_013956;NM_013957;NM_013958;NM_013959;NM_013960;NM_013962;NM_013964;S68256;U02325;U02326;U02327;U02328;U02329;U02330 AAA19950;AAA19951;AAA19952;AAA19953;AAA19954;AAA19955;AAA58638;AAA58639;AAA58640;AAA58641;AAB59358;AAB59622;AAC41764;AAD01795;AAH06492;AAH07675;AAH64587;AAH73871;AAI50610;AAM71137;AAM71139;AAM71140;AAO49724;AAP36053;AAQ13665;ABQ53539;ABQ53540;ABQ53541;ABQ53542;ABQ53543;ABR13842;ABR13843;ABR13844;ABY66348;ABY66349;ABY66350;ABY70644;ADN85612;ADN85613;BAD97155;BAF82616;BAF83419;BAG70145;BAG70289;BAH11473;BAH11479;BAH12729;CAG29284;DAA00040;DAA00041;DAA00042;DAA00043;DAA00044;DAA00045;DAA00046;DAA00047;DAA00048;EAW63407;EAW63408;EAW63409;EAW63410;EAW63411;EAW63412;EAW63413;EAW63414;EAW63415;EAW63416;EAW63417;EAW63418;EAW63419;NP_001153467;NP_001153468;NP_001153471;NP_001153473;NP_001153474;NP_001153476;NP_001153477;NP_001153479;NP_001153480;NP_004486;NP_039250;NP_039251;NP_039252;NP_039253;NP_039254;NP_039256;NP_039258;Q02297 Hs.453951;Hs.668810 1334647;1335208;1337317;1338275;1340037;1340154;1645631;1651054;1658237;1670384;1685704;1703448;1704680;1706516;1706736;1714113;1714709;1714777;1718177;1719721;1720427;1728039;1728377;1755623;1755897;1756121;1767862;1854962;2108685;2112348;2116126;2128671;2129250;2140921;2160623;2166863;5125664;7186601 AFMA143YG9;D8S1125;D8S1477;D8S1810;D8S2063;D8S2226;D8S278;D8S375;D8S499;G17227;G27359;G30982;G59016;G63290;G63471;HSC1IA022;L30054;RH11877;RH119663;RH120019;RH120054;RH122857;RH123550;RH35824;RH65488;RH98441;SHGC-12780;SHGC-142477;SHGC-142734;SHGC-142912;SHGC-78993;SHGC-80823;SHGC-81230;SHGC-82537;STS-Z40930;UniSTS:468010;WI-18803 ARIA;GGF;GGF2;HGL;HRG;HRG1;HRGA;MST131;NDF;SMDF MSTP131;OTTHUMP00000225398;OTTHUMP00000225419;OTTHUMP00000225420;OTTHUMP00000225421;OTTHUMP00000225422;OTTHUMP00000225477;OTTHUMP00000225545;OTTHUMP00000230603;OTTHUMP00000230605;glial growth factor;heregulin, alpha (45kD, ERBB2 p185-activator);neu differentiation factor;neuregulin 1 type IV beta 1a;neuregulin 1 type IV beta 3;pro-NRG1;pro-neuregulin-1, membrane-bound isoform;sensory and motor neuron derived factor APPROVED protein-coding ENSG00000157168 7997 00802 142445;603013 REVIEWED 733655 NRGN neurogranin (protein kinase C substrate, RC3) Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008] 11 11 q24 124114952 124122309 + 124609829 124617102 + 1580863;6480464 10075657;17244347;17140601;16677608;15489334;12889141;12808095;12477932;11060308;9886843;9499372;9143500;8929222;8080473;7898318;21112188;18855024;19571808;21037240;20875798;21538840;21647148;22306195;22856365;22253779;22461181;21799211;21988832 4900 Q92686 ABBA01031254;AJ317956;AMYH01004103;AP000866;BC002835;BM923818;BT007325;CH471065;DB474181;NM_001126181;NM_006176;U89165;X99075;X99076;Y09689;Y15058;Y15059 AAB49458;AAH02835;AAP35989;CAA67532;CAA67533;CAA70867;CAA75343;CAC37631;EAW67593;EAW67594;NP_001119653;NP_006167;Q92686 Hs.524116 1796424;2118266;2148026 NRGN_1009;RH18180;WI-16853 RC3;hng OTTHUMP00000231529;calmodulin-binding protein;neurogranin;ng;protein kinase C substrate APPROVED protein-coding ENSG00000154146 8000 03828 602350 REVIEWED 1323522 NRIP1 nuclear receptor interacting protein 1 Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008] 21 21 q11.2 15255427 15262718 - 16333556 16437126 - 1580863;5128512;6480464;6484676;6484113 16394250;19471584 11509661;20410059;15572661;7641693;10364267;11266503;12773562;11518808;19093296;19064572;18950845;18660489;18211901;17880687;16527872;16439465;16213843;16131398;15632153;15489334;15060175;14736873;14702039;14581481;12782406;12554755;12549917;12477932;12403842;11459805;11285237;11006275;10830953;10428779;10406462;10022764;9774688;9626662;9556573;9521594;8887632;1266503;9115274;16189514;16009131;9774463;10531331;11278635;15001550;15604093;16713569;17053781;18374649;19060904;19367438;19401155;19734545;19862326;19887821;19933466;20083575;20200160;20379614;20453000;9013766;9368054;12503607;10082574;10379889;10659697;11500849;15130509;21832049;9192902;21543494;21700896;21868449;22629304;22118674;22071320;21693764;21890473;21906983;22285022;19322201;22956256;21182203;23241901;10935545 8204 A8K171;C9J130;P48552 ABBA01057085;AF127577;AF248484;AK123818;AK289786;AL163207;AMYH01012141;BC040361;BE792046;CH471079;HF584749;HF584750;NM_003489;X84373 AAF35255;AAF62185;AAH40361;ABM82106;ABM85288;BAF82475;CAA59108;CAB90396;CCQ44046;CCQ44047;EAX10047;NP_003480;P48552 Hs.155017 1664002;1679201;1681682;1695622;1729437;1791165;1791526;1792938;1793970;2130657;2131703;2137059 D21S13E;G34572;G48501;Nrip1;PMC113761P4;PMC170950P5;PMC310710P1;RH36036;RH77742;SHGC-31616;SHGC-34854;SHGC-7354 FLJ77253;RIP140 OTTHUMP00000083036;OTTHUMP00000083037;OTTHUMP00000083038;nuclear factor RIP140;nuclear receptor-interacting protein 1;receptor interacting protein 140;receptor-interacting protein 140 APPROVED protein-coding ENSG00000180530 8001 03927 602490 REVIEWED 1350542 NRIP2 nuclear receptor interacting protein 2 12 12 12 p13.33 4548450 4558161 - 2804775 2814450 - 2934514 2944221 - 1580863;6480464 17075290;16381901;16344560;15489336;15489334;14702039;12477932;11256614;11230166;11076863;10860982;17332742 83714 A2RRE3;F5H065;F5H2G5;Q9BQI9 ABBA01048800;AC005841;AK054740;AK098063;AK300944;AL136557;AMYH01004182;BC036063;BC131562;CH471116;DA391605;NM_031474 AAH36063;AAI31563;BAG53573;BAG62573;CAB66492;CAL37962;EAW88888;NP_113662;Q9BQI9 Hs.530816 DKFZp761G1913 OTTHUMP00000161189;nuclear receptor-interacting protein 2 protein-coding ENSG00000053702 23078 14839 VALIDATED 5471646 NRON non-protein coding RNA, repressor of NFAT 9 q33.3 129170054 129172783 - 10737800;16141075 641373 ABBA01043810;AC006443;AMYH01021716;NR_045006 Hs.742606 NCRNA00194 miscrna 37079 609618 PROVISIONAL 1312415 NRIP3 nuclear receptor interacting protein 3 11 11 11 p15.3 9121783 9145262 - 8960953 8982124 - 9002123 9025596 - 6480464 16344560;15489334;14702039;12601173;12477932;11528127;17207965;19454493;19322201 56675 B7Z3Y4;E9PIW3;H0YCM9;H0YEG7;Q9NQ35 ABBA01061201;AC026894;AC079296;AJ400877;AK024750;AK093229;AK098694;AK296484;AMYH01003378;AY211930;BC008835;CH471064;DA249943;NM_020645 AAH08835;AAO65183;ADQ31903;BAB14984;BAH12370;CAB92286;EAW68604;NP_065696;Q9NQ35 Hs.523467 1675961;1675981;1782450;2129003;2219198;5014051;5015619;5037552;5090977 A006U43;D11S1019;D11S3114;D8S2278;D8S2279;NRIP3__6073;RH92003;RH99026;SHGC-155446 C11orf14;NY-SAR-105 OTTHUMP00000230732;nuclear receptor-interacting protein 3;sarcoma antigen NY-SAR-105 protein-coding ENSG00000175352 1167 14840 613125 VALIDATED 1313083 NRL neural retina leucine zipper This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008] 14 14 q11.1-q11.2 23619156 23623672 - 24549316 24553832 - 1580991;1580863;6480464;7240710 11879142 12107411;11477108;10887186;10192380;9344665;12552256;12477932;1427865;9390516;8939891;1729696;17335001;16854989;15591106;15489334;15459973;15328344;15001570;12796249;12566383;20551322;19933183;16880509;20801516;21697133;20301590;21981118 4901 A8MX14;H0YNW2;P54845 AB593102;AB593104;AB593106;ABBA01061330;AL136295;AMYH01005609;BC012395;BT006942;BX161381;BX161522;CH471078;M81840;M95925;NG_011697;NM_006177;U95012 AAA59948;AAA96828;AAB82768;AAH12395;AAP35588;BAJ84042;BAJ84044;BAJ84046;CAD61873;CAD61954;EAW66116;NP_006168;P54845 Hs.652297 1648445;1730027;1794418;2139378;2144032;2219200;7184657 D14S1329;D14S46;NRL__6074;PMC311069P9;RH1631;SHGC-31124 D14S46E;NRL-MAF;RP27 OTTHUMP00000164706;OTTHUMP00000164707;neural retina-specific leucine zipper protein;neural retinal-specific leucine zipper APPROVED protein-coding ENSG00000129535 8002 08875 162080;613750 REVIEWED 1352240 NRM nurim (nuclear envelope membrane protein) The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 6 6 6 p21.33 32253963 32256906 - 30763805 30766748 - 30655824 30659197 - 1304479;6480464 10402458 17517639;16303743;15542857;12477932;19913121;20628086;19851445;23092226;11766875;21890473;16341674;16344560 11270 B3KQU6;H0Y6T6;I3XIE2;I3XIE3;Q9BSX3 AB110935;AB110936;AB202096;ABBA01038053;AF143676;AI521967;AK075509;AK298152;AK315190;AL662797;AL732442;AL845353;AMYH01016206;AY358411;BC004509;BC021260;BC039865;BE548635;BM847576;BM917173;BU159435;BX908728;CH471081;CR759873;CR788240;CR936878;DA000315;JQ798186;JQ798187;NM_001270707;NM_001270708;NM_001270709;NM_001270710;NM_007243;NR_073065;NR_073066;NR_073072 AAD45885;AAH04509;AAH21260;AAH39865;AAQ88777;ADQ32972;AFL55648;AFL55649;BAD13701;BAD13702;BAE78616;BAG37630;BAG52158;BAG60428;EAX03320;NP_001257636;NP_001257637;NP_001257638;NP_001257639;NP_009174;Q8IXM6 Hs.519993 1848120;2180393;2185963 RH46627;RH46631;SHGC-34551 NRM29 OTTHUMP00000029332;OTTHUMP00000164112;OTTHUMP00000164113;nuclear envelope membrane protein;nuclear rim protein;nurim APPROVED protein-coding ENSG00000137404 8003 10120 REVIEWED 1344667 NRK Nik related kinase The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010] X X X q22.3 105541018 105677081 + 104953192 105089258 + 105066536 105202602 + 1580863;6480464;6484113 16381901;15772651;15489336;15489334;14702039;12837278;12477932;11230166;11076863 203447 B7Z1I7;F5H049;Q7Z2Y5 ABBA01018882;ABBA01018883;ABBA01018884;ABBA01018885;ABBA01018886;ABBA01018887;ABBA01018888;ABBA01018889;ABBA01018890;ABBA01018891;AK131549;AK293500;AK300377;AMYH01022815;BC108702;BX538345;CH471120;NG_021425;NM_198465;Z68339;Z69734;Z70274;Z83850;Z97356 AAI08703;AAI72241;AAI72556;BAD18683;BAH11523;BAH13273;CAD98108;CAL37778;CAL38221;EAX02749;EAX02750;EAX02751;NP_940867;Q7Z2Y5 Hs.209527 1663610;1701734;1791135;1853349;1857689;2148428;2182041;7184763 DXS87;L77816;L77860;RH70201;SHGC-34675;SHGC-36254;px-41g5 DKFZp686A17109;FLJ16788;MGC131849;NESK OTTHUMP00000043367;nik-related protein kinase APPROVED protein-coding ENSG00000123572 25391 14841 300791 REVIEWED 1351872 NRN1 neuritin 1 This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 6 p25.1 7224912 7234313 - 5943231 5952632 - 5998232 6007633 - 633434;6480464 9122250 18265009;16723126;15489334;14702039;14574404;12477932;19569075;21652774;20405246;16344560 51299 Q9NPD7 ABBA01022013;AF114833;AF136631;AJ420483;AK093824;AK314095;AL136307;AL541038;AMYH01016055;BC002683;BC042019;BF970432;BX340783;CH471087;DB013243;NM_001278710;NM_001278711;NM_016588 AAF62371;AAH02683;AAH42019;AAP97232;BAG36790;EAW55183;EAW55184;NP_001265639;NP_001265640;NP_057672;Q9NPD7 Hs.103291 1853954;2109575;5017793 NRN1;NRN1_9703;RH1540 MGC44811;NRN;dJ380B8.2 OTTHUMP00000015989;neuritin APPROVED protein-coding 17972 07592 607409 REVIEWED 1605881 NRN1L neuritin 1-like 16 16 16 q22.1 52427193 52428683 + 66476282 66477772 + 67918781 67920271 + 6480464 12975309;18265009;12477932 123904 I3L2K6;J3QS81;Q496H8 ABBA01025463;AC040162;AMYH01007754;AY358782;BC100863;BC100864;BC100865;BC100866;CH471092;NM_198443 AAI00864;AAI00865;AAI00866;AAI00867;AAQ89142;EAW83184;NP_940845;Q496H8 Hs.435464 1648916;2150761;2218854;5493099 RH79122;SHGC-74292;UNQ2446__5011;UniSTS:484227 MGC118990;MGC118993;UNQ2446 MRCC2446;OTTHUMP00000174845;neuritin-like protein protein-coding ENSG00000188038 29811 18261 PROVISIONAL 732191 NRP2 neuropilin 2 This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 2 2 q33.3 206255469 206371102 + 206547224 206662857 + 1580863;6480464;6484113 21474827;9288754;9331348;11278319;19409892;19088020;19037249;18785001;18781179;18708346;18564921;18307536;18182619;18065694;17917967;17891484;17699524;17427189;17088944;16816121;16621967;15613413;14760080;14702039;12845630;12730958;12659673;12632379;12477932;12412174;12210066;11815985;11756651;11677062;11394892;11112349;10891538;10748121;10520995;10329017;10196546;9883722;9872925;9856463;15550623;21324919;19474288;19480842;19580679;19736548;19790074;19855168;20548225;20488940;20651020;20851535;23149913;19909241;21747928;21875946;21199821;21610314;21880798;22384800;22971992;23145112;22028766;21840568;22961441;23076131;22777769 8828 C9JH98;F5H1G4;F5H2X3;Q7LBX6;Q7Z3T9;Q9H2D5 ABBA01062639;ABBA01062640;AC007362;AC007561;AF016098;AF022859;AF022860;AF119893;AF280544;AF280545;AF280546;AF281074;AK057705;AK130198;AK290934;AK307367;AK307616;AL833606;AMYH01011431;BC009222;BC018631;BC101525;BC104770;BC117413;BC143237;BC143238;BC143608;BX537423;BX648292;CH471063;JA738705;JA738707;JA738709;JA738711;JA738713;JA738715;NG_029567;NM_003872;NM_018534;NM_201264;NM_201266;NM_201267;NM_201279 AAC12922;AAC51788;AAC51789;AAF69647;AAG41403;AAG41404;AAG41405;AAG41897;AAG41898;AAG41899;AAG41900;AAH09222;AAI01526;AAI04771;AAI17414;AAI43239;AAI43609;AAX93216;AAY14875;ADR83417;BAF83623;CAD97665;CCF77005;CCF77006;CCF77007;CCF77008;CCF77009;CCF77010;EAW70362;EAW70363;EAW70364;EAW70365;EAW70366;EAW70367;EAW70368;EAW70369;EAW70370;EAW70371;EAW70372;EAW70373;NP_003863;NP_061004;NP_957716;NP_957718;NP_957719;NP_958436;O60462 Hs.471200 1647388;1690766;1706100;1739993;1751271;1762167;1796426;2122597;2158324;2166165;5024039;5037552;5127650 D16S325;D2S1846;D2S2128;D8S2279;NRP2_1404;RH36188;RH68921;RH99006;SGC31090;SHGC-105157;SHGC-146056;SHGC-80012;STS-AA009628 MGC126574;NP2;NPN2;PRO2714;VEGF165R2 OTTHUMP00000163807;OTTHUMP00000163808;OTTHUMP00000206352;OTTHUMP00000206353;OTTHUMP00000206354;OTTHUMP00000206355;neuropilin-2;neuropilin-2a(17);neuropilin-2a(22);neuropilin-2b(0);receptor for VEGF165 and semaphorins class3;vascular endothelial cell growth factor 165 receptor 2;vascular endothelial growth factor-165 receptor 2 APPROVED protein-coding ENSG00000118257 8005 03643 602070 REVIEWED 1602040 NRROS negative regulator of reactive oxygen species 3 3 3 q29 194948253 194970470 + 197851053 197873272 + 196366656 196388875 + 6480464 15489334;12975309;12477932;23545260;22505724 375387 Q86YC3 ABBA01033748;AC055725;AMYH01013795;AY358322;BC034704;BC044233;NM_198565 AAH44233;AAQ88688;NP_940967;Q86YC3 Hs.702186 1706246;2148246 SHGC-80664;WI-16806 GARPL1;LRRC33;MGC50789;UNQ3030 ELLP3030;OTTHUMP00000208249;leucine rich repeat containing 33;leucine-rich repeat-containing protein 33 APPROVED protein-coding ENSG00000174004 24613 17452 615322 PROVISIONAL 733081 NRP1 neuropilin 1 This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 p12 33506432 33663839 - 33466419 33623833 - 1581611;1580863;1334463;2313725;2298727;6480464;6484113 16175607;15563310;16816123;16633338 22885184;17222790;9288753;9529250;19499532;19486891;19364973;19270265;19086053;19054571;19037249;18984674;18974107;18922901;18785001;18708346;18704117;18638267;18628209;18403014;18284215;18272814;18231921;18223683;18164591;18065694;18000534;17974973;17917967;17891484;17726369;17575273;17376520;17369861;17369353;17088944;17015762;16990775;16849452;16847823;16809290;16763549;16648151;16513643;16424390;16371354;16344560;16335952;16330548;15956974;15920019;15695515;15613413;15522955;15489334;15233640;15166498;15161648;15160992;15126502;14760080;14514674;14500350;12883660;12730958;12577308;12517344;12477932;12216067;11986311;11976715;11953749;11807987;11333271;11256614;11166270;11112349;10842181;10748121;10688880;10520995;10520994;10414980;22052678;22318724;22627768;10409677;10329017;10196546;9883722;9856463;9331348;14600159;15550623;15239958;20675371;12456642;20950431;22134529;16159877;20956519;20026901;20588308;20631636;11604131;15978582;16385451;18088455;18996601;19474288;19480842;19736548;19805273;19837659;19857463;20043119;20053475;20085644;20201926;20215856;17017185;21111525;21245381;21063027;21186301;21401950;21525791;22875653;22251373;21306301;21682944;21586748;22393126;19909241;22025255;21978468;21653826;21338642;21852397;21897119;21139048;21890473;21906983;21951945;23145112;23185562;21988832;23288161;23452854;23297363;18443354;23621014;23222303 8829 A8K9V7;E7EX60;E9PEP6;H0Y4A0;H0Y4N6;H0Y7Z2;O14786;Q59F20;Q5JWQ2;Q5JWQ4;Q5JWQ6;Q5T7F0;Q5T7F1;Q68DN3;Q6AWA9;Q96I90 AA973607;AB209641;ABBA01033370;ABBA01033371;ABBA01033372;ABBA01033373;AF016050;AF018956;AF086016;AF145712;AF268691;AF280547;AF280548;AF280549;AF280550;AF280551;AF482431;AK292822;AL121748;AL353600;AL698999;AL833608;AMYH01002224;AMYH01002225;AY249243;BC007533;BC007737;BT006995;BX510902;BX648025;BX648250;CH471072;CR749333;DA702852;EU332859;NG_030328;NM_001024628;NM_001024629;NM_001244972;NM_001244973;NM_003873;NR_045259 AAC12921;AAC51759;AAF44344;AAG41406;AAG41893;AAG41894;AAG41895;AAG41896;AAH07533;AAH07737;AAP35641;AAP78927;AAP80144;AAQ14300;ABY87548;ACE86571;ACE87254;BAD92878;BAF85511;CAD91133;CAH10373;CAH10397;CAH18187;EAW85942;EAW85943;EAW85944;EAW85945;NP_001019799;NP_001019800;NP_001231901;NP_001231902;NP_003864;O14786 Hs.131704;Hs.653996 1338471;1659984;1661315;1661317;1695144;1713731;1718101;1725009;1767719;1857662;2128061;2160540;5037552 A005W14;D10S1654;D8S2279;G20549;G48212;RH118801;RH120752;RH122665;RH45612;RH46501;RH65747;RH70034;SHGC-56598 BDCA4;CD304;DKFZp686A03134;DKFZp781F1414;NP1;NRP;VEGF165R OTTHUMP00000020818;OTTHUMP00000020819;OTTHUMP00000020820;OTTHUMP00000020821;OTTHUMP00000020822;neuropilin;neuropilin-1;transmembrane receptor;vascular endothelial cell growth factor 165 receptor APPROVED protein-coding ENSG00000099250 8004 03642 602069 REVIEWED 1317257 NRSN1 neurensin 1 6 6 6 p22.3 25359713 25381056 + 24234329 24255609 + 24126414 24147757 + 6480464 20379614;12463420;15489334;14702039;14574404;12477932;8125298;1870127;20807314;21130836 140767 Q5VTS0;Q5VTS2;Q8IZ57 ABBA01066532;AF418980;AK096290;AK225775;AK314373;AL139388;AL445196;AL591343;AL833257;AMYH01016148;BC023514;BC067291;CH471087;DB552652;DB553646;FO393410;NM_080723 AAH23514;AAL14639;ABM84321;ABM87716;ACE86868;ACE87556;BAC04748;BAG37001;EAW55438;EAW55439;NP_542454;Q8IZ57 Hs.726270 1712733;1792854;2107757;2120264 A006R42;PMC166143P12;RH121064;VMP__5067 VMP;p24 OTTHUMP00000018028;neurensin-1;neuro-p24;vesicular membrain protein p24;vesicular membrane protein of 24 kDa;vesicular membrane protein p24 protein-coding ENSG00000152954 17881 18285 VALIDATED 731950 NRTN neurturin Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Jul 2008] 19 19 p13.3 5774818 5779335 + 5823818 5828335 + 1600267;1580863;6480464 9700200 8945474;15242795;9286710;18970938;18222320;17522305;16895582;16081799;15829225;12397373;11790765;10829012;9407096;9192899;9192898;12477932;21203500;20301612;21723942;22847529 4902 Q99748 ABBA01055986;AC011499;AC024592;AL161995;AMYH01009367;BC137399;BC137400;CH471139;NG_008202;NM_004558;U78110 AAC50898;AAI37400;AAI37401;CAB82327;EAW69140;NP_004549;Q99748 Hs.234775 NTN neurturin APPROVED protein-coding ENSG00000171119 8007 03604 602018 REVIEWED 734185 NRXN1 neurexin 1 Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq, Oct 2008] 2 2 p16.3 50000992 51113178 - 50145643 51259674 - 1580863;632385;633988;6480464;7240710 12437578;11152476 1621094;19197363;19086053;18945720;18940311;18490107;18270208;18179900;17989066;17158188;16344560;15815621;15797875;15684424;14702039;14522992;12477932;12421765;12168954;12036300;11944992;11243866;11171101;11036064;9921901;9856994;9628581;9448462;9325340;8901523;8786425;8699246;8576240;9707552;20834067;20421335;20860064;20967226;20543817;20691247;20162629;19557195;19658047;19675094;19734545;19736351;19880096;19896112;20113834;20157312;20201926;20347009;20379614;20414139;20468056;19822762;21687627;21288692;21477380;17034946;18057082;21827697;22235116;21424692;21559374;22832960;22617343;23472757;21890328;21964664;22405623;22504536;22948383;22832527;23294455;22337556;22645275;23319000 9378 A4FVB9;A7E294;E7EQN4;E7ERL8;E7ETA5;F5GYC7;F8WB18;H0Y568;H7BYC7;P58400;Q49A31;Q9H3M2 AB011150;AB035356;ABBA01075203;ABBA01075204;ABBA01075205;ABBA01075206;ABBA01075207;ABBA01075208;ABBA01075209;ABBA01075210;ABBA01075211;ABBA01075212;ABBA01075213;ABBA01075214;ABBA01075215;ABBA01075216;ABBA01075217;ABBA01075218;AC007462;AC007560;AC007682;AC009234;AC068715;AC068725;AC069550;AC078994;AF064842;AF087975;AK093260;AK124726;AK295773;AMYH01010343;AMYH01010344;AMYH01010345;AMYH01010346;AMYH01010347;AMYH01010348;AMYH01010349;BC046631;BC125179;BC125180;BC150247;BM021375;BX647616;CH471053;DA153976;DA168874;DA320230;EF539882;NG_011878;NM_001135659;NM_004801;NM_138735 AAF03536;AAG38120;AAG59602;AAG59642;AAH46631;AAI25180;AAI25181;AAI50248;AAK06387;AAY14894;AAY14944;ABS86974;BAA25504;BAA87821;BAG58597;CAI46085;EAX00182;EAX00183;EAX00184;EAX00185;EAX00186;NP_001129131;NP_004792;NP_620072;P58400;Q9ULB1 Hs.637685 1334808;1338669;1341498;1342291;1652316;1663203;1682319;1683082;1710520;1716207;1719757;1724051;1725499;1730285;1771106;1783924;1784116;1784190;1784268;1848126;2114070;2125491;2133583;2133585;2136377;2141889;2147757;2147931;2171474;2172290 1528;A005B20;A006Y06;D2S1248;D2S1352;D2S185E;D2S2156;D2S2316;D2S2811;G20243;G35313;NRXN1;RH119036;RH119146;RH11979;RH121128;RH123570;RH16667;RH93424;RH98360;SHGC-108032;SHGC-154033;SHGC-155339;SHGC-172604;SHGC-86287;SHGC-9451;STS-M78661;WI-10722;WI-15508;WI-16372 DKFZp313P2036;FLJ35941;Hs.22998;KIAA0578;PTHSL2;SCZD17 OTTHUMP00000159578;OTTHUMP00000200525;OTTHUMP00000201119;OTTHUMP00000201211;OTTHUMP00000228853;neurexin I;neurexin I-alpha;neurexin I-beta;neurexin-1-alpha;neurexin-1-beta APPROVED protein-coding ENSG00000179915 8008 11858 600565;614325;614332 REVIEWED 1313267 NRSN2 neurensin 2 20 20 20 p13 422220 430358 + 275775 283505 + 327370 335512 + 11256614;16527258;16381901;15489336;15489334;14702039;12477932;11780052;11230166;11076863;16169070;16344560;19824122;21139048;21890473 80023 Q9GZP1 ABBA01053747;AK026982;AK290527;AL034548;AL136915;AMYH01011652;AW292804;BC001963;BE792891;CH471133;CR533441;DA708181;NM_024958 AAH01963;BAB15613;BAF83216;CAB66849;CAG38472;CAL38253;EAX10679;EAX10680;NP_079234;Q9GZP1 Hs.416024 1693414;2120295;2160280 A009P19;AL034517;WI-14697 C20orf98;FLJ23329;dJ1103G7.6 OTTHUMP00000029911;OTTHUMP00000029912;chromosome 20 open reading frame 98;neurensin-2 protein-coding ENSG00000125841 16229 12791 610666 VALIDATED 735900 NRXN2 neurexin 2 This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010] 11 11 11 q13 61699904 61817112 - 64130222 64247236 - 64373646 64490660 - 1580863;6480464 19086053;18950845;16554811;15491607;14702039;12421765;12168954;12036300;11944992;10231032;9888998;9707552;9647694;8786425;8576240;1621094;22797727;20634891;16169070;21424692;12477932;21900206;21768215;19523119;23263486 9379 G5E9G7;H7BZC7;H7C2R8;H7C3D6;H7C3J4;P58401;Q9P2S2 AB023138;AB035266;AB177862;ABBA01024148;ABBA01024149;ABBA01024150;AC044790;AK098211;AMYH01003707;AMYH01003708;AMYH01003709;AMYH01003710;AP001092;AP001462;BC150275;CH471076;NM_015080;NM_138732;NM_138734 AAI50276;AAK68154;BAA76765;BAA94075;BAD66840;EAW74277;EAW74278;EAW74279;EAW74280;NP_055895;NP_620060;NP_620063;P58401;Q9P2S2 Hs.372938 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FLJ40892;KIAA0921 OTTHUMP00000042666;OTTHUMP00000069170;OTTHUMP00000069171;OTTHUMP00000202846;neurexin II;neurexin II-alpha;neurexin II-beta;neurexin-2-alpha;neurexin-2-beta APPROVED protein-coding ENSG00000110076 8009 11859 600566 REVIEWED 1346608 NSFP1 N-ethylmaleimide-sensitive factor pseudogene 1 17 17 q21.31 41805745 41935738 + 44450179 44500463 + 16344560 728806 ABBA01137586;AC138645;AC138688;AC217769;AC217777;DA240782;NR_033799 Hs.735097 1724995;1757099;2153628 RH118793;SHGC-144487;SHGC-31272 NSFP APPROVED pseudo 31405 PROVISIONAL 1353595 NRXN3 neurexin 3 This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012] 14 14 q31 77939846 79400515 + 78870093 80330762 + 1580863;6480464 1621094;19086053;18978678;18519826;18029348;17804423;17081983;16344560;14702039;12508121;12477932;12379233;12036300;11944992;9872452;9707552;9628581;8786425;8576240;20703240;19658047;20379614;20398908;19557197;20935630;20724581;21552555;21084300;22391885;22716474;23245376;9448462;8163501;9856994;21358552;21674055;21688152;21676558;22209245;22872573;23383267;23118423;21150319;22959728 9369 G3V247;G3V4R9;H0YJL2;Q9HDB5;Q9UIE2 AB018286;ABBA01030619;ABBA01030620;ABBA01030621;ABBA01030622;ABBA01030623;ABBA01030624;ABBA01030625;ABBA01030626;ABBA01030627;ABBA01030628;ABBA01030629;ABBA01030630;ABBA01030631;ABBA01030632;ABBA01030633;ABBA01030634;ABBA01030635;ABBA01030636;AC007056;AC007058;AC008045;AC008056;AC009396;AC011440;AC012099;AC018514;AC022469;AC026888;AF099810;AF123462;AJ316284;AJ493127;AK056530;AK096247;AK126795;AK310235;AL833739;AMYH01005889;AMYH01005890;AMYH01005891;AMYH01005892;AMYH01005893;AMYH01005894;AMYH01005895;AMYH01005896;BC059368;BC068469;BC142649;BC150194;BC152457;CH471061;DA083962;DA124460;DA128446;DA213090;DA243312;NM_001105250;NM_001272020;NM_004796;NM_138970;NR_073546;NR_073547 AAC68909;AAD13621;AAD41968;AAF09143;AAF15058;AAF21147;AAF28465;AAF61277;AAF87841;AAF99808;AAH59368;AAH68469;AAI42650;AAI50195;AAI52458;BAA34463;BAG51739;BAG53239;CAC87720;CAD37989;CAH56254;EAW81312;EAW81313;EAW81314;EAW81315;EAW81316;EAW81317;EAW81318;NP_001098720;NP_001258949;NP_004787;NP_620426;Q9HDB5;Q9Y4C0 Hs.368307 1335242;1338921;1339678;1340965;1645673;1660786;1672682;1673761;1692048;1693788;1694568;1695132;1695788;1704154;1704232;1705720;1707282;1708554;1709646;1710272;1712937;1712939;1714345;1717583;1719567;1719745;1723969;1726377;1730313;1731323;1731573;1748521;1750875;1752335;1755719;1757491;1760933;1769928;1772109;1775370;1853153;2117385;2122301;2129031;2134375;2135551;2136037;2146691;2151402;2156123;2156194;2160473;2164824;2178455;2180967;5014051;5016478;5022200;5037552;5118444;7186013 AFM267YG9;AFM280va5;AL034006;D11S3316;D14S1008;D14S110E;D14S1323;D14S243;D14S287;D14S762;D14S862;D14S868;D14S95E;D16S3027;D1S1190;D8S2278;D8S2279;G15990;G17817;G35388;G35504;G35636;G35944;G36001;G36312;G36313;G43263;G48206;G62489;GDB:434012;L18426;RH118934;RH119952;RH120558;RH120559;RH122097;RH123563;RH123687;RH70976;RH78382;SGC31195;SHGC-104647;SHGC-106288;SHGC-142566;SHGC-144860;SHGC-144872;SHGC-58924;SHGC-60215;SHGC-79243;SHGC-79776;SHGC-82549;SHGC-83148;SHGC-83446;SHGC-85059;SHGC-85186;SHGC-85230;STS-AA021057;WI-10441;WI-13595;WI-22695 C14orf60;KIAA0743;MGC176711 OTTHUMP00000246243;OTTHUMP00000246246;OTTHUMP00000246248;OTTHUMP00000246249;OTTHUMP00000246250;OTTHUMP00000246251;neurexin 3;neurexin III;neurexin III-alpha;neurexin III-beta;neurexin-3-alpha;neurexin-3-beta APPROVED protein-coding ENSG00000021645 8010 08989 600567 REVIEWED 1607078 NSA2 NSA2 ribosome biogenesis homolog (S. cerevisiae) This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] 5 5 5 q13.3 69957855 69967486 + 74098859 74108490 + 74063103 74072734 + 6480464 22095236;16861225;15635413;15489334;12477932;12429849;11124703;10486207;17207965;19932687;22178446;21139048;22586326 10412 H0YAI9;O95478;Q5J7U2 AA830219;AA921837;ABBA01061935;AC093214;AF077615;AF372458;AJ012409;AK313784;AMYH01015407;AY443419;BC005288;BQ775601;CB052084;CH471084;CS300555;HY021659;NM_001271665;NM_014886;NR_073403 AAG43048;AAH05288;AAK53761;AAS00024;ADQ31872;BAG36522;CAA10008;CAK32219;EAW95749;NP_001258594;NP_055701;O95478 Hs.482526 1645466;5117182;5124619;5124994 GDB:451643;RH67927;RH68291;SHGC-32964 CDK105;HCL-G1;HCLG1;HUSSY-29;HUSSY29;TINP1;YR-29 OTTHUMP00000161947;TGF beta-inducible nuclear protein 1;TGF-beta inducible nuclear protein;TGF-beta-inducible nuclear protein 1;hairy cell leukemia protein 1;ribosome biogenesis protein NSA2 homolog APPROVED protein-coding 30728 18191 612497 REVIEWED 1317121 NSD1 nuclear receptor binding SET domain protein 1 This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 5 5 q35 176493532 176655369 + 176560080 176727214 + 1580863;6480464;6907045;7240710 11509567;19039236;18001468;17589499;17565729;17561922;17437319;16780628;16010675;15942875;15742365;15640245;15623156;15580547;15539801;15382262;15365454;15362962;15169884;15146197;14997421;14702039;12931227;12807965;12687502;12676901;12525543;12464997;11896389;11733144;11493482;11266437;9628876;8889548;20837538;12477932;19545651;19596467;19876911;20080798;20420030;20301652;21196496;21806967;21030982;21813447;21597970;21139048;21890473;21972110;22586326;22703881;20301568;20963938;23190751 64324 D6RA58;D6RA90;D6RBP3;D6RBV9;D6RE14;D6RG26;H7BYB0;Q96L73;Q96MN8 ABBA01033458;ABBA01033459;ABBA01033460;ABBA01033461;ABBA01033462;ABBA01033463;ABBA01033464;ABBA01033465;ABBA01033466;ABBA01033467;ABBA01033468;ABBA01033469;ABBA01033470;ABBA01033471;ABBA01033472;AC008570;AC027314;AC146507;AF085858;AF322907;AF380302;AF395588;AK001546;AK025916;AK026066;AK055187;AK056667;AK091358;AK126591;AL832983;AMYH01015869;AMYH01015870;AMYH01015871;AMYH01015872;AY049721;BC021961;BC139789;BC144629;BC150628;CH471195;CK300021;CN333750;NG_009821;NM_022455;NM_172349 AAH21961;AAI39790;AAI50629;AAK92049;AAL06645;AAL27991;AAL40694;BAB15281;BAB15346;BAB70868;BAB71247;BAC03645;CAH56331;EAW85031;EAW85032;EAW85033;NP_071900;NP_758859;Q96L73 Hs.106861 1652200;1661824;1665507;1665509;1676624;1688442;1740405;1740461;1780764;1795202;2127569;2137213;2168805;2191033;5020948 D5S2221E;D5S2260E;G35510;Hrmt1l2;MARC_13653-13654:1002893061:1;RH18384;RH68619;RH80203;RH92299;SGC34971;SHGC-24370;WI-11713;WI-14959;WI-21083;bac51977T ARA267;DKFZp666C163;FLJ10684;FLJ22263;FLJ44628;KMT3B;SOTOS;SOTOS1;STO H3-K36-HMTase;H4-K20-HMTase;NR-binding SET domain-containing protein;OTTHUMP00000161431;OTTHUMP00000161432;androgen receptor coactivator 267 kDa protein;androgen receptor-associated coregulator 267;androgen receptor-associated protein of 267 kDa;histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific;lysine N-methyltransferase 3B;nuclear receptor-binding SET domain-containing protein 1 APPROVED protein-coding ENSG00000165671 14234 09455 117550;130650;277590;601626;606681 REVIEWED 1343590 NSDHL NAD(P) dependent steroid dehydrogenase-like The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008] X X q28 151750167 151788563 + 151999511 152037907 + 1580863;2316868;2316857;6480464;7240710 12668600;16876788 11907515;10710235;14506130;11256614;18029348;19027726;18660489;17498944;16381901;16230564;15805545;15489336;15489334;12966526;12837764;12477932;11076863;10854409;8828037;8828036;8439729;1602151;19906044;19880419;20403997;21129721;14741744;19805454;21963094;23000965;22113624;21139048;21890473;21906983;21290788;22053931 50814 C9JDR0;Q15738 ABBA01043690;ABBA01043691;ABBA01043692;AK026549;AMYH01023250;BC000245;BC007816;CH471172;NG_009163;NM_001129765;NM_015922;U47105;U82671 AAC50558;AAH00245;AAH07816;ABM83414;ABM86625;CAL38054;CAL38546;EAW72897;EAW72898;EAW72899;NP_001123237;NP_057006;Q15738 Hs.57698 1341202;1688923 DXS8061;RH80836 H105E3;SDR31E1;XAP104 OTTHUMP00000025902;OTTHUMP00000025903;protein H105e3;short chain dehydrogenase/reductase family 31E, member 1;sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating APPROVED protein-coding ENSG00000147383 13398 02229 300275;300831;308050 REVIEWED 733160 NSF N-ethylmaleimide-sensitive factor 17 17 q21 42023354 42190000 + 44668035 44834830 + 1580863;5147998;6480464;6907045 11226670 17353931;19167335;19208619;19086053;18836734;18077426;17510209;16461345;16169070;15858065;15489334;15322554;15293277;14769786;14607937;14567912;12477932;12130635;12011465;11680900;11511104;11461150;11403936;10954749;10903204;10747018;10683148;10196135;9697855;9362506;9349823;9325254;9286697;8973549;8940356;8875895;8636227;8051214;8013662;7622514;1315316;10458612;21145461;12554740;16055064;16724110;19533740;19615732;19915575;20176016;20398908;20468064;18029348;20711177;16417406;20562859;21324905;22939629;21426264;15613468;21252943;16396496;23544013;23798571;21139048;21906983;21812969;16027165;21680744;22808325 4905 B4DFA2;I3L0L3;I3L0N3;I3L2G1;I3L338;I3L4Q9;K7EQD6;P46459 ABBA01041103;AC004098;AC138645;AC138688;AC217769;AC217775;AC217778;AC217780;AF102846;AF135168;AK226078;AK290204;AK294001;AK294727;AK294886;AK299031;AK299786;AK316057;AMYH01008444;BC013314;BC030613;BM451383;CH471231;CQ871246;DB460965;NM_006178;NR_040116;U03985;U80997 AAA17411;AAF04745;AAF70545;AAG23890;AAH13314;AAH30613;BAF82893;BAG57363;BAG57874;BAG57980;BAG61667;BAH12933;BAH14428;CAH56804;EAW57706;EAW57707;NP_006169;P46459 Hs.431279 1339226;1663789;1724995;1739499;1757099;2109579;2153628;5491975 D17S1703;D17S1931;D17S920;NSF-1;NSF_8513;RH118793;SHGC-144487;SHGC-31272 SKD2 N-ethylmaleimide-sensitive factor-like protein;N-ethylmaleimide-sensitive fusion protein;NEM-sensitive fusion protein;OTTHUMP00000166031;vesicle-fusing ATPase;vesicular-fusion protein NSF protein-coding ENSG00000073969 8016 03380 601633 VALIDATED 737576 NSG1 neuron specific gene family member 1 4 4 4 p16.3 4285777 4318783 + 4438884 4471686 + 4387983 4420785 + 6480464 9013775;15489334;14702039;12477932;12070131;20599942;21084623;20878061 27065 B2R5R8;P42857 ABBA01008244;ABBA01008245;AC110814;AK094573;AK125065;AK125172;AK299657;AK301911;AK312288;AMYH01013902;AMYH01013903;BC001745;BC034227;CH471131;M98528;M98529;M98534;NM_001040101;NM_014392 AAA60152;AAA60355;AAH01745;AAH34227;BAG35215;BAG52889;BAG54158;BAG61574;BAG63337;EAW82430;EAW82431;EAW82432;NP_001035190;NP_055207;P42857 Hs.518595 1675245;1771272;1851368;2132726;2133930;2142316;2150803;2156169;2171808;2177217;5022322;5037552 D11S2560;D4S3228;D8S2279;RH69826;SHGC-30318;SHGC-30353;SHGC-50343;SHGC-59558;SHGC-67907;STS-D51228;WI-17747;WIAF-2557 D4S234;D4S234E;NEEP21;P21 OTTHUMP00000155127;OTTHUMP00000159148;OTTHUMP00000217301;OTTHUMP00000217302;OTTHUMP00000217303;OTTHUMP00000217304;OTTHUMP00000217305;brain neuron cytoplasmic protein 1;brain specific mrna b;carboxyterminally EE-tagged neuron-enriched endosomal 21 kDa protein;neuron-specific protein family member 1 APPROVED protein-coding ENSG00000168824 09624 607645 VALIDATED 1352100 NSMAF neutral sphingomyelinase (N-SMase) activation associated factor This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] 8 8 8 q12-q13 55489087 55565423 - 59658617 59734940 - 59496063 59572404 - 1580863;6480464;6484113 8808629;18653803;15653433;12477932;12391233;10640829;10601289;9620659;19913121;20628086;20562859;21906983;23382691;17599063 8439 E5RGF5;E5RGU2;Q92636 ABBA01041789;ABBA01041790;AC068522;AC092700;AK292679;AK294009;AK313991;AMYH01018743;BC041124;CH471068;DR005814;NM_001144772;NM_003580;X96586 AAH41124;BAF85368;BAG36703;BAG57371;CAA65405;EAW86817;NP_001138244;NP_003571;Q92636 Hs.372000 2138273;2138275;2155362;2179771 D8S1515;RH11476;SHGC-24319;STS-W93092 FAN OTTHUMP00000226511;OTTHUMP00000226512;factor associated with N-SMase activation;factor associated with neutral sphingomyelinase activation;protein FAN APPROVED protein-coding ENSG00000035681 8017 09117 603043 REVIEWED 1350522 NSMCE1 non-SMC element 1 homolog (S. cerevisiae) 16 16 16 p12.1 26014952 26058084 - 27143816 27187614 - 27236315 27280113 - 737633;6480464 12477932 15489334;14702039;11927594;11042152;8889548;22992278;14701739;19471022;21139048;21890473;18086888;20360068;20864041;21364888;16055714 197370 H3BN81;H3BR31;H3BR73;H3BSL0;H3BV05;I3L1I3;Q8WV22 ABBA01017151;ABBA01017152;ABBA01017153;AC106739;AF161451;AF161455;AK056795;AK315674;AMYH01007403;BC018938;BU685363;CH471145;DB463393;NM_145080 AAF29011;AAF29015;AAH18938;BAG38039;EAW55754;EAW55755;EAW55756;EAW55757;EAW55758;NP_659547;Q8WV22 Hs.284295 1684822;2180212 RH65044;SHGC-60583 NSE1 OTTHUMP00000162452;non-structural maintenance of chromosomes element 1 homolog protein-coding ENSG00000169189 29897 17648 VALIDATED 3129369 NSRP1P1 nuclear speckle splicing regulatory protein 1 pseudogene 1 1 1 76552367 76554058 + 78312793 78314484 + 100420557 ABBA01074393;AC138392;AMYH01000722;NG_022784 CCDC55P1 APPROVED pseudo 38087 INFERRED 734170 NSFL1C NSFL1 (p97) cofactor (p47) N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011] 20 20 20 p13 1519162 1544783 - 1370811 1396417 - 1422807 1448337 - 6480464;6907045 16275660;19165527;17081983;15489334;15302935;14702039;12810701;12529442;12477932;12473691;12411482;11780052;11042152;10931946;9506515;9214505;9110174;8125298;16169070;16234241;19285159;22466964;19615732;16344560;22863883;22939629;22990857;21963094;23000965;23649807;18775313;18781797;21900206;21987572;21139048;21890473;21906983;16807242;20414249;21949850;22053931;22105171;22350894;22505724;23042607 55968 F2Z2K0;G3V4V8;J3QK90;Q53FE8;Q9UI06;R4GMY2;R4GNE6 AA948047;ABBA01053771;AF078856;AF086909;AF112211;AF283774;AK001511;AK023585;AK093845;AK128722;AK223334;AK223341;AK297403;AK315433;AL109658;AMYH01011663;BC002801;BE795675;BQ007132;CH471133;DB173022;DB202404;NM_001206736;NM_016143;NM_018839;NR_038164 AAD44488;AAF17199;AAH02801;AAP97139;ABM84115;ABM87512;BAA91731;BAC87590;BAD97054;BAD97061;BAG37821;BAG52771;BAG59842;EAX10627;EAX10628;EAX10629;EAX10630;EAX10631;EAX10632;NP_001193665;NP_057227;NP_061327;Q9UNZ2 Hs.12865 1680018;1773131;2114787;2120808;2120810;2124631;2138216;2172342;2219204 A006H16;D20S562E;D20S735;G20805;NSFL1C__6077;RH80523;SGC44590;WI-20603;Z94488 FLJ46889;MGC3347;P47;UBX1;UBXD10;UBXN2C;dJ776F14.1 NSFL1 cofactor p47;OTTHUMP00000029972;OTTHUMP00000029973;OTTHUMP00000029974;OTTHUMP00000029976;OTTHUMP00000159829;SHP1 homolog;UBX domain protein 2C;UBX domain-containing protein 2C;p47 protein;p97 cofactor p47 APPROVED protein-coding ENSG00000088833 15912 09425 606610 REVIEWED 1351028 NSUN3 NOP2/Sun domain family, member 3 3 3 3 q11.1 92165741 92229276 + 95264545 95328320 + 93781855 93845630 + 737633;6480464 12477932 19240061;17207965;21890473 63899 F8WF52;Q9H649 ABBA01026968;ABBA01026969;AC019233;AC130896;AF169972;AK026262;AMYH01013339;BC018432;BC020602;BC057238;CH471052;NM_022072 AAH20602;AAH57238;AAQ13600;ADQ32107;BAB15417;EAW79893;EAW79894;NP_071355;Q9H649 Hs.448003 1674035;1678817;1681157;1681416;1686985;1755847;1770948;5109281 D1S1425;RH35958;RH41657;RH69243;RH80683;SHGC-142686;SHGC-33570;SHGC-36500 FLJ22109;FLJ22609;MST077;MSTP077 NOL1/NOP2/Sun domain family 3;NOL1/NOP2/Sun domain family member 3;NOL1/NOP2/Sun domain family, member 3;OTTHUMP00000213873;putative methyltransferase NSUN3 APPROVED protein-coding 26208 08657 PROVISIONAL 1345295 NSL1 NSL1, MIS12 kinetochore complex component This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q41 186125542 186191151 - 210966118 211031762 - 212899495 212965139 - 6480464 15502821;16585270;17604136;16710414;16565220;16344560;15489334;14702039;12477932;8125298;20404110;17981135;20231385;20379614;22939629;20562864;21906983;20360068;18029348;21199919;20819937;21963094;21988832;22869522 25936 H7BY54;Q53FM2;Q5SY74;Q5SY76;Q96IY1 AA806390;ABBA01048165;ABBA01048166;AC104333;AF201941;AF255793;AK092359;AK124596;AK222996;AK223260;AK303250;AK313730;AL050084;AL591647;AMYH01001710;BC007067;BC036048;BQ023978;BU570983;CH471100;DB045932;NM_001042549;NM_015471 AAF86877;AAG44640;AAH07067;ABM83825;ABM87148;BAD96716;BAD96980;BAG36472;BAG64333;CAB43260;EAW93379;EAW93380;NP_001036014;NP_056286;Q96IY1 Hs.497692 1646968;1684938;1769357;1770177;1770271;1771564;1774994;2119254;5016596;5022450 A007A25;D10S275;G29144;GDB:631802;RH67848;SHGC-32332;SHGC-76316;SHGC-76318;SHGC-76326;SHGC-76329 C1orf48;DC8;DKFZp566O1646;MIS14 NSL1, MIND kinetochore complex component, homolog;OTTHUMP00000034928;OTTHUMP00000034929;kinetochore-associated protein NSL1 homolog APPROVED protein-coding 24548 12378 609174 REVIEWED 1319136 NSMCE4A non-SMC element 4 homolog A (S. cerevisiae) 10 10 10 q26.13 117448572 117466711 - 123706593 123724700 - 123716603 123734743 - 737633;6480464 12477932 15498874;15489334;15164054;14702039;8125298;15752197;16344560;18086888;20360068;20864041;21139048;21906983 54780 B4DWS2;Q9NXX6 ABBA01062852;ABBA01062853;AF258584;AK000010;AK056579;AK222487;AK301658;AK308687;AL731566;AMYH01003131;BC005212;BC062427;CH471066;DA567626;NM_001167865;NM_017615 AAG23787;AAH05212;AAH62427;BAA90881;BAD96207;BAG63134;EAW49330;EAW49331;EAW49332;EAW49333;NP_001161337;NP_060085;Q9NXX6 Hs.258798 1781264;1782058 SHGC-153329;stSG72444 C10orf86;FLJ20003;NS4EA;NSE4A;RP11-500G22.3;bA500G22;bA500G22.3 OTTHUMP00000020640;chromosome 10 open reading frame 86;non-structural maintenance of chromosomes element 4 homolog A protein-coding ENSG00000107672 25935 16585 612987 VALIDATED 733597 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 9 9 9 q34.3 110868305 110878574 - 139462498 139473575 - 140342022 140353786 - 737633;6480464 12477932 16713569;19489874;19245807;18463157;16565220;15489334;15362570;15164053;15146197;14702039;11230166;10898796;16169070;20025934;21300340 26012 F5GZW0;F5H603;Q5T358;Q5T359;Q9NPP3 ABBA01022773;ABBA01022774;AJ420418;AK027474;AK074602;AK292030;AK294320;AK303703;AK303976;AK316046;AL117660;AL365502;AL389944;AL389945;AL389946;AMYH01021907;AW072125;AY255128;AY255129;AY255130;AY255131;AY255132;BC004318;BC016862;BC072412;BC110498;BM023184;CH471090;CN306732;CQ782572;NG_021362;NM_001130969;NM_001130970;NM_001130971;NM_001178064;NM_015537 AAH04318;AAH16862;AAH72412;AAI10499;AAP83576;AAP83577;AAP83578;AAP83579;AAP83580;BAB55139;BAC11086;BAF84719;BAG57594;BAG64688;BAH14089;BAH14417;CAB56031;CAB97524;CAB97525;CAB97542;CAF85849;EAW88390;EAW88391;EAW88392;EAW88393;EAW88394;NP_001124441;NP_001124442;NP_001124443;NP_001171535;NP_056352;Q6X4W1 Hs.455336 1660445;1796400 IB1002;NELF_1409 HH9;MGC125369;NELF;RP11-48C7.1 OTTHUMP00000022698;OTTHUMP00000022699;nasal embryonic LHRH factor;nasal embryonic luteinizing hormone-releasing hormone factor APPROVED protein-coding ENSG00000165802 29843 10485 608137;614838 REVIEWED 1348039 NSUN2 NOP2/Sun RNA methyltransferase family, member 2 This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011] 5 5 5 p15.31 6626418 6660533 - 6652352 6686157 - 6599352 6633473 - 737633;6480464;7240710 12477932 17071714;17215513;15345747;15302935;14702039;17620599;22395603;22586326;22589738;22136356;21145461;19913121;20628086;17148452;19596847;19740597;20379614;22863883;22939629;18029348;19738201;21963094;22623428;23000965;18781797;19596686;20360068;21987572;22577224;21252943;19471022;21139048;21693764;21890473;21906983;22541559;22541562;21853274;22505724 54888 D6RAS3;G3V1R4;H0YA97;Q08J23 AB255451;ABBA01016148;AC010366;AC027334;AK000310;AK023994;AK055456;AK291144;AK298980;AMYH01014880;BC001041;BC137083;BF000644;BG387061;BQ689094;CH471102;NG_028215;NM_001193455;NM_017755;NR_037947 AAH01041;AAI37084;BAA91075;BAB14762;BAF34150;BAF83833;BAG51521;BAG61074;EAX08105;EAX08106;EAX08107;NP_001180384;NP_060225;Q08J23 Hs.481526 1675716;2163764 D5S2678;RH92904 FLJ20303;MISU;MRT5;SAKI;TRM4 5-methycytoisine methyltransferase;Myc-induced SUN-domain-containing protein;NOL1/NOP2/Sun domain family 2;NOL1/NOP2/Sun domain family member 2;NOL1/NOP2/Sun domain family, member 2;NOP2/Sun domain family, member 2;OTTHUMP00000115518;OTTHUMP00000220641;hTrm4;myc-induced SUN domain-containing protein;substrate of AIM1/Aurora kinase B;tRNA (cytosine(34)-C(5))-methyltransferase;tRNA (cytosine-5-)-methyltransferase NSUN2;tRNA methyltransferase 4 homolog APPROVED protein-coding ENSG00000037474 25994 08620 610916;611091 REVIEWED 1606915 NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae) 8 8 8 q24.13 122293246 122568218 + 126173277 126448544 + 126104083 126379367 + 6480464 18163389;16810316;16055714;15489334;14702039;12477932;19549807;19666737;20379614;20460480;19502785;20339536;17207965;20360068;21550342;17589526;18086888;19471022;21139048;21693764;21890473;21906983;22751501 286053 E5RFJ1;E5RG00;E5RHW9;E5RIM1;E5RK09;H0YB96;Q96MF7 AA580621;ABBA01037908;ABBA01037909;ABBA01037910;ABBA01037911;ABBA01037912;ABBA01037913;ABBA01037914;ABBA01037915;ABBA01037916;AC084083;AC126366;AK057002;AMYH01019010;BC032797;CB217595;CH471060;NM_173685 AAH32797;ADQ31599;BAB71338;EAW92083;EAW92084;NP_775956;Q96MF7 Hs.388297 1341422;1644938;1660159;1739359;1740127;1780220;1848073;1853522;2138801;2154167;2155601;2155603;2169906 A005O09;A009A17;D8S1461;D8S1571E;D8S1688;D8S371;G20371;RH11704;RH36272;RH36327;SHGC-154637;SHGC-33154;SHGC-56887 C8orf36;FLJ32440;MMS21;NSE2;ZMIZ7 E3 SUMO-protein ligase NSE2;MMS21 homolog;OTTHUMP00000228154;OTTHUMP00000228181;OTTHUMP00000228183;hMMS21;methyl methanesulfonate sensitivity gene 21;non-SMC element 2 homolog;non-structural maintenance of chromosomes element 2 homolog;zinc finger, MIZ-type containing 7 protein-coding ENSG00000156831 26513 08131 VALIDATED 1604770 NSRP1 nuclear speckle splicing regulatory protein 1 17 17 17 q11.2 25305435 25375213 + 25467960 25537612 + 28443825 28513493 + 6480464 11256614;19047128;17081983;16964243;16381901;15489336;15489334;14702039;12477932;11230166;11076863;21832049;22990118;19471022;19953087;21555454 84081 B7ZL27;H7BYM1;J3KT62;J3QLV5;J3QRI6;J3QS82;K7EK40;K7EMD8;K7EQJ6;K7ERM9;Q9H0G5 AA811439;ABBA01015004;ABBA01015005;AC104984;AF161358;AK094552;AK297102;AK313963;AL136806;AMYH01008298;AMYH01008299;AMYH01008300;BC016313;BC040118;BC046116;BC062425;BC105044;BC105046;BC143417;BC143539;CB957325;CH471159;CR533555;DC327004;NM_001261467;NM_032141 AAF28918;AAH16313;AAH40118;AAI05045;AAI05047;AAI43540;BAG36679;BAH12497;CAB66740;CAG38586;CAL37583;CAL37597;EAW51220;EAW51221;EAW51222;NP_001248396;NP_115517;Q9H0G5 Hs.462663 1678841;1683389;2179067 RH15872;RH28307;STS-T98371 CCDC55;DKFZp434K1421;FLJ37233;HSPC095;NSrp70 OTTHUMP00000163639;coiled-coil domain containing 55;coiled-coil domain-containing protein 55;nuclear speckle splicing regulatory protein 1;nuclear speckle-related protein 70 APPROVED protein-coding ENSG00000126653 25305 08536 VALIDATED 1349612 NSX N syndrome (mental retardation, malformations, chromosome breakage) 7240710 4906 8019 310465 1349655 NT3 3'-nucleotidase 4877 8020 613589 1343230 NSUN4 NOP2/Sun domain family, member 4 1 1 1 p34 45093753 45118052 + 46578977 46603277 + 46805849 46830824 + 6480464 19086053;16189514;14702039;12477932;22949673;20562859;20186120;16344560;8889548;21890473;19322201 387338 A8K8I8;M0R1K5;Q96CB9 ABBA01050840;AK021577;AK057420;AK097524;AK128066;AK291741;AK292353;AK295003;AK311009;AL122001;AMYH01000587;BC014441;BC016907;BE542166;BG821302;BM153143;BM665392;BM888153;BM994678;BU536211;BX360729;BX648592;CF593490;CH471059;DA799314;DA905308;NM_001256127;NM_001256128;NM_199044;NR_045789;NR_045790;NR_045791 AAH14441;AAH16907;BAB13847;BAC87258;BAF84430;BAF85042;BAG51912;BAG53482;BAG58065;EAX06917;EAX06920;NP_001243056;NP_001243057;NP_950245;Q96CB9 Hs.163424 1662308;1664289;2119347;2132942;2173493;5017227;5020740;5037552 Cda0gf06;D1S2196;D1S2603;D8S2279;G38154;L17809;SHGC-74783;SHGC-74793 FLJ18051;MGC22960;RP4-603I14.2;SHTAP 5-methylcytosine rRNA methyltransferase NSUN4;NOL1/NOP2/Sun domain family 4;NOL1/NOP2/Sun domain family member 4;NOL1/NOP2/Sun domain family, member 4;OTTHUMP00000009478;putative methyltransferase NSUN4;sperm head and tail associated protein APPROVED protein-coding 31802 14842 VALIDATED 1604983 NSUN5P1 NOP2/Sun domain family, member 5 pseudogene 1 This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 7 7 q11.23 74877582 74884001 + 75039624 75046065 + 15489334;14702039;12477932;12073013;11978965;16344560 155400 Q3KNT7 ABBA01186092;AC006014;AC211429;AF416610;AI265798;AK094312;AK126486;AK128374;AMYH01017552;AW575486;BC044928;BC065512;BC080602;BC088379;BC093978;BC103750;BC107112;BG741008;BX400367;DB270164;NR_033322;NR_104013 AAH93978;AAI07113;AAM62318;BAG52857;BAG54336;BAG54668;Q3KNT7 Hs.436034;Hs.510927 1665971;1672615;1754003;5019194;5126315;5126783;5127148;5127388;5493011 D7S2868;GDB:1318657;GDB:4584996;GDB:4585069;GDB:4585440;RH104432;RH10987;SHGC-132050;UniSTS:483688 FLJ99347;MGC129801;NSUN5B;WBSCR20B APPROVED pseudo ENSG00000223705 19146 15656 VALIDATED 1606412 NSUN5P2 NOP2/Sun domain family, member 5 pseudogene 2 This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013] 7 7 q11.23 72056768 72063222 - 72418832 72425302 - 15489334;14702039;12477932;12073013;11978965;16344560;21906983 260294 Q3KNT8;Q63ZY6 AC005488;AC211476;AF416611;AF420250;AK021688;AK292107;AK303622;AK315927;AL117583;AL833016;AMYH01017531;BC007488;BC050591;BC056405;BC066297;BC082753;BC093976;BC101515;BC106049;BC107111;DA017627;NR_033323 AAH56405;AAH82753;AAH93976;AAI01516;AAI06050;AAI07112;AAL16068;AAM62319;BAB13875;BAF84796;BAG64631;BAH14298;CAH56289;Q63ZY6 Hs.510927;Hs.655217 1665971;1672615;1754003;1790403;5019194;5096546;5125662;5126315;5126783;5127148;5493011 D7S2868;D7S3263;GDB:4584996;GDB:4585069;GDB:4585440;RH104432;RH10987;SHGC-132050;STS-W72988;UniSTS:483688;WI-20883 DKFZp434K058;DKFZp666P104;FLJ11626;MGC129801;MGC15057;NOL1R2;NSUN5C;WBSCR20B;WBSCR20C APPROVED pseudo ENSG00000106133 16609 15657 VALIDATED 1602865 NSUN7 NOP2/Sun domain family, member 7 4 4 4 p14 41194556 41255316 + 40446699 40506759 + 40751914 40812002 + 6480464 17442852;14702039;12477932;17207965 79730 Q8NE18 ABBA01014256;ABBA01014257;ABBA01014258;AC131953;AK024063;AK094298;AK304048;AMYH01014129;BC036568;BC042401;CH471069;NM_024677 AAH36568;ADQ32516;BAB14808;BAC04325;BAG64958;EAW92970;EAW92971;EAW92972;EAW92973;NP_078953;Q8NE18 Hs.570821 1660287;1685862;1708990 RH98348;SHGC-79559;STS-N27935 FLJ14001 NOL1/NOP2/Sun domain family member 7;NOL1/NOP2/Sun domain family, member 7;OTTHUMP00000158753;OTTHUMP00000158754;putative methyltransferase NSUN7 APPROVED protein-coding ENSG00000179299 25857 07846 VALIDATED 1319518 NSUN5 NOP2/Sun domain family, member 5 This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 68194805 68201154 - 72355162 72360759 - 72716514 72722864 - 6480464 15489334;15302935;14702039;12853948;12477932;12073013;11978965;9847074;16712791;15146197;22939629;21139048;21890473;21906983;21963094;22505724;22797925 55695 H7C2G6;Q96P11 ABBA01063963;AC073841;AC211485;AF412028;AF420249;AK001129;AK098619;AK125667;AK126375;AK298221;AK315361;AMYH01017531;BC008084;BM144254;CB154882;CH471200;CN418523;CS072322;CX866878;EC442348;NM_001168347;NM_001168348;NM_018044;NM_148956 AAH08084;AAL16067;AAM62310;AAQ96838;AAQ96839;ABM83920;ABM87241;BAA91515;BAG37756;BAG54316;BAG60491;CAI93460;EAW69692;EAW69694;EAW69695;EAW69696;NP_001161819;NP_001161820;NP_060514;NP_683759;Q96P11 Hs.647060 2115167;5019194;5096546;5125662;5126315;5127148 GDB:4584996;RH104432;RH10987;SHGC-56093;STS-W72988;WI-20883 FLJ10267;MGC986;NOL1;NOL1R;NSUN5A;WBSCR20;WBSCR20A;Ynl022cL;p120 NOL1-related protein;NOL1/NOP2/Sun domain family member 5;NOL1/NOP2/Sun domain family, member 5;NOP2/Sun domain family, member 5A;OTTHUMP00000160309;OTTHUMP00000160310;OTTHUMP00000210652;OTTHUMP00000210653;Williams Beuren syndrome chromosome region 20A;Williams-Beuren syndrome critical region protein 20 copy A;putative methyltransferase NSUN5;williams-Beuren syndrome chromosomal region 20A protein APPROVED protein-coding ENSG00000130305 16385 11678 REVIEWED 1348422 NT5C3AP1 5'-nucleotidase, cytosolic IIIA pseudogene 1 4 4 4 q26 115787583 115789275 - 118715387 118716829 - 118495644 118497341 - 11369620;9847074 90859 ABBA01063868;AC092661;AMYH01014482;NG_000948 1811330;1812254;1823880;1829954;1869360;1869362;1869364;1869366;1869368;1869370;1869372;1869374;1869376;1869378;1869380;1869382;1869384;1869386;1869388;1869390;1869392;2116307;2198460 ECD06663;ECD07134;ECD13033;ECD16110;REN5350;REN5351;REN5352;REN5353;REN5354;REN5355;REN5356;REN5357;REN5358;REN5359;REN5360;REN5361;REN5362;REN5363;REN5364;REN5365;REN5366;RH16522;stSG618294 NT5C3P1;UMPH1P APPROVED pseudo 18530 INFERRED 1344487 NSUN6 NOP2/Sun domain family, member 6 10 10 10 p12.31 18521149 18626065 - 18874496 18980556 - 18834264 18940550 - 1580863;6480464 15489334;15164054;14702039;12477932;21044367;17207965;20379614;19322201 221078 Q8TEA1 ABBA01034535;ABBA01034536;ABBA01034537;AK074323;AL450384;AL512641;AMYH01002154;AMYH01002155;AMYH01002156;BC035778;BF434081;CH471072;EF445003;NM_182543 AAH35778;ACA06032;ACA06033;ADQ31757;BAB85051;EAW86191;EAW86192;NP_872349;Q8TEA1 Hs.396175 1340045;1647303;1721951;1733554;2159770;5128145 D10S1714;DXS6770;G59861;RH45948;SHGC-152479;STS-N53476 4933414E04Rik;FLJ23743;NOPD1 NOL1/NOP2/Sun and PUA domain-containing protein 1;NOL1/NOP2/Sun domain family 6;NOL1/NOP2/Sun domain family member 6;NOL1/NOP2/Sun domain family, member 6;OTTHUMP00000019261;nucleolar protein (NOL1/NOP2/sun) and PUA domains 1;putative methyltransferase NSUN6 APPROVED protein-coding ENSG00000241058 23529 14843 VALIDATED 5013866 NT5C1B-RDH14 NT5C1B-RDH14 readthrough This locus represents naturally occurring read-through transcription between the neighboring NT5C1B (5'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14) genes on chromosome 2. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010] 2 p 18735989 18770846 - 14702039;20967262 100526794 C9J2C7;Q96M25 ABBA01018502;AC079148;AK057444;AK307653;AMYH01010144;NM_001199103;NM_001199104 BAB71489;NP_001186032;NP_001186033 Hs.120319 1698672;2219618 RDH14__5475;RH102895 FLJ32882;FLJ97601 NT5C1B-RDH14 protein;NT5C1B-RDH14 read-through transcript;OTTHUMP00000200496;OTTHUMP00000220360 APPROVED protein-coding 38831 VALIDATED 1353333 NT5CP1 5',3'-nucleotidase, cytosolic pseudogene 1 14 14 14 q24.3 54073798 54074453 - 73107355 73108210 - 74037701 74038356 - 9847074 326609 ABBA01030752;AC005225;AMYH01005845;NG_002598 1740767 D14S1209 pseudo 20046 INFERRED 1349114 NT5CP2 5',3'-nucleotidase, cytosolic pseudogene 2 14 14 14 q24.3 33183015 33183872 + 73075432 73076289 - 74005679 74006536 - 9847074 326611 ABBA01030756;AC005225;AMYH01005845;NG_002599 1740767 D14S1209 pseudo 20047 INFERRED 5130584 NT5CP3 5',3'-nucleotidase, cytosolic pseudogene 3 13 13 51389000 51389520 - 70486996 70487516 - 100420457 ABBA01050311;AL353738;AMYH01005193;NG_024866 pseudo 39789 INFERRED 1322084 NT5C1A 5'-nucleotidase, cytosolic IA Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008] 1 1 1 p34.3-p33 38406541 38419451 - 39897380 39910297 - 40124793 40137710 - 1580863;6480464;6907045 17065091;16710414;15888028;15489334;12477932;11690631;11133996;19352542;19451621;21873433 84618 Q9BXI3 ABBA01023205;ABBA01023206;AF331801;AL035404;AMYH01000524;AY028778;BC103879;BC103880;CH471059;NM_032526 AAI03880;AAI03881;AAK01294;AAK30000;EAX07259;NP_115915;Q9BXI3 Hs.307006 1732936 D1S1334 CN-I;CN-IA;CN1;CN1A;CNI;MGC119199;MGC119201 AMP-specific 5'-NT;OTTHUMP00000010831;cytosolic 5' nucleotidase, type 1A;cytosolic 5'-nucleotidase 1A;cytosolic 5'-nucleotidase IA APPROVED protein-coding ENSG00000116981 17819 14844 610525 PROVISIONAL 1354038 NT5C1B 5'-nucleotidase, cytosolic IB Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008] 2 2 2 p24.2 18625400 18652107 - 18607618 18634319 - 18744137 18770846 - 1580863;6480464;6907045 14702039;12477932;11690631;16344560;20125193;20392501;23568457;23314748 93034 B3KUK6;B4DXZ9;B4DZ86;C4AM88;C9JW75;H7BZQ4;Q96M25 AA774429;AA974253;ABBA01018502;AC079148;AF352326;AF356185;AF417165;AJ295254;AK093234;AK093464;AK097422;AK097848;AK302084;AK302200;AK302795;AMYH01010144;BC026076;BC136387;BC141842;BC171761;CH471053;DB054653;HC007182;HC044805;NM_001002006;NM_001199086;NM_001199087;NM_001199088;NM_033253 AAI36388;AAI71761;AAK39108;AAK83285;AAL11910;AAX93260;BAC04103;BAC04174;BAG53468;BAG63471;BAG63561;BAG63998;CAC44363;CBH19396;CBH30732;EAX00852;EAX00853;EAX00854;NP_001002006;NP_001186015;NP_001186016;NP_001186017;NP_150278;Q96P26 Hs.744358 1683395 RH99272 AIRP;CN-IB;CN1B;MGC26640 OTTHUMP00000200494;OTTHUMP00000200495;OTTHUMP00000200496;OTTHUMP00000200497;OTTHUMP00000220360;autoimmune infertility-related protein;cytosolic 5'-nucleotidase 1B;cytosolic 5'-nucleotidase IB APPROVED protein-coding ENSG00000185013 17818 11405 610526 VALIDATED 1353894 NT5C 5', 3'-nucleotidase, cytosolic This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] 17 17 q25.1 70637918 70639472 - 73126320 73127890 - 1580863;6480464;6907045 2157703;10681516;15489334;15136231;14702039;12714505;12477932;12418222;12234672;10899995;3186746;2833155;18029348;17207965;20877624;21906983 30833 J3KRC4;J3KSF0;J3KSX6;J3KSY6;J3QQX8;Q8TCD5 ABBA01028816;AC022211;AF154829;AK000419;AMYH01008629;BC002516;BC008183;BC017454;BC022334;BC047763;BG034032;BK000192;BQ431723;BU627693;CH471099;NM_001252377;NM_014595;NR_045513 AAF36534;AAH08183;AAH17454;AAH22334;ADQ32487;BAA91151;DAA00070;EAW89241;EAW89242;EAW89243;NP_001239306;NP_055410;Q8TCD5 Hs.67201 2179775 RH15966 DNT;DNT1;P5N2;PN-I;PN-II;UMPH2;cdN;dNT-1 5' nucleotidase, deoxy (pyrimidine), cytosolic type C;5'(3')-deoxyribonucleotidase, cytosolic type;cytosolic 5',3'-pyrimidine nucleotidase;deoxy-5'-nucleotidase 1;uridine 5'-monophosphate phosphohydrolase 2;uridine 5-prime monophosphate hydrolase 2 APPROVED protein-coding ENSG00000125458 17144 11833 191720 REVIEWED 1602442 NT5C3B 5'-nucleotidase, cytosolic IIIB 17 17 17 q21.2 36632678 36643864 - 37234949 37246017 - 39981334 39992523 - 6480464 12477932;17207965;15146197;23223233;20706999 115024 C9IZA4;C9J758;E5RH64;E5RJR6;Q969T7 AA730137;ABBA01006449;ABBA01006450;AC091172;AC125257;AMYH01008387;AMYH01008388;BC013742;BC014132;BC016971;BC067788;BE296438;BF339623;BI914049;BI917511;BX365588;BX438861;BX460247;CB045324;CH471152;CN393115;DR159341;NM_052935;NR_033464;NR_033465;R61279 AAH13742;AAH14132;AAH16971;AAH67788;ADQ31613;EAW60771;EAW60772;EAW60773;NP_443167;Q969T7 Hs.237536 1710698;2144227 D17S1420E;SHGC-79629 MGC20781;MGC21375;NT5C3L 5'-nucleotidase, cytosolic III-like;7-methylguanosine phosphate-specific 5'-nucleotidase;OTTHUMP00000164752;OTTHUMP00000164753;OTTHUMP00000164754;OTTHUMP00000164755;OTTHUMP00000164756;OTTHUMP00000227604;cN-III-like protein;cytosolic 5'-nucleotidase 3B;cytosolic 5'-nucleotidase III-like protein APPROVED protein-coding ENSG00000141698 28300 14475 VALIDATED 1323774 NT5C3A 5'-nucleotidase, cytosolic IIIA This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012] 7 7 p14.3 33020267 33068934 - 33053725 33102409 - 1580863;6480464;6907045;7240710 9428647;10942414;12930399;11795870;8557639;18775979;18499901;17349762;16381901;15604219;15489336;15489334;15238149;12714505;12477932;12418222;11369620;11230166;11076863;11042152;8889549;7818506;16712791;20877624;16344560;19623099;21890473;21906983;23139015;21988832;23223233 51251 B9A035;C9K084;F8WDR0;Q9UC42 AA482595;AACC02000103;ABBA01056859;ABBA01056860;AC074338;AC083863;AF151067;AF312735;AK290118;AK314109;AL136716;AMYH01017164;AMYH01017165;AW339593;BC013292;BC015856;BC066914;BC071652;BF790086;CB127255;CB127877;CB137440;CH471073;CR533518;DA975244;DB243020;DB346026;N98231;NG_015800;NM_001002009;NM_001002010;NM_001166118;NM_016489 AAF36153;AAG33630;AAH13292;AAH15856;AAH66914;AAH71652;ABM83769;ABW03538;BAF82807;BAG36802;CAB66650;CAG38549;CAL38016;CAL38194;CAL38358;EAL24463;EAW94007;EAW94008;EAW94009;EAW94010;EAW94011;NP_001002009;NP_001002010;NP_001159590;NP_057573;Q9H0P0 Hs.487933 1645352;1679830;1812254;1823880;1869364;1869368;1869370;1869372;1869374;2109581;2116307;2157501;2171671;2184713;2198458 D7S746;ECD07134;ECD13033;GDB:1317406;NT5C3_9690;REN5352;REN5354;REN5355;REN5356;REN5357;RH16522;RH46946;RH65871;RH99188;stSG618293 MGC27337;MGC87109;MGC87828;NT5C3;P5'N-1;P5N-1;PN-I;POMP;PSN1;UMPH;UMPH1;cN-III;hUMP1;p36 5'-nucleotidase, cytosolic III;OTTHUMP00000202847;OTTHUMP00000202849;OTTHUMP00000202850;OTTHUMP00000202851;P5N-1;cytosolic 5'-nucleotidase 3;cytosolic 5'-nucleotidase 3A;cytosolic 5'-nucleotidase III;lupin;p36;pyrimidine 5'-nucleotidase 1;uridine 5' monophosphate hydrolase 1;uridine 5'-monophosphate hydrolase 1 APPROVED protein-coding ENSG00000122643 17820 05871 606224 REVIEWED 1322721 NT5C2 5'-nucleotidase, cytosolic II This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011] 10 10 q24.32 104837902 104943006 - 104847774 104953063 - 1580863;6480464;6907045 2848805;7999131;19428333;18775979;17405878;17350683;16189514;15923058;15489334;12477932;2839573;21396942;21572416;20542020;16385451;19060904;19430483;21045733;21378990;22863883;22071413;16344560;15840729;21139048;21890473;21906983;22688191;21909110;21909115;21926974;23377281;21963094;23223233;23377183;23894747;23453885 22978 A8K6K2;B7Z382;H0YHR8;P49902;Q5JUV3;Q5JUV4;Q5JUV6 ABBA01063117;ABBA01063118;ABBA01063119;ABBA01063120;ABBA01063121;AK127670;AK291667;AK295593;AK312517;AL139817;AL360001;AMYH01003022;AMYH01003023;BC001595;BU618027;BX648078;CH471066;D38524;DA879821;DB169780;NM_001134373;NM_012229 AAH01595;ABM83452;ABM86664;BAA07529;BAF84356;BAG54547;BAH12118;EAW49656;EAW49657;NP_001127845;NP_036361;P49902 Hs.97439 1677182;1678669;1680890;1688600;1699832;1748483;1758067;1782036;2172067;2180104;5015404;5015961;5016478;5020881;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:434012;L17705;L17709;RH103523;RH26787;RH77992;RH80760;RH92466;RH93558;SHGC-147263;SHGC-149908;SHGC-31548;WI-22164 GMP;NT5B;PNT5;cN-II 5'-nucleotidase (purine), cytosolic type B;IMP-specific 5'-NT;OTTHUMP00000020390;cytosolic 5'-nucleotidase II;cytosolic purine 5'-nucleotidase;purine 5' nucleotidase APPROVED protein-coding ENSG00000076685 8022 02686 600417 REVIEWED 1602220 NT5DC3 5'-nucleotidase domain containing 3 12 12 12 q22-q23.1 103830372 103899271 - 102690218 102759105 - 104166081 104234975 - 6480464 15827139;15547748;14702039;12477932;18839057;21878436;19322201 51559 H7C193;H7C3S8;Q86UY8 AB032773;AB032786;ABBA01053212;AC012555;AC025265;AK002128;AMYH01004708;BC052293;CH471054;NM_001031701 AAH52293;BAA92095;BAA93053;BAA93086;EAW97715;EAW97716;EAW97717;EAW97718;NP_001026871;Q86UY8 Hs.48428 1339239;1649530;1670240;1680415;1690260;1744009;1746303;1746411;1746451;1757503;1764753;1789094;2115617;2122617;5015961;5022322;5022578;5037552 A004F42;D11S2560;D12S1255;D12S1326;D12S78;D15S1477;D1S1423;D8S2279;G64553;G64554;G64598;G65716;GDB:384824;RH75122;RH93977;SHGC-144880;SHGC-148332;SHGC-53713 FLJ11266;GNN;TU12B1-TY;TU12B1TY 5'-nucleotidase domain-containing protein 3;GRP94-neighboring nucleotidase;OTTHUMP00000211311 protein-coding ENSG00000111696 30826 18241 611076 VALIDATED 7241990 NTAN1P1 N-terminal asparagine amidase pseudogene 1 100420389 ABBA01062965;AC091667;AMYH01003095;NG_025462 pseudo 45261 INFERRED 7241941 NTAN1P2 N-terminal asparagine amidase pseudogene 2 100420307 ABBA01037362;AC103817;AMYH01018859;NG_026048 pseudo 45262 INFERRED 7241989 NTAN1P3 N-terminal asparagine amidase pseudogene 3 100420356 ABBA01026565;AC078983;AMYH01004558;NG_024031 1782662 SHGC-149890 pseudo 45263 INFERRED 1603155 NT5DC4 5'-nucleotidase domain containing 4 2 2 2 q13 106864181 106871228 + 113181545 113216927 + 113478657 113485588 + 21145461;14702039;12477932 284958 Q86YG4 ABBA01074249;AC079922;AK092780;AMYH01010966;BC041437;XM_001716359;XM_001716541;XM_003960307 AAH41437;Q86YG4;XP_001716411;XP_001716593;XP_003960356 Hs.589714 1761605;1765467;1855831;2155916 D2S1820;D2S2625;SHGC-145599;SHGC-148954 5'-nucleotidase domain containing 4;OTTHUMP00000203658 protein-coding 27678 MODEL 1313107 NT5DC1 5'-nucleotidase domain containing 1 While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010] 6 6 6 q22.1 117165022 117309890 + 116528692 116673546 + 116421999 116566853 + 6480464 18978678;15498874;15489334;14702039;14574404;12477932;12107410;19913121;20628086;22939629;21139048;21890473;21906983;23455636;23000965;23064961;22736055 221294 B3KR35;H0Y6C1;H0YDA5;Q5QPD0;Q5TFE4;Q9H2R1 ABBA01026047;AF245044;AK090918;AK290408;AK308337;AL050331;AL121945;AL121963;AMYH01016616;AMYH01016617;AY203935;BC015138;BC056664;BC063504;BC108699;BC136832;BC136841;BG428640;BM153683;BM808222;CA390074;CH471051;NG_021351;NM_152729 AAG44481;AAI08700;AAI36833;AAI36842;AAP34458;BAF83097;BAG52247;EAW48236;EAW48237;EAW48238;EAW48239;NP_689942;Q5TFE4 Hs.520341 1644253;1654274;1654276;1662185;1674748;1716955;1716961;1743933;1743935;1743937;1775251;1791754;1794718;1795588;2147639;2186234;5123416;7185137 A005N02;COL10A1__1174;G20343;GDB:376245;GDB:376260;GDB:376368;PMC123659P1;PMC351321P2;RH121857;RH121861;RH12857;RH46866;RH65475;SHGC-35770;STS-H71515;STS-X60382;WI-11201 C6orf200;LP2642;MGC131837;MGC24302;NT5C2L1 5'-nucleotidase domain-containing protein 1;5'-nucleotidase, cytosolic II-like 1 protein;OTTHUMP00000017054 APPROVED protein-coding ENSG00000178425 21556 14845 REVIEWED 1345269 NTF6A neurotrophin 6 alpha (pseudogene) 19 19 19 q13.3 46395769 46396913 - 54220373 54221518 - 49528482 49529379 - 727527 1313578 1496419 4910 ABBA01032950;AC008687;AMYH01009908;M86529;NG_029362 NTF5P;NTF6;PSI-NT4 neurotrophin 6, alpha pseudogene pseudo 8025 INFERRED 1347769 NTF6B neurotrophin 6 beta (pseudogene) 19 19 19 q13.3 46408770 46409959 - 54233373 54234562 - 49541491 49542395 - 1496419 4911 ABBA01032948;AC008687;AMYH01009908;NG_029363;S41540 AAB22780 neurotrophin 6, beta pseudogene pseudo 8026 INFERRED 734028 NT5E 5'-nucleotidase, ecto (CD73) The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 6 6 q14-q21 86216528 86262215 + 86159302 86205509 + 1581647;1580863;1300048;5134348;5134343;5134344;6480464;6484113;6907045;7240710 15699053;21337375;19723569;16274951 22454080;19536092;2848759;3036115;2129526;18029348;19008478;18924612;18787389;18636315;18566412;18062933;17911479;17671792;17487388;17065075;16735966;16718268;16709165;16344560;16303743;14578500;12892649;12774669;12477932;12170585;12030367;12000134;11163406;11149913;11067892;11046060;11004484;10898423;10570953;10470109;9651114;9553767;9361795;9238677;9169488;9113412;9015312;8781432;8566797;8000038;22939629;2173922;2137649;819433;19956800;20392501;20874842;20628624;21288095;21057730;21346249;22833450;20977463;20476579;21677139;21638125;21732280;21092450;21998208;22184407;21906983;21933152;22287455;21886157;22553809;23288168;23142347;23192044;23508889;22936677;23094051;23584256;22040959;23122642 4907 H0Y3X5;H0Y7R7;P21589;Q6NZX3;Q96B60 ABBA01040476;AF069067;AK075008;AK075083;AK314661;AL135903;AL589666;AMYH01016480;AY351432;BC015940;BC065937;BQ019358;CH471051;CQ782997;DA574510;DQ186653;NG_028214;NM_001204813;NM_002526;U21730;X55740 AAA96950;AAC98672;AAH15940;AAH65937;AAQ21035;ABA39834;BAG37219;BAG52050;BAG52063;CAA39271;CAF86213;EAW48634;EAW48635;EAW48636;NP_001191742;NP_002517;P21589 Hs.153952 1659793;1683469;1706416;1786164;1855012;2137789;2149327 D6S1847;RH46710;RH99003;SHGC-80786;SHGC-81763;STS-X55740;WI-20546 CD73;E5NT;NT;NT5;NTE;eN;eNT 5 nucleotidase;5' nucleotidase (CD73);5'-NT;5'-nucleotidase;OTTHUMP00000016808;Purine 5-Prime-Nucleotidase;ecto-5'-nucleotidase APPROVED protein-coding ENSG00000135318 8021 00552 129190;211800 REVIEWED 1350644 NTF6G neurotrophin 6 gamma (pseudogene) 19 19 19 q13.3 46399879 46400850 + 54224484 54225455 + 49532948 49533842 + 1496419 4912 ABBA01032949;AC008687;AMYH01009908;NG_029364;S41541 AAB22781 neurotrophin 6, gamma pseudogene pseudo 8027 INFERRED 1601740 NT5DC2 5'-nucleotidase domain containing 2 3 3 3 p21.1 52537844 52548598 - 52533443 52557496 - 52558385 52569093 - 6480464 21145461;16344560;15489334;14702039;12477932;9110174;8889548;8619474;20811636;21903422;21139048;21890473;21926972 64943 C9J036;C9JTZ6;E9PAL9;F8WEY1;H7C4G8;H7C519;Q9H857 ABBA01024505;ABBA01024506;AC112215;AF131781;AK022504;AK023995;AK092469;AMYH01013185;AMYH01013186;AW510639;BC014550;BC047747;BM982658;CH471055;DA013090;DB265466;DR003312;NM_001134231;NM_022908 AAD20044;AAH14550;BAB14064;BAB14763;EAW65236;EAW65237;NP_001127703;NP_075059;Q9H857 Hs.84753 1681642;2115434 RH93758;SHGC-76998 FLJ12442 5'-nucleotidase domain-containing protein 2;OTTHUMP00000213160;OTTHUMP00000213195;OTTHUMP00000213220;OTTHUMP00000213343;OTTHUMP00000225828 protein-coding ENSG00000168268 25717 07770 VALIDATED 6481112 NTM-IT NTM intronic transcript (non-protein coding) q25 100874281 AA435898;AP004248;NR_046820 NTM-IT3 APPROVED miscrna 41437 VALIDATED 6481111 NTM-IT1 NTM intronic transcript 1 (non-protein coding) 100874279 AP003025;AP003039 miscrna 41435 6481110 NTM-IT2 NTM intronic transcript 2 (non-protein coding) 100874280 AP000844 miscrna 41436 1320058 NT5M 5',3'-nucleotidase, mitochondrial This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 18146276 18190449 + 17147405 17191702 + 17206680 17250977 + 1580863;6480464;6907045 10899995;16004879;15489334;12477932;12352955;12124385;20877624 56953 J3QLR5;J3QRN4;K7EPW8;Q9NPB1 ABBA01009760;ABBA01009761;ABBA01009762;ABBA01009763;ABBA01009764;AC006071;AF210652;AJ277557;AL526346;AMYH01008157;BC035838;CH471196;DQ323995;NM_020201 AAF87076;AAH35838;ABC88597;CAB99251;EAW55710;NP_064586;Q9NPB1 Hs.513977 1664317;1736644;2109583 D17S1483E;NT5M__6079;WI-11472 dNT-2;dNT2;mdN 5' nucleotidase, mitochondrial;5'(3')-deoxyribonucleotidase, mitochondrial;5(3)-deoxyribonucleotidase;OTTHUMP00000065515;deoxy-5'-nucleotidase 2;mitochondrial 5' nucleotidase APPROVED protein-coding ENSG00000205309 15769 12009 605292 REVIEWED 735501 NTN1 netrin 1 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008] 17 17 p13-p12 8865584 9088042 + 8924859 9147317 + 1580863;6480464 10996153;19349462;19211441;19122655;18922894;18796601;18692059;18653556;18469807;18439993;18400890;18353983;18253061;16203981;16181408;16158190;15811950;15574733;15573119;15491747;15343335;14602071;12810718;12636918;11356879;11048721;9950216;8978605;8861902;21193949;10102268;18455953;19196994;19822088;19826074;19940358;20007677;20029409;20075388;20080097;20036673;20620466;9858595;12149262;20736409;20609112;20305387;22871610;21303223;21789787;20434207;21980448;22588384;21740336;22231519;21733374;22252496;22332546;22863734;21505994;23195957;23319801;23526078;22685302;22779713;22889408 9423 H7BZF4;O95631 ABBA01054936;ABBA01054937;ABBA01054938;ABBA01054939;ABBA01054940;ABBA01054941;AC005695;AC090610;AMYH01008095;AMYH01008096;BC092429;CH471108;GU727649;NM_004822;U75586 AAD09221;ADU87650;EAW90032;NP_004813;O95631 Hs.660885 1342096;1676788;1679415;1716691;1768599;2139587;2171073 D17S952;D17S973;G17991;L18181;RH121604;RH93073;SHGC-2263 NTN1L OTTHUMP00000160751;epididymis tissue protein Li 131P;netrin 1, mouse, homolog of;netrin-1 APPROVED protein-coding ENSG00000065320 8029 03368 601614 REVIEWED 732796 NTN3 netrin 3 16 16 16 p13.3 2735875 2738521 + 2461501 2464147 + 2521500 2524146 + 1580863;6480464 9143507;12471613;10634642;10477713;10366627;9887257;8828041;15923648;21980448 4917 O00634 ABBA01030254;ABBA01030255;AC106820;AMYH01007058;CH471112;CS572995;NG_028170;NM_006181;U86758;U86759 AAC51246;AAC51247;CAN86491;EAW85504;NP_006172;O00634 Hs.158336 NTN2L Netrin-2, chicken, homolog of, like;OTTHUMP00000159091;netrin-2-like protein;netrin-3 protein-coding ENSG00000162068 8030 03827 602349 VALIDATED 1350127 NTAN1 N-terminal asparagine amidase The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 16 16 16 p13.11 16188840 16208298 + 15039215 15057334 - 15131710 15149936 - 1580863;6480464 18496130;15489334;14702039;12477932;20189936;21375249;22286219;22359512;19786961;22504420 123803 H3BMX8;H3BNJ5;H3BPN7;H3BR97;H3BU50;Q7Z4Z0;Q96AB6 ABBA01012610;ABBA01012611;AC138932;AC139256;AF092440;AK092915;AMYH01007182;BC017336;BF939373;CH471301;DC383993;HY036316;NM_001270766;NM_001270767;NM_173474 AAH17336;AAP97215;ADQ31702;EAW54749;NP_001257695;NP_001257696;NP_775745;Q96AB6 Hs.592045 1646631;1646633;1715075;1725045;1768912;2165560;2176789;5014023;5022578;5037552;5126187 A001Y19;D13S1553;D1S1423;D8S2279;G19780;RH119489;RH120087;RH16169;RH71423;SHGC-60684;SHGC-61155 DKFZp666E058;PNAA;PNAD N-terminal asparagine amidohydrolase;OTTHUMP00000160286;PNAA;PNAD;protein N-terminal Asn amidase;protein N-terminal asparagine amidohydrolase;protein NH2-terminal asparagine amidohydrolase;protein NH2-terminal asparagine deamidase;protein NTN-amidase APPROVED protein-coding ENSG00000157045 29909 17649 REVIEWED 732368 NTF3 neurotrophin 3 The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008] 12 12 p13 5411541 5474726 + 5541280 5604465 + 631710;1358755;1358754;1580863;4891068;4891112;4891123;4891120;4891110;5144061;6480464;6907045 1889806;11580868;9502217;17497413;16022868;11737043;15843147;16315781;21059230 2236018;19369542;19086053;18596692;18438945;18438927;18428117;18313696;18305571;18203754;18179783;18069415;17698064;17234344;17112518;16786155;16441896;15770067;15589528;15544837;15489334;15365216;15146197;12900521;12710933;12598727;12477932;12397373;12107412;11920853;11877300;9756741;9488719;8925252;8841198;8819011;8621424;7991545;7733919;7703225;7514502;2365067;2344409;2025430;1889807;1542658;17207965;20060128;20576502;19357934;19453261;19598235;20160348;20219210;20360537;20379614;9973222;21261755;21085492;21392742;19680743;20597688;21698095;21996274;22158057;1645620;22036954;21720807;22459634;21787840;23426664;23185507;23522042;22192858;23075484;23149719;22454143;15474906;17192954;18336001 4908 P20783 ABBA01017624;AC007848;AC137627;AK293895;AMYH01004199;AW190653;BC069773;BC107075;BU939830;CD672441;CH471116;CN267386;CR541906;HD113715;M37763;M61180;NM_001102654;NM_002527;X53655 AAA59953;AAA63231;AAH69773;AAI07076;ADQ32931;BAH11621;CAA37703;CAG46704;CBW46116;EAW88824;EAW88825;NP_001096124;NP_002518;P20783 Hs.99171 1337549;1693910;1742789;1742907;1755695;1758969;1766497;1788948;1853149;2167251;5491900;5493029;7185504 D12S99;G19257;G42645;GDB:210011;GDB:214846;Ntf3;RH48860;SHGC-142535;SHGC-149817;SHGC-943;UniSTS:225313;UniSTS:483844 HDNF;MGC129711;NGF-2;NGF2;NT3 NT-3;OTTHUMP00000239132;OTTHUMP00000239133;nerve growth factor 2;neurotrophic factor;neurotrophin-3 APPROVED protein-coding ENSG00000185652 8023 01219 162660 REVIEWED 733149 NTF4 neurotrophin 4 This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008] 19 19 q13.3 54256209 54260047 - 49564397 49567124 - 737722;1580863;4891068;6480464;6907045;7240710 10869436;17497413 1496419;19086053;19081579;18980528;18305571;18203754;18179783;16648236;16648150;16316409;15987945;15489334;12900521;12477932;12397373;11855816;11738045;10631974;10490030;10388563;9519408;8873083;8241191;8061955;7703225;7541633;1742028;1313578;15258592;11263982;21350004;20175187;20806036;10479455;10681461;10908605;19598235;19765683;20215012;20219210;20463313;925010;9973328;20447632;21330466;22036954;22192858;22815630 4909 AAB20549;E7EP46;M0QZQ0;M0R0X2;P34130 ABBA01032946;AC008687;AK297906;AMYH01009908;BC012421;BT019368;BT019369;CH471177;CR541900;M86528;NG_016289;NM_006179 AAA60154;AAB20549;AAH12421;AAV38175;AAV38176;ABM82234;ABM85418;BAG60225;CAG46698;EAW52441;EAW52442;EAW52443;NP_006170;P34130 Hs.266902;Hs.743915 1688837;1770848;2158247 D19S1129;RH46960;RH80807 GLC10;GLC1O;NT-4;NT-4/5;NT-5;NT4;NT5;NTF5 NT-4;NT-5;neurotrophic factor 4;neurotrophic factor 5;neurotrophin 5;neurotrophin 5 (neurotrophin 4/5);neurotrophin-4;neurotrophin-5;neutrophic factor 4 APPROVED protein-coding ENSG00000225950 8024 01220 162662;613100 REVIEWED 1319554 NTHL1 nth endonuclease III-like 1 (E. coli) The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008] 16 16 p13.3 2029817 2037868 - 2089816 2097867 - 1580863;6480464;6907045 18515411;18307537;17923696;17353931;17150535;16446124;16111924;15616553;15533839;15489334;14734554;14522981;12519758;12477932;12167705;12144783;12140329;11328882;9927729;9743625;9705289;9045706;8611553;10882850;15358233;9831664;10583946;11937636;8990169;12531031;19414504;15260972;20843780;20834067;20226869;20522537;20877624;21048031;20574454;22939629;21139048;21906983;22465744 4913 E5KTI5;H3BPD5;H3BRL9;H3BUV2;P78549 AB001575;AB014460;ABBA01030279;ABBA01030280;AC005600;AC093513;AF498098;AMYH01007047;BC000391;BC003014;CH471112;HQ206266;HQ206267;HQ206268;HQ206269;HQ206270;HQ206271;HQ206272;HQ206273;HQ206274;HQ206275;HQ206276;HQ206277;HQ206278;HQ206279;HQ206280;HQ206281;HQ206282;HQ206283;HQ206284;HQ206285;HQ206286;HQ206287;HQ206288;HQ206289;HQ206290;HQ206291;HQ206292;HQ206293;HQ206294;HQ206295;HQ206296;HQ206297;HQ206298;HQ206299;HQ206300;HQ206301;HQ206302;HQ206303;HQ206304;HQ206305;NG_008412;NM_002528;U79718;U81285;Y09687 AAB41534;AAC34209;AAC51136;AAH00391;AAH03014;AAM11786;ADP92214;ADP92215;ADP92216;ADP92217;ADP92218;ADP92219;ADP92220;ADP92221;ADP92222;ADP92223;ADP92224;ADP92225;ADP92226;ADP92227;ADP92228;ADP92229;ADP92230;ADP92231;ADP92232;ADP92233;ADP92234;ADP92235;ADP92236;ADP92237;ADP92238;ADP92239;ADP92240;ADP92241;ADP92242;ADP92243;ADP92244;ADP92245;ADP92246;ADP92247;ADP92248;ADP92249;ADP92250;ADP92251;ADP92252;ADP92253;BAA19413;BAA32695;CAA70865;EAW85562;NP_002519;P78549 Hs.66196 1788058;1789871;1789873;1789875;1789877;1789879;1850475 G67256;RH71264;csnpnthl1-pcr1-1;csnpnthl1-pcr2-1;csnpnthl1-pcr3-1;csnpnthl1-pcr5-1;csnpnthl1-pcr6-1 NTH1;OCTS3 OTTHUMP00000158939;endonuclease III-like protein 1 APPROVED protein-coding ENSG00000065057 8028 04039 602656 REVIEWED 1603310 NTM neurotrimin This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 11 11 11 q25 128409354 129378081 + 130745581 131711926 + 131240371 132206716 + 6480464 7891157;15489334;15379248;15340161;12975309;12819783;12477932;12107410;8889548;20889312;22661486;20379614;17207965;21036197;21182207;19913121;20628086;23548203;17500595;21832049;21982860;23144326;23247143;23251661;23054244 50863 B7Z1I4;B7Z1Z5;C9J0V2;C9JK95;F8VTR5;H7BZ62;Q9P121 AA854425;ABBA01023051;ABBA01023052;ABBA01023053;AF126426;AI360870;AI573168;AK293448;AK293487;AK294137;AK315964;AMYH01004132;AMYH01004133;AMYH01004134;AMYH01004135;AMYH01004136;AMYH01004137;AMYH01004138;AMYH01004139;AP000844;AP002355;AP003025;AP003039;AP003166;AP004248;AP004372;AP004722;AP005155;AY358331;BC050716;BE222817;BE263639;BE504685;BF064266;BI913885;BM548429;BM726313;CA392146;CH471065;CS287743;EF043567;NM_001048209;NM_001144058;NM_001144059;NM_016522 AAF37591;AAH50716;AAQ88697;ABK34282;ADQ33119;BAH11509;BAH11520;BAH11681;BAH14335;CAK18708;EAW67800;EAW67801;EAW67802;NP_001041674;NP_001137530;NP_001137531;NP_057606;Q9P121 Hs.504352 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HNT;IGLON2;MGC60329;NTRI IgLON family member 2;OTTHUMP00000069165;OTTHUMP00000069166;OTTHUMP00000196338;OTTHUMP00000196339;neurotrimin APPROVED protein-coding ENSG00000182667 17941 06398 607938 REVIEWED 1606977 NTN5 netrin 5 19 19 19 q13.33 46029521 46042362 - 53856476 53868076 - 49164664 49176264 - 6480464 12477932;21926972 126147 M0QXZ9;Q8WTR8 ABBA01032974;ABBA01032975;ABBA01032976;AC008888;AMYH01009907;BC018654;BC018697;BC021210;BC033207;CH471177;NM_145807 AAH18654;AAH18697;AAH21210;AAH33207;EAW52386;EAW52387;EAW52388;NP_665806;Q8WTR8 Hs.326217 5022576 D1S1361 netrin-1-like protein;netrin-5 protein-coding ENSG00000142233 25208 14031 PROVISIONAL 1606300 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010] 9 9 9 q34.11 103039246 103048694 + 131428256 131437700 + 132388435 132397879 + 6480464 15231747;15489334;15164053;12477932;10931946;20481588;20098747;20668449;21832049;22939629;18029348;21987572;21139048;21890473;21906983;22769851 28989 Q9BV86 ABBA01043939;AF110776;AI802417;AK290957;AK292332;AK298840;AK307056;AK313829;AL590369;AMYH01021762;BC001396;BC033234;BF316784;CH471090;NM_014064 AAF14859;AAH01396;AAH33234;BAF83646;BAF85021;BAG60968;EAW87893;EAW87894;EAW87895;NP_054783;Q9BV86 Hs.744027 1689053;1852246 RH93952;SGC32655 AD-003;C9orf32;HOMT1A;METTL11A;NRMT;NTM1A N-terminal RCC1 methyltransferase;N-terminal Xaa-Pro-Lys N-methyltransferase 1;OTTHUMP00000022337;OTTHUMP00000022338;OTTHUMP00000022339;OTTHUMP00000022340;X-Pro-Lys N-terminal protein methyltransferase 1A;alpha N-terminal protein methyltransferase 1A;methyltransferase like 11A;methyltransferase-like protein 11A APPROVED protein-coding 23373 10628 613560 VALIDATED 1348678 NTN4 netrin 4 NTN4 belongs to a family of proteins related to laminins (see LAMA1, MIM 150320) Koch et al. (2000) [PubMed 11038171].[supplied by OMIM, Mar 2008] 12 12 12 q22 95723494 95856412 - 94575714 94708667 - 96051583 96184536 - 6480464 19094984;18719102;17545519;15519678;15489334;14702039;12477932;11038171;16189514;22496621;21406174;20407033;17174565;19859801;20029409;21799154;20730893;22705235 59277 F8W0I7;Q9P133 ABBA01053323;ABBA01053324;ABBA01053325;ABBA01053326;ABBA01053327;ABBA01053328;AC008128;AC090001;AF119916;AF278532;AF297711;AK024691;AK026833;AK226070;AK290591;AK315796;AL137540;AL833767;AMYH01004674;AMYH01004675;AY330211;BC013591;BC136798;BC136799;BI549738;CH471054;NM_021229 AAF69670;AAG30822;AAG53651;AAH13591;AAI36799;AAI36800;AAP92113;BAB14964;BAF83280;BAG38140;CAB70800;CAH56243;EAW97544;EAW97545;NP_067052;Q9HB63 Hs.201034 1700238;2219206;5024165 NTN4__6080;RH103736;RH77787 FLJ23180;PRO3091 OTTHUMP00000243442;OTTHUMP00000243443;OTTHUMP00000243444;OTTHUMP00000243445;beta-netrin;hepar-derived netrin-like protein;netrin-4 APPROVED protein-coding ENSG00000074527 13658 10121 610401 VALIDATED 1316073 NTNG2 netrin G2 9 9 9 q34 105579329 105660166 + 134031955 134108040 + 135037334 135118220 + 1580863;6480464 18204098;17507910;16189514;15705354;15489334;12975309;12477932;12168954;11804778;11347906;9110174;8619474;20382146;20029409;22957104;22041449 84628 A6NMX7;O95898;Q5JUJ3;Q96CW9 AB058760;ABBA01032491;ABBA01032492;ABBA01032493;ABBA01032494;AF131842;AL159997;AL353631;AMYH01021785;AMYH01021786;AY358165;BC013770;CH471090;NM_032536 AAD20057;AAH13770;AAQ88532;BAB47486;EAW87994;EAW87995;EAW87996;NP_115925;Q96CW9 Hs.163642 1334728;1338143;1740533;1786972;1846926;1846928;7185505 A005L09;D12S341;D9S125;D9S179;G20303;SHGC-145642 KIAA0625;KIAA1857;LHLL9381;Lmnt2;MGC21884;NTNG1;bA479K20.1 OTTHUMP00000022430;OTTHUMP00000022431;bA479K20.1 (novel protein);laminet 2;laminet-2;netrin G1;netrin-G2 protein-coding ENSG00000196358 14288 17650 VALIDATED 1350531 NTNG1 netrin G1 Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon guidance cues during vertebrate nervous system development (Nakashiba et al., 2000 [PubMed 10964959]).[supplied by OMIM, Mar 2008] 1 1 p13.3 107484268 107825998 + 107682629 108024475 + 6480464 14595443;19240061;18628988;18384956;18234954;17903671;17507910;16710414;16502428;15901489;15870826;15705354;15508520;15494819;15489334;15340161;12975309;12477932;10964959;10231032;19913121;20628086;20029409;20379614;21079607;17207965;22227940 22854 A6NK56;B4DKF0;F5GYT0;F8WEB5;Q5IEC3;Q5IEC6;Q5IEC8;Q9Y2I2 AB023193;ABBA01028428;ABBA01028429;ABBA01028430;AC114491;AK296533;AK297659;AL513187;AL590427;AMYH01000883;AY358365;AY764260;AY764261;AY764262;AY764263;AY764264;AY764265;AY764266;AY764267;AY781194;BC030220;BX538348;CH471156;CS572991;NM_001113226;NM_001113228;NM_014917 AAH30220;AAQ88731;AAW47407;AAW47408;AAW47409;AAW47410;AAW47411;AAW47412;AAW47413;AAW47414;AAW47415;ACE86788;ACE87474;ADQ31744;BAA76820;BAG59162;BAG60025;CAD98143;CAN86489;EAW51249;EAW51250;NP_001106697;NP_001106699;NP_055732;Q9Y2I2 Hs.732535 1654214;1674962;1687794;1692080;1754543;2121725;2136907;2163215;2219208 AL033680;HSC15A052;NTNG1__6081;RH68911;RH92811;SHGC-132826;SHGC-52775;SHGC-75244;SHGC-75249 KIAA0976;Lmnt1 OTTHUMP00000012634;OTTHUMP00000012704;OTTHUMP00000012705;OTTHUMP00000012706;OTTHUMP00000012707;OTTHUMP00000012708;OTTHUMP00000012709;YLSR571;axon guidance molecule;laminet 1;laminet-1;netrin G1f;netrin-G1 APPROVED protein-coding ENSG00000162631 23319 16389 608818 VALIDATED 6769052 NTRK3-AS1 NTRK3 antisense RNA 1 15 q25.3 88795961 88814297 + 14702039 283738 ABBA01052994;ABBA01052995;AC009711;AK097486;AMYH01006903;AMYH01006904;AMYH01006905;AMYH01006906;NR_038229 Hs.578429 1697280;1794378 PMC311040P8;RH102137 APPROVED miscrna ENSG00000260305 27532 VALIDATED 1314483 NTSR1 neurotensin receptor 1 (high affinity) Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008] 20 20 q13 60810634 60864568 + 61340189 61394123 + 1580863;1358670;6480464 11032391 22416137;8381365;9763490;19156213;19086053;18809332;18624930;18541341;17289170;17018595;16299383;16087676;15764810;14962098;14699144;12360476;12150975;11906607;11780052;11559354;11279203;10930533;10690540;10514511;10390649;8995438;8719037;8075503;23109725;21725197;19864207;19874574;19968961;20018219;20048080;20398908;20424473;20468064;16754659;20959865;18577758;21272935;20810387;21394204;21364741;21906983;22551944;21748756 4923 P30989 ABBA01021368;ABBA01021369;AL035669;AL357033;AMYH01012059;AY429106;BC040711;CH471077;CS174241;NM_002531;X70070 AAI52810;AAR07901;CAA49675;CAJ34549;EAW75345;NP_002522;P30989 Hs.590869 1682011;1686290;5117276 GDB:455350;RH70884;RH75982 NTR NT-R-1;NTR1;NTRH;OTTHUMP00000031500;high-affinity levocabastine-insensitive neurotensin receptor;neurotensin receptor type 1 APPROVED protein-coding ENSG00000101188 8039 01218 162651 REVIEWED 1604264 NTPCR nucleoside-triphosphatase, cancer-related 1 1 1 q42.2 206356751 206384600 + 231152993 231180842 + 233086370 233114219 + 6480464;6907045 17291528;15489334;21145461;12477932;17643375;19519914;21139048;21890473;22505724 84284 Q5TDE9;Q5TDF0;Q9BSD7 ABBA01033072;ABBA01033073;AF416713;AK311229;AK316591;AL122003;AMYH01001828;BC005102;CH471098;NM_032324 AAH05102;AAL16807;BAG38178;EAW69976;EAW69977;EAW69978;EAW69979;EAW69980;NP_115700;Q9BSD7 Hs.642715 1711048;2141600;2169327;2174014 RH46238;SHGC-64307;SHGC-76553;SHGC-86151 C1orf57;FLJ11383;HCR-NTPase;MGC13186;RP4-659I19.2;RP4-678E16.2 NTPase;OTTHUMP00000035941;OTTHUMP00000035942;cancer-related nucleoside-triphosphatase;human cancer-related NTPase;nucleoside triphosphate phosphohydrolase;nucleoside-triphosphatase C1orf57 APPROVED protein-coding 28204 17486 PROVISIONAL 734274 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008] 1 1 q21-q22 155052166 155118266 + 156785542 156851642 + 1580863;5144144;5144120;5508228;5508229;5508379;5684544;5684769;5684352;5684546;6480464;5684771;5684379;5684405;5684531;5684768;5144116;5684340;5684532;5684543;5684767;5684534;5684530;5684772;5684770;4891110;5684542;5684545;5684766;5684358;5684777;5684337;2308892;5508695;6907045;7240710 21136036;17667845;18780967;16704535;12469361;19250380;18322713;20351485;8943115;17223862;18817846;18097183;21397006;20200421;18647313;21719352;21385399;19651702;20647579;21317683;21429417;16708804;18077166;16315781;20638179;8433391;20934630;19633950;15589512;22044876;18585435;20943663 10748052;14691455;14642435;12536040;12477932;12446789;12406349;12237455;12210794;12208732;12150951;12102460;11859925;11850535;11733534;11705863;11668614;11466412;11310631;11251075;11244088;11159935;11150334;11147812;11071380;10982191;10861667;18319596;18305571;18270328;18221326;18203754;18072090;18005706;17971243;17850422;17673289;17671718;17635673;17619016;17617666;17531524;17447019;17196528;17143529;16996570;16935282;16919030;16862449;16860569;16786155;16710414;16701206;16586073;16546643;16483615;16373086;16275928;16181609;16138253;16091303;15961390;15950763;15870692;15753086;15637590;15523689;15489334;15488758;15362372;15273715;15167895;15159601;15024033;14988025;14985763;9290260;19167335;8957089;11520933;16805430;16939974;7806500;9182757;10629055;16284401;11157096;19453261;19330021;19177265;19169037;19120874;19115484;19086053;18727839;18719857;18678285;18427551;18419753;21728718;22539856;22343487;10567924;10490030;10443680;10391209;10388563;10330344;10329710;10233776;10103137;10092678;10090906;9927421;9867838;9856458;9507002;9341772;9282923;9099755;8889548;8696348;8524391;8384556;8325889;8226808;8155326;7823156;7657647;7601468;7565764;7541035;7510697;7509449;2966065;2927393;2869410;1850821;10708759;1849459;1715690;1706478;1695324;1656363;1532241;1463607;18457658;18174161;12471037;8183561;8621424;10679771;11729324;8577769;8943228;8610109;7542991;22561027;21137076;21139137;21295543;21419569;21154590;20542022;20600627;21123453;20680486;19883730;19913121;20628086;20209132;20977883;20663926;10712923;10747026;12006576;15513915;19386345;19399531;19417027;19435634;19564412;19598235;19635108;19730683;19734938;19749791;19758420;19816090;19945432;19957796;20003389;20186105;20219210;20424473;9069267;20301726;21184737;21236475;21570973;21150695;22992069;22653642;22902478;20854189;22623531;21332718;21849536;23266087;22932111;21645891;21503896;22272270;11738045;16246731;19953087;22128158;21990266;21321391;16113645;22138126;17267689;17548467;20301434;22410777;23471969;22454143;22939624;22782892 4914 E9PQG0;J3KP20;Q7Z5C3 AB019488;ABBA01016642;ABBA01016643;AK126428;AK290759;AK312704;AL158169;AMYH01001441;AY321513;BC062580;BC136554;BC144239;BM685020;CH471121;CR936794;M23102;NG_007493;NM_001007792;NM_001012331;NM_002529;Y09028;Y09029;Y09030;Y09031;Y09032;Y09033;Y09034;Y09035;Y09036 AAA36770;AAH62580;AAI36555;AAI44240;AAP88292;BAA34355;BAF83448;BAG35582;EAW52900;EAW52901;EAW52902;NP_001007793;NP_001012331;NP_002520;P04629 Hs.406293 1342035;1679097;1745091;1794964;7185705 D1S506;GDB:593920;PMC86471P1;RH70890 DKFZp781I14186;MTC;TRK;TRK1;TRKA;Trk-A;p140-TrkA OTTHUMP00000038736;OTTHUMP00000234666;OTTHUMP00000234667;OTTHUMP00000234668;OTTHUMP00000234669;Oncogene TRK;TRK1-transforming tyrosine kinase protein;gp140trk;high affinity nerve growth factor receptor;trk precursor;tropomyosin-related kinase A;tyrosine kinase receptor A 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000198400 8031 01869 155240;191315;256800 REVIEWED 1354062 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 15 15 q25 86220992 86600665 - 88419988 88799962 - 1580863;2325656;2325654;2308892;2325663;2325660;6480464;6907045 16941478;9541170;18585435;10209957;11295066 7806211;19453261;19370765;19351817;19344762;19187638;19179422;19156760;19086053;19040714;19011601;18713973;18639687;18616610;18428117;18367154;18347002;18336001;18319596;18293376;18203754;18179783;18068631;17971243;16862449;16826429;16786155;16648236;16647839;16537434;15932601;15312164;15247919;15198123;15167895;15167446;14668342;12927579;12477932;12471037;12450792;12399943;12237455;12210087;12034707;11877382;11205744;11157096;10764727;10027399;9927421;9856458;21728718;16344560;8889548;9778053;9462753;9648868;9488719;9197281;9195161;9110174;8895847;8619474;8344249;7828539;7823156;7657612;1653651;1326636;10092678;8621424;12006576;15513915;19417027;19598235;19893451;20160348;20219210;20379614;9973222;19556619;21139137;21295543;21070662;20554328;20802235;21392742;21401966;19680743;21617231;21552290;21832049;21788388;22265740;23416450;22343487;22388998;23332094;21988832;22939624;23341610;23453885;20078941 4916 B7Z7U4;E9PG56;H0YM90;H0YND1;Q16288;Q96CY4;R4GMR8;R4GN40;R4GNH5 ABBA01052993;ABBA01052994;AC009711;AC011966;AC021677;AF052184;AF058389;AF058390;AF125808;AI613045;AJ224521;AK297160;AK302504;AK309695;AK313646;AL134171;AMYH01006902;AMYH01006903;AMYH01006904;AMYH01006905;AY065844;BC013693;BC128249;BG741347;BI962878;BM675026;BM887782;BQ893817;BT007291;CB053605;CH471101;CK903553;DA789502;NG_029619;NM_001007156;NM_001012338;NM_001243101;NM_002530;S76475;S76476;U05012 AAA75374;AAB33111;AAB33112;AAC97478;AAC97479;AAF19762;AAH13693;AAL40893;AAP35955;BAH12511;BAH13730;CAA12029;EAX01989;EAX01990;EAX01991;EAX01992;EAX01993;NP_001007157;NP_001012338;NP_001230030;NP_002521;Q16288 Hs.410969;Hs.706364 1644357;1671802;1672426;1697280;1715985;1718059;1724759;1725375;1729695;1730727;1731321;1750361;1753947;1757301;1783240;1783276;1790209;1794356;1794364;1794366;1794374;1794378;1854475;2167031;2175395 BE106688;D15S1230;D15S171;D15S550;D15S930;D15S99;D18S99;PMC311040P17;PMC311040P20;PMC311040P21;PMC311040P6;PMC311040P8;RH102137;RH119005;RH122586;RH122647;RH122735;RH78103;SGC30075;SHGC-112537;SHGC-144703;SHGC-154732;SHGC-156073;SHGC-30089;SHGC-89268 TRKC;gp145(trkC) ETS related protein-neurotrophic receptor tyrosine kinase fusion protein;ETV6-NTRK3 fusion;GP145-TrkC;NT-3 growth factor receptor;OTTHUMP00000192915;OTTHUMP00000240515;neurotrophin 3 receptor;neurotrophin 3 receptor truncated isoform;trk-C;trkC tyrosine kinase;tyrosine kinase receptor C APPROVED protein-coding ENSG00000140538 8033 01870 191316 REVIEWED 731305 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q22.1 86473286 86828325 + 87283466 87638505 + 1580863;1626135;1626133;5508228;5684550;5684547;5684542;5684909;5684911;5684778;5684922;5684549;5684782;5684913;5684548;5684901;5684898;5684908;5684921;5684914;4891134;5684783;5684920;5684923;6480464;5684891;5684341;5147998;5684907;5684779;6907045 16702999;15494731;18780967;21330466;22027236;20638179;20124106;19844206;21223646;11360665;21612826;20956301;21603940;21900882;20553714;20597685;20357199;21411668;20557422;20863519;16141791;22097208;20662941;21456016;11226670;20445044;21193742 17889702;17884018;17873329;17720314;17616679;17611278;17570738;17200667;17008023;16964397;16939974;16862449;16786155;16713586;16713371;16701206;16648150;16647839;16335952;16051641;16034442;15838534;15657181;15647480;15637590;15489334;15389758;17918233;15329723;15304335;15167895;16805430;1710174;19488044;19453261;19403818;19365399;19363525;19307055;19268276;19170129;19156168;19124685;19086053;19018715;18992902;18727839;18678285;18595003;18534558;18511296;18428117;18319596;18293376;18286198;18253057;18203754;18201274;18075316;17971243;15024057;14702039;12921913;12912764;12808116;12719654;12477932;12471037;12419535;12367511;12237455;12074588;11855816;11849294;11798182;11738045;11432792;11251075;11162451;11157096;10533983;10388563;10386953;9927421;9856458;9648856;9573364;9507002;9312147;9195161;8895847;8621424;7936202;7823156;7789988;7759111;7679912;7574684;1645620;18457658;10092678;11263982;21728718;22426239;10631974;10490030;20428771;21295543;21419569;20463055;20610389;20156366;20615547;20811716;20877300;19913121;20628086;18959266;20673758;20202475;12006576;14617818;15513915;18637190;19386345;19417027;19548263;19598235;19635108;19641488;19741136;19765683;19801649;19816090;19874574;19879330;19885622;19927149;20014955;20083228;20101235;20132184;20186105;20193039;20219210;20379614;20468064;17674765;21187387;20878119;22209410;22490895;22906736;20703101;21426646;21126736;21239439;21414899;21242122;21670725;21192928;23086941;22842573;22902478;22609366;21215389;21079983;21379385;23064382;23124249;21711518;21999199;20694504;22393127;21750702;21849537;21849550;19087522;21552290;21047554;21739244;21802740;16113645;22020324;22028443;19953087;23416450;22341689;22343487;22258407;21966426;22425982;22322843;22710966;23058367;23137999;22719055;21988832;22361863;22939624;23185507;23332094;21795612;23192594;22886570 4915 Q16620;Q548C2;Q5VWE5 AB209118;ABBA01034027;ABBA01034028;ABBA01034029;ABBA01034030;ABBA01034031;ABBA01034032;AF086101;AF400441;AF410898;AF410899;AF410900;AF410901;AF410902;AF508964;AJ420458;AK092267;AK123824;AK289904;AK294285;AL390777;AL445532;AL533181;AL596132;AL713745;AL833196;AMYH01021466;AMYH01021467;AMYH01021468;AW235842;BC031309;BC031835;BC075804;BE466753;BX649001;CH471089;NG_012201;NM_001007097;NM_001018064;NM_001018065;NM_001018066;NM_006180;S76473;S76474;U12140;X75958 AAB33109;AAB33110;AAC51371;AAH31835;AAK92490;AAL67964;AAL67965;AAL67966;AAL67967;AAL67968;AAM77876;BAD92355;BAF82593;BAG57570;CAA53571;EAW62687;EAW62688;EAW62689;EAW62690;EAW62691;EAW62692;EAW62693;NP_001007098;NP_001018074;NP_001018075;NP_001018076;NP_006171;Q16620 Hs.494312;Hs.712776 1643638;1655960;1657301;1679898;1684926;1694722;1698198;1705244;1718183;1719821;1722109;1722203;1724701;1730153;1735930;1751041;1756035;1763051;1763131;1771436;1771438;1853776;2114368;2120422;2127769;2134935;2162398;2165457;2168271;2169729;2170832;2175633;2175635 A004Y44;A005L08;A005N29;A006U15;A008W23;AFMB335WB1;D9S1033E;D9S1063E;D9S1131;D9S1764;D9S185E;G15862;G20302;G20354;G43552;G60005;G60096;RH102635;RH122554;RH122860;RH123603;RH1565;RH46089;RH93005;SHGC-104995;SHGC-12933;SHGC-142847;SHGC-146793;SHGC-146862;SHGC-32034;SHGC-78112;WI-14821;WIAF-2133 GP145-TrkB;TRKB;trk-B BDNF-tropomyosine receptor kinase B;BDNF/NT-3 growth factors receptor;OTTHUMP00000021573;OTTHUMP00000021574;OTTHUMP00000021575;OTTHUMP00000021576;OTTHUMP00000021577;trk-B;trkB tyrosine kinase;tropomyosin-related kinase B;tyrosine kinase receptor B APPROVED protein-coding ENSG00000148053 8032 02712 600456;613886 REVIEWED 1319092 NTS neurotensin This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Jul 2008] 12 12 q21 84792206 84800898 + 86268073 86276770 + 1580863;6480464 17644423;7836437;8954810;19086053;18624930;18048355;17870207;17570131;17289170;17068197;16984735;16519961;16087676;15623535;15489334;15358593;15123666;14743366;14699144;12609826;12531461;12477932;12473660;12150975;11922768;11912133;11906607;11815627;11811984;11801734;11559354;11278902;9756851;9530155;8869556;8770919;8719037;8075503;22416137;7791794;6754769;3670596;3525564;1436492;409699;17207965;19878995;19932148;20138826;20468064;20731814;18577758;16754659;21030593;23109725;21272935;21212273;20810387;20858966;21233215;22700584;22849656;21508335;21542591;21623207;23064014;19393580;21806946;21994122;22825476 4922 F8VZY1;G3V1X6;P30990;Q6FH20 ABBA01053441;AC016993;AF157682;AF157683;AK312066;AMYH01004638;AW571577;BC010918;CH471054;CR541936;NM_006183;S47339;U91618 AAB23934;AAB50564;AAH10918;AAP37614;AAP37615;ADQ32622;BAG35002;CAG46734;EAW97400;EAW97401;NP_006174;P30990 Hs.80962 1744049;2110607 GDB:384937;NTS_8515 NMN-125;NN;NT;NT/N;NTS1 OTTHUMP00000242231;OTTHUMP00000242232;neurotensin/neuromedin N;pro-neurotensin/neuromedin APPROVED protein-coding ENSG00000133636 8038 08878 162650 REVIEWED 733351 NTSR2 neurotensin receptor 2 The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008] 2 2 p25.1 11715756 11727876 - 11798304 11810329 - 70631;1580863;6480464 8647296 10390649;9851594;8795617;19086053;18624930;15489334;15383539;12477932;12150975;12065070;12036977;11801734;11564178;16087676;19874574;19968961;20048080;20468071;16754659;23109725 23620 O95665 ABBA01015653;AC106875;AC110754;AMYH01010115;AY429107;BC022501;BC037776;BI758259;CH471053;NM_012344;Y10148 AAH22501;AAH37776;AAR07902;AAX82018;AAY14691;ABM84215;ABW03314;ABW03604;ABW03663;CAA71233;EAX00922;EAX00923;EAX00924;NP_036476;O95665 Hs.131138 2219210 NTSR2__6083 NTR2 NT-R-2;OTTHUMP00000147625;levocabastine-sensitive neurotensin receptor;neurotensin receptor type 2;neurotensin receptor, type 2 APPROVED protein-coding ENSG00000169006 8040 05704 605538 REVIEWED 1605098 NUAK1 NUAK family, SNF1-like kinase, 1 12 12 q23.3 104981255 105057941 - 106457125 106533811 - 6480464 16306228;17353931;18254724;16488889;16044163;15354411;15273717;15060171;14976552;14702039;13679856;12409306;9628581;20602751;19927127;20354225;20978832;21832049;21317932;21750233;22105900;22460906;12477932;19322201;23080069;23516026;23419831;23215946;23063350 9891 F8VSH4;F8VXF0;F8VZ96;O60285 AB011109;ABBA01053171;ABBA01053172;AC010182;AC011595;AK027302;AK289992;AMYH01004722;BC152462;BG831390;BQ694341;CH471054;CK001516;NM_014840;R61142 AAI52463;AAI60165;BAA25463;BAB55026;BAF82681;EAW97768;EAW97769;NP_055655;O60285 Hs.524692 1644560;1674579;1712478;1746281;1746315;2169648 G54188;G64547;G64587;RH44761;SGC30889;SGC32090 ARK5;KIAA0537 AMP-activated protein kinase family member 5;AMPK-related protein kinase 5;NUAK family SNF1-like kinase 1;OTTHUMP00000242029;OTTHUMP00000242032;omphalocele kinase 1 protein-coding ENSG00000074590 14311 12171 608130 VALIDATED 6481288 NUCB1-AS1 NUCB1 antisense RNA 1 100874085 AC026803 APPROVED miscrna 40419 1603952 NUAK2 NUAK family, SNF1-like kinase, 2 1 1 q32.1 203537814 203557506 - 205271191 205290883 - 6480464 18992219;18452098;18023418;16381901;15761153;15489336;15489334;15345718;14976552;14702039;14575707;12477932;11284715;11256614;11230166;11076863;18254724;19652946;20713714;21460252;19927127;21242312;21832049;22796592;21911917;16306228;19322201 81788 Q68E04;Q9H093 ABBA01027418;AC098933;AK074830;AK303577;AK309520;AL136891;AMYH01001670;BC017306;BX537564;CH471067;CQ782778;CR749209;NM_030952 AAH17306;BAC11234;BAG64597;CAB66825;CAF86008;CAH18066;CAL37782;EAW91549;NP_112214;Q9H093 Hs.497512 1685131;1766691;2116397;2129972;5015619;5015961;5020242;5022322;5024756;5037552;5491633 D11S2560;D11S2612;D11S3114;D15S1477;D8S2279;MARC_27500-27501:1034792583:1;RH80030;RH93941;SHGC-149973;SHGC-76219;SHGC-76220 DKFZp434J037;DKFZp686F01113;FLJ90349;SNARK NUAK family SNF1-like kinase 2;OTTHUMP00000035319;SNF1/AMP activated protein kinase;SNF1/AMP kinase-related kinase;omphalocele kinase 2 protein-coding ENSG00000163545 29558 12172 608131 PROVISIONAL 1321458 NUBP1 nucleotide binding protein 1 NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008] 16 16 16 p13.13 11007059 11032475 + 10745199 10770709 + 10837698 10863208 + 1580863;6480464 18573874;7926816;18676680;15342556;12477932;10915798;10486206;8125298;19170196;19625176;22863883;22939629;18029348;21139048;21900206;21906983;22505724 4682 I3L3A0;I3L518;I3L531;P53384 ABBA01006796;AC074136;AK223204;AK307148;AK310089;AMYH01007152;BC100290;BC109322;BC109323;BP216107;BP225034;CH471112;NM_001278506;NM_002484;U01833 AAA61932;AAI00291;AAI09323;AAI09324;BAD96924;EAW85178;NP_001265435;NP_002475;P53384 Hs.81469 1700250;2145908;2159128 240WE5;D16S2962;RH103742 MGC117406;MGC130052;MGC130053;NBP;NBP1 NBP 1;OTTHUMP00000160170;cytosolic Fe-S cluster assembly factor NUBP1;nucleotide binding protein (e.coli MinD like);nucleotide binding protein 1 (E.coli MinD like);nucleotide binding protein 1 (MinD homolog, E. coli);nucleotide-binding protein 1 APPROVED protein-coding ENSG00000103274 8041 02611 600280 VALIDATED 1602112 NUB1 negative regulator of ubiquitin-like proteins 1 This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 7 7 q36 150669791 150706468 + 151038847 151075547 + 6480464 16877356;16707496;15489334;15347646;15146197;15081406;15009209;14757770;14638743;12853948;12816948;12690205;12477932;12374762;11585840;11259415;10508479;14499622;22434192;22347407;22612509;22990118;15180275;16052170;16171779;16344560;16503656;17549501;18408180;19166848;19763160;20101219;20160729;23525043;18781797;16196087;21937912;21890473;21906983;22965877;21988832;23000965 51667 C9J7X7;C9JRT6;F8WDB6;F8WDL9;H3BM14;H3BM74;H7C5E1;H7C5N1;Q9Y5A7 AACC02000108;ABBA01035155;AC005486;AF108083;AF155099;AF300717;AF459743;AK026433;AK293159;AMYH01018144;AW205479;AY129295;BC034716;BC046354;BG105733;CH471173;CN258712;DB048887;NG_029746;NM_001243351;NM_016118 AAC82474;AAD42865;AAH46354;AAK21001;AAN01355;AAO14547;AAS02030;BAH11464;EAL24511;EAW54000;EAW54001;EAW54002;EAW54003;NP_001230280;NP_057202;Q9Y5A7 Hs.647082 1644396;1660301;1673226;1681205;1751381;1770986;2122293;2168749;2179557 GDB:1317446;GDB:4585237;GDB:4585447;RH17515;RH41874;RH48879;SGC34468;SHGC-105229;STS-T55335 BS4;NUB1L;NYREN18 NEDD8 ultimate buster 1;NEDD8 ultimate buster-1;NY-REN-18 antigen;OTTHUMP00000212033;OTTHUMP00000212055;renal carcinoma antigen NY-REN-18 APPROVED protein-coding ENSG00000013374 17623 07450 607981 REVIEWED 1349940 NUDCD1 NudC domain containing 1 8 8 8 q23 106440850 106534040 - 110322324 110415491 - 110253148 110346350 - 737633;6480464 12477932 14688378;11416219;18534745;18754882;19615732;22863883;21139048;21906983 84955 E5RGX7;E5RHQ3;Q96RS6 ABBA01037710;ABBA01037711;ABBA01037712;AC021237;AF283301;AF283302;AF521133;AK027897;AK301278;AK307663;AK311583;AK315006;AL832317;AMYH01018958;BC000967;BC031258;BC043406;CH471060;NM_001128211;NM_032869 AAH00967;AAH31258;AAH43406;AAK73017;AAM69373;AAQ08823;BAB55439;BAG62838;CAD38612;EAW91924;EAW91925;EAW91926;NP_001121683;NP_116258;Q96RS6 Hs.380291 1666709;1675463;1716337;1772647;2184150 RH121198;RH70342;RH98525;STS-AA009819;STS-N32587 CML66;FLJ14991;OVA66 OTTHUMP00000227940;OTTHUMP00000227941;chronic myelogenous leukemia tumor antigen 66;nudC domain-containing protein 1;tumor antigen CML66 protein-coding ENSG00000120526 24306 16200 606109 VALIDATED 1312953 NUBP2 nucleotide binding protein 2 NUBP2 is a member of the NUBP/MRP gene subfamily of ATP-binding proteins (see NUBP1; MIM 600280) (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 2045211 2051474 + 1772960 1779187 + 1832933 1839192 + 1580863;6480464 10486206;18676680;15489334;14702039;12970194;12477932;8889548;18573874;19170196;19625176;19692168;21216879;22863883;22939629;21139048 10101 B7Z6P0;H3BMW1;H3BNF0;H3BNS4;H3BQE5;H3BQR2;H3BRE1;H3BRK5;Q9Y5Y2 ABBA01030296;AC012180;AF118394;AK001023;AK093593;AK300696;AK315611;AL031724;AMYH01007040;BC002768;BC008005;BU680530;BX648907;CH471112;NM_012225 AAD45242;AAH02768;AAH08005;BAA91471;BAG37980;BAH13326;CAC36077;EAW85613;EAW85614;EAW85615;EAW85616;EAW85617;NP_036357;Q9Y5Y2 Hs.256549 1662192;1687295;1697474;2120193 RH102238;RH41941;RH98966;SHGC-57507 CFD1;NUBP1 C447E6.1 (nucleotide binding protein 1 (E.coli MinD like) );NBP 2;OTTHUMP00000158805;cytosolic Fe-S cluster assembly factor NUBP2;homolog of yeast cytosolic Fe-S cluster deficient 1;nucleotide binding protein 2 (E.coli MinD like);nucleotide binding protein 2 (MinD homolog, E. coli);nucleotide-binding protein 2 APPROVED protein-coding ENSG00000095906 8042 14846 610779 VALIDATED 1343672 NUBPL nucleotide binding protein-like This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. The respiratory complex I consists of 45 subunits and 8 iron-sulfur (Fe/S) clusters. This protein is an Fe/S protein that plays a critical role in the assembly of respiratory complex I, likely by transferring Fe/S into the Fe/S-containing complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding distinct isoforms have been identified.[provided by RefSeq, Jan 2011] 14 14 14 q12 11895904 12195785 + 31100342 31400181 + 32030591 32330430 + 6480464;7240710 19010793;18521091;15489334;15342556;14702039;12477932;8889548;20818383;20877624;20921969;17207965;19752196;23553477 80224 B3KSK2;B4DWB0;F8VP02;F8VZR8;F8W061;F8W0A2;H0YHR7;Q8TB37 ABBA01061425;ABBA01061426;AK022722;AK093789;AK295326;AK301447;AK316445;AL163973;AL355112;AL359400;AL390798;AMYH01005642;AMYH01005643;BC024919;BM978769;BP274976;BX248028;BX648419;CH471078;CT002019;NG_028349;NM_001201573;NM_001201574;NM_025152 AAH24919;ADQ31888;BAB14203;BAG52764;BAG58303;BAG62972;BAH14816;CAD62349;EAW65941;EAW65942;EAW65943;NP_001188502;NP_001188503;NP_079428;Q8TB37 Hs.288981 1336437;1703536;1717253;1767583;1852151;2129864;2130717;2131783;2132146;2133341;2134888;2146969;2155458;2167367;2185750;5015619;5015961;5022578;5037552 D11S3114;D14S1040;D14S914;D14S941;D15S1477;D1S1423;D8S2279;G35364;G35381;G35403;G35437;G35639;G35657;G35670;G36128;RH122041;SHGC-37051;SHGC-82729;WI-11174 C14orf127;FLJ12660;IND1;huInd1 IND1 homolog;OTTHUMP00000243992;OTTHUMP00000243993;iron-sulfur protein NUBPL;iron-sulfur protein required for NADH dehydrogenase;nucleotide-binding protein-like APPROVED protein-coding ENSG00000151413 20278 16600 252010;613621 REVIEWED 734023 NUCB1 nucleobindin 1 This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010] 19 19 q13.33 54091637 54118340 + 49403307 49426540 + 1580863;6480464 22542527;1520323;15308636;18154733;18029348;17686766;17390015;15489334;15287731;14702039;12477932;11752444;10915798;9647645;9589460;8661046;8643612;8125298;7589456;20679342;18316326;19656946;20503436;8147883;9417904;22863883;22939629;21653697;23195954 4924 A8K7Q1;C9J3C1;C9JBD3;C9JKZ2;F8WB20;H7BZI1;Q02818 ABBA01032960;ABBA01032961;AC026803;AI208532;AK025458;AK097790;AK222805;AK292066;AK303126;AK315422;AMYH01009908;BC002356;BC015787;BT009828;BX647291;BX647718;CH471177;M96824;NM_006184;U31336;U31337;U31338;U31339;U31340;U31341;U31342;U92978 AAA36383;AAB60431;AAH02356;AAH15787;AAP88830;AAX41711;AAX41712;AAX41713;AAX41714;BAD96525;BAF84755;BAG37811;BAG53528;BAG64232;BAI45949;EAW52411;EAW52412;NP_006175;Q02818 Hs.631602 1675694;1696882;1698066;1734606;1749171;2144270;5093400;5118099 D19S616E;G32696;G64281;RH102565;RH36573;RH80298;SHGC-110859;b05503rbk CALNUC;DKFZp686A15286;FLJ40471;NUC OTTHUMP00000201847;OTTHUMP00000201848;OTTHUMP00000201853;nucleobindin-1 APPROVED protein-coding ENSG00000104805 8043 03205 601323 REVIEWED 1352388 NUDCP1 nuclear distribution gene C homolog (A. nidulans) pseudogene 1 2 2 2 q23.3 146860578 146861842 + 152954336 152955625 + 153246099 153247363 + 10453739 10790 ABBA01004792;AC012066;AF125466;AMYH01011181;NG_001230 2178013 RH69664 pseudo 8046 INFERRED 734220 NUCB2 nucleobindin 2 This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011] 11 11 p15.1 17254862 17309646 + 17298286 17353070 + 1580863;6480464 22334726;7811391;15308636;18029348;19351608;18154733;16407280;16344560;14702039;12477932;12087473;11749975;10915798;10381334;9639681;12909641;21252251;15604093;20032201;20427483;20427481;20625762;19262995;19913121;20628086;20813143;23155701;22367584;22950627;22270345;20030931;21459029;22863883;21554911;21653697;21139048;21890473;21988594;23269222;21803054;22020667;22036920;20937336;22203468;22225987;22108805;20881960;21145461;23266808;21988832;23141462;23178145 4925 E9PJP3;E9PKG6;E9PLE9;E9PLR0;E9PLR5;E9PM22;E9PRQ3;H0YD18;H0YEG8;J3KQU0;P80303 AB231311;AB478625;ABBA01061065;ABBA01061066;AC107956;AF052642;AF052643;AF052644;AF450266;AK093209;AK097398;AK128739;AK291507;AMYH01003414;BC111556;CH471064;DA816251;EU039831;EU039832;EU039833;NM_005013;X76732 AAC06300;AAC06301;AAC06302;AAM73810;ABS85532;ABS85533;ABS85534;BAE78964;BAF84196;BAJ09615;CAA54148;EAW68439;EAW68440;EAW68441;NP_005004;P80303 Hs.654599 1669868;1674338;1857842;2191187;5113216 D11S4169;MARC_16009-16010:1017078784:5;RH45016;RH98164;STS-N41019 NEFA DNA-binding protein NEFA;OTTHUMP00000231791;OTTHUMP00000231793;OTTHUMP00000231794;gastric cancer antigen Zg4;nefa precursor;nesfatin-1;nucleobindin-2;nucleobinding 2;prepronefastin;prepronesfatin APPROVED protein-coding 8044 09726 608020 VALIDATED 1343726 NUDCP2 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 2 2 2 q31 172922329 172923271 + 179027685 179028634 + 179319443 179320385 + 10453739 10789 ABBA01062244;AC009948;AF125467;AMYH01011305;NG_001229;NG_009053;NG_012186 pseudo 8047 INFERRED 1353286 NUDCD2 NudC domain containing 2 5 5 5 q34 158914701 158921251 - 162813164 162819721 - 162880586 162887143 - 737633;6480464 12477932 11256614;16381901;15489336;15489334;11230166;11076863;20133715;22939629;21044950;21139048;21906983;22505724 134492 E5RFP0;Q8WVJ2 ABBA01044183;AC112205;AK311957;AMYH01015770;BC017934;BX538290;CH471062;FJ215684;NM_145266 AAH17934;ACJ05660;BAG34897;CAD98085;CAL37614;CAL38316;EAW61527;NP_660309;Q8WVJ2 Hs.140443 1646411;2139537;2159867;5015961;5020946;5022322;5022578;5037552;5092628 A005C11;D11S2560;D15S1477;D1S1423;D8S2279;G32223;L17971;RH36151;WI-14118 DKFZp686E10109 NudC-like protein 2;OTTHUMP00000160915;OTTHUMP00000224280;nudC domain-containing protein 2 protein-coding ENSG00000170584 30535 14058 PROVISIONAL 736162 NUCKS1 nuclear casein kinase and cyclin-dependent kinase substrate 1 This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010] 1 1 q32.1 203953732 203985916 - 205681947 205719372 - 6480464 16097034;15489334;19165527;18491381;17604136;17081983;16964243;16344560;15302935;14702039;12477932;12413487;12368243;11298763;8125298;16169070;15381070;15345747;20683486;19915575;19915576;20069058;20379614;12107411;22863883;22939629;17342744;19322201;21139048;19664271;23269536;23449627;23065711 64710 Q9H1E3 AA760780;AB049824;ABBA01027406;ABBA01027407;AC119673;AF130080;AJ012584;AJ237668;AK025133;AK056578;AK095855;AK225228;AK300416;AMYH01001674;AMYH01001675;AY823399;BC000805;BC016311;BC025313;BC039469;BC067224;BC107728;BQ638451;CH471067;CR457339;DB004374;NG_027548;NM_022731 AAG35506;AAH00805;AAV83925;ABM82144;ABM85327;BAB15076;BAC06820;BAG62145;CAC20408;CAC20412;CAG33620;EAW91578;EAW91579;NP_073568;Q9H1E3 Hs.213061;Hs.744865 1335951;1646396;1654770;1666980;1680643;1684018;1707212;1722695;1735962;1776999;1777053;2114735;2134576;2135097;2166318;2175103;2177667;5021317 D1S1909E;D1S1948E;D1S2379;D1S249;D1S3583;EST5G8;G34857;G34864;G60432;RH68392;RH98313;RH98819;SHGC-30044;SHGC-32226;SHGC-76227;SHGC-76245;SHGC-76252;SHGC-79193 FLJ21480;FLJ32016;FLJ38536;JC7;NUCKS OTTHUMP00000034230;P1;nuclear ubiquitous casein and cyclin-dependent kinase substrate 1;nuclear ubiquitous casein and cyclin-dependent kinases substrate;nuclear ubiquitous casein kinase 2;nuclear ubiquitous casein kinase and cyclin-dependent kinase substrate;potential LAG1 interactor APPROVED protein-coding ENSG00000069275 29923 11406 611912 REVIEWED 1352246 NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 NUDT10 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008] X X X p11.23 55118909 55124202 + 51091823 51097117 + 51075083 51080377 + 6480464 18264098;18264097;15772651;15489334;12477932;12105228;12370170;12121577;20564319;16169070;17207965;21071540 170685 Q8NFP7 ABBA01060011;ABBA01060012;AC233976;AF469196;AK291952;AL158055;AMYH01022334;AMYH01022335;AMYH01022336;BC049383;BC050700;CH471180;NM_153183 AAH49383;AAH50700;AAM64113;ADQ33055;BAF84641;EAW89910;EAW89911;NP_694853;Q8NFP7 Hs.375178 2131572;2131574;5015306;5024906 DXS7057;NUDT11;SHGC-24010;WI-13729 APS2;DIPP3a;hDIPP3alpha DIPP-3-alpha;DIPP3-alpha;OTTHUMP00000023298;OTTHUMP00000023299;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-alpha;diadenosine hexaphosphate hydrolase (AMP-forming);diphosphoinositol polyphosphate phosphohydrolase 3-alpha;diphosphoinositol polyphosphate phosphohydrolase type 3 alpha;hAps2;nucleoside diphosphate-linked moiety X motif 10;nudix motif 10 APPROVED protein-coding ENSG00000122824 17621 17651 300527 PROVISIONAL 731477 NUDC nudC nuclear distribution protein This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012] 1 1 p35-p34 27120811 27145474 + 27248213 27273362 + 1358139;1580863;6480464 17353931;10210332;18288130;17658515;17081983;16860740;16710414;16381901;16088917;15489336;15489334;14676831;12852857;12679384;12477932;11734602;11256614;11230166;11076863;10453739;9601647;20675372;19560457;19615732;18029348;20562859;20529857;19875381;21473139;22939629;22623428;23000965;19135240;21907836;20360068;21081666;21044950;15342556;21139048;21890473;21906983;12885786;22190034;22505724;22863883;22990118 10726 Q9H2R7;Q9Y266 AB019408;ABBA01034934;ABBA01034935;ABBA01034936;ABBA01034937;ABBA01034938;AF086922;AF100760;AF125465;AF130736;AF241788;AL136725;AL356390;AMYH01000414;AMYH01000415;BC002399;BC003132;BC006147;BC007280;BC015153;BC021139;BP348144;CH471059;NM_006600 AAD30517;AAD39921;AAD43024;AAG44476;AAH02399;AAH03132;AAH06147;AAH07280;AAH15153;AAH21139;AAP97152;BAA76628;CAB66659;CAL37600;CAL38129;EAX07780;NP_006591;Q9Y266 Hs.263812 2178013;2179828;5022322;5037552 D11S2560;D8S2279;RH69664;SHGC-33625 HNUDC;MNUDC;NPD011 OTTHUMP00000004405;nuclear distribution C homolog;nuclear distribution gene C homolog;nuclear distribution gene c homolog (aspergillus);nuclear distribution protein C homolog;nuclear migration protein nudC APPROVED protein-coding ENSG00000090273 8045 10122 610325 REVIEWED 731881 NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008] 7 7 p22 2248383 2257306 + 2281857 2290780 + 1580863;6480464 7713500;17353931;8226881;18848840;18776649;18708163;18515411;18510611;18270339;18091433;17917452;17417778;17252231;17207658;17142918;16774934;16607562;16600130;15931596;15730954;15654505;15516784;15489334;15449173;15133035;15095864;14634838;12957652;12903117;12857738;12757855;12690205;12619034;12477932;12051941;12051680;11852070;11756418;11572992;11136354;10536140;9211940;7782328;7713494;12717453;21145461;21355073;10608900;18029348;20144704;20453000;21289483;21421019;21787772;22841817;21784087;22688191;21538080;23396182;10373420;21139048;21906983;11139615;21963094;22790201;23295485 4521 C9J361;P36639 AACC02000053;AB025233;AB025234;AB025235;AB025236;AB025237;AB025238;AB025239;AB025240;AB025241;AB025242;ABBA01039362;AC004971;AK026631;AMYH01016968;BC014618;BC022818;BC040144;BC051375;BC065367;BM927392;CH236953;CH471144;CR407655;D16581;D38594;DQ230907;NM_002452;NM_198948;NM_198949;NM_198950;NM_198952;NM_198953;NM_198954 AAH14618;AAH40144;AAH51375;AAH65367;ABB02181;BAA04013;BAA07601;BAA83791;BAA83792;BAA83793;BAA83794;BAA83795;BAA83796;BAA83797;BAA83798;BAA83799;BAA83800;CAG28583;EAL23948;EAL23949;EAW87225;EAW87226;EAW87227;EAW87228;EAW87229;EAW87230;EAW87231;EAW87232;NP_002443;NP_945186;NP_945187;NP_945188;NP_945190;NP_945191;NP_945192;P36639 Hs.534331 1676874;2152985 MTH1;RH80750 MTH1 2-hydroxy-dATP diphosphatase;7,8-dihydro-8-oxoguanine triphosphatase;8-oxo-7,8-dihydrodeoxyguanosine triphosphatase;8-oxo-7,8-dihydroguanosine triphosphatase;8-oxo-dGTPase;OTTHUMP00000024690;OTTHUMP00000115537;OTTHUMP00000115538;OTTHUMP00000115539;OTTHUMP00000115540;mutT human homolog 1;mutt (e. coli) human homolog (8-oxo-dgtpase);nucleoside diphosphate-linked moiety X motif 1;nucleoside diphosphate-linked moiety X-type motif 1;nudix motif 1 APPROVED protein-coding ENSG00000106268 8048 02634 600312 REVIEWED 6769654 NUDT15P1 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1 8 q12.1 60470019 60470480 - 574532 ABBA01041796;AC087664;AMYH01018750;NG_031937 pseudo 17266 INFERRED 6484483 NUDT15P2 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2 17 q11.2 30755106 30762447 - 574533 ABBA01000716;AC005899;AMYH01008336;NG_032793 pseudo 20784 INFERRED 1343668 NUDT11 nudix (nucleoside diphosphate linked moiety X)-type motif 11 NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008] X X X p11.22 55276697 55283279 - 51249603 51256199 - 51232863 51239459 - 1580863;6480464 15772651;11256614;18264098;18264097;16381901;15489336;15489334;15345747;14702039;12477932;12370170;12121577;12105228;11076863;19902474;21071540;21139048;22730461 55190 Q96G61 ABBA01059995;ABBA01059996;AK001490;AL158055;AMYH01022336;BC009942;BX419815;CH471180;NM_018159 AAH09942;BAA91720;CAL37484;EAW89906;NP_060629;Q96G61 Hs.200016 1648997;1664439;1689909;2133993;5024906;5092700 A005Q38;G15138;G32273;NUDT11;RH91954;WI-21118 APS1;ASP1;DIPP3b;DIPP3beta;FLJ10628;hDIPP3beta DIPP-3-beta;DIPP3-beta;OTTHUMP00000023300;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta;diadenosine hexaphosphate hydrolase (AMP-forming);diphosphoinositol polyphosphate phosphohydrolase 3, beta;diphosphoinositol polyphosphate phosphohydrolase 3-beta;hAps1;nucleoside diphosphate-linked moiety X motif 11;nudix motif 11 APPROVED protein-coding ENSG00000196368 18011 06667 300528 VALIDATED 1344595 NUDCD3 NudC domain containing 3 The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008] 7 7 7 p13-p12 44520966 44629392 - 44388490 44496910 - 44421965 44530385 - 6480464 16754861;16189514;15489334;15146197;14702039;12853948;12690205;12477932;11181995;10470851;9847074;21145461;20562859;19615732;19806165;20379614;22863883;22939629;21139048;21890473;21906983;19875381 23386 Q8IVD9 AACC02000110;AB028991;ABBA01058218;AC004453;AK024226;AK025555;AK026126;AK124729;AK127163;AK307613;AMYH01017211;AW138459;BC003691;BC011673;BC017657;BC035014;CH236960;CH471128;CN386226;EU350932;NM_015332 AAH03691;AAH11673;AAH35014;AAQ96892;ABY60409;BAA83020;BAB14855;EAL23754;EAW61099;EAW61100;EAW61101;NP_056147;Q8IVD9 Hs.488171 1335388;1340772;1650942;1723517;1735708;1740017;1777761;1847901;1858297;2120197;2152299;2171231;7185538;7185539 AFMA309XB1;D7S2164E;D7S2394;D7S2528;D7S2801;D7S667;GDB:1318304;GDB:1318344;RH118576;RH48524;T03354;WI-20696 KIAA1068;NudCL NudC-like protein;OTTHUMP00000159457;nudC domain-containing protein 3 APPROVED protein-coding ENSG00000015676 22208 13831 610296 REVIEWED 1347227 NUDT16 nudix (nucleoside diphosphate linked moiety X)-type motif 16 3 3 3 q22.1 129526187 129533346 + 132583397 132587619 + 131100515 131107674 + 737633;1580863;6480464 12477932 15489334;14702039;18607096;17567574;21070968;20385596;16712791;15342556;18820299;20081199;15053875;21337011 131870 Q96DE0 ABBA01059194;AC010210;AK055827;AK091353;AK093567;AK295852;AK304650;AMYH01013495;BC009546;BC031215;BP199028;BP219080;CB121755;CH471052;DC343245;NM_001171905;NM_001171906;NM_152395;NR_033268 AAH09546;AAH31215;BAB71024;BAG58658;BAG65426;EAW79210;NP_001165376;NP_001165377;NP_689608;Q96DE0 Hs.282050 1658997;1697660;1769938;2132288;2136456;2163284;2185390 RH102345;RH48866;RH68746;RH79085;SHGC-35112;SHGC-77345;SHGC-77347 FLJ31265;FLJ34034;FLJ36248 IDP phosphatase;IDPase;OTTHUMP00000216444;OTTHUMP00000216445;U8 snoRNA-binding protein H29K;U8 snoRNA-decapping enzyme;inosine diphosphate phosphatase;m7GpppN-mRNA hydrolase;nucleoside diphosphate-linked moiety X motif 16;nudix motif 16 protein-coding ENSG00000198585 26442 08097 VALIDATED 1349007 NUDT13 nudix (nucleoside diphosphate linked moiety X)-type motif 13 10 10 10 q22.1 68155703 68177250 + 74540216 74561587 + 74870210 74891581 + 6480464 15489334;15164054;12477932;11329013;16385451;20877624;22797925 25961 B4DV90;B4E059;Q5SQM6;Q86X67 ABBA01020336;ABBA01020337;ABBA01020338;ABBA01020339;AC016394;AK300980;AK303235;AK309755;AK316538;AL050114;AL731721;AMYH01002827;BC031224;BC038833;BC046173;BG191548;CH471083;NM_015901 AAH31224;AAH46173;BAG62602;BAG64321;BAH14909;CAB43279;EAW54471;EAW54472;EAW54473;EAW54474;EAW54475;NP_056985;Q86X67 Hs.533657 1660244;1662958;2109585;2119109 NUDT13_9439;RH79087;STS-N33610;STS-W80642 OTTHUMP00000019799;OTTHUMP00000019800;OTTHUMP00000035577;nucleoside diphosphate-linked moiety X motif 13;nudix motif 13 protein-coding ENSG00000166321 18827 10124 609233 VALIDATED 1322074 NUDT12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] 5 5 5 q21.2 98832394 98846327 - 102912455 102926389 - 102884556 102898490 - 1580863;6480464;6907045 11256614;16381901;15489336;15489334;14702039;12790796;12477932;11230166;11076863;16712791;20379614;23290196;23400010 83594 E7EM93;Q9BQG2 ABBA01069144;AC008519;AK098066;AK304010;AK309942;AL136592;AMYH01015516;BC026748;BC041099;BC042967;BU621954;CB131118;CH471086;NM_031438 AAH26748;AAH41099;BAG53574;BAG64925;CAB66527;CAL37409;EAW49073;NP_113626;Q9BQG2 Hs.434289 1739243;1854652 D5S1802;SHGC-36365 DKFZp761I172 OTTHUMP00000158933;OTTHUMP00000222655;nucleoside diphosphate linked moiety X-type motif 12;nucleoside diphosphate-linked moiety X motif 12;nudix motif 12;peroxisomal NADH pyrophosphatase NUDT12 APPROVED protein-coding ENSG00000112874 18826 10123 609232 VALIDATED 1350013 NUDT17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 1 1 1 q21.1 119789861 119792805 - 144297848 144300792 - 145586491 145589435 - 737633;6480464 12477932 16710414;14702039;8889549 200035 H7C023;P0C025 AA287243;ABBA01005742;AC239808;AK091752;AK298083;AL160282;AMYH01001373;BC046352;BG820863;CH471244;NM_001012758 BAG60370;EAW71432;EAW71433;NP_001012776;P0C025 Hs.585066 1658474;1660212;1680026;1699506;2175665 RH103347;RH68119;RH79814;SHGC-32015;WI-20383 FLJ34433 OTTHUMP00000015590;nucleoside diphosphate-linked moiety X motif 17;nudix motif 17 protein-coding 26618 18573 VALIDATED 5683669 NUDT19P1 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1 X q 118353971 118357208 - 100126008 ABBA01036707;ABBA01036708;AC004835;AMYH01022880;NG_006970 2055174 REN98751 pseudo 43585 INFERRED 5683668 NUDT19P2 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2 X 102261999 102262992 + 100422458 ABBA01020999;AMYH01022794;NG_026867;Z73361 2160210 L77850 pseudo 43586 INFERRED 5683650 NUDT19P3 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3 6 114341213 114341804 - 100422450 ABBA01026061;AL590398;AMYH01016607;NG_025857 pseudo 43587 INFERRED 5683666 NUDT19P4 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4 6 44866370 44867032 + 100422452 ABBA01050635;AL360272;AMYH01016324;NG_025936 pseudo 43588 INFERRED 5683649 NUDT19P5 nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5 4 159103977 159104545 + 100422445 ABBA01070203;AC098679;AMYH01014642;NG_025267 pseudo 43589 INFERRED 1321575 NUDT14 nudix (nucleoside diphosphate linked moiety X)-type motif 14 UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003 [PubMed 12429023]).[supplied by OMIM, Mar 2008] 14 14 14 q32.33 85692507 85700860 - 104710321 104718685 - 105639274 105647660 - 1580863;6480464 12620389;16344560;15489334;12508121;12477932;12429023;21044950 256281 F8VU44;O95848 AB087802;ABBA01008862;AF111170;AK128196;AK310449;AL512355;AMYH01006077;BC041584;BE671270;CH471061;DA249638;DA409636;DB096906;NM_177533 AAD15563;AAH41584;ADR82737;BAC65455;BAG54649;EAW81902;EAW81903;EAW81904;EAW81905;NP_803877;O95848 Hs.526432 5015961;5022322 D11S2560;D15S1477 UGPP;UGPPase OTTHUMP00000028453;OTTHUMP00000163909;UDP-sugar diphosphatase;UDPG pyrophosphatase;nucleoside diphosphate linked moiety X-type motif 14;nucleoside diphosphate-linked moiety X motif 14;nudix motif 14;uridine diphosphate glucose pyrophosphatase APPROVED protein-coding ENSG00000183828 20141 14847 609219 VALIDATED 1317982 NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 13 13 13 q14.2 29666454 29676033 + 47509704 47519283 + 48611703 48621282 + 1580863;6480464 15489334;15057823;14702039;12767940;12477932;19419956;20144704 55270 Q9NV35 ABBA01051001;AK001818;AL158196;AMYH01005099;BC050698;BC064607;BC107875;BC133015;BC133017;CH471075;NM_018283 AAH64607;AAI07876;AAI33016;AAI33018;BAA91925;EAX08782;NP_060753;Q9NV35 Hs.144407 FLJ10956;MGC104352;MTH2;RP11-90M2.1 7,8-dihydro-8-oxoguanine-triphosphatase NUDT15;8-oxo-dGTPase NUDT15;A730068G11Rik;OTTHUMP00000018389;mutT homolog 2;nucleoside diphosphate-linked moiety X motif 15;nudix motif 15;nudix-type motif 15;probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15;probable 8-oxo-dGTP diphosphatase NUDT15 protein-coding ENSG00000136159 23063 14848 PROVISIONAL 1602031 NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 19 19 19 q13.11 29876499 29898331 + 37874707 37896542 + 33182867 33204702 + 6480464 16344560;16185196;20877624;20178365;22939629;21139048;21906983;21963094;23222517;23377640;22797925 390916 A8MXV4 ABBA01039600;ABBA01039601;AC008736;AMYH01009696;AMYH01009697;CA438814;DA658958;DN998957;NM_001105570 A8MXV4;NP_001099040 Hs.203961 1731369;2157214;5015861;5016478;5022651;5037552;7184802;7185938 D10S16;D11S2921;D18S21;D8S2279;GDB:434012;STS-N33295 RP2 nucleoside diphosphate-linked moiety X motif 19, mitochondrial;nudix motif 19 protein-coding ENSG00000213965 32036 VALIDATED 1603358 NUDT16P1 nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 1 3 3 3 q22.1 129506361 129509638 + 132563428 132566656 + 131080689 131083966 + 6480464 16344560;12477932;21832049 152195 ABBA01059194;AC010210;AK000532;AK297126;AMYH01013495;BC015593;CH471052;DA541046;NR_002949;NR_027766 BAG59631;EAW79211 Hs.380350 1682694;2163284 RH92218;SHGC-77345 FLJ20525;NUDT16P APPROVED pseudo ENSG00000246082 27189 14093 VALIDATED 4891984 NUDT21P1 nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1 13 13 69259147 69259736 - 88417862 88418451 - 100422467 ABBA01027271;AL445647;AMYH01005271;NG_024870 pseudo 39461 INFERRED 1605623 NUDT18 nudix (nucleoside diphosphate linked moiety X)-type motif 18 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012] 8 8 8 p21.3 20926679 20929248 - 22020328 22022877 - 21964383 21966932 - 6480464 16713569;16344560;16189514;12477932;19060904;17207965;21044950;22556419 79873 E5RH65;E5RJJ3;H0YBR1;Q6ZVK8 ABBA01005504;AC091171;AC105206;AK026147;AK124446;AMYH01018565;BC016902;CH471080;DA015404;NG_032941;NM_024815 AAH16902;ADQ32358;BAB15376;BAC85853;EAW63719;NP_079091;Q6ZVK8 Hs.527101;Hs.740821 2159931 D8S322 FLJ22494;MTH3 2-hydroxy-dADP phosphatase;7,8-dihydro-8-oxoguanine phosphatase;8-oxo-dGDP phosphatase NUDT18;OTTHUMP00000224852;mutT homolog 3;mutT human homolog 3;nucleoside diphosphate-linked moiety X motif 18;nudix motif 18 APPROVED protein-coding 26194 07992 REVIEWED 1343260 NUDT4P1 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 1 1 q21.1 143848636 143851200 - 145136118 145139902 - 15342556;11376937 440672 AC245389;AF311215;AL359758;AMYH01001373;BF588558;BP248127;NR_002212 Hs.601274 1679998;2128159;2143448;5015961;5022322;5037552;5092772 D11S2560;D15S1477;D8S2279;G32320;RH44622;RH66999;RH69482 FLJ23763;NUDT4P2 pseudo 18012 VALIDATED 1344947 NUDT4P2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 p12-p13 11376937 170688 AC243756;AF311216;AK074343;NR_104005 Hs.601274 pseudo 18013 VALIDATED 1342997 NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 16 16 16 p13.3 4952472 4954638 + 4683717 4685846 + 4743694 4745860 + 6480464;6484113 15635413;15489334;14702039;12477932;11805099;21145461;16344560;8889548;17207965;18820299;21832049;19953087;21139048;21890473;21906983;22505724 84309 B2RD96;K7EIN2;K7ENA3;Q9BRJ7 ABBA01026783;AC023830;AK092642;AK315456;AMYH01007107;BC006223;BQ923183;BU739233;CH471112;DA607298;NM_001193452;NM_032349 AAH06223;ADQ32796;BAC03933;BAG37843;EAW85277;EAW85278;NP_001180381;NP_115725;Q9BRJ7 Hs.513315 1665763;1690292;1736428 D14S690E;RH91773;SHGC-60731 MGC11275;SDOS NUDT16-like protein 1;OTTHUMP00000159845;protein syndesmos protein-coding ENSG00000168101 28154 15309 VALIDATED 1352613 NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] 9 9 p13 34319504 34333696 + 34329504 34343711 + 1580863;6480464;6907045 11738085;7487923;10452553;15772762;15489334;12767470;12673352;12477932;10620341;9650578;9479504;8810257;8381042;7767787;1652465;15596429;20144233;20877624;20533549;7566098;21139048 318 P50583 AA310093;AA398857;ABBA01065014;AL353662;AL356494;AMYH01019335;BC004926;BG622439;BG825757;BM802700;BQ007098;CH471071;DN992111;NM_001161;NM_001244390;NM_147172;NM_147173;U30313 AAC50277;AAH04926;ABM83899;ABM87220;EAW58461;EAW58462;EAW58463;NP_001152;NP_001231319;NP_671701;NP_671702;P50583 Hs.493767;Hs.731743 1778917;2219212 NUDT2__6086;STS-N45093 APAH1;MGC10404 Ap4A hydrolase 1;Ap4Aase;OTTHUMP00000021256;OTTHUMP00000021257;OTTHUMP00000021258;OTTHUMP00000021259;bis(5'-nucleosyl)-tetraphosphatase;bis(5'-nucleosyl)-tetraphosphatase (asymmetrical);bis(5'-nucleosyl)-tetraphosphatase [asymmetrical];diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase;diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase;diadenosine tetraphosphatase;nucleoside diphosphate-linked moiety X motif 2;nudix motif 2 APPROVED protein-coding ENSG00000164978 8049 04168 602852 REVIEWED 1350832 NUDT7 nudix (nucleoside diphosphate linked moiety X)-type motif 7 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 16 16 16 q23.1 62054090 62073833 + 76313912 76333655 + 77756389 77776157 + 6480464 15616553;11415433;21145461;19844255;20178365;15146197;23251661 283927 H3BMZ7;H3BRQ8;H3BUB8;P0C024 AA227330;AA579048;ABBA01017031;AC092134;AC092724;AI927964;AK296963;AMYH01007825;BU579534;BX387030;BX494638;CH471114;CN297379;ES309123;EU981826;NG_028059;NM_001105663;NM_001243657;NM_001243660;NM_001243661 AAI72303;ACH71652;BAG59507;EAW95595;EAW95596;NP_001099133;NP_001230586;NP_001230589;NP_001230590;P0C024 Hs.282665 1699930 RH103573 nucleoside diphosphate-linked moiety X motif 7;nudix motif 7;peroxisomal coenzyme A diphosphatase NUDT7 APPROVED protein-coding ENSG00000140876 8054 609231 REVIEWED 1320353 NUDT4 nudix (nucleoside diphosphate linked moiety X)-type motif 4 The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008] 12 12 12 q21 93442852 93467713 + 92295832 92321155 + 93771701 93797024 + 1580863;6480464 10777568;15489334;15252450;12477932;12370170;12121577;11376937;9455484;8125298 11163 F8VRL4;F8VRR0;Q9NZK1 AB007956;ABBA01053376;ABBA01053377;ABBA01053378;AC025260;AC090050;AC124947;AF067803;AF191649;AF191650;AF191651;AF191652;AF191653;AF191654;AF191655;AK223497;AK304296;AK315778;AMYH01004659;BC012069;BC051310;BG777287;BM193309;BT020109;BT020110;CB961167;CH471054;CR749445;DQ786307;NG_029507;NM_019094;NM_199040 AAF68855;AAF68856;AAF68857;AAF68858;AAF68859;AAF75563;AAH12069;AAH51310;AAV38912;AAV38913;ABM83125;ABM86320;BAD97217;BAE16985;BAG38126;BAH14152;CAH18283;EAW97475;EAW97476;EAW97477;EAW97478;EAW97479;NP_061967;NP_950241;Q9NZJ9 Hs.506325 1658539;1677696;1679998;1704084;1739613;1746899;1774007;2128159;2143448;5015961;5022322;5037552;5092772;5111647 D11S2560;D12S1482E;D15S1477;D8S2279;G32320;G64791;RH44622;RH66999;RH69428;RH69482;RH98224;SHGC-83355;WI-15515;WI-17678 DIPP2;DIPP2alpha;DIPP2beta;DKFZp686I1281;HDCMB47P;KIAA0487 DIPP-2;OTTHUMP00000243079;OTTHUMP00000243080;OTTHUMP00000243082;OTTHUMP00000243083;OTTHUMP00000243084;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 2;diphosphoinositol polyphosphate phosphohydrolase 2;diphosphoinositol polyphosphate phosphohydrolase type 2;nucleoside diphosphate-linked moiety X motif 4;nudix motif 4 APPROVED protein-coding ENSG00000173598 8051 14850 609229 REVIEWED 1320933 NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011] 6 6 6 p21.2 35810343 35914774 - 34363975 34468419 - 34254971 34360457 - 1580863;6480464 9822604;10419486;16189514;16169070;15489334;14574404;12477932;12370170;10585413;19585659;19893584;20935630;16344560;19322201;21900206;21139048 11165 O95989 ABBA01038183;ABBA01038184;ABBA01038185;ABBA01038186;ABBA01038187;AF062529;AF062530;AK313440;AL355855;AMYH01016255;AMYH01016256;BC007727;BC024593;BG714472;BT019984;BT019985;CA430332;CH471081;DA803962;NM_006703;Z98036 AAC83224;AAC83225;AAH07727;AAV38787;AAV38788;ABM84044;ABM87390;BAG36231;EAX03781;NP_006694;O95989 Hs.188882 1654970;1675025;1693942;1738057;5015404;5015861;5022576;5022651;5109092;5109663;5118444;7185938 1866;D10S16;D11S2921;D11S3316;D11S3674;D1S1361;D7S2067E;D8S1027;G42665;L17705;RH37434 DIPP;DIPP-1;DIPP1 DIPP-1;OTTHUMP00000016227;diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 1;diphosphoinositol polyphosphate phosphohydrolase 1;nucleoside diphosphate-linked moiety X motif 3;nudix motif 3 APPROVED protein-coding 8050 14849 609228 VALIDATED 1601846 NUDT22 nudix (nucleoside diphosphate linked moiety X)-type motif 22 11 11 11 q13.1 61320590 61324340 + 63750338 63754064 + 63993738 63997488 + 6480464 15489334;12477932;20237496;19913121;20628086;21139048;21890473;21906983;22505724 84304 C9JY06;F5H1N0;G3V1M6;H0YGG2;J3KQJ3;Q9BRQ3 ABBA01003289;ABBA01003290;AK308555;AMYH01003702;AP001453;AP006334;BC006129;BG705568;BM045237;BM923060;CH471076;HY075773;HY160553;NM_001128612;NM_001128613;NM_001271831;NM_032344 AAH06129;ADZ15364;EAW74204;EAW74205;EAW74206;EAW74207;EAW74208;EAW74209;EAW74210;EAW74211;NP_001122084;NP_001122085;NP_001258760;NP_115720;Q9BRQ3 Hs.656074;Hs.744098 MGC13045 OTTHUMP00000236873;OTTHUMP00000236874;nucleoside diphosphate-linked moiety X motif 22;nudix motif 22 protein-coding ENSG00000149761 28189 14434 VALIDATED 1313996 NUDT21 nudix (nucleoside diphosphate linked moiety X)-type motif 21 The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008] 16 16 q12.2 55020549 55042762 - 56463048 56485261 - 1580863;6480464;6907045 21145461;8626397;11716503;14561889;15169763;12226669;11256614;18767156;18445629;17098938;16713569;16381901;16189514;16169070;15635413;15592455;15489336;15489334;15231747;14690600;12477932;11230166;11076863;11060040;9659921;17353931;20479262;16055720;20695905;17172643;21295486;21301096;22939629;21628590;21320693;21900206;21987572;21139048;21890473;21906983;22379092;22446626;22863883;19738201;21963094;22623428;23000965;23184937;22053931;22505724 11051 H3BND3;H3BV41;O43809 ABBA01025245;ABBA01025246;AC092140;AJ001810;AK312721;AL535307;AMYH01007690;BC001403;BX537360;BX647665;CH471092;CR456919;NM_007006 AAH01403;ABM83068;ABM86262;BAG35595;CAA05026;CAD97606;CAG33200;CAI46057;CAL37869;CAL38097;EAW82859;EAW82860;NP_008937;O43809 Hs.528834 1664040;1668762;1672963;1685033;1736610;2186855;5092798;5115190 A006E47;D16S2602E;G32337;RH46552;RH65245;RH69254;RH69597;SHGC-61123 CFIM25;CPSF5;DKFZp686H1588 CPSF 25 kDa subunit;OTTHUMP00000164317;cleavage and polyadenylation specific factor 5, 25 kD subunit;cleavage and polyadenylation specificity factor 25 kDa subunit;cleavage and polyadenylation specificity factor subunit 5;cleavage factor Im complex 25 kDa subunit;nucleoside diphosphate-linked moiety X motif 21;nudix motif 21;pre-mRNA cleavage factor Im (25kD);pre-mRNA cleavage factor Im 25 kDa subunit;pre-mRNA cleavage factor Im, 25kD subunit APPROVED protein-coding ENSG00000167005 13870 05400 604978 REVIEWED 1345944 NUDT9P1 nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1 10 10 10 q23.32 86658188 86659276 - 92901732 92902820 - 92911752 92912840 - 737633 12477932 18521090;15489334;16189514;19573479 119369 ABBA01021930;AL731553;AMYH01002939;BC029544;NR_002779 Hs.441287 C10orf98;MGC34007;bA56M3.1 pseudo 28523 PROVISIONAL 1351975 NUFIP1P nuclear fragile X mental retardation protein interacting protein 1 pseudogene 6 6 6 q12 64965645 64969117 - 66859854 66861532 - 66801368 66804838 - 6480464 10894927 89761 ABBA01023925;AL049842;AMYH01016397;NG_001030 pseudo 8058 INFERRED 1345366 NUDT5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 Nudix hydrolases, such as NUDT5, eliminate toxic nucleotide derivatives from the cell and regulate the levels of important signaling nucleotides and their metabolites (McLennan, 1999 [PubMed 10373642]).[supplied by OMIM, Mar 2008] 10 10 10 p14 12139104 12167676 - 12249579 12278149 - 12209573 12238143 - 1580863;6480464;6907045 10567213;10722730;18462755;15592455;15489334;12717453;12477932;11042152;10373642;16169070;19699693;20144704;23184937;22939629;20360068;21768126;22200976;21389046;21900206;21139048;21890473;21906983;22863883;22505724 11164 A6NCQ0;A6NFX8;A6NHE8;A6NJU6;C9JYY9;H0YEY4;Q9UKK9 ABBA01034667;ABBA01034668;AC073160;AF155832;AF161464;AF218818;AK291131;AK314144;AL512770;AMYH01002030;BC000025;BU602000;CH471072;CR457195;NM_014142 AAF06734;AAF25479;AAF29079;AAH00025;BAF83820;CAG33476;EAW86320;EAW86321;EAW86322;NP_054861;Q9UKK9 Hs.555956 1672206;1678359;1701008 RH104131;RH17930;SHGC-33307 YSA1;YSA1H;hYSAH1 8-oxo-dGDP phosphatase;ADP-sugar pyrophosphatase;OTTHUMP00000019112;OTTHUMP00000019113;OTTHUMP00000019114;OTTHUMP00000019116;OTTHUMP00000019117;nucleoside diphosphate linked moiety X-type motif 5;nucleoside diphosphate-linked moiety X motif 5;nudix motif 5 APPROVED protein-coding ENSG00000165609 8052 14851 609230 VALIDATED 735257 NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 q26 124033249 124063573 - 123813799 123844159 - 1580863;6480464 7984147;19416273;19054571;18401527;17681892;17569023;17203973;15489334;15247275;12477932;11801566;11266510;10022609;9406864;7999082;16712791;19913121;20628086;19423540;20406964;20438785;20800603;21139048;21890473 11162 B4DG76;E9PBZ9;H0Y9C0;P53370 AB209758;ABBA01044743;AC021205;AF019632;AF019633;AK291871;AK294450;AMYH01014494;AMYH01014495;BC009842;BG386740;CB128685;CH471056;NG_030404;NM_007083;NM_198041 AAD01635;AAD01636;AAH09842;ABM84065;ABM87422;BAD92995;BAF84560;BAG57687;EAX05217;EAX05218;EAX05219;EAX05220;EAX05221;NP_009014;NP_932158;P53370 Hs.558459 1775110;2116174;2152380;2158726;2182177;5024039 D16S325;G09429;SHGC-31504;SHGC-59517;SHGC-59784;SHGC-68235 ASFGF2;FGF-2;FGF-AS;FGF2AS;GFG1;bFGF;gfg OTTHUMP00000037514;OTTHUMP00000037515;OTTHUMP00000219776;antisense basic fibroblast growth factor;nucleoside diphosphate-linked moiety X motif 6;nudix motif 6;nudix-type motif 6 APPROVED protein-coding ENSG00000170917 8053 05880 606261 REVIEWED 1319158 NUDT8 nudix (nucleoside diphosphate linked moiety X)-type motif 8 11 11 11 q13.2 64729875 64731853 - 67151985 67153977 - 67395409 67397408 - 1580863;6480464 15489334;14702039;12477932;11415433;20877624;16712791 254552 Q8WV74 ABBA01024026;AK123561;AMYH01003747;AP003385;BC018644;CB140633;CH471076;NM_001243750;NM_181843 AAH18644;BAC85646;EAW74660;EAW74661;NP_001230679;NP_862826;Q8WV74 Hs.433329 1798244 TBX10_2578 FLJ41567 OTTHUMP00000235633;OTTHUMP00000235634;nucleoside diphosphate-linked moiety X motif 8, mitochondrial;nudix motif 8 protein-coding ENSG00000167799 8055 17652 VALIDATED 1352650 NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q22.1 85632851 85668688 + 88562759 88598523 + 88343728 88380606 + 1580863;6480464;6907045 11385575;16860484;16303743;15489334;14702039;12975309;12948489;12897971;12477932;12427752;11825615;19574167;15342556;21832049 53343 D6R8Z6;D6RAW2;H7C386;Q8NG26;Q96KB3;Q9BW91 ABBA01063535;ABBA01063536;AC112250;AF265341;AF273028;AK027295;AK074845;AK075408;AK308028;AMYH01014379;AY026252;AY359123;BC000542;BI552154;BM544951;BP277630;BQ446599;BU623625;CH471057;CQ783706;NG_030358;NM_001248011;NM_024047;NM_198038 AAH00542;AAK07671;AAM46066;AAM46068;AAQ89480;BAB55021;BAC11239;BAC11601;CAF86821;EAX05988;EAX05989;EAX05990;NP_001234940;NP_076952;NP_932155;Q9BW91 Hs.149500 2109587 NUDT9_9765 MGC3037;NUDT10 ADP-ribose diphosphatase;ADP-ribose phosphohydrolase;ADP-ribose pyrophosphatase, mitochondrial;ADP-ribose pyrosphosphatase NUDT9;ADPR-PPase;OTTHUMP00000161163;OTTHUMP00000218561;OTTHUMP00000218562;OTTHUMP00000218564;adenosine diphosphoribose pyrophosphatase;nucleoside diphosphate linked moiety X-type motif 9;nucleoside diphosphate-linked moiety X motif 9;nudix motif 9 APPROVED protein-coding ENSG00000170502 8056 09353 606022 REVIEWED 1626574 NUGGC nuclear GTPase, germinal center associated 8 8 8 p21.1 26839322 26901233 - 27935400 27997307 - 27879481 27941388 - 15592455;15221005;8889548;20877300;19734146;20379614;18029348;23247143;22833677 389643 C9JSP2;Q68CJ6 AA482187;AA768146;AB075870;ABBA01005595;ABBA01005596;AC019031;AC091573;AK129923;AMYH01018603;AMYH01018604;BU429067;CF137482;NM_001010906 AAI60159;BAC85251;BAD38652;NP_001010906;Q68CJ6 Hs.370129 1750481;1756797;1766673;1779704;5037552;5109281;5117897 D1S1425;D8S2279;GDB:631813;SHGC-111789;SHGC-143927;SHGC-149960;SHGC-153679 C8orf80;FLJ26413;HMFN0672;SLIP-GC GTPase SLIP-GC;OTTHUMP00000208983;nuclear GTPase SLIP-GC;speckled-like pattern in the germinal center APPROVED protein-coding ENSG00000189233 33550 PROVISIONAL 1347229 NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012] 13 13 13 q14 26569484 26619733 - 44411384 44461571 - 45513384 45563613 - 1580863;6480464 15107825;10556305;12941608;17081983;16344560;15489334;15057823;12477932;10894927;12837692;18029348;17636026;20201926;20360068;23362303 26747 Q9UHK0 ABBA01021226;AF159548;AK314242;AL354816;AL359706;AMYH01005084;BC001436;BC017745;CH471075;DA701559;NG_032080;NM_012345 AAF15315;AAH17745;EAX08719;NP_036477;Q9UHK0 Hs.525006 1857038;2167961;2168466 023WC1;RH68789;SGC35199 NUFIP;bA540M5.1 OTTHUMP00000018342;nuclear FMRP-interacting protein 1;nuclear fragile X mental retardation protein-interacting protein 1;nuclear fragile X mental retardation-interacting protein 1 APPROVED protein-coding ENSG00000083635 8057 05073 604354 REVIEWED 1317446 NUF2 NUF2, NDC80 kinetochore complex component This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] 1 1 q23.3 161558347 161592177 + 163291723 163325553 + 6480464 15961401;17353931;17535814;11266451;19525938;19081476;18770861;17081983;16710414;16565220;15548592;15489334;15239953;15235793;15062103;14702039;14699129;14654001;14602875;12477932;12438418;11685532;15371340;21270439;16169070;19536175;19878654;20508983;17129783;19779646;22939629;21139048;21906983;17043677;20360068;15713649;21963094;21988832;23000965;23056589;22505724 83540 B1AQT3;B1AQT4;E9PKH1;E9PP32;E9PQC4;Q9BZD4 AB050577;AB050578;ABBA01047300;AF326731;AK093348;AL592435;AMYH01001466;BC008489;BC021171;BI545465;CH471067;NM_031423;NM_145697 AAH08489;AAH21171;AAK01426;ABM84096;ABM87468;BAB59141;BAB59142;BAC04140;EAW90735;EAW90736;EAW90737;NP_113611;NP_663735;Q9BZD4 Hs.651950 1692388;2144616 AL033842;RH70126 CDCA1;CT106;NUF2R NUF2, NDC80 kinetochore complex component, homolog;OTTHUMP00000032177;OTTHUMP00000032178;OTTHUMP00000232326;OTTHUMP00000232327;cancer/testis antigen 106;cell division cycle associated 1;cell division cycle-associated protein 1;hNuf2;hNuf2R;hsNuf2;kinetochore protein Nuf2 APPROVED protein-coding ENSG00000143228 14621 10817 611772 REVIEWED 1606255 NUFIP2 nuclear fragile X mental retardation protein interacting protein 2 17 17 17 q11.2 24442372 24480641 - 24612772 24645203 - 27582854 27621166 - 6480464 21145461;19542561;22586326;12837692;16407062;17081983;16964243;15489334;15345747;15324660;15144186;14702039;12477932;10718198;8889548;18029348;19615732;23182705;17000644;19322201;18781797;21906983;21987572;15576338 57532 A1L3A6;A1L3A7;Q7Z417 AB037742;ABBA01015027;ABBA01015028;ABBA01015029;AC005412;AJ493465;AK001838;AK293075;AK297732;AMYH01008287;AMYH01008288;AY232289;BC056662;BC108307;BC129989;BC129990;BM969349;CH471159;NM_020772 AAI08308;AAI29990;AAI29991;AAP69984;BAA92559;BAF85764;BAG60082;CAD38278;EAW51186;EAW51187;NP_065823;Q7Z417 Hs.462598 1644972;1678631;1680012;1681396;1682545;1686931;1690912;1734398;2137118;5093912 D17S1373E;D17S1664;G31143;G32997;RH17557;RH39377;RH67690;RH80000;RH91719;RH98857 182-FIP;82-FIP;FIP-82;FLJ10976;KIAA1321;MGC117262;PIG1 82 kDa FMRP-interacting protein;82-kD FMRP Interacting Protein;FMRP-interacting protein 2;Fragile X Mental Retardation Protein;cell proliferation-inducing gene 1 protein;nuclear fragile X mental retardation-interacting protein 2;proliferation-inducing gene 1 protein-coding ENSG00000108256 17634 11764 609356 VALIDATED 1318746 NUMA1 nuclear mitotic apparatus protein 1 11 11 q13 71391559 71469221 - 71713911 71791573 - 1580863;6480464 16076287;15684076;15592455;15561764;15388855;15302935;14737102;12508117;12477932;11956313;11790298;10739661;10023777;9586635;9288109;8505359;8408288;8406455;7004645;12519782;11590136;12111331;12239178;10594058;10189366;11781568;10504299;12080061;11521196;10913114;15537540;1541630;1541636;14718566;19124506;18417561;18331640;17609108;17401638;17293864;17172455;17108325;17092945;17081983;16964243;16565220;16146802;21319273;22552228;14968112;17643375;18029348;19522705;19759176;20379614;20508983;7769006;8838651;20467816;20479129;19394292;19454010;19759913;21406448;21255834;15161933;19596686;20360068;21081666;21697133;22719996;23184937;23383273;21297155;19615282;21252943;21865670;21182205;22939629;22990118;21139048;21549307;21693764;21890473;21906983;22178446;22318606;22586326;22023725;21044950;21628590;22412018;23589328;23718855;22977735;16263121;19805454;21282530;22094256;22751105;23000965;23368718;22619067;22944692 4926 F5GWA2;F5GWK2;F5GZW1;F5H068;F5H073;F5H0Z7;F5H1L0;F5H2F3;F5H3L6;F5H4J1;F5H4Y4;F5H6Y5;F5H763;F5H7R5;F8W6T3;H0YFY6;K4DIE0;Q14980;Q3SYK8;Q4LE64;Q9BTE9 AB208841;AB210007;AB621824;ABBA01017542;ABBA01017543;ABBA01017544;AF012302;AF110460;AK290509;AK307577;AK309041;AMYH01003790;AMYH01003791;AP002490;BC004165;BC008345;BC013023;BC027493;BC032228;BC036808;BC043499;BC068539;BC103765;BG771637;CH471076;NM_006185;Z11583;Z11584;Z14227;Z14228;Z14229 AAC33408;AAD16994;AAH04165;AAH08345;AAH13023;AAH27493;AAH43499;AAI03766;BAD92078;BAE06089;BAF83198;BAK64159;CAA77669;CAA77670;EAW74821;EAW74822;EAW74823;EAW74824;EAW74825;EAW74826;EAW74827;EAW74828;EAW74829;EAW74830;EAW74831;NP_006176;Q14980 Hs.325978 1664365;1698648;1747617;2126167;2134900;2177186;2180499;5015961;5022322;5022651;5037552 D11S2560;D11S2921;D11S4713;D12S2124;D15S1477;D8S2279;G65532;NUMA;RH102881;RH46401;WI-16987 NUMA OTTHUMP00000236522;OTTHUMP00000236570;OTTHUMP00000236571;SP-H antigen;centrophilin stabilizes mitotic spindle in mitotic cells;nuclear mitotic apparatus protein 1;structural nuclear protein protein-coding ENSG00000137497 8059 01236 164009 VALIDATED 1316854 NUMBL numb homolog (Drosophila)-like 19 19 19 q13.13-q13.2 37972233 37996968 - 45863650 45888396 - 41171810 41196556 - 1580863;6480464;6907045 16713569;9303539;18940473;17081983;16899352;15489334;15324660;12477932;12011466;9225980;9169836;8755477;7568168;18299187;10896157;20079715;22593207;22446962;16273093;21988832;23440423 9253 M0QXQ4;M0QYC2;M0QZV7;M0R0Q4;Q9Y6R0 ABBA01040783;ABBA01040784;ABBA01040785;AC010412;AF015041;AK289398;AK299484;AMYH01009807;BC001794;BC016160;BC144583;BI552675;BT009807;CH471126;NM_004756;U80758 AAB91449;AAD01549;AAI67835;AAP88809;BAF82087;BAH13046;EAW56986;NP_004747;Q9Y6R0 Hs.326953 1681620;1745929;1778582 G34996;G64278;RH75304 CAG3A;CTG3a;NBL;NUMB-R;NUMBLIKE;NUMBR;TNRC23 numb homolog-like;numb-like protein;numb-related protein protein-coding 8061 04931 604018 VALIDATED 1348962 NUMB numb homolog (Drosophila) The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q24.3 72811671 72995039 - 73741918 73925286 - 1334451;1580863;6480464;6484113;6907045 15492044 16002321;7596406;19468255;19344753;19138666;18599481;18384513;18179751;18172499;17903303;17609107;17301032;17115028;17081983;16964243;16865239;16508311;16394100;15489334;14702039;14670962;12942088;12775724;12682059;12646252;12606711;12477932;12011466;11922143;11782429;11752454;11121447;10468633;9632782;9535908;10953014;16832352;16678796;22553175;22593191;9303539;8755477;7568168;18628966;23233047;22455121;21122105;21486681;17203073;19795205;14990566;20818436;23252402;21832049;22734830;21775625;21139048;21890473;21356309;22157679;22337874;21939656;22784712;16273093;21988832;23000965;23092984 8650 B1P2N5;B1P2N6;B1P2N7;B1P2N8;G3V3M5;G3V3R1;G3V3Z8;G3V433;G3V4S6;Q9UKE9 AA872908;ABBA01030760;ABBA01030761;ABBA01030762;ABBA01030763;ABBA01030764;AC004846;AC005280;AF015040;AF108092;AF109907;AF171938;AF171939;AF171940;AF171941;AK023670;AK055876;AK226069;AK294591;AK300602;AK304193;AK315130;AL391733;AMYH01005843;AMYH01005844;AMYH01005845;BC020788;BC033824;BC068476;BG654811;BX248073;BX248775;BX248781;BX647137;CH471061;EU265734;EU265735;EU265736;EU265737;EU265738;L40393;NG_029061;NM_001005743;NM_001005744;NM_001005745;NM_003744 AAC42000;AAC97962;AAD01548;AAD27959;AAD54279;AAD54280;AAD54281;AAD54282;AAH20788;AAH33824;AAH68476;ABY89090;ABY89091;ABY89092;ABY89093;ABY89094;ADZ16000;BAG37583;BAG57779;BAG62299;BAG65073;CAD62362;CAD66582;CAD66588;EAW81100;EAW81101;EAW81102;EAW81103;EAW81104;EAW81105;EAW81106;EAW81107;EAW81108;EAW81109;EAW81110;EAW81111;EAW81112;EAW81113;EAW81114;NP_001005743;NP_001005744;NP_001005745;NP_003735;P49757 Hs.525443;Hs.654609;Hs.714879 1643830;1646682;1646768;1646782;1647350;1649951;1651982;1652482;1663091;1664978;1666692;1667511;1669161;1687742;1715149;1736418;1738933;1740169;1769553;1772241;1774483;1849444;1850920;1851528;1855086;2108323;2112140;2116524;2119467;2120482;2122904;2123254;2130630;2132161;2133071;2136186;2139398;2145880;2147012;2147415;2148904;2152249;2154284;2155932;2157854;2164153;2164155;2164229;2165562;2166672;2166828;2173789;2180187;2183859;2184190;5014051;5015619;5016478;5037552;5109281 A002Y24;A005B48;D11S3114;D14S1363;D14S668E;D14S677E;D14S785;D14S910;D1S1425;D8S2278;D8S2279;G09798;G20251;G35561;G35586;G35619;G35656;G35775;G35969;G36028;G36073;G36075;G36158;G36161;G36193;G38062;G38064;G38065;G38067;G38126;G38127;G38135;G38139;G38152;G38157;G38167;G38177;G38185;G38193;G38195;G38196;G38201;G38204;G38206;G38207;G38208;G38213;G38221;G38222;G38228;G38267;G38322;G38336;GDB:434012;NUMB_8841;RH119825;RH44754;RH44790;RH91720;SHGC-31602 C14orf41;FLJ31314;S171;c14_5527 OTTHUMP00000246017;OTTHUMP00000246579;OTTHUMP00000246580;OTTHUMP00000246581;OTTHUMP00000246583;OTTHUMP00000246683;OTTHUMP00000246684;OTTHUMP00000246713;OTTHUMP00000246759;h-Numb;protein numb homolog APPROVED protein-coding ENSG00000133961 8060 04767 603728 REVIEWED 732596 NUP107 nucleoporin 107kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 12 12 q15 67366998 67422740 + 69080731 69136473 + 1580863;6480464 12894213;12552102;12228227;11684705;11564755;18570875;17768364;17363900;17360435;17081983;16964243;16807356;16565220;15557116;15489334;15229283;14702039;12705868;12477932;9166401;15146057;12802065;10601273;19674973;19864462;20081840;20833136;22939629;20490895;23383273;16196087;20360068;21987572;19471022;21139048;21890473;21906983;20676042;22031293;22586326;21145461;22505724;22797925 57122 B4DZ67;F5GY77;G3V1T4;H0YG15;P57740;Q6PJE1 ABBA01026552;ABBA01026553;AC090061;AC124890;AJ295745;AK002079;AK055629;AK094183;AK302773;AK315157;AMYH01004562;BC017167;BC017670;BC043343;CH471054;NM_020401 AAH17167;AAH43343;BAG51012;BAG63979;CAC03716;EAW97194;EAW97195;NP_065134;P57740 Hs.524574 1751943 SHGC-105915 NUP84 107 kDa nucleoporin;OTTHUMP00000240604;OTTHUMP00000240606;nuclear pore complex protein Nup107;nucleoporin Nup107 APPROVED protein-coding ENSG00000111581 29914 06356 607617 REVIEWED 731840 NUP153 nucleoporin 153kDa Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 6 6 p22.3 17723248 17814797 - 17615269 17706818 - 1580863;6480464 18391951;18068677;17916694;17615301;17426026;17081983;16964243;16543150;15659641;15632149;15302935;14718558;12917407;12802065;12477932;12192048;12191473;12163599;12138183;11777942;11598013;11574060;11567018;11266456;11238447;11073998;11024021;10749866;10668806;10629106;10202161;10069809;9847314;9275187;9114010;10891500;15522285;14578343;11896061;8110839;12228227;19158386;21327106;21145461;20936779;10601273;17255949;19369352;19615732;20658144;18029348;12894213;19454010;11839768;15229283;22249246;22939629;21555518;21593146;21182205;23007389;17314511;22075984;22110128;22586326;7603572;21139048;21693764;21890473;21906983;21963094;19596686;20360068;21858095;22118420;21983083;19471022;22510057;16133350;20126445;20561986;21327100;23000965;16344560;23251661;23523133;21318276;21489275;22082286;22174692;22505724 9972 F6QR24;P49790 AB210024;ABBA01022221;ABBA01022222;ABBA01022223;AI948895;AK295644;AL138724;AL138824;AL157776;AL597150;AMYH01016119;AW269393;BC052965;CB217525;CH471087;DA856239;NM_001278209;NM_001278210;NM_005124;Z25535 AAH52965;BAE06106;BAG58514;CAA80982;EAW55384;EAW55385;NP_001265138;NP_001265139;NP_005115;P49790 Hs.601591 1658517;1662941;1668118;1683940;1739089;1847443;2140835 D6S1356;D9S2018;G17061;RH66430;RH68534;RH80550;WI-19208 HNUP153;N153 153 kDa nucleoporin;OTTHUMP00000016070;nuclear pore complex protein Nup153;nuclear pore complex protein hnup153;nucleoporin 153kd;nucleoporin Nup153 APPROVED protein-coding ENSG00000124789 8062 04899 603948 REVIEWED 1317249 NUP133 nucleoporin 133kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008] 1 1 q42.13 227643667 227710711 - 229577044 229644088 - 1580863;6480464 11684705;11564755;18570875;17768364;17081983;16964243;16565220;15557116;15489334;14702039;12705868;12477932;12228227;10546895;10395558;9110174;8619474;15146057;19913121;20628086;10601273;17098863;17360435;17363900;19674973;22863883;22939629;16196087;17314511;20360068;19471022;21139048;21890473;21906983;20676042;22586326;18597806;22505724 55746 F5H5C2;Q5T8N1;Q5TDI3;Q8WUM0 ABBA01009822;ABBA01009823;AF052123;AK001676;AK001754;AK022572;AK092339;AK304061;AK304861;AK314431;AL121990;AL139252;AL160004;AMYH01001810;BC020107;CH471098;NG_011969;NM_018230 AAH20107;ABM85194;ABW03687;BAA91829;BAA91885;BAB14106;BAG37045;BAG64968;BAG65599;EAW69899;EAW69900;NP_060700;Q8WUM0 Hs.12457 1657338;1657742;1657744;1664409;1767070;1769264;1858224;2133412;2217680 AL009816;NUP133_3652;RH11940;RH12639;SHGC-35003;UniSTS:23130;WI-10134;WI-11389;WI-15719 FLJ10814;MGC21133;hNUP133 133 kDa nucleoporin;OTTHUMP00000037467;OTTHUMP00000037468;nuclear pore complex protein Nup133;nucleoporin Nup133 APPROVED protein-coding ENSG00000069248 18016 06354 607613 REVIEWED 1344758 NUP210L nucleoporin 210kDa-like 1 1 1 q21.3 127036912 127199334 - 152231790 152394216 - 153965166 154127592 - 6480464 16710414;14702039 91181 E7EP56;Q5VU65;Q9UF31 ABBA01049461;ABBA01049462;ABBA01049463;ABBA01049464;ABBA01049465;ABBA01049466;ABBA01049467;ABBA01049468;ABBA01049469;ABBA01049470;ABBA01049471;ABBA01049472;ABBA01049473;ABBA01049474;ABBA01049475;AK125924;AK128000;AK128108;AL133633;AL358472;AL513546;AL590431;AL833964;AMYH01001409;AMYH01001410;AMYH01001411;BX648132;CH471121;HC007184;HC044631;NM_001159484;NM_207308 BAC86345;BAC87225;BAC87279;CAB63757;CAD38812;CBH19397;CBH30645;EAW53238;NP_001152956;NP_997191;Q5VU65 Hs.67639 1338358;1656001;1712759;1848183;2138890;2146834 AL009742;D1S2858;D1S3396;RH120093;RH47702;RH47717 RP11-144B19.1 OTTHUMP00000034015;nuclear pore membrane glycoprotein 210-like;nuclear pore membrane glycoprotein 210-like (LOC91181);nucleoporin Nup210-like protein-coding ENSG00000143552 29915 14852 VALIDATED 5489016 NUP210P2 nucleoporin 210kDa pseudogene 2 3 3 p25.2 11868666 11907669 + 11941485 11942719 + 100129929 ABBA01025211;AC090958;AMYH01012980;NG_022238 1757761 SHGC-146471 pseudo 42707 INFERRED 5488963 NUP210P3 nucleoporin 210kDa pseudogene 3 3 129041881 129042819 - 100419070 ABBA01020935;AC137695;AMYH01013476;NG_025625 pseudo 42712 INFERRED 1348104 NUP188 nucleoporin 188kDa The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013] 9 9 9 q34.11 102361838 102421686 + 130749798 130809195 + 131709977 131769374 + 6480464 12477932;17353931;17567994;15146197;11029043;8724849;19596235;19615732;22939629;22863883;22990118;19596686;20360068;21987572;21139048;21890473;21906983;22586326;10668806;22505724 23511 Q5SRE5 AA731883;ABBA01043908;ABBA01043909;ABBA01043910;ABBA01043911;ABBA01043912;ABBA01043913;AK025292;AL592211;AL672142;AMYH01021754;BC005407;BC040352;BC111045;BX537774;CH471090;CN297641;D79991;DQ656057;HY094051;NG_033111;NM_015354 AAH05407;AAH40352;AAI11046;AAI60096;BAA11486;CAD97835;EAW87850;EAW87851;EAW87852;EAW87853;NP_056169;Q5SRE5 Hs.308340 1334588;1662554;1675563;1773962;1799234;1799672;1799884;1801216;1806850;1809280;1810292;1811046;1811274;1811408;1811652;1813358;1813424;1813572;1813634;1815992;1818188;1818534;1819686;1820248;1821998;1825166;1825308;1825946;1829800;1829860;1829968;1831022;1832436;1832438;1835712;1835764;1836552;1844546;1845992;1855883;1931476;1931478;1931480;1931482;1931484;1931486;1931488;1931490;1931492;1931494;1931496;1931498;1931500;1931502;1931504;1931506;1931508;1931510;1931512;1931514;1931516;1931518;1931520;1931522;1931524;1931526;1931528;1931530;1931532;1931534;1931536;1931538;1931540;1931542;1931544;1931546;1931548;1931550;1931552;1931554;1931556;1931558;1931560;1931562;1931564;1931566;1931568;1931570;1931572;1931574;1931576;1931578;1931580;1931582;1931584;1931586;1931588;1931590;1931592;1931594;1931596;1931598;1931600;1931602;1931604;1931606;1931608;1931610;1931612;1931614;1931616;1931618;1931620;1931622;1931624;1931626;1931628;1931630;1931632;1931634;1931636;1931638;1931640;1931642;1931644;1931646;1931648;1931650;1931652;1931654;1931656;1931658;1931660;1931662;1931664;1931666;1931668;1931670;1931672;1931674;1931676;1931678;1931680;1931682;1931684;1931686;1931688;1931690;1931692;1931694;1931696;1931698;1931700;1931702;1931704;1931706;1931708;1931710;1931712;1931714;1931716;1931718;1931720;1931722;1931724;1931726;1931728;1931730;1931732;1931734;1931736;1931738;1931740;1931742;1931744;1931746;1931748;1931750;1931752;1931754;1931756;1931758;1931760;1931762;1931764;1931766;1931768;1931770;1931772;1931774;1931776;1931778;1931780;1931782;1931784;1931786;1931788;1931790;1931792;1931794;1931796;1931798;1931800;1931802;1931804;1931806;1931808;1931810;1931812;1931814;1931816;1931818;1931820;1931822;1931824;1931826;1931828;1931830;1931832;1931834;1931836;1931838;1931840;1931842;1931844;1931846;1931848;2110609;2125707;2156740;2208080;2208082;2208084;2208086;2208088;2208090;2208092;2208094;2208096;2208098;2208100;2208102;2208104;2208106;2208108;2208110;2208112;2208114;2208116;2208118;2208120;2208122;2208124;2208126;2208128;2208130;2208132;2208134;2208136;2208138;2208140;2208142;2208144;2208146;2208148;5022578;7185603 D1S1423;D9S260;ECD00465;ECD00690;ECD00796;ECD01480;ECD04390;ECD05630;ECD06138;ECD06521;ECD06635;ECD06702;ECD06829;ECD07700;ECD07733;ECD07809;ECD07840;ECD09036;ECD10151;ECD10329;ECD10910;ECD11198;ECD12085;ECD13684;ECD13760;ECD14082;ECD16033;ECD16063;ECD16117;ECD16647;ECD17357;ECD17358;ECD19013;ECD19043;ECD19440;ECD23487;ECD24216;NUP188_9358;REN36567;REN36568;REN36569;REN36570;REN36571;REN36572;REN36573;REN36574;REN36575;REN36576;REN36577;REN36578;REN36579;REN36580;REN36581;REN36582;REN36583;REN36584;REN36585;REN36586;REN36587;REN36588;REN36589;REN36590;REN36591;REN36592;REN36593;REN36594;REN36595;REN36596;REN36597;REN36598;REN36599;REN36600;REN36601;REN36602;REN36603;REN36604;REN36605;REN36606;REN36607;REN36608;REN36609;REN36610;REN36611;REN36612;REN36613;REN36614;REN36615;REN36616;REN36617;REN36618;REN36619;REN36620;REN36621;REN36622;REN36623;REN36624;REN36625;REN36626;REN36627;REN36628;REN36629;REN36630;REN36631;REN36632;REN36633;REN36634;REN36635;REN36636;REN36637;REN36638;REN36639;REN36640;REN36641;REN36642;REN36643;REN36644;REN36645;REN36646;REN36647;REN36648;REN36649;REN36650;REN36651;REN36652;REN36653;REN36654;REN36655;REN36656;REN36657;REN36658;REN36659;REN36660;REN36661;REN36662;REN36663;REN36664;REN36665;REN36666;REN36667;REN36668;REN36669;REN36670;REN36671;REN36672;REN36673;REN36674;REN36675;REN36676;REN36677;REN36678;REN36679;REN36680;REN36681;REN36682;REN36683;REN36684;REN36685;REN36686;REN36687;REN36688;REN36689;REN36690;REN36691;REN36692;REN36693;REN36694;REN36695;REN36696;REN36697;REN36698;REN36699;REN36700;REN36701;REN36702;REN36703;REN36704;REN36705;REN36706;REN36707;REN36708;REN36709;REN36710;REN36711;REN36712;REN36713;REN36714;REN36715;REN36716;REN36717;REN36718;REN36719;REN36720;REN36721;REN36722;REN36723;REN36724;REN36725;REN36726;REN36727;REN36728;REN36729;REN36730;REN36731;REN36732;REN36733;REN36734;REN36735;REN36736;REN36737;REN36738;REN36739;REN36740;REN36741;REN36742;REN36743;REN36744;REN36745;REN36746;REN36747;REN36748;REN36749;REN36750;REN36751;REN36752;REN36753;RH25386;RH35819;RH98324;SHGC-33284;STS-H17411;WI-21818;stSG628088;stSG628089;stSG628090;stSG628091;stSG628094;stSG628095;stSG628096;stSG628097;stSG628098;stSG628099;stSG628101;stSG628102;stSG628103;stSG628105;stSG628106;stSG628107;stSG628108;stSG628109;stSG628110;stSG628111;stSG628112;stSG628113;stSG628114;stSG628115;stSG628116;stSG628117;stSG628118;stSG628119;stSG628120;stSG628121;stSG628122;stSG628123;stSG628124;stSG628125;stSG628126 FLJ21639;KIAA0169;hNup188 OTTHUMP00000022317;hNup188;nucleoporin NUP188 homolog protein-coding ENSG00000095319 17859 18582 REVIEWED 1322303 NUP160 nucleoporin 160kDa NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004] 11 11 11 p11.2 47947516 48018167 - 47756246 47826633 - 47799670 47870057 - 1580863;6480464 11684705;12477932;21145461;15231747;17353931;11564755;17363900;17360435;17081983;16807356;16565220;15489334;15146197;14702039;12228227;8724849;15146057;10601273;17098863;19576787;19615732;19864462;20081840;20974814;22863883;22955883;17043677;18781797;20360068;21987572;21139048;21890473;21906983;20676042;22031293;22586326;22505724;22797925 23279 E9PQY5;E9PR16;E9PSI3;G3V198;Q12769 ABBA01060691;AC021443;AC023232;AK026236;AK302396;AK304308;AL832029;AL832813;AMYH01003551;AMYH01003552;BC008700;BC009822;BC125227;BC125228;BX647634;CH471064;D83781;NM_015231 AAH08700;AAH09822;AAI25228;AAI25229;BAA12110;BAB15406;BAG63710;BAG65161;EAW67878;EAW67879;EAW67880;EAW67881;EAW67882;EAW67883;NP_056046;Q12769 Hs.744107 1677540;1677562;1686264;1723641;2107449;2130280 NUP160_3793;RH118738;RH25410;RH71446;RH91838;STS-Z40067 DKFZp686M14102;MGC150678;MGC150679 160 kDa nucleoporin;OTTHUMP00000233271;OTTHUMP00000233272;OTTHUMP00000234368;nuclear pore complex protein Nup160;nucleoporin Nup160 APPROVED protein-coding ENSG00000030066 18017 16254 607614 VALIDATED 734441 NUP155 nucleoporin 155kDa Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013] 5 5 5 p13.1 37178878 37258122 - 37327698 37406954 - 37291941 37371197 - 1580863;6480464 10191094;19070573;15703211;15489334;15231748;14702039;14645504;12477932;12228227;12034489;9872452;8599106;21145461;10601273;19615732;20562859;20974814;21464227;22863883;16344560;22939629;19738201;21924735;21963094;22323290;23000965;23152829;21628590;18781797;20360068;21987572;19471022;21139048;21693764;21890473;21906983;21252943;22586326;20227665;21994675;22053931;22505724;22797925 9631 D6RA13;E9PF10;O75694 AB018334;ABBA01024179;ABBA01024180;ABBA01024181;ABBA01024182;ABBA01024183;ABBA01024184;AC008832;AC025449;AC117532;AF165926;AI037962;AJ007558;AK002103;AK297143;AK315028;AL117585;AMYH01015031;BC039257;BM478072;BQ435836;BQ937467;BU601425;CH471119;DA249538;DC401967;NM_001278312;NM_004298;NM_153485 AAD52966;AAH39257;BAA34511;BAG51015;BAG59644;CAA07553;CAB56007;EAW55957;EAW55958;EAW55959;NP_001265241;NP_004289;NP_705618;O75694 Hs.547696 1334712;1785302;2181626;5491565 D5S1903;D5S2023;MARC_21512-21513:1032982746:3;SHGC-110804 KIAA0791;N155 155 kDa nucleoporin;OTTHUMP00000116013;OTTHUMP00000221170;OTTHUMP00000221171;nuclear pore complex protein Nup155;nucleoporin Nup155 APPROVED protein-coding ENSG00000113569 8063 05984 606694 REVIEWED 1319746 NUP205 nucleoporin 205kDa 7 7 7 q33 129980097 130070963 + 134893228 134984037 + 135242662 135333501 + 1580863;6480464 21252943;9348540;16344560;15703211;15489334;12477932;12228227;9039502;12802065;17353931;21145461;21623375;19615732;10601273;19454010;20562859;22863883;15229283;22939629;16196087;19596686;20639865;21987572;21139048;21890473;21906983;20547757;22446626;22586326;10668806;22505724;19738201;21963094;21988832;22053931;22623428;23000965;23222517;23383273 23165 E7ET25;F2Z2D0;Q92621 AACC02000025;ABBA01001122;ABBA01001123;AC093107;AK293497;AK297307;AMYH01017959;BC044255;BC063612;BC073947;BC094868;BC136624;BC146784;CH236950;CH471070;D86978;DA111772;NM_015135 AAH44255;AAH63612;AAH73947;AAH94868;AAI36625;AAI46785;BAA13214;BAG56983;BAG59773;EAW83855;EAW83856;NP_055950;Q92621 Hs.743250 2128315;2131033 RH11027;RH25431 C7orf14 205 kDa nucleoporin;OTTHUMP00000208108;nuclear pore complex protein Nup205;nucleoporin Nup205 protein-coding ENSG00000155561 18658 17653 614352 VALIDATED 4108511 NUP210P1 nucleoporin 210kDa pseudogene 1 3 3 3 q21.3 124805216 124815074 + 127863610 127873482 + 126380924 126390782 + 12477932;15489334 255330 ABBA01016385;AC078867;AMYH01013450;BC042038;NR_034158 AAH42038 Hs.145435 1784824 SHGC-155383 C3orf46 APPROVED pseudo ENSG00000198284 27399 VALIDATED 1353030 NUP50P1 nucleoporin 50 pseudogene 1 14 14 14 q23.3 45121342 45126400 - 64136476 64138381 - 65063610 65068669 - 145375 ABBA01018365;AL049869;AMYH01005799;NG_002384 1682397 RH26205 NUP50P pseudo 20025 INFERRED 1606410 NUP50P2 nucleoporin 50 pseudogene 2 6 6 6 p22 26367374 26369069 + 25247950 25249845 + 25140072 25141767 + 266785 ABBA01066542;AL133268;AMYH01016158;NG_002388 pseudo 29928 INFERRED 2799973 NUP50P3 nucleoporin 50 pseudogene 3 5 5 5 p14 20963874 20967495 - 20339680 20341579 - 20302313 20305934 - 266786 ABBA01054544;AC094103;AMYH01014954;NG_002389 pseudo 29927 INFERRED 1316779 NUP214 nucleoporin 214kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. [provided by RefSeq, Jul 2008] 9 9 q34.1 132990802 133098912 + 134000981 134109091 + 1580863;6480464;6484113;7240710 21489623;11545741;8108440;12191473;12228227;19386703;19229862;19219046;18923437;18784740;18299449;17620317;17296573;17264208;17081983;16943420;16675447;16045929;15361874;15302935;14766228;14671643;12917407;12589057;12477932;12138183;11777942;11551912;11238447;11073998;10668806;10428971;10395558;9847314;9765402;9488438;9166401;9144189;9114010;7774911;7584028;7584026;2370860;1549122;9368759;11425870;9049309;8943370;10601273;16356933;18096310;18614052;19166587;19615732;19828735;20237496;20379614;21145461;20936779;20970119;15239126;22939629;17289590;21691751;21139048;18624398;19596686;20360068;21720744;20963938;22558357;22586326;7603572;16344560;22412018;23667531;10228171;22623428;23264634;19149559;21327100 8021 B7ZAV2;E9PKD2;E9PS86;H0Y837;H0YDH2;H0YDI2;H0YDS4;H0YED3;H0YF36;P35658 AA516455;AB159230;ABBA01012079;ABBA01012080;ABBA01012081;ABBA01012082;AJ420413;AK302676;AK307573;AK310406;AK310476;AK310515;AK316417;AK316435;AL157938;AL832609;AMYH01021777;AMYH01021778;BC012500;BC045620;BC105998;BM455135;BX537986;CH471090;D14689;DB062584;NG_023371;NM_005085;X64228 AAH45620;AAI05999;BAA03515;BAD07398;BAG63908;BAH14788;BAH14806;CAA45535;CAD97946;EAW87960;EAW87961;EAW87962;EAW87963;NP_005076;P35658 Hs.654530 1643725;1657837;1721801;2118076;2172604;5094372 G54640;G59922;RH25261;RH65743;RH68080;RH69984 CAIN;CAN;D9S46E;MGC104525;N214;p250 214 kDa nucleoporin;CAN protein, putative oncogene;OTTHUMP00000022382;OTTHUMP00000022384;OTTHUMP00000229693;nuclear pore complex protein Nup214;nucleoporin 214kD (CAIN);nucleoporin Nup214;p250 APPROVED protein-coding ENSG00000126883 8064 00258 114350;601626 REVIEWED 1346505 NUP210 nucleoporin 210kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013] 3 3 p25.1 13332737 13436809 - 13357737 13461809 - 1580863;6480464 15231747;16702234;16641997;16565220;16337775;16303743;15710222;15613247;15489334;14702039;14517331;12653556;12477932;12228227;11782456;10546895;10469352;10048485;8672508;8125298;7504063;2195063;2184032;10601273;19851296;20198315;20379614;23097496;22939629;21252943;22108332;21139048;21890473;21906983;22586326;19738201;21963094;22623428;22268729;22505724 23225 Q8TEM1 AA909765;AB020713;ABBA01025174;ABBA01025175;ABBA01025176;AC027124;AC069246;AK026042;AK074101;AK075545;AK225409;AL117527;AMYH01012994;BC020573;BC067089;BC068109;BM508095;CH471055;HY177936;NM_024923 AAH67089;BAA74929;BAB15332;BAB84927;BAC11688;CAB55979;EAW64150;EAW64151;EAW64152;EAW64153;EAW64154;NP_079199;Q8TEM1 Hs.475525 1646148;1648944;2133922;2158630;2218576 Cda14e10;D3S3948;G09947;NUP210__3790;RH12715 FLJ22389;GP210;KIAA0906;POM210 OTTHUMP00000208000;nuclear envelope pore membrane protein POM 210;nuclear pore membrane glycoprotein 210;nuclear pore protein gp210;nucleoporin Nup210;pore membrane protein of 210 kDa APPROVED protein-coding ENSG00000132182 30052 06368 607703 REVIEWED 1353367 NUP35 nucleoporin 35kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is part of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. [provided by RefSeq, Jul 2008] 2 2 2 q32.1 177585188 177622496 + 183697328 183734653 + 183989083 184026408 + 1580863;6480464 17081983;16964243;16600873;15815621;15703211;15489334;12477932;12228227;12196509;18256286;20200978;17207965;18029348;10601273;22939629;21139048;21906983 129401 B4DP57;B4DYB4;C9IYQ7;C9JIY9;C9JWU7;F8WCF5;F8WEL4;Q8NFH5 ABBA01062311;AC064871;AC079249;AF411516;AF514993;AK289601;AK290760;AK298199;AK302350;AMYH01011320;BC022333;BC035597;BC047029;BC061698;BC111016;BI821231;CH471058;NM_138285 AAH47029;AAH61698;AAL86379;AAM76704;AAX88896;AAY24198;ADQ33128;BAF82290;BAF83449;BAG60469;BAG63676;EAX10948;NP_612142;Q8NFH5 Hs.180591 1657778;1685049;2176651;5037552;5118885 D11S3752;D2S2502;D8S2279;RH25234;STS-Z40051 MP44;NP44;NUP53 35 kDa nucleoporin;MP-44;OTTHUMP00000163458;OTTHUMP00000205369;mitotic phosphoprotein 44;nuclear pore complex protein Nup53;nucleoporin NUP53;nucleoporin Nup35 APPROVED protein-coding ENSG00000163002 29797 10486 608140 REVIEWED 1317159 NUP37 nucleoporin 37kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP37 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008] 12 12 12 q23.2 102131991 102176381 - 100992100 101036491 - 102467970 102512361 - 1580863;6480464 15761153;15489334;15146057;14702039;12477932;12228227;12196509;22889411;10601273;17360435;17363900;19893584;22863883;22939629;22955883;16196087;20676042;20360068;21139048;21890473;21906983;22505724 79023 F8VTY2;F8VXF5;H0YHK8;Q8NFH4 ABBA01053231;ABBA01053232;AC079907;AF514994;AK026271;AK296733;AK310619;AMYH01004704;BC000861;CH471054;NM_024057 AAH00861;AAM76705;BAB15422;BAG59320;EAW97688;EAW97689;NP_076962;Q8NFH4 Hs.444276 FLJ22618;MGC5585;p37 OTTHUMP00000243905;OTTHUMP00000243907;nucleoporin Nup37;nup107-160 subcomplex subunit Nup37 APPROVED protein-coding ENSG00000075188 29929 14853 609264 PROVISIONAL 1605529 NUP43 nucleoporin 43kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008] 6 6 6 q25.1 150780717 150802949 - 150087150 150109381 - 150045457 150067688 - 6480464 16009940;17079684;16381901;15489336;15489334;15146057;14702039;12477932;12228227;12196509;11230166;11076863;10601273;17360435;17363900;22863883;22939629;16196087;18781797;20360068;21139048;21890473;21906983;20676042;22505724;22797925 348995 B4DVD1;B4E2F0;B4E301;F5H0E3;Q5VYB5;Q8NFH3;Q8TEA6 ABBA01025674;AF514997;AJ334828;AK023349;AK074311;AK095994;AK301027;AK304244;AK304505;AL355312;AMYH01016738;BC040121;BC046637;BC047539;BC065028;BG527619;BG567254;BX647097;CB989591;NM_198887 AAH40121;AAH65028;AAM76708;BAB14536;BAB85046;BAG53192;BAG62643;BAG65112;BAG65313;CAL37556;NP_942590;Q8NFH3 Hs.510375 1697876;2108325;2145100;2177256;5016478;5019833;5037552 A009Z40;D8S2279;G17314;G33028;GDB:434012;NUP43_8182;RH102466 FLJ13287;bA350J20.1;p42 OTTHUMP00000237248;OTTHUMP00000237249;nucleoporin Nup43;nup107-160 subcomplex subunit Nup43 APPROVED protein-coding ENSG00000120253 21182 12174 608141 VALIDATED 736309 NUP50 nucleoporin 50kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.31 43938390 43962556 + 45559726 45583892 + 1580863;6480464 10449902;12228227;17081983;16964243;15489334;15461802;14702039;12477932;12361592;12176322;10891500;10891499;10591208;11447110;21145461;20016008;10601273;16648475;19596235;20379614;12802065;21832049;22939629;22863883;23007389;20360068;22130666;21628590;21139048;21890473;21906983;22505724 10762 B0QY21;B1AHA5;B4E2D3;F2Z3L9;Q9UKX7 ABBA01007128;ABBA01007129;AF107840;AF116624;AF267865;AK095860;AK304223;AK314454;AL008718;AL050007;AL389949;AL389950;AL389951;AL704529;AMYH01012846;BC016055;BC020260;BC028125;BC039468;BC070133;BI461522;CH471138;CR456533;NM_007172;NM_153645;Z82243 AAD53401;AAF71047;AAG44734;AAH16055;AAH28125;AAH70133;ACE87793;ACT64427;BAG37062;BAG65095;CAB97527;CAB97528;CAB97529;CAG30419;CAK54564;CAK54863;EAW73370;EAW73372;EAW73373;NP_009103;NP_705931;Q9UKX7 Hs.475103 1682397;1858233;2138055;5037552;5094626 AL008660;D12S2114;D8S2279;PMC166143P11;RH26205 MGC39961;NPAP60;NPAP60L 50 kDa nucleoporin;OTTHUMP00000199529;OTTHUMP00000199530;OTTHUMP00000199531;OTTHUMP00000199539;nuclear pore complex protein Nup50;nuclear pore-associated protein 60 kDa-like;nuclear pore-associated protein 60L;nucleoporin Nup50 APPROVED protein-coding ENSG00000093000 8065 05226 604646 REVIEWED 732578 NUP54 nucleoporin 54kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013] 4 4 4 q21.1 74336017 74369792 - 77254841 77288679 - 77035817 77069655 - 633404;6480464 8707840 16189514;15489334;14702039;12477932;12228227;10931946;10546895;10395558;9582382;8589458;8125298;7531196;2050741;22318606;20936779;10601273;11266456;16651408;22939629;17623298;21987572;21139048;21890473;21906983;21963094;16344560;23000965;19275582;19458171;20012529;21489275 53371 B4DT35;D6RAH0;D6RB65;D6RBF7;D6RFI8;E7EUM5;Q7Z3B4 ABBA01063355;ABBA01063356;ABBA01063357;AC110795;AC112719;AF157322;AI580839;AK001517;AK022106;AK222752;AK223352;AK299442;AK300036;AK307571;AK315160;AL137650;AMYH01014310;AMYH01014311;BC012559;BC034226;BP420577;BX538002;CH471057;DA577078;NM_001278603;NM_017426;NR_103780;NR_103781;NR_103782 AAF67488;AAI56686;ABM86904;ABW03846;BAA91735;BAD96472;BAD97072;BAG37604;BAG61417;BAG61847;CAB70859;CAD97957;EAX05775;EAX05776;EAX05777;NP_001265532;NP_059122;Q7Z3B4 Hs.430435 1684948;1695898;1700496;1712278;2129109;2217682;5022578 D1S1423;G54048;NUP54_3830;R71204;RH103869;RH93766;SHGC-78854 MGC13407 54 kDa nucleoporin;OTTHUMP00000160589;OTTHUMP00000219174;nucleoporin p54 APPROVED protein-coding ENSG00000138750 17359 06352 607607 REVIEWED 1323659 NUP85 nucleoporin 85kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP85 is part of one such subcomplex, Nup107-160. [provided by RefSeq, Jul 2008] 17 17 q25.1 70713192 70743449 + 73201597 73231854 + 6480464 17395051;15995708;15146057;14702039;12477932;12228227;12196509;14767062;16169070;10893222;7592789;12706117;20676042;10601273;19454010;10753751;17360435;17363900;19576787;19615732;19841162;22863883;20360068;21139048;21890473;21906983;21987572;22505724 79902 B4DMQ3;B4DPW1;F5H0W7;J3KRC0;J3KS87;J3KSH3;J3KT10;J3KTC7;J3QL49;J3QL54;J3QL91;J3QLD4;J3QLH0;J3QLV0;J3QRY3;J3QS63;Q9BW27 ABBA01028809;AC022211;AF498261;AF514995;AK022611;AK124501;AK295694;AK297574;AK298519;AK302426;AL833893;AMYH01008632;BC000697;CH471099;NM_024844 AAH00697;AAM18528;AAM76706;BAB14130;BAG54043;BAG59965;BAG60723;BAG63729;BAH12158;CAD38749;EAW89251;NP_079120;Q9BW27 Hs.362817 1336870;2122635 Cda0wb11;D17S650 FLJ12549;Nup75 85 kDa nucleoporin;frount;nuclear pore complex protein Nup85;nucleoporin Nup75;nucleoporin Nup85;pericentrin 1;pericentrin-1 APPROVED protein-coding ENSG00000125450 8734 01363 170285 REVIEWED 6769469 NUPL1P1 nucleoporin like 1 pseudogene 1 4 q28.1 126602663 126603598 - 100289295 ABBA01044779;AC093589;AMYH01014505;NG_022035 pseudo 44052 INFERRED 1606555 NUP62CL nucleoporin 62kDa C-terminal like This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] X X X q22.3 106837965 106921027 - 106253358 106336200 - 106366657 106449670 - 6480464 10737800;18029348;16189514;15772651;15489334;14702039;12477932;21832049;20360068;21906983;19322201 54830 H0Y6X7;Q5JSN5;Q9H1M0 ABBA01035861;ABBA01035862;ABBA01035863;ABBA01035864;ABBA01035865;ABBA01035866;ABBA01035867;ABBA01035868;ABBA01035869;ABBA01035870;ABBA01035871;AI702317;AK000137;AL136112;AL390039;AMYH01022827;BC016327;BC017799;BF805909;BX105515;CH471120;DB448067;NG_021315;NM_017681;NR_033676 AAH16327;AAH17799;BAA90968;EAX02718;EAX02719;EAX02720;EAX02721;NP_060151;Q9H1M0 Hs.163629 1694132;1701936;1780480;1856686;2160960 AL035123;DXS1504;DXS6972E;L77251;stbA92F23T7 FLJ20130;RP13-383K5.2 OTTHUMP00000023799;OTTHUMP00000023801;nucleoporin-62 C-terminal-like protein APPROVED protein-coding ENSG00000198088 25960 06527 REVIEWED 6770124 NUPR1L nuclear protein, transcriptional regulator, 1-like 7 p11.2 56182374 56184090 - 6480464 389493 A6NF83 ABBA01061853;ABBA01061854;AC006970;AMYH01017279;AMYH01017280;BC043523;NM_001145712 A6NF83;NP_001139184 Hs.177948 1676580 RH92024 nuclear transcriptional regulator 1-like protein;uncharacterized protein LOC389493 protein-coding ENSG00000185290 44164 VALIDATED 1349933 NUP62 nucleoporin 62kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008] 19 19 q13.33 55101894 55124598 - 50410082 50432988 - 1580863;6480464;7240710 8650207;11852044;8589458;7744965;10356400;11244088;11755531;15953362;16648475;15625236;10373430;8702753;10799545;11013214;18029348;1915414;18809582;19144712;17960595;16786527;16730000;16381901;16189514;15522285;15507209;15489336;15489334;14718703;14702039;14667819;12477932;12228227;12163599;11553620;11310559;11266456;11256614;11238447;11230166;11113176;11076863;11073998;10781837;10668806;10395558;10330396;9367915;9114010;9102465;8757804;8707840;8537436;8125298;11425870;16169070;21145461;20622012;10601273;15175862;15820316;17098863;19615732;19828735;16344560;8889548;12894213;16434389;21698267;22939629;20360068;21078624;21139048;21726808;21890473;21906983;22308026;22110128;21628590;22558357;22334672;21988832;23383273;22505724;22928108 23636 M0QX10;M0QX13;M0QX41;M0QX64;M0QXN5;M0QYY0;M0QZL5;M0R0B7;M0R1S1;M0R302;P37198 ABBA01032907;ABBA01032908;AC011452;AF318357;AK000829;AK125857;AK225817;AL162061;AMYH01009919;BC003663;BC014842;BC050717;BC095410;BC101104;BC101105;BC101106;BC101107;BG575286;BM672281;CB961185;CH471177;CR541721;DA438104;DA856902;DA945913;DA949331;DB076767;NG_021170;NG_023448;NM_001193357;NM_012346;NM_016553;NM_153718;NM_153719;X58521 AAH03663;AAH14842;AAH50717;AAH95410;AAI01105;AAI01106;AAI01107;AAI01108;AAL55864;ABM83517;ABM87856;BAG54257;CAA41411;CAB82399;CAG46522;CAL38660;EAW52576;EAW52577;EAW52578;EAW52579;NP_001180286;NP_036478;NP_057637;NP_714940;NP_714941;P37198 Hs.574492 1338109;1339316;1339420;1645620;1681217;1776983;1792386;1792388;2145185;5014051;5015619;5015961;5017663;5022576;5022651;5037552 D11S2921;D11S3114;D15S1477;D19S412;D19S596;D19S867;D19S998;D1S1361;D8S2278;D8S2279;NUP62;PMC150528P1;PMC150528P2;RH46521;RH71288;RH79668 DKFZp547L134;FLJ20822;FLJ43869;IBSN;MGC841;SNDI;p62 62 kDa nucleoporin;nuclear pore glycoprotein p62;nucleoporin Nup62 APPROVED protein-coding ENSG00000213024 8066 05782 271930;605815 REVIEWED 733611 NUP88 nucleoporin 88kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. [provided by RefSeq, Jul 2008] 17 17 p13.2 5230144 5263720 - 5289346 5323059 - 1580863;6480464 9049309;12228227;18068677;17081983;17007055;16964243;16675447;15489334;15300515;14999780;12589057;12477932;12094380;11248054;11073820;10967423;10554006;10395558;9488438;9205132;8125298;21145461;18029348;20973273;17828493;20497554;10601273;16169070;17650673;18606815;19615732;19700630;19751906;15239126;19454010;22863883;22939629;21896994;20360068;21289091;18781797;21139048;21906983;21987572;22586326;22480613;21628590;10668806;22053931;21863385;21963094;23000965 4927 I3L245;I3L2W3;I3L4K7;J3KMX1;Q99567 ABBA01054812;ABBA01054813;ABBA01054814;AC004148;AK225247;AK298158;AK299000;AK308142;AMYH01008050;AMYH01008051;BC000335;BF594453;BI552947;BX956129;CH471108;NM_002532;Y08612 AAH00335;BAG60432;BAH12922;CAA69904;EAW90340;EAW90341;EAW90342;NP_002523;Q99567 Hs.584784 1663548;1694426;1720955;1733660;2114160;2158818 D15S629E;G42908;G59307;SHGC-33286;WI-12233;WI-18700 MGC8530 88 kDa nucleoporin;OTTHUMP00000125305;karyoporin;nuclear pore complex protein 88;nuclear pore complex protein Nup88;nucleoporin Nup88 APPROVED protein-coding ENSG00000108559 8067 03974 602552 REVIEWED 3340337 NUS1P1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 1 X X X p11.23 51564457 51568319 - 47254120 47257997 - 47369194 47373059 - 729148 ABBA01052371;ABBA01052372;AMYH01022262;AMYH01022263;CH471164;NG_023027;Z84466 EAW59309 pseudo 38472 INFERRED 3077881 NUS1P2 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2 13 13 13 q12.12 4551926 4553811 + 22387790 22389285 + 23489600 23491485 + 646208 ABBA01068629;ABBA01068630;AL157931;AMYH01004966;NG_008458 pseudo 38473 INFERRED 3466382 NUS1P3 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3 13 13 13 q12 5964516 5968929 + 23800348 23801372 + 24901846 24906246 + 6480464 9294218 11049 ABBA01007889;AL359736;AMYH01004973;NG_006509;U82319 AAB72234 Hs.525826 YDD19 pseudo 30934 INFERRED 3102882 NUS1P4 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4 13 13 13 q32.2 80106568 80107158 - 98060541 98061122 - 99262555 99263145 - 100130167 ABBA01027137;AL356423;AMYH01005322;NG_021964 pseudo 38474 INFERRED 736958 NUPR1 nuclear protein, transcriptional regulator, 1 16 16 p11.2 28456163 28457996 - 28548662 28550495 - 6480464 10092851;18690848;17116693;17101797;17016631;16628001;16478804;16300740;16294328;16101158;15854263;15781258;15489334;15342556;12477932;12174869;11940591;10493829;10493524;9405444;20181828;19153668;19650074;19915574;19946894;20335521;20890585;19723804;22821859;21344397;22493353;22565310;19942374;23047430;21988832;22899799;22961798;23128233;22938721;22858377 26471 H3BS92;O60356 ABBA01043648;AC002425;AC020765;AF069073;AF069074;AF135266;AK312135;AMYH01007435;BC002434;BF965595;BP214401;BT006896;CH471279;CR542144;NM_001042483;NM_012385 AAC05335;AAC05336;AAC19384;AAC19385;AAD49221;AAH02434;AAP35542;BAG35071;CAG46941;EAW52274;EAW52275;EAW52276;NP_001035948;NP_036517;O60356 Hs.513463 1672959;2124857 D16S3305;L17828 COM1;P8 OTTHUMP00000162567;candidate of metastasis 1;nuclear protein 1;protein p8 protein-coding ENSG00000176046 29990 17814 614812 VALIDATED 1344412 NUPL2 nucleoporin like 2 7 7 7 p15 23207732 23226916 + 23188011 23207155 + 23221446 23240630 + 1580863;6480464 10358091;12228227;16000379;15820316;15489334;12690205;12477932;11691994;10610322;10228171;9621063;9450185;16120388;21145461;20936779;10601273;19615732;20379614;20487506;21139048;19838296;22250199;23000965;18039376;19275582;19458171;20012529;21318276 11097 B4DT96;C9JYA1;F8WC66;O15504 AACC02000007;ABBA01056700;ABBA01056701;AC005082;AI352214;AK298183;AK300113;AK312991;AMYH01017110;AMYH01017111;BC005327;BC039333;BC107583;BT007409;CH236948;CH471073;DC398445;NM_007342;U97198 AAC33794;AAH05327;AAH39333;AAI07584;AAP36077;BAG35828;BAG60454;BAG61908;EAL24260;EAW93775;EAW93776;EAW93777;EAW93778;EAW93779;NP_031368;O15504 Hs.408241 1659583;1670373;1735690;1769294;1772613;1852121;2155147;2165786;5022578;5037552 D1S1423;D7S2145E;D7S2154E;D7S2314;D8S2279;RH18376;RH46018;RH66107;SHGC-55980;STS-T90856 CG1;NLP-1;NLP_1;hCG1 H_RG271G13.9;NUP42 homolog;OTTHUMP00000122423;OTTHUMP00000202054;OTTHUMP00000202058;nucleoporin hCG1;nucleoporin-like protein 1;nucleoporin-like protein 2 protein-coding ENSG00000136243 17010 14855 VALIDATED 1343027 NUTF2P2 nuclear transport factor 2 pseudogene 2 14 14 14 q13.2 16152830 16153681 + 35358615 35359665 + 36288964 36289815 + 326613 ABBA01061510;AL162311;AMYH01005669;NG_002603 pseudo 19934 INFERRED 1317328 NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 6 6 6 q22.1 118739521 118774823 + 118103310 118138583 + 117996617 118031890 + 6480464 17764014;16835300;15489334;14574404;12477932;9294218;19723497;21572394 116150 Q96E22 ABBA01026034;AJ420576;AK025467;AK125119;AK126335;AK130093;AL590303;AMYH01016620;BC013026;BC063794;BC066910;BC110325;BC150654;BC150655;CH471051;NM_138459;Z98172 AAH13026;AAH63794;AAH66910;AAI10326;AAI50655;AAI50656;BAG54148;EAW48201;NP_612468;Q96E22 Hs.289008 1703648;1751017;2174239;5016877;5109757;5123438 D13S874E;G22117;RH98866;SHGC-104939;SHGC-34264;SHGC-78764 C6orf68;MGC117249;MGC7199;MGC:7199;NgBR;TANGO14 OTTHUMP00000017089;nogo-B receptor;transport and golgi organization 14 homolog protein-coding ENSG00000153989 21042 12894 610463 VALIDATED 1323029 NUP93 nucleoporin 93kDa 16 16 16 q13 41261349 41377957 + 55321608 55436178 + 56764017 56878862 + 6480464 17353931;12228227;16344560;16286466;15489334;15009096;21145461;14702039;12477932;9531546;9348540;7788527;12802065;20562859;10601273;16600873;19615732;20031564;20085707;19454010;15229283;22939629;22990118;20360068;21081666;16196087;21875946;19471022;21139048;21890473;21906983;21252943;18457437;21415862;19322201;22780124;22586326;10668806;22053931;22505724 9688 H3BM93;H3BMX0;H3BNG7;H3BNN5;H3BP72;H3BP95;H3BPA9;H3BRD9;H3BRI8;H3BV11;H3BV15;H3BVE2;H3BVG0;Q8N1F7 ABBA01025250;ABBA01025251;AC012181;AC106779;AC127456;AF086282;AK056637;AK292262;AK294176;AMYH01007691;AMYH01007692;AMYH01007693;BC034346;CH471092;D42085;DA495676;DA531475;DA587787;NM_001242795;NM_001242796;NM_014669 AAH34346;BAA07680;BAF84951;BAG51770;BAH11689;EAW82887;NP_001229724;NP_001229725;NP_055484;Q8N1F7 Hs.276878 1676818;1703266;1705812;2125743;2182397;2191377;5091998 MARC_17957-17958:1024499204:3;RH25323;RH65675;SHGC-24014;SHGC-35816;SHGC-58086;SHGC-79844 KIAA0095;MGC21106;NIC96 93 kDa nucleoporin;OTTHUMP00000164379;nuclear pore complex protein Nup93;nucleoporin Nup93 protein-coding ENSG00000102900 28958 14854 614351 VALIDATED 733793 NUP98 nucleoporin 98kDa Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kDa nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kDa precursor protein. This cleavage results in the 98 kDa nucleoporin as well as a 96 kDa nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kDa nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, May 2010] 11 11 p15.5 3652816 3775468 - 3696240 3819022 - 1580863;737758;6480464 12461755 22058212;9348540;7736573;15229283;10087256;19240061;19000832;18604245;18566322;18388181;18287282;18084320;18045934;17589499;17442773;17287853;17178874;17081983;16964243;16861351;16565220;16286466;15951287;15725483;15681849;15489334;15454493;15359631;15302935;15207818;14966272;14718558;14561764;14554087;14517296;12970787;12931227;12589057;12477932;12228227;12191480;12138901;12112533;12082612;11986249;11950939;11830496;11809937;11782354;11684705;11564755;11493482;11248057;11238447;11106761;10875935;10668806;10556215;10209021;9858599;9847314;9166830;9114010;8943370;8707840;8563754;8563753;9368759;11551912;12802065;9275187;11352911;11073998;17353931;15629720;9144189;16479161;20936779;20237156;10601273;16651408;19454010;20861915;20554795;20498086;20558618;14968112;15146057;16344560;17360435;17650673;18832153;19615732;19665070;19696924;19789179;19828735;20339440;20935257;11839768;21335236;22945772;22412018;23541576;23752268;22863883;22990118;21328509;20360068;21813447;21930948;21467841;20547757;20676042;22110128;22586326;21139048;21890473;21906983;21948299;21987572;22103895;22480613;22613470;19745842;21963094;22113938;22929522;23000965;23028327;15851029;17172455;23468646;23523133;16314397;23246429;15161980;17304248;19149559;22505724;23102701 4928 E9PNN0;H0YCR0;H0YCT1;H0YDA1;H0YDF4;H0YEN4;H7BYP8;H7C3P6;J3KP29;Q9Y6J4 AB038344;AB040538;ABBA01032050;ABBA01032051;AC060812;AC090587;AF071076;AF071077;AF116074;AF231130;AK292882;AK301512;AL133601;AL137613;AMYH01003347;AMYH01003348;BC012906;BC041136;BG773331;BT007349;CH471158;DB084013;NM_005387;NM_016320;NM_139131;NM_139132;U41815 AAC50366;AAD22395;AAD22396;AAF19342;AAH12906;AAH41136;AAL56659;AAP36013;BAB11850;BAB18537;BAF85571;BAG63020;CAB63736;CAB70842;EAX02561;EAX02562;EAX02563;EAX02564;EAX02565;EAX02566;NP_005378;NP_057404;NP_624357;NP_624358;P52948 Hs.524750 1340361;1644173;1660262;1683122;1721451;1731539;1738013;1752721;1759621;1772360;2150111 D11S1254;D11S1883;D11S3624;G29170;G30118;G59577;RH18062;RH48599;RH81020;SHGC-106541;SHGC-150849 ADIR2;NUP196;NUP96 GLFG-repeat containing nucleoporin;Nup98-Nup96;OTTHUMP00000013622;OTTHUMP00000013819;OTTHUMP00000013953;OTTHUMP00000013954;OTTHUMP00000234880;nuclear pore complex protein Nup98-Nup96;nucleoporin 98 APPROVED protein-coding ENSG00000110713 8068 03012 601021 REVIEWED 1346368 NUTM2B NUT family member 2B 10 10 q22.3 81131411 81143340 + 81462983 81472511 + 16713569 729262 A6NNL0 AL132656;AMYH01002862;AMYH01002863;AMYH01002864;AMYH01002865;AMYH01002866;AMYH01002867;HY013942;NM_001278495 A6NNL0;NP_001265424 Hs.742755 FAM22B;bA119F19.1 family with sequence similarity 22, member B;protein FAM22B APPROVED protein-coding 23445 VALIDATED 1353907 NUPL1 nucleoporin like 1 This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 13 13 13 q12.13 6939918 6980809 + 24773666 24814561 + 25875666 25916561 + 1580863;6480464 15489334;15342556;14702039;12477932;12228227;11266456;9455477;8889548;7531196;10601273;20936779;23383273;22939629;21900206;21139048;21890473;21906983;22505724 9818 F8WBZ1;F8WC35;F8WCJ8;H7BYF2;Q5JRG1;Q9BVL2 AB007870;ABBA01007900;ABBA01007901;ABBA01007902;AF113020;AK025800;AK026604;AK123955;AK302946;AK303409;AL138958;AL359556;AL590787;AL646102;AMYH01004978;BC001104;BG330006;BM976542;BP249090;CH471075;NM_001008564;NM_014089 AAH01104;BAA23706;BAG53985;BAG64103;BAG64462;EAX08368;EAX08369;EAX08370;EAX08371;NP_001008564;NP_054808;Q9BVL2 Hs.507537;Hs.718943;Hs.732064 1850952;5022450 D10S275;SHGC-36370 KIAA0410;PRO2463 OTTHUMP00000018146;OTTHUMP00000018148;OTTHUMP00000018149;OTTHUMP00000214938;OTTHUMP00000214939;nucleoporin p58/p45;nucleoporin-like protein 1 APPROVED protein-coding ENSG00000139496 20261 06355 607615 REVIEWED 1344165 NUTM2D NUT family member 2D 10 10 q23.2 89107457 89120432 + 89117477 89130452 + 15164054 728130 Q5VT03 AB095940;ABBA01052482;ABBA01052483;AL645612;AMYH01002921;AMYH01002922;AMYH01002923;AMYH01002924;NM_001009610;NR_075100 BAC23116;NP_001009610;Q5VT03 Hs.701044;Hs.710565 FAM22D;KIAA2020 OTTHUMP00000020024;hypothetical protein LOC728130;protein FAM22D APPROVED pseudo ENSG00000214562 23447 VALIDATED 7241733 NUTM2A-AS1 NUTM2A antisense RNA 1 10 q23.2 88998424 89102315 - 16344560 728190 ABBA01015527;AI832214;AK309777;AK311174;AL157893;AMYH01002907;AMYH01002908;AMYH01002909;AMYH01002910;AMYH01002911;AMYH01002912;AMYH01002913;AMYH01002914;AMYH01002915;AMYH01002916;AMYH01002917;AMYH01002918;AMYH01002919;AMYH01002920;AMYH01002921;BC047063;BE856553;DB257428;NR_024397 Hs.647195 1666976;1717525;2143547;2157034;5015961;5022322;5023317;5037552;5124426 D11S2560;D15S1477;D8S2279;RH124027;RH46980;RH92130;SHGC-34792;WI-11484;WI-22196 FAM22A-AS1 APPROVED miscrna ENSG00000223482 45161 VALIDATED 1351697 NUTM2G NUT family member 2G 9 9 q22.33 98730413 98744393 + 99691286 99704572 + 15164053 441457 Q5VZR2 AL158827;AMYH01021548;AMYH01021549;NM_001045477;NM_001170741 NP_001038942;NP_001164212;Q5VZR2 Hs.652383 2176353 STS-N33264 FAM22G OTTHUMP00000021736;OTTHUMP00000021737;family with sequence similarity 22, member G;family with sequence similarity 22, pseudogene;hypothetical protein LOC441457;protein FAM22G APPROVED protein-coding ENSG00000188152 23449 VALIDATED 7206930 NUTM2HP NUT family member 2H, pseudogene 10 q11.23 52436503 52445370 + 729023 AL589794;AMYH01002733;NG_028755 FAM22HP APPROVED pseudo 45017 INFERRED 1605553 NUTM1 NUT midline carcinoma, family member 1 15 15 15 q14 11440706 11454967 + 32425358 32437225 + 34638066 34649933 + 6480464 18391746;17934517;15994877;12543779;12477932;19550370;20871268;20676058;22425924;21652721;22301500 256646 E7EVE8;F5H4I6;Q86Y26 ABBA01038535;ABBA01038536;ABBA01038537;ABBA01038538;AC021822;AC025678;AF482429;AK098568;AK302656;AK302680;AL137416;AMYH01006511;AMYH01006512;BC033392;BC114518;BC114567;CH471125;HC007186;HC044713;NM_175741 AAI14519;AAI14568;AAO39268;BAC05337;BAG63912;BAH13770;CAB70729;CBH19398;CBH30686;EAW92304;EAW92305;NP_786883;Q86Y26 Hs.525769 C15orf55;DKFZp434O192;FAM22H;MGC138683;MGC138684;NUT NUT family member 1;nuclear protein in testis;protein NUT APPROVED protein-coding ENSG00000184507 29919 10606 608963 VALIDATED 1353494 NUTM2E NUT family member 2E 10 10 q22.3 81589513 81604115 + 81601114 81610632 + 12477932 283008 B1AL46;R4GNA6 AL135925;AMYH01002877;AMYH01002878;NG_012781 B1AL46 FAM22E APPROVED pseudo 23448 16878 INFERRED 1342942 NUTM2F NUT family member 2F 9 9 q22.32 96120299 96130747 - 97080478 97090926 - 6480464 12477932 54754 A1L443;A6NIL2;E2QRH1 ABBA01007201;AL133071;AL691447;AMYH01021522;AMYH01021523;AMYH01021524;AMYH01021525;AMYH01021526;BC130390;BC143798;NM_017561 A1L443;AAI30391;AAI43799;ADR83260;CAB61394;NP_060031 Hs.648183 2176353 STS-N33264 DKFZp434I1117;FAM22F;MGC163262 OTTHUMP00000021689;family with sequence similarity 22, member F;hypothetical protein LOC54754;protein FAM22F APPROVED protein-coding ENSG00000130950 23450 VALIDATED 1602054 NUTM2A NUT family member 2A 10 10 q23.2 88975185 88984715 + 88985205 88994735 + 12477932;21139048 728118 H7BZQ1;Q8IVF1 AL157893;AMYH01002905;AMYH01002906;AMYH01002907;BC033231;BC092519;EG328792;NM_001099338 NP_001092808;Q8IVF1 Hs.710565 5124899 RH92280 FAM22A OTTHUMP00000020023;family with sequence similarity 22, member A;hypothetical protein LOC728118;protein FAM22A APPROVED protein-coding ENSG00000184923 23438 VALIDATED 1313993 NUSAP1 nucleolar and spindle associated protein 1 NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009] 15 15 15 q15.1 18392903 18441220 + 39412361 39460538 + 41624892 41673248 + 6480464 12963707;16344560;14702039;12477932;8125298;19322201;22101338;17643375;20053754;21832049;22863883;22939629;22349817;16196087;21782797;20360068;21139048;18029348;23128233 51203 E9PB35;H0YKA7;H0YM18;H0YMD2;Q9GZM9 ABBA01038412;ABBA01038413;ABBA01038414;ABBA01038415;AC087721;AF090915;AF217513;AF290612;AF305711;AK023483;AK222819;AK225703;AK290879;AK293168;AK307728;AL833611;AMYH01006569;BC001308;BC010838;BC011008;BC012887;BC024772;BG259258;CH471125;DB046574;DB047195;NM_001243142;NM_001243143;NM_001243144;NM_016359;NM_018454 AAF24034;AAF67624;AAG25874;AAH01308;AAH10838;AAH12887;AAH24772;AAK28023;ABM82514;ABM85708;BAB14586;BAD96539;BAF83568;BAG56712;EAW92482;EAW92483;EAW92484;EAW92485;EAW92486;NP_001230071;NP_001230072;NP_001230073;NP_057443;NP_060924;Q9BXS6 Hs.615092 2148605;2166483;5021876;5116974 A005D47;SGC35140;ha1547;ha3102 ANKT;BM037;FLJ13421;LNP;NUSAP;PRO0310p1;Q0310;SAPL nucleolar and spindle-associated protein 1;nucleolar protein ANKT APPROVED protein-coding ENSG00000137804 18538 612818 VALIDATED 1345837 NUTF2 nuclear transport factor 2 The protein encoded by this gene is a cytosolic factor that facilitates protein transport into the nucleus. It interacts with the nuclear pore complex glycoprotein p62. This encoded protein acts at a relative late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. It is thought to be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. [provided by RefSeq, Jul 2008] 16 16 q22.1 66438320 66462720 + 67880819 67905219 + 6480464 7744965;19404486;18266911;15522285;15489334;12477932;11310559;11129791;10679025;9822603;9562972;9533885;9368653;8757804;8707840;7458421;3380696;9102465;16169070;19060906;19060911;21195711;22880006;22939629;20639865;20805321;18029348;16449645;21139048;21890473;21906983;19322201;10228171;19369352;22053931;22505724 10204 H3BRV9;P61970 ABBA01025462;ABBA01025463;AC040162;AK293739;AK311822;AMYH01007754;BC002348;BC033653;CH471092;CR456937;NM_005796;U43939;X07315 AAA85905;AAH02348;ACE86456;ACE87137;BAG34764;BAG57163;CAA30278;CAG33218;EAW83181;EAW83182;NP_005787;P61970 Hs.744185 1779782;2108847;2135204 NUTF2_9060;SHGC-153756;SHGC-31645 NTF2;PP15 NTF-2;OTTHUMP00000174844;nuclear transport factor 2;placental protein 15 APPROVED protein-coding 13722 12050 605813 REVIEWED 1603388 NXF4 nuclear RNA export factor 4 pseudogene X X X q22 102243524 102265252 + 101691549 101713277 + 101804893 101826621 + 11566096;11073998 55999 Q6ZVD3 ABBA01020946;ABBA01020947;ABBA01020948;AK124700;AL035551;AMYH01022792;CH471190;NR_002216 BAC85929;EAW54735 Hs.454283 FLJ42710 pseudo ENSG00000196970 8074 300318 VALIDATED 1626558 NXF2B nuclear RNA export factor 2B X X q22.1 101501972 101613388 - 101615316 101694929 - 6907045 11073998;18029348;16382448;15772651;15489334;14702039;12704671;11566096;11279525;10567585 728343 Q5JRM6;Q9GZY0 ABBA01020939;ABBA01020940;AC235565;AF285596;AK000423;AK303069;AK308255;AL590069;AMYH01022760;AMYH01022761;AMYH01022762;AMYH01022763;AMYH01022764;AMYH01022765;AMYH01022766;AMYH01022767;AMYH01022768;AMYH01022769;AMYH01022770;BX647232;CH471190;NM_001099686;XM_003960832 AAK31975;BAA91154;BAG64186;CAD13494;CAI40394;CAI40395;EAW54741;NP_001093156;Q9GZY0;XP_003960881 Hs.648337;Hs.737538 1699850;1702486;2145134;5107161 AF020177;G65767;RH103532;sWXD3381 DKFZp686N2036;FLJ20416;FLJ54838;FLJ98203;NXF2;bA353J17.1 CT39;OTTHUMP00000024327;OTTHUMP00000024328;OTTHUMP00000024330;TAP-like protein 2;TAPL-2;cancer/testis antigen 39;nuclear RNA export factor 2;nuclear RNA export factor 2-like protein-coding ENSG00000185945 23984 VALIDATED 1604179 NWD1 NACHT and WD repeat domain containing 1 19 19 19 p13.11 16732646 16830313 + 16691787 16789764 + 16830787 16928774 + 6480464 14702039;12477932;8889548;20379614 284434 C9J2Y8;E5RJJ1;E9PBV1;F8W0U9;Q149M9 AA535500;ABBA01051160;ABBA01051161;ABBA01051162;ABBA01051163;ABBA01051164;ABBA01051165;ABBA01051166;ABBA01051167;ABBA01051168;ABBA01051169;ABBA01051170;ABBA01051171;AC008737;AK026798;AK090685;AMYH01009564;AMYH01009565;AMYH01009566;BC117698;BU685952;BX648940;CR749794;NM_001007525 AAI17699;CAH18655;NP_001007526;Q149M9 Hs.406014 2160287;5015404;5016478;5024413;5037552 D19S1171;D8S2279;GDB:434012;L17705;L17877 MGC134940 NACHT and WD repeat domain-containing protein 1;OTTHUMP00000226863;OTTHUMP00000240837;OTTHUMP00000240838 protein-coding ENSG00000188039 27619 17337 VALIDATED 1350601 NXNL1 nucleoredoxin-like 1 19 19 19 p13.11 17467985 17473494 - 17427234 17432725 - 17566234 17571725 - 737633;1580863;6480464 12477932 19402160;18474255;17286855;17249548;15220920;21079812;19843539;17207965;20949100;21044950 115861 Q0QD37;Q96CM4 ABBA01051203;ABBA01051204;AC010319;AMYH01009574;AMYH01009575;BC014127;CH471106;DQ426894;NM_138454 AAH14127;ABD90545;ADQ33150;EAW84608;NP_612463;Q96CM4 Hs.661836 RDCVF;TXNL6 nucleoredoxin-like protein 1;rod-derived cone viability factor;thioredoxin-like 6;thioredoxin-like protein 6 protein-coding ENSG00000171773 25179 12300 608791 PROVISIONAL 1322636 NVL nuclear VCP-like This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011] 1 1 1 q41-q42.2 197605972 197708808 - 222481659 222584495 - 224415036 224517891 - 1580863;6480464;6907045 15342556;9286697;16782053;15489334;15469983;12477932;12429849;10737800;8889548;16169070;12927788;21145461;18029348;19851296;20198315;21042317;22586326;21474449;21900206;19471022;21139048;21890473;22226966 4931 B4DF43;C9J6P7;C9JP83;E7ERY0;E7EWK7;E9PGD8;E9PH71;F8W938;F8WF01;H0Y8B6;O15381 ABBA01009699;ABBA01009700;ABBA01009701;ABBA01009702;ABBA01009703;ABBA01009704;ABBA01009705;ABBA01009706;ABBA01009707;AC092809;AF401208;AK293923;AK297070;AK297396;AK298244;AK298826;AMYH01001766;AW997091;BC005897;BC012105;BP284587;BQ883523;BU683548;CH471098;NG_029641;NM_001243146;NM_001243147;NM_002533;NM_206840;U68140;U78772 AAB70457;AAB70460;AAH05897;AAH12105;AAL02167;ADZ16067;BAG57304;BAG59590;BAG59836;BAG60510;BAG60956;EAW69714;EAW69715;EAW69716;NP_001230075;NP_001230076;NP_002524;NP_996671;O15381 Hs.497867 1340367;1651074;1710750;2145698;5015619;5022200 AFM249yg9;D11S3114;D1S2763;L18426;SHGC-52483;SHGC-84009 NVLp;OTTHUMP00000035641;OTTHUMP00000216593;OTTHUMP00000216594;OTTHUMP00000216599;OTTHUMP00000216600;nuclear VCP-like protein;nuclear valosin-containing protein-like APPROVED protein-coding ENSG00000143748 8070 03887 602426 REVIEWED 1352335 NXPE1 neurexophilin and PC-esterase domain family, member 1 11 11 11 q23.2 111545452 111583563 - 113897647 113935790 - 114392437 114430580 - 737633;6480464 12477932 21297633;23128233 120400 F5H0Y6;F5H259;F5H6W7;G3V1T0;Q8N323 ABBA01039770;AC020549;AI347274;AMYH01004043;BC029049;BC037844;BX648601;CH471065;EF444977;NM_152315 AAH29049;ABM81780;ABM84934;ACA05991;EAW67251;EAW67252;NP_689528;Q8N323 Hs.721328 FAM55A;MGC34290 NXPE family member 1;OTTHUMP00000238511;family with sequence similarity 55, member A;hypothetical protein LOC120400;protein FAM55A APPROVED protein-coding ENSG00000095110 28527 13315 VALIDATED 1346108 NXF5 nuclear RNA export factor 5 This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009] X X X q22 101607687 101633150 - 100973741 100999205 - 101087085 101112549 - 1580863;6480464;6907045 11566096;18029348;19377476;14759258;12784308;12477932;11073998;17978099 55998 Q9H1B2 ABBA01045028;ABBA01045029;AJ277654;AJ277655;AJ277656;AJ277657;AJ277658;AL672207;AMYH01022735;BC131708;CH471115;NG_009851;NM_032946;NR_028089;Z70228;Z70758 AAI31709;CAC20428;CAC20429;CAC20430;CAC20431;CAC20432;CAI42475;CAI42476;CAI42477;CAI42478;EAX02892;EAX02893;EAX02894;EAX02895;EAX02896;NP_116564;Q9H1B4 Hs.307077 5107161 G65767 OTTHUMP00000023698;OTTHUMP00000023699;OTTHUMP00000023701;OTTHUMP00000023702;OTTHUMP00000217639;TAP-like protein 1;TAPL-1;nuclear RNA export factor 5 APPROVED protein-coding ENSG00000126952 8075 02263 300319 REVIEWED 1344828 NXF2 nuclear RNA export factor 2 This gene is one of a family of nuclear RNA export factor genes. It encodes a protein that is involved in mRNA export, is located in the nucleoplasm, and is associated with the nuclear envelope. Alternative splicing seems to be a common mechanism in this gene family. Two variants have been found for this gene. [provided by RefSeq, Jul 2008] X X X q22.1 102062334 102165364 - 101356936 101468287 + 101502094 101581634 + 1580863;6480464;6907045 18258234;18029348;15772651;15489334;14702039;12477932;11566096;11279525;11073998;10567585;16014633;21832049;17978099 56001 Q5JRM6;Q9GZY0 ABBA01045060;ABBA01045061;ABBA01045062;ABBA01045063;ABBA01045064;AC234791;AJ277526;AJ277659;AK057385;AK093310;AK307893;AL157436;AL356322;AMYH01022747;AMYH01022748;AMYH01022749;AMYH01022750;AMYH01022751;AMYH01022752;AMYH01022753;AMYH01022754;AMYH01022755;AMYH01022756;AMYH01022757;AMYH01022758;AMYH01022759;AMYH01022760;BC015020;NM_022053;XM_003846764;Z68332;Z70226;Z70689;Z81367 AAH15020;ABM82066;ABM85245;CAB75659;CAC16588;CAC20433;CAI41980;CAI42026;CAI42027;NP_071336;Q9GZY0;XP_003846812 Hs.530358;Hs.737538 1699850;5107161 G65767;RH103532 CT39;FLJ20416;NXF2B;TAPL-2 OTTHUMP00000023710;OTTHUMP00000023711;OTTHUMP00000023712;TAP like protein 2;TAP-like protein 2;cancer/testis antigen 39;nuclear RNA export factor 2;t-complex protein 11 homolog APPROVED protein-coding ENSG00000185554 8072 02260 300315 REVIEWED 1351751 NXNL2 nucleoredoxin-like 2 9 9 9 q22.1 61726247 61766931 + 90339840 90380524 + 91150016 91190704 + 737633;6480464 12477932 17764561;15489334;15164053;20949100 158046 Q5VZ03 ABBA01016519;ABBA01016520;ABBA01016521;AL162729;AL592486;AMYH01021492;AMYH01021493;BC022521;BI517442;CH471089;NM_001161625;NM_145283 AAH22521;ADZ15991;EAW62756;NP_001155097;NP_660326;Q5VZ03 Hs.734507 1731795 D9S297 C9orf121;RDCVF2 OTTHUMP00000161664;nucleoredoxin-like protein 2 protein-coding ENSG00000130045 30482 12938 615299 VALIDATED 1354288 NXF3 nuclear RNA export factor 3 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008] X X X q22 102769795 102787069 - 102217405 102234678 - 102330749 102348022 - 1580863;6907045 11545741;15489334;14702039;12477932;11566096;11073998;16189514;19060904;18029348;22379092;17978099 56000 B4DYS7;E9PE86;H0Y6A1;Q9H4D5 ABBA01021005;ABBA01021006;ABBA01021007;AF346619;AJ277527;AJ277660;AK057086;AK302447;AK302586;AMYH01022796;BC031616;CH471190;NG_012572;NM_022052;Z75746 AAH31616;AAL07564;ABM82245;ABM85429;BAG63743;BAG63839;CAC16589;CAC20434;EAW54722;NP_071335;Q9H4D5 Hs.60386 1683629;1698864;1769052 RH102997;RH66164;RH79750 OTTHUMP00000023726;OTTHUMP00000023727;TAP-like protein 3;TAPL-3;nuclear RNA export factor 3 APPROVED protein-coding ENSG00000147206 8073 02261 300316 REVIEWED 737301 NXF1 nuclear RNA export factor 1 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 q12-q13 62316174 62329540 - 62559598 62572964 - 1580863;6480464;6907045 9175835;10924507;11583626;15184380;19019956;18670889;17978099;17609285;17333237;17001072;16971948;16713569;16344560;16189514;15767397;15489334;15210956;14963046;14702039;12581645;12477932;12384575;12093754;11875519;11854490;11724776;11707413;11566096;11551912;11546874;11546873;11259411;11256625;11073998;11060011;10668806;10454577;10323864;10228171;10202158;9933612;9660949;9166830;15358174;21145461;16014633;17036044;19165146;19369354;19586903;19836239;19924249;20015986;20071484;16341674;22893130;21060739;21822283;21613532;21299467;18337511;22939629;20360068;21725067;21252943;14730019;21139048;21890473;21965294;22318606;22586326;7707528;22505724;22797925 10482 E9PIN3;E9PLA7;E9PMV7;E9PQA4;H0YDU0;Q59E96;Q9UBU9 AB209915;ABBA01003246;AF112880;AF126246;AJ132712;AK027192;AK304082;AK304137;AK304743;AK307961;AK307998;AMYH01003691;AP001160;AV750251;AW005685;BC004904;BC017421;BC028041;BM751313;CH471076;CR749674;DB141140;NM_001081491;NM_006362;U80073 AAB81111;AAD20016;AAD39102;AAH04904;AAH28041;ABM83857;ABM87179;BAD93152;BAG64989;BAG65031;BAG65502;CAA10753;CAH18465;EAW74103;EAW74104;EAW74105;EAW74106;EAW74107;NP_001074960;NP_006353;Q9UBU9 Hs.523739;Hs.601546 1651216;1682377;1725831;1774944;1847697;2129935;2174446;2174448;2184994;5022649 A002C37;D11S2875;G19937;G62080;RH16408;RH46572;RH80822;SHGC-31800;STS-U26648;WI-19608 DKFZp667O0311;MEX67;TAP OTTHUMP00000236352;OTTHUMP00000236353;mRNA export factor TAP;nuclear RNA export factor 1;nuclear rna export factor 1 homolog (s. cerevisiae);tip associating protein;tip-associated protein;tip-associating protein APPROVED protein-coding ENSG00000162231 8071 04035 602647 REVIEWED 1348429 NXPE3 neurexophilin and PC-esterase domain family, member 3 3 3 3 q12.3 99891428 99940459 + 102980764 103025150 + 101498029 101547075 + 737633;6480464 12477932 16344560;14702039;12975309;21832049 91775 C9K0A9;Q969Y0 ABBA01061767;AC020651;AC084198;AF173890;AK054664;AK289689;AMYH01013360;AMYH01013361;AY358207;BC009431;BQ014992;CH471052;DA213047;NM_001134456;NM_145037 AAH09431;AAQ13637;AAQ88574;ABM87416;ABW03881;BAB70787;BAF82378;EAW79774;EAW79775;NP_001127928;NP_659474;Q969Y0 Hs.595933 1658551;1663809;1670462;1764113;2176993;5015961;5016596;5022651;5109281 D11S2921;D15S1477;D1S1425;G16618;GDB:631802;RH65845;SGC32483;SHGC-147762;SHGC-77168 FAM55C;FLJ30102;MGC15606;MST115;MSTP115 NXPE family member 3;OTTHUMP00000214282;OTTHUMP00000214283;OTTHUMP00000214284;family with sequence similarity 55, member C;hypothetical protein LOC91775;protein FAM55C APPROVED protein-coding 28238 10073 VALIDATED 1350536 NXPE4 neurexophilin and PC-esterase domain family, member 4 11 11 11 q23.2 111594297 111619464 - 113946523 113971694 - 114441313 114466484 - 6480464 16344560;15375555;14702039;12975309;8125298;20379614;20056006;23128233 54827 Q6UWF7 ABBA01039769;ABBA01039770;AC020549;AK000134;AK225236;AMYH01004043;AY358805;AY547307;CH471065;DA428771;NM_001077639;NM_017678 AAQ89165;AAS55888;BAA90965;EAW67253;EAW67254;NP_001071107;NP_060148;Q6UWF7 Hs.179100 1680363 RH98691 C11orf33;FAM55D;FLJ20127 NXPE family member 4;OTTHUMP00000238522;OTTHUMP00000238523;family with sequence similarity 55, member D;hypothetical protein LOC54827;protein FAM55D APPROVED protein-coding ENSG00000137634 23117 12607 VALIDATED 1321419 NXN nucleoredoxin 17 17 17 p13.3 714726 894595 - 649335 829760 - 702553 882998 - 1580863;6480464 10737800;19308021;17567240;14702039;12477932;10903915;9119370;17353931;19322201;16764867;19615732;21251912;21139048;21890473;21906983;22566634;23000965;23300278 64359 B4DNN6;I3L4V6;Q6DKJ4 ABBA01054619;ABBA01054620;ABBA01054621;ABBA01054622;ABBA01054623;ABBA01054624;ABBA01054625;ABBA01054626;ABBA01054627;ABBA01054628;AC015884;AC036164;AC087392;AF086523;AK022676;AK027451;AK297990;AK302073;AMYH01007979;AMYH01007980;AMYH01007981;AMYH01007982;AMYH01007983;AW752727;AY189690;BC009327;BC063828;BC073845;BC104634;BU856030;CH471108;CX786695;NM_001205319;NM_022463 AAH09327;AAH63828;AAH73845;AAI04635;AAI52723;AAI53026;AAO85223;BAB14171;BAB55122;BAG60298;BAG63462;EAW90639;EAW90640;EAW90641;NP_001192248;NP_071908;Q6DKJ4 Hs.527989 1340616;1658226;1666984;1721695;1762737;1779748;2120740;2137861;5015605;5015619;5037552 D11S2977;D11S3114;D17S2008;D17S663;D17S695;D8S2279;G59710;RH47611;SHGC-146526;SHGC-153726;SHGC-33249 FLJ12614;NRX;TRG-4 OTTHUMP00000115356;nucleoredoxin;nucleoredoxin 1 protein-coding ENSG00000167693 18008 14858 612895 VALIDATED 5488829 NXT1P1 NTF2-like export factor 1 pseudogene 1 13 39743769 39744087 - 100652801 ABBA01021315;AL354809;AMYH01005048;NG_030242 pseudo 39708 INFERRED 1349773 NXPE2 neurexophilin and PC-esterase domain family, member 2 11 11 11 q23.3 111702152 111730583 + 114054410 114082862 + 114549200 114577652 + 6480464 12477932 120406 J3KPD2;Q96DL1 ABBA01039768;AK057953;AMYH01004045;AP002774;BC111797;CH471065;NM_182495 AAI48386;AAI56725;BAB71621;EAW67255;NP_872301;Q96DL1 Hs.446760 1757213;2143026;5016478;5020740 C95580;GDB:434012;L17809;SHGC-144632 FAM55B;FLJ25224 NXPE family member 2;OTTHUMP00000238524;family with sequence similarity 55, member B;hypothetical protein LOC120406;protein FAM55B APPROVED protein-coding ENSG00000204361 26331 08055 VALIDATED 1344701 NXPH2 neurexophilin 2 2 2 2 q22.1 133138346 133249419 - 139144921 139254281 - 139426727 139537811 - 1580863;6480464 9570794;15489334;12477932;8699246;19478329;21956439 11249 O95156;Q494R3 AB162675;ABBA01028119;ABBA01028120;ABBA01028121;ABBA01028122;AC092620;AC092837;AC110421;AF043467;AMYH01011131;BC101461;BC101462;BC101463;BC104741;NM_007226 AAD02280;AAI01462;AAI01463;AAI01464;AAI04742;BAD11132;NP_009157;O95156 Hs.435019 2137361 D2S2688 MGC125477;MGC125478;MGC125479;MGC125480;NPH2 OTTHUMP00000204222;neurexophilin-2 protein-coding 8076 11983 604635 VALIDATED 735663 NXPH3 neurexophilin 3 17 17 17 q21.33 44108295 44116169 + 45008478 45012717 + 47653298 47661172 + 1580863;6480464 15340161;21145461;9570794;15489334;12975309;12477932;10574461;9856994;8699246;7566098;17474147;21900206 11248 D6RGW2;O95157 AA325150;AB032985;ABBA01041208;AC006487;AF043468;AK308928;AL834282;AMYH01008469;AY358526;BC022541;CH471109;NM_007225 AAD02281;AAH22541;AAQ88890;BAA86473;CAD38956;EAW94676;NP_009156;O95157 Hs.55069 1675822;1681446;2109591;2123657 NXPH3_9244;RH93253;RH93316;SHGC-30928 NPH3 OTTHUMP00000220316;neurexophilin-3 protein-coding 8077 06865 604636 VALIDATED 1348812 NYS2 nystagmus 2, congenital autosomal dominant 7240710 8414024;5504065 4933 1339486;1340495 D6S271;D6S455 8080 1602420 NYAP1 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 7 7 7 q22.1 94811349 94822221 + 99919486 99930358 + 100081550 100092422 + 14702039;12690205;21145461;12477932;21946561 222950 C9JS30;Q6ZVC0 AA737804;AACC02000084;ABBA01013207;AC069281;AC092849;AK094857;AK124773;AMYH01017735;AY375450;BC041433;CH236956;CH471091;NM_173564 AAQ83634;BAC04437;BAC85942;EAL23830;EAW76526;NP_775835;Q6ZVC0 Hs.320086 C7orf51;FLJ37538;KIAA1486L OTTHUMP00000207679;OTTHUMP00000207732;hypothetical protein FLJ37538;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1;uncharacterized protein C7orf51 APPROVED protein-coding ENSG00000166924 22009 13427 VALIDATED 737134 NXPH1 neurexophilin 1 This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008] 7 7 7 p22 8443733 8762700 + 8440110 8759118 + 8473585 8792593 + 6480464 18762592;18464913;15489334;14702039;12880961;12853948;12690205;12477932;12141453;9856994;9570794;8699246;17207965;20877300;20732627;20080650;20100581;20379614;21628410;21734401;23544013;22890011;22930747;23251661 30010 B4DJV1;C9JE46;C9JPD0;P58417;Q3LID8 AA575925;AACC02000012;AB047362;AB073665;ABBA01056530;ABBA01056531;ABBA01056532;ABBA01056533;AC004457;AC004613;AC004861;AK091655;AK095624;AK296248;AK315141;AMYH01017066;BC047505;BX107562;CH236948;CH471073;NM_152745 AAH47505;ADQ32481;BAB69044;BAC03713;BAE45730;BAG37590;BAG53094;BAG58963;EAL24301;EAW93621;EAW93622;EAW93623;NP_689958;P58417 Hs.487564 1338741;1664784;1671129;1691394;1718423;1747943;1758983;1766787;1853871;2143608;2149739;2219214;5094871 A008B12;D7S1927;D7S641;G42094;G66886;GDB:1317448;GDB:1318533;NXPH1;NXPH1__6090;RH122413;SHGC-151106;SHGC-152103;WI-22423 NPH1;Nbla00697 OTTHUMP00000200862;OTTHUMP00000200863;OTTHUMP00000200864;neurexophilin-1 APPROVED protein-coding ENSG00000122584 20693 06867 604639 REVIEWED 1344117 NYS3 nystagmus 3, congenital autosomal dominant 7240710 9806847 4934 8081 1349581 NYS4 nystagmus 4, congenital autosomal dominant 7240710 317685 7186320 D13S159 19188 1351006 OA3 ocular albinism 3 (autosomal recessive) 1632442 4936 1298099 D7S2846 8084 736634 NXPH4 neurexophilin 4 12 12 12 q13.3 57272891 57274464 + 55896845 55906493 + 57610578 57620232 + 1580863;6480464 12477932;9570794;15489334;14702039;12975309;17207965 11247 G3V5C5;O95158 ABBA01026707;AC137834;AF043469;AK094231;AK290949;AMYH01004512;AMYH01004513;AY358614;BC036679;BC053581;BU633375;NM_007224 AAD02282;AAH36679;AAH53581;AAQ88977;ADQ32554;BAF83638;NP_009155;O95158 Hs.534396 1690586 RH99132 NPH4 OTTHUMP00000245527;neurexophilin-4 protein-coding ENSG00000182379 8078 06866 604637 VALIDATED 6901233 OACYLP O-acyltransferase like, pseudogene This gene is ancient and exists in archaea, bacteria, fungi, worms, flies, and mammals. The gene has been inactivated by mutation and is nonfunctional in humans and chimpanzees. [provided by RefSeq, Oct 2008] 18 q21.32 56702971 56720446 + 16344560;18085818;20210993 390858 ABBA01056162;AC040963;AMYH01009031;DV080257;NR_024021 Hs.722775 1730547;1731759;1731763 D18S529;D18S531;D18S95 ACYL3P pseudo 44362 PROVISIONAL 1342665 OAP osteoarthrosis, precocious 4937 1336419;1655428 D11S1358;D11S35 8085 1319614 NXT1 NTF2-like export factor 1 The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 20 20 p12-p11.2 23279373 23283408 + 23331373 23335408 + 1580863;6480464;6907045 11256625;11566096;10567585;16189514;15489334;12477932;11780052;11756420;11739738;11583626;11259602;11149927;11073998;10848583;10228171;12483225;19060904;22939629;21139048;21906983;17978099;21988832;23251661 29107 Q9UKK6 ABBA01016176;AF156957;AK026360;AL096677;AMYH01011775;BC000759;BC002687;BC003029;BC003410;CH471133;NM_013248 AAD54942;AAH00759;AAH02687;AAH03029;AAH03410;EAX10163;NP_037380;Q9UKK6 Hs.516933 1337641;1652809;1694450;2109593 D20S871;G42938;NXT1_9580;RH12210 MTR2;P15 NTF2-related export protein 1;NTX2-like export factor1;NUTF-like export factor 1;OTTHUMP00000030420;protein p15 APPROVED protein-coding ENSG00000132661 15913 16159 605811 REVIEWED 1350653 NXT2 nuclear transport factor 2-like export factor 2 The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011] X X X q23 109258641 109267544 + 108665666 108674569 + 108779010 108787927 + 1580863;6480464;6907045 15772651;15489334;14702039;12477932;11073998;11042152;16189514;16344560;21832049;21890473;19322201 55916 Q9NRL7 AA806876;ABBA01043495;ABBA01043496;AF201942;AF212223;AF246127;AJ277591;AJ278323;AK023289;AL031387;AMYH01022839;BC014888;BC120984;BC120985;CH471120;CS300605;DA442845;NG_029691;NM_001242617;NM_001242618;NM_018698 AAF78034;AAF86878;AAF87325;AAI20985;AAI20986;BAB14511;CAB96371;CAC01129;CAK32269;EAX02677;EAX02678;EAX02679;EAX02680;NP_001229546;NP_001229547;NP_061168;Q9NPJ8 Hs.25010 1769897;2119902;2152682 A004W13;AL008956;RH11287 P15-2 NTF2-related export protein 2;OTTHUMP00000023840;OTTHUMP00000023841;OTTHUMP00000023842;OTTHUMP00000023843;protein p15-2 APPROVED protein-coding ENSG00000101888 18151 02264 300320 REVIEWED 2311477 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 2 2 2 q36.3 220034911 220288003 + 225973846 226226978 + 226265602 226518734 + 16344560;14702039;12477932;10819331;20379614;20889853;21946561;23307926 57624 F8W6E8;Q9P242 AB040919;ABBA01023753;ABBA01023754;ABBA01023755;ABBA01023756;ABBA01050206;AC016717;AC019231;AC067961;AC106890;AK055226;AMYH01011531;BC131727;DA230522;NM_020864 AAI31728;BAA96010;BAB70880;NP_065915;Q9P242 Hs.224409 1341538;1685764;1701518;1705274;1710590;1722905;1750635;1757457;1783940;2111065;2133656;5037552 1674;D2S2204;D2S238E;D8S2279;G60547;RH104392;RH91890;SHGC-111947;SHGC-112014;SHGC-144834;SHGC-78590;SHGC-83961 KIAA1486 OTTHUMP00000203934;hypothetical protein LOC57624;neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2;uncharacterized protein KIAA1486 APPROVED protein-coding ENSG00000144460 29291 VALIDATED 1602422 OAF OAF homolog (Drosophila) 11 11 11 q23.3 117239997 117258863 + 119586957 119605860 + 120081747 120100650 + 6480464 12477932;17207965 220323 E9PJ29;Q86UD1 ABBA01039660;AMYH01004089;AP000679;AY459296;BC008339;BC047726;CH471065;CS208007;HB867192;NM_178507 AAH47726;AAR23238;ADQ33078;CAJ44929;CBF57582;EAW67502;NP_848602;Q86UD1 Hs.445081 1676496;1723065;1736692;1768141;1769881;1773217;2180975;2182028 D1S2077E;RH121884;RH93764;SHGC-57364;STS-D20864;STS-H80295;WI-17120;WI-21512 MGC52117;NS5ATP13TP2 HCV NS5A-transactivated protein 13 target protein 2;OTTHUMP00000231985;OTTHUMP00000231986;out at first protein homolog protein-coding 28752 17646 PROVISIONAL 1346146 OASD ocular albinism and sensorineural deafness 7240710 4941 8089 1345252 NYNRIN NYN domain and retroviral integrase containing 14 14 14 q12 4732635 4753130 + 23937832 23958334 + 24867992 24888494 + 1580863;6480464 14702039;12477932;10718198;16713569;17114934;19561090;21139048;20686565;22505724 57523 Q9P2P1 AB037726;ABBA01061344;ABBA01061345;AK021873;AL132800;AMYH01005612;BC008219;BC065283;BX248773;NM_025081 AAH08219;AAH65283;BAA92543;BAB13925;CAD66580;NP_079357;Q9P2P1 Hs.288348 1668824;1754923;2115211 IB2324;RH66363;SHGC-141849 CGIN1;FLJ11811;KIAA1305 Cousin of GIN1;NYN domain and retroviral integrase catalytic domain-containing protein;OTTHUMP00000245804;protein NYNRIN;protein cousin of GIN1 APPROVED protein-coding ENSG00000205978 20165 VALIDATED 1350886 NYX nyctalopin The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008] X X p11.4 41191631 41219907 + 41306713 41334905 + 1601021;1580863;6480464;7240710 11062471 18617546;17392683;16670814;16553780;15772651;15761389;15489334;15331616;14507859;12552565;12506099;12477932;12397430;11062472;9418727;2574143;20801516;21832182;20301423;22735794 60506 Q9GZU5 ABBA01046665;ABBA01046666;ABBA01046667;ABBA01046668;ABBA01046669;AF254868;AJ278865;AMYH01022232;AMYH01022233;BC112242;CH471141;NG_009112;NM_022567;Z93015 AAG42685;AAI12243;ADR83370;CAC19014;EAW59399;EAW59400;EAW59401;NP_072089;Q9GZU5 Hs.302019 1335684;1784426 DXS8012;SHGC-132042 CLRP;CSNB1;CSNB1A;CSNB4;MGC138447;NBM1 OTTHUMP00000023145;OTTHUMP00000023146;leucine-rich repeat protein;nyctalopin APPROVED protein-coding ENSG00000188937 8082 02232 300278;310500 REVIEWED 1352092 OATL2 ornithine aminotransferase-like 2 4944 8093 1344408 OATP1 ornithine aminotransferase pseudogene 1 10 10 10 q26 119904600 119905059 - 126122343 126122802 - 126132353 126132812 - 8406505 4945 ABBA01034143;AL445237;AMYH01003154;NG_001169;S65768 2149417 STS-R45649 OATL3 APPROVED pseudo 8094 INFERRED 1317992 OARD1 O-acyl-ADP-ribose deacylase 1 6 6 6 p21.1 42587212 42592869 - 41142509 41148166 - 41034531 41040188 - 6480464 15489334;14574404;12477932;21832049;22863883;21849506;21139048;23000965;23481255;22505724 221443 C9IZY1;C9J5P1;C9JA90;C9JNE2;C9JXC3;H7C5Q1;Q05CR9;Q9Y530 ABBA01050760;AJ420538;AK290939;AK310688;AK313361;AL031778;AMYH01016291;BC011709;BC021579;CH471081;NM_145063 AAH11709;AAH21579;BAF83628;BAG36161;EAX04010;EAX04011;EAX04012;NP_659500;Q9Y530 Hs.227457 1654697;1673203;2142851 G31080;RH47657;RH48345 C6orf130;FLJ17636;MGC19570;TARG1;dJ34B21.3 O-acetyl-ADP-ribose deacetylase 1;O-acetyl-ADP-ribose deacetylase C6orf130;O-acetyl-ADP-ribose deacetylase C6orf130 homolog;OTTHUMP00000016364;OTTHUMP00000216761;OTTHUMP00000216762;OTTHUMP00000216763;OTTHUMP00000216765;OTTHUMP00000216766;OTTHUMP00000216771;OTTHUMP00000216772;hypothetical protein LOC221443;terminal ADP-ribose protein glycohydrolase 1 APPROVED protein-coding ENSG00000124596 21257 12849 614393 PROVISIONAL 1345660 OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 q24.2 111829122 111842095 + 113344739 113357712 + 1580863;6480464;6907045;7240710 2440675;3754863;18029348;19434718;19247438;17360168;17092260;16824203;16644715;16541075;16235172;16014697;15865429;15855350;15850793;15766558;15732009;15489334;14702039;12944978;12477932;12447867;12082089;11986302;11980899;11092454;10464285;9790745;9407111;8125298;6348777;3753689;3175763;3121313;2830497;2456211;2426799;2416561;2411547;1708818;1651324;20079393;17963609;21050126;16712791;20588308;20628624;20679634;19462904;19515215;19559055;19575500;19665006;19799013;19956105;20309637;23011799;21182542;21450824;11682059;19923450;19203244;23196181;21735172;21935451;21638280;12799444;18931074;15893726;21988832;23319625;23149075;22709583 4938 B4DWE7;F8VPW7;F8VUC8;F8VXY3;H0YI20;H0YIB8;Q96J61 A14571;A14573;ABBA01019941;AC004551;AJ629455;AK123528;AK223006;AK225384;AK291003;AK300346;AK301498;AMYH01004756;AY730627;AY730628;BC000562;BC061587;BC071981;BE048946;BF055326;BT006785;CB112445;CH471054;D00068;DQ445949;DQ473588;HI179068;HI179070;HI179072;M11809;M11810;M18099;NG_011530;NM_001032409;NM_002534;NM_016816;X02661;X02874;X02875;X04371;X06560;X07179 AAA59955;AAB59552;AAB59553;AAH00562;AAH61587;AAH71981;AAP35431;AAW63049;AAW63050;ABE27977;ABE27978;ABM82818;ABM86005;BAA00047;BAD96726;BAF83692;BAG62090;BAG63009;CAA01166;CAA01167;CAA26497;CAA26633;CAA26634;CAA29803;CAA30164;CAB51602;CAF33358;CBX53842;CBX53843;CBX53844;EAW98019;EAW98020;EAW98021;EAW98022;EAW98023;NP_001027581;NP_002525;NP_058132;P00973 Hs.524760 1651147;1671367;1722617;1774109;1847709;2138000;2155282;2219222 D12S1960;D12S2019;G12116;G60392;OAS1__6098;RH11156;RH17491;RK787_788 IFI-4;OIAS;OIASI (2-5')oligo(A) synthase 1;(2-5')oligo(A) synthetase 1;2',5'-oligo A synthetase 1;2',5'-oligoadenylate synthetase 1, 40/46kDa;2'-5' oligoadenylate synthetase 1 p48 isoform;2'-5' oligoadenylate synthetase 1 p52 isoform;2'-5'-oligoadenylate synthase 1;2'-5'-oligoadenylate synthetase 1;2'-5'-oligoisoadenylate synthetase 1;2-5A synthase 1;2-5A synthetase 1;E18/E16;OTTHUMP00000242101;OTTHUMP00000242103;OTTHUMP00000242104;OTTHUMP00000242106;OTTHUMP00000242107;OTTHUMP00000242109;p46/p42 OAS APPROVED protein-coding ENSG00000089127 8086 08879 164350;222100 REVIEWED 1347854 OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008] 12 12 q24.2 111860632 111895437 + 113376249 113411054 + 1580863;6480464;6907045 2440675;17408844;16541075;16014697;12477932;12447867;11280764;11112351;9880533;9790745;9346316;1708818;19559055;19667218;21050126;20588308;20628624;21270382;19923450;22939629;21903422;21909109;19056102;23149075;22505724;23196181 4940 F8VS35;F8VW22;F8VWK9;H0YHL3;Q9Y6K5 AB044545;ABBA01019941;AC004551;AF063613;AF251351;AK000608;AK292949;AMYH01004757;BC012015;BC113746;BG390192;BG765554;BM474470;BU558279;BU860096;CH471054;HC085308;HC195039;NM_006187;W47620 AAD28543;AAI13747;BAB18647;BAF85638;CBI67637;CBI70412;EAW98024;EAW98025;NP_006178;Q9Y6K5 Hs.528634;Hs.744211 1793842;5037552 D8S2279;PMC299790P2 MGC133260;p100 (2-5')oligo(A) synthase 3;(2-5')oligo(A) synthetase 3;2'-5'-oligoadenylate synthase 3;2'-5'oligoadenylate synthetase p100;2-5A synthase 3;2-5A synthetase 3;OTTHUMP00000242115;p100 OAS;p100OAS APPROVED protein-coding ENSG00000111331 8088 04519 603351 REVIEWED 1348906 OAS2 2'-5'-oligoadenylate synthetase 2, 69/71kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 q24.2 111900657 111933911 + 113416274 113449528 + 1580863;6480464;6907045 2440675;16541075;16014697;15489334;12477932;12447867;11092454;10464285;9790745;9521856;8259037;3350819;2470369;2211721;1708818;1577824;19559055;19853919;21050126;20588308;11682059;19923450;21832049;21906983;22589738;9880569;23149075 4939 F8VPI5;F8W1C5;P29728;Q7Z6D0 ABBA01019942;AC004551;AF074990;AK292796;AK292906;AMYH01004757;BC010625;BC023637;BC049215;BC053870;BC069052;BE885222;BQ213828;CH471054;M87284;M87434;NG_029692;NM_001032731;NM_002535;NM_016817 AAA60606;AAA60607;AAH10625;AAH23637;AAH49215;AAH53870;AAH69052;BAF85485;BAF85595;EAW98026;EAW98027;NP_001027903;NP_002526;NP_058197;P29728 Hs.414332 1661157;1661375;1768985;1853867;2111119;2142196;2143623;5491537 D12S1888;D12S1895;D12S282E;G12115;G12118;MARC_17379-17380:1021990470:1;RH1608;RH70019 MGC78578 (2'-5')oligo(A) synthetase 2;(2-5')oligo(A) synthase 2;(2-5')oligo(A) synthetase 2;2'-5'-oligoadenylate synthase 2;2'5' oligoadenylate synthetase 2;2-5A synthase 2;2-5A synthetase 2;OTTHUMP00000242125;OTTHUMP00000242132;OTTHUMP00000242133;p69 OAS / p71 OAS;p69OAS / p71OAS APPROVED protein-coding ENSG00000111335 8087 04518 603350 REVIEWED 733111 OAZ1 ornithine decarboxylase antizyme 1 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase and accelerates its degradation. [provided by RefSeq, Jul 2008] 19 19 p13.3 2220520 2224487 + 2269520 2273487 + 1580863;6480464;7244195 21849468 7813017;18029348;18089576;17900240;17761941;17630775;16713569;16373339;16061000;15670771;15476163;15355308;15057824;12477932;12426106;12359729;10781034;10473601;9426243;9132164;8954789;8185631;8001569;7811704;2724368;20029029;19635796;20185758;15491992;20861309;11571290;21552531;22008221;18062773;21931692;22157018 4946 J3QQY4;J9JID2;K7ERW1;P54368 ABBA01002715;ABBA01002716;AC004152;AK307221;AL542477;AMYH01009278;AY865622;BC007247;BC010063;BC013037;BC042364;BC053360;BC055397;BC081537;BC093652;BC100291;BC112133;BI667301;CH471139;D78361;D87914;D89870;NM_004152;U09202 AAA82154;AAA82155;AAC02802;AAC02803;AAH93652;AAI12134;AAW56074;BAA11373;BAA11374;BAA13497;BAA23101;EAW69393;EAW69394;EAW69395;NP_004143;P54368 Hs.446427 1740037;1797160;2159341 D19S850;OAZ1;RH71137 AZI;MGC138338;OAZ ODC-Az;antizyme 1;ornithine decarboxylase antizyme 1 APPROVED protein-coding ENSG00000104904 8095 03346 601579 REVIEWED 1347463 OAZ3 ornithine decarboxylase antizyme 3 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. In contrast to antizymes 1 and 2, which are widely expressed throughout the body, the expression of this gene product (antizyme 3) is restricted to testis germ cells, and thus it is a possible candidate for heritable forms of human male infertility. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 1 q21.3 124850058 124858481 + 150005755 150010429 + 151735445 151743806 + 1580863;6480464;7244195 21849468 10781085;16542438;15642376;15355308;14702039;12477932;10781034;11438941;17207965;18062773;21712390 51686 H0Y7Y4;J3QLT2;Q5SZR7;Q6GMR0;Q9UMX2 ABBA01049404;AF175296;AK125876;AL589765;AMYH01001394;AMYH01001395;AY713300;BC073949;BC128558;BC128559;CH471121;NM_001134939;NM_016178 AAD51734;AAH73949;ADQ31982;EAW53413;EAW53414;NP_001128411;NP_057262;Q9UMX2 Hs.713789 5113269 RH92576 AZ3;OAZ-t;TISP15 ODC-Az 3;OTTHUMP00000015258;antizyme 3;ornithine decarboxylase antizyme 3 APPROVED protein-coding ENSG00000143450 8097 18670 605138 REVIEWED 1344023 OAZ2 ornithine decarboxylase antizyme 2 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase but does not accelerate its degradation. [provided by RefSeq, Jul 2008] 15 15 15 q22.31 41857387 41873073 - 62766829 62782507 - 64979773 64995462 - 1580863;6480464;7244195 21849468 9428668;17353931;15355308;12477932;12359729;10781034;10352227;9782076;8889548;19960435;22008221;19322201 4947 J3KRW5;J3KS80;J3QLV9;O95190 ABBA01038876;AC090543;AC100830;AF057297;AF242520;AF242521;AMYH01006711;BC035493;BC047755;BC063577;BC073877;BC092483;BC119629;BC119630;BC127630;BC127631;BC148316;BM686393;BX648172;CH471082;NM_002537 AAD03265;AAF99601;EAW77690;EAW77691;EAW77692;NP_002528;O95190 Hs.74563 1697538;2117550;2133339;2186794;5014029;5020946;5020948;5037552;5109281 1830;D13S1639;D1S1425;D8S2279;G35510;L17971;RH102275;RH41813;RH78675 AZ2 ODC-Az 2;ornithine decarboxylase antizyme 2 APPROVED protein-coding ENSG00000180304 8096 11966 604152 REVIEWED 6481028 OBSCN-IT1 OBSCN intronic transcript 1 (non-protein coding) 100874316 AL353593 miscrna 41941 6481018 OBSCN-IT2 OBSCN intronic transcript 2 (non-protein coding) 100874304 AL670729 miscrna 41411 1350711 OAT ornithine aminotransferase This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010] 10 10 q26 126075862 126097441 - 126085872 126107545 - 1600292;1580863;6480464;6907045;7240710 3339136 3456579;17353931;2793865;16713569;16096275;15489334;12477932;9878407;9514741;9309222;7932736;7887415;7668253;6462326;3816496;3754226;3596985;3375240;3170546;2507357;2373169;2363680;22674428;21319273;1737786;1682785;1618792;1612597;16169070;20877624;20602615;19615732;22989455;23106098;23076989;22182799;17314511;20186120;21081666;17623298;21139048;21890473;21900206;21906983;22304920;22586326;22939629;17676665;22268729 4942 P04181;Q59HE2 AB208817;ABBA01034142;AK296032;AK312561;AK315947;AL445237;AMYH01003154;BC000964;BC016928;CH471066;CR457045;CR749808;DB459793;M12267;M14963;M23204;M29927;M88760;NG_008861;NM_000274;NM_001171814;R37569;S66418;S66421;Y07511 AAA36386;AAA59956;AAA59957;AAA59958;AAA59959;AAB20297;AAB20298;AAH00964;AAH16928;ADZ15368;BAD92054;BAG35458;BAH12241;BAH14318;CAA68809;CAG33326;CAH18668;EAW49271;EAW49272;NP_000265;NP_001165285;P04181 Hs.523332 1339713;1656748;1745911;2185119;5022578;5037552 D10S1656;D1S1423;D8S2279;GDB:682523;RH1578;RH17677 DKFZp781A11155;GACR;HOGA;OATASE;OKT OTTHUMP00000020690;gyrate atrophy;ornithine aminotransferase, mitochondrial;ornithine delta-aminotransferase;ornithine--oxo-acid aminotransferase;ornithine-delta-aminotransferase;ornithine-oxo-acid aminotransferase APPROVED protein-coding ENSG00000065154 8091 02021 258870;613349 REVIEWED 1318443 OASL 2'-5'-oligoadenylate synthetase-like 12 12 q24.2 119942478 119961163 - 121458095 121477045 - 1580863;6480464 9826176;7776974;18029348;18571276;16541075;16235172;15489334;14728690;14702039;12477932;10087211;9722630;776974;21203500;20581827;20588308;18931074;19559055;20074559;20379614;20889853;21050126;20506645;19203244;22531715;11827452;16344560;21943158;22586326;21987572;21963094;21988832;22939635 8638 H0YGP3;Q15646 ABBA01020149;AC079602;AJ225089;AK023956;AK314419;AL711263;AMYH01004807;AW069118;BC117408;BC117410;BG339739;BG744291;BM909951;BM918192;CH471054;DB005346;JQ792168;L40387;NM_001261825;NM_003733;NM_198213 AAC41733;AAI17409;AAI17411;ADR83055;AFJ00074;BAG37039;BAG51241;CAA12396;EAW98235;EAW98236;EAW98237;EAW98238;NP_001248754;NP_003724;NP_937856;Q15646 Hs.118633 1746481;1793536;2106905;2106907;2106909;2106911;2106913;2106915;2106917;2109595;2163688 G64627;OASL_8839;PGOS01;PGOS02;PGOS06b;PGOS3UT;PGOS5UT01;PGOS5UT02;PGOS5UT03;PMC229255P2;RH65656 OASLd;TRIP-14;TRIP14;p59 OASL;p59-OASL;p59OASL 2'-5'-OAS-RP;2'-5'-OAS-related protein;2'-5'-oligoadenylate synthase-like protein;59 kDa 2'-5'-oligoadenylate synthase-like protein;59 kDa 2'-5'-oligoadenylate synthetase-like protein;OTTHUMP00000207044;OTTHUMP00000207045;TR-interacting protein 14;TRIP-14;p59 OASL;thyroid receptor-interacting protein 14 protein-coding ENSG00000135114 8090 04473 603281 VALIDATED 1606848 OC90 otoconin 90 8 8 8 q24.22 129212212 129247331 - 133105910 133131298 - 133036467 133071627 - 6480464 10329003;9860971;8382789;15188402 729330 Q02509 ABBA01014213;AC092817;AC100868;AK297911;AMYH01019035;NM_001080399 AAI60180;BAG60230;NP_001073868;Q02509 Hs.653174 1707848;1764437 SHGC-148026;SHGC-82157 PLA2L OTTHUMP00000179158;OTTHUMP00000227190;OTTHUMP00000244306;otoconin-90;phospholipase A2 homolog;phospholipase A2-like protein-coding ENSG00000253117;ENSG00000258417 8100 601658 VALIDATED 1345410 OCD1 obsessive-compulsive disorder 1 7240710 4949 8102 164230;607834 1313785 OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009] 10 10 10 q24.33 99377215 99418065 - 105632290 105667956 - 105637316 105678045 - 737633;1580863;6480464 12477932 19119139;17903301;16189514;15489334;15164054;14702039;22763445;21460842;17207965;16385451;19648609;19854130;20421499;8125298;16751776;20133760;21832049;23535734;18029348;22863775;21139048;21906983;23142664;22964711;23001564;22797925 79991 Q9H668 ABBA01063090;AK026212;AK057720;AL133355;AMYH01003031;AMYH01003032;BC017400;CH471066;NM_024928 AAH17400;ADQ32696;BAB15396;EAW49619;EAW49620;NP_079204;Q9H668 Hs.62314 1645310;1698996;1716523;1726449;2126715;2133764 G62604;RH103069;RH121547;SHGC-57644;SHGC-58247;WI-14778 AAF-44;AAF44;FLJ22559;RP11-541N10.2;RPA-32;STN1;bA541N10.2 CST complex subunit STN1;OTTHUMP00000020417;OTTHUMP00000020418;alpha accessory factor 44;oligonucleotide/oligosaccharide-binding fold-containing protein 1;replication protein A 32 kDa subunit;suppressor of cdc thirteen homolog APPROVED protein-coding 26200 14872 613128 VALIDATED 1344089 OBP2A odorant binding protein 2A This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q34 108955036 108958682 + 137577806 137581636 + 138437985 138441815 + 1580863;6480464 10607840;16546182;16461020;15489334;12477932;12379593;12044155;11058764;23267103 29991 F2Z2D7;F5H159;Q5T8A4;Q5T8A5;Q9NY56 ABBA01030037;AI219510;AJ251021;AJ251022;AJ251023;AJ251024;AJ251029;AL161452;AM087898;AMYH01021839;BC069563;CH471090;NG_029693;NM_014582 AAH69563;CAB71318;CAB71319;CAB71320;CAB71321;CAB71326;CAJ32623;EAW88158;EAW88159;EAW88160;EAW88161;EAW88162;NP_055397;Q9NY56 Hs.567489 OBP;OBP2C;OBPIIa;hOBPIIa OTTHUMP00000022541;OTTHUMP00000022542;OTTHUMP00000022543;OTTHUMP00000022544;OTTHUMP00000237792;OTTHUMP00000237793;odorant-binding protein 2a;odorant-binding protein IIa;putative odorant-binding protein 2c APPROVED protein-coding ENSG00000122136 23380 01253 164320 REVIEWED 5686923 OCIAD1-AS1 OCIAD1 antisense RNA 1 p11 11329013 100861517 AC079927;AI018597;BG200457 Hs.661065 APPROVED miscrna 40751 1349620 OCIAD2 OCIA domain containing 2 4 4 4 p11 49335798 49357208 - 48582162 48603572 - 48887405 48908815 - 737633;6480464 12477932 16341674;17054434;21832049;22939629;21139048;22726067;22505724 132299 D6RD77;J3KPI9;Q56VL3 ABBA01014355;AC020593;AC105444;AK298305;AMYH01014163;AY472117;BC032808;BM782144;CH471069;CR749310;FB746707;NM_001014446;NM_152398 AAH32808;AAS47684;BAG60559;CAH18165;CAT04674;EAW93075;EAW93076;EAW93077;NP_001014446;NP_689611;Q56VL3 Hs.95835 1646780;2174376;5112377 D4S1183;RH104446;SHGC-59216 DKFZp686C03164;MGC45416 OCIA domain-containing protein 2;OTTHUMP00000158790;OTTHUMP00000218840;OTTHUMP00000218841;ovarian carcinoma immunoreactive antigen;ovarian carcinoma immunoreactive antigen-like protein protein-coding ENSG00000145247 28685 14873 VALIDATED 1343681 OCIAD2P1 OCIA domain containing 2 pseudogene 1 8 8 q21.13 77485162 77485775 - 81480200 81480813 - 100287085 ABBA01004061;AC009812;AMYH01018828;NG_017000 APPROVED pseudo 31827 INFERRED 1347589 OBP2B odorant binding protein 2B 9 9 9 q34 106622026 106625988 - 135070487 135074449 - 136080666 136084628 - 1580863;6480464 10607840;15489334;15164053;12975309;12477932;12044155;3388043;19850743;23267103 29989 C9J395;Q9NPH6 ABBA01032468;AJ251025;AJ251026;AJ251027;AJ251028;AL732364;AL772161;AMYH01021798;AMYH01021799;AW513637;AY358981;BC096717;BC098125;BC098151;BC098340;BX101545;CH471090;NM_014581 AAH96717;AAH98125;AAH98151;AAH98340;AAQ89340;CAB71322;CAB71323;CAB71324;CAB71325;EAW88048;EAW88049;EAW88050;EAW88051;EAW88052;NP_055396;Q9NPH6 Hs.449629 MGC119022;hOBPIIb OBPIIb;OTTHUMP00000022463;OTTHUMP00000022464;odorant-binding protein 2b;odorant-binding protein IIb protein-coding ENSG00000171102 23381 05209 604606 VALIDATED 1352949 OCA2 oculocutaneous albinism II This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. [provided by RefSeq, Jul 2008] 15 15 q 25673616 26018053 - 28000021 28344458 - 1580863;6480464;7240710 22561518;7601462;8302318;8421497;19472299;19384953;19382693;19340012;19320733;19208107;19116314;19060277;18839200;18683857;18680187;18676680;18650849;18636124;18563784;18528436;18483556;18463683;18326704;18252222;18252221;18093281;17960121;17952075;17767372;17619204;17570052;17568986;17236130;16453125;16417222;15889046;15712365;15489334;15262401;12876664;12817591;12727022;12713581;12579416;12477932;12469324;12163334;12028586;11601658;11310796;11179026;10987646;10671067;10649493;10094567;9259203;8875191;7920637;7874125;7762554;1773534;1509264;1415228;19170196;19625176;19626598;19692168;19710684;19772629;19865097;20019752;20221248;20308648;20379614;20457063;20801516;19913121;20585627;20628086;20629734;20301410;21085994;20861488;23548203;21541274;23165166;21979861;22042571;23103111;23063908;22645275;23118974 4948 C9JDV3;C9JLG9;Q04671 ABBA01044296;ABBA01044297;ABBA01044298;ABBA01044299;ABBA01044300;ABBA01044301;ABBA01044302;ABBA01044303;AC079090;AC090696;AC124091;AC135329;AMYH01006496;BC012097;CH471151;M97901;M99564;NG_009846;NM_000275;U19152;U19153;U19154;U19155;U19156;U19157;U19158;U19159;U19160;U19161;U19162;U19163;U19164;U19165;U19166;U19167;U19168;U19169;U19170;U19171;U19172;U19173;U19174;U19175;U19176 AAA36430;AAA36477;AAC13783;AAC13784;AAH12097;EAW57661;EAW57662;EAW57663;NP_000266;Q04671 Hs.654411 1337190;1341048;1724065;1727613;1745051;1745053;1745055;1745057;1745059;1745061;1745063;1745065;1745067;1745069;1745071;1745073;1745075;1745083;1745085;1745087;1745089;1745093;1745095;1764375;1765721;1773162;1775864;1783272;1853873;1853875;2125839;2142087;2148784;2148786;2185516;5016528;5022865;5095328;5095330;5095332;5095334;5095336;5117642;5117644;7187524 D15S1250;D15S144;D15S156;D15S217;D15S661;D15S931;G63215;GDB:593271;GDB:593274;GDB:593280;GDB:593284;GDB:593290;GDB:593293;GDB:593377;GDB:593381;GDB:593391;GDB:593466;GDB:593504;GDB:593534;GDB:593548;GDB:593558;GDB:593798;GDB:593820;GDB:593842;GDB:593865;GDB:593876;GDB:593922;GDB:593931;GDB:593955;L29654;OCA2_Exon_11;OCA2_Exon_14;OCA2_Exon_15;OCA2_Exon_18;OCA2_Exon_21;OCA2_Exon_6;RH119044;RH69210;SGC32570;SHGC-12468;SHGC-147969;SHGC-149153;SHGC-156027;WI-15852 BEY;BEY1;BEY2;BOCA;D15S12;EYCL;EYCL2;EYCL3;HCL3;P;PED;SHEP1 OTTHUMP00000159102;OTTHUMP00000159103;P protein;eye color 2 (central brown);eye color 3 (brown);hair color 3 (brown);melanocyte-specific transporter protein;oculocutaneous albinism II (pink-eye dilution homolog, mouse);pink-eyed dilution protein homolog;total brown iris pigmentation APPROVED protein-coding ENSG00000104044 8101 01945 203200;227220;611409 REVIEWED 1603010 OCEL1 occludin/ELL domain containing 1 19 19 19 p13.11 17238595 17241568 + 17198055 17201028 + 17337055 17340028 + 6480464 15489334;14702039;12477932;17207965;21832049 79629 M0QXM2;M0QY63;M0QZ32;M0QZ36;M0QZZ7;M0R0F7;M0R0L3;M0R1A4;Q9H607 ABBA01051187;AC010646;AF109191;AK026362;AMYH01009570;BC004121;BC029361;BC038945;CH471106;NM_024578 AAH04121;AAH29361;AAQ13501;ADQ32267;BAB15460;EAW84577;EAW84578;EAW84579;NP_078854;Q9H607 Hs.422676 1776551;2146369;5016851 D19S1138;RH16254;RH80031 FLJ22709;FWP009;S863-9 occludin/ELL domain-containing protein 1 protein-coding ENSG00000099330 26221 08004 PROVISIONAL 1603688 OBSL1 obscurin-like 1 Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010] 2 2 2 q35 214185413 214206231 - 220123708 220144255 - 220415450 220436268 - 6480464;7240710 17289344;19481195;18477606;15489334;14702039;12477932;12168954;9734811;9110174;8619474;20562859;19877176;8681137;21737058;20797700;21903422;21572988;21139048;22156540;20301654;15174051;23018678;20498229 23363 A4KVA4;A6NN50;A8MSZ8;E7ER99;H0Y684;J3KN49;O75147;Q9H8B3 AB014557;ABBA01023840;AC009955;AF035292;AK023854;AK025946;AK299261;AMYH01011509;BC007201;BC061909;CK904385;DB475523;EF063637;EF063638;F30329;NG_016977;NM_001173408;NM_001173431;NM_015311 AAH07201;AAH61909;ABO42327;ABO42328;BAA31632;BAB14704;BAH12981;NP_001166879;NP_001166902;NP_056126;O75147 Hs.526594 1698420;1800132;1801616;1804322;1804662;1804986;1808422;1810902;1813510;1813934;1815936;1817534;1818132;1818206;1818466;1818714;1818984;1821174;1822856;1824232;1824378;1824928;1832146;1835632;1838238;1840924;1846546;1964898;1964900;1964902;1964904;1964906;1964908;1964910;1964912;1964914;1964916;1964918;1964920;1964922;1964924;1964926;1964928;1964930;1964932;1964934;1964936;1964938;1964940;1964942;1964944;1964946;1964948;1964950;1964952;1964954;1964956;1964958;1964960;1964962;1964964;1964966;1964968;1964970;1964972;1964974;1964976;1964978;1964980;1964982;1964984;1964986;1964988;1964990;1964992;1964994;1964996;1964998;1965000;1965002;1965004;1965006;1965008;1965010;1965012;1965014;1965016;1965018;1965020;1965022;1965024;1965026;1965028;1965030;1965032;1965034;1965036;1965038;1965040;1965042;1965044;1965046;1965048;1965050;1965052;1965054;1965056;1965058;1965060;1965062;1965064;1965066;1965068;1965070;1965072;1965074;1965076;1965078;1965080;1965082;1965084;1965086;1965088;1965090;1965092;1965094;1965096;1965098;1965100;2143057;2214060;2214062;2214064;2214066;2214068;2214070;2214072;2214074;2214076;2214078;2214080;2214082;2214084;2214086;2214088 D10S2362;ECD00922;ECD01686;ECD03085;ECD03263;ECD03433;ECD05192;ECD06449;ECD07776;ECD07994;ECD09008;ECD09817;ECD10122;ECD10160;ECD10294;ECD10421;ECD10557;ECD11664;ECD12516;ECD13213;ECD13287;ECD13563;ECD17211;ECD18972;ECD20291;ECD21655;REN53323;REN53324;REN53325;REN53326;REN53327;REN53328;REN53329;REN53330;REN53331;REN53332;REN53333;REN53334;REN53335;REN53336;REN53337;REN53338;REN53339;REN53340;REN53341;REN53342;REN53343;REN53344;REN53345;REN53346;REN53347;REN53348;REN53349;REN53350;REN53351;REN53352;REN53353;REN53354;REN53355;REN53356;REN53357;REN53358;REN53359;REN53360;REN53361;REN53362;REN53363;REN53364;REN53365;REN53366;REN53367;REN53368;REN53369;REN53370;REN53371;REN53372;REN53373;REN53374;REN53375;REN53376;REN53377;REN53378;REN53379;REN53380;REN53381;REN53382;REN53383;REN53384;REN53385;REN53386;REN53387;REN53388;REN53389;REN53390;REN53391;REN53392;REN53393;REN53394;REN53395;REN53396;REN53397;REN53398;REN53399;REN53400;REN53401;REN53402;REN53403;REN53404;REN53405;REN53406;REN53407;REN53408;REN53409;REN53410;REN53411;REN53412;REN53413;REN53414;REN53415;REN53416;REN53417;REN53418;REN53419;REN53420;REN53421;REN53422;REN53423;REN53424;RH102755;RH11732;stSG633085;stSG633087;stSG633088;stSG633089;stSG633090;stSG633091;stSG633093;stSG633094;stSG633095;stSG633096;stSG633097;stSG633098;stSG633099;stSG633100;stSG633102 3M2;KIAA0657;MGC71026 OTTHUMP00000065227;OTTHUMP00000065228;OTTHUMP00000065424;OTTHUMP00000199573;obscurin-like protein 1 APPROVED protein-coding ENSG00000124006 29092 610991;612921 REVIEWED 1350275 OCP1 organ of Corti protein 1 4930 8106 1351024 OCIAD1 OCIA domain containing 1 4 4 4 p11 49281441 49312217 + 48527772 48558589 + 48833060 48863834 + 6480464 18328549;16344560;16341674;14702039;12477932;11162530;20877624;17213182;20515946;23284715;22939629;16196087;21139048;21890473;21906983;22081784;22726067;22797925 54940 D6R918;D6R9T5;D6RA54;D6RBC5;D6RBN5;D6RC55;D6RDI5;D6RDK1;D6RDK6;D6RF01;D6RF07;D6RG39;D6RI08;D6RIT9;D6RIV2;Q9NX40 ABBA01014355;AC079927;AF251296;AF323665;AF324350;AI038315;AK000462;AK123529;AK297864;AL519557;AL539411;AL555289;AMYH01014163;BC003409;BC088361;BI549536;BM819316;BM999322;BQ272551;CD515566;CH471069;DA037995;DB064148;DT215975;H09533;NM_001079839;NM_001079840;NM_001079841;NM_001079842;NM_001168254;NM_017830 AAG44596;AAG45220;AAH03409;AAH88361;AAK12121;ADZ15811;BAA91181;BAG60193;EAW93070;EAW93072;EAW93073;NP_001073308;NP_001073309;NP_001073310;NP_001073311;NP_001161726;NP_060300;Q9NX40 Hs.518750 1673020;1678767;1684357;1689490;1690974;2117535 G19660;NIB1159;RH10469;RH41412;RH93430;SHGC-59724 Asrij;FLJ20455;MGC111072;OCIA;TPA018 OCIA domain-containing protein 1;OTTHUMP00000128288;OTTHUMP00000218760;OTTHUMP00000218761;OTTHUMP00000218762;OTTHUMP00000218763;OTTHUMP00000218776;OTTHUMP00000221265;OTTHUMP00000221267;OTTHUMP00000221268;OTTHUMP00000221269;OTTHUMP00000221270;OTTHUMP00000221283;OTTHUMP00000221286;OTTHUMP00000221287;OTTHUMP00000223210;OTTHUMP00000223211;OTTHUMP00000223295;OTTHUMP00000223296;OTTHUMP00000223297;OTTHUMP00000223298;OTTHUMP00000223299;ovarian carcinoma immunoreactive antigen protein-coding ENSG00000109180 16074 17654 VALIDATED 737583 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q42.13 226462484 226633198 + 228395831 228566575 + 6480464 11448995;12527750;11717165;18350308;17720975;17716621;17382936;17360660;16710414;16625316;16344560;16205939;15489334;15185077;15146197;15013951;14702039;12631729;12477932;11814696;10997877;22573887;22441987;11756498;12376548;12787561;16962094;18029348;19258391;20379614;20489725;17549794;18782775;22251166;20467438;23537643 84033 A6NGQ3;F8W8T3;H0Y411;H3BPW6;H3BPX2;H3BQA7;H7BY31;Q96AA2 AB046776;AB046859;ABBA01005833;AJ002535;AJ314896;AJ314898;AJ314900;AJ314903;AJ314904;AJ314905;AJ314906;AJ314907;AJ314908;AK024186;AK097489;AL353593;AL359510;AL670729;AL832357;AL833724;AM231061;AMYH01001792;AMYH01001793;AMYH01001794;BC034746;BC043916;BC098118;BC098262;BC098292;BC099731;BC114382;BC114461;BU180714;CH471098;CN302348;DB163213;DB445363;DQ400343;NG_032122;NM_001098623;NM_001271223;NM_052843 AAH98118;AAH98262;AAH98292;AAH99731;AAI14383;AAI14462;ABD63255;BAB13382;BAB13465;CAC44768;CAC85745;CAC85746;CAC85747;CAC85750;CAC85751;CAC85752;CAC85753;CAC85754;CAC85755;CAH56259;CAJ76912;EAW69866;EAW69867;NP_001092093;NP_001258152;NP_443075;Q5VST9 Hs.650039;Hs.656999 1762833;1775955;1858327;5493539 SHGC-146605;SHGC-76456;SHGC-76459;UniSTS:487117 ARHGEF30;DKFZp666E245;FLJ14124;KIAA1556;KIAA1639;MGC120409;MGC120410;MGC120411;MGC120412;MGC138590;UNC89 OTTHUMP00000037764;obscurin;obscurin, myosin light chain kinase;obscurin-MLCK;obscurin-RhoGEF;obscurin-myosin light chain kinase APPROVED protein-coding ENSG00000154358 15719 08594;10551 608616 REVIEWED 1352743 OCSTAMP osteoclast stimulatory transmembrane protein 20 20 20 q13.12 41880995 41890661 - 44603075 44612620 - 45169585 45179213 - 6480464 11181995;18064667 128506 Q9BR26 ABBA01052680;AL034424;AMYH01011944;CH471077;NM_080721 EAW75730;EAW75731;NP_542452;Q9BR26 2148156 WI-17691 C20orf123;OC-STAMP;dJ257E24.3 OTTHUMP00000031207;osteoclast stimulatory transmembrane protein;transmembrane protein C20orf123 APPROVED protein-coding ENSG00000149635 16116 PROVISIONAL 1352488 ODCP ornithine decarboxylase pseudogene 7 q31-qter 128668552 128671091 + 17900240 4954 AACC02000035;ABBA01057647;AC018639;AMYH01017926;CH236950;NG_027864 ODC2 pseudo 8110 INFERRED 1344734 OCLM oculomedin The protein encoded by this gene is induced by cyclic mechanical stretching in trabecular cells of the eye and it is also expressed in retina. This protein may play a role in trabecular meshwork function and the development of glaucoma. [provided by RefSeq, Jul 2008] 1 1 1 q25 159480416 159481299 + 184636327 184637210 + 186369704 186370587 + 1580863 15489334;10362512;12868032;12655282;12477932;11129344 10896 Q9Y5M6 ABBA01027704;AF142063;AL596220;AMYH01001562;BC069096;BC093987;BC093989;CH471067;NM_022375 AAD43676;AAH69096;AAH93987;AAH93989;EAW91210;EAW91211;NP_071770;Q9Y5M6 Hs.679230 2126689;2219226;2220362 OCLM__6101;UniSTS:480712;UniSTS:495134 TISR oculomedin;trabecular meshwork inducible stretch response protein;trabecular meshwork-inducible stretch response protein APPROVED protein-coding ENSG00000262180 8103 16054 604301 REVIEWED 737307 OCM oncomodulin Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5879996 5885563 + 5886955 5892520 + 5920429 5925994 + 1580863;6480464;7204685 20943758 8354278;16344560;12853948;12477932;11181995;8611623;1559707;2306116;3179268;21084621;21734401 654231 P0CE72 ABBA01039483;AC004983;AMYH01017009;BC069468;BC069512;BC069550;BC113704;BC113706;BC147028;BC147029;CB045979;CH471144;DB339645;L20345;L20346;L20347;L20348;NM_001097622 AAA02869;AAH69468;AAH69512;AAH69550;AAI13705;AAI13707;AAI47029;AAI47030;ADR83469;EAW87352;NP_001091091;P0CE72 Hs.571315 1680691;1689660;5120243 GDB:217597;RH40682;RH78909 MGC142264;MGC142266;MGC97453;MGC97465;MGC97477;OCM1;OM;ONCM OTTHUMP00000208112;OTTHUMP00000208113;hCG18255;oncomodulin 1;oncomodulin-1;parvalbumin beta APPROVED protein-coding ENSG00000122543 8105 164795 VALIDATED 732985 OCLN occludin This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011] 5 5 q13.1 68823875 68885889 + 68788119 68853931 + 1359811;1580863;6480464;6484113;6907045;7240710 10548451 20463075;19125584;19114660;19073886;19052094;19017651;18802961;18782596;18560860;18550469;18489585;18474622;18397460;18386163;18276783;18029348;18005733;17962811;17855770;17635647;17553883;17359339;17283368;17243118;17038551;16959951;16924233;16616143;16207910;16134968;16081103;15806147;15761153;15659655;15622522;15500294;15489334;15472219;15069537;14991532;14512431;12932229;12804768;12728017;12668723;12667324;12477932;12419305;12184633;12169098;12118072;12071155;11950934;11878825;11782481;11710912;11700038;11679090;11502742;11228248;10601346;10591624;10581193;10575001;10497311;10026224;9792688;9531559;9243183;9212730;9175707;7798316;10749869;8601611;19437620;19332538;19182773;19174516;21415414;22761434;22711802;15372022;17525332;18318008;19054851;11181995;15252450;20663912;20164257;19438816;20727516;20822789;20844048;20878095;18662404;20504882;15054114;19184677;19515778;19538290;19661441;19756380;20028514;20152177;12639940;16344560;20937238;22134947;21536752;19478092;21551950;21632765;20003786;21806988;21857898;22135309;21139048;21890473;21906983;21956164;21821450;22197032;22927233;23390516;23503679;23000965;23220562;23155001;15977641;18329007;18574677;18667611;21641584;21858117;22053931;22448134;22591361 100506658 A8K3T2;Q8N6K1 AB451306;AB451437;ABBA01048265;ABBA01048266;ABBA01048267;ABBA01167603;AC142525;AC145146;AC147575;AF400630;AI093221;AK290697;AK311037;AK313501;AMYH01015146;AMYH01015147;AMYH01015148;AMYH01015149;AMYH01015150;AMYH01015151;AMYH01015152;AMYH01015153;AMYH01015154;AMYH01015155;AMYH01015156;AMYH01015157;AMYH01015158;AMYH01015159;AMYH01015160;AMYH01015161;AMYH01015162;AMYH01015163;AMYH01015164;AMYH01015165;AMYH01015166;AMYH01015167;AMYH01015168;AMYH01015169;AMYH01015170;AMYH01015171;AMYH01015172;AMYH01015173;AMYH01015174;AMYH01015175;AMYH01015176;AMYH01015177;AMYH01015178;AMYH01015179;AMYH01015180;AMYH01015181;AMYH01015182;AMYH01015183;AMYH01015184;AMYH01015185;AMYH01015186;AMYH01015187;AMYH01015188;AMYH01015189;AMYH01015190;AMYH01015191;AMYH01015192;AMYH01015193;AMYH01015194;AMYH01015195;AMYH01015196;AMYH01015197;AMYH01015198;AMYH01015199;AMYH01015200;AMYH01015201;AMYH01015202;AMYH01015203;AMYH01015204;AMYH01015205;AMYH01015206;AMYH01015207;AMYH01015208;AMYH01015209;AMYH01015210;AMYH01015211;AMYH01015212;AMYH01015213;AMYH01015214;AMYH01015215;AMYH01015216;AMYH01015217;AMYH01015218;AMYH01015219;AMYH01015220;AMYH01015221;AMYH01015222;AMYH01015223;AMYH01015224;AMYH01015225;AMYH01015226;AMYH01015227;AMYH01015228;AMYH01015229;AMYH01015230;AMYH01015231;AMYH01015232;AMYH01015233;AMYH01015234;AMYH01015235;AMYH01015236;AMYH01015237;AMYH01015238;AMYH01015239;AMYH01015240;AMYH01015241;AMYH01015242;AMYH01015243;AMYH01015244;AMYH01015245;AMYH01015246;AMYH01015247;AMYH01015248;AMYH01015249;AMYH01015250;AMYH01015251;AMYH01015252;AMYH01015253;AMYH01015254;AMYH01015255;AMYH01015256;AMYH01015257;AMYH01015258;AMYH01015259;AMYH01015260;AMYH01015261;AMYH01015262;AMYH01015263;AMYH01015264;AMYH01015265;AMYH01015266;AMYH01015267;AMYH01015268;AMYH01015269;AMYH01015270;AMYH01015271;AMYH01015272;AMYH01015273;AMYH01015274;AMYH01015275;AMYH01015276;AMYH01015277;AMYH01015278;AMYH01015279;AMYH01015280;AMYH01015281;AMYH01015282;AMYH01015283;AMYH01015284;AMYH01015285;AMYH01015286;AMYH01015287;AMYH01015288;AMYH01015289;AMYH01015290;AMYH01015291;AMYH01015292;AMYH01015293;AMYH01015294;AMYH01015295;AMYH01015296;AMYH01015297;AMYH01015298;AMYH01015299;AMYH01015300;AMYH01015301;BC029886;BK001650;CH471137;DB226845;DQ786240;FJ786083;FJ786084;GQ225096;GQ225097;GQ225098;GQ402517;NG_028291;NM_001205254;NM_001205255;NM_002538;U49184;U53823 AAB00195;AAC50451;AAH29886;AAL47094;ABM83349;ABM86563;ACT53743;ACT53744;ACT83431;ACT83432;ACT83433;ACZ80515;BAF83386;BAG70120;BAG70251;DAA01837;EAW51275;EAW51276;NP_001192183;NP_001192184;NP_002529;Q16625 Hs.592605 1666248;1794292;2157821;5016478;5024756;5037552 D8S2279;GDB:434012;PMC310929P1;RH80030;STS-H94471;STS-U19251 BLCPMG;FLJ08163;FLJ18079;FLJ77961;FLJ94056;MGC34277 OTTHUMP00000125187;OTTHUMP00000222347;occludin;tight junction protein occludin;tight junction protein occludin TM4 minus APPROVED protein-coding ENSG00000197822 8104 251290;602876 REVIEWED 1350136 OCRL oculocerebrorenal syndrome of Lowe This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008] X X q25 128501933 128554214 + 128674252 128726533 + 1580863;6480464;6907045;7240710 22177125;1321346;7761412;1840503;19390221;19211563;19172411;18500547;18307981;18019214;17765681;17384968;16902405;16420990;15917292;15829501;15772651;15627218;12915445;12477932;12428211;10923037;10767176;10639484;9915833;9838104;9788721;9682219;9632163;9593760;9430698;9199559;9048911;9038219;8504307;1897526;20043897;20629659;19536138;19546591;19582483;19700499;19940034;20133602;20301653;21233288;21249396;21225285;21378754;21031565;23153494;22965764;21666675;21706022;21890473;21971085;22790198;23000965;21901156;22378746;21854507;22228094;22351770;19322201;22876375;22907655;22543976;23389333 4952 Q4VY10;Q8WWC2 ABBA01047808;ABBA01047809;ABBA01047810;ABBA01047811;ABBA01047812;ABBA01047813;ABBA01047814;ABBA01047815;ABBA01047816;ABBA01047817;ABBA01047818;AK226116;AK293107;AL022162;AL138745;AL662877;AMYH01022963;BC018003;BC025253;BC094726;BC130612;BC144106;CH471107;NG_008638;NM_000276;NM_001587;S62084;S62085;U57627;Z73496 AAB03839;AAB26926;AAD13933;AAH18003;AAH25253;AAH94726;AAI30613;AAI44107;BAF85796;EAX11830;EAX11831;EAX11832;NP_000267;NP_001578;Q01968 Hs.126357 1669446;1694338;1734116;1748209;1793618;1793620;1793624;2115466;2117481;2141744;2143562;2146610;2181330;5092580 A006N02;DXS6854;DXS8279;G42864;G54523;G66683;L77650;L78118;PMC24149P18;PMC24149P19;PMC24149P20;RH1710;RH79055;SHGC-16228 INPP5F;LOCR;NPHL2;OCRL-1;OCRL1 Lowe oculocerebrorenal syndrome protein;OTTHUMP00000024304;OTTHUMP00000024305;inositol polyphosphate 5-phosphatase OCRL-1;phosphatidylinositol polyphosphate 5-phosphatase APPROVED protein-coding ENSG00000122126 8108 02395 300535;300555;309000 REVIEWED 1625849 OCM2 oncomodulin 2 This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. [provided by RefSeq, Jul 2008] 7 7 q21.2 97451948 97457352 - 97614012 97619416 - 15610002;15489334;12853948;12583602;12477932;11329013;9847074;9405492;8611623;8354278;8077283;4005827;3558395;3179268;2306116;1559707;21658281;17207965;21044950 4951 P0CE71 AACC02000085;ABBA01045740;AC004967;AMYH01017710;CH236956;CH471091;NM_006188 AAI56842;AAQ96880;ADQ32911;EAW76722;NP_006179;P0CE71 Hs.510456 1653356;1680691;1689660;2162335;5120243 GDB:1234274;GDB:217597;OCM;RH40682;RH78909 OCM OM;OTTHUMP00000205214;oncomodulin-like;parvalbumin beta;putative oncomodulin-2 APPROVED protein-coding ENSG00000135175 34396 01274 REVIEWED 1603034 ODAM odontogenic, ameloblast asssociated 4 4 4 q13.3 68420214 68428263 + 71096833 71104882 + 71062244 71070293 + 6480464 11329013;18484335;18472969;17647262;16674676;14702039;14647039;12477932;8889549;8125298;20098747;20572917;21832049 54959 A1E959;D6RA81;H0Y8T7;H0YA46 AA025290;ABBA01022925;AC105347;AK000520;AK098169;AK225547;AMYH01014273;BC017796;BG181363;BG194365;CH471057;EF113908;NM_017855 A1E959;AAH17796;ABL11577;BAA91226;EAX05611;EAX05612;NP_060325 Hs.143811 2114303 STS-AA025291 APIN;FLJ20513 OTTHUMP00000159772;OTTHUMP00000219153;OTTHUMP00000219155;odontogenic ameloblast-associated protein protein-coding ENSG00000109205 26043 13376 614832;614843 VALIDATED 733828 ODF1 outer dense fiber of sperm tails 1 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008] 8 8 q22.3 103633036 103642422 + 103563848 103573245 + 1580863;6480464 15489334;12594206;12533418;12477932;11774369;11468777;11329013;10381817;10373309;9045620;8949892;8873064;8305202;8111388;1418683;17762160;20112736;20379614 4956 E5RH17;Q14990 ABBA01037617;AK315276;AMYH01018936;AP002851;AP002852;BC104456;BC104457;BG214987;CH471060;DB457574;M93131;M93132;NG_028006;NM_024410;X74614 AAI04457;AAI04458;CAA52685;EAW91847;EAW91848;EAW91849;NP_077721;Q14990 Hs.159274 1341155;1686614;2219230 D8S1049;ODF1__6103;RH75985 CT133;HSPB10;MGC129928;MGC129929;ODF;ODF2;ODF27;ODFP;ODFPG;ODFPGA;ODFPGB;RT7;SODF OTTHUMP00000227289;cancer/testis antigen 133;outer dense fiber of sperm tails, 27-kD;outer dense fiber protein 1 APPROVED protein-coding ENSG00000155087 8113 01687 182878 REVIEWED 731324 ODC1 ornithine decarboxylase 1 This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. [provided by RefSeq, Jul 2008] 2 2 p25 10497959 10505904 - 10580508 10588453 - 1578320;1300048;1580863;6480464;6907045;7242912;7242932;7240710;7244193 10430362;1415709;2292587;13678416 2317811;17353931;18029348;19225907;19047152;18548481;18413818;17957960;17719568;17569126;17378176;17088079;17047198;16520895;16469300;16459331;16219697;15734972;15534104;15489334;15015770;12810952;12477932;12359729;11945886;11830503;11461922;10754523;10623504;10588659;10064588;8519686;8185631;8168440;8043198;7821789;3755388;3595418;3308908;3036086;2693021;2587220;2440930;2318872;2227439;1598217;1423312;20600019;16548883;19789310;19960435;20199977;20456464;20798393;19832840;20814750;20838441;20831369;21552531;21454364;18062773;21854048;21900206;21930798;21906983;21931692;21963094;21988832;22976807;22730407 4953 C9JG30;P11926 ABBA01015615;AC007249;AK292352;AK301956;AK312766;AMYH01010103;AY841870;BC014562;BC025296;CH471053;CQ834228;D28365;DQ185043;M16650;M20372;M31061;M33764;M34157;M34158;M81740;NG_012105;NM_002539;S71124;X16277;X53271;X55362 AAA59966;AAA59967;AAA59968;AAA59969;AAA60563;AAA60564;AAH25296;AAV88093;AAY15034;ABD14423;ABM87068;ABW03841;ACE86536;ACE87215;BAA05731;BAF85041;BAG35632;BAG63370;CAA34353;CAA37369;CAA39047;CAH05329;EAX00958;EAX00959;NP_002530;P11926 Hs.467701 1667243;1679071;1741501;1793308;2132836;2162279;2190767;2219228 G07092;GDB:181255;ODC1;ODC1__6102;PMC207647P3;RH11814;RH70838;RH91096 ODC OTTHUMP00000115512;OTTHUMP00000200387;ornithine decarboxylase APPROVED protein-coding 8109 01324 114500;165640 REVIEWED 1350577 ODT1 oligodontia 1 4960 8116 1320693 ODF3 outer dense fiber of sperm tails 3 ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004] 11 11 11 p15.5 358619 362119 - 186761 190258 + 196761 200258 + 6480464 21460842;12477932;11870087;23096689 113746 B7ZLT0;F8W6Z3;Q96PU9 AB067774;ABBA01011167;AC069287;AL133658;AMYH01003275;AY713299;BC126222;BC126248;BC144022;CH471278;FJ436414;NM_053280 AAI26223;AAI26249;AAI44023;AAW83203;ACN56469;ADR82882;BAB70734;CAH10709;EAW61249;NP_444510;Q96PU9 Hs.350949 CT135;SHIPPO1;TISP50;hSHIPPO OTTHUMP00000147615;OTTHUMP00000228526;cancer/testis antigen 135;outer dense fiber of sperm tails protein 3;outer dense fiber protein 3;sperm tail protein SHIPPO 1;sperm tail protein SHIPPO1;transcript induced in spermiogenesis protein 50 APPROVED protein-coding 19905 16323 608356 PROVISIONAL 1352802 OED Oregon eye disease 2667510 4961 8118 1344475 OFC1 orofacial cleft 1 7240710 4963 8120 1347803 OFC2 orofacial cleft 2 7240710 9676424 4964 8121 1350180 OFC3 orofacial cleft 3 7240710 7668251 4965 8122 1348133 ODF3L1 outer dense fiber of sperm tails 3-like 1 15 15 15 q24.2 52942002 52945710 + 73803374 73807082 + 76016319 76020027 + 6480464 12477932;17207965 161753 Q8IXM7 ABBA01060538;AC019294;AMYH01006819;BC039862;CH471136;NM_175881 AAH39862;ADQ33013;EAW99238;NP_787077;Q8IXM7 Hs.144348 1730233 D15S139E MGC48986 OTTHUMP00000183521;outer dense fiber protein 3-like protein 1 protein-coding ENSG00000182950 28735 11360 PROVISIONAL 1606519 ODF2L outer dense fiber of sperm tails 2-like 1 1 1 p22.3 85056509 85106021 - 86587008 86634591 - 86812507 86862025 - 6480464 12477932;10574462;8889548;16169070;21832049;20360068;21139048 57489 B5ME44;E9PJZ1;E9PMV9;E9PNP0;E9PS83;G5E956;H0YCM1;H0YD68;H0YEY6;H0YF19;Q9ULJ1 AB033055;ABBA01045620;ABBA01045621;AC119749;AK302792;AK303209;AK308351;AL136382;AMYH01000764;BC009779;BC012579;BC026105;BC029420;BC047368;BC091490;BG777878;BI768058;BM971230;BM993592;BQ894001;BX499763;CD687053;CH471097;NM_001007022;NM_001184765;NM_001184766;NM_020729 AAH09779;AAH29420;AAH47368;AAH91490;BAA86543;BAG63995;BAG64299;EAW73188;EAW73189;EAW73190;EAW73191;EAW73192;NP_001007023;NP_001171694;NP_001171695;NP_065780;Q9ULJ1 Hs.149360 1706876;1751485;2140623;2146631;2184801;5014027;5020423;5115198;5118342 AL009909;D11S1053;D11S2442;D11S3206;D13S1621;SHGC-105314;SHGC-30477;SHGC-75093;SHGC-80924 KIAA1229;MGC111060;RP5-977L11.1;dJ977L11.1 OTTHUMP00000011769;OTTHUMP00000011770;OTTHUMP00000228660;OTTHUMP00000228661;outer dense fiber protein 2-like protein-coding ENSG00000122417 29225 11134 VALIDATED 1605510 OFD1P10Y OFD1 pseudogene 10, Y-linked Y Y q11.223 24137130 24170433 + 25727742 25761045 + 12815422 386694 AC009947;AC016707;AC016752;NG_004755 OFD1P10;OFD1PY10;OFDYP10 APPROVED pseudo 23882 VALIDATED 1605509 OFD1P11Y OFD1 pseudogene 11, Y-linked Y Y q11.223 24326358 24353785 + 25916970 25944397 + 12815422 386695 AC025246;NG_004755 1748367;1750793;2172955;2188939;2189067;5115884;5115892 G65825;G65921;G65988;L18173;SHGC-103584;sY1149;sY1174 OFD1P11;OFD1PY11;OFDYP11 APPROVED pseudo 23883 VALIDATED 1605508 OFD1P12Y OFD1 pseudogene 12, Y-linked Y Y q11.223 24538835 24550716 + 26129447 26141328 + 12815422 386696 AC068601;AC073893;NG_004755 OFD1P12;OFD1PY12;OFDYP12 APPROVED pseudo 23884 VALIDATED 1605507 OFD1P13Y OFD1 pseudogene 13, Y-linked Y Y q11.223 26230530 26252961 - 27821142 27843573 - 12815422 386697 AC010682;NG_004755 5116368;5116370 sY2928;sY2929 OFD1P13;OFD1PY13;OFDYP13 APPROVED pseudo 23885 VALIDATED 1605506 OFD1P14Y OFD1 pseudogene 14, Y-linked Y Y q11.23 26427366 26443516 - 28017978 28034128 - 12815422 386698 AC007965;AC017005;NG_004755 1748367;1750793;2188939;2189067;5115884 G65825;G65921;G65988;SHGC-103584;sY1149 OFD1P14;OFD1PY14;OFDYP14 APPROVED pseudo 23886 VALIDATED 1605505 OFD1P15Y OFD1 pseudogene 15, Y-linked Y Y q11.23 26625200 26644130 - 28215812 28234742 - 12815422 386699 AC006991;NG_004755 OFD1P15;OFD1PY15;OFDYP15 APPROVED pseudo 23887 VALIDATED 1349962 OFD1P16Y OFD1 pseudogene 16, Y-linked Y Y q11.223 22366922 22373747 - 23957534 23964359 - 12815422 442485 AC078938;NG_004755 2145311 DYF58S2 OFD1P16;OFD1PY16;OFDYP16 APPROVED pseudo 18213 VALIDATED 1349979 OFD1P17 OFD1 pseudogene 17 5 5 5 p13 37096049 37099545 + 37244805 37248449 + 37209101 37212597 + 9722947 23738 ABBA01024177;AC025449;AMYH01015030;NG_003023;NG_032772 71-7A3;71-7A5;C5orf1;OFD1P1 APPROVED pseudo 1332 INFERRED 1343064 OFD1P18Y OFD1 pseudogene 18, Y-linked Y Y q11.22 9992104 9992478 + 28043354 28043728 - 9722947 10751 AC007965;L18173;NG_009011 2172955 L18173 71-7A2;CYorf1;OFD1P18;OFD1PY18 APPROVED pseudo 2589 INFERRED 4110018 OFD1P19Y OFD1 pseudogene 19, Y-linked p11.2 9847074 100499439 AC068719;NG_023466 OFD1P19;OFD1PY19 pseudo 37910 731998 ODF2 outer dense fiber of sperm tails 2 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as 'Cenexins', encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010] 9 9 9 q34.11 101869240 101914039 + 130258253 130303060 + 131217434 131263571 + 6480464 20234188;10072582;18029348;19386263;16966375;15302935;14702039;12477932;11774369;10381817;9740324;9045620;16980960;20379614;16344560;21325031;21832049;20309963;21139048;21890473;21906983;22266860;22833046;22911743;23000965;19322201;22505724 4957 B3KSD5;B4DUU0;B4DX03;B4DX85;F5H5S3;F8WA12;H0Y384;H0Y4B6;O60631;Q5T4C2;Q5T4C3;Q5T4C6;Q5T4C7;Q5T4C8 ABBA01043882;ABBA01043883;AF012549;AF053970;AF109138;AK093367;AK126816;AK295662;AK299303;AK300793;AK301754;AK301842;AK301855;AK302684;AK308278;AK309917;AL359091;AL445287;AMYH01021744;AMYH01021745;AMYH01021746;AMYH01021747;AMYH01021748;AY319414;AY366499;BC010629;BC012785;BC091500;BI825445;BI831601;BM563800;BM928430;CH471090;DB044506;DB051583;DB094573;DB511337;DC397869;DC398295;DQ444713;DQ444714;NG_029568;NM_001242352;NM_001242353;NM_001242354;NM_002540;NM_153432;NM_153433;NM_153435;NM_153436;NM_153437;NM_153439;NM_153440 AAB66337;AAC08409;AAD22544;AAH10629;AAH12785;AAH91500;AAP83847;AAQ73195;ABE01856;ABE01857;ACE86758;ACE86768;ACE87454;BAG52697;BAG58524;BAG61316;BAG62452;BAG63215;BAG63285;BAG63297;BAG63914;EAW87791;EAW87792;EAW87793;EAW87794;EAW87795;EAW87796;EAW87797;EAW87798;EAW87799;EAW87800;EAW87801;NP_001229281;NP_001229282;NP_001229283;NP_002531;NP_702910;NP_702911;NP_702913;NP_702914;NP_702915;NP_702917;NP_702918;Q5BJF6 Hs.129055 1656787 STS-AA034010 CT134;FLJ44866;MGC111096;MGC9034;ODF2/1;ODF2/2;ODF84 OTTHUMP00000022274;OTTHUMP00000022275;OTTHUMP00000022276;cancer/testis antigen 134;cenexin 1;outer dense fiber of sperm tails protein 2;outer dense fiber of sperm tails, 84-kD;outer dense fiber protein 2;outer dense fibre of sperm tails 2;sperm outer dense fiber major protein 2;sperm tail structural protein APPROVED protein-coding ENSG00000136811 8114 03601 602015 REVIEWED 1604159 OFD1P1Y OFD1 pseudogene 1, Y-linked Y Y q11.222 18430473 18444108 + 19921079 19934714 + 12815422 378009 AC007742;AC095381;NG_004636 OFD1P1;OFD1PY1;OFDYP1 APPROVED pseudo 23873 VALIDATED 1604158 OFD1P2Y OFD1 pseudogene 2, Y-linked Y Y q11.222 18701890 18718085 + 20242502 20258697 - 12815422 378010 AC024183;NG_004636 1644434;5116912 DYF45S2;sY828 OFD1P2;OFD1PY2;OFDYP2 APPROVED pseudo 23874 VALIDATED 1605516 OFD1P4Y OFD1 pseudogene 4, Y-linked Y Y q11.221 19074324 19090533 - 20614936 20631145 - 12815422;9847074 386688 AC069130;AC073962;NG_004636 2187993;2188003;2189045;5022949;5022951;5116274 G65908;G66146;G66151;sY1741;sY1750;sY2861 OFD1P4;OFD1PY4;OFDYP4 APPROVED pseudo 23876 VALIDATED 1351259 OFD1P3Y OFD1 pseudogene 3, Y-linked Y Y Y p11.2 313497 319575 - 8962151 8968229 + 8902151 8908229 + 12815422;9847074 386687 ABBA01060287;ABBA01060288;AC068719;NG_003116 2145311;2188979;2188981 DYF58S2;G66016;G66017 OFD1P19;OFD1P19Y;OFD1P3;OFD1PY19;OFD1PY3;OFDYP3 APPROVED pseudo 23875 INFERRED 1605515 OFD1P5Y OFD1 pseudogene 5, Y-linked Y Y q11.221 19203237 19250453 - 20743849 20791065 - 12815422 386689 AC022486;NG_004636 1672334;1731793;2164284;2188621;5021778;5021786;5022977;5116134;5116136;5116138;5116156;5116158 DYS132;DYS207;DYS210;G66363;sY1950;sY1951;sY1967;sY1968;sY1969;sY1982;sY1983;sY1984 OFD1P5;OFD1PY5;OFDYP5 APPROVED pseudo 23877 VALIDATED 1605514 OFD1P6Y OFD1 pseudogene 6, Y-linked Y Y q11.22 19295001 19359714 + 20835613 20900326 + 12815422 386690 AC007379;NG_004636 1672334;1731793;1732561;1753015;1790913;2164284;2181405;2187895;2188619;2188621;5021778;5021786;5022977;5116134;5116136;5116138;5116156;5116158;5125216 DYS132;DYS206;DYS207;DYS210;DYS385;G65936;G66361;G66363;SHGC-13965;SHGC-78789;sY1226;sY1950;sY1951;sY1967;sY1968;sY1969;sY1982;sY1983;sY1984 OFD1P2;OFD1P6;OFD1PY6;OFDYP6 APPROVED pseudo 13657 VALIDATED 1605513 OFD1P7Y OFD1 pseudogene 7, Y-linked Y Y q11.222 19469436 19488655 + 21010048 21029267 + 12815422 386691 AC009235;NG_004636 2187993;2188003;5022949;5022951;5116274 G66146;G66151;sY1741;sY1750;sY2861 OFD1P7;OFD1PY7;OFDYP7 APPROVED pseudo 23879 VALIDATED 1605512 OFD1P8Y OFD1 pseudogene 8, Y-linked Y Y q11.223 22527746 22561219 + 24118358 24151831 + 12815422 386692 AC007322;NG_004755 OFD1P8;OFD1PY8;OFDYP8 APPROVED pseudo 23880 VALIDATED 1605511 OFD1P9Y OFD1 pseudogene 9, Y-linked Y Y q11.223 23136242 23169718 - 24726854 24760330 - 12815422 386693 AC008175;NG_004755 1748369 G65830 OFD1P9;OFD1PY9;OFDYP9 APPROVED pseudo 23881 VALIDATED 1346133 ODF4 outer dense fiber of sperm tails 4 This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8273957 8280131 + 8183913 8190088 + 8243188 8249363 + 6480464 15270212;12728016;12477932;22588436;21832049;23096689 146852 C3TX97;Q2M2E3 AB081120;ABBA01054911;AC135178;AMYH01008090;AY237799;BC112010;BC112014;CH471108;FJ235526;NM_153007 AAI12011;AAI12015;AAO89569;ACI28935;BAC15594;EAW90059;NP_694552;Q2M2E3 Hs.186045 CT134;CT136;MGC138215;MGC138219;OPPO1 OTTHUMP00000135332;cancer/testis antigen 134;cancer/testis antigen 136;hOPPO1;outer dense fiber 4;outer dense fiber of sperm tails protein 4;outer dense fiber protein 4;testis-specific protein oppo 1 APPROVED protein-coding ENSG00000184650 19056 17658 610097 REVIEWED 1606628 ODF3B outer dense fiber of sperm tails 3B 22 22 22 q13.33 34844865 34847035 - 49315721 49317874 - 50968838 50971008 - 6480464 15489334;12477932;12107413;10591208;8889548;8038210;19913121;20628086;19862010;21833088;23222517;23251661 440836 A1L1A8;A8MYP8;B5MC17;B5MCN9;B5MD02;C9JUR5 ABBA01042625;AMYH01012916;AW291097;BC127934;BC127935;BG149596;BM973820;CD674272;NG_011860;NM_001014440;S72487;U62317 A8MYP8;AAD14106;AAD14107;AAI27935;AAI27936;AAI72351;NP_001014440 Hs.531314 1744375 GDB:452618 ODF3L3 OTTHUMP00000197079;OTTHUMP00000197080;OTTHUMP00000197081;OTTHUMP00000197083;orf2 5' to PD-ECGF/TP;outer dense fiber protein 3-like protein 3;outer dense fiber protein 3B protein-coding ENSG00000177989 34388 18640 VALIDATED 1352821 OFCC1 orofacial cleft 1 candidate 1 6 6 6 p24.3 10901109 11205894 - 10004930 10168908 - 9697863 9977826 - 6480464 19367581;12477932;21145461;20585627;15218257;17903295;22507240;22479202 266553 H0Y878;H7C4X1;H7C5F4;H7C5P6;Q8IZS0;Q8IZS4;Q8IZS5;R4GNG0 ABBA01022066;ABBA01022067;ABBA01022068;ABBA01022069;ABBA01022070;ABBA01022071;ABBA01022072;AF520800;AF520801;AF520802;AF520803;AF520804;AF520805;AF520806;AF520807;AF520808;AF548113;AF548114;AF548115;AF548116;AF548117;AF548118;AF548121;AF548122;AF548123;AL021332;AL031122;AL031906;AL139332;AL159986;AL359316;AMYH01016071;AMYH01016072;AMYH01016073;AMYH01016074;AY309094;BC113541;BC113543;BC143837;CH471087;XM_003118558;XM_003119969;XM_003960365 AAI13542;AAI13544;AAI43838;AAN06675;AAN06676;AAN06677;AAN06678;AAN06679;AAN06680;AAN06681;AAN06682;AAN06683;AAN59915;AAP74970;EAW55244;EAW55245;EAW55246;Q8IZS5;XP_003118606;XP_003120017;XP_003960414 Hs.532138;Hs.544715 1336142;1342172;1679091;1699894;1703380;1714557;1723415;1743229;1766511;1781120;2154593;7185041 D6S470;D6S940;DXS8199;GDB:306049;RH103555;RH118520;RH119792;RH70751;SHGC-149829;SHGC-68683;stdJ237I13T7 MGC142101;MGC142103;MRDS1 OTTHUMP00000214079;orofacial cleft 1 candidate gene 1 protein;orofacial clefting chromosomal breakpoint region 1;orofacial clefting chromosomal breakpoint region candidate 1 protein protein-coding 21017 17659 614287 MODEL 4889285 OGFOD1P1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1 13 13 13 q14.2 30840234 30842307 - 48682351 48684424 - 49784350 49786423 - 387924 ABBA01051015;AL137000;AMYH01005107;NG_011397 2171370 WI-14349 KIAA0970 pseudo 39202 INFERRED 1322096 OGDHL oxoglutarate dehydrogenase-like 10 10 10 q11.23 44528687 44557024 - 50612717 50640375 - 50942687 50970425 - 737633;1580863;6480464;6907045 12477932 18004749;16344560;15342556;14702039;10574462;8125298;16385451;19724895;19851296;20198315;20877624;21139048 55753 Q9ULD0 AB033116;ABBA01041068;ABBA01041069;ABBA01041070;AC069546;AK001713;AK055817;AK225558;AK290226;AK296551;AK303729;AK307759;AMYH01002642;BC026320;BM504223;BP209348;BQ549806;CH471187;DA238469;DA411851;DA416844;HH961822;NM_001143996;NM_001143997;NM_018245 AAH26320;ADZ15534;BAA86604;BAA91855;BAF82915;BAG59174;BAG64705;CBX51384;EAW93080;EAW93081;EAW93082;NP_001137468;NP_001137469;NP_060715;Q9ULD0 Hs.17860 1339984;1654940;1660360 D10S1724;RH44536;STS-T96627 2-oxoglutarate dehydrogenase complex component E1-like;2-oxoglutarate dehydrogenase-like, mitochondrial;OGDC-E1-like;OTTHUMP00000019588;alpha-ketoglutarate dehydrogenase-like protein-coding ENSG00000197444 25590 07704 VALIDATED 1321058 ODF3L2 outer dense fiber of sperm tails 3-like 2 19 19 19 p13.3 342634 354102 + 414360 425983 - 463346 474983 - 15489334;14702039;12477932;21182207;18271526 284451 Q3SX64 AA935122;ABBA01002563;ABBA01002564;AC005775;AC006124;AK097378;AMYH01009184;AMYH01009185;AW082140;BC104468;BC104469;CH471242;NM_182577 AAI04469;AAI04470;BAC05028;EAW61196;NP_872383;Q3SX64 Hs.104777 1684828;5017613 C19orf19;RH92814 C19orf19;FLJ40059;MGC129962;MGC129963 outer dense fiber protein 3-like protein 2 protein-coding ENSG00000181781 26841 12700 VALIDATED 7242850 OGFR-AS1 OGFR antisense RNA 1 8889548 101409261 AL035669;CA412981;NR_102430 miscrna 40724 VALIDATED 1602867 OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 17 17 17 q25.3 76938858 76965271 - 77943389 77969751 - 80347086 80376513 - 6480464 12477932;21906983 79701 J3QLI8;J3QRG1;K7ELK1;K7ELR2;K7ENS7;Q6PK18 ABBA01019676;ABBA01019677;AC132938;AK025875;AK311057;AMYH01008732;BC008897;BC009297;BC023602;CH471099;NM_024648;NM_175902;NR_033265 AAH08897;AAH23602;BAB15267;EAW89769;EAW89770;NP_078924;NP_787098;Q6PK18 Hs.187505 1770603;2152086;2161387;2164185;2166306;2166734;5015404;5022651;5037552;5109281 D11S2921;D1S1425;D8S2279;L17705;RH36048;RH46330;RH48813;RH69745;SHGC-56624;SHGC-57268 C17orf101;FLJ22222 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3;PKHD domain-containing transmembrane protein C17orf101 APPROVED protein-coding ENSG00000181396 26174 13386 VALIDATED 1348587 OFD1 oral-facial-digital syndrome 1 This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008] X X p22 13662801 13697393 + 13752832 13787480 + 1580863;6480464;7240710 19023858;18177199;17761535;16783569;16397067;15489334;15466260;14654843;12782125;12595504;12477932;11950863;11734546;11179005;10441586;9722947;9215688;8125298;7759104;16169070;16712791;20818665;19913121;20628086;20736409;18029348;11076968;12221128;12852856;16462731;19783798;19800048;20230748;7790358;20301367;22619378;21729220;21987572;21139048;21890473;21906983;20301500;22353940;23033313;23398456;21963094;21988832 8481 A6NF31;E9KL37;O75665 ABBA01071132;ABBA01071133;ABBA01071134;ABBA01071135;ABBA01071136;AC003037;AK225847;AK289677;AK290354;AK297104;AK311067;AMYH01022096;BC012324;BC030787;BC042830;BC052809;BC062432;BC092448;BC096344;BC096345;BC099658;BC099659;CB134304;CH471074;GU727634;NG_008872;NM_003611;Y15164;Y16355 AAH42830;AAH52809;AAH62432;AAH96344;AAH96345;ADU87636;BAF82366;BAF83043;BAG59615;CAA75436;CAA76185;EAW98835;EAW98836;EAW98837;EAW98838;EAW98839;EAW98840;EAW98841;NP_003602;O75665 Hs.6483 1658289;1701740 DXS1152;RH47405 71-7A;CXorf5;JBTS10;MGC117039;MGC117040;RP23;SGBS2 OTTHUMP00000022940;OTTHUMP00000022941;oral-facial-digital syndrome 1 protein;protein 71-7A;retinitis pigmentosa 23 (X-linked recessive) APPROVED protein-coding ENSG00000046651 2567 02162 300170;300209;300804;311200 REVIEWED 1605373 OGFOD1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 16 16 16 q12.2 40983443 41009426 + 55042925 55068908 + 56485424 56511407 + 6480464 18029348;14702039;12477932;10997877;20154146;20579638;22863883;22990118;21139048;21693764;21890473;21906983;21963094;21252943 55239 H3BP48;H3BR02;H3BR79;H3BUA6;H3BUQ2;J3KNR5;Q8N543 AB046832;ABBA01025246;AC092140;AK001688;AK022130;AK022752;AK024314;AK304584;AL711389;AMYH01007690;BC032919;CH471092;NM_018233 AAH32919;BAA91838;BAB13438;BAB13967;BAB14226;BAB14880;BAG65372;EAW82861;EAW82862;NP_060703;Q8N543 Hs.231883 1678409;1723071;1849260;2171376;5037552;5109281 D1S1425;D8S2279;RH121887;RH65188;SHGC-30074;SHGC-60845 FLJ10826;KIAA1612;TPA1 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1;OTTHUMP00000164314;TPA1, termination and polyadenylation 1, homolog;termination and polyadenylation 1 homolog protein-coding 25585 08553 VALIDATED 1606222 OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 12 12 12 q24.31 123052147 123057381 + 122025307 122030541 + 123459354 123464588 + 6480464 16169070;14702039;12477932;21507922;21906983 79676 F5H145;F5H890;Q6N063 ABBA01060439;AC026362;AK023553;AK094820;AK095481;AK303095;AMYH01004835;BC009181;BC015605;BC033857;BC047676;BC071172;BC098119;BC098293;BC101940;BC105637;BX640675;BX640734;CH471054;CR457316;NM_024623 AAH98119;AAH98293;AAI01941;AAI05638;BAB14610;BAG52936;BAG53066;BAG64205;CAE45807;CAE45849;CAG33597;EAW98364;EAW98365;EAW98366;EAW98367;EAW98368;EAW98369;EAW98370;EAW98371;EAW98372;NP_078899;Q6N063 Hs.524817 1762317;1766435;1771921;2176072;5107535 RH78153;SGC30324;SHGC-146164;SHGC-149768;STS-AA022496 DKFZp686H15154;FLJ13491;FLJ37501;MGC120434;MGC120436 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2;OTTHUMP00000239397;OTTHUMP00000239405 protein-coding ENSG00000111325 25823 07829 PROVISIONAL 1353072 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] 7 7 p14-p13 44612696 44715194 + 44646121 44748669 + 1580863;2306878;2306877;6480464;6907045;7240710 10672230;9712727 17456239;2188967;17343268;16344560;16189514;15649899;15466852;12477932;9847074;9727038;8020988;7622061;1542694;20877624;18029348;19615732;8889548;17000644;22169199;22939629;21611730;17370265;23475850;18781797;21139048;21890473;16009940 4967 B4E3E9;C9J4G7;E9PCR7;E9PDF2;E9PFG7;F5H801;Q02218 AACC02000110;ABBA01058224;ABBA01058225;ABBA01058226;ABBA01058227;ABBA01058228;AC004859;AC011894;AI244565;AK293871;AK294951;AK296400;AK302805;AK304439;AK304690;AK314179;AMYH01017212;AMYH01017213;AU140451;BC004964;BC009580;BC014617;BC128549;BC128550;BM998792;BU682361;CH236960;CH471128;D10523;D32064;DC401267;DQ925674;NG_023260;NM_001003941;NM_001165036;NM_002541 AAH04964;AAH09580;AAH14617;AAI28550;AAI28551;AAQ96884;AAQ96885;ABL59901;ABM82806;ABW03449;BAA01393;BAA06836;BAG57261;BAG58026;BAG59067;BAG64007;BAG65261;BAG65461;EAW61086;EAW61087;EAW61088;EAW61089;NP_001003941;NP_001158508;NP_002532;Q02218 Hs.488181 1334655;1648585;1665140;1786370;1852085;2127659;2131685;2158934;2177868;2179236;2186467;5015961;5022322;5037552;5491645;7183766 D11S2560;D15S1477;D7S2068E;D7S2436;D7S2643;D8S2279;GDB:1317390;GDB:1318360;GDB:4585311;MARC_4335-4336:996679558:1;RH11783;RH70029;SHGC-171927;STS-AA005110;STS-T70286 AKGDH;E1k;OGDC 2-oxoglutarate dehydrogenase complex component E1;2-oxoglutarate dehydrogenase, mitochondrial;OGDC-E1;OTTHUMP00000207703;OTTHUMP00000207704;OTTHUMP00000207705;OTTHUMP00000207706;OTTHUMP00000207707;OTTHUMP00000207708;alpha-ketoglutarate dehydrogenase;oxoglutarate decarboxylase;oxoglutarate dehydrogenase (lipoamide);oxoglutarate dehydrogenase (succinyl-transferring) APPROVED protein-coding ENSG00000105953 8124 08938 203740;613022 REVIEWED 5552939 OIP5-AS1 OIP5 antisense RNA 1 15 15 q15.1 39363420 39378035 + 41576201 41591795 + 6480464 8619474;9110174;22196729 729082 ABBA01038416;ABBA01038417;ABBA01038418;AC012652;AK172729;AMYH01006568;AY007106;BC037835;BX647764;NR_026757 Hs.380164 1652001;1660177;1666063;1847874;1857568;2152560;2155613;5015961;5022578;5022651;5113709 A008R24;D11S2921;D15S1273;D15S1477;D15S615E;D1S1423;RH44572;RH45676;RH69915;SGC33689;WI-17591 cyrano APPROVED miscrna 43563 PREDICTED 1318300 OGFRL1 opioid growth factor receptor-like 1 6 6 6 q13 72387075 72400570 + 72055198 72068694 + 71998477 72011973 + 6480464 12477932;14702039;22318606 79627 Q5TC84 ABBA01040281;ABBA01040282;AK024732;AK124833;AL136164;AL137346;AMYH01016417;BC018688;BC110999;BX420584;CH471051;NM_024576 AAH18688;AAI11000;BAB14980;EAW48802;EAW48803;NP_078852;Q5TC84 Hs.648434;Hs.656091 1676266;1851394;1855235;2171729;2185237;5015619;5015861;5024039;5037552;7185938 D10S16;D11S3114;D16S325;D8S2279;RH35909;RH98996;WI-11437;WI-11606;WI-14294 FLJ21079;MGC102783;dJ331H24.1 OTTHUMP00000016711;opioid growth factor receptor-like protein 1 protein-coding ENSG00000119900 21378 14875 VALIDATED 737296 OGFR opioid growth factor receptor The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008] 20 20 q13.3 60906622 60915797 + 61436177 61445352 + 1580863;6480464 10677613;19297547;19244545;18923142;18636152;17273790;17081983;16820893;16685459;15489334;14702039;12650964;12477932;11890982;11780052;11214971;10974024;16159877;19675283;19835629;19923357;22939629;22863883;21252943;21044950;12938929;19471022;21139048;21890473;21906983;22328595;22505724 11054 Q4VXW3;Q4VXW4;Q9NZT4 ABBA01021371;AF109134;AF112980;AF172449;AF172450;AF172451;AF172452;AF172453;AK022234;AK024485;AK314696;AL035669;AMYH01012061;BC008768;BC014137;BC032666;BM551600;CH471077;NM_007346 AAD03737;AAD03745;AAF64402;AAF64403;AAF64404;AAF64405;AAF64406;AAH08768;AAH14137;AAH32666;ABM83869;ABW03524;BAB15775;BAG51068;EAW75335;EAW75336;EAW75337;EAW75338;EAW75339;EAW75340;EAW75341;NP_031372;Q9NZT2 Hs.67896 1339626 D19S876 7-60 protein;OTTHUMP00000031503;OTTHUMP00000031504;OTTHUMP00000031505;opioid growth factor receptor;protein 7-60;zeta-type opioid receptor APPROVED protein-coding ENSG00000060491 15768 08404 606459 REVIEWED 7242162 OLA1P1 Obg-like ATPase 1 pseudogene 1 246785 ABBA01055662;AL021878;AMYH01012809;NG_001589 pseudo 45274 INFERRED 7242161 OLA1P3 Obg-like ATPase 1 pseudogene 3 101060020 ABBA01008393;AC023055;AMYH01004497 pseudo 45278 MODEL 1353911 OGG1 8-oxoguanine DNA glycosylase This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008] 3 3 p26.2 9765705 9783342 + 9791628 9808353 + 1600295;1578408;1580863;2317134;2317128;2317132;2317140;2317133;2317130;2317136;2317139;2317137;2317150;6480464;6907045;7240710 10987279;16221808;11866974;19266243;17230526;18218111;12003641;18559563;11260864;18295498;18676009;12531391 21220122;22469746;22279581;21515665;18406515;18393249;18384956;18366059;18349297;18312439;18272472;18270339;18246124;18222119;18204928;18155253;18154319;18091433;18086781;18059482;18006925;17991492;17989114;17984110;17971348;17951408;17932460;17922186;17827862;17651912;17536801;17531525;17531381;17457458;17426120;17417784;17417778;17399686;17389610;17374727;17353931;17313735;17252231;17240059;17220334;17214369;17209434;17207658;17207022;17203305;17177211;17149600;17148573;17127715;17126083;9223305;10583946;9190902;15518571;19428376;19423521;19414392;19393248;19391486;19350226;19339270;19265534;19237606;19223501;19176223;19161591;19147860;19147782;19116388;19064361;19029194;19012493;18992148;18990748;18977234;18936436;18848840;18825991;18823566;18776649;18713157;18676680;18672903;18672023;18641418;18641208;18628426;18585103;18569589;18544627;18515411;18505345;18478337;18477212;17114185;17090545;17085873;17057786;17040931;17028303;17018150;17015827;17015267;16997330;16982113;16949154;16923968;16872898;16843501;16800823;16615267;16614128;16609022;16600130;16597659;16585517;16569655;16567524;16564556;16549874;16543247;16538639;16492928;16478987;16381036;16366378;16341674;16333523;16293709;16211227;16195237;16111924;16052235;16024742;15990162;15990020;15979229;15971256;15946795;15942030;15931596;15929986;15896461;15887293;15870915;15856018;15841414;15834708;15811855;15800616;15800211;15781210;15760895;15737490;15667866;15661661;15654505;15610848;15596047;15587988;15494448;15491645;15449173;15350146;15284179;15231648;15184269;15077011;14752045;14716324;14688259;14663360;14634838;14634453;14578150;12933815;12899941;12883749;12841596;12807753;12779082;12754413;12718576;12717837;12644468;12612057;12592398;12582029;12578369;12509224;12477932;12244119;12189194;12164330;12164325;12163326;9223306;9207108;9197244;9187114;16169070;12117782;12034821;11992556;11977425;11956079;12151358;12119232;11927502;11902834;11837743;11827746;11719088;11675410;11448535;11307145;11110971;10908322;10775435;10717238;10706276;10497264;10449904;10233168;9765618;9681819;9662341;9348312;9321410;22451681;22121210;22471492;21338203;21355073;21401806;20577654;8621488;18029348;20731661;20819778;20845517;20850372;20877624;20884250;20981350;21036733;21036742;21037106;19399402;20846459;19408654;20723587;20564624;19913121;20192583;20559012;20562008;20571908;20574454;20593951;20602259;20606456;20628086;20634891;20644561;20649433;20667409;20817763;20843780;20718982;18279607;18992806;19170196;19351836;19486888;19493423;19506022;19514640;19524665;19536092;19561388;19563869;19615952;19625176;19630534;19643912;19671832;19692168;19789190;19815090;19826048;19857538;19881468;19885394;19902366;19914098;19914697;19959686;19962393;19963114;19966524;20023702;20054639;20056743;20058067;20069464;20140625;20150366;20183911;20193742;20209647;20226869;20231640;20304505;20306073;20364408;20368715;20378691;20391347;20453000;20459474;20496165;20512606;20522537;20530453;20534734;20547950;21113933;21183201;20127182;20971211;21376741;22890093;22901126;22799296;23038158;22659345;21465496;21166493;21426660;21426661;21561390;21722819;21343179;21727658;21184188;21356311;21845541;20360068;21640155;21822670;21520294;21568844;23332971;22989268;21623257;21727036;21390502;21986195;21987572;21866464;21873502;21153698;22294108;22692827;23396182;23454624;22652274;22081374;22110223;22019439;22114677;22175854;20137386;21974800;22296498;22343785;21695387;21908221;21914193;21997177;22057269;22108520;21253737;21790253;22540013;22568941;22302830;22306120;22320944;22320992;21899442;22156293;22989888;22993322;20100872;22193621;22511791;23055259;22463382;23322570;22829015;23271362;23376476;23065211;22798271;23499241;22279661;22857644;22526153;22855704;23079842;22565339 4968 E5KPM5;E5KPM6;E5KPM7;E5KPM8;E5KPM9;E5KPN0;E5KPN1;F8WCZ9;H7BXZ1;H7BZM3;H7C0A1;H7C1D7;H7C1V7;Q9Y6C4 AB000410;AB019528;AB019529;AB019530;AB019531;AB019532;AB037878;AB037879;AB037880;AB037881;AB037882;ABBA01020400;AC022382;AF003595;AF026691;AF088282;AF521807;AJ131341;AK289858;AMYH01012964;AW614399;BC000657;BM847736;CH471055;HQ205506;HQ205507;HQ205508;HQ205509;HQ205510;HQ205511;HQ205512;HQ205513;HQ205514;HQ205515;HQ205516;HQ205517;HQ205518;HQ205519;HQ205520;HQ205521;HQ205522;HQ205523;HQ205524;HQ205525;HQ205526;HQ205527;HQ205528;HQ205529;HQ205530;HQ205531;HQ205532;HQ205533;HQ205534;HQ205535;HQ205536;HQ205537;HQ205538;HQ205539;HQ205540;HQ205541;HQ205542;HQ205543;HQ205544;HQ205545;NG_012106;NM_002542;NM_016819;NM_016820;NM_016821;NM_016826;NM_016827;NM_016828;NM_016829;U88527;U88620;U96710;Y11731;Y11838;Y13277 AAB61340;AAB68614;AAB68615;AAB81132;AAB84013;AAD41680;AAD41681;AAD41682;AAH00657;AAM74236;ABM87106;ABW03843;ADQ20117;ADQ20118;ADQ20119;ADQ20120;ADQ20121;ADQ20122;ADQ20123;ADQ20124;ADQ20125;ADQ20126;ADQ20127;ADQ20128;ADQ20129;ADQ20130;ADQ20131;ADQ20132;ADQ20133;ADQ20134;ADQ20135;ADQ20136;ADQ20137;ADQ20138;ADQ20139;ADQ20140;ADQ20141;ADQ20142;ADQ20143;ADQ20144;ADQ20145;ADQ20146;ADQ20147;ADQ20148;ADQ20149;ADQ20150;ADQ20151;ADQ20152;ADQ20153;ADQ20154;ADQ20155;ADQ20156;ADQ20157;ADQ20158;ADQ20159;ADQ20160;ADQ20161;ADQ20162;ADQ20163;ADQ20166;ADQ20167;ADQ20168;ADQ20169;ADQ20170;ADQ20171;ADQ20172;ADQ20173;ADQ20174;ADQ20175;ADQ20176;ADQ20177;ADQ20178;ADQ20179;ADQ20180;ADQ20181;ADQ20182;ADQ20183;ADQ20184;ADQ20185;ADQ20186;ADQ20187;ADQ20188;ADQ20189;ADQ20190;ADQ20191;ADQ20192;ADQ20193;ADQ20194;ADQ20195;ADQ20196;ADQ20197;ADQ20198;ADQ20199;ADQ20200;ADQ20201;ADQ20202;ADQ20203;ADQ20204;ADQ20205;ADQ20206;ADQ20207;ADQ20208;ADQ20209;ADQ20210;ADQ20211;ADQ20212;ADQ20215;ADQ20216;ADQ20217;ADQ20218;ADQ20219;ADQ20220;ADQ20221;ADQ20222;ADQ20223;ADQ20224;ADQ20225;ADQ20226;ADQ20227;ADQ20228;ADQ20229;ADQ20230;ADQ20231;ADQ20232;ADQ20233;ADQ20234;ADQ20235;ADQ20236;ADQ20237;ADQ20238;ADQ20239;ADQ20240;ADQ20241;ADQ20242;ADQ20243;ADQ20244;ADQ20245;ADQ20246;ADQ20247;ADQ20250;ADQ20251;ADQ20252;ADQ20253;ADQ20254;ADQ20257;ADQ20258;ADQ20259;ADQ20260;ADQ20261;ADQ20262;ADQ20263;ADQ20264;ADQ20265;ADQ20266;ADQ20267;ADQ20268;ADQ20269;ADQ20270;ADQ20271;ADQ20272;ADQ20273;ADQ20274;ADQ20275;ADQ20276;ADQ20277;ADQ20278;ADQ20279;ADQ20280;ADQ20281;ADQ20282;ADQ20283;ADQ20284;ADQ20285;ADQ20286;ADQ20287;ADQ20288;ADQ20289;ADQ20290;ADQ20291;ADQ20292;ADQ20293;ADQ20294;ADQ20295;ADQ20296;ADQ20297;ADQ20298;ADQ20299;ADQ20300;ADQ20301;ADQ20302;ADQ20303;ADQ20304;ADQ20305;ADQ20306;ADQ20307;ADQ20308;ADQ20309;ADQ20310;ADQ20311;ADQ20312;ADQ20313;ADQ20314;ADQ20315;ADQ20316;ADQ20317;ADQ20318;ADQ20319;ADQ20320;ADQ20321;ADQ20322;ADQ20323;ADQ20324;ADQ20325;ADQ20326;ADQ20327;ADQ20328;ADQ20329;ADQ20330;ADQ20331;ADQ20332;ADQ20333;ADQ20334;ADQ20335;ADQ20336;ADQ20337;ADQ20338;ADQ20339;ADQ20340;ADQ20341;ADQ20342;ADQ20343;ADQ20344;ADQ20345;ADQ20346;ADQ20347;ADQ20348;ADQ20349;ADQ20350;ADQ20351;ADQ20352;ADQ20353;ADQ20354;ADQ20355;ADQ20356;ADQ20357;ADQ20358;ADQ20359;ADQ20360;ADQ20361;ADQ20362;ADQ20363;ADQ20364;ADQ20365;ADQ20366;ADQ20367;ADQ20368;ADQ20369;ADQ20370;ADQ20371;ADQ20372;ADQ20373;ADQ20374;ADQ20375;ADQ20376;ADQ20377;ADQ20378;ADQ20379;ADQ20380;ADQ20381;ADQ20382;ADQ20383;ADQ20384;ADQ20385;ADQ20386;ADQ20387;ADQ20388;ADQ20389;ADQ20390;ADQ20391;ADQ20392;ADQ20393;ADQ20394;ADQ20395;ADQ20396;BAA19103;BAA76635;BAA76636;BAA76637;BAA76638;BAA76639;BAB13293;BAB13294;BAB13295;BAB13296;BAB13297;BAF82547;CAA10351;CAA72414;CAA72536;CAA73726;EAW63978;EAW63979;EAW63980;EAW63981;EAW63982;EAW63983;EAW63984;EAW63985;EAW63986;EAW63987;EAW63988;NP_002533;NP_058212;NP_058213;NP_058214;NP_058434;NP_058436;NP_058437;NP_058438;O15527 Hs.380271 1658025;1709002;1788116;1788118;1789881;2131591;2159032 G67288;G67289;RH78923;SHGC-76687;SHGC-76689;SHGC-79567;csnpogg1-pcr5-1 HMMH;HOGG1;MUTM;OGH1 8-hydroxyguanine DNA glycosylase;AP lyase;DNA-apurinic or apyrimidinic site lyase;N-glycosylase/DNA lyase;OGG1 type 1f;OTTHUMP00000122618;OTTHUMP00000122619;OTTHUMP00000122620;OTTHUMP00000122621;OTTHUMP00000122622;OTTHUMP00000122623;OTTHUMP00000207398;OTTHUMP00000207399;OTTHUMP00000207403;OTTHUMP00000207404 APPROVED protein-coding ENSG00000114026 8125 03582 144700;601982 REVIEWED 1345970 OIT3 oncoprotein induced transcript 3 10 10 10 q22.1 67938478 67977926 + 74323345 74362793 + 74653339 74692787 + 1302862;1580863;6480464 12939600 15589826;14702039;12975309;12477932;18830570 170392 Q8WWZ8 ABBA01020345;AC069548;AF075085;AK096435;AMYH01002824;AY013707;AY358339;BC126440;CH471083;CS300502;NM_152635 AAG40096;AAI26441;AAQ88705;BAC04788;CAK32166;EAW54463;NP_689848;Q8WWZ8 Hs.8366 1336183;1339722;1662601;1690850 D10S1146;D10S1432;RH70386;RH81037 FLJ39116;LZP OTTHUMP00000019791;liver-specific ZP domain-containing protein;liver-specific zona pellucida domain-containing protein;oncoprotein-induced transcript 3 protein protein-coding ENSG00000138315 29953 17660 609330 PROVISIONAL 1317793 OGN osteoglycin This gene encodes a protein which induces ectopic bone formation in conjunction with transforming growth factor beta. This protein is a small proteoglycan which contains tandem leucine-rich repeats (LRR). Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q22 94186070 94206758 - 95146249 95166937 - 6480464 10373482;11256614;18243607;17895523;16381901;16303743;16189248;15489336;15489334;15340161;15164053;13679028;12533723;12477932;11230166;11076863;10931946;10828622;10802664;10656267;2372374;2326263;17474147;19453261;20360993;20379614;19913121;20628086 4969 A8K0R3;P20774;Q5TBF5;Q7Z532 ABBA01018585;AF086912;AF088023;AF100758;AF112465;AF173383;AF192478;AF192483;AF202167;AI424992;AK075521;AK129845;AK289628;AK295433;AL110267;AL133114;AL137848;AMYH01021508;BC037273;BC095443;BG772245;BX646984;CH471089;CR533516;NM_014057;NM_033014 AAD40453;AAD43022;AAF19364;AAF69109;AAH37273;AAH95443;AAP97142;AAQ13624;ABM82153;ABM85338;BAF82317;BAG52162;BAG58375;CAB53706;CAB61417;CAG38547;CAL37691;CAL37820;EAW62818;EAW62819;EAW62820;NP_054776;NP_148935;P20774 Hs.109439 1657427;1689025;2108327;2159005 OGN_8519;RH16376;RH36468;RH80964 DKFZp586P2421;OG;OIF;SLRR3A OTTHUMP00000021650;OTTHUMP00000021651;corneal keratan sulfate proteoglycan;mimecan;mimecan proteoglycan;osteoglycin (osteoinductive factor, mimecan);osteoinductive factor APPROVED protein-coding ENSG00000106809 8126 03856 602383 REVIEWED 1345771 OIP5 Opa interacting protein 5 15 15 15 q15.1 18369443 18392796 - 39388758 39412111 - 41601466 41624819 - 1580863;6480464 9466265;17284516;17199038;15489334;12620389;12477932;20510019;21139048;21906983;22129094;21988832;23292864;23455924 11339 H0YKL4;O43482 ABBA01038415;ABBA01038416;AC012652;AC087721;AF025441;AMYH01006568;AMYH01006569;BC015050;CH471125;NM_007280 AAC39561;AAH15050;EAW92480;EAW92481;NP_009211;O43482 Hs.661645 1709860;1854138;2108329 A009U10;OIP5_9267;SHGC-84758 5730547N13Rik;CT86;LINT-25;MIS18B;MIS18beta;hMIS18beta LAP2alpha interactor-25;MIS18 kinetochore protein homolog B;OIP-5;OTTHUMP00000160744;cancer/testis antigen 86;opa-interacting protein 5;protein Mis18-beta protein-coding ENSG00000104147 20300 09352 606020 PROVISIONAL 736466 OGT O-linked N-acetylglucosamine (GlcNAc) transferase This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009] X X q13 70669658 70712465 + 70752912 70795747 + 1625539;1580863;2311625;6480464;6907045 15466941;18445751 20479123;12136128;17353931;19377461;12670868;9083067;9083068;19073609;18653473;18536723;18174169;16966374;16189514;16105839;15896326;15795231;15561949;15489334;15336570;14601650;12911634;12724313;12538765;12504895;12477932;12435728;12373287;12150998;11846551;11773972;10801981;10753899;10580430;10386995;9499386;9343410;9110174;8910513;8702840;8639509;8619474;8344946;8076819;8063760;7642555;1730617;1533623;1512232;22275356;22307082;20876116;16434389;16449650;16505006;21240259;20628624;21285374;20805223;20845477;16344560;19615732;20068230;20190804;20200153;20206135;12226704;20824293;23103939;23103942;23088713;23184937;22863883;23152511;23222540;17000644;17882263;22883232;22939629;21327254;18029348;21252943;22311971;18288188;18781797;20360068;20805357;21081666;21987572;19932102;21295698;21963094;23000965;23246001;23487789;22783592;21628590;22496241;22574218;22294689;21139048;21890473;21906983;22384635;21567137;22371499;22053931;22072767;22505724 8473 C9JZL3;H7C2T7;O15294 ABBA01067756;ABBA01067757;ABBA01067758;AF070560;AF147394;AF223393;AJ315767;AK300267;AK313530;AL049950;AL050366;AL590763;AL833085;AMYH01022537;BC014434;BC015144;BC038180;BX537844;CB857907;CH471132;DA460761;NG_015875;NM_181672;NM_181673;U77413 AAB63466;AAF31458;AAH14434;AAH38180;ABM84549;ABM87847;BAG62028;CAB62528;CAC86127;CAC86128;CAC86129;CAD89970;CAD97853;EAX05285;EAX05286;EAX05287;NP_858058;NP_858059;O15294 Hs.405410 1336042;1659162;1666065;1739671;2117487;2187160 A002Y42;DXS7559E;DXS8101;RH1703;SHGC-16181;SHGC-56883 FLJ23071;HRNT1;MGC22921;O-GLCNAC O-GlcNAc transferase p110 subunit;O-GlcNAc transferase subunit p110;O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase);O-linked N-acetylglucosamine transferase 110 kDa subunit;OTTHUMP00000032154;OTTHUMP00000032166;UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit;UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase;o linked n-acetylglucosamine transferase;uridinediphospho-N-acetylglucosamine:polypeptide beta-N-acetylglucosaminyl transferase APPROVED protein-coding ENSG00000147162 8127 02222 300255 REVIEWED 1604016 OLA1 Obg-like ATPase 1 2 2 2 q31.1 168550691 168726869 - 174645421 174821611 - 174937175 175113365 - 6480464 17430889;17353931;11256614;16169070;15635413;15489334;14702039;12477932;11230166;8125298;18536999;19706404;19882753;20053727;20379614;22863883;22939629;16147992;21139048;21890473;21906983;22145905;22190034;22952844;19738201;23000965;23412384 29789 C9JCJ9;C9JTK6;J3KQ32;Q9Y6G4 ABBA01062183;ABBA01062184;ABBA01062185;ABBA01062186;AC013467;AC016737;AF078859;AF078868;AF116703;AF134478;AK027523;AK074710;AK225112;AK225138;AK296339;AL136546;AL833441;AMYH01011278;BC012842;BC013925;BC029376;BC068447;BC091522;CH471058;CQ782638;DQ250006;NM_001011708;NM_013341 AAD44491;AAD44500;AAF71123;AAH12842;AAH13925;AAH29376;AAH91522;AAP97255;AAY14779;AAY14876;ABB72766;BAB55174;BAC11153;BAG59026;CAB66481;CAF85894;EAX11149;EAX11150;EAX11151;NP_001011708;NP_037473;Q9NTK5 Hs.157351 1341331;1648875;1669208;1705962;1721997;1856712;2109705;2143044;2149592;2189525 D2S1274;D2S1299;D2S2655;D2S2677;G59884;PTD004_9588;RH143639;RH48122;SHGC-31842;SHGC-79690 DKFZp313H1942;DOC45;GBP45;GTBP9;GTPBP9;PTD004 DNA damage-regulated overexpressed in cancer 45 protein;GTP-binding protein 9 (putative);GTP-binding protein PTD004;OTTHUMP00000163173;OTTHUMP00000205066;OTTHUMP00000205067;OTTHUMP00000205070;homologous yeast-44.2 protein;obg-like ATPase 1 protein-coding ENSG00000138430 28833 15194 611175 VALIDATED 1352519 OLAH oleoyl-ACP hydrolase 10 10 10 p13 15014547 15044484 + 15125951 15155857 + 15085895 15115851 + 1580863;6480464;6907045 17082220;15489334;14702039;12477932;17207965;16385451 55301 Q5VUB8;Q5VUB9;Q5VUC0;Q5VUC1;Q9NV23 ABBA01034600;ABBA01034601;AK001844;AK001968;AL590365;AMYH01002055;BC050372;BG281536;BG722790;BI830605;BR000403;CH471072;NM_001039702;NM_018324 AAH50372;ADQ33115;BAA91937;BAA92007;EAW86244;EAW86245;FAA00320;NP_001034791;NP_060794;Q9NV23 Hs.24309 1731062;1731092;5014051;5021872;5022651 D10S280;D10S296;D11S2921;D8S2278;sY3084 AURA1;FLJ11106;MGC51852;SAST;THEDC1 OTTHUMP00000019191;OTTHUMP00000019192;OTTHUMP00000019194;OTTHUMP00000019195;S-acyl fatty acid synthase thioesterase, medium chain;augmented in rheumatoid arthritis 1;thioesterase II;thioesterase domain containing 1;thioesterase domain-containing protein 1 protein-coding ENSG00000152463 25625 07731 VALIDATED 1320243 OLFM2 olfactomedin 2 19 19 19 p13.2 9859823 9942535 - 9825394 9908070 - 9964394 10047070 - 1580863;6480464 15057824;17122126;15489334;15123989;12766061;12477932;9110174;8619474;16169070;21102462 93145 K7EIS8;K7EKW2;K7ELC6;O95897 ABBA01029958;ABBA01029959;ABBA01029960;ABBA01029961;ABBA01029962;AC008742;AC008752;AF131839;AMYH01009463;AMYH01009464;BC011361;BK001428;CH471106;NM_058164 AAD20056;AAH11361;ABM82009;ABM85191;DAA01550;EAW84060;NP_477512;O95897 Hs.169743 1775693;2165873;2172133;2191801;5094901 D19S1061;MARC_7983-7984:996688212:1;OLFM2;RH47787;RH47931 NOE2;NOELIN2;NOELIN2_V1;OlfC neuronal olfactomedin related ER localized protein 2;noelin 2;noelin-2;olfactomedin-2 protein-coding ENSG00000105088 17189 10127 PROVISIONAL 1323306 OLFM4 olfactomedin 4 This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011] 13 13 q14.3 52500973 52524193 + 53602876 53626196 + 6480464 19450592;18798264;18281536;17650212;16566923;12975309;12477932;11867215;11302958;22658931;2824652;22844115;19670418;20724538;20878207;16344560;21048224;21832049;21270618;21415212;21470957;21067260;21986994;22187488;22471589;21904905;22011044;22484627;23251661;22398066 10562 Q6UX06 ABBA01037064;AF097021;AI560739;AK000683;AK300947;AL390736;AMYH01005126;AY358567;BC047740;BC117329;CH471124;DA928098;NM_006418 AAC72970;AAH47740;AAI17330;AAQ88930;ADR83035;BAG62576;EAW52052;EAW52053;NP_006409;Q6UX06 Hs.508113 1674005;1851440;2108849 A002P14;OLFM4_9141;RH66409 GC1;GW112;KIAA4294;OLM4;OlfD;UNQ362;bA209J19.1;hGC-1;hOLfD G-CSF-stimulated clone 1 protein;OTTHUMP00000018468;antiapoptotic protein GW112;olfactomedin-4 APPROVED protein-coding ENSG00000102837 17190 06580 614061 REVIEWED 1351843 OLFR@ olfactory receptor cluster 4972 8131 1323220 OLFML2A olfactomedin-like 2A 9 9 9 q33.3 98187326 98225048 + 126579258 126616982 + 127539437 127577161 + 737633;1580863;6480464 12477932 16344560;14702039;12975309;21832049;19850743;22913984 169611 Q5JTM7;Q68BL7 AB119055;ABBA01043754;ABBA01043755;AK074164;AK074709;AK092255;AL050002;AL354928;AMYH01021708;AY191222;AY358185;BC011693;BC013281;BC054001;CH471090;DA727926;NM_182487 AAH54001;AAP20104;AAQ88552;BAB84990;BAD38864;EAW87596;EAW87597;NP_872293;Q68BL7 Hs.357004 1674873;1682355;1729890;5015961;5022578;5037552 D15S1477;D1S1423;D8S2279;D9S117;D9S1976;RH94027 FLJ00237;PRO34319 OTTHUMP00000022114;olfactomedin-like protein 2A;photomedin-1 protein-coding ENSG00000185585 27270 14876 VALIDATED 733478 OLFM1 olfactomedin 1 This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34.3 108481187 108526613 + 137106910 137152851 + 137967089 138013030 + 1580863;6480464 17043677;9039501;16344560;16335952;15489334;14702039;12477932;9110174;8619474;20379614;20029029;21832049;21968811;22095909;23251661 10439 F5GZQ2;F5H810;F8W870;H0YFB9;Q5VZL8;Q6IMJ5;Q6IMJ6;Q6IMJ7;Q6IMJ8;Q99784 ABBA01030020;ABBA01030021;ABBA01030022;AF035301;AI656802;AK090818;AK096304;AK289719;AK289921;AK290478;AL159992;AL390778;AMYH01021834;AMYH01021835;BC000189;BC008763;BC011741;BC015437;BK001427;BT007146;BU078731;BX419781;BX461034;CH471090;D82343;DA483071;DA795630;DB069120;DN993130;NM_006334;NM_014279;U79299 AAB50225;AAB88184;AAH00189;AAH08763;AAH11741;AAH15437;AAP35810;ADZ15507;BAA11554;BAC04756;BAF82408;BAF82610;BAF83167;BAG52234;DAA01545;DAA01546;DAA01547;DAA01548;DAA01549;EAW88142;EAW88143;EAW88144;EAW88145;NP_006325;NP_055094;Q99784 Hs.522484 1656069;1656809;1735950;1740159;1764137;1764633;1765151;1771954;1793978;2158888;2179180;5094192 D9S1017E;D9S1074E;D9S1770;G54602;PMC310711P2;SHGC-147780;SHGC-148221;SHGC-148670;SHGC-2407;SHGC-63472;SHGC-63473;WI-16144 AMY;NOE1;NOELIN1;OlfA OTTHUMP00000022526;OTTHUMP00000022527;OTTHUMP00000022528;OTTHUMP00000022529;OTTHUMP00000237766;neuroblastoma protein;neuronal olfactomedin-related ER localized protein;noelin;olfactomedin-1;pancortin 1 APPROVED protein-coding ENSG00000130558 17187 09249 605366 REVIEWED 735294 OLFM3 olfactomedin 3 1 1 1 p22 100531779 100726446 - 102040718 102235136 - 102268127 102462790 - 6480464 18519826;16344560;16115881;15489334;14702039;12975309;12477932;12019210;20379614;21832049;22281030 118427 B3KTG9;Q96PB3 ABBA01045420;ABBA01045421;AF397392;AF397393;AF397394;AF397395;AF397396;AF397397;AK095551;AK095724;AK300870;AL356280;AL359760;AMYH01000830;AMYH01000831;AY358722;BC022531;BK001429;CH471097;DA406512;NM_058170 AAH22531;AAK97473;AAK97474;AAK97475;AAK97476;AAK97477;AAK97478;AAQ89084;ABW03310;BAG53081;BAG53115;BAH13362;DAA01551;DAA01552;DAA01553;DAA01554;DAA01555;DAA01556;EAW72921;EAW72922;EAW72923;NP_477518;Q96PB7 Hs.484475 1692110;1692564 AL033695;AL033929 NOE3;NOELIN3;NOELIN3_V1;NOELIN3_V2;NOELIN3_V3;NOELIN3_V4;NOELIN3_V5;NOELIN3_V6;OPTIMEDIN OTTHUMP00000012613;OTTHUMP00000012614;noelin 3;noelin-3;olfactomedin related ER localized protein 3;olfactomedin-3 protein-coding ENSG00000118733 17990 607567 VALIDATED 1319500 OLFML2B olfactomedin-like 2B 1 1 1 q23.3 135056378 135097036 - 160219606 160260268 - 161952982 161993644 - 6480464 12477932;19587794;19948975;20379614;22939635 25903 F2Z3N3;H0YE85;H0YEW8;Q68BL8 AB119054;ABBA01047311;AK301499;AK316154;AL050137;AL391825;AL590408;AMYH01001463;BC047472;BC067274;BX648975;CH471067;NM_015441 AAH47472;AAH67274;BAD38863;BAG63010;BAH14525;CAB43286;CAI45982;EAW90696;EAW90697;EAW90698;NP_056256;Q68BL8 Hs.507515 1757679;1772280 RH70774;SHGC-146223 MGC51337;RP11-227F8.1 OTTHUMP00000025712;OTTHUMP00000229106;olfactomedin-like protein 2B;photomedin-2 protein-coding ENSG00000162745 24558 14877 PROVISIONAL 1349527 OMA1 OMA1 zinc metallopeptidase 1 1 1 p32.2-p32.1 57230483 57296551 - 58718979 58785034 - 58946391 59012446 - 737633;1580863;6480464 12477932 17615298;14702039;12886954;20877624;20038677 115209 H7BZX2;Q96E52 AB048348;ABBA01074659;ABBA01074660;AK091101;AK308847;AL109845;AL365187;AMYH01000653;AMYH01000654;AMYH01000655;BC012915;CH471059;NM_145243 AAH12915;ADZ15487;BAC03583;BAC79381;EAX06631;EAX06632;EAX06633;EAX06634;NP_660286;Q96E52 Hs.425769 1680888;1765077;2122321;2164241;5015619 AL009888;D11S3114;D1S3381;RH80515;SHGC-148610 2010001O09Rik;DAB1;FLJ33782;MPRP-1;YKR087C;ZMPOMA1 OMA1 homolog, zinc metallopeptidase;OMA1 zinc metallopeptidase homolog;OTTHUMP00000011756;OTTHUMP00000011757;metalloendopeptidase OMA1, mitochondrial;metalloprotease related protein 1;metalloprotease-related protein 1;overlapping activity with M-AAA protease;overlapping with the m-AAA protease 1 homolog;zinc metallopeptidase OMA1 APPROVED protein-coding ENSG00000162600 29661 14879 PROVISIONAL 1323529 OLFML1 olfactomedin-like 1 11 11 11 p15.4 7625730 7651738 + 7463331 7489140 + 7506600 7532608 + 6480464 18708057;15489334;15340161;12975309;12477932;16344560 283298 E9PKN7;E9PN44;Q5HYE3;Q6UWY5 ABBA01028680;AC107884;AK297778;AK298137;AMYH01003370;AY358591;BC035895;BC092488;BX647908;CH471064;DB257515;DC397336;NM_198474 AAH35895;AAH92488;AAQ88954;BAG60123;BAG60415;CAI46097;EAW68655;EAW68656;EAW68657;EAW68658;NP_940876;Q6UWY5 Hs.503500 1726527;1779732;2165053 G62644;RH66484;SHGC-153704 UNQ564 MVAL564;OTTHUMP00000230068;OTTHUMP00000230069;OTTHUMP00000230072;olfactomedin-like protein 1 protein-coding ENSG00000183801 24473 17661 VALIDATED 1350271 OLIG1 oligodendrocyte transcription factor 1 21 21 q22.11 33364443 33366596 + 34442450 34444728 + 1580863;6480464 17690840;17388669;17283288;17171653;16820418;16267213;15604411;15489334;14516699;12617822;12477932;11526205;11091082;10830953;10719889;23165259;21206754;21078624;21446039;21532573 116448 H7C404;Q8TAK6 AB209791;ABBA01057322;ABBA01057323;AL355743;AL834450;AMYH01012206;AP000289;AW298788;BC011252;BC026989;BC033290;BK000278;CH471079;NM_138983 AAH26989;AAH33290;ABM87827;BAD93028;CAD39110;DAA01058;EAX09848;NP_620450;Q8TAK6 Hs.56663 1802018;1802846;1823118;1825590;1829826;1846044;2025416;2025418;2025420;2025422;2025424;2025426;2025428;2025430;2025432;2025434;2025436;2025438;2025440;2025442;2025444;2025446;2025448;2025450;2025452;2025454 ECD01890;ECD02311;ECD12647;ECD13903;ECD16046;ECD24242;REN83708;REN83709;REN83710;REN83711;REN83712;REN83713;REN83714;REN83715;REN83716;REN83717;REN83718;REN83719;REN83720;REN83721;REN83722;REN83723;REN83724;REN83725;REN83726;REN83727 BHLHB6;BHLHE21 OTTHUMP00000067600;OTTHUMP00000199731;basic domain, helix-loop-helix protein, class B, 6;class B basic helix-loop-helix protein 6;class E basic helix-loop-helix protein 21;oligo1;oligodendrocyte lineage transcription factor 1;oligodendrocyte transcription factor 1;oligodendrocyte-specific bHLH transcription factor 1 protein-coding ENSG00000184221 16983 07333 606385 VALIDATED 1322385 OLFML3 olfactomedin-like 3 1 1 1 p13.2 112751267 112754112 + 114323553 114326398 + 114522030 114524875 + 6480464 15280020;14702039;12975309;12477932;8125298;16169070;16710414;16303743;16289162;15489334;23398349;20467438;23251661 56944 M1LAK4;Q9NRN5 ABBA01068459;AF201945;AK075353;AK075369;AK075479;AK075544;AK092766;AK222471;AK223221;AK297902;AL731797;AMYH01000964;AY358954;AY464015;BC009920;CH471122;CS051143;CS051313;KC237062;NM_020190 AAF86881;AAH09920;AAQ89313;AAR88262;ABM83707;ABM87027;AGF36554;BAC11564;BAC11644;BAC11687;BAD96191;BAD96941;BAG60222;CAI72067;CAI72151;EAW56594;EAW56595;NP_064575;Q9NRN5 Hs.9315 1849197;2126875;2190919 MARC_11517-11518:1001089492:1;SHGC-16738;SHGC-31969 HNOEL-iso;OLF44 OTTHUMP00000013761;hOLF44;olfactomedin-like protein 3 protein-coding ENSG00000116774 24956 14878 610088 VALIDATED 1314358 OLIG3 oligodendrocyte transcription factor 3 6 6 6 q23.3 138553474 138555669 - 137855029 137857224 - 137813336 137815531 - 6480464 11091082;18794853;17982456;15769945;15489334;14702039;14574404;14516699;12477932;20453841;21833088;20549515;18029348;19879194;20353580;20439292;20921970;22379092;23400010 167826 Q7RTU3 ABBA01025818;AK096362;AL023580;AMYH01016701;BC051352;BK000141;CH471051;NM_175747 AAH51352;ABZ92416;BAC04768;DAA00303;EAW47930;NP_786923;Q7RTU3 Hs.195398 2219232 OLIG3__6109 Bhlhb7;bHLHe20 OTTHUMP00000017288;class B basic helix-loop-helix protein 7;class E basic helix-loop-helix protein 20;oligo3;oligodendrocyte transcription factor 3 protein-coding ENSG00000177468 18003 17662 609323 PROVISIONAL 1316088 OLIG2 oligodendrocyte lineage transcription factor 2 This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008] 21 21 q22.11 33320109 33323370 + 34398216 34401504 + 1580863;6480464 19093005;18552083;18312545;17964117;17951409;17934761;17918228;17917751;17690840;17431671;17283288;17171653;17010574;16891421;16682644;16582099;16554441;16469306;16344560;16267213;16103065;15839736;15489334;15198128;14702039;14576772;14573534;12477932;11526205;11498220;10830953;10737801;18029348;19477230;19772605;20081802;16159877;23165259;21206754;21193945;21988832;23568457;21835431;21624811;21446039;22343408 10215 C9J444;Q13516 ABBA01057322;AF221520;AK091462;AMYH01012206;AP000286;AP000287;AU130620;BC034681;BC036245;BC036275;BC047511;CH471079;DA500051;NG_011834;NM_005806;R42179;U48250 AAC72247;AAF61215;AAH34681;AAH36245;AAH47511;BAG52365;EAX09851;NP_005797;Q13516 Hs.176977;Hs.732068 1649105;1730857;1802482;1803118;1805582;1807496;1812238;1822452;2025032;2025034;2025036;2025038;2025040;2025042;2025044;2025046;2025048;2025050;2025052;2025054;2025056;2025058;2025060;2025062;2025064;2025066;2025068;2025070;2025072;2025074;2025076;2025078;2100660;2100662;2100664;2100666 D21S392;ECD02127;ECD02450;ECD03739;ECD04720;ECD07126;ECD12314;REN83516;REN83517;REN83518;REN83519;REN83520;REN83521;REN83522;REN83523;REN83524;REN83525;REN83526;REN83527;REN83528;REN83529;REN83530;REN83531;REN83532;REN83533;REN83534;REN83535;REN83536;REN83537;REN83538;REN83539;STS-U48250;stSG606849;stSG606850;stSG606851;stSG606853 BHLHB1;OLIGO2;PRKCBP2;RACK17;bHLHe19 OTTHUMP00000067569;OTTHUMP00000067570;OTTHUMP00000196006;basic domain, helix-loop-helix protein, class B, 1;class B basic helix-loop-helix protein 1;class E basic helix-loop-helix protein 19;human protein kinase C-binding protein RACK17;oligodendrocyte transcription factor 2;oligodendrocyte-specific bHLH transcription factor 2;protein kinase C binding protein 2;protein kinase C-binding protein 2;protein kinase C-binding protein RACK17 APPROVED protein-coding ENSG00000205927 9398 07334 606386 REVIEWED 1351058 ONECUT3 one cut homeobox 3 19 19 19 p13.3 1687773 1709549 + 1704662 1726444 + 1753662 1775444 + 15057824;11944891;11181995;9915796 390874 O60422 ABBA01002681;ABBA01002682;ABBA01002683;ABBA01002684;AC004755;AC005256;AMYH01009259;AMYH01009260;AMYH01009261;AMYH01009262;AMYH01009263;AMYH01009264;CH471139;NM_001080488 AAC17602;EAW69464;NP_001073957;O60422 Hs.654347 OC3 OC-3;one cut domain family member 3;one cut domain, family member 3;transcription factor ONECUT-3 protein-coding 13399 611294 PROVISIONAL 731042 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] 12 12 p13.2-p12.3 10202166 10216057 - 10310899 10324790 - 1580992;628368;1580993;1580994;1580995;1580996;1580997;633385;1580863;6480464;7240710 12661921;12384456;16328515;15562935;12810610;12646194;12232563;9494115 21257822;12073608;19570417;19035131;16285995;16251892;16173915;16146427;16061745;16013913;15976314;15939022;15935375;15860461;15855339;15838273;15797645;15780115;15727724;15695803;15529384;15489334;15480893;15472120;15342556;15276231;15060104;15001526;15000751;14684693;12878212;12829655;12807963;12646204;12637341;12566375;12504834;12477932;12419941;12384789;12354387;9052782;19452449;19358829;19279231;19252093;19247493;19218767;19150883;19104003;19080712;18996102;18845619;18801483;18781352;18755461;18636435;18544637;18514661;18474940;18469066;18408244;18390905;18388896;18384690;18367271;18220661;18191942;18191876;18173546;18054331;18053692;17992634;17963022;17923264;17909223;17854420;17717293;17538005;17416594;17306253;17050011;17022953;16829343;16690797;16511086;16434026;22619487;21775114;11985903;11915516;11821063;11745369;11728449;11284714;11256994;11196705;11034947;10377073;10325241;10085242;9933026;9837956;9828121;9763655;9703956;9693095;20203069;15792802;16188066;19203752;19272636;19342029;19487339;19574336;19578796;19667111;19687346;19730000;19801851;19929426;19948975;19961348;20009034;20023241;20136518;20146162;20181930;20379614;20691427;20692795;21037509;21035571;19930880;19913121;20485444;20602615;20615707;20628086;21134342;21383245;21040737;21130456;21130457;22791762;22891927;21624357;21467660;21865331;21698300;21637860;21817106;22549450;22347434;21679701;21987572;21177197;22641216;22116101;21963094;22369967;21723858;21937834;22135361;19322201;22905453;21901421;22863784;22570368;23073138;23233095;23230281;23583401;23134583;23237633;22797935;22271373;22956623 4973 B7ZAN8;F5GZH1;F5H001;F5H0N6;F5H3G7;F5H7N8;J3QTI8;P78380 AB010710;AB102861;ABBA01067796;AC024224;AF035776;AF079164;AF079167;AJ131757;AK292124;AK295409;AK298040;AK308009;AK316353;AL551100;AMYH01004276;BC022295;BC055085;BP219342;BQ028409;CA309323;CB955704;CH471094;CS443020;DQ314885;JA885104;NG_016743;NM_001172632;NM_001172633;NM_002543 AAC82329;AAC97927;AAH22295;ABC40744;ABM82335;ABM85511;BAA24580;BAC81565;BAF84813;BAG58360;BAG60339;BAH14724;CAB38175;CAL68889;CCQ77677;EAW96156;EAW96157;EAW96158;EAW96159;NP_001166103;NP_001166104;NP_002534;P78380 Hs.412484 1337969;1671382;2120590 D12S1696;RH68316;STS-N51624 CLEC8A;LOX1;LOXIN;SCARE1;SLOX1 C-type lectin domain family 8 member A;OTTHUMP00000238950;OTTHUMP00000238954;OTTHUMP00000238955;OTTHUMP00000238958;hLOX-1;lectin-type oxidized LDL receptor 1;ox LDL receptor 1;oxidised low density lipoprotein (lectin-like) receptor 1;oxidized low-density lipoprotein receptor 1;oxidized low-density lipoprotein receptor 1, soluble form;scavenger receptor class E, member 1 APPROVED protein-coding ENSG00000173391 8133 04003 602601;608446 REVIEWED 736115 OMD osteomodulin 9 9 9 q22.31 65618561 65628868 - 94216359 94226381 - 95176527 95186836 - 1580863;6480464 15489334;14673660;12975309;12489179;12477932;10913920;9566981;8125298;19700767 4958 Q99983 AB000114;AB009589;ABBA01018585;AK225922;AK313055;AL137848;AMYH01021508;AY358872;BC046356;CH471089;NM_005014 AAH46356;AAQ89231;BAA19055;BAA23982;BAG35886;EAW62821;NP_005005;Q99983 Hs.94070 1646952;2106549 OMD__6110;STS-N30894 OSAD;SLRR2C KSPG osteomodulin;OTTHUMP00000021653;keratan sulfate proteoglycan osteomodulin;osteoadherin proteoglycan;osteomodulin;osteomodulin (osteoadherin) protein-coding ENSG00000127083 8134 10128 VALIDATED 6481413 OPA1-AS1 OPA1 antisense RNA 1 3 193336388 193345121 - 11329013 100873941 ABBA01058287;AC048351;AMYH01013773;BG203156;BG204670;NR_046634 Hs.679364 APPROVED miscrna ENSG00000224855 40421 VALIDATED 1354152 OPA2 optic atrophy 2 (obscure) 7240710 9382106 4977 1299932;1341766;7187463 DXS991;DXS993 8141 1352154 OMG oligodendrocyte myelin glycoprotein 17 17 q11.2 26645794 26648481 - 29621668 29624380 - 1580863;6480464 12716421;19034380;17632510;16425041;16344560;15489334;12566166;12477932;12068310;8244377;8125298;3283151;2277079;1899288;1688857;21534343;12426574;12692556;12951563;17335080 4974 P23515;Q53HB8 ABBA01014963;AC134669;AK222663;AK312445;AMYH01008320;BC018050;BG704091;CH471147;DA206834;M63623;NG_009018;NM_002544;X51694;X57436 AAA59970;AAH18050;ABM83257;ABM86461;BAD96383;CAA35991;CAA40684;EAW80279;EAW80280;NP_002535;P23515 Hs.113874 1653810;2106551;2126697 OMG__6111;RH17724;UniSTS:495849 OMGP OTTHUMP00000163770;oligodendrocyte-myelin glycoprotein protein-coding ENSG00000126861 8135 01257 164345 VALIDATED 732947 ONECUT1 one cut homeobox 1 This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 15 15 q21.3 50836645 50869501 - 53049353 53082209 - 729198;1580863;6480464;6907045 8790352 10491763;18459945;18097590;17283222;15520459;15304484;14988562;14570708;12509444;12477932;12379144;11279202;10825208;10811635;10430878;9915796;9231664;8887657;20967225;21893194;15342556;21920465;22271799 3175 H0YMS2;Q9UBC0 AA699732;ABBA01039054;ABBA01039055;AC016044;AF035581;AMYH01006653;BC140830;BP289459;BX118406;CH471082;EU532019;NM_004498;NR_073510;U77975;U96173;Y17739 AAB61705;AAD00826;AAD02033;AAI40831;ACB30402;CAB50769;EAW77461;NP_004489;Q9UBC0 Hs.658573 1646377;1664640;1665737;1721357;1722623;1794938;2106553 G59678;G60395;ONECUT1__6113;PMC85812P3;RH45256;WI-18148;WI-18317 HNF-6;HNF6;HNF6A OTTHUMP00000162725;hepatocyte nuclear factor 6;hepatocyte nuclear factor 6, alpha;one cut domain family member 1;one cut domain, family member 1 protein-coding ENSG00000169856 8138 05002 604164 REVIEWED 1351084 OOEP oocyte expressed protein 6 6 6 q13 74472826 74474063 - 74134997 74136236 - 74078278 74079515 - 6480464 17913455;12477932;11181995 441161 A6NGQ2;C9J915;F2Z364 ABBA01040314;AC019205;AMYH01016425;BC024931;BX093821;CH471051;EU290647;NM_001080507 A6NGQ2;ABX84389;EAW48772;NP_001073976 Hs.671212 1813496;1814014;1814090;1845290;1846260;1923460;1923462;1923464;1923466;1923468;1923470;1923472;1923474;1923476;1923478;1923480;1923482;1923484;1923486;1923488;1923656;2207238;2207240 ECD07769;ECD08034;ECD08074;ECD23862;ECD24350;REN32554;REN32555;REN32556;REN32557;REN32558;REN32559;REN32560;REN32561;REN32562;REN32563;REN32564;REN32565;REN32566;REN32567;REN32568;REN32652;stSG625847;stSG625848 C6orf156;FLOPED;HOEP19;KHDC2 KH homology domain containing 2;KH homology domain-containing protein 2;OTTHUMP00000196134;oocyte and embryo protein 19;oocyte expressed protein homolog (dog);oocyte- and embryo-specific protein 19;oocyte-expressed protein homolog APPROVED protein-coding 21382 611689 VALIDATED 6481047 OPCML-IT1 OPCML intronic transcript 1 (non-protein coding) 100874333 AP003972 miscrna 41366 6481044 OPCML-IT2 OPCML intronic transcript 2 (non-protein coding) 100874332 AP005122 miscrna 41365 1343134 OPEM ophthalmoplegia, external, with myopia 7240710 4981 8146 1354460 ONECUT2 one cut homeobox 2 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 51819929 51875634 + 53253915 53309528 + 55102917 55158530 + 1580863;6480464 9915796;18418398;18288132;16912168;14702039;12477932;11478782;19336002 9480 H7C5F3;J3KR63;O95948 ABBA01056131;AC090340;AK021717;AK124558;AMYH01009022;BC013134;BC108925;BC108926;CH471096;NM_004852;Y18198 CAB38253;EAW63045;NP_004843;O95948 Hs.194725 2108851;2153487 D18S1054;ONECUT2_8947 MGC120377;MGC120378;OC-2;OC2 HNF-6-beta;ONECUT-2 homeodomain transcription factor;OTTHUMP00000216457;hepatocyte nuclear factor 6-beta;one cut domain family member 2;one cut domain, family member 2;onecut 2;transcription factor ONECUT-2 APPROVED protein-coding ENSG00000119547 8139 05354 604894 REVIEWED 734264 OMP olfactory marker protein Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008] 11 11 11 q13.5 74121370 74121861 + 76491534 76492025 + 76813886 76814377 + 1580863;737796;6480464 8790421 15489334;12911636;12477932;12054873;8754248;8499899;8034318;17207965;19913121;20628086 4975 P47874 ABBA01017439;AMYH01003823;AP000752;BC069115;BC069365;CH471076;NG_033002;NM_006189;U01212 AAA20485;AAH69115;AAH69365;ADQ32896;EAW75017;NP_006180;P47874 Hs.673853 1660070;2107453;2220364 OMP__7185;RH70524;UniSTS:480807 OTTHUMP00000228840;olfactory marker protein;olfactory neuronal-specific protein APPROVED protein-coding ENSG00000254550 8136 01254 164340 REVIEWED 1346667 OPN1LW opsin 1 (cone pigments), long-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008] X X q28 153062939 153077701 + 153409725 153424507 + 1580863;6893536;7240710 21704730 3303660;9860863;2937147;7643192;19493002;19386593;17655910;16020309;15772651;15252758;12107411;12051694;11181995;11063754;9541545;9430642;8889548;8857542;8792812;8213841;8146162;7566098;2501212;1617223;1557123;14517278;20220053;20801516;20880066;20579627;14691252;18240029;19189139;20075512;21451022;23139274;21267011;22183383;20301478;22732407 5956 B1B1F0;P04000 ABBA01045305;ABBA01045306;AC244097;AMYH01023307;AMYH01023308;AMYH01023309;AW950066;BM688032;BQ637240;CH471172;CR749814;EL949562;EL952084;M13301;M13305;NG_009105;NM_020061;Z68193 AAB59524;AAI56644;CAA92342;CAH18674;CAM28377;EAW72756;NP_064445;P04000 Hs.592247 1703136;1792506;1810412;1810918;1824796;2036084;2036086;2036088;2036090;2036092;2036094;2036096;2036100;2036102;2036104;2036106;2036108;5112019 ECD06199;ECD06457;ECD13496;G44366;GDB:452917;PMC152297P2;REN89051;REN89052;REN89053;REN89054;REN89055;REN89056;REN89057;REN89059;REN89060;REN89061;REN89062;REN89063 CBBM;CBP;COD5;RCP;ROP OTTHUMP00000032193;ROP;cone dystrophy 5 (X-linked);long-wave-sensitive opsin 1;red cone photoreceptor pigment;red-sensitive opsin APPROVED protein-coding ENSG00000102076 9936 02366 300822;303700;303900 REVIEWED 1345567 OPHN1 oligophrenin 1 This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008] X X q12 67179440 67570372 - 67262186 67653299 - 1580863;6480464;7240710 15772651;9582072;18930891;18261018;18029348;17845870;16221952;15026118;15342556;12807966;12805098;12777533;12477932;11998687;11595131;11161835;10818214;10439959;9195162;20528889;19911011;20479760;21796728;22238370 4983 F5H2E3;O60890 AB102191;AB102192;AB102193;AB102194;AB102195;AB102196;AB102197;AB102198;AB102199;AB102200;AB102201;AB102202;AB102203;AB102204;AB102205;AB102206;AB102207;AB102208;AB102209;AB102210;AB102656;ABBA01067293;ABBA01067294;ABBA01067295;ABBA01067296;ABBA01067297;ABBA01067298;ABBA01067299;ABBA01067300;ABBA01067301;ABBA01067302;ABBA01067303;ABBA01067304;ABBA01067305;ABBA01067306;ABBA01067307;ABBA01067308;ABBA01067309;ABBA01067310;ABBA01067311;ABBA01067312;ABBA01067313;ABBA01067314;ABBA01067315;ABBA01067316;ABBA01067317;ABBA01067318;ABBA01067319;ABBA01067320;ABBA01067321;ABBA01067322;ABBA01067323;ABBA01067324;ABBA01067325;ABBA01067326;ABBA01067327;ABBA01067328;ABBA01067329;ABBA01067330;ABBA01067331;ABBA01067332;ABBA01067333;ABBA01067334;ABBA01067335;ABBA01067336;ABBA01067337;ABBA01067338;ABBA01067339;ABBA01067340;ABBA01067341;ABBA01067342;ABBA01067343;ABBA01067344;ABBA01067345;ABBA01067346;ABBA01067347;ABBA01067348;ABBA01067349;ABBA01067350;ABBA01067351;ABBA01067352;AJ001189;AJ248245;AJ248267;AK295769;AK309665;AK309696;AL157700;AL158201;AL672138;AMYH01022517;AMYH01022518;AX022628;AX022629;BC059393;BC140763;BP357826;CH471132;NG_008960;NM_002547;Z82203 AAH59393;AAI40764;BAC80690;BAC80691;BAC80692;BAC80693;BAC80694;BAC80695;BAC80696;BAC80697;BAC80698;BAC80699;BAC80700;BAC80701;BAC80702;BAC80703;BAC80704;BAC80705;BAC80706;BAC80707;BAC80708;BAC80709;BAC81125;BAG58594;CAA04579;CAB96181;CAC07882;EAX05378;NP_002538;O60890 Hs.128824 1666781;1679782;1689440;1701806;1702370;1702722;1702978;1703050;1713027;1729243;1729249;1729251;1729261;1729337;1729339;1729341;1729871;1741613;1742279;1777583;1849222;1852172;2119427;2124482;2136780;2141311;2156642;2167650;5015619;5018983;5022637;5118147 A004A36;AL033784;D11S2766;D11S3017;D11S3114;DXS1160;DXS2493;DXS7497;DXS896;DXS897;DXS905;DXS908;DYS416;G64120;G64121;G64122;G64123;G64125;G64126;G64127;GDB:181567;GDB:194746;L77752;PGK1P1;RH10979;RH120295;RH36157;RH64534;RH67878;RH79992;WI-12732;WI-19211 ARHGAP41;MRX60;OPN1 OTTHUMP00000023451;mental retardation, X-linked 60;oligophrenin-1;oligophrenin-1, Rho-GTPase activating protein APPROVED protein-coding ENSG00000079482 8148 02130 300127;300486 REVIEWED 1605739 OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009] X X X q28 153643342 153658175 + 153138461 153151953 + 153485203 153498755 + 1302020;2937147;10319869;19493002;15772651;3303660;12853434;18240029;8857542 728458 H0Y642;P04001 AC092402;AC244097;AMYH01023315;NM_001048181 NP_001041646;P04001 Hs.571751 1703136;1792506;1810412;1810918;1824796;2036084;2036086;2036088;2036090;2036092;2036094;2036096;2036098;2036100;2036102;2036104;2036106;2036108;2102372;2102374;2102376;2102378;2102382;2102384;2102388;5112019 ECD06199;ECD06457;ECD13496;G44366;GDB:452917;PMC152297P2;REN89051;REN89052;REN89053;REN89054;REN89055;REN89056;REN89057;REN89058;REN89059;REN89060;REN89061;REN89062;REN89063;stSG603854;stSG603855;stSG603858;stSG603859;stSG603882;stSG603885;stSG603914 GOP;OPN1MW GOP;OTTHUMP00000026023;green cone photoreceptor pigment;green-sensitive opsin;medium-wave-sensitive opsin 1 APPROVED protein-coding ENSG00000166160 26952 REVIEWED 733077 OPLAH 5-oxoprolinase (ATP-hydrolysing) The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012] 8 8 q24.3 145178155 145186959 - 145106167 145115584 - 1580863;6480464;6907045 21651516;15146197;14993790;12477932;20413906;21886157 26873 O14841;Q9HBQ9 AB122018;ABBA01005226;AC109322;AF217994;AL096750;AMYH01019125;BC036944;BC041576;BC142672;BC150206;CN279004;NG_032671;NM_017570 AAG17236;AAI40371;AAI42673;AAI50207;BAD13434;CAB46426;NP_060040;O14841 Hs.305882 5-Opase;DKFZp434H244;OPLA;OPLAHD 5-oxo-L-prolinase;5-oxoprolinase;OTTHUMP00000229752;pyroglutamase APPROVED protein-coding 8149 14880 260005;614243 REVIEWED 736424 OPN1SW opsin 1 (cone pigments), short-wave-sensitive This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008] 7 7 q32.1 128199783 128203087 - 128412543 128415844 - 1580863;6480464;6893536;7240710 21704730 9089077;2937147;19493002;19386593;16961973;12809157;12690205;8889548;8270261;3485310;3303660;2565599;1742276;1531728;1386496;18240029;19189139;20801516;23022137 611 P03999;Q0PJU0 AACC02000035;ABBA01057656;AC024952;AMYH01017924;BM666330;CH236950;CH471070;DQ822478;L32835;M13299;M26172;NG_009094;NM_001708;U53874 AAA35608;AAB05207;AAC51334;AAI56720;AAL31362;ABH01259;EAL24112;EAW83680;NP_001699;P03999 Hs.656404 1645033;1661898;1666259 BCP;RH66822;STS-M13299 BCP;BOP;CBT OTTHUMP00000212782;blue cone photoreceptor pigment;blue-sensitive opsin;opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan);short-wave-sensitive opsin 1 APPROVED protein-coding ENSG00000128617 1012 01836 190900;613522 REVIEWED 1317163 OPALIN oligodendrocytic myelin paranodal and inner loop protein 10 10 10 q23-q24 91844157 91860285 - 98092963 98109082 - 98102973 98119092 - 1580863;6480464 11256614;18490449;17442045;16381901;16344560;15489336;15489334;12477932;11814680;11230166;11076863;15840729 93377 A8MX69;Q96PE5 ABBA01021830;AF367761;AK289835;AK296462;AK296562;AK309095;AK311260;AK316090;AL136181;AL834229;AMYH01002971;BC024191;BC033737;CH471066;DA314221;DA402678;NM_001040102;NM_001040103;NM_033207 AAH33737;AAK62349;BAF82524;BAG59108;BAG59182;BAH14461;CAD38907;CAL37624;CAL37930;EAW49977;EAW49978;NP_001035191;NP_001035192;NP_149984;Q96PE5 Hs.12449 1646915;1655002;1740013;2155860;5022578;5022588;5037552 A008W15;A008W28;D10S1626;D1S1423;D5S1597E;D8S2279;RH11224 HTMP10;TMEM10;TMP10 OTTHUMP00000020170;transmembrane protein 10;transmembrane protein TMP10 protein-coding ENSG00000197430 20707 15521 VALIDATED 1347075 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009] X X q28 153101361 153114725 + 153448085 153462352 + 1580863;6480464;6893536;7240710 21704730 19386593;16020309;12853434;12477932;12051694;10319869;9815288;9494086;8857542;8792812;7643192;3303660;2937147;2574415;1302020;20220053;19189139;19956635;20579627;23139274;21267011;22183383;20301478 2652 H0Y642;P04001 AC092402;AC244097;AMYH01023315;BC140938;BC143790;BC171754;BC171755;K03494;K03497;NG_011606;NM_000513;X54675 AAB59503;AAB59525;AAI40939;AAI43791;AAI56777;AAI71754;AAI71755;CAA38486;NP_000504;P04001 Hs.247787 1824796;2036108;5112019 ECD13496;G44366;REN89063 CBBM;CBD;COD5;GCP;GOP;MGC176615;MGC177321;MGC198468;MGC198469;OPN1MW1;OPN1MW2 GOP;OTTHUMP00000024237;cone dystrophy 5 (X-linked);green cone photoreceptor pigment;green cone pigment;green-sensitive opsin;medium-wave-sensitive opsin 1;opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan);photopigment apoprotein APPROVED protein-coding 4206 02365 300821;303700;303800 REVIEWED 1319326 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 q13.32 50722865 50779962 - 46031025 46088122 - 1580863;6480464;7240710 15342707;11668429;19319978;16838891;16381901;16344560;15489336;15489334;14702039;13703570;12477932;12126933;11076863;9097959;8889548;20350831;20372962;11256614;12865426;18614015;20801516;20877624;21036400;20301646;21832049;22064162 80207 B4DK77;Q9H6K4 ABBA01040935;AC006117;AC006261;AC011480;AK025840;AK098798;AMYH01009853;BC005059;BC047316;BC064146;BU617706;CA944687;CH471126;CS300703;DB034102;NG_013332;NM_001017989;NM_025136 AAH05059;AAH47316;AAH64146;ACE86958;BAB15255;BAC05415;CAK32367;CAL37564;EAW57367;NP_001017989;NP_079412;Q9H6K4 Hs.466945;Hs.723713 1720801;2153407;2219236;5015404;5015619;5015961;5016478;5016596;5017433;5020946;5020948;5022322;5022450;5022463;5022578;5024039;5024761;5037552;5037554;5109281;5120445 D10S275;D11S2560;D11S3114;D15S1477;D16S325;D1S1423;D1S1425;D3S1673;D8S2279;D8S2282;G35510;G59376;GDB:315973;GDB:434012;GDB:631802;L17705;L17971;OPA3__6115;RH36905;RH66765;STS-T76997 FLJ22187;FLJ25932;MGA3;MGC75494 Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus');optic atrophy 3 protein APPROVED protein-coding ENSG00000125741 8142 05956 165300;258501;606580 REVIEWED 1344166 OPA1 optic atrophy 1 (autosomal dominant) This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 3 3 q28-q29 194793806 194898009 + 193310933 193415600 + 1580863;6480464;7240710 22433900;11017080;12509422;11847212;12504110;19409380;19319978;19181907;19165527;19112530;19046944;19029523;18783614;18678599;18653586;18488399;18360822;18287570;18222991;18204809;18158317;18079692;18076378;18065439;17826766;17724190;17722006;17718388;17709430;17709429;17615298;17579882;17545159;17415700;17318099;17306754;17188070;17188046;17024226;17016536;17003040;16785854;16778770;16737747;16617242;16513463;16344560;16331355;16323009;16240368;16158427;16115883;16021496;16006781;15832306;15700187;15635063;15534475;15531309;15505825;15489334;15356267;15146197;15144186;14970223;14702039;14644237;14566653;14551537;14516807;21145461;12842213;12566046;12543739;12477932;12161614;12123827;12073024;12036970;11810296;11810270;11735024;11440989;11017079;9917792;9628581;9490303;20417568;20417570;20385391;20484224;20436456;20843780;19325939;19493956;19581274;19619285;19733158;19754948;19969356;20157015;20157369;20357201;20877624;21036400;20301426;20837821;21203403;20974897;21457585;17342744;21552501;21731710;22658590;23250881;21832049;22879959;22939629;22800932;22857269;22993284;20952381;21112924;22902477;21378995;21745197;22042570;22382025;21796221;21139048;21890473;21906983;21980395;19805454;21150319;21963094;21636302;21798574;22671293;21828197;19322201;23108376;23138851;18729074;22197506 4976 A8MXB6;C9JMB8;C9JY58;E5KLJ5;E5KLJ6;E5KLJ7;E5KLJ9;E5KLK0;E5KLK1;E5KLK2;H7C141;H7C321;H7C3G2;O60313 AB011139;ABBA01058285;ABBA01058286;ABBA01058287;AC048351;AC069421;AC106710;AF416919;AF416920;AK022107;AK022522;AMYH01013773;BC035393;BC043443;BC058013;BC075805;BQ774938;CH471052;CN314824;DA993450;FB714787;FB714791;FB714793;FB714795;HQ204906;HQ204907;HQ204908;HQ204909;HQ204910;HQ204911;HQ204912;HQ204913;HQ204914;HQ204915;HQ204916;HQ204917;HQ204918;HQ204919;HQ204920;HQ204921;HQ204922;HQ204923;HQ204924;HQ204925;HQ204926;HQ204927;HQ204928;HQ204929;HQ204930;HQ204931;HQ204932;HQ204933;HQ204934;HQ204935;HQ204936;HQ204937;HQ204938;HQ204939;HQ204940;HQ204941;HQ204942;HQ204943;HQ204944;HQ204945;NG_011605;NM_015560;NM_130831;NM_130832;NM_130833;NM_130834;NM_130835;NM_130836;NM_130837 AAH58013;AAH75805;ADP90054;ADP90055;ADP90056;ADP90057;ADP90058;ADP90059;ADP90060;ADP90061;ADP90062;ADP90063;ADP90064;ADP90065;ADP90066;ADP90067;ADP90068;ADP90069;ADP90070;ADP90071;ADP90072;ADP90073;ADP90074;ADP90075;ADP90076;ADP90077;ADP90082;ADP90083;ADP90084;ADP90085;ADP90086;ADP90087;ADP90088;ADP90089;ADP90090;ADP90091;ADP90092;ADP90093;ADP90094;ADP90095;ADP90096;ADP90097;ADP90098;ADP90099;ADP90100;ADP90101;ADP90102;ADP90103;ADP90104;ADP90105;ADP90106;ADP90107;ADP90108;ADP90109;ADP90110;ADP90111;ADP90112;ADP90113;ADP90114;ADP90115;ADP90116;ADP90117;ADP90118;ADP90119;ADP90120;ADP90121;ADP90122;ADP90123;ADP90124;ADP90125;ADP90130;ADP90131;ADP90132;ADP90133;ADP90138;ADP90139;ADP90140;ADP90141;ADP90142;ADP90143;ADP90144;ADP90145;ADP90146;ADP90147;ADP90148;ADP90149;ADP90150;ADP90151;ADP90152;ADP90153;ADP90154;ADP90155;ADP90156;ADP90157;ADP90162;ADP90163;ADP90164;ADP90165;ADP90166;ADP90167;ADP90168;ADP90169;ADP90170;ADP90171;ADP90172;ADP90173;ADP90174;ADP90175;ADP90176;ADP90177;ADP90178;ADP90179;ADP90180;ADP90181;ADP90182;ADP90183;ADP90184;ADP90185;ADP90186;ADP90187;ADP90188;ADP90189;ADP90190;ADP90191;ADP90192;ADP90193;ADP90194;ADP90195;ADP90196;ADP90197;ADP90198;ADP90199;ADP90200;ADP90201;ADP90202;ADP90203;ADP90204;ADP90205;ADP90206;ADP90207;ADP90208;ADP90209;ADP90210;ADP90211;ADP90212;ADP90213;ADP90214;ADP90215;ADP90216;ADP90217;ADP90218;ADP90219;ADP90220;ADP90221;ADP90222;ADP90223;ADP90224;ADP90225;ADP90226;ADP90227;ADP90228;ADP90229;ADP90234;ADP90235;ADP90236;ADP90237;ADP90238;ADP90239;ADP90240;ADP90241;ADP90242;ADP90243;ADP90244;ADP90245;ADP90246;ADP90247;ADP90248;ADP90249;ADP90250;ADP90251;ADP90252;ADP90253;ADP90258;ADP90259;ADP90260;ADP90261;ADP90262;ADP90263;ADP90264;ADP90265;ADP90266;ADP90267;ADP90268;ADP90269;ADP90270;ADP90271;ADP90272;ADP90273;ADP90274;ADP90275;ADP90276;ADP90277;ADP90278;ADP90279;ADP90280;ADP90281;ADP90282;ADP90283;ADP90284;ADP90285;ADP90286;ADP90287;ADP90288;ADP90289;ADP90290;ADP90291;ADP90292;ADP90293;ADP90294;ADP90295;ADP90296;ADP90297;ADP90298;ADP90299;ADP90300;ADP90301;ADP90306;ADP90307;ADP90308;ADP90309;ADP90310;ADP90311;ADP90312;ADP90313;ADP90314;ADP90315;ADP90316;ADP90317;ADP90318;ADP90319;ADP90320;ADP90321;ADP90322;ADP90323;ADP90324;ADP90325;ADP90326;ADP90327;ADP90328;ADP90329;ADP90330;ADP90331;ADP90332;ADP90333;ADP90334;ADP90335;ADP90336;ADP90337;ADP90338;ADP90339;ADP90340;ADP90341;ADP90342;ADP90343;ADP90344;ADP90345;ADP90346;ADP90347;ADP90348;ADP90349;ADP90350;ADP90351;ADP90352;ADP90353;ADP90354;ADP90355;ADP90356;ADP90357;ADP90358;ADP90359;ADP90360;ADP90361;ADP90362;ADP90363;ADP90364;ADP90365;ADP90366;ADP90367;ADP90368;ADP90369;ADP90370;ADP90371;ADP90372;ADP90373;BAA25493;CAS91638;CAS91640;CAS91641;CAS91642;EAW78064;EAW78065;EAW78066;EAW78067;EAW78068;EAW78069;EAW78070;EAW78071;EAW78072;NP_056375;NP_570844;NP_570845;NP_570846;NP_570847;NP_570848;NP_570849;NP_570850;O60313 Hs.594504 1672296;1773438;1856096;1856102;2116792;2173785;2185791;2219234;5022200;5022578;5037552 D1S1423;D8S2279;L18426;OPA1__6114;RH36294;RH78614;SGC38140;SHGC-31084;SHGC-37414;SHGC-77667;SHGC-77668 FLJ12460;KIAA0567;MGM1;NPG;NTG;largeG OTTHUMP00000195064;OTTHUMP00000195065;dynamin-like 120 kDa protein, mitochondrial;dynamin-like guanosine triphosphatase;mitochondrial dynamin-like 120 kDa protein;mitochondrial dynamin-like GTPase;optic atrophy protein 1 APPROVED protein-coding ENSG00000198836 8140 05596 125250;165500;605290;606657 REVIEWED 731961 OPRD1 opioid receptor, delta 1 1 1 p36.1-p34.3 29011241 29062795 + 29138654 29190208 + 1580863;2316589;2316590;2316587;2316592;6480464 12710986;12136724;12798419;10900218 11259487;11085981;11078827;11076863;11076532;11069979;11040053;10982041;10385123;9166747;8415697;8393523;8201839;8020949;1671672;1335167;9548483;7808419;10788493;19344370;19183129;19086053;19058789;19032295;19000170;18753988;18703511;18687376;18676680;18537939;18518925;18455254;18395423;18307412;18213616;18200497;18182056;17622222;17588601;17565992;17550902;17503481;17374034;16808998;16806108;16741914;16710414;16331961;16053916;15317820;15086532;14999000;14745298;14535952;12847517;12740597;12477932;12413885;12142540;12116270;11316510;11278447;11259507;21810780;16325578;18240029;19170196;19416973;19520863;19581316;19625176;19692168;19874574;20066010;20237496;20468064;2834384;20300121;20528919;20734064;21079607;18577758;21361347;21464208;21234650;19433584;21220103;22184124;22235275;22101011;22752269;11054417;18338799;21483469;23222260 4985 D2CGC9;P41143 ABBA01035064;AL009181;AMYH01000439;BF434068;CH471059;EF057065;EU883570;NM_000911;U07882;U10504 AAA18789;AAA83426;AAI11839;ABO25742;ACG60644;EAX07672;NP_000902;P41143 Hs.372 5117328 GDB:511375 OPRD D-OR-1;DOR-1;OTTHUMP00000003778;delta opioid receptor 1;delta-type opioid receptor protein-coding ENSG00000116329 8153 01308 165195 VALIDATED 1345705 OPN3 opsin 3 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008] 1 1 1 q43 215011455 215058805 - 239823075 239870324 - 241756452 241803701 - 1580863;6480464 8889548;10234000;18344558;16710414;15489334;14623461;12477932;12242008;12063405;11401433;18240029;19626040;22313545 23596 Q6P5W7;Q9H1Y3 ABBA01033251;ABBA01033252;ABBA01033253;AF140242;AF303588;AF482426;AK310307;AL133390;AMYH01001875;BC036773;BC051900;BC062622;BC073872;BM679966;CB989739;CH471098;NM_014322 AAD32671;AAH36773;AAH62622;AAH73872;AAK37447;AAO15715;AAO15717;EAW70097;EAW70098;EAW70099;NP_055137;Q9H1Y3 Hs.409081 1648696;1687339;1692072;1752805;1772178;2130904;2160185;2161349;2177017;2182985;2185614;2189949;2219868 99-1638;AL033675;D1S3591;KMO__6342;RH99149;SHGC-106687;SHGC-12642;SHGC-33718;SHGC-76595;SHGC-76597;SHGC-76599;SHGC-76600;SHGC-76603 ECPN OTTHUMP00000037645;encephalopsin;opsin 3 (encephalopsin, panopsin);opsin-3 APPROVED protein-coding ENSG00000054277 14007 05985 606695 REVIEWED 68657 OPRL1 opiate receptor-like 1 The protein encoded by this gene is a G protein-coupled receptor whose expression can be induced by phytohemagglutinin. The encoded integral membrane protein is a receptor for the 17 aa neuropeptide nociceptin/orphanin FQ. This gene may be involved in the regulation of numerous brain activities, particularly instinctive and emotional behaviors. A promoter for this gene also functions as a promoter for another gene, regulator of G-protein signalling 19 (RGS19), located on the opposite strand. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2011] 20 20 q13.33 62181932 62202440 + 62711471 62731996 + 1580863;6480464 10571060;10965058;7566152;8137918;19058789;18286384;18269382;18247127;17910740;17456499;17167337;16807742;16800795;15489334;15276231;15016723;14660000;12801588;12576178;12568343;12477932;12399106;12393946;12130708;11780052;11238602;11097863;11090272;10998524;10692489;9862775;7500847;15086532;2834384;20888736;20682755;15146197;18577758;18191876;18240029;19501074;19874574;20032820;9521323;23086955;21709374;21656184;22596163;22849833 4987 P41146;Q8IXB0 ABBA01018567;AF115266;AF126470;AF217689;AF285093;AF285094;AF285095;AF348323;AK308203;AL121581;AL590548;AMYH01012098;AMYH01012099;AW451157;AY268428;BC038433;CH471077;CN267465;CR542061;CR542082;L40949;NM_000913;NM_001200019;NM_182647;U30185;X77130 AAA84913;AAA96251;AAG42351;AAG42691;AAG42692;AAG42693;AAH38433;AAK11714;AAL54890;AAO13224;AAP23195;ABM84132;ABM84133;ABW03593;CAA54386;CAG46858;CAG46879;EAW75162;EAW75163;NP_000904;NP_001186948;NP_872588;P41146 Hs.2859;Hs.736944 1677038;1697106;1769974;1796434;2132202 G10715;OPRL1_1278;RH102037;RH66077;SHGC-12017 KOR-3;MGC34578;NOCIR;OOR;ORL1 LC132 receptor-like;OTTHUMP00000031640;OTTHUMP00000031641;OTTHUMP00000031642;kappa-type 3 opioid receptor;kappa3-related opioid receptor;nociceptin receptor;orphanin FQ receptor APPROVED protein-coding ENSG00000125510 8155 03971 602548 REVIEWED 731778 OPCML opioid binding protein/cell adhesion molecule-like This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily. The encoded protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q25 131790085 132907613 - 132284875 133402403 - 1580863;6480464;7240710 1333602;7721093;7891157;18714356;18584347;18179137;17967182;17239010;17159813;17109515;16384911;15489334;15146195;14702039;12819783;12477932;9110174;8619474;8244387;19913121;20628086;20379614;17500595;22585860;21273058;22589738;21833655;23144326;23275563;23470693 4978 A8K0Y0;B2CZX2;B7ZLQ1;Q14982 ABBA01009005;ABBA01009006;ABBA01009007;ABBA01009008;AF070577;AK125185;AK289695;AK299528;AK299908;AK314077;AK315859;AK316273;AK316491;AMYH01004139;AMYH01004140;AMYH01004141;AMYH01004142;AMYH01004143;AP000843;AP000863;AP000903;AP003029;AP003784;AP003972;AP004606;AP004782;AP005122;AP005133;AP005638;BC074742;BC074773;BC117254;BC126251;BC143945;BC143946;BX537377;CH471065;EU562295;EU562296;EU562297;EU562298;EU562299;EU562300;L34774;NG_012107;NM_001012393;NM_002545;U79251;W39242 AAA36387;AAH74742;AAH74773;AAI17255;AAI26252;AAI43946;AAI43947;ACB56655;ACB56656;ACB56657;ACB56658;ACB56659;ACB56660;BAF82384;BAF98750;BAG61477;BAG61748;BAH14644;BAH14862;CAD97619;EAW67804;EAW67805;NP_001012393;NP_002536;Q14982 Hs.4817 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32;REN41533;REN41534;REN41535;REN41536;REN41537;REN41538;REN41539;REN41540;REN41541;REN41542;REN41543;REN41544;REN41545;REN41546;REN41547;REN41548;REN41549;REN41550;REN41551;REN41552;REN41553;REN41554;REN41555;REN41556;REN41557;REN41558;REN41559;REN41560;REN41561;REN41562;REN41563;REN41564;REN41565;REN41566;REN41567;REN41568;REN41569;REN41570;REN41571;REN41572;REN41573;REN41574;REN41575;REN41576;REN41577;REN41578;REN41579;REN41580;REN41581;REN41582;REN41583;REN41584;REN41585;REN41586;REN41587;REN41588;REN41589;REN41590;REN41591;REN41592;REN41593;REN41594;REN41595;REN41596;REN41597;REN41598;REN41599;REN41600;REN41601;REN41602;REN41603;REN41604;REN41605;REN41606;REN41607;REN41608;REN41609;REN41610;REN41611;REN41612;REN41613;REN41614;REN41615;REN41616;REN41617;REN41618;REN41619;REN41620;REN41621;REN41622;REN41623;REN41624;REN41625;REN41626;REN41627;REN41628;REN41629;REN41630;REN41631;REN41632;REN41633;REN41634;REN41635;REN41636;REN41637;REN41638;REN41639;REN41640;REN41641;REN41642;REN41643;REN41644;REN41645;REN41646;REN41647;REN41648;REN41649;REN41650;REN41651;REN41652;REN41653;REN41654;REN41655;REN41656;REN41657;REN41658;REN41659;REN41660;REN41661;REN41662;REN41663;REN41664;REN41665;REN41666;REN41667;REN41668;REN41669;REN41670;REN41671;REN41672;REN41673;REN41674;REN41675;REN41676;REN41677;REN41678;REN41679;REN41680;REN41681;REN41682;REN41683;REN41684;REN41685;REN41686;REN41687;REN41688;REN41689;REN41690;REN41691;REN41692;REN41693;REN41694;REN41695;REN41696;REN41697;REN41698;REN41699;REN41700;REN41701;REN41702;REN41703;REN41704;REN41705;REN41706;REN41707;REN41708;REN41709;REN41710;REN41711;REN41712;REN41713;REN41714;REN41715;REN41716;REN41717;REN41718;REN41719;REN41720;REN41721;REN41722;REN41723;REN41724;REN41725;REN41726;REN41727;REN41728;REN41729;REN41730;REN41731;REN41732;REN41733;REN41734;REN41735;REN41736;REN41737;REN41738;REN41740;REN41741;REN41742;REN41743;REN41744;REN41745;REN41746;REN41747;REN41748;REN41749;REN41750;REN41751;REN41752;REN41753;REN41754;REN41755;REN41756;REN41757;REN41758;REN41759;REN41760;REN41761;REN41762;REN41763;REN41764;REN41765;REN41766;REN41767;REN41768;REN41769;REN41770;REN41771;REN41772;REN41773;REN41774;REN41775;REN41776;REN41777;REN41778;REN41779;REN41780;REN41781;REN41782;REN41783;REN41784;REN41785;REN41786;REN41787;REN41788;REN41789;REN41790;REN41791;REN41792;REN41793;REN41794;REN41795;REN41796;REN41797;REN41798;REN41799;REN41800;REN41801;REN41802;REN41803;REN41804;REN41805;REN41806;REN41807;REN41808;REN41809;REN41810;REN41811;REN41812;REN41813;REN41814;REN41815;REN41816;REN41817;REN41818;REN41819;REN41820;REN41821;REN41822;REN41823;REN41824;REN41825;REN41826;REN41827;REN41828;REN41829;REN41830;REN41831;REN41832;REN41833;REN41834;REN41835;REN41836;REN41837;REN41838;REN41839;REN41840;REN41841;REN41842;REN41843;REN41844;REN41845;REN41846;REN41847;REN41848;REN41849;REN41850;REN41851;REN41852;REN41853;REN41854;REN41855;REN41856;REN41857;REN41858;REN41859;REN41860;REN41861;REN41862;REN41863;REN41864;REN41865;REN41866;REN41867;REN41868;REN41869;REN41870;REN41871;REN41872;REN41873;REN41874;REN41875;REN41876;REN41877;REN41878;REN41879;REN41880;REN41881;REN41882;REN41883;REN41884;REN41885;REN41886;REN41887;REN41888;REN41889;REN41890;REN41891;REN41892;REN41893;REN41894;REN41895;REN41896;REN41897;REN41898;REN41899;REN41900;REN41901;REN41902;REN41903;REN41904;RH104022;RH11938;RH12335;RH27768;RH48197;RH69042;RH98413;SHGC-106004;SHGC-145503;SHGC-148589;SHGC-149889;SHGC-150868;SHGC-57520;SHGC-74966;SHGC-77768;T03442;WI-9343 IGLON1;OBCAM;OPCM IgLON family member 1;OTTHUMP00000224510;OTTHUMP00000235063;OTTHUMP00000235237;opiate binding-cell adhesion molecule;opioid binding protein/cell adhesion molecule-like preprotein;opioid-binding cell adhesion molecule;opioid-binding protein/cell adhesion molecule;opioid-binding protein/cell adhesion molecule-like APPROVED protein-coding ENSG00000183715 8143 07198 167000;600632 REVIEWED 737513 OPRM1 opioid receptor, mu 1 This gene encodes one of three opioid receptors. The mu opioid receptor is the principal target of endogenous opioid peptides and opioid analgesic agents such a s beta-endorphn and enkephalins. The NM_001008503.1:c.118A>G allele had been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 6 6 q24-q25 154402136 154609693 + 154331631 154568001 + 2316630;2316601;2316609;2316611;2316626;2316589;6480464;6484113 16176345;19298846;17553897;17360495;16901587;12710986 21156980;18687376;16046395;21895723;22375000;9689128;7905839;2159143;9242668;19609488;19605407;19598235;19581571;19545447;19523047;19341791;19336912;19336370;19303332;19282821;19240053;19219857;19167252;19164126;19103668;19086053;19077058;19074885;19058789;19053977;19032295;19018716;19016889;19008867;18803909;18795264;18719451;18709298;18690118;18690117;22457278;22815498;18650805;18579306;18574543;18574501;18540916;18537939;18523482;18518925;18518884;18499348;18482155;18455254;18433502;18419726;18411709;18403122;18384978;18349186;18341216;18319252;18250953;18250251;18213616;18195715;18182056;18181266;18028530;18004207;17990281;17979515;17978999;17898703;17877633;17855614;17768272;17680363;17635908;17592483;17578917;17503481;17497362;17416470;17395891;17374034;17224915;17207095;17201465;17157823;17156920;18676680;17054695;17005904;17000822;16960700;16914208;16879459;16871067;16843022;16842630;16808998;16794569;16682632;16679777;16580900;16580639;16542645;16476706;16435402;16402083;16400534;16387451;16315033;16140553;16133302;16123758;16122888;16103897;16053916;17126529;15988758;15933215;15902904;15893644;15772909;15731588;15704610;15608594;15558714;15542732;15525999;15504181;15494033;15489334;15448587;15448191;15322094;15252283;15194868;15167694;15037869;15007373;14745298;14744466;14623376;14532289;12960749;12898579;12815747;12813472;12810704;12734358;12657887;12648891;12627468;12589820;12519790;12477932;12413885;12357145;12210283;12142540;12141912;12123746;12068084;12031654;11933204;11840318;11751037;11457836;11424981;11338173;11278523;11140838;11092766;11076532;11069979;11060299;10874510;10690754;10682855;10656608;10393893;10336124;9572309;9399694;9312100;8393523;7957926;7891175;7488213;16846840;11445868;14530949;15086532;21810780;22515274;18577758;19438807;20074870;20525224;20734064;20842020;21029375;21037510;21039348;21039637;21049025;21070507;20560679;20668445;21742765;22744787;14573758;16892066;18240029;19119631;19170196;19272466;19416973;19447888;19501658;19519662;19520863;19528663;19542234;19573600;19604083;19625176;19666113;19683391;19692168;19706472;19764432;19764934;19775452;19783098;19791836;19845769;19860800;19874574;19891732;19956635;19959593;19959688;20003118;20107485;20110084;20112002;20171873;20194481;20230086;20237803;20379614;20384434;20411349;20424473;20468064;20478633;20486014;20528823;8208289;20828825;21150856;21160491;21347282;21219331;21158011;20980951;21127283;22406240;22516252;22882391;22717102;22992838;21361347;21454526;21684020;21576462;21220103;21849544;22138325;22211341;22343475;22433205;22796651;23557865;21919606;21912675;21215785;21864297;21957825;20479755;21953467;21906503;21277709;22309038;23632726;22230405;22798433;21326192;21049484;22217949;22875838;22914673;22925223;21837673;22101356;22071118;22198722;22682732;23144877;22143634;22752269;22909206;23223006;23503369;23566343;22784013;23273101;22209801;22436571;23302985;18338799;21483469;21569838;22102648;22240251;22781865;22752568;23254216;23260451;23402298;23222260;23314748 4988 B8K2Q5;E7EW71;Q9UN57 ABBA01025599;ABBA01025600;ABBA01025601;ABBA01025602;AF024515;AF024516;AF024517;AF153500;AF547997;AK313901;AL132774;AL136444;AL359850;AL445220;AMYH01016755;AY036622;AY036623;AY195733;AY225404;AY292290;AY292291;AY299483;AY309001;AY309005;AY309006;AY309007;AY309008;AY309009;AY364230;AY364890;AY521028;AY587764;BC074927;CH471051;DQ680044;EF666090;EU340241;EU340242;EU340243;EU360599;EU362990;FJ041290;FJ041291;FJ041292;FJ041293;FJ041294;GQ258059;HQ699462;L25119;L29301;NG_021208;NM_000914;NM_001008503;NM_001008504;NM_001008505;NM_001145279;NM_001145280;NM_001145281;NM_001145282;NM_001145283;NM_001145284;NM_001145285;NM_001145286;NM_001145287;U12569 AAA20580;AAA73958;AAB60354;AAC51877;AAC51878;AAD44318;AAH74927;AAK74189;AAK74190;AAO21305;AAP44409;AAP44410;AAP44727;AAP58255;AAQ12260;AAQ77385;AAQ77389;AAQ77390;AAQ77391;AAQ77392;AAQ77393;AAR11568;AAR12887;AAS00462;AAS83107;ABH03503;ABY61366;ABY66530;ACA49726;ACA49727;ACA49728;ACM90348;ACM90349;ACM90350;ACM90351;ACM90352;ACT35692;AET97615;BAG36624;EAW47704;EAW47705;NP_000905;NP_001008503;NP_001008504;NP_001008505;NP_001138751;NP_001138752;NP_001138753;NP_001138754;NP_001138755;NP_001138756;NP_001138757;NP_001138758;NP_001138759;P35372 Hs.2353 1655419;1657499;1662140;1709888;1726349;1768179;1797162;2121733 D6S1836;D6S2185;G62475;OPRM1;RH46629;SHGC-84785;WI-17899;WI-20576 KIAA0403;LMOR;M-OR-1;MOP;MOR;MOR1;OPRM M-OR-1;MOP;OTTHUMP00000017463;OTTHUMP00000017464;OTTHUMP00000225129;OTTHUMP00000225131;OTTHUMP00000225132;OTTHUMP00000225133;OTTHUMP00000225135;OTTHUMP00000225136;OTTHUMP00000225139;OTTHUMP00000225164;OTTHUMP00000225165;OTTHUMP00000225166;OTTHUMP00000225167;OTTHUMP00000225168;OTTHUMP00000225169;OTTHUMP00000225170;hMOP;mu opiate receptor;mu opioid receptor hMOR-1a;mu opioid receptor splice variant hMOR-1S;mu opioid receptor splice variant hMOR-1Y2;mu opioid receptor splice variant hMOR-1Y3;mu opioid receptor splice variant hMOR-1Z;mu opioid receptor splice variant hMOR-1b;mu-type opioid receptor APPROVED protein-coding ENSG00000112038 8156 02484 600018 REVIEWED 1349299 OPN4 opsin 4 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 q22 88404294 88416197 + 88414314 88426217 + 1580863;6480464 15674244;10632589;18804284;16961436;16687290;15716953;15674243;15489334;15203218;12853434;12477932;12163844;8889548;20554694;16754659;18577758;16385451;18240029;19470168;20180986;20810319;22881342;22074930;23055493 94233 C9JWU6;Q9UHM6 AB065730;ABBA01033680;AC067750;AF147788;AK310520;AMYH01002900;BC029291;BC113558;BC143688;BM672338;CD634966;CD634974;CH471142;DQ314804;NM_001030015;NM_033282 AAF24978;AAI13559;AAI43689;ABC40723;BAC05951;EAW80330;EAW80331;NP_001025186;NP_150598;Q9UHM6 Hs.283922 1764407;1766219;1796432;5491367 OPN4_1017;Opn4;SHGC-147992;SHGC-149581 MGC142118;MOP OTTHUMP00000020006;OTTHUMP00000020007;melanopsin;opsin 4 (melanopsin);opsin-4 APPROVED protein-coding ENSG00000122375 14449 05977 606665 VALIDATED 69478 OPRK1 opioid receptor, kappa 1 8 8 q11.2 54300829 54326747 - 54138276 54164194 - 1580863;6480464 22200678;8755601;16431922;7624359;19086053;19058789;19032295;18767415;18537939;18518925;18353307;18319328;18213616;17711303;17702750;17622222;17538007;17374034;17373729;17121830;16924269;16331961;16053916;15952771;15608558;15489334;15070904;14745298;14702039;12815037;12477932;12413885;12004055;11316510;11223000;11069979;10959409;10871647;9572309;8188308;8060324;7929306;7869844;11931835;14718611;15086532;22752269;21388957;18212250;18240029;19804796;19874574;20468064;18577758;20734064;21447649;21666232;23086943;22989890;23392455;22138325;22730276;22764240;22437504;18338799;21483469 4986 E5RHC9;E5RJI5;P41145 ABBA01041714;AC009646;AF498922;AK023198;AK310233;AK310407;AK313058;AMYH01018717;AY168006;AY466378;BC099912;CH471068;L36130;L37362;NM_000912;U11053;U16860;U17298 AAA20985;AAA56758;AAA63646;AAA63906;AAC50158;AAH99912;AAM21070;AAN87342;AAR36879;BAG35888;EAW86723;NP_000903;P41145 Hs.106795 1680298;1682059;2157542;2178596;2185279;2217688;5015619;5015961;5037552 A006N31;D11S3114;D15S1477;D8S2279;OPRK1_3342;RH66816;RH70574;RH92303;STS-R31938 KOR;OPRK K-OR-1;KOR-1;OTTHUMP00000226313;OTTHUMP00000226316;Opiate receptor, kappa-1;kappa opioid receptor;kappa-type opioid receptor protein-coding ENSG00000082556 8154 01309 165196 VALIDATED 737573 OPN5 opsin 5 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 6 6 6 p12.3 49306026 49350372 + 47857757 47902076 + 47749775 47794117 + 1302390;6480464 14623098 18354391;15774036;15489334;14702039;14623103;14574404;12679517;12477932;16344560;18240029;22043319 221391 D6RDV4;J3KPQ2;Q6U736 ABBA01050605;AK097448;AL161622;AL356421;AMYH01016333;AY255615;AY288419;AY377391;BC042544;BC126194;BC126198;BX647224;CH471081;DB056067;HC044661;NM_181744;NR_033806 AAI26195;AAI26199;AAO85127;AAP72128;AAR21109;ADR82953;CBH30660;EAX04324;NP_859528;Q6U736 Hs.213717 2109599 OPN5__6117 GPR136;NEUROPSIN;PGR12;TMEM13 G-protein coupled receptor 136;OTTHUMP00000217679;OTTHUMP00000217680;OTTHUMP00000217681;g protein-coupled receptor 136;neuropsin;opsin-5;transmembrane protein 13 APPROVED protein-coding 19992 12358 609042 REVIEWED 1344283 OR10A6 olfactory receptor, family 10, subfamily A, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 8064777 8065721 - 7905841 7906785 - 7949265 7950209 - 1580863;6480464 14983052 390093 Q8NH24;Q8NH74 AB065515;AB065588;ABBA01028684;AC044810;AMYH01003373;BK004403;CH471064;NM_001004461 AAI56509;BAC05763;BAC05817;DAA04801;EAW68642;NP_001004461;Q8NH74 Hs.528593 2219242 OR10A6__6122 OR11-96 OTTHUMP00000230687;olfactory receptor 10A6;olfactory receptor OR11-96 APPROVED protein-coding ENSG00000175393 15132 14882 PROVISIONAL 1346847 OR10A7 olfactory receptor, family 10, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55266664 55267614 + 53901076 53902026 + 55614809 55615759 + 1580863 14983052;12213199 121364 Q8NGE5 AB065864;ABBA01008382;AC090048;AF399626;AMYH01004492;BK004327;CH471054;CS248122;NM_001005280 AAK95111;BAC06082;CAJ56588;DAA04725;EAW96804;NP_001005280;Q8NGE5 Hs.554557 OR12-6 OTTHUMP00000242320;olfactory receptor 10A7;olfactory receptor OR12-6 APPROVED protein-coding ENSG00000179919 15329 14883 PROVISIONAL 1348991 OR10AA1P olfactory receptor, family 10, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131848560 131849493 - 157044716 157045849 - 158778192 158779125 - 6480464 81487 ABBA01016624;AL513205;AMYH01001443;NG_004278 APPROVED pseudo 14989 INFERRED 1350101 OR10AB1P olfactory receptor, family 10, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7865464 7866401 + 7706423 7707560 + 7749948 7750885 + 14983052;12213199 390091 Q8NGM4 AB065766;ABBA01028682;AC021427;AF399452;AMYH01003371;BK004574;NG_004153 APPROVED pseudo 14804 INFERRED 1353230 OR10AC1P olfactory receptor, family 10, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138045062 138046440 - 142917948 142919326 - 143208060 143209004 - 14983052 392133 Q8NH08 AACC02000107;AB065605;ABBA01034138;AC073264;AMYH01018008;CH236959;NG_004374 BAC05833;EAL23791;Q8NH08 1718353 RH122948 OR10AC1 APPROVED pseudo 14758 INFERRED 1342541 OR10A2 olfactory receptor, family 10, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7010077 7010988 + 6847562 6848473 + 6890986 6891897 + 6480464 18446592;16554811;14983052;12213199;11416212;12477932 341276 Q9H208 ABBA01028674;AC087280;AF321237;AF399490;AMYH01003368;BC136955;BK004293;BK004535;NM_001004460 AAG45207;AAI36956;DAA04691;NP_001004460;Q9H208 Hs.371762 1737597;2219238 D11S3183;OR10A2__6119 OR10A2P;OR11-82;OR11-86;OST363 OTTHUMP00000230847;hP4 olfactory receptor;olfactory receptor 10A2;olfactory receptor OR11-82 pseudogene;olfactory receptor OR11-86;olfactory receptor, family 10, subfamily A, member 2 pseudogene APPROVED protein-coding ENSG00000170790 8161 17663 PROVISIONAL 1347264 OR10AE1P olfactory receptor, family 10, subfamily AE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132620813 132621410 - 157817937 157818734 - 159551413 159552010 - 81486 ABBA01016619;AL606752;AMYH01001445;NG_004277 OR10AE2P APPROVED pseudo 14990 INFERRED 1350333 OR10A4 olfactory receptor, family 10, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7016949 7017943 + 6854455 6855402 + 6897856 6898850 + 6480464 14983052;12213199;11705801;11416212;12477932 283297 Q6IFR1;Q9H209 ABBA01028674;AC087280;AF209506;AF321237;AF399625;AMYH01003368;BC137024;BC137027;BK004201;CH471064;NM_207186 AAG45205;AAI37025;AAI37028;AAK95110;AAL32993;DAA04599;EAW68674;NP_997069;Q9H209 Hs.448685 2219240 OR10A4__6121 JCG5;OR10A4P OTTHUMP00000230848;hP2 olfactory receptor;olfactory receptor 10A4;olfactory receptor OR11-87;olfactory receptor, family 10, subfamily A, member 4 pseudogene;olfactory receptor-like protein JCG5 APPROVED protein-coding ENSG00000170782 15130 17664 VALIDATED 1352805 OR10AF1P olfactory receptor, family 10, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12 53055773 53056577 - 55472071 55473075 - 55715595 55716399 - 282769 ABBA01021460;AMYH01003646;AP003033;NG_004298 APPROVED pseudo 19606 INFERRED 1346669 OR10AE3P olfactory receptor, family 10, subfamily AE, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55692453 55692921 - 54326146 54326814 - 56039978 56040446 - 403223 ABBA01008383;AC009779;AMYH01004492;NG_004401 APPROVED pseudo 31235 INFERRED 1351222 OR10A3 olfactory receptor, family 10, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 8075635 8076579 - 7916699 7917643 - 7960123 7961067 - 6480464 1370859;16554811;14983052;12477932;12213199;23042114 26496 P58181;Q8NG90 AB065768;AB065940;ABBA01028684;AC044810;AF399634;AMYH01003373;BC137031;BC137032;BK004404;CH471064;NM_001003745;X64986 AAI37032;AAI37033;AAK95119;BAC05988;BAC06155;DAA04802;EAW68641;NP_001003745;P58181 Hs.381322 HSHTPCRX12;HTPCRX12 OTTHUMP00000230688;olfactory receptor 10A3;olfactory receptor OR11-97 APPROVED protein-coding ENSG00000170683 8162 14881 PROVISIONAL 1323425 OR10AH1P olfactory receptor, family 10, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5116071 5117069 + 5123146 5124344 + 5156721 5157719 + 9847074 402246 ABBA01039440;AC092028;AMYH01016993;NG_004397 APPROVED pseudo 19647 INFERRED 1352142 OR10AK1P olfactory receptor, family 10, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 53064868 53065282 - 55481167 55481781 - 55724691 55725105 - 403224 ABBA01021460;AMYH01003646;AP003033;NG_004402 APPROVED pseudo 31236 INFERRED 1312631 OPTC opticin Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008] 1 1 q32.1 201729894 201744700 + 203463271 203478077 + 1580863;6480464 10636917;17474147;17563717;17359525;16335952;15489334;15090426;12951322;12477932;12019215;11641609;10892843;10837509;19536175;19844586;20201926;22534113;23319000;22669977 26254 Q5T2G3;Q9UBM4 ABBA01027480;AF161702;AJ133790;AL391817;AMYH01001655;AY077681;BC074942;BC074943;BF724878;CH471067;NG_022886;NM_014359 AAD45900;AAH74942;AAH74943;AAL78286;CAB53459;EAW91482;NP_055174;Q9UBM4 Hs.632468 OPT OTTHUMP00000034332;oculoglycan;opticin APPROVED protein-coding ENSG00000188770 8158 05498 605127 REVIEWED 1342490 OR10B1P olfactory receptor, family 10, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15147453 15149690 - 15112716 15114950 - 15251943 15252849 - 6480464 9500546 401903 AB065575;ABBA01051097;AC003956;AC004794;AMYH01009543;NG_002201 AAC18916 OR10B2 APPROVED pseudo 8163 INFERRED 1352383 OR10D1P olfactory receptor, family 10, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121188269 121189201 + 123534238 123535370 + 124029129 124030061 + 6480464 1370859 26541 ABBA01031263;AMYH01004102;AP000818;NG_004126;X64981 Hs.512487 1338693;7187817 D11S1328 HTPCRX03;OR10D2P;OST074 APPROVED pseudo 8166 INFERRED 1354039 OR10D4P olfactory receptor, family 10, subfamily D, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121123287 121124583 - 123469353 123470649 - 123964143 123965439 - 6480464 390266 Q8NGN7 AB065753;ABBA01031264;AMYH01004102;AP000818;NG_003196 BAC05973;Q8NGN7 OR10D4;OR10D6P APPROVED pseudo 14770 INFERRED 1354061 OR10D3 olfactory receptor, family 10, subfamily D, member 3 (non-functional) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121215113 121216048 + 123561087 123562222 + 124055978 124056913 + 14983052;1370859 26497 Q8NH80 AB065509;ABBA01031262;AMYH01004102;AP000818;BK004425;NG_004125;X64983 BAC05757;DAA04823;Q8NH80 Hs.538726 HTPCRX09;OR10D3P APPROVED pseudo 8168 INFERRED 1344456 OR10D5P olfactory receptor, family 10, subfamily D, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121084685 121085618 + 123430610 123431743 + 123925500 123926433 + 79488 ABBA01031265;AC019108;AMYH01004102;AP001884;NG_002254 5118207 D11S3098 APPROVED pseudo 14838 INFERRED 1349001 OR10G1P olfactory receptor, family 10, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1933285 1934425 - 21139775 21140916 - 22069935 22071076 - 9110172;8188290 26540 ABBA01061261;AE000658;AMYH01005596;NG_001332 APPROVED pseudo 8169 REVIEWED 1346604 OR10G3 olfactory receptor, family 10, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1901276 1902217 - 21107774 21108715 - 22037934 22038875 - 1580863;6480464 14983052;12213199;9110172;8188290 26533 Q8NGC4 AB065893;ABBA01061260;AE000658;AF399566;AMYH01005596;BK004525;CH471078;NG_001332;NM_001005465 AAI56815;AAK95051;BAC06109;DAA04923;EAW66376;NP_001005465;Q8NGC4 Hs.554581 OR14-40 OTTHUMP00000239712;olfactory receptor 10G3;olfactory receptor OR14-40 APPROVED protein-coding ENSG00000169208 8171 14888 VALIDATED 1349061 OR10G4 olfactory receptor, family 10, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121045471 121046406 + 123391492 123392427 + 123886282 123887217 + 1580863;6480464 14983052;20379614 390264 Q8NGN3 AB065757;ABBA01031265;AC019108;AMYH01004102;AP001884;BK004502;CH471065;CS248296;NM_001004462 BAC05977;CAJ56671;DAA04900;EAW67565;NP_001004462;Q8NGN3 Hs.553760 2219246 OR10G4__6125 OR11-278 OTTHUMP00000231617;olfactory receptor 10G4;olfactory receptor OR11-278 APPROVED protein-coding ENSG00000254737 14809 14889 PROVISIONAL 1353755 OR10G5P olfactory receptor, family 10, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121039408 121040312 + 123385429 123386333 + 123880219 123881123 + 79515 ABBA01031265;AC019108;AMYH01004102;AP001884;NG_002261 APPROVED pseudo 14811 INFERRED 1354122 OR10G6 olfactory receptor, family 10, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121024066 121024824 - 123369983 123370941 - 123864873 123865631 - 6480464 14983052 79490 Q8NH81 AB065508;ABBA01031265;AC019108;AMYH01004102;AP001884;BK004312;NG_002255 BAC05756;DAA04710;Q8NH81 1756529;1857094 D11S4958;SHGC-143560 OR10G6P;OR10G6Q APPROVED pseudo 14836 INFERRED 1353648 OR10A5 olfactory receptor, family 10, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6986008 6986961 + 6823490 6824443 + 6866914 6867867 + 1580863;6480464 9787077;15489334;14983052;12477932;12213199;11705801;11416212 144124 Q6IFG6;Q9H207 ABBA01028673;AC087280;AF065874;AF321237;AF324499;AF399623;AF399624;AMYH01003368;BC093651;BC093653;BK004296;CH471064;NM_178168 AAC70019;AAG45206;AAH93651;AAH93653;AAK95108;AAK95109;AAL33005;DAA04694;EAW68675;NP_835462;Q9H207 Hs.447478 5493345 UniSTS:485789 JCG6;OR10A1;OR11-403 HP3;OTTHUMP00000230846;olfactory receptor 10A1;olfactory receptor 10A5;olfactory receptor 11-403;olfactory receptor OR11-85;olfactory receptor, family 10, subfamily A, member 1;olfactory receptor-like protein JCG6 APPROVED protein-coding ENSG00000166363 15131 16339 608493 PROVISIONAL 1344862 OR10G7 olfactory receptor, family 10, subfamily G, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121067962 121068897 - 123413983 123414918 - 123908773 123909708 - 1580863;6480464 14983052 390265 Q8NGN6 AB065754;ABBA01031265;AC019108;AMYH01004102;AP001884;BK004314;CH471065;CS248092;NM_001004463 BAC05974;CAJ56573;DAA04712;EAW67568;NP_001004463;Q8NGN6 Hs.553761 1764555;2219248 OR10G7__6126;SHGC-148143 OR11-283 OTTHUMP00000231620;olfactory receptor 10G7;olfactory receptor OR11-283 APPROVED protein-coding ENSG00000182634 14842 14890 PROVISIONAL 1349215 OR10G9 olfactory receptor, family 10, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121052909 121053844 + 123398930 123399865 + 123893720 123894655 + 1580863 14983052 219870 Q8NGN4 AB065756;ABBA01031265;AMYH01004102;AP001884;BK004760;CH471065;NM_001001953 BAC05976;EAW67566;NP_001001953;Q8NGN4 Hs.553636 1761657;1782464;2219246 OR10G4__6125;SHGC-145641;SHGC-155984 OR10G10P OTTHUMP00000231618;olfactory receptor 10G10;olfactory receptor 10G9;olfactory receptor OR11-272 APPROVED protein-coding ENSG00000236981 15129 17666 PROVISIONAL 1319909 OR10AD1 olfactory receptor, family 10, subfamily AD, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47393691 47394645 - 46882389 46883342 - 48596122 48597075 - 1580863 14983052;12213199;12477932 121275 Q8NGE0 AB065872;ABBA01031477;AC024257;AF399474;AMYH01004429;BC136757;BC136758;BK004354;CH471111;CS248150;NM_001004134 AAI36758;AAI36759;BAC06090;CAJ56602;DAA04752;EAW57978;NP_001004134;Q8NGE0 Hs.446790 2219244 OR10AD1__6124 OR10AD1P;OR12-1 OTTHUMP00000237620;olfactory receptor 10AD1;olfactory receptor OR12-1;olfactory receptor, family 10, subfamily AD, member 1 pseudogene APPROVED protein-coding ENSG00000172640 14819 11812;14884 PROVISIONAL 1350024 OR10AG1 olfactory receptor, family 10, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53075208 53076113 - 55491610 55492515 - 55735034 55735939 - 1580863;6480464 14983052;12477932 282770 Q8NH19 AB065594;ABBA01021460;AMYH01003646;AP003033;BC136890;BC136891;BK004519;CH471076;CS248588;NM_001005491 AAI36891;AAI36892;BAC05822;CAJ56810;DAA04917;EAW73692;NP_001005491;Q8NH19 Hs.554525 OR11-160 OTTHUMP00000234211;olfactory receptor 10AG1;olfactory receptor OR11-160 APPROVED protein-coding ENSG00000174970 19607 14885 PROVISIONAL 1353336 OR10C1 olfactory receptor, family 10, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 31013835 31014773 + 29515772 29516710 + 29407716 29408754 + 6480464 14983052;14574404;12637542;12213199;12477932;19833159 442194 A2BF34;Q6IFQ5;Q96KK4 ABBA01038032;AF399627;AJ459860;AL035542;AL049739;AL645927;AL662869;AMYH01016195;BC136996;BC136997;BK004207;BX004810;BX248400;BX927133;CH471081;CR388393;CR759768;CR848056;NM_013941 AAI36997;AAI36998;AAK95112;CAB44507;DAA04605;EAX03194;NP_039229;Q96KK4 Hs.631997 OR10C1P;OR10C2;OR6-31;hs6M1-17 OTTHUMP00000029294;olfactory receptor 10C1;olfactory receptor 10C2;olfactory receptor OR6-31;olfactory receptor, family 10, subfamily C, member 2;seven transmembrane helix receptor APPROVED protein-coding 8165 14886 VALIDATED 1343948 OR10G2 olfactory receptor, family 10, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1965415 1966347 - 21171906 21172838 - 22102066 22102998 - 1580863;6480464 14983052;9110172;8188290;12477932 26534 Q8NGC3 AB065894;ABBA01061264;AE000658;AMYH01005596;BC137371;BC137382;BK004670;CH471078;NG_001332;NM_001005466 AAI37372;AAI37383;BAC06110;EAW66374;NP_001005466;Q8NGC3 Hs.554580 OR14-41 OTTHUMP00000239713;olfactory receptor 10G2;olfactory receptor OR14-41 pseudogene APPROVED protein-coding ENSG00000255582 8170 14887 VALIDATED 736202 OPTN optineurin This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 10 10 p13 13182088 13220282 + 13142082 13180276 + 1600995;6480502;6480464;6480507;6480510;6480509;6480504;6480506;6480512;6480513;6480505;6480499;7240710 11834836;21825243;20388642;14627677;16020311;21613650;20428114;20436471;19096531;21360076;22318854 15837803;9488477;19340308;19172505;19145250;18552856;18385781;18307994;18195223;17854769;17702576;17663725;17615537;17563717;17293779;17148662;17122126;17081983;16988596;16972651;16885925;16885188;16688110;16681888;16440206;16374045;16358725;16205626;16189514;16148883;16091361;16043855;15851979;15557444;15498064;15489334;15370540;15326130;15231748;15226658;15164054;14755458;14740994;14702039;14597044;12939304;12920093;12912697;12811537;12646749;12477932;12379221;11495908;11137014;10807909;10756201;10366446;9700202;9497264;9110174;8619474;21148290;21220178;21617041;20668460;20671613;18683701;20801516;21074290;21074902;20634958;20161783;15867431;16385451;18029348;19615732;19710941;19754948;20085643;20174559;20379614;20839008;20604900;21623375;22708870;21408173;21217154;22365832;22796589;22863883;19820708;21644038;19609363;21550138;21764520;21139048;21284751;21852022;21890473;21906983;21963094;22040667;15840729;21903422;21988832;23000965;23275563;22422156;23282279;23732909;23805866;22101367;20301623;21059646;21862579;18685082;19285159;22675546;22402017;23178947;22854040;22892313;21802176;22364875;22690120 10133 H7C1H4;Q7LDL9 ABBA01034632;ABBA01034633;ABBA01034634;AF049614;AF061034;AF070533;AF283527;AF420371;AF420372;AF420373;AK055403;AK122746;AK303715;AK316171;AL355355;AMYH01002040;AMYH01002041;BC013876;BC032762;BI552635;CH471072;NG_012876;NM_001008211;NM_001008212;NM_001008213;NM_021980 AAC16046;AAC16047;AAC26850;AAG00497;AAH13876;AAH32762;AAL76327;AAL76328;AAL76329;ABM84577;ABM86746;BAG51512;BAG64696;BAH14542;EAW86301;EAW86302;EAW86303;EAW86304;EAW86305;EAW86306;EAW86307;EAW86308;EAW86309;NP_001008212;NP_001008213;NP_001008214;NP_068815;Q96CV9 Hs.332706 1653021;1695316;1736010;1775362;1781954;2140651;2158488;2172845 172;A006T03;D10S1275E;D10S1295E;RH11306;RH70007;SHGC-133063;SHGC-63482 ALS12;FIP2;GLC1E;HIP7;HYPL;NRP;TFIIIA-INTP E3-14.7K-interacting protein;FIP-2;HIP-7;Huntingtin interacting protein L;OTTHUMP00000019124;OTTHUMP00000019125;OTTHUMP00000019126;OTTHUMP00000019127;OTTHUMP00000019128;OTTHUMP00000019129;huntingtin yeast partner L;huntingtin-interacting protein 7;huntingtin-interacting protein L;nemo-related protein;optic neuropathy-inducing protein;optineurin;transcription factor IIIA-interacting protein;transcrption factor IIIA-interacting protein;tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains APPROVED protein-coding ENSG00000123240 17142 03891 137760;602432;606657;613435 REVIEWED 1344881 OR10H4 olfactory receptor, family 10, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15959220 15960170 + 15920818 15921768 + 16059818 16060768 + 1580863 14983052;12213199 126541 Q8NGA5 AB065921;ABBA01051126;AC011517;AF399586;AMYH01009558;BK004270;CH471106;CS248352;NM_001004465 AAK95071;BAC06136;CAJ56696;DAA04668;EAW84516;NP_001004465;Q8NGA5 Hs.553579 2219254 OR10H4__6130 OR19-28 olfactory receptor 10H4;olfactory receptor OR19-28 APPROVED protein-coding ENSG00000176231 15388 14891 VALIDATED 1347161 OR10J2P olfactory receptor, family 10, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132319076 132320033 - 157515358 157516515 - 159248833 159249790 - 391117 ABBA01016620;AL513323;AMYH01001444;NG_004364 APPROVED pseudo 14991 INFERRED 1347047 OR10J3 olfactory receptor, family 10, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132353699 132354688 - 157550084 157551073 - 159283460 159284449 - 6480464 19372141;17903293;16710414;14983052;12213199;19423540;20406964;20438785;20237162;22075330;22939635 441911 Q5JRS4 AB065445;ABBA01016619;AF399453;AL513323;AMYH01001444;BK004532;NM_001004467 NP_001004467;Q5JRS4 Hs.553833 OR1-25;OR10J3P OTTHUMP00000035341;olfactory receptor 10J3;olfactory receptor OR1-25 pseudogene;olfactory receptor, family 10, subfamily J, member 3 pseudogene APPROVED protein-coding ENSG00000196266 14992 17672 PROVISIONAL 1343836 OR10J4 olfactory receptor, family 10, subfamily J, member 4 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132472235 132473167 + 157668518 157669649 + 159401995 159402926 + 17973576;16710414;12213199 391121 P0C629 ABBA01016619;AL663023;AMYH01001444;NG_004367 P0C629 OR10J4P;OST717 APPROVED pseudo 15408 INFERRED 1346605 OR10G8 olfactory receptor, family 10, subfamily G, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121059519 121060454 + 123405540 123406475 + 123900330 123901265 + 1580863 14983052;12477932 219869 Q8NGN5 AB065755;ABBA01031265;AC019108;AMYH01004102;AP001884;BC136917;BC136920;BK004510;BK004571;CH471065;CS248300;NM_001004464 AAI36918;AAI36921;BAC05975;CAJ56673;DAA04908;EAW67567;NP_001004464;Q8NGN5 Hs.553635 OR11-274;OR11-282 OTTHUMP00000231619;olfactory receptor 10G8;olfactory receptor OR11-274 pseudogene;olfactory receptor OR11-282 APPROVED protein-coding ENSG00000234560 14845 17665 PROVISIONAL 1348573 OR10J6P olfactory receptor, family 10, subfamily J, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132637484 132638410 + 157834612 157835738 + 159568089 159569015 + 12213199 401973 Q8NGY7 AB065629;ABBA01016619;AL445528;AMYH01001445;NG_004393 BAC05855;Q8NGY7 2178795;2181383 RH44880;RH45348 OR10J6 APPROVED pseudo 14994 INFERRED 1349895 OR10J7P olfactory receptor, family 10, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132391080 132392052 + 157587365 157588537 + 159320841 159321813 + 391119 ABBA01016619;AL513323;AMYH01001444;NG_004365 APPROVED pseudo 19637 INFERRED 1349799 OR10J8P olfactory receptor, family 10, subfamily J, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132406189 132407114 + 157602475 157603600 + 159335951 159336876 + 343409 ABBA01016619;AL513323;AMYH01001444;NG_004308 APPROVED pseudo 19638 INFERRED 1353311 OR10H1 olfactory receptor, family 10, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15815749 15816868 - 15778817 15779936 - 15917817 15918936 - 1580863;6480464 15057824;14983052;12477932;12213199 26539 Q9Y4A9 ABBA01051124;AC004510;AC114267;AF399584;AMYH01009556;BC130360;BC132969;BK004210;CH471106;NM_013940 AAC08454;AAI30361;AAI32970;AAK95069;ADR83358;DAA04608;EAW84505;NP_039228;Q9Y4A9 Hs.533925 2219250;5492485;5493793 OR10H1__6127;UniSTS:481252;UniSTS:494841 olfactory receptor 10H1;olfactory receptor OR19-27 APPROVED protein-coding ENSG00000186723 8172 17667 VALIDATED 1349334 OR10J9P olfactory receptor, family 10, subfamily J, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132445440 132446426 - 157641737 157642923 - 159375212 159376198 - 391120 ABBA01016619;AL513323;AMYH01001444;NG_004366 APPROVED pseudo 19639 INFERRED 1349498 OR10K2 olfactory receptor, family 10, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131460762 131461700 - 156656342 156657280 - 158389718 158390656 - 1580863 16710414;14983052 391107 Q6IF99;Q8NGX4 AB065642;ABBA01016628;AL121986;AMYH01001443;BK004363;CH471121;CS248206;NM_001004476 BAC05868;CAJ56628;DAA04761;EAW52826;NP_001004476;Q6IF99 Hs.626815 2219260 OR10K2__6135 OR1-4 OTTHUMP00000021118;olfactory receptor 10K2;olfactory receptor OR1-4 APPROVED protein-coding ENSG00000180708 14826 14894 PROVISIONAL 1353700 OR10N1P olfactory receptor, family 10, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121134907 121135829 - 123480869 123481991 - 123975759 123976681 - 390267 ABBA01031264;AMYH01004102;AP000818;NG_004339 APPROVED pseudo 14689 INFERRED 1348904 OR10H5 olfactory receptor, family 10, subfamily H, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15802771 15803718 + 15765859 15766806 + 15904859 15905806 + 1580863;6480464 14983052;12213199;12477932 284433 Q8NGA6 AB065920;ABBA01051123;AC011537;AF399583;AMYH01009555;BC136869;BK004271;BK004272;CH471106;CS248344;NM_001004466 AAI36870;AAK95068;BAC06135;CAJ56864;DAA04669;DAA04670;EAW84504;NP_001004466;Q8NGA6 Hs.553676 2219256 OR10H5__6131 OR19-25;OR19-26 olfactory receptor 10H5;olfactory receptor OR19-25;olfactory receptor OR19-26 APPROVED protein-coding ENSG00000172519 15389 17670 PROVISIONAL 1350293 OR10H2 olfactory receptor, family 10, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15736742 15737770 + 15699834 15700862 + 15838834 15839862 + 1580863;6480464 15489334;15057824;14983052;12477932;12213199 26538 O60403 ABBA01051121;AC004597;AC104533;AF399585;AMYH01009555;BC069085;BC069457;BC112178;BC113647;BK004211;CH471106;NM_013939 AAC14388;AAH69085;AAH69457;AAI12179;AAI13648;AAK95070;ADR82894;DAA04609;EAW84502;NP_039227;O60403 Hs.247694 5492671;5493505 UniSTS:481975;UniSTS:486947 MGC138383 olfactory receptor 10H2;olfactory receptor OR19-23 APPROVED protein-coding ENSG00000171942 8173 17668 VALIDATED 1343046 OR10Q2P olfactory receptor, family 10, subfamily Q, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55417723 55418665 - 57815777 57816919 - 58059301 58060243 - 23349640 81345 ABBA01021488;AMYH01003658;AP000435;NG_004249 APPROVED pseudo 15135 INFERRED 1349106 OR10R1P olfactory receptor, family 10, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131555619 131556759 + 156751199 156752339 + 158484575 158485715 + 14983052 79513 ABBA01016626;AL365440;AMYH01001443;BK004528;NG_002259 OR1-10 APPROVED pseudo 14813 INFERRED 1349251 OR10J5 olfactory receptor, family 10, subfamily J, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132574270 132575199 - 157771492 157772421 - 159504868 159505797 - 1580863 17903294;14983052;12908129;12477932;22939635;23251661 127385 Q86UG6;Q8NHC4 AB065443;ABBA01016619;AL606752;AMYH01001444;AY284357;AY284358;AY284359;AY284360;AY284361;AY284362;AY284363;AY284364;AY284365;AY284366;AY284367;AY284368;AY284369;AY284370;AY284371;AY284372;AY284373;AY284374;AY284375;AY284376;AY284377;AY284378;AY284379;AY284380;AY284381;AY284382;AY284383;AY284384;AY284385;AY284386;AY284387;AY284388;BC137025;BC137026;BK004290;CH471121;CS248146;NM_001004469 AAI37026;AAI37027;AAP32607;AAP32608;AAP32609;AAP32610;AAP32611;AAP32612;AAP32613;AAP32614;AAP32615;AAP32616;AAP32617;AAP32618;AAP32619;AAP32620;AAP32621;AAP32622;AAP32623;AAP32624;AAP32625;AAP32626;AAP32627;AAP32628;AAP32629;AAP32630;AAP32631;AAP32632;AAP32633;AAP32634;AAP32635;AAP32636;AAP32637;AAP32638;BAC05709;CAJ56600;DAA04688;EAW52783;NP_001004469;Q8NHC4 Hs.553587 OR1-28 OTTHUMP00000024354;olfactory receptor 10J5;olfactory receptor OR1-28 APPROVED protein-coding ENSG00000184155 14993 14892 PROVISIONAL 1348144 OR10R3P olfactory receptor, family 10, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131532054 131532992 + 156727533 156728671 + 158461010 158461948 + 1580863 14983052;12213199 391110 Q8NGX7 AB065639;ABBA01016627;AF399451;AK122667;AL365440;AMYH01001443;BK004673;NG_004362 BAC05865 Hs.640254 OR1-9 APPROVED pseudo 14829 INFERRED 1354093 OR10R2 olfactory receptor, family 10, subfamily R, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131520712 131521719 + 156716292 156717299 + 158449668 158450675 + 6480464 16710414;14983052;12213199 343406 Q8NGX6 AB065640;ABBA01016627;AF399582;AL365440;AMYH01001443;BK004191;CH471121;NM_001004472 AAK95067;BAC05866;DAA04589;EAW52824;NP_001004472;Q8NGX6 Hs.451913 OR1-8;OR10R2Q OTTHUMP00000021112;olfactory receptor 10R2;olfactory receptor OR1-8 APPROVED protein-coding ENSG00000198965 14820 17674 PROVISIONAL 1353132 OR10T1P olfactory receptor, family 10, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131485902 131486848 - 156681482 156682428 - 158414858 158415804 - 79514 ABBA01016628;AL365440;AMYH01001443;NG_002260 APPROVED pseudo 14812 INFERRED 1348272 OR10H3 olfactory receptor, family 10, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 15750107 15751057 + 15713203 15714153 + 15852203 15853153 + 1580863 15489334;15057824;14983052;12665801;12477932 26532 O60404 ABBA01051121;AC004597;AMYH01009555;BC106707;BC113844;BK004212;CH471106;NM_013938 AAC14389;AAI06708;AAI13845;DAA04610;EAW84503;NP_039226;O60404 Hs.553524 2219252;5492801 OR10H3__6129;UniSTS:482689 MGC119147;MGC119149 olfactory receptor 10H3;olfactory receptor OR19-24 APPROVED protein-coding ENSG00000171936 8174 17669 PROVISIONAL 1353981 OR10J1 olfactory receptor, family 10, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132479758 132480846 + 157676173 157677135 + 159409512 159410600 + 1580863;6480464 1370859;17903294;17903293;15489334;14983052;12477932;12213199;20237162;22939635;23251661 26476 P30954 ABBA01016619;AF399587;AL663023;AMYH01001444;BC069150;BC112290;BC112292;BK004527;CH471121;NM_012351;X64995 AAH69150;AAI12291;AAK95072;CAA46128;DAA04925;EAW52784;NP_036483;P30954 Hs.532661 2159910;2219258;5492569 OR10J1__6132;STS-X64995;UniSTS:481707 HGMP07J;HSHGMP07J;MGC138495;MGC138497 OTTHUMP00000024353;olfactory receptor 10J1;olfactory receptor OR1-26;olfactory receptor-like protein HGMP07J APPROVED protein-coding ENSG00000196184 8175 17671 VALIDATED 1350461 OR10V1 olfactory receptor, family 10, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56843132 56844061 - 59236965 59237894 - 59480389 59481318 - 1580863;6480464 14983052;12213199 390201 Q8NGI7 AB065807;ABBA01021505;AF399593;AMYH01003662;AP000640;BK004323;CH471076;NM_001005324 AAK95078;BAC06026;DAA04721;EAW73852;NP_001005324;Q8NGI7 Hs.589001 OR11-256 OTTHUMP00000235888;olfactory receptor 10V1;olfactory receptor OR11-256 APPROVED protein-coding ENSG00000172289 15136 17676 PROVISIONAL 1350638 OR10U1P olfactory receptor, family 10, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55239497 55240452 - 53873812 53874967 - 55587644 55588599 - 390318 ABBA01008382;AC090048;AMYH01004492;NG_004344 APPROVED pseudo 15332 INFERRED 1605030 OR10V2P olfactory receptor, family 10, subfamily V, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56879028 56879791 + 59272760 59273723 + 59516285 59517054 + 10737800 81343 ABBA01021506;AMYH01003662;AP000640;AW847973;NR_045005 Hs.741974 APPROVED pseudo ENSG00000255538 15137 VALIDATED 1344207 OR10V3P olfactory receptor, family 10, subfamily V, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56871540 56872264 + 59265274 59266198 + 59508799 59509523 + 81342 ABBA01021506;AMYH01003662;AP000640;NG_004247 APPROVED pseudo 15138 INFERRED 1348477 OR10V7P olfactory receptor, family 10, subfamily V, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q21.1 22435529 22435828 - 41644731 41645230 - 42575081 42575380 - 403225 ABBA01018013;AL355839;AMYH01005692;NG_005817 APPROVED pseudo 31237 INFERRED 1351615 OR10K1 olfactory receptor, family 10, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131506396 131507337 + 156701976 156702917 + 158435352 158436293 + 1580863;6480464 14983052;12477932;20677014 391109 Q8NGX5 AB065641;ABBA01016628;AL365440;AMYH01001443;BC137323;BC137324;BK004190;CH471121;CS248374;NM_001004473 AAI37324;AAI37325;BAC05867;CAJ56707;DAA04588;EAW52825;NP_001004473;Q8NGX5 Hs.690410 1781720;2108853 OR10K1__6134.2;SHGC-155253 OR1-6 OTTHUMP00000018923;olfactory receptor 10K1;olfactory receptor OR1-6 APPROVED protein-coding ENSG00000173285 14693 14893 PROVISIONAL 1605031 OR10Y1P olfactory receptor, family 10, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56858734 56859707 + 59252468 59253641 + 59495993 59496966 + 81340 ABBA01021505;AMYH01003662;AP000640;NG_004245 APPROVED pseudo 15140 INFERRED 1350212 OR10T2 olfactory receptor, family 10, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131439356 131440300 - 156634936 156635880 - 158368312 158369256 - 1580863 16710414;14983052;20677014 128360 Q8NGX3 AB065643;ABBA01016628;AL121986;AMYH01001443;BK004364;CH471121;CS248080;NM_001004475 AAI56268;AAI57048;BAC05869;CAJ56567;DAA04762;EAW52827;NP_001004475;Q8NGX3 Hs.553588 OR1-3 OTTHUMP00000018924;olfactory receptor 10T2;olfactory receptor OR1-3 APPROVED protein-coding ENSG00000186306 14816 14896 PROVISIONAL 1346412 OR10P1 olfactory receptor, family 10, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55683155 55684096 + 54316943 54317884 + 56030676 56031617 + 6480464 16541075;14983052;12213199;12477932 121130 Q8NGE3;Q8NH36 AB065867;ABBA01008383;AC009779;AF399489;AMYH01004492;BC136914;BK004259;CH471054;NM_206899 AAI36915;BAC06085;DAA04657;EAW96817;NP_996782;Q8NGE3 Hs.554551 OR10P1P;OR10P2P;OR10P3P;OR12-7;OST701 OTTHUMP00000242528;olfactory receptor 10P1;olfactory receptor 10P2;olfactory receptor 10P3;olfactory receptor OR12-7;olfactory receptor, family 10, subfamily P, member 1 pseudogene;olfactory receptor, family 10, subfamily P, member 2 pseudogene;olfactory receptor, family 10, subfamily P, member 3 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000175398 15378 14895 PROVISIONAL 1343821 OR11G1P olfactory receptor, family 11, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 508955 509905 + 19717127 19718277 + 20647286 20648294 + 390438 ABBA01061221;AL163152;AMYH01005582;NG_004352 1788430 fc18g03.x1 APPROVED pseudo 15345 INFERRED 1342523 OR10X1 olfactory receptor, family 10, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131619765 131620745 - 156815333 156816313 - 158548709 158549689 - 1580863 16710414;14983052;12213199 128367 Q8NGY0 AB065636;ABBA01016625;AF399455;AL160283;AMYH01001443;BK004194;BK004529;CH471121;NM_001004477 BAC05862;DAA04592;EAW52821;NP_001004477;Q8NGY0 Hs.553589 2219262 OR10X1__6141 OR1-13;OR1-14;OR10X1P OTTHUMP00000021114;olfactory receptor 10X1;olfactory receptor OR1-13 pseudogene;olfactory receptor OR1-14;olfactory receptor, family 10, subfamily X, member 1 pseudogene APPROVED protein-coding ENSG00000186400 14995 14897 PROVISIONAL 1354303 OR11G2 olfactory receptor, family 11, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 527059 528097 + 19735335 19736372 + 20665495 20666532 + 14983052;12213199 390439 Q8NGC1 AB065897;ABBA01061221;AF399610;AL356019;AMYH01005582;BK004453;NM_001005503 AAI48505;AAK95095;BAC06113;DAA04851;NP_001005503;Q8NGC1 Hs.554582 OR14-34 OTTHUMP00000236541;olfactory receptor 11G2;olfactory receptor OR14-34 APPROVED protein-coding ENSG00000196832 15346 14900 PROVISIONAL 1350384 OR10Z1 olfactory receptor, family 10, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131647280 131648221 + 156842853 156843794 + 158576229 158577170 + 1580863 16710414;14983052;20677014;23222517 128368 Q8NGY1 AB065635;ABBA01016625;AL353894;AMYH01001443;BK004195;CH471121;NM_001004478 BAC05861;DAA04593;EAW52820;NP_001004478;Q8NGY1 Hs.553590 2219264 OR10Z1__6142 OR1-15 OTTHUMP00000021117;olfactory receptor 10Z1;olfactory receptor OR1-15 APPROVED protein-coding ENSG00000198967 14996 14898 PROVISIONAL 1349951 OR11H2 olfactory receptor, family 11, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 q11.2 20181063 20182491 - 14983052 79334 Q8NH07 AB065607;AL139799;AL512310;AMYH01005578;BK004489;NM_001197287 BAC05834;DAA04887;NP_001184216;Q8NH07 Hs.554706 C14orf15;OR11H2P;OR11H8P olfactory receptor 11H2;olfactory receptor OR14-1;olfactory receptor, family 11, subfamily H, member 2 pseudogene;olfactory receptor, family 11, subfamily H, member 8 pseudogene;seven transmembrane helix receptor APPROVED protein-coding 14716 INFERRED 1346649 OR11H1 olfactory receptor, family 11, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 22 22 q11.2 14828824 14829804 - 16448824 16449804 - 6480464 14983052;12213199 81061 Q8NG94 AB065933;ABBA01126678;AF399611;AMYH01012391;AP000534;BK004492;CS248078;NM_001005239 AAK95096;BAC06148;CAJ56566;DAA04890;NP_001005239;Q8NG94 Hs.554706 OR22-1 OTTHUMP00000028511;olfactory receptor 11H1;olfactory receptor OR22-1;seven transmembrane helix receptor APPROVED protein-coding 15404 14901 PROVISIONAL 1343903 OR11H3P olfactory receptor, family 11, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19798765 19799911 - 22297500 22298446 - 81113 ABBA01120841;AC134980;AMYH01006363;NG_004166 APPROVED pseudo 15367 INFERRED 1352906 OR10Q1 olfactory receptor, family 10, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55353777 55354813 - 57751964 57752923 - 57995354 57996390 - 1580863 14983052;12477932 219960 Q8NGQ4 AB065735;ABBA01021486;AMYH01003658;AP004247;BC140731;BK004298;CH471076;CS248100;NM_001004471 AAI40732;BAC05956;CAJ56577;DAA04696;EAW73801;NP_001004471;Q8NGQ4 Hs.553646 OR11-233 OTTHUMP00000235990;olfactory receptor 10Q1;olfactory receptor OR11-233 APPROVED protein-coding ENSG00000180475 15134 17673 VALIDATED 1352626 OR11H5P olfactory receptor, family 11, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 539017 539915 + 19747196 19748294 + 20677457 20678355 + 390440 ABBA01061221;AL356019;AMYH01005582;NG_004353 APPROVED pseudo 15348 INFERRED 1344961 OR11H6 olfactory receptor, family 11, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 553381 554373 + 19761709 19762701 + 20691869 20692861 + 1580863 14983052 122748 Q8NGC7 AB065889;ABBA01061222;AL356019;AMYH01005582;BK004454;CH471078;CS248288;NM_001004480 BAC06106;CAJ56667;DAA04852;EAW66485;NP_001004480;Q8NGC7 Hs.553575 2219270 OR11H6__5955 OTTHUMP00000244556;olfactory receptor 11H6;olfactory receptor OR14-35 APPROVED protein-coding ENSG00000176219 15349 14903 PROVISIONAL 1346960 OR11H7 olfactory receptor, family 11, subfamily H, member 7 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 559075 560016 + 19767301 19768442 + 20697562 20698503 + 17973576;14983052;12730696;12508121;12213199 390441 Q8NGC8 ABBA01061222;AL356019;AMYH01005582;NG_004354 Q8NGC8 1749415 SHGC-111153 OR11H7P APPROVED pseudo 15350 INFERRED 1342728 OR11H8P olfactory receptor, family 11, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14 14 q11.2 19250735 19252115 - 20180895 20182275 - 326319 AB065607;AL512310;NG_002568 C14orf15 pseudo 19434 1604779 OR11I1P olfactory receptor, family 11, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 109643724 109644717 + 111198244 111199237 + 111396721 111397714 + 6480464 12644552;12213199 81479 AB065444;ABBA01068394;AL354713;AMYH01000945;NG_003221 OR11I2P APPROVED pseudo 14997 INFERRED 1347910 OR11J1P olfactory receptor, family 11, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19769501 19770660 - 22268236 22269195 - 81111 AC134980;NG_004165 APPROVED pseudo 15369 INFERRED 1605617 OR11J2P olfactory receptor, family 11, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19430549 19431694 + 21165991 21166936 + 81110 AC037471;AMYH01006256;NG_004164 1726281 G62441 APPROVED pseudo 15370 INFERRED 1344426 OR11J5P olfactory receptor, family 11, subfamily J, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19439138 19440297 - 21174579 21175538 - 403226 ABBA01165342;AC037471;AMYH01006257;NG_004403 APPROVED pseudo 31238 INFERRED 2974687 OR11J6P olfactory receptor, family 11, subfamily J, member 6 pseudogene 15 q11.2 22185837 22186733 - 100288148 AC183089;NG_022100 pseudo 38588 INFERRED 2974688 OR11J7P olfactory receptor, family 11, subfamily J, member 7 pseudogene 15 q11.2 22177243 22178149 + 100288112 AC183089;AMYH01006359;NG_022120 1726281 G62441 pseudo 38589 INFERRED 1343705 OR11K1P olfactory receptor, family 11, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19820118 19821246 - 22318853 22319781 - 81109 Q8NGB5 AB065906;ABBA01150127;AC134980;AMYH01006363;AX646649;NG_004163 BAC06121;CAD69451 hypothetical protein LOC100288919;uncharacterized protein LOC100288919 APPROVED pseudo 15371 INFERRED 1345215 OR11K2P olfactory receptor, family 11, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 66966 67913 - 19271245 19272392 - 20201504 20202451 - 401742 ABBA01061213;AL512310;AMYH01005581;NG_004392 APPROVED pseudo 19635 INFERRED 1349590 OR10S1 olfactory receptor, family 10, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121006598 121007593 - 123352613 123353608 - 123847403 123848398 - 14983052;12213199;12477932 219873 Q8NGN2 AB065758;ABBA01031265;AC019108;AF399565;AMYH01004102;AP001884;BC137037;BC137038;BK004509;CH471065;NM_001004474 AAI37038;AAI37039;AAK95050;BAC05978;DAA04907;EAW67563;NP_001004474;Q8NGN2 Hs.553637 OR11-279 OTTHUMP00000231616;olfactory receptor 10S1;olfactory receptor OR11-279 APPROVED protein-coding ENSG00000196248 14807 17675 PROVISIONAL 1606176 OR11M1P olfactory receptor, family 11, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47817631 47818603 + 47307790 47308962 + 49021624 49022596 + 121270 ABBA01031482;AC079951;AMYH01004433;NG_004284 APPROVED pseudo 15333 INFERRED 1604896 OR11H13P olfactory receptor, family 11, subfamily H, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 q11.2 18876353 18877482 - 19806435 19807415 - 16572171;15489334;14983052;14702039 440159 Q8IXE0 AB065941;AL589743;AMYH01005517;BK004794;NG_004865 BAC45263 ORNP-NP1 APPROVED pseudo 29997 INFERRED 1349424 OR11N1P olfactory receptor, family 11, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130844743 130845722 - 130285889 130287068 - 130458308 130459287 - 392540 ABBA01042122;AL590806;AMYH01022982;NG_004381 APPROVED pseudo 19582 INFERRED 1351492 OR11P1P olfactory receptor, family 11, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11 513651 514024 - 19721824 19722397 - 20652084 20652457 - 282795 ABBA01061221;AL163152;AMYH01005582;NG_004302 APPROVED pseudo 19636 INFERRED 1353527 OR11Q1P olfactory receptor, family 11, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.1 130724504 130725452 + 130165650 130166798 + 130338070 130339018 + 403227 ABBA01042113;AL603758;AMYH01022982;NG_004404 APPROVED pseudo 31239 INFERRED 1354423 OR12D1P olfactory receptor, family 12, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30990987 30992118 + 29492921 29494052 + 29384942 29386073 + 26530 AB065471;ABBA01038032;AL035542;AL645927;AL662869;AMYH01016195;BX004810;BX248400;BX927133;CR388393;CR759768;NG_002196 BAC05728 OR12D1;hs6M1-19 APPROVED pseudo 8177 INFERRED 1349715 OR10W1 olfactory receptor, family 10, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55392678 55394146 - 57790840 57792308 - 58034264 58035732 - 14983052;12975309;12477932 81341 Q8NGF6 AB065850;ABBA01021486;AMYH01003658;AP000435;AY358251;BC132848;BC132850;BK004490;CH471076;NM_207374 AAI32849;AAI32851;AAQ88618;ADR82922;BAC06068;DAA04888;EAW73802;NP_997257;Q8NGF6 Hs.531507 1707968;2218856 SHGC-84648;UNQ6469__5019 OR10W1P;OR10W1Q;OR11-236;UNQ6469 OTTHUMP00000235988;olfactory receptor 10W1;olfactory receptor OR11-236;olfactory receptor, family 10, subfamily W, member 1 pseudogene APPROVED protein-coding ENSG00000172772 15139 18269 VALIDATED 1346770 OR11A1 olfactory receptor, family 11, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30999324 31001552 - 29501260 29503488 - 29393281 29395509 - 1580863;6480464 14983052;14574404;12637542;12477932;19851445;20379614 26531 Q9GZK7 ABBA01038032;AC004174;AJ302614;AJ302615;AJ302616;AJ302617;AJ302618;AJ302619;AJ302620;AJ302621;AJ302622;AJ302623;AJ459857;AL035542;AL645927;AL662869;AMYH01016195;BC131608;BK004208;BX004810;BX248400;BX927133;CH471081;CR388393;CR759768;CR848056;NM_013937 AAI31609;CAB44508;CAC20534;CAC20535;CAC20536;CAC20537;CAC20538;CAC20539;CAC20540;CAC20541;CAC20542;CAC20543;CAD31040;DAA04606;EAX03192;EAX03193;NP_039225;Q9GZK7 Hs.676010 2219266;5492989 OR11A1__6143;UniSTS:483556 OR11A2;dJ994E9.6;hs6M1-18 OTTHUMP00000029333;OTTHUMP00000108301;olfactory receptor 11A1;olfactory receptor 11A2;olfactory receptor OR6-30;olfactory receptor, family 11, subfamily A, member 2 APPROVED protein-coding ENSG00000204694 8176 14899 PROVISIONAL 1604898 OR11H12 olfactory receptor, family 11, subfamily H, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 q11.2 18447594 18448574 + 19377594 19378574 + 12477932 440153 B2RN74 AMYH01005461;BC136730;BC136731;CR383656;NM_001013354 AAI36731;AAI36732;B2RN74;NP_001013372 Hs.534880 OTTHUMP00000243455;olfactory receptor 11H12 APPROVED protein-coding ENSG00000257115 30738 18633 PROVISIONAL 1345740 OR11H4 olfactory receptor, family 11, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 572152 573126 + 19780791 19781765 + 20710951 20711925 + 1580863;6480464 14983052;12477932 390442 Q8NGC9 AB065887;ABBA01061222;AL356019;AMYH01005582;BC137054;BC137055;BK004455;CH471078;CS248290;NM_001004479 AAI37055;AAI37056;BAC06104;CAJ56668;DAA04853;EAW66484;NP_001004479;Q8NGC9 Hs.553767 2219268 OR11H4__5953 OR14-36 OTTHUMP00000244558;olfactory receptor 11H4;olfactory receptor OR14-36 APPROVED protein-coding ENSG00000176198 15347 14902 PROVISIONAL 1345206 OR13C1P olfactory receptor, family 13, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77924343 77925296 - 106458765 106459918 - 107419044 107419997 - 12906860;12213199 392377 ABBA01042834;AF399464;AL359846;AMYH01021595;NG_002246 OR37M APPROVED pseudo 14699 INFERRED 1344868 OR13C4 olfactory receptor, family 13, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77794154 77795110 - 106328355 106329311 - 107288534 107289490 - 1580863;6480464 15164053;14983052;12906860;12213199;1370859 138804 Q8NGS5 AB065714;ABBA01042834;AF399602;AL450426;AMYH01021595;BK004411;CH471105;CS248516;NM_001001919;X64991 AAI48383;AAI53008;AAK95087;BAC05935;CAJ56775;DAA04809;EAW58981;NP_001001919;Q8NGS5 Hs.553601 2219274;2219276 OR13C3__5957;OR13C4__5958 HSHTPCRX17;HTPCRX17;OR2K1;OR37F;OR9-7 OTTHUMP00000021824;olfactory receptor 13C4;olfactory receptor OR9-7;olfactory receptor, family 2, subfamily K, member 1 APPROVED protein-coding ENSG00000148136 14722 11411 PROVISIONAL 1342706 OR11L1 olfactory receptor, family 11, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221296358 221297326 - 246070853 246071821 - 248004230 248005198 - 1580863;6480464 14983052;12477932 391189 Q6IF01;Q8NGX0 AB065646;ABBA01031793;AC099571;AMYH01001917;BC140753;BK004461;CH471148;NM_001001959 AAI40754;BAC05872;DAA04859;EAW77204;NP_001001959;Q8NGX0 Hs.553781 OTTHUMP00000038047;olfactory receptor 11L1;olfactory receptor OR1-50 APPROVED protein-coding ENSG00000197591 14998 17677 PROVISIONAL 1351391 OR13C6P olfactory receptor, family 13, subfamily C, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35924887 35925833 - 35981236 35982382 - 35991336 35992282 - 12906860 392311 ABBA01050437;AL138834;AMYH01019347;NG_004378 OR37B APPROVED pseudo 15101 INFERRED 1351941 OR13C7P olfactory receptor, family 13, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35936461 35937416 - 35992809 35993964 - 36002909 36003864 - 12906860 81377 ABBA01050437;AL138834;AMYH01019348;NG_002408 OR13C7;OR37C;OST706 APPROVED pseudo 15102 INFERRED 1343666 OR13C8 olfactory receptor, family 13, subfamily C, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77837068 77838030 + 106371270 106372232 + 107331449 107332411 + 1580863;6480464 15164053;14983052;12906860;12213199 138802 Q8NGS7 AB065711;ABBA01042834;AF399599;AL450426;AMYH01021595;BK004607;CH471105;CS248392;NM_001004483 AAI40248;AAI41626;AAK95084;BAC05933;CAJ56716;EAW58983;NP_001004483;Q8NGS7 Hs.553599 2107455 OR13C8__7105 OR37H;OR9-10 OTTHUMP00000021826;olfactory receptor 13C8;olfactory receptor OR9-10 pseudogene APPROVED protein-coding ENSG00000186943 15103 14908 PROVISIONAL 1353189 OR13C9 olfactory receptor, family 13, subfamily C, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77885142 77886098 - 106419350 106420306 - 107379529 107380485 - 1580863 14983052;12906860 286362 Q8NGT0;Q8NGV4 AB065672;AB065708;ABBA01042834;AL359846;AMYH01021595;BK004250;CH471105;CS248224;NM_001001956 AAI41487;AAI48771;BAC05897;BAC05930;CAJ56637;DAA04648;EAW58988;NP_001001956;Q8NGT0 Hs.553682 2106555 OR13C9__5961 OR37L;OR9-13 OTTHUMP00000021832;olfactory receptor 13C9;olfactory receptor OR9-13 APPROVED protein-coding ENSG00000136839 15104 14909 PROVISIONAL 1603609 OR13A1 olfactory receptor, family 13, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41801331 41814286 - 45118108 45131062 - 45798102 45811056 - 6480464 15164054;14983052;12477932 79290 Q8NGR1 AB065728;ABBA01050025;AC011879;AK131555;AL512324;AMYH01002298;BC104853;BC104855;BC143622;BK004287;CH471160;CS248138;NM_001004297 AAI04854;AAI04856;AAI43623;BAC05949;BAD18689;CAJ56596;DAA04685;EAW86641;NP_001004297;Q8NGR1 Hs.532435 FLJ16797 OTTHUMP00000019501;OTTHUMP00000217078;olfactory receptor 13A1;olfactory receptor OR10-3;seven transmembrane helix receptor APPROVED protein-coding ENSG00000256574 14772 14904 VALIDATED 1353917 OR13D2P olfactory receptor, family 13, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77857915 77858848 + 106392019 106393152 + 107352299 107353232 + 392375 ABBA01042834;AL450426;AMYH01021595;NG_004380 2190497 CFOR10D04 APPROVED pseudo 15105 INFERRED 1351506 OR13D3P olfactory receptor, family 13, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77989925 77990858 + 106524337 106525470 + 107484617 107485550 + 402374 ABBA01042831;AL359846;AMYH01021596;NG_004400 APPROVED pseudo 15106 INFERRED 1345751 OR13E1P olfactory receptor, family 13, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35792557 35793512 - 35848922 35850077 - 35859022 35859977 - 392308 ABBA01064982;AL133410;AMYH01019347;NG_004377 OR13E2;OST741 APPROVED pseudo 15107 INFERRED 1345485 OR13C2 olfactory receptor, family 13, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77872572 77873528 - 106406773 106407729 - 107366952 107367908 - 1580863 15164053;14983052;12906860;12477932 392376 Q8NGS9 AB065709;ABBA01042834;AL359846;AMYH01021595;BC136824;BC136826;BK004408;CH471105;CS248386;NM_001004481 AAI36825;AAI36827;BAC05931;CAJ56713;DAA04806;EAW58987;NP_001004481;Q8NGS9 Hs.553789 2219272 OR13C2__5956 OR37K OTTHUMP00000021831;olfactory receptor 13C2;olfactory receptor OR9-12 APPROVED protein-coding ENSG00000257019 14701 14905 PROVISIONAL 1354005 OR13C3 olfactory receptor, family 13, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77803672 77804715 - 106337872 106338915 - 107298051 107299094 - 15164053;14983052;12906860;12477932 138803 Q8NGS6 AB065713;ABBA01042834;AL450426;AMYH01021595;BC136949;BC136952;BK004410;CH471105;NM_001001961 AAI36950;AAI36953;BAC05934;DAA04808;EAW58982;NP_001001961;Q8NGS6 Hs.553600 2219274 OR13C3__5957 OR37G;OR9-8 OTTHUMP00000021823;olfactory receptor 13C3;olfactory receptor OR9-8 APPROVED protein-coding ENSG00000204246 14704 14906 PROVISIONAL 1347240 OR13C5 olfactory receptor, family 13, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77866354 77867310 - 106400559 106401515 - 107360738 107361694 - 1580863;6480464 15164053;14983052;12906860;12477932 138799 Q8NGS8 AB065710;ABBA01042834;AL450426;AMYH01021595;BC136842;BC136843;BK004409;CH471105;CS248390;NM_001004482 AAI36843;AAI36844;BAC05932;CAJ56715;DAA04807;EAW58986;NP_001004482;Q8NGS8 Hs.553598 OR9-11 OTTHUMP00000021825;olfactory receptor 13C5;olfactory receptor OR9-11 APPROVED protein-coding ENSG00000255800 15100 14907 PROVISIONAL 1346011 OR13I1P olfactory receptor, family 13, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77897649 77898913 + 106431756 106433220 + 107392036 107393300 + 79538 ABBA01042834;AL359846;AMYH01021595;NG_004626 OR13I2P APPROVED pseudo 14732 INFERRED 1352207 OR12D3 olfactory receptor, family 12, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30947396 30949264 - 29449179 29451047 - 29341200 29343068 - 1580863;6480464 15489334;14983052;14574404;12637542;12477932;19851445;20205591;20466734;23393555 81797 D2XT27;Q9UGF7 ABBA01038032;AJ459858;AL096770;AL662781;AL732432;AMYH01016195;BC069082;BC069154;BC103892;BC106898;BK004439;BX005133;BX927232;CH471081;CR388393;CR759808;CS248370;NM_030959 AAH69082;AAH69154;AAI03893;CAB65796;CAD31041;CAJ56705;DAA04837;EAX03190;NP_112221;Q9UGF7 Hs.272280 5493061;5493951 UniSTS:480499;UniSTS:484052 MGC119267;MGC125888;hs6M1-27 OTTHUMP00000029057;olfactory receptor 12D3;olfactory receptor OR6-27 APPROVED protein-coding ENSG00000112462 13963 17679 PROVISIONAL 1345064 OR12D2 olfactory receptor, family 12, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30970469 30971501 + 29472456 29473379 + 29364416 29365448 + 1580863;6480464 15489334;14983052;14574404;12637542;12477932;11282967;19833159;19851445;21946350 26529 A2BDZ2;B0UY34;P58182 ABBA01038032;AC004171;AJ459861;AL035542;AL645927;AL662869;AMYH01016195;BC069123;BC101742;BC101746;BK004523;BX005133;BX927232;CH471081;CR388393;CR759808;NM_013936 AAH69123;AAI01743;AAI01747;CAB44510;DAA04921;EAX03191;NP_039224;P58182 Hs.247862 5492481;5493277 UniSTS:481228;UniSTS:485585 DJ994E9.8;HS6M1-20;MGC126791;MGC126795 OTTHUMP00000029055;olfactory receptor 12D2;olfactory receptor OR6-28 APPROVED protein-coding ENSG00000168787 8178 17678 REVIEWED 1354025 OR13K1P olfactory receptor, family 13, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131083149 131084232 + 130524284 130525567 + 130696704 130697787 + 402424 ABBA01042139;AL355366;AMYH01022982;NG_004632 1652976;1691552;1691566;1701908;1847926 AF020145;AL032546;AL032611;DXS7839;DXS9761 APPROVED pseudo 14721 INFERRED 1353038 OR13Z1P olfactory receptor, family 13, subfamily Z, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 122092387 122093279 - 145357256 145358348 + 146890733 146891625 + 403228 ABBA01004400;AC242425;AL590667;AMYH01001225;NG_004405 1696654 SHGC-82962 APPROVED pseudo 31240 INFERRED 1351866 OR13Z2P olfactory receptor, family 13, subfamily Z, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 122066145 122066700 - 145383835 145384590 + 146917312 146917867 + 403229 ABBA01004400;AC242628;AL590667;AMYH01001225;NG_004406 APPROVED pseudo 31241 INFERRED 1352260 OR13Z3P olfactory receptor, family 13, subfamily Z, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q21.1 122029630 122030020 - 145420511 145421101 + 146953988 146954378 + 403230 ABBA01004400;AC242628;AL590667;AMYH01001225;NG_005818 APPROVED pseudo 31242 INFERRED 1352394 OR14A16 olfactory receptor, family 14, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221270682 221271611 - 246044725 246045654 - 247978102 247979031 - 6480464 14983052 284532 Q8NHC5 AB065441;ABBA01031791;AC099571;AMYH01001917;BK004366;CH471148;CS248188;NM_001001966 AAI40461;AAI48710;BAC05708;CAJ56620;DAA04764;EAW77203;NP_001001966;Q8NHC5 Hs.626620 OR5AT1 OTTHUMP00000038052;olfactory receptor 14A16;olfactory receptor 5AT1;olfactory receptor OR1-45;olfactory receptor, family 5, subfamily AT, member 1 APPROVED protein-coding ENSG00000196772 15022 15033 PROVISIONAL 1353060 OR14C36 olfactory receptor, family 14, subfamily C, member 36 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221796592 221797530 + 246578700 246579638 + 248512077 248513015 + 1580863;6480464 16710414;14983052 127066 Q8NHC7 AB065439;ABBA01031799;AL450303;AMYH01001926;BK004466;CH471148;CS248414;NM_001001918 BAC05706;CAJ56727;DAA04864;EAW77223;NP_001001918;Q8NHC7 Hs.553583 1655126 G19135 OR5BF1 OTTHUMP00000038280;olfactory receptor 14C36;olfactory receptor 5BF1;olfactory receptor OR1-59;olfactory receptor, family 5, subfamily BF, member 1 APPROVED protein-coding ENSG00000177174 15026 17754 PROVISIONAL 1342601 OR14A2 olfactory receptor, family 14, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221178955 221180299 - 245952824 245954168 - 247886201 247887545 - 12213199 388761 Q96R54 AB065620;ABBA01031790;AC026038;AC118470;AF399589;AMYH01001917;NG_002409 Q96R54 OR5AX1;OR5AX1P APPROVED pseudo 15024 INFERRED 1350154 OR13D1 olfactory receptor, family 13, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77962003 77963043 + 106496524 106497564 + 107456703 107457743 + 6480464 14983052;12477932 286365 Q8NGV5 AB065671;ABBA01042832;AL359846;AMYH01021595;BC140916;BK004251;CH471105;NM_001004484 AAI40917;BAC05896;DAA04649;EAW58989;NP_001004484;Q8NGV5 Hs.553683 2219278 OR13D1__5962 OR9-15 OTTHUMP00000021827;olfactory receptor 13D1;olfactory receptor OR9-15 APPROVED protein-coding ENSG00000179055 14695 14910 PROVISIONAL 1342816 OR13F1 olfactory receptor, family 13, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.1 77772162 77773121 + 106306365 106307324 + 107266544 107267503 + 1580863;6480464 15164053;14983052;12477932 138805 Q8NGS4 AB065715;ABBA01042834;AL450426;AMYH01021595;BC140739;BK004412;CH471105;CS248394;NM_001004485 AAI40740;BAC05936;CAJ56717;DAA04810;EAW58980;NP_001004485;Q8NGS4 Hs.553602 2219280 OR13F1__5963 OR9-6 OTTHUMP00000021822;olfactory receptor 13F1;olfactory receptor OR9-6 APPROVED protein-coding ENSG00000186881 14723 14911 PROVISIONAL 1345029 OR14K1 olfactory receptor, family 14, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221194442 221195386 + 245968540 245969484 + 247901917 247902861 + 1580863;6480464 16939646;14983052;12213199;11337468 343170 Q8NGZ2 AB065624;ABBA01031791;AC118470;AF399590;AMYH01001917;BK004377;CH471148;CS248218;NG_007559 AAK95075;BAC05850;CAJ56634;DAA04775;EAW77201 1710794;2110621 OR5AY1__5904;SHGC-84075 OR1-39;OR1.5.9;OR5AY1 APPROVED pseudo 15025 17752 INFERRED 1348185 OR14L1P olfactory receptor, family 14, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221081781 221082659 + 245849606 245850484 + 247782983 247783861 + 16710414;14983052 127617 Q6IEZ2;Q8NHC6 AB065440;ABBA01031788;AL606804;AMYH01001914;BK004470;BK004700;NG_004286 BAC05707;DAA04868;Q8NHC6 OR1-35;OR1-36;OR5AV1;OR5AV1P;RP11-978I15.6 APPROVED pseudo 15023 INFERRED 1349302 OR13G1 olfactory receptor, family 13, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221134225 221135148 - 245902043 245902966 - 247835420 247836343 - 1580863 19166692;19056482;18599554;17975119;16710414;16175505;14983052;12477932;19023099;19709766 441933 Q8NGZ3 AB065623;ABBA01031788;AC026038;AL390860;AMYH01001914;BC136736;BC136738;BK004376;CH471148;NM_001005487 AAI36737;AAI36739;BAC05849;DAA04774;EAW77198;NP_001005487;Q8NGZ3 Hs.553834 OR1-37 OTTHUMP00000038061;olfactory receptor 13G1;olfactory receptor OR1-37 APPROVED protein-coding ENSG00000197437 14999 17680 611677 PROVISIONAL 1344200 OR13H1 olfactory receptor, family 13, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131064480 131065406 + 130505729 130506655 + 130678048 130678974 + 1580863 15772651;14983052;12908129;12213199;9268701;1840504;1370859;12477932 347468 Q8NG92 AB065938;ABBA01042136;ABBA01042137;AF399633;AL049734;AMYH01022982;AY284421;BC137050;BK004524;CH471107;NM_001004486 AAI37051;AAK95118;BAC06153;DAA04922;EAX11790;NP_001004486;Q8NG92 Hs.553711;Hs.714693 2219282 OR13H1__5964 ORX1 OTTHUMP00000024032;olfactory receptor 13H1;olfactory receptor ORX-1;olfactory receptor ORX1 APPROVED protein-coding ENSG00000171054 14755 18600 PROVISIONAL 1344765 OR1AB1P olfactory receptor, family 1, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 16062215 16062953 + 16023687 16024625 + 16162788 16163526 + 81090 ABBA01051127;AC008894;AMYH01009558;NG_004627 2146885;2171244 D13S1673;G26528 APPROVED pseudo 15390 INFERRED 1350079 OR1AC1P olfactory receptor, family 1, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3294496 3294742 - 3227412 3227858 - 3280761 3281007 - 403231 ABBA01054737;AC087498;AMYH01008030;NG_005819 APPROVED pseudo 31243 INFERRED 1342799 OR1B1 olfactory receptor, family 1, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96039176 96040132 - 124430679 124431635 - 125390858 125391814 - 1580863 18328065;15164053;14983052 347169 Q8NGR6 AB065723;ABBA01043717;AL162254;AMYH01021694;BK004229;CH471090;NM_001004450 BAC05944;DAA04627;EAW87539;NP_001004450;Q8NGR6 Hs.553710 OR9-26;OR9-B OTTHUMP00000022061;olfactory receptor 1B1;olfactory receptor 9-B;olfactory receptor OR9-26 APPROVED protein-coding ENSG00000171484 8181 14913 PROVISIONAL 1351262 OR1AA1P olfactory receptor, family 1, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130944711 130945651 + 130385856 130386996 + 130558276 130559216 + 79312 ABBA01042129;AL049734;AMYH01022982;NG_002238 APPROVED pseudo 14750 INFERRED 1347486 OR13J1 olfactory receptor, family 13, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35803004 35803942 - 35859460 35860398 - 35869460 35870398 - 1580863;6480464 15164053;14983052;12213199;12477932 392309 Q8NGT2 AB065705;ABBA01064982;AF399603;AL133410;AMYH01019347;AY726589;BC136715;BC136716;BK004442;CH471071;CS248084;NM_001004487 AAI36716;AAI36717;AAK95088;BAC05928;CAJ56569;DAA04840;EAW58323;NP_001004487;Q8NGT2 Hs.527480 OR9-2 OTTHUMP00000021360;olfactory receptor 13J1;olfactory receptor OR9-2 APPROVED protein-coding ENSG00000168828 15108 14912 PROVISIONAL 1344146 OR1D3P olfactory receptor, family 1, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3182832 3183474 + 3115856 3116498 + 3169106 3169748 + 12213199;10673334;9787077;8004088 8384 AB065571;AB065606;ABBA01054735;AC090282;AF065866;AF065868;AF087919;AF399371;AMYH01008028;NG_002298;U04679;U04685 OR11-13;OR11-22;OR17-23;OR1D6P;OR1D7P APPROVED pseudo 8184 INFERRED 1349157 OR14I1 olfactory receptor, family 14, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222141262 222142197 - 246911293 246912228 - 248844670 248845605 - 6480464 12477932;19322201 401994 A6ND48 ABBA01023059;AC098483;AMYH01001950;BC137188;BC137189;CH471257;NM_001004734 A6ND48;AAI37189;AAI37190;EAW57530;NP_001004734 Hs.449973 1848038;2219360 AL009992;OR5BU1__5908 OR5BU1;OR5BU1P OTTHUMP00000038175;olfactory receptor 14I1;olfactory receptor 5BU1;olfactory receptor, family 5, subfamily BU, member 1 pseudogene APPROVED protein-coding ENSG00000189181 19575 17755 PROVISIONAL 1344262 OR14J1 olfactory receptor, family 14, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30880644 30881609 + 29382446 29383411 + 29274467 29275432 + 1580863;6480464 14983052;14574404;12477932;19851445 442191 Q9UGF5 ABBA01038032;AL096770;AL662781;AL662857;AMYH01016195;BC136905;BK004441;BX005432;BX927232;CH471081;CR753509;CR759808;CR936918;NM_030946 AAI36906;CAB65799;DAA04839;EAX03186;NP_112208;Q9UGF5 Hs.632004 OR5U1;OR6-25;bA150A6.4;hs6M1-28 OTTHUMP00000029265;olfactory receptor 14J1;olfactory receptor 5U1;olfactory receptor OR6-25;olfactory receptor, family 5, subfamily U, member 1 APPROVED protein-coding ENSG00000204695 13971 15053 PROVISIONAL 1347689 OR1E1 olfactory receptor, family 1, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3314483 3315427 - 3247510 3248454 - 3300760 3301704 - 1580863;6480464 1370859;14983052;12213199;10706615;10673334;9500546;8004088;20379614 8387 P30953;Q9NZP3 ABBA01054737;AC087498;AF052041;AF087916;AF095725;AF179761;AF399550;AMYH01008030;BK004237;BK004353;CH471108;NM_003553;U04642;U04682;U78308;U86222;U86274;X64994 AAA17447;AAA18346;AAC39613;AAC39629;AAD00276;AAD17495;AAF03261;AAF37309;AAF40350;AAI66630;AAK95035;CAA46127;DAA04635;DAA04751;EAW90515;NP_003544;P30953 Hs.278485 1688018;1732584;2107457;2145000;5493943 D17S1152;OR1E1__7107;RH70864;RH75979;UniSTS:480485 HGM071;OR13-66;OR17-2;OR17-32;OR1E5;OR1E6;OR1E8P;OR1E9P;OST547 OR5-85;OTTHUMP00000115802;olfactory receptor 13-66;olfactory receptor 17-2/17-32;olfactory receptor 1E1;olfactory receptor 1E5;olfactory receptor 1E6;olfactory receptor 5-85;olfactory receptor OR17-18;olfactory receptor OR17-4;olfactory receptor, family 1, subfamily E, member 5;olfactory receptor, family 1, subfamily E, member 6;olfactory receptor, family 1, subfamily E, member 8 pseudogene;olfactory receptor, family 1, subfamily E, member 9 pseudogene;olfactory receptor-like protein HGMP07I APPROVED protein-coding 8189 17685 VALIDATED 1351186 OR1A1 olfactory receptor, family 1, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3136984 3137913 + 3065665 3066594 + 3118915 3119844 + 1580863;6480464 17601748;14983052;12477932;12213199;10673334 8383 Q9P1Q5 ABBA01054733;AC090282;AF087918;AF399555;AMYH01008027;BC069169;BC128248;BC141934;BC141935;BK004241;CH471108;NM_014565 AAF37311;AAH69169;AAI28249;AAI41935;AAI41936;AAK95040;DAA04639;EAW90520;NP_055380;Q9P1Q5 Hs.532688 2219284;5494029 OR1A1__5966;UniSTS:480759 OR17-7 OTTHUMP00000115797;olfactory receptor 17-7;olfactory receptor 1A1;olfactory receptor OR17-11 APPROVED protein-coding ENSG00000172146 8179 17681 VALIDATED 1351004 OR1E3 olfactory receptor, family 1, subfamily E, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3037943 3038890 + 2966471 2967418 + 3019721 3020668 + 1580863 12379593;10673334;8004088 8389 Q8WZA6;Q9UM77 ABBA01054733;AC097370;AF087929;AMYH01008027;NG_002151;U04690;U53583 AAC99555;Q8WZA6 OR17-210;OR1E3P APPROVED pseudo 8191 INFERRED 1350511 OR1C1 olfactory receptor, family 1, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221213287 221214231 - 245987387 245988331 - 247920764 247921708 - 633349;1580863;6480464 9119360 16939646;16710414;14983052;12213199;12477932 26188 Q15619 AB065625;ABBA01031791;AF399560;AL450999;AMYH01001917;BC140914;BK004365;CH471148;CS248186;NM_012353;X89674 AAI40915;AAK95045;BAC05851;CAA61821;CAJ56619;DAA04763;EAW77202;NP_036485;Q15619 Hs.381306 HSTPCR27;OR1-42;OR1.5.10;ORL211;TPCR27 OTTHUMP00000038051;olfactory receptor 1C1;olfactory receptor OR1-42;olfactory receptor TPCR27 APPROVED protein-coding 8182 14914 VALIDATED 1606624 OR1F12 olfactory receptor, family 1, subfamily F, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29646955 29648368 + 28148873 28150286 + 28041026 28042002 + 14983052 442179 Q6IFI9;Q8NHA8 AB065468;ABBA01038015;AL121944;AMYH01016189;BK004273;NG_004691 BAC05727;DAA04671;Q8NHA8 OR1F12P;OR1F12Q;OR6-12;hs6M1-35P APPROVED pseudo 13964 INFERRED 1353348 OR1F2P olfactory receptor, family 1, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3471235 3472219 + 3205563 3206547 + 3265562 3266546 + 1580863;6480464 14983052;12213199;9653642;1370859 26184 Q96R84 ABBA01026734;AF091512;AF399558;AJ003145;AJ003147;AMYH01007089;BK004665;NR_002169;X64987 Q96R84 Hs.651203 5493531 UniSTS:487062 OLFMF2;OR16-3;OR1F11;OR1F2;OR1F3P;hg91 APPROVED pseudo ENSG00000203581 8196 PROVISIONAL 1346947 OR1D4 olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2010] 17 17 17 p13.3 2984518 2985107 - 3090566 3091758 + 3143970 3144559 + 1580863 8004088;14983052;12477932;12213199;10673334 653166 P47884;Q6IFM2 ABBA01054735;AC090282;AF087922;AF399534;AMYH01008027;BC118668;BC122528;BK004240;NR_033795;U04681 AAA18345;AAF37312;AAI72308;AAK95019;DAA04638;P47884 Hs.653087 2109603;5493103 OR1D5__5969;UniSTS:484278 MGC125396;MGC199013;OR17-30 olfactory receptor 17-30;olfactory receptor 1D4;olfactory receptor OR17-1 APPROVED pseudo ENSG00000255095 8185 VALIDATED 1349478 OR1H1P olfactory receptor, family 1, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96018468 96019401 + 124409864 124410997 + 125370144 125371077 + 26742 ABBA01043717;AL162254;AMYH01021694;NG_004138 1711190 SHGC-85342 OR1H1;OST26 APPROVED pseudo 8206 INFERRED 1344373 OR1D5 olfactory receptor, family 1, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 p13.3 2912713 2913705 - 2965963 2966901 - 1580863 1315913;14983052;12477932;12213199;10673334 8386 A0AUK4;P58170 ABBA01054732;AC097370;AF087923;AF399533;AMYH01008026;BC106876;BK004245;CS248334;NM_014566;U53930 AAD10841;AAF37313;AAI06877;AAI52940;AAK95018;CAJ56690;DAA04643;NP_055381;P58170 Hs.553508 2109603;5492587;5493103 OR1D5__5969;UniSTS:481731;UniSTS:484278 C17orf2;OR17-2;OR17-30;OR17-31 olfactory receptor 17-31;olfactory receptor 1D5;olfactory receptor OR17-2 APPROVED protein-coding ENSG00000262628 8186 17684 VALIDATED 1348312 OR1A2 olfactory receptor, family 1, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3118886 3119815 + 3047563 3048492 + 3100813 3101742 + 1580863;6480464 17601748;15489334;14983052;12477932;12213199;10673334 26189 Q9Y585 ABBA01054733;AC090282;AF155225;AF399556;AMYH01008027;BC069092;BC106733;BC106734;BK004242;CH471108;NM_012352 AAD39545;AAH69092;AAI06734;AAI06735;AAK95041;DAA04640;EAW90521;NP_036484;Q9Y585 Hs.532660 5492377 UniSTS:480888 MGC119930;MGC119931;OR17-6 OTTHUMP00000115798;olfactory receptor 17-6;olfactory receptor 1A2;olfactory receptor OR17-10 APPROVED protein-coding ENSG00000172150 8180 17682 PROVISIONAL 1353920 OR1D2 olfactory receptor, family 1, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 p13.3 2942102 2943040 - 2995352 2996290 - 68281;1580863;6480464 1840504 8004088;8097991;1370859;15489334;14983052;12663925;12477932;12213199;10673334;8665947;1315913;21454689;16820410;23472165 4991 P34982 ABBA01054733;AC097370;AF087917;AF399535;AMYH01008027;BC069552;BC106735;BC106736;BK004244;CH471108;NM_002548;U04678;U53583;X65857 AAA18343;AAC99554;AAF37310;AAH69552;AAI06736;AAI06737;AAK95020;CAA46687;DAA04642;EAW90524;NP_002539;P34982 Hs.532771 5492483 UniSTS:481219 MGC119942;MGC119943;OLFR1;OR17-4 OTTHUMP00000115755;olfactory receptor 17-4;olfactory receptor 1D2;olfactory receptor OR17-6;olfactory receptor-like protein HGMP07E APPROVED protein-coding ENSG00000184166 8183 01255 164342 VALIDATED 1347114 OR1J2 olfactory receptor, family 1, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 95921398 95922339 + 124312902 124313843 + 125273081 125274022 + 6480464 10706615;14983052;14702039;12908129;12213199;1370859 26740 Q8NGS2 AB065717;ABBA01043714;AF179760;AF179767;AF399552;AK123016;AL359636;AMYH01021694;AY283941;AY283942;AY283943;AY283944;AY283945;AY283946;AY283947;AY283948;AY283949;AY283950;AY283951;AY283952;AY283953;AY283954;AY283955;AY283956;AY283957;AY283958;AY283959;AY283960;AY283961;AY283962;AY283963;AY283964;AY283965;AY283966;AY283967;AY283968;AY283969;AY283970;AY283971;AY283972;BK004448;CH471090;CS248548;NM_054107;X64989 AAF40349;AAF40352;AAI40249;AAI46523;AAK95037;AAP32479;AAP32480;AAP32481;AAP32482;AAP32483;AAP32484;AAP32485;AAP32486;AAP32487;AAP32488;AAP32489;AAP32490;AAP32491;AAP32492;AAP32493;AAP32494;AAP32495;AAP32496;AAP32497;AAP32498;AAP32499;AAP32500;AAP32501;AAP32502;AAP32503;AAP32504;AAP32505;AAP32506;AAP32507;AAP32508;AAP32509;AAP32510;BAC05938;BAG53850;CAJ56791;DAA04846;EAW87531;NP_473448;Q8NGS2 Hs.460145 FLJ16828;HG152;HSA5;OR1J3;OR1J5;OR9-19;OST044 HTPCRX15;OTTHUMP00000022051;olfactory receptor 1J2;olfactory receptor 1J3;olfactory receptor 1J5;olfactory receptor OR9-19;olfactory receptor, family 1, subfamily J, member 3;olfactory receptor, family 1, subfamily J, member 5 APPROVED protein-coding ENSG00000197233 8209 14917 PROVISIONAL 1347026 OR1E2 olfactory receptor, family 1, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3349902 3350873 - 3282914 3283885 - 3336164 3337135 - 1580863;6480464 8004088;15489334;14983052;12477932;12213199;10673334;9500546;804088;22145905 8388 P47887;Q6IFM7 ABBA01054737;AC025125;AF087925;AF095725;AF399551;AMYH01008030;BC121105;BC121106;BK004235;BK004352;CH471108;CS248560;NM_003554;U04686;U76377;U86241;U86242 AAA18349;AAC39621;AAC39622;AAD00249;AAF03260;AAF37315;AAI21106;AAI21107;AAK95036;CAJ56797;DAA04633;DAA04750;EAW90513;NP_003545;P47887 Hs.533931 OR17-135;OR17-93;OR1E4;OR1E7;OST529 OR17-136;OTTHUMP00000115810;olfactory receptor 17-93/17-135/17-136;olfactory receptor 1E2;olfactory receptor 1E4;olfactory receptor OR17-17;olfactory receptor OR17-3;olfactory receptor, family 1, subfamily E, member 4;olfactory receptor, family 1, subfamily E, member 7 APPROVED protein-coding ENSG00000127780 8190 17686 PROVISIONAL 1352426 OR1L1 olfactory receptor, family 1, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96072313 96073245 + 124463666 124464748 + 125423995 125424927 + 14983052 26737 Q8NH94 AB065491;ABBA01043717;AL162254;AMYH01021694;BK004230;CH471090;NM_001005236 AAI46391;AAI53161;BAC05743;DAA04628;EAW87540;NP_001005236;Q8NH94 Hs.567736 HG23;OR1L2;OR9-27;OR9-C OTTHUMP00000022063;olfactory receptor 1L1;olfactory receptor 1L2;olfactory receptor 9-C;olfactory receptor OR9-27;olfactory receptor, family 1, subfamily L, member 2 APPROVED protein-coding ENSG00000173679 8213 14920 VALIDATED 1346374 OR1J1 olfactory receptor, family 1, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95887554 95888522 - 124279058 124280026 - 125239237 125240205 - 1580863 15164053;14983052;12213199;12477932 347168 Q8NGS3 AB065716;ABBA01043714;AF399554;AL359636;AMYH01021694;BC136933;BC136938;BK004452;CH471090;NM_001004451 AAI36934;AAI36939;AAK95039;BAC05937;DAA04850;EAW87532;NP_001004451;Q8NGS3 Hs.632692 OR9-18;hg32 OTTHUMP00000022050;olfactory receptor 1J1;olfactory receptor OR9-18 APPROVED protein-coding ENSG00000136834 8208 14916 PROVISIONAL 1350140 OR1I1 olfactory receptor, family 1, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 15093586 15094653 + 15058877 15059944 + 15197877 15198944 + 6480464 15057824;12213199;12477932 126370 O60431 ABBA01051095;AC004794;AF399548;AMYH01009543;BC140930;CH471106;NM_001004713 AAC18915;AAI40931;AAK95033;EAW84460;NP_001004713;O60431 Hs.631610 OR19-20;OR1I1P;OR1I1Q olfactory receptor 19-20;olfactory receptor 1I1 APPROVED protein-coding ENSG00000094661 8207 14915 PROVISIONAL 1352858 OR1L4 olfactory receptor, family 1, subfamily L, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96134586 96135521 + 124526090 124527025 + 125486269 125487204 + 1580863 14983052;12213199 254973 Q8NGR5 AB065724;ABBA01043717;AC006313;AF399562;AMYH01021694;BK004232;CH471090;NM_001005235 AAK95047;BAC05945;DAA04630;EAW87542;NP_001005235;Q8NGR5 Hs.626838 2219286 OR1L4__5976 OR1L5;OR9-29;OR9-E;OST046 OTTHUMP00000022065;olfactory receptor 1L4;olfactory receptor 1L5;olfactory receptor 9-E;olfactory receptor OR9-29;olfactory receptor, family 1, subfamily L, member 5 APPROVED protein-coding ENSG00000136939 8216 14922 PROVISIONAL 1348262 OR1F1 olfactory receptor, family 1, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3459913 3460851 + 3194248 3195186 + 3254247 3255185 + 1580863;6480464 9500546;15489334;14983052;12477932;12213199;9653642;9288094 4992 O43749;O43875 AB065907;ABBA01026732;AF399559;AJ003147;AMYH01007089;BC069335;BK004247;CH471112;NM_012360;U86234;U86235;U86236;U86237;U86238;U86239;U86264;Y14442 AAC39614;AAC39615;AAC39616;AAC39617;AAC39618;AAC39619;AAC39627;AAH69335;AAK95044;BAC06122;CAA05903;CAA74794;DAA04645;EAW85391;NP_036492;O43749 Hs.664502 1661723;2107459;2165598;5493935 D16S2617;D16S2618;OR1F1__7108;UniSTS:480441 OLFMF;OR16-36;OR16-37;OR16-88;OR16-89;OR16-90;OR1F10;OR1F13P;OR1F4;OR1F5;OR1F6;OR1F7;OR1F8;OR1F9;OR3-145;ORL1023 OTTHUMP00000115580;olfactory receptor 1F1;olfactory receptor, family 1, subfamily F, member 10;olfactory receptor, family 1, subfamily F, member 13 pseudogene;olfactory receptor, family 1, subfamily F, member 4;olfactory receptor, family 1, subfamily F, member 5;olfactory receptor, family 1, subfamily F, member 6;olfactory receptor, family 1, subfamily F, member 7;olfactory receptor, family 1, subfamily F, member 9 APPROVED protein-coding ENSG00000168124 8194 09125 603232 PROVISIONAL 1344733 OR1L6 olfactory receptor, family 1, subfamily L, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96160442 96161377 + 124551840 124552883 + 125512127 125513062 + 12213199;14983052 392390 Q8NGR2 AB065727;ABBA01043717;AC006313;AF399563;AMYH01021694;BK004234;CH471090;NM_001004453 AAK95048;BAC05948;DAA04632;EAW87543;NP_001004453;Q8NGR2 Hs.553790 2219288 OR1L6__5977 HG16;OR1L7;OR9-30 OTTHUMP00000022066;olfactory receptor 1L6;olfactory receptor 1L7;olfactory receptor OR9-30;olfactory receptor, family 1, subfamily L, member 7 APPROVED protein-coding ENSG00000171459 8218 17688 VALIDATED 1346076 OR1M4P olfactory receptor, family 1, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9089074 9089536 - 9054512 9055174 - 9193612 9194074 - 403232 ABBA01029986;AC016584;AMYH01009459;NG_004407 APPROVED pseudo 31244 INFERRED 1354380 OR1J4 olfactory receptor, family 1, subfamily J, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 95929745 95930686 + 124321241 124322182 + 125281420 125282361 + 1580863;6480464 14983052;12213199;1370859;12477932 26219 A3KME5;Q8NGS1 AB065718;ABBA01043714;AF399553;AL359636;AMYH01021694;BC131606;BK004469;CH471090;CS248174;NM_001004452;X64979 AAI31607;AAI60137;AAK95038;BAC05939;CAJ56614;DAA04867;EAW87533;NP_001004452;Q8NGS1 Hs.632679 2109605 OR1J4__5975 HSHTPCRX01;HTPCRX01;OR9-21 OTTHUMP00000022055;olfactory receptor 1J4;olfactory receptor OR9-21 APPROVED protein-coding ENSG00000239590 8211 14918 PROVISIONAL 1321692 OR1G1 olfactory receptor, family 1, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3048125 3049066 - 2976654 2977595 - 3029904 3030845 - 1580863;6480464 8004088;18603653;15489334;14983052;12477932;12379593;10673334;9500546;23472165;22926438 8390 O43876;P47890 ABBA01054733;AC097370;AF087928;AMYH01008027;BC069379;BC095520;BK004243;CH471108;NM_003555;U04689;U53583;U86240 AAA18352;AAC39620;AAC99556;AAF37317;AAH69379;AAH95520;DAA04641;EAW90523;NP_003546;P47890 Hs.248183 5493947 UniSTS:480490 OR17-130;OR17-209;OR1G2 OTTHUMP00000115754;olfactory receptor 17-209;olfactory receptor 1G1;olfactory receptor 1G2;olfactory receptor OR17-8;olfactory receptor, family 1, subfamily G, member 2 APPROVED protein-coding ENSG00000183024 8204 17687 PROVISIONAL 1351301 OR1N1 olfactory receptor, family 1, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95936962 95937897 - 124328458 124329393 - 125288637 125289572 - 1580863;6480464 14983052;12213199;9500546 138883 Q8NGS0 AB065719;ABBA01043716;AF399547;AL359636;AMYH01021694;BK004446;CH471090;CS248172;NM_012363;U86216 AAC39612;AAI56679;AAK95032;BAC05940;CAJ56613;DAA04844;EAW87534;NP_036495;Q8NGS0 Hs.553604 OR1-26;OR1N3;OR9-22 OTTHUMP00000022057;olfactory receptor 1-26;olfactory receptor 1N1;olfactory receptor 1N3;olfactory receptor OR9-22;olfactory receptor, family 1, subfamily N, member 3 APPROVED protein-coding ENSG00000171505 8221 14924 PROVISIONAL 1347497 OR1P1 olfactory receptor, family 1, subfamily P, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3075409 3076401 - 3003934 3004926 - 3057184 3058176 - 16625196;14983052;12730696;12213199;10673334 8391 Q8NH06 ABBA01054733;AC097370;AF087927;AMYH01008027;NG_002153 Q8NH06 OR17-208;OR1P1P APPROVED pseudo 8222 INFERRED 1352741 OR1R1P olfactory receptor, family 1, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3302848 3303886 + 3235790 3237017 + 3289140 3290168 + 10673334 9596 ABBA01054737;AC087498;AF087915;AMYH01008030;NG_002302;U78308 OR17-01;OR17-1;OR1R2P;OR1R3P;OR20A1P APPROVED pseudo 8226 INFERRED 1343888 OR1S1 olfactory receptor, family 1, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55340640 55341617 + 57738793 57739770 + 57982217 57983194 + 14983052 219959 Q8NH92 AB065493;ABBA01021486;AMYH01003658;AP004247;BK004299;CH471076;NM_001004458 BAC05745;DAA04697;EAW73800;NP_001004458;Q8NH92 Hs.553645 2110611 OR1S1__7114 OR11-232;OST034 OTTHUMP00000235989;olfactory receptor 1S1;olfactory receptor OR11-232 APPROVED protein-coding ENSG00000172774 8227 17690 VALIDATED 1344670 OR1S2 olfactory receptor, family 1, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55329099 55330076 - 57727252 57728229 - 57970676 57971653 - 6480464 14983052;12213199 219958 Q8NGQ3 AB065736;ABBA01021486;AF399557;AMYH01003658;AP004247;BK004297;CH471076;CS248102;NM_001004459 AAK95042;BAC05957;CAJ56578;DAA04695;EAW73799;NP_001004459;Q8NGQ3 Hs.553644 OR11-231 OTTHUMP00000235987;olfactory receptor 1S2;olfactory receptor OR11-231 APPROVED protein-coding ENSG00000197887 15141 14927 VALIDATED 1605486 OR1X1P olfactory receptor, family 1, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 q35.2 175365654 175367098 + 175433148 175434392 + 402236 ABBA01189141;AC139491;AMYH01015842;AMYH01015843;AMYH01015844;AMYH01015845;NG_004630 APPROVED pseudo 15062 INFERRED 1347631 OR1X5P olfactory receptor, family 1, subfamily X, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 q35.3 177195920 177197371 - 177263413 177264664 - 402240 AC140125;AMYH01015901;NG_004631 APPROVED pseudo 31245 INFERRED 1352035 OR2A1 olfactory receptor, family 2, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 q35 143646151 143647083 + 144015218 144016150 + 6480464 14983052;12213199;10737800 346528 Q8NGT9 AC074386;AF399597;AMYH01018082;BK004217;BK004418;NM_001005287 AAK95082;DAA04615;DAA04816;NP_001005287;Q8NGT9 Hs.528398 2172760 GDB:1317526 OR2A42 OTTHUMP00000212572;olfactory receptor 2A1/2A42;olfactory receptor OR7-16;olfactory receptor OR7-19;olfactory receptor, family 2, subfamily A, member 1 APPROVED protein-coding ENSG00000221970 8229 14928 PROVISIONAL 1352434 OR1K1 olfactory receptor, family 1, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96210746 96211696 + 124602223 124603173 + 125562402 125563352 + 1580863;6480464 12213199;12477932;20583170 392392 Q8NGR3 AB065726;ABBA01043717;AF399622;AL359512;AMYH01021694;BC137033;BC137034;CH471090;CS248372;NM_080859 AAI37034;AAI37035;AAK95107;BAC05947;CAJ56706;EAW87545;NP_543135;Q8NGR3 Hs.632681 hg99 OTTHUMP00000022071;olfactory receptor 1K1 APPROVED protein-coding ENSG00000165204 8212 14919 PROVISIONAL 1350322 OR2A13P olfactory receptor, family 2, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138472306 138473512 + 143469961 143471167 + 143839028 143840234 + 392140 AACC02000107;AB065691;ABBA01000976;AC091768;AMYH01018074;CH236959;NG_004375 APPROVED pseudo 15083 INFERRED 1342778 OR1L3 olfactory receptor, family 1, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96085727 96086701 + 124477230 124478204 + 125437409 125438383 + 1580863 15164053;14983052;12477932 26735 Q8NH93 AB065492;ABBA01043717;AL162254;AMYH01021694;BC136857;BC136859;BK004231;CH471090;CS248170;NM_001005234 AAI36858;AAI36860;BAC05744;CAJ56612;DAA04629;EAW87541;NP_001005234;Q8NH93 Hs.626839 1776154 AFMa239xe9 OR9-28;OR9-D OTTHUMP00000022064;olfactory receptor 1L3;olfactory receptor 9-D;olfactory receptor OR9-28 APPROVED protein-coding ENSG00000171481 8215 14921 PROVISIONAL 1346785 OR2A15P olfactory receptor, family 2, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138448837 138449733 - 143446390 143447486 - 143815557 143816453 - 9847074 135942 AACC02000107;ABBA01000976;AC091768;AMYH01018074;CH236959;NG_004290 OR2A23P;OR2A28P APPROVED pseudo 15085 INFERRED 1351781 OR1L8 olfactory receptor, family 1, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95978150 95979079 - 124369648 124370577 - 125329827 125330756 - 1580863 14983052;12213199;12477932 138881 Q8NGR8 AB065721;ABBA01043716;AF399564;AL359636;AMYH01021694;BC140910;BK004447;CH471090;CS248176;NM_001004454 AAI40911;AAK95049;BAC05942;CAJ56615;DAA04845;EAW87536;NP_001004454;Q8NGR8 Hs.632695 OR9-24 OTTHUMP00000022058;olfactory receptor 1L8;olfactory receptor OR9-24 APPROVED protein-coding ENSG00000171496 15110 14923 PROVISIONAL 1347218 OR1N2 olfactory receptor, family 1, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 95963773 95964765 + 124355270 124356262 + 125315449 125316441 + 6480464 14983052;12213199;12477932;20583170 138882 Q8NGR9 AB065720;ABBA01043716;AF399536;AL359636;AMYH01021694;BC137182;BC137183;BK004445;CH471090;NM_001004457 AAI37183;AAI37184;AAK95021;BAC05941;DAA04843;EAW87535;NP_001004457;Q8NGR9 Hs.632682 OR9-23 OTTHUMP00000022056;olfactory receptor 1N2;olfactory receptor OR9-23 APPROVED protein-coding ENSG00000171501 15111 14925 PROVISIONAL 1350413 OR1M1 olfactory receptor, family 1, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9099366 9100307 + 9064921 9065862 + 9203921 9204862 + 1580863;6480464 14983052;12213199;12477932;21139048 125963 Q8NGA1 AB065925;ABBA01029986;AC011464;AF399549;AMYH01009459;BC137551;BC137555;BK004269;CH471106;NM_001004456 AAI37552;AAI37556;AAK95034;BAC06140;DAA04667;EAW84006;NP_001004456;Q8NGA1 Hs.553577 OR19-5;OR19-6 olfactory receptor 19-6;olfactory receptor 1M1;olfactory receptor OR19-5 APPROVED protein-coding ENSG00000170929 8220 17689 PROVISIONAL 1345044 OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96025341 96026285 + 124416838 124417782 + 125377017 125377961 + 1580863;6480464 9119360;14983052;12213199;12477932;18029348 158131 Q15612 AB065722;ABBA01043717;AF399561;AL162254;AMYH01021694;BC140713;BK004228;CH471090;NM_012364;X89667 AAI40714;AAK95046;BAC05943;CAA61814;DAA04626;EAW87538;NP_036496;Q15612 Hs.684864 HSTPCR106;OR1Q2;OR1Q3;OR9-25;OR9-A;OST226;OST226OR9-A;TPCR106 OTTHUMP00000022060;olfactory receptor 1Q1;olfactory receptor 1Q2;olfactory receptor 1Q3;olfactory receptor 9-A;olfactory receptor OR9-25;olfactory receptor TPCR106;olfactory receptor, family 1, subfamily Q, member 2;olfactory receptor, family 1, subfamily Q, member 3 APPROVED protein-coding ENSG00000165202 8223 14926 PROVISIONAL 1343745 OR2A3P olfactory receptor, family 2, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138487430 138488762 + 143485052 143486385 + 143854119 143855452 + 12213199 202861 AACC02000107;AB065480;ABBA01000976;AC004889;AF399461;AMYH01018074;CH236959;NG_004292 OR2A18P APPROVED pseudo 8231 INFERRED 1346511 OR2A41P olfactory receptor, family 2, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138407759 138408220 + 143405319 143405980 + 143774486 143774947 + 9847074 403234 AACC02000107;ABBA01000976;AC091768;AMYH01018074;CH236959;NG_004408 APPROVED pseudo 31246 INFERRED 1343723 OR2A42 olfactory receptor, family 2, subfamily A, member 42 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 q35 143559937 143560851 - 143929004 143929936 - 1580863;6480464 14983052;12213199 402317 Q8NGT9 AB065692;ABBA01000976;AC004889;AMYH01018074;NM_001001802 BAC05915;NP_001001802;Q8NGT9 Hs.591830 2172760 GDB:1317526 OR2A1 OTTHUMP00000212562;olfactory receptor 2A1/2A42;olfactory receptor OR7-16;olfactory receptor OR7-19 APPROVED protein-coding ENSG00000212807 31230 18486 PROVISIONAL 1344604 OR2A14 olfactory receptor, family 2, subfamily A, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138459489 138460418 + 143457139 143458071 + 143826206 143827138 + 6480464 14983052;12213199;12477932 135941 Q96R47 AACC02000107;AB065693;ABBA01000976;AC091768;AF399596;AMYH01018074;BC136889;BK004421;CH236959;CH878732;NM_001001659 AAI36890;AAK95081;BAC05916;DAA04819;EAL23799;EAW55633;NP_001001659;Q96R47 Hs.534547 2107461 OR2A14__7116 OR2A14P;OR2A6;OST182 OTTHUMP00000212567;olfactory receptor 2A14;olfactory receptor 2A6;olfactory receptor OR7-12;olfactory receptor, family 2, subfamily A, member 14 pseudogene;olfactory receptor, family 2, subfamily A, member 6 APPROVED protein-coding ENSG00000221938 15084 14930 PROVISIONAL 1346557 OR2A12 olfactory receptor, family 2, subfamily A, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138425478 138426410 + 143423134 143424066 + 143792201 143793133 + 1580863;6480464 14983052;12690205;12644552;12213199;12477932 346525 A4D2G4;Q8NGT7 AACC02000107;AB065694;ABBA01000976;AC091768;AF399462;AF546378;AF546391;AMYH01018074;BC136902;BC136903;BK004419;CH236959;CH878732;NM_001004135 AAI36903;AAI36904;BAC05917;DAA04817;EAL23798;EAW55631;NP_001004135;Q8NGT7 Hs.553708 2219290 OR2A12__5985 OR2A12P;OR2A16P OTTHUMP00000212563;olfactory receptor 2A12;olfactory receptor OR7-10;olfactory receptor, family 2, subfamily A, member 12 pseudogene;olfactory receptor, family 2, subfamily A, member 16 pseudogene APPROVED protein-coding ENSG00000221858 15082 14929 PROVISIONAL 1348102 OR2A2 olfactory receptor, family 2, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138439957 138440913 + 143437609 143438565 + 143806676 143807632 + 14983052;12853948;12213199;12477932 442361 Q6IF42 AACC02000107;AB065695;ABBA01000976;AC091768;AF399459;AMYH01018074;BC136742;BK004420;CH236959;CH878732;NM_001005480 AAI36743;BAC05918;DAA04818;EAW55632;NP_001005480;Q6IF42 Hs.553841 OR2A17P;OR2A2P;OR7-11;OST008 OTTHUMP00000212565;olfactory receptor 2A17;olfactory receptor 2A2;olfactory receptor OR7-11;olfactory receptor, family 2, subfamily A, member 17 pseudogene;olfactory receptor, family 2, subfamily A, member 2 pseudogene APPROVED protein-coding ENSG00000221989 8230 14931 VALIDATED 1345178 OR2AD1P olfactory receptor, family 2, subfamily AD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30600567 30601494 - 29102336 29103463 - 28994457 28995384 - 79313 ABBA01038029;AL662791;AL662865;AL929561;AMYH01016195;BX248413;BX927167;CR759835;CR759957;CR936923;NG_002239;Z84476 OR2AD1;hs6M1-8P APPROVED pseudo 14749 INFERRED 1601907 OR2A20P olfactory receptor, family 2, subfamily A, member 20 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 q35 143578497 143579629 - 143947767 143948696 - 14983052;12477932 401428 ABBA01000976;AC004889;AF327904;AK172840;AMYH01018074;BC016940;BK004757;NR_002158 Hs.490448;Hs.591830;Hs.718763 1688340;2158394 GDB:4585622;RH93846 OR2A20 APPROVED pseudo ENSG00000170356 15413 PROVISIONAL 1348446 OR2AF1P olfactory receptor, family 2, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131139483 131140372 + 130580629 130581718 + 130753049 130753938 + 79331 ABBA01042143;AL109853;AMYH01022982;NG_002257 OR2AF2P APPROVED pseudo 14719 INFERRED 1343005 OR2A25 olfactory receptor, family 2, subfamily A, member 25 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138404581 138405513 + 143402246 143403178 + 143771313 143772245 + 6480464 19023099;17975119;12477932 392138 A4D2G3 AACC02000107;ABBA01000976;AC091768;AMYH01018074;BC136814;BC136829;CH236959;CH878732;NM_001004488 A4D2G3;AAI36815;AAI36830;EAL23797;EAW55630;NP_001004488 Hs.553787 OR2A24P;OR2A25P;OR2A27 OTTHUMP00000212576;olfactory receptor 2A25;olfactory receptor 2A27;olfactory receptor, family 2, subfamily A, member 24 pseudogene;olfactory receptor, family 2, subfamily A, member 25 pseudogene;olfactory receptor, family 2, subfamily A, member 27 APPROVED protein-coding ENSG00000221933 19562 17691 PROVISIONAL 1348744 OR2A7 olfactory receptor, family 2, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 q35 143586722 143587654 - 143955789 143956721 - 1580863;6480464 14983052;12213199;12477932 401427 Q96R45;Q9BZC5 ABBA01000976;AC004889;AF327904;AF399598;AMYH01018074;BC136704;BC136711;BK004218;BK004610;NM_001005328 AAG50283;AAI36705;AAI36712;AAK95083;DAA04616;NP_001005328;Q96R45 Hs.658609;Hs.718763 HSDJ0798C17;OR2A21 OTTHUMP00000212566;olfactory receptor 2A7;olfactory receptor OR7-18;olfactory receptor OR7-20;olfactory receptor, family 2, subfamily A, member 21 APPROVED protein-coding ENSG00000243896 8234 14933 PROVISIONAL 1343457 OR2A5 olfactory receptor, family 2, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138380756 138381691 + 143378428 143379363 + 143747495 143748430 + 6480464 12213199;9500546;12477932;23251661 393046 Q8N0W0;Q96R48 AACC02000107;AB065477;AB065610;ABBA01000976;AC091768;AF399595;AMYH01018074;BC136858;BC136860;CH236959;CH878732;NM_012365;U86278;U86281 AAC39630;AAC39633;AAI36859;AAI36861;AAK95080;BAC05731;BAC05837;EAW55629;NP_036497;Q96R48 Hs.553793 2219292 OR2A5__5989 OR2A11P;OR2A26;OR2A8;OR7-138;OR7-141 OTTHUMP00000212573;olfactory receptor 2A26;olfactory receptor 2A5;olfactory receptor 2A8;olfactory receptor 7-138/7-141;olfactory receptor, family 2, subfamily A, member 11 pseudogene;olfactory receptor, family 2, subfamily A, member 26;olfactory receptor, family 2, subfamily A, member 8 APPROVED protein-coding ENSG00000221836 8232 14932 PROVISIONAL 1350840 OR2AH1P olfactory receptor, family 2, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53784181 53785105 - 56192972 56194096 - 56436496 56437420 - 81336 ABBA01021463;AMYH01003650;AP004245;NG_004244 APPROVED pseudo 15144 INFERRED 1606720 OR2AI1P olfactory receptor, family 2, subfamily AI, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175743762 175744690 - 180052341 180053469 - 180119835 180120763 - 134082 ABBA01010079;AC122714;AMYH01015972;NG_004289 APPROVED pseudo 15063 INFERRED 1606466 OR2AJ1 olfactory receptor, family 2, subfamily AJ, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221382749 221383691 + 246163802 246164744 + 248097179 248098121 + 14983052 127608 Q8NGZ0 AB065626;ABBA01031794;AC099571;AMYH01001922;BK004621;NG_004652 BAC05852;Q8NGZ0 OR2AJ1P;OR2AJ1Q APPROVED pseudo 15001 INFERRED 1353667 OR2AL1P olfactory receptor, family 2, subfamily AL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q22.3 102228999 102229935 - 104570037 104570973 - 105064827 105065763 - 79547 ABBA01039911;AC017094;AMYH01004004;AP003181;NG_002273 APPROVED pseudo 14712 INFERRED 1348816 OR2AM1P olfactory receptor, family 2, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35955257 35955661 + 36011608 36012212 + 36021709 36022113 + 12906860 81366 ABBA01050437;AL138834;AMYH01019348;NG_004255 OR37E APPROVED pseudo 15113 INFERRED 1352298 OR2AO1P olfactory receptor, family 2, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138507138 138507915 + 143504666 143505642 + 143873834 143874610 + 9847074 403235 AACC02000107;ABBA01000976;AC004889;AMYH01018074;CH236959;NG_004409 APPROVED pseudo 31247 INFERRED 1344568 OR2AP1 olfactory receptor, family 2, subfamily AP, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55620675 55621601 + 54254366 54255492 + 55968199 55969128 + 6480464 14983052 121129 Q8NGE2 AB065868;ABBA01008383;AC009779;AMYH01004492;BK004260;NM_001258285 BAC06086;DAA04658;NP_001245214;Q8NGE2 Hs.742584 OR2AP1P olfactory receptor 2AP1;olfactory receptor OR12-9;olfactory receptor, family 2, subfamily AP, member 1 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000179615 15335 VALIDATED 1604780 OR2AQ1P olfactory receptor, family 2, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131836161 131836401 + 157032311 157032751 + 158765788 158766028 + 81474 ABBA01016624;AL513205;AMYH01001443;NG_004276 APPROVED pseudo 15003 INFERRED 1345677 OR2AS1P olfactory receptor, family 2, subfamily AS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221943599 221944080 + 246779246 246779927 - 248712723 248713204 - 81473 ABBA01031805;AC098483;AMYH01001940;NG_004705 APPROVED pseudo 15004 INFERRED 1344295 OR2AS2P olfactory receptor, family 2, subfamily AS, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221943732 221944081 + 246728134 246728683 + 248661612 248661961 + 403236 ABBA01031803;AC138089;AMYH01001931;NG_004706 APPROVED pseudo 31248 INFERRED 1344508 OR2AT1P olfactory receptor, family 2, subfamily AT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 72148699 72149468 - 74519696 74520665 - 74842148 74842917 - 390225 ABBA01017473;AMYH01003813;AP001972;NG_004338 APPROVED pseudo 15145 INFERRED 1352196 OR2A4 olfactory receptor, family 2, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 q23 132768253 132769185 - 132063302 132064234 - 132021609 132022541 - 1580863 15489334;14983052;14574404;12477932;10737800 79541 O95047 ABBA01025889;AC005587;AL135904;AL157377;AMYH01016674;BC120953;BC120954;BK004444;NM_030908 AAD05193;AAI20954;AAI20955;CAB99212;CAC05481;DAA04842;NP_112170;O95047 Hs.734368 OR2A10 OTTHUMP00000045616;olfactory receptor 2A10;olfactory receptor 2A4;olfactory receptor OR6-37;olfactory receptor, family 2, subfamily A, member 10 APPROVED protein-coding ENSG00000180658 14729 17692 PROVISIONAL 1351251 OR2AT2P olfactory receptor, family 2, subfamily AT, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 72088725 72089696 - 74459713 74460884 - 74782165 74783136 - 390224 ABBA01017474;AMYH01003813;AP003175;NG_004337 APPROVED pseudo 19619 INFERRED 1351644 OR2A9P olfactory receptor, family 2, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 q35 143625848 143628960 + 143996614 143997598 + 6480464 12644552;12477932;12213199;10737800;9847074;9500546;7566098 441295 AB065477;AB065610;AC074386;AF327904;AF399463;AF546392;AK172840;AMYH01018088;BC016940;NR_002157;U86282 Hs.490448;Hs.591830;Hs.718763 2158394;5113263 GDB:4585622;RH79568 FKSG35;HSDJ0798C17;OR2A19;OR2A22P;OR2A9 APPROVED pseudo ENSG00000228960 8236 PROVISIONAL 1344866 OR2AE1 olfactory receptor, family 2, subfamily AE, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94207935 94208906 - 99311621 99312592 - 99473685 99474656 - 1580863 16314882;9847074;12477932 81392 Q8NHA4 AACC02000084;AB065478;ABBA01013244;AC011904;AMYH01017726;BC137375;BC137376;CH236956;CH471091;CS248242;NM_001005276 AAI37376;AAI37377;BAC05732;CAJ56646;EAW76629;NP_001005276;Q8NHA4 Hs.647523 OR2AE2 OTTHUMP00000210305;olfactory receptor 2AE1;olfactory receptor 2AE2;olfactory receptor, family 2, subfamily AE, member 2 APPROVED protein-coding ENSG00000244623 15087 14934 PROVISIONAL 1351829 OR2AG1 olfactory receptor, family 2, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6925343 6926340 + 6762845 6763795 + 6806248 6807245 + 6480464 17005854;16565291;14983052;12213199;11416212;12477932 144125 Q9H205 AB065823;ABBA01028672;AC087280;AF321237;AF399618;AMYH01003368;BC151143;BK004295;CH471064;CS248194;NM_001004489 AAG45209;AAI51144;AAK95103;BAC06042;CAJ56623;DAA04693;EAW68677;NP_001004489;Q9H205 Hs.553608 2219294 OR2AG1__5990 OR11-79;OR2AG3 OTTHUMP00000230844;hT3 olfactory receptor;olfactory receptor 2AG1;olfactory receptor 2AG3;olfactory receptor OR11-79;olfactory receptor, family 2, subfamily AG, member 3 APPROVED protein-coding ENSG00000170803 15142 14935 VALIDATED 1348346 OR2B4P olfactory receptor, family 2, subfamily B, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30864537 30865691 + 29366352 29367506 + 29258373 29259527 + 12213199 442190 AB065472;ABBA01038030;AF399496;AL662781;AL662857;AMYH01016195;BX005432;BX908738;CR753509;CR933842;CR936918;NG_004686 hs6M1-22 APPROVED pseudo 8239 INFERRED 1351300 OR2AG2 olfactory receptor, family 2, subfamily AG, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6908338 6909288 - 6745814 6746764 - 6789238 6790188 - 14983052;12213199;12477932 338755 A6NM03 AB065539;ABBA01028671;AC091564;AF399487;AMYH01003368;BC140734;BK004747;CH471064;NM_001004490 A6NM03;AAI40735;EAW68678;NP_001004490 Hs.534614 OR11-76;OR2AG2P OTTHUMP00000231353;olfactory receptor 2AG2;olfactory receptor OR11-76 pseudogene;olfactory receptor, family 2, subfamily AG, member 2 pseudogene APPROVED protein-coding ENSG00000188124 15143 14936 PROVISIONAL 1344530 OR2B7P olfactory receptor, family 2, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29620269 29621203 + 28122091 28123225 + 28014213 28015147 + 23247143 81695 ABBA01038013;AL121944;AMYH01016189;NG_004280 hs6M1-31P APPROVED pseudo 13967 INFERRED 1346989 OR2B8P olfactory receptor, family 2, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29626966 29628104 - 28128885 28130022 - 28020906 28022043 - 14574404 65944 P59922 ABBA01038013;AC025941;AL121944;AMYH01016189;NG_003194 P59922 OR2B8;OR6-10;dJ313I6.4;hs6M1-29P APPROVED pseudo 13968 INFERRED 1350969 OR2BH1P olfactory receptor, family 2, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p14.1 29152850 29153713 + 28964658 28965721 + 29008182 29009045 + 403238 AC027465;AMYH01003460;NG_004410 APPROVED pseudo 31250 INFERRED 1343468 OR2AK2 olfactory receptor, family 2, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221414211 221415218 + 246195257 246196264 + 248128634 248129641 + 1580863;6480464 14983052;12477932 391191 Q8NG84 AB065951;ABBA01031794;AC099570;AMYH01001923;BC136816;BK004457;CH471148;NM_001004491 AAI36817;BAC06164;DAA04855;EAW77212;NP_001004491;Q8NG84 Hs.690413 OR1-47;OR2AK1P OTTHUMP00000038053;olfactory receptor 2AK1;olfactory receptor 2AK2;olfactory receptor OR1-47;olfactory receptor, family 2, subfamily AK, member 1 pseudogene APPROVED protein-coding ENSG00000187080 19569 17693 PROVISIONAL 1348041 OR2AT4 olfactory receptor, family 2, subfamily AT, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 72106356 72107318 - 74477444 74478406 - 74799796 74800758 - 14983052;12477932 341152 A6NND4 ABBA01017474;AMYH01003813;AP003175;BC136958;BC136959;BK004820;NM_001005285 A6NND4;AAI36959;AAI36960;NP_001005285 Hs.554515 2107463 OR2AT4__7119 OR11-265 OTTHUMP00000229545;olfactory receptor 2AT4;olfactory receptor OR11-265 pseudogene;olfactory receptor, family 2, subfamily AT, member 4 APPROVED protein-coding ENSG00000171561 19620 17694 PROVISIONAL 1349718 OR2B11 olfactory receptor, family 2, subfamily B, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 220913080 220914033 - 245680954 245681907 - 247614331 247615284 - 6480464 19098911;16710414;12477932 127623 Q5JQS5 ABBA01031788;AL606804;AMYH01001912;BC137181;BC137205;CH471148;NM_001004492 AAI37182;AAI37206;EAW77188;NP_001004492;Q5JQS5 Hs.446999 2219296 OR2B11__5994 OTTHUMP00000038357;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2B11 APPROVED protein-coding ENSG00000177535 31249 14937 PROVISIONAL 733998 OR2B2 olfactory receptor, family 2, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.3-p21.3 29484991 29486202 - 27987003 27988076 - 27878963 27880174 - 1580863;6480464 14983052;14574404;12477932 81697 Q6IFA1;Q9GZK3 ABBA01038011;AJ302584;AJ302585;AJ302586;AJ302587;AJ302588;AJ302589;AJ302590;AJ302591;AJ302592;AJ302593;AMYH01016189;BC136881;BC136901;BK004361;CH471081;NM_033057;Z98744 AAI36882;AAI36902;CAC20504;CAC20505;CAC20506;CAC20507;CAC20508;CAC20509;CAC20510;CAC20511;CAC20512;CAC20513;DAA04759;EAX03125;NP_149046;Q9GZK3 Hs.307111 OR2B2Q;OR2B9;OR6-1;dJ193B12.4;hs6M1-10 OTTHUMP00000016192;olfactory receptor;olfactory receptor 2B2;olfactory receptor 2B9;olfactory receptor 6-1;olfactory receptor OR6-2;olfactory receptor, family 2, subfamily B, member 9 APPROVED protein-coding ENSG00000168131 13966 17695 VALIDATED 1345854 OR2E1P olfactory receptor, family 2, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22-p21.3 30029735 30030362 - 28531185 28532012 - 28423307 28423934 - 9847074 26719 ABBA01038019;AC005678;AMYH01016190;NG_004088;Z98745 HS29K1;HSNH0569I24;OR2E1;OR2E2;hs6M1-9;hs6M1-9p APPROVED pseudo 15507 INFERRED 1351242 OR2B3 olfactory receptor, family 2, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30660089 30661194 - 29162063 29163004 - 29053985 29055090 - 1580863;6480464 18040051;14983052;14574404;12637542;12477932;12213199;19851445 442184 O76000 ABBA01038030;AF399632;AJ302537;AJ302538;AJ302539;AJ302540;AJ302541;AJ302542;AJ302543;AJ302544;AJ302545;AJ302546;AJ459873;AL022727;AL662791;AL662852;AL929561;AMYH01016195;BC136817;BC136818;BK004436;BX248093;BX248413;CH471081;CR388407;CR547123;CR933783;CR942175;NM_001005226 AAK95117;CAA18782;CAC20462;CAC20463;CAC20464;CAC20465;CAC20466;CAC20467;CAC20468;CAC20469;CAC20470;CAC20471;DAA04834;EAX03182;NP_001005226;O76000 Hs.553835 6M1-1;OR2B3P;OR6-14;OR6-4 OTTHUMP00000029334;hs6M1-1;olfactory receptor 6-4;olfactory receptor OR6-14;putative olfactory receptor 2B3 APPROVED protein-coding ENSG00000204703 8238 14938 VALIDATED 1346885 OR2B6 olfactory receptor, family 2, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29531055 29531996 + 28032998 28033939 + 27925019 27925960 + 1580863 15489334;14983052;14574404;12477932;9500546 26212 P58173 ABBA01038012;AL133267;AMYH01016189;BC109251;BC110457;BK004373;CH471081;CS248082;NM_012367;U86270;U86275 AAC39628;AAI09252;AAI10458;CAJ56568;DAA04771;EAX03127;NP_036499;P58173 Hs.532145 1338798;2140113;5493173;7186762 D6S306;RH46275;UniSTS:484585 MGC120190;MGC129828;OR2B1;OR2B1P;OR2B5;OR2B6P;OR5-40;OR5-41;OR6-31;dJ408B20.2 OTTHUMP00000016193;hs6M1-32;olfactory receptor 2B1;olfactory receptor 2B5;olfactory receptor 2B6;olfactory receptor 5-40;olfactory receptor 6-31;olfactory receptor OR6-4;olfactory receptor, family 2, subfamily B, member 1 pseudogene;olfactory receptor, family 2, subfamily B, member 5;olfactory receptor, family 2, subfamily B, member 6 pseudogene APPROVED protein-coding ENSG00000124657 8241 17696 VALIDATED 1353058 OR2G1P olfactory receptor, family 2, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.32 30803152 30804142 - 29304986 29305976 - 29197007 29197997 - 14983052 26717 ABBA01038030;AL645937;AL662857;AL935156;AMYH01016195;BK004668;BX248084;BX908738;CR753509;NG_004689 OR6-22;OST619;hs6M1-25 APPROVED pseudo 8251 INFERRED 1345086 OR2D2 olfactory receptor, family 2, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7031907 7032833 - 6869381 6870307 - 6912805 6913731 - 1580863;6480464 9787077;14983052;12213199;12477932 120776 Q9H210 AB065824;ABBA01028674;AC087280;AF065876;AF321237;AF399591;AMYH01003368;BC140729;BK004434;CH471064;NM_003700 AAC70020;AAG45204;AAI40730;AAK95076;BAC06043;DAA04832;EAW68673;NP_003691;Q9H210 Hs.690210 2106557 OR2D2__5998 OR11-610;OR2D1;hg27 HB2;OTTHUMP00000230849;olfactory receptor 11-610;olfactory receptor 2D1;olfactory receptor 2D2;olfactory receptor OR11-88;olfactory receptor, family 2, subfamily D, member 1 APPROVED protein-coding ENSG00000166368 8244 12247 608494 PROVISIONAL 1346302 OR2G2 olfactory receptor, family 2, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221050459 221051412 + 245818285 245819238 + 247751662 247752615 + 1580863;6480464 16710414;14983052 81470 Q8NGZ5 AB065621;ABBA01031788;AL606804;AMYH01001913;BK004472;CH471148;NM_001001915 BAC05847;DAA04870;EAW77195;NP_001001915;Q8NGZ5 Hs.690208 OR1-32 OTTHUMP00000038360;olfactory receptor 2G2;olfactory receptor OR1-32;olfactory receptor, family 2, subfamily G, member 2 pseudogene APPROVED protein-coding ENSG00000177489 15007 11412 PROVISIONAL 1354348 OR2D3 olfactory receptor, family 2, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7061307 7062299 + 6898809 6899801 + 6942233 6943225 + 6480464 14983052;12213199;12477932 120775 Q8NGH3 AB065825;ABBA01028674;AC090160;AF399592;AMYH01003368;BC137208;BC137209;BK004294;CH471064;NM_001004684 AAI37209;AAI37210;AAK95077;BAC06044;DAA04692;EAW68672;NP_001004684;Q8NGH3 Hs.446766 2219298 OR2D3__5999 OR11-89 OTTHUMP00000230850;olfactory receptor 2D3;olfactory receptor OR11-89 APPROVED protein-coding ENSG00000178358 15146 17698 PROVISIONAL 1342915 OR2C1 olfactory receptor, family 2, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3612661 3613696 + 3345890 3346925 + 3405889 3406924 + 1580863;6480464 9847080;15489334;14983052;12477932 4993 O95371 ABBA01026740;AC025283;AF098664;AMYH01007093;BC069158;BC069456;BC126269;BC130328;BK004407;BK004428;CH471112;NM_012368 AAC83557;AAH69158;AAH69456;AAI26270;AAI30329;ADR82923;DAA04805;DAA04826;EAW85373;NP_036500;O95371 Hs.258574 5492445;5493705 UniSTS:481089;UniSTS:490456 MGC163200;MGC95444;OLFmf3;OR2C2P OTTHUMP00000115588;olfactory receptor 2C1;olfactory receptor 2C2;olfactory receptor OR16-1;olfactory receptor OR16-2;olfactory receptor, family 2, subfamily C, member 2 pseudogene APPROVED protein-coding ENSG00000168158 8242 10130 VALIDATED 1346992 OR2C3 olfactory receptor, family 2, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 220992199 220995935 - 245760057 245763764 - 247693434 247697141 - 6480464 15489334;14983052;12477932;12213199;16710414;19684603 81472 Q8N628 AB065649;ABBA01031788;AF399495;AL606804;AMYH01001913;BC030717;BK004471;NM_198074 AAH30717;ABM86441;ABW03797;BAC05875;DAA04869;NP_932340;Q8N628 Hs.730218 OR2C4;OR2C5P;OST742 OTTHUMP00000038363;olfactory receptor 2C3;olfactory receptor 2C4;olfactory receptor 2C5;olfactory receptor OR1-30;olfactory receptor, family 2, subfamily C, member 4;olfactory receptor, family 2, subfamily C, member 5 pseudogene APPROVED protein-coding ENSG00000196242 15005 17697 VALIDATED 1350767 OR2H4P olfactory receptor, family 2, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30789158 30790098 + 29290992 29291932 + 29183013 29183953 + 14983052 442189 AB065473;ABBA01038030;AJ302634;AL022727;AL645937;AL662857;AL935156;AMYH01016195;BK004723;BX248084;BX908738;CR759834;CR933537;NG_004685 6M1-7P;OR2H4;OR6-21;OR6-3;dJ80I19.6;hs6M1-7 APPROVED pseudo 8255 INFERRED 1349294 OR2H5P olfactory receptor, family 2, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31147939 31148517 + 29649829 29650407 + 29541850 29542428 + 14983052 26713 O43627 AB065470;ABBA01038033;AF042075;AF042076;AF042077;AL645936;AL662826;AMYH01016195;BK004545;BK004662;BX000688;BX927223;CR759766;CR759770;CR788300;NG_002319 AAB97431;AAB97432;AAB97433 HS271M21;OLFR42B;OR2H5;OR2H7;OR6-33;OR6-35;hs6M1-13 APPROVED pseudo 8256 INFERRED 1606622 OR2I1P olfactory receptor, family 2, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 31126965 31128023 + 29628861 29629919 + 29520882 29521940 + 14983052;23456168 442197 Q8NGU4 AB065686;ABBA01038032;AL645936;AL662826;AMYH01016195;BK004540;BK004661;BX000688;BX927223;CR759770;CR788300;CR942274;NG_004688 BAC05909;Q8NGU4 1677636;1684288 RH80188;RH93978 HS6M1-14;OR2I1;OR2I2;OR2I3P;OR2I4P;OR2I5P;OR2I6;OR2I7P;OR2I8P;OR2I9P;OR6-1;OR6-34 APPROVED pseudo 8258 INFERRED 1606623 OR2J1 olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30674831 30675766 + 29176699 29177634 + 29068720 29069655 + 6480464 14983052 442185 Q9GZK6 ABBA01038030;AJ302565;AJ302566;AJ302567;AJ302568;AJ302569;AJ302570;AL022727;AL645937;AL662852;AL929561;AMYH01016195;BK004663;BX248093;CR388415;CR547123;CR933783;CR942175;NG_004683 CAC20485;CAC20486;CAC20487;CAC20488;CAC20489;CAC20490;Q9GZK6 6M1-4P;OR2J1P;OR6-15;OR6-5;dJ80I19.2;hs6M1-4 APPROVED pseudo 8259 INFERRED 1349873 OR2F2 olfactory receptor, family 2, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138265655 138266608 + 143263259 143264212 + 143632326 143633279 + 14983052;12853948;12690205;12477932;20855565 135948 O95006 AACC02000107;ABBA01000975;AC004853;AMYH01018073;BC136812;BC136813;BK004214;CH236959;CH878732;NM_001004685 AAI36813;AAI36814;DAA04612;EAL23794;EAW55624;NP_001004685;O95006 Hs.553596 OR7-1 OTTHUMP00000212427;olfactory receptor 2F2;olfactory receptor 7-1;olfactory receptor OR7-6 APPROVED protein-coding ENSG00000221910 8247 14939 PROVISIONAL 1350512 OR2F1 olfactory receptor, family 2, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138290350 138291438 + 143287953 143289041 + 143657020 143658108 + 1580863;6480464 9500546;15489334;14983052;12853948;12690205;12637542;12477932;12213199;9017400 26211 O43887;Q13607 AACC02000107;ABBA01000975;AC004853;AF399594;AJ459869;AMYH01018073;BC104975;BK004215;CH236959;CH878732;NM_012369;U56421;U86279;U86280 AAB01215;AAC39631;AAC39632;AAC64376;AAI04976;AAK95079;DAA04613;EAL23795;EAW55625;NP_036501;Q13607 Hs.553595 2130167 GDB:6028670 OLF3;OR14-60;OR2F3;OR2F3P;OR2F4;OR2F5;OR7-139;OR7-140 OTTHUMP00000212428;olfactory receptor 2F1;olfactory receptor 2F3;olfactory receptor 2F4;olfactory receptor 2F5;olfactory receptor OR7-7;olfactory receptor, family 2, subfamily F, member 3;olfactory receptor, family 2, subfamily F, member 4;olfactory receptor, family 2, subfamily F, member 5;olfactory receptor-like protein OLF3 APPROVED protein-coding ENSG00000213215 8246 16340 608497 PROVISIONAL 1349778 OR2J4P olfactory receptor, family 2, subfamily J, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30755412 30756344 + 29257266 29258198 + 29149287 29150219 + 14983052 442188 Q8NGU6 AB065683;ABBA01038030;AL022727;AL645937;AL662852;AL935156;AMYH01016195;BK004756;BX248093;BX927132;CR388415;CR759834;NG_004684 BAC05906 OR6-20;OR6-9;dJ80I19.5;hs6M1-5 APPROVED pseudo 8262 INFERRED 1343786 OR2G3 olfactory receptor, family 2, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221067685 221068614 + 245835511 245836440 + 247768888 247769817 + 1580863 16710414;14983052;12477932 81469 Q8NGZ4 AB065622;ABBA01031788;AL606804;AMYH01001914;BC136712;BC136713;BK004417;CH471148;CS248398;NM_001001914 AAI36713;AAI36714;BAC05848;CAJ56719;DAA04815;EAW77196;NP_001001914;Q8NGZ4 Hs.653227 OR1-33 OTTHUMP00000038361;olfactory receptor 2G3;olfactory receptor OR1-33 APPROVED protein-coding ENSG00000177476 15008 14940 PROVISIONAL 1603468 OR2G6 olfactory receptor, family 2, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221970901 221971851 - 246751571 246752521 + 248684948 248685898 + 6480464 16710414;12477932 391211 Q5TZ20 ABBA01031804;AMYH01001935;BC137245;BC137266;BX537158;CH471148;NM_001013355 AAI37246;AAI37267;EAW77231;NP_001013373;Q5TZ20 Hs.553784 OTTHUMP00000038279;olfactory receptor 2G6 APPROVED protein-coding ENSG00000188558 27019 18487 VALIDATED 1346691 OR2L1P olfactory receptor, family 2, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221438974 221439898 + 246220192 246221116 + 248153569 248154493 + 6480464 1370859 26247 AB065442;ABBA01031794;AC099570;AMYH01001923;NR_002145;X64980 Hs.684887 HSHTPCRX02;HTPCRX02;OR2L1;OR2L7P APPROVED pseudo ENSG00000224227 8265 PROVISIONAL 1351141 OR2J3 olfactory receptor, family 2, subfamily J, member 3 This gene encodes a G-protein-coupled receptor (GPCR) that functions as an olfactory receptor. Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell. The protein encoded by this gene responds to cis-3-hexen-1-ol, which is released by wounded plants, including cut grass. This gene is situated in a cluster of similar olfactory-receptor coding genes on chromosome 6. [provided by RefSeq, May 2013] 6 6 6 p22.1 30685777 30686712 + 29187647 29188582 + 29079668 29080603 + 1580863;6480464 16939646;14983052;14574404;12213199;11337468;12477932;19851445;12637542;23656994;20881960;22714804 442186 B0V1T3;Q9GZL5 ABBA01038030;AF399630;AJ302547;AJ302548;AJ302549;AJ302550;AJ302551;AJ302552;AJ302553;AJ302554;AJ302555;AJ302556;AJ302557;AJ302558;AL022727;AL645937;AL662852;AL929561;AMYH01016195;BC136973;BC136975;BK004437;BX248093;CR388415;CR547123;CR933783;CR942175;NG_033252;NM_001005216 AAI36974;AAI36976;AAK95115;CAA18783;CAC20472;CAC20473;CAC20474;CAC20475;CAC20476;CAC20477;CAC20478;CAC21440;CAC21441;CAC21442;CAC21443;CAC21444;DAA04835;NP_001005216;O76001 Hs.738947 6M1-3;C3HEXS;HS6M1-3;OR6-16;OR6-6;OR6.3.6;ORL671 OTTHUMP00000029106;olfactory receptor 2J3;olfactory receptor 6-6;olfactory receptor OR6-16 APPROVED protein-coding ENSG00000204701 8261 14941 615016;615082 REVIEWED 1353815 OR2J2 olfactory receptor, family 2, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30747424 30748464 + 29249290 29250330 + 29141311 29142351 + 1580863 16939646;15489334;14983052;14574404;12637542;12477932;11337468;19851445 26707 Q9GZK2 ABBA01038030;AJ302571;AJ302572;AJ302573;AJ302574;AJ302575;AJ302576;AJ302577;AJ302578;AJ302579;AJ302580;AJ302581;AJ302582;AJ302583;AJ459862;AL022727;AL645937;AL662852;AL935156;AMYH01016195;BC069121;BC108896;BC108897;BC108898;BC108899;BK004438;BU171389;BX248093;BX927132;CH471081;CR388415;CR759834;CR774181;NM_030905 AAH69121;AAI08897;AAI08898;AAI08899;AAI08900;CAA18784;CAC20491;CAC20492;CAC20493;CAC20494;CAC20495;CAC20496;CAC20497;CAC20498;CAC20499;CAC20500;CAC20501;CAC20502;CAC20503;DAA04836;EAX03185;NP_112167;O76002 Hs.163518 5493949 UniSTS:480494 MGC119134;MGC119135;MGC119136;MGC119137;OR6-19;OR6-8;OR6.3.8;ORL684;dJ80I19.4;hs6M1-6 OTTHUMP00000029105;olfactory receptor 2J2;olfactory receptor 6-8;olfactory receptor OR6-19 APPROVED protein-coding ENSG00000204700 8260 17700 VALIDATED 1346281 OR2L5 olfactory receptor, family 2, subfamily L, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221470656 221471591 + 246251773 246252908 + 248185250 248186188 + 14983052 81466 Q8NG80 AB065956;ABBA01031794;AC099570;AMYH01001923;BK004458;NM_001258284 BAC06169;DAA04856;NP_001245213;Q8NG80 Hs.742583 OR2L11;OR2L5P olfactory receptor 2L11;olfactory receptor 2L5;olfactory receptor OR1-53;olfactory receptor, family 2, subfamily L, member 11;olfactory receptor, family 2, subfamily L, member 5 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000197454 15011 VALIDATED 1348407 OR2L6P olfactory receptor, family 2, subfamily L, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221451839 221452774 + 246232956 246234091 + 248166433 248167371 + 81465 ABBA01031794;AC099570;AMYH01001923;NG_004274 APPROVED pseudo 15012 INFERRED 1353217 OR2H1 olfactory receptor, family 2, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.32 31032274 31038143 + 29534209 29540078 + 29426230 29432099 + 1580863;6480464 15489334;14983052;14574404;12637542;12477932;22610502;17207965;19851445;20466734;21044950 26716 Q9GZK4 ABBA01038032;AC004178;AF042073;AF042074;AF042078;AF044491;AF044492;AF044493;AJ302604;AJ302605;AJ302606;AJ302607;AJ302608;AJ302609;AJ302610;AJ302611;AJ302612;AJ302613;AJ459836;AJ459844;AJ459845;AJ459846;AJ459847;AJ459849;AJ459850;AL035542;AL645927;AL662869;AMYH01016195;BC036097;BC048991;BK004209;BX000531;BX247947;BX927133;CH471081;CR388393;CR759768;CR759956;NM_030883 AAB97429;AAB97430;AAC00184;AAC00188;AAC00189;AAH48991;ADQ32472;CAB44506;CAC20524;CAC20525;CAC20526;CAC20527;CAC20528;CAC20529;CAC20530;CAC20531;CAC20532;CAC20533;CAD31037;CAD31038;CAD31039;DAA04607;EAX03195;EAX03196;NP_112145;Q9GZK4 Hs.434715;Hs.714219;Hs.740793 6M1-16;HS6M1-16;OLFR42A-9004-14;OR2H6;OR2H8;OR6-2;dJ994E9.4 OLFR42A-9004.14/9026.2;OTTHUMP00000029056;OTTHUMP00000108529;OTTHUMP00000108872;olfactory receptor 2H1;olfactory receptor 2H6;olfactory receptor 2H8;olfactory receptor 6-2;olfactory receptor OR6-32;olfactory receptor, family 2, subfamily H, member 6;olfactory receptor, family 2, subfamily H, member 8 APPROVED protein-coding ENSG00000204688 8252 17699 PROVISIONAL 1351011 OR2L9P olfactory receptor, family 2, subfamily L, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221423450 221424383 + 246204567 246205700 + 248138045 248138978 + 81462 ABBA01031794;AC099570;AMYH01001923;NG_004273 APPROVED pseudo 15015 INFERRED 1351985 OR2M1P olfactory receptor, family 2, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221570933 221571577 + 246352061 246352705 + 248285438 248286082 + 6480464 12213199;11705801 388762 ABBA01031796;AF308814;AF399615;AL592313;AMYH01001924;NR_002141 AAK95100 Hs.528509 JCG10;OR2M1;OST037 APPROVED pseudo 8267 PROVISIONAL 1351720 OR2M2 olfactory receptor, family 2, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221628778 221629821 + 246409911 246410954 + 248343288 248344331 + 1580863 16710414;12213199 391194 Q96R28 ABBA01031798;AF399616;AL592313;AMYH01001925;CH471148;NM_001004688 AAK95101;EAW77217;NP_001004688;Q96R28 Hs.534728 OR2M2Q;OST423 OTTHUMP00000038277;olfactory receptor 2M2 APPROVED protein-coding ENSG00000198601 8268 17703 PROVISIONAL 1348875 OR2H2 olfactory receptor, family 2, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31161772 31162834 + 29663662 29664724 + 29555683 29556745 + 6480464 7665158;17971048;15489334;14983052;14574404;12637542;12477932;12213199;11282967;10880742;8662070;19833159;19851445 7932 O95918 AB065965;ABBA01038033;AF211939;AF211940;AF211941;AF211942;AF399631;AJ459831;AJ459832;AJ459839;AL031983;AL645936;AL662826;AMYH01016195;BC069146;BC101683;BC112176;BK004225;BX000688;BX927223;CH471081;CR759766;CR759870;CR788300;L35475;NM_007160 AAB36567;AAF98751;AAF98752;AAF98753;AAF98754;AAH69146;AAI01684;AAI12177;AAK95116;ABZ92454;BAC06177;CAA21455;DAA04623;EAX03204;NP_009091;O95918 Hs.529493;Hs.697691 5493291 UniSTS:485614 FAT11;MGC126732;MGC138381;OLFR2;OLFR42B;OR2H3;dJ271M21.2;hs6M1-12 OTTHUMP00000029058;Olfactory receptor 2;olfactory receptor 2H2;olfactory receptor 2H3;olfactory receptor OR6-36;olfactory receptor, family 2, subfamily H, member 3;olfactory receptor-like protein FAT11 APPROVED protein-coding ENSG00000204657 8253 08367 600578 PROVISIONAL 1347987 OR2M4 olfactory receptor, family 2, subfamily M, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221686811 221687746 + 246468854 246469789 + 248402231 248403166 + 633349;6480464 9119360 16710414;14983052;12213199;1370859 26245 Q96R27 AB065953;ABBA01031798;AF399617;AL450303;AMYH01001926;BK004483;CH471148;CS248606;NM_017504;X64992;X89666 AAI41462;AAI48719;AAK95102;BAC06166;CAA61813;CAJ56819;DAA04881;EAW77219;NP_059974;Q96R27 Hs.381309 2219302;5493171 OR2M4__6005;UniSTS:484586 HSHTPCRX18;HTPCRX18;OR1-55;OST710;TPCR100 OTTHUMP00000038273;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2M4;olfactory receptor OR1-55;olfactory receptor TPCR100 APPROVED protein-coding ENSG00000171180 8270 14946 PROVISIONAL 1342486 OR2K2 olfactory receptor, family 2, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q31.3 84588883 84589833 - 113129584 113130534 - 114089763 114090713 - 1580863;6480464 17010214;15489334;15164053;14983052;12477932;1370859 26248 Q8NGT1 AB065707;ABBA01042734;AL354661;AMYH01021641;BC111086;BK004277;CH471105;NM_205859;X64977 AAI11087;BAC05929;DAA04675;EAW59071;NP_995581;Q8NGT1 Hs.381312 2219300;5493529 OR2K2__6001;UniSTS:487063 HSHTPCRH06;HTPCRH06;MGC133152;OR2AN1P;OR2AR1P OTTHUMP00000021907;olfactory receptor 2K2;olfactory receptor OR9-17;olfactory receptor, family 2, subfamily AN, member 1 pseudogene;olfactory receptor, family 2, subfamily AR, member 1 pseudogene APPROVED protein-coding ENSG00000171133 8264 17701 PROVISIONAL 1351101 OR2M5 olfactory receptor, family 2, subfamily M, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221593941 221594879 + 246375073 246376011 + 248308450 248309388 + 14983052 127059 A3KFT3 ABBA01031797;AL592313;AMYH01001924;CH471148;NM_001004690 A3KFT3;EAW77216;NP_001004690 Hs.553580 OR2M5P OTTHUMP00000038266;olfactory receptor 2M5;olfactory receptor, family 2, subfamily M, member 5 pseudogene APPROVED protein-coding ENSG00000162727 19576 14947 PROVISIONAL 1343159 OR2N1P olfactory receptor, family 2, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.31 30711652 30712798 - 29213526 29214672 - 29105547 29106693 - 1580863;6480464 14983052 26701 O95499 ABBA01038030;AJ132194;AL645937;AL662852;AL929561;AMYH01016195;BK004435;BX248093;BX927132;CR388415;CR759834;CR774181;NG_002216 CAA10602;DAA04833 HS6M1-2;OLFR89;OR6-7 APPROVED pseudo 8271 INFERRED 1344769 OR2P1P olfactory receptor, family 2, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30645719 30646453 - 29147488 29148422 - 29039609 29040343 - 442183 ABBA01038029;AL662791;AL662852;AL929561;AMYH01016195;BX248413;CR388407;CR547123;CR933783;NG_004693 1757007 SHGC-144365 hs6M1-26 APPROVED pseudo 8272 INFERRED 1347355 OR2L2 olfactory receptor, family 2, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221486878 221488011 + 246268097 246269230 + 248201474 248202607 + 1580863;6480464 15489334;14983052;12477932;1370859 26246 Q8NH16 AB065597;ABBA01031794;AC099570;AMYH01001923;BC104792;BC104794;BK004752;CH471148;NM_001004686;X64978 AAI04793;AAI04795;BAC05825;EAW77214;NP_001004686;Q8NH16 Hs.684888 5493383 UniSTS:485894 HSHTPCRH07;HTPCRH07;OR1-48;OR2L12;OR2L4P OTTHUMP00000038063;olfactory receptor 2L12;olfactory receptor 2L2;olfactory receptor 2L4;olfactory receptor OR1-48 pseudogene;olfactory receptor, family 2, subfamily L, member 12;olfactory receptor, family 2, subfamily L, member 4 pseudogene APPROVED protein-coding ENSG00000203663 8266 14942 PROVISIONAL 1345416 OR2L3 olfactory receptor, family 2, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221509389 221510327 + 246290607 246291545 + 248223984 248224922 + 1580863;6480464 12477932 391192 Q8NG85 AB065950;ABBA01031794;AC099570;AMYH01001923;BC137039;BC137040;CH471148;NM_001004687 AAI37040;AAI37041;BAC06163;EAW77215;NP_001004687;Q8NG85 Hs.690412 2106559 OR2L3__6003 OTTHUMP00000038049;olfactory receptor 2L3 APPROVED protein-coding ENSG00000198128 15009 14943 PROVISIONAL 1349463 OR2R1P olfactory receptor, family 2, subfamily R, member 1, pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138022587 138023936 - 142895477 142896826 - 143185555 143186502 - 12213199 392132 AACC02000107;AB065481;ABBA01034137;AC073264;AF399457;AMYH01018008;CH236959;NG_004373 OR2R1;OST058 APPROVED pseudo 8274 INFERRED 1352301 OR2S1P olfactory receptor, family 2, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35946730 35947676 + 36003081 36004227 + 36013182 36014128 + 12906860 392313 ABBA01050437;AL138834;AMYH01019348;NG_004379 OR37D;OST611 APPROVED pseudo 8275 INFERRED 1348735 OR2L13 olfactory receptor, family 2, subfamily L, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221386063 221549651 + 246167116 246330847 + 248100493 248264224 + 1580863;6480464 16710414;15489334;12477932;20379614;17207965;19945174 284521 Q8N349 ABBA01031794;ABBA01031795;AC099570;AC099571;AL513488;AMYH01001922;AMYH01001923;AMYH01001924;BC028158;CH471148;NM_175911 AAH28158;ADQ32478;EAW77210;NP_787107;Q8N349 Hs.372936 1335946;2106559;2148794 AL009388;D1S2682;OR2L3__6003 MGC40047;OR2L14 OTTHUMP00000038265;olfactory receptor 2L13;olfactory receptor 2L14;olfactory receptor, family 2, subfamily L, member 14 APPROVED protein-coding ENSG00000196071 19578 17702 PROVISIONAL 1604950 OR2Q1P olfactory receptor, family 2, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138311176 138312303 + 143308831 143309958 + 143677898 143679025 + 12213199;9847074 346524 AACC02000107;ABBA01000975;AC004853;AF399458;AMYH01018073;CH236959;NG_004310 OR7-2 APPROVED pseudo 8273 INFERRED 1353113 OR2T1 olfactory receptor, family 2, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221855733 221856842 + 246635919 246637028 + 248569296 248570405 + 1580863 14983052;12213199;9500546 26696 O43869 ABBA01031801;AC138089;AF399613;AMYH01001926;BK004463;CH471148;NM_030904;U86215 AAC39611;AAI48404;AAK95098;DAA04861;EAW77226;NP_112166;O43869 Hs.626885 2128894;2219304 AL009434;OR2T1__6008 OR1-25 OTTHUMP00000038268;olfactory receptor 1-25;olfactory receptor 2T1;olfactory receptor OR1-61 APPROVED protein-coding ENSG00000175143 8277 14949 PROVISIONAL 1350170 OR2T12 olfactory receptor, family 2, subfamily T, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221742492 221743454 - 246524541 246525503 - 248457918 248458880 - 1580863 16710414;14983052 127064 Q8NG77 AB065960;ABBA01031798;AL450303;AMYH01001926;BK004485;CH471148;CS248610;NM_001004692 BAC06172;CAJ56821;DAA04883;EAW77221;NP_001004692;Q8NG77 Hs.553582 OR1-57 OTTHUMP00000038274;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2T12;olfactory receptor OR1-57 APPROVED protein-coding ENSG00000177201 19592 14951 PROVISIONAL 1343135 OR2M3 olfactory receptor, family 2, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221651007 221651945 + 246432993 246433931 + 248366370 248367308 + 1580863 16710414;14983052;12477932;12213199 127062 Q8NG83 AB065952;ABBA01031798;AF399483;AL450303;AMYH01001925;BC136970;BC136971;BK004482;CH471148;CS248608;NM_001004689 AAI36971;AAI36972;BAC06165;CAJ56820;DAA04880;EAW77218;NP_001004689;Q8NG83 Hs.553581 OR1-54;OR2M3P;OR2M6;OST003 OTTHUMP00000038276;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2M3;olfactory receptor 2M6;olfactory receptor OR1-54;olfactory receptor, family 2, subfamily M, member 3 pseudogene;olfactory receptor, family 2, subfamily M, member 6 APPROVED protein-coding ENSG00000228198 8269 14945 PROVISIONAL 1350912 OR2T27 olfactory receptor, family 2, subfamily T, member 27 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 q44 246879855 246880808 - 248813232 248814185 - 1580863 14983052 403239 Q8NH04 AB065611;ABBA01023059;AC098483;AMYH01001945;AMYH01001946;BK004474;NM_001001824 BAC05838;DAA04872;NP_001001824;Q8NH04 Hs.553814 OTTHUMP00000038174;olfactory receptor 2T27;olfactory receptor OR1-67 APPROVED protein-coding ENSG00000187701 31252 14952 PROVISIONAL 1349762 OR2L8 olfactory receptor, family 2, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221397730 221398668 + 246178783 246179721 + 248112160 248113098 + 1580863 14983052;12477932 391190 Q8NGY9 AB065627;ABBA01031794;AC099571;AMYH01001922;BC140751;BK004459;CH471148;NM_001001963 AAI40752;BAC05853;DAA04857;EAW77211;NP_001001963;Q8NGY9 Hs.690212 OTTHUMP00000038050;olfactory receptor 2L8;olfactory receptor OR1-46 APPROVED protein-coding ENSG00000196936 15014 14944 PROVISIONAL 1342637 OR2T29 olfactory receptor, family 2, subfamily T, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 q44 246788468 246789397 - 248721845 248722792 - 1580863;6480464 343563 Q8NH02 AB065613;ABBA01031805;AC098483;AMYH01001941;NM_001004694 BAC05840;NP_001004694;Q8NH02 Hs.553707 OTTHUMP00000038177;olfactory receptor 2T29 APPROVED protein-coding ENSG00000182783 31253 17707 PROVISIONAL 1349717 OR2T32P olfactory receptor, family 2, subfamily T, member 32 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221532338 221533298 - 246313461 246314621 - 248246935 248247898 - 403241 ABBA01031795;AL513488;AMYH01001923;NG_004411 APPROVED pseudo 31254 INFERRED 1352477 OR2M7 olfactory receptor, family 2, subfamily M, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221771448 221772386 - 246553555 246554493 - 248486932 248487870 - 1580863;6480464 16710414;14983052;12477932;20585627 391196 Q8NG81 AB065954;ABBA01031799;AL450303;AMYH01001926;BC136944;BC136946;BK004486;CH471148;CS248612;NM_001004691 AAI36945;AAI36947;BAC06167;CAJ56822;DAA04884;EAW77222;NP_001004691;Q8NG81 Hs.530570 OR1-58 OTTHUMP00000038278;olfactory receptor 2M7;olfactory receptor OR1-58 APPROVED protein-coding ENSG00000177186 19594 14948 PROVISIONAL 1353621 OR2T10 olfactory receptor, family 2, subfamily T, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222055264 222056202 - 246822754 246823692 - 248756131 248757069 - 1580863 14983052;12477932 127069 Q8NGZ9 AB065616;ABBA01023056;AC098483;AMYH01001941;BC136937;BC136940;BK004478;CH471257;NM_001004693 AAI36938;AAI36941;BAC05843;DAA04876;EAW57528;NP_001004693;Q8NGZ9 Hs.553585 OR1-64 OTTHUMP00000038180;olfactory receptor 2T10;olfactory receptor OR1-64 APPROVED protein-coding ENSG00000184022 19573 14950 PROVISIONAL 1349543 OR2T11 olfactory receptor, family 2, subfamily T, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222088603 222089553 - 246856102 246857052 - 248789479 248790429 - 1580863 12477932;14983052 127077 Q8NH01 AB065614;ABBA01023056;AC098483;AMYH01001941;BC140749;BK004476;CH471257;NM_001001964 AAI40750;BAC05841;DAA04874;EAW57529;NP_001001964;Q8NH01 Hs.626619 OR2T11Q OTTHUMP00000038178;olfactory receptor 2T11;olfactory receptor OR1-65 APPROVED protein-coding ENSG00000183130 19574 17705 PROVISIONAL 1354420 OR2T35 olfactory receptor, family 2, subfamily T, member 35 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221898855 221899829 + 246868211 246869182 - 248801588 248802559 - 1580863 21145461;14983052 403244 Q8NGX2 AB065644;ABBA01023057;AC098483;AMYH01001942;BK004475;NM_001001827 AAI56816;BAC05870;DAA04873;NP_001001827;Q8NGX2 Hs.534846 OTTHUMP00000038176;olfactory receptor 2T35;olfactory receptor OR1-66 APPROVED protein-coding ENSG00000177151 31257 17709 PROVISIONAL 1351833 OR2T4 olfactory receptor, family 2, subfamily T, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221809401 221810446 + 246591506 246592552 + 248524883 248525929 + 1580863;6480464 14983052 127074 Q8NH00 AB065615;ABBA01031799;AC138089;AMYH01001926;BK004464;CH471148;NM_001004696 BAC05842;DAA04862;EAW77224;NP_001004696;Q8NH00 Hs.553586 OR1-60;OR2T4Q OTTHUMP00000038271;olfactory receptor 2T4;olfactory receptor OR1-60 APPROVED protein-coding ENSG00000196944 15016 14955 PROVISIONAL 1343167 OR2T6 olfactory receptor, family 2, subfamily T, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221835150 221836076 + 246617533 246618459 + 248550910 248551836 + 6480464 12213199 254879 Q8NHC8 AB065438;ABBA01031801;AC138089;AF399481;AMYH01001926;CH471148;NM_001005471 BAC05705;EAW77225;NP_001005471;Q8NHC8 Hs.626884 OR2T6P;OR2T9;OST703 OTTHUMP00000038267;olfactory receptor 2T6;olfactory receptor 2T9;olfactory receptor, family 2, subfamily T, member 6 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000198104 15018 17711 PROVISIONAL 1347656 OR2T7 olfactory receptor, family 2, subfamily T, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 q44 246671031 246672154 + 248604483 248605434 + 16710414;14983052;12213199 81458 P0C7T2 ABBA01031801;AC138089;AMYH01001926;NG_004272 P0C7T2 OR2T7P;OST723 APPROVED pseudo 15019 INFERRED 1351258 OR2T8 olfactory receptor, family 2, subfamily T, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221369888 221370826 + 246150943 246151881 + 248084320 248085258 + 6480464 12213199 343172 A6NH00 ABBA01031794;AC099570;AC099571;AF399488;AMYH01001922;CH471148;NM_001005522 A6NH00;EAW77208;NP_001005522 Hs.521114 OR2T8P OTTHUMP00000038056;olfactory receptor 2T8;olfactory receptor, family 2, subfamily T, member 8 pseudogene APPROVED protein-coding ENSG00000177462 15020 17712 VALIDATED 1348617 OR2U1P olfactory receptor, family 2, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.32 30836582 30838002 - 29338459 29339835 - 29230436 29231856 - 14983052 26695 Q8NGU7 AB065682;ABBA01038030;AL050339;AL662857;AL672167;AMYH01016195;BK004667;BX005432;BX908738;CR753509;NG_004625 BAC05905 OR2AU1P;hs6M1-24 APPROVED pseudo 8278 INFERRED 1350632 OR2U2P olfactory receptor, family 2, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.2-p21.32 30842388 30843344 - 29344221 29345177 - 29236242 29237198 - 14983052 26694 ABBA01038030;AL662857;AL672167;AMYH01016195;BK004666;BX005432;BX908738;CR753509;CR936918;NG_004687 OR6-24;hs6M1-23 APPROVED pseudo 8279 INFERRED 1605397 OR2V1 olfactory receptor, family 2, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 176178241 176179185 - 180483866 180485010 - 180551357 180552304 - 6480464 26693 Q8NHB1 AB065465;ABBA01010093;AC008620;AMYH01015977;NM_001258283 BAC05724;NP_001245212;Q8NHB1 Hs.742585 OR2V1P;OST265 olfactory receptor 2V1;olfactory receptor, family 2, subfamily V, member 1 pseudogene APPROVED protein-coding ENSG00000185372 8280 VALIDATED 1342510 OR2V2 olfactory receptor, family 2, subfamily V, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 176209206 176210153 + 180514549 180515496 + 180581943 180582890 + 6480464 14983052;12213199 285659 Q96R30 AB065675;ABBA01010093;AC008620;AF399614;AMYH01015977;BK004246;CH471165;CS248284;NM_206880 AAK95099;BAC05900;CAJ56665;DAA04644;EAW53721;NP_996763;Q96R30 Hs.553681 2106561 OR2V2__6017 OR2V3;OST713 OTTHUMP00000161541;olfactory receptor 2V2;olfactory receptor 2V3;olfactory receptor OR5-3;olfactory receptor, family 2, subfamily V, member 3 APPROVED protein-coding ENSG00000182613 15341 14956 PROVISIONAL 1349827 OR2T3 olfactory receptor, family 2, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222036233 222037189 - 246703275 246704231 + 248636652 248637608 + 16710414;12477932 343173 Q8NH03 AB065612;ABBA01031801;AC138089;AMYH01001926;BC136915;BC136916;NM_001005495 AAI36916;AAI36917;BAC05839;NP_001005495;Q8NH03 Hs.554481 OTTHUMP00000038270;olfactory receptor 2T3;seven transmembrane helix receptor APPROVED protein-coding ENSG00000196539 14727 17708 PROVISIONAL 1346182 OR2S2 olfactory receptor, family 2, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 35890670 35891716 - 35947136 35948065 - 35957105 35958151 - 1580863;6480464 10452948;15489334;15164053;14983052;12906860;12477932;12213199;20677014 56656 Q9NQN1 ABBA01023129;AF399601;AL135841;AMYH01019347;BC104869;BC113651;BK004443;CH471071;NM_019897 AAI04870;AAI13652;AAK95086;ADR82938;DAA04841;EAW58320;NP_063950;Q9NQN1 Hs.553540 5492947;5493985 UniSTS:480652;UniSTS:483334 OR37A;OST715 OTTHUMP00000021364;olfactory receptor 2S2;olfactory receptor OR9-3 APPROVED protein-coding ENSG00000122718 8276 17704 PROVISIONAL 1351010 OR2W2P olfactory receptor, family 2, subfamily W, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29607733 29608680 + 28109571 28110718 + 28001693 28002640 + 81694 ABBA01038012;AL121944;AMYH01016189;NG_004279 hs6M1-30P APPROVED pseudo 13970 INFERRED 1343741 OR2W4P olfactory receptor, family 2, subfamily W, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29550969 29551891 + 28052807 28053929 + 27944929 27945851 + 81407 ABBA01038012;AL133267;AMYH01016189;NG_004261 APPROVED pseudo 15071 INFERRED 1343251 OR2T33 olfactory receptor, family 2, subfamily T, member 33 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221720730 221721692 - 246502777 246503739 - 248436154 248437116 - 1580863;6480464 16710414;14983052;12477932 391195 Q8NG76 AB065961;ABBA01031798;AL450303;AMYH01001926;BC136994;BC136995;BK004484;CH471148;CS248614;NM_001004695 AAI36995;AAI36996;BAC06173;CAJ56823;DAA04882;EAW77220;NP_001004695;Q8NG76 Hs.553783 OR1-56 OTTHUMP00000038275;novel 7 transmembrane receptor (rhodopsin family) protein;olfactory receptor 2T33;olfactory receptor OR1-56 APPROVED protein-coding ENSG00000177212 31255 14953 PROVISIONAL 1346426 OR2T2 olfactory receptor, family 2, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 222100387 222101452 - 246682722 246683696 + 248616099 248617073 + 16710414;14983052;12213199;12477932 401992 Q6IF00 ABBA01031801;AC138089;AF399479;AMYH01001926;BC136961;BC136962;BK004462;CS248406;NM_001004136 AAI36962;AAI36963;CAJ56723;DAA04860;NP_001004136;Q6IF00 Hs.554482 1692776 AL034155 OR1-43;OR2T2P OTTHUMP00000038302;olfactory receptor 2T2;olfactory receptor OR1-43;olfactory receptor, family 2, subfamily T, member 2 pseudogene APPROVED protein-coding ENSG00000196240 14725 17706 PROVISIONAL 1347514 OR2X1P olfactory receptor, family 2, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221387944 221388688 + 246168896 246169840 + 248102374 248103118 + 403245 ABBA01031794;AC099571;AMYH01001922;NG_004412 APPROVED pseudo 31258 INFERRED 1349332 OR2W6P olfactory receptor, family 2, subfamily W, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 29511218 29512215 + 28013060 28014257 + 27905182 27906179 + 81406 Q8NHA6 AB065475;ABBA01038012;AL133267;AMYH01016189;CH471081;NG_004260 BAC05729;EAX03126;Q8NHA6 1662633;2189665 AL021850;D6S2224 OR2W7P APPROVED pseudo 15072 INFERRED 1351819 OR2T5 olfactory receptor, family 2, subfamily T, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221934011 221934958 + 246718513 246719460 + 248651890 248652837 + 6480464 16710414;14983052;12477932 401993 Q6IEZ7 ABBA01031803;AC138089;AMYH01001928;BC140747;BC140915;BK004465;CS248408;NM_001004697 AAI40748;AAI40916;CAJ56724;DAA04863;NP_001004697;Q6IEZ7 Hs.553808 OR1-62 OTTHUMP00000038303;olfactory receptor 2T5;olfactory receptor OR1-62 APPROVED protein-coding ENSG00000203661 15017 17710 PROVISIONAL 1345089 OR2T34 olfactory receptor, family 2, subfamily T, member 34 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221919371 221920327 + 246803725 246804681 - 248737102 248738058 - 1580863 16710414;14983052;12213199;12477932 127068 Q8NGX1 AB065645;ABBA01023056;AC098483;AF399612;AMYH01001941;BC136924;BC136926;BK004477;NM_001001821 AAI36925;AAI36927;AAK95097;BAC05871;DAA04875;NP_001001821;Q8NGX1 Hs.553584 OTTHUMP00000038179;olfactory receptor 2T34;olfactory receptor OR1-63 APPROVED protein-coding ENSG00000183310 31256 14954 PROVISIONAL 1343372 OR2W3 olfactory receptor, family 2, subfamily W, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221344454 221345398 + 246125512 246126456 + 248058889 248059833 + 1580863;6480464 14983052;12213199;8889549;12477932 343171 Q7Z3T1 AB065949;ABBA01031794;AC099571;AF399491;AMYH01001922;BC146848;BK004456;CH471148;NM_001001957 AAI46849;ACE86601;ACE87282;BAC06162;DAA04854;EAW77207;NP_001001957;Q7Z3T1 Hs.269151;Hs.744709 OR2W3P;OR2W8P;OST718 OTTHUMP00000038055;olfactory receptor 2W3;olfactory receptor 2W8;olfactory receptor OR1-49;olfactory receptor, family 2, subfamily W, member 3 pseudogene;olfactory receptor, family 2, subfamily W, member 8 pseudogene APPROVED protein-coding ENSG00000238243 15021 17714 PROVISIONAL 1606719 OR2Y1 olfactory receptor, family 2, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 175790024 175790959 - 180098729 180099664 - 180166123 180167058 - 6480464 14983052;12213199;12477932 134083 Q8NGV0 AB065676;ABBA01010081;AC023255;AC113427;AF399629;AMYH01015972;BC140756;BK004351;CH471165;NM_001001657 AAI40757;AAK95114;BAC05901;DAA04749;EAW53748;NP_001001657;Q8NGV0 Hs.554719 2219308 OR2Y1__6019 OR5-2 OTTHUMP00000221656;olfactory receptor 2Y1;olfactory receptor OR5-2 APPROVED protein-coding ENSG00000174339 14837 17716 PROVISIONAL 1351652 OR2W5 olfactory receptor, family 2, subfamily W, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene has a coding sequence that is comparable in length to other olfactory receptor genes, but it should be noted that a frameshift is present in the 3' coding region that disrupts the 7-transmembrane domain structure in the protein. It is unclear if the protein can function as an olfactory receptor or if an alternate function is served. For this reason, this gene has also been interpreted to be a pseudogene. [provided by RefSeq, Jan 2010] 1 1 1 q44 220953148 220954489 + 245721053 245722015 + 247654370 247655711 + 6480464 16710414;15489334;12213199;12477932 441932 A6NFC9 AA568210;ABBA01031788;AF399492;AL606804;AMYH01001912;BC137203;BC137204;NM_001004698 A6NFC9;AAI37204;AAI37205;NP_001004698 Hs.591526 OR2W5P;OST722 olfactory receptor 2W5;olfactory receptor, family 2, subfamily W, member 5 pseudogene;putative olfactory receptor 2W5 APPROVED protein-coding 15424 17715 VALIDATED 5684450 OR3A5P olfactory receptor, family 3, subfamily A, member 5 pseudogene 17 p13.3 3214494 3215186 + 8921386 100856809 ABBA01054735;AC087498;AMYH01008029;NG_031881 OLFRA06;OR17-25;OR25 pseudo 8286 INFERRED 1348465 OR2W1 olfactory receptor, family 2, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30618100 30619062 - 29119969 29120951 - 29011990 29012952 - 1580863;6480464 15489334;14983052;14574404;12477932;12213199;19851445;21832049 26692 Q9Y3N9 ABBA01038029;AF399628;AJ302594;AJ302595;AJ302596;AJ302597;AJ302598;AJ302599;AJ302600;AJ302601;AJ302602;AJ302603;AL035402;AL662791;AL662865;AL929561;AMYH01016195;BC103870;BC103871;BC103872;BK004522;BX248413;BX927167;CH471081;CR759835;CR759957;CR936923;NM_030903 AAI03871;AAI03872;AAI03873;AAK95113;CAB42853;CAC20514;CAC20515;CAC20516;CAC20517;CAC20518;CAC20519;CAC20520;CAC20521;CAC20522;CAC20523;DAA04920;EAX03179;EAX03180;EAX03181;NP_112165;Q9Y3N9 Hs.553526 2219306;5493047 OR2W1__6018;UniSTS:484051 MGC119162;MGC119163;MGC119165;hs6M1-15 OTTHUMP00000029054;olfactory receptor 2W1;olfactory receptor OR6-13 APPROVED protein-coding ENSG00000204704 8281 17713 VALIDATED 1604133 OR3D1P olfactory receptor, family 3, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221128988 221129923 + 245896706 245897841 + 247830184 247831119 + 504175 ABBA01031788;AL390860;AMYH01001914;NG_004862 APPROVED pseudo 25339 INFERRED 1352129 OR3B1P olfactory receptor, family 3, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q28 154045088 154046016 - 153540101 153541229 - 153887007 153887935 - 11709543;11410370 392561 ABBA01029067;AC244107;AF277315;AMYH01023318;NG_004382 1813382;1820276;1823420;2038282;2038284;2038286;2038288;2038290;2038292;2038294;2038296;2038298;2038300;2038302;2038304;2038306;2038308;2102784;2102786 ECD07712;ECD11212;ECD12801;REN90160;REN90161;REN90162;REN90163;REN90164;REN90165;REN90166;REN90167;REN90168;REN90169;REN90170;REN90171;REN90172;REN90173;stSG604218;stSG604219 APPROVED pseudo 14839 INFERRED 1347633 OR4A10P olfactory receptor, family 4, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52542837 52543247 + 54955909 54956519 + 55199434 55199844 + 390138 ABBA01021457;AMYH01003640;AP005639;NG_004334 OR4A25P APPROVED pseudo 15147 INFERRED 1606645 OR4A11P olfactory receptor, family 4, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52429484 52430401 + 54842512 54843629 + 55086037 55086954 + 390136 ABBA01021456;AMYH01003640;AP005639;NG_004332 APPROVED pseudo 15148 INFERRED 1343682 OR4A12P olfactory receptor, family 4, subfamily A, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52436680 52437624 + 54849708 54850852 + 55093233 55094177 + 81331 ABBA01021456;AMYH01003640;AP005639;NG_004243 APPROVED pseudo 15149 INFERRED 1343479 OR4A14P olfactory receptor, family 4, subfamily A, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52588420 52589378 + 55001503 55002661 + 55245028 55245986 + 81329 ABBA01021457;AMYH01003641;AP005639;NG_004241 APPROVED pseudo 15151 INFERRED 1349174 OR4A13P olfactory receptor, family 4, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52577638 52578579 + 54990723 54991864 + 55234248 55235189 + 81330 Q8NH17 AB065596;ABBA01021457;AMYH01003641;AP005639;NG_004242 BAC05824 1760931 SHGC-144845 APPROVED pseudo 15150 INFERRED 1348504 OR4A15 olfactory receptor, family 4, subfamily A, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52478730 52479764 + 54891936 54892970 + 55135360 55136394 + 1580863;6480464 14983052;12213199;21408207 81328 Q8NGL6 AB065776;ABBA01021457;AF399578;AMYH01003640;AP005639;BK004248;CH471076;NM_001005275 AAK95063;BAC05996;DAA04646;EAW73673;NP_001005275;Q8NGL6 Hs.554529 OR11-118 OTTHUMP00000234034;olfactory receptor 4A15;olfactory receptor OR11-118 APPROVED protein-coding ENSG00000181958 15152 14958 PROVISIONAL 1348174 OR4A17P olfactory receptor, family 4, subfamily A, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52555305 52556208 + 54968387 54969490 + 55211912 55212815 + 390139 ABBA01021457;AMYH01003640;AP005639;NG_004335 OR4A22P APPROVED pseudo 15154 INFERRED 1348979 OR4A18P olfactory receptor, family 4, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50090245 50091332 - 49895518 49896605 - 49938942 49940029 - 81325 ABBA01060662;AC110057;AMYH01003580;AP006587;NG_004240 APPROVED pseudo 15155 INFERRED 1347184 OR4A19P olfactory receptor, family 4, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50093166 50094268 - 49898439 49899541 - 49941863 49942965 - 81324 ABBA01060662;AC110057;AMYH01003580;AP006587;NG_004239 APPROVED pseudo 15156 INFERRED 1352559 OR4A1P olfactory receptor, family 4, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50071132 50072037 - 49876409 49877314 - 49919833 49920738 - 9787077 8596 ABBA01060664;AF065869;AMYH01003579;AP006587;NG_002173;U73642 OR11-30;OR4A20P APPROVED pseudo 8289 INFERRED 1342703 OR4A21P olfactory receptor, family 4, subfamily A, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52602025 52603014 + 55015108 55016297 + 55258633 55259622 + 81322 ABBA01021457;AMYH01003641;AP001998;NG_004238 APPROVED pseudo 15158 INFERRED 1352952 OR4A2P olfactory receptor, family 4, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.12 51307545 51308657 - 51451069 51451981 - 390133 ABBA01021445;AC126345;AMYH01003603;NG_004330 APPROVED pseudo 15159 INFERRED 1343490 OR4A3P olfactory receptor, family 4, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51773783 51774653 + 51312305 51313375 - 51455829 51456699 - 81320 ABBA01021445;AC126345;AMYH01003603;NG_004237 APPROVED pseudo 15160 INFERRED 1351538 OR4A40P olfactory receptor, family 4, subfamily A, member 40 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48684029 48684972 + 48490348 48491491 + 48533873 48534816 + 390116 ABBA01060678;AC134982;AMYH01003557;NG_004327 APPROVED pseudo 31259 INFERRED 1353965 OR4A41P olfactory receptor, family 4, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48757741 48758683 + 48567767 48568918 + 48611292 48612243 + 403247 ABBA01060677;AC134982;AMYH01003557;NG_004413 APPROVED pseudo 31260 INFERRED 1351624 OR4A42P olfactory receptor, family 4, subfamily A, member 42 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48778094 48779027 + 48588091 48589224 + 48631616 48632549 + 403248 ABBA01060677;AC134982;AMYH01003557;NG_004414 APPROVED pseudo 31261 INFERRED 1347587 OR2Z1 olfactory receptor, family 2, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8660485 8661429 + 8702391 8703335 + 8841391 8842335 + 1580863;6480464 18391951;14983052;12213199;12477932 284383 Q8NG97 AB065930;ABBA01016837;AC012616;AC243312;AF399619;AMYH01009446;BC137046;BC151149;BK004262;CH471139;CS248148;NM_001004699 AAI37047;AAI51150;AAK95104;BAC06145;CAJ56601;DAA04660;EAW68902;NP_001004699;Q8NG97 Hs.553675 OR19-4;OR2Z2 olfactory receptor 2Z1;olfactory receptor 2Z2;olfactory receptor OR19-4;olfactory receptor, family 2, subfamily Z, member 2 APPROVED protein-coding ENSG00000181733 15391 17717 PROVISIONAL 1353670 OR4A43P olfactory receptor, family 4, subfamily A, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48697773 48698683 + 48504092 48505202 + 48547617 48548527 + 390117 ABBA01060678;AC134982;AMYH01003557;NG_004328 1737967 D11S3572 APPROVED pseudo 31262 INFERRED 1342603 OR4A44P olfactory receptor, family 4, subfamily A, member 44 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48795370 48796350 + 48605508 48606688 + 48649033 48650013 + 403250 ABBA01060677;AC134982;AMYH01003557;NG_004415 APPROVED pseudo 31263 INFERRED 1353185 OR4A45P olfactory receptor, family 4, subfamily A, member 45 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.2 48557464 48558579 + 48600989 48601904 + 403251 ABBA01060677;AC134982;NG_004416 APPROVED pseudo 31264 INFERRED 1352595 OR4A46P olfactory receptor, family 4, subfamily A, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48668042 48668982 + 48474346 48475486 + 48517871 48518811 + 403252 ABBA01060679;AC134982;AMYH01003557;NG_004417 APPROVED pseudo 31265 INFERRED 1348461 OR4A48P olfactory receptor, family 4, subfamily A, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48663444 48664217 + 48469749 48470722 + 48513274 48514047 + 403254 ABBA01060679;AC134982;AMYH01003557;NG_004418 APPROVED pseudo 31267 INFERRED 1350655 OR3A2 olfactory receptor, family 3, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3194908 3195992 - 3127934 3129018 - 3181184 3182268 - 1580863;6480464 8921386;14983052;12477932;10673334;9500546;8004088 4995 O43879;P47893 ABBA01054735;AC087498;AF087930;AMYH01008028;BC095517;BK004239;CH471108;NM_002551;U04713;U86244 AAA17448;AAC39624;AAF37318;AAH95517;DAA04637;EAW90516;NP_002542;P47893 Hs.647414 2107465 OR3A2__7150 OLFRA04;OR17-14;OR17-228;OR228 olfactory receptor 17-228;olfactory receptor 3A2;olfactory receptor OR17-14 APPROVED protein-coding ENSG00000221882 8283 10132 VALIDATED 1354456 OR4A49P olfactory receptor, family 4, subfamily A, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.12 49893140 49893771 - 49936564 49937195 - 403255 ABBA01060662;AC110057;AMYH01003580;AP006587;NG_004419 APPROVED pseudo 31268 INFERRED 1342615 OR4A4P olfactory receptor, family 4, subfamily A, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51770869 51771798 + 51315163 51316289 - 51458684 51459613 - 14983052;12213199 390134 Q8NGN8 AB065752;ABBA01021445;AC126345;AMYH01003603;BK004379;CS248434;NG_004331 BAC05972;CAJ56737;DAA04777;Q8NGN8 OR4A4 APPROVED pseudo 15161 INFERRED 1345225 OR4A50P olfactory receptor, family 4, subfamily A, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52586811 52587297 + 54999895 55000580 + 55243420 55243905 + 403256 ABBA01021457;AMYH01003641;AP005639;NG_004420 1703566 SHGC-82772 APPROVED pseudo 31269 INFERRED 1353001 OR4A6P olfactory receptor, family 4, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51836045 51837014 + 51249939 51251108 - 51393463 51394432 - 390131 ABBA01021445;AC087377;AMYH01003603;NG_004329 1671693 D11S1093 APPROVED pseudo 15163 INFERRED 1352676 OR3A3 olfactory receptor, family 3, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3337601 3338566 + 3270612 3271577 + 3323862 3324827 + 1580863;6480464 8004088;16625196;14983052;12644552;12477932;12213199;10673334;9500546;20379614 8392 O43880;P47888 ABBA01054737;AC025125;AF087926;AF095725;AF399620;AMYH01008030;BC069415;BC108921;BK004236;CH471108;NM_012373;U04688;U76377;U78308;U86243;U86245 AAA18351;AAC39623;AAC39625;AAD00250;AAD00277;AAF03262;AAF37316;AAH69415;AAI08922;AAK95105;DAA04634;EAW90514;NP_036505;P47888 Hs.532689 5492371;5492581 Olfr399;UniSTS:481718 OR17-137;OR17-16;OR17-201;OR3A6;OR3A7;OR3A8P OTTHUMP00000115808;olfactory receptor 17-201;olfactory receptor 3A3;olfactory receptor 3A6;olfactory receptor 3A7;olfactory receptor 3A8;olfactory receptor OR17-22;olfactory receptor, family 3, subfamily A, member 6;olfactory receptor, family 3, subfamily A, member 7;olfactory receptor, family 3, subfamily A, member 8 pseudogene APPROVED protein-coding ENSG00000159961 8284 11413 VALIDATED 1349506 OR4A8P olfactory receptor, family 4, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51794076 51795020 + 51291935 51293079 - 51435460 51436404 - 16554811;14983052;12730696;12644552 81315 P0C604 ABBA01021445;AC087377;AMYH01003603;NG_004235 P0C604 OR4A8 APPROVED pseudo 15165 INFERRED 1350231 OR4A9P olfactory receptor, family 4, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52499379 52500322 + 54912481 54913624 + 55156006 55156949 + 390137 ABBA01021457;AMYH01003640;AP005639;NG_004333 APPROVED pseudo 15166 INFERRED 1348023 OR4A7P olfactory receptor, family 4, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51803651 51804560 + 51282396 51283505 - 51425920 51426829 - 81316 ABBA01021445;AC087377;AMYH01003603;NG_004236 1737967 D11S3572 APPROVED pseudo 15164 INFERRED 1350665 OR4B2P olfactory receptor, family 4, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48398951 48399853 + 48205457 48206559 + 48248982 48249884 + 26690 ABBA01060679;AC026975;AMYH01003557;NG_004136 hg449 APPROVED pseudo 8291 INFERRED 1352354 OR4B1 olfactory receptor, family 4, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48388533 48389462 + 48194938 48195867 + 48238362 48239291 + 1580863;6480464 14983052;12213199 119765 Q8NGF8 AB065848;ABBA01060679;AC026975;AF399579;AMYH01003557;BK004387;CH471064;CS248254;NM_001005470 AAK95064;BAC06066;CAJ56651;DAA04785;EAW67872;NP_001005470;Q8NGF8 Hs.553566 OR11-106;OST208 OTTHUMP00000233585;olfactory receptor 4B1;olfactory receptor OR11-106 APPROVED protein-coding ENSG00000175619 8290 14960 PROVISIONAL 1350510 OR4C10P olfactory receptor, family 4, subfamily C, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48603906 48604836 - 48410230 48411375 - 48453769 48454699 - 79526 ABBA01060679;AC023080;AMYH01003557;AP002509;NG_002264 APPROVED pseudo 14800 INFERRED 1349592 OR3A4P olfactory receptor, family 3, subfamily A, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is transcribed and contains an intact ORF, but it is predicted to be a pseudogene due to a poorly conserved 7-transmembrane domain structure. [provided by RefSeq, Sep 2008] 17 17 17 p13.3 3227270 3228471 + 3160355 3161401 + 3213539 3214740 + 16939646;14983052;12477932;12213199;10673334;8921386;8004088 390756 P47883 ABBA01054735;AC002085;AC007194;AC023106;AC087498;AF087920;AF087921;AF399621;AMYH01008029;BC136874;BC136875;BK004695;BK004725;CH471108;NR_024128;U04680;U58675 AAA18344;AAK95106;EAW90517 Hs.632245 OLFRA05;OLFRA06;OR17-13;OR17-16;OR17-24;OR17-25;OR24;OR25;OR3A4;OR3A5P APPROVED pseudo ENSG00000180068 15510 14957 VALIDATED 1344335 OR4A16 olfactory receptor, family 4, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52454042 52455028 + 54867253 54868239 + 55110677 55111663 + 1580863 14983052;12477932 81327 Q8NH70 AB065519;ABBA01021457;AMYH01003640;AP005639;BC140748;BK004249;CH471076;NM_001005274 AAI40749;BAC05767;DAA04647;EAW73672;NP_001005274;Q8NH70 Hs.554530 OR11-117;OR4A16Q OTTHUMP00000234033;olfactory receptor 4A16;olfactory receptor OR11-117 APPROVED protein-coding ENSG00000181961 15153 14959 PROVISIONAL 1350316 OR4C14P olfactory receptor, family 4, subfamily C, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52647869 52648791 + 55060954 55062076 + 55304479 55305401 + 81310 ABBA01021457;AMYH01003641;AP001998;NG_004234 APPROVED pseudo 15170 INFERRED 1352775 OR4C15 olfactory receptor, family 4, subfamily C, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 q11 55078359 55079471 + 55321783 55322895 + 6480464 14983052 81309 Q8NGM1 AB065771;ABBA01021457;AMYH01003641;AP001998;BK004319;BK004320;CH471076;NM_001001920 BAC05991;DAA04717;DAA04718;EAW73674;NP_001001920;Q8NGM1 Hs.589003 OR11-127;OR11-134 OTTHUMP00000234035;olfactory receptor 4C15;olfactory receptor OR11-127;olfactory receptor OR11-134 APPROVED protein-coding ENSG00000181939 15171 14963 PROVISIONAL 1349325 OR4C16 olfactory receptor, family 4, subfamily C, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52681430 52682362 + 55096180 55097112 + 55339604 55340536 + 1580863;6480464 16554811;14983052 219428 Q8NGL9 AB065773;ABBA01021457;AMYH01003642;AP001998;BK004504;CH471076;CS248152;NM_001004701 BAC05993;CAJ56603;DAA04902;EAW73675;NP_001004701;Q8NGL9 Hs.553619 OR11-135 OTTHUMP00000228885;olfactory receptor 4C16;olfactory receptor OR11-135 APPROVED protein-coding ENSG00000181935 15172 17721 VALIDATED 1345209 OR4C17P olfactory receptor, family 4, subfamily C, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11 11 q12.1 48523651 48523973 - 48373686 48374008 - 406873 AC023080;NG_004441 OR4C17;OR4C47P pseudo 19605 1347275 OR4C1P olfactory receptor, family 4, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52620506 52621630 + 55033690 55034814 + 55277114 55278238 + 6480464 1370859 26242 ABBA01021457;AC021304;AMYH01003641;AP001998;NG_002184;X64985 Hs.550274 HSHTPCRX11;HTPCRX11;OR4C1 APPROVED pseudo 8292 INFERRED 1353535 OR4C2P olfactory receptor, family 4, subfamily C, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48591732 48592768 + 48398071 48399307 + 48441595 48442631 + 14983052 119750 AB065547;AB065568;ABBA01060679;AC023080;AMYH01003557;BK004694;BK004807;NG_002250 OR4C8P APPROVED pseudo 14696 INFERRED 1343611 OR4A5 olfactory receptor, family 4, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51818032 51819102 + 51268024 51268971 - 51411378 51412448 - 1580863 16554811;14983052;12477932;20881960 81318 Q8NH83 AB065506;ABBA01021445;AC087377;AMYH01003603;BC140750;BK004378;CH471076;CS248436;NM_001005272 AAI40751;BAC05754;CAJ56738;DAA04776;EAW73669;NP_001005272;Q8NH83 Hs.554531 OR11-111 OTTHUMP00000234168;olfactory receptor 4A5;olfactory receptor OR11-111;seven transmembrane helix receptor APPROVED protein-coding ENSG00000221840 15162 17719 VALIDATED 1351568 OR4A47 olfactory receptor, family 4, subfamily A, member 47 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.2 48466921 48467850 + 48510345 48511274 + 6480464 16554811;14983052;12213199;12477932 403253 Q6IF82 ABBA01060679;AC134982;AMYH01003557;BC140738;BK004380;NM_001005512 AAI40739;DAA04778;NP_001005512;Q6IF82 Hs.554532 OR11-113 OTTHUMP00000233588;olfactory receptor 4A47;olfactory receptor OR11-113 APPROVED protein-coding ENSG00000237388 31266 17718 VALIDATED 1346442 OR4C45 olfactory receptor, family 4, subfamily C, member 45 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p11.12 50205651 50206571 + 48366900 48373999 - 6480464 18674749 403257 A6NMZ5 ABBA01060662;AC023080;AC110057;FP710250;NM_001005513 A6NMZ5;AAI52968;AAI56622;NP_001005513 Hs.554533 olfactory receptor 4C45 APPROVED protein-coding 31270 17723 PROVISIONAL 1343294 OR4C46 olfactory receptor, family 4, subfamily C, member 46 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51706272 51715221 - 51371858 51372787 + 51515282 51516211 + 6480464 21822266 119749 A6NHA9 ABBA01021444;AC126345;AMYH01003603;NM_001004703 A6NHA9;NP_001004703 Hs.553564 OTTHUMP00000234032;olfactory receptor 4C46 APPROVED protein-coding ENSG00000185926 31271 14964 614273 PROVISIONAL 1349390 OR4C48P olfactory receptor, family 4, subfamily C, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 50191563 50192487 + 403259 ABBA01060662;AC110057;FP710250;NG_004421 APPROVED pseudo 31272 INFERRED 1347194 OR3A1 olfactory receptor, family 3, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 3208656 3209603 - 3141679 3142626 - 3194929 3195876 - 1580863;6480464 8647456;8921386;17579849;16980412;15489334;14983052;12477932;10673334;8004088 4994 P47881 ABBA01054735;AC087498;AF087924;AMYH01008028;BC069414;BC096187;BC096188;BC096189;BC096190;BK004238;CH471108;NM_002550;U04683;U04684;X80391 AAA18347;AAA18348;AAF37314;AAH69414;AAH96187;AAH96188;AAH96189;AAH96190;CAA56602;DAA04636;EAW90518;NP_002541;P47881 Hs.647410 5092480;5492473 G54322;UniSTS:481224 OLFRA03;OR17-40;OR17-82;OR40 OTTHUMP00000115801;olfactory receptor 17-40;olfactory receptor 3A1;olfactory receptor OR17-15 APPROVED protein-coding ENSG00000180090 8282 10131 VALIDATED 1351373 OR4C49P olfactory receptor, family 4, subfamily C, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 50226174 50227070 - 403260 ABBA01060662;AC110057;FP710250;NG_004422 APPROVED pseudo 31273 INFERRED 1353434 OR4C4P olfactory receptor, family 4, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 48516830 48523979 - 48323441 48330590 - 48366900 48373999 - 14983052 79550 ABBA01060679;AC023080;AMYH01003557;BK004583;NG_002275 OR4C17;OR4C17P;OR4C47P APPROVED pseudo 14700 INFERRED 1348715 OR4C50P olfactory receptor, family 4, subfamily C, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51703352 51704278 + 51383350 51384476 - 51526874 51527800 - 256190 ABBA01021444;AC126345;AMYH01003603;NG_004295 APPROVED pseudo 31274 INFERRED 1353782 OR4C7P olfactory receptor, family 4, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51746131 51747255 - 51339803 51340927 + 51483227 51484351 + 79294 ABBA01021445;AC126345;AMYH01003603;AP002491;NG_002229 APPROVED pseudo 14768 INFERRED 1350174 OR4C9P olfactory receptor, family 4, subfamily C, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48635772 48636696 - 48442081 48443205 - 48485605 48486529 - 79530 ABBA01060679;AC134982;AMYH01003557;AP002509;NG_002267 APPROVED pseudo 14796 INFERRED 1353934 OR4C5 olfactory receptor, family 4, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48537072 48538063 - 48343525 48344516 - 48386949 48387940 - 6480464 14983052 79346 Q8NGB2 ABBA01060679;AC023080;AMYH01003557;NG_002247 Q8NGB2 OR4C5P;OR4C5Q APPROVED pseudo 14702 INFERRED 1350996 OR4C12 olfactory receptor, family 4, subfamily C, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50154251 50155313 - 49959684 49960613 - 50003009 50004071 - 1580863;6480464 14983052;12213199;12477932 283093 Q8NH84;Q96R67 AB065505;ABBA01060662;AC110057;AF399576;AMYH01003580;AP006622;BC136850;BC136851;BK004413;CH471064;FP710250;NM_001005270 AAI36851;AAI36852;AAK95061;BAC05753;DAA04811;EAW67852;NP_001005270;Q96R67 Hs.553669 OR11-259 OTTHUMP00000234017;olfactory receptor 4C12;olfactory receptor OR11-259;seven transmembrane helix receptor APPROVED protein-coding ENSG00000221954 15168 14962 VALIDATED 1351925 OR4D11 olfactory receptor, family 4, subfamily D, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56632331 56633266 + 59027625 59028560 + 59271049 59271984 + 1580863 14983052;12213199 219986 Q8NGI4 AB065810;ABBA01021501;AF399440;AMYH01003661;AP003778;BK004688;CH471076;NM_001004706 BAC06029;EAW73847;NP_001004706;Q8NGI4 Hs.553651 2219310 OR4D11__6029 OR4D11P OTTHUMP00000235748;olfactory receptor 4D11;olfactory receptor OR11-252 pseudogene;olfactory receptor, family 4, subfamily D, member 11 pseudogene APPROVED protein-coding ENSG00000176200 15174 17725 PROVISIONAL 1349155 OR4D12P olfactory receptor, family 4, subfamily D, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 p16.3 4179134 4180358 - 4128333 4129357 - 9847074 282754 ABBA01008238;AC011744;AMYH01013900;NG_004296 OR7E103P APPROVED pseudo ENSG00000198787 19587 INFERRED 1344303 OR4D2 olfactory receptor, family 4, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 q22 52708796 52709719 + 53602016 53602939 + 56247017 56247940 + 6480464 16625196;14983052;12213199 124538 P58180 AB065912;ABBA01041328;AC005962;AF303373;AF399568;AMYH01008511;BK004224;CH471109;NM_001004707 AAI41569;AAI46584;AAK95053;AAL26785;BAC06127;DAA04622;EAW94481;NP_001004707;P58180 Hs.446879 BC2009;OR17-24 B-lymphocyte membrane protein BC2009;G-protein coupled membrane protein;olfactory receptor 4D2;olfactory receptor OR17-24 APPROVED protein-coding ENSG00000255713 8294 14967 PROVISIONAL 1342612 OR4C13 olfactory receptor, family 4, subfamily C, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50125204 50126232 + 49930551 49931480 + 49973943 49974971 + 1580863 14983052;12213199;12477932 283092 Q8NGP0 AB065750;ABBA01060662;AC110057;AF399575;AMYH01003580;AP006587;BC137005;BK004414;CH471064;NM_001001955 AAI37006;AAK95060;BAC05970;DAA04812;EAW67853;NP_001001955;Q8NGP0 Hs.553668 OTTHUMP00000234016;olfactory receptor 4C13;olfactory receptor OR11-260 APPROVED protein-coding ENSG00000258817 15169 17720 VALIDATED 1354381 OR4C11 olfactory receptor, family 4, subfamily C, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52712746 52713678 - 55127493 55128425 - 55370830 55371874 - 14983052;12477932 219429 Q6IEV9 AB065774;ABBA01021457;AMYH01003642;AP006437;BC140727;BK004503;CH471076;NM_001004700 AAI40728;BAC05994;DAA04901;EAW73676;NP_001004700;Q6IEV9 Hs.553620 2107467 OR4C11__7151 OR11-136;OR4C11P OTTHUMP00000229273;olfactory receptor 4C11;olfactory receptor OR11-136;olfactory receptor, family 4, subfamily C, member 11 pseudogene APPROVED protein-coding ENSG00000172188 15167 14961 VALIDATED 1344452 OR4D7P olfactory receptor, family 4, subfamily D, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56661833 56662846 + 59055646 59056859 + 59299171 59300184 + 81304 ABBA01021502;AMYH01003661;AP003778;NG_004233 OST724 APPROVED pseudo 15176 INFERRED 1350642 OR4D8P olfactory receptor, family 4, subfamily D, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56620408 56621366 + 59015601 59016759 + 59259126 59260084 + 14983052;12213199 401696 AB065809;ABBA01021501;AF399441;AMYH01003661;AP003778;BK004568;NG_004232 APPROVED pseudo 15177 INFERRED 1606644 OR4D9 olfactory receptor, family 4, subfamily D, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56645048 56645992 + 59038962 59039906 + 59282386 59283330 + 16554811;14983052 390199 Q8NGE8 AB065861;ABBA01021501;AMYH01003661;AP003778;BK004309;CH471076;NM_001004711 BAC06079;DAA04707;EAW73848;NP_001004711;Q8NGE8 Hs.553757 2219314 OR4D9__6033 OR11-253 OTTHUMP00000235749;olfactory receptor 4D9;olfactory receptor OR11-253;olfactory receptor, family 4, subfamily D, member 9 pseudogene APPROVED protein-coding ENSG00000172742 15178 17728 PROVISIONAL 1344385 OR4E1 olfactory receptor, family 4, subfamily E, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 2001656 2002800 - 21207944 21209090 - 22138104 22139250 - 12213199;14983052;17973576;9110172;8188290 26687 P0C645 AB065562;ABBA01061265;AE000658;AF399450;AMYH01005596;BK004671;NG_001332 P0C645 OR4E1P APPROVED pseudo 8296 REVIEWED 1352705 OR4E2 olfactory receptor, family 4, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1996670 1997611 + 21203137 21204078 + 22133297 22134238 + 1580863;6480464 14983052;12213199;9110172;8188290 26686 Q8NGC2 AB065895;ABBA01061265;AE000521;AE000658;AF399581;AMYH01005596;AY726598;BK004526;CH471078;NG_001332;NM_001001912 AAI46415;AAI48854;AAK95066;BAC06111;DAA04924;EAW66372;NP_001001912;Q8NGC2 Hs.547982 OR14-42 OTTHUMP00000239887;olfactory receptor 4E2;olfactory receptor OR14-42 APPROVED protein-coding ENSG00000221977 8297 11414 VALIDATED 1343961 OR4F13P olfactory receptor, family 4, subfamily F, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78811665 78812601 + 100206271 100207407 + 102382322 102390527 + 6480464 390651 Q32VQ0 AB065564;ABBA01020514;AC107977;AMYH01006975;AY792621;NR_046417 AAY34251;Q32VQ0 Hs.578689 GPCRLTM7 APPROVED pseudo ENSG00000214344 15076 VALIDATED 1342934 OR4C3 olfactory receptor, family 4, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48496460 48497449 + 48303069 48304058 + 48346493 48347482 + 1580863;6480464 14983052;12477932 256144 Q8NH37 AB065567;ABBA01060679;AC023080;AMYH01003557;BC136853;BC136854;BK004349;CH471064;NM_001004702 AAI36854;AAI36855;BAC05803;DAA04747;EAW67868;NP_001004702;Q8NH37 Hs.553656 OR11-98 OTTHUMP00000233587;olfactory receptor 4C3;olfactory receptor OR11-98 APPROVED protein-coding ENSG00000176547 14697 17722 PROVISIONAL 1605190 OR4F14P olfactory receptor, family 4, subfamily F, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78791740 78792675 + 100186367 100187502 + 102368944 102369879 + 390650 AB065901;ABBA01020514;AC107977;AMYH01006975;NG_004356 BAC06117 OR4F14 APPROVED pseudo 15077 INFERRED 1349131 OR4F16 olfactory receptor, family 4, subfamily F, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 p36.33 610959 611897 - 621096 622034 - 6480464 16710414;14983052 81399 Q6IEY1 AC114498;AMYH01003251;BC137547;BC137568;BK004481;NM_001005277 AAI37548;AAI37569;DAA04879;NP_001005277;Q6IEY1 Hs.632360;Hs.722724 OR1-1;OR4F29;OR4F3;OR7-21 H_DJ0855D21.1;OTTHUMP00000002675;WUGSC:H_DJ0855D21.1;olfactory receptor 4F3/4F16/4F29;olfactory receptor OR1-1;olfactory receptor OR4F16;olfactory receptor OR7-21 APPROVED protein-coding ENSG00000185097 15079 14969 PROVISIONAL 1348576 OR4D10 olfactory receptor, family 4, subfamily D, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56606185 56607120 + 59001479 59002414 + 59244903 59245838 + 1580863;6480464 14983052;12644552;12213199;12477932 390197 Q8NGI5;Q8NGI6 AB065808;AB065809;ABBA01021501;AF399442;AF546476;AMYH01003661;AP003778;BC136893;BC136894;BK004311;CH471076;CS248280;NM_001004705 AAI36894;AAI36895;BAC06027;BAC06028;CAJ56663;DAA04709;EAW73846;NP_001004705;Q8NGI6 Hs.553756 OR11-251;OR4D10P;OST711 OTTHUMP00000235747;olfactory receptor 4D10;olfactory receptor OR11-251;olfactory receptor, family 4, subfamily D, member 10 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000254466 15173 14966 PROVISIONAL 1345291 OR4C6 olfactory receptor, family 4, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52774494 52775423 + 55189219 55190148 + 55432643 55433572 + 1580863;6480464 14983052;12477932 219432 Q8NH72 AB065517;ABBA01021457;AC022289;AMYH01003642;AP006437;BC137216;BC137218;BK004330;CH471076;CS248114;NM_001004704 AAI37217;AAI37219;BAC05765;CAJ56584;DAA04728;EAW73679;NP_001004704;Q8NH72 Hs.511921 1750385;1751117 SHGC-104959;SHGC-112568 OR11-138 OTTHUMP00000234201;olfactory receptor 4C6;olfactory receptor OR11-138 APPROVED protein-coding ENSG00000181903 14743 17724 PROVISIONAL 1354367 OR4F21 olfactory receptor, family 4, subfamily F, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.3 106086 107024 - 116086 117024 - 441308 O95013 AC004908;AC131281;AMYH01018255;NM_001005504 AAD05195;NP_001005504;O95013 Hs.690459 OR4F21P OTTHUMP00000225359;olfactory receptor 4F21;olfactory receptor, family 4, subfamily F, member 21 pseudogene APPROVED protein-coding 19583 17729 PROVISIONAL 1348924 OR4F28P olfactory receptor, family 4, subfamily F, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q26.3 100233590 100234724 + 102416167 102417101 + 390652 AC107977;AMYH01006975;NG_004358 APPROVED pseudo 31229 INFERRED 1347170 OR4F1P olfactory receptor, family 4, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 p25.3 50822 51956 - 105922 106856 - 9847074 26685 AL353654;AMYH01016007;NG_004134 HSDJ0609N19;OR4F1 APPROVED pseudo 8298 INFERRED 1344305 OR4F29 olfactory receptor, family 4, subfamily F, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 p36.33 356723 358460 + 367659 368597 + 16710414;14983052 729759 Q6IEY1;Q8NGN9 AL732372;BC137547;BC137568;NM_001005221 AAI37548;AAI37569;NP_001005221;Q6IEY1 Hs.632360;Hs.722724 OR4F16;OR4F3;OR7-21 H_DJ0855D21.1;OTTHUMP00000002885;olfactory receptor 4F3/4F16/4F29;olfactory receptor OR1-1;olfactory receptor OR7-21;seven transmembrane helix receptor APPROVED protein-coding ENSG00000235249 31275 14971 VALIDATED 1346867 OR4D1 olfactory receptor, family 4, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 17 17 17 q23.2 52694294 52695226 + 53587514 53588446 + 56232515 56233447 + 633349;1580863;6480464 9119360 14983052;12213199;12477932;20379614 26689 Q15615;Q8NH96 AB065489;AB065913;ABBA01041327;AC005962;AF399567;AMYH01008511;BC136589;BC136595;BK004544;CH471109;NM_012374;X89670 AAI36590;AAI36596;AAK95052;BAC05741;BAC06128;CAA61817;EAW94482;NP_036506;Q15615 Hs.531188 OR17-23;OR4D3;OR4D4P;TPCR16 olfactory receptor 4D1;olfactory receptor 4D3;olfactory receptor OR17-23 pseudogene;olfactory receptor TPCR16;olfactory receptor, family 4, subfamily D, member 3;olfactory receptor, family 4, subfamily D, member 4 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000141194 8293 14965 PROVISIONAL 1354132 OR4F2P olfactory receptor, family 4, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p15.5 76652 77586 - 86652 87586 - 390028 ABBA01168384;AC069287;NG_004259 HS191N21;OR4F2;S191N21;hs6M1-11 APPROVED pseudo 8299 INFERRED 1343066 OR4D5 olfactory receptor, family 4, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120969505 120970461 + 123315534 123316490 + 123810324 123811280 + 1580863 14983052;12477932 219875 Q8NGN0 AB065760;ABBA01031265;AMYH01004102;AP002407;BC136943;BC136945;BK004316;CH471065;CS248096;NM_001001965 AAI36944;AAI36946;BAC05980;CAJ56575;DAA04714;EAW67561;NP_001001965;Q8NGN0 Hs.553639 2219312 OR4D5__6031 OR11-276 OTTHUMP00000231614;olfactory receptor 4D5;olfactory receptor OR11-276 APPROVED protein-coding ENSG00000171014 14852 17726 PROVISIONAL 1346395 OR4F5 olfactory receptor, family 4, subfamily F, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 p36.33 58954 59871 + 69091 70008 + 1580863;6480464 16710414 79501 Q8NH21 AB065592;AL627309;NM_001005484 BAC05820;NP_001005484;Q8NH21 Hs.554500 OTTHUMP00000001248;olfactory receptor 4F5 APPROVED protein-coding 14825 14974 PROVISIONAL 1345921 OR4D6 olfactory receptor, family 4, subfamily D, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56585714 56586658 + 58981010 58981954 + 59224434 59225378 + 1580863 14983052;12213199;12477932;21832049 219983 Q8NGJ1 AB065803;ABBA01021501;AF399569;AMYH01003661;AP003778;BC137028;BC137029;BK004307;CH471076;CS248282;NM_001004708 AAI37029;AAI37030;AAK95054;BAC06022;CAJ56664;DAA04705;EAW73845;NP_001004708;Q8NGJ1 Hs.553650 2107469 OR4D6__7140 OR11-250 OTTHUMP00000235746;olfactory receptor 4D6;olfactory receptor OR11-250 APPROVED protein-coding ENSG00000166884 15175 17727 PROVISIONAL 1344483 OR4F8P olfactory receptor, family 4, subfamily F, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 p13.3 107182 108316 - 156282 157216 - 390872 AC010509;AC016626;AMYH01009160;NG_004359 OR4F20P;OR4F9P APPROVED pseudo 15395 INFERRED 1605029 OR4F7P olfactory receptor, family 4, subfamily F, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 q27 170790519 170791641 + 170948694 170949616 + 9847074 81390 AL031259;NG_004682 OR4F10 APPROVED pseudo 15089 INFERRED 1354219 OR4G11P olfactory receptor, family 4, subfamily G, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 p36.33 52778 53847 + 63016 63885 + 403263 AL627309;NG_004423 APPROVED pseudo 31276 INFERRED 1351007 OR4G1P olfactory receptor, family 4, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 p13.3 55501 56569 + 104602 105470 + 9384599 26681 ABBA01158049;AC005605;AC008977;AMYH01009146;NG_004133 OLB;OR4G8P APPROVED pseudo 8302 INFERRED 1348522 OR4G2P olfactory receptor, family 4, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q26 100284353 100285029 - 102466830 102467506 - 26680 AB065964;AC140725;AF282024;AMYH01006975;NG_003201 OR4G7P APPROVED pseudo 8303 INFERRED 1353858 OR4G3P olfactory receptor, family 4, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 p13.3 44977 46040 + 94077 94940 + 9384599 26679 AC008993;AMYH01009146;L78442;NG_003222 OLC;OLC-7501;OR4G3;OR4G5P APPROVED pseudo 8304 INFERRED 1352059 OR4G4P olfactory receptor, family 4, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 p36.33 42215 43358 + 52453 53396 + 79504 ABBA01172146;AL627309;NG_004148 APPROVED pseudo 14822 INFERRED 1348007 OR4H12P olfactory receptor, family 4, subfamily H, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 93519 94397 + 19297909 19298787 + 20228069 20228947 + 14983052 161271 Q6IEX5 AB065963;ABBA01061213;AL512310;AMYH01005581;BK004487;NG_004089 BAC06175 C14orf14;OR4H12;c14_5009 APPROVED pseudo 19433 INFERRED 1344172 OR4H6P olfactory receptor, family 4, subfamily H, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19846219 19846855 + 22344854 22345489 + 12213199;9500546 26322 ABBA01017833;AC134980;AF399449;AMYH01006363;NG_002185;U86226;U86229;U86230;U86231;U86232;U86233;U86265;U86266;U86268;U86269;U86273 OR14-58;OR15-69;OR15-71;OR15-80;OR15-81;OR15-82;OR4-114;OR4-115;OR4-119;OR4H10;OR4H10P;OR4H11;OR4H11P;OR4H1P;OR4H2;OR4H2P;OR4H3;OR4H3P;OR4H4;OR4H4P;OR4H5;OR4H5P;OR4H6;OR4H7;OR4H7P;OR4H8;OR4H8P;OR4H9;OR4H9P;OR5-39;OR5-84 APPROVED pseudo 8312 INFERRED 1348052 OR4H8P olfactory receptor, family 4, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 14 q11.2 22344854 22345489 + 9500546 26320 AC134980;NG_002185;U86226 OR14-58;OR4H8 pseudo 8314 1604781 OR4G6P olfactory receptor, family 4, subfamily G, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q26 100295176 100296319 - 102477752 102478695 - 14983052 81438 AC140725;AMYH01006975;BK004536;NG_004268 OR11-302 APPROVED pseudo 15039 INFERRED 1345454 OR4K11P olfactory receptor, family 4, subfamily K, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 21 21 q11.1 13838323 13839477 - 14916552 14917506 - 12644552 81079 AF546490;AMYH01012132;AP001465;NG_004161 OR21-1 APPROVED pseudo 15402 INFERRED 1354408 OR4K12P olfactory receptor, family 4, subfamily K, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 21 21 q11.1 13875164 13876296 - 14953393 14954325 - 81078 AMYH01012132;AP001465;NG_004160 OR21-2 APPROVED pseudo 15403 INFERRED 1351116 OR4K13 olfactory receptor, family 4, subfamily K, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 367499 368413 - 19571843 19572757 - 20502003 20502917 - 1580863;6480464 14983052 390433 Q8NH42 AB065559;ABBA01061218;AL359218;AMYH01005581;BK004449;CH471078;CS248338;NM_001004714 BAC05797;CAJ56862;DAA04847;EAW66489;NP_001004714;Q8NH42 Hs.553573 OR14-27 OTTHUMP00000244392;olfactory receptor 4K13;olfactory receptor OR14-27 APPROVED protein-coding ENSG00000176253 15351 14976 PROVISIONAL 1351117 OR4F15 olfactory receptor, family 4, subfamily F, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78781186 78782124 + 100175913 100176851 + 102358390 102359328 + 1580863 14983052;12908129;12213199;12477932 390649 Q86SI3;Q8NGB8 AB065900;ABBA01020514;AC107977;AF399573;AMYH01006975;AY284005;AY284006;AY284007;AY284008;AY284009;AY284010;AY284011;AY284012;AY284013;AY284014;AY284015;AY284016;AY284017;AY284018;AY284019;AY284020;AY284021;AY284022;AY284023;AY284024;AY284025;AY284026;AY284027;AY284028;AY284029;AY284030;AY284031;AY284032;AY284033;AY284034;AY284035;AY284036;BC137064;BC137065;BK004405;CH471101;NM_001001674 AAI37065;AAI37066;AAK95058;AAP32511;AAP32512;AAP32513;AAP32514;AAP32515;AAP32516;AAP32517;AAP32518;AAP32519;AAP32520;AAP32521;AAP32522;AAP32523;AAP32524;AAP32525;AAP32526;AAP32527;AAP32528;AAP32529;AAP32530;AAP32531;AAP32532;AAP32533;AAP32534;AAP32535;AAP32536;AAP32537;AAP32538;AAP32539;AAP32540;AAP32541;AAP32542;BAC06116;DAA04803;EAX02320;NP_001001674;Q8NGB8 Hs.554589 2106563 OR4F15__6034 olfactory receptor 4F15;olfactory receptor OR15-14 APPROVED protein-coding ENSG00000182854 15078 14968 PROVISIONAL 1347325 OR4K14 olfactory receptor, family 4, subfamily K, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 347909 348841 - 19552260 19553192 - 20482420 20483352 - 1580863 14983052;12213199 122740 Q8NGD5 AB065880;ABBA01061218;AF399572;AL359218;AMYH01005581;BK004521;BK004816;CH471078;CS248428;NM_001004712 AAK95057;BAC06098;CAJ56734;DAA04919;EAW66490;NP_001004712;Q8NGD5 Hs.626814 OR14-18;OR14-22 OTTHUMP00000244391;olfactory receptor 4K14;olfactory receptor OR14-18 pseudogene;olfactory receptor OR14-22 APPROVED protein-coding ENSG00000169484 15352 14977 PROVISIONAL 1347330 OR4K16P olfactory receptor, family 4, subfamily K, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 290214 291221 + 19494446 19495653 + 20424706 20425713 + 81126 ABBA01061215;AL359218;AMYH01005581;NG_004172 OR14-24 APPROVED pseudo 15354 INFERRED 1317906 OR4K17 olfactory receptor, family 4, subfamily K, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 447156 448187 + 19655406 19656437 + 20585566 20586597 + 14983052 390436 Q8NGC6 AB065891;ABBA01061220;AL163152;AMYH01005582;BK004450;CH471078;CS248250;NM_001004715 BAC06107;CAJ56650;DAA04848;EAW66488;NP_001004715;Q8NGC6 Hs.553765 2219316 OR4K17__6039 OR14-29 OTTHUMP00000244393;olfactory receptor 4K17;olfactory receptor OR14-29 APPROVED protein-coding ENSG00000176230 15355 14979 PROVISIONAL 1345738 OR4F17 olfactory receptor, family 4, subfamily F, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 p13.3 61679 62596 + 110679 111596 + 1580863 11689484;11689483;9384599;12477932 81099 Q8NGA8 AB065917;ABBA01178260;AC008977;AMYH01009146;AY972818;BC136848;BC136867;NM_001005240 AAI36849;AAI36868;AAX86698;BAC06132;NP_001005240;Q8NGA8 Hs.572591 OR4F11P;OR4F18;OR4F19 olfactory receptor 4F11;olfactory receptor 4F17;olfactory receptor 4F18;olfactory receptor 4F19;olfactory receptor, family 4, subfamily F, member 11 pseudogene;olfactory receptor, family 4, subfamily F, member 19 APPROVED protein-coding ENSG00000176695 15381 14970 PROVISIONAL 1350165 OR4K3 olfactory receptor, family 4, subfamily K, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 201656 203003 - 19405996 19407342 - 20336156 20337502 - 14983052;12730696;12508121;12213199 283617 Q96R72 AB065884;ABBA01061213;AL391156;AMYH01005581;NG_003198 Q96R72 OR14-10;OR4K3P olfactory receptor, family 4, subfamily K, member 3 gene/pseudogene;olfactory receptor, family 4, subfamily k, member 3 pseudogene APPROVED pseudo 14731 INFERRED 1344296 OR4K4P olfactory receptor, family 4, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 239341 240273 + 19443611 19444743 + 20373871 20374803 + 79318 ABBA01061214;AC024399;AL391156;AMYH01005581;NG_002242 APPROVED pseudo 14744 INFERRED 1353024 OR4F3 olfactory receptor, family 4, subfamily F, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 q35.3 180726095 180727832 + 180794288 180795226 + 14983052;12477932 26683 Q6IEY1;Q6IFP3 AC138030;AC139237;BC137547;BC137568;BK004219;NM_001005224 AAI37548;AAI37569;DAA04617;NP_001005224;Q6IEY1 Hs.722724 OR4F16;OR4F29 OTTHUMP00000221203;olfactory receptor 4F3/4F16/4F29;olfactory receptor OR1-1;olfactory receptor OR7-21 APPROVED protein-coding ENSG00000230178 8300 14972 PROVISIONAL 1350427 OR4F4 olfactory receptor, family 4, subfamily F, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q26.3 100279868 100280785 - 102462345 102463262 - 1580863;6480464 14983052;12213199;11689484;11689483;9384599;12477932 26682 Q52R94;Q96R69 AC140725;AF270636;AF399574;AMYH01006975;AY972817;AY972819;BC136907;BC136908;BK004223;NM_001004195 AAI36908;AAI36909;AAK95059;AAX86697;AAX86699;DAA04621;NP_001004195;Q96R69 Hs.554420 OLA-7501;OR4F18 HS14a-1-A;OR4F17;olfactory receptor 4F4;olfactory receptor OR19-3;olfactory receptor, family 4, subfamily F, member 18 APPROVED protein-coding ENSG00000177693 8301 14973 PROVISIONAL 1348908 OR4K6P olfactory receptor, family 4, subfamily K, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 180904 181966 + 19385266 19386328 + 20315426 20316488 + 79314 ABBA01061213;AC024399;AL391156;AMYH01005581;NG_002240 APPROVED pseudo 14748 INFERRED 1604687 OR4K8P olfactory receptor, family 4, subfamily K, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 18 18 p11.21 14603209 14604180 + 14613209 14614180 + 14983052 390836 ABBA01074075;AMYH01008856;AP005058;BK004699;NG_002222 OR18-1;OR4K9P APPROVED pseudo 14787 INFERRED 1349097 OR4L1 olfactory receptor, family 4, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 393710 394629 + 19598044 19598982 + 20528204 20529142 + 1580863;6480464 14983052 122742 Q8NH43 AB065558;ABBA01061218;AL359218;AMYH01005581;BK004467;CS248430;NM_001004717 BAC05796;CAJ56735;DAA04865;NP_001004717;Q8NH43 Hs.553574 2110613 OR4L1__7144 OR14-28;OR4L2P OTTHUMP00000241301;olfactory receptor 4L1;olfactory receptor 4L2;olfactory receptor OR14-28;olfactory receptor, family 4, subfamily L, member 2 pseudogene APPROVED protein-coding ENSG00000176246 15356 14982 PROVISIONAL 1349530 OR4K7P olfactory receptor, family 4, subfamily K, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 18 18 p11.21 14560743 14561715 + 14570743 14571715 + 79306 ABBA01074075;AC013659;AMYH01008856;AP005058;NG_002235 OR4K10P APPROVED pseudo 14756 INFERRED 1343983 OR4F6 olfactory receptor, family 4, subfamily F, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78768718 78769656 + 100163446 100164384 + 102345923 102346861 + 1580863;6480464 14983052;10358071;10488142;12477932;12507995 390648 Q8NGB9 AB065899;ABBA01020514;AC107977;AMYH01006975;BC137002;BC137003;BK004367;CH471101;CS248262;NM_001005326 AAI37003;AAI37004;BAC06115;CAJ56655;DAA04765;EAX02319;NP_001005326;Q8NGB9 Hs.553399 OR15-15;OR4F12 olfactory receptor 4F12;olfactory receptor 4F6;olfactory receptor OR15-15;olfactory receptor, family 4, subfamily F, member 12 APPROVED protein-coding ENSG00000184140 15372 11415 PROVISIONAL 1349619 OR4N1P olfactory receptor, family 4, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 129975 130923 + 19334241 19335389 + 20264504 20265477 + 14983052 79322 ABBA01061213;AC024399;AL391156;AL512310;AMYH01005581;BK004696;BK004715;NG_002243 OR14-12;OR14-6 APPROVED pseudo 14740 INFERRED 1351369 OR4N2 olfactory receptor, family 4, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 161080 162003 + 19365448 19366371 + 20295608 20296531 + 1580863 14983052 390429 G3V3W5;G3V4W1;H3BTD8;Q8NGD1 AB065885;ABBA01061213;AC024399;AL391156;AMYH01005581;BK004360;BK004473;CH471078;NM_001004723 AAI40460;AAI48709;BAC06102;DAA04758;DAA04871;EAW66498;NP_001004723;Q8NGD1 Hs.512490 1772896 GDB:315157 OR14-13;OR14-8 OTTHUMP00000244257;olfactory receptor 4N2;olfactory receptor OR14-13;olfactory receptor OR14-8 APPROVED protein-coding ENSG00000176294 14742 17730 PROVISIONAL 1605498 OR4N3P olfactory receptor, family 4, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19914826 19915749 + 22413462 22414398 + 14983052 390539 Q8N0X1 AB065654;AB065905;ABBA01017700;AC010760;AC134980;AMYH01006364;BK004787;BX114189;NR_028067 BAC05880;BAC06120 Hs.666555 1772896 GDB:315157 OR15-2 APPROVED pseudo ENSG00000259435 15374 VALIDATED 1354130 OR4K1 olfactory receptor, family 4, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 269235 270310 + 19473666 19474601 + 20403767 20404842 + 1580863 14983052;12213199;12477932 79544 Q8NGD4 AB065879;AB065881;ABBA01061215;AC024399;AF399570;AL359218;AMYH01005581;BC151145;BK004356;CH471078;NM_001004063 AAI51146;AAK95055;BAC06097;BAC06099;DAA04754;EAW66494;NP_001004063;Q8NGD4 Hs.554584 OR14-19 OTTHUMP00000244157;olfactory receptor 4K1;olfactory receptor OR14-19 APPROVED protein-coding ENSG00000155249 14726 14975 VALIDATED 1322544 OR4N5 olfactory receptor, family 4, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 473483 474409 + 19681735 19682661 + 20611895 20612821 + 1580863 14983052 390437 Q8IXE1 AB065890;ABBA01061220;AL163152;AMYH01005582;BK004451;CH471078;CS248252;NM_001004724 BAC45262;CAJ56860;DAA04849;EAW66487;NP_001004724;Q8IXE1 Hs.553766 OTTHUMP00000244394;olfactory receptor 4N5;olfactory receptor OR14-33 APPROVED protein-coding ENSG00000184394 15358 14985 PROVISIONAL 1346655 OR4P1P olfactory receptor, family 4, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52792564 52793699 + 55207292 55208427 + 55450716 55451851 + 6480464 79308 AB065518;ABBA01021458;AC022289;AMYH01003642;AP006437;NG_002236 OR4P2P APPROVED pseudo 14754 INFERRED 1349189 OR4P4 olfactory receptor, family 4, subfamily P, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 52747688 52748626 + 55162410 55163348 + 55405834 55406772 + 1580863 12213199 81300 Q8NGL7 AB065775;ABBA01021457;AF399448;AMYH01003642;AP006437;CH471076;NM_001004124 BAC05995;EAW73677;NP_001004124;Q8NGL7 Hs.626750 OR4P3P OTTHUMP00000229315;olfactory receptor 4P3;olfactory receptor 4P4;olfactory receptor, family 4, subfamily P, member 3 pseudogene APPROVED protein-coding ENSG00000181927 15180 14986 PROVISIONAL 1353763 OR4Q1P olfactory receptor, family 4, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19833632 19834812 + 22332368 22333348 + 81104 ABBA01017833;AC134980;AMYH01006363;NG_004162 APPROVED pseudo 15376 INFERRED 1351884 OR4K15 olfactory receptor, family 4, subfamily K, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 309182 310228 + 19513518 19514564 + 20443678 20444724 + 6480464 14983052;12477932 81127 Q8NH41 AB065560;ABBA01061215;AL359218;AMYH01005581;BC140726;BK004468;CH471078;NM_001005486 AAI40727;BAC05798;DAA04866;EAW66492;NP_001005486;Q8NH41 Hs.554583 OR14-20;OR4K15Q OTTHUMP00000244158;olfactory receptor 4K15;olfactory receptor OR14-20 APPROVED protein-coding ENSG00000169488 15353 14978 PROVISIONAL 1347787 OR4Q2 olfactory receptor, family 4, subfamily Q, member 2 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 335810 336739 + 19540062 19541192 + 20470321 20471251 + 14983052;12730696;12213199 390432 P0C623 ABBA01061217;AL359218;AMYH01005581;NG_004349 P0C623 OR4Q2P APPROVED pseudo 15359 INFERRED 1344620 OR4Q3 olfactory receptor, family 4, subfamily Q, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 81050 81991 + 19285427 19286368 + 20215587 20216528 + 1580863;6480464 14983052;10706615 441669 Q8NH05 AB065609;ABBA01061213;AF179768;AL512310;AMYH01005581;BK004488;CH471078;NM_172194 AAI48514;AAI53112;BAC05836;DAA04886;EAW66501;NP_751944;Q8NH05 Hs.553828 C14orf13;HSA6;OR14-3;OR4Q4;c14_5008 OTTHUMP00000244258;olfactory receptor 4Q3;olfactory receptor 4Q4;olfactory receptor OR14-3;olfactory receptor, family 4, subfamily Q, member 4 APPROVED protein-coding ENSG00000182652 15426 17732 PROVISIONAL 1348008 OR4R1P olfactory receptor, family 4, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48657921 48658766 - 48464214 48465259 - 48507739 48508584 - 79528 ABBA01060679;AC134982;AMYH01003557;AP002509;NG_002265 2182846 D11S4420 APPROVED pseudo 14798 INFERRED 1354330 OR4R2P olfactory receptor, family 4, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 51768299 51769155 - 51317802 51318858 + 51461327 51462183 + 81299 ABBA01021445;AC126345;AMYH01003603;NG_004231 2182846 D11S4420 APPROVED pseudo 15181 INFERRED 1351177 OR4R3P olfactory receptor, family 4, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.12 50095905 50096742 + 49901078 49902115 + 49944602 49945439 + 81298 ABBA01060662;AC110057;AMYH01003580;AP006587;NG_004230 APPROVED pseudo 15182 INFERRED 1348625 OR4S1 olfactory receptor, family 4, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48477745 48478674 + 48284351 48285280 + 48327775 48328704 + 1580863 14983052;22581228 256148 Q8NGB4 AB065908;ABBA01060679;AC023080;AMYH01003557;BK004348;CH471064;NM_001004725 BAC06123;DAA04746;EAW67869;NP_001004725;Q8NGB4 Hs.553657 OR11-100 OTTHUMP00000233586;olfactory receptor 4S1;olfactory receptor OR11-100 APPROVED protein-coding ENSG00000176555 14705 14987 PROVISIONAL 1345934 OR4S2 olfactory receptor, family 4, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52760233 52761168 + 55174956 55175891 + 55418380 55419315 + 1580863;6480464 14983052;12644552;12213199;22939629 219431 Q8NH73 AB065516;ABBA01021457;AC027239;AF399447;AF546546;AMYH01003642;AP006437;BK004390;CH471076;CS248346;NM_001004059 AAI41532;BAC05764;CAJ56693;DAA04788;EAW73678;NP_001004059;Q8NH73 Hs.553621 OR11-137;OR4S2P;OST725 OTTHUMP00000234200;olfactory receptor 4S2;olfactory receptor OR11-137;olfactory receptor, family 4, subfamily S, member 2 pseudogene APPROVED protein-coding ENSG00000174982 15183 14988 VALIDATED 1353393 OR4U1P olfactory receptor, family 4, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 377585 378524 + 19581815 19582954 + 20512075 20513014 + 390434 ABBA01061218;AL359218;AMYH01005581;NG_004350 OR14-23 APPROVED pseudo 15361 INFERRED 1351305 OR4T1P olfactory receptor, family 4, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 423104 424024 + 19631254 19632374 + 20561515 20562435 + 390435 ABBA01061218;AL163152;AMYH01005581;NG_004351 APPROVED pseudo 15360 INFERRED 1347269 OR4V1P olfactory receptor, family 4, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52782865 52784004 + 55197589 55198728 + 55441013 55442152 + 79534 ABBA01021457;AC022289;AMYH01003642;AP006437;NG_002270 APPROVED pseudo 14736 INFERRED 1345097 OR4W1P olfactory receptor, family 4, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q25 126021046 126021393 - 125464435 125464982 - 125636854 125637201 - 81077 ABBA01047463;AMYH01022954;NG_004159;Z69908 APPROVED pseudo 15405 INFERRED 1350139 OR4X1 olfactory receptor, family 4, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48435389 48436306 + 48241989 48242906 + 48285413 48286330 + 1580863 17964544;14983052 390113 Q8NH49 AB065544;ABBA01060679;AC026975;AMYH01003557;BK004388;CH471064;CS248256;NM_001004726 BAC05789;CAJ56652;DAA04786;EAW67870;NP_001004726;Q8NH49 Hs.553742 1727047 G62923 OR11-104 OTTHUMP00000229336;olfactory receptor 4X1;olfactory receptor OR11-104 APPROVED protein-coding ENSG00000176567 14854 14989 PROVISIONAL 1353308 OR4X7P olfactory receptor, family 4, subfamily X, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52522380 52522571 + 54935478 54935869 + 55179003 55179194 + 403264 ABBA01021457;AMYH01003640;AP005639;NG_005820 APPROVED pseudo 31277 INFERRED 1353135 OR51A10P olfactory receptor, family 51, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5608244 5609099 - 5446210 5447265 - 5489734 5490589 - 81295 ABBA01028651;AC087380;AMYH01003363;NG_004229 1799748;1800092;1838878;1841872;2054312;2054314;2054316;2054318;2054320;2054322;2054324;2054326;2054328;2054330;2054332;2054334;2054336;2054338;2105796;2105798 ECD00728;ECD00902;ECD20618;ECD22138;REN98318;REN98319;REN98320;REN98321;REN98322;REN98323;REN98324;REN98325;REN98326;REN98327;REN98328;REN98329;REN98330;REN98331;stSG610993;stSG610994 OR51A11P;OR51A13 APPROVED pseudo 15185 INFERRED 1349816 OR4K5 olfactory receptor, family 4, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 254246 255217 + 19458606 19459577 + 20388766 20389737 + 1580863;6480464 14983052;12477932;20379614 79317 Q8NGD3 AB065882;ABBA01061215;AC024399;AL391156;AMYH01005581;BC140947;BK004355;CH471078;NM_001005483 AAI40948;BAC06100;DAA04753;EAW66495;NP_001005483;Q8NGD3 Hs.554585 OR14-16 OTTHUMP00000244149;olfactory receptor 4K5;olfactory receptor OR14-16 APPROVED protein-coding ENSG00000176281 14745 14981 PROVISIONAL 1348493 OR51A1P olfactory receptor, family 51, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5309975 5311242 - 5147863 5149129 - 5191287 5192553 - 1580863 9272169 26537 Q9NSC9 ABBA01028647;AC129505;AMYH01003362;NG_002199;X81445 CAB89291 1810550;1810770;1811074;1832568;1838970;2051968;2051970;2051972;2051974;2051976;2051978;2051980;2051982;2051984;2051986;2051988;2051990;2051992;2051994;2051996;2051998;2052000;2105430;2105432 ECD06268;ECD06383;ECD06535;ECD17424;ECD20664;REN97141;REN97142;REN97143;REN97144;REN97145;REN97146;REN97147;REN97148;REN97149;REN97150;REN97151;REN97152;REN97153;REN97154;REN97155;REN97156;REN97157;stSG610792;stSG610793 HPFH6OR APPROVED pseudo 8316 INFERRED 1348064 OR51A2 olfactory receptor, family 51, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p15.4 4932578 4933519 - 4976002 4976943 - 1580863 401667 Q8NGJ7 AB065797;ABBA01028642;AC018375;AC020597;CS248512;NM_001004748 AAI48563;BAC06016;CAJ56773;NP_001004748;Q8NGJ7 Hs.553805 1802246;1803460;1804068;1810688;1817154;1822594;1837238;2105148;2105150;2105164;2105166;2219318 ECD02007;ECD02627;ECD02951;ECD06339;ECD09627;ECD12385;ECD19786;OR51A4__5858;stSG610642;stSG610643;stSG610650;stSG610651 OTTHUMP00000069569;olfactory receptor 51A2 APPROVED protein-coding ENSG00000205496 14764 17733 PROVISIONAL 1348436 OR51A3P olfactory receptor, family 51, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5082377 5083333 - 4915044 4916200 - 4958568 4959524 - 79532 ABBA01028642;AC018375;AC020597;AMYH01003362;NG_002268 1798360;1807026;1837700;2105134;2105136 ECD00015;ECD04478;ECD20018;stSG610635;stSG610636 APPROVED pseudo 14794 INFERRED 1352360 OR51A5P olfactory receptor, family 51, subfamily A, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5109353 5110318 - 4950637 4951802 - 4994161 4995126 - 79525 ABBA01028642;AC018375;AC020597;AMYH01003362;NG_002263 1810766;1810768;1811454;1817858;2050254;2050256;2050258;2050260;2050262;2050264;2050266;2050268;2050270;2050272;2050274;2050276;2050278;2050280;2050282;2050284;2105178;2105180;2105182;2105184 ECD06381;ECD06382;ECD06727;ECD09983;REN96280;REN96281;REN96282;REN96283;REN96284;REN96285;REN96286;REN96287;REN96288;REN96289;REN96290;REN96291;REN96292;REN96293;REN96294;REN96295;stSG610658;stSG610659;stSG610660;stSG610661 APPROVED pseudo 14801 INFERRED 1353357 OR51A6P olfactory receptor, family 51, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5034606 5035624 - 4867284 4868502 - 4910807 4911825 - 390046 ABBA01028642;AC018375;AMYH01003362;NG_004325 1335397;1804888;1809576;1816552;2105064 D11S2362;ECD03379;ECD05780;ECD09318;stSG610599 APPROVED pseudo 15187 INFERRED 1351442 OR4K2 olfactory receptor, family 4, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 209896 210840 + 19414267 19415211 + 20344427 20345371 + 1580863;6480464 14983052;12477932 390431 Q8NGD2 AB065883;ABBA01061213;AC024399;AL391156;AMYH01005581;BC136941;BC136942;BK004357;CH471078;NM_001005501 AAI36942;AAI36943;BAC06101;DAA04755;EAW66496;NP_001005501;Q8NGD2 Hs.551345 OR14-15 OTTHUMP00000244148;olfactory receptor 4K2;olfactory receptor OR14-15 APPROVED protein-coding ENSG00000165762 14728 14980 PROVISIONAL 1342583 OR4M2 olfactory receptor, family 4, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 q11.2 19869940 19870881 + 22368478 22369561 + 1580863 14983052;12477932 390538 Q8NGB6 AB065903;ABBA01017834;AC134980;AMYH01006364;BC136985;BK004480;NM_001004719 AAI36986;BAC06118;DAA04878;NP_001004719;Q8NGB6 Hs.729625 2110615;2110617 OR4M1__6042.2;OR4M2__6043 OR15-3 OTTHUMP00000246760;olfactory receptor 4M2;olfactory receptor OR15-3 APPROVED protein-coding ENSG00000182974 15373 14984 VALIDATED 1345489 OR51A8P olfactory receptor, family 51, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4977154 4978090 + 4809839 4810975 + 4853363 4854299 + 401662 ABBA01028642;AC103710;AMYH01003362;NG_004387 1800090;1801184;1806872;2105002 ECD00901;ECD01464;ECD04401;stSG610566 APPROVED pseudo 15189 INFERRED 1354033 OR51A9P olfactory receptor, family 51, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4806257 4807155 - 4638538 4639636 - 4682061 4682959 - 390039 ABBA01028642;AC090719;AMYH01003362;NG_004320 APPROVED pseudo 15190 INFERRED 1353482 OR51AB1P olfactory receptor, family 51, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p15.4 5431180 5432064 - 5312697 5313581 - 403265 ABBA01028649;AC104389;AMYH01003362;NG_004424 1795138;1815480;1819650;1829128;2052938;2052940;2052942;2052944;2052946;2052948;2052950;2052952;2052954;2052956;2052958;2105566 ECD08776;ECD10892;ECD15691;PMC99797P1;REN97628;REN97629;REN97630;REN97631;REN97632;REN97633;REN97634;REN97635;REN97636;REN97637;REN97638;stSG610872 APPROVED pseudo 31278 INFERRED 1345725 OR51B3P olfactory receptor, family 51, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5454445 5455395 - 5292451 5293599 - 5335975 5336923 - 11121057 79342 ABBA01028650;AC104389;AMYH01003363;NG_004142 1799446;1799614;1800156;2053142;2053144;2053146;2053148;2053150;2053152;2053154;2053156;2053158;2053160;2053162;2053164;2053166;2053168;2053170;2105598;2105600;2105602;2105604 ECD00574;ECD00661;ECD00935;REN97731;REN97732;REN97733;REN97734;REN97735;REN97736;REN97737;REN97738;REN97739;REN97740;REN97741;REN97742;REN97743;REN97744;REN97745;stSG610889;stSG610890;stSG610891;stSG610892 APPROVED pseudo 14706 INFERRED 1354390 OR4M1 olfactory receptor, family 4, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 113936 114877 + 19318322 19319263 + 20248482 20249423 + 1580863;6480464 14983052;12477932 441670 Q8NGD0 AB065886;ABBA01061213;AC024399;AL512310;AMYH01005581;BC136987;BK004359;CH471078;NM_001005500 AAI36988;BAC06103;DAA04757;EAW66499;NP_001005500;Q8NGD0 Hs.553829 2110615;2110617 OR4M1__6042.2;OR4M2__6043 OR14-7 OTTHUMP00000244114;olfactory receptor 4M1;olfactory receptor OR14-7 APPROVED protein-coding ENSG00000176299 14735 14983 PROVISIONAL 1344920 OR4N4 olfactory receptor, family 4, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 246446 247396 - 19883837 19884787 + 22382473 22383815 + 1580863;6480464 14983052;14702039;12477932 283694 Q8N0Y3 AB065653;AB065904;ABBA01017834;AC134980;AMYH01006364;BC136597;BC136598;BK004406;BK004479;CH878499;NM_001005241 AAI36598;AAI36599;BAC05879;BAC06119;DAA04804;DAA04877;EAW50561;NP_001005241;Q8N0Y3 Hs.525666 OR15-1;OR15-5 OTTHUMP00000246761;olfactory receptor 4N4;olfactory receptor OR15-1;olfactory receptor OR15-5 APPROVED protein-coding 15375 17731 VALIDATED 1350324 OR51B6 olfactory receptor, family 51, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5491224 5492162 + 5329314 5330252 + 5372738 5373676 + 6480464 11121057;10220430;20018918 390058 Q9H340 ABBA01028651;AC104389;AF137396;AMYH01003363;CH471064;NM_001004750 AAG41682;AAI48510;AAI53110;EAW68798;NP_001004750;Q9H340 Hs.553730 1807822;1807900;1808662;1827894;2053436;2053438;2053440;2053442;2053444;2053446;2053448;2053450;2053452;2053454;2053456;2053458;2053460;2053462;2053464;2053466;2105652;2219324 ECD04886;ECD04925;ECD05313;ECD15070;OR51B6__5861;REN97878;REN97879;REN97880;REN97881;REN97882;REN97883;REN97884;REN97885;REN97886;REN97887;REN97888;REN97889;REN97890;REN97891;REN97892;REN97893;stSG610918 HOR5'Beta6 OTTHUMP00000069636;odorant receptor HOR5'beta6;olfactory receptor 51B5;olfactory receptor 51B6 APPROVED protein-coding ENSG00000176239 19600 14994 PROVISIONAL 1349285 OR51B8P olfactory receptor, family 51, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5470285 5471042 - 5308294 5309251 - 5351818 5352575 - 403266 ABBA01028650;AC104389;AMYH01003363;NG_004425 1804204;1834826;1846126;2053272;2053274;2053276;2053278;2053280;2053282;2053284;2053286;2053288;2053290;2053292;2053294;2105626;2105628 ECD03024;ECD18562;ECD24283;REN97796;REN97797;REN97798;REN97799;REN97800;REN97801;REN97802;REN97803;REN97804;REN97805;REN97806;REN97807;stSG610903;stSG610904 APPROVED pseudo 31279 INFERRED 1343067 OR51C1P olfactory receptor, family 51, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4836186 4837127 - 4668467 4669608 - 4711990 4712931 - 401661 Q8NH68 AB065521;ABBA01028642;AC090719;AMYH01003362;NG_004228 OR51C2P;OR51C3P;OST734 APPROVED pseudo 15191 INFERRED 1353212 OR51C4P olfactory receptor, family 51, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4864048 4864995 + 4696318 4697465 + 4739842 4740789 + 390041 ABBA01028642;AC103710;AMYH01003362;NG_004322 APPROVED pseudo 31280 INFERRED 1345327 OR51A4 olfactory receptor, family 51, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5091198 5092139 - 4923965 4924906 - 4967389 4968330 - 1580863;6480464 12477932 401666 Q8NGJ6 AB065798;ABBA01028642;AC018375;AC020597;AMYH01003362;BC140757;CS248508;NM_001005329 AAI40758;BAC06017;CAJ56771;NP_001005329;Q8NGJ6 Hs.555481 1801774;1802246;1803460;1804068;1817154;1822594;1837238;2105148;2105150;2105166;2219318 ECD01768;ECD02007;ECD02627;ECD02951;ECD09627;ECD12385;ECD19786;OR51A4__5858;stSG610642;stSG610643;stSG610651 OTTHUMP00000069574;olfactory receptor 51A4 APPROVED protein-coding ENSG00000205497 14795 14991 PROVISIONAL 1352941 OR51A7 olfactory receptor, family 51, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5052408 5053346 + 4885176 4886114 + 4928600 4929538 + 1580863;6480464 14983052;12477932 119687 Q8NH64 AB065525;ABBA01028642;AC018375;AMYH01003362;BC137062;BC137063;BK004284;CH471064;CS248528;NM_001004749 AAI37063;AAI37064;BAC05773;CAJ56781;DAA04682;EAW68822;NP_001004749;Q8NH64 Hs.553560 1814618;1817388;1824184;2105090;2105092;2219320 ECD08339;ECD09744;ECD13189;OR51A7__5859;stSG610612;stSG610613 OR11-27 OTTHUMP00000069316;olfactory receptor 51A7;olfactory receptor OR11-27 APPROVED protein-coding ENSG00000176895 15188 14992 PROVISIONAL 1351923 OR51B2 olfactory receptor, family 51, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 5462998 5464052 - 5301104 5302158 - 5344528 5345582 - 1580863;6480464 12477932;12213199;11121057;10220430 79345 Q17R53;Q9Y5P1 ABBA01028650;AC104389;AF137396;AF149710;AF399503;AMYH01003363;BC117461;CH471064;NM_033180 AAD29425;AAI17462;AAK94988;ADR82912;EAW68800;NP_149420;Q9Y5P1 Hs.680163 1794486;1805662;1815966;1816128;1839212;2053212;2053214;2053216;2053218;2053220;2053222;2053224;2053226;2053228;2053230;2053232;2053234;2053236;2053238;2105612;2105614;5492451;5492955 ECD03781;ECD09023;ECD09104;ECD20786;PMC316536P1;REN97766;REN97767;REN97768;REN97769;REN97770;REN97771;REN97772;REN97773;REN97774;REN97775;REN97776;REN97777;REN97778;REN97779;UniSTS:481103;UniSTS:483419;stSG610896;stSG610897 HOR5'Beta3;OR51B1P OTTHUMP00000069647;odorant receptor HOR5'beta3;olfactory receptor 51B1;olfactory receptor 51B2 APPROVED protein-coding ENSG00000184881 14703 17734 VALIDATED 1353833 OR51F1 olfactory receptor, family 51, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4914312 4915249 - 4746785 4747723 - 4790209 4791147 - 6480464 14983052;12644552 256892 A6NGY5;A6NLW9 ABBA01028642;AC103710;AF546560;AMYH01003362;BK004771;NM_001004752 A6NGY5;NP_001004752 Hs.553659 1801182;1802294;2104918;2219328 ECD01463;ECD02031;OR51F1__5863;stSG610523 OR11-21;OR51F1P OTTHUMP00000069317;olfactory receptor 51F1;olfactory receptor OR11-21 pseudogene;olfactory receptor, family 51, subfamily F, member 1 pseudogene APPROVED protein-coding ENSG00000188069 15196 17737 PROVISIONAL 1343909 OR51B5 olfactory receptor, family 51, subfamily B, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5482287 5483225 - 5320392 5321330 - 5362113 5368140 - 6480464 11121057;14983052;10220430;12477932;20018918 282763 Q05CQ2;Q9H339 ABBA01028650;ABBA01028651;AC104389;AF137396;AMYH01003363;BC022184;BC136707;BC136708;BG493214;BG776801;BK004430;CH471064;NM_001005567;NR_038321 AAG41683;AAH22184;AAI36708;AAI36709;DAA04828;EAW68799;NP_001005567;Q9H339 Hs.690458 1802668;1806184;1806518;2053372;2053374;2053376;2053378;2053380;2053382;2053384;2053386;2053388;2053390;2053392;2053394;2053396;2053398;2105642 ECD02221;ECD04047;ECD04216;REN97846;REN97847;REN97848;REN97849;REN97850;REN97851;REN97852;REN97853;REN97854;REN97855;REN97856;REN97857;REN97858;REN97859;stSG610912 HOR5'Beta5;OR11-37 OTTHUMP00000069643;odorant receptor HOR5'beta5;olfactory receptor 51B5;olfactory receptor OR11-37 APPROVED protein-coding 19599 14993 VALIDATED 1353578 OR51F3P olfactory receptor, family 51, subfamily F, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4881614 4882514 - 4713884 4714984 - 4757407 4758307 - 390043 ABBA01028642;AC103710;AMYH01003362;NG_004323 APPROVED pseudo 31281 INFERRED 1353480 OR51F4P olfactory receptor, family 51, subfamily F, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4897478 4898376 - 4729752 4730850 - 4773275 4774173 - 390044 ABBA01028642;AC103710;AMYH01003362;NG_004324 1827980;1830194;2104896 ECD15113;ECD16230;stSG610511 APPROVED pseudo 31282 INFERRED 1348115 OR51F5P olfactory receptor, family 51, subfamily F, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4854997 4855938 + 4687275 4688416 + 4730799 4731740 + 390040 ABBA01028642;AC103710;AMYH01003362;NG_004321 APPROVED pseudo 31283 INFERRED 1353376 OR4X2 olfactory receptor, family 4, subfamily X, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p11.2 48416623 48417534 + 48223232 48224143 + 48266656 48267567 + 1580863;6480464 12213199;14983052;12477932 119764 Q8NGF9 AB065847;ABBA01060679;AC026975;AF399580;AMYH01003557;BC136935;BC136936;BK004389;CH471064;CS248258;NM_001004727 AAI36936;AAI36937;AAK95065;BAC06065;CAJ56653;DAA04787;EAW67871;NP_001004727;Q8NGF9 Hs.553565 OR11-105 OTTHUMP00000229339;olfactory receptor 4X2;olfactory receptor OR11-105 APPROVED protein-coding ENSG00000172208 15184 14990 PROVISIONAL 1344581 OR51D1 olfactory receptor, family 51, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4785136 4786259 + 4617597 4618571 + 4660945 4662068 + 1580863 14983052;12732197;12477932 390038 Q8NGF3 AB065855;ABBA01028642;AC090719;AMYH01003362;BC140717;BK004370;CH471064;CS248544;NM_001004751 AAI40718;BAC06073;CAJ56789;DAA04768;EAW68833;NP_001004751;Q8NGF3 Hs.553728 2219326 OR51D1__5862 OR11-14;OR51D1Q OTTHUMP00000230832;olfactory receptor 51D1;olfactory receptor OR11-14 APPROVED protein-coding ENSG00000197428 15193 14995 VALIDATED 1353617 OR51H1P olfactory receptor, family 51, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5004648 5005592 - 4837326 4838470 - 4880849 4881793 - 6480464 14983052 401663 Q8NH63 AB065527;ABBA01028642;AC011711;AMYH01003362;BK004279;CH471064;NG_004388 BAC05774;DAA04677;EAW68824;Q8NH63 1803874;1803976;2105022;2105024 ECD02850;ECD02903;stSG610577;stSG610578 OR51H1 APPROVED pseudo 14833 INFERRED 1353970 OR51H2P olfactory receptor, family 51, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5021585 5022533 + 4854263 4855409 + 4897787 4898733 + 401664 ABBA01028642;AC011711;AMYH01003362;NG_004389 1804394;1805858;1809250;2105040;2105042 ECD03121;ECD03882;ECD05615;stSG610587;stSG610588 APPROVED pseudo 15199 INFERRED 1344392 OR51B4 olfactory receptor, family 51, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 5440727 5441659 - 5278820 5279752 - 5322244 5323176 - 1580863;6480464 11121057;15489334;12477932;10220430 79339 A4FU14;Q9Y5P0 ABBA01028649;AC104389;AF137396;AMYH01003362;BC069094;BC100919;BC148186;BC153815;CH471064;NM_033179 AAD29426;AAH69094;AAI00920;AAI48187;AAI53816;EAW68801;NP_149419;Q9Y5P0 Hs.679499 1804700;1805012;1817222;1829624;2053016;2053018;2053020;2053022;2053024;2053026;2053028;2053030;2053032;2053034;2053036;2053038;2053040;2053042;2105578;2219322;5493937 ECD03282;ECD03447;ECD09661;ECD15944;OR51B4__5860;REN97668;REN97669;REN97670;REN97671;REN97672;REN97673;REN97674;REN97675;REN97676;REN97677;REN97678;REN97679;REN97680;REN97681;UniSTS:480443;stSG610879 HOR5'Beta1 OTTHUMP00000069634;odorant receptor HOR5'beta1;olfactory receptor 51B4 APPROVED protein-coding ENSG00000183251 14708 17735 VALIDATED 1317227 OR51F2 olfactory receptor, family 51, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4966407 4967435 + 4799192 4800220 + 4842616 4843644 + 14983052;12477932 119694 Q8NH61 AB065529;ABBA01028642;AC103710;AMYH01003362;BC136877;BK004281;CH471064;CS248514;NM_001004753 AAI36878;BAC05776;CAJ56774;DAA04679;EAW68826;NP_001004753;Q8NH61 Hs.553562 1813802;1814992;1820220;1839260;2104984;2104986 ECD07926;ECD08527;ECD11184;ECD20810;stSG610556;stSG610557 OR11-23 OTTHUMP00000069320;olfactory receptor 51F2;olfactory receptor OR11-23 APPROVED protein-coding ENSG00000176925 15197 17738 PROVISIONAL 1349282 OR51J1 olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5542195 5543369 + 5380303 5381477 + 5423727 5424901 + 6480464 11121057 79470 Q9H342 ABBA01028651;AC026083;AC104389;AMYH01003363;NG_002252 Q9H342 1804018;1808880;1821860;1822716;2053786;2053788;2053790;2053792;2053794;2053796;2053798;2053800;2053802;2053804;2053806;2053808;2053810;2053812;2105710;2105712;2105714 ECD02925;ECD05423;ECD12016;ECD12446;REN98053;REN98054;REN98055;REN98056;REN98057;REN98058;REN98059;REN98060;REN98061;REN98062;REN98063;REN98064;REN98065;REN98066;stSG610948;stSG610949;stSG610950 OR51J1P;OR51J2 APPROVED pseudo 14856 INFERRED 1344394 OR51K1P olfactory receptor, family 51, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5570375 5571321 - 5408362 5409508 - 5451886 5452832 - 81278 ABBA01028651;AC087380;AMYH01003363;NG_004226 1762647;1805014;1807220;1822978;2053994;2053996;2053998;2054000;2054002;2054004;2054006;2054008;2054010;2054012;2054014;2054016;2054018;2054020;2105744;2105746 ECD03448;ECD04578;ECD12577;REN98159;REN98160;REN98161;REN98162;REN98163;REN98164;REN98165;REN98166;REN98167;REN98168;REN98169;REN98170;REN98171;REN98172;SHGC-146449;stSG610967;stSG610968 APPROVED pseudo 15202 INFERRED 1351753 OR51G2 olfactory receptor, family 51, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5059757 5060701 - 4892525 4893469 - 4935949 4936893 - 1580863 14983052;12908129;12477932 81282 Q8NGK0 AB065794;ABBA01028642;AC018375;AMYH01003362;AY284517;BC136830;BC136831;BK004285;CH471064;CS248520;NM_001005238 AAI36831;AAI36832;BAC06013;CAJ56777;DAA04683;EAW68821;NP_001005238;Q8NGK0 Hs.542302 1812374;1813094;1828778;2105102;2105104 ECD07194;ECD07566;ECD15516;stSG610619;stSG610620 OR11-28 OTTHUMP00000069315;olfactory receptor 51G2;olfactory receptor OR11-28 APPROVED protein-coding ENSG00000176893 15198 14998 PROVISIONAL 1343610 OR51L1 olfactory receptor, family 51, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5135404 5136351 + 4976789 4977736 + 5020213 5021160 + 1580863;6480464 14983052;23406172 119682 Q8NGJ5 AB065799;ABBA01028642;AC018375;AC020597;AMYH01003362;BK004317;CH471064;CS248510;NM_001004755 AAI41572;AAI46585;BAC06018;CAJ56772;DAA04715;EAW68816;NP_001004755;Q8NGJ5 Hs.553559 1815416;1817294;1818152;2050472;2050474;2050476;2050478;2050480;2050482;2050484;2050486;2050488;2050490;2050492;2050494;2050496;2050498;2050500;2105220;2105222;2219330 ECD08744;ECD09697;ECD10133;OR51L1__5867;REN96389;REN96390;REN96391;REN96392;REN96393;REN96394;REN96395;REN96396;REN96397;REN96398;REN96399;REN96400;REN96401;REN96402;REN96403;stSG610679;stSG610680 OR11-31 OTTHUMP00000069571;olfactory receptor 51L1;olfactory receptor OR11-31 APPROVED protein-coding ENSG00000176798 14759 11810 PROVISIONAL 1348713 OR51N1P olfactory receptor, family 51, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4931773 4932721 + 4764460 4765608 + 4807984 4808932 + 119696 ABBA01028642;AC103710;AMYH01003362;NG_004281 1818804;1820056;1827222;1827798;2104934;2104936 ECD10466;ECD11101;ECD14726;ECD15022;stSG610531;stSG610532 APPROVED pseudo 14757 INFERRED 1351447 OR51P1P olfactory receptor, family 51, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5151454 5152605 + 4992836 4993987 + 5036260 5037411 + 79300 ABBA01028642;AC020597;AC113331;AMYH01003362;NG_002232 1817552;1822096;1841022;2050616;2050618;2050620;2050622;2050624;2050626;2050628;2050630;2050632;2050634;2050636;2050638;2050640;2050642;2105246;2105248;2105250 ECD09826;ECD12134;ECD21704;REN96461;REN96462;REN96463;REN96464;REN96465;REN96466;REN96467;REN96468;REN96469;REN96470;REN96471;REN96472;REN96473;REN96474;stSG610693;stSG610694;stSG610695 OR51P2P APPROVED pseudo 14762 INFERRED 736827 OR51E2 olfactory receptor, family 51, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p15 4657977 4675648 - 4701401 4719076 - 1580863;6480464 19389702;16491480;16231015;16149059;15499628;15489334;14983052;12477932;11707321;11593396;11181995;11118034;7566098 81285 E9PPJ8;Q9H255 ABBA01028642;AC090719;AC105936;AF311306;AF369708;AK314051;AMYH01003362;AY033942;BC020768;BK004368;CH471064;CS248536;NM_030774 AAG40776;AAH20768;AAK38728;AAK57550;ABM83628;ABM86872;BAG36760;CAJ56785;DAA04766;EAW68829;EAW68831;NP_110401;Q9H255 Hs.501758;Hs.606330 1675066;1722225;1782456;1782460;2111986;2150006 D11S2420;D11S4892;G60018;RH48171;SHGC-155536;SHGC-155730 OR51E3P;OR52A2;PSGR HPRAJ;OTTHUMP00000164514;olfactory receptor 51E2;olfactory receptor 78;olfactory receptor OR11-16;olfactory receptor, family 51, subfamily E, member 3 pseudogene;olfactory receptor, family 52, subfamily A, member 2;prostate specific G-protein coupled receptor;prostate-specific G-protein coupled receptor APPROVED protein-coding ENSG00000167332 15195 17736 611268 VALIDATED 1350679 OR51R1P olfactory receptor, family 51, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4563489 4564437 + 4395766 4396914 + 4439290 4440238 + 390034 ABBA01028639;AC009758;AMYH01003359;NG_004318 APPROVED pseudo 15203 INFERRED 1345426 OR51G1 olfactory receptor, family 51, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5068414 5069379 - 4901180 4902145 - 4944604 4945569 - 1580863;6480464 14983052;12477932;20379614;21628590 79324 Q8NGK1 AB065793;ABBA01028642;AC018375;AC020597;AMYH01003362;BC136852;BC136861;BK004286;CH471064;NM_001005237 AAI36853;AAI36862;BAC06012;DAA04684;EAW68820;NP_001005237;Q8NGK1 Hs.554541 1803130;1808026;1831930;2105116;2105118;2121699 D11S1021;ECD02456;ECD04991;ECD17103;stSG610626;stSG610627 OR11-29;OR51G3P OTTHUMP00000069394;olfactory receptor 51G1;olfactory receptor 51G3;olfactory receptor OR11-29 APPROVED protein-coding ENSG00000176879 14738 14997 PROVISIONAL 1349575 OR51I1 olfactory receptor, family 51, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5580260 5581271 - 5418376 5419320 - 5461772 5462783 - 6480464 11121057;14983052;10220430;12477932;23406172 390063 Q9H343 ABBA01028651;AC087380;AF137396;AMYH01003363;BC151148;BK004429;CH471064;CS248488;NM_001005288 AAG41679;AAI51149;CAJ56761;DAA04827;EAW68794;NP_001005288;Q9H343 Hs.553732 1802130;1802300;2054082;2054084;2054086;2054088;2054090;2054092;2054094;2054096;2054098;2054100;2054102;2054104;2054106;2054108;2054110;2105760;2105762 ECD01947;ECD02034;REN98203;REN98204;REN98205;REN98206;REN98207;REN98208;REN98209;REN98210;REN98211;REN98212;REN98213;REN98214;REN98215;REN98216;REN98217;stSG610975;stSG610976 HOR5'Beta11;OTTHUMP00000069828;odorant receptor HOR5'beta11;olfactory receptor 51I1;olfactory receptor OR11-39 APPROVED protein-coding ENSG00000167359 15200 14999 VALIDATED 1352520 OR51T1 olfactory receptor, family 51, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5026849 5027913 + 4859625 4860689 + 4903049 4904113 + 6480464 14983052 401665 Q8NGJ9 AB065795;ABBA01028642;AC011711;AMYH01003362;BK004283;CH471064;NM_001004759 AAI56308;AAI72458;BAC06014;DAA04681;EAW68823;NP_001004759;Q8NGJ9 Hs.553804 1799398;1821800;1825840;2105048;2105050 ECD00550;ECD11986;ECD14028;stSG610591;stSG610592 OR11-26 OTTHUMP00000069319;olfactory receptor 51T1;olfactory receptor OR11-26 APPROVED protein-coding ENSG00000176900 15205 17740 PROVISIONAL 1343262 OR51V1 olfactory receptor, family 51, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5339640 5340605 - 5177541 5178506 - 5220965 5221930 - 6480464 11121057;14983052 283111 Q9H2C8 ABBA01028649;AC104389;AF289203;AMYH01003362;BK004432;CH471064;NM_001004760 AAG42364;AAI56855;DAA04830;EAW68807;NP_001004760;Q9H2C8 Hs.553670 1801968;1802128;1802370;2052194;2052196;2052198;2052200;2052202;2052204;2052206;2052208;2052210;2052212;2052214;2052216;2052218;2052220;2105458;2105460 ECD01865;ECD01946;ECD02069;REN97254;REN97255;REN97256;REN97257;REN97258;REN97259;REN97260;REN97261;REN97262;REN97263;REN97264;REN97265;REN97266;REN97267;stSG610810;stSG610811 OR11-36;OR51A12 OTTHUMP00000069637;odorant receptor HOR3'beta1;olfactory receptor 51A12;olfactory receptor 51V1;olfactory receptor OR11-36 APPROVED protein-coding ENSG00000176742 19597 17741 VALIDATED 1605574 OR51E1 olfactory receptor, family 51, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4789349 4800914 + 4630136 4631485 + 4665156 4676718 + 6480464 16491480;16206286;15489334;15313197;14983052;14702039;12732197;12477932;7566098;23184910 143503 E9PKL6;Q8TCB6 AB065787;ABBA01028642;AC090719;AK023643;AK293091;AL833127;AMYH01003362;AY698056;AY775731;BC022401;BK004369;CH471064;CS248538;NM_152430 AAH22401;AAU07996;AAV54110;BAC06006;BAF85780;CAJ56786;DAA04767;EAW68832;NP_689643;Q8TCB6 Hs.470038 2184665 D11S1088 D-GPCR;FLJ13581;GPR136;GPR164;MGC24137;OR51E1P;OR52A3P;POGR;PSGR2 Dresden-G-protein-coupled receptor;G-protein coupled receptor 164;OTTHUMP00000211320;olfactory receptor 51E1;olfactory receptor 52A3;olfactory receptor OR11-15;olfactory receptor, family 51, subfamily E, member 1 pseudogene;olfactory receptor, family 52, subfamily A, member 3 pseudogene;prostate overexpressed G protein-coupled receptor;prostate-overexpressed G protein-coupled receptor;prostate-specific G protein-coupled receptor 2 APPROVED protein-coding ENSG00000180785 15194 14996 611267 VALIDATED 1344467 OR52A5 olfactory receptor, family 52, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5268072 5269022 - 5109498 5110448 - 5152922 5153872 - 11121057;14983052 390054 Q9H2C5 ABBA01028645;AC129505;AF289204;AMYH01003362;AY726590;BK004433;CH471064;NM_001005160 AAG42368;AAI41495;DAA04831;EAW68809;NP_001005160;Q9H2C5 Hs.546593 1805718;1830062;1832072;1846404;2051680;2051682;2051684;2051686;2051688;2051690;2051692;2051694;2051696;2051698;2051700;2051702;2051704;2051706;2105394;2219334 ECD03809;ECD16164;ECD17174;ECD24422;OR52A5__5874;REN96993;REN96994;REN96995;REN96996;REN96997;REN96998;REN96999;REN97000;REN97001;REN97002;REN97003;REN97004;REN97005;REN97006;stSG610771 OR11-33 OTTHUMP00000069575;odorant receptor HOR3'beta5;olfactory receptor 52A5;olfactory receptor OR11-33 APPROVED protein-coding ENSG00000171944 19580 15005 VALIDATED 1348903 OR52B1P olfactory receptor, family 52, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6292337 6293291 - 6129301 6130455 - 6172825 6173779 - 81274 ABBA01028662;AC022762;AMYH01003366;NG_004225 APPROVED pseudo 15206 INFERRED 1346805 OR51I2 olfactory receptor, family 51, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5593120 5594189 + 5431295 5432233 + 5474638 5475707 + 6480464 11121057;14983052;10220430;12477932;23406172 390064 Q9H344 ABBA01028651;AC087380;AF137396;AMYH01003363;BC140730;BK004381;CH471064;CS248486;NM_001004754 AAG41678;AAI40731;CAJ56760;DAA04779;EAW68793;NP_001004754;Q9H344 Hs.553733 1814620;1814688;1822298;1826688;2054182;2054184;2054186;2054188;2054190;2054192;2054194;2054196;2054198;2054200;2054202;2054204;2054206;2105778;2105780;2108855 ECD08340;ECD08375;ECD12237;ECD14458;OR51I2__5866.2;REN98253;REN98254;REN98255;REN98256;REN98257;REN98258;REN98259;REN98260;REN98261;REN98262;REN98263;REN98264;REN98265;stSG610984;stSG610985 OR11-38 HOR5'Beta12;OTTHUMP00000069821;odorant receptor HOR5'beta12;olfactory receptor 51I2;olfactory receptor OR11-38 APPROVED protein-coding ENSG00000187918 15201 15000 VALIDATED 1350318 OR52B3P olfactory receptor, family 52, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4523712 4524654 + 4355988 4357130 + 4399512 4400454 + 387747 ABBA01028638;AC009758;AMYH01003359;NG_004311 APPROVED pseudo 15208 INFERRED 1349567 OR51M1 olfactory receptor, family 51, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5529075 5530132 + 5367205 5368185 + 5410607 5411664 + 6480464 11121057;14983052;10220430;12477932 390059 B2RNI9;Q9H341 ABBA01028651;AC026083;AC104389;AF137396;AMYH01003363;BC136912;BC136913;BK004382;CH471064;CS248490;NM_001004756 AAG41681;AAI36913;AAI36914;CAJ56762;DAA04780;EAW68797;NP_001004756;Q9H341 Hs.553731 1817554;1817994;2053682;2053684;2053686;2053688;2053690;2053692;2053694;2053696;2053698;2053700;2053702;2053704;2053706;2053708;2053710;2053712;2105692;2105694 ECD09827;ECD10052;REN98001;REN98002;REN98003;REN98004;REN98005;REN98006;REN98007;REN98008;REN98009;REN98010;REN98011;REN98012;REN98013;REN98014;REN98015;REN98016;stSG610939;stSG610940 HOR5'Beta7;OR11-40 OTTHUMP00000069645;odorant receptor HOR5'beta7;olfactory receptor 51M1;olfactory receptor OR11-40 APPROVED protein-coding ENSG00000184698 14847 15002 VALIDATED 1350568 OR52B5P olfactory receptor, family 52, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5700799 5701743 + 5538673 5539817 + 5582197 5583141 + 81270 ABBA01028652;AC015691;AMYH01003364;NG_004224 1812748;1813324;1819516;1821944;2055066;2055068;2055070;2055072;2055074;2055076;2055078;2055080;2055082;2055084;2055086;2055088;2055090;2055092;2105934;2105936 ECD07385;ECD07683;ECD10825;ECD12058;REN98695;REN98696;REN98697;REN98698;REN98699;REN98700;REN98701;REN98702;REN98703;REN98704;REN98705;REN98706;REN98707;REN98708;stSG611063;stSG611064 APPROVED pseudo 15210 INFERRED 1351225 OR52B6 olfactory receptor, family 52, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5720726 5721733 + 5558683 5559690 + 5602107 5603114 + 14983052 340980 Q8NGF0 AB065858;ABBA01028652;AC015691;AMYH01003364;BK004275;NM_001005162 BAC06076;DAA04673;NP_001005162;Q8NGF0 Hs.553704 1800856;1838208;1844800;2055236;2055238;2055240;2055242;2055244;2055246;2055248;2055250;2055252;2055254;2055256;2055258;2105958;2105960 ECD01293;ECD20276;ECD23616;REN98782;REN98783;REN98784;REN98785;REN98786;REN98787;REN98788;REN98789;REN98790;REN98791;REN98792;REN98793;stSG611077;stSG611078 OR11-47 OTTHUMP00000069827;olfactory receptor 52B6;olfactory receptor OR11-47 APPROVED protein-coding ENSG00000187747 15211 17743 VALIDATED 1347125 OR52A4 olfactory receptor, family 52, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. Although originally considered to be a functional olfactory receptor, this family member is now considered to be pseudogene due to the presence of a C-terminal frameshift compared to other family members; this is also consistent with the Classifier for Olfactory Receptor Pseudogenes (CORP), as described in PMID:16939646. [provided by RefSeq, Jun 2011] 11 11 11 p15.4 5256998 5257996 - 5098470 5099384 - 5141894 5142808 - 12477932;16939646 390053 A6NMU1 ABBA01028644;AC113331;AMYH01003362;BC140752;NG_029079 A6NMU1;AAI40753 Hs.553729 1798692;1801866;1824876;2051578;2051580;2051582;2051584;2051586;2051588;2051590;2051592;2051594;2051596;2051598;2051600;2051602;2051604;2051606;2105378;2105380 ECD00186;ECD01814;ECD13537;REN96942;REN96943;REN96944;REN96945;REN96946;REN96947;REN96948;REN96949;REN96950;REN96951;REN96952;REN96953;REN96954;REN96955;REN96956;stSG610762;stSG610763 putative olfactory receptor 52A4 APPROVED pseudo 19579 15004 INFERRED 1346521 OR52E1 olfactory receptor, family 52, subfamily E, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5205905 5207030 + 5047278 5048402 + 5090702 5091826 + 6480464 79296 Q8NGJ3 AB065801;ABBA01028642;AC020597;AC113331;AMYH01003362;NG_003197 BAC06020;Q8NGJ3 1803462;1806622;1809318;1840660;2051096;2051098;2051100;2051102;2051104;2051106;2051108;2051110;2051112;2051114;2051116;2051118;2051120;2051122;2051124;2105310;2105312 ECD02628;ECD04268;ECD05650;ECD21520;REN96701;REN96702;REN96703;REN96704;REN96705;REN96706;REN96707;REN96708;REN96709;REN96710;REN96711;REN96712;REN96713;REN96714;REN96715;stSG610726;stSG610727 OR52E1P olfactory receptor, family 52, subfamily e, member 1 gene/pseudogene APPROVED pseudo 14766 INFERRED 1347048 OR52E2 olfactory receptor, family 52, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5195088 5196065 - 5036456 5037433 - 5079880 5080857 - 1580863 14983052 119678 Q8NGJ4 AB065800;ABBA01028642;AC113331;AMYH01003362;CH471064;NM_001005164 BAC06019;EAW68812;NP_001005164;Q8NGJ4 Hs.553557 1799914;1801966;1841570;2051014;2051016;2051018;2051020;2051022;2051024;2051026;2051028;2051030;2051032;2051034;2051036;2051038;2051040;2051042;2051324;2105296;2105298 ECD00811;ECD01864;ECD21982;REN96660;REN96661;REN96662;REN96663;REN96664;REN96665;REN96666;REN96667;REN96668;REN96669;REN96670;REN96671;REN96672;REN96673;REN96674;REN96815;stSG610718;stSG610719 OTTHUMP00000069572;olfactory receptor 52E2;olfactory receptor, family 10, subfamily AC, member 1 pseudogene APPROVED protein-coding ENSG00000176787 14769 15009 VALIDATED 1346155 OR52E3P olfactory receptor, family 52, subfamily E, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5228870 5229844 + 5070382 5071556 + 5113906 5114880 + 79533 ABBA01028643;AC020597;AC113331;AMYH01003362;NG_002269 1813394;1817732;1831210;1834938;2051306;2051308;2051310;2051312;2051314;2051316;2051318;2051320;2051322;2051324;2051326;2051328;2051330;2051332;2051334;2105342;2105344 ECD07718;ECD09919;ECD16741;ECD18620;REN96806;REN96807;REN96808;REN96809;REN96810;REN96811;REN96812;REN96813;REN96814;REN96815;REN96816;REN96817;REN96818;REN96819;REN96820;stSG610743;stSG610744 APPROVED pseudo 14793 INFERRED 1343317 OR51Q1 olfactory receptor, family 51, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5561830 5562925 + 5400007 5400960 + 5443341 5444436 + 1580863;6480464 16554811;12477932 390061 Q8NH59 AB065531;ABBA01028651;AC026083;AC087380;AMYH01003363;BC136999;CH471064;CS248492;NM_001004757 AAI37000;BAC05778;CAJ56763;EAW68795;NP_001004757;Q8NH59 Hs.528592 1805944;1812378;1812582;1845654;2053906;2053908;2053910;2053912;2053914;2053916;2053918;2053920;2053922;2053924;2053926;2053928;2053930;2053932;2053934;2105730;2105732 ECD03925;ECD07196;ECD07301;ECD24045;REN98115;REN98116;REN98117;REN98118;REN98119;REN98120;REN98121;REN98122;REN98123;REN98124;REN98125;REN98126;REN98127;REN98128;REN98129;stSG610960;stSG610961 OTTHUMP00000069816;olfactory receptor 51Q1 APPROVED protein-coding ENSG00000167360 14851 15003 VALIDATED 1344315 OR52E5 olfactory receptor, family 52, subfamily E, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6041578 6042726 + 5878583 5879731 + 5922007 5923155 + 1580863;6480464 14983052 390082 Q8NH55 AB065536;ABBA01028658;AC025016;AC131574;AMYH01003366;BK004566;NG_005911 BAC05782;Q8NH55 OR11-56 APPROVED pseudo 15214 15011 INFERRED 1347309 OR52B2 olfactory receptor, family 52, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6310097 6311068 - 6147161 6148132 - 6190585 6191556 - 6480464 14983052;12213199;12477932 255725 Q8NG91;Q96RD2 AB065763;AB065939;ABBA01028662;AC022762;AF399505;AMYH01003366;BC136732;BC136733;BK004324;CH471064;CS248472;NM_001004052 AAI36733;AAI36734;AAK94990;BAC05983;BAC06154;CAJ56756;DAA04722;EAW68744;NP_001004052;Q96RD2 Hs.690457 2219336 OR52B2__5875 OR11-70 OTTHUMP00000230843;olfactory receptor 52B2;olfactory receptor OR11-70 APPROVED protein-coding ENSG00000255307 15207 15006 PROVISIONAL 1352285 OR52E7P olfactory receptor, family 52, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6014260 6015188 + 5851666 5852794 + 5895190 5896118 + 81264 ABBA01028656;ABBA01028657;AC131574;AMYH01003366;NG_004223 APPROVED pseudo 15216 INFERRED 1343147 OR52E6 olfactory receptor, family 52, subfamily E, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5981160 5982101 - 5818762 5819703 - 5862186 5863127 - 1580863 14983052;12213199;20677014 390078 J3KPH0;Q96RD3 AB065815;ABBA01028656;AC131574;AF399504;AMYH01003365;BK004304;CH471064;CS248464;NM_001005167 AAK94989;BAC06034;CAJ56752;DAA04702;EAW68758;NP_001005167;Q96RD3 Hs.534693 OR11-58 OTTHUMP00000239502;olfactory receptor 52E6;olfactory receptor OR11-58 APPROVED protein-coding ENSG00000205409 15215 15012 PROVISIONAL 1342762 OR52A1 olfactory receptor, family 52, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 5287805 5288743 - 5129237 5130175 - 5172661 5173599 - 1580863;6480464 10512676;15489334;14983052;12477932;11121057;20201926 23538 Q9UKL2 ABBA01028645;AC129505;AF154673;AF289204;AMYH01003362;BC111691;BC111722;BK004431;CH471064;NG_027733;NM_012375 AAD51279;AAG42367;AAI11723;AAI40284;DAA04829;EAW68808;NP_036507;Q9UKL2 Hs.553520 1801500;1804496;1804572;2051846;2051848;2051850;2051852;2051854;2051856;2051858;2051860;2051862;2051864;2051866;2051868;2051870;2051872;2105416;2105418;5492585 ECD01626;ECD03177;ECD03217;REN97076;REN97077;REN97078;REN97079;REN97080;REN97081;REN97082;REN97083;REN97084;REN97085;REN97086;REN97087;REN97088;REN97089;UniSTS:481720;stSG610785;stSG610786 HPFH1OR OTTHUMP00000069570;odorant receptor HOR3'beta4;olfactory receptor 52A1;olfactory receptor OR11-319 APPROVED protein-coding ENSG00000182070 8318 17742 VALIDATED 1346583 OR52H2P olfactory receptor, family 52, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5691478 5692409 - 5529371 5530502 - 5572895 5573826 - 81261 ABBA01028652;AC087380;AMYH01003364;NG_004222 1803316;1806242;1835362;2054994;2054996;2054998;2055000;2055002;2055004;2055006;2055008;2055010;2055012;2055014;2055016;2055018;2055020;2055022;2105922;2105924 ECD02554;ECD04076;ECD18836;REN98659;REN98660;REN98661;REN98662;REN98663;REN98664;REN98665;REN98666;REN98667;REN98668;REN98669;REN98670;REN98671;REN98672;REN98673;stSG611057;stSG611058 APPROVED pseudo 15219 INFERRED 1347151 OR51S1 olfactory receptor, family 51, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4993267 4994238 - 4826043 4827014 - 4869467 4870438 - 1580863;6480464 14983052;12477932 119692 Q8NGJ8 AB065796;ABBA01028642;AC011711;AC103710;AMYH01003362;BC136932;BC136934;BK004280;CH471064;CS248554;NM_001004758 AAI36933;AAI36935;BAC06015;CAJ56794;DAA04678;EAW68825;NP_001004758;Q8NGJ8 Hs.553561 1812442;1813232;1842052;1858660;2105016;2105018;2219332 ECD07228;ECD07636;ECD22229;ECD24531;OR51S1__5870;stSG610573;stSG610574 OR11-24 OTTHUMP00000069318;olfactory receptor 51S1;olfactory receptor OR11-24 APPROVED protein-coding ENSG00000176922 15204 17739 PROVISIONAL 1349331 OR52I1 olfactory receptor, family 52, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4739475 4740449 + 4571845 4572819 + 4615269 4616243 + 1580863 14983052;12732197;19795399 390037 J3KQU7;Q8NGK6 AB065788;ABBA01028641;AC090719;AMYH01003361;BK004371;CH471064;CS248542;NM_001005169 AAI48541;AAI53132;BAC06007;CAJ56788;DAA04769;EAW68836;NP_001005169;Q8NGK6 Hs.553727 1707886;2219346 OR52I1__5885;SHGC-82187 OR11-13 OTTHUMP00000230827;olfactory receptor 52I1;olfactory receptor OR11-13 APPROVED protein-coding ENSG00000232268 15220 15015 VALIDATED 1351984 OR52J1P olfactory receptor, family 52, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5240419 5241288 + 5081930 5082999 + 5125454 5126323 + 79302 ABBA01028643;AC113331;AMYH01003362;NG_002234 1804494;1805272;1829774;2051412;2051414;2051416;2051418;2051420;2051422;2051424;2051426;2051428;2051430;2051432;2051434;2051436;2051438;2051440;2105364 ECD03176;ECD03582;ECD16019;REN96859;REN96860;REN96861;REN96862;REN96863;REN96864;REN96865;REN96866;REN96867;REN96868;REN96869;REN96870;REN96871;REN96872;REN96873;stSG610754 APPROVED pseudo 14760 INFERRED 1316140 OR52B4 olfactory receptor, family 52, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4512675 4513798 - 4345157 4346101 - 4388493 4389616 - 1580863;6480464 14983052;12477932;20677014 143496 Q8NGK2 AB065792;ABBA01028638;AC009758;AMYH01003359;BC140928;BK004256;CH471064;NM_001005161 AAI40929;BAC06011;DAA04654;EAW68847;NP_001005161;Q8NGK2 Hs.447463 2219338 OR52B4__5876 OR11-3 OTTHUMP00000205331;olfactory receptor 52B4;olfactory receptor OR11-3 APPROVED protein-coding ENSG00000221996 15209 15007 VALIDATED 1342965 OR52J2P olfactory receptor, family 52, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 p15.4 5014722 5015880 + 5058146 5059304 + 79529 ABBA01028642;AC020597;AC113331;AMYH01003362;NG_002266 1723135;1808380;1812446;1813174;1814556;2050808;2050810;2050812;2050814;2050816;2050818;2050820;2050822;2050824;2050826;2050828;2050830;2050832;2050834;2050836;2050838;2105264;2105266 ECD05171;ECD07230;ECD07607;ECD08308;REN96557;REN96558;REN96559;REN96560;REN96561;REN96562;REN96563;REN96564;REN96565;REN96566;REN96567;REN96568;REN96569;REN96570;REN96571;REN96572;RH123751;stSG610702;stSG610703 OR52J4P APPROVED pseudo 14797 INFERRED 1353752 OR52J3 olfactory receptor, family 52, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5182954 5183889 + 5024332 5025267 + 5067756 5068691 + 1580863;6480464 14983052 119679 Q8NH60 AB065530;ABBA01028642;AC113331;AMYH01003362;BK004318;CH471064;CS248506;NM_001001916 BAC05777;CAJ56770;DAA04716;EAW68813;NP_001001916;Q8NH60 Hs.553558 1804444;1806128;1806950;1823130;2050896;2050898;2050900;2050902;2050904;2050906;2050908;2050910;2050912;2050914;2050916;2050918;2050920;2050922;2105274;2105276 ECD03146;ECD04018;ECD04440;ECD12653;REN96601;REN96602;REN96603;REN96604;REN96605;REN96606;REN96607;REN96608;REN96609;REN96610;REN96611;REN96612;REN96613;REN96614;stSG610707;stSG610708 OR11-32 OTTHUMP00000069568;olfactory receptor 52J3;olfactory receptor OR11-32 APPROVED protein-coding ENSG00000205495 14799 15017 VALIDATED 1344092 OR52D1 olfactory receptor, family 52, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5628427 5629491 + 5466513 5467469 + 5509915 5510979 + 6480464 11121057;14983052;10220430;20677014;12477932 390066 Q9H346 ABBA01028651;AC087380;AF137396;AMYH01003363;BC136928;BC136930;BK004276;CH471064;CS248482;NM_001005163 AAG41676;AAI36929;AAI36931;CAJ56759;DAA04674;EAW68791;NP_001005163;Q9H346 Hs.553734 1806626;1807966;1808806;2054426;2054428;2054430;2054432;2054434;2054436;2054438;2054440;2054442;2054444;2054446;2054448;2054450;2054452;2105818;2219340 ECD04270;ECD04961;ECD05386;OR52D1__5878;REN98375;REN98376;REN98377;REN98378;REN98379;REN98380;REN98381;REN98382;REN98383;REN98384;REN98385;REN98386;REN98387;REN98388;stSG611004 OR11-43 HOR 5'Beta14;OTTHUMP00000069815;odorant receptor HOR5'beta14;olfactory receptor 52D1;olfactory receptor OR11-43 APPROVED protein-coding ENSG00000181609 15212 15008 VALIDATED 1350564 OR52K3P olfactory receptor, family 52, subfamily K, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4620237 4621183 + 4452515 4453661 + 4496040 4496986 + 1580863 22470424 390035 Q9Y347 ABBA01028640;AC010930;AF143328;AMYH01003359;NG_004319 AAD33911 Hs.162035 2186178 WI-11523 APPROVED pseudo 15224 INFERRED 1353810 OR52E4 olfactory receptor, family 52, subfamily E, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6025085 6026023 + 5862099 5863037 + 5905523 5906461 + 1580863;6480464 14983052;12477932 390081 Q8NGH9 AB065817;ABBA01028657;AC131574;AMYH01003366;BC136972;BC136974;BK004302;CH471064;CS248466;NM_001005165 AAI36973;AAI36975;BAC06036;CAJ56753;DAA04700;EAW68756;NP_001005165;Q8NGH9 Hs.553739 2219342 OR52E4__5880 OR11-55 OTTHUMP00000239504;olfactory receptor 52E4;olfactory receptor OR11-55 APPROVED protein-coding ENSG00000180974 15213 15010 PROVISIONAL 1353890 OR52L2P olfactory receptor, family 52, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6198018 6199129 - 6035025 6036136 - 6078449 6079560 - 14983052 79274 Q8NGH6 AB065820;ABBA01028658;AC009642;AC111177;AMYH01003366;BK004254;NG_003195 BAC06039;DAA04652;Q8NGH6 OR52L2 APPROVED pseudo 14788 INFERRED 1349652 OR52M1 olfactory receptor, family 52, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4690621 4691574 + 4522997 4523950 + 4566421 4567374 + 1580863;6480464 14983052;12732197;12644552;23251661 119772 Q8NGK5 AB065789;ABBA01028640;AC025249;AC090719;AF546574;AMYH01003361;BK004372;CH471064;NM_001004137 AAI46425;BAC06008;DAA04770;EAW68839;NP_001004137;Q8NGK5 Hs.553567 2219348 OR52M1__5890 OR11-11;OR52M1P;OR52M3P OTTHUMP00000230778;olfactory receptor 52M1;olfactory receptor OR11-11;olfactory receptor, family 52, subfamily M, member 1 pseudogene;olfactory receptor, family 52, subfamily M, member 3 pseudogene APPROVED protein-coding ENSG00000197790 15225 15020 VALIDATED 1345173 OR52M2P olfactory receptor, family 52, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4660368 4661347 - 4492651 4493830 - 4536175 4537154 - 338637 ABBA01028640;AC010930;AMYH01003359;NG_004305 OR52M4 APPROVED pseudo 15226 INFERRED 1348757 OR52N1 olfactory receptor, family 52, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5928113 5929075 - 5765660 5766622 - 5809084 5810046 - 1580863;6480464 14983052 79473 Q8NH53 AB065538;ABBA01028656;AC131574;AMYH01003365;BK004306;CH471064;CS248460;NM_001001913 BAC05784;CAJ56750;DAA04704;EAW68761;NP_001001913;Q8NH53 Hs.690209 OR11-61 OTTHUMP00000239500;olfactory receptor 52N1;olfactory receptor OR11-61 APPROVED protein-coding ENSG00000181001 14853 15021 PROVISIONAL 1349859 OR52E8 olfactory receptor, family 52, subfamily E, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5997069 5998022 - 5834555 5835508 - 5877979 5878932 - 16554811;14983052;12477932 390079 Q6IFG1 ABBA01028656;AC131574;AMYH01003366;BC137030;BC137041;BK004301;CH471064;CS248468;NM_001005168 AAI37031;AAI37042;CAJ56754;DAA04699;EAW68757;NP_001005168;Q6IFG1 Hs.553738 OR11-54 OTTHUMP00000239503;olfactory receptor 52E8;olfactory receptor OR11-54;olfactory receptor, family 52, subfamily E, member 8 pseudogene APPROVED protein-coding ENSG00000183269 15217 15013 PROVISIONAL 1347746 OR52N3P olfactory receptor, family 52, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5940616 5941573 + 5778070 5779227 + 5821594 5822551 + 14983052 81251 ABBA01028656;AC131574;AMYH01003365;BK004567;NG_004221 OR11-60 APPROVED pseudo 15229 INFERRED 1352778 OR52I2 olfactory receptor, family 52, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4732227 4733341 + 4564619 4565671 + 4608021 4609135 + 14983052;12732197;12477932 143502 Q8NH67 AB065522;ABBA01028641;AC090719;AMYH01003361;BC136921;BC151144;BK004264;CH471064;NM_001005170 AAI36922;AAI51145;BAC05770;DAA04662;EAW68837;NP_001005170;Q8NH67 Hs.553607 1707886 SHGC-82187 OR11-12 OTTHUMP00000230826;olfactory receptor 52I2;olfactory receptor OR11-12 APPROVED protein-coding ENSG00000226288 15221 15016 VALIDATED 1349972 OR52K2 olfactory receptor, family 52, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4594721 4595787 + 4427146 4428090 + 4470525 4471591 + 1580863;6480464 14983052;12477932 119774 Q8NGK3 AB065791;ABBA01028640;AC010930;AMYH01003359;BC137247;BC137248;BK004258;CH471064;CS248450;NM_001005172 AAI37248;AAI37249;BAC06010;CAJ56745;DAA04656;EAW68843;NP_001005172;Q8NGK3 Hs.553568 OR11-7 OTTHUMP00000230776;olfactory receptor 52K2;olfactory receptor OR11-7 APPROVED protein-coding ENSG00000181963 15223 15019 VALIDATED 1346171 OR52P1P olfactory receptor, family 52, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5866800 5867762 + 5704208 5705367 + 5747731 5748690 + 14983052 81248 Q8NH57 AB065534;ABBA01028655;AC109341;AMYH01003365;BK004746;NG_004220 Q8NH57 1805470;1806762;1808030;1809254;2056386;2056388;2056390;2056392;2056394;2056396;2056398;2056400;2056402;2056404;2056406;2056408;2056410;2056412;2056414;2191860;2191862 ECD03683;ECD04339;ECD04993;ECD05617;REN99358;REN99359;REN99360;REN99361;REN99362;REN99363;REN99364;REN99365;REN99366;REN99367;REN99368;REN99369;REN99370;REN99371;REN99372;stSG611181;stSG611182 OR11-66;OR52P1 APPROVED pseudo 15232 INFERRED 1353085 OR52P2P olfactory receptor, family 52, subfamily P, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4576760 4577656 - 4409039 4410135 - 4452562 4453458 - 119775 ABBA01028639;AC009758;AMYH01003359;NG_004282 APPROVED pseudo 15233 INFERRED 1353916 OR52Q1P olfactory receptor, family 52, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6044438 6045281 + 5881341 5882384 + 5924866 5925709 + 81246 ABBA01028658;AC025016;AMYH01003366;NG_004219 APPROVED pseudo 15234 INFERRED 1344719 OR52H1 olfactory receptor, family 52, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5684367 5685329 - 5522367 5523329 - 5565791 5566753 - 6480464 14983052;12477932 390067 Q8NGJ2 AB065802;ABBA01028652;AC087380;AMYH01003364;BC136998;BK004383;BK004682;CH471064;NM_001005289 AAI36999;BAC06021;DAA04781;EAW68787;NP_001005289;Q8NGJ2 Hs.554540 1812296;1812380;1827224;1832252;2054938;2054940;2054942;2054944;2054946;2054948;2054950;2054952;2054954;2054956;2054958;2054960;2054962;2105906;2105908;2105910;2219344 ECD07155;ECD07197;ECD14727;ECD17264;OR52H1__5884;REN98631;REN98632;REN98633;REN98634;REN98635;REN98636;REN98637;REN98638;REN98639;REN98640;REN98641;REN98642;REN98643;stSG611049;stSG611050;stSG611051 OR11-41;OR11-45 OTTHUMP00000069829;olfactory receptor 52H1;olfactory receptor OR11-41 pseudogene;olfactory receptor OR11-45 APPROVED protein-coding ENSG00000181616 15218 15014 PROVISIONAL 1354346 OR52R1 olfactory receptor, family 52, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4948451 4949398 - 4781239 4782423 - 4824663 4825610 - 6480464 14983052 119695 J3KPH5;Q8NGF1 AB065857;ABBA01028642;AC103710;AMYH01003362;BK004282;CH471064;NM_001005177 BAC06075;DAA04680;EAW68827;NP_001005177;Q8NGF1 Hs.553563 1798654;1831510;1839860;2104958;2104960 ECD00167;ECD16892;ECD21113;stSG610543;stSG610544 OR11-22 OTTHUMP00000069321;olfactory receptor 52R1;olfactory receptor OR11-22 APPROVED protein-coding ENSG00000176937 15235 15024 VALIDATED 1353465 OR52S1P olfactory receptor, family 52, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5212548 5213502 - 5053818 5054972 - 5097342 5098296 - 79521 ABBA01028643;AC020597;AC113331;AMYH01003362;NG_002262 1804278;1825440;1830198;2051168;2051170;2051172;2051174;2051176;2051178;2051180;2051182;2051184;2051186;2051188;2051190;2051192;2051194;2051196;2105322;2105324;2105326 ECD03063;ECD13827;ECD16232;REN96737;REN96738;REN96739;REN96740;REN96741;REN96742;REN96743;REN96744;REN96745;REN96746;REN96747;REN96748;REN96749;REN96750;REN96751;stSG610732;stSG610733;stSG610734 APPROVED pseudo 14805 INFERRED 1348721 OR52T1P olfactory receptor, family 52, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5706488 5707466 - 5544357 5545522 - 5587880 5588845 - 81244 ABBA01028652;AC015691;AMYH01003364;NG_004218 1813100;1814046;1814776;1842120;2055130;2055132;2055134;2055136;2055138;2055140;2055142;2055144;2055146;2055148;2055150;2055152;2055154;2055156;2055158;2105944;2105946 ECD07569;ECD08051;ECD08419;ECD22263;REN98727;REN98728;REN98729;REN98730;REN98731;REN98732;REN98733;REN98734;REN98735;REN98736;REN98737;REN98738;REN98739;REN98740;REN98741;stSG611069;stSG611070 APPROVED pseudo 15236 INFERRED 1345158 OR52U1P olfactory receptor, family 52, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5859592 5860568 + 5696996 5698172 + 5740520 5741496 + 81243 ABBA01028655;AC109341;AMYH01003365;NG_004217 1811630;1816628;1821328;2056326;2056328;2056330;2056332;2056334;2056336;2056338;2056340;2056342;2056344;2056346;2056348;2056350;2056352;2191850;2191852 ECD06818;ECD09357;ECD11747;REN99328;REN99329;REN99330;REN99331;REN99332;REN99333;REN99334;REN99335;REN99336;REN99337;REN99338;REN99339;REN99340;REN99341;stSG611175;stSG611176 APPROVED pseudo 15237 INFERRED 1343178 OR52V1P olfactory receptor, family 52, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5667033 5667936 - 5504929 5506032 - 5548453 5549356 - 81242 ABBA01028652;AC087380;AMYH01003364;NG_004216 1807968;1808808;1827400;1830668;2054780;2054782;2054784;2054786;2054788;2054790;2054792;2054794;2054796;2054798;2054800;2054802;2054804;2054806;2054808;2105880;2105882;2105884 ECD04962;ECD05387;ECD14816;ECD16470;REN98552;REN98553;REN98554;REN98555;REN98556;REN98557;REN98558;REN98559;REN98560;REN98561;REN98562;REN98563;REN98564;REN98565;REN98566;stSG611035;stSG611036;stSG611037 APPROVED pseudo 15238 INFERRED 1345989 OR52X1P olfactory receptor, family 52, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6207510 6208689 - 6044519 6045698 - 6087943 6089122 - 79272 ABBA01028658;AC009642;AC111177;AMYH01003366;NG_002220 APPROVED pseudo 14790 INFERRED 1346460 OR52Y1P olfactory receptor, family 52, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4938791 4939284 - 4771475 4772168 - 4814998 4815491 - 81240 ABBA01028642;AC103710;AMYH01003362;NG_004215 1798532;1815540;1840792;2104948 ECD00104;ECD08806;ECD21587;stSG610538 OR52Y2P APPROVED pseudo 15240 INFERRED 1351783 OR52Z1 olfactory receptor, family 52, subfamily Z, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5317607 5318502 - 5155426 5156516 - 5198951 5199841 - 17973576;16554811;11121057 283110 P0C646;Q9H2C7 ABBA01028647;AC129505;AMYH01003362;NG_004304 P0C646 1802028;1841448;2052040;2052042;2052044;2052046;2052048;2052050;2052052;2052054;2052056;2052058;2052060;2052062;2052064;2105440;2105442 ECD01895;ECD21920;REN97177;REN97178;REN97179;REN97180;REN97181;REN97182;REN97183;REN97184;REN97185;REN97186;REN97187;REN97188;REN97189;stSG610797;stSG610798 OR52Z1P APPROVED pseudo 19596 INFERRED 1352155 OR52L1 olfactory receptor, family 52, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6126700 6127793 - 5963747 5964736 - 6007122 6008215 - 14983052;12908129;12477932 338751 Q8NGH7 AB065819;ABBA01028658;AC009642;AC111177;AMYH01003366;AY284549;BC137343;BK004253;CH471064;CS248446;NM_001005173 AAI37344;BAC06038;CAJ56743;DAA04651;EAW68750;NP_001005173;Q8NGH7 Hs.553703 OR11-50 OTTHUMP00000229560;olfactory receptor 52L1;olfactory receptor OR11-50 APPROVED protein-coding ENSG00000183313 14785 17744 VALIDATED 1347049 OR55B1P olfactory receptor, family 55, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4172137 4173116 - 4124022 4125201 - 4167545 4168524 - 390030 ABBA01032035;AC015689;AMYH01003350;NG_004317;NG_027992 OR55B2P;OR55C1P APPROVED pseudo 15241 INFERRED 1351120 OR56A3 olfactory receptor, family 56, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6088148 6089095 + 5925153 5926100 + 5968577 5969524 + 1580863 14983052 390083 Q8NH54 AB065537;ABBA01028658;AC009642;AC025016;AMYH01003366;BK004305;CS248462;NM_001003443 BAC05783;CAJ56751;DAA04703;NP_001003443;Q8NH54 Hs.553741 OR56A2P;OR56A3P;OR56A6 OTTHUMP00000229559;olfactory receptor 56A3;olfactory receptor 56A6;olfactory receptor OR11-51;olfactory receptor, family 56, subfamily A, member 2 pseudogene;olfactory receptor, family 56, subfamily A, member 3 pseudogene;olfactory receptor, family 56, subfamily A, member 6 APPROVED protein-coding ENSG00000184478 14786 17747 PROVISIONAL 1345673 OR52K1 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 4634302 4635331 + 4466707 4467651 + 4510109 4511138 + 1580863;6480464 14983052;12477932;22470424;23251661 390036 Q8NGK4 AB065790;ABBA01028640;AC010930;AMYH01003359;BC137056;BC137059;BK004257;CH471064;CS248452;NM_001005171 AAI37057;AAI37060;BAC06009;CAJ56746;DAA04655;EAW68842;NP_001005171;Q8NGK4 Hs.553726 1715121 RH119513 OR11-8 OTTHUMP00000230777;olfactory receptor 52K1;olfactory receptor OR11-8 APPROVED protein-coding ENSG00000196778 15222 15018 VALIDATED 1344603 OR56A5 olfactory receptor, family 56, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2009] 11 11 11 p15.4 6108360 6109301 - 5945359 5946300 - 5988783 5989724 - 6480464 16554811 390084 P0C7T3 ABBA01028658;AC009642;AC025016;AMYH01003366;NM_001146033 NP_001139505;P0C7T3 Hs.719888 OR56A5P olfactory receptor 56A5;olfactory receptor, family 56, subfamily A, member 5 pseudogene APPROVED protein-coding 14792 VALIDATED 1350527 OR56A7P olfactory receptor, family 56, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6186606 6187543 - 6023516 6024653 - 6067039 6067976 - 81236 ABBA01028658;AC111177;AMYH01003366;NG_004214 APPROVED pseudo 15244 INFERRED 1346756 OR52N2 olfactory receptor, family 52, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5960538 5961503 + 5798142 5799107 + 5841566 5842531 + 1580863;6480464 14983052;12477932 390077 Q8NGI0 AB065816;ABBA01028656;AC131574;AMYH01003365;BC140732;BK004303;CH471064;CS248456;NM_001005174 AAI40733;BAC06035;CAJ56748;DAA04701;EAW68759;NP_001005174;Q8NGI0 Hs.553737 OR11-57 OTTHUMP00000239501;olfactory receptor 52N2;olfactory receptor OR11-57 APPROVED protein-coding ENSG00000180988 15228 17745 PROVISIONAL 1348024 OR56B2P olfactory receptor, family 56, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5905424 5906308 + 5742868 5743952 + 5786391 5787275 + 6480464 14983052 390073 Q6IF78;Q8NGI1 AB065814;ABBA01028656;AC131574;AMYH01003365;BK004384;NG_004326 BAC06033;DAA04782;Q8NGI1 2056736;2056738;2056740;2056742;2056744;2056746;2056748;2056750;2056752;2056754;2056756;2056758;2056760;2056762;2056764 REN99533;REN99534;REN99535;REN99536;REN99537;REN99538;REN99539;REN99540;REN99541;REN99542;REN99543;REN99544;REN99545;REN99546;REN99547 OR11-63;OR56B2 APPROVED pseudo 15246 INFERRED 1353339 OR56B3P olfactory receptor, family 56, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6269343 6270286 + 6106316 6107459 + 6149840 6150783 + 401675 ABBA01028661;AC111177;AMYH01003366;NG_004390 APPROVED pseudo 15247 INFERRED 1352153 OR52N4 olfactory receptor, family 52, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5894984 5896020 + 5732547 5733512 + 5775923 5776959 + 1580863;6480464 14983052;12477932 390072 Q8NGI2 AB065813;ABBA01028656;AC131574;AMYH01003365;BC137035;BC137036;BK004385;CH471064;CS248494;NM_001005175 AAI37036;AAI37037;BAC06032;CAJ56764;DAA04783;EAW68764;NP_001005175;Q8NGI2 Hs.553735 1819848;2056642;2056644;2056646;2056648;2056650;2056652;2056654;2056656;2056658;2056660;2056662;2056664;2056666;2056668;2219350 ECD10994;OR52N4__5892;REN99486;REN99487;REN99488;REN99489;REN99490;REN99491;REN99492;REN99493;REN99494;REN99495;REN99496;REN99497;REN99498;REN99499 OR11-64 OTTHUMP00000069807;olfactory receptor 52N4;olfactory receptor OR11-64 APPROVED protein-coding ENSG00000181074 15230 15022 VALIDATED 1347388 OR52N5 olfactory receptor, family 52, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5917897 5918930 - 5755466 5756440 - 5798864 5799897 - 1580863;6480464 14983052;12477932 390075 Q8NH56 AB065535;ABBA01028656;AC131574;AMYH01003365;BC136979;BC136981;BK004300;CH471064;NM_001001922 AAI36980;AAI36982;BAC05781;DAA04698;EAW68762;NP_001001922;Q8NH56 Hs.690207 2056866;2056868;2056870;2056872;2056874;2056876;2056878;2056880;2056882;2056884;2056886;2056888;2056890;2056892;2056894 REN99598;REN99599;REN99600;REN99601;REN99602;REN99603;REN99604;REN99605;REN99606;REN99607;REN99608;REN99609;REN99610;REN99611;REN99612 OR11-62;OR52N5Q OTTHUMP00000239499;olfactory receptor 52N5;olfactory receptor OR11-62 APPROVED protein-coding ENSG00000181009 15231 15023 VALIDATED 1349253 OR56A1 olfactory receptor, family 56, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6167475 6168545 - 6004554 6005510 - 6047901 6048971 - 14983052;12477932 120796 Q8NGH5 AB065821;ABBA01028658;AC111177;AMYH01003366;BC136904;BC136911;BK004252;CH471064;CS248444;NM_001001917 AAI36905;AAI36912;BAC06040;CAJ56742;DAA04650;EAW68748;NP_001001917;Q8NGH5 Hs.553543 OR11-75 OTTHUMP00000229562;olfactory receptor 56A1;olfactory receptor OR11-75 APPROVED protein-coding ENSG00000180934 14781 17746 VALIDATED 1353462 OR52W1 olfactory receptor, family 52, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6339538 6340500 + 6177030 6177992 + 6220454 6221416 + 1580863;6480464 16554811;14983052;12477932 120787 Q6IF63 AB065511;ABBA01028663;AC022762;AMYH01003366;BC137225;BK004399;CH471064;CS248474;NM_001005178 AAI37226;BAC05759;CAJ56865;DAA04797;EAW68742;NP_001005178;Q6IF63 Hs.553570 2110619 OR52W1__5894 OR11-71;OR52W1P OTTHUMP00000229563;olfactory receptor 52W1;olfactory receptor OR11-71;olfactory receptor, family 52, subfamily W, member 1 pseudogene APPROVED protein-coding ENSG00000175485 15239 15025 PROVISIONAL 1342645 OR5AC1 olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96172677 96173598 + 99265906 99267027 + 97783315 97784236 + 17973576;14983052 81431 P0C628 ABBA01026938;AC024892;AMYH01013351;NG_004267 P0C628 OR5AC1P APPROVED pseudo 15047 INFERRED 1349503 OR5AC2 olfactory receptor, family 5, subfamily AC, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96196637 96197566 + 99288707 99289636 + 97806017 97806946 + 1580863;6480464 10706615;16641997 81050 Q9NZP5 ABBA01026938;AC133439;AF179759;AMYH01013351;CH471052;NM_054106 AAF40348;AAI48626;AAI53190;EAW79870;NP_473447;Q9NZP5 Hs.554715 HSA1 OTTHUMP00000217457;olfactory receptor 5AC2 APPROVED protein-coding ENSG00000196578 15431 15030 PROVISIONAL 1343346 OR5AC4P olfactory receptor, family 5, subfamily AC, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 q11.2 99306188 99307303 + 97823598 97824513 + 403271 ABBA01026938;AC117460;AMYH01013351;NG_004426 APPROVED pseudo 31284 INFERRED 1344757 OR5AH1P olfactory receptor, family 5, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 54314345 54314713 + 61963944 61964512 + 57272233 57272601 + 79336 ABBA01020829;AC006115;AMYH01010022;NG_002357 APPROVED pseudo 14714 INFERRED 1344070 OR5AK1P olfactory receptor, family 5, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54144545 54145472 + 56542042 56543169 + 56785567 56786494 + 81230 ABBA01021467;AMYH01003650;AP002826;NG_004213 OR5AK5P APPROVED pseudo 15250 INFERRED 1350661 OR5AK4P olfactory receptor, family 5, subfamily AK, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54163971 54164897 + 56561585 56562512 + 56805009 56805935 + 6480464 12908129;11705801 219525 ABBA01021467;AF309700;AF309701;AMYH01003651;AP001521;AY284037;NR_036445 Hs.554519 PJCG3 APPROVED pseudo 15253 PROVISIONAL 1347825 OR56A4 olfactory receptor, family 56, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6142864 6143961 - 5979857 5980954 - 6023281 6024378 - 14983052;12477932 120793 Q6IFK7;Q8NGH8 AB065818;ABBA01028658;AC009642;AC111177;AMYH01003366;BC136986;BK004255;CH471064;NM_001005179 AAI36987;BAC06037;DAA04653;EAW68749;NP_001005179;Q8NGH8 Hs.553571 1657233;1695558;1723103;2219352 D11S2415;OR56A4__5896;RH123738;SHGC-68742 OR11-49 OTTHUMP00000229561;olfactory receptor 56A4;olfactory receptor OR11-49 APPROVED protein-coding ENSG00000183389 14791 15026 PROVISIONAL 1342502 OR5AL1 olfactory receptor, family 5, subfamily AL, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53527853 53528837 + 55936648 55937832 + 56180173 56181157 + 14983052;12730696;12213199 79482 P0C617 ABBA01021463;AMYH01003648;AP002512;NG_004144 P0C617 OR5AL1P APPROVED pseudo 14844 INFERRED 1343300 OR5AL2P olfactory receptor, family 5, subfamily AL, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53508886 53509805 + 55917681 55918800 + 56161206 56162125 + 79476 ABBA01021463;AMYH01003648;AP002512;NG_004143 APPROVED pseudo 14850 INFERRED 1346192 OR5AK3P olfactory receptor, family 5, subfamily AK, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54097513 54098439 + 56495001 56496127 + 56738526 56739452 + 81228 Q8NH89 ABBA01021466;AMYH01003650;AP002826;NG_004212 Q8NH89 OR5AK3 APPROVED pseudo 15252 INFERRED 1354384 OR5AM1P olfactory receptor, family 5, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53734898 53735962 - 56143698 56144962 - 56387222 56388286 - 81226 ABBA01021463;AMYH01003650;AP002517;NG_004211 APPROVED pseudo ENSG00000255172 15254 INFERRED 1343737 OR5AN2P olfactory receptor, family 5, subfamily AN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56438395 56439341 - 58833591 58834737 - 59077115 59078061 - 81224 ABBA01021499;AMYH01003661;AP002358;NG_004210 APPROVED pseudo 15256 INFERRED 1348056 OR5AO1P olfactory receptor, family 5, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 54171517 54171847 + 56569030 56569560 + 56812555 56812885 + 403272 ABBA01021467;AP001521;NG_004427 APPROVED pseudo 31285 INFERRED 1347292 OR5AP1P olfactory receptor, family 5, subfamily AP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53748315 53749254 - 56157115 56158254 - 56400639 56401578 - 81223 ABBA01021463;AMYH01003650;AP002517;NG_004209 APPROVED pseudo 15257 INFERRED 1348653 OR56B4 olfactory receptor, family 56, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6248512 6249471 + 6085585 6086544 + 6129009 6129968 + 1580863 14983052;12477932 196335 Q8NH76 AB065513;ABBA01028661;AC111177;AMYH01003366;BC136879;BC136880;BK004325;CH471064;CS248476;NM_001005181 AAI36880;AAI36881;BAC05761;CAJ56757;DAA04723;EAW68746;NP_001005181;Q8NH76 Hs.632154 OR11-67 OTTHUMP00000230080;olfactory receptor 56B4;olfactory receptor OR11-67 APPROVED protein-coding ENSG00000180919 15248 15027 PROVISIONAL 1354171 OR5AQ1P olfactory receptor, family 5, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53162014 53162949 + 55578317 55579452 + 55821841 55822776 + 6480464 14983052 81221 AB065451;AB065593;ABBA01021460;AC068339;AMYH01003646;BK004580;BK004708;NG_004208 OR11-165 APPROVED pseudo 15259 INFERRED 1349600 OR5A2 olfactory receptor, family 5, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56550732 56551706 - 58946028 58947002 - 59189452 59190426 - 1580863;6480464 14983052;12213199;12477932 219981 Q8NGI9 AB065805;ABBA01021501;AF399529;AMYH01003661;AP003778;BC136991;BK004308;CH471076;CS248276;NM_001001954 AAI36992;AAK95014;BAC06024;CAJ56661;DAA04706;EAW73843;NP_001001954;Q8NGI9 Hs.553648 OTTHUMP00000235905;olfactory receptor 5A2;olfactory receptor OR11-248 APPROVED protein-coding ENSG00000172324 15249 15029 PROVISIONAL 1347435 OR56B1 olfactory receptor, family 56, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 5876826 5877800 + 5714323 5715297 + 5757678 5758768 + 1580863 17567994;14983052;12477932 387748 Q8NGI3 AB065812;ABBA01028655;AC131574;AK122668;AMYH01003365;BC137184;BC137185;BK004386;CH471064;CS248498;NM_001005180 AAI37185;AAI37186;BAC06031;BAG53654;CAJ56766;DAA04784;EAW68765;NP_001005180;Q8NGI3 Hs.689609 1808178;1808960;1816292;1840588;2056474;2056476;2056478;2056480;2056482;2056484;2056486;2056488;2056490;2056492;2056494;2056496;2056498;2056500;2056502;2056504;2145430;2191876;2191878 ECD05070;ECD05463;ECD09188;ECD21484;REN99402;REN99403;REN99404;REN99405;REN99406;REN99407;REN99408;REN99409;REN99410;REN99411;REN99412;REN99413;REN99414;REN99415;REN99416;REN99417;SHGC-14206;stSG611189;stSG611190 OR11-65;OR56B1P OTTHUMP00000069808;olfactory receptor 56B1;olfactory receptor OR11-65;olfactory receptor, family 56, subfamily B, member 1 pseudogene APPROVED protein-coding ENSG00000181023 15245 17748 VALIDATED 1343270 OR5AS1 olfactory receptor, family 5, subfamily AS, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53138060 53139034 + 55554471 55555445 + 55797895 55798869 + 1580863;6480464 14983052 219447 Q8N127 AB065452;AB065543;ABBA01021460;AC068339;AMYH01003646;BK004344;CH471076;CS248354;NM_001001921 BAC05714;BAC05788;CAJ56697;DAA04742;EAW73695;NP_001001921;Q8N127 Hs.553625 OR11-168 OTTHUMP00000234213;olfactory receptor 5AS1;olfactory receptor OR11-168 APPROVED protein-coding ENSG00000181785 15261 17751 PROVISIONAL 1344437 OR5AW1P olfactory receptor, family 5, subfamily AW, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130861938 130862861 - 130303084 130304207 - 130475503 130476426 - 81076 ABBA01042124;AL135784;AMYH01022982;NG_004158 2187470 AL031247 APPROVED pseudo 15406 INFERRED 1604183 OR5AZ1P olfactory receptor, family 5, subfamily AZ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55041800 55042728 - 57441250 57442378 - 57684774 57685702 - 6480464 14983052;12213199 283193 AB065549;ABBA01021482;AF399500;AMYH01003655;AP003484;BK004802;NG_004207 APPROVED pseudo 15262 INFERRED 1354315 OR5B10P olfactory receptor, family 5, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55474887 55475540 - 57873034 57873687 - 58116458 58117111 - 9500546 390186 ABBA01021488;AMYH01003658;AP000435;NG_002306;U86223 OR13-34;OR13-64;OR13-67;OR5B10;OR5B11;OR5B11P;OR5B18P;OR5B4P APPROVED pseudo 8320 INFERRED 1352210 OR5B15P olfactory receptor, family 5, subfamily B, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55513472 55514387 - 57911520 57912635 - 58155044 58155959 - 81215 ABBA01021488;AMYH01003658;AP002345;NG_004206 1717753 RH121784 APPROVED pseudo 15265 INFERRED 1354277 OR5A1 olfactory receptor, family 5, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56571922 56572869 + 58967218 58968165 + 59210642 59211589 + 1580863 14983052;12213199;12477932 219982 Q8NGJ0 AB065804;ABBA01021501;AC019093;AC069371;AF399528;AMYH01003661;AP003778;BC137060;BC137061;BK004310;CH471076;CS248278;NM_001004728 AAI37061;AAI37062;AAK95013;BAC06023;CAJ56662;DAA04708;EAW73844;NP_001004728;Q8NGJ0 Hs.553649 2219354 OR5A1__5899 OR11-249;OR5A1P;OST181 OTTHUMP00000235745;olfactory receptor 5A1;olfactory receptor OR11-249;olfactory receptor, family 5, subfamily A, member 1 pseudogene APPROVED protein-coding ENSG00000172320 8319 15028 PROVISIONAL 1347466 OR5B17 olfactory receptor, family 5, subfamily B, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55484027 55484971 - 57882174 57883118 - 58125598 58126542 - 1580863 14983052 219965 Q8NGF7 AB065849;ABBA01021488;AMYH01003658;AP000435;BK004491;CH471076;CS248200;NM_001005489 BAC06067;CAJ56626;DAA04889;EAW73803;NP_001005489;Q8NGF7 Hs.554517 OR11-237;OR5B20P OTTHUMP00000235991;olfactory receptor 5B17;olfactory receptor 5B20;olfactory receptor OR11-237;olfactory receptor, family 5, subfamily B, member 20 pseudogene APPROVED protein-coding ENSG00000197786 15267 15036 VALIDATED 1348349 OR5B19P olfactory receptor, family 5, subfamily B, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55469715 55470572 - 57867762 57868819 - 58111286 58112143 - 81211 ABBA01021488;AMYH01003658;AP000435;NG_004205 APPROVED pseudo 15269 INFERRED 1603460 OR5B1P olfactory receptor, family 5, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55491823 55492470 - 57889970 57890617 - 58133394 58134041 - 12213199;9500546 401692 ABBA01021488;AF399501;AMYH01003658;AP002345;NG_002305 OR3-144;OR5B14P;OR5B5;OR5B5P;OR5B6;OR5B6P;OR5B7;OR5B7P;OR5B8;OR5B8P;OR5B9;OR5B9P;OR6-55;OR6-57;OR8-122;OR8-123;OR912-92 APPROVED pseudo 8322 INFERRED 1348283 OR5AK2 olfactory receptor, family 5, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54115370 54116299 + 56512965 56513894 + 56756389 56757318 + 1580863 14983052;12477932 390181 Q8NH90 AB065496;ABBA01021467;AMYH01003650;AP002826;BC137198;CH471076;NM_001005323 AAI37199;BAC05747;EAW73728;NP_001005323;Q8NH90 Hs.554520 OTTHUMP00000234762;olfactory receptor 5AK2 APPROVED protein-coding ENSG00000181273 15251 15031 PROVISIONAL 1345076 OR5B21 olfactory receptor, family 5, subfamily B, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55633757 55634686 - 58031225 58032154 - 58274649 58275578 - 6480464 219968 A6NL26 ABBA01021488;AMYH01003660;AP003557;NM_001005218 A6NL26;NP_001005218 Hs.553647 OTTHUMP00000236081;olfactory receptor 5B21 APPROVED protein-coding ENSG00000198283 19616 17753 PROVISIONAL 1354314 OR5B3 olfactory receptor, family 5, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55528361 55529305 - 57926514 57927458 - 58169938 58170882 - 1580863 14983052 441608 Q8NH48 AB065545;ABBA01021488;AMYH01003658;AP002345;BK004506;CH471076;CS248572;NM_001005469 BAC05790;CAJ56802;DAA04904;EAW73804;NP_001005469;Q8NH48 Hs.553826 OR11-239;OR5B13;OST129 OTTHUMP00000236079;olfactory receptor 5B13;olfactory receptor 5B3;olfactory receptor OR11-239;olfactory receptor, family 5, subfamily B, member 13 APPROVED protein-coding ENSG00000172769 8324 15038 VALIDATED 1343130 OR5BA1P olfactory receptor, family 5, subfamily BA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54990821 54991799 - 57390250 57391428 - 57633774 57634752 - 81210 ABBA01021481;AMYH01003655;AP003484;NG_004204 APPROVED pseudo 15270 INFERRED 1344363 OR5BB1P olfactory receptor, family 5, subfamily BB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56520106 56521044 - 58915302 58916440 - 59158826 59159764 - 81209 ABBA01021501;AMYH01003661;AP003778;NG_004203 APPROVED pseudo 15271 INFERRED 1345168 OR5BC1P olfactory receptor, family 5, subfamily BC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55443541 55444374 - 57841588 57842621 - 58085112 58085945 - 81208 ABBA01021488;AMYH01003658;AP000435;NG_004202 APPROVED pseudo 15272 INFERRED 1346829 OR5BD1P olfactory receptor, family 5, subfamily BD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55070000 55071035 - 57469545 57470571 - 57712969 57713995 - 79483 ABBA01021483;AC040925;AMYH01003655;AP003484;NG_002253 APPROVED pseudo 14843 INFERRED 1349508 OR5BE1P olfactory receptor, family 5, subfamily BE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53190448 53191383 + 55606753 55607888 + 55850277 55851212 + 81207 ABBA01021461;AC068339;AMYH01003646;NG_004201 APPROVED pseudo 15273 INFERRED 1353797 OR5BG1P olfactory receptor, family 5, subfamily BG, member 1 pseudogene 15274 1349496 OR5AN1 olfactory receptor, family 5, subfamily AN, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56493212 56494147 + 58888508 58889443 + 59131932 59132867 + 1580863 14983052;12477932 390195 Q8NGI8 AB065806;ABBA01021501;AMYH01003661;AP002780;BC140917;BK004508;CH471076;CS248368;NM_001004729 AAI40918;BAC06025;CAJ56704;DAA04906;EAW73842;NP_001004729;Q8NGI8 Hs.553755 OR11-244 OTTHUMP00000235744;olfactory receptor 5AN1;olfactory receptor OR11-244 APPROVED protein-coding ENSG00000176495 15255 15032 PROVISIONAL 1350178 OR5BJ1P olfactory receptor, family 5, subfamily BJ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47584255 47585158 - 47074433 47075536 - 48788265 48789168 - 81047 ABBA01031481;AC090115;AMYH01004432;NG_004156 OST740 APPROVED pseudo 15434 INFERRED 1343683 OR5BH1P olfactory receptor, family 5, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 130918458 130919366 - 130359604 130360712 - 130532023 130532931 - 10737800 81075 ABBA01042128;AL135784;AMYH01022982;NG_004157 2148107 DXS7278 OR5BH2P APPROVED pseudo 15407 INFERRED 1347786 OR5BK1P olfactory receptor, family 5, subfamily BK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47545436 47546322 - 47035609 47036695 - 48749442 48750328 - 401718 ABBA01031481;AC024257;AMYH01004432;NG_004391 APPROVED pseudo 14817 INFERRED 1349347 OR5BL1P olfactory receptor, family 5, subfamily BL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55295532 55296164 + 57695037 57695869 + 57938562 57939194 + 81205 ABBA01021486;AMYH01003658;AP004247;NG_004200 APPROVED pseudo 15275 INFERRED 1348106 OR5BM1P olfactory receptor, family 5, subfamily BM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96161291 96162216 + 99254327 99255452 + 97771737 97772662 + 79491 ABBA01026939;AC026100;AMYH01013351;NG_004145 APPROVED pseudo 14835 INFERRED 1604131 OR5BN2P olfactory receptor, family 5, subfamily BN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53224283 53224900 - 55640591 55641408 - 55884114 55884731 - 504181 ABBA01021461;AC068339;AMYH01003646;NG_004864 APPROVED pseudo 29194 INFERRED 1343020 OR5BN1P olfactory receptor, family 5, subfamily BN, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53240297 53241125 - 55656618 55657646 - 55900141 55900969 - 14983052 81204 ABBA01021461;AC068339;AMYH01003646;BK004605;NG_004199 OR11-161 APPROVED pseudo 15276 INFERRED 1605328 OR5BP1P olfactory receptor, family 5, subfamily BP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54182128 54182561 + 56579651 56580284 + 56823176 56823609 + 81203 ABBA01021468;AMYH01003651;AP001521;NG_004198 APPROVED pseudo 15277 INFERRED 1346704 OR5AR1 olfactory receptor, family 5, subfamily AR, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53778847 53779779 + 56187738 56188670 + 56431162 56432094 + 1580863;6480464 17903294;14983052;12477932 219493 Q8NGP9 AB065740;ABBA01021463;AMYH01003650;AP004245;BC140745;BK004401;CH471076;CS248302;NM_001004730 AAI40746;BAC05961;CAJ56674;DAA04799;EAW73721;NP_001004730;Q8NGP9 Hs.553633 2219998 OR5AR1__5902 OR11-209 OTTHUMP00000205323;olfactory receptor 5AR1;olfactory receptor OR11-209 APPROVED protein-coding ENSG00000172459 15260 17750 PROVISIONAL 1348137 OR5BQ1P olfactory receptor, family 5, subfamily BQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 54155822 54156157 + 56553338 56553873 + 56796863 56797198 + 81202 ABBA01021467;AMYH01003651;AP002826;NG_004197 OR5BQ2P APPROVED pseudo 15278 INFERRED 1348955 OR5BR1P olfactory receptor, family 5, subfamily BR, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 56461509 56462838 - 58856705 58858234 - 59100229 59101558 - 81201 ABBA01021499;AMYH01003661;AP002358;NG_004196 APPROVED pseudo 15279 INFERRED 1344145 OR5BS1P olfactory receptor, family 5, subfamily BS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47749661 47750593 + 47239832 47240964 + 48953665 48954597 + 390313 ABBA01031482;AC089987;AMYH01004433;NG_004343 OR5BS1 APPROVED pseudo 19627 INFERRED 1344310 OR5BT1P olfactory receptor, family 5, subfamily BT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 47575123 47576077 - 47065301 47066455 - 48779133 48780087 - 282790 ABBA01031481;AC090115;AMYH01004432;NG_004300 APPROVED pseudo 19629 INFERRED 1606314 OR5D11P olfactory receptor, family 5, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq] 12213199;9500546 26351 AF399363;NG_003230;U86285 OR5D11;OR5D1P;OR8-125;OR8-127 pseudo 8332 1348417 OR5D13 olfactory receptor, family 5, subfamily D, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52881056 52882000 + 55297490 55298434 + 55540914 55541858 + 1580863;6480464 14983052 390142 Q8NGL4 AB065778;ABBA01021460;AC036111;AMYH01003643;BK004333;BK004394;CH471076;CS248326;NM_001001967 BAC05998;CAJ56686;DAA04731;DAA04792;EAW73682;NP_001001967;Q8NGL4 Hs.553743 OTTHUMP00000234202;olfactory receptor 5D13;olfactory receptor OR11-142;olfactory receptor OR11-148 APPROVED protein-coding ENSG00000198877 15280 15040 PROVISIONAL 1347450 OR5D15P olfactory receptor, family 5, subfamily D, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52894595 52895536 + 55310917 55312058 + 55554441 55555382 + 81198 ABBA01021460;AC036111;AMYH01003643;NG_004195 APPROVED pseudo 15282 INFERRED 1352687 OR5D16 olfactory receptor, family 5, subfamily D, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52946371 52947357 + 55362804 55363790 + 55606228 55607214 + 1580863;6480464 14983052;12213199 390144 Q8NGK9 AB065783;ABBA01021460;AC036111;AF399524;AMYH01003643;BK004397;CH471076;CS248324;NM_001005496 AAI48516;AAI53113;AAK95009;BAC06003;CAJ56685;DAA04795;EAW73687;NP_001005496;Q8NGK9 Hs.554527 OR11-154 OTTHUMP00000205365;olfactory receptor 5D16;olfactory receptor OR11-154 APPROVED protein-coding ENSG00000205029 15283 17757 PROVISIONAL 1350020 OR5D14 olfactory receptor, family 5, subfamily D, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52903186 52904130 + 55319608 55320552 + 55563032 55563976 + 1580863 14983052;12213199 219436 Q8NGL3 AB065779;ABBA01021460;AC036111;AF399523;AMYH01003643;BK004328;BK004393;CH471076;CS248328;NM_001004735 AAI48381;AAI53006;AAK95008;BAC05999;CAJ56687;DAA04726;DAA04791;EAW73683;NP_001004735;Q8NGL3 Hs.553622 2219362 OR5D14__5909 OR11-141;OR11-150 OTTHUMP00000234203;olfactory receptor 5D14;olfactory receptor OR11-141;olfactory receptor OR11-150 APPROVED protein-coding ENSG00000186113 15281 17756 PROVISIONAL 1350240 OR5D17P olfactory receptor, family 5, subfamily D, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52864314 52865291 + 55278929 55280106 + 55522453 55523430 + 81196 ABBA01021460;AC036111;AMYH01003643;NG_004194 APPROVED pseudo 15284 INFERRED 1350614 OR5D2P olfactory receptor, family 5, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12 52824326 52824962 + 55239049 55239685 + 55482473 55483109 + 12213199;9787077;9500546 8595 ABBA01021458;AF065858;AF399362;AF399363;AMYH01003642;AP006437;NG_002277;U86246;U86247;U86248;U86249;U86250;U86285;U86287;U86288;U86296;U86297;U86298;U86300 OR11-7a;OR18-17;OR18-42;OR18-43;OR18-44;OR18-79;OR5D10P;OR5D11;OR5D11P;OR5D12;OR5D12P;OR5D1P;OR5D5P;OR5D6P;OR5D7P;OR5D8P;OR5D9P;OR8-125;OR8-127;OR912-47;OR912-91;OR912-94;R5D9P APPROVED pseudo 8335 INFERRED 1345537 OR5D3P olfactory receptor, family 5, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12 52835754 52836402 + 55250466 55251114 + 55493890 55494538 + 14983052;12213199;9787077 8594 Q6IFD1 ABBA01021458;AF065860;AF065861;AF399364;AMYH01003643;AP006437;BK004331;CH471076;NG_002172 AAC70015;AAC70016;DAA04729;EAW73680 OR11-8b;OR11-8c;OR5D3;OR5D4 APPROVED pseudo 8336 INFERRED 1354065 OR5E1P olfactory receptor, family 5, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7986111 7986631 + 7826723 7827855 + 7870598 7871118 + 633349;1580863;6480464 9119360 11705801 26343 Q8NGM3 AB065769;ABBA01028682;AC044810;AF309699;AF309702;AMYH01003371;CH471064;NR_027711;X89671 BAC05989;CAA61818;EAW68644 Hs.382973 HSTPCR24;OR5E1;TPCR24 APPROVED pseudo ENSG00000170688 8342 VALIDATED 1354162 OR5B12 olfactory receptor, family 5, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55565011 55566064 - 57963256 57964200 - 58206593 58207646 - 1580863 14983052;12213199;12477932 390191 Q96R08 AB065851;ABBA01021488;AF399637;AMYH01003658;AP002345;BC136947;BC136948;BK004507;CH471076;CS248568;NM_001004733 AAI36948;AAI36949;AAK95122;BAC06069;CAJ56800;DAA04905;EAW73806;NP_001004733;Q96R08 Hs.553754 1782292;2219358 OR5B12__5905;SHGC-112557 OR11-241;OR5B12P;OR5B16;OST743 OTTHUMP00000236142;olfactory receptor 5B12;olfactory receptor 5B16;olfactory receptor OR11-241;olfactory receptor, family 5, subfamily B, member 12 pseudogene;olfactory receptor, family 5, subfamily B, member 16 APPROVED protein-coding ENSG00000172362 15432 15035 VALIDATED 1350041 OR5AP2 olfactory receptor, family 5, subfamily AP, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53756649 53757599 - 56165541 56166491 - 56408965 56409915 - 1580863;6480464 17903294;12477932 338675 B9EH20;Q8NGF4 AB065854;ABBA01021463;AMYH01003650;AP002517;BC136989;BC136990;CH471076;NM_001002925 AAI36990;AAI36991;BAC06072;EAW73720;NP_001002925;Q8NGF4 Hs.449692 OR9J1 OTTHUMP00000234253;olfactory receptor 5AP2;olfactory receptor, family 9, subfamily J, member 1 APPROVED protein-coding ENSG00000172464 15258 17749 PROVISIONAL 1343321 OR5AU1 olfactory receptor, family 5, subfamily AU, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 1483635 1484723 - 20692936 20694024 - 21623096 21624184 - 14983052;12213199;12477932 390445 Q8NGC0 AB065898;ABBA01061240;AF399635;AL157687;AMYH01005594;BC137304;BC137305;BK004520;CH471078;NM_001004731 AAI37305;AAI37306;AAK95120;BAC06114;DAA04918;EAW66402;NP_001004731;Q8NGC0 Hs.553768 2219356 OR5AU1__5903 OR14-38 OTTHUMP00000244315;olfactory receptor 5AU1;olfactory receptor OR14-38 APPROVED protein-coding ENSG00000169327 15362 15034 PROVISIONAL 1353182 OR5F2P olfactory receptor, family 5, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53122657 53123597 - 55538969 55540109 - 55782492 55783432 - 81194 ABBA01021460;AC068339;AMYH01003646;NG_004193 APPROVED pseudo 15286 INFERRED 1348600 OR5G1P olfactory receptor, family 5, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53901525 53902447 - 56299336 56300258 - 56542760 56543682 - 6480464 9787077;9700185 8591 ABBA01021464;AF045576;AF065871;AMYH01003650;AP001803;NG_002299 OR11-104;OR5G2P;OR93;OR93HUM APPROVED pseudo 8344 INFERRED 1351453 OR5G4P olfactory receptor, family 5, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53916360 53917340 - 56314073 56315253 - 56557597 56558577 - 81192 ABBA01021464;AMYH01003650;AP001803;NG_004192 APPROVED pseudo 15288 INFERRED 1345936 OR5G5P olfactory receptor, family 5, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53928102 53929037 - 56325811 56326946 - 56569335 56570270 - 81191 ABBA01021464;AMYH01003650;AP001803;NG_004191 1749807 SHGC-111544 APPROVED pseudo 15289 INFERRED 1346393 OR5G3 olfactory receptor, family 5, subfamily G, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53945721 53946888 - 56343531 56344698 - 56586955 56588122 - 14983052;12730696 81193 P0C626 ABBA01021464;AMYH01003650;AP001803;NG_002406 P0C626 OR5G3P;OR5G6P APPROVED pseudo 15287 INFERRED 1344642 OR5H15 olfactory receptor, family 5, subfamily H, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96277330 96278271 + 99370234 99371175 + 97887544 97888485 + 6480464 403274 A6NDH6 ABBA01026938;AC117460;AMYH01013351;CH471052;NM_001005515 A6NDH6;EAW79867;NP_001005515 Hs.554713 OTTHUMP00000217451;olfactory receptor 5H15 APPROVED protein-coding ENSG00000233412 31287 17760 PROVISIONAL 1347725 OR5H1 olfactory receptor, family 5, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96241322 96242263 + 99334232 99335173 + 97851542 97852483 + 6480464 1370859 26341 A6NKK0 ABBA01026938;AC117460;AMYH01013351;CH471052;NM_001005338;X64988 A6NKK0;AAI48612;EAW79869;NP_001005338 Hs.537383 HSHTPCRX14;HTPCRX14 OTTHUMP00000217447;olfactory receptor 5H1 APPROVED protein-coding ENSG00000231192 8346 17759 PROVISIONAL 1349856 OR5H2 olfactory receptor, family 5, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96393690 96394634 + 99484422 99485366 + 98001732 98002676 + 6480464 14983052;19483685 79310 Q8NGV7 AB065666;ABBA01026931;AC117473;AMYH01013351;BK004375;CH471052;CS248266;NM_001005482 BAC05892;CAJ56657;DAA04773;EAW79865;NP_001005482;Q8NGV7 Hs.554711 OR3-10 OTTHUMP00000217455;olfactory receptor 5H2;olfactory receptor OR3-10 APPROVED protein-coding ENSG00000197938 14752 15042 PROVISIONAL 1353991 OR5H3P olfactory receptor, family 5, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96316327 96317242 + 99408957 99409872 + 97926267 97927185 + 14983052 79309 ABBA01026932;AC117460;AC117473;AMYH01013351;BK004591;NG_002237 APPROVED pseudo 14753 INFERRED 1344827 OR5H4P olfactory receptor, family 5, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96332827 96333754 + 99423573 99424500 + 97940883 97941810 + 14983052 79299 ABBA01026932;AC117460;AC117473;AMYH01013351;BK004592;NG_002231 OR3-5 APPROVED pseudo 14763 INFERRED 1342485 OR5H5P olfactory receptor, family 5, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96306111 96307035 + 99398745 99399669 + 97916055 97916982 + 14983052 79297 ABBA01026933;AC117460;AC117473;AMYH01013351;BK004698;NG_002230 OR3-3 APPROVED pseudo 14765 INFERRED 1353211 OR5H7P olfactory receptor, family 5, subfamily H, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96349143 96350069 + 99439886 99440812 + 97957196 97958122 + 14983052 79291 AB065459;ABBA01026932;AC117460;AC117473;AMYH01013351;BK004589;NG_002228 OR3-6 APPROVED pseudo 14771 INFERRED 1347056 OR5H8P olfactory receptor, family 5, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96422712 96423639 + 99513447 99514374 + 98030757 98031684 + 14983052;12908129 79289 AB065460;ABBA01026930;AC117473;AMYH01013351;AY284071;BK004590;NG_002227 OR3-7 APPROVED pseudo 14773 INFERRED 1350221 OR5B2 olfactory receptor, family 5, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55548161 55549209 - 57946381 57947310 - 58189738 58190786 - 1580863;6480464 14983052;12213199;12477932 390190 Q96R09 AB065852;ABBA01021488;AF399636;AMYH01003658;AP002345;BC136922;BC136923;BK004505;CH471076;CS248570;NM_001005566 AAI36923;AAI36924;AAK95121;BAC06070;CAJ56801;DAA04903;EAW73805;NP_001005566;Q96R09 Hs.553753 OR11-240;OST073 OTTHUMP00000236080;olfactory receptor 5B2;olfactory receptor OR11-240 APPROVED protein-coding ENSG00000172365 8323 15037 VALIDATED 1603461 OR5J1P olfactory receptor, family 5, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53178758 53179693 + 55595063 55596198 + 55838587 55839522 + 14983052;12213199;10706615;1370859 401687 AB065655;AB065842;ABBA01021461;AC068339;AF179763;AF399354;AMYH01003646;BK004581;NG_004086 HTPCRH02;OR11-169;OR5J1 APPROVED pseudo 8348 INFERRED 1354256 OR5J2 olfactory receptor, family 5, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53284239 53285177 + 55700670 55701608 + 55944094 55945032 + 1580863 14983052;1370859 282775 Q8NH18 AB065595;ABBA01021462;AMYH01003648;AP003034;BK004517;CH471076;CS248602;NM_001005492;X64974 AAI56210;AAI56953;BAC05823;CAJ56817;DAA04915;EAW73703;NP_001005492;Q8NH18 Hs.537145 OR11-266 OTTHUMP00000234219;olfactory receptor 5J2;olfactory receptor OR11-266 APPROVED protein-coding ENSG00000174957 19612 17762 PROVISIONAL 1344902 OR5J7P olfactory receptor, family 5, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 53273120 53273541 + 55689452 55690073 + 55932977 55933398 + 403276 ABBA01021462;AP003034;NG_004428 APPROVED pseudo 31289 INFERRED 1604145 OR5C1 olfactory receptor, family 5, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q33.2 96199553 96200515 + 124591033 124591995 + 125551212 125552174 + 6480464 14983052;12477932 392391 Q6IFM9;Q8NGR4 AB065725;ABBA01043717;AC006313;AF399514;AMYH01021694;BC136700;BC136701;BK004233;CH471090;NM_001001923 AAI36701;AAI36702;AAK94999;BAC05946;DAA04631;EAW87544;NP_001001923;Q8NGR4 Hs.534761 OR5C2P;OR9-31;OR9-F OTTHUMP00000022067;hRPK-465_F_21;olfactory receptor 5C1;olfactory receptor 5C2;olfactory receptor 9-F;olfactory receptor, family 5, subfamily C, member 2 pseudogene APPROVED protein-coding ENSG00000148215 8331 15039 PROVISIONAL 1345975 OR5D18 olfactory receptor, family 5, subfamily D, member 18 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52927253 52928194 + 55343682 55344623 + 55587106 55588047 + 1580863;6480464 14983052;12213199;12477932 219438 Q8NGL1 AB065781;ABBA01021460;AC036111;AF399525;AMYH01003643;BC136925;BC136927;BK004329;BK004395;CH471076;CS248322;NM_001001952 AAI36926;AAI36928;AAK95010;BAC06001;CAJ56684;DAA04727;DAA04793;EAW73685;NP_001001952;Q8NGL1 Hs.553624 OR11-143 OTTHUMP00000234205;olfactory receptor 5D18;olfactory receptor OR11-143;olfactory receptor OR11-152 APPROVED protein-coding ENSG00000186119 15285 17758 PROVISIONAL 1347767 OR5K3 olfactory receptor, family 5, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96501349 96502314 + 99592200 99593165 + 98109510 98110475 + 403277 A6NET4 ABBA01026929;AC108730;AMYH01013351;CH471052;NM_001005516 A6NET4;EAW79863;NP_001005516 Hs.554709 OTTHUMP00000217452;olfactory receptor 5K3 APPROVED protein-coding ENSG00000206536 31290 17763 PROVISIONAL 1342893 OR5K4 olfactory receptor, family 5, subfamily K, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96464653 96465618 + 99555388 99556353 + 98072698 98073663 + 403278 A6NMS3 ABBA01026930;AC108730;AC117473;AMYH01013351;CH471052;NM_001005517 A6NMS3;EAW79864;NP_001005517 Hs.554710 OTTHUMP00000217456;olfactory receptor 5K4 APPROVED protein-coding ENSG00000196098 31291 17764 PROVISIONAL 1351053 OR5F1 olfactory receptor, family 5, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53101323 53102267 - 55517733 55518677 - 55761157 55762101 - 1580863;6480464 9787077;14983052;12477932;12213199 338674 A0AUJ7;O95221 ABBA01021460;AC068339;AF065863;AF399527;AMYH01003646;BC101239;BC101241;BC101242;BK004343;CH471076;CS248356;NM_003697 AAC70017;AAI01240;AAI01242;AAI01243;AAK95012;CAJ56698;DAA04741;EAW73694;NP_003688;O95221 Hs.553702 2219364;5493587 OR5F1__5911;UniSTS:487306 OR11-10 OTTHUMP00000234212;olfactory receptor 11-10;olfactory receptor 5F1;olfactory receptor OR11-167 APPROVED protein-coding ENSG00000149133 8343 12246 608492 PROVISIONAL 1347228 OR5H14 olfactory receptor, family 5, subfamily H, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96258015 96258947 + 99350920 99351852 + 97868230 97869162 + 6480464 14983052;12477932 403273 A6NHG9;Q8NHB6 AB065459;ABBA01026938;AC117460;AMYH01013351;BC136984;CH471052;NM_001005514 A6NHG9;AAI36985;BAC05719;EAW79868;NP_001005514 Hs.554714;Hs.719887 OTTHUMP00000217454;olfactory receptor 5H14;olfactory receptor, family 5, subfamily H, member 14;seven transmembrane helix receptor APPROVED protein-coding ENSG00000236032 31286 15041 PROVISIONAL 1342923 OR5L2 olfactory receptor, family 5, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52934841 52935776 + 55351271 55352206 + 55594695 55595630 + 1580863;6480464 1370859;14983052;12213199 26338 Q8NGL0 AB065782;ABBA01021460;AC036111;AF399526;AMYH01003643;BK004396;CH471076;CS248320;NM_001004739;X64990 AAI72290;AAK95011;BAC06002;CAJ56683;DAA04794;EAW73686;NP_001004739;Q8NGL0 Hs.528356 2219368;5493175 OR5L1__5914;UniSTS:484587 HSHTPCRX16;HTPCRX16;OR11-153 OTTHUMP00000234206;olfactory receptor 5L2;olfactory receptor OR11-153;olfactory receptor, family 5, subfamily L, member 1 APPROVED protein-coding ENSG00000205030 8351 15046 PROVISIONAL 1349395 OR5M1 olfactory receptor, family 5, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53727707 53728654 - 56136607 56137554 - 56380031 56380978 - 1580863;6480464 14983052;12213199 390168 Q8NGP8;Q8NH86 AB065501;AB065742;ABBA01021463;AF399522;AMYH01003650;AP002517;BK004402;CH471076;CS248306;NM_001004740 AAK95007;BAC05751;BAC05962;CAJ56676;DAA04800;EAW73719;NP_001004740;Q8NGP8 Hs.553751 1782410 SHGC-154780 OR11-208;OST050 OTTHUMP00000234252;olfactory receptor 5M1;olfactory receptor OR11-208;seven transmembrane helix receptor APPROVED protein-coding ENSG00000255012 8352 17765 PROVISIONAL 1347959 OR5H6 olfactory receptor, family 5, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q12.1 96375091 96376068 + 99465819 99466796 + 97983129 97984106 + 6480464 14983052;12477932 79295 Q8NGV6 AB065667;ABBA01026931;AC117460;AMYH01013351;BC137523;BC137524;BK004374;CH471052;CS248268;NM_001005479 AAI37524;AAI37525;BAC05893;CAJ56658;DAA04772;EAW79866;NP_001005479;Q8NGV6 Hs.554712 OR3-11 OTTHUMP00000217453;olfactory receptor 5H6;olfactory receptor OR3-11 APPROVED protein-coding ENSG00000230301 14767 17761 PROVISIONAL 1350071 OR5M12P olfactory receptor, family 5, subfamily M, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53744085 53745052 + 56152884 56154051 + 56396409 56397376 + 81188 ABBA01021463;AMYH01003650;AP002517;NG_004190 APPROVED pseudo ENSG00000197866 15292 INFERRED 1350377 OR5M13P olfactory receptor, family 5, subfamily M, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53712659 53713146 - 56121559 56122046 - 56364983 56365470 - 10706615 81187 ABBA01021463;AF179769;AMYH01003650;AP002517;NG_002281 APPROVED pseudo 15293 INFERRED 1604783 OR5M14P olfactory receptor, family 5, subfamily M, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p13 42169247 42169600 - 41419884 41420437 - 41725227 41725580 - 9847074 81421 ABBA01014273;AC105389;AMYH01014132;NG_004263 OR5M15P APPROVED pseudo 15057 INFERRED 1345187 OR5M2P olfactory receptor, family 5, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53594642 53595577 - 56003443 56004578 - 56246967 56247902 - 79523 ABBA01021463;AMYH01003648;AP002512;NG_004154 OR11-193 APPROVED pseudo 14803 INFERRED 1347070 OR5K1 olfactory receptor, family 5, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96580080 96581031 + 99671111 99672062 + 98188421 98189372 + 1580863;6480464 14983052;1370859;12477932 26339 Q8NHB7 AB065458;ABBA01026929;AC074274;AMYH01013351;BC136918;BC136919;BK004416;CH471052;NM_001004736;X64984 AAI36919;AAI36920;AAI46326;AAI48753;BAC05718;DAA04814;EAW79862;NP_001004736;Q8NHB7 Hs.621533 2219366 OR5K1__5913 HSHTPCRX10;HTPCRX10;OR3-8 OTTHUMP00000217404;olfactory receptor 5K1;olfactory receptor OR3-8 APPROVED protein-coding ENSG00000232382 8349 15043 PROVISIONAL 1351815 OR5M4P olfactory receptor, family 5, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53563808 53564732 + 55972620 55973744 + 56216145 56217069 + 79518 ABBA01021463;AMYH01003648;AP002512;NG_004152 1668574 G19252 APPROVED pseudo 14808 INFERRED 1349304 OR5M5P olfactory receptor, family 5, subfamily M, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53641690 53642625 - 56050519 56051654 - 56294043 56294978 - 6480464 14983052;12213199 390166 AB065743;ABBA01021463;AF399360;AMYH01003649;AP002512;BK004644;BK004652;BK004721;NG_004151 APPROVED pseudo 14810 INFERRED 1352049 OR5M6P olfactory receptor, family 5, subfamily M, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53627367 53628303 - 56036186 56037322 - 56279710 56280646 - 79512 ABBA01021463;AMYH01003649;AP002512;NG_004150 APPROVED pseudo 14814 INFERRED 1352287 OR5M7P olfactory receptor, family 5, subfamily M, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53615432 53616403 - 56024251 56025422 - 56267775 56268746 - 79508 ABBA01021463;AMYH01003649;AP002512;NG_004149 APPROVED pseudo 14818 INFERRED 1345283 OR5K2 olfactory receptor, family 5, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q11.2 96608183 96609133 + 99699215 99700165 + 98216525 98217475 + 1580863 16641997;14983052;12477932 402135 Q8NHB8 AB065457;ABBA01026929;AC021660;AMYH01013351;BC136724;BC136725;BK004415;CH471052;CS248212;NM_001004737 AAI36725;AAI36726;BAC05717;CAJ56631;DAA04813;EAW79861;NP_001004737;Q8NHB8 Hs.632558 OR3-9 OTTHUMP00000217405;olfactory receptor 5K2;olfactory receptor OR3-9 APPROVED protein-coding ENSG00000231861 14774 15044 PROVISIONAL 1347852 OR5M9 olfactory receptor, family 5, subfamily M, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53577622 53578554 - 55986521 55987453 - 56229945 56230877 - 1580863 14983052;12213199 390162 Q8NGP3 AB065747;ABBA01021463;AF399519;AMYH01003648;AP002512;BK004497;CH471076;NM_001004743 AAI40459;AAI48708;AAK95004;BAC05967;DAA04895;EAW73714;NP_001004743;Q8NGP3 Hs.553749 2219372 OR5M9__5920 OR11-190 OTTHUMP00000234265;olfactory receptor 5M9;olfactory receptor OR11-190 APPROVED protein-coding ENSG00000150269 15294 15048 PROVISIONAL 1346767 OR5P1P olfactory receptor, family 5, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7909964 7910885 - 7750916 7752037 - 7794440 7795361 - 79283 ABBA01028682;AC021427;AMYH01003371;NG_004139 APPROVED pseudo 14779 INFERRED 1343585 OR5M11 olfactory receptor, family 5, subfamily M, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53657477 53658394 - 56066392 56067309 - 56309816 56310733 - 1580863;6480464 14983052;12213199;12477932 219487 Q96RB7 ABBA01021463;AF399521;AMYH01003649;AP002517;BC136951;BC136953;BK004656;CH471076;NM_001005245 AAI36952;AAI36954;AAK95006;EAW73717;NP_001005245;Q96RB7 Hs.553632 OR11-199 OTTHUMP00000234250;olfactory receptor 5M11;olfactory receptor OR11-199 pseudogene APPROVED protein-coding ENSG00000255223 15291 17766 PROVISIONAL 1353504 OR5M10 olfactory receptor, family 5, subfamily M, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53691923 53692870 - 56100826 56101773 - 56344250 56345197 - 6480464 16554811;14983052;12477932 390167 Q6IEU7 ABBA01021463;AMYH01003649;AP002517;BC140733;BK004515;CH471076;CS248604;NM_001004741 AAI40734;CAJ56818;DAA04913;EAW73718;NP_001004741;Q6IEU7 Hs.553750 2219370 OR5M10__5917 OR11-207 OTTHUMP00000234251;olfactory receptor 5M10;olfactory receptor OR11-207 APPROVED protein-coding ENSG00000254834 15290 15047 PROVISIONAL 1349329 OR5P4P olfactory receptor, family 5, subfamily P, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7883055 7883974 + 7724013 7725132 + 7767538 7768457 + 81185 ABBA01028682;AC021427;AMYH01003371;NG_004189 OST730 APPROVED pseudo 15295 INFERRED 1351573 OR5R1 olfactory receptor, family 5, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53532415 53533389 - 55941310 55942284 - 56184734 56185708 - 1580863;6480464 14983052 219479 Q8NH85 AB065504;ABBA01021463;AMYH01003648;AP002512;BK004514;CH471076;CS248564;NM_001004744 BAC05752;CAJ56868;DAA04912;EAW73713;NP_001004744;Q8NH85 Hs.553630 2219376 OR5R1__5923 OR11-185;OR5R1P OTTHUMP00000205328;olfactory receptor 5R1;olfactory receptor OR11-185;olfactory receptor, family 5, subfamily R, member 1 pseudogene APPROVED protein-coding ENSG00000174942 14841 15049 PROVISIONAL 1352607 OR5P3 olfactory receptor, family 5, subfamily P, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7962108 7963043 - 7803160 7804095 - 7846584 7847519 - 1580863;6480464 14983052;12213199;11705801 120066 Q8WZ94 AB065770;ABBA01028682;AC044810;AF158377;AF399366;AMYH01003371;BK004321;CH471064;CS248294;NM_153445 AAI41522;AAL32991;BAC05990;CAJ56670;DAA04719;EAW68645;NP_703146;Q8WZ94 Hs.351825 1765717;2219374;5492531 OR5P3__5922;SHGC-149151;UniSTS:481519 JCG1 OTTHUMP00000230678;olfactory receptor 5P3;olfactory receptor OR11-94;olfactory receptor-like protein JCG1 APPROVED protein-coding ENSG00000182334 14784 17770 PROVISIONAL 1353442 OR5S1P olfactory receptor, family 5, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234721556 234722503 + 240697092 240698239 + 241048519 241049466 + 9847074 391496 ABBA01048859;AC013469;AMYH01011617;NG_004369 APPROVED pseudo 15040 INFERRED 1353329 OR5M3 olfactory receptor, family 5, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53584725 53585648 - 55993626 55994549 - 56236964 56238014 - 1580863;6480464 14983052;12213199;12477932 219482 Q8NGP4 AB065746;ABBA01021463;AF399518;AMYH01003648;AP002512;BC136982;BC136983;BK004498;CH471076;CS248160;NM_001004742 AAI36983;AAI36984;AAK95003;BAC05966;CAJ56607;DAA04896;EAW73715;NP_001004742;Q8NGP4 Hs.553631 1704312 SHGC-83297 OR11-191 OTTHUMP00000234266;olfactory receptor 5M3;olfactory receptor OR11-191 APPROVED protein-coding ENSG00000174937 14806 17767 VALIDATED 1345495 OR5L1 olfactory receptor, family 5, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52919094 52920029 + 55335519 55336454 + 55578943 55579878 + 1580863;6480464 15489334;14983052;12477932 219437 Q8NGL2 AB065780;ABBA01021460;AC022289;AC036111;AMYH01003643;BC109249;BC109250;BC136939;BK004332;CH471076;CS248116;NM_001004738 AAI09250;AAI09251;AAI36940;BAC06000;CAJ56585;DAA04730;EAW73684;NP_001004738;Q8NGL2 Hs.553623 2219368;5493175 OR5L1__5914;UniSTS:484587 OR11-151;OST262 OTTHUMP00000234204;olfactory receptor 5L1;olfactory receptor OR11-151 APPROVED protein-coding ENSG00000186117 8350 15045 PROVISIONAL 1351333 OR5T3 olfactory receptor, family 5, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53359806 53360828 + 55776252 55777274 + 56019676 56020698 + 6480464 14983052;23251661 390154 Q8NGG3 AB065837;ABBA01021463;AC022882;AMYH01003648;BK004335;CH471076;NM_001004747 BAC06056;DAA04733;EAW73705;NP_001004747;Q8NGG3 Hs.553746 OR11-178;OR5T3Q OTTHUMP00000234244;olfactory receptor 5T3;olfactory receptor OR11-178 APPROVED protein-coding ENSG00000172489 15297 15052 PROVISIONAL 1350624 OR5W1P olfactory receptor, family 5, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53010996 53011798 - 55427296 55428298 - 55670819 55671621 - 81182 ABBA01021460;AC036111;AMYH01003646;NG_004188 OR11-144 APPROVED pseudo 15298 INFERRED 1342811 OR5W2 olfactory receptor, family 5, subfamily W, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53021301 53022233 - 55437702 55438634 - 55681126 55682058 - 1580863;6480464 14983052;12213199;20379614 390148 Q8NH69 AB065520;ABBA01021460;AC036111;AF399355;AMYH01003646;BK004398;CH471076;NM_001001960 BAC05768;DAA04796;EAW73690;NP_001001960;Q8NH69 Hs.554526 OR5W2P;OR5W3P OTTHUMP00000234208;olfactory receptor 5W2;olfactory receptor 5W3;olfactory receptor OR11-155;olfactory receptor, family 5, subfamily W, member 3 pseudogene APPROVED protein-coding ENSG00000187612 15299 15054 PROVISIONAL 1351255 OR5I1 olfactory receptor, family 5, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 53043107 53044051 - 55459508 55460452 - 55702932 55703876 - 1580863;6480464 9787077;15489334;14983052;12477932;9017400 10798 Q13606 ABBA01021460;AMYH01003646;AP003033;BC069093;BK004518;CH471076;NM_006637;U56420 AAB01214;AAH69093;DAA04916;EAW73691;NP_006628;Q13606 Hs.533706 5492469 UniSTS:481154 HSOlf1;OLF1 OTTHUMP00000234210;olfactory receptor 5I1;olfactory receptor OR11-159;olfactory receptor-like protein OLF1 APPROVED protein-coding ENSG00000167825 8347 09772 608496 REVIEWED 1343653 OR5M8 olfactory receptor, family 5, subfamily M, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53605589 53606524 - 56014487 56015422 - 56257911 56258846 - 1580863;6480464 14983052;12213199;12477932 219484 Q8NGP6 AB065744;ABBA01021463;AF399520;AMYH01003648;AP002512;BC136978;BC136980;BK004499;CH471076;CS248158;NM_001005282 AAI36979;AAI36981;AAK95005;BAC05964;CAJ56606;DAA04897;EAW73716;NP_001005282;Q8NGP6 Hs.554522 OR11-194 OTTHUMP00000234267;olfactory receptor 5M8;olfactory receptor OR11-194 APPROVED protein-coding ENSG00000181371 14846 17768 PROVISIONAL 1354464 OR5T1 olfactory receptor, family 5, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53383199 53384179 + 55799691 55800671 + 56043115 56044095 + 1580863;6480464 14983052;12477932 390155 Q8NG75 AB065962;ABBA01021463;AC022882;AMYH01003648;BC136992;BC136993;BK004336;CH471076;CS248594;NM_001004745 AAI36993;AAI36994;BAC06174;CAJ56813;DAA04734;EAW73706;NP_001004745;Q8NG75 Hs.553747 OR11-179;OR5T1P OTTHUMP00000234245;olfactory receptor 5T1;olfactory receptor OR11-179;olfactory receptor, family 5, subfamily T, member 1 pseudogene APPROVED protein-coding ENSG00000181698 14821 15050 PROVISIONAL 1344577 OR5P2 olfactory receptor, family 5, subfamily P, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 7933044 7934012 - 7774097 7775065 - 7817521 7818489 - 1580863;6480464 15489334;14983052;12477932;11705801 120065 Q8WZ86;Q8WZ92 AB065767;ABBA01028682;AC044810;AF173006;AF220494;AMYH01003371;BC101710;BC113557;BK004322;CH471064;CS248198;NM_153444 AAI01711;AAI13558;AAL32992;AAL32995;ADR83133;BAC05987;CAJ56625;DAA04720;EAW68646;NP_703145;Q8WZ92 Hs.351824 5492529 UniSTS:481508 JCG3;JCG4;MGC126759;MGC142117 OTTHUMP00000230677;olfactory receptor 5P2;olfactory receptor OR11-93;olfactory receptor-like protein JCG3 APPROVED protein-coding ENSG00000183303 14783 17769 PROVISIONAL 1348304 OR5V1 olfactory receptor, family 5, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 6 6 6 p22.1 30929186 30930233 - 29430986 29432033 - 29323007 29324054 - 1580863;6480464 17684544;14983052;14574404;12637542;12477932;19833159;19851445;20205591 81696 Q9UGF6 ABBA01038032;AJ459859;AL096770;AL662781;AL732432;AMYH01016195;BC069149;BK004440;BX005133;BX927232;CH471081;CR759808;NM_030876 AAH69149;AAI48488;CAB65797;CAD31042;DAA04838;EAX03189;NP_110503;Q9UGF6 Hs.666316 2219378;5492399 OR5V1__5927;UniSTS:480912 6M1-21;hs6M1-21 OTTHUMP00000029285;OTTHUMP00000108530;olfactory receptor 5V1;olfactory receptor OR6-26 APPROVED protein-coding ENSG00000243729 13972 17771 VALIDATED 1604704 OR6C2 olfactory receptor, family 6, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55498203 55499132 + 54132265 54133203 + 55845998 55846936 + 6480464 10706615;16541075 341416 Q9NZP2 ABBA01008383;AC122685;AF179766;AMYH01004492;NM_054105 AAF40351;AAI48631;NP_473446;Q9NZP2 Hs.524483 1749183;1782724;2220000 OR6C2__5932;SHGC-110866;SHGC-155577 OR6C67 HSA3;OTTHUMP00000242524;olfactory receptor 6C2 APPROVED protein-coding ENSG00000179695 15436 17773 PROVISIONAL 1350028 OR6B3 olfactory receptor, family 6, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234657516 234658511 - 240633167 240634162 - 240984494 240985489 - 1580863;6480464 14983052 150681 Q8NGW1 AB065662;ABBA01048858;AC013469;AMYH01011616;BK004289;CH471063;NM_173351 BAC05888;DAA04687;EAW71177;NP_775486;Q8NGW1 Hs.626616 2219382 OR6B3__5930 OR6B3P;OR6B3Q OTTHUMP00000201599;olfactory receptor 6B3;olfactory receptor OR2-2;olfactory receptor, family 6, subfamily B, member 3 pseudogene APPROVED protein-coding ENSG00000178586 15042 17772 PROVISIONAL 1352046 OR6C5P olfactory receptor, family 6, subfamily C, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55357833 55358755 + 53991786 53992908 + 55705619 55706541 + 390320 ABBA01008382;AC122684;AMYH01004492;NG_004345 APPROVED pseudo 31292 INFERRED 1343219 OR6C3 olfactory receptor, family 6, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55377703 55378638 + 54011752 54012687 + 55725485 55726420 + 1580863;6480464 10706615;16541075 254786 Q9NZP0 ABBA01008382;AC122684;AF179770;AMYH01004492;CH471054;NM_054104 AAF40353;AAI48525;AAI53120;EAW96807;NP_473445;Q9NZP0 Hs.553653 OST709 HSA8;OTTHUMP00000242321;olfactory receptor 6C3 APPROVED protein-coding ENSG00000205329 15437 15057 PROVISIONAL 1352413 OR6C6 olfactory receptor, family 6, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55340139 55341085 - 53974339 53975283 - 55688072 55689016 - 6480464 283365 A6NF89 ABBA01008382;AC122684;AMYH01004492;NM_001005493 A6NF89;NP_001005493 Hs.554555 OTTHUMP00000237923;olfactory receptor 6C6 APPROVED protein-coding ENSG00000188324 31293 17775 PROVISIONAL 1347665 OR6C64P olfactory receptor, family 6, subfamily C, member 64 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55568851 55569729 + 54202544 54203622 + 55916377 55917255 + 403281 ABBA01008383;AC122685;AMYH01004492;NG_004429 APPROVED pseudo 31294 INFERRED 1347254 OR5T2 olfactory receptor, family 5, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53339712 53340791 - 55756158 55757237 - 55999582 56000661 - 6480464 14983052;12477932 219464 Q8NGG2 AB065838;ABBA01021463;AC022882;AMYH01003648;BC136876;BK004334;CH471076;NM_001004746 AAI36877;BAC06057;DAA04732;EAW73704;NP_001004746;Q8NGG2 Hs.553627 OR11-177 OTTHUMP00000234243;olfactory receptor 5T2;olfactory receptor OR11-177 APPROVED protein-coding ENSG00000181718 15296 15051 PROVISIONAL 1351296 OR6C66P olfactory receptor, family 6, subfamily C, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55434468 55435400 + 54068396 54069528 + 55782229 55783161 + 403283 ABBA01008383;AC125816;AMYH01004492;NG_004430 APPROVED pseudo 31296 INFERRED 1347505 OR6C68 olfactory receptor, family 6, subfamily C, member 68 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55538531 55539484 + 54172414 54173367 + 55886162 55887100 + 6480464 403284 A6NDL8 ABBA01008383;AC122685;AMYH01004492;CH471054;NM_001005519 A6NDL8;EAW96814;NP_001005519 Hs.626886 OTTHUMP00000242525;olfactory receptor 6C68 APPROVED protein-coding ENSG00000205327 31297 17776 PROVISIONAL 1342577 OR6C69P olfactory receptor, family 6, subfamily C, member 69 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55308308 55309203 + 53942490 53943585 + 55656323 55657218 + 403285 ABBA01008382;AC122684;AMYH01004492;NG_004431 APPROVED pseudo 31298 INFERRED 1351550 OR6B1 olfactory receptor, family 6, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 138334371 138335306 + 143332023 143332958 + 143701090 143702025 + 6480464 14983052;12853948;12213199;12477932 135946 O95007 AACC02000107;ABBA01000975;AC004853;AF399605;AMYH01018074;BC137042;BC137047;BK004216;CH236959;NM_001005281 AAI37043;AAI37048;AAK95090;DAA04614;EAL23796;NP_001005281;O95007 Hs.632031 OR7-3;OR7-9 OTTHUMP00000212426;olfactory receptor 6B1;olfactory receptor 7-3;olfactory receptor OR7-9 APPROVED protein-coding ENSG00000221813 8354 15055 PROVISIONAL 1342600 OR6C71P olfactory receptor, family 6, subfamily C, member 71 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55422733 55423668 - 54056752 54057887 - 55770584 55771519 - 390324 ABBA01008383;AC125816;AMYH01004492;NG_004347 APPROVED pseudo 31300 INFERRED 1346205 OR6C70 olfactory receptor, family 6, subfamily C, member 70 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55515181 55516119 - 54149251 54150189 - 55862984 55863922 - 6480464 390327 A6NIJ9 ABBA01008383;AC122685;AMYH01004492;CH471054;NM_001005499 A6NIJ9;EAW96813;NP_001005499 Hs.632718 OTTHUMP00000245179;olfactory receptor 6C70 APPROVED protein-coding ENSG00000184954 31299 15059 PROVISIONAL 1347303 OR6C72P olfactory receptor, family 6, subfamily C, member 72 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55329517 55330450 + 53963701 53964834 + 55677534 55678467 + 403288 ABBA01008382;AC122684;AMYH01004492;NG_004432 APPROVED pseudo 31301 INFERRED 1351208 OR6C73P olfactory receptor, family 6, subfamily C, member 73 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 q13.2 54076227 54077424 + 55790060 55791057 + 403289 ABBA01008383;AC125816;AMYH01004492;NG_004433 APPROVED pseudo 31302 INFERRED 1353505 OR6C75 olfactory receptor, family 6, subfamily C, member 75 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55410961 55411899 + 54045162 54046100 + 55758895 55759833 + 390323 A6NL08 ABBA01008383;AC125816;AMYH01004492;CH471054;NM_001005497 A6NL08;EAW96808;NP_001005497 Hs.554554 OTTHUMP00000242383;olfactory receptor 6C75 APPROVED protein-coding ENSG00000187857 31304 15061 PROVISIONAL 1350278 OR6C76 olfactory receptor, family 6, subfamily C, member 76 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55472093 55473030 + 54106305 54107243 + 55820038 55820976 + 6480464 390326 A6NM76 ABBA01008383;AC125816;AMYH01004492;CH471054;NM_001005183 A6NM76;EAW96811;NP_001005183 Hs.553764 OTTHUMP00000242523;olfactory receptor 6C76 APPROVED protein-coding ENSG00000185821 31305 15062 PROVISIONAL 1347271 OR6C7P olfactory receptor, family 6, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55388655 55389593 + 54022789 54023927 + 55736622 55737560 + 390322 ABBA01008382;AC125816;AMYH01004492;NG_004346 APPROVED pseudo 31306 INFERRED 1603536 OR6D1P olfactory receptor, family 6, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41756975 41757787 + 45073662 45074674 + 45753757 45754569 + 12213199 220974 ABBA01050025;AF399475;AL512324;AMYH01002298;NG_004293 1757431 SHGC-144816 OR6D2P APPROVED pseudo 14849 INFERRED 1348824 OR6B2 olfactory receptor, family 6, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234642436 234643374 - 240617581 240618519 - 240968908 240969846 - 6480464 14983052;12477932 389090 Q6IFH4 AB065663;ABBA01048858;AC013469;AMYH01011616;BC065821;BC137561;BC137562;BK004288;CH471063;NM_001005853 AAI37562;AAI37563;BAC05889;DAA04686;EAW71176;NP_001005853;Q6IFH4 Hs.531343 OR2-1;OR6B2P OTTHUMP00000201600;olfactory receptor 6B2;olfactory receptor OR2-1;olfactory receptor, family 6, subfamily B, member 2 pseudogene APPROVED protein-coding ENSG00000182083 15041 15056 PROVISIONAL 1349555 OR6E1P olfactory receptor, family 6, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3034406 3035331 + 22241092 22242217 + 23171353 23172278 + 12213199 79323 ABBA01061283;AF399346;AL160314;AMYH01005598;NG_002244 APPROVED pseudo 14739 INFERRED 1350971 OR6J1 olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 2965704 2966693 - 22172500 22173489 - 23102660 23103649 - 79549 Q8NGC5 AB065892;ABBA01061281;AC023226;AL160314;AMYH01005597;NG_002274 BAC06108;Q8NGC5 OR6J1P;OR6J2 APPROVED pseudo 14707 INFERRED 1348899 OR6K1P olfactory receptor, family 6, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131735025 131735995 - 156930853 156932023 - 158664329 158665299 - 81449 ABBA01016625;AL513205;AMYH01001443;NG_004271 1723663 RH118729 APPROVED pseudo 15028 INFERRED 1605112 OR6A2 olfactory receptor, family 6, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 6934849 6936232 - 6772332 6773715 - 6815756 6817139 - 6480464 9787077;15489334;14983052;12477932;11416212;20608641 8590 O95222 AB065822;ABBA01028673;AC002555;AC087280;AF065870;AF321237;AMYH01003368;BC101489;BC101491;BK004427;CH471064;NM_003696 AAC70018;AAG45208;AAI01490;AAI01492;BAC06041;DAA04825;EAW68676;NP_003687;O95222 Hs.652252 2219380;5492369;5493269 OR6A2__5928;Olfr2;UniSTS:485547 I7;MGC126538;MGC126540;OR11-55;OR6A1;OR6A2P OTTHUMP00000230845;hI7 olfactory receptor;hP2 olfactory receptor;olfactory receptor 11-55;olfactory receptor 6A1;olfactory receptor 6A2;olfactory receptor OR11-83;olfactory receptor, family 6, subfamily A, member 1;olfactory receptor, family 6, subfamily A, member 2 pseudogene;seven transmembrane helix receptor APPROVED protein-coding ENSG00000184933 15301 09771 608495 PROVISIONAL 1352543 OR6K3 olfactory receptor, family 6, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131757642 131758589 - 156953582 156954577 - 158686958 158687905 - 6480464 16710414;14983052 391114 Q8NGY3 AB065633;ABBA01016625;AL513205;AMYH01001443;BK004197;CH471121;NM_001005327 BAC05859;DAA04595;EAW52814;NP_001005327;Q8NGY3 Hs.554488 2109607 OR6K3__5941 OR1-18 OTTHUMP00000024379;olfactory receptor 6K3;olfactory receptor OR1-18;seven transmembrane helix receptor APPROVED protein-coding ENSG00000203757 15030 15064 VALIDATED 1344692 OR6K4P olfactory receptor, family 6, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131764638 131765519 - 156960469 156961550 - 158693903 158694857 - 11181995 128370 Q8NGY4 AB065632;ABBA01016624;AL513205;AMYH01001443;CH471121;NG_004288 BAC05858;EAW52813 APPROVED pseudo 15031 INFERRED 1343868 OR6K5P olfactory receptor, family 6, subfamily K, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131782731 131783578 - 156978882 156979929 - 158712358 158713205 - 391115 ABBA01016624;AL513205;AMYH01001443;NG_004363 APPROVED pseudo 15032 INFERRED 1342545 OR6C1 olfactory receptor, family 6, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55366602 55367540 + 54000651 54001589 + 55714384 55715322 + 1580863;6480464 16541075;12213199;20677014;12477932 390321 Q96RD1 ABBA01008382;AC122684;AF399506;AMYH01004492;BC136957;BC136965;CH471054;NM_001005182 AAI36958;AAI36966;AAK94991;EAW96806;NP_001005182;Q96RD1 Hs.553763 OST267 OTTHUMP00000237924;olfactory receptor 6C1 APPROVED protein-coding ENSG00000205330 8355 11416 PROVISIONAL 1346436 OR6L1P olfactory receptor, family 6, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128131660 128132739 + 135238550 135239629 - 135388560 135389639 - 8782825 390012 AL161645;AMYH01003243;NG_002282 APPROVED pseudo 15124 INFERRED 1349290 OR6L2P olfactory receptor, family 6, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128273015 128273939 + 135093788 135094912 - 135243898 135244822 - 81356 ABBA01006218;ABBA01006219;ABBA01006220;ABBA01006221;ABBA01006222;AL161645;AMYH01003243;NG_004252 APPROVED pseudo 15125 INFERRED 1345773 OR6C4 olfactory receptor, family 6, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55597487 55598416 + 54231278 54232207 + 55945011 55945940 + 1580863;6480464 14983052;7509350;1316921;12477932 341418 Q8NGE1 AB065869;ABBA01008383;AC009779;AMYH01004492;BC137000;BC137001;BK004261;CH471054;CS248574;L19282;L19287;M87866;NM_001005494 AAA20162;AAA20165;AAA61072;AAI37001;AAI37002;BAC06087;CAJ56803;DAA04659;EAW96815;NP_001005494;Q8NGE1 Hs.495021;Hs.554552 2219384 OR6C4__5934 OR12-10 OTTHUMP00000242526;olfactory receptor 6C4;olfactory receptor OR12-10 APPROVED protein-coding ENSG00000179626 19632 17774 PROVISIONAL 1349437 OR6M2P olfactory receptor, family 6, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120871067 120872012 - 123216776 123217921 - 123711666 123712611 - 79546 AMYH01004102;AP000868;NG_004155 1856011;5118698 D11S2572;D11S3561 APPROVED pseudo 14713 INFERRED 1352678 OR6M3P olfactory receptor, family 6, subfamily M, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120891791 120892633 - 123237499 123238541 - 123732389 123733231 - 79321 ABBA01031267;AMYH01004102;AP000868;NG_004140 APPROVED pseudo 14741 INFERRED 1349043 OR6C65 olfactory receptor, family 6, subfamily C, member 65 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55446597 55447535 + 54080580 54081518 + 55794313 55795251 + 6480464 12477932 403282 A6NJZ3 ABBA01008383;AC125816;AMYH01004492;BC136897;BC136899;CH471054;NM_001005518 A6NJZ3;AAI36898;AAI36900;EAW96810;NP_001005518 Hs.554553 OTTHUMP00000242522;olfactory receptor 6C65 APPROVED protein-coding ENSG00000205328 31295 15058 PROVISIONAL 1350201 OR6N2 olfactory receptor, family 6, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131816845 131817798 - 157013096 157014049 - 158746472 158747425 - 1580863 14983052 81442 Q8NGY6 AB065630;ABBA01016624;AL513205;AMYH01001443;BK004200;CH471121;CS248420;NM_001005278 BAC05856;CAJ56730;DAA04598;EAW52809;NP_001005278;Q8NGY6 Hs.554487 OR1-23 OTTHUMP00000024383;olfactory receptor 6N2;olfactory receptor OR1-23 APPROVED protein-coding ENSG00000188340 15035 15067 PROVISIONAL 1347277 OR6P1 olfactory receptor, family 6, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131603484 131604437 - 156799068 156800018 - 158532441 158533394 - 6480464 16939646;16710414;14983052 128366 Q8NGX9 AB065637;ABBA01016625;AL160283;AMYH01001443;BK004193;NM_001160325 BAC05863;DAA04591;NP_001153797;Q8NGX9 Hs.723122 OTTHUMP00000021113;olfactory receptor 6P1;olfactory receptor OR1-12;seven transmembrane helix receptor APPROVED protein-coding ENSG00000186440 15036 VALIDATED 1352611 OR6F1 olfactory receptor, family 6, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221167885 221168811 - 245941754 245942680 - 247875131 247876057 - 1580863;6480464 14983052;12908129;12213199;12477932 343169 Q8NGZ6 AB065619;ABBA01031790;AC118470;AF399604;AMYH01001917;AY284133;BC137142;BC137143;BK004460;BK004745;CH471148;CS248402;NM_001005286 AAI37143;AAI37144;AAK95089;BAC05846;CAJ56721;DAA04858;EAW77199;NP_001005286;Q8NGZ6 Hs.591529 2219386 OR6F1__5940 OR1-34;OR1-38;OST731 OTTHUMP00000038062;olfactory receptor 6F1;olfactory receptor OR1-34 pseudogene;olfactory receptor OR1-38 APPROVED protein-coding ENSG00000169214 15027 17777 PROVISIONAL 1343962 OR6R1P olfactory receptor, family 6, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221288747 221289675 - 246063142 246064270 - 247996619 247997547 - 81440 ABBA01031793;AC099571;AMYH01001917;NG_004270 APPROVED pseudo 15037 INFERRED 1343419 OR6R2P olfactory receptor, family 6, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p21.3 20616849 20617659 + 21710444 21711454 + 21654598 21655408 + 403294 ABBA01005495;AC129925;AMYH01018562;NG_004434 APPROVED pseudo 31307 INFERRED 1352681 OR6K2 olfactory receptor, family 6, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131740163 131741137 - 156936092 156937066 - 158669468 158670442 - 1580863 14983052;12477932 81448 Q8NGY2 AB065634;ABBA01016625;AL513205;AMYH01001443;BC137022;BC137023;BK004196;CH471121;CS248418;NM_001005279 AAI37023;AAI37024;BAC05860;CAJ56729;DAA04594;EAW52815;NP_001005279;Q8NGY2 Hs.554489 OR1-17 OTTHUMP00000024378;olfactory receptor 6K2;olfactory receptor OR1-17 APPROVED protein-coding ENSG00000196171 15029 15063 PROVISIONAL 1348726 OR6S1 olfactory receptor, family 6, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 969732 970727 - 20178695 20179690 - 21108855 21109850 - 14983052 341799 Q8NH40 AB065561;ABBA01061233;AL163636;AMYH01005590;BK004263;CH471078;CS248264;NM_001001968 BAC05799;CAJ56656;DAA04661;EAW66452;NP_001001968;Q8NH40 Hs.513132 OR14-37;OR6S1Q OTTHUMP00000244877;olfactory receptor 6S1;olfactory receptor OR14-37 APPROVED protein-coding ENSG00000181803 15363 17779 PROVISIONAL 1350920 OR6C74 olfactory receptor, family 6, subfamily C, member 74 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55293056 55293994 + 53927339 53928277 + 55641072 55642010 + 6480464 14983052;12477932 254783 A6NCV1 ABBA01008382;AC122684;AMYH01004492;BC140754;CH471054;NM_001005490 A6NCV1;AAI40755;EAW96805;NP_001005490 Hs.554556 OTTHUMP00000228695;olfactory receptor 6C74 APPROVED protein-coding ENSG00000197706 31303 15060 PROVISIONAL 1345888 OR6U2P olfactory receptor, family 6, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55657889 55658820 + 54291574 54292705 + 56005407 56006338 + 390329 ABBA01008383;AC009779;AMYH01004492;NG_004348 OR6U1P APPROVED pseudo 19631 INFERRED 1351378 OR6K6 olfactory receptor, family 6, subfamily K, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131794979 131796010 + 156991230 156992261 + 158724606 158725637 + 6480464 16710414;14983052;12477932 128371 Q8NGW6 AB065650;ABBA01016624;AL513205;AMYH01001443;BC140743;BK004198;CH471121;NM_001005184 AAI40744;BAC05876;DAA04596;EAW52811;NP_001005184;Q8NGW6 Hs.553591 2219388 OR6K6__5942 OR1-21 OTTHUMP00000024381;olfactory receptor 6K6;olfactory receptor OR1-21 APPROVED protein-coding ENSG00000180433 15033 17778 PROVISIONAL 1347518 OR6N1 olfactory receptor, family 6, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131805908 131806846 - 157002158 157003096 - 158735534 158736472 - 1580863;6480464 16710414;14983052;12213199;12477932 128372 Q6IFR3;Q8NGY5 AB065631;ABBA01016624;AF399608;AL513205;AMYH01001443;BC146847;BK004199;CH471121;CS248108;NM_001005185 AAI46848;AAK95093;BAC05857;CAJ56581;DAA04597;EAW52810;NP_001005185;Q8NGY5 Hs.553592 2107471 OR6N1__5944 OR1-22 OTTHUMP00000024382;olfactory receptor 6N1;olfactory receptor OR1-22 APPROVED protein-coding ENSG00000197403 15034 15066 PROVISIONAL 1344052 OR6M1 olfactory receptor, family 6, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120835524 120836465 - 123181326 123182267 - 123676116 123677057 - 1580863 14983052;12908129;12213199;12477932 390261 Q8NGM8 AB065762;ABBA01031268;AF399606;AMYH01004102;AP000868;AY284165;BC136929;BC136931;BK004493;CH471065;CS248202;NM_001005325 AAI36930;AAI36932;AAK95091;BAC05982;CAJ56627;DAA04891;EAW67556;NP_001005325;Q8NGM8 Hs.557924 2219390 OR6M1__5943 OR11-271 OTTHUMP00000231702;olfactory receptor 6M1;olfactory receptor OR11-271;olfactory receptor, family 6, subfamily M, member 2 pseudogene APPROVED protein-coding ENSG00000196099 14711 15065 PROVISIONAL 1347188 OR6Y1 olfactory receptor, family 6, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q23.1 131587961 131588938 - 156783542 156784519 - 158516918 158517895 - 1580863;6480464 16710414;14983052;23222517 391112 Q8NGX8 AB065638;ABBA01016625;AL365440;AMYH01001443;BK004192;CH471121;CS248228;NM_001005189 BAC05864;CAJ56639;DAA04590;EAW52823;NP_001005189;Q8NGX8 Hs.553780 OR1-11;OR6Y2 OTTHUMP00000021111;olfactory receptor 6Y1;olfactory receptor 6Y2;olfactory receptor OR1-11 APPROVED protein-coding ENSG00000197532 14823 15071 PROVISIONAL 1349363 OR7A11P olfactory receptor, family 7, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14922947 14923935 + 14888125 14889313 + 15027226 15028214 + 26669 ABBA01051086;AC004659;AMYH01009540;NG_002215 1341591;2172748 D19S415;SHGC-2308 OR7A11;OST527 APPROVED pseudo 8357 INFERRED 1351094 OR7A15P olfactory receptor, family 7, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14933838 14934487 + 14899124 14899773 + 15038124 15038773 + 12213199;9500546 26335 ABBA01051086;AC004659;AF399435;AMYH01009540;NG_002311;U86253;U86254;U86256 OR19-1;OR19-134;OR19-146;OR7A16P;OR7A20P;OR7A4P APPROVED pseudo 8361 INFERRED 1604685 OR7A10 olfactory receptor, family 7, subfamily A, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14847539 14848468 - 14812760 14813689 - 14951760 14952689 - 6480464 15057824;14983052;12213199 390892 O76100 ABBA01051082;AC005255;AF399542;AMYH01009539;BK004222;CH471106;NM_001005190 AAC25627;AAK95027;DAA04620;EAW84451;NP_001005190;O76100 Hs.553776 BC85395_3;OR19-18 OST027;olfactory receptor 7A10;olfactory receptor OR19-18 APPROVED protein-coding ENSG00000127515 8356 17780 PROVISIONAL 1348742 OR7A18P olfactory receptor, family 7, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14893403 14893829 - 14858558 14859184 - 14997658 14998084 - 81081 ABBA01051086;AC002988;AMYH01009539;NG_002278 APPROVED pseudo 15399 INFERRED 1352801 OR7A19P olfactory receptor, family 7, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 45783731 45784463 + 45272523 45273455 + 46986357 46987089 + 387853 ABBA01031460;AC008035;AMYH01004426;NG_004313 APPROVED pseudo 15337 INFERRED 1346902 OR7A1P olfactory receptor, family 7, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14898416 14899361 - 14863571 14864716 - 15002671 15003616 - 390895 ABBA01051086;AC002988;AMYH01009539;NG_004361 OLF4p;OR19-3;OR7A6P;hg513 APPROVED pseudo 8364 INFERRED 1351275 OR7A2P olfactory receptor, family 7, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14870144 14871820 - 14835398 14837074 - 14974398 14976074 - 15057824;12213199 390894 Q8NGA2 AB065924;ABBA01051085;AC005255;AMYH01009539;NG_004087 BAC06139;Q8NGA2 OLF4p;OR19-18;OR7A2;OR7A7;hg1003 APPROVED pseudo 8370 INFERRED 1343369 OR7A3P olfactory receptor, family 7, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14909892 14910540 - 14875139 14875785 - 15014139 15014785 - 12213199;9787077;9500546 26668 ABBA01051086;AC098791;AF065859;AMYH01009539;NG_002170 OR11-7b;OR14-11;OR14-59;OR19-12;OR7A12P;OR7A13P;OR7A14;OR7A14P APPROVED pseudo 8366 INFERRED 1352757 OR6Q1 olfactory receptor, family 6, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55155488 55156441 + 57555001 57555954 + 57798425 57799378 + 1580863 14983052;12213199;12477932 219952 Q8NGQ2 AB065737;ABBA01021483;AF399609;AMYH01003655;AP003401;BC151146;BC151147;BK004291;CH471076;CS248226;NM_001005186 AAI51147;AAI51148;AAK95094;BAC05958;CAJ56638;DAA04689;EAW73795;NP_001005186;Q8NGQ2 Hs.690432 1782234 SHGC-101389 OR11-226 OTTHUMP00000239564;olfactory receptor 6Q1;olfactory receptor OR11-226 APPROVED protein-coding ENSG00000172381 15302 15068 VALIDATED 1353515 OR7A8P olfactory receptor, family 7, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14858674 14859306 - 14823923 14824555 - 14962923 14963555 - 12213199 26661 ABBA01051084;AC005255;AF399434;AMYH01009539;NG_003166 HG83;OR19-11;OR7A9P;OST042 APPROVED pseudo 8371 INFERRED 1344490 OR6T1 olfactory receptor, family 6, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120972755 120973726 - 123318784 123319755 - 123813574 123814545 - 1580863;6480464 14983052;12477932;19322201;22505724 219874 Q8NGN1 AB065759;ABBA01031265;AC019108;AMYH01004102;AP002407;BC136906;BK004315;CH471065;CS248094;NM_001005187 AAI36907;BAC05979;CAJ56574;DAA04713;EAW67562;NP_001005187;Q8NGN1 Hs.553638 2219392 OR6T1__5946 OR11-277 OTTHUMP00000231615;olfactory receptor 6T1;olfactory receptor OR11-277 APPROVED protein-coding ENSG00000181499 14848 15069 PROVISIONAL 1349187 OR6X1 olfactory receptor, family 6, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120783678 120784616 - 123129498 123130436 - 123624288 123625226 - 1580863;6480464 14983052;12477932 390260 Q8NH79 AB065510;ABBA01031269;AMYH01004102;AP000868;BC136855;BC136856;BK004362;CH471065;CS248142;NM_001005188 AAI36856;AAI36857;BAC05758;CAJ56598;DAA04760;EAW67555;NP_001005188;Q8NH79 Hs.553759 1298267;2219394 D11S4464;OR6X1__5948 OR11-270 OTTHUMP00000231701;olfactory receptor 6X1;olfactory receptor OR11-270 APPROVED protein-coding ENSG00000221931 14737 15070 PROVISIONAL 1345347 OR6V1 olfactory receptor, family 6, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 137586300 137587241 + 142459560 142460501 + 142749438 142750379 + 14983052;12732197;12690205;12477932 346517 Q8N148 AACC02000106;AB065697;AB065873;ABBA01034132;AC099652;AMYH01018007;BC137044;BK004392;CH236959;CH471198;CS248340;NM_001001667 AAI37045;BAC05920;BAC06091;CAJ56692;DAA04790;EAL23780;EAW51889;NP_001001667;Q8N148 Hs.554721 2110623 OR6V1__5947 GPR138 OTTHUMP00000212866;olfactory receptor 6V1;olfactory receptor OR7-3 APPROVED protein-coding ENSG00000225781 15090 11417 PROVISIONAL 1347515 OR7D1P olfactory receptor, family 7, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9241467 9242115 + 9207020 9207668 + 9346020 9346668 + 9500546 26656 ABBA01029982;AC006271;AMYH01009459;NG_002212;U86251 OR19-131;OR19-A;OR7D3;OR7D3P APPROVED pseudo ENSG00000188314 8377 INFERRED 1346100 OR7D11P olfactory receptor, family 7, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9222311 9222512 + 9187764 9188165 + 9326864 9327065 + 403295 ABBA01029983;AC011464;AMYH01009459;NG_005822;NG_027953 APPROVED pseudo 31308 INFERRED 1350213 OR6W1P olfactory receptor, family 6, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 137596243 137597744 - 142469503 142471004 - 142759381 142760882 - 6480464 12477932;12213199 89883 Q8NGD8 AACC02000106;AB065875;AB065957;ABBA01034132;AC099652;AF286696;AF399607;AMYH01018007;BC069382;BC074961;BC074962;CH236959;NR_002140 BAC06093;BAC06170 Hs.339818 5492711;5493957 UniSTS:480518;UniSTS:482110 OR6W1;sdolf APPROVED pseudo 15091 PROVISIONAL 1604782 OR7E100P olfactory receptor, family 7, subfamily E, member 100 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q13.2 110651716 110652730 - 113725623 113726837 - 112243033 112244047 - 81430 ABBA01061663;AC092692;AMYH01013392;NG_004266 OR7E135P APPROVED pseudo 15048 INFERRED 1348151 OR7E101P olfactory receptor, family 7, subfamily E, member 101 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q14.13 28090164 28090837 + 45932571 45933444 + 47034671 47035344 + 81138 AL138686;AL157365;NG_004175 2220514 UniSTS:483775 APPROVED pseudo 15342 INFERRED 1347846 OR7E102P olfactory receptor, family 7, subfamily E, member 102 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q11.1 90538137 90539132 - 95575953 95577148 + 96212327 96213322 + 9847074 400984 ABBA01009504;AC009237;AMYH01010698;NG_004385 OR7E102 APPROVED pseudo 15043 INFERRED 1605615 OR7E104P olfactory receptor, family 7, subfamily E, member 104 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q21.31 45311529 45312274 - 63308962 63309907 - 64411061 64411806 - 81137 ABBA01050256;AL137719;AL445238;AMYH01005179;NG_004174 Hs.735050 APPROVED pseudo 15343 INFERRED 1351798 OR7E105P olfactory receptor, family 7, subfamily E, member 105 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q21 32090704 32091699 + 51293358 51294553 + 52223709 52224704 + 14983052;12213199 81116 Q8NGD7 AB065878;ABBA01018156;AF399405;AL079307;AMYH01005727;BK004809;NG_004171 OR14-NP1 APPROVED pseudo 15364 INFERRED 1353359 OR7D2 olfactory receptor, family 7, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9191715 9194938 + 9157270 9160493 + 9296270 9299493 + 6480464 14983052;14702039;12213199;1370859;12175488 162998 Q96RA2 AB065928;ABBA01029983;AC011464;AF399537;AK095468;AMYH01009459;BK004265;CH471106;CS248310;NM_175883;X64975 AAI41585;AAK95022;BAC04554;BAC06143;CAJ56678;DAA04663;EAW84017;NP_787079;Q96RA2 Hs.531755 5020881;5020948;5022578;5022651;5109281;5493221 D11S2921;D1S1423;D1S1425;G35510;L17709;UniSTS:485363 FLJ38149;HTPCRH03;OR19-10;OR19-4 olfactory receptor 19-4;olfactory receptor 7D2;olfactory receptor OR19-10 APPROVED protein-coding ENSG00000188000 8378 17784 VALIDATED 1349640 OR7E106P olfactory receptor, family 7, subfamily E, member 106 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q21 32096808 32097754 - 51299462 51300608 - 52229762 52230795 - 12213199 81115 ABBA01018156;AF399387;AL079307;AMYH01005727;NG_004170 OR14-NP2;OR7E34P;OR7E40P;OST011;OST215 APPROVED pseudo 15365 INFERRED 1353689 OR7E108P olfactory receptor, family 7, subfamily E, member 108 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63948160 63949183 - 92553220 92554443 - 93513500 93514522 - 81363 ABBA01012841;AL354862;AL446024;AMYH01021503;NG_004254 OST726 APPROVED pseudo 15117 INFERRED 1349880 OR7E109P olfactory receptor, family 7, subfamily E, member 109 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63939435 63940381 - 92544504 92545650 - 93504784 93505730 - 12213199 401540 ABBA01012841;AF399394;AL446024;AMYH01021503;NG_004386 OR7E113P;OST721 APPROVED pseudo 15118 INFERRED 1352117 OR7E110P olfactory receptor, family 7, subfamily E, member 110 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 p13 14957750 14958345 - 15068781 15069576 - 15028875 15029470 - 81354 ABBA01034601;AL360083;AMYH01002055;NG_004251 OR7E68P;OR7E71P;OR7E72P;OR7E73P;OR7E74P;OR7E75P;OR912-108;OR912-109;OR912-110;OR912-46;hg523;hg674 APPROVED pseudo 15126 INFERRED 1342642 OR7E10P olfactory receptor, family 7, subfamily E, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11525428 11526414 - 12604832 12606018 - 12560561 12561547 - 12213199;9787077 10823 ABBA01021634;AC068587;AF399403;AMYH01018526;NG_002183 OR11-1 APPROVED pseudo 8381 INFERRED 1605616 OR7E111P olfactory receptor, family 7, subfamily E, member 111 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q21.32 49378875 49379855 + 67374277 67375457 + 68476376 68477356 + 81136 ABBA01050293;AL353580;AMYH01005190;NG_004173 APPROVED pseudo 15344 INFERRED 1343886 OR7E116P olfactory receptor, family 7, subfamily E, member 116 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63429029 63430054 + 92034100 92035325 + 92994381 92995406 + 12213199 81358 ABBA01012839;AF399421;AL389888;AMYH01021502;NG_004253 OR7E112P;OST733 APPROVED pseudo 15122 INFERRED 1351088 OR7E117P olfactory receptor, family 7, subfamily E, member 117 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 3626122 3627147 - 3577350 3578575 - 3620873 3621898 - 399857 ABBA01032057;AC060812;AMYH01003347;NG_004384 OST716 APPROVED pseudo 15303 INFERRED 1349029 OR7E115P olfactory receptor, family 7, subfamily E, member 115 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 p13 14978663 14979601 - 15089793 15090731 - 15049787 15050725 - 14983052;12213199 81353 ABBA01034601;AF399411;AL157391;AMYH01002055;BK004797;NG_004692 OR10-2;OST704 APPROVED pseudo 15127 INFERRED 1354022 OR7E11P olfactory receptor, family 7, subfamily E, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 64836308 64836971 - 67259725 67260388 - 67503149 67503812 - 9787077 10822 ABBA01024026;AF065853;AMYH01003748;AP003385;NG_002181 OR11-2;OR7E144P APPROVED pseudo 8382 INFERRED 1605781 OR7E121P olfactory receptor, family 7, subfamily E, member 121 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p12.3 76391559 76392581 - 75730392 75731614 - 75647801 75648823 - 402133 ABBA01030988;AC108724;AMYH01013292;NG_004395 APPROVED pseudo 15049 INFERRED 1353733 OR7E122P olfactory receptor, family 7, subfamily E, member 122 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p25.3 8664702 8665622 + 8704820 8705940 + 8729920 8730840 + 81428 ABBA01020417;AC034187;AMYH01012962;NG_004265 OST719 APPROVED pseudo ENSG00000215160 15050 INFERRED 1352731 OR7E125P olfactory receptor, family 7, subfamily E, member 125 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.1 7083212 7092500 - 7104141 7105109 - 11705801 389616 Q8NHA1 AB065482;AF228730;AF359416;AMYH01018310;NG_004256 BAC05735 Hs.457899 PJCG6 APPROVED pseudo 15098 INFERRED 1605613 OR7E128P olfactory receptor, family 7, subfamily E, member 128 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 68906411 68907442 + 71282001 71283232 + 71604454 71605485 + 81175 ABBA01017544;AMYH01003790;AP002495;NG_004186 APPROVED pseudo 15305 INFERRED 1605612 OR7E126P olfactory receptor, family 7, subfamily E, member 126 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 68915905 68917323 + 71291598 71293016 + 71613950 71615368 + 12213199;9787077;7566098 81176 AB065487;ABBA01017544;AF065852;AF399380;AMYH01003790;AP000719;NG_002280 2021540;2100066 REN81761;stSG606540 OR11-1;hg500 APPROVED pseudo 15304 INFERRED 1342530 OR7E129P olfactory receptor, family 7, subfamily E, member 129 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 128167311 128168335 - 131222989 131224213 - 129740398 129741422 - 12213199 391576 AB065488;ABBA01059211;AC083906;AF399416;AMYH01013484;NG_004264 APPROVED pseudo 15052 INFERRED 1350838 OR7E130P olfactory receptor, family 7, subfamily E, member 130 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123833012 123833974 + 126904818 126905980 + 125422229 125423191 + 389144 ABBA01016408;AF186996;AMYH01013443;NG_004314 OST702 APPROVED pseudo 15053 INFERRED 1344637 OR7E12P olfactory receptor, family 7, subfamily E, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15 3401643 3402584 - 3368613 3369554 - 3411937 3413145 - 6480464 12213199;9787077;7829101 10821 ABBA01032064;AC123788;AF065854;AF399383;AMYH01003346;BI495655;NR_044999 Hs.637689;Hs.741779 2021540;5017104 REN81761;REN81769 HG1058;OR11-3;OR7E58P;OR7E79P;OR7E81P;OST021 APPROVED pseudo ENSG00000189398 8383 VALIDATED 1347472 OR7E138P olfactory receptor, family 7, subfamily E, member 138 pseudogene 282730 19559 1354415 OR7E13P olfactory receptor, family 7, subfamily E, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13-q14.3 83855035 83855688 - 86221296 86221949 - 86543648 86544301 - 6480464 12213199;11705801;9787077 10820 ABBA01017320;AF065855;AF238487;AF399398;AMYH01003851;AP000654;NG_002177 Hs.684491 OR11-4;OR7E44P;OST022;PJCG2 APPROVED pseudo 8384 INFERRED 1350111 OR7E136P olfactory receptor, family 7, subfamily E, member 136 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6876165 6877131 - 6872712 6873878 - 6906287 6907253 - 9847074 155340 ABBA01056512;AC079804;AMYH01017055;NG_004291 OR7E139P;OR7E147P APPROVED pseudo 19557 INFERRED 1351380 OR7E145P olfactory receptor, family 7, subfamily E, member 145 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 64823088 64824113 - 67246406 67247631 - 67489930 67490955 - 390215 ABBA01024026;AMYH01003748;AP003385;NG_004336 APPROVED pseudo 19618 INFERRED 1352217 OR7E148P olfactory receptor, family 7, subfamily E, member 148 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 p13.31 8471425 8472577 - 8580257 8581209 - 282801 AC092865;NG_004303 OR7E150P APPROVED pseudo 19642 INFERRED 1350242 OR7E149P olfactory receptor, family 7, subfamily E, member 149 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 p13.31 8481166 8482346 - 8589998 8590978 - 282756 AC092865;NG_004297 APPROVED pseudo 19589 INFERRED 1343510 OR7C1 olfactory receptor, family 7, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14805756 14806718 - 14770986 14771948 - 14909986 14910948 - 1580863;6480464 9268701;15057824;14983052;12477932;12213199;9119360 26664 O76099;Q17RS1 ABBA01051081;AC005255;AF399546;AMYH01009539;BC117212;BK004220;NM_198944;X89676 AAC25625;AAI17213;AAK95031;ADR83145;CAA61823;DAA04618;NP_945182;O76099 Hs.466053 5492985 UniSTS:483557 CIT-HSP-146E8;HSTPCR86P;OR19-5;OR7C4;TPCR86 olfactory receptor 7C1;olfactory receptor 7C4;olfactory receptor OR19-16;olfactory receptor TPCR86;olfactory receptor, family 7, subfamily C, member 4 APPROVED protein-coding ENSG00000127530 8373 17783 VALIDATED 1348707 OR7E154P olfactory receptor, family 7, subfamily E, member 154 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23 7091451 7092619 - 7562684 7563640 - 14702039 403296 AB065483;AC084121;AK122996;AMYH01018430;AX645923;NG_004634 BAC05736;CAD69097 Hs.457899 5110943 D7S1662 FLJ16768 APPROVED pseudo 31309 INFERRED 1344575 OR7E155P olfactory receptor, family 7, subfamily E, member 155 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 23070478 23071503 - 40911873 40913098 - 42013973 42014998 - 403297 ABBA01021268;AL731858;AMYH01005064;NG_004435 APPROVED pseudo 31310 INFERRED 1344773 OR7C2 olfactory receptor, family 7, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14948010 14948972 + 14913301 14914260 + 15052301 15053260 + 1580863;6480464 15057824;14983052;12477932;12213199;9500546;22552337 26658 O60412 ABBA01051087;AC004659;AF399545;AMYH01009541;BC110063;BK004213;CH471106;NM_012377;U86255 AAC15755;AAC39626;AAI40247;AAI41625;AAK95030;DAA04611;EAW84455;NP_036509;O60412 Hs.589620 5492841 UniSTS:483013 CIT-HSP-87M17;OR19-18;OR7C3 olfactory receptor 19-18;olfactory receptor 7C2;olfactory receptor 7C3;olfactory receptor OR19-22;olfactory receptor, family 7, subfamily C, member 3 APPROVED protein-coding ENSG00000127529 8374 15072 PROVISIONAL 1345998 OR7E157P olfactory receptor, family 7, subfamily E, member 157 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23 7436819 7437987 + 7449510 7450478 + 403219 AC134684;NG_004633 APPROVED pseudo 31231 INFERRED 1343587 OR7E158P olfactory receptor, family 7, subfamily E, member 158 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.1 11814714 11815813 - 11777405 11778304 - 392194 ABBA01026877;AC107918;AMYH01018483;NG_004376 APPROVED pseudo 31232 INFERRED 1345051 OR7E159P olfactory receptor, family 7, subfamily E, member 159 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 32105501 32105809 - 51308156 51308664 - 52238506 52238814 - 403299 ABBA01018156;AL079307;AMYH01005727;NG_004436 APPROVED pseudo 31312 INFERRED 1605113 OR7E15P olfactory receptor, family 7, subfamily E, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11518753 11519408 - 12598250 12598905 - 12553879 12554534 - 12213199;9787077 8588 ABBA01021634;AC068587;AF399386;AMYH01018526;NG_002168 OR11-392;OR7E42P;OR7E80P;OST001 APPROVED pseudo 8386 INFERRED 1353918 OR7A5 olfactory receptor, family 7, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.1 14832918 14835055 - 14798139 14800276 - 14937139 14939276 - 1580863;6480464 9119360;15489334;15057824;14983052;12477932;12213199;9268701;1370859;21832049 26659 Q15622 ABBA01051082;AC005255;AF399543;AK312475;AMYH01009539;BC104809;BK004221;CH471106;NM_017506;X64976;X89677;Y10530 AAC25626;AAI04810;AAK95028;BAG35379;CAA61824;CAA71558;DAA04619;EAW84450;NP_059976;Q15622 Hs.137573;Hs.690626 5492897;5494003 UniSTS:480699;UniSTS:483182 HTPCR2 olfactory receptor 7A5;olfactory receptor OR19-17;olfactory receptor TPCR92;olfactory receptor, family 7, subfamily A, member 5 pseudogene APPROVED protein-coding 8368 17782 VALIDATED 1348777 OR7E160P olfactory receptor, family 7, subfamily E, member 160 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.1 11892524 11929558 - 11855115 11892149 - 402333 ABBA01026874;ABBA01026875;AC107918;AC130366;AMYH01018483;NG_004399 APPROVED pseudo 31233 INFERRED 1348210 OR7E161P olfactory receptor, family 7, subfamily E, member 161 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 10915608 10916603 - 11823386 11824581 - 11786077 11787072 - 389626 ABBA01026877;AC107918;AMYH01018483;NG_004315 APPROVED pseudo 31234 INFERRED 1606626 OR7E162P olfactory receptor, family 7, subfamily E, member 162 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 3800802 3801836 - 3872931 3874165 - 3903233 3904267 - 12213199 442101 ABBA01008228;AC147876;AF399373;AMYH01013898;NG_004863 OR7E77;OR7E77P;OST060 APPROVED pseudo ENSG00000234386 28374 INFERRED 7207649 OR7E163P olfactory receptor, family 7, subfamily E, member 163, pseudogene 4 p16.3 3891243 3891892 - 100131415 ABBA01008228;AC147876;AMYH01013898 pseudo 45040 MODEL 1345255 OR7E16P olfactory receptor, family 7, subfamily E, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9197550 9198198 + 9163105 9163753 + 9302105 9302753 + 9500546 26473 ABBA01029983;AC011464;AMYH01009459;NG_002189;U86252 OR19-133;OR19-9;OR7E17P;OR7E60P APPROVED pseudo 8387 INFERRED 1353005 OR7E18P olfactory receptor, family 7, subfamily E, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9267098 9267918 - 9232553 9233573 - 9371653 9372473 - 1580863 9119360 390885 Q15618 ABBA01029979;AC006271;AMYH01009459;NG_004360;X89673 CAA61820 Hs.381327 5017104 REN81769 HSTPCR26P;OR19-14;OR7E61;OR7E98P;TPCR26 APPROVED pseudo 8389 INFERRED 1346922 OR7E19P olfactory receptor, family 7, subfamily E, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9271514 9272490 - 9236969 9238145 - 9376069 9377045 - 1580863 9119360 26651 Q9UPJ0 ABBA01029979;AC006271;AMYH01009459;NG_002356;X89668 AAD03354 Hs.537315 HSCIT-B-440L2;OR19-7;OR7E65;TPCR11;tpcr110 APPROVED pseudo 8390 INFERRED 1344049 OR7E20P olfactory receptor, family 7, subfamily E, member 20 pseudogene 10036190 9434 8392 1344405 OR7E21P olfactory receptor, family 7, subfamily E, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.1 128180246 128181299 - 131235922 131237175 - 129753331 129754384 - 10036190 9432 ABBA01059211;AC083906;AMYH01013484;NG_004123 OR4DG;OR7E127P;OR7E141P;OR7E142P;OR7E49P;OST035 APPROVED pseudo 8393 INFERRED 1348693 OR7E1P olfactory receptor, family 7, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 65075208 65076230 - 67498182 67499404 - 67741705 67742727 - 9847074 341128 ABBA01024020;AC004923;AMYH01003752;NG_004307 APPROVED pseudo 8391 INFERRED 1348348 OR7E23P olfactory receptor, family 7, subfamily E, member 23 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 19177002 19177984 + 32915142 32916324 + 33993372 33994354 + 12213199;10830953 391279 ABBA01057320;AF399396;AMYH01012202;AP000275;NG_004368 1804490;1804760;2021538;2021540;2021542;2021544;2021546;2021548;2021550;2021552;2021554;2021556;2100064;2100066 ECD03170;ECD03312;REN81759;REN81761;REN81762;REN81763;REN81764;REN81766;REN81767;REN81770;REN81771;REN81772;stSG606539;stSG606540 OR21-1;OR21-3;OR7E92P APPROVED pseudo 8395 INFERRED 1318908 OR7A17 olfactory receptor, family 7, subfamily A, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.12 14886987 14887916 - 14852238 14853167 - 14991238 14992167 - 1580863;6480464 15489334;15057824;14983052;12477932;12213199;1370859 26333 O14581;Q9UEB1 ABBA01051086;AC002988;AC005255;AF399541;AMYH01009539;BC101587;BC117357;BK004206;CH471106;NM_030901;X64993 AAB82060;AAC25628;AAI01588;AAI17358;AAK95026;ADR82902;DAA04604;EAW84453;NP_112163;O14581 Hs.247717 5492595;5492895 UniSTS:481739;UniSTS:483179 BC85395_4;HTPCRX19;MGC126636 olfactory receptor 7A17;olfactory receptor OR19-20;olfactory receptor, family 7, subfamily A, member 17 APPROVED protein-coding ENSG00000185385 8363 17781 PROVISIONAL 1342582 OR7E25P olfactory receptor, family 7, subfamily E, member 25 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9210376 9211356 + 9175828 9177008 + 9314928 9315908 + 26647 ABBA01029983;AC011464;AMYH01009459;NG_004132 CIT-B-440L2;OR19-12;OR19-C APPROVED pseudo 8397 INFERRED 1351518 OR7E26P olfactory receptor, family 7, subfamily E, member 26 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 p13 14970074 14970728 - 15081204 15081857 - 15041198 15041851 - 12213199;9500546 401637 ABBA01034601;AF399375;AF399384;AL157391;AMYH01002055;NG_002315;U86217;U86218;U86219;U86290;U86291;U86292;U86293;U86295;U86301 OR1-51;OR1-72;OR1-73;OR7E67P;OR7E68P;OR7E69P;OR7E70P;OR7E71P;OR7E72P;OR7E73P;OR7E74P;OR7E75P;OR912-108;OR912-109;OR912-110;OR912-46;OR912-95;hg523;hg674 APPROVED pseudo 8398 INFERRED 1606324 OR7E22P olfactory receptor, family 7, subfamily E, member 22 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p13 75343277 75344302 - 75488226 75489451 - 75405636 75406661 - 10036190;9817916 9431 ABBA01030984;AC131233;AMYH01013288;NG_004122 OR3.6;OR6DG APPROVED pseudo 8394 INFERRED 1353861 OR7E28P olfactory receptor, family 7, subfamily E, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 153335642 153336588 + 159427003 159428149 + 159718858 159719804 + 9847074 26645 ABBA01004854;AC064843;AMYH01011203;NG_004131 OR7E107P;OR7E133P;OR7E27P;OST128;hg616 APPROVED pseudo 8400 INFERRED 1352158 OR7E29P olfactory receptor, family 7, subfamily E, member 29 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123841761 123842705 + 126913568 126914712 + 125430979 125431923 + 12213199 26644 ABBA01016407;AF186996;AF399389;AMYH01013443;NG_004130 OR7E30P;OST032;OST339 APPROVED pseudo 8401 INFERRED 1347286 OR7E2P olfactory receptor, family 7, subfamily E, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q14.2 83879430 83880266 - 86245706 86246542 - 86567973 86568996 - 12213199;9787077 8587 ABBA01017320;AF065857;AF399424;AMYH01003851;AP000654;NR_045004 Hs.741959 OR11-6;OR7E143P;OR7E51P;OR7E52P;OR7F2P;OST245;hg94 APPROVED pseudo ENSG00000255203 8402 VALIDATED 1605398 OR7E33P olfactory receptor, family 7, subfamily E, member 33 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q21.32 49387542 49388749 + 67383043 67384250 + 68485042 68486249 + 26640 ABBA01050293;AC055823;AL353580;AMYH01005190;NG_002211 hg688 APPROVED pseudo 8406 INFERRED 1343275 OR7E140P olfactory receptor, family 7, subfamily E, member 140 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 p13.31 8458543 8459738 - 8567375 8568370 - 12477932 344729 AC092865;NG_004309 APPROVED pseudo 19561 INFERRED 1342630 OR7E36P olfactory receptor, family 7, subfamily E, member 36 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 13 q14 23061903 23062897 - 40903300 40904494 - 42005400 42006394 - 12213199 26637 ABBA01021268;AL731858;AMYH01005064;NG_004129 2021552 REN81770 OR7E119P;OST024 APPROVED pseudo 8409 INFERRED 1351584 OR7E37P olfactory receptor, family 7, subfamily E, member 37 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2011] 13 13 40915060 40915723 + 42016700 42017902 + 12213199;8889549 100506759 AA235800;ABBA01021268;AI081342;AL354833;AL731858;AMYH01005064;NR_002163 Hs.507861;Hs.507862;Hs.591218 FLJ21779;OR7E48P;OST193;hg533 APPROVED pseudo 8410 PROVISIONAL 1345032 OR7E35P olfactory receptor, family 7, subfamily E, member 35 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 10239369 10240281 + 9365514 9366627 + 9756517 9757430 + 1580863 9847074 391632 Q9P1R1 ABBA01032505;AC098976;AF073924;AMYH01013992;NG_004371 AAF72204 Hs.404129 OR7E120;OST018 APPROVED pseudo 8408 INFERRED 1346280 OR7D4 olfactory receptor, family 7, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9220023 9220961 - 9185575 9186513 - 9324526 9325547 - 1580863;6480464 17873857;14983052;12213199;22567099;12477932;21093532;22044667 125958 Q8NG98 AB065929;ABBA01029983;AC011464;AF399429;AMYH01009459;BC137147;BC137162;BK004226;CH471106;CS248314;EU049291;NG_027953;NM_001005191 AAI37148;AAI37163;ABV66282;BAC06144;CAJ56680;DAA04624;EAW84021;NP_001005191;Q8NG98 Hs.446910 OR19-7;OR19-B;OR19B;OR7D4P;hg105 odorant receptor family 7 subfamily D member 4 RT;odorant receptor family subfamily D member 4RT;olfactory receptor 7D4;olfactory receptor OR19-7;olfactory receptor, family 7, subfamily D, member 4 pseudogene APPROVED protein-coding ENSG00000174667 8380 15073 611538 REVIEWED 1347274 OR7E38P olfactory receptor, family 7, subfamily E, member 38 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 92289350 92290335 - 97433240 97434425 - 97595404 97596389 - 12213199 389537 AACC02000086;ABBA01045740;AC004967;AF399392;AMYH01017710;CH236956;NG_002209 OR7E76;OST127 APPROVED pseudo 8411 INFERRED 1347082 OR7E43P olfactory receptor, family 7, subfamily E, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 4073772 4074424 - 4227027 4227679 - 4176126 4176778 - 9500546 26475 ABBA01008244;AC011744;AMYH01013900;NG_002191;U86267 OR4-116;OR7E124P;OST712 APPROVED pseudo 8417 INFERRED 1348285 OR7E41P olfactory receptor, family 7, subfamily E, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.2 15136452 15137094 - 14965908 14966550 - 15009332 15009974 - 12213199;9787077;9500546 8583 ABBA01061097;AC090835;AF065867;AF399425;AMYH01003406;NG_002158;U86286 OR11-20;OR7E50P;OR7E95P;OR7F6P;OR8-126;hg84 APPROVED pseudo 8415 INFERRED 1349306 OR7E39P olfactory receptor, family 7, subfamily E, member 39 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6844331 6845302 - 6840879 6842050 - 6874454 6875425 - 12213199;9847074 253933 ABBA01056511;AC079882;AF399377;AMYH01017054;NG_004294 OR7E138P;hg611 APPROVED pseudo 8412 INFERRED 1353999 OR7E4P olfactory receptor, family 7, subfamily E, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13 68630539 68631461 + 71008794 71009716 + 71331146 71332068 + 12213199;9787077 8585 AB065524;ABBA01017551;AF065864;AF399418;AMYH01003788;AP000867;NG_002162 OR11-11a;OR7E9P;OR7F4P;OST289 APPROVED pseudo 8424 INFERRED 1352665 OR7E46P olfactory receptor, family 7, subfamily E, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71115537 71116483 + 71118259 71119403 + 71264852 71265796 + 9847074 402077 ABBA01075546;AC007881;AMYH01010426;NG_004394 MCEEP;OST379 APPROVED pseudo 8420 INFERRED 1343431 OR7E53P olfactory receptor, family 7, subfamily E, member 53 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123864118 123864773 + 126936026 126936681 + 125453336 125453991 + 9500546 26478 ABBA01016407;AF186996;AMYH01013444;NG_002316;U86261;U86262 OR3-142;OR3-143;OR7E132P;OR7E78;OR7E78P APPROVED pseudo 8428 INFERRED 1343489 OR7E55P olfactory receptor, family 7, subfamily E, member 55 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p12.3 75357208 75358159 - 75502154 75503304 - 75419563 75420513 - 391548 ABBA01030984;AC139453;AMYH01013288;NG_004370 OR2DG;OR3.2;OR7E56P;OR7E57P;OST007;OST013 APPROVED pseudo 8430 INFERRED 1347133 OR7E59P olfactory receptor, family 7, subfamily E, member 59 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 6889131 6890089 - 6885678 6886836 - 6919253 6920211 - 12213199;9847074 402249 ABBA01056512;AC079804;AF399374;AMYH01017055;NG_004398 OR7E137P;OR7E59;OST119 APPROVED pseudo 8434 INFERRED 1353519 OR7E62P olfactory receptor, family 7, subfamily E, member 62 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71133216 71133862 + 71136030 71136676 + 71282522 71283168 + 9500546 26479 ABBA01075547;AC007881;AMYH01010426;NG_002317;U86257;U86258;U86259;U86260 OR2-4;OR2-52;OR2-53;OR2-75;OR7E62;OR7E63;OR7E63P;OR7E64;OR7E64P;OR7E82P APPROVED pseudo 8438 INFERRED 1352476 OR7E66P olfactory receptor, family 7, subfamily E, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 p13 75335036 75335557 - 75479983 75480704 - 75397394 75397915 - 12213199;10036190;9817916 26614 ABBA01030984;AC117481;AC131233;AF399382;AMYH01013288;NG_004127 OR3.3;OR3DG;OR7E20P;OR7E6P;hg630 APPROVED pseudo 8442 INFERRED 1350690 OR7E7P olfactory receptor, family 7, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q21.3 92270243 92271249 - 97414131 97415337 - 97576295 97577301 - 392752 ABBA01045741;AC004967;AMYH01017710;NG_002208 APPROVED pseudo 8457 INFERRED 1350161 OR7E83P olfactory receptor, family 7, subfamily E, member 83 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 9994836 9996000 + 9123570 9124734 + 9514472 9515636 + 9847074 391630 ABBA01032501;AC097493;AC116655;AMYH01013987;NG_002251 OR7E134P APPROVED pseudo 14688 INFERRED 1342786 OR7E84P olfactory receptor, family 7, subfamily E, member 84 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 p16.1 9079750 9080973 + 9470652 9471875 + 9847074 390288 AC097493;AC116655;NG_002276 OR7E54P;OST185 APPROVED pseudo ENSG00000215323 14690 INFERRED 1353761 OR7E85P olfactory receptor, family 7, subfamily E, member 85 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 9965615 9966842 + 9094348 9095575 + 9485250 9486477 + 442105 Q8NHB9 AA704815;AB065455;ABBA01032500;AC097493;AC116655;AMYH01013987;AW009208;NG_002249 BAC05716 OR7E118P;OR7E88P APPROVED pseudo 14692 INFERRED 1342787 OR7E5P olfactory receptor, family 7, subfamily E, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This family member is believed to be a pseudogene. [provided by RefSeq, Jun 2009] 11 11 11 q12.1 53086349 53094051 - 55503280 55503931 - 55746179 55753881 - 1580863 14983052;14702039;12213199;9787077 219445 AB065945;ABBA01021460;AC068339;AF065865;AF399402;AK055955;AMYH01003646;AP003033;BK004660;CH471076;NR_027688 BAC06158;EAW73693 Hs.350816 5037552 D8S2279 FLJ31393;OR11-12;OR11-156;OR7F5P APPROVED pseudo ENSG00000214880 8435 VALIDATED 1345003 OR7E87P olfactory receptor, family 7, subfamily E, member 87 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13 68603965 68604612 + 70982352 70982999 + 71304704 71305351 + 14983052;9787077 8586 Q8NH46 AB065550;ABBA01017551;AF065862;AMYH01003788;AP000867;BK004803;NG_002164 BAC05793 OR11-261;OR11-9;OR7E3P;OR7F3P APPROVED pseudo 14709 INFERRED 1351852 OR7E86P olfactory receptor, family 7, subfamily E, member 86 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 p16.1 9069946 9071168 + 9460848 9462070 + 9847074 442104 Q8NH97 AB065942;ABBA01012349;AC097493;AC116655;NG_002248 BAC06156 APPROVED pseudo 14694 INFERRED 1347102 OR7E89P olfactory receptor, family 7, subfamily E, member 89 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 153326800 153327968 + 159418262 159419430 + 159710016 159711184 + 79540 ABBA01004854;AC064843;AC069348;AMYH01011203;NG_002272 APPROVED pseudo 14730 INFERRED 1343516 OR7E8P olfactory receptor, family 7, subfamily E, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 11506523 11507548 - 12585920 12587145 - 12541649 12542674 - 12213199 346708 Q8NH98 AB065485;AB065553;ABBA01021634;AC000385;AC068587;AF399408;AMYH01018526;NG_002207 BAC05738;BAC05794 OR11-11a similar to seven transmembrane helix receptor APPROVED pseudo 8458 INFERRED 1344790 OR7E90P olfactory receptor, family 7, subfamily E, member 90 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q24.1 153347890 153349063 + 159439351 159440524 + 159731105 159732278 + 79537 ABBA01004854;AC064843;AC069348;AMYH01011203;NG_002271 OR7E123P;OST705 APPROVED pseudo 14733 INFERRED 1354227 OR7E93P olfactory receptor, family 7, subfamily E, member 93 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123854057 123855227 + 126925967 126927137 + 125443277 125444447 + 79282 ABBA01016407;AC069047;AF186996;AMYH01013444;NG_002225 OR7E131P APPROVED pseudo 14780 INFERRED 1350325 OR7E94P olfactory receptor, family 7, subfamily E, member 94 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 q21.21 77804596 77804925 - 80727832 80728361 - 80508908 80509237 - 79273 ABBA01063395;AC013662;AC092542;AMYH01014333;NG_002221 APPROVED pseudo 14789 INFERRED 1604141 OR7E96P olfactory receptor, family 7, subfamily E, member 96 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 8 8 p23.1 7934811 7935979 + 7897501 7898469 + 401450 AC105233;NG_004629 APPROVED pseudo 14815 INFERRED 1352513 OR7E97P olfactory receptor, family 7, subfamily E, member 97 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 3 3 3 q21.2 123876756 123877726 + 126948562 126949732 + 125465972 125466942 + 79492 ABBA01016407;AF061779;AF186996;AMYH01013444;NG_002256 APPROVED pseudo 14834 INFERRED 1351989 OR7E99P olfactory receptor, family 7, subfamily E, member 99 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 4055852 4056876 - 4209007 4210231 - 4158206 4159230 - 9847074 81419 ABBA01008244;AC011744;AMYH01013900;NG_004262 APPROVED pseudo 15059 INFERRED 1350658 OR7G1 olfactory receptor, family 7, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9120709 9121874 - 9086274 9087439 - 9225504 9226439 - 1580863 14983052;12213199 125962 Q8NGA0 AB065926;ABBA01029985;AC011464;AF399538;AMYH01009459;BK004267;NM_001005192 AAK95023;BAC06141;DAA04665;NP_001005192;Q8NGA0 Hs.553576 OR19-15;OR19-8;OR7G1P OTTHUMP00000237797;olfactory receptor 19-15;olfactory receptor 7G1;olfactory receptor OR19-8 APPROVED protein-coding ENSG00000161807 8465 15074 PROVISIONAL 1345965 OR7G15P olfactory receptor, family 7, subfamily G, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9128194 9128600 - 9093660 9094263 - 9232759 9233162 - 403300 ABBA01029985;AC011464;AMYH01009459;NG_004437 APPROVED pseudo 31313 INFERRED 1348157 OR7G2 olfactory receptor, family 7, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9108385 9109422 - 9073945 9074982 - 9212945 9213982 - 6480464 14983052;12213199 390882 Q8NG99 AB065927;ABBA01029985;AC011464;AF399539;AMYH01009459;BK004268;CH471106;CS248316;NM_001005193 AAK95024;BAC06142;CAJ56681;DAA04666;EAW84007;NP_001005193;Q8NG99 Hs.553774 OR19-6;OST260 OR19-13;olfactory receptor 19-13;olfactory receptor 7G2;olfactory receptor OR19-6 APPROVED protein-coding ENSG00000170923 8466 15075 PROVISIONAL 1345338 OR7G3 olfactory receptor, family 7, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9132131 9133069 - 9097688 9098626 - 9236688 9237626 - 1580863;6480464 14983052;12213199;23314748;22044667 390883 Q8NG95 AB065932;ABBA01029985;AC011464;AF399540;AMYH01009459;BK004266;CS248312;NM_001001958 AAK95025;BAC06147;CAJ56679;DAA04664;NP_001001958;Q8NG95 Hs.553775 OST085 OTTHUMP00000230045;olfactory receptor 7G3;olfactory receptor OR19-9 APPROVED protein-coding ENSG00000170920 8467 15076 PROVISIONAL 1604686 OR7H1P olfactory receptor, family 7, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9284555 9285491 - 9250009 9251145 - 9389109 9390045 - 12213199 390886 ABBA01029979;AC006271;AMYH01009459;NG_002205 OR7H1 APPROVED pseudo 8468 INFERRED 1346579 OR7E14P olfactory receptor, family 7, subfamily E, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 p15.1 17200722 17201373 + 17030378 17031029 + 17073433 17074591 + 9787077;12477932 10819 Q6PK25 ABBA01061071;AC116533;AF065856;AMYH01003413;BC008657;NR_045002 AAH08657 Hs.523504 OR11-5;OR7E151P APPROVED pseudo ENSG00000184669 8385 VALIDATED 1353945 OR7E156P olfactory receptor, family 7, subfamily E, member 156 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 13 13 q21.31 63209569 63214702 + 64311568 64316701 + 14702039;12477932 283491 ABBA01050253;AK097469;AK097490;AK097573;AL445989;AMYH01005172;AMYH01005173;BC113028;BC113029;NR_002171 Hs.363054;Hs.694575 APPROVED pseudo 31311 VALIDATED 1345471 OR7L1P olfactory receptor, family 7, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] X X X q26.2 131116536 131117618 + 130557676 130558958 + 130730096 130731178 + 79499 ABBA01042141;AL109853;AMYH01022982;NG_002258 APPROVED pseudo 14827 INFERRED 1353731 OR7M1P olfactory receptor, family 7, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128225879 128226428 - 135144615 135145364 + 135294726 135295275 + 81352 ABBA01006221;AL161645;AMYH01003243;NG_004250 APPROVED pseudo 15128 INFERRED 1348532 OR7K1P olfactory receptor, family 7, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 14 14 14 q12 5691435 5692442 + 24896710 24897913 + 25826971 25827974 + 81114 ABBA01061351;AL132827;AMYH01005617;NG_004167 APPROVED pseudo 15366 INFERRED 1349931 OR7H2P olfactory receptor, family 7, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 5 5 5 q21.1 97099564 97100461 - 101179386 101180483 - 101151587 101152484 - 403301 ABBA01069155;AC113416;AMYH01015509;NG_004438 APPROVED pseudo 31314 INFERRED 1353251 OR8A2P olfactory receptor, family 8, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121490641 121491603 + 123835570 123836732 + 124330461 124331423 + 390273 ABBA01031258;AMYH01004103;AP000916;NG_004341 APPROVED pseudo 15306 INFERRED 1342881 OR8B10P olfactory receptor, family 8, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121546385 121547317 - 123891316 123892448 - 124386206 124387138 - 390274 ABBA01031256;AMYH01004103;AP000916;NG_004342 APPROVED pseudo 14751 INFERRED 1350816 OR8A3P olfactory receptor, family 8, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 121561686 121562064 + 123906612 123907190 + 124401503 124401881 + 403302 ABBA01031256;AMYH01004103;AP000916;NG_004439 APPROVED pseudo 31315 INFERRED 1351971 OR7E24 olfactory receptor, family 7, subfamily E, member 24 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 9257168 9258187 + 9222720 9223739 + 9361720 9362739 + 15057824;14983052;12213199;11385110;9268701;12477932 26648 O43789;Q6IFN5 ABBA01029980;AC006271;AF399400;AMYH01009459;BC146920;BK004227;NM_001079935;Y10529 AAD03353;AAI46921;AAI56696;CAA71557;DAA04625;NP_001073404;Q6IFN5 Hs.129832 HSHT2;OR19-8;OR7E24P;OR7E24Q olfactory receptor 7E24;olfactory receptor OR19-14 APPROVED protein-coding ENSG00000237521 8396 PROVISIONAL 1605114 OR8B1P olfactory receptor, family 8, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121395331 121396303 - 123740525 123741497 - 124235315 124236287 - 6480464 12213199;9787077 8582 AB065540;ABBA01031258;AMYH01004103;AP001804;NG_002156 OR11-561;OR8B11P APPROVED pseudo 8470 INFERRED 1354454 OR8B3 olfactory receptor, family 8, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121426310 121427251 - 123771516 123772457 - 124266306 124267247 - 1580863 14983052 390271 Q8NGG8 AB065827;AB065830;ABBA01031258;AC002556;AMYH01004103;AP001804;BK004204;CH471065;NM_001005467 BAC06046;BAC06049;DAA04602;EAW67581;NP_001005467;Q8NGG8 Hs.690456 OR11-311 OTTHUMP00000231630;olfactory receptor 8B3;olfactory receptor OR11-311 APPROVED protein-coding ENSG00000196661 8472 15079 PROVISIONAL 1349154 OR7E31P olfactory receptor, family 7, subfamily E, member 31 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 9 9 9 q22.2 63413154 63413810 + 92018328 92018984 + 92978508 92979164 + 14983052;12477932;12213199 375601 ABBA01012838;AF399390;AL389888;AMYH01021502;BK004731;NG_004666 MGC72080;OR7E114P;OR7E32P;OR7E45P;OR9-4;OST016;OST049;OST205 APPROVED pseudo 8404 INFERRED 1352095 OR8B5P olfactory receptor, family 8, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q25 121387503 121388305 - 123732615 123733617 - 124227505 124228307 - 26592 ABBA01031258;AC002556;AMYH01004103;AP001804;NG_002204 APPROVED pseudo 8474 INFERRED 1350735 OR8B2 olfactory receptor, family 8, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 121412320 121413261 - 123757508 123758449 - 124252298 124253239 - 1580863;6480464 14983052;12213199;22939629 26595 Q8NGG9;Q96RD0 AB065826;AB065829;ABBA01031258;AC002556;AF399508;AMYH01004103;AP001804;BK004203;BK004500;CH471065;CS248236;NM_001005468 AAK94993;BAC06045;BAC06048;CAJ56643;DAA04601;DAA04898;EAW67580;NP_001005468;Q96RD0 Hs.576944 2109609 OR8B2_9498 OR11-309;OR11-310 OTTHUMP00000231629;olfactory receptor 8B2;olfactory receptor OR11-309;olfactory receptor OR11-310 APPROVED protein-coding ENSG00000204293 8471 15078 PROVISIONAL 1348989 OR8B7P olfactory receptor, family 8, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q25 121354685 121355303 - 123699795 123700611 - 124194685 124195303 - 26590 ABBA01031259;AC002556;AMYH01004103;AP001804;NG_002202 OR8B13P APPROVED pseudo 8476 INFERRED 1345960 OR8B6P olfactory receptor, family 8, subfamily B, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q25 121368707 121369607 - 123713818 123714918 - 124208708 124209608 - 26591 ABBA01031258;AC002556;AMYH01004103;AP001804;NG_002203 APPROVED pseudo 8475 INFERRED 1345147 OR8B9P olfactory receptor, family 8, subfamily B, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121511154 121511638 - 123856184 123856669 - 124350974 124351459 - 10706615 79316 ABBA01031257;AF179764;AF179765;AMYH01004103;AP000916;NG_002322 APPROVED pseudo 14746 INFERRED 1352903 OR8C1P olfactory receptor, family 8, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121406859 121407533 - 123752047 123752721 - 124246837 124247511 - 9787077;9500546 8580 ABBA01031258;AF065872;AMYH01004103;AP001804;NG_002154;U86289 OR11-175;OR8C3P;OR8C4P;OR912-106;OR912-45 APPROVED pseudo 8478 INFERRED 1346572 OR7E47P olfactory receptor, family 7, subfamily E, member 47 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.13 51303562 51304507 + 50787269 50788414 + 52501102 52502047 + 12477932;8647456 26628 ABBA01031626;AC078864;AMYH01004471;BC042060;NG_004128;X87825 Hs.524431 OR7E141 APPROVED pseudo 8421 INFERRED 1352609 OR7E91P olfactory receptor, family 7, subfamily E, member 91 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 p13.3 71101893 71107750 + 71104711 71110569 + 71251205 71257061 + 12477932;9847074 79315 ABBA01075546;AC007040;AMYH01010425;BC014374;BC030991;CH471053;NR_002185 EAW99781;EAW99782 Hs.327033 APPROVED pseudo ENSG00000205847 14747 PROVISIONAL 1350337 OR8B12 olfactory receptor, family 8, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121572800 121573732 - 123917828 123918760 - 124412618 124413550 - 1580863 14983052;12213199;12477932 219858 Q8NGG6 AB065834;ABBA01031256;AF399511;AMYH01004103;AP000916;BC136863;BC136864;BK004494;CH471065;CS248182;NM_001005195 AAI36864;AAI36865;AAK94996;BAC06053;CAJ56618;DAA04892;EAW67585;NP_001005195;Q8NGG6 Hs.553634 2219398 OR8B12__5765 OR11-317 OTTHUMP00000231520;olfactory receptor 8B12;olfactory receptor OR11-317 APPROVED protein-coding ENSG00000170953 15307 17785 PROVISIONAL 1345538 OR8F1P olfactory receptor, family 8, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121237047 121238009 + 123583000 123584162 + 124077891 124078853 + 390269 ABBA01031262;AMYH01004102;AP000818;NG_004340 APPROVED pseudo 14691 INFERRED 1342821 OR8B4 olfactory receptor, family 8, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121453838 121454767 - 123799048 123799977 - 124293838 124294767 - 1580863 14983052;12213199;12477932 283162 Q96RC9 AB065831;ABBA01031258;AC002556;AF399509;AMYH01004103;AP000916;AP001804;BC136865;BC136866;BK004205;CH471065;CS248238;NM_001005196 AAI36866;AAI36867;AAK94994;BAC06050;CAJ56644;DAA04603;EAW67582;NP_001005196;Q96RC9 Hs.553671 OR11-315;OR8B4P OTTHUMP00000231518;olfactory receptor 8B4;olfactory receptor OR11-315;olfactory receptor, family 8, subfamily B, member 4 pseudogene APPROVED protein-coding ENSG00000198657 8473 17786 PROVISIONAL 1346948 OR8G1 olfactory receptor, family 8, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121279538 121280473 + 123625633 123640973 + 124120423 124121287 + 633349;6480464 9119360 14983052;12213199;18674749 26494 Q15617 AB065946;ABBA01031262;AF399507;AMYH01004102;AP002965;BK004423;CH471065;NM_001002905;NR_045681;X89672;XM_003960504 AAI40353;AAI46495;AAK94992;BAC06159;CAA61819;DAA04821;EAW67576;NP_001002905;Q15617;XP_003960553 Hs.448172 2110627 OR8G5__7032 HSTPCR25;OR8G1P;TPCR25 olfactory receptor 8G1;olfactory receptor OR11-281;olfactory receptor TPCR25;olfactory receptor, family 8, subfamily G, member 1 pseudogene APPROVED protein-coding ENSG00000197849 8484 15082 VALIDATED 1342721 OR8G3P olfactory receptor, family 8, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121245089 121245653 + 123591137 123591701 + 124085927 124086491 + 387815 ABBA01031262;AMYH01004102;AP002965;NG_004312 APPROVED pseudo 14698 INFERRED 1349349 OR8A1 olfactory receptor, family 8, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121600142 121601122 + 123945175 123946155 + 124439965 124440945 + 6480464 14983052;12213199;12477932 390275 Q8NGG7 AB065833;ABBA01031256;AF399512;AMYH01004103;AP000916;AY726592;BC137194;BC137197;BK004495;CH471065;NM_001005194 AAI37195;AAI37198;AAK94997;BAC06052;DAA04893;EAW67586;EAW67587;NP_001005194;Q8NGG7 Hs.632104 2219396 OR8A1__5764 OR11-318;OST025 OTTHUMP00000231521;olfactory receptor 8A1;olfactory receptor OR11-318 APPROVED protein-coding ENSG00000196119 8469 15077 PROVISIONAL 1350153 OR8D1 olfactory receptor, family 8, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121339734 121340660 - 123684946 123685872 - 124179736 124180662 - 1580863;6480464 14983052;11705801;12477932 283159 Q8WZ84 AB065828;ABBA01031260;AC002556;AF238489;AMYH01004102;AP001804;BC136950;BC136954;BK004501;CH471065;CS248232;NM_001002917 AAI36951;AAI36955;AAL32998;BAC06047;CAJ56641;DAA04899;EAW67578;NP_001002917;Q8WZ84 Hs.504211 JCG9;OR8D3;OST004;PDJ9J14 OTTHUMP00000231627;olfactory receptor 8D1;olfactory receptor 8D3;olfactory receptor OR11-301;olfactory receptor, family 8, subfamily D, member 3;olfactory receptor-like protein JCG9;olfactory-like receptor JCG9 APPROVED protein-coding ENSG00000196341 8481 17787 PROVISIONAL 1347370 OR8B8 olfactory receptor, family 8, subfamily B, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121470034 121470969 - 123815256 123816191 - 124310046 124310981 - 633349;1580863;6480464 9119360 14983052;12213199;11705801;12477932 26493 Q15620;Q6IEW6 AB065832;ABBA01031258;AF238488;AF399510;AMYH01004103;AP000916;BC130393;BC130419;BK004496;CH471065;NM_012378;X89675 AAI30394;AAI30420;AAK94995;AAL32997;ADR82899;BAC06051;CAA61822;DAA04894;EAW67583;NP_036510;Q15620 Hs.351822 2219400;5493041;5493727 OR8B8__5767;UniSTS:483956;UniSTS:494434 TPCR85 OTTHUMP00000231519;olfactory receptor 8B8;olfactory receptor OR11-316;olfactory receptor TPCR85;olfactory-like receptor JCG8 APPROVED protein-coding ENSG00000197125 8477 PROVISIONAL 1346035 OR8H2 olfactory receptor, family 8, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53212689 53213627 + 55629095 55630033 + 55872519 55873457 + 1580863;6480464 14983052 390151 Q8N162 AB065657;AB065845;ABBA01021461;AC068339;AMYH01003646;BK004341;CH471076;CS248362;NM_001005200 BAC05883;BAC06063;CAJ56701;DAA04739;EAW73698;NP_001005200;Q8N162 Hs.553744 2219402 OR8H2__5773 OR11-171 OTTHUMP00000234215;olfactory receptor 8H2;olfactory receptor OR11-171 APPROVED protein-coding ENSG00000181767 15308 15083 PROVISIONAL 1348145 OR8H3 olfactory receptor, family 8, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53230004 53230942 + 55646425 55647363 + 55889849 55890787 + 1580863;6480464 14983052 390152 Q8N146 AB065658;AB065840;ABBA01021461;AC068339;AMYH01003646;BK004345;CH471076;CS248364;NM_001005201 BAC05884;BAC06059;CAJ56702;DAA04743;EAW73699;NP_001005201;Q8N146 Hs.553745 OR11-172 OTTHUMP00000234216;olfactory receptor 8H3;olfactory receptor OR11-172 APPROVED protein-coding ENSG00000181761 15309 17792 PROVISIONAL 1345447 OR8G7P olfactory receptor, family 8, subfamily G, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 q24.2 123614232 123615628 + 124109123 124110319 + 282786 ABBA01031262;AMYH01004102;AP002965;NG_004628 APPROVED pseudo ENSG00000254845 19625 INFERRED 1350267 OR8I1P olfactory receptor, family 8, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53404099 53405029 - 55820492 55821622 - 56064016 56064946 - 79498 ABBA01021463;AC022882;AMYH01003648;NG_004147 APPROVED pseudo 14828 INFERRED 1353612 OR8I4P olfactory receptor, family 8, subfamily I, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53204889 53205029 - 55621196 55621536 - 55864719 55864859 - 403303 ABBA01021461;AC068339;AMYH01003646;NG_004635 APPROVED pseudo 31316 INFERRED 1354280 OR8D2 olfactory receptor, family 8, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121349159 121350094 - 123694368 123695303 - 124189158 124190093 - 1580863;6480464 14983052;11705801;12477932 283160 Q9GZM6 ABBA01031259;AC002556;AF162668;AF162669;AMYH01004103;AP001804;BC137043;BC137045;BK004202;CH471065;NM_001002918 AAG43386;AAG43387;AAI37044;AAI37046;DAA04600;EAW67579;NP_001002918;Q9GZM6 Hs.504212 JCG2 OTTHUMP00000231628;olfactory receptor 8D2;olfactory receptor OR11-303;olfactory receptor-like protein JCG2 APPROVED protein-coding ENSG00000197263 8482 15081 PROVISIONAL 1346057 OR8J2 olfactory receptor, family 8, subfamily J, member 2 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53318463 53319427 - 55734808 55735972 - 55978333 55979297 - 16554811;12730696;18989455 81169 Q8NGG1 ABBA01021463;AC022882;AMYH01003648;NG_004185 Q8NGG1 OR8J2P APPROVED pseudo 15311 INFERRED 1342544 OR8J3 olfactory receptor, family 8, subfamily J, member 3 11 11 11 q12.1 53244400 53245347 - 55660823 55661770 - 55904247 55905194 - 1580863;6480464 14983052;12213199 81168 Q8NGG0 AB065841;ABBA01021461;AF399516;AMYH01003646;AP003034;BK004346;CH471076;NM_001004064 AAK95001;BAC06060;DAA04744;EAW73701;NP_001004064;Q8NGG0 Hs.554523 2219404 OR8J3__5776 OR11-173 OTTHUMP00000234217;olfactory receptor 8J3;olfactory receptor OR11-173 protein-coding ENSG00000167822 15312 15085 PROVISIONAL 1319573 OR8D4 olfactory receptor, family 8, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 120936319 120937263 + 123282349 123283293 + 123777139 123778083 + 1580863;6480464 14983052;12477932 338662 Q8NGM9 AB065761;ABBA01031265;AC019108;AMYH01004102;AP002407;BC137180;BC137206;BK004313;CH471065;CS248090;NM_001005197 AAI37181;AAI37207;BAC05981;CAJ56572;DAA04711;EAW67560;NP_001005197;Q8NGM9 Hs.449688 2110625 OR8D4__5769 OR11-275 OTTHUMP00000231613;olfactory receptor 8D4;olfactory receptor OR11-275 APPROVED protein-coding ENSG00000181518 14840 17788 PROVISIONAL 1346153 OR8K2P olfactory receptor, family 8, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53442695 53443621 + 55859094 55860220 + 56102619 56103545 + 79494 ABBA01021463;AC022882;AMYH01003648;NG_004146 APPROVED pseudo 14832 INFERRED 1342730 OR8K3 olfactory receptor, family 8, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53425861 53426799 + 55842359 55843297 + 56085783 56086721 + 1580863;6480464 14983052 219473 Q8NH51 AB065541;ABBA01021463;AC022882;AMYH01003648;BK004338;CH471076;CS248132;NM_001005202 BAC05786;CAJ56593;DAA04736;EAW73708;NP_001005202;Q8NH51 Hs.553629 OR11-181 OTTHUMP00000234246;olfactory receptor 8K3;olfactory receptor OR11-181 APPROVED protein-coding ENSG00000181689 15313 17794 PROVISIONAL 1342981 OR8K4P olfactory receptor, family 8, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53250144 53251015 - 55666467 55667538 - 55909991 55910862 - 81166 ABBA01021461;AMYH01003646;AP003034;NG_004184 APPROVED pseudo 15314 INFERRED 1351237 OR8K5 olfactory receptor, family 8, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53267023 53267946 - 55683446 55684369 - 55926870 55927793 - 1580863;6480464 14983052 219453 Q8NH50 AB065542;ABBA01021462;AMYH01003647;AP003034;BK004347;CH471076;CS248366;CS248600;NM_001004058 BAC05787;CAJ56703;CAJ56816;DAA04745;EAW73702;NP_001004058;Q8NH50 Hs.553626 OR11-174 OTTHUMP00000234218;olfactory receptor 8K5;olfactory receptor OR11-174 APPROVED protein-coding ENSG00000181752 15315 17795 VALIDATED 1348371 OR8L1P olfactory receptor, family 8, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53496795 53497749 + 55905587 55906741 + 56149112 56150066 + 14983052 81164 ABBA01021463;AC208786;AMYH01003648;AP002512;BK004720;NG_004183 OR11-115 APPROVED pseudo 15316 INFERRED 1343193 OR8Q1P olfactory receptor, family 8, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121631673 121632329 + 123976608 123977464 + 124471499 124472155 + 81163 ABBA01031255;AMYH01004103;AP000916;NG_004182 APPROVED pseudo 15317 INFERRED 1605614 OR8R1P olfactory receptor, family 8, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 70264960 70265513 + 72637908 72638661 + 72960361 72960914 + 81162 ABBA01017524;AMYH01003799;AP002761;NG_004181 APPROVED pseudo 15318 INFERRED 1351418 OR8S1 olfactory receptor, family 8, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47715420 47717885 + 47205682 47208153 + 48919415 48921886 + 1580863;6480464 20677014;18029348 341568 Q8NH09 AB065604;ABBA01031482;AC089987;AMYH01004433;NM_001005203 BAC05832;NP_001005203;Q8NH09 Hs.524373 OTTHUMP00000242627;olfactory receptor 8S1 APPROVED protein-coding ENSG00000197376 19628 15087 VALIDATED 1349416 OR8S21P olfactory receptor, family 8, subfamily S, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.11 47606923 47607110 - 47097101 47097488 - 48810933 48811120 - 22219177 403304 ABBA01031481;AC090115;AMYH01004432;NG_005823 APPROVED pseudo 31317 INFERRED 1352267 OR8T1P olfactory receptor, family 8, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 47631807 47632721 - 47121983 47123097 - 48835815 48836729 - 282791 ABBA01031481;AC090115;AMYH01004432;NG_004301 APPROVED pseudo 19630 INFERRED 1353375 OR8U1 olfactory receptor, family 8, subfamily U, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 q12.1 55899676 55900635 + 56143100 56144029 + 1580863;6480464 17803354 219417 Q8NH10 AB065603;AMYH01003648;AP002512;NM_001005204 BAC05831;NP_001005204;Q8NH10 Hs.553618 OTTHUMP00000234249;olfactory receptor 8U1 APPROVED protein-coding ENSG00000172199 19611 17796 PROVISIONAL 1601900 OR8U8 olfactory receptor, family 8, subfamily U, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 q11 53483178 53484137 + 55899676 55900635 + 504189 P0C7N1 AADD01115766;ABBA01021463;AC208786;AC213240;CH471076;NM_001013356 AAI48575;AAI53151;EAW73711;NP_001013374;P0C7N1 olfactory receptor 8U8 APPROVED protein-coding 27538 18488 VALIDATED 1601899 OR8U9 olfactory receptor, family 8, subfamily U, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 q1 53490783 53491712 + 21328370;17803354 504190 P0C7N5 AADD01115766;ABBA01021463;AC208786;AC213240;CH471076;GD263286;NM_001013357 EAW73712;NP_001013375;P0C7N5 Hs.553618 olfactory receptor 8U9 APPROVED protein-coding 29166 18489 PROVISIONAL 1344141 OR8V1P olfactory receptor, family 8, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q 53295936 53296856 - 55712283 55713403 - 55955807 55956727 - 282776 ABBA01021462;AC022882;AMYH01003648;AP003034;NG_004299 OR11-267 APPROVED pseudo 19613 INFERRED 1352593 OR8G5 olfactory receptor, family 8, subfamily G, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121294726 121295766 + 123639933 123640973 + 124134723 124135763 + 1580863;6480464 14983052;12477932 219865 B2RND3;Q8NG78 AB065958;ABBA01031262;AMYH01004102;AP002965;BC136820;BC136822;BK004516;CH471065;NM_001005198 AAI36821;AAI36823;BAC06171;DAA04914;EAW67577;NP_001005198;Q8NG78 Hs.722725 2110627 OR8G5__7032 OR11-298;OR8G5P;OR8G6 olfactory receptor 8G5;olfactory receptor 8G6;olfactory receptor OR11-298;olfactory receptor, family 8, subfamily G, member 5 pseudogene;olfactory receptor, family 8, subfamily G, member 6 APPROVED protein-coding ENSG00000255298 19622 17790 PROVISIONAL 1343242 OR8X1P olfactory receptor, family 8, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121434143 121435011 - 123779239 123780307 - 124274129 124274997 - 403305 ABBA01031258;AMYH01004103;AP001804;NG_004440 APPROVED pseudo 31318 INFERRED 1353161 OR8G2 olfactory receptor, family 8, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121254560 121255474 + 123600608 123601522 + 124095398 124096312 + 633349;6480464 9119360 14983052;12477932 26492 Q15614;Q8N0Y1 AB065943;AB065947;AB065948;ABBA01031262;AMYH01004102;AP002965;BC136638;BC136639;BK004424;BK004426;CH471065;NM_001007249;X89669 AAI36639;AAI36640;BAC06157;BAC06160;BAC06161;CAA61816;DAA04822;DAA04824;EAW67575;NP_001007250;Q15614 Hs.381319 5493533 UniSTS:487064 HSTPCR120;OR8G2P;OR8G4;ORL206;ORL486;TPCR120 olfactory receptor 8G2;olfactory receptor 8G4;olfactory receptor OR11-292;olfactory receptor OR11-297;olfactory receptor TPCR120;olfactory receptor, family 8, subfamily G, member 2 pseudogene;olfactory receptor, family 8, subfamily G, member 4;seven transmembrane helix receptor APPROVED protein-coding 8485 17789 PROVISIONAL 1348783 OR9A1P olfactory receptor, family 9, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136308388 136309176 + 141233317 141234305 + 141586948 141587736 + 1370859 26495 Q8NGU1 AACC02000019;AB065690;ABBA01034112;AC011654;AC073647;AMYH01017998;CH236950;NG_002195;X64982 Q8NGU1 Hs.544835 HSHTPCRX06;HTPCRX06;OR9A1;OR9A5P olfactory receptor, family 9, subfamily a, member 1, pseudogene APPROVED pseudo 8486 INFERRED 1343778 OR9A3P olfactory receptor, family 9, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136284108 136285067 + 141209029 141210188 + 141562659 141563618 + 12853948;12213199 392106 AACC02000019;ABBA01034112;AC073647;AF399476;AMYH01017998;CH236950;NG_004372 OR9A6P APPROVED pseudo 15094 INFERRED 1348854 OR8H1 olfactory receptor, family 8, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53397687 53398622 - 55814179 55815114 - 56057603 56058538 - 1580863;6480464 14983052;12477932 219469 Q8NGG4 AB065836;ABBA01021463;AC022882;AMYH01003648;BC136909;BC136910;BK004337;CH471076;CS248134;NM_001005199 AAI36910;AAI36911;BAC06055;CAJ56594;DAA04735;EAW73707;NP_001005199;Q8NGG4 Hs.553628 2107473 OR8H1__7033 OR11-180 OTTHUMP00000222497;olfactory receptor 8H1;olfactory receptor OR11-180 APPROVED protein-coding ENSG00000181693 14824 17791 PROVISIONAL 1346262 OR9G2P olfactory receptor, family 9, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53877232 53878219 - 56274949 56276136 - 56518473 56519460 - 81160 ABBA01021463;AMYH01003650;AP001803;NG_004180 OR9G6 APPROVED pseudo 15320 INFERRED 1342549 OR9G1 olfactory receptor, family 9, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53815546 53816463 + 56224440 56225357 + 56467864 56468781 + 1580863;6480464 17903294;14983052 390174 Q6IEV1;Q8NH87 AB065500;ABBA01021463;AC213223;AMYH01003650;AP004245;BK004511;CH471076;NM_001005213;XM_003846477 AAI46362;BAC05750;DAA04909;EAW73722;NP_001005213;Q8NH87;XP_003846525 Hs.553752 2219408 OR9G1__5782 OR9G5 OTTHUMP00000235230;olfactory receptor 9G1;olfactory receptor 9G5;olfactory receptor OR11-114;olfactory receptor OR11-210;olfactory receptor, family 9, subfamily G, member 5 APPROVED protein-coding ENSG00000174914 15319 15089 PROVISIONAL 1344100 OR9G3P olfactory receptor, family 9, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53866410 53867327 + 56264131 56265244 + 56507656 56508569 + 81159 ABBA01021463;AMYH01003650;AP001803;NG_004179 APPROVED pseudo 15321 INFERRED 1601898 OR9G9 olfactory receptor, family 9, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 q11 53826626 53827543 + 56467864 56468781 + 6480464 504191 P0C7N8 AADD01115779;ABBA01021463;AC213223;CH471076;NM_001013358;XM_003960866 EAW73723;NP_001013376;P0C7N8;XP_003960915 2219408 OR9G1__5782 olfactory receptor 9G9 APPROVED protein-coding 31940 18490 VALIDATED 1349445 OR9G4 olfactory receptor, family 9, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53869062 53870045 - 56266880 56267863 - 56510304 56511287 - 6480464 17903294;14983052;12213199 283189 Q8NGQ1 AB065738;ABBA01021463;AF399530;AMYH01003650;AP001803;BK004400;CH471076;NM_001005284 AAK95015;BAC05959;DAA04798;EAW73725;NP_001005284;Q8NGQ1 Hs.554521 2219410 OR9G4__5783 OR11-216 OTTHUMP00000234455;olfactory receptor 9G4;olfactory receptor OR11-216 APPROVED protein-coding ENSG00000172457 15322 17798 PROVISIONAL 1350629 OR9H1P olfactory receptor, family 9, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 1 1 1 q44 221230743 221231666 + 246004735 246005858 + 247938213 247939136 + 12975309 81439 ABBA01031791;AL450999;AMYH01001917;AY358215;NG_004269 Hs.446996 UNQ9373 APPROVED pseudo 15038 INFERRED 1348514 OR8J1 olfactory receptor, family 8, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53467801 53468751 + 55884299 55885249 + 56127691 56128764 + 1580863;6480464 14983052;12213199;12477932 219477 Q8NGP2 AB065748;ABBA01021463;AC208786;AF399515;AMYH01003648;AP002512;BC137066;BC137067;BK004340;CH471076;CS248136;NM_001005205 AAI37067;AAI37068;AAK95000;BAC05968;CAJ56595;DAA04738;EAW73710;NP_001005205;Q8NGP2 Hs.626841 OR11-183 OTTHUMP00000234248;olfactory receptor 8J1;olfactory receptor OR11-183 APPROVED protein-coding ENSG00000172487 14855 17793 VALIDATED 1347420 OR9I2P olfactory receptor, family 9, subfamily I, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55269295 55269780 + 57668897 57669382 + 57912321 57912806 + 10706615 81156 ABBA01021486;AF179762;AMYH01003658;AP004247;NG_002279 APPROVED pseudo 15324 INFERRED 1345505 OR9I1 olfactory receptor, family 9, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55242948 55243892 - 57642548 57643492 - 57885972 57886916 - 1580863;6480464 14983052;12213199 219954 Q8NGQ6 AB065733;ABBA01021486;AF399531;AMYH01003658;AP004247;BK004292;CH471076;CS248104;NM_001005211 AAK95016;BAC05954;CAJ56579;DAA04690;EAW73796;NP_001005211;Q8NGQ6 Hs.632122 OR11-228 OTTHUMP00000235900;olfactory receptor 9I1;olfactory receptor OR11-228 APPROVED protein-coding ENSG00000172377 14718 17799 VALIDATED 1348710 OR9I3P olfactory receptor, family 9, subfamily I, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55233168 55234109 - 57632668 57633809 - 57876192 57877133 - 81155 ABBA01021486;AMYH01003658;AP004247;NG_004178 OST714 APPROVED pseudo 15325 INFERRED 1353472 OR9K1P olfactory receptor, family 9, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55161171 55162109 + 53795484 53796622 + 55509318 55510256 + 6480464 14983052 121360 AB065863;ABBA01008380;AC027287;AMYH01004492;BK004576;NG_004285 OR12-4 APPROVED pseudo 15338 INFERRED 1607004 OR9L1P olfactory receptor, family 9, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55201801 55203057 - 57601297 57602753 - 57844822 57846078 - 79301 ABBA01021485;AMYH01003658;AP004247;NG_002233 1751477 SHGC-105312 OR9L2P APPROVED pseudo 14761 INFERRED 1353131 OR9M1P olfactory receptor, family 9, subfamily M, member 1, pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q11 52963213 52964142 + 55379544 55380673 + 55623068 55623997 + 6480464 81153 AB065784;ABBA01021460;AC036111;AMYH01003643;NG_004177 OR5BG1P APPROVED pseudo 15327 INFERRED 1352416 OR8I2 olfactory receptor, family 8, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53200954 53201886 + 55617360 55618292 + 55860784 55861716 + 1580863 14983052;12213199;12477932;20379614;22359512 120586 H0YLY8;Q8N0Y5 AB065656;AB065844;ABBA01021461;AC068339;AF399513;AMYH01003646;BC137007;BC137008;BK004342;CH471076;CS248360;NM_001003750 AAI37008;AAI37009;AAK94998;BAC05882;BAC06062;CAJ56700;DAA04740;EAW73697;NP_001003750;Q8N0Y5 Hs.554524 OR11-170 OTTHUMP00000234214;olfactory receptor 8I2;olfactory receptor OR11-170 APPROVED protein-coding ENSG00000172154 15310 15084 PROVISIONAL 1352278 OR9N1P olfactory receptor, family 9, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136332674 136333294 + 141257573 141258393 + 141611202 141611822 + 12853948 81383 AACC02000019;ABBA01034112;AC073647;AMYH01017998;CH236950;NG_004258 APPROVED pseudo 15096 INFERRED 1348578 OR9P1P olfactory receptor, family 9, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q35 137581030 137581735 - 142454189 142455094 - 142744168 142744873 - 9847074 81382 AACC02000106;ABBA01034132;AC099652;AMYH01018007;CH236959;NG_004257 OR9P2P APPROVED pseudo 15097 INFERRED 1344431 OR9R1P olfactory receptor, family 9, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55204485 55205438 + 53838798 53839951 + 55552632 55553585 + 81140 ABBA01008382;AC027287;AMYH01004492;NG_004176 1648372 D12S1410 APPROVED pseudo 15340 INFERRED 1347898 OR9S24P olfactory receptor, family 9, subfamily S, member 24 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 2 2 2 q37.3 234691885 234692812 + 240667423 240668550 + 241018850 241019777 + 403275 ABBA01048858;AC013469;AMYH01011617;NG_005821 OR5J6P APPROVED pseudo 31288 INFERRED 1347124 OR8K1 olfactory receptor, family 8, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 53453593 53454552 + 55870091 55871050 + 56113515 56114474 + 1580863 14983052;12213199;12477932 390157 Q8NGG5 AB065835;ABBA01021463;AC022882;AF399517;AMYH01003648;BC146844;BK004339;CH471076;CS248130;NM_001002907 AAI46845;AAK95002;BAC06054;CAJ56592;DAA04737;EAW73709;NP_001002907;Q8NGG5 Hs.553748 2107475 OR8K1__7035 OR11-182;OR8N1P OTTHUMP00000234247;olfactory receptor 8K1;olfactory receptor OR11-182;olfactory receptor, family 8, subfamily N, member 1 pseudogene APPROVED protein-coding ENSG00000150261 14831 15086 PROVISIONAL 1352661 OR9A4 olfactory receptor, family 9, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 136340164 136341108 + 141265145 141266089 + 141618676 141619620 + 1580863;6480464 14983052;12690205;12477932;23568457 130075 Q8NGU2 AACC02000019;AB065689;ABBA01034113;AC073647;AMYH01017998;BC136819;BC136821;BK004278;CH236950;CH471070;CS248584;NM_001001656 AAI36820;AAI36822;BAC05912;CAJ56808;DAA04676;EAL24013;EAW83990;NP_001001656;Q8NGU2 Hs.690171 OTTHUMP00000212994;olfactory receptor 9A4;olfactory receptor OR7-1 APPROVED protein-coding ENSG00000258083 15095 17797 PROVISIONAL 1348029 OR9A2 olfactory receptor, family 9, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 7 7 7 q34 137560149 137561081 - 142433409 142434341 - 142723287 142724219 - 1580863;6480464 14983052;12908129;12732197;12477932 135924 A4D2H9;Q8NGT5 AACC02000106;AB065696;AB065874;ABBA01034132;AC099652;AMYH01018007;AY284261;BC137048;BC137049;BK004391;CH236959;CH471198;NM_001001658 AAI37049;AAI37050;BAC05919;BAC06092;DAA04789;EAL23779;EAW51890;NP_001001658;Q8NGT5 Hs.553594 2219406 OR9A2__5780 OTTHUMP00000212867;olfactory receptor 9A2;olfactory receptor OR7-2 APPROVED protein-coding ENSG00000179468 15093 15088 PROVISIONAL 6481455 ORAOV1P1 oral cancer overexpressed 1 pseudogene 1 4 187092017 187092411 - 100873907 ABBA01070550;AC110771;AMYH01014781;NG_032235 pseudo 39203 INFERRED 1351092 OR9Q2 olfactory receptor, family 9, subfamily Q, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55314874 55315958 + 57714539 57715483 + 57957906 57958990 + 6480464 12477932 219957 Q8NGE9 AB065859;ABBA01021486;AMYH01003658;AP004247;AX646375;BC140718;CH471076;NM_001005283 AAI40719;BAC06077;CAD69316;EAW73798;NP_001005283;Q8NGE9 Hs.553643 OR9Q2P OTTHUMP00000235901;olfactory receptor 9Q2;olfactory receptor, family 9, subfamily Q, member 2 pseudogene APPROVED protein-coding ENSG00000186513 15328 17801 VALIDATED 1345121 OR9K2 olfactory receptor, family 9, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 12 12 12 q13.2 55175406 55176413 + 53809820 53810827 + 55523553 55524560 + 6480464 14983052;12477932 441639 Q8NGE7 AB065862;ABBA01008380;AC027287;AMYH01004492;BC136988;BK004326;NM_001005243 AAI36989;BAC06080;DAA04724;NP_001005243;Q8NGE7 Hs.553827 OR12-2 OTTHUMP00000242229;olfactory receptor 9K2;olfactory receptor OR12-2 APPROVED protein-coding ENSG00000170605 15339 15090 PROVISIONAL 1349735 OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] 11 11 11 q12.1 55303873 55306029 + 57547929 57705635 + 57791353 57949059 + 1580863 15489334;12477932;12213199 219956 Q8NGQ5 AB065734;ABBA01021483;ABBA01021484;ABBA01021485;ABBA01021486;AF399532;AMYH01003655;AMYH01003656;AMYH01003657;AMYH01003658;AP003401;AP003484;AP004247;BC110819;CH471076;NM_001005212 AAI10820;AAK95017;BAC05955;EAW73797;NP_001005212;Q8NGQ5 Hs.689841 1737043;1751477;1754829;1782234 D11S2790;SHGC-101389;SHGC-105312;SHGC-141751 MGC131737 olfactory receptor 9Q1 APPROVED protein-coding ENSG00000186509 14724 17800 VALIDATED 1606201 ORAI1 ORAI calcium release-activated calcium modulator 1 The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011] 12 12 q24.31 120548858 120564322 + 122064455 122079946 + 6480464;7240710;7204692 22914293 16645049;16733527;16766533;16807233;19433061;19366689;19289460;19260825;19249086;19228695;19189966;19185847;19182790;19171672;19088073;19075015;18995841;18845811;18843204;18832420;18768920;18644792;18569867;18542992;18506892;18448669;18436303;18420579;18403424;18400989;18326500;18250319;18239188;18190941;18187424;18096706;18006576;17991693;17968026;17702753;17684017;17452328;22389502;17442569;17400243;17360584;17224452;17218358;17045966;16978865;16921383;16582901;16147976;15489334;14702039;12477932;22778704;23212906;21383014;21408196;21420116;21321120;21441136;17905723;19403622;19429662;19447651;19487696;19506081;19622747;19675303;19706554;19754898;19843011;19887627;19965684;20004786;20007711;20018736;20037597;20073506;20194792;20354224;20194530;21300876;20961852;20587595;20395295;20887894;16341674;22494970;20534587;20607548;21239714;21266088;21364678;21670147;23043102;23184982;23307288;21640715;21224390;21674042;21865174;21782006;21945734;21847095;21987804;22110130;22144678;22278058;22387225;21873556;21487896;22031597;23455504;21790973;22298778;22253717;22384096;22546867;22549787;22556336;22586105;23049826;22641696;23115638;23447534;21956116;22640869;22495877 84876 F5GWZ3;Q96D31 ABBA01020177;ABBA01020178;ABBA01020179;AC140062;AK027372;AMYH01004815;BC013386;BC015369;BC075831;BC104633;BG574128;BG775018;BM762473;BM847154;CH471054;NG_007500;NM_032790 AAH13386;AAH15369;AAH75831;AAI04634;BAB55068;EAW98269;EAW98270;NP_116179;Q96D31 Hs.55148 5015961;5022322;5022578 D11S2560;D15S1477;D1S1423 CRACM1;FLJ14466;ORAT1;TMEM142A OTTHUMP00000240038;calcium release-activated calcium channel protein 1;calcium release-activated calcium modulator 1;protein orai-1;transmembrane protein 142A APPROVED protein-coding 25896 08599 610277;612782 REVIEWED 1320982 ORAI2 ORAI calcium release-activated calcium modulator 2 7 7 7 q22.1 97086298 97109572 + 101861028 101876168 + 102073996 102097268 + 6480464;7204692 22914293 18403424;17452328;16807233;16582901;16344560;15498874;15489334;14702039;12853948;12477932;9847074;16169070;19506081;19706554;20607548;15146197;22640869 80228 B4DUB4;C9J2H9;C9J5L2;C9JQR7;C9JUY6;Q96SN7 ABBA01011282;ABBA01011283;ABBA01011284;ABBA01011285;AC093668;AF258552;AK022536;AK027639;AK056497;AK128753;AK300574;AMYH01017770;BC009183;BC016797;BC069270;CH471197;CN366874;CR457287;DA770788;DC384892;HY064081;NM_001126340;NM_001271818;NM_001271819;NM_032831;Y10777 AAG23755;AAH69270;AAP22351;AAP22352;BAB55256;BAG62276;CAG33568;EAW50244;EAW50245;EAW50246;EAW50247;EAW50248;NP_001119812;NP_001258747;NP_001258748;NP_116220;Q96SN7 Hs.363308;Hs.736659 1339702;1699418;2125069;2136972;2219568;5014039;5014051;5014740;5015404;5015619;5015861;5015961;5016478;5016596;5017227;5017433;5020274;5020414;5020946;5020948;5021228;5021431;5022450;5022463;5022578;5022651;5024039;5024756;5037552;5109281;5117897;7185938 D10S16;D10S275;D11S2921;D11S3114;D15S1477;D16S325;D17S610;D1S1423;D1S1425;D22S1584;D3S1673;D8S2278;D8S2279;D9S757;G35510;G38154;GDB:312794;GDB:434012;GDB:631802;GDB:631813;L17688;L17702;L17705;L17971;L18441;PRKRIP1__5584;RH103300;RH80030;SHGC-57563;STS-T76997;WI-15098 C7orf19;CBCIP2;FLJ12474;FLJ14733;FLJ44818;MEM142B;TMEM142B CAP-binding protein complex interacting protein 2;CAP-binding protein complex-interacting protein 2;H_NH0514P08.8;OTTHUMP00000212415;OTTHUMP00000212416;OTTHUMP00000212417;OTTHUMP00000212418;OTTHUMP00000212419;OTTHUMP00000212421;chromosome 7 open reading frame 19;protein orai-2;putative protein ORAI2-2;transmembrane protein 142B protein-coding ENSG00000160991 21667 09860 610929 VALIDATED 1602192 ORAI3 ORAI calcium release-activated calcium modulator 3 16 16 p11.2 30867916 30873760 + 30960405 30966259 + 6480464;7204692 22914293 12477932;18499656;18420579;18403424;17991693;17452328;16582901;15489334;20395295;19506081;19706554;19887627;20354224;20607548;20683915;21724845;21906983;22993197;23266555 93129 H3BT51;H3BTK7;H3BTY7;Q9BRQ5 ABBA01042071;ABBA01042072;AC135048;AK298276;AMYH01007501;BC006126;BC015555;BC016150;BC022786;BI561433;CH471192;NM_152288 AAH06126;AAH15555;AAH22786;BAG60537;EAW52185;EAW52186;NP_689501;Q9BRQ5 Hs.460617 1697184 RH102081 MGC13024;TMEM142C OTTHUMP00000163245;protein orai-3;transmembrane protein 142C protein-coding ENSG00000175938 28185 14431 610930 VALIDATED 1350406 ORC1 origin recognition complex, subunit 1 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 p32 52611089 52642719 - 52838501 52870143 - 1580863;6480464;6907045;7240710 22855792;22333897;7502077;11931757;15232106;17474147;12791985;10436018;11095689;11125146;12045100;15226314;15684404;15707391;19197067;18761675;17081983;17066079;16710414;15454574;12912926;12909627;12909626;12614612;12477932;11809796;11779870;11716535;11323433;10954718;10681582;10523313;10438470;9566895;8943353;8884289;12393188;11739726;18029348;20800603;17716973;22045277;15342556;16344560;16226712;21358631;21358632;21358633;21085491;21115485;20360068;21906983;21963094;22398447;22589552;23187890 4998 B7Z8H0;Q13415;Q96F82 ABBA01074774;ABBA01074775;AK291909;AK303420;AL513218;AMYH01000619;BC011539;BP280383;CH471059;DB156841;NG_028251;NM_001190818;NM_001190819;NM_004153;U40152;U43416 AAA86260;AAC50325;AAH11539;BAF84598;BAH13956;EAX06783;EAX06784;NP_001177747;NP_001177748;NP_004144;Q13415 Hs.17908 1652811;1675587;1684932;1712865;1789883;1789885;1789887;1789889;1789891;1789893;1789895;1789897;1789899;1789901;1789903;1793884;2108331;2123149;5093638 A009U12;G32836;ORC1L_7845;PMC303366P7;RH120149;RH70495;RH79919;RH80351;csnporc1l-pcr10-1;csnporc1l-pcr11-1;csnporc1l-pcr14-1;csnporc1l-pcr16-1;csnporc1l-pcr17-1;csnporc1l-pcr2-1;csnporc1l-pcr5-1;csnporc1l-pcr6-1;csnporc1l-pcr7-1;csnporc1l-pcr8-1;csnporc1l-pcr9-1 HSORC1;ORC1L;PARC1 OTTHUMP00000009797;OTTHUMP00000009798;origin recognition complex 1;origin recognition complex subunit 1;origin recognition complex, subunit 1 homolog;origin recognition complex, subunit 1, S. cerevisiae, homolog-like;origin recognition complex, subunit 1-like;replication control protein 1 APPROVED protein-coding ENSG00000085840 8487 03544 224690;601902 REVIEWED 1312190 ORAOV1 oral cancer overexpressed 1 11 11 11 q13.3 66777361 66787192 - 69189512 69199346 - 69480331 69490165 - 6480464 19493886;18688849;17005439;15489334;12477932;12172009;21145461;20105337;20453838;22939629;19322201;21623924;21993861 220064 A6YPU5;F5GWS9;F5GXG7;F5GZY6;F5H179;F5H6T8;F5H8D9;H3BPK6;Q8WV07 ABBA01010292;AF503940;AK026600;AK125280;AK126490;AK294004;AK311918;AMYH01003772;AP001888;BC006448;BC019024;BC065542;CH471076;EF639695;JX460858;NM_153451 AAH19024;AAH65542;AAM97902;ABR37294;AFR45922;BAG34859;BAG57366;EAW74749;EAW74750;NP_703152;Q8WV07 Hs.667996 5037552 D8S2279 TAOS1 OTTHUMP00000237172;OTTHUMP00000237174;OTTHUMP00000237177;oral cancer overexpressed 1;oral cancer overexpressed protein 1-A;oral cancer-overexpressed protein 1;tumor-amplified and overexpressed sequence 1 protein-coding ENSG00000149716 17589 06245 607224 VALIDATED 1323514 ORC2 origin recognition complex, subunit 2 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010] 2 2 q33 201483139 201536655 - 201774894 201828424 - 1580863;6480464;6907045 8808289;11095689;12791985;10436018;11125146;11931757;12045100;15226314;15684404;15707391;16762929;16407251;15910003;15489334;15232106;12912926;12897055;12614612;12477932;12393188;12364596;11779870;11602595;11509178;11395502;11323433;10954718;10835370;10523313;10402192;9765232;9733749;9660782;9353276;7502077;21383955;17716973;16428461;11046155;12441400;15342556;16344560;17525332;18001825;18761675;22939629;20360068;21947279;18234858;21139048;19471022;22681887;22334659;12004060;23188630;22935713 4999 B8ZZ80;C9JK08;Q13416 ABBA01062524;ABBA01062525;ABBA01062526;AC005037;AI033876;AK302614;AK316433;AMYH01011400;AY652588;BC014834;BM470184;BP264347;CA448165;CH471063;DA111542;DA545257;NM_006190;NR_033915;U27459;U40268 AAB33970;AAC50326;AAH14834;AAT46690;AAY14725;ABM85709;BAG63861;BAH14804;EAW70228;EAW70229;NP_006181;Q13416 Hs.444870 1646929;1648333;1789182;1789905;1789907;2108333;2170785;2181454;2191135 G65590;MARC_15249-15250:1012578106:1;ORC2L_7846;RH18054;RH65975;RH69617;SHGC-37435;csnporc2l-pcr1-1;csnporc2l-pcr13-1 ORC2L OTTHUMP00000163672;origin of replication 2-like;origin recognition complex protein 2 homolog;origin recognition complex subunit 2;origin recognition complex, subunit 2 homolog;origin recognition complex, subunit 2-like APPROVED protein-coding 8488 03112 601182 REVIEWED 1320971 ORC5 origin recognition complex, subunit 5 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010] 7 7 q22.1 103554024 103635699 - 103766788 103848495 - 1580863;6480464;6907045 9765232;15232106;10436018;11095689;11125146;11931757;12045100;15226314;15684404;15707391;19240061;15489334;12853948;12690205;12614612;12477932;11395502;11379876;11323433;10954718;10523313;9829972;9417919;9038340;8125298;10402192;18029348;17716973;20677014;19454010;22939629;20360068;21139048;21890473;21906983;12004060;22797925 5001 A4D0P7;B4DXT8;G3V0H0;O43913;Q53FC8 AACC02000005;ABBA01057976;ABBA01057977;ABBA01057978;AC002067;AC007393;AF047599;AF049127;AF081459;AK223361;AK292285;AK302122;AK313596;AMYH01017814;BC023652;BF678849;CH236947;CH471070;NG_029899;NM_002553;NM_181747;U92538 AAC51933;AAC63972;AAC64401;AAC80283;AAF19238;AAH23652;AAM49152;ABM83200;ABM86401;BAD97081;BAF84974;BAG36362;BAG63500;EAL24408;EAL24409;EAW83341;EAW83342;EAW83343;NP_002544;NP_859531;O43913 Hs.432948 1756571;1789909 SHGC-143604;csnporc5l-pcr1-1 ORC5L;ORC5P;ORC5T OTTHUMP00000211897;OTTHUMP00000211900;origin recognition complex subunit 5;origin recognition complex, subunit 5 homolog;origin recognition complex, subunit 5-like APPROVED protein-coding ENSG00000164815 8491 09086 602331 REVIEWED 1343496 ORC4 origin recognition complex, subunit 4 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010] 2 2 q22-q23 148408202 148495606 - 148687966 148779173 - 1580863;6480464;6907045;7240710 9353276;15232106;12791985;10436018;11095689;22333897;11125146;11931757;12045100;15226314;15684404;15707391;15910003;15489334;14702039;12614612;12477932;11483529;11395502;11323433;10954718;10523313;10460412;9829972;9691185;8125298;9765232;21383955;10402192;15342556;16344560;19074885;20010161;17716973;19454010;19690980;21358631;21358632;21832049;21963094;21988832;21139048;21890473;21906983;12004060;23263486;22053931 5000 A8K7H4;B7Z632;C9J2X8;C9JGH7;O43929;Q53SE3;Q96B14 ABBA01028010;ABBA01028011;ABBA01028012;ABBA01028013;ABBA01028014;AC009480;AC019226;AF022108;AF047598;AF132596;AK055257;AK128860;AK225092;AK291989;AK294878;AK295721;AK298862;AK299749;AMYH01011153;AV708885;AY600302;BC005388;BC014847;BC016177;BI603609;BM468640;BM926755;BP277082;BP345092;BQ716497;BX423253;CD242597;CH471058;DA120022;DA227202;DB558580;DC302315;DC317404;DC329505;DC365436;DC365653;DC399282;DC399552;NG_028252;NM_001190879;NM_001190881;NM_001190882;NM_002552;NM_181741;NM_181742 AAC01957;AAC80282;AAD22110;AAH14847;AAH16177;AAS94326;AAX93051;AAY24232;ABZ92520;BAF84678;BAH11910;BAH12166;BAH12887;BAH13118;EAX11555;EAX11556;EAX11557;EAX11558;EAX11559;EAX11560;NP_001177808;NP_001177810;NP_001177811;NP_002543;NP_859525;NP_859526;O43929 Hs.558364 1657704;1659819;1686654;1716191;2160291;2191259;2219412;5015615;5016403 D11S3076;G02304;G09491;G31525;G35009;MARC_16821-16822:1021560530:2;ORC4L__5787;RH121118;RH98206 FLJ46668;ORC4L;ORC4P OTTHUMP00000162673;origin recognition complex subunit 4;origin recognition complex, subunit 4 homolog;origin recognition complex, subunit 4-like APPROVED protein-coding 8490 09118 603056;613800 REVIEWED 1351569 ORM1 orosomucoid 1 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] 9 9 q31-q32 116125157 116128578 + 117085303 117088759 + 1580863;2316639;6480464 16166348 16272158;2822385;3360326;21726491;14718574;19395425;19141860;19018521;18981009;18823996;18680736;18510947;18273814;17987628;17944232;17675532;17321687;17048007;16740002;16335952;16290938;16261636;15489334;15253437;15111541;15084671;15013397;14760718;12754519;12576428;12480518;12477932;11925509;11911961;11814462;11418606;11336643;11027547;9380773;9050929;8432561;8076819;6809283;4711474;4603214;4561179;3795040;3770479;3463531;2970990;2541064;2479939;2409529;1567356;7795416;19198000;19459043;19616527;19794411;19958090;20237496;20442402;20959405;20617306;20371432;21349832;21300760;22147846;22048274;18624398;21621584;22216449;22574522;22708402;22908695;22587817;21988832;23192962;22889924;23381943;22807450;22633841 5004 AAB33887;F5H794;P02763 AB014887;ABBA01042671;AK312035;AK316207;AL356796;AMYH01021673;BC007032;BC026238;BC104818;BC104820;BC143313;BC143314;BI908589;BT019790;CH471090;M13692;N68733;NG_012108;NM_000607;X02544;X05779 AAA35515;AAB33887;AAH26238;AAI04819;AAI04821;AAI43314;AAI43315;AAV38593;BAA34292;BAG34972;BAH14578;CAA26397;CAA29229;EAW87416;NP_000598;P02763 Hs.522356 1725563;1849057;5091875 G62008;RH11587;STS-X05784 AGP-A;AGP1;ORM AGP 1;OMD 1;OTTHUMP00000022741;alpha-1-acid glycoprotein 1;orosomucoid-1 APPROVED protein-coding ENSG00000229314 8498 00724 138600 REVIEWED 1318236 ORC3 origin recognition complex, subunit 3 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008] 6 6 q14.3-q16.1 88356562 88433888 + 88299785 88377172 + 1580863;6480464;6907045 18628273;9829972;15232106;17525332;12791985;10402192;10436018;11095689;11125146;11931757;12045100;15226314;15684404;15707391;19074885;12004060;15910003;15489334;14702039;12614612;12477932;11395502;11323433;11230166;10954718;10702681;8125298;17716973;20800603;8889548;12441400;18761675;21832049;22939629;20360068;21903422;21139048;21890473;21906983;21963094;19471022;23251661 23595 B4DZ51;Q9UG44 ABBA01040497;ABBA01040498;ABBA01040499;ABBA01040500;ABBA01040501;ABBA01040502;ABBA01040503;AF093535;AF125507;AF135044;AK094135;AK222795;AK302750;AK303056;AK303182;AK303195;AK315911;AK316298;AL080116;AL133211;AL451126;AMYH01016493;AMYH01016494;AY623113;BC035494;BC047689;BF215571;BM971022;CH471051;CR456814;DC395106;NM_001197259;NM_012381;NM_181837;U50950 AAA96313;AAD18057;AAD30282;AAD40220;AAH35494;AAH47689;AAT38109;ABZ92519;ACE87234;BAD96515;BAG63963;BAG64276;BAG64287;BAH13891;BAH14282;BAH14669;CAB45715;CAG33095;EAW48581;EAW48582;EAW48583;NP_001184188;NP_036513;NP_862820;Q9UBD5 Hs.410228 2110629;2138172;5022651;5111517 D11S2921;ORC3L_9379;RH68856;STS-H99257 LAT;LATHEO;ORC3L OTTHUMP00000016835;OTTHUMP00000183452;homolog of latheo, Drosophila;origin recognition complex subunit 3;origin recognition complex subunit Latheo;origin recognition complex, subunit 3 honolog;origin recognition complex, subunit 3-like APPROVED protein-coding ENSG00000135336 8489 05398 604972 REVIEWED 737236 ORM2 orosomucoid 2 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008] 9 9 q32 116131890 116135357 + 117092069 117095536 + 1580863;6480464 2970990;19584153;19018521;17987628;17048007;16335952;16331959;16290938;15863355;15489334;15253437;15084671;14760718;12528117;12480518;12477932;11752456;11587070;4711474;3679210;3631077;2822385;1567356;11336643;7795416;4603214;17207965;19958090;20237496;20617306;22363757 5005 C9JYM6;P19652 ABBA01042670;AK303760;AK312226;AL356796;AMYH01021673;AV661485;BC015964;BC056239;CH471090;CR456930;M21540;NM_000608;X06674;X06675;X06676;X06677;X06678;X06679;X06680 AAA51549;AAH15964;AAH56239;ADQ33217;BAG35159;BAG64727;CAA29873;CAA29874;CAG33211;EAW87417;NP_000599;P19652 Hs.719954 1656047;1725563;1849057;5091875 G17343;G62008;RH11587;STS-X05784 AGP-B;AGP-B';AGP2 AGP 2;OMD 2;OTTHUMP00000022746;alpha-1-acid glycoprotein 2;alpha-1-acid glycoprotein, type 2;orosomucoid-2 APPROVED protein-coding ENSG00000228278 8499 00725 138610 REVIEWED 1347149 ORMDL1 ORM1-like 1 (S. cerevisiae) 2 2 2 q32 184229906 184244025 - 190343295 190355677 - 190634993 190649097 - 1580863;6480464 12093374;17928364;16344560;16303743;14702039;12477932;11042152;21832049;21139048;21906983;23066021 94101 B9A069;Q9P0S3 AA603217;AB064959;AB064960;ABBA01062380;AC013468;AF151036;AF395701;AF395702;AF395704;AI674061;AK074756;AK075160;AK126336;AK313533;AMYH01011344;BC005200;CH471058;CQ782688;CQ783848;CR936635;CS185551;DB122266;NM_001128150;NM_016467 AAF36122;AAH05200;AAM43502;AAM43503;AAY14772;ADZ15767;BAC11184;BAC11441;BAC11710;BAC11711;BAG36310;CAF85924;CAF86890;CAI56776;CAJ42732;EAX10887;EAX10888;EAX10889;NP_001121622;NP_057551;Q9P0S3 Hs.700632 1679722;1725689;1763933;2114851;2144393;2173416;2184854;5022578;5037552 D1S1423;D8S2279;G62048;RH70070;RH93649;SGC38239;SHGC-147596;SHGC-61985;WI-18706 DKFZp686G141;FLJ44364 ORM1-like protein 1;OTTHUMP00000163495;OTTHUMP00000163496;OTTHUMP00000205712;OTTHUMP00000205713;OTTHUMP00000205714;adoplin-1 protein-coding ENSG00000128699 16036 15092 610073 VALIDATED 1322900 ORC6 origin recognition complex, subunit 6 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010] 16 16 q12 45281059 45289807 + 46723558 46732306 + 1580863;6480464;6907045;7240710 21358632;15232106;10436018;11095689;11125146;11931757;12045100;15226314;15684404;15707391;19112505;17081983;16381901;15910003;15489336;15489334;14702039;12614612;12477932;12169736;11593009;11323433;11076863;10945994;10523313;8266075;12004060;21502537;17716973;18761675;19541634;21832049;18234858;21461783;21963094;23000965;19471022;21906983;22505724 23594 H3BMA4;H3BT22;H3BTQ7;Q9Y5N6 ABBA01013770;ABBA01013771;AC007225;AF139658;AK021946;AK024019;AK024077;AK310633;AMYH01007641;AMYH01007642;BC039032;BC050725;BC063565;BG822640;CH471092;NG_028241;NM_014321;NR_037620 AAD32666;AAH39032;AAH63565;BAB14817;BAG51061;BAG51251;CAL37524;CAL37788;CAL38556;EAW82685;EAW82686;NP_055136;Q9Y5N6 Hs.49760 1659353;1689745;5037670 D3S4354;RH70418;SHGC-33562 ORC6L OTTHUMP00000163361;origin recognition complex subunit 6;origin recognition complex, subunit 6 homolog-like;origin recognition complex, subunit 6 homolog-like (yeast);origin recognition complex, subunit 6 like APPROVED protein-coding ENSG00000091651 17151 06237 607213;613803 REVIEWED 6481156 OSBPL10-AS1 OSBPL10 antisense RNA 1 3 31745705 31763078 + 100874206 ABBA01024952;AC092024;AMYH01013057;AW468844;BX103488;NR_049771 Hs.662428 APPROVED miscrna ENSG00000232490 40767 VALIDATED 1605693 OS9 osteosarcoma amplified 9, endoplasmic reticulum lectin This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 12 12 q13 56374153 56401607 + 58087738 58115340 + 6480464;6483358;6907045 19364912 8090779;12077121;10403379;9562620;9498564;9192850;8634085;15721254;19084021;19346256;18952287;18417469;18264092;17932042;16344560;15231748;15146197;12747754;12477932;12093806;20549515;16169070;18502753;20936779;19914915;21172656;19706418;21404621;21559462;21906983;18711132;21857022;20546900;21890473;21963094;21988832;23097496;21118962;21917589;22190034 10956 B4E321;E7ENT8;F8VWQ2;F8VZI7;F8W0R2;F8W1N0;F8W1V2 AB002805;AB002806;ABBA01026694;AC025165;AK129781;AK130733;AK291374;AK293435;AK294870;AK296770;AK298532;AK303291;AK303858;AK304533;AL137691;AMYH01004524;AU132426;BC000532;BC006506;BC007254;BC023513;BQ954079;CH471054;CN335053;CR456791;EF036505;NG_029228;NM_001017956;NM_001017957;NM_001017958;NM_001261420;NM_001261421;NM_001261422;NM_001261423;NM_006812;U09408;U41635;U81031 AAB06495;AAC39523;AAH00532;AAH06506;AAH07254;AAH23513;ABM83685;ABM86982;ABO65091;BAA24362;BAA24363;BAF84063;BAG56939;BAG57972;BAG59349;BAG60733;BAG64798;BAG65333;BAH13933;CAG33072;EAW97044;EAW97045;EAW97046;EAW97047;NP_001017956;NP_001017957;NP_001017958;NP_001248349;NP_001248350;NP_001248351;NP_001248352;NP_006803;Q13438 Hs.527861 2167648;5491417 D9S2056;MARC_11519-11520:1001089863:1 ERLEC2;OS-9 OTTHUMP00000243422;OTTHUMP00000243423;OTTHUMP00000243428;OTTHUMP00000243429;OTTHUMP00000243431;OTTHUMP00000243432;OTTHUMP00000243433;OTTHUMP00000243435;amplified in osteosarcoma 9;endoplasmic reticulum lectin 2;erlectin 2;osteosarcoma amplified 9, endoplasmic reticulum associated protein;protein OS-9 APPROVED protein-coding ENSG00000135506 16994 17804 609677 REVIEWED 1321446 OSBP2 oxysterol binding protein 2 Oxysterols are byproducts of cholesterol that can have cytotoxic effects on many cell types. The membrane-bound protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 14890919 15103949 + 29420793 29633811 + 31090793 31303811 + 1580863;6480464 18294060;17350617;14702039;12964051;12477932;11802775;11735225;11483621;11278871;11258795;10591208;19913121;20628086;20379614;21900206;21763455;19322201;17428193 23762 B0QYF9;B4DFA8;B4DKE4;B4DTR3;C9J7J0;C9JS84;F5H2A3;H7C001;H7C1R2;H7C313;H7C368;H7C428;Q0VF99;Q6ZN50;Q8NA37;Q969R2 AB051451;ABBA01055305;ABBA01055306;ABBA01055307;ABBA01055308;ABBA01055309;ABBA01055310;ABBA01055311;ABBA01055312;ABBA01055313;ABBA01055314;AC004542;AF288741;AF288742;AF323731;AK093196;AK097581;AK131374;AK294007;AK296354;AK296525;AK300323;AL022336;AL079299;AMYH01012710;AMYH01012711;BC004340;BC018025;BC118914;CH471095;NM_030758 AAC12953;AAG53406;AAI18915;AAK56864;AAK56865;BAB33334;BAC04091;BAD18525;BAG57369;BAG59036;BAG59156;BAG62075;EAW59916;EAW59917;EAW59918;EAW59919;NP_110385;Q969R2 Hs.517546 1652220;1659843;1711596;1711598;1748395;1856807;2109611;2114162;2125835;2141149;2141151;2143108;2144297;2147336;5093902;7184821 1200;A002C02;A009Y34;AL021657;D22S1544;D22S447;D22S999E;G18178;G19912;G32991;G49299;G49300;G65732;OSBP2_9399;SGC34075;SHGC-58288 ORP-4;ORP4;OSBPL1;OSBPL4 OSBP-related protein 4;OTTHUMP00000199262;OTTHUMP00000199263;OTTHUMP00000199264;OTTHUMP00000199265;OTTHUMP00000199270;OTTHUMP00000199271;OTTHUMP00000199272;oxysterol binding protein-like 1;oxysterol binding protein-related protein 4;oxysterol-binding protein 2;oxysterol-binding protein-related protein 4 APPROVED protein-coding ENSG00000184792 8504 09471 606729 REVIEWED 1313791 ORMDL2 ORM1-like 2 (S. cerevisiae) 12 12 12 q13.2 55864167 55867320 + 54498073 54501226 + 56211806 56214959 + 6480464 15489334;12477932;12093374;11042152;8125298;21906983;21987572;23066021 29095 F8VWV8;F8VXD5;Q53FV1 AB064961;ABBA01008390;AC023055;AF161509;AF173375;AF395705;AF395706;AF395707;AK223180;AK314046;AMYH01004497;AW339474;BC012543;BG750383;CH471054;NM_014182 AAF29124;AAH12543;AAM43504;AAM43505;AAM43506;AAQ13618;ACE86589;ACE87271;BAC11712;BAD96900;BAG36755;EAW96840;NP_054901;Q53FV1 Hs.534450;Hs.709320 1654650;1666630 SHGC-64831;WI-12249 HSPC160;MST095;MSTP095;adoplin-2 ORM1-like protein 2;OTTHUMP00000243218;OTTHUMP00000243219;OTTHUMP00000243221;expressed in normal aorta protein-coding 16037 17802 610074 VALIDATED 1317627 OSBP oxysterol binding protein Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008] 11 11 q12-q13 59098447 59140193 - 59341871 59383617 - 1580863;6480464 1970801;18165705;17081983;16571669;15746430;15489334;15302935;12477932;12023275;11735225;11278871;10588946;1730758;19570870;20178991;20444975;20545625;19913121;20628086;21285358;22863883;22875984;21139048;21906983;22145905;19322201;21988961;22113938;23000965 5007 H0YCV6;P22059 ABBA01021504;ABBA01021505;AF185696;AF185697;AF185698;AF185699;AF185700;AF185701;AF185702;AF185703;AF185704;AF185705;AK299071;AK310538;AMYH01003661;AP000442;BC011581;BC017975;BC051350;BC063121;CH471076;M86917;NM_002556 AAA59973;AAG17011;AAG28373;AAH11581;AAH63121;BAG61137;EAW73849;NP_002547;P22059 Hs.597091 1667888;1725785;1742529;1774569;2117821;2129690;2219416;5014063 A006U09;D15S1390;G62074;GDB:197854;OSBP;OSBP__5791;RH11618;RH70353 OSBP1 OTTHUMP00000235906;oxysterol-binding protein 1 APPROVED protein-coding ENSG00000110048 8503 01327 167040 REVIEWED 1350183 OSBPL10 oxysterol binding protein-like 10 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 p22.3 31639913 31959930 - 31677321 31998242 - 31702317 32023342 - 1580863;6480464 18029348;16806233;15489334;12477932;11735225;11483621;20610895;19554302;19615732;20224571;20379614;22906437;21987572;21139048;21906983;17428193 114884 H7C199;H7C487;Q9BXB5;Q9NX98 AB209872;ABBA01024948;ABBA01024949;ABBA01024950;ABBA01024951;ABBA01024952;ABBA01024953;AC092024;AC107620;AC108485;AF346291;AF392451;AI798005;AK000370;AK024945;AK304067;AL389943;AL833247;AMYH01013056;AMYH01013057;BC003168;CH471055;DC377079;NM_001174060;NM_017784 AAH03168;AAK31140;AAL40664;BAA91118;BAD93109;BAG64974;EAW64417;EAW64418;NP_001167531;NP_060254;Q9BXB5 Hs.150122 1667761;1714987;1764579;1778840;2113718;2124744;2144706;2158620;2166237;5022578;5037552;5093140;5123979 A004W44;A009H21;AB070092;D1S1423;D3S3433;D3S3437;D8S2279;G29155;G32544;RH120830;RH93690;SHGC-148170;SHGC-76803 FLJ20363;ORP10;OSBP9 ORP-10;OSBP-related protein 10;OTTHUMP00000161257;OTTHUMP00000208754;OTTHUMP00000208755;oxysterol-binding protein-related protein 10 APPROVED protein-coding 16395 09480 606738 REVIEWED 1352369 ORMDL3 ORM1-like 3 (S. cerevisiae) 17 17 q12 35330822 35337380 - 38077296 38083884 - 1580863;6480464 22561531;19175592;19133921;18760456;18587394;18395550;18310477;18155279;17611496;16303743;15489334;14702039;12477932;12093374;11042152;16169070;21102463;22889411;16344560;20601676;19264973;19430480;19732864;19819884;19820697;20182505;20228799;20372189;20503266;17207965;20816195;20860503;21072187;20639880;21150878;21399635;21297633;23066021;23461825;21546069;19322201;22271045;21843571;22015541;21906983;21139048;21890473;22017802;21829393;21832049;22732088;23011799;23000144;23128233;23157251;23100328 94103 J3KTF9;J3QRM9;Q8N138 ABBA01031852;AC090844;AF151043;AF373101;AF373102;AF395708;AK074811;AK075212;AK093063;AMYH01008376;AX775843;AY357943;BC000638;BC017087;BC018837;BC050710;BC054042;BC071833;CH471152;CQ782744;CQ783311;CS300504;DB127807;NM_139280 AAF36129;AAH17087;AAH71833;AAM43507;AAN76521;AAN76522;AAQ57273;ADQ31970;BAC11223;BAC11476;BAG52645;CAE11621;CAF85976;CAF86524;CAK32168;EAW60616;EAW60617;EAW60618;EAW60619;EAW60620;NP_644809;Q8N138 Hs.514151 1648167;2107477;5014053 D1S3693;ORMDL3__7060;STS-N90879 ORM1-like protein 3;OTTHUMP00000164333;OTTHUMP00000164334 protein-coding ENSG00000172057 16038 17803 610075 VALIDATED 1316402 OSBPL11 oxysterol binding protein-like 11 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008] 3 3 3 q21 123657393 123724531 - 126730392 126796629 - 125247702 125314381 - 1580863;6480464 19325544;17081983;16964243;16344560;15489334;15302935;14702039;12477932;11735225;11483621;9110174;8619474;21145461;19913121;20628086;19615732;20599956;22863883;23028956;20811636;21832049;21139048;21890473;21906983;19322201 114885 Q9BXB4;Q9GZM0 ABBA01016412;ABBA01016413;ABBA01016414;ABBA01016415;ABBA01016416;ABBA01016417;ABBA01016418;AC016959;AF318344;AF346292;AF392454;AK023074;AK023226;AK292702;AMYH01013443;AY007102;BC010422;BC065213;BX506747;CH471052;DA112146;DA722217;NM_022776 AAH10422;AAH65213;AAK31141;AAL40667;AAL55851;ACE86643;ACE87325;ADZ15899;BAB14391;BAB14477;BAF85391;EAW79389;NP_073613;Q9BXB4 Hs.477440 1682495;1688901;1699504;5024039;5037552 D16S325;D8S2279;RH103346;RH75514;RH94277 FLJ13012;FLJ13164;ORP-11;ORP11;OSBP12;TCCCIA00292 OSBP-related protein 11;OTTHUMP00000215865;oxysterol-binding protein-related protein 11 APPROVED protein-coding ENSG00000144909 16397 09481 606739 REVIEWED 731675 OSBPL1A oxysterol binding protein-like 1A This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008] 18 18 18 q11.1 18558319 18792861 - 19996007 20231788 - 21742009 21977833 - 1580863;6480464 11279184;10588946;19564404;18464913;18369178;17081983;16176980;14702039;12631712;12477932;11735225;11483621;20690035;20379614;20548944;16147992;18029348;21906983;22728266;17428193 114876 B0YJ56;B3KU11;E7ER58;J3KRT6;J3KSG6;J3KTA6;J3QLA2;J3QS61;J3QSB8;Q6GSK5;Q9BXW6 ABBA01022612;ABBA01022613;ABBA01022614;ABBA01022615;ABBA01022616;ABBA01022617;ABBA01022618;ABBA01022619;AC023983;AC090772;AF274714;AF323726;AF392449;AF392450;AK001079;AK021898;AK096358;AK292895;AK301862;AK314552;AMYH01008891;AMYH01008892;BC007004;BC022293;BC041563;BC063420;BC073854;BC098384;BC136452;BC144117;BX647893;CH471088;EF445004;NG_029432;NM_001242508;NM_018030;NM_080597 AAG53407;AAH07004;AAH41563;AAH63420;AAH73854;AAH98384;AAI36453;AAI44118;AAK15154;AAL40662;AAL40663;ACA06034;ACA06035;BAF85584;BAG37138;BAG53273;BAH13569;EAX01180;EAX01181;EAX01182;EAX01183;NP_001229437;NP_060500;NP_542164;Q9BXW6 Hs.370725 1686843;1691208;1752851;1762301;1762433;1774062;1779546;1856053;2144479;2154327;5015861;5016478;5020635;5037552;5108080;5109281;5109663;7185938 D10S16;D1S1425;D7S2067E;D7S3207;D8S2279;GDB:434012;RH15637;RH66753;RH81016;RH94026;SGC33172;SHGC-106708;SHGC-146149;SHGC-146258;SHGC-153521;STS-AA017150;UniSTS:43101 FLJ10217;ORP-1;ORP1;OSBPL1B OSBP-related protein 1;OTTHUMP00000162780;OTTHUMP00000162781;oxysterol binding protein-like 1B;oxysterol-binding protein-related protein 1;oxysterol-binding protein-related protein 1 variant 1;oxysterol-binding protein-related protein 1 variant 2 APPROVED protein-coding ENSG00000141447 16398 09472 606730 REVIEWED 1318914 OSBPL6 oxysterol binding protein-like 6 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 2 q32.1 172662267 172863763 + 178767620 178969123 + 179059208 179264160 + 1580863;6480464 19401682;14702039;14593528;12477932;11735225;11483621;10588946;19596235;22747683;23166209;22190034 114880 Q59H61;Q86V84 AB208898;ABBA01062243;ABBA01062244;AC009948;AC011238;AC011743;AF323728;AF392448;AF462443;AK025168;AK027600;AK093902;AK123248;AK300389;AMYH01011305;BC021248;BC052259;BX647557;CA425863;CH471058;NM_001201480;NM_001201481;NM_001201482;NM_032523;NM_145739 AAG53409;AAH21248;AAH52259;AAL40661;AAP97711;AAX88881;AAY15090;BAB55223;BAC04248;BAD92135;BAG62123;EAX11039;EAX11040;EAX11041;EAX11042;EAX11043;NP_001188409;NP_001188410;NP_001188411;NP_115912;NP_665682;Q9BZF3 Hs.318775 1724085;1724093;2132439;2154664;2174802;2181055;5017170;5020948;5124254 D2S1605E;D2S1970;G09529;G35510;L29953;RH118784;RH118788;RH12373;RH93339 DKFZp686M06110;FLJ36583;FLJ41254;MGC59642;ORP6 ORP-6;OSBP-related protein 6;OTTHUMP00000205303;OTTHUMP00000205304;OTTHUMP00000205306;OTTHUMP00000205307;OTTHUMP00000205308;oxysterol-binding protein-related protein 6 APPROVED protein-coding ENSG00000079156 16388 09476 606734 REVIEWED 7246245 OSBPL9P1 oxysterol binding protein-like 9 pseudogene 1 100130821 ABBA01031038;AC106726;AMYH01013303;NG_022251 1710444;1723953 RH118709;SHGC-82520 pseudo 48731 INFERRED 7246787 OSBPL9P2 oxysterol binding protein-like 9 pseudogene 2 17903295;17903303;20041166 100130038 ABBA01040066;AMYH01003942;AP003386;NG_023263 1686102;1718523;1728383;1731549;1732271;1765479;2149423;2183080 D11S1259;D11S1825;D11S4037;D11S4952;G63474;RH122463;RH44964;SHGC-148962 pseudo 48732 INFERRED 7246424 OSBPL9P3 oxysterol binding protein-like 9 pseudogene 3 100420591 ABBA01040066;AMYH01003942;AP003386;NG_024546 1686102 RH44964 pseudo 48733 INFERRED 1350234 OSBPL3 oxysterol binding protein-like 3 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Several transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 7 7 p15 24802684 24986285 - 24836159 25019760 - 1580863;6480464 17353931;18270267;16143324;15489334;15324660;14593528;12853948;12690205;12590732;12477932;11735225;11568019;11483621;10588946;9847074;9734811;15778465;20379614;19322201;21890473;21906983;17428193;22190034 26031 C9J8P4;C9JEF2;C9JZ19;Q8NFH1 AACC02000007;AB014604;ABBA01056726;ABBA01056727;ABBA01056728;ABBA01056729;AC003093;AC004008;AC004016;AC004239;AF323727;AF392444;AF491781;AF491782;AF491783;AF491784;AF491785;AF491786;AF515639;AF515640;AL832293;AMYH01017118;AY008372;BC017731;CH236948;CH471073;NM_015550;NM_145320;NM_145321;NM_145322 AAB83939;AAC26986;AAG23400;AAG53408;AAH17731;AAL40657;AAM27386;AAM27387;AAM27388;AAM27389;AAM27390;AAM27391;AAM74165;AAM74166;BAA31679;EAL24240;EAL24241;EAL24242;EAL24243;EAL24244;EAL24245;EAW93818;EAW93819;EAW93820;EAW93821;NP_056365;NP_663160;NP_663161;NP_663162;Q9H4L5 Hs.520259 1335638;1644203;1646760;1663165;1691512;1691700;1696802;1756337;1768387;2119465;2141920;2156730;2156946;2178033;7187786;7187793 D1S1633;D7S2031;D7S2493;G42153;G42168;G49144;GDB:1318034;GDB:1318308;GDB:1318553;RH11032;RH12073;RH45727;SHGC-143320;STS-R64600 DKFZp667P1518;KIAA0704;MGC21526;ORP-3;ORP3;OSBP3 OSBP-related protein 3;OTTHUMP00000122489;OTTHUMP00000122490;OTTHUMP00000122491;OTTHUMP00000202008;OTTHUMP00000202009;OTTHUMP00000202019;OTTHUMP00000202020;oxysterol-binding protein 3;oxysterol-binding protein-related protein 3 APPROVED protein-coding ENSG00000070882 16370 09474 606732 REVIEWED 7246196 OSBPL9P6 oxysterol binding protein-like 9 pseudogene 6 100533673 AACC02000087;ABBA01056814;AC004691;AMYH01017151;NG_028678 pseudo 48736 INFERRED 7246857 OSBPL9P4 oxysterol binding protein-like 9 pseudogene 4 12 66957034 66963321 - 100498661 ABBA01026572;ABBA01026573;AC090710;AMYH01004556;NG_023269 pseudo 48734 INFERRED 1322699 OSBPL2 oxysterol binding protein-like 2 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 57548717 57606426 + 60246975 60304664 + 60813580 60871269 + 1580863;6480464 15489334;12477932;11861666;11780052;11735225;11483621;11279184;10588946;9872452;19913121;20628086;19224871;19554302;16344560;21139048;21890473;21906983;19322201;17428193 9885 E7ET92;H0Y7X4;Q9H1P3 AB018315;ABBA01040099;ABBA01040100;AF331963;AF392447;AK000230;AK124174;AK291851;AK296595;AK315576;AL354836;AMYH01012048;AY028168;BC000296;BC004455;BC018812;BF507780;CH471077;CR456722;DA301911;NM_001278649;NM_014835;NM_144498 AAG53416;AAH00296;AAH04455;AAK18044;AAL40660;ABM82322;ABM85501;BAA34492;BAF84540;BAG37950;BAG59210;CAG33003;EAW75377;EAW75378;EAW75379;NP_001265578;NP_055650;NP_653081;Q9H1P3 Hs.473254 2114010;2130988;5015961;5016781;5020944;5022322;5037552 AB063037;AF044685;D11S2560;D15S1477;D8S2279;SHGC-67307;STS-N95070 FLJ20223;KIAA0772;MGC4307;MGC8342;ORP-2;ORP2 OSBP-related protein 2;OTTHUMP00000031478;OTTHUMP00000031479;oxysterol-binding protein-like 2;oxysterol-binding protein-related protein 2 APPROVED protein-coding ENSG00000130703 15761 09473 606731 REVIEWED 1318150 OSBPL5 oxysterol binding protein-like 5 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010] 11 11 11 p15.4 3142226 3222215 - 3064922 3143116 - 3108346 3186582 - 1580863;6480464 10588946;17474147;19032366;17081983;16806233;16381901;15489336;15489334;14702039;12504849;12477932;11735225;11483621;11230166;11076863;10819331;19019082;20201924;20644730;21220512;21832049;21139048;21890473;17428193 114879 A8KAD5;B4DVB0;E9PIJ6;E9PJE6;E9PLN3;E9PNH0;E9PPQ2;E9PQB4;E9PRA9;F5GZ42;H0YCD7;Q9H0X9 AB074006;ABBA01032069;ABBA01032070;ABBA01032071;ABBA01032072;ABBA01032073;AC108448;AF331964;AF392453;AF410430;AK055617;AK056510;AK124919;AK293000;AK297475;AK301003;AK303205;AK309411;AL136918;AMYH01003327;BC017505;BC032646;BC039579;CH471158;DC400863;NG_009548;NM_001144063;NM_020896;NM_145638 AAG53417;AAH17505;AAH32646;AAH39579;AAK98617;AAL40666;BAB85686;BAF85689;BAG51544;BAG51735;BAG54112;BAG59896;BAG62622;BAG64295;CAB66852;CAL37769;CAL38302;EAX02542;EAX02543;NP_001137535;NP_065947;NP_663613;Q9H0X9 Hs.436166 1681139;1738175;1761453 D11S3806;RH92244;SHGC-145461 FLJ42929;OBPH1;ORP5 ORP-5;OSBP-related protein 5;OTTHUMP00000013404;OTTHUMP00000013405;OTTHUMP00000229527;OTTHUMP00000230479;oxysterol-binding protein homolog 1;oxysterol-binding protein homologue 1;oxysterol-binding protein-related protein 5 APPROVED protein-coding ENSG00000021762 16392 09475 606733 REVIEWED 1319316 OSBPL7 oxysterol binding protein-like 7 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 17 17 17 q21 42337538 42351952 - 43239732 43254146 - 45884733 45899147 - 1580863;6480464 15489334;14593528;12477932;11735225;11483621;8889548;19913121;20628086;20379614;21669198;21763455;20686565;23535033;17428193 114881 J3QLK7;J3QSC2;Q8WXP9;Q9BZF2 AB208886;ABBA01041146;AC003665;AF323729;AF392446;AI955239;AK289523;AMYH01008451;BC028010;BC065482;BM674891;CH471109;NM_145798 AAG53410;AAH28010;AAH65482;AAL40659;BAD92123;BAF82212;EAW94800;EAW94801;EAW94802;EAW94803;NP_665741;Q9BZF2 Hs.463320 1681454;1720965;2141193;2191451 G59312;MARC_23479-23480:1041546652:1;RH64830;STS-AA039646 MGC71150;ORP7 ORP-7;OSBP-related protein 7;oxysterol-binding protein-related protein 7 APPROVED protein-coding ENSG00000006025 16387 09477 606735 REVIEWED 1323003 OSBPL9 oxysterol binding protein-like 9 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010] 1 1 1 p32.3 50369074 50541429 + 51855352 52026729 + 52082546 52254891 + 1580863;6480464 16962287;14702039;12477932;11735225;11483621;19913121;20628086;15212954;16344560;19129476;20599956;19377067;19554302;19615732;19413330;20811636;21139048;21890473 114883 B1AKJ6;E9PJ80;E9PJW9;E9PK98;E9PKX6;E9PLH0;E9PNR1;G8JLK0;H0YCW0;H0YDB5;H0YE19;H0YE93;J3KPA3;Q8TAS8 AB208851;ABBA01074788;ABBA01074789;ABBA01074790;ABBA01074791;ABBA01074792;AF392445;AK022554;AK027535;AK027707;AK056617;AK074392;AK091703;AK124037;AK128043;AK297656;AK315167;AL050343;AL772260;AL831767;AMYH01000616;AMYH01000617;AMYH01000618;AY178997;BC006160;BC025978;BQ230093;CH471059;CR457288;DB081133;EL953716;NM_024586;NM_148904;NM_148905;NM_148906;NM_148907;NM_148908;NM_148909;NR_036662 AAH06160;AAH25978;AAL40658;AAO20108;BAB14096;BAB55184;BAB55312;BAC03727;BAD92088;BAG51766;BAG53995;BAG54621;BAH12642;CAG33569;EAX06810;EAX06811;EAX06812;EAX06813;EAX06814;EAX06815;EAX06816;EAX06817;EAX06818;EAX06819;NP_078862;NP_683702;NP_683703;NP_683704;NP_683705;NP_683706;NP_683707;Q96SU4 Hs.21938;Hs.738830 1337801;1663238;1670096;1686102;1706922;2122287;2146389;2185801;7187803 D1S231;HSC20B072;RH11811;RH44964;SHGC-35117;SHGC-74825;SHGC-74833;SHGC-80950 FLJ12492;FLJ14629;FLJ14801;FLJ32055;FLJ34384;MGC15035;ORP-9;ORP9 ORP-9;OSBP-related protein 9;OTTHUMP00000009940;OTTHUMP00000009941;OTTHUMP00000009942;OTTHUMP00000009943;OTTHUMP00000009985;OTTHUMP00000231673;OTTHUMP00000231677;OTTHUMP00000231678;oxysterol-binding protein-related protein 9 APPROVED protein-coding ENSG00000117859 16386 09479 606737 REVIEWED 1603587 OSCAR osteoclast associated, immunoglobulin-like receptor Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex (LRC) protein family that plays critical roles in the regulation of both innate and adaptive immune responses. Different from the other LRC members, OSCAR expression is detected specifically in preosteoclasts or mature osteoclasts. OSCAR may be an important bone-specific regulator of osteoclast differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.42 59289745 59295960 - 54597933 54604148 - 6480464 18821671;16493074;16109714;16007331;15905516;15650060;15155468;14702039;12477932;11805147;1185147;15085135;19453261;20237496;21172874;21841309;22009730;22985931;23006423 126014 A8MWV3;Q8IYS5 ABBA01068176;AC012314;AF251702;AF391162;AF391163;AF391164;AF474152;AF474153;AK091111;AK130199;AK311307;AMYH01009976;BC035023;BG722509;CH471135;NM_130771;NM_133168;NM_133169;NM_206818 AAH35023;AAL68495;AAL68496;AAL68497;AAM19095;AAQ05766;AAQ05767;ABM84623;ABM85659;BAC03586;EAW72174;EAW72175;EAW72176;EAW72177;EAW72178;NP_570127;NP_573398;NP_573399;NP_996554;Q8IYS5 Hs.347655 1749737;1803394;1831508;1832166;1844454;2040938;2040940;2040942;2040944;2040946;2040948;2040950;2040952;2040954;2040956;2040958;2040960;2040962;2040964;2040966;2040968;2040970;2040972;2040974;2040976;2040978;2040980;2040982;2040984;2040986;2040988;2040990;2040992;2040994;2040996;2040998;2041000;2041002;2041004;2041006;2103554;2103556;2103558;2161833;5014053 D1S3693;D9S923;ECD02594;ECD16891;ECD17221;ECD23441;REN91503;REN91504;REN91505;REN91506;REN91507;REN91508;REN91509;REN91510;REN91511;REN91512;REN91513;REN91514;REN91515;REN91516;REN91517;REN91518;REN91519;REN91520;REN91521;REN91522;REN91523;REN91524;REN91525;REN91526;REN91527;REN91528;REN91529;REN91530;REN91531;REN91532;REN91533;REN91534;REN91535;REN91536;REN91537;SHGC-111407;stSG605779;stSG605784;stSG605786 MGC33613;PIGR3 OTTHUMP00000067447;OTTHUMP00000067448;OTTHUMP00000067450;OTTHUMP00000067451;OTTHUMP00000067452;OTTHUMP00000067460;OTTHUMP00000081759;PIgR-3;hOSCAR;osteoclast associated receptor OSCAR-S1;osteoclast associated receptor OSCAR-S2;osteoclast-associated immunoglobulin-like receptor;osteoclast-associated receptor;poly-Ig receptor 3;polymeric immunoglobulin receptor 3 APPROVED protein-coding ENSG00000170909 29960 06035 606862 REVIEWED 7242851 OSGEPL1-AS1 OSGEPL1 antisense RNA 1 16344560 101409258 AC013468;BF695378;BX474356;DB142079;NR_102429 5024756 RH80030 miscrna 41009 VALIDATED 1348483 OSBPL8 oxysterol binding protein-like 8 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q14 76411526 76618915 - 75269708 75477720 - 76745577 76953589 - 1580863;6480464 17081983;18029348;17991739;17672918;16806233;15489334;14702039;12477932;12168954;11735225;11483621;10819331;1735225;20379614;20562859;23028956;22990118;21698267;21139048;21890473;21906983;22586326;17428193;22797925 114882 F8VQX7;F8VS33;F8VUA7;F8VVD3;F8VVE7;F8VZ43;F8VZB8;F8W060;F8W1F1;Q5HYM3;Q9BZF1 AB040884;ABBA01053545;ABBA01053546;ABBA01053547;ABBA01053548;AC117491;AC122687;AC124943;AF173895;AF323730;AF392452;AK055835;AK092160;AK172813;AK289997;AL049923;AL832876;AMYH01004599;BC012935;BC082235;BC093834;BC101529;BC111728;BC143251;BX647211;CH471054;CR749542;NM_001003712;NM_020841 AAG53411;AAH12935;AAH82235;AAH93834;AAI01530;AAI11729;AAL40665;AAQ13642;BAA95975;BAB71026;BAD18783;BAF82686;CAH18345;CAI46050;EAW97324;EAW97325;EAW97326;EAW97327;NP_001003712;NP_065892;Q9BZF1 Hs.430849 1649159;1668742;1686026;1768025;1855155;2120310;2219414 A008I27;D12S1061;D12S1458;OSBPL8__5792;RH68111;RH93610;WI-17709 DKFZp686A11164;MGC126578;MGC133203;MST120;MSTP120;ORP8;OSBP10 ORP-8;OSBP-related protein 8;OTTHUMP00000242347;OTTHUMP00000242348;OTTHUMP00000242349;OTTHUMP00000242350;OTTHUMP00000242351;oxysterol-binding protein-related protein 8 APPROVED protein-coding ENSG00000091039 16396 09478 606736 REVIEWED 1344213 OSIL oxidative stress induced like 1580863 8650207 54211 Q13502 U46752 8505 1350756 OSER1 oxidative stress responsive serine-rich 1 20 20 20 q13.11 39533733 39548030 - 42258550 42272845 - 42824579 42839546 - 6480464 17148688;15489334;14702039;12477932;11780052;11042152;17207965;21906983;21987572;21963094 51526 Q9NX31 ABBA01052634;AF151041;AF161517;AF217514;AK000476;AK315155;AL035447;AL133000;AMYH01011932;BC064973;BF109349;BI462161;CH471077;NM_016470 AAF29132;AAF36127;AAF67625;AAH64973;ADQ32565;BAA91191;BAG37601;CAB61348;EAW75938;EAW75939;NP_057554;Q9NX31 Hs.75798 1659227;1683976;1772952;1784406;1853241;2178264 A002H21;RH46378;RH66088;RH75722;SHGC-32941;WI-12515 C20orf111;HSPC207;Osr1;Perit1;dJ1183I21.1 OTTHUMP00000031041;OTTHUMP00000031042;oxidative stress responsive 1;oxidative stress-responsive 1;oxidative stress-responsive protein 1;oxidative stress-responsive serine-rich protein 1;peroxide-inducible transcript 1;peroxide-inducible transcript 1 protein;uncharacterized protein C20orf111 APPROVED protein-coding 16105 12739 VALIDATED 1606165 OSCP1 organic solute carrier partner 1 1 1 1 p34.3 35159276 35191869 - 36656094 36688639 - 36883507 36916086 - 6480464 16006562;15489334;14702039;12819961;12477932;8889548;19727524;15146197;16344560;18237537;20379614;21441570;21803736 127700 C9JF58;H0YAG0;H0YDT3;H7C0S2;Q8WVF1 AA505729;AB079075;ABBA01023295;ABBA01023296;AC119675;AF086535;AF462348;AK098541;AMYH01000497;AW136490;AW471215;BC018069;BF691288;BU854079;CA450619;CH471059;CN430132;DA297022;NM_145047;NM_206837 AAH18069;AAL89738;ABM86513;ABW03659;BAC05326;BAE16984;EAX07364;EAX07365;EAX07366;NP_659484;NP_996668;Q8WVF1 Hs.202207 C1orf102;MGC26685;NOR1 OTTHUMP00000009841;OTTHUMP00000009843;OTTHUMP00000009844;OTTHUMP00000232884;OTTHUMP00000232885;hOSCP1;organic solute carrier protein 1;organic solute transport protein 1;oxidored nitro domain containing protein;oxidored-nitro domain-containing protein 1;protein OSCP1 protein-coding ENSG00000116885 29971 16393 608854 VALIDATED 1313685 OSGEPL1 O-sialoglycoprotein endopeptidase-like 1 2 2 2 q32.2 184206295 184222840 - 190319631 190336169 - 190611386 190627924 - 1580863;6480464 14702039;12477932;20877624;19578062 64172 E5RGZ1;E5RIL9;E7EVL7;Q9H4B0 ABBA01062380;AC013468;AJ295148;AK055441;AK294841;AK314565;AMYH01011344;BC011904;CH471058;HB913291;HB930734;HB947813;HC970700;HC988143;HD005223;NM_022353 AAH11904;AAY14771;ABM83973;ABM87290;BAB70923;BAG57948;CAC14666;CBF91713;CBG00264;CBG08622;CBV05233;CBV13784;CBV22144;EAX10890;EAX10891;NP_071748;Q9H4B0 Hs.60772 1685864;1856971 RH11855;RH92442 Qri7 O-sialoglycoprotein endopeptidase like 1;O-sialoglycoprotein endopeptidase-like protein 1;OTTHUMP00000225883;OTTHUMP00000225884;OTTHUMP00000225885;probable O-sialoglycoprotein endopeptidase 2;probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1;putative sialoglycoprotease type 2;t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1 protein-coding ENSG00000128694 23075 07026 VALIDATED 1318432 OSGEP O-sialoglycoprotein endopeptidase 14 14 14 q11.2 776357 784417 - 19985056 19993038 - 20915207 20923267 - 1580863;6480464 22912744;17353931;15489334;14702039;12477932;12039036;11641609;11418125;10859271;9110174;9092683;8619474;16344560;20010699;22863883;21875946;21900206;21139048 55644 G3V249;G3V282;G3V425;G3V445;G3V4G4;G3V4G5;Q9NPF4 AB047823;AB050442;ABBA01061228;ABBA01061229;ABBA01061230;AF052137;AJ271669;AK000418;AK054823;AK055492;AL355075;AMYH01005588;BC032310;BX428958;CD365329;CH471078;CR457232;DA068526;NM_017807 AAH32310;ABM85732;ABW03728;BAA91150;BAB33147;BAB33172;CAB71031;CAG33513;EAW66469;EAW66470;NP_060277;Q9NPF4 Hs.525196 1678981;1744369;1757161;1771034;1783072 GDB:451907;RH78615;RH79816;SHGC-144588;SHGC-154059 FLJ20411;GCPL1;KAE1;OSGEP1;PRSMG1 OTTHUMP00000028258;OTTHUMP00000244786;hOSGEP;probable O-sialoglycoprotein endopeptidase;probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP;t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP protein-coding ENSG00000092094 18028 10133 610107 VALIDATED 69134 OSM oncostatin M Oncostatin M is a member of a cytokine family that includes leukemia-inhibitory factor, granulocyte colony-stimulating factor, and interleukin 6. This gene encodes a growth regulator which inhibits the proliferation of a number of tumor cell lines. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. [provided by RefSeq, Jul 2008] 22 22 q12.2 28988818 28992840 - 30658818 30662829 - 1580863;6480464;6484113;6907045 21399864;2779549;9920829;1717982;7867561;7508917;8999038;19158344;19158240;19148539;19086053;19019853;18981157;18772145;18637848;18564531;18499891;18398932;18317962;18187666;18028996;17979974;17881458;17761945;17604327;17471233;17372020;17081797;17028186;17009243;16802343;16713283;16369169;15863389;15837947;15831292;15809742;15712220;15489334;15461802;15146412;12707269;12692260;12640208;12531804;12477932;12391243;12218157;12138373;12090757;12061841;12061840;11936950;11839742;11818668;11811789;11777927;11711546;10997905;10591208;10556323;9847074;8422753;8406444;3540948;2325640;2026606;1542794;1542793;1536831;21196532;16051226;19342253;19565514;19652200;19916861;20101226;20149034;20237496;20408777;19913121;20628086;20626292;20650266;20088942;20189410;21399633;20661773;21376322;21832049;21481226;21457934;23313749;21965736;21775705;21975934;21900206;22267310;22051730;22056139;22267707;23128233;22829597;22931588;22982441 5008 B5MC70;B5MCX1;P13725 AB451493;ABBA01055293;AC004264;AF129855;AMYH01012705;BC011589;CH471095;CR456534;CR541703;M27286;M27287;M27288;NM_020530 AAA36388;AAC05173;AAD31435;AAH11589;ABM83463;ABM86674;BAG70307;CAG30420;CAG46504;CAK54565;CAK54864;EAW59864;EAW59865;NP_065391;P13725 Hs.248156 1742273;1742275;1744387;2162955 GDB:194718;GDB:194719;GDB:452636;STS-M27288 MGC20461 OTTHUMP00000198700;oncostatin-M APPROVED protein-coding ENSG00000099985 8506 01300 165095 REVIEWED 1607033 OSGIN1 oxidative stress induced growth inhibitor 1 This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011] 16 16 q23.3 82540173 82557438 + 83986827 83999937 + 6480464 22912861;12374686;17192422;18597759;19578798;20307321;21737788;11459809;18499678;16924236;15569677;15489334;14570898;12477932;8889548;19851296;20198315;21906983 29948 H3BT09;H3BTF9;J3KRK7;Q9UJX0 ABBA01016928;ABBA01016929;AC040169;AF191740;AF334780;AK290383;AMYH01007865;AY037158;AY258066;AY258067;AY258068;BC020434;BC032476;BC093687;BC113417;BM976366;CH471114;HI573984;HI573986;HI573988;NG_029757;NM_182981 AAF06662;AAH32476;AAH93687;AAI13418;AAK01722;AAK67637;AAP14662;AAP14663;AAP14664;ADR83187;BAF83072;CBX47481;CBX47482;CBX47483;EAW95511;EAW95512;NP_892026;Q9UJX0 Hs.128055 1660734;1783364 SHGC-147839;WI-15020 BDGI;OKL38 OTTHUMP00000174992;OTTHUMP00000174993;bone marrow stromal cell-derived growth inhibitor;huOKL38;ovary, kidney and liver protein 38;oxidative stress-induced growth inhibitor 1;pregnancy induced growth inhibitor;pregnancy-induced growth inhibitor OKL38 APPROVED protein-coding ENSG00000140961 30093 06412 607975 REVIEWED 1345615 OSR2 odd-skipped related 2 (Drosophila) OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008] 8 8 8 q22.2 96142339 96150050 + 100025862 100033504 + 99956631 99964328 + 737633;1580863;6480464 12477932 15670784;15489334;15175245;14702039;11520675;20634891;19322201 116039 B4E3B7;E5RGY8;E5RH04;E5RH47;Q8N2R0 ABBA01037546;AC016877;AK074518;AK291491;AK304654;AK310994;AMYH01018919;AY038072;AY038073;BC016936;CH471060;NM_001142462;NM_053001 AAH16936;AAK74066;AAK74067;BAC11035;BAF84180;BAG65429;EAW91784;EAW91785;NP_001135934;NP_443727;Q8N2R0 Hs.253247 FLJ90037 OTTHUMP00000227091;OTTHUMP00000227092;OTTHUMP00000227093;protein odd-skipped-related 2 APPROVED protein-coding ENSG00000164920 15830 17806 611297 VALIDATED 5490457 OSTCP2 oligosaccharyltransferase complex subunit pseudogene 2 1 1 p36.11 27184839 27185418 - 27312388 27312843 - 646567 ABBA01034943;AL356390;AMYH01000415;XM_001722136;XM_003960119;XM_929503 XP_001722188;XP_003960168;XP_934596 oligosaccharyltransferase complex subunit OSTC-like;oligosaccharyltransferase complex subunit pseudogene 2 protein-coding 42864 MODEL 5490503 OSTCP3 oligosaccharyltransferase complex subunit pseudogene 3 19 19 q13.42 58806698 58812321 + 54120058 54120506 + 646557 ABBA01068207;AC011487;AMYH01009962;NG_030060 1654721 D19S1058 pseudo 42865 INFERRED 5490506 OSTCP4 oligosaccharyltransferase complex subunit pseudogene 4 4 4 q25 113823407 113826108 + 113606211 113606656 + 645264 ABBA01063819;AC106864;AMYH01014470;NG_030224 2173771 SHGC-23923 pseudo 42866 INFERRED 6480978 OSTCP5 oligosaccharyltransferase complex subunit pseudogene 5 1 45535652 45536101 - 100874386 ABBA01050893;AL359473;AMYH01000570;NG_032532 pseudo 42867 INFERRED 1314879 OSGIN2 oxidative stress induced growth inhibitor family member 2 8 8 8 q21 87108907 87134906 + 90983269 91009271 + 90914096 90940096 + 6480464 9933573;16341674;15489334;12477932;8889548;21906983;19322201 734 E5RJZ3;Q9Y236 ABBA01037402;AF061326;AF069291;AF117829;AMYH01018873;BC031054;BM764021;BU688773;CH471060;NM_001126111;NM_004337 AAC62231;AAD18134;AAH31054;AAI56590;EAW91657;EAW91658;EAW91659;NP_001119583;NP_004328;Q9Y236 Hs.436445 1687247;1703700;1769905;1849879;2118050;2130663;5093242 A009K07;G32604;RH36135;RH91945;SHGC-31038;SHGC-78860;STS-N33005 C8orf1;hT41 OTTHUMP00000224993;OTTHUMP00000224994;OTTHUMP00000224995;chromosome 8 open reading frame 1;oxidative stress-induced growth inhibitor 2 protein-coding ENSG00000164823 1355 06853 604598 VALIDATED 6480976 OSTCP6 oligosaccharyltransferase complex subunit pseudogene 6 6 56840405 56840861 - 100874387 ABBA01050488;AL590037;AMYH01016369;NG_032533 pseudo 42868 INFERRED 6480984 OSTCP7 oligosaccharyltransferase complex subunit pseudogene 7 17 33332319 33332760 + 100874391 ABBA01011223;AC004223;AMYH01008353;NG_032535 pseudo 42870 INFERRED 6480977 OSTCP8 oligosaccharyltransferase complex subunit pseudogene 8 9 33968075 33968515 - 100874388 ABBA01065033;AL139113;AMYH01019329;NG_032534 pseudo 42869 INFERRED 1348431 OSTF1P1 osteoclast stimulating factor 1 pseudogene 1 12 12 12 q24.1-q24.2 114653450 114654198 + 113510139 113511089 + 115025856 115026604 + 386654 ABBA01019975;AC069240;AMYH01004767;NG_003109 OSTF1P APPROVED pseudo 31439 INFERRED 1352311 OSMR oncostatin M receptor This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] 5 5 p13.1 38881893 38970159 + 38845960 38935743 + 1580863;6480464;6907045;7240710 8999038;19223499;19158344;18641356;18430728;18179886;17028186;15831292;15489334;15184896;12477932;12061840;11786531;11706938;11602599;10997905;10586060;9662460;9617575;9188471;11821958;21145461;21508378;15342556;19375894;19466957;19662090;19690585;19834535;20205591;20424473;20628624;20507362;21394648;22062952;21952923;22137028;21900206;21139048;21890473;21906983;21963094;23000965;23251661;22829597 9180 H0Y8W9;H0Y9E3;H0YAD1;Q99650 ABBA01024203;ABBA01024204;AC026713;AI417125;AK304016;AMYH01015041;AMYH01015042;AMYH01015043;BC010943;BC063468;BC125209;BC125210;BP352496;BU619548;CA439576;CB265977;CH471119;CS398420;CS399454;CS401263;CS720092;DR006275;FB507084;GM989506;GN088764;HC731059;HH829739;NG_016236;NM_001168355;NM_003999;U60805 AAC50946;AAH10943;AAH63468;AAI25210;AAI25211;BAG64931;CAL44879;CAL44943;CAL44954;CAP40197;CAV32861;CAX21680;CAX87006;CBL94055;CBX32719;EAW55976;EAW55977;NP_001161827;NP_003990;Q99650 Hs.120658;Hs.658389 1717243;1796436;1853359;2119307;5015861;5023329;7185938 D10S16;D5S2638;GDB:314481;OSMR_218;RH122036;RH15616 MGC150626;MGC150627;MGC75127;OSMRB;PLCA1 IL-31 receptor subunit beta;IL-31R subunit beta;IL-31R-beta;IL-31RB;OTTHUMP00000116027;OTTHUMP00000221132;interleukin-31 receptor subunit beta;oncostatin-M specific receptor beta subunit;oncostatin-M-specific receptor subunit beta APPROVED protein-coding ENSG00000145623 8507 03446 105250;601743 REVIEWED 1604506 OSTCP1 oligosaccharyltransferase complex subunit pseudogene 1 6 6 6 q25.3 159910021 159926537 - 159182137 159198654 - 159262149 159278664 - 6480464 12477932;17207965;21832049 202459 Q8TBU1 ABBA01021078;AL589931;AL627422;AMYH01016794;BC024224;CH236958;NR_028496 AAH24224;ADQ32254 Hs.487035 DC2L;OSTCL APPROVED pseudo ENSG00000243775 30530 14130 VALIDATED 1605876 OSR1 odd-skipped related 1 (Drosophila) 2 2 2 p24.1 19413711 19420835 - 19414727 19421853 - 19551246 19558372 - 6480464 18978678;16381901;15815621;15761153;15489336;15489334;14702039;12477932;12119563;11256614;11076863;2120051;15084514;12205091;16511565;18029348;20800603;21321328;21821672;21906983 130497 Q8TAX0 AB082568;ABBA01018493;AC018741;AI391506;AK074591;AK122756;AMYH01010148;BC025712;CH471053;CQ782558;DQ021502;NM_145260 AAH25712;AAY14760;AAY26397;BAB92079;BAC11079;BAG53709;CAF85834;CAL38246;EAX00846;EAX00847;EAX00848;NP_660303;Q8TAX0 Hs.123933 ODD OTTHUMP00000112434;odd-skipped homolog;protein odd-skipped-related 1 protein-coding ENSG00000143867 8111 16401 608891 VALIDATED 3418321 OST4 oligosaccharyltransferase 4 homolog (S. cerevisiae) 2 2 2 p23.3 27139684 27140911 - 27146844 27148587 - 27293340 27294567 - 6480464 21609714;12477932;16317064;19913121;20628086 100128731 P0C6T2 AA772256;ABBA01045192;AC013403;AL049447;AMYH01010194;BC105283;BF697310;NM_001134693 NP_001128165;P0C6T2 Hs.502948 DKFZp586A0722 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 protein-coding ENSG00000228474 32483 VALIDATED 1344284 OTOF otoferlin Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p23.1 26533575 26635070 - 26680071 26781566 - 1580863;6480464;7240710 10192385;19250381;19004828;18381613;17055430;16371502;14635104;12525542;12469219;12127154;12114484;10903124;10878664;10843812;8789454;8593615;14563843;18035737;20211493;19461658;19636622;20224275;20230791;20504331;22906306;22575033;21935370;22959777;20301429;20301607;22699663;23319000 9381 H7BZJ5;Q9HC10 ABBA01045182;ABBA01045183;ABBA01045184;AC093378;AC108070;AF107403;AF183185;AF183186;AF183187;AK296272;AMYH01010192;CH471053;EU436745;EU436746;NG_009937;NM_004802;NM_194248;NM_194322;NM_194323 AAD26117;AAG12991;AAG12992;AAG17468;AAI56052;AAI56939;AAY15083;ACC68677;ACC68678;BAG58982;EAX00682;EAX00683;EAX00684;EAX00685;EAX00686;EAX00687;NP_004793;NP_919224;NP_919303;NP_919304;Q9HC10 Hs.91608 1336205;1647945;1659391;1764743;1766117;2110631 D2S2350;OTOF_8929;RH12053;SHGC-14574;SHGC-148325;SHGC-149500 AUNB1;DFNB6;DFNB9;FER1L2;NSRD9 OTTHUMP00000122453;OTTHUMP00000122454;OTTHUMP00000122455;OTTHUMP00000200815;OTTHUMP00000200816;fer-1-like protein 2;otoferlin;otoferlin transcript variant 46-48 APPROVED protein-coding ENSG00000115155 8515 04727 601071;603681 REVIEWED 1607011 OSTC oligosaccharyltransferase complex subunit (non-catalytic) 4 4 4 q25 106866726 106884005 + 109791190 109808429 + 109571741 109588978 + 6480464 15835887;12477932;20332099;21139048;21906983;15146197;16712791;22645275 58505 Q9NRP0 ABBA01063766;AC107071;AF068297;AF161425;AF201937;AF343342;AK312185;AMYH01014454;AW081061;AX013128;BC016321;BC054857;BM471860;BM541430;BM546028;BM994257;BQ435510;CB110420;CD369095;CH471057;CN430159;CS488901;NM_001267817;NM_001267818;NM_021227 AAF28985;AAF65186;AAF86873;AAH16321;AAH54857;AAK69656;ABM84148;ABM87550;BAG35118;CAM55975;EAX06233;EAX06234;NP_001254746;NP_001254747;NP_067050;Q9NRP0 Hs.445803 DC2 OTTHUMP00000219604;OTTHUMP00000219605;hydrophobic protein HSF-28;oligosaccharyltransferase complex subunit OSTC APPROVED protein-coding ENSG00000198856 24448 13120 VALIDATED 1315323 OTOG otogelin The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. [provided by RefSeq, Mar 2013] 11 11 11 p15.1 17698900 17797429 + 17525496 17624067 + 17568920 17667491 + 6480464 10337628;9405633;10655058;23122587;23314748;16344560 340990 C9IZ84;H9KVB3;Q6ZRI0 ABBA01061062;ABBA01061063;AC124799;AK128214;AMYH01003416;CH471064;DB081210;DV080216;DV080241;DV080242;DV080384;DV080398;DV080434;EG328175;EG328176;NG_033191;NM_001277269;XM_001717531;XM_003960485;XM_291816 BAC87330;EAW68430;NP_001264198;Q6ZRI0;XP_001717583;XP_003960534;XP_291816 Hs.688380 1737161;1737979;1739515;1851868;2134868;5037443 D11S1032;D11S1122;D11S3021;D11S3582;D11S4043;D11S4199 DFNB18B;FLJ46346;OTGN;mlemp OTTHUMP00000195075;OTTHUMP00000195076;otogelin protein-coding ENSG00000188162 8516 604487;614945 REVIEWED 4140314 OTOL1 otolin 1 3 3 3 q26.1 159636912 159644046 + 162697290 162704424 + 161214596 161221730 + 11181995;15905077;16641997;17544811;20966902;21782286 131149 A6NHN0 ABBA01058787;AC104471;AMYH01013616;CH471052;NM_001080440 A6NHN0;EAW78611;NP_001073909 Hs.585021 C1QTNF15 C1q and tumor necrosis factor related protein 15;OTTHUMP00000214013;otolin 1 homolog;otolin-1 APPROVED protein-coding ENSG00000182447 34071 PROVISIONAL 1342782 OSTN osteocrin 3 3 3 q28 189359164 189396700 + 192413016 192450604 + 190930322 190967910 + 1304017;6480464 14523025 17951249;19453261;17950246;15044443;12477932 344901 C9JER6;P61366 ABBA01058318;ABBA01058319;AC126567;AMYH01013760;AMYH01013761;AY398681;AY573933;BC128106;BC128107;CH471052;NM_198184 AAI28107;AAI28108;AAQ94966;AAS87599;EAW78095;NP_937827;P61366 Hs.526794 MUSCLIN OTTHUMP00000209347;osteocrin protein-coding ENSG00000188729 29961 17809 610280 PROVISIONAL 1312497 OTOP2 otopetrin 2 17 17 17 q25.1 69513596 69523231 + 70431965 70441235 + 72920370 72930006 + 633435;6480464 12651873 92736 Q7RTS6 ABBA01028821;ABBA01028822;AC068874;AC087651;AK000063;AMYH01008629;BK000567;CH471099;NG_033062;NM_178160 AAI48347;AAI52987;DAA00895;EAW89213;NP_835454;Q7RTS6 Hs.352515 1708192 SHGC-79351 otopetrin-2 protein-coding ENSG00000183034 19657 07614 607827 VALIDATED 1345018 OSTM1 osteopetrosis associated transmembrane protein 1 This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008] 6 6 q21 108469306 108502634 - 108362613 108395941 - 6480464;7240710 19453261;18978678;18296023;17985267;17922613;16303743;15489334;15177004;15108279;14702039;12975309;12826607;12627228;12477932;12079282;11042152;19322201;16525474;19507210;21527911;22990118;21963094;21987572;21906983;22505724 28962 E5RFY7;Q86WC4 AA428166;ABBA01026157;AF077205;AF533891;AJ420489;AJ420572;AK075012;AK129854;AK314393;AMYH01016575;AV715475;AY358795;BC010845;BC016376;BC059412;BC068581;BE218267;BI668275;BK000461;BQ716123;CH471051;NG_007262;NM_014028;Z98200 AAD27000;AAH68581;AAO72749;AAQ89155;BAC11351;DAA00039;EAW48389;EAW48390;EAW48391;NP_054747;Q86WC4 Hs.226780;Hs.706947;Hs.745455 1668176;1671488;1800480;1801896;1804812;1807324;1813582;1814594;1817190;1817718;1818202;1818342;1818850;1822768;1824142;1827018;1829104;1832190;1832372;1833010;1833896;1834084;1834854;1835180;1835828;1835830;1836116;1837168;1837326;1840296;1842436;1844072;1844420;1846220;1956644;1956646;1956648;1956650;1956652;1956654;1956656;1956658;1956660;1956662;1956664;1956666;1956668;1956670;1956672;1956674;1956676;1956678;1956680;1956682;1956684;1956686;1956688;1956690;1956692;1956694;1956696;1956698;1956700;1956702;1956704;1956706;1956708;1956710;1956712;1956714;1956716;1956718;1956720;1956722;1956724;1956726;1956728;1956730;1956732;1956734;1956736;1956738;1956740;1956742;1956744;1956746;1956748;1956750;1956752;1956754;1956756;1956758;1956760;1956762;1956764;1956766;1956768;1956770;1956772;1956774;1956776;1956778;1956780;1956782;1956784;1956786;1956788;1956790;1956792;1956794;1956796;1956798;1956800;1956802;1956804;1956806;1956808;1956810;1956812;1956814;1956816;1956818;1956820;1956822;1956824;1956826;1956828;1956830;1956832;1956834;1956836;1956838;1956840;1956842;1956844;1956846;1956848;1956850;1956852;1956854;1956856;1956858;1956860;1956862;1956864;1956866;1956868;1956870;1956872;1956874;1956876;1956878;1956880;1956882;1956884;1956886;1956888;1956890;1956892;1956894;1956896;1956898;1956900;1956902;1956904;1956906;1956908;1956910;1956912;1956914;1956916;1956918;1956920;1956922;1956924;1956926;1956928;1956930;1956932;1956934;1956936;1956938;1956940;1956942;1956944;2164702;2167859;2184761;2212716;2212718;2212720;2212722;2212724;2212726;2212728;2212730;2212732;2212734;2212736;2212738;2212740;2212742;2212744;2212746;2212748;2212750;2212752;2212754;2212756;2212758;2212760;2212762;2212764;2212766;2212768;2219418 D6S1113E;ECD01100;ECD01829;ECD03339;ECD04633;ECD07814;ECD08327;ECD09645;ECD09912;ECD10158;ECD10228;ECD10489;ECD12472;ECD13167;ECD14624;ECD15679;ECD17233;ECD17325;ECD17646;ECD18094;ECD18190;ECD18576;ECD18745;ECD19075;ECD19076;ECD19219;ECD19750;ECD19830;ECD21333;ECD22421;ECD23249;ECD23424;ECD24330;OSTM1__5795;REN49189;REN49190;REN49191;REN49192;REN49193;REN49194;REN49195;REN49196;REN49197;REN49198;REN49199;REN49200;REN49201;REN49202;REN49203;REN49204;REN49205;REN49206;REN49207;REN49208;REN49209;REN49210;REN49211;REN49212;REN49213;REN49214;REN49215;REN49216;REN49217;REN49218;REN49219;REN49220;REN49221;REN49222;REN49223;REN49224;REN49225;REN49226;REN49227;REN49228;REN49229;REN49230;REN49231;REN49232;REN49233;REN49234;REN49235;REN49236;REN49237;REN49238;REN49239;REN49240;REN49241;REN49242;REN49243;REN49244;REN49245;REN49246;REN49247;REN49248;REN49249;REN49250;REN49251;REN49252;REN49253;REN49254;REN49255;REN49256;REN49257;REN49258;REN49259;REN49260;REN49261;REN49262;REN49263;REN49264;REN49265;REN49266;REN49267;REN49268;REN49269;REN49270;REN49271;REN49272;REN49273;REN49274;REN49275;REN49276;REN49277;REN49278;REN49279;REN49280;REN49281;REN49282;REN49283;REN49284;REN49285;REN49286;REN49287;REN49288;REN49289;REN49290;REN49291;REN49292;REN49293;REN49294;REN49295;REN49296;REN49297;REN49298;REN49299;REN49300;REN49301;REN49302;REN49303;REN49304;REN49305;REN49306;REN49307;REN49308;REN49309;REN49310;REN49311;REN49312;REN49313;REN49314;REN49315;REN49316;REN49317;REN49318;REN49319;REN49320;REN49321;REN49322;REN49323;REN49324;REN49325;REN49326;REN49327;REN49328;REN49329;REN49330;REN49331;REN49332;REN49333;REN49334;REN49335;REN49336;REN49337;REN49338;REN49339;RH47843;RH48152;STS-H01923;WIAF-2219;stSG634077;stSG634078;stSG634079;stSG634080;stSG634081;stSG634082;stSG634083;stSG634084;stSG634085;stSG634086;stSG634087;stSG634088;stSG634089;stSG634090;stSG634091;stSG634092;stSG634093;stSG634094;stSG634095;stSG634096;stSG634097;stSG634098;stSG634099;stSG634100;stSG634102;stSG634103;stSG634104 GIPN;GL;HSPC019;OPTB5 GAIP-interacting protein N terminus;OTTHUMP00000016938;OTTHUMP00000196342;chloride channel 7 beta subunit;grey-lethal osteopetrosis;osteopetrosis-associated transmembrane protein 1 APPROVED protein-coding ENSG00000081087 21652 09628 259720;607649 REVIEWED 1348640 OTOA otoancorin The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 16 16 16 p12.2 21371583 21424019 + 21597336 21679551 + 21689835 21772050 + 1580863;6480464;7240710 19888295;19088187;14702039;12477932;11972037;20379614;20301607 146183 Q05BM7;Q7RTW8 ABBA01008649;ABBA01008650;AC092719;AK093062;AK125840;AK302733;AMYH01007355;BC038458;BC040551;BC129992;BC129993;BK000099;CH878403;NG_012973;NM_001161683;NM_144672;NM_170664 AAH38458;AAI29993;AAI29994;BAC04040;BAG54255;BAG63950;DAA00022;EAW50524;EAW50525;NP_001155155;NP_653273;NP_733764;Q7RTW8 Hs.408336 1718093;1729540;1738509;1757113;2123219;5037552 D16S2697;D16S293;D16S2993;D8S2279;G57755;SHGC-144498 CT108;DFNB22;FLJ32773;MGC157747;MGC39813 OTTHUMP00000115896;OTTHUMP00000115897;cancer/testis antigen 108;otoancorin APPROVED protein-coding ENSG00000155719 16378 06126 607038;607039 REVIEWED 733236 OSTF1 osteoclast stimulating factor 1 Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008] 9 9 q13-q21.2 76893279 76951583 + 77703398 77762114 + 1580863;6480464 17353931;10092216;19137598;17081983;16946461;16508112;15489334;15342556;15164053;15135048;12477932;11551898;10773673;9630982;8125298;17207965;19453261;19807924;20424473;21832049;22939629;21501342;21900206;21139048;21890473;19322201;22745667;22505724 26578 Q92882 ABBA01033893;AK222596;AK291511;AL133548;AMYH01021417;AMYH01021418;BC007459;BP312980;CH471089;NM_012383;U63717 AAB06396;AAH07459;ADQ32843;BAD96316;BAF84200;EAW62570;EAW62571;EAW62572;EAW62573;NP_036515;Q92882 Hs.494192 1646277;1687952;2131021 RH16319;RH93283;SGC35040 FLJ20559;OSF;SH3P2;bA235O14.1 OTTHUMP00000021492;osteoclast-stimulating factor 1 APPROVED protein-coding ENSG00000134996 8510 17808 610180 VALIDATED 1603526 OTOGL otogelin-like The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012] 12 12 12 q21.31 80269632 80438532 + 79126114 79297001 + 80603233 80772870 + 14702039;12477932;20379614;23122586 283310 E2QRK2;H0YIF7;H0YIL4;H7BXL6;Q3ZCN5 ABBA01053497;ABBA01053498;AC078817;AC083812;AC092945;AK075060;AK096852;AMYH01004610;AMYH01004611;BC101016;BC101017;BC101018;CH471054;NG_033008;NM_173591 AAI01018;AAI01019;BAC04877;BAC11376;EAW97362;EAW97363;NP_775862;Q3ZCN5 Hs.723594 1708886;2131075 D12S1038;SHGC-83950 C12orf64;DFNB84B;FLJ90579;MGC119410 OTTHUMP00000242943;chromosome 12 open reading frame 64;otogelin-like;otogelin-like protein APPROVED protein-coding ENSG00000165899 26901 08815 614925;614944 REVIEWED 1353064 OTSC1 otosclerosis 1 7240710 9425236 5012 1335591;1340735;7185028 D15S1004;D15S130;D15S652 8519 1344786 OTSC2 otosclerosis 2 7240710 11170898 93999 1339157;7184416 D7S2426;D7S495 8520 1345913 OTSC3 otosclerosis 3 7240710 12114476 170532 1336886 D6S1680 17831 735811 OTOP1 otopetrin 1 4 4 4 p16.3 4088176 4126241 - 4241431 4279522 - 4190530 4228621 - 633435;6480464 12651873 12477932 133060 Q7RTM1 ABBA01008244;AC011744;AMYH01013900;BC130430;BC130432;BK000653;BK000654;CH471131;NM_177998 AAI30431;AAI30433;DAA00901;DAA00902;EAW82445;EAW82446;NP_819056;Q7RTM1 Hs.534544 2148424 G01775 MGC163302;MGC163304 OTTHUMP00000115348;otopetrin-1 protein-coding ENSG00000163982 19656 07421 607806 PROVISIONAL 1348662 OTSC4 otosclerosis 4 7240710 286751 19981 1343945 OTSC6 otosclerosis 6 319090 20375 1352878 OTSC5 otosclerosis 5 7240710 15173231 317682 20238 1346516 OTSC7 otosclerosis 7 7240710 399516 31084 732939 OTC ornithine carbamoyltransferase This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] X X p21.1 38096680 38165647 + 38211736 38280703 + 1601074;1582379;1300048;1600998;1600999;1580863;2300098;4143230;4144085;4144077;2303519;1643525;4144078;4144079;4144123;4144066;70249;4144059;4144061;4144071;4144069;4144080;4144087;4144083;6480464;6907045;7240710 17262046;3680220;8956038;11793468;4062872;15916970;2471197;8929856;8821709;17224795;7773204;7827141;9628242;11768581;11779202;19101528;18823438;9472964;10353541;7865721;1330956;1499453 2037279;8530002;8364586;8099056;8081398;8081373;8019569;7951259;7860066;7860064;7627182;7474905;7085676;6942417;6494904;6169723;3943133;3895227;8807340;8544185;3891325;3782067;3170748;2983225;2843770;2836378;2741942;2722850;2556444;2474822;2347583;2208768;6372096;19359120;19138872;18983895;18204299;18030415;17893704;17570354;17570074;17041896;16786505;15772651;15692798;15489334;15300856;12618087;12516615;12477932;12083811;11793483;11260212;10813810;10737985;10565370;10502831;10405441;10070627;9852088;9756929;9286441;9266388;9143919;9065786;9056557;8956045;8863155;8830175;2035531;1757964;1721894;1671317;1627356;1602151;1480464;1353535;18029348;19475717;19574962;19893582;16712791;20127982;20817516;21956151;19748344 5009 P00480 ABBA01047023;ABBA01047024;ABBA01047025;ABBA01047026;ABBA01047027;ABBA01047028;ABBA01047029;ABBA01047030;ABBA01047031;ABBA01047032;ABBA01047033;AF241726;AI247721;AK292757;AL606748;AL607040;AMYH01022211;BC074745;BC107153;BC107154;BC114496;BX118743;BX494966;CB158478;CH471141;D00095;D00230;K02100;M11235;NG_008471;NM_000531;S73640;X04443 AAA59975;AAA59976;AAB31859;AAH74745;AAI07154;AAI07155;AAI14497;BAA00058;BAA00161;BAF85446;CAA28039;EAW59439;EAW59440;NP_000522;P00480 Hs.117050 1698826;1702848;1729433;1741033;1741173;1742041;1744261;1744263;1744265;1744267;1744269;1744271;2128430;2163850;5015768;5017892;5117324;5119603;5126668 DXS8327;DXS9851;GDB:177412;GDB:177413;GDB:177425;GDB:178410;GDB:190001;GDB:439377;GDB:439383;GDB:439386;GDB:439389;GDB:439392;GDB:439398;GDB:439401;GDB:511285;OTC;RH102977;RH68978;SHGC-6137 MGC129967;MGC129968;MGC138856;OCTD OTCase;OTTHUMP00000024343;ornithine carbamoyltransferase, mitochondrial;ornithine transcarbamylase APPROVED protein-coding ENSG00000036473 8512 02408;08947 300461;311250 REVIEWED 1315404 OTOP3 otopetrin 3 17 17 17 q25.1 69525122 69538736 + 70443492 70457106 + 72931897 72945511 + 633435;6480464 12651873 12477932;21697133 347741 J3QS90;Q7RTS5 AB593153;ABBA01028821;AC087651;AMYH01008629;BC143799;BK000568;CH471099;NM_001272005;NM_178233 AAI40367;DAA00896;EAW89214;EAW89215;EAW89216;NP_001258934;NP_839947;Q7RTS5 Hs.454407 otopetrin-3 protein-coding 19658 09700 607828 VALIDATED 1344729 OTUD1 OTU domain containing 1 Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] 10 10 10 p12.2 23416596 23419451 + 23767592 23771316 + 23728198 23731310 + 6480464 17991829;15164054;14702039;10664582;19615732;21139048 220213 Q5VV17 AB188491;ABBA01034464;AI261652;AK096389;AL512603;AMYH01002188;NM_001145373 NP_001138845;Q5VV17 Hs.499042 1676634 RH94364 DUBA7;OTDC1 DUBA-7;OTTHUMP00000019312;OTU domain-containing protein 1 APPROVED protein-coding ENSG00000165312 27346 612022 VALIDATED 1345021 OTP orthopedia homeobox This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008] 5 5 5 q13.3 72812592 72829177 - 76960293 76970278 - 76924537 76934522 - 6480464 12477932;10458915;22366991 23440 Q5XKR4 ABBA01061981;ABBA01061982;ABBA01061983;AC108173;AMYH01015428;BC001800;CH471084;NM_032109 AAH01800;ABZ92225;EAW95809;NP_115485;Q5XKR4 Hs.202247 1683473;1697658 RH102344;RH98803 MGC3161 OTTHUMP00000128364;homeobox protein orthopedia;orthopedia homolog;orthopedia homolog (drosophila) APPROVED protein-coding 8518 05166 604529 REVIEWED 1313174 OTOR otoraplin This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013] 20 20 20 p12.1-p11.23 16804076 16807889 + 16677003 16680809 + 16729003 16732809 + 1580863;6480464 11780052;7829101;10873378;15489334;15340161;12975309;12477932;11161796;10998416;20800603 56914 Q9NRC9 ABBA01054016;AF233261;AF243505;AJ242552;AJ252324;AL034428;AMYH01011736;AY359082;BC101688;BC101690;BI495573;CH471133;NM_020157 AAF82078;AAG42356;AAI01689;AAI01691;AAQ89441;CAC27443;CAC28085;EAX10282;EAX10283;NP_064542;Q9NRC9 Hs.41119 1854401;2146952 WI-16363;WI-16380 FDP;MGC126737;MGC126739;MIAL;MIAL1 OTTHUMP00000030323;fibrocyte-derived protein;melanoma inhibitory activity-like protein;otoraplin APPROVED protein-coding ENSG00000125879 8517 07300 606067 REVIEWED 1349689 OTOS otospiralin Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008] 2 2 2 q37.3 234751484 234753111 - 240727119 240728746 - 241078446 241080073 - 6480464 15815621;15489334;12687421;12477932;11880501 150677 Q8NHW6 ABBA01048859;AC013469;AI201810;AMYH01011617;AY062256;BC105085;BC105087;BX118794;CH471063;NM_148961 AAI05086;AAI05088;AAL47489;AAY14739;EAW71179;NP_683764;Q8NHW6 Hs.148586 5493301 UniSTS:485639 OTOSP OTTHUMP00000164499;otospiralin APPROVED protein-coding ENSG00000178602 22644 09714 607877 VALIDATED 1604042 OTUD3 OTU domain containing 3 1 1 1 p36.13 18535727 18566275 + 20081475 20112025 + 20208888 20239438 + 6480464 16710414;12477932;11181995;9455484;20228799;19122664;19915572;20228798;21139048;23511034 23252 Q0VDK5;Q5T2D3 AA829387;AB007928;ABBA01059770;AL358253;AL391883;AMYH01000317;BC119636;BC134416;CH471134;CV573628;NM_015207 AAI19637;AAI34417;BAA32304;EAW94905;NP_056022;Q5T2D3 Hs.374987 1648959;1725265;5015861;5037552;7185938 D10S16;D8S2279;RH119352;SGC32455 DUBA4;KIAA0459;RP11-460G22.1 OTTHUMP00000002782;OTU domain-containing protein 3 protein-coding ENSG00000169914 29038 611758 VALIDATED 1315448 OTUB2 OTU domain, ubiquitin aldehyde binding 2 This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011] 14 14 14 q32.12 74546470 74569021 + 93562477 93585029 + 94492724 94515276 + 6480464 12704427;16189514;15489334;15258613;15014966;14702039;12508121;12477932;18954305;19615732;19996094;17207965;23105109;21832049;20725033;22118674;21139048;21890473;21906983;22626734 78990 Q96DC9;Q9BWI9 ABBA01030423;AF318378;AI018242;AK025569;AL079302;AMYH01005968;AY177201;BC000208;BC009615;BC068058;BG423958;CH471061;CR457345;NM_023112 AAH00208;AAH09615;AAH68058;AAL55885;AAO27703;ADQ32027;BAB15172;CAG33626;EAW81548;EAW81549;NP_075601;Q96DC9 Hs.278815 2127589;2132712;2172988;5037746 D14S698E;D1S3696;RH64848;WIAF-1600 C14orf137;FLJ21916;MGC3102;OTB2;OTU2 OTTHUMP00000245762;OTU domain-containing ubiquitin aldehyde-binding protein 2;deubiquitinating enzyme OTUB2;otubain-2;ubiquitin thioesterase OTUB2;ubiquitin-specific protease otubain 2;ubiquitin-specific-processing protease OTUB2 APPROVED protein-coding ENSG00000089723 20351 07620 608338 VALIDATED 1605871 OTUD6A OTU domain containing 6A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] X X X q13.1 69635707 69637395 + 69199066 69200754 + 69282341 69284029 + 14702039;12477932 139562 Q7L8S5 ABBA01067526;AK098697;AL158141;AMYH01022522;BC137355;BC137356;CH471132;NM_207320 AAI37356;AAI37357;BAC05384;EAX05357;NP_997203;Q7L8S5 Hs.447381 5015961;5109281 D15S1477;D1S1425 DUBA2;FLJ25831;HSHIN6 DUBA-2;HIN-6 protease;OTTHUMP00000217295;OTU domain-containing protein 6A APPROVED protein-coding ENSG00000189401 32312 13681 300714 PROVISIONAL 1322723 OTUB1 OTU domain, ubiquitin aldehyde binding 1 The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 11 11 q13.1 63509901 63522468 + 63753325 63765892 + 6480464 19383985;19211026;18954305;16364312;15489334;15231748;14702039;14661020;12704427;12477932;12401499;11042152;10664582;8125298;19615732;19996094;20553488;20725033;22325355;22990118;22367539;22939629;16196087;18781797;19549727;19850743;20639865;21900206;21987572;22118674;22124327;20622874;21139048;21890473;21906983;22679021;19805454;21963094;23000965;23105109;23287719;23524849;23562397;22053931;22505724;22626734 55611 B3KUV5;F5GYJ8;F5GYN4;F5H3F0;F5H4F3;F5H6Q1;J3KR44;Q96FW1 ABBA01003282;ABBA01003283;ABBA01003284;AF161381;AK000120;AK091830;AK098029;AK225133;AK298287;AK303228;AK307413;AL096714;AMYH01003699;AP000721;AY177200;BC007519;BC010368;BC107701;CH471076;CK906312;CQ834180;NM_017670;NR_003089 AAF28941;AAH07519;AAH10368;AAI07702;AAO27702;BAA90956;BAG53567;BAG60547;BAG64315;CAH05305;CAH56412;EAW74187;EAW74188;EAW74189;EAW74190;EAW74191;NP_060140;Q96FW1 Hs.473788 1698790;1748513;2164660;5014051;5015619;5015861;5016478;5017170;5021872;5022578;5022651;5037552;5109281;7185938 D10S16;D11S2921;D11S3114;D1S1423;D1S1425;D8S2278;D8S2279;GDB:434012;L29953;RH102958;RH78815;SHGC-30562;sY3084 FLJ20113;FLJ40710;HSPC263;MGC111158;MGC4584;OTB1;OTU1 OTTHUMP00000236859;OTTHUMP00000236860;OTTHUMP00000236862;OTTHUMP00000236863;OTTHUMP00000237236;OTU domain-containing ubiquitin aldehyde-binding protein 1;OTU-domain Ubal-binding 1;deubiquitinating enzyme OTUB1;hOTU1;otubain-1;ubiquitin thioesterase OTUB1;ubiquitin-specific protease otubain 1;ubiquitin-specific-processing protease OTUB1 APPROVED protein-coding 23077 08493 608337 REVIEWED 1602119 OTUD6B OTU domain containing 6B Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA5 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] 8 8 8 q21.3 88277450 88294349 + 92151600 92168499 + 92082424 92099323 + 6480464 21267069;21110914;16344560;15489334;12477932;10810093;19615732;22863883;22939629;22118674;20972266;21139048;19322201;22944692 51633 H0YB21;Q8N6M0 AA748163;ABBA01037416;AC087439;AF151836;AK291646;AK293843;AK310823;AL137441;AMYH01018875;BC029760;BI712470;BX647772;CH471060;DA034027;NM_016023 AAD34073;AAH29760;BAF84335;BAG57241;CAB70738;EAW91675;EAW91676;NP_057107;Q8N6M0 Hs.30532 1688877;1735746;2149712 D8S1360E;RH93935;SHGC-35860 CGI-77;DUBA5 DUBA-5;OTTHUMP00000198453;OTU domain-containing protein 6B APPROVED protein-coding ENSG00000155100 24281 13041 612021 VALIDATED 1603307 OTUD4 OTU domain containing 4 Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010] 4 4 4 q31.21 143382143 143428339 - 146274252 146320282 - 146054802 146100832 - 6480464 17353931;17081983;16964243;16344560;15592455;15489334;15302935;15144186;14702039;12477932;10470851;8889548;1475186;19615732;19167051;21139048;21906983;22118674;22318606;23182705;23000965;23656588;22952844 54726 D6RA27;D6RI06;G3V0I6;Q01804 AB028969;ABBA01070024;ABBA01070025;AC096757;AK056597;AK302581;AL137460;AMYH01014592;AU139986;BC020682;BC057242;BC118572;BC118653;BM471766;CA313890;CH471056;DB446926;DQ427109;NM_001102653;NM_017493;X68242 AAH20682;AAH57242;AAI18573;AAI18654;ABD72605;BAA82998;BAB71229;BAG63836;CAA48313;CAB70748;EAX05042;EAX05043;EAX05044;EAX05045;EAX05046;EAX05047;EAX05048;NP_001096123;NP_059963;Q01804 Hs.270851 1666024;1668604;1670968;1849463;2109403;2170032 D4S2498E;D4S2813;HSHIN1_9812;SHGC-34890;SHGC-50260;WI-12349 DKFZp434I0721;DUBA6;HIN1;HSHIN1;KIAA1046 HIV-1 induced protein HIN-1;HIV-1-induced protein HIN-1;OTTHUMP00000220308;OTTHUMP00000220309;OTTHUMP00000220310;OTTHUMP00000220423;OTTHUMP00000222760;OTU domain-containing protein 4 APPROVED protein-coding ENSG00000164164 24949 11033 611744 REVIEWED 6482153 OTX2P1 orthodenticle homeobox 2 pseudogene 1 9 q21 78339087 78339727 - 100033409 ABBA01033896;AL157883;AMYH01021421;NG_032194 OTX2P pseudo 33281 INFERRED 1351552 OTUD7A OTU domain containing 7A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. OTUD7A belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008] 15 15 15 q13.3 9500530 9586701 - 29562621 29734834 - 31775329 31947542 - 6480464 15489334;12477932;20400778;21139048 161725 H0YMI7;H0YN66;Q8TE49 ABBA01038335;ABBA01038336;ABBA01038337;AC021316;AC104266;AC104759;AJ430383;AK126002;AK308630;AMYH01006503;BC035668;CH471216;CQ772591;NM_130901 AAH35668;AAI72582;CAD23047;CAF33875;EAW61269;EAW61270;EAW61271;EAW61272;EAW61273;NP_570971;Q8TE49 Hs.355236 1658031;2178152 RH77828;SHGC-33431 C15orf16;C16ORF15;CEZANNE2;OTUD7 OTTHUMP00000159599;OTU domain-containing protein 7A;cezanne 2;chromosome 15 open reading frame 16;zinc finger protein Cezanne 2 APPROVED protein-coding ENSG00000169918 20718 12666 612024 PROVISIONAL 1343843 OVCH1 ovochymase 1 12 12 12 p11.22 34725854 34795972 - 29471756 29541886 - 29580489 29650619 - 1580863 12838346;16541075 341350 H0YGY6;H0YH00;Q7RTY7 ABBA01068076;ABBA01068077;AC012151;AMYH01004358;BN000128;CH471094;NM_183378 AAI52895;AAI56870;CAD67579;EAW96595;EAW96596;NP_899234;Q7RTY7 Hs.674588 1336346;1722917;1725973;1726139;1726145;1746551 D12S1631;G60555;G62263;G62264;G62393;G64653 OVCH OTTHUMP00000236701;ovochymase-1 protein-coding ENSG00000187950 23080 07138 INFERRED 7244714 OVCH1-AS1 OVCH1 antisense RNA 1 10737800 101055625 AA910547;ABBA01068074;ABBA01068075;ABBA01068076;ABBA01068077;AC009318;AC012151;AMYH01004357;AMYH01004358;AW104191;BF082128;BQ058205;BX119718;CA307018;HY017985;NR_073170;NR_073171;NR_073172 Hs.569158;Hs.622902 miscrna ENSG00000257599 44484 VALIDATED 1344116 OVD1A 2-oxoisovalerate dehydrogenase (lipoamide) 5014 8523 1602408 OVCH2 ovochymase 2 (gene/pseudogene) 11 11 11 p15.4 7828110 7843289 - 7669020 7684517 - 7710669 7727941 - 6480464 16554811;12838346;19557197 341277 Q7RTZ1 ABBA01028682;AC104237;AMYH01003370;AW271430;BN000120;CH471064;NM_198185 AAI60173;CAD66452;EAW68647;NP_937828;Q7RTZ1 Hs.532475 OVTN OTTHUMP00000235285;oviductin protease;ovochymase-2 APPROVED protein-coding ENSG00000183378 29970 07139 VALIDATED 1604609 OTUD5 OTU domain containing 5 This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008] X X X p11.23 52847869 52884227 + 48664432 48699837 - 48779301 48815648 - 6480464;6907045 17991829;16368877;16344560;16341674;15489334;15302935;15146197;14702039;12477932;10664582;8889548;16169070;19615732;22939629;18781797;21987572;22118674;12938929;20972266;21139048;21890473;21906983;21963094;22245969;22505724 55593 G5E9D7;H7BZQ3;Q96G74 ABBA01046081;ABBA01046082;ABBA01046083;ABBA01046084;ABBA01046085;ABBA01046086;ABBA01046087;AC233294;AC233300;AF207550;AK022612;AK026260;AK294590;AL137509;AMYH01022290;AMYH01022291;BC009917;BC011738;BC028225;BC098440;BM797460;BY799160;CB243128;CH471224;CN368451;DA237046;DC419901;NM_001136157;NM_001136158;NM_001136159;NM_017602 AAH09917;AAH28225;AAH98440;BAB14131;BAB15416;BAG57778;CAB70778;EAW50722;EAW50723;EAW50724;EAW50725;EAW50726;EAW50727;NP_001129629;NP_001129630;NP_001129631;NP_060072;Q96G74 Hs.496098 1665067;1757581;2112514;2163628;2184128;2184673 DXS1470;DXS8208;DXS9835;RH18187;SHGC-145044;SHGC-17255 DKFZp761A052;DUBA;MGC104871 OTTHUMP00000025820;OTTHUMP00000025821;OTTHUMP00000025822;OTTHUMP00000226750;OTU domain-containing protein 5;deubiquinating enzyme A;deubiquitinating enzyme A APPROVED protein-coding ENSG00000068308 25402 06488 300713 REVIEWED 1352780 OTUD7B OTU domain containing 7B 1 1 1 q21.2 123028202 123098656 - 148178855 148249310 - 149912231 149982686 - 6480464 12477932;11463333;18029035;18474597;18178551;15489334;15342556;15302935;14748687;12682062;9928991;19427028;19615732;18029348;20622874;21097510;21624200;22939629;21139048;21890473;21906983;22118674;22179831;21888622;22505724;23000965;23251661;8889549 56957 Q5SZ59;Q6GQQ9 ABBA01049314;ABBA01049315;ABBA01049316;ABBA01049317;AC244033;AJ293573;AK299790;AL122102;AL358073;AL590487;AMYH01001373;BC015719;BC020622;BC072681;BP321045;BP357326;BX641079;CH471121;NM_020205;T51077 AAH20622;AAH72681;ABZ92356;BAH13129;CAB59268;CAB97494;CAI12651;CAI12652;EAW53586;EAW53587;NP_064590;Q6GQQ9 Hs.98322 1656625;1668098;1677498;1708382;1752847;1770376;1770378;1857344;2149759;5015961;5022588;5037552 A005M02;A008P08;D15S1477;D1S3332;D1S3576;D5S1597E;D8S2279;G20321;RH92193;SHGC-106702;SHGC-82873;WI-16732 CEZANNE;ZA20D1 OTTHUMP00000014192;OTTHUMP00000014193;OTU domain-containing protein 7B;cellular zinc finger anti-NF-kappa-B protein;cellular zinc finger anti-NF-kappaB Cezanne;zinc finger A20 domain-containing protein 1;zinc finger protein Cezanne;zinc finger, A20 domain containing 1 protein-coding ENSG00000163113 16683 10313 611748 VALIDATED 6482919 OTX2-AS1 OTX2 antisense RNA 1 (head to head) 14 57279901 57397550 + 12477932;15703187 100309464 ABBA01018233;ABBA01018234;ABBA01018235;AL161757;AL162831;AMYH01005751;BC041486;NR_029385 Hs.637962 1693554;1719965;1777569;1789050;2117951;2121772;2155388;2180337;5015879;5021228;5037552 D8S2279;G35948;G36071;G65660;GDB:312794;GDB:314949;RH123961;RH47643;SGC31031;SHGC-31332;SHGC-58465 OTX2OS1 APPROVED miscrna ENSG00000248550 43906 PREDICTED 1313892 OTX2 orthodenticle homeobox 2 This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012] 14 14 q22.3 56337178 56346937 - 57267425 57277194 - 1580863;6480464;7240710 15705863;16267555;19414065;18854396;18849347;18781617;18728160;18666230;17905480;17541950;17060451;16713569;16712695;16607563;15846561;15705891;15489334;15105370;12663655;12559959;12477932;10623575;10372988;10354480;9520436;8101484;7959790;12642491;21964830;22508046;22783640;21353197;15890343;19686387;19956411;19965921;20028867;20057906;20396904;20494911;20354145;20573704;22715480;19913121;20530484;20628086;21057506;20486942;21047732;21697133;21832049;22016811;22204637;16344560;22577225;22198066;22259223;20301552;22094256;23275563;23566845;22268617;22986744 5015 F1T0C9;F1T0D0;F1T0D1;G3V3J3;G3V3P9;P32243 AB037505;AB593056;AB593057;AB593058;ABBA01018233;AF093138;AF298117;AK314271;AL161757;AMYH01005751;BC032579;BE781530;BU176852;CH471061;CV812961;DB294481;NG_008204;NM_001270523;NM_001270524;NM_001270525;NM_021728;NM_172337;NR_073034;NR_073036 AAD31385;AAG16243;AAH32579;ABM81801;ABW03293;BAA90425;BAG36932;BAJ84003;BAJ84004;BAJ84005;EAW80692;EAW80693;NP_001257452;NP_001257453;NP_001257454;NP_068374;NP_758840;P32243 Hs.288655;Hs.741558 1772060;1779880;1793720;1793890;1796438;1851604;5023089 A005E27;OTX2_1019;Otx2;PMC263842P1;PMC304098P1;RH68366;SHGC-153881 CPHD6;MCOPS5;MGC45000 OTTHUMP00000179022;OTTHUMP00000245026;OTTHUMP00000245028;OTTHUMP00000245041;OTTHUMP00000245042;homeobox protein OTX2;orthodenticle homolog 2 APPROVED protein-coding ENSG00000165588 8522 07190 600037;610125;613986 REVIEWED 5683924 OVOL3 ovo-like 3 (Drosophila) 19 q13.12 36602105 36604613 + 22737237;12213202;15057824 728361 I3L074;K7EIM6;K7EKH2;O00110 ABBA01018779;AC004144;AD001527;AI206718;AMYH01009738;NM_001270948 AAB51180;NP_001257877;O00110 Hs.143920 OVO homolog-like 3;ovo-like 3 (Drosophila);putative transcription factor Ovo-like 2-like;putative transcription factor ovo-like protein 3 protein-coding 14186 PROVISIONAL 736236 OTX1 orthodenticle homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternate splicing results in two transcript variants that encoded the same protein.[provided by RefSeq, Dec 2010] 2 2 p13 63131469 63137818 + 63277192 63284966 + 1580863;6480464 19018235;18849347;16189514;15815621;15489334;15105370;14702039;12477932;11901358;10624946;9520436;8841200;8101484;7959790;19414065;19447967;19767753;19893048;20354145;15342556;8889548;21478910;21750575 5013 B5MC54;P32242 AB037501;ABBA01075397;AC009501;AK095680;AK297308;AMYH01010394;AMYH01010395;BC007621;BM720707;BP310240;BU689444;CH471053;NM_001199770;NM_014562 AAH07621;AAY24357;ABM84227;ABM87508;BAA90421;BAG53106;BAG59774;EAW99966;EAW99967;EAW99968;NP_001186699;NP_055377;P32242 Hs.734360 1746991 Otx1 FLJ38361;MGC15736 OTTHUMP00000159827;OTTHUMP00000201938;homeobox protein OTX1;orthodenticle homolog 1 APPROVED protein-coding ENSG00000115507 8521 08964 600036 REVIEWED 6480852 OXCT1-AS1 OXCT1 antisense RNA 1 100874002 AC034222;DB470733;DB476656 Hs.375537 APPROVED miscrna 40423 1603916 OVCA2 ovarian tumor suppressor candidate 2 17 17 17 p13.3 1961923 1963371 + 1945277 1946725 + 1945277 1946725 + 2302168;6480464 8616839 11979432;16368187;14702039;12477932;17207965;16712791;22939629 124641 Q8WZ82 ABBA01054688;AC090617;AF073528;AF321875;AF335321;AMYH01008006;BC040696;BC041170;CB137429;CH471108;NM_080822 AAC62628;AAH40696;AAH41170;AAL35713;AAN04659;ACT64486;ACT64487;ADQ33012;EAW90568;NP_543012;Q8WZ82 Hs.513856 1655243;1746663;1746665;1746667;1746681;1775180;2156718 G54884;G54885;G54886;G54887;RH18399;RH78032;WI-14017 OTTHUMP00000163303;candidate tumor suppressor in ovarian cancer 2;ovarian cancer gene-2 protein;ovarian cancer-associated gene 2 protein APPROVED protein-coding ENSG00000214014;ENSG00000262664 24203 07437 607896 VALIDATED 1348789 OXCT2P1 3-oxoacid CoA transferase 2 pseudogene 1 1 1 1 p34.3 38262370 38264174 + 39753207 39754822 + 39980535 39982339 + 11756565 192217 AB052900;ABBA01023208;AL365277;AMYH01000522;NG_001331 OXCT2P APPROVED pseudo 21627 INFERRED 1349339 OVGP1 oviductal glycoprotein 1, 120kDa This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008] 1 1 p13 111758460 111771922 - 111956937 111970399 - 1580863;6480464 9341614;18834073;16710414;16567366;16209999;15585630;15489334;14641477;11818519;7819450;3278893;10728974;12503889;12477932;16169070;20130498;9109822;20800603;22028245;21988832 5016 B4DHP1;Q12889;Q86YN0 AA909093;AB208783;ABBA01068397;AF189710;AK295207;AK298757;AK301726;AK314074;AL390195;AMYH01000946;AY189737;BC126177;BC136406;CH471122;NM_002557;U09550;U58010 AAA86946;AAB04126;AAF01065;AAI26178;AAI36407;AAO37816;BAD92020;BAG36774;BAG58203;BAG60899;BAG63192;EAW56491;EAW56492;NP_002548;Q12889 Hs.1154 1649591;1660114;1796440 D1S3210;OVGP1_1686;RH70550 CHIT5;EGP;MUC9;OGP OTTHUMP00000013471;estrogen-dependent oviduct protein;mucin 9;mucin-9;oviduct glycoprotein;oviduct-specific glycoprotein;oviductin APPROVED protein-coding ENSG00000085465 8524 04658 603578 REVIEWED 1315865 OVOL1 ovo-like 1(Drosophila) This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011] 11 11 11 q13 62885403 62888586 + 65311105 65321261 + 65554505 65564690 + 1580863;6480464 16344560;15489334;12477932;9808631;9383297;18029348;20379614;20383146;17311813;22737237;22197932;21988832;23042114;23263486 5017 G3V1B0;O14753 ABBA01024100;ABBA01024101;ABBA01024102;AF016045;AK291711;AL702845;AMYH01003726;AMYH01003727;AP001266;AW207443;BC043146;BC059408;BX648725;CH471076;CV572438;DA585109;NM_004561 AAB72084;AAH43146;AAH59408;ABZ92428;ACE86864;ACE87552;BAF84400;CAH56127;EAW74439;NP_004552;O14753 Hs.134434 1769076;1797936;1852083;2182523 OVOL1_2102;SHGC-31436;STS-R06866;WI-17527 HOVO1 OTTHUMP00000233668;OTTHUMP00000233669;ovo homolog-like 1;putative transcription factor Ovo-like 1 APPROVED protein-coding ENSG00000172818 8525 09080 602313 REVIEWED 1314567 OVOL2 ovo-like 2 (Drosophila) 20 20 20 pter-q11.23 18079347 18113079 - 17952796 17986521 - 18004796 18038521 - 1580863;6480464 15489334;14702039;12477932;12213202;11780052;19700410;22737237 58495 Q9BRP0 ABBA01054038;ABBA01054039;AK022284;AL079276;AL121585;AL160411;AMYH01011741;BC006148;BT007295;CH471133;NM_021220 AAH06148;AAP35959;BAB14002;CAB45151;EAX10258;EAX10259;NP_067043;Q9BRP0 Hs.661013;Hs.710157 1709534;1721439;1776879;1784394;2168206;5022450 D10S275;G59571;RH48332;SHGC-154610;SHGC-81846;Z94514 EUROIMAGE566589;ZNF339 OTTHUMP00000030347;hOvo2;transcription factor Ovo-like 2;zinc finger protein 339 protein-coding ENSG00000125850 15804 15780 VALIDATED 1316768 OXA1L oxidase (cytochrome c) assembly 1-like 14 14 q11.2 22305571 22310607 + 23235731 23240998 + 1580863;6480464 7991568;9247084;17936786;19349278;15489334;15342556;12477932;12191770;8586451;12972568;18029348;20601428;20739282;20877624;20677014;22939629;21890473;20186120 5018 C9JC63;E7EVY0;H7BZE6;J3KNA0;Q15070;Q2M1J6 ABBA01061283;AJ001981;AK294849;AK298249;AL135998;AMYH01005599;BC001669;BC112331;BP303816;BP330984;BQ029315;BX248001;BX248295;CH471078;NM_005015;X80695 AAH01669;AAI12332;BAG57953;BAG60514;CAA05127;CAA56712;CAD62333;CAD62623;EAW66249;NP_005006;Q15070 Hs.151134 1770258;1857986;2147278 D14S1254;D14S684E;WI-9372 MGC133129;OXA1 OTTHUMP00000027912;OTTHUMP00000211617;OTTHUMP00000211622;OXA1-like protein;OXA1Hs;hsa;mitochondrial inner membrane protein OXA1L;oxidase assembly 1-like protein protein-coding ENSG00000155463 8526 03043 601066 VALIDATED 1312252 OXCT1 3-oxoacid CoA transferase 1 This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008] 5 5 p13.1 41765924 41906548 - 41730167 41870791 - 1580863;2326198;2326100;2326201;2326093;2326185;2326191;6480464;6907045;7240710 15449568;3548709;8844009;15877199;20460097;19219059 8751852;10964512;11756565;18648183;17706444;16765626;15496607;15489334;14702039;12477932;9671268;9380443;6150478;1405472;18029348;19296078;20381070;20877624;21296660;22863883;21163940;22939629;21565611;21791085 5019 B7Z528;E9PDW2;P55809 AB029576;ABBA01024235;ABBA01024236;ABBA01024237;AC008817;AC034222;AC114946;AK125115;AK298352;AK299668;AK312327;AK315902;AMYH01015050;BC009001;BE244429;CH471119;CR457049;EF095213;HH961782;NG_011823;NM_000436;U62961 AAB07366;AAH09001;ABL01517;ABM82731;ABM85915;BAB13733;BAG35249;BAH12764;BAH13095;BAH14273;CAG33330;CBX51364;EAW56014;EAW56015;NP_000427;P55809 Hs.278277 1666158;2150448;2152107;5014740;5022322;5037552;5109362 D11S2560;D17S1239;D17S610;D5S2324;D8S2279;G18180;WI-22128 OXCT;SCOT 3-oxoacid CoA-transferase 1;3-oxoacid-CoA transferase 1;OTTHUMP00000120012;OTTHUMP00000221550;SCOT-s;somatic-type succinyl CoA:3-oxoacid CoA-transferase;somatic-type succinyl-CoA:3-oxoacid CoA-transferase;somatic-type succinyl-CoA:3-oxoacid-CoA-transferase;succinyl CoA:3-oxoacid CoA transferase;succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial;succinyl-CoA:3-ketoacid-CoA transferase;succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial APPROVED protein-coding ENSG00000083720 8527 02001 245050;601424 REVIEWED 1315859 OXCT2 3-oxoacid CoA transferase 2 OXCT2 is a testis-specific succinyl-CoA:3-oxoacid CoA transferase (EC 2.8.3.5), which catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate in the first step of ketone body utilization. See also OXCT1 (MIM 601424).[supplied by OMIM, Mar 2008] 1 1 1 p34 38262370 38264174 + 40007784 40009607 - 40235197 40237020 - 1580863;2326216;6480464;6907045 11090426 11756565;15489334;14702039;12477932;11327867;11214971 64064 Q9BYC2 AB050193;ABBA01023201;AK024440;AK093089;AK314586;AL033527;AMYH01000526;AMYH01000527;AY013700;BC030015;BC072388;HC007202;NM_022120 AAG33922;AAH72388;ABM84266;ABM87659;BAB15730;BAB40810;BAG37161;BAG52651;CBH19406;NP_071403;Q9BYC2 Hs.472491 2180677;5022578 AL010109;D1S1423 FKSG25;FLJ00030;SCOTT 3-oxoacid CoA-transferase 2A;3-oxoacid-CoA transferase 2A;OTTHUMP00000010841;succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial;succinyl-CoA:3-ketoacid-coenzyme A transferase 2, mitochondrial;testis-specific succinyl CoA:3-oxoacid CoA-transferase;testis-specific succinyl-CoA:3-oxoacid CoA-transferase APPROVED protein-coding ENSG00000198754 18606 15093 610289 PROVISIONAL 1346676 OXER1 oxoeicosanoid (OXE) receptor 1 2 2 2 p21 42828890 42830652 - 42843143 42844905 - 42989639 42991401 - 1580863;6480464 16289380;12065583;15815621;15489334;15001665;14702039;12606753;12477932;12044878;18821565;2834384;18577758 165140 Q8TDS5 AB065652;AB083055;AB083630;ABBA01075076;AC098824;AMYH01010291;AY158687;BC063549;CH471053;NM_148962 AAH63549;AAO17739;AAY14700;BAB89343;BAC05878;BAC11806;EAX00312;NP_683765;Q8TDS5 Hs.168439 1677460;1677462 RH80145;RH80146 GPCR;GPR170;TG1019 5-oxo-ETE G-protein coupled receptor;5-oxo-ETE acid G-protein-coupled receptor 1;G-protein coupled receptor 170;G-protein coupled receptor R527;G-protein coupled receptor TG1019;OTTHUMP00000158809;oxoeicosanoid receptor 1 protein-coding ENSG00000162881 24884 17812 VALIDATED 2290031 OXLD1 oxidoreductase-like domain containing 1 17 17 17 q25.3 76276983 76278535 - 77242471 77244023 - 79632066 79633618 - 12477932;9110174;8619474;20877624 339229 I3L208;I3L247;Q5BKU9 ABBA01032159;AC139530;AMYH01008718;AY007126;BC038412;BC048102;BC090923;NM_001039842 AAH90923;NP_001034931;Q5BKU9 Hs.405942 1697852 RH102453 C17orf90;MGC104712 hypothetical protein LOC339229;oxidoreductase-like domain-containing protein 1;uncharacterized protein C17orf90 APPROVED protein-coding ENSG00000204237 27901 PROVISIONAL 1346637 OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1 13 13 13 q32.1 78485394 78494031 - 96435974 96444605 - 97637973 97646604 - 1331359;6480464 15141213 12098360;15489334;15057823;15001573;12477932;12044878;11574155;19760608;20379614 27199 B2R986;F5H3P1;F5H6U5;Q96P68 AB065877;AB083598;ABBA01027167;AF370886;AF411109;AJ305372;AK122639;AK313684;AL356486;AMYH01005311;BC103881;BC103882;BC103883;CH471085;CQ798086;JQ308179;NM_080818 AAI03882;AAI03883;AAI03884;AAL26480;AAM76912;AFF59489;BAB89311;BAC06095;BAG36433;BAG53633;CAC83857;CAG26849;EAX08964;NP_543008;Q96P68 Hs.352218 5492519;5492799 UniSTS:481430;UniSTS:482693 GPR80;GPR99;MGC119206;MGC119207;MGC119208;P2RY15;P2Y15 2-oxoglutarate receptor 1;G protein-coupled receptor 80;G protein-coupled receptor 99;G-protein coupled receptor 80;G-protein coupled receptor 99;OTTHUMP00000018575;OTTHUMP00000236959;OTTHUMP00000236961;P2Y purinoceptor 15;P2Y-like GPCR;P2Y-like nucleotide receptor;alpha-ketoglutarate receptor 1;oxoglutarate receptor 1;seven transmembrane helix receptor APPROVED protein-coding ENSG00000165621 4531 06082 606922 REVIEWED 1353221 P200 p200 cell surface protein 5035 8532 1603935 OXNAD1 oxidoreductase NAD-binding domain containing 1 3 3 3 p25-p24 16245587 16286511 + 16281718 16322598 + 16306667 16347594 + 6480464 12477932;17207965;20877624 92106 C9JLB7;F5H620;F8WB50;F8WBF3;Q96HP4 AB209556;ABBA01025130;ABBA01025131;AC090953;AK298829;AK307258;AL583453;AL832787;AMYH01013002;BC007285;BC008322;BC018770;BE018369;CH471055;DC321860;DQ364598;NM_138381 AAH08322;ABC95193;ADQ32643;BAD92793;BAG60959;EAW64270;EAW64271;EAW64272;NP_612390;Q96HP4 Hs.655449 5113565 RH99017 MGC15763 OTTHUMP00000160306;OTTHUMP00000211112;oxidoreductase NAD-binding domain-containing protein 1 protein-coding ENSG00000154814 25128 14446 VALIDATED 736017 OXTR oxytocin receptor The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008] 3 3 p25 8767094 8786300 - 8792094 8811300 - 1579893;1579891;1580863;1579892;2304092;2304192;2304174;6480464 12826328;14624682;15821089;18655887;11764003;16157794 10858434;1313946;10910058;19515497;19461999;19376182;19347709;19336370;19126785;19086053;19015103;19001515;18312604;18207134;18082926;17952758;17939166;17893705;17728669;17726073;17492653;17383819;17148753;16966388;16888077;16333859;16042376;15992526;15831296;15705593;15591449;15093695;15089977;15089975;15044599;15035619;14749664;14691010;14664707;12955084;12843193;12810550;12270111;12166628;12161007;12126740;11955056;11279203;11140838;10698266;10453463;10027615;9433921;9283088;22510359;22563705;8593830;8593829;8077313;7921229;7798245;7607693;12477932;15452121;19423652;19598235;19777562;19845972;19934046;19943975;20094064;20096818;20097922;20196918;20303388;20347913;20400491;20436377;20452482;20488544;20547007;16754659;20670427;20832055;20711752;20547038;20585395;20647384;20673868;20708845;20724662;20413116;22421562;20926803;22357335;21896752;21208749;21561435;22084107;21090345;21963428;21964067;22123970;21876222;21906983;22015110;22296985;21734268;22457427;22487732;22146101;22064162;21934640;22212599;22763666;23040540;23089921;23252931;22882465;22999795;22986294;23284802;21984889;22892716;22336563;22372486 5021 B2R9L7;C9JN09;C9JQC4;P30559 ABBA01020417;AC068312;AK313830;AMYH01012962;AY389507;BC137443;CH471055;NG_008797;NM_000916;X64878;X80282 AAI37444;AAQ91333;BAG36564;CAA46097;CAA56562;EAW63947;NP_000907;P30559 Hs.2820 1645702;1731227;1745407;1792930;2153889;2159513;5106050 D3S18;D3S4163;D3S4539;GDB:606394;OXTR;PMC170950P1;STS-X64878 OT-R OTTHUMP00000115639;oxytocin receptor APPROVED protein-coding ENSG00000180914 8529 01328 167055 REVIEWED 737586 OXT oxytocin/neurophysin I prepropeptide This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Jun 2013] 20 20 p13 3000266 3001162 + 3052266 3053162 + 1580863;1579892;2304129;2304139;2304111;2304174;2304192;2304127;2304087;2304105;1579891;6480464 15821089;17664006;17393298;18403049;16157794;11764003;17826914;19234577;18562099;14624682 17474147;10218979;19473710;19347709;19336370;19335381;19086053;19058789;19005082;19001515;18940936;18794210;18568974;18566739;18461271;18384894;18207134;18008328;17931766;17492653;17252002;17137561;16778082;16678285;15489334;15093695;15089975;14607844;13591312;12843193;12834028;12832367;12712516;12477932;12475731;12183418;12126740;11780052;11140838;10829090;10698266;9665335;9501254;7262323;6574452;6153132;4065330;3768139;3008332;2991279;2249637;1486803;12173;19481007;19500216;19587265;19598235;19672816;19874574;19943975;20196918;20220015;20371820;20436377;20468064;20547007;20547038;20602615;16754659;20144509;20399783;20711752;21073007;21315262;22297159;22872688;20595062;21744319;22997507;21741363;20308198;21832819;21903023;21090345;21893160;21682649;21960250;22069312;21562482;22227278;22245314;22285934;22306668;23144787;22807189;23284856;23589638;23258269;21984889;22336563;22418012 5020 P01178 ABBA01053805;AI185553;AL160414;AMYH01011672;AY082910;BC069144;BC101841;BC101843;CH471133;CQ753275;M11186;M25650;M62611;NM_000915;X03173 AAA59977;AAA59979;AAA98806;AAH69144;AAI01842;AAI01844;AAL92860;CAA26936;CAF32560;EAX10555;NP_000906;P01178 Hs.113216 2131515;2183927;5492931 RH64825;STS-M11186;UniSTS:483281 MGC126890;MGC126892;OT;OT-NPI;OXT-NPI OTTHUMP00000030079;neurophysin I;oxytocin, prepro- (neurophysin I);oxytocin, prepropeptide;oxytocin-neurophysin 1;oxytocin-neurophysin I, preproprotein APPROVED protein-coding ENSG00000101405 8528 08880 167050 REVIEWED 733979 P2RX2 purinergic receptor P2X, ligand-gated ion channel, 2 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Six transcript variants encoding six distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 q24.33 131705476 131709045 + 133195403 133198972 + 633343;1580863;6480464 7523952 17895406;9119082;18922787;18487206;15657042;15331767;15313628;14660627;12477932;12395104;12270951;10935636;10570044;7566120;22556417;19104511;19793987;20426799;20699225;22828800;22378790;21343285;21576497;21768526;23345450 22953 H0YF94;H0YGR7;H0YGU6;Q9NR38 ABBA01012379;ABBA01012380;ABBA01012381;ABBA01012382;ABBA01012383;AC131212;AF109387;AF109388;AF190822;AF190823;AF190824;AF190825;AF190826;AF260426;AF260427;AF260428;AF260429;AMYH01004921;AY346374;BC109200;CH471218;NM_012226;NM_016318;NM_170682;NM_170683;NM_174872;NM_174873 AAD42947;AAD42948;AAF19170;AAF19171;AAF19172;AAF19173;AAF19174;AAF74201;AAF74202;AAF74203;AAF74204;AAI09201;AAQ54329;EAW54835;EAW54836;EAW54837;EAW54838;EAW54839;EAW54840;NP_036358;NP_057402;NP_733782;NP_733783;NP_777361;NP_777362;Q9UBL9 Hs.258580 2108337;2119607 G16012;P2RX2_8004 DFNA41;MGC129601;P2X2 ATP receptor;OTTHUMP00000237597;OTTHUMP00000237598;OTTHUMP00000237599;OTTHUMP00000237600;OTTHUMP00000237601;OTTHUMP00000237602;OTTHUMP00000237603;P2X Receptor, subunit 2;P2X purinoceptor 2;deafness, autosomal dominant 41 APPROVED protein-coding ENSG00000187848 15459 15984 600844 REVIEWED 1603026 OXSM 3-oxoacyl-ACP synthase, mitochondrial This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009] 3 3 3 p24.2 25768436 25772898 + 25806575 25811029 + 25831563 25836025 + 6480464;6907045 15668256;16344560;15489334;14702039;12477932;8125298;18029348;20877624;11256614;21832049 54995 C9J2G3;C9JQQ2;F8VNS3;Q9NWU1 ABBA01025015;AC092798;AK000611;AK225260;AK304821;AMYH01013037;BC008202;CH471055;DA916187;HC909479;HC912803;NM_001145391;NM_017897;NR_026937 AAH08202;ADZ15386;BAA91286;BAG65569;CBN69072;CBN70680;EAW64367;EAW64368;EAW64369;NP_001138863;NP_060367;Q9NWU1 Hs.55781 1697394 RH102197 FASN2D;FLJ20604;KASI;KS 3-ketoacyl-acyl carrier protein synthase;3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial;3-oxoacyl-acyl-carrier-protein synthase;OTTHUMP00000161043;OTTHUMP00000208316;acyl-malonyl acyl carrier protein-condensing enzyme;beta-ketoacyl synthase;beta-ketoacyl-ACP synthase;type II mitochondrial beta-ketoacyl synthase APPROVED protein-coding ENSG00000151093 26063 07931 610324 REVIEWED 736780 P2RX1 purinergic receptor P2X, ligand-gated ion channel, 1 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] 17 17 p13.3 3746634 3766709 - 3799885 3819960 - 1580811;1580863;6480464;7240710 12907444 9565569;2457808;17895406;8834001;19118095;18765669;18480058;17399929;16997281;16634759;16546137;16529657;16420578;16359770;16236030;16113781;16006561;15686781;15489334;15313628;15087444;14699168;14675100;14557870;14500714;12791671;12521992;12495655;12477932;12353081;12270951;12239162;12135734;11816716;11815371;11809854;11376948;10816552;10638758;9558372;8809107;21768526;20374431;19552691;19635923;19808895;20024498;20068232;20110693;17207965;20660288;20345709;20699225;22212928;21690089;22971236;22393010;21757694;22450808;22851178 5023 I3L3H3;P51575 A47363;ABBA01054750;AC005940;AF020498;AF078925;AF177472;AK313264;AMYH01008033;BC027949;BC044657;BX644575;CH471108;JX471560;NG_012109;NM_002558;U45448;X83688 AAC24494;AAC32187;AAC50698;AAD55395;AAH27949;AAH44657;ADQ32985;AFU91505;BAG36073;CAA03057;CAA58657;EAW90471;EAW90472;EAW90473;NP_002549;P51575 Hs.41735 1337971;1768437;1777379;2108335;2191597;5021704;7186985 D17S1828;MARC_26793-26794:1034271709:3;P2RX1_7847;STS-X83688;WI-17165;ksks291 P2X1 ATP receptor;P2X purinoceptor 1;P2X receptor, subunit 1;P2X1 receptor;purinergic receptor P2X1 APPROVED protein-coding ENSG00000108405 8533 07526 600845 REVIEWED 1351310 OXSR1 oxidative stress responsive 1 The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008] 3 3 p22.2 38182030 38271983 + 38207026 38296979 + 1580863;6480464 14707132;17353931;10083736;18029348;17721439;17081983;16832045;16669787;16389068;16263722;15761153;15489334;15345747;15302935;12477932;12386165;10470851;10231028;18270262;18831043;19177573;20889219;21832049;22939629;22989884;20819979;17549794;23034389;22863883;21139048;19322201;19805454 9943 C9JIG9;F8WBK9;O95747 AB017642;AB029024;ABBA01024825;ABBA01024826;ABBA01024827;AF087893;AK309634;AMYH01013089;AMYH01013090;AMYH01013091;AP006193;AP006308;AP006309;BC008726;BI090706;CH471055;DQ201638;NM_005109 AAH08726;AAP97192;ABA27097;ABM84181;ABM87583;BAA75674;BAA83053;EAW64522;EAW64523;EAW64524;EAW64525;NP_005100;O95747 Hs.475970 1646740;1657074;1672804;1710516;1735304;1850694;1857024;2108857;2121001;2166304;2175902 D3S2887E;D3S2942E;D3S3333;OSR1__5793.2;RH47460;SHGC-76839;SHGC-76840;SHGC-76846;SHGC-86285;T03494;WIAF-1617 KIAA1101;OSR1 OTTHUMP00000161719;OTTHUMP00000209062;oxidative stress-responsive 1 protein;serine/threonine-protein kinase OSR1 APPROVED protein-coding ENSG00000172939 8508 06809 604046 REVIEWED 2303847 P2RX6P purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene 22 22 22 q11.21 4887983 4889840 - 19726681 19728538 - 21396681 21398538 - 15809229 440799 Q5BLP4 ABBA01015432;AC002472;AMYH01012541;AY947528;NR_002829 AAX21789 Hs.640665 pseudo ENSG00000206145 34076 PROVISIONAL 736990 OXR1 oxidation resistance 1 8 8 8 q23 103469771 103951905 + 107739270 107834097 + 107282406 107764922 + 1580863;6480464 12880961;11114193;17516841;17391516;17081983;16344560;15489334;15060142;14702039;12477932;8889548;20877624;22863883;22990118;22873401 55074 C9JY63;E5RFD1;E5RII8;E9PLW2;H0YC07;Q6ZVK9 AB075503;ABBA01037683;ABBA01037684;ABBA01037685;ABBA01037686;ABBA01037687;ABBA01037688;ABBA01037689;ABBA01037690;AC023344;AC027031;AC090579;AF309387;AK000987;AK096148;AK098168;AK123667;AK124441;AK292899;AK296561;AK302844;AK303695;AK316153;AL833193;AMYH01018951;AMYH01018952;AP000430;AP002090;BC019691;BC032710;BC035484;BC040619;BM472225;BM668428;BM682193;CH471060;DA232248;DA544318;DC366184;DQ020202;FN650108;FN650109;NM_001198532;NM_001198533;NM_001198534;NM_001198535;NM_018002;NM_181354 AAG25715;AAH19691;AAH32710;AAY26396;ABM81826;ABM84979;BAA91456;BAC04711;BAC85852;BAE45753;BAF85588;BAH12388;BAH13819;BAH14021;BAH14524;CAI46186;CBI84064;CBI84065;EAW91903;EAW91904;EAW91905;NP_001185461;NP_001185462;NP_001185463;NP_001185464;NP_060472;NP_851999;Q8N573 Hs.127286;Hs.701892 1338829;1339240;1357236;1670236;1682381;1689141;1697400;1701230;1719621;1729099;1748755;1750557;1764021;1786886;2116634;2137541;2163720;2176609;2190517;5037552 D8S1131;D8S1132;D8S1830;D8S2279;D8S446;EST14A2;G31477;GDB:314569;RH102200;RH104243;RH123715;RH25344;RH68257;SHGC-110387;SHGC-111864;SHGC-147677;SHGC-31183;SHGC-85774;Tagln2;WI-13576 FLJ10125;FLJ38829;FLJ40849;FLJ41673;FLJ42450;FLJ45656;Nbla00307;TLDC3 OTTHUMP00000209768;OTTHUMP00000209769;OTTHUMP00000209770;OTTHUMP00000227581;OTTHUMP00000227750;OTTHUMP00000229176;TBC/LysM-associated domain containing 3;oxidation resistance protein 1;putative protein product of Nbla00307 protein-coding ENSG00000164830 15822 16126 605609 VALIDATED 735321 P2RX3 purinergic receptor P2X, ligand-gated ion channel, 3 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. [provided by RefSeq, Jul 2008] 11 11 q12 56862525 56894125 + 57105841 57137549 + 1580863;6480464 9221902;17895406;18805451;18600577;17052768;15475563;15331767;14520770;12885270;12477932;12270951;11069162;9016352;7566120;7566110;19456993;20110693;20308565;20418063;22498660;20699225;19960242;21098022;22052556;22160848;22378790;22963434 5024 H0YDR6;P56373 AB016608;ABBA01021468;AMYH01003651;AP000781;BC069162;BC074792;BC074793;BC109287;CH471076;DB462670;NM_002559 AAH69162;AAH74792;AAH74793;AAI09288;BAA76515;EAW73736;EAW73737;NP_002550;P56373 Hs.146738 1658684;1736997;1738119 D11S2735;D11S3743;D11S4401 MGC129956;P2X3 ATP receptor;OTTHUMP00000234771;P2X purinoceptor 3;P2X receptor, subunit 3;purinergic receptor P2X3;purinoceptor P2X3 APPROVED protein-coding 8534 09016 600843 REVIEWED 5684195 P2RY10P2 purinergic receptor P2Y, G-protein coupled, 10 pseudogene 2 X q21.1 78340425 78341484 + 449518 ABBA01030169;AL356461;AMYH01022638;AX646929;NG_004704 pseudo 32924 VALIDATED 732285 P2RX4 purinergic receptor P2X, ligand-gated ion channel, 4 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012] 12 12 q24.32 120132047 120156292 + 121647664 121671909 + 1642301;6480464 16497176 9016352;12088286;12819199;17785580;17895406;11606481;15130891;10969036;10899068;17264311;14978347;19283779;19226284;18852390;18678988;18635539;18487206;12477932;12270951;11299224;9221902;8125298;15006691;12714321;17197037;16949036;16533808;15262999;15167446;19552691;19562525;19913121;20628086;20660288;20699225;19953327;21106936;22528681;22988022;22996386;22753954;21899776;21808018;22219189;22068874;21768526;22837036;23086000;23138503;21988832;23303206 5025 B7Z1M5;B7Z4R5;E7EPF7;F5GZQ9;F5H1M6;F5H2S3;F6RU17;H0YF70;Q5U089;Q99571 ABBA01020153;AC069209;AF000234;AF012903;AF191093;AK225604;AK293599;AK293660;AK297704;AK301080;AK308549;AK308868;AMYH01004810;AMYH01004811;BC017458;BC033826;BC035845;BT019738;BT019739;BX402887;CH471054;DQ851491;JF807485;JX471561;NM_001256796;NM_001261397;NM_001261398;NM_002560;NR_046372;NR_046373;U83993;U85971;U87270;Y07684 AAB58405;AAB66834;AAD00553;AAD00556;AAF06661;AAH33826;AAV38543;AAV38544;ABI31772;ABM81832;ABM84985;AEC23355;AFU91506;BAH11544;BAH11561;BAH12651;BAH13404;CAA68948;EAW98242;EAW98243;EAW98244;EAW98245;EAW98246;NP_001243725;NP_001248326;NP_001248327;NP_002551;Q99571 Hs.321709 1687331;2106827;2106829;2106831;2106833;2106835;2106837;2106839;2106841;2106843;2106847;2106849;2106853;2107479;2127037;2165057;5022450;5109281 A009Q17;D10S275;D1S1425;P2RX4_7848;PG4S01;PG4S02;PG4S0304;PG4S05;PG4S06;PG4S0910;PG4S1112;PG4S12;PG4S3UT01;PG4S5UT0106;PG4S5UT05;PG4S5UT0901;RH76377;STS-Y07684 P2X4;P2X4R ATP receptor;ATP-gated cation channel protein;OTTHUMP00000240228;OTTHUMP00000240229;OTTHUMP00000240233;P2X purinoceptor 4;P2X receptor, subunit 4;purinergic receptor P2X4;purinoceptor P2X4 2289606 BW476_H APPROVED protein-coding ENSG00000135124 8535 09017 600846 REVIEWED 737418 P2RX5 purinergic receptor P2X, ligand-gated ion channel, 5 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011] 17 17 p13.3 3523270 3546332 - 3576521 3599698 - 1580863;6480464 17895406;9414125;18719914;17001079;16967306;16322791;14702039;12880424;12787128;12665801;12477932;12270951;10673275;9110174;8619474;17207965;20223879;20962269;21092862;19074734 5026 B4DEG2;H0YHT9;H0YII8;K7EQ78;Q9NZV0 AA805176;ABBA01054742;AC132942;AF016709;AF070573;AF168787;AK092966;AK290889;AK293610;AK307959;AMYH01008032;BC006220;BC008319;BC016917;BC028084;BC039015;BM477082;CH471108;DQ234349;DQ851492;NM_001204519;NM_001204520;NM_002561;NM_175080;U49395;U49396 AAB08576;AAB08577;AAC28645;AAC51931;AAF43105;AAF43106;AAH39015;ABB29978;ABI31773;ADQ32997;BAF83578;BAG57073;EAW90482;EAW90483;EAW90484;EAW90485;EAW90486;EAW90487;EAW90488;NP_001191448;NP_001191449;NP_002552;NP_778255;Q93086 Hs.731607 1671494;1693498;1703224;2142017;2152703 SGC31971;SHGC-24369;SHGC-58334;STS-T52483;WI-20223 LRH-1;MGC47755;P2X5;P2X5R ATP receptor subunit;OTTHUMP00000115870;OTTHUMP00000241718;OTTHUMP00000241719;OTTHUMP00000241720;OTTHUMP00000241722;OTTHUMP00000241723;P2X purinoceptor 5;ionotropic ATP receptor P2X5;lymphoid-restricted histocompatibility antigen-1;purinergic receptor P2X ligand gated ion channel 5 APPROVED protein-coding ENSG00000083454 8536 09110 602836 REVIEWED 736104 P2RY1 purinergic receptor P2Y, G-protein coupled, 1 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008] 3 3 q25.2 154035426 154038535 + 152552736 152555845 + 1580863;2315811;2315809;6480464 19115395;19303093 8630005;19132198;18799799;18502966;18500760;18310463;18270199;18174464;18057028;17824841;17559347;17095747;16848759;16804093;16741950;16634769;16581111;16546137;16267125;15665114;15602005;15590415;15514209;15509659;15496502;15489334;15284110;15203713;15187029;15099288;14644082;12880424;12871508;12787128;12623443;12603858;12477932;12393588;12147294;11904146;11690642;11578839;11390975;11159687;9671706;9442040;9268704;9039850;9038354;8666290;8579591;20070609;14742685;18240029;18577758;19637098;19740098;19934793;20056178;20063989;20192270;22610502;20847060;19913121;20473398;20628086;20586915;22916275;21210088;21632028;22052557;21643756;22079667;22249129;22250198;23326583;22574824;22701645;22450808 5028 P47900 ABBA01058888;AC013251;AF018284;AJ006945;AMYH01013587;AY136752;BC074784;BC074785;CH471052;NG_032896;NM_002563;S81950;U42029;U42030;Z49205 AAA97872;AAA97873;AAB47091;AAB94556;AAH74784;AAH74785;AAN01278;CAA07339;CAA89066;EAW78773;NP_002554;P47900 Hs.654526 1777482;1777840;1792692;1794668;1794670;2107481;5492651 P2RY1_7850;PMC156657P1;PMC34459P1;PMC34459P2;SGC35403;SHGC-77461;UniSTS:481903 P2Y1 ATP receptor;OTTHUMP00000216247;P2 purinoceptor subtype Y1;P2Y purinoceptor 1;platelet ADP receptor APPROVED protein-coding ENSG00000169860 8539 03103 601167 REVIEWED 1343009 P2RY10 purinergic receptor P2Y, G-protein coupled, 10 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. Two alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] X X X q21.1 78441146 78457754 + 78087485 78104094 + 78200829 78217438 + 1580863;6480464 18466763;15772651;15489334;12477932;11004484;10570953;9755289;18577758;18240029;16754659 27334 O00398 ABBA01030151;ABBA01030152;AF000545;AK292138;AK313218;AMYH01022638;AW294346;AY275461;BC051875;BC095498;CD639881;CH471104;NG_013276;NM_014499;NM_198333;Z82200 AAB57836;AAH51875;AAH95498;AAP32293;BAF84827;EAW98594;EAW98595;NP_055314;NP_938147;O00398 Hs.296433 1334595;2109617 DXS1225;P2RY10_9549 P2Y10 G-protein coupled purinergic receptor P2Y10;OTTHUMP00000023599;P2Y purinoceptor 10;P2Y-like receptor;putative P2Y purinoceptor 10 APPROVED protein-coding ENSG00000078589 19906 06670 300529 REVIEWED 736820 P2RX6 purinergic receptor P2X, ligand-gated ion channel, 6 The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009] 22 22 22 q11.21 4860745 4873604 + 19699464 19712302 + 21369442 21382302 + 1580863;6480464 12088286;9242461;17895406;19240061;19023099;18852390;17975119;16344560;15657042;15489334;15461802;12477932;12112843;11171941;10591208;8670303;15313628;21832049;22378790 9127 E7ES48;H7C140;H7C266;H7C2V4;O15547;Q05BG9;Q6P1Z3 AB002058;AB002059;ABBA01015432;AC002472;AF065385;AK309079;AMYH01012540;BC033488;BC047287;BC063553;BC064805;BC109209;BI753477;CH471176;CR456535;DA333742;NM_001159554;NM_005446 AAF13303;AAH33488;AAH47287;AAH64805;AAI09210;BAA22046;BAA22047;CAG30421;CAK54566;CAK54865;EAX02910;EAX02911;EAX02912;EAX02913;EAX02914;NP_001153026;NP_005437;O15547 Hs.113275 1674448;2125108;2218608 D22S1239;D22S548;SLC7A4__3865 MGC129625;P2RXL1;P2X6;P2XM ATP receptor;OTTHUMP00000198256;OTTHUMP00000198654;P2X purinoceptor 6;purinergic receptor P2X-like 1, orphan receptor;purinergic receptor p2x-like 1;purinoceptor P2X6;purinoreceptor P2X6;skeletal muscle-expressed P2X APPROVED protein-coding 8538 08490 608077 REVIEWED 1346111 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008] 19 19 p13.2 10083197 10087065 + 10222197 10226065 + 1580863;6480464 22177342;9405388;18726826;18056402;17824841;17707504;17338680;17135283;16926152;15489334;12477932;12077223;11690642;11278528;10947861;7566098;12036966;20668227;16754659;18048695;21170044;20964598;22052557 5032 Q96G91 AA310412;ABBA01029947;AC020931;AF498921;AJ298334;AK313550;AMYH01009467;AY449733;BC009877;BC073827;CH471106;NM_002566 AAH73827;AAM18130;AAR18077;BAG36326;CAC29362;EAW84077;NP_002557;Q96G91 Hs.14468 1739175;5127747 D13S1132;RH78956 P2Y11 OTTHUMP00000196510;P2Y purinoceptor 11;P2Y11 receptor;purinergic receptor P2Y11 APPROVED protein-coding ENSG00000244165 8540 04076 602697 REVIEWED 730814 P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] 12 12 q24 120055061 120108259 + 121570622 121624354 + 6480464 22377955;9038151;17785580;17895406;17036048;19453261;19330776;18089587;19328558;19264037;19226284;19225709;19211924;19204004;19201928;19186133;19160446;19151591;19076224;19074885;19068080;19017759;18987356;18971257;18937793;18852390;18801407;18765670;18682393;18678419;18676680;18617511;18614336;18596211;18545980;18543274;18523309;18436590;18268501;18211888;18071294;18040764;17947359;17928361;17558311;17488689;17483156;17482244;17314141;17286963;17257221;17197037;17142754;17130901;17095747;17065105;17065062;17040997;17032903;16822851;16740600;16673375;16624800;16541075;16514055;16424024;16321858;16263709;16228288;16117789;15991050;15972634;15942904;15923180;15901833;15899033;15896293;15862308;15778408;15777864;15728711;15571247;15489334;15475073;15472991;15304508;15184265;15155383;15123679;15120006;15089763;15004138;14976257;14702039;14607949;14510944;12931211;12880424;12874700;12874219;12787128;12759456;12633871;12586825;12493261;12477932;12456589;12422208;12404161;12270951;11943260;11852049;11707406;11341329;11150303;9826911;8125298;12107182;22274585;22490780;20605778;19931869;20446288;16344560;17474147;19170196;19309360;19396427;19430700;19494237;19548263;19552691;19625176;19682070;19692168;19700502;19748989;19882109;19889958;19891999;20007545;20138022;20164546;20188863;20196868;20351714;20378545;20379614;20424473;20488797;20493226;20535134;20495003;20185692;20453110;20450227;20846359;21041608;20226536;20813842;19913121;20360457;20628086;20661107;20819262;20668222;20837475;21508263;21233486;21262970;21205829;21266468;20508067;22476940;22547202;22948816;22996386;22806078;22662160;21187936;21821797;21492831;21335057;21670495;21651910;22623165;21438144;21697458;21565445;21865551;21635566;21645266;21941410;21640086;21470339;22017219;22163032;22891241;21911484;21978920;22183411;22461619;21988719;22137490;15830104;22447075;22234152;22505653;22703695;22048123;22743305;22134903;22613720;23204228;23250993;23319734;23095809;22250198;23293841;23479230;22946048;23144326;23210974;21988832;22906303;23303206;22450808;22493010;22768094;22295949;22898868;22952630;23144325 5027 E7EMK6;E7EX72;F5H237;F5H2X6;F5H6P2;F5H7E8;F5H8E7;F8W951;J3KN30;Q4VKI2;Q4VKI3;Q99572 AB209709;ABBA01020152;AC069209;AC079602;AK090866;AK225163;AK290405;AK294126;AK296432;AMYH01004809;AMYH01004810;AY847298;AY847299;AY847300;AY847301;AY847302;AY847303;AY847304;BC007679;BC011913;BC121157;BC121158;BI598073;CH471054;DA274887;DA302256;DQ399293;GQ180122;JX471562;NG_011471;NM_002562;NR_033948;NR_033949;NR_033950;NR_033951;NR_033952;NR_033953;NR_033954;NR_033955;NR_033956;Y09561;Y12851;Z98941 AAH07679;AAH11913;AAI21158;AAX82087;AAX82088;AAX82089;AAX82090;AAX82091;AAX82092;AAX82093;ABD59798;ABM84383;ABM87336;ACS72266;AFU91507;BAD92946;BAF83094;BAG52241;BAH11678;BAH12350;CAA70755;CAA73360;EAW98239;EAW98240;NP_002553;Q99572 Hs.729169 1746213;2106855;2106857;2106859;2106861;2106863;2106865;2106867;2106869;2106871;2106873;2106875;2106877;2106879;2106881;2106883;2106885;2106887;2106889;2106891;2106893;2106895;2106901;2106903;2123981;2148959;2154756;2218578;5022578 D1S1423;G64572;P2RX7_4136;PG75UT0907;PG7S01;PG7S02;PG7S03;PG7S04;PG7S05;PG7S06;PG7S07;PG7S08;PG7S09;PG7S1011;PG7S12;PG7S13a;PG7S13b;PG7S3UT01;PG7S3UT0304;PG7S3UT0506;PG7S3UT1009;PG7S5UT1008;PG7S5UT1112;PG7S5UT1415;PG7S5UT2102;PG7S5UT2206;RH71408;SHGC-57922;WI-13224 MGC20089;P2X7 ATP receptor;OTTHUMP00000240217;P2X purinoceptor 7;P2X7 receptor;P2Z receptor;purinergic receptor P2X7 variant A APPROVED protein-coding 8537 03977 602566 REVIEWED 1602708 P2RY13 purinergic receptor P2Y, G-protein coupled, 13 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008] 3 3 3 q24 149456806 149460047 - 152526786 152530025 - 151044096 151047337 - 6480464 16344560;12477932;12044878;11961076;11574155;11546776;11273702;18577758;19913121;20628086;18240029;22250198 53829 Q9BPV8 AB083597;ABBA01058910;AC024886;AF178982;AF295368;AF345565;AF406692;AF411113;AK313208;AMYH01013580;BC029363;BC041116;BC066887;CH471052;CS173029;DA676457;NG_021244;NM_176894 AAH29363;AAH41116;AAH66887;AAK01864;AAK18752;AAK29068;AAL01038;AAL26484;BAB89310;BAG36024;CAJ33696;EAW78805;EAW78806;EAW78807;NP_795713;Q9BPV8 Hs.546396 1686780;2106483;2187575 D3S4238;GPR86_4097;RH91840 FKSG77;GPCR1;GPR86;GPR94;P2Y13;SP174 G protein-coupled receptor 86;G-protein coupled receptor 86;G-protein coupled receptor 94;OTTHUMP00000208577;P2Y purinoceptor 13 APPROVED protein-coding ENSG00000181631 4537 16210 606380 REVIEWED 731552 P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq, Jul 2008] X X q13 69394741 69396379 - 69478016 69479654 - 1580863;6480464 8537336;8537335;15772651;15649700;15489334;14670966;12623123;12603858;12477932;12130504;11690642;11290369;11114308;9535005;9268704;8700127;8617367;18240029;18577758;21219331;22052557;22797925;22776902 5030 P51582 ABBA01067551;AL357752;AMYH01022525;BC095503;BC096067;BC096068;BC096069;BC096070;CH471132;CQ859820;NG_013250;NM_002565;U40223;X91852;X96597 AAC50347;AAH95503;AAH96067;AAH96068;AAH96069;AAH96070;CAA62963;CAA65415;CAH25959;EAX05352;NP_002556;P51582 Hs.673854 1661785;1795072;1849733;2219422;5492489;5493025 P2RY4__5802;PMC96855P2;RH47039;RH70627;UniSTS:481244;UniSTS:483845 NRU;P2P;P2Y4;UNR OTTHUMP00000023468;P2Y purinoceptor 4;uridine nucleotide receptor APPROVED protein-coding ENSG00000186912 8542 02075 300038 REVIEWED 1347256 P2RY14 purinergic receptor P2Y, G-protein coupled, 14 The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 3 3 q24-q25.1 152412595 152478920 - 150929905 150996230 - 1580863;6480464 10753868;18690346;17088057;17016747;16475938;16263727;16257449;16109883;15829433;15489334;15481977;14559350;12902497;12842911;12695547;12559763;12477932;12369950;11524702;11273702;10704288;9295203;8011297;7584028;7584026;16820147;2834384;18240029;19454705;18577758;22673622 9934 A5JUU3;C9JAB5;Q15391 ABBA01058911;ABBA01058912;ABBA01058913;AC078816;AF456925;AK289617;AMYH01013580;BC034989;CD110153;CH471052;CS173021;D13626;EF577400;NG_021244;NM_001081455;NM_014879 AAH34989;AAL47764;ABQ52420;BAA02791;BAF82306;CAJ33692;EAW78809;EAW78810;NP_001074924;NP_055694;Q15391 Hs.2465 1337856;1655063;1729395;1773219;1793096;2121281;2127857 D3S3625;D3S3882;G54361;PMC196132P2;RH25242;SHGC-44399;STS-D13626 GPR105;KIAA0001;P2Y14 G protein coupled receptor for UDP-glucose;G protein-coupled receptor 105;G-protein coupled receptor 105;OTTHUMP00000216778;OTTHUMP00000216779;OTTHUMP00000216780;P2Y purinoceptor 14;P2Y(14) receptor;P2Y14 receptor;UDP-glucose receptor APPROVED protein-coding ENSG00000174944 16442 08820 610116 REVIEWED 1354000 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 q24-q25 152538066 152585234 - 151055376 151102544 - 633493;1580186;1580863;1580187;1580188;1580189;6480524;6480522;6480523;6480526;6480528;6480647;6480535;6480645;6480518;6480536;6480537;6480525;6480532;6480533;6480464;6482301;7240710 11196645;16194207;12897207;14662702;15933261;20665560;21841533;21652673;20136836;19028049;19692114;19295309;20431845;22028806;15483100;15304052;20398327;22010907;19822647;22483567 19530321;19525944;19334620;19237732;19132197;19106083;19056482;18836720;18800613;18787507;18755689;18726826;18577829;18485500;18278193;18213371;18175333;18004210;17995973;17803810;17707382;17337040;17127487;16840732;16837456;16804093;16769602;16581111;16405973;16236603;16185654;16181985;15968399;15886804;15869601;15795539;15665114;15602005;15514209;15489334;15464998;15284110;15203713;15187029;15142872;15099288;22275393;22440490;22610101;14717977;14645014;14644082;12912815;12668663;12623443;12606772;12578987;12560222;12477932;12080041;12044878;11502873;11502870;11104774;8554519;19913121;20473398;20628086;20691446;20589315;20873239;20930120;18240029;18577758;19012950;19229056;19531897;19552634;19576320;19578796;19740098;19914687;20031628;20063989;20068232;20126830;20162250;20379614;21071695;19783848;20630458;20599922;20492465;20695985;21216445;20966167;22528678;22574824;22916275;22740070;21231822;22704077;22079667;21937696;21524751;21153923;22159428;21497813;22647518;22652599;16344560;22273509;22746349;23140172;22701645 64805 B4E183;Q9H244 AA810452;AB052684;AB083596;ABBA01058909;AC024886;AF310685;AF313449;AF321815;AJ320495;AK292096;AK303714;AK316575;AMYH01013580;AW015793;AW976204;AY136754;BC017898;BM926255;CH471052;DA179496;DA267276;DA343254;DB306976;DC313627;NG_016019;NG_021244;NM_022788;NM_176876 AAG48944;AAH17898;AAK00948;AAL32292;AAN01280;ABM84112;ABM87505;BAB60824;BAB89309;BAF84785;BAG38164;BAG64695;CAC87144;EAW78803;EAW78804;NP_073625;NP_795345;Q9H244 Hs.591281;Hs.665544 1729373;2113728;2219420 AB062981;G54348;P2RY12__5801 ADPG-R;BDPLT8;HORK3;P2T(AC);P2Y(12)R;P2Y(AC);P2Y(ADP);P2Y(cyc);P2Y12;SP1999 ADP-glucose receptor;G-protein coupled receptor SP1999;Gi-coupled ADP receptor HORK3;OTTHUMP00000216783;P2Y purinoceptor 12;P2Y12 platelet ADP receptor;purinergic receptor P2RY12;putative G-protein coupled receptor APPROVED protein-coding ENSG00000169313 18124 02743 600515;609821 REVIEWED 5686926 P4HA2-AS1 P4HA2 antisense RNA 1 q31.1 100861518 AC063976;BG772701 Hs.519568 1661869;1996618;2170470 REN69219;RH47156;WI-14188 APPROVED miscrna 43560 1352486 P2RY2 purinergic receptor P2Y, G-protein coupled, 2 The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013] 11 11 q13.5-q14.1 72606992 72625045 + 72929344 72947397 + 1580863;2315809;2316687;6480464 19303093;15687250 17137217;16741950;16545868;16543499;16495779;16311903;16186116;15908695;15778502;15590415;15489334;15175347;14670955;14645014;14613890;12880424;12787128;12714597;12691958;12603858;12477932;11690642;11331301;10770202;9535005;9489506;9286708;9211988;7779087;8159738;19118095;18568944;18506388;18475022;18434089;17609252;17599409;17452627;17186500;17170310;8643996;8248130;7809171;18577758;18240029;19634190;19710694;19734210;19735076;19763137;19797825;19808895;19836435;19996104;20022380;20056178;20064929;20427708;16754659;20630102;19913121;20089844;20628086;20880147;23088987;21414662;21859844;21651910;21832049;21652710;21356271;21890473;22993317;22754043;22718344;22753942;22773251;22521508;14702039;17302398;19419204;19900397;23462325 5029 P41231 ABBA01017524;AK094727;AK313942;AMYH01003798;AMYH01003799;AP002761;AY136753;BC012104;BC028135;BX641058;CH471076;FJ599699;FJ599700;NM_002564;NM_176071;NM_176072;U07225 AAC04923;AAH12104;AAH28135;AAN01279;ABM83184;ABM86386;ACS66693;ACS66694;BAG36660;EAW74882;EAW74883;EAW74884;NP_002555;NP_788085;NP_788086;P41231 Hs.339;Hs.572077 1792694;1795070;2134624 D11S4331;PMC156657P2;PMC96855P1 HP2U;MGC20088;MGC40010;P2RU1;P2U;P2U1;P2UR;P2Y2;P2Y2R ATP receptor;OTTHUMP00000237494;OTTHUMP00000237495;OTTHUMP00000237496;P2U nucleotide receptor;P2U purinoceptor 1;P2U receptor 1;P2Y purinoceptor 2;purinergic receptor P2Y2;purinoceptor P2Y2 APPROVED protein-coding ENSG00000175591 8541 02499 600041 REVIEWED 736435 P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6 The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013] 11 11 q13.5 72653218 72687312 + 72975570 73009664 + 1580863;6480464 8670200;19124756;19008857;22249129;18250478;17762175;16543499;16322472;15796906;15498874;15489334;12716436;12691958;12623123;12477932;12464620;11788430;11690642;11114308;9542531;9412455;9286708;9268704;17971163;18240029;19011163;19735076;20379614;16754659;21268712;21173118;21388279;21724990;22102722;21898410;22558990;8700127 5031 F5GX90;F5GYF3;F5H7H9;Q15077 ABBA01017522;AF007891;AF007892;AF007893;AF218005;AF498920;AL520218;AL525099;AMYH01003801;AP002761;AX775903;BC000571;BC009391;BQ718871;BT006771;BX337204;BX381745;BX397649;CH471076;DR004482;DR006998;HY271000;NM_001277204;NM_001277205;NM_001277206;NM_001277207;NM_001277208;NM_004154;NM_176796;NM_176797;NM_176798;U52464;X97058 AAB03572;AAB80712;AAB80713;AAG17247;AAH00571;AAH09391;AAM18129;AAP35417;ABM81686;ABM84534;ABM86072;CAA65770;CAE11651;EAW74886;EAW74887;EAW74888;EAW74889;EAW74890;NP_001264133;NP_001264134;NP_001264135;NP_001264136;NP_001264137;NP_004145;NP_789766;NP_789767;NP_789768;Q15077 Hs.16362 1674826;1782346;1782358;1792696;2165063;2179744 D11S353;PMC156657P3;RH18466;RH45448;SHGC-145961;SHGC-149374 MGC15335;P2Y6 G-coupled nucleotide receptor;OTTHUMP00000237497;OTTHUMP00000237500;OTTHUMP00000237501;OTTHUMP00000237502;OTTHUMP00000237504;OTTHUMP00000237505;OTTHUMP00000237506;P2 purinoceptor;P2Y purinoceptor 6;P2Y6 receptor APPROVED protein-coding ENSG00000171631 8543 03906 602451 REVIEWED 1350225 P2RY8 purinergic receptor P2Y, G-protein coupled, 8 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008] X X;Y X;Y p22.33; Yp11.3 5862467 5935015 - 1541465 1616000 - 1531465 1606037 - 1580863;6480464 17554380;17487742;15772651;15489334;15466006;14702039;12477932;11004484;20378752;23091296;22484421;21890473;22505724 286530 Q86VZ1 ABBA01055717;ABBA01055718;ABBA01055719;ABBA01055720;ABBA01055721;ABBA01055722;ABBA01055723;ABBA01055724;AI476104;AI494365;AK092956;AL683870;AL691415;AL833184;AMYH01021998;AMYH01021999;AMYH01022000;BC012792;BC043610;BE245848;CH471074;NG_013252;NM_178129 AAH43610;EAW98683;NP_835230;Q86VZ1 Hs.111377 1651986;1702810;1730779;1748461;2158852;5127327;7184745 DXYS139;DXYS140;DXYS141;GDB:312946;L77270;SHGC-64134 MGC50878;P2Y8 G-protein coupled purinergic receptor P2Y8;OTTHUMP00000022830;P2Y purinoceptor 8 APPROVED protein-coding ENSG00000182162 15524 06671 300525 REVIEWED 1348998 PA2G4P1 proliferation-associated 2G4 pseudogene 1 X X X q24 120466517 120468134 - 119886130 119887938 - 120002187 120003804 - 9847074;9345902 389884 ABBA01036074;AC008162;AMYH01022919;NG_005879 PA2G4P APPROVED pseudo 8551 INFERRED 1352283 PA2G4P2 proliferation-associated 2G4 pseudogene 2 20 20 20 p12.1 12430851 12432364 + 12308604 12310003 + 12360658 12362171 + 9345902;23192594 170533 ABBA01053950;AL136460;AMYH01011717;NG_001046 1682605;1685688 RH48706;RH79880 PA2G4L5;bA102J14.2 pseudo 16531 INFERRED 1605750 PA2G4P3 proliferation-associated 2G4 pseudogene 3 18 18 18 q11.2 21842608 21844186 - 23286110 23287878 - 25032202 25033780 - 9345902 619212 ABBA01022560;AC068408;AMYH01008906;NG_005881 HsT2542;PA2G4L4 pseudo 31731 INFERRED 1604410 PA2G4P4 proliferation-associated 2G4 pseudogene 4 3 3 3 q25.31 154950637 154953387 - 158009754 158012504 - 156527060 156529810 - 9345902 647033 ABBA01058837;AC106708;AK025367;AMYH01013600;NR_003284 Hs.573018 1682605;1685688;1791272 MARC_9801-9802:996688619:1;RH48706;RH79880 PA2G4L1 pseudo 32217 PROVISIONAL 1604918 PA2G4P5 proliferation-associated 2G4 pseudogene 5 6 6 6 q21 113678301 113680502 - 113043824 113046125 - 112937031 112939232 - 9345902 389424 ABBA01026077;AL357514;AL358942;AMYH01016598;NG_005878 PA2G4L2 pseudo 32218 INFERRED 1603420 PA2G4P6 proliferation-associated 2G4 pseudogene 6 9 9 9 q22.2 62647453 62649781 + 91254077 91256599 - 92064352 92066679 + 9345902 646083 ABBA01015390;AL590233;AMYH01021495;NG_005882 PA2G4L3 pseudo 32219 INFERRED 731788 P4HA1 prolyl 4-hydroxylase, alpha polypeptide I This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 10 10 q21.3-q23.1 74436981 74526630 - 74766975 74856732 - 1580863;6480464;6907045 2543975;18029348;16885164;16877351;16837461;21145461;16488890;16464861;16344560;15489334;15369792;15164054;15028279;12477932;9417920;9211872;8125298;7961714;2556027;16385451;19890397;20379614;23022409;17314511;19928837;18457437;21139048;21903422;20305087;19322201;17110338;23246001;23423382 5033 P13674;Q5VSQ6 AA780802;ABBA01020340;ABBA01020341;ABBA01020342;ABBA01020343;ABBA01020344;AI061083;AK222960;AK312593;AL702003;AL731563;AMYH01002824;AMYH01002825;AMYH01002826;BC034998;CD013929;CD013930;CH471083;DB030709;M24486;M24487;NM_000917;NM_001017962;NM_001142595;NM_001142596;U14620 AAA36534;AAA36535;AAA59068;AAA59069;AAH34998;ABM82595;ABM85781;BAD96680;EAW54467;EAW54468;EAW54469;EAW54470;NP_000908;NP_001017962;NP_001136067;NP_001136068;P13674 Hs.500047;Hs.593005 1656608;1745629;1848625;2109619;2161935 D10S2287;GDB:626407;P4HA1__7042;RH17681;RH78867 P4HA C-P4Halpha(I);OTTHUMP00000019793;OTTHUMP00000019794;collagen prolyl 4-hydroxylase alpha(I);procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I;procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1;prolyl 4-hydroxylase subunit alpha-1 APPROVED protein-coding ENSG00000122884 8546 08901 176710 REVIEWED 1346978 P4HA3 prolyl 4-hydroxylase, alpha polypeptide III This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 71284495 71329490 - 73655350 73700347 - 73977702 74022699 - 731224;1580863;6480464;6907045 14500733 16885164;12874193;12477932;20379614 283208 B4DUD3;E9PM97;H0YCC3;Q7Z4N8 ABBA01017493;AK300598;AL833965;AMYH01003812;AP001085;AY313448;AY327887;AY358521;BC040582;BC089446;BC117333;BC126170;CH471076;NM_182904 AAH89446;AAI17334;AAI26171;AAP97874;AAQ87603;AAQ88885;BAG62295;CAI46215;EAW74934;EAW74935;EAW74936;NP_878907;Q7Z4N8 Hs.660541 4-PH alpha-3;C-P4H alpha III;OTTHUMP00000229096;OTTHUMP00000229098;collagen prolyl 4-hydroxylase alpha(III);procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III;procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3;prolyl 4-hydroxylase subunit alpha-3 APPROVED protein-coding ENSG00000149380 30135 16413 608987 REVIEWED 1320142 P4HA2 prolyl 4-hydroxylase, alpha polypeptide II This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 5 5 5 q31 127658410 127693660 - 131556202 131591455 - 131528303 131563556 - 1580863;6480464;6907045 9211872;14667819;19131452;17213842;16917063;16885164;16877351;16344560;15489334;14500733;12824157;12477932;11606192;7753822;19615732;21963094;23000965;23423382;20628624;20000738;18457437;21859152;21987572;22412388;21139048;21890473;21906983;22813596;22190034 8974 A8MXE0;C9JCP0;C9JFJ1;C9JIG4;C9JN43;C9JX45;E7ENX0;E7EPI9;E7ERI1;O15460;Q05DA4 ABBA01068811;ABBA01068812;ABBA01068813;AC034220;AC063976;AJ314859;AMYH01015612;AMYH01015613;AU117989;AY358970;BC017062;BC025960;BC035813;BI758477;BX647924;CH471062;DA544450;NM_001017973;NM_001017974;NM_001142598;NM_001142599;NM_004199;U90441 AAB71339;AAH17062;AAH35813;AAQ89329;ABM83357;ABW03320;CAC85688;CAC85689;CAI46066;EAW62341;EAW62342;EAW62343;EAW62344;EAW62345;EAW62346;EAW62347;EAW62348;NP_001017973;NP_001017974;NP_001136070;NP_001136071;NP_004190;O15460 Hs.519568 1661869;1780510;1799430;1800084;1800140;1800180;1800242;1800544;1800842;1801064;1801116;1801312;1808314;1809954;1810602;1810756;1811208;1811436;1812150;1812228;1812720;1812790;1813070;1814116;1814416;1814672;1815470;1815612;1816364;1816684;1816972;1817136;1817910;1825326;1825424;1828130;1830050;1838092;1838352;1838918;1839844;1996616;1996618;1996620;1996622;1996624;1996626;1996628;1996630;1996632;1996634;1996636;1996638;1996640;1996642;1996644;1996646;1996648;1996650;1996652;1996654;1996656;1996658;1996660;1996662;1996664;1996666;1996668;1996670;1996672;1996674;1996676;1996678;1996680;1996682;1996684;1996686;1996688;1996690;1996692;1996694;1996696;1996698;1996700;1996702;1996704;1996706;1996708;1996710;1996712;1996714;1996716;1996718;1996720;1996722;1996724;1996726;1996728;1996730;1996732;1996734;1996736;1996738;1996740;1996742;1996744;1996746;1996748;1996750;1996752;1996754;1996756;1996758;1996760;1996762;1996764;1996766;1996768;1996770;1996772;1996774;1996776;1996778;1996780;1996782;1996784;1996786;1996788;1996790;1996792;1996794;1996796;1996798;1996800;1996802;1996804;1996806;1996808;1996810;1996812;1996814;1996816;1996818;1996820;1996822;1996824;1996826;1996828;1996830;1996832;1996834;1996836;1996838;1996840;1996842;1996844;1996846;1996848;1996850;1996852;1996854;1996856;1996858;1996860;1996862;1996864;1996866;1996868;1996870;1996872;1996874;1996876;1996878;1996880;1996882;1996884;1996886;1996888;1996890;1996892;1996894;1996896;1996898;1996900;1996902;1996904;1996906;1996908;1996910;1996912;1996914;1996916;1996918;1996920;1996922;1996924;1996926;1996928;1996930;1996932;1996934;1996936;1996938;1996940;1996942;1996944;1996946;2095714;2095716;2095718;2095720;2095722;2095724;2095726;2095728;2095730;2095732;2095734;2095736;2095738;2095740;2095742;2095744;2095746;2095748;2095750;2095752;2095754;2095756;2095758;2095760;2095762;2095764;2095766;2130098;2163722;2170470;2219424 ECD00566;ECD00897;ECD00926;ECD00947;ECD00979;ECD01132;ECD01284;ECD01400;ECD01427;ECD01528;ECD05138;ECD05969;ECD06294;ECD06373;ECD06602;ECD06716;ECD07080;ECD07121;ECD07371;ECD07406;ECD07554;ECD08087;ECD08237;ECD08366;ECD08771;ECD08843;ECD09224;ECD09385;ECD09535;ECD09618;ECD10009;ECD13769;ECD13819;ECD15188;ECD16158;ECD20217;ECD20350;ECD20638;ECD21105;P4HA2__5805;REN69218;REN69219;REN69220;REN69221;REN69222;REN69223;REN69224;REN69225;REN69226;REN69227;REN69228;REN69229;REN69230;REN69231;REN69232;REN69233;REN69234;REN69235;REN69236;REN69237;REN69238;REN69239;REN69240;REN69241;REN69242;REN69243;REN69244;REN69245;REN69246;REN69247;REN69248;REN69249;REN69250;REN69251;REN69252;REN69253;REN69254;REN69255;REN69256;REN69257;REN69258;REN69259;REN69260;REN69261;REN69262;REN69263;REN69264;REN69265;REN69266;REN69267;REN69268;REN69269;REN69270;REN69271;REN69272;REN69273;REN69274;REN69275;REN69276;REN69277;REN69278;REN69279;REN69280;REN69281;REN69282;REN69283;REN69284;REN69285;REN69286;REN69287;REN69288;REN69289;REN69290;REN69291;REN69292;REN69293;REN69294;REN69295;REN69296;REN69297;REN69298;REN69299;REN69300;REN69301;REN69302;REN69303;REN69304;REN69305;REN69306;REN69307;REN69308;REN69309;REN69310;REN69311;REN69312;REN69313;REN69314;REN69315;REN69316;REN69317;REN69318;REN69319;REN69320;REN69321;REN69322;REN69323;REN69324;REN69325;REN69326;REN69327;REN69328;REN69329;REN69330;REN69331;REN69332;REN69333;REN69334;REN69335;REN69336;REN69337;REN69338;REN69339;REN69340;REN69341;REN69342;REN69343;REN69344;REN69345;REN69346;REN69347;REN69348;REN69349;REN69350;REN69351;REN69352;REN69353;REN69354;REN69355;REN69356;REN69357;REN69358;REN69359;REN69360;REN69361;REN69362;REN69363;REN69364;REN69365;REN69366;REN69367;REN69368;REN69369;REN69370;REN69371;REN69372;REN69373;REN69374;REN69375;REN69376;REN69377;REN69378;REN69379;REN69380;REN69381;REN69382;REN69383;RH18238;RH18422;RH47156;WI-14188;bac5078S;stSG601097;stSG601098;stSG601099;stSG601100;stSG601101;stSG601102;stSG601103;stSG601104;stSG601105;stSG601106;stSG601107;stSG601108;stSG601110;stSG601111;stSG601112;stSG601113;stSG601114;stSG601115;stSG601116;stSG601117;stSG601118;stSG601119;stSG601120;stSG601121;stSG601122;stSG601123;stSG601124 4-PH alpha 2;4-PH alpha-2;C-P4Halpha(II);OTTHUMP00000065966;OTTHUMP00000065967;OTTHUMP00000065968;OTTHUMP00000065969;collagen prolyl 4-hydroxylase alpha(II);procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II;procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2;prolyl 4-hydroxylase subunit alpha-2 APPROVED protein-coding ENSG00000072682 8547 11862 600608 REVIEWED 1607023 P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 48981987 48999268 + 49002345 49019586 + 49027341 49044582 + 6480464 12163023;17726031;16154531;15489334;15456751;14702039;12788921;12477932;11257307;23284715;23314748;21906983 54681 H7C153;Q9NXG6 ABBA01024620;ABBA01024621;AC137630;AI079878;AK000269;AL713728;AMYH01013154;AW072069;AY198406;BC000580;BC011710;BC018731;BC047566;BC060321;CH471055;NM_177938;NM_177939 AAH00580;AAH11710;AAH47566;AAH60321;AAO43431;BAA91045;CAD28518;EAW64934;EAW64935;EAW64936;EAW64937;EAW64938;EAW64939;EAW64940;NP_808807;NP_808808;Q9NXG6 Hs.654944 1777870;2107495;2112614;2176084;7186491 D3S4369;PH-4__6983;SHGC-76942;STS-AA001886 EGLN4;HIFPH4;P4H-TM;PH-4;PH4;PHD4 HIF-PH4;HIF-prolyl hydroxylase 4;HPH-4;OTTHUMP00000082685;OTTHUMP00000082686;P4H with transmembrane domain;Prolyl hydroxlase domain-containing 4;hypoxia inducible factor prolyl 4 hydroxylase;hypoxia-inducible factor prolyl 4-hydroxylase;hypoxia-inducible factor prolyl hydroxylase 4;proline 4-hydroxylase;transmembrane prolyl 4-hydroxylase APPROVED protein-coding ENSG00000178467 28858 17842 614584 REVIEWED 1346773 PABPC1L poly(A) binding protein, cytoplasmic 1-like 20 20 20 40247341 40276594 + 42972117 43001376 + 43538703 43567962 + 6480464;6907045 18716053;14702039;12477932;11780052;11549316;18483763;21139048;21906983;22505724;22797925 80336 F2Z2Z0;H0Y386;Q4VXT4;Q4VXT5;Q4VXT6;Q4VXT8;Q4VXU2;Q4VY17 ABBA01052655;AK021902;AK026760;AK055371;AK124047;AL008725;AL109839;AMYH01011935;AMYH01011936;BC039151;BC068104;CH471077;EU190483;NM_001124756 ABY64766;EAW75892;NP_001118228;Q4VXU2 Hs.641481 1659086;1665096;1735002;2143258;2155304 AL022259;D20S1113;D20S528E;SHGC-51816;SHGC-6697 C20orf119;FLJ11840;FLJ30809;FLJ42053;PABPC1L1;dJ1069P2.3;ePAB OTTHUMP00000063224;polyadenylate-binding protein 1-like protein-coding ENSG00000101104 15797 PROVISIONAL 733481 P4HB prolyl 4-hydroxylase, beta polypeptide This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008] 17 17 q25 77394323 77411833 - 79801034 79818544 - 1580863;6480464;6907045 22536838;14702039;14592831;14500733;12874193;12665801;12643545;12485997;12477932;12475965;12218052;12218051;12095988;11847130;11790298;11707400;11257307;11181151;10636893;10436013;10383197;10329688;9399589;9150948;8672469;8580850;7753822;17055437;17353931;2846539;15308636;12493773;3034602;14718574;17081065;16847061;16344560;16303743;16169070;15952740;15695804;15644496;15611098;15590633;15489334;15358778;15158710;14871477;21145461;21319273;8111381;3611107;3467900;3342239;3032969;2079031;1699755;1667665;1597478;1559965;1339453;1286669;15146195;15324660;1677563;18029348;19890397;19913121;20628086;20668226;22939629;23141538;21299467;20000738;22863883;21373848;17620599;22586326;19471022;18781797;20360068;21081666;21139048;21693764;21890473;21906983;22079093;21628590;17301129;22174317;22190034;22268729;22337587 5034 F5H8J2;H0Y3Z3;H7BZ94;I3L0S0;I3L1Y5;I3L312;I3L398;I3L3P5;I3L3U6;I3L4M2;I3L514;I3NI03;P07237 AB062434;ABBA01019648;AC145207;AC174470;AK075503;AK095938;AK128783;AK296206;AK297081;AK297967;AK298005;AK300561;AK308600;AK315631;AMYH01008721;AU131354;BC010859;BC014504;BC018801;BC029617;BC071892;BX353203;CA412209;CH471099;DB466371;J02783;M22806;NM_000918;S37207;X05130;X07077 AAA61169;AAB22262;AAC13652;AAH10859;AAH14504;AAH29617;AAH71892;ADZ15421;BAB93497;BAG37999;BAG53171;BAG54732;BAG58932;BAG59598;BAG60277;BAG60311;BAG62267;CAA28775;CAA30112;EAW89690;EAW89691;EAW89692;EAW89693;EAW89694;EAW89695;EAW89696;NP_000909;P07237 Hs.464336 1690240;1741209;1741379;1743141;2185511;5491396;5491613 GDB:178579;GDB:180947;GDB:271296;MARC_24372-24373:1030120998:1;P4HB;RH47036;RH80067 DSI;ERBA2L;GIT;P4Hbeta;PDI;PDIA1;PHDB;PO4DB;PO4HB;PROHB OTTHUMP00000196834;cellular thyroid hormone-binding protein;collagen prolyl 4-hydroxylase beta;glutathione-insulin transhydrogenase;p55;procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide;prolyl 4-hydroxylase subunit beta;protein disulfide isomerase family A, member 1;protein disulfide isomerase-associated 1;protein disulfide isomerase/oxidoreductase;protein disulfide-isomerase;protocollagen hydroxylase;thyroid hormone-binding protein p55;v-erb-a avian erythroblastic leukemia viral oncogene homolog 2-like APPROVED protein-coding ENSG00000185624 8548 07181 176790 REVIEWED 1350393 PABPC1P1 poly(A) binding protein, cytoplasmic 1 pseudogene 1 4 4 4 p14 40414305 40415246 + 39651451 39652392 + 39975056 39975997 + 10543404;9880551;20508642 26980 ABBA01004149;AC098591;AMYH01014122;NG_001268;NG_021172;U64662 1658137;1711466 G49189;RH71247 PABP1;PABPCP1 APPROVED pseudo 8558 INFERRED 3231912 PABPC1P12 poly(A) binding protein, cytoplasmic 1 pseudogene 12 10 10 p11.1 38965233 38971222 + 38929126 38931213 + 100129604 AL133173;AMYH01002273;NG_022171 pseudo 37994 INFERRED 3418558 PABPC1P13 poly(A) binding protein, cytoplasmic 1 pseudogene 13 16 16 p11.2 32357450 32360594 - 32449949 32453093 - 644758 AC138915;AMYH01007527;NG_006145 pseudo 37995 INFERRED 3003934 PABPC1P11 poly(A) binding protein, cytoplasmic 1 pseudogene 11 9 9 17517967 17519200 - 17589461 17590694 - 20379614 100421058 ABBA01065235;AL133214;AMYH01019258;NG_021608 pseudo 37993 INFERRED 1347145 PABPC1P3 poly(A) binding protein, cytoplasmic 1 pseudogene 3 X X X q13.2 74085885 74086848 - 73719144 73720107 - 73802419 73803382 - 10543404;9880551 26978 ABBA01059539;AL513007;AMYH01022615;NG_001266;NG_013258;U64661 1711468;1770014;1770016;2176145 A006C14;G20696;G49191;WI-15437 PABP3;PABPCP3 APPROVED pseudo 8560 INFERRED 1349754 PABPC1P4 poly(A) binding protein, cytoplasmic 1 pseudogene 4 12 12 12 q14.2 63880531 63883013 + 62501990 62504073 + 64215524 64218006 + 8432538 341315 ABBA01026619;AC084357;AMYH01004541;NG_008823 PABPCP5;PABPL2 APPROVED pseudo 8563 604681 INFERRED 1603498 PABPC1L2A poly(A) binding protein, cytoplasmic 1-like 2A X X X q13.2 72575847 72577973 - 72213840 72216076 - 72297177 72299351 - 6907045 12477932 340529 Q5JQF8 ABBA01059717;AL662864;AMYH01022608;AY730282;NM_001012977 NP_001012995;Q5JQF8 Hs.450320 5493741 UniSTS:494461 MGC168104;PABPC1L2B;RBM32A;RP11-493K23.3 OTTHUMP00000023563;RNA binding motif protein 32A;RNA-binding motif protein 32;RNA-binding protein 32;polyadenylate-binding protein 1-like 2 protein-coding ENSG00000186288 27989 15178 VALIDATED 2816409 PABPC1P5 poly(A) binding protein, cytoplasmic 1 pseudogene 5 Y Y q11.21 11952079 11952785 + 13492079 13492785 + 100131374 AC134882;NG_022964 pseudo 37985 INFERRED 3436168 PABPC1P6 poly(A) binding protein, cytoplasmic 1 pseudogene 6 2 2 p11.1 91425980 91431371 + 92066164 92068229 + 100128696 ABBA01048752;AC127391;AMYH01010666;NG_023006 pseudo 37986 INFERRED 3539571 PABPC1P7 poly(A) binding protein, cytoplasmic 1 pseudogene 7 4 4 4 q24 101117504 101119447 + 104036013 104038847 + 103817886 103819829 + 9847074 100128183 ABBA01063703;AC083826;AMYH01014432;NG_008662;NG_011865 pseudo 37987 INFERRED 3322043 PABPC1P8 poly(A) binding protein, cytoplasmic 1 pseudogene 8 10 10 q11.21 42095768 42101166 - 42775177 42777243 - 100132766 ABBA01049986;AL031601;AMYH01002282;NG_023001 pseudo 37988 INFERRED 1602098 PAAF1 proteasomal ATPase-associated factor 1 This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] 11 11 11 q13.4 70894954 70945693 + 73265681 73316427 + 73587744 73638781 + 6480464 17353931;17317272;17289585;15831487;15489334;14702039;12477932;8125298;19490896;17207965;19615732;22863883;19193609;21900206;22316138;19446322;20471945;22194858;22275368;22691779;22797925 80227 F5H0C4;F5H0F7;F5H103;F5H3E9;F5H3I1;F5H5D4;H0YGB1;Q9HAB6 ABBA01017500;ABBA01017501;ABBA01017502;ABBA01017503;AF087895;AK021910;AK222501;AK225520;AK298258;AK309133;AK316394;AMYH01003811;AP002770;BC006142;BC021541;BC028628;BC028677;BC045774;CD243380;CH471076;DC354686;NM_001267803;NM_001267804;NM_001267805;NM_001267806;NM_025155 AAH06142;AAH21541;AAH28628;AAP97194;ADQ32653;BAB13933;BAD96221;BAG60522;BAH14765;EAW74917;EAW74918;EAW74919;NP_001254732;NP_001254733;NP_001254734;NP_001254735;NP_079431;Q9BRP4 Hs.525017 1660357;1715473;2129078;2150214;2174820;5015861;5109683;7185938;7186035 D10S16;D11S4615;D9S994E;G17596;RH120902;RH45729;STS-N25295 FLJ11848;PAAF;Rpn14;WDR71 OTTHUMP00000237778;OTTHUMP00000237779;OTTHUMP00000237782;OTTHUMP00000237784;OTTHUMP00000237785;OTTHUMP00000237788;WD repeat domain 71;WD repeat-containing protein 71;proteasomal ATPase-associated factor 1 APPROVED protein-coding ENSG00000175575 25687 07761 REVIEWED 3051038 PABPC1P9 poly(A) binding protein, cytoplasmic 1 pseudogene 9 22 22 22 q11.1 577798 580274 + 15284696 15286763 + 16904682 16907158 + 100130338 ABBA01001472;AMYH01012414;AP000544;AP000545;NG_011864 pseudo 37991 INFERRED 2290032 PABPC4L poly(A) binding protein, cytoplasmic 4-like 4 4 4 q28.3 132457056 132462471 - 135336938 135342353 - 135117488 135122903 - 6480464;6907045 11181995;21139048;21906983 132430 J3KTH5;P0CB38 ABBA01044875;AC015631;AMYH01014545;AY672099;BX648831;CH471056;DR005318;NM_001114734 EAX05149;NP_001108206;P0CB38 Hs.49889 1684276;1714263 RH119910;RH91325 DKFZp686J06116 PABP-4-like;polyadenylate-binding protein 4-like protein-coding ENSG00000254535 31955 VALIDATED 1354307 PA2G4 proliferation-associated 2G4, 38kDa This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008] 12 12 q13.2 54784370 54793961 + 56498103 56507694 + 1580863;6480464 11268000;11325528;15064750;15231747;15583694;16254079;17353931;15073182;7556453;19037095;18852121;18355957;17951246;17768350;17765895;17641068;17316401;17295834;17081983;16964243;16832058;16642037;16631606;16396631;15994225;15635413;15489334;12682367;12477932;12429849;12165860;11790298;11708806;10797306;10682683;9345902;8889548;15896331;10608806;9565586;19946338;21319273;16236267;19615732;20048076;20379846;18029348;20211142;20562859;21098709;21085677;22939629;21145366;21965718;20360068;21081666;21794029;21930127;18781797;21139048;21890473;21906983;21110914;21044950;22863883;22990118;18337751;19738201;21963094;22623428;22951725;23000965;23246001;21853274;22053931;22505724;22944692;18850631;23110497 5036 F8VR77;F8VZ69;F8W0A3;Q9UQ80 ABBA01008405;AC034102;AF104670;AK291796;AMYH01004500;BC001951;BC007561;BC019222;BC032111;BC069786;BC072007;BU683753;CH471054;NM_006191;U50137;U59435;U87954 AAA91484;AAB91536;AAD00646;AAD05561;AAH01951;AAH07561;AAH19222;AAH32111;AAH69786;AAH72007;ABM84372;ABM87750;BAF84485;EAW96884;EAW96885;NP_006182;Q9UQ80 Hs.524498;Hs.745109 1643735;1676534;1682605;1685688;1739387;1791272;1847887;2153742 D12S1388E;MARC_9801-9802:996688619:1;RH48706;RH79880;RH80204;RK1196_1197;STS-R87726;WI-16415 EBP1;HG4-1;p38-2G4 ErbB-3 binding protein 1;ErbB3-binding protein Ebp1;OTTHUMP00000243116;OTTHUMP00000243117;OTTHUMP00000243118;OTTHUMP00000243361;cell cycle protein p38-2G4 homolog;erbB3-binding protein 1;proliferation-associated protein 2G4 APPROVED protein-coding ENSG00000170515 8550 03685 602145 REVIEWED 1346024 PABPCP4 poly(A) binding protein, cytoplasmic, pseudogene 4 10543404 26977 8561 1346023 PABPL1 poly(A) binding protein-like 1 285314 Q9NTZ0 8562 173865 1642212 PABPC1L2B poly(A) binding protein, cytoplasmic 1-like 2B X X X q13.2 72580392 72582591 - 72140077 72142276 + 72223352 72225551 + 6480464;6907045 12477932 645974 Q5JQF8 ABBA01059727;AC234776;AL662864;AMYH01022607;BC041956;BC136492;NM_001042506 AAH41956;AAI36493;NP_001035971;Q5JQF8 Hs.567854 5493741 UniSTS:494461 MGC168104;PABPC1L2A;RBM32B;RP11-493K23.2 OTTHUMP00000023562;RNA binding motif protein 32B;RNA-binding motif protein 32;RNA-binding protein 32;polyadenylate-binding protein 1-like 2 protein-coding ENSG00000184388 31852 VALIDATED 1349848 PABPC1 poly(A) binding protein, cytoplasmic 1 This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010] 8 8 q22.2-q23 101784320 101803491 - 101715144 101734315 - 1580863;6480464;6907045 2885805;15663938;11997512;9582337;12588972;18957126;18799579;18642007;18632855;18467502;18321554;18305028;18230761;17785442;17595167;17212783;17150895;16869712;16782705;16716377;16465428;16356927;16332685;15831480;15782174;15592455;15489334;15314026;14739600;14702039;12565831;12489690;12477932;12388589;11991638;11850402;11704675;11438674;11328870;11274152;11172725;11051545;10543404;10499800;10358005;10205060;9880551;9857202;9548260;8657127;22431630;11287654;14685257;17267499;21145461;8057425;7908267;16703665;16594896;18056425;12723973;14583602;15082755;17353931;14559993;21521633;20573819;20980505;20595394;12844354;15630022;10373504;11591653;12086624;15121898;15324660;16556936;16601676;16804161;17220478;17289661;17643375;19193790;19369421;19934229;19956697;20085707;20096703;20098421;20181956;20544796;16522924;19454010;21063388;20009508;20696395;16055720;16293633;21098120;18447585;20418951;18256688;19417104;21145460;21182205;22863883;23041282;22907758;22939629;21539808;15303970;19596686;20360068;21081666;21940797;16196087;19135240;20000738;18781797;21883093;21139048;21890473;21906983;22004688;22022268;21989405;17620599;19531213;19542561;20221403;22446626;22586326;21252943;17361185;19322201;21628590;18029348;23077296;17203973;18779327;18729074;22053931;22174317;22268729;22505724;22837200 26986 E5RFD8;E5RGC4;E5RGH3;E5RH24;E5RHG7;E5RJB9;E5RJM8;E7EQV3;E7ERJ7;H0YAP2;H0YAR2;H0YAS6;H0YAS7;H0YAW6;H0YB75;H0YB86;H0YBN4;H0YC10;P11940 ABBA01037582;AK095194;AK130523;AK298990;AK303120;AL135187;AMYH01018929;AP001205;BC015958;BC023217;BC023520;BC041863;CH471060;HI179042;NG_027520;NM_002568;U68104;Y00345;Z48501 AAD08718;AAH15958;AAH23520;ABM84434;ABM87499;BAG53005;BAG61082;BAG64226;CAA68428;CAA88401;CBX53830;EAW91814;EAW91815;EAW91816;EAW91817;EAW91818;EAW91819;EAW91820;EAW91821;NP_002559;P11940 Hs.387804 1668244;1711458;1744785;1767447;2176991;2189337;2190741;5015649 D13S1095E;G49185;GDB:568589;MARC_1283-1284:991931128:1;RH68348;SHGC-30876;STS-R77214;UniSTS:265534 PAB1;PABP;PABP1;PABPC2;PABPL1 OTTHUMP00000227462;OTTHUMP00000227463;OTTHUMP00000227464;PABP-1;poly(A) binding protein, cytoplasmic 2;poly(A)-binding protein 1;polyadenylate-binding protein 1 APPROVED protein-coding ENSG00000070756 8554 05247 604679 REVIEWED 1344422 PABX pseudoautosomal boundary region, X-linked 5043 8566 1346911 PABY pseudoautosomal boundary region, Y-linked 5044 8567 1344918 PABPC1P2 poly(A) binding protein, cytoplasmic 1 pseudogene 2 2 2 2 q22.3 141059560 141063492 + 147061544 147063576 + 147344625 147348558 + 6480464 15489334;14702039;12477932;11890856;11328870;11003790;10543404;9880551 728773 ABBA01028033;AC093113;AF132027;AK292357;AMYH01011152;BC033032;BC068242;NR_026904;U60801 BAF85046 Hs.334462 1711464;5015961 D15S1477;G49188 MGC51329;PABP2;PABP4;PABPCP2;PABPCP4 APPROVED pseudo 8559 PROVISIONAL 3078328 PABPN1L poly(A) binding protein, nuclear 1-like (cytoplasmic) 16 16 16 q24.3 73996625 74001605 - 87455535 87460515 - 88929746 88933068 - 6480464;6907045 12477932;15083517;15380618;18483763 390748 A6NDY0;B6RF28;C9JEK9 ABBA01013588;AC092384;AMYH01007916;BC130001;BC130002;EU190484;NM_001080487 A6NDY0;AAI30002;AAI30003;AAI48674;AAI56596;ABY64767;NP_001073956 Hs.730522 1847445 STS-AA035228 PABPNL1;ePABP2 OTTHUMP00000242978;OTTHUMP00000242979;OTTHUMP00000242980;ePABP-2;embryonic poly(A) binding protein 2;embryonic poly(A)-binding protein 2;embryonic poly(A)-binding protein type II;embryonic polyadenylate-binding protein 2;poly(A)-binding protein nuclear-like 1 protein-coding ENSG00000205022 37237 VALIDATED 1343398 PABPC3 poly(A) binding protein, cytoplasmic 3 Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002] 13 13 13 q12-q13 6733832 6736261 + 24568276 24570705 + 25670276 25672705 + 1580863;6480464;6907045 11328870;16201836;15489334;12477932;11230166;10543404;10358005;8432538;17267499;16226712;21832049;17620599;21906983;18029348;19956697;22505724 5042 H3BNY3;H3BPI5;Q5VX58;Q9H361 AA954581;ABBA01007899;AF132026;AK313336;AL136900;AL359757;AMYH01004978;BC027617;BC045608;BG718483;CH471075;DQ120640;NM_030979 AAG38953;AAH27617;AAH45608;ABB92425;ABM83029;ABM86223;BAG36140;CAB66834;EAX08360;NP_112241;Q9H361 Hs.458280 1711462;2176991;2219428;5015649 D13S1095E;G49187;PABPC3__5808;SHGC-30876 PABP3;PABPL3;tPABP OTTHUMP00000018142;PABP-3;poly(A)-binding protein 3;poly(A)-binding protein-like 3;polyadenylate-binding protein 3;testis PABP;testis-specific poly(A)-binding protein (PABP);testis-specific poly(A)-binding protein 3 APPROVED protein-coding 8556 05248 604680 VALIDATED 6766426 PACRG-AS1 PACRG antisense RNA 1 6 q26 163731017 163745505 - 14702039;16344560 285796 ABBA01015114;ABBA01015115;AK094729;AL031121;AMYH01016835;DA395577;NR_028390 Hs.668693 1690868;1721251 G59622;RH93900 APPROVED miscrna 27772 VALIDATED 1348533 PABPC5 poly(A) binding protein, cytoplasmic 5 This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010] X X X q21.3 91182192 91186295 + 90576253 90580239 + 90689597 90693583 + 1580863;6480464;6907045 22808956;15772651;15489334;12477932;11374897;17207965;21906983;21182203;21890473;23000965;23300856;19956697;22505724 140886 Q5JQF3;Q96DU9 ABBA01069866;AJ278963;AK290105;AK297327;AL122118;AL662874;AMYH01022682;BC063113;CH471115;NG_021346;NM_080832 AAH63113;ADQ32067;BAF82794;BAG59787;CAB59276;CAC42826;EAX02776;NP_543022;Q96DU9 Hs.246590 5106114 PABPC5 FLJ51677;PABP5 OTTHUMP00000023637;OTTHUMP00000023638;polyadenylate-binding protein 5 APPROVED protein-coding ENSG00000174740 13629 02324 300407 REVIEWED 1352616 PACRG PARK2 co-regulated This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q26 163068154 163656514 + 163148164 163736524 + 6480464 21832049;17722288;17590346;17068781;16973374;16391553;16287063;15925106;15489334;15301585;14743368;14737177;14702039;14574404;14532270;12577057;12547187;12477932;11181995;17207965;20877624;19196541;19268936;19723394;20012177;20379614;23052943;21816242;22009144;22652456;23125027;22505724 135138 H0YFE8;H0YFW3;H0YGE0;Q96M98 ABBA01015115;ABBA01015116;ABBA01015117;ABBA01015118;ABBA01015119;ABBA01015120;AF546872;AK057286;AL031121;AL078585;AL137182;AL354942;AL590286;AL603788;AMYH01016834;AMYH01016835;AP001576;BC030642;BC044227;BK001670;CH471051;NG_011525;NM_001080378;NM_001080379;NM_152410 AAH30642;AAH44227;AAN37911;ADQ33104;BAB71410;DAA02134;EAW47563;EAW47564;EAW47565;EAW47566;NP_001073847;NP_001073848;NP_689623;Q96M98 Hs.25791 1331554;1337949;1649479;1649790;1649792;1675178;1690868;1694146;1694194;1703778;1711072;1717795;1752107;1753421;1757093;1786046;1853737;1855100 A006C15;AL008745;AL008752;D6S1008;D6S1035;D6S1071;D6S1175E;D6S1899;D6S305;G20697;RH121808;RH93900;SHGC-106072;SHGC-107229;SHGC-144483;SHGC-155508;SHGC-83222;SHGC-86172 FLJ32724;GLUP;HAK005771;PARK2CRG;RP3-495O10.2 OTTHUMP00000017729;OTTHUMP00000017730;OTTHUMP00000239114;PARK2 coregulated gene protein;molecular chaperone/chaperonin-binding protein;parkin co-regulated gene protein;parkin coregulated gene protein APPROVED protein-coding ENSG00000112530 19152 07465 608427 REVIEWED 1312792 PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 1 p34.2 38308199 38324232 - 39799075 39815003 - 40026485 40042521 - 1580863;6480464;6907045 8524242;11369516;15231747;17353931;9030741;15782174;15592455;15489334;15383276;15231748;14702039;14559993;12477932;10543404;10358005;8125298;21145461;17289661;17643375;21300955;22863883;22939629;21646427;20811636;18781797;22108332;21252943;15161933;19596686;19850743;20360068;21903422;21940797;16196087;19167051;17620599;19531213;19542561;22586326;21139048;21890473;21906983;20686565;17361185;19322201;21628590;18029348;19738201;21642987;21963094;22053931;22623428;23000965;23151878;23246001;23300856;23398456;19956697;22505724;22884093 8761 B1ANR0;B1ANR1;E9PIA5;H0Y5F5;H0Y6X6;H0YCC8;H0YEQ8;H0YER0;H0YEU6;Q13310 AB208962;ABBA01023207;AK091110;AK125926;AK222917;AL365277;AL845289;AMYH01000523;BC029969;BC065540;BC071591;BC094755;BC106908;BC118568;CH471059;D12799;DB455681;NM_001135653;NM_001135654;NM_003819;U33818;U75686 AAB97309;AAC50350;AAH65540;AAH71591;AAH94755;AAI06909;AAI18569;BAA02244;BAD92199;BAD96637;EAX07261;EAX07262;EAX07263;EAX07264;EAX07265;EAX07266;EAX07267;EAX07268;NP_001129125;NP_001129126;NP_003810;Q13310 Hs.169900 1659662;1686580;1707540;1711460;1736170;1854710;2175891;2191013;5022659;5493481 A001T47;D1S2022E;D20S1124;G49186;MARC_12901-12902:999887268:1;PABPC4;RH39552;SHGC-84579;UniSTS:486701;WI-19844 APP-1;APP1;FLJ43938;PABP4;iPABP OTTHUMP00000010668;OTTHUMP00000010669;OTTHUMP00000010670;OTTHUMP00000010671;OTTHUMP00000230701;PABP-4;activated-platelet protein 1;inducible poly(A)-binding protein;poly(A)-binding protein 4;polyadenylate-binding protein 4 APPROVED protein-coding ENSG00000090621 8557 04557 603407 REVIEWED 1345820 PABPN1 poly(A) binding protein, nuclear 1 This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010] 14 14 q11.2 22859237 22865212 + 23789397 23795394 + 6480464;6907045;7240710 9462747;15169763;12226669;18029348;10205180;19101703;18577936;18577654;18495660;18397876;18343218;18274805;18178579;18175083;17418585;17229142;17005403;16860991;16378590;16239242;21145461;21956377;16101680;15755680;15725589;15694141;15489334;15121898;14663186;12945950;12673802;12477932;11689481;11371506;11222452;11001936;10688363;10543404;10358005;10224081;7795598;11850402;17289661;19364924;19641605;19773279;20226184;21089175;8889548;20301305;21545772;23300856;21647273;22939629;21808065;16196087;20720006;15161933;21854744;21139048;21890473;21906983;19322201;21628590;22570486;23000965;23151878;23166521;22502866;22231868;22519734;22249111;22505724 8106 B4DEH8;G3V4T2;H0YJH9;Q86U42 ABBA01061320;AF026029;AK293633;AL049829;AMYH01005603;AMYH01005604;BC010939;BI830835;BM979311;BX247976;CH471078;NG_008239;NM_004643 AAC39596;AAH10939;BAG57089;CAD62310;EAW66167;EAW66168;NP_004634;Q86U42 Hs.707712 1690290;2138799;2190791;2191547;5022232 MARC_26170-26171:1030649367:1;PABPN;RH47139;RH65111;SHGC-57254 OPMD;PAB2;PABII;PABP-2;PABP2 OTTHUMP00000164595;OTTHUMP00000164596;OTTHUMP00000246235;OTTHUMP00000246236;PABII;PABP-2;nuclear poly(A)-binding protein 1;poly(A) binding protein 2;poly(A) binding protein II;poly(A)-binding protein 2;poly(A)-binding protein II;polyadenylate-binding nuclear protein 1;polyadenylate-binding protein 2 APPROVED protein-coding 8565 03787 164300;602279 REVIEWED 1605875 PACRGL PARK2 co-regulated-like 4 4 4 p15.31 21158541 21186485 + 20311387 20339072 + 20702036 20729980 + 6480464 15815621;15489334;14702039;12477932;8889548;16341674 133015 A8K679;D6R9D1;D6R9F1;D6R9N9;D6RA69;D6RAL7;D6RAM4;D6RB63;D6RBZ2;D6RC13;D6RC23;D6RD40;D6RDH3;D6REJ6;D6REQ4;D6RF08;D6RF51;D6RF67;D6RGK2;H0YA87;Q8N7B6 ABBA01032646;AC104065;AK098692;AK291544;AK294077;AK297556;AK307092;AK307355;AK307786;AK315482;AMYH01014047;BC023002;BG741791;BM763154;BU674750;CF121351;CH471069;DC339941;NM_001130727;NM_001258345;NM_001258346;NM_145048;NR_047661 AAH23002;AAY40910;BAC05381;BAF84233;BAG37866;BAG57419;BAG59949;EAW92795;EAW92796;NP_001124199;NP_001245274;NP_001245275;NP_659485;Q8N7B6 Hs.479298 1681300;1691212;2145913 D4S2590E;RH92764;RH93232 C4orf28;MGC29898 OTTHUMP00000158692;OTTHUMP00000217910;OTTHUMP00000217911;OTTHUMP00000218077;OTTHUMP00000218079;OTTHUMP00000218082;OTTHUMP00000218083;OTTHUMP00000218084;OTTHUMP00000218088;OTTHUMP00000218902;OTTHUMP00000218903;OTTHUMP00000218909;OTTHUMP00000218910;OTTHUMP00000218913;OTTHUMP00000218915;OTTHUMP00000218979;PACRG-like protein protein-coding ENSG00000163138 28442 14537 VALIDATED 1604046 PACS2 phosphofurin acidic cluster sorting protein 2 14 14 14 q32.33 85829098 85913416 + 104852126 104935529 + 105767170 105864484 + 6480464 15692563;19481529;18417615;18296443;16344560;15692567;22496420;22645134;15489334;15302935;12477932;9628581;19851296;20198315;22844345 23241 E9PB38;F8VW41;F8VX22;F8W0B1;F8W0V0;G8JLK3;Q86VP3 AB011174;AB029326;AB072449;ABBA01008870;ABBA01008871;ABBA01008872;ABBA01008873;ABBA01008874;ABBA01008875;ABBA01008876;AK098354;AL512355;AL539052;AL928654;AMYH01006078;AMYH01006079;AMYH01006080;AY320284;BC010663;BC028418;BC050351;BC065220;BC095493;BC131591;BU944012;CA423467;CH471061;DA275449;DA408379;DA491365;NM_001100913;NM_001243127;NM_015197 AAH10663;AAH50351;AAH65220;AAI31592;AAQ83882;BAA25528;BAB87116;BAB88325;BAC05290;EAW81915;NP_001094383;NP_001230056;NP_056012;Q86VP3 Hs.525626 1646974;1757787;1758473;2134438;2134440;2141598;2167271;5037552 D8S2279;G36208;G36304;RH15744;RH44555;SHGC-146518;SHGC-148425;WI-16962 FLJ25488;KIAA0602;PACS-2;PACS1L OTTHUMP00000243837;OTTHUMP00000243838;OTTHUMP00000243839;OTTHUMP00000243840;PACS-2;PACS1-like protein;phosphofurin acidic cluster sorting protein 1-like;phosphofurin acidic cluster sorting protein 2 protein-coding ENSG00000179364 23794 17816 610423 VALIDATED 735286 PACS1 phosphofurin acidic cluster sorting protein 1 This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008] 11 11 q13.1-q13.2 65594400 65768789 + 65837824 66012218 + 1580863;6480464 10707087;15569716;16977309;16308564;15692563;15489334;15302935;14702039;14633983;14608369;12855553;12526811;12477932;11331585;10574461;9695949;15638726;14965316;11463741;12414957;22496420;19710307;20379614;23159249;20360068;21926972;21139048;21890473;18005690;18653452;19149577;20702582;23563609 55690 B4DF77;E9PNG7;E9PNZ9;E9PPK2;E9PSE1;E9PSG7;H0YCU5;H0YE62;H0YF56;Q9ULP5 AB033001;ABBA01024088;ABBA01024089;ABBA01024090;ABBA01024091;AK001071;AK056361;AK096644;AK098336;AK293966;AL137271;AMYH01003728;AMYH01003729;AP000759;AP000822;AP006287;AY320283;BC003173;BC009936;BC010096;BC042909;BC052577;BC055288;BQ772654;CH471076;NM_018026 AAH03173;AAH09936;AAH10096;AAH52577;AAH55288;AAQ67682;BAA86489;BAA91491;BAB71164;BAC04831;BAG57338;CAB70669;EAW74502;EAW74503;EAW74504;EAW74505;EAW74506;NP_060496;Q6VY07 Hs.644326 1298295;1338807;1643792;1738123;1770658;2106565;2131883;2190701;2190703;2190705;2190711;2190713;2190715;5127142;7184003 152L21att;3F;4f;A001T38;CA21601;CA64681;D11S3746;D11S913;D1S2684;GT7681;PACS1__5810;RH12046;RH18211;RH65425 FLJ10209;KIAA1175;MRD17 OTTHUMP00000234308;PACS-1;cytosolic sorting protein PACS-1;phosphofurin acidic cluster sorting protein 1 APPROVED protein-coding ENSG00000175115 30032 06320 607492;615009 REVIEWED 736787 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 6 6 p21.3 34541883 34610978 + 34433838 34503000 + 1580863;6480464 19549836;18649358;16627472;16381901;16189514;15489336;15489334;12477932;12354780;12168954;11352907;11292345;11230166;11179684;11082044;11076863;10718198;9950691;11431473;15252009;16169070;11256614;19041431;20057076;22488361;20936779;21044950;17437541;22745667;22355135;23236520 29993 F6U236;Q5TZC3;Q9BY11 AB037800;ABBA01038191;ABBA01038192;AF242529;AK289956;AK294132;AL834211;AMYH01016257;AMYH01016258;BC040228;BC128219;BP211882;BP251080;BX255972;CH471081;DC312410;NM_001199583;NM_020804 AAH40228;AAI28220;AAK29206;ABM83404;ABM86615;BAA92617;BAF82645;BAG57460;CAD38895;CAL38387;EAX03785;EAX03786;EAX03787;NP_001186512;NP_065855;Q9BY11 Hs.520087 1652873;1667621;1686913;1716109;1853357;2127176 A001Z37;A009Q41;L18005;RH121019;RH77896;RH92669 KIAA1379;SDPI OTTHUMP00000016231;OTTHUMP00000016232;protein kinase C and casein kinase substrate in neurons protein 1;syndapin 1;syndapin I protein-coding ENSG00000124507 8570 05936 606512 VALIDATED 1354366 PADI6 peptidyl arginine deiminase, type VI This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012] 1 1 1 p36.13 16023823 16053321 + 17571328 17600782 + 17698741 17728195 + 6480464 18849993;15625577;15087120;14579251;22634725 353238 Q6TGC4 ABBA01000269;ABBA01000270;AC004824;AJ549502;AMYH01000296;AY422079;AY443100;CH471134;NG_032943;NM_207421 AAI48642;AAI53198;AAR38850;AAS07634;CAD70706;EAW94837;NP_997304;Q6TGC4 Hs.531598 1661210;2161646 AL009774;D1S2601 hPADVI peptidyl arginine deiminase-like protein;peptidylarginine deiminase VI;peptidylarginine deiminase type 6;protein-arginine deiminase type VI;protein-arginine deiminase type-6 APPROVED protein-coding 20449 15095 610363 REVIEWED 1344006 PADI1 peptidyl arginine deiminase, type I This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] 1 1 1 p36.13 15854608 15895194 + 17404208 17445088 + 17531621 17572501 + 1580863;6480464 18710930;18669583;17851584;16973334;16710414;16091842;15675958;15150696;15087120;14702039;14579251;12477932;12416996;8125298;20596086;16196087 29943 B4DDP3;B4DPX6;B4DQP2;Q9ULC6 AB033768;ABBA01000266;ABBA01000267;AJ549502;AK026652;AK127515;AK225541;AK293275;AK298538;AK298892;AK309106;AK314644;AL590644;AMYH01000295;BC130574;BC136402;CH471134;NM_013358 AAI30575;AAI36403;ADR83241;BAA85771;BAG37206;BAG56804;BAG60738;BAG61004;CAE47741;EAW94833;NP_037490;Q9ULC6 Hs.412941 2109621 PADI1_9613 HPAD10;PAD1;PDI;PDI1 OTTHUMP00000002401;hPAD-colony 10;peptidylarginine deiminase I;protein-arginine deiminase type I;protein-arginine deiminase type-1 APPROVED protein-coding ENSG00000142623 18367 06395 607934 REVIEWED 69456 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 22 22 q13.2-q13.33 41596880 41672991 - 43265772 43411184 - 1580863;6480464 10431838;19549836;18456257;17081983;16627472;16551695;16189514;15489334;15461802;12477932;12023017;11230166;11179684;11082044;10591208;9110174;8619474;15862967;20564319;20936779;15226389;19041431;19767753;20188097;20379614;23129763;21693584;21610094;22863883;21200149;21807942;21044950;21139048;21906983;21963094;22846425 11252 B0QYG7;B0QYG8;B0QYG9;F8WC50;H0Y923;Q6FIA3;Q9UNF0 ABBA01017914;ABBA01017915;ABBA01017916;ABBA01017917;ABBA01017918;ABBA01017919;ABBA01017920;ABBA01017921;AF128536;AL022476;AL049758;AL136845;AL389984;AMYH01012824;AMYH01012825;AY007086;BC008037;BI964045;CH471138;CR456536;CR533523;NM_001184970;NM_001184971;NM_007229 AAD41781;AAH08037;ABM83837;ABM87160;CAB66779;CAB97538;CAG30422;CAG38554;CAK54567;CAK54866;EAW73277;EAW73278;NP_001171899;NP_001171900;NP_009160;Q9UNF0 Hs.162877 1678401;1723625;1752367;1776698;1790673;1849491;1849493;2169046 A005Z33;AL021660;BARC0039;G20629;RH118731;RH80194;SHGC-106298;STS-T97931 SDPII OTTHUMP00000198281;OTTHUMP00000198282;OTTHUMP00000198283;OTTHUMP00000198284;cytoplasmic phosphoprotein PACSIN2;protein kinase C and casein kinase substrate in neurons protein 2;syndapin 2;syndapin II;syndapin-II;syndapin2 APPROVED protein-coding ENSG00000100266 8571 05390 604960 REVIEWED 1348232 PADI2 peptidyl arginine deiminase, type II This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] 1 1 p36.13 17265843 17318535 - 17393256 17445948 - 69925;1580863;6480464 2768262 11181995;19478818;18923545;18668562;18645041;17968929;17469138;17031564;16973334;16723463;16710414;15704193;15629448;15555572;15087120;14579251;12477932;12392711;22853951;10231032;19564157;20013286;20379614;20806090;22520816;22614825;21139048;21878453;23562679;22911765 11240 B4DIU3;Q96DA7;Q9Y2J8 AB023211;AB030176;ABBA01000263;ABBA01000264;ABBA01000265;ABBA01000266;AJ549502;AK123164;AK127006;AK295783;AL049569;AMYH01000295;BC009701;CH471134;NM_007365 AAH09701;BAA76838;BAA82557;BAC85545;BAG58605;CAE47740;EAW94830;EAW94831;NP_031391;Q9Y2J8 Hs.33455 1339814;1665830;1682353;1693322;1775588;1853895;2141060;2152870;2219430 D1S2590;D1S272E;D2S2154;G42367;PADI2__5811;RH28516;SHGC-32551;SHGC-74290;SHGC-74293 KIAA0994;PAD-H19;PAD2;PDI2 OTTHUMP00000002403;OTTHUMP00000002404;peptidlyarginine deiminase type II;peptidylarginine deiminase II;protein arginine deiminase;protein-arginine deiminase type II;protein-arginine deiminase type-2 APPROVED protein-coding ENSG00000117115 18341 06396 607935 REVIEWED 1347844 PAFAH1B1P1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 1 2 2 p11.2 87645897 87648144 - 87865192 87866769 - 10575211 7845 ABBA01188578;AC133644;AF092544;AMYH01010568;NG_003165 1688318;1783960 RH48326;SHGC-130305 LIS2;PAFAH1P1 APPROVED pseudo 8577 INFERRED 1350191 PAFAH1B1P2 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 2 2 2 q13 111857217 111859577 + 112141139 112142720 + 10575211 27002 AC068491;AF092545;AMYH01010936;NG_003167 1688318;1783960 RH48326;SHGC-130305 LIS2P;PAFAH1P2 APPROVED pseudo 8578 INFERRED 1316456 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 11 11 11 p12-p11.12 47338301 47347238 - 47155654 47164534 - 47199073 47208010 - 1580863;6480464 10531379;18174177;17081983;16627472;15719014;15489334;14702039;14679214;12952982;12477932;11179684;11082044;17353931;21044950;22573331;15226389;15280379;16374509;18316326;19041431;22939629;20360068;22558309;21987572;21139048 29763 E9PIY1;E9PIZ6;E9PJ33;E9PJ75;E9PNM9;E9PQ12;H0YDM6;Q9UKS6 ABBA01060721;AC090589;AF130979;AF149825;AF242530;AK000577;AK300658;AK300968;AK310819;AMYH01003540;BC007914;BC011889;BI601317;CH471064;NM_001184974;NM_001184975;NM_016223 AAF04472;AAG31023;AAH07914;AAH11889;AAK29207;ABM84082;ABM87449;BAA91267;BAG62344;BAG62592;BAI46684;EAW67960;EAW67961;EAW67962;NP_001171903;NP_001171904;NP_057307;Q9UKS6 Hs.334639 1686570;2191007 MARC_12871-12872:1000494470:1;RH98304 FLJ17861;SDPIII OTTHUMP00000234262;OTTHUMP00000234263;OTTHUMP00000234264;SH3 domain-containing protein 6511;protein kinase C and casein kinase substrate in neurons protein 3;syndapin III APPROVED protein-coding ENSG00000165912 8572 05937 606513 REVIEWED 732756 PADI3 peptidyl arginine deiminase, type III This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] 1 1 p36.13 17448180 17483315 + 17575593 17610728 + 1580863;6480464 10092850;18952102;18923650;18083705;16973334;16710414;16671893;16091842;15675958;15489334;15150696;15087120;14579251;12477932;11181995;11069618;22684066;18029348;22963397;23284291 51702 Q9ULW8 AB026831;ABBA01000267;ABBA01000268;AJ549502;AL590644;AMYH01000295;BC041592;BC109091;BC109092;CH471134;NM_016233 AAH41592;AAI09092;AAI09093;BAA85974;CAE47742;EAW94834;NP_057317;Q9ULW8 Hs.149195 2219432 PADI3__5812 MGC126307;MGC126308;PAD3;PDI3 OTTHUMP00000002484;peptidyl arginine deiminase, type 3;peptidylarginine deiminase III;protein-arginine deiminase type III;protein-arginine deiminase type-3 APPROVED protein-coding ENSG00000142619 18337 08419 606755 REVIEWED 1348860 PADI4 peptidyl arginine deiminase, type IV This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008] 1 1 p36.13 17507279 17563082 + 17634690 17690495 + 1580863;6480464;7240710 16828881;16710414;16567635;16519819;16502257;16469113;16449362;16385500;16380915;16355400;16200584;16060666;15998632;15883854;15814578;15731352;15731287;15629448;15489334;15345777;15339660;15338034;15247907;15087120;15077293;12833157;12477932;12393868;11435484;11042152;10488123;19470526;19332633;19199253;19158815;19004619;18849993;18764812;18668562;18633125;18576335;18505818;18466513;18466472;18462498;18398945;18292109;18087673;17980669;17968929;17888206;17868046;17469103;17265154;17216583;22334079;17911417;20563870;20630876;21452313;21505073;18029348;19199100;19581286;19843866;20039406;20190809;20233754;20476860;20537173;20827398;21039740;21062850;21981985;20496417;21245532;21454715;21466234;21832049;22614825;21698003;21731701;21584310;21655091;20584675;21418828;21602177;21267570;22459419;23028349;22944128;23214088;22552437;23450494 23569 B1AQ67;B2RBW0;Q9UM07 AB017919;ABBA01000268;ABBA01000269;AC004824;AF229067;AJ549502;AJ715932;AJ715933;AJ715934;AJ715935;AJ715936;AJ715937;AJ715938;AJ966355;AK290507;AK309637;AK314839;AL138798;AL590644;AMYH01000295;AMYH01000296;BC025718;CH471134;NG_023261;NM_012387 AAF82265;AAH25718;ADZ16037;BAA84542;BAF83196;BAG37357;CAE47743;CAG30581;CAG30582;CAG30583;CAG30584;CAG30585;CAG30586;CAG30587;CAI84651;EAW94835;EAW94836;NP_036519;Q9UM07 Hs.522969 1733074;1734232;2217690 D1S1415;D1S1748E;PADI4__2891 PAD;PAD4;PADI5;PDI4;PDI5 HL-60 PAD;OTTHUMP00000002482;PADI-H protein;peptidyl arginine deiminase, type V;peptidylarginine deiminase IV;protein-arginine deiminase type IV;protein-arginine deiminase type-4 APPROVED protein-coding ENSG00000159339 18368 05635 180300;605347 REVIEWED 1347038 PAEP progestagen-associated endometrial protein This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. A number of alternatively spliced transcript variants have been observed at this locus, but the full-length nature of only two, each encoding the same protein, has been determined. [provided by RefSeq, Jul 2008] 9 9 q34 137593425 137598443 + 138453604 138458622 + 1580863;6480464 17068141;3135704;3194393;19224449;19195690;18720404;18402941;18256018;18203874;18155767;17720699;17716661;17649816;17570010;17482165;17329396;17156191;17148576;17132480;17070198;17049713;16759928;16647384;16325596;16269626;16169070;16123169;15883155;15527767;15494501;15489334;15164053;15016783;14973265;14764802;14702039;14679205;12826085;12672671;12654469;12556471;12477932;12351556;12202458;11884441;11818517;11278680;11058757;11058744;11023837;9591048;9239694;9166287;8943270;8452641;8025274;7829063;7592613;7047733;6776278;3768286;3667877;3569148;3320533;2975952;2380618;2206398;2113930;2016092;2006183;9274854;22296396;21227941;19032611;19520712;19609241;19683346;19857900;19903048;20040080;19945098;20592348;20592354;17207965;19759913;19799645;20843776;20638131;20880745;20886106;21292383;22563871;18029348;20676758;22239027;21168900;21880722;22748851;23036050;21832049;21999200;22313865;22977256 5047 F2Z349;H0Y4U4;H0Y530;H0Y6A4;P09466;Q5T6T6 ABBA01030038;AK304657;AK309983;AK311007;AK311730;AK311813;AL354761;AMYH01021840;BC069451;BC069562;BC112304;BC113728;CH471090;DQ884407;J04129;M34046;M61886;NM_001018049;NM_002571 AAA35801;AAA35802;AAA60147;AAA60148;AAH69451;AAH69562;AAI12305;AAI13729;ABI63374;ADQ32949;ADR82852;BAG34756;BAG65432;EAW88163;EAW88164;EAW88165;EAW88166;EAW88167;EAW88168;NP_001018059;NP_002562;P09466 Hs.532325 1772296;5022450;5037552;5114635 D10S275;D8S2279;G06418;WI-18065 GD;GdA;GdF;GdS;MGC138509;MGC142288;PAEG;PEP;PP14 OTTHUMP00000022548;OTTHUMP00000022549;OTTHUMP00000022550;OTTHUMP00000022551;OTTHUMP00000022552;OTTHUMP00000022554;OTTHUMP00000022555;PEG;PP14 protein (placental protein 14);alpha uterine protein;glycodelin;glycodelin-A;glycodelin-F;glycodelin-S;placental protein 14;pregnancy-associated endometrial alpha-2 globulin;pregnancy-associated endometrial alpha-2-globulin;progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial a;progesterone-associated endometrial protein APPROVED protein-coding ENSG00000122133 8573 01411 173310 REVIEWED 1607027 PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 19 q13.1 36677951 36683361 - 44568109 44573519 - 39876269 39881835 - 6480464;7240710 15632063;16491129;16307923;14702039;12477932;20541477;21037944;18469135;19771162;20178742;22939629;23008333;16024656;16713563;19454010;22863883;22990118;21209461;22079093;20305087;16344560;21139048;21890473;21906983;22046413;21596312;21726809;21873227;15923622;22451921;18029348;20471949;22053931;22355797;22567366 54623 B4DGJ5;F8W9Q2;M0QX35;M0QYC7;Q8N7H5 ABBA01040729;AC005239;AF086555;AJ401156;AK001985;AK098423;AK294625;AMYH01009794;BC000017;BC013402;CH471126;DA821359;NM_001256826;NM_019088;NR_046384 AAC25503;AAH00017;AAH13402;ABM82765;ABM85952;BAA92020;BAC05305;BAG57806;CAC20564;EAW56880;EAW56881;EAW56882;EAW56883;NP_001243755;NP_061961;Q8N7H5 Hs.466714 1663807;1677806 RH36195;RH91454 F23149_1;FLJ11123;PD2 RNA polymerase II-associated factor 1 homolog;hPAF1;pancreatic differentiation protein 2 APPROVED protein-coding ENSG00000006712 25459 10140 266510;610506;614866;614867 REVIEWED 732942 PAFAH1B3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 19 19 19 q13.1 39601981 39607748 - 47493025 47498563 - 42801185 42806952 - 1580863;4107040;6480464 17330141 16189514;7669037;16236267;16169070;15489334;15057824;12477932;11285245;10727864;9693049;9144386;14733918;11522926;19622634;22863883;20360068;21844189;18781797;21139048;21044950;19738201;22461910;22623428;22505724 5050 M0QXS6;M0QZT2;M0R1K3;M0R323;M0R389;Q15102 AA432316;ABBA01040846;AC006486;AMYH01009830;BC003016;BC007863;BE048307;CB216829;CH471126;CR407626;D63391;NM_001145939;NM_001145940;NM_002573 AAD11989;AAH03016;AAH07863;BAA09706;CAG28554;EAW57122;EAW57123;EAW57124;EAW57125;EAW57126;NP_001139411;NP_001139412;NP_002564;Q15102 Hs.466831 1734670;1734692;2128055;2169385;2171800 D19S674E;D19S691E;NIB1825;RH71329;STS-AA011180 FLJ44990;PAFAHG PAF acetylhydrolase 29 kDa subunit;PAF-AH 29 kDa subunit;PAF-AH subunit gamma;PAF-AH1b alpha 1 subunit;PAFAH subunit gamma;platelet-activating factor acetylhydrolase IB subunit gamma;platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) APPROVED protein-coding ENSG00000079462 8576 04354 603074 REVIEWED 1349260 PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009] 17 17 p13.3 2443686 2535638 + 2496923 2588909 + 1601499;1580863;4107040;6480464;6484113;7240710 1754098;17330141 11056532;11889140;8028668;9063735;11163258;11940666;19667223;19632097;19527514;19251251;19136950;19020519;19019335;18818748;18784752;18524253;18431085;18421979;18285425;17850624;17664403;17018134;16806233;16766276;16761416;16689754;16642511;16549273;16411107;16258276;16144905;16138011;16086290;16027700;15762842;15698475;15489334;15173193;15081260;15057976;15007136;14970193;14962739;14733918;14584027;14581661;14578885;12885786;12556484;12496397;12477932;12185771;12110797;11916011;11803439;11734602;11502906;11294621;11163260;11001923;10729324;10727864;10491172;10441340;9626899;9601647;9384577;9218411;9131135;9044400;8586424;8355785;7573359;12796778;16169070;21319273;21107783;20675372;11076968;12221128;12852856;16462731;19050731;19622634;20048338;20084519;20133715;20452482;20464283;7790358;20168084;17041588;18029348;20140262;19913121;20628086;20634891;20673868;21092859;21036906;22749159;21569763;22863883;22373868;20360068;21593204;21652625;21911489;18781797;21139048;21906983;17043677;21890215;22006948;20301752;16009940;22328561;16203747;10931877;21565611;22956769;22505724 5048 B4DF38;I3L384;I3L3G7;I3L3N5;I3L495;P43034 ABBA01054715;ABBA01054716;ABBA01054717;ABBA01054718;ABBA01054719;AC005696;AC015799;AF208835;AF208836;AF208837;AF208838;AF400434;AK293918;AK303015;AK313078;AMYH01008016;AMYH01008017;BC064638;BX538346;CH471108;L13385;L13386;L13387;L13388;L25107;NG_009799;NM_000430;S81396;U72342 AAA02880;AAA02881;AAA02882;AAC51111;AAH64638;AAK92483;AAL34972;AAL34973;BAG35904;BAG57299;BAG64145;CAD98141;EAW90536;NP_000421;P43034 Hs.77318 1341017;1647168;1649220;1665231;1680747;1688318;1733386;1737545;1759477;1783960;2118133;2130929;2132387;2141786;2155961;2176190 D17S1267;D17S1582;D17S1798;D17S2027;D17S850E;G33155;RH12602;RH16161;RH48326;RH92999;SHGC-130305;SHGC-150914;STS-H04399;STS-T60849;WI-11159;WI-15114 LIS1;LIS2;MDCR;MDS;PAFAH LIS-1;PAF acetylhydrolase 45 kDa subunit;PAF-AH 45 kDa subunit;PAF-AH alpha;PAFAH alpha;lissencephaly 1 protein;lissencephaly-1 protein;platelet-activating factor acetylhydrolase IB subunit alpha;platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD);platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) APPROVED protein-coding ENSG00000007168 8574 03329 601545;607432 REVIEWED 1349698 PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008] 1 1 p36 26158845 26197235 - 26286258 26324648 - 1302298;1580863;6480464 8955149 17272759;17157859;16650870;15489334;12477932;12406338;11294621;9494101;9218411 5051 Q5SY00;Q5SY01;Q99487 ABBA01034892;ABBA01034893;ABBA01034894;ABBA01034895;AK313815;AL592064;AMYH01000394;BC001158;BU630496;CH471059;D87845;NM_000437;U89386 AAC39707;AAH01158;ABM83722;ABM87042;BAA13468;BAG36551;EAX07852;EAX07853;NP_000428;Q99487 Hs.477083 2118472;2159106;2186884;5015619;5016851 D11S3114;RH80031;SHGC-74396;SHGC-74427;STS-N89593 FLJ26025;HSD-PLA2 OTTHUMP00000008594;OTTHUMP00000008596;SD-PLA2;platelet-activating factor acetylhydrolase 2, cytoplasmic;serine-dependent phospholipase A2 APPROVED protein-coding ENSG00000158006 8579 03824 602344 REVIEWED 733676 PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [providedby RefSeq, May 2010] 11 11 11 q23 114172757 114205230 + 116520250 116544024 + 117015000 117047610 + 4107040;4107059;6480464 17330141;11983068 16130169;19019335;18464913;18155631;17849047;16169070;15489334;14718574;12477932;11522926;10727864;9693049;9144386;8954729;16189514;21319273;19622634;22863883;20360068;21844189;20639865;21139048;21890473;21866060;18029348;12885786;23238734;19738201;23508960 5049 J3KNE3;Q6IBR6 ABBA01039737;ABBA01039738;AK292973;AK307366;AMYH01004059;AMYH01004060;AP005018;AW080651;BC000398;BC001774;BC010009;BC019301;BC021287;BC039721;CH471065;CR456736;D63390;DQ836738;DQ836739;DQ836740;DQ836741;DQ836742;DQ836743;EF445007;NM_001184746;NM_001184747;NM_001184748;NM_002572 AAH00398;AAH01774;AAH19301;ABI58225;ABI58226;ABI58227;ABI58228;ABI58229;ABI58230;ACA06040;BAA19917;BAF85662;CAG33017;EAW67281;EAW67282;NP_001171675;NP_001171676;NP_001171677;NP_002563;P68402 Hs.728488 1661602;1733742;1850033;2144105;2171353;2171355;2175033;2177036;2219434;5022450;5113764 A002C39;D10S275;D11S2082;G19939;PAFAH1B2__5813;RH18271;RH46116;RH46404;RH65106;RH65946;RH70243 OTTHUMP00000234977;OTTHUMP00000234979;OTTHUMP00000234980;OTTHUMP00000234981;PAF acetylhydrolase 30 kDa subunit;PAF-AH 30 kDa subunit;PAF-AH subunit beta;PAF-AH1b alpha 2 subunit;PAFAH subunit beta;intracellular platelet-activating factor acetylhydrolase alpha 2 subunit;platelet-activating factor acetylhydrolase IB subunit beta;platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) APPROVED protein-coding ENSG00000168092 8575 03940 602508 VALIDATED 1603638 PAG1 phosphoprotein associated with glycosphingolipid microdomains 1 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008] 8 8 q21.13 82042600 82186858 - 81880045 82024303 - 6480464;6484113 21156787;10790433;14665621;18070987;18056706;11684085;9334312;17389760;17143285;16947079;16636672;16160011;15489334;14702039;12477932;20561033;19913121;20628086;11163757;16413409;19581936;20379614;20388373;21388951;21092590;21822266;22659621;22027792;23022100 55824 Q9NWQ8 AA766638;ABBA01004056;AC012533;AC022778;AC079209;AF240634;AK000680;AK095177;AK289818;AMYH01018830;BC090931;BC112159;BX426120;CB960651;CH471068;NM_018440 AAF67343;AAH90931;AAI12160;ACE86824;ACE87510;BAA91321;BAF82507;EAW87085;EAW87086;NP_060910;Q9NWQ8 Hs.266175 1643780;1689712;1695974;1735840;1761515;1786874;2120582;2120584;2167115;2171079;2219436;5024039 D16S325;D8S1436E;G20703;PAG__5815;RH93560;SHGC-145518;SHGC-63662;SHGC-80899;SHGC-82725;STS-G20703;STS-N48595;WI-16808 CBP;FLJ37858;MGC138364;PAG Csk-binding protein;OTTHUMP00000227022;phosphoprotein associated with glycosphingolipid-enriched microdomains 1;transmembrane adapter protein PAG;transmembrane adaptor protein PAG;transmembrane phosphoprotein Cbp APPROVED protein-coding 30043 05772;16944 605767 REVIEWED 1343229 PAGE3 P antigen family, member 3 (prostate associated) X X X p11.21 59119938 59126253 - 55301573 55308004 - 55284848 55291165 - 6480464 15772651;9724777;12477932 139793 Q5JUK9 ABBA01069546;ABBA01069547;ABBA01069548;AL158819;AMYH01022437;BC140001;BC140741;BC144449;CH471154;NG_017195;NR_033460 AAI40002;AAI40053;AAI40742;AAI44450;EAW93220;Q5JUK9 Hs.163473 CT16.6;GAGEC1;GAGED1;PAGE-3 pseudo ENSG00000204279 4110 18552 300739 VALIDATED 1603822 PAGE2B P antigen family, member 2B X X X p11.21 58936645 58940477 + 55118229 55122061 + 55101504 55105336 + 6480464 15772651;12477932;16341674 389860 Q5JRK9;Q5JRL0 ABBA01069567;AL590240;AMYH01022433;AX972928;BC130359;BM782405;HY192793;NM_001015038 AAI30360;ADR83349;CAF18036;NP_001015038;Q5JRK9 Hs.293317 CT16.5;GAGEE3;PAGE-2B G antigen, family E, 3;OTTHUMP00000023392;OTTHUMP00000023393;prostate-associated gene 2B protein;putative G antigen family E member 3 protein-coding ENSG00000238269 31805 18616 VALIDATED 1604971 PAGE2 P antigen family, member 2 (prostate associated) X X X p11.21 58950638 58954401 + 55132222 55135985 + 55115497 55119260 + 6480464 15489334;15164054;12477932;9724777;21044950 203569 Q7Z2X7 AL590240;AMYH01022434;BC054022;NM_207339 AAH54022;ADR82681;NP_997222;Q7Z2X7 Hs.662489 CT16.4;GAGEC2;GAGEE2;MGC62094;PAGE-2 G antigen family C 2;G antigen family E member 2;G antigen, family C, 2;G antigen, family E, 2;OTTHUMP00000023395;OTTHUMP00000023396;P antigen family member 2;prostate-associated gene 2 protein protein-coding ENSG00000234068 31804 17565 300738 PROVISIONAL 1344360 PAGE1 P antigen family, member 1 (prostate associated) This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. [provided by RefSeq, Jul 2008] X X X p11.23 53521572 53529872 - 49339007 49347307 - 49452053 49460596 - 6480464 9651357;18029348;15489334;12477932;10397259;9724777;7544395;20237496;18781797;20360068;21963094 8712 O75459 ABBA01063275;ABBA01063276;AC142496;AC231643;AF058989;AMYH01022321;BC004861;BU941413;CH471180;CR542084;NG_012550;NM_003785 AAC25990;AAH04861;ABM84308;ABM87701;CAG46881;EAW89934;EAW89935;NP_003776;O75459 Hs.128231 1334665;1848203;7183753 DXS1039;DXS8366 AL5;CT16.3;GAGE-9;GAGEB1;PAGE-1 G antigen 9;G antigen family B member 1;G antigen, family B, 1 (prostate associated);OTTHUMP00000032034;P antigen family member 1;prostate associated gene 1;prostate-associated gene 1 protein APPROVED protein-coding ENSG00000068985 4107 02240 300288 REVIEWED 1351759 PAICSP1 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1 9 9 9 p13 37811233 37845604 + 37867989 37888809 + 37878058 37912432 + 8106516;8106516 780814 ABBA01050385;AL138752;AMYH01019361;NG_005828 1688440;1725705;2161104;2164896;5114032 G30541;G62115;RH18244;RH75285;RH78981 pseudo 8588 INFERRED 3497486 PAICSP3 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3 6 6 6 q13 74431212 74435317 + 74093299 74097608 + 74036678 74040783 + 9847074 780810 ABBA01040312;AC019205;AMYH01016425;NG_005824 1801668;1817824;1820438;1832056;1836654;1841116;1923110;1923112;1923114;1923116;1923118;1923120;1923122;1923124;1923126;1923128;1923130;1923132;1923134;1923136;1923138;1923140;1923142;1923144;1923146;1923148;1923150;1923152;1923154;1923156;1923158;1923160;1923162;2135140;2207170;2207172;2207174;2207176;2207178;2207180 D6S2029;ECD01713;ECD09966;ECD11294;ECD17166;ECD19491;ECD21752;REN32379;REN32380;REN32381;REN32382;REN32383;REN32384;REN32385;REN32386;REN32387;REN32388;REN32389;REN32390;REN32391;REN32392;REN32393;REN32394;REN32395;REN32396;REN32397;REN32398;REN32399;REN32400;REN32401;REN32402;REN32403;REN32404;REN32405;stSG625810;stSG625811;stSG625812;stSG625813;stSG625814;stSG625815 pseudo 38096 INFERRED 1343084 PAICSP2 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 9 9 9 q22 64808163 64809428 + 93413268 93414733 + 94373548 94374813 + 8106516;8106516 780815 ABBA01012855;AL159999;AMYH01021505;NG_005829 pseudo 8589 INFERRED 3497484 PAICSP4 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 8 8 8 p23.2 4619304 4672348 + 4632210 4633674 + 4644658 4699427 + 780813 ABBA01007076;AC012543;AMYH01018288;NG_005827 1663836;1695438;1749917;1853978;5106625 B348YA5;D8S1086;RH18105;SHGC-111636;SHGC-68813 pseudo 38097 INFERRED 3497485 PAICSP5 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5 7 7 q35 142952256 142953526 - 143242134 143243404 - 9847074 780811 AACC02000107;ABBA01006156;AC073264;CH236959;NG_005825 pseudo 38098 INFERRED 4109153 PAICSP6 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6 7 7 q35 143110541 143166620 + 143480220 143481372 + 9847074 780812 AACC02000107;AC099548;AMYH01018053;CH236959;NG_005826 1649429;1757589;1786208 SHGC-106890;SHGC-145054;WI-12643 pseudo 38099 INFERRED 3497483 PAICSP7 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7 X X X q21 94416700 94419796 - 93778059 93781355 - 93891502 93894598 - 780816 ABBA01064822;AL357354;AMYH01022692;NG_005830 pseudo 38100 INFERRED 1354158 PAIP1P1 poly(A) binding protein interacting protein 1 pseudogene 1 6 p21.3 30154575 30156383 - 100421582;387485 ABBA01038041;AL671855;AL844220;AL845450;AMYH01016204;BX248419;BX927221;CR388382;CR759838;CR788282;NG_025805 1853002 D6S2267 bCX300M20.3;bPG254M11.3;bQB44E15.5 pseudo 18240 INFERRED 1604258 PAGE5 P antigen family, member 5 (prostate associated) This gene is a member of the GAGE family, which is expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. It may also belong to a family of CT (cancer-testis) antigens. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants have not been determined. [provided by RefSeq, Jul 2008] X X X p11.21 59081890 59085641 + 55263516 55267266 + 55246791 55250541 + 6480464 15772651;15489334;12477932;11992404;11920606;23028975;21044950 90737 Q5JUL1;Q96GU1 ABBA01069552;AJ344352;AL158819;AMYH01022436;BC009230;BC110803;BQ437151;CH471154;NM_001013435;NM_130467 AAH09230;AAI10804;CAC87642;EAW93219;NP_001013453;NP_569734;Q96GU1 Hs.668491 CT16;CT16.1;CT16.2;GAGEE1;PAGE-5 G antigen family E member 1;G antigen, family E, 1;OTTHUMP00000023398;OTTHUMP00000023399;OTTHUMP00000023400;P antigen family member 5;cancer/testis antigen 16.1;cancer/testis antigen family 16, member 1;cancer/testis antigen family 16, member 2;prostate-associated gene 5 protein APPROVED protein-coding ENSG00000158639 29992 06672 REVIEWED 1605487 PAIP2B poly(A) binding protein interacting protein 2B Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 71260574 71304932 - 71263376 71307741 - 71409868 71454233 - 6480464 16804161;17381337;16344560;10574461 400961 Q9ULR5 AB032981;ABBA01075549;ABBA01075550;AC007878;AC007881;AC093654;AL110211;AMYH01010427;CH471053;DA247526;DA346299;NM_020459 AAI56858;BAA86469;EAW99774;EAW99775;NP_065192;Q9ULR5 Hs.416735 2147815;2149771;2166877;2180170;5022651;5115516 D11S2921;RH16647;RH36004;RH36348;RH68850;WI-14958 KIAA1155 OTTHUMP00000203601;PABP-interacting protein 2B;PAIP-2B;poly(A)-binding protein-interacting protein 2B;polyadenylate-binding protein-interacting protein 2B APPROVED protein-coding ENSG00000124374 29200 611018 VALIDATED 1346380 PAGE4 P antigen family, member 4 (prostate associated) This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. [provided by RefSeq, Aug 2013] X X X p11.23 53663213 53667877 + 49480644 49485308 + 49593906 49598570 + 6480464 21357425;15772651;15489334;15362791;14702039;12489849;12477932;9724777;22885105 9506 O60829 ABBA01063286;AC231644;AF238380;AF275258;AJ005894;AK092503;AK312039;AMYH01022321;BC010897;BG435968;BG622311;BX371732;CH471180;CR456823;CR542183;NM_007003 AAF88037;AAH10897;ABM83634;ABM86886;BAG34976;CAA06751;CAG33104;CAG46980;EAW89932;EAW89933;NP_008934;O60829 Hs.441038 5019158 RH102933 CT16.7;FLJ35184;GAGE-9;GAGEC1;JM-27;JM27;PAGE-1;PAGE-4 G antigen family C member 1;G antigen, family C, 1;OTTHUMP00000025849;OTTHUMP00000025850;P antigen family member 4;prostate-associated gene 4 protein;prostate-associated gene protein 4 APPROVED protein-coding ENSG00000101951 4108 02239 300287 REVIEWED 1606780 PAGR1 PAXIP1 associated glutamate-rich protein 1 C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008] 16 16 16 p11.2 72962445 72968733 - 29735029 29741317 + 29827528 29833816 + 6480464 17178841;19124460;19039327;17500065;17081983;15489334;15302935;12477932;19596235;17207965;21832049;22939629;21139048;23161582 79447 Q9BTK6 ABBA01013117;AC009133;AC120114;AK026112;AL549915;AMYH01007495;BC003640;CA455544;CH471238;EF195235;NM_024516 AAH03640;ABM69249;ADQ31848;EAW79989;NP_078792;Q9BTK6 Hs.702841 1679796;1854457;2126739;7184855 D16S2588E;D16S3210;D16S383;RH17219 C16orf53;FLJ22459;GAS;MGC4606;PA1 OTTHUMP00000162997;PAXIP1-associated glutamate-rich protein 1;PAXIP1-associated protein 1;PTIP-associated 1 protein;PTIP-associated protein 1;glutamate-rich coactivator associated with SRC1;glutamate-rich coactivator interacting with SRC1/NCOA1 APPROVED protein-coding 28707 14647 612033 VALIDATED 735410 PAH phenylalanine hydroxylase PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008] 12 12 q22-q24.2 101756234 101835511 - 103232104 103311381 - 1358249;1601521;1601523;1601526;1580863;1300048;6480464;6907045;7240710 2884570;1361103;17443661;14654659 12185072;7581408;3856322;2872999;19394257;19360691;19292873;19268543;19199246;19161120;19147918;19099685;19086053;19062542;19062537;19036622;18985011;18956252;18937293;18937047;18798839;18769885;18538294;18447256;18387838;18374504;18346471;18299955;18294361;18247293;18184144;17924342;17633563;17630668;17627389;17557229;17502162;17096675;16935936;16917891;16765994;16755493;16545551;16402341;16256386;16086286;15917086;15793771;15730960;15556637;15489334;15464430;15459954;15313177;15300621;15192831;15135070;15060071;14568534;12833401;12782966;12777691;12765842;12655552;12655548;12655546;12655545;12653545;12649065;12640344;12603331;12603326;12477932;12379147;12210276;12200907;12173030;12126628;12096915;12056888;11935335;11855940;11718561;11708866;11678552;11524738;11461196;11385716;11326337;11214902;11180595;11172645;10784452;10694386;10679941;10472529;10200057;9950317;9852673;9843368;9792411;9792407;9642259;9600453;9521426;9450897;9450182;9406548;9169088;9101291;9048935;9016524;8990013;8889590;8889583;8829656;8825461;8696344;8594560;8487271;8406445;8401510;8370573;8364546;8116675;8098245;8097261;8095248;8088845;8068076;7981714;7860062;7833954;7807961;7668259;3615198;3008810;2986678;2840952;2816939;2615649;2606484;2574002;2564729;2461704;2309142;2246858;2063869;2044609;2035532;2014802;2006152;1978553;1975559;1975096;1971147;1971144;1968617;1915502;1769645;1709636;1682495;1682235;1679030;1679029;1672294;1672290;1671881;1671810;1671770;1671768;1609797;1601425;1363838;1363837;1360590;1358789;1355066;1349576;1326329;1312992;1301947;1301202;1301201;1301200;1301193;1301187;11461190;20188615;19444284;19485247;19629656;19674121;19786003;19915519;19938643;20017307;20082265;20140859;20187763;20468064;20667834;20457534;17207965;20301677;20937381;21154324;21890392;21811977;22333022;22513348;22763404;23074961;21988832;23296088;22808937;22698810;23220018 5053 F8W0A0;F8W1D4;J3KND8;P00439 ABBA01053223;AC069227;AF404777;AK298419;AK313383;AMYH01004704;AY722625;BC026251;CH471054;K03020;L47726;NG_008690;NM_000277;S61296;S61396;S83538;U49897 AAA60082;AAA80910;AAB50813;AAC51772;AAD13926;AAD13928;AAH26251;AAL78816;AAU11304;ADQ32100;BAG36181;BAG60644;EAW97700;EAW97701;EAW97702;NP_000268;P00439 Hs.603740 1658577;1741005;1741061;1741179;1741593;1741709;1741711;1741713;1742379;1742671;1744411;1744413;1753709;1756225;1782728;2135866;2165784;2175379;2219438;5117250;5119651 D12S1418;GDB:177363;GDB:177555;GDB:177630;GDB:178434;GDB:181551;GDB:182301;GDB:182302;GDB:182303;GDB:196577;GDB:199078;GDB:454047;GDB:454053;GDB:454059;PAH__5816;RH68979;SHGC-107607;SHGC-143102;SHGC-155640;SHGC-37493;WI-12632 PH;PKU;PKU1 OTTHUMP00000242535;OTTHUMP00000242536;phe-4-monooxygenase;phenylalanine 4-monooxygenase;phenylalanine-4-hydroxylase APPROVED protein-coding ENSG00000171759 8582 08943 261600;612349 REVIEWED 1313834 PAIP1 poly(A) binding protein interacting protein 1 The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 5 5 p12 43562126 43593244 - 43526369 43557521 - 6480464 21539810;9548260;10970864;11997512;16344560;15489334;15252450;12477932;11287654;11230166;11172725;11051545;14685257;21145461;18725400;19615732;19851022;22939629;22863883;21726813;22053931 10605 D6R9H8;D6RD97;D6REB4;D6RJ02;D6RJF2;H0YA44;Q9H074 ABBA01024257;ABBA01024258;ABBA01024259;AC114956;AF013758;AK308270;AL136920;AMYH01015058;AMYH01015059;BC005295;BC015937;BG430290;BG719757;CH471119;DB089732;DQ786248;NM_006451;NM_182789;NM_183323 AAC39697;AAH05295;AAH15937;ABM82036;ABW03359;CAB66854;EAW56067;EAW56068;EAW56069;EAW56070;NP_006442;NP_877590;NP_899152;Q9H074 Hs.482038 1689871;5094092 G34968;RH67717 MGC12360 OTTHUMP00000122430;OTTHUMP00000122431;OTTHUMP00000221600;OTTHUMP00000221601;PABC1-interacting protein 1;PABP-interacting protein 1;PAIP-1;poly(A)-binding protein-interacting protein 1;polyadenylate binding protein-interacting protein 1;polyadenylate-binding protein-interacting protein 1 APPROVED protein-coding ENSG00000172239 16945 05539 605184 REVIEWED 1346725 PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 q12 56996672 57022291 + 57301915 57327534 + 1580863;5135429;633692;6480464;6907045 19850283;7742366 7821789;16169070;2253271;16964243;16501559;16189514;15489334;15146197;14702039;12477932;9108165;8106516;2183217;2075724;2004782;17353931;15680326;21145461;21319273;1574589;19060904;20201926;22863883;22990118;22939629;19135240;21110914;18781797;21987572;22118674;21044950;21628590;21139048;21890473;21906983;22586326;22505724;22632162;22797925 10606 D6RF62;E9PBS1;P22234 AA669362;ABBA01003425;AC068620;AC114766;AK001163;AK054760;AK294821;AK308527;AMYH01014194;BC010273;BC019255;BM807012;BT006988;BX538303;CF994644;CH471057;CN337183;CR749824;D28431;DB503040;NM_001079524;NM_001079525;NM_006452;U00239;X53793 AAH10273;AAH19255;AAP35634;ABM83982;ABM84702;ABM87304;ABM92222;BAA05797;BAG57934;CAA37801;CAH18683;EAX05489;EAX05490;EAX05491;EAX05492;EAX05493;EAX05494;NP_001072992;NP_001072993;NP_006443;P22234 Hs.518774;Hs.709570 1659050;1841116;1923148;1923150;2109623;2114775;2117794;2131044;2135364;2143256;2144248;2207178;5022578;5037552;5106625;5118800 D11S3663;D1S1423;D8S2279;ECD21752;G16719;PAICS_9154;REN32398;REN32399;RH18105;SHGC-2769;SHGC-50692;SHGC-50713;SHGC-67594;SHGC-67819;STS-U00239;stSG625814 ADE2;ADE2H1;AIRC;DKFZp781N1372;MGC1343;MGC5024;PAIS AIR carboxylase;OTTHUMP00000219411;OTTHUMP00000219412;OTTHUMP00000219413;OTTHUMP00000219414;SAICAR synthetase;multifunctional protein ADE2;multifunctional protein ADE2H1 APPROVED protein-coding ENSG00000128050 8587 01401 172439 REVIEWED 1312240 PAIP2 poly(A) binding protein interacting protein 2 5 5 5 q31.2 134799217 134827120 + 138705418 138733308 + 138677519 138705409 + 1580863;6480464 11172725;16804161;16601676;16381901;15489336;15489334;15175342;12820898;12477932;11438674;11287632;11230166;11076863;11042152;14685257;17785442;20096703;21726813;8889548;11256614;19240791;21832049;22939629;21890473;21906983;22318606;22505724 51247 D6R9Y1;D6RA77;Q9BPZ3 ABBA01068638;ABBA01068639;ABBA01068640;ABBA01068641;AC011404;AC135457;AF151052;AF317675;AK024552;AK314672;AL136640;AMYH01015650;BC001716;BC039337;BC048106;BC062718;BI560379;BU732743;CH471062;CR533489;NM_001033112;NM_016480 AAF36138;AAH01716;AAH39337;AAH48106;AAH62718;AAK11562;ACE86852;ACE87539;BAG37228;CAB66575;CAG38520;CAL38574;EAW62107;EAW62108;EAW62109;EAW62110;EAW62111;EAW62112;NP_001028284;NP_057564;Q9BPZ3 Hs.396644 1740513;1780646;2217984 D5S2301E;SLC23A1_2967;bac51505T MGC72018;PAIP2A OTTHUMP00000159528;OTTHUMP00000223733;OTTHUMP00000223734;PABC1-interacting protein 2;PABP-interacting protein 2;PAIP-2;poly(A)-binding protein-interacting protein 2;polyA-binding protein-interacting protein 2;polyadenylate-binding protein-interacting protein 2 protein-coding ENSG00000120727 17970 05726 605604 VALIDATED 1353310 PAK1IP1 PAK1 interacting protein 1 6 6 6 p24.2 11923680 11938465 + 10803174 10817958 + 10695188 10709972 + 6480464 15489334;15302935;14702039;14574404;12477932;12429849;11371639;8125298;18029348;15761153;12165471;21097889;15316005 55003 Q9NWT1 ABBA01022084;AF283303;AK000631;AK225516;AL358777;AMYH01016079;BC010907;BU618231;CH471087;NM_017906 AAH10907;AAK57477;ABM83724;ABM87044;BAA91296;EAW55267;EAW55268;EAW55269;EAW55270;NP_060376;Q9NWT1 Hs.310231 1698628 RH102870 FLJ20624;MAK11;PIP1;RP11-421M1.5;WDR84;bA421M1.5;hPIP1 OTTHUMP00000016022;PAK/PLC-interacting protein 1;PAK1-interacting protein 1;WD repeat-containing protein 84;p21-activated protein kinase-interacting protein 1 protein-coding ENSG00000111845 20882 07424 607811 VALIDATED 732793 PAK2 p21 protein (Cdc42/Rac)-activated kinase 2 The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008] 3 3 q29 197951312 198043756 + 196466728 196559518 + 729574;1579879;1580863;6480464;6484113;6907045 7744004;14612425 15234964;19242610;18411304;18344974;18319301;18176785;17881449;17555715;17543336;17081983;16979207;16964243;16867995;16617111;16501114;16344560;16281055;16204230;15908432;15489334;15471851;15252450;15194762;15187108;15047871;15047825;14749374;12907671;12853446;12829691;12823590;12549935;12477932;12453877;12237306;12226077;12215529;11956071;11943200;11895474;11345898;11160719;11121037;11070003;10607567;10461188;10320322;10200518;10075701;10047984;9786869;9535855;9395435;9151826;16837009;11805089;10748018;7673144;7618083;7556080;1985906;16282498;15847608;17077296;16916529;16912329;16687395;15638726;14965316;12734410;11463741;9075929;11448168;16272310;12855553;9822598;12176041;17353931;10571231;11604131;15031289;16374509;18716323;19240112;19628037;19923322;20056178;2160950;2500966;20936779;20131316;20691406;20523167;20209159;21116278;20724730;21098037;21832049;22863883;21177766;21555521;21850710;21819585;22393057;19322201;21724829;20696164;16527308;17586321;17632197;17632570;17707624;18030346;18094167;18653452;18808677;19324886;19683683;20147394;20594957;21321123;21336563;21892329;22103831;22103837;22103838;22175768;22323535;22505724;22534017;22537596;22651890;22844345 5062 A8K5M4;H7C1X3;Q13177 ABBA01033754;ABBA01033755;ABBA01033756;ABBA01033757;ABBA01033758;AC055725;AC127904;AI140979;AK291339;AMYH01013797;AMYH01013798;BC031667;BC046197;BC063539;BC069613;BG572555;CA445078;DB164364;DQ786200;NG_009227;NM_002577;U24153;U25975 AAA65442;AAA75468;AAH69613;BAF84028;NP_002568;Q13177 Hs.518530 1676382;1689716;1694728;1697238;1745163;1796444;5015621;5022651;5037552;5099678;5492731 AU049777;D11S2921;D11S3732;D8S2279;GDB:595844;PAK2_1023;RH102113;RH11274;RH121965;RH70587;UniSTS:482146 PAK65;PAKgamma OTTHUMP00000208198;PAK-2;S6/H4 kinase;gamma-PAK;p21 (CDKN1A)-activated kinase 2;p21-activated kinase 2;p58;serine/threonine-protein kinase PAK 2 APPROVED protein-coding ENSG00000180370 8591 05428 605022 REVIEWED 1346880 PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 11 11 q13-q14 76710708 76862581 - 77033060 77185108 - 1580863;2299169;2299165;2299166;2299167;2299168;2299159;2299164;2299157;2299171;6480464;6484113;6907045 18347024;17486065;16753589;16705121;12165855;17621631;17533742;18167251;17997827 15688026;15652748;11748279;16964243;16845324;16800003;16611744;16490785;16449192;16407834;16344560;16246732;16204230;16033904;16026643;16002401;15893667;15864311;15849194;15833848;15831477;15824732;15784622;15761153;15749698;15684429;15611088;15561713;15556869;15542607;15489334;15378030;15350535;15345747;15333633;15324660;15225553;15169762;15161701;15059930;15047871;14970201;14749719;14707132;14702039;14694110;14607331;14580336;14579272;12189148;16278681;8805275;18029348;19162178;19136554;18923061;18922890;18787380;18676874;18586681;18448666;18411304;18392133;18354494;18344974;18319303;18314909;18160398;18086875;18065495;18006851;17981134;17911169;17609315;17491012;17420447;17355222;17255101;17018616;17012749;11948406;11864573;11804587;11733498;11719502;11604394;11557983;11397816;11382770;11371639;11340065;11278486;11278241;11157752;11134022;11030651;10995762;10975528;10967094;10938077;10805734;10772928;10652353;10611223;10559936;10551809;10461188;10358014;10330411;10330410;10205168;10092231;10026169;9852149;9823899;9774445;9774440;9705280;9659915;9533029;9528787;9395435;9351825;9298982;9234708;9032240;8824201;8107774;7744004;11463741;10559302;12009866;11689886;16091223;10713183;9792838;7797518;8939608;15638726;9371615;9070423;8862424;8709288;12734410;8709241;8108442;12650940;9535855;11130076;15193260;15975516;16025104;12944407;15735674;15735692;14530270;12937139;12912914;12887923;12887916;12879077;12855698;12624090;12606577;12560069;12551923;12531429;12522133;12477932;12453877;12374744;12237306;12198493;12154000;12151336;12138087;12089369;12085993;12011045;12006652;11956071;11950930;11950587;22105362;20400510;20079895;10706722;10802735;11604131;11950598;16101281;16413544;18656238;18716323;18854161;19165420;19296259;19298660;19520772;19557173;19574218;19610058;19628037;19747561;19819966;20056178;20083228;20179234;20379614;20417602;20508983;20426825;20457839;20413688;20526801;20131316;20523167;20811717;21070974;20001745;20729389;15597056;20595063;20936779;19667065;20213082;23055517;21209852;21310649;21653999;22983922;21722895;23017497;23455922;22369945;20591216;21982772;21719533;21900206;21727092;21969371;22105346;22100495;22130069;21474670;21748785;21139048;21906983;15673687;21822311;22096607;22153498;22293972;22419666;10372803;16002993;16551621;19327867;22416254;22458949;9851874;22318606;22493453;10360579;10684602;12228228;16678097;19910486;22945935;22252525;21832049;22848689;23258534;20171953;23393142;23503679;23535073;16452229;21988832;23246867;22845716;14759364;15075243;18653452;19146681;20594957;21562048;21892329;22465675;22505724;23019370;23038262 5058 B3KNX7;E9PJF8;E9PKH9;E9PM17;E9PMP2;E9PQW5;E9PRP6;H0YCG5;H0YCM0;H0YF55;Q13153 ABBA01017432;ABBA01017433;ABBA01017434;AF071884;AK055228;AK293098;AK295344;AK296006;AMYH01003824;AP000486;AP003680;BC050377;BC109298;BC109299;BE501896;BE502192;BI793123;BM451179;CH471076;DA393732;NG_029900;NM_001128620;NM_002576;U24152;U51120 AAA65441;AAC24716;AAC50590;AAI09300;ACE87778;ACT64444;BAF85787;BAG51489;BAH12038;BAH12236;EAW75026;EAW75027;EAW75028;EAW75029;NP_001122092;NP_002567;Q13153 Hs.435714 1334542;1338617;1646421;1664523;1687055;1737735;1790195;1792288;1797940;2146417;2147721 AI072234;D11S1789;D11S3332;D11S4079;D11S4697;D11S4714;PAK1_2112;PMC140666P2;RH94191;SHGC-35393;WI-19865 MGC130000;MGC130001;PAKalpha OTTHUMP00000228567;OTTHUMP00000228568;OTTHUMP00000228569;OTTHUMP00000228570;PAK-1;STE20 homolog, yeast;alpha-PAK;p21-activated kinase 1;p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast);p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related);p65-PAK;serine/threonine-protein kinase PAK 1 APPROVED protein-coding ENSG00000149269 8590 03995 602590 REVIEWED 731864 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of non-syndromic mental retardation X-linked type 30 (MRX30), also called X-linked mental retardation type 47 (MRX47). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X q23 110226256 110350816 + 110187513 110464173 + 1580863;6480464;6907045;7240710 18805672;18523455;16344560;16204230;15772651;15574732;15099969;14702039;12884430;12777533;12477932;12464619;12237306;11733498;11517222;11278553;11278486;11259591;11096073;10946356;10896954;10461188;10205168;9823899;9731525;9726964;9722579;9659915;9332663;9234708;9065412;8826460;8687195;11478794;14530271;18541383;20936779;20960100;19036346;20596523;21949127;21890473;21906983;11157984;15824104;22505724;11862216 5063 B1AKS5;B2RCU6;Q7Z2E4 AB102251;AB102252;AB102253;AB102254;AB102255;AB102256;AB102257;AB102258;AB102259;AB102260;AB102261;AB102262;AB102263;AB102264;AB102265;AB102266;AB102267;AB102268;AB102269;AB102270;AB102281;AB102282;AB102283;AB102284;AB102285;AB102286;AB102287;AB102288;AB102289;AB102290;AB102291;AB102292;AB102293;AB102294;AB102295;AB102296;AB102297;AB102298;AB102299;AB102300;AB102659;ABBA01043324;ABBA01043325;ABBA01043326;ABBA01043327;ABBA01043328;ABBA01043329;ABBA01043330;ABBA01043331;ABBA01043332;ABBA01043333;ABBA01043334;ABBA01043335;ABBA01043336;ABBA01043337;ABBA01043338;ABBA01043339;ABBA01043340;ABBA01043341;ABBA01043342;ABBA01043343;ABBA01043344;ABBA01043345;ABBA01043346;ABBA01043347;ABBA01043348;ABBA01043349;ABBA01043350;ABBA01043351;ABBA01043352;ABBA01043353;ABBA01043354;ABBA01043355;ABBA01043356;ABBA01043357;ABBA01043358;ABBA01043359;ABBA01043360;ABBA01043361;AF068864;AF155651;AI298548;AK128022;AK290504;AK315284;AL031117;AL117326;AL356578;AL357774;AL590809;AM943850;AM943851;AM943852;AMYH01022840;BC117353;BC117355;BC143544;BQ268758;CH471120;DA022842;DA957724;DB563607;NG_008288;NM_001128166;NM_001128167;NM_001128168;NM_001128172;NM_001128173;NM_002578 AAC36097;AAF67008;AAI52762;BAC80750;BAC80751;BAC80752;BAC80753;BAC80754;BAC80755;BAC80756;BAC80757;BAC80758;BAC80759;BAC80760;BAC80761;BAC80762;BAC80763;BAC80764;BAC80765;BAC80766;BAC80767;BAC80768;BAC80769;BAC80780;BAC80781;BAC80782;BAC80783;BAC80784;BAC80785;BAC80786;BAC80787;BAC80788;BAC80789;BAC80790;BAC80791;BAC80792;BAC80793;BAC80794;BAC80795;BAC80796;BAC80797;BAC80798;BAC80799;BAC81128;BAF83193;BAG37693;CAQ16016;CAQ16017;CAQ16018;EAX02653;EAX02654;NP_001121638;NP_001121639;NP_001121640;NP_001121644;NP_001121645;NP_002569;O75914 Hs.656789 1649695;1670341;1682597;1691672;1702070;1712565;1747901;1776802;1797942;2124377;2139759;2141969;5022806 AFM317wb9;AL031080;AL032605;DCX;DXS6944E;DXS7037E;DXS7481;DXS8346;G66773;PAK3_2323;RH66644;SHGC-32136;U39738 CDKN1A;MRX30;MRX47;OPHN3;PAK3beta;bPAK;hPAK3 OTTHUMP00000023855;OTTHUMP00000023856;OTTHUMP00000226621;OTTHUMP00000226622;PAK-3;beta-PAK;oligophrenin-3;p21 (CDKN1A)-activated kinase 3;p21-activated kinase 3;serine/threonine-protein kinase PAK 3 APPROVED protein-coding ENSG00000077264 8592 02142 300142;300558 REVIEWED 1323766 PAK7 p21 protein (Cdc42/Rac)-activated kinase 7 The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 20 20 p12 9466037 9767522 - 9518037 9819687 - 1580863;6480464;6907045 17620599;18628988;16581795;16189514;16014608;14702039;12897128;12477932;12032833;11950587;11780052;11756552;11733543;10880354;10837486;10574462;10521512;9381178;17353931;19415746;20379614;20877624;20564219;20936779;23106939;19060904;23251661 57144 B0AZM9;Q9P286 AB033090;AB040812;ABBA01053928;ABBA01053929;ABBA01053930;AK095674;AK291401;AK307926;AK315820;AL031652;AL031682;AL034427;AL133002;AL135935;AL353612;AMYH01011706;AX776013;BC024179;CH471133;NM_020341;NM_177990 AAH24179;ABM81820;ABM84974;BAA86578;BAA94194;BAF84090;BAF98711;BAG53104;CAB61350;CAE11706;EAX10357;EAX10358;EAX10359;EAX10360;NP_065074;NP_817127;Q9P286 Hs.32539 1655346;1669994;1670711;1689730;1693432;1716085;1720443;1734180;1747635;1796450;1856773;2121463;2173189;5094765 AL034531;ATTC013;D20S503;D20S723;D20S958;G18107;G59174;G65503;PAK7_1448;RH121007;RH12132;RH25698;WI-15350;Z94709 KIAA1264;MGC26232;PAK5 OTTHUMP00000030258;OTTHUMP00000030259;OTTHUMP00000030260;PAK-5;PAK-7;p21(CDKN1A)-activated kinase 7;p21-activated kinase 5;p21-activated kinase 7;p21CDKN1A-activated kinase 7;protein kinase PAK5;serine/threonine-protein kinase PAK 7;serine/threonine-protein kinase PAK7 APPROVED protein-coding ENSG00000101349 15916 06423 608038 REVIEWED 1317048 PAK4 p21 protein (Cdc42/Rac)-activated kinase 4 PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.2 44308260 44361886 + 39616420 39670046 + 1580863;6480464;6484113;6907045 17353931;9822598;19050074;18782768;18636970;18628988;18424072;18319301;17555715;17192257;17081983;16897755;16381901;16227624;16169070;15827085;15660133;15489336;15489334;15345747;15324660;14702039;14625312;12529371;12477932;12356872;11413130;11076863;10574461;10461188;11756552;15778465;20578242;20507994;19594544;19778628;18836286;20719960;20564219;20926745;20406887;20936779;20631255;21325635;21385901;21832049;21832093;20501374;20805321;21044950;22988085;15161933;21139048;21890473;22085492;17979178;22450748;23293332;23254288;22653441;22766504 10298 M0R0L9;M0R1R1;M0R2X4;M0R3G6;O96013 AB032968;ABBA01040720;ABBA01040721;AC011443;AF005046;AJ011855;AK074728;AK291839;AK293517;AK294586;AK300632;AK304651;AL834236;AMYH01009791;AX775863;AX775865;AX775867;AX775869;AX775871;BC002921;BC011368;BC025282;BC034511;BG773480;BM129363;CH471126;NM_001014831;NM_001014832;NM_001014834;NM_001014835;NM_005884 AAD01210;AAH02921;AAH11368;AAH25282;AAH34511;ABM81965;ABM85144;ACT64540;ACT64541;BAA86456;BAC11166;BAF84528;BAG56999;BAG57777;BAG62322;BAG65427;CAA09820;CAD38914;CAE11631;CAE11632;CAE11633;CAE11634;CAE11635;CAL37500;CAL37629;CAL38389;EAW56858;EAW56859;EAW56860;EAW56861;EAW56862;EAW56863;EAW56864;EAW56865;EAW56866;NP_001014831;NP_001014832;NP_001014834;NP_001014835;NP_005875;O96013 Hs.20447 1648825;1796446;5491559 MARC_20651-20652:1024691026:1;PAK4_473;RH12716 PAK-4;p21(CDKN1A)-activated kinase 4;p21-activated kinase 4;protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs;serine/threonine-protein kinase PAK 4 APPROVED protein-coding ENSG00000130669 16059 05675 605451 REVIEWED 1346451 PALD1 phosphatase domain containing, paladin 1 10 10 10 q22.1 65519663 65609972 + 71908570 71998211 + 72238564 72328206 + 6480464 19240061;15146197;14702039;12477932;10574462;19727444;21903422;22354871;21139048;21906983 27143 Q9ULE6 AB033100;ABBA01019628;ABBA01019629;ABBA01019630;ABBA01019631;AC022532;AK021806;AL355344;AMYH01002812;BC015004;BC040163;BC048195;BC136375;BC136376;CH471083;CN335744;NM_014431 AAI36376;AAI36377;BAA86588;EAW54404;EAW54405;EAW54406;NP_055246;Q9ULE6 Hs.202351 1646569;1731084;1779552;1779984;2219440 D10S292;PALD__5817;SGC30714;SHGC-153524;SHGC-154231 KIAA1274;PALD OTTHUMP00000019757;paladin;palladin APPROVED protein-coding ENSG00000107719 23530 11419 614656 VALIDATED 2803038 PALM3 paralemmin 3 19 19 19 p13.12 14057978 14063772 - 14025179 14030971 - 14164179 14169971 - 10737800;15057824;21187075 342979 A6NDB9;K7EKN5 ABBA01029694;ABBA01029695;AC022098;AMYH01009518;AMYH01009519;AW130597;BG014761;CR747190;NM_001145028 A6NDB9;NP_001138500 Hs.444298 1847250 D19S662E paralemmin-3 protein-coding ENSG00000187867 33274 VALIDATED 1314703 PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 15 15 q14 38319368 38356979 + 40509629 40569688 + 1580863;6480464;6907045 17353931;18676680;18642328;18465753;16344560;15550393;15489334;14573606;12477932;11773441;11278661;22087225;17584649;19170196;19625176;20453000;20524398;19692168;20936779;19362342;20054820;20070256;20817787;22339630;23132866;21832049;21900206;22623531;21988832;22939624;23251661 56924 B3KYB0;G5E9R2;H0YK38;H0YK74;H0YK91;H0YKB6;H0YL02;H0YL16;H0YL47;H0YLZ9;H0YM99;H0YMS4;Q9NQU5 ABBA01038455;ABBA01038456;ABBA01038457;AC020658;AC025429;AF276893;AJ236915;AK026592;AK131522;AK290227;AK315813;AK315817;AMYH01006558;BC035596;CH471125;CS300520;DA191028;DA229537;DA414215;HH961848;HY128655;NG_033169;NM_001128628;NM_001128629;NM_001276717;NM_001276718;NM_020168 AAF82800;AAH35596;ABM83035;ABM86229;BAF82916;BAF98704;BAF98708;BAG54772;CAC18720;CAK32184;CBX51397;EAW92395;EAW92396;EAW92397;EAW92398;EAW92399;EAW92400;EAW92401;NP_001122100;NP_001122101;NP_001263646;NP_001263647;NP_064553;Q9NQU5 Hs.513645;Hs.732375;Hs.745440 1673098;1700574;1707852;1715713;1796448;2118217;2119104;2171962;5014053 D1S3693;PAK6_1025;RH103909;RH119303;RH15701;RH46590;SHGC-56872;SHGC-82160;WI-21468 PAK5 OTTHUMP00000160372;PAK-5;PAK-6;p21(CDKN1A)-activated kinase 6;p21-activated kinase 6;p21-activated protein kinase 6;serine/threonine-protein kinase PAK 6 APPROVED protein-coding ENSG00000137843 16061 06426 608110 REVIEWED 1605949 PALB2 partner and localizer of BRCA2 This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008] 16 16 p12.2 23521984 23560179 - 23614483 23652678 - 2325776;2325779;6480464;7240710 19264984;20436683 19383810;19369211;19333784;19328558;19308021;19011769;18794107;18637200;18628482;18557994;18501021;18446436;18302019;18288683;18281473;21285249;20872766;17554300;17420451;17287723;17200672;17200671;17200668;16793542;16344560;15489334;15302935;14702039;12477932;18053174;21113654;19268590;19423707;19504183;19536649;19553677;19584259;19609323;19690177;19748364;19763819;19763884;19863560;19921424;20003494;20091115;20122277;20180015;20213081;20927582;20871615;20871616;19714462;19913121;20582465;20589654;20628086;20722467;20412113;20518497;21637299;20852946;21184274;21182766;20332121;21153565;21365267;21165770;21618343;23657012;21415078;21409391;21614589;21932393;22310028;22692731;21989927;22241545;15174051;23110154;22052327;22194698;20301425;20301575;21254220;22193777;22331464;22505525;23453885;23302520;23038782 79728 H3BN63;H3BPY6;I3L1Z5;I3L2S5;I3L3R6;Q86YC2 ABBA01017067;ABBA01017068;ABBA01017069;ABBA01017070;ABBA01017071;ABBA01017072;AC008870;AK025469;AK097533;AK299152;AL834425;AMYH01007382;AMYH01007383;BC044254;BE670820;BX647125;BX647130;CH471145;CR749637;DA192828;GM006654;NG_007406;NM_024675 AAH44254;ACE86531;ACE87210;BAB15140;BAC05090;BAG61201;CAD39086;CAH18431;CAS97368;EAW55811;EAW55812;EAW55813;NP_078951;Q86YC2 Hs.444664 1658595;1683713;2180791 RH65008;RH67994;RH68430 DKFZp667I166;DKFZp686E1054;FANCN;FLJ21816;PNCA3 partner and localizer of BRCA2 APPROVED protein-coding ENSG00000083093 26144 07966 114480;610355;610832;613348 REVIEWED 1603446 PALM2-AKAP2 PALM2-AKAP2 readthrough PALM2-AKAP2 mRNAs are naturally occurring read-through products of the neighboring PALM2 and AKAP2 genes. The significance of these read-through mRNAs and the function the resulting fusion protein products have not yet been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms, but the full-length nature of some of these variants has not been defined. [provided by RefSeq, Oct 2010] 9 9 9 q31.3 83044274 83436417 + 111582398 111974613 + 112542577 112934792 + 6480464 17273791;12672969;12646697;12477932;11478809;11181995;10231032;9497389;20967262;19893584;20379614;22863883;21906983;23251661 445815 B1ALY0;Q9Y2D5 AB023137;ABBA01042752;ABBA01042753;ABBA01042754;ABBA01042755;ABBA01042756;ABBA01042757;ABBA01042758;AJ303079;AJ312217;AL158823;AL158829;AL353598;AL353806;AL627225;AMYH01021624;AMYH01021625;AMYH01021626;BC140818;BX649126;CH471105;NM_007203;NM_147150 AAI40819;BAA76764;CAC38839;CAC59702;EAW59051;EAW59052;EAW59054;EAW59055;EAW59057;NP_009134;NP_671492 Hs.591908 1340573;1656172;1699026;1700112;1704536;1719999;1727381;1749595;1753827;1755889;1761685;1765345;1779502;2122605;2185400;2219442;5105685 D9S2026;G36153;G63098;PALM2__5819;RH103086;RH103669;RH123977;SHGC-100579;SHGC-111282;SHGC-142729;SHGC-142818;SHGC-145662;SHGC-148840;SHGC-153477;SHGC-83065;STS-AA007589;STS-AA040279 AKAP2;DKFZp686H1948 OTTHUMP00000021887;OTTHUMP00000021889;OTTHUMP00000215853;PALM2-AKAP2 protein;PALM2-AKAP2 readthrough transcript APPROVED protein-coding ENSG00000157654 33529 09197;18661 VALIDATED 1604638 PALLD palladin, cytoskeletal associated protein This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 4 4 q32.3 169654792 170086183 + 169418217 169849608 + 2325782;2325786;2325781;2325779;6480464;7240710 17194196;12932445;17404500;20436683 16125169;11598191;19336541;19056482;19023099;18978809;18521091;18073581;17975119;17967605;17687002;17537434;17525332;17515952;17455999;17415588;17322171;17287340;17228136;17081983;16964243;16794588;16367745;16175505;15815621;15489334;15310273;15147863;14702039;12601173;12477932;12191018;11870593;11309420;10931874;10810093;10231032;1159819;19913121;20628086;20708005;21054356;20811713;16344560;16355270;19205907;19709766;19752551;20379614;20471940;21050850;22990118;22939629;21868544;21782789;21738681;23000965;21139048;21906983;22291919;22216253;16009940 23022 B2RTX2;D6R948;D6R9F5;D6R9Z5;D6RBB1;D6RBH5;F8WA26;F8WC13;H0Y952;H0YA05;Q9UGA0 AB023209;ABBA01070331;ABBA01070332;ABBA01070333;AC079858;AC079926;AC080188;AC084353;AC115538;AF077041;AF151909;AF464873;AI418424;AK000845;AK025843;AK095512;AK096458;AL050093;AMYH01014697;AMYH01014698;AMYH01014699;AW248292;AY211921;BC013867;BC140850;BC144666;BX537391;CH471056;DA048169;DA211938;DB257974;NG_013376;NM_001166108;NM_001166109;NM_001166110;NM_016081 AAD27774;AAD34146;AAH13867;AAI40851;AAI44667;AAL69964;AAO65174;AAY40987;BAA76836;BAC04796;BAG53074;CAB43265;CAD97633;EAX04799;NP_001159580;NP_001159581;NP_001159582;NP_057165;Q8WX93 Hs.151220 1334754;1335511;1336329;1338644;1655691;1659531;1659972;1660455;1670293;1695096;1701380;1735358;1751951;1755495;1755697;1759125;1763575;1764073;1766421;1768552;1779442;1854873;1857380;2122924;2125755;2130125;2132514;2169329;2170245;2170617;2172039;2173464;2173941;2182074;2183301;5491740;7186907;7187936 AFMA054YF9;AFMa142xd5;D4S1597;D4S2414;D4S2483E;D4S2979;D4S3030;D4S3154;D4S3301;D4S393;D4S698;G01956;G17047;G34351;KIAA0922;RH104320;RH18402;SHGC-105947;SHGC-142357;SHGC-142536;SHGC-147272;SHGC-147727;SHGC-14903;SHGC-149759;SHGC-150566;SHGC-153423;SHGC-31316;SHGC-50161;SHGC-51345;SHGC-51601;SHGC-51756;SHGC-64128;SHGC-67262;SHGC-67960;SHGC-8537;SHGC4-1494;SHGC4-1674 CGI-151;CGI151;FLJ22190;FLJ38193;FLJ39139;FLJ61376;KIAA0992;MYN;PNCA1;SIH002 OTTHUMP00000219711;OTTHUMP00000219712;OTTHUMP00000219714;OTTHUMP00000219715;myoneurin;palladin;sarcoma antigen NY-SAR-77 APPROVED protein-coding ENSG00000129116 17068 09731 606856;608092 REVIEWED 1344376 PALM paralemmin This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 68034 107470 - 659953 699330 + 708953 748330 + 724596;1580863;6480464 9813098 9615234;17081983;16386234;16344560;15489334;15342556;15146197;15057824;14978216;14702039;12477932;9039502;8889548;17207965;21906983;21044950 5064 B7Z6Y8;O75781 ABBA01002586;ABBA01002587;ABBA01002588;AC004030;AC005763;AK022919;AK301181;AK315168;AMYH01009200;AMYH01009201;BC019596;BC032449;BM667870;BP199809;BU508077;CH471242;CN344023;D87460;DA521203;NM_001040134;NM_002579;Y14770;Y16270;Y16271;Y16272;Y16273;Y16274;Y16275;Y16276;Y16277;Y16278 AAC62429;AAH32449;ADQ31814;BAA13400;BAG37611;BAG51135;BAH13424;CAA76151;CAA76152;CAB37400;CAB37401;EAW61161;EAW61162;EAW61163;EAW61164;NP_001035224;NP_002570;O75781 Hs.631841 2155534;2161779 RH68314;STS-N25536 KIAA0270 paralemmin;paralemmin-1 APPROVED protein-coding ENSG00000099864 8594 09734 608134 REVIEWED 1350120 PALM2 paralemmin 2 9 9 9 q31.3 82902408 83215479 + 111442893 111753577 + 112403068 112713756 + 1580863;6480464 18978678;15489334;15164053;14702039;12477932;11478809;11181995;19893584;20306291;20379614;8889548;22939629;22456796;23251661 114299 C9JA33;C9JZH4;D3YTA4;Q8IXS6 ABBA01042756;ABBA01042757;ABBA01042758;ABBA01042759;ABBA01042760;AJ312216;AK095003;AL135789;AMYH01021623;AMYH01021624;AMYH01021625;BC039306;BQ187933;CH471105;NM_001037293;NM_053016 AAH39306;BAC04472;CAC59693;EAW59053;EAW59056;NP_001032370;NP_443749;Q8IXS6 Hs.591908 1340573;1713861;1721617;1722393;1726773;1738287;1756019;1761685;1765345;1768638;2219442;5015961;5016675 D15S1477;D9S2026;D9S311;D9S953;G59819;G60269;G62776;PALM2__5819;RH119362;RH79740;SHGC-142833;SHGC-145662;SHGC-148840 AKAP2 A kinase (PRKA) anchor protein 2;OTTHUMP00000021888;OTTHUMP00000021889;OTTHUMP00000021890;OTTHUMP00000215851;OTTHUMP00000215852;paralemmin-2 protein-coding ENSG00000243444 15845 17817 VALIDATED 1313763 PALMD palmdelphin 1 1 1 p22-p21 98366338 98414955 + 99884182 99932847 + 100111431 100160097 + 1580863;6480464 17081983;15851553;15489334;14702039;12477932;11707320;11478809;19531213;19584346;20379614 54873 Q9NP74 ABBA01045449;AC105270;AF262379;AJ312214;AK000278;AK024654;AL390969;AL390970;AL390971;AL390972;AL390973;AMYH01000824;BC012570;BX648213;CH471097;CK429905;NM_017734 AAH12570;AAL33879;BAA91047;BAB14946;CAC01335;CAC01336;CAC01337;CAC01338;CAC59692;EAW72989;EAW72990;NP_060204;Q9NP74 Hs.483993 1679900;1719347;1736070;2144622;2153104;2165445;2174149 D1S2012E;RH123400;RH80110;SHGC-75211;SHGC-75219;SHGC-75221;WI-11664 C1orf11;FLJ20271;PALML OTTHUMP00000012464;palmdelphin;paralemmin-like protein;paralemnin-like protein protein-coding ENSG00000099260 15846 06673 610182 VALIDATED 7204600 PANDAR promoter of CDKN1A antisense DNA damage activated RNA p21.2 21642992 101154753 JF803844 Hs.741557 PANDA miscrna 44048 735807 PAM peptidylglycine alpha-amidating monooxygenase This gene encodes a multifunctional protein. It has two enzymatically active domains with catalytic activities - peptidylglycine alpha-hydroxylating monooxygenase (PHM) and peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL). These catalytic domains work sequentially to catalyze neuroendocrine peptides to active alpha-amidated products. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene but some of their full length sequences are not yet known. [provided by RefSeq, Jul 2008] 5 5 q14-q21 102229426 102393316 + 102201527 102366809 + 1580863;1357926;2302427;6480464;6483769;6483575;6483514;6483527 11874690;8940376;11221851;11742033;18818385;17138865 7590286;7999037;9837933;2357221;17081983;16107699;15489334;12699694;12477932;12364573;11668475;10574929;9562574;9139723;9110174;8619474;8543779;8530412;8518727;8486658;8288234;8144680;8102327;8094086;7760848;1448112;14559897;7606087;16344560;19571808;19693765;20351714;20379614;20534529;22554821;15840729;22080626;21890473;21906983 5066 A6NMH0;D6R961;D6RAQ2;D6RCD5;D6RDU2;D6RF09;D6RG20;F8W8D9;F8WE90;H0Y9I4;H7BYD9;Q86U53 AB095007;ABBA01069149;ABBA01069150;AC008779;AC010250;AC113373;AF010472;AF035320;AK290158;AK296521;AMYH01015515;AMYH01015516;BC018127;BI966687;BT007419;CH471086;DA240822;HI573898;HI573900;HI573902;HI573904;M37721;NG_029444;NM_000919;NM_001177306;NM_138766;NM_138821;NM_138822;NR_033440;S75037;S75038;U19965;U19966 AAA36414;AAB32775;AAB32776;AAB88190;AAB91431;AAB91432;AAD01439;AAH18127;AAP36087;BAC22594;BAF82847;BAG59152;CBX47438;CBX47439;CBX47440;CBX47441;EAW49084;EAW49085;EAW49086;EAW49087;EAW49088;EAW49089;EAW49090;EAW49091;EAW49092;NP_000910;NP_001170777;NP_620121;NP_620176;NP_620177;P19021 Hs.369430 1664656;1712228;1713079;1735484;1771310;2131546;2149350;2169593;5016502 D5S1604E;D5S2479;D5S2683;G54022;GDB:574038;L28188;RH120327;RH67974;STS-M37721 PAL;PHM OTTHUMP00000158920;OTTHUMP00000158921;OTTHUMP00000158922;OTTHUMP00000158923;OTTHUMP00000222752;OTTHUMP00000222753;OTTHUMP00000227957;pancreatic peptidylglycine alpha-amidating monooxygenase;peptidyl alpha-amidating enzyme;peptidyl-alpha-hydroxyglycine alpha-amidating lyase;peptidyl-glycine alpha-amidating monooxygenase;peptidylamidoglycolate lyase;peptidylglycine 2-hydroxylase;peptidylglycine alpha-hydroxylating monooxygenase APPROVED protein-coding ENSG00000145730 8596 01361 170270 REVIEWED 1603048 PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae) 16 16 16 p13.3 4597200 4610208 - 4330253 4341301 - 4390252 4401373 - 6480464 15704001;15489334;14702039;12477932;11750097;10810093;16169070;17207965;20877624;20719856;20053669;22939629;21900206;21890473 51025 I3L0X9;I3L1K9;I3L1U7;I3L3G8;I3L3T0;Q9Y3D7 ABBA01026770;AC012676;AF151894;AF349455;AK026514;AMYH01007103;BC005024;BG715429;CH471112;CR457362;CS072359;NM_016069 AAD34131;AAH05024;AAL57767;ADQ32402;BAB15494;CAG33643;CAI93497;EAW85315;NP_057153;Q9Y3D7 Hs.730693 1700658;2150834;2184210 RH103952;SHGC-57722;WI-11319 CGI-136;Magmas;TIMM16;Tim16 OTTHUMP00000159840;magmas-like protein;mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction;mitochondria-associated granulocyte macrophage CSF-signaling molecule;mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction;mitochondrial import inner membrane translocase subunit Tim16;presequence translocated-associated motor subunit PAM16 APPROVED protein-coding ENSG00000217930 29679 14798 614336 VALIDATED 5131763 PAN3-AS1 PAN3 antisense RNA 1 13 13 q12.2 9786081 9788412 - 28710980 28713311 - 12477932 100288730 ABBA01035729;AK307165;AL356915;AMYH01004993;BC045730;DC343344;NR_029383 Hs.123191 1737425;2166163 D13S996;RH45108 APPROVED miscrna 39932 VALIDATED 1604026 PAMR1 peptidase domain containing associated with muscle regeneration 1 11 11 11 p13 35600693 35694461 - 35409950 35503752 - 35453374 35547176 - 6480464 15111323;14702039;12975309;12477932;20379614 25891 A8MQ58;E9PIV1;E9PMN5;E9PQ70;Q6UXH9 ABBA01060857;ABBA01060858;ABBA01060859;ABBA01060860;AC090625;AF370388;AK027841;AK297092;AK300185;AK316188;AL050214;AL354921;AL832391;AMYH01003489;AY358346;BC038457;BC089434;BX640676;CH471064;NM_001001991;NM_015430 AAH89434;AAQ15224;AAQ88712;BAB55404;BAH12494;BAH13231;BAH14559;CAB43317;CAE45808;CAI46203;EAW68140;NP_001001991;NP_056245;Q6UXH9 Hs.55044 1703428;1711276;1723107;1726963 G62727;RH123740;SHGC-68804;SHGC-89277 DKFZP586H2123;FP938;RAMP OTTHUMP00000232625;OTTHUMP00000232626;OTTHUMP00000232627;OTTHUMP00000232628;inactive serine protease PAMR1;peptidase domain-containing protein associated with muscle regeneration 1;regeneration associated muscle protease;regeneration-associated muscle protease homolog protein-coding ENSG00000149090 24554 07104 VALIDATED 1348496 PAN2 PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 12 12 12 q13.2 56362795 56381209 - 54996987 55014017 - 56710007 56727837 - 6480464 16964243;16344560;16284618;14715245;14702039;14583602;12838346;12477932;11148209;9734811;15489334;19913121;20628086;17785442;18056425;19615732;23105109;21139048;21890473;23398456 9924 F8VXK8;Q504Q3 AB014610;AB107585;ABBA01008420;ABBA01008421;ABBA01008422;AC025574;AC073896;AK001232;AK096679;AK310822;AMYH01004504;BC024043;BC094885;BX648106;CH471054;DB290197;DB458902;NM_001127460;NM_001166279;NM_014871 AAH24043;AAH94885;BAA31685;BAD02263;BAG50873;EAW96928;EAW96929;EAW96930;EAW96931;EAW96932;NP_001120932;NP_001159751;NP_055686;Q504Q3 Hs.273397 1643727;1746819;1773084;1782602;2110027;5109281 D1S1425;G64805;RH47494;SHGC-142707;STS-W80474;USP52_9019 FLJ39360;KIAA0710;USP52;hPAN2 OTTHUMP00000243750;OTTHUMP00000243751;OTTHUMP00000243752;PAB-dependent poly(A)-specific ribonuclease subunit 2;PABP-dependent poly(A) nuclease 2;PAN2 polyA specific ribonuclease subunit;inactive ubiquitin carboxyl-terminal hydrolase 52;ubiquitin specific peptidase 52;ubiquitin specific protease 52 APPROVED protein-coding ENSG00000135473 20074 15640 REVIEWED 1603874 PAN3 PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 13 13 13 q12.2 9787744 9944258 + 27646417 27767472 + 28712643 28869475 + 6480464 17785442;15489334;15057823;14702039;14583602;12975309;12477932;18056425;19615732;18029348;20309963;21139048;21906983;19322201;22505724;23398456 255967 Q5T515;Q6ZMN5 AB107584;AB109552;ABBA01035726;ABBA01035727;ABBA01035728;ABBA01035729;AK091307;AK131556;AK296435;AL138712;AL356915;AMYH01004993;AMYH01004994;AY358261;BC024318;BC128179;BC128180;BE671612;BX647740;CH471075;NM_175854 AAH24318;AAI28180;AAI28181;AAQ88628;BAC03632;BAD02262;BAD18690;BAD93184;BAH12353;CAI45987;EAX08430;NP_787050;Q58A45 Hs.645015 1648830;1666954;1668933;1670822;1673741;1680313;1704490;1711298;1737425;1739799;1773090;1849535;1851841;2126064;2137339;2154472;2166163;2180271;5017749;5093666;5093736 A006U27;A009U34;A009V42;D13S1215E;D13S996;G31458;G32852;G32893;PAN3;RH15685;RH44945;RH45108;RH45240;RH45261;RH66714;RH93771;SGC34512;SHGC-4662;SHGC-82992;SHGC-84900;SHGC-9475 OTTHUMP00000018179;OTTHUMP00000018180;PAB-dependent poly(A)-specific ribonuclease subunit 3;PABP-dependent poly(A) nuclease 3;PABP1-dependent poly A-specific ribonuclease subunit PAN3;hPan3 protein-coding 29991 17818 VALIDATED 1351582 PANX3 pannexin 3 The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008] 11 11 11 q24.2 121641631 121650429 + 123986663 123995462 + 124481453 124490252 + 1580863;6480464 17925379;15028292;14597722;20086016;20404334;22947051;16147992 116337 Q96QZ0 AA456140;ABBA01031255;AF406650;AMYH01004103;AP001524;CH471065;NM_052959 AAI52945;AAK95655;EAW67588;NP_443191;Q96QZ0 Hs.99235 1684758 RH99055 PX3 OTTHUMP00000231522;gap junction protein pannexin 3;pannexin-3 APPROVED protein-coding ENSG00000154143 20573 16334 608422 REVIEWED 1312259 PANK1 pantothenate kinase 1 This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] 10 10 10 q23.31 85089566 85152033 - 91332729 91395195 - 91339254 91405329 - 1580863;6480464;6907045 14523052;19060910;17631502;15489334;15164054;12477932;12379284;11809413;11479594;2981478;18029348;16385451;20379614;20833636;15161933;19322201 53354 Q8TE04 ABBA01021945;AF355198;AK057932;AK125428;AK127777;AL157400;AMYH01002934;AY027661;AY027662;AY027663;BC026296;BC036934;BK000008;BK000009;CH471066;NG_029474;NM_138316;NM_148977;NM_148978 AAH26296;AAI56382;AAI72476;AAK20916;AAK20917;AAK20918;AAL86371;BAG54195;BAG54569;DAA00002;DAA00003;EAW50130;EAW50131;EAW50132;EAW50133;NP_612189;NP_683878;NP_683879;Q8TE04 Hs.163555 1663081;1664752;1664754;1727855;1754383;1782076;1847789;2122780;2126787;2142077;2159220;2219446;5015619;5037552 A005K48;D11S3114;D8S2279;G20295;G63343;PANK1__5821;RH78326;SHGC-132396;SHGC-154001;SHGC-2617;STS-F09841;STS-Z40596;WI-11734;WI-18510 MGC24596;PANK;PANK1a;PANK1b OTTHUMP00000020071;OTTHUMP00000020072;hPanK;hPanK1;pantothenate kinase 1;pantothenic acid kinase 1 APPROVED protein-coding 8598 07549 606160 REVIEWED 1313038 PANK2 pantothenate kinase 2 This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 20 20 p13 3817486 3852502 + 3869486 3904502 + 731233;1580863;6480464;6907045;7240710 11479594 22103354;22221393;17903678;17825826;17631502;17242360;17101457;16962235;16450344;16437574;16272150;16240131;15911822;15843062;15793782;15747360;15659606;15465096;15390030;15105273;14743358;14702039;14639680;12554685;12477932;12058097;11780052;8944032;2981478;17353931;18239249;18074375;18006953;21442655;20925075;18029348;20877624;19224615;20006850;20721927;20603201;20301663;21198414;22692681;23166001;20551478;21906983;21890473;21963094;23000965;23447832 80025 Q6P1K9;Q8TCR5 ABBA01053840;ABBA01053841;AF086501;AF494409;AK021791;AK097796;AK310190;AL031670;AL353194;AL519408;AL532307;AL713654;AMYH01011679;BC009421;BC065019;BC093633;BC101569;BC101571;BC107724;BC142976;BF698882;BK000010;CH471133;NG_008131;NM_024960;NM_153638;NM_153640 AAH65019;AAH93633;AAI01570;AAI01572;AAN32907;BAB13897;BAC05173;CAD28463;DAA00004;EAX10476;EAX10478;NP_079236;NP_705902;NP_705904;Q9BZ23 Hs.516859 1648608;1658221;2142449;5015619 D11S3114;RH11899;RH48352;WI-17847 C20orf48;FLJ17232;HARP;HSS;MGC15053;NBIA1;PKAN Hallervorden-Spatz syndrome;OTTHUMP00000030143;OTTHUMP00000030148;hPanK2;pantothenate kinase 2, mitochondrial;pantothenic acid kinase 2 APPROVED protein-coding ENSG00000125779 15894 234200;606157;607236 REVIEWED 1315054 PAPD4 PAP associated domain containing 4 5 5 5 q14.1 74808017 74882249 + 78944152 79017858 + 78908243 78982471 + 737633;6480464 12477932 15070731;16344560;15146197;14702039;18172165;20144904;23200856;23063654;21700879;21995630;19322201;22727665;23382691 167153 D6RAF2;Q6PIY7 ABBA01062023;ABBA01062024;ABBA01062025;ABBA01062026;AC008482;AK095818;AL833136;AMYH01015437;AMYH01015438;AMYH01015439;BC026061;BC047581;CH471084;CN348312;DB142133;NM_001114393;NM_001114394;NM_173797 AAH26061;AAH47581;BAC04629;EAW95837;EAW95838;NP_001107865;NP_001107866;NP_776158;Q6PIY7 Hs.418198 1643799;1660399;1662259;1670088;1681706;1690566;1733696;1733698;1749777;2135516;2186217;7184862;7184863 D5S2605;D5S544;D5S682;EST475009;G29132;G31507;RH36165;RH80878;RH93422;SHGC-111524;SHGC-56592 FLJ38499;GLD2 OTTHUMP00000135303;OTTHUMP00000222201;OTTHUMP00000222247;PAP-associated domain-containing protein 4;TUTase 2;hGLD-2;poly(A) RNA polymerase GLD2;terminal uridylyltransferase 2 protein-coding ENSG00000164329 26776 15098 614121 VALIDATED 1321488 PANK3 pantothenate kinase 3 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008] 5 5 5 q34 164017978 164041945 - 167915208 167939166 - 167982628 168006614 - 731233;1580863;6480464;6907045 11479594 14702039;12477932;8125298;2981478;17631502;15489334;1695905;20797618;18029348;21139048;21890473;21906983;19322201 79646 E5RHA5;Q9H999 AA831520;ABBA01044122;AC020894;AK022961;AK223285;AMYH01015796;BC013705;BC047113;BK000011;BX648891;CB045475;CH471062;M55536;NM_024594 AAH13705;BAB14333;BAD97005;DAA00005;EAW61503;EAW61504;EAW61505;NP_078870;Q9H999 Hs.388400;Hs.591729 1676316;1777882;1780516;1788442;1854298;2153634;2170900 RH68356;RH69142;RH93527;UniSTS:14879;WI-15765;bac51013S;fe05g09.x1 DKFZp686O22247;FLJ12899;MGC16863 OTTHUMP00000160961;hPanK3;pantothenate kinase 3;pantothenic acid kinase 3 APPROVED protein-coding 19365 07312 606161 REVIEWED 1347653 PANX1 pannexin 1 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008] 11 11 q21 93501742 93554786 + 93862094 93915138 + 1580863;6480464 22311122;17036048;19150332;19056988;18596211;17925379;17715132;17240370;16908669;16690868;16682648;16303743;15489334;15028292;14597722;22311983;22753409;12975309;12477932;20628624;18029348;19213873;20086016;20516070;20622111;20944749;20884646;20660288;22947051;22972801;21791690;21659516;21606493;21865551;21139048;21906983;21859844;23033481 24145 Q96RD7 ABBA01040034;AF398508;AF398509;AK074897;AK313074;AMYH01003964;AMYH01003965;AP002784;AP003966;AY048509;AY359023;BC016931;CA418094;CH471065;CQ782865;FM201789;NG_027936;NM_015368 AAH16931;AAK91713;AAK91714;AAL06604;AAQ89382;BAC11276;CAF86093;CAR31475;EAW66924;EAW66925;EAW66926;NP_056183;Q96RD7 Hs.591976 1766053;1857232 SHGC-149437;WIAF-1483 MGC21309;MRS1;PX1;UNQ2529 OTTHUMP00000236764;OTTHUMP00000236765;innexin;pannexin-1 APPROVED protein-coding ENSG00000110218 8599 10526 608420 REVIEWED 1320003 PAPD5 PAP associated domain containing 5 16 16 16 q12.1 34701222 34783612 + 48745569 48826722 + 50186829 50269221 + 1580863;6480464 14702039;12477932;10066793;8125298;19322201;21628590;18172165;20379614;21788334;21878619 64282 E9PC61;H3BQM0;Q8NDF8 ABBA01000878;ABBA01000879;AC007597;AC007610;AF089897;AK001141;AK097589;AK098806;AK223410;AK299294;AK300918;AL833922;AMYH01007658;AMYH01007659;BC035270;BC089405;BC143706;CH471092;DN994465;FR872509;NM_001040284;NM_001040285 AAD45199;AAH89405;AAI43707;AAI56330;AAI57080;BAA91518;BAD97130;BAG61309;BAG62550;CAD38778;CCB84642;EAW82747;EAW82748;EAW82749;EAW82750;NP_001035374;NP_001035375;Q8NDF8 Hs.514342 1677360;2160457;5093610 A009S35;G32820;RH65016 FLJ40270;TRF4-2 PAP-associated domain-containing protein 5;TUTase 3;terminal uridylyltransferase 3;topoisomerase-related function protein 4-2 protein-coding ENSG00000121274 30758 16119 605540 VALIDATED 731329 PANK4 pantothenate kinase 4 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008] 1 1 1 p36.32 127937 146325 + 2429835 2447895 - 2439975 2458035 - 731233;1580863;6480464;6907045 11479594 16710414;16132722;16038259;15489334;14702039;12477932;8125298;2981478;18029348;16169070;22863883;22939629;21139048;21890473;21906983;18508765;21963094;23251661 55229 D6RJF3;E9PHT6;H0Y9E4;H0YA02;H0YA26;H0YA31;Q9NVE7 ABBA01016098;ABBA01016099;AK001644;AK223546;AK295301;AK303127;AK309860;AL139246;AL442072;AMYH01000175;BC043496;BK000012;BK000013;CH471183;CR749728;NM_018216 AAH43496;BAA91805;BAD97266;BAG58281;BAG64233;CAC09438;CAH18490;DAA00006;DAA00007;EAW56097;EAW56098;EAW56099;NP_060686;Q9NVE7 Hs.26156 2162437;2219448 PANK4__5823;SHGC-74070 DKFZp547M242;FLJ10782 OTTHUMP00000000865;OTTHUMP00000220861;OTTHUMP00000220862;hPanK4;pantothenate kinase 4;pantothenic acid kinase 4 APPROVED protein-coding ENSG00000157881 19366 07313 606162 REVIEWED 1349764 PANX2 pannexin 2 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 22 22 22 q13.33 34484072 34493636 + 48951317 48960848 + 50609160 50618724 + 1580863;6480464 17474147;17427027;16989724;16344560;15461802;15028292;14702039;14597722;12477932;10591208;8889548;19749789;19851296;20198315;20516070 56666 B3KTT7;F8W8Y4;Q495U3;Q96RD6 ABBA01011372;AF398510;AF398511;AK096019;AK123508;AK299910;AL022328;AMYH01012894;BC101023;BQ576292;BU732466;BU734128;CA432022;CH471138;CR456467;DA116770;DA127683;NM_001160300;NM_052839;NR_027691 AAI01024;AAK91715;AAK91716;BAG53199;BAH13170;CAG30353;CAK54448;CAK54747;EAW73494;EAW73495;EAW73496;NP_001153772;NP_443071;Q96RD6 Hs.440092 MGC119432;PX2;hPANX2 OTTHUMP00000028557;OTTHUMP00000196720;pannexin-2 APPROVED protein-coding ENSG00000073150 8600 09760 608421 REVIEWED 1604436 PAPL iron/zinc purple acid phosphatase-like protein Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008] 19 19 19 q13.2 36377378 36404537 + 44266785 44293318 + 39574945 39602129 + 16793224;12477932;21490949 390928 Q6ZNF0 ABBA01040719;ABBA01040720;AC011443;AK131245;AMYH01009790;BC127841;BC136721;BC136722;BC142613;BC150149;CH471126;NM_001004318 AAI36722;AAI36723;BAD18425;EAW56857;NP_001004318;Q6ZNF0 Hs.448934 1853660 GDB:313755 FLJ16165 iron/zinc purple acid phosphatase-like protein;purple acid phosphatase long form APPROVED protein-coding ENSG00000183760 13361 610490 VALIDATED 1320571 PAOX polyamine oxidase (exo-N4-amino) 10 10 10 q26.3 128312520 128324936 - 135042731 135055188 + 135192741 135205198 + 6480464;7244190;7244193 15541750;13678416 16354669;16207710;15489334;14702039;12975309;12660232;12477932;12477380;20405312;20178365 196743 Q8NCX3 ABBA01006216;AF226657;AF312698;AK124186;AK128001;AL360181;AL834535;AMYH01003240;AY358418;AY541513;AY541514;AY541515;AY541516;AY541517;AY541518;AY541519;AY541520;AY541521;AY541522;AY541523;AY541524;BC032778;BE646315;CH471211;NM_152911;NM_207127;NM_207128 AAH32778;AAN40706;AAO63265;AAQ88784;AAS64373;AAS64374;AAS64375;AAS64376;AAS64377;AAS64378;AAS64379;AAS64380;AAS64381;AAS64382;AAS64383;AAS64384;ABM82239;ABM84277;ABM85423;ABM87669;BAG54616;CAD39191;EAW61340;EAW61341;EAW61342;EAW61343;EAW61344;EAW61345;EAW61346;EAW61347;NP_690875;NP_997010;NP_997011;Q6QHF9 Hs.532469 1336277;1722961;2156080;2167523;5015861;5020740;7185938 D10S1328E;D10S16;D10S1711;G06262;G60578;L17809 DKFZp434J245;MGC45464;PAO OTTHUMP00000020806;OTTHUMP00000020807;OTTHUMP00000180554;OTTHUMP00000233406;OTTHUMP00000233408;peroxisomal N(1)-acetyl-spermine/spermidine oxidase;peroxisomal N1-acetyl-spermine/spermidine oxidase;polyamine oxidase protein-coding ENSG00000148832 20837 10136 VALIDATED 7246702 PAPPA-AS1 PAPPA antisense RNA 1 6480464 15450385;15656990 493913 Q5QFB9 AL137024;AY623011;AY623012;NR_103711;XR_041635;XR_041636 AAV41519;AAV41520;Q5QFB9 Hs.728832 1698998;1774517;1778893;2146336;2187053;2187055 A006G27;G20791;RH103070;RH12228;RH36503;WI-18717 DIPAS;NCRNA00156;PAPPA-AS;PAPPAAS;PAPPAS;TAF2C2;TAF4B;TAFII105 miscrna 35152 610689 PREDICTED 1316507 PAPD7 PAP associated domain containing 7 The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010] 5 5 5 p15 6740937 6785032 + 6767718 6810161 + 6714718 6757161 + 6480464 18421076;18330920;15489334;12477932;10066793;19240061;11459963;10926539;18821564;19734545;23548203;21878619;19322201;22359512 11044 B4E0T3;B7ZLL4;D6RJD0;Q5XG87 AB005754;ABBA01016151;AC122710;AF089896;AI871781;AK289857;AK303516;AK308405;AMYH01014881;AY623114;BC084567;BC117137;BC126106;BC143882;CH471102;NM_001171805;NM_001171806;NM_006999;R49553 AAD45198;AAH84567;AAI17138;AAI26107;AAI43883;AAT38110;ADR83059;BAA24434;BAF82546;BAG64545;EAX08101;NP_001165276;NP_001165277;NP_008930;Q5XG87 Hs.481542 2130336;2136981;2155764;2163558;2167209;2172919;2174426;2217796 Cda0id11;D5S2465;L31436;POLS_3540;RH44956;STS-AA017033;STS-T87300;WI-22019 LAK-1;LAK1;POLK;POLS;TRF4;TRF4-1;TRF41;TUTASE5 DNA polymerase kappa;DNA polymerase sigma;OTTHUMP00000115520;PAP-associated domain-containing protein 7;TUTase 5;polymerase (DNA directed) sigma;polymerase (DNA-directed) sigma;terminal uridylyltransferase 5;topoisomerase-related function protein 4-1 APPROVED protein-coding ENSG00000112941 16705 09239 605198 REVIEWED 1322495 PAPLN papilin, proteoglycan-like sulfated glycoprotein 14 14 14 q24.2 53767437 53804568 + 72773958 72811101 + 73704205 73741348 + 1580863;6480464 16344560;14702039;12975309;12477932;11076767;19724244;19734141;20379614 89932 B3KXI1;B5MDP7;G3V5P6;H0YJA1;H0YMM2;Q8IVU0 ABBA01030764;AC004846;AF109907;AK021713;AK125658;AK127354;AK131073;AK293773;AK294560;AL110280;AMYH01005843;AY358330;BC042057;BC136623;BC144315;BX470414;BX537757;CH471061;DA121177;DB088927;NM_173462 AAC97963;AAH42057;AAI36624;AAQ88696;BAC85123;BAC86235;BAG54493;BAG57189;BAG57757;CAD97826;CAH56406;EAW81098;EAW81099;NP_775733;O95428 Hs.509909 1644932;1754553;1774361;1775630;2127138;2137547;2155619;2155783;2169917;5015879;5020414;5022322;5022588;5037552 D11S2560;D5S1597E;D8S2279;G38137;G38155;G38168;G38194;G38214;G38230;G38320;GDB:314949;L17688;SHGC-132836;SHGC-53164 DKFZp434F053;MGC50452 OTTHUMP00000245920;OTTHUMP00000245921;OTTHUMP00000245922;OTTHUMP00000245923;OTTHUMP00000245924;papilin protein-coding ENSG00000100767 19262 15099 VALIDATED 1312133 PAPPA2 pappalysin 2 This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 1 1 q23-q25 174698930 175078595 + 176432307 176811972 + 1580863;6480464 11264294;18818296;18805800;18374411;16710414;15231748;12477932;12466191;11597188;11018262;9883900;19474058;19834535;20103653;20304771;20379614;21496272;23509962;22037112;20881960 60676 Q59FU0;Q9BXP8 AB209369;ABBA01027860;ABBA01027861;ABBA01027862;ABBA01027863;AF311940;AF342989;AF342990;AJ278348;AL031290;AL031734;AL139282;AL596254;AMYH01001519;BC062665;BC104644;BC117193;BC117195;BC152552;CH471067;JA461825;NG_023390;NM_020318;NM_021936 AAI17194;AAI17196;AAI56075;AAI57040;AAK31073;AAL17779;AAL17780;BAD92606;CAC11134;CCD35052;EAW91003;EAW91004;NP_064714;NP_068755;Q9BXP8 Hs.187284 1337979;1340984;1644843;1654080;1658139;1668630;1669988;1670784;1696770;1698168;1708664;1709798;1709830;1709836;1725275;1751353;1770577;1774465;1777836;1854035;1854037;1854039;1854041;2108375;2128599;2134294;2152606;2161915;2163882;2167201;5120944;7187086 A005P32;A005V17;A008K20;AFMa082xe9;AL009861;D1S2605;D1S2659;D1S2769;G20401;G20532;PLAC3_8080;RH102619;RH118921;RH12244;RH12616;RH69675;RH78138;SHGC-105204;SHGC-34079;SHGC-37668;SHGC-75955;SHGC-75961;SHGC-75963;SHGC-75964;SHGC-75965;SHGC-77961;SHGC-81473;SHGC-84715;SHGC-84735;SHGC-84740;WI-11981 PAPP-A2;PAPP-E;PAPPE;PLAC3 OTTHUMP00000032951;OTTHUMP00000032980;PAPP-E;pappalysin-2;placenta-specific 3;pregnancy-associated plasma preproprotein-A2;pregnancy-associated plasma protein A2;pregnancy-associated plasma protein E1;pregnancy-associated plasma protein-E APPROVED protein-coding ENSG00000116183 14615 10156 REVIEWED 1322134 PAPOLB poly(A) polymerase beta (testis specific) 7 7 7 p22.1 4856457 4860713 - 4863895 4868151 - 4897369 4901625 - 1580863;6480464;6907045 15489334;12477932;11459229;11150526;8491200;21906983 56903 A4D1Z6;Q9NRJ5 ABBA01039432;AC092610;AF218840;AK312788;AMYH01016990;BC036653;CH236953;HC007204;HC044681;NM_020144 AAF81013;AAH36653;AAS07561;ABM82152;ABM85337;CBH19407;CBH30670;EAL23967;NP_064529;Q9NRJ5 Hs.487409 2106567 PAPOLB_3611 PAPT;TPAP OTTHUMP00000200478;PAP-beta;poly(A) polymerase beta;polynucleotide adenylyltransferase beta;testis-specific poly(A) polymerase protein-coding ENSG00000218823 15970 08467 607436 VALIDATED 1318583 PAPOLA poly(A) polymerase alpha The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 q32.31 96038473 96103201 + 96968713 97033453 + 1580863;6480464;6907045 12226669;8302877;18029348;15489334;15302935;15231748;15169763;14749727;14743216;14702039;14517258;12477932;11878934;10742179;10429366;9356495;8491200;17172643;20174964;22863883;22939629;16344560;7590244;19322201;21139048;21890473;21906983 10914 G3V2A0;G3V3I9;G3V457;G3XAH6;H0YJ00;H0YJL4;H0YJZ9;P51003 AA236200;ABBA01048588;ABBA01048589;ABBA01048590;AF002990;AK024849;AK097832;AK295020;AK302406;AK302984;AK303402;AK307659;AK307680;AK316168;AL163051;AMYH01005978;BC000927;BC015150;BC036014;BX089817;BX161482;BX248301;BX248753;CH471061;DB045100;NG_030439;NM_001252006;NM_001252007;NM_032632;X76770 AAH00927;AAH36014;BAG58079;BAG63716;BAG64124;BAG64456;BAH14539;CAD61935;CAD62628;CAD66560;EAW81642;EAW81643;EAW81644;EAW81645;EAW81646;EAW81647;EAW81648;EAW81649;NP_001238935;NP_001238936;NP_116021;P51003 Hs.253726 1671880;1672026;1679287;1699594;1736470;1754335;1850410;2114594;2119693;2158844;2164479;5016781;5022200;5022578 A006O03;D14S720E;D1S1423;G35681;G35762;L18426;RH103398;RH68050;RH68570;SHGC-132361;SHGC-23980;SHGC-67307;WI-13790;WI-15985 MGC5378;PAP OTTHUMP00000246021;OTTHUMP00000246068;OTTHUMP00000246069;PAP-alpha;poly(A) polymerase alpha;polynucleotide adenylyltransferase alpha APPROVED protein-coding ENSG00000090060 14981 10407 605553 REVIEWED 1321183 PAPOLG poly(A) polymerase gamma This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 60826967 60872820 + 60836887 60879602 + 60983365 61029221 + 1580863;6480464;6907045 15489334;15302935;14702039;12477932;11463842;11431479;11287430;8491200;16344560;20513922;20211142;22939629;22412388 64895 F8WAT4;H7C3W0;Q59G05;Q9BWT3 AB209304;ABBA01075337;AC011245;AC012498;AF312211;AI419423;AJ308101;AK021867;AK023034;AK023544;AK024249;AK314663;AMYH01010379;AW515951;AY029162;BC016738;BC028593;BC068493;BC110906;BC111701;BC113747;BX647824;CH471053;DB082179;NM_022894 AAH16738;AAI10907;AAI11702;AAI13748;AAK31791;AAK83701;AAY14677;AAY14832;BAB13919;BAB14368;BAB14604;BAB14858;BAD92541;BAG37221;CAC59751;EAX00029;EAX00030;EAX00031;EAX00032;EAX00033;EAX00034;NP_075045;Q9BWT3 Hs.387471 1728661;1790675;2119094;2120464;5016478;5022578;5022641;5109281 BARC0040;D11S2843;D1S1423;D1S1425;G63622;GDB:434012;RH45088;RH70022 FLJ11805;FLJ12972;FLJ13482;FLJ14187;MGC133307;MGC133308 OTTHUMP00000159787;PAP-gamma;SRP RNA 3' adenylating enzyme/pap2;SRP RNA 3'-adenylating enzyme;neo-PAP;neo-poly(A) polymerase;nuclear poly(A) polymerase gamma;poly(A) polymerase gamma;polynucleotide adenylyltransferase gamma APPROVED protein-coding 14982 11420 REVIEWED 1317112 PAPPA pregnancy-associated plasma protein A, pappalysin 1 This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008] 9 9 q33.2 117955892 118204421 + 118916071 119164600 + 1580863;1642328;1642330;1642331;1642324;1642325;1642326;1642327;1642329;2313776;2313777;6480464 15531533;12524241;12224070;17700210;17510462;16614002;16055491;14661010;17728480;9512318 18279673;15919757;21781597;10077652;10913121;19646567;19365167;19328196;19318028;19304869;19173346;19106261;19003798;18925584;18855223;18805800;18789800;18552658;18434323;18391950;18377765;18295168;21360961;18267116;18089325;17936662;17714879;17565927;17516846;17509577;17437322;17314100;17237617;17223728;17177834;17145752;16963045;16959807;16388849;16344560;16115888;16086443;15754336;15656990;15647258;15489334;15450385;15305104;15262980;15146551;14988014;14705967;14702039;14657012;14530192;12970325;12817760;12744930;12687209;12626203;12477932;12421832;12414897;12370176;12241545;12213189;12087395;11914564;11897673;11822024;11522292;11134163;10491647;8620868;7685339;7679961;7586586;7539791;7526035;7512304;7508748;6207082;6203109;6172371;6084247;2438405;2427179;2422961;1721035;20881960;22395770;22148978;20087924;20472761;20388505;18029348;20716560;15231748;19246276;19842139;19842999;19862778;20148724;20379614;9751498;20515576;20734665;20509148;20583170;16522924;20865665;19781342;21427871;21093861;22709655;21324404;21290395;21360554;21557695;21631965;21753069;21111564;21779191;22365285;21717483;21986593;22644835;23122949;22015022;22367671;22783577;19322201;22377654;23169786;22630333;22940118;22954283;23152806;22123284;23010598 5069 F5GZ19;Q13219;Q7Z613;Q86YM8;Q8IWT8 ABBA01042646;ABBA01042647;ABBA01042648;AF085834;AF085855;AJ420429;AJ420467;AK024330;AK092441;AK094182;AK129714;AK300128;AK300129;AK308154;AL137024;AL353141;AL691426;AMYH01021677;AMYH01021678;AU139179;AY140907;AY189937;AY302185;AY623010;AY623013;BC062657;BC078657;BG572566;BG622932;BG623020;BU158714;BX640901;CB960120;CB988079;CB989873;CH471090;HC007206;NM_002581;R75872;W04151;X68280 AAH78657;AAN25598;AAO25648;AAP68818;AAV41518;AAV41521;BAG61919;BAG61920;CAA48341;CBH19408;EAW87439;EAW87440;EAW87441;EAW87442;NP_002572;Q13219 Hs.643599 1336114;1644265;1649443;1654533;1655373;1660256;1674059;1693536;1698998;1700786;1721345;1722595;1754623;1767693;1768395;1768756;1774517;1778893;1847195;1850406;1857973;2114694;2124453;2135674;2135676;2138036;2139402;2146336;2150464;2153824;2154330;2156417;2165081;2183172;2187053;2187055;2191617;7185425 A005U45;A006G27;D6S2261;D9S1100;D9S170;D9S1971;D9S2044;D9S322;G20523;G20791;G30949;G59672;G60379;MARC_28473-28474:1042818764:1;RH103070;RH104018;RH12228;RH16442;RH36186;RH36503;RH65095;RH66018;RH68484;RH69976;RH70032;RH70083;RH77892;SHGC-132969;SHGC-33840;SHGC-58173;SHGC-58448;STS-H01310;STS-N27098;WI-11068;WI-17377;WI-17535;WI-18717 ASBABP2;DIPLA1;IGFBP-4ase;PAPA;PAPP-A;PAPPA1 IGF-dependent IGFBP-4 protease;OTTHUMP00000022806;aspecific BCL2 ARE-binding protein 2;differentially placenta 1 expressed protein;insulin-like growth factor-dependent IGF binding protein-4 protease;insulin-like growth factor-dependent IGF-binding protein 4 protease;pappalysin-1;pregnacy-associated plasma protein A APPROVED protein-coding ENSG00000182752 8602 01448 176385 REVIEWED 1317646 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008] 4 4 q24 108754271 108860868 - 108534822 108641419 - 1580863;6480464;6907045 16169070;9771708;19337310;19008949;17540769;16344560;15755455;15489334;15065880;14747722;12716056;12477932;11931637;10679223;10657990;9915785;9671738;9668121;9648242;9576487;20335228;20332099;22863883;22380844;22242175;20360068;21139048;21890473;21906983;22505724 9061 O43252;Q6IAX6 ABBA01063753;ABBA01063754;AC004045;AC098586;AC106861;AF016496;AF033026;AF097710;AF097711;AF097712;AF097713;AF097714;AF097715;AF097716;AF097717;AF097718;AF097719;AF097720;AF097721;AF105227;AK292774;AK297981;AMYH01014451;AU132232;BC011392;BC032513;BC040940;BC050627;BQ437924;BU517185;CH471057;CR457028;NM_005443;U53447;Y10387 AAC28429;AAC39894;AAD09325;AAF40235;AAF40236;AAH11392;AAH32513;AAH50627;AAY40925;AAY41043;ABM81969;ABM85148;BAF85463;BAH12699;CAA71413;CAG33309;EAX06210;NP_005434;O43252 Hs.368610 1643931;1651267;1658125;1704816;1721171;2134545;2136732;2156431;2185349;5019869 D4S3101;G54601;G59422;SGC44586;SHGC-10924;SHGC-18786;SHGC-52884;SHGC-58007;SHGC-67932;SHGC-79878 ATPSK1;PAPSS;SK1 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1;OTTHUMP00000161864;PAPS synthase 1;PAPSS 1;SK 1;bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1;sulfurylase kinase 1 APPROVED protein-coding ENSG00000138801 8603 09132 603262 VALIDATED 1321322 PAQR3 progestin and adipoQ receptor family member III 4 4 4 q21.21 77134736 77156218 - 80058118 80079606 - 79839094 79860582 - 737633;6480464 12477932 18547165;18515281;17724343;16344560;16044242;15489334;14702039;17207965;19519172;19884349;22828136;21906983 152559 D6RDU4;F8W784;Q6TCH7 ABBA01063389;AC093841;AK055774;AK126273;AK291232;AL080110;AMYH01014331;AX775925;AY424281;BC029604;BC031256;BC047510;BX648346;CH471057;CQ859770;DA410845;NM_001040202 AAH31256;AAH47510;AAR08369;ADQ31950;BAF83921;BAG51571;BAG54300;CAE11662;CAH25935;EAX05836;EAX05837;EAX05838;EAX05839;NP_001035292;Q6TCH7 Hs.657312 1670670;2120849 SHGC-24780;SHGC-67756 RKTG OTTHUMP00000219587;OTTHUMP00000219588;OTTHUMP00000219591;Raf kinase trapping to Golgi;progestin and adipoQ receptor family member 3 protein-coding ENSG00000163291 30130 17819 614577 VALIDATED 1319922 PAQR4 progestin and adipoQ receptor family member IV 16 16 16 p13.3 3224788 3228931 + 2959343 2963486 + 3019342 3023485 + 737633;6480464 12477932 16344560;16044242;15489334;14702039;20694148 124222 I3L1A2;I3L265;Q8N4S7 ABBA01026723;AC004235;AF086057;AK054564;AK092173;AK291373;AK295348;AL832527;AMYH01007086;AMYH01007087;AY424282;BC033703;CH471112;DA268775;DB505162;HD061936;NM_152341 AAH33703;AAR08370;ACE86661;ACE87344;BAB70758;BAC03821;BAF84062;BAG58316;CBS99530;EAW85441;EAW85442;EAW85443;EAW85444;NP_689554;Q8N4S7 Hs.351474 FLJ30002 OTTHUMP00000159228;progestin and adipoQ receptor family member 4 protein-coding ENSG00000162073 26386 08697 614578 VALIDATED 1606550 PAQR5 progestin and adipoQ receptor family member V 15 15 15 q23 46480046 46588765 + 67378348 67487030 + 69591294 69699976 + 6480464 18603275;16044242;12601167;12574519;12477932;20889312;21761364 54852 H0YL06;Q9NXK6 ABBA01038768;ABBA01038769;AC026992;AC027237;AK000197;AMYH01006741;AMYH01006742;AW779994;AY424283;BC039234;BE747523;CH471082;HD061938;NM_001104554;NM_017705 AAH39234;AAR08371;ABM86765;ABW03821;BAA91004;CBS99532;EAW77838;EAW77839;NP_001098024;NP_060175;Q9NXK6 Hs.591096 1697300;1722267;1732573;2165373;5016596;5022383;5022578 D15S525;D1S1423;ECD04345;G60044;GDB:631802;RH102147;RH46326 FLJ20190;MPRG OTTHUMP00000164447;mPR gamma;membrane progestin receptor gamma;progestin and adipoQ receptor family member 5 protein-coding ENSG00000137819 29645 08475 607781 VALIDATED 7205337 PARD3-AS1 PARD3 antisense RNA 1 10 35104695 35105350 + 100505601 ABBA01033353;AL450337;AMYH01002232;XR_109024;XR_111054;XR_171849 Hs.549790 miscrna ENSG00000226386 44964 MODEL 1315952 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 10 10 q24 89409456 89497442 + 89419476 89507462 + 1580863;6480464;6907045;7240710 17353931;9771708;15489334;12477932;11931653;11931637;11773860;11558903;11159808;10679223;10657990;10559207;9714015;9671738;16385451;19727025;20379614;22863883;22791835;22242175;21963094;22394585;23000965;18781797;20360068;21139048;21890473;21906983;21832049 9060 E7ER89;O95340;Q5TB52 ABBA01021962;ABBA01021963;ABBA01021964;AF074331;AF091242;AF150754;AF160503;AF160504;AF160505;AF160506;AF160507;AF160508;AF160509;AF173365;AF313907;AK301453;AK309262;AK312556;AL133327;AL138767;AMYH01002932;BC009894;BQ221395;BQ772647;BQ888954;CB960618;CH471066;NG_012150;NM_001015880;NM_004670 AAC64583;AAD38423;AAF12761;AAF20366;AAF40307;AAH09894;AAK00296;ABM84551;ABM86356;BAG35453;BAG62977;EAW50181;EAW50182;EAW50183;NP_001015880;NP_004661;O95340 Hs.524491 1336487;1337807;1649390;1666208;1709842;1756097;2139122;2139124;2181708;7185400 A006H32;D10S215;D10S579;G20816;RH15684;SHGC-142887;SHGC-84743;STS-W46759;WI-18019 ATPSK2;BCYM4;SK2 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2;ATP sulfurylase/APS kinase 2;ATP sulfurylase/adenosine 5'-phosphosulfate kinase;OTTHUMP00000020028;PAPS synthase 2;PAPS synthetase 2;PAPSS 2;SK 2;bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2;bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2 APPROVED protein-coding ENSG00000198682 8604 04303 603005;612847 REVIEWED 1606437 PAQR7 progestin and adipoQ receptor family member VII 1 1 1 p36.11 24584058 24593828 - 26060562 26070331 - 26187975 26197744 - 6480464 19071147;18603275;17082257;16044242;15489334;12606724;12601167;12574519;12477932;17207965;21761364;21890473;21906983;19322201;22505724 164091 Q86WK9 AA778580;ABBA01034887;AF313620;AL033528;AMYH01000394;AY424285;BC034015;BC042298;BC127800;CA434186;CH471059;NM_178422 AAH34015;AAI27801;AAO47233;AAR08373;ADQ31948;EAX07862;NP_848509;Q86WK9 Hs.523652 5015961;5020948;5037552;5109281 D15S1477;D1S1425;D8S2279;G35510 MPRA;PGLP;mSR 2310021M12Rik;OTTHUMP00000008505;mPR alpha;membrane progestin receptor alpha;progestin and adipoQ receptor family member 7 protein-coding ENSG00000182749 23146 09692 607779 VALIDATED 1323634 PAQR6 progestin and adipoQ receptor family member VI 1 1 1 q22 129286189 129290825 - 154479831 154484467 - 156213207 156217843 - 6480464 20139978;16044242;15489334;14702039;12477932;18603275;15342556;17213182;7566098;23161870 79957 B4DJ42;B7Z9R9;K9J969;Q5TCK5;Q5TCK7;Q7Z4Q8;Q8N3M2 AA310453;ABBA01016665;AF455045;AF455046;AF455047;AK026325;AK054682;AK094346;AK095143;AK095197;AK294143;AK295915;AK295916;AK307441;AK316034;AL135927;AL834227;AMYH01001436;AY424284;BC058509;BC071623;BI551776;BI819919;BP208594;BP217276;BP362806;CH471121;DT218672;FJ200492;HD061940;NM_001272104;NM_001272105;NM_001272106;NM_001272107;NM_001272108;NM_001272109;NM_001272110;NM_001272111;NM_001272112;NM_001272113;NM_024897;NM_198406;NR_073610 AAH58509;AAH71623;AAP97701;AAP97702;AAP97703;AAR08372;ACO54889;BAB15446;BAC04493;BAC04497;BAG57469;BAG58703;BAG58704;BAH14405;CAD38905;CBS99534;EAW52975;EAW52976;EAW52977;EAW52978;EAW52979;EAW52980;EAW52981;EAW52982;EAW52983;EAW52984;NP_001259033;NP_001259034;NP_001259035;NP_001259036;NP_001259037;NP_001259038;NP_001259039;NP_001259040;NP_001259041;NP_001259042;NP_079173;NP_940798;Q6TCH4 Hs.235873 1690252;1857036;2113674;2120254;2127136;2190939;2219452 A003B36;AB055289;MARC_11831-11832:1029348479:1;PAQR6__5825;RH12024;RH27735;STS-X04143 FLJ22672 OTTHUMP00000018881;OTTHUMP00000018882;OTTHUMP00000018884;OTTHUMP00000018885;progestin and adipoQ receptor family member 6;progestin and adipoQ receptor family member VI variant 5 protein-coding ENSG00000160781 30132 17820 614579 VALIDATED 1323309 PAQR8 progestin and adipoQ receptor family member VIII 6 6 6 p12.1 53888043 53933700 + 52334904 52380452 + 52226926 52272575 + 6480464 16044242;15489334;15146197;14702039;14574404;12606724;12601167;12574519;12477932;12107412;11676489;18603275;17207965;21761364 85315 B3KXW6;D6RCM7;Q8TEZ7 ABBA01050555;ABBA01050556;ABBA01050557;AF313619;AF347029;AI655504;AI656485;AJ420470;AK057083;AK093603;AK128085;AK315088;AL136125;AL138722;AMYH01016350;AMYH01016351;AY424286;BC030664;CD672455;CH471081;CN283490;CN395844;HD061944;NM_133367 AAH30664;AAL79777;AAO47232;AAR08374;ADQ32286;BAG37553;BAG54628;CBS99536;EAX04368;EAX04369;NP_588608;Q8TEZ7 Hs.239388 1772661;1785900;2114230;2114232;2126283;2128516 A001Z23;G19819;SHGC-141786;STS-Z41287;WI-20795;WIAF-2212 C6orf33;FLJ32521;FLJ46206;LMPB1;MPRB OTTHUMP00000016604;OTTHUMP00000217782;OTTHUMP00000217783;chromosome 6 open reading frame 33;lysosomal membrane protein in brain 1;lysosomal membrane protein in brain-1;mPR beta;membrane progestin receptor beta;progestin and adipoQ receptor family member 8 protein-coding ENSG00000170915 15708 07415 607780 VALIDATED 1323015 PAQR9 progestin and adipoQ receptor family member IX 3 3 3 q23 141103546 141105651 - 144162763 144164868 - 142680073 142682178 - 6480464 15489334;18603275;16044242;14702039;12477932;22359512;23161870 344838 H7C4R3;H7C5S8;Q6ZVX9 ABBA01059019;AC021074;AK093381;AK123932;AMYH01013548;AY424287;BC030124;BC118666;BC122527;CH471052;HD061946;NM_198504 AAI18667;AAI22528;AAR08375;BAC85729;CBS99538;EAW78959;NP_940906;Q6ZVX9 Hs.408385;Hs.656111 1646112;2114154;2219454;5492857 PAQR9__5826;RH70276;SHGC-36471;UniSTS:483032 FLJ41938 OTTHUMP00000214801;progestin and adipoQ receptor family member 9 protein-coding ENSG00000188582 30131 17821 614580 VALIDATED 1312545 PARD3B par-3 partitioning defective 3 homolog B (C. elegans) 2 2 2 q33.3 199165594 200238308 + 205118761 206188782 + 205410516 206484886 + 1580863;6480464 22843504;18471798;16458856;15721295;15324660;14702039;12477932;12459187;12234671;11586298;12650946;15778465;20670164;20677014;20694014;20379614;21502085 117583 E9PE87;Q8TEW8;R4GN62 AB053321;AB073472;AB092439;ABBA01062624;ABBA01062625;ABBA01062626;ABBA01062627;ABBA01062628;ABBA01062629;ABBA01062630;ABBA01062631;ABBA01062632;ABBA01062633;ABBA01062634;ABBA01062635;ABBA01062636;ABBA01062637;ABBA01062638;ABBA01062639;AC007385;AC007465;AC007736;AC007746;AC008168;AC008171;AC009316;AC011750;AC016903;AC108468;AF428250;AF428251;AF466152;AI742400;AK056157;AK057965;AK312083;AL832951;AMYH01011422;AMYH01011423;AMYH01011424;AMYH01011425;AMYH01011426;AMYH01011427;AMYH01011428;AMYH01011429;AMYH01011430;AW274720;BC012984;CH471063;NM_057177;NM_152526;NM_205863 AAI56253;AAI72499;AAL30664;AAL30665;AAL79827;AAX76515;AAX88974;AAX93083;AAY14757;AAY15023;AAY24228;AAY24245;AAY24325;BAB69028;BAB71106;BAB71623;BAC54035;BAC54285;BAG35019;EAW70358;EAW70359;EAW70360;NP_476518;NP_689739;NP_995585;Q8TEW8 Hs.657382 1335896;1645612;1654408;1661018;1661120;1665382;1665384;1666906;1677390;1695460;1698114;1708776;1715781;1721305;1721505;1728751;1728753;1728807;1728837;1728839;1728855;1758905;1769751;1771755;1773902;1776237;1846662;1847643;1851315;2117647;2118695;2124256;2125896;2134627;2135136;2147034;2155711;2181334;5092838 A006B04;A006J11;AFM224zg5;D2S2058;D2S2121;D2S2237;D2S248;G09542;G09792;G16441;G20667;G32361;G54512;G54514;G54515;G54516;G54517;G54518;G59606;G59650;RH102589;RH119339;RH16290;RH36347;RH36494;RH45224;RH45481;RH46159;RH80884;SHGC-13685;SHGC-150745;SHGC-34931;SHGC-68581;SHGC-81635;SHGC-9251;STS-AA009579;WI-11579;WI-17965;WI-9869 ALS2CR19;FLJ92364;MGC16131;PAR3B;PAR3L;PAR3LC;PAR3beta;Par3Lb OTTHUMP00000206092;OTTHUMP00000206093;OTTHUMP00000206094;OTTHUMP00000206095;PAR3-L protein;PAR3-beta;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein;partitioning defective 3 homolog B;partitioning defective 3-like protein;partitioning-defective 3-beta;partitioning-defective 3-like protein-coding ENSG00000116117 14446 09795 VALIDATED 7206875 PARGP1 poly (ADP-ribose) glycohydrolase pseudogene 1 10 51642387 51707663 + 100506785 AL450342;AL672187;AMYH01002642;AMYH01002643;AMYH01002644;NG_032736 1689109;1766243;1780476 RH68500;SHGC-149602;stbA746L15SP6 pseudo 45008 INFERRED 1347705 PARK10 Parkinson disease 10 7240710 12402251 170534 1336013 D1S2652 17833 1347455 PARK11 Parkinson disease (autosomal recessive, early onset) 11 7240710 12638082 352908 17963 607688 1345737 PARD6A par-6 partitioning defective 6 homolog alpha (C. elegans) This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 16 16 q22.1 66252352 66254182 + 67694851 67696681 + 1580863;5132275;6480464;6484113;6907045 16525119 22339630;9482110;18562307;17976838;17586613;17420281;17335965;17057644;17050699;15831491;15782111;15761153;15761148;15744531;15590654;15489334;15345747;15254234;14976222;14718572;14676191;12545177;12477932;12459187;11260256;11257119;10954424;10934474;10873802;16189514;12606577;12629547;12813044;17350623;18922891;19379695;19617897;19667198;20719959;21170030;20360068;21262463;16678097;17101696;23341197;23439680;22883624;23249950;23469015;23251661 50855 Q9NPB6;R4GMM2 AB041642;AB043634;ABBA01025451;AC010530;AF028827;AF252292;AF265565;AJ277095;AMYH01007751;BC015626;CH471092;NM_001037281;NM_016948 AAB84252;AAF71529;AAF75548;AAH15626;ABM84403;ABM87346;BAA96235;BAB16105;CAB85490;EAW83151;NP_001032358;NP_058644;Q9NPB6 Hs.112933 2109625 PARD6A_9653 PAR-6A;PAR6;PAR6C;PAR6alpha;TAX40;TIP-40 OTTHUMP00000174836;PAR-6 alpha;Tax-interacting protein 40;par-6 partitioning defective 6 homolog alpha (c.elegans);partitioning defective 6 homolog alpha;partitioning defective-6 homolog alpha;partitioning-defective protein 6;tax interaction protein 40 APPROVED protein-coding ENSG00000102981 15943 06316 607484 REVIEWED 1346150 PARK3 Parkinson disease (autosomal dominant, Lewy body) 3 7240710 9500549 5072 1298185;1357238;7183245 D2S134;D2S286;D2S441 8608 1349392 PARK4 Parkinson disease (autosomal dominant, Lewy body) 4 7240710 9887334;10867800 60454 13794 127750;168601;605543 1354265 PARK6 Parkinson disease (autosomal recessive) 6 7240710 11254447 113879 13873 605909 6767143 PARD6G-AS1 PARD6G antisense RNA 1 18 q23 77905807 77936315 + 6480464 14702039;16344560;20379614;8889548 100130522 ABBA01013904;ABBA01013905;AC139100;AK056304;AMYH01009137;BM665099;DA492465;DB097435;DR003590;NR_028339;NR_028340 Hs.621912 1739239;1766289;2117450;2128396;2167453 A004B28;D17S1639;RH11667;RH78187;SHGC-149643 APPROVED miscrna ENSG00000267270 44109 VALIDATED 1345890 PARK8 Parkinson disease (autosomal dominant) 8 7240710 16368 607060 1350813 PARK9 Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome) 7240710 11584046 140600 17832 606693 731593 PARD3 par-3 partitioning defective 3 homolog (C. elegans) This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 p11.21 34440103 35143929 - 34398488 35104253 - 1580863;5132275;6480464;6907045 16525119 18636124;18562307;18319301;17989107;17609107;17287830;17081983;17057644;17053785;16678097;16505165;15951569;15782111;15723052;15489334;15324660;15302935;15144186;14760703;14702039;12650946;12515806;12477932;12459187;12234671;11642408;11447115;11257119;11149944;10954424;12953056;15254234;17353931;15778465;11260256;10934474;14676191;19240061;18984674;18685789;19913121;20628086;15723051;16341674;16385451;16458856;17235357;19503097;19592499;19684603;19737411;19812038;20095854;20096742;20379614;8889549;20709820;20191563;20933426;21515326;20959641;21170030;21621269;23153534;21682944;17979178;21139048;21109632;21865402;17906294;22883624;23263278;18838552;23000965;17101696;22398721;22447895 56288 B1AP52;F5GZI3;Q5VWU8;Q5VWV2;Q96RM6 AA136967;AB073671;ABBA01033354;ABBA01033355;ABBA01033356;ABBA01033357;ABBA01033358;ABBA01033359;ABBA01033360;ABBA01033361;ABBA01033362;ABBA01033363;AF177228;AF196185;AF196186;AF252293;AF332592;AF332593;AF454057;AF454058;AF454059;AF467002;AF467003;AF467004;AF467005;AF467006;AK000761;AK024668;AK025892;AK027735;AK172827;AL138768;AL160409;AL360233;AL390766;AL392123;AL450337;AL590039;AL603963;AMYH01002228;AMYH01002229;AMYH01002230;AMYH01002231;AW242451;BC011711;BC071566;BE464617;BM796605;CH471072;NM_001184785;NM_001184786;NM_001184787;NM_001184788;NM_001184789;NM_001184790;NM_001184791;NM_001184792;NM_001184793;NM_001184794;NM_019619 AAF71530;AAG33676;AAH11711;AAH71566;AAK27891;AAK27892;AAK69192;AAK69193;AAL76042;AAL76043;AAL76044;AAL76045;AAL76046;AAN75697;AAN75698;AAN75699;BAA91366;BAB55330;BAC54037;EAW85932;EAW85933;EAW85934;NP_001171714;NP_001171715;NP_001171716;NP_001171717;NP_001171718;NP_001171719;NP_001171720;NP_001171721;NP_001171722;NP_001171723;NP_062565;Q8TEW0 Hs.131489 1663924;1678725;1683767;1696202;1696408;1712819;1713835;1717039;1723435;1723957;1731006;1731018;1736126;1739125;1747853;1750167;1760693;1772320;1775307;1782130;2127464;2138639;2149992 A008R21;D10S1391E;D10S1521;D10S355;D10S371;G66764;RH118535;RH119633;RH120125;RH120806;RH124082;RH44685;RH45947;RH48447;RH92874;SGC38268;SHGC-112261;SHGC-144230;SHGC-155299;SHGC-56725;SHGC-57645;SHGC-79047;SHGC-83328 ASIP;Baz;Bazooka;FLJ21015;PAR3;PAR3alpha;PARD-3;PARD3A;SE2-5L16;SE2-5LT1;SE2-5T2 CTCL tumor antigen se2-5;OTTHUMP00000019427;OTTHUMP00000019428;OTTHUMP00000019429;OTTHUMP00000019430;OTTHUMP00000019431;OTTHUMP00000019432;OTTHUMP00000019434;OTTHUMP00000019435;PAR3-alpha;PARD-3;atypical PKC isotype-specific interacting protein;atypical PKC isotype-specific-interacting protein;bazooka;partitioning defective 3 homolog;three-pdz containing protein similar to c. elegans par3 (partitioning defect) APPROVED protein-coding ENSG00000148498 16051 05994 606745 VALIDATED 1317848 PARD6B par-6 partitioning defective 6 homolog beta (C. elegans) This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008] 20 20 20 q13.13 46052360 46074607 + 48781488 48803685 + 49348081 49370278 + 1580863;5132275;6480464;6907045 16525119 14676191;12545177;19401335;15677324;15489334;12725730;12477932;12459187;12234671;11780052;11260256;10934474;11162552;21300793;15101818;18029348;20631255;17207965;20936779;21832049;20360068;21139048;21771265;12887891 84612 A2A2A7;Q9BYG5 AB044555;AB178534;ABBA01052785;AL031680;AMYH01011975;BC060847;CA435324;CH471077;NM_032521 AAH60847;ADQ33003;BAB40756;BAF92013;EAW75615;EAW75616;EAW75617;NP_115910;Q9BYG5 Hs.589848 1671026;1693288;2146989;2218796;5014051;5015404;5015619;5016478;5022200;5024413;5037552 D11S3114;D8S2278;D8S2279;G42347;GDB:434012;L17705;L17877;L18426;PARD6B_3691;RH65940;SHGC-37653 PAR6B OTTHUMP00000031269;PAR-6 beta;partitioning defective 6 homolog beta APPROVED protein-coding ENSG00000124171 16245 18703 608975 REVIEWED 1312794 PARD6G par-6 partitioning defective 6 homolog gamma (C. elegans) 18 18 18 q23 74687746 74733595 - 76016106 76106388 - 77915115 78005397 - 1580863;5132275;6480464;6907045 16525119 11260256;15489334;14702039;12477932;12459187;11257119;10934474;14676191;20379614 84552 K7ELH1;Q9BYG4 AA502508;AB043635;AB044556;AB178535;AB178536;ABBA01013904;ABBA01013905;AC139100;AK128802;AMYH01009137;AMYH01009138;BC060797;CH471117;NM_032510 AAH60797;BAA96236;BAB40757;BAF92014;BAF92015;EAW66649;NP_115899;Q9BYG4 Hs.654920 1672084;1678765;1757357;1765827;1766289;2128396;2156646;2167453;5037552 A004B28;D18S1063;D8S2279;RH11667;RH26096;SHGC-144757;SHGC-149251;SHGC-149643;WI-14684 FLJ45701;PAR-6G;PAR6gamma OTTHUMP00000163844;PAR-6 gamma protein;PAR6D;partitioning defective 6 homolog gamma protein-coding ENSG00000178184 16076 10138 608976 VALIDATED 1351666 PARG poly (ADP-ribose) glycohydrolase Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. [provided by RefSeq, Jul 2008] 10 10 q11.23 51293430 51377668 + 51026325 51371331 - 2316738;2316742;6480464 18057239;12834903 15450800;9925755;19454480;18636124;18407589;17548475;17509564;16963444;16526943;16117724;15868399;15489334;15302935;15212953;15081900;14622405;14527731;12878198;12477932;11053413;10449915;9115250;8428996;19076642;19389396;19571039;19812418;18029348;23102699;22333589;21890473;21628590;22433848;22508044;22918473;22053931;22839996 8505 H0Y834;Q7Z742 ABBA01006259;ABBA01006260;ABBA01006261;ABBA01041065;ABBA01041066;AC069546;AF005043;AF085828;AK295244;AK295786;AK301845;AK302560;AL450342;AL672187;AL731572;AMYH01002642;AMYH01002643;AMYH01002644;AMYH01002645;AMYH01002646;AMYH01002647;AMYH01002648;AMYH01002649;AMYH01002650;AMYH01002651;AMYH01002652;AMYH01002653;AMYH01002654;AMYH01002655;AMYH01002656;AMYH01002657;AMYH01002658;AMYH01002659;AMYH01002660;AMYH01002661;AMYH01002662;AMYH01002663;AMYH01002664;AMYH01002665;AMYH01002666;AMYH01002667;AMYH01002668;AMYH01002669;AMYH01002670;AMYH01002671;AMYH01002672;AMYH01002673;AMYH01002674;AMYH01002675;AMYH01002676;AMYH01002677;AY258587;AY258588;AY575848;AY575849;BC012005;BC050560;BC052966;CH471187;DQ867088;EF382674;JQ890226;NM_003631 AAB61614;AAH50560;AAH52966;AAP83314;AAP83316;AAT66421;AAT66422;ABH85399;ABR10027;AFM56043;BAG58236;BAG58607;BAG63288;BAG63826;EAW93079;NP_003622;Q86W56 Hs.535298;Hs.732225 1689109;1766243;1780476;2109627;2167155 PARG_8819;RH68500;RH69997;SHGC-149602;stbA746L15SP6 FLJ54459;FLJ60257;FLJ60456;PARG99 OTTHUMP00000019589;mitochondrial poly(ADP-ribose) glycohydrolase;poly(ADP-ribose) glycohydrolase;poly(ADP-ribose) glycohydrolase 60 kDa isoform APPROVED protein-coding 8605 04611 603501 REVIEWED 1314669 PARL presenilin associated, rhomboid-like This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 q27.1 185029867 185085387 - 183547173 183602693 - 6480464 19185381;18758826;17116872;17019603;15729572;15489334;14732705;12774122;12477932;12214059;21138942;18029348;19680265;19754948;19862556;20407791;20711738;16712791;20877624;21355049;21426348;21415861;22915595;21890473;21953724 55486 C9JNP8;F8WCQ4;H7C045;H7C0U0;H7C122;H7C1V6;Q9H300 ABBA01058468;ABBA01058469;ABBA01058470;ABBA01058471;AC068644;AC131160;AF197937;AK024765;AMYH01013709;BC003653;BC014058;CA417847;CB122278;CH471052;HB868308;HB889245;HC925717;HC946654;NM_001037639;NM_018622 AAG28519;AAH03653;AAH14058;ABM84368;ABM87748;CBF58133;CBF68759;CBU83568;CBU93633;EAW78311;EAW78312;NP_001032728;NP_061092;Q9H300 Hs.478469 1649299;1672326;1676962;1678955;1735176 D3S2822E;RH66907;RH79821;SHGC-33411;SHGC-77603 PRO2207;PSARL;PSARL1;PSENIP2;RHBDS1 OTTHUMP00000210934;OTTHUMP00000210935;OTTHUMP00000210937;OTTHUMP00000210938;mitochondrial intramembrane cleaving protease PARL;mitochondrial intramembrane-cleaving protease PARL;presenilins-associated rhomboid-like protein, mitochondrial;rhomboid 7 homolog 1 APPROVED protein-coding ENSG00000175193 18253 08484 607858 REVIEWED 1344212 PARK7 parkinson protein 7 The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.23 7944380 7967926 + 8021714 8045342 + 1601073;1601076;1580863;6480464;6907045;7240710 12851414;16860563 15983381;17510388;9070310;12446870;19429112;19425177;19405094;19371728;19229105;19224617;19144925;19124468;19064576;19023331;19014922;19006224;18974921;18973254;18922803;18841573;18817430;18785233;18722801;18722352;18707128;18706098;18704525;18689799;18647263;18632777;18626009;18586035;18570440;18556627;18486522;18436956;18430896;18382667;18181649;18162323;18045143;17949781;17882163;17846173;17671684;17599367;17504761;17487420;17451229;17120294;17085780;17034344;17017532;17015834;16781058;16731528;16710414;16707095;16632486;16570276;16517609;16403519;16331561;16316629;16240358;16227205;16157901;15976810;15970950;15944198;15935068;15790595;15766664;15717024;15703819;15592455;15542239;15503154;15502874;15489334;15372597;15365989;15342556;15308309;15304593;15254937;15219840;15181200;15108293;15018843;14985393;14872018;22024154;22515803;14607841;14598065;14579415;14557580;12953260;12939276;12914946;12855764;12815653;12796482;12761214;12612053;12548343;12526767;12477932;11477070;11462174;11223268;14718574;14713311;14712351;14705128;14705119;14702039;14662519;14652021;14638971;22666465;20673799;20940149;20506312;20510502;20014998;20497343;14625045;17540176;18029348;18822273;19384955;19615732;19680261;19686841;19692353;19703902;19716892;19733211;19822128;19825160;19968671;20061558;20146068;20150646;20156966;20190752;20395301;15525661;17207965;20877624;20127688;20213747;18331584;20730377;20842103;21055329;20406884;20186336;20540987;20634198;20639397;20938049;19335984;20736773;14752510;16390825;19885556;22523093;22939629;14749723;18711745;21297633;18000879;23015639;21410067;20806408;21160133;21322020;21368136;18717316;21097510;22492997;23593018;20543466;21445310;21575935;20300974;21556124;22960331;21943684;22173095;22223849;21852238;22066264;21796667;21819105;22272336;23151319;21893204;23182168;22404125;22508282;22511790;21785459;21890473;21139048;22132160;22157000;21317550;21535932;21645620;21670963;22233331;22532838;22554508;22571429;18439917;20301402;22428580;22321799;22445250;22956510;23000965;22985211;23128233;23250426;15894486;23402259;23455922;23530187;22892098;14665635;17331951;18042550;19293155;20304780;21426932;21645326;22526154;22664331;22836768;23076395;23149933;22968650;22555455 11315 K7ELW0;K7EN27;Q99497 AB073864;ABBA01035499;ABBA01035500;AF021819;AK091679;AK130886;AK312000;AL034417;AMYH01000225;AY648999;BC008188;BP248330;CH471130;D61380;NG_008271;NM_001123377;NM_007262 AAC12806;AAH08188;AAT68961;ADQ32403;BAA09603;BAB71782;BAG34938;EAW71591;NP_001116849;NP_009193;Q99497 Hs.419640 1670586 SHGC-74169 DJ-1;DJ1;FLJ27376;FLJ34360;FLJ92274 OTTHUMP00000001348;OTTHUMP00000001349;OTTHUMP00000001350;OTTHUMP00000001351;Parkinson disease (autosomal recessive, early onset) 7;Parkinson disease protein 7;oncogene DJ1;protein DJ-1 APPROVED protein-coding ENSG00000116288 16369 03961 602533;606324 REVIEWED 730938 PARK2 parkinson protein 2, E3 ubiquitin protein ligase (parkin) The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008] 6 6 q25.2-q27 161689661 163068793 - 161768590 163148834 - 1302872;737763;1300048;1580863;6480464;6907045;7240710 14556719;12629236 18554280;18519826;18519021;18514563;18486522;18464276;18413468;18387843;18378882;18362144;18335262;18331811;18248624;18248610;18211709;18195004;18188499;18068301;18022644;18004887;18003639;17989306;17976945;17935510;17934880;17873367;17766365;17724286;17722288;17687034;17680541;17512523;17467279;17465879;17415800;17400506;17353387;17335904;17329252;17324265;17314283;17285542;17280783;17267552;17187375;17068781;17017530;16955485;16914382;16905117;16840513;16837855;16826604;16819513;16793319;16769863;16734611;16643317;16637659;16636914;16606767;16517073;16511856;16502212;11590439;12364339;16352719;17097639;9560156;19491146;19475582;19473361;19405094;19358826;19339245;19330201;19279012;19229105;19228951;19224617;19205068;19167501;19162522;19146857;19087301;19067348;19050041;19043545;19036992;19029340;19006224;18987353;18973255;18973254;18957282;18951541;18942080;18936941;18927607;18845538;18785233;18759365;18704525;18561034;18560894;22082830;22080835;16500134;16476817;16455660;16449237;16391553;16367892;16344560;16339143;16332688;16287063;16269266;16244875;16227987;16227559;16215938;16189514;16157901;16130151;16086186;16049031;16019250;15987638;15970950;15963499;15896322;15894486;15862897;15823482;15781988;15737990;15728840;15718234;15717024;15642853;15606901;15584030;15557340;15492001;15489334;15455441;15453267;15326242;15315343;15300670;15266615;15261877;15252205;15229644;15198987;15192821;15132984;15108293;15105460;15102676;15101042;15090075;15078880;14991825;14987449;14976155;14737177;14727181;14678753;14639672;14614460;14574404;14559152;14532270;14519684;12975291;12973932;12972428;12972409;12925569;12891670;12815654;12784265;12783850;12781599;12764050;12730996;12719539;12716939;12707457;12692130;12691660;12673578;12670421;12634850;12628165;12584415;12548343;12548339;12477932;12397156;12374768;12362318;12270650;12165399;12150907;12138708;12116199;12114481;12112109;12044248;12034719;12000718;11971093;11889248;11839750;11679592;11588587;11527378;11487568;11468333;11439185;11431533;11405814;11402119;11278816;11248588;11241385;11215568;11179010;11163284;11078524;11009195;10973942;10965160;10939576;10888878;10824074;10791092;10511432;10319893;10214987;10072423;9802278;9731209;9634531;9570960;9042918;9014427;17883392;17682061;18541373;18671761;16169070;15603737;22308057;22555654;22773346;20558392;19863651;14645198;16096643;17327227;18644660;19038850;19060904;19351622;19377297;19483198;19526454;19585504;19610108;19615059;19617340;19617636;19628420;19636047;19663908;19672985;19679562;19692353;19715670;19716418;19723394;19726410;19734163;19741132;19801972;19822161;19875440;19880420;19909784;19946270;20031566;20034704;20043906;20098416;20146068;20153330;20171192;20182943;20188730;20379614;20399249;20404107;20424582;20483373;20686608;20547844;20800584;20854080;19913121;20571283;20628086;20629119;20450912;20506312;20573959;20876472;22287053;22354088;22431710;15525661;15944382;20889974;20630868;20696900;20810900;17207965;20842103;16135753;16714300;16862145;19297328;20508036;20823226;14962978;20301651;20604804;20885945;21173115;21177257;21292769;21348451;19631192;21215313;21322020;21532592;20871098;21205674;21568911;21635879;12676955;12928331;20798600;20890124;20889486;20940148;21147754;17846173;22910362;23010174;23052943;21408142;21296869;21615408;18784277;19240029;21663383;22008525;15456787;15632191;16672220;21376232;21640711;21113145;17553932;20089134;21584286;21753002;21360662;21187721;20089136;21466165;21865652;21221875;21816242;21900206;22081612;21131737;21930938;22078885;22233331;23392669;22939624;20643691;21209200;22200450;23256036;22927236;23608757;23670163;23707686;23727886;20652448;20969957;21500544;21535932;21625934;21856206;21915905;21993715;22011618;22028146;22057787;22095653;19013454;22302706;22314364;19651786;21590270;21694720;21996382;22009144;22271254;22488424;22511790;20301402;22377733;23503661;16720581;17599067;19285961;22350919;22361577;22445249;22517668;22792159;12963044;22388932;23060438;23068103;22956510;23258539;22993228;23125027;23313576;23382691;14579121;22396657;22724072;22954671;22777964;22813976;23459986;23350010;23531835;23345212;21534944;23212910;23319602;23393160;22766139 5071 B1AKC3;Q5VVX4;Q8WW07 AB009973;AB245403;ABBA01015120;ABBA01015121;ABBA01015122;ABBA01015123;ABBA01015124;ABBA01015125;ABBA01015126;ABBA01015127;ABBA01015128;ABBA01015129;ABBA01015130;ABBA01015131;ABBA01015132;ABBA01015133;ABBA01015134;ABBA01015135;ABBA01015136;ABBA01015137;ABBA01015138;ABBA01015139;ABBA01015140;ABBA01015141;ABBA01015142;ABBA01015143;ABBA01015144;ABBA01015145;ABBA01015146;AF381282;AF381283;AF381284;AF381286;AK292590;AK294684;AL008631;AL035697;AL078583;AL132982;AL138716;AL445215;AMYH01016821;AMYH01016822;AMYH01016823;AMYH01016824;AMYH01016825;AMYH01016826;AMYH01016827;AMYH01016828;AMYH01016829;AMYH01016830;AMYH01016831;AMYH01016832;AMYH01016833;AMYH01016834;AP000886;AP000887;AP000888;AP001576;AP001577;AP001578;AP002091;AP003699;AY463003;AY564223;AY564224;AY564225;AY745246;AY745247;BC022014;CH471051;DB023187;EF375726;GU345837;GU345838;GU345839;GU345840;GU357501;GU357502;GU361466;GU361467;GU361468;GU361469;GU361470;NG_008289;NM_004562;NM_013987;NM_013988 AAH22014;AAM21457;AAM21458;AAM21459;AAM21461;AAR27057;AAS88420;AAS88421;AAS88422;AAU93631;AAU93632;ABN46990;ADB90269;ADB90270;ADB90271;ADB91978;ADB91979;ADB91980;ADB91981;ADQ31803;BAA25751;BAF43729;BAF85279;BAG57845;EAW47571;EAW47572;EAW47573;EAW47574;NP_004553;NP_054642;NP_054643;O60260 Hs.132954 1331554;1336738;1338732;1340170;1341718;1645524;1652462;1677136;1693316;1704398;1706448;1707164;1710292;1714193;1718979;1719449;1726643;1752937;1755051;1763125;1764061;1766533;1767011;1778448;1792662;1857403;2118874;2119545;2121705;2128141;2148096;2149234;2153678;2153689;2155214;2165845;2171675;5022450;5024039;5037552;5109281;7183731;7187100;7189789;7189791 AFMa155td9;AFMb281wf1;D10S275;D11S1289;D16S325;D1S1425;D6S1404;D6S1550;D6S1599;D6S2153;D6S253;D6S305;D6S411;D6S955;D8S2279;FB8B6;G10328;G17030;G42363;G62556;PMC156308P1;RH119707;RH123198;RH123443;RH37445;RH37467;RH45460;RH76397;SHGC-106786;SHGC-141992;SHGC-146858;SHGC-147718;SHGC-149848;SHGC-152656;SHGC-53410;SHGC-79163;SHGC-79722;SHGC-80808;SHGC-85252;SHGC-8992;WI-11670 AR-JP;LPRS2;PDJ;PRKN E3 ubiquitin ligase;E3 ubiquitin-protein ligase parkin;OTTHUMP00000017562;OTTHUMP00000017563;OTTHUMP00000017564;OTTHUMP00000017565;OTTHUMP00000017566;OTTHUMP00000017567;Parkinson disease (autosomal recessive, juvenile) 2, parkin;parkin 2;parkinson disease protein 2;parkinson juvenile disease protein 2 APPROVED protein-coding ENSG00000185345 8607 03967 167000;211980;600116;602544;607572 REVIEWED 1604031 PARM1 prostate androgen-regulated mucin-like protein 1 4 4 4 q13.3-q21.3 73153545 73270621 + 76077322 76194347 + 75858285 75975325 + 6480464 11230166;18027867;16381901;15489336;15489334;15466293;15340161;14702039;12975309;12477932;12107410;22766399;11076863;8889548;10499539;12772192;20379614;18029348 25849 D6RBB6;Q6UWI2 ABBA01063342;AC098825;AC110760;AI767320;AI948471;AK022311;AK025205;AK026200;AL080121;AL602405;AMYH01014303;AY358777;BC013294;BG401757;BM512163;BM692302;CA388793;CA390477;CA843297;CH471057;NM_015393 AAH13294;AAQ89137;BAG51071;CAB45720;CAL38052;CAL38466;EAX05714;EAX05715;EAX05716;EAX05717;NP_056208;Q6UWI2 Hs.105460;Hs.623905 1644650;1654397;1654399;1658912;1669182;1669184;1674055;1684092;1713395;1715247;1735414;1856837;2164875 A005P21;A005X37;D4S2591E;D4S2887;D4S773;G20397;G20578;NIB1435;RH119553;RH119874;RH99328;SHGC-36704;WI-22409 Cipar1;DKFZP564O0823;PARM-1;WSC4 Castration-induced prostatic apoptosis-related protein 1;OTTHUMP00000219072;OTTHUMP00000219073;Prostatic androgen-repressed message 1;WSC4, cell wall integrity and stress response component 4 homolog;prostate androgen-regulated mucin-like protein 1;prostatic androgen-regulated mucin-like protein 1;prostatic androgen-repressed message-1 APPROVED protein-coding ENSG00000169116 24536 08529 VALIDATED 1348471 PARN poly(A)-specific ribonuclease The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 16 16 p13 14437060 14631540 - 14529557 14724128 - 1580863;6480464 9736620;15231747;19103158;18694759;17391638;17081983;16964243;16601207;16317009;16281054;15635413;15489334;15358788;15175153;14702039;14527413;12748283;12477932;12429849;11790298;11742007;11719186;11424938;11359775;11230136;10882133;10801819;10698948;10640832;9099687;18029348;19901024;20379614;19394292;16344560;21741754;21139048;21890473;21906983;20379136;20932473;23000965;23388391;22586326;22727665 5073 B3KN69;B4DSB0;F5H1Z4;H3BRK1;H3BT23;H3BVG1;O95453 ABBA01006890;ABBA01006891;ABBA01006892;ABBA01006893;ABBA01006894;ABBA01006895;AC009167;AC092291;AJ005698;AK023866;AK293189;AK299653;AK301648;AK303348;AK315020;AMYH01007181;AW338742;BC044763;BC050029;BF435512;CH471112;DA308295;NM_001134477;NM_001242992;NM_002582 AAH50029;ADZ15574;BAG37510;BAG51231;BAG56729;BAG61572;BAG63126;BAG64410;CAA06683;EAW85110;EAW85111;NP_001127949;NP_001229921;NP_002573;O95453 Hs.253197 1680845;1695336;1706152;1733276;1762965;1851680;1854691;1857159;2115819;2131638;2148365;2219456 CHLC.GGAT12E11;D15S543;D16S3298;PARN__5827;RH69315;RH69799;SHGC-146717;SHGC-60511;SHGC-60554;SHGC-64760;SHGC-7079;SHGC-80119 DAN deadenylating nuclease;deadenylation nuclease;poly(A)-specific ribonuclease (deadenylation nuclease);poly(A)-specific ribonuclease PARN;polyadenylate-specific ribonuclease APPROVED protein-coding ENSG00000140694 8609 07250 604212 REVIEWED 1348193 PARP10 poly (ADP-ribose) polymerase family, member 10 Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008] 8 8 8 q24.3 141366147 141374558 - 145123308 145132623 - 145051320 145060635 - 6480464 18851833;16455663;16344560;15674325;15489334;15273990;14702039;12477932;8125298;18029348;22176891;21139048;21890473;22505724;22992334 84875 E9PIA6;E9PIK9;E9PJI2;E9PK67;E9PLE8;E9PM86;E9PNI7;E9PPE7;E9PPU2;E9PPV8;E9PQQ6;E9PSE7;E9PSG8;F8W8G7;Q53GL7 ABBA01005230;ABBA01005231;ABBA01005232;ABBA01005233;AC109322;AI470346;AK027370;AK075250;AK124017;AK128537;AK129821;AK222914;AK303317;AK308657;AK309251;AMYH01019122;BC014229;BC019030;BC020378;BC030549;BC035485;BC132961;BC136542;BC144235;CH471162;DA124793;NM_032789 AAH14229;AAH19030;AAI32962;AAI36543;BAB55067;BAC11498;BAD96634;BAG54691;BAG64386;EAW82169;NP_116178;Q53GL7 Hs.348609 1779448 SHGC-153430 ARTD10;FLJ14464 ADP-ribosyltransferase diphtheria toxin-like 10;OTTHUMP00000229634;OTTHUMP00000229635;OTTHUMP00000229636;OTTHUMP00000229637;PARP-10;poly [ADP-ribose] polymerase 10 APPROVED protein-coding ENSG00000178685 25895 15100 609564 VALIDATED 1351589 PARP1P1 poly (ADP-ribose) polymerase family, member 1 pseudogene 1 13 13 13 q34 92435373 92439174 + 110386951 110390680 + 111588971 111592579 + 2891139 144 ABBA01026990;AL442128;AMYH01005379;NG_002655 5015994 Parp1 ADPRTP1;PPOLP1 pseudo 275 INFERRED 1606844 PARP1P2 poly (ADP-ribose) polymerase family, member 1 pseudogene 2 14 14 14 q22 43640302 43641236 + 62659377 62660506 + 63589719 63590653 + 2891139 145 ABBA01018319;AL137191;AMYH01005790;NG_002656 ADPRTP2;PPOLP2 pseudo 276 INFERRED 1344916 PARP11 poly (ADP-ribose) polymerase family, member 11 12 12 12 p13.3 5540003 5604577 - 3788288 3852863 - 3918027 3982608 - 1580863;6480464 17353931;16541075;16189514;15489334;15273990;14702039;12477932;8889548;19615732;20379614;17207965;19060904;23263487;20125193 57097 F5H8L8;F8WBZ7;F8WFA3;G3V0I3;Q9NR21 ABBA01048774;AC005842;AC006207;AF263540;AK096373;AK299372;AK314916;AMYH01004192;BC017569;BC031073;BX640960;BX647487;CH471116;CR749294;NM_020367 AAF91391;AAH17569;AAH31073;ADQ33190;BAG61362;CAE45979;CAH18149;EAW88852;EAW88853;EAW88854;EAW88855;EAW88856;NP_065100;Q9NR21 Hs.657268 1668604;1682475;1726019;1849834;2109403;2138095;2167750;2170032;2176780;5022450 D10S275;G41236;G41237;G41252;G41797;G62285;HSHIN1_9812;RH94352;SHGC-50260;WI-12349 ARTD11;C12orf6;DKFZp779H0122 ADP-ribosyltransferase diphtheria toxin-like 11;MIB006;OTTHUMP00000209901;OTTHUMP00000209902;OTTHUMP00000237988;PARP-11;poly [ADP-ribose] polymerase 11 protein-coding ENSG00000111224 1186 15101 VALIDATED 1318511 PARP12 poly (ADP-ribose) polymerase family, member 12 7 7 7 q34 134445394 134485377 - 139370018 139409990 - 139723549 139763521 - 1580863;6480464 15489334;14702039;12853948;12851707;12690205;12477932;11230166;9847074;19729601;16147992;19322201;21987572;22318606;22505724 64761 A4D1T0;G5E9U9;H7C4L8;H7C4T3;H7C4Z9;Q9H0J9 AACC02000022;ABBA01034055;ABBA01034056;AC004849;AC004961;AC025816;AF173884;AK026346;AL136766;AL137255;AMYH01017982;BC044660;BC081541;CH236950;CH471070;NM_022750 AAF66161;AAH81541;AAQ13631;BAB15457;CAB66700;CAB70657;EAL24033;EAW83938;EAW83939;NP_073587;Q9H0J9 Hs.12646 2170177 D7S2914 ARTD12;FLJ22693;MST109;MSTP109;ZC3H1;ZC3HDC1 ADP-ribosyltransferase diphtheria toxin-like 12;OTTHUMP00000211946;poly [ADP-ribose] polymerase 12;zinc finger CCCH domain-containing protein 1;zinc finger CCCH type domain containing 1 protein-coding ENSG00000059378 21919 15696 612481 PROVISIONAL 1345118 PARP1 poly (ADP-ribose) polymerase 1 This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008] 1 1 q41-q42 224615015 224662424 - 226548392 226595801 - 1601091;1601085;1580863;1601087;5510011;5510020;5510012;5510015;5510018;5510024;5510021;5683904;5683915;5683910;5683901;5683903;5683917;5684011;5684014;5683907;5683909;5683916;5684012;5683902;5684009;6480464;6907045 15911339;16461442;16026592;22051244;21850691;17976390;21884784;9390645;17362997;21767974;21596035;21978940;12594058;21651918;19741160;9670921;19454727;21705419;18716896;21311064;18093987;21282286;21613422;16356201 22683995;2513174;16107709;14734561;10958667;10944198;9518481;19604089;19568233;19536092;19484672;19369898;19368128;19344625;19281796;19181665;19147860;19144573;19139632;19124499;19116388;19109787;19103807;19087198;19074885;19064572;19060926;19056730;19030862;19029194;19012493;18996291;18990703;18954712;18779313;18773488;18768662;18752052;18676680;18676402;18676401;18663363;18636124;18619636;18599483;18506195;18483312;18452307;18445785;18439038;18376143;18357393;18347181;18339380;18338862;18330920;18314489;18312852;18258916;18230337;18164959;18078995;18073140;18055453;18054777;18054108;18025084;18006925;17975135;17943227;17908769;17900801;17889105;17884996;17785446;17703177;17616514;17596754;17560163;17548475;17540609;17529993;17518695;17459151;17428792;17413981;17385326;17360427;17314023;17295209;17290104;17283177;17225870;17220334;17203305;17187679;17172468;17158748;17148781;17088946;16920718;16904257;16890595;16889694;16628003;16627622;16621887;16620772;16492928;16412052;16405741;16386505;16364363;16344560;16328064;16323285;16306129;16284386;16262266;16212410;16207712;16179389;16123586;16115861;16002043;15940627;15895395;15866623;19513550;15826658;15821886;15819892;15808511;15777284;12592385;12528821;12519782;12496481;12477932;12217960;12117981;12011073;11956622;11941587;11846007;11790116;11781832;11756665;11591122;11590148;11536009;11509621;11443112;11258948;11248244;11248084;11070027;10964595;10799874;10744766;10471503;10467406;10405328;10082530;10077636;9642267;9586635;9584196;9565608;9563011;9537509;9398855;9315851;8804412;8491200;8125298;7642516;6293541;3121332;3120710;3113420;3103132;3029772;2891139;2824474;2498872;2434482;2125269;2123876;2121735;2109322;2108670;1505517;1424803;15103018;9548463;15498776;16429131;15781132;12404116;15650754;15767427;11123279;18206965;11948190;15774926;15750180;15743888;15737996;15731342;15729291;15705867;15703174;15672325;15640154;15635413;15607977;15572421;15564335;15555565;15536154;15498778;15489954;15489334;15375506;15374823;15342424;15331727;15304054;15292449;15286704;15280503;15257133;15247263;15205355;15133513;15110646;15044383;15019581;14759373;14754756;14715657;14702039;14699148;14642390;14623329;14612404;14596914;14585985;14559993;14557488;14500814;12960163;12930846;12898523;12853070;12714254;12704785;12674511;12673357;12668662;12642583;12640039;12632415;12606781;16407974;15100233;15580265;15205535;8226768;15186778;22586318;21986234;22542292;22624032;21031461;21447796;21575865;23644255;23824909;20977936;20399804;20473728;17242407;17244536;20668194;17322296;17403666;17803295;17961220;20967817;21183686;21266351;12897160;14627987;16490787;17283121;17396150;17562258;17643375;18172500;18279607;18587655;18695944;19170196;19247804;19303849;19372636;19447888;19506301;19515826;19529948;19544333;19553815;19557639;19585117;19607827;19615732;19625176;19636556;19643912;19655414;19661379;19666485;19680243;19684606;19692168;19703477;19710015;19711368;19723035;19779455;19784367;19784808;19789190;19809895;19812418;19863315;19877712;19897724;19916945;19925161;19961617;19962992;19996272;20016407;20025963;20060806;20064938;20068062;20072652;20085707;20113831;20145242;20150366;20177052;20181890;20196871;20219917;20223788;20232390;20353610;20373286;20453000;20486200;20495366;20522537;18922045;18945670;19622798;19759913;19762472;20211142;20731661;20817730;20837404;21037106;20493163;20218899;20388712;20514865;20603072;20629644;20832725;16449973;16522924;16543152;16682447;16794079;20573551;20875401;20137830;22153339;22300411;22387748;22447567;20587588;20876582;21095583;19913121;20544540;20559012;20574454;20628086;20644561;20665026;20550106;20564216;20940411;16204234;20823142;21127267;17214964;20124459;20493910;20561897;20562859;20652015;20711239;21187397;21256093;21293287;20302655;20303835;20596014;21489980;21518760;10400681;21469519;20868244;21224467;18258596;18280497;18406329;20950443;15615785;21182205;23022380;16799643;23132853;23169665;23182705;21680843;15576338;17340613;20564261;22392482;21434873;21646373;21577210;20038529;20504901;20525793;21487248;21730054;15674325;15848144;21081666;21568846;21555554;21424107;21547351;21756783;22118674;17308091;18781797;20098424;20639865;21690293;21825151;21849329;21858164;21915713;21942715;21987572;19135240;20619687;21532888;21674737;21875946;16196087;20000738;20953586;21460625;18259216;19471022;20080577;21607289;21907836;21976405;21997878;22158865;22198485;19596686;21729562;22384823;22983827;21139048;21549307;21693764;21890473;21906983;21945626;22057269;22146311;21605336;21612407;23031826;17361185;19322201;20129057;21476963;21679440;21908496;22101337;22134241;22472897;22550344;22634764;21775006;21252943;22120020;22166496;22227934;22344029;22582261;21983785;22221038;22334709;22337872;22450322;22451931;18029348;22660976;15561718;21145461;21319273;22753495;9197546;16188097;22412018;23317230;23455922;22127734;22864776;22982218;23040216;23244082;23398456;9875225;23020228;23229555;23554447;23593027;23049934;16230076;23104860;23319653;23355608;23510475;7596430;23568489;22454210;23255787;10750018;22880082;22939629;23045548;9312059;22948662;20404718;22053931;22216281;22844406;22854955;22944692;23229313;23275151;23429506;23479135;23027378;19470756;22193445;22820184;23038248;15385968;16818775;19738201;21282530;21988832;22623428;22751105;22863007;23000965;23073772;23110147;23085506;23219533 142 P09874;Q5VX84;Q5VX85 ABBA01009640;AF401218;AF524947;AK125650;AK225654;AK303340;AK312339;AL359704;AL359742;AMYH01001779;BC008660;BC014206;BC018620;BC021045;BC037545;CH471098;DB097441;HD117904;J03473;M17081;M18112;M29786;M32721;M60436;NM_001618;X16674;X56140 AAA51599;AAA51663;AAA60000;AAA60137;AAA60155;AAB59447;AAH14206;AAH18620;AAH37545;AAL02174;AAM75364;ABM82562;ABM85752;BAG35260;BAG64403;CAA34663;CAA39606;CBX74363;EAW69783;EAW69784;EAW69785;NP_001609;P09874 Hs.177766 1647898;1673473;1696482;1742429;1757369;1788018;1788020;1788022;1788024;1788026;1788028;1788030;1788032;1788034;1788036;2114779;2131191;2216996;5016881;5109751;5126437 ADPRT_3241;D1S2048E;G07110;G67244;G67245;G67246;G67247;G67248;G67249;G67250;G67251;G67252;G67253;GDB:196988;RH11161;RH70493;SHGC-144766;SHGC-30345;SHGC-76015;SHGC-76463;SHGC-79808 ADPRT;ADPRT 1;ADPRT1;ARTD1;PARP;PARP-1;PPOL;pADPRT-1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase);ADP-ribosyltransferase NAD(+);ADP-ribosyltransferase diphtheria toxin-like 1;NAD(+) ADP-ribosyltransferase 1;OTTHUMP00000035663;poly (ADP-ribose) polymerase family, member 1;poly [ADP-ribose] polymerase 1;poly(ADP-ribose) polymerase;poly(ADP-ribose) synthetase;poly(ADP-ribosyl)transferase;poly[ADP-ribose] synthase 1 2299934;2299935 PRSTS333_H;PRSTS334_H APPROVED protein-coding ENSG00000143799 270 01435 173870 REVIEWED 5688620 PARP4-AS1 PARP4 antisense RNA 1 (non-protein coding) q12.12 100861592 AL359763 miscrna 42806 1353563 PARP4P1 poly (ADP-ribose) polymerase family, member 4 pseudogene 1 Y Y Y q11.23 9672620 9712607 - 27150118 27190290 - 28740815 28780802 - 12815422 347613 ABBA01015475;ABBA01015476;ABBA01015477;ABBA01015478;ABBA01015479;AC019099;NG_002802 2145393;2187937;2187939;2187975;2187977;5116756;5116758;5116760;5116762 G66111;G66112;G66133;G66134;SHGC-3231;sY3166;sY3168;sY3169;sY3170 ADPRTL1P;PARP4P;PARP4PY1 APPROVED pseudo 18500 INFERRED 1344897 PARP14 poly (ADP-ribose) polymerase family, member 14 Poly(ADP-ribosyl)ation is an immediate DNA damage-dependent posttranslational modification of histones and other nuclear proteins that contributes to the survival of injured proliferating cells. PARP14 belongs to the superfamily of enzymes that perform this modification (Ame et al., 2004 [PubMed 15273990]).[supplied by OMIM, Mar 2008] 3 3 3 q21.1 120809505 120859520 + 123882362 123932377 + 122399672 122449687 + 6480464;6484113 17478423;16344560;16061477;15273990;14702039;12477932;10574462;21145461;17875708;18029348;16537510;21333322;21081493;21139048;21890473;22505724 54625 H7C4Y3;H7C5R8;Q460N5;Q8N546 AA890511;AB033094;ABBA01016467;AC048348;AC092908;AK001770;AK022542;AK026003;AK027260;AK098816;AK304269;AMYH01013430;AU117601;AY134858;BC032804;BC039604;BU170133;BX648758;CH471052;CR977108;DC320673;DQ063584;DQ063585;NM_017554 AAH32804;AAI72392;AAN08627;AAY64449;AAY64450;BAA86582;BAA91897;BAB14089;BAG65132;EAW79467;EAW79468;EAW79469;EAW79470;NP_060024;Q460N5 Hs.518203 1678509;1725547;2153839;5037552;5109281;5116978 D1S1425;D3S4230;D8S2279;RH119172;RH93641;ha3298 ARTD8;BAL2;KIAA1268;PARP-14;pART8 ADP-ribosyltransferase diphtheria toxin-like 8;B-aggressive lymphoma 2;OTTHUMP00000215803;OTTHUMP00000215804;PARP-14;b aggressive lymphoma protein 2;collaborator of STAT6;poly [ADP-ribose] polymerase 14 APPROVED protein-coding ENSG00000173193 29232 11421 610028 VALIDATED 3207651 PARP4P2 poly (ADP-ribose) polymerase family, member 4 pseudogene 2 13 13 13 q12.11 985133 1044155 + 18857638 18880293 + 19923276 19982293 + 645771 ABBA01068554;ABBA01068555;AL356259;AMYH01004936;AMYH01004937;NG_011399 1693632;1737399;2124358;2187939 A010A27;D13S979;G66112;SHGC-58546 KIAA1074 pseudo 37760 INFERRED 1353381 PARP15 poly (ADP-ribose) polymerase family, member 15 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008] 3 3 3 q21.1 120706259 120765360 + 123817215 123838226 + 122296449 122355536 + 1580863 16344560;16061477;15489334;15273990;14702039;12477932;19913121;20628086;21832049;22472876 165631 B7ZL48;C9J7L3;J3KR47;Q460N3 ABBA01016467;AC092908;AK097515;AK097916;AMYH01013430;BC101701;BC101703;BC143573;BX647656;CH471052;DB158535;DQ063586;NM_001113523;NM_152615 AAI01702;AAI01704;AAI43574;AAY64451;BAC05197;BAG53481;EAW79473;EAW79474;EAW79475;NP_001106995;NP_689828;Q460N3 Hs.120250 5015607;5022637;5118147 D11S2766;D11S3014;D11S3017 ARTD7;BAL3;FLJ40196;FLJ40597;MGC126750;MGC126752;pART7 ADP-ribosyltransferase diphtheria toxin-like 7;B-aggressive lymphoma 3;B-aggressive lymphoma protein 3;OTTHUMP00000215684;OTTHUMP00000215685;OTTHUMP00000215801;OTTHUMP00000215802;PARP-15;poly [ADP-ribose] polymerase 15 APPROVED protein-coding ENSG00000173200 26876 08811 612066 VALIDATED 1602134 PARP2 poly (ADP-ribose) polymerase 2 This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008] 14 14 q11.2-q12 19881613 19895903 + 20811773 20826063 + 6480464;6907045 19505873;15615785;7260241;19064572;18676401;18644123;18353725;18339380;17518695;16461352;16344560;14702039;14699148;11948190;10644454;10364231;10338144;10329013;12217960;12065591;18587655;19806447;20092359;20522537;19913121;20628086;19607827;19666485;20504901;21577210;21825151;23291187;21139048;21890473 10038 E9PJ27;G3V167;H0YH02;Q9UGN5 ABBA01061225;AF085734;AF479321;AJ236876;AJ236912;AK001980;AK290079;AK300971;AL355075;AMYH01005586;AMYH01005587;AX008892;BU541261;CH471078;DA354586;NM_001042618;NM_005484 AAD29857;AAI72288;AAL77437;BAA92017;BAF82768;BAG62594;CAB41505;CAB65088;CAC07442;EAW66476;EAW66477;EAW66478;NP_001036083;NP_005475;Q9UGN5 Hs.409412 1654789;1654791;1685936;1721015;2140286 G24108;G31064;G36285;G59489;RH93704 ADPRT2;ADPRTL2;ADPRTL3;ARTD2;PARP-2;pADPRT-2 ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2;ADP-ribosyltransferase diphtheria toxin-like 2;ADPRT-2;NAD(+) ADP-ribosyltransferase 2;OTTHUMP00000231900;OTTHUMP00000231902;OTTHUMP00000231904;hPARP-2;poly (ADP-ribose) polymerase family, member 2;poly (ADP-ribosyl) transferase-like 2;poly [ADP-ribose] polymerase 2;poly(ADP-ribose) synthetase;poly[ADP-ribose] synthase 2;poly[ADP-ribose] synthetase 2 APPROVED protein-coding ENSG00000129484 272 607725 REVIEWED 1350046 PARP16 poly (ADP-ribose) polymerase family, member 16 15 15 15 q22.31 42428416 42457181 - 63337490 63366071 - 65550437 65579018 - 6480464 23103912;12477932;15489334;15273990;14702039;19953087;21139048;22318606;22505724 54956 H3BV75;Q8N5Y8 ABBA01038857;ABBA01038858;ABBA01038859;AC068213;AK000516;AK058010;AMYH01006717;AMYH01006718;BC006389;BC031074;CH471082;NM_017851 AAH06389;AAH31074;ADZ15717;BAA91222;EAW77718;EAW77719;EAW77720;EAW77721;NP_060321;Q8N5Y8 Hs.30634 1668139 WI-12537 ARTD15;C15orf30;FLJ20509;FLJ25281;pART15 ADP-ribosyltransferase diphtheria toxin-like 15;OTTHUMP00000164178;PARP-16;mono [ADP-ribose] polymerase PARP16;poly [ADP-ribose] polymerase 16 protein-coding ENSG00000138617 26040 07919 PROVISIONAL 1604647 PARP3 poly (ADP-ribose) polymerase family, member 3 The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 3 3 p21.31-p21.1 51951401 51957923 + 51976361 51982883 + 6480464;6907045 21264220;17353931;7260241;10338144;17203305;16924674;15489334;12640039;12477932;12107410;10737800;10329013;19692168;20064938;19913121;20628086;21211721;21270334;21832049 10039 C9J9C7;F8WAY7;Q9Y6F1 AB208803;ABBA01024518;AC115284;AF083068;AI088919;AL050034;AMYH01013180;AX008894;AX008896;AY126341;BC014260;BF375394;BG818516;BU632340;CA394313;CH471055;NM_001003931;NM_005485;Y16836 AAD29855;AAH14260;AAM95460;ADZ15443;BAD92040;CAB43246;CAC07443;CAC07444;CAC79988;EAW65160;EAW65161;EAW65162;EAW65163;NP_001003931;NP_005476;Q9Y6F1 Hs.271742 2117258;2142619 RH45748;SGC30878 ADPRT3;ADPRTL2;ADPRTL3;ARTD3;IRT1;PADPRT-3 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 2;ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3;ADP-ribosyltransferase diphtheria toxin-like 3;ADPRT-3;NAD(+) ADP-ribosyltransferase 3;NAD+ ADP-ribosyltransferase 3;OTTHUMP00000211034;OTTHUMP00000212047;poly [ADP-ribose] polymerase 3;poly(ADP-ribose) synthetase-3;poly[ADP-ribose] synthase 3;poly[ADP-ribose] synthetase 3 APPROVED protein-coding ENSG00000041880 273 06370 607726 REVIEWED 1347584 PARP9 poly (ADP-ribose) polymerase family, member 9 3 3 3 q21 120656569 120693333 - 123729461 123766114 - 122246757 122283523 - 737633;6480464 12477932 11110709;18339380;16809771;16344560;15489334;15342556;14702039;12670957;8889548;15902274;22939629;23230272;21139048;21890473;22472876 83666 C9K0E5;G5E9U8;Q59ER9;Q8IXQ6 AB209742;ABBA01016467;AC092908;AC096861;AF307338;AF307339;AK092629;AK123412;AK125581;AK130147;AK292959;AK299107;AK313494;AL713679;AL832929;AMYH01013430;BC017463;BC039580;BP259272;BU675792;BX648869;CH471052;DB096326;DC309545;DC368112;NM_001146102;NM_001146103;NM_001146104;NM_001146105;NM_001146106;NM_031458 AAH39580;AAK07558;AAK07559;BAD92979;BAF85648;BAG36276;BAH12952;CAD28483;CAH56133;CAH56290;EAW79477;EAW79478;EAW79479;NP_001139574;NP_001139575;NP_001139576;NP_001139577;NP_001139578;NP_113646;Q8IXQ6 Hs.518200 1686836 RH91264 ARTD9;BAL;BAL1;DKFZp666B0810;DKFZp686M15238;FLJ26637;FLJ35310;FLJ41418;FLJ43593;MGC:7868 ADP-ribosyltransferase diphtheria toxin-like 9;OTTHUMP00000215678;OTTHUMP00000215679;OTTHUMP00000215680;OTTHUMP00000215681;OTTHUMP00000215682;PARP-9;b aggressive lymphoma protein;poly (ADP-ribose) polymerase 9;poly [ADP-ribose] polymerase 9 protein-coding ENSG00000138496 24118 10686 612065 VALIDATED 1606845 PARP4 poly (ADP-ribose) polymerase family, member 4 This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008] 13 13 q11 23893069 23984948 - 24995069 25086948 - 6480464;6907045 10100603;10644454;15169895;12101391;12140175;12123754;10477748;11291045;11855821;11479319;18676680;17203305;16344560;15057823;12829019;12477932;10551828;8724849;7937745;15781132;12404116;21658281;19170196;19536092;19625176;19692168;20379614;18029348;22939629;21139048;21906983;19471022;21963094;21988832;23000965;23251661;23438482;22190034;22505724 143 Q9UKK3 ABBA01007890;ABBA01007891;AF057160;AF158255;AK304399;AL359763;AMYH01004974;BC017815;BX479127;CA308288;CH471075;CV574448;D79999;DB238428;NM_006437;T10289 AAC62491;AAD47250;AAH17815;AAI67791;BAA11494;BAG65234;EAX08336;NP_006428;Q9UKK3 Hs.744855 1693632;1737401;2109629;2117851;2123437;2124358;2124391;2145393;2150517;2155298;5094006;5108018 A010A27;D13S980;G33050;PARP4_8194;RH25392;RH44582;RH44920;RH68557;SHGC-3231;SHGC-58546;STS-H65490;WI-17731 ADPRTL1;ARTD4;PARP-4;PARPL;PH5P;VAULT3;VPARP;VWA5C;p193 193 kDa vault protein;ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1;ADP-ribosyltransferase diphtheria toxin-like 4;H5 proline-rich;I-alpha-I-related;OTTHUMP00000018130;PARP-related;PARP-related/IalphaI-related H5/proline-rich;poly [ADP-ribose] polymerase 4;poly(ADP-ribose) synthetase;poly(ADP-ribosyl)transferase-like 1;vault poly(ADP-ribose) polymerase;vault protein, 193-kDa;von Willebrand factor A domain containing 5C APPROVED protein-coding ENSG00000102699 271 09598 607519 REVIEWED 1344996 PARP6 poly (ADP-ribose) polymerase family, member 6 15 15 15 q23 49419859 49449959 - 70320576 70350682 - 72533522 72563628 - 6480464 20379614;16344560;15489334;15273990;14702039;12477932;22863883;22318606;23042038 56965 F5H3B4;H3BMA3;H3BQ70;H3BQK2;H3BQM7;H3BRR4;H3BRZ3;H3BSK7;H3BTE2;H3BTI3;H3BUQ6;H3BUY2;Q2NL67 AB499727;AB499728;ABBA01038734;AC009690;AK021790;AK022547;AK024703;AK091172;AK126416;AL122091;AL390087;AL390093;AMYH01006761;BC015176;BC015314;BC026955;BC110902;BC119688;BC119689;CH471082;DB121441;NM_020214 AAH15314;AAI10903;AAI19689;AAI19690;BAB13896;BAB14092;BAB14969;BAG54325;BAM37974;BAM37975;CAB59261;CAB98210;CAB98250;EAW77891;EAW77892;EAW77893;EAW77894;EAW77895;EAW77896;EAW77897;EAW77898;EAW77899;NP_064599;Q2NL67 Hs.270244 1649021;1752831;2154323;5015621;5022651;5024545 D11S2921;D11S3732;D1S3695;RH44558;SHGC-106695;SHGC-34438 ARTD17;MGC131971;PARP-6-B1;PARP-6-C;pART17 ADP-ribosyltransferase diphtheria toxin-like 17;OTTHUMP00000164645;PARP-6;poly [ADP-ribose] polymerase 6 protein-coding ENSG00000137817 26921 15102 PROVISIONAL 1350347 PARP8 poly (ADP-ribose) polymerase family, member 8 5 5 5 q11.1 46908424 47088865 + 49998570 50173933 + 49961733 50142356 + 1580863;6480464 11256614;16381901;15489336;15489334;15273990;14702039;12477932;11230166;11076863;8125298;22685421;21890473 79668 B2RB27;D6R914;D6R9T2;D6RAL6;D6RB30;D6RC81;D6RCA6;D6RCN2;D6RF37;D6RF59;D6RFH0;D6RGZ9;E9PFI7;F5H3X8;Q8N3A8 ABBA01015698;ABBA01015699;ABBA01015700;AC008919;AC022441;AC112187;AK024961;AK225188;AK289369;AK298680;AK314466;AL834477;AMYH01015072;AMYH01015073;AMYH01015074;BC037386;BC075801;BC105789;CH471123;DC417471;DC429180;NM_001178055;NM_001178056;NM_024615 AAH37386;AAH75801;AAI05790;BAB15044;BAF82058;BAG37074;BAG60843;CAD39136;CAL37882;EAW54857;EAW54858;EAW54859;NP_001171526;NP_001171527;NP_078891;Q8N3A8 Hs.369581 1671603;1701446;1735566;2138732;2144135;5093422 A009O31;D5S1682E;G32709;RH104355;WI-16811;WI-18174 ARTD16;FLJ21308;MGC42864;pART16 ADP-ribosyltransferase diphtheria toxin-like 16;OTTHUMP00000122441;OTTHUMP00000221823;OTTHUMP00000221824;OTTHUMP00000221827;poly [ADP-ribose] polymerase 8 protein-coding ENSG00000151883 26124 07960 VALIDATED 1605996 PARPBP PARP1 binding protein 12 12 12 q23.2 102177976 102255257 + 101038086 101115428 + 102513956 102591298 + 6480464 16344560;15489334;14702039;12477932;20931645;19893584;20379614;18029348;21963094;23039964;21906983;22153967;23436799;22505724 55010 B4DT40;B4DZ31;G8JLI2;H0Y6B3;J3KQY3;Q86W36 AA757264;ABBA01053230;ABBA01053231;AC079907;AC087882;AF274940;AK000648;AK300041;AK302724;AK303571;AMYH01004704;BC014313;BC018903;BC030962;BC050696;BC070270;BC098297;BC098313;BC099734;BC099844;CH471054;DB260405;NM_017915 AAH18903;AAH30962;AAH50696;AAH70270;AAH98313;AAH99734;AAH99844;AAK07517;BAA91306;BAG61852;BAG63943;BAG64592;EAW97690;EAW97691;EAW97692;NP_060385;Q9NWS1 Hs.330663 1697068;1743535;2169181;2186960;2189409;2189507 D12S1939;D5F143S1;G73161;MARC_5061-5062:991939462:1;RH102014;RH65938 AROM;C12orf48;FLJ20641;PARI OTTHUMP00000237306;OTTHUMP00000237310;OTTHUMP00000237311;OTTHUMP00000237313;PARP-1 binding protein;PARP1-binding protein;PCNA-interacting partner;hypothetical protein LOC55010 APPROVED protein-coding ENSG00000185480 26074 07937 613687 VALIDATED 1603670 PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative) 1 1 1 p32.2 53510168 53517823 - 54995159 55002775 - 55222571 55230226 - 6480464 16710414;15779907;15489334;14702039;12477932;17207965;20877624;16344560;20562859;20186120;21890473;23263184 25973 Q7L3T8 ABBA01074707;AK025585;AK289679;AL117473;AL139244;AMYH01000640;BC007956;BC011758;CH471059;DB004072;NM_152268 AAH07956;AAH11758;ADQ32706;BAB15178;BAF82368;CAB55948;EAX06669;NP_689481;Q7L3T8 Hs.380169 1853942 SHGC-33399 DKFZp727A071;MGC14416;MGC19467;MT-PRORS OTTHUMP00000011559;proRS;probable proline--tRNA ligase, mitochondrial;probable prolyl-tRNA synthetase, mitochondrial;proline tRNA ligase 2, mitochondrial (putative);proline--tRNA ligase;prolyl-tRNA synthetase (mitochondrial)(putative);prolyl-tRNA synthetase, mitochondrial (putative) protein-coding ENSG00000162396 30563 13220 612036 VALIDATED 2302586 PART1 prostate androgen-regulated transcript 1 (non-protein coding) This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009] 5 5 5 q12.1 56724647 56784588 + 59797799 59852988 + 59783540 59843484 + 6480464 15489334;14702039;12477932;10706094;8619474;9110174 25859 ABBA01015801;AC008818;AC016591;AC109486;AF070547;AF163474;AF163475;AK094518;AK312071;AL050198;AMYH01015107;AMYH01015108;BC069304;BC096696;BC096727;BC098111;BQ898163;NR_024617;NR_028508;NR_028509 AAF62861;AAF62862;BAG35007 Hs.146312 1758485;1773828;2179583;2220380;2220452;5022588 D5S1597E;RH69891;SHGC-148443;UniSTS:480954;UniSTS:482676;WI-21199 DKFZp586D0823;NCRNA00206 APPROVED miscrna ENSG00000152931 17263 09230 604991 VALIDATED 1346433 PASD1 PAS domain containing 1 This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010] X X q28 150482663 150595867 + 150732007 150845211 + 1580863;6480464 18029348;16381901;16344560;16112646;15489336;15162151;15122589;14702039;12477932;11256614;11076863;17024112;17114574;19552722;19886887;20861911;21832049;19471022;21693764 139135 Q8IV76 ABBA01037236;ABBA01037237;ABBA01037238;ABBA01037239;ABBA01037240;ABBA01037241;ABBA01037242;ABBA01037243;ABBA01037244;ABBA01037245;ABBA01037246;ABBA01037247;ABBA01037248;AF274854;AK097552;AMYH01023224;AMYH01023225;AY270020;AY623425;BC040301;BX546454;CH471169;DB095017;DB523527;NG_021218;NM_173493 AAH40301;AAQ01136;AAT49049;BAC05097;CAL37909;EAW99406;NP_775764;Q8IV76 Hs.160594 1696888;1703888;1758093;1779974;1787206;1787330;1795170 HSC268_(Di92);SHGC-106509;SHGC-147385;SHGC-154179;SHGC-154220;SHGC-83595;c03503sbk CT63;OXTES1 OTTHUMP00000025872;PAS domain-containing protein 1;cancer/testis antigen 63 APPROVED protein-coding ENSG00000166049 20686 06613 REVIEWED 2302531 PATE3 prostate and testis expressed 3 11 11 11 q24.2 122818224 122821713 + 125658006 125661495 + 125658006 125661495 + 18390568;18387948;11181995 100169851 B3GLJ2 ABBA01031238;AMYH01004108;AP003087;CH471065;EF426753;EU703625;NM_001129883 ABR09862;ACD81924;B3GLJ2;EAW67664;NP_001123355 Hs.131278 HEL-127;PATE-DJ OTTHUMP00000231318;PATE-like protein DJ;acrosomal vesicle protein HEL-127;prostate and testis expressed protein 3;secreted TFP/Ly-6/uPAR protein PATE-DJ protein-coding ENSG00000236027 35426 VALIDATED 1322969 PARVB parvin, beta This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 22 22 q13.2-q13.33 42726506 42896439 + 44395091 44565113 + 1580863;2300344;6480464 16493410 17353931;18325335;17998334;15835269;15489334;15467740;15284246;15159419;15005707;12529303;12499396;12477932;12372433;11722847;11402068;11171322;10810093;10591208;22719876;20164304;20379614;20736946;20345489;22939629;15342556;16314921;19885839;19924298;21295579;21483694;21625516;21139048;23455922;23535911;23535033;23382691;22869380;23099104 29780 B0QYP6;B0QYP8;Q9UGT3 AB048276;ABBA01014590;ABBA01014591;ABBA01014592;ABBA01014593;ABBA01014594;ABBA01014595;AF151814;AF237769;AF303887;AK308443;AK309987;AK313957;AL031595;AL033543;AL035398;AL159142;AMYH01012832;AMYH01012833;BC017461;BC039811;BC046103;BG743702;BP339885;CA308417;CB044150;CH471138;NG_029743;NM_001003828;NM_001243385;NM_001243386;NM_013327;Z82174;Z82178 AAD34051;AAG27171;AAH46103;AAL08219;BAB62077;BAG36673;CAB76900;EAW73328;EAW73329;EAW73330;EAW73331;NP_001003828;NP_001230314;NP_001230315;NP_037459;Q9HBI1 Hs.475074 1341378;1685720;1748379;1748381;1753983;1781078;1784492;1789220;2157344 D22S1171;D22S1241;G65608;G65730;G65736;RH75363;SHGC-132012;SHGC-132330;stbK70A10TV CGI-56;FLJ17029 OTTHUMP00000198195;OTTHUMP00000198196;OTTHUMP00000198197;affixin;beta-parvin APPROVED protein-coding ENSG00000188677 14653 16284 608121 REVIEWED 1352322 PARVA parvin, alpha This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] 11 11 p15.3 12355722 12507986 + 12399026 12556903 + 1580863;2300344;6480464 16493410 17353931;18940607;18508764;15817463;15489334;15353548;15284246;15242332;14702039;12477932;12432066;11722847;11694518;11331308;11171322;11134073;16189514;12654898;12960424;14551191;16314921;16860736;18722108;18952167;19633364;20005845;20717960;17207965;18029348;20400778;22863883;17553790;19850743;21900206;21139048;19322201;22441983;21832049;22955285;23099104;20706999;23000965;23056266 55742 B7Z952;E9PS97;F5H1R9;J3KNQ4;Q9NVD7 ABBA01061131;ABBA01061132;ABBA01061133;ABBA01061134;ABBA01061135;AC009806;AC025300;AF237771;AF325830;AK001655;AK022316;AK057835;AK098504;AK128814;AK304444;AMYH01003394;BC014535;BC016713;CH471064;DC344538;NM_018222 AAG27173;AAH14535;AAH16713;AAK49911;ACE87003;ADQ32692;BAA91815;BAB14009;BAH14188;EAW68523;EAW68524;EAW68525;NP_060692;Q9NVD7 Hs.432914 1643808;1658202;1687676;1716103;1721899;1737233;1782442;2110869;2146705;2174893;2176547;5022578;5094390 D11S1049;D11S3101;D11S973E;D1S1423;G54650;G59980;RH121016;RH16363;RH94062;SHGC-155066;STS-AA037636;STS-N23290;WI-13804 CH-ILKBP;FLJ10793;FLJ12254;FLJ25106;FLJ46049;MXRA2 CH-ILKBP;OTTHUMP00000230952;actopaxin;alpha-parvin;calponin-like integrin-linked kinase-binding protein;matrix-remodeling-associated protein 2;matrix-remodelling associated 2 APPROVED protein-coding 14652 16283 608120 REVIEWED 2302529 PATE4 prostate and testis expressed 4 11 11 11 q24.2 122863433 122870194 + 125208427 125215177 + 125703211 125709967 + 6480464 18390568;18387948;14702039;22402205 399968 E9PK74;P0C8F1 ABBA01031237;AI674374;AK123042;AK311509;AMYH01004108;AP000842;AP003087;AW296313;NM_001144874 NP_001138346;P0C8F1 Hs.436215 FLJ41047;PATE-B OTTHUMP00000229024;PATE-like protein B;prostate and testis expressed protein 4;prostate and testis expression B protein-coding ENSG00000237353 35427 VALIDATED 1606693 PATE1 prostate and testis expressed 1 11 11 11 q24.2 122776443 122779997 + 125121398 125124953 + 125616188 125619743 + 6480464 18387948;15798027;12477932;11880645;22402205 160065 Q8WXA2 ABBA01031238;AF462605;AMYH01004108;AP003087;BC039863;BC107044;CH471065;NM_138294 AAH39863;AAI07045;AAL68667;EAW67660;EAW67661;EAW67662;NP_612151;Q8WXA2 Hs.148565 2107483 PATE__7045 MGC129554;PATE OTTHUMP00000231314;OTTHUMP00000231315;expressed in prostate and testis;prostate and testis expressed protein 1 protein-coding ENSG00000171053 24664 06034 606861 VALIDATED 1322037 PARVG parvin, gamma Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004] 22 22 22 q13.31 28482807 28516991 + 42908190 42933868 + 44568836 44603035 + 1580863;2300344;6480464 16493410 11171322;16517730;16344560;15993274;15489334;15461802;15342556;12529303;12477932;11722847;10591208;8125298;21832049;21139048;21890473;21988832;23146538 64098 B0QYM9;B0QYN0;Q9HBI0 ABBA01014595;ABBA01014596;AF237772;AI075834;AK225929;AK293360;AK307294;AK307299;AK309348;AK310087;AL031595;AL355092;AL590887;AMYH01012833;BC034406;BI818662;BP299653;BP299720;BX648942;CA440742;CH471138;CR456480;DA673498;DA946316;NM_001137605;NM_001137606;NM_001254741;NM_001254742;NM_001254743;NM_022141 AAG27174;AAH34406;BAG56876;CAB90188;CAC37414;CAG30366;CAK54461;CAK54760;EAW73332;EAW73333;EAW73334;EAW73335;EAW73336;NP_001131077;NP_001131078;NP_001241670;NP_001241671;NP_001241672;NP_071424;Q9HBI0 Hs.658995;Hs.666944 1685802;1747579;1767123 D22S1552;G65453;RH91452 OTTHUMP00000197436;gamma-parvin APPROVED protein-coding ENSG00000138964 14654 16285 608122 VALIDATED 1602157 PATE2 prostate and testis expressed 2 11 11 11 q24.2 122806243 122808931 - 125151235 125153924 - 125646025 125648714 - 18387948;12975309;12477932;22402205 399967 Q6UY27 ABBA01031238;AMYH01004108;AP003087;AY358105;BC137190;BC137193;BC144526;CH471065;NM_212555 AAI37191;AAI37194;AAI44527;AAQ88472;EAW67663;NP_997720;Q6UY27 Hs.369185 C11orf38;PATE-M;UNQ3112 LVLF3112;OTTHUMP00000231316;OTTHUMP00000231317;PATE-like protein M;prostate and testis expressed protein 2;prostate and testis expression M protein-coding ENSG00000196844 32249 15617 VALIDATED 1313673 PAX2 paired box 2 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor supressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 10 10 q24 102495458 102579688 + 102505468 102589698 + 1580863;2316757;2316747;727468;2316755;6480464;7240710 7937920;15149326;12444203;12057921 9106533;18000879;19467152;19228645;19118900;19048125;18941400;18685487;18609495;18439754;18379529;18056486;17529925;17513325;17269592;16971658;16814811;16735463;16609680;16509931;16436683;16400326;15808183;15652857;15561999;15502805;14627715;14603255;14566649;14561758;12970747;12697057;12200151;12141441;11940591;11826030;11730657;11700324;11461952;11241473;11168927;11134340;11093271;10938089;10908331;10533062;9760197;9738017;9439670;9297966;9132492;8889548;8760285;8661132;8589702;8431641;8241771;7981748;7819127;7795640;1378753;22473392;20670131;16385451;19401348;19517575;19525924;19556301;19851209;19959718;20061933;9178767;20413145;20358591;16368682;22138676;20631067;20301624;22495365;22660956;21263247;10980123;1337742;17357786;7856737;21934480;21575608;21380624;21730820;23194047;21836481;21989345;21876729;22683154;21108633;23137159;21696512;22213154;20061627;22169637;22552444;22727345;20301552;22080059;21880590;23202787;23135283;22984579;22274645;22807381 5076 G3V3X9;G3V5M8;G3V5S4;G3V5U4;Q02962;Q5SZP1 ABBA01063217;AF515729;AL138762;AL589862;AMYH01003001;AY153483;AY153484;BM671839;CH471066;L09747;L25597;M89470;NG_008680;NM_000278;NM_003987;NM_003988;NM_003989;NM_003990;U45245;U45247;U45248;U45249;U45250;U45251;U45252;U45253;U45254;U45255 AAA36417;AAA60024;AAC41711;AAC63385;AAI41453;AAI48711;AAN77093;AAN77899;AAN77900;EAW49809;EAW49810;EAW49811;EAW49812;EAW49813;EAW49814;EAW49815;EAW49816;NP_000269;NP_003978;NP_003979;NP_003980;NP_003981;Q02962 Hs.155644 1660532;1683489;1730980;2113090 D10S2454;D10S2478;D10S278;RH80285 PAPRS OTTHUMP00000020286;OTTHUMP00000020287;OTTHUMP00000245031;paired box homeotic gene 2;paired box protein Pax-2 APPROVED protein-coding ENSG00000075891 8616 01330 120330;167409;191830 REVIEWED 1314594 PASK PAS domain containing serine/threonine kinase This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 2 2 q37.3 241694188 241737551 - 242045514 242089394 - 1580863;6480464 21181396;17353931;17595531;15489334;15302935;15148392;14702039;12477932;12377121;12168954;11688972;11459942;9110174;8619474;8590280;18029348;20943661;22219681;21327866;16344560;16275910;22065581;21139048;21906983;22939624;23456168 23178 B7Z7R6;B7Z7V7;C9J1Z3;C9J4R3;F5GYW7;F8WEB4;H7C0L7;Q96RG2 ABBA01006038;ABBA01006039;AC005237;AF067137;AF387103;AK026769;AK056516;AK296945;AK302417;AK302561;AL117400;AMYH01011628;BC020054;BC043495;BC050565;BC063585;CH471063;CR749231;D50925;DA104684;NM_001252119;NM_001252120;NM_001252122;NM_001252124;NM_015148;U79240 AAB50198;AAC23506;AAH43495;AAH50565;AAH63585;AAK69752;BAA09484;BAH12460;BAH13702;BAH13743;CAB55901;CAH18087;EAW71236;EAW71237;EAW71238;EAW71239;EAW71240;EAW71241;EAW71242;NP_001239048;NP_001239049;NP_001239051;NP_001239053;NP_055963;Q96RG2 Hs.397891 1649218;1690200;1728493;2151874;2219458;5022578 D1S1423;G42011;G63684;PASK__5828;RH25358;SHGC-30587 DKFZp434O051;DKFZp686P2031;KIAA0135;PASKIN;STK37 OTTHUMP00000164573;OTTHUMP00000200460;OTTHUMP00000200461;OTTHUMP00000200462;PAS domain-containing serine/threonine-protein kinase;PAS-kinase;PAS-serine/threonine kinase;hPASK;per-arnt-sim (PAS) domain kinase APPROVED protein-coding ENSG00000115687 17270 06328 607505 REVIEWED 2303478 PATL2 protein associated with topoisomerase II homolog 2 (yeast) 15 15 15 q21.1 21847682 21858837 - 42745225 42756308 - 44957930 44969086 - 17936923;12477932 197135 C9JE40;H0YMQ2;H0YMS5;H0YN77;H0YNY1 ABBA01039198;AC009996;AC025270;AMYH01006612;AW138454;BC036924;BI835136;BI909158;DN831868;DR007980;NM_001145112 C9JE40;NP_001138584 Hs.11594 2130271 WI-11756 Pat1a;hPat1a PAT1-like protein 2;protein PAT1 homolog 2;protein PAT1 homolog a;protein associated with topoisomerase II homolog 2 protein-coding ENSG00000229474 33630 614661 VALIDATED 1352156 PAX5 paired box 5 This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 9 9 p13 36828531 37024476 - 36838531 37034476 - 1580863;6480464 8650231;8431641;7981748;1516825;10524629;10524622;19145202;19139719;19020546;18957548;18829564;18643853;18617575;18604731;18415655;18343782;18192112;17717600;17682124;17635241;17626071;17535098;17529924;17476282;17431414;17102626;17050077;16680144;16541139;16518692;15492262;15385562;14594818;12731041;12612069;12609061;12524387;12453881;12221090;12153506;12054881;11877292;11799127;11781241;11779502;11460166;11134340;10811620;10748034;10533313;10455134;10197586;10022910;9742255;9486401;8943844;22105368;21424034;18718064;19368954;19549820;19586940;19587702;19616560;19641453;19725825;20023257;20118907;20160164;20233627;20379614;20435627;20882442;20197384;21043826;20534699;21552207;20972455;21319196;21156323;21217775;21357426;21606506;21549623;21710692;21299464;21480862;21962897;21813177;22127921;23163626;22927250;21765475;22309891;22449649;22578776;22013104;22593617;23090680;23321250;17344859;21707507;23329999 5079 C0KTE2;C0KTF6;C0KTF7;C0KTF8;C0KTF9;C0KTG0;E7EQT0;E7ERK2;E7ERW5;E7ES87;H0YB47;Q6S730 ABBA01050409;ABBA01050410;AF074913;AF080573;AF268279;AF386790;AF386791;AL161781;AL450267;AMYH01019352;AY463952;AY463953;AY463954;AY463955;AY463956;AY463957;CH471071;EF064717;FJ626406;FJ626407;FJ626408;FJ626409;FJ626410;FJ626411;FJ626412;FJ626413;FJ626414;FJ626415;FJ626416;FJ626417;FJ626419;FJ626420;FJ626421;FJ626422;FJ626423;FJ626424;FJ626425;M96944;NM_001280547;NM_001280548;NM_001280549;NM_001280550;NM_001280551;NM_001280552;NM_001280553;NM_001280554;NM_001280555;NM_001280556;NM_016734;NR_103999;NR_104000;U56835;U56836;U62539 AAA58397;AAB09533;AAB16832;AAB16833;AAC35286;AAC69188;AAI56190;AAI56928;AAK25737;AAK70869;AAK70870;AAR27590;AAR27591;AAR27592;AAR27593;AAR27594;AAR27595;ABK41900;ACM91589;ACM91590;ACM91591;ACM91592;ACM91593;ACM91594;ACM91595;ACM91596;ACM91597;ACM91598;ACM91599;ACM91600;ACM91602;ACM91603;ACM91604;ACM91605;ACM91606;ACM91607;ACM91608;EAW58294;EAW58295;EAW58296;EAW58297;EAW58298;EAW58299;NP_001267476;NP_001267477;NP_001267478;NP_001267479;NP_001267480;NP_001267481;NP_001267482;NP_001267483;NP_001267484;NP_001267485;NP_057953;Q02548 Hs.654464 1340445;1743773;1786956;1791958;1796454;2117336;2137917 D9S1968;D9S772;GDB:373099;PAX5_1027;PMC133916P3;SHGC-143721;STS-M96944 BSAP B cell specific activator protein;B-cell lineage specific activator;B-cell-specific transcription factor;OTTHUMP00000021378;OTTHUMP00000227118;OTTHUMP00000227119;OTTHUMP00000227120;OTTHUMP00000227121;OTTHUMP00000227122;OTTHUMP00000227123;OTTHUMP00000227124;OTTHUMP00000227125;OTTHUMP00000227127;OTTHUMP00000227128;OTTHUMP00000227129;paired box homeotic gene 5;paired box protein Pax-5;paired domain gene 5;transcription factor PAX 5 APPROVED protein-coding 8619 01334 167414 REVIEWED 1606423 PATL1 protein associated with topoisomerase II homolog 1 (yeast) 11 11 11 q12.1 56766936 56799259 - 59160770 59182994 - 59404189 59436511 - 6480464 17936923;16381901;15489336;15302935;14702039;12477932;11230166;11076863;20543818;20584987;20826699;20852261;21832049;22939629;18029348;20360068;21139048;22090346;19322201;22437941 219988 Q86TB9 AB065087;ABBA01021505;AK094193;AK127649;AK127943;AK293213;AL831992;AMYH01003661;AP000442;AP000640;BC023255;BC048309;BC065264;BC109038;BC109039;BC111047;CH471076;DC409866;NM_152716 AAH65264;AAI09039;AAI09040;AAI11048;BAB93524;BAC04305;BAG54542;BAG54601;BAH11469;CAD89916;CAL37837;EAW73850;EAW73851;NP_689929;Q86TB9 Hs.591960 1674399;1675581;1698590;1732237;2142366 D11S1810;RH102847;RH91886;STS-AA019553;WI-14640 FLJ36874;MGC125671;MGC125672;Pat1b;hPat1b OTTHUMP00000235907;PAT1-like protein 1;protein PAT1 homolog 1;protein PAT1 homolog b protein-coding ENSG00000166889 26721 08214 614660 VALIDATED 1350216 PAX1 paired box 1 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012] 20 20 p11.2 21634297 21644620 + 21686297 21699124 + 1580863;6480464 9671740;19080705;18849994;18849991;17764081;16207213;15489334;12833407;12774041;12504088;12477932;11780052;11423130;8863157;7981748;7909508;2501086;1358810;19453261;20442585;22693459 5075 P15863 ABBA01054108;ABBA01054109;AI167631;AK303335;AL035562;AMYH01011772;AY740018;BC069134;BC143791;BC143793;CH471133;NM_001257096;NM_006192;X15044 AAH69134;AAU21037;BAG64398;CAA33146;EAX10180;NP_001244025;NP_006183;P15863 Hs.122310 1698612;1728951 D10Bir5;RH102861 HUP48 OTTHUMP00000030407;OTTHUMP00000206906;paired box gene 1;paired box protein Pax-1;paired domain gene HuP48 APPROVED protein-coding 8615 01332 167411 REVIEWED 1318048 PATZ1 POZ (BTB) and AT hook containing zinc finger 1 The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008] 22 22 q12.2 30051790 30072249 - 31721790 31742249 - 1580863;6480464 10949935;10713105;18401526;18241078;15489334;15461802;14702039;12477932;11751862;11744704;11719514;10669750;10591208;9847074;20677143;20026299;22052190;22493480 23598 Q9HBE1;Q9HD72 AB208787;ABBA01055327;AC005003;AF119256;AF242522;AF254082;AF254083;AF254084;AF254085;AK123441;AK291803;AL096880;AMYH01012714;AMYH01012715;AY028384;BC021091;BC051357;CH471095;CR456613;NM_014323;NM_032050;NM_032051;NM_032052 AAF01349;AAF32518;AAF99602;AAG09031;AAG09032;AAG09033;AAG09034;AAH21091;AAK19024;BAD92024;BAF84492;CAB51404;CAG30499;EAW59965;EAW59966;EAW59967;EAW59968;EAW59969;EAW59970;EAW59971;NP_055138;NP_114439;NP_114440;NP_114441;Q9HBE1 Hs.731398 1660780;1683872;2114592;2218672 HSC2NE092;RH26916;RH78526;ZNF278__4804 MAZR;PATZ;RIAZ;ZBTB19;ZNF278;ZSG;dJ400N23 BTB-POZ domain zinc finger transcription factor;BTB/POZ domain zinc finger transcription factor;MAZ-related factor;OTTHUMP00000199494;OTTHUMP00000199495;OTTHUMP00000199496;OTTHUMP00000199497;POZ-, AT hook-, and zinc finger-containing protein 1;POZ-AT hook-zinc finger protein;protein kinase A RI subunit alpha-associated protein;zinc finger and BTB domain-containing protein 19;zinc finger protein 278;zinc finger sarcoma gene protein APPROVED protein-coding ENSG00000100105 13071 05522 605165 REVIEWED 69120 PAWR PRKC, apoptosis, WT1, regulator The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. [provided by RefSeq, Jul 2008] 12 12 q21 78509876 78608921 - 79985745 80084790 - 6480464;6484113 11278808;15671026;8943350;11585763;18029348;19632185;19470463;19250735;18991852;18951430;18922975;18836307;18676842;18660514;18650932;18506731;18281137;18085546;18041764;17893871;17883592;17881119;17332319;16969273;16966277;16720717;16382046;16369487;15831492;15657440;15489334;15359646;15316756;15246161;15146197;15090548;14755681;14627703;13680279;12897127;12717420;12685825;12644474;12565819;12477932;12242017;11910304;11755531;10393834;9790775;9701251;8889548;8797824;12917339;22863883;20637369;10602480;11382383;16169070;16229834;19801652;19823030;20082875;20127709;20368356;20468064;19099901;20433755;20514395;20067857;20724592;21567071;21526495;21555373;20360068;21139048;21890473;21764283;21328340;22184067;20473970;20561531;22532571;23204231;15001356;16051151 5074 F8W1M8;H0YHP5;H0YI16;Q96IZ0 ABBA01053502;ABBA01053503;ABBA01053504;ABBA01053505;AC027288;AC073569;AC073595;AF503628;AMYH01004610;AY300794;BC007018;CA313080;CH471054;CN280333;CR536549;NM_002583;U63809 AAC24947;AAH07018;AAM27453;AAP43693;CAG38786;EAW97346;EAW97347;EAW97348;EAW97349;NP_002574;Q96IZ0 Hs.643130 1644945;2138234 RH65933;SGC34094 PAR4;Par-4 OTTHUMP00000242764;PRKC apoptosis WT1 regulator protein;WT1-interacting protein;prostate apoptosis response 4 protein;prostate apoptosis response protein 4;prostate apoptosis response protein PAR-4;prostate apoptosis response-4;transcriptional repressor PAR4 APPROVED protein-coding 8614 09051 601936 REVIEWED 1351352 PAX3 paired box 3 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008] 2 2 q35 222772851 222871944 - 223064606 223163715 - 1580942;1580943;1580944;1599944;1580863;6480464;7240710 15616818;12949970;15313887;8589691 21997191;11029584;17474147;9500554;10871843;8447316;19453261;19320733;19199574;19142206;19095803;19026785;18988640;18483260;18335505;18327212;18325909;18053811;18022385;17986608;17954266;17704541;17638879;17627390;17613043;17525748;17490646;17285543;17187370;17149730;16971891;16964289;16952014;16951257;16951170;16945326;16582099;16442263;16316407;15688409;15688035;15602708;15184910;15143176;15140004;14639621;12739027;12668617;12666593;12647804;12477932;12107410;12039929;11997098;11735247;11683776;11423130;11244500;10942418;10779847;10610023;10529415;10521655;10393185;10191090;9584079;9546061;9541113;9067759;8863157;8845842;8664898;8533800;8490648;8423616;8322830;8275086;8221646;8098985;7981674;7897628;7862145;7833953;7825605;7782066;7726174;7545913;7091186;6859126;2785681;2609099;2501086;1552554;1536170;1349198;1347149;1347148;1308353;1303193;17662948;10359315;22454413;20067553;15729346;16300735;16344560;18666806;18788887;19726320;19893043;19953635;20032463;20351326;20605921;20478267;19913121;20628086;20634891;11863357;16787918;20664692;20801516;20301703;21135695;22231626;20421967;21177767;20569257;21421465;21440083;21423212;21802410;21965087;21145483;22988297;22089931;22330340;22679108;22341974;22197543;23079386;23020925;23274166 5077 G3V2Y0;G3V5C0;Q86UQ3 ABBA01023816;AC010980;AC012591;AF156931;AI382779;AI399816;AJ007392;AK291278;AMYH01011515;AY251279;AY251280;BC063547;BC101299;BC101300;BC101301;BC101302;BC114363;CA389778;CH471063;DA758804;DN989642;L07483;L10614;NG_011632;NM_000438;NM_001127366;NM_013942;NM_181457;NM_181458;NM_181459;NM_181460;NM_181461;S61511;S69369;S69370;S83614;U02309;U12258;U12259;U12260;U12261;U12262;U12263;X15043;X15253 AAA03628;AAA80573;AAA80574;AAA91849;AAB21476;AAB26807;AAB30167;AAB30168;AAH63547;AAI01300;AAI01301;AAI01302;AAI01303;AAI14364;AAP13872;AAP13873;AAY14900;ABZ92174;BAF83967;CAA33145;EAW70789;EAW70790;EAW70791;EAW70792;EAW70793;EAW70794;EAW70795;EAW70796;EAW70797;NP_000429;NP_001120838;NP_039230;NP_852122;NP_852123;NP_852124;NP_852125;NP_852126;P23760 Hs.42146 1334807;1654165;1688160;1719145;1741981;1744535;1745265;1745373;1745375;1797944;1856755;2183190;5125323;5494195 AFMA288WG9;D16Bir10;D2S2197;D2S2599;D3S4187;GDB:187424;GDB:512330;GDB:596326;GDB:603632;GDB:603639;PAX3_1834;RH123290;RH45698;RH92856 CDHS;HUP2;MGC120381;MGC120382;MGC120383;MGC120384;MGC134778;WS1;WS3 OTTHUMP00000164207;OTTHUMP00000164208;OTTHUMP00000164209;OTTHUMP00000202744;OTTHUMP00000202745;OTTHUMP00000202746;OTTHUMP00000205137;OTTHUMP00000224703;paired box homeotic gene 3;paired box protein Pax-3;paired domain gene 3;paired domain gene HuP2 APPROVED protein-coding ENSG00000135903 8617 09421 122880;148820;193500;268220;606597 REVIEWED 1347682 PAX4 paired box 4 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008] 7 7 q32 127037582 127043016 - 127250346 127255780 - 1580863;2311633;2311632;2311634;2311635;6480464;6907045;7240710 15834548;17426099;15509590;12604352 9480859;19228875;19056482;18949370;18617287;18335054;17989064;17717051;17633464;16911636;16701883;16546275;16423628;16123375;15838687;15650323;15596543;15489334;15161765;12829700;12690205;12477932;12200761;11723072;11263967;10967107;9753306;9598721;9439631;8431641;8287686;7981748;21059099;21263211;18029348;19578796;19641380;19956100;20360641;20485196;22521316;23532257;22158537 5078 G3V4Q1;J3KPG0;O43316 AACC02000001;AB008913;ABBA01057684;AC000359;AC073934;AF043978;AMYH01017911;BC074761;BC107149;BC107150;CH236947;CH471070;DQ442656;NG_012848;NM_006193 AAD02289;AAH74761;AAI07150;AAI07151;ABD97848;ABZ92175;BAA24506;EAL24318;EAW83633;EAW83634;NP_006184;O43316 Hs.129706 1671193;1744467;1796452 GDB:455259;PAX4;PAX4__1198 KPD;MGC129960;MODY9 OTTHUMP00000212279;OTTHUMP00000212280;OTTHUMP00000245007;paired box gene 4;paired box protein Pax-4;paired domain gene 4 APPROVED protein-coding ENSG00000106331 8618 01333 125853;167413;612225;612227 REVIEWED 1604064 PAX7 paired box 7 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 p36.13 18830087 18935219 + 18957500 19075360 + 6480464;7240710 17474147;9339373;10871843;19142206;17954266;17613043;16830101;16710414;15688409;15527970;15184910;14702039;12865925;12647804;12477932;12234688;12039929;11601392;9731536;8789435;8431641;8104868;8012384;7981748;7902328;7527137;2501086;20333749;17285543;17662948;18788887;18988640;19097049;19453261;20351326;20677014;18066051;21321994;21421465;21954137;22089931;22197543;22374423;20467438;23079386;22863734;22952603;23247248 5081 P23759 ABBA01059738;ABBA01059739;ABBA01059740;ABBA01059741;ABBA01059742;AJ130875;AK094779;AL021528;AMYH01000308;AMYH01000309;AMYH01000310;AY578141;BC121165;BC121166;CH471134;DB474828;DQ322591;NG_023262;NM_001135254;NM_002584;NM_013945;X15042;X15251;X96743;X96744;X96745;X96746;X96747;X96748;Z35141;Z64432 AAI21166;AAI21167;ABC48797;CAA65520;CAA65521;CAA65522;CAA84513;EAW94853;EAW94854;EAW94855;EAW94856;NP_001128726;NP_002575;NP_039236;P23759 Hs.113253 1338577;1693222;1712530;1732916;1732994;1733170;1750073;2217694;5023438 AL033566;AU046703;D1S1324;D1S1368;D1S1473;D1S2644;PAX7_3049;SHGC-112329;SHGC-74310 FLJ37460;HUP1;PAX7B;RMS2 OTTHUMP00000002534;OTTHUMP00000223484;OTTHUMP00000223485;PAX7 transcriptional factor;paired box gene 7;paired box homeotic gene 7;paired box protein Pax-7;paired domain gene 7 APPROVED protein-coding ENSG00000009709 8621 01331 167410;268220 REVIEWED 737459 PAX6 paired box 6 This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 11 11 p13 31767034 31789455 - 31806340 31839509 - 1358554;1601209;1601210;1601211;1580863;6480464;6907045;7240710 10376119;9138149;10441571;12721955 16098226;10747901;19607881;19414065;19218613;19142206;19124844;19034419;18973570;18776953;18766996;18754095;18616618;18595732;18593849;18467663;18440259;18421978;18393239;18334930;18332330;18273794;18243151;18241071;18070176;17948041;17947347;17908181;17901057;17898260;17896318;17893655;17679951;17653045;17595013;17568989;17485622;17417613;17318412;17202185;17148041;17031679;16873704;16803629;16785853;16712695;16637659;16604056;16582099;16543198;16511221;16407227;16344560;16303743;16115881;15918896;15889018;15757974;15735909;15677484;15659382;15629294;15489334;15389894;15143176;15086958;15079031;15066147;14872040;14702039;12953159;12923055;12868034;12789139;12731001;22509105;22393272;22393275;21421876;12710953;12552561;12477932;12325030;12324464;12107413;12107410;12043047;11850181;11358870;11350962;11309364;11069920;11036080;10955655;10610023;10506141;10359315;10346815;10234503;9931324;9856761;9792406;9538891;9482572;9281415;9147640;9056723;8889548;8640214;8364574;8162071;8111379;7958875;7951315;7909985;7757816;7698003;7668281;7666404;7550230;7065945;1684738;1345175;1302030;16189514;20396773;21321669;21353197;16675956;17291498;17982423;19650334;19651775;19686589;19790232;19806578;19806579;19862335;19898691;19907666;19917615;19948975;20054790;20074565;20360993;20379614;18029348;20713004;20801516;19793656;17415970;20523026;20621053;20308539;20664694;20806047;20577777;20592023;20301534;21092858;22621390;11756345;21271670;20413449;21397818;17251190;23044950;22550392;21697133;21169528;21524647;21589860;21655361;21348901;21633710;21710692;21850189;21944253;21816254;21948554;21084637;21617155;22447870;21691140;21935435;22103961;22146551;23146210;23213273;22171686;21904390;22025896;21997878;21985185;22171157;22344219;21922321;22361317;22392277;22583899;20301552;22561546;22809227;20467438;21988832;22893676;22815628 5080 B1B1I8;B1B1I9;B1B1J0;E9PIX4;E9PKM0;E9PRP9;E9PS79;F1T0F8;G3V2B2;G3V2C7;G3V3Q9;G3V4M3;G3V4N4;G3V567;G3V5W7;P26367;Q66SS1 AB209177;AB593092;AB593093;AB593094;ABBA01060920;ABBA01060921;ABBA01060922;AF548390;AK074881;AK094172;AK094249;AK314470;AMYH01003477;AY047583;AY307164;AY337852;AY707088;BC011953;BE221553;BI789171;BI816814;BM313099;BM557761;BM725029;BP394398;BP394576;BU072567;BX089704;BX114225;BX440968;BX640762;CA397536;CD673930;CH471064;CV569250;DA078958;DA079367;DA141443;DA183294;DQ251039;F07809;GQ141695;M77844;M93650;NG_008679;NM_000280;NM_001127612;NM_001258462;NM_001258463;NM_001258464;NM_001258465;NM_001604;S70304;S70305;S70307;Z83307;Z95332 AAA36416;AAA59962;AAB30690;AAB30691;AAB30692;AAH11953;AAK95849;AAN86817;AAP74576;AAR10412;AAU12168;ABB55263;ABM82362;ABM85538;ACZ28705;BAD92414;BAG52023;BAJ84032;BAJ84033;BAJ84034;CAE45868;EAW68233;EAW68234;EAW68235;EAW68236;NP_000271;NP_001121084;NP_001245391;NP_001245392;NP_001245393;NP_001245394;NP_001595;P26367 Hs.270303;Hs.611376 1715277;1742495;1742921;1743423;1743575;1743577;2106921;2118965;2123829;5024573;5113095;5494193 D12Bir2;GDB:197570;GDB:215731;GDB:316221;GDB:344354;GDB:344736;PAX6;RH119890;RH46063;RH78222;RH79881;UniSTS:466070 AN;AN2;D11S812E;MGC17209;MGDA;WAGR OTTHUMP00000038833;OTTHUMP00000038834;OTTHUMP00000038835;OTTHUMP00000038836;OTTHUMP00000038837;OTTHUMP00000038838;OTTHUMP00000038839;OTTHUMP00000038840;OTTHUMP00000245002;OTTHUMP00000245003;aniridia type II protein;oculorhombin;paired box homeotic gene-6;paired box protein Pax-6 APPROVED protein-coding ENSG00000007372 8620 06167 106210;120200;120430;136520;148190;165550;206700;604229;607108 REVIEWED 5128928 PAXBP1-AS1 PAXBP1 antisense RNA 1 21 21 19284083 19299091 + 34100425 34115433 + 14702039;12477932 100506215 ABBA01057320;AK056384;AMYH01012202;AP000279;BC038361;NR_038879;NR_038880 Hs.657123 1730855;1784418;1800246;1802070;1803820;1808012;1811926;1813724;1816538;1819110;1820270;1820472;1820538;1828134;1831636;1833944;1834106;1841862;2022430;2022432;2022434;2022436;2022438;2022440;2022442;2022444;2022446;2022448;2022450;2022452;2022454;2022456;2022458;2022460;2022462;2022464;2022466;2022468;2022470;2022472;2022474;2022476;2022478;2022480;2022482;2022484;2022486;2022488;2022490;2022492;2022494;2022496;2022498;2022500;2022502;2022504;2022506;2022508;2022510;2022512;2022514;2022516;2022518;2022520;2022522;2022524;2022526;2022528;2022530;2022532;2022534;2022536;2022538;2022540;2022542;2022544;2022546;2022548;2022550;2022552;2022554;2022556;2022558;2022560;2022562;2022564;2022566;2022568;2022570;2022572;2022574;2022576;2022578;2022580;2022582;2022584;2100228;2120366;2191553;5014051;5037552 D21S391;D8S2278;D8S2279;ECD00981;ECD01916;ECD02820;ECD04984;ECD06967;ECD07885;ECD09311;ECD10621;ECD11209;ECD11311;ECD11344;ECD15190;ECD16955;ECD18119;ECD18201;ECD22132;MARC_26190-26191:1030722126:1;REN82213;REN82214;REN82215;REN82216;REN82217;REN82218;REN82219;REN82220;REN82221;REN82222;REN82223;REN82224;REN82225;REN82226;REN82227;REN82228;REN82229;REN82230;REN82231;REN82232;REN82233;REN82234;REN82235;REN82236;REN82237;REN82238;REN82239;REN82240;REN82241;REN82242;REN82243;REN82244;REN82245;REN82246;REN82247;REN82248;REN82249;REN82250;REN82251;REN82252;REN82253;REN82254;REN82255;REN82256;REN82257;REN82258;REN82259;REN82260;REN82261;REN82262;REN82263;REN82264;REN82265;REN82266;REN82267;REN82268;REN82269;REN82270;REN82271;REN82272;REN82273;REN82274;REN82275;REN82276;REN82277;REN82278;REN82279;REN82280;REN82281;REN82282;REN82283;REN82284;REN82285;REN82286;REN82287;REN82288;REN82289;REN82290;SHGC-106898;STS-R09480;stSG606624 FLJ31822;GCFC1-AS1 APPROVED miscrna ENSG00000238197 39603 VALIDATED 1343545 PBCRA1 progressive bifocal chorioretinal atrophy 1 7240710 9719369;9691169 7948 1342027;7186757 D6S249;D6S283 8625 1353290 PAXBP1 PAX3 and PAX7 binding protein 1 This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009] 21 21 21 q21.3 19289868 19327826 - 33028081 33066040 - 34106210 34144169 - 6480464 16780588;17081983;16344560;15302935;14702039;12477932;11707072;11042152;10773462;21551269;20494980;20811636;20360068;19471022;21890473;22174317 94104 H7BZC8;H7C2W4;Q8N6E6;Q9Y5B6 ABBA01057320;AF153208;AF208862;AF231920;AJ279080;AJ279081;AK075042;AK093291;AK128513;AK309404;AL706425;AMYH01012202;AMYH01012203;AP000279;AP000280;AY033903;AY033904;AY033905;AY033906;BC005213;BC030539;BC062992;BC084542;CD557070;CH471079;DB031308;NM_013329;NM_016631;NR_027873 AAD34617;AAF64276;AAF72944;AAH30539;AAH84542;AAI56215;AAK68721;AAK68722;AAK68723;AAK68724;ABM82550;ABM85741;BAC11369;BAG52682;BAG54687;CAC40813;CAC40814;EAX09857;EAX09858;EAX09859;EAX09860;EAX09861;NP_037461;NP_057715;Q9Y5B6 Hs.644004 1672400;1772371;1784418;1798398;1799968;1800968;1805708;1808798;1809070;1809306;1809554;1811214;1812566;1812734;1813006;1813078;1813724;1814184;1817544;1818286;1818362;1819110;1819568;1819838;1820270;1822882;1826312;1827032;1827464;1828134;1830282;1831552;1831636;1833944;1834106;1836814;1837758;1840578;1841862;1842864;1842908;1844584;1845746;1845840;2022494;2022496;2022498;2022500;2022502;2022504;2022506;2022508;2022510;2022512;2022514;2022516;2022518;2022520;2022522;2022524;2022526;2022528;2022530;2022532;2022534;2022536;2022538;2022540;2022542;2022544;2022546;2022548;2022550;2022552;2022554;2022556;2022558;2022560;2022562;2022564;2022566;2022568;2022570;2022572;2022574;2022576;2022578;2022580;2022582;2022584;2022586;2022588;2022590;2022592;2022594;2022596;2022598;2022600;2022602;2022604;2022606;2022608;2022610;2022612;2022614;2022616;2022618;2022620;2022622;2022624;2022626;2022628;2022630;2022632;2022634;2022636;2022638;2022640;2022642;2022644;2022646;2022648;2022650;2022652;2022654;2022656;2022658;2022660;2022662;2022664;2022666;2022668;2022670;2022672;2022674;2022676;2022678;2022680;2022682;2022684;2022686;2022688;2022690;2022692;2022694;2022696;2022698;2022700;2022702;2022704;2022706;2022708;2022710;2022712;2022714;2022716;2022718;2022720;2022722;2022724;2022726;2022728;2022730;2022732;2022734;2022736;2022738;2022740;2022742;2022744;2022746;2022748;2022750;2022752;2022754;2022756;2022758;2022760;2022762;2022764;2022766;2022768;2022770;2022772;2022774;2022776;2022778;2022780;2022782;2022784;2022786;2022788;2022790;2022792;2022794;2022796;2022798;2022800;2022802;2022804;2022806;2022808;2022810;2022812;2022814;2022816;2022818;2022820;2022822;2022824;2022826;2022828;2022830;2022832;2022834;2022836;2022838;2022840;2022842;2022844;2100236;2100238;2100240;2100242;2100244;2100246;2100248;2100250;2100252;2100254;2100256;2100258;2100260;2100262;2100264;2100266;2100268;2100270;2100272;2100274;2100276;2100278;2100280;2100282;2100284;2100286;2100288;2100290;2100292;2100294;2100296;2112684;2120366;2126667;2191553 D21S1848;D3S4402;ECD00035;ECD00838;ECD01349;ECD03804;ECD05382;ECD05522;ECD05643;ECD05769;ECD06605;ECD07293;ECD07378;ECD07517;ECD07558;ECD07885;ECD08121;ECD09822;ECD10200;ECD10238;ECD10621;ECD10851;ECD10989;ECD11209;ECD12529;ECD14269;ECD14631;ECD14848;ECD15190;ECD16275;ECD16913;ECD16955;ECD18119;ECD18201;ECD19571;ECD20049;ECD21476;ECD22132;ECD22639;ECD22662;ECD23506;ECD24092;ECD24139;MARC_26190-26191:1030722126:1;REN82245;REN82246;REN82247;REN82248;REN82249;REN82250;REN82251;REN82252;REN82253;REN82254;REN82255;REN82256;REN82257;REN82258;REN82259;REN82260;REN82261;REN82262;REN82263;REN82264;REN82265;REN82266;REN82267;REN82268;REN82269;REN82270;REN82271;REN82272;REN82273;REN82274;REN82275;REN82276;REN82277;REN82278;REN82279;REN82280;REN82281;REN82282;REN82283;REN82284;REN82285;REN82286;REN82287;REN82288;REN82289;REN82290;REN82291;REN82292;REN82293;REN82294;REN82295;REN82296;REN82297;REN82298;REN82299;REN82300;REN82301;REN82302;REN82303;REN82304;REN82305;REN82306;REN82307;REN82308;REN82309;REN82310;REN82311;REN82312;REN82313;REN82314;REN82315;REN82316;REN82317;REN82318;REN82319;REN82320;REN82321;REN82322;REN82323;REN82324;REN82325;REN82326;REN82327;REN82328;REN82329;REN82330;REN82331;REN82332;REN82333;REN82334;REN82335;REN82336;REN82337;REN82338;REN82339;REN82340;REN82341;REN82342;REN82343;REN82344;REN82345;REN82346;REN82347;REN82348;REN82349;REN82350;REN82351;REN82352;REN82353;REN82354;REN82355;REN82356;REN82357;REN82358;REN82359;REN82360;REN82361;REN82362;REN82363;REN82364;REN82365;REN82366;REN82367;REN82368;REN82369;REN82370;REN82371;REN82372;REN82373;REN82374;REN82375;REN82376;REN82377;REN82378;REN82379;REN82380;REN82381;REN82382;REN82383;REN82384;REN82385;REN82386;REN82387;REN82388;REN82389;REN82390;REN82391;REN82392;REN82393;REN82394;REN82395;REN82396;REN82397;REN82398;REN82399;REN82400;REN82401;REN82402;REN82403;REN82404;REN82405;REN82406;REN82407;REN82408;REN82409;REN82410;REN82411;REN82412;REN82413;REN82414;REN82415;REN82416;REN82417;REN82418;REN82419;REN82420;SHGC-106898;SHGC-58185;STS-R09480;UniSTS:494425;stSG606628;stSG606629;stSG606630;stSG606631;stSG606632;stSG606633;stSG606634;stSG606635;stSG606636;stSG606637;stSG606638;stSG606639;stSG606640;stSG606641;stSG606642;stSG606643;stSG606644;stSG606645;stSG606646;stSG606647;stSG606648;stSG606649;stSG606650;stSG606651;stSG606652;stSG606653;stSG606654;stSG606655;stSG606656;stSG606657;stSG606659 BM020;C21orf66;FLJ90561;FSAP105;GCFC;GCFC1 GC-rich sequence DNA-binding factor 1;GC-rich sequence DNA-binding factor candidate;GC-rich sequence DNA-binding factor homolog;OTTHUMP00000067485;OTTHUMP00000197869;OTTHUMP00000210638;PAX3- and PAX7-binding protein 1;functional spliceosome-associated protein 105 APPROVED protein-coding ENSG00000159086 13579 10761 REVIEWED 1353538 PBG1 pancreatic beta cell glycoprotein 1 5084 8627 1352334 PAX9 paired box 9 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. [provided by RefSeq, Jul 2008] 14 14 q13.3 36196533 36216763 + 37126773 37147012 + 1580863;6480464;7240710 17973255;21111400;19279207;19142206;18978678;18701815;18519826;18445003;18353002;18028048;17910065;17697174;17412341;16651263;16479262;16344560;16333316;16247549;16137495;16086281;15615874;15489334;14689302;14607846;14571272;12833407;12786960;12657635;12490878;12477932;12115874;12107448;11941488;11781684;11374781;10899593;10615120;9021154;7981748;17373667;22277187;16191360;18653171;19429910;19453261;19816326;20544801;20485064;20618716;20634891;20211142;20941745;20660504;21434731;21098475;21298044;18029348;21626677;21443745;22446453;21530942;22185249;23227268;22058014;20602873;22976623;19641755;22810112;22747565 5083 G3V233;P55771;Q2L4T1 AB248958;ABBA01061528;AJ238381;AJ238382;AJ238383;AK310339;AK313627;AL079303;AMYH01005674;AW293964;AY338688;BC001159;CH471078;DA667732;DB196800;DB233208;HM214049;HM214050;HM214053;HM214058;HM214064;HM214066;HM214076;HM214078;HM214083;HM214084;HM214086;HM214098;HM214105;HM214112;HM214113;HM214115;HM214117;L09745;NG_013357;NM_006194;U59628;X92850 AAD09487;AAH01159;AAQ16120;ABW03512;ABW03825;ADR64982;ADR64983;ADR64986;ADR64991;ADR64997;ADR64999;ADR65009;ADR65011;ADR65016;ADR65017;ADR65019;ADR65031;ADR65038;ADR65045;ADR65046;ADR65048;ADR65050;BAE79273;BAG36387;CAA63436;CAB41533;EAW65853;NP_006185;P55771 Hs.132576;Hs.609574 1728951 D10Bir5 STHAG3 OTTHUMP00000178877;paired box protein Pax-9;paired domain gene 9 APPROVED protein-coding ENSG00000198807 8623 01336 167416;604625 REVIEWED 7248133 PAXIP1-AS1 PAXIP1 antisense RNA 1 (head to head) 12477932 202781 AACC02000116;ABBA01015992;AC093726;AI075258;AK098428;AL713756;AMYH01018179;BC035068;BC048116;BI438440;BI545940;CH236962;NG_023293;NR_028090 Hs.193172 miscrna 27328 VALIDATED 1353155 PBM1 pre-B-cell monocytic leukemia partner 1 5085 8629 1316804 PAXIP1 PAX interacting (with transcription-activation domain) protein 1 This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008] 7 7 q36 154366333 154425615 - 154735400 154794682 - 6480464 19124460;18353733;17690115;17500065;15456759;14702039;14576432;12588986;12477932;11940591;10908331;9847074;9225980;16189514;22064073;17761849;19414588;19583951;20379614;15231748;17178841;17925232;19047629;16159877;20670891;20516061;21163940;22939629;22990118;22242598;19322201;20301340;22736030 22976 F8WC23;H7BZI8;Q6ZW49 AACC02000116;ABBA01015993;AC093726;AK093584;AK123044;AK123600;AK126674;AK293744;AK307417;AMYH01018179;BC008328;BC033781;BQ222021;BX538201;BX640616;CH236962;CH471149;CR993144;NG_023293;NM_007349;U80735 AAB91434;AAH08328;AAH33781;AAP21865;BAC85523;BAC85657;BAG54355;BAG57167;CAD98066;CAE45762;EAX04524;EAX04525;NP_031375;Q6ZW49 Hs.443881 1653652;1663414;1666887;1670590;1697062;1700802;1722583;1768205;1857807;2114449;2158456;2162674;2175958;2219460;5022651;5122886 AFMB058WE5;D11S2921;D7S2896;G15998;G19213;G60373;GDB:1317416;PAXIP1L__5830;RH102010;RH104026;RH45010;RH48948;SHGC-36464;SHGC-52442;STS-N51347;WI-18169 CAGF28;CAGF29;FLJ41049;PACIP1;PAXIP1L;PTIP;TNRC2 OTTHUMP00000199835;PAX transactivation activation domain-interacting protein;PAX transcription activation domain interacting protein 1 like;PAX-interacting protein 1;protein encoded by CAG trinucleotide repeats APPROVED protein-coding ENSG00000157212 8624 08491 608254 REVIEWED 1343781 PBT piebald trait 7240710 5086 8631 154800;172800;273300;601626;606764 730849 PAX8 paired box 8 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] 2 2 q13 113690045 113752968 - 113973574 114036498 - 1580863;1600298;6480464;6907045;7240710 9590296 16763387;21328566;21606823;22797727;10377248;18976153;18974227;18829450;18768662;18724243;18670350;18632625;18084247;17614769;17468187;17437516;17064757;16814811;16613988;16352687;16344560;16219715;16179407;16029487;15961562;15718293;15489334;15362967;15356023;15355349;15062550;14970209;14702039;14623893;14531730;12970322;12727991;12699588;12519876;12477932;12441357;12161538;11923479;11502839;11232006;11134340;10924503;9590297;9388203;8889548;8431641;8413205;8125298;7981748;7737192;1337742;20492080;20634891;20572292;20667985;20463571;17980011;19010321;19525927;19730683;19797117;19963130;20157192;20379614;20414099;8861958;20470391;20513481;18029348;20211142;20857061;20302910;15494458;7856737;20718765;21263247;21289264;22705448;22495365;22666732;22898500;21552115;21763631;21934480;22961909;21836478;21836481;23194047;21317881;21989345;20607683;21979593;21602887;21663937;20851479;21689132;21932072;22261458;20195357;21988832;23163626;23202787;22037256;21838611;22135028;22388755;23436219;22293317;22644304;22807381 7849 G3V3F3;G3V463;H0YJD1;H0YJZ5;Q06710 ABBA01074238;ABBA01074239;ABBA01074240;ABBA01074241;AC016683;AK023855;AK225538;AK292191;AK307173;AK309154;AMYH01010967;AU141429;BC001060;BG398792;BM726535;CH471217;CR936798;FJ695202;KC733810;L19606;NG_012384;NM_003466;NM_013952;NM_013953;NM_013992;S77904;S77905;S77906;X69699;X99590 AAA03539;AAB34216;AAB34217;AAB34218;AAH01060;AAX88880;ABM83206;ABM86406;AGN95866;BAF84880;CAA67903;EAW73629;EAW73630;EAW73631;EAW73632;EAW73633;EAW73634;EAW73635;EAW73636;EAW73637;EAW73638;EAW73639;NP_003457;NP_039246;NP_039247;NP_054698;Q06710 Hs.469728 1669197;1677999;1685195;1728957;1734848;1796456;2122160;2126518;2177896;2181823 D11Bir2;D2S1597E;D2S1963;PAX8__1200;RH45733;RH79182;RH80705;RH94024;SHGC-52928;WI-19770 OTTHUMP00000158659;OTTHUMP00000158660;OTTHUMP00000203723;OTTHUMP00000203724;paired box protein Pax-8;paired domain gene 8 APPROVED protein-coding ENSG00000125618 8622 01335 167415;218700 REVIEWED 1344013 PBDC1 polysaccharide biosynthesis domain containing 1 X X X q13.3 75672493 75677756 + 75309173 75314436 + 75392771 75398033 + 737633;6480464 12477932 18029348;15790807;15489334;21145461;11042152;16169070;17207965;19615732;22863883;21139048 51260 A6NDF3;Q9BVG4 ABBA01059364;AC004677;AC233281;AMYH01022623;AY927616;BC001220;BC051894;CH471104;CS072317;NM_016500 AAH01220;AAH51894;ADQ32506;CAI93455;EAW98621;EAW98622;EAW98623;EAW98624;NP_057584;Q9BVG4 Hs.370100 CXorf26;MGC874 2610029G23Rik;OTTHUMP00000023585;OTTHUMP00000023586;UPF0368 protein Cxorf26;hypothetical protein LOC51260;polysaccharide biosynthesis domain-containing protein 1;protein PBDC1 APPROVED protein-coding ENSG00000102390 28790 06659 PROVISIONAL 7247750 PAXIP1-AS2 PAXIP1 antisense RNA 2 12477932;14702039 100132707 AACC02000116;ABBA01015993;AC093726;AK056609;AK311721;AMYH01018179;BC033053;BC050402;CA309060;CH236962;CH471149;N46174;NR_024476;NR_024477 EAX04523 Hs.586358 miscrna ENSG00000214106 48958 VALIDATED 1349399 PBX2P1 pre-B-cell leukemia homeobox 2 pseudogene 1 3 3 3 q24 141318300 141321491 + 144377494 144380895 + 142894904 142898095 + 7835890;7759099;1682799 5088 ABBA01059015;AC018450;AMYH01013552;NG_002434 1683966;1745455;1745457;1745459;2160329;2218580 D3S4540;GDB:607721;GDB:607725;GDB:607728;PBX2_2038;RH46823 PBX2;PBXP1 pseudo 8635 INFERRED 1346457 PBOV1 prostate and breast cancer overexpressed 1 This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011] 6 6 6 q23.3 139277240 139279744 - 138578816 138581320 - 138537123 138539627 - 1580863 17656261;15489334;14574404;12553037;12477932;11156405;19714462 59351 Q9GZY1 ABBA01025810;AF189269;AF189270;AL031433;AMYH01016702;BC069109;CH471051;NG_029816;NM_021635 AAG17117;AAG17118;AAH69109;EAW47919;NP_067648;Q9GZY1 Hs.302016 5015861;5024756;5493971;7185938 D10S16;RH80030;UniSTS:480588 UC28;UROC28;dJ171N11.2 OTTHUMP00000234869;prostate and breast cancer overexpressed 1;prostate and breast cancer overexpressed gene 1 protein APPROVED protein-coding ENSG00000254440 21079 16137 605669 REVIEWED 1606247 PBLD phenazine biosynthesis-like protein domain containing 10 10 10 q21.3 63317016 63367286 - 69712423 69762690 - 70042417 70092684 - 6480464 16189514;15806103;15489334;14702039;12477932;11355021;1286669;16712791;20395239;20548946;16385451;19850743 64081 C9JIM0;F8W7D0;P30039 AB049758;ABBA01019558;ABBA01019559;ABBA01019560;ABBA01019561;ABBA01019562;AC016395;AI114748;AI439144;AK027673;AK092826;AK312275;AMYH01002800;BC009738;CB121561;CH471083;NM_001033083;NM_022129 AAH09738;BAB16606;BAB55285;BAC03986;BAG35205;EAW54273;EAW54274;EAW54275;EAW54276;EAW54277;EAW54278;NP_001028255;NP_071412;P30039 Hs.198158 1339903;1667705;1680300;2162765;5022578;7186981 D10S210;D1S1423;RH46131;RH80429;WI-11387 FLJ14767;FLJ35507;MAWBP;MAWDBP MAWD binding protein;MAWD-binding protein;OTTHUMP00000019698;OTTHUMP00000082489;phenazine biosynthesis-like domain-containing protein protein-coding ENSG00000108187 23301 14366 612189 VALIDATED 1605656 PBRM1 polybromo 1 This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] 3 3 p21 52554423 52694892 - 52579368 52719866 - 6480464;6907133;6907137 22035299;21654818 22573740;11078522;12368262;15985610;18339845;18191465;17320048;17081983;16964243;16344560;16094384;15735765;14702039;12672490;12487023;12477932;11780067;11483580;8889549;11591653;21604427;20081856;20379614;20368734;19454010;21248752;20660729;19650111;21037240;21832049;22939629;22949125;23022380;23333114;19596686;20130577;20360068;19471022;20305087;21139048;21549307;21693764;21890473;21906983;21926972;22479202;21252943;16934469;21628590;22763110;22586326;15231748;22751105;23000965;23092984;22140357;22505724 55193 C9J053;C9J409;C9J9L6;C9JCJ2;C9JPI5;C9JQF1;E7EVG2;H0Y5B5;Q9H2T4 AA047886;ABBA01024500;ABBA01024501;ABBA01024502;ABBA01024503;ABBA01024504;ABBA01024505;AC104446;AC112215;AF177387;AF197569;AF225870;AF225871;AF225872;AK001507;AK001926;AK056541;AL050083;AMYH01013186;AMYH01013187;AMYH01013188;AY281068;BC015323;BC070273;BC089409;BC115009;BC115010;BC115011;BC116450;BC129934;BC129935;BE672944;BG778619;BU171600;BU619411;CA438315;CH471055;CV573455;DA039085;NG_032108;NM_018313 AAG34760;AAG48933;AAG48939;AAG48940;AAG48941;AAH15323;AAH70273;AAH89409;AAI15010;AAI15011;AAI15012;AAI29935;AAI29936;AAP34197;BAA91728;BAA91982;BAB71210;EAW65239;EAW65240;EAW65241;EAW65242;EAW65243;EAW65244;EAW65245;EAW65246;EAW65247;EAW65248;NP_060783;Q86U86 Hs.189920 1655743;1684204;1699040;1700938;1721959;1760795;1771317;1850400;2114575;2117970;2119591;2123090;2142998;2143000;2170012;2174085;2186647;5015961;5016478;5019825;5022322;5022425;5037552;5109281 A009Y43;D11S2560;D15S1477;D1S1425;D22S296;D3S3129;D3S3148;D3S3494;D3S4210;D8S2279;G06257;G32996;G59865;GDB:434012;HSC07B112;RH103093;RH104096;RH16658;RH46499;RH92627;SHGC-144314;STS-H79538;STS-N26209;WI-17173 BAF180;MGC156155;MGC156156;PB1 BRG1-associated factor 180;OTTHUMP00000202147;OTTHUMP00000202148;OTTHUMP00000202149;OTTHUMP00000202150;OTTHUMP00000202151;OTTHUMP00000202152;OTTHUMP00000202153;OTTHUMP00000202154;OTTHUMP00000202155;OTTHUMP00000202163;hPB1;polybromo-1D;protein polybromo-1 APPROVED protein-coding ENSG00000163939 30064 606083 REVIEWED 1351038 PBK PDZ binding kinase This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 p21.2 27723057 27751268 - 27667138 27695349 - 1580863;6480464 10779557;18519826;17631144;17545598;17482142;17081983;16291951;16189514;16169070;15761153;15541388;15489334;14757441;14702039;12620389;12477932;11783945;11378444;10781613;15729360;15782160;22087225;22889411;22623531;19900192;19954816;20379614;17145805;20622899;20647304;20589935;23250755;22939629;21715333;22192142;21139048;21890473;23455922;21963094;23000965;23237560;22505724 55872 B4DX68;E5RFX4;E5RIE1;Q96KB5 AB027249;AB027250;ABBA01005593;AC104997;AF189722;AF237709;AK027291;AK301836;AMYH01018599;BC015191;BI461026;CH471080;NM_018492 AAF69107;AAF71521;AAH15191;ABM84068;ABM87426;BAA99576;BAA99577;BAB55019;BAG63280;EAW63536;EAW63537;NP_060962;Q96KB5 Hs.104741 1686388;1704366 RH93231;SHGC-78182 CT84;FLJ14385;Nori-3;SPK;TOPK MAPKK-like protein kinase;OTTHUMP00000128310;OTTHUMP00000225324;PDZ-binding kinase;T-LAK cell-originated protein kinase;cancer/testis antigen 84;lymphokine-activated killer T-cell-originated protein kinase;serine/threonine protein kinase;spermatogenesis-related protein kinase APPROVED protein-coding ENSG00000168078 18282 17822 611210 REVIEWED 1347053 PCA3 prostate cancer antigen 3 (non-protein coding) 9 9 q21.2 79379354 79402465 + 79379354 79402465 + 20947244;20980098;19319183;18707724;18684556;18602209;18061575;15067329;14607216;12814669;12680228;10606244;20424427;20637539;20114043;19424173;19489685;19708043;19760627;20332487;21093148;22868485;22674214;22782916;20933321;21655300;22245323;22199313;21883822;22042252;21761426;22288776;23213079;22967466;23223645;23523291;23130941 50652 ABBA01033913;AF103907;AF103908;AL359314;AL390239;AMYH01021426;AY894120;DQ374660;NR_015342 Hs.663766 1695808;1716251 RH121153;SHGC-82569 DD3;NCRNA00019;PCAT3 miscrna ENSG00000225937 8637 604845 PROVISIONAL 1347827 PCANAP2 prostate cancer associated protein 2 61503 10613842 50629 AF109299 Hs.278695 IPCA-2 protein-coding 8640 1349133 PCANAP7 prostate cancer associated protein 7 61503 10613842 AF109302 8643 1354136 PCANAP8 prostate cancer associated protein 8 61503 10613842 50633 AF109303 Hs.278695 IPCA-8 protein-coding 8644 1343740 PCAP predisposing for prostate cancer 7240710 9585607 7834 1341810 D1S2842 2293374;2299878;2299881 PRSTS278_H;PRSTS315_H;PRSTS316_H 8645 176807 5508230 PCAT1 prostate cancer associated transcript 1 (non-protein coding) 8 q24.21 128025399 128033259 + 21804560;23640607 100750225 ABBA01037940;AC067843;AMYH01019012;HQ605084;NR_045262 Hs.571530 PCA1;PCAT-1 miscrna ENSG00000253438 43022 PROVISIONAL 1350680 PBX2 pre-B-cell leukemia homeobox 2 This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 p21.3 32260488 32265941 - 32152510 32157963 - 1580863;6480464 22374608;14667819;18973687;16344560;15489334;14656967;14574404;12871956;12609849;12477932;12054735;11438208;10082572;9482739;8661110;7910944;7835890;7759099;1682799;19356220;19659809;19851445;20416077;19913121;20587610;20628086;20126986;17207965;21804548;19322201;23042114;23266558 5089 P40425 ABBA01038108;AL662830;AL662884;AL845464;AMYH01016234;BC003111;BC082261;BQ182713;BT009823;BX284686;BX927239;CH471081;CR812478;CR933878;D28769;DB162975;NM_002586;U89336;X59842;X80700 AAB47490;AAH82261;AAP88825;ADQ32061;BAA05957;CAA42503;CAA56717;EAX03613;EAX03622;NP_002577;P40425 Hs.509545;Hs.718462 1655194;1683966;1745455;1745457;1745459;1778456;2106231;2115023;2160329;2218580 D3S4540;D6S2895;GDB:607721;GDB:607725;GDB:607728;PBX2_2038;RH46756;RH46823;WI-14626;WI-7619 G17;HOX12;PBX2MHC OTTHUMP00000029151;homeobox 12;homeobox protein PBX2;pre-B-cell leukemia transcription factor 2 APPROVED protein-coding ENSG00000204304 8633 08890 176311 REVIEWED 5687782 PCAT6 prostate cancer associated transcript 6 (non-protein coding) 1 202780074 202781041 + 20887892;23728290 100506696 ABBA01027495;AC098934;AI806248;AMYH01001652;BI962506;NR_046325;NR_046326 Hs.23459 KDM5B-AS1;PCAN-R1;ncRNA-a2 APPROVED miscrna ENSG00000228288 43714 VALIDATED 1317860 PBX1 pre-B-cell leukemia homeobox 1 This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis, and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 1 1 q23 162795561 163082934 + 164528597 164821067 + 1580863;6480464 10052460;14701856;10500199;18029348;19064610;18984668;18974129;18973687;18455790;18312624;18093541;17200190;17131398;16914730;16769578;16710414;16637071;16344560;16328158;16215946;16140554;15979049;15770739;15507449;15489334;15161102;14702039;14536079;12923056;12724421;12609849;12487626;12477932;12145285;11912494;11834421;11571641;11279116;11267683;11069920;10523646;10471746;10373562;10082572;9482740;9482739;8657138;8327485;7910944;1967983;1967982;1682799;1671560;7729685;19664597;15684392;19346496;19522013;19536175;19767769;19782160;19799567;20195544;20379614;19913121;20628086;20211142;20966902;14512427;21087615;11046157;15138251;15870273;20237320;21575942;21746878;22939629;22125492;11585930;21957483;22180614;22567123;19322201;23511488;23088713;23319801;23044487;19559479 5087 A8K5V0;B7Z774;F8WA05;H0YKH1;H0YKN0;H0YLB0;H0YLD4;H0YLF5;H0YLM3;H0YLT4;P40424;Q53YC7 ABBA01047285;ABBA01047286;ABBA01047287;ABBA01047288;AF313404;AK022520;AK022962;AK291415;AK299673;AK301540;AL049381;AL357568;AL359255;AL390119;AL391001;AMYH01001469;BC044624;BC101578;BC143435;BC143451;BT006705;BX647313;CH471067;CR749446;DA483403;DA492007;DA760179;DA770191;DB270853;DB289928;M31170;M86546;NG_028246;NM_001204961;NM_001204963;NM_002585 AAA36484;AAA60031;AAG30941;AAI01579;AAP35351;BAF84104;BAG61583;BAH13510;CAH18284;EAW90738;EAW90739;EAW90740;EAW90741;NP_001191890;NP_001191892;NP_002576;P40424 Hs.557097 1645859;1650050;1673092;1685774;1687315;1687443;1691920;1692626;1698484;1699872;1705426;1708240;1710624;1715201;1733706;1733736;1739999;1757361;1764963;1771258;1775866;1776227;1797946;1850217;1855602;2116974;2130457;2151400;2158463;2158954;2161883;2174432;2182816;5119260;5123171 1564;A003N37;A007I06;AL033591;AL034071;D13S1219;D1S1548;D1S1576;D1S1716;D1S1720;D1S2454;D1S2505E;G15916;PBX1_2674;RH102792;RH103544;RH119851;RH26827;RH36084;RH36292;RH48390;RH64526;RH68666;RH75790;RH92739;RH94226;SHGC-144759;SHGC-148519;SHGC-36037;SHGC-79383;SHGC-83793;SHGC-84103;WI-16891;WI-17626;WI-22552 DKFZp686B09108;MGC126627 OTTHUMP00000032205;OTTHUMP00000032206;Pre-B cell leukemia transcription factor-1;homeobox protein PBX1;homeobox protein PRL;pre-B-cell leukemia transcription factor 1 APPROVED protein-coding ENSG00000185630 8632 08889 176310 REVIEWED 1316248 PBX3 pre-B-cell leukemia homeobox 3 9 9 9 q33.3 99158741 99384104 + 127549487 127769477 + 128509617 128729656 + 1580863;6480464 1682799;18029348;16189514;15489334;15466398;15164053;15146197;14702039;12477932;12107413;11571641;11438208;10082572;19626039;19913121;20583170;20628086;20211142;21548940;22251480;22426282;19060904;23264595;23161775 5090 B7Z5Q0;H0Y5D0;H0YNB6;H3BLX0;P40426;Q5JS98;Q96AL5 ABBA01043794;ABBA01043795;ABBA01043796;ABBA01043797;ABBA01043798;ABBA01043799;ABBA01043800;ABBA01043801;AF355141;AF355142;AI479638;AJ420602;AK092148;AK289376;AK297093;AK299267;AK309713;AK312717;AL358074;AL445186;AL627303;AMYH01021715;BC016977;BC094883;CD675622;CH471090;CN372830;CN372832;NM_001134778;NM_006195;NR_024122;NR_024123;X59841 AAH16977;AAH94883;AAL09477;AAL09478;BAF82065;BAH12495;BAH12986;CAA42502;EAW87635;EAW87636;EAW87637;EAW87638;NP_001128250;NP_006186;P40426 Hs.428027 1644058;1674326;1724083;1797948;1856231;2119319;2134081;2149134;2157152;2163156;2164057;2187176;5093660;5093816 A009U31;A009X15;G07093;G32849;G32940;PBX3_2144;RH118782;RH45491;RH69772;SGC30847;SHGC-30429;SHGC-33994;STS-H74197;WI-16961 OTTHUMP00000022145;OTTHUMP00000022146;OTTHUMP00000022148;homeobox protein PBX3;pre-B-cell leukemia transcription factor 3 protein-coding ENSG00000167081 8634 15938 176312 VALIDATED 7247676 PCAT8 prostate cancer associated transcript 8 (non-protein coding) q24.21 20874843 101867536 AB458446 Hs.652970 PRNCR1 miscrna 48942 2302688 PCAT4 prostate cancer associated transcript 4 (non-protein coding) 4 4 4 q21.1 78082224 78084181 + 80967563 81003419 + 80748625 80784401 + 18454873;18188713;17468839;15299187;14702039;12477932;11917942;11536302 118425 Q96J93 ABBA01063396;ABBA01063397;ABBA01063398;ABBA01063399;AC118141;AF388200;AF462307;AK056825;AMYH01014336;BC125139;CH471057;NR_026555 AAK83352;ABM84134;ABM87535;EAX05846;EAX05847;Q96J93 Hs.104215 1338152;1650642;1716815;1851518;2115916;2115918 D4S2964;D4S319;RH122215;SHGC-50471;SHGC-51578;WI-2879 PCA4;PCAN1 APPROVED miscrna ENSG00000251321 24853 17035 609717 VALIDATED 1313054 PBXIP1 pre-B-cell leukemia homeobox interacting protein 1 1 1 1 q21.3 127987581 127999592 - 153183180 153195191 - 154916556 154928567 - 1580863;6480464 10825160;16713569;16189514;14702039;12477932;12360403;7505766;19616115;18029348;19060904;20211142;17043237;18624398;18781797;21987572;21906983;22187427 57326 B4E1J0;F2Z2Z8;F5H2F6;Q5T173;Q96AQ6 ABBA01016724;ABBA01016725;AF221521;AK022497;AK023219;AK300544;AK300987;AK303413;AK303863;AK310388;AK310712;AK315551;AL451085;AMYH01001420;BC016852;CH471121;NM_020524;U00952 AAG02026;AAH16852;ABZ92129;BAB14059;BAB14471;BAG62252;BAG62606;BAG64466;BAG64802;EAW53174;EAW53175;EAW53176;NP_065385;Q96AQ6 Hs.505806 1652070;2108341;2110689;2146861;2171928;2177247 A002B11;Cda0tg01;PBXIP1_8075;PYGO2_8120;RH15903;STS-W05360 HPIP OTTHUMP00000035484;OTTHUMP00000035485;OTTHUMP00000035486;OTTHUMP00000035487;hematopoietic PBX-interacting protein;pre-B-cell leukemia transcription factor-interacting protein 1 protein-coding ENSG00000163346 21199 17823 PROVISIONAL 1352135 PCBP2P1 poly(rC) binding protein 2 pseudogene 1 21 21 21 q22.3 25740343 25741963 + 39464600 39466124 + 40543076 40544032 - 10936052;10830953 101060045 ABBA01009348;AF129408;AMYH01012244;NG_033131 1816656;1817504;1897342;1897344;1897346;1897348;1897350;1897352;1897354;1897356;1897358;1897360;1897362;1897364;1897366;1897368;1897370;1897372;1897374;1897376;2202862 ECD09371;ECD09802;REN19463;REN19464;REN19465;REN19466;REN19467;REN19468;REN19469;REN19470;REN19471;REN19472;REN19473;REN19474;REN19475;REN19476;REN19477;REN19478;REN19479;REN19480;stSG622578 APPROVED pseudo ENSG00000235701 8649 INFERRED 1345476 PBX4 pre-B-cell leukemia homeobox 4 This gene encodes a member of the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofactors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011] 19 19 19 p12 19576585 19633514 - 19533522 19590439 - 19672516 19729725 - 1580863;6480464 19060906;18987386;18193044;15489334;14702039;12477932;11335119;20679960;8889548;18033668;22208664;20686565;22185299;23251661 80714 H0YL59;Q9BYU1 ABBA01051335;ABBA01051336;ABBA01051337;AC002306;AC011448;AJ300182;AK097427;AK301631;AMYH01009609;AMYH01009610;BC033067;BC141859;BC143588;BC143589;BG683004;CH471106;CK300861;NM_025245;NR_038198 AAI41860;AAI43093;BAG53471;BAH13525;CAC28212;EAW84834;EAW84835;NP_079521;Q9BYU1 Hs.466257 2142099;2217696 PBX4_2885;SHGC-58358 homeobox protein PBX4 APPROVED protein-coding ENSG00000105717 13403 16287 608127 REVIEWED 1351102 PCBP2P2 poly(rC) binding protein 2 pseudogene 2 8 8 8 q21-q22 71509345 71510998 - 75677839 75679320 - 75515112 75516763 - 10936052 286157 ABBA01041985;AC115837;AMYH01018799;NG_008071 1732600 D13S622 APPROVED pseudo 8650 INFERRED 4144390 PCBP2P3 poly(rC) binding protein 2 pseudogene 3 5 5 5 q14.3 87041637 87042478 - 91175257 91207447 - 91139504 91140345 - 100131236 ABBA01062169;AC010256;AC093298;AMYH01015480;NG_021857 pseudo 39032 INFERRED 733418 PC pyruvate carboxylase This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q13.4-q13.5 66372573 66482423 - 66615997 66725847 - 1580863;1601549;737741;1601554;1300048;2302972;2302809;2302851;2302971;6480464;6907045;7240710 12112657;9585612;15507531;5773282;18613815;4353083;6049928 8048912;12437512;7918683;16729965;19004141;18297087;16344560;16325442;15489334;15146197;12477932;12142734;10229653;9597748;9585002;8349677;7822739;7805591;7698008;6548474;3555348;18676167;19296078;19306334;20877624;20807508;18678647;20301764;20431927;22939629;21139048;21926972;22174851;21642987;23294723;23383084;23455922 5091 B4DN00;E9PRE7;E9PS68;P11498 ABBA01024056;ABBA01024057;ABBA01024058;ABBA01024059;ABBA01024060;AK297705;AMYH01003736;AMYH01003737;AP000485;AP003176;BC011617;CH471076;CN267865;DA542083;HB872407;HB873667;HB875538;HB880048;HB888783;HB921592;HC929816;HC931076;HC932947;HC937457;HC946192;HC979001;K02282;M26122;NG_008319;NM_000920;NM_001040716;NM_022172;S72370;U04641;U30889;U30890;U30891 AAA36423;AAA60033;AAA82937;AAA99537;AAB31500;AAH11617;BAG60062;CBF60260;CBF61085;CBF62141;CBF64322;CBF68536;CBF95786;CBU85504;CBU86113;CBU87017;CBU89198;CBU93410;CBV09306;EAW74568;EAW74569;EAW74570;EAW74571;EAW74572;NP_000911;NP_001035806;NP_071504;P11498 Hs.89890 1342015;1675818;1736973;1742561;1757547;2152544;2153975;2161000;2219470;5107822;5124780 D11S2683;D1S1178;G07232;GDB:197884;PC;PC__5832;RH92701;RH98812;SHGC-144979;SHGC-30028;STS-U30889 PCB OTTHUMP00000235155;OTTHUMP00000235156;pyruvate carboxylase, mitochondrial;pyruvic carboxylase APPROVED protein-coding ENSG00000173599 8636 02032 176860;266150;608786;612304 REVIEWED 1626530 PCBP3OT poly(rC) binding protein 3 overlapping transcript q22.3 17525332 100113383 AK126016 BAC86394;Q6ZU33 Hs.474049 FLJ44028 protein-coding 33548 1353306 PCBD2 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 5 5 5 q31.1 130369123 130422077 + 134268709 134326235 + 134240810 134298336 + 6480464 11980910;18391951;15546961;15489334;15182178;12646162;12477932;11591653;11230166;8889548;17353931;20211142;20877624;21832049;23568457;22751105;23263487 84105 H0YA52;Q9H0N5 ABBA01068730;ABBA01068731;ABBA01068732;ABBA01068733;ABBA01068734;AC006077;AC008670;AF499009;AK098495;AL136721;AMYH01015626;BC054021;BU730195;CH471062;NM_032151 AAH54021;AAM18136;ACE86859;ACE87547;CAB66655;EAW62229;NP_115527;Q9H0N5 Hs.710014 1339827;1647201;1653984;1735490;1773308;2126389;2134269;5015404;5015861;5016478;5022578;5022651;5023543;5024413;5037552;5094680;5094684;7185938 A007G12;D10S16;D11S2921;D1S1423;D5S1608E;D5S2056;D8S2279;GDB:434012;L17705;L17877;PMC55343P10;PMC55343P12;PMC55343P9;RH44701;RH69300;SGC33588;WI-11839 DCOH2;DCOHM;PHS2 4-alpha-hydroxy-tetrahydropterin dehydratase 2;6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2;DcoH-like protein DCoHm;HNF-1-alpha dimerization cofactor;OTTHUMP00000223129;OTTHUMP00000223130;OTTHUMP00000223131;PHS 2;dimerization cofactor of hepatocyte nuclear factor 1 (HNF1) from muscle;dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1);dimerization cofactor of hepatocyte nuclear factor 1 from muscle;pterin-4 alpha-carbinolamine dehydratase 2;pterin-4-alpha-carbinolamine dehydratase 2 protein-coding 24474 17824 609836 VALIDATED 6482568 PCBP1-AS1 PCBP1 antisense RNA 1 2 p14 70189395 70314147 - 12477932;14702039 400960 ABBA01075517;ABBA01075518;ABBA01075519;ABBA01075520;ABBA01075521;AC016700;AC079811;AK056822;AK098230;AK308634;AMYH01010423;AMYH01010424;BC040598;NR_033872 Hs.683864;Hs.716915 1335582;1664073;1667517;1695350;1719513;1722715;1725385;1734776;1760771;1857937;2132900;5014051;5015619;5015961;5022578;5037552;5109281;5118444 A006T05;D11S3114;D11S3316;D15S1477;D1S1423;D1S1425;D2S1554E;D2S2791;D2S327;D8S2278;D8S2279;G60443;RH119010;RH123477;RH16271;SHGC-144287;SHGC-34308;SHGC-68237 APPROVED miscrna ENSG00000179818 42948 VALIDATED 6483996 PCCA-AS1 PCCA antisense RNA 1 13 q32.3 101116691 101133269 - 100885777 AA430203;AA758845;ABBA01027088;AL136526;AMYH01005334;NR_047686 Hs.662554 APPROVED miscrna 39901 VALIDATED 1604063 PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). [provided by RefSeq, Jul 2008] 10 10 q22 72313273 72318547 - 72643267 72648541 - 6480464 16189514;1763325;16423549;15740590;15489334;12565907;12477932;11980910;11937441;11668623;11461190;10727395;10098606;9760199;9585615;9391049;9092652;8889548;8682201;8618906;8504250;8486378;8444860;8352282;8188266;7763270;17353931;21145461;16385451;19491146;19674121;20532202;20211142;18029348;20195357;21988832;23000965;21139048;21890473;21047120;22623531;23251661;22053931 5092 P61457;Q6LEE2 AA397961;ABBA01019635;AC073176;AF082858;AMYH01002815;BC006324;BM724638;BQ685076;CH471083;CR542194;L15410;L15427;L15428;L41559;L41560;M83742;NG_008646;NM_000281 AAA35670;AAA35671;AAA35672;AAA69662;AAA69663;AAD25732;AAH06324;CAG46991;EAW54417;NP_000272;P61457 Hs.3192 1725659;1776541;2108343;2184365;7186931 G62038;PCBD_8522;RH78920;STS-L41559 DCOH;PCBD;PCD;PHS 4-alpha-hydroxy-tetrahydropterin dehydratase;6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1);OTTHUMP00000019765;dimerization cofactor of HNF1;dimerizing cofactor for HNF1;phenylalanine hydroxylase-stimulating protein;pterin-4-alpha-carbinolamine dehydratase APPROVED protein-coding ENSG00000166228 8646 00523 126090 REVIEWED 1353218 PCBP1 poly(rC) binding protein 1 This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008] 2 2 p13-p12 70168203 70169836 + 70314585 70316335 + 1580863;6480464;6907045 7556077;7607214;8152927;16713569;12226669;19211566;18656558;18511687;17622584;17389360;17383969;17081983;16964243;16775011;16510139;16341674;16248985;15933215;15635413;15514164;15489334;15456888;15302935;15246275;15169918;14612387;12970749;12933794;12890803;12527772;12431987;12414943;12011088;11790298;11591653;10936052;10455157;10373504;9234743;8855318;8833161;12477932;17643375;20361869;20609352;20519371;17207965;21145461;21319273;22801034;20811636;21832049;22863883;22939629;20360068;21930702;17314511;21752917;19471022;22105485;17332742;21110914;22673507;18457437;18781797;21139048;21549307;21890473;21906983;21987572;22118674;22102042;17361185;19322201;21575865;21628590;22354994;19727227;19738201;19805454;20462248;21963094;21988832;22304920;22365833;22623428;23000965;23246001;23398456;23438482;23478261;17451601;19166625;19808671;21853274;22505724 5093 Q15365;Q53SS8 ABBA01075521;AC016700;AK130439;AK314225;AMYH01010424;AMYH01010425;BC039742;BM794597;CH471053;NG_029956;NM_006196;U24223;X78137;Z29505 AAA91317;AAH39742;AAX93191;ADQ32466;BAG36897;CAA55016;CAA82631;EAW99834;NP_006187;Q15365 Hs.2853 1734776;1857937;2127305;2190763 A006T05;D2S1554E;PCBP1;SHGC-12894 HNRPE1;HNRPX;hnRNP-E1;hnRNP-X OTTHUMP00000160048;alpha-CP1;heterogeneous nuclear ribonucleoprotein E1;heterogenous nuclear ribonucleoprotein E1;heterogenous nuclear ribonucleoprotein X;hnRNP E1;nucleic acid binding protein sub 2.3;nucleic acid-binding protein SUB2.3;poly(rC)-binding protein 1 APPROVED protein-coding ENSG00000169564 8647 03128 601209 REVIEWED 1316622 PCBP3 poly(rC) binding protein 3 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 32382957 32473995 + 46094303 46186795 + 47269875 47362368 + 1580863;6480464 10936052;7556077;16780588;16713569;15489334;14702039;14612387;12477932;12358435;12003487;10830953;18029348;17643375;19914360;22939629;21906983;16051665;20360068;22178446;21901158;22505724 54039 E9PFP8;J3QT27;P57721 ABBA01074216;ABBA01074217;AF176329;AJ011931;AJ239328;AK094301;AK310131;AK310672;AL592528;AMYH01012324;AMYH01012325;AMYH01012326;AY780793;BC012061;CH471079;NM_001130141;NM_020528 AAG09240;AAH12061;AAV98363;BAC04327;EAX09323;EAX09324;EAX09325;EAX09326;NP_001123613;NP_065389;P57721 Hs.474049 1340966;1661140;1684598;1697462;1790667 D21S112;RH102232;RH38906;SHGC-87718;STS_CEB290 ALPHA-CP3 OTTHUMP00000115464;OTTHUMP00000115465;OTTHUMP00000115466;OTTHUMP00000115467;OTTHUMP00000115468;OTTHUMP00000115469;poly(rC)-binding protein 3 APPROVED protein-coding ENSG00000183570 8651 10534 608502 REVIEWED 1348202 PCDH10 protocadherin 10 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Alternatively spliced transcripts encode isoforms with unique cytoplasmic domains. [provided by RefSeq, Jul 2008] 4 4 q28.3 134289920 134332182 + 134070470 134112732 + 1580863;6480464 20353276;19262141;19084528;18644894;16247458;12477932;11549318;11230163;10835267;10817752;10718198;10716726;10380929;8012384;19681120;19709077;20379614;21597995;18621663;21237250;21314642;22206871;22245948;21960365;23321465;23180019;23260144 57575 Q96SF0;Q9NSR3;Q9P2E7 AB037821;ABBA01044864;AC105383;AK024636;AK314377;AL157470;AMYH01014542;AY013874;BC111560;CH471056;NM_020815;NM_032961;Z60272 AAI11561;AAK21987;AAY41018;BAA92638;BAB14940;BAG37004;CAB75667;EAX05151;EAX05152;NP_065866;NP_116586;Q9P2E7 Hs.192859 2107485;2163622;2168985 L29660;PCDH10_3290.2;SHGC-24774 DKFZp761O2023;KIAA1400;MGC133344;OL-PCDH;PCDH19 OTTHUMP00000220001;ortholog of OL-pcdh;protocadherin-10 APPROVED protein-coding ENSG00000138650 13404 12204 608286 REVIEWED 1320065 PCBP2 poly(rC) binding protein 2 The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q13.12-q13.13 52132161 52159872 + 53845886 53874946 + 6480464 7607214;16713569;7556077;12226669;19211566;18929541;18701464;18687895;18656221;18252259;18174314;18086560;17672918;17581994;17526645;17426136;17219427;17145707;17081983;16341674;16186123;16094384;15489334;15331611;15231748;14702039;14612387;12970749;12527772;12515719;12477932;12414943;12011088;10936052;10772858;10455157;10373504;10068686;9234743;9223526;8855318;8833161;8125298;8871564;11747608;17183366;17327219;17643375;19029303;19881509;19945132;20211135;19230839;21145461;21319273;21752917;22990118;20946988;21723381;22939629;18029348;16196087;20000738;21632751;21252943;18457437;18781797;20360068;21081666;21987572;22022391;22079093;22118674;19471022;21139048;21890473;21906983;21110914;19322201;22379092;22438951;22633452;19808671;21853274;22268729;22505724;22797925;18850631;19738201;21963094;21988832;22365833;22431556;22623428;23000965;23246001;23438482;23455922;23463506;23585479 5094 B4DLC0;B4DXP5;F8VRH0;F8VTZ0;F8VXH9;F8VZX2;F8W0G4;F8W1G6;G3V0E8;H3BND9;H3BRU6;H3BSP4;H3BSS4;Q6PKG5 AB188306;AB208825;ABBA01008340;ABBA01008341;AC023509;AC068889;AK023529;AK123458;AK130583;AK225357;AK292141;AK299210;AK302067;AMYH01004481;AMYH01004482;BC001155;BC035420;BC071942;BC107688;BE748080;BF509278;BM764315;BU844465;CH471054;CS185528;CX164318;NM_001098620;NM_001128911;NM_001128912;NM_001128913;NM_001128914;NM_005016;NM_031989;X78136 AAH01155;AAH71942;AAI07689;BAD36897;BAD92062;BAF84830;BAG61249;BAG63457;CAA55015;CAJ42709;EAW96706;EAW96707;EAW96708;EAW96709;EAW96710;EAW96711;NP_001092090;NP_001122383;NP_001122384;NP_001122385;NP_001122386;NP_005007;NP_114366;Q15366 Hs.546271 1650453;1657491;1671215;1745099;1747723;1765557;1849234;2116267;2123827;2145852;2177416;2202860;5019829 A009Z15;D12S2095;D12S2145;G15864;G33012;G64241;GDB:593999;RH68110;RH68915;SHGC-149024;SHGC-34296;WI-20583;stSG622577 HNRNPE2;HNRPE2;MGC110998;hnRNP-E2 OTTHUMP00000241100;OTTHUMP00000241101;OTTHUMP00000241102;OTTHUMP00000241103;OTTHUMP00000241104;OTTHUMP00000242722;OTTHUMP00000242723;OTTHUMP00000243002;OTTHUMP00000243006;OTTHUMP00000243008;OTTHUMP00000243010;OTTHUMP00000243320;alpha-CP2;heterogeneous nuclear ribonucleoprotein E2;heterogenous nuclear ribonucleoprotein E2;hnRNP E2;poly(rC)-binding protein 2 APPROVED protein-coding ENSG00000197111 8648 03129 601210 REVIEWED 1353305 PCDH11X protocadherin 11 X-linked This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. [provided by RefSeq, Jul 2008] X X q21.3 90920960 91764882 + 91034260 91878229 + 6480464 10644456;19136949;19125366;18029348;16825765;15772651;14727141;14660691;12815422;11003707;10835267;10817752;10718198;10716726;9110174;8619474;22808956;20555150;20574532;20707987;15905963;16874762;18502103;19859901;20523261;8889548;21276771;23600975;19389623 27328 H7BXL5;Q96RW0 AB026187;AB026188;AB037747;ABBA01011636;AC004388;AC004478;AF206516;AF217288;AF332218;AF332219;AJ276804;AJ564847;AJ564855;AJ564856;AJ564931;AJ564932;AJ564933;AJ564934;AJ564935;AJ564936;AJ564937;AJ564938;AJ564939;AJ564942;AJ564943;AJ564945;AJ564946;AJ564947;AJ564959;AK299813;AK316263;AL121869;AL133274;AL133321;AL136362;AL590122;AMYH01022683;AMYH01022684;AMYH01022685;AMYH01022686;AY861432;AY861433;AY861434;AY861435;BQ184367;DC350976;NG_016251;NM_001168360;NM_001168361;NM_001168362;NM_001168363;NM_014522;NM_032967;NM_032968;NM_032969;U79247 AAI67817;AAK13470;AAK13471;AAK82655;AAK82656;AAX56122;AAX56123;AAX56124;AAX56125;BAA90765;BAA90766;BAA92564;BAG61685;BAH14634;CAC13123;CAD92410;CAD92411;CAD92412;CAD92413;CAD92414;CAD92415;CAD92416;CAD92417;CAD92418;CAD92421;CAD92422;CAD92424;CAD92425;CAD92426;CAD92430;NP_001161832;NP_001161833;NP_001161834;NP_001161835;NP_055337;NP_116749;NP_116750;NP_116751;Q9BZA7 Hs.655673 1660711;1663704;1678715;1689783;1691230;1702162;1703168;1724445;1725447;1732481;1770137;1781870;1848546;1849303;1851695;2124627;2130709;2134617;2135242;2138579;2146914;2152259;2155013;2155098;2160372;2164797;2169405;2176127;2182629;2188137;2188139;2188141;2188143;2188145;2188147;2188151;2188153;2188155;2188157;2188159;2188161;2188163;2188165;2188171;2188177;2188181;2188183;2188185;2188187;2188191;2218798;2218800;5015404;5016478;5021860;5021866;5021870;5021872;5022651;5023051;5023057;5023061;5116510;5116524;5116526;5116550;5116554;5116556;5116558;5116560;5116586;5116588;5116590;5116592;5116594;5116596;5116598;5116600;5116646;5116676;5116678;5116680;5116682;5116686;5116690;5116694;5116696;5116698;5116700;5116702;5116704 AFM178XC11;D11S2921;DXS1468;DXS1495;DXS7616;DXS7644;DXS7645;DXS7646;DXS7650;DXS7684;DXS7686;DXS7704;DXS8365;DXS9769;DXYS12;DXYS122;DXYS123;DXYS124;DXYS221;DXYS9;DYS254;DYS255;G19304;G66075;G66076;G66077;G66078;G66080;G66081;G66083;G66084;G66085;G66087;G66088;G66089;G66090;G66091;G66247;G66251;G66253;G66254;G66255;G66257;G66259;GDB:434012;L17705;PCDHXE4.1UTR;PCDHXI68236;RH119119;RH122385;RH65271;RH65378;SHGC-100227;SHGC-53941;UniSTS:149007;sY3026;sY3035;sY3036;sY3037;sY3038;sY3054;sY3056;sY3057;sY3058;sY3059;sY3060;sY3061;sY3074;sY3076;sY3078;sY3079;sY3080;sY3081;sY3082;sY3084;sY3085;sY3086;sY3087;sY3110;sY3125;sY3126;sY3127;sY3128;sY3130;sY3132;sY3134;sY3135;sY3136;sY3137;sY3138;sY3139 PCDH-X;PCDH11;PCDHX;PCDHY OTTHUMP00000023640;OTTHUMP00000023641;OTTHUMP00000023642;OTTHUMP00000023643;OTTHUMP00000023644;OTTHUMP00000217564;OTTHUMP00000217565;OTTHUMP00000217566;protocadherin 11X;protocadherin on the X chromosome;protocadherin-11 X-linked;protocadherin-S APPROVED protein-coding ENSG00000102290 8656 02215 300246 REVIEWED 1349634 PCDH11Y protocadherin 11 Y-linked This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Y Y p11.2 4928267 5670265 + 4868267 5610265 + 1580863;6480464 22808956;18029348;19125366;18938061;17357069;16637074;16331680;14727141;14660691;12815422;12420223;11003707;10835267;10817752;10716726;16874762;19859901;21276771;15274028;15297598;15958572;16741946;16825765;17189292;17671842;19812029;20503398;21480486;22744706;23600975 83259 H0Y3S6;J3QSR5;Q70LS5 AA865592;ABBA01069889;ABBA01069890;ABBA01069891;ABBA01069892;ABBA01069893;ABBA01069894;ABBA01069895;ABBA01069896;ABBA01069897;ABBA01069898;ABBA01069899;ABBA01069900;ABBA01069901;ABBA01069902;ABBA01069903;ABBA01069904;ABBA01069905;ABBA01069906;ABBA01069907;ABBA01069908;ABBA01069909;ABBA01069910;ABBA01069911;ABBA01069912;ABBA01069913;ABBA01069914;ABBA01069915;ABBA01069916;ABBA01069917;ABBA01069918;ABBA01069919;ABBA01069920;ABBA01069921;ABBA01069922;ABBA01069923;ABBA01069924;ABBA01069925;AC010081;AC010129;AC010685;AC010722;AC012067;AC012667;AF277053;AF332216;AF332217;AJ276803;AJ564948;AJ564949;AJ564954;AJ564956;AJ564957;AJ564958;AJ564960;AJ564961;AJ564962;AJ564963;AJ564964;AJ564966;AJ564967;AJ564969;AJ564970;AJ564971;AK289676;NG_011652;NM_001278619;NM_032971;NM_032972;NM_032973 AAI52898;AAK13468;AAK13469;AAL55729;BAF82365;CAC13122;CAD92427;CAD92428;CAD92429;CAD92431;CAD92432;CAD92433;CAD92434;CAD92435;CAD92437;CAD92438;CAD92440;CAD92441;CAD92442;NP_001265548;NP_116753;NP_116754;NP_116755;Q9BZA8 Hs.661308;Hs.689830 1660711;1663704;1678715;1689783;1691230;1702162;1703168;1724445;1725447;1732481;1770137;1781870;1790915;1848546;1849303;1851695;2124627;2130709;2134617;2135242;2138579;2142350;2146914;2152259;2155013;2155098;2160372;2164797;2169405;2176127;2182629;2188137;2188139;2188141;2188143;2188145;2188147;2188149;2188151;2188153;2188155;2188157;2188159;2188161;2188163;2188165;2188171;2188177;2188181;2188183;2188185;2188187;2188191;2188871;2218800;5015404;5016478;5021860;5021866;5021870;5022651;5023051;5023057;5023061;5023063;5024413;5116510;5116512;5116524;5116526;5116528;5116550;5116554;5116556;5116558;5116560;5116580;5116582;5116584;5116586;5116588;5116590;5116592;5116594;5116596;5116598;5116600;5116644;5116646;5116650;5116668;5116672;5116674;5116676;5116678;5116680;5116682;5116684;5116686;5116688;5116690;5116692;5116694;5116696;5116698;5116700;5116702;5116704 AFM178XC11;D11S2921;DXS1468;DXS1495;DXS7616;DXS7644;DXS7645;DXS7646;DXS7650;DXS7684;DXS7686;DXS7704;DXS8365;DXS9769;DXYS12;DXYS121;DXYS122;DXYS123;DXYS124;DXYS221;DXYS9;DYS254;DYS255;G19304;G65945;G66075;G66076;G66077;G66078;G66080;G66081;G66082;G66083;G66084;G66085;G66087;G66088;G66089;G66090;G66091;G66247;G66251;G66253;G66254;G66255;G66257;G66259;GDB:434012;L17705;L17877;PCDHXI68236;RH119119;RH122385;RH65271;RH65378;SHGC-100227;SHGC-53941;UniSTS:149007;sY1240;sY3026;sY3027;sY3035;sY3036;sY3037;sY3038;sY3039;sY3054;sY3056;sY3057;sY3058;sY3059;sY3060;sY3061;sY3073;sY3074;sY3075;sY3076;sY3077;sY3078;sY3079;sY3080;sY3081;sY3082;sY3083;sY3085;sY3086;sY3087;sY3109;sY3110;sY3112;sY3121;sY3123;sY3124;sY3125;sY3126;sY3127;sY3128;sY3129;sY3130;sY3131;sY3132;sY3133;sY3134;sY3135;sY3136;sY3137;sY3138;sY3139 PCDH-PC;PCDH11X;PCDH22;PCDHY OTTHUMP00000033076;OTTHUMP00000033077;OTTHUMP00000033078;PCDH-Y;protocadherin 22;protocadherin Y;protocadherin on the Y chromosome;protocadherin prostate cancer;protocadherin-11 Y-linked;protocadherin-22;protocadherin-PC APPROVED protein-coding ENSG00000099715 15813 11847 400022 REVIEWED 1318287 PCDH1 protocadherin 1 This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008] 5 5 5 q31.3 137309824 137335077 - 141212856 141238128 - 141232672 141257944 - 1580863;6480464 8508762;16303743;15592455;15345747;15231748;12477932;10835267;10817752;10716726;9132272;8889548;19729670;21103663;21906983;21982948;21929597;15174051;23050600;23377640;23406873;16344560 5097 B3KQM8;D6RAX3;D6RBG2;F5H3L5;H0Y2Z9;H0Y9F5;H0Y9I5;Q08174 ABBA01026399;AC094107;AK075233;AK289512;AK300564;AK304231;AK308338;AMYH01015661;BC035812;BC051287;BC075821;BM680840;BU743106;CH471062;CS174722;DA096772;HO663512;L11369;NM_001278613;NM_001278615;NM_002587;NM_032420 AAA36418;AAH35812;ADZ15535;BAF82201;BAG52090;BAG62270;BAG65100;CAJ34554;EAW61900;EAW61901;EAW61902;EAW61903;NP_001265542;NP_001265544;NP_002578;NP_115796;Q08174 Hs.79769 1790761;1790763;2113804;2143004 5q31-33_43;5q31-33_44;PCDH1;WI-7860 FLJ53887;MGC45991;PC42;PCDH42 OTTHUMP00000160067;OTTHUMP00000198748;OTTHUMP00000222763;cadherin-like 1;cadherin-like protein 1;protocadherin 42;protocadherin-1;protocadherin-42 APPROVED protein-coding ENSG00000156453 8655 04692 603626 REVIEWED 1317376 PCBP4 poly(rC) binding protein 4 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008] 3 3 p21 51966514 51976509 - 51991470 52001482 - 1580863;6480464 10936052;17973258;16713569;15489334;14702039;14612387;12477932;12003487;11984006;11313928;10891498;8125298;19913121;20628086;15205328;16344560;8889548;21906983;22505724;22797925 57060 B3KM64;C9IZV9;C9J0A4;C9J5V4;C9J7A9;C9JSA6;C9JTY5;C9JZY3;C9K0A2;F8WC71;P57723;Q9GZT1 ABBA01024518;AC115284;AF092441;AF141340;AF176330;AF257770;AF257771;AF257772;AK001244;AK023993;AK225815;AMYH01013180;BC003008;BC004153;BC017098;BU684420;BX647811;CH471055;DA074216;DA701799;NG_029694;NM_001174100;NM_020418;NM_033008;NM_033010 AAG02184;AAG02185;AAG02186;AAG09241;AAG49443;AAH03008;AAH04153;AAH17098;AAP97216;BAB14761;BAG50876;EAW65165;EAW65166;EAW65167;EAW65168;EAW65169;EAW65170;EAW65171;EAW65172;EAW65173;EAW65174;EAW65175;EAW65176;EAW65177;NP_001167571;NP_065151;NP_127501;NP_127503;P57723 Hs.20930 1661928;1743077;1852613;2181930;2219462;5491248 GDB:251741;MARC_5625-5626:991939665:1;PCBP4__5834;RH16446;SGC33900;STS-W84536 CBP;LIP4;MCG10 LYST-interacting protein;OTTHUMP00000212035;OTTHUMP00000212036;OTTHUMP00000212037;OTTHUMP00000212039;RNA binding protein MCG10;alpha-CP4;alphaCP-4 protein;poly(rC)-binding protein 4 APPROVED protein-coding ENSG00000090097 8652 16343 608503 REVIEWED 731965 PCCB propionyl CoA carboxylase, beta polypeptide The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 3 3 q21-q22 137451857 137531701 + 135969167 136049013 + 1600331;1580863;1300048;6480464;6907045;7240710 8411997 8188292;17051315;16344560;15489334;15059621;14671302;12757933;12559849;12477932;12189489;12007220;11749052;10502773;10447268;9683601;8225321;8125298;7092804;6245185;3460076;2895916;2587127;2154743;240144;19936222;20031576;20725044;19913121;20628086;20877624;20186120;18457437;21139048;22593918;18678647;20301313;20881960;21642987;19380743 5096 C9JAW3;C9JQS9;C9JVW9;C9JVY9;E7ENC1;E7ETT1;E7ETT4;E7EUY3;E7EX59;E9PDR0;E9PEC3;F8WBI9;H7C5C9;P05166 AB209009;ABBA01059126;ABBA01059127;AC069524;AF217984;AI191766;AJ006487;AK130359;AK225215;AK225733;AK295312;AK302522;AK303079;AL831978;AMYH01013520;AY399219;BC005909;BC013768;BC018013;BC053661;CH471052;DA090969;M13573;M31167;M31169;NG_008939;NM_000532;NM_001178014;S67325;X73424 AAA60036;AAA60037;AAA60038;AAB28900;AAG17227;AAH13768;AAH18013;AAH53661;ADZ15494;BAD92246;BAH12030;BAH13735;BAH13894;CAA07066;CAA51825;CAD89898;EAW79116;EAW79117;EAW79118;NP_000523;NP_001171485;P05166 Hs.63788 1684497;1699244;1773794;2116919;2142095;2153056;5015925;5016596;5093096;5120830;5120832;5120834;5120838;5491409 A009F46;G32517;GDB:375677;GDB:375685;GDB:375688;GDB:375691;GDB:375697;GDB:631802;MARC_10213-10214:997278182:1;RH103203;RH94340;SHGC-54603;SHGC-64944;WI-15777 DKFZp451E113 OTTHUMP00000216506;OTTHUMP00000216507;OTTHUMP00000216508;OTTHUMP00000216510;OTTHUMP00000216511;OTTHUMP00000216512;OTTHUMP00000216513;OTTHUMP00000216514;OTTHUMP00000216515;OTTHUMP00000216522;PCCase subunit beta;propanoyl-CoA:carbon dioxide ligase subunit beta;propionyl Coenzyme A carboxylase, beta polypeptide;propionyl-CoA carboxylase beta chain, mitochondrial APPROVED protein-coding ENSG00000114054 8654 01982 232050;606054 REVIEWED 736733 PCCA propionyl CoA carboxylase, alpha polypeptide The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 13 13 q32 99539338 99980690 + 100741269 101182691 + 1580863;1600306;6480464;6907045;7240710 9385377 3460076;19157943;17966092;17051315;16344560;15890657;15489334;15059621;14702039;12559849;12477932;12385775;12226704;11592820;11136555;10502773;10329019;10101253;8895530;8434582;8188292;8125298;7656816;3687944;3555348;2740237;1427880;22156789;20725044;11749052;19157941;19296078;20379614;8889548;16751776;19913121;20628086;20877624;18457437;21139048;22593918;18678647;20301313;21642987;23396134 5095 H0Y4B9;H0Y5U0;H0Y798;P05165;Q5JTW6;Q5JVH2 ABBA01027088;ABBA01027089;ABBA01027090;ABBA01027091;ABBA01027092;ABBA01027093;ABBA01027094;AF385926;AK055982;AK225288;AK225299;AK296771;AK298318;AK315503;AL136526;AL353697;AL355338;AL356575;AMYH01005334;AY035808;BC000140;CB851764;CH471085;DA781564;HB872329;HB873589;HB875460;HB879970;HB888705;HB921514;HC929738;HC930998;HC932869;HC937379;HC946114;HC978923;M13572;M26121;NG_008768;NM_000282;NM_001127692;NM_001178004;S55656;S79219;X14608;Z36837 AAA36424;AAA60035;AAB25345;AAB35181;AAH00140;AAK61392;AAL66189;BAG37887;BAG59350;BAG60571;CAA32763;CBF60221;CBF61046;CBF62102;CBF64283;CBF68497;CBF95747;CBU85465;CBU86074;CBU86978;CBU89159;CBU93371;CBV09267;EAX09032;EAX09033;EAX09034;NP_000273;NP_001121164;NP_001171475;P05165 Hs.80741 1334720;1649153;1713957;1757435;1772427;1855513;2111632;2161771 D13S1267;D13S1567;G17705;G29194;RH119407;SGC38322;SHGC-12499;SHGC-144820 OTTHUMP00000018635;PCCase alpha subunit;pccA complementation group;propanoyl-CoA:carbon dioxide ligase alpha subunit;propionyl Coenzyme A carboxylase, alpha polypeptide;propionyl-CoA carboxylase alpha chain, mitochondrial APPROVED protein-coding ENSG00000175198 8653 01981 232000;606054 REVIEWED 1353280 PCDH15 protocadherin-related 15 This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] 10 10 q21.1 55250866 56231057 - 55562531 56561051 - 1580863;6480464;7240710 16679490;11398101;14570705;11487575;19240061;19183343;18719945;18519826;18484607;18463160;17706913;17277737;16887306;16807332;15660226;15537665;15028842;12711741;11138007;19913121;20628086;16369489;16385451;17903293;19107147;19816713;20182759;20201926;20379614;20966902;20538994;20801516;20467438;22424883;22542470;20301442;20301607;23400010;22690115;22815625 65217 A2A3D8;A2A3D9;A2A3E1;A2A3E2;A2A3E3;A2A3E4;A2A3E5;A2A3E6;A2A3E7;A2A3E8;A9Z1W1;B7ZBT8;C9J4F3;E7EM53;E7EM97;E7EMG0;E7EMG8;F8WCD8;Q8NDB9 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1;REN8202;REN8203;REN8204;REN8205;REN8206;REN8207;REN8208;REN8209;REN8210;REN8211;REN8212;REN8213;REN8214;REN8215;REN8216;REN8217;REN8218;REN8219;REN8220;REN8221;REN8222;REN8223;REN8224;REN8225;REN8226;REN8227;REN8228;REN8229;REN8230;REN8231;REN8232;REN8233;REN8234;REN8235;REN8236;REN8237;REN8238;REN8239;REN8240;REN8241;REN8242;REN8243;REN8244;REN8245;REN8246;REN8247;REN8248;REN8249;REN8250;REN8251;REN8252;REN8253;REN8254;REN8255;REN8256;REN8257;REN8258;REN8259;REN8260;REN8261;REN8262;REN8263;REN8264;REN8265;REN8266;REN8267;REN8268;REN8269;REN8270;REN8271;REN8272;REN8273;REN8274;REN8275;REN8276;REN8277;REN8278;REN8279;REN8280;REN8281;REN8282;REN8283;REN8284;REN8285;REN8286;REN8287;REN8288;REN8292;REN8293;REN8294;REN8295;REN8296;REN8297;REN8298;REN8299;REN8300;REN8301;REN8302;REN8303;REN8304;REN8305;REN8306;REN8307;REN8308;REN8309;REN8310;REN8311;REN8312;REN8313;REN8314;REN8315;REN8316;REN8317;REN8318;REN8319;REN8320;REN8321;REN8322;REN8323;REN8324;REN8325;REN8326;REN8327;REN8328;REN8329;REN8330;REN8331;REN8332;REN8333;REN8334;REN8335;REN8336;REN8337;REN8338;REN8339;REN8340;REN8341;REN8342;REN8343;REN8344;REN8345;REN8346;REN8347;REN8348;REN8349;REN8350;REN8351;REN8352;REN8353;REN8354;REN8355;REN8356;REN8357;REN8358;REN8359;REN8360;REN8361;REN8362;REN8363;REN8364;REN8365;REN8366;REN8367;REN8368;REN8369;REN8370;REN8371;REN8372;REN8373;REN8374;REN8375;REN8376;REN8377;REN8378;REN8379;REN8380;REN8381;REN8382;REN8383;REN8384;REN8385;REN8386;REN8387;REN8388;REN8389;REN8390;REN8391;REN8392;REN8393;REN8394;REN8395;REN8396;REN8397;REN8398;REN8399;REN8400;REN8401;REN8402;REN8403;REN8404;REN8405;REN8406;REN8407;REN8408;REN8409;REN8410;REN8411;REN8412;REN8413;REN8414;REN8415;REN8416;REN8417;REN8418;REN8419;REN8420;REN8421;REN8422;REN8423;REN8424;REN8425;REN8426;REN8427;REN8428;REN8429;REN8430;REN8431;REN8432;REN8433;REN8434;REN8435;REN8436;REN8437;REN8438;REN8439;REN8440;REN8441;REN8442;REN8443;REN8444;REN8445;REN8446;REN8447;REN8448;REN8449;REN8450;REN8451;REN8452;REN8453;REN8454;REN8455;REN8456;REN8457;REN8458;REN8459;REN8460;REN8461;REN8462;REN8463;REN8464;REN8465;REN8466;REN8467;REN8468;REN8469;REN8470;REN8471;REN8472;REN8473;REN8474;REN8475;REN8476;REN8477;REN8478;REN8479;REN8480;REN8481;REN8482;REN8483;REN8484;REN8485;REN8486;REN8487;REN8488;REN8489;REN8490;REN8491;REN8492;REN8493;REN8494;REN8495;REN8496;REN8497;REN8498;REN8499;REN8500;REN8501;REN8502;REN8503;REN8504;REN8505;REN8506;REN8507;REN8508;REN8509;REN8510;REN8511;REN8512;REN8513;REN8514;REN8515;REN8516;REN8517;REN8518;REN8519;RH120548;RH120854;RH122852;RH78831;RH79971;SHGC-151080;SHGC-36014;SHGC-53843;stSG617833;stSG617834;stSG617835;stSG617836;stSG617838;stSG617839;stSG617840;stSG617841;stSG617842;stSG617843;stSG617844;stSG617845;stSG617846;stSG617847;stSG617848;stSG617849;stSG617850;stSG617851;stSG617852;stSG617853;stSG617855;stSG617856;stSG617857;stSG617858;stSG617859;stSG617860;stSG617861;stSG617862;stSG617863;stSG617865;stSG617866;stSG617867;stSG617868;stSG617869;stSG617870;stSG617872;stSG617873;stSG617874;stSG617876;stSG617877;stSG617878;stSG617879;stSG617880;stSG617881;stSG617882;stSG617883;stSG617884;stSG617885;stSG617886;stSG617887;stSG617888;stSG617889;stSG617890;stSG617891;stSG617892;stSG617894;stSG617895;stSG617896;stSG617897;stSG617898;stSG617899;stSG617900;stSG617901;stSG617903;stSG617904;stSG617905;stSG617906;stSG617907;stSG617908;stSG617909;stSG617910;stSG617911;stSG617912;stSG617913;stSG617914;stSG617915;stSG617916;stSG617917;stSG617918;stSG617919;stSG617920;stSG617923;stSG617924;stSG617925;stSG617926;stSG617927;stSG617928;stSG617929;stSG617930;stSG617931;stSG617933;stSG617934;stSG617935;stSG617936;stSG617937;stSG617939;stSG617940;stSG617941;stSG617942;stSG617944;stSG617945;stSG617946;stSG617947;stSG617948;stSG617949;stSG617950;stSG617951;stSG617952;stSG617953;stSG617954;stSG617955;stSG617956;stSG617957;stSG617958;stSG617959;stSG617960;stSG617961;stSG617962;stSG617963;stSG617964;stSG617965;stSG617966;stSG617967;stSG617968;stSG617969;stSG617970;stSG617971;stSG617972;stSG617973;stSG617974;stSG617975;stSG617976;stSG617977;stSG617978;stSG617979;stSG617980;stSG617981;stSG617982;stSG617983;stSG617984;stSG617985;stSG617986;stSG617987;stSG617988;stSG617989;stSG617990;stSG617991;stSG617992;stSG617993;stSG617994;stSG617995;stSG617996;stSG617997;stSG617998;stSG617999;stSG618000;stSG618001;stSG618002;stSG618003;stSG618005;stSG618006;stSG618007;stSG618009;stSG618010;stSG618012;stSG618013;stSG618014;stSG618018;stSG618019;stSG618020;stSG618021;stSG618022;stSG618023;stSG618024;stSG618025;stSG618026;stSG618027;stSG618028;stSG618029;stSG618030;stSG618031;stSG618032;stSG618033;stSG618034;stSG618035;stSG618036;stSG618037;stSG618038;stSG618040;stSG618041;stSG618042;stSG618043;stSG618044;stSG618045;stSG618046;stSG618047;stSG618048;stSG618049;stSG618050;stSG618051;stSG618052;stSG618053;stSG618055;stSG618056;stSG618057;stSG618060;stSG618063;stSG618064;stSG618065;stSG618066;stSG618067;stSG618068;stSG618069;stSG618070;stSG618072;stSG618073;stSG618074;stSG618075;stSG618076;stSG618077;stSG618078;stSG618079;stSG618080;stSG618081;stSG618082;stSG618083;stSG618084;stSG618085;stSG618087;stSG618088;stSG618089;stSG618090;stSG618091;stSG618092;stSG618093;stSG618094;stSG618095;stSG618096;stSG618097;stSG618098;stSG618099;stSG618100;stSG618101;stSG618102;stSG618103;stSG618104;stSG618106;stSG618107;stSG618108;stSG618109;stSG618110;stSG618111;stSG618112;stSG618113;stSG618115;stSG618116;stSG618117;stSG72239 CDHR15;DFNB23;DKFZp667A1711;USH1F OTTHUMP00000019623;OTTHUMP00000019624;OTTHUMP00000185545;OTTHUMP00000185546;OTTHUMP00000185547;OTTHUMP00000185548;OTTHUMP00000185549;OTTHUMP00000185553;OTTHUMP00000199503;cadherin-related family member 15;protocadherin 15;protocadherin-15 APPROVED protein-coding ENSG00000150275 14674 05698 601067;602083;605514;609533 REVIEWED 1348823 PCDH12 protocadherin 12 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008] 5 5 5 q31 137401663 137415757 - 141304714 141318811 - 141324530 141338627 - 1580863;6480464 10380929;10716726;19054571;14702039;12975309;12477932;11063261;10835267;10817752;9651350;21402705 51294 E5RJD4;Q9NPG4 AB026893;ABBA01026392;AC005740;AF231025;AF240635;AK023785;AK024140;AK027282;AK226049;AK315029;AMYH01015662;AY358428;BC042634;BC052973;CA418447;CH471062;NM_016580 AAF61931;AAF73962;AAH42634;AAH52973;AAQ88794;BAA95162;BAB14677;BAB14837;BAB55016;BAG37515;EAW61898;NP_057664;Q9NPG4 Hs.439474;Hs.600230 1740507;1796460 D5S2298E;PCDH12_368 VE-cadherin-2;VECAD2 OTTHUMP00000160063;VE-cad-2;VE-cadherin 2;protocadherin-12;vascular cadherin-2;vascular endothelial cadherin 2;vascular endothelial cadherin-2 APPROVED protein-coding 8657 09287 605622 REVIEWED 1314160 PCDH18 protocadherin 18 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] 4 4 4 q31 135775766 135789284 - 138659522 138673079 - 138440072 138453629 - 1580863;6480464 12477932;11716507;11549318;11082270;10997877;10835267;10817752;10716726;22832960;23251661;23393555 54510 B4DLR6;B4DQ29;D6RIG4;Q9HCL0 AB046782;ABBA01044903;AC142278;AC144556;AK292018;AK297122;AK298607;AL137471;AMYH01014557;AW244162;BC022227;BC071581;BC093815;BC143361;BX647786;CH471056;NM_019035 AAH93815;AAI43362;BAB13388;BAF84707;BAG59628;BAG60791;CAB70755;CAI46014;EAX05139;EAX05140;EAX05141;NP_061908;Q9HCL0 Hs.591691;Hs.738416 1644010;1676566;1796464;5017522 PCDH18;PCDH18_1716;RH92584;SHGC-59301 DKFZp434B0923;KIAA1562;PCDH68L OTTHUMP00000220079;OTTHUMP00000220080;OTTHUMP00000220081;OTTHUMP00000220082;protocadherin 68-like protein;protocadherin-18 APPROVED protein-coding ENSG00000189184 14268 12205 608287 REVIEWED 5131390 PCDH8P1 protocadherin 8 pseudogene 1 13 13 13 q14.3 34760148 34762588 + 52672117 52796323 + 53774116 53776547 + 100133285 ABBA01037063;AL136359;AL450423;NG_011534 1705040;1707272;1713479;1730926;2167094 D13S1170;D13S59;RH120223;SHGC-78038;SHGC-79237 pseudo 39937 INFERRED 6481275 PCDH9-AS1 PCDH9 antisense RNA 1 100874065 AL355173 APPROVED miscrna 39897 6481271 PCDH9-AS2 PCDH9 antisense RNA 2 13 67399301 67489163 + 100874064 AA889658;ABBA01050283;AL138682;AL138814;AMYH01005185;BX117607;NR_046527 Hs.569284 APPROVED miscrna ENSG00000228842 39896 VALIDATED 6481290 PCDH9-AS3 PCDH9 antisense RNA 3 13 67551521 67559908 + 100874086 ABBA01050286;AI073488;AL138682;AMYH01005185;BX096806;NR_046636 Hs.577908;Hs.738194 APPROVED miscrna ENSG00000225263 40427 VALIDATED 6481292 PCDH9-AS4 PCDH9 antisense RNA 4 100874087 AI809643;AL138682 Hs.606903 APPROVED miscrna 40428 1352837 PCDHA1 protocadherin alpha 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136242652 136468708 + 140146060 140372113 + 140165876 140391929 + 1580863;6480464 10380929;18496207;15372022;11230163;10835267;10817752;10737800;10716726;10662547;17474147;23204437;22589738 56147 Q9Y5I3 ABBA01026419;ABBA01026420;ABBA01026421;ABBA01026422;AC005609;AC008468;AC010223;AF152305;AF152479;AF169695;AMYH01015661;BF089693;NG_000016;NM_018900;NM_031410;NM_031411 AAC34325;AAD43699;AAD43740;AAF89692;AAI66697;NP_061723;NP_113598;NP_113599;Q9Y5I3 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA1 KIAA0345-like 13;OTTHUMP00000223677;OTTHUMP00000232596;PCDH-alpha-1;protocadherin alpha-1 APPROVED protein-coding ENSG00000204970 8663 07319 606307 REVIEWED 1346973 PCDH7 protocadherin 7 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008] 4 4 4 p15 31175622 31601081 + 30331135 30757519 + 30722030 31148423 + 1580863;6480464 9615233;19414679;17081983;15592455;15302935;12477932;10835267;10817752;10716726;10571067;20379614;22939629;21875946;22028671;23251661 5099 F5GWJ1;H0YAH0;O60245 AB006755;AB006756;AB006757;ABBA01032774;ABBA01032775;ABBA01032776;ABBA01032777;ABBA01032778;ABBA01032779;ABBA01032780;ABBA01032781;ABBA01032782;AC097716;AC098595;AC107394;AC110766;AC112239;AI041228;AMYH01014090;BC020338;BC040983;BG289962;CH471069;NM_001173523;NM_002589;NM_032456;NM_032457 AAY40944;BAA25194;BAA25195;BAA25196;EAW92861;EAW92862;EAW92863;EAW92864;EAW92865;NP_001166994;NP_002580;NP_115832;NP_115833;O60245 Hs.479439 1656378;1690972;1701542;1707684;1707750;1797954;1850072;1854619;2107801;2113764;2120466;2143946;2155330;2156010;2166682;2171705;2172933;2183634;5017533 112XD4;AB047893;D4S1247;D4S1277;D4S3215;D4S322;D4S914;MARC_37771-37772:1070384014:1;PCDH7;PCDH7_2161;RH104404;RH70173;RH92605;SHGC-51751;SHGC-67738;SHGC-82015;SHGC-82091;STS-H62404;WI-14915 BH-Pcdh;BHPCDH;FLJ97161 BH-protocadherin (brain-heart);OTTHUMP00000218096;OTTHUMP00000218098;brain-heart protocadherin;protocadherin-7 APPROVED protein-coding ENSG00000169851 8659 04288 602988 REVIEWED 1354208 PCDH19 protocadherin 19 The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] X X q22.1 99433298 99551927 - 99546642 99665271 - 6480464;7240710 22050978;22504056;19214208;18469813;16344560;16261168;15772651;14702039;11549318;10718198;9288105;8889548;5116697;2126489;20713952;12477932;19752159;21053371;20830798;21504426;21519002;21480887;23334464;22946748;21777234;22318606;23066759;22091964;22848613;22949144;23093055 57526 B3KU71;E9PAM6;Q8TAB3 AB037734;ABBA01064170;ABBA01064171;ABBA01064172;ABBA01064173;ABBA01064174;ABBA01064175;ABBA01064176;ABBA01064177;ABBA01064178;ABBA01064179;AK055951;AK096591;AL355593;AL590412;AMYH01022718;BC136628;BM975868;CH471115;CR749278;DA500179;EF676096;NG_021319;NM_001105243;NM_001184880;NM_020766 AAI36629;ABX58058;BAA92551;BAG53333;CAH18133;EAX02804;EAX02805;NP_001098713;NP_001171809;NP_065817;Q8TAB3 Hs.4993 1338955;1340542;1766893;1786674;1853351;1855967;2080370;2170266;2183035;2184343 AFM019TA1;DXS7002E;DXS7486;DXS8020;DXS8034;G13210;REN111392;SHGC-151197;SHGC-152336;WI-14790 DKFZp686P1843;EFMR;EIEE9;KIAA1313 OTTHUMP00000023649;OTTHUMP00000023650;OTTHUMP00000226658;protocadherin-19 APPROVED protein-coding ENSG00000165194 14270 11843 300088;300460 REVIEWED 1312379 PCDH17 protocadherin 17 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] 13 13 q21.1 57103790 57201066 + 58205789 58303065 + 1580863;6480464 17672918;16344560;15489334;15342556;15057823;14702039;12477932;11082270;10835267;10817752;10716726;15905963;16713569;17464717;17978184;18353903;18718692;19449025;20180417;20200074;19945174;21213369;22926751;15604093;22207556;22589738 27253 O14917 ABBA01037015;AF029343;AK001134;AK289980;AK307545;AL137503;AL137505;AL445216;AL445288;AMYH01005147;AMYH01005148;BC028165;BF511144;BP286383;CH471124;DA458702;NM_001040429 AAB84144;AAH28165;BAF82669;EAW52059;EAW52060;EAW52061;NP_001035519;O14917 Hs.106511 1338875;1653894;1663721;1776339;1796462;2124520;2166886;2166888;2182844;5022749;5094981 A006F33;D13S1303;G20769;LOC144997;PCDH17;PCDH17_1260;RH44773;SHGC-30612;SHGC-33151;SHGC-56621;WI-18283 PCDH68;PCH68 OTTHUMP00000018476;protocadherin 68;protocadherin-17;protocadherin-68 APPROVED protein-coding ENSG00000118946 14267 611760 REVIEWED 1342552 PCDHA13 protocadherin alpha 13 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136338665 136468708 + 140242038 140372113 + 140261854 140391929 + 1580863;6480464 15372022;11230163;10835267;10817752;10716726;10662547;10380929;22589738 56136 C9JA99;Q9Y5I0 AB208924;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152309;AF152478;AMYH01015661;CH471062;NG_000016;NM_018904;NM_031865 AAC34314;AAD43703;AAD43739;BAD92161;EAW61986;EAW62008;NP_061727;NP_114071;Q9Y5I0 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR5;CNRN5;CNRS5;CRNR5;PCDH-ALPHA13 KIAA0345-like 1;OTTHUMP00000160014;OTTHUMP00000205581;OTTHUMP00000205582;PCDH-alpha-13;ortholog of mouse CNR5;protocadherin alpha-13 APPROVED protein-coding ENSG00000239389 8667 07554 606319 REVIEWED 1314837 PCDH20 protocadherin 20 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] 13 13 13 q21 42943860 42949698 - 60881819 60887282 - 61983818 61989655 - 1580863;6480464 15489334;14702039;12477932;11082270;10835267;10817752;10716726;8889549;8012384;20834067;21875946;21907864;22359512;23212062 64881 A8K1K9;B3KSZ7;Q8N6Y1 AA040057;ABBA01050232;ABBA01050233;AF169693;AK025871;AK094680;AK289924;AK314607;AL162575;AL592490;AL833830;AMYH01005161;BC027907;CH471124;NM_022843;Z60483 AAF89690;AAH27907;ADZ16004;BAB15265;BAF82613;BAG37177;BAG52909;CAD38690;EAW52085;NP_073754;Q8N6Y1 Hs.391781 1796466;2144518;2185585 1172;PCDH20_1029;STS-N34280 FLJ22218;PCDH13 OTTHUMP00000018487;OTTHUMP00000204661;protocadherin 13;protocadherin-13;protocadherin-20 APPROVED protein-coding ENSG00000197991 14257 614449 VALIDATED 1350988 PCDHA14 protocadherin alpha 14 pseudogene 5 5 5 q31 136317581 136319946 + 140220957 140223319 + 140240773 140243135 + 11230163;10835267;10817752;10716726;10662547;10380929 26307 ABBA01026420;AC005609;AMYH01015661;AY013875;NG_000016 1731303 D5S546 CNR3;CNRN3;CNRS3;CRNR3;PCDH-PSI4 pseudo 2163 VALIDATED 735353 PCDH8 protocadherin 8 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008] 13 13 13 q21.1 34403981 34408646 - 52316110 52320775 - 53418109 53422775 - 1580863;6480464 9787079;18408767;16713569;15489334;12884975;12477932;11230163;10835267;10817752;10716726;10383464;10380929;9315676;22273848;22837378;21900206;22658931;22941331 5100 B4DEQ8;O95206 ABBA01037065;ABBA01037066;AF018664;AF061573;AK293747;AK297652;AL139085;AMYH01005126;AY013873;BC036025;CH471124;NM_002590;NM_032949 AAC70009;AAH36025;AAK21986;ABM84265;BAG57169;BAG60019;EAW52049;EAW52050;EAW52051;NP_002581;NP_116567;O95206 Hs.19492 1710840;1717987;1797956;1854130 PCDH8_2439;RH122610;SHGC-84189;WI-15460 ARCADLIN;PAPC OTTHUMP00000018464;OTTHUMP00000018465;protocadherin-8 APPROVED protein-coding ENSG00000136099 8660 04660 603580 REVIEWED 1314916 PCDH9 protocadherin 9 This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 13 13 13 q21.32 47778636 48706116 - 65774967 66702464 - 66876966 67804468 - 1580863;6480464 16344560;15057823;14702039;12477932;10835267;10817752;10716726;9787079;20379614;19913121;20628086;21552555;22300792;16147992;21875946;22424883;19322201;23064961 5101 Q5VT82;Q9HC56 AB114416;ABBA01050279;ABBA01050280;ABBA01050281;ABBA01050282;ABBA01050283;ABBA01050284;ABBA01050285;ABBA01050286;ABBA01050287;ABBA01050288;AF169692;AI300218;AK054661;AK057768;AL136999;AL138682;AL138814;AL160254;AL355173;AL356305;AL450107;AL603863;AL834258;AMYH01005184;AMYH01005185;AMYH01005186;AMYH01005187;BC136626;BC136627;BC144321;BC150296;BX537422;CH471093;DA278856;NG_011876;NM_020403;NM_203487;R38168 AAF89689;AAI36627;AAI36628;AAI44322;AAI50297;CAD38933;CAD97664;EAW80499;NP_065136;NP_982354;Q9HC56 Hs.654709 1337395;1338961;1339276;1650156;1660405;1664841;1664843;1668205;1668868;1670913;1682203;1689859;1698012;1701210;1704424;1707254;1710816;1711292;1711316;1715179;1715539;1719363;1729618;1738445;1767684;1771180;1773486;1782834;1848192;1849566;1849568;1856682;2111544;2116323;2121394;2128319;2142576;2170888;5017759 70;A002Q15;A005R38;A006D13;D11S851;D13S1231;D13S1268;D13S1317;D13S1488;D13S1509;D13S1824;D13S509E;D13S776;D13S884;G20450;G20719;PCDH9;RH102535;RH104233;RH119840;RH123409;RH123515;RH45841;RH45876;RH46009;RH46139;RH68572;RH94183;SGC30758;SHGC-132849;SHGC-53438;SHGC-53492;SHGC-79223;SHGC-82913;SHGC-84152;SHGC-84897;SHGC-84911;STS-AA017695;STS-U44100 OTTHUMP00000018490;OTTHUMP00000178682;cadherin superfamily protein VR4-11;protocadherin-9 2303085 MAMTS48_H APPROVED protein-coding ENSG00000184226 8661 04661 603581 REVIEWED 1352620 PCDHA10 protocadherin alpha 10 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136312442 136468708 + 140215818 140372113 + 140235634 140391929 + 1580863;6480464 10380929;15372022;11230163;10835267;10817752;10716726;10662547;12477932;17474147;22589738;16344560 56139 Q9Y5I2 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152306;AF152475;AF169689;AMYH01015661;BC130447;DA503193;NG_000016;NM_018901;NM_031859;NM_031860 AAC34317;AAD43700;AAD43736;AAF89329;AAI30448;ADR83338;NP_061724;NP_114065;NP_114066;Q9Y5I2 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR8;CNRN8;CNRS8;CRNR8;PCDH-ALPHA10 KIAA0345-like 4;OTTHUMP00000223681;OTTHUMP00000223682;PCDH-alpha-10;ortholog to mouse CNR8;protocadherin alpha-10 APPROVED protein-coding ENSG00000250120 8664 07328 606316 REVIEWED 732264 PCDHA3 protocadherin alpha 3 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136257560 136468708 + 140160967 140372113 + 140180783 140391929 + 1580863;6480464 19054571;17474147;10380929;15372022;12477932;11230163;10835267;10817752;10716726;10662547;22589738 56145 Q9Y5H8 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152311;AF152481;AMYH01015661;BC069064;BC129807;NG_000016;NM_018906;NM_031497 AAC34323;AAD43705;AAD43742;AAH69064;AAI29808;NP_061729;NP_113685;Q9Y5H8 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T MGC141669;PCDH-ALPHA3 KIAA0345-like 11;OTTHUMP00000223657;PCDH-alpha-3;protocadherin alpha-3 APPROVED protein-coding ENSG00000255408 8669 07321 606309 REVIEWED 1345752 PCDHA12 protocadherin alpha 12 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136331742 136468708 + 140235115 140372113 + 140254931 140391929 + 1580863;6480464 17474147;16303743;15372022;12477932;11230163;10835267;10817752;10716726;10662547;10380929;1380929;22589738 56137 Q9UN75 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152308;AF152477;AK075556;AMYH01015661;AW134813;BC112280;BC113372;DA740785;NG_000016;NM_018903;NM_031864 AAC34315;AAD43702;AAD43738;AAI12281;AAI13373;ADR83261;NP_061726;NP_114070;Q9UN75 Hs.199343;Hs.608548 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T MGC138485;MGC141932;PCDH-ALPHA12 KIAA0345-like 2;OTTHUMP00000223675;PCDH-alpha-12;protocadherin alpha-12 APPROVED protein-coding ENSG00000251664 8666 07330 606318 REVIEWED 1353324 PCDHA7 protocadherin alpha 7 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136290778 136468708 + 140194153 140372113 + 140213969 140391929 + 1580863;6480464 10380929;15372022;11230163;10835267;10817752;10716726;10662547;17474147;21832049;22589738 56141 Q9UN72 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152315;AF152485;AMYH01015661;NG_000016;NM_018910;NM_031852 AAC34319;AAD43709;AAD43746;AAI48657;AAI56821;AAI56894;NP_061733;NP_114040;Q9UN72 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR4;CNRN4;CNRS4;CRNR4;PCDH-ALPHA7 KIAA0345-like 7;OTTHUMP00000223679;PCDH-alpha-7;ortholog to mouse CNR4;protocadherin alpha-7 APPROVED protein-coding ENSG00000204963 8673 07325 606313 REVIEWED 1349379 PCDHA11 protocadherin alpha 11 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136324642 136468708 + 140228015 140372113 + 140247831 140391929 + 1580863;6480464 17474147;10380929;15372022;11230163;10835267;10817752;10716726;10662547;12477932;21139048;22589738;16344560 56138 Q9Y5I1 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152307;AF152476;AJ007609;AMYH01015661;BC136706;BX111117;CH471062;DB349483;NG_000016;NM_018902;NM_031861 AAC34316;AAD43701;AAD43737;AAI36707;CAC22256;EAW61995;EAW62003;NP_061725;NP_114067;Q9Y5I1 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR7;CNRN7;CNRS7;CRNR7;PCDH-ALPHA11 KIAA0345-like 3;OTTHUMP00000223678;PCDH-alpha-11;ortholog of mouse CNR7;protocadherin alpha-11 APPROVED protein-coding ENSG00000249158 8665 07329 606317 REVIEWED 1353159 PCDHA@ protocadherin alpha cluster 5 140146060 140372113 + 10662547;10380929 56117 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T 8662 604966 733347 PCDHA4 protocadherin alpha 4 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136263450 136468708 + 140166856 140372113 + 140186672 140391929 + 1580863;6480464 10380929;16169070;15372022;12477932;11230163;10835267;10817752;10716726;10662547;10612399;22589738 56144 D6RA20;Q9UN74 AB208925;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152312;AF152482;AMYH01015661;AW161561;BC112102;BC113609;NG_000016;NM_018907;NM_031500 AAC34322;AAD43706;AAD43743;AAI12103;AAI13610;ADR83254;BAD92162;NP_061730;NP_113688;Q9UN74 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR1;CNRN1;CRNR1;MGC138307;MGC142169;PCDH-ALPHA4 KIAA0345-like 10;OTTHUMP00000223666;OTTHUMP00000232597;PCDH-alpha-4;ortholog of mouse CNR1;protocadherin alpha-4 APPROVED protein-coding ENSG00000204967 8670 07322 606310 REVIEWED 1315965 PCDHA2 protocadherin alpha 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136251221 136468708 + 140154628 140372113 + 140174444 140391929 + 1580863;6480464 17474147;10380929;15489334;15372022;12665801;12477932;11230163;10835267;10817752;10716726;10662547;22939629;22589738 56146 Q9Y5H9 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152310;AF152480;AMYH01015661;BC003126;NG_000016;NM_018905;NM_031495;NM_031496 AAC34324;AAD43704;AAD43741;AAH03126;NP_061728;NP_113683;NP_113684;Q9Y5H9 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA2 KIAA0345-like 12;OTTHUMP00000223672;PCDH-alpha-2;protocadherin alpha-2 APPROVED protein-coding ENSG00000204969 8668 07320 606308 REVIEWED 1351100 PCDHACT protocadherin alpha constant 5 140338718 140372113 + 10380929;10662547 56119 1341217;1679145;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1855133;2143655;2176290;2179543 D5S1683E;D5S658;IB766;PCDHA4_1031;PMC311048P1;RH118816;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T 8678 1346741 PCDHA8 protocadherin alpha 8 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136297714 136468708 + 140201091 140372113 + 140220907 140391929 + 1580863;6480464 17474147;10380929;15372022;11230163;10835267;10817752;10716726;10662547;12477932;22589738 56140 Q9Y5H6 ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152316;AF152486;AMYH01015661;BC136749;BC136750;NG_000016;NM_018911;NM_031856 AAC34318;AAD43710;AAD43747;AAI36750;AAI36751;NP_061734;NP_114062;Q9Y5H6 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA8 KIAA0345-like 6;OTTHUMP00000223650;PCDH-alpha-8;protocadherin alpha-8 APPROVED protein-coding ENSG00000204962 8674 07326 606314 REVIEWED 1353050 PCDHAC1 protocadherin alpha subfamily C, 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136383115 136468708 + 140286486 140372113 + 140306302 140391929 + 1580863;6480464 10380929;11230163;10835267;10817752;10716726;10662547;12477932;22589738 56135 Q9H158 AA601497;ABBA01026419;ABBA01026420;AC004776;AC010223;AF152303;AF152473;AJ007608;AMYH01015661;AW152471;BC136774;BC136785;CH471062;HY126945;NG_000016;NM_018898;NM_031882 AAD43697;AAD43734;AAI36775;AAI36786;CAC22255;EAW62010;NP_061721;NP_114088;Q9H158 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2219464 A004B11;D5S1683E;D5S658;IB766;PCDHA4_1031;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T PCDH-ALPHA-C1 OTTHUMP00000160003;OTTHUMP00000205579;protocadherin alpha-C1 APPROVED protein-coding ENSG00000248383 8676 07555 606320 REVIEWED 1347310 PCDHA5 protocadherin alpha 5 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136278164 136468708 + 140181545 140372113 + 140201361 140391929 + 1580863;6480464 10380929;15489334;15372022;12477932;11230163;10835267;10817752;10716726;10662547;17474147;22589738 56143 Q59H96;Q9Y5H7 AB208863;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152313;AF152483;AMYH01015661;BC033735;NG_000016;NM_018908;NM_031501 AAC34321;AAD43707;AAD43744;AAH33735;BAD92100;NP_061731;NP_113689;Q9Y5H7 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR6;CNRN6;CNRS6;CRNR6;PCDH-ALPHA5 KIAA0345-like 9;OTTHUMP00000223676;OTTHUMP00000232598;PCDH-alpha-5;ortholog of mouse CNR6;protocadherin alpha-5 APPROVED protein-coding ENSG00000204965 8671 07323 606311 REVIEWED 1343466 PCDHA9 protocadherin alpha 9 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136304162 136468708 + 140207541 140372113 + 140227357 140391929 + 1580863;6480464 17474147;15489334;15372022;12477932;11230163;10835267;10817752;10716726;10662547;10380929;9205841;22589738 9752 Q9Y5H5 AB002343;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152317;AF152487;AJ007610;AK314303;AMYH01015661;BC104802;BC104804;NG_000016;NM_014005;NM_031857 AAC34313;AAD43711;AAD43748;AAI04803;AAI04805;BAA20803;CAC22257;NP_054724;NP_114063;Q9Y5H5 Hs.199343 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464;5014051;5015861;5020274;5022578;5022651;5037552;7185938 A004B11;D10S16;D11S2921;D1S1423;D5S1683E;D5S546;D5S658;D8S2278;D8S2279;IB766;L18441;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T KIAA0345;PCDH-ALPHA9 KIAA0345-like 5;OTTHUMP00000223683;PCDH-alpha-9;protocadherin alpha-9 APPROVED protein-coding ENSG00000204961 8675 07327 606315 REVIEWED 1344704 PCDHA6 protocadherin alpha 6 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136284453 136468708 + 140187834 140372113 + 140207650 140391929 + 1580863;6480464 10380929;15489334;15372022;12477932;11230163;10835267;10817752;10716726;10662547;10612399;21145461;17474147;21139048;22589738;16344560 56142 Q59GA4;Q9UN73 AB209205;ABBA01026419;ABBA01026420;AC005609;AC008468;AC010223;AF152314;AF152484;AF169694;AMYH01015661;BC019862;BC036674;BC042887;BC043441;DA069850;NG_000016;NM_018909;NM_031848;NM_031849 AAC34320;AAD43708;AAD43745;AAF89691;AAH36674;BAD92442;NP_061732;NP_114036;NP_114037;Q9UN73 Hs.199343;Hs.570901;Hs.599714;Hs.621225 1341217;1679145;1718247;1725039;1731303;1735568;1766817;1780942;1780946;1794382;1796468;1853580;1855133;2143655;2176290;2179543;2217698;2219464 A004B11;D5S1683E;D5S546;D5S658;IB766;PCDHA4_1031;PCDHA9_3148;PCDHAC1__5835;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T CNR2;CNRN2;CNRS2;CRNR2;PCDH-ALPHA6 KIAA0345-like 8;OTTHUMP00000223649;OTTHUMP00000232599;PCDH-alpha-6;protocadherin alpha-6 APPROVED protein-coding ENSG00000081842 8672 07324 606312 REVIEWED 1318719 PCDHB1 protocadherin beta 1 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136507763 136510296 + 140411163 140413696 + 140430979 140433512 + 1580863;6480464 12477932;11322959;11230163;10835267;10817752;10716726;10380929 29930 Q9Y5F3 AA448114;ABBA01026419;AC010223;AF152488;AMYH01015661;BC112096;BC112098;CH471062;NG_000017;NM_013340 AAD43749;AAI12097;AAI12099;EAW61985;NP_037472;Q9Y5F3 Hs.278950 1796472 PCDHB1__1201 MGC138301;MGC138303;PCDH-BETA1 OTTHUMP00000160027;PCDH-beta-1;protocadherin beta-1 APPROVED protein-coding ENSG00000171815 8680 08397 606327 REVIEWED 1346435 PCDHAC2 protocadherin alpha subfamily C, 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] 5 5 5 q31 136422531 136468708 + 140326536 140372113 + 140345747 140391929 + 1580863;6480464 10380929;14702039;12477932;11230163;10835267;10817752;10716726;10662547;21906983;22589738 56134 Q6P4R2;Q9Y5I4 ABBA01026419;AC010223;AC010233;AF152304;AF152474;AK123867;AMYH01015661;BC063288;BC104776;BC105111;CH471062;NG_000016;NM_018899;NM_031883 AAD43698;AAD43735;AAH63288;AAI04777;AAI05112;EAW62000;EAW62005;NP_061722;NP_114089;Q9Y5I4 Hs.199343 1341217;1679145;1718247;1725039;1735568;1766817;1780942;1780946;1794382;1796468;1855133;2143655;2176290;2179543 D5S1683E;D5S658;IB766;PCDHA4_1031;PMC311048P1;RH118816;RH122893;RH15971;RH65516;RH91795;SHGC-150174;WI-19540;bac5366T;bac5373T MGC71598;PCDH-ALPHA-C2 OTTHUMP00000160007;OTTHUMP00000205580;protocadherin alpha-C2 APPROVED protein-coding ENSG00000243232 8677 07331 606321 REVIEWED 1343718 PCDHB10 protocadherin beta 10 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136648780 136652035 + 140552136 140555397 + 140571952 140575213 + 1580863;6480464 11322959;12231349;15489334;15340161;14702039;12975309;12477932;11230163;10835267;10817752;10716726;10380929;9110174;8619474;22645275 56126 O95883;Q9UN67 ABBA01026417;AC005752;AF131761;AF152489;AF217748;AK056391;AMYH01015661;AY358720;BC031837;NG_000017;NM_018930 AAD20038;AAD43750;AAH31837;AAK51616;AAQ89082;BAG51694;NP_061753;Q9UN67 Hs.657953 1796470 PCDHB10_1506 PCDH-BETA10;PCHB10 OTTHUMP00000160026;PCDH-beta-10;protocadherin beta-10 APPROVED protein-coding ENSG00000120324 8681 06954 606336 REVIEWED 1346313 PCDHB11 protocadherin beta 11 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136656170 136659440 + 140559532 140562802 + 140579348 140582618 + 1580863;6480464 15489334;11322959;9182820;10380929;12231349;19054571;12477932;11230163;10835267;10817752;10716726 56125 B4DSF7;Q9Y5F2 AB209225;ABBA01026417;AC005752;AF152490;AF217747;AK313428;AMYH01015661;BC112132;BC113611;CH471062;D88795;NG_000017;NM_018931 AAD43751;AAI12133;AAI13612;AAK51615;ADR83269;BAA21565;BAD92462;BAG36220;EAW61972;NP_061754;Q9Y5F2 Hs.283084 5024761;5037552 D8S2279;RH36905 ME2;MGC138337;MGC142171;PCDH-BETA11 OTTHUMP00000160018;PCDH-beta-11;cadherin ME2;protocadherin beta-11 APPROVED protein-coding ENSG00000197479 8682 06955 606337 REVIEWED 1346282 PCDHB17 protocadherin beta 17 pseudogene 5 5 5 q31 136612393 136614803 + 140515764 140518174 + 140535580 140537990 + 6480464 11322959;11230163;10835267;10817752;10716726;10380929;9182820 54661 Q96T98 ABBA01026417;AC005754;AF152527;AF217751;AMYH01015661;D88797;NG_000017;NR_001280 AAK51618;BAA21567 Hs.284307 1725217 RH118901 ME4;PCDH-psi1 pseudo 14547 PROVISIONAL 1349085 PCDHB19P protocadherin beta 19 pseudogene 5 5 5 q31 136696516 136701147 + 140599873 140604504 + 140619689 140624320 + 6480464 11322959;11230163;10716726;10380929 84054 ABBA01026417;AC005752;AF329369;AMYH01015661;AY013876;NG_000017;NR_001282 Hs.570898;Hs.731335 PCDH-PSI5;PCDHB19 pseudo 14549 VALIDATED 1350553 PCDHB12 protocadherin beta 12 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136665115 136668522 + 140568475 140571882 + 140588291 140591698 + 1580863;6480464 10380929;15489334;12477932;11322959;11230163;10835267;10817752;10716726 56124 B4DDU1;Q9Y5F1 ABBA01026417;AC005752;AF152491;AF217746;AK293336;AK316160;AMYH01015661;BC045637;CH471062;NG_000017;NM_018932 AAD43752;AAH45637;AAK51614;BAG56852;BAH14531;EAW61971;NP_061755;Q9Y5F1 Hs.429820;Hs.744755 1670044;1700798 D5S2424;RH104024 PCDH-BETA12 OTTHUMP00000160020;PCDH-beta-12;protocadherin beta-12 APPROVED protein-coding ENSG00000120328 8683 06956 606338 REVIEWED 1353169 PCDHB18 protocadherin beta 18 pseudogene 5 5 5 q31 136690761 136693926 + 140594120 140597285 + 140613936 140617101 + 1580863;6480464 14702039;11322959;11230163;10835267;10817752;10716726;10380929 54660 Q96TA0 ABBA01026417;AC005752;AF152528;AF217743;AK095496;AMYH01015661;NG_000017;NR_001281 AAK51611;BAG53070;Q96TA0 Hs.676071 PCDH-psi2 pseudo ENSG00000146001 14548 PROVISIONAL 1313625 PCDHB13 protocadherin beta 13 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136670333 136673817 + 140573693 140577177 + 140593509 140596993 + 1580863 11322959;12231349;15489334;14702039;12975309;12477932;11230163;10835267;10817752;10716726;10380929 56123 Q9HAB4;Q9Y5F0 ABBA01026417;AC005752;AF152492;AF217745;AK021915;AK292821;AK296151;AMYH01015661;AY358427;BC033068;BC051348;BC071934;CH471062;DC329454;NG_000017;NM_018933 AAD43753;AAH33068;AAH51348;AAH71934;AAK51613;AAQ88793;BAB13935;BAF85510;BAG58890;EAW61970;NP_061756;Q9Y5F0 Hs.283803 1689330;5014039;5016478;5022576 D1S1361;D22S1584;GDB:434012;RH92538 PCDH-BETA13 OTTHUMP00000160015;PCDH-beta-13;protocadherin beta-13 APPROVED protein-coding ENSG00000187372 8684 06957 606339 REVIEWED 1321168 PCDHB15 protocadherin beta 15 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136701975 136704630 + 140605331 140607986 + 140625147 140627802 + 1580863;6480464 10380929;15489334;12477932;11322959;11230163;10835267;10817752;10716726;23000965 56121 Q9Y5E8 ABBA01026417;AC005752;AF152494;AF217742;AI473490;AK312794;AMYH01015661;BC038797;CH471062;NG_000017;NM_018935 AAD43755;AAH38797;AAK51610;ABM84241;ABM87629;BAG35655;EAW61968;NP_061758;Q9Y5E8 Hs.130757 1797958;2131875;2162621 PCDHB15_2562;RH66181;STS-H17959 PCDH-BETA15 OTTHUMP00000160009;PCDH-beta-15;protocadherin beta-15 APPROVED protein-coding ENSG00000113248 8686 06959 606341 REVIEWED 1321102 PCDHB6 protocadherin beta 6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136606652 136609682 + 140510023 140513052 + 140529839 140532868 + 1580863;6480464 11322959;10380929;12231349;11230163;10835267;10817752;10716726 56130 F5H446;Q9Y5E3 ABBA01026418;AC005754;AF152499;AF217752;AK299661;AK313482;AMYH01015661;CH471062;NG_000017;NM_018939 AAD43760;AAI48407;AAI52976;AAK51619;BAG36266;BAG61578;EAW61978;NP_061762;Q9Y5E3 Hs.283085 1685371 RH91958 PCDH-BETA6 OTTHUMP00000160023;PCDH-beta-6;protocadherin beta-6 APPROVED protein-coding ENSG00000113211 8691 07561 606332 REVIEWED 1322463 PCDHB14 protocadherin beta 14 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136679902 136682684 + 140583262 140586044 + 140603078 140605860 + 1580863;6480464 11322959;12231349;15489334;12477932;11230163;10835267;10817752;10716726;10380929;9182820;16344560;23000965 56122 B4DPE2;Q9Y5E9 ABBA01026417;AC005752;AF152493;AF217744;AI206913;AK074555;AK298296;AK301346;AMYH01015661;BC050417;BC098144;BC099728;CH471062;DA103105;DA320459;NG_000017;NM_018934 AAD43754;AAH98144;AAH99728;AAK51612;BAG60554;BAG62894;EAW61969;NP_061757;Q9Y5E9 Hs.658497 MGC120065;PCDH-BETA14 OTTHUMP00000160019;PCDH-beta-14;protocadherin beta-14 APPROVED protein-coding ENSG00000120327 8685 06958 606340 REVIEWED 1343753 PCDHB16 protocadherin beta 16 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136637807 136642623 + 140541164 140545980 + 140560980 140565796 + 1580863;6480464 11322959;12231349;15489334;14702039;12665801;12477932;11230163;10997877;10835267;10817752;10716726;10380929;9182820 57717 O15199;Q9NRJ7 AB046841;ABBA01026417;AC074130;AF217757;AF282973;AI684744;AI926355;AK056460;AMYH01015661;AY013878;BC036062;CA438727;CH471062;D88794;NG_000017;NM_020957 AAF81914;AAG10030;AAH36062;AAK21988;ABW03744;BAA21564;BAB13447;BAG51717;EAW61975;NP_066008;Q9NRJ7 Hs.147674 1682127;1797960;5014063 D15S1390;PCDHB16_1917;RH92429 KIAA1621;ME1;PCDH-BETA16;PCDH3X;PCDHB8a OTTHUMP00000160005;PCDH-beta-16;PCDHbeta 16;cadherin ME1;protocadherin beta 8a;protocadherin beta-16;protocadherin-3x APPROVED protein-coding ENSG00000196963 14546 06961 606345 REVIEWED 1313041 PCDHB3 protocadherin beta 3 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136557046 136560218 + 140460418 140463590 + 140480234 140483406 + 1580863;6480464 11322959;10380929;12231349;12477932;11230163;10835267;10817752;10716726;23000965 56132 Q2M3R2;Q9Y5E6 ABBA01026418;AC005754;AF152496;AF217755;AK313451;AMYH01015661;BC104817;CH471062;HY194184;NG_000017;NM_018937 AAD43757;AAI04818;AAK51622;BAG36239;EAW61981;NP_061760;Q9Y5E6 Hs.508987;Hs.674730 PCDH-BETA3 OTTHUMP00000160022;PCDH-beta-3;protocadherin beta-3 APPROVED protein-coding ENSG00000113205 8688 08398 606329 REVIEWED 1351531 PCDHB@ protocadherin beta cluster 10380929 56116 1670044;1678469;1682127;1685371;1689330;1700798;1703212;1708334;1725217;1789034;1796470;1796472;1797958;1797960;2118805;2131875;2150197;2156409;2162621;2177052 D5S2424;D5S2508;G65651;PCDHB10_1506;PCDHB15_2562;PCDHB16_1917;PCDHB1__1201;RH104024;RH118901;RH47833;RH66181;RH78811;RH80479;RH91958;RH92429;RH92538;SGC32518;SHGC-81568;STS-H17959;WI-21048 8679 604967 1348571 PCDHG@ protocadherin gamma cluster 10380929 56115 8695 604968 1349292 PCDHB8 protocadherin beta 8 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136634257 136636848 + 140537614 140540205 + 140557371 140560081 + 1580863;6480464 16344560;11322959;11230163;10835267;10817752;10716726;10380929;12477932 56128 B9EGV1;Q9UN66 ABBA01026417;AC005754;AC074130;AF152501;AF282973;AMYH01015661;AU119840;BC136801;CH471062;NG_000017;NM_019120 AAD43762;AAG10031;AAI36802;EAW61976;NP_061993;Q9UN66 Hs.283803;Hs.287793 PCDH-BETA8;PCDH3I OTTHUMP00000160021;PCDH-beta-8;protocadherin beta-8;protocadherin-3i APPROVED protein-coding ENSG00000120322 8693 07563 606334 REVIEWED 1316874 PCDHB2 protocadherin beta 2 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136551049 136553776 + 140454421 140457148 + 140474237 140476964 + 1580863;6480464 11322959;10380929;12231349;15489334;14702039;12477932;11230163;10835267;10817752;10716726;21139048;16344560;23000965 56133 Q59ER6;Q9Y5E7 AB209745;ABBA01026418;AC005754;AF152495;AF217756;AK027526;AK314642;AMYH01015661;BC098347;BC098575;BE502304;BF206341;CH471062;DA703023;NG_000017;NM_018936 AAD43756;AAH98347;AAH98575;AAK51623;BAD92982;BAG37204;EAW61983;NP_061759;Q9Y5E7 Hs.533023 MGC111392;PCDH-BETA2 OTTHUMP00000160006;PCDH-beta-2;protocadherin beta-2 APPROVED protein-coding ENSG00000112852 8687 07558 606328 REVIEWED 1345982 PCDHB9 protocadherin beta 9 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136643720 136647939 + 140547077 140551295 + 140566893 140571111 + 1580863;6480464 11322959;12231349;15489334;12477932;11230163;10835267;10817752;10716726;10380929 56127 Q59H00;Q9Y5E1 AB208959;ABBA01026417;AC005752;AC074130;AF152502;AF217749;AF282973;AMYH01015661;BC100672;BC103494;BC105636;BC105640;CH471062;NG_000017;NM_019119 AAD43763;AAF81913;AAG10032;AAI00673;AAI03495;AAI05637;AAI05641;BAD92196;EAW61974;NP_061992;Q9Y5E1 Hs.662726 1797960;5015961;5037552 D15S1477;D8S2279;PCDHB16_1917 MGC119555;MGC119556;PCDH-BETA9;PCDH3H PCDH-beta-9;protocadherin beta-9;protocadherin-3h APPROVED protein-coding 8694 06953 606335 REVIEWED 1312238 PCDHB4 protocadherin beta 4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136578393 136582013 + 140481765 140485385 + 140501581 140505201 + 1580863;6480464 11322959;10380929;12231349;15489334;12477932;11230163;10835267;10817752;10716726;18029348;21890473;16344560 56131 Q9Y5E5 ABBA01026418;AC005754;AF152497;AF217754;AK313640;AMYH01015661;AW135510;BC098139;BC098346;CH471062;DA231000;DA409037;NG_000017;NM_018938 AAD43758;AAH98139;AAH98346;AAK51621;BAG36398;EAW61980;NP_061761;Q9Y5E5 Hs.591250 1789034;2150197 G65651;RH78811 PCDH-BETA4 OTTHUMP00000160017;PCDH-beta-4;protocadherin beta-4 APPROVED protein-coding ENSG00000081818 8689 07559 606330 REVIEWED 1314071 PCDHB7 protocadherin beta 7 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008] 5 5 5 q31 136629070 136632784 + 140532427 140536141 + 140552243 140555957 + 1580863;6480464 12477932;11322959;11230163;10835267;10817752;10716726;10380929;8125298;16344560;23000965 56129 Q9Y5E2 ABBA01026417;AC005754;AF152500;AF217750;AK024641;AK222560;AK222678;AK315054;AL834254;AMYH01015661;BC098574;BC130331;BC130333;CH471062;DA779188;NG_000017;NM_018940 AAD43761;AAH98574;AAI30332;AAI30334;AAK51617;ADR83114;BAD96280;BAD96398;BAG37530;CAD38929;EAW61977;NP_061763;Q9Y5E2 Hs.203830 1708334 SHGC-81568 MGC111391;MGC163205;PCDH-BETA7 OTTHUMP00000160008;PCDH-beta-7;protocadherin beta-7 APPROVED protein-coding ENSG00000113212 8692 07562 606333 REVIEWED 1352537 PCDHGA12 protocadherin gamma subfamily A, 12 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136886980 136969282 + 140790342 140872730 + 140810158 140892546 + 1580863;6480464 9199196;18029348;12975309;11230163;10835267;10817752;10716726;10380929;9628581;21832049 26025 O60330 AB000897;AB011160;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152321;AF152506;AL589367;AMYH01015661;AY358946;CH471062;NG_000012;NM_003735;NM_032094 AAD43715;AAD43767;AAI72309;AAQ89305;BAA21135;BAA25514;EAW61945;EAW61961;NP_003726;NP_115265;O60330 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 CDH21;FIB3;KIAA0588;PCDH-GAMMA-A12 OTTHUMP00000160011;cadherin 21;cadherin-21;fibroblast cadherin FIB3;fibroblast cadherin-3;protocadherin gamma-A12 APPROVED protein-coding ENSG00000253159 8699 07538 603059 REVIEWED 1314555 PCDHB5 protocadherin beta 5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008] 5 5 5 q31 136591612 136594516 + 140494984 140497888 + 140514800 140517704 + 1580863;6480464 11322959;12231349;15489334;14702039;12477932;11230163;10835267;10817752;10716726;10380929;17353931;21139048;16344560;23000965 26167 Q9Y5E4 AA481828;AB209393;ABBA01026418;AC005754;AF134474;AF152498;AF217753;AK023190;AL117449;AMYH01015661;BC001186;CH471062;DA389074;NG_000017;NM_015669 AAD43759;AAH01186;AAK51620;AAP97251;ABM82799;ABM85987;BAD92630;CAB55933;EAW61979;NP_056484;Q9Y5E4 Hs.119693 1678469;2177052 RH80479;WI-21048 DKFZp586B0217;PCDH-BETA5 OTTHUMP00000160016;PCDH-beta-5;protocadherin beta-5 APPROVED protein-coding ENSG00000113209 8690 07560 606331 REVIEWED 1351804 PCDHGA4 protocadherin gamma subfamily A, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136811593 136969282 + 140714952 140872730 + 140734768 140892546 + 1580863 11230163;10835267;10817752;10716726;10380929;16344560 56111 Q9Y5G9 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152324;AF152511;AI805761;AL832028;AMYH01015661;BX100615;CH471062;DA392480;NG_000012;NM_018917;NM_032053 AAD43718;AAD43771;AAI52813;AAI56731;EAW61957;EAW61964;NP_061740;NP_114442;Q9Y5G9 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797964;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A4 protocadherin gamma-A4 APPROVED protein-coding ENSG00000262576 8702 09381 606291 REVIEWED 1353144 PCDHGA1 protocadherin gamma subfamily A, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136787078 136969282 + 140690436 140872730 + 140710252 140892546 + 1580863;6480464 12477932;11230163;10835267;10817752;10716726;10380929;20379614 56114 Q2M273;Q9Y5H4 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152318;AF152507;AMYH01015661;BC112082;BC112084;NG_000012;NM_018912;NM_031993 AAD43712;AAD43768;AAI12083;AAI12085;NP_061735;NP_114382;Q9Y5H4 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790749;1790775;1796474;1796476;1796478;1797962;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_22;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA2_2016;PCDHGA3_1505;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 MGC138287;MGC138289;PCDH-GAMMA-A1 OTTHUMP00000224528;protocadherin gamma-A1 APPROVED protein-coding ENSG00000204956 8696 07551 606288 REVIEWED 1317979 PCDHGA10 protocadherin gamma subfamily A, 10 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136869565 136969282 + 140772927 140872730 + 140792743 140892546 + 1580863;6480464 12477932;11230163;10835267;10817752;10716726;10380929;21628590 56106 Q52LL2;Q9Y5H3 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152319;AF152503;AMYH01015661;BC014509;BC093873;BC093875;CH471062;NG_000012;NM_018913;NM_032090 AAD43713;AAD43764;AAH93873;AAH93875;EAW61935;EAW61965;NP_061736;NP_114479;Q9Y5H3 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2107489;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A10 OTTHUMP00000224538;protocadherin gamma-A10 APPROVED protein-coding ENSG00000253846 8697 09387 606297 REVIEWED 1349153 PCDHGA3 protocadherin gamma subfamily A, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136800426 136969282 + 140703785 140872730 + 140723601 140892546 + 1580863;6480464 12477932;11230163;10835267;10817752;10716726;10380929;20379614 56112 Q59H32;Q9Y5H0 AB208927;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152323;AF152510;AMYH01015661;BC115408;BC115409;BC133708;CH471062;NG_000012;NM_018916;NM_032011 AAD43717;AAD43770;AAI15409;AAI15410;AAI33709;AAI67820;BAD92164;EAW61936;EAW61940;NP_061739;NP_114400;Q9Y5H0 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790749;1790775;1796474;1796476;1796478;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_22;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA3_1505;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 PCDH-GAMMA-A3 OTTHUMP00000225735;protocadherin gamma-A3 APPROVED protein-coding ENSG00000254245 8701 07553 606290 REVIEWED 1349006 PCDHGA11 protocadherin gamma subfamily A, 11 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136877359 136969282 + 140780721 140872730 + 140800537 140892546 + 1580863;6480464 15799819;11230163;10835267;10817752;10737800;10716726;10380929;7566098;12477932;20388442;21875946;16344560 56105 Q9Y5H2 AA329824;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152320;AF152504;AF152505;AMYH01015661;BC136781;BC171774;BE007760;BF327891;CH471062;DA503678;NG_000012;NM_018914;NM_032091;NM_032092 AAD43714;AAD43765;AAD43766;AAI36782;AAI71774;EAW61934;EAW61937;NP_061737;NP_114480;NP_114481;Q9Y5H2 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A11 OTTHUMP00000225710;OTTHUMP00000225711;protocadherin gamma-A11 APPROVED protein-coding ENSG00000253873 8698 09388 606298 REVIEWED 1345135 PCDHGA2 protocadherin gamma subfamily A, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136795180 136969282 + 140698538 140872730 + 140718354 140892546 + 1580863;6480464 12477932;11230163;10835267;10817752;10716726;10380929;20379614;16344560 56113 Q9Y5H1 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152322;AF152508;AL536793;AMYH01015661;BC093871;BC104950;CH471062;DA314472;NG_000012;NM_018915;NM_032009 AAD43716;AAD43769;AAH93871;AAI04951;EAW61941;EAW61954;NP_061738;NP_114398;Q9Y5H1 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790749;1790775;1796474;1796476;1796478;1797962;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_22;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA2_2016;PCDHGA3_1505;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 PCDH-GAMMA-A2 OTTHUMP00000224529;protocadherin gamma-A2 APPROVED protein-coding ENSG00000081853 8700 07552 606289 REVIEWED 1323670 PCDHGA5 protocadherin gamma subfamily A, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136820723 136969282 + 140724082 140872730 + 140743898 140892546 + 1580863;6480464 12477932;11230163;10835267;10817752;10716726;10380929;9182820 56110 O15201;Q9Y5G8 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152325;AF152512;AMYH01015661;BC104926;BC113460;CH471062;D88796;NG_000012;NM_018918;NM_032054 AAD43719;AAD43772;AAI04927;AAI13461;BAA21566;EAW61938;EAW61947;NP_061741;NP_114443;Q9Y5G8 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 CDH-GAMMA-A5;ME3;MGC142020;PCDH-GAMMA-A5 OTTHUMP00000224533;cadherin ME3;protocadherin gamma-A5 APPROVED protein-coding ENSG00000253485 8703 09382 606292 REVIEWED 1343927 PCDHGA6 protocadherin gamma subfamily A, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136830476 136969282 + 140733835 140872730 + 140753651 140892546 + 1580863 12477932;11230163;10835267;10817752;10716726;10380929;22944692 56109 Q59GD1;Q9Y5G7 AB209178;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152326;AF152513;AMYH01015661;BC109240;BC136702;BC136703;BC146651;CH471062;NG_000012;NM_018919;NM_032086 AAD43720;AAD43773;AAI09241;AAI36703;AAI36704;AAI46652;BAD92415;EAW61929;EAW61931;NP_061742;NP_114475;Q9Y5G7 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A6 OTTHUMP00000224534;protocadherin gamma-A6 APPROVED protein-coding ENSG00000253731 8704 09383 606293 REVIEWED 1312946 PCDHGA7 protocadherin gamma subfamily A, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136839290 136969282 + 140742651 140872730 + 140762467 140892546 + 1580863;6480464 11230163;10835267;10817752;10737800;10716726;10380929;12477932;16344560;20467438 56108 Q59H01;Q9Y5G6 AB208958;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152327;AF152514;AMYH01015661;BC136747;BC136748;BF365422;CH471062;DA287863;NG_000012;NM_018920;NM_032087 AAD43721;AAD43774;AAI36748;AAI36749;BAD92195;EAW61943;EAW61963;NP_061743;NP_114476;Q9Y5G6 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A7 OTTHUMP00000224535;protocadherin gamma-A7 APPROVED protein-coding ENSG00000253537 8705 09384 606294 REVIEWED 1321718 PCDHGA8 protocadherin gamma subfamily A, 8 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136848307 136969282 + 140751667 140872730 + 140771483 140892546 + 1580863;6480464 11230163;10835267;10817752;10716726;10380929;9205841;12477932 9708 Q9Y5G5 AB002325;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152328;AF152515;AMYH01015661;BC152415;CH471062;NG_000012;NM_014004;NM_032088 AAD43722;AAD43775;AAI52416;AAI60101;BAA20785;EAW61932;EAW61942;NP_054723;NP_114477;Q9Y5G5 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885;5015619;5022651 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D11S2921;D11S3114;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 KIAA0327;PCDH-GAMMA-A8 OTTHUMP00000225708;protocadherin gamma-A8 APPROVED protein-coding ENSG00000253767 8706 09385 606295 REVIEWED 1347513 PCDHGB6 protocadherin gamma subfamily B, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136864592 136969282 + 140767954 140872730 + 140787770 140892546 + 1580863;6480464 11230163;10835267;10817752;10716726;10380929 56100 Q9H349;Q9Y5F9 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152335;AF152522;AMYH01015661;CH471062;NG_000012;NM_018926;NM_032100 AAD43729;AAD43782;AAI56638;EAW61928;EAW61933;NP_061749;NP_115271;Q9Y5F9 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2107489;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-B6 OTTHUMP00000224537;protocadherin gamma-B6 APPROVED protein-coding ENSG00000253305 8713 09393 606303 REVIEWED 1345022 PCDHGA9 protocadherin gamma subfamily A, 9 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136859342 136969282 + 140762704 140872730 + 140782520 140892546 + 1580863;6480464 12477932;11230163;10835267;10817752;10716726;10380929 56107 Q9Y5G4 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;AC005366;AC005618;AC008781;AF152329;AF152516;AMYH01015661;BC132769;CH471062;NG_000012;NM_018921;NM_032089 AAD43723;AAD43776;AAI32770;EAW61958;EAW61960;NP_061744;NP_114478;Q9Y5G4 Hs.368160 1659064;1682191;1790775;1796476;1796478;1797972;2107487;2107489;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-A9 protocadherin gamma-A9 APPROVED protein-coding ENSG00000261934 8707 09386 606296 REVIEWED 1348107 PCDHGB8P protocadherin gamma subfamily B, 8 pseudogene 5 5 5 q31 136882675 136884647 + 140786037 140788009 + 140805853 140807825 + 6480464 11230163;10835267;10817752;10716726;10380929;20210993 56120 ABBA01026415;AC005618;AF152529;AMYH01015661;NG_000012;NR_001297 Hs.672506 PCDH-PSI3 pseudo 8715 PROVISIONAL 1344510 PCDHGB9P protocadherin gamma subfamily B, 9 pseudogene 5 5 5 q31 136896508 136898811 + 140799874 140802177 + 140819690 140821993 + 11230163;10716726;10380929 84055 ABBA01026412;ABBA01026413;AC005618;AMYH01015661;AY013877;NG_000012 PSI6 pseudo 15688 VALIDATED 1343116 PCDHGB3 protocadherin gamma subfamily B, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136826787 136969282 + 140730146 140872730 + 140749962 140892546 + 1580863;6480464 11230163;10835267;10817752;10716726;10380929;12477932 56102 Q9Y5G1 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152332;AF152519;AMYH01015661;BC150172;CH471062;NG_000012;NM_018924;NM_032097 AAD43726;AAD43779;AAI50173;EAW61951;NP_061747;NP_115268;Q9Y5G1 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-B3 protocadherin gamma-B3 APPROVED protein-coding ENSG00000262209 8710 09391 606301 REVIEWED 1346439 PCDHGB2 protocadherin gamma subfamily B, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136816528 136969282 + 140719887 140872730 + 140739703 140892546 + 1580863 12477932;11230163;10835267;10817752;10716726;10380929 56103 Q9Y5G2 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152331;AF152518;AMYH01015661;BC101805;CH471062;NG_000012;NM_018923;NM_032096 AAD43725;AAD43778;AAI01806;EAW61939;EAW61950;NP_061746;NP_115267;Q9Y5G2 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797966;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA6_2010;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 MGC126854;PCDH-GAMMA-B2 OTTHUMP00000224532;protocadherin gamma-B2 APPROVED protein-coding ENSG00000253910 8709 09390 606300 REVIEWED 1349950 PCDHGB1 protocadherin gamma subfamily B, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136806653 136969282 + 140710012 140872730 + 140729828 140892546 + 1580863 12477932;11230163;10835267;10817752;10716726;10380929 56104 Q3SY74;Q9Y5G3 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152330;AF152517;AMYH01015661;BC103926;BC103927;BC103928;CH471062;NG_000012;NM_018922;NM_032095 AAD43724;AAD43777;AAI03927;AAI03928;AAI03929;EAW61952;EAW61955;NP_061745;NP_115266;Q9Y5G3 Hs.368160 1659064;1682191;1696426;1790741;1790743;1790775;1796476;1796478;1797964;1797966;1797968;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2147111;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D11S2062;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA4_2560;PCDHGA6_2010;PCDHGA9_1502;PCDHGB1__2554;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;SHGC-83354;STS-R97031;T03558 MGC119466;MGC119467;MGC119469;PCDH-GAMMA-B1 OTTHUMP00000224531;protocadherin gamma subfamily B, 1, isoform 2;protocadherin gamma-B1 APPROVED protein-coding ENSG00000254221 8708 09389 606299 REVIEWED 1349122 PCDHGCT protocadherin gamma constant 10380929 56118 8719 1351676 PCDHGB4 protocadherin gamma subfamily B, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136844276 136969282 + 140747636 140872730 + 140767452 140892546 + 1580863 9199196;12477932;11230163;10835267;10817752;10716726;10380929 8641 Q9UN71 AB000896;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;ABBA01026417;AC005366;AC005618;AC008781;AF152333;AF152520;AMYH01015661;BC112088;BC113607;CH471062;NG_000012;NM_003736;NM_032098 AAD43727;AAD43780;AAI12089;AAI13608;BAA21134;EAW61924;EAW61927;NP_003727;NP_115269;Q9UN71 Hs.368160 1659064;1682191;1790741;1790743;1790775;1796476;1796478;1797970;1797972;2107487;2107489;2113570;2117972;2117974;2151044;2155743;2167555;2183885 5q31-33_16;5q31-33_17;5q31-33_24;AF022189;AF022190;AF053066;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB4_2544;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 CDH20;FIB2;MGC138293;MGC142167;PCDH-GAMMA-B4 OTTHUMP00000224536;cadherin 20;cadherin-20;fibroblast cadherin FIB2;fibroblast cadherin-2;protocadherin gamma-B4 APPROVED protein-coding ENSG00000253953 8711 07215 603058 REVIEWED 1316625 PCDHGB5 protocadherin gamma subfamily B, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136854517 136969282 + 140757879 140872730 + 140777695 140892546 + 1580863 12477932;11230163;10835267;10817752;10716726;10380929 56101 Q9Y5G0 ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;ABBA01026416;AC005366;AC005618;AC008781;AF152334;AF152521;AMYH01015661;BC093877;BC093879;CH471062;NG_000012;NM_018925;NM_032099 AAD43728;AAD43781;AAH93877;AAH93879;EAW61922;EAW61948;NP_061748;NP_115270;Q9Y5G0 Hs.368160 1659064;1682191;1790775;1796476;1796478;1797972;2107487;2107489;2113570;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGA10__7046;PCDHGA9_1502;PCDHGB5_v510;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 PCDH-GAMMA-B5 protocadherin gamma-B5 APPROVED protein-coding 8712 09392 606302 REVIEWED 1606685 PCDP1 primary ciliary dyskinesia protein 1 2 2 2 q14.2 113627896 113739842 + 120018515 120130707 + 120302008 120414237 + 18039845;12477932;11181995;18839057;20379614 200373 Q4G0U5 ABBA01045924;AC013275;AC069154;AC104817;AI949948;AK293665;AK304416;AMYH01010988;AV654519;AW611757;BC036530;CH471103;DC417687;NM_001271049;NR_073132;NR_073133 AAH36530;BAG57111;BAG65247;EAW95221;EAW95222;NP_001257978;Q4G0U5 Hs.496753 1651311;1750003 SHGC-111704;WI-17117 MGC33657 OTTHUMP00000203663;OTTHUMP00000203664;primary ciliary dyskinesia protein 1 protein-coding ENSG00000163075 18748 VALIDATED 1346387 PCDHGC4 protocadherin gamma subfamily C, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136941560 136969282 + 140844925 140872730 + 140864741 140892546 + 1580863 18029348;12477932;11230163;10835267;10817752;10716726;10380929 56098 A4FU17;Q9Y5F7 ABBA01026410;AC005366;AC008781;AF152338;AF152525;AMYH01015661;BC042650;BC101035;BC101036;BC101038;CH471062;NG_000012;NM_018928;NM_032406 AAD43732;AAD43785;AAI01036;AAI01037;AAI01039;EAW61946;EAW61949;NP_061751;NP_115782;Q9Y5F7 Hs.368160 1682191;1797972;2107487;2151044;2167555;2183885 AF022190;PCDHGA10_7046;PCDHGC4_2483;RH91455;SHGC-76190;T03558 MGC119489;MGC24978;PCDH-GAMMA-C4 OTTHUMP00000160025;protocadherin gamma-C4 APPROVED protein-coding ENSG00000242419 8717 07317 606305 REVIEWED 1344386 PCDHGB7 protocadherin gamma subfamily B, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136874104 136969282 + 140777466 140872730 + 140797214 140892548 + 1580863;6480464 15489334;12477932;11230163;10835267;10817752;10716726;10380929;9182820 56099 O15203;Q9Y5F8 AA418589;ABBA01026410;ABBA01026411;ABBA01026412;ABBA01026413;ABBA01026414;ABBA01026415;AC005366;AC005618;AC008781;AF152336;AF152523;AMYH01015661;AW057773;BC051788;CH471062;D88799;NG_000012;NM_018927;NM_032101 AAD43730;AAD43783;AAH51788;BAA21569;EAW61923;EAW61944;NP_061750;NP_115272;Q9Y5F8 Hs.368160 1659064;1682191;1790775;1796478;1797972;2107487;2151044;2155743;2167555;2183885 5q31-33_24;AF022190;D5S2538;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;STS-R97031;T03558 ME6;PCDH-GAMMA-B7 OTTHUMP00000225709;cadherin ME6;protocadherin gamma-B7 APPROVED protein-coding ENSG00000254122 8714 06952 606304 REVIEWED 6484507 PCED1CP PC-esterase domain containing 1C, pseudogene 2 q34 213696885 213697649 + 11181995 646249 ABBA01062766;AC093381;AMYH01011477;CH471063;NG_022894 EAW70501 pseudo 44083 INFERRED 1353179 PCDHGC5 protocadherin gamma subfamily C, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136945627 136969282 + 140848992 140872730 + 140868808 140892546 + 1580863;6480464 18029348;12477932;11230163;10835267;10817752;10716726;10380929;21832049 56097 Q2M272;Q9Y5F6 ABBA01026410;AC005366;AC008781;AF152339;AF152526;AMYH01015661;BC112081;BC112083;CH471062;NG_000012;NM_018929;NM_032407 AAD43733;AAD43786;AAI12082;AAI12084;EAW61953;EAW61956;NP_061752;NP_115783;Q9Y5F6 Hs.368160 1682191;2107487;2151044;2167555;2183885 AF022190;PCDHGA10_7046;RH91455;SHGC-76190;T03558 MGC138286;MGC138288;PCDH-GAMMA-C5 OTTHUMP00000160024;protocadherin gamma-C5 APPROVED protein-coding ENSG00000240764 8718 07318 606306 REVIEWED 2293808 PCGEM1 PCGEM1, prostate-specific transcript (non-protein coding) 2 2 2 q32 187209385 187236440 + 193322816 193349870 + 193614571 193641625 + 19186008;16569192;14724589;11050243;20407466;21926974;23453885;23459097 64002 ABBA01062411;AC013401;AF223389;AMYH01011360;NR_002769 Hs.546994 LINC00071;NCRNA00071 APPROVED miscrna ENSG00000227418 30145 605443 PROVISIONAL 1602665 PCED1B PC-esterase domain containing 1B This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 12 12 12 q13.11 46407103 46427485 + 45896319 45916710 + 47610052 47630443 + 6480464 12477932;21044367;17207965;20056006 91523 F8VRF7;F8VUD2;F8VUZ9;F8VYL8;Q96HM7 ABBA01031464;AC008083;AMYH01004426;BC008360;BC016154;BC072670;BM545125;CH471111;CR985281;NM_001281429;NM_138371 AAH08360;AAH16154;ADQ31777;ADZ16086;EAW57925;EAW57926;EAW57927;EAW57928;NP_001268358;NP_612380;Q96HM7 Hs.560100 1712524 G54267 FAM113B;MGC16044 OTTHUMP00000241695;PC-esterase domain-containing protein 1B;family with sequence similarity 113, member B;hypothetical protein LOC91523;protein FAM113B APPROVED protein-coding ENSG00000179715 28255 17513 REVIEWED 6767512 PCED1B-AS1 PCED1B antisense RNA 1 12 q13.11 47602203 47610226 - 14702039;16344560 100233209 AA213858;ABBA01031463;ABBA01031464;AC008083;AK123977;AMYH01004426;DA925061;NR_026544 Hs.657722 5020948;5022450;5022578;5109281 D10S275;D1S1423;D1S1425;G35510 APPROVED miscrna ENSG00000247774 44166 VALIDATED 1349055 PCDHGC3 protocadherin gamma subfamily C, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008] 5 5 5 q31 136932388 136969282 + 140835753 140872730 + 140855569 140892546 + 1580863;6480464 8508762;18029348;16751190;15489334;12477932;11230163;10835267;10817752;10716726;10380929;9865466;9360932;8719883;22249255;21832049;21139048;21988832 5098 Q9BR81;Q9UN70 ABBA01026410;AC005366;AC008781;AF052683;AF052684;AF052685;AF119570;AF152337;AF152524;AMYH01015661;BC004321;BC006439;BC019299;BC026218;BC027451;BC027470;BC063437;BG765565;CH471062;L11371;L11373;NG_000012;NM_002588;NM_032402;NM_032403 AAA36420;AAA75391;AAC08350;AAD43731;AAD43784;AAF03087;AAH04321;AAH06439;AAH19299;AAH26218;AAH27451;AAH27470;AAH63437;ABM84395;ABM87353;EAW61959;EAW61962;NP_002579;NP_115778;NP_115779;Q9UN70 Hs.368160 1682191;1796478;1797972;2107487;2151044;2167555;2183885;5126448 AF022190;PCDHGA10_7046;PCDHGC3__1203;PCDHGC4_2483;RH91455;SHGC-76190;T03558;WI-7264 PC43;PCDH-GAMMA-C3;PCDH2 OTTHUMP00000160013;cadherin-like 2;protocadherin 2;protocadherin 43;protocadherin gamma-C3;protocadherin-2;protocadherin-43 APPROVED protein-coding ENSG00000240184 8716 04693 603627 REVIEWED 1349943 PCGF1 polycomb group ring finger 1 PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008] 2 2 2 p13.1 74563334 74565985 - 74585678 74588329 - 74732170 74734821 - 737633;1580863;6480464 12477932 16943429;17088287;16189514;15620699;15489334;15315754;11287196;18029348;16751776;19690564;17207965;20431927;21139048;21890473;21906983;22325352;22493164 84759 Q9BSM1 ABBA01075602;AC005041;AF087884;AK125742;AL049296;AMYH01010454;BC004952;BU602498;CH471053;NM_032673 AAH04952;AAP97183;ADQ31892;EAW99632;EAW99633;NP_116062;Q9BSM1 Hs.316750 1675630;1687203 RH80457;RH99023 2010002K04Rik;FLJ43754;MGC10882;NSPC1;RNF3A-2;RNF68 OTTHUMP00000160412;RING finger protein 68;nervous system Polycomb-1;polycomb group RING finger protein 1 APPROVED protein-coding 17615 11404 610231 VALIDATED 1350962 PCGF7P polycomb group ring finger 7 pseudogene 19 19 19 p12 22153028 22155150 + 22112718 22114833 + 22320778 22322900 + 253272 ABBA01051403;AC073539;AMYH01009641;NG_003076 1798098 RNF134_1836 RNF134P1 pseudo 30341 INFERRED 1318837 PCED1A PC-esterase domain containing 1A The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012] 20 20 20 p13 2877226 2882587 - 2763971 2769332 - 2815960 2821889 - 6480464 17353931;16189514;15489334;14702039;12601173;12477932;11780052;20056006;15522763;16344560 64773 Q9H1Q7 AA769290;ABBA01053799;AK026029;AK056353;AK124917;AK126535;AK293638;AL161656;AL442086;AMYH01011672;AY211913;BC008864;BC014247;BC037240;BC051816;BE302577;CH471133;DB276752;DC421675;NM_001271168;NM_022760 AAH08864;AAH14247;AAH37240;AAH51816;AAO65166;BAB15328;BAB71160;BAG57093;EAX10567;EAX10568;EAX10569;EAX10570;EAX10571;EAX10572;NP_001258097;NP_073597;Q9H1Q7 Hs.29341;Hs.743644 1657443;1657445 SHGC-34256;STS-R73406 C20orf81;DKFZp547L054;FAM113A;FLJ22376;bA12M19.1 OTTHUMP00000030057;OTTHUMP00000030058;OTTHUMP00000030059;OTTHUMP00000030061;PC-esterase domain-containing protein 1A;chromosome 20 open reading frame 81;family with sequence similarity 113, member A;hypothetical protein LOC64773;protein FAM113A;sarcoma antigen NY-SAR-23 APPROVED protein-coding ENSG00000132635 16212 12786 REVIEWED 1351153 PCGF5 polycomb group ring finger 5 10 10 10 q23.32 86726325 86789872 + 92970349 93034000 + 92922769 93044088 + 737633;6480464 12477932 11256614;16381901;15489336;15489334;14702039;11230166;11076863;8076819;16385451;19273555;21139048;21859857;22325352;22493164 84333 Q86SE9 ABBA01021928;ABBA01021929;ABBA01021930;AC026227;AK055625;AK303014;AL731553;AL832003;AL832496;AMYH01002940;BC007377;BC044910;BC051845;BI464238;BQ420347;BY994354;CB266840;CH471066;NM_001256549;NM_001257101;NM_032373;NR_046310;NR_046435 AAH07377;AAH51845;BAH13878;CAD89905;CAD91165;CAL38502;EAW50112;EAW50113;EAW50114;NP_001243478;NP_001244030;NP_115749;Q86SE9 Hs.500512 1689718;1706720;2157805 RH48822;RH80111;SHGC-81180 MGC16202;RNF159 OTTHUMP00000020085;RING finger protein 159;polycomb group RING finger protein 5;ring finger protein (C3HC4 type) 159 protein-coding ENSG00000180628 28264 17825 VALIDATED 1604812 PCF11 PCF11 cleavage and polyadenylation factor subunit 11 11 11 q13 80177801 80206501 + 82545785 82574484 + 82868137 82896836 + 6480464;6907045 11060040;12226669;18086705;17606639;17081983;16344560;15489334;15302935;12477932;10048485;19110458;16159877;22939629;20360068;19471022;21139048;22751105;23251661;23326517 51585 E9PKN0;E9PNY7;E9PQ01;E9PQF9;O94913 AB020631;ABBA01017363;ABBA01017364;ABBA01017365;AF046935;AF086097;AK025103;AK302606;AMYH01003839;AP000873;BC065384;BC110432;BC146778;CH471076;DB053362;NM_015885 AAC03107;AAH65384;AAI10433;AAI46779;BAA74847;BAH13760;EAW75083;EAW75084;NP_056969;O94913 Hs.128959;Hs.731825 1656405;1670435;1856684;2121016;2149337;2185260;2191115;2219466;5021698 A007H35;MARC_14809-14810:1017254905:1;PCF11__5837;RH11546;RH46125;RH46173;RH78058;WI-11852;ksks262 KIAA0824 OTTHUMP00000234826;PCF11, cleavage and polyadenylation factor II subunit, homolog;PCF11, cleavage and polyadenylation factor subunit, homolog;PCF11p homolog;pre-mRNA cleavage complex 2 protein Pcf11;pre-mRNA cleavage complex II protein Pcf11 APPROVED protein-coding 30097 10592 608876 VALIDATED 1344033 PCGF3 polycomb group ring finger 3 The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 654586 701073 + 689573 754428 + 699573 764428 + 6480464 16344560;15489334;14702039;12477932;21139048;22443383;8125298;22325352;22493164 10336 B3KWT8;B5MEC4;C9J3G7;C9JGV3;C9JYD0;F2Z3P3;Q3KNV8 AA401257;ABBA01019338;ABBA01019339;AC107464;AC139887;AK057124;AK125801;AK225892;AK300290;AL359562;AL832536;AMYH01013839;AMYH01013840;AU132917;BC028026;BC050044;BC061897;BC107061;BI758022;BQ882065;BX640894;BX648409;CA454695;CH471131;CX761238;CX761943;NM_006315 AAI07062;BAG51868;BAG54250;BAG62047;CAD38631;EAW82651;EAW82652;EAW82653;EAW82654;EAW82655;EAW82656;NP_006306;Q3KNV8 Hs.144309;Hs.731755 1644867;1650175;1712659;1789260;1857439;2118777;2145017;2169393;2181847;2184766;5094060;5124227 A006I29;G34948;G65725;RH121994;RH66980;SGC31069;SHGC-24018;SHGC-59165;SHGC-59717;SHGC-67595;SHGC-67747;SHGC-67755 DKFZp686D20235;DONG1;FLJ36550;FLJ43813;MGC129615;MGC40413;RNF3;RNF3A OTTHUMP00000147527;OTTHUMP00000197624;RING finger protein 3A;polycomb group RING finger protein 3;ring finger protein 3 APPROVED protein-coding ENSG00000185619 10066 11515 REVIEWED 1351500 PCLD polycystic liver disease 7240710 5107 8726 174050 1352511 PCGF2 polycomb group ring finger 2 The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008] 17 17 q12 34143676 34158084 - 36890150 36904558 - 6480464 22493164;22325352;22844243;8325509;18706886;17936708;17672918;17545584;17452456;17151361;17145810;16381901;16344560;15489336;15489334;12477932;12196719;12167701;11750047;11520462;11230166;11076863;12183370;16182291;16248985;19585577;20170541;19690564;19636380;19727227;20211142;20444850;21059209;20801102;20717685;21162745;20601937;19395284;22085718;21602890;18211895;19322201;21139048;21890473;21282530;21988832;22954590 7703 J3KSL0;J3KT13;J3QS42;P35227 ABBA01031903;AC006449;AMYH01008367;AU123693;BC004858;BC024255;BX647429;CA421781;CH471152;CS065980;D13969;NM_007144 AAH04858;AAH24255;BAA03074;CAI84554;CAL37647;EAW60527;EAW60528;EAW60529;EAW60530;NP_009075;P35227 Hs.371617;Hs.713595 1695726;1778508;1852458;2154058;2156319;2189515 A007D13;G73130;RH12584;RH17373;RH78331;SHGC-82631 MEL-18;MGC10545;RNF110;ZNF144 DNA-binding protein Mel-18;polycomb group RING finger protein 2;ring finger protein 110;zinc finger protein 144 APPROVED protein-coding ENSG00000056661 12929 10621 600346 REVIEWED 1353848 PCGF6 polycomb group ring finger 6 The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q24.33 98802479 98850828 - 105052543 105100881 - 105062553 105110891 - 6480464 8521824;18519679;18211895;17320162;16248985;15489334;15164054;14702039;12477932;12183370;12167161;11171983;12004135;19549727;19636380;20211142;20946988;22325352;21596310;21139048;21890473;19322201;22493164 84108 Q9BYE7 AB047006;ABBA01063106;ABBA01063107;ABBA01063108;ABBA01063109;ABBA01063110;ABBA01063111;AK027885;AK290679;AK309105;AL591408;AMYH01003025;BC007602;BC010235;CH471066;NM_001011663;NM_032154 AAH07602;AAH10235;ABZ92150;ABZ92535;BAB40779;BAF83368;EAW49647;EAW49648;EAW49649;EAW49650;EAW49651;EAW49652;NP_001011663;NP_115530;Q9BYE7 Hs.741474 1689235;1739571;1798098;2148577 D10S1616;RH11491;RNF134_1836;SHGC-34357 MBLR;MGC15678;MGC17541;RNF134 Mel18 and Bmi1-like RING finger protein;OTTHUMP00000020394;OTTHUMP00000020395;polycomb group RING finger protein 6;ring finger protein 134 APPROVED protein-coding ENSG00000156374 21156 07427 607816 REVIEWED 1321911 PCIF1 PDX1 C-terminal inhibiting factor 1 20 20 20 q13.12 41274773 41288119 + 43996724 44010069 + 44563317 44576662 + 6480464 18294453;15489334;15121856;14702039;12565871;12477932;11780052;17126328;19060906;19682092;21832049;19389623;18029348 63935 B7Z5U5;Q9H4Z3 AB050014;ABBA01052672;ABBA01052673;AK056553;AK299435;AL137473;AL162458;AMYH01011939;BC010005;BC013365;BQ020621;BQ684226;CH471077;NM_022104 AAH10005;AAH13365;ACE87073;ACE87754;BAC45238;BAH13031;CAB70757;EAW75778;EAW75779;EAW75780;NP_071387;Q9H4Z3 Hs.472856 1696538;2141139 SHGC-78139;STS-Z40713 C20orf67 OTTHUMP00000031193;PDX-1 C terminus-interacting factor 1;phosphorylated CTD-interacting factor 1 protein-coding ENSG00000100982 16200 12779 VALIDATED 1347922 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008] 20 20 q13.31 55569543 55574922 + 56136137 56141513 + 1580863;1601241;1601239;1601233;2311645;2302809;2302971;2311641;2302850;2302802;2302970;2311639;2302851;2311640;2311642;2311643;6480464;6484113;6907045;7240710 16620271;16978381;16125296;16271515;18613815;6049928;17651728;4303362;2966075;11440903;19070910;4353083;18443203;17440948;17242918 11851336;14764811;18029348;19329064;19056482;19021757;18996102;18830724;18801732;18660489;18492826;18460190;17495004;17192490;16344560;16341674;16282543;16144962;16132948;15951444;15489334;15046742;14744869;12477932;12324453;12237288;11997389;11780052;11689615;8547315;8490617;8432541;8325643;2993287;1657985;1492743;21145461;19578796;19725958;19913121;20574532;20602615;20628086;20682687;20800603;20098747;21832049;21152065;20691246;20134411;21726808;21906983;21988832;22489460;23149075;23300278 5105 B4DT64;F5GZM4;P35558 ABBA01052930;AI635748;AK290802;AK300072;AK303806;AL035541;AMYH01012013;AW007566;AY794987;BC023978;BJ993061;BM758256;BM768055;BX648510;CH471077;DB187814;L05144;L12760;NG_008205;NM_002591;U31519 AAA02558;AAA60084;AAA91026;AAH23978;AAV50001;ABM84444;ABM87496;BAF83491;BAG61876;BAG64760;EAW75514;EAW75515;NP_002582;P35558 Hs.1872 1772784;2116988;2124241;2216952;2219468;5020835 D20S1148;PCK1__5838;RH64136;SHGC-1372;SHGC-35332;UniSTS:461927 MGC22652;PEPCK-C;PEPCK1;PEPCKC OTTHUMP00000031374;PEP carboxykinase;phosphoenolpyruvate carboxykinase, cytosolic;phosphoenolpyruvate carboxykinase, cytosolic [GTP];phosphoenolpyruvate carboxylase;phosphopyruvate carboxylase 1643038;1643045;1643048;1643054;1643056;1643057;1643059;1643063;1643064;1643071;1643077;1643080;1643085;1643087;1643092;1643095;1643096;2289429;2289431 BW169_H;BW170_H;BW171_H;BW172_H;BW173_H;BW174_H;BW175_H;BW176_H;BW177_H;BW178_H;BW179_H;BW180_H;BW181_H;BW182_H;BW183_H;BW184_H;BW185_H;BW186_H;BW187_H APPROVED protein-coding ENSG00000124253 8724 02028 261680;614168 REVIEWED 6480900 PCMTD1P1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 1 Y 10011453 10011813 + 100874520 ABBA01031171;AC006987;NG_032219 pseudo 38804 INFERRED 4109800 PCMTD1P2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2 16 p11.2 33941646 33942008 + 100287647 ABBA01017806;AC136932;AMYH01007630;NG_028879 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2 pseudo 38805 INFERRED 1601857 PCID2 PCI domain containing 2 PCID2 is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2 (MAD2L1; MIM 601467) (Nakaya et al., 2010 [PubMed 20870947]).[supplied by OMIM, Jan 2011] 13 13 13 q34 94658168 94689275 - 112879927 112910984 - 113831853 113863029 - 6480464 17353931;17672918;16189514;15592455;15489334;15342556;15057823;14702039;12477932;21145461;20870947;16196087;16239144;21987572;21139048;21890473;21906983;22343721;16344560;8889548;21963094;18729074;22505724 55795 Q9NVY1 AA779868;ABBA01019863;AF183426;AI272719;AK000888;AK001185;AK001302;AK002167;AK023313;AK024478;AK098706;AK289462;AK309321;AL136221;AL137002;AMYH01005397;BC008975;BC016614;BC031246;BM932149;BP244753;CH471085;DA058550;NM_001127202;NM_001127203;NM_001258212;NM_001258213;NM_018386 AAG09695;AAH08975;AAH16614;AAH31246;BAA91407;BAA91542;BAA91611;BAA92118;BAB14521;BAB15768;BAF82151;EAX09189;EAX09190;EAX09191;EAX09192;EAX09193;EAX09194;EAX09195;EAX09196;EAX09197;EAX09198;EAX09199;EAX09200;NP_001120674;NP_001120675;NP_001245141;NP_001245142;NP_060856;Q5JVF3 Hs.508769 1855208 SHGC-31881 DKFZp686C20226;F10;FLJ11305;FLJ99362;MGC16774;RP11-98F14.6 CSN12-like protein;OTTHUMP00000018755;OTTHUMP00000018756;OTTHUMP00000018757;OTTHUMP00000018758;OTTHUMP00000018759;OTTHUMP00000018760;OTTHUMP00000018761;PCI domain-containing protein 2 APPROVED protein-coding ENSG00000126226 25653 07749 613713 VALIDATED 4110674 PCMTD1P3 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3 7 7 23749674 23750177 - 23760929 23761429 - 100422595 AACC02000007;ABBA01056716;AC008176;AMYH01017117;CH236948;NG_026445 pseudo 38806 INFERRED 69449 PCLO piccolo presynaptic cytomatrix protein The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 7 7 q11.23-q21.3 82225378 82630133 - 82383321 82792197 - 1580863;6480464 22293360;10508862;19065144;18647954;15489334;12853948;12690205;12477932;12175852;10707984;9847074;9628581;8900486;12473661;14734538;21621269;20567237;20677014;19546850;21185011;19942622;20201926;20351715;20379614;22832909;20980930;20467438;22832399 27445 E9PE96;H7C114;H7C261;Q9Y6U9 AACC02000015;AB011131;ABBA01058081;ABBA01058082;ABBA01058083;ABBA01058084;ABBA01058085;AC004006;AC004082;AC004886;AC004903;AC080093;AC093461;AI692861;AK125999;AK297315;AMYH01017651;AMYH01017652;AMYH01017653;AMYH01017654;AMYH01017655;BC001304;BC108289;BC122565;BC125271;BE538315;BG913494;BX649041;CH236949;CR749552;DN990884;DV080249;DV080679;NM_014510;NM_033026;Y19188 AAB97937;AAD21789;AAH01304;AAI08290;AAI22566;AAI25272;BAA25485;BAC86386;BAG59780;CAB60727;CAH18351;EAL24187;EAL24188;NP_055325;NP_149015;Q9Y6V0 Hs.12376 1669984;1674359;1709046;1723167;1757083;1770582;2115390;2115392;2115788;2130789;2137375;2146897;2152633;2152927;2154511;2162400;2164864;2170677;2174851;5017543 D7S1450;D7S2095E;D7S2121E;D7S2350;D7S2364;D7S758;GDB:1317140;GDB:1317692;GDB:1317962;GDB:1318334;GDB:1318573;PCLO;RH12234;RH123768;SHGC-144472;SHGC-31231;SHGC-56116;SHGC-56120;SHGC-79596;WI-22119 ACZ;DKFZp779G1236 OTTHUMP00000206818;OTTHUMP00000207697;OTTHUMP00000225877;aczonin;piccolo (presynaptic cytomatrix protein);presynaptic cytomatrix protein;protein piccolo APPROVED protein-coding ENSG00000186472 13406 16078 604918 REVIEWED 2312693 PCNA-AS1 PCNA antisense RNA 1 20 20 pter-p12 5170253 5170636 + 5100232 5100615 + 10488129 100302739 ABBA01053874;AL121924;AMYH01011691;NR_028370 1792016 PMC134733P7 PCNA-AS;PCNAAS APPROVED miscrna 37184 PROVISIONAL 1344067 PCNAP proliferating cell nuclear antigen pseudogene X X X p11 50230608 50231590 + 45923729 45924511 + 46038686 46039668 + 2569765 5113 AL034410;NG_000865 pseudo 8731 INFERRED 1345270 PCNAP1 proliferating cell nuclear antigen pseudogene 1 4 4 4 q24 97378957 97380011 - 100300422 100302169 - 100081750 100082804 - 8995762;22309575 359806 ABBA01063672;AMYH01014420;AP002026;CR743211;D17326;NR_028270 Hs.537400 p1PCNA pseudo 8732 VALIDATED 1348291 PCNAP2 proliferating cell nuclear antigen pseudogene 2 4 4 4 q24 97380918 97381054 - 100302174 100303145 - 100083711 100083847 - 8995762;22309575 359805 ABBA01063672;AMYH01014420;AP002026;D17327;NG_002901 pF2PCNA pseudo 8733 VALIDATED 5688492 PCNAP3 proliferating cell nuclear antigen pseudogene 3 X p11.3 45918187 45918963 - 22309575 392454 ABBA01052166;AL034410;AMYH01022247;NG_022595 1680002;1682527;1694688;1744273;2142744;2162779 G43531;GDB:450240;RH68739;RH78927;RH80338;STS-M15796 pseudo 43736 INFERRED 5688491 PCNAP4 proliferating cell nuclear antigen pseudogene 4 11 p15.1 19296076 19296815 - 22309575 390102 ABBA01061037;AC009652;AMYH01003431;NG_021777 pseudo 43737 INFERRED 1322394 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) This gene encodes a member of the phosphoenolpyruvate carboxykinase (GTP) family. The protein is a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of GTP. A cytosolic form encoded by a different gene has also been characterized and is the key enzyme of gluconeogenesis in the liver. The encoded protein may serve a similar function, although it is constitutively expressed and not modulated by hormones such as glucagon and insulin that regulate the cytosolic form. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 14 14 q11.2 23633323 23643179 + 24563483 24573339 + 1580863;2302809;2302851;2302802;2302970;2302971;6480464;6907045;7240710 18613815;4353083;2966075;11440903;6049928 8645161;19587243;18660489;17097062;16132948;15489334;15315819;12916001;12477932;9657976;19521512;20877624;20682687;20797423;21832049;22955269;21733854;19805454;21988832;21139048;21906983 5106 B4DW73;H0YKC4;H0YM31;H0YMA5;H0YML5;H0YMU6;H0YMY3;H0YNG4;H0YNH9;Q16822 ABBA01061330;ABBA01061331;AK129934;AK301400;AK307913;AK311710;AK316206;AL136295;AMYH01005609;BC001454;BU623248;BX248272;CH471078;CR456913;NG_008162;NM_001018073;NM_004563;X92720;Y11484 AAH01454;BAG62935;BAH14577;CAA63380;CAA72272;CAD62600;CAG33194;EAW66115;NP_001018083;NP_004554;Q16822 Hs.75812 1664856;1854337;2178181;2181035;5491242 G27394;MARC_3785-3786:991937600:6;RH17782;RH191;SHGC-34002 PEPCK;PEPCK-M;PEPCK2 OTTHUMP00000164700;OTTHUMP00000164701;PEP carboxykinase;phosphoenolpyruvate carboxykinase [GTP], mitochondrial;phosphoenolpyruvate carboxylase;phosphopyruvate carboxylase APPROVED protein-coding ENSG00000100889 8725 02026 261650;614095 REVIEWED 2303323 PCNPP1 PEST containing nuclear protein pseudogene 1 12 12 12 q24.12 111730221 111733695 - 112104728 112108183 - 112104737 112108183 - 654427 ABBA01019901;AC137055;AMYH01004752;NG_009494 PCNPP APPROVED pseudo 32440 INFERRED 5132814 PCNPP2 PEST containing nuclear protein pseudogene 2 9 9 9 q22.1 62166836 62167353 - 90775622 90776076 - 91585724 91586263 - 100128911 ABBA01016763;AL772202;AMYH01021494;NG_029024 FLJ37523 pseudo 41974 INFERRED 5132815 PCNPP3 PEST containing nuclear protein pseudogene 3 12 12 12 q14.3 65705373 65705756 - 64325552 64326505 - 66038090 66040256 - 729298 ABBA01026584;AC090023;AMYH01004551;NG_029023 pseudo 41975 INFERRED 6481172 PCNPP4 PEST containing nuclear protein pseudogene 4 X 74757383 74757638 - 100874220 AC020717;AMYH01022618;NG_032386 pseudo 41976 INFERRED 5132795 PCNPP5 PEST containing nuclear protein pseudogene 5 13 13 q14.2 29956940 29957423 - 48900511 48902710 - 100507361 ABBA01051006;AL392048;AMYH01005101;NG_029022 KIAA0649 pseudo 41977 INFERRED 733720 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 6 6 q24-q25 150112658 150174249 + 150070831 150132557 + 729481;1580863;6480464 8263531 20471030;17353931;8074695;3355545;1339271;19161160;19110265;18381200;17167531;16256389;15489334;12477932;11912212;11847284;11792715;10496068;10343128;8914929;7592526;3167043;2684970;1998518;1478665;16169070;18029348;18582870;17207965;20800603;19913121;20628086;21163940;22939629;20811636;16196087;19290383;21204776;21372823;21841813;19287380;21081666;21839816;22033921;22735455;21139048;21890473;21906983;22382029;21628590;22990118;21145461;21319273;22647835;22505724 5110 B7Z972;C9J0F2;F8WAV5;F8WAX2;F8WDT3;H7BY58;H7C4X2;J3KP72;Q99625 AA442100;ABBA01025671;ABBA01025672;ABBA01025673;ABBA01025674;AI220702;AK098739;AK129778;AK289724;AK304532;AL355312;AL539512;AMYH01016738;AMYH01016739;AW025538;BC007501;BC008748;BC018569;BE262147;BX438393;CA441980;CH471051;CX786396;D13892;D25545;D25546;D25547;DB478200;DC339361;DC356391;DC421281;M93008;M93009;NM_001252049;NM_001252050;NM_001252051;NM_001252052;NM_001252053;NM_005389;S73902;S73903;S73905;U49740 AAA90933;AAA90934;AAB38386;AAC60639;AAC60640;AAC60641;AAH07501;AAH08748;ADQ32618;BAA02991;BAA05028;BAA05029;BAA05030;BAF82413;BAH14208;EAW47786;EAW47787;EAW47788;NP_001238978;NP_001238979;NP_001238980;NP_001238981;NP_001238982;NP_005380;P22061 Hs.279257 1644947;1652650;1652652;1712328;2116264;2146832;2163574;2217700 A005L39;G20319;G54073;HSC0WD062;PCMT1_4030;RH37416;STS-D13892;STS-T68453 PIMT L-isoaspartyl protein carboxyl methyltransferase;L-isoaspartyl/D-aspartyl methyltransferase;OTTHUMP00000017397;OTTHUMP00000017398;OTTHUMP00000017400;PIMT;protein L-isoaspartyl/D-aspartyl methyltransferase;protein-L-isoaspartate(D-aspartate) O-methyltransferase;protein-beta-aspartate methyltransferase APPROVED protein-coding ENSG00000120265 8728 08908 176851 REVIEWED 1602190 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 8 8 8 q11.23 48720804 48802274 - 52892700 52936350 - 52730140 52811735 - 6480464 15489334;14702039;12477932;21145461;20379614;23505305;23509962;20360068;21139048;19322201 115294 E5RGG7;F5H1M8;H0YBU4;Q96MG8 ABBA01041692;ABBA01041693;ABBA01041694;AC090186;AC103769;AF293366;AK056952;AK304196;AK304332;AL833027;AMYH01018714;BC010693;BC017677;BC032670;BP418683;BX640885;CH471068;NM_052937 AAG10068;AAH10693;AAH32670;BAB71324;BAG65076;BAH14163;CAE45939;CAH56272;EAW86710;EAW86711;EAW86712;EAW86713;NP_443169;Q96MG8 Hs.671268 1674272;1678861;1748733 RH64989;SHGC-110372;STS-N20046 FLJ10883 OTTHUMP00000226249;OTTHUMP00000226250;protein-L-isoaspartate O-methyltransferase domain-containing protein 1 protein-coding ENSG00000168300 30483 08313 VALIDATED 1343290 PCNXL1 pecanex-like 1 (Drosophila) 23690 8735 1349730 PCM1 pericentriolar material 1 The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. [provided by RefSeq, Sep 2010] 8 8 p22-p21.3 17824646 17931737 + 17780366 17887457 + 1580863;6480464;7240710 15107855;17574030;14520415;8120099;19455170;19048012;18772192;18762586;18594780;17081983;16964243;16943179;16894060;16769584;16565220;16424865;16291865;16270321;16189514;16091753;16034466;15805263;15659651;15489334;15345747;15302935;15184884;15144186;14702039;12477932;12403812;11597177;11171385;10980597;10737800;9361024;7698772;22261722;20360304;16712791;11076968;12221128;12852856;16462731;18000879;19447967;20152126;20379614;20468070;7790358;18029348;20734064;15616553;15161933;20360068;21481569;21985783;21998199;22100915;22566634;22586326;21139048;21890473;21906983;21956701;21987572;22118674;23372669;23398456;23455922;21963094;21988832;23000965;23110211;17203973;22505724 5108 A2RUU9;A6NNN6;E5RGQ4;E7ETA6;E7EV56;E7EV93;E9PGW9;H0YBA1;Q15154 AA931266;ABBA01021576;ABBA01021577;ABBA01021578;ABBA01021579;AC087273;AC087625;AF068293;AI810388;AI924817;AK091406;AK295856;AK301727;AK302378;AK307583;AL705025;AL712077;AMYH01018548;AMYH01018549;AW080255;AW237120;AW501568;AX785390;BC000453;BC027477;BC065022;BC133052;BC140946;BF994051;BG898673;BI966701;BQ879089;BU166050;CB157569;CD704264;CH471080;L27841;NG_027690;NM_006197 AAA60120;AAF65182;AAH00453;AAH27477;AAH65022;AAI33053;AAI40947;BAC03656;BAG58662;BAG63193;BAG63697;CAE11958;EAW63796;EAW63797;EAW63798;NP_006188;Q15154 Hs.491148 1298238;1655371;1672544;1694814;1735754;1766747;1851687;2116376;2124552;5037552 AFM333TH1;D8S1365E;D8S2279;D8S261;G43637;RH45791;SHGC-152039;SHGC-37066;WI-13604;WI-19343 PTC4 OTTHUMP00000224566;OTTHUMP00000224569;OTTHUMP00000224570;PCM-1;hPCM-1;pericentriolar material 1 protein;pericentriolar material 1, PCM1 APPROVED protein-coding 8727 02624 188550;600299 REVIEWED 1603975 PCNP PEST proteolytic signal containing nuclear protein 3 3 3 q12.3 99685397 99705556 + 102775732 102795971 + 101293042 101313281 + 6480464 21145461;12176013;14741369;15489334;12477932;8125298;21139048;19322201;21044950 57092 G5E9V9;Q8WW12 AB037675;ABBA01061773;ABBA01061774;AC073861;AK025551;AK098760;AK222978;AK314629;AL110143;AMYH01013360;BC013916;BC022001;BC107796;BX647886;CH471052;CR627371;NM_020357 AAH13916;AAH22001;ABM81725;ABM84879;BAB03501;BAD96698;BAG37194;CAH10470;EAW79790;EAW79791;EAW79792;EAW79793;EAW79794;NP_065090;Q8WW12 Hs.744968 1687437;1689017;1694638;1849479;5015619;5022578;5037552;5092770;5113585 A006B41;D11S3114;D1S1423;D8S2279;G32319;G43493;RH41617;RH64826;RH80630 DKFZp781I24156 OTTHUMP00000214092;PEST proteolytic signal-containing nuclear protein;PEST-containing nuclear protein protein-coding ENSG00000081154 30023 17826 615210 PROVISIONAL 1602160 PCNXL3 pecanex-like 3 (Drosophila) 11 11 11 q13.1 62710511 62731638 + 65140359 65161486 + 65383783 65404910 + 6480464 19124506;15146197;19913121;20628086;20309963;21987572;21139048;21890473;21906983;22505724 399909 Q9H6A9 AA426047;ABBA01024108;AK308625;AMYH01003723;AP001362;BE735110;BU616089;BX640978;CA489689;CN262095;CN281656;CR996285;DY654455;NM_032223 CAE45990;NP_115599;Q9H6A9 Hs.380801 FLJ22427 OTTHUMP00000233355;pecanex-like protein 3 protein-coding ENSG00000197136 18760 VALIDATED 1317411 PCNT pericentrin The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. [provided by RefSeq, Jul 2008] 21 21 q22.3 46568483 46690110 + 47744036 47865682 + 1580863;5131492;6480464;7240710 15380937 15337773;19546241;19251251;19204726;18701509;18174396;18157127;17884020;16565220;16251193;15342556;15094396;14702039;12906865;12477932;12221128;12168954;11171385;10830953;10823944;9455477;8812505;14767062;19191256;18955030;10893222;10753751;22542101;11076968;12852856;16198290;16462731;16980960;19448849;19937158;20508983;7790358;18029348;20567258;20676397;20599736;21270239;19643772;17626165;22990118;21567919;23000965;21139048;21890473;12812986;22184200;22552340;22586326;22505724;22722493 5116 H7C2A3;O95613 AB007862;ABBA01021763;ABBA01021764;ABBA01021765;ABBA01021766;ABBA01021767;ABBA01021768;AF515282;AK024009;AK093923;AK296731;AMYH01012337;AMYH01012338;AMYH01012339;AMYH01012340;AP000335;AP000336;AP000337;AP000471;AP001477;AW452809;BC035913;BP311784;BP312870;CH471079;DC345793;HI574036;NG_008961;NM_006031;U52962 AAD10838;AAH35913;AAP46636;BAA23698;BAB14772;BAC04252;BAG59318;CBX47507;EAX09277;EAX09278;EAX09279;EAX09280;EAX09281;NP_006022;O95613 Hs.474069 1732041;1753433;2110633;2156805 D21S1272;PCNT2__7047;SHGC-107233;SHGC-87720 KEN;MOPD2;PCN;PCNT2;PCNTB;PCTN2;SCKL4 OTTHUMP00000115827;kendrin;pericentrin;pericentrin (kendrin);pericentrin B;pericentrin-2;pericentrin-380;pericentrin-B APPROVED protein-coding ENSG00000160299 16068 05804 210720;605925 REVIEWED 1313858 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 20 20 20 q13.33 59571881 59592247 + 62357492 62378023 + 62887048 62907579 + 6480464 16344560;15489334;14702039;12477932;11780052;10470851;21145461;18187417;21890473;21906983;22645275 55251 F8W9F3;Q9NV79 ABBA01018572;AK001745;AK074436;AK126700;AL121581;AL137028;AMYH01012104;BC032332;BC033665;BC040945;BC045775;CA443672;CH471077;DB224815;NM_001104925;NM_018257 AAH32332;AAH33665;AAH40945;AAH45775;BAA91877;BAC86648;EAW75152;EAW75153;EAW75154;NP_001098395;NP_060727;Q9NV79 Hs.279562 1681016;1684596;1698764;5015961;5109281 D15S1477;D1S1425;D20S535E;RH102945;RH38993 C20orf36;FLJ10883;KIAA0835;KIAA1050 OTTHUMP00000031648;chromosome 20 open reading frame 36;protein-L-isoaspartate O-methyltransferase domain-containing protein 2 protein-coding ENSG00000203880 15882 12764 VALIDATED 6768929 PCOLCE-AS1 PCOLCE antisense RNA 1 7 q22.1 100187024 100201661 - 14702039 100129845 AACC02000084;ABBA01013198;AC069281;AC099394;AK097705;AK298216;AMYH01017739;CH236956;CK903811;NR_038910 BAG60486 Hs.714123 APPROVED miscrna ENSG00000224729 40430 VALIDATED 1353951 PCOS1 polycystic ovary syndrome 1 7240710 5120 8741 1605048 PCNXL2 pecanex-like 2 (Drosophila) 1 1 1 q42.2 206390263 206701642 - 231186505 231498082 - 233119882 233431459 - 6480464 14702039;12477932;12140758;9455477;21490949;20379614;19913121;20628086 80003 A6NKB5;B3KNZ5;E7EVZ6;H0YAR6;H0YAV6;H0YB15;H0YB30;H0YBD1;H0YBD6;H0YBF4 AB007895;ABBA01033073;ABBA01033074;ABBA01033075;AK021445;AK055374;AK074078;AK090784;AK092353;AK097229;AK307812;AL122003;AL133289;AL133291;AL133380;AL139342;AL359819;AMYH01001828;AMYH01001829;BC008300;BC014639;CH471098;CT004972;DR731333;NM_014801 A6NKB5;AAH08300;BAA23708;BAB13826;BAB84904;BAG51507;BAG52229;EAW69982;EAW69983;EAW69984;EAW69985;EAW69986;NP_055616 Hs.370605 1648388;1648524;1659062;1672977;1692024;1692548;1693212;1701666;1706562;1722575;1768268;2116176;2120260;2130148;2139755;2148412;2157774;2166387;2169942 AFMa111yd5;AL009455;AL009482;AL009875;AL010076;AL033559;AL033664;AL034050;D1S1752E;D1S3542;G16238;G31203;G60219;RH104503;SHGC-76539;SHGC-76583;SHGC-81260;STS-T54340;WI-14930 FLJ11383;KIAA0435 OTTHUMP00000036003;pecanex-like protein 2 protein-coding ENSG00000135749 8736 15108 PROVISIONAL 732094 PCNA proliferating cell nuclear antigen The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008] 20 20 pter-p12 5043599 5055268 - 5095599 5107268 - 1580863;2315007;2315009;2315011;2315013;2315014;2315012;2306716;2315010;729592;2315008;2292498;6480464;6907045;7246931;7246932 11869017;10533299;9143022;8098267;8102204;7474604;18157157;10374321;12099899;11369057;18000229;17512402;23545418 20211058;21880767;22457066;12786946;12782299;12766176;12633936;12632497;12532471;12522211;12515622;12479101;12477932;12452062;12452045;12439914;12403614;12393188;12390713;12382578;12368291;12354094;12237462;12226657;12220650;12171929;12125971;12088102;12081642;12063248;12045192;12015309;11994305;11986310;11968016;11929879;11896603;11877408;11864421;11805113;11784855;11780052;11741962;11724965;11682605;11601988;11595739;12930846;12893285;11593007;11585903;11578332;11559705;11554927;11430825;11411798;11376153;11313979;11310559;11274057;11268218;11254741;11239001;11092888;11077446;11022036;8103281;8101826;8093561;7973727;7949095;7908906;7821789;7673244;7673186;7478510;2882507;2882422;2569765;1979311;1975809;1477073;1313560;15050687;18162470;18162579;12853968;16189514;11350925;18954305;9443979;8259215;12192049;10353443;10888872;10973963;7784094;10858286;11302688;7780738;9178907;9705499;8647134;9632134;8662825;12124778;9546435;9467962;19125419;19104052;19067003;19012493;19001268;18949048;18948756;18853184;18845679;18799611;18794347;18765913;18719106;18676680;18669164;18662981;18604718;18521065;18509272;18498247;18481002;18451105;18448427;18353733;18326858;18321066;18319261;18316726;18312749;18284681;18256758;18184650;18072009;18032376;17982625;17932049;17880707;17720188;17564317;11005803;9305916;15225546;15358233;2565339;9111189;15504738;9822671;11473323;15494374;19424044;19342888;19339270;19237606;19221475;19208623;19156526;19130399;17525639;17507928;17274954;17203305;17167529;17164758;17115032;17108083;17106521;17063386;16934511;16888766;16888649;16888288;16861906;16861890;16710452;16609022;16584090;16552335;16551699;16510448;16508013;16438930;16407252;16407242;16388758;16227586;16226749;16216562;16216273;16204460;16201313;16195237;16124066;16101161;16000169;15967114;15805117;15777783;15772596;15754413;15681588;15647383;15638382;15638377;15635413;15617346;15616578;15595847;15572421;15543136;15536154;15489334;15359278;15342632;15221970;15161643;15149598;15107487;15033825;15000866;14871894;14871261;14729473;14669354;14657243;14642618;14612290;12964161;12947108;12937166;10978339;10930425;10871373;10828065;10648606;10559261;10463569;10455148;10408173;10393198;10219083;10051561;9927044;9751713;9667749;9570268;9566895;9563011;9552415;9545252;9465025;9396813;9302295;9228079;9092549;9087533;8999859;8995762;8876181;8861969;8861913;8858149;8673466;17669698;18931444;20385554;20580447;21967848;22318606;22556262;22606318;22617335;20460379;16248462;16512489;17285972;19483288;20129063;20147293;21383955;10477523;14558955;15924676;16174846;16482215;16616141;16763556;16826239;16964240;17148452;17274640;17298749;17395554;17588519;17927850;17955473;18279620;19170196;19351509;19419956;19460716;19481339;19523882;19536092;19550124;19625176;19628465;19692168;19704162;19789190;19822659;19885588;19950226;20004149;20029092;20061190;20064529;20071335;20085707;20128380;20150366;20226869;20350215;20394503;20453000;20496165;20522537;19443450;15327775;18263614;18510217;20803149;18839537;20580881;20729856;21035370;18029348;19730436;20826785;16357261;16611994;19834596;19845771;20823236;20932471;16463680;20528769;20733054;20613874;20849852;20423048;19714462;20574454;17828505;19851886;16082198;16226712;16362051;16474839;18499658;20975039;21220508;20457750;21424069;21461937;14988403;18166648;20603015;20675655;20937699;12361598;22863883;9545286;9649448;12857440;22846997;15831485;22393258;23317197;23703321;22966418;23277426;20543468;19895739;18082604;19995904;20302655;20303835;21209461;17342744;19895794;20227374;20606006;21149733;21845734;21855803;21875946;21344488;16531995;21364740;21031434;21738398;16196087;18086887;20159558;20541997;20940144;21167178;21254647;21858012;16288740;22939629;20848772;21628590;11328591;15852347;20305653;21694464;22021614;22157819;21227930;21996408;12400013;14676842;15576034;18781797;20605778;20639865;21396873;21415862;21690293;21725088;21791603;21987572;22178446;22199292;22203964;20360068;20600238;21045206;21081666;21536034;21605556;21640107;21704031;21846465;21952639;22362778;22387026;21935871;17720710;21139048;21549307;21890473;21906983;22148433;22157815;22232658;22238610;22303007;22086303;22383522;22592530;22681887;22529391;21978893;22145905;7903056;22057681;22334915;19595719;20129057;21371741;21664290;22456510;22586102;22692198;10022118;21255825;23152873;23345618;16982685;18245774;19285961;19505873;21145461;21319273;22451935;22894931;22902628;22381917;22520514;22704558;22705370;23139781;23485469;18562274;19738201;21963094;21988832;22304920;22622474;22902626;22980979;23000965;23248005;7911228;8668533;22623772;12750383;21504906;21853274;22053931;22505724;22763828;22797925;22987070;22989887;23042605;23042607;22634751 5111 P12004;Q7Z6A3 ABBA01053874;AF527838;AK300558;AK313286;AL121924;AMYH01011691;AY310162;AY310163;AY310164;AY310165;BC000491;BC062439;BG612192;BU626265;CB990423;CH471133;CR536501;CR541799;D28458;J04718;J05614;M15796;NM_002592;NM_182649 AAA35736;AAA60040;AAH00491;AAH62439;AAM78556;AAP58729;AAP58730;AAP58731;AAP58732;ABM82329;ABM85507;BAA05824;BAG36094;BAG62264;CAG38740;CAG46598;EAX10428;EAX10429;EAX10430;NP_002583;NP_872590;P12004 Hs.147433;Hs.744934 1680002;1682527;1694688;1744273;1792016;2142744;2162779 G43531;GDB:450240;PMC134733P7;RH68739;RH78927;RH80338;STS-M15796 MGC8367 DNA polymerase delta auxiliary protein;OTTHUMP00000030189;OTTHUMP00000030190;cyclin;proliferating cell nuclear antigen APPROVED protein-coding ENSG00000132646 8729 01456 176740 REVIEWED 1314709 PCP2 Purkinje cell protein 2 19 19 19 p13.2 7567691 7569754 - 7602507 7604570 - 7696507 7698570 - 737633;6480464 12477932 16298104;15489334;12399102;10196137;17215137;18768681 126006 M0R2R7;Q8IVA1 ABBA01010893;AC008763;AK130855;AMYH01009410;AY091633;BC025387;BC038715;BX281028;BX647746;CH471139;NM_001271830;NM_174895 AAH25387;AAH38715;AAN52488;EAW69019;NP_001258759;NP_777555;Q8IVA1 Hs.591400 DKFZp686M0187;FLJ27345;GPSM4;L7;MGC41903 Purkinje cell protein 2 homolog;Purkinje cell-specific protein L7 protein-coding ENSG00000174788 30209 18723 VALIDATED 1352404 PCNX pecanex homolog (Drosophila) 14 14 14 q24.2 51437700 51645359 + 70443875 70651852 + 71374122 71582099 + 1580863;6480464 19240061;15777640;15489334;14702039;12508121;12477932;12168954;10231032;9872452;9244429;20379614;19336002;22004471;21139048;21906983;22881374 22990 B2RTR6;H0YJ76;H0YJ91;H0YJZ0;Q96RV3 AB018348;AB023212;ABBA01030800;ABBA01030801;ABBA01030802;ABBA01030803;ABBA01030804;ABBA01030805;AC004817;AC004825;AC005230;AF233450;AK027062;AK127570;AL445903;AMYH01005834;AMYH01005835;AW137672;BC017076;BC033122;BC140784;BC152474;BC167161;CH471061;NM_014982 AAH17076;AAH33122;AAI40785;AAI66691;AAK82958;BAA34525;BAA76839;BAG54525;EAW81052;EAW81053;EAW81054;EAW81055;NP_055797;Q96RV3 Hs.446559 1338056;1645145;1646467;1663416;1670666;1683006;1701330;1740765;1769361;1786424;1851866;1853511;2116198;2128564;2131944;2139252;2141383;2144170;2147868;2149500;2153401;2162830;2179242;2183849;2184071;5014057;5109281;5118800 D11S3663;D14S1207;D14S289;D1S1425;D1S3699;G35392;G35793;G35804;G36024;G36095;G38083;G38093;G38094;G38119;G38296;G38297;G38299;HSC2CG042;RH104295;RH41977;RH65411;RH68706;RH70103;RH78766;RH92370;SGC44464;SHGC-172022;SHGC-44464 FLJ23409;FLJ45663;KIAA0805;KIAA0995;PCNXL1 OTTHUMP00000245529;OTTHUMP00000245530;OTTHUMP00000245531;pecanex-like 1;pecanex-like protein 1 protein-coding ENSG00000100731 19740 10139 VALIDATED 733466 PCOLCE procollagen C-endopeptidase enhancer Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008] 7 7 q22 100037818 100043734 + 100199882 100205798 + 1580863;6480464 12393284;7523404;19361460;18350290;18164932;17602227;17446170;16507574;15817489;15489334;12670942;12486138;12477932;12393877;21569766;12105202;10625689;9933570;9799793;8824813;19801683;20207734;20729553;22990118;21940633;23550162 5118 Q15113 AACC02000084;AB008549;ABBA01013198;AC099394;AF083655;AK298364;AK313748;AMYH01017739;AMYH01017740;BC000574;BC033205;BI837971;CH236956;CH471091;L33799;NM_002593 AAA61949;AAD16041;AAH00574;AAH33205;ABM82849;ABM86034;BAA23281;BAG36488;BAG60606;EAL23825;EAW76515;NP_002584;Q15113 Hs.202097 1676754;1677522;1735662;2174547 D7S2120E;PCOLCE;RH79682;RH98230 PCPE;PCPE-1;PCPE1 OTTHUMP00000210409;PCPE-1;procollagen C-endopeptidase enhancer 1;procollagen C-proteinase enhancer 1;procollagen COOH-terminal proteinase enhancer 1;procollagen, type 1, COOH-terminal proteinase enhancer;type 1 procollagen C-proteinase enhancer protein;type I procollagen COOH-terminal proteinase enhancer APPROVED protein-coding ENSG00000106333 8738 02603 600270 REVIEWED 1348042 PCNXL4 pecanex-like 4 (Drosophila) 14 14 14 q23.1 40608145 40651366 + 59628382 59671285 + 60558629 60601532 + 6480464 12477932;11230166;14702039;18029348;16237761;16189514;15489334;17043677 64430 B3KMY6;B5MC47;B6ZDM2;H0YIY3;H0YJ84;H0YJN3;H0YJV9;H9KV87;Q63HM2 AA651916;ABBA01018278;AK022861;AK023008;AK095489;AL136581;AL157911;AL163853;AMYH01005766;AY553876;BC030714;BC033843;BX648440;CH471061;NM_022495 AAH33843;AAS64574;BAB14277;BAG51148;CAB66516;CAH56141;EAW80768;NP_071940;Q63HM2 Hs.509499 1645321;1855072;2181195 RH46903;RH68606;SHGC-57893 C14orf135;FBP2;FLJ12799;FLJ38170 HCV F protein-binding protein 2;HCV F-interacting protein;OTTHUMP00000197211;OTTHUMP00000197212;OTTHUMP00000197214;hepatitis C virus F protein-binding protein 2;pecanex-like protein 4;pecanex-like protein C14orf135 APPROVED protein-coding ENSG00000126773 20349 16604 VALIDATED 1346123 PCOLCE2 procollagen C-endopeptidase enhancer 2 3 3 3 q21-q24 140960205 141031522 - 144019401 144090624 - 142536702 142608045 - 1580863;6480464 16303743;15489334;15340161;12975309;12477932;12393877;12063410;11597177;10873381;8125298;16344560;19237735 26577 C9JYX9;H7C520;H7C5D5;Q9UKZ9 ABBA01059021;ABBA01059022;AC021074;AF098269;AK075478;AK223633;AK315121;AMYH01013548;AY035400;AY358557;BC006265;CD366192;CH471052;CR536570;DA555576;DQ173439;DQ173455;DQ173477;DQ173478;DQ173479;DQ173480;DQ173483;DQ173484;DQ173485;DQ173489;DQ173491;DQ173492;NM_013363 AAF04621;AAI52797;AAK63128;AAQ88921;BAD97353;BAG37576;BAG52150;CAG38807;EAW78961;EAW78962;NP_037495;Q9UKZ9 Hs.8944 1735180;2140874;2143306;2153683;2171219 D3S2824E;D3S4174;G16602;RH12324;SHGC-33034 PCPE2 OTTHUMP00000214783;OTTHUMP00000214784;procollagen C-endopeptidase enhancer 2;procollagen C-proteinase enhancer 2;procollagen COOH-terminal proteinase enhancer 2 protein-coding ENSG00000163710 8739 06139 607064 VALIDATED 734345 PCSK1 proprotein convertase subtilisin/kexin type 1 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin, prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is associated with carcinoid tumors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] 5 5 q15-q21 95751875 95794708 - 95726040 95768985 - 737721;1601274;1580863;1357926;1642015;1357925;2308889;2308918;2308934;2308929;2308931;2308899;2308900;2308935;2308905;2308932;1600414;1601276;2308898;2308919;2308920;2308930;2298715;2308904;6480464;6483567;7240710 12145326;9207799;11874690;12809692;15189116;15291740;9015327;16938896;19034419;17698597;17131142;14630714;8666140;11730986;18448419;16926379;16497799;17630003;7883951;7925129;18941442;12475375;12411741;16337011 8397508;19164386;18604207;18549351;18096669;17990211;17917309;17595246;16644867;16293189;15807527;15127203;15126519;14617756;14614908;14574455;12715715;12477932;12147787;12147786;12126783;11739459;11720250;11435430;11246872;10931181;10900462;10771309;10530621;10391209;10087454;9521468;9213372;8916141;8557106;7797529;3542996;3053705;2061332;1765368;1605851;1597471;1547893;8995623;8940009;8163529;7639757;11113628;20734064;10037747;16344560;16928730;19339735;19528091;19628676;19641380;19875984;19876004;20106974;20498726;20534142;19913121;20571754;20628086;4368999;22737226;21030982;22000902;22210313;21720444;21935364;21873549;22344219;22552345;22581228;23383060;23001567;22592666 5122 D6RJA3;P29120 AB208874;ABBA01069234;AC008951;AC108107;AK303888;AK308575;AMYH01015490;AMYH01015491;BC031211;BC130295;BC136486;CH471084;D73407;DA192592;M90753;NG_021161;NM_000439;NM_001177875;NM_001177876;U24128;X64810 AAA59918;AAA73788;AAI30296;AAI36487;BAA11133;BAD92111;BAH14073;CAA46031;EAW96062;EAW96063;NP_000430;NP_001171346;NP_001171347;P29120 Hs.78977 1676017;1690065;1700160;1720645;1720933;1750067;1796480;2126238 G59132;G59296;PCSK1_1012;RH103693;RH81073;RH92225;SHGC-112327;STS-X64810 BMIQ12;NEC1;PC1;PC3;SPC3 NEC 1;OTTHUMP00000151175;OTTHUMP00000222725;neuroendocrine convertase 1;prohormone convertase 1;prohormone convertase 3 2289249 BW90_H APPROVED protein-coding ENSG00000175426 8743 01201 162150;600955;612362 REVIEWED 731616 PCP4 Purkinje cell protein 4 21 21 21 q22.2 26436822 26498803 + 40161217 40223192 + 41239347 41301322 + 1580863;6480464 8914602;16780588;23204517;15489334;14551202;12477932;10830953;9697113;9345904;8931698;20379614;20494980;21491429;21044950;21565611 5121 F6SSA2;P48539 ABBA01009329;ABBA01009330;ABBA01009331;AF064857;AF416716;AK289964;AL163281;AM183336;AMYH01012253;BC013791;BQ287895;CH471079;CR450319;NM_006198;U52969;U53707;U53708;U53709;X93349 AAB09033;AAC00024;AAC23994;AAH13791;AAL16810;BAF82653;CAA63724;CAB90443;CAG29315;CAJ70630;EAX09622;EAX09623;EAX09624;EAX09625;NP_006189;P48539 Hs.80296 2109631;2114997;2115235;2124264;2143956 PCP4_8524;SHGC-18172;SHGC-31654;SHGC-52046;WI-14954 PEP-19 OTTHUMP00000109191;Purkinje cell protein 4;brain specific polypeptide PEP19;brain-specific antigen PCP-4;brain-specific polypeptide PEP-19 protein-coding ENSG00000183036 8742 03378 601629 VALIDATED 1602138 PCP4L1 Purkinje cell protein 4 like 1 1 1 1 q23.3 134295731 134322384 + 159495141 159521864 + 161228517 161255240 + 6480464 12477932;19284880;16710414;15489334;15146197;15053978;22589738 654790 A6NKN8 ABBA01016594;ABBA01016595;ABBA01016596;AL590714;AL592295;AMYH01001457;BC028905;BC067884;BC147003;BC147004;CD237602;CN283207;NM_001102566 A6NKN8;AAI47004;AAI47005;NP_001096036 Hs.433150 1720599;1781408;5121247 G59106;RH78663;SHGC-111073 IQM1 OTTHUMP00000223330;PCP4-like protein 1;Purkinje cell protein 4-like protein 1 protein-coding ENSG00000248485 20448 VALIDATED 737617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor Members of the subtilisin-like proprotein convertase family process latent precursor proteins into their biologically active products. The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. [provided by RefSeq, Nov 2012] X X X p11.23 52969569 52974023 + 48574450 48578904 - 48689506 48693960 - 69973;1580863;1642360;1642350;1642351;1642352;6480464 10632593;14746899;15012590;11680901;17412804 15489334;12914799;12477932;11719503;11435430;18948394 27344 Q9UHG2 AA706516;ABBA01046069;AC231533;AF181562;AF196971;AMYH01022290;BC002851;BC094731;CH471224;HY114016;NM_013271 AAF22643;AAH02851;ABM84451;EAW50742;NP_037403;Q9UHG2 Hs.522640 1687387 RH93778 PROSAAS;SAAS OTTHUMP00000032426;granin-like neuroendocrine peptide;pro-SAAS;proSAAS;proprotein convertase 1 inhibitor APPROVED protein-coding ENSG00000102109 17301 02320 300399 REVIEWED 1604066 PCSK6 proprotein convertase subtilisin/kexin type 6 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can cleave precursor protein at their paired basic amino acid processing sites. Some of its substrates are - transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 q26.3 99661656 99847710 - 101844133 102030187 - 6480464 22440827;12535616;8615794;8218226;12787574;10467177;8906861;18772886;18671934;17909005;17825503;17707572;16433634;15043778;14561729;12805404;12477932;12463163;11736660;11380615;8179631;7980617;1741956;11063880;9521771;8995442;8940009;8670066;10900462;10467164;10215603;10050053;10037747;9738469;9378725;9242664;9192737;19339735;20379614;19913121;20628086;21051773;21078624;21890473;21722156;18061232 5046 E7EM82;E7EQ62;E7EWH5;H0Y3Q0;H0YKK2;H0YKZ4;H0YLC8;H0YMW5;H7BXT3;Q9UEJ9 AB001914;AB208955;ABBA01020523;ABBA01020524;AC023024;AC087528;AI478762;AM491522;AMYH01006975;AW137040;BC043562;BX428035;BX649058;CH471101;D28513;D87993;D87994;D87995;M80482;NG_030047;NM_002570;NM_138319;NM_138320;NM_138321;NM_138322;NM_138323;NM_138324;NM_138325 AAA59998;BAA05871;BAA21620;BAA21621;BAA21622;BAA21623;BAA21624;BAA21625;BAA21626;BAA21627;BAA21791;BAA21792;BAA21793;BAD92192;CAM33226;EAX02301;EAX02302;EAX02303;EAX02304;EAX02305;EAX02306;EAX02307;EAX02308;EAX02309;EAX02310;EAX02311;NP_002561;NP_612192;NP_612193;NP_612194;NP_612195;NP_612196;NP_612197;NP_612198;P29122 Hs.498494;Hs.665989 1650966;1661239;1766481;1797938;1852053;2163970;2164364;2174723;2180821;5024039;5117282 D15S1284;D16S325;GDB:455456;PACE4_1021;RH11158;RH1637;RH44602;RH70429;SGC35346;SHGC-149807;STS-H73505 PACE4;SPC4 paired basic amino acid cleaving enzyme 4;paired basic amino acid cleaving system 4;proprotein convertase subtilisin/kexin type 6;subtilisin-like proprotein convertase 4;subtilisin-like protease;subtilisin/kexin-like protease PACE4 APPROVED protein-coding ENSG00000140479 8569 01329 167405 REVIEWED 736345 PCSK2 proprotein convertase subtilisin/kexin type 2 This gene encodes a member of the subtilisin-like proprotein convertase family. These enzymes process latent precursor proteins into their biologically active products. The encoded protein plays a critical role in hormone biosynthesis by processing a variety of prohormones including proinsulin, proopiomelanocortin and proluteinizing-hormone-releasing hormone. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 20 20 p11.2 17155631 17413223 + 17206752 17465223 + 1581731;1580863;1357926;2308936;6480464;6483555;6483556;2308905;2308900;6483554;6483567 15286802;11874690;7698505;19142196;18039782;11730986;14630714;20036365;16337011 8034613;7722516;7913882;7626024;9020868;19260141;18096669;17618154;16293189;15585599;15489334;14702039;14614908;12477932;11780052;11720250;11439082;11246872;10931181;10900462;10530621;9467579;9359835;8661740;8557106;8276855;7983775;3053705;2154467;1765368;1594602;10965896;21546767;10037747;19339735;19628676;19724895;19851296;20198315;20379614;16344560;20501680;21102462;21383526;21437630;23011353;23251661 5126 AAB32656;Q9UJC6 ABBA01054021;ABBA01054022;AK091505;AK294200;AK312341;AL031664;AL031675;AL121779;AL359511;AMYH01011736;AMYH01011737;BC001905;BC005815;BC040546;BM893758;CH471133;DA147868;DB173053;J05252;M95960;M95971;NM_001201528;NM_001201529;NM_002594;S75955;U73595 AAA59919;AAA60032;AAB32656;AAC51862;AAD14202;AAH05815;AAH40546;ABM83601;ABM86843;BAG35262;BAG57514;EAX10279;EAX10280;EAX10281;NP_001188457;NP_001188458;NP_002585;P16519 Hs.315186 1335096;1339271;1339691;1653935;1703184;1729522;1742925;1767037;1774790;1790351;2110531;2110551;2110635;2117741;2120911;2131964;2135856;2146361;2155212;2161333;2172329;2179659;2179756;7185117;7185379;7186505 A005D19;D20S1060;D20S112;D20S114;D20S431;D20S47;D20S470;D20S48;D20S733;D20S778;GDB:215832;MARC_42817-42818:1094748518:1;MARC_46539-42818:1108157929:1;PCSK2;PCSK2_3229;RH11928;RH64144;RH65786;RH66076;SGC32415;SHGC-152681;WI-22195;Z94716 NEC 2;NEC-2;NEC2;PC2;SPC2 KEX2-like endoprotease 2;NEC 2;OTTHUMP00000030330;OTTHUMP00000040511;neuroendocrine convertase 2;prohormone convertase 2;proprotein convertase 2;subtilisin-like prohormone convertases APPROVED protein-coding ENSG00000125851 8744 01202 162151 REVIEWED 733505 PCSK7 proprotein convertase subtilisin/kexin type 7 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease. It is structurally related to its family members, PACE and PACE4. This protein is concentrated in the trans-Golgi network, associated with the membranes, and is not secreted. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes. Multiple alternatively spliced transcripts are described for this gene but their full length nature is not yet known. Downstream of this gene's map location at 11q23-q24, nucleotides that match part of this gene's 3' end are duplicated and inverted. A translocation breakpoint associated with lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Jul 2008] 11 11 q23-q24 116580998 116608021 - 117075788 117102811 - 1580863;6480464 14702039;12477932;12084516;11723118;11380615;11104692;11051545;10964928;10715106;10362256;10050053;9820811;9094426;8995623;8615762;8564950;8125298;7819324;12354117;12071862;11063880;10452538;9521771;8940009;9341152;17242158;10037747;20164418;21149283;21075846;21209099;22294700;21943158;19322201 9159 B3KUH2;E9PIW7;E9PLM0;E9PMC0;Q16549 AB231710;AB231711;AB231712;ABBA01039737;AF057710;AK027156;AK097207;AK127262;AK222907;AK312429;AMYH01004061;AP000892;BC006357;BC010696;BT006870;CH471065;EF445005;NM_004716;U33849;U40623 AAB03087;AAC50417;AAD55137;AAH06357;AAH10696;AAP35516;ABM84729;ABM92249;ACA06036;BAD96627;BAE46876;BAG35338;BAG53434;EAW67303;EAW67304;EAW67305;NP_004707;Q16549 Hs.648612 1643922;1731819;1848049;2129133;2148116;2148118;5022578 D11S1370;D11S4352;D1S1423;RH18036;RH47219;SHGC-34343;SHGC-58052 FLJ23503;FLJ45329;LPC;PC7;PC8;SPC7 OTTHUMP00000230580;hPC8;lymphoma proprotein convertase;prohormone convertase 7;prohormone convertase 8, subtilisin-like;prohormone convertase PC7;proprotein convertase 7;proprotein convertase 8;proprotein convertase PC7;proprotein convertase subtilisin / kexin, type 7;proprotein convertase subtilisin/kexin type 7;subtilisin/kexin-like protease PC7 APPROVED protein-coding 8748 05339 604872 REVIEWED 1345180 PCSK4 proprotein convertase subtilisin/kexin type 4 This gene encodes a member of the subtilisin-like proprotein convertase family. These enzymes process latent precursor proteins into their biologically active products. The encoded protein plays a critical role in reproduction and processes multiple prohormones including pro-pituitary adenylate cyclase-activating protein (proPACAP) and pro-insulin-like growth factor II. [provided by RefSeq, Feb 2012] 19 19 19 p13.3 1415419 1424399 - 1432427 1441407 - 1481427 1490407 - 6480464 16040806;15489334;14702039;12975309;12477932;11776387;11193847;10900462;8889548;7819324;7782070;19913121;20628086;21080038;19109312 54760 B3KQ28;K7EJB6;K7EKJ6;K7EMJ4;K7EN14;Q6UW60 AA453604;ABBA01002647;ABBA01002648;AC027307;AK057235;AK302079;AL043305;AL133566;AMYH01009251;AY358963;BC036354;BC142942;BU742489;CH471139;NM_017573 AAH36354;AAI67771;AAQ89322;ABM82242;ABM84279;ABM85426;ABM87671;ABW03607;BAG51890;BAG63467;CAB63719;EAW69494;NP_060043;Q6UW60 Hs.46884 1677412;1796482 PCSK4_1742;RH92433 DKFZp434B217;MGC34749;PC4;SPC5 OTTHUMP00000158677;proprotein convertase 4;proprotein convertase subtilisin/kexin type 4 APPROVED protein-coding ENSG00000115257 8746 600487 REVIEWED 732125 PCSK5 proprotein convertase subtilisin/kexin type 5 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein mediates posttranslational endoproteolytic processing for several integrin alpha subunits. It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 9 9 q21.3 77695441 77998164 + 78505560 78977255 + 1580863;6480464 8940009;18519639;8901832;12787574;16912035;8615794;18245819;18096669;18039650;17242158;16713569;16381901;16344560;16189514;15911696;15601911;15522936;14702039;12477932;11776387;11723118;11380615;11256614;11230166;11076863;10900462;10888676;10657249;9067430;8947550;8755541;8755538;8620001;8125298;7782070;11063880;9521771;8670066;15489336;10037747;19764806;20031622;20379614;21116278;19913121;20555025;20628086;21094132;21700711;21273245;21078624;21971156;21890473;19010793;20881960;22740495;22959728;23088713;23149075;23319000;18061232;19884766 5125 B1AMG5;B1AMG8;Q5JSG7;Q92824 ABBA01033898;ABBA01033899;ABBA01033900;ABBA01033901;ABBA01033902;ABBA01033903;ABBA01033904;ABBA01033905;ABBA01033906;AK056202;AK122718;AK225773;AK310862;AL353607;AL359253;AL391868;AL589653;AL834522;AMYH01021423;BC012064;CH471089;DA992221;DB491139;DT932737;DV080167;DY655633;NG_029445;NM_001190482;NM_006200;U49114;U56387 AAA91807;AAC50643;AAH12064;ABM83253;ABM86457;BAG51646;CAD39178;CAL38077;EAW62575;EAW62576;EAW62577;NP_001177411;NP_006191;Q92824 Hs.368542 1334786;1341307;1652672;1664862;1667679;1718371;1719493;1755963;1762547;1763181;1764997;1765489;1771164;1777177;1787110;2162699;2172620;2184989;5024413;7186142 D9S1807;D9S1974;D9S1997;D9S276;G34998;G35008;L17877;RH122958;RH123466;RH48203;SHGC-142784;SHGC-146362;SHGC-146910;SHGC-148548;SHGC-148973;SHGC-155149;SHGC-32247;SHGC-37380;WI-15571 FLJ11149;FLJ16215;PC5;PC6;PC6A;SPC6 OTTHUMP00000021497;OTTHUMP00000021498;OTTHUMP00000021499;hPC6;prohormone convertase 5;proprotein convertase 5;proprotein convertase 6;proprotein convertase PC5;proprotein convertase subtilisin/kexin type 5;protease PC6;subtilisin/kexin-like protease PC5 APPROVED protein-coding ENSG00000099139 8747 08985 600488 REVIEWED 6481295 PCYT1B-AS1 PCYT1B antisense RNA 1 100874088 AC079168 APPROVED miscrna 40431 731023 PCSK9 proprotein convertase subtilisin/kexin type 9 This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3). [provided by RefSeq, Jul 2008] 1 1 p32.3 55277808 55303111 + 55505149 55530526 + 1580998;1580999;1581000;1581001;1581002;1626106;6480464;7240710 12730697;16619215;16554528;15772090;14727179;17380167 21069265;17080197;12552133;16407292;17170371;17051583;14622975;16912035;19336475;19319977;19282863;19265033;19224862;19198609;19196236;19191720;19191301;19179626;19148283;19060906;19001363;18799458;18753623;18710658;18708425;18680192;18675252;18660751;18652535;18631360;18570182;18559913;18499582;18498363;18436227;18406350;18354137;18354102;18343176;18300938;18280815;18266662;18262190;21502677;22460556;22544364;18250299;18245819;18197702;18193044;18193043;18052825;18039658;18039650;18028451;18006936;17971861;17940607;17804797;17765244;17702855;17645871;17599443;17550346;17539906;17537735;17502100;17495605;17461796;17452316;17449864;17435765;17391637;17351764;17328821;17316651;17142622;17101087;17081983;16989838;16909389;16875509;16571601;16465619;16314752;16224054;16211558;16183066;16159606;15893176;15741654;15654334;15358785;15178557;15166014;15099351;14727156;14702039;12477932;10205269;22375030;22300679;22875854;20498851;20529551;20571754;20579540;20628086;20677014;20679960;20623344;20691829;20714348;20734064;20738937;20971364;20972250;20619837;20884874;16344560;18355829;18649882;19022446;19060325;19081568;19222187;19351729;19578796;19619878;19635789;19667110;19687008;19713274;19762784;19773416;19797716;19828345;19843101;19878649;19913121;19917273;19948975;20006333;20031582;20031607;20145306;20163833;20167577;20172854;20186155;20236128;20308432;20333646;20400780;21324305;20864672;20937814;21040917;20538126;20452593;20448210;20589640;20699424;20716520;20453200;21149300;21378990;21115573;21122852;21122860;21196532;21147780;21920719;23105118;23135270;21332221;21619378;21829380;21692990;22683120;21539517;21596380;22074827;21763412;21813713;22005270;21771976;21847580;22288532;22825241;23400816;21889145;23106476;22081141;22001517;22027821;21497351;22207727;22095935;20686565;22176652;22286219;22331829;22493497;22417841;22683370;23300213;23430252;21963094;22809551;23380568;23450051;23499248;23283366;22848640;22611251;22916037;22764087;23308045;23329883;23085658;22714699 255738 B4DEZ9;F5GWF0;Q8NBP7 ABBA01074699;AC091609;AK075365;AK122717;AK124635;AK293870;AK297473;AL589790;AMYH01000641;AX127530;AX207686;AY829011;BC042095;CH471059;DA738424;EF692496;FJ525880;NG_009061;NM_174936 AAI66619;AAV67948;ABV59216;ACN81318;BAC11572;BAC85910;BAG57260;BAG59894;CAC38896;CAC60361;EAX06660;NP_777596;Q8NBP7 Hs.18844 1334819;1338503;1643968;1796484;2165974 D1S2722;D1S2892;PCSK9_1729;RH18483;RH65068 FH3;HCHOLA3;LDLCQ1;NARC-1;NARC1;PC9 OTTHUMP00000009833;convertase subtilisin/kexin type 9 preproprotein;neural apoptosis regulated convertase 1;neural apoptosis-regulated convertase 1;proprotein convertase 9;proprotein convertase subtilisin/kexin type 9;subtilisin/kexin-like protease PC9 APPROVED protein-coding ENSG00000169174 20001 07080 603776;607786 REVIEWED 1353620 PCTP phosphatidylcholine transfer protein 17 17 17 q21-q24 50290127 50316517 + 51183355 51209747 + 53828340 53854748 + 1580863;6480464 10500206;10542325;18676680;17704541;17266964;15489334;12477932;12055623;11983415;19913121;19170196;19625176;19692168;22021425 58488 I3L2M9;I3L3H0;I3L4Z8;J3QT99;Q549N3;Q9UKL6 ABBA01041296;ABBA01041297;AC009837;AC091155;AF087857;AF114430;AF114431;AF114432;AF114433;AF114434;AF114435;AF114436;AF151638;AK024667;AK058120;AK314509;AMYH01008491;BC005112;BC012084;BM153142;BM549250;BX648199;CH471109;NM_001102402;NM_021213 AAF02536;AAF08345;AAF08347;AAH05112;AAH12084;AAP97167;ADZ15655;BAG37109;EAW94533;EAW94534;EAW94535;EAW94536;NP_001095872;NP_067036;Q9UKL6 Hs.285218 1652238;1719439;5037746 D1S3696;RH123437;STS-W57964 PC-TP;STARD2 START domain containing 2;START domain-containing protein 2;StAR-related lipid transfer (START) domain containing 2;phosphatidylcholine transfer protein;stAR-related lipid transfer protein 2 protein-coding ENSG00000141179 8752 06927 606055 VALIDATED 1349017 PDB1 Paget disease of bone 1 7240710 5131 8757 1352563 PDB2 Paget disease of bone 2 9345096;9626621 8171 8758 1350371 PDB4 Paget disease of bone 4 7240710 11473345 94003 1336709;1339760;7186262 D5S1972;D5S642 16033 602080 1352364 PDB5 Paget disease of bone 5 140777 17951 1345204 PDB6 Paget disease of bone 6 140778 17952 737380 PCYT1A phosphate cytidylyltransferase 1, choline, alpha 3 3 q29 197449650 197498981 - 195965253 196014584 - 1580863;6480464;6907045 7918629;17184542;17081983;16964243;15069071;12477932;12052891;10480912;9224626;9166786;8810902;8155650;7726555;2833521;2155660;19737740;20662904;20661636;22863883;22990118;20360068;21139048;21693764;21906983;22505724 5130 B4E322;C9J050;C9J2E1;C9JEJ2;C9JPY0;C9JVS0;F8WAZ5;F8WBU2;H7BZN1;H7C1T3;P49585 ABBA01033724;ABBA01033725;ABBA01033726;ABBA01033727;ABBA01033728;ABBA01033729;AC069257;AK304534;AK309073;AK309300;AK313450;AMYH01013793;BC046355;CH471191;EU280320;L28957;NM_005017 AAA72127;AAH46355;ABX44666;BAG36238;BAG65334;EAW53655;EAW53662;NP_005008;P49585 Hs.135997 1653917;1701246;1768270;2172166;2181502;7186672 A007I23;RH104251;SHGC-36945;SHGC-57653;STS-L28957 CCTA;CT;CTA;CTPCT;PCYT1 CCT A;CCT-alpha;CT A;CTP:phosphocholine cytidylyltransferase A;OTTHUMP00000208442;OTTHUMP00000208443;OTTHUMP00000208444;OTTHUMP00000208447;choline-phosphate cytidylyltransferase A;phosphorylcholine transferase A protein-coding 8754 00438 123695 PROVISIONAL 1604601 PCYOX1L prenylcysteine oxidase 1 like 5 5 5 q32 144819547 144831198 + 148717802 148729408 + 148737570 148749221 + 6480464 16344560;16303743;15489334;15340161;12477932;20237496 78991 D6R9J0;E7EVZ5;Q8NBM8 ABBA01026306;AC131025;AF451985;AK075414;AK090410;AK127281;AL834220;AMYH01015700;BC000014;BC004166;BP397957;CH471062;CS051219;DA368718;DB573610;NM_024028 AAH00014;AAH04166;AAP97684;BAC03391;BAC11604;BAG54471;CAD38901;CAI72105;EAW61783;EAW61784;EAW61785;NP_076933;Q8NBM8 Hs.644397 2107381;2132581;2161134 D5S1632E;MGC3265__7706;SGC30516 MGC3265 OTTHUMP00000160527;OTTHUMP00000228339;prenylcysteine oxidase-like protein-coding ENSG00000145882 28477 14552 VALIDATED 1350972 PCYOX1 prenylcysteine oxidase 1 Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008] 2 2 2 p13.3 70335922 70359008 + 70338797 70360731 + 70485231 70508317 + 1580863;6480464 9287348;17154273;19253276;16765319;16335952;15489334;12975309;12477932;12186880;10585463;10048485;8125298;22939629;17370265;21139048;21890473 51449 B7Z3Y2;B7Z9P8;C9JGT6;C9JM55;C9K055;F8W8W4;Q9UHG3 AB020715;ABBA01075531;ABBA01075532;ABBA01075533;ABBA01075534;AC016700;AC079338;AF181490;AK225302;AK296478;AK303043;AK314453;AK316013;AMYH01010425;AY359063;BC007029;BC022259;BC033815;BC051891;CH471053;DC417137;NM_016297 AAF16937;AAH07029;AAH33815;AAH51891;AAQ89422;AAX81995;AAX93194;ABM81727;ABM84882;BAA74931;BAG37061;BAH12368;BAH13888;BAH14384;EAW99819;NP_057381;Q9UHG3 Hs.567502 1673438;1684090;1689628;1698560;2110637;2119934;2184311;5015619;5021872;5022651 D11S2921;D11S3114;G31113;PCYOX1__7050;RH102832;RH47273;RH64952;RH98964;SHGC-30019;sY3084 KIAA0908;PCL1 OTTHUMP00000160077;OTTHUMP00000204091;OTTHUMP00000204094;prenylcysteine lyase;prenylcysteine oxidase 1 APPROVED protein-coding ENSG00000116005 20588 11422 610995 VALIDATED 1348765 PCYT1B phosphate cytidylyltransferase 1, choline, beta The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X p22.11 28699089 28813849 - 24486125 24575274 - 24576204 24690979 - 1580863;6480464;6907045 9593753;15489334;15345747;14702039;12477932;11580270;10480912;10409428;11580269;19913121;20628086;19595683;21163940;21832049;20682791;21906983 9468 F2Z2B1;Q9Y5K3 ABBA01072335;ABBA01072336;ABBA01072337;ABBA01072338;ABBA01072339;ABBA01072340;ABBA01072341;ABBA01072342;ABBA01072343;ABBA01072344;ABBA01072345;ABBA01072346;ABBA01072347;ABBA01072348;AC079168;AF052510;AF148464;AK022741;AK226121;AK296333;AK315323;AMYH01022164;AMYH01022165;BC045634;BG942820;CH471074;EU181262;HB883417;HC940826;NG_013253;NM_001163264;NM_001163265;NM_004845 AAC39754;AAD35088;AAH45634;ABW03924;BAG37725;BAG59022;CBF65932;CBU90804;EAW99021;EAW99022;EAW99023;NP_001156736;NP_001156737;NP_004836;Q9Y5K3 Hs.660708 1699674;2110107 RH103442;UniSTS:470563 CCTB;CTB CCT B;CCT-beta;CT B;CTP:phosphocholine cytidylyltransferase b;OTTHUMP00000023085;OTTHUMP00000023086;OTTHUMP00000023087;choline-phosphate cytidylyltransferase B;phosphorylcholine transferase B APPROVED protein-coding ENSG00000102230 8755 05376 604926 REVIEWED 737392 PDC phosducin This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 q25.2 184679337 184696862 - 186412698 186430240 - 1580863;6480464;7240710 7961975;8288249;16710414;16421094;14758335;12500174;12477932;12107411;11331285;11287646;10884381;10866677;10753654;10708513;9843381;9701609;9551090;9020189;8288259;8188267;2394752;2383274;2210381;21191291;18029348;19959875;8889548;20804785;15604093;19454010 5132 P20941;Q52LP8 ABBA01027704;AF076464;AF172075;AL596220;AL663036;AMYH01001562;AMYH01001563;BC093839;BC112134;BM674109;BM715757;BQ636049;CH471067;EL945964;M33478;M38058;M38059;M60720;NG_009101;NM_002597;NM_022576 AAA35486;AAA36210;AAD43142;AAH93839;AAI12135;AAI48617;AAI53183;EAW91212;EAW91213;EAW91214;EAW91215;NP_002588;NP_072098;P20941 Hs.654381 1644705;2108347;2180793 D1S3537;PDC_8528;SHGC-76031 MEKA;PHD;PhLOP;PhLP 33 kDa phototransducing protein;33kDA phototransducing protein;G beta gamma binding protein;OTTHUMP00000033581;OTTHUMP00000217169;phosducin;phosducin-like orphan protein APPROVED protein-coding ENSG00000116703 8759 01373 118800;171490 REVIEWED 736348 PCYT2 phosphate cytidylyltransferase 2, ethanolamine This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 17 17 17 q25.3 76464784 76473410 - 77455384 77462586 - 79860777 79869340 - 1580863;6480464;6907045 9083101;16189514;16023412;15489334;14702039;12477932;9370320;17207965;17612623;18583706;22863883;14697519;21900206;21139048;21906983;22339418 5833 B7ZAS0;I3L102;I3L1C4;I3L1F9;I3L1L9;I3L1R7;I3L2Q1;I3L3V9;I3NI16;Q99447 ABBA01019652;ABBA01019653;ABBA01019654;AC145207;AK093328;AK297996;AK301723;AK315777;AK316385;AMYH01008722;AY251539;AY953521;BC000351;BC010075;BX419403;BX459568;CA411562;CH471099;CR456779;D84307;HB883419;HC940828;NM_001184917;NM_001256433;NM_001256434;NM_001256435;NM_002861;NR_033683;NR_033685 AAH00351;AAH10075;ADQ32426;BAA12311;BAG52690;BAH12702;BAH13541;BAH14756;CAG33060;CBF65933;CBU90805;EAW89705;NP_001171846;NP_001243362;NP_001243363;NP_001243364;NP_002852;Q99447 Hs.569843 1734504;1796770;2108229;2136473;2147142 D17S1450E;MAFG__7350;RH44900;RH65676;SIRT7_1731 ET CTP:phosphoethanolamine cytidylyltransferase;ethanolamine-phosphate cytidylyltransferase;phosphorylethanolamine transferase APPROVED protein-coding 8756 04059 602679 REVIEWED 1323231 PDCD1 programmed cell death 1 This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008] 2 2 q37.3 242440711 242449731 - 242792033 242801058 - 1580863;6480464;6907045;7248672;7248677;7248679;7248676;7248681;7248675;7248680;7240710;7248673;7248674;7248678 23219834;22432050;19116915;15352422;16352741;15934088;17363529;21518556;17228327;21041733 1396582;9332365;19505258;19395117;19380770;19332785;19263877;19234630;19224853;19220647;19202444;19197939;19160029;19147248;19141860;19095563;19074163;19058313;19056397;19050238;19035512;18981091;18925909;18830259;18799583;18771758;18768824;18707923;18680238;18676751;18594468;18578969;18566376;18550794;18549878;18510628;18494554;18490780;18455515;18448390;18440040;18401354;18337305;18322304;18294387;18250483;18203952;18174230;18173375;18171281;18160439;18096476;18069935;18056444;18042085;18041714;18037500;17999073;17968013;17942371;17885290;17868872;17721918;17641065;17610472;17603844;17570250;17567698;17535987;17490403;17468813;17344889;17311651;17272504;17203303;17136123;17130567;17064404;17024563;17002900;16956940;16954372;16917489;16493037;16471222;16278812;16265694;16227604;16171790;15959535;15912506;15883854;15818672;15334473;15322919;15188352;15022318;14730631;14617032;12893276;12719480;12517932;12477932;12402038;12095712;9141617;7851902;17963598;21268005;20381020;21346771;20514052;21269571;21328438;20657553;20837075;20848568;20881011;20959405;20825974;20826917;21110433;18067228;18756934;19420358;19423728;19439344;19449188;19468750;19500502;19539220;19564339;19581275;19651643;19695683;19739236;19759858;19794071;19800335;19811417;19811426;19828602;19900372;19949078;19959217;19998245;20012629;20066438;20087161;20113370;20128032;20185964;20388336;20447384;20518841;20636820;20890291;20473887;20070620;20819923;20883163;21064032;21084749;21148500;22740686;20587542;20693422;20709947;20445553;20617899;20668808;20677149;20700634;20506224;18822202;22430646;22635166;23041554;20738778;20886079;21383382;21091911;21276005;21291295;20661763;21376795;21237493;21263070;22956035;22742708;22916009;22900886;21408177;21442435;21481848;20975732;21562156;21659460;21907333;21791547;21856939;21651862;23288508;23458521;21113674;21652684;22153879;21795591;21912640;21717461;21943489;21712100;20943073;21547439;21961966;21876620;21868077;21914188;22039410;21514692;22503210;21851845;21989349;22397719;23189845;21645441;22042085;22105417;22152383;22205715;22133721;22342451;21908482;20301492;21161353;21487727;22322668;22441249;22549384;22274654;22466343;22532845;22797302;22894700;23297127;11224527;23267208;23383287;23398844;23331211;22895698;21982860;23417675;23209326;22246361;23101188;16921384;16988698;21927903;22722467;22892379 5133 E7ER21;H0Y2W6;Q15116 ABBA01006067;AC131097;AF363458;AI928135;AK313848;AMYH01011636;AY206416;AY238517;AY322430;BC074740;CH471063;CR988122;EF064716;HH957981;L27440;NG_012110;NM_005018;U64863;U64864 AAC41700;AAC51773;AAC51774;AAH74740;AAN64003;AAO25116;AAO63583;AAP85379;ABK41899;BAG36577;CBX51254;EAW71298;NP_005009;Q15116 Hs.158297 2153158;2217702 PDCD1_1679;RH71365 CD279;PD-1;PD1;SLEB2;hPD-1;hPD-l OTTHUMP00000199883;programmed cell death protein 1;protein PD-1 APPROVED protein-coding ENSG00000188389 8760 02590 126200;600244;605218 REVIEWED 733658 PDAP1 PDGFA associated protein 1 The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010] 7 7 7 q22.1 93726788 93740492 - 98830525 98844228 - 98992296 99006305 - 632905;1580863;6480464 8780057 15489334;15302935;12853948;12477932;11331882;9847074;8889548;21832049;21139048;21890473;21906983 11333 F8WBW6;Q13442 AA464753;AACC02000084;ABBA01013263;ABBA01013264;AC004922;AMYH01017721;BC000684;BC001578;BC007873;BC039130;BC071993;BE543808;BF037671;BG281467;BI460344;BQ215882;CB852527;CH236956;CH471091;NG_028040;NM_014891;U41745;U65960 AAB07135;AAC50462;AAF03506;AAH00684;AAH07873;EAW76674;EAW76675;EAW76676;NP_055706;Q13442 Hs.632296 1659192;1673482;1683475;2108859;2133778;5037552;7186347 D8S2279;GDB:4585391;PDAP1_9266;RH47278;RH75270;STS-W92745 HASPP28;PAP;PAP1 28 kDa heat- and acid-stable phosphoprotein;OTTHUMP00000206311;PDGF associated protein;PDGF-associated protein;PDGFA-associated protein 1 APPROVED protein-coding ENSG00000106244 14634 06149 607075 REVIEWED 7241979 PDCD4-AS1 PDCD4 antisense RNA 1 14702039 282997 ABBA01063020;AK093606;AK097703;AL136368;AMYH01003064;NR_026932 Hs.599931 5014063 D15S1390 miscrna 27425 PREDICTED 1351056 PDCD10 programmed cell death 10 This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 3 3 q26.1 168884388 168935345 - 167401694 167452651 - 6480464;7240710 17360971;17657516;17353931;22291017;22750858;19246713;19199464;19088124;19088123;18300272;18035376;17212813;16769843;16730941;16380626;16329096;16284570;16239636;16189514;15543491;15489334;12477932;9811928;18782753;20668527;20862502;20489202;20677014;19370760;19423540;19506228;19688696;20332113;20406964;20438785;20682288;20854465;20592472;20419355;21041308;21029238;22863883;21632544;20623299;21139048;21890473;19738201;22623428;23000965;23383273;20360068;20301470;22318606;22652780;23455922;22053931 11235 C9J363;C9J5C3;C9J6F3;C9J932;C9JND6;C9JSA3;F8WDF3;H7C5M9;Q9BUL8 ABBA01058725;AC079822;AF022385;AK291130;AMYH01013636;BC002506;BC016353;CH471052;CR457107;NG_008158;NM_007217;NM_145859;NM_145860 AAB72225;AAH02506;AAH16353;ABM83509;ABM86725;BAF83819;CAG33388;EAW78574;EAW78575;EAW78576;EAW78577;EAW78578;EAW78579;EAW78580;EAW78581;NP_009148;NP_665858;NP_665859;Q9BUL8 Hs.478150 1708210 SHGC-79363 CCM3;MGC1212;MGC24477;TFAR15 OTTHUMP00000212918;OTTHUMP00000212919;OTTHUMP00000212920;OTTHUMP00000212921;OTTHUMP00000212924;OTTHUMP00000212925;OTTHUMP00000212953;OTTHUMP00000212954;OTTHUMP00000212955;OTTHUMP00000212956;OTTHUMP00000212957;OTTHUMP00000212958;TF-1 cell apoptosis-related protein 15;apoptosis-related protein 15;cerebral cavernous malformations 3 protein;programmed cell death protein 10 APPROVED protein-coding ENSG00000114209 8761 10141 603285;609118 REVIEWED 1354347 PDCD11 programmed cell death 11 PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008] 10 10 10 q24.33 98896345 98945951 + 105146402 105196009 + 105156412 105206019 + 1580863;6480464 14624448;17654514;17081983;15489334;12477932;12429849;10229231;8724849;21145461;15887232;16169070;19332556;22990118;19596686;22108332;22178446;19471022;21139048;21890473;22586326;21628590;21252943;22174317;22505724 22984 Q14690 ABBA01063100;AK294971;AK307418;AL139339;AL591408;AL603983;AMYH01003026;BC007698;BC023615;BC049838;BC064486;BC080560;BC111040;BM476302;CH471066;D80007;NM_014976 AAH49838;AAH64486;AAH80560;AAI11041;AAI72442;BAA11502;BAG58043;EAW49639;EAW49640;EAW49641;NP_055791;Q14690 Hs.239499 1644680;1685357;1854591;2155686;2165841;5122499 RH25399;RH44688;RH93896;SHGC-33513;STS-N39580;STS-Z40746 ALG-4;ALG4;KIAA0185;NFBP;RRP5 NF-kappa-B-binding protein;OTTHUMP00000020409;apoptosis-linked gene 4;programmed cell death protein 11;protein RRP5 homolog APPROVED protein-coding ENSG00000148843 13408 18752 612333 VALIDATED 1314998 PDCD1LG2 programmed cell death 1 ligand 2 9 9 p24.2 5500570 5560398 + 5510545 5571282 + 1580863;6480464 17597384;11283156;18992148;18566376;18479731;18378285;18322304;18203952;17343323;17311651;17203303;17136123;16598819;16278812;15837746;15489334;15340161;15253154;15164053;14724428;14702039;14515261;12893276;12538684;12477932;11224527;19729380;19739236;20066438;20587542;20709947;20682852;20445553;20661763;20390427;20722638;21791547;21752471;21457347;21876620;22322668;22067141;22895698 80380 Q2LC89;Q9BQ51 ABBA01065412;ABBA01065413;AF329193;AF344424;AK001872;AL162253;AMYH01019203;AY254343;AY271901;AY271902;BC074766;BC113678;BC113680;BC143920;BC143921;BX951459;CA442083;CH471071;DQ336699;EF444806;NM_025239 AAH74766;AAI13679;AAI13681;AAK15370;AAK31105;AAP13471;AAP49000;AAP49001;ABC59616;ABO33153;ADR82896;EAW58762;NP_079515;Q9BQ51 Hs.532279;Hs.617872 1680843;1690564;1693606;1851091;2219472 PDCD1LG2__5847;RH81014;RH93992;SHGC-58521;WI-18154 B7DC;Btdc;CD273;MGC142238;MGC142240;PD-L2;PDCD1L2;PDL2;bA574F11.2 B7 dendritic cell molecule;B7-DC;OTTHUMP00000021030;PD-1 ligand 2;PD-1-ligand 2;PDCD1 ligand 2;butyrophilin B7-DC;programmed cell death 1 ligand 2;programmed death ligand 2 protein-coding ENSG00000197646 18731 16147 605723 VALIDATED 733734 PDCD2 programmed cell death 2 This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010] 6 6 q27 170728375 170735673 - 170884660 170893780 - 6480464 15231747;7606924;19146857;17468402;16311922;15848047;15489334;14743216;14702039;14574404;12477932;12149646;11854457;19615732;18486760;19955554;19958059;20605493;22922207;21139048 5134 E9PCU7;F5GWT2;F5GYS7;F5H4V9;F5H739;H0YFM2;H0YFS8;H0YFZ5;J3QK82;Q16342 ABBA01030857;AJ420535;AK055180;AK297343;AL031259;AMYH01016888;AW966881;AY948416;AY948417;BC008378;BC015835;BC067759;BG721244;BX385363;CH471051;DC351104;NM_001199461;NM_001199462;NM_001199463;NM_001199464;NM_002598;NM_144781;S78085 AAB34865;AAH08378;AAH67759;AAX51225;AAX51226;ABM84401;ABM87344;BAG59795;EAW47413;EAW47414;EAW47415;EAW47416;EAW47417;NP_001186390;NP_001186391;NP_001186392;NP_001186393;NP_002589;NP_659005;Q16342 Hs.367900 1644564;1663277;1669724;1684546;1688304;1754269;1768149;1774290;1774292;1797976;2123287;2144378;2168994;2185915 A005Y04;D6S1167E;D6S1434;G20589;PDCD2_2441;RH39860;RH40415;RH46730;SGC36937;SHGC-132283;SHGC-183;SHGC-31353;STS-N37094;WI-11564 MGC12347;RP8;ZMYND7 OTTHUMP00000017701;OTTHUMP00000017702;OTTHUMP00000239306;OTTHUMP00000239307;OTTHUMP00000239309;OTTHUMP00000239312;OTTHUMP00000239314;programmed cell death 2/Rp8 homolog;programmed cell death protein 2;zinc finger MYND domain-containing protein 7;zinc finger protein Rp-8 APPROVED protein-coding ENSG00000071994 8762 02922 600866 REVIEWED 1601844 PDCD2L programmed cell death 2-like 19 19 19 q13.11 31607732 31629517 + 39587143 39608913 + 34895303 34917073 + 6480464 18486760;17393540;16311922;15489334;12477932;21145461;17207965;21139048;21890473;22505724 84306 K7EQD9;Q9BRP1 ABBA01018719;AC008747;AC092073;AMYH01009714;BC006146;NM_032346 AAH06146;ADQ32690;NP_115722;Q9BRP1 Hs.515344 1698916 RH103027 MGC13096 programmed cell death protein 2-like protein-coding ENSG00000126249 28194 17480 PROVISIONAL 732159 PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 10 10 q24 112621586 112649754 + 112631553 112659764 + 6480464;6484113 19204291;12054647;16357133;19493270;19296468;19031945;19013014;18549351;18457901;18427550;18386173;18372920;18296647;18296639;17991735;17955371;17849461;17828298;17297470;17081983;17053147;16964243;16682950;16449643;15592455;15489334;15317660;15164054;15153438;15144186;15082783;12898601;12477932;10640828;10632927;9759869;8543179;8125298;17353931;19153607;21959934;22200873;22419096;22770403;20514454;20735432;20359850;20595005;16385451;19615732;19633292;19641183;19672202;19682430;19728867;19784072;19836969;19946272;18793349;20471435;20656320;20372781;22111549;20560677;20831814;18029348;20800603;16344560;17982621;20498644;20702469;21330826;17620012;21279518;18476625;22675936;22761399;22863883;23212265;23224068;23383273;21781452;21454508;21546206;21254647;21469387;23219426;21955614;21602271;21934092;22272332;21809556;21139048;21693764;21890473;21906983;21949999;22133680;21643008;21894439;22267128;19471022;22203471;22907752;22033922;22212233;21983937;19322201;22586265;22669845;21163940;22939629;22431522;23312883;23463506;21850542;23536002;23564788;23578931;23417858;21963094;22113938;22213145;23000965;22801218;22359108;22335905;22353043;23056346;22289349;22728051 27250 B4DKX4;Q53EL6;Q5VZS7 ABBA01063020;AK223623;AK296753;AK312540;AK315295;AL049932;AL136368;AL158163;AMYH01003064;BC015036;BC026104;BC031049;BI910668;BX537500;BX641168;BX647834;CH471066;DB241608;NM_001199492;NM_014456;NM_145341;U83908;U96628 AAB42218;AAB67706;AAH15036;AAH26104;AAH31049;ABM82571;ABM85760;BAD97343;BAG35439;BAG37701;BAG59336;EAW49552;EAW49553;EAW49554;NP_001186421;NP_055271;NP_663314;Q53EL6 Hs.711490 1673808;1754713;1789252;1796486;1851165;2140131;2191557;5022576;5024571;5122361 D1S1361;G65626;MARC_26204-26205:1030736270:1;PDCD4_1402;RH44657;RH44872;RH93337;SHGC-133074;SHGC-35716;SHGC-64020 H731;MGC33046;MGC33047 OTTHUMP00000020483;neoplastic transformation inhibitor protein;nuclear antigen H731;nuclear antigen H731-like;programmed cell death protein 4;protein 197/15a APPROVED protein-coding ENSG00000150593 8763 10549 608610 REVIEWED 1321536 PDCD5 programmed cell death 5 This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010] 19 19 q13.11 37763944 37770171 + 33072094 33078358 + 1580863;6480464 9920759;19358820;19308289;18695908;18401719;17468978;17081983;16549820;16547588;16361542;16169070;16083422;15489334;15302935;15033527;12665801;12477932;11741587;8889548;22914926;16083554;18029348;17605845;19088824;19615732;19616514;19789190;19957502;20047520;20120772;20453000;14702039;16461635;20349137;20398626;20872801;21165576;20561417;20360068;21139048;21572988;21890473;21900206;21906983;22261045;22372375;22253891;19738201;21963094;22965478;23000965;23349634;23377640;22412018;23327497;23455924;22053931;22505724;22688731;22883196 9141 B4DE64;K7EL31;K7EPG2;K7EQA1;K7ESJ4;O14737;Q3HM38 AB209040;ABBA01039596;AC008474;AF014955;AK124774;AK293486;AMYH01009696;BC015519;BM696336;BT006694;CR456934;DN915905;DQ208400;N40187;NM_004708 AAD11579;AAH15519;AAP35340;ABA60375;ABM84503;ABM85537;BAD92277;BAG56975;CAG33215;NP_004699;O14737 Hs.443831 1679054;1846789;5037552 D8S2279;RH41963;RH44366 FLJ42784;MGC9294;TFAR19 TF-1 cell apoptosis-related protein 19;TF1 cell apoptosis-related gene 19;TFAR19 novel apoptosis-related;programmed cell death protein 5 APPROVED protein-coding 8764 06843 604583 REVIEWED 1354070 PDCL3P1 phosducin-like 3 pseudogene 1 8 q12.1 61299760 61300751 + 392225;448836 ABBA01041809;AC022555;AC132834;AMYH01018752;NG_022420 1340236;1695864;1695872;1698416;1728361;1752909;2116944;2176049 D8S1088;D8S1177;G17265;G63462;RH102752;SHGC-106778;SHGC-78810;SHGC-78817 pseudo 31826 INFERRED 5684196 PDCL3P2 phosducin-like 3 pseudogene 2 8 q22.3 102883823 102884807 - 643831 ABBA01037599;AMYH01018933;AP001206;NG_005684 pseudo 31705 INFERRED 7174896 PDCL3P3 phosducin-like 3 pseudogene 3 3 p24.3 17918758 17919688 - 100132683 ABBA01025117;AC104297;AMYH01013008;NG_022197 pseudo 44504 INFERRED 1322592 PDCD6 programmed cell death 6 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012] 5 5 p15.33 324736 368089 + 271736 315089 + 1580863;6480464 17196169;17214967;8560270;18997320;18940611;18256029;17045351;16957052;16189514;16004603;15925322;15635413;15489334;15366927;14999017;14702039;12819013;12804766;12522145;12477932;12445461;12445460;12372597;12034747;11883939;11883899;11606059;11591653;11278427;11108958;10858458;10744743;9880530;8125298;21145461;16132846;18957060;19520058;19864416;22712728;22863883;20000738;22369209;22142513;22161137;15161933;17955473;21893193;21139048;21906983;22939629;17110338;19738201;21988832;22623428;23167403;23383273;23137875 10016 D6RA21;E7EPW6;H0Y9X3;O75340;Q53FC3;Q86W51 ABBA01034261;AC021087;AC118458;AF035606;AK001917;AK024175;AK124302;AK128087;AK223366;AK295082;AK308872;AK310347;AK315370;AMYH01014821;AMYH01014822;AW300963;BC012384;BC028242;BC050597;BC106706;BC110291;BG390506;BI553617;BT020072;CH471235;CR983268;DB495449;NM_001267556;NM_001267557;NM_001267558;NM_001267559;NM_013232;NR_073609;U58773 AAC27697;AAF14336;AAH12384;AAH50597;AAI06707;AAI10292;AAV38875;ABM82089;ABM85270;BAC87267;BAD97086;BAG37763;BAG58124;EAW50987;EAW50990;EAW50991;NP_001254485;NP_001254486;NP_001254487;NP_001254488;NP_037364;O75340 Hs.50823 1334912;1739581;1740511;2115487;2148154;2172752;5037552;5124529 D5S1924E;D5S2300E;D5S392;D8S2279;L28364;RH47205;RH65518;SGC34338 ALG-2;FLJ42309;FLJ46208;MGC111017;MGC119050;MGC9123;PEF1B OTTHUMP00000115318;OTTHUMP00000221465;OTTHUMP00000221473;OTTHUMP00000221474;apoptosis-linked gene 2 protein;apoptosis-linked gene-2;probable calcium-binding protein ALG-2;programmed cell death protein 6 APPROVED protein-coding ENSG00000249915 8765 03035 601057 REVIEWED 7174938 PDCL3P5 phosducin-like 3 pseudogene 5 6 q25.1 151148761 151149756 + 644850 ABBA01025654;AL035086;AMYH01016745;NG_006960 2129001 SHGC-57056 pseudo 44506 INFERRED 7174871 PDCL3P6 phosducin-like 3 pseudogene 6 1 52645487 52646366 + 100419023 ABBA01074778;AL139156;AMYH01000618;NG_027092 pseudo 44507 INFERRED 7174981 PDCL3P7 phosducin-like 3 pseudogene 7 12 q14.3 66669713 66670429 - 390340 ABBA01026575;AC078889;AMYH01004554 pseudo 44508 MODEL 7174794 PDCL3P4 phosducin-like 3 pseudogene 4 3 q12.3 101431278 101432260 + 14702039 285359 ABBA01061770;AC084198;AK022267;AMYH01013360;NR_002941 Hs.720825 5022322 D11S2560 pseudo 44505 VALIDATED 1344096 PDCL2 phosducin-like 2 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008] 4 4 4 q12 53924722 53960420 - 56117449 56153136 - 56422692 56458379 - 6480464 19193988;15489334;12477932;12424248;11329013 132954 Q8N4E4 ABBA01003414;AC024243;AMYH01014191;AW629089;BC034431;BG198696;CH471057;NM_152401 AAH34431;EAX05469;NP_689614;Q8N4E4 Hs.223712 1756729 SHGC-143847 GCPHLP OTTHUMP00000218694;phosducin-like protein 2 APPROVED protein-coding ENSG00000163440 29524 15109 611676 REVIEWED 1319039 PDCD7 programmed cell death 7 This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010] 15 15 15 q22.31 42287881 42304338 - 63196770 63213227 - 65409717 65426174 - 1580863;6480464 15146077;10037816;8125298;15489334;15231748;14702039;12477932;16169070;16484223;17505986;18347052;21832049;22939629;15840729;21139048;21906983;19322201 10081 H3BT73;Q6IEG3;Q8N8D1 ABBA01038861;AC013553;AF083930;AK096970;AK225816;AK303203;AMYH01006715;BC016992;BC092464;BC131704;BK005196;BT007395;CH471082;NM_005707 AAD20241;AAH16992;AAH92464;AAI31705;AAP36059;BAC04915;BAG64293;DAA05494;EAW77713;EAW77714;NP_005698;Q8N8D1 Hs.458596 1658391;1736500;1743311;5014051;5022200;5022578;5037552 D15S707E;D1S1423;D8S2278;D8S2279;GDB:314809;L18426;SGC30454 ES18;FLJ54213;HES18;MGC22015 OTTHUMP00000164150;U11/U12 snRNP 59K;apoptosis-related protein ES18;programmed cell death protein 7 APPROVED protein-coding ENSG00000090470 8767 09736 608138 REVIEWED 735514 PDCL phosducin-like Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008] 9 9 q12-q13 124620444 124630661 - 125580376 125590935 - 633731;1580863;6480464 10095058 10524200;11256614;19376773;17081983;16717095;16381901;15745879;15585822;15489336;15489334;12477932;12466282;11230166;11076863;10899582;10884381;8248177;15889144;12060742;19403526;20098747;15604093;21139048;19322201;23251661 5082 H0Y3M0;H0Y5D3;Q13371 ABBA01043717;AF031463;AF083324;AF083325;AK024980;AK313429;AL117602;AL359512;AMYH01021694;BC017227;BQ775109;BX369420;CH471090;NM_005388;U38236 AAA79724;AAC78848;AAC78849;AAD01930;AAH17227;ABM84005;ABM87338;BAG36221;CAB56011;CAL38288;EAW87546;NP_005379;Q13371 Hs.271749;Hs.620774 1644941;1654864 D9S2066;SHGC-58111 DKFZp564M1863;PhLP OTTHUMP00000022069;phosducin-like protein APPROVED protein-coding ENSG00000136940 8770 05108 604421 REVIEWED 1320124 PDCL3 phosducin-like 3 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 95384039 95397821 + 100545859 100559633 + 101179418 101193201 + 1580863;6480464 15371430;15489334;12477932;12424248;17207965;17429077;18029348;20360068;21139048;21890473;19322201 79031 C9JST4;H7BZP2;Q9H2J4 ABBA01073928;ABBA01073929;AC068538;AF110511;AF267853;AI741007;AK300827;AK313985;AMYH01010810;BC001021;BG819099;BI820064;CH471127;NM_024065 AAG21887;AAG44722;AAH01021;AAX93227;ADQ33173;BAG36697;BAH13356;EAX01837;EAX01838;NP_076970;Q9H2J4 Hs.469459 1762543;2129001 SHGC-146357;SHGC-57056 HTPHLP;MGC3062;PHLP2A;PHLP3;VIAF;VIAF1 IAP-associated factor VIAF1;OTTHUMP00000203204;VIAF-1;phPL3;phosducin-like protein 3;viral IAP-associated factor 1 APPROVED protein-coding 28860 17827 611678 VALIDATED 68505 PDCD6IP programmed cell death 6 interacting protein This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] 3 3 p22.3 33814561 33886198 + 33840063 33911199 + 1580863;6480464;6907045 11883939;19016654;18948538;18940611;18936101;18684393;18644787;18641129;18511562;18477395;18476810;18380665;18032513;17853893;17673164;17601348;17556548;17428861;17389591;17353931;17350572;17277784;17250865;17166905;17158451;17082185;17081065;17014699;16764724;16344560;15914539;15849434;15557335;15489334;15456872;15231748;15195070;14999017;14739459;14702039;14678797;22641034;14583093;14519844;14505570;14505569;12927788;12860994;12771190;12588984;12477932;12360406;12034747;11683497;10718198;10200558;9880530;9647693;8889548;16470130;16234236;17927229;15509564;20605035;16169070;18029348;18256029;19393081;19520058;19523902;19596386;19692479;19706535;19906316;20379614;20669987;20929444;20962096;20519395;20691033;20800603;17196169;20562859;20670214;20936779;21248028;21129143;21528537;22863883;23201121;22939629;22969426;23088713;21715492;17229889;17982468;19143629;19143631;20360068;20653365;21394083;21518163;21786200;21889351;21900206;22162750;16004603;17174262;19282983;19531213;19542561;22586326;22589738;20639865;21191027;21987572;7829101;22558309;21139048;21890473;21906983;22547407;21252943;19322201;22660413;21145461;22771033;23664863;23824909;19738201;21963094;21988832;22623428;23000965;17350527;18005675;18066081;18076669;19020832;19064259;19099395;19143627;19254034;19403673;19639585;19802344;19912576;20018238;20156100;21543492;21738476;21762796;21762798;22004035;22053931;22421880;22505724;22754649;22761998;22833563;22844345;22896625;22981647;23027949 10015 C5MQH7;C9IZF9;F8WBR8;F8WDK9;F8WEQ7;Q8WUM4 AB037796;ABBA01024897;ABBA01024898;AC112220;AC123901;AF151793;AF250394;AF349951;AI346371;AK002122;AK295042;AK298727;AL695629;AMYH01013069;BC020066;BC068454;BI492166;BI562417;BM669193;BQ024882;BQ895877;BT007367;BU165197;BU194828;CH471055;CR739098;DA149360;DA652213;GQ131806;NM_001162429;NM_001256192;NM_013374 AAF08220;AAH20066;AAH68454;AAK20398;AAP36031;AAQ14260;ACS12984;BAA92092;BAA92613;BAG58093;BAH12857;EAW64468;EAW64469;NP_001155901;NP_001243121;NP_037506;Q8WUM4 Hs.475896 1672808;1680311;1694602;1756621;1769998;2120620;2142934;2164013;2217704;5092676;5114681 A005P37;Cda1ef02;D9S1961;G32258;G43299;PDCD6IP_3260;RH48396;RH93901;SHGC-143660;SHGC-76820;STS-R60314 AIP1;Alix;DRIP4;HP95;MGC17003 ALG-2 interacting protein 1;ALG-2 interacting protein X;ALG-2-interacting protein 1;ALG-2-interacting protein X;OTTHUMP00000161316;PDCD6-interacting protein;apoptosis-linked gene 2-interacting protein X;dopamine receptor interacting protein 4;programmed cell death 6-interacting protein APPROVED protein-coding ENSG00000170248 8766 06425 608074 REVIEWED 1604948 PDDC1 Parkinson disease 7 domain containing 1 11 11 p15.5 757222 767487 - 767222 777487 - 6480464 16344560;14702039;12477932;16169070;21832049;21139048 347862 B7Z1J9;E9PLI5;E9PQD8;H0YE25;H0YER3;H0YF25;Q8NB37 ABBA01015209;ABBA01015210;AK091602;AK092816;AK128653;AK293559;AK309153;AMYH01003295;AP006621;BC110868;BC112145;BC143415;BC143416;BC143418;BC143419;BC143420;BC143421;BC143422;BC143423;BU625376;CH471158;DA025348;NM_182612 AAI10869;AAI12146;AAI43417;AAI43419;AAI43421;BAC03706;BAC03983;BAC87551;BAH11535;EAX02380;EAX02381;EAX02382;NP_872418;Q8NB37 Hs.218362 1762775;2156510;5014051;5015619;5015961;5016478;5016596;5020740;5020948;5021872;5022463;5022578;5023327;5024039;5037552;5117897;5118444 D11S3114;D11S3316;D15S1477;D16S325;D1S1423;D3S1673;D8S2278;D8S2279;G35510;GDB:434012;GDB:631802;GDB:631813;L17809;L18023;SHGC-146559;STS-T72208;sY3084 FLJ34283;FLJ35497;MGC131881;MGC138350 OTTHUMP00000165135;OTTHUMP00000229255;OTTHUMP00000229718;OTTHUMP00000229721;OTTHUMP00000229724;Parkinson disease 7 domain-containing protein 1 protein-coding ENSG00000177225 26616 08172 VALIDATED 1606683 PDE12 phosphodiesterase 12 3 3 3 p14.3 57555770 57561606 + 57517044 57522720 + 57541981 57547768 + 6480464 15231837;14702039;12477932;21145461;21245038;20445249;19615732;20877624;22863883;23314748;22939629;21666256;16196087;21906983;21139048;21890473;21987572 201626 F6T1Q0;Q6L8Q7 AB115695;ABBA01024414;ABBA01024415;AC092418;AK001526;AK074423;AK300374;AL831824;AMYH01013223;BC034978;BX647169;CH471055;NM_177966 ACE86992;ACE87622;ACE87681;BAB85079;BAD20938;BAG62110;CAD38538;EAW65342;EAW65343;NP_808881;Q6L8Q7 Hs.572993 1653184;1671766;1689983;2182204;5020948;5093556;5109281 A009Q36;D1S1425;G30967;G32788;G35510;RH93850;STS-H05970 2'-PDE 2',5'-phosphodiesterase 12;2'-phosphodiesterase;2-PDE;OTTHUMP00000213138 protein-coding ENSG00000174840 25386 11842 VALIDATED 737612 PDE11A phosphodiesterase 11A The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q31.2 178196223 178681312 - 178487977 178973066 - 1580863;2312479;6480464;6907045;7240710 17376027 10725373;19429701;19214142;18559625;18491255;18312413;18043711;17178847;17008408;16767104;16330539;16079899;15995148;15815621;15800654;15800651;15538396;15489334;14702039;12477932;11502204;11121118;11050148;10906126;9847074;7935318;11156964;20920776;19549888;19557111;19671705;19689430;20110084;20351714;20379614;20881257;21047926;19913121;20628086;8557689;22996146;21697861;20881960 50940 F8WAE1;F8WDQ4;H0Y6P9;H7C4D0;Q9HCR9 AB036704;AB038041;AB048423;ABBA01062238;ABBA01062239;ABBA01062240;ABBA01062241;AC011998;AC012499;AC073834;AC073892;AC083824;AF281865;AI919276;AJ251509;AJ278682;AK074273;AK127194;AK294076;AMYH01011299;AMYH01011300;AMYH01011301;AMYH01011302;AMYH01011303;AMYH01011304;BC112393;BC114431;BX105579;BX649056;CH471058;HM771389;HM771390;HM771391;NG_012168;NM_001077196;NM_001077197;NM_001077358;NM_016953 AAG32023;AAI12394;AAI14432;AAX93113;AAY14803;AAY24130;ADV69110;ADV69111;BAB16371;BAB16372;BAB62712;BAB62713;BAB62714;BAG57418;CAB82573;CAC15567;EAX11047;EAX11048;EAX11049;EAX11050;EAX11051;NP_001070664;NP_001070665;NP_001070826;NP_058649;Q9HCR9 Hs.570273 1340589;1645783;1681428;1702552;1709300;1713801;1796490;2131064;2134817;2151619;5016352;5016700;7187510 D2S2757;D2S300;G10440;G16409;GDB:451846;L30021;PDE11A_1016;RH120788;RH79802;RH91242;SHGC-37408;SHGC-85849 FLJ23693;MGC133355;MGC133356;PPNAD2 OTTHUMP00000205269;OTTHUMP00000205270;OTTHUMP00000205271;OTTHUMP00000205272;OTTHUMP00000205273;cAMP and cGMP cyclic nucleotide phosphodiesterase 11A;cAMP and cGMP phosphodiesterase 11A;cyclic nucleotide phosphodiesterase 11A;dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A APPROVED protein-coding ENSG00000128655 8773 05391 604961;610475 REVIEWED 68649 PDE10A phosphodiesterase 10A The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011] 6 6 q26 165664519 165995574 - 165740776 166075588 - 1580863;1300048;2312479;6480464;6907045 17376027 16330539;21494592;18635550;18514160;15489334;14702039;14574404;12477932;11602184;11156964;10998054;10441464;10393245;10373451;19913121;20628086;20816195;8557689;16169070;19689430;20201926;20298200;20351714;20379614;20526340;20610737;20585324;15938621;21139048;22890011;23408906;12549820 10846 Q9Y233 AB020593;AB026816;AB041798;ABBA01015089;ABBA01015090;ABBA01015091;AF127479;AF127480;AI632009;AK021956;AK098543;AK297555;AL117345;AL121789;AL136130;AL160160;AMYH01016842;BC104858;BC104860;BC143297;BC143301;CH471051;CR536567;CS158635;DR000181;NG_031878;NM_001130690;NR_045597 AAD32595;AAD32596;AAI04859;AAI04861;BAA78034;BAA84467;BAB16383;BAB92963;BAG59948;CAG38804;CAJ29925;EAW47546;NP_001124162;Q9Y233 Hs.348762 1334598;1645039;1697508;1713965;1722167;1723775;1726685;1751337;1772946;1796488;2142136;2183636 D6S1719;G09347;G60135;G62579;PDE10A_370;RH102256;RH118625;RH119412;RH15826;RH37465;RH63721;SHGC-105173 FLJ11894;FLJ25677;HSPDE10A OTTHUMP00000017586;cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;dJ416F21.1 (phosphodiesterase 10A);phosphodiesterase 10A1 (PDE10A1) APPROVED protein-coding ENSG00000112541 8772 17828 610652 REVIEWED 68458 PDE1A phosphodiesterase 1A, calmodulin-dependent Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009] 2 2 q32.1 182715428 183095710 - 183004762 183387572 - 1580863;1300048;2312479;6480464;6907045 17376027 8557689;19214142;18043711;16514069;15489334;15272012;12477932;12135876;11991719;11747989;11369604;11342109;11329013;11156964;10405764;8889548;19913121;20628086;17726023;19557111;20110084;20379614;18335582;20807569;21832049;16344560;22012077 5136 B7Z226;B7Z3A7;B7Z7A2;Q9C0L3;Q9Y633 AA846454;AB038224;AB038227;AB038228;ABBA01062291;ABBA01062292;ABBA01062293;ABBA01062294;ABBA01062295;ABBA01062296;ABBA01062297;ABBA01062298;ABBA01062299;AC010888;AC011291;AC012500;AF110235;AF110236;AF110237;AF110238;AF110239;AJ401610;AK130643;AK294239;AK295657;AK301720;AL110263;AL536937;AMYH01011315;AMYH01011316;AMYH01011317;BC022480;BC047057;BG196993;BM719913;CH471058;DA128734;DA295167;DB128091;DB512285;DC396228;NM_001003683;NM_001258312;NM_001258313;NM_001258314;NM_005019;U40370 AAC50436;AAD40737;AAD40738;AAD40739;AAD40740;AAD40741;AAH22480;AAY14812;AAY14837;ABM83295;ABM84298;ABM86504;ABM87693;BAB20037;BAB20038;BAB20049;BAB20050;BAB20051;BAB20052;BAB20053;BAB20054;BAB20055;BAB20056;BAB20057;BAH11712;BAH12143;BAH13538;CAB53703;CAC82208;EAX10965;EAX10966;EAX10967;EAX10968;EAX10969;EAX10970;EAX10971;EAX10972;EAX10973;EAX10974;EAX10975;NP_001003683;NP_001245241;NP_001245242;NP_001245243;NP_005010;P54750 Hs.191046;Hs.742174 1298269;1654022;1661904;1704532;1715185;1717813;1718045;1752489;1752893;2137937;2187617;5015619;5020948;5022450;7185301 A005C38;D10S275;D11S3114;D2S1673E;D2S364;G35510;RH119843;RH121817;RH122639;RH45793;SHGC-106375;SHGC-106801;SHGC-83063;WIAF-1570 CAM-PDE-1A;HCAM-1;HCAM1;HSPDE1A;MGC26303 3',5' cyclic nucleotide phosphodiesterase;61 kDa Cam-PDE;OTTHUMP00000163419;OTTHUMP00000205289;OTTHUMP00000205290;calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A;calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase;calmodulin-dependent phosphodiesterase;cam-PDE 1A;hCam-1;phosphodiesterase-1A APPROVED protein-coding ENSG00000115252 8774 01387 171890 VALIDATED 68463 PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa Cyclic nucleotide phosphodiesterases (PDEs) catalyze hydrolysis of the cyclic nucleotides cAMP and cGMP to the corresponding nucleoside 5-prime-monophosphates. Mammalian PDEs have been classified into several families based on their biochemical properties. Members of the PDE1 family, such as PDE1C, are calmodulin (see MIM 114180)-dependent PDEs (CaM-PDEs) that are stimulated by a calcium-calmodulin complex (Repaske et al., 1992 [PubMed 1326532]).[supplied by OMIM, Oct 2009] 7 7 7 p14.3 31779557 32325238 - 31795772 32077516 - 31792632 32338383 - 1580863;2312479;6480464;6907045 17376027 8557689;19240061;17726023;16455054;14702039;12853948;12477932;11834707;11369604;11156964;16344560;1326532;20110084;20379614;18335582;23509613;23472165 5137 B3KSS6;F8W905;Q14123 AACC02000087;ABBA01056825;ABBA01056826;ABBA01056827;ABBA01056828;ABBA01056829;ABBA01056830;ABBA01056831;ABBA01056832;ABBA01056833;ABBA01056834;AC004931;AC005589;AC006377;AC007033;AC007093;AC018637;AK056170;AK091734;AK094180;AMYH01017153;AMYH01017154;AMYH01017155;BC022479;BC022525;CH471073;DA025688;DA030384;DA221214;DA249465;NM_001191056;NM_001191057;NM_001191058;NM_001191059;NM_005020;U40371;U40372 AAA96961;AAC29142;AAC50437;AAH22479;AAH22525;AAS07516;ABM84569;ABW03312;BAC03734;BAG51638;BAG52838;EAW93984;EAW93985;EAW93986;EAW93987;NP_001177985;NP_001177986;NP_001177987;NP_001177988;NP_005011;Q14123 Hs.728862 1298114;1337334;1665497;1668620;1671392;1711858;1750291;1754477;1768355;1772467;1776507;2122174;2126899;2135549;2140220;2145002;2146857;2149303;2160160;2168767;2172472;2177159;2219474;7183809;7187038;7187785 A004F24;AFM190YH2;D7S1392;D7S1660;D7S1834;D7S2252;D7S2844;D7S3045;D7S3055;D7S722;D7S795;D7S817;G17174;G49461;GDB:1317182;GDB:1318410;GDB:3754398;GDB:6028491;PDE1C_4139;RH18056;RH18057;SHGC-112503;SHGC-132749 Hcam3 Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A);OTTHUMP00000123469;OTTHUMP00000123470;OTTHUMP00000123471;OTTHUMP00000202647;OTTHUMP00000202648;calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C;cam-PDE 1C;hCam-3 APPROVED protein-coding ENSG00000154678 8776 04287 602987 VALIDATED 730957 PDE2A phosphodiesterase 2A, cGMP-stimulated 11 11 q13.4 71964833 72063060 - 72287184 72385497 - 1580863;1300048;2312479;6480464;6907045 17376027 9210593;17329248;19390057;16344560;15650061;14702039;12477932;12271124;12038792;11156964;10375378;19828435;20351714;8557689;20395239;19913121;20628086;21697861;21766240;19506089;19689430;14687666;15938621;17704206;19252089;21724846;21987572;22446963 5138 C9JPD5;E9PEF1;F5GXX2;F5GYQ9;F5H130;F5H143;F5H1D7;F5H2R8;F5H2V7;F5H2Z0;F5H3Z7;F5H5P8;F6W5Z0;H0YFL1;H0YG13;H0YGL2;H7C009;O00408;Q6ZMR1;Q8IW54 ABBA01017534;ABBA01017535;AI498038;AK092278;AK095024;AK131525;AK295676;AK312434;AMYH01003794;AMYH01003795;AMYH01003796;AP003065;AP005019;AY495087;AY495088;BC040974;BI760519;CH471076;DA219662;DA227593;DA243617;DA325165;DA329075;DA332549;DA504595;DA801834;DB068707;NM_001143839;NM_001146209;NM_001243784;NM_002599;U67733 AAC51320;AAH40974;AAS75513;AAS75514;BAD18664;BAG35343;BAG52517;BAG52972;BAG58533;EAW74861;EAW74862;NP_001137311;NP_001139681;NP_001230713;NP_002590;O00408 Hs.503163 1337501;1667994;1739297;1749593;1758959;1774615;2108349;2111200;2190947;7186713 D11S1314;D11S1379E;D2S1960E;MARC_12039-12040:1004039373:1;PDE2A_222;SHGC-111281;SHGC-150621;SHGC-3230;WI-13191 CGS-PDE;PDE2A1;PED2A4;cGSPDE CGS-PDE;OTTHUMP00000128215;OTTHUMP00000128216;OTTHUMP00000128217;OTTHUMP00000237359;OTTHUMP00000237360;OTTHUMP00000237361;cGMP-dependent 3',5'-cyclic phosphodiesterase;cGMP-stimulated phosphodiesterase 1;cGMP-stimulated phosphodiesterase 4;cGSPDE;cyclic GMP-stimulated phosphodiesterase protein-coding ENSG00000186642 8777 04041 602658 VALIDATED 735556 PDE1B phosphodiesterase 1B, calmodulin-dependent The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 12 12 q13 53229671 53259290 + 54943177 54973023 + 1580863;1300048;2312479;6480464;6907045 17376027 9419816;8855339;16407168;15625104;15489334;15345747;12477932;11747989;11156964;9003415;1326532;16344560;17726023;19913121;20628086;18029348;8557689;15342556;14687666;21900206;21044950 5153 B4DK72;F8VZK3;Q01064;Q7Z364 AB209200;ABBA01008375;ABBA01008376;AC068789;AC079310;AJ401609;AK126899;AK296422;AK302899;AK302931;AMYH01004489;BC032226;BP342896;BX538092;CH471054;DA254686;DC298452;DC392024;M94539;NG_029621;NM_000924;NM_001165975;U40584;U56976;U86077;U86078 AAA58405;AAB50018;AAC50769;AAC51871;AAC51872;AAH32226;ABM82599;ABM85785;BAD92437;BAG54390;BAG59084;BAG64072;BAG64092;CAC82207;CAD98011;EAW96788;EAW96789;EAW96790;EAW96791;NP_000915;NP_001159447;Q01064 Hs.530871 1671034;1765069;2152849;2179633;2191393;2217706 A007D03;MARC_21181-21182:1027091922:1;PDE1B_3295;RH44485;RH78688;SHGC-148605 PDE1B1;PDES1B 63 kDa Cam-PDE;OTTHUMP00000242271;OTTHUMP00000242273;OTTHUMP00000242274;Phosphodiesterase-1B;calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B;calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase;calmodulin-stimulated phosphodiesterase PDE1B1;cam-PDE 1B;phosphodiesterase IB, calmodulin-dependent;presumed 63kDa form of the type 1 cyclic nucleotide phosphodiesterase family known as PDE1B APPROVED protein-coding ENSG00000123360 8775 01388 171891 REVIEWED 732966 PDE3B phosphodiesterase 3B, cGMP-inhibited 11 11 p15.1 14621907 14848926 + 14665269 14893605 + 1580863;2312479;6480464;6907045 17376027 8884271;17255105;17884339;18586889;11641262;16702214;16476736;16395595;15147193;12765845;12477932;12453887;11839681;11640991;11156964;10952971;10454575;8921398;8706823;8626720;8163498;19569180;19913121;20628086;8557689;21393242;21152070;21724851;22001403;21963837;21890473;22479202;22649097;22505724 5140 A7E2E5;B7ZM37;Q13370 AB209326;ABBA01061099;ABBA01061100;ABBA01061101;ABBA01061102;AC018795;AC087207;AC090835;AMYH01003403;AMYH01003404;AMYH01003405;AMYH01003406;AY459346;BC136565;BC136566;BC144248;BC150307;CH471064;D50640;NM_000922;U38178;X95520;X95522 AAC50724;AAI36566;AAI36567;AAI44249;AAI46829;AAI50308;AAI50323;AAR24292;BAA09306;BAD92563;CAA64774;CAA64776;EAW68474;EAW68475;NP_000913;Q13370 Hs.445711 1342384;1683988;1761735;1767807;2139487;5015961;5022322;5037552 D11S2560;D11S4193;D15S1477;D8S2279;RH16485;RH80346;SGC34479;SHGC-145708 HcGIP1;cGIPDE1 CGI-PDE B;CGIP1;OTTHUMP00000231474;OTTHUMP00000231475;cGMP-inhibited 3',5'-cyclic phosphodiesterase B;cyclic GMP-inhibited phosphodiesterase B;cyclic nucleotide phosphodiesterase protein-coding 8779 03626 602047 VALIDATED 737080 PDE4A phosphodiesterase 4A, cAMP-specific The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 19 19 p13.2 10424637 10441306 + 10527449 10580307 + 1580863;1300048;2302430;2312479;2302429;6480464;6907045 16190900;17376027;17397885 9677330;8940140;19047098;19018233;18095939;17576803;16940352;16856845;16300476;16257373;15738310;15489334;15047569;14759258;12810716;12764607;12477932;11994273;11852080;11839681;11566027;11306681;11156964;11114167;10393044;10206997;8413254;8009369;7888306;7772058;2160582;11296225;20813835;19642024;19759179;20082309;20086095;20193079;9371714;19913121;20628086;20554760;21161247;23043089;17704206;21898905;21652625;23008439;20600853;21732365;17404263;20467438 5141 K7EKV1;K7ENX7;Q8WUQ3 ABBA01029926;ABBA01029927;ABBA01029928;ABBA01029929;ABBA01029930;ABBA01029931;ABBA01029932;AC011461;AC011529;AC011548;AF069491;AF073745;AF178570;AMYH01009473;AMYH01009474;AMYH01009475;AMYH01009476;AW138155;AY266362;AY593872;AY618547;BC019864;BC038234;BE266386;BQ009232;CH471106;L20965;L20967;M37744;NG_029594;NM_001111307;NM_001111308;NM_001111309;NM_001243121;NM_006202;S75213;U18087;U18088;U68532;U97584 AAA03588;AAA03590;AAA69697;AAA98540;AAB33798;AAC25679;AAC35012;AAC35013;AAC35014;AAC35015;AAC50458;AAC63832;AAD34217;AAG13805;AAG13806;AAH19864;AAH38234;AAP31234;AAT00628;AAU82096;ABM83374;ABM86586;EAW84104;EAW84105;EAW84106;EAW84107;EAW84108;EAW84109;NP_001104777;NP_001104778;NP_001104779;NP_001230050;NP_006193;P27815 Hs.89901 1680497;1790375;2130624 G06567;PDE4A;RH98678 DPDE2;PDE4;PDE46 cAMP-specific 3',5'-cyclic phosphodiesterase 4A;cAMP-specific phosphodiesterase;phosphodiesterase 4A, cAMP-specific (dunce;phosphodiesterase 4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila);phosphodiesterase E2 dunce homolog;phosphodiesterase E2 dunce homolog, Drosophila;phosphodiesterase isozyme 4 APPROVED protein-coding ENSG00000065989 8780 02527 600126 REVIEWED 733361 PDE4B phosphodiesterase 4B, cAMP-specific This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. Cyclic nucleotides are important second messengers that regulate and mediate a number of cellular responses to extracellular signals, such as hormones, light, and neurotransmitters. The cyclic nucleotide phosphodiesterases (PDEs) regulate the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. This gene encodes a protein that specifically hydrolyzes cAMP. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 p31 66030781 66612850 + 66258193 66840262 + 1580863;1300048;2312479;6480464;6907045 17376027 9371714;18029348;19350560;19251251;19240061;18983980;18785206;18394866;18329668;17903301;17823207;17519386;17481393;17417055;17088426;16997058;16344560;16293762;15345747;15331441;15146197;14702039;14585965;12477932;12441002;11839681;11156964;11114167;9882697;8392015;8384210;8009369;7958996;7835077;8413254;19913121;20628086;19060910;19506219;19632097;19728060;19834503;20201926;20379614;20436352;21520048;17404263;21184794;21595828;17043677;21742807;21854221;21906983;15174051;22832604;22529021;22566634;22160351;22384243;22610099;21652625;23007406 5142 A5YW33;E9PJ03;E9PMG3;E9PNB0;E9PR34;H0YCV7;Q07343;Q59GM8 AA206316;AA453531;AB209081;ABBA01074534;ABBA01074535;ABBA01074536;ABBA01074537;ABBA01074538;ABBA01074539;AK000989;AK127365;AK289969;AK290006;AK290206;AK294441;AL109926;AL357273;AL359701;AL513493;AL590783;AL591487;AL592285;AMYH01000687;AMYH01000688;AW519027;BC036108;BC046161;BC071607;BC101480;BC105040;CH471059;CN268011;CR749667;DA103627;DA126733;EF595686;GM837077;L12686;L20966;M97515;NG_029038;NM_001037339;NM_001037340;NM_001037341;NM_002600;U85048 AAA03589;AAA35643;AAA36426;AAB96381;AAI01481;AAI05041;ABQ85407;BAD92318;BAF82658;BAF82695;BAF82895;BAG57682;CAH18458;CAV28613;EAX06524;EAX06525;NP_001032416;NP_001032417;NP_001032418;NP_002591;Q07343 Hs.198072 1648528;1668658;1692964;1703944;1705178;1710066;1710900;1730367;1751855;1752063;1758665;1776974;1796492;1847216;2125453;2134300;2137180;2137379;2153891;2163994;2169269;2170308;2175817;2178402;2180531;2187777;5015959 AL009941;AL009956;AL010057;AL034198;D10S2448;D1S2393;D1S289E;D1S520;G16071;G16076;G16244;G16246;G34878;G34880;G69473;PDE4B_372;RH64524;SGC30670;SGC32588;SHGC-105808;SHGC-106013;SHGC-149105;SHGC-74957;SHGC-80038;SHGC-82313;SHGC-83655;SHGC-84244 DKFZp686F2182;DPDE4;MGC126529;PDE4B5;PDEIVB OTTHUMP00000010652;OTTHUMP00000010653;OTTHUMP00000010654;OTTHUMP00000010656;OTTHUMP00000232365;PDE32;cAMP-specific 3',5'-cyclic phosphodiesterase 4B;cAMP-specific phosphodiesterase-4 B isoform;dunce-like phosphodiesterase E4;phosphodiesterase 4B, cAMP-specific (dunce;phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila);phosphodiesterase E4 dunce homolog APPROVED protein-coding ENSG00000184588 8781 02528 600127 REVIEWED 734436 PDE3A phosphodiesterase 3A, cGMP-inhibited This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 12 12 p12 20413464 20725148 + 20522179 20837041 + 1580863;1300048;2300416;2312479;1582528;2300415;6480464;6907045 12793980;17376027;12466227;9648839 22569225;9173884;8921398;18391951;17392505;17332439;16964243;16873361;16172121;16153182;15489334;15041473;12773402;12477932;12154085;12038792;11156964;10679291;10421499;8695850;8155697;1315035;19913121;20089840;20628086;19261611;19478329;19584346;20031603;8557689;20586925;22863883;11115397;14702039;8889548;17704206;19252089;23008439;15161933;20686565;22479202 5139 Q14432 ABBA01067955;ABBA01067956;AC112777;AC129029;AC129102;AJ005036;AK095203;AK308317;AMYH01004316;AMYH01004317;AMYH01004318;BC117369;BC117371;BQ024709;BQ187047;BX646774;CH471094;M91667;NG_030033;NM_000921;NM_001244683;U36798 AAA35912;AAB18673;AAI17370;AAI17372;CAA06304;EAW96406;NP_000912;NP_001231612;Q14432 Hs.386791;Hs.737522 1298164;1656244;1686724;1704214;1717867;1717885;1761143;1768722;1782534;1791866;1852643;2125061;2181835 D12S1682;G11803;G22294;PMC128323P1;RH11286;RH122765;RH122774;RH26361;SHGC-106913;SHGC-145148;SHGC-35793;SHGC-83125;STS-M91667 CGI-PDE;CGI-PDE A;CGI-PDE-A;FLJ37884 CGI-PDE A;OTTHUMP00000239825;cAMP phosphodiesterase, myocardial cGMP-inhibited;cGMP-inhibited 3',5'-cyclic phosphodiesterase A;cyclic GMP inhibited phosphodiesterase A;cyclic GMP-inhibited phosphodiesterase A APPROVED protein-coding ENSG00000172572 8778 00441 123805 REVIEWED 737216 PDE4C phosphodiesterase 4C, cAMP-specific The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] 19 19 p13.11 18179771 18220010 - 18318771 18359010 - 1580863;2312479;6480464;6907045 17376027 9349724;15302935;15057824;14702039;14684825;12477932;11207431;11156964;10574328;9429761;8413254;8009369;7843419;20237496;9371714;19913121;20628086;23043089;16344560 5143 M0R1P5;O43849;P78505;Q08493;Q32MM7;Q7KYS4 ABBA01051253;ABBA01051254;AC005759;AC008397;AC068499;AF157816;AI051127;AK295050;AK300888;AK300983;AMYH01009586;AY429555;AY429556;AY429557;AY429558;BC109067;BC109068;CH471106;DB313915;L20968;NG_029629;NM_000923;NM_001098818;NM_001098819;NR_040546;U66346;U66347;U66348;U66349;U88712;U88713;Z46632 AAA03591;AAB96875;AAB96876;AAB96877;AAB96878;AAC51915;AAC51916;AAC83047;AAC83048;AAC83049;AAC83050;AAC83051;AAD47053;AAD47054;AAD47055;AAF67386;AAI09068;AAI09069;BAH11959;BAH13367;BAH13388;CAA86601;EAW84675;EAW84676;EAW84677;EAW84678;EAW84679;NP_000914;NP_001092288;NP_001092289;Q08493 Hs.132584 1341514;1645458;1771139;5015961;5024756;5037552;5109281;5118877 D11S3745;D15S1477;D19S212;D1S1425;D8S2279;RH41833;RH80030;SHGC-12528 DPDE1;MGC126222 PDE21;cAMP-specific 3',5'-cyclic phosphodiesterase 4C;dunce;phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila);phosphodiesterase E1 dunce homolog APPROVED protein-coding ENSG00000105650 8782 02529 600128 REVIEWED 1352019 PDE4DIP phosphodiesterase 4D interacting protein The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 1 1 1 q12 121506245 121526690 + 143562784 143787436 - 144851424 145076186 - 1299425;6480464 11134006 17923693;17143517;16713569;16344560;15342556;14702039;12693553;12477932;11374908;9455484;18029348;18482256;20379614;8889549;17207965;21767579;19322201;17043677;21900206;21139048;22558309;16969126;18685082;22864933;23455922;23455924;15231748;21988832;22792062 9659 E9PI71;E9PIN2;E9PJ64;E9PJ85;E9PJA9;E9PJK3;E9PJU0;E9PL24;E9PNE0;E9PPE8;E9PQ86;E9PQG4;E9PRJ6;E9PS60;F8WAP3;H0YC86;H0YCE6;H0YCH7;H0YCY0;H0YEW6;Q5TB27;Q86TB2 AA025132;AA707296;AB007923;AB007946;AB042555;AB042557;ABBA01017835;ABBA01115954;ABBA01150088;ABBA01167899;ABBA01173452;ABBA01184561;ABBA01205490;AC239802;AC239804;AC245389;AF086451;AK000835;AK001619;AK021585;AK023588;AK024906;AK124487;AL080213;AL138791;AL138796;AL590452;AL598372;AL831815;AL832024;AL832085;AL833273;AMYH01001128;AW755251;BC004860;BC025406;BC078660;BC132717;BC152439;BC152553;BE536412;BE677898;BG527781;BG776644;BI550399;BP286699;BU075360;BX647660;CB528730;CB529851;CD364321;CR749273;DA238288;DA400204;DA764537;DA766011;DA816062;DA860918;DB187907;NG_027693;NM_001002810;NM_001002811;NM_001002812;NM_001195260;NM_001195261;NM_001198832;NM_001198834;NM_014644;NM_022359;R42452 AAH04860;AAH25406;AAH78660;AAI32718;AAI52440;AAI52554;AAI72441;ADQ32278;BAA32299;BAA32322;BAB17759;BAB17761;CAD38529;CAD89923;CAD91152;CAH18128;CAH72521;CAH72522;CAH72523;CAH72524;CAH72525;CAH72526;CAH72527;CAH72528;CAI22526;CAI22527;CAI22822;CAI22823;CAI22824;CAI22825;CAI22826;CAI22827;NP_001002810;NP_001002811;NP_001002812;NP_001182189;NP_001182190;NP_001185761;NP_001185763;NP_055459;NP_071754;Q5VU43 Hs.584841;Hs.613082;Hs.657490;Hs.731111 1340344;1656972;1659027;1670264;1676870;1677548;1678831;1678947;1679315;1681378;1681480;1683463;1683603;1684409;1685900;1686312;1687940;1690646;1693456;1694792;1713777;1728067;1756373;1766507;1771236;1781670;1781722;1846941;1848571;2108861;2131946;2144937;2163684;2164487;2171864;2177439;2185981;2187018;2191073;5014051;5014055;5021872;5022200;5037552;5093210;5094084;5111713;5117192;5123867;5124053;5124223;5124767;5124956 AFM210wf10;AL009535;AL033606;Bda98b05;Bdy36e05;Cda0tc11;Cda10d12;D16S682;D1S3024;D1S307E;D1S3428;D1S3697;D8S2278;D8S2279;G32585;G34963;G43616;G63304;GDB:313517;GDB:451667;L18426;MARC_13975-13976:1010423707:1;PDE4DIP_8974;RH120775;RH18358;RH25714;RH26146;RH41904;RH45866;RH64503;RH64661;RH64662;RH64667;RH64676;RH67277;RH67357;RH68842;RH78997;RH92535;RH93003;RH98617;SHGC-143344;SHGC-149825;SHGC-154983;SHGC-155255;SHGC-24367;SHGC-31941;SHGC-52621;SHGC-57329;SHGC-59065;SHGC-63508;WI-13414;sY3084 CMYA2;DKFZp781J054;MGC75440;MMGL OTTHUMP00000015720;OTTHUMP00000015721;OTTHUMP00000015722;OTTHUMP00000015723;OTTHUMP00000015724;OTTHUMP00000015725;OTTHUMP00000015726;OTTHUMP00000015727;OTTHUMP00000230044;OTTHUMP00000230074;OTTHUMP00000230075;OTTHUMP00000230076;OTTHUMP00000230091;OTTHUMP00000230125;OTTHUMP00000230506;cardiomyopathy associated 2;cardiomyopathy-associated protein 2;myomegalin;phosphodiesterase 4D-interacting protein APPROVED protein-coding ENSG00000178104 15580 10482 608117 REVIEWED 736102 PDE4D phosphodiesterase 4D, cAMP-specific This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009] 5 5 q12 58300622 59225378 - 58264865 59783925 - 1581003;1581004;1581005;1581006;1581007;1580863;1300048;2312479;68716;2312656;6480464;6907045;7240710 16914755;16825591;16675738;15802632;14517540;17376027;11296225;18431594 18711446;18705898;18694398;18514160;18420948;18398440;18158110;18157711;17956250;17903308;17900862;17884339;17673687;17667963;17655870;17594329;17288540;17135396;17088426;17081983;17065074;17016624;16973330;16964243;9371713;19608201;19426955;19424605;19417766;19399275;19372219;19282863;19251251;19246712;19196240;19056482;18977990;16835261;16689683;16642035;16543535;16373644;16322495;16166573;16162858;16130105;16030021;16020760;15861005;15752431;15731479;15611099;15489334;15131123;15003452;14668322;14609333;14517535;14500724;12842049;12834813;12552097;12477932;12399592;12387865;12193273;12121997;11839681;11833004;11516626;11156964;11134006;10913353;10828059;10329691;10022832;8797812;8663227;8413254;8125310;8009369;2554303;10571082;16344560;17006457;17353396;19578796;19786079;19948975;20106966;20161734;20182758;20201926;20357438;20379614;20503266;20540798;7829101;9371714;22558309;19913121;20628086;20634892;20734779;20816195;20732872;20837708;20952536;20819076;23120769;21642993;22863883;23043190;21611147;21786629;22882844;23033274;23786009;15938621;19252089;20360068;21876611;21903937;19471022;23076369;22045424;21989204;20647544;22464250;22464252;17620599;22610502;21832049;23135027;21319273;22274584;22771915;21652625;15182229;16177794;16213210;17404263;23536305;21677445;21963094;23241943;23251661;22908311;9639573 5144 D6R9L4;D6RAQ0;D6RBB2;D6RHE0;D6RIG1;Q8IVD2 ABBA01015793;ABBA01015794;ABBA01015795;ABBA01015796;ABBA01015797;ABBA01015798;ABBA01015799;ABBA01015800;ABBA01015801;AC008791;AC008804;AC008818;AC008829;AC008833;AC008934;AC012315;AC020924;AC026693;AC027322;AC034234;AC091913;AC091955;AC092343;AC109486;AC117527;AF012073;AF012074;AF536975;AF536976;AF536977;AF536980;AJ250852;AJ250854;AJ250855;AK307363;AMYH01015102;AMYH01015103;AMYH01015104;AMYH01015105;AMYH01015106;AMYH01015107;AY245866;AY245867;AY388960;BC008390;BC036319;BF197530;BI492585;BT007398;BX648604;CH471123;DB230503;L20970;NG_027957;NM_001104631;NM_001165899;NM_001197218;NM_001197219;NM_001197220;NM_001197221;NM_001197222;NM_001197223;NM_006203;U02882;U50157;U50158;U50159;U79571 AAA03592;AAA97890;AAA97891;AAA97892;AAC00069;AAC00070;AAC13745;AAC51928;AAH08390;AAH36319;AAN10117;AAN10118;AAN10119;AAP36062;AAP75760;AAP75761;AAQ90404;ADZ15409;CAC03756;CAC03757;CAC03758;EAW54982;EAW54983;EAW54984;EAW54985;EAW54986;EAW54987;EAW54988;EAW54989;EAW54990;EAW54991;EAW54992;NP_001098101;NP_001159371;NP_001184147;NP_001184148;NP_001184149;NP_001184150;NP_001184151;NP_001184152;NP_006194;Q08499 Hs.117545 1298298;1335280;1337975;1338218;1338914;1339401;1340026;1340664;1341744;1645773;1650628;1650808;1652080;1661573;1671346;1671550;1698328;1700082;1703578;1704198;1714753;1718267;1718557;1723223;1731439;1732553;1740377;1750983;1751489;1755187;1755417;1756091;1760333;1762617;1772475;1776789;1778275;1785694;1785718;1788622;1846833;1848522;2110867;2123909;2124873;2131644;2133474;2142944;2147769;2150748;2154787;2155642;2157472;2182431;2183945;2218582;5021920;5095036;7184468 BB520687;D4S393;D5S1371;D5S1474;D5S1765;D5S2071;D5S2080;D5S2091;D5S2201E;D5S2376;D5S2500;D5S398;D5S431;D5S468;D5S516E;D5S524;D5S612;D7S1938;G09934;G16934;L28248;L28295;L28370;L28399;L31464;PDE4D;PDE4D_4140;RH102705;RH103654;RH120042;RH122295;RH122480;RH122905;RH17464;RH36173;RH36510;RH48896;RH65738;RH69750;RH78454;SHGC-104922;SHGC-105334;SHGC-12987;SHGC-141822;SHGC-142103;SHGC-142295;SHGC-142883;SHGC-14303;SHGC-146424;SHGC-79022;SHGC-79827;SHGC-79957;SHGC-82787;STS-N30417;UniSTS:50606;WI-16394;WI-16881;ha3092 ACRDYS2;DKFZp686M11213;DPDE3;FLJ97311;HSPDE4D;PDE43;PDE4DN2;STRK1 OTTHUMP00000221595;OTTHUMP00000221675;OTTHUMP00000221680;OTTHUMP00000221681;OTTHUMP00000221682;OTTHUMP00000221683;OTTHUMP00000221684;OTTHUMP00000221685;OTTHUMP00000221686;OTTHUMP00000221687;PDE43;cAMP-specific 3',5'-cyclic phosphodiesterase 4D;cAMP-specific phosphodiesterase 4D;cAMP-specific phosphodiesterase PDE4D6;dunce-like phosphodiesterase E3;phosphodiesterase 4D, cAMP-specific (dunce;phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila);phosphodiesterase E3 dunce homolog APPROVED protein-coding ENSG00000113448 8783 02530 600129;606799;614613 REVIEWED 732674 PDE5A phosphodiesterase 5A, cGMP-specific This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 4 4 q27 120634998 120769429 - 120415550 120549981 - 1581008;2314459;2314460;2314461;2314462;2314463;2314464;2314469;2314519;2314521;2314468;2314520;2314465;2314467;2314466;6480464;6907045;7248685 15665834;19729580;19881228;19542492;19474186;19129291;18787522;17287493;15920460;15578039;17339532;15667904;18538317;17606845;17610866;20563733 18029348;19139381;18757735;18635550;18293931;17906676;17138653;17017938;16690614;16407275;16381901;15817798;15640438;15489336;15489334;15240816;15175637;15093609;14764637;14668322;12955149;21421555;21525805;12650945;12604588;12554648;12477932;12359732;11896473;11602184;11358813;11230166;11162575;11076863;10859452;10679255;10679249;10411650;10393044;9716380;9714779;9642111;9115850;20177899;22843873;8889548;2168396;20491634;20553468;20555034;20590607;20595799;21215707;19852267;19996273;20196613;20308615;20332099;20332439;20346360;20351714;20379614;19961855;8557689;20861010;21425347;21193396;23033484;21697861;14687666;15938621;21505183;21890473;21987443;21736695;22960860 8654 C9JGT3;G5E9C5;H0YA14;O76074 AB001635;AB015656;ABBA01044712;ABBA01044713;ABBA01044714;ABBA01044715;ABBA01044716;AC080089;AC093752;AF043731;AF043732;AF155192;AF155193;AF155194;AF155195;AF319172;AJ004865;AK290189;AMYH01014484;AMYH01014485;AY264918;AY266363;BC126233;BM920622;BM978332;CD511199;CH471056;JQ286346;NM_001083;NM_033430;NM_033437 AAC63967;AAC63968;AAF40301;AAF40302;AAF40303;AAF40304;AAF40305;AAI26234;AAK08016;AAP21809;AAP31235;AAY40985;AEW91484;BAA33372;BAA81667;BAF82878;CAA06170;CAL37565;CAL37613;CAL37823;CAL37914;CAL38049;CAL38148;CAL38189;CAL38304;CAL38310;CAL38326;CAL38689;EAX05275;EAX05276;EAX05277;EAX05278;NP_001074;NP_236914;NP_246273;O76074 Hs.647971 1647330;1664445;1669081;1683561;1688346;1707990;1714941;1751959;1847055;1858514;2111135;2123178;2130773;2164021;2164023;2167225;2182719;2184483;2217708 A005V23;D4S1496E;D4S2545E;G16884;G20536;PDE5A_3019;RH120466;RH99284;SHGC-105975;SHGC-30471;SHGC-50306;SHGC-50828;SHGC-51775;SHGC-57812;SHGC-59290;SHGC-67646;SHGC-67914;SHGC-84659;SHGC4-1692 CGB-PDE;CN5A;PDE5;PDE5A1 OTTHUMP00000163923;OTTHUMP00000163924;cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase;cGMP-binding cGMP-specific phosphodiesterase;cGMP-specific 3',5'-cyclic phosphodiesterase;cGMP-specific phosphodiesterase PDE5A2;cGMP-specific phosphodiesterase type 5A;phosphodiesterase isozyme 5 APPROVED protein-coding ENSG00000138735 8784 04497 603310 REVIEWED 1315676 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008] 5 5 q31.2-q34 149220410 149304549 - 149237519 149324356 - 1580863;6480464;6893540;6907045;7240710 15224133 7493036;18723146;17110911;15001570;12477932;10393062;10373499;9770645;8889548;7698768;2169289;2155175;1672236;1326553;20110084;19946729;20940301;20591486;20628086;19913121;8557689;20801516;21039428;23033484;21697133;22939629;20301590 5145 O75316;P16499 AB593141;ABBA01026289;ABBA01026290;ABBA01026291;ABBA01026292;ABBA01026293;ABBA01026294;ABBA01026295;AC008427;AC008545;AF022380;AMYH01015703;AMYH01015704;BC035909;BC144044;BU734142;BX648986;CH471062;M26061;NG_009102;NM_000440 AAB69155;AAC33831;AAH35909;BAJ84077;EAW61756;EAW61757;NP_000431;P16499 Hs.567314 1653215;1675949;1693310;1697830;2115895;2136850;2142731;2217710;5015861;5016596;5037552;7185938;7187396 A003P11;D10S16;D2S2842;D8S2279;G42360;GDB:631802;PDE6A__2855;RH102440;RH93180;SGC31501;SHGC-53109;WI-12020 CGPR-A;PDEA;RP43 GMP-PDE alpha;OTTHUMP00000160522;PDE V-B1;cGMP phosphodiesterase alpha subunit;rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha;rod photoreceptor cGMP phosphodiesterase alpha subunit APPROVED protein-coding ENSG00000132915 8785 01570 180071;613810 REVIEWED 1320406 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] 10 10 q24 95362335 95415420 + 95372345 95425430 + 1580863;6480464;6893540;6907045;7240710 15224133 8641425;15164054;12477932;11394879;11329013;11076863;10393054;8543163;7490077;19615668;19801642;19887631;20351714;20379614;19913121;20628086;21127010;23033484;21267001;20301591 5146 P51160 ABBA01021866;AL157396;AL356214;AMYH01002960;AMYH01002961;BG206143;BG220856;CH471066;NG_016752;NM_006204;U20196;U20197;U20198;U20199;U20200;U20201;U20202;U20203;U20204;U20205;U20206;U20207;U20208;U20209;U20210;U20211;U20212;U31973;X94354 AAA92886;AAA96392;AAI11378;CAA64079;EAW50063;EAW50064;NP_006195;P51160 Hs.658121 2178652;2179112;5491985 PDE6C-1;RH79144;SHGC-31657 ACHM5;COD4;PDEA2 OTTHUMP00000020119;cGMP phosphodiesterase 6C;cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' APPROVED protein-coding ENSG00000095464 8787 02898 600827;613093 REVIEWED 1322283 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 4 4 p16.3 609373 654571 + 619363 664681 + 1580863;6480464;6893540;6907045;7240710 15224133 8394174;19218616;18854872;18188951;17249578;15489334;12778443;12760810;12477932;11943774;10373499;9543643;8956055;8768262;8698075;8640555;8595886;8557257;8394243;8075643;7951329;7724547;4369896;1720239;1338685;1326553;1322354;1315306;1313787;6493;20801516;19946729;20591486;20940301;8557689;23033484;23049240;21655355;20301590;21792086;17683050 5158 B4DHV7;C9J628;C9J7V6;H7C4F7;H7C4P9;P35913 ABBA01019336;ABBA01019337;AC107464;AI131517;AK295285;AK308789;AK309252;AK316054;AMYH01013838;BC000249;BC039412;BT009794;BX487988;CH471131;FJ417399;NG_009839;NM_000283;NM_001145291;NM_001145292;S41458;X62692;X66142;X90587 AAB22690;AAH00249;AAP88796;ABM86693;ABW03811;BAG58269;BAH14425;CAA44569;CAA46932;CAA62215;EAW82661;EAW82662;NP_000274;NP_001138763;NP_001138764;P35913 Hs.623810;Hs.654544 1673616;1680627;1683623;1742151;1742153;1742155;1797978;2136235;2154589;2157146;5015861;7185938 D10S16;GDB:192417;GDB:192426;GDB:192428;PDE6B_1997;RH80904;RH99115;SHGC-59575;SHGC-59751;SHGC-67900;WI-19161 CSNB3;CSNBAD2;PDEB;RP40;rd1 GMP-PDE beta;OTTHUMP00000216947;OTTHUMP00000216948;OTTHUMP00000216949;rod cGMP-phosphodiesterase beta-subunit;rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta APPROVED protein-coding ENSG00000133256 8786 01571 163500;180072;613801 REVIEWED 1314689 PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 2 2 q35-q36 232305391 232354218 - 232597147 232645974 - 1580863;6480464;6907045 11980706;9570951;18391951;16527812;16189514;16169070;15489334;12477932;11786539;10518933;10373499;9990021;9781033;9712853;9533031;16473576;21145461;23568457;23150559;21139048;22179043 5147 B8ZZK5;C9IZ52;O43924;Q6IB24 ABBA01002039;ABBA01002040;ABBA01002041;ABBA01002042;AC073476;AF022912;AF042835;AF045999;AJ001626;AMYH01011561;BC001054;BC007831;BC017467;BT007278;CH471063;CR456980;NM_002601 AAB87872;AAC25953;AAC39720;AAH07831;AAP35942;AAY24151;ABM84149;ABM87552;CAA04880;CAG33261;EAW70977;EAW70978;NP_002592;O43924 Hs.516808 2217712 PDE6D_3234 PDED GMP-PDE delta;OTTHUMP00000204402;OTTHUMP00000204404;protein p17;retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta protein-coding ENSG00000156973 8788 04056 602676 VALIDATED 735391 PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] 17 17 q25 77227894 77234038 - 79617489 79623607 - 1580863;1300048;6480464;6893540;6907045;7240710 15224133 7828894;16381901;15489336;15489334;14502124;12624098;12477932;12107411;11502744;11230166;11076863;8406511;8125719;2161380;1965799;1683837;20655036;8557689;15215290;19798052;20397626;20979602;20301590 5148 I3L446;P18545 ABBA01032158;AC139530;AMYH01008718;BC106884;BQ638010;BQ639132;BQ639341;BX537414;BX647779;CH471099;EL954528;M36476;NG_009834;NM_002602;NR_026872;U00480;U00482;X62025 AAA03653;AAA60044;AAI06885;CAA43975;CAD97656;CAL37980;CAL38593;EAW89666;NP_002593;P18545 Hs.654482 1722433;1779054;2217714 G60291;PDE6G_3210;STS-X62025 DKFZp686C0587;MGC125749;PDEG;RP57 GMP-PDE gamma;retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma;rod cG-PDE G APPROVED protein-coding ENSG00000185527 8789 08914 180073;613582 REVIEWED 1353241 PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010] 12 12 12 p13 20270954 20279795 + 15017245 15026066 + 15125956 15134799 + 1580863;6480464;6893540;6907045;7240710 15224133 17286855;8786098;15629837;15489334;12477932;12372317;2162841;15215290;20379614;8889548;17207965;22901948;21832049;20301591 5149 Q13956 ABBA01067887;AC020613;AMYH01004304;BC069774;BC069800;BC093738;BC093740;BU729922;CH471094;D45399;DQ980604;EL946662;NG_016859;NM_006205 AAH69774;AAH69800;AAH93738;AAH93740;ADQ32887;BAA08241;EAW96343;NP_006196;Q13956 Hs.54471 2217716 PDE6H_3028 ACHM6;RCD3 GMP-PDE gamma;OTTHUMP00000239347;retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma APPROVED protein-coding ENSG00000139053 8790 03116 601190;610024 REVIEWED 732248 PDE7B phosphodiesterase 7B The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009] 6 6 6 q23-q24 136913199 137257146 + 136214527 136558402 + 136172834 136516709 + 1580863;1300048;2312479;6480464;6907045 17376027 10618442;10814504;19033455;15489334;12477932;21383644;10872825;20798984;19913121;20628086;19850283;20201926;20558539;23535033;21362230;21120911;21796143;19322201;23453122 27115 H0Y689;Q9NP56 AB038040;AB209990;ABBA01025832;ABBA01025833;ABBA01025834;ABBA01025835;AF086025;AJ251860;AK290582;AL133319;AL138828;AL360178;AL512290;AMYH01016695;AMYH01016696;BC070267;BC075082;BC075083;CH471051;EF108327;HI505003;NG_011994;NM_018945 AAH70267;AAH75082;AAH75083;ABL14249;ABZ92522;BAA96537;BAE06072;BAF83271;CAB92441;CBX54288;EAW47956;EAW47957;NP_061818;Q9NP56 Hs.744230 1334735;1339154;1696762;1699892;1704940;1719387;1753231;1762983;1772837;1786040;5037552;7185316 D6S1626;D6S292;D8S2279;RH103554;RH123421;SHGC-110018;SHGC-146730;SHGC-155469;SHGC-77945;SHGC-79951;WI-16404 MGC88256;bA472E5.1 OTTHUMP00000017267;cAMP-specific 3',5'-cyclic phosphodiesterase 7B;high-affinity cAMP-specific 3',5'-cyclic phosphodiesterase;rolipram-insensitive phosphodiesterase type 7 APPROVED protein-coding ENSG00000171408 8792 06870 604645 REVIEWED 68570 PDE7A phosphodiesterase 7A The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] 8 8 q13 66793867 66916297 - 66626569 66753969 - 1580863;2312479;6480464;6907045 17376027 8389765;18420479;16344560;15994308;12737631;12477932;12388353;12067300;11812656;11371644;11156964;10913353;10393044;9521885;9195912;8009369;19913121;20628086;20379614;8943082;14702039;15146197;16341674 5150 E5RG23;Q13946 ABBA01041864;ABBA01041865;ABBA01041866;ABBA01041867;AC055822;AC100812;AF332652;AI632383;AJ457788;AK057586;AK290801;AK292680;AMYH01018770;AMYH01018771;AW387924;AY266364;BC058025;BC126360;BM818331;CH471068;CN414361;DB146108;DB460103;DR000686;FB775500;HI504999;HI505001;N49050;NG_029614;NM_001242318;NM_002603;U67932 AAB65772;AAI26361;AAK57640;AAP31236;ADR83172;BAF83490;BAF85369;CAD29836;CAV30707;CBX54286;CBX54287;EAW86883;EAW86884;EAW86885;EAW86886;NP_001229247;NP_002594;Q13946 Hs.527119 1664273;1675579;1678639;1679533;1686422;1763739;1767614;1854520;1856440;2137357;2175657;5016596 D8S2079;GDB:631802;RH12246;RH65768;RH68578;RH75847;RH79995;RH91483;RH99308;SHGC-147415;STS-H62543;WI-11860 HCP1;PDE7 OTTHUMP00000226777;OTTHUMP00000226778;TM22;high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A;phosphodiesterase isozyme 7 APPROVED protein-coding 8791 01386 171885 REVIEWED 1601777 PDE8A phosphodiesterase 8A The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 15 15 q25.3 83326209 83483377 + 85523744 85682376 + 2312479;6480464;6907045 17376027 9618252;18029348;18983167;15596729;15489334;14702039;12681444;12477932;12045112;11738832;11371644;22318606;22673573;11156964;19482904;19913121;20628086;20719862;23568457;21920574;21906983;23509299 5151 E9PIJ0;H0YKR1;H0YNP3;Q96T71 ABBA01052951;ABBA01052952;ABBA01052953;AC027078;AC087468;AF056490;AF332653;AF388183;AF388184;AF388185;AF388186;AF388187;AF388188;AI767983;AK074280;AK122689;AK127232;AL109687;AL109778;AL109789;AMYH01006872;AMYH01006873;BC013825;BC017164;BC036190;BC037260;BC048317;BC060762;BC075822;CH471101;NG_029630;NM_001243137;NM_002605;NM_173454 AAC39763;AAH48317;AAH60762;AAH75822;AAK57641;AAL18610;AAL18611;AAL18612;AAL18613;AAL18614;BAG53669;BAG54458;CAB52020;CAB52432;CAB52453;EAX01965;EAX01966;EAX01967;EAX01968;EAX01969;EAX01970;NP_001230066;NP_002596;NP_775656;O60658 Hs.9333 1672961;1684270;1767236;1778310;2108863;2127992;2151429;2154235;2154237;2160860;2164277;2177482;2179139;2183121;2187662;7186793 A001T02;A008L24;D15S135E;G19611;PDE8A_7736;RH44511;RH66263;RH98243;SGC31715;SHGC-35120;STS-AA039638;STS-R05505;STS-R97428;T02909;WI-19329 FLJ16150;HsT19550 OTTHUMP00000192898;OTTHUMP00000192899;cAMP-specific cyclic nucleotide phosphodiesterase 8A;high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A;high-affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A APPROVED protein-coding ENSG00000073417 8793 09114 602972 REVIEWED 1348334 PDE8B phosphodiesterase 8B The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] 5 5 q13.3 76542462 76758999 + 76506706 76724081 + 1580863;2312479;6480464;6907045;7240710 17376027 9784418;19429701;18514160;18431404;15489334;15144186;14702039;12895443;12681444;12477932;12372422;11502813;10737800;21502949;19820008;20085714;20373981;20379614;15210883;21317282;22494929;22084153;21628590;22493691;23408906;21963094;22335482;22781450;23237535 8622 B3KN77;D6R9W0;D6RH10;D6RJD7;O95263 AB085824;AB085825;AB085826;AB085827;ABBA01061980;ABBA01061981;AC010234;AC022414;AC022422;AF079529;AK002074;AK023913;AL831924;AMYH01015426;AMYH01015427;AY129948;AY129949;AY129950;AY423729;BC035144;BC043209;BC047627;BE169437;BF109581;BI005015;BI677296;BU071384;CH471084;NG_023364;NM_001029851;NM_001029852;NM_001029853;NM_001029854;NM_003719 AAC69564;AAH35144;AAH47627;AAI56216;AAI56988;AAN71723;AAN71724;AAN71725;AAN71726;AAN71727;AAS00492;BAC53762;BAC53763;BAC53764;BAC53765;BAG51011;BAG51239;CAD38584;EAW95798;EAW95799;EAW95800;EAW95801;EAW95802;EAW95803;EAW95804;NP_001025022;NP_001025023;NP_001025024;NP_001025025;NP_003710;O95263 Hs.584830 1335998;1339509;1650398;1659804;1668866;1687229;1716675;1758195;1759985;1760059;1774150;2140109;2144152;2155264;2184546;2217718;5491701 D5S1962;D5S2041;D5S2464;D5S2596;L28264;MARC_8167-8168:996688348:1;PDE8B_3075;RH121596;RH45834;RH47147;RH91844;SGC38064;SHGC-107547;SHGC-111880;SHGC-147635;WI-15505;WI-15757 ADSD;FLJ11212;PPNAD3 3',5' cyclic nucleotide phosphodiesterase 8B;OTTHUMP00000128363;OTTHUMP00000222106;OTTHUMP00000222107;OTTHUMP00000222108;OTTHUMP00000222109;cell proliferation-inducing gene 22 protein;high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B;hsPDE8B APPROVED protein-coding ENSG00000113231 8794 04546 603390;609161;614190 REVIEWED 733534 PDE9A phosphodiesterase 9A The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.3 42946931 43068688 + 44073862 44195619 + 1580863;6480464;6907045 9856478;16780588;19214142;17090334;17008408;16189514;15489334;15210993;14702039;14527714;12565835;12477932;10830953;9624146;19060904;20351714;20379614;8557689;21736695;21336703;22328573;22424883;22960860 5152 F5GWD0;Q86WN6 AB017602;ABBA01004532;ABBA01004533;ABBA01004534;ABBA01004535;AF048837;AF067223;AF067224;AF067225;AF067226;AI492065;AK001165;AK001307;AK074662;AK127770;AK294112;AK308753;AK314679;AMYH01012270;AP001626;AP001627;AP001628;AP001747;AY196299;AY196300;AY196301;AY196302;AY196303;AY196304;AY196305;AY196306;AY196307;AY196308;AY196309;AY196310;AY196311;AY196312;AY196313;AY196314;AY242121;AY701187;BC009047;BT007016;CH471079;NM_001001567;NM_001001568;NM_001001569;NM_001001570;NM_001001571;NM_001001572;NM_001001573;NM_001001574;NM_001001575;NM_001001576;NM_001001577;NM_001001578;NM_001001579;NM_001001580;NM_001001581;NM_001001582;NM_001001583;NM_001001584;NM_001001585;NM_002606 AAC26723;AAC26724;AAC26725;AAC26726;AAC39778;AAH09047;AAO34685;AAO34686;AAO34687;AAO34688;AAO34689;AAO34690;AAO34691;AAO34692;AAO34693;AAO34694;AAO34695;AAO34696;AAO34697;AAO34698;AAO34699;AAO34700;AAO88210;AAP35662;AAV84271;ACT64465;ACT64466;BAA88847;BAA95552;BAC11120;BAG37232;BAG57446;EAX09531;EAX09532;EAX09533;EAX09534;EAX09535;EAX09536;EAX09537;EAX09538;EAX09539;EAX09540;EAX09541;EAX09542;EAX09543;EAX09544;EAX09545;EAX09546;EAX09547;EAX09548;EAX09549;NP_001001567;NP_001001568;NP_001001569;NP_001001570;NP_001001571;NP_001001572;NP_001001573;NP_001001574;NP_001001575;NP_001001576;NP_001001577;NP_001001578;NP_001001579;NP_001001580;NP_001001581;NP_001001582;NP_001001583;NP_001001584;NP_001001585;NP_002597;O76083 Hs.473927 1342054;1655921;1730890;1751997;1775058;1790601;2147635;2175780;2180669 D21S113;D21S1411;D21S1974;IB381;RH78209;SHGC-105989;SHGC-57530;SHGC-87675;STS_CEB239 FLJ90181;HSPDE9A2 CGMP-specific 3',5'-cyclic phosphodiesterase type 9;OTTHUMP00000109388;OTTHUMP00000109389;OTTHUMP00000109390;OTTHUMP00000109391;OTTHUMP00000109392;OTTHUMP00000109393;OTTHUMP00000109394;OTTHUMP00000109395;OTTHUMP00000109396;OTTHUMP00000109397;OTTHUMP00000109398;OTTHUMP00000109399;OTTHUMP00000109400;high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A;phosphodiesterase PDE9A21 APPROVED protein-coding ENSG00000160191 8795 09115 602973 REVIEWED 1605961 PDF peptide deformylase (mitochondrial) Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008] 16 16 16 q22.1 53877064 53879038 - 67920025 67921999 - 69362524 69364498 - 6480464 12417987;15489958;19236878;15489334;14637138;14532271;12924944;12477932;11060042;19064571;21805148;22554513 64146 Q9HBH1 ABBA01025526;AC026464;AF239156;AF322879;AMYH01007767;BC019912;CH471092;NG_009013;NG_033043;NM_022341 AAG33968;AAH19912;AAK15624;EAW83265;EAW83268;NP_071736;Q9HBH1 Hs.130849 1662087;1689793 RH48796;SHGC-34961 OTTHUMP00000205444;OTTHUMP00000245836;peptide deformylase, mitochondrial;peptide deformylase-like protein;polypeptide deformylase APPROVED protein-coding ENSG00000258429 30012 17829 REVIEWED 736070 PDGFA platelet-derived growth factor alpha polypeptide The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor beta polypeptide, where the dimers are connected by disulfide bonds. Studies using knockout mice have shown cellular defects in oligodendrocytes, alveolar smooth muscle cells, and Leydig cells in the testis; knockout mice die either as embryos or shortly after birth. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 p22 503421 526007 - 536895 559481 - 1580847;1580863;2289672;2292153;2292158;2292203;2311066;2298579;2298582;2292156;2292161;2311649;2292155;2292163;6480464;6484113;6907045 8447423;17439406;16294022;18205704;17519529;11005132;11994382;9200407;7524068;16601314;12808179;8619189;16383039 291037;2538439;2836953;8900172;7073684;2439522;2536956;3754619;10508235;2842868;9409235;10806482;17470632;287022;19559929;19141566;18992915;18814141;18808740;18592007;18332228;18326546;18284546;18174235;18084257;17984069;17958740;17944929;17933214;17852407;17578349;16850112;16760468;16462734;16344560;15890262;15829977;15631865;14997209;14708943;14705808;14633628;14573617;12972619;12850832;12670890;12670444;12645527;12615918;12576295;12477932;12411321;11678848;10681572;10598812;10358027;9837894;9692901;8780057;8486521;3666150;3614364;3614363;3422746;19493486;21931722;21771201;2832727;2544881;2315311;1848007;1612586;1512241;1505216;1360804;1317862;1311092;1281549;612586;8443409;1997274;22617683;21645144;20224347;20534510;20220555;19707201;19956642;20036812;20036815;20083221;20202860;8647855;9739761;20485444;20730440;22266848;12070119;20822908;17087110;11788434;19019919;22949635;21187969;22733151;22704695;21559523;21906875;22174424;23025904;21769672;21993555;22393407;23536282;21919032;22588000 5154 H7BYW6;P04085 A09204;A37535;A37560;A41773;AACC02000165;AACC02000166;AACC02000167;AACC02000168;AB451309;AB451439;ABBA01039289;ABBA01039290;ABBA01039291;AC147651;AF085245;AJ238420;AK292217;AMYH01016935;AMYH01016936;AU118732;BC109246;BE336646;BQ001096;BQ002008;CH236966;CH471144;CQ858324;CS172381;CS172825;CS367416;HC040701;M19984;M19985;M19986;M19987;M19988;M19989;M20488;M20489;M20490;M20491;M20492;M20493;M20494;M21571;M59423;M83575;NG_029727;NM_002607;NM_033023;S50869;S51624;S62078;X03795;X06374 AAA60045;AAA60046;AAA60047;AAB26566;AAD13863;AAD13864;AAI09247;AAI41594;AAI46595;AAK29998;AAN76486;BAF84906;BAG70123;BAG70253;CAA00830;CAA02288;CAA02293;CAA02624;CAA27421;CAA29677;CAB59509;CAH23423;CAJ32894;CAJ32906;CAL32765;CBH30541;EAW87160;EAW87161;EAW87162;NP_002598;NP_148983;P04085 Hs.535898 1342066;1662129;1725621;1730247;1773103;1786236;2107525;2116668;2129465;2173088 D7S2563;D7S2747;D7S540E;G10519;G62094;PDGFA;PRKAR1B;PRKAR1B__7235;SGC35032;SHGC-130833 PDGF-A;PDGF1 OTTHUMP00000199955;OTTHUMP00000199956;PDGF A-chain;PDGF subunit A;PDGF-1;platelet-derived growth factor A chain;platelet-derived growth factor alpha chain;platelet-derived growth factor alpha isoform 2 preproprotein;platelet-derived growth factor subunit A APPROVED protein-coding ENSG00000197461 8799 01424 173430 REVIEWED 68605 PDGFC platelet derived growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] 4 4 q32 157902214 158111996 - 157682763 157892546 - 6480464;6484113;6907045 19111878;19092777;18588873;18573494;17482170;16443219;15911618;15728360;15389578;15061151;12975309;12707385;12598536;12477932;12176024;12032822;11342471;11313995;11297552;11004490;10858496;10806482;15207811;19553600;19569180;19786962;19968886;20452482;19913121;20485444;20628086;20634891;20673868;20819778;21118967;23029525;21993555;22035541;22581228 56034 B4E3A5;H0Y9N2;J3KN71;Q9NRA1 AB033831;ABBA01070187;ABBA01070188;AC092608;AC093325;AF091434;AF244813;AF260738;AI446155;AK300480;AK304638;AK313817;AM922296;AMYH01014637;AY358493;BC041783;BC051876;BC094746;BC136662;BC144348;CH471056;CQ858328;CS019501;CS070836;CS367440;CS430816;GM867508;NM_016205;NR_036641 AAF00049;AAF80597;AAI36663;AAK51637;AAQ88857;AAY40906;BAB03266;BAG36553;BAG62196;BAG65417;CAH23469;CAI58839;CAI93202;CAL33851;CAL60145;CAP58278;CAT16763;EAX04874;EAX04875;NP_057289;Q9NRA1 Hs.570855 1334788;1648576;1659000;1687213;1701308;1728709;1773538;2164778 AFM290vc5;D4S1589;D4S949;G63726;RH104283;SHGC-50156;SHGC-59762;SHGC-68226 FALLOTEIN;SCDGF OTTHUMP00000220751;OTTHUMP00000220752;OTTHUMP00000228241;PDGF-C;VEGF-E;platelet-derived growth factor C;secretory growth factor-like protein;spinal cord-derived growth factor APPROVED protein-coding 8801 10529 608452 REVIEWED 7175945 PDHA1P1 pyruvate dehydrogenase (lipoamide) alpha 1 pseudogene 1 3 p14.3 57785781 57787176 - 100132534 ABBA01024403;AC099777;AMYH01013225;NG_007303 pseudo 44636 INFERRED 1604286 PDGFD platelet derived growth factor D The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 q22.3 103283124 103540237 - 103777914 104035027 - 6480464;6484113;6907045 19028801;18997817;18600092;18573494;18403754;18258854;18187181;18056465;16189269;15988036;15611105;15489334;15271796;14514732;12975309;12477932;12427128;12107412;11980634;11342471;11331882;11331881;11162582;20406896;15207811;18471357;19357108;19544444;19733850;20379614;19913121;20628086;21098708;21507922;21347282;21378988;22704460;22415093;21890473;22689130;22289441;22471482 80310 H0YD37;Q9GZP0 AB033832;ABBA01039920;ABBA01039921;ABBA01039922;AF113216;AF335584;AF336376;AI962915;AK292801;AMYH01003996;AMYH01003997;AMYH01003998;AP003043;AP003502;AP004551;AY027517;AY027518;AY359116;BC030645;BG722948;CH471065;CQ858309;GM867543;HC437559;NM_025208;NM_033135 AAG39287;AAH30645;AAK20081;AAK20082;AAK38840;AAK56136;AAQ89474;ADZ15749;BAB18903;BAF85490;CAH23468;CAT16765;CBJ57251;EAW67045;EAW67046;NP_079484;NP_149126;Q9GZP0 Hs.352298 1677502;1680509;1736808;1737117;1757857;2111832;2180768 D11S2909;D11S4506;D11S4670;D15S794;RH92113;RH99280;SHGC-146711 IEGF;MGC26867;MSTP036;SCDGF-B;SCDGFB OTTHUMP00000231596;OTTHUMP00000231641;PDGF-D;iris-expressed growth factor;platelet-derived growth factor D;spinal cord derived growth factor B;spinal cord-derived growth factor B;spinal cord-derived growth factor-B APPROVED protein-coding ENSG00000170962 30620 17830 609673 REVIEWED 737124 PDGFB platelet-derived growth factor beta polypeptide The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer (PDGF-BB) or as a heterodimer with the platelet-derived growth factor alpha polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2013] 22 22 q13.1 37949665 37970936 - 39619685 39640957 - 1580847;1580850;1580863;2292179;2292153;2292173;2292200;2292211;2311066;2311646;2298579;2311648;2311650;1581759;2292203;2292195;6480464;6482691;6482306;6482787;6482653;6482858;6483042;6482660;6482796;6482830;6482831;6483007;6482859;6483060;6482756;6483071;6484113;6482673;6907045;7240710 8447423;12819032;16596190;16294022;17674348;8504434;12533868;11005132;15067514;11994382;14685146;8094359;12606528;17519529;12641779;11780721;21568693;21368226;1708827;22407906;21367419;17195235;21211989;22539040;22523431;21750433;21819559;21255638;21868503;21216974;8644858 22021110;291037;2538439;8900172;7073684;2836953;1661670;17991872;2439522;2536956;9685360;9409235;287022;19498003;19219070;19091791;18973553;18819098;18772331;18758297;18700164;18573259;18570917;18478301;18456732;18420995;18326546;18325189;18310286;18300076;18239136;18075302;18069662;17998143;17981115;17958740;17950782;17944929;17724602;17671690;17626901;17608589;17545544;17518657;17431412;17395886;17341683;17338425;17292826;17229887;17227125;17157157;16893901;16847823;16843106;16777970;16709185;16641085;16477226;21171016;22279551;22104124;16227675;16149045;16081426;16007151;15956925;15919668;15915457;15826941;15695519;15522237;15496150;15489334;15461802;15081117;14997209;14760763;14705808;14702039;14643521;14595114;12960151;12850832;12850807;12660034;12615918;12576295;12477932;12411321;12176024;12127408;12034531;12023768;11903042;11854294;11811779;11498506;11331882;10681572;10591208;10485711;10446987;10409733;9692901;9334164;9057949;8988177;8889548;8780057;8697155;8174076;7896901;7659502;6844921;6740330;6336312;6329745;6327048;6318322;6306471;6297002;6091919;4033772;3969118;3517869;3472769;3456904;3275870;3023958;2991848;2845420;2544881;2212004;1906887;1396586;1317862;1311092;15897913;21175804;20224347;18471357;19447872;19451595;19576918;19584075;19628565;19635106;19696027;19890351;19956642;20019669;20036421;20042679;20061935;20083221;20233927;20452482;8647855;9739761;17074267;19913121;20485444;20628086;20628624;20673868;20694560;20717068;20950212;20739660;20406730;19728062;20624165;21111450;12070119;20822908;21102276;21321954;21124835;10644978;10734101;11264163;11788434;16530387;17942966;19019919;21118571;21129745;21754979;20681813;21766497;21429937;21618276;21921666;21956466;17324121;16014047;21769672;22038837;22174424;22200892;22619279;22133064;21764712;22922228;23199263;19060904;22689130;23042547;22908324;23207290;21483469;21919032;23537647;22688015;22711911 5155 A9UJN9;A9UJP0;P01127 A37537;A37562;ABBA01055556;ABBA01055557;AK022920;AMYH01012776;BC029822;BC077725;BM983641;CH471095;CQ858326;CR456538;CR541807;CS172383;CS172827;CS367418;HC040703;K01401;K01913;K01914;K01915;K01916;K01917;M12783;M19719;M32009;NG_012111;NM_002608;NM_033016;X00560;X00561;X00562;X02744;X02811;X03702;X83705;X98706;Z81010 AAA60349;AAA60552;AAA60553;AAA98793;AAH29822;AAH77725;CAA02289;CAA02294;CAA25227;CAA25228;CAA25229;CAA25230;CAA26524;CAA26579;CAA27333;CAA58679;CAA67262;CAG30424;CAG46606;CAH23424;CAJ32895;CAJ32907;CAK54569;CAK54868;CAL32766;CBH30542;EAW60305;EAW60306;EAW60307;EAW60308;NP_002599;NP_148937;P01127 Hs.1976 1742087;1744389;1775966;1796494 D22S1108;GDB:190930;GDB:452638;PDGFB_1020 FLJ12858;PDGF-2;PDGF2;SIS;SSV;c-sis OTTHUMP00000198980;OTTHUMP00000198981;OTTHUMP00000198982;OTTHUMP00000198983;PDGF subunit B;PDGF, B chain;PDGF-2;Platelet-derived growth factor, beta polypeptide (oncogene SIS);becaplermin;platelet-derived growth factor 2;platelet-derived growth factor B chain;platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog);platelet-derived growth factor subunit B;platelet-derived growth factor, B chain;proto-oncogene c-Sis APPROVED protein-coding ENSG00000100311 8800 01815 190040;607174 REVIEWED 1317560 PDGFRL platelet-derived growth factor receptor-like This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008] 8 8 p22-p21.3 17478986 17544903 + 17433942 17500642 + 1580863;6480464;7240710 7898930;15489334;12477932;7519877;15226608;16270321;16552773;18366601;18442402;20237496;20333786;22926996 5157 Q15198 AB020863;ABBA01021581;ABBA01021582;ABBA01021583;AC124069;AK289450;AMYH01018546;AMYH01018547;AP006248;BC010927;BQ446405;CH471080;CR541952;CS208027;D37965;HB867212;NG_023332;NM_006207 AAH10927;ABM83870;ABM87191;BAA07179;BAF82139;CAG46750;CAJ44939;CBF57592;EAW63811;NP_006198;Q15198 Hs.458573 1712106;1853353 G54102;SHGC-35410 PDGRL;PRLTS OTTHUMP00000161390;PDGF receptor beta-like tumor suppressor;PDGFR-like protein;platelet-derived growth factor receptor-like protein;platelet-derived growth factor-beta-like tumor suppressor APPROVED protein-coding ENSG00000104213 8805 05206 114500;114550;604584 REVIEWED 730916 PDGFRA platelet-derived growth factor receptor, alpha polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] 4 4 q12 54790204 54859169 + 55095264 55164412 + 1580848;1580849;1580863;2292154;2292178;2292163;2298578;2298580;2298579;2292156;2292165;1580851;2292157;2292177;2292199;2292203;2324850;2324851;6480464;6484113;6907045;7240710 15284118;14630792;8610136;16741576;16383039;15791568;11920744;11994382;7524068;15342968;15722379;12866380;17049587;8402626;17519529;14695158;7665222 20589679;21434524;22327316;2536956;10806482;2542288;10508235;17470632;19648886;19563658;19496203;19411681;19393245;19351817;19335066;19333949;19333919;21131919;19326424;19307738;19302534;19291337;19248967;19215021;19212337;19126548;19118897;19115205;19074885;19047372;19035305;18992915;18987651;18978678;18955458;18950958;18758297;18706197;18701889;18686281;18679424;18633616;18618605;18615679;18548106;18547963;18519768;18464291;18416137;18360281;18326546;18314611;18312355;18288404;18284546;18265649;18193045;18190445;18187489;18157090;18084259;18077793;18070887;18042065;17881156;17827398;17762857;17701174;17690840;17673922;17623951;17591942;17568391;17566086;17532173;17448020;17438095;17377585;17363728;17344284;17299092;17298867;17261495;17214097;17193822;17145809;17137731;17079230;17070723;17047316;16892550;16850112;16804324;16785193;16730575;16697720;16690743;16685437;16675559;16502585;16498388;16373964;16357008;16344560;16331269;16305343;16283668;16186508;16168125;16135486;16126374;16116920;15928335;15897742;15894928;15871904;15862965;15685537;15674355;15635072;15492989;15489334;15380338;15326474;15154005;14766209;14745431;14741194;12842979;12808148;12660384;12522257;12477932;12176024;12119411;12023424;11953315;11882663;11776032;11752456;11468294;11342471;11297552;11279102;11175793;11046132;10837138;10733900;10066366;9819414;9546424;9484840;8943348;8894141;8774134;8702949;8647858;8617789;8586421;8486649;8261442;8188664;7896447;7535778;7523122;7519254;2544881;2531695;2161888;18331602;1847074;1711435;9234717;19756614;20651400;21281241;21357737;20861712;20889717;11095946;18197502;18492696;18636362;19333543;19448595;19614767;19644140;19649203;19675092;19694830;19696981;19707201;19717644;19755855;19779861;19787330;19839721;19843560;19846951;19861461;19862822;19900103;19936766;19943934;19956635;20001342;20023271;20036812;20071345;20129251;20133985;20169295;20379614;20393746;20424473;20442296;20453000;20470368;8647855;9739761;20800603;20615084;20425130;20686603;20479398;20473908;21092857;22670177;20139978;20598160;19913121;20485444;20628086;20634891;20718716;21080877;21274753;21461555;20823768;21387320;21224473;21397860;21399396;21157293;22650155;22718859;22944561;21310211;21665993;21993628;21496277;21596750;21605429;21725412;20107158;21574155;22969067;21396851;21210262;10734113;1646396;21642621;2554309;22237707;22293178;22399613;21478825;19953087;21403518;21818111;22076173;22144915;22697462;22449154;21382095;15717329;21590454;21645144;21769672;21947029;22080864;22137795;21988832;23000965;23064464;22160160;22323597;21527588;22311673;22411791;17452978;22389665;22447844;22558483;22520943;22593460;22661233;22523564;22933705;22986233;23074200;23243022;21953054;23401653;22473090;22543129;22394371;21819482;22744707;23106360;23292839;23242283 5156 D6RDX0;D6RG11;D6RIG5;D6RJH0;P16234 AA599881;AA625689;ABBA01003401;ABBA01003402;AC098587;AC138779;AK308353;AK311006;AK316578;AMYH01014186;AV689272;BC015186;BC063414;CH471057;CS172399;CS172821;CS566148;D50017;DA678599;HC040719;L25829;M21574;M22734;M30494;NG_009250;NM_006206;X76079 AAA60048;AAA96715;AAH15186;AAH63414;BAA08742;BAG38166;CAJ33669;CAJ33686;CAN37625;CBH30545;EAX05457;EAX05458;NP_006197;P16234 Hs.74615 1647083;1669327;1675513;1694754;1709644;1745607;1774709;1796496;5117875 D4S1394;G34454;G43580;GDB:626067;GDB:626070;PDGFRA__1207;RH68733;SHGC-8069;SHGC-85185 CD140A;MGC74795;PDGFR-2;PDGFR2;RHEPDGFRA CD140 antigen-like family member A;CD140a antigen;OTTHUMP00000158882;OTTHUMP00000218656;PDGF-R-alpha;PDGFR-alpha;PDGFRA/BCR fusion;alpha platelet-derived growth factor receptor;alpha-type platelet-derived growth factor receptor;platelet-derived growth factor alpha receptor;platelet-derived growth factor receptor 2;platelet-derived growth factor receptor alpha;rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein APPROVED protein-coding ENSG00000134853 8803 01429 173490;606764;607685 REVIEWED 732897 PDGFRB platelet-derived growth factor receptor, beta polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008] 5 5 q33.1 149473595 149515615 - 149493402 149535422 - 1580850;1580851;1580863;2292203;2292200;2292214;2292206;2292178;2292228;2292215;2292198;2298578;2311646;2298579;2292211;2311654;2292174;2292176;2290496;6480464;6484113;6907045;7240710 12819032;15722379;17519529;8504434;12047046;15077122;16741576;17854058;11973598;15994946;15791568;15067514;11994382;12533868;10802145;17390053;17050049;16865223 17448020;2536956;2542288;17991872;17470632;10821867;19386600;19377443;19333949;19302534;19242504;19180499;19115205;19092051;19074885;19074160;19041155;19035305;19028276;19016370;19006078;18950621;18809244;18697203;18621860;18593464;18541413;18524994;18519768;18483410;18369471;18331602;18326546;18288404;18262053;18157090;18077793;17872908;17727656;17620338;17599906;17584975;17568996;17462601;17431412;17403678;17363728;17344284;17301821;17298867;17296564;17229632;17145809;17082185;17047316;16899864;16617096;16407661;16189514;16149045;16007172;15994317;15987639;15944146;15902258;15862965;15763428;15665766;15640155;15630487;15588985;15522237;15504957;15489334;15380338;15340161;15284236;15271984;15146197;15087372;15054045;14996833;14973141;14966296;14871970;14745431;14705808;14657000;14612918;14514732;12941951;12933652;12700668;12681492;12480944;12477932;12177062;12062403;11919393;11903042;11896619;11882663;11861293;11567151;11350938;11331882;11331881;11172806;11046132;11027258;10964931;10806474;10805725;10733900;10697503;10514377;10391677;10022833;9989826;9920285;9819414;9808151;9506992;9492013;9484840;9425276;9373237;9362449;9285559;9207175;9057949;9006901;8947043;8943344;8940081;8702949;8657151;8647858;8617789;8586421;8549654;8443409;8302579;8195171;8041791;7935391;7693727;7691811;7688466;7685273;7665222;7545675;7523122;3107886;2850496;2846185;2835772;2550144;2531695;2475255;2173144;2161888;2157284;1847074;1720539;1696179;1374684;1372092;10026169;9737977;1333047;11266449;10066366;10938113;15889147;7689724;8344248;1385407;7876130;7592796;7537362;8388538;8890167;19280218;20534510;21186266;20659339;17158602;19913121;20505768;20571834;20628086;20628624;16456542;16477012;17981115;18492696;19167335;19369415;19497963;19542682;19582773;19636022;19644140;19696027;19717644;19839721;19843560;19952113;20103629;20164181;20197394;20377208;20424473;20453000;8647855;9739761;20610572;20613589;21097719;20510677;20637704;20950212;20624165;21098708;12381737;12717448;20822908;21124835;21118571;22974441;22541084;21310211;1314164;1653029;2554309;21429937;21888769;20107158;21536039;21574155;21868707;21074616;21409488;22331939;19953087;21139048;21492463;21729646;22697462;21590454;21769672;21781317;21938754;22415093;21769866;22159994;21787840;15828871;18193084;19815557;15377662;22262849;22661233;16135792;22188481;22344267;22619173;23006663;12551917;20301594;23042547;22927028;22689130;22939624;23064464;22865780;17785434;23255827 5159 E5RH16;E5RII0;E5RJ14;P09619;Q59F04 AB209657;ABBA01026284;ABBA01026285;AC005895;AC011382;AI346188;AK293093;AMYH01015706;BC032224;CH471062;CN268096;EU826595;J03278;M21616;M30493;NG_023367;NM_002609;U33172 AAA36427;AAA60049;AAC51675;AAH32224;ABM83050;ABW03350;ACF47631;BAD92894;BAF85782;EAW61746;EAW61747;EAW61748;NP_002600;P09619 Hs.509067 1654774;1796498;1851272;2137122;2146771;2164001;2183212 D5S2602;D5S2862;PDGFRB_1343;RH11092;RH69916;WI-18300;WI-18889 CD140B;IBGC4;JTK12;PDGFR;PDGFR-1;PDGFR1 CD140 antigen-like family member B;OTTHUMP00000160528;PDGF-R-beta;PDGFR-beta;beta-type platelet-derived growth factor receptor;platelet-derived growth factor receptor 1;platelet-derived growth factor receptor beta APPROVED protein-coding ENSG00000113721 8804 01423 131440;173410;615007 REVIEWED 1351234 PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 4 4 4 q22-q23 94057862 94059248 + 96980262 96981648 + 96761239 96762625 + 1580863;2307427;6480464;6907045 11795479 2249846;17081983;15489334;12477932;11673873;11577086;11181995;10542321;7864652;2122529;1581363;20005141;20877624;16436377;22939629;22318606;21145461;22675509;22750801 5161 P29803 ABBA01063634;AC093828;AK313872;AMYH01014408;BC030697;BC066953;BC094760;BC119656;BC119657;BC127637;BC127638;CH471057;HC007208;HC044521;M86808;NM_005390;U23825 AAA60232;AAF14652;AAH30697;AAH66953;AAH94760;AAI19657;AAI19658;AAI27638;AAI27639;BAG36600;CBH19409;CBH30590;EAX06063;NP_005381;P29803 Hs.131361 1789689;2148343;2217720 PDHA2_3406;RW2;STS-M86808 MGC149517;MGC149518;PDHAL OTTHUMP00000161620;PDHE1-A type II;pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial;pyruvate dehydrogenase, E1-alpha polypeptide, testis specific protein-coding ENSG00000163114 8807 01531 179061 VALIDATED 1348495 PDIA3P protein disulfide isomerase family A, member 3 pseudogene 1 1 1 q21.1 122333319 122335417 - 145116054 145118152 + 146649430 146651528 + 9205111 171423 ABBA01004398;AC241584;AK295985;AL356378;AMYH01001373;BI712496;BM555251;NR_002305;U75886 BAG58760 Hs.658566 1736136;2139612;2209060 D15S1334;D1S2018E;stSG627935 ERp60;GRP58P pseudo 4607 PROVISIONAL 736556 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X p22.1 19271972 19287886 + 19362011 19379825 + 731230;1580863;1300048;2307427;6480464;6907045;7240710 10679936;11795479 17353931;3034892;18398624;18023225;17957032;17947500;17081983;17065338;16967364;16713755;16344560;15489334;15302935;14708897;14638692;12676647;12651851;12477932;11486000;11485553;10077682;9799265;9671272;9029794;9003499;8844217;8664900;8504306;8498846;8199595;8125298;8032855;7967473;7887409;7853374;7757088;7573035;7545958;3422424;2828359;2748588;2745444;2737678;2537010;2227443;1909401;1551669;1338114;1301207;1293379;7864652;16169070;15861126;20002461;19586787;19615732;2377599;7273846;7782287;20958858;20562859;1907799;21470495;22863883;16196087;21723463;19517265;23798571;21852536;22586326;21139048;21890473;21963094;22623428;21809123;21914562;21895644;22142326;21145461;22750801;19081061;22939629;22268729 5160 Q5JPT9;Q5JPU0;Q5JPU1;Q5JPU2;Q5JPU3;Q9UBU0 ABBA01071752;AF085457;AF125053;AF125054;AF125055;AF125056;AF125057;AF125058;AF125059;AF125060;AF125061;AF125062;AF125063;AF125064;AF125065;AF125066;AF125067;AF125068;AF125069;AF125070;AF125071;AF125072;AF125073;AF125074;AF125075;AF125076;AF125078;AF125079;AF125080;AF125081;AF125082;AF125083;AF125084;AF125085;AF125086;AF125087;AF125088;AK129887;AK222740;AK222988;AK293250;AK296341;AK296457;AK312263;AL732326;AMYH01022126;AW204705;BC002406;BU170389;CH471074;D90084;DA075402;DC361191;EF576990;EF590116;EF590117;J03503;J03575;L13318;L48690;M21447;M24848;M27257;NG_016781;NM_000284;NM_001173454;NM_001173455;NM_001173456;R49470;U75933;U75934;U75935;U75936;U75937;U75938;U75939;U75940;X52709;X52710 AAA31853;AAA36533;AAA60050;AAA60051;AAA60055;AAA60227;AAB39723;AAB39724;AAB39725;AAB39726;AAB39727;AAB39728;AAB39729;AAB39730;AAB59581;AAD16047;AAD23841;AAD23842;AAD23843;AAD23844;AAD23845;AAD23846;AAD23847;AAD23848;AAD23849;AAD23850;AAD23851;AAD23852;AAD23853;AAD23854;AAD23855;AAD23856;AAD23857;AAD23858;AAD23859;AAD23860;AAD23861;AAD23862;AAD23863;AAD23864;AAD23866;AAD23867;AAD23868;AAD23869;AAD23870;AAD23871;AAD23872;AAD23873;AAD23874;AAD23875;AAD23876;AAH02406;ABM82791;ABM85980;ABM85983;ABQ58815;ABQ59099;BAA14121;BAD96460;BAD96708;BAG35194;BAH11476;BAH12323;BAH12361;CAA36933;CAA36934;EAW98960;EAW98961;NP_000275;NP_001166925;NP_001166926;NP_001166927;P08559 Hs.530331 1645303;1676490;1689646;1701900;1701976;1703002;1729067;1741329;1741859;2145660 DXS9734;GDB:180536;GDB:186145;GDB:192510;GDB:438035;GDB:677354;Pdha1;RH65815;RH81017;RH93821 PDHA;PDHCE1A;PHE1A OTTHUMP00000023015;PDHE1-A type I;pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial;pyruvate dehydrogenase complex, E1-alpha polypeptide 1 APPROVED protein-coding ENSG00000131828 8806 02420 300502;308930;312170 REVIEWED 1352009 PDHX pyruvate dehydrogenase complex, component X The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009] 11 11 p13 34894741 34974095 + 34937677 35017675 + 1580863;2307427;6480464 11795479 17024456;16843025;16629643;16566017;16442803;16344560;16263718;16189514;15489334;14638692;12816949;12573248;12477932;12372595;11935326;11756538;9467010;9399911;9242632;9110174;8619474;8584393;7864652;2112155;20800603;20877624;10568747;12676647;16904023;7273846;21194677;22939629;21988832;21139048;22766002 8050 E9PB14;E9PLU0;E9PRI6;H0YD97;O00330 AA282215;ABBA01060862;ABBA01060863;AC107928;AF001437;AF052166;AJ298105;AK301384;AK312463;AL138810;AMYH01003489;BC010389;BI915296;BX648910;CH471064;DA573433;NG_013368;NM_001135024;NM_001166158;NM_003477;U79296;U82328;Y13145 AAB50223;AAB66315;AAC39661;AAH10389;ADZ15408;BAG35370;BAG62924;CAA73606;CAC18649;EAW68158;EAW68159;EAW68160;NP_001128496;NP_001159630;NP_003468;O00330 Hs.502315 2150240;2171406;2217722;5124285 A003A07;A008X12;PDHX_3485;RH65281 DLDBP;E3BP;OPDX;PDX1;proX OTTHUMP00000233038;OTTHUMP00000233039;OTTHUMP00000233040;dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex;lipoyl-containing pyruvate dehydrogenase complex component X;pyruvate dehydrogenase complex, E3-binding protein subunit;pyruvate dehydrogenase complex, lipoyl-containing component X;pyruvate dehydrogenase protein X component, mitochondrial APPROVED protein-coding ENSG00000110435 21350 02002 608769 REVIEWED 1313029 PDIA2 protein disulfide isomerase family A, member 2 Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 [PubMed 8561901]).[supplied by OMIM, Mar 2008] 16 16 p13.3 273119 277210 + 333118 337209 + 1580863;6480464 17474147;8561901;12095988;19429457;19187238;19150607;19103594;18801374;18691554;18508857;17978580;17055437;16677073;16407203;16344560;15489334;15225124;14684740;12766950;12485997;12477932;11968009;11488911;11157797;16507315;14592831;12218052;12218051;14500733;14980518;20130085;19913121;20448108;20516074;20628086;19636846;19805615;19821078;19844948;20098615;8537405;20562109;20550946;20163832;20423326;20368688;20886095;23167757;21297336;10970843;15590633;19942855;20802462;23454490;19261606;21471526;21791598;21757736;21929690;22105075;19864457;22090031;21637911;22773830;17301129;19038358;20202930;20458450;21080683;21121641;22230366;22685557 64714 H0Y4J5;Q13087;Q4TT65 ABBA01030378;ABBA01030379;AE006463;AK075485;AK124931;AK295383;AK308516;AMYH01006988;AMYH01006989;BC000537;BC027964;BC075029;CH471112;DA207692;NM_006849;U19948;Z69667;Z84717 AAC50401;AAH00537;AAH75029;AAI67826;AAK61223;BAG52154;BAG54115;BAG58339;CAI95586;CAI95587;CAI95588;CAO78188;EAW85838;NP_006840;Q13087 Hs.66581 1655114;1802292;1805108;1809156;1809570;1813390;2048468;2048470;2048472;2048474;2048476;2048478;2048480;2048482;2048484;2048486;2048488;2048490;2048492;2048494;2048496;2048498;2048500;2048502;2048504;2048506;2048508;2048510;2048512;2048514;2048516;2048518;2048520;2048522;2048524;2104586;2104588;2104590;2122394;2181597 ECD02030;ECD03496;ECD05568;ECD05777;ECD07716;REN95374;REN95375;REN95376;REN95377;REN95378;REN95379;REN95380;REN95381;REN95382;REN95383;REN95384;REN95385;REN95386;REN95387;REN95388;REN95389;REN95390;REN95391;REN95392;REN95393;REN95394;REN95396;REN95397;REN95398;REN95399;REN95400;REN95401;REN95402;REN95403;RH11656;RH44784;RH71265;stSG609003;stSG609005;stSG609008 PDA2;PDI;PDIP;PDIR OTTHUMP00000067350;OTTHUMP00000197166;Rho GDP dissociation inhibitor gamma;pancreas-specific protein disulfide isomerase;pancreatic protein disulfide isomerase;protein disulfide isomerase A2;protein disulfide isomerase, pancreatic;protein disulfide isomerase-associated 2;protein disulfide-isomerase A2 APPROVED protein-coding ENSG00000185615 14180 07617 608012 VALIDATED 1605694 PDIA5 protein disulfide isomerase family A, member 5 3 3 3 q21.1 121192646 121287739 + 124268655 124363567 + 122785856 122880953 + 6480464 7556671;16713569;14702039;14627699;12477932;16182193;15644496;12218052;12218051;20379614;22002444;20796029;16712791;17342744;17301129;22190034;22230366;22139419 10954 C9JY10;H7C4F9;Q14554;Q9BV43 ABBA01016462;ABBA01016463;AC083797;AK054963;AMYH01013432;BC001625;BM549365;CA414869;CB158962;CH471052;D49490;NM_006810;NR_028444 AAH01625;BAA08451;EAW79452;EAW79453;EAW79454;EAW79455;EAW79456;NP_006801;Q14554 Hs.477352 1338968;1706174;1709006;1749541;1759675;5021872;5125533 D3S3645;RH71326;SHGC-111245;SHGC-150764;SHGC-79570;SHGC-80611;sY3084 FLJ30401;PDIR OTTHUMP00000215811;OTTHUMP00000215812;protein disulfide isomerase-associated 5;protein disulfide isomerase-related protein;protein disulfide-isomerase A5 protein-coding ENSG00000065485 24811 08334 VALIDATED 1343920 PDHB pyruvate dehydrogenase (lipoamide) beta The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012] 3 3 p21.1-p14.2 58388394 58394605 - 58413357 58419579 - 1599115;1580863;2307427;6480464;6907045;7240710 15138885;11795479 18468620;2376596;18206651;18164639;17923481;16381901;15489336;15489334;12651851;12477932;11577086;11230166;11076863;9824306;8125298;7895732;7864652;3422424;2829898;2377599;2323578;2295468;1967901;1702713;21145461;14638692;15967462;20877624;12676647;16344560;7273846;8889548;16159877;22863883;22990118;19924563;23798571;19738201;21988832;19287380;21139048;21890473;21900206;21987572;19081061;22939629;22268729 5162 C9J634;F8WF02;P11177 AB209241;ABBA01024384;AC135507;AK225569;AK225621;AK293153;AK311514;AK313022;AL117618;AL706543;AMYH01013229;BC000439;BC001924;BC004115;BM971427;CH471055;CR541911;D90086;DA965753;DB039833;J03576;M19123;M34055;M34056;M34479;M54788;NG_016860;NM_000925;NM_001173468;NR_033384;X57778 AAA36428;AAA60052;AAA60053;AAA60054;AAA60233;AAA88097;AAH00439;AAH01924;ABM82292;ABM85472;BAA14123;BAD92478;BAG35857;BAG56698;CAA40924;CAB56017;CAG46709;CAL37877;CAL38156;EAW65371;EAW65372;EAW65373;NP_000916;NP_001166939;P11177 Hs.161357 1646597;1695014;1741455;1857437;5014023;5020635;5022578;5109281;5121841 D13S1553;D1S1423;D1S1425;D1S3203;D7S3207;G44720;GDB:181220;L30092;STS-J03576 DKFZp564K0164;PDHBD;PDHE1-B;PHE1B OTTHUMP00000214202;OTTHUMP00000214203;OTTHUMP00000214204;OTTHUMP00000214205;OTTHUMP00000214206;PDHE1-B;pyruvate dehydrogenase E1 component subunit beta, mitochondrial;pyruvate dehydrogenase, E1 beta polypeptide APPROVED protein-coding ENSG00000168291 8808 01530 179060;614111 REVIEWED 1606336 PDIA3 protein disulfide isomerase family A, member 3 This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. [provided by RefSeq, Jul 2008] 15 15 q15 41825882 41852096 + 44038590 44064804 + 6480464;6907045 22536838;9399589;3398923;16368681;17055437;8624847;7487104;16130169;19119025;19054761;18650385;18039656;17964282;17848102;17822402;17728248;17704119;11842220;11840567;11832422;10508608;10436013;9545232;9205111;9153243;9150948;9150946;8974399;8805302;8687406;8529662;1602151;1286669;1286667;16182193;15644496;12218052;12218051;12052826;17456022;17188166;17170699;17150345;17081065;17061245;16962936;16940051;16428306;16341674;16303743;16236267;16193070;16002696;15952740;15896298;15862831;15606899;15489334;15451439;15328618;15236594;14871899;14871896;14732712;12665801;12643545;12477932;12239218;12235131;12162574;12060494;12032078;18303019;20506389;20596667;20596672;17467700;18029348;19064571;19411306;19701894;19714814;19995546;20029959;20035634;20064506;10929008;21321085;21362330;22266712;23106098;21832049;22863883;22939629;23587917;23752268;21917082;19135240;20360068;21598303;21996511;22168334;12517784;21837552;21252943;22503978;12938929;21139048;21890473;22484374;21840908;22207023;22322599;12047747;14644099;19995400;21319273;19805454;20802462;21963094;22304920;22923333;23000965;23226417;17301129;22190034;22230366;22944692 2923 AAB37397;F8WBS6;F8WBW5;G5EA52;H7BZJ3;P30101 ABBA01039223;ABBA01039224;AC018512;AI769725;AK075455;AK075481;AK293249;AMYH01006607;BC014433;BC036000;BC071878;BE644608;BG826781;BM854408;CH471082;CS288579;D16234;D83485;JA462406;NM_005313;U42068;U75875;U75876;U75877;U75878;U75879;U75880;U75881;U75882;U75883;U75884;U75885;Z49835 AAB37397;AAC50331;AAC51518;AAH14433;AAH36000;AAH71878;ABM83996;ABM87324;BAA03759;BAA11928;BAG52144;BAG52151;BAG56782;CAA89996;CAK18760;CCD35251;EAW77234;EAW77235;EAW77236;NP_005304;P30101 Hs.591095 1681837;1721133;1736136;1798698;1799266;1801048;1803734;1803854;1809810;1811416;1811656;1812610;1812834;1813056;1818400;1820024;1822408;1823288;1829030;1833836;1836312;1837116;1838716;1841586;1842290;1842826;1842940;1933132;1933144;1933156;1933352;1933354;1933356;1933358;1933360;1933362;1933364;1933366;1933368;1933370;1933372;1933374;1933376;1933378;1933380;1933382;1933384;1933386;1933388;1933390;1933392;1933394;1933396;1933398;1933400;1933402;1933404;1933406;1933408;1933410;1933412;1933414;1933416;1933418;1933420;1933422;1933424;1933426;1933428;1933430;1933432;1933434;1933436;1933438;1933440;1933442;1933444;1933446;1933448;1933450;1933452;1933454;1933456;1933458;1933460;1933462;1933464;1933466;1933468;1933470;1933472;1933474;1933476;1933478;1933480;1933482;1933484;1933486;1933488;1933490;1933492;1933494;1933496;1933498;1933500;1933502;1933504;1933506;1933508;1933510;1933512;1933514;1933516;1933518;1933520;1933522;1933524;1933526;1933528;1933530;1933532;1933534;1933536;1933538;1933540;1933542;1933544;1933546;1933548;1933550;1933552;1933554;1933556;1933558;1933560;1933562;2139612;2208962;2209038;2209040;2209042;2209044;2209046;2209048;2209050;2209052;2209054;2209056;2209058;2209060;2209062;2209064;2209066;2209068 D15S1334;D1S2018E;ECD00189;ECD00481;ECD01392;ECD02774;ECD02838;ECD05897;ECD06706;ECD06831;ECD07315;ECD07430;ECD07547;ECD10258;ECD11084;ECD12292;ECD12733;ECD15642;ECD18064;ECD19318;ECD19723;ECD20536;ECD21990;ECD22348;ECD22620;ECD22678;G59551;REN37398;REN37404;REN37411;REN37509;REN37510;REN37511;REN37512;REN37513;REN37514;REN37515;REN37516;REN37517;REN37518;REN37519;REN37520;REN37521;REN37522;REN37523;REN37524;REN37525;REN37526;REN37527;REN37528;REN37529;REN37530;REN37531;REN37532;REN37533;REN37534;REN37535;REN37536;REN37537;REN37538;REN37539;REN37540;REN37541;REN37542;REN37543;REN37544;REN37545;REN37546;REN37547;REN37548;REN37549;REN37550;REN37551;REN37552;REN37553;REN37554;REN37555;REN37556;REN37557;REN37558;REN37559;REN37560;REN37561;REN37562;REN37563;REN37564;REN37565;REN37566;REN37567;REN37568;REN37569;REN37570;REN37571;REN37572;REN37573;REN37574;REN37575;REN37576;REN37577;REN37578;REN37579;REN37580;REN37581;REN37582;REN37583;REN37584;REN37585;REN37586;REN37587;REN37588;REN37589;REN37590;REN37591;REN37592;REN37593;REN37594;REN37595;REN37596;REN37597;REN37598;REN37599;REN37600;REN37601;REN37602;REN37603;REN37604;REN37605;REN37606;REN37607;REN37608;REN37609;REN37610;REN37611;REN37612;REN37613;REN37614;RH69689;stSG627845;stSG627922;stSG627924;stSG627925;stSG627926;stSG627927;stSG627928;stSG627929;stSG627930;stSG627932;stSG627933;stSG627934;stSG627935;stSG627936;stSG627937;stSG627938;stSG627939 ER60;ERp57;ERp60;ERp61;GRP57;GRP58;HsT17083;P58;PI-PLC 58 kDa glucose-regulated protein;58 kDa microsomal protein;ER protein 57;ER protein 60;OTTHUMP00000041709;disulfide isomerase ER-60;endoplasmic reticulum P58;endoplasmic reticulum resident protein 57;endoplasmic reticulum resident protein 60;glucose regulated protein, 58kDa;phospholipase C-alpha;protein disulfide isomerase-associated 3;protein disulfide-isomerase A3 APPROVED protein-coding ENSG00000167004 4606 03625 602046 REVIEWED 1605716 PDIA4 protein disulfide isomerase family A, member 4 7 7 q35 148331087 148356715 - 148700154 148725782 - 6480464;6907045 17353931;2295602;18620548;17081065;16344560;15489334;12690205;12643545;12477932;12475965;12397072;9847074;9694898;9006956;2549034;2002068;1512535;1318337;16182193;15644496;12218052;12218051;10887119;19995400;21319273;19834535;21320693;22939629;20000738;20360068;21743296;21900206;22586326;19322201;12938929;21139048;21890473;21906983;20881960;22863883;17301129;22190034;22230366 9601 C9JMN9;P13667 AACC02000041;ABBA01033606;ABBA01033607;ABBA01033608;AC093743;AK290971;AK313299;AMYH01018116;AU139362;BC000425;BC001928;BC006344;BC011754;BX330378;CH471146;CS288587;CX871856;NM_004911 AAH00425;AAH01928;AAH06344;AAH11754;AAQ96863;ABM84499;ABM85273;BAF83660;CAK18764;EAL24425;EAW80065;EAW80066;NP_004902;P13667 Hs.93659 1643636;1658316;2114802;2119782;2125949 D7S2640;G27935;RH12856;RH16208;RH47225 ERP70;ERP72;ERp-72 ER protein 70;ER protein 72;OTTHUMP00000196763;endoplasmic reticulum resident protein 70;endoplasmic reticulum resident protein 72;protein disulfide isomerase related protein (calcium-binding protein, intestinal-related);protein disulfide isomerase-associated 4;protein disulfide-isomerase A4 protein-coding ENSG00000155660 30167 06501 VALIDATED 1602970 PDILT protein disulfide isomerase-like, testis expressed 16 16 16 p12.3 19519698 19565466 - 20277993 20323534 - 20370492 20416033 - 6480464 15475357;14702039;12477932;22797727;20383146 204474 I3L1W7;Q8N807 ABBA01028278;ABBA01028279;AC106796;AC137056;AK097476;AMYH01007329;BC042607;BC044936;CH471186;NM_174924 AAH42607;AAH44936;BAC05068;EAW50316;NP_777584;Q8N807 Hs.376025 1644392;1733214;2133149 D16S2979;D16S3230;D16S366 PDIA7 OTTHUMP00000162211;protein disulfide isomerase family A, member 7;protein disulfide isomerase-like protein of the testis;protein disulfide-isomerase-like protein of the testis protein-coding ENSG00000169340 27338 15111 PROVISIONAL 1354298 PDIA6 protein disulfide isomerase family A, member 6 Protein disulfide isomerases (EC 5.3.4.1), such as PDIA6, are endoplasmic reticulum (ER) resident proteins that catalyze formation, reduction, and isomerization of disulfide bonds in proteins and are thought to play a role in folding of disulfide-bonded proteins (Hayano and Kikuchi, 1995 [PubMed 7590364]).[supplied by OMIM, Mar 2008] 2 2 p25.1 10840968 10870411 - 10923517 10952960 - 1580863;6480464;6907045 17353931;7590364;15308636;16130169;17495932;17081983;17081065;16964243;16396496;16236267;15952740;15489334;15466936;15302935;14702039;12643545;12477932;12204115;9110174;8619474;8125298;1602151;16182193;15644496;12218052;12218051;21145461;21319273;22863883;22939629;17215244;19887585;20379614;21139048;21890473;21906983;22167753;15280358;19135240;20000738;21110914;18781797;20360068;21081666;21628590;22215138;17301129;22190034;22230366;22268729;22645275 10130 B5MCQ5;B7Z254;C9JNG5;F8WA83;Q15084 ABBA01015631;AC092687;AK127433;AK131234;AK225496;AK289428;AK294347;AK297547;AMYH01010106;BC001312;BF979486;BM511594;CH471053;D49489;NM_005742;U79278 AAB50217;AAH01312;AAY24070;ABM82112;ABM85295;BAA08450;BAC86977;BAF82117;BAG54757;BAH11740;BAH12614;EAX00949;EAX00950;NP_005733;Q15084 Hs.212102 2156296;2160682;2163822;2166235 RH11818;RH70399;SGC31703;WI-18107 ERP5;P5;TXNDC7 ER protein 5;OTTHUMP00000115548;OTTHUMP00000200409;OTTHUMP00000200410;endoplasmic reticulum protein 5;protein disulfide isomerase P5;protein disulfide isomerase-associated 6;protein disulfide isomerase-related protein;protein disulfide-isomerase A6;thioredoxin domain containing 7 (protein disulfide isomerase);thioredoxin domain-containing protein 7 APPROVED protein-coding ENSG00000143870 30168 07504 611099 VALIDATED 1353771 PDLIM1P1 PDZ and LIM domain 1 pseudogene 1 14 14 14 q21.3 30384134 30385528 + 49586736 49588007 + 50517007 50518399 + 326616 ABBA01018128;AL117692;AMYH01005717;NG_002606 APPROVED pseudo 20026 INFERRED 7248362 PDLIM1P2 PDZ and LIM domain 1 pseudogene 2 100419426 ABBA01050469;AC068418;AMYH01008269;NG_026158 pseudo 48945 INFERRED 7248317 PDLIM1P3 PDZ and LIM domain 1 pseudogene 3 100419427 ABBA01015073;AC069061;AMYH01008274;NG_026160 pseudo 48946 INFERRED 7247933 PDLIM1P4 PDZ and LIM domain 1 pseudogene 4 100419185 ABBA01061816;AC106728;AMYH01013353;NG_025722 pseudo 48947 INFERRED 1352576 PDIK1L PDLIM1 interacting kinase 1 like 1 1 1 p36.11 24834353 24848731 + 26310913 26324628 + 26437656 26452039 + 1580863;6480464 16710414;16344560;15489334;14631099;12477932;8889548;19756140;8597870;15489335;21906983;22505724 149420 Q8N165 ABBA01034897;AF411102;AK312872;AL137407;AL391650;AL834290;AMYH01000396;BC028713;BC035401;BU742621;CH471059;CV024336;DA221039;DB227864;DB233669;NM_001243532;NM_001243533;NM_152835 AAH28713;AAN03661;BAG35724;CAD38964;EAX07845;EAX07846;EAX07847;NP_001230461;NP_001230462;NP_690048;Q8N165 Hs.468801;Hs.736837 1675209;2173817;5093532 A009Q18;G32774;SHGC-74390 CLIK1L;RP11-96L14.4;STK35L2 OTTHUMP00000008702;OTTHUMP00000008703;OTTHUMP00000008704;PDLIM1-interacting kinase 1-like;casein kinase;serine/threonine-protein kinase PDIK1L protein-coding ENSG00000175087 18981 15110 610785 VALIDATED 69480 PDK1 pyruvate dehydrogenase kinase, isozyme 1 Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 q31.1 173129025 173172108 + 173420779 173463862 + 1580863;2307427;2307428;6480464;6907045 11795479;17310282 20415663;7499431;18954447;18542064;17785433;17683942;16517405;16344560;15591305;15489334;14966024;14718574;14702039;12676647;12573248;12477932;11978179;11486000;11485553;10753910;7864652;12150926;11733037;11889038;10567431;15678105;19010391;20416077;11279232;20877624;18541534;17314099;21775285;21900206;18003900;22318606;22347420;22623531;22704111;22948140 5163 B7Z207;B7Z7N6;C9IYB4;C9JKT3;E9PD65;F8WC75;F8WEJ6;Q15118 ABBA01020743;AC018712;AC093818;AK056110;AK294194;AK302321;AK304388;AK312700;AMYH01011270;AU118504;BC039158;BQ023252;BX485353;CH471058;DC322401;DQ234350;L42450;NM_001278549;NM_002610;NR_103729;NR_103731 AAC42009;AAH39158;AAY14915;ABB29979;ABM82226;ABM84274;ABM85410;ABM87667;BAG35578;BAH11693;BAH13672;BAH14173;EAX11173;EAX11174;NP_001265478;NP_002601;Q15118 Hs.470633;Hs.733780 1683906;1695462;1699340;1734828;1796500;2111336 D2S1506E;D2S1584E;PDK1_1399;RH103257;RH80374;SHGC-68589 OTTHUMP00000163127;OTTHUMP00000205076;OTTHUMP00000205077;OTTHUMP00000205082;PDH kinase 1;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial;mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1;pyruvate dehydrogenase kinase, isoenzyme 1;pyruvate dehydrogenase kinase, isozyme 1 APPROVED protein-coding 8809 03954 602524 REVIEWED 1343163 PDK3 pyruvate dehydrogenase kinase, isozyme 3 The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] X X p22.11 24393475 24462463 + 24483344 24568583 + 1580863;2307427;2307428;6480464 11795479;17310282 17683942;7499431;18718909;17669420;17532006;16849321;15489334;15226823;14966024;12676647;12477932;12476789;11978179;11486000;11485553;10748134;15861126;20029029;22865452;21832049;21890473;20186120;22318606;22797925 5165 Q15120 ABBA01072323;ABBA01072324;ABBA01072325;ABBA01072326;ABBA01072327;ABBA01072328;ABBA01072329;ABBA01072330;ABBA01072331;ABBA01072332;ABBA01072333;ABBA01072334;ABBA01072335;AC004552;AC004656;AI001064;AI080664;AK301965;AMYH01022164;AW173304;BC015948;BC038512;BG717206;BI549903;BU069975;CH471074;L42452;NG_016762;NM_001142386;NM_005391 AAC42011;AAH15948;BAG63378;EAW99019;EAW99020;NP_001135858;NP_005382;Q15120 Hs.296031 1341358;1655006;1674061;1703134;1854087;1856334;2125569;2163131;2217724;5022588;5037552;5093706;5109281 A009V19;D1S1425;D5S1597E;D8S2279;DXS7446E;DXS8027;G32876;PDK3_2977;RH16353;RH17655;RH45979;SHGC-34422;SHGC-35685 OTTHUMP00000023083;OTTHUMP00000226873;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3, mitochondrial;pyruvate dehydrogenase kinase, isoenzyme 3;pyruvate dehydrogenase kinase, isozyme 3;pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial APPROVED protein-coding ENSG00000067992 8811 03956 REVIEWED 69481 PDK2 pyruvate dehydrogenase kinase, isozyme 2 This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 17 17 q21.33 45527695 45543422 + 48172101 48188733 + 1580863;2307427;2307428;6480464 11795479;17310282 15491151;15491150;15489334;15169745;14702039;12816949;12676647;12573248;12477932;11978179;11701428;11486000;11485553;11483605;10748134;10438924;10191262;7499431;18029348;19194729;19147752;18220415;18220414;17669420;16962287;16517984;16401071;15955060;11642366;15020699;15504108;16344560;20877624;16169070;19833728;21115670;22318606;21988832;22614004;22910903;22123926;23376776 5164 D6R983;D6RDN9;D6RGV8;D6RHG2;D6RJH7;Q15119 ABBA01041227;AC002401;AK055119;AK290522;AK293600;AK297089;AMYH01008470;AW302405;AW469593;BC005811;BC040478;BC063137;BQ024783;BQ071206;CH471109;DA199055;L42451;NM_001199898;NM_001199899;NM_001199900;NM_002611 AAC42010;AAH05811;AAH40478;AAH63137;ADZ15919;BAF83211;BAG51472;BAG57064;BAG59604;EAW94642;EAW94643;EAW94644;NP_001186827;NP_001186828;NP_001186829;NP_002602;Q15119 Hs.256667 1664004;1740071;1771270;1854459;1854461;2191799 A005W12;D17S1781;G20548;IB663;MARC_7915-7916:996688163:1;RH11762 PDHK2;PDKII OTTHUMP00000220889;OTTHUMP00000220890;OTTHUMP00000220957;PDH kinase 2;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 2, mitochondrial;pyruvate dehydrogenase kinase, isoenzyme 2;pyruvate dehydrogenase kinase, isozyme 2;pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial APPROVED protein-coding ENSG00000005882 8810 03955 602525 REVIEWED 69113 PDK4 pyruvate dehydrogenase kinase, isozyme 4 This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008] 7 7 q21.3 95050745 95063861 - 95212809 95225925 - 1580863;2307427;2307428;6480464 11795479;17310282 8798399;18660489;18658136;18519799;17669420;17652214;16757381;16344560;15955060;15776585;15721319;15618316;15581486;15516373;15489334;15047604;14966024;14702039;12853948;12690205;12676647;12606505;12582211;12573248;12477932;12145475;11978179;11701428;11486000;11485553;11001762;9787110;8125298;7499431;18468620;20877624;20715114;21852536;17623298;21904029;21906983;22019269;21883960;21963094;23050013 5166 A4D1H4;Q16654 AACC02000013;ABBA01045776;AC002451;AF334710;AK096428;AK098151;AK223328;AK312424;AMYH01017700;BC040239;CH236949;CH471091;DA923767;DB035430;NM_002612;U54617;U54618;U54619;U54620;U54621;U54622;U54623;U54624;U54625;U54626;U54627;U54628 AAB67048;AAC50669;AAC50670;AAH40239;ABM82182;ABM85367;BAD97048;BAG35334;BAG53287;BAG53583;EAL24128;EAW76757;EAW76758;EAW76759;NP_002603;Q16654 Hs.8364 1651786;1651915;1736336;1797980;1847779;2181988 2094;A002R16;D13S839E;D7S2331;PDK4_1720;RH70675 FLJ40832 OTTHUMP00000204768;[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial;pyruvate dehydrogenase kinase, isoenzyme 4;pyruvate dehydrogenase kinase, isozyme 4;pyruvate dehydrogenase, lipoamide, kinase isozyme 4, mitochondrial APPROVED protein-coding ENSG00000004799 8812 03957 602527 REVIEWED 68448 PDLIM1 PDZ and LIM domain 1 This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012] 10 10 q23.1 96987319 97040771 - 96997329 97050781 - 1580863;6480464 10753915;8522188;17213842;16609848;16189514;15592455;15489334;15164054;15144186;12665801;12477932;12464179;11973348;11882901;11110697;10861853;19117995;10022510;16169070;16385451;22863883;22922308;21680739;21651830;21900206;21139048;21890473;22851037;22939629 9124 O00151 ABBA01021839;AJ310549;AK314792;AL157834;AL160288;AMYH01002967;AMYH01002968;AY923052;BC000915;BC018755;CD368928;CH471066;HY025482;NM_020992;U90878 AAC05580;AAH00915;AAH18755;AAW82438;ABZ92393;BAG37323;CAC32846;EAW50009;EAW50010;EAW50011;EAW50012;NP_066272;O00151 Hs.368525 1695026;2135653;5100490 A002E05;D10S181E;G44727 CLIM1;CLP-36;CLP36;hCLIM1 C-terminal LIM domain protein 1;LIM domain protein CLP-36;OTTHUMP00000020137;PDZ and LIM domain 1 (elfin);PDZ and LIM domain protein 1;carboxy terminal LIM domain protein 1;carboxyl terminal LIM domain protein 1;elfin;enigma;pdz and lim domain 1 protein-coding ENSG00000107438 2067 09326 605900 REVIEWED 1345506 PDLIM2 PDZ and LIM domain 2 (mystique) This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 8 8 p21.3 22492588 22511483 + 22436254 22455538 + 6480464 12493773;19052146;17468759;15659642;15498874;15489334;14702039;12477932;11214971;8889548;18029348;19794962;20185823;20838382;15505042;21814175;21044950;21139048 64236 C9J0X3;C9J760;C9JS55;C9JSR2;C9K0F0;F8WFB8;Q96JY6 ABBA01005522;ABBA01005523;ABBA01005524;AC037459;AF289563;AK024498;AK027800;AK055582;AK055782;AK056748;AK074031;AK090432;AK092968;AMYH01018566;AY007729;AY070438;AY217349;BC021556;BC071774;BM674373;BU624103;BU737724;CH471080;DN997519;NG_030435;NM_021630;NM_176871;NM_198042 AAG16633;AAH21556;AAH71774;AAL55747;AAL65265;AAO45102;ABM84590;ABW03503;BAB15788;BAB55378;BAB84857;BAC03413;BAG51802;EAW63664;EAW63665;EAW63667;EAW63668;EAW63669;EAW63670;EAW63671;NP_067643;NP_789847;NP_932159;Q96JY6 Hs.632034 1738989;1846651;2113880;2140578;2219476;5022578;5022651;5108775 AB052137;D11S2921;D1S1423;D20S691;D3S1674;PDLIM2__5848;RH16479;SHGC-33970 FLJ34715;MYSTIQUE;SLIM OTTHUMP00000162522;OTTHUMP00000205197;OTTHUMP00000205198;OTTHUMP00000205199;OTTHUMP00000205200;OTTHUMP00000205201;OTTHUMP00000205202;OTTHUMP00000205203;OTTHUMP00000205207;PDZ and LIM domain protein 2;PDZ-LIM protein mystique APPROVED protein-coding ENSG00000120913 13992 17831 609722 REVIEWED 1351346 PDLIM3 PDZ and LIM domain 3 The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012] 4 4 q35 186659899 186693650 - 186421814 186456712 - 6480464 18029348;19412328;17258832;17254821;15489334;15084604;12477932;10063829;9334352;8828038;8125298;16192291;20801532;21549096;15203218;16344560;8661126;22412018 27295 D6RAF1;Q53GG5 ABBA01070534;ABBA01070535;ABBA01070536;AC106897;AF002280;AF002282;AF039018;AK129607;AK129863;AK222966;AK313253;AMYH01014776;BC001017;BC027870;BI913867;BT007341;BX647263;C03422;CD625728;CH471056;CR739525;DA898089;NG_032576;NM_001114107;NM_001257962;NM_001257963;NM_014476;NR_047562 AAB96665;AAC16670;AAC16672;AAH27870;AAP36005;BAC85195;BAD96686;BAG36063;EAX04638;EAX04639;EAX04640;EAX04641;NP_001107579;NP_001244891;NP_001244892;NP_055291;Q53GG5 Hs.701364 1298155;1673939;1681494;1695308;1735352;1735356;1766899;1779140;1849881;2124927;2161970;2187100;5024756;5095050;5125571 D4S2474E;D4S2478E;D4S2924;D4S475;PDLIM3;RH80030;RH94037;SHGC-152352;SHGC-58157;SHGC-59720;SHGC-59837;SHGC-63497;SHGC-63498;SHGC-67694;SHGC-67723 ALP;DKFZp686L0362;FLJ26096 OTTHUMP00000218153;OTTHUMP00000218154;PDZ and LIM domain protein 3;actinin-associated LIM protein;alpha-actinin-2-associated LIM protein;enigma homolog APPROVED protein-coding 20767 08388 605889 REVIEWED 1353458 PDLIM4 PDZ and LIM domain 4 This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009] 5 5 q31.1 131621286 131637046 + 131593351 131609147 + 1580863;6480464 10826496;19307596;19212833;19131452;19011242;17332327;16489065;16192286;16189514;15663004;15489334;15231747;14729062;12908099;12477932;11884147;9573374;8125298;19453261;17207965;22695491;21636573;22412388;21139048;23000965;23128233 8572 C9J542;P50479 ABBA01068808;AC034220;AF153882;AF154335;AK225407;AK313508;AMYH01015614;AW590987;BC003096;BC016765;BF689609;BF690514;BT007019;CH471062;DN997097;NG_015836;NM_001131027;NM_003687;U82997;X93510 AAC52072;AAD34646;AAD38070;AAH03096;AAH16765;AAP35665;ADQ32341;BAG36288;CAA63767;EAW62349;EAW62350;EAW62351;NP_001124499;NP_003678;P50479 Hs.424312 1338125;1798646;1801906;1802662;1805226;1806234;1806322;1807490;1807540;1807602;1808156;1808646;1808862;1812016;1812986;1820198;1822016;1822696;1827648;1843712;1847575;1997172;1997174;1997176;1997178;1997180;1997182;1997184;1997186;1997188;1997190;1997192;1997194;1997196;1997198;1997200;1997202;1997204;1997206;1997208;1997210;1997212;1997214;1997216;1997218;1997220;1997222;1997224;1997226;1997228;1997230;1997232;1997234;1997236;1997238;1997240;1997242;1997244;1997246;1997248;1997250;1997252;1997254;1997256;1997258;1997260;1997262;1997264;1997266;1997268;1997270;1997272;1997274;1997276;1997278;1997280;1997282;1997284;1997286;1997288;1997290;1997292;1997294;1997296;1997298;1997300;1997302;1997304;1997306;1997308;1997310;1997312;1997314;1997316;1997318;1997320;1997322;1997324;1997326;1997328;1997330;2095804;2095806;2095808;2095810;2095812;2095814;2095816;2095818;2095820;2095822;2095824;2095826;2095828;2095830;2219478 D5S1984;ECD00163;ECD01834;ECD02218;ECD03557;ECD04072;ECD04116;ECD04717;ECD04742;ECD04773;ECD05059;ECD05305;ECD05414;ECD07013;ECD07507;ECD11173;ECD12094;ECD12436;ECD14944;ECD23067;PDLIM4__5849;REN69497;REN69498;REN69499;REN69500;REN69501;REN69502;REN69503;REN69504;REN69505;REN69506;REN69507;REN69508;REN69509;REN69510;REN69511;REN69512;REN69513;REN69514;REN69515;REN69516;REN69517;REN69518;REN69519;REN69520;REN69521;REN69522;REN69523;REN69524;REN69525;REN69526;REN69527;REN69528;REN69529;REN69530;REN69531;REN69532;REN69533;REN69534;REN69535;REN69536;REN69537;REN69538;REN69539;REN69540;REN69541;REN69542;REN69543;REN69544;REN69545;REN69546;REN69547;REN69548;REN69549;REN69550;REN69551;REN69552;REN69553;REN69554;REN69555;REN69556;REN69557;REN69558;REN69559;REN69560;REN69561;REN69562;REN69563;REN69564;REN69565;REN69566;REN69567;REN69568;REN69569;REN69570;REN69571;REN69572;REN69573;REN69574;REN69575;REN69576;RH71300;stSG601147;stSG601148;stSG601149;stSG601150;stSG601151;stSG601152;stSG601153;stSG601154;stSG601155;stSG601156;stSG601157;stSG601158;stSG601159;stSG601160 RIL LIM domain protein;LIM protein RIL;OTTHUMP00000065964;OTTHUMP00000065965;OTTHUMP00000198263;PDZ and LIM domain protein 4;enigma homolog;reversion-induced LIM protein APPROVED protein-coding ENSG00000131435 16501 04571 603422 REVIEWED 1606830 PDLIM7 PDZ and LIM domain 7 (enigma) The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 5 5 q35.3 176843001 176857208 - 176910395 176924602 - 6480464 7929196;12477932;16713569;16446357;18989571;18618069;18412141;18395833;18215669;17805464;17126496;16803868;16611643;16189514;15635413;15489334;14702039;12176011;11874232;10704826;10359609;9528800;8940095;15946664;16382137;18029348;19269113;20348040;20636447;21060154;22939629;23097599;21061915;21139048;20360068;21987572;16775333;17510966;22417000;21864338;20732415;15231748;19379743;21150319;21988832;22241179;23000965;23088713 9260 D6RAN1;D6RF83;D6RH06;H0Y8W6;H7BYK4;Q9NR12 ABBA01033453;ABBA01033454;AC145098;AF265209;AF345904;AF345905;AF345906;AK096826;AMYH01015876;BC001093;BC007648;BC014521;BC067806;BC084575;BG714861;BG772677;BU956109;CB993539;CH471195;HY026171;L35240;NM_005451;NM_203352;NM_213636;NR_103804 AAC37565;AAF76152;AAH01093;AAH14521;AAH84575;AAK30567;AAK30568;AAK30569;ABM83061;ABM86255;EAW84985;EAW84986;EAW84987;EAW84988;NP_005442;NP_976227;NP_998801;Q9NR12 Hs.533040;Hs.736984 1689556;1746725;1765475;1791079;2110639;2119373 AV007930;PDLIM7_8917;RH65364;RH80795;SHGC-148959;STS_03 LMP1;LMP3 1110003B01Rik;LIM domain protein;LIM mineralization protein;LMP;Lim mineralization protein 3;OTTHUMP00000161442;OTTHUMP00000161444;OTTHUMP00000161445;OTTHUMP00000180646;OTTHUMP00000223829;OTTHUMP00000223831;OTTHUMP00000223833;PDZ and LIM domain protein 7;protein enigma APPROVED protein-coding ENSG00000196923 22958 10436 605903 REVIEWED 1349394 PDR pigment disorder, reticulate 7240710 5171 1339686 DXS989 8817 1344700 PDLIM5 PDZ and LIM domain 5 This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 4 4 q22 95592061 95808400 + 95373008 95589378 + 6480464 11256614;19328558;18496210;18496208;18456508;18197271;18021463;17287082;17081983;16595163;16549780;16381901;16344560;16213469;16044170;15555569;15489336;15489334;15362566;15346770;15342556;15334068;14743183;12665800;12477932;11230166;11076863;10833443;10429367;8940095;8889548;7698749;16189514;20564319;16713569;19448850;19767753;20878950;21266195;22863883;22939629;23031404;10737800;18296710;19596686;19636345;22118674;21139048;21890473;21906983;22589738;22741436 10611 B7Z481;B7Z8X5;D3YTJ1;D6RAA1;D6RB78;D6RGG6;E9PBF5;F5H0X8;F5H7Y0;H0Y8Y3;H0Y929;H0YBI4;Q96HC4 AA253314;AA614664;AA888262;AA922628;AB209531;ABBA01063621;ABBA01063622;ABBA01063623;AC093778;AC108067;AC109925;AF061258;AF116705;AI201986;AK027217;AK129886;AK291624;AK291898;AK296980;AK304125;AL049969;AL832157;AL832686;AL833151;AL833438;AL833439;AMYH01014403;AMYH01014404;AY345240;AY598328;BC008741;BC017902;BC026029;BF954250;BF979604;BM670741;BP260089;BQ049008;BT007328;CH471057;D31139;DA381128;DA895978;NM_001011513;NM_001011515;NM_001011516;NM_001256425;NM_001256426;NM_001256427;NM_001256428;NM_001256429;NM_006457;NR_046186 AAC15767;AAF71125;AAH08741;AAH17902;AAP35992;AAR09142;AAT06739;AAY40898;ABM81612;ABM84794;BAD92768;BAF84313;BAF84587;BAH12467;BAH14111;CAL38184;CAL38272;CAL38362;CAL38497;CAL38688;EAX06053;EAX06054;EAX06055;EAX06056;EAX06057;EAX06058;EAX06059;NP_001011513;NP_001011515;NP_001011516;NP_001243354;NP_001243355;NP_001243356;NP_001243357;NP_001243358;NP_006448;Q96HC4 Hs.480311;Hs.732677 1645871;1651330;1652474;1661112;1683028;1684144;1708636;1712713;1739589;1779016;1852623;2162281;2166951;2169828;2180142;2184230;5015404;5015959;5015961;5022200;5022578;5022651;5037552 D10S2448;D11S2921;D15S1477;D1S1423;D4S1159;D4S2569E;D4S964;D8S2279;D9S1746E;L17705;L18426;RH121053;RH36106;RH91416;RH91857;SHGC-24108;SHGC-59267;SHGC-63474;SHGC-63475;SHGC-67607;SHGC-67609;SHGC-85116;STS-AA009657 ENH;ENH1;L9;LIM OTTHUMP00000161598;OTTHUMP00000219307;OTTHUMP00000219309;OTTHUMP00000219310;OTTHUMP00000227958;PDZ and LIM domain protein 5;enigma homolog;enigma-like LIM domain protein;enigma-like PDZ and LIM domains protein APPROVED protein-coding ENSG00000163110 17468 05799 605904 REVIEWED 731545 PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] 8 8 q22.1 94998338 95007472 + 94929083 94938296 + 1642637;2307428;6480464;7240710 15897476;17310282 19184109;16344560;16188909;15855260;15489334;14702039;14527413;12477932;11577086;10931946;9651365;8889548;8396421;7782287;7757816;7566098;1327585;172850;12676647;20208177;20877624;21680880;21906983 54704 E5RFL8;E5RHB9;E5RI96;E5RIE5;E5RIV4;Q6P1N1;Q9P0J1 ABBA01037444;AC084346;AF155661;AK022057;AK057079;AK126862;AK302651;AL134195;AMYH01018883;AMYH01018884;BC047619;BC064978;BC098343;BM973633;BQ422289;BX099681;CH471060;DA240240;DA507397;DA769567;DB084539;DC369809;NG_012233;NM_001161779;NM_001161780;NM_001161781;NM_018444 AAF67480;AAH47619;AAH64978;AAH98343;BAG51859;BAG54383;BAG63890;EAW91704;EAW91705;EAW91706;NP_001155251;NP_001155252;NP_001155253;NP_060914;Q9P0J1 Hs.22265 1645376;1689939;2177324;5115113 D8S1599;SGC30292;SHGC-24323;STS-N47861 FLJ32517;FLJ56179;MGC119646;PDH;PDP;PDPC;PPM2C OTTHUMP00000226523;OTTHUMP00000226529;OTTHUMP00000226531;PDP 1;PDPC 1;[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial;protein phosphatase 2C, magnesium-dependent, catalytic subunit;pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase;pyruvate dehydrogenase phosphatase catalytic subunit 1;pyruvate dehyrogenase phosphatase catalytic subunit 1 APPROVED protein-coding ENSG00000164951 9279 16185 605993;608782 REVIEWED 1603017 PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 16 16 16 q22.1 51422733 51430152 + 65471937 65479356 + 66914383 66925004 + 2307428;6480464 17310282 15489334;12477932;11577086;10718198;9651365;12676647;20208177;8889548;17207965;20525856;20877624;20972266;21890473 57546 H3BQX2;H3BRB7;H3BSA5;H3BTU5;H3BUJ9;H3BV50;Q9P2J9 AB037769;ABBA01025422;ABBA01025423;AC044802;AK292539;AMYH01007743;BC028030;BU735208;CH471092;NM_020786 AAH28030;ADQ32797;BAA92586;BAF85228;EAW83048;NP_065837;Q9P2J9 Hs.632214 1775294;2136688;2219480;5015961;5020740;5037552 D15S1477;D8S2279;L17809;PDP2__5850;RH70777;RH78700 KIAA1348;PPM2C2 OTTHUMP00000174806;PDP 2;PDPC 2;[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial;protein phosphatase 2C, magnesium-dependent, catalytic subunit 2;pyruvate dehydrogenase phosphatase catalytic subunit 2;pyruvate dehydrogenase phosphatase isoenzyme 2;pyruvate dehydrogenase phosphatase, catalytic subunit 2 protein-coding 30263 15112 VALIDATED 1602881 PDPR pyruvate dehydrogenase phosphatase regulatory subunit 16 16 16 q22.1 55305783 55318599 + 68705030 68752685 + 70147529 70195184 + 6480464 21145461;14702039;12477932;12056414;9395502;12676647;20808825;20877624;16751776;21139048;21890473;21906983 55066 A8MT40;B3KSE1;B7ZAR9;H3BQG3;H3BRS5;H3BU60;H3BUH3;H3BV59;Q8NCN5 AB082521;ABBA01058094;ABBA01058095;ABBA01058096;AC009022;AC009060;AK000941;AK024608;AK093391;AK292502;AK302987;AK316384;AL117440;AMYH01007779;AMYH01007780;BC006246;BC032327;BC090941;BC150251;BX537614;BX538042;BX538153;CR627404;DQ580747;DQ594358;DQ600562;NM_017990 AAI50252;BAA91436;BAC02699;BAF85191;BAG52703;BAG64127;BAH14755;CAH10494;CAH10555;CAH10819;NP_060460;Q8NCN5 Hs.744043 1649765;1680387;1684922;1775244;2127986 RH64930;RH68790;RH99252;SHGC-60565;STS-AA034196 DKFZp686A088;DKFZp686D16130;FLJ10079;PDP3 pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial protein-coding ENSG00000090857 30264 17832 VALIDATED 1606573 PDPN podoplanin This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 1 1 p36.21 13782839 13817039 + 13910252 13944452 + 2292234;2292235;2292236;2292240;1302251;2292239;2292242;2292375;2292237;2292231;2292241;2292243;2292244;632934;6480464 17951198;16736189;16718353;18199599;12922978;18291512;15849211;7864138;16528371;18165897;16979138;11839536;11790662;9327748 14522983;20962267;22588067;18202409;18162779;17951199;17616532;17543889;17377811;17348451;17343736;17284957;17222411;17179989;16710414;16616332;16596424;16574316;16408168;16303743;15743802;15515019;15489334;15231832;10393083;19556810;19554509;19356249;19268462;18820665;18772332;18707544;18658274;18657337;18650031;18564921;18546264;18541721;18539139;18215137;18212541;22326634;12477932;9651190;8889548;8012384;7829101;16169070;22257901;22556408;22580922;22495364;21185581;20042851;20628624;20923309;19146981;19363443;19483399;19483629;19550098;19630798;19773378;20146302;20196862;20200437;20376776;20379614;20393745;19691459;19925582;20403045;20716773;20559122;20665731;21034514;20482880;20414092;20066519;20736762;20191305;20616339;21036919;21226415;20850695;21194851;21234520;21237498;21326813;21095001;22830405;22859271;23541579;20709739;20821344;22283975;21385358;22213642;22081310;21801875;22175904;22189341;22394497;22575513;22593499;22840788;22669451;23262786;23300922;22844530;22350732;22682130;23161183;23564785 10630 D6RH07;E7ETC6;H0Y8Q3;H0YA72;Q8NBQ8 AB127958;ABBA01017216;ABBA01017217;AF030427;AF030428;AF390106;AJ225022;AK075327;AK075345;AK307705;AK307706;AK312607;AL354712;AL357492;AL359771;AMYH01000262;AW022996;AY194238;BC014668;BC022812;BE887331;BF340649;BQ212176;BQ214601;CA312590;CD245679;CH471167;NM_001006624;NM_001006625;NM_006474;NM_198389;Z56464;Z60872 AAD01899;AAD01900;AAH14668;AAH22812;AAM73655;AAO22143;BAC11550;BAC11557;BAD04046;BAG35495;CAA12352;EAW51691;EAW51692;EAW51693;EAW51694;NP_001006625;NP_001006626;NP_006465;NP_938203;Q86YL7 Hs.468675 1674484;1695594;1767431;1777667;2106683;2134519;2151048;5020395;5037552 D8S2279;HSC1IF012;SHGC-68682;SHGC-74225;SHGC-74231;SHGC-74232;SHGC-74244;T1A-2__5376;WI-14621 AGGRUS;GP36;GP40;Gp38;HT1A-1;OTS8;PA2.26;T1A;T1A-2 OTTHUMP00000009639;OTTHUMP00000009640;OTTHUMP00000221492;OTTHUMP00000221493;OTTHUMP00000221495;OTTHUMP00000221496;OTTHUMP00000221498;OTTHUMP00000221499;PA2.26 antigen;T1-alpha;glycoprotein 36;glycoprotein, 36-KD;hT1alpha-1;hT1alpha-2;lung type I cell membrane associated glycoprotein;lung type-I cell membrane-associated glycoprotein (T1A-2);podoplanin APPROVED protein-coding ENSG00000162493 29602 16398 608863 REVIEWED 732664 PDPK1 3-phosphoinositide dependent protein kinase-1 16 16 p13.3 2527971 2593190 + 2587965 2653191 + 729514;1581775;1580863;1581774;2290458;5131489;6480464;6484113;6907045 9445477;14585963;16314505;17641274;19934406 9368760;18616680;10792047;10567711;14749367;9373175;9637919;10698680;9381178;9812896;10485710;11715018;12167717;12244303;12524439;15122200;15125833;15541657;15718470;17468049;18660489;18024423;17848913;17826953;17371830;17314099;17255356;17136479;17081983;16807684;16551362;16288304;16207722;15802620;15802604;15743829;15741170;15489334;15302935;15210700;15144186;15059930;14702039;14604990;14500673;12912918;12640464;12485998;12477932;12387817;12177059;12169624;12162751;12149249;12147684;12048203;11889038;11877406;11825911;11781095;11779851;11733037;11481331;11445557;11438723;11381116;11376011;11313365;11278835;11222751;11157489;11062054;10995762;10945988;10896934;10856237;10764742;10753910;10698939;10601311;10548550;10480933;10455013;10364160;10357815;10226025;10191262;9895304;9748166;9512493;9445476;9430688;9427642;9374542;9271440;9094314;8125298;16169070;12223477;20562859;16751776;20978239;12138205;16251192;17047224;18439422;19167335;19276999;19405949;19591923;20044479;20133737;20186503;9768361;21832049;22454520;21035469;19602588;21310824;22658458;22863784;22952425;23530144;21568903;15209375;17327236;21900206;21930711;12374740;16737971;18003900;18184863;18204440;18495460;19146951;19910471;19920149;20197379;20361045;20385558;20643654;21034549;21118801;21419810;21775285;22318606;21139048;21890473;23453624;21875479;17916563;21533613;21908616;22119465;22347420;22490666;19010391;23098536;23131847;21697490;22398726 5170 C9JWR9;E9PER6;H3BNV5;H3BPR5;H3BPW1;H3BQ10;H3BQA3;O15530;Q6A1A2 AB209835;ABBA01030247;ABBA01030248;AC005591;AC093525;AC141586;AF017995;AF111845;AJ406809;AJ785968;AK095507;AK131060;AK222581;AK293900;AL157446;AMYH01007063;AMYH01007064;AMYH01007065;AMYH01007066;BC000789;BC006339;BC012103;BC012540;BC033494;BC040324;BI830733;CH471112;CR536517;NM_001261816;NM_002613;NM_031268;Y15056 AAC33797;AAC51825;AAF16685;AAH06339;AAH12103;AAH33494;ABM83223;ABM86422;ACE87795;ACT64575;BAD93072;BAD96301;BAG57287;CAA75341;CAC10873;CAG38755;CAH05056;EAW85495;NP_001248745;NP_002604;NP_112558;O15530;Q6A1A2 Hs.459691 1654962;1700738;1730119;1740955;1756839;1770170;2110641;2152223;2157110 D16S426E;GDB:176413;PDPK1_7852;RH103994;RH47915;RH69648;RH78462;SHGC-143995;SHGC-61166 MGC20087;MGC35290;PDK1;PDPK2;PRO0461 3-phosphoinositide-dependent protein kinase 1;OTTHUMP00000159109;OTTHUMP00000159110;OTTHUMP00000174525;PkB kinase like gene 1;PkB-like 1;hPDK1;protein kinase protein-coding ENSG00000140992 8816 05556 605213 VALIDATED 6480380 PDX1-AS1 PDX1 antisense RNA 1 q12.2 100861550 AL353195;AL390738;BX383058 Hs.738490 APPROVED miscrna 43698 1349373 PDRG1 p53 and DNA-damage regulated 1 20 20 20 q11.21 27289114 27296239 - 29996419 30003544 - 30532758 30539883 - 6480464 15489334;14743216;14562055;12477932;11780052;8889548;17643375;19450687;22939629;21193842;14676191;21139048;21906983;22053931 81572 Q9NUG6 ABBA01019287;AK312021;AL031658;AMYH01011831;AY286301;BC001856;BC009334;BM679702;CH471077;NM_030815 AAH01856;AAH09334;AAP45329;BAG34958;EAW76399;EAW76400;NP_110442;Q9NUG6 Hs.435755 2154128;2186772 WI-13573;Z94502 C20orf126;PDRG OTTHUMP00000030569;p53 and DNA damage regulated 1;p53 and DNA damage-regulated protein 1 protein-coding ENSG00000088356 16119 17833 610789 VALIDATED 1604045 PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 4 4 p14 39500878 39655971 - 39824483 39979576 - 6480464 21697133;15855230;17846787;17353931;15837422;15019998;14702039;12477932;11590136;11076961;9734811;19906707;16682347;20359100;17113138;19907496;21069257;16159877;19454010;17112726;22939629;18029348;21252943;17349791;20360068;21900206;21903422;21139048;21890473;21906983;22145905;21865657;22586326;21111234;22751105;23000965;23314748;22505724;22751501;23022380 23244 G1UI16;H0Y9L6;H0Y9L9;H0Y9X6;Q29RF7 AB014548;AB621803;ABBA01004144;ABBA01004145;ABBA01004146;ABBA01004147;ABBA01004148;ABBA01004149;ABBA01004150;AC098591;AC105287;AC113150;AF294791;AK001828;AK021757;AK023592;AK098331;AK124569;AMYH01014122;AY550968;BC009650;BC041361;BC114218;BC126225;BC144088;CA412233;CH471069;CR749425;NG_021172;NM_001100399;NM_001100400 AAH09650;AAH41361;AAI14219;AAI26226;AAM82347;AAT52214;ACE86943;ACE86955;ACE87631;ACE87646;ADR82739;BAA31623;BAC05286;BAG51044;BAK64139;CAH18263;EAW92952;EAW92953;EAW92954;EAW92955;NP_001093869;NP_001093870;Q29RF7 Hs.331431 1652495;1658137;1672939;1711466;1788744;1855997;1856092;2109807;2120392;2140374;2175458;2185799;5037552 D4S251;D8S2279;G49189;RH128590;RH71247;SCC-_112_9325;SHGC-37404;SHGC-50461;SHGC-59611;STS-H01326;STS-R02821;STS-T91868;WI-15044 DKFZp686B19246;FLJ41012;KIAA0648;MGC131948;MGC161503;PIG54;SCC-112;SCC112 OTTHUMP00000218540;OTTHUMP00000218541;cell proliferation-inducing gene 54 protein;scc-112 protein;sister chromatid cohesion protein 112;sister chromatid cohesion protein PDS5 homolog A APPROVED protein-coding ENSG00000121892 29088 11537 613200 REVIEWED 1354063 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008] 10 10 p12.1 27026601 27075733 + 26986595 27035727 + 6480464;6907045 15489334;8226825;16262699;18636124;17332895;15164054;12477932;10972372;8125298;8119922;7752843;20877624;20010493;20010505;20051244;20201926;20379614;21890473 23590 H0YEE6;Q5T2R2 AB209763;AB210838;ABBA01034412;ABBA01034413;AF118395;AK024802;AK223414;AK296288;AL390961;AMYH01002201;BC049211;BC063635;CH471072;NG_008972;NM_014317 AAD28559;AAH49211;AAH63635;BAD93000;BAD97134;BAE48216;BAG58993;EAW86084;EAW86085;NP_055132;Q5T2R2 Hs.558468 1645274;1787588;2135892;5022327 D11S1134;RH41873;SHGC-155915;SHGC-58149 COQ1;COQ10D2;DPS;MGC70953;RP13-16H11.3;SPS;TPRT;TPT;TPT 1;hDPS1 OTTHUMP00000019346;all-trans-decaprenyl-diphosphate synthase subunit 1;coenzyme Q1 homolog;decaprenyl pyrophosphate synthase subunit 1;decaprenyl-diphosphate synthase subunit 1;polyprenyl pyrophosphate synthetase;subunit 1 of decaprenyl diphosphate synthase;trans-prenyltransferase;trans-prenyltransferase (TPT);trans-prenyltransferase 1 APPROVED protein-coding ENSG00000148459 17759 09591 607429;614651 REVIEWED 736367 PDX1 pancreatic and duodenal homeobox 1 The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008] 13 13 q12.1 27392157 27397394 + 28494168 28500451 + 1580863;2311214;2311215;2311219;2311232;2311204;2311213;2311218;2311205;2308899;2311233;2311308;2311305;2311307;2311309;2308812;2311206;2311207;2311217;2311226;2311227;1357906;2311170;1600277;2311220;2311221;2311222;2311225;2311224;2311168;2311228;2311229;2311173;2311231;2311306;2311311;1625044;2311230;2311223;2311310;6480464;6484113;6907045;7240710 18464933;17893880;17764693;12210084;19245309;16337165;18374094;17761790;17131142;11090239;15170499;19371350;10545531;18506375;18682608;16983179;10512364;9637677;15561947;17690043;14988244;17991758;12438314;12606515;9075799;18288891;17235568;17460716;18253862;17200876;17192469;17641871;17003479;15734849;17226789;15979049;17673521;16046294;17383157 8954967;17941991;8988180;19277121;19228875;19208834;19077462;19056482;18951430;18855980;18811724;18754323;18754095;18718916;18671802;18665085;18593849;18522939;18508668;18477649;18361919;18060872;17957487;17761145;17705277;17592437;17583748;17327436;17143557;17126328;17003361;16936193;16894468;16874866;16873704;16741735;16675598;16407209;16405074;16390394;16229747;16141209;16092045;15993959;15839736;15754742;15665000;15664999;15300214;15277425;15121856;15107297;15047618;15028719;14764823;14631368;12972592;12970316;12947327;12783165;12477932;12124776;12052878;11834421;11772903;11279116;11270685;11076863;11022198;10751390;10636926;10545530;9252422;9115263;9111329;8986763;8923459;8635654;7590740;7505393;14968112;19056911;19515026;19578796;19755420;19833727;19843526;19910415;20009086;20036830;20353756;20416077;20621032;20381624;15896300;16166097;20467340;20622005;20811152;19913121;20628086;20682687;21228366;20668890;21278380;21108535;20962579;21393239;22594685;22570331;21739268;21612404;20467438;21909647;21652712;21986529;22581228;20301620;22322596;22640736;18218622;22761608;22905092 3651 P52945 ABBA01035737;AF035260;AF049893;AL353195;AMYH01004992;CA771381;CA848737;CH471075;NG_008183;NM_000209;S82178;U30329;U35632;X99894 AAA74012;AAA88820;AAB47101;AAB88463;AAC05157;AAI11593;CAA68169;EAX08420;NP_000200;P52945 Hs.32938 1648750;2135138 G05158;RH79140 GSF;IDX-1;IPF1;IUF1;MODY4;PDX-1;STF-1 IPF-1;IUF-1;OTTHUMP00000018174;glucose-sensitive factor;insulin promoter factor 1, homeodomain transcription factor;insulin upstream factor 1;islet/duodenum homeobox-1;pancreas/duodenum homeobox protein 1;pancreatic and duodenal homeobox gene 1;pancreatic-duodenal homeobox factor 1;somatostatin transcription factor 1;somatostatin-transactivating factor 1 2289644;2289645;2314787 BW509_H;BW511_H;GLUCO113_H APPROVED protein-coding ENSG00000139515 6107 02843 245349;600733 REVIEWED 1353926 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009] 6 6 6 q21 108222204 108529221 - 107580456 107887448 - 107473761 107780779 - 6480464;6907045 21832049;16262699;19209031;18978678;17855635;15489334;14574404;12477932;8125298;19913121;20628086;20877624;20051244;20507940;23312889;18029348;19322201;23382691 57107 B4DKU5;Q5JRD6;Q86YH6 AB210839;ABBA01026171;ABBA01026172;ABBA01026173;ABBA01026174;ABBA01026175;ABBA01026176;ABBA01026177;ABBA01026178;ABBA01026179;AF086233;AF254956;AJ420575;AK225629;AK296717;AK301480;AK315804;AL121957;AL355586;AL590489;AL591516;AL832290;AMYH01016570;AMYH01016571;BC029491;BC039906;CH471051;DC341808;NG_013033;NM_020381 AAF97788;AAH29491;AAH39906;BAE48217;BAG38145;BAG59307;BAG62995;EAW48400;NP_065114;Q86YH6 Hs.745008 1337015;1703860;1704434;1714907;1758801;1855487;2119517;2128741;2143103;2169964;2170951;2174899;5037552;7186481 D12S831;D6S268;D8S2279;RH120448;RH18501;RH46600;RH68598;SHGC-151042;SHGC-79152;SHGC-82919;STS-AA034318;WI-18045;WI-22040 C6orf210;COQ10D3;DLP1;bA59I9.3;hDLP1 OTTHUMP00000065664;all-trans-decaprenyl-diphosphate synthase subunit 2;decaprenyl pyrophosphate synthase subunit 2;decaprenyl pyrophosphate synthetase subunit 2;decaprenyl-diphosphate synthase subunit 2;subunit 2 of decaprenyl diphosphate synthase APPROVED protein-coding ENSG00000164494 23041 12879 610564;614652 REVIEWED 1321969 PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) This gene encodes a protein that interacts with the conserved protein complex termed cohesion. The cohesion complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, May 2010] 13 13 q12.3 32058624 32250157 + 33160564 33352158 + 6480464 10215036;15855230;10963680;16682347;19412548;18499069;16710414;15837422;15489334;15345747;15302935;12477932;12072405;10231032;8812419;11111111;19454010;21116278;16344560;17113138;19737411;20383194;17112726;22293751;21832049;22939629;18029348;17349791;19596686;20360068;21139048;21890473;21906983;22145905;22586326;21111234;23000965;22751501 23047 A9IYQ1;Q9NTI5 AB023196;ABBA01010148;ABBA01010149;ABBA01010150;AK026889;AK128502;AK299340;AL137201;AL138820;AMYH01005021;AMYH01005022;AMYH01005023;BC026240;BC039256;BC070274;BP398054;CH471075;DA856411;DB456240;NG_021308;NM_015032;U50533;U95825;Z75889;Z84467;Z84572 AAD22134;AAH39256;AAH70274;AAI72246;ADZ15436;BAA76823;BAB15584;BAH13007;CAB69911;CAI10806;EAX08520;NP_055847;Q9NTI5 Hs.744901 1341263;1657424;1675475;2113340;2113344;2113406;2113498;2114828;2119155;2168239;2179008;5020274 AFM255ze9;CC509562;D13S171;D13S1731;D13S1733;D13S1767;L18441;RH44714;RH48243;RH66160;RH69699;WI-18387 APRIN;AS3;CG008;FLJ23236;KIAA0979;RP1-267P19.1 OTTHUMP00000018232;OTTHUMP00000197491;androgen induced inhibitor of proliferation;androgen-induced proliferation inhibitor;androgen-induced prostate proliferative shutoff-associated protein AS3;androgen-induced shutoff 3;sister chromatid cohesion protein PDS5 homolog B APPROVED protein-coding ENSG00000083642 20418 05624 605333 REVIEWED 1605550 PDXDC2P pyridoxal-dependent decarboxylase domain containing 2, pseudogene 16 16 16 q22.1 54525491 54615073 - 68567701 68657352 - 70010200 70099851 - 6480464 12477932;21906983 283970 Q6P474 ABBA01000839;ABBA01000840;ABBA01000841;ABBA01000842;ABBA01000843;AC009022;AC026468;AK292860;AL833251;AMYH01007775;AMYH01007776;AMYH01007777;AMYH01007778;BC063633;NR_003610 BAF85549;Q6P474 Hs.513695 1677518;1746309;1848330;2117049;2161899;2180868;5124491 Cda0uf06;D16S3348;G17898;G64584;RH91383;SHGC-60186;SHGC-60187 FLJ23482;PDXDC2 APPROVED pseudo ENSG00000196696 27559 PROVISIONAL 1604634 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 16 16 16 p13.11 54559959 54615133 - 14976487 15039690 + 15068833 15131552 + 6480464 17353931;16344560;14702039;12477932;11591653;9039502;20189936;22863883;22939629;21987572;21139048;21906983;21829377;21886157;22359512;17266347;21963094;22504420;23383273 23042 E7EMH5;E7EPL4;H3BM88;H3BND4;H3BNL6;H3BNZ1;H3BPV5;H3BQ54;H3BQS3;H3BU11;J3KNK7;Q6P996;Q6XYB5;Q86XE2 ABBA01012611;AC138932;AK025504;AK090552;AK295168;AK299111;AK299799;AMYH01007182;AY203955;BC025366;BC033748;BC036520;BC042104;BC045554;BC053946;BC060871;BX647809;BX648066;CH471301;D87438;DB019664;DQ111782;H18469;NM_015027 AAH25366;AAH33748;AAH36520;AAH42104;AAH45554;AAH60871;AAP34478;AAZ14099;BAA19780;BAG58179;BAG61167;BAG61675;EAW54748;NP_055842;Q6P996 Hs.370781 1646631;1646633;1675100;1677518;1715075;1722221;1736614;1746309;1848330;2117049;2134984;2146477;2161899;2165560;2176789;2180868;5022200;5022588;5037742 A001Y19;D16S2604E;D16S3348;D1S3692;D5S1597E;G17898;G19780;G60015;G64584;L18426;RH119489;RH91383;SHGC-31845;SHGC-32783;SHGC-60186;SHGC-60187;SHGC-60684;SHGC-61155;WIAF-1614 KIAA0251;LP8165 OTTHUMP00000232564;pyridoxal-dependent decarboxylase domain-containing protein 1 protein-coding ENSG00000179889 28995 13789 614244 VALIDATED 1351799 PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008] 22 22 22 q12.3 21856602 21864785 + 36384683 36392885 + 38054737 38062939 + 737633;6480464;6907045 12477932 18029348;19000834;18510874;15580268;15489334;14702039;14522954;10591208;8132548;16336786;22939629;17500066;21139048;23223568 57026 B1AHD3;Q96GD0 ABBA01055480;AK057265;AMYH01012755;AY125047;BC000320;BC009756;BC012832;BC018844;BC064922;CH471095;NM_020315;Z83844 AAH00320;AAH09756;AAH64922;AAM94358;EAW60176;EAW60177;NP_064711;Q96GD0 Hs.632762 1681839;1773135 RH67;WI-19614 CIN;FLJ32703;PLP;dJ37E16.5 OTTHUMP00000042130;PLP phosphatase;chronophin;pyridoxal phosphate phosphatase APPROVED protein-coding ENSG00000241360 30259 609246 VALIDATED 1320465 PDZD7 PDZ domain containing 7 This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 10 10 10 q24.31 96514823 96528615 - 102767079 102780869 - 102767440 102790914 - 737633;1580863;6480464;7240710 12477932 19028668;15489334;15164054;14702039;8125298;16344560;20440071;23055499;20301515 79955 H0Y7G1;Q9H5P4 ABBA01063209;AK024422;AK026862;AK225136;AL133215;AMYH01003003;BC029054;CH471066;DA197280;FJ617449;NG_028030;NM_001195263;NM_024895 AAH29054;ACU45386;BAB15577;BAB15712;EAW49788;NP_001182192;NP_079171;Q9H5P4 Hs.438245 5015619;5037552 D11S3114;D8S2279 PDZK7 OTTHUMP00000020294;PDZ domain-containing protein 7 APPROVED protein-coding ENSG00000186862 26257 15114 276901;605472;612971 REVIEWED 1343954 PDYN prodynorphin The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 20 20 p13 1907402 1922702 - 1959402 1974931 - 1580863;6480464;7240710 22542470;9047294;19486061;19298317;19219857;19183129;19094085;19086053;19066720;18923396;18355961;18334734;18184800;17559549;16924269;16914231;16529859;16314761;16274263;16184603;15894804;15489334;15301734;14552886;12644935;12590613;12477932;12207142;11992566;11835385;11803449;11780052;10871647;10646497;7759618;6316163;6281660;2893547;1978246;20731629;20808262;21521424;16344560;15306549;21035104;20734064;16892066;18240029;19437412;19468819;19474285;19820697;19874574;19948975;20376782;7905839;8208289;21223598;23392455;21832049;21382455;21712028;21736916;21338584;22730276;23152558;22764240;22243190;22443215;22468884;22768096 5173 P01213;Q2YEM6 ABBA01053785;AK289618;AK316076;AL034562;AMYH01011666;AY902648;AY902649;AY902650;AY902651;AY902664;AY902665;AY902666;AY902667;BC026334;CH471133;DA157767;DA167762;DA178888;DA297229;DA302375;DA305883;NG_028027;NM_001190892;NM_001190898;NM_001190899;NM_001190900;NM_024411;X00176;X02536 AAH26334;AAY53973;AAY53974;AAY53975;AAY53976;AAY53989;AAY53990;AAY53991;AAY53992;ADZ15893;BAF82307;BAH14447;CAA24999;EAX10604;NP_001177821;NP_001177827;NP_001177828;NP_001177829;NP_077722;P01213 Hs.22584 1665807;1777486;2118565;2132813;2163564;2217726 CHLC.GAAT4E12;D20S1072;G10505;PDYN_1717;SHGC-30305;STS-K02268 ADCA;MGC26418;PENKB;SCA23 OTTHUMP00000030002;beta-neoendorphin;beta-neoendorphin-dynorphin;dynorphin;leu-enkephalin;leumorphin;neoendorphin-dynorphin-enkephalin prepropeptide;preprodynorphin;preproenkephalin B;proenkephalin-B;rimorphin APPROVED protein-coding ENSG00000101327 8820 08838 131340;610245 REVIEWED 735643 PDZD2 PDZ domain containing 2 Proteins containing PDZ domains have been shown frequently to bind the C-termini of transmembrane receptors or ion channels. They have also been shown to bind to other PDZ domain proteins and could possibly be involved in intracellular signalling. The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Jul 2008] 5 5 p13.3 31834788 32146795 + 31799031 32111038 + 1580863;6480464 21451436;11289102;18639375;18037333;16413998;14702039;12477932;12671685;12370826;10896674;9205841;8889548;12421765;1731767;21061259;19046020;20237496;20379614;22145905;21150319;23184150;23251661 23037 D6RF66;O15018 AB002298;ABBA01066722;ABBA01066723;ABBA01066724;ABBA01066725;ABBA01066726;ABBA01066727;ABBA01066728;AC010449;AC010469;AC022447;AC025178;AC025458;AF338650;AK021922;AK091490;AK128686;AK294741;AK304804;AMYH01014993;AMYH01014994;BC032023;BC057283;BX648242;CA503068;CH471118;NM_178140 AAI72231;AAK07661;BAA20760;BAC87571;BAG57884;BAG65554;EAX10775;EAX10778;NP_835260;O15018 Hs.481819 1341804;1342253;1766383;1770196;1772708;1774648;1775993;1851115;2117060;2125753;2134302;2149496;2153386;2185865;5015619;5016781;5017028;5022576;5022578;5037552;7187518 A004I48;D11S3114;D1S1361;D1S1423;D5S1884;D5S477;D6S1584;D6S2768;D8S2279;G35319;RH16274;RH18387;RH44721;RH46366;RH65126;SGC33738;SGC34914;SHGC-149728;SHGC-67307;STS-W61113 AIPC;KIAA0300;PAPIN;PDZK3;PIN1 OTTHUMP00000220935;PDZ domain containing 3;PDZ domain-containing protein 2;PDZ domain-containing protein 3;activated in prostate cancer protein;papin;plakophilin-related armadillo repeat protein-interacting PDZ protein-like APPROVED protein-coding ENSG00000133401 18486 10142 610697 REVIEWED 1350594 PDZD11 PDZ domain containing 11 X X X q13.1 69859545 69863133 - 69422936 69426523 - 69506211 69509798 - 6480464 16381901;16344560;16051599;15772651;15489336;15489334;12975309;12763866;12477932;11230166;11076863;11042152;22990118;21183659;21139048;17979178;21988832 51248 Q5EBL8 ABBA01067554;AC002416;AF003528;AF151061;AK024746;AK311539;AL139111;AL158141;AL357752;AL450449;AMYH01022526;AY358829;BC012996;BC089433;BG708698;BX537725;CH471132;CR457149;DA115661;NG_016799;NM_016484 AAF36147;AAH12996;AAH89433;AAQ89188;CAD97820;CAG33430;CAL38086;EAX05345;EAX05346;NP_057568;Q5EBL8 Hs.11042 2177886;5107711 DXS9744;RH78784 AIPP1;PDZK11;PISP ATPase-interacting PDZ protein;OTTHUMP00000023469;OTTHUMP00000023470;PDZ domain-containing protein 11;PMCA-interacting single-PDZ protein;plasma membrane calcium ATPase-interacting single-PDZ protein protein-coding 28034 06622 300632 VALIDATED 1352351 PDXK pyridoxal (pyridoxine, vitamin B6) kinase The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 21 21 q22.3 43963406 44006616 + 45138978 45182188 + 724656;1580863;2303021;6480464;6907045 9099727;3225873 21145461;10930737;16780588;19351586;19086053;16704963;16344560;16021519;15489334;15154080;15082224;14702039;12477932;10830953;9354586;8510562;8125298;6088736;2009;16600635;17766369;9252787;10987144;20035503;20373357;20639122;10024608;22990118;18029348;15161933;21697133;17623298;18781797;21139048;21890473;21906983;19322201;21628590;22647618 8566 A8MT14;A8MV33;F2Z2Y4;O00764 AB621819;ABBA01074133;ABBA01074134;ABBA01074135;ABBA01074136;ABBA01074137;AI131245;AI652877;AK024977;AK027018;AK056502;AK094630;AK225206;AL109793;AL110184;AL122067;AL137632;AL161960;AL355712;AL355713;AMYH01012279;AMYH01012280;AMYH01012281;AMYH01012282;AP001052;AP001053;AP001752;AW245602;AW245860;AY303972;BC000123;BC003651;BC005825;BC008008;BC021550;BC041020;BC063541;BE671761;BI871733;BQ653540;BU192292;CB989301;CH471079;CX867421;DA116202;DA398180;DA736443;DA772127;DB010203;HH961854;NM_003681;U89606 AAC51233;AAH00123;AAH05825;AAH08008;AAH21550;AAH41020;AAP73047;BAA95540;BAB15048;BAK64155;CBX51400;EAX09475;NP_003672;O00764 Hs.284491 1646307;1653252;1653847;1713217;1713693;1722275;1750323;1766439;1790607;1848065;1848916;2109637;2116331;2119726;2148945;2151021;2155443;2160455;2175935;5014019;5023384 D21S1859;D21S1868;D21S1981;D5S2354;G34624;G60049;PDXK_8833;RH120396;RH120729;RH35999;RH36279;RH66292;SHGC-112512;SHGC-149770;SHGC-51899;SHGC-52026;SHGC-87677;SHGC-87681;STS_CEB242;T03311;WIAF-2214 C21orf124;C21orf97;DKFZp566A071;FLJ31940;FLJ37311;MGC15873;MGC31754;MGC52346;PKH;PNK;PRED79 OTTHUMP00000109453;OTTHUMP00000109454;OTTHUMP00000109455;OTTHUMP00000109456;pyridoxal kinase;pyridoxamine kinase;pyridoxine kinase;vitamin B6 kinase APPROVED protein-coding ENSG00000160209 8819 01526 179020 REVIEWED 1626137 PDZK1P1 PDZ domain containing 1 pseudogene 1 1 1 1 q21.1 120876537 120879319 + 144635745 144653976 - 145924388 145942619 - 14702039 728939 A8MUH7 AK126719;AL356004;AMYH01001373;NR_003377 A8MUH7 Hs.696575 1689322;5106681 RH47962;WI-11369 pseudo ENSG00000215860 31974 PROVISIONAL 1625088 PDZK1P2 PDZ domain containing 1 pseudogene 2 1 1 q21.2 145933157 145948448 - 147466233 147481826 - 100034743 A8MUH7 ABBA01004431;AC239801;AC239803;AMYH01001373;BX537254;NG_005958 A8MUH7 2177393 RH35978 pseudo 31975 INFERRED 1348280 PDZK5C PDZ domain containing 5C 414180 23454 1343770 PDZD4 PDZ domain containing 4 X X X q28 153301304 153329683 - 152720817 152749197 - 153067623 153096003 - 6480464 15138636;15489334;14702039;12477932;10819331;8661155;15077175;16713569;21832049 57595 B7ZKY3;D3DWW0;Q76G19 AB040877;AB103478;ABBA01045352;ABBA01045353;ABBA01045354;ABBA01045355;ABBA01045356;AF085862;AK091444;AK123229;AK123822;AK127016;AK309212;AMYH01023301;BC002606;BC008599;BC020347;BC080584;BC117277;BC143459;BC143542;BC143545;CH471172;NM_032512;U52111 AAH02606;AAH80584;AAI17278;AAI43460;AAI43546;ADR83394;BAA95968;BAC03666;BAD16631;BAG53881;BAG53965;BAG54423;EAW72791;EAW72795;EAW72805;NP_115901;Q76G19 Hs.92732 FLJ34125;KIAA1444;LU1;PDZK4;PDZRN4L OTTHUMP00000025950;PDZ domain-containing RING finger protein 4-like protein;PDZ domain-containing protein 4 protein-coding ENSG00000067840 21167 06601 300634 PROVISIONAL 6481302 PDZRN3-AS1 PDZRN3 antisense RNA 1 100874099 AC117489 APPROVED miscrna 40814 1348843 PDZD3 PDZ domain containing 3 Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008] 11 11 11 q23.3 116215961 116220727 + 118561405 118566130 + 119056166 119060932 + 6480464 11950846;19088451;15489334;14702039;12615054;12477932;15523054;1553237;15553237;16344560;22884631 79849 B0YJ61;E9PPZ1;E9PRB0;Q86UT5 AB094096;ABBA01039677;AK026409;AK091966;AK298333;AK315403;AMYH01004080;AP002956;AY047359;BC029042;BX648391;CH471065;DA381610;EF445006;NM_001168468;NM_024791;NR_033122 AAH29042;AAL10686;ACA06039;BAB15474;BAC03780;BAC76050;BAG60582;EAW67470;EAW67471;EAW67472;EAW67473;EAW67474;NP_001161940;NP_079067;Q86UT5 Hs.374726 1688825;1779048;2160089 RH48721;RH94032;WI-16056 FLJ22756;IKEPP;NHERF4;PDZK2 NHERF-4;Na(+)/H(+) exchange regulatory cofactor NHE-RF4;OTTHUMP00000232205;OTTHUMP00000232206;OTTHUMP00000232208;OTTHUMP00000232209;PDZ domain containing 2;PDZ domain-containing protein 2;PDZ domain-containing protein 3;intestinal and kidney enriched PDZ protein;intestinal and kidney-enriched PDZ protein;na/Pi cotransporter C-terminal-associated protein 2;naPi-Cap2;natrium-phosphate cotransporter IIa C-terminal-associated protein 2;sodium-hydrogen exchanger regulatory factor 4 APPROVED protein-coding ENSG00000172367 19891 06191 607146 VALIDATED 1318503 PDZD8 PDZ domain containing 8 10 10 10 q26.12 112772703 112865000 - 119032596 119124927 - 119042606 119134937 - 737633;1580863;6480464 12477932 21549406;22683750;17081983;15489334;15164054;14702039;12601173;20573829;16385451;22990118;21890473;21906983;19322201 118987 Q8NEN9 ABBA01062941;ABBA01062942;ABBA01062943;ABBA01062944;ABBA01062945;ABBA01062946;AK058141;AK091746;AL122051;AL359836;AL391988;AMYH01003101;AY211924;AY211929;BC012186;BC028375;BC033019;CH471066;NM_173791 AAH28375;AAO65177;AAO65182;ADZ16047;CAB59184;EAW49427;NP_776152;Q8NEN9 Hs.501149 1336760;1646013;1653174;1657909;5093738;7186825 A009V43;D10S221;G32894;STS-H92741;WI-13732 FLJ25412;FLJ34427;PDZK8;bA129M16.2 OTTHUMP00000020577;PDZ domain-containing protein 8;sarcoma antigen NY-SAR-104;sarcoma antigen NY-SAR-84;sarcoma antigen NY-SAR-84/NY-SAR-104 protein-coding 26974 11423 614235 PROVISIONAL 1642918 PEAR1 platelet endothelial aggregation receptor 1 PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008] 1 1 1 q23.1 129934753 129957456 + 155130147 155152850 + 156863523 156886226 + 6480464 20526338;19429868;18511696;15851471;21791418 375033 A6PVP2;F2Z2F7;Q5VY43 ABBA01016641;AK074121;AK098809;AL158169;AL356104;AMYH01001441;NM_001080471 AAI72296;BAB84947;BAC05419;NP_001073940;Q5VY43 Hs.142003 2131405 SHGC-57514 FLJ00193;JEDI;MEGF12 OTTHUMP00000038718;hPEAR1;multiple EGF-like domains protein 12;multiple EGF-like-domains 12;multiple epidermal growth factor-like domains protein 12;platelet endothelial aggregation receptor 1 APPROVED protein-coding ENSG00000187800 33631 610278 PROVISIONAL 1313169 PDZRN3 PDZ domain containing ring finger 3 3 3 3 p13 73365735 73608750 - 73514342 73756762 - 73431652 73674072 - 737633;1580863;6480464 12477932 17118964;22889411;15489334;15458844;15305371;15188402;15010864;14702039;10470851;10431247;21546767;17576800;20306291;20379614;20668165;23166209;22609016 23024 B7ZAG0;C9JWE6;E7ENB6;F5H8I9;H7C566;Q9UPQ7 AB029018;ABBA01030967;ABBA01030968;ABBA01030969;AC024102;AC103560;AC117489;AC119731;AK074573;AK294761;AK299275;AK299560;AK307818;AK316244;AK316275;AL049958;AL157498;AMYH01013282;AMYH01013283;AMYH01013284;BC014432;BC150623;BC152417;CH471055;NM_015009 AAH14432;AAI50624;AAI52418;BAA83047;BAC11068;BAH11874;BAH12989;BAH13065;BAH14615;BAH14646;CAB75679;EAW65531;EAW65532;NP_055824;Q9UPQ7 Hs.743998 1666314;1693646;1700638;1713537;1724571;1756561;1848534;2124246;2125439;2128285;2168430 A002G41;RH103942;RH120254;RH12030;RH122545;SHGC-143591;SHGC-17226;SHGC-58565;SHGC-77092;SHGC-77094;SHGC-77111 LNX3;SEMACAP3 E3 ubiquitin-protein ligase PDZRN3;OTTHUMP00000213613;OTTHUMP00000213615;OTTHUMP00000213616;OTTHUMP00000213617;OTTHUMP00000213618;PDZ domain-containing RING finger protein 3;ligand of Numb protein X 3;likely ortholog of mouse semaF cytoplasmic domain associated protein 3;semaphorin cytoplasmic domain-associated protein 3 protein-coding ENSG00000121440 17704 15115 609729 PROVISIONAL 1348466 PEBP1P1 phosphatidylethanolamine binding protein 1 pseudogene 1 14 14 14 q32.2 76945009 76946378 - 95958935 95960477 - 96889265 96890634 - 326614 ABBA01048594;AL359240;AMYH01005977;NG_002604 1744331 GDB:451706 PBPP1 APPROVED pseudo 20054 INFERRED 6893068 PEBP1P2 phosphatidylethanolamine binding protein 1 pseudogene 2 2 p11.2 85568404 85568961 - 647307 ABBA01075746;AC093162;AMYH01010494;NG_021511 1769813;2116345 NIB1368;STS-AA004881 pseudo 44344 INFERRED 6892980 PEBP1P3 phosphatidylethanolamine binding protein 1 pseudogene 3 1 q31.3 198647467 198649268 - 100129570 ABBA01027578;AL157402;AMYH01001627;NG_007730;NG_027979 1744331;1791604;1847803 AL010096;GDB:451706;PMC116441P1 pseudo 44345 INFERRED 1604496 PDZD9 PDZ domain containing 9 16 16 16 p12.2 20774097 20791339 - 21902987 21919929 - 21995186 22012431 - 15616553;15489334;12477932;21832049 255762 E5RJ18;F5GWW8;Q8IXQ8 ABBA01003851;AC092119;AMYH01007355;BC021724;BC028605;BC039562;BX100380;CH471249;DB450393;NM_173806;NR_033694 AAH21724;AAH28605;AAH39562;EAW50593;NP_776167;Q8IXQ8 Hs.98244 1688556;1772900;2156498 G34244;RH92160;SHGC-60745 C16orf65;MGC50721 OTTHUMP00000228324;OTTHUMP00000228325;PDZ domain-containing protein 9;PDZ domain-containing protein C16orf65 APPROVED protein-coding ENSG00000155714 28740 14667 VALIDATED 737282 PDZK1IP1 PDZK1 interacting protein 1 1 1 p33 47421848 47428358 - 47649261 47655771 - 6480464 18303113;17675338;17548903;17426052;17230460;16710414;15489334;14531806;12837682;12754212;12477932;11997341;9815914;9461128;8701988;16169070;19913121;20628086;17207965;19601982;22266858 10158 Q13113 ABBA01050828;ABBA01050829;AL135960;AMYH01000593;BC012303;BI763294;BM924665;CH471059;CR450304;NM_005764 AAH12303;ADQ32646;CAB72104;CAG29300;EAX06878;NP_005755;Q13113 Hs.431099 1767997;2168504 SHGC-35625;SHGC-74774 DD96;MAP17;RP1-18D14.5;SPAP 17 kDa membrane-associated protein;OTTHUMP00000009572;OTTHUMP00000009573;PDZK1-interacting protein 1;epithelial protein up-regulated in carcinoma, membrane associated protein 17;membrane-associated protein 17 protein-coding ENSG00000162366 16887 06211 607178 VALIDATED 732823 PDZK1 PDZ domain containing 1 This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 1 1 q21 144439083 144475430 + 145727666 145764207 + 6480464 16236806;16738539;15304510;9461128;19321583;19091402;18955051;18403724;17990980;17602283;17507652;16710414;16381901;16192282;16189514;16012170;15994332;15766278;15523054;15494376;15489336;15489334;15215163;14702039;14551195;14531806;12837682;12754212;12063253;12615054;12477932;12471024;12424224;12119305;11099500;11076863;11051556;10829064;10496535;9924606;20237154;19913121;20628086;15553237;18029348;19173579;19447883;19503597;19535329;19861489;19890391;20162742;20162743;20855565;20884846;15767854;19421056;20632170;21059598;20949066;21183661;22696060;21832049;21653824;22528496;23263486 5174 Q5T2W1 ABBA01005738;AC242845;AF012281;AK298269;AK313100;AL390725;AMYH01001154;AMYH01001155;BC006496;BC006518;BX477678;CH471244;NM_001201325;NM_001201326;NM_002614 AAC12264;AAH06496;AAH06518;BAG35924;BAG60531;CAI13715;CAI13716;CAL38402;EAW71441;EAW71442;EAW71443;NP_001188254;NP_001188255;NP_002605;Q5T2W1 Hs.444751;Hs.732345 1679031;2177393;5106681 RH35978;RH79649;WI-11369 CAP70;CLAMP;NHERF-3;NHERF3;PDZD1 C-terminal linking and modulating protein;CFTR-associated protein of 70 kDa;NHERF-3;Na(+)/H(+) exchange regulatory cofactor NHE-RF3;Na(+)/H(+) exchanger regulatory factor 3;OTTHUMP00000015572;PDZ domain-containing protein 1;PDZ-containing kidney protein 1;na/Pi cotransporter C-terminal-associated protein 1;naPi-Cap1;sodium-hydrogen exchanger regulatory factor 3 APPROVED protein-coding ENSG00000174827 8821 04829 603831 REVIEWED 1352387 PEE1 preeclampsia/eclampsia 1 7240710 9150163 5177 8825 189800 1318876 PDZRN4 PDZ domain containing ring finger 4 12 12 12 q12 40385466 40771197 + 40117808 40254659 + 41582250 41968392 + 6480464 19010793;18464913;16541075;15489334;15010864;14702039;12477932;11230166;22889411;20944657 29951 B4DGD1;Q6ZMN7 ABBA01031379;ABBA01031380;ABBA01031381;ABBA01031382;ABBA01031383;AC021651;AC073607;AC090531;AK091096;AK094690;AK131554;AK294431;AK294535;AL133067;AMYH01004398;AMYH01004399;AMYH01004400;AW297403;BC040922;BC093744;BC093746;BX640695;CH471111;NM_001164595;NM_013377 AAH40922;AAH93744;AAH93746;BAD18688;BAG52914;BAG57676;BAG57742;CAB61390;CAE45818;EAW57827;EAW57828;EAW57829;NP_001158067;NP_037509;Q6ZMN7 Hs.380044 1646904;1661721;1708088;1708926;1719593;1726997;1728287;1746385;1746407;1746441;1746443;1752343;1762593;2129050;2185103;2186048 D12S1271;G62896;G63423;G64333;G64334;G64335;G64336;RH11208;RH123701;SHGC-106266;SHGC-146391;SHGC-31383;SHGC-57125;SHGC-79515;SHGC-81442;WI-21835 LNX4;SAMCAP3L IMAGE5767589;OTTHUMP00000240901;OTTHUMP00000240902;OTTHUMP00000240903;PDZ domain-containing RING finger protein 4;SEMACAP3-like protein;ligand of Numb protein X 4 protein-coding ENSG00000165966 30552 15116 609730 VALIDATED 1606949 PEBP4 phosphatidylethanolamine-binding protein 4 The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008] 8 8 8 p21.3 21533122 21747804 - 22626710 22841366 - 22570765 22785421 - 6480464 16865237;19240061;19197339;18519826;15489334;15340161;15302887;12975309;12477932;10737800;20379614;20460377;22983920;22801881;21887552;22076923;22125029;22589738 157310 E5RIK3;Q96S96 ABBA01005527;ABBA01005528;ABBA01005529;ABBA01005530;ABBA01005531;AC037441;AC055854;AC105046;AMYH01018569;AY037148;AY359109;AY730275;BC020779;BF853000;CH471080;GM720450;NM_144962 AAH20779;AAK67629;AAQ89467;AAW56965;CAT16638;EAW63647;NP_659399;Q96S96 Hs.491242 1334566;1656501;1669870;1766453;1773258;1780030;2116245;2124658;5491715 D8S1752;G27363;G32141;RH124733;RH48790;SHGC-149783;SHGC-154288;SHGC-36225;SHGC-5739 CORK-1;CORK1;GWTM1933;MGC22776;PEBP-4;PRO4408;hPEBP4 OTTHUMP00000224721;cousin-of-RKIP 1 protein;phosphatidylethanolamine-binding protein 4;protein cousin-of-RKIP 1 APPROVED protein-coding ENSG00000134020 28319 11424 612473 VALIDATED 1344453 PEG13 paternally expressed 13 359809 AY151252 19969 736840 PEBP1 phosphatidylethanolamine binding protein 1 12 12 q24.23 117058253 117067773 + 118573870 118583390 + 1580863;2302865;2293882;2302863;2302869;2302667;2302735;2302862;2302868;2302867;2302870;2302864;2302866;6480464 18722266;17126425;11853019;15941609;17089028;7770119;12813171;16243812;18191186;15063784;10210891;18652693 22279539;15782137;15489334;15327891;15001550;14766752;14654844;12551925;12477932;12421765;11585904;11034991;10757792;10622376;10490027;9782050;8738137;8144042;8125298;7807553;7641877;1602151;1286669;16169070;7637590;17353931;17474147;19405953;19367706;19357705;19342899;19228192;19165527;19153603;19103740;19101508;19034380;18567796;18483365;18375747;18329792;18294816;18172264;17952120;17911631;17179102;17145707;17097642;17081983;17030190;17018026;16916643;16865242;16513087;22460832;19551145;19564817;19705153;20028985;20043910;19779262;20734161;19096942;21180766;19955695;19291429;20533335;20855151;20869966;20463977;20739083;20564197;21080875;21303975;20682295;21074977;21426659;22833545;22939629;22662230;22809510;18160415;23284715;21617351;21689459;21332389;21831839;21685394;19957553;20853079;21672326;21873975;21664646;22248055;18781797;21139048;21890473;21906983;21963094;22295570;21875465;21732351;22031589;22492043;22292035;22536838;21556737;22463874;22505648;22558375;22562283;22102006;22246605;22373584;22855160;23254962;23376254;23460950;23632477;23636063;22899242;22935977;23066033;18816836;21565611;21988832;22983529;23000965;23259789;23095933;23359513;22388727;16027165;22053931;23066640 5037 D9IAI1;P30086 ABBA01020051;AC026366;AK226006;AK299414;AK308056;AK311927;AMYH01004786;BC008714;BC017396;BC018799;BC031102;BF978793;CH471054;D16111;HM131449;NM_002567;S76773;X75252;X85033 AAD14234;AAH08714;AAH17396;AAH31102;ADI99998;BAA03684;BAG34868;BAG61396;CAA53031;CAA59404;EAW98122;EAW98123;NP_002558;P30086 Hs.433863 1299898;1688100;1744331;1796458;2123403;5125071;7184020 D12S366;GDB:451706;PBP_220;RH26435;RH80579;STS-X75252 HCNP;HCNPpp;PBP;PEBP;PEBP-1;RKIP HCNPpp;OTTHUMP00000239648;PEBP-1;Raf kinase inhibitory protein;hippocampal cholinergic neurostimulating peptide;neuropolypeptide h3;phosphatidylethanolamine-binding protein 1;prostatic binding protein;prostatic-binding protein;raf kinase inhibitor protein protein-coding ENSG00000089220 8630 06850 604591 VALIDATED 1314452 PEA15 phosphoprotein enriched in astrocytes 15 This gene encodes a death effector domain-containing protein, which is a major phosphoprotein in astrocytes, and an endogenous substrate for protein kinase C. Studies using knockout mice suggest that this protein may protect astrocytes from TNF-induced apoptosis. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. [provided by RefSeq, Sep 2011] 1 1 q21.1 158441749 158451786 + 160175125 160185162 + 1580863;6480464 10442631;9670003;8662970;19103758;19010903;18765665;18284607;18077417;17700518;17658892;17227770;17081983;17021921;16987961;16822839;16344560;16170361;16061647;16044159;15916534;15489334;15331596;15328349;14702039;12808093;12796492;12477932;11976344;11790785;11702783;10926929;10607908;10493725;9721757;9205133;8449955;16169070;22213050;20396999;20032303;20825483;20452983;20979872;20648624;18541525;19531639;19771552;20537721;20406097;21198825;19382910;21139048;21906983;17255949;21900206;21044950;22144664;21565611;22694972;22820249;22732408;23481023;21895963 8682 B1AKZ3;B1AKZ4;B1AKZ5;Q15121 ABBA01016613;AF153274;AI948916;AK095879;AK311762;AL121987;AL139011;AMYH01001451;BC002426;BC010469;BC022554;BT007252;CH471121;CR541733;DA532423;L37385;NM_003768;X86809;Y13736 AAA98120;AAD56775;AAH02426;AAH10469;AAH22554;AAP35916;ABM82747;ABM82750;ABM85934;BAG34705;BAG53155;CAA60499;CAA74076;CAG46533;EAW52733;EAW52734;EAW52735;NP_003759;Q15121 Hs.517216 1728949;1735224;2117591;2147618;2151431;2167572;2174602 A002L26;BCD1937;D10Bir17;D1S1839E;D1S3374;RH11797;T03437 HMAT1;HUMMAT1H;MAT1;MAT1H;PEA-15;PED 15 kDa phosphoprotein enriched in astrocytes;OTTHUMP00000029886;OTTHUMP00000029887;OTTHUMP00000029888;Phosphoprotein enriched in astrocytes, 15kD;astrocytic phosphoprotein PEA-15;homolog of mouse MAT-1 oncogene;phosphoprotein enriched in diabetes 2314798;2314801 GLUCO117_H;GLUCO120_H APPROVED protein-coding ENSG00000162734 8822 04579 603434 VALIDATED 2301272 PEG3-AS1 PEG3 antisense RNA 1 This gene is located in the paternally expressed gene 3 (PEG3) imprinted region on chromosome 19. A paternally imprinted antisense transcript of PEG3 is expressed from this gene and is localized in the 3' UTR of PEG3. A homologous transcript have been found in other mammalian species. This antisense transcript may be involved with the regulation of PEG3. [provided by RefSeq, Sep 2009] 19 19 q13.43 54365951 54367264 + 57323848 57325161 + 6480464 18166281;15950772 100169890 ABBA01020829;AC006115;AMYH01010022;NG_012989;NR_023847 1667068;1669049;1734708;1788650 D19S699E;RH18153;SHGC-32171;STS-W93046 APEG3;NCRNA00155;PEG3-AS;PEG3AS APPROVED miscrna 35127 VALIDATED 1349615 PECAM1 platelet/endothelial cell adhesion molecule 1 The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010] 17 17 q23.3 59753595 59817743 - 62396775 62404856 - 1581009;1581010;1598382;1580863;2311660;2311662;2311655;2311657;2311656;6480464;6771230;6771175;6771231;6771362;6484732;6767293;6771174;6771179;6771214;6771215;6771221;6771225;6771359;6767294;6771207;6771227;6771229;6771206;6483494;6771213;6771222;6767571;6771355;6767296;6771176;6771356;6771228;6771224;6767285;6771319;6771178;6771210;6771223;6484725;6767304;6771358;6771226;6771211;6771205;6771360;6771212;6771177;6771216;6484728;6484736;6484738;6766379;6767292;6767297;6771318;6771361;6907045;6906905 15265022;12732396;10571959;12121711;8989147;15042541;10329590;11795274;22534418;22092840;22465620;21864409;22658532;22336118;22119535;21967314;21702037;22806890;22751595;10780329;21960570;22227376;21858729;22615899;22553751;21872880;22592748;21719569;14613294;22351899;22832932;22174364;22053073;22101032;22555941;15488875;22369073;22211720;21979132;21839061;17659202;22737245;22456311;21984919;22697005;21788831;22451518;21892527;21781312;21982514;21760628;22717029;22552115;22548760;22382321;22336504;22153987;22331014;21890879;21940947 17922402;10801826;1690453;7994021;9290466;8080982;9054388;9774457;10350061;10858437;19424605;19342684;19306055;19258923;19236520;19212205;19183069;19056482;19055786;18983521;18848929;18821037;18710921;18698258;18672896;18583570;18519815;18393439;18388311;18327914;18301339;18243211;18182571;18060625;17954174;17940969;22496122;20631249;8467233;22723439;17785788;17704297;17703412;17580308;17510564;17509538;17483704;17460171;17429142;17365855;17348207;17212705;17194459;17130180;17116209;17113632;17106245;17068334;16984283;16681757;16551678;16518857;16507710;16426244;16357318;16308102;16219692;16002039;15985432;15908974;15756041;15753851;15731036;15668248;15644126;15592455;15589815;15550034;15550032;15489334;15249221;15249199;15231748;15196923;15065759;15048167;14991534;14754395;14566092;14519385;12915579;12893767;12893640;12850829;12775720;12689916;12681475;12658549;12653580;12651608;12649141;12646189;12616538;12610627;12581968;12552497;12477932;12468430;12433657;12397602;12393747;12393699;12393634;12378388;12215337;12127674;12110892;12027924;11940533;11927609;11791967;11776680;11719109;11469534;11250042;11149921;11056124;11019910;10982404;10655298;10425179;10091339;9774384;9624175;9620836;9551996;9298995;8955189;8876219;8661055;8532023;8226797;2351935;1874786;1700999;16169070;21183735;20369584;20400708;20723025;20470859;20485444;20581150;20602615;20673868;20589320;20724702;20675279;20403098;20473646;20850712;20634489;16044920;19332487;19570335;19578796;19661015;19729601;19850043;19851296;19897387;19956559;20074345;20173029;20194726;20198315;20220571;20370486;20452482;20503287;20051117;14702039;20492609;20712008;20403242;17192395;20864561;22396143;22000807;21486942;23106575;22109690;22372906;17464107;21840193;22213152;22246909;22395512;21190742;21898411;21378988;22189791;22204709;23308177;23264219;23418871;23264403 5175 Q9NQS9 ABBA01035302;ABBA01035303;ABBA01035304;AC016489;AC138744;AC234063;AF281287;AF281288;AF281289;AF281290;AF281291;AF281292;AF281293;AF281294;AF281295;AF281296;AF281297;AF281298;AF281299;AF281300;AF281301;AF393676;AF393677;AF393678;AK091419;AK290692;AK303959;AK304166;AMYH01008556;AMYH01008557;AMYH01008558;BC022512;BC051822;BG272085;CH471109;JQ287500;L34631;L34632;L34633;L34634;L34635;L34636;L34637;L34638;L34639;L34640;L34641;L34642;L34643;L34644;L34645;L34646;L34647;L34648;L34649;L34650;L34651;L34652;L34653;L34654;L34655;L34656;L34657;M28526;M37780;NM_000442;S66450;X96849 AAA36186;AAA36429;AAA60057;AAB28645;AAF91446;AAF91447;AAF91448;AAF91449;AAF91450;AAF91451;AAF91452;AAF91453;AAF91454;AAF91455;AAF91456;AAF91457;AAF91458;AAF91459;AAF91460;AAH22512;AAH51822;AAK84009;AAK84010;AAK84011;ABM84570;AFA36630;BAF83381;BAH14084;BAH14122;EAW94207;EAW94208;NP_000433;P16284 Hs.376675;Hs.514412 1651079;1722455;1763025;2130076;2155938;2171504;2217728;5015861;5022578;5022651;5037552;5112013;7185938 D10S16;D11S2921;D17S1992;D1S1423;D8S2279;G44352;G60155;PECAM1_1262;RH11535;RH11719;RH17926;SHGC-146770 CD31;CD31/EndoCAM;FLJ34100;FLJ58394;GPIIA';PECA1;PECAM-1;endoCAM CD31 antigen;CD31/EndoCAM;GPIIA';PECA1;PECAM-1, CD31/EndoCAM;adhesion molecule;endoCAM;platelet endothelial cell adhesion molecule APPROVED protein-coding 8823 01425 173445 REVIEWED 1603637 PECR peroxisomal trans-2-enoyl-CoA reductase 2 2 2 q35 210672701 210716120 - 216611377 216654777 - 216903111 216946539 - 6480464 10811639;19027726;16546181;15815621;15489334;12477932;11937624;11827452;11669066;11043578;22745130;19581569;20463177;18029348 55825 B4DJS2;Q9BY49 ABBA01062807;ABBA01062808;ABBA01062809;ABBA01062810;AC010686;AF212234;AF232009;AJ250303;AK296208;AK315795;AMYH01011488;BC002529;BG742200;BG939782;BU151224;BX471043;CH471063;CR457145;NM_018441 AAF69798;AAH02529;AAK14920;AAY14657;ACE87059;ACE87740;BAG38139;BAG58934;CAB89810;CAG33426;EAW70557;EAW70558;NP_060911;Q9BY49 Hs.281680 DCRRP;HPDHASE;HSA250303;PVIARL;SDR29C1;TERP 2,4-dienoyl-CoA reductase-related protein;DCR-RP;OTTHUMP00000206786;pVI-ARL;peroxisomal trans-2-enoyl-CoA reductase;putative short chain alcohol dehydrogenase;short chain dehydrogenase/reductase family 29C, member 1 protein-coding ENSG00000115425 18281 09320 605843 VALIDATED 1605152 PEF1 penta-EF-hand domain containing 1 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010] 1 1 1 p34 30364685 30380064 - 31868058 31883064 - 32095463 32110838 - 6480464 10486255;16189514;11278427;16429158;14702039;12975309;12804766;12477932;12445460;11883899;21145461;16344560;19060904;17207965;22939629;16196087;20000738;21139048 553115 E7ETX1;Q9UBV8 AB018357;AB026628;ABBA01023454;AC114488;AK001420;AK092483;AK301226;AMYH01000460;AY359011;BC002773;BC012561;BG546473;BI826532;CA307778;CH471059;CR542139;DB024828;DC301714;NM_012392;NR_033686;NR_033688 AAH02773;AAH12561;AAQ89370;ADQ31636;BAA84922;BAA85163;BAA91680;BAG62799;CAG46936;EAX07598;EAX07599;NP_036524;Q9UBV8 Hs.470417 1690874;1733168 D1S1472;RH79572 ABP32;PEF1A;PEFLIN OTTHUMP00000003953;PEF protein with a long N-terminal hydrophobic domain;peflin;penta-EF hand domain containing 1;penta-EF hand domain-containing protein 1 APPROVED protein-coding ENSG00000162517 30009 10143 610033 REVIEWED 1349907 PEG10 paternally expressed 10 This is a paternally expressed imprinted gene that encodes transcripts containing two overlapping open reading frames (ORFs), RF1 and RF1/RF2, as well as retroviral-like slippage and pseudoknot elements, which can induce a -1 nucleotide frame-shift. ORF1 encodes a shorter isoform with a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons. The longer isoform is the result of -1 translational frame-shifting leading to translation of a gag/pol-like protein combining RF1 and RF2. It contains the active-site consensus sequence of the protease domain of pol proteins. Additional isoforms resulting from alternatively spliced transcript variants, as well as from use of upstream non-AUG (CUG) start codon, have been reported for this gene. Increased expression of this gene is associated with hepatocellular carcinomas. [provided by RefSeq, May 2010] 7 7 q21 94123573 94136943 + 94285637 94299007 + 6480464 18625225;18550496;17942406;17621626;16423995;16344560;16225771;16093683;16053381;15767280;15716091;15611116;15342556;14576465;12853948;12810624;12620933;12477932;11574691;11318613;11158386;10470851;9110174;8619474;20460050;20084274;20362226;20484977;22863883;22939629;21767414;21205473;21903422;21987572;20972266;21139048;21455631;21890473;21906983;22673314;12589020;15231748;21963094;21988832;22137777 23089 B4DSP0;Q86TG7 AACC02000013;AACC02000014;AB028974;AB049150;AB049834;ABBA01045782;AC069292;AF038197;AF216076;AK025529;AK299837;AL589326;AMYH01017697;BC015448;BC050659;BP250746;CH236949;CH471091;DA297295;DA683494;NG_011340;NM_001040152;NM_001172437;NM_001172438;NM_001184961;NM_001184962;NM_015068;R17262;R79712 AAH50659;AAS07484;BAA83003;BAB43951;BAB68387;BAG61702;EAW76781;NP_001035242;NP_001165908;NP_001165909;NP_001171890;NP_001171891;NP_055883;Q86TG7 Hs.147492 1646450;1675156;2108351;2114565;5492669 PEG10_8006;STS-H51766;UniSTS:481964;WI-12157;WI-20034 Edr;HB-1;KIAA1051;MEF3L;Mar2;Mart2;RGAG3 MEF3 like 1;MEF3-like protein 1;OTTHUMP00000208295;OTTHUMP00000208296;embryonal carcinoma differentiation regulated;embryonal carcinoma differentiation-regulated protein;mammalian retrotransposon-derived protein 2;myelin expression factor 3-like protein 1;paternally expressed gene 10 protein;retrotransposon gag domain containing 3;retrotransposon gag domain-containing protein 3;retrotransposon-derived gag-like polyprotein;retrotransposon-derived protein PEG10;ty3/Gypsy-like protein APPROVED protein-coding ENSG00000242265 14005 609810 REVIEWED 1322359 PEG3 paternally expressed 3 In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009] 19 19 q13.4 62015615 62043876 - 57321445 57352094 - 1580863;6480464 18286529;16713569;16159311;16023706;15908796;15489334;12477932;11943780;11331620;11260267;11181995;10708526;10681424;9500555;9149948;11746496;18029348;19367087;19397955;19834535;20064927;23151531 5178 M0QXG1;M0QZD4;Q96Q96;Q9GZY2 AB003039;AB006625;ABBA01020829;AC006115;AF208967;AF208968;AF208969;AF208970;AF208980;AI089069;AK295679;AK307476;AMYH01010022;BC037330;BC052616;BC136268;BC150272;CH471135;CR933682;NG_012989;NM_001146184;NM_001146185;NM_001146186;NM_001146187;NM_006210;U90336 AAB50011;AAC83176;AAG35739;AAG35740;AAG35741;AAG35742;AAG42324;AAG42325;AAH52616;AAI36269;AAI50273;BAA22956;BAB85588;BAG58536;CAI45975;EAW72474;EAW72476;EAW72477;EAW72478;NP_001139656;NP_001139657;NP_001139658;NP_001139659;NP_006201;Q9GZU2 Hs.731875 1667068;1669049;1734708;1788650;1852057;2170721;5020277;5094920;5122503 D19S699E;PEG3;RH17474;RH18153;RH66112;SGC34114;SHGC-32171;STS-W93046;WI-22317 DKFZp781A095;KIAA0287;PW1;ZKSCAN22;ZNF904;ZSCAN24 Kruppel-type zinc finger protein;paternally expressed 3;paternally expressed gene 3;paternally-expressed gene 3 protein;zinc finger and SCAN domain-containing protein 24 APPROVED protein-coding ENSG00000198300 8826 03285 601483 REVIEWED 1353013 PELI2 pellino E3 ubiquitin protein ligase family member 2 14 14 14 q21 36634745 36817661 + 55654846 55837784 + 56585093 56768031 + 1580863;5490215;6480464 20086235 12860405;16713569;15489334;15213237;12804775;12477932;12370331;11306823;18326498;21460395;16884718;17675297;20379614;15276183;17997719;22669975;15917247;21988832;23144326;23192594;22505724 57161 H0YK56;H0YNF4;Q9H716;Q9HAT8 ABBA01018220;ABBA01018221;ABBA01018222;ABBA01018223;AF302502;AK025208;AK315727;AL133605;AL138995;AL355073;AL709755;AMYH01005749;BC009476;CH471061;NM_021255 AAG15390;AAH09476;BAB15084;BAG38082;CAH56388;EAW80689;NP_067078;Q9HAT8 Hs.657926 1340970;1659618;1667521;1704058;1731645;1753765;1848382;2110945;2178072;2187813 BCD1201;D14S1056;D14S107E;D14S146;G69464;RH44501;RH69581;SHGC-77859;SHGC-89219;WI-18078 E3 ubiquitin-protein ligase pellino homolog 2;OTTHUMP00000179021;pellino homolog 2;pellino-2;protein pellino homolog 2 APPROVED protein-coding ENSG00000139946 8828 17835 614798 VALIDATED 1322532 PELI1 pellino E3 ubiquitin protein ligase 1 2 2 2 p13.3 64165044 64216871 - 64173499 64192987 - 64319786 64371605 - 5490215;6480464 20086235 22105492;17675297;16951688;16344560;15917247;15489334;14702039;12804775;12496252;12477932;11306823;11132151;18326498;17207965;16884718;15276183;21221998;17997719;19081057;19734906;21120624;19264966;21890473;21204785;22505724 57162 Q53T26;Q96FA3 ABBA01075416;AC012368;AF300987;AF302505;AJ278859;AK027668;AK312441;AMYH01010397;AMYH01010398;AY364257;BC011419;BC050019;BC050533;BC063611;BM992606;BX649152;CH471053;DA804964;NM_020651 AAG15393;AAG17451;AAH11419;AAH50019;AAH63611;AAQ76816;AAY24274;ADQ32988;BAB55280;BAG35350;CAC04320;EAW99948;EAW99949;EAW99950;NP_065702;Q96FA3 Hs.741216 1675137;1677698;1734928;1776158;1776160;1783996;1857401;2172250;5015619;5016851;5017433;5019070;5022578 A002A16;A009Q06;D11S3114;D1S1423;D2S1618E;D2S1694E;G19846;G44334;RH12405;RH76159;RH80031;SHGC-142642;STS-T76997 DKFZp686C18116;MGC50990 E3 ubiquitin-protein ligase pellino homolog 1;OTTHUMP00000159897;pellino homolog 1;pellino-1;pellino-related intracellular-signaling molecule;protein pellino homolog 1 APPROVED protein-coding ENSG00000197329 8827 17834 614797 VALIDATED 1348424 PEPB peptidase B 5182 8838 169900 1345031 PEPC peptidase C 6480464 5183 8839 170000 1605259 PELI3 pellino E3 ubiquitin protein ligase family member 3 The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 11 11 11 q13.2 63554147 63565058 + 65990912 66001384 + 66233798 66244808 + 5490215;6480464 20086235 12874243;16344560;15917247;15489334;14702039;12477932;16884718;17675297;18326498;21832049;21926972;23042151 246330 E9PI91;E9PQX6;E9PR85;H0YEM6;Q8N2H9 ABBA01024076;AF487456;AF487457;AK074201;AK075253;AK094060;AL834395;AMYH01003735;AP002748;BC021256;BC025723;BC127759;BX341733;CH471076;CQ783886;DA203229;NG_029627;NM_001098510;NM_001243135;NM_001243136;NM_145065 AAH21256;AAH25723;AAI27760;AAO49465;AAO49466;BAB85015;BAC04275;BAC11499;CAD39057;CAF86908;EAW74532;EAW74533;EAW74534;EAW74535;EAW74536;NP_001091980;NP_001230064;NP_001230065;NP_659502;Q8N2H9 Hs.656875 5107803 RH69877 MGC35521 E3 ubiquitin-protein ligase pellino homolog 3;OTTHUMP00000235209;OTTHUMP00000235210;OTTHUMP00000235212;OTTHUMP00000235213;pellino 3;pellino homolog 3;pellino-3;protein pellino homolog 3 APPROVED protein-coding ENSG00000174516 30010 17535 609827 REVIEWED 1350203 PEPE peptidase E 5185 8841 170200 732310 PEMT phosphatidylethanolamine N-methyltransferase Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012] 17 17 p11.2 17349602 17435719 - 17408877 17495017 - 1580863;1300048;729486;1642369;1642370;1642378;6480464;6907045 8344945;17156888;17116711;7929120 9989271;19343046;19262398;19260141;19211833;19167960;18230680;17881348;17720317;17456783;17391797;16816108;16051693;15927961;12931022;12842883;12477932;12431977;11997338;11420179;10931946;10100195;9371769;9370326;8978486;7219528;6830234;3223955;3025802;2722775;2295142;509240;21411618;19913121;20628086;20662904;17207965;19647326;19737740;19878569;20379614;20492333;20534746;20861172;22387881;21378990;21059658;21881829;21429654;22779921 10400 D3YTC7;J3KTR2;J3QLU8;Q9Y6V9 AB029821;ABBA01009756;ABBA01009757;ABBA01009758;AC020558;AF044214;AF113126;AF176806;AF176807;AF294468;AK302251;AMYH01008159;BC000557;BC050593;BM011377;CH471196;CR457099;EU574003;NM_001267551;NM_001267552;NM_007169;NM_148172;NM_148173 AAD53291;AAD53292;AAF14867;AAH00557;AAH50593;AAK19172;AAQ13425;ACB21050;ADQ33077;BAA82407;BAG63603;CAG33380;EAW55700;EAW55701;EAW55702;NP_001254480;NP_001254481;NP_009100;NP_680477;NP_680478;Q9UBM1 Hs.714193 1336752;2119609 D10S604;RH11851 MGC2483;PEAMT;PEMPT;PEMT2;PNMT OTTHUMP00000065535;OTTHUMP00000065536;OTTHUMP00000065537;OTTHUMP00000065538;OTTHUMP00000065539;phosphatidylethanolamine N-methyltransferase APPROVED protein-coding ENSG00000133027 8830 03862 602391 REVIEWED 1343336 PELO pelota homolog (Drosophila) This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 49037324 49052004 + 52119531 52134208 + 52083774 52098451 + 1580863;6480464;6907045 17353931;17669516;17081983;15635413;15489334;14702039;12477932;11060452;10810093;21145461;20406461;20306291;19913121;20628086;21448132;22990118;17314511;21987572;21139048;21906983;22020760;21963094;23000965;23509613;22053931;22190034;22505724;22797925 53918 Q9BRX2;Q9UHT8 ABBA01015716;AC026230;AF118075;AF132951;AF139828;AF143952;AK025729;AK056144;AK312633;AMYH01015078;AY117399;BC005889;BC007249;BC007650;BC022789;CH471123;NM_015946 AAD27726;AAF22019;AAG22574;AAG22575;AAH05889;AAH07249;AAH07650;AAH22789;AAM89414;ABM83876;ABM87197;BAG51633;EAW54864;EAW54870;NP_057030;Q9BRX2 Hs.644352 1664792;1718721;1724255;1735570;1790169;1794248;2125775 D5S1686E;L28297;PMC310876P1;Pelo;RH121270;RH123048;SHGC-32850 CGI-17;PRO1770 OTTHUMP00000122446;protein pelota homolog APPROVED protein-coding 8829 09309 605757 REVIEWED 1604366 PELP1 proline, glutamate and leucine rich protein 1 This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 17 17 p13.2 4521428 4554381 - 4574679 4607632 - 6480464 19478391;19048289;18950845;18682536;18559538;18505929;18261753;18079323;17804729;17545633;17192406;17128415;17081983;16826428;16574651;16567619;16565220;16352611;16297421;16140940;16021574;15994929;15579769;15489334;15456770;15374949;15345747;15231748;14963108;12682072;22586326;12477932;12403846;11481323;15466214;16169070;20448663;12639951;22403175;19321449;15960975;19495959;19800002;21695158;19394292;21326211;20442285;21252943;17893145;21182205;22939629;22990118;21421858;19596686;19471022;21139048;21549307;21693764;21735116;21906983;22086908;19738201;20195357;21963094;22963397;22992812;22190735;23486015;23497172;22797925 27043 C9JFV4;E7EV54;F8WDZ1;I3L1P4;I3L3A8;I3L445;I3L4M7;I3L4P1;Q8IZL8 ABBA01054772;AC091153;AF547989;AI927300;AK226056;AK291163;AK293838;AK299084;AMYH01008041;AY882602;BC002875;BC010457;BC039131;BC069058;BI752899;CH471108;DC417876;NM_014389;NR_046388;U88153;U88154 AAC17708;AAC17709;AAH02875;AAH10457;AAH69058;AAN41255;AAW80659;BAF83852;BAG57238;BAG61148;EAW90424;EAW90425;EAW90426;NP_055204;Q8IZL8 Hs.744899 HMX3;MNAR;P160 modulator of non-genomic activity of estrogen receptor;modulator of nongenomic activity of estrogen receptor;proline and glutamic acid rich nuclear protein;proline, glutamic acid and leucine rich protein 1;proline-, glutamic acid- and leucine-rich protein 1;proline-, glutamic acid-, leucine-rich protein 1;transcription factor HMX3 APPROVED protein-coding ENSG00000141456 30134 10144 609455 VALIDATED 1317337 PEO1 progressive external ophthalmoplegia 1 Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM] 10 q23.3-q24.3 102737302 102744148 + 1580863;1600544;6480464;7240710 11431692 17620490;17324440;16135556;15668446;15509589;15181170;15167897;15164054;14702039;12975372;12921794;12872260;12707443;12686611;12557300;12477932;12163192;11756592;7719341 56652 E5KSY5;Q96RR1;Q9H6V3 AF292004;AF292005;AK022959;AK025485;AL133215;BC013349;BC033762;BG473173;BX640829;CH471066;CR593649;CR626239;NM_021830 AAH13349;AAH33762;AAK69558;AAK69559;BAB15148;CAE45905;CAI10924;CAI10925;EAW49793;EAW49794;NP_068602;Q6PJP5;Q96RR1;Q9H6V3 Hs.22678 1336971;1658318;1661459;1661698;2155328;7185217 A004R30;D10S1265;D10S192;SHGC-32265;STS-D11794;STS-W80406 C10orf2;FLJ21832;PEO;PEOA3;SANDO;TWINL protein-coding 8834 05830 271245;606075;609286 1342716 PERQ2 PERQ amino acid rich, with GYF domain 2 59281 13642 1352026 PERQ3 PERQ amino acid rich, with GYF domain 3 59280 13643 68998 PENK proenkephalin 8 8 q23-q24 57516070 57521143 - 57353513 57359282 - 1580863;6480464 7057924;19086053;18391951;18184800;18082911;17599100;17503481;17198183;17074347;16621157;16406203;15489334;12477932;12000709;11140838;9357452;9126357;8206338;7829101;7759618;7704301;7560016;7559749;6761648;6281660;2893547;1729392;20546612;20628265;21810780;22393040;18240029;19874574;20207019;20379614;18577758;20734064;21890473;22102294;22391864;22745721 5179 E5RFR1;E5RIP6;E5RJ72;H0YBT5;P01210 ABBA01041769;AC023464;AK314908;AMYH01018736;BC032505;BC107706;BI496610;BI913625;CH471068;CR541808;CR541828;DB496514;J00122;J00123;NM_001135690;NM_006211;V00509 AAB59409;AAH32505;AAI07707;ABM81791;ABM81797;ABM84953;BAG37420;CAA23767;CAG46607;CAG46627;EAW86785;EAW86786;EAW86787;NP_001129162;NP_006202;P01210 Hs.339831 1335586;1651103;1740903;1742077;1786530;1796502;2151821;2190853 D8S1816;GDB:174923;GDB:190878;PENK;PENK_1026;RH18068;RH46963;SHGC-106945 OTTHUMP00000226644;OTTHUMP00000226645;OTTHUMP00000226646;enkephalin A;preproenkephalin;proenkephalin-A protein-coding ENSG00000181195 8831 08837 131330 VALIDATED 6484109 PES1P1 pescadillo ribosomal biogenesis factor 1 pseudogene 1 4 q28.3 135248148 135250145 + 345016 ABBA01044877;AC096748;AC109830;AMYH01014545;NG_022080 1718273 RH122908 pseudo 44058 INFERRED 6484108 PES1P2 pescadillo ribosomal biogenesis factor 1 pseudogene 2 9 p23 13986118 13988110 + 347193 ABBA01065306;AL360089;AMYH01019236;NG_021640 pseudo 44059 INFERRED 1349050 PER1 period circadian clock 1 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jul 2008] 17 17 p13.1 7984515 7996427 - 8043788 8055753 - 1580863;6480464 17440215;17274950;17264841;17106427;17081983;17051316;16757810;16678109;16528748;16344560;15917222;15790588;15781181;14750904;14712925;12916719;12893774;12782655;12477932;11865049;11726537;11597585;11306557;11165242;11119726;10940553;10857746;10848614;10837028;10790862;10531061;9856465;9333243;9323128;19296127;19148895;19058789;19013183;18990770;18821565;18480551;18444243;18321934;18228528;18095154;17994337;17984998;17971899;17699798;17621597;17592726;9455484;9427249;15800623;22318606;18411297;20360068;19912323;17718421;19675098;19693801;19752089;19839995;19861640;19923301;19934327;20072116;20174623;20481271;20861012;20541418;20978934;22990118;23129285;23034908;21411511;21380491;21459569;22217103;21988832;23000965;23133559;23242607;17463251;23455922;23503662;23546644;23584858;22801371 5187 B4DI49;J3KRL7;J3KSL6;J3KTM2;J3QL46;J3QL55;J3QLQ5;J3QSH9;O15534 AB002107;AB030817;AB088477;ABBA01054897;AC129492;AF022991;AF102137;AF284444;AI952483;AK291061;AK295410;AMYH01008088;BC028207;BC072458;BC137346;BC144593;CH471108;DA411574;DA835861;NM_002616 AAC51765;AAF15544;AAG01149;AAH72458;AAI37347;BAA22633;BAA94085;BAC06326;BAF83750;BAG58361;EAW90088;EAW90089;EAW90090;EAW90091;NP_002607;O15534 Hs.445534 1681257;2110643;2176232;2189417;5037744 D1S3694;MARC_5483-5484:991951035:2;PER1_374;RH98396;STS-N78772 MGC88021;PER;RIGUI;hPER Period, drosophila, homolog of;circadian clock protein PERIOD 1;circadian pacemaker protein RIGUI;hPER1;period circadian protein homolog 1;period homolog 1 APPROVED protein-coding ENSG00000179094 8845 03774 602260 REVIEWED 1352533 PER3 period circadian clock 3 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. [provided by RefSeq, Jul 2008] 1 1 p36.23 7767350 7827824 + 7844763 7905237 + 1580863;6480464 18517031;19516903;19360490;19328558;19013183;18990770;18835917;18789374;18714788;17984998;17512705;17451453;17346965;17309758;16999817;16710414;16528748;15790588;15700718;15475734;14750904;14712925;14701732;12655319;12477932;11865049;11306557;10899319;10837028;10428031;9427249;7622044;15800623;18444243;19444755;19553435;19693801;19839995;19861640;19926609;19934327;20072116;20149345;20174623;20364331;20469812;19716732;19967263;20978934;20625127;21070773;21102463;19913121;20628086;22689435;22809120;22881285;22971169;21411511;21176035;21316201;22217103;21459569;20360068;21559414;21714069;21729600;21919721;22188742;22324552;22318606;22543063;22467995;23546644;22976125;23524621;22169200;22350604;22942500 8863 A2I2N5;Q8TAR6;Q9UGU8 AB047521;AB047530;AB047531;AB047532;AB047533;AB047534;AB047686;ABBA01035490;ABBA01035491;AK299123;AK307760;AK308303;AL157954;AMYH01000225;AY493418;BC026102;BC111010;BC144137;BC146781;CH471130;EF015893;NM_016831;Z98884 AAH26102;AAI11011;AAI46782;AAS72879;ABM64204;ADZ15752;BAB32925;BAB63250;BAB63251;BAB63252;BAB63253;BAB63254;BAB63255;BAG61177;CAB76084;EAW71583;EAW71584;EAW71585;EAW71586;NP_058515;P56645 Hs.162200 1688392;1691946;1732866;1750079;1797982;1857286;1858076;2118212;2164881;2181982;5119835;5123883 AL033593;D1S1294;D1S3614;GDB:182522;PER3_1734;RH93635;SHGC-112332;SHGC-53173;SHGC-74162;SHGC-74167;SHGC-74175;SHGC-74176 GIG13 OTTHUMP00000001353;OTTHUMP00000001354;cell growth-inhibiting gene 13 protein;circadian clock protein PERIOD 3;growth-inhibiting protein 13;hPER3;period 3;period circadian protein 3;period circadian protein homolog 3;period homolog 3 APPROVED protein-coding ENSG00000049246 8847 09138 603427 REVIEWED 1354493 PEPD peptidase D This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 19 19 q13.11 38569701 38704641 - 33877855 34012799 - 1580863;6480464;7240710 1972707;18989777;18607169;18550075;18514097;18387361;18202846;17999410;17604013;17570078;17377743;17142620;17096092;16999949;16713569;16097034;15878628;15489334;15309682;15302935;14702039;12477932;12384772;11840567;11820613;10965990;9328822;9020526;8900231;8198124;8125298;2925654;2881880;2705457;2365824;21145461;19263194;19401414;19823062;20087956;20383038;20486204;20626024;20868675;22811354;20437180;22863883;21304409;21722016;22245250;22581228;22185542;21139048;21906983;22158537;22479202;22258852;21044950;23287645;21988832;23212918;23457135;22053931;22999980 5184 K7ELD1;K7ELK4;K7ENZ8;K7EQ51;K7ES25;Q8TBN9 ABBA01004306;ABBA01004307;ABBA01004308;ABBA01004309;ABBA01004310;ABBA01012594;AC008744;AC010485;AK057538;AK225037;AK290756;AK290781;AK291561;AK293126;AK294619;AMYH01009704;AW512991;BC004305;BC015027;BC028295;BT006692;CR541669;DC385464;DC395475;J04605;M35496;NG_013358;NM_000285;NM_001166056;NM_001166057 AAA60064;AAH04305;AAH15027;AAH28295;AAP35338;ABM82040;ABM85220;BAF83445;BAF83470;BAF84250;BAG56678;BAG57802;CAG46470;NP_000276;NP_001159528;NP_001159529;P12955 Hs.36473 1341467;1659235;1743625;1743835;1743837;1754225;2126943;2148128;2156398;2187418;2219486;5120606;5120608;5120610;5120612 D19S1004;D19S719;GDB:362655;GDB:362661;GDB:362665;GDB:362670;GDB:362675;GDB:374532;GDB:374535;PEPD__5665;RH11766;RH47236;SHGC-132252;SHGC-33750;STS-W87536 MGC10905;PROLIDASE X-Pro dipeptidase;aminoacyl-L-proline hydrolase;imidodipeptidase;proline dipeptidase;xaa-Pro dipeptidase APPROVED protein-coding ENSG00000124299 8840 01358 170100;613230 REVIEWED 5688594 PET117 PET117 homolog (S. cerevisiae) 20 p11.23 18118499 18123813 + 22356826;12975309;8889548 100303755 L0R6F6;Q6UWS5 ABBA01054043;AL050321;AMYH01011742;AY358666;BI601826;BM984163;CS072292;HF548004;NM_001164811 AAQ89029;CAI93430;CCO13715;NP_001158283;Q6UWS5 Hs.488051 1666274;2143674 D20S1140;STS-N40959 CSRP2BP alternative protein CSRP2BP;cytochrome c oxidase assembly factor-like;protein PET117 homolog, mitochondrial protein-coding ENSG00000232838 40045 614771 VALIDATED 737181 PER2 period circadian clock 2 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. [provided by RefSeq, Jul 2008] 2 2 q37.3 238817418 238861946 - 239152679 239197207 - 1600411;1580863;6480464;7240710 11232563 18518968;10428031;17218255;9427249;19470168;19299560;19106159;19058789;19013183;18575464;18517031;18505821;18444243;18430226;17971899;17599055;17457720;17440215;17274950;17106427;16528748;16519674;16344560;16338760;16120104;16097765;15985538;15815621;15800623;15790588;14750904;14712925;12565145;12477932;12372299;11533252;11165242;11076863;10848614;10837028;10531061;9856465;9349507;9205841;7592751;22634208;19500131;19605937;19693801;19714310;19839995;19916842;19926610;19934327;20072116;20174623;20180986;20187847;20396431;20481271;20497782;20886252;20931356;20978934;21050724;19913121;20554694;20628086;19957060;20360068;21814225;22105622;23003921;21411511;21324900;21380491;22260161;22905719;22081238;21990077;21890473;22318606;21463335;22217103;22504483;22137505;22166120;19322201;22623394;17463251;23546644;22984121;22832851 8864 E9PD89;F5GYD5;O15055 AB002345;AB012614;ABBA01042605;AC012485;AK294876;AK304108;AMYH01011605;AY647991;CH471063;DA226434;EF015905;NG_012146;NM_022817 AAI11454;AAT68170;AAX88976;ABM64216;BAA20804;BAA83709;BAG57975;BAG65011;EAW71153;EAW71154;EAW71155;NP_073728;O15055 Hs.58756 2108865;2133400;5015861;5015961;5022651;5037552;7185938 D10S16;D11S2921;D15S1477;D8S2279;PER2_3226.2;SHGC-52384 FASPS;FASPS1;KIAA0347 OTTHUMP00000164476;circadian clock protein PERIOD 2;hPER2;period 2;period circadian protein 2;period circadian protein homolog 2;period homolog 2 APPROVED protein-coding ENSG00000132326 8846 04575 603426;604348 REVIEWED 1321113 PERP PERP, TP53 apoptosis effector 6 6 q24 138453619 138470280 - 138409642 138428660 - 6480464;6907045 21254927;19158843;16344560;16303743;15489334;14726658;14702039;14574404;12752121;12477932;11062687;10733530;8889548;8125298;19913121;20628086;19353588;20306497;20453000;18029348;20800603;19040420;20975948;21451571;23568457;22515648;18387192 64065 Q96FX8 ABBA01025812;AF317550;AJ251830;AK074585;AK075082;AK093516;AK097387;AK097958;AK225907;AK314526;AL023582;AL355362;AMYH01016702;AY157578;BC010163;BU674771;CA310443;CH471051;CQ782552;CX784592;DA750046;DR422553;JA738623;NM_022121 AAG35063;AAH10163;AAO13162;ABM83596;ABW03525;BAC05205;BAC11074;BAC11390;BAG37120;BAG52734;BAG53462;CAC17766;CAF85829;CCF76964;EAW47920;EAW47921;NP_071404;Q96FX8 Hs.201446 1337847;1665753;1668560;1852071;2219490 D6S1587;PERP__5667;RH36130;RH46733;WI-18594 KCP1;KRTCAP1;PIGPC1;RP3-496H19.1;THW;dJ496H19.1 1110017A08Rik;KCP-1;OTTHUMP00000017293;keratinocyte-associated protein 1;keratinocytes associated protein 1;p53 apoptosis effector related to PMP-22;p53 apoptosis effector related to PMP22;p53-induced protein PIGPC1;transmembrane protein THW protein-coding 17637 17836 609301 VALIDATED 5135069 PET100 PET100 homolog (S. cerevisiae) 19 19 19 p13.2 7565855 7567694 + 7600677 7602961 + 7694671 7696510 + 21906983;14702039;16712791;8889548;12477932;22356826 100131801 M0QZ55;M0R022;P0DJ07 ABBA01010893;ABBA01010894;AC008763;AK124717;AMYH01009410;AW009489;BC150496;BU740873;CB119056;CD641681;CH471139;NM_001171155;NR_033242 EAW69020;NP_001164626;P0DJ07 Hs.728837 2157807 SHGC-35712 C19orf79;FLJ42727 hypothetical protein LOC100131801;protein PET100 homolog, mitochondrial;uncharacterized protein C19orf79 APPROVED protein-coding 40038 614770 VALIDATED 1317305 PET112 PET112 homolog (yeast) 4 4 4 q31.3 149915711 150006079 - 152811451 152901596 - 152591808 152682175 - 1580863;6480464 12665801;12477932;11042152;8125298;9878253;15342556;17903297;19805282;20877624;18029348;21139048 5188 B4E0P2;D6RDU9;D6REA0;D6RGY4;H0Y8G7;H0Y9F2;H0Y9W6;O75879 AB019410;ABBA01070118;ABBA01070119;AC092611;AF026851;AF151033;AK222887;AK225241;AK303461;AK312957;AMYH01014619;AMYH01014620;BC067838;BC130348;BC136547;BP348031;BX537555;CH471056;NM_004564 AAD08640;AAF36119;AAI30349;AAI36548;AAY40897;BAD96607;BAG35796;BAG64504;CAH56162;EAX04981;EAX04982;EAX04983;NP_004555;O75879 Hs.119316 1690161;1712290;1723373;1772728;2108353;2130190;2139036;2181021;2185764;5491699 G24097;G54054;MARC_8163-8164:996688339:1;PET112L_8531;RH118426;RH92902;SHGC-34696;SHGC-36970;SHGC-50453;SHGC-59699 HSPC199;PET112L OTTHUMP00000220541;OTTHUMP00000220542;cytochrome c oxidase assembly factor PET112 homolog;cytochrome oxidase assembly factor PET112 homolog;glu-ADT subunit B;glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial;probable glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial APPROVED protein-coding ENSG00000059691 8849 04706 603645 VALIDATED 1345815 PES1 pescadillo ribosomal biogenesis factor 1 This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011] 22 22 q12.1 29302612 29317894 - 30972612 31003000 - 1580863;6480464 17353931;15489334;15273728;16043514;16738141;17353269;16344560;15635413;15467761;15461802;15225545;14702039;12477932;12429849;12022229;11790298;11071894;10591208;9847074;8985183;19764998;20011973;22860098;22939629;19454010;11337467;22863883;18781797;19596686;19471022;21139048;21693764;21890473;21906983;22586326;22623531;21145461;22820289;22505724;22797925 23481 B2RDF2;B3KXD6;B5MCF9;C9JXJ1;H7BYY8;H7C267;O00541 AB451380;ABBA01055303;AC005006;AK096320;AK125778;AK127185;AK315518;AMYH01012708;AMYH01012709;AU098520;AU130886;BC032489;BQ576244;CH471095;CR456539;NM_001243225;NM_014303;NR_036550;U78310 AAB61140;AAH32489;BAC86285;BAG37899;BAG53258;BAG54448;BAG70194;CAG30425;CAK54570;CAK54869;EAW59904;EAW59905;EAW59906;NP_001230154;NP_055118;O00541 Hs.517543 1677228 RH91560 FLJ43790;PES OTTHUMP00000199068;OTTHUMP00000199070;OTTHUMP00000199071;OTTHUMP00000199072;OTTHUMP00000199073;pescadillo homolog;pescadillo homolog 1, containing BRCT domain APPROVED protein-coding ENSG00000100029 8848 05783 605819 REVIEWED 5129248 PEX12P1 peroxisomal biogenesis factor 12 pseudogene 1 13 13 13 q31.3 71489259 71490611 + 89441798 89443150 + 90643797 90645149 + 121727 ABBA01027253;AL359842;AMYH01005280;NG_011336 pseudo 39678 INFERRED 1346322 PEX1 peroxisomal biogenesis factor 1 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. [provided by RefSeq, Jul 2008] 7 7 q21.2 91954273 91995781 - 92116337 92157845 - 1580863;6480464;7240710 16854980;16449325;9398847;9588209;11439091;19105186;18391951;16344560;16257970;16141001;16088892;16086329;15502339;15489334;15328346;15098234;12853948;12840548;12717447;12690205;12477932;12402331;12126625;12032265;10447258;9671729;9539740;9447990;9398848;2606480;18029348;20546612;21252943;21846392;17370265;21890473;21906983;20301621;22505724 5189 B4DEY5;E9PE75;H7BZH3;O43933 AACC02000014;AB008112;AB052090;AB052091;AB052092;AB052093;AB052094;AB209355;ABBA01045802;AC000064;AC007566;AF026086;AF030356;AI377121;AK292955;AK293757;AK293848;AK295686;AMYH01017691;BC035575;CH236949;CH471091;DA313282;DB461678;NG_008341;NM_000466 AAB46346;AAB87880;AAB99758;AAH35575;ABM81847;BAA85162;BAB59061;BAB59062;BAB59063;BAB59064;BAB59065;BAD92592;BAF85644;BAG57177;BAG57246;BAG58539;EAL24149;EAL24151;EAW76840;EAW76841;EAW76842;EAW76843;EAW76844;NP_000457;O43933 Hs.164682 1654660;1665953;1688265;1789338;5014039;5022578;5114515 D1S1423;D22S1584;G31804;G67887;RH45033;RH92096;SHGC-56142 PBD1A;PBD1B;ZWS;ZWS1 OTTHUMP00000161972;OTTHUMP00000209039;OTTHUMP00000209040;Zellweger syndrome;peroxin-1;peroxisome biogenesis disorder protein 1;peroxisome biogenesis factor 1 APPROVED protein-coding ENSG00000127980 8850 03682 202370;214100;266510;601539;602136 REVIEWED 1319563 PEX10 peroxisomal biogenesis factor 10 This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 p36.32 2326101 2333870 - 2336241 2344010 - 1580863;6480464;7240710 10837480;9700193;9683594;9922452;19105186;16710414;16344560;15489334;14713216;14702039;12477932;11390669;10862081;10704444;10562279;12096124;19549727;20695019;22990118;22318606;22733822;22197933;22493164;21525035;22002062 5192 D6RA89;D6RBB0;D6RIF5;J3KRE0;J3QRM4;O60683 AB013818;ABBA01016095;AF060502;AK124816;AL513477;AMYH01000173;BC000543;BC018198;CH471183;CR542077;DA439481;NG_008342;NM_002617;NM_153818 AAC18133;AAH00543;AAH18198;ABM82887;ABM86077;BAA87895;BAG54100;CAG46874;EAW56105;EAW56106;EAW56107;EAW56108;NP_002608;NP_722540;O60683 Hs.732228 1335601;1646801;1796504;2137747;5019034 D20S185;G43268;PEX10_1028;SHGC-30638;SHGC-74114 MGC1998;NALD;PBD6A;PBD6B;RNF69 OTTHUMP00000001658;OTTHUMP00000221357;OTTHUMP00000221358;RING finger protein 69;peroxin 10;peroxin-10;peroxisome assembly protein 10;peroxisome biogenesis factor 10 APPROVED protein-coding ENSG00000157911 8851 04175 202370;214100;602859;614870;614871 REVIEWED 1348303 PEX11A peroxisomal biogenesis factor 11 alpha This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 15 15 15 q26.1 66629060 66636731 - 88027288 88034962 - 90226284 90233958 - 1580863;6480464 11839773;12417726;21419861;18782765;9792670;9714566;9922452;17220199;16567422;15489334;14702039;12477932;10704444;20826455;16344560 8800 B2R8C6;B4DMF6;B4DV88;H0YMC7;H0YN61;O75192 AB015594;ABBA01053019;AC013787;AF093668;AI494060;AK001415;AK297442;AK300978;AK313318;AL360141;AMYH01006916;BC009697;BC101164;BC114384;CH471101;CR542046;CR542075;DA773492;NM_001271572;NM_001271573;NM_003847 AAC78658;AAH09697;AAI01165;AAI14385;ABM84294;ABM87685;ABM87686;ABM87687;ABW03601;BAA32533;BAG36123;BAG50908;BAG59868;BAG62600;CAG46843;CAG46872;EAX02062;NP_001258501;NP_001258502;NP_003838;O75192 Hs.31034 1667372;1698530;1857165;2122433 G31006;RH102816;RH77793;STS-H53572 MGC119947;MGC138534;PEX11-ALPHA;PMP28;hsPEX11p 28 kDa peroxisomal integral membrane protein;OTTHUMP00000194685;PMP28;hsPEX11p;peroxin-11A;peroxisomal biogenesis factor 11A;peroxisomal membrane protein 11A;protein PEX11 homolog alpha protein-coding ENSG00000166821 8852 04843 603866 REVIEWED 1316043 PEX11G peroxisomal biogenesis factor 11 gamma The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 19 19 19 p13.2 7414267 7426410 - 7447761 7459905 - 7541756 7553924 - 1580863;6480464 15489334;12559946;12477932;12417726;20826455 92960 M0R328;Q96HA9 AB095921;ABBA01010901;AC008878;AL833945;AMYH01009405;AW779397;BC008780;BI833221;CH471139;HY002496;NM_001270539;NM_080662 AAH08780;ADZ15363;BAD01558;CAD38800;EAW69037;EAW69038;NP_001257468;NP_542393;Q96HA9 Hs.515100 1701368 RH104314 MGC4281 PEX11-gamma;Pex11pgamma;peroxin Pex11p gamma;peroxin-11C;peroxisomal biogenesis factor 11C;peroxisomal biogenesis factor 11G;peroxisomal membrane protein 11C;protein PEX11 homolog gamma APPROVED protein-coding ENSG00000104883 20208 16250 607583 REVIEWED 731687 PEX12 peroxisomal biogenesis factor 12 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] 17 17 q12 30925928 30929687 - 33901814 33905656 - 729522;1580863;6480464;7240710 9632816 10562279;9090384;12456682;9354782;9922452;19105186;17534573;16813573;16344560;15489334;15241794;14571262;12477932;12096124;11390669;10837480;10704444;9792857;9792670;20301621;21525035;22002062 5193 K7ELY8;O00623 AB004546;ABBA01011230;AC015911;AI341587;AK312635;AMYH01008354;BC015751;BC031085;CH471147;DA298874;NG_008447;NM_000286;U91521;U91522 AAC68812;AAC68813;AAH15751;AAH31085;ABM85048;BAA31559;BAG35519;EAW80143;NP_000277;O00623 Hs.591190 1734492;1796506 D17S1445E;PEX12_376 PAF-3;PBD3A OTTHUMP00000163882;peroxin 12;peroxin-12;peroxisome assembly factor 3;peroxisome assembly protein 12 APPROVED protein-coding ENSG00000108733 8854 03455 266510;601758;614859 REVIEWED 1321208 PEX11B peroxisomal biogenesis factor 11 beta The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] 1 1 1 q21.1 119719522 119727100 + 144227740 144235088 + 145516165 145523732 + 1580863;6480464 10704444;17408615;15489334;14702039;12618434;12477932;12096124;9826565;9792670;11390669;16344560;19229552;9922452;20826455;16712791;20877624;23308220;21139048;21906983;14709540;23275563;22581968;22581969 8799 H7C3V6;O96011 AB018080;ABBA01005742;AC243547;AF093670;AK023991;AK094173;AK301983;AL160282;AMYH01001373;AW162134;BC011963;BG423552;BG435901;CB155824;CH471244;CR542047;DA157450;DA175538;DB054933;HY108328;NG_033000;NM_001184795;NM_003846;NR_073491;NR_073492;NR_073493 AAC78660;AAH11963;BAA34812;BAG51247;BAG52835;BAG63391;CAG46844;EAW71422;EAW71423;NP_001171724;NP_003837;O96011 Hs.714608 1770952;1794784;1795210;5037552;5118800 D11S3663;D8S2279;PEX11B_1032;PMC55504P1;WI-18366 PEX11-BETA;PEX14B OTTHUMP00000015598;peroxin-11B;peroxisomal biogenesis factor 11B;peroxisomal membrane protein 11B;protein PEX11 homolog beta protein-coding ENSG00000131779 8853 04844 603867;614920 REVIEWED 1321726 PEX13 peroxisomal biogenesis factor 13 This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008] 2 2 p16.1 61098374 61129896 + 61244812 61279125 + 1580863;6480464;7240710 8858165;9653144;10704444;16449325;16344560;16006427;15489334;15146197;14715663;12477932;12096124;11865044;11402059;11390669;10441568;10441330;10332040;10087260;9878256;9094717;17207965;17474147;19449432;11829486;21906983;22412388;18067320;20531392;21525035;22002062;17881773 5194 B5MBY9;D3YTD3;G5E9N6;Q92968 AB022192;ABBA01075341;ABBA01075342;AC010733;AC074249;AF048755;AK315244;AMYH01010379;BC067090;CH471053;CN288682;DB102467;NG_008665;NM_002618;U71374 AAC39844;AAD05572;AAH67090;ADQ32886;BAA88907;BAG37668;EAX00017;EAX00018;EAX00019;EAX00020;EAX00021;NP_002609;Q92968 Hs.161377 1797984;2171500;2182045;5014051;5014740;5015621;5015861;5016478;5016596;5019070;5022200;5022322;5022578;5022651;5037552;7185938 D10S16;D11S2560;D11S2921;D11S3732;D17S610;D1S1423;D8S2278;D8S2279;G44334;GDB:434012;GDB:631802;L18426;PEX13_2120;RH68509;SHGC-34053 NALD;PBD11A;PBD11B;ZWS OTTHUMP00000159791;peroxin-13;peroxisomal membrane protein PEX13;peroxisome biogenesis factor 13 APPROVED protein-coding 8855 03475 202370;214100;601789;614883;614885 REVIEWED 1322796 PEX16 peroxisomal biogenesis factor 16 The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008] 11 11 p11.2 45887796 45896182 - 45931220 45939674 - 1580863;6480464;7240710 11890679;15713480;16717127;9837814;12223482;9922452;15813749;16341674;15489334;15146197;14709540;12477932;12096124;11390669;10704444;19114594;20647552;17207965;21768384;19479899;20301621;21145461;20531392;21525035 9409 E9PLS4;E9PMM3;E9PMS3;E9PP98;E9PQW0;E9PSC6;Q9Y5Y5 AB016531;ABBA01060757;ABBA01060758;AC068385;AF118240;AMYH01003532;BC000467;BC004356;BM746616;CH471064;CN285513;NG_008460;NM_004813;NM_057174 AAD22466;AAH00467;AAH04356;ADQ32359;BAA88826;EAW68022;EAW68023;EAW68024;NP_004804;NP_476515;Q9Y5Y5 Hs.100915 PBD8A;PBD8B OTTHUMP00000234739;OTTHUMP00000234740;OTTHUMP00000234741;peroxin 16;peroxin-16;peroxisomal biogenesis factor 16;peroxisomal membrane protein PEX16;peroxisome biogenesis factor 16 APPROVED protein-coding ENSG00000121680 8857 04526 603360;614876;614877 REVIEWED 1349650 PEX2 peroxisomal biogenesis factor 2 This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 8 8 q21.1 78055049 78075079 - 77892494 77913280 - 1580863;6480464;7240710 10837480;1546315;12751901;18391951;16344560;16169070;15542397;15489334;12477932;10891359;10528859;9765053;9452066;8858157;8020947;7600573;2454948;1750930;1426230;21658281;20546612;15342556;20379614;7681622;21102462;21832049;21392394;18987311;11590176;21903356;20881960;21525035;22002062 5828 E5RIW9;P28328 ABBA01041999;AC090810;AF133823;AF133824;AF133825;AF133826;AK312997;AMYH01018807;BC000661;BC005375;BC093043;BP193912;BU561273;BX093361;CH471068;DA210382;M85038;M86852;NG_008371;NM_000318;NM_001079867;NM_001172086;NM_001172087 AAA60141;AAC12785;AAF97687;AAH00661;AAH05375;AAH93043;ABZ92521;BAG35833;EAW87052;NP_000309;NP_001073336;NP_001165557;NP_001165558;P28328 Hs.437966 1657710;1675184;2131107;2141879;2146470;2217878;5016781;5037552 D8S2279;PXMP3_3423;RH46966;SHGC-67307;STS-H95082;STS-M85038;STS-R88992;WI-17451 PAF-1;PAF1;PBD5A;PBD5B;PMP3;PMP35;PXMP3;RNF72;ZWS3 35 kDa peroxisomal membrane protein;OTTHUMP00000226907;OTTHUMP00000226908;OTTHUMP00000226909;OTTHUMP00000226911;RING finger protein 72;peroxisomal biogenesis factor 2;peroxisomal membrane protein 3, 35kDa;peroxisome assembly factor 1;peroxisome assembly factor-1;peroxisome biogenesis factor 2 APPROVED protein-coding ENSG00000164751 9717 01367 170993;266510;614866;614867 REVIEWED 6481319 PEX5L-AS1 PEX5L antisense RNA 1 100874040 AC092939 APPROVED miscrna 41251 5144692 PEX5L-AS2 PEX5L antisense RNA 2 3 179616017 179639683 + 100505598 XR_108517;XR_133357 1709488 SHGC-81798 APPROVED miscrna 41252 68470 PEX14 peroxisomal biogenesis factor 14 This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008] 1 1 p36.22 10457590 10613402 + 10535003 10690815 + 1580863;6480464;7240710 11863372;12488033;15146459;16449325;19197237;18285423;17081983;16710414;16344560;15489334;14715663;14702039;12477932;12096124;11865044;10704444;10212238;10022913;9653144;10837480;16169070;19913121;20628086;20395239;10562279;19584060;20379614;21525035;21976670;21139048;21890473;21906983;18346465;22002062;23000965;10198260 5195 F5H4J2;K7EK59;O75381 AB017546;ABBA01035606;ABBA01035607;ABBA01035608;AF045186;AK002194;AK293684;AK298136;AK307416;AK307462;AK310726;AK313046;AL139423;AL354956;AL591403;AMYH01000246;AMYH01000247;BC006327;BC017848;BC054017;CH471130;CR450321;CR542083;DA494578;NG_008340;NM_004565 AAC39843;AAH06327;AAH17848;ABM83701;ABM86831;BAA36837;BAG35878;BAG51028;BAH11568;BAH12730;CAG29317;CAG46880;EAW71659;EAW71660;EAW71661;NP_004556;O75381 Hs.149983 1334812;1336210;1781436;2155138;2168248;2180473;7187007 D1S244;D1S2736;D1S401;SGC38258;SHGC-111497;SHGC-74203 MGC12767;NAPP2;PBD13A;Pex14p;dJ734G22.2 NF-E2 associated polypeptide 2;OTTHUMP00000001902;PTS1 receptor docking protein;PTS1 receptor-docking protein;peroxin-14;peroxisomal membrane anchor protein PEX14;peroxisomal membrane anchor protein Pex14p;peroxisomal membrane protein PEX14 APPROVED protein-coding ENSG00000142655 8856 03477 214100;601791;614887 REVIEWED 1315796 PEX19 peroxisomal biogenesis factor 19 This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 1 1 q23.2 158513226 158521555 - 160246599 160254941 - 1580863;6480464;7240710 10704444;9339377;19197237;18782765;18174172;16895967;16582619;16344115;16280322;15781447;15489334;15252024;15231748;16791427;15007061;14715663;14713233;14709540;14558883;12477932;12096124;11883941;11453642;11390669;11259404;10777694;10051604;9418908;8076834;16189514;20531392;16459329;16980692;17069900;19114594;19195843;20554521;20615514;20683989;21102411;12924628;15713480;12581788;22939629;11402059;19715730;21139048;21890473;21906983;21963094;21987572;19322201;11590176;21525035;21988832;23000965;23460677;12154087;22053931;22505724;22624858;16763195 5824 B7Z6I5;B7Z8B3;E9PPB4;E9PS71;H0YDY4;P40855;Q5QNY5 AB018541;AB062286;ABBA01016613;AK300368;AK303099;AL513282;AMYH01001452;AY434724;BC000496;BC064979;BT006879;CB993363;CD557913;CH471121;DC400252;DC405033;NG_008637;NM_001193644;NM_002857;NR_036492;NR_036493;X75535;Y09048 AAH00496;AAP35525;ABM82343;ABM85517;BAA76291;BAB93469;BAH13271;BAH13899;CAA53225;CAA70257;EAW52727;EAW52728;EAW52729;NP_001180573;NP_002848;P40855 Hs.517232 1775814;1793730;2137312;2154279;2217730 PEX19_3422;PMC26746P1;RH67926;RH70904;WI-19186 D1S2223E;FLJ55296;HK33;PBD12A;PMP1;PMPI;PXF;PXMP1 33 kDa housekeeping protein;OTTHUMP00000031848;housekeeping gene, 33kD;peroxin-19;peroxisomal biogenesis factor 19;peroxisomal farnesylated protein APPROVED protein-coding ENSG00000162735 9713 02610 214100;600279;614886 REVIEWED 1345397 PEX5L peroxisomal biogenesis factor 5-like 3 3 3 q26.33 177948972 178186430 - 181000744 181237211 - 179512746 179754841 - 737633;6480464 12477932 21504900;15489334;15302887;11463335;21490949;20379614;23077068;16344560;18346465;22550182 51555 B7Z219;C9IZ09;C9JB85;C9JUZ5;C9JZE2;E9PEC1 AB032592;AB032593;ABBA01058526;ABBA01058527;ABBA01058528;ABBA01058529;ABBA01058530;AC007687;AC090024;AC092939;AF088015;AJ245503;AK294227;AK294501;AK295349;AK295386;AK299633;AK303716;AK314283;AL831863;AMYH01013690;BC036183;CH471052;DA772743;DB175967;NM_001256750;NM_001256751;NM_001256752;NM_001256753;NM_001256754;NM_001256755;NM_001256756;NM_016559 AAH36183;BAA92878;BAA92879;BAG36942;BAH11705;BAH11791;BAH12041;BAH12054;BAH13081;BAH14028;CAC01120;EAW78380;EAW78381;EAW78382;NP_001243679;NP_001243680;NP_001243681;NP_001243682;NP_001243683;NP_001243684;NP_001243685;NP_057643;Q8IYB4 Hs.235331 1646373;1646375;1649649;1657932;1709488;1735326;1771440;1787514;2139459;2152020;2172208;2185652;2217732;5015861;5015961;5017170;5022322;5093200;5109281;7185938 A001U05;A009J18;D10S16;D11S2560;D15S1477;D1S1425;D3S2953E;G09565;G19649;G32579;L29953;PEX5R_3590;RH78237;SHGC-155438;SHGC-32469;SHGC-37366;SHGC-37398;SHGC-81798;WI-16592 DKFZp761J2017;PEX5R;PEX5RP;PXR2;PXR2B;TRIP8b OTTHUMP00000212019;OTTHUMP00000212020;OTTHUMP00000212021;OTTHUMP00000212022;OTTHUMP00000212023;OTTHUMP00000212024;OTTHUMP00000212025;OTTHUMP00000212026;OTTHUMP00000212027;PEX2-related protein;PEX5-like protein;PEX5-related protein;Pex5p-related protein;peroxin-5-related protein;peroxisome biogenesis factor 5-like;pex5Rp;tetratricopeptide repeat-containing Rab8b-interacting protein protein-coding ENSG00000114757 30024 11425 611058 VALIDATED 1350248 PEX26 peroxisomal biogenesis factor 26 This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010] 22 22 q11.21 16940705 16952207 + 18560686 18573797 + 6480464;7240710 15713480;16854980;15858711;19105186;16763195;16344560;16257970;16189514;15489334;15461802;15342556;14702039;12851857;12717447;12477932;10591208;15542397;21139048;19322201;20531392;23460677 55670 E9PRC5;F6UBB5;Q7Z2D7;Q7Z412 AB089678;AB103104;AB103105;AB103106;AB103107;AB103108;AB103109;AB103110;AB242826;AB242827;AB242828;AB242829;AB242830;ABBA01001421;ABBA01001422;AC016027;AI375247;AI636019;AK000065;AK000702;AMYH01012440;BC016280;BC047320;BG257217;BG910944;BP270408;CA433324;CB989626;CH471193;CR456362;DA164404;NG_008339;NM_001127649;NM_001199319;NM_017929 AAH16280;AAH47320;BAA90920;BAA91329;BAC66616;BAC78802;BAC78803;BAC78804;BAC78805;BAC78806;BAC78807;BAC78808;BAE72692;BAE72693;BAE72694;BAE72695;BAE72696;CAG30248;CAK54504;CAK54803;EAW57782;EAW57783;EAW57784;NP_001121121;NP_001186248;NP_060399;Q7Z412 Hs.517400 1667406;1699678;1796508;2116251;2120150;5016596;5022651;5037552 D11S2921;D22S967E;D8S2279;GDB:631802;PEX26_1033;RH103444;RH47117;SHGC-32781 FLJ20695;PBD7A;PBD7B;PEX26M1T;Pex26pM1T OTTHUMP00000195597;OTTHUMP00000195598;OTTHUMP00000195599;peroxin-26;peroxisome assembly protein 26;peroxisome biogenesis disorder, complementation group 8;peroxisome biogenesis disorder, complementation group A;peroxisome biogenesis factor 26 APPROVED protein-coding ENSG00000215193 22965 10559 202370;214100;266510;608666;614872;614873 REVIEWED 1353530 PF4V1 platelet factor 4 variant 1 4 4 4 q12-q21 72079178 72080363 + 74937877 74939062 + 74719013 74720198 + 1580863;6480464 18563170;15459074;12665801;2725510;1695112;20961394;12477932;20237496;20688960;20980681;21111666;22384011;15174051;23128233;23536183 5197 P10720 ABBA01022993;AC092438;AMYH01014302;BC130653;BC130657;CH471057;M26167;NM_002620 AAA60067;AAI30654;AAI30658;ADR82796;EAX05692;NP_002611;P10720 Hs.72933 5021958 Pf4 CXCL4L1;CXCL4V1;PF4-ALT;PF4A;SCYB4V1 C-X-C motif chemokine 4;OTTHUMP00000160680;PF4alt;PF4var1;platelet factor 4 variant;platelet factor 4, variant 1 (PF4-like) protein-coding 8862 01427 173461 PROVISIONAL 1352714 PEX3 peroxisomal biogenesis factor 3 The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] 6 6 q24.2 143813810 143852838 + 143771918 143811753 + 1580863;6480464;7240710 10704444;11883941;10958759;12924628;15007061;9657383;10430017;18174172;16895967;16344560;15489334;15342556;14713233;14702039;14574404;12477932;12096124;11390669;10968777;10848631;10679269;9922452;16189514;20554521;19479899;19715730;21102411;22939629;16280322;18029348;21139048;21890473;21906983;21987572;21525035;21963094;23000965;22053931;22624858 8504 P56589;Q7Z6V3 AB035307;ABBA01025747;ABBA01025748;AJ001625;AJ009866;AJ009867;AJ009868;AJ009869;AJ009870;AJ009871;AJ009872;AJ009873;AJ009874;AJ131389;AK023593;AK025644;AK300907;AL031320;AMYH01016721;AU137342;AY277600;BC014551;BC015506;BP377713;BX648803;CH471051;CR542062;DB576209;NG_008459;NM_003630 AAH14551;AAH15506;AAQ18039;BAA97993;BAG62543;CAA04879;CAA08904;CAA10362;CAG46859;EAW47866;NP_003621;P56589 Hs.592832;Hs.7277 1645362;1653585;1794558;1796510;2164672 AL021847;NIB250;PEX3_1035;PMC31832P1;RH66143 DKFZp686N14184;FLJ13531;PBD10A;TRG18 OTTHUMP00000017334;peroxin-3;peroxisomal assembly protein PEX3;peroxisomal biogenesis factor 3;transformation-related protein 18 APPROVED protein-coding 8858 04407 214100;603164;614882 REVIEWED 735657 PF4 platelet factor 4 This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. [provided by RefSeq, Mar 2012] 4 4 q12-q21 75065660 75066541 - 74846542 74847841 - 1580863;6480464 17265155;12384403;12466273;9531587;12041672;6945600;10666185;1688470;2140694;11685038;17244792;5789664;14718574;19470732;19397833;19258923;19245795;19201759;18797178;18648521;18632422;18539895;18369708;18000592;17998245;17914028;17827342;17703412;17700216;17675521;17636189;17381065;17220270;17218382;17090548;17077331;16881736;16806233;16317101;16304054;15994292;15964840;15815621;15788441;15728475;15591119;15531763;15489334;15459010;15304392;15291808;15265941;15187018;15034805;14652645;14592823;14575696;12878486;12782716;12732210;12609838;12586630;12477932;12223528;12193731;12097379;11986215;11830470;11468158;10464257;9558385;9395524;8613703;8511754;8031770;7835432;7547867;7524669;6445090;6187750;3622011;3098319;1695112;893407;803847;601757;267922;11083865;10233851;22740477;20961394;19911252;19913121;20628086;18577758;20050998;20979952;21041299;20539902;2834384;15622770;18240029;19625657;19750196;19773294;19805618;19910578;20104488;20182908;20503287;20185595;20688960;21129147;20626620;17192395;21111666;23224555;21693026;21508508;22088491;22318669;21931859;21088050;19416867;22402885;22645343;22577175;23352833;22916037;22682144;23128233;22763266;22235911 5196 P02776 ABBA01022994;AC097709;AF349466;AJ705588;AMYH01014303;BC093965;BC112093;CH471057;CR407677;GD143506;M25897;NG_032897;NM_002619 AAA60066;AAH93965;AAI12094;AAK29643;AAY41003;CAG28605;EAX05694;NP_002610;P02776 Hs.81564 1658472;2149824;5091253;5492495;5492939 SHGC-50926;SHGC-59547;SHGC-67990;UniSTS:481307;UniSTS:483297 CXCL4;MGC138298;PF-4;SCYB4 C-X-C motif chemokine 4;OTTHUMP00000160478;PF-4;chemokine (C-X-C motif) ligand 4;iroplact;oncostatin-A;platelet factor 4 APPROVED protein-coding 8861 01426 173460 REVIEWED 1316906 PEX5 peroxisomal biogenesis factor 5 The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] 12 12 p13.31 7234225 7255343 + 7341759 7371170 + 1580863;6480464;7240710 9653144;10837480;19197237;18712838;18359941;17428317;17399738;17317787;17157249;16403517;16344560;16314507;16189514;16169070;15911627;15866874;15489334;15328363;14652019;12578380;12477932;12456682;12411433;12096124;11865044;11546814;11438541;11415446;11101887;10567403;10562279;22529745;10462504;10212238;9820813;9418886;9398847;8991089;8858165;8586442;8125298;7790377;7719337;7706321;11829486;21900206;21976670;20178365;11336669;16012170;19208625;19584060;19632994;9668159;21375735;22863883;18029348;10514471;11931631;21139048;21890473;21906983;11060344;14709540;18346465;20301621;22371489;21044950;11463335;10022913;21525035;21963094;21988832;22002062;23382691 5830 B4DR50;B4E0T2;F5GXX3;F5GYB4;F5GZ41;F5H0L9;F5H205;F5H3X7;F5H432;F5H5C0;F5H637;H0YGT8;J3KPV0;P50542 ABBA01012198;AC018653;AI252784;AK225126;AK292256;AK299105;AK299534;AK301700;AK302742;AK303515;AK312317;AK316250;AMYH01004213;AMYH01004214;BC010621;CH471116;DA399480;NG_008448;NM_000319;NM_001131023;NM_001131024;NM_001131025;NM_001131026;U19721;U35407;X84899;Z48054 AAC50103;AAC50344;AAH10621;ABM82068;ABM85247;BAF84945;BAG61162;BAG61481;BAG63172;BAG63957;BAG64544;BAH14621;CAA59324;CAA88131;EAW88670;EAW88671;EAW88672;EAW88673;EAW88674;EAW88675;NP_000310;NP_001124495;NP_001124496;NP_001124497;NP_001124498;P50542 Hs.567327 1659743;1740147;1754421;2217734 D12S1576;PEX5_3424;SHGC-132459;SHGC-3221 FLJ50634;FLJ50721;FLJ51948;PBD2A;PBD2B;PTS1-BP;PTS1R;PXR1 OTTHUMP00000238192;OTTHUMP00000238193;OTTHUMP00000238194;OTTHUMP00000238195;OTTHUMP00000238353;OTTHUMP00000238354;OTTHUMP00000238356;PTS1 receptor;peroxin-5;peroxisomal C-terminal targeting signal import receptor;peroxisomal biogenesis factor 5;peroxisomal targeting signal 1 (SKL type) receptor;peroxisomal targeting signal 1 receptor;peroxisomal targeting signal import receptor;peroxisomal targeting signal receptor 1;peroxisome receptor 1 APPROVED protein-coding ENSG00000139197 9719 02684 202370;214100;214110;600414 REVIEWED 1318278 PEX7 peroxisomal biogenesis factor 7 This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008] 6 6 q23.3 137185416 137276752 + 137143702 137235072 + 1580863;6480464;7240710 9090381;9090383;12522768;9090382;18327563;15489334;15342556;14974078;14713215;12477932;12325024;11931631;11865044;11781871;11546814;10673331;10212238;10087260;10083738;9472033;9326939;19913121;20628086;20634891;20145307;17207965;20301447;10022913;21890473;22057399;22378669;22002062;20301527;23455924 5191 C0H5X6;O00628;Q5TDQ5;Q6FGN1 ABBA01025823;ABBA01025824;AF180814;AL121933;AL357082;AL365223;AL583681;AMYH01016698;AMYH01016699;BC006268;BC031606;BP246238;BQ011494;CH471051;CR542054;CR542076;NG_008462;NM_000288;U76560;U88871 AAB50556;AAC51238;AAF37350;AAH06268;AAH31606;ADQ32059;CAG46851;CAG46873;EAW47940;EAW47941;NP_000279;O00628 Hs.280932 1670172;1710072;1710208;1797986;2186042;5022578 AFM214zf6;D1S1423;PEX7_2618;RH70703;SHGC-82325;SHGC-83729 PBD9B;PTS2R;RCDP1;RD OTTHUMP00000017277;PTS2 receptor;peroxin-7;peroxisomal PTS2 receptor;peroxisomal biogenesis factor 7;peroxisomal targeting signal 2 receptor;peroxisome targeting signal 2 receptor APPROVED protein-coding ENSG00000112357 8860 03454 215100;266500;601757;614879 REVIEWED 734166 PEX6 peroxisomal biogenesis factor 6 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. [provided by RefSeq, Oct 2008] 6 6 p21.1 43039724 43054866 - 42931611 42946981 - 1580863;729462;6480464;7240710 7493019 19105186;16344560;16257970;15489334;15231748;14651998;12717447;12477932;11873320;11355018;10408779;9671729;9588209;8940266;8125298;8670792;11439091;16854980;19433277;19877282;22894767;21778671;20301621;21963094;21988832;22797925 5190 Q13608;Q5T8W1;Q8WYQ0 AB051076;AB051077;AB051078;AB208906;ABBA01050700;ABBA01050701;ABBA01050702;AF108098;AK225704;AK314237;AL158815;AMYH01016310;BC033487;BC048331;BQ773648;CH471081;D83703;DA462214;DA755886;NG_008370;NM_000287;U56602 AAC50655;AAF62564;AAH48331;BAA12069;BAB83046;BAB83047;BAB83048;BAD92143;BAG36906;EAX04125;EAX04126;EAX04127;EAX04128;EAX04129;NP_000278;Q13608 Hs.656425 1666684;1739675;2136945;2148480;2178542;2180222 D6S1532E;RH46734;SHGC-34360;STS-D20352;STS-U56602;WI-17066 PAF-2;PAF2;PBD4A;PDB4B;PXAAA1 OTTHUMP00000016413;peroxin-6;peroxisomal AAA-type ATPase 1;peroxisomal-type ATPase 1;peroxisome assembly factor 2;peroxisome biogenesis factor 6 APPROVED protein-coding ENSG00000124587 8859 03293 601498;614862;614863 REVIEWED 1312648 PFAS phosphoribosylformylglycinamidine synthase Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8181466 8202639 + 8093362 8114528 + 8152596 8173809 + 1580863;5135485;5135276;6480464;6907045 3043317;6722784 8110788;10548741;17353931;17081983;12477932;9328467;9205841;1574589;19615732;20379614;20562859;22863883;22939629;22586326;21139048;21890473;21906983;21963094;21987572;21252943;22053931;22505724;22797925 5198 A8K9T9;F5GWT9;H0YGH1;J3KT98;J3KTL4;J3KTQ5;J3QL39;J3QSG0;J3QSH6;O15067;Q6P4B4 AB002359;ABBA01054906;ABBA01054907;AC135178;AK292402;AK292804;AK295895;AL044326;AMYH01008089;AMYH01008090;BC006522;BC009318;BC031807;BC063538;BC146768;BC167158;CH471108;NM_012393 AAH06522;AAH63538;AAI46769;AAI67158;BAA20816;BAF85091;BAF85493;BAG58688;EAW90067;EAW90068;EAW90069;NP_036525;O15067 Hs.573976 2107491;5015959;5022578 D10S2448;D1S1423;PFAS__6978 FGAMS;FGARAT;KIAA0361;PURL FGAM synthase;FGAR amidotransferase;OTTHUMP00000135330;formylglycinamide ribotide amidotransferase;formylglycinamide ribotide synthetase;phosphoribosylformylglycinamidine synthase APPROVED protein-coding ENSG00000178921 8863 09072 602133 REVIEWED 1349968 PFDN2 prefoldin subunit 2 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] 1 1 1 q23.3 134137521 134155028 - 159336970 159354490 - 161070346 161087866 - 1580863;6480464 9630229;15489334;14743216;14634002;12477932;11042152;10931946;10542082;10209023;10051400;14615539;17353931;17893145;22939629;17643375;19450687;19615732;22863883;19156129;17936702;20360068;21139048;21890473;21906983;19322201;22053931;22797925 5202 B1AQP2;Q9UHV9 ABBA01016599;AF117237;AF151065;AF165883;AK024531;AK315736;AL591806;AMYH01001457;BC012464;BC047042;BI597083;CH471121;NM_012394 AAD47084;AAF17218;AAF36151;AAH12464;AAH47042;BAG38091;EAW52658;NP_036526;Q9UHV9 Hs.492516 1736590;1793348;1848987;1855827;2157923;5092620 A005B35;D1S2071E;D1S3274;G32219;PMC21147P2;WI-15774 PFD2 OTTHUMP00000029707;prefoldin 2;prefoldin subunit 2 APPROVED protein-coding ENSG00000143256 8867 09658 613466 REVIEWED 1347549 PFDN4 prefoldin subunit 4 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] 20 20 20 q13.2 49529139 49541129 + 52257909 52269899 + 52824502 52836492 + 1580863;6480464 22863883;9630229;15489334;14634002;12477932;12456645;11884745;11780052;11381030;10542082;10209023;8744932;14615539;20552408;19615732;22939629;17936702;20360068;21139048;21906983;23042114;23251661;23349634 5203 E9PQY2;Q9NQP4 ABBA01052870;AK312059;AL133335;AMYH01011996;BC010953;CH471077;CN482830;NM_002623;U41816 AAB17063;AAH10953;BAG34995;EAW75572;NP_002614;Q9NQP4 Hs.91161 1644900;2131595;5126102 RH47160;RH47163;SHGC-2608 C1;PFD4 OTTHUMP00000031316;OTTHUMP00000165945;prefoldin 4;prefoldin subunit 4;protein C-1 APPROVED protein-coding ENSG00000101132 8868 05358 604898 REVIEWED 1313729 PFDN1 prefoldin subunit 1 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008] 5 5 q31 139604819 139662873 - 139624635 139682689 - 1580863;6480464 8744932;18029348;16415341;16169070;15489334;14702039;14634002;14615539;12748950;12477932;12456645;11884745;11535601;11521196;10542082;10209023;10191080;9630229;8125298;17353931;19615732;22863883;22939629;20360068;21139048;21900206;22505724 5201 D6RGG5;E5RGS4;O60925 AA910992;ABBA01026434;ABBA01026435;ABBA01026436;AC011380;AK093558;AK223394;AK315353;AMYH01015655;AMYH01015656;BC003620;BC006202;BC011869;BG707314;CH471062;NM_002622;Y17392 AAH03620;AAH06202;AAH11869;BAD97114;BAG37749;CAA76759;EAW62070;EAW62071;EAW62072;NP_002613;O60925 Hs.483564 1709480;1709482;1744355;1854255;2119074 GDB:451806;RH10742;SHGC-81793;SHGC-81794;WI-20399 PDF;PFD1 OTTHUMP00000159560;prefoldin 1;prefoldin subunit 1 APPROVED protein-coding ENSG00000113068 8866 05357 604897 REVIEWED 732809 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] X X p11.21 54976315 55037236 - 54959590 55020511 - 1580863;1300048;2302793;2302681;6480464;6907045 15170386;9705027 2837207;12379646;12721358;19474452;16344560;15772651;15489334;12477932;9119406;2540168;2163524;11522786;7574501;15896703;21832049;10222032;18624398 5207 B4DUN5;I1Z9G4;P16118;Q4VBA9 ABBA01069570;ABBA01069571;ABBA01069572;ABBA01069573;ABBA01069574;ABBA01069575;ABBA01069576;AK300724;AK314089;AL020991;AL049732;AL703826;AMYH01022432;BC096077;BC096078;BC096079;CH471154;DB187700;JQ425694;JQ425695;M19938;NG_013254;NM_001271804;NM_001271805;NM_002625;NR_073450;X52638 AAA35818;AAH96077;AAH96078;AAH96079;AFJ19239;AFJ19240;BAG36785;BAG62397;CAA36861;EAW93207;NP_001258733;NP_001258734;NP_002616;P16118 Hs.444304 1683791;1760139;2109639;2126643;2133104;2167163 AL023939;DXS8282;PFKFB1_8533;RH41856;SHGC-132037;SHGC-58281 F6PK;HL2K;MGC116715;MGC116717;PFRX 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1;6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1;6PF-2-K/Fru-2,6-P2ASE liver isozyme;6PF-2-K/Fru-2,6-P2ase 1;OTTHUMP00000023391;PFK/FBPase 1;fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase APPROVED protein-coding ENSG00000158571 8872 02411 311790 REVIEWED 1322898 PFDN5 prefoldin subunit 5 This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 12 12 q12 51975502 51979501 + 53689235 53693234 + 1580863;6480464 9792694;16130169;18029348;18398700;18281035;16173081;15489334;14702039;12477932;11844794;11567024;10542082;10209023;9630229;14634002;11535601;16919237;17728244;19615732;20098747;11585818;12196529;22863883;22939629;19156129;17786314;20360068;21139048;21572988;21890473;21906983;18654987;22053931;22505724;22844532 5204 F8VNW6;F8VQZ2;H3BMQ1;H3BPF6;Q99471 AB055802;AB055803;AB055804;AB055805;ABBA01008324;ABBA01008325;AC073611;AK024094;AK292623;AMYH01004479;BC003373;BC062671;BE392248;BT007195;CH471054;NG_029695;NM_002624;NM_145897 AAH62671;AAP35859;BAB32643;BAB32644;BAB32645;BAB32646;BAF85312;EAW96683;EAW96684;EAW96685;EAW96686;NP_002615;NP_665904;Q99471 Hs.655327 1659302;5016700;5024039 D16S325;RH79802;SHGC-31943 MGC5329;MGC71907;MM-1;MM1;PFD5 C-Myc-binding protein Mm-1;OTTHUMP00000241837;OTTHUMP00000241838;OTTHUMP00000241841;c-myc binding protein;myc modulator 1;myc modulator-1;prefoldin 5;prefoldin subunit 5 APPROVED protein-coding ENSG00000123349 8869 604899 REVIEWED 1351314 PFDN6 prefoldin subunit 6 PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010] 6 6 6 p21.3 34811736 34813069 + 33365356 33366689 + 33257374 33258711 + 1300397;1580863;6480464 9545376 9630229;17257322;15489334;14634002;12477932;9521053;8889548;17353931;17643375;19450687;19615732;19851445;10209023;16712791;16341674;22863883;22939629;19156129;20360068;16344560;21139048;21890473;22505724;22632162 10471 A2AB88;O15212;Q5STK2 ABBA01038140;AK312150;AL662820;AL662827;AMYH01016243;BC039033;BC059783;BE794658;BM686351;BM745352;BM792413;BM818422;BM834357;BU734446;BX000343;CB124036;CH471081;CR759786;CR759817;DA256816;NM_001185181;NM_001265595;NM_001265596;NM_014260;Z97184 AAH39033;AAH59783;BAG35084;CAB09993;CAC88187;EAX03705;EAX03706;EAX03707;NP_001172110;NP_001252524;NP_001252525;NP_055075;O15212 Hs.446374 H2-KE2;HKE2;KE-2;MGC70744;PFD6 KE2 protein;OTTHUMP00000029360;OTTHUMP00000029363;OTTHUMP00000178657;OTTHUMP00000178658;prefoldin 6;prefoldin subunit 6;protein Ke2 APPROVED protein-coding ENSG00000204220 4926 16135 605660 VALIDATED 1353203 PFKX phosphofructokinase, polypeptide X 5215 8879 69042 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q31 205293243 205320991 + 207226620 207254368 + 1580863;1300048;2302793;6480464;6907045 15170386 9464277;9652401;18039179;16710414;16025159;15925437;15489334;15324660;14702039;12853467;12477932;12065600;11522786;11374908;11129574;11245921;7904197;1655632;1322130;22241065;19423540;20406964;20438785;7574501;17979178;21963094;23000965;23457334;22939629;20958264;21092265;16196087;8387495;11069105;21139048 5208 B0FLL2;B4DI16;B4DY91;O60825 AB044805;ABBA01048247;AF470623;AJ005577;AJ005578;AK125661;AK292883;AK295367;AK302315;AL445493;AMYH01001680;BC069350;BC069385;BC069583;BC069586;BC069600;BC075075;BC075076;BC112103;BC112105;BX510096;CH471100;CR749442;EU334168;NM_001018053;NM_006212 AAH69350;AAH69385;AAH69583;AAH69586;AAH69600;AAH75075;AAH75076;AAI12104;AAI12106;AAL99386;ABY59650;BAB19681;BAF85572;BAG58328;BAG63653;CAA06605;CAA06606;CAH18280;EAW93507;EAW93508;NP_001018063;NP_006203;O60825 Hs.282702 1335596;1674708;1677186;1689971;2108355;2113136;2138185;2157420;2161562;2170904 AL009437;AL009762;D1S2727;D1S3705;G31466;PFKFB2_8534;RH91908;RH92892;SHGC-76262;SHGC-76270 DKFZp781D2217;MGC138308;MGC138310;PFK-2/FBPase-2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2;6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2;6PF-2-K/Fru-2,6-P2ASE heart-type isozyme;6PF-2-K/Fru-2,6-P2ase 2;OTTHUMP00000034285;OTTHUMP00000034286;PFK/FBPase 2;PFKFB, cardiac;fructose-2,6-bisphosphatase, cardiac isozyme APPROVED protein-coding ENSG00000123836 8873 01383 171835 REVIEWED 5491160 PFN1P1 profilin 1 pseudogene 1 1 1 q24.3 169905943 169906956 - 171639417 171640228 - 730138 ABBA01027925;AMYH01001496;NG_005764;Z98751 pseudo 42989 INFERRED 5491163 PFN1P10 profilin 1 pseudogene 10 1 1 p36.12 21658404 21659403 - 21785917 21786695 - 767853 ABBA01059817;AL592309;AMYH01000336;NG_005768 pseudo 42985 INFERRED 6481546 PFN1P11 profilin 1 pseudogene 11 10 104604899 104605230 - 100873784 ABBA01063132;AL358790;AMYH01003020;NG_032540 pseudo 42994 INFERRED 5491162 PFN1P12 profilin 1 pseudogene 12 1 1 q21.2 147381150 147382152 + 149114649 149115428 + 647569 ABBA01010827;AC239800;AL356957;AMYH01001371;NG_005763 pseudo 42995 INFERRED 1344643 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 3 3 3 p22-p21 48510977 48550079 - 48530121 48569231 - 48555117 48594227 - 1580863;2302793;6480464;6907045 15170386 10095107;17143338;15925437;15642344;15489334;15474002;12477932;8830046;7574501;22811469;21640852;21900206;22056879;21396842;22892400;23128233 5210 B7Z5C3;B7Z5L3;C9JJ23;C9JX77;C9K0D8;F8WC12;F8WDY1;Q16877;Q5XLC2;Q64EX5;Q66S35 ABBA01024644;AC134772;AF108765;AK298732;AK299097;AK312623;AMYH01013151;AY707863;AY714243;AY756062;AY756063;AY756064;AY786551;BC010269;CH471055;D49818;FB342977;FB711100;HI574332;NM_004567 AAD09427;AAH10269;AAU11326;AAU14998;AAV28717;AAV28718;AAV28719;AAV65753;ABM82561;ABM85751;BAA18921;BAG35509;BAH12859;BAH12949;CAR81489;CAS91505;CBX47655;EAW64890;NP_004558;Q16877 Hs.476217 1679960;1690077;1735204;2110647 D3S2863E;PFKFB4_8536;RH80762;RH94072 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4;6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-4;6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4;6PF-2-K/Fru-2,6-P2ase 4;6PF-2-K/Fru-2,6-P2ase testis-type isozyme;OTTHUMP00000164807;OTTHUMP00000210154;OTTHUMP00000210157;PFK/FBPase 4;bifunctional enzyme with kinase and biphosphatase activities protein-coding ENSG00000114268 8875 05613 605320 PROVISIONAL 5491055 PFN1P3 profilin 1 pseudogene 3 1 1 q21.2 146715719 146716521 + 148349119 148349897 + 11948409 200025 ABBA01011508;AC245014;AMYH01001373;BX546486;NG_006513 COAS-3;COAS3 pseudo 42987 INFERRED 5688832 PFN1P4 profilin 1 pseudogene 4 1 q21.1 147601643 147602421 + 767851 AC239803;AMYH01001373;BX842679;NG_005766 pseudo 42992 INFERRED 5491161 PFN1P5 profilin 1 pseudogene 5 1 1 q21.1 144771136 144772041 + 146059806 146060584 + 767852 AL049742;NG_005767 pseudo 42990 INFERRED 5491164 PFN1P6 profilin 1 pseudogene 6 1 1 q21.2 147002970 147003875 - 148736446 148737224 - 645126 AL592492;NG_005762 pseudo 42988 INFERRED 5491159 PFN1P7 profilin 1 pseudogene 7 1 1 q21.1 146840934 146841936 - 148574410 148575188 - 767854 AC246785;AL954711;AMYH01001371;NG_005769 pseudo 42993 INFERRED 6481594 PFN1P8 profilin 1 pseudogene 8 1 146392454 146392861 - 100873744 AL359176;AMYH01001211;NG_032539 pseudo 42986 INFERRED 5688831 PFN1P9 profilin 1 pseudogene 9 1 p12 120395828 120396611 + 767850 ABBA01068518;AL359752;AMYH01000980;NG_005765 pseudo 42991 INFERRED 735560 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 10 10 p15.1 6284901 6317501 + 6186843 6277508 + 1580863;2302793;6480464;6484113;6907045 15170386 9828130;15896703;8830046;16316985;18039179;17499765;17143338;16698023;16344560;16311927;16306349;16115917;15489334;15466858;14702039;12963966;12935880;12477932;12384552;11245987;11245921;10673355;10508479;10077634;10072580;9276680;9146922;9092801;17353931;16385451;19473963;19490427;20080744;7574501;20453422;21402913;23084401;23000965;23548149;17620599;21987444;21139048;21890473;21906983;21963094;20639865;22106309;21860432;22275052;19322201;20921411;22053931;22505724 5209 B7Z955;F2Z2I2;F5H5L1;H0Y483;H0YDV0;Q16875;Q5VX18;Q5VX20;Q5W015;Q9BQU1;Q9H178 AB012229;AB033994;ABBA01034766;ABBA01034767;ABBA01034768;ABBA01034769;AF041831;AF056320;AF109735;AF110958;AI633567;AJ227868;AJ272438;AJ272439;AJ272440;AJ295747;AK094645;AK131307;AK291263;AK303039;AK304450;AL157395;AL359960;AL583908;AMYH01002002;AMYH01002003;AMYH01002004;BC037258;BC040482;BC042656;CH471072;D49817;DA315586;DB068734;DC323583;L77662;NM_001145443;NM_004566 AAB99795;AAC62000;AAD08818;AAD23989;AAH40482;AAL40083;ADR82745;BAA08624;BAA25289;BAA89351;BAD18473;BAF83952;BAH13886;BAH14191;CAC20460;CAC34792;CAC34793;CAC34794;EAW86397;EAW86398;EAW86399;EAW86400;EAW86401;NP_001138915;NP_004557;Q16875 Hs.195471 1679790;1686240;1730982;1735988;1775782;1857971;2110645;2122483;2125113;2184395 AF021131;D10S1277E;D10S289;PFKFB3_8535;RH45944;RH65151;RH68277;RH79912;SHGC-33937;WI-16344 FLJ37326;IPFK2;PFK2 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase;6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase;6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3;6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3;6PF-2-K/Fru-2,6-P2ase 3;6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme;OTTHUMP00000019039;OTTHUMP00000019040;OTTHUMP00000019041;OTTHUMP00000019044;OTTHUMP00000019045;OTTHUMP00000019046;OTTHUMP00000019047;OTTHUMP00000019048;OTTHUMP00000019050;OTTHUMP00000019052;PFK/FBPase 3;fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase;iPFK-2;inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase;renal carcinoma antigen NY-REN-56 protein-coding ENSG00000170525 8874 05612 605319 VALIDATED 1602136 PFN1P2 profilin 1 pseudogene 2 1 1 q21 143323379 143324084 - 144610815 144612727 - 12477932;11948409 767846 AC239804;AF345651;AL592284;AMYH01001373;BC137262;NR_003242 AAI37263;AAL83747 Hs.657186 C1orf152;COAS3 APPROVED pseudo 24298 608609 VALIDATED 68621 PFKM phosphofructokinase, muscle Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 12 12 q13.3 46802817 46826154 + 48499656 48540187 + 1599108;1580863;1300048;2302736;6480464;6907045;7240710 1533013;2931076 6444721;8780720;12649290;6444532;18029348;19165527;17544406;16344560;15489334;15020257;14760703;12477932;12432079;10187848;9443500;9389749;9252390;8889589;8661033;8444874;7825568;7550225;7513946;7479776;6459054;2822475;2526045;2526044;2140573;2140567;1833270;125160;21145461;20800603;17549794;156693;18996102;19019082;20379614;8889548;20483646;20602615;19394292;21124851;22863883;22995305;21573193;22939629;22133655;21890473;21963094;21988832;23088713;22474333;18624398;18781797;20849852;21139048;21906983 5213 F8VNX2;F8VNZ1;F8VP00;F8VSF5;F8VSF7;F8VSL1;F8VTQ3;F8VTT5;F8VUB8;F8VVE3;F8VW30;F8VX13;F8VYK8;F8VZ53;F8VZI0;F8VZQ1;F8W1J8;H0YHB8;H0YIS9;P08237 ABBA01031475;AC004801;AC074029;AK126020;AK126229;AK303681;AK308185;AK312284;AMYH01004429;BC000534;BC007798;BC012799;BC013298;BC021203;BU683561;BX537703;CH471111;CR541698;D21861;DA525437;DA560355;DA761651;DA795106;DB081387;J05533;M24925;M26066;M59719;M59720;M59721;M59722;M59723;M59724;M59725;M59726;M59727;M59728;M59729;M59730;M59731;M59732;M59733;M59734;M59735;M59736;M59737;M59738;M59739;M59740;M59741;NG_016199;NM_000289;NM_001166686;NM_001166687;NM_001166688;U24183;Y00698 AAA36436;AAA60068;AAA79220;AAA82938;AAA91985;AAH00534;AAH07798;AAH12799;AAH13298;AAH21203;BAC86498;BAG64674;CAA68692;CAD97816;CAG46499;EAW57973;EAW57974;EAW57975;NP_000280;NP_001160158;NP_001160159;NP_001160160;P08237 Hs.75160 1668434;1736210;1743519;1744953;2109641;2116880;2125691;2168690;2173611;2179424;5015619;5015915;5015959;5015961;5022322;5037552;5117392;5117398;5120786;5120788;5120790;5120792;5120794;5491981 D10S2448;D11S2560;D11S3114;D12S1157E;D12S2022;D15S1477;D8S2279;GDB:342275;GDB:375070;GDB:375075;GDB:375078;GDB:375081;GDB:375084;GDB:375087;GDB:542985;GDB:542997;GDB:581748;PFKM_8537;PFKM_intron19;RH11170;RH17704;RH17705;RH71215;SHGC-5984 GSD7;MGC8699;PFK-1;PFK-M;PFK1;PFKA;PFKX 6-phosphofructo-1-kinase;6-phosphofructokinase, muscle type;OTTHUMP00000242423;OTTHUMP00000242429;OTTHUMP00000242435;OTTHUMP00000242437;PFK-A;phosphofructo-1-kinase isozyme A;phosphofructokinase 1;phosphofructokinase, polypeptide X;phosphofructokinase-M;phosphohexokinase APPROVED protein-coding ENSG00000152556 8877 01988 232800;610681 REVIEWED 731398 PFKL phosphofructokinase, liver Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate. Separate genes encode a muscle subunit (M) and a liver subunit (L). PFK from muscle is a homotetramer of M subunits, PFK from liver is a homotetramer of L-subunits, while PFK from platelets can be composed of any tetrameric combination of M and L subunits. The protein encoded by this gene represents the L subunit. Alternate splicing results in two transcript variants, one of which is a candidate for nonsense-mediated decay (NMD). [provided by RefSeq, Aug 2008] 21 21 q22.3 44544358 44571689 + 45719925 45747261 + 1580863;1300048;2301230;2301239;2302851;2302736;2302790;6480464;6484113;6907045 14342527;6458283;4353083;2931076;4273555 6444532;6444721;8780720;6227635;16780588;18996102;18254975;16713569;16189514;15592455;15489334;15231748;14702039;12840015;12665801;12477932;10830953;8931492;6455664;6445244;2948503;2944814;2533063;2139864;1565613;1446073;156693;16169070;21505073;17643375;19615732;20602615;20562859;20811636;21832049;22863883;22939629;15161933;21139048;21906983;22145905;22923583;22174317;22505724 5211 F8WEU2;P17858;Q7L2M7 AB209127;ABBA01074160;ABBA01074161;ABBA01074162;ABBA01074163;AK054735;AK091488;AK098228;AK303605;AK308437;AMYH01012290;AMYH01012291;AMYH01012292;AP001060;AP001061;AP001062;AP001754;BC004920;BC006422;BC007536;BC008964;BC009919;BC018295;BG390460;BQ067366;BU177678;BX351711;BX537446;BX641051;CA449348;CB997055;CH471079;NM_002626;NR_024108;X15573;X16911;X16912;X16913;X16914;X16915;X16916;X16917;X16918;X16919;X16920;X16921;X16922;X16923;X16924;X16925;X16926;X16927;X16928;X16929;X16930 AAH04920;AAH06422;AAH07536;AAH08964;AAH09919;AAH18295;ABM84361;ABM87791;BAA95561;BAD92364;BAG51419;BAG64620;CAA33597;CAB46744;CAD97688;CAE46026;EAX09439;EAX09440;NP_002617;P17858 Hs.255093 1741775;1778592;1793952;2132622;2167679;5015961;5037552;5126624 D15S1477;D8S2279;G34632;GDB:179876;GDB:185161;PMC310701P3;RH47822;STS-X15573 DKFZp686G1648;DKFZp686L2097;FLJ30173;FLJ40909;PFK-B 6-phosphofructokinase, liver type;OTTHUMP00000109514;liver-type 1-phosphofructokinase;phosphofructo-1-kinase isozyme B;phosphofructokinase 1;phosphofructokinase, liver, b-type;phosphohexokinase APPROVED protein-coding ENSG00000141959 8876 01385 171860 REVIEWED 733332 PFN1 profilin 1 This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012] 17 17 p13.3 4789692 4792570 - 4848945 4852381 - 1580863;2317552;6480464;6907045 16215274 22479341;7566098;16341674;19115233;19035654;19028693;18573880;18417352;18384219;18223293;17940506;17914456;17051635;16968742;16916647;16569658;16169070;15952740;15615774;15592455;15556561;15489334;15469846;14767055;14592989;12729790;12621583;12477932;12419186;12224553;12213210;12095630;12052260;11751973;10958683;10922060;10882740;10445846;10411937;10404225;9843499;9822597;9801792;9473484;9360613;8413665;8268157;7821789;7758455;3356709;3342873;1968707;9694849;10867004;21145461;21319273;22415225;22159600;21091798;19593789;19607826;19710142;20143334;20400688;20717968;20736409;21049052;21115820;22939629;22990118;23106098;19135240;21800051;19738201;19805454;21963094;22304920;22623428;23000965;23062600;22801503;15161933;18781797;20360068;20639865;20972266;21139048;21890473;21906983;21949785;21987572;16009940;19322201;19338310;23326535;23430586;21853274;22053931;22505724;20301623 5216 I3L3D5;K7EJ44;P07737 AA358044;ABBA01054784;AC004771;AC109333;AK312168;AL525538;AMYH01008043;AMYH01008044;BC002475;BC006768;BC013439;BC015164;BC057828;BM850671;BT007001;CH471108;CR407670;D28377;GU727630;J03191;NG_012063;NG_032945;NM_005022 AAA36486;AAH02475;AAH06768;AAH13439;AAH15164;AAH57828;AAP35647;ABM82026;ABM85208;ADU87632;BAA05743;BAG35102;CAG28598;EAW90381;EAW90382;EAW90383;EAW90384;NP_005013;P07737 Hs.494691 1736945;1742027 D17S1578;GDB:189976 ALS18 OTTHUMP00000125244;epididymis tissue protein Li 184a;profilin;profilin I;profilin-1 APPROVED protein-coding ENSG00000108518 8881 01452 176610;614808 REVIEWED 1604471 PFN3 profilin 3 The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008] 5 5 5 q35.3 171673817 171674346 + 176759770 176760183 - 176827108 176827637 - 6480464;6907045 19419568;15372022;12477932;11867228;20383146;22396660;22916037 345456 P60673 AA909745;ABBA01033457;AC145098;AMYH01015874;BC132952;BC132954;CH471195;NG_016223;NM_001029886 AAI32953;AAI32955;EAW85006;NP_001025057;P60673 Hs.130196 1665717;2147603;2182319 RH67849;RH70295;STS-W95094 OTTHUMP00000223847;profilin III;profilin-3 APPROVED protein-coding ENSG00000196570 18627 612812 REVIEWED 1351408 PGA@ pepsinogen A gene cluster 5219 8884 731015 PFKP phosphofructokinase, platelet The PFKP gene encodes the platelet isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. The PFKP gene, which maps to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM; MIM 610681) and liver (PFKL; MIM 171860) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22, respectively. Vora (1981) [PubMed 6451249] determined that full tetrameric phophofructokinase enzyme expressed in platelets can be composed of subunits P4, P3L, and P2L2.[supplied by OMIM, Mar 2008] 10 10 p15.3-p15.2 3099752 3168996 + 3109712 3178997 + 1580863;2302736;2302804;6480464;6907045 2931076;8255543 1834056;16385451;18682847;18996102;19615732;21145461;17353931;6444721;17658951;17544406;16964243;15716112;15592455;15489334;15302935;14760703;14702039;12963966;12477932;12438565;8889548;8117307;6451249;2822475;1533608;156693;156568;20602615;20712903;20562859;22863883;22939629;16335966;21586797;22586326;18781797;21139048;21890473;21906983;18685789;20473970;21044950;19738201;19805454;21963094;21988832;22623428;22993228;23000965;21853274;22174317;22505724 5214 B1APP6;B1APP8;H0Y3Y3;H0Y757;Q01813;Q5VSR5;Q5VSR6 AA622586;ABBA01035230;ABBA01035231;AK092597;AK097692;AK126153;AK128373;AK129843;AK130767;AK291841;AK308003;AK308226;AK309692;AL451164;AL521453;AL731533;AMYH01001986;AMYH01001987;AMYH01001988;AMYH01001989;BC002536;BC021698;BC029138;BC043156;BU737488;CD365858;CH471072;D21863;D25328;M64784;NM_001242339;NM_002627 AAA36435;AAH02536;AAH21698;AAH29138;AAH43156;ABM86073;ABW03770;BAA04998;BAA21891;BAF84530;BAG52577;BAG53515;EAW86495;EAW86496;EAW86497;NP_001229268;NP_002618;Q01813 Hs.26010 1334943;1699090;1725583;1742213;1757921;1792776;1794656;2108357;2136126;5014053 D10S1218;D1S3693;G62086;GDB:193844;PFKP_8538;PMC164283P1;PMC343947P1;RH103121;RH15729;SHGC-146866 FLJ40226;FLJ44165;PFK-C;PFKF 6-phosphofructokinase type C;6-phosphofructokinase, platelet type;OTTHUMP00000018966;OTTHUMP00000018967;Phosphofructokinase, platelet type;phosphofructo-1-kinase isozyme C;phosphofructokinase 1;phosphohexokinase APPROVED protein-coding ENSG00000067057 8878 01384 171840 VALIDATED 5144726 PGAM1P1 phosphoglycerate mutase 1 pseudogene 1 5 5 5 q11.2 54401615 54402168 + 57492785 57534526 + 57457025 57457578 + 100130514 ABBA01015783;AC008786;AMYH01015100;NG_021883 pseudo 42448 INFERRED 5144714 PGAM1P10 phosphoglycerate mutase 1 pseudogene 10 6 6 74157955 74158712 + 73764820 73765577 + 100420633 ABBA01040302;AL360236;AMYH01016423;NG_025955 1805422;1920878;1920880;1920882;1920884;1920886;1920888;1920890;1920892;1920894;1920896;1920898;1920900;1920902;1920904;1920906 ECD03658;REN31260;REN31261;REN31262;REN31263;REN31264;REN31265;REN31266;REN31267;REN31268;REN31269;REN31270;REN31271;REN31272;REN31273;REN31274 pseudo 42457 INFERRED 5144715 PGAM1P11 phosphoglycerate mutase 1 pseudogene 11 1 1 9230164 9231145 + 10118731 10119712 + 100420660 ABBA01035584;AL590639;AMYH01000242;NG_027065 pseudo 42464 INFERRED 5144732 PGAM1P12 phosphoglycerate mutase 1 pseudogene 12 15 15 15 q26.2 73400999 73401743 - 94785800 94790686 - 96984799 96985543 - 390643 ABBA01032421;AC087477;AMYH01006952;NG_022119 pseudo 42459 INFERRED 5144724 PGAM1P13 phosphoglycerate mutase 1 pseudogene 13 8 8 8 q23.1 104846100 104846853 + 108728684 108729440 + 108659508 108660261 + 100129815 ABBA01037697;AC025519;AMYH01018955;NG_022429 pseudo 42461 INFERRED 5144733 PGAM1P2 phosphoglycerate mutase 1 pseudogene 2 9 9 9 p13.3 35876785 35877509 - 35933090 35933931 - 35943207 35943931 - 392310 ABBA01023128;AL135841;AMYH01019347;NG_021612 pseudo 42449 INFERRED 734176 PFN2 profilin 2 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008] 3 3 q25.1 151165381 151171431 - 149682691 149688741 - 1580863;6480464;6907045 15383276;16169070;18573880;17382517;15615774;15489334;14517206;12677009;12477932;12224553;11027290;10945997;10882740;10600384;9463375;8975700;8641130;8365484;7758455;7737110;3356709;1602151;12391155;10958683;22939629;21725608;21139048;21890473;21906983;21987572;21628590;22505724;9822597 5217 C9J0J7;C9J2N0;C9J5V8;C9J712;C9JQ45;F2Z3G0;G5E9Q6;P35080 ABBA01058936;AC117395;AF228738;AK297915;AK307227;AK311780;AK311782;AL096719;AMYH01013572;BC002964;BC018049;BC043646;BC095444;BX463350;CH471052;L10678;NG_029114;NM_002628;NM_053024 AAA03022;AAG24949;AAH18049;AAH43646;AAH95444;ACE87020;ACE87707;BAG34723;BAG34725;BAG60233;EAW78850;EAW78851;EAW78852;EAW78853;EAW78854;EAW78855;EAW78856;NP_002619;NP_444252;P35080 Hs.91747 1649419;1686050;1733414;2162435 D17S1275;RH27938;STS-L10678;WI-15778 D3S1319E;PFL OTTHUMP00000216204;OTTHUMP00000216339;OTTHUMP00000216340;OTTHUMP00000216346;profilin II;profilin-2 APPROVED protein-coding ENSG00000070087 8882 01451 176590 REVIEWED 6481449 PGAM1P3 phosphoglycerate mutase 1 pseudogene 3 3 40364209 40364762 - 100873887 ABBA01024796;AC104186;AMYH01013101;NG_032517 pseudo 42450 INFERRED 1345189 PGA3 pepsinogen 3, group I (pepsinogen A) 11 11 q12.2 60727560 60736926 + 60970984 60980350 + 1580863;6480464 8125298;19196398;18844222;17559360;15688378;14702039;6300126;21175799;12477932 643834 F5GXL4;F5H0H6;F5H7H3;F5H842;P0DJD8 ABBA01158882;AK125628;AK225669;AK225674;AK225679;AK301286;AK301293;AK312941;AL832946;AMYH01003670;AMYH01003671;AP000437;BC171815;NM_001079807 AAI60184;AAI71815;BAG35783;BAG54225;BAG62845;BAG62851;CAH56304;NP_001073275 Hs.601055 1742531;5024143;5120149 GDB:197565;GDB:197855;STS-R83655 DKFZp666J2410;PGA4;PGA5 OTTHUMP00000237816;OTTHUMP00000238421;pepsin A;pepsinogen A3 protein-coding 8885 169710 VALIDATED 1347216 PFN4 profilin family, member 4 2 2 2 p23.3 24178574 24186481 - 24191745 24199655 - 24338244 24346151 - 1580863;6480464;6907045 19419568;15489334;22318606;12477932;19773279 375189 Q8NHR9 ABBA01045102;ABBA01045103;AC008073;AK292601;AMYH01010164;BC029523;BC043236;CH471053;NM_199346 AAH29523;AAY14666;BAF85290;EAX00760;EAX00761;NP_955378;Q8NHR9 Hs.442718 5022578 D1S1423 OTTHUMP00000116035;profilin IV;profilin-4 protein-coding 31103 15120 PROVISIONAL 5144717 PGAM1P6 phosphoglycerate mutase 1 pseudogene 6 2 2 23935526 23936275 - 24095135 24095884 - 100420567 ABBA01045095;AC066692;AMYH01010163;NG_023552;NG_029017 pseudo 42453 INFERRED 5144716 PGAM1P7 phosphoglycerate mutase 1 pseudogene 7 X X 50697871 50698604 - 46506032 46506765 - 100420650 ABBA01052235;AL022165;AMYH01022251;NG_012622;NG_026685 pseudo 42454 INFERRED 5144718 PGAM1P9 phosphoglycerate mutase 1 pseudogene 9 11 11 89404221 89404972 - 92099665 92100416 - 100420681 ABBA01040057;AMYH01003946;AP000722;NG_024403 pseudo 42456 INFERRED 5144730 PGAM1P4 phosphoglycerate mutase 1 pseudogene 4 3 3 3 p25.3 9324840 9325586 + 9365127 9365876 + 9390127 9390873 + 391508 ABBA01020411;AC026191;AMYH01012963;NG_022236 1920904 REN31273 pseudo 42451 INFERRED 1345764 PGAM3P phosphoglycerate mutase 3, pseudogene 20 20 20 p12.2 11671824 11672250 + 11549599 11550225 + 11601700 11602126 + 11961099 170535 ABBA01053944;AL109837;AMYH01011712;NG_001047 dJ1128N12.1 pseudo 16557 INFERRED 1604671 PGAM4 phosphoglycerate mutase family member 4 This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010] X X X q13 77464542 77466219 - 77110114 77111791 - 77223458 77225135 - 6907045 16201836;22590500;11961099;16916647;10737800;9370262;21906983;22505724 441531 O00228;Q8N0Y7 ABBA01029585;AF465731;AF465732;AF465733;AF465734;AF465735;AF465738;AF465739;AF465740;AF465741;AF465742;AF465743;AF465745;AL772330;AMYH01022630;BG875904;DQ120647;HH770395;NG_013224;NG_021360;NM_001029891;U76194;Z94801 AAI48677;AAM27282;AAM27283;AAM27284;AAM27285;AAM27286;AAM27289;AAM27290;AAM27291;AAM27292;AAM27293;AAM27294;AAM27296;ABB92432;CAB08163;CBX85915;NP_001025062;Q8N0Y7 Hs.632822 2151213;5014705;5113629 AL023617;NIB1467;SHGC-8034 PGAM-B;PGAM1;PGAM3;dJ1000K24.1 OTTHUMP00000063546;phosphoglycerate mutase 4;phosphoglycerate mutase family 3;phosphoglycerate mutase processed protein;probable phosphoglycerate mutase 4 APPROVED protein-coding ENSG00000226784 21731 300567 REVIEWED 5144708 PGAM4P1 phosphoglycerate mutase family member 4 pseudogene 1 X X 58530977 58531626 + 54698419 54699068 + 100421178 ABBA01069600;AL109854;AMYH01022432;NG_026840 pseudo 42465 INFERRED 5144725 PGAM4P2 phosphoglycerate mutase family member 4 pseudogene 2 4 4 4 q26 113977599 113978246 - 116904704 116925967 - 116685270 116685917 - 100131611 ABBA01063854;AC093744;AMYH01014477;NG_022028 1695960 SHGC-78921 pseudo 42466 INFERRED 1606055 PGA4 pepsinogen 4, group I (pepsinogen A) 11 11 q12.2 60746397 60755755 + 60989821 60999179 + 6480464 6300126;15489334;12477932;7663352;3197840;2714789;2515193;2415509 643847 F5GXL4;F5H0H6;P0DJD7 AK291864;AK301305;AP000437;AP003037;BC150659;BC171808;BC171814;BC171910;BC171920;NM_001079808 AAI50660;AAI52845;AAI71808;AAI71814;AAI71910;AAI71920;BAF84553;BAH13455;NP_001073276;P0DJD7;P0DJD8 Hs.661883 1742531;5024143;5120149 GDB:197565;GDB:197855;STS-R83655 FLJ58952;FLJ77962;PGA3;PGA5 OTTHUMP00000237819;pepsin A;pepsinogen A4;pepsinogen-3;pepsinogen-4 protein-coding 8886 169720 VALIDATED 5144712 PGAM5P1 phosphoglycerate mutase family member 5 pseudogene 1 5 5 105160515 105161343 - 109220310 109221138 - 23535033 100421133 ABBA01069083;AC011366;AMYH01015545;NG_024616 pseudo 42467 INFERRED 1350538 PGA5 pepsinogen 5, group I (pepsinogen A) 11 11 q13 60765245 60775492 + 61008644 61018929 + 1580863;6480464 2609705;15489334;14702039;12477932;9421118;8187358;8125298;7663352;6300126;3467902;3305135;3197840;3191614;3115885;2920466;2797342;2714789;2515193;2415509;1906854 5222 C9JM59;F5GWT0;P0DJD9 ABBA01003192;ABBA01003193;ABBA01003194;ABBA01003195;ABBA01003196;AMYH01003671;AMYH01003672;AMYH01003673;AMYH01003674;AMYH01003675;AMYH01003676;AMYH01003677;AP003037;BC029055;BC146999;BC171889;BC171897;CH471076;J00287;M26032;M27596;M27598;NM_014224 AAA36431;AAA36432;AAA60061;AAA98529;AAH29055;AAI47000;AAI71889;AAI71897;EAW73928;NP_055039;P0DJD9 Hs.432854 5024143;5120149 GDB:197565;STS-R83655 PGA3;PGA4 OTTHUMP00000237822;pepsin A;pepsin A-5;pepsinogen A5;pepsinogen-5 protein-coding ENSG00000256713 8887 01356 169730 VALIDATED 5490874 PGAM1P8 phosphoglycerate mutase 1 pseudogene 8 11 11 q13.1 64698152 64700517 - 64941599 64942962 - 12477932 440043 ABBA01024133;AMYH01003716;AP003068;NG_023196 1920910 REN31276 pseudo 42455 INFERRED 5144722 PGAM1P5 phosphoglycerate mutase 1 pseudogene 5 12 12 12 q22 95715374 95739663 + 94567162 94591906 + 96066081 96066841 + 12477932 100132594 ABBA01053328;AC008128;AMYH01004675;BC022928;BX509596;NR_077225 Hs.676211 2219206 NTN4__6080 pseudo 42452 VALIDATED 68971 PGAM2 phosphoglycerate mutase 2 (muscle) Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009] 7 7 p13-p12 44068851 44071688 - 44102326 44105186 - 1599129;1300048;1580863;2302795;2302794;6480464;6907045;7240710 8447317;15720133;18092946 6262916;15489334;12477932;10545043;2822696;2549058;2153628;2145198;19615732;17370265;21555454;21906983;21890473;21963094;23000965;21628590;21252943;22505724 5224 P15259 AACC02000110;ABBA01058213;AC017116;AMYH01017208;BC001904;BC073741;CH236960;CH471128;CT002473;HH770027;HH770391;J05073;M18172;M55673;M55674;NG_013016;NM_000290 AAA60072;AAA60073;AAA64238;AAH01904;AAH73741;CBX85731;CBX85913;EAL23769;EAW61128;NP_000281;P15259 Hs.632642 1660038;1673403;2162585 PGAM2;RH18175;WI-16185 GSD10;MGC88743;PGAM-M;PGAMM BPG-dependent PGAM 2;OTTHUMP00000207787;muscle-specific phosphoglycerate mutase;phosphoglycerate mutase 2;phosphoglycerate mutase isozyme M APPROVED protein-coding ENSG00000164708 8889 02027 261670;612931 REVIEWED 737211 PGAM1 phosphoglycerate mutase 1 (brain) Phosphoglyceric acid mutase (EC 2.7.5.3) is widely distributed in mammalian tissues where it catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway (summary by Chen et al., 1974 [PubMed 4811757]).[supplied by OMIM, Nov 2010] 10 10 q25.3 99176017 99183188 + 99186027 99193198 + 1300048;1580863;2302794;6480464;6907045 18092946 20471030;22939629;23153533;19686046;12189148;2846554;19405953;16881065;15710582;15592455;15489334;15388943;14702039;12477932;9150946;9110174;8619474;8125298;6282177;2846553;2822696;16169070;20403181;20847263;4811757;16196087;19135240;22586326;18781797;20849852;21139048;21890473;21906983;22079093;18239623;22157007;22536838;22505724 5223 P18669;Q6FHU2 ABBA01021803;AK223096;AK292216;AK293023;AK295991;AK296619;AK297491;AK312351;AK315910;AL355490;AMYH01002977;AY007118;BC000455;BC010038;BC011678;BC053356;BC062302;BC066959;BC073742;BC157873;CH471066;CR541659;CR541744;HH770043;HH770385;J04173;NM_002629 AAA60071;AAG01990;AAH00455;AAH10038;AAH11678;AAH53356;AAH62302;AAH66959;AAH73742;AAI57874;ABM83991;ABM87317;BAD96816;BAF84905;BAF85712;BAG35272;BAG58766;BAG59227;BAG59909;BAH14281;CAG46460;CAG46544;CBX85739;CBX85910;EAW49937;EAW49938;EAW49939;EAW49940;EAW49941;EAW49942;EAW49943;EAW49944;NP_002620;P18669 Hs.632918 5014705;5113629 NIB1467;SHGC-8034 PGAM-B;PGAMA BPG-dependent PGAM 1;OTTHUMP00000020190;phosphoglycerate mutase 1;phosphoglycerate mutase A, nonmuscle form;phosphoglycerate mutase isozyme B APPROVED protein-coding ENSG00000171314 8888 01392 172250 PROVISIONAL 733101 PGAP2 post-GPI attachment to proteins 2 11 11 11 p15.5 3824025 3852735 + 3786360 3804160 + 3818954 3847601 + 6480464;7240710 10585768;16407401;16344560;12477932;7829101;23561846;23561847 27315 A8MYS5;A8MZF5;B7Z2X5;E9PKT0;E9PPF7;E9PQ19;E9PRZ2;H0YCI9;H0YCQ4;H0YCR4;H0YDC6;H0YDJ5;H0YDQ4;H0YDV9;H0YDZ3;H0YE14;H0YEE9;H0YEG9;H0YF47;H7BXL9;Q9UHJ9 ABBA01032048;ABBA01032049;ABBA01032050;AC090587;AF159615;AF159621;AK130030;AK292181;AK295202;AK301991;AK307359;AK308525;AL049261;AL096753;AL558360;AMYH01003348;AY373030;BC009930;BG468212;BG707484;BI460657;BI497274;BI759334;BI768071;BI771208;BI772237;BI911028;BX340489;BX379511;CB988453;CH471158;CX872317;DA287291;NM_001145438;NM_001256235;NM_001256236;NM_001256237;NM_001256238;NM_001256239;NM_001256240;NM_014489;NR_027016;NR_027017;NR_027018;NR_045923;NR_045925;NR_045926;NR_045927;NR_045929 AAF12755;AAF19156;AAH09930;AAQ75733;BAC85281;BAF84870;BAH12011;BAH13602;CAB46428;EAX02568;EAX02569;EAX02570;EAX02571;EAX02572;EAX02573;EAX02574;NP_001138910;NP_001243164;NP_001243165;NP_001243166;NP_001243167;NP_001243168;NP_001243169;NP_055304;Q9UHJ9 Hs.133968 1675722;2109321;2129005;5015322;5015404;5016478;5020946;5024413;5037552 D10S512;D11S4525;D8S2279;FRAG1_9547;GDB:434012;L17705;L17877;L17971;RH94228 CWH43-N;FLJ26520;FRAG1;HPMRS3;MGC799;MRT17;MRT21 FGF receptor activating protein 1;FGF receptor-activating protein 1;OTTHUMP00000014114;OTTHUMP00000014115;OTTHUMP00000229137;OTTHUMP00000229138;OTTHUMP00000229213;OTTHUMP00000229215;OTTHUMP00000229217;OTTHUMP00000229229;OTTHUMP00000229265;cell wall biogenesis 43 N-terminal homolog;post-GPI attachment to proteins factor 2 protein-coding ENSG00000148985 17893 17016 614207;615187 VALIDATED 1342943 PGBD3P1 piggyBac transposable element derived 3 pseudogene 1 12 12 12 q13.12 61294175 61296184 - 59911098 59913094 - 61624724 61626733 - 267005 ABBA01026654;AC090017;AMYH01004532;NG_002400 pseudo 19402 INFERRED 1345542 PGBD3P2 piggyBac transposable element derived 3 pseudogene 2 5 5 5 p13.3 29763379 29764633 - 29917468 29918281 - 29881806 29883060 - 267006 ABBA01066703;AC010374;AMYH01014991;NG_002401 pseudo 19397 INFERRED 1352420 PGBD3P3 piggyBac transposable element derived 3 pseudogene 3 12 12 12 q24.2 126600836 126601993 + 125560517 125561874 + 126994665 126995822 + 267007 ABBA01060317;AC006065;AMYH01004862;NG_002402 pseudo 19396 INFERRED 1343105 PGBD3P4 piggyBac transposable element derived 3 pseudogene 4 4 4 4 p14 44036459 44038468 + 43282994 43285037 + 43588337 43590346 + 9847074 267008 ABBA01014301;AC114774;AMYH01014142;NG_002403 pseudo 19379 INFERRED 1604217 PGAM5 phosphoglycerate mutase family member 5 12 12 12 q24.33 132987362 133009550 + 131797509 131805825 + 133287393 133299323 + 6480464 18387606;21145461;21151955;21628590;17046835;16169070;15324660;14702039;12477932;11283018;19590015;19596235;19615732;7584027;21182205;22990118;23084401;23201124;19167051;20186120;18781797;21081666;21987572;22072718;22118674;22915595;21907836;21139048;21890473;21906983;22265414;22586326;22505724 192111 F5GXG4;Q96HS1 ABBA01012372;ABBA01012373;ABBA01012374;ABBA01012375;ABBA01012376;AC135586;AF357523;AK097688;AMYH01004921;BC008196;BC047906;CA307621;CH471218;CR995429;D25830;DR155760;EU249757;NM_001170543;NM_001170544;NM_138575 AAH08196;AAK60627;ABX39494;EAW54825;EAW54826;EAW54827;NP_001164014;NP_001164015;NP_612642;Q96HS1 Hs.102558 1698852;2173388;2173390;2178195;5015404;5022463;5022578;5037552;5109281 A005X42;D1S1423;D1S1425;D3S1673;D8S2279;G20583;L17705;RH102991;RH44489 BXLBv68;MGC5352 Bcl-XL-binding protein v68;OTTHUMP00000237613;OTTHUMP00000237614;OTTHUMP00000237615;OTTHUMP00000237616;serine/threonine-protein phosphatase PGAM5, mitochondrial protein-coding ENSG00000247077 28763 14681 614939 VALIDATED 6769313 PGBD4P2 piggyBac transposable element derived 4 pseudogene 2 20 43470566 43471189 - 100421228 ABBA01052654;AL118522;AMYH01011935;NG_024979 pseudo 44077 INFERRED 6769292 PGBD4P3 piggyBac transposable element derived 4 pseudogene 3 5 147687274 147687813 + 100421136 ABBA01026318;AC091948;AMYH01015699;NG_024731 pseudo 44068 INFERRED 6769304 PGBD4P4 piggyBac transposable element derived 4 pseudogene 4 4 131415828 131416434 + 100421146 ABBA01044840;AC092540;AMYH01014526;NG_025253 pseudo 44076 INFERRED 6769289 PGBD4P5 piggyBac transposable element derived 4 pseudogene 5 2 89221624 89222269 - 100421123 AC096767;AMYH01010629;AP001240;NG_000834 pseudo 44070 VALIDATED 6769290 PGBD4P6 piggyBac transposable element derived 4 pseudogene 6 X 142431763 142432390 + 100421180 ABBA01066380;AC239727;AL022719;AMYH01023125;NG_026900 pseudo 44071 INFERRED 6769291 PGBD4P7 piggyBac transposable element derived 4 pseudogene 7 1 95138477 95139725 - 100421182 ABBA01045506;AC093117;AMYH01000809;NG_026961 1701552 RH104409 pseudo 44074 INFERRED 6769312 PGBD4P8 piggyBac transposable element derived 4 pseudogene 8 1 60563073 60563649 + 100421185 ABBA01074644;AC097066;AMYH01000661;NG_027099 pseudo 44075 INFERRED 1352306 PGAP3 post-GPI attachment to proteins 3 17 17 17 q12 34487104 34504028 - 35080901 35097836 - 37827375 37844310 - 6480464 15010812;17021251;12460457;19124506;17314402;17117180;16303743;12975309;12739007;12477932;19913121;20628086;22188591 93210 B4DGK7;J3KTJ2;J3QKU0;J3QQL0;J3QRN7;Q96FM1 AB088396;ABBA01031860;AC087491;AF217980;AK057911;AK075473;AK075474;AK289612;AK294639;AK301106;AK314469;AL833198;AMYH01008375;AY358437;BC010652;CH471152;NM_033419 AAG17223;AAH10652;AAQ88803;BAC11642;BAC55580;BAF82301;BAG57818;BAG62705;EAW60589;EAW60590;EAW60591;EAW60592;EAW60593;EAW60594;NP_219487;Q96FM1 Hs.462971 1644297;1762665;2116282;2116284;5491499 A005W25;G20552;MARC_16029-16030:1017091429:1;RH12695;SHGC-146459 AGLA546;CAB2;MGC9753;PER1;PERLD1;PP1498 COS16 homolog;PER1-like domain-containing protein 1;gene coamplified with ERBB2 protein;hCOS16;per1-like domain containing 1;post-GPI attachment to proteins factor 3 protein-coding ENSG00000161395 23719 15118 611801 VALIDATED 1605037 PGAP1 post-GPI attachment to proteins 1 PGAP1 catalyzes the inositol deacylation of glycosylphosphatidylinositol (GPI) at an early step in GPI biosynthesis. Inositol deacylation is essential for the generation of mature GPI capable of attachment to proteins (Tanaka et al., 2004 [PubMed 14734546]).[supplied by OMIM, Mar 2008] 2 2 2 q33.1 191453596 191547318 - 197405973 197499699 - 197697728 197791454 - 6480464;6907045 14702039;15489334;14734546;12975309;12477932;1846368;17711852;15815621;20379614;19343720;22118674;21853274 80055 A6NI33;B4DYY6;F8WD75;H7BZN8;Q75T13 AB128038;ABBA01062462;ABBA01062463;ABBA01062464;AC012486;AC017035;AK001646;AK022439;AK124764;AK302663;AK309112;AK310484;AL050078;AMYH01011385;AMYH01011386;AMYH01011387;AMYH01011388;AY358624;BC040517;BX648642;NM_024989 AAI52720;AAQ88987;AAX88854;AAY15059;BAB14035;BAD13427;BAG63898;CAH10543;NP_079265;Q75T13 Hs.229988 1338909;1673164;1848282;5015619;5020740 D11S3114;D2S2327;L17809;RH45473;WI-11026 Bst1;FLJ42774;ISPD3024 GPI deacylase;GPI inositol-deacylase;OTTHUMP00000163621;OTTHUMP00000205622;hPGAP1;post-GPI attachment to proteins factor 1 APPROVED protein-coding 25712 10147 611655 VALIDATED 4892175 PGCP1 progastricsin (pepsinogen C) pseudogene 1 1 1 1 p13.2 110174095 110179426 - 111727158 111736148 - 111927141 111932473 - 441897 ABBA01068397;AL356387;AMYH01000946;DV080281;DV080282;NR_029429 Hs.568387 1766063 SHGC-149445 pseudo ENSG00000227179 39503 VALIDATED 1352422 PGBD1 piggyBac transposable element derived 1 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010] 6 6 6 p22.1 29855760 29876770 + 28357343 28378305 + 28249314 28270326 + 6480464 18029348;18830724;12477932;8889548;8125298;20873219;20534741;20673877;12955498;16344560;22037552;22488895 84547 Q96JS3 ABBA01038015;ABBA01038016;ABBA01038017;AK223446;AK291228;AL021997;AMYH01016189;BC019876;BC032507;BC040117;BC069033;BC128585;BQ185356;CH471081;D88259;DA946293;NM_001184743;NM_032507 AAH69033;AAI28586;BAB46919;BAD97166;BAF83917;EAX03151;NP_001171672;NP_115896;Q96JS3 Hs.144527 2160577 RH79237 HUCEP-4;SCAND4;dJ874C20.4 OTTHUMP00000016203;cerebral protein 4;cerebral protein-4;piggyBac transposable element-derived protein 1 APPROVED protein-coding ENSG00000137338 19398 11426 REVIEWED 1312360 PGBD2 piggyBac transposable element derived 2 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q44 222361518 222374710 + 247167065 247179968 + 249200442 249213345 + 6480464 12477932;11247672;12955498 267002 F5H4U7;Q6P3X8 ABBA01002093;AF229602;AI038307;AK123219;AK298248;AL672183;AMYH01001953;BC063785;BX647065;CH471257;NM_001017434;NM_170725 AAH63785;BAG53880;BAG60513;CAE46192;EAW57543;EAW57544;EAW57545;NP_001017434;NP_733843;Q6P3X8 Hs.602037 1732011;2107493;2166571 Bda84f03;D1S553;PGBD2__6979 OTTHUMP00000038245;OTTHUMP00000038246;piggyBac transposable element-derived protein 2 APPROVED protein-coding 19399 17837 VALIDATED 1344429 PGDP1 phosphogluconate dehydrogenase pseudogene 1 18 18 18 q12.1 26348503 26350090 + 27796139 27797582 + 29542092 29543679 + 342705 ABBA01022500;AC009831;AMYH01008928;NG_022489 1751689;5017514 PGD;SHGC-105729 PGDL1 APPROVED pseudo 8892 INFERRED 4744876 PGDP2 phosphogluconate dehydrogenase pseudogene 2 12 12 12 q21.2 75661195 75662701 + 74280094 74281603 + 75993827 75995333 + 100129649 ABBA01026469;AC022507;AMYH01004593;NG_021727 pseudo 39144 INFERRED 1349691 PGFL placental growth factor-like 23611 8894 1345759 PGBD3 piggyBac transposable element derived 3 This gene is a member of a small family of genes derived from piggyBac transposable elements. The encoded protein contains a zinc-ribbon domain characteristic of transposon-derived proteins and may function as a regulator of transcription. Naturally-occurring readthrough transcription occurs between this gene and the adjacent ERCC6 gene (GeneID 2074), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. There are several pseudogenes for this gene on chromosomes 4, 5 and 12. [provided by RefSeq, Mar 2013] 10 10 10 q11 44309274 44318482 - 50393250 50402332 - 50723151 50732359 - 6480464 18369450;12477932;12955498;16385451;20379614;22483866;21143350;23028371;23369858;21988832 267004 Q8N328;Q9UIW3 ABBA01041070;AK074682;AL133084;AL138760;AMYH01002642;BC028954;BC063690;BG121679;CH471187;CQ783578;NG_009442;NG_033155;NM_170753 AAH28954;AAH63690;BAG51986;CAB61402;CAF86746;EAW93095;NP_736609;Q8N328 Hs.49063 1679417;1685984;1730219;1736050;1736100;1851797;2172666 D10S1321E;D10S1378E;D10S1553;D10S238E;RH26695;RH44808;RH98308 FLJ90201 OTTHUMP00000019580;piggyBac transposable element-derived protein 3 APPROVED protein-coding ENSG00000243251 19400 17838 REVIEWED 7206858 PGGT1BP1 protein geranylgeranyltransferase type I, beta subunit pseudogene 1 10 q11.23 52486705 52487729 - 653895 ABBA01052484;AL589794;AMYH01002734;NG_028750 pseudo 45024 INFERRED 1349164 PGBD4 piggyBac transposable element derived 4 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, Jul 2008] 15 15 15 q14 11196786 11206578 + 32181566 32183883 + 34394274 34396591 + 6480464 14702039;12477932;12955498 161779 Q96DM1 ABBA01038544;AC079203;AK057200;AK094816;AK289491;AMYH01006510;BC130441;CH471125;NM_152595 BAB71379;BAC04428;BAF82180;EAW92287;NP_689808;Q96DM1 Hs.156317 FLJ32638;FLJ37497 OTTHUMP00000159732;piggyBac transposable element-derived protein 4 APPROVED protein-coding ENSG00000182405 19401 17839 VALIDATED 1351767 PGK1P1 phosphoglycerate kinase 1, pseudogene 1 X X X q12 67641400 67643172 - 67206544 67208513 - 67289920 67291692 - 2987238;1840656;1549504 5231 ABBA01067300;AL158201;AMYH01022517;K03201;NG_001170;NG_008960;X56251 1666781;1679782;1741613;1742279;2119427;2124482;2156642 DXS7497;GDB:181567;GDB:194746;RH10979;RH36157;RH79992;WI-19211 pseudo 8897 INFERRED 1343838 PGK1P2 phosphoglycerate kinase 1, pseudogene 2 19 19 19 p13.3 12564086 12565877 + 12531350 12533076 + 12670299 12672090 + 3502690;3016919;2995234 5233 ABBA01029791;AC010422;AMYH01009492;NG_001528 PGK2 pseudo 8899 INFERRED 1321950 PGBD5 piggyBac transposable element derived 5 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, May 2010] 1 1 1 q42.13 203723266 203779187 - 228524015 228579990 - 230457392 230561674 - 6480464 14702039;12955498;12477932;18951430;22797925 79605 J3KNK5;Q8N414 ABBA01007318;ABBA01033022;ABBA01033023;ABBA01033024;AK021475;AK297321;AK315968;AL133516;AL691479;AL833243;AMYH01001811;BC013901;BC027466;BC036865;BC150638;CH471098;CX757968;NM_001258311 AAH13901;AAH27466;AAH36865;AAI50639;BAB13832;BAG59784;BAH14339;EAW69912;NP_001245240;Q8N414 Hs.520463 1724847;2140782;2140784;2144973;2158342 A005B21;G20244;RH119186;RH26826;RH64527 DKFZp761A0620;FLJ11413 OTTHUMP00000035879;OTTHUMP00000228879;piggyBac transposable element-derived protein 5 APPROVED protein-coding 19405 10148 REVIEWED 1351013 PGL2 paraganglioma or familial glomus tumors 2 7240710 7814027 5235 8901 601650 735292 PGC progastricsin (pepsinogen C) This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009] 6 6 p21.1 41812430 41823099 - 41704449 41715139 - 1580863;6480464 1280267;3335549;19624876;19173902;19132389;18844222;18447628;18256027;17559360;17288837;16937501;15688378;15503827;15489334;15200883;14574404;12759353;12698190;12508350;12477932;12128264;9794784;9421118;9406551;9267315;8876968;8322031;8125298;7714902;6816595;3305135;2909526;2567697;2515193;1906854;11915945;14578117;15479977;16842245;16995475;17567994;18200011;18416347;19230047;19731026;20379614;2612209;6794457;15784253;23117263;18029348;21303408;22066020;23178618 5225 A2A3L9;P20142;Q4VXA6 ABBA01050748;AK223274;AK301298;AK301325;AL365205;AMYH01016298;BC042578;BC073740;CH471081;J04443;M18659;M18660;M18661;M18662;M18663;M18664;M18665;M18666;M18667;M23077;NM_001166424;NM_002630;U75272 AAA60062;AAA60063;AAA60074;AAB18273;AAH42578;AAH73740;BAG62855;BAG62874;EAX04059;NP_001159896;NP_002621;P20142 Hs.1867 1742149;1801306;1802770;1808080;1815940;1817128;1817538;1821112;1825960;1826648;1830046;1832700;1832842;1839402;1843336;1979692;1979694;1979696;1979698;1979700;1979702;1979704;1979706;1979708;1979710;1979712;1979714;1979716;1979718;1979720;1979722;1979724;1979726;1979728;1979730;1979732;1979734;1979736;1979738;1979740;1979742;1979744;1979746;1979748;1979750;1979752;1979754;1979756;1979758;1979760;1979762;1979764;1979766;1979768;1979770;1979772;1979774;1979776;1979778;1979780;1979782;1979784;1979786;1979788;1979790;1979792;1979794;1979796;1979798;1979800;2113838;2172051;2173384;2216208;2216210;2216212;2216214;2216216;2216218;2216220;2216222;2216224 ECD01525;ECD02272;ECD05018;ECD09010;ECD09614;ECD09819;ECD11633;ECD14089;ECD14438;ECD16156;ECD17491;ECD17562;ECD20883;ECD22876;GDB:192406;PGC;REN60737;REN60738;REN60739;REN60740;REN60741;REN60742;REN60743;REN60744;REN60745;REN60746;REN60747;REN60748;REN60749;REN60750;REN60751;REN60752;REN60753;REN60754;REN60755;REN60756;REN60757;REN60758;REN60759;REN60760;REN60761;REN60762;REN60763;REN60764;REN60765;REN60766;REN60767;REN60768;REN60769;REN60770;REN60771;REN60772;REN60773;REN60774;REN60775;REN60776;REN60777;REN60778;REN60779;REN60780;REN60781;REN60782;REN60783;REN60784;REN60785;REN60786;REN60787;REN60788;REN60789;REN60790;REN60791;RH46782;SHGC-35331;stSG634977;stSG634979;stSG634981;stSG634982;stSG634983;stSG634984;stSG634985;stSG634986;stSG634987 FLJ99563;PEPC;PGII OTTHUMP00000016377;gastricsin;pepsin C;pepsinogen C;pepsinogen group II;preprogastricsin;progastricsin APPROVED protein-coding ENSG00000096088 8890 01357 169740 REVIEWED 1347328 PGF placental growth factor This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011] 14 14 q24.3 74478290 74492044 - 75408533 75422467 - 1580860;1580863;1642385;1642386;1642387;1642388;1642390;1642394;1642384;2298727;6480464;6483582;6483584;6483783;6483611;6483775;6483777;6483608;6483613;6483614;6483782;6483583;6483602;6483603;6483605;6483606;6483779;6483610;6483589;6483591;6483607;6483574;6483577;6483576;6483586;6483587;6483609;6483588;6483601;6483773;6483572;6483585;6483596;5135245;6483573;1643338;6483612;6483590;6483604;6483571;6483592;6483774;6907045 16843105;16020476;15911697;12808329;17240241;16543713;17483449;16769024;16633338;21264946;20649603;16901914;19356732;21408222;21329947;20889885;18192038;17194893;17917370;21056561;16614757;11939589;22268141;21988672;20720407;20195855;19952000;19180491;21520176;21900081;21756887;21873332;20213923;20142801;20822327;20040765;16702604;22114497;22160787;20458050;17157858;17023518;22119626;17935226;19276301;19327525;22270936;22461185;17980128;22079325 9467961;19505392;19293668;19165674;19135290;19022893;19010294;18945963;18927470;18615591;18566591;18421240;18411415;18306920;18293205;18264952;18175241;18160678;18079407;18006829;17982238;17956952;17704140;17696935;17187248;16864484;16839256;16635470;16146532;16005848;15886253;15710418;15516835;15489334;15272021;15126502;14741347;14684734;14645176;14568677;14568550;13678785;12824270;12796773;12714517;12673673;12618519;12548214;12548207;12543719;12508121;12477932;12453985;12393422;12091880;12086892;11986311;11811792;11810642;11297624;11069911;11000388;10919072;10783260;10748121;9452434;9207183;9116151;9111514;8786112;8148155;7929268;7681160;1924389;18258238;21867402;22498340;20335221;21401353;21464949;20133349;20301202;20451352;20509158;20673868;15938782;17593833;19508152;19602778;19657001;19845534;19956853;20027339;20043119;20097868;20137369;20149032;20351105;20452482;20921624;20091685;17981115;20371352;20515481;20500895;20521248;20948996;21175428;21384313;21062661;21215706;22055338;22675957;21123739;22770630;22963269;23209675;22916133;21534854;21709213;23102494;23421942;21501325;22103490;21568945;22000672;21827221;21715541;21876459;22170453;22286035;21717483;21703189;22385934;22386962;22418953;22647886;23452854;23140147;21939291;22446996;22683469;22902831 5228 G3XA84;P49763;Q53XY6;Q86TW6 A18411;ABBA01030712;AC006530;AK309886;AK310608;AK310886;AMYH01005857;BC001422;BC007255;BC007789;BT007182;BX248289;BX356823;CH471061;CQ858316;CS067234;CS172367;CS367406;EU332861;HC040687;JX512453;NG_029168;NM_001207012;NM_002632;S57152;S72960;X54936 AAB25832;AAB30462;AAD30179;AAH01422;AAH07255;AAH07789;AAP35846;ABM83062;ABM86256;ABY87550;AGC09600;CAA01393;CAA38698;CAD62617;CAH23419;CAI84580;CAJ32891;CAL32761;CBH30536;EAW81207;EAW81208;EAW81209;NP_001193941;NP_002623;P49763 Hs.252820 1648740;1659612;2110649;2127716;2132021;2161311 D12S1900;D14S850;G10734;PGF_2125;RH70005;RH70836 D12S1900;PGFL;PLGF;PlGF-2;SHGC-10760 OTTHUMP00000246216;OTTHUMP00000246217;OTTHUMP00000246218;OTTHUMP00000246394;placenta growth factor;placental growth factor, vascular endothelial growth factor-related protein;placental growth factor-like APPROVED protein-coding ENSG00000119630 8893 03076 601121 REVIEWED 734288 PGGT1B protein geranylgeranyltransferase type I, beta subunit Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010] 5 5 5 q22.3 110494046 110546088 - 114575476 114626449 - 114546527 114598569 - 729477;1580863;1300048;6480464 8106351 16344560;15451670;14598891;12477932;11076863;7713879;1400319;19667218;20403997;20446922;22863883;21906983;22160308;22632162 5229 P53609 ABBA01069034;ABBA01069035;AC008494;AL520655;AMYH01015555;AMYH01015556;AW382606;AY780790;CH471086;DA024020;NM_005023 AAI11925;AAI18497;AAV98360;EAW48968;EAW48969;NP_005014;P53609 Hs.254006 1679497;1723785;5113504 RH122222;RH40185;RH68128 BGGI;GGTI GGTase-I-beta;OTTHUMP00000159133;OTTHUMP00000222921;geranylgeranyl transferase type I subunit beta;geranylgeranyl transferase type-1 subunit beta;geranylgeranyltransferase type I beta subunit;geranylgeranyltransferase type i (ggtase-i);type I protein geranyl-geranyltransferase subunit beta APPROVED protein-coding ENSG00000164219 8895 03612 602031 VALIDATED 1343939 PGD phosphogluconate dehydrogenase 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. [provided by RefSeq, Jul 2008] 1 1 p36.22 10381672 10402788 + 10459085 10480201 + 1599574;1580863;1625539;6480464;6907045 2843500;15466941 16169070;19615732;15231747;3858849;15489334;12498092;12477932;9920387;8978909;4517931;3932573;3864603;2283141;19913121;20628086;20676096;20675101;22863883;23077236;21444627;16196087;22360420;18781797;20639865;21139048;21890473;21906983;16009940;21044950;21319273;22677172;22053931;22505724 5226 B4DQJ8;F5H7U0;K7EJT3;K7ELN9;K7EM49;K7EMN2;K7EPF6;P52209 ABBA01035601;ABBA01035602;ABBA01035603;AK290404;AK296889;AK298830;AK300952;AK303898;AK304423;AL139424;AMYH01000246;BC000368;CD700605;CH471130;NM_002631;U30255 AAA75302;AAH00368;BAF83093;BAG59448;BAG60960;BAG62580;BAG64830;BAG65252;EAW71647;EAW71648;NP_002622;P52209 Hs.464071 1667127;1678311;1751689;1770067;2128123;5017514 PGD;RH39270;RH66785;RH70785;SHGC-105729;SHGC-74199 6PGD 6-phosphogluconate dehydrogenase, decarboxylating;OTTHUMP00000001897 2289516;2289613 BW396_H;BW442_H APPROVED protein-coding ENSG00000142657 8891 01391 172200 REVIEWED 1315936 PGLS 6-phosphogluconolactonase 19 19 19 p13.2 17524049 17533713 + 17483432 17493097 + 17622432 17632097 + 1580863;2311501;6480464;6907045 971315 10518023;16189514;15489334;12477932;11457850;21139048;21906983;21044950 25796 M0R0U3;M0R1L2;M0R261;O95336 ABBA01051209;AC010618;AF091091;AJ243972;AMYH01009575;BC014006;BC017706;BG764228;CH471106;NM_012088 AAC72960;AAH14006;ABM84388;ABM87321;CAB57866;EAW84613;EAW84614;NP_036220;O95336 Hs.466165 1699264;1729908;2138129 D19S205E;RH103214;SHGC-63517 6PGL 6-phosphogluconolactonase protein-coding ENSG00000130313 8903 12001 604951 VALIDATED 1315351 PGK2 phosphoglycerate kinase 2 This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010] 6 6 p12.3 49861323 49862966 - 49753364 49755053 - 1580863;6480464;6907045 3453121;15489334;14574404;12477932;10330089;9023984;6873461;6328504;3839763;2987238;2886978;2032717;1278465;16344560;19333399;2027764;20459611;2156237;2767684;2813402;16196087;21906983;21853274;22505724 5232 P07205 ABBA01050586;AK312770;AL121974;AMYH01016340;BC038843;DB043284;HC007210;HC044715;K03019;NM_138733;X05246 AAH38843;BAG35635;CAA28872;CBH19410;CBH30687;NP_620061;P07205 Hs.367727 2179909 STS-X05246 PGK-2;PGKB;PGKPS;dJ417L20.2 OTTHUMP00000016591;phosphoglycerate kinase 2;phosphoglycerate kinase autosomal pseudogene;phosphoglycerate kinase, testis specific APPROVED protein-coding ENSG00000170950 8898 01393 172270 REVIEWED 1351704 PGLYRP1 peptidoglycan recognition protein 1 19 19 q13.2-q13.3 51214281 51218163 - 46522411 46526556 - 1580863;6480464 12669421;9707603;11461926;19023966;18774573;18643845;15956276;15769462;15572450;15489334;15140887;15057824;14585845;14506276;12975309;21247889;12477932;17502600;19666596;19913121;20628086;21984701;22037021 8993 O75594 ABBA01040959;AC007785;AF076483;AF242517;AMYH01009858;AY358936;BC096154;BC096155;BC096156;BC096157;BC101845;BC101847;CH471126;DN998360;NM_005091 AAC31822;AAD38243;AAF99598;AAH96154;AAH96155;AAH96156;AAH96157;AAI01846;AAI01848;AAQ89295;EAW57400;NP_005082;O75594 Hs.137583 MGC126894;MGC126896;PGLYRP;PGRP;PGRP-S;PGRPS;TAG7;TNFSF3L TNF superfamily, member 3 (LTB)-like (peptidoglycan recognition protein);peptidoglycan recognition protein 1 protein-coding 8904 05393 604963 VALIDATED 1346354 PGLYRP2 peptidoglycan recognition protein 2 This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011] 19 19 p13.12 15440456 15451315 - 15579456 15590315 - 6480464 16714290;14506276;7663175;11461926;19023099;18649358;17975119;16344560;16335952;16239516;16054449;15340161;15340057;15221005;14702039;12975309;12754519;12669421;12477932;11752456;11441184;20237496 114770 M0QYW3;M0R2W8;Q96PD5 AB073610;ABBA01051116;AC011492;AF384856;AK055882;AK289415;AK292292;AMYH01009555;AY358156;BC136551;BC136552;BC144238;CH471106;DB041324;NM_052890 AAI36552;AAI36553;AAI44239;AAL05629;AAQ88523;BAB71034;BAD38647;BAF82104;BAF84981;EAW84482;EAW84483;NP_443122;Q96PD5 Hs.282244 2217736 PGLYRP2_3637 HMFT0141;PGLYRPL;PGRP-L;PGRPL;TAGL-like;tagL;tagL-alpha;tagl-beta N-acetylmuramoyl-L-alanine amidase;OTTHUMP00000198257;peptidoglycan recognition protein L;peptidoglycan recognition protein long;peptidoglycan recognition protein-like APPROVED protein-coding ENSG00000161031 30013 10495 608199 VALIDATED 1353723 PGK1 phosphoglycerate kinase 1 The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. This gene lies on the X-chromosome, while a related pseudogene also has been found on the X-chromosome and another on chromosome 19. [provided by RefSeq, Oct 2008] X X q13.3 77246425 77268980 + 77359666 77382324 + 1580863;1599120;1599123;2302859;2302860;2302795;6480464;6484113;6907045;7240710 6830158;16740138;6405813;3091090;15720133 21349853;21145461;21319273;22939629;19110265;18603805;18453750;18288812;18096512;18039033;17661373;17565005;17081983;16363799;16236267;15952740;15592455;15489334;15255553;15053920;14764427;14733918;12869554;12488440;12477932;12174867;12080078;11745195;9744480;9075577;9023984;8889548;8673469;8615693;8089148;8075252;8043870;7892275;7440217;7391028;7391027;6941312;6933565;6188151;6099325;3453121;2995995;2814502;2347494;2324090;2001457;1837552;1602151;1586722;1547346;1533225;17148452;18540639;19688824;19778949;19854185;20068185;20562859;22742733;20391533;23077236;21549683;23684636;23824909;16196087;19135240;20000738;21505655;21780947;22318606;22348148;22586326;22619369;22145905;15161933;17043677;18781797;20360068;20849852;21081666;21139048;21890473;21906983;21963094;22079093;21110914;23130662;23703321;16009940;16263121;19738201;19805454;21565611;23000965;23336698;21853274;22053931;22505724 5230 B7Z7A9;E7ERH5;P00558 AB062432;ABBA01029564;ABBA01029565;AK291081;AK295014;AK295182;AK298855;AK301632;AK301740;AK303848;AK310756;AK312280;AL049589;AMYH01022631;AY423725;BC023234;BC103752;BC104837;BC113568;BU677171;CH471104;CR456716;CS037197;D28371;DC336483;HB957644;HD015054;L00159;L00160;M11968;M34017;NG_008862;NM_000291;V00572 AAA60078;AAA60079;AAA60103;AAH23234;AAI03753;AAI04838;AAI13569;AAS00488;ADR82990;BAA05737;BAB93495;BAF83770;BAG35209;BAG58074;BAG58187;BAG60978;BAG63115;BAG64791;BAH13545;CAA23835;CAG32997;CAI63840;CBG13427;CBV26941;EAW98602;EAW98603;EAW98604;NP_000282;P00558 Hs.78771 1666781;1679782;1699164;1724427;1741613;1741865;2119427;2124482;2135806;2136882;2156642 DXS6983E;DXS7497;GDB:181567;GDB:186156;RH103161;RH10979;RH122374;RH36157;RH79992;STS-AA069778;WI-19211 MGC117307;MGC142128;MGC8947;MIG10;PGKA OTTHUMP00000023595;PRP 2;cell migration-inducing gene 10 protein;phosphoglycerate kinase 1;primer recognition protein 2 APPROVED protein-coding 8896 02412 300653;311800 REVIEWED 1312063 PGLYRP3 peptidoglycan recognition protein 3 This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Sep 2011] 1 1 1 q21 126341592 126354452 - 151536962 151549818 - 153270338 153283194 - 1580863;6480464 11461926;16362825;16354652;15489334;15140887;12477932;22099350;21451128;17207965;17502600;19601998;20237496 114771 Q96LB9 ABBA01049433;AL161636;AL591704;AMYH01001403;AY035376;BC069741;BC069798;BC069801;BC128114;BC128115;CH471121;NM_052891 AAH69741;AAH69798;AAH69801;AAI28115;AAI28116;AAK72484;ADQ31968;EAW53338;NP_443123;Q96LB9 Hs.348266 1692096 AL033688 MGC149197;PGRP-Ialpha;PGRPIA OTTHUMP00000015920;PGLYRPIalpha;PGRP-I-alpha;peptidoglycan recognition protein 3;peptidoglycan recognition protein I alpha;peptidoglycan recognition protein I-alpha;peptidoglycan recognition protein intermediate alpha;peptidoglycan recognition protein-I-alpha APPROVED protein-coding ENSG00000159527 30014 16297 608197 VALIDATED 1318338 PGLYRP4 peptidoglycan recognition protein 4 Peptidoglycan recognition proteins, such as PGRPI-beta, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM, Apr 2004] 1 1 1 q21 126373854 126392283 - 151569220 151587646 - 153302596 153321022 - 1580863;6480464 11461926;16362825;16354652;15489334;12477932;17502600;20237496;20379614 57115 Q96LB8 ABBA01049433;AF086392;AF242518;AK292203;AL591704;AMYH01001403;AY035377;BC107157;BC107158;BC142636;CA487280;CH471121;NM_020393 AAF99599;AAI07158;AAI07159;AAI42637;AAK72485;BAF84892;EAW53335;EAW53336;EAW53337;NP_065126;Q96LB8 Hs.58356 2180957;2217738 PGLYRP4_3613;SHGC-57657 PGLYRPIbeta;PGRP-Ibeta;PGRPIB;SBBI67 OTTHUMP00000035127;OTTHUMP00000035128;PGRP-I-beta;peptidoglycan recognition protein 4;peptidoglycan recognition protein I beta;peptidoglycan recognition protein I-beta;peptidoglycan recognition protein intermediate beta;peptidoglycan recognition protein-I-beta APPROVED protein-coding ENSG00000163218 30015 16298 608198 VALIDATED 1316099 PGM2L1 phosphoglucomutase 2-like 1 11 11 11 q13.4 71348131 71416367 - 73719009 73787150 - 74041361 74109502 - 737633;6480464;6907045 12477932 17804405;17081983;15489334;14702039;12107410;20800603;22118674 283209 F5GWK0;Q6PCE3 AB019210;ABBA01017489;ABBA01017490;ABBA01017491;ABBA01017492;ABBA01017493;AK056591;AK090777;AL134388;AMYH01003812;AMYH01003813;AP001085;BC059360;BF038662;BX479504;CA391097;CA418308;CH471076;NM_173582 AAH59360;ADZ15592;BAA82756;BAB71227;EAW74937;NP_775853;Q6PCE3 Hs.26612 1769520;2120036;2121883;2136798;2147735;2187104;5022322;5037552 D11S1970;D11S2560;D8S2279;RH11926;RH45004;RH48785;STS-R26860;WI-15948 BM32A;FLJ32029 OTTHUMP00000238019;PMMLP;glucose 1,6-bisphosphate synthase;glucose-1,6-bisphosphate synthase;phosphoglucomutase-2-like 1 protein-coding ENSG00000165434 20898 11427 611610 VALIDATED 1346061 PGM5 phosphoglucomutase 5 Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008] 9 9 9 q13 41649833 41741061 + 70161635 70335797 + 70971815 71145977 + 1580863;6480464 8631316;8175905;10867799;12477932;9342213;8586438;7890770;7589238;22939629;22925353 5239 Q15124;Q5JTY7 AA709405;ABBA01009793;ABBA01009794;ABBA01009795;ABBA01033790;ABBA01033791;ABBA01033792;ABBA01033793;AI078570;AI374906;AK297108;AL137698;AL161457;AL353608;AL353616;AL710966;AMYH01021379;BC033073;CH471089;L40933;NM_021965 AAC41948;AAH33073;BAG59618;EAW62460;NP_068800;Q15124 Hs.307835 1340787;1341625;1674638 D9S1862;D9S234;STS-L40933 PGMRP OTTHUMP00000021418;PGM-RP;aciculin;phosphoglucomutase-like protein 5;phosphoglucomutase-related protein APPROVED protein-coding ENSG00000154330 8908 02990 600981 VALIDATED 1604857 PGM5P1 phosphoglucomutase 5 pseudogene 1 9 9 q21.11 68199195 68200168 - 68773919 68809958 - 15489334;15233989;15164053;14702039;12421752;9342213;8631316;8586438 653394 AL591385;AMYH01021221;NG_005636;X90859;Y13478 CAA73882 pseudo 28452 INFERRED 6769237 PGM5-AS1 PGM5 antisense RNA 1 9 q13 70970105 70972757 - 12477932;14702039;15233989 572558 AK098218;AL353608;AL449043;AMYH01021379;AY343891;AY343892;AY343894;BC017938;NR_015423 Hs.552787;Hs.552819;Hs.9015 APPROVED miscrna ENSG00000224958 44181 PREDICTED 1601896 PGM5P2 phosphoglucomutase 5 pseudogene 2 9 9 q12 68370060 68437674 - 69080240 69147854 - 6480464 15233989;12477932;12421752 595135 AL353763;AMYH01021232;BC007887;BC025351;BX255923;NR_002836 Hs.571593 pseudo ENSG00000227558 18965 VALIDATED 734179 PGM1 phosphoglucomutase 1 The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010] 1 1 p31 63831535 63898504 + 64058947 64125916 + 1580863;1300048;2304188;2299870;2299871;6480464;6484113;6907045;7240710 9549096;508567;5259759 7902568;1530890;18495743;18091362;16710414;15522220;15489334;15378030;12942785;12608294;12477932;11963573;11785295;10441333;8894274;8631316;8586438;8257433;7902567;4517931;3159642;1602151;19377068;19430480;20378605;20379614;20562859;20800603;21832049;22939629;21665994;22990118;18029348;20301507;18781797;21139048;21890473;21906983;21963094;22053931;23000965;21044950;23022198 5236 B4DDQ8;B7Z6C2;Q96J40 ABBA01074568;AJ243265;AK293298;AK294186;AK298505;AK300100;AK312254;AL109925;AMYH01000676;AMYH01000677;BC001756;BC019920;BC067763;BC090856;BT006961;CH471059;DC373587;M83088;NG_016966;NM_001172818;NM_001172819;NM_002633;S67989;S67998 AAA60080;AAB29177;AAB29178;AAH01756;AAH19920;AAH67763;AAH90856;AAP35607;ABM84712;ABM92235;BAG35186;BAG56819;BAG57502;BAG60712;BAH13208;CAC19809;EAX06559;EAX06560;NP_001166289;NP_001166290;NP_002624;P36871 Hs.1869 1692412;1712064;1743159;1745795;1777421;1790373;2108359;2174191 AL033854;G54079;GDB:277194;GDB:636868;PGM1-2;PGM1_8539;SHGC-74929;WI-9183 CDG1T;GSD14 OTTHUMP00000010519;OTTHUMP00000010520;PGM 1;glucose phosphomutase 1;phosphoglucomutase-1 APPROVED protein-coding ENSG00000079739 8905 01389 171900;612934;614921 REVIEWED 1314459 PGM2 phosphoglucomutase 2 4 4 p14 37504737 37540953 + 37828282 37864559 + 2304188;6480464;6907045 9549096 17804405;15489334;15342556;14702039;12665801;12477932;11230166;8125298;5885461;1203483;1192820;885546;752512;752511;564278;7902568;22939629;21139048;21890473;21044950 55276 B4E0G8;E7ENQ8;E9PD70;F5H6V2;H0Y921;Q96G03 ABBA01074312;ABBA01074313;AC021106;AC108022;AF109360;AI955714;AK001845;AK223237;AK297752;AK303374;AK310927;AL136705;AMYH01014113;BC010087;BP234074;CH471069;CR457274;NM_018290 AAH10087;AAQ13508;AAY41017;BAA91938;BAD96957;BAG60102;BAG64430;CAB66640;CAG33555;EAW92886;NP_060760;Q96G03 Hs.23363;Hs.607816 1298141;1651909;1671937;1676740;1759307;1767729;2155128;2165464 D4S2806;D4S3040;D4S3300;G41988;SHGC-151167;SHGC-24309;SHGC-37036;SHGC-59668 FLJ10983;MSTP006 OTTHUMP00000123473;PGM 2;glucose phosphomutase 2;phosphodeoxyribomutase;phosphoglucomutase-2 protein-coding ENSG00000169299 8906 11761 172000 VALIDATED 1603410 PGM3 phosphoglucomutase 3 This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 6 6 q14.1-q15 83935347 83959654 - 83874592 83903655 - 1625539;2299870;2304188;2299871;6480464;6907045 15466941;508567;9549096;5259759 21145461;11004509;15489334;14702039;14574404;12477932;12174217;10721701;8125298;6461922;468082;203189;20800603;12752494;16344560;21159204;20221814;21832049;21139048;21890473;21906983;23042605 5238 D6RC77;D6RCD1;D6RCQ8;D6RF77;D6RIS6;H0Y8I3;H0Y987;J3KN95;Q9H8G5 AB032081;ABBA01040449;AF102265;AF180371;AK001365;AK021676;AK023432;AK023685;AK023709;AK225363;AK301867;AK314512;AL049699;AL117443;AL121716;AMYH01016468;BC001258;CH471051;DB004046;DB033430;NM_001199917;NM_001199918;NM_001199919;NM_015599 AAC72409;AAD55097;AAH01258;BAB00613;BAB14652;BAG37112;BAG51190;BAG63306;CAB55928;EAW48667;EAW48668;EAW48669;EAW48670;EAW48671;NP_001186846;NP_001186847;NP_001186848;NP_056414;O95394 Hs.661665 1769666;1788666;2108361;2113834;2162933;2172442 A003M25;AB056792;D6S1162E;PGM3_8540;RH83559;STS-H71321 AGM1;DKFZp434B187;FLJ11614;FLJ13623;PAGM;PGM 3 N-acetylglucosamine-phosphate mutase;N-acetylglucosamine-phosphate mutase 1;OTTHUMP00000016791;OTTHUMP00000220839;OTTHUMP00000220840;OTTHUMP00000220841;PGM 3;acetylglucosamine phosphomutase;phosphoacetylglucosamine mutase;phosphoglucomutase-3 APPROVED protein-coding ENSG00000013375 8907 01390 172100 REVIEWED 1347680 PGS Pettigrew X-linked mental retardation syndrome 7240710 1605216 5242 8911 731081 PGR progesterone receptor This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce two isoforms, A and B. The two isoforms are identical except for the additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Jan 2011] 11 11 q22-q23 100414313 100506465 - 100900355 101000544 - 1601278;1580863;1601277;1642050;2289659;6480464;7248704;4145934;7248711 15807882;16126772;14557830;12628841;21166214;19698287;23211561 21269613;19499404;17021053;17018785;17006756;16999816;16985250;16973758;16920727;16901007;16799708;16772530;16762974;16759928;16647340;16646051;16614108;16537702;16524927;16481409;16478993;16477637;16439457;16384861;16360811;16339776;16339279;16331541;16323958;16244490;16168103;15996107;15937332;15866121;15863956;15798179;15797250;15743833;15728178;15718480;15698546;15694360;15694343;15654614;15632380;15613410;15607534;15601848;15598772;15579801;15572421;15563544;15562029;15555905;15535845;15509639;15381922;15330195;15282324;15272917;15272913;15219637;15184270;15171716;15102680;15084345;15084343;15036714;15001645;14978266;14769635;14764828;14684847;14667967;14667966;14634838;14617569;14586360;14551264;14519645;14500352;12943706;12899921;12861133;12771131;12759236;12748280;12699057;12673676;12672823;12650698;12644308;12612073;12594000;12579263;12556966;12554776;12554765;12538866;12529333;12517594;12466272;12446585;12414909;12402980;12297552;12218173;12174912;12149147;12114521;12113882;12101239;12090595;12088866;12048256;12039952;12038703;12021930;12021276;12011095;12010857;12009358;11948021;11918216;11821088;11717311;11677150;11668524;11668223;11545730;11326686;11323389;11117529;11117526;11110801;10819762;10757795;10750018;10684807;10480874;10338464;9891052;9671457;19357364;20308044;21184768;21544804;21700456;21764500;12917342;10840043;1557371;19527514;19497994;19476621;19436038;19423537;19419938;19415745;19383545;19382201;19336370;19330259;19309393;19284643;19267271;19258476;19220894;19211567;19208313;19208263;19196877;19175383;19154258;19152063;19147702;19147544;19124506;19106225;19095059;19094228;19093516;19064572;19061285;19056530;19031960;19019335;18980792;18850387;18835831;18819936;18818748;18801410;18798271;18776045;18722616;18691687;18686353;18681990;18676680;18665217;18645713;18636124;18631401;18628428;18617611;18557990;18511503;18510611;18508999;18483761;18483177;18481002;18421469;18392676;18391223;18386458;18384825;18378698;18375150;18321550;18316616;18313072;18281038;18276950;18249378;18219286;18215457;18197009;18189290;18184269;18096667;18048499;18042733;17992477;17965625;17958742;17951080;17950525;17919323;17914494;17896177;17885486;17847935;17845055;17805208;17785366;17727850;17717077;17646097;17609999;17609436;17599361;17592773;17522428;17512111;17484509;17413977;17347654;17316413;17293450;17277083;17259978;17224149;22057681;21901395;21840910;22047608;22107784;22119825;22203942;22281037;9598870;9305541;9115274;8671234;8626413;7989520;7983041;7481822;6849751;3551956;2736623;2328727;9710597;10903152;11689696;12874288;15019994;9620806;9223281;22492871;22535964;22590818;10655479;10722692;22369759;20550710;20713855;20374701;21444077;12650714;16352595;17291258;18029348;18394649;18629635;18668363;18683043;19170196;19205874;19205877;19217090;19296948;19299443;19339282;19367380;19372234;19389812;19423654;19458022;19462450;19551860;19555469;19574343;19574486;19604497;19625176;19636371;19676041;19692168;19696694;19701771;19706513;19715581;19720911;19739075;19762712;19782484;19809499;19835506;19838027;19846565;19852793;19887485;19940123;19940364;19952285;19952937;19961842;19996313;20000807;20019164;20026682;20063045;20076999;20082859;20082875;20087430;20087433;20090851;20123965;20124487;20148360;20299092;20305341;20308837;20379614;20381444;20404095;20453000;20547493;19820388;19913121;20586553;20628086;20634197;20646629;20719308;20814185;21184272;21464042;19673915;19657752;20228224;20097334;20484415;16484338;16740656;20400074;20436503;20661446;20690804;20873988;20392877;20096719;12511607;12574227;20829392;20861224;20592363;17081988;19609353;20140262;20716560;20734064;20956022;20959426;21085752;21086036;20337826;20557310;21141441;21095220;21119048;21397694;20962507;21029696;21422407;21447625;21459801;21491087;21152100;15282304;18202149;20890067;21093858;20167054;21148628;21432776;21152841;20920367;20960162;22329840;15308690;22613790;21437249;21271213;21518957;21619605;21600232;21736840;20335148;22722322;21145845;21655654;21877015;21980607;21273440;22022496;22102068;22199306;21062926;21751163;21243274;21531767;21816898;22093824;20946440;21815951;22396492;22466340;22529366;21840784;22092403;22201220;23199240;23022996;21749714;21762477;22004841;22633539;16728408;22105149;22419721;20844986;20872186;21340479;22394363;22414972;22496908;22509838;22545144;22727345;20467438;22972951;23209664;22697792;23307470;23699411;16109739;21730049;22580007;22891251;22217299;22564243;23349706;23668054;23222299;23029355;23177737;22808109 5241 P06401;Q8NG42;Q8NG44;Q8NG45;Q8TDS3 AB084248;AB085683;AB085843;AB085844;AB085845;ABBA01039961;AF016381;AK304853;AL137566;AMYH01003987;AP001533;AY212933;AY382151;AY382152;AY525610;CH471065;DQ234979;M15716;NG_016475;NM_000926;NM_001202474;NM_001271161;NM_001271162;NR_073141;NR_073142;NR_073143;X51730 AAA60081;AAD01587;AAI52915;AAO61671;AAQ96833;AAQ96834;AAS00096;ABB72139;BAB91074;BAC06585;BAC11011;BAC11012;BAC11013;BAG65592;CAA36018;EAW66997;EAW66998;EAW66999;EAW67000;EAW67001;EAW67002;NP_000917;NP_001189403;NP_001258090;NP_001258091;P06401 Hs.32405;Hs.742403 1669876;1742533;1788342;1788344;1788346;1788348;1788350;2180483 G67471;G67472;G67473;G67474;G67475;GDB:197856;PGR;STS-X51730 NR3C3;PR OTTHUMP00000236114;OTTHUMP00000236115;OTTHUMP00000236117;OTTHUMP00000236119;nuclear receptor subfamily 3 group C member 3;progesterone receptor APPROVED protein-coding ENSG00000082175 8910 07077 264080;607311 REVIEWED 1351096 PGP phosphoglycolate phosphatase 16 16 16 p13.3 2476021 2479244 - 2201604 2204823 - 2261603 2264822 - 6480464;6907045 18640717;17038883;16344560;16160620;15661399;15260917;12477932;6273902;2164460;20091410;22990118;21139048;17088979;21861206;21963094 283871 A6NDG6;H3BV17 ABBA01030269;AC009065;AK026146;AMYH01007055;AMYH01007056;AW161386;BC002330;BC035985;CH471112;DA336356;NM_001042371 A6NDG6;AAI56306;AAI57036;EAW85534;NP_001035830 Hs.442634 1662992;1664128;1688514;1722265;1736574;1745955;1778320 AI481330;Bdac6f06;D16S2568E;G60043;RH98228;STS-W86181;WIAF-1628 MGC4692 PGPase;phosphoglycolate phosphatase protein-coding ENSG00000184207 8909 172280 VALIDATED 1348411 PGPEP1 pyroglutamyl-peptidase I Pyroglutamyl peptidase I (EC 3.4.19.3) catalyzes the hydrolysis of N-terminal pyroglutamyl residues from oligopeptides and proteins.[supplied by OMIM, Mar 2008] 19 19 19 p13.11 18353176 18382554 + 18312408 18341763 + 18451408 18480763 + 1580863;6480464 16344560;15380924;15014037;14702039;12651114;12477932;12030812;2575716;20889312;20379614 54858 M0QX66;M0R0B6;M0R0P6;M0R3H3;Q8IVT1;Q9NXJ5 ABBA01051258;AC008397;AJ278828;AK000215;AK025948;AK289968;AK294497;AMYH01009591;BC004942;BC028063;BC042138;CH471106;DA315740;NM_017712 AAH28063;AAH42138;BAA91015;BAF82657;BAG57716;CAC03610;EAW84690;EAW84691;EAW84692;NP_060182;Q9NXJ5 Hs.131776 1337280;1772264;5014063;5015861;5015879;5016478;5016596;5022578;5022651;5037552;5109281;7185938 A006Y23;D10S16;D11S2921;D15S1390;D19S898;D1S1423;D1S1425;D8S2279;GDB:314949;GDB:434012;GDB:631802 FLJ20208;MGC10812;PGP;PGP-I;PGPI;Pcp 5-oxoprolyl-peptidase;PAP-I;pyroglutamyl aminopeptidase I;pyroglutamyl-peptidase 1;pyrrolidone-carboxylate peptidase APPROVED protein-coding ENSG00000130517 13568 07141 610694 VALIDATED 3052652 PGPEP1L pyroglutamyl-peptidase I-like 15 15 15 q26.3 75928408 75967924 - 97329032 97366314 - 99511459 99551024 - 12477932;20379614 145814 A6NFU8;H0YF86 ABBA01020562;AC036108;AC069029;AK058162;AMYH01006962;AMYH01006963;AMYH01006964;BC104743;BC104744;BC105686;NM_001102612;NM_001167902 A6NFU8;NP_001096082;NP_001161374 Hs.592021 1765425 SHGC-148916 pyroglutamyl-peptidase 1-like protein protein-coding ENSG00000183571 27080 VALIDATED 1606322 PGS1 phosphatidylglycerophosphate synthase 1 17 17 17 q25.3 72968794 73014848 + 73886330 73932235 + 76374735 76420640 + 6480464;6907045 11256614;12477932;9880566;8125298;1538749;16169070;20877624;16751776;11171073;21890473;20686565 9489 B4DLU3;K7EJP6;K7EL44;K7ELT9;K7EPX0;K7EQ89;K7EQF5;K7ES71;Q32NB8 ABBA01002924;ABBA01002925;ABBA01002926;ABBA01002927;AC061992;AK024529;AK225030;AK296882;AK297156;AK307874;AK309890;AK316147;AK316405;AL359590;AMYH01008668;AMYH01008669;BC008903;BC015570;BC025951;BC035662;BC108732;CH471099;CR749720;DQ572622;NM_024419 AAH08903;AAH15570;AAH25951;AAH35662;AAI08733;ABM83739;ABM87058;BAB14921;BAG59443;BAG59655;BAH14518;BAH14776;CAB94876;CAH18487;EAW89524;EAW89525;NP_077733;Q32NB8 Hs.654671 1739177;1770338;5124339 D17S1637;RH18538;RH98785 DKFZp762M186;MGC131960 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial;PGP synthase 1 protein-coding ENSG00000087157 30029 17841 614942 PROVISIONAL 1344472 PHACTR2 phosphatase and actin regulator 2 6 6 6 q24.2 144669714 144892732 + 143971010 144194015 + 143929317 144152322 + 1303990;1580863;6480464;6483093;6483097;6483095 15107502;20546594;20590401;19429005 22704111;17474147;17113583;17081983;15146197;12477932;9734811;19913121;20628086;20379614;19322201;23108145;23128233;23251661 9749 F5H858;F6TH74;H9KVA6;J3KP75;Q5TFA0 AB014580;ABBA01025744;ABBA01025745;ABBA01025746;AK297799;AK298263;AK300221;AL049844;AL078593;AL357117;AL360228;AMYH01016722;AMYH01016723;BC150630;BC152416;CH471051;CN361694;CR749345;DC361499;DC381966;DN993504;DR004592;DR980875;NM_001100164;NM_001100165;NM_001100166;NM_014721 AAI50631;AAI52417;BAA31655;BAG60138;BAG60527;BAG61989;CAH18198;EAW47861;EAW47862;EAW47863;NP_001093634;NP_001093635;NP_001093636;NP_055536;O75167 Hs.102471 1652533;1707668;1723565;1762653;1780410;1849045;1854552;2118194;2118196;2133510;2150599;2152910;2179416 A006K01;AV158170;D6S1079;D6S2110;G20887;RH118604;RH35884;RH46767;SHGC-146452;SHGC-33367;SHGC-82001;STS-T98171;WIAF-1539 C6orf56;DKFZp686F18175;KIAA0680;MGC176642 OTTHUMP00000017336;OTTHUMP00000017338;OTTHUMP00000017339;OTTHUMP00000237229;OTTHUMP00000237230;phosphatase and actin regulator 2 protein-coding ENSG00000112419 20956 16378 608724 VALIDATED 733484 PGRMC1 progesterone receptor membrane component 1 This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010] X X q22-q24 118254291 118262457 + 118370211 118378429 + 1580863;6480464 18029348;18479732;17353931;9705155;12493773;19527514;19417032;19019335;18922159;18818748;18782852;21145461;22492871;18440126;18319313;18249431;17276356;17081983;16565220;16234411;15970648;15782218;15702432;15489334;15302935;14523988;12477932;11697142;21109987;20537145;21131300;17215244;19797399;20164297;20538600;20140262;21148105;21455559;22939629;22245528;21139048;21890473;21906983;19292867;21900206;21825115;21918976;21081644;23000965;23116217;23246001;22588913;23455922;22053931;22190034 10857 B7Z1L3;O00264;Q6IB11 ABBA01036706;AC004835;AJ249131;AK293618;AK313956;AMYH01022880;BC034238;CH471161;CR456993;CX762728;DQ496104;NG_016756;NM_006667;Y12711 AAH34238;ABF47093;ABM82700;ABM85884;BAG36672;BAH11549;CAA73248;CAB65109;CAG33274;EAW89879;EAW89880;EAW89881;EAW89882;NP_006658;O00264 Hs.90061 1851150;2133161;2185684;5092782;5106124 A006D23;G32326;PGRMC1;RH12552;RH70157 HPR6.6;MPR OTTHUMP00000023897;membrane-associated progesterone receptor component 1;progesterone binding protein APPROVED protein-coding ENSG00000101856 16090 02338 300435 REVIEWED 1351091 PHACTR4 phosphatase and actin regulator 4 This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 27091773 27222657 + 28568680 28699468 + 28696093 28826881 + 1303990;6480464 15107502 16344560;15302935;14702039;12925532;12477932;11483580;21832049;23080069;22863883;15840729;19322201;21139048;22145905;19531213 65979 Q9H6X0 AA973468;ABBA01035026;ABBA01035027;ABBA01035028;ABBA01035029;ABBA01035030;ABBA01035031;ABBA01035032;ABBA01035033;AF130081;AK023233;AK024663;AK025436;AL360012;AL670471;AL705720;AL840643;AMYH01000427;AMYH01000428;AMYH01000429;AMYH01000430;AMYH01000431;BC016152;BC021247;BC029266;BC068508;CH471059;CR391992;CR589951;CR749449;CR848752;DA586663;HI574268;HI574270;NM_001048183;NM_023923 AAG35507;AAH21247;AAH29266;AAH68508;ADZ15489;BAB14483;BAB15130;CAH18286;CBX47623;CBX47624;EAX07696;EAX07697;EAX07698;NP_001041648;NP_076412;Q8IZ21 Hs.225641 1339443;1651289;1683285;1689344;5015404;5015961;5016478;5016596;5020948;5022578;5037552;5109281 D15S1477;D1S1423;D1S1425;D1S511;D8S2279;G35510;GDB:434012;GDB:631802;L17705;RH17507;SHGC-1596;SHGC-74491 DKFZp686L07205;FLJ13171;MGC20618;MGC34186;RP11-442N24__A.1 OTTHUMP00000003648;OTTHUMP00000083481;phosphatase and actin regulator 4 APPROVED protein-coding ENSG00000204138 25793 07816 608726 REVIEWED 7241992 PHB2P1 prohibitin 2 pseudogene 1 645318 ABBA01063041;AL589948;AMYH01003055;NG_022190 2150454 G17465 pseudo 45249 INFERRED 1353173 PHACTR1 phosphatase and actin regulator 1 6 6 6 p24.1 13945879 14520501 + 12825819 13395507 + 12717037 13288075 + 1303990;1580863;6480464 15107502 19198609;17903296;15489334;14702039;14574404;12477932;11214970;22751097;22683712;22745674;20379614;20738937;20971364;21378988;21378990;16344560;18029348;22763476;21798305;21939755;21846871;22144573;23042660;20467438;23479725 221692 E9PD08;F8W882;H0Y3U1;H0Y518;H0Y7G2;J3KQF9;Q4VY12;Q4VY13;Q5R356;Q9C0D0 AA809685;AB051520;ABBA01022119;ABBA01022120;ABBA01022121;ABBA01022122;ABBA01022123;ABBA01022124;ABBA01022125;AK090769;AK290017;AK295263;AL008729;AL354680;AL391385;AL391837;AL591682;AMYH01016089;AMYH01016090;AMYH01016091;AMYH01016092;BC047159;BC067280;BC101526;BC101528;BF026507;BQ434462;CH471087;DA253448;DA330657;NM_001242648;NM_030948;Z99495 AAI01527;AAI01529;BAB21824;BAF82706;BAG52223;BAG58252;EAW55320;EAW55321;NP_001229577;NP_112210;Q9C0D0 Hs.436996 1334921;1336268;1338433;1649628;1664930;1701894;1702838;1716125;1718655;1719607;1728177;1731581;1746791;1748929;1763463;1771008;1777763;1785828;2123553;2146379;2151322;2152366;2154580;2165232;2182488;5015961;5020948;5037552 D15S1477;D15S176;D6S1006;D6S1077;D6S1263;D6S399;D8S2279;G27504;G35510;G63511;G64815;RH121027;RH123015;RH123708;RH46649;RH46685;RH46689;RH46775;SHGC-106172;SHGC-110582;SHGC-147170;SHGC-31295;SHGC-32584;UniSTS:98995;UniSTS:99607;WI-16124;WI-18016;WI-22489 KIAA1733;MGC126575;MGC126577;RPEL;RPEL1;dJ257A7.2 OTTHUMP00000016040;OTTHUMP00000016044;RPEL repeat containing 1;phosphatase and actin regulator 1 protein-coding 20990 12283 608723 VALIDATED 4889300 PHBP10 prohibitin pseudogene 10 X X 104366507 104367288 - 103891900 103892681 - 100418815 ABBA01019014;AL050401;AMYH01022810;NG_012566;NG_026746 pseudo 39289 INFERRED 4889281 PHBP11 prohibitin pseudogene 11 1 1 1 q41 197200195 197201000 - 222110904 222111784 - 224044284 224045089 - 644214 ABBA01008153;AC096542;AMYH01001762;NG_022754 pseudo 39290 INFERRED 4889343 PHBP12 prohibitin pseudogene 12 1 1 49532403 49533212 + 51246012 51246821 + 100418820 ABBA01074820;AC091610;AMYH01000610;NG_027089 1335275 D1S427 pseudo 39291 INFERRED 4889298 PHBP13 prohibitin pseudogene 13 13 13 16892054 16892824 + 35825200 35825970 + 100418843 ABBA01010168;AL357083;AMYH01005034;NG_024915;NG_028156 pseudo 39292 INFERRED 6481597 PHBP14 prohibitin pseudogene 14 4 168569581 168569947 + 100873751 ABBA01070321;AC068127;AMYH01014694;NG_032242 pseudo 39293 INFERRED 6481600 PHBP15 prohibitin pseudogene 15 7 74155796 74156460 - 100873752 ABBA01063881;AC083884;AC211433;AMYH01017552;NG_008179;NG_032243 pseudo 39294 INFERRED 1344857 PHBP1 prohibitin pseudogene 1 6 6 6 q25 151098265 151100082 + 150405215 150406338 + 150363622 150365439 + 8244394 5246 ABBA01025669;AL355497;AMYH01016740;L14273;NG_001171 pseudo 8913 INFERRED 1343040 PHBP2 prohibitin pseudogene 2 11 p11.2 43755309 43756114 + 8244394;8244394 100418837;5247 ABBA01060775;AC068205;AMYH01003520;NG_024480 pseudo 8914 INFERRED 1318787 PGRMC2 progesterone receptor membrane component 2 4 4 4 q26 126571320 126590911 - 129410745 129428400 - 129190392 129209984 - 1580863;6480464 9705155;19019335;18818748;17081983;15702432;15489334;14702039;12477932;16344560;19527514;8889548;20140262;20819778;22939629;21139048;21890473;22412018;23000965;23064006;22053931 10424 O15173;Q8NB07 ABBA01044814;AC096898;AJ002030;AK091741;AK094949;AK131272;AMYH01014512;AMYH01014513;BC016692;BC092478;BM699362;CH471056;DB046342;DQ496105;NM_006320 AAH16692;AAH92478;ABF47094;ABM84119;ABM84120;ABM84620;ABM87519;ABM87520;ABM87521;ABM87865;BAC03737;CAA05152;EAX05178;EAX05179;EAX05180;EAX05181;EAX05182;NP_006311;O15173 Hs.507910 1663312;1664613;1683405;1858484;2165004;2165006 A001W34;D4S3304;G19722;RH91160;SHGC-50187;STS-Z41404 DG6;PMBP OTTHUMP00000164481;membrane-associated progesterone receptor component 2;progesterone membrane binding protein;steroid receptor protein DG6 protein-coding ENSG00000164040 16089 09665 607735 VALIDATED 1349226 PHBP4 prohibitin pseudogene 4 2 q21 155143102 155143935 + 8244394;8244394 100418774;5249 ABBA01004813;AC009297;AMYH01011185;NG_023743 1848873 SGC30421 pseudo 8916 INFERRED 1351735 PHBP3 prohibitin pseudogene 3 1 1 p32.1 59237888 59238754 + 59465348 59466163 + 8244394;18397521;8244394 391044;5248 ABBA01074652;AC105277;AMYH01000658;NG_022781 pseudo 8915 INFERRED 4889244 PHBP7 prohibitin pseudogene 7 9 9 9 q21 59085692 59087060 + 87703722 87704556 + 88513746 88515114 + 548599 ABBA01034046;AL353743;AMYH01021472;NG_005066 pseudo 39286 INFERRED 4889299 PHBP8 prohibitin pseudogene 8 3 3 117919778 117920500 + 119510676 119511397 + 100418804 ABBA01061576;AC069444;AMYH01013419;NG_025728 1658764;2138608;2143418;2191669;5092682 A005P48;G32262;MARC_4339-4340:996679552:1;SHGC-77233;STS-T26531 pseudo 39287 INFERRED 4889273 PHBP9 prohibitin pseudogene 9 10 10 q24.31 95745997 95746777 + 102007952 102008981 + 100289414 ABBA01063229;AL138921;AMYH01002997;NG_028967 1706060;1857576;2186054;2191669 MARC_4339-4340:996679552:1;RH66207;SHGC-30533;SHGC-80065 FLJ30751 pseudo 39288 INFERRED 1605886 PHACTR3 phosphatase and actin regulator 3 This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q13.32-q13.33 54920349 55163467 + 57612998 57856161 + 58152564 58422766 + 6480464 21487013;19158953;16974080;15489334;15231748;15107502;14702039;12925532;12477932;11780052;16169070;19913121;20628086;19473719;20379614;22491018;21900206;22321011;22135045 116154 F6RP66;Q96KR7 AB098521;AB098522;ABBA01005958;ABBA01005959;ABBA01005960;ABBA01005961;AJ311122;AJ617581;AK090812;AK091632;AK098788;AK295459;AK314493;AK316047;AL121908;AL357503;AMYH01012027;AMYH01012028;BC036834;BC108303;BC117362;BC117364;CH471077;NG_029537;NM_001199505;NM_001199506;NM_001281507;NM_080672;NM_183244;NM_183246 AAI08304;AAI17363;AAI17365;ADR83040;BAC82348;BAC82349;BAG37093;BAG52395;BAH12075;BAH14418;CAC67489;CAF04087;EAW75428;EAW75429;EAW75430;NP_001186434;NP_001186435;NP_001268436;NP_542403;NP_899067;NP_899069;Q96KR7 Hs.473218 1663130;1667171;1705186;1749021;1769346;1848356;1849079;1849081;2136333;2164590;2177167 146;A005Z17;D20S124E;D20S592E;G18086;G20620;RH12475;SHGC-110661;SHGC-80044;Z94463;Z94500 C20orf101;H17739;MGC117178;SCAPIN1;SCAPININ OTTHUMP00000031424;OTTHUMP00000031425;OTTHUMP00000031426;OTTHUMP00000174466;OTTHUMP00000174467;phosphatase and actin regulator 3;phosphatase and actin regulator 3, isoform 1;scaffold-associated PP1 inhibiting protein;scaffold-associated PP1-inhibiting protein APPROVED protein-coding ENSG00000087495 15833 10571 608725 REVIEWED 2299189 PHC1P1 polyhomeotic homolog 1 (Drosophila) pseudogene 1 12 12 12 q13.2 55457426 55467831 - 54089725 54095114 - 55803470 55808727 - 653441 ABBA01008383;AC125816;AMYH01004492;NG_009754 1685035 RH104 PHC1B APPROVED pseudo 34502 INFERRED 1346002 PHAX phosphorylated adaptor for RNA export 5 5 5 q23.2 121893253 121919561 + 125964532 125988979 + 125936607 125962944 + 6480464 8125298;15130578;11333016;15574333;15574332;15489334;14702039;12477932;10786834;21145461;16687569;20430857;22863883;22990118;22939629;21900206;19471022;21139048;21693764;21628590 51808 B4DPU2;Q9H814 ABBA01068900;ABBA01068901;ABBA01068902;AC099513;AF086448;AK023255;AK024065;AK225464;AK298497;AMYH01015600;BC021161;CH471086;CR457305;N44678;NM_032177 AAH21161;ABM84139;ABM87541;BAB14489;BAB14809;BAG60704;CAG33586;EAW48850;NP_115553;Q9H814 Hs.555731;Hs.744042 1698688;1711420;2150002;5016478;5020946;5022450;5126725 A008R20;D10S275;G42194;GDB:434012;L17971;RH102904;SHGC-57751 FLJ13193;RNUXA OTTHUMP00000159192;RNA U small nuclear RNA export adapter protein;RNA U, small nuclear RNA export adapter (phosphorylation regulated);RNA U, small nuclear RNA export adaptor (phosphorylation regulated);phosphorylated adapter RNA export protein protein-coding ENSG00000164902 10241 15122 604924 VALIDATED 6481408 PHEX-AS1 PHEX antisense RNA 1 X 22180849 22191100 - 14702039 100873942 ABBA01072045;AK095185;AMYH01022142;NR_046639;R45441;Y10196 Hs.633194 1778599 WI-13816 APPROVED miscrna ENSG00000224204 40445 VALIDATED 1319414 PHC1 polyhomeotic homolog 1 (Drosophila) This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008] 12 12 12 p13 10604723 10631471 + 8958583 8985330 + 9067316 9094063 + 1580863;6480464 9121482;18029348;18650381;15489334;15386022;15146197;12477932;12167701;10902910;9199346;16189514;10653359;12183370;9009205;14973489;15563468;16169070;19636380;23080069;23207902;22325352;22321011;19322201 1911 F5GX30;F5GZP4;F5H0T9;F5H6F5;F5H6F9;F5H6P9;H0YGK7;H0YGZ1;H0YH74;J3KQH6;P78364;Q6GMQ3;Q6N083 AB018192;AB018193;AB209063;ABBA01012255;ABBA01012256;ABBA01012257;AC006581;AK293893;AMYH01004243;BC002871;BC017748;BC073964;BC157850;BM473731;BX640639;CH471116;CN388283;CN388285;CN388316;NM_004426;U89277 AAC51169;AAH02871;AAH17748;AAH73964;AAI57851;BAA83727;BAD92300;BAG57282;CAE45787;EAW88600;EAW88601;NP_004417;P78364 Hs.305985 1685035;2153235;5095716;5111943 G27371;G43249;G59818;RH104 EDR1;HPH1;RAE28 OTTHUMP00000238481;OTTHUMP00000238482;OTTHUMP00000238483;Rae28-like;early development regulator 1 (homolog of polyhomeotic 1);early development regulatory protein 1;polyhomeotic 1-like;polyhomeotic-like 1;polyhomeotic-like protein 1 APPROVED protein-coding ENSG00000111752 3182 16009 602978 REVIEWED 736948 PHB prohibitin This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 q21 44836419 44847241 - 47481420 47492242 - 1580863;2292398;2292409;2292405;2292382;2292403;2292404;2292408;2292406;2292396;2292410;2292402;2292407;6480464;7240710 16426920;17518533;11377649;18384941;12821355;12376462;1540973;10421803;17465217;17043753;14652295;8062216 11302691;14500729;12566959;12466959;16130169;15274632;19591124;19327358;19238206;19207009;19071013;19034380;18789835;18763282;18709484;18676680;18494604;18397521;18258228;18183577;18086671;17932104;17873902;17544200;17284347;17081983;17004108;16964284;16951178;16918502;16705168;16381901;16294014;16236267;16041367;15823758;15614618;15489336;15489334;15378209;15250827;15141164;14637159;14500355;12628297;12477932;12354477;12085232;12065415;11790298;11517187;11076863;10523633;10376528;9629920;8706794;8612677;8591812;8244394;8125298;7843414;7607556;1684951;1602151;22363587;21296110;21145461;21319273;22324369;21061155;20186755;11256614;16319068;18029348;19170196;19430483;19615732;19625176;19640993;19692168;19710421;19725029;19725052;19854158;19906925;20133800;20195544;19454010;20562859;20596663;19664078;20516557;20877624;16226712;18487222;20069396;20856874;20638487;20830747;21209023;17324931;21152868;21318481;22997079;22124450;22505583;21275458;21155232;22939629;16196087;15047060;20186120;20360068;21081666;21879722;21896168;21139048;21890473;21906983;22238093;18781797;20134482;21783252;15342556;23798571;23870455;7796893;8401585;8889548;22179832;21903368;22537547;20301425;22536838;22669161;23098474;22711522;22304787;17203973;19738201;19805454;20195357;20391533;20462248;21963094;22304920;22410782;22623428;22904065;23000965;23246001;23275444;22994754;23244120;23587357;22212092;23327602;23455922;23752268;17676665;19655254;21853274;22190034 5245 A8K401;B4DY47;C9JW96;C9JZ20;D6RBK0;E7ESE2;E9PCW0;P35232 AA357151;AA709387;ABBA01041207;AC091180;AK223181;AK290766;AK302258;AK307767;AK312649;AMYH01008467;AY577780;BC013401;BC095460;BE729762;BF038604;BG029858;BI871461;BM972128;BP267961;BQ574485;BT007411;CH471109;CR541706;CS415664;CX784018;DC360133;L14272;NG_023046;NM_001281496;NM_001281497;NM_001281715;NM_002634;S85655;U17179;U49725 AAA86691;AAB21614;AAH13401;AAH95460;AAO18340;AAP36079;AAS88903;BAD96901;BAF83455;BAG35532;BAG63609;CAG46507;CAL38496;CAL48156;EAW94680;EAW94681;NP_001268425;NP_001268426;NP_001268644;NP_002625;P35232 Hs.514303 1687696;2180234;5037352;5121451 D17S895E;RH11580;RH91824;SHGC-32028 PHB1 OTTHUMP00000165764;OTTHUMP00000165765;OTTHUMP00000165766;OTTHUMP00000220103;OTTHUMP00000220170;OTTHUMP00000220171;prohibitin APPROVED protein-coding ENSG00000167085 8912 01454 114480;176705 REVIEWED 1604641 PHB2 prohibitin 2 12 12 p13 6944778 6950152 - 7074515 7079916 - 5128512;5130718;6480464 16394250;16822624 11302691;19117054;18629613;18086671;17932104;17785450;17656096;17453341;17008324;16541075;15592455;15489334;15231747;15140878;12943695;12477932;10938099;10931946;9259555;9074930;8723724;17353931;10359819;21319273;15173318;19640993;19906925;20562859;20877624;19454010;20856874;23182705;23275444;17500595;18255255;22939629;22990118;17558393;19167051;20186120;22384121;18457437;20360068;21081666;21987572;21139048;21890473;21906983;22536838;18029348;22212092;23455922;19738201;19805454;21963094;21988832;22304920;22623428;22751105;22904065;23000965;23246001;23392257;23548868;17203973;19496786;21853274;22190034 11331 B4DW05;F5GWA7;F5GY37;F5H0C5;F5H0S4;F5H2D2;F5H3X6;J3KPX7;Q99623 ABBA01017670;AF126021;AF150962;AF178980;AF279895;AK298217;AK301316;AMYH01004212;BC013228;BC014766;BC110322;CH471116;NM_001144831;NM_001267700;U47924;U72511 AAB51324;AAC51639;AAD38042;AAF17231;AAF44345;AAH14766;AAI10323;AAK07552;ABM82734;ABW03427;BAG60487;BAG62867;EAW88699;NP_001138303;NP_001254629;Q99623 Hs.504620 1660274;1665703;1701546;2115154;2191659;2217904 D12S1201E;G07372;MARC_4161-4162:996679469:1;REA_2769;RH104406;RH114 BAP;BCAP37;Bap37;MGC117268;PNAS-141;REA;p22 B-cell associated protein;B-cell receptor-associated protein BAP37;D-prohibitin;OTTHUMP00000238920;OTTHUMP00000239843;prohibitin-2;repressor of estrogen receptor activity protein-coding ENSG00000215021 30306 17843 610704 VALIDATED 1354183 PHF10P1 PHD finger protein 10 pseudogene 1 X X X q28 154679675 154681342 + 154174358 154176025 + 154521164 154522831 + 11827455 158905 ABBA01029138;AC234781;AF338734;AL356738;AMYH01023323;NG_012497;NG_029355 XAP135P pseudo 23210 INFERRED 733664 PHEX phosphate regulating endopeptidase homolog, X-linked The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. [provided by RefSeq, Jul 2008] X X p22.2-p22.1 21960842 22176399 + 22050921 22266478 + 1580863;6480464;7240710 9593714;9070861;7550339;19219621;18660670;18625346;18455459;18252791;18214537;18172553;18162710;18046499;17406123;16437029;16055933;15940367;15896324;15772651;15489334;15337762;15268897;15057978;12874285;12791601;12678920;12477932;11409890;11004247;10737991;10620182;10460513;10439971;10069185;9768674;9768646;9199999;9199930;9106524;9097956;9077527;8889548;2163973;21293852;20817730;19513579;20424473;20664300;21326311;20835608;21050253;21553362;21902834;18067320;22577109;21902707;21826652;22610502;22713460;22889924;22319799;23079138;22695891 5251 B4DWG8;B4E334;F5GXU4;P78562 ABBA01072032;ABBA01072033;ABBA01072034;ABBA01072035;ABBA01072036;ABBA01072037;ABBA01072038;ABBA01072039;ABBA01072040;ABBA01072041;ABBA01072042;ABBA01072043;ABBA01072044;ABBA01072045;ABBA01072046;ABBA01072047;ABBA01072048;ABBA01072049;ABBA01072050;ABBA01072051;ABBA01072052;ABBA01072053;AD000712;AK298030;AK301528;AK304551;AMYH01022142;BC105057;BC105059;BU680665;CH471074;HI574100;NG_007563;NM_000444;U60475;U73024;U75645;U82970;U87284;Y08111;Y10196 AAB47562;AAB47749;AAB51604;AAC24487;AAC50552;AAD08630;AAI05058;AAI05060;BAG60332;BAG63030;BAG65346;CAA69326;CAA71258;CBX47539;EAW98987;NP_000435;P78562 Hs.495834 1672879;1677288;1702182;1702782;1778599;7184829 DXS1314;DXS1464;DXS7759;RH80232;WI-13816 HPDR;HPDR1;HYP;HYP1;LXHR;PEX;XLH OTTHUMP00000023051;X-linked hypophosphatemia protein;metalloendopeptidase homolog PEX;phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets);phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets);phosphate regulating gene with homologies to endopeptidases on the x chromosome;phosphate-regulating neutral endopeptidase;vitamin D-resistant hypophosphatemic rickets protein APPROVED protein-coding ENSG00000102174 8918 02387 300550;307800 REVIEWED 1317513 PHC3 polyhomeotic homolog 3 (Drosophila) 3 3 3 q26.2 168204684 168298819 - 171288062 171382231 - 169805368 169899537 - 1580863;6480464 17081983;17001316;16565220;15489334;15342556;15302935;14702039;12477932;12384788;12167701;20491773;19636380;18029348;22325352;19471022;22724443 80012 B4DTC4;C9J6H0;C9J6P8;C9JAU4;C9JYH7;E7EX82;F8WDA4;G5E9U7;H7C4H9;H7C528;Q9H9I4 ABBA01058692;ABBA01058693;ABBA01058694;ABBA01058695;ABBA01058696;AC008040;AC023891;AF380154;AF444193;AI042019;AJ320486;AK022791;AK023029;AK300151;AK304411;AMYH01013642;BC022325;BC026001;BC070164;BC112944;BC131772;BC131773;BP200133;BX647868;CH471052;EF560717;NM_024947 AAH22325;AAH70164;AAI31773;AAM46139;AAM51781;ABQ59027;ACE87823;ACT64381;BAB14245;BAB14365;BAG61936;BAG65243;CAC86587;CAI46090;EAW78516;EAW78517;EAW78518;EAW78519;EAW78520;EAW78521;EAW78522;EAW78523;NP_079223;Q8NDX5 Hs.529592;Hs.694467 1654020;1754663;1769149;2116500;2152892;2173684;2187442;2217740;5015959;5037554 D10S2448;D8S2282;PHC3_3678;RH36479;RH48268;SHGC-133019;SHGC-59931;SHGC-60175;STS-N62444;STS-Z40983 DKFZp313K1221;EDR3;FLJ12729;FLJ12967;HPH3;MGC88144 OTTHUMP00000213462;OTTHUMP00000213464;OTTHUMP00000213468;early development regulator 3;early development regulatory protein 3;homolog of polyhomeotic 3;polyhomeotic like 3;polyhomeotic like 3 (drosophila);polyhomeotic-like protein 3 protein-coding 15682 10149 VALIDATED 1317380 PHC2 polyhomeotic homolog 2 (Drosophila) In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 32060914 32112987 - 33561811 33613781 - 33789224 33841194 - 1580863;6480464 15094067;14702039;12477932;12384788;12167701;10976766;9199346;9121482;15563468;15302935;16169070;16710414;16189514;15489334;15386022;16713569;20379614;16751658;20471960;19636380;21675959;21906983;21900206;22325352;18029348 1912 B3KPJ4;C9J3D2;Q8TAG8 ABBA01023378;ABBA01023379;AJ242730;AJ419231;AK056429;AK128821;AK292905;AK294426;AL513327;AMYH01000480;AMYH01000481;BC015450;BC018602;BC028396;BC029269;BC068573;BC092492;BC110863;BC130630;BC144121;CA949539;CD109667;CH471059;NM_004427;NM_198040;U89278 AAC51170;AAH15450;AAH28396;AAH29269;AAH68573;AAH92492;AAI10864;AAI30631;AAI44122;BAC87622;BAF85594;BAG51706;BAG57672;CAB44779;CAD11673;EAX07457;EAX07458;EAX07459;EAX07460;EAX07461;EAX07462;NP_004418;NP_932157;Q8IXK0 Hs.524271 1712148;2122828;2170064 D1S3530;G54124;SHGC-35991 EDR2;HPH2;MGC163502;PH2 OTTHUMP00000004292;OTTHUMP00000004293;OTTHUMP00000004294;early development regulator 2 (homolog of polyhomeotic 2);early development regulator 2-like;early development regulatory protein 2;polyhomeotic 2;polyhomeotic-like 2;polyhomeotic-like 2 (drosophila);polyhomeotic-like protein 2 APPROVED protein-coding ENSG00000134686 3183 10340 602979 REVIEWED 1344150 PHF1 PHD finger protein 1 This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 6 6 6 p21.3 34933196 34938653 + 33486772 33492194 + 33378773 33384230 + 1580863;6480464 9545646;19204726;18722875;18385154;18285464;18086877;16344560;16189514;15489334;14574404;12477932;11571280;8889548;8125298;19851445;21167174;23104054;23142980;23150668;22315224;21890473;19322201;22918161;15576338;23228662;23211293;22796436 5252 A2AB22;A2AB23;A2AB25;E9PQT8;E9PQZ5;O43189 ABBA01038148;AF029678;AF052205;AK225913;AK295412;AK299162;AK316499;AL021366;AL050332;AL662799;AMYH01016245;BC008834;BX088650;CB242267;CH471081;DA065298;DA872118;NM_002636;NM_024165;NR_027692 AAC13273;AAC52062;AAH08834;ABM87418;ABW03882;BAG58363;BAG61210;BAH14870;CAA16158;CAA16159;CAC38366;CAC38367;EAX03729;EAX03730;NP_002627;NP_077084;O43189 Hs.166204 1695020;1851236;1853518;2107497;2123248;2126620;2128792;2178560;2191733;5017797 D6S1834;G44723;MARC_5865-5866:996691399:1;PHF1;PHF1__6984;RH1523;RH15807;STS-D14678;STS-Z40841;STS-Z41506 MTF2L2;PCL1;PHF2;TDRD19C;hPHF1 OTTHUMP00000029139;OTTHUMP00000029140;OTTHUMP00000178725;OTTHUMP00000233814;PHD finger protein 1;hPCl1;polycomb-like protein 1;tudor domain containing 19C APPROVED protein-coding ENSG00000112511 8919 04195 602881 REVIEWED 1321995 PHF11 PHD finger protein 11 13 13 q14.2 48967802 49001118 + 50069801 50103117 + 1580863;6480464;7240710 19386584;19264973;19258923;19247692;19237393;18405956;17703412;17702965;16344560;15674390;15489334;12754510;12477932;10508479;8125298;20421878;20701904;20716621;19590686;19672052;19951440;19996348;20085599;20503287;20717939;21348951;21320718;15057823 51131 C9JQV2;C9JWH0;H0Y4X7;J3KR57;Q9UIL8 AB011031;ABBA01051017;ABBA01051018;ABBA01051019;AF155105;AK026228;AK225986;AK293242;AK300410;AL139321;AMYH01005108;BC017212;BE621153;CH471075;DA652444;DB050568;NM_001040443;NM_001040444 AAD42871;AAH17212;ABM82884;ABM86074;BAA32101;BAG56776;BAG62140;EAX08827;EAX08828;NP_001035533;NP_001035534;Q9UIL8 Hs.369039 1663729;2122866;2150129;2159897;2161094;2219494;5015619 D11S3114;G09507;PHF11__PHF11;SHGC-34033;SHGC-34145;STS-AA039375;STS-R48791 APY;BCAP;IGEL;IGER;IGHER;NY-REN-34;NYREN34;RP11-185C18.3 BRCA1 C-terminus-associated protein;IgE responsiveness (atopic);NY-REN-34 antigen;OTTHUMP00000018414;OTTHUMP00000018415;OTTHUMP00000018416;OTTHUMP00000215009;OTTHUMP00000215010;PHD finger protein 11;renal carcinoma antigen NY-REN-34 protein-coding ENSG00000136147 17024 147050;600807;607796 VALIDATED 1317748 PHF13 PHD finger protein 13 1 1 1 p36.31 5787615 5797954 + 6596332 6606643 + 6673756 6684093 + 1580863;6480464 16344560;15825179;15489334;14702039;12477932;19638409;17207965 148479 Q86YI8 AB209544;ABBA01035458;ABBA01035459;AK027492;AK097715;AK315110;AL031447;AL121733;AMYH01000217;AY069975;BC007931;BC032792;BC038516;BC048202;CH471130;DB064673;NM_153812 AAH32792;AAH38516;AAL58478;ADQ32511;BAD92781;BAG37568;BAG53519;CAB57324;EAW71561;NP_722519;Q86YI8 Hs.516079 2170020 SHGC-150 MGC43399;PHF5;SPOC1 OTTHUMP00000001577;PHD finger protein 13;PHD zinc finger protein PHF5;survival time-associated PHD finger protein in ovarian cancer 1;survival time-associated PHD protein in ovarian cancer protein-coding ENSG00000116273 22983 10150 VALIDATED 1313935 PHF12 PHD finger protein 12 17 17 17 q11.2 24091687 24137902 - 24256397 24302634 - 27232271 27278508 - 1580863;6480464 16565220;12391155;16893883;19553677;20332121;11390640;15489334;15302935;14702039;12477932;10819331;17573780;21440557;18029348;22990118;21890473 57649 C9J9G2;J3QQU3;K7EJ43;K7EJN7;K7EJY3;K7EMX6;K7ENU0;K7EPF7;K7EQP5;K7ERZ4;Q2TAK2;Q96QT6 AB040956;ABBA01015036;ABBA01015037;AC024267;AK024290;AK091441;AK160370;AK291420;AK294056;AL161953;AMYH01008285;AY030283;BC001657;BC110882;BC121043;BC121044;CH471159;NM_001033561;NM_020889 AAH01657;AAI10883;AAI21044;AAI21045;AAK38349;BAA96047;BAB14875;BAD18713;BAF84109;BAG57403;EAW51164;EAW51165;EAW51166;EAW51167;NP_001028733;NP_065940;Q96QT6 Hs.444173 1676702;1720097;1762585;2191035;2219496;5015861;5016352;7185938 D10S16;L30021;MARC_13669-13670:1002900020:1;PHF12__5678;RH123790;RH41955;SHGC-146385 FLJ34122;KIAA1523;MGC131914;PF1 OTTHUMP00000163517;OTTHUMP00000163518;PHD factor 1;PHD finger protein 12;PHD zinc finger transcription factor protein-coding ENSG00000109118 20816 15123 VALIDATED 1319333 PHF15 PHD finger protein 15 5 5 5 q31.1 129987691 130044831 + 133889697 133946817 + 133861798 133918918 + 1580863;6480464 16916647;15489334;14702039;14612400;12693554;12477932;9039502;20211142;21102462;20936779;16387653;23281010 23338 B3KPL2;B5MBX1;C9J929;D3DQA3;D6R9B8;G3XAA4;H7C0P2;Q9NQC1 ABBA01068756;ABBA01068757;AC005355;AC106763;AJ251833;AK025001;AK056471;AK074123;AK290471;AK292635;AK294327;AMYH01015625;AMYH01015626;BC004292;BC009307;BC021169;BC021962;BN000288;CH471062;D87076;NM_015288 AAH04292;AAH09307;AAH21962;ABZ92311;BAA13245;BAB84949;BAF83160;BAF85324;BAG51724;BAG57599;CAB94935;CAE30501;EAW62252;EAW62253;EAW62254;EAW62255;EAW62256;NP_056103;Q9NQC1 Hs.732155 1682603;1740427;1848722;2122134;2219498 D11S4698;D5S2238E;PHF15__5680;RH27043;RH71447 JADE2;KIAA0239 OTTHUMP00000159385;OTTHUMP00000159386;OTTHUMP00000159387;OTTHUMP00000197617;protein Jade-2 protein-coding ENSG00000043143 22984 15124 610515 PROVISIONAL 1313192 PHF10 PHD finger protein 10 This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008] 6 6 6 q27 170814186 170834281 - 169845926 169865909 - 170104001 170124106 - 6480464 17081983;16189514;15489334;15302935;14702039;14574404;12477932;11827455;9110174;8908511;8619474;8125298;16169070;20068294;20530714;22939629;20360068;19471022;20305087;21693764;21890473;21980299;22334708;18654987;21988832;23000965;23400010 55274 Q8WUB8 ABBA01016118;AF338735;AJ420510;AK001837;AK222612;AK296349;AL133094;AL513547;AMYH01016878;BC020954;BC110323;CH471051;CR457273;DB460742;KC839988;KC839989;NM_018288;NM_133325 AAH20954;AAI10324;AAK27451;ABM82358;ABM85533;AGQ46690;AGQ46691;BAA91934;BAD96332;BAG59032;CAG33554;EAW47442;EAW47443;EAW47444;NP_060758;NP_579866;Q8WUB8 Hs.435933 1684216;1769969;1772777;2130036;2130038;2138236;2151082;2156282 A001W43;D6S1117E;D6S1237E;D6S1902;G19729;RH35932;RH36593;RH93665 BAF45A;FLJ10975;MGC111009;XAP135 BRG1-associated factor 45a;BRG1-associated factor, 45-KD, A;OTTHUMP00000211095;OTTHUMP00000211096;PHD finger protein 10;PHD finger protein 10, isoform a;PHD zinc finger protein XAP135 APPROVED protein-coding ENSG00000130024 18250 11428 613069 REVIEWED 1349780 PHF14 PHD finger protein 14 7 7 7 p21.3 10988278 11184064 + 10980041 11175770 + 11013499 11209250 + 1580863;6480464 17081983;16341674;15302935;14702039;12477932;9872452;9847074;11329013;16344560;17158748;20211142;19471022;21139048;21693764;21890473 9678 B4DG57;E5RHD5;O94880 AA699404;AA837024;AACC02000009;AB018326;ABBA01056552;ABBA01056553;ABBA01056554;ABBA01056555;ABBA01056556;ABBA01056557;AC005007;AC007029;AC080064;AC104089;AK123522;AK294419;AK295461;AMYH01017072;BC104657;BC152414;BG182843;BG203538;BM741266;BM773384;BM834437;CH236948;CH471073;DB359297;NM_014660;NR_033435;NR_033436 AAI52415;BAA34503;BAG57668;BAG58394;EAW93633;EAW93634;EAW93635;EAW93636;NP_055475;O94880 Hs.655688 1665877;1679399;1700900;1716423;1752853;1852119;2126150;2144524;5015961;5017547;5037552 D15S1477;D8S2279;GDB:1317854;PHF14;RH104077;RH121392;RH66124;RH91940;SHGC-106709;SHGC-55963;SHGC-55967 MGC176640 OTTHUMP00000197428;PHD finger protein 14 protein-coding 22203 17845 VALIDATED 1321268 PHF19 PHD finger protein 19 9 9 9 q33.2 94266198 94288032 - 122657752 122679427 - 123617931 123639606 - 6480464 16341674;15563832;14702039;12477932;21383967;17207965;21143197;23160351;22487681;22315224;23455924;23228662 26147 B0QZ50;B0QZ51;B0QZ72;B3KV88;F5H8K3;Q5T6S3 AA743545;ABBA01016241;ABBA01016242;AK122744;AK302996;AK303433;AL117477;AL161911;AL354792;AMYH01021688;AMYH01021689;AMYH01021690;BC022374;BC044224;BC108663;BC125076;BC125077;BM784790;BX640713;CH471090;NM_001009936;NM_015651 AAH22374;AAI08664;AAI25077;AAI25078;ADQ32204;BAG53700;BAH13873;BAH13959;CAB55950;CAE45832;EAW87475;EAW87476;EAW87477;EAW87478;NP_001009936;NP_056466;Q5T6S3 Hs.460124 1729888;1738283;2109647;2148227 D9S116;D9S317;PHF19_9466;SHGC-32814 MGC131698;MGC149712;MGC149713;MGC23929;MTF2L1;PCL3;TDRD19B OTTHUMP00000021996;OTTHUMP00000021998;OTTHUMP00000021999;OTTHUMP00000197611;PHD finger protein 19;hPCL3;polycomb like 3;polycomb-like 3;polycomb-like protein 3;tudor domain containing 19B protein-coding ENSG00000119403 24566 17846 609740 VALIDATED 1344107 PHF16 PHD finger protein 16 This gene is part of a gene cluster on chromosome Xp11.23. The encoded protein contains a zinc finger motif often found in transcriptional regulators, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] X X X p11.23 50964282 51112586 + 46656680 46805585 + 46771736 46920641 + 1304513;1580863;6480464 11944989 16387653;18029348;17081983;16344560;15772651;15489334;15302935;14612400;12477932;10775800;9039502;23281010;19322201 9767 F2Z2B6;F2Z3N8;Q92613 ABBA01052277;ABBA01052278;ABBA01052279;ABBA01052280;ABBA01052281;ABBA01052282;ABBA01052283;ABBA01052284;ABBA01052285;ABBA01052286;ABBA01052287;ABBA01052288;ABBA01052289;ABBA01052290;AF127774;AK291220;AL627143;AMYH01022253;AMYH01022254;AMYH01022255;AMYH01022256;BC113880;BC114487;BN000289;CH471164;D86969;DB063092;NG_013324;NM_001077445;NM_014735;Z83822 AAD51905;AAI13881;AAI14488;BAA13205;BAF83909;CAE30502;EAW59277;EAW59278;NP_001070913;NP_055550;Q92613 Hs.371977 1678887;1691592;1702074;1776556;2157721;2163673;2168643;2168645;2219500 AL023934;AL032568;DXS1266;DXS7880;PHF16__5681;RH35955;RH92012;SHGC-33343;WI-14908 JADE3;KIAA0215;MGC138748;MGC138749 OTTHUMP00000023190;protein Jade-3 APPROVED protein-coding ENSG00000102221 22982 06675 300618 REVIEWED 1313130 PHF2 PHD finger protein 2 This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008] 9 9 9 q22.31 66780357 66883454 + 95378730 95481690 + 96338909 96441869 + 6480464 10051327;18990233;12477932;12168954;9734811;20129925;21167174;18029348;20379614;22294699;21139048;20953165;21890473 5253 E7ET14;O75151 AB014562;ABBA01017681;AF043725;AK294861;AL353629;AL359181;AL834263;AMYH01021516;BC028051;BC050112;BC064613;BC152437;BQ716020;BU507256;CB990295;CH471089;NM_005392 AAD21791;AAH28051;AAH64613;AAI72253;AAI72560;BAA31637;BAG57965;CAD38938;EAW62867;EAW62868;EAW62869;EAW62870;EAW62871;NP_005383;O75151 Hs.211441 1676372;1722249;1728867;1758569;1762141;1779854;2153624 G54542;G60031;RH44280;RH65301;SHGC-146039;SHGC-148780;SHGC-153852 CENP-35;GRC5;JHDM1E;KIAA0662;MGC176680 OTTHUMP00000021685;PHD finger protein 2;centromere protein 35;jumonji C domain-containing histone demethylase 1E;lysine-specific demethylase PHF2 APPROVED protein-coding ENSG00000197724 8920 05071 604351 REVIEWED 4109982 PHF2P1 PHD finger protein 2 pseudogene 1 13 13 13 q11 682184 754323 - 18518293 18590423 - 19620293 19692423 - 266695 AL137001;AL832753;NR_002801 Hs.742132 1644289;1700906;1737405;1748439 D13S982;G64220;L18228;RH104080 DKFZp686A1627 pseudo 30241 6481555 PHF2P2 PHD finger protein 2 pseudogene 2 13 19520864 19527032 - 100873793 ABBA01068542;AL355516;AMYH01004934;NG_032221 pseudo 38808 INFERRED 1606010 PHF20L1 PHD finger protein 20-like 1 8 8 8 q24.22 129963424 130036873 + 133856786 133930234 + 133787604 133861052 + 6480464 20479123;16344560;14702039;12477932;10810093;21832049;23314748;21906983;20360068;22505724 51105 A8MUE8;A8MXR8;D3YTE1;E5RK91;E9PM57;F8W9L8;G5E9D0;H0YC05;H0YDF7;J3KPS5;Q9H8G4;Q9Y381 ABBA01014204;ABBA01014205;AF151830;AF228727;AF230666;AI913146;AK022280;AK023711;AK025268;AK057961;AK126085;AK290506;AL538135;AMYH01019037;AW014677;AY279109;BC002822;BC015211;BC036953;BC050655;BC056413;BC144654;BF243139;BQ006054;BU195139;BX641040;C15953;CD557358;CH471060;DA196349;DB498348;NM_001277196;NM_016018;NM_032205;NM_198513 A8MW92;AAD34067;AAH15211;AAH50655;AAH56413;AAI56242;AAI57018;AAP33690;BAB14653;BAB15098;BAF83195;BAG54287;EAW92148;EAW92149;EAW92150;EAW92151;EAW92152;EAW92153;EAW92154;NP_001264125;NP_057102;NP_115581;NP_940915 Hs.304362 1655161;1658984;1667782;1676684;1677852;1688144;1690129;1709832;1755105;1777520;2137116;5016478;5017326;5037552;5109281 D1S1425;D8S2279;D8S377;G32202;GDB:434012;RH81044;RH91375;RH98327;RH99088;SHGC-142036;SHGC-32596;SHGC-57992;SHGC-84736;STS-Z78320;WI-21611 CGI-72;MGC64923;TDRD20B OTTHUMP00000192870;OTTHUMP00000192871;OTTHUMP00000192872;OTTHUMP00000192874;OTTHUMP00000192875;OTTHUMP00000192876;OTTHUMP00000192877;OTTHUMP00000227156;PHD finger protein 20-like protein 1;tudor domain containing 20B;tudor domain-containing protein PHF20L1 protein-coding ENSG00000129292 24280 15125 VALIDATED 1348069 PHF4 PHD finger protein 4 50609 8922 1315809 PHF17 PHD finger protein 17 4 4 4 q26-q27 127112780 127178419 + 129950229 130015829 + 129730779 129796379 + 6480464 22516360;22654112;12169691;17081983;16713569;16387653;16046545;15815621;15502158;15489334;14702039;14612400;12477932;11347906;18029348;14973063;18684714;18806787;19187766;21900206;22144582;21890473;23400010;23001567 79960 D6RAS5;D6RBB3;D6RC05;D6RCS1;D6RE74;D6RFK0;D6RGE7;Q9H692 AB058710;ABBA01044828;ABBA01044829;AC093783;AC108024;AF520952;AK026132;AK027620;AK074986;AK127326;AK297357;AK304235;AK304815;AMYH01014514;AMYH01014515;BC032376;BN000287;CH471056;DB451567;NM_024900;NM_199320 AAH32376;AAM95612;AAY40997;ABM82498;ABM85692;BAB15371;BAB47436;BAB55239;BAC11335;BAC86931;BAG59805;BAG65104;BAG65565;CAE30500;EAX05170;EAX05171;EAX05172;EAX05173;EAX05174;EAX05175;EAX05176;NP_079176;NP_955352;Q6IE81 Hs.12420 1672985;1675654;1851036;2148001;2169463 D4S871;G34049;RH93632;SHGC-24754;SHGC-67603 FLJ22479;JADE1;KIAA1807 OTTHUMP00000219842;OTTHUMP00000219934;OTTHUMP00000219935;OTTHUMP00000219936;PHD protein Jade-1;gene for apoptosis and differentiation in epithelia;protein Jade-1 protein-coding ENSG00000077684 30027 10151 610514 VALIDATED 1605766 PHF5CP PHD finger protein 5C pseudogene 19 19 19 p12 19602478 19603311 - 19558875 19560348 - 19698415 19699248 - 12054543 450232 ABBA01051336;AC011448;AMYH01009610;NG_004711 PHF5AP1 pseudo 32385 INFERRED 1605764 PHF5DP PHD finger protein 5D pseudogene 3 3 3 q13.2 111489399 111490245 - 114563294 114564433 - 113080809 113081655 - 12054543 450238 ABBA01061653;AC026348;AMYH01013394;NG_005422 1696506 SHGC-83142 pseudo 23268 INFERRED 1605763 PHF5EP PHD finger protein 5E pseudogene 3 3 3 p21.31 49778266 49779086 + 49787602 49788731 + 49812689 49813509 + 12054543 450239 ABBA01024576;AC139451;AMYH01013162;NG_005423 1686604 RH81036 pseudo 23267 INFERRED 1605762 PHF5FP PHD finger protein 5F pseudogene X X X q23 115329086 115329894 - 114800180 114803662 - 114894024 114894832 - 12054543 450246 ABBA01053711;AC005000;AMYH01022855;NG_005424 pseudo 23266 INFERRED 1605765 PHF5GP PHD finger protein 5G pseudogene 2 2 2 q24.3 162696765 162697533 - 168795986 168797077 - 169087966 169088734 - 12054543 450234 ABBA01004951;AC067940;AMYH01011239;NG_005421 pseudo 23269 INFERRED 1605683 PHF20 PHD finger protein 20 20 20 20 q11.22-q11.23 31108215 31286573 + 33823337 34001702 + 34359923 34538288 + 6480464 22334668;18478111;17081983;15906353;15489334;14702039;12800201;12477932;12097419;11780052;11703362;8889549;20479123;15960975;19473719;22939629;16751776;22449972;20360068;18029348;22864287 51230 B0QYY0;B0QZ19;F8WCQ1;Q5JWZ0;Q5JXL1;Q9BXA3 ABBA01019133;ABBA01019134;ABBA01019135;ABBA01019136;ABBA01019137;ABBA01019138;ABBA01019139;ABBA01019140;ABBA01019141;ABBA01019142;ABBA01019143;ABBA01019144;ABBA01019145;ABBA01019146;ABBA01019147;ABBA01019148;AF220416;AF258787;AF348207;AK054597;AK090798;AK097498;AK314503;AL078461;AL109965;AL137330;AL356422;AL357374;AL558423;AMYH01011876;AMYH01011877;AY027523;AY134747;BC006415;BC016948;BC022933;BC048210;BC062681;BC080598;BC093405;BC150178;BG778940;BM906582;BX643875;CD690482;CH471077;DQ599920;L09749;NM_016436 AAF34184;AAG49888;AAH48210;AAH80598;AAH93405;AAI50179;AAK13046;AAK19748;AAN08621;BAG37103;BAG53476;EAW76153;EAW76154;EAW76155;EAW76156;EAW76157;EAW76158;NP_057520;Q9BVI0 Hs.517044 1335674;1679233;1722791;1770347;1774806;1848758;1849099;2125586;2137751;2151888;2159929;5014051;5015404;5015619;5016478;5021228;5022463;5022578;5024413;5037552 A003B07;AFM240wf8;D11S3114;D1S1423;D20S1058;D20S564E;D20S909;D3S1673;D8S2278;D8S2279;G60337;GDB:312794;GDB:434012;L17705;L17877;RH107;RH15995;RH98357;T03643;Z94588 C20orf104;FLJ33479;GLEA2;HCA58;NZF;TDRD20A;TZP OTTHUMP00000030807;PHD finger protein 20;glioma-expressed antigen 2;hepatocellular carcinoma-associated antigen 58;novel zinc finger protein;transcription factor TZP;tudor domain containing 20A protein-coding ENSG00000025293 16098 08514 610335 VALIDATED 1605761 PHF5HP PHD finger protein 5H pseudogene 15 15 15 q26.3 77798969 77799925 - 99203070 99204592 - 101386043 101387000 - 12054543 450250 ABBA01020533;AC015712;AMYH01006972;NG_005425 pseudo 23264 INFERRED 1344183 PHF21B PHD finger protein 21B 22 22 22 q13.31 29188973 29317403 - 43655706 43784245 - 45277042 45405809 - 737633;6480464 12477932 15489334;15461802;14702039;10591208;20379614 112885 B0QYW2;B1AHC5;B1AHC6;B7Z657;Q96EK2 ABBA01017841;ABBA01017842;ABBA01017843;ABBA01017844;ABBA01017845;ABBA01017846;ABBA01017847;ABBA01017848;ABBA01017849;ABBA01017850;ABBA01017851;AK091480;AK092243;AK095777;AK297317;AK299836;AL049760;AL079301;AMYH01012843;AMYH01012844;AMYH01012845;AMYH01012846;BC012187;CH471138;CR456448;NM_001135862;NM_001242450;NM_138415;Z83838 AAH12187;BAG52373;BAG52506;BAG53127;BAH12544;BAH13143;CAG30334;CAK54430;CAK54729;EAW73365;EAW73366;EAW73367;NP_001129334;NP_001229379;NP_612424;Q96EK2 Hs.254097 1659093;1700934;1708736;1727897;1728559;1784510;1853056 AL021656;AL022544;G63365;G63569;RH104094;SHGC-154030;SHGC-81585 BHC80L;FLJ34161;PHF4 OTTHUMP00000199355;OTTHUMP00000199356;OTTHUMP00000199357;PHD finger protein 21B;PHD finger protein 4 protein-coding ENSG00000056487 25161 13997 VALIDATED 1354499 PHF21A PHD finger protein 21A The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010] 11 11 11 p11.2 46098473 46290814 - 45907446 46099561 - 45950870 46142985 - 6480464 15325272;19439607;17394647;16140033;15489334;14702039;12493763;12477932;12032298;11214970;16189514;19322201;22770980;17687328;21102462;17643375;20379614;16079794;18501190;21252943 51317 E9PLU5;E9PLV4;E9PNN4;E9PNW9;E9PQM3;E9PR02;E9PS51;H0YCI1;H0YCM5;H0YEK2;Q96BD5 AB051483;ABBA01060753;ABBA01060754;ABBA01060755;ABBA01060756;AC024475;AC068385;AC129913;AF208848;AK021530;AK023258;AL359593;AL359608;AMYH01003532;AY090777;BC015714;BX648236;CB266669;CH471064;NM_001101802;NM_016621 AAF64262;AAH15714;AAM09095;ABZ92334;BAB13839;BAB14492;BAB21787;CAH10542;EAW68012;EAW68013;EAW68014;EAW68015;EAW68016;EAW68017;EAW68018;NP_001095272;NP_057705;Q96BD5 Hs.502458 1336915;1342091;1658884;1664819;1676760;1681879;1686036;1737781;1769202;1782236;1782404;2119824;2125305;2152836;2180306;2217070 A009A44;BHC80_3825;D11S1319;D11S1385;D11S3382;D11S3979;D11S4411;G31098;RH26848;RH28420;RH46074;RH48958;RH93676;SHGC-105085;SHGC-154733;SHGC-37229 BHC80;BM-006;KIAA1696 BHC80a;BRAF35-HDAC complex protein BHC80;BRAF35/HDAC2 complex (80 kDa);OTTHUMP00000234841;OTTHUMP00000234842;PHD finger protein 21A APPROVED protein-coding ENSG00000135365 24156 608325 VALIDATED 1601853 PHF23 PHD finger protein 23 17 17 17 p13.1 7162996 7167472 - 7079071 7083549 - 7138347 7142825 - 6480464 16344560;14702039;12477932;16169070;17207965;21139048;22286219 79142 B3KVH8;B4DLK6;I3L0X3;I3L0Y2;I3L1N0;I3L2W6;I3L410;I3L4Q4;Q9BUL5 ABBA01054855;ABBA01054856;AC120057;AI129084;AK026537;AK074766;AK122791;AK122901;AK297040;AMYH01008074;AMYH01008075;AY099328;BC002509;BC008630;CH471108;CQ783657;DA131173;EF071959;NG_033038;NM_024297 AAH02509;AAH08630;AAM44129;ABK59097;ADQ31739;BAB15498;BAC11192;BAG53790;BAG59568;CAF86797;EAW90240;EAW90241;EAW90242;EAW90243;NP_077273;Q9BUL5 Hs.644724 1659680;1687976;1725687 G62047;RH11492;RH26918 FLJ16355;FLJ22884;MGC2941;hJUNE-1b PDH-containing protein JUNE-1;PHD finger protein 23;PHD finger protein 23a protein-coding ENSG00000040633 28428 612910 VALIDATED 1312646 PHF3 PHD finger protein 3 6 6 6 q12 62516983 62584942 + 64414390 64482364 + 64356431 64424405 + 1580863;6480464 12168954;11856869;17081983;16964243;15906353;15489334;15345747;15302935;14702039;14574404;12477932;11464277;9039502;22586326;21890473;22096494 23469 B3KP41;D6R9X2;D6RBF0;D6REP0;E7ER40;E7EVH3;E9PE34;H0Y8L0;Q92576 ABBA01023954;ABBA01023955;ABBA01023956;AF091622;AK025283;AK055678;AK290491;AK298580;AK307869;AK315868;AL050329;AL445676;AMYH01016387;AMYH01016388;BC040583;BC113650;BC113652;BX648268;CH471143;D87685;NM_015153 AAF21292;AAI13651;AAI13653;BAA13438;BAF83180;BAF98759;BAG51553;BAG60771;CAI56715;CAM45842;EAW88496;NP_055968;Q92576 Hs.348921 1667137;1673979;1751957;1752955;1853944;1853946;2135380 A001T23;D6S1215E;G19628;G35019;SHGC-105953;SHGC-106853;STS-H96569 KIAA0244;MGC142210;MGC142212 OTTHUMP00000016677;OTTHUMP00000217901;OTTHUMP00000217902;PHD finger protein 3 protein-coding ENSG00000118482 8921 08477 607789 PROVISIONAL 1348043 PHF5A PHD finger protein 5A This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25662105 25671092 - 40185667 40194654 - 41855721 41864708 - 6480464;6907045 12226669;12234937;15489334;15461802;12477932;12054543;10591208;15146077;18076038;19394292;22939629;23651857;21963094;21988832;22365833;23000965;17332742;20360068;21890473;22505724 84844 Q7RTV0 ABBA01055637;ABBA01055638;ABBA01055639;AL008582;AMYH01012803;BC007321;BC075808;BK000563;BU584712;CH471095;CR456398;NM_032758 AAH07321;AAH75808;ABZ92207;CAG30284;CAK54387;CAK54686;DAA00074;EAW60433;EAW60434;NP_116147;Q7RTV0 Hs.474980;Hs.707800 INI;MGC1346;Rds3;SAP14b;SF3b14b;bK223H9.2 OTTHUMP00000198827;PHD finger-like domain protein 5A;PHD finger-like domain-containing protein 5A;PHD-finger 5a;splicing factor 3B associated 14 kDa protein;splicing factor 3B-associated 14 kDa protein APPROVED protein-coding ENSG00000100410 18000 15126 REVIEWED 1318527 PHF7 PHD finger protein 7 Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 3 p21.1 52423849 52436977 + 52419567 52432697 + 52444527 52457657 + 1580863;6480464 15489334;12477932;11829468;11042152;8125298;7701562;20098747;21832049;18029348;21926972;21139048;22493164;22894908;22595675;23105109 51533 C9J4W0;H7C4N0;H7C5Q8;Q9BWX1;Q9NS08 ABBA01024508;ABBA01024509;AC006208;AC092045;AF151060;AK223531;AK292221;AL137671;AMYH01013184;AY014283;BC022002;BG704704;BG722530;CH471055;HC007212;NM_001278221;NM_016483;NM_173341 AAF36146;AAH22002;AAK27308;ABM81823;ABM84977;BAD97251;BAF84910;CAB70867;CBH19411;EAW65222;EAW65223;EAW65224;NP_001265150;NP_057567;NP_775463;Q9BWX1 Hs.372719 1688915;1715427;1771199;1788698;2121976;2123399 RH120546;RH135811;RH98195;SHGC-37089;SHGC-64306;STS-N58503 DKFZp434L1850;HSPC045;HSPC226;MGC26088;NYD-SP6 OTTHUMP00000212988;OTTHUMP00000212989;OTTHUMP00000212990;OTTHUMP00000212993;PHD finger protein 7;testis development protein NYD-SP6 APPROVED protein-coding ENSG00000010318 18458 15127 REVIEWED 5488898 PHKA1-AS1 PHKA1 antisense RNA 1 X 71908799 71932190 + 100506671 XR_109770 1707528 SHGC-84572 APPROVED miscrna 40446 2293162 PHKA1P1 phosphorylase kinase, alpha 1 pseudogene 1 1 1 1 p22.2 89606665 89607636 - 91131101 91132078 - 91358513 91359484 - 12825073;11181995 646780 ABBA01045570;AC091614;AMYH01000784;CH471097;NG_007661 EAW73119 pseudo 33919 INFERRED 1354174 PHF6 PHD finger protein 6 This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010] X X q26.3 133335008 133390488 + 133507342 133562822 + 6480464;7240710 18029348;17081983;15994862;15772651;15635413;15489334;15466013;15241480;14756673;14714754;14714741;12676923;12477932;12415272;11347906;21145461;23229552;19264739;20228800;17207965;20806366;21030981;21880637;21907836;21987572;21139048;21736506;22928734;22505724;22720776 84295 A8K230;B4E0G4;E9PC97;Q5JRC6;Q8IWS0 AB058726;ABBA01042433;ABBA01042434;ABBA01042435;ABBA01042436;ABBA01042437;ABBA01042438;ABBA01042439;AC004383;AK290095;AK303369;AK303647;AL591668;AL832725;AMYH01022993;AW297001;AY157622;BC005994;BG122271;CD685336;CF242973;CH471107;DR000282;NG_008886;NM_001015877;NM_032335;NM_032458 AAH05994;AAO13214;ADQ32682;BAB47452;BAF82784;BAG64426;BAG64650;EAX11762;EAX11763;EAX11764;EAX11765;EAX11766;NP_001015877;NP_115711;NP_115834;Q8IWS0 Hs.356501 1650338;1694118;1702218;1748191;1788628;1792648;2113524;2219502;5015961;5016352;5022322;5022578;5037552 AL008911;AL035127;AW549906;D11S2560;D15S1477;D1S1423;D8S2279;DXS10102A10;DXS7827;G66694;L30021;PHF6__5683;PMC156144P1 BFLS;BORJ;CENP-31;MGC14797 Borjeson-Forssman-Lehmann syndrome;OTTHUMP00000024062;OTTHUMP00000024063;OTTHUMP00000024064;OTTHUMP00000024065;PHD finger protein 6;PHD-like zinc finger protein;centromere protein 31 APPROVED protein-coding ENSG00000156531 18145 02330 300414;301900 REVIEWED 3398935 PHGR1 proline/histidine/glycine-rich 1 15 15 15 q15.1 17409218 17414618 + 38424068 38435929 + 40643234 40648635 + 6480464 12477932;16341674 644844 C9JFL3 ABBA01038453;AC013356;AMYH01006560;BC052373;BC061640;BC070498;BC109367;BM854696;NM_001145643 C9JFL3;NP_001139115 Hs.447537 1334929;1759433;1766889 D15S968;SHGC-151196;SHGC-152328 proline, histidine and glycine-rich protein 1;proline/histidine/glycine-rich 1 protein-coding ENSG00000233041 37226 VALIDATED 1347460 PHF8 PHD finger protein 8 The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] X X p11.22 53979838 54087036 - 53963113 54071569 - 1580863;6480464;7240710 15302935;14702039;12477932;12168954;10470851;10398231;15489334;18498374;17661819;17081983;16199551;15772651;22120715;20421419;20622853;20622854;20023638;20644565;16344560;17643375;19843542;20067792;20101266;20208542;20346720;20531378;20548336;19394292;21057379;23022380;21832049;22850744;20467438;20953165;21963094;23518351;19596686;21139048;21029866;22505724 23133 B0QZE1;B0QZZ2;B0QZZ3;B0QZZ4;H0Y3N9;H0Y589;H0Y7M8;H7BZB7;O95327;Q5JPR8;Q7Z6D4 AB029034;ABBA01069690;ABBA01069691;ABBA01069692;ABBA01069693;ABBA01069694;ABBA01069695;ABBA01069696;ABBA01069697;ABBA01069698;ABBA01069699;ABBA01069700;ABBA01069701;ABBA01069702;ABBA01069703;ABBA01069704;ABBA01069705;ABBA01069706;ABBA01069707;ABBA01069708;AF091081;AK021696;AK022788;AK027229;AK304272;AL589872;AL732374;AMYH01022428;BC017720;BC042108;BC053861;BE676640;CH471154;CR933612;DA458639;DB079048;NG_021309;NM_001184896;NM_001184897;NM_001184898;NM_015107;Z98051 AAC72950;AAH53861;BAA83063;BAB13877;BAG51116;BAH14147;CAI45929;EAW93167;EAW93168;EAW93169;EAW93170;NP_001171825;NP_001171826;NP_001171827;NP_055922;Q9UPP1 Hs.133352 1336636;1656898;1685439;1701440;1703024;1703034;1719515;1750169;1768567;1847164;2108363;2145043;7186248 DXS337;DXS441;DXS6968;DXS990;PHF8_9310;RH104352;RH123478;RH45985;SGC31978;SHGC-112282;SHGC-59949;STS-N24182 DKFZp686E0868;JHDM1F;KIAA1111;MRXSSD;ZNF422 OTTHUMP00000023362;OTTHUMP00000023363;OTTHUMP00000023364;OTTHUMP00000023366;OTTHUMP00000023367;histone lysine demethylase PHF8;jumonji C domain-containing histone demethylase 1F APPROVED protein-coding ENSG00000172943 20672 06599 300263;300560 REVIEWED 1342879 PHKBP1 phosphorylase kinase, beta pseudogene 1 20 20 20 p12.3-p12.2 8148049 8150011 - 8026871 8027570 - 8078371 8080533 - 8681948 5258 ABBA01053921;AL021396;AL050323;AMYH01011701;NG_024957;X85225 pseudo 8928 INFERRED 1348085 PHKBP2 phosphorylase kinase, beta pseudogene 2 14 14 14 q13.3 16866579 16867105 - 36072783 36073309 - 37003032 37003558 - 8681948 5259 ABBA01061527;AL132857;AMYH01005674;NG_001173;X85226 pseudo 8929 INFERRED 6767134 PHKA2-AS1 PHKA2 antisense RNA 1 X p22.13 18908414 18913093 + 12477932 100132163 ABBA01071703;ABBA01071704;ABBA01071705;AL096700;AMYH01022123;BC073810;NR_029379 Hs.607628 1655330;1744553;2130555;2151797;2187497 GDB:526394;RH70923;RH78314;SHGC-33016;STS-X80497 APPROVED miscrna 44110 VALIDATED 737224 PHGDH phosphoglycerate dehydrogenase This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] 1 1 p12 120056033 120088361 + 120254419 120286849 + 1600412;1300048;1580863;6480464;6907045;7240710 11055895 8758134;19404161;19388702;19223009;18627175;16730941;16710414;16344560;16236267;15489334;14702039;12477932;11751922;11034457;10894924;10713460;21145461;21319273;17643375;19235232;19778996;19497206;21981974;22990118;21832049;22939629;20391533;21760589;16196087;21804546;19135240;19738201;19805454;21988832;23000965;22360420;17623298;18781797;19596686;20360068;21081666;21900206;21987572;21139048;21890473;21906983;21963094;21886157;16009940;20473970;17676665;21853274;22053931;22505724;23378610 26227 O43175;Q5SZU1 ABBA01068518;AF171235;AF171236;AF171237;AF208732;AF208733;AF208734;AF208735;AF208736;AI685723;AK093306;AK129762;AK309662;AK310132;AK315360;AL139251;AL589734;AMYH01000979;AMYH01000980;BC000303;BC001349;BC011262;BC023235;BC032110;CH471122;CR456795;DA731339;NG_009188;NM_006623 AAD51413;AAD51414;AAD51415;AAH00303;AAH01349;AAH11262;AAH32110;AAK60573;AAK60574;AAK60575;AAK60576;AAK60577;ABM82999;ABW03347;BAG37755;BAG52685;CAG33076;EAW56707;EAW56708;NP_006614;O43175 Hs.487296 1335830;1696250;1705750;2159740;2162489;2167821;2175614;7185306 A002P44;D1S514;IB441;SHGC-83467;SHGC-83620;T16008;WI-15319 3-PGDH;3PGDH;MGC3017;PDG;PGAD;PGD;PGDH;SERA 3-phosphoglycerate dehydrogenase;D-3-phosphoglycerate dehydrogenase;OTTHUMP00000013926;OTTHUMP00000013927 APPROVED protein-coding ENSG00000092621 8923 06047 601815;606879 REVIEWED 2292063 PHKG1P1 phosphorylase kinase, gamma 1 pseudogene 1 7 7 7 q11.21 58851869 58853152 + 62329950 62332083 - 62693341 62694624 - 12825073 643941 ABBA01006354;AC006455;AMYH01017361;NG_005544 pseudo 33916 INFERRED 2291789 PHKG1P2 phosphorylase kinase, gamma 1 pseudogene 2 7 7 q11.21 62607015 62608871 + 62969681 62971337 + 12825073 644032 AC006457;AMYH01017397;NG_005545 pseudo 33917 INFERRED 1345002 PHKG1P3 phosphorylase kinase, gamma 1 pseudogene 3 11 11 11 p11.12 50399654 50400943 + 50161400 50163605 - 50205648 50206933 - 12825073 5262 ABBA01060660;AC109635;AMYH01003587;NG_005543 PHKGL;PHKg1ps2 pseudo 8932 INFERRED 2306326 PHKG1P4 phosphorylase kinase, gamma 1 pseudogene 4 7 7 p11.2 57128219 57129008 - 57128219 57129008 - 9847074 100151641 AC122133;AMYH01017332;NG_007655 pseudo 33918 INFERRED 1345138 PHIP pleckstrin homology domain interacting protein PHIP binds the pleckstrin homology (PH) domain of insulin receptor substrate-1 (IRS1; MIM 147545), modulates insulin signaling, and plays a role in pancreatic beta cell growth and survival (Farhang-Fallah et al., 2000 [PubMed 11018022]; Podcheko et al., 2007 [PubMed 17636024]).[supplied by OMIM, Jun 2009] 6 6 6 q14 80031409 80175293 - 79706985 79844708 - 79644136 79788011 - 6480464 22511720;11018022;17636024;16344560;15009096;14702039;12477932;16169070;21145461;16949367;16964240;19471022;18781797;21139048;21693764;21890473;22586326;19295130 55023 A7J992;Q96ME2 ABBA01040399;ABBA01040400;ABBA01040401;ABBA01040402;ABBA01040403;AF310250;AJ303102;AK000712;AK057039;AK075124;AK127816;AL049321;AL161957;AL356776;AL450327;AMYH01016455;AMYH01016456;BC008909;BC021905;BC036479;BC064611;BC081569;BC137488;BC144670;BI548935;BX537762;CH471051;DA500781;DQ924532;NM_017934 AAG45145;AAH08909;AAH21905;AAH81569;AAI37489;ABK76299;BAA91336;BAB71353;BAC11417;CAC83118;CAH10776;EAW48717;EAW48718;EAW48719;NP_060404;Q8WWQ0 Hs.511817;Hs.606356 1684272;1686354;1688738;1710044;1714171;1750189;1770694;1770696;2122854;2184170;2191145;2219506 Bdy14g08;D6S2044;MARC_15335-15336:1013436983:1;PHIP__5685;RH119694;RH46720;RH76061;RH78623;RH80650;RH94050;SHGC-112293;SHGC-82298 BRWD2;DCAF14;FLJ20705;FLJ45918;MGC90216;WDR11;ndrp DDB1 and CUL4 associated factor 14;IRS-1 PH domain-binding protein;OTTHUMP00000016771;PH-interacting protein;WD repeat-containing protein 11 APPROVED protein-coding 15673 10152 612870 VALIDATED 733215 PHKA1 phosphorylase kinase, alpha 1 (muscle) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] X X q12-q13 71717203 71850612 - 71798664 71934029 - 1599897;70269;1599893;1580863;2305981;6480464;6907045;7240710 11692172;12825073;10487978 8226841;7874115;18029348;18401027;15489334;12876330;12477932;2757032;2108025;1872871;16344560;20080404;7705849;22939629;21139048;21906983;22238410 5255 A6NIT2;A6NMN0;P46020 ABBA01046244;ABBA01046245;ABBA01046246;ABBA01046247;ABBA01046248;ABBA01046249;ABBA01046250;ABBA01046251;ABBA01046252;ABBA01046253;ABBA01046254;ABBA01046255;ABBA01046256;ABBA01046257;ABBA01046258;ABBA01046259;ABBA01046260;AC240504;AK123357;AMYH01022555;AMYH01022556;AW450116;BC104944;BC143499;BC143501;BJ998054;BX295541;BX295542;BX647542;CH471213;DA171597;DA998603;DR002787;NG_016599;NM_001122670;NM_001172436;NM_002637;X73874;X73878 AAI04945;AAI43500;AAI43502;CAA52083;EAW71825;EAW71826;NP_001116142;NP_001165907;NP_002628;P46020 Hs.201379 1702720;1707528;2131625;2134351;2146582;5015619;5017896;5022651;5037552;5109281;5126690 D11S2921;D11S3114;D1S1425;D8S2279;DXS8347;G31500;GDB:265287;PHKA1;RH46172;RH70895;SHGC-84572 MGC132604;PHKA OTTHUMP00000024287;OTTHUMP00000024288;OTTHUMP00000024289;phosphorylase b kinase alpha subunit;phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform;phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform;phosphorylase kinase alpha M subunit;phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis APPROVED protein-coding ENSG00000067177 8925 02415 300559;311870 REVIEWED 1344785 PHKA2 phosphorylase kinase, alpha 2 (liver) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010] X X p22.2-p22.1 18820793 18912097 - 18910416 19002480 - 1601388;1580863;2305981;6480464;6907045;7240710 7711737;10487978 8733133;7549948;18950708;17581768;16565220;15851553;15772651;15489334;15231748;14702039;14684825;12876330;12862311;12477932;10330341;9835437;9600238;8733134;8226841;7847371;5306139;2387090;2303074;1505214;1372435;1872871;12620389;8518797;16600665;17689125;22939629;21131218;16051665;20360068;21911307;21634085;17620599;21857251 5256 P46019 ABBA01071704;ABBA01071705;ABBA01071706;ABBA01071707;ABBA01071708;ABBA01071709;ABBA01071710;ABBA01071711;ABBA01071712;ABBA01071713;ABBA01071714;ABBA01071715;ABBA01071716;ABBA01071717;ABBA01071718;AF044571;AF044572;AK056812;AK092480;AK289996;AL096700;AL732509;AMYH01022123;AY429559;AY429560;AY429561;AY429562;AY429563;BC014036;BC114375;CD722555;CH471074;D38616;DB458123;NG_016622;NM_000292;W63591;X73875;X80497;Y15154 AAD32846;AAH14036;ABM84603;ABM86486;BAA07606;BAF82685;CAA52084;CAA56662;CAA75421;EAW98951;NP_000283;P46019 Hs.54941 1701844;1702626;1729067;1733382;1744553;1744555;1749569;1791225;2130555;2151797;2187497;2219508;5117370;5117372;5117374;5117376;5117378 497J19_T7;DXS6698;DXS8002;GDB:524045;GDB:526390;GDB:526391;GDB:526392;GDB:526393;GDB:526394;GDB:526395;GDB:604608;PHKA2__5686;Pdha1;RH70923;RH78314;SHGC-111268;STS-X80497 GSD9A;MGC133071;PHK;PYK;PYKL;XLG;XLG2 OTTHUMP00000023007;phosphorylase b kinase regulatory subunit alpha liver isoform;phosphorylase b kinase regulatory subunit alpha, liver isoform;phosphorylase kinase alpha L subunit;phosphorylase kinase alpha-subunit APPROVED protein-coding ENSG00000044446 8926 02380 300798;306000 REVIEWED 1343205 PHKB phosphorylase kinase, beta Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010] 16 16 q12-q13 46052739 46291755 + 47495210 47735434 + 1580863;2305981;6480464;6907045;7240710 10487978 9402963;16189514;15489334;12876330;12825073;12477932;9533876;9326319;9215682;8681948;2757032;1872871;17689125;20379614;22939629;16051665;20360068;22318606;17979178;21634085 5257 H3BQ89;H3BV13;I3L0Z1;I3L1N3;I3L213;I3L3F2;I3NHZ9;Q93100 ABBA01013751;AC007599;AC092374;AK123692;AK293122;AK309226;AMYH01007645;BC033657;CH471092;CR936710;NG_016598;NM_000293;NM_001031835;X84908;X84909;Y15155 AAH33657;ABM82280;BAG53937;BAG56674;CAA59332;CAA59333;CAA75422;EAW82700;EAW82701;NP_000284;NP_001027005;Q93100 Hs.78060 1653387;1659553;1664034;1677901;1679918;1696636;1715669;1736546;1794222;2159779;5037552 D16S2546E;D8S2279;PMC310830P28;RH119280;RH69896;RH69983;RH70722;RH75229;RH79025;SHGC-61389;SHGC-82951 DKFZp781E15103;FLJ41698 OTTHUMP00000164134;phosphorylase b kinase regulatory subunit beta;phosphorylase kinase beta-subunit;phosphorylase kinase subunit beta APPROVED protein-coding ENSG00000102893 8927 01407 172490;261750 REVIEWED 731844 PHKG1 phosphorylase kinase, gamma 1 (muscle) This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 7 7 p11.2 56116169 56128183 - 56147976 56160689 - 1580863;2305981;6480464;6907045 10487978 2297530;16344560;15489334;12853948;12825073;12665801;12387894;12477932;10737616;10090741;9832145;9771888;9735171;9362479;8999860;8672716;8530014;7935360;7929096;7874115;7706316;2507540;2365696;17692548;16051665 5260 B7Z5U3;B7Z6U2;C9J2Q6;C9JME8;F8WD25;Q16816 ABBA01061850;ABBA01061851;AC092101;AF254250;AF254251;AF254252;AF254253;AK293180;AK299429;AK300928;AK309503;AK312851;AMYH01017279;BC051327;BC069655;BC069679;BC069738;BC069754;BC074753;CH471140;DB171823;NM_001258459;NM_001258460;NM_006213;NR_047689;X80590 AAH51327;AAH69655;AAH69679;AAH69738;AAH69754;AAH74753;AAL36972;AAS07453;BAG35704;BAH11466;BAH13029;BAH13378;CAA56681;EAX07987;EAX07989;NP_001245388;NP_001245389;NP_006204;Q16816 Hs.730821 1778638;5017695;5024627;5024649 PHKG1;RH46930;RH71293;SHGC-56973 PHKG OTTHUMP00000159797;PHK-gamma-M;phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform;phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform;phosphorylase kinase gamma;phosphorylase kinase subunit gamma-1;serine/threonine-protein kinase PHKG1 APPROVED protein-coding 8930 01404 172470 REVIEWED 1312382 PHLDA2 pleckstrin homology-like domain, family A, member 2 This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010] 11 11 p15.4 2906079 2907226 - 2949503 2950650 - 6480464 22610481;9328465;17388661;17303335;17180344;16964243;16584773;15952111;15489334;13129680;12477932;12374806;12032310;10749982;10594239;10197590;9520460;9500470;9403053;8125298;20484977;20201924;17207965;20705733;21555518;22021909;21906983;22100507;22444668 7262 Q53GA4 ABBA01032077;AC013791;AF001294;AF019953;AF035444;AI659266;AK223027;AMYH01003325;BC005034;CH471158;CR407664;NG_009266;NM_003311 AAB86680;AAC17458;AAC51912;AAH05034;ADQ32809;BAD96747;CAG28592;EAX02531;NP_003302;Q53GA4 Hs.154036 1689500;2131535;2217742 PHLDA2_2795;RH39948;RH77915 BRW1C;BWR1C;HLDA2;IPL;TSSC3 OTTHUMP00000012603;beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein;imprinted in placenta and liver protein;p17-BWR1C;p17-Beckwith-Wiedemann region 1 C;p17-Beckwith-Wiedemann region 1C;pleckstrin homology-like domain family A member 2;tumor suppressing subchromosomal transferable fragment cDNA 3;tumor suppressing subtransferable candidate 3;tumor-suppressing STF cDNA 3 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 3 protein;tumor-supressing STF cDNA 3 APPROVED protein-coding ENSG00000181649 12385 03679 602131 REVIEWED 733133 PHLDA1 pleckstrin homology-like domain, family A, member 1 This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008] 12 12 q15 74705494 74711823 - 76419227 76425556 - 6480464 11369516;18641796;17870236;17211533;15489334;15315823;15037619;15002043;12738777;12477932;12384558;10894922;9417904;16189514;21558389;18029348;17024176;19060904;21832049;21807936;21906983;19322201;22592641 22822 Q8WV24;R4GND3 ABBA01026465;AC011611;AF220656;AF239986;AK026181;AK304224;AMYH01004597;BC017756;BC018929;BC037430;BC039558;BC047362;BC065825;BC110820;BC126425;BC130427;CH471054;DR002699;NM_007350;U92983;Z50194 AAF36387;AAF64165;AAH18929;AAI10821;AAI26426;AAI30428;ADZ15884;BAG65096;CAA90576;EAW97312;EAW97313;NP_031376;Q8WV24 Hs.602085 1674958;1698266;1777550;1778207;1778865;2134743;2181829;5015861;5022578;5022651;5037552;5493789;7185938 D10S16;D11S2921;D1S1423;D8S2279;RH102669;RH47245;RH47541;RH68021;SGC32769;STS-N27861;UniSTS:494836;WI-17728 DT1P1B11;MGC131738;PHRIP;TDAG51 OTTHUMP00000242071;PQ-rich protein;PQR protein;T-cell death-associated gene 51 protein;apoptosis-associated nuclear protein;pleckstrin homology-like domain family A member 1;proline- and glutamine-rich protein;proline- and histidine-rich protein;proline-histidine rich protein;t-cell death associated gene APPROVED protein-coding 8933 05625 605335 REVIEWED 732798 PHKG2 phosphorylase kinase, gamma 2 (testis) Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 16 16 p11.2 30667238 30676183 + 30759620 30772497 + 1580863;737725;737724;2305981;6480464;6907045;7240710 9384616;8896567;10487978 8020963;2948189;17689125;15489334;14702039;12930917;12477932;10905889;9362479;7935363;6962066;2915644;8889548;8999860;16051665 5261 H3BN16;H3BP07;H3BTI9;H3BTW6;J3KNN3;P15735 AB209055;ABBA01042055;ABBA01042056;AC106886;AK055943;AK289492;AK293551;AMYH01007498;AMYH01007499;BC002541;BC036735;CA449954;CH471192;M14503;M31606;NG_016616;NM_000294;NM_001172432;S73483;Y11950;Y11951 AAA36442;AAA36518;AAD14119;AAH02541;ABM83108;ABW03492;BAD92292;BAF82181;BAG57028;CAA72694;EAW52208;EAW52209;EAW52210;EAW52211;NP_000285;NP_001165903;P15735 Hs.65735 1676350;1677718;1677848;1686246;1690656;5015619;5015861;5016478;5017266;5022200;5022463;5022578;5037552;5118444;7185938 D10S16;D11S3114;D11S3316;D1S1423;D3S1673;D8S2279;GDB:434012;L18426;L18506;RH65200;RH69119;RH79848;RH79900;RH92783 GSD9C OTTHUMP00000163233;PHK-gamma-LT;PHK-gamma-T;PSK-C3;Phosphorylase kinase, gamma 2 (testis/liver);phosphorylase b kinase gamma catalytic chain, liver/testis isoform;phosphorylase b kinase gamma catalytic chain, testis/liver isoform;phosphorylase kinase subunit gamma-2;serine/threonine-protein kinase PHKG2 APPROVED protein-coding ENSG00000156873 8931 01405 172471;613027 REVIEWED 1350676 PHLDB2 pleckstrin homology-like domain, family B, member 2 3 3 3 q13.2 109851286 110094444 + 113085500 113177826 + 111451327 111695364 + 737633;6480464 12477932 16964243;16824950;16344560;15489334;15324660;15302935;14702039;12376540;11001876;8889548;20236936;20379614;18029348;20513769;15161933;21139048;19531213;20125193 90102 E9PDY7;E9PFQ4;E9PGF6;G5E9V3;Q86SQ0 AB209903;ABBA01061669;AC055748;AC060225;AC117509;AF506820;AJ496194;AK025444;AK027862;AK092996;AK096151;AK125555;AK296841;AK307491;AK315050;AL137663;AL832205;AL832476;AL833135;AMYH01013389;AW264132;BC022383;BC031000;BC038806;BC069194;BC142678;BC150210;BX647615;CA310697;CH471052;CR749654;DA272187;DA438817;DA447763;NM_001134437;NM_001134438;NM_001134439;NM_145753 AAH31000;AAH38806;AAH69194;AAI42679;AAI50211;AAM33634;BAC04014;BAC04713;BAC86200;BAD93140;BAG59408;CAD42711;CAH10396;CAH10400;CAH18447;CAH56216;CAH56386;EAW79690;EAW79691;EAW79692;NP_001127909;NP_001127910;NP_001127911;NP_665696;Q86SQ0 Hs.603252;Hs.679140 1658447;1658508;1671377;1673806;1764631;1778889;1848968;1853800;2116255;2158829;5016851;5019763;5093480 A009Q05;G32743;G32762;RH12849;RH17931;RH45577;RH80031;SHGC-12085;SHGC-148219;SHGC-32892;SHGC-58070;SHGC-77194;SHGC-77196 DKFZp313O2433;DKFZp434G227;DKFZp686J05113;FLJ21791;LL5b;LL5beta LL5 beta;OTTHUMP00000214661;OTTHUMP00000214662;OTTHUMP00000214663;OTTHUMP00000214664;OTTHUMP00000214667;OTTHUMP00000214668;pleckstrin homology-like domain family B member 2;protein LL5-beta protein-coding ENSG00000144824 29573 06611 610298 VALIDATED 1345533 PHLDB3 pleckstrin homology-like domain, family B, member 3 19 19 19 q13.31 40779982 40809738 - 48671095 48700825 - 43979255 44008985 - 737633;6480464 12477932 15489334;15057824;14702039;11181995;8889548;8012384 653583 M0QXT7;M0R038;M0R353;M0R3I7;Q6NSJ2;Q96HZ0 AA621318;ABBA01040861;ABBA01040862;AC018758;AK097512;AMYH01009839;BC007947;BC029299;BC070094;BC157852;BC171853;BG403419;BU858992;CA502903;CB850627;CH471126;NM_198850;Z59022 AAH07947;AAH70094;AAI57853;AAI71853;BAC05082;EAW57191;EAW57192;EAW57193;NP_942147;Q6NSJ2 Hs.631581 5022651 D11S2921 FLJ40193;MGC87511 OTTHUMP00000198269;pleckstrin homology-like domain family B member 3 protein-coding ENSG00000176531 30499 VALIDATED 1321441 PHLDA3 pleckstrin homology-like domain, family A, member 3 1 1 1 q31 174558492 174562169 - 199701245 199704922 - 201434607 201438299 - 6480464 17353931;19203586;10594239;15489334;14702039;12477932;8125298;18029348;21832049;21753719;15146197 23612 Q9Y5J5 ABBA01027532;AC096677;AF151100;AK075179;AK222644;AK312115;AMYH01001643;BC014390;BC068273;CH471067;CN356697;NM_012396;NR_073080 AAD42081;AAH14390;AAH68273;ADZ16073;BAC11454;BAD96364;BAG35051;EAW91369;NP_036528;Q9Y5J5 Hs.268557 2110651 PHLDA3_1561 TIH1 OTTHUMP00000033919;OTTHUMP00000033920;TDAG51/Ipl homolog 1;pleckstrin homology-like domain family A member 3;pleckstrin homology-like domain, family A, member 2 protein-coding ENSG00000174307 8934 09519 607054 VALIDATED 1354110 PHLDB1 pleckstrin homology-like domain, family B, member 1 11 11 11 q23.3 115637985 115689504 + 117982423 118033951 + 118477213 118528748 + 6480464 17081983;15491607;15489334;14702039;14532993;12477932;12168954;11001876;9734811;19578367;20462933;20513769;20847058;21350045;21531791;23300798;21139048;19531213;22951725;23400010 23187 E9PKC1;E9PMZ5;H0YCP1;Q6ZUD6;Q86UU1;Q8NC75 AB014538;AB094090;AB177859;ABBA01039701;ABBA01039702;AI917888;AK021690;AK027510;AK074070;AK074747;AK074918;AK125783;AK295819;AK296345;AL080230;AL832373;AMYH01004071;AMYH01004072;AP000941;AP002954;BC013031;BC014510;BC098586;BX489377;BX648176;CH471065;CR749783;EF445008;NM_001144758;NM_001144759;NM_015157 AAH13031;AAH14510;AAH98586;ACA06041;BAA31613;BAB55164;BAB84896;BAC11292;BAC76044;BAC86289;BAD66837;BAG51996;BAG58636;BAG59029;CAH18649;EAW67400;EAW67401;EAW67402;EAW67403;EAW67404;EAW67405;EAW67406;EAW67407;NP_001138230;NP_001138231;NP_055972;Q86UU1 Hs.504062 1337737;1725775;1731933;2107499;2130606;2134135;2164642;5015861;5022578;5022651;5109281;7185938 D10S16;D11S1364;D11S2065;D11S2274E;D11S2921;D11S614;D1S1423;D1S1425;G62130;PHLDB1__6986;RH11874 DKFZp686H039;DKFZp686O24210;FLJ00141;FLJ90266;KIAA0638;LL5A;MGC111531 LL5alpha;OTTHUMP00000232681;OTTHUMP00000232682;OTTHUMP00000232683;OTTHUMP00000233082;pleckstrin homology-like domain family B member 1;protein LL5-alpha protein-coding ENSG00000019144 23697 15128 612834 VALIDATED 1350249 PHP panhypopituitarism 5263 8936 1604636 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 16 16 16 q22.2 55994913 56064759 - 70236353 70306205 - 71678852 71748704 - 5131497;6480464 18511290 19324870;17386267;16381901;15616553;15489336;14702039;12477932;11256614;11230166;11076863;10231032;19261608;19615732;20379614;20513427;21986499;20605778;22183406;23184957 23035 G3V1T8;H3BMS5;H3BS75;I3L187;Q3ZCW4;Q6ZVD8 AB023148;ABBA01016780;ABBA01016781;AC009097;AK001661;AK001854;AK124678;AMYH01007788;AMYH01007789;BC035267;BC129927;BC129983;BX647823;BX648157;BX648394;CH471166;NM_015020 AAH35267;AAI29928;AAI29984;BAA76775;BAA91943;BAC85924;CAL37945;CAL38419;EAW59225;EAW59226;NP_055835;Q6ZVD8 Hs.709458 1298327;1653738;1688939;1792812;2171770;2180252;2184568;2185889;5016851;5037552;5117897 D16S2624;D16S485;D16S751;D8S2279;GDB:631813;PMC164657P2;RH15650;RH80031;RH80500;SHGC-64276;WI-21728 KIAA0931;PHLPPL PH domain and leucine rich repeat protein phosphatase-like;PH domain leucine-rich repeat-containing protein phosphatase 2;PH domain leucine-rich repeat-containing protein phosphatase-like;PHLPP-like protein-coding ENSG00000040199 29149 11118 611066 VALIDATED 1314655 PHOSPHO1 phosphatase, orphan 1 17 17 17 q21.32 43755211 43762602 - 44655731 44663127 - 47300732 47308128 - 1580863;6480464;6907045 19453261;18471996;16054448;15489334;15175005;15050893;14983068;12477932;12464021;19874193 162466 D6RB58;D6RHH9;D6RIT6;I3L4N1;Q8TCT1 ABBA01041193;AC004797;AJ457189;AMYH01008460;BC029931;BC117187;BC143884;CH471109;NM_001143804;NM_178500 AAI17188;CAD29803;EAW94686;NP_001137276;NP_848595;Q8TCT1 Hs.405607 OTTHUMP00000220006;OTTHUMP00000220007;OTTHUMP00000220008;OTTHUMP00000220009;OTTHUMP00000220012;phosphoethanolamine/phosphocholine phosphatase protein-coding ENSG00000173868 16815 17847 VALIDATED 1603445 PHOSPHO2 phosphatase, orphan 2 2 2 2 q31.1 164169782 164177027 + 170259221 170266464 + 170550964 170558218 + 6480464;6907045 16054448;15815621;15489334;12477932;16341674;16344560;17207965 493911 C9J4G2;C9JD35;C9JZQ7;Q8TCD6 ABBA01014892;AC016772;AK314915;AMYH01011249;BC022324;BC106013;BI550291;BM820383;CH471058;DA211528;DB443540;NM_001008489;NM_001199285;NM_001199286;NM_001199287;NM_001199288 AAH22324;AAI06014;AAY24234;ADQ32229;BAG37427;EAX11262;EAX11263;NP_001008489;NP_001186214;NP_001186215;NP_001186216;NP_001186217;Q8TCD6 Hs.733554 MGC111048;MGC22679 OTTHUMP00000204769;OTTHUMP00000204770;OTTHUMP00000204771;OTTHUMP00000204772;pyridoxal phosphate phosphatase PHOSPHO2 protein-coding ENSG00000144362 28316 17848 VALIDATED 731281 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011] 18 18 q21.33 58533714 58798646 + 60382672 60647676 + 2301729;5131497;5131532;6480464 18336616;18511290 15808505;19079341;18162466;17386267;16177791;15951569;15489334;14702039;12477932;12168954;10570941;9628581;20677014;19745829;19261608;19615732;19690890;19797085;20379614;20513427;20574456;20861921;20089132;20819118;21177869;22391563;21454620;21840483;22939629;21461637;22044669;21701506;21986499;21804599;20605778;21890473;22144674;22183406;19322201;22426999;22237780;22340730;23440515;22931649 23239 K7EP91;O60346 AB011178;ABBA01056200;ABBA01056201;ABBA01056202;ABBA01056203;ABBA01056204;ABBA01056205;AC015989;AC022046;AC027553;AF130097;AK001924;AK124714;AL079409;AMYH01009051;AMYH01009052;AMYH01009053;BC010706;BC014927;BC047653;BC063519;BC082244;BC126277;BG110729;CH471096;NG_031923;NM_194449 AAG35522;AAH10706;AAH14927;AAH47653;AAH63519;AAH82244;AAI26278;BAA25532;BAA91980;EAW63135;NP_919431;O60346 Hs.465337 1338523;1643706;1716643;1716807;1719373;1797166;2110659;5015404;5015881;5020414;5022578;5096625 D1S1423;D20S200;GDB:335751;L17688;L17705;PLEKHE1;PLEKHE1__5718;RH121578;RH121698;RH123414;RH16037;SHGC-34992 MGC161555;PHLPP;PLEKHE1;SCOP OTTHUMP00000198060;PH domain leucine-rich repeat-containing protein phosphatase 1;PH domain-containing family E member 1;SCN circadian oscillatory protein;hSCOP;pleckstrin homology domain containing, family E (with leucine rich repeats) member 1;pleckstrin homology domain-containing family E member 1;suprachiasmatic nucleus circadian oscillatory protein APPROVED protein-coding ENSG00000081913 20610 15145 609396 REVIEWED 733682 PHOX2A paired-like homeobox 2a The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008] 11 11 q13.2 71627769 71632852 - 71950121 71955220 - 1599902;1580863;6480464;7240710 11600883 22311481;8661014;18949361;18323871;17584765;17505528;17344216;16280598;16156742;16127999;16049556;15489334;15240857;14597037;14566559;14506227;12477932;12100889;11943777;11889467;11549713;10644760;9683611;9341190;9119371;19212675;19573018;19852579;20301522;22170461 401 H0YGU5;O14813 ABBA01017539;AF022722;AF022723;AF022724;AJ320270;AK290645;AMYH01003792;AMYH01003793;AP000593;BC041564;BQ890461;CH471076;NG_008169;NM_005169 AAB82744;AAH41564;ABZ91991;BAF83334;CAC44904;EAW74856;NP_005160;O14813 Hs.731115 1668792;2108365;2135774;2180738 PHOX2A_8209;RH48230;RH67903;RH70700 ARIX;CFEOM2;FEOM2;MGC52227;NCAM2;PMX2A ARIX1 homeodomain protein;OTTHUMP00000237214;aristaless homeobox homolog;aristaless homeobox protein homolog;arix homeodomain protein;paired mesoderm homeobox protein 2A APPROVED protein-coding ENSG00000165462 691 04129 602078;602753 REVIEWED 1347823 PHOX2B paired-like homeobox 2b The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008] 4 4 p12 41440857 41445744 - 41746099 41750987 - 1599147;1599148;1580863;6480464;7240710 14566559;12640453 18949361;18798833;18580884;18438890;18407552;18323871;18292934;18275850;18198276;18157832;18079495;18041756;17765533;17637745;17541758;17505528;17440194;17300129;16888290;16873766;16830328;16763219;16691592;16402914;16280598;16249188;16144830;16127999;16049556;16021468;15901893;15657873;15653965;15516980;15489334;15338462;15240857;15193420;15185974;15024693;12919134;12631670;12477932;12438263;11034547;10360575;9374403;10395798;19262523;19201717;19191321;19128492;19058226;19011468;9039501;22856363;21286029;19573018;19707990;19735829;19881470;19940179;20004937;20101209;19888871;20538960;20846217;21051998;20601214;20301600;20957039;21206965;22821709;21373876;21624811;23342068;22307522;22552777;21076974;21088916;22323723;21830319;22052119;22170461;22437207;23103552;22648184;23427517;23037578 8929 H0YAD2;Q99453 AB015671;ABBA01014273;AC105389;AF117979;AF414189;AI266171;AMYH01014132;BC017199;CH471069;D82344;NG_008243;NM_003924 AAD26698;AAH17199;BAA11555;BAA82670;EAW92989;NP_003915;Q99453 Hs.87202 2166417;2191353 MARC_17835-17836:1025010330:1;SHGC-67926 NBLST2;NBPhox;PMX2B OTTHUMP00000125223;PHOX2B homeodomain protein;neuroblastoma Phox;neuroblastoma paired-type homeobox protein;paired mesoderm homeobox 2b;paired mesoderm homeobox protein 2B APPROVED protein-coding ENSG00000109132 9143 09157 209880;603851;613013 REVIEWED 1321250 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 9 9 9 q34.11 102335033 102356179 + 130722995 130744141 + 131683174 131704320 + 737633;1580863;6480464 12477932 8889548;14702039;17207965;17567994;21530488;21832049;21044950 254295 F8WCG7;G5E9M0;H7C2Q0;H7C3M4;I7HJS6;Q7Z7P9 ABBA01043908;AK054994;AK095000;AL672142;AMYH01021754;BC009373;BC051300;BC053853;BM689360;CH471090;NM_001100876;NM_001100877;NM_174933 AAH09373;AAH51300;AAH53853;ADQ32553;BAG51448;BAG52969;EAW87844;EAW87845;EAW87846;EAW87847;EAW87848;NP_001094346;NP_001094347;NP_777593;Q5SRE7 Hs.709447 1820572;1822270;1824290;1825006;1825234;1829028;1830966;1838026;1838276;1844482;1845876;1931872;1931874;1931876;1931878;1931880;1931882;1931884;1931886;1931888;1931890;1931892;1931894;1931896;1931898;1931900;1931902;1931904;1931906;1931908;1931910;1931912;1931914;1931916;1931918;1931920;1931922;1931924;1931926;1931928;1931930;1931932;1931934;1931936;1931938;1931940;1931942;1931944;1931946;1931948;1931950;1931952;1931954;1931956;1931958;1931960;1931962;1931964;1931966;1931968;2135054;2208054;2208056;2208058;2208060;2208062;2208064;2208066;2208068;2208070;2208072;5014051;5015619;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;ECD11361;ECD12221;ECD13243;ECD13602;ECD13718;ECD15641;ECD16619;ECD20184;ECD20312;ECD23455;ECD24157;REN36765;REN36766;REN36767;REN36768;REN36769;REN36770;REN36771;REN36772;REN36773;REN36774;REN36775;REN36776;REN36777;REN36778;REN36779;REN36780;REN36781;REN36782;REN36783;REN36784;REN36785;REN36786;REN36787;REN36788;REN36789;REN36790;REN36791;REN36792;REN36793;REN36794;REN36795;REN36796;REN36797;REN36798;REN36799;REN36800;REN36801;REN36802;REN36803;REN36804;REN36805;REN36806;REN36807;REN36808;REN36809;REN36810;REN36811;REN36812;REN36813;RH47282;stSG628072;stSG628074;stSG628075;stSG628076;stSG628077;stSG628078;stSG628080;stSG628081;stSG628082;stSG628083 MGC16638 OTTHUMP00000022302;OTTHUMP00000022303;OTTHUMP00000022304;OTTHUMP00000022305;OTTHUMP00000199642;OTTHUMP00000204998;phytanoyl-CoA dioxygenase domain-containing protein 1 protein-coding ENSG00000175287 23396 17850 VALIDATED 1322769 PHPT1 phosphohistidine phosphatase 1 PHPT1 is an EDTA-insensitive phosphohistidine phosphatase that catalyzes the dephosphorylation of phosphopeptide I (Ek et al., 2002 [PubMed 12383260]).[supplied by OMIM, Mar 2008] 9 9 q34.3 138863367 138865311 + 139743256 139745490 + 1580863;6480464;6907045 12383260;18991813;16130169;19138678;18796614;18656514;16713569;16381901;16344560;16219293;16189514;15489336;15489334;12477932;11342225;11230166;11076863;11042152;10931946;9110174;8619474;16169070;21967643;21163124;20501872;19344975;22939629;21139048;21890473;21044950 29085 Q9NRX4;Q9P019 AA460844;ABBA01022726;AF131857;AF161490;AF164795;AF285119;AF393504;AL136644;AL355987;AMYH01021878;AMYH01021879;BC024648;BQ922335;CH471090;CR533481;DA470768;NM_001135861;NM_014172 AAF29105;AAF80759;AAG01156;AAH24648;AAN52504;CAB66579;CAG38512;CAL38548;EAW88289;EAW88290;EAW88291;EAW88292;NP_001129333;NP_054891;Q9NRX4 Hs.409834 2132405 STS-N90764 CGI-202;DKFZp564M173;HSPC141;PHP14;RP11-216L13.10;bA216L13.10 14 kDa phosphohistidine phosphatase;1700008C22Rik;OTTHUMP00000022619;OTTHUMP00000022620;phosphohistidine phosphatase 14kDa;protein janus-A homolog;sex-regulated protein janus-a APPROVED protein-coding ENSG00000054148 30033 17849 610167 VALIDATED 1317467 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein-like 10 10 10 q11 54202113 54273651 + 60606353 60677062 + 60936348 61007534 + 737633;6480464 12477932 11256614;16381901;16189514;15489336;14702039;12975309;11347906;11230166;11076863;8889548;16385451;20379614;20877624 84457 Q96FC7 AB058699;ABBA01019445;ABBA01019446;AC016398;AC025038;AK054956;AL365474;AL834339;AMYH01002766;AW299583;AY358162;BC011268;BM676577;CH471083;CR749429;DB455338;DB551000;NM_001143774;NM_032439 AAH11268;AAQ88529;BAB47425;BAB70832;CAB97028;CAD39006;CAH18267;CAL37621;CAL38059;EAW54184;EAW54185;EAW54186;NP_001137246;NP_115815;Q96FC7 Hs.499704 1700862;1789052;2157489;2165147;2178731;5014051;5015671;5022200 D10S1549E;D10S1860;D8S2278;G65661;L18426;RH104057;SHGC-30631;WI-14793 KIAA1796 OTTHUMP00000019638;OTTHUMP00000019639;phytanoyl-CoA hydroxylase interacting protein-like;phytanoyl-CoA hydroxylase-interacting protein-like protein-coding ENSG00000165443 29378 15131 VALIDATED 1321591 PHTF2 putative homeodomain transcription factor 2 7 7 7 q11.23-q21 72128704 72287454 + 77307433 77424475 + 77428109 77586821 + 6480464 11256614;16381901;15489336;15342556;14702039;12477932;11230166;11076863;10729229;8125298;20383146;21906983;19322201;23064961;23251661 57157 B3KQZ2;Q9H099 AACC02000015;ABBA01058019;ABBA01058020;AC004955;AC004990;AC073520;AK090643;AK225854;AK308289;AL050389;AL136883;AL831969;AMYH01017631;BC018098;BC022419;BC032334;BC067742;BC127093;BC127094;BE880432;BP321440;BP395569;CB051673;CH236949;CH471091;NM_001127357;NM_001127358;NM_001127359;NM_001127360;NM_020432 AAH18098;AAH22419;AAH32334;AAH67742;AAI27094;AAI27095;BAG52204;CAB43684;CAB66817;CAD38610;CAL37861;CAL38078;EAL24195;EAW77027;EAW77028;EAW77029;EAW77030;EAW77031;NP_001120829;NP_001120830;NP_001120831;NP_001120832;NP_065165;Q8N3S3 Hs.203965;Hs.601884 1339962;1648097;1786398;2121990;2133561;2147706;2165218;2177099;2178903 D7S1478;D7S675;G19211;GDB:1317992;GDB:1317994;RH78990;SGC33240;SHGC-171971;SHGC-64853 DKFZp564F013;FLJ33324;MGC86999 OTTHUMP00000208227;OTTHUMP00000208228;OTTHUMP00000208229;OTTHUMP00000208230;OTTHUMP00000208231;OTTHUMP00000208232;OTTHUMP00000209950;putative homeodomain transcription factor 2 protein-coding ENSG00000006576 13411 15130 VALIDATED 1605972 PHRF1 PHD and ring finger domains 1 11 11 11 p15.5 639140 677368 + 566486 602220 + 576483 612222 + 6480464 18204446;17081983;16344560;15489334;15302935;12477932;10997877;10819331;21145461;20848568;20881011;20962850;21068098;20112359;21408207;21139048;21555454;21890473;22586326;22433914 57661 E9PJ24;F8WEF5;Q9BSM2 AB040975;ABBA01015192;ABBA01015193;ABBA01015194;ABBA01015195;ABBA01015196;ABBA01015197;AK308541;AMYH01003288;AP006284;BC004950;BC013381;BC029651;BC041631;BC112931;BC127876;BC136615;BC144293;BC144294;BC144295;BC146771;CH471158;DA989169;NM_020901 AAH04950;AAH13381;AAH29651;AAH41631;AAI27877;AAI36616;AAI44294;AAI44295;AAI44296;AAI46772;BAA96066;EAX02353;EAX02354;NP_065952;Q9P1Y6 Hs.325838 1680403;1693542;2119411;2133520;5015619;5022651;5037552;7186171 D11S2921;D11S3114;D8S2279;RH75434;SHGC-31256;SHGC-58456;STS-M91083 KIAA1542;RNF221 CTD binding SR like protein rA9;CTD-binding SR-like protein rA9;OTTHUMP00000228596;OTTHUMP00000228597;OTTHUMP00000228598;OTTHUMP00000237921;OTTHUMP00000237922;PHD and RING finger domain-containing protein 1 protein-coding ENSG00000070047 24351 13870 611780 VALIDATED 1353546 PHTF1 putative homeodomain transcription factor 1 1 1 1 p13 112469051 112531003 - 114041360 114102879 - 114239824 114301777 - 1580863;6480464 10729229;18305142;17554260;16710414;16344560;15489334;12477932;10395808;1729229;20089178;20379614;20211142;23568457;22493691;23251661 10745 B4DGS8;F6T5D1;H0Y825;Q5TCQ3;Q5TCQ5;Q9UMS5 ABBA01068457;ABBA01068458;AJ011863;AK126773;AK294749;AL133517;AL365321;AMYH01000963;BC000842;BC002447;CH471122;CX763183;DA728266;DB457884;NM_006608 AAH00842;AAH02447;BAG57889;CAB51572;EAW56566;EAW56567;EAW56568;EAW56569;NP_006599;Q9UMS5 Hs.655824 1692236;1698482;2123677;2125297;2131671 AL033778;D1S3609;RH102791;SHGC-75355;SHGC-75358 PHTF OTTHUMP00000013561;OTTHUMP00000013562;OTTHUMP00000013565;OTTHUMP00000013566;putative homeodomain transcription factor 1 protein-coding ENSG00000116793 8939 09227 604950 VALIDATED 731796 PHYH phytanoyl-CoA 2-hydroxylase This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 10 10 p13 13359802 13382136 - 13319796 13342130 - 1358251;1580863;6480464;7240710 12923223 8954107;17353931;9326940;18612766;16189514;16186124;15930519;15489334;14974078;12767919;12477932;11574539;11555634;11549466;10866807;10767344;10744784;10709665;10686344;10588950;10051602;9565335;9326939;9266377;9221344;2433405;16169070;16385451;19834535;20877624;16756494;20301527;21832049;21890473;19322201 5264 B1ALH6;C9IYS5;C9JR86;O14832 ABBA01034630;AF023462;AF112977;AF242379;AL138764;AMYH01002042;BC021011;BC029512;BF185692;BF509272;BM351828;CH471072;CR542055;NG_012862;NM_001037537;NM_006214 AAB81834;AAD20602;AAF74123;AAH29512;ABM81933;ABM85111;CAG46852;EAW86294;EAW86295;NP_001032626;NP_006205;O14832 Hs.498732 1670703;2145818 RH15740;WI-16723 LN1;LNAP1;PAHX;PHYH1;RD OTTHUMP00000019131;OTTHUMP00000019132;OTTHUMP00000179083;OTTHUMP00000216226;phytanic acid oxidase;phytanoil-CoA alpha hydroxylase;phytanoyl-CoA 2 oxoglutarate dioxygenase;phytanoyl-CoA alpha-hydroxylase;phytanoyl-CoA dioxygenase, peroxisomal;phytanoyl-coa hydroxylase (refsum disease) APPROVED protein-coding ENSG00000107537 8940 03609 266500;602026 REVIEWED 1314035 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein 8 8 8 p21.3 21039919 21052558 - 22133161 22145796 - 22077216 22089851 - 6480464 15694837;15489334;12477932;11245925;10686344;9039502;8889548;16169070;23505323 9796 E5RHN5;Q92561 ABBA01005509;AC105206;AK098743;AK294372;AMYH01018565;BC034034;BC035940;BM674072;CH471080;D87463;NM_001099335;NM_014759 AAH34034;AAH35940;BAA13402;BAG57632;EAW63693;EAW63694;NP_001092805;NP_055574;Q92561 Hs.334688 1778035;2135596 A002C14;D8S1579 DYRK1AP3;KIAA0273;PAHX-AP;PAHXAP1 DYRK1A interacting protein 3;OTTHUMP00000224835;OTTHUMP00000224836;PAHX-AP1;phytanoyl-CoA alpha-hydroxylase associated protein;phytanoyl-CoA hydroxylase interacting protein;phytanoyl-CoA hydroxylase-associated protein 1;phytanoyl-CoA hydroxylase-interacting protein protein-coding ENSG00000168490 16865 16345 608511 VALIDATED 1602671 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 5 5 5 q35.3 173262527 173286791 - 177568196 177592392 - 177635540 177659803 - 6480464 16344560;16189514;14702039;12477932;20877624;17207965;21044950;22241472;23242558 85007 A8K7P6;D6RAR0;D6RCB8;D6RD89;H0Y9N3;H0YAK5;H7BXR0;H7BYK2;Q8IUZ5 AA862441;ABBA01009991;AC136601;AC136632;AF318375;AK023470;AK024076;AK090397;AK093737;AK292061;AMYH01015940;BC008009;BC028002;BC037238;BC037567;BC039012;BC067745;BC088800;BC110335;BX417194;CH471165;DB022121;HY267487;NG_033253;NM_001278346;NM_153373;NR_103508;NR_103509;NR_103510 AAH08009;AAH37567;AAI10336;AAL55882;ADQ31790;ADZ15837;BAC03378;BAF84750;BAG51198;EAW53835;EAW53836;EAW53837;EAW53838;EAW53839;EAW53840;EAW53841;NP_001265275;NP_699204;Q8IUZ5 Hs.248746 1688819;1740357;1740373;1740393;1740419;1740473;1778561;2151169;2217438 D5S2189E;D5S2197E;D5S2215E;D5S2231E;D5S2268E;HNRPAB_3078;RH16525;RH98765;STS-AA022921 MGC117348;MGC15875;MGC45484;PHLU 5-phosphohydroxy-L-lysine phospho-lyase;5-phosphonooxy-L-lysine phospho-lyase;OTTHUMP00000161492;alanine--glyoxylate aminotransferase 2-like 2 APPROVED protein-coding ENSG00000175309 28249 18482 614683 REVIEWED 1319988 PI15 peptidase inhibitor 15 This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008] 8 8 8 q21.11 71730974 71761463 + 75899327 75929819 + 75736772 75767264 + 1580863;6480464 9473672;18029348;18464913;12477932;10362728;8882727 51050 O43692 ABBA01041988;AC011632;AC026616;AK130318;AK130386;AMYH01018800;BC074931;BC074932;BC126290;BC126292;CH471068;CR749657;D45027;NM_015886 AAH74931;AAH74932;AAI26291;AAI26293;ADR83354;BAA25066;CAH18451;EAW87037;NP_056970;O43692 Hs.98558 1689318 RH92346 CRISP8;DKFZp686F0366;P24TI;P25TI 25 kDa trypsin inhibitor;CRISP-8;OTTHUMP00000226900;OTTHUMP00000226901;PI-15;cysteine-rich secretory protein 8;peptidase inhibitor 15;protease inhibitor 15;sugarCrisp APPROVED protein-coding ENSG00000137558 8946 06150 607076 REVIEWED 1312389 PI16 peptidase inhibitor 16 6 6 6 p21.2 38477186 38487588 + 37030187 37040591 + 36916039 36932613 + 6480464 17062675;16303743;15344909;12975309;12477932;20237162;22533972;16344560 221476 B4E1P4;Q6UXB8 ABBA01038268;ABBA01038269;AK075470;AK124589;AK302193;AK303928;AK312785;AL050088;AL122034;AMYH01016277;AX136261;AY358422;BC022399;BC035634;CH471081;DA342875;DB178215;JA738575;NM_001199159;NM_153370 AAH22399;AAH35634;AAQ88788;BAC11640;BAC85892;BAG35648;BAG63555;BAG64856;CAC39772;CCF76940;EAX03923;EAX03924;NP_001186088;NP_699201;Q6UXB8 Hs.25391 1848171 RH12807 CRISP9;DKFZp586B1817;MGC45378;MSMBBP;PSPBP CRISP-9;OTTHUMP00000016309;PI-16;PSP94-binding protein;cysteine-rich secretory protein 9;microseminoprotein, beta-binding protein;peptidase inhibitor 16;protease inhibitor 16 protein-coding ENSG00000164530 21245 VALIDATED 1344308 PI3 peptidase inhibitor 3, skin-derived This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2008] 20 20 q13.12 43236912 43238599 + 43803540 43805185 + 1580863;6480464 8287685;7685029;8476637;19251943;19197381;19095674;18799464;18700007;18203972;18092325;18025118;17964057;17489739;17200145;17139263;16980310;16913840;16719916;16424380;16300411;16279952;15668324;15489334;15034071;14693682;12970320;12819058;12542536;12477932;12397374;12206714;12164924;12029489;11956616;11868825;11780052;11755920;11667971;11466403;11371023;9727750;9171290;8999895;8823304;8794736;7780965;2394696;2039600;2001428;1969201;1536690;1339270;20932308;19823954;19420899;19723838;19906197;20126474;20346360;20371463;19824918;21466784;21666788;21392745;23300756;19087518;22634606 5266 P19957;Q6LD69 AA583773;ABBA01052657;AL049767;AMYH01011937;BC010952;CH471077;CR542234;D13156;L10343;NM_002638;S58717;S78387;Z18538;Z48352 AAA36483;AAB26371;AAB34627;AAH10952;ABM83636;ABM86888;BAA02441;CAA79223;CAG47030;EAW75873;EAW75874;NP_002629;P19957 Hs.112341 2119907 RH66083 ESI;MGC13613;SKALP;WAP3;WFDC14;cementoin OTTHUMP00000031100;PI-3;WAP four-disulfide core domain 14;WAP four-disulfide core domain protein 14;elafin;elastase-specific inhibitor;peptidase inhibitor 3, skin-derived (SKALP);pre-elafin;protease inhibitor 3, skin-derived (SKALP);protease inhibitor WAP3;skin-derived antileukoproteinase;trappin-2 APPROVED protein-coding ENSG00000124102 8947 15947 182257 REVIEWED 1352637 PI8L2 protease inhibitor 8 (ovalbumin type)-like 2 10644448 11028 8954 1605063 PI4K2A phosphatidylinositol 4-kinase type 2 alpha Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008] 10 10 q24 99390433 99426177 + 99400443 99436187 + 6480464;6484113;6907045 11279162;19010779;18256276;16443754;16249177;15711748;15302935;14702039;12914695;12650639;12594831;12477932;12324459;11244087;11113129;9110174;9006891;8619474;20562859;16385451;19561074;20154717;21190509;21218173;21330372;21163940;21987572;21139048;21890473;21906983;21963094;22505724 55361 E9PAM4;Q9BTU6 ABBA01021792;ABBA01021793;ABBA01021794;ABBA01021795;AF070611;AJ303098;AK023236;AK024317;AK309343;AL353952;AL355315;AMYH01002978;BC003167;BT007330;CH471066;NM_018425 AAH03167;AAP35994;ABM84463;ABM84684;CAB89254;CAC38065;EAW49906;EAW49907;NP_060895;Q9BTU6 Hs.25300 1661031;1681562;1736118;1755033;2107501;2135680;2165703 D10S1386E;PI4KII__6989;RH11292;RH66059;RH68006;RH91726;SHGC-141980 DKFZp761G1923;PI4KII;PIK42A;RP11-548K23.6 OTTHUMP00000020224;OTTHUMP00000221793;phosphatidylinositol 4-kinase type 2-alpha;phosphatidylinositol 4-kinase type II (PI4KII);phosphatidylinositol 4-kinase type II-alpha APPROVED protein-coding ENSG00000155252 30031 11431 609763 PROVISIONAL 1626566 PI4KAP1 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 22 22 q11.21 18763731 18778695 - 20383731 20398695 - 14702039;12477932;21906983 728233 Q8N8J0 AC023490;AK002141;AK024034;AK096724;AK292695;AMYH01012497;BC072398;BC131538;NR_003563 BAC04851;BAF85384;Q8N8J0 Hs.592456 2151485;5022200;5022578;5022651;5037552;5113361;5118802 D11S2921;D11S3665;D1S1423;D8S2279;L18426;RH27899;RH78571 FLJ39405 pseudo ENSG00000215513 33576 PROVISIONAL 1604941 PI4KAP2 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 22 22 q11.21 20157287 20201780 - 21827287 21871780 - 16344560;16189514;15489334;15461802;14702039;12477932;12107411;8889548;7566098;21906983 375133 A4QPH2 AA300351;AA425488;ABBA01001224;AK126860;AK297163;AK298744;AK299734;AK303215;AMYH01012617;AMYH01012618;AMYH01012619;AP000557;BC020225;BC139841;BQ638971;BX407261;BX452846;CA313607;CR456378;CX751888;DA463001;NR_003700 A4QPH2;AAI39842;AAI41653;BAC86726;BAG59660;BAG60888;BAG61631;BAG64303;CAG30264 Hs.448225;Hs.592456;Hs.743559 2151485;5037552;5113361;5118802 D11S3665;D8S2279;RH27899;RH78571 FLJ44912;MGC31920 pseudo ENSG00000183506 33577 14194 VALIDATED 1602326 PI4K2B phosphatidylinositol 4-kinase type 2 beta Phosphatidylinositol 4-kinases (PI4Ks) phosphorylate phosphatidylinositol to generate phosphatidylinositol 4-phosphate (PIP), an immediate precursor of several important signaling and scaffolding molecules. PIP itself may also have direct functional and structural roles. PI4K2B is a primarily cytosolic PI4K that is recruited to membranes, where it stimulates phosphatidylinositol 4,5-bisphosphate synthesis (Wei et al., 2002 [PubMed 12324459]).[supplied by OMIM, Jun 2008] 4 4 4 p15.2 25684355 25729523 + 24844773 24889808 + 25235653 25280831 + 6480464;6907045 18316730;16949365;16337488;14702039;12477932;12324459;11923287;11907035;20583997;18029348;19539307;21330372;18624398;21139048;21890473;21906983;19322201;22505724 55300 G5E9Z4;Q8TCG2 ABBA01032693;ABBA01032694;ABBA01032695;AC104662;AC108218;AF411320;AK001967;AK023186;AK128622;AK296302;AMYH01014067;AMYH01014068;AY065990;AY091514;BC031014;BC051749;CH471069;HB386249;NM_018323 AAH51749;AAL04154;AAL47580;AAM12049;BAA92006;BAG54701;BAG59002;CAZ64455;EAW92836;NP_060793;Q8TCG2 Hs.191701 1697266 RH102128 FLJ11105;PI4KIIB;PIK42B OTTHUMP00000158714;OTTHUMP00000218478;PI4KII-BETA;phosphatidylinositol 4-kinase type 2-beta;phosphatidylinositol 4-kinase type II-beta;phosphatidylinositol 4-kinase type-II beta APPROVED protein-coding ENSG00000038210 18215 15132 612101 VALIDATED 732673 PI4KB phosphatidylinositol 4-kinase, catalytic, beta 1 1 q21 149531037 149565348 - 151264273 151300191 - 6480464;6907045 9584208;17353931;9020160;19204726;18474610;17555516;17088255;17081983;17003043;16710414;15634669;15489334;15324660;14607934;12749687;12477932;12324459;12244129;11923287;11526106;11277933;10559940;9405938;9405935;9148941;15778465;21330372;14702039;20562859;19605471;19608626;21218173;21810903;21851817;22258260;22359663;22623531;22253445;23258225;22124328 5298 A6PVV8;E9PIH4;E9PL47;F8W860;H0Y4F8;H0YCW3;Q9UBF8 AB005910;ABBA01049390;AJ011121;AK054691;AK294606;AK311292;AL391069;AL832188;AMYH01001387;BC000029;BC040300;CH471121;DC350175;DC365634;NM_001198773;NM_001198774;NM_001198775;NM_002651;U81802 AAC51156;AAH00029;AAH40300;BAA21661;BAG57793;CAA09495;EAW53449;EAW53450;NP_001185702;NP_001185703;NP_001185704;NP_002642;Q9UBF8 Hs.632465 1718771;1799770;1802464;1802750;1803338;1803424;1805426;1807656;1808478;1808552;1809802;1809804;1810376;1810438;1810440;1810876;1810956;1811748;1812134;1812970;1813914;1814732;1816084;1817442;1818904;1819080;1823842;1827088;1828714;1832966;1835920;1837838;1843000;1844656;1845626;1854931;1857371;1925462;1925464;1925466;1925468;1925470;1925472;1925474;1925476;1925478;1925480;1925482;1925484;1925486;1925488;1925490;1925492;1925494;1925496;1925498;1925500;1925502;1925504;1925506;1925508;1925510;1925512;1925514;1925516;1925518;1925520;1925522;1925524;1925526;1925528;1925530;1925532;1925534;1925536;1925538;1925540;1925542;1925544;1925546;1925548;1925550;1925552;1925554;1925556;1925558;1925560;1925562;1925564;1925566;1925568;1925570;1925572;1925574;1925576;1925578;1925580;1925582;1925584;1925586;1925588;1925590;1925592;1925594;1925596;1925598;1925600;1925602;1925604;1925606;1925608;1925610;1925612;1925614;1925616;1925618;1925620;1925622;1925624;1925626;1925628;1925630;1925632;1925634;1925636;1925638;1925640;1925642;1925644;1925646;1925648;1925650;1925652;1925654;1925656;1925658;1925660;1925662;1925664;1925666;1925668;1925670;1925672;1925674;1925676;1925678;1925680;1925682;1925684;1925686;1925688;1925690;1925692;1925694;1925696;1925698;1925700;1925702;1925704;1925706;1925708;1925710;1925712;1925714;1925716;1925718;1925720;1925722;1925724;1925726;1925728;1925730;1925732;1925734;1925736;1925738;1925740;1925742;1925744;1925746;1925748;1925750;2109649;2131011;2143114;2143176;2154133;2170719;2207594;2207596;2207598;2207600;2207602;2207604;2207606;2207608;2207610;2207612;2207614;2207616;2207618;2207620;2207622;2207624;2207626;2207628;2207630;2207632;2207634;2207636;2207638;2207640;2207642;5491631 A002Y06;Cda0ff08;ECD00739;ECD02118;ECD02262;ECD02565;ECD02609;ECD03660;ECD04800;ECD05221;ECD05258;ECD05893;ECD05894;ECD06180;ECD06212;ECD06213;ECD06436;ECD06476;ECD06878;ECD07072;ECD07499;ECD07984;ECD08397;ECD09082;ECD09771;ECD10516;ECD10606;ECD13013;ECD14659;ECD15484;ECD17624;ECD19121;ECD20089;ECD22708;ECD23542;ECD24031;MARC_27466-27467:1034353260:1;PIK4CB__6996;REN33556;REN33557;REN33558;REN33559;REN33560;REN33561;REN33562;REN33563;REN33564;REN33565;REN33566;REN33567;REN33568;REN33569;REN33570;REN33571;REN33572;REN33573;REN33574;REN33575;REN33576;REN33577;REN33578;REN33579;REN33580;REN33581;REN33582;REN33583;REN33584;REN33585;REN33586;REN33587;REN33588;REN33589;REN33590;REN33591;REN33592;REN33593;REN33594;REN33595;REN33596;REN33597;REN33598;REN33599;REN33600;REN33601;REN33602;REN33603;REN33604;REN33605;REN33606;REN33607;REN33608;REN33609;REN33610;REN33611;REN33612;REN33613;REN33614;REN33615;REN33616;REN33617;REN33618;REN33619;REN33620;REN33621;REN33622;REN33623;REN33624;REN33625;REN33626;REN33627;REN33628;REN33629;REN33630;REN33631;REN33632;REN33633;REN33634;REN33635;REN33636;REN33637;REN33638;REN33639;REN33640;REN33641;REN33642;REN33643;REN33644;REN33645;REN33646;REN33647;REN33648;REN33649;REN33650;REN33651;REN33652;REN33653;REN33654;REN33655;REN33656;REN33657;REN33658;REN33659;REN33660;REN33661;REN33662;REN33663;REN33664;REN33665;REN33666;REN33667;REN33668;REN33669;REN33670;REN33671;REN33672;REN33673;REN33674;REN33675;REN33676;REN33677;REN33678;REN33679;REN33680;REN33681;REN33682;REN33683;REN33684;REN33685;REN33686;REN33687;REN33688;REN33689;REN33690;REN33691;REN33692;REN33693;REN33694;REN33695;REN33696;REN33697;REN33698;REN33699;REN33700;RH123076;RH64677;SHGC-3216;WI-11473;WI-13356;WI-16232;stSG627084;stSG627085;stSG627086;stSG627087;stSG627088;stSG627089;stSG627090;stSG627091;stSG627092;stSG627093;stSG627095;stSG627096;stSG627097;stSG627098;stSG627099;stSG627100;stSG627101;stSG627102;stSG627103;stSG627105;stSG627106;stSG627109;stSG627110;stSG627111;stSG627112 DKFZp686O1820;FLJ30129;NPIK;PI4K-BETA;PI4K92;PI4KBETA;PI4KIIIBETA;PIK4CB OTTHUMP00000014282;OTTHUMP00000014283;OTTHUMP00000014284;OTTHUMP00000014285;OTTHUMP00000230728;PtdIns 4-kinase beta;phosphatidylinositol 4-kinase;phosphatidylinositol 4-kinase beta;phosphatidylinositol 4-kinase, wortmannin-sensitive;type III phosphatidylinositol 4-kinase beta protein-coding ENSG00000143393 8984 11805 602758 VALIDATED 1606434 PIANP PILR alpha associated neural protein This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011] 12 12 12 p13.31 8419980 8426835 - 6673218 6680073 - 6802957 6810009 - 6480464 14702039;12975309;12477932;21241660;16344560;8889548;20578158;23558288 196500 F5GZA6;F5H0N9;F5H191;Q8IYJ0 AA653479;ABBA01017650;AC125494;AK056295;AK091596;AK091656;AK095854;AK289648;AL831874;AMYH01004205;AY358534;BC035736;BM703122;CH471116;DA090039;DB496995;NG_029972;NM_001244014;NM_001244015;NM_153685 AAH35736;AAQ88898;BAF82337;BAG51669;BAG52388;BAG52398;BAG53145;EAW88750;EAW88751;EAW88752;EAW88753;EAW88754;NP_001230943;NP_001230944;NP_710152;Q8IYJ0 Hs.44067;Hs.740050 1658297 STS-N32102 C12orf53;DKFZp547D2210;PANP;leda-1 OTTHUMP00000239147;OTTHUMP00000239148;OTTHUMP00000239149;PILR alpha-associated neural protein;PILR-associating neural protein;hypothetical protein LOC196500;liver endothelial differentiation-associated protein-1;paired immunoglobin-like type 2 receptor-associating neural protein;uncharacterized protein C12orf53 APPROVED protein-coding ENSG00000139200 25338 13205 REVIEWED 736810 PI4KA phosphatidylinositol 4-kinase, catalytic, alpha This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.21 19391979 19543070 - 21061979 21213100 - 633726;1580863;1300048;6480464;6907045 8662589 14676841;7961848;18646052;18615484;18585705;18521859;18077555;17893707;17555516;17131383;16606619;15634669;15489334;14702039;12497619;12477932;11907035;10101268;9654085;9360995;8889548;8246987;7761838;1318025;16169070;15607035;19913121;20628086;21330372;20530568;20052689;17215244;19304308;19605471;19608626;21297162;21238945;21601653;16344560;21697487;12594831;21900206;22022594;22318606;21139048;21890473;21906983;22535966;22896614;22939629 5297 A8MTF1;B4DYG5;C9JLI1;J3KN10;P42356;Q4LE69 AB210002;ABBA01015442;ABBA01015443;ABBA01015444;ABBA01015445;ABBA01015446;ABBA01015447;AC007050;AC007308;AF012872;AK094594;AK095811;AK124692;AK131431;AK302424;AK314781;AL048955;AMYH01012538;BC018120;BC046202;BC053654;BU685224;DA959365;L36151;NG_033052;NM_002650;NM_058004 AAA56839;AAD13352;AAH18120;AAH53654;AAI72398;BAE06084;BAG37317;BAG53136;BAG63727;NP_002641;NP_477352;P42356 Hs.529438;Hs.731386 1686943;1707876;1769423;1857929;2124576;2128659;2151485;2154351;2155538;2169579;5113361 D22S1026;D22S1125;D22S1540;D22S311;RH27825;RH27899;RH78571;SHGC-57873;SHGC-82177;STS-M12849;WI-7024 FLJ16556;PI4K-ALPHA;PIK4CA;pi4K230 OTTHUMP00000028907;PI4-kinase alpha;phosphatidylinositol 4-kinase;phosphatidylinositol 4-kinase 230;phosphatidylinositol 4-kinase alpha;phosphatidylinositol 4-kinase, type III, alpha;ptdIns-4-kinase alpha APPROVED protein-coding ENSG00000241973 8983 08972 600286 REVIEWED 1603704 PIAS2 protein inhibitor of activated STAT, 2 This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011] 18 18 q21.1 42646058 42751464 - 44390022 44497495 - 2290530;6480464;6907045 16426581 15767674;11877418;18579533;15572661;14667819;9256341;18923429;16730941;16713578;16460827;16204249;16189514;16148010;16144832;15976810;15920481;15580267;15489334;15301740;15231748;14609633;14514699;12716907;12526767;12477932;12393906;12239342;12193603;12177000;14739298;16352593;17006541;19164764;19217413;20308430;11867732;11477070;11439351;11117529;10961991;9920921;9724754;12356872;11283613;14752048;15780936;16029420;16269333;19901969;20936779;19394292;21156324;16154161;17066076;17533377;15907835;18451802;17283066;17418410;17471507;20426839;21252943;17036045;22990118;21123453;19786833;22162396;18274552;18624398;19815509;20624960;21139048;21693764;21779164;21906983;22184250;22406621;22731716;22578841;15208321;16142238;16777850;22505724 9063 B4DGW0;K7EJT4;K7EMP6;K7EQX5;K7ER97;O75928;Q2TA77 AA701927;ABBA01022317;AC090241;AC090373;AF077953;AF077954;AF361054;AK294801;AK308143;AMYH01008974;AW016227;BC015190;BC111060;BG718291;BX646432;CH471088;NG_029865;NM_004671;NM_173206 AAC36704;AAC36705;AAH15190;AAI11061;AAK48938;ABM87420;ABW03883;BAG57921;EAX01484;EAX01485;EAX01486;EAX01487;EAX01488;NP_004662;NP_775298;O75928 Hs.657844 1661221;1677887;1679449;1686648 RH93954;RH98404;RH99146;STS-H25373 ARIP3;DIP;MGC102682;MIZ1;PIASX;PIASX-ALPHA;PIASX-BETA;SIZ2;ZMIZ4 ARIP3;DAB2-interacting protein;DIP;E3 SUMO-protein ligase PIAS2;Msx-interacting-zinc finger;PIAS-NY protein;androgen receptor-interacting protein 3;msx-interacting zinc finger protein;protein inhibitor of activated STAT x;zinc finger, MIZ-type containing 4 APPROVED protein-coding 17311 06944 603567 REVIEWED 1344818 PIAS3 protein inhibitor of activated STAT, 3 This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 1 1 q21 144287345 144297903 + 145575988 145586546 + 1580863;1642482;2290530;6480464;6484113;6907045 17486098;16426581 10319586;17087506;17696781;19569236;19308990;18550668;18212042;17987106;17565989;17032498;16679534;16522640;16455055;16368885;16098628;15907835;15489334;15231748;15140884;15138572;14715251;14702039;14691252;14630083;12869526;12804609;12477932;12387893;12208521;11709556;11429412;11390395;11117529;11071847;11060035;9388184;16029420;20936779;11477070;15171715;17533377;19903771;20159969;20231901;20516148;19760037;21317457;21733403;23092970;20351170;21532337;21497567;19471022;21693764;21906983;22321011;18681895;19322201;22584572;20935639;21288202;21900206;18408014;19217413;22649547;21963094;21988832;23322197 10401 B3KNI3;E7ESB4;E9PHH8;F8WA94;Q9Y6X2 AB021868;ABBA01005742;AC239808;AK027557;AK125158;AK294231;AK304039;AL122061;AL133016;AL160282;AMYH01001373;BC001154;BC030556;BE247489;BT007036;CH471244;CR457090;NM_006099 AAH01154;AAH30556;AAP35684;ABM84468;ABM84722;ABM85963;ABW03445;BAA78533;BAG51345;BAG57533;BAG64950;CAB59241;CAB61357;CAG33371;EAW71429;EAW71430;EAW71431;NP_006090;Q9Y6X2 Hs.435761 1658474;1660212;1680026;1699506;2175665 RH103347;RH68119;RH79814;SHGC-32015;WI-20383 FLJ14651;ZMIZ5 E3 SUMO-protein ligase PIAS3;OTTHUMP00000015586;OTTHUMP00000015587;protein inhibitor of activated STAT protein 3;zinc finger, MIZ-type containing 5 APPROVED protein-coding ENSG00000131788 16861 09068 605987 REVIEWED 1317273 PIAS1 protein inhibitor of activated STAT, 1 This gene encodes a member of the mammalian PIAS [protein inhibitor of activated STAT-1 (signal transducer and activator of transcription-1)] family. This member contains a putative zinc-binding motif and a highly acidic region. It inhibits STAT1-mediated gene activation and the DNA binding activity, binds to Gu protein/RNA helicase II/DEAD box polypeptide 21, and interacts with androgen receptor (AR). It functions in testis as a nuclear receptor transcriptional coregulator and may have a role in AR initiation and maintenance of spermatogenesis. [provided by RefSeq, Jul 2008] 15 15 q 66133626 66267467 + 68346572 68480413 + 1580863;1357941;2290530;6480464;6484113;6907045 14607831;16426581 14500712;12855578;12477932;12393906;12356736;12223491;12177000;11877418;11867732;11788578;11672422;11583632;11451946;11439351;11117529;10628744;9724754;9177271;11716541;14609633;10380882;14500761;18579533;15572661;17087506;10805787;17696781;14752048;19288270;18660489;18190974;17934332;17606919;17509614;17371985;17159996;17081983;16679534;16600910;16563226;16522640;16154161;16144832;16135793;15957955;15901746;15782135;15666827;15666801;15657437;15611122;15588942;15580297;15572677;15572666;15489334;15337742;15280358;15231748;15192080;15133049;15123615;15028714;14702039;14701874;14611647;15561718;16148010;18408014;19217413;19218564;22162396;22318606;22449952;22555612;17066076;17533377;17540171;18806873;19604093;19906316;20159969;20351170;16029420;20016594;20016603;20711444;20936779;16421255;19394292;20209145;17369852;20203086;15907835;16127449;19074829;17283066;21338522;19965618;22969086;22990118;21467194;18274552;20966256;21676946;18624398;21925039;22661230;19843541;20805487;22406621;22539995;21527249;21717107;19471022;21139048;21693764;21906983;22321011;21252943;22283414;22578841;23080069;12171910;18566411;21963094;21988832;22505724;22972521;23275563;23377640;23202365;11257227;15208321;19692572;19766626;22797925 8554 B3KSY9;H3BS65;H3BSI8;H3BUL7;O75925 ABBA01038785;ABBA01038786;AC107871;AC135628;AF077951;AF167160;AK094641;AK314515;AMYH01006736;AY826819;BC053685;BC104646;BC118587;BC121797;CH471082;EF487997;EF487998;FJ997900;NM_016166;U78524 AAB58488;AAC36702;AAD49722;AAI18588;AAI21798;AAX18639;ABP49565;ABP49566;ACR77525;BAG37114;BAG52901;EAW77804;EAW77805;NP_057250;O75925 Hs.162458 1655705;1681097;1686098;1689845;1848103;2124833;2132922;2156284;2163217;2217744 D15S1092;PIAS1_3912;RH45656;RH46223;RH75732;RH76483;RH99183;SHGC-17413;SHGC-56913;WI-15121 DDXBP1;GBP;GU/RH-II;MGC141878;MGC141879;ZMIZ3 AR interacting protein;DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1;DEAD/H box-binding protein 1;E3 SUMO-protein ligase PIAS1;RNA helicase II-binding protein;gu-binding protein;protein inhibitor of activated STAT protein 1;protein inhibitor of activated STAT-1;zinc finger, MIZ-type containing 3 APPROVED protein-coding ENSG00000033800 2752 16029 603566 REVIEWED 1312894 PIBF1 progesterone immunomodulatory binding factor 1 13 13 q22.1 72254231 72488593 + 73356230 73590592 + 6480464 16433831;15489334;15305375;15269099;15057823;14634107;12477932;11935316;11407300;11329013;9266004;9138449;8607938;2600930;20367622;19290853;19371956;19898481;20936779;21832049;20360068;21632119;21139048;21224392;21906983;22032897;22172828;23110211 10464 Q8WXW3 ABBA01050336;ABBA01050337;ABBA01050338;ABBA01050339;AF330046;AK309828;AL354720;AL391384;AMYH01005201;AY370776;AY375528;BC006009;BC008432;BC041806;BC051911;BG201462;BX341357;CH471093;NM_006346;Y09631 AAH06009;AAH41806;AAH51911;AAL37481;AAQ67659;AAQ73282;CAA70844;EAW80522;EAW80523;NP_006337;Q8WXW3 Hs.441926 1339290;1661199;1713607;1727465;1758955;1766775;1772330;1782890;1848263;2142402;2189783;2189789;2189795;2189805;2189861;2189877;7183979 122g11FWD;126o3FWD;13g14FWD;173e24REV;33j8REV;42o17REV;D13S152;D13S745;G62990;RH120679;RH66028;RH68577;SHGC-151101;SHGC-152094;SHGC-154082;SHGC-8155 C13orf24;CEP90;KIAA1008;PIBF;RP11-505F3.1 OTTHUMP00000018501;progesterone-induced blocking factor 1;progesterone-induced-blocking factor 1 protein-coding ENSG00000083535 23352 06337 607532 VALIDATED 6480932 PIEZO1P2 piezo-type mechanosensitive ion channel component 1 pseudogene 2 20 57316245 57341389 - 100874493 ABBA01005970;AL132655;AMYH01012022;NG_032531 pseudo 42861 INFERRED 1318815 PIEZO1 piezo-type mechanosensitive ion channel component 1 Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The FAM38A gene encodes PIEZO1, a protein that induces mechanically activated (MA) currents in various cell types (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010] 16 16 16 q24.3 73852958 73920009 - 87309247 87351726 - 88781746 88851372 - 737633;1580863;6480464;7240710 12477932 18316326;18311491;17081983;16854388;16565220;14702039;10737800;9039502;23487776;20016066;20813920;21056836;21299953;21696149;22939629;21890473;21906983;22790451;21963094;22792288;23000965;23222517;22529292;23479567 9780 E7EUT2;H0YB49;H3BRR7;H3BSF6;H7C2J5;J3KQT3;Q92508 AA825468;AB161230;ABBA01015845;ABBA01015846;ABBA01015847;AC092384;AC138028;AK092007;AL582912;AMYH01007912;AMYH01007913;BC008073;BC016983;BC141877;BC150271;BE066337;CH471184;CQ834400;D87071;KC602455;NM_001142864 AAH08073;AAI50272;AGH27891;BAA13240;BAF03565;BAG10304;CAH05415;EAW66773;NP_001136336;Q92508 Hs.377001;Hs.592074 1340691;1676480;1736594;1783374;2138088;5014053;5022651 D11S2921;D16S2592E;D16S520;D1S3693;RH94123;SHGC-149930;SHGC-61047 DHS;FAM38A;KIAA0233;Mib OTTHUMP00000210574;family with sequence similarity 38, member A;membrane protein induced by beta-amyloid treatment;piezo-type mechanosensitive ion channel component 1;protein PIEZO1 APPROVED protein-coding ENSG00000103335 28993 10945 194380;611184 PROVISIONAL 1351580 PIEZO1P1 piezo-type mechanosensitive ion channel component 1 pseudogene 1 20 20 q13.32 54776406 54776624 - 58035674 58035892 - 128615 ABBA01005961;AL389889;AMYH01012026;NG_011695 C20orf83;FAM38CP;bA164D18.1 APPROVED pseudo 16214 INFERRED 1318687 PIAS4 protein inhibitor of activated STAT, 4 19 19 p13.3 3958749 3989067 + 4007749 4038067 + 1580863;1357941;2290530;6480464;6484113;6907045 14607831;16426581 11388671;15383276;9724754;11248056;18384750;18285457;17717071;17585876;17456046;17353273;16906147;16816390;16793547;16679534;16219678;16189514;15976810;15831457;15489334;15251447;15231748;15158472;15155784;14981544;14559918;12815042;12750312;12740389;12727872;12631292;12511558;12477932;11877418;11781839;11731474;11439351;8125298;22661230;21454665;20016594;20016603;20471636;20351170;20661221;19394292;19779455;20211142;20300531;12904571;17183683;17696781;18029348;18579533;20054338;20159969;15907835;18477566;22173230;21362625;21252943;16862185;19471022;19625650;20696768;21139048;21624955;21693764;21906983;21987572;22508508;19322201;15173587;18408014;22564762;22584572;15208321;22505724;22751435;22829926 51588 Q53H55;Q8N2W9 ABBA01002865;ABBA01002866;ABBA01056100;AC016586;AF077952;AF164437;AK022481;AK222726;AK315530;AMYH01009321;AMYH01009322;BC004389;BC010047;BC029874;BC066895;CH471139;NM_015897 AAC36703;AAD45155;AAH04389;AAH10047;AAH29874;AAH66895;ABM83345;ABM86559;BAD96446;BAG51076;EAW69273;NP_056981;Q8N2W9 Hs.105779 1654932;1684228 A004M07;RH91112 FLJ12419;MGC35296;PIASY;Piasg;ZMIZ6 E3 SUMO-protein ligase PIAS4;PIAS-gamma;protein inhibitor of activated STAT protein 4;protein inhibitor of activated STAT protein PIASy;protein inhibitor of activated STAT protein gamma;zinc finger, MIZ-type containing 6 protein-coding 17002 06910 605989 PROVISIONAL 69496 PICK1 protein interacting with PRKCA 1 The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.1 36783208 36801654 + 38453262 38471708 + 1580863;5131491;6480464 18491053 15304526;9883737;11343649;12138111;10623590;19219857;19086053;18692513;17914463;17606663;17367885;16713569;16314870;15811349;15489334;15461802;15458844;15305146;11237868;11007882;10839360;10591208;10340301;14702039;14550765;12941441;12826667;12597860;12578970;12529303;12508107;12477932;12399460;12065412;11891216;11802773;11739374;11641419;11278603;22275068;9405395;8125298;7844141;20384629;16712791;20385472;20562896;21988832;22436349;10027300;16055064;20018661;17553932;21690291;21890473;21949352;21139048;22303009;22710801 9463 B3KS52;E7EX80;F6TII1;F6V107;F6V3V1;F6VY12;Q9NRD5 AB026491;ABBA01055501;ABBA01055502;AF231710;AK000875;AK092818;AK222640;AK299684;AK308792;AK310629;AL031587;AL049654;AL137355;AMYH01012758;BC017561;CB141073;CH471095;CN482899;CR456550;NM_001039583;NM_001039584;NM_012407 AAF97502;AAH17561;ABM84036;ABM87383;BAA89294;BAD96360;BAG50834;BAG52614;BAG61591;CAB41082;CAG30436;CAK54581;CAK54880;EAW60207;EAW60208;EAW60209;EAW60210;EAW60211;EAW60212;EAW60213;NP_001034672;NP_001034673;NP_036539;Q9NRD5 Hs.180871 2186501 G18158 MGC15204;PICK;PRKCABP OTTHUMP00000199277;OTTHUMP00000199289;OTTHUMP00000199291;PRKCA-binding protein;protein interacting with C kinase 1;protein kinase C, alpha binding protein;protein kinase C-alpha-binding protein;protein that interacts with c kinase 1 APPROVED protein-coding ENSG00000100151 9394 16176 605926 REVIEWED 732553 PICALM phosphatidylinositol binding clathrin assembly protein This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 11 11 q14 85346133 85457756 - 85668214 85780923 - 1600760;1580863;6480464;7240710 12461747 10436022;18182011;18094714;18074379;18037964;17804713;22064352;17597474;17170719;17097559;16491119;16262731;15489334;15146197;14702039;12477932;10926122;9737689;8643484;1547942;15182197;20558387;20570404;20697030;20739100;21460841;20554627;20838239;20738160;20951388;21059989;11425879;14985334;18029348;19450545;19734902;20460622;20534741;20674675;21300948;21221849;21627779;22939629;22715855;23382074;21220176;21297266;23487024;23650005;21965661;21912625;23040034;21987572;21139048;21706055;21890473;21906983;22015308;22539578;22558309;21347408;22539346;20963938;21358043;22832961;22402018;22889924;19738201;21963094;21988832;22623428;22888099;22943764;22952074;22639918 8301 E9PI56;E9PJT1;E9PK13;E9PKP6;E9PLJ8;H0YCY1;H0YD48;H0YE97;H0YEF7;H0YEH1;H0YEY8;Q13492 AB210017;AB451308;ABBA01017328;ABBA01017329;ABBA01017330;ABBA01017331;AF060939;AF060940;AK128786;AK291414;AK297062;AK300275;AMYH01003848;AP000767;AY326466;BC048259;BC064357;BC073961;CA415536;CH471076;CN310579;DC300074;EF051633;NG_028942;NM_001008660;NM_001206946;NM_001206947;NM_007166;U45976 AAB07762;AAC16711;AAC16712;AAH48259;AAH64357;AAH73961;AAR99516;ABK54356;BAE06099;BAF84103;BAG59583;BAG62035;BAG70122;EAW75118;EAW75119;EAW75120;EAW75121;EAW75122;EAW75123;EAW75124;EAW75125;EAW75126;EAW75127;EAW75128;NP_001008660;NP_001193875;NP_001193876;NP_009097;Q13492 Hs.163893 1673130;1674401;1679662;1716625;1768793;1770329;1851739;1853705;2135376;2156419 D11S3967;RH121569;RH44979;RH66557;RH68651;RH91128;SGC33091;SHGC-24065;SHGC-35169;WI-11672 CALM;CLTH;LAP OTTHUMP00000234630;OTTHUMP00000234631;OTTHUMP00000234633;OTTHUMP00000234635;OTTHUMP00000234637;clathrin assembly lymphoid myeloid leukemia protein;clathrin assembly lymphoid-myeloid leukemia;phosphatidylinositol-binding clathrin assembly protein APPROVED protein-coding ENSG00000073921 15514 04320 601626;603025 REVIEWED 1345467 PIEZO2 piezo-type mechanosensitive ion channel component 2 Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The PIEZO2 protein has a role in rapidly adapting mechanically activated (MA) currents in somatosensory neurons (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010] 18 18 18 p11.22 10552160 11030879 - 10660850 10687814 - 10670244 11148761 - 1580863;6480464 14702039;20813920;15146197;16344560;22921401;21056836;21299953;23000965;23487782;21866343;23259602;23319000;23377640;23400010 63895 E7EVM7;J3KRQ5;J3KRW1;J3KSM7;J3QLJ9;Q6ZS91;Q9H5I5 ABBA01073980;ABBA01073981;ABBA01073982;ABBA01073983;ABBA01073984;ABBA01073985;ABBA01073986;AK026797;AK027056;AK092226;AK095053;AK127627;AK302764;AMYH01008811;AMYH01008812;AMYH01008813;AMYH01008814;AMYH01008815;AP001180;AP005117;AP005120;AP005404;AP005793;BF509086;BI829775;CN287196;CR747105;DB319508;DV080248;DV080444;DV080488;EG327967;JN790819;NM_022068 AAI48380;AFC88283;BAB15556;BAB15641;BAC03832;BAC87063;BAH13798;NP_071351;Q9H5I5 Hs.436902 1334698;1659251;1671379;1685017;1710402;1714221;1721267;1721877;1740253;1757321;1758735;1766727;1774152;2108081;2137781;2138167;5019863 A004Q08;D18S1083;D18S1158;D18S1299;D18S1326;FAM38B__7631;G54576;G59630;G59969;RH119721;RH65022;SHGC-144721;SHGC-151057;SHGC-152001;SHGC-82479;WI-18080;WI-20202 C18orf30;C18orf58;FAM38B;FAM38B2;FLJ23144;FLJ23403;FLJ25916;FLJ34907;FLJ37734;FLJ45725;HsT748;HsT771 OTTHUMP00000162403;family with sequence similarity 38, member B;family with sequence similarity 38, member B2;piezo-type mechanosensitive ion channel component 2;protein PIEZO2 APPROVED protein-coding ENSG00000154864 26270 07636 613629 PROVISIONAL 1350762 PIGAP1 phosphatidylinositol glycan anchor biosynthesis, class A, pseudogene 1 12 12 12 q21 100637750 100641788 + 99496568 99499934 + 100972412 100976450 + 8081362 5278 ABBA01053252;AC010200;AMYH01004697;NG_001174;X77457 1702224 GDB:604488 phosphatidylinositol glycan, class a, pseudogene 1 pseudo 8958 INFERRED 1605994 PID1 phosphotyrosine interaction domain containing 1 2 2 2 q36.3 223664258 223911580 - 229596933 229844301 - 229888689 230136057 - 6480464 22284633;20205790;19079291;17124247;16815647;15489334;15221005;14702039;12477932;8889548;20165904;21107309;19849947;20010835;20140872;18029348;22968630;23284291 55022 F5H314;Q7Z2X4 AB075874;ABBA01050150;ABBA01050151;ABBA01050152;ABBA01050153;AC006368;AC006375;AC007677;AK000708;AK096636;AK125359;AMYH01011544;AY317148;BC040164;BU727693;CH471063;DB474424;NM_001100818;NM_017933 AAH40164;AAP79437;AAX88839;AAY14947;BAA91333;BAC86145;BAD38656;BAG53344;EAW70891;NP_001094288;NP_060403;Q7Z2X4 Hs.745038 1337859;1673749;1697576;1705472;1715285;1722211;1757801;1767969;1776821;2116130;2137202;2137204;2139294;2150282;2187629;5095772 D2S2052;D2S2213;D2S2745;G60009;G60553;RH102298;RH11720;RH120473;RH16443;RH36403;RH45521;RH45529;SHGC-146554;SHGC-34101;SHGC-34399;SHGC-83823 FLJ20701;HMFN2073;NYGGF4;P-CLI1;PCLI1 OTTHUMP00000164248;OTTHUMP00000204185;P-CLI1;PTB-containing, cubilin and LRP1-interacting protein;phosphotyrosine interaction domain-containing protein 1 protein-coding ENSG00000153823 26084 07944 612930 VALIDATED 1343508 PIGCP1 phosphatidylinositol glycan anchor biosynthesis, class C, pseudogene 1 11 11 11 p13 33243330 33244962 - 33054166 33054582 - 33096632 33098264 - 9325057 5280 AB000359;ABBA01060898;AC131263;AMYH01003482;NG_001175 1649103 G17571 phosphatidylinositol glycan, class c, pseudogene 1 pseudo 8961 INFERRED 7241620 PIGCP2 phosphatidylinositol glycan anchor biosynthesis, class C pseudogene 2 100128307 AACC02000004;ABBA01057902;AC005046;AMYH01017831;CH236947;NG_022571 2177308 DRA pseudo 45149 INFERRED 1323429 PIDD p53-induced death domain protein The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] 11 11 p15.5 789179 795245 - 799179 805250 - 1580863;6480464 10825539;15073321;18238895;17637755;17437012;17329820;17159900;16982033;16652156;16360037;16189514;15489334;15146197;14702039;12477932;10973264;20406701;20395368;19060904;20208132;20966961;21371439;21415862;22854598 55367 E9PPT6;H0YE55;Q9NRE6 AB208832;AB208949;AB209529;ABBA01015210;AF229178;AF274972;AF465246;AK074893;AL833849;AMYH01003295;AP006621;BC014904;BG723687;BQ059356;BQ214414;BQ924290;BX349115;CH471158;CN427944;CN427946;NM_145886;NM_145887 AAF69491;AAG13461;AAH14904;AAP97716;ABW03662;BAC11272;BAD92069;BAD92186;BAD92766;CAD38708;EAX02390;EAX02391;EAX02392;NP_665893;NP_665894;Q9HB75 Hs.592290 1673941;1724831 RH123677;SGC30389 DKFZp434D229;LRDD;MGC16925 OTTHUMP00000164429;OTTHUMP00000229971;leucine-rich and death domain containing;leucine-rich repeat and death domain-containing protein;leucine-rich repeats and death domain containing;p53-induced death domain protein;p53-induced protein with a death domain APPROVED protein-coding ENSG00000177595 16491 11284 605247 REVIEWED 1347332 PIGFP1 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 1 5 5 5 q35 173976503 173977397 + 178281608 178282518 + 178349021 178349915 + 8575782 5282 ABBA01010009;AC104117;AMYH01015947;D49727;NG_001176 phosphatidylinositol glycan, class f, pseudogene 1 pseudo 8963 INFERRED 7241771 PIGFP2 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 2 100422349 ABBA01043735;AL390774;AMYH01021699;NG_023955 pseudo 45150 INFERRED 7241732 PIGFP3 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 3 100129049 ABBA01072894;AC129352;AMYH01022188;NG_022588 1669333;2118367 DXS8362;G10456 pseudo 45151 INFERRED 1316743 PIF1 PIF1 5'-to-3' DNA helicase PIF1 is a 5-prime-to-3-prime DNA helicase that negatively regulates telomerase (see TERT; MIM 187270), a reverse transcriptase that maintains telomere length (Zhang et al., 2006 [PubMed 16522649]).[supplied by OMIM, Mar 2008] 15 15 q22.31 62894884 62904891 - 65107831 65117838 - 6480464 16522649;18835853;17827721;17172855;14702039;12477932;10926538;20524933;19700773;21616935;23596008;22347400 80119 B2RPL7;Q9H611 AB185926;AB185927;ABBA01038870;AC091582;AF108138;AK026345;AMYH01006713;AY498716;BC018978;BC033254;BC137503;BC137504;CH471082;DQ437529;EU084033;NM_025049 AAD44047;AAI37504;AAI37505;AAS77398;ABD92708;ABW71293;BAB15456;BAE47454;BAE47455;EAW77694;EAW77695;EAW77696;NP_079325;Q9H611 Hs.112160 1783204;1851047;5022200;5022578;5037552;5491571;7186442 D15S1318;D1S1423;D8S2279;L18426;MARC_21552-21553:1044288241:1;SHGC-149483 C15orf20;PIF ATP-dependent DNA helicase PIF1;DNA helicase PIF1;DNA helicase homolog PIF1;OTTHUMP00000163927;OTTHUMP00000163928;PIF1 5'-to-3' DNA helicase homolog;PIF1 DNA helicase;PIF1/RRM3 DNA helicase-like protein;chromosome 15 open reading frame 20;petite integration frequency 1 APPROVED protein-coding ENSG00000140451 26220 10715 610953 VALIDATED 1604536 PIFO primary cilia formation 1 1 1 p13.2 110136149 110142593 + 111690771 111697158 + 111889195 111895639 + 6480464 12477932;8889549;8889548;20643351 128344 Q8TCI5 AA021608;ABBA01068397;AI198934;AK074433;AK303897;AK310801;AL356387;AMYH01000946;BC029237;BC050319;BC068603;BC093891;BC101501;BU686257;CH471122;HM237139;HM237140;NM_181643 AAH29237;AAH50319;AAH93891;AAI01502;ADI86276;ADI86277;BAB85081;BAG64829;EAW56489;NP_857594;Q8TCI5 Hs.172510 1651627;1692678;1851264;2154359 AL034107;D1S1781E;G30959;SHGC-75298 C1orf88;FLJ23853;MGC126550;RP5-1125M8.4;pitchfork OTTHUMP00000012867;OTTHUMP00000012868;hypothetical protein LOC128344;pitchfork;pitchfork homolog;protein pitchfork;uncharacterized protein C1orf88 APPROVED protein-coding ENSG00000173947 27009 14040 614234 VALIDATED 7241607 PIGHP1 phosphatidylinositol glycan anchor biosynthesis, class H pseudogene 1 644761 ABBA01038956;AC092755;AMYH01006685;NG_022130;NG_029765 1683162;1721427;2124801;2137189 G59565;RH65383;SHGC-57103;WI-7305 pseudo 45152 INFERRED 1322738 PIGC phosphatidylinositol glycan anchor biosynthesis, class C This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008] 1 1 1 q23-q25 145520042 145522675 - 170677220 170679853 - 172410597 172413230 - 1580863;6480464;6907045 11102867;8806613;16710414;15489334;12655644;12477932;10944123;9463366;9325057;8900170;7566098;16169070;20935629;21900206 5279 Q92535;Q9Y476 AA372370;AB000360;ABBA01027919;AK308201;AMYH01001498;BC006539;BC063473;BG106700;BT006734;CH471067;CR450292;D85418;NM_002642;NM_153747;Z97195 AAH06539;AAP35380;BAA12812;BAA22866;CAG29288;EAW90925;EAW90926;EAW90927;EAW90928;NP_002633;NP_714969;Q92535 Hs.188456 1693792;1854382;2108367;2123948 D1S1860E;PIGC_8542;RH12889;SHGC-58931 GPI2;MGC2049 OTTHUMP00000032652;OTTHUMP00000032653;PIG-C;phosphatidylinositol N-acetylglucosaminyltransferase subunit C;phosphatidylinositol-glycan biosynthesis class C protein;phosphatidylinositol-glycan biosynthesis, class C protein APPROVED protein-coding ENSG00000135845 8960 03433 601730 REVIEWED 1607087 PIGA phosphatidylinositol glycan anchor biosynthesis, class A This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010] X X p22.1 15247499 15263581 - 15337573 15353676 - 6480464;6907045;7240710 8557259;16162815;11102867;19074066;19013003;17823237;16923549;16344560;15687243;15489334;14702039;12477932;12424196;12411324;12130519;12037021;10944123;10087994;9463366;8900170;8500164;8306954;8193350;8167330;8081362;8081230;7680492;21116280;15625823;19540188;20034593;20060400;20533382;22315493;22305531;19322201;21963094 5277 B3KUV7;P37287 ABBA01071290;ABBA01071291;ABBA01071292;AC095351;AK098047;AK290497;AK303538;AK304144;AK315063;AMYH01022105;BC038236;BM998465;BQ026877;CH471074;CX870731;D11466;D28791;DA951065;DC347872;NG_009786;NM_002641;NM_020473;NR_033835;NR_033836;S61523;S74936;X77729 AAD13929;AAD14160;AAH38236;ADZ15406;BAA02019;BAA05966;BAF83186;BAG37537;BAG53569;BAG64564;BAG65037;EAW98879;EAW98880;EAW98881;EAW98882;EAW98883;EAW98884;NP_002632;NP_065206;P37287 Hs.137154 1702128;1702224;1702302;1745389;1853483;2107503;2148432;2174371;5106100 DXS1296;GDB:604019;GDB:604486;GDB:604488;PIGA;PIGA__6990;SHGC-30072;STS-D11466;WI-13794 GPI3;MCAHS2;PIG-A GLCNAC-PI synthesis protein;GPI anchor biosynthesis;OTTHUMP00000022959;class A GlcNAc-inositol phospholipid assembly protein;phosphatidylinositol N-acetylglucosaminyltransferase subunit A;phosphatidylinositol-glycan biosynthesis, class A protein APPROVED protein-coding ENSG00000165195 8957 02410 300818;300868;311770 REVIEWED 1316334 PIGB phosphatidylinositol glycan anchor biosynthesis, class B This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008] 15 15 15 q21.3 32499706 32536418 + 53398425 53435138 + 55611133 55647846 + 1580863;6480464;6907045 8861954;11102867;18198489;16344560;15489334;14702039;12477932;12058346;8125298;7907094;20379614 9488 F5H1S1;H3BNW7;H3BQU3;H3BRK6;H3BS45;Q92521 ABBA01039027;ABBA01039028;ABBA01039029;ABBA01039030;AC018926;AK093138;AK223330;AK293666;AK314706;AMYH01006666;BC017711;CH471082;CQ834302;D42138;DA598474;NM_004855 AAH17711;BAA07709;BAD97050;BAG37253;BAG57112;CAH05366;EAW77480;NP_004846;Q92521 Hs.612814 1649459;1666777;1668480;1701574 D15S831;RH104421;SHGC-53386;WI-16128 GPI-MT-III;MGC21236;PIG-B GPI mannosyltransferase 3;GPI mannosyltransferase III;GPI-MT-III;PIG-B;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol-glycan biosynthesis class B protein APPROVED protein-coding ENSG00000069943 8959 04988 604122 REVIEWED 1351645 PIGF phosphatidylinositol glycan anchor biosynthesis, class F This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 p21-p16 46661917 46697755 - 46808413 46844251 - 1580863;6480464;6907045 8463218;15632136;11102867;18805052;18466718;17964973;17028267;16794222;16702604;16702473;15489334;12477932;10781593;8575782;8081220;20673868;19201345;19658040;19712973;20416077;20452482;20966902;21448460 5281 E5RIN5;F8WEN5;H7C392;Q07326;Q6IB04 ABBA01075139;AC018682;AK291108;AMYH01010317;BC021725;BC029408;CH471053;CR457000;D13435;D49725;NM_002643;NM_173074 AAH21725;AAH29408;AAY14835;ABM83564;ABM86802;BAA02697;BAF83797;CAG33281;EAX00240;EAX00241;EAX00242;EAX00243;EAX00244;EAX00245;NP_002634;NP_775097;Q07326 Hs.468415 1665193;1682541;1725825;2120883;2152737;2180442;5024163;5109769 D14S659E;D2S2603;G31523;G62001;RH92629;SHGC-32727;SHGC-64130;WI-7257 MGC32646;MGC33136 GPI11 homolog;OTTHUMP00000159030;OTTHUMP00000159031;PIG-F;phosphatidylinositol glycan, class f;phosphatidylinositol-glycan biosynthesis class F protein APPROVED protein-coding ENSG00000151665 8962 02539 600153 REVIEWED 1322902 PIGH phosphatidylinositol glycan anchor biosynthesis, class H This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 14 14 14 q24.1 48115088 48126092 - 67125776 67136770 - 68056023 68067017 - 1580863;6480464;6907045 11102867;8900170;15489334;15342556;12477932;9463366;8407896;8204896;17207965;18029348;10944123;21103663;22505724 5283 B4DEE2;H0YKI1;H0YKZ3;H0YLD0;H0YLY9;H0YMT4;H0YMV4;H0YNL7;Q14442 ABBA01023708;AI633958;AK314108;AL132640;AMYH01005815;BC004100;BC071849;BP244435;BT006804;CH471061;L19783;NM_004569 AAA03545;AAH04100;AAH71849;AAP35450;ADQ32792;BAG36801;EAW80941;EAW80942;NP_004560;Q14442 Hs.553497 1661521;1683162;1721427;2107505;2110661;2124801;2137189;2167886;2175770 G35662;G59565;PIGH__6991;PLEKHH1__5720;RH17629;RH65383;RH68731;SHGC-57103;WI-7305 GPI-H OTTHUMP00000246879;PIG-H;phosphatidylinositol N-acetylglucosaminyltransferase subunit H;phosphatidylinositol glycan, class H;phosphatidylinositol-glycan biosynthesis class H protein;phosphatidylinositol-glycan biosynthesis, class H protein APPROVED protein-coding ENSG00000100564 8964 02540 600154 REVIEWED 1603213 PIGG phosphatidylinositol glycan anchor biosynthesis, class G 4 4 4 p16.3 434691 474916 + 483010 523312 + 492989 533320 + 6480464;6907045 15632136;11102867;16344560;16303743;15489334;14702039;12975309;12477932;19724895;19851296;20198315;21832049;21890473;21906983 54872 B4DKC7;D6R9J9;D6RC16;D6RD39;D6RFE8;E7EM50;E7EWV1;Q8NCI4;Q9NXG5 AB162713;ABBA01019328;ABBA01019329;AC092574;AC116565;AK000272;AK027465;AK074715;AK074815;AK097244;AK296507;AK309107;AL137741;AL157494;AL162084;AMYH01013834;AW451782;AY358538;BC000937;BC001249;BC050262;BC110878;BC144576;CH471131;CQ782750;DA548833;NM_001127178;NM_017733 AAH00937;AAH01249;AAI10879;AAQ88902;BAA91046;BAB55130;BAC04984;BAC11157;BAC11227;BAD89023;BAG59139;CAF85981;CAH10692;EAW82663;EAW82664;EAW82665;NP_001120650;NP_060203;Q5H8A4 Hs.7099 1847369;2148241;2178270 D4S2526E;RH18252;SHGC-59788 DKFZp434A1810;DKFZp434C1712;DKFZp434M1131;FLJ20265;FLJ39925;GPI7;LAS21;MGC131903;PRO4405;RLGS1930 GPI ethanolamine phosphate transferase 2;GPI7 homolog;OTTHUMP00000140261;OTTHUMP00000216586;OTTHUMP00000216587;OTTHUMP00000216592;PIG-G;hGPI7;phosphatidylinositol glycan, class G;phosphatidylinositol-glycan biosynthesis class G protein protein-coding ENSG00000174227 25985 07890 VALIDATED 7241612 PIGPP3 phosphatidylinositol glycan anchor biosynthesis, class P pseudogene 3 100128033 ABBA01019215;AL034549;AMYH01011861;NG_030237 pseudo 45155 INFERRED 1315550 PIGK phosphatidylinositol glycan anchor biosynthesis, class K This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008] 1 1 1 p31.1 75794094 75924500 - 77327254 77457720 - 77554666 77685132 - 1580863;6480464;6907045 10793132;11483512;1846368;12582175;16710414;16344560;15489334;14702039;12802054;12616539;12477932;12052837;11278620;10727241;9356492;8978684;17207965;22939629;16196087;21139048;21906983 10026 A6NEM5;B1AK81;B4E2M3;Q92643 ABBA01074403;AC093433;AC113935;AF022913;AK055071;AK304340;AK313015;AL035409;AMYH01000719;AMYH01000720;BC020737;BC026186;BX648473;CH471059;DA263434;NM_005482;Y07596 AAB81597;AAH20737;ADQ32189;BAG35850;BAG65185;CAA68871;EAX06380;EAX06381;EAX06382;EAX06383;NP_005473;Q92643 Hs.178305 1341145;1687710;1716905;1717035;1722657;1726885;2108867;2179883;2185309;5110843;7186287 D1S216;G60412;G62685;PIGK_9029;RH121835;RH124080;RH81087;SHGC-75019;SHGC-75037;STS-Y07596 GPI8;MGC22559 GPI transamidase subunit;GPI-anchor transamidase;GPI8 homolog;OTTHUMP00000011255;OTTHUMP00000011256;OTTHUMP00000011257;PIG-K;phosphatidylinositol glycan, class K;phosphatidylinositol-glycan biosynthesis class K protein APPROVED protein-coding ENSG00000142892 8965 05474 605087 REVIEWED 1346161 PIGM phosphatidylinositol glycan anchor biosynthesis, class M This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 133065903 133070225 - 158264086 158268407 - 159997462 160001783 - 70624;1580863;6480464;6907045;7240710 11226175 11102867;16767100;16710414;16303743;15489334;12477932;15635094;19322201 93183 Q9H3S5 AB028127;ABBA01016617;AK074655;AL513302;AMYH01001448;BC001803;BC011395;BC019865;BX643162;CH471121;CQ783538;CQ834396;NG_012238;NM_145167 AAH01803;AAH19865;BAB18567;BAC11116;CAF86713;CAH05413;EAW52751;EAW52752;NP_660150;Q9H3S5 Hs.552810 1647989;1769801;2169958;5037552 D8S2279;RH68788;RH68891;STS-Z40760 GPI-MT-I;MGC29896 DPM:GlcN-(acyl-)PI mannosyltransferase;GPI mannosyltransferase 1;GPI mannosyltransferase I;OTTHUMP00000025755;PIG-M mannosyltransferase;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol-glycan biosynthesis class M protein APPROVED protein-coding ENSG00000143315 18858 15133 610273;610293 REVIEWED 1342664 PIGL phosphatidylinositol glycan anchor biosynthesis, class L This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008] 17 17 17 p12-p11.2 16023433 16132500 + 16061234 16170298 + 16120509 16229573 + 1580863;6480464;6907045 10085243;11102867;15489334;14742432;14702039;12477932;9188481;17207965;22444671;22959728 9487 A8MTV0;B4DJK6;B4DYN4;J3KRR5;J3KSD1;J3QLG8;J3QQI7;M0QYT4;Q9Y2B2 AB017165;ABBA01035656;ABBA01035657;ABBA01035658;ABBA01035659;ABBA01035660;ABBA01035661;AC005971;AI888858;AK023469;AK292932;AK296120;AK302523;AMYH01008147;BC068197;BX404762;CH471222;NG_032651;NM_004278 AAH68197;ADQ32060;BAA74775;BAF85621;BAG58868;BAG63796;EAX04497;EAX04498;NP_004269;Q9Y2B2 Hs.499793;Hs.625050 1669172;1690422;1736921;2114968;2124914;2130325;5015619;5037552 D11S3114;D17S1527;D17S1568;D17S2037;D8S2279;RH91147;SHGC-24126;WI-18028 CHIME N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase;N-acetylglucosaminylphosphatidylinositol deacetylase;OTTHUMP00000065643;OTTHUMP00000065644;PIG-L;phosphatidylinositol glycan, class L;phosphatidylinositol-glycan biosynthesis class L protein APPROVED protein-coding ENSG00000108474 8966 12071 280000;605947 REVIEWED 1316260 PIGP phosphatidylinositol glycan anchor biosynthesis, class P This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 21 21 21 q22.2 23636029 23643823 - 37359534 37367328 - 38437664 38445458 - 1580863;6480464;6907045 11102867;15489334;15221505;12477932;11331941;10944123;10907851;10830953;10814524;20379614 51227 C9JKT1;Q9NZA6 AB035742;AB035743;AB035744;AB035745;AB037162;AB037163;AB037164;AB039659;AB451328;AB451472;ABBA01057411;AF216305;AF237812;AI127387;AK026311;AK304656;AK314457;AK316609;AMYH01012231;AP000704;AP001429;AP001431;AP001727;BC005180;BC011007;BE275469;BT007053;CH471079;NM_153681;NM_153682;NR_028352 AAF32289;AAG09757;AAH05180;AAH11007;AAP35702;BAA95512;BAA95633;BAA95634;BAA95635;BAA95636;BAA96871;BAA96872;BAA96873;BAB12395;BAG37065;BAG38196;BAG65431;BAG70142;BAG70286;EAX09724;EAX09725;EAX09726;EAX09727;EAX09728;NP_710148;NP_710149;P57054 Hs.656565;Hs.716087 2109251 DSCR5_9688 DCRC;DCRC-S;DSCR5;DSRC Down syndrome critical region gene 5;Down syndrome critical region protein 5;Down syndrome critical region protein C;OTTHUMP00000109075;OTTHUMP00000109076;OTTHUMP00000109077;OTTHUMP00000109078;OTTHUMP00000109079;PIG-P;phosphatidylinositol N-acetylglucosaminyltransferase subunit P;phosphatidylinositol glycan, class P;phosphatidylinositol-glycan biosynthesis class P protein;phosphatidylinositol-n-acetylglucosaminyltranferase subunit APPROVED protein-coding 3046 05806 605938 REVIEWED 1322753 PIGN phosphatidylinositol glycan anchor biosynthesis, class N This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008] 18 18 18 q21.33 56430705 56573517 - 57862437 58005269 - 59711457 59854289 - 1580863;6480464;6907045 10069808;11102867;16344560;16341674;15489334;12477932;10574991;8889548;19690890;20379614;21493957;21903422;19322201;22876578 23556 K7EID9;K7EJM6;K7EK83;K7EL34;K7ELE1;K7EM45;K7EM62;K7EMD7;K7ENC3;K7ENK2;K7EPJ2;K7EPN0;K7EQ07;K7EQG0;K7ERX5;K7ESH9;O95427 ABBA01056188;ABBA01056189;ABBA01056190;AC090354;AC090396;AF109219;AK000730;AK315134;AL137607;AMYH01009047;BC028363;BF112133;BM683126;BM830623;BQ023276;BU739970;CH471096;DB093302;DB239067;NG_033144;NM_012327;NM_176787 AAD11432;AAH28363;ADZ15526;BAG37585;CAB70839;EAW63116;EAW63117;EAW63118;EAW63119;NP_036459;NP_789744;O95427 Hs.157031 1687816;1690011;1852688;1857488;2012646;2012682;2013176;2142132;2169459;2169461;2179818 A001Z15;G19812;REN77252;REN77270;REN77522;RH66563;RH80923;RH91991;SGC44499;SHGC-44499;STS-Z41050 MCAHS;MCAHS1;MCD4;MDC4;MGC26427;PIG-N GPI ethanolamine phosphate transferase 1;MCD4 homolog;phosphatidylinositol glycan, class n;phosphatidylinositol-glycan biosynthesis class N protein APPROVED protein-coding ENSG00000197563 8967 12085 606097;614080 REVIEWED 7241618 PIGUP1 phosphatidylinositol glycan anchor biosynthesis, class U pseudogene 1 100422342 ABBA01033831;AL356318;AMYH01021398;NG_023833 pseudo 45158 INFERRED 1319869 PIGO phosphatidylinositol glycan anchor biosynthesis, class O This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 9 9 9 p13.3 35020661 35028552 - 35078688 35086579 - 35088685 35096598 - 6480464;6907045 11102867;15489334;15164053;12975309;12477932;12044878;10781593;22683086;20379614;8889548;19913121;20628086;21832049;21963094;21139048;21890473;21906983 84720 Q8TEQ8 AB083625;ABBA01064997;AC004472;AK074064;AK090433;AL353795;AL833956;AMYH01019341;AW149348;AY358472;BC001030;BC013987;BC029271;BC036916;BC065282;BE139632;BI818120;BU727886;CD387014;CH471071;CR985224;CR991745;NG_031990;NM_001201484;NM_032634;NM_152850 AAC07985;AAH01030;AAH13987;AAH29271;AAH36916;AAH65282;AAQ88836;BAB84890;BAB89338;BAC03414;CAD38806;EAW58397;EAW58398;EAW58399;EAW58400;NP_001188413;NP_116023;NP_690577;Q8TEQ8 Hs.522099;Hs.735712 1651731;1665639;5015961;5017170;5037552 D15S1477;D8S2279;L29953;STS-T65159;WI-20557 DKFZp434M222;FLJ00135;HPMRS2;MGC20536;MGC3079;RP11-182N22.4 GPI ethanolamine phosphate transferase 3;OTTHUMP00000021324;OTTHUMP00000021325;PIG-O;phosphatidylinositol-glycan biosynthesis class O protein APPROVED protein-coding ENSG00000165282 23215 15134 614730;614749 REVIEWED 737525 PIGR polymeric immunoglobulin receptor This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009] 1 1 q31-q41 205168495 205186430 - 207101867 207119811 - 1580863;6480464;6484113 17353931;2920039;19338768;17460948;17428798;16740002;16335952;16288892;16272325;16086865;16048543;15972671;15864740;15530357;15265917;15084671;14660617;14644095;14631119;13679368;12740691;12654638;12546713;12477932;12213814;12186846;12183558;12165516;12121890;11832247;11714807;11579946;11509627;11376148;11034397;11030626;11012775;10809756;10556562;10540352;10229845;10227981;9237679;9182878;8455639;8125298;7989333;7107583;6526384;3917857;3197448;1940346;1859628;1682231;1355431;22053820;21454571;19913121;20628086;20829350;20360068;22025622;22022593;22145905;21965228;23128233 5284 P01833;Q8TE27 A52091;ABBA01048247;AC098935;AF261083;AF272149;AK225471;AK310199;AMYH01001680;AY178835;BC110061;BC110494;BC110495;CH471100;CR749533;M24559;NG_012927;NM_002644;S43449;S62403;X73079 AAA36102;AAB20203;AAB23176;AAF72193;AAI10495;AAI10496;AAN65630;CAA03384;CAA51532;CAH18339;EAW93515;EAW93516;NP_002635;P01833 Hs.497589 1652877;1668199;1754807;1764847;1792352;1792354;1847738;2135091;5014051;5015406;5016478;5022578;5037552 D1S1423;D1S3524;D8S2278;D8S2279;G15929;GDB:434012;PMC149362P1;PMC149362P2;RH69104;RH69956;SHGC-141724;SHGC-148408;SHGC-76265 FLJ22667;MGC125361;MGC125362 OTTHUMP00000034748;hepatocellular carcinoma associated protein TB6;hepatocellular carcinoma-associated protein TB6;poly-Ig receptor;polymeric immunoglobulin receptor APPROVED protein-coding ENSG00000162896 8968 01436 173880 REVIEWED 1347377 PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 16 16 16 p13.3 820410 834887 + 560005 574110 + 619968 634136 + 1580863;6480464;6907045 9729469;11102867;15616553;15489334;15231748;14702039;12477932;11418246;11157797;10944123;10373468;9463366;16344560;19851296;20198315;21890473;22993228 9091 B2RAU6;B8ZZ29;B8ZZ31;B8ZZC7;E7ERP4;H0YFM9;H7C336;J3QTH6;Q9BRB3 AB003723;ABBA01030361;ABBA01030362;AE006464;AF030177;AK055163;AK092073;AK300297;AK314361;AMYH01006995;AMYH01006996;AMYH01006997;AMYH01006998;BC006377;BC010094;CH471112;DA206420;NM_004204;NM_148920;R45240;Z98883 AAC32661;AAH06377;AAK61235;ABM83588;ABM86829;BAA24948;BAG36993;BAG52479;BAG62051;EAW85795;EAW85796;EAW85797;EAW85798;EAW85799;EAW85800;NP_004195;NP_683721;Q9BRB3 Hs.741878;Hs.744949 5118444 D11S3316 FLJ56783;GPI1;MGC12693;c407A10.1;hGPI1 N-acetylglucosaminyl transferase component Gpi1;N-acetylglucosamyl transferase component GPI1;OTTHUMP00000045525;OTTHUMP00000147598;OTTHUMP00000205086;OTTHUMP00000205087;OTTHUMP00000237697;PIG-Q;c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component));phosphatidylinositol N-acetylglucosaminyltransferase subunit Q;phosphatidylinositol glycan, class Q;phosphatidylinositol-glycan biosynthesis class Q protein APPROVED protein-coding ENSG00000007541 14135 09307 605754 REVIEWED 1352879 PIGW phosphatidylinositol glycan anchor biosynthesis, class W Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (Murakami et al., 2003 [PubMed 14517336]).[supplied by OMIM, Mar 2008] 17 17 17 q12 31713466 31717424 + 31965516 31969263 + 34891403 34895150 + 1299613;1580863;6480464;6907045 14517336 11102867;14702039;12714589;21890473;21906983 284098 C9JLC8;Q7Z7B1 AB097818;ABBA01012426;AC126327;AC233700;AK094752;AMYH01008361;CH471199;NM_178517 AAI56434;AAI60092;AAI72479;BAC04413;BAC77021;EAW57563;EAW57564;NP_848612;Q7Z7B1 Hs.378885 5024761 RH36905 FLJ37433;Gwt1 OTTHUMP00000164080;OTTHUMP00000164081;PIG-W;phosphatidylinositol glycan, class W;phosphatidylinositol-glycan biosynthesis class W protein APPROVED protein-coding ENSG00000184886 23213 11432 610275 VALIDATED 1316180 PIGT phosphatidylinositol glycan anchor biosynthesis, class T This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 20 20 20 q12-q13.12 40753217 40763395 + 43478138 43488298 + 44044707 44054885 + 1580863;6480464;6907045 11483512;15713669;1846368;16516892;16344560;16303743;15489334;12975309;12655644;12582175;12477932;12052837;11780052;11549316;11483580;10810093;8125298;16169070;22939629;21252943;21139048;21890473;22268729 51604 B7Z1N3;F5GWY0;H7C2Y2;Q9BQY7 AB057724;ABBA01052660;AF132940;AF305815;AK075469;AK225517;AK293294;AK293686;AK296063;AK296139;AK297830;AK299013;AK301815;AK302093;AK311100;AK311416;AK311492;AK311520;AK311522;AK316358;AL021578;AL121742;AMYH01011937;AY358588;BC015022;BC110892;BC136827;BC136828;BP392024;BX537612;CH471077;CS051295;DA037291;DC384944;DC399420;NM_001184728;NM_001184729;NM_001184730;NM_015937;NR_047691;NR_047692;NR_047693;NR_047694;NR_047695 AAD27715;AAH15022;AAI10893;AAI36828;AAI36829;AAK55518;AAQ88951;BAB60854;BAC11639;BAH11487;BAH11569;BAH12247;BAH12267;BAH12673;BAH12928;BAH13561;BAH13624;BAH14729;CAB57341;CAD97799;CAI72142;EAW75841;EAW75842;EAW75843;EAW75844;EAW75845;EAW75846;NP_001171657;NP_001171658;NP_001171659;NP_057021;Q969N2 Hs.437388 1672050;1685115;2130380;5015861;5022588;5022651;7185938 D10S16;D11S2921;D5S1597E;RH80364;STS-AA032233;WI-12135 CGI-06;FLJ41596;MGC8909;NDAP GPI transamidase component PIG-T;GPI transamidase subunit;OTTHUMP00000031110;OTTHUMP00000031112;neurotrophin-regulated neuronal development-associated protein;phosphatidyl inositol glycan class T;phosphatidylinositol-glycan biosynthesis class T protein APPROVED protein-coding ENSG00000124155 14938 15136 610272 REVIEWED 1354267 PIGS phosphatidylinositol glycan anchor biosynthesis, class S This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008] 17 17 17 p13.2 23739431 23757914 - 23904532 23922655 - 26880406 26898887 - 1580863;6480464;6907045 11483512;1846368;15713669;16344560;16303743;15489334;14702039;12975309;12802054;12582175;12477932;12052837;22939629;21139048;21890473;21906983;22268729 94005 F5H019;H0Y2N5;K7EN97;Q8NBL9;Q96IR5;Q96S52 AB057723;ABBA01015052;ABBA01015053;ABBA01015054;AC005726;AF161427;AK025825;AK055512;AK075428;AK127162;AK297046;AK314583;AMYH01008279;AW084841;AY359112;BC001319;BC007301;BC069228;BX640839;CH471159;CQ834886;DA591284;NM_033198 AAF28987;AAH01319;AAH07301;AAH69228;AAQ89470;BAB60853;BAB70938;BAC11615;BAG37159;BAG54444;BAG59572;CAE45912;CAH05658;EAW51099;EAW51100;EAW51101;EAW51102;EAW51103;NP_149975;Q96S52 Hs.462550 1663292;1689640;1734534;1778430;2107827;5020948 ALDOC_8198;D17S1465E;D17S2156;G20535;G35510;RH17002 DKFZp686K20216;FLJ45226 GPI transamidase component PIG-S;GPI transamidase subunit;OTTHUMP00000163433;OTTHUMP00000163434;phosphatidylinositol glycan, class S;phosphatidylinositol-glycan biosynthesis class S protein APPROVED protein-coding ENSG00000087111 14937 15135 610271 REVIEWED 1347899 PIH pregnancy-induced hypertension (pre-eclampsia, eclampsia, toxemia of pregnancy included) 1550119 5285 8969 1349310 PIGV phosphatidylinositol glycan anchor biosynthesis, class V This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 1 1 1 p36.11 25511490 25521891 + 26987073 26997474 + 27114454 27124894 + 1580863;6480464;6907045;7240710 15623507;15720390;11102867;16710414;15489334;14702039;12477932;8125298;20802478;16344560;21739589;22228761;21890473 55650 B4DWP9;E9PQC7;Q9NUD9 ABBA01034925;ABBA01034926;AK000484;AK056539;AK225521;AK301626;AL034380;AMYH01000408;BC013568;BI463967;CH471059;CQ834324;CQ834446;CQ834448;CX867528;DA280125;NG_028133;NM_001202554;NM_017837 AAH13568;BAA91196;BAG63111;CAH05377;CAH05438;CAH05439;EAX07790;EAX07791;EAX07792;NP_001189483;NP_060307;Q9NUD9 Hs.259605;Hs.732254 1665572;2138720;2152121 D1S2522;D1S3416;SHGC-74476 FLJ20477;GPI-MT-II;HPMRS1;PIG-V;RP1-50O24.2 GPI mannosyltransferase 2;GPI mannosyltransferase II;GPI-MT-II;OTTHUMP00000004120;OTTHUMP00000004121;PIG-V;Ybr004c homolog;dol-P-Man dependent GPI mannosyltransferase;phosphatidylinositol glycan, class V;phosphatidylinositol-glycan biosynthesis class V protein APPROVED protein-coding ENSG00000060642 26031 07912 239300;610274 REVIEWED 1352875 PIGU phosphatidylinositol glycan anchor biosynthesis, class U The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008] 20 20 20 q11.22 29897474 30014189 - 32612007 32728750 - 33148346 33265089 - 1580863;6480464;6907045 12802054;1846368;11483512;15034568;18488026;16303743;15489334;14660601;12975309;12477932;11780052;20224305;21048031;22939629;21139048;21890473;21906983;21963094;23000965;22505724 128869 E7EVL4;Q5JWU1;Q9H490 AB086842;ABBA01019189;ABBA01019190;ABBA01019191;AK075507;AK301900;AK308627;AL118520;AMYH01011863;AMYH01011864;AMYH01011865;AY339061;AY358816;AY422169;BC030512;CH471077;NG_011497;NM_080476 AAH30512;AAQ18022;AAQ89175;AAR23798;ACE86610;ACE87291;BAC11660;BAC53626;BAG63328;EAW76259;EAW76260;EAW76261;EAW76262;NP_536724;Q9H490 Hs.253319 1677210;1693420;1723889;1774439 AL034522;RH119466;RH46990;RH93624 CDC91L1;GAB1;MGC40420 CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1;GPI transamidase component PIG-U;GPI transamidase subunit;OTTHUMP00000030693;cell division cycle 91-like 1 protein;cell division cycle protein 91-like 1;phosphatidylinositol glycan anchor biosynthesis class U protein;protein CDC91-like 1 APPROVED protein-coding ENSG00000101464 15791 12250 608528 REVIEWED 1605909 PIGY phosphatidylinositol glycan anchor biosynthesis, class Y The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012] 4 4 4 q22.1 86738822 86741642 - 89661158 89663978 - 89442129 89444952 - 6480464;6907045 16162815;15489334;12477932;19302917;20877624;21890473;21988832;22925353 84992 Q3MUY2 AB206972;ABBA01063554;AC083829;AMYH01014386;BC007876;BI548853;DB519150;NM_001042616 AAH07876;BAE44507;NP_001036081;Q3MUY2 Hs.26136;Hs.743393 2132314 SHGC-59828 MGC14156;PIG-Y;PREY OTTHUMP00000161562;phosphatidylinositol N-acetylglucosaminyltransferase subunit Y;phosphatidylinositol glycan, class Y;phosphatidylinositol-glycan biosynthesis class Y protein;protein preY, mitochondrial APPROVED protein-coding ENSG00000255072 28213 17492 610662 REVIEWED 1353450 PIH1D3 PIH1 domain containing 3 X X X q22.3 106921219 106958830 + 106336518 106374129 + 106449862 106487473 + 737633 12477932 15489334;15772651;12601173 139212 Q9NQM4 ABBA01035871;ABBA01035872;ABBA01035873;ABBA01035874;ABBA01035875;AI147427;AL136112;AMYH01022827;AY211928;BC033510;CH471120;NG_016377;NM_001169154;NM_173494 AAH33510;AAO65181;EAX02716;EAX02717;NP_001162625;NP_775765;Q9NQM4 Hs.128836 CXorf41;MGC35261;NYSAR97 OTTHUMP00000023803;OTTHUMP00000023804;PIH1 domain-containing protein 3;hypothetical protein LOC139212;protein PIH1D3;sarcoma antigen NY-SAR-97;uncharacterized protein CXorf41 APPROVED protein-coding ENSG00000080572 28570 06650 VALIDATED 1343989 PIGX phosphatidylinositol glycan anchor biosynthesis, class X This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 3 3 3 q29 195019754 195043917 + 197923643 197947275 + 196439245 196462878 + 6480464;6907045 11102867;15635094;15489334;15146197;14702039;12477932;8889548;17207965;21906983 54965 A8MSL3;B4DFZ9;C9JF71;C9JFU3;C9JLT7;F8WEJ3;H0Y2P9;H7C081;H7C0F2;Q8TBF5 AA879458;ABBA01033752;ABBA01033753;AC055725;AK000529;AK294340;AMYH01013796;AMYH01013797;BC022542;BG715890;BQ130655;BU740645;CH471191;CN404010;NM_001166304;NM_017861 AAH22542;ADQ31691;BAA91233;BAG57610;EAW53638;EAW53640;NP_001159776;NP_060331;Q8TBF5 Hs.223296 1659108;1797112;5015621;5021872;5022651;5037552 D11S2921;D11S3732;D8S2279;FLJ20522;SHGC-77717;sY3084 FLJ20522 GPI-mannosyltransferase subunit;OTTHUMP00000208200;OTTHUMP00000208250;OTTHUMP00000208256;PIG-X;phosphatidylinositol-glycan biosynthesis class X protein APPROVED protein-coding ENSG00000163964 26046 07921 610276 REVIEWED 1602097 PIGZ phosphatidylinositol glycan anchor biosynthesis, class Z The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008] 3 3 3 q29 195259832 195282326 - 198157611 198180101 - 196673214 196695704 - 6480464;6907045 15208306;15489334;14702039;12655644;12477932;12200473;11356840;16344560 80235 C9JQX2;H7C2E0;Q86VD9 ABBA01033761;AC011322;AK022830;AK296867;AMYH01013799;BC018804;BC044640;BG760692;BX493581;CH471191;DA736224;NM_025163 AAH44640;BAB14263;BAG59430;EAW53618;NP_079439;Q86VD9 Hs.518403 1657212 WI-16659 FLJ12768;GPI-MT-IV;MGC52163;PIG-Z;SMP3 GPI mannosyltransferase 4;GPI mannosyltransferase IV;OTTHUMP00000208160;OTTHUMP00000208161;OTTHUMP00000208162;PIG-Z;SMP3 homolog;SMP3 mannosyltransferase;dol-P-Man dependent GPI mannosyltransferase;hSMP3;phosphatidylinositol glycan, class Z;phosphatidylinositol-glycan biosynthesis class Z protein APPROVED protein-coding ENSG00000119227 30596 18076 611671 REVIEWED 1605009 PIH1D2 PIH1 domain containing 2 11 11 11 q23.1 109087924 109098086 - 111439944 111450105 - 111934734 111944895 - 6480464 12477932;8889548;16712791;17207965 120379 B4DU48;E9PD82;H0YCC0;Q8WWB5 ABBA01039805;ABBA01039806;AI339257;AK300496;AMYH01004034;AP000907;BC019238;CA312666;CB159963;CH471065;NM_001082619;NM_138789 AAH19238;ADQ32663;BAG62210;EAW67177;NP_001076088;NP_620144;Q8WWB5 Hs.420662 1674920;1715823;2142120 RH119608;RH48835;WI-14848 OTTHUMP00000234436;OTTHUMP00000234437;OTTHUMP00000234438;OTTHUMP00000234439;PIH1 domain-containing protein 2 protein-coding ENSG00000150773 25210 14021 VALIDATED 1605995 PIH1D1 PIH1 domain containing 1 19 19 19 q13.33 46817056 46822614 - 54641368 54646879 - 49949550 49955115 - 6480464 16189514;15670595;12477932;8889549;20801936;21078300;17636026;17643375;19450687;17207965;19875381;22863883;22939629;14676191;21139048;21890473;21900206;20078948 55011 M0QXD5;M0QYA2;M0QYF4;M0QZ61;M0QZM3;M0QZZ1;M0R028;M0R0J2;M0R1R3;M0R2H3;M0R2P8;M0R3A4;M0R3A8;Q9NWS0 AA018444;ABBA01032928;AC010619;AK000650;AK294687;AK304476;AMYH01009912;BC001108;CH471177;DC385084;NM_017916 AAH01108;ACE87086;ADQ31733;BAA91307;BAG57848;BAG65289;EAW52486;EAW52487;NP_060386;Q9NWS0 Hs.5245 2135959;2159014 A002I45;RH16140 FLJ20643;NOP17 PIH1 domain-containing protein 1;nucleolar protein 17 homolog protein-coding ENSG00000104872 26075 07938 611480 VALIDATED 1317115 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 10 10 10 q24.1 92095475 92222660 - 98343059 98470269 - 98353069 98480279 - 6480464;6907045 16381901;15893754;15489336;14702039;12477932;11230166;11163197;11076863;18654987;1251844;22558309;16385451;20197460;21890473;20467438;21706016;21988832;23382691 118788 Q6ZUJ8;Q86YV3 ABBA01021828;AI826732;AK092883;AK122584;AK125635;AL138765;AL358235;AL591364;AMYH01002971;AMYH01002972;AMYH01002973;BC029917;BX648550;CB990570;CH471066;JA885118;NM_152309 AAH29917;BAC03996;BAC56925;BAC86227;CAL37947;CCQ77684;EAW49968;EAW49969;NP_689522;Q6ZUJ8 Hs.310456 1334757;1338006;1751455;1761325;1857530;2117711;2117713;2122181;2140053;2155353;7188975;7188981 A005C16;D10S1736;D10S574;D20S208;G20268;RH15746;RH45653;SHGC-105285;SHGC-145337;UniSTS:50411 BCAP;RP11-34E5.3 1810044J04Rik;B cell adaptor protein;B-cell adapter for phosphoinositide 3-kinase;B-cell phosphoinositide 3-kinase adapter protein 1;OTTHUMP00000020175;OTTHUMP00000020176;phosphoinositide 3-kinase adapter protein 1 protein-coding ENSG00000155629 30034 06401 607942 VALIDATED 735800 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The biological function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 12 12 p12 18305741 18692617 + 18414474 18801352 + 1580863;6480464;6907045 9878262;18996102;17991425;17893707;14602571;12477932;12077252;11994280;11156964;11154208;9708406;9516481;9514948;9446795;9394803;8798481;16081599;17157319;16524887;9808187;15689238;12960231;12551992;9341793;20602615;22318606;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;20019835;20818790;21029719;8636073;9247029 5288 F5GWG6;F5H369;F5H7Y7;O75747 ABBA01067922;ABBA01067923;AC087236;AC087240;AC091815;AC092851;AI478164;AJ000008;AMYH01004308;AMYH01004309;BC130277;BC144133;BC144134;BX092808;CH471094;NM_004570 AAI30278;AAI44135;CAA03853;EAW96387;NP_004561;O75747 Hs.22500 1663625;1666937;1699764;1716341;1724233;1726135;1752159;1775864;1782734;1847899;2133571 D12S1809;D12S2132;D2S2813;G62392;L29654;RH103488;RH121257;RH121621;SHGC-106077;SHGC-155945;WI-12697 MGC163149;PI3K-C2GAMMA OTTHUMP00000239607;PI3K-C2-gamma;PTDINS-3-kinase C2 gamma;phosphatidylinositol 3-kinase C2 domain-containing gamma;phosphatidylinositol 3-kinase, c2 domain containing, gamma polypeptide;phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit gamma;phosphoinositide 3-kinase-C2-gamma;phosphoinositide-3-kinase, class 2, gamma polypeptide;ptdIns-3-kinase C2 subunit gamma APPROVED protein-coding ENSG00000139144 8973 16416 609001 REVIEWED 1321266 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008] 11 11 p15.5-p14 17064698 17147930 - 17108122 17191354 - 1580863;6480464;6907045;7243008 21127054 17110375;17038310;16215232;15183893;14729612;14602571;14563213;12719431;12477932;12237112;12077252;11994280;11606566;11306805;11239472;11156964;11154208;10805725;10766823;10329640;9708406;9603905;9446795;9394803;8798481;17157319;16524887;9808187;15689238;12960231;12551992;16081599;9341793;10641798;9337861;19591801;19261849;18403640;17644513;21081650;17148452;19615732;20197460;20379614;20416519;20453000;20562859;17371240;21139048;21890473;21906983;21926974;17620599;20467438;21963094;22128329;23000965;23192342;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;20019835;20818790;21029719;22505724;8636073;9247029 5286 B4E2G4;E9PPP3;F5H2B0;L7RRS0;O00443 A89694;ABBA01061068;ABBA01061069;AC116533;AC126389;AK294416;AK299474;AK304262;AK309610;AK310248;AL049998;AL832699;AMYH01003413;BC031681;BC040952;BC113658;BX648778;CH471064;EU332862;JX512454;NM_002645;Y13367 AAI13659;ABY87551;ADR83442;AGC09601;BAG57666;BAG61438;BAG65126;CAA73797;CAB69383;EAW68447;NP_002636;O00443 Hs.175343 1679407;1697306;1697806;1750089;2143372;2181099 D11S4677;D11S4711;RH102150;RH102427;RH79759;SHGC-112334 CPK;DKFZp686L193;MGC142218;PI3-K-C2(ALPHA);PI3-K-C2A C2-containing phosphatidylinositol kinase;OTTHUMP00000231763;PI3K-C2-alpha;PI3K-C2alpha;phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha;phosphoinositide 3-kinase-C2-alpha;phosphoinositide-3-kinase, class 2, alpha polypeptide;ptdIns-3-kinase C2 subunit alpha APPROVED protein-coding ENSG00000011405 8971 04672 603601 VALIDATED 1315215 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008] 1 1 q32 202658384 202726097 - 204391758 204459474 - 1580863;6480464;6907045 16314532;16271833;16113997;14602571;14563213;12477932;12372612;12356726;12077252;11994280;11533253;11156964;11154208;9708406;9446795;9394803;9223670;9144573;8798481;8681137;8084603;17157319;16524887;9808187;15689238;12960231;12551992;16710414;9830063;10805725;17474147;18996102;16775008;16081599;9341793;15778465;22558309;19913121;20602615;20628086;19496756;19536175;19587117;20197460;20379614;23028960;23383273;22825724;15161933;21139048;21890473;21906983;21986133;22128329;21706016;21963094;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;19380743;20019835;20378550;20818790;21029719;22505724;8636073;9247029 5287 A2RUF7;F5GWN5;O00750;Q5SW97;Q5SW98;Q5SWA0 AB210006;ABBA01027443;ABBA01027444;ABBA01027445;ABBA01027446;AK308153;AL606489;AMYH01001663;BC094741;BC132876;BC136645;BC144342;CH471067;CR749201;EU332863;F17716;JX512455;NM_002646;Y11312;Y13892 AAI32877;AAI36646;AAI44343;ABY87552;AGC09602;BAE06088;CAA72168;CAA74194;CAH18059;EAW91513;EAW91514;NP_002637;O00750 Hs.497487 1662780;1846852;2141670;2176891;5015619;5037305;5037552 A006Z05;AL009631;D11S3114;D8S2279;PIK3C2B_7853;SHGC-76195;WI-11932 C2-PI3K;DKFZp686G16234 OTTHUMP00000034333;PI3K-C2-beta;PI3K-C2beta;PTDINS-3-kinase C2 beta;phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide;phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta;phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit beta;phosphoinositide 3-kinase-C2-beta;phosphoinositide-3-kinase, class 2, beta polypeptide;ptdIns-3-kinase C2 subunit beta APPROVED protein-coding ENSG00000133056 8972 04160 602838 REVIEWED 732994 PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 18 18 q12.3 37789197 37915446 + 39535199 39661448 + 1300048;4889529;6480464;6907045 20034776 7628435;7504174;14751759;18996102;18957027;18755982;18725540;18649358;18420347;18077426;18048384;17319803;16874027;16390869;16176982;16049009;15489334;15324660;15121481;14702039;14617358;14602571;12925680;12477932;12077252;11994280;11156964;11154208;9708406;9446795;9394803;8999962;8889548;8798481;16081599;17157319;16524887;9808187;15689238;12960231;12551992;9341793;22318606;20602615;20671926;20562859;12660731;20643123;17589504;19359265;19887755;20453000;18774718;21062745;20529838;20885446;21835792;21702994;15016378;20955765;22021616;22024166;22095288;22493499;21890473;21906983;21936852;22719072;18628207;15328530;23251661;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;20019835;20818790;21029719;8636073;9247029;19270696 5289 A8MYT4;K7EIV6;K7EKH3;K7ENH3;M0QXS9;M0QZG0;M0R0G8;M0R0U1;M0R0W7;M0R2C5;M0R308;M0R386;Q8NEB9 ABBA01022369;ABBA01022370;AC087683;AK022653;AK090567;AK298517;AK308364;AMYH01008959;BC010388;BC033004;BC053651;BI562123;CA945171;CH471088;NM_002647;Z46973 AAH33004;AAH53651;ABM84638;ABM92169;BAG60721;CAA87094;EAX01426;NP_002638;Q8NEB9 Hs.464971 1659845;1675730;1675732;1681536;1751121;2144041;2185879;5015961;5022322 D11S2560;D15S1477;D18S1071;RH45288;RH66029;RH74915;RH91807;SHGC-105035;SHGC-35582 MGC61518;VPS34;hVps34 OTTHUMP00000163416;PI3-kinase type 3;PI3K type 3;PtdIns-3-kinase type 3;phosphatidylinositol 3-kinase;phosphatidylinositol 3-kinase catalytic subunit type 3;phosphatidylinositol 3-kinase p100 subunit;phosphoinositide-3-kinase, class 3 APPROVED protein-coding 8974 04009 602609 VALIDATED 1345924 PIK3R1OS phosphoinositide-3-kinase, regulatory subunit 1, opposite strand q13.1 404543 L26969;L30106 Hs.132225 phosphoinositide-3-kinase, regulatory subunit 1, opposite strand;phosphoinositide-3-kinase, regulatory subunit, polypeptide 1, opposite strand protein-coding 31392 1322205 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010] 1 1 p36.2 9634377 9711759 + 9711790 9789172 + 1580863;2290458;6480464;6482696;6484113;6907045 17641274;18412166 9708406;9455486;9446795;9394803;8889549;8798481;16524887;9808187;15689238;17157319;12960231;12551992;16081599;9341793;10922060;16169070;12774123;9235916;17474147;9113989;18996102;18471882;18348712;18281552;17581634;17290298;17015696;16984281;16432180;15878979;15840695;15146197;14602571;12594293;12477932;12077252;11994280;11156964;11154208;10064595;22015454;22375552;19913121;20602615;20628086;10949031;20837746;11739523;19357769;19638627;20056178;20081091;20103642;20197460;20381852;19843950;20189103;20534549;22711705;23341541;23660190;21810603;21890473;21906983;22079609;22084313;22020336;22210877;22433439;17632516;22689948;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;19380743;20019835;20041213;20702582;20818790;21029719;21765914;8636073;9247029 5293 A7E2E0;F5H807;O00329;Q5SR50 AB208835;ABBA01035565;ABBA01035566;ABBA01035567;AK303425;AK314191;AL691449;AMYH01000241;BC030263;BC132919;BC132921;BC144264;BC150297;CH471130;CN313981;DQ263594;DQ263595;DQ263596;JN190435;NG_023434;NM_005026;U57843;U86453;W30913;Y10055 AAB53966;AAC25677;AAI32920;AAI32922;AAI44265;AAI50298;ABB83814;ABB83815;ABB83816;AEK81610;BAD92072;BAG36870;BAG64476;CAA71149;EAW71622;EAW71623;EAW71624;EAW71625;EAW71626;EAW71627;NP_005017;O00329 Hs.518451 1664765;1672123;1672125;1732958;1750677;1762535;1767855;2107507;2120973;2142598;2147876;2155124;2170324;2178392;5015861;7185938 A006Z42;D10S16;D1S1346;NIB2114;PIK3CD_7855;RH11792;RH50479;RH63840;SHGC-111989;SHGC-146345;SHGC-16182;SHGC-74173;SHGC-74191;WI-16255;WI-16324 P110DELTA;PI3K;p110D OTTHUMP00000001595;OTTHUMP00000001596;PI3-kinase p110 subunit delta;PI3-kinase subunit delta;PI3K-delta;PI3Kdelta;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform;phosphoinositide-3-kinase C;phosphoinositide-3-kinase, catalytic, delta polypeptide variant p37delta;ptdIns-3-kinase subunit delta;ptdIns-3-kinase subunit p110-delta APPROVED protein-coding ENSG00000171608 8977 602839 REVIEWED 732496 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 3 3 q22.3 139856921 139960875 - 138371540 138478201 - 1580861;1580863;1300048;2290458;6480464;6484113;6907045 15834429;17641274 21362552;10570282;12660731;19097921;18996102;18755892;18558630;18398029;18372911;18327411;18285463;17986385;17977952;17676480;17522703;16432180;16380997;16339315;16091017;15582274;15489334;15468162;15242975;14602571;12529960;12507995;12502714;12502677;12477932;12077252;12029088;11994280;11916960;11752399;11676480;11459796;11156964;11154208;10358930;9822674;9708406;9446795;9394803;8798481;8246984;8139559;7479742;2174051;16524887;17157319;9808187;15689238;12960231;12551992;16081599;9341793;15664519;19913121;21900206;12167717;14968112;19380768;19700402;19815551;20056178;20058239;20103642;20107106;20331378;20508983;10949031;21123564;20691427;21030680;20602615;20628086;21487106;21321382;21383062;22939629;21706016;23051731;23211529;21906983;19380743;15328530;23434372;23604317;22984590;22701645;10208934;10985305;11289809;12526811;12584329;14530346;17632570;18453587;18854243;20019835;20041213;20702582;20818790;21029719;21765914;8636073;9247029 5291 B4DER4;C9J345;C9JNF6;C9JYX0;F8WDJ8;H0Y871;H7C527;H7C565;H7C5C3;P42338;Q68DL0 ABBA01059085;ABBA01059086;ABBA01059087;ABBA01059088;ABBA01059089;AC020890;AC117389;AI623206;AJ297549;AK293754;AK302937;AMYH01013531;BC003393;BC022049;BC033948;BC045790;BC114432;CH471052;CR749357;NM_001256045;NM_006219;S67334 AAB29081;AAH03393;AAH22049;AAI14433;BAG57175;BAG64095;CAC21449;CAH18210;EAW79053;EAW79054;EAW79055;EAW79056;NP_001242974;NP_006210;P42338 Hs.239818 1680421;1858110;2184331 RH12673;SHGC-63;WI-14619 DKFZp779K1237;MGC133043;P110BETA;PI3K;PI3KBETA;PIK3C1 OTTHUMP00000216901;OTTHUMP00000216904;PI3-kinase p110 subunit beta;PI3-kinase subunit beta;PI3K-beta;PtdIns-3-kinase p110;phosphatidylinositol 3-kinase, catalytic subunit, beta isoform;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta isoform;phosphoinositide-3-kinase, catalytic, beta polypeptide;ptdIns-3-kinase subunit beta;ptdIns-3-kinase subunit p110-beta APPROVED protein-coding 8976 04234 602925 VALIDATED 1315103 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma This gene encodes a protein that belongs to the pi3/pi4-kinase family of proteins. The gene product is an enzyme that phosphorylates phosphoinositides on the 3-hydroxyl group of the inositol ring. It is an important modulator of extracellular signals, including those elicited by E-cadherin-mediated cell-cell adhesion, which plays an important role in maintenance of the structural and functional integrity of epithelia. In addition to its role in promoting assembly of adherens junctions, the protein is thought to play a pivotal role in the regulation of cytotoxicity in NK cells. The gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. [provided by RefSeq, Jul 2008] 7 7 q22.3 106293160 106334828 + 106505924 106547592 + 1580863;1641794;1642432;1642429;1642433;1642394;6480464;6482697;6482683;6482688;6482689;6482694;6482696;6482686;6482708;6482687;6482682;6482684;6482678;6482702;6482700;6482698;6482699;6482677;6482681;6482695;6484113;6907045 17272402;17460301;17526805;17458647;17483449;16374167;20508212;20056919;20025958;20004201;18412166;20303183;21866628;20179753;21244371;20374644;21546487;14627686;21949398;16365454;15936620;22198681;21402770;18754810 20657188;20863633;21435395;7624799;11136978;19574958;19492417;19492075;19445727;19427038;19376889;19339247;19323811;19303157;19269083;19261616;19229860;19224914;19211763;19211028;19192227;19179443;19152965;19103290;19086053;19079138;19078992;19059380;19058789;19017490;19011679;18996102;18983267;18973553;18945831;18844239;18824170;18810319;18771702;18769058;18766172;18728784;18725974;18722093;18720410;18711316;18678286;18675921;18652687;18632611;18625725;18615538;18603327;18593948;18587247;18558630;18552129;18546844;18535744;18520805;18515365;18511807;18502332;18499442;18495460;18469852;18467332;18458059;18451140;18451027;18434090;18395956;18374639;18338817;18299320;18273051;18245521;18201823;18187452;18079201;18060476;18025271;17998459;17971428;17942603;17901375;17900864;17878755;17868340;17855501;17724079;17716861;17681345;17658464;17646933;17551921;17515959;17497700;17459875;17410437;17375124;17303701;17302605;17290298;17286201;17235455;17173040;17158252;17126402;17045571;17008323;17001038;16943418;16772787;16533525;16527821;16507111;16432180;16430866;16328013;16325767;16291747;16286246;16219695;16204373;16094730;15993382;15932879;15901830;15878979;15845472;15797027;15741161;15733066;15678501;15668028;15611065;15582274;15558024;15543611;15496972;15489334;15326564;15046613;15044087;15001544;14622970;14605879;14602571;14583609;13130092;12853948;12757856;12690205;12606772;12551992;12545160;12529294;12507995;12502714;12477932;12473596;12464013;12435806;12242282;12163475;12115604;12077252;11994280;11861293;11756422;11756194;11577104;11416136;11259422;11238738;11156964;11154208;10972292;10816567;10580505;10579793;10542052;10488142;10386953;10358071;10318860;9708406;9507010;9446795;9446654;9394803;8798481;8313897;7520444;16524887;9808187;15689238;17157319;12960231;16081599;9341793;9113989;12774123;9747873;7606002;10571082;15664519;19615795;20852838;20412587;20627085;19897009;20089844;20145951;20226014;20458733;20530239;20602615;20606682;20809254;20560677;20620179;20671123;20685403;20810749;10871282;18479604;19062713;19415692;19421146;19427341;19428048;19437103;19454653;19457236;19471547;19472218;19473116;19473971;19525225;19531027;19533041;19541408;19549714;19553005;19553815;19567200;19567590;19570915;19572978;19588500;19609946;19615732;19621391;19636556;19660434;19711039;19723646;19726747;19734303;19786618;19787273;19801192;19801633;19801684;19815050;19820697;19835871;19855431;19889638;19903888;19917135;19924283;19940129;19966853;20003467;20009532;20011604;20018188;20018937;20030877;20056178;20062086;20086095;20088406;20089415;20107185;20150971;20157617;20157769;20164468;20166697;20195717;20237496;20331378;20453000;20488790;20508983;20513426;20526338;9915850;20505158;20224967;20852826;20855526;20375364;20361045;20672329;20870746;18194602;20354121;20204404;20512574;20124452;20368287;20562859;20805333;20811632;20578837;20675006;20432929;20800603;20661648;20935218;21045158;20506537;21173233;22568210;21185806;21707707;21474070;20622047;21665146;21665152;21856935;23107319;23354687;19926313;18278175;19075988;19147653;19376709;21900206;21796621;21930962;21419339;21909108;21909110;22423221;22054284;22449554;20465946;7721825;23500535;22825625;22139419;22573891;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;20019835;20041213;20702582;20818790;21029719;21765914;22325219;8636073;9247029 5294 E9PDN7;P48736 AACC02000004;ABBA01057917;ABBA01057918;AC005018;AF327656;AK292684;AK313753;AMYH01017829;AY496423;BC035683;BX648341;CH236947;CH471070;NM_002649;X83368 AAG61115;AAH35683;AAQ96873;AAS75801;BAF85373;CAA58284;EAL24396;EAW83387;EAW83388;EAW83389;NP_002640;P48736 Hs.32942 1650720;1655190;1707818;2139080;2217748 G36360;PIK3CG_4032;SHGC-35564;SHGC-82136;STS-X83368 PI3CG;PI3K;PI3Kgamma;PIK3 1-phosphatidylinositol 3-kinase;OTTHUMP00000212313;OTTHUMP00000212314;OTTHUMP00000212315;PI3-kinase subunit gamma;PI3K-gamma;p110-gamma;p110gamma;p120-PI3K;phosphatidylinositol 3 kinase gamma, p110 gamma;phosphatidylinositol 3-kinase catalytic 110-kD gamma;phosphatidylinositol 3-kinase, catalytic, gamma polypeptide;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma isoform;phosphoinositide-3-kinase catalytic gamma polypeptide;phosphoinositide-3-kinase gamma catalytic subunit;phosphoinositide-3-kinase, catalytic, gamma polypeptide;ptdIns-3-kinase subunit gamma;ptdIns-3-kinase subunit p110-gamma;serine/threonine protein kinase PIK3CG APPROVED protein-coding ENSG00000105851 8978 03135 601232 REVIEWED 1352691 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. [provided by RefSeq, Jul 2008] 3 3 q26.3 180349005 180435194 + 178866311 178952500 + 1580863;2313763;2290458;2290476;4143515;5133243;5133242;5685670;5685669;6480464;6484113;6907045;7240710 18955974;17641274;16847462;19078924;21277552;20951313;17575153;20622004 22039088;22188534;22336586;22586484;22675430;22575839;22635024;22185283;22190283;22287190;22552288;22744290;21266528;2174051;10648629;12167717;12660731;19603024;19573809;19487299;19440000;19420344;19418217;19383818;19380724;19366826;19351817;19349352;19330652;19305151;19272638;19261849;19240718;19237633;19234438;19233141;19223544;19196980;19172191;19164214;19148475;19143676;19076977;19064572;19029981;19029838;19027487;19012001;19003996;18996102;18990689;18980969;18951408;18852163;18835245;18829572;18798071;18794883;18794094;18782444;18769113;18757405;18691552;18679714;18676830;18669866;18660489;18641990;18621636;18516290;18503601;18449193;18418043;18382359;18371219;18355852;18343945;18335034;18317450;18285463;18270270;18262558;18224685;18221484;18216097;18193083;18183466;18181165;18180098;18097548;18084252;18079394;18074223;18070887;18064631;18029348;18022911;18000091;17990317;17986027;17982280;17971428;17947469;17942548;17936563;17924977;17923698;17877460;17875942;17855350;17827385;17803655;17681398;17673550;17669465;17657213;17635910;17590872;17586693;17575221;17549376;17546593;17507466;17487277;17471559;17468516;17449641;17426084;17377809;17376864;17341442;17317825;17314276;17307335;17235514;17219054;17202311;17141917;17062663;17060456;17052259;17050665;17006756;16968743;16949921;16930767;16885334;16840732;16839745;16837650;16822308;16820791;16815198;16790501;16788758;16778113;16775835;16764926;16728507;16682946;16627990;16618717;16582596;16569657;16533766;16522324;16432179;16406609;16397024;16380997;16376301;16353168;16344560;16341083;16339315;16339173;16322209;16317585;16288007;16287065;16203798;16168105;16150444;16150119;16114017;16034135;15994075;15950905;15930273;15928251;15924253;15837735;15805248;15784156;15712344;15647370;15632060;15605984;15520168;15489334;15467468;15289301;15254419;15016963;14729945;14602571;12704201;12477932;12077252;11994280;11959846;11912194;11676480;11334418;11278864;11156964;11154208;10921882;10490823;10358930;10213474;9916799;9708406;9446795;9415396;9394803;9150145;9113989;9043658;8798481;8702949;8665852;8020561;7929193;7820549;7713498;1322797;16524887;17157319;9808187;15689238;12960231;12551992;16081599;9341793;10985305;12584329;12526811;11289809;17369495;17363507;10208934;9247029;8636073;14583609;8246987;10357815;11969417;16354680;14724584;10783161;11577104;12754211;12893243;12954600;12890670;15213298;10608806;11606067;15834429;15664519;20629536;21169263;19913121;20569675;20571907;20602615;20628086;20652941;20736745;20813562;20416519;20551053;20619739;17332342;21185392;21406404;21419810;10620012;10803462;11279232;11353842;12538664;15940673;16043515;17222361;17237249;19276248;19394761;19440799;19443396;19584164;19608668;19633047;19638206;19654299;19671852;19679877;19685490;19686742;19704056;19706770;19735264;19789314;19789368;19805105;19815551;19818761;19822807;19826477;19839777;19844234;19844788;19853286;19861897;19891769;19898424;19903786;19903845;20008098;20022634;20028853;20056178;20098682;20101210;20103642;20107891;20130133;20177704;20186503;20237496;20308328;20308428;20331378;20398348;20407443;20413299;20416077;20447721;20453000;20479250;20493625;20508983;20526288;21225506;19411071;20495538;20691427;20813970;20824703;20860430;20881644;20937558;20940279;21035469;21048031;21051183;21072204;20857497;10949031;19701705;20167866;20713702;19845664;20514448;20379197;20557351;20616362;21123564;20699365;20953381;20954287;20535651;20593314;20718712;20959404;21042767;21062993;19622295;21303542;21367892;20827662;21412012;21474066;21499215;21788516;20703095;21071597;21113138;21113787;21255011;21290341;21332555;21355052;21480388;20629539;21191416;21228233;21103049;20491626;20034918;21179398;21345071;21168197;21300060;21377268;20826237;21093899;21127054;21252315;22315990;22330809;22705003;22705004;22897902;22905202;22982396;23066026;23107319;22522847;22556379;22662165;22723903;22737248;22875023;22923510;22949682;22779686;22936809;10571082;11438544;23028762;23066039;23115297;22863784;23092874;23136191;23386617;21209852;21209903;21408138;21310649;21424126;21407159;21468554;20838624;19549383;20030946;21357506;21469098;21482133;21531001;21595858;21620963;21768115;21829508;21454528;21507233;21708979;21442372;21501368;21594665;21682666;21822287;21358673;21490305;21663621;22998445;22840496;22928013;22940133;11029009;23100325;22851869;22880054;21258250;21372221;21482677;21646525;18624398;21092549;21711108;21945955;22214007;21676217;21735444;21557211;21558396;21620836;21660567;19147653;19200708;21440011;21538027;21673026;21861134;21622527;21906875;21893189;22064833;22107784;22146375;21824802;21887250;21990951;22033276;22095222;22006429;22037177;22258409;22430133;22798500;22842715;22994622;23051731;23185308;23341541;23401445;23453624;21139048;21531708;21899695;21994334;22072736;21937609;21949775;21991326;22988297;20368287;21706016;22623730;23110163;22997091;23184205;23546602;23643389;23660947;20301425;21667306;21713404;21769475;21789382;21830111;21970855;22135231;22188813;22212451;22301279;22355357;22363436;22363598;22471665;21725367;21872252;19874421;21997360;22020193;22105580;22120431;22146979;22208359;22227580;22271473;22285928;22302350;15377662;15707590;22157930;14511371;19069650;21617917;21932420;22026810;22045127;22285706;22351695;22357840;22383975;22658544;23233531;23275335;23335533;22209294;22897848;16135792;19807924;22619175;22675553;22683270;22729222;22729223;22729224;9915850;11157475;12637493;12933652;20018188;9119889;22955107;16806069;22994717;23604317;23136247;23219661;23224067;23243017;22340730;22430209;22463491;23071680;23082158;23261389;22640628;23266353;23300780;23383294;23612454;23523798;23564819;22648906;22912864;23192871;23246288;22949056;22172323;22522453;22689060;23172887;23435830;22704443;17632570;18453587;18854243;19380743;20019835;20041213;20702582;20818790;21029719;21765914;22325221;22417847;22495819;22498935;22556157;22579930;22649008;22768164;22768179;22807617;22938585;22336203;22460814;23094721;22736407;22870241;22931052;23021375;23013731 5290 C9J951;C9JAM9;P42336 AB210020;ABBA01058543;ABBA01058544;ABBA01058545;ABBA01058546;AC076966;AK292940;AK297203;AK302608;AMYH01013686;AU129890;AW445128;BC113601;BC113603;BQ228953;BX437219;BX473473;BX484734;CH471052;DQ910907;GM752103;GM865566;HM437241;NG_012113;NM_006218;U79143;Z29090 AAB39753;AAI13602;AAI13604;ABI95433;ADN43072;BAE06102;BAF85629;BAG59688;BAG63856;CAA82333;CAT16714;CAV28702;EAW78423;NP_006209;P42336 Hs.553498;Hs.715194 1745267;1852798;2145523;2217746;5117695 GDB:596369;GDB:596374;PIK3CA_4031;RH70978;SHGC-12912 CLOVE;CWS5;MCAP;MCM;MCMTC;MGC142161;MGC142163;PI3K;p110-alpha OTTHUMP00000211945;PI3-kinase p110 subunit alpha;PI3-kinase subunit alpha;PI3K-alpha;PI3Kalpha;PtdIns-3-kinase p110;p110alpha;phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha;phosphatidylinositol 3-kinase, catalytic, alpha polypeptide;phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha;phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform;phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit, alpha isoform;phosphoinositide-3-kinase catalytic alpha polypeptide;phosphoinositide-3-kinase, catalytic, alpha polypeptide;ptdIns-3-kinase subunit alpha;ptdIns-3-kinase subunit p110-alpha;serine/threonine protein kinase PIK3CA APPROVED protein-coding 8975 01382 114480;114500;114550;137215;162900;167000;171834;182000;211980;602501;603387;612918;613659;615108 REVIEWED 1605305 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 22 22 22 q12.2 15478064 15489008 - 30007579 30018474 - 31677579 31688520 - 6480464 18632611;17475214;16303743;15489334;15461802;15340161;14702039;12529303;12477932;10591208;8889548;19088825;22706993 113791 C9JMK5;D1MEI0;Q96FE7 ABBA01055327;AC002073;AF528079;AF528080;AK074688;AK093768;AK226089;AK299397;AK300990;AMYH01012714;AW005175;BC011049;BC041903;BE299406;BQ718653;BU681979;CH471095;CR456340;DC412134;GU135609;NM_001135911;NM_052880 AAB54054;AAH11049;AAH41903;AAO33762;AAO33763;ACZ26468;BAC11140;BAG61381;BAG62609;CAG30226;EAW59960;EAW59961;EAW59962;EAW59963;EAW59964;NP_001129383;NP_443112;Q96FE7 Hs.26670 1712300;2108257;2125160;2125575;2133619;2165312;2165314;2165793;5015619 A006I21;A008O47;D11S3114;G20845;G54059;HSC29H062;MGC17330__7680;RH47917;WI-14622 HGFL;MGC17330;hHGFL(S) OTTHUMP00000199499;OTTHUMP00000199500;OTTHUMP00000199501;kringle domain-containing protein HGFL;phosphoinositide-3-kinase-interacting protein 1 protein-coding ENSG00000100100 24942 17518 VALIDATED 1346928 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011] 17 17 17 p13.1 8814067 8900857 - 8724138 8756559 - 8782233 8869029 - 737633;1580863;6480464;6484113;6907045 12477932 10488142;10358071;19453261;17486067;15797027;15611065;15489334;12507995;20056178;20379614;7624799;18794883;20582532;21832049;18624398;21890473;22065524;22318606 23533 J3KRE9;J3KSW1;J3KT66;L7RT34;Q8WYR1 AB028925;ABBA01054931;ABBA01054932;ABBA01054933;AC002091;AC003695;AF128881;AK129627;AK309074;AK314186;AMYH01008093;AMYH01008094;AY725851;AY725852;AY725853;AY725854;BC028212;CH471108;EU332864;NG_030374;NM_001142633;NM_001251851;NM_001251852;NM_001251853;NM_001251855;NM_014308 AAD33397;AAH28212;AAW63121;AAW63122;AAW63123;AAW63124;ABY87553;BAB82464;EAW90035;EAW90036;EAW90037;NP_001136105;NP_001238780;NP_001238781;NP_001238782;NP_001238784;NP_055123;Q8WYR1 Hs.278901;Hs.738684 1339147;1339427;1757249;2109613;2131143;2138246;2147417;2170268;7187846 AFMB322YG5;D17S1858;D17S755;D17S786;P101-PI3K__7041;RH16346;SGC34915;SHGC-144670 F730038I15Rik;FLJ26116;FOAP-2;P101-PI3K;p101 OTTHUMP00000135339;PI3-kinase p101 subunit;PI3-kinase regulatory subunit 5;phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit;phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit;phosphoinositide 3-kinase regulatory subunit 5;phosphoinositide-3-kinase, regulatory subunit 5, p101;phosphoinositide-3-kinase, regulatory subunit, polypeptide p101;protein FOAP-2;ptdIns-3-kinase p101;ptdIns-3-kinase regulatory subunit APPROVED protein-coding ENSG00000141506 30035 11433 611317;615217 REVIEWED 1353925 PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 1 1 p34.1 46278399 46370901 - 46505812 46598708 - 1580863;2290458;6480464;6484113;6907045 17641274 9524259;8647200;18029348;17452746;17360667;14702039;12588990;12477932;10417350;9415396;9178903;8619474;7542745;16189514;12470648;11172806;15001646;20197460;20379614;10949031;16273093;19060904;21706016;21988832;23135998;16751776;18624398;21900206;19380743;22722333;22876838 8503 E7EMU8;F6TDL0;Q5T4P3;Q8N381;Q92569 ABBA01050845;ABBA01050846;ABBA01050847;AF028785;AK123886;AK302049;AK304713;AK313726;AL358075;AMYH01000581;AMYH01000582;BC005381;BC021622;BC094768;BX507484;BX537388;CH471059;CR749649;D88532;NM_001114172;NM_003629;U90907;Y13809 AAC39696;AAH05381;AAH21622;ABM82715;ABM85897;ACE86933;ACE87620;BAA13636;BAG36468;BAG63440;BAG65477;CAB52195;CAD97630;CAH18443;EAX06943;EAX06944;EAX06945;EAX06946;EAX06947;NP_001107644;NP_003620;Q92569 Hs.655387 1654701;1688771;1716931;1846690;1847844;2153339;2164836;5092808 A006G09;A008Z33;AL009584;G32343;RH121843;RH16484;RH93118;SHGC-74772 DKFZp686P05226;FLJ41892;p55;p55-GAMMA 100% homology to SWISS-PROT Q92569;OTTHUMP00000009783;OTTHUMP00000009784;OTTHUMP00000009786;PI3-kinase regulatory subunit gamma;PI3-kinase subunit p55-gamma;PI3K regulatory subunit gamma;p55PIK;phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma;phosphatidylinositol 3-kinase regulatory subunit gamma;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 3 (p55, gamma);phosphoinositide-3-kinase, regulatory subunit 3 (p55, gamma);phosphoinositide-3-kinase, regulatory subunit, polypeptide 3 (p55, gamma);ptdIns-3-kinase regulatory subunit gamma;ptdIns-3-kinase regulatory subunit p55-gamma protein-coding ENSG00000117461 8981 05831 606076 VALIDATED 68478 PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012] 19 19 q13.2-q13.4 18125016 18142343 + 18264016 18281343 + 1580863;2290458;6480464;6484113;6907045 17641274 12029088;12660731;18660489;18534979;18420583;17881440;15951569;15826941;15592455;15536084;15489334;15324660;15117958;15057824;14602571;12477932;12077252;12052866;11994280;11172806;11160222;11156964;11154208;11120660;10594015;10459020;10022833;9708406;9651378;9582025;9446795;9435577;9394803;9228082;9178760;9113989;9092574;8798481;8662998;8080844;7982920;7629144;7592789;7559478;7541045;7537096;7509360;2174051;1334406;1314371;16524887;10422873;10358157;9123823;9808187;15689238;17157319;12960231;12551992;16081599;9341793;11350939;11133830;9178903;16729043;12470648;20598684;20653952;20936779;11353842;12167717;12730242;17024187;19286672;19336760;19635806;19747165;19846673;19915146;10949031;15107835;20515662;19380743;21139197;23383273;21383062;21249429;21832049;10627473;19531499;15020686;22102226;17620599;21139048;22733740;19190244;21145461;21984976;22729224;16273093;16964398;18067320;19738201;21706016;21988832;22623428;23604317;22867989;10208934;10985305;11289809;12526811;12584329;17632570;18453587;18854243;20019835;20702582;20818790;21765914;8636073;9247029;23221569 5296 E9PFP1;M0QYU3;O00459 ABBA01051248;ABBA01051249;AC007192;AMYH01009585;AMYH01009586;BC011917;BC014170;BC032647;BC070082;BC090249;CH471106;HY043384;NG_033010;NM_005027;NR_073517;X80907 AAD22671;AAH11917;AAH14170;AAH32647;AAH70082;AAH90249;CAA56868;EAW84659;EAW84660;NP_005018;O00459 Hs.371344 1678749;5491844 PIK3R2;RH26302 MPPH;P85B;p85;p85-BETA OTTHUMP00000198081;OTTHUMP00000198082;PI3-kinase regulatory subunit beta;PI3-kinase subunit p85-beta;PI3K regulatory subunit beta;phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta;phosphatidylinositol 3-kinase regulatory subunit beta;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta);phosphoinositide-3-kinase, regulatory subunit 2 (p85 beta);phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta);ptdIns-3-kinase regulatory subunit beta;ptdIns-3-kinase regulatory subunit p85-beta protein-coding ENSG00000105647 8980 04404 603157;603387 REVIEWED 1353016 PIK3R6 phosphoinositide-3-kinase, regulatory subunit 6 Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 8736925 8802828 - 8646780 8711719 - 8706055 8770994 - 6480464;6484113 18596232;18323525;16476736;16344560;22728827;21996737;15797027;14702039;12477932;12507995;7624799 146850 Q5UE93 ABBA01054925;ABBA01054926;ABBA01054927;ABBA01054928;ABBA01054929;ABBA01054930;ABBA01054931;AC003695;AC009451;AK091819;AL833037;AMYH01008091;AMYH01008092;AMYH01008093;AY753192;BC110301;BC125169;CH471108;DA585264;NG_033091;NM_001010855 AAI25170;AAI66645;AAV30085;BAG52421;CAH56340;EAW90038;EAW90039;EAW90040;EAW90041;NP_001010855;Q5UE93 Hs.255809 C17orf38;DKFZp666P158;FLJ34500;HsT41028;p84;p84 PIKAP;p87(PIKAP);p87PIKAP PI3Kgamma adapter protein of 87 kDa;chromosome 17 open reading frame 38;p84 PI3K adapter protein;p87 PI3K adapter protein;p87 phosphoinositide 3-kinase gamma (PI3Kg) adapter protein;phosphoinositide 3-kinase gamma adapter protein of 87 kDa;phosphoinositide 3-kinase regulatory subunit 6 APPROVED protein-coding 27101 12682 611462 REVIEWED 731958 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 5 5 q13.1 67558218 67633405 + 67511584 67597649 + 1625212;1625220;1625262;1625218;737788;1625215;1625216;737789;1625211;1299201;2301729;2290476;1642762;2299174;2290458;4108483;4108492;4108481;4108490;4108507;2307338;4108502;2317988;6480464;6484113;6907045 16332940;16123202;10426374;9399964;9988280;12185156;11826414;11850627;17283057;12891559;18336616;16847462;14685170;18175071;17641274;19015400;18300869;19100383;18443201;17167084;18430054;17699716;16829981 10572067;8440175;7537849;8276809;7541045;14699157;7782332;8052599;18029348;9356464;10648629;11606067;12167717;12660731;19482007;19454690;19351817;19336760;19218574;18996102;18990689;18974049;18660489;18534979;18418043;18372911;18335044;18328427;18249389;18245521;18227218;18079394;17890432;17827393;17570359;17486587;17442886;17404186;17302605;17242406;17242350;17214991;17038539;17016694;17013094;17006756;16921024;16844778;16787925;16644730;16491394;16412560;16377635;16306077;16289966;16230374;16228294;16168140;15951569;15932879;15910625;15872086;15826941;15809724;15741161;15629149;15536084;15490304;15489334;15388330;15351743;15324660;15192701;15127203;15117958;15016818;15007072;14769856;14729945;14702039;14602571;14597629;14551916;12933816;12878163;12774123;12714585;12668683;12644569;12637493;12588990;12582030;12538575;12529960;12477932;12454018;12397383;12393736;12359715;12220227;12210743;12186904;12173038;12112020;12107746;12086876;9852124;9801792;9774657;9774384;9708406;9687533;9632636;9610355;9564850;9489702;9461588;9461587;9446795;9446654;9435577;9394803;9381982;9360994;9312149;9178903;9178760;9139718;9113989;9079809;9032108;8962058;8961927;8947469;8918688;8918464;8916957;8798481;8766817;8702949;8702385;8697095;8670861;8662998;8649427;8648629;8647200;8631888;8628286;8621719;8621607;8599763;8394019;8385099;8384556;8313897;8253717;8246987;8139559;8125298;8034624;7807015;7759531;7737969;7737275;7681364;7662955;7642542;7629060;7592789;7559499;7537362;7537275;7537265;7528218;7522165;7513258;7509796;7504174;1849461;1648445;1383690;1381348;1372092;1351056;1336372;1314371;2174051;16524887;15689238;9892650;12052866;12029088;12009866;11994280;11986952;11940581;11912194;11865050;11855827;12077252;11850823;11842213;11812000;11741599;11739737;11716761;11711534;11689561;11689445;11604231;11567151;11546794;11526404;11375989;11341978;11337495;11313349;11278378;11163197;11156964;11154208;11136977;11133830;11094073;11087752;11071869;11029009;10995743;10970851;10967104;10921882;10899172;10806474;10799562;10797305;10768093;10723796;10697503;10652352;10627473;10542297;10527852;10521483;10477752;10467411;10459020;10455176;10437794;10383151;10377409;10373529;10358930;10358777;10339567;10212255;10187839;10097090;10086340;10068651;10022833;9918857;7657594;7876130;7689724;8388538;12470648;8603569;17157319;12960231;12551992;16081599;10422873;10358157;9123823;9808187;9341793;15638726;14965316;12734410;11689886;18374639;9891995;9658397;8596638;9223670;8084603;10022120;9614102;12594831;11287610;10426994;11782427;11334882;12074588;10579793;8294442;11071635;12730242;9150145;9268059;9162069;7982920;16717100;11431473;11368773;9334184;8910607;8805332;10487518;11160222;7537361;7929193;12704201;15735664;8810341;7689147;20714879;22752602;22939629;22120714;16344560;19913121;20602615;20628086;10871282;11445578;12538664;14968112;16043515;16219545;16638574;16843263;16917505;17474147;17626883;18711014;19286672;19304514;19578796;19634059;19635806;19639178;19640849;19747165;19807924;19885597;19962665;20056178;20212113;20237496;20379614;20407443;7642581;9234717;21362552;17207965;20713702;20530665;20936779;20800603;15107835;20846792;21057544;21077741;21113646;21241768;11994282;15644415;22974441;22728334;16007092;21478295;21430300;21533174;20086096;20501401;21203488;15502848;18387942;19903888;8175658;21487925;21743495;22064833;15488758;15377662;15476827;17437541;22271581;22318606;22745667;18624398;19531499;20457601;21139048;22027828;22558309;22355357;10025673;10962563;11030146;11042121;11418612;11944898;14511371;16982329;17452978;19861161;21701776;7791764;8702998;8896416;8941725;9130710;9414268;9756944;9886492;9890943;10620516;12783867;16135792;17237826;17632516;19190244;21145461;21984976;22684007;8612729;9092538;9174058;9259313;9988765;11157475;15514089;15556646;16354680;19561084;20018188;8695807;8995243;9233773;23562842;12621049;16273093;16964398;20598684;21706016;21988832;23166678;23275563;18606683;19903481;23419831;23604317;23569237;10208934;10358153;10918571;10985305;11289809;12526811;12584329;14530346;17632570;18453587;18854243;19380743;20019835;20702582;20818790;21029719;21765914;8636073;9247029;9361008;9541596;9804835;23221569 5295 E5RGI8;E5RHI0;E5RJY0;E5RK66;H0YB27;H0YBC2;Q8N1C5 ABBA01048296;AC016564;AC104120;AF279367;AI124626;AI334281;AK000121;AK094785;AK126345;AK223613;AK294919;AK299743;AMYH01015140;AMYH01015141;AW630519;BC030815;BC094795;BE888150;BQ723333;CA427864;CB216668;CH471137;CT003423;DA487709;JX133164;JX133165;M61906;NG_012849;NM_001242466;NM_181504;NM_181523;NM_181524;U49349 AAB04140;AAH30815;AAH94795;AAO15359;ADQ32177;AFP86291;AFP86292;BAD97333;BAG52931;BAG54309;BAH11924;BAH13115;EAW51311;EAW51312;EAW51313;NP_001229395;NP_852556;NP_852664;NP_852665;P27986 Hs.132225;Hs.604502;Hs.734132 1650083;1653281;1676746;1683046;1684226;1718333;1745681;1785284;1793814;1793816;1858122;2108369;2114630;2114804;2127619;2183409;2185151;5024551 A003N10;GDB:631841;PIK3R1_8543;PMC291832P1;PMC291832P2;RH123681;RH17716;RH36897;RH44517;RH45585;RH75365;RH94245;SGC31850;SHGC-107225;SHGC-36907;SHGC-36976;WI-12591;WI-16112 AGM7;GRB1;p85;p85-ALPHA OTTHUMP00000161918;OTTHUMP00000161919;OTTHUMP00000161920;OTTHUMP00000226152;OTTHUMP00000226159;PI3-kinase regulatory subunit alpha;PI3-kinase subunit p85-alpha;PI3K regulatory subunit alpha;phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha;phosphatidylinositol 3-kinase regulatory subunit alpha;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1;phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha);phosphatidylinositol 3-kinase, regulatory, 1;phosphatidylinositol 3-kinase-associated p-85 alpha;phosphoinositide-3-kinase regulatory subunit;ptdIns-3-kinase regulatory subunit alpha;ptdIns-3-kinase regulatory subunit p85-alpha APPROVED protein-coding ENSG00000145675 8979 01381 171833;615214 REVIEWED 1323457 PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 3 3 3 q22.1 128823051 128890972 - 131880468 131948386 - 130397778 130465696 - 1580863;4889529;6480464;6907045 20034776 20643123;8999962;14751759;18957027;15489334;15342556;15324660;12686597;12477932;12388762;20562859;12660731;19270696;12925680;14617358;21139048;21890473;21906983;22505724 30849 D6RAC3;D6RBB7;D6RJ98;Q99570 ABBA01059200;AC097105;AC128683;AK314219;AMYH01013491;BC009899;BC017332;BC057239;BC069191;BC110318;BC127105;BC127106;BP359657;CH471052;FB775516;NM_014602;Y08991 AAI10319;AAI27106;AAI27107;BAG36893;CAA70176;CAV30715;EAW79222;NP_055417;Q99570 Hs.149032 1684900 RH80268 MGC102700;VPS15;p150 OTTHUMP00000216091;PI3-kinase p150 subunit;PI3-kinase regulatory subunit 4;phosphatidylinositol 3-kinase-associated p150;phosphoinositide 3-kinase adaptor protein;phosphoinositide 3-kinase regulatory subunit 4;phosphoinositide-3-kinase, regulatory subunit 4, p150 protein-coding ENSG00000196455 8982 04010 602610 VALIDATED 1313818 PIKFYVE phosphoinositide kinase, FYVE finger containing Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] 2 2 q34 208839236 208931720 + 209130991 209223475 + 6480464;6907045;7240710 15046600;17909029;14551253;16954148;16448788;19232516;18950639;19056739;18501703;17570343;17146146;17081983;15902656;15592455;15542851;15144186;14702039;14530284;12607114;12477932;12270933;11706043;10231032;16801682;18429927;18774718;23154468;11714711;17556371;18304842;19037259;19582903;19840946;19841139;19852935;19910676;20041238;20193073;20379614;17207965;20945365;21832049;16147992;22065932;22118674;20467438;23297396;22621786 200576 C9JL08;E9PDH4;F8WEZ0;Q9Y2I7 AB023198;ABBA01062708;ABBA01062709;ABBA01062710;ABBA01062711;AC012362;AC016697;AK091482;AK127769;AL122124;AMYH01011452;AY457063;BC017736;BC032389;BC035705;BC125052;BC125053;BG287802;BX640810;CH471063;NG_021188;NM_001178000;NM_015040;NM_152671 AAH32389;AAI25053;AAI25054;AAI56452;AAI72527;AAR19397;AAX93222;AAY14870;ADQ31819;BAA76825;BAC03674;BAC87123;EAW70444;EAW70445;EAW70446;EAW70447;EAW70448;EAW70449;NP_001171471;NP_055855;NP_689884;Q9Y2I7 Hs.744997 1298231;1340465;1713545;1719537;1744087;2122359;2141551;2142324;7186284 A005D48;D2S1317;D2S2289;D2S325;GDB:386618;RH120259;RH123501;RH16641 CFD;FAB1;FLJ37746;KIAA0981;MGC40423;PIP5K;PIP5K3;ZFYVE29 1-phosphatidylinositol 3-phosphate 5-kinase;1-phosphatidylinositol-3-phosphate 5-kinase;OTTHUMP00000163872;OTTHUMP00000198099;OTTHUMP00000198101;OTTHUMP00000198102;PIPkin-III;phosphatidylinositol 3-phosphate 5-kinase;phosphatidylinositol 3-phosphate 5-kinase type III;phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III;type III PIP kinase;zinc finger, FYVE domain containing 29 APPROVED protein-coding ENSG00000115020 23785 17852 121850;609414 REVIEWED 1347401 PIN1L2 protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1-like 2 5109 8990 1354255 PIN1P1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 1 1 1 p31 68674976 68675971 + 70157593 70158796 + 70385005 70386000 + 6480464 16710414;9299231 5301 O15428 ABBA01074491;AK314840;AL391728;AMYH01000699;NR_023916;U82382 AAB81333;BAG37358 Hs.654711 1700942;2109653 PIN1L__6997;RH104098 PIN1L protein (peptidyl-prolyl cis/trans isomerase) nima-interacting 1-like APPROVED pseudo 8989 03630 602051 VALIDATED 1348368 PIN3 protein, NIMA-interacting 3 8606777 5302 8991 1344275 PIM3 pim-3 oncogene The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012] 22 22 q13 48740165 48743724 + 50354143 50357720 + 737633;1580863;6480464 12477932 19266083;19154409;18593906;16403219;15540201;15489334;15199164;12798037;10713710;17270021;20101231;20939820;21187426;21297633;19624871;21646687;21870113;21668797;21906983;23209281;22053931 415116 Q6P2J9;Q86V86 AB114795;ABBA01031317;ABBA01031318;AK292005;AMYH01012890;BC017083;BC052239;BC064477;BC141855;BX539320;CH471138;CR536608;CT000425;DB482257;NM_001001852 AAH64477;AAI40031;AAI41856;BAD42438;BAF84694;EAW73485;NP_001001852;Q86V86 Hs.530381 1773745;2124560 RH78485;WI-11798 pim-3 OTTHUMP00000196970;serine/threonine kinase Pim-3;serine/threonine-protein kinase pim-3 APPROVED protein-coding ENSG00000198355 19310 15137 610580 VALIDATED 1318381 PILRA paired immunoglobin-like type 2 receptor alpha Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 94700868 94727521 + 99809004 99835658 + 99971068 99997722 + 6480464 10660620;18358807;10903717;19457990;19244335;18097101;15489334;15085135;12690205;12477932;22695228;21241660;22396535;21988832;23302878 29992 C9JGG1;C9JJ79;Q9UKJ1 AACC02000084;ABBA01013217;ABBA01013218;AC005071;AF161080;AJ400841;AJ400842;AJ400843;AK298731;AMYH01017733;BC017812;BF432841;CH236956;CH471091;NG_029837;NM_013439;NM_178272;NM_178273 AAD52964;AAH17812;BAG60881;CAC01613;CAC01614;CAC01615;EAL23835;EAL23836;EAL23837;EAW76542;EAW76543;EAW76544;EAW76545;NP_038467;NP_840056;NP_840057;Q9UKJ1 Hs.444407 1681408;2109651;2135274;2159394 G31544;PILRA_9623;RH36143;RH93969 FDF03 OTTHUMP00000207541;OTTHUMP00000207542;OTTHUMP00000207543;OTTHUMP00000207544;cell surface receptor FDF03;inhibitory receptor PILR-alpha;inhibitory receptor PILRalpha;paired immunoglobin-like receptor alpha;paired immunoglobulin-like receptor alpha;paired immunoglobulin-like type 2 receptor alpha APPROVED protein-coding ENSG00000085514 20396 05631 605341 REVIEWED 6770277 PIN4P1 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 pseudogene 1 15 q15.3 44168004 44170369 - 14702039;11181995 728758 ABBA01039220;AC023356;AK055299;AMYH01006607;CH471082;NR_003571 EAW77256 Hs.658099 1815040;1819036;1824604;1825236;1825316;1934346;1934348;1934350;1934352;1934354;1934356;1934358;1934360;1934362;1934364;1934366;1934368;1934370;1934372;1934374;1934376;1934378;1934380;1934382;1934384;2209178;2209180;2209182;2209184 ECD08552;ECD10584;ECD13400;ECD13719;ECD13764;REN38006;REN38007;REN38008;REN38009;REN38010;REN38011;REN38012;REN38013;REN38014;REN38015;REN38016;REN38017;REN38018;REN38019;REN38020;REN38021;REN38022;REN38023;REN38024;REN38025;stSG628011;stSG628012;stSG628013;stSG628014 pseudo 44193 PROVISIONAL 6769652 PINK1-AS PINK1 antisense RNA p36.12 17362513 100861548 AL391357 NAPINK1;PINK1-AS1;PINK1AS APPROVED miscrna 38872 1603396 PILRB paired immunoglobin-like type 2 receptor beta The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013] 7 7 7 q22.1 94685426 94695252 + 99771673 99803388 + 99933688 99965454 + 6480464 10660620;16926269;15498874;15489334;14702039;12477932;11181995;10903717;14667819;15381729;10327049;11812650;9632768;16344560;17207965;22990118;23251661 29990 C9J8P3;C9JGQ4;C9JNA4;C9JPU0;C9JTD2;Q9UKJ0 AACC02000084;ABBA01013218;ABBA01013219;AC005071;AF161081;AJ400845;AMYH01017733;BC050547;CH236956;CH471091;CS538134;NM_178238 AAD52965;AAH50547;ADQ33053;CAC19193;CAM84960;EAW76551;NP_839956;Q9UKJ0 Hs.632314 2118341;2218062 STAG3_3530;STS-W69468 FDFACT1;FDFACT2 OTTHUMP00000207806;OTTHUMP00000207866;OTTHUMP00000207942;OTTHUMP00000207943;OTTHUMP00000210926;activating receptor PILR-beta;activating receptor PILRbeta;cell surface receptor FDFACT;cell surface receptor FDFACT1;cell surface receptor FDFACT2;paired immunoglobin-like receptor beta;paired immunoglobulin-like receptor beta;paired immunoglobulin-like type 2 receptor beta APPROVED protein-coding 18297 605342 REVIEWED 1347613 PIM2 pim-2 oncogene This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009] X X p11.23 48655403 48661228 - 48770459 48776413 - 1580863;6480464;6907045 22506047;23209281;9804974;18675992;18593906;18424697;18216297;18029348;16403219;16015593;15721354;15548703;15489334;15291354;15199164;12954615;12477932;16169070;16189514;20592892;20939820;20098747;19821157;20465571;11854514;16548883;16713569;19841674;21299464;21859846;21475253;20596523;21900206;21906983 11040 C9J8V9;Q9P1W9 AB042425;ABBA01046081;AC233300;AF207550;AK290931;AK312745;AMYH01022290;BC018111;CH471224;CQ834174;CQ834176;DC378253;HI179046;NG_016262;NM_006875;U77735 AAC78506;AAH18111;ABM82262;ABM85444;BAA95613;BAF83620;CAH05302;CAH05303;CBX53832;EAW50729;EAW50730;NP_006866;Q9P1W9 Hs.727148 1648967;1660281;1796512 PIM2_378;RH78860;STS-H88980 OTTHUMP00000025825;pim-2h;proto-oncogene Pim-2 (serine threonine kinase);serine/threonine protein kinase pim-2;serine/threonine-protein kinase pim-2 APPROVED protein-coding ENSG00000102096 8987 02244 300295 REVIEWED 6771275 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing 19 q13.31 44080952 44086256 + 6480464 12477932 390940 A6NC86 ABBA01040863;AC006276;AI298189;AK129550;AK296854;AMYH01009840;BC071811;DW009999;L34079;NM_001193621;NM_001193622 A6NC86;AAC99796;BAH12443;NP_001180550;NP_001180551 Hs.22049 1649297;1729283;1729345 G23948;G64133;G64200 phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein;uncharacterized protein ENSP00000244321 protein-coding ENSG00000234465 44206 VALIDATED 1345088 PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009] X X q13 71318251 71334666 + 71401526 71483814 + 1580863;6480464 10100858;10364457;17875217;16522211;15489334;12860119;12477932;12144781;11960984;11337467;11162102;10966801;16169070;20029029;19369196;22939629;21139048 5303 D6RFY5;H0Y4T6;H0Y610;H0Y8P6;J3KMW3;Q6IRW4 AB009690;ABBA01046195;ABBA01046196;ABBA01046197;ABBA01046198;ABBA01046199;ABBA01046200;ABBA01046201;ABBA01046202;ABBA01046203;ABBA01046204;ABBA01046205;ABBA01046206;ABBA01046207;ABBA01046208;ABBA01046209;ABBA01046210;AF143096;AK127605;AL135749;AMYH01022553;AU098526;AV709926;BC005234;BC070288;BC093700;BC104653;BC111394;BC112281;BE504461;BU952002;BX119917;CH471213;NG_016328;NM_001170747;NM_006223;NR_033187 AAD27893;AAH05234;AAH70288;AAH93700;AAI04654;AAI11395;AAI12282;ADR83479;BAA82320;BAG54532;EAW71812;NP_001164218;NP_006214;Q9Y237 Hs.655623 1647380;1664760;1677180;1679792;1681833;1721135;1773229;1796514;1856829;1934350;2178421;5037552 AF020151;AF020179;D8S2279;DXS6732;DXS7706;G59402;PIN4_1037;REN38008;RH80498;RH93163;RH98807;SGC38245 EPVH;MGC138486;PAR14;PAR17 OTTHUMP00000023526;OTTHUMP00000023527;OTTHUMP00000217483;OTTHUMP00000217485;PPIase PIN4;eukaryotic parvulin homolog;hEPVH;hPar14;hPar17;parvulin-14;parvulin-17;peptidyl-prolyl cis-trans isomerase NIMA-interacting 4;peptidyl-prolyl cis-trans isomerase Pin4;peptidyl-prolyl cis/trans isomerase EPVH;protein (peptidyl-prolyl cis/trans isomerase) nima-interacting, 4 (parvulin);rotamase PIN4 APPROVED protein-coding ENSG00000102309 8992 02219 300252 REVIEWED 737516 PIM1 pim-1 oncogene The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011] 6 6 p21.2 37245964 37251182 + 37137922 37143204 + 1580863;6480464;6484113;6907045 1825810;16186805;18056989;2682662;19573080;19345670;19336552;19266083;19152965;18775810;18768389;18708761;18695914;18676680;18519946;18467333;18426800;18216297;18037896;17855660;17643117;17560648;17487358;17476282;17448597;17327400;17313559;16712793;16684349;16647097;16508102;16403219;16356754;16344560;16266891;16227208;16221667;15808862;15798097;15721354;15657054;15528381;15525646;15489334;15471855;15319445;15264249;14981536;13679438;12680209;12477932;12431783;12411508;12111331;12036885;11823475;11591366;18596907;18593906;11518967;11460166;11368509;11279102;11237709;10931201;10664448;10373478;9809063;3475233;3429489;3329709;2837645;2205533;1427894;16169070;22700982;22689995;23209281;20215828;21474815;18426646;19003546;19170196;19568408;19625176;19688129;19692168;19734423;19773279;19878356;19911008;20032391;20075333;20191609;20203306;20237496;20939820;21143989;20811681;20958956;20639905;20663873;20544717;20587610;20633028;21734463;21832049;22574367;21187157;21062737;21382889;21262926;21859846;21680901;21910584;21974958;17297438;20460432;21139048;21890473;21906983;21993851;21963094;23131564;22193779;21743487;21860423;22261337;22441844;22451912;19166854;19322201;22584579;22619278;22273698;22720752;23119061;22840454;23142699;23202547;23010478 5292 P11309 ABBA01038277;AF386792;AK301158;AK301314;AK309347;AL353579;AMYH01016280;BC020224;CH471081;DA434260;DA481890;DA489942;DQ022562;M16750;M24779;M27903;M54915;NG_029601;NM_001243186;NM_002648 AAA36447;AAA60089;AAA60090;AAA81553;AAH20224;AAK70871;AAY87461;BAG62748;BAG62865;EAX03934;EAX03935;NP_001230115;NP_002639;P11309 Hs.81170 1650087;1669116;2122647;2137470;2159566;2191103;2218714;5494069 D6S1832;D6S2043;G10642;MARC_14741-14742:1010683927:1;PIM1;RH46728;RH69112;UniSTS:463218 PIM OTTHUMP00000018046;Oncogene PIM1;pim-1 kinase 44 kDa isoform;pim-1 oncogene (proviral integration site 1);proto-oncogene serine/threonine-protein kinase pim-1;proviral integration site 1;serine/threonine-protein kinase pim-1 APPROVED protein-coding ENSG00000137193 8986 01292 164960 REVIEWED 1321121 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] 19 19 p13 9806999 9821358 + 9945883 9960365 + 1580863;6480464;6484113;6907045 10037602;11470801;19122240;10391244;8606777;19625347;19458071;19439498;19338781;19288014;19287979;19158244;19151708;19084525;19077306;18844375;18794148;18684817;18676833;18676680;18635547;18294451;18188456;18062707;18039859;18007120;18006688;17938171;17906639;17766376;17681194;17626162;17624454;17482359;17468107;17466629;17393110;17355867;17334375;17317113;17316687;17163675;17082615;16972081;16907857;16865250;16820873;16713569;16701948;16697218;16476580;16449657;16428447;16384626;16273101;16227615;16189514;16169070;16139797;16124054;16123044;16095818;16024801;15964795;15950321;15867923;15701524;15664191;15489334;15474361;15175157;15111319;14967043;14702039;14690596;14572447;14559993;12881709;12792768;12721297;12686540;12579289;12540053;12477932;12410395;12397362;12397361;12388558;12153046;12101225;11988841;11978535;11940573;11787050;11774038;11741599;11575923;11533658;11432833;11356192;10939594;10888662;10504341;10393805;9482729;9299231;9200606;8552658;17670986;9499405;11604498;11326318;10932246;17353931;11805292;16699525;22322860;23030417;16118204;16223725;16554819;17129455;17347650;17878917;19168580;19170196;19565466;19584057;19592546;19597489;19625176;19638580;19668231;19681904;19682092;19692168;19846884;19855176;19904610;19909517;19920136;19940183;19996102;20033770;20060900;20110589;20173753;20179103;20179161;20180533;20376080;19885590;20479004;20580132;20009523;19502098;21051667;15670742;16055720;20569234;20529865;20675384;20622153;20735350;21296877;12107413;21497122;21255181;19141981;21152000;19619441;22894932;22907757;22939629;20359085;21454638;19131971;21693590;21876001;15048125;21714498;23333752;21573702;22184106;21680504;21682951;21741598;21746900;21847096;21967280;21980916;21745146;22011578;21750208;21900206;22158035;21852138;21139048;21890473;22033920;17297438;22064478;18359295;21988832;22623428;22926167;23193159;23362255;23231502;22580604;22608923;21243369;21660049;21764651;21850685;22115795;22566623;17828269;21624135;21685363;22261503;20100838;23272207;23390529;23274710;23606538;22935610;23054026;23067222;23487407;22986147;16365047;22505724;22789442;23025283;23221557 5300 K7EMU7;K7EN45;K7EP26;Q13526 ABBA01029962;AC008752;AF086512;AF501321;AK092970;AK097558;AK291074;AMYH01009463;BC002899;BC031971;BG912418;BI827520;BI827672;BT019331;CA439440;CD675162;CH471106;CR407654;NG_029167;NM_006221;NR_038422;NR_038830;U49070 AAC50492;AAH02899;AAH31971;AAM81970;AAV38138;ABM83904;ABM87225;BAF83763;BAG53486;CAG28582;EAW84057;EAW84058;EAW84059;NP_006212;Q13526 Hs.465849 2159334;2217750;5015879;5016478;5020414;5021369;5022578;5037552 A006W47;D1S1423;D8S2279;GDB:314949;GDB:434012;L17688;L17796;PIN1_3073 DOD;FLJ40239;FLJ77628;MGC10717;UBL5 PPIase Pin1;peptidyl-prolyl cis-trans isomerase NIMA-interacting 1;peptidyl-prolyl cis-trans isomerase Pin1;peptidyl-prolyl cis/trans isomerase, NIMA-interacting;prolyl isomerase;protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1;protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1;rotamase Pin1 APPROVED protein-coding ENSG00000127445 8988 03031 601052 REVIEWED 1314001 PINK1 PTEN induced putative kinase 1 This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008] 1 1 p36 20832535 20850591 + 20959948 20978004 + 2290300;6480464;6907045;7240710 16702191 21242281;14607334;15087508;19492085;19405094;19358826;19285945;19279012;19276113;19270741;19242547;19229105;19224617;19205068;19167501;19152501;19139432;19087301;19076428;19048950;19006224;18973254;18957282;18785233;18704525;18685134;18584234;18560593;18546294;18541801;18524835;18495756;18486522;18469032;18397367;18378882;18359116;18330912;18307263;18286320;18272063;18261714;18211709;18068301;18031932;18003639;17989306;17960343;17950257;17766179;17724286;17707122;17579517;17567565;17557243;17362513;17219214;17202228;17172567;17154281;17141510;17084972;17055324;17017532;17013904;17000703;16969854;16966503;16805805;16769864;16710414;16700027;16672981;16632486;16547921;16482571;16354302;16257123;16226715;16207731;16157901;22076283;22354088;16079129;16046032;16009891;15970950;15955954;15955953;15876334;15824318;15596610;15542245;15505171;15505170;15489334;15349870;15349860;15349859;14702039;12548371;12548343;12477932;12447943;11494141;11254447;20506312;20637729;20842103;21177249;20971498;20508036;20558144;19038850;19214605;19330279;19351622;19500570;19562775;19692353;19726410;19822161;19847793;19880420;19889566;19890973;19904588;19944740;20012177;20034704;20045449;20098416;20146068;20153330;20164189;20171192;20179104;20356854;20376796;20379614;20399249;20404107;20461815;20483373;20513816;20877624;20871098;20547144;21145388;20798600;21138942;21366594;21322020;22910362;23244239;23319602;21408142;21426348;21412950;21606348;21677397;22388932;22238344;15717329;21187721;22043288;22078885;23256036;21987572;22048964;21151955;21743139;22547060;21784538;22057787;22233331;20301402;20301792;22434215;21355049;21925922;22445250;22956510;23303188;21963094;22939624;23212910;23251494;22212487;15894486;17906618;22280891;22396657;22486164;22643835;22724072 65018 Q9BXM7 AB053323;ABBA01059790;AF316873;AK075225;AK130746;AL391357;AMYH01000322;BC009534;BC028215;CH471134;HH961852;NG_008164;NM_032409 AAH09534;AAH28215;AAK28062;ABM81959;ABM84256;ABM85138;ABM87645;BAB55647;BAC11484;CBX51399;EAW94934;EAW94935;NP_115785;Q9BXM7 Hs.389171 1335051;1338217;1667589;1685369;1736090;1776681;2134931;2134939;2138252;2138254;2152961;2159592;7186972 A001Z12;D19S997;D1S2015E;D1S2674;D1S478;D1S483;G19810;G34804;RH12430;RH64541;RH91506;SHGC-2365;WI-15835 BRPK;FLJ27236;PARK6 OTTHUMP00000002881;PTEN-induced putative kinase protein 1;protein kinase BRPK;serine/threonine-protein kinase PINK1, mitochondrial APPROVED protein-coding ENSG00000158828 14581 10514 605909;608309 REVIEWED 1351325 PIP prolactin-induced protein 7 7 q34 142539296 142546956 + 142829174 142836834 + 1580863;6480464 2013294;17353931;19650845;19262752;18930737;18251583;16740002;15489334;12755619;12690205;12477932;11992405;11133986;10820003;10713110;9218538;9074931;3667631;2727805;1955075;15632136;10072505;9724097;19217055;19615732;19620839;15851553;21411781;21883842;22724438;21809344;20360068;21139048;22118674;23011826;23085372;22209935;22354994;22963676;22952844 5304 P12273 AACC02000106;ABBA01034133;AC093659;AK312227;AMYH01018007;BC010950;BC010951;CD723133;CH236959;CH471198;J03460;NM_002652;X51501;Y10179 AAA60091;AAH10950;AAH10951;BAG35160;CAA35870;CAA71252;EAL23781;EAW51887;NP_002643;P12273 Hs.99949 1854207;2168287 PIP1;RH71339 GCDFP-15;GCDFP15;GPIP4 OTTHUMP00000202101;SABP;gross cystic disease fluid protein 15;prolactin-inducible protein;secretory actin-binding protein protein-coding ENSG00000159763 8993 07179 176720 VALIDATED 733243 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 12 12 12 q13.3 57640774 57653027 + 56271324 56283298 + 57984942 57997211 + 1580863;6480464;6907045 18255255;15046600;12477932;9367159;8125298;14614850;18794853;19644859;20439292;21832049;18029348;19322201;21139048 79837 B3KQV3;F8VNT5;F8VU68;F8VVB2;H0YIJ6;Q8TBX8 ABBA01026695;AC022506;AI167420;AK025708;AK075553;AK125526;AK225343;AK225685;AK297243;AK302254;AK315588;AMYH01004522;AX754970;BC028596;BX419431;CH471054;NM_001146258;NM_001146259;NM_001146260;NM_024779 AAH28596;ABM85608;ABW03741;BAB15223;BAG37960;BAG52165;BAG54209;BAG59723;BAG63606;CAD99241;EAW97031;NP_001139730;NP_001139731;NP_001139732;NP_079055;Q8TBX8 Hs.144502 FLJ22055;PIP5K2C OTTHUMP00000243050;OTTHUMP00000243051;OTTHUMP00000243053;OTTHUMP00000243056;PI(5)P 4-kinase type II gamma;PIP4KII-gamma;phosphatidylinositol 4-phosphate 5-kinase;phosphatidylinositol 5-phosphate 4-kinase type II gamma;phosphatidylinositol 5-phosphate 4-kinase type-2 gamma;phosphatidylinositol-4-phosphate 5-kinase, type II, gamma;phosphatidylinositol-5-phosphate 4-kinase type-2 gamma protein-coding ENSG00000166908 23786 15138 VALIDATED 1606271 PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 8 8 p23 10660294 10734709 - 10622884 10697299 - 6480464 15489334;15381700;15044100;14984932;14702039;12508358;12477932;12439923;12107183;11701125;16169070;17353931;11003615;19393617;19265708;19117989;18784941;15637589;19164295;20544396;20620128;18029348;19553660;20056641;20379614;21060863;20367640;20573420;21119197;21139048;22882268;21900206;22331467;20686565;21909108;21044950;22316341;21988832;23341363;22749911 54984 E5RGR1;E5RJG9;F8WBT5;H0YBF0;Q96BK5 ABBA01026888;AC011008;AC105001;AF205718;AF418553;AJ344104;AK313715;AMYH01018478;AY238941;AY262278;AY523566;BC015479;BC043573;BC093762;BC143382;CH471157;NM_017884 AAG18009;AAH15479;AAH93762;AAN31333;AAP12532;AAP37006;AAS19507;BAG36458;CAC51436;EAW65595;EAW65596;EAW65597;NP_060354;Q96BK5 Hs.490991;Hs.583894 1669047;1691114;1790241;2109655;2162291 A004N12;D8S453;PINX1_9861;RH36675;S0006 FLJ20565;LPTL;LPTS;MGC8850 67-11-3 protein;OTTHUMP00000224984;OTTHUMP00000224985;OTTHUMP00000224986;OTTHUMP00000225053;OTTHUMP00000225054;OTTHUMP00000246854;PIN2 interacting protein 1;PIN2-interacting protein 1;PIN2/TERF1-interacting telomerase inhibitor 1;TRF1-interacting protein 1;hepatocellular carcinoma-related putative tumor suppressor;liver-related putative tumor suppressor;pin2-interacting protein X1;protein 67-11-3 APPROVED protein-coding 30046 05934 606505 PROVISIONAL 734348 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008] 10 10 p12.2 22863772 23043509 - 22823766 23003503 - 1580863;6480464;6907045 7639683;19328558;18545987;18364242;18314871;17555944;17410640;16823801;16801950;16094259;15489334;15164054;15046600;14702039;14614854;14614850;14582145;12509423;12477932;9367159;8869744;7852364;7629060;20583997;16385451;19475563;19644675;19656170;19937977;20379614;21041608;21124964;21377334;21139048;21906983;21988832;22190034;23251661;22053931;22952844 5305 B4DGX2;H7BXS3;P48426;Q5JUT2;Q5JUT3 ABBA01034474;ABBA01034475;ABBA01034476;ABBA01034477;AK023329;AK294817;AK294867;AL157707;AL390318;AL513128;AMYH01002183;BC018034;CH471072;DB504104;EF445009;NM_005028;S78798;U14957 AAA64835;AAB35041;AAH18034;ACA06044;ACA06045;BAG57933;BAG57970;EAW86140;EAW86141;NP_005019;P48426 Hs.57079 1336297;1338893;1647557;1651185;1658585;1658649;1685946;1710646;1728105;1739283;1739817;1754101;1773128;1776200;1778785;2144945;2151832;2154476;2184677;7185278 A006T43;D10S1259;D10S1522;D10S1568;D10S1621E;D10S1662;D10S2371;D10S553;G63324;RH46424;RH70570;RH78590;SHGC-132136;SHGC-33797;SHGC-54644;SHGC-58154;SHGC-84121;STS-H93068;WIAF-1715 FLJ13267;PI5P4KA;PIP5K2A;PIP5KII-alpha;PIP5KIIA;PIPK 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha;1-phosphatidylinositol-4-phosphate kinase;1-phosphatidylinositol-4-phosphate-5-kinase;1-phosphatidylinositol-5-phosphate 4-kinase 2-alpha;OTTHUMP00000019300;PI(5)P 4-kinase type II alpha;PIP4KII-alpha;PIP5KIII;PIP5KIIalpha;PtdIns(4)P-5-kinase B isoform;diphosphoinositide kinase 2-alpha;phosphatidylinositol 5-phosphate 4-kinase type II alpha;phosphatidylinositol 5-phosphate 4-kinase type-2 alpha;phosphatidylinositol-4-phosphate 5-kinase, type II, alpha;phosphatidylinositol-5-phosphate 4-kinase type-2 alpha;ptdIns(4)P-5-kinase C isoform;ptdIns(5)P-4-kinase isoform 2-alpha;type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform APPROVED protein-coding ENSG00000150867 8997 11931 603140 REVIEWED 736672 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008] 17 17 17 q12 33582904 33617123 - 34175470 34209684 - 36921944 36956158 - 6480464;6907045 9038203;17303380;16713569;15489334;15046600;14691457;14614850;12477932;12136098;9843587;9753329;9367159;21514270;22939629;21139048;21906983;20881960;18218622 8396 J3QQP6;P78356 ABBA01031898;ABBA01031899;ABBA01031900;ABBA01031901;AC006449;AI333549;AJ331087;AK307169;AMYH01008367;AMYH01008368;BC027459;BC073896;BC094858;BM991982;BT019614;CH471152;NM_003559;U85245 AAB48596;AAH27459;AAV38420;EAW60532;EAW60533;EAW60534;EAW60535;EAW60536;NP_003550;P78356 Hs.743962 1673315;1677276;1678221;1708186;1734404;1734488;1736664;1854310;2109657;2116948;2119618;2125375;2142847;2150957;2176723 D17S1370E;D17S1379E;D17S1442E;D17S1495E;HSC0GG082;IB2317;PIP5K2B__7000;RH16511;RH36358;RH45659;RH76647;RH94016;SHGC-2348;SHGC-2375;SHGC-79346 PI5P4KB;PIP5K2B;PIP5KIIB;PIP5KIIbeta 1-phosphatidylinositol 5-phosphate 4-kinase 2-beta;1-phosphatidylinositol-4-phosphate kinase;1-phosphatidylinositol-5-phosphate 4-kinase 2-beta;OTTHUMP00000164155;PI(5)P 4-kinase type II beta;PIP4KII-beta;PTDINS(4)P-5-kinase;diphosphoinositide kinase 2-beta;phosphatidylinositol 5-phosphate 4-kinase type II beta;phosphatidylinositol 5-phosphate 4-kinase type-2 beta;phosphatidylinositol-4-phosphate 5-kinase, type II, beta;phosphatidylinositol-5-phosphate 4-kinase type-2 beta;ptdIns(5)P-4-kinase isoform 2-beta APPROVED protein-coding ENSG00000141720 8998 04463 603261 REVIEWED 1346757 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase-like 1 PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009] 9 9 9 q34.11 101335032 101344303 - 129723629 129729591 - 130683808 130693076 - 737633;1580863;6480464;6907045 12477932 14701839;17207965;19680787 138429 Q5T9C9 ABBA01043855;AL157935;AMYH01021737;BC042184;BE881330;CH471090;NM_001135219;NM_173492 AAH42184;ADQ32978;EAW87722;EAW87723;EAW87724;EAW87725;EAW87726;EAW87727;EAW87728;NP_001128691;NP_775763;Q5T9C9 Hs.734928 5015861;5109281;7185938 D10S16;D1S1425 MGC46424;PIPKH;RP11-203J24.5;bA203J24.5 OTTHUMP00000022215;OTTHUMP00000162380;PI(4)P 5-kinase-like protein 1;phosphatidylinositol 4-phosphate 5-kinase-like protein 1;phosphatidylinositol phosphate kinase homolog;phosphatidylinositol-4-phosphate 5-kinase-like protein 1;ptdIns(4)P-5-kinase-like protein 1 APPROVED protein-coding ENSG00000167103 28711 15139 612865 VALIDATED 3184211 PIP5K1P2 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2 7 7 7 q36.3 153458537 153462882 + 158716886 158718748 + 159023686 159028019 + 100129824 AACC02000073;ABBA01032296;AF027390;AMYH01018217;CH236954;NG_023450 pseudo 38068 VALIDATED 1351926 PIP5K1L1 phosphatidylinositol-4-phosphate 5-kinase, type I-like 1 10 q23.33 95709663 95711283 - 12477932 100101438 AL365510;BC068549;NG_006440 Hs.149255 MGC87444;bA429H9.1 pseudo 31443 1320550 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010] 19 19 p13.3 3581182 3651445 - 3630179 3700477 - 1580863;6480464;6484113;6907045;7240710 18073347;17928408;17701898;17635937;17261850;17229424;16880396;16707488;15611330;15057824;15046600;14614850;12847086;12682053;12477932;12422220;12422219;11604140;10827173;9628581;9535851;14701839;20668706;20074374;20435073;16169070;17290217;19548880;19903820;21303971;21216957;19889969;22049025;20972266;21139048;21906983;21931851;21987572;22053931 23396 O60331;Q7LE22 AB011161;ABBA01002835;AC004637;AC005542;AC093071;AK301309;AK315912;AMYH01009315;BC004149;BC011138;CH471139;DC389567;FJ965536;FJ965537;NG_012161;NM_001195733;NM_012398;R46767 AAC15471;AAC32904;AAI67798;ACS73483;ACS73484;BAA25515;BAG62861;BAH14283;EAW69295;EAW69296;NP_001182662;NP_036530;O60331 Hs.282177 1681239;2143477;2145948;5491583 MARC_21726-21727:1023205041:3;RH17751;SHGC-12423;WI-15731 KIAA0589;LCCS3;PIP5K-GAMMA;PIP5Kgamma;PIPKIg_v4 Human homolog of mouse phosphatidylinositol-4-phosphate 5-kinase I-gamma;PIP5K1-gamma;PIP5KIgamma;diphosphoinositide kinase;phosphatidylinositol 4-phosphate 5-kinase type I gamma;phosphatidylinositol 4-phosphate 5-kinase type-1 gamma;phosphatidylinositol-4-phosphate 5-kinase type-1 gamma;ptdIns(4)P-5-kinase 1 gamma;type I PIP kinase APPROVED protein-coding ENSG00000186111 8996 05834 606102;611369 REVIEWED 2804371 PIP5K1P1 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 6 6 6 p24.3 9215658 9219899 + 7931237 7935676 + 7986335 7990577 + 12477932;21139048 206426 ABBA01022052;AK312819;AL096800;AMYH01016065;BC028580;NR_027712 ABM82500;ABM85694;BAG35676 Hs.676966 1808550;5124083 ECD05257;RH70033 MGC26597 pseudo 28372 VALIDATED 1322093 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 9 9 q13 70510436 70813911 + 71320616 71624091 + 6480464;6484113;6907045 8955136;17353931;18158329;15489334;15164053;15046600;14701839;14614850;12477932;9177790;8841185;7581382;20442317;20624912;19553680;19850283;20379614;20383146;21906983;23000965;23192594;8889548;23470693 8395 B4DIG7;Q7KYT5 ABBA01033794;ABBA01033795;ABBA01033796;ABBA01033797;AK292734;AK295587;AL162730;AL354794;AL356219;AMYH01021382;AMYH01021383;BC030587;CB988216;CH471089;CK299479;NM_001278253;NM_003558;U52387;U78579;U78580;U78581 AAC50914;AAC50915;AAC50916;AAC51327;AAH30587;ABM81800;ABM84956;BAF85423;BAG58479;EAW62465;EAW62466;EAW62467;NP_001265182;NP_003549;O14986 Hs.534371 1337784;1339273;1663832;1709960;1722311;1726645;1732407;1732409;1732411;1753345;1755955;1762837;1763503;1773960;1787086;2112078;2115672;2140115;2140117;5093462 A006H39;A009P17;D9S1787;D9S1879;D9S2103;D9S887;D9S888;D9S889;G20821;G32732;G60071;G62557;SHGC-107181;SHGC-142776;SHGC-146607;SHGC-147203;SHGC-154986;SHGC-82248;STS-U78579;WIAF-1634 MSS4;STM7 OTTHUMP00000021423;OTTHUMP00000021424;PIP5K1-beta;PIP5KIbeta;phosphatidylinositol 4-phosphate 5-kinase type I beta;phosphatidylinositol 4-phosphate 5-kinase type-1 beta;phosphatidylinositol-4-phosphate 5-kinase type-1 beta;protein STM-7;ptdIns(4)P-5-kinase 1 beta;type I phosphatidylinositol 4-phosphate 5-kinase beta;type I phosphatidylinositol-4-phosphate 5-kinase beta protein-coding ENSG00000107242 8995 04121 602745 VALIDATED 1354329 PISRT1 polled intersex syndrome regulated transcript 1 homolog (goat) 140464 AF404302 16671 3539788 PIRT phosphoinositide-interacting regulator of transient receptor potential channels 17 17 17 p12 10756635 10772261 - 10666517 10682143 - 10725792 10741418 - 11181995;14702039;18455988 644139 P0C851 ABBA01054981;AC015908;AK021549;AK299808;AMYH01008107;CH471108;DC332889;NM_001101387 BAH13134;EAW89989;NP_001094857;P0C851 Hs.553909 phosphoinositide-interacting protein;phosphoinositide-interacting regulator of TRPV1 protein-coding 37239 612068 VALIDATED 1314561 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 1 1 q21.3 149437696 149488629 + 151171021 151222007 + 1580863;6480464;6484113;6907045 8955136;19331818;19158393;18981107;18534983;18073347;17567994;17496116;16979564;16710414;16344560;15870270;15489334;12682053;12477932;10828584;14701839;11032811;10589680;10747863;18288197;18305108;20426790;11042212;14614850;14614854;15046600;15157668;16169070;20660631;18029348;21832049;22939629;21963094;23000965;23382074;23589613;19889969;18781797;20639865;21987572;21139048;21890473;21906983;22053931;22505724 8394 A2A5X0;A6PW56;A6PW57;A6PW58;B4DY52;E9PSF8;Q99755 ABBA01049383;ABBA01049384;ABBA01049385;ABBA01049386;AF085856;AK291015;AK295691;AK302268;AK309826;AL592424;AMYH01001386;BC007833;CH471121;DA759212;DQ656041;NM_001135636;NM_001135637;NM_001135638;NM_003557;U78575;U78576;U78577;U78578 AAC50910;AAC50911;AAC50912;AAC50913;AAH07833;BAF83704;BAG58542;BAG63614;EAW53459;EAW53460;EAW53461;NP_001129108;NP_001129109;NP_001129110;NP_003548;Q99755 Hs.655131;Hs.661888 1678567;1685365;1690690;1807128;1807184;1808550;1808694;1809920;1810220;1810222;1812202;1816420;1817440;1817826;1819078;1820162;1821236;1822840;1825396;1825554;1826364;1826824;1828020;1828022;1831238;1831450;1832782;1833340;1833454;1834376;1835870;1836838;1836880;1837114;1837538;1837932;1839120;1840680;1842286;1843172;1844826;1844828;1845070;1845392;1845928;1924750;1924752;1924754;1924756;1924758;1924760;1924762;1924764;1924766;1924768;1924770;1924772;1924774;1924776;1924778;1924780;1924782;1924784;1924786;1924788;1924790;1924792;1924794;1924796;1924798;1924800;1924802;1924804;1924806;1924808;1924810;1924812;1924814;1924816;1924818;1924820;1924822;1924824;1924826;1924828;1924830;1924832;1924834;1924836;1924838;1924840;1924842;1924844;1924846;1924848;1924850;1924852;1924854;1924856;1924858;1924860;1924862;1924864;1924866;1924868;1924870;1924872;1924874;1924876;1924878;1924880;1924882;1924884;1924886;1924888;1924890;1924892;1924894;1924896;1924898;1924900;1924902;1924904;1924906;1924908;1924910;1924912;1924914;1924916;1924918;1924920;1924922;1924924;1924926;1924928;1924930;1924932;1924934;1924936;1924938;1924940;1924942;1924944;1924946;1924948;1924950;1924952;1924954;1924956;1924958;1924960;1924962;1924964;1924966;1924968;1924970;1924972;1924974;1924976;1924978;1924980;1924982;1924984;1924986;1924988;1924990;1924992;1924994;1924996;1924998;1925000;1925002;1925004;1925006;1925008;1925010;1925012;1925014;1925016;1925018;1925020;1925022;1925024;1925026;1925028;1925030;1925032;1925034;1925036;1925038;1925040;1925042;1925044;1925046;1925048;1925050;1925052;1925054;1925056;1925058;1925060;1925062;1925064;1925066;1925068;1925070;1925072;1925074;1925076;1925078;1925080;1925082;1925084;1925086;1925088;1925090;1925092;1925094;1925096;1925098;1925100;1925102;1925104;1925106;1925108;1925110;1925112;1925114;1925116;1925118;1925120;1925122;1925124;1925126;1925128;1925130;1925132;1925134;1925136;1925138;1925140;1925142;1925144;1925146;2106569;2117421;2146908;2166822;2207462;2207464;2207466;2207468;2207470;2207472;2207474;2207476;2207478;2207480;2207482;2207484;2207486;2207488;2207490;2207492;2207494;2207496;2207498;2207500;2207502;2207504;2207506;2207508;2207510;2207512;2207514;2207516;2207518;2207520;2207522;2207524;2207526;2207528;2207530;2207532;2207534;2207536;2207538;5092664;5124083 A005O11;ECD04529;ECD04558;ECD05257;ECD05329;ECD05952;ECD06102;ECD06103;ECD07107;ECD09252;ECD09770;ECD09967;ECD10605;ECD11155;ECD11695;ECD12508;ECD13805;ECD13885;ECD14295;ECD14527;ECD15133;ECD15134;ECD16755;ECD16861;ECD17532;ECD17813;ECD17870;ECD18336;ECD19096;ECD19583;ECD19604;ECD19722;ECD19936;ECD20137;ECD20739;ECD21531;ECD22346;ECD22794;ECD23629;ECD23630;ECD23752;ECD23913;ECD24184;G32248;PIP5K1A__5701;REN33200;REN33201;REN33202;REN33203;REN33204;REN33205;REN33206;REN33207;REN33208;REN33209;REN33210;REN33211;REN33212;REN33213;REN33214;REN33215;REN33216;REN33217;REN33218;REN33219;REN33220;REN33221;REN33222;REN33223;REN33224;REN33225;REN33226;REN33227;REN33228;REN33229;REN33230;REN33231;REN33232;REN33233;REN33234;REN33235;REN33236;REN33237;REN33238;REN33239;REN33240;REN33241;REN33242;REN33243;REN33244;REN33245;REN33246;REN33247;REN33248;REN33249;REN33250;REN33251;REN33252;REN33253;REN33254;REN33255;REN33256;REN33257;REN33258;REN33259;REN33260;REN33261;REN33262;REN33263;REN33264;REN33265;REN33266;REN33267;REN33268;REN33269;REN33270;REN33271;REN33272;REN33273;REN33274;REN33275;REN33276;REN33277;REN33278;REN33279;REN33280;REN33281;REN33282;REN33283;REN33284;REN33285;REN33286;REN33287;REN33288;REN33289;REN33290;REN33291;REN33292;REN33293;REN33294;REN33295;REN33296;REN33297;REN33298;REN33299;REN33300;REN33301;REN33302;REN33303;REN33304;REN33305;REN33306;REN33307;REN33308;REN33309;REN33310;REN33311;REN33312;REN33313;REN33314;REN33315;REN33316;REN33317;REN33318;REN33319;REN33320;REN33321;REN33322;REN33323;REN33324;REN33325;REN33326;REN33327;REN33328;REN33329;REN33330;REN33331;REN33332;REN33333;REN33334;REN33335;REN33336;REN33337;REN33338;REN33339;REN33340;REN33341;REN33342;REN33343;REN33344;REN33345;REN33346;REN33347;REN33348;REN33349;REN33350;REN33351;REN33352;REN33353;REN33354;REN33355;REN33356;REN33357;REN33358;REN33359;REN33360;REN33361;REN33362;REN33363;REN33364;REN33365;REN33366;REN33367;REN33368;REN33369;REN33370;REN33371;REN33372;REN33373;REN33374;REN33375;REN33376;REN33377;REN33378;REN33379;REN33380;REN33381;REN33382;REN33383;REN33384;REN33385;REN33386;REN33387;REN33388;REN33389;REN33390;REN33391;REN33392;REN33393;REN33394;REN33395;REN33396;REN33397;REN33398;RH46454;RH67813;RH70033;RH76364;RH81051;STS-U78575;stSG627012;stSG627014;stSG627015;stSG627016;stSG627017;stSG627018;stSG627019;stSG627020;stSG627021;stSG627022;stSG627023;stSG627024;stSG627025;stSG627026;stSG627027;stSG627028;stSG627030;stSG627031;stSG627032;stSG627033;stSG627034;stSG627035;stSG627036;stSG627037;stSG627038;stSG627039;stSG627040;stSG627041;stSG627042;stSG627043;stSG627044;stSG627045;stSG627046;stSG627047;stSG627048;stSG627049;stSG627050;stSG627051;stSG627052 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha;68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;OTTHUMP00000014289;OTTHUMP00000014290;OTTHUMP00000014291;OTTHUMP00000196331;OTTHUMP00000235065;PIP5K1-alpha;PIP5KIalpha;phosphatidylinositol 4-phosphate 5-kinase type I alpha;phosphatidylinositol 4-phosphate 5-kinase type-1 alpha;phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;ptdIns(4)P-5-kinase 1 alpha protein-coding ENSG00000143398 8994 603275 VALIDATED 1342511 PIR pirin (iron-binding nuclear protein) This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] X X p22.2 15312842 15421385 - 15402921 15511711 - 737633;1580863;6480464 12477932 10362352;9079676;15951572;15489334;15231748;14573596;12876364;21514450;19766747;20010624;20089166;20711196;16344560;17213182;22939629;22318606 8544 O00625 ABBA01071296;ABBA01071297;ABBA01071298;ABBA01071299;ABBA01071300;ABBA01071301;ABBA01071302;ABBA01071303;ABBA01071304;ABBA01071305;ABBA01071306;ABBA01071307;ABBA01071308;ABBA01071309;ABBA01071310;AC095351;AC097625;AK309656;AMYH01022106;AMYH01022107;BC002517;BT019583;BT019584;CH471074;CR541822;DA686501;DT217415;NG_012549;NM_001018109;NM_003662;U75931;Y07867;Y07868 AAH02517;AAV38390;AAV38391;ABM82867;ABM86054;CAA69194;CAA69195;CAG46621;EAW98886;EAW98887;EAW98888;NP_001018119;NP_003653;O00625 Hs.495728;Hs.732521 1701784;1702230;1737563;1787222;1846696;2109659;2141955;2143010;2149250;2168923;2183078;7184785;7184839 AF020096;DXS207;DXS6727;DXS6757;DXS7169;DXS7696;DXS7968;PIR_8825;SHGC-111483;SHGC-34929;STS-H69335 OTTHUMP00000022961;OTTHUMP00000022962;pirin;probable quercetin 2,3-dioxygenase PIR;probable quercetinase APPROVED protein-coding ENSG00000087842 30048 04510 603329 REVIEWED 6767066 PITPNA-AS1 PITPNA antisense RNA 1 17 p13.3 1420213 1421390 + 16344560;7566098;8889548 100306951 AA341969;ABBA01054666;AC100748;AMYH01008000;CA311656;DB053306;NG_029891;NR_028514 Hs.633815 1771230;1849981;2148550;2156628 A004M12;D17S1376E;SHGC-32158;SHGC-34337 APPROVED miscrna ENSG00000236618 44116 VALIDATED 1602824 PIPSL PIP5K1A and PSMD4-like, pseudogene This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009] 10 10 10 q23.33 89458049 89461808 - 95708422 95709661 - 95717897 95721672 - 17623810;16344562;15489334;15164054;12477932;20525901;22939629;21906983 266971 A2A3N6 ABBA01021865;AL365510;AMYH01002964;BC068549;NR_002319 A2A3N6 Hs.149255 1925084;5113979;5122690 REN33367;RH26962;SHGC-52120 FLJ33990;MGC87444;PIP5K1L1;PIP5K1P3;PSMD4P2;bA429H9.1 APPROVED pseudo ENSG00000180764 23733 VALIDATED 1322755 PIPOX pipecolic acid oxidase 17 17 17 q11.2 24229276 24243594 + 24394044 24408362 + 27369918 27384236 + 1580863;6480464;6907045 10642506;15489334;14702039;12477932;11330064;10931946;10772957;21044950;20634891;16169070;20178365 51268 K7EJU8;K7EK30;Q9P0Z9 ABBA01015034;AC024619;AF134593;AF136970;AK022773;AK027498;AMYH01008286;BC008960;BC027622;C21024;CH471159;CR457155;NM_016518 AAF37331;AAG49431;AAH08960;AAH27622;ABM87537;ABW03898;BAG51332;CAG33436;EAW51168;EAW51169;NP_057602;Q9P0Z9 Hs.462585 1678535;1680970;5017227;5093808 G32936;G38154;RH36300;RH67627 LPIPOX L-pipecolate oxidase;L-pipecolic acid oxidase;OTTHUMP00000163523;PSO;peroxisomal sarcosine oxidase protein-coding ENSG00000179761 17804 17853 VALIDATED 1603974 PITHD1 PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 1 1 1 p36.11 22434441 22444284 + 23977470 23987309 + 24104876 24114722 + 6480464 16344560;16236267;12477932;16169070;21139048;21890473;21906983;19322201 57095 Q9GZP4 ABBA01059886;AF218024;AF221595;AF271784;AK296662;AK310330;AK313005;AL031295;AMYH01000363;BC017208;CH471134;DB104988;NM_020362 AAF91232;AAG17266;AAG44795;AAH17208;ABM82845;ABM86029;BAG35841;BAG59259;EAW95074;EAW95075;EAW95076;NP_065095;Q9GZP4 Hs.31819 1695030;2137697 G44729;SHGC-74385 C1orf128;HT014;RP5-886K2.4;TXNL1CL HT014;OTTHUMP00000002997;PITH domain-containing protein 1;TXNL1 C-terminal like;chromosome 1 open reading frame 128 APPROVED protein-coding ENSG00000057757 25022 13717 VALIDATED 1312467 PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012] 17 17 17 q24.2 61946516 62261730 + 62804386 63120109 + 65373397 65693379 + 6480464 10531358;16189514;14702039;12477932;12401207;8889548;17090528;17543578;22865700;19060904;21728994;22822086 26207 E7EU35;J3QR20;J3QRS7;J3QS95;J9JID9;Q9UKF7 ABBA01028984;ABBA01028985;ABBA01028986;ABBA01028987;ABBA01028988;ABBA01028989;ABBA01028990;ABBA01028991;ABBA01028992;ABBA01028993;ABBA01028994;ABBA01028995;ABBA01028996;ABBA01028997;ABBA01028998;ABBA01028999;ABBA01029000;AC079331;AC110921;AF171102;AI126821;AK094724;AK290838;AK307138;AMYH01008584;AMYH01008585;BC007905;BC037261;BC067095;BE906407;BG504645;BM678261;BU160959;CH471099;NM_012417;NM_181671 AAF06148;AAH07905;AAH67095;BAF83527;EAW89030;EAW89031;EAW89032;NP_036549;NP_858057;Q9UKF7 Hs.591185 1335142;1335221;1342030;1669488;1689426;1721409;1759189;2110653;2142200;2156698;2170458;5020124;5127911 D10S1777;D17S1813;D17S1870;G59556;PITPNC1_9470;RH12432;RH70152;RH94363;SHGC-143615;SHGC-151140;SHGC-152196;SHGC-31408;WIAF-2541 M-RDGB-beta;MRDGBbeta;RDGB-BETA;RDGBB;RDGBB1 M-rdgB beta;cytoplasmic phosphatidylinositol transfer protein 1;mammalian rdgB homolog beta;mrdgBbeta;rdgBbeta;retinal degeneration B beta 1;retinal degeneration B homolog beta APPROVED protein-coding ENSG00000154217 21045 05504 605134 REVIEWED 1352423 PITPNA phosphatidylinositol transfer protein, alpha This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009] 17 17 p13.3 1368033 1412835 - 1421283 1466110 - 1580863;6480464 8194769;17353931;7914867;18029348;17672918;15489334;15322105;12621583;12477932;11923101;9230105;9169461;8999962;8541325;8255295;7761838;1883207;15182174;20471030;17207965;16244667;21139048;21890473;21900206;21906983 5306 F5GWE5;I3L2X8;I3L3W1;I3L459;I3L471;I3L4C0;I3L4H1;I3L4U7;I3NI10;Q00169 ABBA01054666;AC100748;AK303986;AL117644;AL542612;AMYH01008000;BC027177;BC045108;BC068538;BC082976;CH471108;D30036;M73704;NG_013017;NM_006224 AAA36441;AAH45108;AAH68538;AAH82976;ADQ32152;BAA06276;BAG64903;EAW90610;EAW90611;EAW90612;NP_006215;Q00169 Hs.429819 1341713;1662050;1683946;1698410;1724315;1736943;1769124;1771230;1849981;1857697;2130765;2140966;2148550;2156628;5092998 A004M12;A009D46;D16S3107;D17S1376E;D17S1577;G32460;G33137;RH102747;RH119079;RH92932;SHGC-32158;SHGC-34337;STS-F09512;STS-T86162;WI-11384 MGC99649;PI-TPalpha;PITPN;VIB1A PI-TP-alpha;phosphatidylinositol transfer protein alpha isoform;ptdIns transfer protein alpha;ptdInsTP alpha APPROVED protein-coding ENSG00000174238 9001 02548 600174 REVIEWED 1322017 PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 123060820 123187881 - 122033980 122160928 - 123468027 123594975 - 1580863;6480464 10022914;18029348;15627748;12522145;12477932;10819331;21507922 57605 E7EQC3;F5H361;F5H664;Q9BZ72;Q9UF51 AB040890;ABBA01060436;ABBA01060437;ABBA01060438;ABBA01060439;AC026362;AC073857;AF334585;AK026156;AL133612;AMYH01004835;BC025360;BC040063;BC050567;BC141813;CH471054;NM_020845 AAI41814;AAK01445;BAA95981;CAB63741;EAW98383;EAW98384;EAW98385;EAW98386;NP_065896;Q9BZ72 Hs.272759 1719441;1757127;1767389;1782742;2106775 D12S2067;GC18S01;RH123438;SHGC-144564;SHGC-156254 KIAA1457;NIR-3;NIR3;RDGB2;RDGBA2 NIR-3;OTTHUMP00000239612;OTTHUMP00000239613;PITPnm 2;PYK2 N-terminal domain-interacting receptor 3;membrane-associated phosphatidylinositol transfer protein 2;retinal degeneration B alpha 2 APPROVED protein-coding ENSG00000090975 21044 08335 608920 VALIDATED 1352965 PISD phosphatidylserine decarboxylase Phosphatidylserine decarboxylases (PSDs; EC 4.1.1.65) catalyze the formation of phosphatidylethanolamine (PE) by decarboxylation of phosphatidylserine (PS). Type I PSDs, such as PISD, are targeted to the inner mitochondrial membrane by an N-terminal targeting sequence. PISD also contains a conserved LGST motif that functions as an autocatalytic cleavage site where the proenzyme is split into mature alpha and beta subunits (Schuiki and Daum, 2009 [PubMed 19165886]).[supplied by OMIM, Jul 2010] 22 22 22 q12.2 15814919 15827252 - 30344477 30356810 - 32014477 32026810 - 1580863;6480464;6484113;6907045 19165886;17478478;16381901;16192276;15790807;15489336;15489334;15461802;12477932;11256614;11076863;10591208;9110174;8870646;8619474;16169070;20877624;22990118;21139048;21890473 23761 B1AKM6;B1AKM8;B1AKM9;B1AKN0;F8WCS6;H0Y7P7;Q9UG56 ABBA01055341;AF035304;AF086277;AK298474;AL050371;AL096768;AMYH01012719;AY927618;BC001482;BC009315;CH471095;CR456540;NM_014338 AAB88186;AAH01482;AAH09315;ABM86382;ABW03477;ABW03791;BAG60685;CAB43678;CAG30426;CAK54571;CAK54870;CAL38509;EAW59984;EAW59985;EAW59986;EAW59987;EAW59988;EAW59989;EAW59990;EAW59991;NP_055153;Q9UG56 Hs.420559 1788600;1798600;1798602;1798690;1798702;1798948;1804122;1806446;1806930;1808092;1812562;1813294;1813592;1825504;1825658;1829442;1834540;1841604;2007446;2007448;2007450;2007452;2007454;2007456;2007458;2007460;2007462;2007464;2007466;2007468;2007470;2007472;2007474;2007476;2007478;2007480;2007482;2007484;2007486;2007488;2007490;2007492;2007494;2007496;2007498;2007500;2007502;2007504;2007506;2007508;2007510;2007512;2007514;2007516;2007518;2007520;2007522;2007524;2007526;2007528;2007530;2007532;2007534;2007536;2007538;2007540;2007542;2007544;2007546;2007548;2007550;2007552;2007554;2007556;2007558;2007560;2007562;2007564;2007566;2007568;2007570;2007572;2007574;2097622;2097624;2097626;2097628;2097630;2097632;2097634;2097636;2097638;2097640;2097642;5016004 ECD00139;ECD00140;ECD00185;ECD00191;ECD00315;ECD02979;ECD04179;ECD04430;ECD05024;ECD07291;ECD07667;ECD07819;ECD13860;ECD13937;ECD15852;ECD18418;ECD21999;MARC3174-3175;Ptdss2;REN74640;REN74641;REN74642;REN74643;REN74644;REN74645;REN74646;REN74647;REN74648;REN74649;REN74650;REN74651;REN74652;REN74653;REN74654;REN74655;REN74656;REN74657;REN74658;REN74659;REN74660;REN74661;REN74662;REN74663;REN74664;REN74665;REN74666;REN74667;REN74668;REN74669;REN74670;REN74671;REN74672;REN74673;REN74674;REN74675;REN74676;REN74677;REN74678;REN74679;REN74680;REN74681;REN74682;REN74683;REN74684;REN74685;REN74686;REN74687;REN74688;REN74689;REN74690;REN74691;REN74692;REN74693;REN74694;REN74695;REN74696;REN74697;REN74698;REN74699;REN74700;REN74701;REN74702;REN74703;REN74704;stSG602166;stSG602167;stSG602168;stSG602169;stSG602170;stSG602171;stSG602172;stSG602173;stSG602174;stSG602175;stSG602176 DJ858B16;DKFZp566G2246;PSD;PSDC;PSSC;dJ858B16.2 OTTHUMP00000063300;OTTHUMP00000063301;OTTHUMP00000194755;phosphatidylserine decarboxylase proenzyme APPROVED protein-coding ENSG00000241878 8999 17854 612770 VALIDATED 736239 PITPNB phosphatidylinositol transfer protein, beta The protein encoded by this gene is found in the cytoplasm, where it catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 12047622 12115220 - 26577657 26645255 - 28247657 28315255 - 1580863;6480464 8541325;18029348;16780419;15489334;15461802;15231748;14702039;12477932;12023904;10591208;1883207;20332109;21552555;20639865;21139048;21890473;21906983;19322201;22505724 23760 B3KYB6;B3KYB7;B7Z7Q0;P48739 ABBA01055216;ABBA01055217;AK123384;AK302367;AK313064;AL031591;AMYH01012685;BC018704;BC031427;BU147254;CA435279;CH471095;CR456541;D30037;NM_012399 AAH18704;AAH31427;BAA06277;BAG35893;BAG53898;BAH13686;CAG30427;CAK54572;CAK54871;EAW59743;EAW59744;EAW59745;NP_036531;P48739 Hs.705323 1745165;1768104;1784498;1849499;1851923;2152155;2164047 A006Q06;D22S1104;D22S989E;GDB:595848;SGC31665;SHGC-144047;WI-11820 PI-TP-beta;PtdInsTP;VIB1B OTTHUMP00000198846;OTTHUMP00000198847;PtdIns transfer protein beta;phosphatidylinositol transfer protein beta isoform;phosphotidylinositol transfer protein, beta;ptdInsTP beta APPROVED protein-coding ENSG00000180957 9002 06044 606876 REVIEWED 1315482 PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] 11 11 q13 67015815 67028416 - 67259239 67272843 - 1580863;6480464 9245688;9680295;17090528;17081983;16344560;15723057;15627748;15545272;15489334;15302935;15125835;12477932;12225667;12077336;11909959;10022914;1903119;21822266 9600 B2R787;E9PMS0;E9PMZ6;E9PNU6;E9PSD1;O00562 AA465501;ABBA01024030;AF334584;AK126944;AK312886;AMYH01003747;AP001184;AY429102;BC022230;CH471076;DA318858;NM_001130848;NM_004910;X98654 AAH22230;AAK01444;AAR06909;ABM82109;ABW03364;BAG35734;BAG54406;CAA67224;EAW74638;EAW74639;EAW74640;EAW74641;EAW74642;EAW74643;NP_001124320;NP_004901;O00562 Hs.372295 1663930;2117977;2155071;2166988;2191089 MARC_14467-14468:1010602982:1;RH77932;SHGC-34148;WI-13814;WI-22393 DRES9;FLJ44997;NIR2;PITPNM;RDGB;RDGB1;RDGBA;RDGBA1;Rd9 NIR-2;OTTHUMP00000236414;OTTHUMP00000236415;PITPnm 1;PYK2 N-terminal domain-interacting receptor 2;drosophila retinal degeneration B homolog;membrane-associated phosphatidylinositol transfer protein 1;retinal degeneration B alpha 1 APPROVED protein-coding ENSG00000110697 9003 07497 608794 VALIDATED 1317841 PITPNM3 PITPNM family member 3 This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 17 p13 6375097 6480841 - 6299347 6400601 - 6354583 6459877 - 1580863;6480464;7240710 10022914;18188949;17377520;15627748;12477932;20590364;21481794 83394 A1A5C9;I3L1K1;Q9BZ71 AB209130;ABBA01054828;ABBA01054829;ABBA01054830;ABBA01054831;ABBA01054832;ABBA01054833;ABBA01054834;AC055872;AF334586;AI333030;AK297617;AL389994;AMYH01008058;AMYH01008059;AMYH01008060;BC020484;BC035799;BC128583;BC128584;CH471108;NG_016020;NM_001165966;NM_031220 AAI28584;AAI28585;AAK01446;BAD92367;BAH12631;CAB97544;EAW90304;EAW90305;NP_001159438;NP_112497;Q9BZ71 Hs.183983 1670531;1671135;1701620;1729972;1734486;1794896;2111310;2156129 D17S1441E;D17S2057;D17S260;D17S570;D17S600;PMC84020P1;RH104452;RH15958 ACKR6;CORD5;MGC157740;MGC157741;NIR1;RDGBA3 NIR-1;OTTHUMP00000128203;PITPnm 3;PYK2 N-terminal domain-interacting receptor 1;atypical chemokine receptor 6;cone rod dystrophy 5;membrane-associated phosphatidylinositol transfer protein 3;phosphatidylinositol transfer protein, membrane-associated 3;retinal degeneration B alpha 3 APPROVED protein-coding ENSG00000091622 21043 07498 600977;608921 REVIEWED 7177454 PITRM1-AS1 PITRM1 antisense RNA 1 10 3183793 3190821 + 12477932;14702039;16344560 100507034 ABBA01035230;AK097545;AL451164;AMYH01001989;BC050332;DB040375;NR_038284 Hs.665365 miscrna ENSG00000237399 44675 VALIDATED 733838 PITX1 paired-like homeodomain 1 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008] 5 5 q31.1 134391323 134397863 - 134363424 134369964 - 1580863;6480464;7240710 9070926;19414376;18950742;18391951;18186570;18053270;17984056;17762884;17549029;17081983;16291394;16189514;15489334;15372022;12915995;12620797;12477932;12223489;11048804;10372733;10369682;10082522;9343431;9337397;9186059;8755540;15960973;20498720;20634891;21323949;18029348;20054692;20563669;18339718;17043312;21300782;23568457;21425961;21868451;22258522;22658931;20881960;23587911;23263487;22438068;23022097 5307 D6R955;D6R9U1;H0YJC8;P78337 ABBA01068730;AC004764;AC008406;AF009648;AF009649;AF009650;AK290635;AL578756;AMYH01015626;AMYH01015627;BC003685;BC009412;BX362641;CH471062;CS278249;NG_012114;NM_002653;U70370 AAB65251;AAC17733;AAC51126;AAH03685;AAH09412;ABZ92176;ADZ15649;BAF83324;CAJ86537;EAW62226;EAW62227;NP_002644;P78337 Hs.84136 5492318 Pitx1 BFT;CCF;LBNBG;POTX;PTX1 OTTHUMP00000159412;OTTHUMP00000223125;hindlimb expressed homeobox protein backfoot;hindlimb-expressed homeobox protein backfoot;homeobox protein PITX1;paired-like homeodomain transcription factor 1;pituitary homeo box 1;pituitary homeobox 1;pituitary otx-related factor APPROVED protein-coding 9004 03688 119800;186550;602149 REVIEWED 731390 PITX2 paired-like homeodomain 2 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 4 4 q25 111758028 111777957 - 111538579 111563279 - 737814;1580863;5131995;5131997;6480464;6907045;7240710 10499585;20926632;17982271 15385555;9708732;9618168;19233404;19174163;19052653;18946986;18775326;18711169;18616618;18331556;18312615;17850355;17603472;17558846;17486624;17197537;17167399;17065505;16936096;16876867;16834779;16638984;16498627;16449236;16274491;15895993;15728254;15591271;15489334;15466416;15255117;14975719;14630904;12732450;12612071;12477932;12464179;12381896;12223489;12130547;11948188;11821690;11774072;11763998;11487566;11157981;10372733;10051017;9685346;9539779;17965955;9437321;8944018;8942889;7581385;1303248;16884686;19218601;19251162;19513095;19597492;19801652;19954729;20022124;20170812;20173747;20332099;20211142;20881294;20478579;20875405;19913121;20628086;20634891;20372070;20881290;15342556;18339718;23042660;21837767;21414601;21574119;20978111;21282332;21498098;21427120;21617755;21511879;21810944;21479692;21278591;21531708;22224469;22569110;23088713;23229549;22544366;20301552;21221769;22555092;22735262;22615897;23132660;23041239;22495974;23354914 5308 A8MUL9;D6RBG8;D6RFI4;G3V2Z0;Q99697 ABBA01063799;AC017068;AF048720;AF048721;AF048722;AF238048;AK127829;AK291591;AK313987;AMYH01014462;BC013998;BC106010;BP372081;BX380370;CH471057;NG_007120;NM_000325;NM_001204397;NM_001204398;NM_001204399;NM_153426;NM_153427;U69961 AAC16257;AAC39716;AAC39717;AAC39718;AAH13998;AAI06011;AAK15048;ABM84352;ABM87740;BAF84280;BAG36699;BAG54582;EAX06262;EAX06263;EAX06264;NP_000316;NP_001191326;NP_001191327;NP_001191328;NP_700475;NP_700476;Q99697 Hs.643588;Hs.738484 1672381;1796516;2151576;5095088 D4S3305;PITX2_380;Pitx2;SHGC-50188 ARP1;Brx1;IDG2;IGDS;IGDS2;IHG2;IRID2;MGC111022;MGC20144;Otlx2;PTX2;RGS;RIEG;RIEG1;RS ALL1-responsive protein ARP1;OTTHUMP00000163734;OTTHUMP00000163735;OTTHUMP00000163736;OTTHUMP00000163737;OTTHUMP00000163738;OTTHUMP00000219750;OTTHUMP00000219751;all1-responsive gene 1;homeobox protein PITX2;paired-like homeodomain transcription factor 2;pituitary homeo box 2;pituitary homeobox 2;rieg bicoid-related homeobox transcription factor 1;solurshin APPROVED protein-coding ENSG00000164093 9005 03328 137600;180500;180550;601542;604229 REVIEWED 732297 PITX3 paired-like homeodomain 3 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008] 10 10 q24.32 103979936 103991221 - 103989946 104001231 - 737764;1580863;6480464;7240710 9620774 19394114;19345444;19204726;19058789;18989383;18420308;17905480;17888164;17017509;16636655;16565358;16477036;16272057;15489334;15286169;12477932;6801987;20570600;20376326;20468068;19144721;22429667;21368136;21524731;21633712;21565251;21469209;22103961;21138504;22037506;22411443;21836522;22223473;22309633;20301552 5309 O75364 ABBA01063164;AF041339;AL160011;AMYH01003017;BC011642;CH471066;NG_008147;NM_005029 AAC24502;AAH11642;ABM82871;ABM86057;ABM86058;EAW49709;EAW49710;NP_005020;O75364 Hs.137568 1729069;1729071;1758137;5492029 D1Bda64;Pitx3;SHGC-147498;UniSTS:144187 CTPP4;CTRCT11;MGC12766;PTX3 OTTHUMP00000020362;homeobox protein PITX3;pituitary homeobox 3 APPROVED protein-coding ENSG00000107859 9006 04051 107250;602669;610623 REVIEWED 1351572 PIWIL3 piwi-like RNA-mediated gene silencing 3 This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 22 22 22 q11.23 8919401 8975139 - 23445001 23500683 - 25115001 25170687 - 12906857;12477932;18616918;20940137 440822 B4DYF7;E9PIP6;Q7Z3Z3 AB079368;ABBA01055151;ABBA01055152;ABBA01055153;AK302409;AK315806;AMYH01012670;AP000358;AP000359;BC144693;BC144696;CH471095;NM_001008496;NM_001255975;NR_045648;NR_045649 AAI67797;BAC81343;BAG63719;EAW59679;NP_001008496;NP_001242904;Q7Z3Z3 Hs.448343 HIWI3 OTTHUMP00000198494;OTTHUMP00000235445;OTTHUMP00000235446;piwi-like 3;piwi-like protein 3 APPROVED protein-coding ENSG00000184571 18443 17855 610314 VALIDATED 1315877 PIWIL2 piwi-like RNA-mediated gene silencing 2 PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 21095224 21174910 + 22188796 22269545 + 22132810 22213584 + 1580863;6480464 12906857;20490325;16377660;15489334;14736746;14702039;12477932;11279525;22848678;19683485;20460541;20846497;20940137;23104504;22748119;23505323;21575418;22303479;22110608;23112866;23292864 55124 Q9NW28 AB079367;ABBA01005510;ABBA01005511;AC105206;AC105910;AK000397;AK001213;AK027497;AK056418;AK291038;AK292440;AK299068;AK315830;AK315833;AMYH01018565;BC025995;BC111751;CH471080;DC403636;HQ651229;NM_001135721;NM_018068 AAH25995;AAI11752;ABZ92523;ADV17663;BAA91558;BAB55155;BAC81342;BAF83727;BAF85129;BAF98721;BAF98724;BAG61134;EAW63686;NP_001129193;NP_060538;Q8TC59 Hs.614809 1749159;1786730;2107509;5022651;5037552;5109281 D11S2921;D1S1425;D8S2279;PIWIL2__7002;SHGC-110848;SHGC-155028 CT80;FLJ10351;HILI;MGC133049;PIWIL1L;mili Hiwi-like;Miwi like;OTTHUMP00000123401;OTTHUMP00000224868;OTTHUMP00000224869;cancer/testis antigen 80;piwi-like 2;piwi-like protein 2;piwil2-like protein APPROVED protein-coding ENSG00000197181 17644 11434 610312 VALIDATED 1322218 PITRM1 pitrilysin metallopeptidase 1 10 10 p15.2 3169920 3205003 - 3179919 3215033 - 1580863;6480464 9733512;16849325;18029348;18951430;15489334;15164054;14702039;12477932;10470851;10360838;8889549;8125298;1036083;21621546;21750375;16344560;16385451;19196155;19724895;19851296;19962426;20198315;20877624;16341674;20811636;22939629;21890473;21906983;21490707 10531 B1APQ0;B1APQ1;C9JSL2;H0Y4F7;H0Y7L7;Q7L5Z7 AA132969;AB029027;ABBA01035230;AF061243;AK001183;AK002061;AK023476;AK225084;AK293788;AK294865;AK299464;AK303406;AK315117;AL117409;AL451164;AMYH01001989;BC001150;BC005025;BC045577;BC095422;BC111987;BC113369;BG720390;BI766649;BM737694;BX649017;CB529735;CD692197;CH471072;CR749279;DA331909;NM_001242307;NM_001242309;NM_014889 AAC67244;AAH01150;AAH05025;AAH95422;AAI11988;AAI13370;BAA83056;BAG50863;BAG51008;BAG51199;BAG57201;BAG57968;BAG61430;BAG64460;CAH18134;EAW86490;EAW86491;EAW86492;EAW86493;NP_001229236;NP_001229238;NP_055704;Q5JRX3 Hs.528300 1725583;1742213;1772865;2108357;2136126;2163119;5022649 D11S2875;G62086;GDB:193844;PFKP_8538;RH15729;SHGC-64843;T15877 KIAA1104;MGC138192;MGC141929;MP1;PreP;hMP1 OTTHUMP00000018976;PreP peptidasome;hPreP;metalloprotease 1 (pitrilysin family);pitrilysin metalloproteinase 1;presequence protease, mitochondrial protein-coding ENSG00000107959 17663 07142 VALIDATED 1315902 PIWIL1 piwi-like RNA-mediated gene silencing 1 This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 q24.33 129388567 129422826 + 130822433 130856877 + 6480464 12906857;14749716;19138993;19047128;18781170;17544373;16953229;16287078;15489334;14702039;16344560;12477932;12037681;11154219;9851978;21138738;20308539;19995427;20204292;20502058;20732906;20940137;21465557;22261620;21327579;22438986;22591718;21933617;21906983;22235650;21989785;22670175 9271 F5GWW4;F5GYG0;F5GZL9;F5H2F7;F5H3U6;F5H889;Q96J94 AB274731;ABBA01019808;ABBA01019809;ABBA01019810;AC127071;AF104260;AF264004;AF387507;AK093133;AMYH01004877;AMYH01004878;BC028581;BG718140;CH471054;DB072454;DB527532;HC007214;HC044523;NM_001190971;NM_004764 AAC97371;AAH28581;AAK69348;AAK92281;ADZ16040;BAC04068;BAF49084;CBH19412;CBH30591;EAW98509;EAW98510;EAW98511;NP_001177900;NP_004755;Q96J94 Hs.405659 1697532;2108371;5022708 PIWIL1;PIWIL1_8920;RH102272 HIWI;MIWI;PIWI OTTHUMP00000238660;piwi homolog;piwi-like protein 1 APPROVED protein-coding ENSG00000125207 9007 10409 605571 REVIEWED 1317476 PKD1L3 polycystic kidney disease 1-like 3 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] 16 16 16 q22.2 56277357 56347989 - 70520395 70591378 - 71963441 72033877 - 1580863;6480464 18951430;12782129;17353931;20379614;20406802;21883212;23212381 342372 Q7Z443 ABBA01016792;ABBA01016793;ABBA01016794;ABBA01016795;ABBA01016796;AC009127;AMYH01007794;AMYH01007795;AY164485;CH471166;JA738631;NG_032958;NM_181536 AAO32798;CCF76968;EAW59202;EAW59203;EAW59204;NP_853514;Q7Z443 Hs.675286 1648169;1671291;1676085;1739903;2119044;2164203 D16S2946;D19S846;NIB727;RH91143;SHGC-60641;SHGC-60677 PC1-like 3 protein;polycystic kidney disease protein 1-like 3;polycystin-1L3 APPROVED protein-coding 21716 07436 607895 REVIEWED 1352736 PKD1L1 polycystic kidney disease 1 like 1 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 p12.3 47912632 48087291 - 47780815 47954562 - 47814250 47988071 - 1580863;6480464 11863367;15203210;14702039;12975309;12411743;22841784;15146197;20379614 168507 H7C083;Q8TDX9 AACC02000093;AB061683;ABBA01041081;ABBA01041082;ABBA01041083;ABBA01041084;AC019066;AC069282;AI860869;AMYH01017230;AMYH01017231;AMYH01017232;AMYH01017233;AMYH01017234;AY358757;BF062285;CH236958;CH471128;CN283529;NM_138295 AAQ89117;BAB85807;EAW61003;EAW61004;EAW61005;EAW61006;EAW61007;NP_612152;Q8TDX9 Hs.195979 1717845;1731918;1786282;1790587;1856759;2107513;2132177;2169465 D7S1896;D7S808;GDB:1318188;GDB:1318575;HSC212_(7Gr476mb);PKD1L1__7005;RH121834;SHGC-148821 PRO19563 OTTHUMP00000208382;PC1-like 1 protein;polycystic kidney disease protein 1-like 1;polycystin-1L1 APPROVED protein-coding ENSG00000158683 18053 10154 609721 REVIEWED 736706 PKD1 polycystic kidney disease 1 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] 16 16 p13.3 2078712 2125900 - 2138711 2185899 - 1580867;1601399;1580863;6480464;7175279;7175280;7240710 12842373;8554072;21115670;23064367 17474147;9326937;10861291;7663510;19331813;19194729;19165178;19158373;19158352;18922886;18791038;18632682;18566106;18422703;18417541;18289888;18263686;18060739;17980165;17890878;17671167;17574468;17540339;17525154;17451746;17437318;17437137;17396115;17102641;17090781;17081983;16790429;16778383;16767665;16741147;16565258;16319969;16311606;16219758;16215947;16038619;16014040;15870383;15780076;15748886;15466861;15382167;15284290;15231748;15146197;15087466;15060061;15001556;14718571;14596619;12946628;12819240;12665801;12482949;12220456;12048202;12007403;11961010;11912216;11901144;11891195;11857740;11836366;11752017;11728985;11698076;11691639;11581269;11571556;11414761;11406351;11316854;11274246;11216660;11140688;11115377;11113628;11106764;11058904;11012875;10987650;10923040;10854095;10729710;10647901;10577909;10493829;10364515;10339594;10200984;9921908;9889186;9521593;9345095;9285784;9259200;9199561;9192675;9177229;9150733;8981910;8792818;8765322;8643665;8004675;20980620;7894481;7736581;7633406;7581371;2821260;1577479;18283041;17371830;10097141;15692563;22570239;20558538;20557879;9171830;10770959;21048031;15623513;15738054;20937836;20923779;20169078;20206434;20808796;20388565;19285554;19443633;19686598;19759016;19854836;20201926;20219615;20837139;20856870;20674666;21076887;19135240;21865467;21332816;22872635;15548533;21314639;21867693;22227580;22034641;21775626;21983717;18298949;22237240;22367170;23001567;21142036;21694639;22034075;22456092;22582392;22409330;22426824;22675472;23475492;22031115;17110338;23431742;19011111;22508176;23014991 5310 H3BQF4;H3BSE8;H3BSE9;H3BTE0;H3BTG3;H3BV77;I3L4N0;P98161 AB209025;AB209675;ABBA01030273;ABBA01030274;ABBA01030275;AC005600;AC009065;AC093513;AK309422;AMYH01007047;AMYH01007048;AMYH01007049;AMYH01007050;AMYH01007051;AMYH01007052;CH471112;CN268814;L33243;L39891;L43619;NG_008617;NM_000296;NM_001009944;U24497 AAB59488;AAC34211;AAC37576;AAC41765;AAC50128;BAD92262;BAD92912;EAW85553;EAW85554;EAW85555;NP_000287;NP_001009944;P98161 Hs.75813 1657305;1728949;1743957;1745605;1745797;1775147;2111492;2112836;2116992;2131219;2157424;5023541;5094678 D10Bir17;D16S3252;D16S3361;D16S3394;GDB:378419;GDB:626063;GDB:641995;PMC356914P1;PMC356914P2;RH68414;SHGC-30026;STS-L48546;STS-U24497 PBP;Pc-1;TRPP1 OTTHUMP00000208669;OTTHUMP00000208670;autosomal dominant polycystic kidney disease 1 protein;polycystic kidney disease 1 homolog;polycystic kidney disease-associated protein;polycystin 1;polycystin-1;transient receptor potential cation channel, subfamily P, member 1 APPROVED protein-coding ENSG00000008710 9008 03203 173900;601313 REVIEWED 1349855 PKD1P2 polycystic kidney disease 1 (autosomal dominant) pseudogene 2 16 16 p13.11 16357482 16378965 + 16450274 16471364 + 11414761;10493829;8004675 283955 AC138969;AMYH01007183;NG_002795 HG2 pseudo 30066 INFERRED 1346369 PKD1P3 polycystic kidney disease 1 (autosomal dominant) pseudogene 3 16 16 p13.11 14912735 14937166 + 15005334 15029565 + 11414761;10493829;8004675 339039 AC138932;AF320593;AMYH01007182;NG_002796 HG3 pseudo 30067 INFERRED 1344535 PKD1P4 polycystic kidney disease 1 (autosomal dominant) pseudogene 4 16 16 p13.12 18335658 18353934 - 18428257 18446140 - 11414761;10493829;8004675 353512 AC126755;AF320594;NG_002800 HG4 pseudo 30068 INFERRED 1353134 PKD1P5 polycystic kidney disease 1 (autosomal dominant) pseudogene 5 16 16 p12.3 18375779 18403472 - 18468378 18495871 - 11414761;10493829;8004675 348156 ABBA01008627;ABBA01008628;AC126755;AMYH01007183;NG_002798 HG5 pseudo 30069 INFERRED 1347986 PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 16 16 p13.13 15126497 15155983 - 15219096 15248481 - 11414761;10493829;8004675 353511 AC139256;AMYH01007182;NG_002799 HG6 pseudo 30070 INFERRED 1343423 PKD1L2 polycystic kidney disease 1-like 2 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 16 16 16 q23.2 65432531 65551310 - 79691985 79811476 - 81134484 81253975 - 1580863;6480464 18951430;16344560;15203210;14702039;12782129;12477932;11572484;19578180;19844255 114780 H0YEQ7;Q7Z442 AB067466;ABBA01016973;ABBA01016974;ABBA01016975;ABBA01016976;ABBA01016977;ABBA01016978;ABBA01016979;ABBA01016980;ABBA01016981;ABBA01016982;ABBA01016983;ABBA01016984;ABBA01016985;AC092718;AC131888;AK098052;AK127266;AK131378;AL832135;AMYH01007848;AW082870;AY164483;AY371495;BC004562;BC014120;BC014157;CH471114;CR627341;DA326413;DB306292;HY047655;NG_033236;NM_001076780;NM_001278423;NM_001278425;NM_052892 AAH04562;AAH14120;AAH14157;AAI72587;AAO32796;AAQ73173;ADZ15353;BAB67772;BAC05222;BAC86906;BAD18529;CAH10372;EAW95539;EAW95540;EAW95541;EAW95542;EAW95544;NP_001070248;NP_001265352;NP_001265354;NP_443124;Q7Z442 Hs.413525 1765473;1766613;5015861;5015961;5020881;5022200;5022463;5022578;5022651;5109281;7185938 D10S16;D11S2921;D15S1477;D1S1423;D1S1425;D3S1673;L17709;L18426;SHGC-148958;SHGC-149916 DKFZp686J19100;FLJ45333;PC1L2 OTTHUMP00000231957;OTTHUMP00000231959;OTTHUMP00000231961;PC1-like 2 protein;polycystic kidney disease protein 1-like 2;polycystin-1L2 APPROVED protein-coding ENSG00000166473;ENSG00000269323 21715 06990 607894 REVIEWED 1322245 PIWIL4 piwi-like RNA-mediated gene silencing 4 PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] 11 11 11 q21 91588283 91642396 + 93940182 93994234 + 94300474 94354587 + 1580863;6480464 18846501;17544373;16344560;15489334;14749716;14702039;12906857;12477932;12414724;20379614;20146808;20721975;20940137;22748119;22483988;21890473;22318606 143689 F5GX26;F5H116;Q7Z3Z4 AB079366;ABBA01040025;ABBA01040026;AF086344;AK093475;AK096837;AK293616;AMYH01003965;AP000943;BC031060;CH471065;CR749642;DB091271;NM_152431 AAH31060;ABM82166;ABM85351;BAC04179;BAC04873;BAC81341;BAG57076;CAH18436;EAW66940;EAW66941;NP_689644;Q7Z3Z4 Hs.660188 1680423;1737851;2123350;5023469 D11S3455;G02226;RH94119;SHGC-57612 DKFZp686P01248;FLJ36156;HIWI2;MIWI2 OTTHUMP00000236923;piwi-like 4;piwi-like protein 4 APPROVED protein-coding ENSG00000134627 18444 11435 610315 VALIDATED 1351087 PKD3 polycystic kidney disease 3 (autosomal dominant) 7240710 1974020 5312 9013 1353522 PJA1 praja ring finger 1, E3 ubiquitin protein ligase This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked mental retardation disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q13.1 68733493 68738277 - 68297422 68302065 - 68380581 68385365 - 1580863;6480464 16344560;18029348;14702039;12477932;15772651;15489334;12036302;11959851;10722742;9393880;16169070;22544753;16096365;16247473;17941886;19690564;21513699;16196087;21461837;20864041;21903422;20972266;21139048;18729074;22053931;22626734 64219 K7EPI8;K7EPW5;Q8NG27 ABBA01067431;AF262024;AF264620;AK021892;AK096611;AK226171;AK290543;AK293266;AK294632;AL157699;AMYH01022521;BC039149;BC048323;BC058327;BC075803;BC105051;BC105053;BC113035;BM127146;CH471132;DA778001;DC349747;NG_021258;NM_001032396;NM_022368;NM_145119 AAH48323;AAH75803;AAI05052;AAI05054;AAI13036;AAM53039;AAM53040;ABZ92524;BAB13928;BAF83232;BAG53338;BAG56796;BAG57811;EAX05367;EAX05368;EAX05369;NP_001027568;NP_071763;NP_660095;Q8NG27 Hs.522679 2117979;2142496;5106112 A004I18;PJA1;WI-14304 PRAJA1;RNF70 E3 ubiquitin-protein ligase Praja-1;OTTHUMP00000023457;OTTHUMP00000023458;OTTHUMP00000158770;OTTHUMP00000158771;RING finger protein 70;praja 1 APPROVED protein-coding ENSG00000181191 16648 02335 300420 REVIEWED 1348862 PKD1P1 polycystic kidney disease 1 (autosomal dominant) pseudogene 1 16 16 p13.11 16311390 16335653 + 16411466 16444465 + 6480464 11414761;10493829;8004675;11042152;12477932;15489334 339044 Q6ZVJ0;Q86VD5 AC136619;AC137803;AC138969;AF229069;AK124516;AK126798;AK294825;AK298381;AK304604;AK304826;AMYH01007226;AMYH01007227;AMYH01007228;AMYH01007229;AMYH01007230;AMYH01007231;AMYH01007232;AMYH01007233;AMYH01007234;AMYH01007235;AMYH01007236;AMYH01007237;AMYH01007238;AMYH01007239;AMYH01007240;AMYH01007241;AMYH01007242;AMYH01007243;AMYH01007244;BC008178;BC010188;BC039707;BC046145;NR_036447;XR_172152 AAF82267;AAH39707;AAH46145;BAC85871;BAC86699;BAG57937;BAG60617;BAG65390;BAG65574;Q86VD5 Hs.636569;Hs.743246 5124491 Cda0uf06 FLJ00322;FLJ42525;FLJ44848;FLJ56775;FLJ56871;FLJ59085;HG1;KIAA0220;MGC47688 pseudo 30065 VALIDATED 733552 PJA2 praja ring finger 2, E3 ubiquitin protein ligase 5 5 5 q21.3 104609971 104684311 - 108698309 108773574 - 108670410 108745675 - 6480464 21145461;17081983;15489334;15342556;12477932;12036302;11959851;9455477;9393880;8889548;7623148;19615732;19690564;22948757;16196087;21906983;20972266;21139048;21890473;18775313;18781797;21423175;21987572;19322201;22505724 9867 O43164 AB007898;ABBA01069090;ABBA01069091;ABBA01069092;AC008467;AC010625;AK291759;AMYH01015542;AMYH01015543;AMYH01015544;AMYH01015545;BC030826;BM469517;BM681899;BP301854;BQ228553;CH471086;CR749579;NM_014819 AAH30826;BAA23710;BAF84448;CAH18371;EAW49050;EAW49051;NP_055634;O43164 Hs.483036;Hs.592564 1739065;1854378;2159980;2172085;5017712 1690;D5S1782;PJA2;RH47663;WI-13465 KIAA0438;Neurodap1;RNF131 E3 ubiquitin-protein ligase Praja-2;OTTHUMP00000158944;praja 2, RING-H2 motif containing;praja2;protein carrying the ring-h2 sequence motif;ring finger protein 131 APPROVED protein-coding ENSG00000198961 17481 11436 VALIDATED 1314779 PKD2L1 polycystic kidney disease 2-like 1 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 q24 102037893 102080233 - 102047903 102090243 - 1580863;6480464 10602361;10517637;12809519;9878261;17944866;16537653;15489334;12477932;11959145;11805156;11698076;10602992;20408813;10097141;9748274;12525172;16385451;20406802;22174419;21886157;22359512;22193359;23251661;23362303;22794107 9033 E9PRD1;H0YDN7;H0YET4;Q1L4F0;Q9P0L9 ABBA01063228;AF053316;AF073481;AF092170;AF094827;AF153459;AF153474;AL139819;AMYH01002997;AMYH01002998;BC025665;CH471066;DQ084244;NM_001253837;NM_016112 AAD08695;AAD16101;AAD41638;AAD51859;AAF28108;AAH25665;AAZ31363;ABM82480;ABM85667;EAW49833;EAW49834;NP_001240766;NP_057196;Q9P0L9 Hs.159241 1335109;7183757 D10S603 PCL;PKD2L;PKDL;TRPP3 OTTHUMP00000020283;polycystic kidney disease (polycystin)-like;polycystic kidney disease 2-like 1 protein;polycystin-2 homolog;polycystin-2L1;polycystin-L;polycystin-L1;transient receptor potential cation channel, subfamily P, member 3 APPROVED protein-coding ENSG00000107593 9011 16063 604532 REVIEWED 1353787 PKD2 polycystic kidney disease 2 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011] 4 4 q22.1 89147844 89217953 + 88928799 88998931 + 1580867;1580868;1580863;6480464;7175273;7175279;7175293;7240710 12842373;12454224;22863349;21115670;12089381 20408813;22609445;20980620;21490950;8650545;10760273;9171830;15337773;10770959;19265036;19194729;19193631;19158373;19158352;19098310;18755075;18754774;18727244;18725310;18721488;18701462;18694932;18664456;18552856;18417208;18273441;18256307;18048422;17303584;17292589;17283055;17217069;17204494;17081983;17008358;16551655;16319969;16311606;16278216;16223735;16215947;16192288;16038619;16025301;15843396;15780076;15717641;15692563;15489334;15382167;15300626;15194699;15130895;15123714;15001556;14993477;12946628;12707387;12527301;12525172;12477932;11991947;11901144;11891195;11854751;11698076;11438989;11252306;11076863;10913159;10835625;10541293;10411676;10097141;9949210;9573526;9529618;9402976;9326320;9286709;9192675;9175744;9110174;8954772;8619474;8298643;21474446;20439752;19913121;20089835;20628086;19821056;20682256;21044049;20934246;20206434;20557879;12809519;19443633;19491093;19546223;19569180;19783969;19801576;19812035;19850920;19854836;19936001;20168298;20219615;20361981;20379614;20833712;20881056;21727210;21719175;21527521;21622852;22034641;21983717;22114106;22367170;21906983;22797727;22204817;22474326;22456092;22797919;23212942;22508176;22802962;23064961 5311 B4DFN3;Q13563;Q9UEU6 ABBA01063543;AC084732;AF004873;AF054992;AF113693;AK293461;AK294173;AK294589;AMYH01014382;AW600307;BC112261;BC112263;BQ574566;CH471057;NG_008604;NM_000297;U50928;U56813 AAC09351;AAC16004;AAC50520;AAC50933;AAI11455;AAI12262;AAI12264;BAG56956;BAG57494;BAH11820;EAX06011;NP_000288;Q13563 Hs.181272 1665673;1720817;1728677;1749873;1764667;1769018;1773424;1774829;1797988;2115786;2121357;2149464;2164233 D4S2796;G59384;G63630;PKD2_477;SHGC-111600;SHGC-148257;SHGC-24101;SHGC-50276;SHGC-67224;SHGC-67606;SHGC-67908;SHGC-8591;STS-R48232 APKD2;MGC138466;MGC138468;PC2;PKD4;Pc-2;TRPP2 OTTHUMP00000161169;R48321;autosomal dominant polycystic kidney disease type II protein;polycystic kidney disease 2 protein;polycystin-2;polycystwin;transient receptor potential cation channel, subfamily P, member 2 APPROVED protein-coding ENSG00000118762 9009 01437 173910;613095 REVIEWED 1321074 PKD2L2 polycystic kidney disease 2-like 2 5 5 5 q31 133347422 133398422 + 137253024 137304055 + 137225125 137276156 + 1580863;6480464 10602361;12477932;11959145;11698076;10756092 27039 D6RBX8;D6RF71;Q9NZM6 ABBA01068702;AC106753;AC106791;AF118125;AF182034;AK301924;AMYH01015639;BC034619;BC038714;BC044581;BG719682;BG721989;CH471062;NM_001258448;NM_001258449;NM_014386 AAD46478;AAF65622;AAH44581;BAG63344;EAW62174;EAW62175;EAW62176;NP_001245377;NP_001245378;NP_055201;Q9NZM6 Hs.716884 1699148;1699486;2114522;2127533;2185610;5016781 RH103150;RH103336;RH67872;SHGC-67307;STS-H99220;STS-H99814 TRPP5 OTTHUMP00000223500;OTTHUMP00000223501;OTTHUMP00000223504;OTTHUMP00000227672;polycystic kidney disease 2-like 2 protein;polycystin-2L2;polycystin-L2 protein-coding ENSG00000078795 9012 05238 604669 VALIDATED 1318266 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008] 6 6 p12.2 51588104 52060382 - 51480145 51952423 - 70439;1642441;1642440;6480464;7240710 11919560;14983006;15067314 16243292;19158352;19021639;17903305;17669261;17593545;17470460;17283055;17160262;16897190;16677362;16199545;15647252;15458427;15108281;15108277;14702039;12874454;12846734;12506140;12191969;12079288;11898128;9503014;7920664;19292732;19524688;19557197;19914852;19923420;19940839;19943112;20379614;20413436;20575693;20554582;20301501;21274727;21300060;14978161;21945273;22882926 5314 P08F94 ABBA01050561;ABBA01050562;ABBA01050563;ABBA01050564;ABBA01050565;ABBA01050566;ABBA01050567;ABBA01050568;ABBA01050569;ABBA01050570;AF480064;AK091971;AK128031;AL121946;AL157774;AL355997;AL391221;AL590391;AMYH01016346;AMYH01016347;AMYH01016348;AMYH01016349;AY074797;AY092083;AY129465;BX538137;BX647896;CH471081;NG_008753;NM_138694;NM_170724 AAL74290;AAM18186;AAM44232;AAM93492;BAC03782;EAX04359;EAX04360;NP_619639;NP_733842;P08F94 Hs.662050 1341789;1655663;1661262;1662209;1665651;1703688;1711892;1713113;1714405;1716679;1727087;1730012;1732707;1749035;1764621;1781114;2113250;2113252;2129164;2150597;2168180 D6S1344;D6S1714;D6S1956;D6S2010;D6S2390;D6S2391;D6S245;G49556;G62945;RH119735;RH120344;RH121598;RH16344;RH37475;RH45221;RH46288;SGC35102;SHGC-110670;SHGC-148211;SHGC-78840;stdJ136A8T7 ARPKD;DKFZp686C01112;FCYT;FLJ46150;TIGM1 OTTHUMP00000016598;OTTHUMP00000016599;TIG multiple domains 1;fibrocystin;polycystic kidney and hepatic disease 1 protein;polyductin;tigmin APPROVED protein-coding ENSG00000170927 9016 05987 263200;606702 REVIEWED 1315287 PKDREJ polycystin (PKD) family receptor for egg jelly This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008] 22 22 22 q13.31 30558945 30566604 - 45030224 45037883 - 46651560 46659219 - 1580863;6480464 9949214;17564962;12477932;11698076;10602361;10591208;22889411 10343 Q9NTG1 ABBA01010443;ABBA01010444;AF116458;AL031034;AL078611;AL137288;AMYH01012857;AMYH01012858;BC027601;CH471138;EF517278;NM_006071;Z93024 AAD18021;ABR22603;CAB70680;EAW73411;NP_006062;Q9NTG1 Hs.241383 2110655;2150388 AL022480;PKDREJ__7006 OTTHUMP00000197569;PKD and REJ homolog;polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like;polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like;polycystic kidney disease and receptor for egg jelly-related protein APPROVED protein-coding ENSG00000130943 9015 05239 604670 REVIEWED 1321293 PKHD1L1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 8 8 8 q23 106562401 106730887 + 110443882 110612676 + 110374706 110543500 + 6480464 12620974;12477932;11329013;20379614;23251661 93035 H0YF65;Q86WI1 ABBA01037712;ABBA01037713;ABBA01037714;AC021001;AC021237;AK131338;AL133640;AMYH01018958;AP000427;AY219181;BC093096;BG186508;CH471060;NM_177531 AAH93096;AAO60072;CAB63761;EAW91931;NP_803875;Q86WI1 Hs.170128 1341590;1654672;1694630;1742999;1786612;2137314 D8S1122;D8S1984;G43355;GDB:229319;RH65855;SHGC-144268 DKFZp586C1021;PKHDL1 OTTHUMP00000227951;PKHD1-like protein 1;fibrocystin L;fibrocystin-L;polycystic kidney and hepatic disease 1-like protein 1;polycystic kidney and hepatic disease-like 1 protein-coding ENSG00000205038 20313 09703 607843 VALIDATED 6779036 PKMP1 pyruvate kinase, muscle pseudogene 1 1 p13.2 115078592 115080077 + 643586 ABBA01068463;AL390241;AMYH01000966;NG_022800 1692046 AL034004 pseudo 44243 INFERRED 6778500 PKMP2 pyruvate kinase, muscle pseudogene 2 X q12 65717617 65719263 + 402408 ABBA01067130;AL353136;AMYH01022510;NG_022667 pseudo 44244 INFERRED 6777927 PKMP3 pyruvate kinase, muscle pseudogene 3 6 86369584 86370351 - 100419758 ABBA01040477;AL355615;AMYH01016480;NG_025841 1852936;2146156;2150222 A008X26;G29186;RH46815 pseudo 44245 INFERRED 6783200 PKMP5 pyruvate kinase, muscle pseudogene 5 6 p25.1 5972621 5974239 + 442156 ABBA01022013;AL136307;AMYH01016055;NG_022342 pseudo 44247 INFERRED 1605897 PKDCC protein kinase domain containing, cytoplasmic 2 2 2 p21 42114692 42125199 + 42129257 42139144 + 42275161 42285668 + 6480464 16344560;16341674;15489334;12477932;12471243;8889548;19097194;19465597;19961619;20379614;22504420 91461 F8WB71;Q504Y2 ABBA01075056;ABBA01075057;ABBA01075058;AC013480;AK311155;AMYH01010282;BC007901;BC062988;BC094697;BC110513;BC110514;BM738316;BQ013425;CF131963;CH471053;DB231841;DB457034;NM_138370 AAH07901;AAH62988;AAH94697;AAI10514;AAI10515;EAX00325;EAX00326;NP_612379;Q504Y2 Hs.408542 1649995;1778359 A004O39;WI-15430 FLJ18197;MGC125960;SGK493;Vlk OTTHUMP00000201435;protein kinase domain containing, cytoplasmic homolog;protein kinase domain-containing protein, cytoplasmic;protein kinase-like protein SgK493;sugen kinase 493;vertebrate lonesome kinase APPROVED protein-coding ENSG00000162878 25123 18707 614150 VALIDATED 731267 PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 8 8 q21.12 79590891 79678040 + 79428336 79517502 + 6480464 1710219;15489334;12798691;12477932;11978406;10026146;8805303;8027074;7905001;7836431;3456605;2989819;2434500;1862343;1770951;21833088;20485264;20451256;22219177;22504420 5569 P61925 AA644101;ABBA01004086;AC068700;AF234641;AK311857;AMYH01018813;BC022265;BI597731;BX419914;CH471068;CR457052;CR744438;DB480496;DR763580;NM_006823;NM_181839;S76965 AAB21141;AAF40206;AAH22265;ABM84135;ABM87536;BAG34798;CAG33333;EAW87055;EAW87056;EAW87057;EAW87058;NP_006814;NP_862822;P61925 Hs.433700;Hs.732129 1655753;1735760;1735780;1771978;2109661;2149640;2159959;2175488;2177812;2180395 D8S1370E;D8S1392E;D8S1600;D8S2037;G15931;G32142;PKIA_3847;RH18448;RH70239;T16091 PRKACN1 OTTHUMP00000227039;OTTHUMP00000227040;PKI-alpha;cAMP-dependent protein kinase inhibitor alpha;cAMP-dependent protein kinase inhibitor, muscle/brain isoform APPROVED protein-coding ENSG00000171033 9017 05828 606059 REVIEWED 1350390 PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q12-q13.1 39869083 39956320 + 42593850 42681092 + 43160436 43247678 + 1580863;6480464 9218452;17353931;16870489;12477932;11978406;11780052;11742798;11549316;10880337;19913121;20628086;15146197 11142 Q549H9;Q5H937;Q9Y2B9 AA463287;AB019517;ABBA01052643;ABBA01052644;ABBA01052645;AF115966;AF182032;AI140360;AK309209;AK312048;AMYH01011933;AMYH01011934;BC104256;BC104257;BF569812;BG388302;BG717090;BI461377;BQ010165;BU161358;CD244921;CH471077;CN354542;DN994035;NM_001281444;NM_001281445;NM_007066;NM_181804;NM_181805;Z97053 AAD55445;AAI04257;AAI04258;AAP97238;BAA77336;BAG34984;EAW75908;EAW75909;EAW75910;EAW75911;EAW75912;EAW75913;EAW75914;NP_001268373;NP_001268374;NP_008997;NP_861520;NP_861521;Q9Y2B9 Hs.472831 1342227;1643850;1666238;1700040;1742365;2109663;2114605 D20S1067;D20S824;D20S911;GDB:196484;PKIG_9227;RH103632;Z94608 MGC126458;MGC126459;PKI-gamma OTTHUMP00000031722;OTTHUMP00000031723;OTTHUMP00000063215;OTTHUMP00000063216;OTTHUMP00000063217;OTTHUMP00000063219;PKI-gamma;cAMP-dependent protein kinase inhibitor gamma APPROVED protein-coding ENSG00000168734 9019 05379 604932 REVIEWED 736855 PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 6 q22.31 123537370 123791807 + 122834761 123089217 + 122793062 123047518 + 1580863;6480464 19035091;15489334;14574404;12477932;12061725;11978406;10880337;7684369;2052616;12748276;19483721;21906983;22318606;15342556;8889548;21988832;23224602 5570 Q5T0Z6;Q9C010 ABBA01025982;ABBA01025983;ABBA01025984;AF087873;AF225513;AJ420562;AK074397;AK315151;AL512283;AL513481;AMYH01016636;BC036011;BC093027;BG507119;BG572417;BM802552;BM969901;BP260889;BP262756;BU753807;CH471051;CR749456;NM_001270393;NM_001270394;NM_001270395;NM_032471;NM_181794;NM_181795;Z99129 AAH36011;AAH93027;AAK00638;AAM10501;ADR82685;BAG37599;EAW48168;EAW48169;EAW48170;EAW48171;NP_001257322;NP_001257323;NP_001257324;NP_115860;NP_861459;NP_861460;Q9C010 Hs.741340;Hs.744965 1647249;1654599;1669262;1785866;1936200;2080848;2108373;5014051;5015404;5015619;5016478;5020946;5022651;5024413;5037552;5118444 AL020976;AL031510;D11S2921;D11S3114;D11S3316;D8S2278;D8S2279;GDB:434012;L17705;L17877;L17971;PKIB_8565;REN111632;REN38937;SHGC-112114;WI-11930 FLJ23817;PRKACN2 OTTHUMP00000017114;OTTHUMP00000017115;OTTHUMP00000017116;OTTHUMP00000017117;PKI-beta;cAMP-dependent protein kinase inhibitor 2;cAMP-dependent protein kinase inhibitor beta APPROVED protein-coding ENSG00000135549 9018 06075 606914 REVIEWED 737364 PKLR pyruvate kinase, liver and RBC The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q21 153526254 153537835 - 155259084 155271225 - 1625581;1625591;1625588;1625589;1625583;1625587;1300048;2302851;2302790;6480464;6484113;6907045;7240710 14766002;12417155;17013507;16900249;12958186;8605225;4353083;4273555 11328279;10772876;10087985;9886305;9827908;9522120;9482576;9090535;9075576;9057665;8807089;8664896;8483951;8481523;8476433;8180378;8161798;8125298;7706479;3566732;3378452;2018831;1896471;1602151;1536957;1445295;8524282;3126495;19111066;19085939;18996102;18840520;18759866;18726918;18698090;18683378;18460648;18420493;18269685;17977029;17574881;17360088;17081983;16540430;16289162;15727904;15491302;15489334;12477932;12393511;12196482;12107439;12006652;11960989;11916152;11698298;11668614;11459427;19320443;19372549;19615732;19655166;19743919;20602615;20682687;20978194;17192395;21700219;21784452;18624398;20849852;21906983;16236267;22001757;21833022;22222284;19805454;20639865;21890473;21963094;21987572;23000965;23082140;23263486;23270483;21853274;22505724 5313 F8W6W2;P30613 AB015983;ABBA01016711;AK225947;AK298399;AL353760;AL713999;AMYH01001427;AY316591;BC025737;BF110802;CH471121;D13243;M15465;NG_011677;NM_000298;NM_181871;S59798;S59799;S59800;S59801;S59803;S59804;S59806;S59807;S59809;S59810;S59811;S59812;S59813;S59814;S59815;S59817;S59819;S59820;S59821;S59822;S59823;S59829;S59832;S60712;U47654;Z18922 AAA60104;AAA92535;AAA92536;AAB26262;AAH25737;AAP69527;ABW03679;BAA02515;BAA31706;BAG60632;EAW53079;EAW53080;NP_000289;NP_870986;P30613 Hs.95990 1339369;1655907;1743675;2107515;2127232;2185736 D1S1153;D1S3522;GDB:366638;PKLR__7008;RH10977;RH16325 PK1;PKL;PKR;PKRL;RPK OTTHUMP00000034068;OTTHUMP00000034069;R-type/L-type pyruvate kinase;pyruvate kinase 1;pyruvate kinase PKLR;pyruvate kinase isozyme R/L;pyruvate kinase isozymes L/R;pyruvate kinase isozymes R/L;pyruvate kinase type L;pyruvate kinase, liver and blood cell;red cell/liver pyruvate kinase 1643243;2314803;2315058;2316879 BW132_H;GLUCO119_H;GLUCO133_H;GLUCO304_H APPROVED protein-coding ENSG00000143627 9020 11841 102900;266200;609712 REVIEWED 1603703 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 16 16 p13.3 2962793 2970475 - 3022792 3030540 - 6480464;6907045 10373560;9001210;12738781;18378775;17192257;16565220;16476973;15616553;15175024;14702039;12606722;11802161;11326318;10504341;9499405;9268380;12477932;16344560;20694148;12912980;19389623;22189141;20360068;21906983;23241949;22505724 9088 A6NHV6;B4DZM6;I3L136;I3L1H7;I3L2S4;I3L3P0;I3L4K3;I3L4Y0;Q0IJ49;Q8TCM9 ABBA01026723;AC004233;AC004235;AF549406;AK097642;AK098452;AK294379;AK301926;AK303005;AK309964;AMYH01007087;BC121161;BC121162;BC130011;BC153823;BG530406;BQ017689;CH471112;DB009060;DB111506;NM_001258450;NM_001258451;NM_004203;NM_182687;U56816 AAC04477;AAC04478;AAC50949;AAI21162;AAI21163;AAI30012;AAI60025;AAN40703;BAG53500;BAG57637;BAG63346;BAG64138;EAW85439;EAW85440;NP_001245379;NP_001245380;NP_004194;NP_872629;Q99640 Hs.732385 5125076 RH80840 DKFZp547K1610;FLJ20093;MYT1 OTTHUMP00000159225;membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase;myt1 kinase APPROVED protein-coding ENSG00000127564 29650 03920 602474 REVIEWED 1312771 PKNOX1 PBX/knotted 1 homeobox 1 21 21 q22.3 43267712 43326757 + 44394643 44453688 + 1580863;6480464 9479508;18093541;15468914;12871956;12771203;12732210;12477932;11342305;10906782;10830953;10471746;10373562;10215622;9582372;9482740;9482739;9366523;9143494;9079695;8889549;8125298;7729685;19505873;11069920;19260141;20106730;20211142;21130836;15138251;21203543;16780588;21832049;21715654;22185299;22347417;20125193 5316 E7EPN6;H0YKV5;H0YLD9;H0YM69;H0YMX0;P55347;Q6PKH2;Q96I87 AA133342;ABBA01004517;AK222892;AK294794;AMYH01012273;AMYH01012274;AMYH01012275;AP001630;AP001748;AY142115;AY196965;AY566249;BC000735;BC007746;CH471079;NM_004571;U68727;Y13613 AAC51243;AAH00735;AAH07746;AAN34940;AAO45825;AAT70235;ABM83635;ABM86887;BAA95533;BAD96612;BAG57916;CAA73934;EAX09517;EAX09518;NP_004562;P55347 Hs.431043 1650158;1670660;1695638;1695640;1797990;1855289;2164622;5014740 D17S610;D21S1938;G48510;G48511;PKNOX1_2194;SHGC-52028;STS-T84037;WI-16888 PREP1;pkonx1c OTTHUMP00000109414;PBX/knotted homeobox 1;Pbx regulating protein-1;homeobox protein PKNOX1;homeobox protein PREP-1;human homeobox-containing protein protein-coding ENSG00000160199 9022 03653 602100 VALIDATED 1314240 PKN3 protein kinase N3 9 9 9 q34.11 102115606 102133985 + 130504623 130523020 + 131464802 131483199 + 6480464 11432776;10441506;17192257;15489334;15282551;15164053;12477932;11259428;22939629;23568457;21754995;21987572;21139048;21963094;22609186;23251661 29941 Q05BU1;Q6P5Z2 AB019692;ABBA01043897;ABBA01043898;AI741632;AL441992;AMYH01021751;BC023327;BC032794;BC041581;BC062558;BQ009753;BU854923;CB987960;CH471090;NM_013355 AAH32794;AAH62558;ACE86428;ACE87103;BAA85625;EAW87824;EAW87825;NP_037487;Q6P5Z2 Hs.300485 1655580;2109665 PKN3_9611;STS-N29855 RP11-545E17.1 OTTHUMP00000022293;protein kinase PKN-beta;protein-kinase C-related kinase 3;serine/threonine-protein kinase N3 protein-coding ENSG00000160447 17999 17856 610714 VALIDATED 1342758 PKP2P1 plakophilin 2 pseudogene 1 12 12 12 p13 8203694 8208245 + 6457023 6461607 + 6586805 6591355 + 10828611 82500 ABBA01017642;AC005840;AC006064;AMYH01004203;NG_000936 1675487 RH80926 pseudo 13413 INFERRED 1352598 PKN2 protein kinase N2 1 1 p22.2 88922510 89074526 + 89149922 89301938 + 1580863;6480464 9092545;7851406;19380854;18978678;18835241;18443202;18437351;17632197;17332740;17081983;16964243;16710414;16344560;15822905;15302935;14718574;14702039;12477932;11356191;10926925;10818102;10753910;10026169;9368003;9121475;8910519;7988719;11781095;10764742;9446575;15797222;12626518;22511787;19913121;20628086;20974804;12640115;19615732;19892838;20188095;20379614;23383273;21754995;15717329;21900206;19953087;21139048;21906983;18239623;19322201;22001757;22490666;20881960;21963094;22699663;22939624 5586 B1AL79;H0Y429;H0Y5V5;Q16513 ABBA01045594;ABBA01045595;ABBA01045596;AC119426;AF118089;AK023692;AK298595;AK300304;AK301066;AL136381;AMYH01000776;AMYH01000777;BC006993;BC029749;BC038832;BC046146;BC062620;BC125199;CH471097;DA451427;NM_006256;S75548;U33052 AAB33346;AAC50208;AAF22033;AAH29749;AAH62620;AAI25200;BAG60783;BAG62057;BAG62673;EAW73161;EAW73162;EAW73163;EAW73164;EAW73165;NP_006247;Q16513 Hs.440833 1668786;1693514;1771368;1853761;2173775;2177182;2179106;2219562;5093980 A010A04;AL009423;G33036;PRKCL2__5581;RH47567;SHGC-58543;SHGC-75090;SHGC-75113;SHGC-75118 MGC150606;MGC71074;PAK2;PRK2;PRKCL2;PRO2042;Pak-2 OTTHUMP00000011760;PKN gamma;cardiolipin-activated protein kinase Pak2;protein kinase C-like 2;protein-kinase C-related kinase 2;serine/threonine-protein kinase N2 protein-coding ENSG00000065243 9406 03972 602549 VALIDATED 737501 PKM pyruvate kinase, muscle This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011] 15 15 q22 70278424 70310738 - 72491370 72523727 - 1580863;1300048;2302804;2302790;6480464;6484113 8255543;4273555 22231432;22509023;12620389;15231747;17220478;17620599;2040271;2813362;2854097;11256614;19401544;19097497;18996102;18789002;18519040;18464261;18394773;18337815;18298799;17414054;17406361;17081983;17011640;16964243;16132722;15996096;15952740;15862967;15592455;15489334;15294093;15128873;14702039;12820337;12820320;12820312;12665801;12477932;11960989;11895152;11162730;9657767;9466265;9329624;8895530;8125298;6930359;3102533;2931560;2838416;2174328;2169315;18468620;22736014;22901803;22236875;23212076;23398456;23537643;20602615;21325052;15967462;18029348;19759913;20977946;20592362;20847263;16055720;16226712;20667897;20721957;20082317;12650930;16169070;17308100;18191611;19265196;19734428;19754967;19820423;19920249;19920251;20010808;20133837;20304929;20332442;20857498;20962042;21620138;16344560;22807066;18303054;20391533;22824010;23106098;23383273;16335966;23423437;21252943;21725354;22306293;23123196;23576436;21832049;22863883;22939629;23178880;16196087;17558393;19135240;20000738;21800051;21900206;22052977;22079093;15161933;19596686;20360068;20458337;21081666;21139048;21890473;21906983;22334075;17623298;20639865;21987572;22056988;22118674;16263121;19738201;19805454;20972266;21565611;21963094;21988832;22053931;22304920;22623428;23000965;23071357;22536838;22140559;22271574;16009940;21044950;22627140;22044881;12565818;21145461;21319273;22465421;16289162;21853274;22190034;22505724;22944692;23064226;23086999;23130662;23267074;11487543;23155487;23402259;23428871;23455922;23463506;23530218;23703321;22864959 5315 B4DNK4;H3BN34;H3BQ34;H3BQZ3;H3BT25;H3BTJ2;H3BTN5;H3BU13;H3BUW1;Q504U3;Q96E76 ABBA01038734;AC020779;AF025439;AF157692;AF185280;AF242584;AK092369;AK222927;AK294315;AK297951;AK299413;AK300800;AK307855;AK308264;AK309781;AK312253;AMYH01006760;AMYH01006761;AY352517;BC000481;BC007640;BC007952;BC012811;BC019265;BC023328;BC023592;BC035198;BC035487;BC094767;BC096823;BG490968;CH471082;DA382029;DC376054;M23725;M26252;NM_001206796;NM_001206797;NM_001206798;NM_001206799;NM_002654;NM_182470;NM_182471;X56494;Z36831 AAA36449;AAA36672;AAC39559;AAD47248;AAF01766;AAF65764;AAH00481;AAH07640;AAH07952;AAH12811;AAH19265;AAH35198;AAH94767;AAQ15274;ABM83665;ABW03543;ACE86928;ACE87615;BAD96647;BAG35185;BAG52542;BAG57589;BAG60266;BAG61395;BAG62458;CAA39849;EAW77884;EAW77885;EAW77886;EAW77887;EAW77888;EAW77889;EAW77890;NP_001193725;NP_001193726;NP_001193727;NP_001193728;NP_002645;NP_872270;NP_872271;P14618 Hs.534770 1702584;1767423;2119396;2137269;2155315;2169495 GDB:451703;RH48501;RH67936;RH68647;RH70518;SHGC-34981 CTHBP;MGC3932;OIP3;PK3;PKM2;TCB;THBP1 OIP-3;OPA-interacting protein 3;PK, muscle type;cytosolic thyroid hormone-binding protein;p58;pyruvate kinase 2/3;pyruvate kinase PKM;pyruvate kinase isozymes M1/M2;pyruvate kinase muscle isozyme;thyroid hormone-binding protein 1;thyroid hormone-binding protein, cytosolic;tumor M2-PK APPROVED protein-coding ENSG00000067225 9021 01529 179050 REVIEWED 1352784 PKN1 protein kinase N1 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 p13.12 14405166 14443679 + 14544166 14582679 + 1580863;6480464 10619026;12761180;8805275;8135837;18029348;18713748;18519042;18429822;17301291;17192257;17081983;16964243;16331689;16189514;15791647;15489334;15302935;15123640;14741690;14702039;14514689;12514133;12477932;12435421;12387894;11930178;11802708;11432776;11259428;11134534;11104762;11078882;11054541;10843871;10809724;10792047;10764742;10753910;10640683;10467162;10388627;10358086;9832145;9751706;9637778;9570957;9546672;9533029;9446575;9199504;9175763;9030526;8816775;8621664;8571127;8557118;7988719;7957185;7851406;12773565;9535835;19913121;20628086;17332740;16611232;18006505;18066052;19427017;20188095;20237496;9478917;21351730;19036992;21224381;21357687;21754995;22893700;22939629;22623531;12716939;21890473;21900206;19214198 5585 K7EKY9;K7EL10;K7EM57;K7EN76;K7EPK3;K7ES10;Q16512 ABBA01029666;AC008569;AK123007;AK292130;AK313886;AMYH01009531;AMYH01009532;BC018575;BC040061;BC094766;BQ946818;BU628889;CH471106;D26181;NM_002741;NM_213560;S75546;U33053 AAB33345;AAC50209;AAH40061;AAH94766;ABM83403;BAA05169;BAF84819;BAG36611;BAG53845;EAW84419;EAW84420;EAW84421;NP_002732;NP_998725;Q16512 Hs.466044 5127349 RH78642 DBK;MGC46204;PAK-1;PAK1;PKN;PKN-ALPHA;PRK1;PRKCL1 OTTHUMP00000037582;OTTHUMP00000037583;protease-activated kinase 1;protein kinase C-like 1;protein kinase C-like PKN;protein kinase C-related kinase 1;protein kinase PKN-alpha;protein-kinase C-related kinase 1;serine-threonine kinase N;serine-threonine protein kinase N;serine/threonine protein kinase N;serine/threonine-protein kinase N1 APPROVED protein-coding ENSG00000123143 9405 03019 601032 REVIEWED 5489212 PKP4P1 plakophilin 4 pseudogene 1 2 2 q34 209751737 209753983 + 210043528 210045787 + 402116 ABBA01062720;AC013409;AMYH01011457;NG_021602 1659508 STS-AA021522 pseudo 42661 INFERRED 1316687 PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 1 1 q32 199519203 199568740 + 201252580 201302121 + 1599084;6480464;7240710 9326952 10852826;7527055;9369526;19165232;19016709;18519826;17668353;17593084;16632867;16159729;15988759;15663951;12840072;12839569;12477932;11994137;11790773;10951270;10880961;10374265;9721216;9606214;9272178;7890138;14673151;19913121;20628086;20634891;20562859;17549794;20348237;20613778;11500511;19615732;19945625;20156963;20379614;18029348;21800051;22170739;21139048;21947748;22797925 5317 Q13835;Q14BN3 ABBA01027534;AC119427;AK123555;AK299473;AK315291;AK316131;AMYH01001642;BC040253;BC114571;BC115702;CH471067;CS673442;CS673444;CS690825;CS690827;FB665578;FB665580;GM706790;GM706792;NG_023337;NM_000299;NM_001005337;X79293;Z34974;Z73678 AAI14572;AAI15703;BAG61437;BAH14502;CAA55881;CAA84426;CAA98022;CAP07488;CAP07489;CAP11456;CAP11457;CAR97070;CAR97071;CAT82292;CAT82293;EAW91350;EAW91351;EAW91352;NP_000290;NP_001005337;Q13835 Hs.497350 1341884;1646424;1661377;1686672;1721231;1730783;1759109;2147503;5123390 D1S310;D1S3142;D1S477;G34869;G59460;SHGC-150584;SHGC-1568;SHGC-34136;SHGC-76146 B6P;MGC138829 OTTHUMP00000033848;OTTHUMP00000033849;band 6 protein;plakophilin-1 APPROVED protein-coding ENSG00000081277 9023 03579 601975;604536 REVIEWED 1348448 PKNOX2 PBX/knotted 1 homeobox 2 Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009] 11 11 11 q24.2 122194601 122463611 + 124539769 124808495 + 125034559 125303285 + 6480464 16344560;15489334;15339927;14702039;12477932;11972344;11549286;21703634;22648509;19913121;20628086;12412021;19721000;20379614;21298047;21956439;22137330;22488850;22688191;23251661 63876 B7ZAF3;E9PKL2;E9PQS4;E9PRB6;F5GZ15;H0YLV3;H0YLX0;Q96KN3 AB065001;ABBA01031244;ABBA01031245;ABBA01031246;ABBA01031247;AJ417081;AK023136;AK023792;AK295857;AK298999;AK316001;AK316268;AL512682;AMYH01004104;AP000708;AP001007;AP003061;AP003069;BC045626;BX648615;CH471065;DA789677;NM_022062 AAH45626;ABZ92374;ACE86602;ACE87283;BAB14422;BAB83665;BAH12203;BAH12921;BAH14372;BAH14639;CAD01142;CAH56146;EAW67631;EAW67632;EAW67633;NP_071345;Q96KN3 Hs.278564 1339434;1658890;1675842;1683854;1715505;1733752;1737605;1740821;1740825;1750393;1768081;1772542;1848141;2124149;2162125;5093042 A004A26;A009E38;AFM210ve3;D11S1005;D11S1108;D11S2090;D11S3196;D11S420;D11S4445;D11S4447;D11S689;D6S1560;G32485;RH11980;RH120976;SHGC-112577 FLJ13074;PREP2 OTTHUMP00000231418;OTTHUMP00000231419;OTTHUMP00000231420;PBX/knotted homeobox 2;homeobox protein PKNOX2;homeobox protein PREP-2 APPROVED protein-coding ENSG00000165495 16714 17857 613066 VALIDATED 4889246 PLA2G12AP1 phospholipase A2, group XIIA pseudogene 1 1 1 51121042 51121608 + 52834348 52834914 + 100420258 ABBA01074775;AL513218;AMYH01000619;NG_027094 2191693 MARC_5155-5156:966894589:1 pseudo 39248 INFERRED 4889245 PLA2G12AP2 phospholipase A2, group XIIA pseudogene 2 13 13 20530451 20530960 + 39476429 39476938 + 100420281 ABBA01021319;AL354819;AMYH01005045;NG_024917 pseudo 39249 INFERRED 1315204 PKP2 plakophilin 2 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 p11 32834947 32941047 - 32943680 33049780 - 1580872;1580873;1580863;6480464;6907045;7240710 16567567;15489853 22019812;8922383;19427443;18632414;18596851;18474624;17521752;17041889;17010805;16876743;16549640;16415378;16344560;15324660;15231748;12941695;12477932;11790773;11416169;10852826;10828611;10374265;10374264;9721216;19302745;19084810;15778465;21145461;18029348;19551809;19863551;19880068;19955750;20031616;20031617;20215590;20400443;18662195;20554761;20693980;20864495;19533476;21378009;21139048;21906983;22119253;22035158;22170284;20301310;17979178;22751105;23000965;23147395;21947748;23251661;23455922;22781308 5318 Q99959 ABBA01031702;ABBA01031703;AC087311;AC087588;AK299139;AMYH01004375;AMYH01004376;AU125826;AW439621;BC070083;BC094762;BC126199;BC143966;BC143967;BX956935;CH471116;DB454360;EU492903;EU520483;EU520484;EU520485;EU520486;NG_009000;NM_001005242;NM_004572;X97675 AAH94762;AAI26200;AAI43967;ACD03459;ACD13292;ACD13293;ACD13294;ACD13295;ADR83411;BAG61191;CAA66264;CAA66265;EAW88511;EAW88512;EAW88513;EAW88514;EAW88515;EAW88516;NP_001005242;NP_004563;Q99959 Hs.164384 1336387;1658711;1675487;1688338;1722761;2107517;2141421;2143242;2168845 A004R21;D12S1692;G60319;PKP2__7009;RH46276;RH65661;RH80560;RH80926;SHGC-53044 ARVD9;MGC177501 OTTHUMP00000241342;OTTHUMP00000241343;plakophilin-2 APPROVED protein-coding ENSG00000057294 9024 04177 602861;609040 REVIEWED 1319304 PKP3 plakophilin 3 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. [provided by RefSeq, Jul 2008] 11 11 p15 384217 394908 + 394217 404908 + 1580863;6480464 18801625;18729189;17391671;16964243;16407409;15951569;15489334;15302935;12827610;12707304;12477932;10852826;10381383;10374265;8125298;15778465;22223854;20859650;20501752;20348237;19913121;20628086;21194493;19531213;21947748;22701666 11187 E9PJR7;E9PK71;E9PKC4;E9PQ15;E9PRW6;H0YEY5;Q9Y446 ABBA01015180;ABBA01015181;AC138230;AF053719;AK025067;AK223511;AMYH01003281;AMYH01003282;AMYH01003283;BC000081;BG611119;BX356582;CH471158;FN421477;NM_007183;Z98265 AAF23050;AAH00081;ABM82618;ABM85801;BAD97231;CAB44310;CAZ65731;EAX02322;EAX02323;NP_009114;Q9Y446 Hs.534395 OTTHUMP00000147609;plakophilin 3b;plakophilin-3 APPROVED protein-coding ENSG00000184363 9025 05711 605561 REVIEWED 1317269 PKP4 plakophilin 4 Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms. [provided by RefSeq, Jul 2008] 2 2 q24.1 159021722 159246187 + 159313476 159537941 + 1580863;6480464 19167335;8937994;19165527;19005682;18649358;17264675;17115030;17081983;16094384;15951569;15304078;14702039;12615965;12522270;12477932;12426320;12370826;12047349;11711544;11206135;22889411;10896674;10092585;10037471;9721216;9342840;11821434;15032605;16169070;19339549;19706687;19830446;20379614;21674799;22990118;17370265;21900206;21139048;21890473;21906983;23000965;23139756;22965878;23251661;22053931 8502 E7EMY7;E7EP40;E7EST6;E9PHJ1;H0YFB1;Q99569 ABBA01004853;AC005042;AC008070;AK054911;AK055015;AK055823;AK124237;AK128720;AMYH01011202;AMYH01011203;BC034473;BC041163;BC048013;BC050308;CH471058;NM_001005476;NM_003628;U60472;U81005;X81889 AAD00454;AAH50308;AAQ13346;AAY14929;AAY62612;CAA57478;EAX11425;EAX11426;EAX11427;EAX11428;EAX11429;EAX11430;EAX11431;EAX11432;EAX11433;NP_001005476;NP_003619;Q99569 Hs.407580 1645083;1645085;1656895;1659508;1669147;1672684;1685512;1706548;1710250;1710360;1727591;1734882;1754683;1756849;1773810;1773812;1776008;1783868;1848672;1853630;2123631;2154552;2168622;2177950;2178088;5093668;5491834 A005B01;A009U35;D2S1320;D2S1623E;D2S1649E;D2S1986;D2S1991;D2S2505;D2S2681;DZIP1;G20235;G32853;G63204;RH45241;RH92183;SHGC-101671;SHGC-133038;SHGC-144007;SHGC-24308;SHGC-56770;SHGC-58134;SHGC-63463;SHGC-81249;SHGC-82440;SHGC-85218;STS-AA021522;WI-22189 FLJ31261;FLJ42243;p0071 OTTHUMP00000204742;OTTHUMP00000204743;catenin 4;plakophilin-4 APPROVED protein-coding ENSG00000144283 9026 05043 604276 REVIEWED 736427 PLA2G10 phospholipase A2, group X 16 16 p13.1-p12 14673906 14696027 - 14766405 14788526 - 1300048;1580863;6480464;6907045 19336475;18587072;17077289;16962371;16438975;15781456;15489334;15007070;14962950;14501581;12664556;12477932;12161451;12048163;12021277;11741884;11019817;10922494;8617505;17093191;9745929;9377118;9188469;18511424;15927955;19495570;22494626;16169070;20357262;20974857;20833395;21255140;21878635;21652694;23349189;22967861 8399 H3BRW4;O15496 ABBA01006896;AC009167;AMYH01007181;BC069539;BC106731;BC106732;BC111804;CH471112;CR456885;NM_003561;U95301 AAB64410;AAH69539;AAI06732;AAI06733;AAI11805;CAG33166;EAW85104;NP_003552;O15496 Hs.567366 1729758;2174334 D16S312;RH65989 GXPLA2;GXSPLA2;MGC119918;MGC119919;MGC133367;SPLA2 GX sPLA2;OTTHUMP00000045725;group 10 secretory phospholipase A2;group X secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 10;phospholipase a2, group 10;sPLA2-X protein-coding ENSG00000069764 9029 04674 603603 PROVISIONAL 1343434 PLA1A phospholipase A1 member A The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 3 3 q13.13-q13.2 120799436 120831342 + 119316695 119348658 + 1580863;6480464 10196188;16344560;15489334;12477932;12436198;12069807;9074642;8999922;8125298;1531641;19913121;20628086;20573295;17207965;19632984;21832049 51365 G5E9W0;H7C4H1;Q53H76 ABBA01061581;AC073352;AF035268;AF035269;AK222705;AK301880;AK313519;AMYH01013419;BC035347;BC047703;BE221465;BX647516;CH471052;DB189568;DB255030;NG_029696;NM_001206960;NM_001206961;NM_015900;U37591 AAC98921;AAC98922;AAC99994;AAH47703;ADQ33095;BAD96425;BAG36299;BAG63314;EAW79557;EAW79558;EAW79559;EAW79560;NP_001193889;NP_001193890;NP_056984;Q53H76 Hs.437451 2127813;2130997;2185281;2219510 G29240;PLA1A__2651;SHGC-77236;STS-T96131 PS-PLA1;PSPLA1 OTTHUMP00000215247;OTTHUMP00000215248;OTTHUMP00000215249;OTTHUMP00000215250;phosphatidylserine-specific phospholipase A1;phosphatidylserine-specific phospholipase A1alpha;phospholipase A1 member A APPROVED protein-coding ENSG00000144837 17661 07078 607460 REVIEWED 1349993 PLA2G2C phospholipase A2, group IIC 1 1 1 p36.12 18813602 18824805 - 20363071 20374274 - 20490484 20501687 - 6480464;6907045 8838795 391013 J3KMZ3;Q5R387 ABBA01059774;AMYH01000318;AMYH01000319;NM_001105572;Z98257 NP_001099042;Q5R387 Hs.512512 OTTHUMP00000002791;phosphatidylcholine 2-acylhydrolase-like protein GIIC;phospholipase A2, group IIC (possible pseudogene);putative inactive group IIC secretory phospholipase A2 protein-coding ENSG00000187980 9032 PROVISIONAL 1312232 PLA2G12A phospholipase A2, group XIIA Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008] 4 4 4 q25 107924808 107944904 - 110854139 110870660 - 110631145 110651242 - 1580863;6480464;6907045 14516201;12975309;11031251;16303743;15489334;19773279;20332099;12522102;12477932;11278438;9745929;9377118;19913121;20628086;20385819 81579 D6RBP5;Q542Y6;Q9BZM1 ABBA01063783;AC004067;AF306567;AF332892;AK075389;AK313081;AMYH01014458;AY359024;BC017218;BI667755;CH471057;CS051187;NM_030821 AAG50243;AAG50289;AAH17218;AAQ89383;ABM83651;ABM87859;BAC11589;BAG35907;CAI72089;EAX06246;EAX06247;EAX06248;EAX06249;NP_110448;Q9BZM1 Hs.389452 1648578;1687894;1779044;1797992;1852255;2131915;2138797;2171410;2186639;2186687;2191693;5092608;5093518;5125704 A005A08;A009Q08;G32211;G32765;MARC_5155-5156:966894589:1;PLA2G12_1916;SHGC-24776;SHGC-24817;SHGC-36185;SHGC-60101;SHGC-67246;SHGC-67334;STS-N92558;WI-21562 GXII;PLA2G12;ROSSY GXII sPLA2;OTTHUMP00000162744;OTTHUMP00000219719;group XII secreted phospholipase A2;group XIIA secreted phospholipase A2;group XIIA secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 12A;sPLA2-XII APPROVED protein-coding ENSG00000123739 18554 17858 611652 VALIDATED 1351879 PLA2G12B phospholipase A2, group XIIB Phospholipase A2 (PLA2) enzymes catalyze hydrolysis of glycolipids to release free fatty acids and lysophospholipids. PLA2G12B belongs to the PLA2 family, but it is catalytically inactive due to an amino acid change in its active site and has altered phospholipid-binding properties (Rouault et al., 2003 [PubMed 14516201]).[supplied by OMIM, Mar 2008] 10 10 10 q22.1 67980077 67999649 - 74364944 74384516 - 74694938 74714510 - 1580863;6480464;6907045 15489334;15340161;14516201;12477932;9745929;9377118;19817957 84647 Q9BX93 ABBA01020345;AC069548;AF339053;AF349540;AK311349;AK313712;AMYH01002824;AY358032;BC093996;BC111946;BC143532;BF939574;CH471083;NM_032562 AAH93996;AAI11947;AAI43533;AAK30168;AAL09472;AAQ92918;EAW54464;EAW54465;EAW54466;NP_115951;Q9BX93 Hs.333175 1683519 RH98272 FKSG71;GXIIB;GXIIIsPLA2;MGC138151;PLA2G13 GXIII sPLA2-like;OTTHUMP00000019792;group XIIB secretory phospholipase A2-like protein;group XIII secreted phospholipase A2;group XIII secretory phospholipase A2-like protein;phospholipase A2, group XIII;sPLA2-GXIIB APPROVED protein-coding ENSG00000138308 18555 10155 611653 VALIDATED 1322150 PLA2G2F phospholipase A2, group IIF 1 1 1 p35 18788941 18799997 + 20338410 20349466 + 20465823 20476879 + 1580863;6480464;6907045 11112443;16710414;14702039;11877435;9745929;9377118;20056178 64600 Q9BZM2 ABBA01059774;AF306566;AK093645;AL158172;AMYH01000318;BM987713;BX647458;CH471134;NM_022819;Z98257 AAG50242;AAI56848;BAC04210;EAW94916;NP_073730;Q9BZM2 Hs.302034 FLJ25429;FLJ36326 GIIF sPLA2;OTTHUMP00000002790;group IIF secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2F;sPLA2-IIF protein-coding ENSG00000158786 30040 07499 VALIDATED 1320041 PLA2G2E phospholipase A2, group IIE 1 1 1 p36.13 18573636 18576946 - 20119387 20122697 - 20246800 20250110 - 1580863;6480464;6907045 10681567;16710414;12477932;11922621;9745929;9377118;19122664;19915572;20056178;20228799;23511034 30814 Q9NZK7 ABBA01059770;AF189279;AL358253;AMYH01000317;BC069116;CH471134;NM_014589 AAF36541;AAH69116;AAI40241;AAI41620;EAW94906;NP_055404;Q9NZK7 Hs.272372 GIIE sPLA2;sPLA2-IIE GIIE sPLA2;OTTHUMP00000002789;group IIE secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2E;sPLA2-IIE protein-coding 13414 07143 VALIDATED 735909 PLA2G1B phospholipase A2, group IB (pancreas) Phospholipase A2 (EC 3.1.1.4) catalyzes the release of fatty acids from glycero-3-phosphocholines. The best known varieties are the digestive enzymes secreted as zymogens by the pancreas of mammals. Sequences of pancreatic PLA2 enzymes from a variety of mammals have been reported. One striking feature of these enzymes is their close homology to venom phospholipases of snakes. Other forms of PLA2 have been isolated from brain, liver, lung, spleen, intestine, macrophages, leukocytes, erythrocytes, inflammatory exudates, chondrocytes, and platelets (Seilhamer et al., 1986 [PubMed 3028739]) .[supplied by OMIM, Mar 2008] 12 12 q23-q24.1 119244297 119249975 - 120759914 120765592 - 1302550;1300048;1580863;6480464;6907045 12376327 7584826;6477929;7060561;1918029;9886417;15528384;16005851;17981679;12423354;19297324;18636547;18492292;17434532;16541075;16495221;16392040;15489334;15220446;14557262;12759552;12501175;12477932;11807183;11510783;11353443;11025364;10964913;10905638;10873103;10735945;10509674;9848887;9847074;9188469;8358438;8300559;8175726;7721806;7590434;6349696;3028739;2052621;9745929;9377118;19913121;20628086;22680611 5319 F8W062;P04054;Q9BS22 AA844927;ABBA01020108;AC003982;AK311830;AMYH01004799;AY438977;BC005386;BC013384;BC106725;BC106726;BE969737;BX113838;CA867923;CH471054;M21054;M21056;NM_000928 AAA36450;AAA60107;AAB95635;AAH05386;AAI06726;AAI06727;AAR05441;ACE87785;ACT64452;BAG34772;EAW98184;NP_000919;P04054 Hs.992 1742869;1788548;1788550 G67590;G67591;GDB:212655 MGC119834;MGC119835;PLA2;PLA2A;PPLA2 OTTHUMP00000240862;OTTHUMP00000240863;OTTHUMP00000240864;group IB phospholipase A2;phosphatidylcholine 2-acylhydrolase 1B;phospholipase A2;phospholipase a2, group ib 2289606 BW476_H APPROVED protein-coding ENSG00000170890 9030 01396 172410 VALIDATED 1344350 PLA2G15 phospholipase A2, group XV Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008] 16 16 q22.1 66836748 66852462 + 68279247 68294961 + 1582126;1580863;6480464;6907045 15781238 16169070;10092508;11790796;19461040;18983494;16973413;16303743;15489334;15340161;14754907;14702039;12975309;12477932;10395961;10230407;8125298;19913121;20628086;20877624;18029348;21906983 23659 B4DJW4;B4DPU0;B4DUD1;H3BM47;H3BMU8;H3BPT3;H3BT70;Q8NCC3 AB017494;ABBA01025482;ABBA01025483;AC020978;AK001705;AK074828;AK127898;AK222790;AK296263;AK298494;AK300596;AL110209;AL389957;AMYH01007756;AY358425;BC011640;BC062605;CH471092;NM_012320 AAH11640;AAH62605;AAQ88791;ACE87583;BAA76877;BAC11233;BAD96510;BAG50965;BAG58976;BAG60702;BAG62293;CAB53675;CAB97531;EAW83217;EAW83218;NP_036452;Q8NCC3 Hs.632199 1683787;1736616;1775304 D16S2605E;RH27239;SHGC-60695 ACS;DKFZp564A0122;GXVPLA2;LLPL;LPLA2;LYPLA3 1-O-acylceramide synthase;LCAT-like lysophospholipase;OTTHUMP00000174859;group XV phospholipase A2;lysophospholipase 3 (lysosomal phospholipase A2);lysosomal phospholipase A2 APPROVED protein-coding ENSG00000103066 17163 07128 609362 REVIEWED 737532 PLA2G16 phospholipase A2, group XVI 11 11 q12.3 63098825 63138471 - 63341934 63381941 - 1580863;2290002;2290001;6480464 11526504;9049257 9771974;17374643;18614531;17003497;16713569;16189514;15489334;12477932;12054741;11973642;11337467;10508479;19136964;19615464;20501645;21139048;21890473;22923616;22605381 11145 F5H7E5;P53816 AB030814;AB439591;ABBA01003256;AF317086;AI374456;AI590735;AK313075;AMYH01003694;AP000753;AP001591;AU099540;BC001387;BC103807;BC103808;BG719903;CH471076;CK003948;NM_001128203;NM_007069;X92814 AAH01387;AAI03808;AAI03809;AAL26892;ABM83494;ABM86709;BAB08108;BAG35901;BAH08749;CAA63423;EAW74158;EAW74159;EAW74160;NP_001121675;NP_009000;P53816 Hs.502775 1688209;1722631;5126474;7185250 D11S1883;G60399;RH80558;STS-X92814 AdPLA;H-REV107-1;HRASLS3;HREV107;HREV107-1;HREV107-3;HRSL3;MGC118754 Ca-independent phospholipase A1/2;H-rev 107 protein homolog;HRAS-like suppressor 1;HRAS-like suppressor 3;OTTHUMP00000237069;adipose-specific PLA2;adipose-specific phospholipase A2;group XVI phospholipase A1/A2;group XVI phospholipase A2;hras like suppressor;renal carcinoma antigen NY-REN-65 protein-coding ENSG00000176485 17825 13671 613867 VALIDATED 731016 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009] 1 1 p35 20174518 20179496 - 20301924 20306932 - 619597;1300048;1580863;6480464;6482727;6482717;6482724;6482726;6482720;6482728;6482729;6482722;6484113;6482721;6482719;6482718;6482725;6482716;6907045;7240710 7781071;19037975;22173044;9695991;19672667;20463618;18096355;17982090;19235614;19306380;21161352;21868473;21042565;22331023 16461407;16381901;16585943;16368710;16278219;16253130;16177112;15964894;15897607;15802623;15576846;15489336;15489334;15318030;15259375;15007070;14639048;14499668;12773489;12694401;12626587;12616631;12574380;12501175;12477932;12456890;12359734;12244093;12085323;11903045;11839587;11752212;11076863;10771478;10747008;9848887;9811056;9538252;9155583;8889548;8838795;8824283;8399335;8175726;7721806;7664108;3240982;3202859;2925633;2925608;2775276;2708461;2239446;2062381;2046470;1948070;9745929;9377118;15688033;9272153;9032461;18827909;11256614;17069818;19495570;19276398;19245588;19169647;19065693;18992148;18848929;18755682;18752058;18676680;18635536;18540439;18519687;18508504;18192373;18089561;18037706;17936881;17932742;17892360;17565722;17545304;17447002;17264305;17164967;17029400;16710414;16617059;16603549;20432503;19913121;20628086;20061576;15474031;16169070;19170196;19621421;19625176;19647092;19692168;19798476;19818633;19850087;19962957;20008021;20056178;20357262;20600872;16712791;19449149;20837598;20639215;21404895;20812222;21099324;21068383;23026567;21455584;21255140;21382622;21417548;21544859;21799821;21884198;21900206;22127954;21848517;22118674;23609358;22075700;21813137;22989727;22042222;22056971;22406427;23079010;23482564;22266334;23343574 5320 P14555;Q9C011 ABBA01059772;AF154852;AF154853;AF224774;AF368841;AK291302;AL358253;AMYH01000318;AY462114;AY656695;AY656696;BC005919;BM708748;BU626291;BX641714;CB132375;CH471134;CR456865;M22430;M22431;NG_012928;NM_000300;NM_001161727;NM_001161728;NM_001161729 AAA36549;AAA36550;AAG49535;AAH05919;AAK57824;AAK57825;AAM21271;AAR16084;AAT73043;AAT73044;ABM84083;ABM87450;BAF83991;CAG33146;CAL38367;EAW94907;EAW94908;EAW94909;EAW94910;NP_000291;NP_001155199;NP_001155200;NP_001155201;P14555 Hs.466804 2178859;2217752 PLA2G2A_2785;SHGC-74294 MOM1;PLA2;PLA2B;PLA2L;PLA2S;PLAS1;sPLA2 GIIC sPLA2;NPS-PLA2;OTTHUMP00000002786;group IIA phospholipase A2;non-pancreatic secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2A;phospholipase A2, membrane associated APPROVED protein-coding ENSG00000188257 9031 01397 114500;172411 REVIEWED 1320432 PLA2G2D phospholipase A2, group IID This gene encodes a secreted member of the phospholipase A2 family, and is found in a cluster of related family members on chromosome 1. Phospholipase A2 family members hydrolyze the sn-2 fatty acid ester bond of glycerophospholipids to produce lysophospholipids and free fatty acid. This gene may be involved in inflammation and immune response, and in weight loss associated with chronic obstructive pulmonary disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 1 1 p36.12 20311019 20318595 - 20438432 20446008 - 1580863;6480464;6907045 10455175;18958346;16897354;16710414;16381901;16002569;15489336;15489334;15379211;15052324;12975309;12895207;12477932;12396716;11076863;9745929;9377118;16188494;19365107;20056178;20237496;22240557;22490726;23251661;23533611;18405237 26279 Q6UWX0;Q9UNK4 ABBA01059773;AF112982;AF188625;AK026347;AK290406;AK301396;AK310156;AK311903;AL158172;AMYH01000318;BC025706;CH471134;DC295429;NM_001271814;NM_012400 AAD51390;AAF09020;AAH25706;BAF83095;BAG34844;BAG62931;CAL37796;CAL37832;CAL37855;CAL38474;CAL38699;EAW94915;NP_001258743;NP_036532;Q9UNK4 Hs.189507 5037552 D8S2279 PLA2IID;SPLASH;sPLA2-IID;sPLA2S GIID sPLA2;OTTHUMP00000002788;PLA2IID;group IID secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 2D;sPLA2-IID;secretory phospholipase A2s;secretory-type PLA, stroma-associated homolog protein-coding ENSG00000117215 9033 07546 605630 REVIEWED 1352050 PLA2G4D phospholipase A2, group IVD (cytosolic) The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009] 15 15 15 q15.1 19127581 19154452 - 40147173 40174044 - 42359881 42386752 - 737633;1580863;6480464 12477932 16213696;15489334;14709560;9745929;9377118;18686860;19913121;20628086;21832049 283748 Q86XP0 AB090876;ABBA01038382;ABBA01038383;AC084693;AMYH01006580;BC034571;CH471125;NM_178034 AAH34571;AAI40417;AAI46534;ABM82718;ABM85900;BAC67158;EAW92529;EAW92530;NP_828848;Q86XP0 Hs.380225 1732459;1736770 D15S518;D15S773 cPLA2delta cPLA2-delta;cytosolic phospholipase A2 delta;phospholipase A2 delta, cytosolic;phospholipase A2 group IVD APPROVED protein-coding ENSG00000159337 30038 07145 612864 VALIDATED 1313284 PLA2G3 phospholipase A2, group III PLA2G3 belongs to the family of secreted phospholipase A2 (sPLA2; EC 3.1.1.4) proteins. These Ca(2+)-dependent lipolytic enzymes have a conserved Ca(2+)-binding loop and a his-asp dyad in the catalytic site (Murakami et al., 2003 [PubMed 12522102]).[supplied by OMIM, Mar 2008] 22 22 q12.2 29860793 29866469 - 31530793 31536469 - 1580863;6480464;6907045 10713052;19371233;18801741;17980167;17868035;15863501;15489334;12522102;12477932;12127976;10591208;9745929;9377118;20492356;20654644;20930276;19851296;20056178;20198315 50487 Q9NZ20 ABBA01055321;AC005005;AF220490;AMYH01012713;BC025316;CH471095;NM_015715 AAD15617;AAF44746;AAH25316;ABM83758;ABM87077;EAW59941;NP_056530;Q9NZ20 Hs.149623 1686184;2157509;2158212;5093060 A009F03;G32496;RH70642;STS-R40003 GIII-SPLA2;SPLA2III GIII sPLA2;OTTHUMP00000199498;group 3 secretory phospholipase A2;group III secreted phospholipase A2;group III secretory phospholipase A2;phosphatidylcholine 2-acylhydrolase 3;phosphatidylcholine 2-acylhydrolase GIII;sPLA2-III APPROVED protein-coding ENSG00000100078 17934 07144 611651 VALIDATED 1318557 PLA2G4B phospholipase A2, group IVB (cytosolic) This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008] 15 15 15 q11.2-q21.3 18898654 18907988 + 42131011 42140346 + 42131011 42140346 + 1580863;6480464;6907045 10085124;10358058;17562024;16617059;16344560;12477932;11741884;10737800;9705332;8889548;20056178;20167866;19913121;20628086;11181995 100137049 H3BSX5;P0C869 ABBA01038386;AC020659;AK124489;AK299419;AK310651;AMYH01006578;BF372565;BM982475;BQ004235;BX648318;CA488226;CH471125;CU447449;DA250544;NG_029927;NM_001114633 BAG61401;EAW92522;NP_001108105;P0C869 Hs.198161 1679948;1693564;1698676;1736504;1853410;5022578;5022588 D15S711E;D1S1423;D5S1597E;RH102897;RH91785;SHGC-58472;WI-13757 DKFZp686N12131;FLJ17693;FLJ42498;FLJ53173;HsT16992;cPLA2-beta OTTHUMP00000201605;OTTHUMP00000210673;cytosolic phospholipase A2 beta;phospholipase A2 group IVB APPROVED protein-coding ENSG00000168970;ENSG00000243708 9036 606088 VALIDATED 1606120 PLA2G4F phospholipase A2, group IVF 15 15 15 q15.1 19201035 19216542 - 40220688 40236102 - 42433332 42448839 - 6480464 16572171;15866882;14702039;12477932;9745929;9377118;19913121;20628086 255189 A5PKZ7;C9J281;H3BMD0;H3BNW4;H3BPX7;H3BSG9;H7BXJ8;Q68DD2 ABBA01038381;AC036103;AK122623;AK172836;AK304368;AL832972;AMYH01006580;BC035335;BC040920;BC111481;BC131531;BC142682;BC146648;BM986790;CH471125;CR749451;NM_213600;NR_033151 AAH35335;AAI31532;AAI42683;AAI46649;BAD18801;BAG53627;BAG65207;CAH18288;EAW92531;EAW92532;EAW92533;EAW92534;NP_998765;Q68DD2 Hs.231873 1733654;2139888 D15S625E;SHGC-63492 DKFZp666G192;DKFZp781B229;PLA2G4F/Z;PLA2G4FZ cPLA2-zeta;cytosolic phospholipase A2 zeta protein-coding ENSG00000168907 27396 17326 VALIDATED 1348684 PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 19 19 q13.3 53242917 53305826 - 48551100 48614109 - 6480464 21600875;10085124;17459165;17417066;17213206;16882668;16181776;15944408;15908428;15788676;15489334;14702039;14529291;12502717;12477932;12396716;12039969;11958371;10708517;9705332;9202034;9745929;9377118;20452986;19913121;20628086;18686860;19501189;20016400;20056178;21184677;21832049;22108055 8605 M0QX83;M0QY18;M0QZB1;M0R0F6;M0R0M8;M0R1B4;M0R339;M0R3I9;Q9UP65 AB105806;AB105807;AB105808;ABBA01033010;ABBA01033011;ABBA01033012;ABBA01033013;ABBA01033014;ABBA01033015;ABBA01033016;ABBA01033017;AC010458;AC011466;AF058921;AF065214;AK022440;AK124241;AK126152;AK295400;AK314524;AL050193;AMYH01009896;AMYH01009897;AMYH01009898;AY485310;BC017956;BC063416;CH471177;CR456816;NG_016021;NM_001159322;NM_001159323;NM_003706 AAC32823;AAC78835;AAH17956;AAH63416;AAR25453;BAC87744;BAC87745;BAC87746;BAG37118;BAG58352;CAB43312;CAG33097;EAW52311;EAW52312;EAW52313;EAW52314;EAW52315;NP_001152794;NP_001152795;NP_003697;Q9UP65 Hs.631562 1664704;1783820;2120980;2177931;5014051;5015404;5015619;5015861;5016781;5017227;5020946;5022651;5037552;5109281;7185938 A004H25;D10S16;D11S2921;D11S3114;D19S664E;D1S1425;D8S2278;D8S2279;G38154;L17705;L17971;SHGC-153641;SHGC-67307;WI-14200 CPLA2-gamma;DKFZp586C0423;FLJ42247;FLJ44164 cytosolic phospholipase A2 gamma;phospholipase A2 group IVC APPROVED protein-coding ENSG00000105499 9037 04673 603602 REVIEWED 735872 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. [provided by RefSeq, Jul 2008] 1 1 q25 185064655 185224736 + 186798032 186958113 + 1580863;1642453;1642456;1642461;1642462;1642465;1642444;1642445;1642446;1642457;1642481;1642443;1642469;1642471;6480464;6482738;6484113;6482748;6907045;7240710 16933973;1642455;16203828;15557087;15306117;17483741;17459512;17305324;16621493;9879654;7635966;14664823;12490538;18718965;21172452 8381049;9430701;19560328;19527514;19450127;19336370;19280714;19237603;19176526;19091957;19019335;18840708;18818748;18665843;18632668;18566601;18562188;18502815;18471798;18451993;18388244;18280113;18029351;17976189;17971499;17901074;17873281;17685590;17672871;17629734;17460547;17417066;17344094;17178883;17081983;16964243;16963226;16829784;16754327;16710414;16603549;16585943;16462602;16409471;16407173;16344560;16221889;16181776;15975962;15789617;15489334;15475363;15358156;15331599;15318030;15305015;15302935;15294900;15276701;15259375;15118355;15041036;15007070;14963030;14769798;14726390;14686920;14609334;12885780;12765847;12477932;12414998;12124392;12050227;12048163;11416127;10978317;10625659;10319815;10085124;9875225;9665851;9468497;9239738;8636128;8612580;8175726;8083230;7999086;7862535;7800505;21185392;7782073;1904318;1869522;9745929;9377118;15862967;22648535;20227521;20203101;20211985;19913121;20628086;20808133;21247147;21268080;20635443;20643646;20392485;20478385;20802406;20464283;21148506;20435073;8702602;18583979;18686860;19401382;19625654;19632995;19675210;19717620;19753100;19778898;19795129;20034614;20056178;20069553;20112044;20351714;20379614;8910365;20140262;20705608;21097525;21127289;22911431;22939629;22728329;22863883;21478406;21825068;21536681;21198294;20066429;21771656;21862584;22003202;18781797;21139048;21315000;21896865;21906983;21963094;23043861;22378731;22138395;22274867;22456504;22895089;23307260;22949513;22398721 5321 E7EU42;P47712 ABBA01027700;ABBA01027701;AK290336;AK302938;AL022147;AL049797;AMYH01001564;AMYH01001565;AY552098;BC114340;BX118890;CH471067;D38177;DA451491;DQ399336;M68874;M72393;NG_012203;NM_024420;U01845;U08374;U11239;Z33877 AAA60105;AAB00789;AAI14341;AAS45712;BAA07375;BAF83025;BAG64096;EAW91217;EAW91218;NP_077734;P47712 Hs.497200 1693062;1701660;1743439;1789286;1850910;2130480;2137765;2165932;2189755;5016516;5491758 AL034257;D13AT1;D1S3128;D1S3460;G67877;GDB:321239;GDB:582583;PLA2G4A;RH104487;RH17731;SHGC-35515 MGC126350;PLA2G4;cPLA2-alpha OTTHUMP00000033543;cPLA2;calcium-dependent phospholipid-binding protein;cytosolic phospholipase A2;lysophospholipase;phosphatidylcholine 2-acylhydrolase;phospholipase A2 group IVA 2316338 GLUCO223_H APPROVED protein-coding ENSG00000116711 9035 08986 600522 REVIEWED 1606471 PLA2G4E phospholipase A2, group IVE 15 15 15 q15.1 19043598 19070102 - 40063244 40089737 - 42273780 42342901 - 6907045 16572171;15866882;15489334;14702039;12477932;19913121;20628086 123745 B7WPN2;C9JK77;Q3MJ16 ABBA01038383;AC039056;AI224165;AK127558;AMYH01006580;BC101584;BC101612;BC143436;BX648482;NM_001206670 AAI01585;AAI01613;BAC87034;NP_001193599;Q3MJ16 Hs.668060 1736744;1736764;1736776;2124139;5109281 D15S758;D15S768;D15S776;D1S1425;SHGC-7407 FLJ45651;MGC126633;MGC126661 OTTHUMP00000160906;cPLA2-epsilon;cytosolic phospholipase A2 epsilon protein-coding ENSG00000188089 24791 13510 VALIDATED 735328 PLA2G5 phospholipase A2, group V This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 1 1 p36-p34 20269288 20290981 + 20396701 20418394 + 1300048;1580863;6480464;6907045 8300559;17545304;16794232;16785555;16710414;16601231;16476735;16146426;16115226;16040605;15489334;15377291;15259375;14702039;12963740;12796497;12477932;12423354;12124392;11741884;11522612;11080676;10873151;10839997;10751642;10531350;9767110;8889548;8838795;9745929;9377118;19913121;20628086;20083228;20448053;22041135;22137173 5322 P39877 ABBA01059773;AK097693;AL158172;AMYH01000318;AV709457;AY524778;BC036792;BM684907;BM705479;BX648966;CH471134;NG_032045;NM_000929;U03090 AAC28886;AAH36792;AAR92480;BAG53516;EAW94911;EAW94912;EAW94913;NP_000920;P39877 Hs.319438 1733054;1788352;1788354;1788356;1788358;2145245;2156597 D1S1402;D1S2402;G67476;G67477;G67478;G67479;SHGC-74306 DKFZp686C2294;FRFB;GV-PLA2;MGC46205;PLA2-10;hVPLA(2) Ca2+-dependent phospholipase A2;OTTHUMP00000002785;calcium-dependent phospholipase A2;group V phospholipase A2;phosphatidylcholine 2-acylhydrolase 5 APPROVED protein-coding 9038 03117 228980;601192 REVIEWED 1350138 PLA2R1 phospholipase A2 receptor 1, 180kDa This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 2 2 q23-q24 160506258 160627367 - 160797260 160919126 - 1580863;6480464;6907045 7721806;19571279;19197340;12225974;12107411;10922494;10864436;10737800;7925459;15342556;20805699;11019817;12477932;19730683;23431073;20937089;21323541;23194743;15611272;22673885;22371247 22925 B7ZML4;Q13018 ABBA01004870;AC080166;AC093873;AI672072;AL598405;AMYH01011206;BC140823;BC144631;BF725498;BF805380;BP351340;BQ025507;BQ637466;BX485732;CH471058;D30780;NM_001007267;NM_001195641;NM_007366;U17033;U17034;W15508 AAA70110;AAC50163;AAI40824;AAI44632;AAY24052;AAY24190;BAA06444;EAX11391;EAX11392;EAX11393;NP_001007268;NP_001182570;NP_031392;Q13018 Hs.410477 1700642;1847912;2186507 RH103944;RH45253;SHGC-35506 CLEC13C;PLA2-R;PLA2G1R;PLA2IR;PLA2R 180 kDa secretory phospholipase A2 receptor;C-type lectin domain family 13 member C;M-type receptor;OTTHUMP00000205042;OTTHUMP00000205043;secretory phospholipase A2 receptor APPROVED protein-coding ENSG00000153246 9042 09222 604939 REVIEWED 1344285 PLAC5 placenta-specific 5 p24.3-p22.3 191586 BG354571 protein-coding 14617 1345117 PLAC7 placenta-specific 7 q13.31 191587 BG354573 Hs.656741 protein-coding 14619 732454 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010] 22 22 q13.1 36837448 36907707 - 38507502 38577836 - 1580863;6480464;6482737;6482741;6482740;6482748;6482735;6482738;6482732;6482733;6482718;6482734;6482739;6482736;6907045;7240710 19087156;15003994;17033970;21172452;19893029;18718965;22442204;20938027;21868473;21368765;18305254;19138334 19029121;9417066;18029348;19225567;19059366;18826942;18799783;18790994;18775417;18676680;18570303;18562188;18208975;17459165;17275398;17254819;17188740;17082190;17003039;16966332;16943248;16799181;16783378;16585943;15573142;15489334;15461802;15385540;15364929;15318030;15252038;15249229;15052324;14749286;14702039;14634037;12477932;12423354;12208880;10591208;10336645;10092647;9079687;9745929;9377118;19913121;20628086;20647408;20219570;20669327;20629144;19164547;19170196;19556238;19578364;19578365;19625176;19692168;20053941;20171194;20186954;20379614;20464283;20301718;20584031;20813170;20886109;21478494;20881058;21191104;23007400;23074238;22680611;21700586;23043102;23182313;23824909;21482170;20619503;22213678;22218592;20301402;21812034;22406380;22549787;20686565;21983787;22459563;23196729;22903185 8398 A8K460;B0QYE9;B7Z6K3;E7EX67;F2Z3G2;F8WEN3;F8WEQ9;H0Y4M7;H0Y6T3;H0Y6W2;H0Y7G5;H7C3P5;M0R1Q9;M0R3D9;O60733 ABBA01055505;ABBA01055506;AF064594;AF102988;AF102989;AF116267;AF117692;AK001290;AK096521;AK128862;AK290825;AK291212;AK300459;AK308308;AL021977;AL022322;AL080187;AMYH01012760;AY522921;BC034592;BC036742;BC051904;CH471095;CR456543;NG_007094;NM_001004426;NM_001199562;NM_003560 AAC97486;AAD30424;AAD41722;AAD41723;AAF34728;AAH36742;AAH51904;AAR92478;BAF83514;BAF83901;BAG53314;BAH13289;CAB45768;CAG30429;CAK54574;CAK54873;EAW60219;EAW60220;NP_001004426;NP_001186491;NP_003551;O60733 Hs.170479 1690886;1711496;1711498;1711500;1711502;1711504;1711506;1711508;1711510;1711512;1711514;1711516;1711770;1733254;1778238;1796518;5016596;5020740;5024413 AL022554;D22S622;G49249;G49250;G49251;G49252;G49253;G49254;G49255;G49256;G49257;G49258;G49259;G49410;GDB:631802;L17809;L17877;PLA2G6_1043;RH99077 CaI-PLA2;GVI;INAD1;IPLA2-VIA;NBIA2;NBIA2A;NBIA2B;PARK14;PLA2;PNPLA9;iPLA2;iPLA2beta 85 kDa calcium-independent phospholipase A2;85/88 kDa calcium-independent phospholipase A2;GVI PLA2;OTTHUMP00000199456;OTTHUMP00000199457;calcium-independent phospholipase A2;cytosolic, calcium-independent phospholipase A2;group VI phospholipase A2;iPLA2-beta;intracellular membrane-associated calcium-independent phospholipase A2 beta;neurodegeneration with brain iron accumulation 2;patatin-like phospholipase domain containing 9;patatin-like phospholipase domain-containing protein 9;phospholipase a2, group vi APPROVED protein-coding ENSG00000184381 9039 04675 256600;603604;610217;612953 REVIEWED 1321810 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 p21.2-p12 46780237 46811061 - 46672053 46703430 - 1581024;1581025;1580863;6480464;6482785;6482780;6482781;6482748;6482773;6482777;6482771;6482776;6482774;6482783;6482784;6482786;6482772;6482770;6482775;6482782;6482769;6482778;6482779;7240710 11807372;10733466;21698055;15699277;15115767;21172452;22024276;17070179;22112193;17326817;19886071;22246459;21970837;19644070;22075154;22340269;18201705;22399516;22499993;16952920;16278861 18383322;9745929;21553808;8675689;10748027;19583678;19373214;19336475;19247692;19135199;19069165;19034521;18983494;18930040;18832472;18789441;18784071;18779277;18660489;18587071;18434304;18431085;18408575;18356547;18259035;18204052;18165686;18094516;18061193;18001304;17981297;17908960;17587752;17509958;17502572;17251670;17174223;17160904;17090529;16787988;16530769;16438975;16371369;16308493;16223884;16086290;15956136;15489334;15364890;15342556;15318030;15215249;15148590;15081260;14749286;14671207;12801611;12782155;12649088;12590019;12548211;12477932;12466264;12428682;12068200;11861667;11850055;11810302;11501940;11389474;11369691;11294621;11248283;10362256;9759612;9472966;9412624;9384577;9245731;8624782;7700381;7592717;22447189;22898284;22338104;22359537;22859728;9377118;21606947;21155029;19913121;20628086;20634581;20442857;17207965;20926117;20625038;17092424;20444451;19272461;19359705;19500354;19578796;19596311;19763134;19804884;19850020;19892409;19910444;19948975;20080080;20185515;20185811;20200624;20331434;20479152;21247435;21281786;23361301;23413990;20067121;21490708;23083783;20367923;21880383;21933589;20507838;21834908;21176638;21432021;21107710;21476960;21882811;21708876;22164942;21616491;21620406;21316774;22300679;21942556;22028154;22153151;22003152;22197603;22139405;21714927;22202492;22178747;22784637;23000965;23118945;23089916;23118302;22797139;23140470;22632920;22665167;23089713 7941 B4DLM5;F5GYY6;Q13093 ABBA01050614;ABBA01050615;AK290381;AK294471;AK297066;AL451143;AL591242;AMYH01016329;BC025674;BC038452;BP326231;CH471081;NG_016204;NM_001168357;NM_005084;U20157;U24577 AAB04170;AAC50126;AAH38452;ADQ33028;BAF83070;BAG57699;BAG59587;EAX04301;EAX04302;NP_001161829;NP_005075;Q13093 Hs.584823 2150670;5125032 RH70216;RH71209 LDL-PLA2;LP-PLA2;PAFAD;PAFAH 1-alkyl-2-acetylglycerophosphocholine esterase;2-acetyl-1-alkylglycerophosphocholine esterase;LDL-PLA(2);LDL-associated phospholipase A2;OTTHUMP00000016555;PAF 2-acylhydrolase;PAF acetylhydrolase;gVIIA-PLA2;group-VIIA phospholipase A2;lipoprotein-associated phospholipase A2;platelet-activating factor acetylhydrolase APPROVED protein-coding ENSG00000146070 9040 03407 147050;600807;601690;614278 REVIEWED 1351974 PLAC1 placenta-specific 1 X X q26 133527539 133620179 - 133699873 133792513 - 1580863;6480464 10995572;18183594;17983203;17909063;17554801;17186554;16860456;16594548;16303743;15803460;15608456;15489334;14702039;12477932;12412044;20509147;19652226;19705800;21215095;21937108;21710262;21890473 10761 Q9HBJ0 ABBA01042457;ABBA01042458;ABBA01042459;ABBA01042460;ABBA01042461;ABBA01042462;ABBA01042463;ABBA01042464;ABBA01042465;ABBA01042466;ABBA01042467;ABBA01042468;ABBA01042469;ABBA01042470;ABBA01042471;AC004383;AF234654;AK075086;AL672032;AMYH01022993;AMYH01022994;BC022335;BC066327;CH471107;CQ783102;NM_021796 AAG22596;AAH22335;AAH66327;ABM82312;ABM85488;BAC11392;CAF86310;EAX11757;NP_068568;Q9HBJ0 Hs.496811 1342003;1644473;1658041;1748201;1748203;2113528;2113532;2135789;2138998;2217754 AL008942;DXS10104A7;DXS10106A11;DXS8041;DXS9780;G66699;G66744;L47788;PLAC1_3776;WIAF-1472 CT92 OTTHUMP00000024066;cancer/testis antigen 92;placenta-specific protein 1 protein-coding ENSG00000170965 9044 02245 300296 PROVISIONAL 1603163 PLAC1L placenta-specific 1-like 11 11 11 q12.1 57170489 57178257 + 59564324 59572093 + 59807748 59815517 + 6480464 15489334;14702039;12477932;22990118 219990 E9PJA4;Q86WS3 ABBA01021510;AK093517;AMYH01003663;AP000790;BC036256;BC048121;CH471076;CS072271;HC007216;HC044635;NM_173801 AAH36256;AAH48121;BAC04191;CAI93409;CBH19413;CBH30647;EAW73862;NP_776162;Q86WS3 Hs.132310 FLJ36198;TMEM122 OTTHUMP00000235849;placenta-specific 1-like protein;transmembrane protein 122 protein-coding ENSG00000149507 26699 08207 PROVISIONAL 1342779 PLAC8L1 PLAC8-like 1 5 5 5 q32 141543818 141563885 - 145444069 145464139 - 145463876 145483946 - 6480464 12477932 153770 A1L4L8;D6RBV4 ABBA01026345;AC091887;AMYH01015680;AMYH01015681;BC130586;BC130588;BC144387;BC144388;BC144389;BC144392;CH471062;NM_001029869 A1L4L8;AAI30587;AAI30589;ADR82838;EAW61851;NP_001025040 Hs.162369 OTTHUMP00000223867;PLAC8-like protein 1 protein-coding ENSG00000173261 31746 18737 PROVISIONAL 1348343 PLAC4 placenta-specific 4 21 21 21 q22.2 27745340 27755348 - 41469028 41479036 - 42547158 42557166 - 6480464 14702039;12477932;8406465;19913121;20628086;19892844 191585 Q8NAM4;Q8WY50 ABBA01044665;AF269287;AK027868;AK092431;AL773572;AMYH01012263;BC093685;BC101615;BC101617;HC007218;L13197;NM_182832 AAG23170;AAH93685;AAI01616;AAI01618;BAC03888;CBH19414;NP_878252;Q8WY50 Hs.472492 1648860;1648862;1667036;1685816;1731168;1775672;1790639;1794002;1854823;1854825;2132888;2182568;2217758;2220504;5022223;5022651;5125160 A005R16;D11S2921;D21S418E;G20436;PLAC4_3729;PMC310729P6;RH45177;RH79591;SHGC-52036;SHGC-52055;SHGC-87646;SHGC-87652;STS-T66917;STS_CEB270;UniSTS:483705;WI-11358;WI-17388 C21orf115;MGC126664;MGC126666;PRED78 placenta-specific protein 4 protein-coding 14616 613770 PROVISIONAL 1317680 PLAC8 placenta-specific 8 4 4 4 q21.22 81301714 81326359 - 84230867 84254913 - 84011201 84035911 - 6480464 16189514;12758124;12477932;12384430;11042152;19322201;20072156;18624398;21963094;22920440 51316 D6RA24;Q9NZF1 ABBA01063456;ABBA01063457;ABBA01063458;ABBA01063459;AC073840;AF208846;AJ422147;AK000140;AMYH01014357;BC012205;BI824905;CH471057;EU570985;EU570986;FJ795024;FJ882405;HC767538;HC876527;NM_001130715;NM_001130716;NM_016619 AAF64260;AAH12205;ACO37643;CAD19530;CBM40550;CBM42822;EAX05923;EAX05924;EAX05925;NP_001124187;NP_001124188;NP_057703;Q9NZF1 Hs.546392 1709690 SHGC-86332 C15;onzin OTTHUMP00000160805;OTTHUMP00000219375;OTTHUMP00000219376;OTTHUMP00000219377;placenta-specific gene 8 protein protein-coding ENSG00000145287 19254 06335 607515 VALIDATED 737277 PLAA phospholipase A2-activating protein 9 9 p21 26894518 26937138 - 26903368 26947468 - 1580863;6480464;6907045 9931468;18291623;16344560;15489334;15164053;14702039;14499668;12477932;11937510;11689694;10644453;10571045;8125298;2052621;20574843;19423704;20185149;17076679;21070969;21252943;22863883;16196087;19887378;18781797;20360068;21987572;20972266;21139048;21890473;21906983;22484374;22053931;22505724 9373 E5RIM3;H0YAU9;H0YBW4;H0YC16;Q9Y263 ABBA01065135;AF083395;AF145020;AJ238243;AK001642;AK002143;AK022761;AK223544;AL133608;AL356133;AMYH01019295;BC032551;CH471071;DA591576;NM_001031689 AAD03030;AAD42075;AAH32551;ABW03596;ABW03904;BAA91803;BAA92105;BAD97264;CAB42881;CAB63739;EAW58575;NP_001026859;Q9Y263 Hs.27182 2166904;5015123;5017947;5107753;5109695 AW208417;D9S1061E;D9S1696;MARC_66694-66695:1195518466:3;RH44824 DOA1;FLJ11281;FLJ12699;PLA2P;PLAP DOA1 homolog;OTTHUMP00000021164;OTTHUMP00000226495;phospholipase A-2-activating protein;phospholipase A2 activating protein;phospholipase a2, activating protein protein-coding ENSG00000137055 9043 04850 603873 VALIDATED 1313225 PLAG1 pleiomorphic adenoma gene 1 Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 q12 57236037 57286392 - 57073468 57123859 - 1599086;1580863;6480464;7240710 10029085 9722527;19347935;19266077;18391951;18269579;18059337;17693184;17332914;16736500;16344560;16108035;15930271;15920557;15642402;15585652;15262430;15231748;15208321;14695992;12477932;11894114;11888928;11882654;10646861;9525740;9268638;9020842;20522588;20546612;10987300;19343178;19396169;19692702;19893584;20189936;20687796;21394649;21927843;22485045;22038920;22192798;22593475;20881960;15174051;23023303 5324 Q6DJT9 A69511;AB209131;ABBA01041763;ABBA01041764;AC107952;AF221550;AK296933;AK313663;AMYH01018735;BC075047;BC075048;CH471068;DA225321;DC347559;EF525168;EF525169;EF525170;NG_023310;NM_001114634;NM_001114635;NM_002655;U65002 AAC50995;AAH75047;AAH75048;ABW87255;ABZ92429;BAD92368;BAG36415;BAG59484;CAB42491;EAW86774;EAW86775;NP_001108106;NP_001108107;NP_002646;Q6DJT9 Hs.14968 1648268;1779138;2113130;2113140;2141751;5093922;5122881;7186343 A009Z02;COL1A2;D8S2308;D8S2313;G33002;RH12848;SGC34502 PSA;SGPA;ZNF912 COL1A2/PLAG1 fusion;OTTHUMP00000226422;OTTHUMP00000226423;OTTHUMP00000226424;Pleomorphic adenoma gene 1;pleiomorphic adenoma gene 1 protein;zinc finger protein PLAG1 APPROVED protein-coding ENSG00000181690 9045 04321 181030;603026 REVIEWED 1315403 PLAC9 placenta-specific 9 10 10 10 q22.3 75883196 75895722 + 81882238 81894766 + 81892258 81904784 + 6480464 12477932;15489334;15164054;12758124 219348 Q5JTB4;Q5JTB5;Q5JTB6 ABBA01003809;ABBA01003810;AL356095;AMYH01002882;BC066348;BC090922;BC117332;BC117334;CH471142;NM_001012973 AAH66348;AAH90922;AAI17333;AAI17335;ABZ92525;ADR82783;EAW80406;EAW80407;EAW80408;NP_001012991;Q5JTB6 Hs.204947 1653603 RH46465 MGC104710 OTTHUMP00000019946;OTTHUMP00000019947;OTTHUMP00000019948;placenta-specific protein 9 protein-coding 19255 18491 612857 PROVISIONAL 1346755 PLB1 phospholipase B1 2 2 2 p23.2 28563939 28712193 + 28572486 28720117 + 28718938 28866654 + 737633;6480464;6484679;6903951;6907045 12477932;21718801;8117729 12804600;14702039;12150957;15583024;8017323 151056 B2RWP8;C9JYQ2;H7BYX7;H7BZW4;H7C012;H7C1D3;H7C2A5;Q6P1J6 ABBA01045236;ABBA01045237;AC074011;AC093164;AK055428;AMYH01010204;AX492941;BC042674;BC065041;BC150633;BC153864;BX109719;CH471053;NM_001170585;NM_153021 AAH42674;AAH65041;AAI50634;AAI53865;AAY24081;AAY24082;BAB70920;EAX00532;EAX00533;EAX00534;EAX00535;EAX00536;NP_001164056;NP_694566;Q6P1J6 Hs.444933 1684309 RH92190 PLB;PLB/LIP;hPLB OTTHUMP00000200975;OTTHUMP00000214100;lysophospholipase;phospholipase A2;phospholipase B;phospholipase B/lipase;phospholipase B1, membrane-associated protein-coding ENSG00000163803 30041 15141 610179 VALIDATED 736872 PLAGL1 pleiomorphic adenoma gene-like 1 This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010] 6 6 q24-q25 144303130 144427428 - 144261437 144385735 - 1580863;6480464;7240710 15888725;9184226;9671765;15888726;19155788;18663001;18644983;17805016;17341487;17178896;16928428;16873690;16809786;16733217;16344560;16179495;16112421;15592663;15581945;15286800;15231748;14702039;12529403;12477932;12473647;11935319;11360197;11313869;10655556;10597250;9722527;9158001;9150364;20518900;19423711;19694203;20097304;20175198;20363751;20487506;20301706;22784302;21305342;23415968;21872827;22001409;22227369;17336575;21963094;23153226;23295672;15208321 5325 A1YLA1;A1YLA2;Q5TFH3;Q96JR9 ABBA01025742;ABBA01025743;AI741398;AJ006354;AJ303119;AJ311395;AK091707;AK096331;AK314570;AK315184;AL031390;AL049844;AL109755;AMYH01016723;BC074814;BC109085;BC109086;BX537397;CH471051;CQ834142;CQ834144;CR749329;DA391124;DA426770;DA446007;DA549753;DA595200;DA991276;EF100438;EF100439;EF100440;EF100441;EF100442;EF100443;EF100444;EF100445;EF100446;EF100447;EF100448;EF100449;EF100450;EF100451;EF100452;NG_009384;NM_001080951;NM_001080952;NM_001080953;NM_001080954;NM_001080955;NM_001080956;NM_002656;NM_006718;U72621;U81992 AAB67041;AAC34250;AAH74814;AAI09086;AAI09087;ABM54075;ABM54076;ABM54077;ABM54078;ABM54079;ABM54080;ABM54081;ABM54082;ABM54083;ABM54084;ABM54085;ABM54086;ABM54087;ABM54088;ABM54089;BAG37151;BAG37625;CAA06994;CAC39614;CAC39615;CAD97639;CAH05286;CAH05287;CAH18183;EAW47852;EAW47853;EAW47854;EAW47855;EAW47856;NP_001074420;NP_001074421;NP_001074422;NP_001074423;NP_001074424;NP_001074425;NP_002647;NP_006709;Q9UM63 Hs.743225 1658721;1661363;1661365;1669260;1694632;1705814;1731122;1751069;2130580;2132466;2177894;2183343;2217760 A001Z41;AL021864;D6S355;G19829;G43356;HSC2SH082;PLAGL1_3285;RH18258;RH46851;RH69222;SHGC-105025;SHGC-79847;WI-11634 DKFZp781P1017;LOT1;MGC126275;MGC126276;ZAC;ZAC1 LOT-1;OTTHUMP00000017344;OTTHUMP00000017345;OTTHUMP00000017346;OTTHUMP00000017347;OTTHUMP00000017348;PLAG-like 1;ZAC tumor supressor;lost on transformation 1;pleiomorphic adenoma gene-like protein 1;pleiomorphic adenoma-like protein 1;tumor suppressor ZAC;tumor supressor ZAC;zinc finger protein PLAGL1 APPROVED protein-coding ENSG00000118495 9046 16010 601410;603044 REVIEWED 1317514 PLAGL2 pleiomorphic adenoma gene-like 2 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008] 20 20 q11.21 30243968 30259207 - 30780307 30795546 - 1580863;6480464 9722527;18029348;18655774;17950244;17618602;17551969;17462995;15585652;15489334;15361364;12477932;11780052;11498794;8724849;19574421;20025940;20379614;20478531;22076304 5326 Q9UPG8 ABBA01019280;AF006005;AK026951;AK292450;AL121897;AMYH01011838;BC023655;CH471077;CQ834146;D83784;HI574214;NM_002657 AAC34252;AAH23655;ABM83213;ABW03483;BAA12113;BAF85139;CAH05288;CBX47596;EAW76386;EAW76387;NP_002648;Q9UPG8 Hs.154104 1720867;1797994;2173811 G59261;PLAGL2_1372;RH25411 FLJ23283;ZNF900 C2H2-type zinc finger protein;OTTHUMP00000030585;pleiomorphic adenoma-like protein 2;zinc finger protein PLAGL2 APPROVED protein-coding ENSG00000126003 9047 05333 604866 REVIEWED 6481050 PLCB1-IT1 PLCB1 intronic transcript 1 (non-protein coding) 100874337 AL021406 miscrna 41414 735727 PLAU plasminogen activator, urokinase This gene encodes a serine protease involved in degradation of the extracellular matrix and possibly tumor cell migration and proliferation. A specific polymorphism in this gene may be associated with late-onset Alzheimer's disease and also with decreased affinity for fibrin-binding. This protein converts plasminogen to plasmin by specific cleavage of an Arg-Val bond in plasminogen. Plasmin in turn cleaves this protein at a Lys-Ile bond to form a two-chain derivative in which a single disulfide bond connects the amino-terminal A-chain to the catalytically active, carboxy-terminal B-chain. This two-chain derivative is also called HMW-uPA (high molecular weight uPA). HMW-uPA can be further processed into LMW-uPA (low molecular weight uPA) by cleavage of chain A into a short chain A (A1) and an amino-terminal fragment. LMW-uPA is proteolytically active but does not bind to the uPA receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 10 10 q22.2 75340896 75347261 + 75670862 75677259 + 1580895;1580896;1580863;4891955;4892055;4891938;4892037;4143526;4892109;6480464;6484139;2317516;6483831;6484215;6484131;6484115;6483790;6484140;6484145;6483805;6483806;6484141;6483809;6484146;6484124;6484123;6483794;6483810;6483795;6483802;6483801;6483822;6483808;6483816;6483821;6483830;6484133;6484127;6484129;6483803;6484126;6483796;6483797;6484113;6483793;6484134;6483798;6483827;6483826;5147760;6483807;6483828;6907045;7241140;7241268;7240710;7241081;7241082;6903200;7241134;7241138;7241146;7241142;7241144;7241204;7241205;7241206;7241213;7241218;7241259;7241260;7241261;7241264;7241279;1580123;7241280;7241552;7241553;7241556;7241558;7241584;7241585;7241591;2325698;7241795;7241798;7241800;7241801;7241803;7241805;7241809;2316117;7241133;7241544;7241262;4144867;7241201;7241203 15231498;15262029;20304453;20937265;21219633;18519237;19099788;17994220;18571586;16958060;18467699;17040480;21779364;18076107;22293605;18052026;17653104;20026272;19926968;18022622;19628656;17651644;20584616;20646237;21790972;19527776;21786025;20798533;20973954;19153874;19663807;19459212;19416247;18586014;20952728;20466854;20142364;20624254;20518747;21711960;21573723;21860091;20035854;18716863;18718505;21473829;19889475;18691743;14531820;15882265;22683425;22296682;22119245;12866027;19690163;15356878;18240004;16825821;7516275;15631996;12376355;18336603;17869326;16387096;7604873;2054790;10024688;15506291;15322501;15191676;23324284;23018346;22300381;22160250;21375013;21151668;20606645;20016209;19952306;22702340;19615318;19500378;19246678;19214512;18998460;19587273;20544684;23327706;3884145;19010488;17706748;15096455 21219832;17986506;17974965;17949787;17934860;17923479;17921261;17880283;17877801;17709546;17681345;17661167;17657740;17654528;17649957;17638874;17611702;17601350;17581316;17559626;17549401;17548050;17545513;17532189;17523079;17458906;17363771;17344041;17331567;17299841;17299802;17264329;17258797;17240317;17233842;17203182;17203175;17192053;17187779;17174555;17159381;17083312;17080225;17029796;17013094;16967469;16949925;16908524;16858643;16855359;16825285;16807059;16806969;16794252;16761300;16728704;16685447;16685436;16632475;16604464;16601839;16547007;16525631;16509805;16504015;16461772;16459332;16456079;16267271;16236890;16127174;16113755;16102112;16077991;16008557;15996887;15988036;15944400;15937335;15927351;15886816;15885322;15881651;15880258;15868845;15854129;15849510;15831288;15750768;15728176;15653692;15646834;15629242;15616835;15615772;15558716;15515049;15494526;15489334;15375521;15371454;15326109;10749881;6589620;2544876;19536843;19526059;19490101;19475533;19436306;19394555;19232508;19177205;19176991;19147749;19133257;19132247;19123477;19117638;19115132;19102416;19101688;19097143;19088796;19029443;19020551;18997817;18988861;18977241;18954937;18949356;18940913;18824154;18714186;18600101;18599586;18570153;18511987;18491991;18466392;18439850;18436804;18390474;18376415;18376307;18362146;18355442;18337556;18331597;18321763;18239069;18237545;18208536;18202522;18196271;18193533;18177545;18076013;18053985;18048089;12084931;12041678;12023847;12008951;11956327;11930938;11928818;11928816;11928812;11928809;11928807;11928806;11906036;11880102;11876553;11858184;11827968;11805108;11751384;11501527;11394884;11384978;11266465;11023511;10996659;10962009;10805774;10788498;10636902;10505055;10362070;10361124;10221568;9824347;9766559;9680361;9566979;9516128;9365930;9194591;9151681;9143604;9065988;8895530;8652631;8591045;8428004;8388810;8344937;8270642;8227186;8107091;8033079;7867716;7721771;7592875;7559792;7548163;6754572;6754569;6749491;15243126;15217951;15210852;15149885;15083890;15067375;14983227;14983219;14769799;14747469;14744782;14704150;14681909;14644829;14597629;14534291;14517288;14507113;12960238;12941043;12930304;12926141;12898287;12883725;12881310;12832381;12773490;12771144;12764090;12754271;12743986;12736046;12719789;12719778;12708473;12704669;12684636;12642587;12576295;12574820;12556966;12529357;12477932;12477728;12430175;12393547;12377770;12353084;12236587;12218297;12183060;12174885;12167592;12161038;12152683;12149463;12115506;4226004;3933505;3920216;3888571;3840278;3090045;3031025;3023326;2987867;2829380;2752144;2536903;1499567;1334458;1327118;134998;14982725;8676469;10402467;2551064;9184208;2415429;2166055;2161846;2023947;1900515;1551416;16879932;22707264;22354580;22467324;21174062;20931209;20403162;19913121;20565774;20628086;20628624;20673868;20740581;19826838;21199867;20651370;20039121;20204407;20805979;20337595;20097831;20645833;20445443;16385451;17222367;17327908;17355798;18478929;18835034;19272641;19403319;19497963;19513384;19546228;19616049;19693769;19701247;19703758;19723042;19729488;19730683;19735728;19740518;19776673;19845941;19903858;20007542;20015050;20036101;20043086;20051950;20052287;20198323;20452482;8837777;21163940;23169000;17634019;21242962;18788551;21076612;18257282;19157142;21181094;16836076;21316840;20369484;21106716;23350235;10340997;20693403;21709151;21574189;21426933;21669207;21744990;22927998;21913037;23064953;3501295;21071923;21104439;21627387;20708412;21858104;22199285;21670079;19298527;21761413;21965736;21833477;22470492;22684547;23392805;23661758;22004682;22102275;22575880;21988832;23322578;22166006;22294827;20301340;21567400;21819230;21989445;22280367;22291969;21798735;22177802;22994764;22797919;22035541;14696115;22797075;23059760;22906080 5328 E7ESM2;E7ET40;P00749;Q59GZ8 A18397;A21571;A35395;AB208961;ABBA01020302;AF377330;AK297940;AK298560;AK312960;AL596247;AMYH01002833;AW316981;AY029537;AY820134;BC013575;BI759308;BI833559;BQ920793;BT007391;BX360462;CB959931;CH471083;CS123918;D00244;D11143;DC349055;HI573980;K02286;K03027;K03226;M15476;NG_011904;NM_001145031;NM_002658;X02419;X02760;Z36790 AAA61252;AAA61253;AAA61257;AAC97138;AAH13575;AAK38734;AAK53822;AAP36055;AAV70488;ABM84743;BAA00175;BAA01919;BAD92198;BAG35799;BAG60256;BAG60754;CAA01390;CAA01559;CAA02215;CAA26268;CAA26535;CAJ18774;CBX47479;EAW54544;EAW54545;NP_001138503;NP_002649;P00749 Hs.77274 1677941;1741587;1793546;2108871;5108156;5491394 GDB:181547;PLAU;PLAU_226;PMC229370P1;RH92165;SHGC-31374 ATF;BDPLT5;QPD;UPA;URK;u-PA OTTHUMP00000019849;OTTHUMP00000019850;OTTHUMP00000019851;U-plasminogen activator;plasminogen activator, urinary;urokinase-type plasminogen activator APPROVED protein-coding ENSG00000122861 9052 01883 104300;191840;601709 REVIEWED 6481143 PLCB2-AS1 PLCB2 antisense RNA 1 100874186 AC020658 APPROVED miscrna 43662 736468 PLAT plasminogen activator, tissue This gene encodes tissue-type plasminogen activator, a secreted serine protease which converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. Tissue-type plasminogen activator is synthesized as a single chain which is cleaved by plasmin to a two chain disulfide linked protein. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding; decreased activity leads to hypofibrinolysis which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 p12 42151393 42184351 - 42032236 42065194 - 1580875;1580876;1580877;1580878;1580879;1580880;1580881;1580863;2311666;2311667;2311668;2311669;2311670;2311671;2311663;2311673;2311674;2311675;2311676;2311665;2311664;2311672;2311677;6480464;6484139;6484215;6483826;6483827;6483831;6484134;6907045;7240710 15882815;14512838;16320350;15976969;16179568;15846799;11848437;17689411;17636064;17259140;17275886;16724515;16598198;18945481;15901895;15223382;14693179;14652638;18235054;18249307;16038272;12818410;18571586;17040480;18718505;18716863;18467699;20035854 3087818;18029348;2503541;2962641;19527514;19526059;19356953;19238444;19222708;19176991;19171142;19116134;19088796;19061349;19019335;18983502;18977990;18974842;18953568;18922856;18818748;18720901;18714030;18690354;18662099;18629628;18574075;18541262;18468424;18449420;18419748;18321860;18202522;18194423;18057060;18037995;18029284;18023202;17986506;15080889;15031453;15016824;14983221;14759258;14746139;14697941;14630788;14608053;14592829;14529669;14500731;12941043;12913003;12891381;12794725;12727218;12726991;12719778;12719777;12694198;12643326;12589088;12544772;12544724;12524082;12484521;12477932;12468767;12468550;12445472;12390834;12354288;12228252;12167592;12123488;12090757;12023848;11988309;11986218;11978811;11963567;11928826;11928812;11864708;11864703;11858184;11816707;11734664;11734662;11507973;11450845;11385207;11384978;11371191;11170397;10956663;10632583;17934860;17689414;17681507;17661167;17649957;17608581;17473573;17458906;17419735;17408411;17320454;17287634;17264956;17257155;17207964;17151781;17145060;17064755;17003923;16953275;16879221;16839347;16836660;16828203;16733850;16706993;16614319;16466010;16410064;16385091;16369808;16356191;16344560;16248996;16113755;16015279;15916851;15869598;15861134;15721275;15652516;15629242;15550028;15542697;15541709;15489334;15448144;15269833;15140132;15119966;15116264;15109703;21314733;9988531;9434908;9359841;9305622;9268299;8613982;8607113;8533091;8366113;8360181;7876253;7721771;7586269;7582899;6682760;6572897;6538515;6538514;6433976;6337343;6089198;3896853;3161893;3133640;3126346;3103680;21900343;3090401;3090045;3088041;3009482;2838384;2745554;2558718;2551064;2513186;2496749;2110366;2107528;2107490;1930175;1909331;1901789;1900431;1783394;1762144;1645336;1602484;1502153;1368681;1310033;1301152;10543954;22610100;19492158;19913121;20628086;20628624;20673868;21174002;20500107;20140262;21034162;21082259;20097831;19538480;20409678;20686427;20445443;15207811;15466927;16037259;1632457;1695900;18289715;18331597;18472001;18647223;19085655;19217651;19257978;19290852;19483400;19513384;19578796;19698976;19718485;19730683;19874473;19929406;19948975;20217999;20218002;20447686;20452482;20472470;20508517;8508955;21414238;20845058;20838737;22957978;21158116;22787391;23326456;23161549;21304999;21576385;20811636;21437359;21501649;22771216;21282301;21392255;21791417;10340997;22027013;21898905;22037173;22104068;22178875;22187433;22240314;21868730;22577291;22778398;23082219;23118500;23306318;22035541;23117722 5327 B4DN26;B4DNJ1;E5RGA1;E5RHG4;E7ESF4;H0YBH9;K4DI88;Q9BU99 A01465;A03776;A07197;ABBA01021151;AC083973;AC103724;AF260825;AK289387;AK290575;AK297738;AK297937;AK299205;AK300984;AK313342;AMYH01018678;AY221101;AY291060;BC002795;BC007231;BC013968;BC018636;BC095403;BT007060;BX641021;CH471080;CS123925;CS417360;D01096;DA031108;DA549782;FM956488;K03021;L00153;M11890;M15518;M18182;NG_023264;NM_000930;NM_033011;V00570;X02901;X07393;X13097;X77531 AAA36800;AAA60111;AAA61213;AAA98809;AAB59510;AAH02795;AAH07231;AAH13968;AAH18636;AAH95403;AAK11956;AAO34406;AAP34246;AAP35709;ABM84425;ABM87486;ACE86435;ACE87110;BAA00881;BAF82076;BAF83264;BAG36145;BAG60088;BAG60253;BAG61245;BAG62604;CAA00166;CAA00299;CAA00642;CAA23833;CAA30302;CAA31489;CAA54669;CAI46259;CAJ18783;CAL48222;CAX11668;EAW63231;EAW63232;EAW63233;EAW63234;EAW63235;NP_000921;NP_127509;P00750 Hs.491582 1684904;1740953;1741837;1741839;1741867;1744095;1797996;2163493;2167835 D2S2567;GDB:176412;GDB:185497;GDB:185498;GDB:186200;GDB:386840;NIB234;PLAT_65.3;RH40525 DKFZp686I03148;T-PA;TPA OTTHUMP00000225783;OTTHUMP00000225784;OTTHUMP00000225785;OTTHUMP00000225786;OTTHUMP00000225787;OTTHUMP00000225788;alteplase;plasminogen activator, tissue type;reteplase;t-plasminogen activator;tissue plasminogen activator (t-PA);tissue-type plasminogen activator APPROVED protein-coding ENSG00000104368 9051 01419 173370;612348 REVIEWED 735638 PLAUR plasminogen activator, urokinase receptor This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008] 19 19 q13 48842088 48866342 - 44150247 44174498 - 1580897;1580863;6480464;6483789;6484121;6483804;6483806;6484122;6484118;6483810;6484129;6483796;6484116;6483791;6483820;6483799;6483829;6484128;6483800;6484119;6483816;6483797;6483813;6483787;6483788;6484146;6484113;6484133;6483792;6484114;6484120;6483828;6483832;6484117;6907045 12393744;22550400;21372607;20138161;19926968;20693875;21971819;19527776;20142364;21711960;22119508;19435793;21332843;18606671;20229356;21114432;21722073;19459212;21573723;19461880;1304722;22577342;17651644;20952728;22050462;18197443;21384094;18691743;18359089;22011479 18095109;21934527;19088796;19050704;19037107;19020743;19008962;18957516;18954937;18953252;18949356;18941116;18940913;18819934;18813852;18813792;18808175;18762175;18725541;18718938;18673553;18644795;18599586;18511987;18508599;18508598;18487955;18376415;18362146;18328568;18247343;18097558;1689240;8392005;14688365;1846368;10749881;12493773;8049431;2544876;19497996;19480010;19475533;19472211;19443353;19443020;19436306;19435784;19433314;19411312;19404710;19177204;19176991;19123477;19117638;19115132;21478092;16879932;22732587;18084301;18056417;18048089;18029284;18021410;17963689;17952591;17880283;17706320;17664334;17549401;17548516;17548471;17523079;17517866;17510314;17507651;17487556;17427199;17344041;17330942;17319000;17297470;17264329;17237151;17145753;17101149;17079488;17028265;17001307;16949925;16912170;16905120;16893520;16858643;16756681;16685436;16632475;16602701;16601839;16564525;16525631;16516155;16510444;16504015;16497155;16467878;16456079;16395714;16267271;16216813;16127174;16077991;16010978;15951330;15922359;15894933;15885322;15866865;15863511;15861141;15851910;15849776;15841307;15831288;15824107;15728176;15711734;15684035;15677461;15573379;15543615;15521066;15515049;15494526;15494432;15489334;15381392;15375521;15358545;15326109;15302576;15285727;15248186;15243126;15188055;15122709;15057824;15044324;15042374;15032076;15031672;15031282;14995994;14961171;14764580;14764427;14729600;14702177;14660675;14602715;14601049;14563447;14531820;14520707;14517339;14517288;14507113;14500474;12960238;12952933;12933356;12881310;12761227;12736046;12708473;12704669;12665524;12665127;12479856;12477932;12405290;12393547;12376466;12297505;12244126;12195704;12194987;12180971;12174885;12138365;12130664;12124797;12115506;12084931;12070711;12023847;12023845;12017319;11959893;11928822;11928816;11928807;11928806;11903048;11814408;11756447;11728456;11501527;11384978;11359936;11290596;11097855;11051819;10744708;10722370;10636902;10537314;9974409;9417082;9353320;9030717;8830783;8394346;7605992;7566098;3031025;3023326;2156852;1325912;1324136;1316922;1311495;9566979;16169070;10388537;15889147;20403162;21224999;19913121;20063318;20558828;20628086;20628624;20673868;20696135;20661471;20805979;15182581;17327908;18315930;18830568;19383607;19403319;19546228;19609941;19616049;19635932;19638192;19642359;19691446;19693769;19717562;19740518;19756998;19782465;19796867;19878584;19908229;20051950;20145038;20198323;20237496;20447686;20452482;20518747;21148633;20840675;20012874;20372789;20624254;20580686;20140262;20937265;20967855;18257282;19157142;21181094;21456072;21470685;18788551;20648659;20858596;21060833;21081472;21804539;21304107;21602447;21088115;21106094;20886176;21106716;23138488;23150653;22782499;21354571;21419107;21544310;21426933;21391216;22025616;22906080;21744990;22633212;22939629;20972812;21945852;21191179;21630091;22199285;21803847;19017363;19298527;21761413;21896743;20635136;21799009;22470492;21833477;21848504;23033975;23327926;22467324;21470667;21702998;22004682;22075245;22287577;22896701;21840777;22098627;22298164;22363796;22139533;22177802;23503679;23541763;23049759;23172421;23400595;23486467;21638078;23076139;23030781;23180655;23222817;22702340;22984561;22113150;22366462;22487523;23117033;23222509;23667902;23136192 5329 M0QX27;M0QYR6;M0QYS6;M0R0H5;M0R0L1;M0R0Y4;M0R1I2;M0R2E9;M0R383;Q9UD69 A18757;AA337688;AA643630;ABBA01040865;ABBA01040866;AC005525;AC006953;AF257789;AI801128;AI912302;AK290774;AMYH01009840;AY029180;AY194849;AY620435;AY620436;AY620437;BC002788;CA495321;CD370232;CH471126;CR456952;CS615284;M83246;NG_032898;NM_001005376;NM_001005377;NM_002659;S78532;U08839;U09346;U09347;U09937;X51675;X74039 AAA17978;AAA17979;AAA59862;AAB60333;AAB60690;AAC32739;AAD14289;AAD17387;AAD17388;AAD17389;AAF71751;AAH02788;AAK31795;AAN86351;AAT52166;AAT52167;AAT52168;ABM83943;ABM87261;BAF83463;CAA01421;CAA35981;CAA52191;CAG33233;CAO02271;EAW57215;EAW57216;EAW57217;EAW57218;EAW57219;EAW57220;NP_001005376;NP_001005377;NP_002650;Q03405 Hs.466871 1338187;1658758;1759595;2117672;2136148;2159990;2217762;5117769 D19S649E;D19S832;D19S900;GDB:604568;PLAUR_3333;RH11533;SHGC-12380;SHGC-150938 CD87;U-PAR;UPAR;URKR U-PAR;monocyte activation antigen Mo3;u-plasminogen activator receptor form 2;urokinase plasminogen activator surface receptor;urokinase-type plasminogen activator (uPA) receptor APPROVED protein-coding ENSG00000011422 9053 01421 173391 REVIEWED 1605619 PLBD1 phospholipase B domain containing 1 12 12 12 p13.1 19801692 19865899 - 14547864 14612058 - 14656597 14720791 - 6480464 19019078;15193148;12477932;8125298;21674799;21832049;21139048;22952603 79887 F5GYQ3;F5H053;Q6P4A8 ABBA01067877;ABBA01067878;ABBA01067879;ABBA01067880;AC008114;AI370813;AK026315;AK225458;AK290914;AMYH01004301;AMYH01004302;BC000909;BC063561;BQ721063;BU859334;CB993231;CD366142;CH471094;NM_024829 AAH00909;AAH63561;BAB15442;BAF83603;EAW96322;EAW96323;NP_079105;Q6P4A8 Hs.131933 1669088;1721393;1726049;1847311;2143649 G59698;G62280;RH44723;RH46549;SHGC-33769 FLJ22662 LAMA-like protein 1;OTTHUMP00000239536;PLB homolog 1;lamina ancestor homolog 1;phospholipase B domain-containing protein 1;phospholipase B-like 1;putative phospholipase B-like 1 protein-coding 26215 08660 VALIDATED 1606689 PLBD2 phospholipase B domain containing 2 12 12 12 q24.13 113423600 113454718 + 112280761 112311584 + 113796371 113827458 + 6480464 17105447;15193148;15146197;12477932;21628590;22939629;21906983 196463 F5H5E2;H0YIX0;Q8NHP8 ABBA01019957;ABBA01019958;AC010178;AMYH01004761;BC030618;CH471054;CN412955;NM_001159727;NM_173542 AAH30618;EAW98052;EAW98053;NP_001153199;NP_775813;Q8NHP8 Hs.115896 1683601;2160118 RH94379;WI-21995 P76 76 kDa protein;LAMA-like protein 2;OTTHUMP00000241557;OTTHUMP00000241558;PLB homolog 2;lamina ancestor homolog 2;mannose-6-phosphate protein associated protein p76;phospholipase B domain-containing protein 2;phospholipase B-like 2 32 kDa form;phospholipase B-like 2 45 kDa form;putative phospholipase B-like 2 protein-coding ENSG00000151176 27283 14116 VALIDATED 732409 PLCB2 phospholipase C, beta 2 15 15 q15 38367390 38387466 - 40580098 40600174 - 1300048;1580863;737745;1302588;5131495;5131502;6480464;6484113;6907045 10669417;12581520;11395409;17524618 1644792;7649993;19089657;18832656;17497434;17478077;17429106;16525635;16344560;15939402;15611108;15509571;15274049;14702039;12761218;12657629;12482669;12477932;12388553;12054652;12050180;12033943;11753430;11118617;10980202;10843712;10501179;9925923;9730685;9723859;9278385;7589147;1979339;11941371;15623527;19913121;20628086;20660057;20677014;1322796;14968112;19525236;20007712;20056178;2841328;20530480;22905097;21940795;22728827;21890473;21926974;15641770;18632858;20336759;20842205 5330 B9EGH5;H0YK35;H0YKR9;H0YNI4;Q00722;Q59F77;Q9BVT6 AB209583;ABBA01038454;ABBA01038455;AC020658;AK095454;AK130831;AK291657;AMYH01006559;BC000939;BC009009;BC136467;BT006905;BU147302;CH471125;DA981116;M95678;NM_004573 AAA36453;AAH00939;AAH09009;AAI36468;AAP35551;BAC85441;BAD92820;BAF84346;EAW92402;EAW92403;NP_004564;Q00722 Hs.355888 1338535;1672689;1784762;1796522;2116872;2180335;2191143 D15S1327;D15S994;G15920;MARC_15317-15318:1017258886:1;PLCB2_382;SHGC-154601;SHGC-30151 FLJ38135 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-2;PLC-beta-2;phosphoinositide phospholipase C-beta-2;phospholipase C-beta-2 protein-coding ENSG00000137841 9055 04985 604114 VALIDATED 733094 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 p12 8061296 8813547 + 8113296 8865547 + 1581031;1300048;1580863;2314514;5131495;5131502;6480464;6484113;6907045;7240710 15240149;9521338;11395409;17524618 22459146;18649358;18203956;17620288;17393430;17363325;17335878;17041247;16916647;16860758;16136505;15782111;15623527;15489334;15085153;14702039;12821674;12482669;12477932;12213492;12193606;12168954;11941371;11880496;11780052;11753430;11481231;11118617;10760467;2841328;9198220;19240061;19114693;18957514;18692062;11287604;11278470;11148035;10980202;10843712;10501179;9730685;9651375;9628581;9278385;8878798;7589147;1979339;12799190;1322796;15611108;19491339;19519170;19729020;19734545;20056178;20171262;20379614;20936779;11743656;8872139;9500449;22664479;21091263;23518928;21338571;22939629;8889548;23058275;23659438;21663700;21139048;22076473;23006664;22286107;22507702;22690784;22889834;23263487;18632858;20336759;20125193 23236 B1AK73;H0YCJ2;Q8IV91;Q8IV92;Q9BQW2 AB011153;ABBA01053921;ABBA01053922;ABBA01053923;ABBA01053924;ABBA01053925;ABBA01053926;AJ278313;AJ278314;AK023689;AK127693;AK299195;AK310597;AL021406;AL031655;AL031683;AL034551;AL049593;AL049632;AL050315;AL050319;AL050323;AL121589;AL137267;AL365212;AMYH01011701;AMYH01011702;AMYH01011703;AMYH01011704;AMYH01011705;AY004175;BC069420;BC117231;BQ184058;CH471133;HB877222;HB895856;HC934631;HC953265;NG_028168;NM_015192;NM_182734 AAF86613;AAH69420;AAI17232;ADR83291;BAA25507;BAB14641;BAG54550;BAG61238;CAB70666;CAB98142;CAB98143;CBF62960;CBF74720;CBU87836;CBU96783;EAX10372;EAX10373;EAX10374;EAX10375;EAX10376;NP_056007;NP_877398;Q9NQ66 Hs.431173 1337730;1338506;1341959;1644729;1647680;1649691;1656270;1656376;1659506;1673894;1684447;1695710;1700952;1706494;1708666;1720123;1759627;1767089;1770782;1783060;1796520;1847185;1854481;1858281;2119204;2125880;2129358;2135220;2139298;2148302;2150106;2154139;2158593;2159190;2169059;2180602;7191061;7191063 A006R17;A007B46;AFMa114xe5;AL021622;AL031205;AL031206;D20S177;D20S580E;D20S594E;D20S819;D20S851;D20S879;G18109;PLCB1__1209;RH104103;RH123804;RH48470;RH69828;RH78853;RH92761;SHGC-151239;SHGC-152473;SHGC-81138;SHGC-81474;SHGC-82613;STS-AA009431;WI-17062;WI-17184;Z94354;Z94408;Z94450;Z94569;Z94577;Z94580;Z94672;Z94679 EIEE12;FLJ45792;PI-PLC;PLC-154;PLC-I;PLC154;PLCB1A;PLCB1B 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1;OTTHUMP00000030236;OTTHUMP00000030237;OTTHUMP00000030238;OTTHUMP00000030239;PLC-beta-1;inositoltrisphosphohydrolase;monophosphatidylinositol phosphodiesterase;phosphoinositidase C;phosphoinositide phospholipase C-beta-1;phospholipase C-I;phospholipase C-beta-1;triphosphoinositide phosphodiesterase APPROVED protein-coding ENSG00000182621 15917 06177 607120;613722 REVIEWED 731269 PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 11 11 q13 63775698 63791604 + 64018995 64036924 + 737745;1300048;1580863;737799;2314509;2314514;5131495;5131502;6480464;6484113;6907045 10669417;9883896;15362504;9521338;11395409;17524618 18411281;18322273;17492941;17081983;16763092;15998840;15782111;15302935;14702039;12821674;12482669;11325525;11278298;11178984;15623527;10843712;10748198;10748023;10501179;9730685;9714794;9651375;9278385;7849701;7789993;7612006;7607669;7589147;1333955;1979339;11941371;21266572;19913121;20628086;20966218;12477932;15611108;18316326;19295129;20056178;2841328;21304157;22863883;21411730;21705626;22939629;21139048;21890473;21906983;22728827;18468998;22528496;20336759 5331 Q01970 ABBA01003289;ABBA01003290;ABBA01003291;ABBA01003292;ABBA01003293;ABBA01003294;ABBA01003295;AMYH01003704;AP001453;BC032659;BC041625;BC142681;BC146645;CH471076;HB877074;HB895708;HC934483;HC953117;NM_000932;NM_001184883;U26425;Z16411;Z26649;Z37544 AAA77683;AAH32659;AAI42682;BAG10887;CAA78903;CAA85776;CBF62886;CBF74559;CBU87762;CBU96709;EAW74230;EAW74231;NP_000923;NP_001171812;Q01970 Hs.523761 1649068;1659923;1677174;1683890;1706624;1710092;1777577;1791161;1798308;2125627;5492147 FKBP2;G33075;PLCB3sts2;RH27387;RH27714;SHGC-12383;SHGC-82715;SHGC-83713;VEGFB_2536;WI-14122;fkbp2sts3 FLJ37084 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-3;OTTHUMP00000236934;OTTHUMP00000236935;OTTHUMP00000236936;PLC beta 3;PLC-beta-3;phosphoinositide phospholipase C-beta-3 APPROVED protein-coding 9056 02577 600230 REVIEWED 1322076 PLCD3 phospholipase C, delta 3 This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008] 17 17 q21.31 40544534 40565417 - 43189008 43209891 - 1580863;6480464;6907045 19430483;19329342;16344560;15231748;12477932;11853319;11706040;11500033;10702670;10336610;9799116;9360711;9056492;1979339;12482669;10843712;10501179;9730685;9278385;7589147;19913121;20628086;19344632;20056178;20852445;21139048;21906983;21951552 113026 F5GXC1;H0YGF8;K7EKJ1;K7EMI6;K7EQF2;Q8N3E9 AB075844;ABBA01028328;AC002117;AC142472;AK074240;AL834392;AMYH01008438;BC010668;BC072384;BU621728;CH471178;DA128483;HB877192;HB895826;HC934601;HC953235;NM_133373 AAH10668;AAH72384;BAB85029;BAB85550;CAD39054;CBF62945;CBF74688;CBU87821;CBU96768;EAW51544;EAW51545;EAW51546;EAW51547;NP_588614;Q8N3E9 Hs.380094 2110657;5014051;5015619;5015861;5016478;5022200;5022450;5022578;5024039;5037552;5109281;7185938 D10S16;D10S275;D11S3114;D16S325;D1S1423;D1S1425;D8S2278;D8S2279;GDB:434012;L18426;PLCD3_8123 MGC71172 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3;PLC delta3;PLC-delta-3;phosphoinositide phospholipase C-delta-3;phospholipase C-delta-3 APPROVED protein-coding ENSG00000161714 9061 07146 608795 REVIEWED 1346447 PLCD4 phospholipase C, delta 4 This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011] 2 2 q35 219180876 219210148 + 219472488 219501909 + 6480464;6907045 19086053;17394098;16189514;15140260;15037625;12482669;12477932;11706040;10843712;10702683;10501179;9730685;9278385;8125298;7589147;1979339;14702039;19913121;20628086;15342556;20056178;8381210;21832049;21951552 84812 C9JAE4;C9JEA7;F2Z3H8;H7C237;H7C281;Q9BRC7 AB209599;ABBA01023862;ABBA01023863;ABBA01023864;AC012510;AI914254;AK023083;AK057186;AK223203;AK297808;AK299458;AMYH01011496;AMYH01011497;AY512961;BC006355;BP361394;CH471063;HB877206;HB895840;HC934615;HC953249;NM_032726 AAH06355;AAS82574;ABM86830;ABW03854;BAD92836;BAD96923;BAG60146;BAH13040;CBF62952;CBF74703;CBU87828;CBU96775;EAW70627;EAW70628;EAW70629;NP_116115;Q9BRC7 Hs.632528 1796526;2180199;2180201 PLCD4_1057;RH70482;SHGC-33785 MGC12837 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-4;OTTHUMP00000206571;OTTHUMP00000206572;OTTHUMP00000206573;PLC delta4;PLC-delta-4;hPLCD4;phosphoinositide phospholipase C-delta-4;phospholipase C-delta-4 APPROVED protein-coding ENSG00000115556 9062 07296 605939 REVIEWED 6481380 PLCH1-AS1 PLCH1 antisense RNA 1 100874035 AC012022 APPROVED miscrna 41231 733727 PLCB4 phospholipase C, beta 4 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010] 20 20 p12 9024932 9409463 + 9049701 9461463 + 1300048;1580863;1302587;5131495;5131502;6480464;6907045 12640460;11395409;17524618 16767099;19470168;19086053;17081983;14702039;12482669;12477932;11780052;11329013;10843712;10501179;9730685;9278385;8672127;8530101;7589147;1979339;19913121;20554694;20628086;11118617;1322796;16344560;16461635;19856080;20056178;20172861;20180986;20379614;20398908;2841328;23006664;21139048;21906983;22560091;20336759 5332 B1AJW1;B1AJW2;B1AJW3;B1AJW4;E2QRH8;Q5JYS9;Q9BQW6 ABBA01053926;ABBA01053927;ABBA01053928;AK025027;AK054754;AK057634;AK122699;AK307482;AK307837;AL023805;AL031652;AL117633;AL121898;AL121909;AL844332;AMYH01011706;BC117458;BC143868;BG220268;BI439140;BX648680;CH471133;DB270238;DN913865;DR761451;L41349;NG_032790;NM_000933;NM_001172646;NM_182797 AAB02027;AAI17459;AAI43869;EAX10364;EAX10365;EAX10366;EAX10367;EAX10368;EAX10369;EAX10370;NP_000924;NP_001166117;NP_877949;Q15147 Hs.472101 1334537;1336020;1645585;1673935;1691170;1691648;1691650;1693340;1707222;1709440;1715711;1734188;1747813;1796524;2114028;2122086;2123742;2127413;2134713;2140807;2141004;2175831;2181236;5094234;5126801;7187366 A007F40;AL032538;AL032539;AL034495;D20S175;D20S509;D20S553E;D20S917;G54656;G66788;PLCB4;PLCB4_1395r1;RH119302;RH64140;RH69771;RH70741;RH78037;RH91839;SGC31545;SHGC-30447;SHGC-79198;SHGC-81761;WI-15043;Z94280;Z94361 ARCND2;FLJ16169;PI-PLC 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 4;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4;OTTHUMP00000030245;OTTHUMP00000030250;OTTHUMP00000030255;PLC-beta-4;dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4));inositoltrisphosphohydrolase;monophosphatidylinositol phosphodiesterase;phosphoinositidase C;phosphoinositide phospholipase C;phosphoinositide phospholipase C-beta-4;phospholipase C-beta-4;triphosphoinositide phosphodiesterase APPROVED protein-coding ENSG00000101333 9059 02885 600810;614669 REVIEWED 6481383 PLCH1-AS2 PLCH1 antisense RNA 2 100874036 AC012022 APPROVED miscrna 41232 733331 PLCD1 phospholipase C, delta 1 This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 3 3 p22-p21.3 38023991 38059068 - 38048987 38071154 - 1302551;1580863;1299008;2300431;2300421;2300422;1304368;2300429;2300423;6480464;6907045 12805213;12850505;11181012;17198910;1358065;12623065;15276620;1313006 21665001;18434237;9588182;15702972;19448674;19086053;18006814;17041247;16344560;16240320;15817490;15809301;15509571;15037625;14702039;14550290;12761218;12482669;12477932;11960991;11706040;11336645;10843712;10501179;9730685;9512491;9345909;9278385;9056492;8381210;7890667;7589147;1979339;12805215;15861130;20657189;19913121;20628086;10518533;16115628;19344632;19578796;20018811;20056178;20398908;20530480;22990118;8672127;21832049;21909432;22265909;22576628;23388389;21139048;21906983;22078044;22458588;23000965;23149345;19008404;20336759;21951552 5333 A8K8F9;P51178 AB209862;ABBA01024840;AC144536;AK090774;AK098690;AK127813;AK292324;AMYH01013088;BC050382;BX647927;CH471055;CX164303;DA017409;DA083758;NG_031922;NM_001130964;NM_006225;NR_024071;U09117 AAA73567;AAH50382;BAD93099;BAF85013;BAG52226;BAG54577;CAI46087;EAW64507;NP_001124436;NP_006216;P51178 Hs.80776 1337551;2129398;2159839;2217764;7185231;7186258 D3S1298;PLCD1__2773;SHGC-76834;SHGC-76845 NDNC3;PLC-III 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-1;OTTHUMP00000161383;OTTHUMP00000226936;PLC-III;PLC-delta-1;phosphoinositide phospholipase C-delta-1;phospholipase C-III;phospholipase C-delta-1 APPROVED protein-coding ENSG00000187091 9060 09073 151600;602142 REVIEWED 1346590 PLCH2 phospholipase C, eta 2 PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009] 1 1 1 p36.32 149336 178536 - 2397614 2426824 + 2407754 2436964 + 737633;1580863;6480464 12477932 18361507;16107206;15899900;15583837;9455484;1979339;21297633;20649401;21474938;21906983;23128233 9651 A6NGX9;B9DI81;B9DI82;Q8WUS6 AB007919;ABBA01016096;ABBA01016097;ABBA01016098;AK074149;AK122589;AK122591;AL139246;AL513477;AL513531;AMYH01000175;BC019679;BC037356;BC043358;BC044630;BC050037;BC128207;BC128208;BC144620;CH471183;DQ176850;NM_014638 AAH19679;AAH43358;AAH50037;AAI28208;AAI28209;ABA12209;BAA32295;BAB84975;BAC56930;BAC56932;EAW56101;EAW56102;EAW56103;EAW56104;NP_055453;O75038 Hs.170156 1729456 D1S80 PLC-eta2;PLCL4;PLCeta2;RP3-395M20.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-2;OTTHUMP00000000790;OTTHUMP00000000791;PLC-L4;phosphoinositide phospholipase C-eta-2;phosphoinositide phospholipase C-like 4;phospholipase C-eta-2;phospholipase C-eta2;phospholipase C-like protein 4 APPROVED protein-coding ENSG00000149527 29037 612836 PROVISIONAL 6481349 PLCL2-AS1 PLCL2 antisense RNA 1 100874003 AC091491 APPROVED miscrna 40449 1349228 PLCH1 phospholipase C, eta 1 PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009] 3 3 3 q25.31 153618259 153842073 - 156680365 156796861 - 155197671 155421997 - 737633;6480464 12477932 16344560;15702972;15583837;15345747;14702039;10470851;1979339;19913121;20628086;18029348;21139048;22658813;23382691;20336759 23007 Q4KWH8 AB028992;ABBA01058859;ABBA01058860;AC012022;AC068296;AC132006;AK022610;AK096620;AMYH01013592;AMYH01013593;AMYH01013594;AMYH01013595;AY691170;AY691171;BC043248;BC113950;CH471052;CR749869;DA206803;NM_001130960;NM_001130961;NM_014996 AAH43248;AAI13951;AAW22607;AAW22608;BAA83021;BAB14129;CAH18710;EAW78747;EAW78748;EAW78749;NP_001124432;NP_001124433;NP_055811;Q4KWH8 Hs.567423 1335630;1700438;1735288;1756563;1762699;2109669;2110997;2156280;2174482;2176776;2178516 D3S1492E;D3S1526;D3S2933E;D3S3509;PLCL3_9298;RH103840;SHGC-143594;SHGC-146493;SHGC-53318;SHGC-77479;STS-H67845 DKFZp434C1372;MGC117152;PLCL3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-1;OTTHUMP00000212977;OTTHUMP00000212978;OTTHUMP00000212979;OTTHUMP00000212980;PLC eta 1;PLC-L3;PLC-eta-1;phosphoinositide phospholipase C-eta-1;phospholipase C-eta-1;phospholipase C-eta1a;phospholipase C-eta1b;phospholipase C-like protein 3 APPROVED protein-coding ENSG00000114805 29185 11438 612835 VALIDATED 1606000 PLCE1 phospholipase C, epsilon 1 This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009] 10 10 q23 95743736 96078139 + 95753746 96088149 + 6480464;6907045;7240710 11022048;11022047;17086182;19260473;19037252;18975016;18270750;18065803;17942568;17449496;17373700;16565089;16537651;16483931;16293787;15558028;15164054;15157671;14702039;12878163;12721365;12482669;12477932;12444546;11877431;11715024;11395506;10843712;10819331;10501179;9730685;9278385;7589147;1979339;16169070;21667163;21642993;21658281;18029348;20620593;16385451;20056178;20201926;20379614;20507940;20591883;20677014;20729852;20729853;21368711;21689432;22865593;19875381;22805490;22744421;21685187;21365190;17998205;21705050;21909432;21951843;22001756;21837401;21909110;21909115;22412849;22203178;23079034;20336759 51196 Q5VWL5 AB040949;ABBA01021857;ABBA01021858;ABBA01021859;ABBA01021860;ABBA01021861;ABBA01021862;AF117948;AF170071;AF190642;AK022543;AK074239;AK289852;AK297779;AL139118;AL139124;AL365510;AL389885;AMYH01002964;AY995135;BC140705;BC144286;BC151854;CH471066;NG_015799;NM_001165979;NM_016341 AAF22005;AAG17145;AAG28341;AAI40706;AAI44287;AAI51855;AAY45890;BAA96040;BAB14090;BAF82541;BAG60124;EAW50042;EAW50043;NP_001159451;NP_057425;Q9P212 Hs.655033 1337185;1649472;1650010;1664385;1666580;1673071;1706928;1752601;1757695;1782142;2116507;2131445;2153879;2165894;2182832;2185830;2185832;5015619;5015961;5037552 A006C18;A006P39;CHLC.GGAA2E03;D10S1206;D10S1690;D10S1866;D10S2486;D11S3114;D15S1477;D8S2279;G20699;G35317;RH15689;RH68622;SGC32356;SHGC-106417;SHGC-146273;SHGC-155395;SHGC-80953;STS-N32898 FLJ23659;KIAA1516;MGC167842;NPHS3;PLCE;PPLC 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1;OTTHUMP00000020125;OTTHUMP00000020126;PLC-epsilon-1;pancreas-enriched phospholipase C;phosphoinositide phospholipase C-epsilon-1;phosphoinositide-specific phospholipase C epsilon-1 APPROVED protein-coding ENSG00000138193 17175 07087 608414;610725 REVIEWED 6481210 PLCXD2-AS1 PLCXD2 antisense RNA 1 100874115 AC055748 APPROVED miscrna 41145 733121 PLCL1 phospholipase C-like 1 2 2 q33 198539545 198721293 + 198669426 199014608 + 1580863;6480464 7633416;18997786;18776929;16952428;16344560;15342556;12477932;8818658;19913121;20628086;21102462;21102463;12039952;20030815;21507922;22128345;22219177;21963094;23128233 5334 F8WAR2;H3BUD4;Q15111 ABBA01062490;ABBA01062491;AC011997;AC013478;AC020719;AC092599;AC109589;AK127514;AK302673;AMYH01011391;BC101531;BC111985;BP340710;BX537442;CH471063;D42108;DA193701;DA414853;NM_006226;T87219 AAI01532;AAI11986;AAY14733;BAA07688;BAG63906;CAD97684;EAW70174;NP_006217;Q15111 Hs.153322 1298305;1335319;1340605;1647848;1707714;1739021;1777818;1779192;5096163;7184738 D2S115;D2S1413;D2S1878;D2S202;D2S2318;G11798;SHGC-152743;SHGC-82071;WI-22626 MGC126580;MGC138190;PLCE;PLCL;PLDL1;PRIP 130kda-ins(1,4,5)p3 binding protein;OTTHUMP00000208039;PLC-L1;inactive phospholipase C-like protein 1;phospholipase C related, but catalytically inactive protein;phospholipase C, epsilon;phospholipase C-deleted in lung carcinoma;phospholipase C-related but catalytically inactive protein protein-coding 9063 07041 600597 VALIDATED 735936 PLCG1 phospholipase C, gamma 1 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q12-q13.1 39199575 39237771 + 39766161 39804357 + 1300048;1580863;1302579;2299875;2298729;1642762;2299174;2299877;2299874;6480464;6484113;6907045 11744703;1683701;17658244;14685170;18175071;17612968;9703922 10873601;14722116;7681365;15702972;10350061;11048639;19179337;19086053;19074886;19018007;18594017;12771140;12646582;12601080;12598525;12514734;12507498;12496421;12482669;12454018;12419535;12163161;12085993;12084069;12071848;12061819;11956228;11941371;11886851;11823862;11780052;11779129;11409699;11390650;11390470;11368773;11353454;11312102;11259588;11094073;11071635;11043766;10980614;10940929;10926122;10913276;10899172;10843712;10823839;10783152;10770799;10692392;10652211;10586033;10501179;10488157;10473113;10467411;10455176;10430888;9891995;9743338;9730685;9729044;9712732;9697839;9600074;9535722;9516477;9489702;9398617;9344857;9314836;9299537;9281317;9278385;9231720;9207933;9178760;9174053;9164868;9045685;8995379;8918464;8910519;8905292;8892607;8885868;8672127;8662733;8660853;8657103;8628282;8627166;8596638;8443409;8386518;8384556;8290562;8155326;8084603;7999363;7799925;7761838;7682059;7657612;7629168;7589147;7536744;7535778;7518429;7513258;7512571;7510703;3254788;2167438;1715690;1689310;1676673;1639386;1500851;1383690;9344703;18579528;18467332;18256683;18037957;17991733;17562871;17561467;17561374;17419608;17372230;17336371;17242406;17148460;17130290;17111345;17081983;17023658;16921170;16764945;16341594;15996687;15972651;15953601;15951569;15944397;15872086;15766521;15744307;15654973;15623534;15592455;15563458;15556869;15329338;15270728;15252117;15184383;15161916;15153499;15144186;15123640;15062102;14989173;14702343;14647465;14568990;14523024;13129935;12960351;12937273;12890670;12845332;12788694;9808187;7774645;1979339;18671761;9632142;10391903;12074588;10092678;10708759;9856458;9632636;11960376;9341187;8649391;8824280;8805332;7831290;11507676;9660748;11888936;9846481;9047383;15117958;10022833;14744865;15696170;2176151;2173144;7876130;7689724;7592796;8388538;8890167;12803489;12898421;22837484;20514023;19913121;20232348;20628086;20674545;20872577;20621058;20889506;20510673;10579907;10652257;12477932;14968112;1501243;16153436;16467851;16767099;16938345;17474147;19223396;19570985;19586919;19663908;19681907;19711039;19712589;19805522;19881535;19952372;20011604;20056178;20080774;20379146;2550068;9045636;9234717;22454520;22939629;17229814;18292392;21209106;21087080;15644415;22863883;22974441;22749651;22554284;21242968;21705626;23063587;8977179;21285289;21360263;21986528;15488758;21233200;21139048;21890473;21906983;14978237;16273093;22847294;23000965;23063561;22022282;21798286;22262199;10684856;12941616;16503409;22474331;9756944;18596081;19710135;19915061;20041213;20336759;21176845;21762810;21875593;23061666;9819383 5335 M0QX77;P19174;Q4LE43;Q9UFY1 AB210028;ABBA01052574;AF147391;AK297370;AK309606;AL022394;AL110247;AMYH01011912;BC136466;BC144136;BX415739;BX434193;CH471077;DQ297143;M34667;NM_002660;NM_182811;U80983 AAA36452;AAB70663;AAI36467;AAI44137;ABB84466;BAE06110;BAG59815;CAB53696;EAW75989;EAW75990;EAW75991;EAW75992;EAW75993;NP_002651;NP_877963;P19174 Hs.268177 1648348;1658965;1796528;2118311;2127515;2131449;2191029 D20S529E;G15919;GDB:188616;MARC_13623-13624:1002811759:1;PLCG1_1396;STS-M34667;STS-R76690 NCKAP3;PLC-II;PLC1;PLC148;PLCgamma1 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate;1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-1;OTTHUMP00000031787;OTTHUMP00000178982;PLC-148;PLC-gamma-1;inositoltrisphosphohydrolase;monophosphatidylinositol phosphodiesterase;phosphatidylinositol phospholipase C;phosphoinositidase C;phosphoinositide phospholipase C;phosphoinositide phospholipase C-gamma-1;phospholipase C, gamma 1 (formerly subtype 148);phospholipase C-148;phospholipase C-II;phospholipase C-gamma-1;triphosphoinositide phosphodiesterase 2316052 GLUCO208_H APPROVED protein-coding ENSG00000124181 9065 01398 172420 REVIEWED 1604168 PLCXD3 phosphatidylinositol-specific phospholipase C, X domain containing 3 5 5 5 p13.1 41195619 41399134 - 41342805 41546487 - 41307048 41510730 - 6480464 20379614 345557 B3KXD1;Q63HM9 ABBA01024232;ABBA01024233;ABBA01024234;AC008830;AC020940;AC094082;AK124638;AK127142;AMYH01015049;AMYH01015050;BX501895;BX648329;CS300763;NM_001005473 AAI48399;AAI56735;BAG54443;CAH56150;CAK32427;NP_001005473;Q63HM9 Hs.145404 1334682;1338454;1753985;1785534;1785602;1937086;2132854;2141802;2177318;2184657;7184034;7185673 D5S420;D5S430;REN39380;RH15957;RH65393;SHGC-132014;SHGC-13642;SHGC-154613;SHGC-155321;WI-11188 OTTHUMP00000221184;PI-PLC X domain-containing protein 3 protein-coding ENSG00000182836 31822 17860 VALIDATED 1314267 PLCL2 phospholipase C-like 2 3 3 3 p24.3 16865522 17071160 + 16949586 17107089 + 16974582 17132098 + 6480464 21833088;15231748;14702039;12477932;12421765;10581172;10470851;8889549;19898481;17549794;21399635;21822266 23228 H7C276;Q9UPR0 AB029015;ABBA01025124;ABBA01025125;ABBA01025126;ABBA01025127;AC090943;AC091291;AC091491;AK023546;AK291419;AL117515;AMYH01013003;AMYH01013004;BC036392;CH471055;CQ760209;N93050;NM_001144382;NM_015184 AAH36392;ACE87801;ACT64559;BAA83044;BAB14606;BAF84108;CAB55974;CAF32891;EAW64282;EAW64283;NP_001137854;NP_055999;Q9UPR0 Hs.741267 1699304;1714801;1762757;2109667;2134654;2149346;2155943;2220664 D3S3397;PLCL2_9323;RH103238;RH120067;RH70075;SHGC-146542;SHGC-17248;UniSTS:488216 FLJ13484;KIAA1092;PLCE2 OTTHUMP00000208052;OTTHUMP00000208053;OTTHUMP00000208054;PLC-L(2);PLC-L2;PLC-epsilon-2;inactive phospholipase C-like protein 2;phospholipase C, epsilon 2;phospholipase C-L2;phospholipase C-epsilon-2 protein-coding ENSG00000154822 9064 07147 614276 VALIDATED 732989 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG), using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. [provided by RefSeq, Sep 2011] 16 16 q24.1 80362768 80549400 + 81812899 81991899 + 1300048;1580863;1302581;6480464;6484113;6907045 10933392 15644415;17474147;2841328;9280292;19308021;19086053;18728011;18095154;18022864;18000612;17023658;16249387;16172125;15972651;15953601;15744341;15509800;15489334;15187135;15184383;15144186;14978237;14606067;12813055;12771181;12514734;12482669;12477932;12470302;12359094;12181444;12135708;12093870;12049640;11507676;11507089;11390470;11274146;10933389;10843712;10770799;10706702;10623845;10501179;10469124;10467411;10025672;9819383;9730685;9398617;9278385;8980110;8885868;8395016;8226808;8093016;7835906;7682059;7589147;7578066;2849563;1979339;10981967;17290227;19805522;19965664;20056178;20068106;20086178;20379614;22837484;21245382;21506110;22974441;15342556;11043765;11606584;18784435;22236196;21906983;21822214;15231748;16273093;23382691;20041213;20336759;21762810;21875593;16923831;23000145 5336 H3BMT7;H3BPZ3;H3BQV5;P16885 AB208914;ABBA01016953;ABBA01016954;AC092142;AC098966;AC099524;AK304722;AK310042;AMYH01007855;AW504432;AY364256;BC007565;BC011772;BC014561;BC018646;BP351485;CH471114;M37238;NG_032019;NM_002661;X14034 AAA60112;AAH07565;AAH11772;AAH14561;AAH18646;AAQ76815;ABM84450;ABM87513;BAD92151;BAG65485;CAA32194;EAW95524;EAW95525;EAW95526;NP_002652;P16885 Hs.413111 1745745;1765501;1766173;1768272;1783396;2145894;2161428;2217766;5016468;5109302;5113097 D16S696;GDB:386186;GDB:633458;PLCG2_2749;RH17426;RH65041;RH68327;SHGC-148982;SHGC-149548;SHGC-154149;SHGC-60970 APLAID;FCAS3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-2;PLC-IV;PLC-gamma-2;phosphoinositide phospholipase C-gamma-2;phospholipase C gamma 2;phospholipase C, gamma 2 (phosphatidylyinositol-specific);phospholipase C-IV;phospholipase C-gamma-2;phospholipase c, gamma 2 APPROVED protein-coding ENSG00000197943 9066 02570 600220;614468;614878 REVIEWED 1349595 PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X;Y X;Y p22.33; Yp11.32 820894 846333 - 132991 160020 + 142991 170023 + 1580863;6480464 14702039;16344560;12477932;15772651;19377476;20016163;17207965;21139048;21890473;21906983;19322201;22505724 55344 C9JP92;K7EIC3;Q9NUJ7 ABBA01005329;ABBA01005330;ABBA01005331;AK002185;AK091006;AK097346;AMYH01021950;AMYH01021951;BC000888;BC005028;BC032072;BC033659;BC064136;BU594555;BX000483;BX537334;CH471225;DA052662;DA840761;NG_016868;NM_018390;NR_028057 AAH05028;ADQ32280;BAA92127;EAW66821;EAW66822;NP_060860;Q9NUJ7 Hs.522568 1787454;2177484;5014003;5014051;5014053;5015861;5015869;5016596;5023353;5024039;5024761;5037552;7185938 D10S16;D16S325;D17S1136;D1S3693;D8S2278;D8S2279;D8S467;GDB:313261;GDB:631802;RH36905;RH65138;SHGC-153400 FLJ11323;LL0XNC01-136G2.1 OTTHUMP00000024274;OTTHUMP00000024275;OTTHUMP00000045960;OTTHUMP00000045961;OTTHUMP00000195157;OTTHUMP00000195158;PI-PLC X domain-containing protein 1 APPROVED protein-coding ENSG00000182378 23148 06516 REVIEWED 1345610 PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 3 3 3 q13.2 109793213 109964345 + 112876213 113047984 + 111393523 111565294 + 1580863;6480464 14702039;12477932;20125193;20379614;20677014;21139048;21906983 257068 C9JB87;Q0VAA5 ABBA01061669;ABBA01061670;AC055748;AC117509;AK056141;AK091636;AK095647;AK095735;AL712245;AMYH01013389;BC121155;BC121156;CH471052;CQ859810;CQ859812;NM_001185106;NM_153268 AAI21156;AAI21157;BAB71103;CAH25955;CAH25956;EAW79695;NP_001172035;NP_695000;Q0VAA5 Hs.477114;Hs.603252 1658447;1703924;1704202;1713413;1740079;1764631;2134756;2153479;2164666;2164668;2165347;5093480 A005W42;D3S3500;D3S3823;D3S4152;G20557;G32743;RH119563;SHGC-148219;SHGC-77194;SHGC-77201;SHGC-79831;SHGC-83631 FLJ31579 OTTHUMP00000214648;OTTHUMP00000214649;PI-PLC X domain-containing protein 2 protein-coding ENSG00000240891 26462 07114 VALIDATED 1347399 PLCZ1 phospholipase C, zeta 1 The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 12 12 p12.3 18727383 18782185 - 18836110 18890993 - 1580863;6480464;6907045 21204786;18322275;18003622;17933795;17196844;14702039;12416999;1979339;19913121;20628086;12477932;18924610;22217962;22095789;21896550;22428063;14697805;16344560;19252507;20378416;20397882;20573804;22086556;22633260;22940771;20336759 89869 C9IZ68;F5GYE4;F5GZK3;F5H2D7;F5H2Y6;F5H3L4;F5H474;F5H828;H0YFH9;H0YGH7;H0YGY7;H0YH40;Q86YW0;Q8N7S5;Q8N7X7 ABBA01067924;ABBA01067925;AC087242;AF532185;AK097555;AK097725;AK292279;AK314516;AMYH01004309;AMYH01004310;AY035866;BC125067;CH471094;DB038101;GN053466;HB877168;HB895802;HC007220;HC044839;HC934577;HC953211;HY197954;NM_033123;NR_073075 AAI25068;AAK61372;AAN71895;BAC05099;BAC05152;BAF84968;CAX52143;CBF62933;CBF74664;CBH19415;CBH30749;CBU87809;CBU96756;EAW96388;EAW96389;EAW96390;NP_149114;Q86YW0 Hs.743832;Hs.97542 1683297;2113990 AB070109;RH92603 MGC149685;NYD-SP27;PLC-zeta-1;PLCzeta 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1;1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase zeta-1;OTTHUMP00000239780;OTTHUMP00000239781;OTTHUMP00000239785;PI-phospholipase C zeta 1;PLC-zeta-1;phosphoinositide phospholipase C-zeta-1;phospholipase C-zeta-1;testis-development protein NYD-SP27;testis-development related NYD-SP27 APPROVED protein-coding ENSG00000139151 19218 06996 608075 REVIEWED 1347934 PLD4 phospholipase D family, member 4 14 14 14 q32.33 85445332 85453718 + 104462232 104470618 + 105391187 105399573 + 6480464 16094384;15489334;12975309;12477932;21890473;22446963;23124809 122618 F5H2B5;G3V3J8;G3V472;Q96BZ4 ABBA01008850;AK295352;AK296188;AL512802;AL583810;AMYH01006071;AY358843;BC015003;CH471061;NM_138790 AAH15003;AAQ89202;BAG58319;BAG58918;EAW81887;NP_620145;Q96BZ4 Hs.407101 2191263 MARC_16895-16896:1020711008:1 C14orf175 OTTHUMP00000185555;OTTHUMP00000244366;PLD 4;choline phosphatase 4;chromosome 14 open reading frame 175;phosphatidylcholine-hydrolyzing phospholipase D4;phospholipase D4 protein-coding ENSG00000166428 23792 11230 VALIDATED 1603543 PLD5 phospholipase D family, member 5 1 1 1 q43 215507475 215943236 - 240318895 240754621 - 242251689 242687998 - 6480464 14702039;12477932;20663923;19626040;20379614;21890473;23000965;23251661;23382691 200150 F5GXZ8;F5H329;F8W7H1;J3KP61;Q8N7P1 ABBA01022807;ABBA01022808;ABBA01033271;ABBA01033272;ABBA01033273;ABBA01033274;ABBA01033275;AK091691;AK098092;AK295421;AK307857;AL360271;AL445704;AL583845;AL591686;AMYH01001877;AMYH01001878;AY391836;AY461578;BC101373;BC101374;BC101375;CH471098;DR004966;NM_001195811;NM_001195812;NM_152666 AAI01374;AAI01375;AAI01376;AAS91020;BAC03722;BAC05230;BAH12060;EAW70111;EAW70112;EAW70113;NP_001182740;NP_001182741;NP_689879;Q8N7P1 Hs.672452 1664586;1670646;1674597;1692120;1692180;1700382;1701572;1703372;1716553;1717249;1726387;1735396;1770902;1774457;1848812;2146124;2183094 AL009593;AL009886;AL033725;AL033756;D1S1634;D1S1858E;D1S2467;D1S3380;D1S3409;G62494;RH103811;RH104420;RH121562;RH122039;SHGC-53503;SHGC-68669;SHGC-76605 FLJ40773;MGC120565;MGC120566;MGC120567;PLDC OTTHUMP00000037811;OTTHUMP00000237425;inactive PLD 5;inactive choline phosphatase 5;inactive phosphatidylcholine-hydrolyzing phospholipase D5;inactive phospholipase D5 protein-coding ENSG00000180287 26879 08812 VALIDATED 1602058 PLD6 phospholipase D family, member 6 17 17 17 p11.2 18043902 18049239 - 17045034 17050357 - 17104309 17109646 - 6480464 14702039;12477932;22281006;17028579;21397848;19322201;21890473 201164 B4DHV4;Q8N2A8 ABBA01009768;AC055811;AK090899;AK098419;AK295282;AMYH01008155;BC031263;CH471196;DC326979;NG_008001;NM_178836 AAH31263;BAC03541;BAC05303;BAG58266;EAW55718;NP_849158;Q8N2A8 Hs.729079 1659610;1660560;5022578;5037552 A006Y21;D1S1423;D8S2279;RH78552 ZUC OTTHUMP00000065516;PLD 6;choline phosphatase 6;mitoPLD;mitochondrial cardiolipin hydrolase;mitochondrial phospholipase;phosphatidylcholine-hydrolyzing phospholipase D6;phospholipase D6;protein zucchini homolog protein-coding ENSG00000179598 30447 14126 614960 VALIDATED 70829 PLD1 phospholipase D1, phosphatidylcholine-specific This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011] 3 3 q26 172801339 172938566 - 171318195 171528284 - 1580863;2299910;6480464;6484113;6907045 15330336 8530346;10848592;14718562;19366706;18945966;18694819;18636075;18573349;18569866;16109716;15668389;15489334;15339843;15210717;15067001;14744865;14702039;14646617;14596936;12839565;12813467;12782287;12615079;12593858;12477932;12429840;12388543;12379803;12376551;12149127;12014986;12011045;11950936;11950840;11830497;11821392;11459228;11389680;11373276;11311142;11259428;11032811;10926929;10747870;10441128;10090765;9858822;9761774;9688545;9582313;9565577;9395408;9207251;9013646;10764771;12697812;18550814;18480413;18432522;18344600;18067864;17986621;17853892;17726467;17724165;17640750;17627030;17433303;17130901;17081983;17071135;17069807;16978840;16919239;16873675;16622417;16608858;16517737;16449386;16344560;16341931;16339545;21326806;20158570;17065600;18541525;19487697;19707939;19763255;19994725;20189990;20442281;20188462;20693286;19896495;20231899;20711340;21228924;21113078;22609963;21536681;22824913;23178798;23455922;21760893;21620893;20379614;22024166;21139048;21890473;22457329;23000965;23131846;22718838;16923831;22504301 5337 C9IY79;F8WBV7;H7C0L3;Q13393;Q59EA4 AB209907;ABBA01058663;ABBA01058664;ABBA01058665;ABBA01058666;AC008134;AC078953;AJ276230;AK091897;AMYH01013648;AMYH01013649;AMYH01013650;BC068976;BX648900;CH471052;DA325526;DA464847;NG_029851;NM_001130081;NM_002662;U38545 AAB49031;AAH68976;ADR82735;BAD93144;CAB76564;EAW78480;NP_001123553;NP_002653;Q13393 Hs.382865 1661003;1675043;1707612;1764775;1784736;1797998;1850213;1857778;2126230;2138393;2148311;2158838;2165474;2175859;2176559;5019793 A004G48;A009V13;G32874;HSCZTH032;PLD1_2295;RH45153;RH48111;RH68800;RH77864;SHGC-14202;SHGC-148349;SHGC-154070;SHGC-32810;SHGC-77542;SHGC-77547;SHGC-84621 OTTHUMP00000211094;OTTHUMP00000211117;PLD 1;choline phosphatase 1;hPLD1;phosphatidylcholine-hydrolyzing phospholipase D1;phospholipase D1 APPROVED protein-coding ENSG00000075651 9067 03855 602382 REVIEWED 1317914 PLD3 phospholipase D family, member 3 19 19 19 q13.2 37653871 37683932 + 45546447 45576230 + 40854332 40884390 + 1580863;6480464 15342556;9140189;18095154;16580565;16344560;15794758;15790807;15489334;12477932;9813063;19019082;19525236;20112697;23106098;22863883;21900206;21987572;20972266;21139048;21890473;21906983;22779921;22268729 23646 E2QRD3;E2QRG1;M0QX50;M0QX99;M0QY94;M0QYJ4;M0QZI4;M0QZK2;M0R1F7;M0R2E7;M0R2W7;M0R3G9;Q8IV08 ABBA01040753;ABBA01040754;AC010271;AC118344;AK293690;AMYH01009800;AY927565;BC000553;BC036327;BC096820;BP304863;CH471126;CX785201;DA370667;NM_001031696;NM_012268;U60644 AAB16799;AAH00553;AAH36327;AAH96820;ADZ15402;BAG57127;EAW56950;EAW56951;EAW56952;EAW56953;EAW56954;EAW56955;EAW56956;EAW56957;EAW56958;EAW56959;NP_001026866;NP_036400;Q8IV08 Hs.257008 1687129;1734684;2109671;5491611 D19S687E;D22S1129;MARC_24344-24345:1030116039:1;PLD3_9392 HU-K4;HUK4 OTTHUMP00000202292;OTTHUMP00000202323;OTTHUMP00000202324;OTTHUMP00000202325;OTTHUMP00000202326;PLD 3;choline phosphatase 3;hindIII K4L homolog;phosphatidylcholine-hydrolyzing phospholipase D3 protein-coding ENSG00000105223 17158 07148 VALIDATED 733873 PLD2 phospholipase D2 The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 17 17 p13.1 4657378 4673694 + 4710396 4726727 + 1300048;1580863;2299902;2299908;2299898;2299901;2299910;2299906;2316251;6480464;6484113;6907045 17024567;15601581;11185526;17393174;15330336;15752718;11694350 9582313;17276458;9395408;19366706;19086053;18694819;18625302;18523140;18432522;18423386;18344600;18296444;17986621;17977756;17914593;17640750;17627030;17486117;17486115;16964281;16873675;16824927;16622417;16407827;16381901;16341931;16118212;15919668;15798205;15665518;15548524;15489336;15489334;15282299;15265082;15210717;15052340;15052337;14744865;14718562;14704231;14675200;12782287;12753082;12697812;12646582;12615079;12601529;12519790;12486109;12477932;12446727;12429836;12374567;12149127;11876650;11744693;11741937;11687572;11672434;11373276;11076863;11042115;11032811;11018470;10926929;10801846;10764771;10675563;9858823;9837959;9761774;16837165;21145461;21308979;21378159;20410302;19913121;20628086;19896495;20647543;16344560;20188462;20711340;20733000;19519662;19578796;19666113;19707939;19864325;20147969;20176813;21147981;21414324;21276418;21440060;22094461;21944249;21760893;21139048;21906983;21987572;21854185;22359512;23213138;21963094;23000965;23238254;23404507;15896299;22504301 5338 I3L1F3;I3L222;I3L2C9;I3L381;I3L3I7;I3L4R5;O14939 AB209374;ABBA01054775;AC109333;AC233723;AF033850;AF035483;AF038440;AF038441;AK304246;AK314797;AMYH01008042;AY178289;BC015033;BC056871;CH471108;DA390950;DC407587;NG_029608;NM_001243108;NM_002663 AAB96655;AAB96656;AAC24498;AAD04197;AAH15033;AAH56871;AAO21120;BAD92611;BAH14141;CAL38027;CAL38028;CAL38037;CAL38479;EAW90404;EAW90405;EAW90406;NP_001230037;NP_002654;O14939 Hs.104519 1686292;2175798 A006R35;RH12418 OTTHUMP00000115984;PLD 2;PLD1C;choline phosphatase 2;hPLD2;phosphatidylcholine-hydrolyzing phospholipase D2;phospholipase D2 APPROVED protein-coding ENSG00000129219 9068 03857 602384 REVIEWED 1346892 PLEKHA3P1 pleckstrin homology domain containing, family A member 3 pseudogene 1 19 19 19 q13.2 38826446 38828163 - 46718336 46720045 - 42026588 42028305 - 91405 ABBA01040811;AC005795;AMYH01009820;NG_000949 1678611 RH93301 PLEKHA3P pseudo 19648 INFERRED 1352018 PLEKHA2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 8 8 8 p11.22 37712048 37783032 + 38877910 38950588 + 38758753 38831431 + 1302742;1580863;6480464;6484113 11001876 16421571;14702039;11802782;18029348;19786618;20379614;22505724 59339 A8K727;E5RGP3;E5RHB5;Q9HB19 AA985353;ABBA01015934;ABBA01023516;ABBA01023517;AC067817;AC108863;AF286164;AK057205;AK098787;AK291842;AK296068;AK309020;AMYH01018657;BQ025762;DC332022;NM_021623 AAG15201;AAI66639;BAF84531;BAG58827;NP_067636;Q9HB19 Hs.369123 1664529;1668310;1723653;1774058;1776781;1777524;2184010;5014051;5015619;5015869;5021872;5022200;5037552;5109362;5118444;5124303 D11S3114;D11S3316;D17S1239;D8S1969;D8S2278;D8S2279;G32139;GDB:313261;L18426;RH118744;RH36052;RH42012;RH48892;STS-AA019257;STS-H42485;sY3084 FLJ25921;TAPP2 PH domain-containing family A member 2;TAPP-2;pleckstrin homology domain-containing family A member 2;pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2;tandem PH Domain containing protein-2;tandem PH domain-containing protein 2 protein-coding ENSG00000169499 14336 607773 PROVISIONAL 731690 PLEC plectin Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011] 8 8 q24 145061309 145121531 - 144989321 145050913 - 1599911;6480464;7240710 8894687 8696340;8633055;19165527;18541706;18155192;18084872;17662978;17515952;17499243;17397861;17389230;17081983;16565220;16507904;16097034;16083285;15951569;15817481;15810881;15654962;15635413;15592455;15500642;15342556;15302935;15231748;14966116;14672974;14559777;12791251;12577067;12542521;12482924;12477932;12136158;11854008;11851880;11441066;11328943;11172097;11159198;10891503;10780662;10556294;10525545;10446808;9808630;9701547;9177781;8941634;8895530;8830774;8698233;8636409;8626512;3027087;2023931;20471030;20447487;18029348;20052759;20665883;23398456;21109228;20936779;10637308;10811835;12802069;14668477;16757171;19242489;19366731;19615732;19709076;19945614;20016501;16159877;21469503;19932097;20797700;21182205;22863883;23182705;23383273;21288893;21420381;21424933;23824909;22939629;19596686;21743296;16944923;20842667;21821021;21175599;22333906;19725029;19738201;22623428;23000965;23438482;21139048;21890473;21906983;21963094;21987572;22240165;20686565;20301336;22245045;22536838;22266860;22586326;16009940;17361185;21145461;21319273;22139419;20876399;22505724 5339 E9PIA2;E9PKG0;E9PMV1;E9PQ28;H0YDN1;Q6S381 ABBA01005234;ABBA01005235;ABBA01005236;AC109322;AF330792;AMYH01019120;AMYH01019121;AMYH01019122;AY480044;AY480045;AY480046;AY480047;AY480048;AY480049;AY480050;AY480051;BC007597;BC013206;BP231761;BP321327;BP359323;CH471162;CS673496;CS690879;FB665632;GM706844;NG_012492;NM_000445;NM_201378;NM_201379;NM_201380;NM_201381;NM_201382;NM_201383;NM_201384;U53204;U63610;X97053;Z36817;Z54367 AAB05427;AAB05428;AAH07597;AAL37483;AAR95677;AAR95678;AAR95679;AAR95680;AAR95681;AAR95682;AAR95683;AAR95684;CAA65765;CAA91196;CAP07515;CAP11483;CAR97097;CAT82346;EAW82170;EAW82171;EAW82172;EAW82173;EAW82174;NP_000436;NP_958780;NP_958781;NP_958782;NP_958783;NP_958784;NP_958785;NP_958786;Q15149 Hs.434248 5116966 ha2616 EBS1;EBSO;HD1;LGMD2Q;PCN;PLEC1;PLEC1b;PLTN OTTHUMP00000229282;OTTHUMP00000229283;OTTHUMP00000229284;OTTHUMP00000229285;OTTHUMP00000229286;OTTHUMP00000229287;OTTHUMP00000229626;OTTHUMP00000229627;OTTHUMP00000229628;hemidesmosomal protein 1;plectin;plectin 1, intermediate filament binding protein 500kDa;plectin-1 APPROVED protein-coding ENSG00000178209 9069 03180 131950;226670;601282;612138;613723 REVIEWED 1314027 PLEK2 pleckstrin 2 14 14 14 q23.3 47912754 47937883 - 66923453 66948581 - 67853700 67878828 - 1580863;6480464 10419454;18029348;17658464;17008542;15865208;15489334;12477932;11911883;10548495;8889549;22939629;21698244;21906983 26499 G3V337;H0YIZ5;H0YJ64;H0YJD0;Q9NYT0 ABBA01023713;AF228603;AL139785;AMYH01005813;BC001226;BC008056;CH471061;NM_016445 AAF34791;AAH01226;AAH08056;ABM82164;ABM85349;EAW80935;NP_057529;Q9NYT0 Hs.170473 1769413 RH68728 OTTHUMP00000245574;OTTHUMP00000245696;pleckstrin 2 homolog;pleckstrin-2 protein-coding ENSG00000100558 19238 12151 608007 PROVISIONAL 1346745 PLEKHA4 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 19 19 19 q13.33 46207718 46239248 - 54032167 54063670 - 49340354 49371884 - 1302742;6480464 11001876 16169070;15489334;12477932 57664 M0QXD9;M0QXJ3;M0R0J1;M0R0V1;M0R2K5;Q9H4M7 AB208908;ABBA01032963;AC026803;AMYH01009908;AY007233;BC015956;BC024157;BC025259;BC033832;BC064601;CH471177;NM_001161354;NM_020904 AAG01896;AAH24157;AAH33832;AAH64601;ABM84360;ABW03560;BAD92145;EAW52406;EAW52407;EAW52408;NP_001154826;NP_065955;Q9H4M7 Hs.9469 1699262;2107519;5014740;5016478 D17S610;GDB:434012;PLEKHA4__6975;RH103213 PEPP1 PEPP-1;PH domain-containing family A member 4;phosphoinositol 3-phosphate binding protein-1;phosphoinositol 3-phosphate-binding PH domain protein 1;phosphoinositol 3-phosphate-binding protein 1;pleckstrin homology domain-containing family A member 4 protein-coding ENSG00000105559 14339 09683 607769 VALIDATED 1317946 PLEK pleckstrin 2 2 p13.3 68445826 68478089 + 68592322 68624585 + 1580863;6480464 6885823;7559487;8615792;15698571;8999861;8694752;10497244;2768345;7782310;10995449;9060471;19043545;15815621;15761153;15573383;15489334;14702039;12477932;12456365;12054651;10860665;8208296;2897630;19913121;20628086;14630798;19546854;19722192;19944685;20190752;6457647;21393855;21890473;21833088;22190364 5341 P08567;Q59GZ2 AB208967;ABBA01075484;AC015969;AK124424;AK130678;AK313756;AMYH01010416;BC018549;BM477542;CH471053;CR542056;CR542079;NM_002664;X07743 AAH18549;AAX93121;ABM84512;ABM85822;BAD92204;BAG36495;CAA30564;CAG46853;CAG46876;EAW99874;EAW99875;EAW99876;NP_002655;P08567 Hs.468840 1651127;1654936 D2S2638;RH111 FLJ27168;P47 OTTHUMP00000159962;platelet 47 kDa protein;pleckstrin protein-coding ENSG00000115956 9070 15935 173570 VALIDATED 1348276 PLEKHA8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 7 7 p21-p11.2 30034813 30096885 + 30067977 30157961 + 1302742;737633;6480464 11001876;12477932 19341712;17687330;16103222;15107860;14702039;12747765;22266015;17116893;18459163;19940249;20482226;22675492;21890473 84725 B5MDU3;J3KQS5;Q96JA3 AACC02000087;AB073667;ABBA01056809;ABBA01056810;ABBA01056811;AC007036;AC007285;AF308300;AI168153;AI954066;AK023180;AK294857;AL832700;AMYH01017145;AMYH01017146;BC002838;BC053990;CH471073;CR627312;NM_001197026;NM_001197027;NM_032639 AAG48267;AAH02838;AAH53990;ABM84424;ABM87457;BAB14449;BAG57961;EAW93930;EAW93931;EAW93932;EAW93933;NP_001183955;NP_001183956;NP_116028;Q96JA3 Hs.233495;Hs.734170 1338906;1659945;1680773;1856266;2144464;2185554;7186811 D7S2492;RH47354;RH69225;RH92407;SHGC-56012;WI-17895 DKFZp313M1034;DKFZp686J09164;FAPP2;MGC3358 FAPP-2;OTTHUMP00000123378;OTTHUMP00000123379;OTTHUMP00000123380;OTTHUMP00000202309;PH domain-containing family A member 8;hFAPP2;phosphatidylinositol-four-phosphate adapter protein 2;phosphoinositol 4-phosphate adapter protein 2;phosphoinositol 4-phosphate adaptor protein-2;pleckstrin homology domain-containing family A member 8;serologically defined breast cancer antigen NY-BR-86 protein-coding ENSG00000106086 30037 10555 608639 VALIDATED 1313158 PLEKHA3 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 2 2 2 q31.2 172948086 172972669 + 179053445 179078029 + 179345199 179369783 + 1302742;1580863;6480464 11001876 16341674;15489334;15252450;15107860;14702039;12477932;20300118;21454700;21298564 65977 F8WCR7;H7C0Q0;Q9HB20 ABBA01062246;AC009948;AF286162;AK000074;AK074209;AK314459;AMYH01011305;BC035471;BC039812;BC044567;BM794932;CH471058;DQ786318;NM_019091 AAG15199;AAH44567;AAX88884;ACE86891;ACE87578;BAA90927;BAG37067;EAX11023;EAX11024;EAX11025;EAX11026;NP_061964;Q9HB20 Hs.41086 1678611;1703884;2167989 RH66213;RH93301;SHGC-83589 FAPP1;FLJ20067 FAPP-1;OTTHUMP00000205697;PH domain-containing family A member 3;four-phosphate-adaptor protein 1;phosphatidylinositol-four-phosphate adapter protein 1;phosphoinositol 4-phosphate adapter protein 1;pleckstrin homology domain-containing family A member 3;pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 protein-coding ENSG00000116095 14338 09688 607774 VALIDATED 1345011 PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010] 10 10 q26.13 124124210 124181856 + 124134094 124191871 + 1302742;6480464;6484113;7240710 11001876 15164054;18164066;18079691;17884985;17000705;16174643;16080115;15489334;15485858;14702039;14516276;12477932;12101241;11802782;11513726;17823121;18029348;18654987;19948975;20189936;15146197;16344560;22562153;19322201;21139048;21906983 59338 B3KQL5;Q5RGS4;Q9HB21;R4GMZ9 AB209407;ABBA01062846;AF286160;AK057463;AK075159;AK095775;AK314660;AL133603;AMYH01003135;BC001136;BC041654;BC042458;BE785067;BX647627;BX664700;BX842242;CH471066;CN310748;DA923219;NG_027823;NM_001001974;NM_001195608;NM_021622;R26739 AAG15197;AAH01136;AAH42458;ABM83192;ABM86393;BAD92644;BAG37218;BAG51917;BAG52077;EAW49315;EAW49316;EAW49317;EAW49318;EAW49319;NP_001001974;NP_001182537;NP_067635;Q9HB21 Hs.643512;Hs.738826 1681560;1755593;1776345;2119664;2120156;2132969;2157015;5016478;5022450 D10S275;GDB:434012;RH44535;RH66233;RH79571;SHGC-142449;STS-R62957;U75684;WI-17828 TAPP1 OTTHUMP00000020650;OTTHUMP00000020651;OTTHUMP00000206097;PH domain-containing family A member 1;TAPP-1;pleckstrin homology domain-containing family A member 1;pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1;tandem PH domain containing protein-1;tandem PH domain-containing protein 1 APPROVED protein-coding ENSG00000107679 14335 09686 603075;607772 REVIEWED 1350975 PLEKHA7 pleckstrin homology domain containing, family A member 7 11 11 11 p15.1 16936331 17162547 - 16765786 16992535 - 16809207 17035963 - 737633;6480464;6484113 12477932 19041755;19430479;15146197;19615732;20193553;20379614;20479155;20414254;21045733;20808826;22542108;11181995;21454477;23505305;18029348;21139048;21890473;21963141;21909110;22922875;23000965;23444366 144100 E9PIK1;E9PKC0;E9PL74;E9PN45;H0YDE2;Q6IQ23 ABBA01061075;ABBA01061076;ABBA01061077;ABBA01061078;ABBA01061079;ABBA01061080;ABBA01061081;AC026639;AC116533;AC127033;AC131064;AK296371;AK301465;AMYH01003409;AMYH01003410;AW135567;BC033239;BC041452;BC071599;BX648885;CH471064;CN293588;NM_175058 AAH33239;AAH41452;AAH71599;BAG59045;BAG62985;EAW68452;EAW68454;NP_778228;Q6IQ23 Hs.12332 1337123;1645850;1650858;1663938;1716549;1720035;1737681;1737695;1782294;1782476;2116075;2129283;2176125;2178772;2186485 D11S1059;D11S1890;D11S3284;D11S3297;D11S4099;RH121560;RH123812;RH17948;RH35799;RH45832;SHGC-112562;SHGC-171524;SHGC-30765;SHGC-33574;STS-N66954 DKFZp686M22243 OTTHUMP00000231600;OTTHUMP00000231602;PH domain-containing family A member 7;pleckstrin homology domain containing, family A member 2;pleckstrin homology domain-containing family A member 7 protein-coding ENSG00000166689 27049 15142 612686 VALIDATED 1351574 PLEKHA8P1 pleckstrin homology domain containing, family A member 8 pseudogene 1 12 12 12 q 44370526 44413481 - 43853114 43896056 - 45566817 45609789 - 737633 12477932 17207965;11001876;14702039;8889548 51054 O95397 ABBA01031441;AC009248;AF103731;AF380162;AK024218;AMYH01004421;BC028914;BC063575;BU741550;CH471111;NR_037144 AAC97956;AAH63575;AAK55424;ADQ32602;EAW57878;EAW57879;EAW57880;O95397 Hs.233495;Hs.558495 1680773;1777061;1781230 D12S1314;RH92407;stSG67529 FLJ14156;PLEKHA9 protein PLEKHA9;putative glycolipid transfer protein APPROVED pseudo ENSG00000134297 30222 15143 VALIDATED 1344659 PLEKHA5 pleckstrin homology domain containing, family A member 5 12 12 12 p12 24428283 24674976 + 19173995 19420601 + 19282626 19529334 + 1302742;6480464 11001876 16713569;17081983;16964243;16344560;15951569;15489334;15324660;15231747;14702039;12477932;12168954;11214970;11058868;20936779;22037487;21139048;19322201;19531213 54477 A0JP02;B4DJX4;E7EME8;F5H1X3;H0YG48;H0YGJ6;Q96DY9 AB051473;AB642244;ABBA01067930;ABBA01067931;ABBA01067932;ABBA01067933;ABBA01067934;ABBA01067935;ABBA01067936;ABBA01067937;ABBA01067938;ABBA01067939;ABBA01067940;AC024902;AC087314;AC091805;AC092828;AF302150;AJ270694;AK001529;AK023127;AK026344;AK056054;AK130244;AK294739;AK295151;AK296277;AK297391;AL834259;AMYH01004311;AMYH01004312;BC000969;BC004164;BC013133;BC044245;BC070174;BC127091;BC127092;CH471094;DB186727;DC311342;DR000821;NM_001143821;NM_001190860;NM_001256470;NM_001256787;NM_019012 AAG22817;AAH00969;AAH13133;AAH44245;AAH70174;AAI27092;AAI27093;BAA91742;BAB14419;BAB21777;BAG57882;BAG58167;BAG58986;BAG59831;BAL45489;CAD38934;EAW96392;EAW96393;EAW96394;EAW96395;EAW96396;EAW96397;NP_001137293;NP_001177789;NP_001243399;NP_001243716;NP_061885;Q9HAU0 Hs.188614 1657950;1660797;1725951;1755641;1756577;1782714;1847135;2136925;2170871;5015404;5015961;5016478;5022200;5022322;5022450;5022651;5024761;5037552;5109281 D10S275;D11S2560;D11S2921;D12S863;D15S1477;D1S1425;D8S2279;G62290;GDB:434012;L17705;L18426;RH11269;RH36905;RH78296;SHGC-142493;SHGC-143611;SHGC-155479;SHGC-17258;WI-14012 FLJ10667;FLJ26734;FLJ31492;KIAA1686;PEPP-2;PEPP2 OTTHUMP00000237298;OTTHUMP00000237299;OTTHUMP00000237300;OTTHUMP00000237302;OTTHUMP00000239732;PEPP-2;PH domain-containing family A member 5;phosphoinositol 3-phosphate-binding protein 2;phosphoinositol 3-phosphate-binding protein-2;pleckstrin homology domain-containing family A member 5 protein-coding ENSG00000052126 30036 09684 607770 VALIDATED 1353676 PLEKHA6 pleckstrin homology domain containing, family A member 6 1 1 1 q32.1 177323436 177464478 - 202454604 202595667 - 204187979 204329057 - 1302742;6480464 11001876 17456239;16964243;15951569;14702039;12477932;10737800;10231032;19536175;20379614;20936779;16341674;21163940;15203218;17110338;23362303 22874 Q5VTI5;Q9Y2H5 AB023186;ABBA01027447;ABBA01027448;AK092454;AK096673;AK299780;AL571585;AL592114;AL606489;AMYH01001661;AMYH01001662;BC010522;BC073995;BC090947;BC152475;BE701705;BF995878;BG011951;BM855051;BX954305;CD626363;CH471067;DQ925685;DQ925686;DQ925687;DQ925689;DQ925690;DQ925691;NM_014935 AAH10522;AAI52476;AAI67845;ABL59912;ABL59913;ABL59914;ABL59916;ABL59917;ABL59918;BAA76813;BAG61662;EAW91509;EAW91510;NP_055750;Q9Y2H5 Hs.253146 1648912;1666370;1692330;1758039;1767395;1775553;1781574;2121561;2124992;2142079;2158383;2158385;2159122;2159790;2188291 A005T46;AFMa130xc1;AL009483;AL010012;AL033822;D1S2480;G20493;G66173;RH65974;SHGC-147188;SHGC-147555;SHGC-76176;SHGC-76183;SHGC-76194;WI-11131 KIAA0969;MGC176733;PEPP-3;PEPP3 OTTHUMP00000034310;OTTHUMP00000038673;PEPP-3;PH domain-containing family A member 6;phosphoinositol 3-phosphate-binding protein 3;phosphoinositol 3-phosphate-binding protein-3;pleckstrin homology domain-containing family A member 6 protein-coding 17053 09685 607771 VALIDATED 1349345 PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 19 19 19 q13.2 36705440 36720745 + 44595590 44607994 + 39903750 39919055 + 737633;1580863;6480464 12477932 18045877;14702039;11839748;11756498;12376548;12787561;19911011;21832049;23000341;23811570 64857 C9J7S4;C9JVL3;E7ESZ3;H7BXC7;M0QX05;M0QZT7;M0R0V0;M0R348;M0R391;M0R3G5;M0R3J0;Q9H7P9 ABBA01040729;AC011500;AK024429;AK026111;AK095957;AK302476;AL832850;AMYH01009794;BC013426;BC015174;BC075858;CH471126;NM_022835 AAH13426;AAH15174;AAH75858;BAB15364;BAB15719;BAG63764;EAW56887;EAW56888;EAW56889;EAW56890;EAW56891;NP_073746;Q9H7P9 Hs.631574 2191251;5014051;5015621;5016700;5022450;5024761;5037552;5109281 D10S275;D11S3732;D1S1425;D8S2278;D8S2279;MARC_16805-16806:1042838652:1;RH36905;RH79802 ARHGEF42;CLG;DKFZp667J2325;FLJ00018;FLJ22458;FLJ38638 OTTHUMP00000201969;OTTHUMP00000201970;OTTHUMP00000201971;PH domain-containing family G member 2;common-site lymphoma/leukemia guanine nucleotide exchange factor;pleckstrin homology domain-containing family G member 2 protein-coding ENSG00000090924 29515 15148 611893 VALIDATED 1347482 PLEKHD1 pleckstrin homology domain containing, family D (with coiled-coil domains) member 1 14 14 14 q24.1 50015608 50059327 + 69021162 69089065 + 69951471 69995215 + 6480464 10737800;12477932;12508121;21906983 400224 A6NEE1 ABBA01030827;AK126770;AL133445;AL157996;AMYH01005825;BC146872;CH471061;CV325135;NM_001161498;XM_063135 A6NEE1;AAI46873;EAW80997;EAW80998;NP_001154970 Hs.509796 1661885;1773772;2155255;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;FB3D3;L18426;RH78205;WI-15292 FLJ44817;UPF0639 OTTHUMP00000245515;PH domain-containing family D member 1;UPF0639 protein;pleckstrin homology domain containing, family D (with M protein repeats) member 1;pleckstrin homology domain-containing family D member 1 APPROVED protein-coding ENSG00000175985 20148 VALIDATED 1343334 PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 11 11 11 q13.5-q14.1 70662626 70679269 + 73034871 73051512 + 73357223 73373864 + 1580863;6480464 10585447;15761153;15489334;14702039;12477932;10923244;19913121;20628086;20301200;20308990 58473 F5GXN2;F5GY87;F5GY96;F5GYU9;F5GZ38;F5GZH3;F5H0R6;F5H114;F5H190;F5H1B8;F5H3M1;F5H866;Q9UF11 AB209716;ABBA01017512;AF081583;AF093249;AF100612;AF101054;AF179306;AK054725;AK289620;AK289909;AK290109;AK296033;AK301299;AK311158;AK314748;AL712105;AMYH01003804;AP000860;AP002993;BC008075;CH471076;CK819503;DC305763;EB387039;NM_001130033;NM_001130034;NM_001130035;NM_001130036;NM_021200;U89715 AAF16675;AAF16684;AAF18572;AAF18932;AAF21786;AAG13807;AAH08075;ADZ15828;BAD92953;BAF82309;BAF82598;BAF82798;BAG37288;BAG51417;BAH12242;BAH13452;EAW74900;EAW74901;EAW74902;EAW74903;EAW74904;EAW74905;EAW74906;NP_001123505;NP_001123506;NP_001123507;NP_001123508;NP_067023;Q9UF11 Hs.445489 1662296;1773088;2143747;2181326;5092334 A002P06;G34861;G42179;RH12899;SGC31238 KPL1;PHR1;PHRET1 OTTHUMP00000237624;OTTHUMP00000237625;OTTHUMP00000237627;OTTHUMP00000237628;OTTHUMP00000237629;OTTHUMP00000237631;OTTHUMP00000237632;OTTHUMP00000237633;OTTHUMP00000237634;OTTHUMP00000237636;OTTHUMP00000237637;OTTHUMP00000237638;OTTHUMP00000237639;OTTHUMP00000237640;PH domain containing protein in retina 1;PH domain containing, retinal 1;PH domain-containing family B member 1;PH domain-containing protein in retina 1;evectin-1;pleckstrin homology domain retinal protein 1;pleckstrin homology domain-containing family B member 1 protein-coding ENSG00000021300 19079 09630 607651 VALIDATED 1322147 PLEKHB2 pleckstrin homology domain containing, family B (evectins) member 2 2 2 2 q21.1 124670149 124715261 - 131578890 131623895 + 131862420 131907425 + 632809;1580863;6480464 10200314 15231747;17353931;15489334;15231748;14702039;12477932;8125298;16169070;11001876;16751776;21911378;15342556;16344560;22281740;22505724 55041 B4DJB7;B7WPA5;Q9NWK1 ABBA01004564;ABBA01004565;AC009477;AC073869;AC131180;AI458777;AK000790;AK054998;AK074259;AK093730;AK123710;AK126289;AK223338;AK293880;AK296008;AK302770;AMYH01011085;AMYH01011086;BC001428;BC013991;BC050695;BP362174;BQ052811;BQ649140;BQ719002;BU174451;CH471250;CK000843;DB294071;DC303684;DQ589845;DR761393;NM_001100623;NM_001267062;NM_001267063;NM_001267064;NM_001267065;NM_001267066;NM_001267067;NM_001267068;NM_017958;NR_049789;NR_049790;NR_049791;NR_049792 AAH01428;AAH13991;AAH50695;AAX93135;ABM82879;ABM86065;BAA91379;BAD97058;BAG53942;BAG57269;BAG58779;BAG63978;EAW51260;EAW51261;EAW51262;EAW51263;EAW51264;EAW51265;EAW51266;NP_001094093;NP_001253991;NP_001253992;NP_001253993;NP_001253994;NP_001253995;NP_001253996;NP_001253997;NP_060428;Q96CS7 Hs.469944;Hs.708368 1666388;1674812;1679067;1734254;1734980;1769137;2179352;5014051;5022200;5037552 D2S1502E;D2S1723E;D8S2278;D8S2279;L18426;RH48295;RH69454;RH93192;SHGC-64085;WI-15619 EVT2;FLJ20783;FLJ23679;FLJ30436 OTTHUMP00000162428;OTTHUMP00000197850;OTTHUMP00000203955;OTTHUMP00000203956;OTTHUMP00000205940;PH domain-containing family B member 2;evectin-2;pleckstrin homology domain-containing family B member 2 protein-coding ENSG00000115762 19236 15144 VALIDATED 1321123 PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 6 6 6 q25.1 151655965 151898659 + 150962692 151206492 + 150920999 151164799 + 1580863;6480464 19165232;17081983;14702039;14574404;12477932;10574462;20641033;20379614;23535033;22488850;23251661 57480 H0YD71;Q5JYA6;Q5T1F3;Q9ULL1 AB033035;ABBA01025654;ABBA01025655;ABBA01025656;ABBA01025657;ABBA01025658;ABBA01025659;AJ420468;AK056300;AK293288;AK294798;AK307631;AL035086;AL450339;AL450344;AMYH01016743;AMYH01016744;AMYH01016745;BC089428;BC140864;BC151134;CH471051;NM_001029884 AAH89428;AAI40865;AAI51135;BAA86523;BAG51672;BAG56812;BAG57918;EAW47765;EAW47766;EAW47767;NP_001025055;Q9ULL1 Hs.189781 1340687;1644806;1647382;1648834;1655010;1665087;1667314;1668126;1674468;1699596;1721111;1727003;1739077;1739083;1739091;1779025;1848762;1858343;2127892;2129001;2133847;5015861;5020948;5093868;7185938 A009Y09;D10S16;D6S1350;D6S1353;D6S1357;D6S1496;D6S1687;D6S1853;G32971;G35510;G59540;G62899;RH103399;RH16295;RH16495;RH37419;RH70117;SGC44518;SHGC-33535;SHGC-34485;SHGC-36177;SHGC-44518;SHGC-57056;STS-T93958 ARHGEF41;FLJ31738;KIAA1209 OTTHUMP00000017413;OTTHUMP00000017414;pleckstrin homology domain-containing family G member 1 protein-coding ENSG00000120278 20884 PROVISIONAL 1321508 PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 19 19 19 q12 26854527 26864585 + 34848167 34858224 + 30156327 30166384 + 1580863;6480464 16189514;16188880;15489334;14702039;12477932;18029348;21139048;22115783 79156 K7EIX0;K7ELB8;Q96S99 ABBA01039543;AC010512;AC010644;AF434818;AK027758;AK301616;AMYH01009673;AY037145;BC002744;BC018876;NM_024310 AAH02744;AAK67626;AAL30773;BAB55349;BAG63101;NP_077286;Q96S99 Hs.466383 1680439 RH66127 APPD;LAPF;MGC4090;PHAFIN1;ZFYVE15 PH and FYVE domain-containing protein 1;PH domain-containing family F member 1;apoptosis-inducing protein D;lysosome-associated apoptosis-inducing protein containing PH and FYVE domains;phafin 1;phafin-1;pleckstrin homology domain-containing family F member 1;zinc finger FYVE domain-containing protein 15 protein-coding ENSG00000166289 20764 15146 615200 VALIDATED 1323798 PLEKHF2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 8 8 8 q22.1 92330955 92353916 + 96215208 96238089 + 96145949 96168913 + 1580863;6480464 11256614;18288467;17081983;16381901;16189514;15489336;15489334;14702039;12477932;11230166;11076863;20923822;19060904;19995552;21832049;19322201;23000965;22816767 79666 Q9H8W4 AA767886;ABBA01037477;ABBA01037478;AC018801;AF434819;AK023249;AL834473;AMYH01018898;AMYH01018899;BC011806;CH471060;NM_024613 AAH11806;AAL30774;ABM84335;ABM87727;BAB14486;CAD39132;CAL37459;CAL38501;EAW91743;NP_078889;Q9H8W4 Hs.29724 1654908;1698336 RH102709;SHGC-34280 EAPF;FLJ13187;PHAFIN2;ZFYVE18 OTTHUMP00000227182;PH and FYVE domain-containing protein 2;PH domain-containing family F member 2;pleckstrin homology domain-containing family F member 2;zinc finger FYVE domain-containing protein 18 protein-coding ENSG00000175895 20757 15147 615208 VALIDATED 1346378 PLEKHG3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 14 14 14 q23.3 45228934 45268795 + 64240946 64280813 + 65171193 65211060 + 6480464 12477932;9628581;21360829;21139048 26030 G3V278;G3V2V2;G3V311;G3V3I3;Q8TEF5 AB011171;ABBA01018368;AK074169;AL121774;AMYH01005800;BC004298;BC011891;BC063554;BC073907;BC086862;BC129952;BC129953;BX248779;CH471061;NM_015549 A1L390;AAH04298;AAH11891;AAH63554;AAH73907;AAI29953;AAI29954;BAA25525;BAB84995;CAD66586;EAW80869;EAW80870;EAW80871;EAW80872;EAW80873;NP_056364 Hs.509637 1337172;1340117;1670064;1677356;1690442;1706808;1722775;1739411;2117962;2133975;2163909;2169597;5015619;5109663 D11S3114;D14S1024;D14S1046;D14S817E;D14S830;D7S2067E;G35477;G35654;G60327;RH36893;RH44753;RH91150;SGC33039;SHGC-80881 ARHGEF43;KIAA0599;MGC156299;MGC156300 OTTHUMP00000028327;OTTHUMP00000245294;PH domain-containing family G member 3;pleckstrin homology domain containing, family G, member 3;pleckstrin homology domain-containing family G member 3 protein-coding ENSG00000126822 20364 17861 VALIDATED 1604901 PLEKHG7 pleckstrin homology domain containing, family G (with RhoGef domain) member 7 12 12 12 q22 92801387 92836959 + 91654442 91689999 + 93130265 93165868 + 12477932;21658281;20379614 440107 Q6ZR37;R4GMP4 ABBA01053392;AC016136;AK128530;AMYH01004657;BC137086;NM_001004330 AAI37087;BAC87483;NP_001004330;Q6ZR37 Hs.591013 FLJ46688 OTTHUMP00000242835;PH domain-containing family G member 7;pleckstrin homology domain-containing family G member 7 protein-coding ENSG00000187510 33829 17004 VALIDATED 1604025 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different isoform, have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q22.1 65868914 65880884 + 67311413 67323403 + 6480464 19065522;17611710;17357132;16780885;16713569;16491300;16344560;16001362;15489334;15455264;15148151;14702039;12796826;12477932;8755926;20424877;18482007;21357611;21906983;22505724 25894 H3BME5;H3BPA8;H3BPQ5;H3BQ60;H3BQE6;H3BQP9;H3BSU4;J3QSC9;Q58EX7 AB197663;AB197664;ABBA01025433;ABBA01025434;AC040160;AK024475;AK304723;AK308298;AL117435;AMYH01007746;BC001520;BC054486;BC063501;BC082974;BC115389;BC115390;CH471092;DB061030;DB279205;NG_008439;NM_001129727;NM_001129728;NM_001129729;NM_001129731;NM_015432 AAH54486;AAH63501;AAH82974;BAB15765;BAE07054;BAE07055;BAG65486;CAB55923;EAW83117;EAW83118;EAW83119;EAW83120;EAW83121;NP_001123199;NP_001123200;NP_001123201;NP_001123203;NP_056247;Q58EX7 Hs.188781 1337075;1337494;1683094;1689684 D16S397;D18S1095;RH65202;RH92943 ARHGEF44;DKFZp434I216;PRTPHN1;SCA4 PH domain-containing family G member 4;Purkinje cell atrophy associated protein 1;Purkinje cell atrophy-associated protein 1;pleckstrin homology domain-containing family G member 4;puratrophin-1 APPROVED protein-coding ENSG00000196155 24501 10890 609526 REVIEWED 1606952 PLEKHG4B pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 5 5 5 p15.33 240079 289697 + 193373 243087 + 140373 190087 + 12477932;11572484;21139048;21890473 153478 Q96HN1;Q96PX9 AB067496;ABBA01034263;ABBA01034264;AC010443;AC021087;AI561188;AK075513;AK125163;AK309784;AMYH01014820;AMYH01014821;BC008352;NM_052909 AAH08352;AAI56563;AAI72524;BAB67802;NP_443141;Q96PX9 Hs.535800 2129080;5016478;5021872 G09365;GDB:434012;sY3084 FLJ43173;KIAA1909 OTTHUMP00000220406;PH domain-containing family G member 4B;pleckstrin homology domain-containing family G member 4B protein-coding 29399 13900 VALIDATED 1351016 PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 2 2 2 p21 43703213 43833863 + 43717951 43848630 + 43864439 43995126 + 6480464 11256614;18752002;16381901;15489336;12477932;11230166;11076863 130271 E5RGK1;H0YBV1;Q8IVE3 AB095948;ABBA01075094;ABBA01075095;ABBA01075096;ABBA01075097;AC011242;AK124381;AK126308;AL832207;AL833400;AL833473;AL833546;AMYH01010301;AMYH01010302;AMYH01010303;AMYH01010304;BC031914;BC063310;NM_172069 AAH63310;BAC23124;CAD38637;CAI46132;CAL37417;NP_742066;Q8IVE3 Hs.164162 1339845;1654630;1726949;1779155;1789562;2185883;5014051;5037552 D2S2294;D2S4010;D8S2278;D8S2279;G62720;RH45614;RH45690;RH68901 KIAA2028;PLEKHH1L OTTHUMP00000158830;OTTHUMP00000201630;pleckstrin homology domain-containing family H member 2 protein-coding ENSG00000152527 30506 15149 612723 VALIDATED 1605382 PLEKHG6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6 12 12 12 p13.31 8036249 8054316 + 6289863 6307932 + 6419602 6437672 + 6480464 19421144;18694934;17881735;16721066;14702039;12477932;20634288;19129481;23251661;22505724 55200 F5H731;Q3KR16 ABBA01017637;ABBA01017638;AC006057;AF289613;AK001527;AK023741;AK095373;AMYH01004202;AW001611;BC040273;BC104751;BC105961;BC109095;BU754580;CH471116;NM_001144856;NM_001144857;NM_018173 AAI04752;AAI05962;AAI09096;AAL55797;BAA91741;BAC04539;EAW88807;EAW88808;EAW88809;EAW88810;NP_001138328;NP_001138329;NP_060643;Q3KR16 Hs.631660 1671939;1724523;2146586;2165756 G15949;RH122521;RH44631;WI-18755 FLJ10665;MGC126315;MGC126353;MGC126354;MyoGEF OTTHUMP00000238432;OTTHUMP00000238433;OTTHUMP00000238434;OTTHUMP00000238435;PH domain-containing family G member 6;myosin interacting guanine nucleotide exchange factor;myosin-interacting guanine nucleotide exchange factor;pleckstrin homology domain-containing family G member 6 protein-coding ENSG00000008323 25562 07692 611743 VALIDATED 1318086 PLEKHH1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 14 14 14 q24.1 48059079 48115320 + 67069761 67126008 + 68000008 68056255 + 1580863;6480464 16344560;14702039;12477932;10574462;22359512 57475 E7ESY2;H0YKY5;H0YLU5;H0YMQ6;Q9ULM0 AB033026;ABBA01023708;AI792090;AK123262;AK123305;AK124787;AK293950;AK295896;AK307428;AL132640;AMYH01005815;BC014159;BC146787;BX648137;BX648464;CH471061;DA056171;NM_020715 AAH14159;AAI46788;BAA86514;BAG54094;BAG57326;BAG58689;EAW80940;NP_065766;Q9ULM0 Hs.594236 1661521;2110661;2145377;5015619;5024761;5037552 D11S3114;D8S2279;G35794;PLEKHH1__5720;RH17629;RH36905 OTTHUMP00000245708;PH domain-containing family H member 1;pleckstrin homology domain-containing family H member 1 protein-coding ENSG00000054690 17733 17862 VALIDATED 1315942 PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2 1 1 1 p36.21 14493710 14544281 + 15880613 15933851 + 16010827 16061264 + 737633;6480464 12477932 15905402;10048485;16169070 23207 Q5VVD7;Q9NTF7 AB020649;ABBA01004700;ABBA01004701;AL121992;AL137297;AL450998;AL606758;AMYH01000274;BC008002;BC016488;BC030545;BC040441;BC042103;BC068599;CH471167;NM_015164 AAH08002;AAH16488;AAH30545;AAH40441;AAH42103;BAA74865;CAB70684;EAW51745;NP_055979;Q8IWE5 Hs.646775 1670072;1740589;1775170;2191271 D1S3097;MARC_16951-16952:1020776560:5;SHGC-74256;SHGC-74261 KIAA0842;RP11-169K16.1;SKIP OTTHUMP00000003094;OTTHUMP00000003095;PH domain-containing family M member 2;SifA (Salmonella-induced filaments A) and kinesin-interacting protein;novel RUN and PH domain-containing protein;pleckstrin homology domain-containing family M member 2;salmonella-induced filaments A and kinesin-interacting protein;sifA and kinesin-interacting protein protein-coding ENSG00000116786 29131 609613 VALIDATED 1603206 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 1 p36.31 5640600 5693925 - 6448739 6502656 - 6526152 6580121 - 6480464;7240710 12761501;17564964;16344560;14702039;12477932;9872452;8889548;22087225;22807448;11756498;12376548;12787561;19305408;19773279;23335514 57449 Q5SY18;Q5T8W9 AB018263;AB097001;ABBA01035451;ABBA01035452;ABBA01035453;ABBA01035454;ABBA01035455;ABBA01035456;AK024676;AK091201;AK096347;AK125550;AK128021;AK131074;AK294875;AK299523;AK301239;AL158217;AL591866;AMYH01000216;AMYH01000217;BC015231;BC036671;BC042606;BF033726;BG698980;BQ185626;CH471130;DA091930;DA100291;DA126163;DB093234;DB225012;NG_007978;NM_001042663;NM_001042664;NM_001042665;NM_001265592;NM_001265593;NM_001265594;NM_020631;NM_198681 AAH15231;BAA34440;BAC77354;BAC85124;BAG52304;BAG53269;BAH11909;BAH13058;BAH13439;CAI22159;EAW71539;NP_001036128;NP_001036129;NP_001036130;NP_001252521;NP_001252522;NP_001252523;NP_065682;NP_941374;O94827 Hs.284232;Hs.619982 1781712;1781778;1781806;2112924;2133667;2146641;2147800;2164049 A006V30;D1S3701;RH68223;SHGC-155205;SHGC-155709;SHGC-156104;SHGC-74147;SHGC-74157 DSMA4;GEF720;KIAA0720;RP4-650H14.3;Syx;Tech NFkB activating protein;OTTHUMP00000001050;OTTHUMP00000001051;OTTHUMP00000001052;OTTHUMP00000001053;OTTHUMP00000001054;OTTHUMP00000001055;PH domain-containing family G member 5;guanine nucleotide exchange factor 720;novel PH domain-containing protein;pleckstrin homology domain containing family G member 5;pleckstrin homology domain-containing family G member 5;synectin-binding guanine exchange factor APPROVED protein-coding ENSG00000171680 29105 11104 611067;611101 REVIEWED 1354234 PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 q21.31 40222636 40240265 - 40869049 40923893 - 43513266 43568146 - 6480464;7240710 17997709;17404618;16344560;12820725;12477932;9205841;16169070;15383276;20070850;20943950;23544013;21900206;21906983 9842 F8W648;J3KRL8;J3KRU0;J3KS30;K7EII8;K7EMP2;K7EPF2;K7EQ68;Q9Y4G2 AB002354;ABBA01017256;ABBA01028313;ABBA01028314;AC091132;AC217778;AJ002220;AK074103;AK299116;AK299467;AL389948;AMYH01008442;BC053848;BC064361;CH471178;DB064851;NG_012932;NM_014798;NR_027774;NR_027782;X85792 AAH64361;BAA20813;BAB84929;BAG61171;BAG61433;CAA59791;CAB91652;CAB97526;EAW51526;NP_055613;Q9Y4G2 Hs.514242 1339100;2110663;2115458;2129313;2143847;2172972 D17S1557;D17S633;PLEKHM1_9003;RH48419;SHGC-52535;WI-15095 AP162;B2;KIAA0356;OPTB6 162 kDa adapter protein;PH domain-containing family M member 1;pleckstrin homology domain-containing family M member 1 APPROVED protein-coding ENSG00000225190 29017 11439 611466;611497 REVIEWED 2302829 PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene 17 17 q24.1 60211204 60260987 - 62780959 62833302 - 16344560;12477932;21906983 440456 Q69YJ1 ABBA01011157;ABBA01035282;AC103810;AK301174;AK303621;AK304173;AK308180;AL833315;AMYH01008563;AMYH01008564;BC034693;DA759804;NR_024386 BAG62761;BAG64630;BAG65056;CAH10578;Q69YJ1 Hs.646585 1339100;2115458;2129313;2143847;5014051;5016781;5020948;5021872;5037552;5109281 D17S1557;D17S633;D1S1425;D8S2278;D8S2279;G35510;RH48419;SHGC-52535;SHGC-67307;sY3084 pseudo 35411 VALIDATED 1316273 PLEKHJ1 pleckstrin homology domain containing, family J member 1 19 19 19 p13.3 2167332 2170505 - 2184155 2187328 - 2233155 2236328 - 6480464 17353931;15761153;14702039;12477932;11602354;17207965;20098747;21832049;21890473;21900206 55111 K7EIW9;K7EIZ3;K7EKK8;K7EN12;K7ERH2;K7ERW3;Q9NW61 ABBA01002714;AC005263;AK001159;AK092742;AK097723;AK098725;AMYH01009278;BC003084;BC008966;CH471139;CR457253;CS300641;NM_018049 AAH03084;AAH08966;ADQ32812;BAA91525;BAG53521;CAG33534;CAK32305;EAW69405;EAW69406;EAW69407;NP_060519;Q9NW61 Hs.501353 1649945;2141581;5037552 D8S2279;RH12240;WI-11809 FLJ10297;GNRPX 9530063M10Rik;PH domain-containing family J member 1;guanine nucleotide releasing protein x;guanine nucleotide-releasing protein x;pleckstrin homology domain-containing family J member 1 protein-coding ENSG00000104886 18211 15150 PROVISIONAL 1602457 PLEKHH3 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 17 17 17 q21.2 37475397 37484507 - 38073458 38082495 - 40819932 40829048 - 6480464 14702039;12477932;21139048;21906983;21987572 79990 C9J412;K7EK04;Q7Z736 AB208939;ABBA01006414;ABBA01006415;AC067852;AK024672;AK096767;AL137584;AMYH01008395;AMYH01008396;BC016062;BC052978;BM194001;CH471152;HY056649;NM_024927;NR_073573;NR_073574 AAH16062;AAH52978;BAB14956;BAD92176;BAG53360;CAB70826;EAW60862;EAW60863;EAW60864;EAW60865;NP_079203;Q7Z736 Hs.632251 5014051;5022578 D1S1423;D8S2278 FLJ21019 PH domain-containing family H member 3;pleckstrin homology domain-containing family H member 3 protein-coding ENSG00000068137 26105 13381 VALIDATED 1604774 PLEKHN1 pleckstrin homology domain containing, family N member 1 1 1 1 p36.33 1681246 1689796 - 891740 900351 + 901877 910488 + 6480464 16381901;15489336;12477932;11230166;11076863 84069 J3KSM5;Q494U1 ABBA01016005;AL136730;AL645608;AMYH01000104;BC101386;BC101387;CH471183;NM_001160184;NM_032129 AAI01387;AAI01388;AAI41659;CAB66664;CAL38723;EAW56299;NP_001153656;NP_115505;Q494U1 Hs.528691 1699068;1757941 RH103110;SHGC-146903 DKFZp434H2010;MGC120613;MGC120616;RP11-54O7.7 OTTHUMP00000038447;PH domain-containing family N member 1;pleckstrin homology domain-containing family N member 1 protein-coding ENSG00000187583 25284 13190 VALIDATED 1343124 PLGLA plasminogen-like A (pseudogene) 2 2 q12.2 106354021 106376187 + 106998570 107007851 + 10092845;9074645;1986355;1554698;16344560 285189 Q15195;Q9UE70 ABBA01073838;AC114755;AMYH01010842;DA634686;M86871;M86872;M86873;NR_003506;U67178 AAA60168;AAB94300;Q15195 Hs.143436;Hs.631263 5126146 D2S2643 PLGLA1;PLGP2;PRGA plasminogen pseudogene 2 APPROVED pseudo ENSG00000240935 9074 612212 VALIDATED 2292191 PLEKHM3 pleckstrin homology domain containing, family M, member 3 2 2 2 q33.3 202448087 202652388 - 208401288 208574637 - 208686012 208890284 - 6480464 19028694;14702039;12477932;20379614;21890473;21906983 389072 C9J119;H7C0J9;Q6ZWE6 ABBA01062690;ABBA01062691;ABBA01062692;ABBA01062693;ABBA01062694;ABBA01062695;AC083900;AC093698;AC096772;AF462444;AK057612;AK123204;AMYH01011451;AMYH01011452;BC020812;BC042862;BC065842;BC151137;BX538248;BX648983;NM_001080475 AAH20812;AAI51138;AAI56836;AAP97712;BAC85557;NP_001073944;Q6ZWE6 Hs.159188;Hs.709906 1334690;1338024;1739285;1766235;2113916;2169273;5020988;5024039;7186763 AB046102;D16S325;D22S958;D2S154;D2S1941E;D2S2208;SHGC-149597;SHGC-57579 DAPR;DKFZp686O04200;FLJ41210;PLEKHM1L OTTHUMP00000206643;OTTHUMP00000206645;PH domain-containing family M member 3;differentiation associated protein;pleckstrin homology domain containing, family M, member 1-like;pleckstrin homology domain-containing family M member 3 protein-coding 34006 VALIDATED 1344870 PLEKHS1 pleckstrin homology domain containing, family S member 1 10 10 10 q25.3 109238565 109269575 + 115501203 115532181 + 115511213 115542192 + 737633;6480464 12477932 16344560;8889548;20379614;23251661 79949 H7BZQ2;Q9H5D9 ABBA01062989;ABBA01062990;AK027190;AK126354;AK128811;AK292867;AK296132;AL592546;AMYH01003081;BC036365;BC037870;BM979821;DB002630;FJ236306;NM_001193434;NM_001193435;NM_024889;NM_182601 AAH36365;AAH37870;ACI45238;BAB15687;BAC87618;BAF85556;BAG54312;BAH12264;NP_001180363;NP_001180364;NP_079165;NP_872407;Q5SXH7 Hs.228320 1781234 stSG68095 C10orf81;FLJ23537;HEL185;RP11-211N11.2;bA211N11.2 OTTHUMP00000020508;PH domain-containing family S member 1;PH domain-containing protein C10orf81;epididymis luminal protein 185;pleckstrin homology domain-containing family S member 1 APPROVED protein-coding ENSG00000148735 26285 12591 VALIDATED 1606003 PLEKHO1 pleckstrin homology domain containing, family O member 1 1 1 q21.2 148388794 148398449 + 150122170 150131825 + 6480464 17942896;17197158;16987810;16713569;16381901;16325375;15831458;15761153;15706351;15489336;15254037;14702039;12477932;11076863;10799509;8125298;18641638;20171213;20580715;18624398;20484049;21139048;20368287;22878216;23032291 51177 Q53GL0;Q5T4P8;Q5T4P9 ABBA01049323;AC242988;AF073836;AF168676;AF192912;AF217956;AF291105;AK025937;AK125609;AK222921;AK302255;AL358073;AMYH01001373;BC010149;BC023533;CH471121;NM_016274 AAF13461;AAF89644;AAH10149;AAH23533;AAK28027;AAK71509;AAQ13826;ABM84307;ABM87779;BAD96641;BAG63607;CAI14262;CAI14263;CAI14264;CAL37406;CAL37478;CAL38256;EAW53580;EAW53581;EAW53582;EAW53583;NP_057358;Q53GL0 Hs.438824 1770025;1777011 A005Z14;D1S3340 CKIP-1;OC120;RP11-458I7.3 2810052M02Rik;C-Jun-binding protein;CK2 interacting protein 1; HQ0024c protein;CK2-interacting protein 1;JBP;OC120;OTTHUMP00000014480;PH domain-containing family O member 1;casein kinase 2-interacting protein 1;osteoclast maturation-associated gene 120 protein;pleckstrin homology domain-containing family O member 1 protein-coding ENSG00000023902 24310 12217 608335 PROVISIONAL 1601963 PLEKHO2 pleckstrin homology domain containing, family O member 2 15 15 15 q22.1 42012800 42038917 + 62921186 62947254 + 65134082 65160201 + 6480464 14702039;12477932;21347282;21832049;21139048;21890473;21906983 80301 B3KTW8;Q8TD55 ABBA01038868;ABBA01038869;AC069368;AF217986;AF318373;AF494534;AK096203;AL157457;AMYH01006713;BC008744;CH471082;NM_001195059;NM_025201 AAG17229;AAH08744;AAL55880;AAM18053;BAG53230;EAW77697;EAW77698;EAW77699;EAW77700;NP_001181988;NP_079477;Q8TD55 Hs.709337 1335368;1848981;2125335;2150877 D15S1009;D2S2832;RH11340;WI-19915 DKFZp761K2312;FLJ38884;PLEKHQ1;PP1628;pp9099 OTTHUMP00000164046;OTTHUMP00000220559;PH domain-containing family O member 2;PH domain-containing family Q member 1;PH domain-containing protein;pleckstrin homology domain containing, family Q member 1;pleckstrin homology domain-containing family O member 2;pleckstrin homology domain-containing family Q member 1 protein-coding ENSG00000241839 30026 15910 VALIDATED 1606837 PLGLB1 plasminogen-like B1 2 2 p11.2 87091098 87102480 - 87237587 87248969 - 6480464 15815621;2714803;1986355;1554698;1379800;15489334;12477932;19913121;20628086 5343 F8WCD6;Q02325 AC111200;AC125232;BC070296;BC107767;BC109248;M86874;M86875;M86876;NM_001032392 AAA60169;AAI09249;AAY24020;AAY24028;NP_001027564;Q02325 Hs.652169;Hs.652174 5015961;5016889;5022322;5024756;5113357;5123514;5126146 A007H01;D11S2560;D15S1477;D2S2643;RH65147;RH79781;RH80030 PLGL;PLGP1;PRGB;PRP-B OTTHUMP00000203509;OTTHUMP00000203510;OTTHUMP00000203511;OTTHUMP00000203512;plasminogen-like protein B;plasminogen-related protein B;type B plasminogen related protein-coding 9072 173340 VALIDATED 1315681 PLGRKT plasminogen receptor, C-terminal lysine transmembrane protein 9 9 9 p24.1 5283603 5363499 - 5347971 5427860 - 5357966 5437937 - 737633;6480464 12477932 18029348;15489334;15164053;14702039;10931946;16169070;20379614;17207965;20877624;8889548;21940822;19897580;21795689;23251661 55848 Q9HBL7 AA919015;ABBA01065413;ABBA01065414;AF220050;AF225420;AK027594;AK312736;AL135786;AMYH01019203;BC008212;BC036853;BM693747;CH471071;NM_018465 AAF67643;AAG09722;AAH08212;ADQ32787;BAB55219;BAG35607;EAW58764;EAW58765;EAW58766;NP_060935;Q9HBL7 Hs.584242 1655332;1689831;2176395 G17371;RH91251;WI-15157 AD025;C9orf46;FLJ14688;FLJ39176;MDS030;PLG-RKT;Plg-R(KT) 5033414D02Rik;OTTHUMP00000021028;plasminogen receptor (KT);plasminogen receptor with a C-terminal lysine;transmembrane protein C9orf46 APPROVED protein-coding ENSG00000107020 23633 12961 VALIDATED 1343043 PLG plasminogen The protein encoded by this gene is a secreted blood zymogen that is activated by proteolysis and converted to plasmin and angiostatin. Plasmin dissolves fibrin in blood clots and is an important protease in many other cellular processes while angiostatin inhibits angiogenesis. Defects in this gene are likely a cause of thrombophilia and ligneous conjunctivitis. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 q26 161043273 161094328 + 161123225 161175086 + 1601405;1580863;1601404;6480464;6484113;6907045;7240710 9242524;8392398 16480936;1986355;11257124;8910613;14726399;6438154;2318848;2962641;6216475;19308255;19158842;19074676;18983515;18981180;18714035;18685433;18667578;18658146;18568768;18566672;18392331;18366077;18331597;18310038;18289715;18279394;18163891;18160581;18070889;18039838;17978577;17927806;17890952;17656680;17653767;17616171;17606760;17545513;17379720;17272502;17206383;17200769;17115186;16828203;16790522;22197896;16601838;16478887;16319056;16229836;16097950;16087677;16043488;15911629;15746964;15677446;15642732;15613921;15609351;15529749;15501816;15489334;15333838;15321992;15299951;15220341;15215240;15211511;15099286;15090462;14769799;14764098;14739293;14739127;14719094;14678821;14574404;12876630;12871329;12736244;12700073;12697748;12692411;12646571;12604689;12477932;12456874;12406896;12228252;12192005;12189145;12093796;12080056;12054798;12036889;12016220;11939791;11928826;11888684;11729324;11371191;11350170;11342539;11263499;11169399;11113116;11100730;11027681;10978167;10974350;10964919;10956663;10928473;10889192;10700393;10656799;10625689;10604721;10512713;10233898;10218588;10215610;10077593;10069369;9858247;9834305;9783753;9737862;9688635;9596664;9548733;9521645;9490681;9428707;9375744;9360944;9337997;9305949;9234243;9201958;9102221;9054441;9020112;8843739;8652577;8612605;8611560;8555184;8478593;8460120;8360181;8181476;8181475;8162705;8054447;7982919;7814888;7586586;7548163;7538844;7525077;6919539;6838832;6582496;6238949;6148961;6094526;5475635;4694729;4240117;4226004;3920216;3356193;3334852;3030813;2962191;2829380;2745554;2522013;2437112;2157850;2065054;1939207;1909331;1657149;1657148;1427790;659588;479158;158022;146197;142009;134998;126863;122932;11438139;22619171;20346413;20565259;20553606;20709033;21174000;19913121;20628086;14699093;15207811;17976375;18223261;18329389;19363026;19465692;19574304;19712047;19800007;19801674;19821587;19850343;20056908;20112045;20143645;20152941;20346360;20655859;20702651;20140262;20095998;20617841;20726765;21510941;21680799;21072208;21755014;22507544;22987920;22732096;23071278;21236472;21316746;21464960;21467042;21300353;21787393;9786936;23103380;22124123;17203182;21802507;6980881;22027013;18624398;21543325;22685231;23341464;22773346;21832858;22079981;21998162;22147698;22187433;21900290;22518846;22287006;22641690;22677171;23118497;21988832;22996753;22832192;23576799;23140098;23071827;23150713;9102401;23449787 5340 A6PVI2;P00747;Q5TEH5 ABBA01015157;AK298338;AK308036;AK312966;AL109933;AMYH01016820;AY192161;BC060513;BU073846;CH471051;CR749293;DR004070;HI968587;K02921;K02922;M34276;M74220;NG_016200;NM_000301;NM_001168338;X05199 AAA36451;AAA60113;AAA60123;AAA60124;AAH60513;AAN85555;BAG35805;BAG60586;CAA28831;CAH18148;CBY88485;EAW47591;EAW47592;NP_000292;NP_001161810;P00747 Hs.143436 1646582;1673854;1769262;1846614;2116286;2117444;2143643;2152947;2168556;2190377;2217768;5016889;5093492;5113357;7186466 A009P38;D6S2067;D6S2151;EMT_F1R1;G17083;G32750;PLG_3841;RH1524;RH65147;RH69724;RH70350;RH79781;SHGC-33362;SHGC-33485 DKFZp779M0222 OTTHUMP00000017544;OTTHUMP00000017545;OTTHUMP00000197002;plasmin;plasminogen APPROVED protein-coding ENSG00000122194 9071 01417 173350;217090 REVIEWED 1606838 PLGLB2 plasminogen-like B2 2 2 p11.2 87828721 87840110 + 88047606 88058995 + 15815621;15489334;14702039;12477932;10092845;10069369;9074645;8012354;2714803;1986355;1554698;1379800;19913121;20628086 5342 Q02325 AC093616;AF075095;AI023399;AK124365;AMYH01010530;AMYH01010531;AMYH01010532;BC005379;BC022294;M93143;NM_002665 AAB06491;AAH05379;AAH22294;AAX82025;NP_002656;Q02325 Hs.652169 5015961;5016296;5016889;5022322;5024756;5113357;5123514;5126146 A007F21;A007H01;D11S2560;D15S1477;D2S2643;RH65147;RH79781;RH80030 PLGLB1;PLGP1 OTTHUMP00000160773;OTTHUMP00000203594;plasminogen pseudogene 1;plasminogen-like protein B;plasminogen-related protein B;type B plasminogen related protein-coding 9073 01416 VALIDATED 733482 PLIN1 perilipin 1 The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009] 15 15 q26 88008602 88023595 - 90207598 90222648 - 1303992;1581041;1581042;737723;1580863;6480464 15136565;15985482;15961705;11371650 9521880;19399648;19385027;19299455;19077438;19054096;18812483;18806092;18777456;18393390;18356850;18326614;18243128;18201980;18174481;17927964;17353663;16836753;16786163;16732015;16732014;16585946;16567422;16243839;15770500;15601970;15601966;15489334;15355432;15111493;15078502;15001633;14527948;12917496;12802495;12477932;12453889;11751901;22535977;20602615;19638644;19695247;19782423;19850727;20017959;20032580;20163070;20468064;20495294;19797618;20734064;21345103;23392103;21392418;22580060;21193293;22730012 5346 H0YM16;O60240 AB005293;ABBA01053019;AC013787;AMYH01006916;BC031084;BQ003487;CA427560;CB266260;CB266707;CH471101;NG_029172;NM_001145311;NM_002666 AAH31084;BAA25420;EAX02061;NP_001138783;NP_002657;O60240 Hs.103253 FPLD4;PERI;PLIN OTTHUMP00000194689;OTTHUMP00000228582;lipid droplet-associated protein;perilipin-1 2289631;2289635;2289636 BW503_H;BW504_H;BW505_H APPROVED protein-coding ENSG00000166819 9076 01364 170290;613877 REVIEWED 2881444 PLIN5 perilipin 5 Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010] 19 19 19 p13.3 4461329 4473994 - 4473543 4486208 - 4522543 4535208 - 6480464 22127648;22667335;12477932;17234449;19602560;19638644;21393244;21632259;23129790 440503 K7EIX1;K7ELW7;Q00G26 ABBA01056062;ABBA01056063;AC011498;AMYH01009337;AW445065;BC033570;BC131524;BX105717;DQ839131;NM_001013706 AAI31525;ABH07519;NP_001013728;Q00G26 Hs.131034 1680495;1682449;2129426;5126915 RH41861;RH48973;RH80514;RH91548 LSDA5;LSDP5;MLDP;OXPAT lipid storage droplet protein 5;perilipin-5 APPROVED protein-coding ENSG00000214456 33196 613248 VALIDATED 730882 PLIN2 perilipin 2 The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] 9 9 p22.1 19105759 19117573 - 19115759 19127604 - 1625752;1580863;6480464;6484113;7247722 17484887;19223006 9003395;19054096;18832575;18827892;18606814;18393390;18188946;17927964;17620659;17446422;17322100;17200350;16936283;16884492;16808905;16489205;16391323;16230742;15545278;15489334;15336557;14707038;14671211;12591929;12477932;12387890;12114189;9799447;1518805;22238364;15136565;19169702;19351497;19602560;19638644;19843633;19851831;20032580;20118912;20143336;20887090;15146197;20661576;7829101;22952953;22949030;22496505;21566511;14741744;18624398;20504295;21828233;21906983;23129790;22667335 123 E9PG83;Q5SYF3;Q5SYF4;Q5SYF5;Q6FHZ7;Q99541 ABBA01065216;AF443203;AK296125;AK297920;AK312983;AL591206;AMYH01019269;BC005127;BE311586;BI494696;CH471071;CN277218;CR536541;NM_001122;NR_038064;X97324 AAH05127;AAL35614;ABM83903;ABM87224;BAG35820;BAG58871;BAG60238;CAA65989;CAG38778;EAW58648;EAW58649;EAW58650;EAW58651;NP_001113;Q99541 Hs.3416 1797270;2152659 ADFP_2401;STS-W55904 ADFP;ADRP;MGC10598 OTTHUMP00000021107;adipophilin;adipose differentiation-related protein;perilipin-2 APPROVED protein-coding ENSG00000147872 248 00057 103195 REVIEWED 1316045 PLK1S1 polo-like kinase 1 substrate 1 The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] 20 20 20 p11.23 21183174 21303815 + 21054646 21175260 + 21106624 21227260 + 6480464 16980960;19536135;12477932;22797925 55857 B4DEC7;Q69YZ6;Q9NZ35 ABBA01054100;AF220187;AF451990;AK025476;AK293166;AK293567;AK295355;AK296399;AL110120;AL110196;AL117332;AL121759;AMYH01011768;BC013055;BC039296;BC045826;BC065550;BC090879;BC105093;BC113370;CH471133;DC386700;NG_033122;NM_001163022;NM_001163023;NM_001276389;NM_018474 AAF67652;AAH39296;AAH45826;AAH65550;AAH90879;AAI05094;AAI13371;AAP97689;BAG56710;BAG57038;BAG58321;BAG59066;CAH10726;EAX10188;EAX10189;EAX10190;EAX10191;EAX10192;EAX10193;NP_001156494;NP_001156495;NP_001263318;NP_060944;Q2M2Z5 Hs.187635 1655105;1668323;1725251;2114016;2184236 AB060251;RH118919;RH66519;STS-T79955;Z94688 C20orf19;DKFZp586H021;HT013;Kiz;Kizuna;MGC102941;MGC141930;NCRNA00153 centrosomal protein kizuna APPROVED protein-coding 15865 12760 REVIEWED 1347657 PLIN4 perilipin 4 Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010] 19 19 19 p13.3 4440384 4456502 - 4453192 4468716 - 4502192 4517716 - 6480464 12840023;12477932;11572484;22667335;19638644;20495294;21533135;21906983;22210160 729359 Q96Q06 AB067468;ABBA01056064;ABBA01056065;AC011498;AK295236;AMYH01009336;AMYH01009337;BC153818;NM_001080400 AAI53819;BAB67774;BAG58229;NP_001073869;Q96Q06 Hs.591387 1686951;1691030 RH80135;RH91513 KIAA1881;S3-12 OTTHUMP00000236186;adipocyte protein S3-12;perilipin-4 APPROVED protein-coding ENSG00000167676 29393 613247 PROVISIONAL 1350781 PLK3 polo-like kinase 3 Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both a catalytic domain and a putative regulatory domain. It may play a role in regulation of cell cycle progression and tumorigenesis. [provided by RefSeq, Jul 2008] 1 1 p34.1 45038623 45044254 + 45266036 45271667 + 1580863;2299942;2299941;6480464;6907045 15785925;14970859 19103756;8702627;18650425;18062778;17804415;17264206;16481012;16478733;16388739;16189514;15671037;15489334;15190214;15021912;14968113;12548019;12493754;12477932;12242661;11971976;11931760;11901158;11709713;11551930;11333986;11039900;10973490;10679924;10673501;10557092;10523297;9353331;9278512;16955485;18482256;19556223;20508983;20473878;20889502;20940307;21098032;20951827;19889641;22828320;11447225;14980500;19490146;21840391;22549466 1263 Q59ED6;Q9H4B4 AA421212;AB209875;ABBA01050908;AJ293866;AL592166;AMYH01000568;AY764184;BC004135;BC004198;BC013899;BC013960;CH471059;NM_004073;U56998 AAC50637;AAH13899;AAU88146;ACE87038;ACE87722;BAD93112;CAC10659;EAX07021;NP_004064;Q9H4B4 Hs.632415 1665001;1780204;2107943;2161173 AL009769;CNK_2805;SHGC-154623;SHGC-74733 CNK;FNK;PRK FGF-inducible kinase;OTTHUMP00000010159;PLK-3;cytokine-inducible kinase;cytokine-inducible serine/threonine-protein kinase;proliferation-related kinase;serine/threonine-protein kinase PLK3 APPROVED protein-coding ENSG00000173846 2154 04222 602913 VALIDATED 1343845 PLIN3 perilipin 3 Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009] 19 19 p13.3 4789346 4818676 - 4838346 4867780 - 1580863;6480464 20070608;20556887;9590177;19286631;18832575;18393390;17003132;16808905;16769818;16741517;15545278;15489334;15456905;15231748;14702039;12768012;12697764;12631276;12535272;12477932;12077142;12032303;11359012;11313361;10908666;10829017;10393528;9874244;8125298;6856484;15782153;22667335;16169070;16344560;18029348;19400954;19451273;19490898;19638644;21832049;22939629;14741744;12938929;18781797;21139048;21890473;21906983;22118674;19307600;18557900;20012524;21762802;22363329;22863883 10226 K7EJD0;K7EL96;K7ER39;K7ERZ3;O60664 ABBA01056037;ABBA01056038;ABBA01056039;AC027319;AF051314;AF051315;AF055574;AF057140;AK122671;AK223054;AK225045;AK225400;AK226088;AK291104;AK312740;AMYH01009347;BC001590;BC005818;BC007566;BC019278;BF222684;BF683925;BG339642;BQ057849;BQ063091;BQ276395;BT007235;CH471139;DB127412;DB248921;NG_028080;NM_001164189;NM_001164194;NM_005817 AAC39751;AAD11619;AAD11620;AAD11622;AAH01590;AAH05818;AAH07566;AAH19278;AAP35899;ABM83550;ABM86790;BAD96774;BAF83793;EAW69192;NP_001157661;NP_001157666;NP_005808;O60664 Hs.140452 2108221;2146438;2153388;5015619 D11S3114;M6PRBP1_9066;RH45134;SHGC-64930 M6PRBP1;MGC11117;MGC2012;PP17;TIP47 47 kDa MPR-binding protein;47 kDa mannose 6-phosphate receptor-binding protein;MPR-binding protein 47 kDa;cargo selection protein (mannose 6 phosphate receptor binding protein);cargo selection protein TIP47;mannose-6-phosphate receptor binding protein 1;mannose-6-phosphate receptor-binding protein 1;perilipin-3;placental protein 17;tail-interacting protein, 47 kD APPROVED protein-coding ENSG00000105355 16893 04080 602702 REVIEWED 1353801 PLK1 polo-like kinase 1 16 16 p12.2 23597702 23609189 + 23690201 23701688 + 1580863;2299937;2299940;2299939;2299941;2299938;2299942;6480464;6907045 18353325;15761500;15948124;14970859;16837776;15785925 21184800;12493754;15070733;15654075;16439210;18329369;8127874;9177283;10793135;11256614;15678101;11897663;12738781;12939256;15148369;15199097;15469984;19487276;19386263;19289504;19177004;19160488;19152411;19033445;19004025;18980975;18957422;18950845;18922800;18820703;18695677;18694934;18676680;18662541;18625707;18616938;18615013;18566290;18560274;18547964;18521620;18477460;18427546;18418051;18391401;18378770;18331714;18298903;18298087;18297112;18278450;18250300;18174154;18171681;18062778;18056432;17943598;17671160;17635521;17623655;17617734;17610829;17488623;17461553;17446864;17434144;17376779;17360533;17359284;17351902;17351640;17310276;17265445;17218258;17121863;17121839;17102638;16966375;16934469;16930555;16927022;16873548;16865274;16860740;16760428;16753148;16648550;16630118;16582488;17081991;17005603;16478733;16469711;16378098;16267267;16260496;16254247;16247472;16237758;16198290;16169070;16157594;16127294;15923617;15876876;15855824;15713655;21169242;15664519;15661849;15661742;15616186;15611664;15489334;15458642;15350223;15280449;15210710;15190079;15176053;15141022;15125835;15105433;15024021;15015605;14735186;14734534;14654792;14592974;14532005;12852857;12852856;12815053;12732729;12708489;12595692;12592388;12477932;12447691;12442251;12429910;12364337;12242661;12207013;12167714;12147700;22064247;22188812;12082631;12077309;12034729;12024051;11931760;11901158;11854496;11447294;11283617;11242082;11205743;11202906;11194558;11127806;10973490;10191277;9499405;9154840;9083047;8524282;8018557;7962193;7902533;7790358;7478607;10037602;16339216;14647413;15766665;22467873;18794143;21145461;22535524;22593191;22902628;23144294;20860994;11111111;18773538;20819778;21041660;11076968;12221128;16118204;16462731;16885021;16885022;16980960;17253180;17476331;17495026;18195732;19001871;19170196;19351716;19400994;19452252;19458358;19468300;19468302;19473992;19503101;19509060;19543530;19546225;19554017;19596235;19597481;19615732;19625176;19631697;19668228;19692168;19706541;19725153;19738611;19739117;19758559;19775446;19804365;19822658;19833129;20089605;20145140;20146883;20170163;20198330;20508983;19690138;19572149;20581060;23188630;20890306;20103597;20562859;19855194;20130082;20427271;20534861;20484576;20624918;16481748;19454010;20937827;21079244;20404504;20511645;19821153;20577264;20622363;20656208;20823832;20869364;20470222;20615875;20664522;20679239;21170987;22249248;22753241;21723128;21890624;21480320;20962589;20573420;21330050;21078677;11807090;22000864;22309939;22918237;23079597;23105120;22621898;22566210;23509069;21642957;21253604;21454580;21507953;21522128;21399492;21576470;21436619;21474997;21533207;21635870;21640712;21610149;21768102;21880710;22184120;21690413;21242189;21953073;21818122;22108192;22281053;22365832;17314511;22184200;12524548;20360068;21051833;21148584;20581453;21636267;21813642;21602893;21726628;21750699;21947279;12639966;21816470;21900206;21987589;19953087;21139048;21857030;21890473;21906983;23455152;22609948;22648245;21887822;21978935;22120675;22325354;22115795;21519187;21857149;17146433;22262171;22314839;22391203;22641346;22820163;22390279;22154349;22318606;22427657;22405092;21963094;21988832;22892842;23000965;23037713;23455478;20126263;23455922;23494182;15737063;19889641;21832049;22818914;22863584;22939629;23045552;21271384;22701722;22753416;22908307;18445273;22505724;22795848;22826617;22869522;22948661;22972498;23027877;23046929;23160376;23383273;23063527;8991084 5347 I3L2H5;I3L309;I3L387;P53350 AB084459;AB209179;ABBA01017072;AC008870;AK303263;AK308276;AK313227;AMYH01007384;BC002369;BC003002;BC014846;CH471145;FB665815;FB750126;L19559;NM_005030;U01038;U78073;X73458;X75932;X90725 AAA36659;AAA56634;AAB36946;AAH02369;AAH03002;AAH14846;ABM81971;ABM85150;BAD92416;BAD93352;BAG36038;BAG64345;CAA51837;CAA53536;CAA62260;CAS92530;CAT02195;EAW55803;EAW55804;EAW55805;EAW55806;NP_005021;P53350 Hs.592049 1771354;2109673;5112369 G06491;PLK1_8546;RH104431 PLK;STPK13 OTTHUMP00000122462;PLK-1;cell cycle regulated protein kinase;polo (Drosophia)-like kinase;polo like kinase;serine/threonine-protein kinase 13;serine/threonine-protein kinase PLK1 APPROVED protein-coding ENSG00000166851 9077 03652 602098 PROVISIONAL 2302687 PLK5 polo-like kinase 5 19 19 19 p13.3 1458103 1469377 + 1475079 1486455 + 1524073 1535455 + 6480464 16344560;15489334;14702039;12477932;10737800;20100802;20210993;21245385 126520 K7EL33;Q496M5 ABBA01002653;ABBA01002654;AC027307;AI651075;AK054808;AK122648;AMYH01009252;BC100791;BC100792;BC100793;BF364682;DA058511;DQ424898;NM_001243079 ABD83663;BAG51426;BAG53640;NP_001230008;Q496M5 Hs.195352 1764307;1777820;1788426 RH78029;SHGC-147922;fc09g10.x1 MGC118807;MGC118808;PLK-5;PLK5P;SgK384ps inactive serine/threonine-protein kinase PLK5;polo-like kinase 5;polo-like kinase 5, pseudogene APPROVED protein-coding ENSG00000185988 27001 VALIDATED 736785 PLLP plasmolipin 16 16 16 q13 41789697 41818338 - 55847511 55876071 - 57290009 57318584 - 1358792;1580863;6480464 15334603 15489334;12477932;11707781;7929173;17207965;16344560 51090 H3BN27;J3QLJ3;Q9Y342 ABBA01025266;ABBA01025267;AC009090;AC108081;AF137386;AK130584;AK289599;AK313910;AMYH01007697;BC002760;CH471092;DA366260;NM_015993 AAD33060;AAH02760;ADQ32856;BAF82288;BAG36633;EAW82915;EAW82916;EAW82917;NP_057077;Q9Y342 Hs.632215 1648030;1675899;1739887 D16S3008;G06198;RH91141 PMLP;TM4SF11 OTTHUMP00000164670;plasma membrane proteolipid (plasmolipin);plasmolipin;transmembrane 4 superfamily member 11 (plasmolipin) APPROVED protein-coding ENSG00000102934 18553 11854 600340 VALIDATED 1313392 PLK4 polo-like kinase 4 This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 4 4 q28 129021495 129039803 + 128802016 128820379 + 1580863;6480464 16189514;10607900;19454482;19001868;18239451;17681131;16326102;16244668;15967108;22349698;15761153;15489334;15342556;12477932;11597015;11489907;8274451;20032307;21590086;11076968;12221128;12852856;16462731;19679553;20348415;20508983;7790358;20923822;20516151;21059844;21059850;23249732;21297952;21609466;23019411;21725316;21139048;22456511;21900206;22318606;22829937 10733 H0YAL6;J3KR82;J3KR84;O00444 AB006972;ABBA01044795;AC107053;AI088969;AK302858;AK303399;AK314238;AMYH01014509;BC036023;BP328161;BU633758;CH471056;DC402409;NM_001190799;NM_001190801;NM_014264;Y13115;Z25433 AAH36023;ABM85115;BAB69958;BAG36907;BAH13823;BAH13953;CAA73575;CAA80920;EAX05196;NP_001177728;NP_001177730;NP_055079;O00444 Hs.172052 1665159;2169554 HSCZYB062;SHGC-50513 SAK;STK18 OTTHUMP00000164423;OTTHUMP00000219883;OTTHUMP00000219884;OTTHUMP00000219885;OTTHUMP00000219886;PLK-4;Snk akin kinase;serine/threonine kinase 18;serine/threonine protein kinase SAK;serine/threonine-protein kinase 18;serine/threonine-protein kinase PLK4;serine/threonine-protein kinase Sak APPROVED protein-coding ENSG00000142731 11397 10387 605031 REVIEWED 1348089 PLK2 polo-like kinase 2 The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 5 5 q12.1-q13.2 57785566 57791670 - 57749809 57755966 - 1580863;6480464 14702039;12972611;12897130;12651910;12477932;11716500;11696980;11039900;10557092;10523297;16169070;12761501;19004816;19001868;17912033;17706602;17671831;16344560;16203730;15489334;22988096;20531387;19506885;19706541;19834535;20054236;20056645;20508983;20352051;21067440;21402713;21340720;15242618;20360068;8889549;19953087;21906983;22138223;22134238;22248692;22100274;22289679;22318606;21963094;21988832;22399798;19597481;23466428;19889641;21832049;22828320 10769 Q9NYY3 AA469989;AA954432;ABBA01015787;AC008814;AF059617;AF223574;AI655395;AK027851;AK098163;AK297298;AK312505;AMYH01015100;BC013879;BF437296;BI559351;CH471123;DA020501;FB665825;FB750136;N66865;NM_001252226;NM_006622;U85755 AAC14573;AAD00575;AAF62897;AAH13879;ABM84579;ABM86756;BAC05247;BAG59766;CAS92534;CAT02199;EAW54972;EAW54973;NP_001239155;NP_006613;Q9NYY3 Hs.398157 1665550;1772058;5095022 HSC1XG062;IB1671;PLK2 SNK;hPlk2;hSNK OTTHUMP00000122549;PLK-2;serine/threonine-protein kinase PLK2;serine/threonine-protein kinase SNK;serum-inducible kinase APPROVED protein-coding ENSG00000145632 19699 06118 607023 REVIEWED 1349244 PLN phospholamban The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure. [provided by RefSeq, Jul 2008] 6 6 q22.1 118976165 118988280 + 118869442 118881587 + 1580215;1580863;6480464;6907045;7240710;7240708 16432188;23091085 15598648;8406504;19324307;19305409;19305408;19139388;18708665;18241046;18192322;17905829;17766390;17655857;17515962;17010801;17009399;16829191;16476846;16382369;16235537;16043693;15736939;15640069;15489334;15342556;14530977;12804600;12692302;12639993;12610310;12525698;12480535;12477932;12080135;12032137;11854448;11526231;10809745;10551848;10198197;10096878;9845327;9512019;9468536;9345259;8862513;7779806;7749920;12705874;7586307;3759968;1828805;22155237;22427649;20639392;21076409;19584346;19587794;19638213;19671701;19708671;19875404;20474083;20634894;21108950;21167350;21282613;21332051;21576492;22137083;22172806;22247554;21687864;20301486;20301725;23308118;21988832;22820313;23166209 5350 P26678;Q5R352 ABBA01026028;AF177764;AK311799;AMYH01016623;BC005269;BP259965;CH471051;M60411;M63603;NG_009082;NG_021248;NM_002667;Z99496 AAA60083;AAA60109;AAD55950;AAH05269;ABM83960;ABM87145;BAG34742;EAW48198;NP_002658;P26678 Hs.170839 1696386;1735598;1753485;1777872;2164696;5122563 D12S1940;D6S1145E;D6S1147E;RH44514;SHGC-107437;SHGC-77838 CMD1P;CMH18;PLB OTTHUMP00000017092;cardiac phospholamban APPROVED protein-coding ENSG00000198523 9080 01395 172405;609909;613874 REVIEWED 1353726 PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] 1 1 p36.22 11917333 11958181 + 11994724 12035599 + 1599090;2314536;6480464;6907045;7240710 11714250;15817667 1577494;8449506;15174142;17390085;16758144;16710414;16344560;15979919;15854030;15489334;14565595;12477932;12452796;11956192;10748089;10686424;9738467;9617436;8621606;8163671;7713497;6229534;5027136;1345174;1335016;1184396;1148262;798297;194639;21145461;20628624;19442614;20301635;22863883;22939629;20811636;20000738;21527992;21987572;18781797;20360068;21139048;17170699;22001912;21252943;16009940;21628590;22586326;22174317;22190034;22268729;23022198 5351 B4DR87;Q02809;Q5JXB7;Q5JXB8;Q5JXB9 ABBA01003063;ABBA01003064;ABBA01003065;ABBA01003066;AF081786;AF490527;AK124035;AK294688;AK295254;AK299150;AK312243;AK316285;AL096840;AMYH01000259;AMYH01000260;AU139472;BC016657;BQ447373;CH471130;DC334246;M98252;NG_008159;NM_000302 AAD52693;AAH16657;AAM12752;BAG35176;BAG57849;BAG58243;BAG61199;BAH14656;EAW71724;EAW71725;NP_000293;Q02809 Hs.75093 1744673;2118499;2141898;2149848;2191555;2219512;5020881;5024413;5491928 G16245;GDB:549202;L17709;L17877;MARC_26192-26193:1030722241:1;MARC_65458-65459:1186500885:3;PLOD__5723;RH11431;SHGC-30062 EDS6;FLJ42041;LH;LH1;LLH;PLOD OTTHUMP00000002512;lysine hydroxylase;lysyl hydroxlase 1;procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1;procollagen-lysine, 2-oxoglutarate 5-dioxygenase;procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 APPROVED protein-coding ENSG00000083444 9081 01086 153454;225400 REVIEWED 6481409 PLS1-AS1 PLS1 antisense RNA 1 100873943 AC072028 APPROVED miscrna 40451 732304 PLP1 proteolipid protein 1 This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008] X X q22 102918410 102934204 + 103031439 103047548 + 1358559;1358783;1358781;1358782;6480464;7240710 10425042;14572140;2479544;434110 7684886;7522741;6083474;12477932;12325077;12297985;12237860;12196561;12107410;11872612;11093273;10767322;10520936;10417279;10319897;10203813;9934976;9894878;9858696;9788732;9747038;9728768;9633722;9489796;9247276;9143933;9008538;8956049;8909455;8780101;8765335;8696336;8012387;7684945;2479017;19396823;19244236;19151366;19024090;18604471;18555697;18470932;18437021;18190592;17962415;17438221;17420921;17171701;16774974;16416265;16380909;16374829;16287154;16130097;15837131;15772651;15753308;15712223;15694262;15627202;15489334;15450775;15009677;14702039;12805210;12601703;12491939;7683951;7679906;7573159;7541731;7539213;7531827;6201756;4041237;3840606;3768366;3467339;3457761;2773936;2480601;2467009;2449536;2441695;1715570;1711121;1708672;1707231;1384324;1376966;20629189;19328639;19376225;19562355;19825935;19955111;20036320;20186781;20437587;21082496;21127064;17500595;21573057;20885931;21177054;21679407;23344956;20301361;22343157;22695888;21623770;22902553;23142642;22750001;22511562 5354 A8K9L3;B1B1G1;B1B1G2;B1B1G3;B1B1G4;B1B1G5;B1B1G6;P60201 ABBA01032865;ABBA01032866;ABBA01032867;AI205189;AJ006976;AK128782;AK292728;AK295374;AK295388;AK308966;AK309239;AK312340;AMYH01022798;AV731932;BC002665;BC095452;BQ717999;BQ723748;BT019601;BT019602;BX445448;CA389667;CH471190;CR536542;D13320;DC342996;EB387051;M15032;M17085;M27110;M54927;NG_008863;NM_000533;NM_001128834;NM_199478;S55837;S62086;Z73964 AAA59565;AAA60117;AAA60118;AAA60350;AAB26927;AAD13880;AAH02665;AAH95452;AAV38408;AAV38409;BAA02577;BAF85417;BAG35261;BAG58333;BAG58342;CAA07364;CAG38779;EAW54690;EAW54691;EAW54692;EAW54693;EAW54694;NP_000524;NP_001122306;NP_955772;P60201 Hs.1787 1702988;1705614;1742291;1743685;1794320;1796530;2118844;2130865;2155722;2220280;5022004;5107467 D4Ulb4;DXS8149;DXS9790;GDB:192494;GDB:195175;GDB:370833;MARC_4943-4944:991939012:3;PHKA2;PLP1_1059;PMC311008P1;SHGC-63459;SHGC-83004 GPM6C;HLD1;MMPL;PLP;PLP/DM20;PMD;SPG2 OTTHUMP00000023761;OTTHUMP00000023762;lipophilin;major myelin proteolipid protein;myelin proteolipid protein;proteolipid protein;proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) APPROVED protein-coding ENSG00000123560 9086 02321 300401;312080;312920 REVIEWED 1346467 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] 7 7 q22 100635978 100647731 - 100849258 100861011 - 1580863;2314536;6480464;6907045;7240710 15817667 9724729;16189514;18834968;16447251;16303743;15489334;12853948;12477932;12475640;11956192;11334715;10934207;10686427;9582318;21145461;20955792;20562859;17643375;18298658;22939629;17314511;19156129;18781797;21465473;21942715;21987572;21139048;21693764;21906983;16009940;21628590;22268729 8985 C9JIX5;C9JU11;H7C0B8;H7C2A8;H7C2S8;H7C2V1;O60568;Q9UG85 ABBA01011341;ABBA01011342;ABBA01011343;AC004876;AF046889;AF068229;AF207069;AK075338;AK297559;AK298537;AK312743;AL049952;AMYH01017751;AY220458;BC011674;BC018946;BF941815;CH471197;NG_012148;NM_001084 AAC34808;AAC39753;AAD45831;AAF63701;AAH11674;AAO61775;BAG35613;BAG52115;BAG59952;BAG60737;CAB43221;EAW50205;NP_001075;O60568 Hs.153357 1770674;2109675;2165896 A002S06;PLOD3_8880;WI-8602 LH3 OTTHUMP00000211487;lysine hydroxylase 3;lysyl hydroxlase 3;lysyl hydroxylase 3;procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 APPROVED protein-coding ENSG00000106397 9083 04347 603066;612394 REVIEWED 1606836 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 q24 147269917 147361972 - 145787227 145879282 - 2314536;6480464;6907045;7240710 15817667 9054364;17353931;15174142;16934803;15955452;15694128;15589118;15523625;15523624;15489334;12881513;12477932;11956192;11334715;10748089;10701773;10372558;9271685;8889548;19913121;20628086;20628624;17643375;19110540;19762917;20131247;20811636;22863883;22689593;22098155;23097496;23246001;20360068;21139048;21890473;21942715;23423382;22190034;22268729;23251661 5352 B3KWS3;C9JXZ0;E7ETU9;F8WEW3;O00469 AB209879;ABBA01058988;AC092982;AC107021;AF085277;AK125700;AK130098;AK295084;AL832238;AMYH01013563;AY026757;BC016834;BC037169;BM724669;BX537521;CH471052;NG_009251;NM_000935;NM_182943;U84573 AAB58363;AAD40977;AAH16834;AAH37169;AAK20119;BAD93116;BAG54235;BAG58125;EAW78939;EAW78940;EAW78941;NP_000926;NP_891988;O00469 Hs.477866 1643832;1645127;1671804;1848688;2132280 D3S3410;G16641;G29915;RH78870;STS-N98463 LH2;TLH OTTHUMP00000215204;OTTHUMP00000215205;OTTHUMP00000215206;lysine hydroxylase 2;lysyl hydroxlase 2;lysyl hydroxylase 2;procollagen-lysine,2-oxoglutarate 5-dioxygenase 2;telopeptide lysyl hydroxylase APPROVED protein-coding ENSG00000152952 9082 03519 601865;609220 REVIEWED 1349250 PLP2 proteolipid protein 2 (colonic epithelium-enriched) This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked mental retardation. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010] X X X p11.23 52632900 52636185 - 48915217 48918382 + 49028184 49031469 + 1580863;6480464 15474493;9124532;17416750;15862967;15489334;12529377;12477932;9344658;8470895;7622043;16169070;16344560;22939629;18781797;21139048 5355 Q04941 ABBA01046131;AC232271;AF196779;AMYH01022293;BC109066;CH471224;DB220888;L09604;NG_016420;NM_002668;U93305 AAA35499;AAB92356;AAI09067;EAW50689;EAW50690;NP_002659;Q04941 Hs.77422 1647517;5015861;5091249 D10S16;DXS9735;STS-L09604 A4;A4-LSB;A4LSB;MGC126187 A4 differentiation-dependent protein;OTTHUMP00000023277;differentiation-dependent protein A4;intestinal membrane A4 protein;proteolipid protein 2 APPROVED protein-coding ENSG00000102007 9087 02121 300112 REVIEWED 733629 PLRG1 pleiotropic regulator 1 This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 4 4 4 q31.2-q32.1 152789011 152802847 - 155677112 155690973 - 155456149 155471585 - 1580863;6480464;6907045 17353931;9765207;15635413;15489334;14702039;14576297;12477932;12176931;11544257;17332742;17276391;21145461;11101529;19615732;15342556;19838058;20176811;9731529;20467437;20211142;21385873;11991638;16159877;20508642;21832049;22939629;23022480;22990118;16196087;20360068;21139048;21890473;21906983;21963094;21757653;21628590;21536736;22174317;22505724 5356 A8MW61;B7Z982;D6RA26;D6RE04;H0YA24;H0YAA2;O43660 ABBA01070157;AC107385;AF044333;AK002108;AK304574;AK307997;AMYH01014633;AW291931;BC020786;BC036046;BC106004;BP314297;CH471056;NM_001201564;NM_002669 AAD09407;AAH20786;AAI06005;BAG51016;BAH14218;EAX04940;EAX04941;NP_001188493;NP_002660;O43660 Hs.249996 1654893;1660699;1668269;1853420;2173214 D4S2786;D4S2899;SHGC-24137;SHGC-59765;WIAF-1589 Cwc1;MGC110980;PRL1;PRPF46;Prp46;TANGO4 OTTHUMP00000220176;OTTHUMP00000220178;pleiotropic regulator 1;pleiotropic regulator 1 (PRL1 homolog, Arabidopsis);pleiotropic regulator 1 (PRL1, Arabidopsis homolog);transport and golgi organization 4 homolog APPROVED protein-coding ENSG00000171566 9089 16181 605961 REVIEWED 1316159 PLS1 plastin 1 Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010] 3 3 3 q23 140738741 140856000 + 143825034 143915191 + 142315229 142432506 + 1580863;6480464 8139549;16344560;15342556;12477932;8428952;8336074;7655078;3211125;2111166;12119179;21490949;8889548;22863883;16196087;21139048;21906983;16009940;22190034;22505724 5357 C9J0F3;C9J359;C9JAM3;C9JAM8;C9JU08;C9JVY2;C9JYI1;Q14651 AA933088;ABBA01059022;ABBA01059023;AC072028;AC134509;AK290316;AMYH01013547;AMYH01013548;BC031083;BM263745;BP262012;CB240816;CH471052;DA427212;L20826;NM_001145319;NM_001172312;NM_002670 AAA19869;AAH31083;ABW03907;BAF83005;EAW78965;EAW78966;EAW78967;NP_001138791;NP_001165783;NP_002661;Q14651 Hs.203637 1712635;2115605 RH120168;SHGC-12872 Plastin-1 I plastin;OTTHUMP00000214728;OTTHUMP00000214729;OTTHUMP00000214730;fimbrin;intestine specific plastin;intestine-specific plastin;plastin-1 APPROVED protein-coding ENSG00000120756 9090 04110 602734 REVIEWED 6481306 PLSCR5-AS1 PLSCR5 antisense RNA 1 100874104 AC116544 APPROVED miscrna 40907 1353834 PLSCR2 phospholipid scramblase 2 This gene encodes a member of the phospholipid scramblase family. Phospholipid scramblases are membrane proteins that mediate calcium-dependent, non-specific movement of plasma membrane phospholipids and phosphatidylserine exposure. The encoded protein contains a low affinity calcium binding motif and may play a role in blood coagulation and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 3 3 3 q24 144568109 144630745 - 147633772 147696412 - 146151075 146213778 - 1580863;6480464 10930526;15489334;12477932;19540310 57047 C9J636;F8WEZ1;Q7Z4L7;Q9NRY7 AA813518;ABBA01058981;AC069528;AF159441;AK301909;AMYH01013563;BC055415;BC069785;BC120969;BC141969;CH471052;NM_001199978;NM_001199979 AAF91082;AAH55415;AAH69785;AAI20970;AAI41970;BAG63335;EAW78931;EAW78932;NP_001186907;NP_001186908;Q9NRY7 Hs.744414 1654797 SHGC-10884 OTTHUMP00000215257;OTTHUMP00000215258;OTTHUMP00000215259;PL scramblase 2;ca(2+)-dependent phospholipid scramblase 2;phospholipid scramblase 2 APPROVED protein-coding ENSG00000163746 16494 09621 607610 REVIEWED 1349492 PLSCR5 phospholipid scramblase family, member 5 3 3 3 q24 144720660 144741039 - 147786315 147806693 - 146303625 146324003 - 12477932;22589738 389158 A0PG75;B2RXK5 ABBA01058981;AC116544;AMYH01013563;AY436642;BC157886;BC171917;NM_001085420 A0PG75;AAI57887;AAI71917;AAR99737;NP_001078889 Hs.254692 OTTHUMP00000215326;OTTHUMP00000215327;OTTHUMP00000215328;phospholipid scramblase family member 5 protein-coding ENSG00000231213 19952 VALIDATED 731591 PLS3 plastin 3 Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] X X q23 114701765 114791246 + 114795177 114885181 + 1580863;6480464 16115810;17353931;18569641;18440926;16142308;15741236;15489334;15342556;14612505;14567899;12477932;9302997;8428952;8125298;7806577;4053036;3211125;2378651;12119179;21145461;22627769;20937953;20360068;22863883;23150633;21832049;22939629;19135240;17370265;18781797;21139048;21890473;21906983;21907836;16009940;22495182;20085233;22053931;23429988;14756805;23378342;17676665;22505724 5358 B4DGB4;B4DI60;B4DPW9;B7Z6M1;F2Z2Z9;F8W8D8;H7C4N2;P13797 ABBA01053698;ABBA01053699;ABBA01053700;ABBA01053701;ABBA01053702;ABBA01053703;ABBA01053704;ABBA01053705;ABBA01053706;ABBA01053707;ABBA01053708;ABBA01053709;AC003983;AC005000;AK222801;AK294385;AK294509;AK295429;AK298501;AK298530;AK300575;AK311211;AK311397;AK312391;AL589842;AMYH01022855;BC008588;BC039049;BC056898;BC150494;BP214207;CH471120;DC320695;DC357886;DC416446;L05491;M22299;M34427;NG_012518;NM_001136025;NM_001172335;NM_005032 AAA36759;AAA61214;AAB02844;AAH08588;AAH39049;AAH56898;AAI50495;ABM82096;ABM85279;BAD96521;BAG35308;BAG57642;BAG57725;BAG58372;BAG60708;BAG60731;BAH13307;EAX02614;NP_001129497;NP_001165806;NP_005023;P13797 Hs.496622 1654009;1691676;1700318;1717425;1739757;1855108;2133321;2153563 AL008905;AL008933;AL031573;AL032606;DXS7571E;RH103779;RH122203;STS-AA004696 DKFZp686G1497;T-plastin OTTHUMP00000023876;OTTHUMP00000215746;T fimbrin;T plastin;plastin 3 (t-isoform);plastin-3 APPROVED protein-coding ENSG00000102024 9091 02133 300131 REVIEWED 1323284 PLSCR4 phospholipid scramblase 4 3 3 3 q24 144327454 144385997 - 147392816 147451560 - 145910122 145968966 - 1580863;6480464 15342556;21690087;18256029;19540310;20379614;10930526;19333378;16344560;16189514;15489334;12477932;23088713;21139048;23089641 57088 C9J3P9;C9J664;C9J6E1;C9J916;C9JNW2;E9PHR9;Q9NRQ2 ABBA01058987;AC092982;AF087887;AF199023;AK128442;AK290214;AK292815;AK312809;AL833760;AMYH01013563;AW086426;AW665992;AY550971;BC028354;BG538024;BI598345;BP201782;BU160106;BU567842;CH471052;DA185957;DA444235;NM_001128304;NM_001128305;NM_001128306;NM_001177304;NM_020353 AAF89960;AAH28354;AAP97186;AAT52217;ABM92224;ABW03341;BAC87442;BAF82903;BAF85504;BAG35667;CAH56232;EAW78935;EAW78936;EAW78937;EAW78938;NP_001121776;NP_001121777;NP_001121778;NP_001170775;NP_065086;Q9NRQ2 Hs.477869 5107631 SHGC-56800 TRA1 Ca(2+)-dependent phospholipid scramblase 4;OTTHUMP00000215194;OTTHUMP00000215195;OTTHUMP00000215196;OTTHUMP00000215197;OTTHUMP00000215198;OTTHUMP00000215199;OTTHUMP00000215200;PL scramblase 4;cell growth inhibiting protein 43;phospholipid scramblase 4 protein-coding ENSG00000114698 16497 07401 607612 VALIDATED 1350472 PLSCR1 phospholipid scramblase 1 3 3 q23 147715658 147745186 - 146232967 146262628 - 1580863;6480464 18654987;16713569;16260419;16091359;15611084;15489334;15308695;15308560;15035622;14766753;14654079;12871937;12605885;12586838;12564925;12477932;12031648;12023963;12010804;12009895;11809687;11390389;10930526;9218461;16189514;19333378;18579528;17712045;10869562;10770950;10753839;9712717;9572851;9485382;8663431;20870722;20516018;19540310;20926691;21963094;21988832;22190034;23426682;21832049;22893466;23088713;17567603;18629440;21806988;20927484;23590222;21139048;21890473;21906983;21987572;21900206;21958383;22264514;22052202;22342889;22526829;23501106;22789739 5359 B4DTE8;C9J0H3;C9J7K9;C9J9P4;C9JE06;C9JSI9;F2Z3F2;H7C5I5;O15162 AB006746;ABBA01058981;AC069528;AC116544;AF098642;AF153715;AF224492;AK300181;AK313377;AMYH01013563;BC017901;BC021100;BC032718;BC070251;CH471052;DR005513;JA738777;NM_021105 AAC99413;AAF80593;AAH17901;AAH21100;AAH32718;AAH70251;ABM81805;ABM84959;BAA32568;BAG36175;BAG61960;CCF77041;EAW78923;EAW78924;EAW78925;EAW78926;EAW78927;EAW78928;EAW78929;EAW78930;NP_066928;O15162 Hs.130759 1793542;1853962;2148512;2152550;2156844;2219514 PLSCR1__5724;PMC229255P5;SGC32718;SHGC-77431;SHGC-77437;STS-N33501 MMTRA1B OTTHUMP00000215253;OTTHUMP00000215254;OTTHUMP00000215255;OTTHUMP00000215311;OTTHUMP00000215316;PL scramblase 1;ca(2+)-dependent phospholipid scramblase 1;erythrocyte phospholipid scramblase;phospholipid scramblase 1 protein-coding ENSG00000188313 9092 08855 604170 VALIDATED 1315960 PLSCR3 phospholipid scramblase 3 17 17 17 p13.1 7318970 7323756 - 7233779 7238567 - 7293046 7298162 - 1580863;6480464 15489334;10930526;18491232;18256029;17226776;16939411;16189514;14702039;14573790;12649167;12477932;19540310;19333378;19953087;21139048;21906983 57048 I3L161;I3L1P6;I3L1V1;I3L3X5;I3L4F5;I3NI29;Q9NRY6 ABBA01054862;AC113189;AF159442;AF289602;AK075188;AK098229;AK124006;AK314643;AMYH01008078;BC011735;BC028080;BC093026;BG830095;CH471108;CQ783273;CX785894;NM_001201576;NM_020360 AAF91083;AAH11735;AAH93026;AAL55786;ABM84339;ABM87732;BAC11458;BAG37205;CAF86478;EAW90198;EAW90200;EAW90202;NP_001188505;NP_065093;Q9NRY6 Hs.534591;Hs.736428 1678393;1681516;2117142;2219516 PLSCR3__5725;RH17416;RH79604;RH93312 PL scramblase 3;ca(2+)-dependent phospholipid scramblase 3;phospholipid scramblase 3 protein-coding ENSG00000187838 16495 07400 607611 VALIDATED 1349180 PLXNA3 plexin A3 The protein encoded by this gene is a member of the plexin class of proteins. The encoded protein is a transmembrane protein that is exposed on the cell surface. This gene is thought to be involved in epithelial and neural tissue development. [provided by RefSeq, May 2010] X X X q28 153847674 153863036 + 153339817 153355179 + 153686623 153701985 + 1580863;6480464 8570614;15203218;15146197;10737800;10520995;8806646;8733135;8281148;8248200;11604131;19480842;19909241;21900206;21925246 55558 P51805 ABBA01045277;ABBA01045278;AC244090;AMYH01023318;BF798844;BX936365;CB528571;CD365141;CD628272;CH471172;CN427843;CN427844;CN427848;NG_021298;NM_017514;X74609;X87197;X87852 AAI56374;AAI72494;CAA61132;EAW72702;EAW72703;NP_059984;P51805 Hs.632839 1664107;1798648;1798740;1799028;1799132;1799186;1799444;1799690;1799744;1799974;1800456;1800500;1800740;1801122;1802538;1818424;1821518;2037274;2037276;2037278;2037280;2037282;2037284;2037286;2037288;2037290;2037292;2037294;2037296;2037298;2037300;2037302;2037304;2037306;2037308;2037310;2037312;2037314;2037316;2037318;2037320;2037322;2037324;2037326;2037328;2037330;2037332;2037334;2037336;2037338;2037340;2037342;2037344;2037346;2037348;2037350;2037352;2037354;2037356;2037358;2037360;2037362;2037364;2037366;2037368;2037370;2037372;2037374;2037376;2037378;2037380;2037382;2037384;2037386;2037388;2037390;2037392;2037394;2037396;2037398;2037400;2037402;2037404;2037406;2037408;2037410;2037412;2037414;2037416;2102564;2102566;2102568;2102570;2102572;2102574;2102576;2102578 ECD00164;ECD00210;ECD00359;ECD00412;ECD00441;ECD00573;ECD00699;ECD00726;ECD00841;ECD01088;ECD01110;ECD01231;ECD01433;ECD02155;ECD10270;ECD11845;REN89648;REN89649;REN89650;REN89651;REN89652;REN89653;REN89654;REN89655;REN89656;REN89657;REN89658;REN89659;REN89660;REN89661;REN89662;REN89663;REN89664;REN89665;REN89666;REN89667;REN89668;REN89669;REN89670;REN89671;REN89672;REN89673;REN89674;REN89675;REN89676;REN89677;REN89678;REN89679;REN89680;REN89681;REN89682;REN89683;REN89684;REN89685;REN89686;REN89687;REN89688;REN89689;REN89690;REN89691;REN89692;REN89693;REN89694;REN89695;REN89696;REN89697;REN89698;REN89699;REN89700;REN89701;REN89702;REN89703;REN89704;REN89705;REN89706;REN89707;REN89708;REN89709;REN89710;REN89711;REN89712;REN89713;REN89714;REN89715;REN89716;REN89717;REN89718;REN89719;WI-13459;stSG604067;stSG604068;stSG604071;stSG604073;stSG604074;stSG604075;stSG604076;stSG604077 6.3;HSSEXGENE;PLEXIN-A3;PLXN3;PLXN4;SEX;XAP-6 OTTHUMP00000032114;Sex chromosome X transmembrane protein of HGF receptor family 3;plexin-4;plexin-A3;semaphorin receptor SEX APPROVED protein-coding ENSG00000130827 9101 02062 300022 REVIEWED 1351830 PLXNA4A plexin A4, A q32.3 1580863;6480464 15489334;14702039;12975309;12853948;12690205;10997877;10520995;9074931;12110185 57671 AA076688;AA076883;AA076904;AA077578;AA077700;AB046770;AK092345;AK095606;AL834504;CH236950 BAB13376;BAC03866;BAC04587;CAD39161;EAL24077;Q8NAP5;Q9HCM2 Hs.511454 1338834;1646605;1647017;1648914;1652997;1669071;1707100;1757383;1773561;1786252;1786470;1786472;1849651;2119509;2128677;2132343;2136259;2136681;2137847;2147892;2152295;2160630;2161041;7185680 1248;A002T25;AFMa240wc9;D7S1804;D7S512;D7S556E;G09882;G17193;GDB:1318448;GDB:4585001;GDB:4585040;GDB:4585113;GDB:4585279;GDB:4585401;GDB:4585426;GDB:4585449;GDB:4585531;GDB:4585647;SHGC-143876;SHGC-144776;SHGC-172821;SHGC-172834;SHGC-81312;STS-M78506 DKFZp566O0546;FLJ35026;FLJ38287;PLEXA4;PLXNA4 protein-coding 9102 1315460 PLTP phospholipid transfer protein The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.12 43960804 43974193 - 44527259 44541003 - 1581040;1581038;1581039;1600654;1580863;6480464 14993244;14695459;12835223;16258026 7654777;19060906;19013296;18660489;18287097;17921435;17917406;17900150;17761633;17553507;17495597;17303779;17272752;17260960;16862459;16770077;16644710;16520487;16389649;16388083;16335952;16006562;15953936;15924430;15845396;15795933;15544352;15489334;15448094;15166780;14702039;14559902;12966036;12893687;12837922;12810820;12754275;12730304;12693940;12649089;12612088;12531890;12477932;12086920;11861670;11854286;11780052;11716766;10333293;10191289;9624168;9469594;9110174;8647810;8619474;18421000;8554588;8132678;8125298;7490104;21303701;22492872;20534134;19913121;20571754;20628086;20644014;20714154;20382708;20088939;20714348;20855565;20972250;20724654;20805453;20937151;17877759;19100548;19135989;19422933;19446293;19472218;19948975;19965587;20031551;20108050;20167577;21782857;21252068;21454568;21515415;21514421;21481395;22090281;23313246;22034170;21973210;20686565;22286219;23128233;21736953;22916037 5360 B3KUE5;B4DDD5;P55058 AB076694;ABBA01052670;AF052157;AK092397;AK092523;AK097009;AK222690;AK289371;AK293150;AK299181;AL008726;AMYH01011939;AY509570;BC005045;BC019847;BC019898;CH471077;L26232;NG_012115;NM_001242920;NM_001242921;NM_006227;NM_182676;U38950 AAA36443;AAH05045;AAH19847;AAH19898;AAR87775;ABM82724;ABM85907;BAB79630;BAD96410;BAF82060;BAG53407;BAG56696;BAG61226;EAW75781;EAW75782;EAW75783;EAW75784;EAW75785;EAW75786;EAW75787;NP_001229849;NP_001229850;NP_006218;NP_872617;P55058 Hs.439312 1669052;1775941;2139751;2140703;2154561 AL022251;Cda16d10;D20S1030;RH66081;STS-M22960 BPIFE;HDLCQ9 BPI fold containing family E;OTTHUMP00000031678;OTTHUMP00000031679;OTTHUMP00000214864;OTTHUMP00000214865;OTTHUMP00000214866;lipid transfer protein II;phospholipid transfer protein APPROVED protein-coding ENSG00000100979 9093 01399 172425 REVIEWED 1353643 PLVAP plasmalemma vesicle associated protein 19 19 p13.2 17323264 17349137 - 17462264 17488137 - 6480464 16278383;15971170;15489334;15155804;14702039;12477932;12475376;11401446;10366592;22627768;18029348;19420356;20979949;17207965;21827737 83483 M0QXT5;M0R310;Q9BX97 ABBA01051193;ABBA01051194;ABBA01051195;ABBA01051196;ABBA01051197;AC010319;AC010463;AF326591;AF348827;AK074054;AK096030;AK313837;AL834363;AMYH01009571;BC050365;BC056414;CH471106;D83199;NM_031310 AAH50365;AAH56414;AAK11226;AAK20040;ADQ32218;BAB84880;BAC04681;CAD39027;EAW84600;NP_112600;Q9BX97 Hs.107125 1768367;1852596 RH66747;STS-AA010816 FELS;PV-1;PV1;gp68 fenestrated endothelial-linked structure protein;fenestrated-endothelial linked structure protein; PV-1 protein;plasmalemma vesicle protein 1;plasmalemma vesicle-associated protein protein-coding ENSG00000130300 13635 09626 607647 PROVISIONAL 1352937 PLXDC1 plexin domain containing 1 17 17 17 q21.1 33880385 33968781 - 34473082 34561298 - 37219556 37307902 - 1580863;6480464 10947988;18316703;17560052;16344560;15574754;15489334;14702039;12477932;11559528;9110174;8619474;16574105;20032373;20379614;21958527 57125 B3KSI0;B4E173;C9JCL2;C9JWQ3;J3KS04;J3QR40;J3QRR7;Q8IUK5 ABBA01031884;ABBA01031885;ABBA01031886;AC004408;AC091178;AF070526;AF279144;AF378753;AK093589;AK127539;AK303699;AK312999;AL833517;AMYH01008373;AY704670;AY704671;AY704672;BC036059;CH471152;DA205327;NM_020405 AAG00869;AAH36059;AAL11990;AAV85657;AAV85658;AAV85659;ACE86780;ACE87466;BAC87025;BAG35835;BAG52742;BAG64685;EAW60551;EAW60552;EAW60553;NP_065138;Q8IUK5 Hs.125036 1651275;1656128;1696460;1729237;1729239;1731995;1742965;1760691;1777262;2146537;2156016;2161580;2182870;5015404;5022578;5095696;7187012 A004S34;D17S2091;D17S614;D17S964;D1S1423;G59321;G62212;G62213;GDB:217148;L17705;RH11960;RH12551;RH41871;SHGC-144229;SHGC-79772;WI-20714 DKFZp686F0937;FLJ36270;FLJ45632;TEM3;TEM7 2410003I07Rik;OTTHUMP00000164240;plexin domain-containing protein 1;tumor endothelial marker 3;tumor endothelial marker 7 protein-coding ENSG00000161381 20945 08439 606826 VALIDATED 1350171 PLXNB3 plexin B3 The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q28 153263333 153278483 + 152682905 152697989 + 153029651 153044801 + 1334509;1580863;6480464 10520995 19329067;17033634;16122393;15790807;15218527;15184888;12183458;10574462;8661155;12123608;12421765;20696765;21706053 5365 A8K920;B7Z3H9;F5GWC0;F5GZZ4;H7BZV5;H7C0P4;H7C3L0;Q9ULL4 AB033032;ABBA01045358;AF149019;AK292535;AK295762;AK295849;AK295894;AK296538;AK304705;AK307894;AMYH01023300;AMYH01023301;AY927551;CH471172;NG_013255;NM_001163257;NM_005393;U52111 AAG01376;AAI72435;BAA86520;BAF85224;BAH12182;BAH12202;BAH12215;BAH12382;BAH14241;EAW72815;NP_001156729;NP_005384;Q9ULL4 Hs.632833 1772294;2182202 A004O03;A008P20 FLJ76953;PLEXB3;PLEXR;PLXN6 OTTHUMP00000025973;plexin 6;plexin-B3 APPROVED protein-coding ENSG00000198753 9105 02198 300214 REVIEWED 1342576 PLXNA1 plexin A1 3 3 q21.3 128190192 128238922 + 126707437 126756235 + 1580863;6480464 8570614;10520995;19240061;19176370;18161927;16641997;15187088;14977921;14702039;14500350;12559962;12477932;12093729;11784792;11239433;11230166;11108845;10520994;11604131;16715077;17520388;19480842;21116278;19909241;21139048;21890473;21906983;18029348;22268729 5361 F8VSZ4;Q9UIW2 ABBA01016382;AC011199;AI472001;AK054675;AK055605;AK126101;AK127254;AK128612;AK293425;AL136663;AMYH01013452;BC017323;BC032432;BC042904;BQ920360;CH471052;NM_032242;X87832 AAI56130;AAI57021;BAC86440;BAG54700;BAG56931;CAB57274;EAW79349;EAW79350;EAW79351;NP_115618;Q9UIW2 Hs.432329 1686939;2108377;2118921;2119830;2132505;2151023;2153956;2165369 D3S2849E;G16008;PLXNA1_8549;RH12525;RH41820;RH47496;RH80703;STS-H29287 DKFZp761P19121;NOV;NOVP;PLEXIN-A1;PLXN1 OTTHUMP00000215966;plexin 1;plexin-A1;semaphorin receptor NOV protein-coding ENSG00000114554 9099 11868 601055 VALIDATED 1602663 PLXNA4B plexin A4, B 7 q32.3 131458631 131983987 - 6480464 12975309;12477932 91584 A4D1N6;Q9HCM2 AC009365;AC009785;AC026239;AK123428;AL137352;AY358850;BC028744;CH236950;CH471070;NM_181775 AAH28744;AAQ89209;BAC85615;CAB70707;EAL24076;EAW83793;EAW83794;EAW83795;EAW83796;NP_861440 Hs.675491 DKFZp434G0625;DKFZp434G0625PRO34003;FAYV2820;PRO34003 protein-coding 25273 10901 604280 1314300 PLXDC2 plexin domain containing 2 10 10 10 p12.31 19791420 20255195 + 20145378 20609121 + 20105372 20569115 + 6480464 16335952;15574754;15489334;15164054;14702039;12975309;12477932;11559528;16385451;19625618;20379614;17192395;21310492;21903422;21139048;21890473 84898 Q6UX71 ABBA01034509;ABBA01034510;ABBA01034511;ABBA01034512;ABBA01034513;ABBA01034514;ABBA01034515;ABBA01034516;AC067743;AC069549;AF378757;AK027529;AK304591;AL157397;AL353147;AMYH01002164;AY358486;BC012885;CH471072;NM_032812 AAH12885;AAL11994;AAQ88850;BAB55178;BAG65379;EAW86177;EAW86178;EAW86179;NP_116201;Q6UX71 Hs.658134 1655584;1669547;1672913;1689268;1710768;1716683;1726569;1727779;1750827;1751051;1756973;1761411;1762517;1763675;1848814;2136089;2138344;2160701;2167159;2170585;2178177;2220002 A004U34;A009H11;D10S1573;D10S1578;G62666;G63155;PLXDC2__5726;RH121600;RH44752;RH48747;RH70086;RH98430;SGC31071;SHGC-104493;SHGC-104965;SHGC-144141;SHGC-145419;SHGC-146331;SHGC-147356;SHGC-33640;SHGC-84047;WI-15162 FLJ14623;TEM7R 1200007L24Rik;OTTHUMP00000019264;OTTHUMP00000019265;OTTHUMP00000019266;plexin domain-containing protein 2;tumor endothelial marker 7-related protein protein-coding ENSG00000120594 21013 08440 606827 PROVISIONAL 1313288 PLXNA2 plexin A2 This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008] 1 1 q32.2 206262210 206484288 - 208195587 208417665 - 1580863;6480464 12421765;19666519;19367581;18628988;18096369;18065206;17346868;17339520;16932874;16402134;16344560;15818466;15489334;14702039;12975309;12477932;10520995;9455484;8570614;20633049;11604131;18583979;19480842;20379614;20455246;21348951;22912587;12372285;19909241;21925246;22011406;22095611 5362 O75051;Q9HAE7 AB007932;ABBA01048234;ABBA01048235;ABBA01048236;ABBA01048237;AK021813;AK055196;AK094259;AK094367;AK125154;AL356275;AL544219;AL590138;AL606753;AMYH01001691;AMYH01001692;AY358496;BC006193;BC009343;BC032125;BC094835;BC132676;BC136530;CH471100;DA500239;H11743;NM_025179;X87831 AAH06193;AAH09343;AAI32677;AAI36531;AAQ88860;BAA32308;BAB13902;BAB70871;CAB57275;EAW93457;NP_079455;O75051 Hs.497626 1647243;1647875;1651919;1670183;1684070;1767612;1781702;2134430;2148754;2162415;2164918;2219518;5491320 AL009269;AL009394;AL009499;D1S3376;MARC_9713-9714:996688545:1;PLXNA2__5727;RH64525;RH99093;SHGC-155146;SHGC-76282;SHGC-76286;SHGC-76289;WI-11885 FLJ11751;FLJ30634;KIAA0463;OCT;PLXN2 OTTHUMP00000034732;plexin 2;plexin-A2;semaphorin receptor OCT;transmembrane protein OCT APPROVED protein-coding ENSG00000076356 9100 03033 601054 REVIEWED 1321541 PLXNB1 plexin B1 3 3 p21.31 48420267 48441746 - 48445261 48471460 - 1580863;6480464 19483722;15642257;10520995;22378040;19444311;19367581;18417270;18321527;18279812;18275816;18025083;18024597;17916560;17855350;17383649;16335952;16055703;15929008;15632204;15210733;15184888;14702039;12730235;12533544;12477932;12406905;12220504;12198496;12196628;12183458;12123608;11937491;11035813;9455477;8570614;12559962;15297673;22807448;20877282;20610402;16188938;19805522;19843518;19940359;20040080;20164843;21216304;21029396;21059203;19909241;22404908;21812859;21912513;22028792 5364 G8JLJ7;O43157 AB007867;ABBA01024651;AC104448;AJ011414;AJ011415;AK091832;AK092609;AK296776;AMYH01013149;BC066773;BC128094;BC129947;BC146793;CH471055;NM_001130082;NM_002673;X87904 AAI28095;AAI46794;BAA23703;BAG52423;BAG52582;BAG59355;CAB56221;CAB56222;CAB57277;EAW64864;EAW64865;EAW64866;NP_001123554;NP_002664;O43157 Hs.476209 1792498;2151537;2152351 PMC152287P2;SHGC-30574;STS-D29212 KIAA0407;MGC149167;PLEXIN-B1;PLXN5;SEP OTTHUMP00000164806;OTTHUMP00000210032;OTTHUMP00000210033;plexin 5;plexin-B1;semaphorin receptor SEP protein-coding ENSG00000164050 9103 03032 601053 VALIDATED 1316607 PLXNC1 plexin C1 This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] 12 12 q23.3 93066630 93223356 + 94542499 94701451 + 1580863;6480464 9586637;19318806;18987670;18628988;17671519;17081983;12477932;10520995;9110174;8619474;15746246;17910043;19462467;20727575;23518928;19792857;21610070 10154 B4DHQ7;F5H3A2;F8VUW4;F8W095;F8W1K6;O60486 AA609130;AB208934;ABBA01053364;ABBA01053365;AC073655;AC123567;AF030339;AF035307;AK295226;AK304327;AK307920;AK308985;AMYH01004661;BC029934;CH471054;NM_005761;NR_037687 AAC18823;AAI48591;AAI56868;BAD92171;BAG58219;BAH14160;EAW97500;NP_005752;O60486 Hs.584845 1335944;1679848;1708568;1713829;1718923;1746149;1746151;1746603;1773191;2139352;2149020;2160677;2161965 D12S2125;D12S829;G64440;G64441;G64528;RH120803;RH123168;RH45721;RH46103;RH68932;RH91966;SHGC-85070;WI-14237 CD232;PLXN-C1;VESPR OTTHUMP00000243326;plexin (semaphorin receptor);plexin-C1;receptor for viral semaphorin protein;receptor for virally-encoded semaphorin;virus-encoded semaphorin protein receptor APPROVED protein-coding ENSG00000136040 9106 05036 604259 REVIEWED 1353662 PMCHL1 pro-melanin-concentrating hormone-like 1, pseudogene 5 5 p14.3 22178218 22188138 + 22142461 22152381 + 1580863 8188237;11070051;11181993;19068116;8188237;8326825;9729295 5369 Q16048 ABBA01066594;AC139463;AC139497;AF227988;AMYH01014966;AY008407;AY008408;AY008409;AY008410;AY008411;AY028318;EU921424;EU921426;EU921427;EU921428;EU921429;EU921430;EU921435;EU938381;NR_003921;S64288 AAB27494;AAF86356;AAK31288;AAK31289;AAK31291;AAK31292;AAK31293;AAK31294;AAK31295 Hs.247975 1677776;1682646;1683493;1743535;5493105;5493799;5493969 D5F143S1;RH26926;RH70218;RH83560;UniSTS:480574;UniSTS:484292;UniSTS:494878 APPROVED pseudo ENSG00000168967 9110 15940 176793 VALIDATED 1346499 PMCHL2 pro-melanin-concentrating hormone-like 2, pseudogene 5 5 q13 70707368 70717576 + 70671612 70681820 + 1580863 19068116;11181993;11070051;8188237 5370 Q9BQD1 ABBA01012027;AC139463;AC145141;AF238383;AMYH01015400;AY008412;AY008413;AY028320;EU921425;EU921431;EU921433;NR_003922 AAK31290;AAK31296;AAK31297;Q9BQD1 Hs.742169 1677776;1682646;1683493;1743535;5493105;5493799;5493969 D5F143S1;RH26926;RH70218;RH83560;UniSTS:480574;UniSTS:484292;UniSTS:494878 APPROVED pseudo ENSG00000169040 9111 15941 176794 VALIDATED 1321904 PLXND1 plexin D1 3 3 3 q22.1 127700885 127752418 - 130756746 130808272 - 129274056 129325582 - 6480464 18974298;16335952;15489334;15301830;12477932;12421765;12412018;10520995;9734811;15239958;20664171;15550623;17318185;19703316;20385769;21505259;21559368;21795701;21139048;22738647 23129 D6RH25;H0Y9D1;H0YA64;H0YAB2;H0YAM9;Q9Y4D7 AB014520;ABBA01059226;AC023162;AC080007;AK026388;AK299425;AMYH01013476;AMYH01013477;AY116661;BC003526;BC011848;BC030110;BC044228;BC062465;BC150280;BU527983;CH471052;CX761094;NM_015103 AAH03526;AAH11848;AAH44228;AAH62465;AAI50281;AAM49063;BAA31595;BAG61405;EAW79238;EAW79239;EAW79240;NP_055918;Q9Y4D7 Hs.301685 1644438;1728949;2156042;2219520 D10Bir17;D3S3945;PLXND1__5731;SHGC-77334 KIAA0620;MGC75353;PLEXD1 OTTHUMP00000215785;plexin-D1 protein-coding ENSG00000004399 9107 05046 604282 VALIDATED 1602433 PM20D1 peptidase M20 domain containing 1 1 1 1 q32.1 178933498 178955670 - 204063776 204085868 - 205797150 205819276 - 6480464 14702039;12477932;16344560;19915576;23269536 148811 Q6GTS8 ABBA01027402;ABBA01027403;ABBA01027404;AC119673;AK057131;AK290786;AMYH01001675;BC039170;BC063477;BI832659;BM987801;CH471067;DA387977;NM_152491 AAH39170;AAH63477;BAB71368;BAF83475;EAW91584;EAW91585;NP_689704;Q6GTS8 Hs.177744 Cps1;FLJ32569 OTTHUMP00000034235;peptidase M20 domain-containing protein 1;probable carboxypeptidase PM20D1 protein-coding ENSG00000162877 26518 08133 VALIDATED 1317289 PM20D2 peptidase M20 domain containing 2 6 6 6 q15 90273652 90293174 + 89912488 89932003 + 89855769 89875284 + 6480464 14702039;12477932;19322201;21890473;21906983;22505724 135293 Q8IYS1 AA503266;ABBA01040525;ABBA01040526;ABBA01040527;AK094996;AK127529;AK302464;AL353135;AMYH01016499;BC035036;BC045583;BX640865;CH471051;NM_001010853 AAH35036;AAH45583;BAG63754;CAE45925;EAW48559;NP_001010853;Q8IYS1 Hs.356247 1690440;2218976;5109281;5111535 ACY1L2__4250;D1S1425;RH46575;RH78676 ACY1L2;bA63L7.3 OTTHUMP00000016847;aminoacylase 1-like 2;aminoacylase 1-like protein 2;aminoacylase-1-like protein 2;peptidase M20 domain-containing protein 2 protein-coding ENSG00000146281 21408 16473 VALIDATED 731886 PMCH pro-melanin-concentrating hormone The melanin-concentrating hormone (MCH) is a cyclic neuropeptide isolated initially from salmon pituitary gland and later from rat hypothalamus. In mammals, MCH perikarya are confined largely to the lateral hypothalamus and zona incerta area with extensive neuronal projections throughout the brain, including the neurohypophysis. The anatomic distribution suggests a neurotransmitter or neuromodulator role for MCH in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. MCH and 2 other putative neuropeptides, NEI and NGE, are encoded by the same precursor and appear colocalized in nerve cells and in many instances within the projections. The precursor is designated pro-melanin-concentrating hormone (PMCH) (summary by Nahon et al., 1992 [PubMed 1572663]).[supplied by OMIM, Jan 2011] 12 12 q23.2 101114367 101115744 - 102590237 102591614 - 1580863;1624360;1642486;1642484;6480464 15363890;16002548 1572663;8326825;19086053;19068116;18650383;18498421;17640905;17541984;15870910;15546902;12885269;12477932;12220661;12176038;12106685;11839762;11483240;11478907;11122347;10037747;9191099;8770919;8188237;2149166;11416225;11404457;11274220;22295972;19893584;16754659;2834384;20888736;23462990 5367 P20382 ABBA01053230;AC087882;AMYH01004704;AV723033;BC018048;CB047053;CH471054;M57703;NM_002674;S63697 AAA63214;AAB27493;AAH18048;ABM83261;ABM86466;EAW97693;NP_002665;P20382 Hs.707990 1697068;1743535;2169181;2189409;2189507 D12S1939;D5F143S1;G73161;MARC_5061-5062:991939462:1;RH102014 MCH OTTHUMP00000243909;pro-MCH 1643258;1643266;1643270;1643277 BW198_H;BW201_H;BW203_H;BW205_H APPROVED protein-coding ENSG00000183395 9109 01459 176795 VALIDATED 1313554 PLXNB2 plexin B2 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008] 22 22 22 q13.33 34588312 34609097 - 49055535 49086830 - 50713408 50746001 - 1580863;6480464 15184888;18029348;16303743;15489334;15146197;14702039;12533544;12477932;12183458;10591208;10520995;9205841;8593609;7889532;16169070;12123608;12730235;19805522;22939629;21900206;21987572;21139048;21890473;21906983 23654 A6QRG9;A6QRH1;E2PU09;H0Y6J7;H0Y7X5;O15031 AB002313;AB075511;ABBA01011383;ABBA01011384;AK025415;AK025701;AK056543;AK074932;AK123131;AK126394;AL022328;AMYH01012902;BC000221;BC004542;BC110366;BC127770;BC148225;BC148280;BT006887;BX649592;CN388620;CR790389;CT010163;JA738607;NM_012401;S76730 AAB33781;AAH04542;AAI10367;AAI27771;AAI72440;AAP35533;BAA21571;BAE45757;CCF76956;NP_036533;O15031 Hs.3989;Hs.736016 1678821;1739191;1781128;2166049 D22S1091;RH11264;STS-W70072;stdJ402G11A KIAA0315;MM1;Nbla00445;PLEXB2;dJ402G11.3 OTTHUMP00000196636;plexin-B2 APPROVED protein-coding ENSG00000196576 9104 05050 604293 VALIDATED 1347426 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 18 18 q21.32 55718172 55722518 + 57567192 57571538 + 1580863;2314029;2314140;6480464;6907045 19641503;18959742 21454712;15694340;15901672;15705586;19540835;19452318;19372561;19298224;19269851;19164757;19148187;18784742;18708163;18630524;18408751;18398749;18354037;18231856;18192275;17227835;17216584;17038534;16928686;16888645;16782027;15572378;15489334;15299072;15102863;14699081;14500711;12879012;12477932;11181995;10807576;2398525;16169070;15856024;22361683;21153863;20393480;20694148;21145489;21048031;20802529;16697956;17599062;19515722;19815839;20051518;20085765;20156337;20223826;20935673;21353614;17024184;22548841;21698224;21907705;21613222;21113147;21518486;21516346;21900206;21911456;21628457;17289999;20639865;22590594;21139048;21890473;21906983;22216287;22446329;19322201;21139584;22615771;22245094;23014529;23302226;23300762;22430213;23000965;22718761;23341456;23499448;19050264;22053931 5366 Q13794;Q8N589 ABBA01056173;AC107990;AK311943;AMYH01009040;BC013120;BC032663;BF667112;BM999509;CH471096;D90070;NM_021127 AAH13120;AAH32663;ADZ15689;BAA14111;BAG34884;NP_066950;Q13794 Hs.96 1662007;1678709;1687922;2219522;7187430 PMAIP1__5732;RH81004;RH98852;STS-D90070 APR;NOXA OTTHUMP00000163652;PMA-induced protein 1;adult T cell leukemia-derived PMA-responsive;immediate-early-response protein APR;phorbol-12-myristate-13-acetate-induced protein 1;protein Noxa protein-coding ENSG00000141682 9108 12002 604959 VALIDATED 5507928 PMF1-BGLAP PMF1-BGLAP readthrough This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010] 1 q 156182779 156213123 + 12477932;20967262;22505724 100527963 Q6PHR4 ABBA01016665;ABBA01016666;ABBA01016667;ABBA01016668;ABBA01016669;AL135927;AMYH01001436;BC033656;CD049192;CD388852;CH471121;FY213424;NM_001199661;NM_001199662;NM_001199663;NM_001199664 ABM84667;ABM92199;EAW52985;NP_001186590;NP_001186591;NP_001186592;NP_001186593 Hs.530479;Hs.654541 1794720 PMC351321P3 FLJ12287;PMF1 OTTHUMP00000016583;OTTHUMP00000018877;PMF1-BGLAP protein;polyamine-modulated factor 1 protein-coding ENSG00000260238 42953 VALIDATED 1316751 PMEL premelanosome protein This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] 12 12 q13-q14 54634156 54646093 - 56347889 56360496 - 1580863;6480464 22613716;18029348;8179825;19047044;19017974;18563784;18552823;18463683;18337837;18181974;17991747;17625594;17303571;17081065;16760433;16704461;16682408;16516837;15695812;15489334;15096515;15001714;14702039;14632201;12925214;12819038;12732614;12643545;12477932;12135425;11694580;11549113;11266471;10504440;9743519;9586889;9222283;9176405;8739560;8617263;8592076;8022805;7519602;2255914;1924386;1922059;16492709;19666488;19840945;19884326;20231267;16344560;21106765;21148556;21247888;23643172;21949659;22092386;21993558;21993592;22951725 6490 F5H2A6;F8VUB1;F8VXH8;F8VYZ1;F8VZC6;F8VZV2;F8W1D1;H0YIJ2;J3KP45;P40967 ABBA01008395;ABBA01008396;ABBA01008397;AC025162;AK092881;AK130180;AK300150;AMYH01004497;BC001414;BT007202;CA432578;CH471054;DA035117;DA633173;M32295;M77348;NG_028086;NM_001200053;NM_001200054;NM_006928;S73003;U01874;U20093;U31797;U31799;U31807 AAA18479;AAA35930;AAA60121;AAB00386;AAB19181;AAC60634;AAH01414;AAP35866;ABW03637;BAG52619;BAH13223;EAW96852;EAW96853;EAW96854;EAW96855;NP_001186982;NP_001186983;NP_008859;P40967 Hs.95972 1734012;1778245;1789819;2121414;2140056;2157357;2168254;2217252 D12S53E;DGKA_2719;RH45696;SHGC-5310;STS-D29052;STS-N23118;STS-X62535;csnpcdk2-pcr1-1 D12S53E;ME20;ME20-M;ME20M;P1;P100;PMEL17;SI;SIL;SILV;gp100 ME20-M;ME20M;Melanocyte protein mel 17;OTTHUMP00000244022;OTTHUMP00000244023;OTTHUMP00000244024;OTTHUMP00000244025;OTTHUMP00000244026;OTTHUMP00000244028;P1;P100;Pmel 17;Silver, mouse, homolog of;melanocyte protein PMEL;melanocyte protein Pmel 17;melanocytes lineage-specific antigen GP100;melanoma-associated ME20 antigen;melanosomal matrix protein17;silver (mouse homolog)-like;silver homolog;silver locus protein homolog APPROVED protein-coding ENSG00000185664 10880 01117 155550 REVIEWED 1317924 PMEPA1 prostate transmembrane protein, androgen induced 1 This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 20 20 q13.31-q13.33 55656858 55719947 - 56223448 56286592 - 1580863;2315106;2315108;2315107;6480464 14639658;11568975;12907594 10873380;18703514;18174752;16713569;15489334;12670906;12477932;11780052;11042109;21145461;20610632;16341674;23284715;21341270;17318295;21139048;20467438;21963094;23000965;23149075;23251661 56937 A2A2F4;A2A2F5;Q5JY37;Q969W9 ABBA01052931;ABBA01052932;ABBA01052933;AF224278;AF305426;AF305616;AJ308020;AJ308021;AK024618;AK296199;AL035541;AL121913;AL161943;AL732104;AL732105;AMYH01012013;AMYH01012014;AY128643;BC015918;BC025361;BC080635;BM846677;BQ008707;BQ690750;BU196912;CH471077;NG_031951;NM_001255976;NM_020182;NM_199169;NM_199170;NM_199171 AAF86322;AAH15918;AAH80635;AAL09357;AAL16781;AAM89277;BAG58927;EAW75504;EAW75505;EAW75506;EAW75507;EAW75508;NP_001242905;NP_064567;NP_954638;NP_954639;NP_954640;Q969W9 Hs.517155 1682399;2118836;2132772;2132774;2158736;2166884;2191719 A001Z16;G19813;MARC_5563-5564:1031676346:1;RH47916;RH75521;STS-F01898;Z94435 STAG1;TMEPAI OTTHUMP00000031379;OTTHUMP00000031380;OTTHUMP00000174282;OTTHUMP00000174283;OTTHUMP00000174284;OTTHUMP00000174285;solid tumor-associated 1 protein;transmembrane prostate androgen-induced protein APPROVED protein-coding ENSG00000124225 14107 09415 606564 REVIEWED 1345041 PMFBP1 polyamine modulated factor 1 binding protein 1 16 16 16 q22.2 56467111 56520449 - 70710499 70763525 - 72152996 72206349 - 6480464 18029348;16381901;16344560;15489336;14702039;12477932;11468771;11230166;11076863;10493829;22001757 83449 F5GXW3;F5GYR2;F5H0H9;F5H4F8;F5H5J2;F8W771;G3V1Q7;H0YFP6;Q8TBY8 ABBA01016797;ABBA01016798;AC004682;AF239683;AK093285;AK097465;AK122925;AK315004;AL136795;AMYH01007795;BC028423;CH471166;DB019901;DB082449;NM_001160213;NM_031293 AAH28423;AAK15456;ABZ92204;BAC04121;BAG37499;BAG53801;CAB66729;CAL37772;EAW59175;EAW59176;EAW59177;EAW59178;EAW59179;NP_001153685;NP_112583;Q8TBY8 Hs.714939 1337344 D16S3106 DKFZp434G131;FLJ40146 OTTHUMP00000236977;OTTHUMP00000236989;PMF-1 binding protein;PMF-1-binding protein;polyamine-modulated factor 1-binding protein 1 protein-coding ENSG00000118557 17728 10157 VALIDATED 4144671 PMM2P2 phosphomannomutase 2 pseudogene 2 18 18 18 p11.21 12075470 12076201 - 12182196 12182933 - 12192202 12192933 - 646065 ABBA01074011;AMYH01008829;AP005264;NG_022477 pseudo 21753 INFERRED 1347812 PMM2P1 phosphomannomutase 2 pseudogene 1 18 18 p11.22 10626667 10627404 + 10636667 10637398 + 9425221;9425221 390831;5374 ABBA01073980;AMYH01008810;AP001180;NG_022485 pseudo 9116 INFERRED 1317520 PMF1 polyamine-modulated factor 1 1 1 1 q12 129255764 129282815 + 154449408 154476457 + 156182779 156209868 + 1580863;6480464 20404110;15502821;10419538;16585270;19088041;16710414;15489334;14702039;12477932;12020345;11256947;16169070;15371340;17213182;17623298;21890473;21906983;22505724;21963094;21988832;22682992;23000965;23455924 11243 Q6PHR4 ABBA01016665;ABBA01016666;ABBA01016667;ABBA01016668;ABBA01016669;AF141309;AF141310;AK022523;AK124646;AK289490;AK290260;AK307287;AK310694;AL080101;AL135927;AMYH01001436;BC050735;BC056417;BC065031;CH471121;DC310420;DT220098;NM_001199653;NM_001199654;NM_007221 AAD50080;AAD50081;AAH50735;AAH56417;AAH65031;ACE86990;ACE87679;BAC85916;BAF82179;BAF82949;CAH10730;EAW52989;EAW52990;NP_001186582;NP_001186583;NP_009152;Q6P1K2 Hs.530479 1663095;1680962;1770469;1858403;2109677;2127961;2185985 A002Y27;A008U08;D1S1885E;PMF1_9242;RH68629;RH79563;SHGC-64332 Est1p-like protein B (EST1B);OTTHUMP00000016581;OTTHUMP00000016582;OTTHUMP00000016584;polyamine-modulated factor 1 protein-coding ENSG00000160783 9112 11441 609176 VALIDATED 1345145 PML promyelocytic leukemia The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 15 15 q22 72074067 72127213 + 74287014 74340160 + 1580863;6480464;6484113;6907045 21172801;17428679;17419608;17360386;17173041;17172828;17146439;17081985;17081983;17062732;17027752;16935935;16924230;16916642;16912307;16909106;16873257;16873256;16818720;16797070;16778193;16630218;16540467;16501610;16501113;16449642;16432238;16307818;16154611;16113082;19380586;19339552;19224461;19150978;19111660;19100514;19074885;19029980;19023333;19015637;18945770;18856066;18833293;18812519;18809579;18755984;18716620;18689862;18664490;18636556;18625722;18621739;18566754;18511908;18480450;18463162;18246126;18246125;18160400;18158568;18056407;18039859;17996922;17991421;17960172;17943164;17942542;17878236;17822314;17767548;17562868;17543368;17475621;9230084;12915590;17332504;16915281;9448006;9412458;11331580;10910364;18298799;123456;15195100;19487292;11430826;11259576;11175338;11158586;11080164;11025664;10938104;10806494;10684855;10669754;10610177;10597310;10525530;10077561;9819401;9756909;9671405;9583681;9570750;9452416;9420283;9294197;8806687;8394219;8380300;8274203;7935403;7780148;7729428;1720570;1652369;1652368;1594241;1312695;1311253;18708055;11244500;18691969;16007146;15968309;15922731;15855159;15809060;15749021;15746941;15735755;15626733;15601827;15589835;15569683;15467728;15459016;15359634;15356634;15331439;15273249;15194430;15184504;15163746;15136035;15096541;15060166;14992722;14976184;14970276;14970191;14715247;14663483;14645235;14630830;14597990;14597622;14534537;14528266;14526201;14507915;12950020;12935927;12917339;12907596;12837286;12810724;12773567;12759344;12727882;12717420;12691149;12647219;12622724;12610143;12595526;12540841;12506025;12506013;12505266;12477932;12438698;12419228;12402044;12384561;12354770;12234245;12186918;12167712;12142048;12093737;12080044;12060771;12032831;12032336;12006491;11948183;11940591;11907221;11891284;11832207;11704853;11704850;11585900;11500381;11432836;11430827;14702039;10620019;11112690;11160742;15561718;15833741;15940266;17000875;17823119;18408014;18408734;18474224;19217413;20188669;20797634;21145359;21900687;22589541;22875967;22013068;22498738;21623375;20578240;21115099;20544846;19204783;19690564;20639899;20719947;20159609;20159610;17441430;21245861;16412420;16449650;18644863;21205865;21037079;19863682;20881960;20501696;19567472;20211142;20699642;20800603;20574048;20625391;15017387;15231068;15350595;15576338;16873060;17030982;18024792;18029348;19322209;19553342;19597475;19703418;19728758;19808906;19851296;19861416;19865110;20097304;20100838;20123968;20130140;20133705;20155840;20181954;20198315;20228380;20379614;8643677;9395203;9671498;9885291;20826694;16154098;21042751;21092142;21304940;21217775;18212063;21360626;20972455;21057547;21192925;21198351;10882117;14976551;18073335;21310922;21364283;17036045;22990118;23007646;22906876;22915647;20832753;22578841;23135708;10779416;21430051;21489587;21529941;17344210;20389280;21305000;21240990;20075864;21304169;22045732;21161613;21822266;21840486;20133893;21187718;21639834;21613260;21832009;21252943;22155184;20972456;21148299;21752469;21779164;21998700;22022583;21803845;19325566;21934296;21994459;23440206;21139048;21678421;21693764;21890473;21906983;22033920;22117195;11050004;22237204;19471022;21921037;22296450;22406621;11572863;11575918;12150977;15707587;17060459;17081986;19553542;19556897;21044950;21098080;21474068;21704408;22037423;22573317;9427741;14522971;21482821;22493164;17000644;17560333;22982005;22412018;23752268;23064710;23219818;23220564;21963094;21988832;23000965;23092969;22918509;22947142;23049088;23530056;23543742;23604351;19164952;19177012;19750561;22505724;22773875;22886304;22945642;23028697;23430110;22711534;23221561 5371 H3BRN3;H3BT29;H3BT57;H3BUJ5;H3BVD2;Q9BZY0 AB208950;AB209051;AB209411;ABBA01038703;ABBA01038704;AC013486;AC108137;AF230401;AF230402;AF230403;AF230404;AF230405;AF230406;AF230407;AF230408;AF230409;AF230410;AF230411;AF370432;AK026871;AK096663;AK300256;AMYH01006780;BC000080;BC020994;BC034251;BC139795;BF510860;BT009911;BX647287;CH471082;M73778;M79462;M79463;M79464;M80185;NG_029036;NM_002675;NM_033238;NM_033239;NM_033240;NM_033244;NM_033246;NM_033247;NM_033249;NM_033250;S50913;S51489;S68527;X63131;X64800 AAA60125;AAA60351;AAA60352;AAA60388;AAA60390;AAB19601;AAB29490;AAD13865;AAG50180;AAG50181;AAG50182;AAG50183;AAG50184;AAG50185;AAG50186;AAG50187;AAG50188;AAG50189;AAG50190;AAH00080;AAH20994;AAI39796;AAP88913;AAQ15268;BAD92187;BAD92288;BAD92648;BAG62021;CAA44841;CAA46026;EAW77946;EAW77947;NP_002666;NP_150241;NP_150242;NP_150243;NP_150247;NP_150249;NP_150250;NP_150252;NP_150253;P29590 Hs.526464 1697902;1742945;2109679;2141521;2144794;2153922;2166067;2181801;2184287;5015404;5015619;5016478;5016851;5020946;5022651;5024413;5037552;5094304 A005A21;D11S2921;D11S3114;D15S1281;D15S1326;D8S2279;G54700;GDB:216830;GDB:434012;L17705;L17877;L17971;PML_3408;RH102479;RH44486;RH80031;SGC31521;STS-N93133 MYL;PP8675;RNF71;TRIM19 OTTHUMP00000174946;OTTHUMP00000174961;OTTHUMP00000174962;OTTHUMP00000174963;RING finger protein 71;probable transcription factor PML;promyelocytic leukemia protein;promyelocytic leukemia, inducer of;protein PML;tripartite motif protein TRIM19;tripartite motif-containing protein 19 APPROVED protein-coding ENSG00000140464 9113 00023 102578 REVIEWED 1346392 PMPS Pearson marrow pancreas syndrome 5377 9120 1322064 PMM1 phosphomannomutase 1 Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008] 22 22 q13.2 40302858 40315759 - 41972890 41985871 - 1580863;6480464;6907045 9070917;18927083;18591914;17186415;17054774;16540464;16189514;15489334;15461802;14702039;12789572;12477932;10591208;10085245;9603909;9376685;9271215;9119384;21078624;21139048;21890473;21906983 5372 F8WFD5;Q92871 ABBA01055645;ABBA01055646;AK094811;AK130449;AK289368;AK316580;AL023553;AMYH01012803;BC010855;BC016818;CH471095;CR456544;D87810;NM_002676;U62526;U86070 AAC00023;AAC51117;AAH10855;AAH16818;BAA13460;BAF82057;BAG38168;CAG30430;CAK54575;CAK54874;EAW60443;EAW60444;NP_002667;Q92871 Hs.75835 1660157;1663054;2151334;2165206;2174033 A005T18;RH47292;STS-F10883;STS-U86070;WI-19569 Sec53 OTTHUMP00000198843;PMM 1;PMMH-22;brain glucose-1,6-bisphosphatase;phosphomannomutase 1 APPROVED protein-coding ENSG00000100417 9114 03473 601786 REVIEWED 1319677 PMM2 phosphomannomutase 2 The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] 16 16 p13 8799193 8850684 + 8891670 8943194 + 1599132;1599134;1580863;6480464;6907045;7240710 11058896;10066032 9140401;18203160;17694350;17451957;17307006;17166182;15844218;15489334;15342340;13129599;12905014;12477932;12357336;11935250;11891694;11875054;11701646;11404002;11350185;11058895;10922383;10801058;10737800;10602363;10571956;10527672;9887379;9781039;9497260;9425221;9070917;8889548;7874123;19235233;20638314;20800603;20301289;22939629;21541725;21693764;21890473;21906983;23000965;20301507;22374380;22944692 5373 B7Z419;B7Z6R0;F5H0W0;H3BM92;H3BNY9;H3BPH4;H3BR08;H3BRM0;H3BT06;H3BV34;H3BV55;O15305;Q59F02 AB209659;ABBA01019730;ABBA01019731;ABBA01019732;AC012173;AF157796;AK291537;AK296630;AK299979;AK300785;AK304320;AK311035;AK312532;AMYH01007138;AMYH01007139;BC008310;BF811414;BM973590;CH471112;DC366756;NG_009209;NM_000303;U85773 AAC51368;AAD45895;AAH08310;BAD92896;BAF84226;BAG35431;BAH12405;BAH13187;BAH13346;BAH14158;EAW85200;EAW85201;EAW85202;EAW85203;NP_000294;O15305 Hs.625732 1674859;1854128;2167309;5125243;5491627 MARC_26359-29406:1040140027:1;RH48187;SHGC-60564;SHGC-60763;STS-AA022584 CDG1;CDG1a;CDGS;PMI;PMI1;PMM 2 OTTHUMP00000160109;phosphomannomutase 2;phosphomannose isomerase 1 APPROVED protein-coding ENSG00000140650 9115 03472 212065;601785 REVIEWED 1316684 PMP2 peripheral myelin protein 2 8 8 q21.3-q22.1 82515116 82522274 - 82352561 82359719 - 1580863;6480464 15489334;15252450;12477932;11241848;8288226;7525873;6206203;6183401;6172423;2458918;2453513;1720307;20421974;23535730 5375 E5RH45;P02689 ABBA01004052;AC018616;AK307118;AK311758;AMYH01018830;BC034997;CF455669;CH471068;CR541649;CR541738;D16181;DQ786226;NM_002677;X62167 AAH34997;ABM82432;ABM82433;ABM85623;BAA03726;BAG34701;CAA44096;CAG46450;CAG46538;EAW87090;NP_002668;P02689 Hs.571512 1663652;2176062 D8S1917;STS-X62167 FABP8;M-FABP;MP2;P2 OTTHUMP00000227024;OTTHUMP00000227025;myelin P2 protein protein-coding ENSG00000147588 9117 01366 170715 VALIDATED 69112 PMP22 peripheral myelin protein 22 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 p12 15073821 15109369 - 15133096 15168644 - 1358786;1358560;1580863;1358785;6480464;7240710 9409359;9040744;1556154 21194947;19888301;14709540;1497668;1349106;1303281;1303231;1303229;1303228;1303210;1297450;954484;8275092;19259128;18795802;18698610;18642376;18592125;18438698;18353535;17917930;17620487;17824619;16912585;17707409;16683188;16481890;16463004;16437560;16436605;16326107;16215943;16199442;15955700;15891642;15786462;15755691;15564036;15555916;15489334;15205993;15099592;15099590;15083696;15050444;14581692;12823620;12796555;12578939;12497641;12477932;12439896;12402337;12211648;12207933;12119418;11835375;11545686;11456309;11438991;11140841;10982389;10806367;10737979;10704444;10697408;10663978;10632107;10489052;10330345;10212299;9888385;9748013;9633821;9585367;9544841;9187667;9055797;9040737;9004143;8995589;8988161;8786387;8777804;8655153;8615087;8541860;8510709;8500795;8482547;8422677;8252046;8105684;8012388;7929285;7825607;7762451;7728152;7675244;7518101;1835375;1822787;1721895;1677316;10211478;1552542;1552536;19913121;20628086;20538960;20842290;19290556;19447823;19493167;19705173;19830275;19909487;19930872;20093502;20453308;20301566;20571287;21252112;21666788;21159173;21337347;21670407;21692910;21827951;21518455;22000434;22006697;21429232;22131320;21988832;23243264;22243284;20301384;21590514;19322201;23279344;23291589;23224996;23740413;22180461 5376 A8MU75;J3KQW0;J3KT36;J3QS08;Q01453;Q6FH25 ABBA01055039;ABBA01055040;AC005703;AF059314;AK290640;AK300690;AL833462;AMYH01008130;BC019040;BC091499;BF725606;BG424796;BQ212717;BQ232542;BQ694106;BX464118;CD519144;CH471108;CK818720;CR541931;CR541953;D11428;DB466564;DB504971;DV460945;HY099893;HY119295;L03203;M94048;NG_007949;NM_000304;NM_001281455;NM_001281456;NM_153321;NM_153322;NR_104017;NR_104018;U08049;U08096;X65968 AAA36457;AAA58495;AAH19040;AAH91499;ABM83549;ABM86789;BAA01995;BAF83329;BAG62373;CAA46781;CAG46729;CAG46751;EAW89946;EAW89947;EAW89948;EAW89949;NP_000295;NP_001268384;NP_001268385;NP_696996;NP_696997;Q01453 Hs.372031;Hs.658306 1339796;1723413;1725577;1743455;1743457;1743459;1743461;1743463;1768177;1792550;1796532;1857373;2154811;2155376;2181728;5119941 D17S2006;D17S918;G10646;G62085;GDB:189307;GDB:335795;GDB:335798;GDB:335801;GDB:335804;GDB:335807;PMC153757P2;PMP22_384;RH118519;SHGC-11715;STS-D11428;WI-18423 CMT1A;CMT1E;DSS;GAS-3;HMSNIA;HNPP;MGC20769;Sp110 OTTHUMP00000064922;OTTHUMP00000064923;OTTHUMP00000064924;PMP-22;growth arrest-specific 3;growth arrest-specific protein 3;peripheral myelin protein 22 APPROVED protein-coding ENSG00000109099 9118 03059 118220;118300;139393;145900;162500;180800;601097 REVIEWED 1349068 PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008] 2 2 q31.1 190357355 190450600 + 190648811 190742355 + 1599137;1580863;2306716;2306714;2324870;6480464;7240710 8072530;18157157;11900875;15856462 19430479;19237606;19115210;19064572;19012493;18723338;18676680;18484899;18364438;17494052;17148452;16774946;16136382;15226443;12477932;11999575;11809883;11292842;10828585;10480359;10459502;9500994;8889548;8666228;8128251;7980603;12799449;10748159;19170196;19609347;19625176;19692168;20414254;20496165;20004149;20603015;20603073;23608172;21906983;22589738;20301390;23251661 5378 B7ZAA0;C9J4L1;C9JF76;C9JKP0;E9PC40;E9PC65;E9PH88;F8W8L1;P54277;Q3BDU3;Q5FBZ6;Q5FBZ7;Q5XG96 AB006462;AB102869;AB102870;AB102871;AB102872;AB102873;AB102874;AB102875;AB102876;AB102877;ABBA01062380;ABBA01062381;AC008122;AC013468;AK295602;AK297440;AK304634;AK308311;AK316215;AMYH01011344;AY267352;AY540750;AY540751;BC008410;BC036376;BC084548;BC096330;BC096331;BC096332;BM553209;BM677668;BM800196;BT006947;CH471058;CR749432;DC347859;NG_008648;NM_000534;NM_001128143;NM_001128144;U13695 AAA63922;AAH84548;AAH96330;AAH96331;AAH96332;AAO89079;AAP35593;ABB04019;ABB04020;BAD89398;BAD89399;BAD89400;BAD89401;BAD89402;BAD89403;BAD89404;BAD89405;BAD89406;BAG58489;BAG59866;BAG65413;BAH14586;CAH18270;EAX10883;EAX10884;EAX10885;NP_000525;NP_001121615;NP_001121616;P54277 Hs.111749 1679722;1744931;1788552;1788554;1788556;1788558;1788560;2114851;2127577;5020948 D2S2027;G35510;G67535;G67579;G67580;G67581;G67582;GDB:581629;RH93649;SGC38239 DKFZp781M0253;FLJ98259;HNPCC3;PMSL1;hPMS1 DNA mismatch repair protein PMS1;OTTHUMP00000163499;OTTHUMP00000205716;OTTHUMP00000205717;OTTHUMP00000205720;OTTHUMP00000205723;OTTHUMP00000205724;OTTHUMP00000205725;PMS1 protein homolog 1;human homolog of yeast mutL;mismatch repair gene PMSL1;rhabdomyosarcoma antigen MU-RMS-40.10B;rhabdomyosarcoma antigen MU-RMS-40.10E 2303086 MAMTS44_H APPROVED protein-coding ENSG00000064933 9121 02597 600258 REVIEWED 1353301 PMS2L7 postmeiotic segregation increased 2-like 7 8586419 5385 9132 1345139 PMS2L8 postmeiotic segregation increased 2-like 8 q22 1580863 8586419 5386 U38964 AAA97458;Q13400 PMSR2 protein-coding 9133 1345112 PMS2LP1 postmeiotic segregation increased 2-like pseudogene 1 8586419 5391 9135 1354429 PMS2LP2 postmeiotic segregation increased 2-like pseudogene 2 8586419 5392 9136 1346872 PMPCA peptidase (mitochondrial processing) alpha 9 9 9 q34.3 109819961 109833058 + 138424937 138438034 + 139305116 139318213 + 1580863;6480464 7788527;10942759;9299349;15489334;15188402;14702039;12477932;11840567;8590280;7836378;11256614;18029348;19615732;20877624;22939629;20186120;21987572;21139048;21890473;21906983;20467438;21963094;23128233;22505724 23203 B4DKL3;Q10713;Q5SXN0;Q5SXN9 ABBA01022708;AK091455;AK129769;AK296617;AK299304;AK307206;AK308104;AL592301;AMYH01021861;BC004342;BC022949;BC033103;BC111399;BC114360;BC132724;BC136599;CH471090;D21064;D50913;NM_015160 AAH04342;AAH22949;AAH33103;AAI11400;AAI14361;AAI32725;AAI36600;BAA04643;BAA09472;BAC85231;BAG59225;BAG61317;EAW88232;NP_055975;Q10713 Hs.495471 1683717;1684748;1690173;2109681;2144947;5015619;5015861;5015879;5020948;5037552;5109281;7185938 D10S16;D11S3114;D1S1425;D8S2279;G35510;GDB:314949;PMPCA_9317;RH25346;RH28528;RH98241;WI-6042 Alpha-MPP;FLJ26258;INPP5E;KIAA0123;MGC104197 OTTHUMP00000022572;P-55;inositol polyphosphate-5-phosphatase, 72 kD;mitochondrial matrix processing protease, alpha subunit;mitochondrial-processing peptidase subunit alpha protein-coding ENSG00000165688 18667 07500 613036 PROVISIONAL 3277560 PMS2LP2 postmeiotic segregation increased 2-like pseudogene 2 7 7 q11.2 72114524 72121743 + 72476588 72483807 + 8586419;9344666;9847074 100101440 AC005488;AC211476;AMYH01017531;NG_006451 PMSR7 pseudo 33515 INFERRED 733027 PMPCB peptidase (mitochondrial processing) beta This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 97745096 97762356 + 102725109 102742369 + 102937873 102955133 + 1298632;1580863;6480464 9653160 15489334;15342556;14702039;12853948;12477932;12186850;11042152;10942759;10545606;9700204;16169070;20877624;19580345;20186120;22939629;21890473;21906983;22354088 9512 B3KM34;E7ERZ4;F8WAZ6;F8WBE1;F8WEA6;F8WEC8;G3V0E4;O75439;Q96CP5 ABBA01057991;AC004668;AF054182;AI261792;AK000994;AK057656;AK090763;AK098616;AK289864;AK297354;AK309928;AL050216;AMYH01017812;BC010398;BC014079;BP311561;BQ021474;CH471070;NM_004279 AAC39915;AAH14079;ABM83839;ABM87161;BAF82553;BAG50846;BAG51947;BAG59802;CAB43319;EAW83325;EAW83326;EAW83327;EAW83328;NP_004270;O75439 Hs.184211 1690802;1700688;1770441;2151274;2169517;5107155 G67883;RH103967;RH71304;RH79996;SHGC-54619;WI-14926 Beta-MPP;MPP11;MPPB;MPPP52;P-52 OTTHUMP00000211704;OTTHUMP00000211708;mitochondrial processing peptidase beta;mitochondrial processing peptidase beta subunit;mitochondrial-processing peptidase subunit beta APPROVED protein-coding 9119 07539 603131 REVIEWED 1342554 PMS2P10 postmeiotic segregation increased 2 pseudogene 10 7 q11.23 74925017 74928923 - 8586419;8586419;9847074 100288713 AC004878;AMYH01017531;NG_023454 PMS2L10;PMSR4 APPROVED pseudo 9124 INFERRED 1351398 PMS2P12 postmeiotic segregation increased 2 pseudogene 12 7 7 7 q22.1 96989576 96991377 + 101756664 101774224 + 101977726 101979560 + 12690205;9799793 392713 ABBA01011292;AC005088;AC091390;AF030453;AMYH01017767;NG_009900 2114949 SHGC-30972 PMS2L12;PMSL12 APPROVED pseudo 13641 INFERRED 2291758 PMS2CL PMS2 C-terminal like pseudogene 7 7 p22.1 6741461 6757757 + 6774936 6791232 + 17253626;15256438;12477932 441194 Q68D20 AB116525;ABBA01056505;ABBA01056506;ABBA01056507;AC073343;AMYH01017045;BC041364;CR749616;NR_002217 BAC81643;CAH18410;Q68D20 Hs.715590 1772883;1788120;1788122;1788124;1788126;1846702;2165689;7186607;7187506 D7S2083E;G67273;G67274;G67275;G67276;PMS2;SHGC-55948 PMS2P13 pseudo ENSG00000187953 30061 PROVISIONAL 1354080 PMS2L11 postmeiotic segregation increased 2-like 11 pseudogene 7 7 7 q11.23 70004905 70011909 - 76421113 76473110 + 76610139 76653078 + 1580863;6480464 15342556;12477932;9344666;8586419;7980603;20935630 441263 Q13670 AC007000;AC114737;BC015750;BP230837;NG_026599;NR_023383;U38980 AAA97460 Hs.675888 PMSR6 postmeiotic segregation increased 2-like 11 pseudo 9125 VALIDATED 3277649 PMS2P6 postmeiotic segregation increased 2 pseudogene 6 7 7 q11.23 74790975 74794884 - 74953039 74956948 - 10101297;9847074 729453 AB017005;AC004878;AC211486;AMYH01017552;NG_006449 BAA74754 Hs.661055 PMS2L14 APPROVED pseudo 33514 INFERRED 3322123 PMS2P8 postmeiotic segregation increased 2 pseudogene 8 7 7 q11.23 72145875 72149806 + 72507939 72511870 + 9847074;10101297 729299 AB017007;AC005488;AC006995;NG_006447 BAA74756 Hs.661055 PMS2L16 APPROVED pseudo 33516 INFERRED 1603323 PMS2L2 postmeiotic segregation increased 2-like 2 pseudogene 7 7 q11.23 76477545 76493078 + 74973237 74988306 - 6480464 10101297;12477932;8586419;7980603;9847074;16344560 5380 O95744;O95745 AA282042;AA418026;AB017006;AC004980;AC006014;AC006972;AC007000;AC007003;AC211486;AMYH01017552;DA215155;DA735387;NR_003614 BAA74755 Hs.292996;Hs.661055 1673530;1683349;1689225;1693166;1703532;1704360;1715683;1719459;1724875;1753859;1786494;1786512;1790429;1855941;2114756;2115628;2116021;2148996;2156163;2157980;2161244;2163092;2167953;2175463;2175722 AF021119;AL034312;D7S1622;D7S2023;D7S2308;D7S2322;D7S2875;D7S3287;G04628;G09789;GDB:1317498;GDB:1317850;GDB:1318645;RH119202;RH119288;RH123448;RH40786;RH80735;SHGC-108038;SHGC-78171;SHGC-81308;SHGC-82722;SHGC-85508;STS-U10099;ZP3A PMS4 pseudo 9127 17865 VALIDATED 1313536 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008] 7 7 p22.2 5979396 6015263 - 6012870 6048737 - 1599141;1599142;1599137;1580863;2315025;2306716;2315028;2293505;2315026;2306714;6480464;6907045;7240710 10763829;16472587;8072530;19692168;18157157;18723338;17394628;19124481;11900875 10871409;16403449;11793469;11809883;19526325;19244167;19237606;19155293;19132747;19115210;19064572;18841495;18824584;18768816;18676680;18619468;18602922;18376293;18364438;18307725;18273873;18270339;18206974;18178629;18030674;17851451;17653898;17581638;17557300;17493242;17417778;17312306;17148452;17044039;17029773;17016615;16964243;16885385;16774946;16740762;16507833;16344560;16166421;16116158;16042583;15887099;15342556;15256438;15226443;15077197;14871975;14756672;22939629;14676842;12853948;12799449;12684669;12601175;12477932;11948175;11897781;11429708;11427529;11292842;10954713;10783165;10480359;10072354;10037723;9419979;9000555;8889548;8666379;8586419;7661930;12584560;10748159;21425258;20698049;20178594;20029092;12810663;19015241;19170196;19479271;19515846;19536092;19625176;19672700;19703417;19707776;19730683;19863800;19898223;20056646;20129926;20186689;20379614;20403997;20453000;20496165;20533529;20632815;21247423;20603015;20603073;20978114;21348638;21559014;21911971;21376568;21261604;15225546;21139048;21890473;21204794;22461402;20301390;22145025;21571466;23012243;20706999;23000965;23434150;22585707;23042605 5395 C9J167;P54278 AB103082;AB103083;AB103085;AB103086;ABBA01029370;ABBA01029371;ABBA01029372;ABBA01029373;AC005995;AI433648;AK294661;AK312390;AMYH01017027;AMYH01017028;AMYH01017029;BC008400;BC031832;BC093921;BC143397;BM669686;BP251389;BQ050630;BX537558;CH878731;CR981250;DA774159;DB527312;NG_008466;NM_000535;NR_003085;U13696;U14658 AAA50390;AAA63923;AAH93921;AAS00390;BAD89425;BAD89426;BAD89428;BAD89429;BAG35307;BAG57831;CAD97782;EAW55055;NP_000526;P54278 Hs.632637 1772883;1788120;1788122;1788124;1788126;1788128;1788130;1846702;1847957;2114949;2165689;5109281;7186607;7187506 D1S1425;D7S2083E;G67272;G67273;G67274;G67275;G67276;G67277;PMS2;SHGC-30972;SHGC-31701;SHGC-55948 HNPCC4;PMS2CL;PMSL2 DNA mismatch repair protein PMS2;H_DJ0042M02.9;OTTHUMP00000115837;OTTHUMP00000201307;OTTHUMP00000201308;PMS1 protein homolog 2;mismatch repair endonuclease PMS2 APPROVED protein-coding ENSG00000122512 9122 02598 276300;600259;614337 REVIEWED 1606835 PMS2P3 postmeiotic segregation increased 2 pseudogene 3 7 7 7 q11.23 70004871 70025253 - 74975005 74995330 - 75137069 75157453 - 6480464 12477932;10737800;8586419;7980603;20819778 5387 Q13401;Q16603 ABBA01005872;ABBA01005873;AC018720;AC211429;AMYH01017552;BC007683;BC014421;BC046153;BC087844;BC101598;BC143635;BE938866;CH471220;D38437;D38498;NR_028059;U38979;XR_172481 AAA97459;AAI01599;BAA07472;BAA07510;EAW71765;EAW71766;Q13401 Hs.659871;Hs.661055 MGC126647;PMS2L3;PMS2L9;PMS5;PMSR3 APPROVED pseudo ENSG00000127957 9128 17866 VALIDATED 1354240 PMS2P5 postmeiotic segregation increased 2 pseudogene 5 7 7 7 q11.23 71059446 71060147 + 73944837 73959790 + 74306894 74336166 + 1580863;6480464 12477932;10737800;8586419;7980603 5383 A8MQ11;Q7Z7L0 AA621085;AC004166;AC211424;AK309660;AMYH01017552;BC027480;BC052588;BF848566;BF984173;BX116204;D38436;D38439;D38501;D38502;DW407867;NR_027775;NR_027776;NR_027777 A8MQ11;AAH52588;AAI52851;BAA07471;BAA07474;BAA07513;BAA07514 Hs.292996;Hs.647025 1676138;5113775;5127400 RH46934;RH71228;RH79612 MGC34222;PMS2L5;PMS7 APPROVED pseudo ENSG00000123965 9130 17867 VALIDATED 1352973 PMS2P1 postmeiotic segregation increased 2 pseudogene 1 7 7 7 q22.1 94648034 94663700 - 99756199 99771866 - 99918263 99933930 - 1580863;6480464 10101297;16344560;15077197;12690205;12477932;8586419;7980603;22939629;22990118 5379 A4D2B8;Q16590 AACC02000084;AB017004;ABBA01013219;AC005071;AMYH01017733;BC038996;BC044214;BC067809;BC110395;CH236956;CH471091;D38435;D38499;DA706474;NR_003613;U38964 A4D2B8;AAA97458;BAA07470;BAA07511;BAA74753;EAL23838;EAL23839;EAL23840;EAL23842;EAW76559 Hs.634244;Hs.661055;Hs.703626 1676138;5095925;5097033;5113775;5127400 GDB:4584991;RH119103;RH46934;RH71228;RH79612 PMS2L1;PMS2L13;PMS2L6;PMS2L7;PMS2L8;PMS3;PMS8;PMSR1;PMSR2 APPROVED pseudo 9123 605038 PROVISIONAL 1349996 PMS2P4 postmeiotic segregation increased 2 pseudogene 4 7 7 q11.22 66388663 66405454 - 66741118 66767429 - 1580863;6480464 16913423;12477932;8586419;7980603;16344560;16712791 5382 Q16544 ABBA01048937;ABBA01048938;ABBA01048939;AC006480;AMYH01017500;BC029368;BC029419;BC038841;CB141754;D38438;D38500;DA885243;NR_022007;NR_046297;NR_046299 BAA07473;BAA07512 Hs.712714 2114949;2155963 RH36140;SHGC-30972 PMS2L4;PMS6 APPROVED pseudo ENSG00000067601 9129 VALIDATED 1321931 PMVK phosphomevalonate kinase This gene encodes a peroxisomal enzyme that catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate, the fifth reaction of the cholesterol biosynthetic pathway. Studies in rat show that the message level and the enzyme activity of this protein is regulated by sterol, and that this regulation is coordinated with 3-hydroxy-3-methylglutaryl coenzyme A reductase, the rate-limiting enzyme of cholesterol biosynthesis. [provided by RefSeq, Sep 2011] 1 1 q22 153163832 153176108 - 154897208 154909484 - 1580863;2316857;6480464;6907045 16876788 22544366;10191291;17353931;18798562;18660489;18618710;17902708;15489334;14729858;12477932;8663599;8188698;19913121;20628086;14680974;22939629;16519518;21139048;21890473;21906983;17180682 10654 Q15126;Q6FGV9 ABBA01016725;ABBA01016726;AF026069;AK130234;AK312803;AL451085;AMYH01001420;BC006089;BC007694;BF221848;BQ061044;BT019976;CH471121;CR541998;L77213;NM_006556 AAC37593;AAC60791;AAH06089;AAH07694;AAV38779;ADZ15843;BAG35661;CAG46795;EAW53177;EAW53178;NP_006547;Q15126 Hs.30954 1846692 WI-14846 HUMPMKI;PMK;PMKA;PMKASE OTTHUMP00000035546;hPMK;phosphomevalonate kinase APPROVED protein-coding ENSG00000163344 9141 07404 607622 VALIDATED 7241953 PNLIPP1 pancreatic lipase pseudogene 1 100419068 ABBA01062955;AL731653;AMYH01003095;NG_025542 1717175 RH121510 pseudo 45264 INFERRED 1605290 PNCK pregnancy up-regulated non-ubiquitously expressed CaM kinase PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008] X X X q28 153168872 153173500 - 152588417 152592974 - 152935188 152939816 - 6480464 18562482;15489334;12477932;11034105;10673339;8889548;18029348;21325639 139728 C9J2B9;C9J8P0;C9JB09;C9JEC5;C9JJ18;F8WAQ5;F8WBU7;H7BZQ5;Q6P2M8 ABBA01045371;AK296067;AK296165;AK296203;AK303746;AK309148;AK309159;AK316402;AMYH01023296;AMYH01023297;BC033746;BC064422;CF890832;CH471172;DC383841;NM_001039582;NM_001135740;U52111 AAH64422;ABM82972;ABM86166;BAG58826;BAG58903;BAG58930;BAG64718;BAH14773;EAW72834;EAW72835;EAW72836;EAW72837;EAW72838;EAW72839;EAW72840;EAW72841;EAW72842;EAW72843;EAW72844;EAW72845;NP_001034671;NP_001129212;Q6P2M8 Hs.436667 1676854 D11S970 BSTK3;CaMK1b;FLJ50403;FLJ50549;FLJ56451;FLJ59811;MGC45419 OTTHUMP00000025963;OTTHUMP00000025964;OTTHUMP00000025966;OTTHUMP00000025967;OTTHUMP00000025968;OTTHUMP00000025971;OTTHUMP00000206947;caM kinase I beta;caM kinase IB;caM-KI beta;caMKI-beta;calcium/calmodulin-dependent protein kinase type 1B;pregnancy up-regulated non-ubiquitously-expressed CaM kinase;pregnancy upregulated non-ubiquitously expressed CaM kinase APPROVED protein-coding ENSG00000130822 13415 300680 VALIDATED 1316570 PNISR PNN-interacting serine/arginine-rich protein 6 6 6 q16.3 100491988 100517359 - 99954561 99979928 - 99847840 99873207 - 6480464 17081983;16344560;15489334;15302935;14702039;14578391;14574404;12477932;20936779 25957 Q8TEZ9;Q9P0C0 ABBA01014481;ABBA01014482;ABBA01014483;AF161379;AF161424;AF314184;AF314185;AF314186;AJ420559;AJ420570;AK027658;AK027759;AK027898;AK074628;AK291155;AL080186;AL513550;AMYH01016537;BC007791;BC012780;BC019074;BC024655;BC042850;BC052638;BC064413;BC064640;BC107700;BX648520;CH471051;DA208838;NM_015491;NM_032870 AAF28939;AAF28984;AAH07791;AAH12780;AAH19074;AAH42850;AAH52638;AAH64413;AAH64640;AAI07701;AAI72321;AAL76163;AAL76164;AAL76165;BAB55273;BAB55350;BAB55440;BAC11098;BAF83844;CAB45767;EAW48475;EAW48476;EAW48477;EAW48478;EAW48479;EAW48480;EAW48481;NP_056306;NP_116259;Q8TF01 Hs.520287;Hs.644863 1661225;1664658;1754103;1797096;2132762;2140604 D6S2112;DKFZp564B0769;RH46368;RH46722;RH46784;SHGC-132137 C6orf111;DKFZp564B0769;FLJ14752;FLJ14853;FLJ14992;FLJ90147;HSPC306;MGC104269;RP11-98I9.2;SFRS18;SRrp130;bA98I9.2 OTTHUMP00000016890;OTTHUMP00000016891;SR rich protein;SR-related protein;SR-rich protein;arginine/serine-rich protein PNISR;serine-arginine-rich-splicing regulatory protein 130;serine/arginine-rich-splicing regulatory protein 130;splicing factor, arginine/serine-rich 130;splicing factor, arginine/serine-rich 18 APPROVED protein-coding ENSG00000132424 21222 10787 VALIDATED 1346850 PNKD paroxysmal nonkinesigenic dyskinesia This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 2 2 q35 218843359 218919760 + 219135115 219211516 + 6480464;7240710 18948699;18948272;16972263;16632198;16381901;16189514;15824259;15496728;15496428;15489336;15188498;15188056;12975309;12477932;11256614;11076863;10574461;9490305;8659518;8659517;8288249;20620873;18029348;19124534;20237496;20877624;20301400;21487022;22780969;21139048;20360068;21962874;21832049;21963094;22967746;23128233 25953 Q8N490;Q96P23 AB033010;ABBA01023873;ABBA01023874;ABBA01023875;AC021016;AF318057;AF390031;AF417001;AF418285;AK289867;AK309308;AL080092;AL137675;AMYH01011494;AY039043;AY358680;AY358753;BC002937;BC007543;BC021118;BC036457;BI764334;BQ028777;BU553179;CH471063;NG_017060;NM_001077399;NM_015488;NM_022572 AAH02937;AAH21118;AAH36457;AAK83449;AAL08573;AAL08580;AAL25716;AAM73649;AAQ89043;AAQ89113;ACE86504;ACE87185;BAA86498;BAF82556;CAB45707;CAB70870;CAL37953;CAL38046;EAW70602;EAW70603;EAW70604;EAW70605;EAW70606;NP_001070867;NP_056303;NP_072094;Q8N490 Hs.98475 1298289;1298307;1340662;1341444;1676536;1679852;1680465;1708006;1780420;1788206;2109525;2118190;2126374;2154267;2157852;2161317;2179899;7187037 337G113';AI854243;D2S102;D2S120;D2S126;D2S128;D2S173;HSC2KC082;MR-_1_9437;RH12007;RH41829;RH64881;RH68260;RH78114;RH80510;RH98595;SHGC-84670;WI-17411 BRP17;DKFZp564N1362;DYT8;FKSG19;FPD1;KIAA1184;KIPP1184;MGC31943;MR-1;MR1;PDC;PKND1;TAHCCP2 OTTHUMP00000164142;OTTHUMP00000164143;OTTHUMP00000207315;OTTHUMP00000207316;brain protein 17;myofibrillogenesis regulator 1;probable hydrolase PNKD;trans-activated by hepatitis C virus core protein 2 APPROVED protein-coding ENSG00000127838 9153 11369 118800;609023 REVIEWED 1318591 PNLDC1 poly(A)-specific ribonuclease (PARN)-like domain containing 1 6 6 6 q25.3 160867378 160887807 + 160141291 160161725 + 160221301 160241735 + 1580863;6480464 14702039;12477932;8889548;19724895;19851296;20198315 154197 Q8NA58 ABBA01021059;ABBA01021060;AK093139;AK097559;AL139045;AMYH01016804;AMYH01016805;BC112246;BM666663;CH471051;NM_001271862;NM_173516 AAI12247;ADR83213;BAC04070;BAC05101;EAW47612;EAW47613;NP_001258791;NP_775787;Q8NA58 Hs.349077 FLJ40240;MGC138451;dJ195P10.2 OTTHUMP00000017533;OTTHUMP00000183474;poly(A)-specific ribonuclease PARN-like domain-containing protein 1 protein-coding ENSG00000146453 21185 17868 VALIDATED 734222 PNLIP pancreatic lipase This gene is a member of the lipase gene family. It encodes a carboxyl esterase that hydrolyzes insoluble, emulsified triglycerides, and is essential for the efficient digestion of dietary fats. This gene is expressed specifically in the pancreas. [provided by RefSeq, Jul 2008] 10 10 q26.1 118295418 118317357 + 118305428 118327367 + 1300048;1580863;1358859;6480464;6484679 15883013;21718801 1783385;19346257;19113953;18353248;17269661;16431912;16179352;15489334;15316225;14580194;12667003;12477932;12369922;11393534;11278590;9631512;9240923;8479519;8406023;8029213;7601150;2479644;2106079;1522902;1379598;16385451;20136147;20150178;22393262;10769148;15583024;20936779 5406 P16233 A24059;ABBA01062956;AH003527;AK313941;AL731653;AMYH01003095;BC007025;BC014309;CH471066;J05125;L24529;M93285;NG_023311;NM_000936 AAA36740;AAA60129;AAA99053;AAH14309;ADZ15379;BAG36659;CAA01714;EAW49451;NP_000927;P16233 Hs.501135 1708324;1787896 SHGC-173626;SHGC-79423 PL;PNLIPD;PTL OTTHUMP00000020564;pancreatic triacylglycerol lipase;triacylglycerol acylhydrolase APPROVED protein-coding ENSG00000175535 9155 02005 246600;614338 REVIEWED 1344743 PNKP polynucleotide kinase 3'-phosphatase This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010] 19 19 q13.3-q13.4 55056273 55062630 - 50364460 50370822 - 1332584;1580863;6480464;7240710 10446192 10446193;17353931;18029348;19155274;18414202;17650498;17638872;17081983;16364363;16189514;15635413;15489334;15385968;15231748;15057824;14556639;12477932;12032095;11163244;15260972;15066279;23224214;23455924;20574454;20118933;20226869;20522537;20852255;21832049;22939629;15367657;22992732;21353781;21824916;22171004;21139048;22130663;22242598;21988832;22174317;22508754 11284 M0QX49;M0QYH2;M0QYI1;M0R000;M0R097;M0R3C8;Q96T60 AA640353;ABBA01032908;AC018766;AC118341;AF120499;AF125807;AF126486;AF354258;AMYH01009919;AY133033;BC002519;BC009339;BC013034;BC033822;BU541073;CH471177;NG_027717;NM_007254 AAD47379;AAD50639;AAD51135;AAF44716;AAH02519;AAH33822;AAK57340;AAM82170;ABM81732;ABM84887;EAW52565;EAW52566;EAW52567;NP_009185;Q96T60 Hs.78016 1676053 RH92224 EIEE10;MCSZ;PNK DNA 5'-kinase/3'-phosphatase;Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP);bifunctional polynucleotide phosphatase/kinase;polynucleotide kinase 3-prime-phosphatase;polynucleotide kinase-3'-phosphatase APPROVED protein-coding ENSG00000039650 9154 09284 605610;613402 REVIEWED 1353570 PNLIPRP3 pancreatic lipase-related protein 3 10 10 10 q25.3 111916979 111967023 + 118177370 118227459 + 118187424 118237469 + 6480464 12477932;19640199 119548 Q17RR3 ABBA01062958;ABBA01062959;AC011328;AL833418;AMYH01003095;BC015840;BC065752;BC117224;CH471066;NM_001011709 AAI17225;ADR83014;EAW49452;NP_001011709;Q17RR3 Hs.276724 OTTHUMP00000020563;PL-RP3;pancreatic lipase-related protein 3 protein-coding ENSG00000203837 23492 18542 VALIDATED 732485 PNLIPRP1 pancreatic lipase-related protein 1 10 10 10 q25.3 112079787 112097984 + 118340480 118358676 + 118350490 118368686 + 1300048;1580863;2302990;6480464 11384102 1379598;15489334;12477932;19824014;16385451 5407 E7EX42;E9PJC9;E9PMA6;E9PMX6;E9PR20;E9PRT6;H0YDY1;P54315 ABBA01062955;AC016825;AK130236;AK307063;AMYH01003095;BC005233;BC025784;CH471066;CR749299;CR749524;CR749596;M93283;NM_006229 AAA59532;AAH05233;AAH25784;CAH18154;CAH18337;CAH18394;EAW49449;EAW49450;NP_006220;P54315 Hs.73923 5122383 RH71392 PLRP1 OTTHUMP00000020567;OTTHUMP00000230058;OTTHUMP00000230064;PL-RP1;inactive pancreatic lipase-related protein 1;pancreatic lipase related protein 1;pancreatic lipase-related protein 1 protein-coding ENSG00000187021 9156 05109 604422 PROVISIONAL 1625846 PNMA6B paraneoplastic Ma antigen family member 6B (pseudogene) X X q28 151994652 151996650 - 152341614 152342813 - 11256614;15772651 728513 P0C5W0;P0CW24;P0CW26;P0CZ20 AC151958;AC243374;NG_033733;XM_003403580;XM_003960087 P0C5W0;XP_003403628;XP_003960136 paraneoplastic Ma antigen family member 6B;paraneoplastic antigen like 6B APPROVED pseudo 26681 INFERRED 733600 PNLIPRP2 pancreatic lipase-related protein 2 10 10 10 q25.3 112109764 112134082 + 118370455 118394644 + 118380465 118404654 + 1300048;1580863;6480464;6484679 21718801 1379598;18702514;17401110;16887271;15489334;15342556;15287741;12477932;19548271;16385451;21554982;22939629;21652702;21865348;22359512;7566098 5408 F5H1V6;P54317 AA367174;ABBA01062954;ABBA01062955;AC016825;AK291492;AK307745;AK308508;AK308511;AK308521;AMYH01003095;BC005989;BP325072;BQ786898;BU078199;CH471066;CR456949;FO082044;M93284;NM_005396;NR_103727 AAA59533;AAH05989;ABM84052;ABM87402;BAF84181;CAG33230;EAW49447;EAW49448;NP_005387;P54317 Hs.423598 PLRP2 OTTHUMP00000218565;PL-RP2;galactolipase;pancreatic lipase-related protein 2 protein-coding ENSG00000165862 9157 05110 604423 VALIDATED 5132398 PNMA6D paraneoplastic Ma antigen family member 6D (pseudogene) X q28 152243996 152246070 - 10854409;16214224 100287466 P0CW26;P0CZ20 AC152006;NG_033734;NM_001242319 NP_001229248;P0CZ20 Hs.740244 paraneoplastic antigen like 6D;paraneoplastic antigen-like protein 6A-like;paraneoplastic antigen-like protein 6D APPROVED pseudo ENSG00000257088 41924 INFERRED 1346943 PNMA6A paraneoplastic Ma antigen family member 6A X X X q28 152576057 152577863 + 151991521 151994057 + 152338301 152340107 + 737633;6480464 12477932 16407312;16381901;16344560;16214224;15489336;14702039;11256614;11076863;16169070;14676191 84968 P0C5W0;P0CW24 AC151958;AC243374;AC243428;AMYH01023258;BX423798;BX423799;DA091739;NG_016372;NM_032882 NP_116271;P0CW24 Hs.721963 MA6;MGC15827;PNMA6 OTTHUMP00000025910;paraneoplastic antigen like 6A;paraneoplastic antigen-like protein 6A APPROVED protein-coding 28248 06637 VALIDATED 1347764 PNMA5 paraneoplastic Ma antigen family member 5 This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011] X X X q28 152491524 152496827 - 151908024 151911417 - 152157368 152162671 - 6480464 11572484;12477932;16214224;15342556 114824 C9J4L3;Q96PV4 AA732768;AB067521;ABBA01043670;ABBA01043671;AK295446;AK316104;AMYH01023251;AY121806;BC101111;BC101112;BC101113;BP213790;CH471172;DC329825;DC401753;NG_021341;NM_001103150;NM_001103151;NM_001184924;NM_052926;U82671 AAI01112;AAI01113;AAI01114;AAM82754;BAB67827;BAG58384;BAH14475;EAW72892;NP_001096620;NP_001096621;NP_001171853;NP_443158;Q96PV4 Hs.573567 KIAA1934 OTTHUMP00000025900;OTTHUMP00000025901;paraneoplastic antigen family 5;paraneoplastic antigen like 5;paraneoplastic antigen-like protein 5;tumor antigen BJ-HCC-25 APPROVED protein-coding ENSG00000198883 18743 06678 REVIEWED 1349093 PNMA3 paraneoplastic Ma antigen 3 This gene is a member of the paraneoplastic antigen MA (PNMA) gene family, whose protein products share homology with retroviral Gag proteins. They are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. [provided by RefSeq, Jul 2008] X X X q28 152559961 152564021 + 151975422 151979483 + 152224766 152228827 + 1580863;6480464 16407312;16344560;16214224;15489334;12477932;11558790;14676191 29944 Q9UL41 ABBA01043662;ABBA01043663;AC152006;AC243428;AF083116;AI689415;AK312299;AL136878;AMYH01023251;BC030761;BC105096;BC105098;CH471172;DA237274;DR001205;NG_013256;NM_013364;U82670 AAF05627;AAI05097;AAI05099;BAG35226;CAB66812;EAW72888;EAW72889;EAW72890;NP_037496;Q9UL41 Hs.449627;Hs.744496 2136094;2219524;5493119 PNMA3__5734;STS-N70548;UniSTS:484360 MA3;MA5;MGC132756;MGC132758 OTTHUMP00000196648;paraneoplastic antigen Ma3;paraneoplastic cancer-testis-brain antigen APPROVED protein-coding ENSG00000183837 18742 06677 300675 REVIEWED 1349403 PNMTP1 phenylethanolamine N-methyltransferase pseudogene 1 2279621 5410 9161 737176 PNMA1 paraneoplastic Ma antigen 1 The PNMA1 gene encodes an antineuronal antibody (anti-Ma) present in patients with paraneoplastic neurologic disorders (Dalmau et al., 1999 [PubMed 10050892]). Some paraneoplastic syndromes affecting the nervous system are associated with antibodies that react with neuronal proteins and the causal tumor (onconeuronal antigens) (summarized by Dalmau et al., 1999 [PubMed 10050892]). Several of these antibodies are markers of specific neurologic syndromes associated with distinct types of cancer. The presence of some antibodies is so specific that disorders previously identified by brain biopsy or at autopsy can be diagnosed serologically. The expression of neuronal proteins by the tumor appears to be a crucial step that breaks the immune tolerance for otherwise normal neuronal proteins. The identity of most onconeuronal antigens was established by probing human cDNA expression libraries with serum containing antineuronal antibodies.[supplied by OMIM, May 2010] 14 14 14 q24.3 54214567 54217209 - 73248239 73250881 - 74178486 74181128 - 724595;6480464 10050892 18029348;16214224;15489334;14676191;12477932;16169070;15174051;16713569;16730941;17207965;15201193;16196087;21987572;15604093;21078624;21139048;21890473;21906983;18654987;22053931 9240 Q6IAP2;Q8ND90 ABBA01030747;AC006146;AF320308;AK290980;AL834327;AMYH01005846;BC007712;BC039577;BG700354;BG719761;CH471061;CR457112;NM_006029 AAH39577;AAN05100;ADQ32495;BAF83669;CAD38995;CAG33393;EAW81126;NP_006020;Q8ND90 Hs.194709 2182784;2191071 HSC0RE052;MARC_13971-13972:1010423493:1 MA1 37 kDa neuronal protein;OTTHUMP00000240353;neuron- and testis-specific protein 1;paraneoplastic antigen Ma1;paraneoplastic neuronal antigen MA1 APPROVED protein-coding ENSG00000176903 9158 04926 604010 VALIDATED 1316357 PNMA2 paraneoplastic Ma antigen 2 8 8 8 p21.2 25324618 25333902 - 26418113 26427400 - 26362196 26371483 - 6480464 17353931;16344560;15489334;14702039;12477932;11558790;10362822;10050892;10048485;8889549;17207965;17474147;19596235;16214224;22863883;21209860;14676191;21729305;21890473;22505724 10687 Q5U5Z3;Q9UL42 AA025092;AB020690;ABBA01005572;AC015743;AF037365;AF083114;AF083115;AK055325;AMYH01018593;BC036489;BC047515;BC062301;CH471080;DA779744;NM_007257 AAD02098;AAF05625;AAF05626;AAH36489;AAH47515;AAH62301;ADQ32154;BAA74906;BAG51501;EAW63575;NP_009188;Q9UL42 Hs.591838 1678173;2152307;2170873;5015879;5022578 D1S1423;GDB:314949;RH80943;SHGC-24390;SHGC-36722 KIAA0883;MA2;MM2;RGAG2 40 kDa neuronal protein;OTTHUMP00000225004;onconeuronal antigen MA2;paraneoplastic antigen Ma2;paraneoplastic neuronal antigen MM2;retrotransposon gag domain containing 2 APPROVED protein-coding ENSG00000240694 9159 603970 VALIDATED 5132358 PNMA6C paraneoplastic Ma antigen family member 6C X q28 152240819 152243402 + 12477932;14702039;8889549;11181995 100287428 P0CW26;P0CZ20 AC152006;AK055322;AK289879;AMYH01023251;AMYH01023252;AMYH01023253;AMYH01023254;BC007631;BF508272;CH471172;NM_001170944;T68011 AAH07631;BAB70902;BAF82568;EAW72886;EAW72887;NP_001164415;P0CW26 Hs.533301 2184640 STS-N22466 FLJ30760;FLJ77696;MGC15827 paraneoplastic antigen like 6C;paraneoplastic antigen-like 6A related protein;paraneoplastic antigen-like protein 6A related;paraneoplastic antigen-like protein 6C APPROVED protein-coding ENSG00000235961 41914 VALIDATED 2290513 PNMAL2 paraneoplastic Ma antigen family-like 2 19 19 19 q13.32 43797978 43802699 - 51686288 51691009 - 46994448 46999169 - 6480464 16344560;12477932;10574461 57469 M0R374;Q9ULN7 AB033009;ABBA01040978;AC011484;AK124720;AMYH01009863;BC121810;BC122520;BF970252;BX390603;BX488737;DA015488;NM_020709 AAI21811;AAI22521;AAI66688;BAA86497;BAC85931;NP_065760;Q9ULN7 Hs.7193 1767543;1856416;2120044 SGC31894;STS-AA022541;WI-18552 FLJ42730;KIAA1183 PNMA-like 2;PNMA-like protein 2 APPROVED protein-coding ENSG00000204851 29206 VALIDATED 1605375 PNMAL1 paraneoplastic Ma antigen family-like 1 19 19 19 q13.32 43773279 43778352 - 51661588 51666660 - 46969748 46974820 - 6480464 16381901;16344560;15489336;14702039;12477932;12107411;11076863;11230166;20098747;21832049;16196087;14676191;21890473 55228 M0R388;Q86V59 ABBA01040978;AC011484;AK001643;AK096326;AK290218;AL834344;AMYH01009863;BC026026;BC032508;BC051688;BG708870;BQ637225;BU844519;BX649091;CH471126;DA219062;DA325514;NM_001103149;NM_018215 AAH26026;AAH32508;AAH51688;ACE86867;ACE87555;BAA91804;BAF82907;CAD39010;CAL37492;CAL37641;CAL37938;CAL38109;CAL38249;CAL38458;EAW57421;NP_001096619;NP_060685;Q86V59 Hs.8395 1655486;1655867;1753999 A004P47;D19S1000;SHGC-132046 FLJ10781 OTTHUMP00000241028;PNMA-like 1;PNMA-like protein 1 APPROVED protein-coding ENSG00000182013 25578 08552 VALIDATED 1603138 PNPLA10P patatin-like phospholipase domain containing 10 pseudogene X X X q25 126906867 126908966 + 126345746 126354322 + 126524543 126526642 + 16799181 643773 ABBA01047561;AMYH01022956;NG_028013;Z82209 1702930 sWXD1489 pseudo 32928 INFERRED 732850 PNMT phenylethanolamine N-methyltransferase The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] 17 17 q 35078033 35080254 + 37824507 37826728 + 1358561;1580863;1359087;4139902;4139904;5130164;5130725;5130172;5130171;5129532;5130152;5128821;5130724;6480464;6907045;7240710 11958827;12438084;7914070;19342614;14553966;15494609;17645789;11378842;18987458;20378607;21061149;16396986 19086053;18937842;18715275;18702937;18349382;17544870;17117180;16894395;16645894;16363801;15968085;15893506;15848714;15489334;15010812;12634439;12477932;12438093;11900856;11807261;11140838;9645429;9578504;3945626;3372503;1303174;2835776;19343046;19913121;20628086;19570037;19733262;19952402;20090367;20468064;20204374;17207965;21297633;21866188;21044950;20504532 5409 A8MT87;J3QRI3;P11086 ABBA01031860;AC087491;AMYH01008375;BC037246;BG394800;CH471152;CR541815;CS101344;J03280;J03727;NM_002686;NR_073461;X52730 AAA60130;AAA60131;AAH37246;ACE86778;ACE87464;ADQ32631;CAA36944;CAG46614;CAJ00715;EAW60588;NP_002677;P11086 Hs.1892 1657258;1685788;1741213;2163015;2176786 GDB:178582;RH41770;RH66625;RH71449;RH75065 MGC34570;PENT;PNMTase OTTHUMP00000164271;noradrenaline N-methyltransferase;phenylethanolamine N-methylase;phenylethanolamine N-methyltransferase APPROVED protein-coding ENSG00000141744 9160 07176 145500;171190 REVIEWED 1354502 PNPLA2 patatin-like phospholipase domain containing 2 This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010] 11 11 p15.5 808902 815217 + 818901 825573 + 737633;6480464;7240710 12477932 15364929;22535977;22713505;19390624;19208393;19106247;18952573;18952067;18445677;18445597;18224330;18191271;18072017;17657808;17631826;17609260;17356053;17327373;17187067;17032652;16799181;16752181;16679289;16644682;16239926;15550674;15337759;15231748;9110174;8619474;16169070;19029121;7686673;21680814;19010445;19061969;19401457;19433586;19692632;19695247;20167152;20370797;20832801;21073837;21170305;21613358;21393244;21498783;21129760;20237999;21789191;21828047;21757733;22990388;21544567;21900206;21987572;22183409;21543206;21139048;21890473;21906983;21963094;22832386;23000965;22815850;23297223 57104 Q96AD5 ABBA01015211;ABBA01015212;ABBA01204211;AF055000;AJ278475;AJ278476;AK308435;AL833707;AMYH01003295;AP006621;AY203925;AY894804;BC011958;BC017280;CH471158;HQ651812;JF279442;NG_023394;NM_020376;XM_003403858 AAC09354;AAH11958;AAH17280;AAP34448;AAW81962;ADU85972;AEZ01596;CAC01131;CAC01132;EAX02395;EAX02396;NP_065109;Q96AD5;XP_003403906 Hs.654697 2168680;5093252 A009K14;G32609 1110001C14Rik;ATGL;DESNUTRIN;DKFZp667M109;FP17548;PEDF-R;TTS-2.2;TTS2;iPLA2zeta IPLA2-zeta;OTTHUMP00000164432;TTS2.2;adipose triglyceride lipase;calcium-independent phospholipase A2;desnutrin;patatin-like phospholipase domain containing protein 2;patatin-like phospholipase domain-containing protein 2;patatin-like phospholipase domain-containing protein 2-like;pigment epithelium-derived factor;transport-secretion protein 2;transport-secretion protein 2.2;triglyceride hydrolase APPROVED protein-coding ENSG00000177666 30802 11443 609059;610717 REVIEWED 1315443 PNPLA1 patatin-like phospholipase domain containing 1 The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 6 6 6 p21.31 37765485 37830961 + 36318923 36384350 + 36210945 36276372 + 6480464 19390624;18414634;16799181;14702039;12477932;19029121;22246504 285848 B8XXQ3;Q8N8W4 ABBA01038254;ABBA01038255;ABBA01038256;AK096074;AL512301;AM182887;AMYH01016271;BC103905;BC103906;BC103907;CH471081;FJ457781;NG_032813;NM_001145716;NM_001145717;NM_173676;Z84484;Z84485 AAI03906;AAI03907;AAI03908;ACJ70710;BAC04697;CAJ58679;EAX03883;NP_001139188;NP_001139189;NP_775947;Q8N8W4 Hs.407002 1298131;1719465;5037552;7184437;7185885;7186195 D6S291;D8S2279;RH123451 ARCI10;FLJ38755;MGC119319;MGC119320;MGC119321;dJ50J22.1 OTTHUMP00000016289;OTTHUMP00000180648;OTTHUMP00000180660;patatin-like phospholipase domain-containing protein 1 APPROVED protein-coding ENSG00000180316 21246 17869 612121;615024 REVIEWED 2946883 PNPLA4P1 patatin-like phospholipase domain containing 4 pseudogene 1 Y Y 3198836 3199590 - 16192955 16193341 + 100462832 ABBA01030220;AC018677;NG_024801 APPROVED pseudo 38085 INFERRED 1604334 PNO1 partner of NOB1 homolog (S. cerevisiae) 2 2 2 p14 68234624 68252699 + 68238509 68256595 + 68385005 68403091 + 6480464 15489334;15497447;16169070;15815621;12477932;10931946;8125298;21145461;22863883;22939629;21900206;22178446;21139048 56902 F8WBJ6;Q9NRX1 ABBA01075480;AC017083;AF164799;AF349314;AK223118;AK225641;AK291715;AK313204;AMYH01010413;AMYH01010414;BC008304;BC018152;CH471053;NM_020143 AAF80763;AAH08304;AAH18152;AAK29434;AAY14714;BAD96838;BAF84404;BAG36020;EAW99879;NP_064528;Q9NRX1 Hs.262858 1665213;2171910;5022578 D1S1423;D2S2828;SGC34128 KHRBP1;RRP20 KH-type RNA-binding protein 1;OTTHUMP00000159963;RNA binding protein;RNA-binding protein PNO1 protein-coding ENSG00000115946 32790 14250 PROVISIONAL 1346226 PNPLA4 patatin-like phospholipase domain containing 4 This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010] X X X p22.3 12042080 12071056 - 7826804 7855443 - 7866804 7895780 - 737633;1580863;6480464;6907045 12477932 19390624;19029121;19181555;18029348;16799181;16741517;16341674;15955102;15489334;15364929;7806223;17603008 8228 C9IZF6;P41247 ABBA01029293;ABBA01029294;ABBA01029295;ABBA01029296;AC005296;AK289888;AK304586;AMYH01022060;BC020746;BM850121;CH471074;DB468796;DC421932;NG_016624;NM_001142389;NM_001172672;NM_004650;U03886;U08893 AAA16491;AAA17838;AAH20746;ABM82325;ABM85504;BAF82577;BAG65374;EAW98751;EAW98752;EAW98753;NP_001135861;NP_001166143;NP_004641;P41247 Hs.264 1671007;1675133;1732195;2124202;7184832 DXS1283E;DXS9745;G15963;STS-U03886 DXS1283E;GS2;IPLA2-ETA;iPLA2eta IPLA2 eta;OTTHUMP00000022869;OTTHUMP00000022870;calcium independent phospholipases A2 eta;patatin-like phospholipase domain-containing protein 4 APPROVED protein-coding ENSG00000006757 24887 02112 300102 REVIEWED 733566 PNOC prepronociceptin 8 8 p21 28230568 28256787 + 28174649 28200868 + 1580863;6480464 10101606;10419552;9521323;19058789;18292431;17910740;16344560;16043263;15489334;12950177;12812047;12477932;11501941;11436130;11331401;11214319;11097863;10692489;9168905;8710930;8710928;18240029;19501074;19560501;19573600;19874574;20379614;20100531;18577758;20888736;22706982;21310194;21600132;21547539;21744319;23382691 5368 B7Z749;E7EVP0;Q13519 ABBA01005597;AC021678;AK289633;AMYH01018604;AY011845;AY335948;BC034758;BT019334;CH471080;CR541940;CR541965;DA403369;NM_006228;U48263;X97367;X97370 AAC50651;AAG38294;AAH34758;AAP94601;AAV38141;ABM82222;ABM85406;BAF82322;CAA66039;CAA66040;CAG46738;CAG46763;EAW63526;EAW63527;NP_006219;Q13519 Hs.88218 1337465;1753187;1772509;2113886;2126020;2173292 D8S1809;PNOC;SHGC-110036;STS-U48263;WI-15701;WI-18480 PPNOC OTTHUMP00000128320;nociceptin;nocistatin;prepronociceptin;propronociceptin protein-coding ENSG00000168081 9163 03268 601459 VALIDATED 1313105 PNN pinin, desmosome associated protein 14 14 q21.1 38714138 38722173 + 39644387 39652422 + 6480464;6907045 17353931;8922384;10809736;18029348;18086895;17081983;16964243;16565220;16430868;15735603;15542832;15489334;15358154;15324660;15302935;14729963;21319273;14578391;14517304;12893261;12477932;12077342;12051732;11991638;10931946;10645008;10486276;10095061;9447706;8125298;19913121;20628086;16169070;17643375;16341674;16159877;19454010;23084401;23097096;22990118;22388736;22446626;22586326;19471022;16051665;21139048;21693764;21906983;22178446;17332742;21628590;22505724;22952844;23299472 5411 G3V579;G3V5F0;Q9UQR9 ABBA01061550;AF195139;AK223612;AK292579;AK300164;AK303136;AK304622;AL132639;AMYH01005682;BC062602;BG057344;BM850066;BQ938918;CD687183;CH471078;HC250973;HC311162;NM_002687;U59479;U77718;Y09703 AAB03391;AAB48304;AAG33941;AAH62602;BAD97332;BAF85268;BAG61946;BAG64240;BAG65404;CAA70874;CBJ05784;CBJ21236;EAW65820;NP_002678;Q9H307 Hs.409965 1712088;1748397;1775006;1797162;1853422;1853424;2115123;2148802;2160218;5017500 A005O20;D12Ertd512e;D14S1290;G20375;G54093;OPRM1;PNN;RH160;RH44450;SGC31797 DRS;DRSP;SDK3;memA;pinin 140 kDa nuclear and cell adhesion-related phosphoprotein;DRSP;OTTHUMP00000178906;SR-like protein;desmosome-associated protein;domain-rich serine protein;melanoma metastasis clone A protein;neutrophil protein;nuclear protein SDK3;pinin protein-coding ENSG00000100941 9162 04401 603154 VALIDATED 1601958 PNPLA3 patatin-like phospholipase domain containing 3 The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008] 22 22 q13.31 42650952 42674781 + 44319619 44343448 + 6480464 19029121;22276112;21176169;22543885;22141340;22314430;15364929;19390624;19239840;19224197;18940312;18820647;18728122;16799181;16505250;16150821;15489334;15461802;15181042;12529303;12477932;10591208;21281435;22338072;22719876;19524579;19542081;19596471;19619606;19651814;19729411;19738004;19844213;19946271;20034933;20373368;20546964;23510779;20826584;20852027;20962157;21036152;20585554;20648472;20648474;20684021;20803499;21423719;21254164;21319195;21168155;22841784;22978414;22629460;22724004;23032985;21525193;21145868;21381068;23535911;21488075;21168459;21334404;21665509;21878620;21745286;21898508;21236304;21745282;21745307;21893698;23226254;23042597;22258181;21777557;22140488;22189977;21988832;22792295;22162034;22087248;22105854;21909109;22001757;22530607;23069476;23176674;22719190;22898488;22704398;22884299;22863562;22878467 80339 F8W8E5;Q9NST1 ABBA01014586;ABBA01014587;ABBA01014588;AK025665;AK123806;AK315166;AL023654;AL035398;AL138578;AMYH01012832;BC014449;BC065195;CH471138;CR456476;NG_008631;NM_025225;Z97055 AAH14449;AAH65195;BAG37610;BAG53962;CAB71238;CAG30362;EAW73323;EAW73324;EAW73325;NP_079501;Q9NST1 Hs.654800 5024756 RH80030 ADPN;C22orf20;iPLA(2)epsilon OTTHUMP00000197822;OTTHUMP00000197823;acylglycerol O-acyltransferase;adiponutrin;calcium-independent phospholipase A2-epsilon;iPLA2-epsilon;iPLA2epsilon;patatin-like phospholipase domain-containing protein 3 APPROVED protein-coding ENSG00000100344 18590 12430 609567 REVIEWED 1349909 PNP purine nucleoside phosphorylase This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008] 14 14 q13.1 20007382 20015088 + 20937538 20946165 + 1580863;1600263;6480464;6907045;7240710 3029074 18938130;9305962;6771276;16930574;19001417;16964310;15047506;19191546;18946041;18790691;18281957;18281956;17639373;17221831;16169070;15582582;15571269;15489334;14706628;14702039;13679062;12928150;12914785;12477932;12180982;12068295;11964161;11453975;10884411;9737781;9305964;9305963;9067751;8931706;6087295;2104852;1931007;1923769;1560016;1384322;100152;19172318;19425594;19932753;20108972;20532380;21348499;21448452;16196087;21800051;22863883;22939629;22586326;21963094;22623428;23000965;18781797;21139048;21890473;21906983;22132981;21319273;22578971;22053931;22505724;22797925 4860 G3V2H3;G3V393;G3V5M2;P00491 ABBA01061230;AK098544;AK126154;AK307340;AK307364;AK313490;AL355075;AMYH01005588;AY817667;BC104206;BC104207;BC106074;BM193354;BU622706;CH471078;CR407607;J02672;M13951;M13952;M13953;NG_009631;NM_000270;X00737 AAA36460;AAI04207;AAI04208;AAI06075;AAV68044;BAC05327;BAG36272;CAA25320;CAG28535;EAW66458;EAW66459;NP_000261;P00491 Hs.75514 1661883;1705020;1741597;1769244;2134974;2159492;5017498 GDB:181553;NP;RH18070;RH78901;SHGC-31518;SHGC-78026;humpnu2 FLJ94043;FLJ97288;FLJ97312;MGC117396;MGC125915;MGC125916;NP;PRO1837;PUNP OTTHUMP00000163992;inosine phosphorylase;inosine-guanosine phosphorylase;purine nucleoside phosphorylase;purine-nucleoside:orthophosphate ribosyltransferase APPROVED protein-coding 7892 01247 164050;613179 REVIEWED 6908312 PNPT1P1 polyribonucleotide nucleotidyltransferase 1 pseudogene 1 3 p26.1 4024407 4025979 - 100288506 ABBA01020476;AC023480;AMYH01012948;NG_022194 1703472 SHGC-82583 pseudo 44468 INFERRED 6908290 PNPT1P2 polyribonucleotide nucleotidyltransferase 1 pseudogene 2 7 121483502 121485266 - 100533721 AACC02000001;ABBA01057754;AC006353;AMYH01017898;CH236947;NG_028676 pseudo 44469 INFERRED 1343707 PNPLA5 patatin-like phospholipase domain containing 5 This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] 22 22 22 q13.31 28186079 28198414 - 42606891 42619190 - 44275558 44287893 - 6480464 19390624;17603008;16799181;14702039;12477932;19029121 150379 B1AHL9;Q7Z6Z6 ABBA01014585;AK056648;AK127172;AMYH01012831;BC031820;BC104839;BC104843;BC143696;CH471138;NM_001177675;NM_138814;Z97055 AAH31820;AAI04840;AAI04844;BAC86866;BAG51773;EAW73321;EAW73322;NP_001171146;NP_620169;Q7Z6Z6 Hs.248086 1747541;2111422 D22S1145;G65439 4833426H19Rik;GS2L;dJ388M5;dJ388M5.4 GS2-like protein;OTTHUMP00000028876;OTTHUMP00000197824;patatin-like phospholipase domain-containing protein 5 APPROVED protein-coding ENSG00000100341 24888 17870 611589 REVIEWED 1353397 PNPLA7 patatin-like phospholipase domain containing 7 Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008] 9 9 9 q34.3 110879193 110969453 - 139474226 139564807 - 140354405 140444986 - 6480464;6907045 19029121;18029348;16799181;16344560;14702039;12640454;12477932 375775 E2QRF8;F2Z2D4;Q5T362;Q96N75 ABBA01022774;ABBA01022775;ABBA01022776;ABBA01022777;AK024443;AK055880;AK122590;AK125060;AK126267;AK127249;AK127340;AK297623;AK310060;AL365502;AL832856;AL832944;AMYH01021907;AMYH01021908;AMYH01021909;AMYH01021910;BC025663;BF507598;CH471090;DA121537;DA333130;NM_001098537;NM_152286 AAH25663;AAI67848;BAB15733;BAB71033;BAC56931;BAC86036;BAC86509;BAG54465;BAG54487;BAG59999;CAH56322;CAH56483;EAW88396;EAW88397;EAW88398;NP_001092007;NP_689499;Q6ZV29 Hs.294147 2137659 STS-N29354 C9orf111;FLJ31318;FLJ43070;FLJ44279;NTE-R1;NTEL1;RP11-48C7.2 OTTHUMP00000022702;OTTHUMP00000022703;OTTHUMP00000162663;patatin-like phospholipase domain-containing protein 7 APPROVED protein-coding ENSG00000130653 24768 12933 612122 VALIDATED 1605701 PNPLA6 patatin-like phospholipase domain containing 6 This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 p13.2 7505043 7532652 + 7599038 7626653 + 6480464;6907045;7240710 19029121;19343046;19059269;18313024;17385009;16987144;16799181;16344560;16122834;16010971;15302935;15044461;12640454;12514188;12477932;11927584;10759065;9576844;6836585;4026382;3958422;20382209;20346913;21171093;20380879;20603202;20306302;21139048;21890473;21906983;22903185;22952844 10908 M0QXH7;M0QYF5;M0QYT1;M0QZD1;M0QZK5;M0R2C2;M0R2H4;M0R2K2;Q9UG58 ABBA01010900;AC008878;AC009003;AJ004832;AK293807;AK294021;AK302462;AL050362;AMYH01009406;BC038229;BC050553;BC051768;BQ001677;BQ430066;CH471139;DA096881;DA104284;DA247219;DB068563;NG_013374;NM_001166111;NM_001166112;NM_001166113;NM_001166114;NM_006702 AAH38229;AAH50553;AAH51768;BAG57214;BAG57380;BAH13718;CAA06164;CAB43674;EAW69029;EAW69030;NP_001159583;NP_001159584;NP_001159585;NP_001159586;NP_006693;Q8IY17 Hs.631863 1681955;1685281;2176810 RH11760;RH80512;RH91529 NTE;NTEMND;SPG39;iPLA2delta;sws neuropathy target esterase;patatin-like phospholipase domain-containing protein 6 APPROVED protein-coding ENSG00000032444 16268 04432 603197;612020 REVIEWED 5507979 POC1B-GALNT4 POC1B-GALNT4 readthrough This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010] 12 q 89913189 89920039 - 20967262 100528030 F8VUJ3;F8VZB3;Q8N4A0 ABBA01053417;AC010201;AC025034;AK297677;AMYH01004648;BX647258;NM_001199781;NM_001199782 BAG60038;NP_001186710;NP_001186711 Hs.25130 2108109;2173078;5014051;5021872;5022651;5037552 D11S2921;D8S2278;D8S2279;GALNT4_8847;SHGC-36408;sY3084 DKFZp686D0362;FLJ58458 OTTHUMP00000245832;OTTHUMP00000245833;POC1B-GALNT4 fusion;POC1B-GALNT4 protein protein-coding ENSG00000259075 42957 VALIDATED 1603644 PNPLA8 patatin-like phospholipase domain containing 8 This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. A pseudogene of this gene is located on the X chromosome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 7 7 q31 107899305 107953874 - 108110866 108168605 - 6480464 19029121;10744668;18680539;16799181;16381901;15695510;15489336;14702039;12690205;12477932;11256614;11230166;11076863;10833412;19892409;20379614;17213206;21139048;21906983;22006218;23258543 50640 C9J9W9;C9JAX4;J3KPL1;Q9NZ79 AACC02000004;AB041261;ABBA01057890;AC005058;AF217519;AF263613;AF263947;AK002115;AK024335;AK291755;AL834147;AMYH01017837;AMYH01017838;BC005203;BC032999;BX647865;CH236947;CH471070;NM_001256007;NM_001256008;NM_001256009;NM_001256010;NM_001256011;NM_015723 AAD08847;AAF67630;AAF75269;AAF81246;AAH32999;ABM81874;ABM85037;BAA92090;BAA94997;BAB14890;BAF84444;CAD38859;CAL37541;EAL24384;EAL24385;EAW83432;EAW83433;EAW83434;EAW83435;NP_001242936;NP_001242937;NP_001242938;NP_001242939;NP_001242940;NP_056538;Q9NP80 Hs.617340 2131925;2150924;2157630;5022588 D5S1597E;GDB:1317478;RH48733;STS-N66001 IPLA2(GAMMA);IPLA2-2;IPLA2G;iPLA2gamma OTTHUMP00000206842;OTTHUMP00000206858;OTTHUMP00000206859;OTTHUMP00000206860;OTTHUMP00000206861;OTTHUMP00000206862;PNPLA-gamma;calcium-independent phospholipase A2-gamma;iPLA2 gamma;iPLA2-gamma;intracellular membrane-associated calcium-independent phospholipase A2 gamma;membrane-associated calcium-independent phospholipase A2 gamma;patatin-like phospholipase domain-containing protein 8 APPROVED protein-coding ENSG00000135241 28900 13741 612123 VALIDATED 1354036 PNRC1 proline-rich nuclear receptor coactivator 1 6 6 q15 89847216 89851598 + 89790429 89794879 + 1580863;6480464 7578250;19334528;18703122;18281297;15489334;15122321;14574404;12477932;11574675;10894149;10428808;15604093;17612402;21900206;19322201 10957 Q12796;Q49A59 ABBA01040524;AF279899;AK130046;AK312665;AL353135;AMYH01016498;AY303779;BC018112;BC044919;CH471051;DB494998;NM_006813;U03105 AAA85576;AAH18112;AAH44919;AAK07554;AAP76184;BAG35547;EAW48563;EAW48564;NP_006804;Q12796 Hs.75969 1690816;1767670;1852849;7186137 RH91119;SHGC-31472;STS-U03105 B4-2;PNAS-145;PROL2;PRR2;RP11-63L7.5 OTTHUMP00000016843;proline rich 2 protein;proline-rich nuclear receptor coactivator 1;proline-rich polypeptide 2;proline-rich protein 2;proline-rich protein with nuclear targeting signal;protein B4-2 protein-coding ENSG00000146278 17278 08412 606714 VALIDATED 1350683 POC1B POC1 centriolar protein homolog B (Chlamydomonas) 12 12 12 q21.33 89485188 89591448 - 88337632 88443908 - 89813495 89920039 - 737633;6480464 12477932 17041588;15489334;14702039;18068700;19109428;20008567;20379614;16344560;17207965;18029348;20360068 282809 A0MNP0;B4DIH4;F8VPF1;F8VV91;F8VX21;Q6ZW40;Q8IU52;Q8TC44 AB053266;AB053276;ABBA01053417;ABBA01053418;ABBA01053419;AC010201;AC025034;AK027829;AK074772;AK123106;AK123625;AK295596;AL832918;AMYH01004648;AW149266;BC026080;BU521431;CH471054;CQ783661;CQ783663;DA851891;DC354425;EF011619;NM_001199777;NM_172240;NR_037659;NR_037660 AAH26080;ABK41109;ADQ31801;BAB69057;BAB69430;BAC11198;BAC85666;BAG58486;CAF86799;CAF86800;CAH10775;EAW97425;EAW97426;EAW97427;NP_001186706;NP_758440;Q8TC44 Hs.25130;Hs.604487 1654914;1667565;1672156;1684746;1739233;1746521;1746607;1753473;2108109;2173078;2173204;2177850;2182433;2182790 D12S1071;D12S1373;D12S1429;D12S2100;G64424;G64452;GALNT4_8847;RH17759;RH45433;RH69261;RH94137;SHGC-107392;SHGC-36408;WI-14715 FLJ14923;FLJ41111;PIX1;TUWD12;WDR51B OTTHUMP00000242503;OTTHUMP00000242504;OTTHUMP00000242505;POC1 centriolar protein homolog B;TUWD12;WD repeat domain 51B;WD repeat-containing protein 51B APPROVED protein-coding ENSG00000139323 30836 18301 614784 VALIDATED 1352951 PNPO pyridoxamine 5'-phosphate oxidase The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008] 17 17 q21.32 43373916 43381673 + 46018889 46026674 + 634494;1580863;6480464;6907045;7240710 9601034 18485777;17851041;16344560;15772097;15489334;15182361;14702039;12824491;12477932;8889548;8125298;19759001;10024608;21283685;21832049;22939629;21139048;19322201;22949513 55163 B4E0V0;B4E152;B4E1D7;J3KS77;J3QLF1;J3QQV6;J3QQZ9;Q9NVS9 ABBA01041150;AC018521;AF468030;AK001397;AK223242;AK303536;AK303665;AK303792;AMYH01008451;BC006525;CB853441;CH471109;DA186382;DB228906;NG_008744;NM_018129 AAH06525;AAM76918;BAA91668;BAD96962;BAG64562;BAG64664;BAG64749;EAW94770;EAW94771;NP_060599;Q9NVS9 Hs.631742 1341009;1778674;2128097;5022200;5022578;5037552;7185996 D17S1785;D17S2044;D1S1423;D8S2279;L18426;STS-AA005137 FLJ10535;PDXPO pyridoxal 5'-phosphate synthase;pyridoxamine-phosphate oxidase;pyridoxine 5'-phosphate oxidase;pyridoxine-5'-phosphate oxidase APPROVED protein-coding 30260 04476 603287;610090 REVIEWED 1353956 POC1A POC1 centriolar protein homolog A (Chlamydomonas) POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012] 3 3 3 p21.2 52088573 52168026 - 52084310 52163460 - 52109249 52188706 - 737633;6480464 12477932 15489334;14702039;8889548;18068700;19109428;22939629;18029348;20360068;22840363;22840364 25886 Q8NBT0 ABBA01024514;AC097637;AC115284;AF088072;AK075289;AK315688;AL117629;AMYH01013182;BC007417;BC110877;BC119692;BC119693;CA944751;CH471055;CQ783423;NG_032947;NM_001161580;NM_001161581;NM_015426 AAH07417;AAI10878;AAI19693;AAI19694;BAC11525;BAG38051;CAB56021;CAF86626;EAW65185;EAW65186;NP_001155052;NP_001155053;NP_056241;Q8NBT0 Hs.476306 1683130;1688546;1757659;2183140;2190937 D3S4107;MARC_11811-11812:1029265368:1;RH99127;SHGC-146170;SHGC-2444 DKFZp434C245;MGC131902;PIX2;SOFT;WDR51A OTTHUMP00000212478;OTTHUMP00000212479;OTTHUMP00000212480;POC1 centriolar protein homolog A;WD repeat domain 51A;WD repeat-containing protein 51A APPROVED protein-coding ENSG00000164087 24488 08523 614783;614813 REVIEWED 1351134 PNRC2 proline-rich nuclear receptor coactivator 2 1 1 1 p36.11 22617006 22620657 + 24158917 24162518 + 24286301 24289952 + 1580863;6480464 19150429;16710414;16344560;15489334;14702039;14651967;12477932;11574675;11042152;10894149;15604093;16169070;21900206;21906983;23085078;23251661 55629 J3KS97;Q9NPJ4 ABBA01059894;AF151042;AF374386;AK000319;AK024774;AK311305;AL590609;AMYH01000367;BC001959;BC068475;BC078177;BC085018;CH471134;DA043474;NM_017761 AAF36128;AAH01959;AAH78177;AAH85018;AAK54613;BAA91082;EAW95101;EAW95102;NP_060231;Q9NPJ4 Hs.512636;Hs.644217;Hs.716935;Hs.7862 1663364;1686802;1767228;2155640;2172346;5093208 A009J25;D1S3347;G19841;G32584;RH10644;SHGC-75397 FLJ20312;MGC99541 OTTHUMP00000015770;OTTHUMP00000015771;proline-rich nuclear receptor coactivator 2 protein-coding ENSG00000189266 23158 17871 611882 VALIDATED 1345780 POF1 premature ovarian failure 1 7240710 5421 9172 300623;300624;311360 1317494 PNPT1 polyribonucleotide nucleotidyltransferase 1 The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012] 2 2 p15 55715956 55774463 - 55861198 55921011 - 1580863;6480464;6907045 22210891;22815474;18391951;18083837;18083836;17983748;17804700;16966381;16966379;16505900;16410805;16344560;16055741;15815621;15489334;14702039;14563561;12798676;12721301;12477932;12473748;12419256;20546612;19509288;19580345;19604093;20547861;18029348;20877624;20691904;21151174;16934922;18501193;23084290;23084291;20186120;23221631;21890473;19864255;22586326;22939629 87178 F8WBI3;H7BXF6;H7C3C5;Q8TCS8 ABBA01075272;ABBA01075273;ABBA01075274;ABBA01075275;AC015982;AJ458465;AK307589;AMYH01010364;AMYH01010365;AMYH01010366;AW731791;AY027528;AY290863;BC000862;BC005986;BC009057;BC021170;BC053660;BU943827;CH471053;CR749867;DA998523;DB461021;FB334481;HH765820;NG_033012;NM_033109 AAH00862;AAH05986;AAH53660;AAK13047;AAP44472;AAY24271;CAD30289;CAH18709;CAR80228;CBX83686;EAX00086;EAX00087;NP_149100;Q8TCS8 Hs.388733 1792198;5015861;5015961;5037552;5109281;7185938 D10S16;D15S1477;D1S1425;D8S2279;PMC139196P1 COXPD13;DFNB70;DKFZp762K1914;OLD35;PNPASE;old-35 3'-5' RNA exonuclease OLD35;OTTHUMP00000159687;OTTHUMP00000201237;OTTHUMP00000201815;PNPase 1;PNPase old-35;polynucleotide phosphorylase 1;polynucleotide phosphorylase-like protein;polyribonucleotide nucleotidyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000138035 23166 18493 610316;614932;614934 REVIEWED 1605874 POC5 POC5 centriolar protein 5 5 5 q13.3 70863433 70906720 - 75005779 75049069 - 74970023 75013313 - 6480464 19349582;15489334;15144186;14702039;12477932;20935630;23000965;20360068;21906983 134359 D6RBC1;D6RDG4;D6REA5;D6RIH2;D6RJ06;Q8NA72 ABBA01061946;AC010245;AC025170;AK093098;AK296071;AK311296;AMYH01015411;BC010695;BC050459;BC065750;BC101325;BC101326;BC101327;BC101328;BJ991592;CA441610;CH471084;DB448626;NM_001099271;NM_152408 AAH65750;AAI01326;AAI01327;AAI01328;BAC04054;BAG58829;EAW95767;EAW95768;EAW95769;NP_001092741;NP_689621;Q8NA72 Hs.432726 2174466 SHGC-36931 C5orf37;FLJ35779;MGC120442;MGC120443;MGC120444 OTTHUMP00000222114;OTTHUMP00000222115;OTTHUMP00000222116;OTTHUMP00000222453;POC5 centriolar protein homolog;centrosomal protein POC5;hPOC5;protein of centriole 5;proteome of centriole 5 APPROVED protein-coding ENSG00000152359 26658 08188 VALIDATED 1602677 PODNL1 podocan-like 1 19 19 19 p13.12 13935745 13957830 - 13904167 13910289 - 14042000 14064204 - 6480464 12477932 79883 A8K3W6;B7Z3M0;K7EJ07;K7EMV0;K7EPI2;K7EPR1;K7ER84;K7ERE6;K7ESB1;Q6PEZ8 ABBA01029704;ABBA01029705;ABBA01029706;AC020916;AI219486;AK027100;AK290731;AK296101;AK298489;AMYH01009517;BC052610;BC057786;CH471106;NM_001146254;NM_001146255;NM_024825 AAH57786;ADZ15620;BAB15657;BAF83420;BAH12256;BAH12800;EAW84381;EAW84382;EAW84383;NP_001139726;NP_001139727;NP_079101;Q6PEZ8 Hs.448497 FLJ23447;SLRR5B podocan-like protein 1 protein-coding ENSG00000132000 26275 08027 VALIDATED 1320634 PODN podocan 1 1 1 p32.3 51815859 51839146 + 53300473 53323762 + 53527724 53551174 + 6480464 16710414;15489334;15063725;12975309;12796502;12477932;19913121;20628086 127435 Q7Z5L7 ABBA01074746;AK296649;AK299375;AK300847;AK304599;AK314096;AL122104;AL445183;AMYH01000625;AY313607;AY358294;BC024024;BC028292;BC030608;BQ719232;BX391686;CH471059;DC404421;NM_001199080;NM_001199081;NM_001199082;NM_153703 AAH28292;AAH30608;AAP79898;AAQ88661;ABM82697;ABM85881;BAG36791;BAG59247;BAG61365;BAG62498;BAG65385;EAX06756;EAX06757;EAX06758;NP_001186009;NP_001186010;NP_001186011;NP_714914;Q7Z5L7 Hs.586141;Hs.744361 2143483 SHGC-74848 MGC24995;PCAN;SLRR5A OTTHUMP00000010487;OTTHUMP00000035906;podocan;podocan proteoglycan protein-coding ENSG00000174348 23174 10557 608661 VALIDATED 736843 PODXL podocalyxin-like This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008] 7 7 q32-q33 130835561 130891916 - 131185021 131241376 - 1580863;6480464 9188463;19118161;18818395;18456258;18356574;18313397;17719804;17616675;17311105;17124010;16684343;16434482;15642748;15342556;15289306;15226400;15146197;14702039;12874460;12690205;12504081;12477932;11997330;11457882;10737800;9625756;9339384;8125298;17137615;20599725;20628624;19605546;20395446;18029348;21319273;22700887;21139048;21890473;21906983;21987572;21390327;21616097;23288345;21829192;21383689;21655212;22374871;22262060;22769594;21963094;23526252;22814396 5420 F5GWY5;F5H7A2;G3V0E6;O00592;Q96N83 AACC02000027;ABBA01057558;ABBA01057559;AC008264;AK055816;AK223573;AMYH01017943;BC042466;BC093730;BC112035;BC143318;BG006197;BP355358;BX641124;CH236950;CH471070;CN290641;NM_001018111;NM_005397;U97519 AAB61574;AAH93730;AAI12036;AAI43319;BAB71022;BAD97293;EAL24080;EAW83786;EAW83787;NP_001018121;NP_005388;O00592 Hs.744213 1650622;1662801;1674121;2114178;2120241 D7S1418;GDB:4584972;RH45367;RH78732;STS-H65205 Gp200;MGC138240;PC;PCLP;PCLP-1 GCTM-2 antigen;OTTHUMP00000206939;OTTHUMP00000206940;podocalyxin;podocalyxin-like protein 1 APPROVED protein-coding ENSG00000128567 9171 04025 602632 REVIEWED 1347781 PODXL2 podocalyxin-like 2 This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 2012] 3 3 3 q21.3 125774516 125818509 + 128830729 128874342 + 127348039 127391652 + 1580863;6480464 12477932;10722749;18606703;17081983;15489334;12975309;12889478;21987572;21139048;21906983;14573602;16410385;16720896;18987355;22053931 50512 Q9NZ53 ABBA01020882;ABBA01020883;ABBA01020884;AC023593;AF219137;AL524055;AMYH01013456;AY359096;BC019330;BC052585;CH471052;DB543702;NM_015720 AAF44629;AAH19330;AAH52585;AAQ89454;EAW79337;EAW79338;NP_056535;Q9NZ53 Hs.591290 1853015;2170004 D3S3965;SHGC-77281 EG;PODLX2 OTTHUMP00000216064;endoglycan;podocalyxin-like protein 2 protein-coding ENSG00000114631 17936 15154 REVIEWED 1348314 POFUT1 protein O-fucosyltransferase 1 This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 20 20 20 q11 27552048 27582816 + 30259357 30290128 + 30795696 30826467 + 1580863;2302204;6480464;6907045 17761886 11698403;9023546;11524432;18347015;15653671;15489334;12697902;12477932;12168954;12036964;11780052;9525914;8724849;20379614;21988832;22939629;20000738;21906983;22632162 23509 B4DUV4;Q9H488 ABBA01019279;ABBA01019280;AF375884;AK291033;AK300810;AK303068;AL121897;AL832023;AMYH01011838;BC000582;BC017669;CH471077;D80002;NM_015352;NM_172236 AAH00582;AAL09576;BAA11497;BAF83722;BAG62466;BAG64185;EAW76383;EAW76384;EAW76385;NP_056167;NP_758436;Q9H488 Hs.472409 2109683;5109281 D1S1425;POFUT1_9356 DDD2;FUT12;KIAA0180;MGC2482;O-FUT;O-Fuc-T;O-FucT-1;OFUCT1 GDP-fucose protein O-fucosyltransferase 1;OTTHUMP00000030583;OTTHUMP00000030584;o-fucosyltransferase protein;peptide-O-fucosyltransferase 1 APPROVED protein-coding ENSG00000101346 14988 06319 607491;615327 REVIEWED 1351618 POF1B premature ovarian failure, 1B Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010] X X X q21.2 84771759 84874115 - 84419058 84521404 - 84532395 84634748 - 6480464;7240710 12477932;18029348;16773570;15772651;15489334;15459172;14702039;11299520;8125298;21145461;17123869;9001815;20734064;21182205;21800051;20360068;21940798;21139048 79983 F2Z2D5;Q8WVV4 ABBA01051658;ABBA01051659;ABBA01051660;ABBA01051661;ABBA01051662;ABBA01051663;ABBA01051664;ABBA01051665;ABBA01051666;ABBA01051667;ABBA01051668;AF309774;AI591162;AK025039;AK025080;AK026445;AK225193;AK290360;AK314295;AL117325;AMYH01022660;BC017500;CH471104;NG_016358;NM_024921;Z82216 AAH17500;AAM93270;ABM83153;BAB15055;BAB15061;BAB15485;BAF83049;BAG36950;EAW98560;EAW98561;EAW98562;NP_079197;Q8WVV4 Hs.267038 1747221;1747223;1747225;1747227;1747229;1747231;1747233;1747235;1747237;1747239;1747241;1747243;1747245;1747247;2150156;2175473;2186604;2219528 AL022445;DXS7604;DXS7672;G65225;G65226;G65252;G65255;G65256;G65257;G65259;G65260;G65264;G65265;G65266;G65268;G65271;G65275;POF1B__5741 FLJ22792;POF;POF2B OTTHUMP00000023625;OTTHUMP00000023626;premature ovarian failure protein 1B;protein POF1B APPROVED protein-coding ENSG00000124429 13711 06679 300603;300604 REVIEWED 1319023 POGK pogo transposable element with KRAB domain The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008] 1 1 1 q24.1 139913857 139928842 + 165075348 165090333 + 166808724 166823709 + 6480464 8619474;21832049;10509013;18029348;19064610;16964243;14702039;12477932;10819331;9110174;19536175;20360068;21900206;19322201;22053931 57645 B4DS22;G3V1P0;Q5TIJ2;Q9P215 AB040946;ABBA01047257;ABBA01047258;AF111706;AF131746;AF139898;AK027079;AK056711;AK093951;AK293946;AK299537;AL008639;AMYH01001479;BC016390;BC131624;CH471067;NM_017542 AAD20031;AAD50079;AAI31625;AAM12422;BAA96037;BAG51796;BAG57323;BAG61484;EAW90775;EAW90776;EAW90777;NP_060012;Q9P215 Hs.432752 1680367;1700084;1778855;2219532 D1S1807E;POGK__5743;RH103655;RH64540 BASS2;KIAA1513;KIAA15131;KRBOX2;LST003 KRAB box domain containing 2;OTTHUMP00000032214;OTTHUMP00000032215;OTTHUMP00000032216;pogo transposable element with KRAB domain APPROVED protein-coding 18800 17872 REVIEWED 1316469 POFUT2 protein O-fucosyltransferase 2 Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008] 21 21 21 q22.3 31791392 31815364 - 45508271 45532239 - 46683843 46707811 - 1580863;6480464;6907045 17395589;22588082;16464858;16464857;15489334;15233996;15146197;12966037;12477932;10830953;10231032;20549515;19615732 23275 H7C2T5;Q9Y2G5 AB023175;ABBA01074188;ABBA01074189;ABBA01074190;AJ302079;AJ302080;AJ575591;AK290732;AK294966;AK298080;AL110285;AL163301;AMYH01012307;AMYH01012308;AMYH01012309;AY066015;BC000626;BC011044;BC064623;BI560842;BI669244;BX322557;CA425603;CH471079;CN429387;NM_015227;NM_133635;NR_004858 AAH11044;AAH64623;AAL47681;BAA76802;BAF83421;BAG58039;BAG60368;CAB53715;CAB90496;CAC24556;CAC24557;CAE01472;EAX09350;EAX09351;EAX09352;EAX09353;EAX09354;NP_056042;NP_598368;Q9Y2G5 Hs.592164 1678165;2219530 POFUT2__5742;RH38884 C21orf80;FUT13 GDP-fucose protein O-fucosyltransferase 2;O-FucT-2;OTTHUMP00000107272;OTTHUMP00000107274;OTTHUMP00000107275;OTTHUMP00000196411;peptide-O-fucosyltransferase 2 APPROVED protein-coding ENSG00000186866 14683 09846 610249 VALIDATED 732365 POLA1 polymerase (DNA directed), alpha 1, catalytic subunit This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010] X X p22.1-p21.3 24621977 24925024 + 24712064 25015103 + 1580863;6480464;6907045;7240710 2175912;16762037;3359994;893425;4084590;3139084;1311258;2243771;9395244;9518481;10518787;10869558;16438930;3335506;1508673;1730053;11470886;7910375;9815285;18029348;1903085;6693436;9822671;11473323;7045121;19177015;17761813;17699597;17209555;16935576;15615704;14499601;12950174;12665598;12546699;12393188;12220650;12181327;11968016;11917009;11259605;10877824;9563011;9039979;8760400;8226963;8223465;7504813;7085672;3820307;3490907;2410918;2005899;1848671;15146197;19608746;19615732;3917431;8889548;22939629;22863883;22887995;22586326;22623531;21139048;21890473;19471022;21628590;21705323;22679391;22593576;23390603;22053931;22505724 5422 A6NMQ1;P09884 ABBA01072351;ABBA01072352;ABBA01072353;ABBA01072354;ABBA01072355;ABBA01072356;ABBA01072357;ABBA01072358;ABBA01072359;ABBA01072360;ABBA01072361;ABBA01072362;ABBA01072363;ABBA01072364;ABBA01072365;ABBA01072366;ABBA01072367;ABBA01072368;ABBA01072369;ABBA01072370;ABBA01072371;ABBA01072372;ABBA01072373;ABBA01072374;ABBA01072375;AC002504;AC004655;AC079375;AC135280;AMYH01022165;AMYH01022166;AMYH01022167;AY275833;BM664024;BU508486;BX648513;CH471074;CN364591;DW462890;HB393262;M64481;NG_016798;NM_016937;X06745 AAA52318;AAP13534;CAA29920;CAZ65678;EAW99028;NP_058633;P09884 Hs.567319 1645557;1669618;1689253;1702068;1702120;1711158;1715393;1733420;1777067;1793622;2149958 AFM240zf6;DXS1198;DXS1396;DXS6717;DXS7504;GDB:192498;PMC24149P2;RH11251;RH120529;SHGC-85317;STS-X06745 DKFZp686K1672;POLA;p180 DNA polymerase alpha 1 catalytic subunit;DNA polymerase alpha catalytic subunit;DNA polymerase alpha catalytic subunit p180;DNA polymerase alpha p180 subunit;OTTHUMP00000023089;OTTHUMP00000023090;dna polymerase alpha subunit i;polymerase (DNA directed), alpha 1;polymerase (DNA-directed), alpha (70kD) APPROVED protein-coding ENSG00000101868 9173 02416 310465;312040 REVIEWED 5132189 POLD2P1 polymerase (DNA directed), delta 2, accessory subunit pseudogene 1 5 5 5 q15 88462106 88463452 + 92628743 92630146 + 92603044 92604390 + 16479163;23251661 391811 ABBA01069286;AC008500;AMYH01015482;NG_021890 APPROVED pseudo 41522 INFERRED 1604326 POGLUT1 protein O-glucosyltransferase 1 3 3 3 q13.33 117596459 117622119 + 120670489 120696245 + 119187785 119213555 + 6480464;6907045 12975309;16524674;16303743;15489334;15342556;12477932;8125298;21458412;19822096;20143914;20190752;17207965;22939629;23692084 56983 B4DVA9;F8WDC4;F8WEW4;H7C5H0;Q8NBL1 ABBA01061583;AC073352;AC074271;AF168711;AK027012;AK075444;AK126736;AK222937;AK295984;AK301002;AK315367;AMYH01013419;AY298903;AY358581;BC030614;BC048810;BP347179;CD517010;CH471052;CS051265;NM_152305;NR_024265 AAF87313;AAH30614;AAH48810;AAP56253;AAQ88944;ADQ31708;BAC11625;BAD96657;BAG37760;BAG58759;BAG62621;CAI72128;EAW79570;NP_689518;Q8NBL1 Hs.231750 1340389;1676306;1722231;2140845;2175267 D3S3513;D3S3946;G60021;RH44249;RH48743 C3orf9;CLP46;KDELCL1;KTELC1;MDS010;MDSRP;MGC32995;Rumi;hCLP46 9630046K23Rik;CAP10-like 46 kDa protein;CAP10-like protein, 46 kDa;KDELC family like 1;KTEL (Lys-Tyr-Glu-Leu) containing 1;KTEL motif-containing protein 1;OTTHUMP00000215111;myelodysplastic syndromes relative protein;protein O-glucosyltransferase 1;x 010 protein APPROVED protein-coding ENSG00000163389 22954 17475 VALIDATED 1320615 POGZ pogo transposable element with ZNF domain The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010] 1 1 1 q21.3 124490466 124547192 - 149641824 149698556 - 151375200 151431941 - 1580863;6480464 18654987;21252943;10976766;18029348;17081983;16710414;16381901;15489336;15489334;15302935;12880961;12477932;11230166;11076863;9455484;20936779;19244240;20379614;20562864;19394292;21888893;21832049;22990118;20360068;21139048;21890473;22586326;22094256;23000965 23126 A6PW30;E9PIR8;E9PJY9;F5H8H4;H0YCT3;H7C238;M0R2X2;Q5SZS2 AB007930;AB037911;AB075477;ABBA01049394;ABBA01049395;ABBA01049396;AJ242979;AK000199;AK299791;AK300307;AK302501;AL589764;AMYH01001387;AMYH01001388;AW167360;BC042018;BC057773;BX537561;BX537838;BX649163;CH471121;NM_001194937;NM_001194938;NM_015100;NM_145796;NM_207171 AAH57773;AAI66671;BAA32306;BAB87117;BAE45744;BAG61670;BAG62060;BAG63781;CAB45136;CAD97850;CAL37797;EAW53436;EAW53437;EAW53438;EAW53439;EAW53440;EAW53441;NP_001181866;NP_001181867;NP_055915;NP_665739;NP_997054;Q7Z3K3 Hs.489873 1775624;1799330;1799828;1800526;1801160;1804036;1806660;1807658;1808918;1809108;1812054;1812604;1814386;1815720;1815834;1816586;1816588;1816724;1817254;1817572;1818530;1820092;1821168;1821994;1821996;1822268;1823158;1824462;1827268;1828494;1829338;1830594;1832058;1833456;1834420;1839122;1839482;1840482;1840612;1841644;1841782;1843324;1844266;1845176;1845628;1846276;1926336;1926338;1926340;1926342;1926344;1926346;1926348;1926350;1926352;1926354;1926356;1926358;1926360;1926362;1926364;1926366;1926368;1926370;1926372;1926374;1926376;1926378;1926380;1926382;1926384;1926386;1926388;1926390;1926392;1926394;1926396;1926398;1926400;1926402;1926404;1926406;1926408;1926410;1926412;1926414;1926416;1926418;1926420;1926422;1926424;1926426;1926428;1926430;1926432;1926434;1926436;1926438;1926440;1926442;1926444;1926446;1926448;1926450;1926452;1926454;1926456;1926458;1926460;1926462;1926464;1926466;1926468;1926470;1926472;1926474;1926476;1926478;1926480;1926482;1926484;1926486;1926488;1926490;1926492;1926494;1926496;1926498;1926500;1926502;1926504;1926506;1926508;1926510;1926512;1926514;1926516;1926518;1926520;1926522;1926524;1926526;1926528;1926530;1926532;1926534;1926536;1926538;1926540;1926542;1926544;1926546;1926548;1926550;1926552;1926554;1926556;1926558;1926560;1926562;1926564;1926566;1926568;1926570;1926572;1926574;1926576;1926578;1926580;1926582;1926584;1926586;1926588;1926590;1926592;1926594;1926596;1926598;1926600;1926602;1926604;1926606;1926608;1926610;1926612;1926614;1926616;1926618;1926620;1926622;1926624;1926626;1926628;1926630;1926632;1926634;1926636;1926638;1926640;1926642;1926644;1926646;1926648;1926650;1926652;1926654;1926656;1926658;1926660;1926662;1926664;1926666;1926668;1926670;1926672;1926674;1926676;1926678;1926680;1926682;1926684;1926686;1926688;1926690;1926692;1926694;1926696;1926698;1926700;1926702;1926704;1926706;1926708;1926710;1926712;1926714;1926716;1926718;1926720;1926722;1926724;1926726;1926728;1926730;1926732;1926734;1926736;1926738;1926740;1926742;1926744;1926746;1926748;1926750;1926752;1926754;1926756;1926758;1926760;1926762;1926764;1926766;1926768;1926770;1926772;1926774;1926776;1926778;1926780;1926782;1926784;1926786;1926788;1926790;1926792;1926794;1926796;1926798;1926800;1926802;1926804;1926806;1926808;1926810;1926812;1926814;1926816;1926818;1926820;1926822;1926824;1926826;1926828;2125717;2179613;2207724;2207726;2207728;2207730;2207732;2207734;2207736;2207738;2207740;2207742;2207744;2207746;2207748;2207750;2207752;2207754;2207756;2207758;2207760;2207762;2207764;2207766;2207768;2207770;2207772;2219534;5093596;5119484;5491322 A009S25;D20S1077;ECD00514;ECD00768;ECD01123;ECD01452;ECD02934;ECD04287;ECD04801;ECD05442;ECD05542;ECD07032;ECD07312;ECD08222;ECD08898;ECD08957;ECD09335;ECD09336;ECD09406;ECD09677;ECD09836;ECD10327;ECD11119;ECD11661;ECD12083;ECD12084;ECD12220;ECD12667;ECD13329;ECD14749;ECD15374;ECD15800;ECD16433;ECD17167;ECD17871;ECD18358;ECD20740;ECD20923;ECD21427;ECD21496;ECD22019;ECD22090;ECD22870;ECD23347;ECD23805;ECD24032;ECD24358;G32812;MARC_9783-9784:996688605:1;POGZ__5744;REN33994;REN33995;REN33996;REN33997;REN33998;REN33999;REN34000;REN34001;REN34002;REN34003;REN34004;REN34005;REN34006;REN34007;REN34008;REN34009;REN34010;REN34011;REN34012;REN34013;REN34014;REN34015;REN34016;REN34017;REN34018;REN34019;REN34020;REN34021;REN34022;REN34023;REN34024;REN34025;REN34026;REN34027;REN34028;REN34029;REN34030;REN34031;REN34032;REN34033;REN34034;REN34035;REN34036;REN34037;REN34038;REN34039;REN34040;REN34041;REN34042;REN34043;REN34044;REN34045;REN34046;REN34047;REN34048;REN34049;REN34050;REN34051;REN34052;REN34053;REN34054;REN34055;REN34056;REN34057;REN34058;REN34059;REN34060;REN34061;REN34062;REN34063;REN34064;REN34065;REN34066;REN34067;REN34068;REN34069;REN34070;REN34071;REN34072;REN34073;REN34074;REN34075;REN34076;REN34077;REN34078;REN34079;REN34080;REN34081;REN34082;REN34083;REN34084;REN34085;REN34086;REN34087;REN34088;REN34089;REN34090;REN34091;REN34092;REN34093;REN34094;REN34095;REN34096;REN34097;REN34098;REN34099;REN34100;REN34101;REN34102;REN34103;REN34104;REN34105;REN34106;REN34107;REN34108;REN34109;REN34110;REN34111;REN34112;REN34113;REN34114;REN34115;REN34116;REN34117;REN34118;REN34119;REN34120;REN34121;REN34122;REN34123;REN34124;REN34125;REN34126;REN34127;REN34128;REN34129;REN34130;REN34131;REN34132;REN34133;REN34134;REN34135;REN34136;REN34137;REN34138;REN34139;REN34140;REN34141;REN34142;REN34143;REN34144;REN34145;REN34146;REN34147;REN34148;REN34149;REN34150;REN34151;REN34152;REN34153;REN34154;REN34155;REN34156;REN34157;REN34158;REN34159;REN34160;REN34161;REN34162;REN34163;REN34164;REN34165;REN34166;REN34167;REN34168;REN34169;REN34170;REN34171;REN34172;REN34173;REN34174;REN34175;REN34176;REN34177;REN34178;REN34179;REN34180;REN34181;REN34182;REN34183;REN34184;REN34185;REN34186;REN34187;REN34188;REN34189;REN34190;REN34191;REN34192;REN34193;REN34194;REN34195;REN34196;REN34197;REN34198;REN34199;REN34200;REN34201;REN34202;REN34203;REN34204;REN34205;REN34206;REN34207;REN34208;REN34209;REN34210;REN34211;REN34212;REN34213;REN34214;REN34215;REN34216;REN34217;REN34218;REN34219;REN34220;REN34221;REN34222;REN34223;REN34224;REN34225;REN34226;REN34227;REN34228;REN34229;REN34230;REN34231;REN34232;REN34233;REN34234;REN34235;REN34236;REN34237;REN34238;REN34239;REN34240;RH12094;RH65906;stSG627168;stSG627169;stSG627170;stSG627171;stSG627172;stSG627173;stSG627175;stSG627176;stSG627177;stSG627180;stSG627183;stSG627184;stSG627185;stSG627186;stSG627187;stSG627188;stSG627189;stSG627191;stSG627192;stSG627196;stSG627197;stSG627198;stSG627199;stSG627200;stSG627204 KIAA0461;MGC71543;SUHW5;ZNF280E;ZNF635;ZNF635m OTTHUMP00000014468;OTTHUMP00000014469;OTTHUMP00000014470;OTTHUMP00000042874;OTTHUMP00000203655;OTTHUMP00000235067;pogo transposable element with ZNF domain;putative protein product of Nbla00003;suppressor of hairy wing homolog 5;zinc finger protein 280E;zinc finger protein 635 APPROVED protein-coding ENSG00000143442 18801 11445 614787 REVIEWED 1323795 POLD3 polymerase (DNA-directed), delta 3, accessory subunit This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] 11 11 q14 73981277 74031413 + 74303575 74354105 + 1580863;2306716;6480464;6907045;7246935 18157157;21601536 10219083;16510448;7910606;9099749;9111189;10559261;11473323;19237606;18818516;18765914;18157942;17932049;17081983;16935576;16934752;16000169;12477932;12171929;11595739;10852724;7584028;7584026;22634755;22902628;16763556;15701600;10822372;21252943;21832049;22801543;22863883;22939629;21139048;21693764;18029348;22148433;11328591;15576034;21628590;21670149;19471022 10714 E9PM91;E9PNC0;E9PRK3;H0YD46;H0YEX7;Q15054;Q32MZ9;Q32N00 ABBA01017481;AK297375;AK302677;AK316301;AK316370;AMYH01003813;AP001104;AP001324;BC020587;BC032636;BC041703;BC058840;BC092454;BC108908;BC108909;CH471076;D26018;DC402448;NM_006591;NR_046409;NR_046410 AAH20587;AAH32636;AAH92454;AAI08909;AAI08910;BAA05039;BAG59818;BAG63909;BAH14672;BAH14741;EAW74942;EAW74943;NP_006582;Q15054 Hs.82502 1660089;1670242;1695292;1719179;1777903;1856512;2217772 D11S4332;POLD3_3528;RH121316;RH12784;RH25276;SHGC-63006;STS-D26018 KIAA0039;MGC119642;MGC119643;P66;P68 DNA polymerase delta subunit 3;DNA polymerase delta subunit p66;DNA polymerase delta, subunit 3;OTTHUMP00000230480;OTTHUMP00000230481;OTTHUMP00000230482;Pol delta C subunit (p66);polymerase (DNA directed), delta 3 APPROVED protein-coding ENSG00000077514 20932 11446 611415 REVIEWED 1318336 POLD4 polymerase (DNA-directed), delta 4, accessory subunit This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 11 11 11 q13 64452172 64454205 - 66875595 66877593 - 67118236 67121067 - 1580863;2306716;6480464;6907045;7246935 18157157;21601536 10751307;15670210;9111189;10559261;11473323;18682526;16934752;16510448;12477932;12403614;19931513;20861182;15342556;17317665;21906983;21963094;8889548;21705323;23233665 57804 E9PL15;Q6NSD7;Q9BVB1;Q9HCU8 AB209274;ABBA01024039;AF179890;AMYH01003744;AP003419;AY928482;BC001334;BC070250;BG403692;BG576821;BM697399;BP263644;CH471076;NM_001256870;NM_021173;NR_046411;NR_046412;NR_046413 AAG08966;AAH01334;AAH70250;AAX09676;BAD92511;EAW74598;EAW74599;EAW74600;NP_001243799;NP_066996;Q9HCU8 Hs.523829 1665719;1731271;2159622;2217774;5014051;5015404;5015619;5016478;5016700;5022200;5022649;5037552;5109281;5117897 A007C03;D11S2875;D11S3114;D11S658;D1S1425;D8S2278;D8S2279;GDB:434012;GDB:631813;L17705;L18426;POLD4_3614;RH79802;WI-18546 POLDS;p12 DNA polymerase delta smallest subunit p12;DNA polymerase delta subunit 4;DNA polymerase delta subunit p12;OTTHUMP00000235271;OTTHUMP00000236818 APPROVED protein-coding 14106 17873 611525 REVIEWED 1312693 POLD2 polymerase (DNA directed), delta 2, accessory subunit This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012] 7 7 p13 44120812 44129655 - 44154279 44163169 - 1580863;2306716;6480464;6907045;7246935 18157157;21601536 15670210;8530069;9111189;10559261;11473323;19237606;18818516;18765914;16934752;16344560;15489334;15231747;12690205;12522211;12477932;12171929;11986310;11593007;11027336;10978529;10852724;10811112;9286699;20574454;16000169;16479163;16510448;20226869;21372597;21079801;22863883;21139048;18029348;11328591;12403614;21906983;15342556;15596820;22505724;22797925 5425 A4D2J4;B2R5S4;C9IZD2;C9J8Z7;C9JHC7;C9JLE1;F8W8R3;H7C1B3;P49005 AACC02000110;ABBA01058215;AC006454;AF239710;AK292347;AK298168;AK312294;AMYH01017209;AU117477;AW732014;AY116646;BC000459;BC030001;BP224472;CH236960;CH471128;DB025069;NM_001127218;NM_001256879;NM_006230;U21090 AAC50216;AAG09763;AAH00459;AAM51148;ABM82925;ABM86115;BAF85036;BAG35221;BAG60440;EAL23767;EAW61118;NP_001120690;NP_001243808;NP_006221;P49005 Hs.306791;Hs.740138 1771667;1789911;1789913;1789915;1789917;1789919;1789921;1789923;2146707;2190915 A006F20;MARC_1149-3079:996678917:1;RH71212;csnppold2-pcr1-1;csnppold2-pcr10-1;csnppold2-pcr2-1;csnppold2-pcr3-1;csnppold2-pcr4-1;csnppold2-pcr6-1;csnppold2-pcr7-1 DNA polymerase delta subunit 2;DNA polymerase delta subunit p50;OTTHUMP00000159252;OTTHUMP00000209249;OTTHUMP00000209250;Pol delta B subunit (p50);polymerase (DNA directed), delta 2, regulatory subunit 50kDa APPROVED protein-coding ENSG00000106628 9176 15982 600815 REVIEWED 736608 POLB polymerase (DNA directed), beta The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011] 8 8 p11.2 42315187 42348470 + 42195973 42229331 + 1580863;2302580;2317132;6480464;6907045 17412650;17230526 15489334;15314187;15145936;14627836;14506279;12665521;12517346;12477932;12453427;12370169;12196536;12173936;12067997;12063248;11955015;11923315;11912205;11827474;11805079;11756435;11467963;11242139;9572863;9294209;9287163;8841120;8841119;8841118;8769567;8125298;7914364;7705833;3284575;3182828;2460824;2423078;2040602;1511447;1408801;8978692;11250913;16600869;15725623;8168825;9207062;10559261;19339270;19336415;19329428;19237606;19167932;19147782;19120024;19104052;18937502;18686630;18676680;18471977;18313385;18161950;18039710;18006695;17855454;17526740;17355977;17321545;17286973;17283177;17209556;17203305;17176113;17131038;17127106;17065437;16609022;16195237;16188889;16169070;16060670;15963946;15764500;15753095;15731342;15601998;15561706;15548520;18270339;15520167;11163244;15107487;15260972;20519499;20459144;21362556;20465217;20574454;21305655;17173071;20805875;19170196;19330779;19536092;19625176;19635489;19692168;19747104;19838217;19842163;20006562;20150366;20226869;20403997;20496165;20522537;22692827;23144153;23144635;20423048;20526335;14988403;16543152;19713937;21107011;22901161;23144716;23013478;21739967;20302655;20303835;15342556;21884718;8889548;22799326;23585564;21733843;21757740;10629618;21139048;22070286;22162999;22341651;22379092;23098424;15367657;22373917;22573322;22577134;23117284 5423 B7Z1W5;E5RG65;E5RHZ4;E5RIJ0;E5RJ55;E7EW18;E9PIC6;H0YAV8;H0YB29;H0YBJ0;H0YBX1;P06746 ABBA01021153;ABBA01021154;ABBA01021155;AC083973;AC107885;AF491812;AK223537;AK294025;AK314976;AMYH01018679;AMYH01018680;BC100288;BC106909;BM678092;BP370570;CH471080;CR536503;CR541802;D29013;J04201;JQ664683;JQ927442;L11607;M13140;NM_002690;S82473;U10526;X68633 AAA60133;AAA60134;AAB37518;AAB59441;AAB60688;AAI00289;AAI06910;AAL91594;AFI72772;BAA06099;BAD97257;BAG37475;BAH11651;CAA48603;CAG38741;CAG46601;EAW63221;NP_002681;P06746 Hs.654484 1687009;2146973;5037598;5037600;5037602;5037604;5037606;5117036 D8S2286;D8S2287;D8S2288;D8S2289;D8S2290;GDB:384702;RH25936;SGC31519 MGC125976 DNA pol beta;DNA polymerase beta;DNA polymerase beta subunit;OTTHUMP00000225870;OTTHUMP00000225872;OTTHUMP00000226045;OTTHUMP00000226048;mutant DNA polymerase beta APPROVED protein-coding ENSG00000070501 9174 07517 174760 VALIDATED 731623 POLA2 polymerase (DNA directed), alpha 2, accessory subunit 11 11 11 q13.1 62355790 62391446 + 64786006 64821664 + 65029432 65065088 + 1580863;6480464;6907045 15489334;15231747;8223465;6693436;9822671;11473323;19237606;16964243;16169070;15302935;14702039;12546699;12477932;12181327;11433027;1902230;9518481;22863883;19615732;20800603;21832049;22939629;18029348;21900206;21987572;21139048;21890473;21906983;22593576;22505724 23649 B4DNB4;E9PIQ6;E9PQ99;H0YDR7;Q14181 ABBA01024129;AK025315;AK094569;AK297842;AK307831;AK309284;AMYH01003718;AP000944;BC001347;BC002990;BC018813;BC018814;CH471076;CR456737;L24559;NM_002689 AAA16459;AAH01347;AAH02990;ABM82949;ABM86141;BAG52888;BAG60176;CAG33018;EAW74373;NP_002680;Q14181 Hs.201897 1677574;1725679;1776479;1793882;1858389;2133489;2152274;2177135;2186998;2217770 D11S4591;D11S4653;G33107;G33108;G33109;G62107;PMC303366P6;POLA2_3563;RH17414;RH98539 FLJ21662;FLJ37250 DNA polymerase alpha 70 kDa subunit;DNA polymerase alpha subunit B;OTTHUMP00000231593;dna polymerase alpha subunit ii;polymerase (DNA directed), alpha 2 (70kD subunit);polymerase (DNA-directed), alpha (70kD) APPROVED protein-coding 30073 10160 PROVISIONAL 734076 POLD1 polymerase (DNA directed), delta 1, catalytic subunit This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012] 19 19 q13.3 55579405 55613083 + 50887580 50921275 + 1580863;737798;1358139;2306716;6480464;6907045;7246935;7240710 12429860;18157157;21601536 16762037;15670210;3335506;1730053;9111189;3146346;10559261;11473323;19329428;19237606;18701435;18676680;18270339;17203305;16934752;15489334;15113441;14767555;12806015;12477932;12403614;12393188;12220650;12171929;11923315;10852724;9620226;9563011;9545286;9286699;2436659;1722322;1542570;1427831;16169070;17353931;10608806;18247557;21145461;23263490;19913121;20574454;20628086;16510448;17474147;19170196;19557333;19625176;19692168;20070946;20226869;20496165;20522537;14988403;10559260;15805117;16226712;16488880;16543152;22887995;20811636;22939629;22942285;16196087;17314511;20227374;20541997;21918226;11328591;21415862;21987572;15995249;22465957;7490075;9030545;12530964;21252943;21705323;21044950;21139048;21890473;21906983;8889549;22863883;23585564;23447401;21963094;22678362;22915169;23000965;23251661;22505724;22761421 5424 M0QXE6;M0QXQ2;M0QZB4;M0QZR8;M0R2B7;M0R2I8;M0R2J2;P28340;Q59FA0 AA236879;AB209560;ABBA01068324;ABBA01068325;ABBA01068326;ABBA01068327;ABBA01068328;AC008655;AC020909;AMYH01009936;AMYH01009937;AMYH01009938;AMYH01009939;AY129569;BC008800;BM193218;CD101690;CH471135;DQ234348;M80397;M81735;NM_001256849;NM_002691;NR_046402 AAA35768;AAA58439;AAH08800;AAM76971;ABB29977;ABM86879;ABW03832;BAD92797;EAW71856;EAW71857;NP_001243778;NP_002682;P28340 Hs.279413 1664212;1678067;5117598;5124811 GDB:583955;RH47504;RH70542;RH93516 CDC2;CRCS10;POLD CDC2 homolog;DNA polymerase delta catalytic subunit;DNA polymerase subunit delta p125;DNA-directed polymerase delta 1;dna polymerase delta, catalytic subunit;polymerase (DNA directed), delta 1, catalytic subunit 125kDa APPROVED protein-coding ENSG00000062822 9175 08882 174761;612591 REVIEWED 1315967 POLDIP2 polymerase (DNA-directed), delta interacting protein 2 This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. The encoded protein also interacts with proliferating cell nuclear antigen. Some transcripts of this gene overlap in a tail-to-tail orientation with the gene for tumor necrosis factor, alpha-induced protein 1 (TNFAIP1). [provided by RefSeq, Jul 2008] 17 17 17 q11.2 23535404 23546357 - 23697786 23708730 - 26673659 26684603 - 6480464 15489336;12477932;18063578;19574552;17623671;16428295;16381901;16169070;15811854;15489334;12522211;11042152;11256614;11076863;21145461;20158880;20877624;20554254;21832049;20186120;21139048;21890473;21900206;21628590;15596820 26073 Q9UG21;Q9Y2S7 ABBA01015060;AC002094;AF077203;AF179891;AK293707;AK313232;AL110156;AMYH01008277;BC000655;BC009265;BC018864;BU932070;CA417611;CH471159;DB455962;NM_015584 AAD26998;AAH00655;AAH09265;AAK92018;BAG36043;BAG57140;CAB53663;CAL37990;EAW51078;NP_056399;Q9Y2S7 Hs.241543 1684752;1686670;2217776 POLDIP2_3570;RH17855;RH64911 DKFZp586F1524;PDIP38;POLD4 38 kDa DNA polymerase delta interaction protein;p38;polymerase delta interacting protein 38;polymerase delta-interacting protein 2 APPROVED protein-coding 23781 17874 611519 REVIEWED 1348983 POLE polymerase (DNA directed), epsilon, catalytic subunit 12 12 q24.3 131710421 131774018 - 133200348 133263945 - 1580863;6480464;6907045;7246935;7246936 21601536;12806123 16762037;14667819;1730053;9111189;6693436;12045100;19237606;19129559;19074885;17855454;18247557;14702039;14671302;14500819;12477932;12171929;11741962;11395493;10801849;10673506;10215605;9563011;9121429;8639508;8486689;8020968;17353931;20574454;20677014;10982879;12393188;20226869;20379614;20496165;20503108;20522537;20826785;21157497;10559260;23093410;22887995;23230001;22939629;22678362;23447401;17314511;20227374;21757740;22586326;21139048;21890473;21906983;21110914;22465957;22474384;21705323;23263490;21963094;23000965;22190034 5426 B3KS74;E7ETS8;F5H0H8;F5H1D6;F5H3W5;F5H5Q5;F5H7E4;F5H7H6;Q07864 ABBA01012376;ABBA01012377;ABBA01012378;ABBA01012379;AC131212;AC135586;AF127975;AF128542;AF128544;AK025087;AK093003;AK128248;AL080203;AMYH01004921;AY273166;AY405840;BC007599;BC011376;BC021559;BC087613;BC144561;BX647647;CH471218;HI574320;L09561;NM_006231;S60080;U49356 AAA15448;AAA90924;AAC19148;AAD44690;AAD44691;AAD44692;AAD45663;AAH07599;AAH21559;AAH87613;AAI72436;AAP12650;BAB15063;BAG52636;CAB45774;CBX47649;EAW54830;EAW54831;EAW54832;EAW54833;EAW54834;NP_006222;Q07864 Hs.524871 1856750;2170046 A004B47;RH64926 CRCS12;DKFZp434F222;FILS;FLJ21434;POLE1 DNA polymerase II subunit A;DNA polymerase epsilon catalytic subunit A;OTTHUMP00000237674;OTTHUMP00000237676 APPROVED protein-coding ENSG00000177084 9177 07177 174762 VALIDATED 1317190 POLE4 polymerase (DNA-directed), epsilon 4, accessory subunit POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] 2 2 2 p12 75017063 75028146 + 75039283 75050367 + 75185775 75196859 + 1580863;6480464;6907045;7246936 12806123 18838386;10801849;15815621;15489334;12477932;14500819;22939629;21900206;22053931;22190034 56655 Q9NR33 ABBA01075616;AC007400;AF261688;AI815728;AMYH01010456;AY034104;BC031331;BU597500;CA454961;CF529348;CH471053;NM_019896 AAF90132;AAH31331;AAY15030;EAW99597;EAW99598;EAW99599;NP_063949;Q9NR33 Hs.469060 1853114;2148040 D2S2045;SHGC-61984 YHHQ1;p12 DNA polymerase II subunit 4;DNA polymerase epsilon p12 subunit;DNA polymerase epsilon subunit 4;DNA polymerase epsilon subunit p12;OTTHUMP00000160432;polymerase (DNA-directed), epsilon 4 (p12 subunit) APPROVED protein-coding 18755 16238 607269 VALIDATED 1322337 POLDIP3 polymerase (DNA-directed), delta interacting protein 3 This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 22 q13.2 26890208 26921446 - 41309671 41340906 - 42979727 43010962 - 6480464;6484113 18423201;16984396;15635413;15489334;15461802;15341740;12529303;12522211;12477932;11258795;10591208;19615732;18029348;22939629;23145069;20811636;23398456;23455922;16196087;20360068;21139048;21890473;21906983;21907836;22586326;22121224;22900096;23084401 84271 B4DMM2;F8WCX5;F8WEE2;Q6R954;Q9NSP6 AB055760;ABBA01017933;AK024626;AK291623;AK291774;AK297532;AK299751;AK303419;AL080227;AL137743;AL160111;AL160112;AMYH01012821;AY422990;AY506562;BC001488;BC007397;BC019643;BC049840;BC056912;BC095411;BE268664;CH471138;CR456456;DC368557;DQ887818;NM_001278657;NM_032311;NM_178136;NR_103820;Z93241 AAH01488;AAH19643;AAH49840;AAH56912;AAH95411;AAQ94604;AAR91612;ABI74675;BAB33368;BAF84312;BAF84463;BAG59934;BAG61641;BAG64472;CAB77058;CAB77059;CAG30342;CAH56378;CAK54437;CAK54736;EAW73264;EAW73265;EAW73266;EAW73267;NP_001265586;NP_115687;NP_835237;Q9BY77 Hs.505802 1658905;1680240;1682750;1689099;1701746;2130459;2156694;2156822 AL008665;D22S1560;D22S965E;G19963;RH10763;RH28567;WI-18150;WIAF-2172 KIAA1649;PDIP46;SKAR 46 kDa DNA polymerase delta interaction protein;OTTHUMP00000198658;OTTHUMP00000198659;RNA-binding protein P46;S6K1 Aly/REF-like target;p46;polymerase delta interacting protein 46;polymerase delta-interacting protein 3 APPROVED protein-coding ENSG00000100227 23782 17875 611520 REVIEWED 1323687 POLE2 polymerase (DNA directed), epsilon 2, accessory subunit 14 14 q21-q22 49180028 49224685 - 50110270 50155098 - 1580863;6480464;6907045;7246936 12806123 9405441;9111189;6693436;12045100;19237606;18676977;16169070;15489334;12477932;11872158;11433027;10801849;9443964;14500819;19505873;11329013;20065316;18029348;22939629;21139048;21906983;21705323;22505724 5427 P56282;Q86SY9 ABBA01018113;ABBA01018114;AF025840;AF036899;AF387034;AK293163;AK314963;AL139099;AL591767;AMYH01005712;BC112962;BC126218;BC126220;BG189206;BX248064;CH471078;EF506887;NM_001197330;NM_001197331;NM_002692 AAC39610;AAC51920;AAI12963;AAI26219;AAI26221;AAK72254;ABO43040;ADR83207;BAG56707;CAD62358;EAW65754;NP_001184259;NP_001184260;NP_002683;P56282 Hs.162777 1656335;1687982;1729688;2127419;2137488;2137868;2155402;2167401 AFMA086YH5;D14S58;G35645;G35903;G36030;G36218;RH98671;SHGC-53864 DPE2 DNA polymerase II subunit 2;DNA polymerase epsilon subunit 2;DNA polymerase epsilon subunit B;OTTHUMP00000244475;OTTHUMP00000244476;OTTHUMP00000244477;polymerase (DNA directed), epsilon 2 (p59 subunit) APPROVED protein-coding ENSG00000100479 9178 16007 602670 VALIDATED 732179 POLG polymerase (DNA directed), gamma Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q25 87660554 87679030 - 89859536 89878026 - 1580900;737726;1580863;6480464;7240710 16181814;11431686 21357833;15181170;15164064;15177179;14739292;16263719;18063578;8884268;19566497;19425506;19275594;19251978;19243043;19237606;19189930;19054397;19043662;19010300;18828154;18798765;18632724;18585914;18581472;18575922;18546343;18504126;18502641;18487244;18446447;18446310;18321754;18316366;18294203;18270339;18238797;18195151;18193045;18080848;18062861;17923349;17894835;17846414;17725985;17711845;17650503;17650502;17436221;17426723;17420318;17339235;17310215;17300808;17209437;17088268;17005554;17005553;16987890;16970152;16957900;16943369;16929381;16896309;16682683;16639411;16595552;16574152;16553026;16545482;16490220;16487403;16464011;16401742;16392637;16327803;16130100;16080118;16024923;15981013;15929042;15824347;15694274;15650046;15534189;15489334;15477547;15356024;15351195;15349879;15181541;15122711;14745080;14729924;14694057;14688158;12975295;12872260;12857740;12825077;12707443;12686611;12645575;12565911;12477932;12210792;12144777;12036482;11897778;11756592;11687794;10827171;9742236;9465903;9119411;9034326;3619920;16751776;20826197;21993618;20701905;20843780;16488880;19435586;19478085;19501198;19578034;19629138;19730927;19752458;19762913;19807024;19813183;19837034;20138553;20142534;20153822;20181062;20198856;20220442;20399836;20400524;20522537;20601675;20176107;20558295;20734064;20800603;20877624;20818731;18546365;19815814;20438629;20513108;20685647;21038416;20803511;21228000;20643228;20691285;20818669;20883824;20927567;21138766;22711370;23066759;23250882;21670405;21102476;21455106;23543747;21696159;21953457;21778232;18500570;22084276;22517274;22276120;22194617;22577219;21906983;21550804;21824913;21856450;21704543;21880868;22334187;22267201;22728862;20301382;20301791;22000311;22528963;23525847;22684821;23251356;22963882;20467438;21963094;22729384;22580846;22552686 5428 E5KNU5;H0YCD2;H0YCV2;H0YD36;H0YDF1;H0YE43;P54098 ABBA01053007;AC124068;AF497906;AK130624;AK291281;AL110092;AMYH01006914;AW015913;AY377897;BC042571;BC050559;CH471101;D84103;DQ285412;DQ285413;DQ578997;DQ599934;HQ205386;HQ205387;HQ205388;HQ205389;HQ205390;HQ205391;HQ205392;HQ205393;HQ205394;HQ205395;HQ205396;HQ205397;HQ205398;HQ205400;HQ205401;HQ205402;HQ205404;HQ205405;HQ205406;HQ205407;HQ205408;HQ205409;HQ205410;HQ205411;HQ205412;HQ205413;HQ205414;HQ205415;HQ205417;HQ205418;HQ205419;HQ205420;HQ205421;HQ205422;HQ205423;HQ205424;HQ205425;NG_008218;NM_001126131;NM_002693;U60325;U74651;X98093 AAB18268;AAC50712;AAH42571;AAH50559;AAM77583;AAR32994;ABB89206;ABB89207;ADP90854;ADP90855;ADP90856;ADP90857;ADP90858;ADP90859;ADP90860;ADP90861;ADP90862;ADP90863;ADP90864;ADP90865;ADP90866;ADP90868;ADP90869;ADP90870;ADP90872;ADP90873;ADP90874;ADP90875;ADP90876;ADP90877;ADP90878;ADP90879;ADP90880;ADP90881;ADP90882;ADP90883;ADP90885;ADP90886;ADP90887;ADP90888;ADP90889;ADP90890;ADP90891;ADP90892;ADP90893;BAA12223;BAF83970;CAA66719;EAX02045;EAX02046;EAX02047;NP_001119603;NP_002684;P54098 Hs.706868 1685854;1767839;1789925;1789927;2112936;2112980;2122034;2135114;2168462;2191791;5094845 D15S1388;D15S1449E;G16014;MARC_7859-7860:996688105:3;POLG;RH67845;RH68306;RH77770;RH93713;csnppolg-pcr2-1;csnppolg-pcr23-1 FLJ27114;MDP1;MIRAS;MTDPS4A;MTDPS4B;PEO;POLG1;POLGA;SANDO;SCAE DNA polymerase subunit gamma-1;OTTHUMP00000194455;OTTHUMP00000236192;PolG, catalytic subunit;PolG-alpha;dna polymerase gamma;mitochondrial DNA polymerase catalytic subunit APPROVED protein-coding ENSG00000140521 9179 01438 157640;174763;203700;258450;607459;613662 REVIEWED 1344068 POLE3 polymerase (DNA directed), epsilon 3, accessory subunit POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] 9 9 9 q33 86817115 86820629 - 115209342 115212773 - 116169515 116173029 - 1580863;6480464;6907045;7246936 12806123 10801849;17081983;16344560;15489334;15164053;14702039;12477932;11000277;10880450;9110174;22242598;8619474;14500819;16189514;18838386;14759371;22863883;21832049;22939629;21172662;19471022;21139048;21890473;21906983;21705323;23000965;22190034 54107 Q9NRF9 ABBA01042684;AF070640;AF226077;AF261689;AK074629;AK074762;AK074782;AK092840;AK096050;AL137066;AMYH01021669;AY720898;BC003166;BC004170;CH471090;CQ783515;CQ783655;DA477404;DA521953;DA908447;DQ072116;NM_001278255;NM_017443;NR_027261 AAF72417;AAF90133;AAH03166;AAH04170;AAU15052;AAY57326;ADZ15955;BAC11099;BAC11190;BAC11206;CAF86695;CAF86796;EAW87381;EAW87382;NP_001265184;NP_059139;Q9NRF9 Hs.108112 1655260;1676820;2132880;2139799 D9S2097;RH15642;RH17227;SHGC-24263 CHARAC17;CHRAC17;YBL1;p17 CHRAC-17;DNA polymerase II subunit 3;DNA polymerase epsilon p17 subunit;DNA polymerase epsilon subunit 3;DNA polymerase epsilon subunit p17;OTTHUMP00000021954;OTTHUMP00000021955;arsenic transactivated protein;arsenic-transactivated protein;asTP;chromatin accessibility complex 17 kDa protein;histone fold protein CHRAC17;huCHRAC17;polymerase (DNA directed), epsilon 3 (p17 subunit) APPROVED protein-coding ENSG00000148229 13546 06274 607267 VALIDATED 1312978 POLG2 polymerase (DNA directed), gamma 2, accessory subunit This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009] 17 17 q 59904364 59923631 - 62473902 62493184 - 1580863;6480464;7240710 10608893;22155748;21110914;18063578;19478085;19625489;19858216;16263719;9153213;18575922;17494052;16697732;16685652;12477932;12379656;10677218;10666468;19913121;20628086;20877624;20843780;21555342;21734712;19837034 11232 E5KS15;J3KRM2;J3QRU9;Q9UHN1 ABBA01035296;ABBA01035297;ABBA01035298;AC009994;AC138744;AC234063;AF142992;AF177201;AF184344;AK307801;AMYH01008560;BC000913;BC009194;BI826587;CH471109;HQ205826;HQ205827;HQ205828;HQ205829;HQ205830;HQ205831;HQ205832;HQ205834;HQ205835;HQ205836;HQ205837;HQ205838;HQ205839;HQ205840;HQ205841;HQ205842;HQ205843;HQ205844;HQ205845;HQ205846;HQ205847;HQ205848;HQ205849;HQ205850;HQ205851;HQ205852;HQ205853;HQ205854;HQ205855;HQ205856;HQ205857;HQ205858;HQ205859;HQ205860;HQ205861;HQ205862;HQ205863;HQ205864;HQ205865;NG_013029;NM_007215;U94703 AAC51321;AAD50382;AAD56542;AAD56640;AAH00913;AAH09194;ADP91694;ADP91695;ADP91696;ADP91697;ADP91698;ADP91699;ADP91700;ADP91702;ADP91703;ADP91704;ADP91705;ADP91706;ADP91707;ADP91708;ADP91709;ADP91710;ADP91711;ADP91712;ADP91713;ADP91714;ADP91715;ADP91716;ADP91717;ADP91718;ADP91719;ADP91720;ADP91721;ADP91722;ADP91723;ADP91724;ADP91725;ADP91726;ADP91727;ADP91728;ADP91729;ADP91730;ADP91731;ADP91732;ADP91733;EAW94204;NP_009146;Q9UHN1 Hs.437009 1665121;1699176 RH103168;WI-22548 HP55;MTPOLB;PEOA4;POLB;POLG-BETA;POLGB DNA polymerase gamma accessory 55 kDa subunit;DNA polymerase subunit gamma-2, mitochondrial;mitochondrial DNA polymerase accessory subunit;mitochondrial DNA polymerase subunit gamma-2;mitochondrial DNA polymerase, accessory subunit;p55 APPROVED protein-coding ENSG00000256525 9180 09228 604983;610131 REVIEWED 1354283 POLN polymerase (DNA directed) nu 4 4 4 p16.3 1985702 2143306 - 2043443 2200756 - 2073645 2230958 - 1580863 17118716;14702039;12794064;20102227;19995904;20379614;19908865;23045531;20554254;20967207;21242293;16611994;21671477;22262850;22008035;22456510;22159054;22623772 353497 H0YA88;Q7Z5Q5 ABBA01029517;ABBA01029518;ABBA01029519;ABBA01029520;AF044578;AK131239;AK303673;AL122048;AL136360;AL158068;AMYH01013874;AY136549;BX509164;CH471131;DQ060036;NM_181808 AAD02338;AAI46298;AAI56717;AAI56872;AAN52116;AAY43130;BAD18421;BAG64670;EAW82538;EAW82539;NP_861524;Q7Z5Q5 Hs.368454 1668897;1699102;1730000;1857295;2117872;2119870;2120927;2124423;2145262;5022200;5022651 D11S2921;D4S1182;D4S166;D4S573;D4S608;G01869;G16699;G34191;L18426;RH103127;SHGC-50695 POL4P DNA polymerase N;DNA polymerase POL4P;DNA polymerase nu;OTTHUMP00000114827;OTTHUMP00000216538 protein-coding ENSG00000130997 18870 17876 610887 VALIDATED 1320324 POLQ polymerase (DNA directed), theta 3 3 q13.33 122632963 122747543 - 121150273 121264853 - 1580863;6480464 10395804;19237606;19188258;18503084;18366182;18270339;17150533;16835218;16824193;16603639;16520097;16222339;16188888;15496986;15342556;14735462;14576298;12051913;7829101;17353931;19661089;20624954;20700469;23502783;22135286 10721 O75417;Q59EE4 AA767021;AB209867;ABBA01016483;ABBA01016484;ABBA01016485;ABBA01016486;AC069239;AC079841;AF043628;AF052573;AF090919;AMYH01013425;AW021928;AY032677;AY338826;BC034254;BP365212;CH471052;CR936627;NM_199420 AAC33565;AAD05272;AAF24036;AAI72289;AAK39635;AAR08421;BAD93104;CAI56770;EAW79510;EAW79511;EAW79512;EAW79513;EAW79514;NP_955452;O75417 Hs.241517 1338678;1738457;1759295;1771073;1784640;1789947;1789949;1789951;1789953;1789955;1789957;1789959;1789961;1789963;1789965;1789967;1789969;1789971;1789973;1789975;2185946;5015619;5037552 A005M24;D11S3114;D3S3154;D3S3709;D8S2279;SHGC-132148;SHGC-13740;SHGC-151004;csnppolq-pcr1-1;csnppolq-pcr1-2;csnppolq-pcr1-3;csnppolq-pcr1-4;csnppolq-pcr1-5;csnppolq-pcr10-1;csnppolq-pcr11-1;csnppolq-pcr12-1;csnppolq-pcr13-1;csnppolq-pcr14-1;csnppolq-pcr3-1;csnppolq-pcr6-1;csnppolq-pcr7-1;csnppolq-pcr8-1;csnppolq-pcr9-1 DKFZp781A0112;POLH;PRO0327 DNA polymerase eta;DNA polymerase theta;OTTHUMP00000215154 protein-coding ENSG00000051341 9186 10375 604419 VALIDATED 1317912 POLM polymerase (DNA directed), mu 7 7 p13 44078371 44088607 - 44111846 44122129 - 1580863;6480464;6907045 19237606;16963491;16061182;15520469;15504045;15199127;14702039;14581466;12640116;12477932;12368208;12228225;12077346;11974916;11972346;11724965;10982892;10737800;10747040;17588522;19805281;23034807;22897684;23275568;23143108 27434 C9J222;C9JF34;F8WB78;F8WDE4;F8WEJ1;H7C2M2;Q6P5X8;Q6PIY2;Q86WQ9;Q9H980;Q9NP87 AACC02000110;ABBA01058213;AC017116;AF176097;AJ131891;AK023002;AK092801;AK092903;AK291638;AK294449;AK307634;AMYH01017208;AY899911;BC026306;BC035685;BC049202;BC062590;BI001584;CH236960;CH471128;DC407437;NM_013284 AAF26284;AAH26306;AAH49202;AAH62590;AAW65376;BAB14353;BAF84327;BAG57686;CAB65075;EAW61120;EAW61121;EAW61122;EAW61123;EAW61124;EAW61125;EAW61126;EAW61127;NP_037416;Q9NP87 Hs.596982 1778236;1789929;1789931;1789933;1789935;1789937;1789939;1789941;1789943;1789945;2217782 GDB:4585669;POLM_3577;csnppolm-pcr1-1;csnppolm-pcr11-1;csnppolm-pcr2-1;csnppolm-pcr3-1;csnppolm-pcr4-1;csnppolm-pcr6-1;csnppolm-pcr7-1;csnppolm-pcr8-1;csnppolm-pcr9-1 FLJ35482;Pol Mu;Tdt-N DNA polymerase mu;DNA-directed DNA/RNA polymerase mu;OTTHUMP00000207777;OTTHUMP00000207780;OTTHUMP00000207782;Pol iota;polymerase (DNA-directed), mu;terminal transferase protein-coding ENSG00000122678 9185 16208 606344 VALIDATED 1317600 POLL polymerase (DNA directed), lambda This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010] 10 10 q23 103328629 103337963 - 103338639 103348027 - 1580863;6480464;6907045 10982892;19467241;19237606;19120024;19104052;19074885;19060005;18692600;18688254;17686665;17666409;17653665;17321545;17005572;16807316;16675458;16522650;16189514;15979954;15665310;15608652;15537631;15489334;15358682;15350147;15202001;15164054;15157109;14992725;14702039;14657033;14627824;16174846;14561766;12911298;12829698;12809503;12683997;12477932;12368291;12081642;11974915;11821417;11784855;11457865;10966791;10887191;21145461;22317757;20435673;20423048;20805875;20851705;16385451;17507928;17588522;19701199;19806195;19820168;19900463;20348107;20693240;20975951;21832049;21757740;21486570;20164241;22373917;23330920;23118481;22584622 27343 A8K860;B4DEF5;B7Z1M4;Q5JQN9;Q5JQP0;Q5JQP1;Q5JQP2;Q5JQP3;Q5JQP4;Q5JQP7;Q5JQP8;Q9BTN8;Q9HAJ3;Q9HBN3;Q9UGP5 ABBA01063193;AF161019;AF218027;AF283478;AF525924;AJ131890;AJ844641;AJ844642;AK021600;AK022476;AK091106;AK094956;AK127896;AK292225;AK293421;AK293602;AK293657;AK300862;AL627424;AL702021;AMYH01003008;AY302442;BC003548;BC068529;CH471066;DC296090;DC379162;DC409528;NG_017063;NM_001174084;NM_001174085;NM_013274;NR_033406 AAF27541;AAG17269;AAG22519;AAH03548;AAH68529;AAM77696;AAQ74388;BAB13852;BAB14050;BAF84914;BAG54595;BAG56928;BAG57066;BAG62511;BAH11560;CAB65074;CAH59753;CAH59754;EAW49757;EAW49758;EAW49759;EAW49760;EAW49761;EAW49762;EAW49763;EAW49764;EAW49765;EAW49766;EAW49767;EAW49768;NP_001167555;NP_001167556;NP_037406;Q9UGP5 Hs.523230 1653764;2217780 POLL_3576;STS-W69567 BETAN;FLJ46002;POLKAPPA DNA polymerase beta-2;DNA polymerase beta-N;DNA polymerase kappa;DNA polymerase lambda;OTTHUMP00000020320;OTTHUMP00000020321;OTTHUMP00000020322;OTTHUMP00000020323;OTTHUMP00000020326 APPROVED protein-coding ENSG00000166169 9184 09394 606343 REVIEWED 1343998 POLK polymerase (DNA directed) kappa External and internal DNA-damaging agents continually threaten the integrity of genetic material in cells. Although a variety of repair mechanisms exist to remove the resulting lesions, some lesions escape repair and block the replication machinery. Members of the Y family of DNA polymerases, such as POLK, permit the continuity of the replication fork by allowing replication through such DNA lesions. Each Y family polymerase has a unique DNA-damage bypass and fidelity profile. POLK is specialized for the extension step of lesion bypass (summary by Lone et al., 2007 [PubMed 17317631]).[supplied by OMIM, Jan 2010] 5 5 q13 74843337 74930889 + 74807657 74895646 + 1580863;6480464;7246935 21601536 10620008;19237606;19188081;19117014;18931375;18079151;17494052;17317631;17099721;16751196;16611994;16354708;16055723;15989980;15938713;21454642;15817457;15661663;15601657;15533436;15489334;15296733;15199127;15189446;15147214;14702039;14630940;12952891;12477932;12444249;12414988;12145297;11994005;11842189;11784855;11024016;10887153;10760255;10518552;22487424;16218959;18512958;19170759;19341290;19492058;19542228;19628463;19939936;20379614;20496165;21078407;23558743;22772988;20227374;22227292;20164241;21396873;22157819;23056190;21139048;15380106;22505724 51426 D6R9M8;D6RAE5;D6RAI7;D6RDX9;Q5Q9G5;Q5Q9G7;Q5Q9G8;Q96Q87 AB027564;AB036934;AB036935;AB209291;ABBA01061945;AC010245;AC026424;AC116341;AF163570;AF194973;AF315602;AF318313;AK026316;AK091659;AK314610;AMYH01015409;AY273797;AY769929;AY769930;AY769931;AY769932;BC014955;BC041798;BC050718;CH471084;NM_016218 AAF02540;AAF23270;AAH14955;AAH50718;AAN15780;AAN15781;AAP12648;AAV80827;AAV80828;AAV80829;AAV80830;BAA86943;BAB58975;BAB58976;BAC03714;BAD92528;BAG37179;EAW95762;EAW95763;EAW95764;EAW95765;NP_057302;Q9UBT6 Hs.135756 1775478;1785260;1794728;2154085;5022200;5024761;5117897 G16063;GDB:631813;L18426;PMC35453P3;RH36905;SHGC-105127;SHGC-33559 DINB1;DINP;POLQ DNA polymerase kappa;OTTHUMP00000128303;OTTHUMP00000222073;OTTHUMP00000222074;OTTHUMP00000222123;OTTHUMP00000222124;OTTHUMP00000222125;OTTHUMP00000222127 APPROVED protein-coding 9183 09291 605650 VALIDATED 1320482 POLH polymerase (DNA directed), eta This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. [provided by RefSeq, Jul 2008] 6 6 p21.1 43651923 43691357 + 43543878 43588260 + 1580863;6480464;7240710 15147214;15051760;14999287;14760703;14734526;14702039;14630940;14585988;14574404;14523013;12644471;12644469;12606586;12584190;12509472;12477932;12426396;12244178;11994004;11821420;11773631;11756691;11743006;11585903;11554790;11376341;11121129;11032022;10856253;10398605;10871396;10385124;17563354;18029348;19477635;19237606;19157994;19117014;19108641;19001268;18946034;18799611;18703314;18634905;18368133;18321066;18242151;18068156;17344931;17334634;17081983;16823845;16763556;16710452;16675950;16449651;16357261;16116089;16061253;15758026;15569147;15489334;15380106;15189446;15149598;22902628;20457011;16824193;17304240;18512958;19170759;19380493;19661089;19703417;19806028;19822754;19939936;20008555;20028736;20064529;20159558;20173781;20215648;20498091;20577208;20819778;21832049;21242293;21098111;21855803;21640722;21704031;15342632;22529383;22623531;15359278;21139048;21396873;21690293;21791603;21890473;21906983;22118674;23345618;22056306;22154937;20301571;22367195;19069642;20129057;22456510;22691049;21963094;23000965;23609533;22505724;22828282;22989887;23042605;23630267;23033487;22981619;23248005 5429 B4DG64;Q5JTF2;Q9Y253 AB024313;AB038008;ABBA01050671;ABBA01050672;ABBA01050673;AF158185;AJ420484;AK023893;AK025631;AK122807;AK294430;AK307660;AK316151;AL353602;AL355802;AMYH01016314;AMYH01016315;AMYH01016316;AY388614;BC015742;CH471081;DC416114;NG_009252;NM_006502 AAD43810;AAH15742;AAQ81300;BAA81666;BAB18601;BAG51237;BAG53738;BAG57675;BAH14522;EAX04209;EAX04210;EAX04211;EAX04212;NP_006493;Q9Y253 Hs.655467 1653650;1654944;1654946;1700258;1850026;1850028;2109685;2142613;5014051;5014063;5015404;5015619;5016478;5016596;5020740;5020885;5020946;5020948;5022200;5022578;5022651;5024413;5024756;5024761;5037552;5092348 A006I45;D11S2921;D11S3114;D15S1390;D1S1423;D6S2189;D8S2278;D8S2279;G20859;G35510;G49377;GDB:434012;GDB:631802;L17705;L17791;L17809;L17877;L17971;L18426;POLH_3410;RH103746;RH36905;RH46731;RH68887;RH80030;WI-20627 FLJ16395;FLJ21978;RAD30;RAD30A;XP-V;XPV DNA polymerase eta;OTTHUMP00000016478;OTTHUMP00000016480;RAD30 homolog A;xeroderma pigmentosum variant type protein APPROVED protein-coding 9181 04913 278750;603968 REVIEWED 1313103 POLI polymerase (DNA directed) iota 18 18 q21.1 50049847 50078602 + 51795849 51824604 + 6480464 14630940;10458907;11256614;19440206;19368886;19237606;19162565;19116388;19074885;18984581;18923427;18799611;18270339;18194848;17609217;17056006;16914729;16763556;16527824;16472831;16381901;16357261;16354708;16344560;16195237;16189514;16166652;15657443;15609317;15489336;15489334;15342632;15313897;15254543;15231748;15199127;15189446;14702039;14701763;21454642;12777390;12606586;12477932;12466554;12426396;12410315;11707422;11515498;11402031;11387224;11356150;11251121;11230166;11205331;11076863;11013228;10887158;10856253;21300901;20574454;18029348;19060904;19170759;19604477;19767609;19789190;19861517;20159559;20226869;20453000;20496165;20673215;20961860;22817454;21832049;21139048;21890473;21906983;11724965;18931444;23000965;23248005;22505724 11201 J3KQ09;J3KRG0;J3KRS8;J3KSW2;J3KTM8;J3KTN3;J3QQZ8;J3QR36;Q9UNA4 ABBA01018716;AC093462;AF140501;AF245438;AK093688;AK226057;AK301578;AL136670;AMYH01009011;AY094607;BC032617;BC032662;BM993293;BX649100;CH471096;DA315805;DB450447;NM_007195 AAD50381;AAF63383;AAH32662;AAM11872;ABM81819;ABM87810;BAH13516;CAB66605;CAL37856;EAW63000;EAW63001;NP_009126;Q9UNA4 Hs.438533 1697720;1724717;1794724;2131564;2187430;2217778;5015861;7185938 D10S16;PMC35453P1;POLI_3544;RH102380;RH122562;RH67916;WI-11064 RAD30B;RAD3OB DNA polymerase iota;OTTHUMP00000163557;RAD30 homolog B;eta2;polymerase (DNA-directed), iota protein-coding ENSG00000101751 9182 16094 605252 VALIDATED 1345694 POLR1A polymerase (RNA) I polypeptide A, 194kDa 2 2 2 p11.2 86081632 86161424 - 86106962 86186789 - 86253451 86333278 - 1580863;6480464;6907045 10477523;22106380;9582279;12393749;12646563;15342556;14743216;12477932;12446911;9236775;11250903;10567578;15226435;9285060;16514417;19214185;17643375;19615732;20379614;16618798;22939629;16196087;20541997;19596686;21878508;21139048;21890473;21906983;22147730;17620599;22318606;22586326;22505724 25885 B9ZVN9;F2Z3I7;O95602;Q9H6T2 ABBA01075772;AC009309;AC012511;AK025568;AK294447;AK302458;AK304131;AK307490;AL117467;AMYH01010498;BC017115;BC073968;BC117173;BC126303;BC143345;BP363163;CH471053;NM_015425;U33460 AAC99959;AAH17115;AAI17174;AAI26304;AAI43346;AAY24277;BAB15171;BAH11770;BAH13716;BAH14113;CAB55942;EAW99467;EAW99468;EAW99469;NP_056240;O95602 Hs.531818 1689642;1783970;2128155 RH94225;SHGC-132988;SHGC-58379 A190;DKFZp586M0122;FLJ21915;MGC87965;RPA1;RPA194;RPO1-4;RPO14 DNA-directed RNA polymerase I largest subunit;DNA-directed RNA polymerase I subunit A;DNA-directed RNA polymerase I subunit A1;DNA-directed RNA polymerase I subunit RPA1;OTTHUMP00000203249;OTTHUMP00000203250;RNA polymerase I 194 kDa subunit;RNA polymerase I subunit A1 protein-coding ENSG00000068654 17264 10161 VALIDATED 1348858 POLR1B polymerase (RNA) I polypeptide B, 128kDa Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008] 2 2 q13 113016084 113051879 + 113299492 113334727 + 1580863;6480464;6907045 16514417;9582279;12393749;12646563;18194663;17499043;16880508;16055704;21145461;15815621;15226435;14743216;14702039;12477932;11981034;11953755;11592397;11250903;9254723;8921381;15558034;17474147;19615732;19214185;20211142;21555369;22939629;18029348;21139048;21890473;21906983;17620599;22505724 84172 C9JJG2;C9JS83;F5GZX4;F5H643;F8W898;F8WAK7;F8WBB9;F8WCS3;F8WDS4;H7C0D9;Q9H9Y6 ABBA01074257;AC012442;AK001678;AK022533;AK022890;AK025574;AK128044;AK172817;AK294027;AK301178;AK302814;AMYH01010966;BC004882;BC073857;BC096748;BC110833;BC150139;BX647360;BX647683;CH471217;NM_001137604;NM_019014 AAH04882;AAH73857;AAH96748;AAI10834;AAX81999;BAA91831;BAB14082;BAB14296;BAB15175;BAC87247;BAH11652;BAH13423;BAH13809;EAW73590;EAW73591;EAW73592;EAW73593;NP_001131076;NP_061887;Q9H9Y6 Hs.86337 1699442;1772423;2114076;2217784;5014029;5015861;5022200;7185938 AB070203;D10S16;D13S1639;D2S1838;L18426;POLR1B_3628;RH103312 FLJ10816;FLJ21921;MGC131780;RPA135;RPA2;Rpo1-2 DNA-directed RNA polymerase I 135 kDa polypeptide;DNA-directed RNA polymerase I 135kDa polypeptide;DNA-directed RNA polymerase I subunit RPA2;OTTHUMP00000161989;OTTHUMP00000203643;OTTHUMP00000203645;RNA polymerase I subunit 2 APPROVED protein-coding ENSG00000125630 20454 06852 602000 VALIDATED 1348749 POLR2CP polymerase (RNA) II (DNA directed) polypeptide C, pseudogene 21 21 21 q11.2 1299611 1301274 + 15051680 15053503 + 16129879 16131542 + 10830953 54038 ABBA01057084;AF127936;AMYH01012140;NG_000915 pseudo 9190 INFERRED 1602318 POLR1E polymerase (RNA) I polypeptide E, 53kDa 9 9 9 p13.2 37419179 37436922 + 37475945 37493693 + 37485945 37503693 + 6480464;6907045 14585813;12429849;16514417;17353931;15489334;15226435;15164053;14743216;14702039;14627545;14613906;12477932;18239623;11698641;9254723;8641287;8125298;19214185;18029348;19615732;20379614;21263028;22939629;22990118;21139048;21549307;21906983;17620599 64425 E7EX70;Q9GZS1 ABBA01050394;AK023452;AK024032;AK091294;AK125471;AK225050;AK301347;AK302345;AK303167;AL158156;AMYH01019358;BC001337;BC009757;BC014180;BC014331;BC017766;CH471071;CR457313;NM_022490 AAH01337;AAH14331;BAB14579;BAB14791;BAC03629;BAG62895;BAG63673;BAG64267;CAG33594;EAW58280;EAW58281;NP_071935;Q9GZS1 Hs.591087;Hs.733126 1762603;2125602;2217692;5037552 D8S2279;PAF53_3619;SHGC-146404;WI-21785 FLJ13390;FLJ13970;FLJ43482;PAF53;PRAF1;RP11-405L18.3 DNA-directed RNA polymerase I subunit E;DNA-directed RNA polymerase I subunit RPA49;OTTHUMP00000021385;OTTHUMP00000021386;RNA polymerase I associated factor 53;RNA polymerase I subunit A49;RNA polymerase I-associated factor 1;RNA polymerase I-associated factor 53;polymerase (RNA) I associated factor 1 protein-coding ENSG00000137054 17631 15096 PROVISIONAL 1320170 POLR1C polymerase (RNA) I polypeptide C, 30kDa The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Defects in this gene have been associated with Treacher Collins syndrome (TCS). [provided by RefSeq, Mar 2011] 6 6 p21.1 43592769 43605092 + 43484777 43489251 + 6480464;6907045;7240710 15489334;9540830;9582279;12393749;12646563;16189514;15635413;15592455;14743216;14574404;12477932;12446911;12391170;11971179;11790298;11042152;9653160;9254723;8955128;17353931;15226435;18247557;21145461;17207965;17148452;19615732;16341674;19214185;21131976;22939629;22863883;16196087;17620599;19738201;21963094;21988832;20301704;21139048;21890473;21906983;22505724 9533 D6RDJ3;E7EQB9;H0Y723;O15160 ABBA01050678;ABBA01050679;AF008442;AF047441;AK293561;AL355802;AMYH01016314;BC008118;BC008863;BM828768;BQ575535;CH471081;NG_028283;NM_203290 AAC14354;AAC39892;AAH08118;AAH08863;ADQ32708;BAG57033;EAX04204;EAX04205;EAX04208;NP_976035;O15160 Hs.743509 1753367;1854795;1856171;2178284;2182049;5127465 D6S1161E;D6S1340;D6S1888;RH18413;SHGC-107161;SHGC-53217 RP3-337H4.4;RPA39;RPA40;RPA5;RPAC1;TCS3 AC40;DNA-directed RNA polymerase I subunit C;DNA-directed RNA polymerases I and III 40 kDa polypeptide;DNA-directed RNA polymerases I and III subunit RPAC1;OTTHUMP00000016467;OTTHUMP00000016468;OTTHUMP00000016470;RNA polymerase I subunit;RNA polymerases I and III subunit AC1;RPC40 APPROVED protein-coding ENSG00000171453 20194 09661 248390;610060 REVIEWED 1343756 POLR1D polymerase (RNA) I polypeptide D, 16kDa The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] 13 13 q12.2 27094003 27139548 + 28194880 28241559 + 1580863;6480464;6907045;7240710 9582279;12393749;12646563;16189514;15635413;15489334;15057823;14743216;14702039;12477932;12446911;12391170;11042152;8955128;15226435;21471979;17207965;17643375;19724895;19834535;19851296;20198315;21131976;16344560;17205138;19359472;8619474;9110174;21139048;21906983;21963094;22939629;21988832;18624398;20301704 51082 Q7Z776;Q9Y2S0 ABBA01035743;AF077044;AF131855;AK000623;AK097973;AK307356;AK311833;AL136439;AMYH01004992;BC000889;BC006972;BC015319;BC018528;BC054519;BI253733;BQ004736;CH471075;DB123903;DB455307;DB459107;DB518623;DR156229;NG_028908;NM_001206559;NM_015972;NM_152705 AAD27777;AAH00889;AAH06972;AAH15319;AAH18528;ADQ33152;BAG34775;EAX08415;EAX08416;NP_001193488;NP_057056;NP_689918;Q9Y2S0 Hs.507584;Hs.735744 1664771;1684842;1739139;2117022;2144262;2217786;5113944 A004N11;D13S1105;POLR1D_3586;RH11226;RH78750;WI-12381;WI-20489 AC19;FLJ20616;MGC9850;POLR1C;RPA16;RPA9;RPAC2;RPC16;RPO1-3;TCS2 AC19;DNA-directed RNA polymerase I subunit D;DNA-directed RNA polymerases I and III subunit RPAC2;OTTHUMP00000018171;OTTHUMP00000018172;RNA polymerase I 16 kDa subunit;RNA polymerases I and III subunit AC2;RPC16;hRPA19 APPROVED protein-coding ENSG00000186184 20422 14717;17877 613715;613717 REVIEWED 1315832 POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008] 16 16 q13-q21 56054052 56063422 + 57496551 57505921 + 1580863;6480464;6907045 9405375;12226669;8946909;1939271;2449431;9409616;9512541;9790902;12676794;19237606;16455777;16169070;15489334;15282305;14569024;12887902;12860379;12642036;12634356;12477932;12379213;12221105;12207009;12126615;12114499;12052871;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10777215;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10493829;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9607318;9570510;9540830;9491887;9488465;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;8876177;8849451;8800208;8676484;8637904;8034326;7853496;7638159;2190099;2187864;1559613;12775419;12089333;17168834;16838299;16289656;16141233;15175163;18247557;21145461;17643375;18469135;9852112;19240132;16055720;21217813;20133760;20508642;22863883;22939629;22990118;16196087;18029348;12345;22318606;22446626;20421419;21139048;21693764;21900206;21906983;21963094;21987572;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22421880;22422068;22567366 5432 H3BRR2;P19387;Q6FGR6 ABBA01025272;AC004382;AC009052;AF008443;AJ224143;AJ224144;AK293112;AK300124;AMYH01007701;AMYH01007702;BC000409;BC003159;BC028157;BI458170;CH471092;CR542041;J05448;NM_032940 AAA36586;AAC14355;AAC24309;AAH00409;AAH03159;AAH28157;ABM82337;ABM85512;ABW03756;BAF85801;BAH13217;CAA11842;CAA11843;CAG46838;EAW82926;EAW82927;EAW82929;EAW82930;NP_116558;P19387 Hs.79402 1683657;1736592;1769048;1853842;2134463;2152580;2153911;2189445;2217788 Bdac5g11;D16S2566E;D16S2591E;D16S3334;MARC_6240-6241:992007189:1;POLR2C_3412;RH78396;SHGC-61053;STS-J05448 RPB3;RPB31;hRPB33;hsRPB3 DNA-directed RNA polymerase II 33 kDa polypeptide;DNA-directed RNA polymerase II subunit C;DNA-directed RNA polymerase II subunit RPB3;OTTHUMP00000164669;RNA polymerase II subunit 3;RNA polymerase II subunit B3;RPB33 APPROVED protein-coding ENSG00000102978 9189 15945 180663 REVIEWED 1319837 POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa This gene encodes the second largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with at least two other polymerase subunits, forms a structure within the polymerase that maintains contact in the active site of the enzyme between the DNA template and the newly synthesized RNA. [provided by RefSeq, Jul 2008] 4 4 q12 57539866 57592091 + 57845109 57897334 + 1580863;6480464;6907045 1518060;17353931;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9790902;12676794;18270511;17584298;17583472;17499043;17494052;15886393;15670829;15489334;15282305;14992727;14569024;12887902;12642036;12634356;12477932;12379213;12221105;12126615;12114499;12052871;12050112;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9334327;9315662;9311822;9201987;9184228;9121429;9110174;9054383;8934526;8910388;8876177;8849451;17998332;18247557;21145461;8800208;8676484;8637904;8619474;8034326;7853496;7638159;2320128;2190099;1559613;12775419;12089333;17168834;16838299;16289656;15175163;17643375;19237606;19270065;20085707;20379614;9852112;19240132;16055720;19454010;20211142;21081187;23383273;20133760;20508642;20516061;22863883;22939629;22990118;10024883;16196087;17314511;18029348;15840729;16239144;21139048;21415862;21693764;21890473;21906983;21963094;21987572;22118674;21909106;20881960;17376917;17661632;18209063;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22421880;22422068;22505724;22567366 5431 AAB23139;C9J2Y9;C9J4M6;C9JMN3;C9JZW8;P30876 ABBA01003448;ABBA01003449;AC069307;AF055028;AK289823;AK294901;AK295132;AK299090;AMYH01014198;BC023503;BC046499;CH471057;NM_000938;X63563 AAB23139;AAC09367;AAH23503;BAF82512;BAG57990;BAG58155;BAG61152;CAA45124;EAX05519;NP_000929;P30876 Hs.602757 1657203;1849404 D4S2603;SHGC-12841 POL2RB;RPB2;hRPB140;hsRPB2 DNA directed RNA polymerase II 140 kDa polypeptide, RNA polymerase II subunit 2, RNA polymerase II second largest subunit;DNA-directed RNA polymerase II 140 kDa polypeptide;DNA-directed RNA polymerase II subunit B;DNA-directed RNA polymerase II subunit RPB2;OTTHUMP00000158973;OTTHUMP00000201827;OTTHUMP00000218969;RNA polymerase II subunit 2;RNA polymerase II subunit B2 APPROVED protein-coding ENSG00000047315 9188 15943 180661 REVIEWED 1352013 POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008] 17 17 p13.1 7328422 7358653 + 7387698 7417935 + 1580863;6480464;6907045 7622068;10075709;10944529;14992727;16239144;17996703;9405375;12226669;8946909;2999107;16109376;1939271;2449431;12168660;12154023;12145330;12126615;12114499;12062018;12054881;12052871;12049628;11940650;11809800;11683387;11575923;11547919;11459828;11313019;11149922;11112772;11080476;10983978;10958691;10932246;10931842;10908677;10866664;10784442;10773068;10757782;10737800;10725406;10704353;10698937;10620016;10617616;10574912;10567706;10545121;10536359;10454562;10454543;10438593;10393805;10393184;10373521;10364292;10359081;10329125;10199401;10069959;10066804;9874563;9765293;9765201;9710619;9705270;9696809;9671816;9651670;9632813;9570510;9491887;9450929;9443979;9372911;9346935;9334327;9315662;9312053;9311822;9268387;9201987;9184228;9159119;9153302;9121429;9054383;9002523;8934526;8910388;8889548;8876177;8849451;11238380;9845365;8895581;10490622;14506230;12955082;11504724;11714725;12198243;9305922;7926747;12660246;12612062;12665589;14576433;15175163;15235609;14578343;16009131;12588988;15546612;15808510;15829968;15502823;15565158;9409616;9512541;9790902;12676794;19309309;19237606;18815126;18632853;18588899;18419580;18408764;18342606;18294453;18079404;18079403;18032511;17584298;17525170;17098194;17028590;16949370;16344560;16314571;16210313;16118227;16086846;15886201;15640154;15592455;15570572;15542435;15302935;15144186;15099517;14963322;14701755;14684736;14612417;14569024;14536091;12914699;12887902;12721286;12642036;12634356;12579324;12565871;12560496;12477932;12435728;12391174;12381297;12379213;12376575;12358429;12234934;12221105;12200141;16246722;8800208;8700889;8700522;8676484;8637904;8034326;7853496;7638159;7533294;6200476;4506230;3860504;3145407;2190099;1559613;1542581;1487824;435297;12775419;12089333;17168834;16838299;16289656;18285459;15494311;12036313;22895430;19913121;19920177;20628086;14580349;15632063;15989967;16055720;17353931;17643375;18029348;18464913;19270065;20083121;20085707;9128241;9852112;21264352;16936726;17011493;17050672;20864038;16491129;17210645;17218272;19106100;19141475;19214185;19240132;16061184;16195385;16199523;16319923;16341228;16735508;19454010;20978146;21072189;17998332;20941529;16196087;17314511;10024883;17526739;20178742;20541997;21782856;8692842;8890175;12604794;15613478;15863722;15890193;15919092;15999204;11278802;14627702;15009212;22863883;22939629;22990118;23086925;12372413;16327805;23064645;23100252;21329877;17234882;20308691;20081228;20133760;20508642;20516061;16957778;21873227;22446626;22586326;15282305;17283126;18391197;18624398;20360068;21030982;21088000;22020438;22053051;9311784;15711563;22684280;22966203;22988298;12591939;19037258;20421419;21139048;21693764;21890473;21906983;21963094;21987572;22108332;22178446;22195966;21235343;21326907;21880767;22343046;16916636;19322201;20972445;22549466;18247557;21145461;22261722;22605332;9305852;15282296;21536736;23192870;19249677;23349811;23455922;23752268;17376917;17661632;18209063;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22053931;22211660;22229121;22253435;22421880;22422068;22505724;22567366;18562274;21729782;23000965;23319609;23395899;23401853 5430 P24928;Q6NX41 ABBA01054871;AC113189;AK293777;AK304882;AMYH01008083;AW589665;BC067295;BC107140;BC137231;BQ353795;BQ891728;BU730469;BU739765;CH471108;CV355924;DA923649;M21610;NG_027747;NM_000937;X59443;X63564;X74870;X74871;X74872;X74873;X74874 AAA60135;AAH67295;AAI37232;BAG57192;BAG65619;CAA45125;CAA52862;EAW90181;EAW90182;EAW90183;NP_000928;P24928 Hs.270017 1656096;1694780;1701498;1788944;2139511;5016915 G43606;RH104382;RH80168;UniSTS:225108;WI-1288;WI-16243 MGC75453;POLR2;POLRA;RPB1;RPBh1;RPO2;RPOL2;RpIILS;hRPB220;hsRPB1 DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit;DNA-directed RNA polymerase II subunit A;DNA-directed RNA polymerase II subunit RPB1;DNA-directed RNA polymerase III largest subunit;RNA polymerase II subunit B1;RNA-directed RNA polymerase II subunit RPB1 APPROVED protein-coding ENSG00000181222 9187 08916 180660 REVIEWED 1318411 POLR2D polymerase (RNA) II (DNA directed) polypeptide D This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008] 2 2 q21 128320703 128332174 - 128603840 128615729 - 1580863;6480464;6907045 10784442;10777215;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9528765;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9790902;12676794;16282592;15489334;14569024;12887902;12642036;12634356;12477932;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;9491887;9334327;9315662;9311822;9184228;9121429;9054383;8934526;8910388;8876177;8849451;8800208;8676484;8637904;7853496;7638159;2190099;1559613;12775419;12089333;17168834;16838299;16289656;15175163;15893730;12393188;15604093;17643375;19237606;9852112;21145461;20211142;22939629;22990118;20133760;15282305;16239144;21139048;21906983;19322201;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22422068;22567366 5433 E9PB93;E9PHV4;O15514 AA775787;ABBA01040190;AC006011;AC012306;AMYH01011024;BC002958;BC010427;BC017205;BC093795;BC093797;CH471103;NM_004805;U85510;U89387 AAC52056;AAC80226;AAH10427;AAH17205;AAH93795;AAH93797;AAX82034;AAY14877;EAW95344;EAW95345;NP_004796;O15514 Hs.715348 1682575;1693830;2139232;2144008;2217790 Cda1le02;G27355;POLR2D_3413;RH78016;SHGC-58198 HSRBP4;HSRPB4;RBP4;RPB16 DNA-directed RNA polymerase II 16 kDa polypeptide;DNA-directed RNA polymerase II subunit D;DNA-directed RNA polymerase II subunit RPB4;OTTHUMP00000162266;OTTHUMP00000203872;OTTHUMP00000205986;RNA polymerase II 16 kDa subunit;RNA polymerase II subunit B4;RNA polymerase II subunit hsRBP4 APPROVED protein-coding ENSG00000144231 9191 16191 606017 REVIEWED 1604197 POLR2J2 polymerase (RNA) II (DNA directed) polypeptide J2 This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008] 7 7 q22.1 102064710 102099418 - 102277195 102312176 - 6480464;6907045 16913423;15987790;15586814;12477932;12036295;11747469;10784442;9847074;16751776 246721 F6W009 AB209398;AC004084;AC105052;AI073388;AJ277738;AJ277739;AMYH01017798;AMYH01017799;AMYH01017800;AMYH01017801;AMYH01017802;AMYH01017803;AMYH01017804;AMYH01017805;AMYH01017806;AMYH01017807;AMYH01017808;AMYH01017809;AMYH01017810;BC050598;BC056864;BC071870;BC086857;BC110985;DQ575764;NM_032959 AAH86857;AAP22341;AAP22342;BAD92635;CAC18329;NP_116581;Q9GZM3 Hs.610255;Hs.656696;Hs.700609;Hs.732239 5014029;5014749;5015861;5015961;5016478;5016944;5016959;5020948;5022200;5022450;5022578;5023327;5037552;5109281;5111975;5127386;7185938 D10S16;D10S275;D13S1639;D15S1477;D1S1423;D1S1425;D8S2279;G35510;G43579;GDB:434012;GDB:4585697;L18023;L18426;RH92722;RH93196;SHGC-31100 HRPB11B;MGC105050;MGC54043;RPB11b1 DNA directed RNA polymerase II polypeptide J-related;DNA-directed RNA polymerase II subunit J2;DNA-directed RNA polymerase II subunit RPB11-b1;OTTHUMP00000216459;RNA polymerase II subunit B11-b1 APPROVED protein-coding ENSG00000228049;ENSG00000267645 23208 17878 609881 REVIEWED 734063 POLR2F polymerase (RNA) II (DNA directed) polypeptide F This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes, that is also shared by the other two DNA-directed RNA polymerases. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. [provided by RefSeq, Jul 2008] 22 22 q13.1 36679664 36693752 + 38349674 38365319 + 1300048;6480464;6907045 9405375;12226669;8946909;18029348;1939271;2449431;9409616;9512541;9790902;12676794;18505059;16344560;15489334;15461802;14702039;14569024;12887902;12642036;12634356;12477932;12391170;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10757782;10725406;10704353;10698937;10623476;10617616;10591208;10545121;10542096;10536359;10438593;10393248;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;8876177;8849451;8800208;8786150;8676484;8637904;7853496;7803819;7638159;2190099;1559613;12775419;12089333;17168834;16838299;16289656;15175163;15989967;19237606;9852112;19240132;21832049;21890473;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22422068;22505724;22567366 5435 B0QYL8;B0QYL9;F8WC47;H0Y2U7;H0Y439;P61218 ABBA01055495;AF006501;AK094034;AK311128;AK311831;AL031587;AMYH01012758;BC003582;BU634038;CH471095;CR456546;CR457021;DA372532;NM_021974;Z27113 AAH03582;BAG34773;CAA81629;CAG30432;CAG33302;CAK54577;CAK54876;EAW60202;EAW60203;NP_068809;P61218 Hs.436578 5108401;5127505 D11S942E;RH71313 HRBP14.4;POLRF;RPABC2;RPB14.4;RPB6 DNA directed RNA polymerase II 14.4 kda polypeptide;DNA-directed RNA polymerase II subunit F;DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide;DNA-directed RNA polymerases I, II, and III subunit RPABC2;OTTHUMP00000199278;OTTHUMP00000199279;OTTHUMP00000199281;RNA Polymerase II subunit 14.4 kD;RNA polymerases I, II, and III subunit ABC2;RPABC14.4;RPB6 homolog;RPC15 APPROVED protein-coding ENSG00000100142 9193 05105 604414 REVIEWED 733856 POLR2G polymerase (RNA) II (DNA directed) polypeptide G This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009] 11 11 q13.1 62285591 62290757 + 62529011 62534187 + 1300048;6480464;6907045 14667819;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9790902;12676794;17848138;16327806;16282592;15489334;14569024;12912922;12887902;12642036;12634356;12477932;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10777215;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9704926;9696809;9651670;9570510;9528765;9491887;9488465;9334327;9315662;9311822;9256063;9201987;9184228;9121429;9054383;8934526;8910388;8876177;8849451;8800208;8676484;8637904;7853496;7638159;7579693;2190099;1559613;12775419;12089333;17168834;16838299;16289656;15175163;17643375;19615732;9852112;19240132;20133760;22939629;22990118;22318606;15282305;21139048;21890473;21906983;21987572;18562274;21729782;21963094;21988832;23000965;23073835;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22422068;22567366 5436 E9PIU7;E9PKH3;E9PS03;H0YEE4;P62487 ABBA01003243;AK312131;AMYH01003690;AP001160;AW016747;BC112162;BC112164;BG530809;CH471076;NM_002696;U20659;U52427 AAA86500;AAB96827;AAI12163;AAI12165;BAG35067;EAW74090;EAW74091;EAW74092;NP_002687;P62487 Hs.14839 1767695;1768407;1775953 A004H14;SGC31630;SHGC-30229 MGC138367;MGC138369;RPB19;RPB7;hRPB19;hsRPB7 DNA directed RNA polymerase II 19 kda polypeptide;DNA-directed RNA polymerase II 19 kDa polypeptide;DNA-directed RNA polymerase II subunit G;DNA-directed RNA polymerase II subunit RPB7;OTTHUMP00000236339;RNA polymerase II 19 kDa subunit;RNA polymerase II seventh subunit;RNA polymerase II subunit B7;polymerase (rna) ii (dna directed)polypeptide g APPROVED protein-coding ENSG00000168002 9194 15995 602013 REVIEWED 6480951 POLR2KP1 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 1 12 49987874 49988041 + 100874515 ABBA01031528;AC020612;AMYH01004445;NG_032528;NG_032901 pseudo 42650 INFERRED 1313437 POLR2E polymerase (RNA) II (DNA directed) polypeptide E, 25kDa This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. [provided by RefSeq, Jul 2008] 19 19 p13.3 1039163 1046336 - 1086578 1095391 - 1580863;6480464;6907045 7828586;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9790902;12676794;16169872;15635413;15489334;15057824;14702039;14615539;14569024;12887902;12642036;12634356;12477932;12391170;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11790298;11547919;11278533;11112772;11080476;10958691;10931842;10866664;10784442;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9488465;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;8876177;8849451;8800208;8676484;8637904;8034326;7853496;7638159;2753903;2190099;2071613;1559613;12775419;12089333;17168834;16838299;16289656;15175163;19214185;19240132;12393188;16055720;16169070;17643375;19237606;19450687;19615732;19773279;9852112;17207965;20211142;21310960;20133760;22863883;22939629;22990118;9054408;15282305;16239144;12737519;21900206;22102239;22118674;22178446;22252557;17620599;22318606;22623531;21139048;21890473;21906983;21628590;21145461;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22422068;22505724;22567366;15923622 5434 K7EJ87;K7EQN2;P19388 ABBA01002621;AC004151;AK122813;AK295975;AK312625;AMYH01009224;BC004441;BC034144;CH471139;D38251;DC414435;J04965;NM_002695;S42643 AAA62401;AAB19339;AAC03238;AAH04441;AAH34144;ADQ32847;BAA07406;BAG35511;BAG58751;EAW69547;EAW69548;EAW69549;EAW69550;NP_002686;P19388 Hs.24301 1676005;1734694;1848583;2191401;5015961 D15S1477;D19S692E;MARC_21329-21330:1023910044:1;RH25429;RH80177 RPABC1;RPB5;XAP4;hRPB25;hsRPB5 DNA directed RNA polymerase II 23 kda polypeptide;DNA-directed RNA polymerase II 23 kDa polypeptide;DNA-directed RNA polymerase II subunit E;DNA-directed RNA polymerases I, II, and III subunit RPABC1;RNA polymerases I, II, and III subunit ABC1;RPB5 homolog APPROVED protein-coding 9192 15946 180664 REVIEWED 6483760 POLR2KP2 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2 13 q14.2 48708092 48708689 - 100129174 ABBA01051003;AL158196;AMYH01005100;NG_027665 pseudo 42652 INFERRED 1319717 POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008] 19 19 q12 41296451 41298046 - 36604611 36606206 - 1580863;6480464;6907045 8265347;9405375;12226669;8946909;1939271;10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9334327;9315662;9311822;9184228;9121429;9054383;8934526;8910388;8876177;2449431;9409616;9512541;9790902;12676794;15489334;15057824;14569024;12887902;12642036;12634356;12477932;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10757782;10725406;8849451;8800208;8676484;8637904;8034326;7853496;7638159;2190099;1559613;12775419;12089333;17168834;16838299;16289656;15175163;19615732;9852112;19240132;22990118;22939629;22623531;21145461;17661632;18218627;18991615;19526283;20227660;20471948;21972559;22211660;22229121;22422068;22567366 5438 K7EK49;K7EKS1;K7ENX4;P36954 ABBA01018779;AD001527;AK312206;AMYH01009738;BC017112;BC017860;BC067794;NM_006233;Z23102 AAB51181;AAH17112;AAH67794;ABM84140;ABM87542;BAG35139;CAA80649;NP_006224;P36954 Hs.47062 5121352 RH78398 RPB9;hRPB14.5 DNA-directed RNA polymerase II 14.5 kDa polypeptide;DNA-directed RNA polymerase II subunit I;DNA-directed RNA polymerase II subunit RPB9;RNA polymerase II 14.5 kDa subunit;RNA polymerase II subunit B9;RPB14.5 APPROVED protein-coding ENSG00000105258 9196 15944 180662 REVIEWED 1345066 POLR2LP polymerase (RNA) II (DNA directed) polypeptide L pseudogene 6 p21.3 31108504 31108690 + 21912425 493825 ABBA01038068;AL662833;AL662844;AL662867;AL773544;AMYH01016209;BX927139;CR753819;CR759815;NG_032026 pseudo 31340 INFERRED 1314889 POLR2H polymerase (RNA) II (DNA directed) polypeptide H The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 q28 185563888 185569057 + 184081194 184086363 + 1580863;6480464;6907045 17353931;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9582279;9790902;12393749;12646563;12676794;16632472;15635413;15489334;14743216;14569024;12887902;12642036;12634356;12477932;12391170;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11790298;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;8876177;8849451;15175163;8800208;8676484;8637904;8524256;7853496;7651387;7638159;3754875;2190099;1559613;1403646;12775419;12089333;17168834;16838299;18247557;17643375;19237606;20237496;9852112;20864512;19214185;19240132;20133760;22863883;22939629;16196087;18029348;16239144;17283126;21139048;21890473;21906983;10777215;19471022;15146197;18562274;21729782;21963094;23349634;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22053931;22211660;22229121;22422068;22567366 5437 C9J413;C9JBJ6;C9JCU7;C9JJJ9;C9JLU1;C9JUA8;P52434 AA431357;ABBA01058445;ABBA01058446;AC078797;AI244238;AJ252079;AJ252080;AMYH01013718;BC000739;BG529732;BI603667;BM541682;BQ065952;BX283032;CH471052;CN368789;HY164762;HY178178;NM_001278698;NM_001278699;NM_001278700;NM_001278714;NM_001278715;NM_006232;U37689;Z49199 AAA91458;AAH00739;ABZ92526;CAA89060;CAB92189;EAW78246;EAW78247;NP_001265627;NP_001265628;NP_001265629;NP_001265643;NP_001265644;NP_006223;P52434 Hs.432574 1339634;1659907;1682531 D3S3578;RH91810;SHGC-35471 RPABC3;RPB17;RPB8;hsRPB8 DNA-directed RNA polymerase II subunit H;DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide;DNA-directed RNA polymerases I, II, and III subunit RPABC3;OTTHUMP00000210505;OTTHUMP00000210507;OTTHUMP00000210508;OTTHUMP00000210509;OTTHUMP00000210511;OTTHUMP00000210512;RNA polymerases I, II, and III subunit ABC3;RPB8 homolog;hRPB8 APPROVED protein-coding ENSG00000163882 9195 09082 606023 REVIEWED 1320957 POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008] 7 7 q22.1 101900552 101906386 - 102113547 102119381 - 1580863;6480464;6907045 12775419;12089333;17168834;16838299;16289656;12207009;15175163;15489334;14569024;12887902;12853948;12642036;12634356;12477932;12379213;12221105;12126615;12114499;12052871;12049628;12036295;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10783144;10757782;10725406;10704353;10698937;10617616;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9607318;9570510;9491887;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;8876177;8849451;8800208;8676484;8637904;7853496;7638159;2190099;15586814;1559613;8797801;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9790902;12676794;19237606;16341674;19240132;17643375;9852112;22990118;20133760;15282305;22022972;21139048;21906983;17661632;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22422068;22567366 5439 P52435;Q9H1A6 ABBA01011281;AC093668;AJ277928;AJ277929;AJ277930;AJ277932;AK290515;AMYH01017770;BC024165;BC040116;BC065711;BC139902;BC141830;BM545237;BM791979;L37127;NM_006234;X82385;X98433 AAD05361;AAH24165;AAH65711;AAI39903;AAI41831;ABM84077;ABM87445;BAF83204;CAA57785;CAA67075;CAC18368;NP_006225;P52435 Hs.654952 1651984;1654313;5014749 GDB:4585697;STS-H73947;STS-L37127 MGC71910;POLR2J1;RPB11;RPB11A;RPB11m;hRPB14 DNA-directed RNA polymerase II subunit J-1;DNA-directed RNA polymerase II subunit RPB11-a;OTTHUMP00000197252;RNA polymerase II 13.3 kDa subunit;RNA polymerase II subunit B11-a APPROVED protein-coding ENSG00000005075 9197 16038 604150 REVIEWED 2302533 POLR2J4 polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene 7 7 7 p13 43970361 43999268 - 43966415 43979470 - 43980494 44058748 - 15586814;12477932;12036295;11747469;9847074;16751776 84820 AACC02000040;ABBA01058198;ABBA01058199;ABBA01058200;ABBA01058201;ABBA01058202;ABBA01058203;ABBA01058204;ABBA01058205;ABBA01058206;ABBA01058207;ABBA01058208;ABBA01058209;ABBA01058210;ABBA01058211;AC004951;AC004985;AC017116;AK296066;AMYH01017207;BC006435;BC017250;BC017341;BC062722;BC105584;BX537878;BX538054;CH236951;DQ598991;NR_003655 BAG58825 Hs.657028 1647987;1689452;1696990;2132399;2158410;5014749;5015861;5020968;5037552;5112349;7185938 A006U11;D10S16;D7S3265;D8S2279;GDB:4585697;RH101967;RH103905;RH35997;RH80360;SHGC-56058 MGC13098;RPB11-phi pseudo ENSG00000214783 28195 PROVISIONAL 1606853 POLR2J3 polymerase (RNA) II (DNA directed) polypeptide J3 This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008] 7 7 q22.1 101965371 102000173 - 102178366 102213068 - 6907045 16913423;15987790;15586814;12477932;12036295;11747469;9847074;16344560;21890473;21906983 548644 D6RAG0;E2QRJ6;E7EP90;E7EWC6;F8WF84;H0Y980;Q9GZM3;Q9H1A7 AC004084;AC093668;AF468111;AJ277736;AJ277740;AJ277741;AJ277931;AMYH01017775;AMYH01017776;AMYH01017777;AMYH01017778;AMYH01017779;AMYH01017780;AMYH01017781;AMYH01017782;AMYH01017783;AMYH01017784;BC044209;BC113031;DA574442;DA580738;DB106772;NM_001097615 AAI56864;AAL87672;CAC18330;CAC18331;CAC18332;NP_001091084;Q9H1A7 Hs.610255;Hs.656696 5014749;5016944;5020948;5022200;5022450;5022578;5023327;5109281;5111975;5115298;5127386 D10S275;D1S1423;D1S1425;G35510;G43579;GDB:4585697;L17653;L18023;L18426;RH93196;SHGC-31100 MGC54043;POLR2J2;RPB11b1;RPB11b2 DNA-directed RNA polymerase II subunit 11;DNA-directed RNA polymerase II subunit J3;DNA-directed RNA polymerase II subunit RPB11-b2;OTTHUMP00000213584;OTTHUMP00000213586;OTTHUMP00000217200;OTTHUMP00000217203;RNA polymerase II subunit B11-b2 APPROVED protein-coding ENSG00000168255 33853 18684 REVIEWED 1352672 POLR2K polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008] 8 8 q22.2 101232015 101235406 + 101162839 101166230 + 1580863;6480464;6907045 10704353;10698937;10617616;10567706;10545121;10536359;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;1403646;7651387;9405375;12226669;8946909;1939271;2449431;9409616;9512541;9582279;9790902;12393749;12646563;12676794;17714821;15489334;15235609;14569024;12887902;12642036;12634356;12477932;12391170;12379213;12221105;12213660;12126615;12114499;12052871;12049628;11809800;11547919;11112772;11080476;10958691;10931842;10866664;10784442;10757782;10725406;8876177;8849451;8800208;8676484;8637904;7853496;7638159;2190099;1559613;12775419;12089333;17168834;16838299;15175163;19237606;19950226;21832049;22318606;21729782;9852112;18218627;18991615;19526283;20227660;21360054;21972559;22211660;22229121;22422068;22567366 5440 E5RGX2;P53803 ABBA01037563;AC025647;AJ252078;AMYH01018925;BC000806;BC018157;CH471060;CR456870;NM_005034;Z47727 AAH00806;AAH18157;ABM82085;ABM85266;CAA87656;CAB91873;CAG33151;EAW91798;EAW91799;NP_005025;P53803 Hs.351475 1673342;1679191;1751205;1786574;1858291;2133478;5093092 D8S1920;D8S1944;G32515;RH35979;RH67206;SHGC-105113;SHGC-132177 ABC10-alpha;RPABC4;RPB10alpha;RPB12;RPB7.0;hRPB7.0;hsRPB10a DNA directed RNA polymerases I, II, and III 7.0 kda polypeptide;DNA-directed RNA polymerase II subunit K;DNA-directed RNA polymerases I, II, and III subunit RPABC4;OTTHUMP00000227269;RNA polymerase II 7.0 kDa subunit;RNA polymerases I, II, and III subunit ABC4 APPROVED protein-coding ENSG00000147669 9198 05826 606033 REVIEWED 7241117 POLR3DP1 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1 10 76414714 76415887 + 100422384 ABBA01020278;AC012046;AMYH01002835;NG_025523;NG_030484 pseudo 45107 INFERRED 1351468 POLR3B polymerase (RNA) III (DNA directed) polypeptide B This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 12 12 12 q23.3 106417035 106569571 + 105275619 105428105 + 106751436 106903976 + 737633;1580863;6480464;6907045 12477932 17903297;16344560;15489334;14702039;12391170;1403646;17643375;19609254;19615732;20379614;19331820;22939629;19631370;22036171;22036172;21139048;21890473;21906983;22889924;22855961;21963094;23124897 55703 F8VRU2;Q7Z3R8;Q9NW08 ABBA01053165;ABBA01053166;AC009721;AC078992;AC080012;AK001161;AK001250;AK090636;AK092031;AK122713;AK291635;AMYH01004723;AMYH01004724;AY092084;BC017501;BC033542;BC033724;BC046238;BX537447;BX648712;CH471054;DA236776;DB094040;NG_031837;NM_001160708;NM_018082 AAH46238;AAM18214;BAA91527;BAA91581;BAF84324;BAG52201;BAG52470;BAG53685;CAD97689;EAW97780;EAW97781;NP_001154180;NP_060552;Q9NW08 Hs.610795;Hs.62696 1671908;1704146;1712428;1716615;1850157;2151907;2217792 D12S2107;G54249;POLR3B_3605;RH121563;RH44491;SHGC-79768;STS-R59312 C128;DKFZp686B10117;FLJ10388;HLD8;RPC2 DNA-directed RNA polymerase III 127.6 kDa polypeptide;DNA-directed RNA polymerase III subunit B;DNA-directed RNA polymerase III subunit RPC2;OTTHUMP00000242757;OTTHUMP00000242758;OTTHUMP00000242759;RNA polymerase III subunit C2 APPROVED protein-coding ENSG00000013503 30348 11447 614366;614381 REVIEWED 1351863 POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011] 10 10 10 q22-q23 73021499 73075893 - 79405900 79459265 - 79734907 79789298 - 1580863;6480464;6907045 9331371;12477932;12391170;12384934;11416169;1403646;19176527;16344560;17643375;19609254;19615732;20379614;19913121;20628086;16055720;20211142;22189167;22939629;21855841;18029348;17283126;22036171;21139048;21890473;21906983;22855961;18187620;22505724 11128 O14802;Q7Z755;R4GMX2 ABBA01020225;ABBA01020226;AF021351;AK024744;AK026023;AK300329;AL512628;AMYH01002850;AY091459;AY091460;AY091461;AY091462;BC014399;BC041089;CA449326;CH471083;DA103416;DA353439;NG_029648;NM_007055 AAB86536;AAH14399;AAH41089;AAM12029;AAM12030;AAM12031;AAM12032;BAH13260;EAW54617;NP_008986;O14802 Hs.436896 1643676;1714747;1754597;1857239;2163880;2217922 RH120039;RPC155_3541;SHGC-132894;SHGC-5548;STS-AA033874;STS-T70096 ADDH;HLD7;RPC1;RPC155;hRPC155 DNA-directed RNA polymerase III largest subunit;DNA-directed RNA polymerase III subunit A;DNA-directed RNA polymerase III subunit RPC1;OTTHUMP00000019920;RNA polymerase III 155 kDa subunit;RNA polymerase III subunit C1;RNA polymerase III subunit C160;RNA polymerase III subunit RPC155-D APPROVED protein-coding ENSG00000148606 30074 17879 607694;614258 REVIEWED 1349201 POLR2L polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008] 11 11 p15 829721 832529 - 839721 842529 - 6480464;6907045 1403646;12775419;12089333;17168834;16838299;15175163;10958691;10931842;10866664;10784442;10757782;10725406;10704353;10698937;10617616;10567706;10545121;10536359;10474687;10438593;10393184;10373521;10364292;10359081;10329125;10069959;10066804;9874563;9765201;9696809;9651670;9570510;9491887;9334327;9315662;9311822;9201987;9184228;9121429;9054383;8934526;8910388;8889548;8876177;8849451;8800208;8676484;8637904;7853496;7651387;7638159;2190099;11080476;1559613;8524256;9405375;12226669;8786124;8946909;1939271;2449431;9409616;9512541;9790902;12676794;16189514;15489334;15231747;14743216;14569024;12887902;12642036;12634356;12477932;12391170;12379213;12221105;12126615;12114499;12052871;12049628;11809800;11547919;11112772;9852112;19214185;20133760;22242598;21139048;21906983;18218627;18991615;19526283;20227660;20471948;21360054;21972559;22211660;22229121;22422068;22567366 5441 P62875 ABBA01015212;AK311997;AMYH01003296;AP006623;BC005903;BC018649;BQ435190;BU679804;CH471158;CR536565;NM_021128;U37690;Z47728;Z47729 AAA91459;AAH05903;AAH18649;ABM84072;ABM87439;ABM87561;BAG34935;CAA87657;CAA87658;CAG38802;EAX02408;NP_066951;P62875 Hs.441072 1774445;2136711;2144767 RH121967;RH41790;RH48177 RBP10;RPABC5;RPB10;RPB10beta;RPB7.6;hRPB7.6;hsRPB10b DNA-directed RNA polymerase III subunit L;DNA-directed RNA polymerases I, II, and III subunit RPABC5;OTTHUMP00000164439;RNA polymerase II 7.6 kDa subunit;RNA polymerases I, II, and III subunit ABC5;RPB10 homolog APPROVED protein-coding ENSG00000177700 9199 01155 601189 REVIEWED 731440 POLR2M polymerase (RNA) II (DNA directed) polypeptide M This gene encodes a subunit of RNA polymerase II, a protein complex that is responsible for synthesizing messenger RNA in eukaryotes. The encoded protein functions as a component of a specific form of RNA polymerase II termed Pol II(G). This protein may act as a negative regulator of activator-dependent transcription. Alternate splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein). [provided by RefSeq, Nov 2011] 15 15 q21.3 55786193 55797045 + 57998901 58009753 + 6480464 18669648;17361039;17317662;16769904;16572171;16381901;16189514;16112646;15489336;15489334;15233991;15175163;14702039;12477932;11474202;11256614;11076863;8125298;16169070;20412299;16055720;22990118;22244331;22244332;22850672 81488 E9PP13;H3BV00;Q6EEV4;Q8NCF3;Q96DI5 ABBA01038988;ABBA01038989;AC090651;AF086209;AF326773;AK074767;AK074955;AK128618;AK223571;AK308873;AL050091;AMYH01006677;AMYH01006678;AY339380;AY341344;AY353061;BC001510;BI833260;BQ072611;CH471082;CQ783776;NG_029676;NM_001018102;NM_015532;NR_027390 AAH01510;AAK92284;AAQ76830;AAQ76837;AAQ82540;ABM83961;ABM87275;BAC11193;BAC11313;BAC87533;BAD97291;CAB43263;CAF86856;CAL37599;EAW77525;EAW77527;NP_001018112;NP_056347;P0CAP2;Q6EEV4 Hs.437256 1675343;1677336;1681364;1687209;1687568;1768898;1858140;2146353 D4S3096;RH28685;RH39519;RH39550;RH76145;SHGC-67777;WI-13387;WI-20619 DKFZp586F1918;GCOM1;GRINL1A;Gdown;Gdown1 DNA-directed RNA polymerase II subunit M;DNA-directed RNA polymerase II subunit M, isoforms 4/5;GRINL1A downstream protein Gdown4;Glutamate receptor-like protein 1A;OTTHUMP00000163345;OTTHUMP00000163421;Protein GRINL1A;glutamate receptor, ionotropic;glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A;protein GRINL1A, isoforms 4/5 APPROVED protein-coding ENSG00000255529 14862 07575 606485 REVIEWED 1353647 POLR3GL polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 1 1 1 q21.1 119659588 119673739 - 144167593 144181744 - 145456236 145470387 - 737633;6480464;6907045 12477932 14702039;20154270;21906983 84265 A6NGX6;Q9BT43 ABBA01005744;ABBA01005745;AC243547;AK056984;AK092209;AL160282;AMYH01001373;BC004355;BC050418;CH471244;CS185581;DQ418461;NM_032305 AAH04355;ABD76394;BAB71332;CAJ42762;EAW71412;EAW71413;EAW71414;NP_115681;Q9BT43 Hs.591456 2134768;2161689 A003P17;D1S3345 FLJ34890;MGC3200;RPC32HOM;flj32422 DNA-directed RNA polymerase III subunit G-like;DNA-directed RNA polymerase III subunit RPC7-like;OTTHUMP00000015576;OTTHUMP00000039228;RNA polymerase III subunit C7-like;RPC32-like protein;alternative RNA polymerase III subunit 32 protein-coding ENSG00000121851 28466 14546 PROVISIONAL 1348674 POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 5 5 5 q14.3 85672528 85712495 + 89806437 89846125 + 89770681 89810369 + 1580863;6480464;6907045 9171375;16341674;15342556;12391170;1403646;17643375;19609254;19631370;22939629;21898682;21906983;21810746 10622 D6R921;D6R9U7;D6REQ0;D6RIT0;D6RJH6;O15318 ABBA01062154;ABBA01062155;AC027323;AC093510;AK025490;AK295434;AMYH01015476;AMYH01015477;AMYH01015478;BM788728;BP348952;CD657312;CH471084;NM_006467;U93868 AAB63676;AAI40283;AAI41650;BAG58376;EAW95980;EAW95981;EAW95982;NP_006458;O15318 Hs.282387 1336723;1679177;1722999 D5S2044;G60599;RH99035 RPC32;RPC7 DNA-directed RNA polymerase III 32 kDa polypeptide;DNA-directed RNA polymerase III subunit G;DNA-directed RNA polymerase III subunit RPC7;OTTHUMP00000222694;OTTHUMP00000222697;RNA polymerase III 32 kDa subunit;RNA polymerase III subunit C7 protein-coding ENSG00000113356 30075 17881 VALIDATED 5128992 POLR3KP1 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1 13 13 q21.2 40603759 40604495 - 59645238 59645974 - 100289667 ABBA01037003;AL512442;AMYH01005151;NG_023354 pseudo 39577 INFERRED 5129011 POLR3KP2 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2 17 17 17 q25.1 67741982 67742596 - 68670766 68671095 - 71158909 71159523 - 390811 ABBA01028872;AC097641;AMYH01008616;CH471099;NG_023353;NG_029371 EAW89110 pseudo 39578 VALIDATED 1323468 POLR3D polymerase (RNA) III (DNA directed) polypeptide D, 44kDa This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008] 8 8 8 q21 21064952 21071014 + 22158564 22164625 + 22102619 22108680 + 1580863;6480464;6907045 21252943;17081983;15489334;12477932;12391170;11279001;7947392;7799973;3683386;2714790;1403646;17643375;19631370;17207965;20211142;22189167;22939629;19953087;21693764;21900206;21906983;23505323;19471022 661 E5RHT4;E7EQ68;P05423 ABBA01005509;AC105206;AF346574;AK026588;AK295725;AMYH01018565;AY092086;BC000516;BC002603;BC003039;BC004484;BQ006609;CH471080;CR536509;CR541803;L15301;M17754;NM_001722 AAA51838;AAA72377;AAH02603;AAH04484;AAK15371;AAM18216;ADQ31797;BAG58566;CAG38747;CAG46602;EAW63689;EAW63690;EAW63691;EAW63692;NP_001713;P05423 Hs.148342 1722615;2151271;2218584;5114618 D8S1861;G60391;POLR3D_4179;RH11452 BN51T;RPC4;RPC53;TSBN51 BN51 (BHK21) temperature sensitivity complementing;DNA-directed RNA polymerase III 47 kDa polypeptide;DNA-directed RNA polymerase III subunit D;DNA-directed RNA polymerase III subunit RPC4;OTTHUMP00000224864;OTTHUMP00000224866;RNA polymerase III 47 kDa subunit;RNA polymerase III subunit C4;RPC53 homolog;temperature sensitive complementation, cell cycle specific, tsBN51 APPROVED protein-coding ENSG00000168495 1080 01755 REVIEWED 2306344 POLRMTP1 polymerase (RNA) mitochondrial (DNA directed) pseudogene 1 17 17 17 q23.2 59315356 59319072 - 57569050 57586591 - 60214284 60218000 - 284167 ABBA01035367;AC008158;AC053481;AC124802;AMYH01008543;AY672105;NG_011773 Hs.512026 1728511 G63693 POLRMTL APPROVED pseudo 28865 INFERRED 1323060 POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) 1 1 1 q21.1 119795949 119814224 - 144303962 144322241 - 145592605 145610884 - 1580863;6480464;6907045 9171375;15489334;12477932;12391170;12384934;10523658;10373544;8125298;1403646;17643375;19609254;20970119;21358628;21832049;22939629;18029348;21139048;21890473;21906983 10623 E9PHH9;Q9BUI4 ABBA01005741;AC239808;AJ238221;AJ238234;AK223413;AL160282;AMYH01001373;AY091463;BC002586;BC004424;CH471244;NM_006468;U93867 AAB63675;AAH02586;AAH04424;AAM12033;ADZ15329;BAD97133;CAB41919;EAW71434;EAW71435;EAW71436;NP_006459;Q9BUI4 Hs.591457 1847462 RH64684 RPC3;RPC62 DNA-directed III 62 kDa polypeptide;DNA-directed RNA polymerase III subunit C;DNA-directed RNA polymerase III subunit RPC3;OTTHUMP00000015591;OTTHUMP00000015592;RNA polymerase III 62 kDa subunit;RNA polymerase III subunit C3 protein-coding ENSG00000186141 30076 17880 PROVISIONAL 2290514 POM121B POM121 transmembrane nucleoporin B (pseudogene) 7 7 q11.23 72343793 72355158 - 72707495 72717232 + 17900573;12853948;19413330;9847074 100288540 A6NF01 AC073841;AC211485;AMYH01017531;NG_013116 A6NF01 2108873;2115167 POM121_9011;SHGC-56093 APPROVED pseudo 34004 INFERRED 1317654 POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD) 16 16 16 p12.2 21088628 21125238 + 22216242 22252847 + 22308696 22346424 + 1580863;6480464;6907045 15489334;14702039;12477932;12391170;10819331;10521666;8125298;1403646;19214185;17643375;19615732;18029348;16344560;19471022;21139048;21693764 55718 H3BM46;H3BMR4;H3BNJ0;H3BRY1;H3BS41;H3BSI5;H3BSM3;Q9NVU0 AA282721;AB040885;ABBA01003840;ABBA01003841;ABBA01003842;AC009034;AC092338;AK001371;AK023160;AK023231;AK026645;AK130661;AK222671;AK222789;AK293300;AK296813;AK300735;AL048627;AMYH01007348;AW205673;AY092085;BC000285;CH471249;DB047155;NM_001258033;NM_001258034;NM_001258035;NM_001258036;NM_018119;NR_047581 AAH00285;AAM18215;BAA91655;BAA95976;BAB14437;BAB14481;BAD96509;BAG56821;BAG59386;BAG62408;EAW50605;EAW50606;EAW50607;EAW50608;NP_001244962;NP_001244963;NP_001244964;NP_001244965;NP_060589;Q9NVU0 Hs.460298 1650188;1690800;2108379;2126961 D16S2974;POLR3E_8065;RH80971;STS-W72446 RPC5;SIN DNA-directed RNA polymerase III 80 kDa polypeptide;DNA-directed RNA polymerase III subunit RPC5;OTTHUMP00000120008;RNA polymerase III 80 kDa subunit RPC5;RNA polymerase III subunit C5 protein-coding ENSG00000058600 30347 15155 VALIDATED 2303890 POM121L10P POM121 transmembrane nucleoporin-like 10, pseudogene 22 22 22 q11.23 8447981 8482142 + 23382755 23385213 - 25041133 25055114 - 9074928;16751776 646074 AMYH01012670;AP000356;BX648116;DQ571048;NR_024593 Hs.531306 1784514;5113408 RH92295;SHGC-170333 DKFZp686I1532 APPROVED pseudo ENSG00000224124 35448 VALIDATED 2303438 POM121L11P POM121 transmembrane nucleoporin-like 11, pseudogene 22 22 q11.23 21985316 21987243 - 23652037 23664174 - 100129643 ABBA01055106;AMYH01012641;AP000343;NG_032575;U07000 APPROVED pseudo 35447 INFERRED 1315038 POLR3F polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. [provided by RefSeq, Jul 2008] 20 20 20 p11.23 18522122 18539370 + 18396033 18413287 + 18448033 18465287 + 1580863;6480464;6907045 9171375;16169070;10623476;15489334;14702039;12477932;12391170;11780052;10523658;8125298;1403646;19631370;17612402;22939629;19322201;21139048;21963094;21988832;23000965;23455924;18187620 10621 Q53FI8;Q9H1D9 ABBA01054047;AK096684;AK223298;AK290892;AK314838;AL121893;AMYH01011743;BC012588;BC016761;CH471133;NM_006466;U93869 AAB63677;AAH12588;AAH16761;ABM83621;ABM87168;BAD97018;BAF83581;EAX10239;EAX10240;EAX10241;NP_006457;Q9H1D9 Hs.472227 1712214;2217794;5112337 G54014;POLR3F_3526;RH103591 MGC13517;RPC39;RPC6 DNA-directed RNA polymerase III 39 kDa polypeptide;DNA-directed RNA polymerase III subunit F;DNA-directed RNA polymerase III subunit RPC6;DNA-directed RNA polymerases III 39 kDa polypeptide;OTTHUMP00000030359;RNA polymerase III 39 kDa subunit;RNA polymerase III C39 subunit;RNA polymerase III subunit C6 APPROVED protein-coding ENSG00000132664 15763 15156 REVIEWED 6480971 POM121L13P POM121 transmembrane nucleoporin-like 13, pseudogene 13 29352695 29353074 + 100874379 ABBA01035723;AL359741;AMYH01004994;NG_032518 pseudo 42635 INFERRED 1601803 POM121L12 POM121 transmembrane nucleoporin-like 12 7 7 7 p12.1 53164061 53165330 + 53070843 53072112 + 53103349 53104618 + 14702039 285877 Q8N7R1 AACC02000111;ABBA01011826;AC074397;AL833888;AMYH01017253;BI826445;BX104052;NM_182595 CAD38744;NP_872401;Q8N7R1 Hs.381970 OTTHUMP00000209038;POM121 membrane glycoprotein-like 12;POM121-like protein 12 APPROVED protein-coding ENSG00000221900 25369 13212 VALIDATED 6904127 POM121L14P POM121 transmembrane nucleoporin-like 14, pseudogene 6 p11.2 58259807 58271194 + 727805 ABBA01016209;AL021368;AMYH01016375 pseudo 44414 MODEL 1343533 POM121L2 POM121 transmembrane nucleoporin-like 2 6 6 6 p22.1 28882843 28886012 - 27384821 27388776 - 27276842 27280011 - 19571809;23894747 94026 C9J1I7;H7C418;Q96KW2 ABBA01037992;AL021808;AMYH01016188;NM_033482 NP_258443;Q96KW2 Hs.729955 1778654;2167295 D6S2335;D6S2336 POM121-L;POM121L OM121 membrane glycoprotein (rat homolog)-like 2;OTTHUMP00000016178;POM121 membrane glycoprotein (rat homolog)-like 2;POM121 membrane glycoprotein-like 2;POM121-like protein 2 APPROVED protein-coding ENSG00000158553 13973 VALIDATED 1353023 POM121L3P POM121 transmembrane nucleoporin-like 3, pseudogene 20 20 20 p11.21 24044596 24045751 + 23916072 23919493 + 23969929 23971084 + 651452 ABBA01048738;AL133466;AMYH01011783;NG_008187 1705210;2131262 SHGC-78074;Z94603 POM121L3;dJ831C21.3 APPROVED pseudo 16440 INFERRED 1350025 POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010] 16 16 16 p13.3 298898 305526 - 37000 43625 - 96979 103632 - 1580863;6480464;6907045 9869639;18029348;17499043;16728641;15616553;15489334;12477932;12391170;11157797;10079944;9054936;1403646;23446634 51728 Q9Y2Y1 ABBA01030394;ABBA01030395;AE006462;AF051316;AF060223;AF126531;AMYH01006981;BC011932;CH471112;DQ431198;NM_016310;Z69719 AAD31424;AAF18268;AAG43123;AAH11932;AAK61210;ABD95903;ABM87280;ABW03869;CAI95605;EAW85879;NP_057394;Q9Y2Y1 Hs.632223 1721991;1810120;1827318;1835944;1842796;1843920;1845784;2046694;2046696;2046698;2046700;2046702;2046704;2046706;2046708;2046710;2046712;2046714;2046716;2046718;2046720;2046722;2046724;2046726;2046728;2046730;2046732;2046734;2046736;2046738;2046740;2046742;2046744;2046746;2046748;2046750;2046752;2046754;2104330;2104332;2104334;2104336;5113288 ECD06052;ECD14774;ECD19133;ECD22605;ECD23171;ECD24111;G59881;REN94476;REN94477;REN94478;REN94479;REN94480;REN94481;REN94482;REN94483;REN94484;REN94485;REN94486;REN94487;REN94488;REN94489;REN94490;REN94491;REN94492;REN94493;REN94494;REN94495;REN94496;REN94497;REN94498;REN94499;REN94500;REN94501;REN94502;REN94503;REN94504;REN94505;REN94506;RH65374;stSG608825;stSG608826;stSG608828;stSG608830 C11;C11-RNP3;My010;RPC10;RPC11;RPC12.5;hRPC11 DNA-directed RNA polymerase III subunit K;DNA-directed RNA polymerase III subunit RPC10;DNA-directed RNA polymerases III 12.5 kDa polypeptide;OTTHUMP00000067145;RNA polymerase III 12.5 kDa subunit;RNA polymerase III subunit (hRPC11);RNA polymerase III subunit C10;RNA polymerase III subunit C11;RNA polymerase III subunit CII;hsC11p APPROVED protein-coding 14121 16187 606007 REVIEWED 1344633 POM121L6P POM121 transmembrane nucleoporin-like 6 pseudogene 6 6 p21.3 26946425 26973919 + 26838446 26865940 + 729392 AL133255;AMYH01016186;NG_008948 bA239L20.2 APPROVED pseudo 31343 INFERRED 2308874 POM121L7 POM121 transmembrane nucleoporin-like 7 22 22 q11.21 19810237 19812408 - 21467077 21482381 - 728418 B5MDG6 AP000550;NG_009026 APPROVED pseudo 35444 INFERRED 1312131 POLRMT polymerase (RNA) mitochondrial (DNA directed) This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008] 19 19 p13.3 568223 584568 - 617223 633568 - 1580863;6480464 17337445;18063578;19237606;16079853;15526033;15258572;15057824;12477932;12068295;9097968;8125298;12897151;18029348;19624753;20129056;20562859;20877624;21548588;20186120;21799907;21947009;22586326;21890473;21907836;21145461;23303773 5442 K7EKS3;K7EMH3;K7ESD1;O00411;Q4G0F4;R4GN79 AB209920;ABBA01002580;AC004449;AK225723;AK225865;AK302877;AK307525;AMYH01009194;AMYH01009195;BC024170;BC030829;BC070057;BC098387;CH471242;NG_023049;NM_005035;U75370 AAB58255;AAC06147;AAH98387;BAD93157;BAG64057;EAW61177;EAW61178;NP_005026;O00411 Hs.254113 5106927 RH47235 APOLMT;MTRNAP;MTRPOL;h-mtRPOL DNA-directed RNA polymerase, mitochondrial APPROVED protein-coding ENSG00000099821 9200 03468 601778 REVIEWED 1314191 POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) 22 22 22 q13.2 25728174 25746850 - 40251749 40270416 - 41921803 41940479 - 1580863;6480464;6907045 12391170;19246067;16344560;15489334;15461802;12477932;11258795;10591208;8889548;1403646;16712791;20843307;17643375;19615732;22939629;18029348 171568 E7ERZ2;F8WDS5;F8WDV1;Q6ZPA8;Q9Y535 AB051452;ABBA01055642;ABBA01055643;AK000365;AK026524;AK129663;AL023553;AMYH01012803;AY092087;BC017248;BC088367;BI754673;BM681267;BU928882;BX331353;BX367405;CB126821;CH471095;CR456459;DA238361;NM_001018050;NM_001018052;NM_138338 AAH17248;AAH88367;AAM18217;ACT64405;ACT64406;BAB33335;BAC85211;CAG30345;CAK54440;CAK54739;EAW60437;EAW60438;EAW60439;EAW60440;EAW60441;NP_001018060;NP_001018062;NP_612211;Q9Y535 Hs.712617 1648242;1690041;1733262;1770293;2122822;2191721;5091958 A007B26;D22S1253;D22S643;D22S998E;MARC_5597-5598:1044046898:1;RH11189;RH78562 KIAA1665;MGC111097;MGC29654;RPC22.9;RPC8 DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide;DNA-directed RNA polymerase III subunit H;DNA-directed RNA polymerase III subunit RPC8;OTTHUMP00000198835;OTTHUMP00000198837;OTTHUMP00000198839;RNA nucleotidyltransferase (DNA-directed);RNA polymerase III subunit 22.9 kDa subunit;RNA polymerase III subunit C8;RNA polymerase III subunit RPC8 protein-coding ENSG00000100413 30349 15157 VALIDATED 1605101 POM121 POM121 transmembrane nucleoporin This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013] 7 7 q11.23 71987872 72056774 + 72349936 72421979 + 6480464 17900573;17081983;16713569;16189514;15304359;14702039;12853948;12477932;12228227;11707516;11448991;10546895;9734811;8335683;7789967;9621063;20624389;20936779;20974814;9847074;16169070;17577209;21289085;19531213;22589738;21139048;21890473;21906983;15657394;16702234;18596237;18824568;19620630;19782045;21727197;21963094;22412018 9883 Q9Y2N3 AB014518;AB289621;ABBA01009243;ABBA01063963;ABBA01063964;ABBA01063965;ABBA01063966;ABBA01063967;ABBA01063968;ABBA01063969;ABBA01063970;ABBA01063971;ABBA01063972;ABBA01063973;ABBA01063974;AC005488;AC211469;AC211476;AK001215;AK022555;AK123814;AK292548;AL080109;AL713666;AMYH01017531;BC001518;BC008794;BE408761;BG831530;BI544820;BM994161;CD370328;CH471200;DC361358;NM_001257190;NM_172020 AAH01518;AAH08794;BAA31593;BAB14097;BAF80887;BAF85237;CAB45713;CAD28472;EAW69698;NP_001244119;NP_742017;Q96HA1 Hs.655217;Hs.737064 1665971;1754003;1790419;1790435;1790439;1855131;2108873;2115167;2149238;2155276;2187323;5019194;5020291;5091301;5096546;5115286;5122027;5125662;5125968;5126315;5126783;5127148;5127388;5493011;7184965 D7S2868;D7S3278;D7S3290;D7S3293;D7S3294;D7S534E;D7S789;GDB:1318609;GDB:1318657;GDB:4584988;GDB:4584996;GDB:4585009;GDB:4585127;GDB:4585193;GDB:4585440;POM121_9011;RH104432;RH10987;RH45339;SHGC-132050;SHGC-56093;STS-W72988;UniSTS:483688;WI-20883 DKFZp586G1822;DKFZp586P2220;FLJ41820;KIAA0618;MGC3792;P145;POM121A OTTHUMP00000160223;OTTHUMP00000160224;OTTHUMP00000211425;P145;POM121 membrane glycoprotein;nuclear envelope pore membrane protein POM 121;nuclear envelope pore membrane protein POM 121A;nuclear pore membrane protein 121 kDa;nucleoporin Nup121;pore membrane protein of 121 kDa APPROVED protein-coding ENSG00000196313 19702 11448 REVIEWED 2290521 POM121C POM121 transmembrane nucleoporin C 7 7 7 q11.2 67966286 67982273 - 74884001 74953504 - 75046065 75115568 - 6480464 17900573;14702039;12477932;12073013;11779826;9847074;17577209;20936779;21139048;21906983;21890473;21963094;21988832;23251661;10737800 100101267 A8CG34;A8MY32;C9JFL1 AB354586;ABBA01000790;ABBA01000791;AC006014;AC018720;AC211429;AI039602;AK125865;AK127026;AK293305;AK293781;AK311407;AL050158;AMYH01017552;BC013954;BC082993;BC130587;BC130589;BF370438;BU189720;BX649044;HY087675;NM_001099415 A8CG34;AAI30588;AAI30590;BAF80888;BAG56826;BAG57196;NP_001092885 Hs.712563 1665971;1754003;1790429;1790435;1790439;1855131;2108873;2115167;2115628;5017433;5020291;5022266;5091301;5096546;5115286;5122027;5125662;5125968;7184965 D7S2308;D7S2868;D7S3287;D7S3290;D7S3293;D7S3294;D7S534E;D7S789;GDB:4584988;GDB:4585009;GDB:4585127;GDB:4585261;POM121_9011;SHGC-132050;SHGC-56093;STS-T76997;STS-W72988;WI-20883 DKFZp586P2220;DKFZp779K1713;FLJ43877;FLJ45082;MGC163459;MGC163461;POM121-2 OTTHUMP00000209654;OTTHUMP00000209765;POM121 membrane glycoprotein C;POM121 membrane glycoprotein-like;nuclear envelope pore membrane protein POM 121C;nuclear pore membrane protein 121-2;pore membrane protein of 121 kDa C APPROVED protein-coding ENSG00000135213 34005 VALIDATED 1347281 POM121L1P POM121 transmembrane nucleoporin-like 1, pseudogene This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008] 22 22 q11.22 21304546 21316556 - 22974028 22987012 - 6480464 12477932;9391893;9074928 25812 Q3SYA9;Q5NV77 ABBA01055090;ABBA01055091;ABBA01055092;ABBA01055093;AK292412;AMYH01012639;D87002;NG_000002;NR_024591 BAA19999;BAA20000;BAF85101 Hs.367764 5111411 RH77813 FLJ76724;POM121L1 APPROVED pseudo 16439 PROVISIONAL 2291787 POM121L8P POM121 transmembrane nucleoporin-like 8 pseudogene 22 22 22 q11.2 24044019 24051295 + 19978584 19982019 + 21636714 21652019 + 6480464 17974005;15252450;12477932;11230166;16751776 29797 Q5BKY6 AC008103;AC008132;AK292222;AK302597;AK302811;AK308294;AK308336;AL117485;AMYH01012541;AMYH01012542;AMYH01012543;AMYH01012544;AMYH01012545;AP000552;BC034793;BC050331;BC050342;BC051721;BC068032;BC090873;DQ579582;DQ585143;DQ786190;NR_024583 ACE86860;ACE87548;BAF84911;BAG63849;BAG64011;Q5BKY6 Hs.318898;Hs.396963;Hs.735161 5015718;5020740;5106704;5111411;5113408;5113551;5117214;5124065 D5S2247E;GDB:451800;L17809;RH66855;RH77813;RH80432;RH92295;RH98694 DKFZp434K191;FLJ60978;FLJ61495;FLJ76361;FLJ98242;FLJ98284 APPROVED pseudo 35446 18779 PROVISIONAL 1352964 POM121L4P POM121 transmembrane nucleoporin-like 4 pseudogene 22 22 q11.2 19374219 19375702 + 21043843 21046009 + 15489334;12477932;21628590 266697 F5H5H7 ABBA01015447;AC007050;AMYH01012537;BC103891;NR_024592 Q3SYA9 Hs.558711 MGC119266 APPROVED pseudo 19326 PROVISIONAL 1601871 POM121L9P POM121 transmembrane nucleoporin-like 9, pseudogene This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 8447981 8461883 + 22977589 22991492 + 24647589 24661492 + 6480464 16381901;16344560;15489336;12975309;12477932;11230166;11076863;16751776 29774 ABBA01055133;ABBA01055134;AL040062;AL045566;AL117401;AL117484;AMYH01012663;AP000354;AY358961;BC063879;BC086868;BX107726;CH471095;DB072014;DQ596042;NR_003714 AAQ89320;CAB55902;CAL37766;CAL37978;EAW59653;EAW59654;EAW59655 Hs.534980 5022578;5111411;5113408 D1S1423;RH77813;RH92295 DKFZP434P211;UNQ2565 APPROVED pseudo ENSG00000128262 30080 16807 VALIDATED 1352097 POMC proopiomelanocortin This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 2 2 p23.3 25237226 25245063 - 25383722 25391559 - 1601429;1580863;1357926;1601430;1357925;5508806;5508803;5508804;5508805;5508808;5508809;5508807;6480464;6484113;7240710 15812563;11874690;15472174;15189116;21428190;2550304;9145424;21741932;21378282;21378032;21380811 22403619;9620771;19574343;19527514;19491387;19453261;19384953;19337797;19297547;19282378;19217079;19167016;19086053;19077438;19077144;19058789;19049975;19019335;18996102;18992263;18974267;18818748;18753988;18697863;18636124;18600473;18589403;18551113;18510797;18398047;18391951;18388149;18378043;18294637;18234565;18091355;18057378;17719137;17696832;17687619;17604950;17545153;17525122;17503481;17487313;17363457;17351784;17347308;17317724;17235324;17122358;17108680;17079660;17043312;16984256;16946714;16876316;16876134;16807684;16752831;16740999;16682835;16675966;16459315;16459314;16289330;16222047;16177130;16136012;16136011;16091310;16081629;16046867;16046320;15951321;15949633;15864412;15862552;15798195;15666849;15666826;15597110;15585384;15560758;15546902;15498881;15489334;15480745;15464199;15358786;15340161;15251468;15226502;15102092;15100697;15099286;15009732;15004414;14729605;14645373;14576363;14532850;14463577;12944398;12914931;12887283;12787137;12697721;12643442;12590613;12566947;12485424;12477932;12475731;12220743;12213892;12165561;12068494;12039064;12032760;11979399;11936276;11606131;11278902;11244459;11151766;11101306;11041375;10942578;10193875;9768693;9186529;8185570;7828531;7726641;7477400;6945581;6546764;6314261;6299668;6280146;6274691;6272808;6267033;6254047;6196780;4352834;4347148;4338630;4334191;3606677;2839146;2558057;2475499;2424570;1656407;1264228;195688;9851780;9058374;16610949;22112433;22544740;19913121;20602615;20610647;20628086;20634197;10233018;12591959;16892066;18240029;18292087;19119631;19170705;19363600;19426838;19452503;19560499;19561113;19723618;19743876;19747414;19790046;19797501;19835629;19874574;20097762;20191296;20200332;20403506;20424473;20468064;7905839;8208289;12036966;22612534;20170714;20734064;20176366;20482620;21037584;19770186;20810565;4368999;20935630;21277631;21832049;22398003;23028917;20639461;21193556;21536413;21332028;21367968;21521257;23739976;21622576;22078238;22643178;21723177;21980299;22492775;23038967;23426689;15835810;23449627;22792774;23224873;22328135;23402298;22933782;23118421 5443 E9PHK5;P01189;Q6FHC8 ABBA01045137;AC012457;AI341269;AMYH01010180;AW951218;BC065832;BT019918;CB988233;CH471053;CR541826;DQ884404;J00291;J00292;M25896;M28636;M38297;NG_008997;NM_000939;NM_001035256;S76492;V01510 AAA35799;AAA60139;AAA60140;AAB59621;AAC60644;AAH65832;AAV38721;AAY24354;ABI63371;CAA24754;CAG46625;EAX00729;EAX00730;NP_000930;NP_001030333;P01189 Hs.1897 1685349;1741503;1794052;1794054;1794464;2191739 GDB:181256;MARC_6319-6320:997299547:3;PMC310777P14;PMC310777P15;PMC314306P6;RH79890 ACTH;CLIP;LPH;MSH;NPP;POC OTTHUMP00000119991;OTTHUMP00000200964;OTTHUMP00000200965;OTTHUMP00000200966;adrenocorticotropic hormone;adrenocorticotropin;alpha-MSH;alpha-melanocyte-stimulating hormone;beta-LPH;beta-MSH;beta-endorphin;beta-melanocyte-stimulating hormone;corticotropin-like intermediary peptide;corticotropin-lipotropin;gamma-LPH;gamma-MSH;lipotropin beta;lipotropin gamma;melanotropin alpha;melanotropin beta;melanotropin gamma;met-enkephalin;opiomelanocortin prepropeptide;pro-ACTH-endorphin;pro-opiomelanocortin;proopiomelanocortin preproprotein 1643262;1643271;2289166;2289172;2289226;2289642;2289647;2289649 BW207_H;BW214_H;BW507_H;BW508_H;INSUL1_H;SLEP5_H;SLEP6_H;SLEP8_H APPROVED protein-coding ENSG00000115138 9201 01462 176830;601665;609734 REVIEWED 1350881 POMZP3 POM121 and ZP3 fusion This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] 7 7 q11.23 76077239 76094556 - 76239303 76256620 - 6480464 12477932;11329013;7789967;16702234;21832049;22990118;21906983 22932 A56844;C9J370;C9JER0;H7C4D5;Q6PJE2 AC004980;AMYH01017598;AMYH01017599;AMYH01017600;AMYH01017601;AMYH01017602;AMYH01017603;AMYH01017604;AMYH01017605;AMYH01017606;BC000487;BC017101;BG461659;BI084456;NM_012230;NM_152992;U10099 A56844;AAA85788;AAI48539;AAI53131;NP_036362;NP_694537;Q6PJE2 Hs.488877 2115628;2156163;2157980;2167953;5091112 D7S2308;D7S2875;STS-M60504;STS-U10099;ZP3A MGC8359;POM-ZP3;POM121 OTTHUMP00000161261;OTTHUMP00000208706;OTTHUMP00000208707;OTTHUMP00000208708;POM (POM121 homolog, rat) and ZP3 fusion;POM (POM121 rat homolog) and ZP3 fusion;POM-ZP3 fusion protein;POM121 and ZP3 fusion protein;POM121/ZP3 fusion protein APPROVED protein-coding ENSG00000146707 9203 15974 600587 REVIEWED 1601994 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2008] 1 1 p34.1 46426940 46436708 - 46654353 46685977 - 6480464;6907045;7240710 16857188;11742540;11709191;19299310;17906881;17881266;17878207;17869517;16710414;16344560;15489334;15466003;15236414;15207699;14702039;12975309;12788071;12588800;12477932;12467726;10737800;9915951;8125298;21361872;20816175;16712791;21684258;22419172;17370265;21727005;20301468;22554691;21988832 55624 F5H827;Q5VST3;Q68CV6;Q8WZA1 AB057356;ABBA01050844;ABBA01050845;AF250859;AK000284;AK022727;AK026430;AK055301;AK056186;AK225033;AK301923;AK302379;AK316399;AL672043;AMYH01000582;AW818474;AY358592;BC001471;BM999774;BQ448444;CB146374;CH471059;CR749700;DA187331;NG_009205;NM_001243766;NM_017739 AAF71270;AAH01471;AAQ88955;BAA91053;BAB14207;BAB71960;BAH13588;BAH13690;BAH14770;CAH18478;EAX06932;EAX06933;EAX06934;EAX06935;EAX06936;NP_001230695;NP_060209;Q8WZA1 Hs.525134 2124643;2186625;2189487;5014051;5016478;5020740;5022200;5037552 D8S2278;D8S2279;GDB:434012;L17809;L18426;MARC_7377-7378:992008389:1;RH12209;SHGC-74749 DKFZp761B182;FLJ20277;GNTI.2;GnT I.2;LGMD2O;MDDGA3;MDDGB3;MDDGC3;MEB;MGAT1.2;gnT-I.2 OTTHUMP00000008901;OTTHUMP00000008902;UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2;gnT I.2;protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 APPROVED protein-coding ENSG00000085998 19139 09493 253280;606822;613151;613157 REVIEWED 1348575 POMT1 protein-O-mannosyltransferase 1 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] 9 9 q34.1 133368110 133389014 + 134378289 134399193 + 731235;1580863;6480464;6907045;7240710 12369018 10366449;14699049;19299310;18647264;18513969;17878207;17869517;17079174;16698797;16344560;16303743;15792865;15637732;15522202;15489334;15037715;14702039;12925572;12757935;12477932;20634891;16887026;19519795;19639522;19880378;20816175;21782786;22549409;21906983;20301468;22505724 10585 B4DI80;B4DTW4;F5H3Z3;Q5JSZ6;Q5JT02;Q5JT03;Q5JT04;Q5JT05;Q5JT07;Q9NX32 AB209430;ABBA01012098;AF095136;AF095150;AK000475;AK074874;AK074888;AK094558;AK293529;AK295458;AK295561;AK299646;AK300393;AK300511;AK301486;AK303254;AK307876;AK315218;AL358781;AMYH01021779;BC022877;BC065268;BF984005;CH471090;CQ783718;DB154785;NG_008896;NM_001077365;NM_001077366;NM_001136113;NM_001136114;NM_007171 AAD41245;AAD41246;AAH22877;AAH65268;BAA91190;BAC11269;BAD92667;BAG52022;BAG57011;BAG58392;BAG58462;BAG61567;BAG62126;BAG62223;BAG63000;BAG64337;CAF86827;EAW87974;EAW87975;EAW87976;EAW87977;EAW87978;NP_001070833;NP_001070834;NP_001129585;NP_001129586;NP_009102;Q9Y6A1 Hs.522449 1707050;1753987;2120293;2143276;2145061;2175833;2175989;2187188;5022322 A004H35;A004N19;D11S2560;D9S1959;D9S2067;D9S64;NIB247;SHGC-132019;SHGC-81277 FLJ37239;LGMD2K;MDDGA1;MDDGB1;MDDGC1;RT OTTHUMP00000022405;OTTHUMP00000022406;OTTHUMP00000022407;dolichyl-phosphate-mannose--protein mannosyltransferase 1;dolichyl-phosphate-mannose-protein mannosyltransferase;protein O-mannosyl-transferase 1 APPROVED protein-coding ENSG00000130714 9202 06305 236670;607423;609308;613155 REVIEWED 1314101 POMP proteasome maturation protein The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010] 13 13 q12.3 28131251 28151059 + 29233141 29253094 + 6480464;6907045;7240710 21145461;17189198;17948026;16624403;16251969;15944226;15489334;15057823;14733938;12477932;12060596;11042152;10973495;10926487;10891394;18029348;20226437;20379614;16751776;22939629;22990118;22235297;18624398;21139048;21890473;21906983;21963094;17506986;20980621;22505724 51371 Q9Y244 ABBA01035724;AF077200;AF125097;AF262975;AF275807;AK312118;AL359454;AMYH01004994;BC003390;BC014334;CD369437;CH471075;EF535527;GU045555;GU045556;NG_027550;NM_015932 AAD26995;AAD39914;AAG23819;AAH03390;AAH14334;AAK58521;ABM85055;ABQ08566;ADE92939;ADE92940;BAG35054;EAX08434;EAX08435;NP_057016;Q9Y244 Hs.268742 1670492;1688404;1772260;2111564;2162631;2170298;2186850 D13S1522;RH44823;RH45726;RH79841;SHGC-32045;SHGC-64040;STS-R67915 C13orf12;HSPC014;PNAS-110;UMP1 2510048O06Rik;OTTHUMP00000018185;chromosome 13 open reading frame 12;hUMP1;proteasome maturation protein;proteassemblin;protein UMP1 homolog;voltage-gated K channel beta subunit 4.1;voltage-gated potassium channel beta subunit 4.1 APPROVED protein-coding ENSG00000132963 20330 12613 601952;613386 REVIEWED 1349272 PON1 paraoxonase 1 The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008] 7 7 q21.3 94764924 94791780 - 94927669 94953884 - 1580196;1580197;1580198;1580199;1580200;1580201;1580202;1580203;1580204;1580227;1580863;1642617;1642618;1642628;2313268;2313270;2313273;2307252;2313266;2313267;2313269;2313272;5509926;5509927;5509924;6480464;7240710 10729395;11935033;10610741;9862174;9763534;9215303;10978258;11917194;12621166;7749820;11788650;14602783;11889198;18358245;17949258;16627808;19328014;19207863;19005291;18290860;16949520;16319130;20182519;17664137 21446159;15853770;15823275;15797522;15774926;15767359;15721005;15715671;15704252;15681296;15654230;15642273;15629887;15580063;15576850;15538743;15488880;15488805;15454272;15450851;15368102;15359538;15346646;15345661;15331145;15284530;15270786;15256524;15251338;15241482;15236768;15232408;15214960;15166781;15163466;15140512;15136237;15135268;15124181;15097870;15090300;15087255;15076187;15060281;15050299;15039125;15023811;15016430;15015140;15008790;15001326;14996478;14985779;14967092;14767577;14760718;14695884;14686479;14669822;14642415;14642403;14636952;14624476;14579940;14527200;14511766;14500290;12963475;12957728;12955589;12928148;12889841;12871320;12853948;10479665;15772423;7638166;15342686;15721011;1657140;14718574;16682745;19651761;19646734;19634497;19615988;19602899;19597297;19587357;19579917;19575027;19540141;19527514;19479237;19454508;19454176;19434854;19421925;19420105;19401157;19379515;19376276;12849920;8812495;8770857;8675673;8661009;8393745;8393742;8382160;8292612;8098250;7916578;6324579;1718413;16185677;16175651;16142697;16141008;16140307;16128586;16120573;16117861;16112460;16112327;16105444;16094856;16080611;16078734;16077191;16052486;16035730;16030523;16027737;16023312;16008163;16002382;15995178;15993880;15993873;15982977;15974833;15969877;15952113;15939049;15928879;15925115;15924216;15922013;15900219;15899485;15877867;15865106;16213467;15864126;15853807;12824947;12805074;12790379;12783936;12777966;12756158;12740482;12706315;12697270;12690205;12679462;12645966;12640090;12625227;12618290;12618279;12615663;12601623;12588779;12575193;12566597;12563177;12545199;12536571;12531885;12480756;12480737;12477932;12474066;12466264;12454802;12442067;12417809;12355548;12241013;12210872;12204800;12204423;12196500;12151850;12139735;12082592;12082503;12080042;12074828;12074827;12052975;12052142;12009854;11993715;11971942;11940319;11918623;11918278;11888590;11888532;11880198;11860890;17412348;17412306;17373636;17334638;17309646;17304721;17299970;17296173;17286579;17204329;17183021;17173245;17136774;17125774;17118352;17106515;17090529;17078098;17065348;17001213;16996683;16985026;16949193;16942773;11851721;11810302;11805006;11768721;11752456;11740946;11726658;11714857;11692002;11676977;11668222;11596674;11557671;11555845;11512679;11511976;11511975;11476678;11472729;11428219;11409295;11395042;11388660;11375798;11341749;11335891;11328206;11257264;11239953;11231922;11151764;11104219;11096050;11073850;10669651;9714608;9661650;9261565;9011577;18347034;18322397;18281420;18274205;18260892;18241625;18236737;18219093;18164014;18154731;18096166;18083534;18034366;18029348;18000171;17977159;17975119;17936978;17936934;17936248;17920578;17900266;17854416;17716225;17702780;17662690;17651311;17646900;17624629;17624354;17623520;17617032;17617030;17592556;17587252;17585031;17568951;17560461;17558807;17556053;17554394;17539292;17536768;17532308;17532162;17469180;17463067;17460182;17449559;17437735;17436311;17436100;17435182;17428620;17416287;19371607;19371602;19359600;19357718;19330810;19321847;19301736;19292048;19288455;19285487;19280995;19269283;19263529;19261989;19254215;19233152;19233151;19226538;19223938;19219535;19205543;19204840;19155603;19152805;19151417;19135476;19131662;19126404;19104460;19090870;19082953;19071155;19056482;19048631;19023099;19022366;19019335;19018779;19018234;19015224;19013297;19003935;18996102;18977341;18976644;18971955;18952040;18951406;18936436;18930907;18927546;18923238;18845659;18830194;18823627;18818748;18796237;18728123;18720901;18716378;18708400;18695162;18678600;18665040;18652773;18635682;18634772;18626964;18624774;18618303;18615156;18601602;18582459;18569577;18550589;18544231;18513389;18505467;18500687;18497471;18474147;18469206;18465683;18443916;18433845;18430447;18430057;18427977;18423402;18413200;18385941;18361900;18355454;18349088;18347314;16940704;16926679;16919539;16915393;16914770;16912512;16882531;16880229;16863614;16835048;16824336;16822965;16808888;16807370;16799134;16794478;16792468;16790239;16780669;16776637;16775186;16767666;16766384;16729301;16683402;16681435;16674912;16629699;1673382;16600468;16565923;16551349;16534235;16521945;16515855;16510204;16495777;16474172;16472799;16411107;16407304;16387878;16357806;16335952;16327022;16323636;16308493;16269825;16260097;16239632;16614106;16229851;20981111;20961187;21187701;22188760;22703625;22847926;20850524;21044882;20470383;19913121;20485444;20486838;20503442;20529763;20536507;20538124;20577119;20602615;20615707;20628086;20634891;20639675;20646512;20658496;20664283;20673868;20679960;20691716;20723250;20734577;20820904;21223956;15098021;18830558;19103284;19121386;19201174;19439227;19443958;19474728;19538950;19556304;19578796;19628957;19654933;19672401;19710913;19729601;19736056;19750105;19770524;19778663;19818126;19826962;19846948;19850020;19863653;19878569;19880629;19891963;19902425;19902814;19904013;19907334;19915520;19930448;19939821;19948975;19956635;19967651;20019917;20026099;20042177;20045427;20050883;20056567;20078196;20078877;20097953;20098041;20099504;20142115;20185366;20198589;20209647;20227257;20227490;20334584;20348046;20362697;20375196;20379614;20381198;20390392;20403997;20406466;20407783;20423481;20424303;20430392;20452482;20453000;20458436;20458968;20488557;20532959;21167145;20625960;20453498;20551012;19945920;20510879;16712791;20582942;20133274;20845892;20156521;11238489;20802378;20819778;20833162;20839225;20855565;20856122;20883119;20921272;20947215;20980077;21031563;21039385;21044781;21078685;20100610;20338154;20692246;20709049;20872564;21111108;20140262;20812194;20497955;21059866;21170047;21268919;21302675;21108196;21737645;20807524;21123122;21118365;21146823;21308654;22029190;20934178;21291901;21287574;22971504;23056015;23204156;22247228;22428615;22616668;22723959;21360915;21722818;21229382;21258965;20221865;20221866;20221868;20221873;20221874;20221875;20221876;20221877;20221878;20221879;20221880;21127310;21803130;22631428;23602893;21629682;21231776;21539819;21545792;22520065;22378349;22896672;23068968;23346768;21783258;22952763;21104436;22890407;23406590;23418418;21655055;21355294;21911985;21960992;21982484;21573798;22168506;22333293;21864557;21873946;21427447;21438666;21407247;21530644;21561808;21806387;21829028;21521796;21757906;21820612;21918510;21527445;22115701;22222492;21904599;22976839;23137417;23182497;21465165;21737961;21748243;22067439;22367101;21620813;21692977;21755523;21887553;21986144;22123566;22751611;22982463;21505009;21907728;16236267;21450592;21557696;21718208;21723555;22133529;22521594;22555481;22322559;22098435;22320866;22615820;22568797;21672555;21681430;21765051;21960140;22030099;22074696;22086979;22193970;22206979;22285382;22301914;22750797;22750393;22813564;22975224;23441349;22822045;22854640;22659076;22796398;23007074;23167629;23356507;22835076;23103709;23160181;23590198;22401958;22934769;23054002;23053877;23281178;23159884;22868806;22884547;22704918;22776645;22846213;21162838;23426541;23487294;22959975;21997314;23171143;23709379 5444 F5H4W9;F8WF42;P27169 AACC02000013;ABBA01045778;AC004022;AF051133;AF402963;AF402965;AF539592;AK314027;AMYH01017699;AV652982;BC074719;BJ993711;CB122285;CH236949;CH471091;D84371;L48710;M63012;M63013;M63014;NG_008779;NM_000446;S56555;S64615;S64696;U53784;U55877;U55885;Z70723 AAA60142;AAA60143;AAA97957;AAB25717;AAB27714;AAB27899;AAB41835;AAB59538;AAC35293;AAD02576;AAH74719;AAL04502;AAL04504;AAM97935;BAA12327;BAG36737;CAA94728;EAL24133;EAW76771;NP_000437;P27169 Hs.370995 1676146;1694888;1742265;2149582;2175498 G44327;GDB:194296;RH12859;RH92541;STS-M63012 ESA;MVCD5;PON A-esterase 1;K-45;OTTHUMP00000204571;PON 1;aromatic esterase 1;arylesterase B-type;esterase A;paraoxonase B-type;serum aryldiakylphosphatase;serum aryldialkylphosphatase 1;serum paraoxonase/arylesterase 1 1643388;1643401 BMD1_H;BW321_H APPROVED protein-coding 9204 01351 168820;612633 REVIEWED 1313480 POMT2 protein-O-mannosyltransferase 2 The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008] 14 14 q24 76811052 76856970 - 77741299 77787225 - 1580863;6480464;6907045;7240710 19299310;18804929;18513969;18490429;17923109;17878207;17634419;16698797;16344560;15894594;15489334;14702039;14699049;12508121;12477932;12460945;11162531;8889548;16887026;19138766;19880378;20816175;16712791;21782786;20301468 29954 G3V4X9;H0YJA9;H0YJJ4;H0YJK9;H0YJQ7;Q9UKY4 AB209114;ABBA01030655;ABBA01030656;AC007375;AC007954;AF105020;AI927974;AK023804;AK025962;AL049462;AL353956;AL554279;AMYH01005881;AY090480;BC031651;BE797202;BM127609;BM724049;BX248027;CB148531;CH471061;CR627447;DA056935;DB456599;NG_008897;NM_013382 AAF14118;AAF62558;AAF63184;AAH31651;AAM12046;BAD92351;CAB89256;CAD62348;CAH10531;EAW81276;EAW81277;NP_037514;Q9UKY4 Hs.132989 1646627;1717299;1748313;2109687;2116462;2132910;2144736;2187381;2191191;5022450 A008S04;BCD3315;D10S275;D14S1202;G66716;MARC_16033-16034:1017411527:1;POMT2_9616;RH122064;RH185;RH45185 DKFZp686G10254;FLJ22309;LGMD2N;MDDGA2;MDDGB2;MDDGC2 OTTHUMP00000246458;dolichyl-phosphate-mannose--protein mannosyltransferase 2;protein O-mannosyl-transferase 2 APPROVED protein-coding ENSG00000009830 19743 09592 607439;613150;613156;613158 REVIEWED 1318482 POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 8 8 q22.1 99199244 99239816 + 99129521 99172069 + 1580863;6480464;6907045 15096576;8918471;16723659;15635413;15342556;15302935;21145461;12483731;12477932;11790298;11694598;11455963;10199568;9725903;9405234;7584044;17178784;20453000;21509594;21182205;22863883;22939629;21053045;21628590;18781797;20360068;22991464;22210626;19471022;21139048;21906983;22586326;19380743 10940 E5RK39;Q96F88;Q99575 ABBA01037534;ABBA01037535;AK000837;AK291434;AMYH01018917;AP003439;BC011529;BF511088;BP249298;BP280616;CH471060;D31765;NM_001145860;NM_001145861;NM_015029;X99302 AAH11529;ADZ15541;BAA06543;BAF84123;CAA67684;EAW91776;NP_001139332;NP_001139333;NP_055844;Q99575 Hs.252828 1335408;1663894;1670244;1682980;1766971;1774833;1779050;2134187 D8S1634;D8S1778;D8S1954;RH17435;RH25294;RH66205;SHGC-152514;STS-T86935 KIAA0061;MGC17365 OTTHUMP00000227073;OTTHUMP00000227074;hPOP1;processing of precursors 1;ribonucleases P/MRP protein subunit POP1 APPROVED protein-coding ENSG00000104356 30129 03923 602486 REVIEWED 1320575 PON2 paraoxonase 2 This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 7 7 q21.3 94872110 94902320 - 95034174 95064384 - 1580216;1580217;1580218;1580219;1580863;1642614;1642625;2313490;2313491;2313492;5509926;5509925;6480464 9443862;12454802;11918623;11803456;17406108;16776623;18776646;12778447;11206400;16319130;16822964 8661009;15772423;19527514;19479237;19401157;19371607;19263529;19254215;19166692;19152805;19151417;19131662;19091699;19082953;19019335;18977341;18977241;18818748;18759523;18720901;18695162;18691157;18635682;18569577;18513389;18436804;18427977;18413200;18361900;18347034;18258817;18063859;18020951;17940058;17916643;17854416;17664137;17601350;17557249;17436100;17428620;17412306;17404154;17309646;17299970;17137217;17096118;16926679;16891303;16822965;16767666;16614106;16551349;16411107;16185677;16164576;16141008;16135439;16117861;16080611;16078734;16030523;15776585;15607899;15544923;15489334;15359538;15345661;15256524;15232408;15166781;15039125;15001326;14996478;14984433;14741412;14636952;12955589;12939804;12853948;12588779;12561466;12477932;12442067;12433026;12151850;12082592;11768721;11692002;11676977;11579088;11512679;11257265;9847074;9714608;9329371;17353931;21145461;19913121;20485444;20503442;20529763;20536507;20565774;20628086;16537434;19497963;19540141;19546579;19575027;19578796;19587357;19654933;19818126;19840942;19878569;19930448;19939821;19948975;20099504;20430392;20458436;20582942;20839225;20980077;20530481;21146823;21223581;21118365;20934178;22860094;22939629;22744335;20381198;21368884;21127310;21561808;21757906;22354994;18781797;21139048;21620813;21906983;22016051;21672555;22183305;21765051;23225229;23053877;23455922;22964087;22174317;22190034;22268729;22534874;21988832;23487294 5445 G3V1K3;G3XAK4;J3QT77;Q86YL0 AACC02000013;AB102891;ABBA01045778;AC004012;AC005021;AF001601;AF001602;AF001603;AK291103;AK296029;AK296636;AK301313;AK308065;AK315209;AMYH01017699;AY210982;BC009728;BC040010;BC046160;BC093006;CB961097;CH236949;CH471091;L48513;NG_008725;NM_000305;NM_001018161 AAC27944;AAC27945;AAC27946;AAC41995;AAC62431;AAH09728;AAH40010;AAH46160;AAO18083;BAD89420;BAF83792;BAG37646;BAG58797;BAG59238;BAG62864;EAL24131;EAW76763;EAW76764;EAW76765;EAW76766;EAW76767;NP_000296;NP_001018171;Q15165 Hs.744912 1647955;1648877;1660153;1699552;1723093;1740201;1854025;2139916 D7S2091E;D7S2405;D7S2922;RH103375;RH121983;RH45355;RH45934;WI-12654 A-esterase 2;OTTHUMP00000204703;OTTHUMP00000204704;OTTHUMP00000204705;PON 2;aromatic esterase 2;paraoxonase nirs;serum aryldialkylphosphatase 2;serum paraoxonase/arylesterase 2 1643388 BW321_H APPROVED protein-coding ENSG00000105854 9205 03903 602447 REVIEWED 1344009 PON3 paraoxonase 3 This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008] 7 7 q21.3 94827120 94863623 - 94989184 95025687 - 1580863;5509926;5509927;5509925;5509924;6480464 16319130;20182519;16822964;17664137 8661009;15772423;19401157;19082953;18977341;18695162;18347034;17900266;17702780;17412306;17379834;16621408;16551349;16335952;16139510;16117861;16099434;16078734;15993332;15607899;15489334;15028279;14996478;14757195;14702039;14695884;14636952;12853948;12690205;12588779;12477932;12151850;11752456;11304470;11304457;19913121;20485444;20529763;20628086;19345057;19492856;19540141;19948975;20403997;20430392;20463093;20582942;20839225;20855565;20980077;17207965;20934178;21118365;21335322;21952037;22003209;22153698;22441669 5446 C9JZ99;F2Z2L3;F8WBV4;F8WD41;Q15166 AA860930;AACC02000013;ABBA01045778;AC004022;AC005021;AF320003;AF329433;AK096114;AK304282;AMYH01017699;AV655538;AY805220;BC020908;BC070374;CD014095;CD014097;CD014100;CD014102;CH236949;CH471091;HH961856;L48516;NG_008726;NM_000940 AAC41996;AAH70374;AAK07629;AAO15365;AAV50000;ADQ32083;BAG65142;CBX51401;EAL24132;EAW76768;NP_000931;Q15166 Hs.440967 1691796 G42256 OTTHUMP00000204648;OTTHUMP00000205061;OTTHUMP00000205065;paraoxanase-3;serum paraoxonase/lactonase 3 APPROVED protein-coding ENSG00000105852 9206 04098 602720 REVIEWED 1343900 PORC porphyria, acute; Chester type 7240710 2864531;8340112 5448 9209 305600 1323474 POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 12 12 12 q24.31 120651139 120653492 - 119501231 119503584 - 121016848 121019201 - 6480464;6907045 15096576;18164267;17081983;15489334;12477932;11413139;11042152;10931946;10352175;8125298;23314748;21139048 51367 Q969H6 AA918619;ABBA01020129;AC063943;AF070660;AF117232;AJ306296;AK223206;AK303144;AMYH01004803;BC012505;BI549018;BI668578;BU155588;CB995722;CH471054;NM_015918;NM_198202 AAD20966;AAF17213;AAH12505;BAD96926;BAG64248;CAC59822;EAW98205;EAW98206;EAW98207;EAW98208;NP_057002;NP_937845;Q969H6 Hs.279913 1797216;2149944;5127391 D12S2094;HSPC004;RH65847 HSPC004;RPP2;RPP20;hPop5 OTTHUMP00000239952;OTTHUMP00000239953;RNase MRP/RNase P protein-like;ribonuclease P/MRP protein subunit POP5 protein-coding ENSG00000167272 17689 15158 609992 VALIDATED 1314291 POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 19 19 19 q12 26794995 26805986 + 34789041 34798547 + 30097170 30108162 + 1580863;6480464;6907045 15489334;15351636;15342556;14580343;12477932;11455963;10024167;8889548;10352175;15096576;16723659;16155184;15635413;21139048;21906983 10775 A8MYC1;K7EK50;K7EQV2;K7ERD7;K7ESH8;O95707 ABBA01039542;AC010505;AF001176;AK303791;AK314790;AMYH01009673;BC004438;BC006098;BC013686;BP245167;BU727144;CR536569;CR936714;NM_006627;NR_027368;Y18863 AAD00893;AAH04438;AAH06098;ABM83983;ABM87306;BAG37321;BAG64748;CAB39167;CAG38806;NP_006618;O95707 Hs.412870 1701606;2141995;2150228 RH104441;STS-W74757;WI-11914 RPP29 hPOP4;ribonuclease P protein subunit p29 APPROVED protein-coding 30081 09358 606114 REVIEWED 1352577 POPDC2 popeye domain containing 2 This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008] 3 3 3 q13.33 117769457 117787954 - 120843596 120862094 - 119360908 119379404 - 1302855;1580863;6480464 10882522 12477932;15489334;8125298;17207965 64091 C9J3P7;H7C5T7;Q9HBU9 ABBA01061581;AC023494;AC073352;AF204173;AK226022;AK314819;AMYH01013419;BC026911;BC044929;NM_022135 AAG23406;AAH26911;AAH44929;ADQ33129;NP_071418;Q9HBU9 Hs.656031 1765773;1780206;1857348;2184695 SHGC-149207;SHGC-154625;SHGC-77234;SHGC-77235 POP2 OTTHUMP00000215338;OTTHUMP00000215339;OTTHUMP00000215550;OTTHUMP00000215551;popeye domain-containing protein 2;popeye protein 2 APPROVED protein-coding ENSG00000121577 17648 16160 605823 REVIEWED 1603854 POTEA POTE ankyrin domain family, member A 8 8 8 p11.1 42097375 42168102 + 43266742 43337485 + 43147585 43218328 + 15276201;12475935;16364570 340441 Q6S8J7 ABBA01021196;AC022616;AMYH01018694;AY462869;AY462870;NM_001002920;NM_001005365 AAI48509;AAI53077;AAS58863;AAS58864;NP_001002920;NP_001005365;Q6S8J7 Hs.531579 2120446 D8S372 A26A1;CT104.3;POTE-8;POTE8 ANKRD26-like family A member 1;ANKRD26-like family A, member 1;POTE ankyrin domain family member A;cancer/testis antigen family 104, member 3;prostate, ovary, testis-expressed protein on chromosome 8;protein expressed in prostate, ovary, testis, and placenta 8 protein-coding 33893 12330 608915 VALIDATED 1315010 POP7 processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) 7 7 7 q22 95034260 95035707 + 100141612 100143059 + 100303676 100305123 + 1580863;6480464;6907045 14715275;15096576;9630247;15635413;15489334;12690205;12477932;11158571;9618478;21145461;20215441;21832049;22863883;22939629;21139048;21890473;21906983;22505724 10248 C9JYM0;O75817 ABBA01013189;AC009488;AJ572668;AMYH01017741;BC001430;BI666854;CH236956;CH471091;NM_005837;U94316 AAC24113;AAH01430;EAL23821;EAW76495;NP_005828;O75817 Hs.416994 1655538;5091467 RH48437;STS-T99819 0610037N12Rik;RPP2;RPP20 OTTHUMP00000041353;OTTHUMP00000211373;POP7 (processing of precursor, S. cerevisiae) homolog;RNaseP protein p20;hPOP7;processing of precursor 7, ribonuclease P subunit;processing of precursor 7, ribonuclease p subunit (s. cerevisiae);ribonuclease P protein subunit p20;ribonucleases P/MRP protein subunit POP7 homolog protein-coding ENSG00000172336 19949 09357 606113 VALIDATED 1343916 POPDC3 popeye domain containing 3 This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008] 6 6 6 q21 106227913 106249989 - 105712470 105734563 - 105605775 105627858 - 1302855;6480464 10882522 18391951;15489334;14574404;12477932;8125298;22654436;19913121;20546612;20628086;19448622;17207965;20627872;21654844 64208 Q5T554;Q9HBV1 ABBA01014398;AF204171;AK225989;AK314101;AL356775;AMYH01016559;BC022323;BF244570;CA433204;CH471051;NM_022361;NR_024539 AAG23404;AAH22323;ADQ32144;BAG36795;EAW48427;EAW48428;NP_071756;Q9HBV1 Hs.458336 1674928;1688490;1694258;2159781;2219538 AL008740;POPDC3__5747;RH46697;RH93144;WI-15170 MGC22671;POP3;RP11-99L11.2;bA355M14.1 OTTHUMP00000016914;popeye domain-containing protein 3;popeye protein 3 APPROVED protein-coding 17649 16161 605824 REVIEWED 1313223 POSTN periostin, osteoblast specific factor 13 13 q13.3 37034779 37070874 - 38136719 38172981 - 1580863;6480464 21474826;12235007;8363580;19453261;19419450;19328625;19321256;19079190;19038863;18949745;18799196;18753297;18487994;18465194;18450759;18443362;18434370;18381746;18270434;18208976;18097555;18086302;17876898;17060937;17043657;17014703;16807673;16702213;16368877;16335952;16136586;15880581;15342556;15093540;15082792;15057823;14702039;12477932;11550156;22659570;22590609;20534149;20688362;19913121;20628086;20654574;20660732;21290209;17649947;18560459;19141349;19478074;19524268;19578758;19619531;19695571;19834535;19887451;19893021;19932262;20056178;20096135;20112500;20459570;20516120;19688273;20489157;20654714;20309942;21225237;22735632;22952986;22167593;21677839;21177844;21839814;22471299;22706927;21347516;21508107;21558869;21605971;21714934;21801849;21854746;22403621;22166650;23306834;22215184;21573804;22918213;23372176;22222231;22266908;23076534;23326517;23275141;22911870;23043074 10631 B1ALD8;B1ALD9;F5H628;Q15063 ABBA01021331;AI580215;AK021444;AK300261;AK304640;AL138679;AL646087;AMYH01005042;AMYH01005043;AY140646;AY918092;BC106709;BC106710;BG938993;BP335818;BQ575951;BY795054;CH471075;D13665;D13666;DC403736;EU262883;EU262884;EU262885;EU262886;GU354210;NM_001135934;NM_001135935;NM_001135936;NM_006475 AAI06710;AAI06711;AAN17733;AAY15840;ABY86630;ABY86631;ABY86632;ABY86633;ADA79517;BAA02836;BAA02837;BAG65419;BAH13247;EAX08590;EAX08591;EAX08592;EAX08593;EAX08594;NP_001129406;NP_001129407;NP_001129408;NP_006466;Q15063 Hs.136348;Hs.721018 1646337;1770181;1848360;2114088;2124375;2189537;2219540 D13S1465;D13S1689;OSF-2;POSTN__5748;RH70782;STS-H12747;UniSTS:234679 MGC119510;MGC119511;OSF-2;OSF2;PDLPOSTN;PN;RP11-412K4.1;periostin OTTHUMP00000018268;OTTHUMP00000018269;OTTHUMP00000018270;OTTHUMP00000018271;osteoblast specific factor 2 (fasciclin I-like);osteoblast-specific factor 2;periodontal ligament-specific periostin;periostin;periostin isoform thy2;periostin isoform thy4;periostin isoform thy6;periostin isoform thy8 protein-coding ENSG00000133110 16953 12295 608777 VALIDATED 1353593 POTED POTE ankyrin domain family, member D 21 21 q11.2 13904369 13935777 + 14982498 15013906 + 1580863;6480464 22234308;17996727;16364570;15276201;12475935;10830953 317754 Q86YR6 AP001465;NM_174981 AAI66701;NP_778146;Q86YR6 Hs.742365 A26B3;ANKRD21;CT104.1;POTE;POTE-21;POTE21 ANKRD26-like family B member 3;ANKRD26-like family B, member 3;Expressed in prostate, ovary, testis, and placenta;OTTHUMP00000082910;POTE ankyrin domain family member D;ankyrin repeat domain 21;ankyrin repeat domain-containing protein 21;cancer/testis antigen family 104, member 1;prostate, ovary, testis-expressed protein protein-coding ENSG00000166351 23822 09612 607549 VALIDATED 7245271 POTEB2 POTE ankyrin domain family, member B2 15 q11.2 21040701 21071662 - 20379614;23000965;12475935;12477932 100287399 H3BUK9;Q495V5 AC012414;AY465170;AY465173;BC066981;BC101005;BC101006;BC101007;BC127123;NM_001277303;NR_102390;XM_002343312;XM_003846379 AAH66981;AAI01006;AAI01007;AAI01008;AAI27124;AAS58869;AAS58872;H3BUK9;NP_001264232;XP_002343353;XP_003846427 Hs.722659;Hs.742365 POTE ankyrin domain family member B-like;POTE ankyrin domain family member B2 protein-coding ENSG00000230031 48327 VALIDATED 1603972 PORCN porcupine homolog (Drosophila) This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the Porc family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] X X p11.23 48252315 48264146 + 48367371 48379202 + 6480464;6907045;7240710 18325042;18193088;17546031;17546030;15489334;14702039;12477932;12034504;10866835;19277062;19309688;19586929;19681149;19863546;20198348;20301712;20854095;22735390;21472892;22509316 64840 B7ZAR3;C9JWI5;F2Z360;F8WEW7;Q9H237 ABBA01046009;ABBA01046010;AF196972;AF317058;AF317059;AF317060;AF317061;AK056340;AK057727;AK293347;AK314745;AK316378;AL538245;AMYH01022290;BC019080;BM543485;BM545893;CH471224;L08239;NG_009278;NM_022825;NM_203473;NM_203474;NM_203475 AAA74510;AAG39628;AAG39629;AAG39630;AAG39631;AAH19080;ABM83558;ABM86795;BAG37285;BAG51958;BAG56863;BAH14749;EAW50777;EAW50778;EAW50779;EAW50780;EAW50781;NP_073736;NP_982299;NP_982300;NP_982301;Q9H237 Hs.386453 1702714;2112850;2133049;2217798 DXS7465E;DXS9869E;PORCN_3674;RH17606 DHOF;FODH;MG61;MGC29687;PORC;PPN;por 2410004O13Rik;OTTHUMP00000025784;OTTHUMP00000025785;OTTHUMP00000216273;OTTHUMP00000216274;probable protein-cysteine N-palmitoyltransferase porcupine;protein-cysteine N-palmitoyltransferase porcupine APPROVED protein-coding ENSG00000102312 17652 06680 300651;305600 REVIEWED 1604415 POTEE POTE ankyrin domain family, member E 2 2 q21.1 131692394 131738886 + 131975924 132022416 + 6480464 18447647;17101985;16824795;16364570;15276201;21110914;19669888;17370265;21139048;21800051;21906983;22178446;22266860;21853274;22505724 445582 Q562T6;Q6S8J3 AC131180;AMYH01011089;AMYH01011090;AMYH01011091;AMYH01011092;AMYH01011093;AMYH01011094;AMYH01011095;AY462868;AY462871;AY462872;AY462873;AY970426;AY970462;HM358964;HM358975;NM_001083538 AAS58862;AAS58865;AAS58866;AAS58867;AAX82235;AAX82269;NP_001077007;Q6S8J3 Hs.686146 5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC23952P1 A26C1;A26C1A;CT104.2;POTE-2;POTE2;POTE2gamma ANKRD26-like family C member 1A;ANKRD26-like family C, member 1A;POTE ankyrin domain family member E;cancer/testis antigen family 104, member 2;prostate, ovary, testis-expressed protein on chromosome 2;protein expressed in prostate, ovary, testis, and placenta 2 protein-coding ENSG00000188219 33895 12329 608914 VALIDATED 68468 POR P450 (cytochrome) oxidoreductase This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008] 7 7 q11.2 75382356 75454109 + 75544420 75616173 + 1580863;1599697;1625563;2325883;4889128;4889811;4892309;6480464;7240710 15793702;15942020;18821018;17505056;11742006;17926129 2513880;10048323;19374516;19258400;19161969;18681889;18630181;18559916;21070833;18551037;18397975;18259105;18230729;18216718;17881660;17827787;17635179;17595315;11329262;11181502;11123926;11118675;11035953;10990198;10448278;9888582;9847074;9787138;9642268;9398194;9335117;8812989;8615895;8460938;7703255;2516426;1550342;17580970;17440066;17018578;16998238;16574318;16520232;16467261;16445284;16434211;16344560;15666840;15489334;15483095;15342556;15264278;15220035;14999778;14758361;12901793;12787027;12782579;12725870;12688675;12626517;12477932;11971899;11926825;11716457;11350900;11329263;19913121;20628086;16169070;19448135;19598235;19744540;19805543;19837910;19858215;19884324;20096935;20732302;20844025;20849814;20879989;21084761;20301592;20722625;20940534;20697309;21164260;21265736;22462747;21393444;21726529;21741353;21655236;21900384;21770725;21900206;21843508;22162478;22177374;15680923;19805454;21081644;21963094;21988832;23000965;21973081;21252943;18781797;21139048;21890473;22547083;9618440;21762695;22545110;22797925 5447 C9JDE2;C9JQ78;C9JU80;E7EMD0;E7EPN3;E7EVY7;E7EWU0;F5H468;H0Y4R2;P16435 AB051763;AB209874;ABBA01005894;ABBA01005895;ABBA01005896;ABBA01005897;AC005067;AC006330;AF258341;AK129978;AK290529;AK293194;AK296096;AK296639;AK304511;AK312543;AMYH01017557;AMYH01017558;BC034277;BG104767;BP244929;BX648619;CH471220;DA701694;DQ640499;NG_008930;NM_000941;S90469 AAB21814;AAD45961;AAG09798;AAH34277;ABF70199;BAB18572;BAD93111;BAF83218;BAG35442;BAG56734;BAG58850;BAG59240;BAG65317;CAH56151;EAW71777;EAW71778;EAW71779;EAW71780;NP_000932;P16435 Hs.354056 1655895;1725639;1740191;1790353;1798002;2126758;2137685;2137687 D7S1440;D9S1774;G62098;POR;POR_2999;RH11643;RH68122;SHGC-60143 CPR;CYPOR;DKFZp686G04235;FLJ26468;P450R NADPH--cytochrome P450 reductase;NADPH-dependent cytochrome P450 reductase;OTTHUMP00000160964;OTTHUMP00000185560;OTTHUMP00000210071 APPROVED protein-coding ENSG00000127948 9208 00485 124015;201750;613571 REVIEWED 5683647 POTEH-AS1 POTEH antisense RNA 1 q11.1 100852406 AP000529 5122171 D14S761 APPROVED miscrna 40058 1346397 POTEH POTE ankyrin domain family, member H 22 22 q11.1 14636332 14667937 - 16256332 16287937 - 6480464 15276201;12475935;10591208;21439273;21906983 23784 H0YG78;Q6S545 ABBA01137076;ABBA01148020;AMYH01012366;AMYH01012367;AMYH01012368;AMYH01012369;AMYH01012370;AMYH01012371;AMYH01012372;AP000529;AY466021;CR545463;NM_001136213 AAI48506;AAI48759;AAS58873;NP_001129685;Q6S545 Hs.581075 5016781 SHGC-67307 A26C3;ACTBL1;CT104.7;POTE22 ANKRD26-like family C member 3;ANKRD26-like family C, member 3;OTTHUMP00000220698;POTE ankyrin domain family member H;POTE-22;actin, beta-like 1;cancer/testis antigen family 104, member 7;prostate, ovary, testis-expressed protein on chromosome 22;protein expressed in prostate, ovary, testis, and placenta 22;protein expressed in prostate, ovary, testis, and placenta POTE14 like protein-coding 133 16403 608913 PROVISIONAL 2291751 POTEC POTE ankyrin domain family, member C 18 18 p11.21 14501737 14533599 - 14511737 14543599 - 6480464 12477932;12475935 388468 B2RU33;D7UEQ8 AK307658;AMYH01008856;AP006261;BC140940;BX649118;NM_001137671 AAI40941;B2RU33;NP_001131143 Hs.454726 A26B2;CT104.6;DKFZp686J0529;POTE-18;POTE18 ANKRD26-like family B member 2;ANKRD26-like family B, member 2;OTTHUMP00000222973;OTTHUMP00000222974;POTE ankyrin domain family member C;cancer/testis antigen family 104, member 6;prostate, ovary, testis-expressed protein on chromosome 18 protein-coding 33894 VALIDATED 1604173 POTEB POTE ankyrin domain family, member B 15 15 19305253 19336667 - 22051872 22082770 - 6480464 12477932;12475935;19718026;15489334;15276201;20379614;16572171 100996331 Q6S5H4 AC060814;AC183089;AY465170;AY465173;BC066981;BC101005;BC101006;BC101007;BC127123;NM_001277304;NM_207355;NR_102391;XM_003846376;XM_003959991;XM_003959992 AAH66981;AAI01006;AAI01007;AAI01008;AAI27124;AAS58869;AAS58872;NP_001264233;NP_997238;Q6S5H4;XP_003846424;XP_003960040;XP_003960041 Hs.722659 A26B1;CT104.5;MGC119371;MGC119373;POTE-15;POTE15 ANKRD26-like family B member 1;ANKRD26-like family B, member 1;POTE ankyrin domain family member B;POTE ankyrin domain family member B-like;cancer/testis antigen family 104, member 5;prostate, ovary, testis-expressed protein on chromosome 15;protein expressed in prostate, ovary, testis, and placenta 15 protein-coding ENSG00000233917 33734 608912 VALIDATED 2947058 POTEJ POTE ankyrin domain family, member J 2 2 q21.1 131085576 131132080 + 131369106 131415450 + 16364570;16824795;15815621;12475935;16397215;17101985;18447647;19463943;23084401;21906983;21853274 653781 P0CG39;Q562T5 AC140481;AMYH01011076;AMYH01011077;AY970427;HM358950;HM358962;HM358992;HM358994;NM_001277083;XM_003960309;XM_929706 AAX82236;NP_001264012;P0CG39;XP_003960358;XP_934799 Hs.558829 5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC23952P1 POTE2beta;POTE2beta' OTTHUMP00000204945;POTE ankyrin domain family member J;POTE ankyrin domain family, member J protein-coding ENSG00000222038 37094 VALIDATED 2289881 POTEF POTE ankyrin domain family, member F 2 2 q21.1 130547578 130594610 - 130831108 130886795 - 17101985;16824795;15815621;19669888;21139048;21906983;21800051;22178446;21853274;22505724;22944692 728378 A5A3E0;A6NC16;F8W967 ABBA01017941;ABBA01244812;AC018804;AC018865;AMYH01011041;AMYH01011042;AMYH01011043;AMYH01011044;AMYH01011045;AMYH01011046;AMYH01011047;AMYH01011048;AMYH01011049;AMYH01011050;AY970461;EF523384;HM358933;HM358938;HM358957;HM358969;JN038572;NM_001099771 A5A3E0;AAX82268;ABP57734;AER27512;NP_001093241 Hs.580547 1791786;1794960;5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC125678P1;PMC23952P1;PMC86032P2 A26C1B;ACTB;POTE2alpha;POTEACTIN ANKRD26-like family C member 1B;ANKRD26-like family C, member 1B;OTTHUMP00000204218;POTE ankyrin domain family member F;POTE-2 alpha-actin;beta actin;chimeric POTE-actin protein;prostate, ovary, testis expressed protein on chromosome 2 protein-coding ENSG00000196604 33905 VALIDATED 3077730 POTEI POTE ankyrin domain family, member I 2 2 q21.1 130936150 130983330 - 131220389 131266808 - 15815621;16824795;16364570;17342744;21906983;21139048;22505724;23000965 653269 P0CG38;Q562X7 AC013269;AMYH01011055;AMYH01011056;AMYH01011057;AMYH01011058;AMYH01011059;AMYH01011060;AMYH01011061;AMYH01011062;AMYH01011063;AMYH01011064;AMYH01011065;AY970385;AY970392;HM358987;NM_001277406;XM_003960308;XM_928585 AAX82194;AAX82201;NP_001264335;P0CG38;XP_003960357;XP_933678 Hs.558782 1794960;5019353;5019355;5023519 PMC109445P1;PMC109653P1;PMC23952P1;PMC86032P2 POTE2beta OTTHUMP00000204729;POTE ankyrin domain family member I;POTE ankyrin domain family, member I protein-coding 37093 INFERRED 1606361 POTEKP POTE ankyrin domain family, member K, pseudogene 2 2 2 q21.1 126073991 126109681 + 132065738 132101469 + 132349268 132385088 + 6480464 16824795;16364570;19322201;14630798;16341674;6457647;22939629;21800051;21906983;22178446;21080425 440915 Q562Q1;Q9BYX7 ABBA01028227;ABBA01028228;ABBA01028229;AC093838;AMYH01011103;AMYH01011104;AY014272;AY970463;AY970464;BM763453;HM358967;HM358970;HM358980;HM358985;HM358990;NR_033885;XR_158979;XR_159394;XR_171334 AAG50355;AAX82270;AAX82271;Q9BYX7 Hs.631267 1793334;2190487;5019353;5023519 ACTB-L;PMC109445P1;PMC209527P1;PMC23952P1 ACT;ACTBL3;FKSG30;POTE2delta;POTEK putative beta-actin-like protein 3 APPROVED pseudo ENSG00000204434 30182 18642 611266 PROVISIONAL 732450 POU1F1 POU class 1 homeobox 1 This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p11 87391473 87408427 - 87308783 87325737 - 1601432;1580863;6480464;7240710 1302000 16133148;16061841;16030140;15998782;15928241;15031321;14714741;14646405;12932747;12773133;12717343;12629113;12242337;12223489;12200420;12189206;12165656;11924936;11891224;11847467;11297581;11222742;10549299;10367888;9751061;9639565;9626142;9588494;9485179;9426156;9032233;8768831;8755540;8663380;8458380;8370519;8346040;8027225;7833912;7721104;7670563;7608249;7593413;3215510;2902927;2739723;1956794;1509263;1509262;1472057;1370379;1487156;9392392;9482665;18653712;18514160;18059085;17565274;17456792;17047377;17021049;16901973;16879162;16740974;16505001;16322098;16263824;16214911;20634197;19369455;19453261;19556346;19608642;19887646;20453000;20534763;19808898;20734064;20810604;20381582;16396960;21060149;19427323;19609847;20395397;22638072;22094313;9685346;21761366;18029348;12612071;21521297;21722153;21980073;22199144 5449 H0YK06;H0YNM5;P28069 ABBA01004629;AC130885;AMYH01013324;CH471110;D10216;D11333;D11334;D12892;L18781;NG_008225;NM_000306;NM_001122757;S73501;X62429;X72215;X77223;X77224 AAA60093;AAB31227;AAI52852;BAA01068;BAA02291;BAA34536;CAA44295;CAA51017;CAA54441;EAW68866;EAW68867;NP_000297;NP_001116229;P28069 Hs.591654 1788470;1788472;1788474;1788476;1788478;1788480;2136794;2141341;2217800 D3S3933;G67529;G67530;G67531;G67532;G67533;G67534;POU1F1__2984;RH17368 CPHD1;GHF-1;PIT1;POU1F1a;Pit-1 OTTHUMP00000213820;OTTHUMP00000213821;growth hormone factor 1;pituitary-specific positive transcription factor 1;pituitary-specific transcription factor 1 APPROVED protein-coding ENSG00000064835 9210 01409 173110;613038 REVIEWED 1344340 POT1 protection of telomeres 1 This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 7 7 q31.33 124249676 124357273 - 124462440 124570037 - 1580863;6480464 17632522;15657433;16880378;16166375;19424630;19285750;19262689;18955498;18922974;18676680;18519588;18425352;18178559;18066078;17848914;17237767;16344560;15973431;15792951;15620654;15558049;15489334;15231715;15060173;14744765;14715659;14702039;12853948;12477932;12391173;11349150;16030011;12768206;15632080;15181449;16043710;17237768;12781132;8889548;16189514;21183684;21399625;21461822;20937264;21048031;20811636;19170196;19625176;19648609;19651898;19692168;19734539;19766477;19773453;19812417;19854130;20008939;20056641;20094033;20549820;21098121;21209389;21684252;23317234;15383534;21778296;15316005;21890473;22336916;21044950;21855630;21988832;23502782 25913 A8MTK3;C9JPG9;H7C0Z6;H7C4C7;Q5MJ33;Q9NUX5 AACC02000001;ABBA01057709;ABBA01057710;ABBA01057711;AC004925;AC096665;AC110791;AK001230;AK001935;AK022580;AK026234;AK302263;AL050120;AMYH01017908;AY823520;AY823521;AY823522;AY823523;AY823524;BC002923;BM693856;CH236947;CH471070;DA412639;DA580630;DA707481;NG_029232;NM_001042594;NM_015450;NR_003102;NR_003103;NR_003104 AAD08852;AAH02923;AAW22613;AAW22614;AAW22615;AAW22616;AAW22617;ABM83691;ABM87009;BAA91568;BAA91988;BAB14110;BAB15404;BAH13661;CAB43281;EAW83615;EAW83616;EAW83617;NP_001036059;NP_056265;Q9NUX5 Hs.31968 1729299;1786382;1796534;1851576;2117216;2125104 G64162;GDB:1318142;POT1_1702;SHGC-171953;WI-16165;WI-22258 DKFZp586D211;HPOT1 OTTHUMP00000211675;OTTHUMP00000211676;POT1 protection of telomeres 1 homolog;POT1-like telomere end-binding protein;protection of telomeres 1 homolog;protection of telomeres protein 1 APPROVED protein-coding ENSG00000128513 17284 07572 606478 REVIEWED 730819 POU3F1 POU class 3 homeobox 1 1 1 p34.1 38282110 38285037 - 38509523 38512450 - 1580863;6480464 20453842;9242494;8451175;8662541;17959798;17195013;12557005;9742157;9457692;9105675;8663425;8567814;7909356;7791781;7720710;1976514;1975954;21448695;22589738;23192594 5453 Q03052;Q16423 ABBA01023248;AL139158;AMYH01000510;AMYH01000511;CH471059;L26494;NM_002699;S81257 AAA59965;AAB35991;AAI56295;EAX07298;NP_002690;Q03052 Hs.1837 2112400;2113690;5110852 D1S3677;POU3F1;RH17642 OCT6;OTF6;SCIP OTF-6;OTTHUMP00000000544;POU domain transcription factor SCIP;POU domain, class 3, transcription factor 1;octamer-binding protein 6;octamer-binding transcription factor 6 protein-coding ENSG00000185668 9214 03921 602479 VALIDATED 1605777 POTEG POTE ankyrin domain family, member G 14 14 q11.2 18623365 18654942 + 19553365 19584942 + 21906983;16824795;15276201;12477932;10737800 404785 Q6S5H5 AL512624;AMYH01005480;AMYH01005481;AMYH01005482;AMYH01005483;AMYH01005484;AMYH01005485;AMYH01005486;AMYH01005487;AY462874;AY465171;AY465172;BC127623;CV341500;NM_001005356;NR_027480 AAI27624;AAI56490;AAI72559;AAS58868;AAS58870;AAS58871;NP_001005356;Q6S5H5 Hs.711826 5016781 SHGC-67307 A26C2;ACTBL1;CT104.4;POTE-14;POTE14;POTE14alpha;POTE22 ANKRD26-like family C member 2;ANKRD26-like family C, member 2;OTTHUMP00000243527;OTTHUMP00000243528;POTE ankyrin domain family member G;cancer/testis antigen family 104, member 4;prostate, ovary, testis-expressed protein on chromosome 14;protein expressed in prostate, ovary, testis, and placenta 14 protein-coding ENSG00000222036 33896 12331 608916 VALIDATED 1349087 POU3F3 POU class 3 homeobox 3 POU3F3 is a member of the class III POU family of transcription factors (see POU3F1; MIM 602479) that are expressed in the central nervous system. The POU domain in these proteins is required for high affinity binding to octamer DNA sequences (summarized by Sumiyama et al., 1996 [PubMed 8703082]).[supplied by OMIM, Jul 2010] 2 2 2 q12.1 99673184 99674686 + 104838401 104839903 + 105471969 105473471 + 1580863;6480464 8703082;16582099;9632656;9457692;9105675;2739723;16169070;20467438;23006423 5455 P20264 AB001835;ABBA01073871;AC018730;AMYH01010832;CH471127;NM_006236 AAI68366;AAX88973;BAA19459;EAX01771;NP_006227;P20264 Hs.673855 1712583;5492641 D1Mit228.1;UniSTS:481875 BRN1;OTF8 OTF-8;OTTHUMP00000203027;POU domain, class 3, transcription factor 3;brain-1;brain-specific homeobox/POU domain protein 1;brn-1;oct-8;octamer-binding protein 8;octamer-binding transcription factor 8 APPROVED protein-coding 9216 03922 602480 PROVISIONAL 732459 POU3F4 POU class 3 homeobox 4 This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012] X X q21.1 82649941 82651431 + 82763269 82764775 + 1599155;1599156;1580863;6480464;7240710 7839145;9298820 15772651;12062767;9889200;9778298;9667433;9105675;7911044;7581392;22389666;21193157;19438930;19671658;19930154;20668882;20412083;21250553;16229168;21209840;21555964;22201925;22455811;23076972;8791518;9131020;20301607 5456 P49335 ABBA01041586;ABBA01041587;AK314967;AMYH01022652;CH471104;NG_009936;NM_000307;X82324;Z82170 AAI41562;AAI46552;BAG37468;CAA57767;EAW98577;NP_000298;P49335 Hs.2229 1729075;1796540;2131508;5492501;5493435 POU3F4__1217;Pou3f4;RH79170;UniSTS:481354;UniSTS:486237 BRAIN-4;BRN4;DFN3;DFNX2;OTF-9;OTF9 OTF-9;OTTHUMP00000023616;POU domain, class 3, transcription factor 4;brain-specific homeobox/POU domain protein 4;brn-4;oct-9;octamer-binding protein 9;octamer-binding transcription factor 9 APPROVED protein-coding ENSG00000196767 9217 02076 300039;304400 REVIEWED 3378638 POTEM POTE ankyrin domain family, member M 14 14 q11.2 19057551 19090272 - 19983954 20020272 - 6480464 12477932;12508121;16364570;16824795;21906983 641455 A6NI47;F8W858;G3V2R0 ABBA01123614;AL589182;AL929601;AMYH01005546;AMYH01005547;AMYH01005548;AMYH01005549;AMYH01005550;AMYH01005551;AMYH01005552;AMYH01005553;AMYH01005554;AY338952;AY970378;AY970386;AY970387;AY970388;AY970389;AY970390;AY970391;AY970428;AY970430;AY970431;AY970432;AY970446;AY970447;AY970454;AY970455;AY970456;AY970457;AY970458;AY970460;AY970479;AY970480;AY970502;BC063888;HM358945;HM358955;HM358968;HM358973;HM358979;HM358983;HM358995;NM_001145442 A6NI47;AAX82187;AAX82195;AAX82196;AAX82197;AAX82198;AAX82199;AAX82200;AAX82237;AAX82239;AAX82240;AAX82241;AAX82255;AAX82256;AAX82261;AAX82262;AAX82263;AAX82264;AAX82265;AAX82267;AAX82285;AAX82286;AAX82308;NP_001138914 Hs.654289 1728921;5019355;5023519 Actb-rs1;PMC109653P1;PMC23952P1 ACT;P704P;POTE14beta ANKRD26-like family C member ENSP00000349402;OTTHUMP00000244111;OTTHUMP00000244112;actin-like;prostate-specific P704P;putative POTE ankyrin domain family member M protein-coding ENSG00000187537 37096 PROVISIONAL 1323347 POU2AF1 POU class 2 associating factor 1 11 11 q23.1 110728190 110755626 - 111222980 111250157 - 1580863;6480464 16713566;7859290;18753146;17785371;16934875;15796964;15672409;15489334;14662861;14552839;14515270;12727885;12672812;12477932;12230975;11907094;11483518;11483517;11380252;11136971;10541551;9819426;9632764;9442392;9211847;8617501;8574789;7779176;7623806;20141429;19913121;20628086;20659471;18695675;9418884;20102401;20211142;21424034;21549311;21905497;23291589;23000144 5450 AAB34937;E9PKH4;Q16633 ABBA01039821;ABBA01039822;ABBA01039823;AK313573;AMYH01004029;AP002451;BC032549;CH471065;HI574300;NM_006235;X83504;Z47550;Z49194 AAB34937;AAH32549;ABM81795;ABW03292;BAG36346;CAA58494;CAA87630;CAA89053;CBX47639;EAW67137;NP_006226;Q16633 Hs.654525 1338308;1757901;1852182;2159670 D11S1986;RH47038;SHGC-146807;STS-Z49194 BOB1;OBF-1;OBF1;OCAB B-cell-specific coactivator OBF-1;BOB-1;OCA-B;OCT-binding factor 1;OTTHUMP00000233941;POU domain class 2-associating factor 1;POU domain, class 2, associating factor 1 protein-coding ENSG00000110777 9211 03126 601206 VALIDATED 1351293 POU2F3 POU class 2 homeobox 3 This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 11 11 q23.3 119616161 119695863 + 120107349 120190653 + 1580863;6480464 9242494;15077167;17195013;16607278;16005513;10473598;18479461;17989732;14702039;12624109;12477932;11429405;8441607;14645924;20379614;18029348;20888799;21074976;17562024;16147992;21906983 25833 E9PIN6;E9PQI0;H0YLC5;Q9UKI9 ABBA01039658;ABBA01039659;ABBA01039660;AF133895;AF162278;AF162715;AJ012214;AK097382;AK291993;AK302212;AMYH01004089;AP000679;AP001150;BC101649;BC143593;BC143594;BC143595;CH471065;CU451853;NG_030035;NM_001244682;NM_014352 AAD55245;AAF00199;AAI01650;ABZ92227;BAF84682;BAG63569;CAB45383;EAW67503;NP_001231611;NP_055167;Q9UKI9 Hs.227115 1765109;1782390;1796536;2120508;2121697;5015961;5022322;5037552 AFMB031WC9;D11S2560;D15S1477;D8S2279;POU2F3__1211;RH69888;SHGC-148631;SHGC-154036 Epoc-1;FLJ40063;MGC126698;OCT11;OTF-11;PLA-1;PLA1;Skn-1a OTF-11;OTTHUMP00000231987;OTTHUMP00000231988;POU domain transcription factor OCT11a;POU domain, class 2, transcription factor 3;POU transcription factor;oct-11;octamer-binding protein 11;octamer-binding transcription factor 11;transcription factor PLA-1;transcription factor Skn-1 APPROVED protein-coding ENSG00000137709 19864 09582 607394 REVIEWED 1347223 POU2F2 POU class 2 homeobox 2 The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 q13.2 47284490 47328470 - 42590262 42636625 - 1580863;6480464 11841448;11583619;11279128;10490647;10480874;9870616;9819426;9584182;9368058;9078256;8902060;8202368;8156594;7914745;7888080;7720710;3265124;2904654;2904653;2901913;2328728;10383413;12887926;12477932;12144930;9242494;9442393;19270158;18695675;17442950;16186795;15831936;15796964;15489334;14707079;14662861;12663137;21424034;20141429;19913121;20628086;19271143;19536068;19625999;20363215;9823775;22158496;21906983 5452 B5ME60;E9PK32;E9PNC9;E9PR37;H0YKT2;H0YLD5;H0YLL6;H0YMY4;H0YNG1;H0YNL2;H0YNW1;M0R1I6;P09086 AA832036;ABBA01040836;ABBA01040837;ABBA01040838;AC010247;AC022515;AC024076;AMYH01009824;BC006101;BF062323;BT007438;CB995118;CH471126;M22596;M36542;M36653;M36718;M36772;NG_030365;NM_001207025;NM_001207026;NM_001247994;NM_002698;X13809;X13810;X53468;X53469;X81030 AAA36389;AAA36390;AAA36392;AAA36732;AAA59978;AAA64232;AAH06101;AAP36106;CAA32039;CAA32040;CAA37562;CAA37563;CAA37565;CAA56933;EAW57098;EAW57099;EAW57100;EAW57101;EAW57102;EAW57103;EAW57104;EAW57105;EAW57106;EAW57107;NP_001193954;NP_001193955;NP_001234923;NP_002689;P09086 Hs.147381 1790357;1798004;1852831;2120730;2129023;2168331;2176218;5093564 A007A14;A009Q47;G10665;G32794;POU2F2;POU2F2__1992;WI-11723;WI-12372 OCT2;OTF2;Oct-2 OTF-2;OTTHUMP00000231645;OTTHUMP00000231646;OTTHUMP00000231647;OTTHUMP00000231648;OTTHUMP00000231650;POU domain, class 2, transcription factor 2;homeobox protein;lymphoid-restricted immunoglobulin octamer-binding protein NF-A2;octamer-binding protein 2;octamer-binding transcription factor 2 APPROVED protein-coding ENSG00000028277 9213 01251 164176 REVIEWED 1346950 POU5F1B POU class 5 homeobox 1B This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009] 8 8 q24.21 128497294 128498373 + 128427857 128429455 + 6480464 1408763;18949397;18946985;16229821;16201836;11780052;17401363;17401366;17618283;17618284;18372901;19562729;20017164;20062064;20158306;22041458;23064289 5462 D5K9T1;Q06416 ABBA01037942;AC016883;AF268615;AF268618;AMYH01019014;DQ120688;DQ486513;FM177969;FM177970;FM177971;FM177972;FM177973;FM177974;FM177975;FM177976;FM177977;FM177978;FM177979;FM177980;FM177981;FM177982;GU480835;GU480840;GU480841;GU480842;GU480845;GU480864;GU480868;GU480878;GU480880;GU480883;GU480886;GU480889;GU480896;GU480902;GU480905;GU480906;GU480908;GU480911;GU480912;GU480913;HQ122710;HQ122711;HQ122712;HQ122713;HQ122714;HQ122716;HQ122717;HQ122718;HQ122719;HQ122721;HQ122749;HQ122750;HQ122751;HQ122752;HQ122781;HQ122782;HQ122783;HQ122784;HQ122785;HQ122786;HQ122787;HQ122788;HQ122789;HQ122790;HQ122816;HQ122817;HQ122818;HQ122819;HQ122820;HQ122821;HQ122822;HQ122823;HQ122824;HQ122825;HQ122826;HQ122827;HQ122841;HQ122842;HQ122843;HQ122844;HQ122845;HQ122846;HQ122848;HQ122849;HQ122851;HQ122852;HQ122853;HQ122854;HQ122855;HQ122856;HQ122857;HQ122864;HQ122865;HQ122866;HQ122867;HQ122868;HQ122869;HQ122870;HQ122871;HQ122874;HQ122876;HQ122877;HQ122878;HQ122879;HQ122880;HQ122881;HQ122882;HQ122883;HQ122884;HQ122885;HQ122886;HQ122887;HQ122891;HQ122892;HQ122893;HQ122895;HQ122898;HQ122900;HQ122902;HQ122903;NM_001159542;Z11901 AAG53083;AAG53085;ABB92462;ABF29403;ADE48561;ADE48566;ADE48567;ADE48568;ADE48570;ADE48580;ADE48583;ADE48591;ADE48593;ADE48596;ADE48597;ADE48599;ADE48604;ADE48606;ADE48609;ADE48610;ADE48612;ADE48614;ADE48615;ADE48616;ADW77351;ADW77352;ADW77353;ADW77354;ADW77355;ADW77356;ADW77357;ADW77358;ADW77359;ADW77360;ADW77385;ADW77386;ADW77387;ADW77388;ADW77415;ADW77416;ADW77417;ADW77418;ADW77419;ADW77420;ADW77421;ADW77422;ADW77423;ADW77424;ADW77444;ADW77445;ADW77446;ADW77447;ADW77448;ADW77449;ADW77450;ADW77451;ADW77452;ADW77453;ADW77454;ADW77455;ADW77467;ADW77468;ADW77469;ADW77470;ADW77471;ADW77472;ADW77473;ADW77474;ADW77475;ADW77476;ADW77477;ADW77478;ADW77479;ADW77480;ADW77481;ADW77487;ADW77488;ADW77489;ADW77490;ADW77491;ADW77492;ADW77493;ADW77494;ADW77495;ADW77496;ADW77497;ADW77498;ADW77499;ADW77500;ADW77501;ADW77502;ADW77503;ADW77504;ADW77505;ADW77506;ADW77507;ADW77511;ADW77512;ADW77513;ADW77514;ADW77515;ADW77516;ADW77517;ADW77518;CAA77953;NP_001153014;Q06416 Hs.450254 1657819 RH77966 OCT4-pg1;OTF3C;OTF3P1;POU5F1P1;POU5F1P4;POU5FLC20;POU5FLC8 POU 5 domain protein;POU class 5 homeobox 1 pseudogene 1;POU domain transcription factor OCT4-pg1;POU domain transcription factor Oct-4;POU domain, class 5, transcription factor 1 pseudogene 1;octamer binding protein 3_like sequence;octamer-binding protein 3-like;octamer-binding transcription factor 3-like;putative POU domain, class 5, transcription factor 1B APPROVED protein-coding ENSG00000212993 9223 VALIDATED 1625831 POU5F1P2 POU class 5 homeobox 1 pseudogene 2 8 8 8 q22.3 99820027 99820717 + 103701961 103702651 + 103633722 103634559 - 100129512 ABBA01037619;AMYH01018937;AP002851;NG_022400 1856975;2142980 A006S39;SGC30492 pseudo ENSG00000253382 33309 INFERRED 1343632 POU5F1P3 POU class 5 homeobox 1 pseudogene 3 12 12 12 p13.31 9863427 9864510 - 8177377 8178736 - 8286365 8287448 - 6480464 17245123;16229821;8500351;7908264 642559 ABBA01012236;AC092111;AF268617;AMYH01004224;GU480832;GU480837;GU480838;GU480843;GU480846;GU480847;GU480876;GU480877;GU480887;GU480888;GU480891;GU480892;GU480893;GU480897;GU480901;GU480903;GU480907;GU480909;GU480915;HQ122722;HQ122723;HQ122724;HQ122725;HQ122726;HQ122727;HQ122728;HQ122729;HQ122730;HQ122753;HQ122754;HQ122755;HQ122791;HQ122792;HQ122793;HQ122794;HQ122795;HQ122796;HQ122797;HQ122828;HQ122829;HQ122831;NR_036440;Z21964 AAG53084;ADE48563;ADE48564;ADE48569;ADE48571;ADE48572;ADE48590;ADE48598;ADE48600;ADE48601;ADE48605;ADE48607;ADE48611;ADE48613;ADE48617;ADW77361;ADW77362;ADW77363;ADW77364;ADW77365;ADW77366;ADW77367;ADW77368;ADW77369;ADW77389;ADW77390;ADW77391;ADW77425;ADW77426;ADW77427;ADW77428;ADW77429;ADW77430;ADW77431;ADW77456;ADW77457;ADW77459;CAA79975 Hs.646545 OTF3L;POU5F1L;POU5FLC12 pou domain, class 5, transcription factor 1-like pseudo 9222 VALIDATED 1625853 POU5F1P4 POU class 5 homeobox 1 pseudogene 4 1 1 1 q22 128476134 128477216 + 153669555 153670919 + 155402971 155404053 + 6480464 16229821;7908264;17280643 645682 ABBA01016703;AF268613;AL139410;AMYH01001429;DQ851566;FM178001;FM178002;FM178003;FM178004;FM178005;FM178006;FM178007;FM178008;FM178009;FM178010;FM178011;FM178012;GU480814;GU480831;GU480833;GU480834;GU480836;GU480839;GU480848;GU480852;GU480854;GU480857;GU480858;GU480859;GU480862;GU480863;GU480866;GU480867;GU480869;GU480870;GU480871;GU480872;GU480873;GU480875;GU480879;GU480881;GU480882;GU480894;GU480895;GU480904;HQ122834;HQ122836;HQ122837;HQ122839;HQ122840;HQ122858;HQ122859;HQ122860;HQ122861;HQ122862;HQ122914;NR_034180;Z21963 AAG53082;ADE48560;ADE48562;ADE48565;ADE48573;ADE48574;ADE48575;ADE48576;ADE48577;ADE48578;ADE48579;ADE48581;ADE48582;ADE48584;ADE48585;ADE48586;ADE48587;ADE48588;ADE48589;ADE48592;ADE48594;ADE48595;ADE48602;ADE48603;ADE48608;ADW77462;ADW77463;ADW77464;ADW77465;ADW77466;ADW77482;ADW77483;ADW77484;ADW77485;ADW77486;ADW77526;CAA79974 Hs.632482 POU5FLC1 pseudo ENSG00000237872 33310 VALIDATED 1625830 POU5F1P5 POU class 5 homeobox 1 pseudogene 5 10 10 10 q21.3 63044571 63045507 - 69439717 69440627 - 69769704 69770640 - 100009667 ABBA01019554;AL356741;AMYH01002797;NG_006104 pseudo 33311 INFERRED 1346191 POU4F2 POU class 4 homeobox 2 The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011] 4 4 q31.2 147779495 147783073 + 147560045 147563623 + 1580863;6480464 7623109;8995448;18367606;17637757;17490655;16368877;16344560;16152597;15968082;15833836;14970234;14726699;12724837;11526481;9448000;8332509;8234287;7691107;12477932;21279488;23056278 5458 Q12837 ABBA01070050;AC093887;AK314982;AMYH01014600;BC136344;BC136345;BY796838;CH471056;DB082745;EU439706;L20434;NM_004575;U06233;X71488 AAA16509;AAA36393;AAI36345;AAI36346;ACA49233;BAG37481;CAA50589;EAX05025;NP_004566;Q12837 Hs.266 1663407;1670133;1796544;2115649 D4S3267;D4S3346;G34464;POU4F2__1221 BRN3.2;BRN3B;Brn-3b Brn3b POU domain transcription factor;OTTHUMP00000221146;POU domain class 4 transcription factor 2;POU domain protein;POU domain, class 4, transcription factor 2;brain-3B;brain-specific homeobox/POU domain protein 3B APPROVED protein-coding ENSG00000151615 9219 00220 113725 REVIEWED 1625829 POU5F1P6 POU class 5 homeobox 1 pseudogene 6 3 3 3 q21.3 126825445 126827409 - 129876179 129878143 - 128393489 128395453 - 100009668 ABBA01020906;ABBA01020907;AC079945;AMYH01013465;NG_006105 pseudo 33312 INFERRED 1625828 POU5F1P7 POU class 5 homeobox 1 pseudogene 7 3 3 q12.1 99320807 99321509 + 97838117 97838819 + 100009669 ABBA01026938;AC117460;AMYH01013351;NG_006106 pseudo 33313 INFERRED 1346307 POU4F1 POU class 4 homeobox 1 This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012] 13 13 q31.1 78071228 78075696 - 79173227 79177695 - 1580863;6480464 22064348;8995448;16276351;16247485;15272315;15021903;12934100;12911730;12893201;12810599;12477932;12441296;12432261;12427558;9448000;8941380;8889548;8248179;8234287;7623109;1357630;17239249;20376082;20348952;21116278;21928122;22930747 5457 Q01851 ABBA01021680;ABBA01021681;AL445209;AMYH01005226;BM714015;BM726529;CH471093;L20433;N74107;NM_006237;U10063;X64624 AAA57161;AAA65605;AAI48331;AAI48793;CAA45907;EAW80584;EAW80585;NP_006228;Q01851 Hs.654522 1336717;1656503;1670890;1776985;1791782;1796542;2175385;5492123;7185347;7186121 AFM185XA3;D13S160;PMC125354P1;POU4F1__1219;Pou4f1;RH17633;RH70862;SHGC-35779 BRN3A;FLJ13449;Oct-T1;RDC-1;brn-3A OTTHUMP00000018535;POU domain, class 4, transcription factor 1;brain-3A;brain-specific homeobox/POU domain protein 3A;brn-3A;homeobox/POU domain protein RDC-1 APPROVED protein-coding ENSG00000152192 9218 03379 601632 REVIEWED 1344654 POU2F1 POU class 2 homeobox 1 The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010] 1 1 q24.2 165456767 165651966 + 167190066 167396582 + 1580863;6480464;6484113 22396547;15489334;15302935;15138251;15105429;14702039;14645506;14612514;14586402;14559893;14522952;12923055;12887926;12887915;12853155;12727885;12672812;12669425;12663137;12598320;12477932;12446597;12391146;12144930;12019209;11997177;11856838;11777930;11380252;11134019;10779377;10490647;10480874;10383413;9889203;9584182;9537509;9418884;9368058;8668525;10629049;12670868;7945330;9242494;2341156;11891224;19422935;19240061;19174780;19171782;19118657;19070619;19064610;19058140;18940312;18772384;18682386;18634911;18599544;18550719;18390905;18083338;18030470;17442950;17316622;17273778;17192276;16710414;16360016;16301215;16186125;16116232;16002402;15831936;15817654;15786443;15613485;8227066;8479524;8462099;8454622;8202368;8156594;7842742;7720710;7663141;7642649;2905684;1887216;7690421;15207707;12393188;11279128;10976766;11583619;10541551;11096094;22750226;20921968;22349263;11056176;1684878;19327156;19359385;19463811;19467240;19536175;19617623;19804407;19898263;19965638;20215511;20237496;20379614;9525610;8314572;20211142;20713004;20886065;21059098;16344560;17213819;20956498;21832049;22939629;21320718;16025120;18000219;9823775;21444690;21555551;21562485;20971815;21185600;21399967;21697476;21897860;21985966;21906983;21387309;22310390;21252943;22521726;23053895;23000965;23172665;23261988;22842522;22883199 5451 B4DYN6;F5GZN2;F5H589;H0YKD7;H0YKR6;H0YLB5;J3KP77;P14859 ABBA01047244;ABBA01047245;ABBA01047246;ABBA01047247;ABBA01047248;ABBA01047249;AK091438;AK124826;AK302525;AK303201;AK308004;AL136984;AL359962;AL451050;AMYH01001481;AMYH01001482;AMYH01001483;AY113189;BC001664;BC003571;BC007388;BC037864;BC052274;BX954888;CH471067;DA937884;DC370634;NM_001198783;NM_001198786;NM_002697;NR_037163;S66902;X13403 AAH01664;AAH03571;AAH07388;AAH52274;AAM77920;BAG52361;BAG63798;BAG64291;CAA31767;EAW90786;EAW90787;EAW90788;NP_001185712;NP_001185715;NP_002688;P14859 Hs.283402 1340312;1646980;1656982;1682638;1692764;1693146;1714241;1715869;1716997;1741815;1790355;2107521;2116553;2121335;2158802;5037552 AL009931;AL010018;AL034148;AL034300;D1S2630;D8S2279;GDB:185237;POU2F1;POU2F1__3243;RH119629;RH119899;RH124045;RH65089;RH68695;RH70817;STS-S94421 FLJ42836;OCT1;OTF1;oct-1B NF-A1;OTF-1;OTTHUMP00000032348;OTTHUMP00000032349;OTTHUMP00000032350;OTTHUMP00000032351;Octamer-binding transcription factor-1;POU domain, class 2, transcription factor 1;oct-1;octamer-binding protein 1;octamer-binding transcription factor 1 APPROVED protein-coding ENSG00000143190 9212 01250 164175 VALIDATED 5686918 POU6F2-AS1 POU6F2 antisense RNA 1 7 p14.1 39444197 39445945 - 100861520 AACC02000038;ABBA01058140;AC005483;AI807878;AMYH01017189;BX113391;CH236951;NR_046711 Hs.571292 APPROVED miscrna ENSG00000224122 40979 VALIDATED 1322006 POU6F2 POU class 6 homeobox 2 This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 7 7 7 p14.1 39005468 39491972 + 39012933 39470915 + 39017609 39504390 + 1580863;7240710 16217254;17164647;18029348;20201926;20379614;8601806;15459955;12853948;11284034;11183772;20663923;23382691 11281 C9JSC0;H0YK27;H0YKR5;H0YL15;H7C2B2;P78424 AACC02000036;AACC02000037;AACC02000038;ABBA01056931;ABBA01056932;ABBA01056933;ABBA01058139;ABBA01058140;AC005483;AC011292;AC073345;AC092174;AK309700;AMYH01017189;CH236951;CH471073;DN991890;NG_016022;NM_001166018;NM_007252;U91934;U91935 AAB49727;AAB49728;AAC83404;AAI52916;AAP21873;AAS07475;EAL23992;EAW94116;EAW94117;NP_001159490;NP_009183;P78424 Hs.137106 1334833;1335961;1336797;1705348;1706290;1711882;1720449;1724323;1772439;1786300;1786314;1790575;2130203;2131253;2135412;2138803;2160492;2164883;2175401;2176143;2185210;2219542;7186139;7187391;7187399 D1S2817;D7S1602;D7S1966;D7S2176;D7S2360;D7S3053;D7S510;D7S555;G49550;G59177;GDB:1317344;GDB:1318096;GDB:1318649;GDB:4585608;HSC206_(7Gr39mb);POU6F2__5750;RH119083;RH71269;SHGC-153865;SHGC-154765;SHGC-80702;SHGC-83526 RPF-1;WT5;WTSL OTTHUMP00000198531;OTTHUMP00000198532;POU domain, class 6, transcription factor 2;Wilms tumor suppressor locus;retina-derived POU domain factor 1;retina-derived POU-domain factor-1 APPROVED protein-coding ENSG00000106536 21694 10162 601583;609062 REVIEWED 1352455 PP1P pyrophosphatase (inorganic) 1 pseudogene 3 3 3 p24.3 17851337 17852621 - 17887806 17889273 - 17912909 17914193 - 151842 ABBA01025117;AC104297;AC132807;AMYH01013008;NG_002639 pseudo 28884 INFERRED 1351786 POU3F2 POU class 3 homeobox 2 This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012] 6 6 q16 99389301 99393387 + 99282580 99286666 + 1580863;6480464 18996486;18923447;18829533;17163992;16858508;15489334;15024080;14702039;14574404;12782656;12477932;10332029;9632656;9178889;8441633;7651733;7478537;2739723;2216722;1565620;9105675;11029584;7601453;9482665;15024079;19023125;20337985;21435193;21358674;21890473;22988297;16344560;23069940;23251661;23358112;23459443 5454 B3KTH8;P20265 ABBA01014494;ABBA01014495;AK095588;AL022395;AMYH01016536;AMYH01016537;BC051699;BQ423615;BU183021;CH471051;DA491157;L37868;NM_005604;Z11933 AAB59611;AAH51699;BAG53090;CAA77990;EAW48491;NP_005595;P20265 Hs.182505 1646043;1678195;1735622;1796538;1855316;2147247;2153041;2190783;5094634 D6S1231E;D6S2053;PMC196070P1;POU3F2;POU3F2__1213;RH12297;RH93009;WI-19206;WI-22176 BRN2;N-Oct3;OCT7;OTF-7;OTF7;POUF3;brn-2;oct-7 OTF-7;OTTHUMP00000016887;POU domain, class 3, transcription factor 2;brain-2;brain-specific homeobox/POU domain protein 2;brn-2;nervous system-specific octamer-binding transcription factor N-Oct-3;oct-7;octamer-binding protein 7;octamer-binding transcription factor 7 APPROVED protein-coding ENSG00000184486 9215 02734 600494 REVIEWED 6480347 POU6F2-AS2 POU6F2 antisense RNA 2 p14.1 14702039 100689074 AK023033 Hs.675876 APPROVED miscrna 21887 1350605 POU5F1 POU class 5 homeobox 1 This gene encodes a transcription factor containing a POU homeodomain. This transcription factor plays a role in embryonic development, especially during early embryogenesis, and it is necessary for embryonic stem cell pluripotency. A translocation of this gene with the Ewing's sarcoma gene, t(6;22)(p21;q12), has been linked to tumor formation. Alternative splicing, as well as usage of alternative translation initiation codons, results in multiple isoforms, one of which initiates at a non-AUG (CUG) start codon. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Mar 2010] 6 6 p21.31 31240093 31246430 - 31132114 31138451 - 2292442;1580863;2292435;2292433;2292428;2292429;2292432;2292431;2292434;2292443;6480464;6484113 15386301;17205510;17549357;17996359;18162782;17785371;18045648;17413979;15371950 15342930;15513931;15467907;15105401;12923055;12841847;12727846;12653732;12477932;11891324;11689681;11099378;11096094;9368058;8889549;8567814;8500351;8088794;1723621;1408763;18191611;16153702;9814708;18281244;19549847;19445899;19438894;19414369;19409607;19394308;19350677;19347886;19274762;19224238;19171782;19170206;19126554;19103427;19058139;19023518;18985733;18957414;18946985;18810488;18787205;18765667;18710938;18676852;18617685;18612434;18593985;18467432;18440631;18439155;18388306;18366076;18338169;18295396;18269588;18254969;18199879;18157115;18088417;18032701;17959850;17923501;17761754;17682839;17573914;17525163;17506876;17409736;17390031;17379765;17314394;17314032;17273778;17226773;17211834;17136117;17068183;16951404;16916925;16892178;16702430;16582099;16421218;16229821;16149048;15917470;15790780;15749924;15695770;15625129;15615706;22160855;22396540;22482508;21262915;21301344;21419292;22252524;20173672;20647538;20662612;20587610;20458727;20505756;20505821;15729702;17982423;18000303;19102659;19271143;19274063;19327014;19383152;19396148;19458492;19483629;19489092;19559696;19657699;19696409;19718018;19736317;19751112;19777066;19816951;19851445;19966271;19968627;19969351;20034424;20051954;20054811;20074550;20101213;20103622;20139178;20224565;20224970;20230781;20356403;20379614;20404147;20412747;19884257;20477760;16557044;17245123;20171362;19060217;20333750;20412569;20462980;20736927;20510497;20818602;21159654;19224167;20858707;18231740;20347080;20698766;20721963;20203285;20805580;21107090;22286766;23024368;20123703;20958186;21151097;20433421;21135096;21477851;20824712;18339675;20937145;20497257;21394007;21166886;22914767;22944295;23002208;20981110;21273125;21479367;20942235;20879854;20508149;20594032;21496429;21852325;21951846;21365617;21798248;17013377;18687992;18757296;19528230;21376027;21674242;21684074;21048921;21559451;21962512;21151833;21844352;23088399;23041284;22824146;21403679;21631526;21947321;22037460;21547540;20038322;21804543;21987575;15047715;21938739;22392999;22393366;22777760;22901285;23185410;21480394;21533858;22613719;21900452;21960344;21227461;22301499;21692598;21725800;22014056;22363145;22207173;22247013;22387393;21801394;21912425;22300949;22378186;22446105;22448662;22576801;22429998;22311737;22340650;22474382;20881960;23307247;23349823;23539445;22795133;21946204;22832160;23213213;22727933;23276226;23588367;22903480;23541921;21868340;22743827;23049906;23290742;23302226;22588915;23136034;22844522;22847005;22528324;23340171;21602143;21602158;22922943;23000165;23052207;23255053 5460 D2IYK3;F2Z381;M1S623;Q5STF3 AA205411;AB088113;AB103619;AB202105;ABBA01038069;AI811039;AL662833;AL662844;AL773544;AM851115;AM851116;AM851117;AM851118;AM851119;AM851120;AM851121;AM851122;AM851123;AM851124;AM851125;AM851126;AMYH01016209;BA000025;BC020712;BC069246;BC117435;BC117437;BQ278003;BX088580;CD247724;CH471081;CR388229;CR759815;CR847794;DQ486514;DQ486515;DQ486516;DQ486517;EU518650;FM177951;FM177952;FM177953;FM177954;FM177955;FM177956;FM177957;FM177958;FM177959;FM177960;FM177961;FM177962;FM177963;FM177964;FM177965;FM177968;GU480808;GU480809;GU480810;GU480811;GU480812;GU480813;GU480815;GU480816;GU480817;GU480818;GU480819;GU480820;GU480821;GU480822;GU480823;GU480824;GU480825;GU480826;GU480827;GU480828;GU480829;GU480830;HQ122658;HQ122659;HQ122660;HQ122661;HQ122662;HQ122663;HQ122664;HQ122665;HQ122666;HQ122667;HQ122668;HQ122669;HQ122670;HQ122671;HQ122672;HQ122673;HQ122674;HQ122675;NM_001173531;NM_002701;NM_203289;S81255;Z11898;Z11899 AAB35990;AAI17436;AAI17438;ACD14148;ADE48539;ADE48540;ADE48541;ADE48542;ADE48543;ADE48544;ADE48545;ADE48546;ADE48547;ADE48548;ADE48549;ADE48550;ADE48551;ADE48552;ADE48553;ADE48554;ADE48555;ADE48556;ADE48557;ADE48558;ADE48559;ADR82975;ADR83327;ADW77313;ADW77314;ADW77315;ADW77316;ADW77317;ADW77318;ADW77319;ADW77320;ADW77321;ADW77322;ADW77323;ADW77324;ADW77325;ADW77326;ADW77327;BAB63311;BAC54946;BAE78630;BAF31281;CAA77951;CAA77952;CAO99189;CAO99190;CAO99191;CAO99192;CAO99193;CAO99194;CAO99195;CAO99196;CAO99197;CAO99198;CAO99199;CAO99200;CAQ76268;CAQ76269;CAQ76270;CAQ76271;CAQ76272;CAQ76273;CAQ76274;CAQ76275;CAQ76276;CAQ76277;CAQ76278;CAQ76279;CAQ76280;CAQ76281;CAQ76282;CAQ76285;EAX03366;EAX03367;EAX03368;NP_001167002;NP_002692;NP_976034;Q01860 Hs.249184 1742115;1742117;1742119;2137171;2217802;5015861;5024039;5037552;7185938 D10S16;D16S325;D8S2279;GDB:191805;GDB:191806;GDB:191807;POU5F1_3066;SHGC-12693 MGC22487;OCT3;OCT4;OTF-3;OTF3;OTF4;Oct-3;Oct-4 OTTHUMP00000029292;OTTHUMP00000221150;OTTHUMP00000221151;OTTHUMP00000239665;POU domain transcription factor OCT4;POU domain, class 5, transcription factor 1;POU-type homeodomain-containing DNA-binding protein;octamer-binding protein 3;octamer-binding protein 4;octamer-binding transcription factor 3;octamer-binding transcription factor-3 APPROVED protein-coding ENSG00000204531 9221 01252 164177 REVIEWED 1321371 POU4F3 POU class 4 homeobox 3 This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009] 5 5 q32 145698869 145700200 + 145718587 145720083 + 1599168;1580863;6480464;7240710 9506947 7623109;19462854;18347256;18228599;17611044;15489334;15465029;14585957;12477932;12209986;8637595;19372648;20054994;20434433;18029348;20301607 5459 Q15319 ABBA01026340;AC011396;AF044575;AMYH01015685;BC104923;BC112207;CH471062;NG_011885;NM_002700;U10060;U10061 AAA57160;AAC06203;AAI04924;AAI12208;ABZ92178;ADR82930;EAW61843;EAW61844;EAW61845;EAW61846;NP_002691;Q15319 Hs.553499 5492499;5492941;5494063 Pou4f3;UniSTS:481349;UniSTS:483311 BRN3C;DFNA15;MGC138412 OTTHUMP00000160092;POU domain, class 4, transcription factor 3;brain-3C;brain-specific homeobox/POU domain protein 3C;brn-3C APPROVED protein-coding ENSG00000091010 9220 03911 602459;602460 REVIEWED 1604736 PP2D1 protein phosphatase 2C-like domain containing 1 3 3 3 p24.3 19961983 19994294 - 20017509 20028730 - 20021453 20053765 - 6480464 12477932;21832049 151649 A8MPX8;Q2M2Y9 ABBA01025091;ABBA01025092;ABBA01025093;AC097635;AK058178;AMYH01013012;BC021717;BC105097;BC105099;BI463522;BI463551;CH471055;NM_001252657;NR_027694 A8MPX8;AAI05098;AAI05100;BAB71705;EAW64304;NP_001239586 Hs.733161 1664635;1680256;1735316;1739819;1740791;1796638;1849398 D11S4361;D3S2948E;D3S3483E;HSC13E052;RAB5A_779;RH91784;SHGC-76753 C3orf48;FLJ25449 protein phosphatase 2C-like domain-containing protein 1 APPROVED protein-coding ENSG00000183977 28406 08066 VALIDATED 1606459 POU5F2 POU domain class 5, transcription factor 2 5 5 5 q15 88936192 88937486 - 93101771 93103065 - 93076015 93077309 - 6480464 15489334;14702039;12477932;7908264 134187 Q8N7G0 ABBA01069281;AC108102;AK098546;AMYH01015485;BC029532;BX641019;CH471084;NM_153216;Z21965 AAH29532;ABZ92379;BAC05328;CAA79976;CAE46012;EAW96016;NP_694948;Q8N7G0 Hs.678995 2152859;5015861;5037552;7185938 D10S16;D8S2279;STS-Z21965 DKFZp686P02123;FLJ25680;SPRM-1 POU domain, class 5, transcription factor 2;sperm 1 POU domain transcription factor protein-coding ENSG00000248483 26367 08695 PROVISIONAL 731653 POU6F1 POU class 6 homeobox 1 12 12 12 q13.13 50382323 50412965 - 49869232 49897744 - 51580719 51611477 - 1580863;6480464 7908264;18323601;16344560;15489334;14702039;12477932;8889548;8567814;8102789;1408763;19450691;19874398;20134265;18029348 5463 F8VSI9;Q14863 ABBA01031603;ABBA01031604;ABBA01031605;ABBA01031606;AC139768;AI417271;AK095191;AL832881;AMYH01004462;AW445212;BC051326;BC074765;BC107090;BM703234;CH471111;CK002954;DA026332;DA084199;L14482;NM_002702;NR_026893;Z21966 AAH51326;AAH74765;AAI07091;ABZ92179;BAG53003;CAA79977;EAW58179;EAW58180;NP_002693;Q14863 Hs.555886 1659701;1675963;1716893;2128881;2134197;2151207;5015961;5116954 D12S1904;D15S1477;RH121739;RH65190;RH80422;STS-Z21966;WI-19201;ha2176 BRN5;MPOU;TCFB1 OTTHUMP00000241714;OTTHUMP00000241715;POU domain, class 6, transcription factor 1;brain-5;brain-specific homeobox/POU domain protein 5;brn-5;mPOU homeobox protein protein-coding 9224 17883 VALIDATED 1642403 PPAN-P2RY11 PPAN-P2RY11 readthrough This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq, Nov 2010] 19 19 19 p13 10112562 10120905 + 10078071 10086414 + 10216899 10226065 + 12077223;11278528;9405388;12477932;20967262;21890473;23000965;23128233;22174317;22505724 692312 Q9NQ55 ABBA01029947;AC020931;AF030335;AJ300588;AMYH01009467;AX001017;BC171852;CH471106;NM_001040664;NM_001198690 AAB88674;AAI67833;CAB77112;CAC18877;EAW84076;NP_001035754;NP_001185619 Hs.14468 1739175;5014053 D13S1132;D1S3693 OTTHUMP00000196506;OTTHUMP00000196509;OTTHUMP00000210485;PPAN-P2RY11 protein;PPAN-P2RY11 readthrough transcript;SSF1/P2Y11 protein APPROVED protein-coding ENSG00000243207 33526 VALIDATED 1352864 PPA1 pyrophosphatase (inorganic) 1 The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008] 10 10 q11.1-q24 71632592 71663196 - 71962586 71993190 - 1303939;1580863;6480464;6907045 10542310 16130169;4130389;17494625;16583711;16236267;16169070;15489334;15164054;12477932;10931946;10733883;10576771;6146563;6120771;6118133;6022858;975879;656444;16186112;17008050;20206270;21317537;22797819;22939629;19135240;21514157;21139048;21890473;21906983;21963094;22053931 5464 Q15181;Q5SQT6 AB026723;ABBA01019620;ABBA01019621;AF092439;AF108211;AF119665;AF154065;AF217186;AK058193;AK127102;AL731540;AMYH01002811;AMYH01002812;AY295767;BC001022;BC061581;BC105034;BC105036;BC107882;BU520836;CH471083;NM_021129 AAD24964;AAD34643;AAF17222;AAG36780;AAH01022;AAH61581;AAI05035;AAI05037;AAI07883;AAP97214;ABM84523;BAA84702;EAW54383;EAW54384;EAW54385;EAW54386;NP_066952;Q15181 Hs.437403 1768137;5015619 A002R09;D11S3114 IOPPP;MGC111556;PP;PP1;SID6-8061 OTTHUMP00000019741;PPase;cytosolic inorganic pyrophosphatase;diphosphate phosphohydrolase;inorganic diphosphatase;inorganic pyrophosphatase;inorganic pyrophosphatase 1;pyrophosphatase (inorganic);pyrophosphatase 1;pyrophosphate phospho-hydrolase APPROVED protein-coding ENSG00000180817 9226 01527 179030 REVIEWED 1314882 PPAN peter pan homolog (Drosophila) The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010] 19 19 19 p13 10112456 10117466 + 10077965 10082975 + 10216899 10221975 + 1580863;6480464 17353931;10944437;15302935;17081983;16964243;16565220;15489334;12477932;12429849;12077223;11790298;11278528;10359593;10873382;9405388;19615732;12777385;21832049;18029348;21145461;18051367;22174317;22505724 56342 A8MV53;C9J3W3;C9JHF7;H7C446;Q9NQ55 ABBA01029947;AC020931;AJ292529;AMYH01009467;AW298633;BC000535;BC009833;BC033202;CH471106;NM_020230 AAH00535;AAH09833;AAH33202;ADZ15410;CAB99252;EAW84075;NP_064615;Q9NQ55 Hs.14468 BXDC3;MGC14226;MGC45852;SSF;SSF-1;SSF1;SSF2 OTTHUMP00000196505;OTTHUMP00000196506;OTTHUMP00000196509;OTTHUMP00000210485;brix domain-containing protein 3;homolog of S. cerevisiae SSF1;second-step splicing factor 1;ssf-1;suppressor of SWI4 1 homolog;suppressor of sterile four 1 APPROVED protein-coding ENSG00000130810 9227 08478 607793 VALIDATED 1604365 PPA2 pyrophosphatase (inorganic) 2 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 4 4 4 q25 103589454 103694416 - 106509683 106614676 - 106290234 106395227 - 6480464;6907045 16381901;16341674;16300924;15489336;15489334;15210126;15146197;14702039;12665801;12477932;11230166;11076863;11042152;22658931;19067239;20332099;20379614;6120771;20877624;18781797;21139048;21103663;23241943 27068 B4DFH3;D6R967;D6RAD3;D6RGI1;D6RGV9;E2QRM6;F8W7R6;H0Y8X2;H0Y9D8;H0YAK2;Q9H0T0 AB026722;ABBA01063733;ABBA01063734;AC004066;AC106888;AF161473;AF217187;AI419577;AK000466;AK289607;AK294097;AK299125;AL136655;AMYH01014440;AMYH01014441;AW953776;BC008246;BC012903;BC022803;BC035569;BC039462;BC057219;BG705183;BM840112;BM848099;CH471057;CN423093;NM_006903;NM_176866;NM_176867;NM_176869 AAF29088;AAG36781;AAH22803;AAH39462;AAH57219;AAY41040;ACE86426;ACE87101;BAA84701;BAA91184;BAF82296;BAG57434;BAG61178;CAB66590;CAL38123;CAL38360;CAL38629;CAL38669;CAL38671;EAX06180;EAX06181;EAX06182;EAX06183;EAX06184;NP_008834;NP_789842;NP_789843;NP_789845;Q9H2U2 Hs.654957 1338403;1644216;1648612;1654367;1699272;2145542;2183925;5015861;5095844;7185938 D10S16;D4S3026;RH103218;SHGC-23091;SHGC-25100;SHGC-51692;SHGC-59817;SHGC-67245;SHGC-67401 FLJ20459;HSPC124;MGC49850;SID6-306 OTTHUMP00000158985;OTTHUMP00000158986;OTTHUMP00000218511;OTTHUMP00000218513;OTTHUMP00000218514;OTTHUMP00000218520;PPase 2;inorganic pyrophosphatase 2, mitochondrial;pyrophosphatase SID6-306;pyrophosphate phospho-hydrolase 2 APPROVED protein-coding ENSG00000138777 28883 18494 609988 REVIEWED 1607002 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B 8 8 8 p11.23 37073700 37079790 - 38239805 38245895 - 38120648 38126738 - 6480464 18757432;17590538;16261160;12477932;17207965;21219541;21531764 84513 C9JKF5;E9PNB1;H0YCK0;H0YCQ3;H0YDY2;Q8NEB5 AA761242;ABBA01023539;AC087362;AF212238;AK292118;AMYH01018653;BC033025;BC106014;BD418664;BE856962;BQ272061;CH471080;DB458595;NM_001102559;NM_001102560;NM_032483 AAH33025;AAI06015;AAK14924;ADQ31845;BAF84807;EAW63325;EAW63326;EAW63327;EAW63328;EAW63329;NP_001096029;NP_001096030;NP_115872;Q8NEB5 Hs.567619 1647150;1722309;1777712;2120533;2166008;2167355;5037552 A006U16;A008W47;D8S2279;G60070;RH18404;RH35840;WIAF-1693 DPPL1;HTPAP OTTHUMP00000228419;OTTHUMP00000228420;OTTHUMP00000228421;OTTHUMP00000228422;OTTHUMP00000228423;OTTHUMP00000228444;diacylglycerol pyrophosphate like 1;phosphatidate phosphatase PPAPDC1B;phosphatidic acid phosphatase type 2 domain-containing protein 1B protein-coding ENSG00000147535 25026 13720 610626 VALIDATED 1351368 PPAPDC1A phosphatidic acid phosphatase type 2 domain containing 1A 10 10 10 q26.12 115947750 116080667 + 122206456 122339357 + 122216466 122349367 + 2314524;6480464 16818692 12477932;17590538;20379614;23535033 196051 B7Z3R3;Q5VZY2 ABBA01062874;ABBA01062875;ABBA01062876;ABBA01062877;ABBA01062878;AC023282;AC073587;AK098668;AK310178;AL157782;AMYH01003124;AMYH01003125;BC101267;BC101268;BC101269;BC122535;BC132787;BD418666;BI550027;CH471066;CR739184;DR000933;NM_001030059 AAI01268;AAI01269;AAI01270;AAI22536;AAI32788;ADR82924;EAW49368;EAW49369;NP_001025230;Q5VZY2 Hs.40479 1339110;1341250;1651017;1655037;1666480;1722749;1726693;1755971;1756581;1763789;2178248;2219546;7187815 D10S1757;D10S209;G60313;G62583;PPAPDC1__5754;RH44621;SHGC-142790;SHGC-143619;SHGC-147463;SHGC-35172;U64670;U64671 DPPL2;MGC120299;MGC120300;PPAPDC1 OTTHUMP00000020618;OTTHUMP00000020619;diacylglycerol pyrophosphate like 2;phosphatidate phosphatase PPAPDC1A;phosphatidic acid phosphatase type 2 domain-containing protein 1A protein-coding ENSG00000203805 23531 18745 VALIDATED 1603230 PPARAL peroxisome proliferator-activated receptor alpha-like p12-p11.2 9027492 5466 U72041 Hs.585799 protein-coding 9233 1314085 PPAPDC3 phosphatidic acid phosphatase type 2 domain containing 3 9 9 9 q34.13 104704143 104723704 + 133154945 133174468 + 134165081 134184649 + 737633;6480464 12477932 16303743;15489334;15164053;14702039;12958361;19704009 84814 Q8NBV4 ABBA01012085;AK027568;AK075207;AK315502;AL354855;AMYH01021778;BC006362;CH471090;CQ783303;NM_032728 AAH06362;BAB55204;BAC11472;BAG37886;CAF86515;EAW87966;EAW87967;NP_116117;Q8NBV4 Hs.134292 2139443;2175910 A008J42;RH41777 C9orf67;FLJ14662;KIAA0515;MGC12921;NET39 OTTHUMP00000022398;phosphatidic acid phosphatase type 2 domain-containing protein 3;probable lipid phosphate phosphatase PPAPDC3 protein-coding ENSG00000160539 28174 12972 VALIDATED 1344834 PPAP2A phosphatidic acid phosphatase type 2A The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 5 5 q11 54756439 54866630 - 54720682 54830873 - 6480464;6907045 9705349;9468526;9570154;9305923;18755152;17169329;17005594;16950767;15489334;14506139;12909631;12477932;12471011;12444089;12426308;10962286;10358934;10087003;9607309;17207965;20379614;22939629;15146197;21139048;14702039;17079146;21988832;23426360 8611 D6REC3;O14494 AB000888;ABBA01015739;ABBA01015740;ABBA01015741;ABBA01015742;ABBA01015743;AC010480;AC025777;AF014402;AF014403;AF017116;AK124204;AMYH01015089;AMYH01015090;BC008787;BC039847;BC117133;BC143281;BC168254;BI761588;BQ019387;CH471123;CN338068;HY063640;JA738741;JA738743;NM_003711;NM_176895;NR_103485 AAC16032;AAC16033;AAC32041;AAH39847;AAI17134;AAI43282;ADQ33024;BAA22593;CCF77023;CCF77024;EAW54920;EAW54921;EAW54922;EAW54923;NP_003702;NP_795714;O14494 Hs.696231 2175710;2184899;5015961;5022322 D11S2560;D15S1477;D5S2546;WI-15758 LLP1a;LPP1;PAP-2a;PAP2;PAP2a2;PAP2alpha2;PAPalpha1 OTTHUMP00000221662;OTTHUMP00000221663;PAP2-alpha;PAP2a;lipid phosphate phosphohydrolase 1;lipid phosphate phosphohydrolase 1a;phosphatidate phosphohydrolase type 2a;phosphatidic acid phosphatase 2a;phosphatidic acid phosphohydrolase type 2a;type 2 phosphatidic acid phosphohydrolase;type-2 phosphatidic acid phosphatase alpha APPROVED protein-coding ENSG00000067113 9228 06178 607124 REVIEWED 734254 PPAP2C phosphatidic acid phosphatase type 2C The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 19 p13 520837 531227 + 232043 242435 - 281043 291435 - 1580863;6480464;6907045 9705349;9607309;18215144;16467304;15489334;12477932;12471011;10992322;9570154;16169070;21139048;21963094;21988832;8889548 8612 K7EMK9;K7ENH4;O43688 AA428937;AB209696;ABBA01002551;AC016588;AF035959;AF047760;AF056083;AMYH01009178;BC002806;BE615792;BG831889;BM050291;BM982485;BT007021;CH471242;HY160303;NM_003712;NM_177526;NM_177543 AAC15968;AAC25666;AAC32104;AAH02806;AAP35667;BAD92933;EAW61207;EAW61208;EAW61209;NP_003703;NP_803545;NP_808211;O43688 Hs.465506 2110665;2118225;2160673;5015619;5015879;5015961;5016478;5017266;5020414;5020946;5020948;5021369;5022200;5022463;5022578;5024272;5024761;5037552;5118718 D11S3114;D11S3590;D15S1477;D19S676E;D1S1423;D2S1254;D3S1673;D8S2279;G35510;GDB:314949;GDB:434012;L17688;L17796;L17971;L18426;L18506;PPAP2C_8838;RH11852;RH36905 LPP2;PAP-2c;PAP2-g PAP2-gamma;PAP2c;lipid phosphate phosphohydrolase 2;phosphatidate phosphohydrolase type 2c;phosphatidic acid phosphatase 2c;phosphatidic acid phosphohydrolase type 2c;type-2 phosphatidic acid phosphatase-gamma APPROVED protein-coding ENSG00000141934 9230 06180 607126 REVIEWED 1604845 PPAP2B phosphatidic acid phosphatase type 2B The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010] 1 1 p32.2 56733021 56817845 - 56960419 57045257 - 6480464;6907045 9705349;9305923;18215144;17555747;17005594;15489334;14725715;12856002;12660161;12477932;12471011;10739957;10564277;9110174;8889548;8619474;22837378;16344560;16099422;20123964;19913121;20628086;21378988;21378990;21569306;21832049;16147992;21987572;21139048;21906983;21846871 8613 O14495;Q5U0F7 AB000889;ABBA01074681;AC099562;AC099789;AF017786;AF043329;AF480883;AK312439;AMYH01000644;BC009196;BM471786;BM719257;BQ027458;BT019589;BU608248;BU616092;CH471059;DA580891;NM_003713;U79294 AAB50222;AAC63433;AAD02271;AAH09196;AAO84481;AAV38396;ABM84447;ABM86870;BAA22594;BAG35348;EAX06651;EAX06652;EAX06653;NP_003704;O14495 Hs.405156;Hs.619002 1644648;1672885;1684094;1686528;1712098;1854496;2129347;2161422;2163669;2171433;2172640;5017502 A002U15;D1S1566;D1S2089;D1S2091;G13351;G54098;PPAP2B;RH91798;RH93360;SHGC-56634;SHGC-74867;SHGC-74887 Dri42;LPP3;MGC15306;PAP-2b;PAP2-b;PAP2-beta;PAP2B;VCIP OTTHUMP00000009855;PAP2 beta;lipid phosphate phosphohydrolase 3;phosphatidate phosphohydrolase type 2b;type-2 phosphatidic acid phosphatase-beta;vascular endothelial growth factor and type I collagen inducible APPROVED protein-coding ENSG00000162407 9229 06179 607125 REVIEWED 1606068 PPAPDC2 phosphatidic acid phosphatase type 2 domain containing 2 9 9 9 p24.1 4584804 4587764 + 4652298 4655262 + 4662294 4665274 + 6480464 17081983;16464866;15489334;15164053;14702039;12477932;19220020;20110354;21139048;16344560 403313 Q8IY26 ABBA01065420;AK074672;AK128369;AK296773;AL136231;AMYH01019201;BC036833;BC038108;BU632000;CH471071;DA416947;NM_203453 AAH38108;BAG54667;BAG59352;EAW58785;NP_982278;Q8IY26 Hs.107510;Hs.741406 5107469 STS-AA026012 FLJ46512;FLJ90191;MGC15483;PDP1;PSDP;bA6J24.6 OTTHUMP00000021003;PPAP2 domain-containing protein 2;phosphatidic acid phosphatase type 2 domain-containing protein 2;polyisoprenoid diphosphate phosphatase type 1;presqualene diphosphate phosphatase protein-coding ENSG00000205808 23682 17397 611666 VALIDATED 1348767 PPATP1 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 3 3 p12.1 87853491 87855034 - 87100345 87101888 - 8106516;8106516 100289640 ABBA01004628;AC108709;AMYH01013324;NG_022210 1680503 RH70521 pseudo 9239 INFERRED 7246747 PPATP2 phosphoribosyl pyrophosphate amidotransferase pseudogene 2 100421601 ABBA01030128;AL662885;AMYH01022637;NG_026724 pseudo 48738 INFERRED 737309 PPARA peroxisome proliferator-activated receptor alpha Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008] 22 22 q13.31 44925163 45018317 + 46546499 46639653 + 1580222;1580228;1580229;1580230;1580231;1580226;1580863;2313779;2313778;5509936;5509938;5509941;5509939;5509942;5509944;5509940;5509943;5683635;5563035;5683642;1624238;5683636;5562037;5683621;5683626;5562819;5561899;5508455;6480464;5561928;5683625;6907045;7240710 15967866;16043164;11864924;10828087;11119019;12006394;19472040;19763017;20650341;21253492;21262334;21929649;21305343;19317897;20671072;15685545;17888025;19322024;15964663;15382117;22089192;17459894;16875506;18549840;12938026;18562561;17850927;17047518 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5465 B0QYX1;B0QYX2;F1D8S4;Q07869 AB073605;AB307690;ABBA01010439;ABBA01010440;ABBA01010441;ABBA01010442;ABBA01010443;AF018254;AF086231;AK024738;AK027101;AK091885;AK289821;AK311946;AL049856;AL078611;AMYH01012855;AMYH01012856;AMYH01012857;AU099251;AU104848;AY206718;AY258326;AY258327;AY258328;AY258329;AY258330;AY258331;BC000052;BC004162;BC009069;BC071932;BQ024839;CH471138;CR456547;CR457435;DQ867023;EU395809;EU650667;HI519550;HQ692862;L02932;NG_012204;NM_001001928;NM_005036;S74349;Y07619;Y16186;Z94161 AAA36468;AAB32649;AAO13489;AAO89521;AAO89522;AAO89523;AAO89524;AAO89525;AAO89526;ABI52417;ABY73535;ACD12656;ADZ17373;BAF82510;BAG34887;BAH02281;CAA68898;CAA76112;CAG30433;CAG33716;CAI22450;CAK54578;CAK54877;CAQ09265;CAQ09266;CAQ09267;CBX54356;EAW73402;EAW73403;EAW73404;NP_001001928;NP_005027;Q07869 Hs.103110;Hs.710044 1671225;1681241;1687814;1768830;1853966;1853968;1854835;2111964;2122982;2131566;2165538;2217804;5016851;5037552;5093406 A005R09;A009O07;Cda02e06;D22S1562;D22S1586;D8S2279;G20431;G32699;PPARA_2988;RH27889;RH45682;RH80031;SHGC-32144;WI-11293;WI-17171 MGC2237;MGC2452;NR1C1;PPAR;PPARalpha;hPPAR OTTHUMP00000197740;OTTHUMP00000197741;PPAR-alpha;nuclear receptor subfamily 1 group C member 1;peroxisome proliferative activated receptor, alpha;peroxisome proliferator activated receptor alpha;peroxisome proliferator-activated nuclear receptor alpha variant 3;peroxisome proliferator-activated receptor alpha APPROVED protein-coding ENSG00000186951 9232 01369 170998 REVIEWED 1347875 PPBPP1 pro-platelet basic protein pseudogene 1 4 4 4 q13.3 72073668 72074935 + 74932447 74933419 + 74713503 74714770 + 6480464 18797178;17700216;15115243;12297130;1316786 728045 ABBA01022993;AC092438;AC108029;AMYH01014302;NG_016721 PPBPL1;TGB2 APPROVED pseudo 9241 188035 VALIDATED 1342674 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008] 4 4 p15.1 23402742 23500798 - 23793644 23891700 - 1580863;2311391;6480464;6484262;6484260;6484532;6484263;6484266;6484267;6484271;6484530;6484270;6484259;6484257;6484531;6484526;6484261;6484264;6484265;6484269;6484527;6484113;6907045;7241821;7241823;7241824;7241837;7241838;7241840;7241841;7241843;7241844;7241845;7241846;7241847;7241848;7241849;7241851;7241854;7242009;7242011;7242012;7242013;7242015;7242016;7242017;7242018;7242019;7242020;7242023;7242025;7242026;7242027;7242032;7242043;7242044;7242045;7242046;7242049;7242051;7242061;7242065;7242067;7242170;7242175;7242179;7242180;7242183;7242188;7242192;5686899;7242024 18270681;22246294;22540007;20566666;22208735;22087236;22040668;21376232;20732852;21595954;22589246;22642418;20647557;22392034;22126533;22102466;21651979;21373642;23449621;23416000;23406886;23348010;23342071;23335958;23320128;23297372;23274094;23272147;23271280;23269818;23256146;23251491;23250358;23499865;23210442;23180161;23174781;23166610;23152488;23150719;19273754;17018277;23147503;23144332;22648295;22684233;21881206;21784897;18162502;12606537;22076434;19900151;19542201;19158402;22996345;22922125;22892143;22824914;22658649;22561641;22521344;22510382;22401878;23533487;22105890;22003111;22874759 20851810;22340220;22247001;10713165;12588810;14636573;15572661;11854298;11551810;10585775;1258810;19453261;19422653;19422651;19420105;19322023;19297390;19265027;19237423;16403952;16395669;16341842;16241916;16216916;16150865;16132959;16123152;16122961;16086291;16051671;15964996;15937669;15912394;15908514;15864539;15826954;15824463;15821111;15784253;15782399;15738346;15705733;15649578;15599700;15592662;15582274;15581067;15572376;15337744;15329387;15322103;15254719;15146371;15111510;14978033;14744933;14670614;14652494;14633846;14574455;14522988;12972445;12866036;12832613;12611894;12606503;12574109;12565902;12563009;12522104;12502716;12477932;12470660;12470296;19233136;19200361;19183932;19179292;19148128;19142226;19118529;19112161;19103600;19077249;19070258;19065516;19061896;19056482;19038972;18996470;18974883;18950845;18923559;18823672;18801770;18786524;18719883;18689799;18673300;18660489;18653753;18614852;18588668;18565194;18563384;18501443;18469005;18467552;18451773;18441008;18438697;18385139;18370824;18331997;18242180;18067759;17999673;17971240;17926914;17907962;17828388;17701054;17680531;17646210;17630210;17579564;17502589;17490458;17479445;17457313;17418099;17390150;17374560;17372612;17355643;17342473;17327880;17327385;17322100;17290397;17284167;17241533;17216277;17187763;17150186;17108241;17032743;17018837;16978381;16978372;16929032;16902166;16896940;16891621;16891307;16882880;16857725;16804087;16753578;16752166;16704985;16631115;16600233;16494845;16474966;16446747;16443502;16435105;12189208;12181572;12107756;12032643;12011097;11943463;11916956;11875072;11793024;11788685;11751919;11741533;11733490;11714715;11557984;11340167;11158005;10983978;10748020;10669761;10643692;10558993;12397057;21918181;22106445;10412986;9529258;18198341;20308248;20551328;19913121;20628086;20647061;20677014;20679960;20682687;20733583;20130411;20638986;20716531;12181319;15604093;15744310;16488887;17050673;18798693;19102936;19371772;19389810;19435887;19451226;19460884;19536736;19567523;19578796;19625249;19651776;19653005;19666693;19680556;19681917;19723495;19793803;19793822;19828207;19846556;19861117;19876004;19884383;19903700;19913841;19948975;19961051;19965780;20032281;20044476;20045142;20067526;20106991;20133449;20178833;20384434;20426853;20437825;20453000;20468064;20477822;20492333;20498286;20512451;22333269;23175776;20125101;20139785;20211864;20661474;20670916;20531298;20884884;20368732;20713359;20890895;20371735;20200320;20448046;20401754;19553684;20931535;20944660;20952631;18552123;21187426;20816721;17636037;21294239;21244673;20383327;21467224;15111488;22652814;23217713;19171140;22825315;22969086;23050972;21486805;19446346;21215313;21451146;21862870;22052997;16147992;17468099;18160712;22267390;22310107;20926756;21687738;21447778;21880746;21914785;22212273;21994947;21733854;22064484;21757867;22016516;21862727;22049338;22009745;22861165;23477830;22099309;22194199;22589185;22266114;22122487;22155889;21358044;21883960;21894159;22113536;22285815;22939990;21988832;22094256;22732512;23277535;23400010;23073717;19631645;23285255;22974658;23178651;23201126 10891 B7Z406;D6RBF3;Q3LIG1;Q9UBK2 AB061325;ABBA01032676;ABBA01032677;AC092834;AF106698;AF108205;AF159714;AF186379;AK024990;AK296591;AK301883;AK309261;AMYH01014061;AMYH01014062;AMYH01014063;BC029800;CH471069;EU280319;HQ695733;JQ772116;JQ772117;JQ772118;JQ772119;JQ772120;NG_028250;NM_013261 AAD51615;AAD56250;AAF18573;AAF19083;AAI56324;AAI57069;AAY41058;ABX44665;ADW77180;AFK29753;AFK29754;AFK29755;AFK29756;AFK29757;BAE46508;BAH12392;BAH13576;EAW92811;EAW92812;NP_037393;Q9UBK2 Hs.527078 1683369;2113564;2190941;2219548;5094866 MARC_11849-11850:1029349088:1;MARC_49176-49177:1118326844:1;PPARGC1A;PPARGC1A__5755;RH93032 LEM6;PGC-1(alpha);PGC-1v;PGC1;PGC1A;PPARGC1 L-PGC-1alpha;OTTHUMP00000123372;PGC-1-alpha;PPAR gamma coactivator variant form;PPAR gamma coactivator-1;PPAR-gamma coactivator 1-alpha;PPARGC-1-alpha;ligand effect modulator 6;ligand effect modulator-6;peroxisome proliferative activated receptor, gamma, coactivator 1, alpha;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-3ext;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-8a;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5;peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5-NT;peroxisome proliferator-activated receptor gamma coactivator 1-alpha 1643453;2314831 BW99_H;INSUL23_H APPROVED protein-coding ENSG00000109819 9237 05155 604517 REVIEWED 1350671 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 q32 149090057 149207474 + 149109815 149234585 + 1580863;1642499;1642500;1642501;6480464;6484531;7240710 16896940;16759305;15863669;20647557 11854298;19297390;19065516;18974884;18660489;17690194;17579828;17341490;17018837;16704985;16132959;15546003;14702039;12832613;12678921;12565902;12551939;12477932;12470660;12181319;12107756;12032643;11793024;11733490;10713165;10585775;21692888;22890011;20561910;19913121;20628086;20677014;20682687;17554339;19340012;19491097;19653005;20058823;20237496;20416077;20453000;20477822;16459311;20211142;20889127;17631495;21054343;21458501;22969086;21364124;21862727;22533417;22318606;23251661;23264620;22777349;23201126;22939990 133522 B7ZM40;H0Y713;Q8TDE4 ABBA01026296;ABBA01026297;AC008545;AC022100;AF468496;AF468497;AK024346;AK095391;AK123614;AK123715;AMYH01015703;AY188947;AY188948;AY188949;AY188950;BC026956;BC132971;BC132973;BC144251;BX648997;CA435617;CH471062;NG_016747;NM_001172698;NM_001172699;NM_133263 AAH26956;AAI32972;AAI32974;AAI44252;AAL78633;AAL78634;AAO40022;AAO40023;AAO40024;AAO40025;BAC04541;BAG53922;EAW61759;EAW61760;EAW61761;EAW61762;EAW61763;NP_001166169;NP_001166170;NP_573570;Q86YN6 Hs.483816 1658054;1707820;1730261;1780578;2144166;2155760;7184683 A189WF1;D5S1907;D5S442E;L28290;SHGC-82137;bac51268T DKFZp686C1790;ERRL1;FLJ14284;PERC;PGC-1(beta);PGC1B OTTHUMP00000160530;OTTHUMP00000198104;OTTHUMP00000198105;OTTHUMP00000198106;OTTHUMP00000198107;PGC-1-related estrogen receptor alpha coactivator;PPAR-gamma coactivator 1-beta;PPARGC-1-beta;peroxisome proliferative activated receptor, gamma, coactivator 1, beta;peroxisome proliferator-activated receptor gamma coactivator 1-beta APPROVED protein-coding ENSG00000155846 30022 10594 601665;608886 REVIEWED 736289 PPARD peroxisome proliferator-activated receptor delta This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010] 6 6 p21.2 35418313 35503933 + 35310335 35395968 + 1580681;633661;1625186;1580863;2313780;2313781;2324872;2324875;2324876;2324871;2324886;2324897;6480464;6907045 14988273;12600885;16804087;19818749;18573863;17652168;20058304;19997057;18497548;17461989;14676330 21070867;19283612;19208777;19157507;19074989;19064572;19056929;18797401;18797151;18720000;18701481;18676870;18660489;18657264;18636547;18627005;18625220;18606951;18566335;18511850;18438697;18388689;18379566;18337509;18305567;18288282;18252792;18240567;18182682;18048767;18037904;18024853;17926914;17855759;17724132;17705821;17693664;17669420;17618585;17436029;17431579;9113987;1333051;11551955;15192438;15803109;15793256;10991946;19383774;19307598;19303973;17409576;17356846;17355643;17327385;17324937;17322100;17303761;17303142;17272748;17259439;17254750;17178883;17148604;17119917;17116180;17068288;16979821;16966336;16953259;16906219;16897074;16806233;16752430;16652134;16645156;16511591;16476973;16387648;16368717;16361076;16344721;16344560;16306381;16285997;16141797;16091736;15979543;15890193;15888456;15811118;15790807;15604518;15591138;15489334;15231748;15146197;15128052;15102088;15001550;14758356;14702039;14641801;14574404;12970571;12934104;12909723;12615676;12594814;12477932;12009300;11980898;11867749;11847022;11226285;10872826;10866668;10851270;10839530;10567538;10555149;10198642;9647638;8910358;8812511;7876127;12943985;22509365;15615782;20424164;21331343;21352808;19913121;20160399;20485444;20621019;20628086;20645257;20647061;21520069;20195266;12955147;15604093;16053787;17294733;17803688;18937948;19201410;19429679;19435887;19453261;19461048;19512923;19527689;19578796;19615407;19628794;19653005;19666693;19681917;19723884;19756148;19805479;19818126;19838202;19863319;19878569;19903700;19935699;19948841;19948975;19951549;20044476;20045185;20200337;20308079;20379614;20416077;20453000;20512451;16930961;20811626;20844743;20855565;20624891;20221637;19538467;20592029;20595396;20840271;19395102;20824502;22209682;22683888;23086933;23262340;22945906;21176135;21283829;20238044;21487230;21496113;21834910;23023367;21531809;21750705;22021335;19279199;21896929;21400612;21765467;22277050;22310107;19953087;21426320;22072715;22939624;23056264;22247001;21998595;22192471;21696362;22944052;21967852;12962497;18793612;22606221;23137000;23284291;23049921;23455924;23545576 5467 F1D8S7;F5H830;Q9BUD4 AB099507;AB307691;ABBA01038227;ABBA01038228;ABBA01038229;ABBA01038230;ABBA01038231;ABBA01038232;AF246303;AK122614;AK291661;AK296425;AK304482;AK304878;AL022721;AMYH01016265;AMYH01016266;AMYH01016267;AY442342;AY919140;AY927506;BC002715;BC007578;BC127809;BE503383;BQ441091;CH471081;CN332566;DA192442;DA476590;HI519540;HQ692865;L07592;NG_012345;NM_001171818;NM_001171819;NM_001171820;NM_006238;NM_177435 AAA36469;AAF62553;AAH02715;AAH07578;AAR05439;AAX14041;ADZ17376;BAC78903;BAF84350;BAG53624;BAG65293;BAG65615;BAH02282;BAH12347;CBX54351;EAX03825;EAX03826;EAX03827;EAX03828;NP_001165289;NP_001165290;NP_001165291;NP_006229;NP_803184;Q03181 Hs.696032 1706190;1713249;1723593;1792130;1794630;1853371;2171615;5015619;5037552;5492104;5492106;7187005 AL031219;D11S3114;D6S1611;D8S2279;MARC_45796-45797:1102976080:1;MARC_45802-45803:1103063697:1;PMC137182P9;PMC33205P2;RH120615;RH123251;SHGC-80622;STS-L07592 FAAR;MGC3931;NR1C2;NUC1;NUCI;NUCII;PPAR-beta;PPARB OTTHUMP00000016256;OTTHUMP00000016257;PPAR-beta;PPAR-delta;nuclear hormone receptor 1;nuclear receptor subfamily 1 group C member 2;peroxisome proliferator activated receptor delta;peroxisome proliferator-activated nuclear receptor beta/delta variant 2;peroxisome proliferator-activated receptor beta;peroxisome proliferator-activated receptor delta 1643377 BW325_H APPROVED protein-coding ENSG00000112033 9235 02679 600409 REVIEWED 69168 PPARG peroxisome proliferator-activated receptor gamma This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. 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5468 D2KUA6;E7EU07;E7EUD1;E9PFJ1;E9PFV2;E9PFV3;E9PFX5;Q15179;Q4W448 AB005520;AB005526;AB097931;AB107271;AB307692;AB451337;AB451486;AB472042;AB565476;ABBA01025204;AC090947;AC091492;AC093174;AF012873;AF012874;AJ563369;AJ563370;AJ698135;AK223528;AK290581;AL523434;AMYH01012984;AMYH01012985;AMYH01012986;AY157024;BC006811;BG323933;BI820841;BM923992;BQ925271;BT007281;CH471055;D83233;DQ356894;HI519538;HQ692866;NG_011749;NM_005037;NM_015869;NM_138711;NM_138712;U63415;U79012;X90563 AAB04028;AAC51248;AAH06811;AAN38992;AAP35945;ABC97372;ABM82034;ABM85215;ADZ17377;BAA18949;BAA23353;BAA23354;BAD20647;BAD34540;BAD97248;BAF83270;BAG70151;BAG70300;BAH02283;BAI63629;BAM71699;CAA62152;CAA62153;CAD91388;CAD91389;CAG29019;CBX54350;EAW64123;EAW64124;EAW64125;NP_005028;NP_056953;NP_619725;NP_619726;P37231 Hs.162646 1716475;1744355;1757295;1761535;1792146;1792148;1793504;1794048;1794050;1794910;1854255;2113742;2119074;2122117;2217806;7185028 D15S130;GDB:451806;PMC137581P1;PMC137581P2;PMC22700P1;PMC310777P12;PMC310777P13;PMC84391P1;PPARG;PPARG_2755;RH10742;RH121417;RH12621;SHGC-144700;SHGC-145535;WI-20399 CIMT1;GLM1;NR1C3;PPARG1;PPARG2;PPARgamma OTTHUMP00000160185;OTTHUMP00000160186;OTTHUMP00000185030;OTTHUMP00000185032;OTTHUMP00000185034;OTTHUMP00000185036;OTTHUMP00000207750;PPAR gamma;PPAR-gamma;nuclear receptor subfamily 1 group C member 3;peroxisome proliferator activated receptor, gamma;peroxisome proliferator-activated nuclear receptor gamma variant 1;peroxisome proliferator-activated receptor gamma;peroxisome proliferator-activated receptor gamma 1 2289256;2289503;2289518 BW443_H;BW454_H;BW95_H APPROVED protein-coding ENSG00000132170 9236 03288 125853;137800;601487;601665;604367;609338 REVIEWED 736390 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. [provided by RefSeq, May 2010] 4 4 q12-q13 75071619 75072764 - 74852156 74853907 - 1625598;1580863;6480464 14730686 20510637;4005226;47244;17220270;17045893;16807663;16806233;16391012;16317101;15815621;15489334;15340161;15316029;14673015;12878486;12665801;12477932;12297130;12193731;11468158;11167759;10877842;10343098;10049766;9794434;9725262;8950790;8702798;8580362;8195702;8051099;8034022;7890771;7706245;6572368;6183294;2966071;2783111;2713489;2522778;2423119;2406364;2007144;1873479;1837963;1830861;1826003;1427896;1387511;1316786;426909;77677;10419831;16169070;19913121;20628086;10764593;15115243;16344560;17700216;17703412;18240029;18632422;18707017;18797178;19258923;20237496;20503287;18577758;16712791;20224257;2834384;17192395;22939812;21442287;22101183;21900206;22740477;22916037 5473 AAB46877;P02775 ABBA01022994;AC097709;AF349466;AK312166;AMYH01014303;BC028217;BQ447470;BX443846;CB112845;CH471057;CR456805;DA419455;M54995;NM_002704 AAA62836;AAB46877;AAH28217;AAK29642;AAY41004;ABM81946;ABM85126;BAG35100;CAG33086;EAX05695;NP_002695;P02775 Hs.2164 1647539;1690968;5125362 SHGC-12412;SHGC-50812;SHGC4-129 B-TG1;Beta-TG;CTAP-III;CTAP3;CTAPIII;CXCL7;LA-PF4;LDGF;MDGF;NAP-2;PBP;SCAR10;SCYB7;TC1;TC2;TGB;TGB1;THBGB;THBGB1 C-X-C motif chemokine 7;CXC chemokine ligand 7;OTTHUMP00000160477;beta-thromboglobulin;connective tissue-activating peptide III;leukocyte-derived growth factor;low-affinity platelet factor IV;macrophage-derived growth factor;neutrophil-activating peptide 2;neutrophil-activating peptide-2;platelet basic protein;pro-platelet basic protein;small inducible cytokine B7;small inducible cytokine subfamily B, member 7;small-inducible cytokine B7;thrombocidin 1;thrombocidin 2;thromboglobulin, beta-1 APPROVED protein-coding 9240 07171 121010 REVIEWED 1345126 PPBPP2 pro-platelet basic protein pseudogene 2 4 4 4 q13.3 72279845 72281206 - 75139075 75139395 - 74919755 74921116 - 1580863;6480464 12477932;7887923;15489334;15815621 10895 ABBA01022994;AC097709;AMYH01014303;BC132938;BC132940;L10403;NR_026769 AAA68277;AAY41007 Hs.3134 1670015;1774225;2156807 G29828;SHGC-67405;STS-L10403 PPBPL2;SPBPBP APPROVED pseudo ENSG00000248848 16981 611591 VALIDATED 6481352 PPEF1-AS1 PPEF1 antisense RNA 1 100874004 Z94056 APPROVED miscrna 40463 733613 PPAT phosphoribosyl pyrophosphate amidotransferase The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011] 4 4 4 q12 54765911 54808216 - 56954285 56996602 - 57259528 57301802 - 1580863;5135035;5135488;5135016;5135050;6480464;6907045 6327016;20005278;2451505;476627 8106516;15489334;12477932;10597272;10593947;9108165;8380692;8125298;1574589;752480;16344560;22863883;23184937;22939629;16196087;21139048;21890473;21906983;21963094;22318606;22505724 5471 A8K4H7;D6RCC8;D6RE15;Q06203;Q59G63 AB209246;ABBA01003424;ABBA01003425;AC068620;AK222759;AK290942;AK312297;AMYH01014194;BC004200;CH471057;D13757;DB039655;NM_002703;U00238;U00239 AAC27345;AAH04200;ABM84410;ABM87409;BAA02903;BAD92483;BAD96479;BAF83631;BAG35224;EAX05487;EAX05488;NP_002694;Q06203 Hs.331420 1680503;1858321;2131044;2184564 D4S3143;RH70521;STS-U00239;WI-20631 ATASE;GPAT;PRAT OTTHUMP00000159062;amidophosphoribosyltransferase;glutamine PRPP amidotransferase;glutamine phosphoribosylpyrophosphatate amidotransferase;glutamine phosphoribosylpyrophosphate amidotransferase APPROVED protein-coding ENSG00000128059 9238 01402 172450 REVIEWED 1605355 PPCDC phosphopantothenoylcysteine decarboxylase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008] 15 15 15 q24.2 52266900 52294041 + 73102980 73130120 + 75315927 75343067 + 6480464;6907045 15581364;15489334;14702039;14501115;12975309;12477932;11923312;21490707;16169070 60490 H3BPW5;H3BQB0;H3BRQ0;H3BSE3;H3BU34;H3BU63;Q96CD2 ABBA01060512;AC015720;AF182419;AK027491;AMYH01006798;AY358848;BC005877;BC014409;BF243417;CH471136;NM_021823 AAG14955;AAH14409;AAQ89207;ABM83135;ABM86331;BAB55151;EAW99275;EAW99276;NP_068595;Q96CD2 Hs.458922 1697056;2191603;2219920 MARC_27456-27457:1034793104:3;MDS018__6300;RH102007 FLJ14585;MDS018 OTTHUMP00000183485;PPC-DC;coaC;phosphopantothenoylcysteine decarboxylase APPROVED protein-coding ENSG00000138621 28107 14377 609854 VALIDATED 1606579 PPEF1 protein phosphatase, EF-hand calcium binding domain 1 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008] X X X p22 22829137 22966124 + 18618966 18755956 + 18709045 18846035 + 6480464 9215685;15772651;15489334;14759258;12665801;12477932;12051765;11713293;10617768;9430683;9326663;22292511 5475 B7Z6R7;C9JY08;F8W7X9;F8WC69;H7C592;O14829 ABBA01071672;ABBA01071673;ABBA01071674;ABBA01071675;ABBA01071676;ABBA01071677;ABBA01071678;ABBA01071679;ABBA01071680;ABBA01071681;ABBA01071682;ABBA01071683;ABBA01071684;ABBA01071685;ABBA01071686;ABBA01071687;ABBA01071688;ABBA01071689;ABBA01071690;ABBA01071691;ABBA01071692;AF023455;AF027977;AK290463;AK292235;AK295504;AK300815;AK315809;AL096700;AMYH01022122;BC036026;CH471074;NG_012519;NM_006240;NM_152224;NM_152226;X97867;Z94056 AAB82795;AAC05825;AAH36026;ACE86649;ACE87331;BAF83152;BAF84924;BAF98700;BAH12089;BAH13353;CAA66461;EAW98943;EAW98944;EAW98945;EAW98946;EAW98947;EAW98948;EAW98949;NP_006231;NP_689410;NP_689412;O14829 Hs.211589 1335057;1702640;2123154;2219550;7186042 DXS7765;DXS8001;DXS999;PPEF1__5756 PP7;PPEF;PPP7C;PPP7CA OTTHUMP00000023005;protein phosphatase 7, catalytic subunit, alpha isozyme;protein phosphatase with EF calcium-binding domain;protein phosphatase, serine/threonine type, with EF-hands;serine/threonine protein phosphatase 7;serine/threonine-protein phosphatase 7;serine/threonine-protein phosphatase with EF-hands 1 APPROVED protein-coding ENSG00000086717 9243 02118 300109 REVIEWED 1321693 PPDPF pancreatic progenitor cell differentiation and proliferation factor 20 20 20 q13.33 58832490 58833881 + 61622577 61623968 + 62152133 62153524 + 6480464 15489334;12477932;11780052;20972266;21906983;22505724 79144 Q9H3Y8 ABBA01021402;AK024699;AL121829;AMYH01012082;BC002531;BC056416;CH471077;NM_024299 AAH02531;AAH56416;EAW75264;EAW75265;NP_077275;Q9H3Y8 Hs.79625 1681261;1685153 RH66586;RH78083 C20orf149;FLJ21046;MGC2479;dJ697K14.9;exdpf OTTHUMP00000031562;OTTHUMP00000031563;exocrine differentiation and proliferation factor;pancreatic progenitor cell differentiation and proliferation factor;pancreatic progenitor cell differentiation and proliferation factor homolog APPROVED protein-coding ENSG00000125534 16142 12750 PROVISIONAL 1605955 PPCS phosphopantothenoylcysteine synthetase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008] 1 1 1 p34.2 41204112 41208024 + 42694760 42698673 + 42922173 42926086 + 6480464;6907045 16710414;15489334;14702039;12906824;12477932;11923312;19683078;21139048;21890473 79717 Q5VVM2;Q5VVM3;Q9HAB8 ABBA01023132;AK021900;AL445669;AMYH01000550;BC012383;BC062586;BC104938;BC106064;BC112015;CH471059;NM_001077447;NM_024664 AAI04939;AAI06065;AAI12016;BAB13931;EAX07158;NP_001070915;NP_078940;Q9HAB8 Hs.706662 1673587 SHGC-74722 FLJ11838;MGC117357;MGC138220;RP11-163G10.1 OTTHUMP00000008431;OTTHUMP00000008432;OTTHUMP00000008433;PPC synthetase;phosphopantothenate--cysteine ligase APPROVED protein-coding ENSG00000127125 25686 07760 609853 VALIDATED 1316080 PPEF2 protein phosphatase, EF-hand calcium binding domain 2 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008] 4 4 4 q21.1 74081428 74124167 - 77000049 77042705 - 76781025 76823681 - 1580863;6480464 9326663;12477932;12051765;11713293;20674765 5470 E7EPQ9;O14830 ABBA01063350;ABBA01063351;AC110615;AF023456;AF023457;AL079280;AMYH01014308;AMYH01014309;BC113379;BX648754;CH471057;NM_006239 AAB82796;AAB82797;AAI13380;AAI48515;EAX05752;EAX05753;EAX05754;EAX05755;NP_006230;O14830 Hs.290873 1335665;1338627;2128102;2146244 D4S2314;D4S2958;G16765;SHGC-67702 PPP7CB OTTHUMP00000219265;protein phosphatase 7, catalytic subunit, beta isozyme;protein phosphatase with EF hands 2;serine/threonine-protein phosphatase with EF-hands 2 APPROVED protein-coding ENSG00000156194 9244 03771 602256 REVIEWED 1353235 PPH1 primary pulmonary hypertension 1 7240710 9193425 5477 9252 178600;265450 1343487 PPH2 primary pulmonary hypertension 2 89873 15733 615342 1312803 PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein is most closely related to PPFIA1, a liprin family member known to interact with the protein phosphatase LAR. The expression of this gene is found to be downregulated by androgens in a prostate cancer cell line. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011] 12 12 12 q21.31 81321211 81820889 - 80177487 80677240 - 81652045 82153109 - 1580863;6480464 12923177;9624153;12629171;12477932;12119554;11931740;18782753;20379614;16344560;8889548;21855798;23422819;22558309;17043677;21906983;22885689;22505724 8499 E7ETG6;F8VU88;F8VWG6;F8VWR9;F8VYK7;F8W1Y8;G3V200;H0YH95;H0YHJ4;H0YHK3;H0YIJ4;J3KNM3;Q4LE62 AB210009;ABBA01053481;ABBA01053482;ABBA01053483;ABBA01053484;ABBA01053485;ABBA01053486;AC011316;AC069228;AC078920;AC079363;AC079408;AF034799;AK123372;AK126971;AK294505;AK296380;AK297372;AK299853;AK302658;AK307524;AL157453;AL713132;AMYH01004615;AMYH01004616;AMYH01004617;AMYH01004618;AMYH01004619;AMYH01004620;AW014561;BC104912;BC143485;BM661844;BM689808;BQ027545;BU568524;CB051855;CH471054;DA329958;DA368637;DA499362;DA533482;DA687865;DB083201;DC321269;DC322478;EL947964;NM_001220473;NM_001220474;NM_001220475;NM_001220476;NM_001220477;NM_001220478;NM_001220479;NM_001220480;NM_003625;NR_038265 AAC26100;AAI04913;AAI43486;BAE06091;BAG53897;BAG54412;BAH11792;BAH12335;BAH12564;BAH13149;BAH13771;EAW97374;EAW97375;EAW97376;EAW97377;NP_001207402;NP_001207403;NP_001207404;NP_001207405;NP_001207406;NP_001207407;NP_001207408;NP_001207409;NP_003616;O75334 Hs.506216;Hs.737103 1339889;1652335;1654499;1691344;1700370;1708768;1709728;1713641;1716255;1720637;1739749;1767469;1774525;1777392;1779440;1782608;1852923;2114002;2121524;2169176;2171754;7187558 1804;AB055332;D12S106;D12S1434;D12S1525E;G31137;G59128;RH103805;RH11207;RH11321;RH120701;RH121155;RH91097;SHGC-143022;SHGC-153422;SHGC-30797;SHGC-36062;SHGC-37423;SHGC-44255;SHGC-81616;SHGC-84675 FLJ41378;MGC132572 OTTHUMP00000243268;OTTHUMP00000243269;OTTHUMP00000243270;OTTHUMP00000243271;OTTHUMP00000243273;OTTHUMP00000243274;OTTHUMP00000243275;OTTHUMP00000243276;OTTHUMP00000243277;PTPRF-interacting protein alpha-2;liprin-alpha 2;liprin-alpha-2;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2 APPROVED protein-coding ENSG00000139220 9246 04392 603143 REVIEWED 737078 PPFIA4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008] 1 1 1 q32.1 176149565 176177122 + 201286934 201314487 + 203020311 203047864 + 1580863;6480464 12923177;9624153;16713569;14702039;14612982;12629171;12477932;10048485;11931740;14623284;20599943;17474147;19536175;21829649;21139048;19013515 8497 B1APN9;B1N949;B3KN22;J3KQI5;M0QZB5;M0R219;O75335 AB020704;ABBA01027486;ABBA01027487;AC105940;AF034801;AI341415;AK023365;AK124535;AK126185;AK126624;AK295757;AL451082;AMYH01001653;AMYH01001654;BC132923;BC132925;BC144262;CH471067;EF428334;NM_015053 AAC26102;AAI32924;AAI32926;AAI44263;ABR09268;BAA74920;BAC86617;BAG51184;BAG54050;BAG58587;EAW91459;EAW91460;EAW91461;EAW91462;NP_055868;O75335 Hs.153648 1762265;2187265 SHGC-146122;SHGC-76136 Liprin-alpha4;OTTHUMP00000039089;PTPRF-interacting protein alpha-4;liprin alpha4;liprin-alpha-4;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-4 APPROVED protein-coding ENSG00000143847 9248 16012 603145 VALIDATED 1319111 PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 q13.3 69794471 69908150 + 70116806 70230607 + 1580863;6480464 12923177;7796809;18196592;17419996;17081983;16713569;16313174;16189514;15489334;15324660;14702039;12629171;12477932;11931740;9624153;8524829;21145461;16973615;17363573;18782753;19060904;19690048;19787783;20096687;10737800;21157931;19156129;22072677;21139048;22295056;22863883;22505724 8500 B3KVS8;E9PID5;E9PJZ7;E9PPF6;H0YCJ0;H0YCK6;H0YD39;H0YD72;H0YDW2;H0YDZ8;H0YEF9;H0YEK0;H0YEN7;H0YF15;Q13136 AB209314;ABBA01010305;ABBA01010306;ABBA01010307;ABBA01010308;ABBA01010309;ABBA01010310;AK123331;AK124621;AMYH01003777;AMYH01003778;AMYH01003779;AP000487;AP002336;AW163189;BC034046;BF352121;BX648037;CH471076;CK902590;D49354;NM_003626;NM_177423;NR_045286;U22815;U22816 AAC50172;AAC50173;AAH34046;ABM83327;BAA08353;BAD92551;BAG53890;BAG54059;EAW74763;EAW74764;EAW74765;NP_003617;NP_803172;Q13136 Hs.530749;Hs.708791 1758249;1855173;2149029;2158924;2170797;5014627;5111036 D11S1223;SGC36985;SHGC-147791;SHGC-35519;SHGC-36533;STS-H97922;STS-N35019 FLJ41337;FLJ42630;FLJ43474;LIP.1;LIP1;LIPRIN;MGC26800 LAR-interacting protein 1;LIP-1;Liprin-alpha1;OTTHUMP00000235552;OTTHUMP00000235553;PTPRF-interacting protein alpha-1;liprin-alpha-1;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1 APPROVED protein-coding ENSG00000131626 9245 11451 611054 VALIDATED 2301493 PPIAL4B peptidylprolyl isomerase A (cyclophilin A)-like 4B 1 1 q21.1 143072096 143075949 - 144363462 144364246 - 6480464 11948409;16710414 653505 Q9Y536 AC242842;AMYH01000981;BX248398;NM_001143883 CAI18814;NP_001137355;Q9Y536 Hs.631792 5023525 PMC262691P6 COAS-2;PPIAL4A;PPIAL4C OTTHUMP00000015510;PPIase A-like 4A;chromosome 1-amplified sequence 2;cyclophilin homolog overexpressed in liver cancer;peptidyl-prolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl isomerase A (cyclophilin A)-like 4B protein-coding ENSG00000255854 33994 INFERRED 1606439 PPIAL4A peptidylprolyl isomerase A (cyclophilin A)-like 4A 1 1 q21.2 146421384 146422043 - 147954760 147955419 - 6480464 14961574;11948409;22939629 164022 Q9Y536 AB084917;AC239811;AL022240;AMYH01001373;NM_178230 A2BFH1;AAI72332;BAB92073;CAB46877;NP_839944;Q9Y536 Hs.573713 COAS2;MGC163248;MGC163250;PPIAL4;PPIAL4B;PPIAL4C;PPIAL4D;PPIAL4G COAS-2;OTTHUMP00000069014;PPIase A-like 4A;PPIase A-like 4B;PPIase A-like 4G;chromosome 1 amplified sequence 2;chromosome 1-amplified sequence 2;cyclophilin homolog overexpressed in liver cancer;cyclophilin-LC (COAS2);peptidyl-prolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4;peptidylprolyl cis-trans isomerase A-like 4A;peptidylprolyl cis-trans isomerase A-like 4B;peptidylprolyl isomerase A (cyclophilin A)-like 4;peptidylprolyl isomerase A-like 4A protein-coding ENSG00000255963 24369 09781 608608 PROVISIONAL 2301492 PPIAL4C peptidylprolyl isomerase A (cyclophilin A)-like 4C 1 1 q21.2 147819281 147823134 + 149553003 149553787 + 653598 Q9Y536 AL451058;AMYH01001373;NM_001135789 CAH71953;NP_001129261;Q9Y536 Hs.717306 5023525 PMC262691P6 COAS-2;PPIAL4A;PPIAL4B OTTHUMP00000015826;PPIase A-like 4A;chromosome 1-amplified sequence 2;cyclophilin homolog overexpressed in liver cancer;peptidyl-prolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl cis-trans isomerase A-like 4A/B/C;peptidylprolyl isomerase A (cyclophilin A)-like 4C protein-coding ENSG00000198161 33995 INFERRED 2301486 PPIAL4D peptidylprolyl isomerase A (cyclophilin A)-like 4D 1 q21.1 146568497 146569183 - 645142 F5H284 BX283067;NG_005555 5023525 PMC262691P6 pseudo 645142 2301495 PPIAL4E peptidylprolyl isomerase A (cyclophilin A)-like 4E 1 1 q21.2 146910277 146911419 + 148644011 148644795 + 22320715 730262 F5H284 AC246785;AL954711;AMYH01001371;NM_001144032 NP_001137504 Hs.719884 5023525 PMC262691P6 COAS2 peptidylprolyl isomerase A (cyclophilin A)-like 4E protein-coding 33997 608608 INFERRED 2301101 PPIAL4F peptidylprolyl isomerase A (cyclophilin A)-like 4F 1 1 q21.2 147072288 147073423 + 148806015 148806799 + 728945 F5H284 AC253578;AL592492;AMYH01001090;FP700107;NM_001164262 NP_001157734 Hs.723812 5023525 PMC262691P6 cyclophilin-LC (COAS2) pseudogene;peptidylprolyl isomerase A (cyclophilin A)-like 4F protein-coding 33999 INFERRED 1353405 PPIAP1 peptidylprolyl isomerase A (cyclophilin A), pseudogene 1 21 21 q21.1 21122098 21122856 + 22200236 22200982 - 10830953 100288185 ABBA01057158;AMYH01012162;AP000957;NG_000914 PPIAP APPROVED pseudo 9254 INFERRED 1350778 PPIAP10 peptidylprolyl isomerase A (cyclophilin A) pseudogene 10 20 20 20 q13.2 48742599 48743044 + 51471160 51471605 + 52037753 52038198 + 9671742 140913 ABBA01052843;AL354993;AMYH01011991;NG_001008 CRP;PPIAL2;PPIP10;dJ823G15.1 peptidylprolyl isomerase (cyclophilin) pseudogene 10 pseudo 9264 REVIEWED 1349661 PPIAP11 peptidylprolyl isomerase A (cyclophilin A) pseudogene 11 5 5 5 q14.1 77209137 77210016 - 81340925 81341804 - 81305169 81306048 - 2197089;19807924 5483 ABBA01062065;AC114969;AMYH01015449;NG_001177;X52856 PPIP1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 pseudo 9263 INFERRED 1347945 PPIAP13 peptidylprolyl isomerase A (cyclophilin A) pseudogene 13 10 10 10 q22.2 70137006 70137857 - 76518757 76519608 - 76848751 76849602 - 2197089 5485 ABBA01020266;AL392111;AMYH01002837;NG_005167;X52853 PPIP3 peptidylprolyl isomerase (cyclophilin) pseudogene 3 pseudo 9266 INFERRED 1345393 PPIAP14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 14 18 18 18 p11.31 4886949 4887766 - 4992511 4993328 - 5002511 5003328 - 2197089 5486 ABBA01049875;AMYH01008783;AP005138;NG_005168;X52854 PPIP4 peptidylprolyl isomerase (cyclophilin) pseudogene 4 pseudo 9267 INFERRED 1353250 PPIAP15 peptidylprolyl isomerase A (cyclophilin A) pseudogene 15 3 3 3 q13.13 107588913 107589712 - 110672617 110673416 - 109189927 109190726 - 2197089 5487 ABBA01061688;AC092905;AMYH01013386;NG_005169;X52855 PPIP5 peptidylprolyl isomerase (cyclophilin) pseudogene 5 pseudo 9268 INFERRED 1350563 PPIAP16 peptidylprolyl isomerase A (cyclophilin A) pseudogene 16 3 3 3 p14.3 57941322 57942188 + 57902449 57903315 + 57927409 57928275 + 2197089 5488 ABBA01024399;AC099777;AMYH01013227;NG_005170;X52857 PPIP6 peptidylprolyl isomerase (cyclophilin) pseudogene 6 pseudo 9269 INFERRED 1312318 PPFIA3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 46489883 46521507 + 54314475 54346095 + 49622663 49654283 + 1580863;6480464 12923177;15489334;14702039;12477932;12168954;9734811;9624153;18782753;17474147;22505724;16344560 8541 B4DEU8;O75145;R4GN36;R4GNF1 AB014554;ABBA01032938;ABBA01032939;ABBA01032940;ABBA01032941;AC008687;AC008891;AC096864;AF034800;AI346749;AK001525;AK023850;AK025972;AK289757;AK293798;AK308483;AMYH01009909;AMYH01009910;BC021255;BC101518;BC101520;BC143470;BU632015;BX111585;CH471177;DA236900;NM_003660;NR_103842 AAC26101;AAH21255;AAI01519;AAI01521;BAA31629;BAB14702;BAF82446;BAG57209;EAW52457;NP_003651;O75145 Hs.413748 1337741;1741683 D1S2695;GDB:182000 KIAA0654;LPNA3;MGC126567;MGC126569 PTPRF-interacting protein alpha-3;liprin;liprin-alpha 3;liprin-alpha-3;protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3;protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3 APPROVED protein-coding ENSG00000177380 9247 04393 603144 REVIEWED 1625850 PPIAP18 peptidylprolyl isomerase A (cyclophilin A) pseudogene 18 3 3 3 p21.32 44852005 44854165 + 44889043 44891203 + 44914039 44916199 + 9721214 729673 O75320 ABBA01024735;AC098649;AF026688;AMYH01013125;NG_006115 AAC34969 pseudo 32454 INFERRED 1352866 PPIAP17 peptidylprolyl isomerase A (cyclophilin A) pseudogene 17 20 20 20 p12.1 16279399 16280184 - 16152295 16153280 - 16204395 16205180 - 170540 ABBA01054006;AL161941;AMYH01011735;NG_001049 PPIP11;bA494B22.1 peptidylprolyl isomerase (cyclophilin) pseudogene 11 pseudo 16334 INFERRED 1626556 PPIAP19 peptidylprolyl isomerase A (cyclophilin A) pseudogene 19 10 10 10 q25.3 110179102 110179593 - 116439739 116517619 - 116449902 116450393 - 390006 ABBA01062975;AL137025;AL354873;AMYH01003089;NG_009701 bA108K1.2 pseudo 31663 INFERRED 1343959 PPIAP2 peptidylprolyl isomerase A (cyclophilin A) pseudogene 2 20 20 20 p11.21 25422450 25423186 - 25296808 25297502 - 25348708 25349444 - 170537 ABBA01048724;AL353812;AMYH01011788;NG_001048;NG_028119 bA384D7.2 pseudo 16542 INFERRED 4142602 PPIAP20 peptidylprolyl isomerase A (cyclophilin A) pseudogene 20 19 p13.2 12618943 12619077 + 100500737 ABBA01029793;AC008758;AMYH01009492;NG_027657 pseudo 38037 INFERRED 1342622 PPIAP21 peptidylprolyl isomerase A (cyclophilin A) pseudogene 21 20 20 20 q12 38568098 38568812 + 41292701 41293615 + 41859388 41860102 + 170536 ABBA01052609;AL021395;AMYH01011923;NG_001566 PPIAL;dJ269M15.1 APPROVED pseudo 16246 INFERRED 4889170 PPIAP23 peptidylprolyl isomerase A (cyclophilin A) pseudogene 23 13 13 13 q31.3 72771306 72771802 - 90722336 90722832 - 91924335 91924831 - 390419 ABBA01027237;AL353734;AMYH01005286;NG_011394 pseudo 39268 INFERRED 4889377 PPIAP24 peptidylprolyl isomerase A (cyclophilin A) pseudogene 24 13 13 13 q33.3 88360071 88361009 - 106313840 106314778 - 107515839 107516777 - 122335 ABBA01027042;AL162574;AMYH01005358;NG_005155 pseudo 39269 INFERRED 4889378 PPIAP25 peptidylprolyl isomerase A (cyclophilin A) pseudogene 25 13 13 13 q14.13 27064900 27066396 + 44908257 44908798 + 46010291 46011787 + 647085 ABBA01050975;AL606514;AMYH01005091;NG_011429 pseudo 39270 INFERRED 1602268 PPIAP22 peptidylprolyl isomerase A (cyclophilin A) pseudogene 22 21 21 21 q21.1 5405442 5405939 + 19151968 19152465 + 20230097 20230594 + 10830953 653214 ABBA01057138;AMYH01012153;AP001538;AP001674;NG_005752 1704558 SHGC-83085 PPIA3L;PPIAL3 APPROVED pseudo 17236 INFERRED 6480995 PPIAP27 peptidylprolyl isomerase A (cyclophilin A) pseudogene 27 13 21530315 21530576 - 100874405 ABBA01068594;AL356285;AMYH01004952;NG_032526 pseudo 42646 INFERRED 4889389 PPIAP26 peptidylprolyl isomerase A (cyclophilin A) pseudogene 26 13 13 13 q14.3 34380506 34381548 + 52292633 52293154 + 53394621 53395663 + 21906983 121981 ABBA01037066;AL139085;NG_023035 pseudo 39271 INFERRED 5508292 PPIAP29 peptidylprolyl isomerase A (cyclophilin A) pseudogene 29 6 6 p22.3 25084584 25085394 + 24976605 24977415 + 20418484;2197089 134997 ABBA01066540;AL160400;AMYH01016156;NG_007346 pseudo 43021 VALIDATED 5489267 PPIAP28 peptidylprolyl isomerase A (cyclophilin A) pseudogene 28 13 13 q12.11 19651203 19651601 - 20753203 20753601 - 390378 ABBA01068576;AL138688;AMYH01004944;NG_011400 pseudo 39902 INFERRED 1345438 PPIAP3 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 20 20 20 q11.23 32865705 32866209 + 35591755 35592459 + 36158442 36158946 + 170539 ABBA01006621;AL109614;AMYH01011898;NG_001014 bA425M5.2 pseudo 16545 INFERRED 7205334 PPIAP31 peptidylprolyl isomerase A (cyclophilin A) pseudogene 31 10 p11.22 32477251 32477745 - 439953 ABBA01033387;AL445071;AMYH01002223;NG_030116 pseudo 44962 INFERRED 1353009 PPIAP4 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 14 14 14 q21.1 19442021 19442754 + 38647072 38647985 + 39577399 39578132 + 122552 ABBA01061545;AL109628;AMYH01005682;NG_002483 pseudo 19935 INFERRED 1348915 PPIAP5 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 14 14 14 q23.1 39697925 39698499 + 58717796 58718716 + 59648288 59648862 + 122842 ABBA01018269;AL359219;AMYH01005765;NG_002484 pseudo 20027 INFERRED 1347833 PPIAP6 peptidylprolyl isomerase A (cyclophilin A) pseudogene 6 14 14 14 q24.1 48947051 48947893 - 67957922 67958764 - 68888169 68889011 - 2197089 319128 ABBA01023694;AL122013;AMYH01005819;NG_002506;NG_023267;X52852 PPIAP12;PPIP2 pseudo 20028 INFERRED 1352715 PPIAP7 peptidylprolyl isomerase A (cyclophilin A) pseudogene 7 1 1 1 p21.2 99998020 99998889 - 101508770 101509639 - 101736182 101737051 - 2197089 5489 ABBA01045430;AL109741;AMYH01000828;NG_005171;X52858 PPIP7 peptidylprolyl isomerase (cyclophilin) pseudogene 7 pseudo 9270 INFERRED 1343272 PPIAP8 peptidylprolyl isomerase A (cyclophilin A) pseudogene 8 12 12 12 q23.1 98649004 98649696 - 97508422 97509114 - 98984291 98984983 - 341457 ABBA01053284;AC013283;AMYH01004691;NG_006121;NG_011702 PPIP8 peptidylprolyl isomerase (cyclophilin) pseudogene 8 pseudo 9271 INFERRED 1345892 PPIAP9 peptidylprolyl isomerase A (cyclophilin A) pseudogene 9 6 6 6 p21.1 33084900 33086426 - 31594633 31596158 - 31486754 31488108 - 9689108;8824804;21912425 5491 ABBA01038079;AC006046;AL662847;AL663061;AMYH01016217;BX001040;BX005439;BX927320;CR753820;CR753864;CT009531;NG_001025 PPIP9 peptidylprolyl isomerase (cyclophilin) pseudogene 9 pseudo 9272 INFERRED 1316733 PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 11 11 11 p15.4 7654131 7791435 + 7491626 7631558 + 7534996 7674996 + 1580863;6480464 18029348;9624153;16344560;16189514;15489334;14702039;12477932;15778465;18482256;20095854;20379614;22328529;21462929;21832049;21207424 8495 E9PI79;E9PIK8;E9PJA0;E9PK17;E9PMH3;E9PMN3;E9PP16;H0YDJ2;H0YDM0;H0YET1;Q8ND30 ABBA01028680;ABBA01028681;AC104237;AC107884;AF034803;AK001131;AK025337;AK097449;AK293669;AK294554;AK296718;AK301978;AK308398;AK311048;AL834426;AMYH01003370;BC021026;BC021714;BC031865;BG720018;CH471064;CR749258;DA339729;DA631374;DB243263;DC345713;DC346488;NM_001256568;NM_001256569;NM_003621 AAC26104;AAH21714;ABM82556;ABM85746;BAG50858;BAH11563;BAH11806;BAH12419;BAH13599;CAD39087;CAH18114;EAW68652;EAW68653;EAW68654;NP_001243497;NP_001243498;NP_003612;Q8ND30 Hs.655714;Hs.740974 1703668;1704500;1711030;1712202;1714439;1761927;1770768;1780252;1782286;2117076;2156222;2186839 A004U29;D11S1208;D11S4660;G54152;RH120212;RH45476;SHGC-112441;SHGC-145860;SHGC-154807;SHGC-78819;SHGC-82882;SHGC-83011 Cclp1;DKFZp781K06126;MGC42541 OTTHUMP00000230467;OTTHUMP00000230496;OTTHUMP00000230497;OTTHUMP00000230498;PTPRF-interacting protein-binding protein 2;liprin-beta-2;protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2 APPROVED protein-coding ENSG00000166387 9250 04391 603142 REVIEWED 1320664 PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 12 12 12 p12.1 32822643 32994086 + 27568312 27739763 + 27677045 27848497 + 6480464 17353931;9624153;18029348;17081983;15489334;15324660;12477932;12168954;11836260;10574462;15778465;19965622;20379614;21855798;21430068;19531213;15161933;21139048;21906983;19322201;22952844 8496 F5GZP6;F5H0E0;F5H495;F5H6Q7;F5H7K5;H0YFE4;H0YGH8;Q86W92 AB033056;AB049149;ABBA01068049;AC009509;AC068794;AC087257;AF034802;AJ276680;AK000807;AK294267;AK314350;AMYH01004351;BC001560;BC022873;BC046159;BC050281;BM272389;BQ777042;BX648761;CA442440;CH471094;NM_001198915;NM_001198916;NM_003622;NM_177444 AAC26103;AAH22873;AAH46159;AAH50281;BAA86544;BAB39690;BAG57559;CAB77544;EAW96558;EAW96559;EAW96560;EAW96561;EAW96562;NP_001185844;NP_001185845;NP_003613;NP_803193;Q86W92 Hs.172445 1680946;1725865;1726067;1726141;1726149;1761185;1764355;2141517;2181749;5015619;5017266;5021872;5022200;5109362 D11S3114;D12S2071;D17S1239;G62242;G62299;G62317;G62360;L18426;L18506;RH17453;RH93757;SHGC-145198;SHGC-147955;sY3084 L2;SGT2;hSGT2;hSgt2p OTTHUMP00000240409;OTTHUMP00000240410;OTTHUMP00000240411;OTTHUMP00000240412;OTTHUMP00000240413;OTTHUMP00000240414;PTPRF-interacting protein-binding protein 1;liprin related protein;liprin-beta 1;liprin-beta-1;protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1;protein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1 APPROVED protein-coding ENSG00000110841 9249 04390 603141 REVIEWED 1314694 PPHLN1 periphilin 1 The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 12 12 12 q12 41521768 41644263 + 41006214 41128689 + 42719947 42842422 + 1580863;6480464 17081983;16964243;16117785;15489334;15474462;15383276;14702039;12853457;12477932;12366696;12087473;11042152;16169070;19730898;17207965;20379614;16341674;21832049;22990118;18029348;21890473;21900206;19322201;21628590 51535 B7Z8L1;E9PAX8;F8VP48;F8VPY7;F8VRK2;F8VWU8;F8VXV7;F8W0Q9;F8W6A0;F8WF16;Q8NEY8 ABBA01031404;ABBA01031405;AC079601;AC079684;AF151040;AF151066;AK000186;AK055690;AK056622;AK124921;AK129910;AK299951;AK303612;AK303680;AK308022;AMYH01004405;AMYH01004406;AY039238;AY157850;BC015322;BC025306;BC039832;BC040449;BM995486;BQ081957;BX647697;CA444170;CF242917;CH471111;DC424443;NM_001143787;NM_001143788;NM_001143789;NM_016488;NM_201438;NM_201439;NM_201440;NM_201515;R89350 AAF36126;AAF36152;AAH25306;AAH39832;AAK68657;AAO16497;ADQ32990;BAA90996;BAB70985;BAH13181;BAH13997;BAH14015;EAW57845;EAW57846;EAW57847;EAW57848;EAW57849;EAW57850;EAW57851;EAW57852;EAW57853;NP_001137259;NP_001137260;NP_001137261;NP_057572;NP_958846;NP_958847;NP_958848;NP_958923;Q8NEY8 Hs.444157 1341895;1660774;1669440;1684742;1719343;1746111;2109689;2153182;2184813;5014051;5015619;5017781;5021872;5022200;5037552 D11S3114;D12S1653;D8S2278;D8S2279;FXR1;G64643;L18426;PPHLN1_9733;RH123398;RH44661;RH80666;SHGC-64077;STS-W72641;WI-15798;sY3084 HSPC206;HSPC232;MGC48786 OTTHUMP00000241107;OTTHUMP00000241108;OTTHUMP00000241109;OTTHUMP00000241110;OTTHUMP00000241113;OTTHUMP00000241114;OTTHUMP00000241115;OTTHUMP00000241116;OTTHUMP00000241117;OTTHUMP00000241118;gastric cancer antigen Ga50;periphilin-1 APPROVED protein-coding ENSG00000134283 19369 10488 608150 REVIEWED 2301115 PPIAL4G peptidylprolyl isomerase A (cyclophilin A)-like 4G 1 1 q21.1 142555943 142559798 - 143767144 143767881 - 14702039;12477932 644591 A2BFH1 AK123006;AMYH01001035;BC130376;BC130378;BX284650;NM_001123068 A2BFH1;AAI30377;AAI30379;ADR82833;CAM26887;NP_001116540 Hs.534674 5023525;5120928 G16257;PMC262691P6 BX284650.5;COAS-2;FLJ16804;MGC163248;MGC163250;PPIAL4A COAS-2;OTTHUMP00000015496;PPIase A-like 4A;PPIase A-like 4G;chromosome 1-amplified sequence 2;peptidyl-prolyl cis-trans isomerase A-like 4G;peptidylprolyl cis-trans isomerase A-like 4;peptidylprolyl cis-trans isomerase A-like 4A;peptidylprolyl cis-trans isomerase A-like 4G protein-coding ENSG00000236334 33996 VALIDATED 7204470 PPIAP30 peptidylprolyl isomerase A (cyclophilin A) pseudogene 30 10 p13 15196721 15197346 - 12477932 100192204 ABBA01034594;AL590365;AMYH01002056;BC157831;NR_036506 AAI57832 Hs.714691 pseudo 44878 PROVISIONAL 3476416 PPIEL peptidylprolyl isomerase E-like pseudogene 1 1 1 p34.3 38269790 38307084 - 39760540 39797936 - 39987952 40025370 - 14702039;15146197;16344560;17471289 728448 Q8N214 ABBA01023207;ABBA01023208;AI075765;AK092606;AK093659;AL365277;AMYH01000522;AMYH01000523;DA168720;DA449721;NR_003929 BAC04213 Hs.472508 1678043;1686260;1686580;1711460;1729734;1733006;1854710;2151952;2175891;2220574;5015619;5020946;5020948;5022200;5022578;5037552 A001T47;D11S3114;D1S1374;D1S1423;D1S168;D1S2495;D20S1124;D8S2279;G35510;G49186;L17971;L18426;RH39552;RH76261;RH93165;UniSTS:485525 FLJ35287;FLJ36340;PPIEP1 APPROVED pseudo 33195 VALIDATED 731273 PPIA peptidylprolyl isomerase A (cyclophilin A) This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008] 7 7 p13 44802766 44809241 + 44836241 44842716 + 4890972;6480464 20626060 20553309;2644542;11250896;12091904;2179953;16291214;7590732;1560526;15098018;16780588;11943775;19386705;19297321;19254360;19205352;19185003;19092998;19073742;18829531;18673375;18421009;18417509;18385230;18321308;17991743;17927958;17919644;17897064;17678621;17590083;17522232;17520256;17449029;17038183;16916647;16901758;20946244;7821789;16885564;21145461;21319273;16703398;16584201;16501094;16275650;16273344;16189514;16169070;16097034;15952740;15845542;15772070;15680395;15596813;15489334;15388255;15358143;15311922;15229879;15147195;15130913;15111303;15028279;14716299;14526201;12932580;12897779;12881523;12881522;12859974;12810862;12788626;12730686;12707923;12668872;12665801;12634401;12547912;12477932;12477877;12357034;12218175;12210730;12210402;12208976;12207006;12181673;12167617;12032547;12009870;11929983;11859194;11836403;11830645;11790298;11581426;11379967;11337467;11312344;11058892;10794694;10704338;10208939;10208938;10096576;10026140;9875332;9769216;9658084;9636359;9573245;9557731;9420228;9385632;9380739;9337866;9305737;9299338;9261445;9261419;9223641;9129655;9032343;9016720;8980234;8980222;8976380;8830660;8806510;8764025;8709190;8676452;8676442;8662505;8659916;8652511;8648689;8648687;8513493;8421501;8421500;8263916;7969495;7969494;7884893;7829860;7657784;7572395;7543589;3297675;2197089;2001362;1989998;1946361;1896075;1715516;1602151;10581250;16815734;9546659;16571786;16120388;16785541;16643975;16203999;16199531;7541038;15688292;15782160;20454998;20471030;20796224;21441138;14630798;18704644;19380579;19503092;19584157;19656870;19680534;19741300;19758589;19789967;19865066;19956261;20070121;20107018;20139366;20381070;20702630;21245143;12767222;22944661;23106098;23152499;22863883;22990118;19932913;21832049;22677509;22930659;22939629;22814107;23322171;21489988;20000738;16196087;23558220;22238232;21151833;21585617;21871105;20360068;21081666;21839816;22256739;18781797;21667159;21956400;21987572;22178446;23031673;20972266;21139048;21890473;21906983;21963094;22421161;14993672;20849852;22205628;22185200;14505569;17620599;22446626;19322201;21464540;22492959;22580540;19338310;23332074;23455922;22902549;19738201;22623428;22810585;23000965;22996014;23097435;16027165;17170453;17267487;17565686;17609268;17715216;17804494;17967060;18191978;18212100;18367226;18514189;18678385;18789977;18829762;18991615;19020832;19056509;19262010;19275580;19282959;19328002;19457995;19625401;19639585;19694548;19825046;19857522;20012523;20012529;20219923;20364129;20708627;20721640;20862313;20920334;20956011;20962083;21169362;21568899;21718636;21738476;21743322;21853274;22004035;22174692;22301145;22342556;22505724;22701176;22797925;22855686;22874433;22944692;23022198 5478 C9J5S7;E5RIZ5;F8WE65;Q567Q0;Q9UC61 AACC02000110;AB451307;AB451438;ABBA01058234;AC013436;AK026569;AK130101;AK290085;AK290851;AK293003;AK297340;AK316564;AMYH01017214;AU100120;AY739283;BC000689;BC003026;BC005320;BC005982;BC007104;BC013915;BC018843;BC037419;BC073992;BC093076;BC106030;BC137057;BC137058;BM806224;BM909285;BU786475;BX347265;BX408703;CD014106;CH236960;CR456707;D28351;NG_029697;NM_021130;X52851;Y00052 AAH00689;AAH03026;AAH05320;AAH05982;AAH07104;AAH13915;AAH73992;AAH93076;AAI06031;AAI37058;AAI37059;AAU13906;ABM83551;ABM86791;BAA05717;BAF82774;BAF83540;BAF85692;BAG38153;BAG59794;BAG70121;BAG70252;CAA37039;CAA68264;CAG32988;NP_066953;P62937 Hs.356331 2116615;2164245;2164247;2185748;5023525;5023531;5126821 A006J31;G20876;PMC112625P1;PMC262691P6;PMC307696P1;PPIA;SHGC-56052 CYPA;CYPH;MGC117158;MGC12404;MGC23397 OTTHUMP00000159501;OTTHUMP00000208711;OTTHUMP00000208712;PPIase A;T cell cyclophilin;cyclophilin;cyclophilin A;cyclosporin A-binding protein;peptidyl-prolyl cis-trans isomerase A;peptidylprolyl isomerase a;rotamase A APPROVED protein-coding ENSG00000196262 9253 00457;17376 123840 REVIEWED 4143664 PPIGP1 peptidylprolyl isomerase G (cyclophilin G) pseudogene 1 5 5 5 q33.2 150948512 150950776 + 154851089 154853354 + 154870705 154873372 + 100131033 ABBA01026209;AC008725;AMYH01015734;NG_028955 pseudo 34231 INFERRED 1344607 PPIC peptidylprolyl isomerase C (cyclophilin C) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] 5 5 5 q23.2 118313549 118326899 - 122386977 122400324 - 122359078 122372425 - 1580863;6480464 1652374;16713569;15489334;12477932;10077627;9045699;8341703;8031755;7909608;1383094;19584346;17207965;22939629;21139048;19322201;21988832 5480 P45877 ABBA01068947;AC022116;AC106786;AK290321;AK304053;AMYH01015587;BC002678;BG721394;BU075157;BX472017;CB963241;CH471086;EF506885;NM_000943;S71018 AAB31350;AAH02678;ABO43038;ADQ32383;BAF83010;BAG64962;EAW48878;EAW48879;NP_000934;P45877 Hs.110364 1774926;1798006;5491800 PPIC;PPIC_2382;WI-16818 CYPC;MGC3673 OTTHUMP00000159172;PPIase C;cyclophilin C;parvulin;peptidyl-prolyl cis-trans isomerase C;rotamase C APPROVED protein-coding ENSG00000168938 9256 00459 123842 REVIEWED 1353678 PPIHP1 peptidylprolyl isomerase H (cyclophilin H) pseudogene 1 11 11 11 q23 109053600 109054333 - 111405380 111406522 - 111900386 111901118 - 246731 ABBA01039808;AMYH01004033;AP000907;AP002007;AY425814;NG_001586;NG_013342 2161443 STS-AA025365 pseudo 31355 INFERRED 1344032 PPIHP2 peptidylprolyl isomerase H (cyclophilin H) pseudogene 2 X X q23 113248958 113249705 + 112765709 112766456 + 404199 ABBA01043039;AC233289;AL030995;AMYH01022848;AY425815;NG_004860 pseudo 31356 INFERRED 732990 PPIB peptidylprolyl isomerase B (cyclophilin B) The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009] 15 15 q21-q22 62235067 62242407 - 64448014 64455354 - 1580863;6480464;6484113;7240710 16713569;15989969;15952740;15764595;15635413;15489334;14729611;12477932;12475965;12397072;11997457;11955071;11867726;11688976;10935542;10096576;10026140;9378502;9045699;9032343;8513493;8206968;8197205;7909608;7829860;7522304;2040592;1710767;1505219;1286667;12181673;9546659;17353931;2000394;1530944;19297321;19056847;18445599;18054915;17588944;17081065;7821789;21281954;20237142;21282188;16169070;19503092;19615732;19781681;19940140;20089953;20801878;21257749;21085665;22863883;15095401;21103663;23097496;23144461;22939629;21748762;20360068;21559518;22426501;21139048;21890473;21906983;21956701;17110338;21988832;23000965;22205628;17361185;21628590;22484812;21319273;22555451;22798670;18187620;22174317 5479 P23284 ABBA01038898;ABBA01038899;AC100840;AK291149;AK311074;AMYH01006707;AY962310;BC001125;BC008848;BC020800;BC032138;BQ931949;CH471082;CR456829;CS208051;D28465;HB867236;M60457;M60857;M63573;NG_012979;NM_000942 AAA35733;AAA36601;AAA52150;AAH01125;AAH08848;AAH20800;AAH32138;AAX44050;ABM83215;ABM86414;BAA05831;BAF83838;CAG33110;CAJ44951;CBF57604;EAW77669;NP_000933;P23284 Hs.434937 1682585;1699468;2127819;2171935;2191477;5024661;5037552;5491274 D15S1174;D8S2279;MARC_23668-23669:1029507689:1;MARC_7211-7212:992008294:1;RH103326;RH91503;RH98542;WI-9117 CYP-S1;CYPB;MGC14109;MGC2224;OI9;SCYLP OTTHUMP00000163975;PPIase B;S-cyclophilin;cyclophilin b;cyclophilin-like protein;peptidyl-prolyl cis-trans isomerase B;rotamase B APPROVED protein-coding ENSG00000166794 9255 00458 123841;259440 REVIEWED 1346840 PPIL1P1 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 2 2 2 p23.3 26224929 26226960 + 26238119 26240332 + 26384697 26386728 + 9847074 150947 ABBA01045175;AC011742;AMYH01010189;NG_001555 pseudo 20865 INFERRED 731455 PPIG peptidylprolyl isomerase G (cyclophilin G) 2 2 2 q31.1 164059707 164113097 + 170149096 170202500 + 170440850 170494254 + 1580863;6480464 9153302;19058789;17081983;15489334;15358154;15324660;15302935;15016823;12477932;8973360;21145461;18029348;21078624;22952844 9360 C9J679;C9JM79;C9JN15;C9JT64;E9PG73;Q13427 ABBA01014890;ABBA01014891;AC016772;AC093899;AK307552;AMYH01011249;BC001555;BC063711;BC073875;BC109373;BC111693;BG615922;CA418130;CH471058;NM_004792;U40763;X99717 AAB40347;AAH01555;AAH63711;AAH73875;AAI09374;AAI11694;AAY24119;AAY24233;CAA68053;EAX11266;EAX11267;EAX11268;EAX11269;EAX11270;NP_004783;Q13427 Hs.727580 1643626;1754511;1770567;2117297;2144704;2147457;2154609;2161116;2162151;2162153;5107580 A002C38;A008Q16;D2S192E;G19938;RH69911;RH78749;SHGC-132787;SHGC-33882;STS-M78264;WI-11413;WI-19649 CARS-Cyp;CYP;MGC133241;SCAF10;SRCyp CARS-cyclophilin;CASP10;Clk-associating RS-cyclophilin;OTTHUMP00000163061;OTTHUMP00000204761;OTTHUMP00000204762;OTTHUMP00000204763;OTTHUMP00000230047;OTTHUMP00000230048;PPIase G;SR-cyclophilin;SR-cyp;SR-related CTD-associated factor 10;cyclophilin G;matrin cyclophilin (matrin-cyp);peptidyl-prolyl cis-trans isomerase G;peptidyl-prolyl isomerase G (cyclophilin G);rotamase G protein-coding ENSG00000138398 14650 12083 606093 VALIDATED 1354243 PPIF peptidylprolyl isomerase F The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008] 10 10 q22-q23 80777226 80785096 + 81107220 81115090 + 1580863;6480464;6907045 1744118;15635413;15489334;15164054;12975309;12477932;12077116;11790298;10903836;10647893;9874241;20734064;20877624;20881960;17207965;12149099;16385451;18614807;20379614;21139048;21890473;19228691;22939629 10105 H0Y548;P30405;Q2YDB7;R4GN99 ABBA01020211;AK296669;AK312757;AL133481;AL391665;AL832720;AMYH01002859;AY358854;BC005020;BC013204;BC110299;BE791220;CH471083;M80254;NM_005729 AAA58434;AAH05020;AAI10300;AAQ89213;ACE87134;ADQ32373;BAG35623;BAG59266;EAW54645;EAW54646;EAW54647;EAW54648;NP_005720;P30405 Hs.381072 1698750;1709998;1714115;1782200;2115760;2120428;2120430;2187392;5015559 A006B47;D10S1558;D10S2355;G20689;RH102938;RH119664;SHGC-156301;SHGC-82268;WI-20925 CYP3;CyP-M;Cyp-D;CypD;FLJ90798;MGC117207 OTTHUMP00000019925;OTTHUMP00000019926;PPIase F;cyclophilin 3;cyclophilin D;cyclophilin F;mitochondrial cyclophilin;peptidyl-prolyl cis-trans isomerase F, mitochondrial;peptidyl-prolyl cis-trans isomerase, mitochondral;peptidyl-prolyl cis-trans isomerase, mitochondrial;rotamase F APPROVED protein-coding ENSG00000108179 9259 06839 604486 REVIEWED 1342741 PPID peptidylprolyl isomerase D The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008] 4 4 q31.3 159849729 159864002 - 159630279 159644552 - 1580699;1580863;4892102;6480464;6907045 16103352;18451092 7744028;9660753;19228691;18806802;18708059;18076075;16650407;16551620;15761153;15497503;15489334;15033717;14729611;12665801;12477932;12149099;12145316;11525244;9195923;8889548;8812478;8509368;1544925;16169070;9222609;22087225;14968112;16507998;19735641;20023700;20037589;20159966;18029348;20843780;20978188;21121808;22863883;11350175;19932913;21832049;22892127;9659917;22681779;21900206;22013052;19953087;21139048;21890473;21906983;21886157;19738201;21963094;23000965;23303179;20661446;22505724 5481 E5KN55;H0Y8J0;H0Y969;Q08752 ABBA01070208;AC107219;AK313929;AMYH01014644;AY714221;BC014893;BC030707;BG699755;BU726810;CH471056;CR542081;D63861;HQ205146;HQ205147;HQ205148;HQ205149;HQ205151;HQ205152;HQ205153;HQ205154;HQ205155;HQ205156;HQ205157;HQ205158;HQ205159;HQ205160;HQ205161;HQ205162;HQ205163;HQ205165;HQ205166;HQ205168;HQ205169;HQ205170;HQ205171;HQ205172;HQ205173;HQ205174;HQ205175;HQ205176;HQ205177;HQ205178;HQ205179;HQ205180;HQ205181;HQ205182;HQ205183;HQ205184;HQ205185;L11667;NM_005038 AAA35731;AAH14893;AAH30707;AAT97986;ABM82488;ABM85675;ADP90614;ADP90615;ADP90616;ADP90617;ADP90619;ADP90620;ADP90621;ADP90622;ADP90623;ADP90624;ADP90625;ADP90626;ADP90627;ADP90628;ADP90629;ADP90630;ADP90631;ADP90633;ADP90634;ADP90636;ADP90637;ADP90638;ADP90639;ADP90640;ADP90641;ADP90642;ADP90643;ADP90644;ADP90645;ADP90646;ADP90647;ADP90648;ADP90649;ADP90650;ADP90651;ADP90652;ADP90653;BAA09923;BAG36649;CAG46878;EAX04853;NP_005029;Q08752 Hs.183958 1339481;1772879;2145035;2150922;2190465;5019070;5037552;5118444 BARC0073;D11S3316;D4S2997;D8S2279;G44334;SHGC-67406;STS-L11667;STS-W94905 CYP-40;CYPD;MGC33096 40 kDa peptidyl-prolyl cis-trans isomerase D;OTTHUMP00000220869;PPIase D;cyclophilin 40;cyclophilin D;cyclophilin-40;cyclophilin-related protein;peptidyl-prolyl cis-trans isomerase D;rotamase D APPROVED protein-coding ENSG00000171497 9257 11875 601753 REVIEWED 1322860 PPIE peptidylprolyl isomerase E (cyclophilin E) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010] 1 1 p32 39977117 40002173 + 40204517 40229586 + 1580863;6480464;6907045 20460131;11313484;9747881;18258190;16710414;16189514;15489334;14702039;12477932;11991638;8977107;16169070;20532202;20677832;11976948;18676843;17207965;20541251;16344560;15963461;8889548;19932913;22939629;20360068;21887220;21628590;19471022;21139048;21890473;22379092 10450 E9PEQ6;E9PIB0;E9PK21;E9PKY5;E9PMH0;H0YCV4;H0YE31;Q5TGA3 ABBA01023201;AF042385;AF042386;AF104012;AF104013;AI079772;AK094660;AK130628;AK293094;AK304694;AK313666;AL033527;AL035404;AL049824;AL833576;AMYH01000524;AMYH01000525;BC004898;BC008451;BC107736;BU160972;BU179717;BU196539;BU689929;CA445146;CH471059;CK300365;DA079924;DQ160195;NM_001195007;NM_006112;NM_203456;NR_036543;NR_036544 AAC00006;AAC00007;AAD19906;AAD19907;AAH04898;AAH08451;AAI07737;AAZ93379;ADQ31890;BAF85783;BAG36418;BAG52903;BAG65464;EAX07255;EAX07256;NP_001181936;NP_006103;NP_982281;Q9UNP9 Hs.524690 1686260;1725661;1729734;1797328;2108875;2176208;5014063;5017227 BMP8B_2501;D15S1390;D1S168;D1S3422;G38154;G62039;PPIE_9112;RH93165 CYP-33;CYP33;MGC111222;MGC3736 OTTHUMP00000010837;OTTHUMP00000010838;OTTHUMP00000010839;OTTHUMP00000010840;OTTHUMP00000230708;OTTHUMP00000230709;PPIase E;cyclophilin 33;cyclophilin E;cyclophilin-33;peptidyl-prolyl cis-trans isomerase E;peptidylprolyl isomerase E, isoform 1;rotamase E APPROVED protein-coding ENSG00000084072 9258 03893 602435 REVIEWED 1345594 PPIP2 peptidylprolyl isomerase (cyclophilin) pseudogene 2 2197089 5484 9265 1319281 PPIL1 peptidylprolyl isomerase (cyclophilin)-like 1 This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 38377637 38397836 - 36930583 36950747 - 36822605 36842800 - 1580863;6480464;6907045 16595688;15383276;15772761;15489334;14574404;12975309;12477932;11991638;10810093;10072585;9647638;8978786;20007319;16159877;20368803;20360068;21139048;21890473;21628590;22318606 51645 Q9Y3C6 ABBA01038267;AF090992;AF151882;AK026636;AL122034;AMYH01016275;AY359032;BC003048;BU195579;CH471081;CQ756576;NM_016059;Z85996 AAD34119;AAH03048;AAQ89391;ABM83439;ABM86653;CAF32598;EAX03916;EAX03917;EAX03918;NP_057143;Q9Y3C6 Hs.27693 1648368;1670874;1670876;1724755;2164928 A006A37;G20659;HSC1ZG092;RH122584;WI-12521 CGI-124;CYPL1;MGC678;PPIase;hCyPX OTTHUMP00000016310;cyclophilin-related gene 1;peptidyl-prolyl cis-trans isomerase;peptidyl-prolyl cis-trans isomerase-like 1;rotamase PPIL1 APPROVED protein-coding ENSG00000137168 9260 03194 601301 REVIEWED 2290510 PPIP5K1P1 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 15 15 q15.3 41743807 41764318 + 43956515 43977026 - 12825070 554224 ABBA01049640;AC011330;AMYH01006601;AMYH01006602;AMYH01006603;NG_029358 1798666;1798734;1799040;1799332;1799382;1799510;1799726;1800032;1800122;1800292;1800328;1800376;1800438;1800528;1801414;1801416;1801524;1802982;1803224;1803294;1803342;1804038;1804224;1804910;1806784;1807314;1809112;1810224;1826116;1826204;1826290;1826370;1827546;1830370;1838714;1841724;1842826;1932926;1932932;1933144;1933146;1933148;1933150;1933152;1933154;1933156;1933158;1933160;1933162;1933166;1933168;1933170;1933172;1933174;1933176;1933178;1933180;2111262;2140490;2208842;2208844;2208846;2208848;2208850;2208852;2208854;2208856;2208858;2208860;2208862;2208864;2208866;2208868;2208870;2208872;2208972;2208974;2208976;2208978;2208980;2208982;2208984;2208986 D15S504;D15S917;ECD00173;ECD00207;ECD00365;ECD00515;ECD00541;ECD00606;ECD00717;ECD00871;ECD00917;ECD01004;ECD01022;ECD01047;ECD01079;ECD01124;ECD01581;ECD01582;ECD01640;ECD02381;ECD02504;ECD02543;ECD02567;ECD02935;ECD03034;ECD03390;ECD04352;ECD04627;ECD05544;ECD06104;ECD14167;ECD14213;ECD14257;ECD14298;ECD14889;ECD16319;ECD20534;ECD22060;ECD22620;REN37295;REN37298;REN37404;REN37405;REN37406;REN37408;REN37409;REN37410;REN37411;REN37412;REN37413;REN37414;REN37416;REN37417;REN37418;REN37419;REN37420;REN37421;REN37422;REN37423;stSG627775;stSG627776;stSG627777;stSG627778;stSG627779;stSG627780;stSG627781;stSG627782;stSG627784;stSG627785;stSG627786;stSG627787;stSG627789;stSG627790;stSG627791;stSG627792;stSG627851;stSG627852;stSG627853;stSG627854;stSG627855;stSG627860;stSG627867;stSG627868 HISPPD2B;HISPPD2BP APPROVED pseudo 32373 INFERRED 1347300 PPIH peptidylprolyl isomerase H (cyclophilin H) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008] 1 1 1 p34.1 41405975 41424356 + 42896635 42915016 + 43124048 43142429 + 1580863;6480464;6907045 9570313;15635413;15489334;12907720;12875835;12477932;11823439;10713041;9404889;21145461;17643375;19615732;19932913;22939629;22990118;16196087;21628590;20360068;21139048;21890473;21906983;16723661;22505724;22944692 10465 A6NM32;A6NNE7;C9JAN8;C9JQD4;H0YEL5;O43447;Q6FH36 ABBA01023129;AC098484;AF016371;AF036331;AK309438;AK310052;AK311979;AMYH01000551;BC003412;BT019343;BU955702;CH471059;CR541899;CR541920;NM_006347 AAC51927;AAC60793;AAH03412;AAV38150;ABM81897;ABM85072;BAG34918;CAG46697;CAG46718;EAX07151;EAX07152;EAX07153;EAX07154;EAX07155;EAX07156;NP_006338;O43447 Hs.256639 2161443 STS-AA025365 CYP-20;CYPH;MGC5016;SnuCyp-20;USA-CYP OTTHUMP00000008725;OTTHUMP00000008726;OTTHUMP00000008728;PPIase h;U-snRNP-associated cyclophilin SnuCyp-20;U-snRNP-associated cyclophilin SunCyp-20;USA-CyP SnuCyp-20;cyclophilin H;peptidyl prolyl isomerase h (cyclophilin h);peptidyl-prolyl cis-trans isomerase H;rotamase H;small nuclear ribonucleoprotein particle-specific cyclophilin H APPROVED protein-coding ENSG00000171960 14651 12084 606095 REVIEWED 1352974 PPIL6 peptidylprolyl isomerase (cyclophilin)-like 6 6 6 6 q21 110458002 110508958 - 109820624 109868524 - 109711418 109762374 - 1580863;6480464 18391951;15489334;14574404;12477932 285755 B4DEK6;E7EX15;H0Y7C3;H0YAQ8;H0YC62;Q8IXY8 ABBA01026126;ABBA01026127;AI052546;AK293674;AK315790;AL109947;AL359711;AMYH01016582;AMYH01016583;BC026359;BC026360;BC038716;BQ012747;CH471051;DC419072;DQ363562;DQ423529;NM_001111298;NM_173672 AAH26359;AAH26360;AAH38716;ABC88651;ABD83948;BAG38136;BAG57117;EAW48347;NP_001104768;NP_775943;Q8IXY8 Hs.32234 1340865;2156660;5022578;5022651;5037552;5120437 D11S2921;D11S930;D1S1423;D8S2279;GDB:315881;RH12821 MGC27054;MGC27056;MGC41939;RSPH12;bA425D10.6;dJ919F19.1 OTTHUMP00000034763;OTTHUMP00000034764;OTTHUMP00000225894;OTTHUMP00000225895;OTTHUMP00000225896;PPIase;cyclophilin-like protein PPIL6;peptidyl-prolyl cis-trans isomerase-like 6;peptidyl-prolyl cis-trans isomerase-like variant a;radial spoke 12 homolog;rotamase PPIL6 protein-coding ENSG00000185250 21557 15165 VALIDATED 1605707 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010] 15 15 15 q15.3 20596332 20621820 - 41612949 41664383 - 43825660 43882451 - 6480464 17412958;17702752;17690096;16344560;12825070;12477932;9205841;18636086;18981179;16110330;21222653;22939629;18029348;21139048;23300138 9677 B7WPL9;C9J490;C9J5E6;C9JZX6;F8W9A8;H0Y3Y5;H7C398;H7C436;Q8IZN0 AB002375;ABBA01038343;ABBA01038344;ABBA01038345;ABBA01149039;AC011330;AC019011;AF502586;AF502587;AF502588;AF502589;AF543190;AI214309;AI638651;AI656736;AK307438;AMYH01006590;AMYH01006591;AMYH01006592;AMYH01006593;AMYH01006594;AMYH01006595;AMYH01006596;AMYH01006597;AMYH01006598;AMYH01006599;AMYH01006600;AMYH01006601;AMYH01006602;AMYH01006603;BC035611;BC050263;BC057395;BX538022;BX647814;BX647870;CH471125;DB065605;DB228266;DQ102768;NG_022929;NM_001130858;NM_001130859;NM_001190214;NM_014659 AAH50263;AAH57395;AAN40768;AAP30842;AAP30843;AAP30844;AAP30845;AAZ78114;BAA20831;CAD97968;CAI46011;EAW92609;NP_001124330;NP_001124331;NP_001177143;NP_055474;Q6PFW1 Hs.156814;Hs.679911 1736786;1770686;1773019;1798666;1798732;1798734;1799040;1799332;1799382;1799510;1799726;1800032;1800122;1800292;1800328;1800376;1800438;1800528;1801416;1801524;1802982;1803224;1803294;1803342;1804038;1804224;1804910;1805302;1805428;1806784;1806786;1807314;1807794;1809112;1815774;1815996;1816670;1822134;1826204;1826290;1826370;1827006;1827546;1834186;1834470;1838714;1839558;1840756;1841724;1844988;1932718;1932720;1932722;1932724;1932726;1932728;1932730;1932732;1932734;1932736;1932738;1932740;1932742;1932744;1932746;1932748;1932750;1932752;1932754;1932756;1932758;1932760;1932762;1932764;1932766;1932768;1932770;1932772;1932774;1932776;1932778;1932780;1932782;1932784;1932786;1932788;1932790;1932792;1932794;1932796;1932798;1932800;1932802;1932804;1932806;1932808;1932810;1932812;1932814;1932816;1932818;1932820;1932822;1932824;1932826;1932828;1932830;1932832;1932834;1932836;1932838;1932840;1932842;1932844;1932846;1932848;1932850;1932852;1932854;1932856;1932858;1932860;1932862;1932864;1932866;1932868;1932870;1932872;1932874;1932876;1932878;1932880;1932882;1932884;1932886;1932888;1932890;1932892;1932894;1932896;1932898;1932900;1932902;1932904;1932906;1932908;1932910;1932912;1932914;1932916;1932918;1932920;1932922;1932924;1932926;1932928;1932930;1932932;1933174;1933176;1933178;1933180;2140490;2153279;2208822;2208824;2208826;2208828;2208830;2208832;2208834;2208836;2208838;2208840;2208862;2208864;2208874;2208876;2208878;2208880;2208966;2208968;2208970 A006R36;D15S778;D15S917;D15S956;ECD00173;ECD00206;ECD00207;ECD00365;ECD00515;ECD00541;ECD00606;ECD00717;ECD00871;ECD00917;ECD01004;ECD01022;ECD01047;ECD01079;ECD01124;ECD01582;ECD01640;ECD02381;ECD02504;ECD02543;ECD02567;ECD02935;ECD03034;ECD03390;ECD03597;ECD03661;ECD04352;ECD04353;ECD04627;ECD04871;ECD05544;ECD08925;ECD09038;ECD09378;ECD12153;ECD14213;ECD14257;ECD14298;ECD14618;ECD14889;ECD18241;ECD18383;ECD20534;ECD20961;ECD21569;ECD22060;ECD23710;REN37191;REN37192;REN37193;REN37194;REN37195;REN37196;REN37197;REN37198;REN37199;REN37200;REN37201;REN37202;REN37203;REN37204;REN37205;REN37206;REN37207;REN37208;REN37209;REN37210;REN37211;REN37212;REN37213;REN37214;REN37215;REN37216;REN37217;REN37218;REN37219;REN37220;REN37221;REN37222;REN37223;REN37224;REN37225;REN37226;REN37227;REN37228;REN37229;REN37230;REN37231;REN37232;REN37233;REN37234;REN37235;REN37236;REN37237;REN37238;REN37239;REN37240;REN37241;REN37242;REN37243;REN37244;REN37245;REN37246;REN37247;REN37248;REN37249;REN37250;REN37251;REN37252;REN37253;REN37254;REN37255;REN37256;REN37257;REN37258;REN37259;REN37260;REN37261;REN37262;REN37263;REN37264;REN37265;REN37266;REN37267;REN37268;REN37269;REN37270;REN37271;REN37272;REN37273;REN37274;REN37275;REN37276;REN37277;REN37278;REN37279;REN37280;REN37281;REN37282;REN37283;REN37284;REN37285;REN37286;REN37287;REN37288;REN37289;REN37290;REN37291;REN37292;REN37293;REN37294;REN37295;REN37296;REN37297;REN37298;REN37420;REN37421;REN37422;REN37423;RH15726;stSG627761;stSG627762;stSG627763;stSG627764;stSG627765;stSG627767;stSG627770;stSG627772;stSG627773;stSG627774;stSG627786;stSG627787;stSG627794;stSG627795;stSG627796;stSG627797;stSG627848;stSG627849;stSG627850 DKFZp313L0221;HISPPD2A;IP6K;IPS1;KIAA0377;MGC51871;VIP1;hsVIP1 IP6 kinase;OTTHUMP00000066120;OTTHUMP00000066121;OTTHUMP00000066122;OTTHUMP00000066123;OTTHUMP00000066263;OTTHUMP00000196869;VIP1 homolog;histidine acid phosphatase domain containing 2A;histidine acid phosphatase domain-containing protein 2A;inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1;inositol pyrophosphate synthase 1;insP6 and PP-IP5 kinase 1 APPROVED protein-coding ENSG00000168781 29023 13798 610979 REVIEWED 3461318 PPM1AP1 protein phosphatase, Mg2+/Mn2+ dependent 1A, pseudogene 1 8 8 8 p22 14627428 14628805 - 15707781 15709283 + 15663434 15664812 - 137012 ABBA01021598;AC019292;AMYH01018538;NG_002692 pseudo 30175 INFERRED 1319848 PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 5837808 5869733 + 20350273 20382202 + 22020273 22052202 + 1580863;6480464;6907045 11435423;15946952;8660300;16344560;15489334;15461802;14702039;12477932;10591208;8889548;18029348;15189447;19669607;21832049;21139048;21890473;15840729;22318606 23759 C9JDF0;E7EW80;F8WC56;H7C2D2;Q13356 AA743164;ABBA01055059;ABBA01055060;ABBA01055061;AF320072;AK097249;AK127259;AK289545;AK299206;AL702046;AMYH01012636;AMYH01012637;AMYH01012638;AP000553;BC000022;BC028385;BM981665;CH471095;CR456548;DA863607;NM_014337;NM_148175;NM_148176;U37219;U37220;U37221 AAC50376;AAC50377;AAC50378;AAH00022;AAH28385;AAK07635;ABM82585;ABM85772;BAF82234;BAG61246;CAG30434;CAK54579;CAK54878;EAW59469;EAW59470;EAW59471;EAW59472;EAW59473;EAW59474;EAW59475;EAW59476;NP_055152;NP_680480;NP_680481;Q13356 Hs.438587 1669964;1698390;2110045;2128404;2155843;7186001 A006V27;D22S446;RH102737;SHGC-34311;STS-U37219;YPEL1_9589 CYC4;CYP60;Cyp-60;FLJ39930;MGC33174;MGC787;UBOX7;hCyP-60 OTTHUMP00000028566;OTTHUMP00000198560;OTTHUMP00000198561;PPIase;U-box domain containing 7;cyclophilin, 60kDa;cyclophilin-60;cyclophilin-like protein CyP-60;peptidyl-prolyl cis-trans isomerase-like 2;peptidylprolyl cis-trans isomerase;rotamase PPIL2 APPROVED protein-coding ENSG00000100023 9261 08472 607588 REVIEWED 1322302 PPIL4 peptidylprolyl isomerase (cyclophilin)-like 4 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008] 6 6 6 q25.1 150560719 150602255 - 149867324 149908864 - 149825631 149867238 - 6480464 17081983;15489334;15231748;14702039;14574404;12747765;12477932;11978968;21252943;19615732;21890473;21906983 85313 Q5T4S2;Q8WUA2 ABBA01025679;ABBA01025680;ABBA01025681;AF068298;AF308286;AF357880;AK092069;AK315388;AL078581;AL357619;AMYH01016734;BC016984;BC020986;BC064134;BC107684;BX537536;CH471051;NM_139126 AAF65187;AAG48254;AAH16984;AAH20986;AAH64134;AAI07685;AAM63961;ACT64498;ACT64499;BAG37781;BAG52476;CAD97776;EAW47799;EAW47800;NP_624311;Q8WUA2 Hs.744238 1773558 D6S1064 HDCME13P OTTHUMP00000017393;PPIase;cyclophilin-like protein PPIL4;cyclophilin-type peptidyl-prolyl cis-trans isomerase;peptidyl-prolyl cis-trans isomerase-like 4;rotamase PPIL4;serologically defined breast cancer antigen NY-BR-18 APPROVED protein-coding ENSG00000131013 15702 07606 607609 REVIEWED 1350391 PPIL3 peptidylprolyl isomerase (cyclophilin)-like 3 This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008] 2 2 2 q33.1 195490309 195508479 - 201443924 201462244 - 201735679 201753849 - 1302302;6480464 11435694 18474220;16510998;16189514;15989758;15815621;15735342;15489334;14702039;12477932;11991638;20379614;22939629;21139048;21890473;21906983;19322201;22797925 53938 B8ZZ77;C9J4N2;C9K058;F8WC82;H7BZ14;Q9H2H8 ABBA01062523;ABBA01062524;AC005037;AF146799;AF251049;AF271652;AF414127;AK297804;AMYH01011400;AY257468;BC007693;BC031679;CB961908;CH471063;NM_032472;NM_130906 AAG44766;AAH07693;AAK34939;AAO64723;AAP13527;AAP97286;AAY14723;ADZ15944;BAG60142;EAW70220;EAW70221;EAW70222;EAW70223;NP_115861;NP_570981;Q9H2H8 Hs.121076 1678911 RH93729 CYPJ OTTHUMP00000163670;OTTHUMP00000163671;OTTHUMP00000206157;OTTHUMP00000206158;OTTHUMP00000206159;OTTHUMP00000206160;OTTHUMP00000206161;PPIase;PPIase-like protein 3;cyclophilin J;cyclophilin-like protein 3;cyclophilin-like protein PPIL3;peptidyl-prolyl cis-trans isomerase-like 3;peptidylprolyl cis-trans isomerase-like protein 3;rotamase PPIL3 APPROVED protein-coding ENSG00000240344 9262 15163 REVIEWED 1604040 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD1 has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).[supplied by OMIM, Mar 2008] 5 5 5 q21.1 98413095 98486730 + 102493156 102566809 + 102465257 102538910 + 6480464 17702752;17690096;12477932;9455477;18981179;20379614;17549794;21906983;22119861;16344560;22939629 23262 B4DGV1;D6RBU4;D6RFG4;H0Y9M0;H0Y9S9;K7EJG8;K7ENU7;K7EPT7;O43314 AB007893;ABBA01069147;ABBA01069148;ABBA01069149;AC008447;AC011362;AK025159;AK027116;AK294787;AMYH01015516;BC024591;CH471086;DB298507;DC404725;NM_001276277;NM_001281471;NM_015216 AAH24591;BAA24863;BAG57912;EAW49076;EAW49077;EAW49078;EAW49079;NP_001263206;NP_001268400;NP_056031;O43314 Hs.212046 1643872;1797130;1854473 KIAA0433;RH65244;SGC34163 FLJ21506;FLJ23463;HISPPD1;IP7K2;KIAA0433;VIP2 OTTHUMP00000222705;OTTHUMP00000222706;OTTHUMP00000222707;VIP1 homolog 2;histidine acid phosphatase domain containing 1;histidine acid phosphatase domain-containing protein 1;hsVIP2;inositol heptaphosphate kinase 2;inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2;insP6 and PP-IP5 kinase 2 APPROVED protein-coding ENSG00000145725 29035 13802 611648 VALIDATED 1313581 PPL periplakin The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008] 16 16 p13.3 4872509 4927137 - 4932508 4987136 - 1580863;6480464 21145461;12244133;9521878;17662978;16565220;16400690;15654952;15590649;15500642;15302935;15229321;15033990;12810704;12477932;12432088;12366696;11854008;11062259;10379702;10051401;9628581;9570964;9412476;8889548;14625392;15337775;12853457;12176997;15231748;16713569;18820940;19211270;20379614;20468064;18624398;20360068;21951621;21906983;22558309;22637743;23314748;23319000;22841549 5493 K7EKI8;K7EQ71;O60437 AB011140;ABBA01026789;ABBA01026790;ABBA01026791;ABBA01026792;AC027687;AF001691;AF013717;AF040999;AF041000;AF041001;AF041002;AF041003;AF041004;AK295623;AMYH01007108;AW582622;BC114620;BM673980;CH471112;CS673510;CS690893;FB665646;GM706858;NM_002705 AAC17738;AAC39668;AAD17459;AAI14621;BAA25494;BAH12130;CAP07522;CAP11490;CAR97104;CAT82362;EAW85248;NP_002696;O60437 Hs.192233 1690614;1847348;2150136;2154124 D16S3214;RH15620;RH65233;SHGC-60728 KIAA0568;MGC134872 190 kDa paraneoplastic pemphigus antigen;195 kDa cornified envelope precursor protein;OTTHUMP00000159922;periplakin APPROVED protein-coding ENSG00000118898 9273 04187 602871 REVIEWED 1350294 PPM1E protein phosphatase, Mg2+/Mn2+ dependent, 1E This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 17 17 17 q22 53295075 53524883 + 54188231 54417319 + 56833230 57062540 + 1580863;6480464;7241020 18454172 17903297;15680915;11864573;10470851;11726284;12477932;15496589;18029348;20801214;17043677;17897624 22843 A7E2X1;Q8WY54 AB028995;ABBA01041351;ABBA01041352;ABBA01041353;ABBA01041354;ABBA01041355;ABBA01041356;AC025521;AC100832;AF260269;AF520614;AK289966;AMYH01008513;AMYH01008514;AMYH01008515;AMYH01008516;BC136290;BC143845;BC151228;CH471109;CR749253;NM_014906;NR_048561 AAF70325;AAI36291;AAI51229;AAM76058;BAA83024;BAF82655;CAH18109;EAW94429;NP_055721;Q8WY54 Hs.245044 1659069;1662594;1691752;1691760;1691762;1693438;1693444;1734414;2131468;2177647;2219552;5491525;5492013 D17S1389E;D17S1680;G42224;G42232;G42234;G42381;G42385;MARC_17001-17002:1020863780:1;PPM1E__5569;RH11893;WI-15527;WI-18603;ksks326 CaMKP-N;DKFZp781F1422;KIAA1072;POPX1;PP2CH;caMKN ca(2+)/calmodulin-dependent protein kinase phosphatase N;caMKN;caMKP-nucleus;nuclear calmodulin-dependent protein kinase phosphatase;partner of PIX 1;partner of PIX-alpha;partner of PIXA;protein phosphatase 1E;protein phosphatase 1E (PP2C domain containing) APPROVED protein-coding 19322 17888 REVIEWED 737169 PPM1F protein phosphatase, Mg2+/Mn2+ dependent, 1F The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6091333 6124791 - 20603793 20637217 - 22273792 22307250 - 1580863;6480464;7241020 18454172 22743349;16344560;15140879;12539042;12477932;11864573;11559703;9074928;7584028;7584026;16169070;10348902;18839057;20016286;20379614;21656682;19322201;22079093;21139048;21906983;22144583;22318606 9647 A8MX49;B5MCT7;B7Z2C3;C9J2F3;C9JL74;P49593 ABBA01055075;AF305840;AF520615;AK126377;AK291628;AK294557;AMYH01012639;AP000555;AU127806;BC071989;BC105599;CA425300;CH471095;D13640;D86995;D87012;D87019;DA311634;N34773;NM_014634 AAH71989;AAI05600;AAL15579;AAM76059;ACE86448;ACE87124;BAA02803;BAA19990;BAF84317;BAG54318;BAH11809;EAW59483;EAW59484;EAW59485;NP_055449;P49593 Hs.112728 1648451;1659759;1666423;1693600;1698264;2108877;2119034;2135212;2140311;2146549 A005T48;D22S1264;G10648;NIB721;PPM1F_8970;RH102668;RH25254;RH45391;SHGC-58507;STS-N27859 CAMKP;CaMKPase;FEM-2;KIAA0015;POPX2;hFEM-2 Ca(2+)/calmodulin-dependent protein kinase phosphatase;CaM-kinase phosphatase;OTTHUMP00000198593;OTTHUMP00000198594;OTTHUMP00000198595;PP2C phosphatase;partner of PIX 2;protein fem-2 homolog;protein phosphatase 1F;protein phosphatase 1F (PP2C domain containing) APPROVED protein-coding ENSG00000100034 19388 10163 REVIEWED 731572 PPM1A protein phosphatase, Mg2+/Mn2+ dependent, 1A The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 14 14 q23.1 59782223 59829826 + 60712470 60765805 + 1580863;6480464;6484113;6907045 1311954;12761501;10644691;18930133;18829461;18482992;17729405;17620599;17353931;16931515;16751101;16541025;16344560;15728831;15489334;15016818;14702039;14663150;12514180;12477932;11959144;11479720;10580002;10480873;10400656;9707433;9003755;8386634;22041443;19404668;20379614;16712791;20970119;22727189;21139048;11559703;22036096;23560844;21988832;22519956;23000965;23184937;22588298 5494 B2R8E4;E9PJN3;E9PKB5;E9PL75;E9PNE1;E9PP44;P35813 AB451247;AB451371;ABBA01018278;ABBA01018279;AF070670;AI076736;AK097843;AK124299;AK308225;AK313337;AL132778;AL157756;AMYH01005766;AY236965;BC026691;BC063243;BF511118;BQ876369;CA427296;CB156710;CH471061;DA439296;L32169;NG_029698;NM_021003;NM_177951;NM_177952;S87759 AAB21784;AAC28354;AAH26691;AAH63243;AAQ20086;ABM82692;ABM85876;BAG36141;BAG70061;BAG70185;EAW80774;EAW80775;EAW80776;EAW80777;NP_066283;NP_808820;NP_808821;P35813 Hs.130036 1676057;1678777;1698398;1725187;1736398;1738945;2110667;2154503;2161284;5108050 D14S1259;D14S656E;D14S794;PPM1A__5759;RH102741;RH124067;RH17916;RH92556;RH98675;STS-AA034525 FLJ42306;MGC9201;PP2C-ALPHA;PP2CA;PP2Calpha OTTHUMP00000179040;OTTHUMP00000179041;OTTHUMP00000232007;OTTHUMP00000232008;OTTHUMP00000245208;phosphatase 2C alpha;protein phosphatase 1A;protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform;protein phosphatase 1a, magnesium dependent, alpha isoform;protein phosphatase 2C alpha isoform;protein phosphatase 2C isoform alpha;protein phosphatase IA APPROVED protein-coding ENSG00000100614 9275 16199 606108 REVIEWED 1313498 PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008] 17 17 q23.2 56032336 56096818 + 58677544 58743641 + 1599171;1580863;6480464;6484113;6907045;7240710;7240533 12021784;20626350 17936559;9177166;19435816;19377466;19015127;18991770;18845566;18482988;18328948;17977650;17939684;17685927;17016428;16949371;16936775;16912047;16897432;16798742;16352595;16314645;16311512;16254685;15870257;15807522;15489334;15327777;15054481;12878157;12477932;12185196;14702039;12021785;11809801;11101529;11101524;7649987;7566098;21281403;20367961;20668064;19713933;20007970;20093361;20101220;20118229;20379614;20543821;20460517;23314748;21283629;21695702;22115592;22379189;22340722;21139048;21734451;21890473;21906983;22145905;22201816;21927021;20301425;23306038;21336731;23255129;23649806;22325093;23242139 8493 K7EJH1;O15297;Q6P991;Q8IVR6 AA326266;ABBA01035404;ABBA01035405;ABBA01035406;ABBA01035407;ABBA01035408;AC011921;AC110602;AC111155;AK054573;AK299773;AK312902;AMYH01008530;AMYH01008531;AU280469;BC016480;BC032826;BC033893;BC042418;BC060877;BT009780;BU616782;CH471179;NG_023265;NM_003620;U78305 AAB61637;AAH16480;AAH33893;AAH42418;AAH60877;AAP88782;ABM81973;ABW03353;BAG35748;BAG61656;EAW51408;EAW51409;NP_003611;O15297 Hs.286073 1697888;2133240;5037552 D8S2279;RH102472;SHGC-53722 PP2C-DELTA;WIP1 p53-induced protein phosphatase 1;protein phosphatase 1D;protein phosphatase 1D magnesium-dependent, delta isoform;protein phosphatase 2C delta isoform;protein phosphatase 2C isoform delta;protein phosphatase Wip1;protein phosphatase magnesium-dependent 1 delta;wild-type p53-induced phosphatase 1 APPROVED protein-coding 9277 05482 114480;605100 REVIEWED 733846 PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008] 2 2 p21 44249504 44315246 + 44396000 44461742 + 1580863;6480464;6907045 17353931;17620599;9684878;18930133;18829461;15913950;15489334;14702039;14585847;12477932;12045112;11563908;11524703;11104763;10934208;10580002;10480873;16884686;20379614;17207965;20538721;20462248;23084401;22750291;22939629;21139048;21906983;21942715;22169276;18654987;22318606;22393050;22053931;22268729 5495 B8ZZF0;C9JIR6;O75688 AA769851;ABBA01075100;ABBA01075101;ABBA01075102;ABBA01075103;AC013717;AC019129;AF136972;AF294792;AJ005801;AJ271832;AJ271835;AK056009;AK291214;AL833035;AMYH01010305;BC012002;BC064381;BF979498;BQ773881;CH471053;DQ023508;DQ023509;DQ023510;DQ023511;NG_011678;NM_001033556;NM_001033557;NM_002706;NM_177968;NM_177969 AAG02232;AAG49433;AAH12002;AAH64381;AAX88954;AAY89639;AAY89640;AAY89641;AAY89642;ADQ33189;BAF83903;BAG51602;CAA06704;CAC27992;CAC27993;CAH56319;EAX00280;EAX00281;EAX00282;EAX00283;NP_001028728;NP_001028729;NP_002697;NP_808907;NP_808908;O75688 Hs.416769 1680992;1789572;1797168;2138322;2168111;2172281;2191223;5024761 A004I37;D2S4020;MARC_16411-16412:1018631330:1;PPM1B;RH12314;RH36905;RH68945;RH93945 MGC21657;PP2C-beta-X;PP2CB;PP2CBETA;PPC2BETAX OTTHUMP00000158953;OTTHUMP00000158954;OTTHUMP00000158955;OTTHUMP00000202394;OTTHUMP00000202395;OTTHUMP00000202397;OTTHUMP00000202398;OTTHUMP00000202399;PP2C-beta;protein phosphatase 1B;protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform;protein phosphatase 1b, magnesium dependent, beta isoform;protein phosphatase 2C isoform beta;protein phosphatase 2C-like protein APPROVED protein-coding ENSG00000138032 9276 04796 603770 REVIEWED 1319913 PPM1H protein phosphatase, Mg2+/Mn2+ dependent, 1H 12 12 12 q14.1 62706254 62997164 - 61324029 61614932 - 63037762 63328665 - 1580863;6480464 18059182;16344560;14702039;12477932;10574461;20659327;20732627;20966902;20379614;9770338;22586611;23251661 57460 Q9ULR3 AB032983;AB084258;ABBA01026625;ABBA01026626;ABBA01026627;ABBA01026628;ABBA01026629;AC023359;AC025264;AC048341;AC078814;AK023315;AMYH01004538;AMYH01004539;BC040177;BC157843;CH471054;DA396561;NM_020700 AAI57844;AAI60095;BAA86471;BAG16181;EAW97112;NP_065751;Q9ULR3 Hs.435479 1340197;1648930;1662113;1667806;1670503;1746131;1746133;1746137;1746585;1782802;1791846;1795102;1849158;1849697;2128702;2160396;5015961;5037552;7184943 A006R05;D12S1276;D12S1437;D12S2035;D12S2118;D12S2134;D12S329;D12S862;D15S1477;D8S2279;G64391;G64392;G64493;G64494;PMC128021P1;PMC97911P1;SHGC-85771;STS-T79956 ARHCL1;FLJ13253;KIAA1157;NERPP-2C;URCC2 OTTHUMP00000242573;neurite extension-related protein phosphatase related to PP2C;protein phosphatase 1H;protein phosphatase 1H (PP2C domain containing);ras homolog gene family, member C like 1 APPROVED protein-coding ENSG00000111110 18583 VALIDATED 1603861 PPM1J protein phosphatase, Mg2+/Mn2+ dependent, 1J This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 111483060 111488379 - 113054139 113059473 - 113252616 113257950 - 6480464 14702039;14654243;12633878;12477932;11007961;2557326;20379614 333926 Q5JR12 AB451327;AB451471;ABBA01068416;AK093270;AL133644;AL545356;AL603832;AMYH01000949;BC011803;BC064628;BC073828;NM_005167 AAH11803;AAH73828;ACE86828;ACE87514;BAG52679;BAG70141;BAG70285;CAB63764;NP_005158;Q5JR12 Hs.655231 1341347;1759659 D1S2756;SHGC-150726 DKFZp434P1514;FLJ35951;MGC19531;MGC90149;PP2CZ;PP2Czeta;PPP2CZ;RP11-426L16.5 OTTHUMP00000013810;PP2C-zeta;protein phosphatase 1J;protein phosphatase 1J (PP2C domain containing);protein phosphatase 2C isoform zeta;protein phosphatase 2C zeta;protein phosphatase 2a, catalytic subunit, zeta isoform APPROVED protein-coding ENSG00000155367 20785 15171 609957 REVIEWED 1353112 PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012] 4 4 4 q22.1 86477986 86502345 - 89402041 89424771 - 89178761 89205983 - 737633;6480464 12477932 17336929;18987618;18846501;17374715;14702039;9847074;16685424;15815621;15489334;18029348;20877624;17207965;22291014;22286219;23446828;21988832;22916037 152926 Q8ND70 ABBA01063547;AC097484;AC107067;AC108213;AF351614;AK054678;AK092450;AK314417;AL834167;AL834271;AMYH01014383;AY157615;AY435431;AY994097;BC020850;BC037552;BC041350;CH471057;HY120304;NG_032931;NM_152542 AAH20850;AAH37552;AAH41350;AAN76514;AAO17296;AAR06213;AAX77016;AAY41021;ADQ32298;BAB70790;BAG37038;CAD38869;CAD38946;EAX06014;EAX06015;EAX06016;NP_689755;Q8N3J5 Hs.43744 1655159;1660816;1672522;2115698;2120879;2154424;2166894;5014051;5015404;5015621;5015861;5016478;5016596;5020274;5022463;5022578;5022649;5022651;5037552;5109281;5111386;7185938 20;D10S16;D11S2875;D11S2921;D11S3732;D1S1423;D1S1425;D3S1673;D4S905;D8S2278;D8S2279;GDB:434012;GDB:631802;L17705;L18441;SHGC-24822;SHGC-36508;STS-AA017240;STS-F04960;STS-M61964;STS-N22865 BDP;DKFZp667B084;DKFZp761G058;MSUDMV;PP2Ckappa;PP2Cm;PTMP;UG0882E07;hPTMP OTTHUMP00000161565;OTTHUMP00000219606;PP2C domain-containing protein phosphatase 1K;PP2C type mitochondrial phosphatase;PP2C-kappa;PP2C-like mitochondrial protein;PP2C-like protein;PP2C-type mitochondrial phosphoprotein phosphatase;branched-chain α-ketoacid dehydrogenase phosphatase;branched-chain alpha-ketoacid dehydrogenase phosphatase;protein phosphatase 1K (PP2C domain containing);protein phosphatase 1K, mitochondrial;protein phosphatase 2C isoform kappa;protein phosphatase 2C kappa APPROVED protein-coding 25415 15167 611065;615135 REVIEWED 732734 PPM1G protein phosphatase, Mg2+/Mn2+ dependent, 1G The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010] 2 2 p23.3 27457565 27486000 - 27604066 27632550 - 1580863;6480464 9276438;9271424;17984321;17572683;17074886;17054950;15489334;14663150;12477932;9887102;16169070;17215244;19538940;19615732;20468071;18406329;23281010;22863883;22939629;22990118;16344560;22361354;18029348;18781797;21139048;21693764;21890473;21900206;21903422;21906983;21963094;19471022;21044950;22586326;21988832;22412018;23000965;23402259;23505323;22190034;22505724 5496 O15355;Q6IAU5 AB209197;ABBA01045203;ABBA01045204;ABBA01045205;AC074117;AI623188;AI879284;AK127593;AK293141;AK312455;AMYH01010195;BC000057;BC007361;BC014386;BC015048;BC022061;BT007454;CH471053;CR457059;DA520893;NM_177983;Y13936 AAH00057;AAH07361;AAH14386;AAH22061;AAP36122;AAY14846;ABM83076;ABM86272;BAD92434;BAG35362;BAG54530;BAG56689;CAA74245;CAG33340;EAX00582;NP_817092;O15355 Hs.643951 1712128;1712164;1728995;2110669;2185881;5015961;5022651;5037552 D11S2921;D15S1477;D8S2279;G54114;PPM1G_7857;Ppm1g;RH48963;UniSTS:109369 MGC1675;MGC2870;PP2CG;PP2CGAMMA;PPP2CG OTTHUMP00000123426;PP2C, gamma;PP2C-gamma;protein phosphatase 1C;protein phosphatase 1G;protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform;protein phosphatase 2, catalytic subunit, gamma isoform;protein phosphatase 2C gamma isoform;protein phosphatase 2C isoform gamma;protein phosphatase magnesium-dependent 1 gamma APPROVED protein-coding ENSG00000115241 9278 09237 605119 REVIEWED 1313118 PPM1L protein phosphatase, Mg2+/Mn2+ dependent, 1L PPM1L, or PP2CE, belongs to the PP2C group of serine/threonine phosphatases, which are distinguished from other phosphatases by their structure, absolute requirement for Mg(2+) or Mn(2+), and insensitivity to okadaic acid. PP2Cs regulate stress-activated protein kinase (SAPK; see MIM 601158) signaling cascades that respond to extracellular stimuli (Jin et al., 2004 [PubMed 15560375]).[supplied by OMIM, Apr 2008] 3 3 3 q26.1 158896208 159211045 + 161956690 162271511 + 160473996 160788817 + 6480464 19240061;18165232;17456047;15560375;14702039;12556533;12477932;16895911;19847890;20379614;22446961;22318606;22796112 151742 Q5SGD2 ABBA01058790;ABBA01058791;ABBA01058792;AC016920;AC021649;AC069224;AC117413;AK055115;AMYH01013616;AY337264;BC090872;BC104885;BC104887;BC110801;CH471052;NM_139245 AAI04886;AAI04888;AAR00269;BAB70856;EAW78626;NP_640338;Q5SGD2 Hs.389027 1335236;1335836;1650346;1695850;1709532;1720947;1750027;1751039;1755761;1765577;1784890;2182170 D3S1543;D3S3059;D3S3579;G59303;SHGC-104992;SHGC-111719;SHGC-142611;SHGC-149038;SHGC-77498;SHGC-78467;SHGC-78794;SHGC-81842 MGC132545;MGC132547;PP2C-epsilon;PP2CE;PPM1-LIKE OTTHUMP00000213918;OTTHUMP00000213920;OTTHUMP00000213921;PP2C epsilon;Protein phosphatase 2C epsilon isoform;protein phosphatase 1 (formerly 2C)-like;protein phosphatase 1-like;protein phosphatase 1L;protein phosphatase 2C isoform epsilon APPROVED protein-coding 16381 17889 611931 PROVISIONAL 1604993 PPM1N protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) 19 19 19 q13.32 42807837 42811874 + 50693571 50697608 + 46001731 46005768 + 6480464 14702039;12477932 147699 A8MXX7;B5MCQ2;E7ENL9;H7C347;Q8N819 ABBA01040932;AC138534;AK097444;AMYH01009852;BC028228;BC062452;CH471126;NM_001080401 AAH28228;AAH62452;BAC05056;EAW57360;NP_001073870;Q8N819 Hs.532872 1686142;1695344 RH76054;SHGC-64776 FLJ40125 OTTHUMP00000179174;OTTHUMP00000179175;OTTHUMP00000201830;OTTHUMP00000201831;OTTHUMP00000201832;OTTHUMP00000201834;probable protein phosphatase 1B-like;probable protein phosphatase 1N;protein phosphatase 1B-like APPROVED protein-coding 26845 08270 PROVISIONAL 1602186 PPM1M protein phosphatase, Mg2+/Mn2+ dependent, 1M 3 3 3 p21.2 52259536 52263926 + 52255226 52259651 + 52279809 52284615 + 6480464 15489334;14702039;14654243;12477932;19594441;16344560;21926972;22182935 132160 B7XGB9;F8W976;H7C3K4;H7C3S3;Q96MI6 AA829740;AB474372;ABBA01024510;AC006252;AI141068;AK056894;AK096681;AK129647;AL832484;AMYH01013182;BC009644;BF516133;CH471055;DA869388;DB479638;NM_001122870;NM_144641 AAH09644;ADZ15810;BAB71302;BAC04839;BAC85206;BAH03578;EAW65197;EAW65198;EAW65199;EAW65200;EAW65201;NP_001116342;NP_653242;Q96MI6 Hs.373560;Hs.731914 1690436;2168339;2169162;5491489 A002C09;MARC_15661-15662:1016643799:1;RH12810;RH76369 FLJ32332;PP2C-eta;PP2CE;PP2Ceta OTTHUMP00000202995;OTTHUMP00000202996;OTTHUMP00000202997;protein phosphatase 1M;protein phosphatase 1M (PP2C domain containing);protein phosphatase 2C eta;protein phosphatase 2C eta-2;protein phosphatase 2C isoform eta APPROVED protein-coding ENSG00000164088 26506 12350 608979 VALIDATED 1321506 PPOX protoporphyrinogen oxidase This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 1 1 q22 159402818 159407634 + 161136181 161141010 + 1599172;1599174;1599176;1599180;1580863;1578396;4145363;4145271;4144542;4145281;6480464;6907045;7240710 8852667;9254745;10486317;3663105;11929050;8563760;16839620;9431441 8806618;8673113;8575762;8554330;8288631;16169070;9003509;7713909;8771201;18191920;16947091;16621625;15489334;14702039;14669009;14535846;12922165;12556518;12477932;12357337;12017191;11350188;11298551;11286631;10870850;10756096;10457135;9811936;9763307;9074790;20877624;21048046;19229653;18624398;21139048;21910705;23324528;23467411 5498 B4DQQ7;F5GZT7;F5H1I5;F5H825;H0YFE1;H0YFP3;P50336 ABBA01016596;AF215863;AF215864;AF321821;AI357309;AK094855;AK298912;AK302298;AL590714;AMYH01001457;AU076582;AY032687;AY032688;BC002357;BX384814;CH471121;D38537;DC329287;NG_012877;NM_000309;NM_001122764;U26446 AAA67690;AAG43994;AAG43995;AAH02357;AAK50375;AAK50376;AAK69607;ABM83141;ABM86337;BAA07538;BAG52942;BAG61019;BAG63638;EAW52635;EAW52636;EAW52637;EAW52638;EAW52639;EAW52640;EAW52641;NP_000300;NP_001116236;P50336 Hs.517373 1652326;1685530;1694586;1729077;1848835;2145731;2146481;2150332;5037746 A001T06;D1S3696;G43283;NIB1690;Ppox;RH11845;RH15837;RH71218;RH8143 MGC8485;PPO;V290M;VP OTTHUMP00000032237;OTTHUMP00000032238;protoporphyrinogen oxidase APPROVED protein-coding ENSG00000143224 9280 02953 176200;600923 REVIEWED 1344877 PPP1R10P1 protein phosphatase 1, regulatory subunit 10 pseudogene 1 11 q24.3 130659124 130660770 - 11948623;11948623 100422381;94296 ABBA01023046;AMYH01004130;AP003486;NG_024439 PPP1R10P APPROVED pseudo 16325 INFERRED 1349677 PPP1R11P1 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 1 p36.12 21724486 21724857 + 11948623;11948623 94297 ABBA01059810;AL365182;AMYH01000333;NG_030207 pseudo 16326 INFERRED 1345523 PPP1R11P2 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 X X p11.21 61109891 61110272 + 57255467 57255848 + 11948623 94298 ABBA01069341;AMYH01022462;NG_009575;Z83745 pseudo 16327 INFERRED 1605082 PPME1 protein phosphatase methylesterase 1 This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 11 11 11 q13.4 71189163 71272541 + 73560016 73643396 + 73882368 73965748 + 6480464 10318862;19293187;17803990;15489334;14702039;12665801;12477932;8125298;18782753;21398589;22939629;22863883;19156129;21139048;21906983;20360068;16344560;22732552;22443683;23000965 51400 F5H2D4;J3QT22;Q9Y570 ABBA01017493;ABBA01017494;AF111853;AF157028;AK001381;AK022725;AK025414;AK025879;AK095005;AK123288;AK225647;AMYH01003812;AP000577;AP002392;BC003046;BC050705;BX537528;CH471076;DA691258;DA824678;NM_001271593;NM_016147 AAD44976;AAF16692;AAH03046;AAH50705;ABM83274;ABM86704;BAA91661;BAC85574;BAG51108;EAW74932;NP_001258522;NP_057231;Q9Y570 Hs.503251 1646256;1666107;1718491;1854049;2160591;2167384;2177979;2189499;7186533 D11S2056;D11S2257E;D11S3971;MARC_7583-7584:992008525:1;RH11842;RH122448;SGC34863;STS-T95088 FLJ22226;PME-1 OTTHUMP00000237973;OTTHUMP00000237974;protein phosphatase methylesterase 1;protein phosphatase methylesterase-1 APPROVED protein-coding ENSG00000214517 30178 17864 611117 REVIEWED 732967 PPP1R10 protein phosphatase 1, regulatory subunit 10 This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 p21.3 30676161 30692999 - 30568177 30585084 - 633715;6480464 9461602 15203218;8889548;19429178;19293638;18360108;17318220;17081983;16964243;15907195;15894402;15231748;14574404;12914669;12574161;12477932;9784381;9450550;8838313;10637318;20516061;20372802;20890310;19851445;23117887;17000644;22939629;16196087;18781797;19596686;20360068;21139048;21890473;21987572;16009940;15576338;22678362;23537643 5514 Q2L6I0;Q96QC0 AB088097;AB103603;AB202094;ABBA01038051;AJ544537;AK307406;AL662800;AL662825;AMYH01016205;BA000025;BC005267;BC136294;BC150310;BU681199;BX119957;BX248507;BX908728;CD615451;CH471081;CR753328;CR759778;NM_002714;NR_072994;Y13247 AAH05267;AAI36295;BAB63324;BAC54929;BAE78613;BAF31264;CAA73697;CAD67521;EAX03303;NP_002705;Q96QC0 Hs.106019 1703170;1710528;1743225;1748399;1850948;1852297;2111174;2217810;5120888;5123360 A007C28;D17Ertd808e;D6S484E;GDB:305493;PPP1R10_1061;RH16237;RH18166;SGC32149;SGC34051;SHGC-86293 CAT53;FB19;PNUTS;PP1R10;R111;p99 HLA-C associated transcript 53;MHC class I region proline-rich protein CAT53;OTTHUMP00000029381;PP1-binding protein of 114 kDa;p99;phosphatase 1 nuclear targeting subunit;phosphatase nuclear targeting subunit;protein phosphatase 1 regulatory subunit 10;protein phosphatase 1, regulatory (inhibitor) subunit 10;protein phosphatase 1, regulatory subunit 10;putative protein phosphatase 1 nuclear targeting subunit;serine/threonine-protein phosphatase 1 regulatory subunit 10 APPROVED protein-coding ENSG00000204569 9284 04797 603771 REVIEWED 1603486 PPP1R12BP1 protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1 Y Y q11.23 26833358 26904213 - 28423970 28494825 - 12815422 360021 AC024067;NG_004755 1790145;2187879;5022955;5115980;5116728;5116730;5116732;5116734;5116736;5116776;5116778 G65925;sY1201;sY1771;sY1772;sY3151;sY3152;sY3153;sY3154;sY3155;sY3177;sY3178 PPP1R12BP;PPP1R12BPY1 APPROVED pseudo 18498 VALIDATED 2881601 PPP1R12BP2 protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2 Y Y q11.223 23934917 23948332 + 25525529 25538944 + 12815422 360020 AC006983;NG_004755 5116728;5116730 sY3151;sY3152 APPROVED pseudo 23970 VALIDATED 732541 PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q13 66922228 66925952 - 67165652 67169376 - 737728;1580722;1580723;2304267;2304325;6480464;6484113;6907045 12024026;10811615;11551964;7720853;14715909 17274640;17511879;8392016;19377461;19074462;18992256;18716057;18483222;17630778;17435217;12065664;12052877;12036952;12036313;11959144;11839776;11588169;11390485;11076525;10995432;10880350;10827081;10807923;10571067;10504266;10358086;10087003;9843442;9461602;9282913;9108011;8889548;8384581;7736790;4092695;2161401;16131488;16048649;11101529;10637318;12724406;12016208;11564868;12147701;10209101;12788942;9269769;11799244;10194355;10830164;15761153;14645548;12138106;12115603;17318175;17202132;17030510;16874461;16619035;16564677;16550609;15635413;15492829;15489334;15231748;15107502;14702039;12931191;12926989;12925532;12914669;12788939;12624094;12477932;12438214;12393858;12370081;12226088;12221103;21145461;20498639;21427225;20516061;11739654;17374523;17643375;17965019;19094064;19364819;19622840;19710015;19826001;6087160;19919952;20186153;20663907;21189257;12410313;18362886;20941529;21106093;22767595;21182205;22863883;22990118;23277204;20424263;20671031;21308747;17314511;15303970;20360068;21081666;21909427;22311981;21139048;21890473;21906983;21963094;18781797;19389623;21566083;21865402;22242915;17332742;22321011;17683050;22479341;22586326;18160256;19945436;22939629;12574161;16582606;19738201;21382349;21706016;21987572;22053931;22284538;22299668;22360570;22365833;22623428;23000965;8749392;14505491;18949366;23197154;23499489;22479519;12434308;17266553;21351466;21360054;21853274;22505724;22768081;23061666;22815811;22940584 5499 E9PMD7;F5H037;F5H1L6;P62136 ABBA01024035;ABBA01024036;AK098311;AK127616;AK313586;AL557336;AMYH01003745;AP003419;BC001888;BC004482;BC008010;BE278068;BE793459;BF526659;BG480286;BM799599;BM982080;BT006629;CH471076;J04759;M63960;NM_001008709;NM_002708;NM_206873;S57501;X70848 AAA36475;AAA36508;AAB26015;AAH01888;AAH04482;AAH08010;AAP35275;BAG36355;BAG54534;CAA50197;EAW74607;EAW74608;EAW74609;EAW74610;NP_001008709;NP_002699;NP_996756;P62136 Hs.183994 1657336;2108381;5096575;5120151 GDB:197566;PPP1CA;PPP1CA_7858;RH45249 MGC15877;MGC1674;PP-1A;PP1A;PP1alpha;PPP1A OTTHUMP00000236398;OTTHUMP00000236399;OTTHUMP00000236400;OTTHUMP00000236401;protein phosphatase 1, catalytic subunit, alpha isoform;serine/threonine protein phosphatase PP1-alpha 1 catalytic subunit;serine/threonine-protein phosphatase PP1-alpha catalytic subunit APPROVED protein-coding ENSG00000172531 9281 15942 176875 REVIEWED 1351604 PPP1R12CP protein phosphatase 1, regulatory (inhibitor) subunit 12C pseudogene 11948623 114239 16409 1345826 PPP1R13AP protein phosphatase 1, regulatory (inhibitor) subunit 13A pseudogene 11948623 94299 16328 731669 PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 2 2 p23 28828118 28879310 + 28974614 29025806 + 2304267;2304325;6480464;6907045 7720853;14715909 20962268;15164081;17274640;17353931;17511879;19377461;19124506;18202305;16381901;16256067;15815621;15489336;15489334;15302935;15231748;14640981;12788939;12665801;12477932;12226088;12036313;11790298;11513739;11399775;11230166;11076863;10906760;9570949;9009195;8889548;8312365;7857673;7796987;12775419;16131488;16048649;10194355;10830164;12016208;11564868;12147701;12185196;21145461;20516061;16712791;12410313;15851553;18586956;20186153;10209101;16341674;22728334;23277204;17369396;20424263;21566537;20133760;22863883;16196087;21466834;21795688;18781797;20360068;21139048;21566083;21890473;21906983;21963094;21987572;19322201;21628590;22586326;23382248;11551964;22939629;17022978;22053931;22284538;22299668;22360570;23000965;23197154;23398456;17266553;21351466;21360054;22505724;22768081;23168335 5500 C9J9S3;C9JP48;E7ETD8;F8WE71;H0Y3Y6;P62140 ABBA01045237;ABBA01045238;ABBA01045239;AC097724;AF092905;AI147919;AK295957;AK303682;AK312329;AK316532;AMYH01010204;AMYH01010205;BC002697;BC012045;BE047402;BI551898;BM835970;BQ933435;BT019744;BU740022;BX477003;BX647295;BX647970;CB111140;CD656807;CD722576;CH471053;CR542263;CR542285;NM_002709;NM_206876;U11005;X80910 AAA85093;AAF01137;AAH02697;AAH12045;AAV38549;AAY24124;BAG35251;BAG58737;BAG64675;BAH14903;CAA56870;CAG47059;CAG47080;CAL37650;EAX00527;EAX00528;EAX00529;EAX00530;NP_002700;NP_996759;P62140 Hs.702907 1336442;1667422;1853613;2125038;2182191;2190523;2217808;7184981 D2S392;D6S1941;EST16D1;PPP1CB_3843;RH69523;SHGC-33158;STS-W67887 MGC3672;PP-1B;PP1B;PP1beta;PPP1CD OTTHUMP00000200967;OTTHUMP00000200968;protein phosphatase 1, catalytic subunit, beta isoform;protein phosphatase 1, catalytic subunit, delta isoform;protein phosphatase 1-beta;protein phosphatase 1-delta;serine/threonine protein phosphatase PP1-beta catalytic subunit;serine/threonine-protein phosphatase PP1-beta catalytic subunit APPROVED protein-coding ENSG00000213639 9282 11792 600590 REVIEWED 734001 PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 q24.1-q24.2 109642127 109665050 - 111157613 111180783 - 1580863;2304325;6480464;6484113;6907045;7241020 14715909;18454172 20516061;10880350;19377461;19369647;19074462;18540044;17996206;17936702;17511879;17274640;17215279;16826568;16344560;16343532;16201749;16131488;15635413;15489334;15231748;15028637;14640981;12788939;12477932;12374792;12226088;12221103;12138106;12036313;12016208;11856740;11790298;11588169;11551964;10807923;10637318;9606212;9414128;8914631;8549741;8394140;8111128;7556599;7500362;7499293;16048649;11104670;10830164;21145461;9009195;10391935;10194355;11564868;12147701;12410313;12567184;14670976;19454010;20948546;19070599;10209101;11739654;17965019;22454514;22863883;22990118;20424263;20733005;20360068;21723128;12624094;21750233;21903422;20305087;12036952;18781797;21139048;21566083;21890473;21906983;21963094;22118674;21110914;22586326;17683050;19322201;21628590;21382349;21397856;21706016;21987572;21988832;22641346;23000965;23197154;23499489;21832049;22939629;8119416;17266553;19250647;20697350;21351466;21360054;22053931;22268729;22505724;22768081;23080069;23088536;23277204 5501 B4DNE3;F8VR82;F8VYE8;F8W0V8;F8W0W8;F8W1A0;P36873 AA781342;AB030255;ABBA01005117;AC144522;AK297882;AMYH01004745;AW575661;BC014073;CH471054;DA472620;DA514523;L07395;NG_030325;NM_001244974;NM_002710;X74008 AAA19823;AAH14073;ACE86748;ACE87434;ADZ16058;BAA82664;BAG60205;CAA52169;EAW97938;EAW97939;EAW97940;NP_001231903;NP_002701;P36873 Hs.79081 1650934;1663691;1695266;2183151;2187247 D12S1327;D12S2097;RH48038;SHGC-62982;UniSTS:76224 PP-1G;PP1C;PP1gamma;PPP1G OTTHUMP00000241460;OTTHUMP00000241461;OTTHUMP00000241465;OTTHUMP00000241466;OTTHUMP00000241467;PP-1G;PP1gamma;protein phosphatase 1, catalytic subunit, gamma isoform;protein phosphatase 1C catalytic subunit;serine/threonine phosphatase 1 gamma;serine/threonine-protein phosphatase PP1-gamma catalytic subunit APPROVED protein-coding ENSG00000186298 9283 08911 176914 REVIEWED 1350582 PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11 This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31633185 31636363 + 30142911 30146089 + 30034932 30038110 + 1580863;6480464 8938444;17353931;9843442;18951879;18450750;17630778;17081983;15592455;15489334;14574404;12477932;9110174;8781118;8619474;8490624;7782091;19851445;16712791;20360068;22286219;22641346 6992 A2BEK1;O60927;Q5SRK2 AB088087;AB202082;ABBA01038041;AF070599;AK310593;AK313175;AL669914;AL671859;AL845439;AMYH01016204;BA000025;BC003144;BC102010;BC102011;BC104750;BX088647;BX927229;CB126242;CH471081;CR388205;CR759763;CR759960;NM_021959;U53588;X81003;X89902 AAC52082;AAH03144;AAI02011;AAI02012;AAI04751;BAB63334;BAC54919;BAE78601;BAG35992;CAC16919;CAC16920;EAX03253;EAX03254;NP_068778;O60927 Hs.82887 1856520;2108879;2160358 G29206;PPP1R11_1755.2;STS-W44579 HCG-V;HCGV;IPP3;MGC125741;MGC125742;MGC125743;TCTE5;TCTEX5 HCG V;OTTHUMP00000029382;hemochromatosis candidate gene V protein;inhibitor-3;protein phosphatase 1 regulatory subunit 11;protein phosphatase 1, regulatory (inhibitor) subunit 11, isoform 1;protein phosphatase inhibitor 3;t-complex-associated-testis-expressed 5 APPROVED protein-coding ENSG00000204619 9285 09449 606670 REVIEWED 1343542 PPP1R12C protein phosphatase 1, regulatory subunit 12C The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] 19 19 19 q13.42 52642307 52667863 - 60294093 60320739 - 55602281 55628927 - 6480464 15469989;14506264;12923170;12477932;11399775;16169070;16243315;20360068;21078624;22137581 54776 B4DME2;B5MEC7;K7EL81;K7ER83;Q9BZL4 AA551617;AB209452;ABBA01068127;ABBA01068128;AC005782;AC010327;AF211968;AF312028;AK027086;AK129529;AK297187;AK297426;AL137618;AMYH01009981;BC008030;BC010628;CH471135;HY013088;NM_001271618;NM_017607 AAG60045;AAH08030;AAI56296;BAB15651;BAC85179;BAD92689;BAG59676;BAG59854;CAB70844;EAW72332;EAW72333;EAW72334;EAW72335;NP_001258547;NP_060077;Q9BZL4 Hs.631579 1791306;1791334 PMC102077P1;PMC104024P1 DKFZp434D0412;LENG3;MBS85;p84;p85 leukocyte receptor cluster (LRC) encoded novel gene 3;leukocyte receptor cluster (LRC) member 3;myosin-binding subunit 85;protein phosphatase 1 myosin-binding subunit of 85 kDa;protein phosphatase 1 myosin-binding subunit p85;protein phosphatase 1 regulatory subunit 12C;protein phosphatase 1, regulatory (inhibitor) subunit 12C APPROVED protein-coding ENSG00000125503 14947 11452 613245 REVIEWED 1350163 PPP1R12A protein phosphatase 1, regulatory subunit 12A Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 12 12 q15-q21 78692317 78852842 - 80167343 80329235 - 1580863;6480464;6907045 17353931;17474147;19167335;8662509;19245366;18776185;18755268;18477460;18079119;18023418;17904578;17081983;15999227;15748895;15723050;15570572;15545284;15489334;15324660;15144186;14702039;12923170;12773565;12600888;12563012;12477932;12220642;11931630;11342221;11287000;11283607;11067852;10601309;10567269;10200412;10087910;9354661;9286714;9200713;1870098;880069;19531490;19701943;19744480;20379614;20202976;20634291;20689807;20801872;21252232;22728334;23182705;16417406;17369396;22863883;22939629;22990118;21115810;21821002;20360068;21139048;21678426;19322201;20473970;22155728;22641346;17620599;22869619;22516431;16498633;19794400;20876399;22190034;23398456;23400010;23419712;23168335 4659 B2RAH5;F8VW28;F8VZN8;H0YHI8;H0YHL8;H0YIL7;H0YIM2;H0YIS3;H0YIS4;O14974 AB042196;ABBA01053499;ABBA01053500;ABBA01053501;AC018476;AC073569;AC074270;AF086032;AF458589;AK057712;AK302692;AK314193;AMYH01004610;AY380574;BC000812;BC013941;BC040375;BC047898;BC062560;BC092481;BC111752;CH471054;D87930;DC350703;NM_001143885;NM_001143886;NM_001244990;NM_001244992;NM_002480 AAH13941;AAH47898;AAH92481;AAI11753;AAM49717;AAQ88438;BAA22378;BAB39107;BAG36872;BAG63921;EAW97351;EAW97352;EAW97353;EAW97354;EAW97355;EAW97356;NP_001137357;NP_001137358;NP_001231919;NP_001231921;NP_002471;O14974 Hs.49582 1655695;1663760;1679273;1710828;1710830;1796546;1853921;1858450;2137673;2154753;2171005;5093046 A009E41;G32488;PPP1R12A_1515;RH11236;RH44805;RH46293;RH70109;RH91540;SHGC-56584;SHGC-84164;SHGC-84179;WI-16785 M130;MBS;MGC133042;MYPT1 OTTHUMP00000242812;OTTHUMP00000242813;OTTHUMP00000242814;OTTHUMP00000242815;myosin binding subunit;myosin phosphatase, target subunit 1;myosin phosphatase-targeting subunit 1;protein phosphatase 1 regulatory subunit 12A;protein phosphatase 1, regulatory (inhibitor) subunit 12A;protein phosphatase myosin-binding subunit APPROVED protein-coding ENSG00000058272 7618 03606 602021 REVIEWED 1345421 PPP1R14BP2 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 2 2 q33.3 208233854 208255207 + 208546314 208546754 + 11948623;11948623 729406;94300 ABBA01062686;AC096772;AMYH01011449;NG_030152 pseudo 16329 INFERRED 1348636 PPP1R14BP3 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 4 140036087 140036528 - 11948623;11948623 100507617;94301 ABBA01069945;AC093602;NG_030217 pseudo 16330 INFERRED 1352099 PPP1R14BP4 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 7 p14.2 36010760 36011174 - 11948623;11948623 94302 AACC02000036;ABBA01056896;AC087072;AMYH01017181;CH236951;NG_030051 pseudo 16331 INFERRED 1312214 PPP1R13B protein phosphatase 1, regulatory subunit 13B This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008] 14 14 q32.33 103269841 103383680 - 104200088 104313927 - 1580863;6480464 16314841;15231748;11684014;14729977;15782125;16139958;15757645;15731768;14702039;12508121;12477932;9872452;15706352;21102414;20601096;20936779;18029348;20034025;20379614;21041410;21041411;21479363;22169642;22321011;22745667;17043677;19850743;22552744;17875712;22068052;23080069;23088536 23368 B3KN04;G3V2L3;G3V3S2;G3V5J1;H0YJG1;H0YJL1;Q96KQ4 AB018314;ABBA01048402;ABBA01048403;ABBA01048404;ABBA01048405;ABBA01048406;ABBA01048407;ABBA01048408;ABBA01048409;ABBA01048410;ABBA01048411;ABBA01048412;AJ318887;AK021580;AK023188;AK125374;AK125913;AK307149;AL049840;AL132712;AMYH01006052;AW295594;BC035446;BC047639;BC136527;CH471061;DB461586;NM_015316 AAI36528;BAA34491;BAC86342;BAG51166;CAC83011;EAW81845;EAW81846;EAW81847;NP_056131;Q96KQ4 Hs.709297 1334937;1671579;1671581;1712787;1773941;1778473;1798008;2114408;2119778;2124524;2124566;2126219;2126454;2138938;2140761;2161811 A001V41;A008C04;D14S1010;G19698;G35416;G35615;G35763;G35800;G36012;G36171;HSC0RB112;PPP1R13B_1759;RH120107;RH69614;RH78568;SHGC-32210 ASPP1;KIAA0771;p53BP2-like;p85 OTTHUMP00000246651;apoptosis-stimulating of p53 protein 1;apoptosis-stimulating protein of p53, 1;protein phosphatase 1 regulatory subunit 13B;protein phosphatase 1, regulatory (inhibitor) subunit 13B APPROVED protein-coding ENSG00000088808 14950 07345 606455 REVIEWED 1342970 PPP1R14BP5 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 6 6 q22.32 126620760 126703014 - 126579070 126579476 - 11948623;11948623 442256;94303 ABBA01025943;AC020559;AMYH01016649;NG_030184 pseudo 16332 INFERRED 1319551 PPP1R12B protein phosphatase 1, regulatory subunit 12B Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011] 1 1 q32.1 200584459 200824320 + 202317830 202557697 + 1580863;6480464 21145461;9570949;18782776;16710414;16431080;15489334;12923170;12477932;11067852;10200412;10087910;9827534;9455484;10567269;9269769;20801872;14702039;16344560;19851296;20198315;20379614;16751776;18029348;20360068;23251661;23398456 4660 E1CKY7;F8W8M3;H7C4R6;Q6GQY8;Q9HCB8 AB003062;AB007972;AB050641;AB050642;AB588820;ABBA01027500;ABBA01027501;ABBA01027502;ABBA01027503;ABBA01027504;AC099336;AF324888;AF324892;AK098261;AK307591;AL049388;AL050133;AL117460;AL356953;AL589762;AMYH01001648;AMYH01001649;AMYH01001650;BC034430;BC071166;BC110907;BC144699;BX501884;CH471067;DA075060;NM_001167857;NM_001167858;NM_001197131;NM_002481;NM_032103;NM_032104 AAH34430;AAH71166;AAI10908;AAI44700;AAK00336;AAK00337;BAA28376;BAB17610;BAB17611;BAJ22080;EAW91416;EAW91417;EAW91418;EAW91419;EAW91420;EAW91421;EAW91422;EAW91423;EAW91424;EAW91425;NP_001161329;NP_001161330;NP_001184060;NP_002472;NP_115286;NP_115287;O60237 Hs.444403 1336792;1666222;1675620;1676518;1679323;1685119;1693016;1701288;1735980;1770817;1790145;1796548;1854970;2155832;2157719;2163416;2166385;2170645;2187879;5015861;5022651;5116740;7185938 AL034216;D10S16;D11S2921;D1S1164;D1S1647;D1S2000E;D1S2583;D1S3286;G34805;G65925;PPP1R12B_1590;RH104273;RH80722;RH81047;RH91233;RH92680;SHGC-37118;SHGC-76158;SHGC-76160;SHGC-76171;sY1201;sY3158 FLJ40942;MGC131980;MGC87886;MYPT2;PP1bp55 OTTHUMP00000038809;OTTHUMP00000038811;OTTHUMP00000216823;myosin phosphatase target subunit 2;myosin phosphatase, target subunit 2;myosin phosphatase-targeting subunit 2;protein phosphatase 1 regulatory subunit 12B;protein phosphatase 1, regulatory (inhibitor) subunit 12B APPROVED protein-coding ENSG00000077157 7619 04794 603768 REVIEWED 733523 PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011] 19 19 q13.1 43433717 43439012 - 38741877 38747231 - 6480464 18835652;18757304;17301291;17237191;16885985;15489334;15234908;15003508;12974676;12477932;12062430;11931393;11467857;10924361;10869555;9237662;8720121;20202976;18482256;20875397;22275376;21832049;21139048;22318606;23275439;23541585 94274 K7EJB8;K7EMN0;Q96A00 AB056508;AB056509;ABBA01040672;ABBA01040673;AC011479;AF123763;AMYH01009779;AY050668;AY050670;BC021089;CH471126;ES314242;NM_001243947;NM_033256 AAH21089;AAL24445;AAL25828;AAP97242;ABM83056;ABM86250;BAB62502;BAB62503;EAW56764;EAW56765;NP_001230876;NP_150281;Q96A00 Hs.631569 CPI-17;CPI17;PPP1INL 17 kDa PKC-potentiated inhibitory protein of PP1;17-KDa protein;17-KDa protein;17-kDa PKC-potentiated inhibitory protein of PP1;PKC-potentiated inhibitory protein of PP1;protein kinase C-potentiated inhibitor protein of 17 kDa;protein phosphatase 1 regulatory subunit 14A APPROVED protein-coding ENSG00000167641 14871 16291 608153 REVIEWED 1353719 PPP1R14BP1 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 22 22 22 q12 15472910 15473886 + 30002537 30003126 + 31672423 31673401 + 12477932;9556220 50516 ABBA01055327;AC002073;AF030942;AMYH01012714;NG_001274;NG_029895 1677174 RH27387 PLCB3NP pseudo 9058 INFERRED 1347285 PPP1R13L protein phosphatase 1, regulatory subunit 13 like IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008] 19 19 q13.32 50574736 50600129 - 45882892 45909607 - 6480464;6484113 10336463;19257887;19246451;19116388;18798069;18588689;18289367;18275817;18201273;17906639;17872376;17570360;17391696;17222938;17131345;17081983;16964264;16964243;16817948;16690207;16344560;16139958;15885892;15661756;15607367;15489900;15489334;15231748;12524540;12477932;12134007;15558054;22538442;19692168;19734419;19773279;20354815;20422457;20600029;21046104;20840860;21192816;21184255;21391736;22351191;23624123;21926165;21625267;21897369;22335888;22552744;21139048;21890473;21998301;22321011;23180017;22815155;22766503;23088536 10848 K7EML6;K7EN03;K7ENG6;K7EPP1;Q8WUF5 ABBA01040923;ABBA01040924;ABBA01040925;ABBA01040926;AC092309;AF078036;AF078037;AJ888472;AK130326;AMYH01009850;AMYH01009851;AY869712;BC001475;BC014499;BC020259;BC020589;BC032298;BC064913;CH471126;DB209153;DQ314886;DQ986418;NM_001142502;NM_006663 AAD27004;AAD27005;AAH01475;AAH20589;AAH32298;AAH64913;AAW51146;ABC40745;ABK76301;BAC85327;CAI60219;EAW57343;EAW57344;EAW57345;NP_001135974;NP_006654;Q8WUF5 Hs.466937 1341082;1773528;2150274;2180884;5016478;5037552 D19S393;D19S543;D8S2279;GDB:434012;STS-R48186;STS-W67936 IASPP;NKIP1;RAI;RAI4 NFkB interacting protein 1;NFkB-interacting protein 1;PPP1R13B-like protein;inhibitor of ASPP protein;inhibitor of apoptosis stimulating protein of p53;protein iASPP;protein phosphatase 1, regulatory (inhibitor) subunit 13 like;protein phosphatase 1, regulatory subunit 13 like;relA-associated inhibitor;retinoic acid induced 4 APPROVED protein-coding ENSG00000104881 18838 09195 607463 VALIDATED 1344402 PPP1R14B protein phosphatase 1, regulatory (inhibitor) subunit 14B 11 11 11 q13 61338832 61341296 - 63768527 63770989 - 64011951 64014413 - 1580863;6480464 21145461;16964243;16341674;15522888;15489334;15083373;12477932;10737800;10606530;8838322;19913121;20628086;22939629 26472 F5GXC4;F5H2U0;Q96C90 ABBA01003291;ABBA01003292;ABBA01003293;ABBA01003294;AF318364;AMYH01003703;AMYH01003704;AP001453;BC014522;BC071884;BC094817;BF155230;BM847221;BT009914;CH471076;NM_138689;X91192;X91195 AAH14522;AAH94817;AAL55871;AAP88916;ACE87010;ACE87699;EAW74226;EAW74227;NP_619634;Q96C90 Hs.523760;Hs.596713 1649068;1659923;1677174 FKBP2;G33075;RH27387 PHI-1;PLCB3N;PNG;SOM172 OTTHUMP00000237042;OTTHUMP00000237043;OTTHUMP00000237044;phospholipase C beta-3 neighboring gene protein;phospholipase C-beta-3 neighbouring gene protein;protein phosphatase 1 regulatory subunit 14B protein-coding ENSG00000173457 9057 18513 601140 VALIDATED 1342864 PPP1R15A protein phosphatase 1, regulatory subunit 15A This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008] 19 19 q13.2 54067461 54071131 + 49375649 49379319 + 1580863;6480464;6484113;6907045 10631107;11564868;9153226;19131336;18794359;17273797;16455055;16344560;16337513;15541008;15231748;14718519;14702039;14635187;12813455;12724406;12556489;12477932;12168790;12016208;11517336;11104688;10490642;10434033;9413226;8125298;16169070;21145461;19776135;19901557;20040105;20800603;14670976;18362886;21518769;22145905;20467438;21988832;23412101 23645 M0QXL1;O75807 ABBA01032963;AC026803;AK001361;AK225632;AK296668;AK297615;AK298765;AMYH01009908;BC003067;CH471177;CR457259;DA484808;HI574240;NM_014330;U83981 AAC25631;AAH03067;ABM82781;ABW03442;BAA91649;BAG59265;BAG59994;BAG60907;CAG33540;CBX47609;EAW52409;NP_055145;O75807 Hs.631593 2129187;2174767;2217814;5114047 PPP1R15A_2892;RH71420;RH81092;STS-R32980 GADD34 growth arrest and DNA damage-inducible protein GADD34;growth arrest and DNA-damage-inducible 34;myeloid differentiation primary response protein MyD116 homolog;protein phosphatase 1 regulatory subunit 15A;protein phosphatase 1, regulatory (inhibitor) subunit 15A APPROVED protein-coding ENSG00000087074 14375 06572 611048 VALIDATED 735966 PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010] 6 6 6 q24.3-q25.3 151198793 151306443 + 150505881 150613221 + 150464188 150571528 + 6480464 19132087;15489334;14702039;14574404;12747765;12477932;11948623;11812771;11564868;20592344;19475667;22939629;16449650;21946350;22318606;23284291 81706 Q8TAE6 ABBA01025663;ABBA01025664;ABBA01025665;ABBA01025666;AF308297;AF407165;AF407166;AK092697;AK096272;AL096708;AL138890;AL355497;AMYH01016741;AMYH01016742;BC015773;CB994599;CH471051;DR003369;NM_030949 AAG48264;AAH15773;AAL83506;AAL83507;ABM83123;ABM86318;EAW47770;EAW47771;NP_112211;Q8TAE6 Hs.486798 1669250;1771943;1849709;2123934;2124350;2127938;2146326;2157104;2219554 D6S1178E;PPP1R14C_2476;RH18265;RH18363;RH37413;RH37415;RH47324;WI-22584;WIAF-1701 CPI17-like;KEPI;NY-BR-81 OTTHUMP00000017412;PKC-potentiated PP1 inhibitory protein;kinase C-enhanced PP1 inhibitor;kinase-enhanced PP1 inhibitor;protein phosphatase 1 regulatory subunit 14C;serologically defined breast cancer antigen NY-BR-81 APPROVED protein-coding ENSG00000198729 14952 17890 613242 VALIDATED 1350290 PPP1R14D protein phosphatase 1, regulatory (inhibitor) subunit 14D Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010] 15 15 15 q15.1 17875542 17888808 - 38894943 38908199 - 41107643 41120907 - 1580863;6480464 15489334;14702039;12974676;12477932;11948623 54866 E9PAT1;Q4V755;Q9NXH3 ABBA01038431;AC012476;AI963626;AK000258;AMYH01006566;AY050671;BC096716;BC098124;BC098150;BC098341;CH471125;NM_001130143;NM_017726 AAH96716;AAH98124;AAH98150;AAH98341;AAL25829;BAA91037;EAW92456;NP_001123615;NP_060196;Q9NXH3 Hs.192927 2217812 PPP1R14D_2784 CPI17-like;FLJ20251;GBPI-1;GBPI1;MGC119014;MGC119016 OTTHUMP00000160541;PKC-dependent PP1 inhibitory protein;gastrointestinal and brain-specific PP1-inhibitory protein 1;gut and brain phosphatase inhibitor 1;protein phosphatase 1 regulatory subunit 14D APPROVED protein-coding ENSG00000166143 14953 17891 613256 VALIDATED 1342795 PPP1R1AP1 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 11 q13.5 75622244 75622668 - 11948623;11948623 94304 ABBA01017459;AMYH01003820;AP003168;NG_030171 pseudo 16316 INFERRED 1322272 PPP1R16B protein phosphatase 1, regulatory subunit 16B The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 20 20 20 q11.23 34145025 34262342 + 36867762 36985081 + 37434348 37551667 + 1580863;6480464 12055102;18586956;15491607;12477932;12168954;11780052;10048485;16263087;21466834;21907835;15761153 26051 H0Y681;Q96T49 AB020630;AB177855;ABBA01052532;ABBA01052533;AF362910;AK026900;AL023803;AL031657;AL121889;AMYH01011906;AMYH01011907;BC026224;BC131801;BC152467;CH471077;NM_001172735;NM_015568 AAI31802;AAI52468;AAK52796;BAA74846;BAD66833;EAW76009;NP_001166206;NP_056383;Q96T49 Hs.45719 1644211;1644213;1662306;1664059;1771061;1798012;2118533;2162729;2170060;5114820 A001V46;A006X16;AL030969;D20S1094;D20S494;D20S557E;G19702;PPP1R16B_1698;SHGC-33075;WI-13717 ANKRD4;KIAA0823;TIMAP CAAX box protein TIMAP;OTTHUMP00000030988;OTTHUMP00000178923;TGF-beta-inhibited membrane-associated protein;ankyrin repeat domain protein 4;ankyrin repeat domain-containing protein 4;hTIMAP;protein phosphatase 1 regulatory inhibitor subunit 16B;protein phosphatase 1, regulatory (inhibitor) subunit 16B APPROVED protein-coding ENSG00000101445 15850 15168 613275 REVIEWED 1345017 PPP1R1AP2 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 16 16 p11.1 34955001 35006635 + 35146391 35146893 + 11948623;11948623 100129627;94305 ABBA01002108;AC116553;AMYH01007638;NG_022518 pseudo 16317 INFERRED 1317432 PPP1R15B protein phosphatase 1, regulatory subunit 15B PPP1R15B promotes dephosphorylation of the transcription initiation factor EIF2-alpha (EIF2S1; MIM 603907) through recruitment of protein phosphatase-1 (PP1) catalytic subunits (see MIM 176875) (Harding et al., 2009 [PubMed 19181853]).[supplied by OMIM, Feb 2010] 1 1 1 q32.1 177507930 177516383 - 202639143 202647542 - 204372492 204380944 - 6480464 15231748;14702039;12477932;11948623;8125298;19181853;23080069;21987572;22915583;21906983;22145905;22321011 84919 Q5SWA1 ABBA01027446;AI363360;AK023680;AK027650;AK222877;AK303535;AL606489;AL833746;AMYH01001662;BC065280;CH471067;NM_032833 AAH65280;BAB55266;BAD96597;BAG64561;CAH56240;EAW91511;NP_116222;Q5SWA1 Hs.304376 1650435;1709814;5022578;5037552;5109281 D1S1423;D1S1425;D8S2279;SHGC-76198;SHGC-84724 CREP;FLJ14744 OTTHUMP00000034337;protein phosphatase 1 regulatory subunit 15B;protein phosphatase 1, regulatory (inhibitor) subunit 15B APPROVED protein-coding ENSG00000158615 14951 17892 613257 VALIDATED 1317459 PPP1R16A protein phosphatase 1, regulatory subunit 16A 8 8 8 q24.3 141897581 141902976 + 145692917 145698312 + 145722109 145727504 + 1580863;6480464 16169070;16920702;16189514;15489334;12477932;11948623;11336659;18029348;19019082;19060904;21509594;23080069;22321011 84988 H0YDB3;H0YDU5;Q96I34 ABBA01005200;ABBA01005201;AC084125;AK090471;AMYH01019155;BC007854;BC049841;BC053506;BT006845;CH471162;NM_032902 AAH07854;AAH49841;AAH53506;AAP35491;ADZ15455;BAC03452;EAW82080;EAW82081;EAW82082;NP_116291;Q96I34 Hs.521937 1647959;1767169;1798010 PPP1R16A_1616;RH1549;SGC33369 MGC14333;MYPT3 OTTHUMP00000228776;likley ortholog of mouse myosin phosphatase targeting subunit 3;myosin phosphatase-targeting subunit 3;protein phosphatase 1 regulatory subunit 16A;protein phosphatase 1, regulatory (inhibitor) subunit 16A APPROVED protein-coding ENSG00000160972 14941 16454 609172 PROVISIONAL 1319936 PPP1R18 protein phosphatase 1, regulatory subunit 18 Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008] 6 6 6 p21.3 32242303 32253809 - 30752145 30761963 - 30644166 30655672 - 737633;6480464 12477932 19622346;17374523;17081983;16344560;15489334;15302935;15221005;14702039;11853319;19851445;21804078;22990118;20360068;22321011;23080069;22505724 170954 B1AZZ6;Q6ZUJ6 AB073600;AB075829;ABBA01038052;ABBA01038053;AK097089;AK124880;AK125639;AK126182;AL662797;AL662798;AL732442;AL832318;AL832742;AL845353;AMYH01016206;BC006176;BC023314;BC047721;BC066644;BX119957;BX248307;BX647622;BX908728;CH471081;CR753328;CR759873;CR788240;CR936878;DA788428;DB278980;DQ988947;NM_001134870;NM_133471;XM_003403597 AAH06176;AAH66644;ABL61261;BAB85535;BAC86229;BAC86478;BAD38640;BAG54110;CAD38613;CAI46080;EAX03318;EAX03319;NP_001128342;NP_597728;Q6NYC8;XP_003403645 Hs.101150 1683573;1739241;1848120;2180393;2185963 D6S1376;RH46627;RH46631;RH81008;SHGC-34551 HKMT1098;KIAA1949 OTTHUMP00000164114;OTTHUMP00000164115;phostensin;protein phosphatase 1 F-actin cytoskeleton targeting subunit;protein phosphatase 1 F-actin cytoskeleton-targeting subunit;protein phosphatase 1 regulatory subunit 18 APPROVED protein-coding ENSG00000146112 29413 610990 VALIDATED 1344493 PPP1R17 protein phosphatase 1, regulatory subunit 17 The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 7 7 7 p15 31713567 31735005 + 31693372 31714594 + 31726631 31748069 + 6480464 10051666;16344560;15489334;12955585;12853948;12477932;9920894;9847074;20379614;22340725;21832049 10842 O96001 AACC02000087;ABBA01056823;ABBA01056824;AC006325;AF071789;AF097730;AK293478;AK312989;AMYH01017153;BC028094;CH471073;DA061079;DB039499;NG_023417;NM_001145123;NM_006658 AAD12588;AAD13030;AAF03537;AAH28094;BAG35826;BAG56969;EAL24441;EAW93983;NP_001138595;NP_006649;O96001 Hs.227011 1685213;1773063;1848785 G30994;GDB:4585197;RH94284 C7orf16;GSBS G-substrate;OTTHUMP00000158793;OTTHUMP00000202600;protein phosphatase 1 regulatory subunit 17 APPROVED protein-coding ENSG00000106341 16973 06820 604088 REVIEWED 1352865 PPP1R26 protein phosphatase 1, regulatory subunit 26 9 9 9 q34.3 108888779 108897869 + 137511469 137520560 + 138371648 138380739 + 737633;6480464 12477932 16053918;15231748;14702039;12421765;9734811;19389623;18029348 9858 Q5T8A6;Q5T8A7 AB014549;ABBA01030037;AK022736;AL161452;AMYH01021838;AMYH01021839;BC017511;BC047935;BC112332;CH471090;NM_014811 AAH17511;AAH47935;BAA31624;EAW88150;EAW88151;NP_055626;Q5T8A7 Hs.533260 1689580;1774591;5094094 A010A01;G34969;WI-21984 KIAA0649;RP11-426A6.6 1A6/DRIM (down-regulated in metastasis) interacting protein;DRIM/UTP20 interacting protein;OTTHUMP00000022537;OTTHUMP00000022538;protein KIAA0649;protein phosphatase 1 regulatory subunit 26 APPROVED protein-coding ENSG00000196422 29089 11099 614056 VALIDATED 5133153 PPP1R26P1 protein phosphatase 1, regulatory subunit 26 pseudogene 1 13 13 29945724 29949339 - 48890995 48894610 - 100418740 ABBA01051005;AL392048;AMYH01005101;NG_024854 1334923;1758753;7187601 D13S153;SHGC-680 KIAA0649P1 APPROVED pseudo 42015 INFERRED 5133156 PPP1R26P2 protein phosphatase 1, regulatory subunit 26 pseudogene 2 22 22 q11.21 18879890 18884070 - 20499893 20503484 - 100133064 ABBA01009187;AC023490;AMYH01012507;NG_022867 KIAA0649P2 APPROVED pseudo 42016 INFERRED 1605582 PPP1R21 protein phosphatase 1, regulatory subunit 21 2 2 2 p16.3 48507697 48582287 + 48521412 48596029 + 48667908 48742531 + 6480464 21145461;14702039;12477932;19389623;22939629;21900206 129285 F8W7E1;F8WBY8;F8WE40;H7C1Y1;Q96ES8 AA449986;ABBA01075189;ABBA01075190;ABBA01075191;ABBA01075192;ABBA01075193;AC093635;AK122900;AK172753;AK172762;AK307755;AMYH01010333;AY092062;AY134855;BC011978;BC040721;BC111059;BC117279;BC143463;BC143466;CH471053;NM_001135629;NM_001193475;NM_152994;NR_024188 AAH11978;AAH40721;AAI11060;AAI17280;AAI43464;AAI43467;AAN08625;AAX93161;BAD18739;BAD18745;EAX00197;EAX00198;EAX00199;EAX00200;EAX00201;NP_001129101;NP_001180404;NP_694539;Q6ZMI0 Hs.654619 1663515;2127415 SHGC-34039;WI-18131 CCDC128;FLJ16566;KLRAQ1;MGC111781 KLRAQ motif containing 1;KLRAQ motif-containing protein 1;OTTHUMP00000159449;OTTHUMP00000159450;OTTHUMP00000200476;coiled-coil domain containing 128;coiled-coil domain-containing protein 128;protein phosphatase 1 regulatory subunit 21;smooth muscle myosin heavy chain 11 isoform SM1-like APPROVED protein-coding ENSG00000162869 30595 17294 VALIDATED 5133159 PPP1R26P3 protein phosphatase 1, regulatory subunit 26 pseudogene 3 22 22 q11.21 19000709 19004956 - 20672398 20674370 - 100132173 AC011718;AMYH01012579;NG_022868 KIAA0649P3 APPROVED pseudo 42017 INFERRED 5133158 PPP1R26P4 protein phosphatase 1, regulatory subunit 26 pseudogene 4 22 22 q11.21 17082742 17086961 + 18703328 18706958 + 100132295 AC008132;NG_022874 KIAA0649P4 APPROVED pseudo 42018 INFERRED 737038 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A 12 12 12 q13.2 54624894 54634311 - 53259291 53268710 - 54973024 54982443 - 1580863;6480464;6907045 11564868;8611507;18698139;18192322;15489334;15345721;15342556;12477932;9920093;20628086;19913121 5502 F8VR76;H0YIU4;Q13522;R4GMQ8 ABBA01008376;AC079310;AK123969;AMYH01004489;AY063766;BC022470;BM876308;BP211831;CH471054;CR457003;NM_006741;U48707 AAB02402;AAH22470;AAL48321;BAC85737;CAG33284;EAW96792;NP_006732;Q13522 Hs.505662 1671034;1796550;2152849;2179633;5014753;5123971 A007D03;PPP1R1A_1820;RH44485;RH45416;RH78688;RH93498 I1;IPP1 I-1;IPP-1;OTTHUMP00000242489;OTTHUMP00000242490;inhibitor-1;protein phosphatase 1 regulatory subunit 1A;protein phosphatase inhibitor 1;protein phosphatase inhibitor-1 protein-coding ENSG00000135447 9286 17893 613246 VALIDATED 5133157 PPP1R26P5 protein phosphatase 1, regulatory subunit 26 pseudogene 5 22 22 q11.21 20016703 20029547 + 21695885 21697858 + 100133040 AP000552;NG_022876 KIAA0649P5 APPROVED pseudo 42019 INFERRED 5133160 PPP1R2P10 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 10 13 13 q21.31 63283257 63283950 - 64384482 64386061 - 100128626 ABBA01050255;AL445238;AMYH01005177;NG_029109 pseudo 42008 INFERRED 1351328 PPP1R1C protein phosphatase 1, regulatory (inhibitor) subunit 1C Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010] 2 2 2 q31.3 176446274 176578147 + 182558796 182690664 + 182818968 182996109 + 1580863;6480464 18310074;12477932;11948623;19874272;20379614;20468071;22939397;7566098 151242 Q53TF4;Q8WVI7 AA321774;ABBA01062291;AC009962;AC011291;AC064837;AF494535;AK129898;AK311571;AMYH01011315;BC017943;BI792375;BX647581;CH471058;NM_001080545;NM_001261424;NM_001261425;NR_048566;NR_048567 AAH17943;AAM18054;AAY14914;AAY24129;CAI46089;EAX10976;EAX10977;NP_001074014;NP_001248353;NP_001248354;Q8WVI7 Hs.10941 1715237;1726701;1776633;2122183;2124994;2166181 AFM275XG9;G62587;RH119869;RH68859;RH68882;STS-W86489 IPP5 Inhibitor-1-like;OTTHUMP00000205518;OTTHUMP00000205519;OTTHUMP00000205520;PP1 inhibitor protein 5;inhibitor-5 of protein phosphatase 1;protein phosphatase 1 regulatory subunit 1A;protein phosphatase 1 regulatory subunit 1C APPROVED protein-coding ENSG00000150722 14940 613240 VALIDATED 1344138 PPP1R2P2 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 21 21 21 q22.13 22458357 22460191 + 36181257 36182694 + 37259190 37261024 + 10830953 54036 ABBA01057375;AF020802;AMYH01012221;NG_000913;NG_011402 pseudo 9290 INFERRED 1346291 PPP1R2P4 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 13 13 13 q14.13 28067020 28067823 - 45909639 45910333 - 47011529 47012332 - 11948623;22863883 728970 ABBA01050990;AL138686;NG_011458 pseudo 16319 INFERRED 1348869 PPP1R2P5 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 2 2 q12.3 106923768 106978521 - 107557339 107557941 - 11948623;11948623 649489;94307 ABBA01043979;AC005040;AMYH01010846;NG_021516 1714953;1769242 RH120814;SHGC-30979 pseudo 16320 INFERRED 1353440 PPP1R2P1 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 6 6 6 34395839 34396510 - 32952228 32955772 - 32844255 32847851 - 11696978;8568858;7949733;11181995 100507444 Q96PQ5 ABBA01038132;ABBA01038133;AF275684;AL669918;AL671681;AL935043;AMYH01016239;BX088556;BX927138;CH471081;CR752645;CR759798;CR936913;NG_027882;X87344 AAL09300;EAX03655;Q96PQ5 Hs.730139 IPP-2P;PPP1R2P pseudo 9289 INFERRED 1343404 PPP1R2P8 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 5 20997273 20998857 + 11948623;11948623 94310 ABBA01054525;AC140168;AMYH01014960;NG_031921 pseudo 16323 INFERRED 1352861 PPP1R2P7 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 7 11948623 94309 16322 1351514 PPP1R2P6 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 7 7 q34 139557049 139639515 + 139992552 139993139 + 11948623;11948623 100130972;94308 AACC02000022;ABBA01034062;AC005377;AC093087;AMYH01017985;CH236950;NG_022575 1786244;1786428;2157966 D7S2861;SHGC-133034;SHGC-172032 pseudo 16321 INFERRED 1343622 PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 3 3 q29 196722513 196751362 - 195241221 195270224 - 1580863;6480464 12393858;8119416;9126490;19036150;18716057;17081983;16987514;16627625;15489334;15302935;12761178;12697755;12665801;12477932;12270929;12221103;11320080;10807923;9405437;8288648;7949733;17353931;17207965;22863883;21382349;23000965;23506001;22939629;21714498;20360068;22321011;19322201;21044950 5504 E7EMN6;E7EUI7;H7C416;P41236;Q6NXS2 AA259068;ABBA01001605;ABBA01001606;ABBA01001607;AC091633;AJ133812;AMYH01013786;AY063767;BC007655;BC066921;CH471052;NM_006241;U68111;X78873;Y13810;Z29646 AAC51206;AAH07655;AAH66921;AAL48322;ADQ32784;CAA55475;CAA82754;CAB41680;EAW78025;NP_006232;P41236 Hs.535731;Hs.706920 1668782;1678657;1735184;1735268;1796552;1848157;1857020;2139753;2150346;5107962;5117168 A006H01;D3S2826E;D3S2923E;D5S2660;G20795;GDB:451568;PPP1R2_1377;RH17847;RH38934;SHGC-12023;WIAF-1664 IPP-2;IPP2;MGC87148 IPP-2;OTTHUMP00000208848;OTTHUMP00000208849;phosphatase inhibitor 2;phosphoprotein phosphatase;protein phosphatase inhibitor 2 1643250;1643508;2314773 BW134_H;BW262_H;GLUCO107_H protein-coding ENSG00000184203 9288 03478 601792 VALIDATED 1347073 PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 17 17 q12 35036705 35046404 + 37783177 37792878 + 1580863;6480464 10604473;19463699;19156168;19124506;19086053;19077115;19059449;19058789;18954090;18808062;18579663;18573638;18470533;18270970;18199533;18058465;18055181;17948899;17695523;17618027;17521792;17492506;17290303;17171661;17117180;17027969;16750903;16061638;15489334;15345721;15188007;15010812;14991576;14702039;14508844;12477932;12124342;11134138;9920093;9108011;8125298;8120638;6319627;6087160;2557337;2191086;2153935;1791981;1721636;1663529;16169070;21447180;20836878;19301121;19651774;19874574;19897079;20074680;20468064;20483474;6330098;20580047;19913121;20628086;21041608;20874815;16344560;21369787;21453742;23250204;21741919;20631684;23080070;22179181;17683050;22576830;22559203;22589394 84152 B3KVQ9;J3KSJ8;J3KT77;Q9UD71 ABBA01031861;AC087491;AF233349;AF435972;AF435973;AF435974;AF435975;AF464196;AK024593;AK123112;AK123950;AK124417;AK127542;AK129537;AK225058;AMYH01008375;AY070271;BC001519;BT007076;BX648641;CH471152;CS566124;DA136306;NG_030330;NM_001242464;NM_032192;NM_181505 AAF43435;AAH01519;AAL59016;AAM76683;AAP35094;AAP35095;AAP35096;AAP35097;AAP35098;AAP35739;BAB14931;BAG53871;BAG54520;CAN37612;EAW60580;EAW60581;EAW60582;EAW60583;NP_001229393;NP_115568;NP_852606;Q9UD71 Hs.286192 1672006;1675612;2218586 PPP1R1B_4142;RH66410;WI-19537 DARPP-32;DARPP32;FLJ20940 OTTHUMP00000164273;OTTHUMP00000164274;OTTHUMP00000164275;OTTHUMP00000164276;dopamine and cAMP regulated phosphoprotein;dopamine and cAMP-regulated neuronal phosphoprotein 32;dopamine- and cAMP-regulated neuronal phosphoprotein;protein phosphatase 1 regulatory subunit 1B;protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32) APPROVED protein-coding ENSG00000131771 9287 05097 604399 REVIEWED 7246803 PPP1R26-AS1 PPP1R26 antisense RNA 1 9 138354564 138364095 - 12477932;14702039 100506599 ABBA01030036;AK096249;AL161452;AMYH01021838;BC043225;BX100027;NR_038969 Hs.561897;Hs.634397 5020946;5020948 G35510;L17971 miscrna ENSG00000225361 48717 VALIDATED 1344126 PPP1R2P3 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 5 5 5 q33.3 152303269 152305259 + 156210127 156212117 + 156277549 156279539 + 15489334;12477932;11948623;7949733;21382349;23506001 153743 Q6NXS1 ABBA01044278;AC008491;AC011414;AMYH01015740;BC066922;JF438008;NR_038443 AEB77711;Q6NXS1 Hs.567727 1668782;1678657;2150346 RH17847;RH38934;SHGC-12023 MGC87149 pseudo ENSG00000231989 16318 VALIDATED 1345869 PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9 X X X p11.3 46780033 46780902 - 42521561 42522430 - 42636617 42637486 - 1580863;6480464 11076525;15772651;15489334;12477932;11948623;11883959;7949733 80316 O14990 AB044137;ABBA01046530;AMYH01022238;BC056673;CH471141;NR_002191;Z94277 BAB18974;EAW59387;O14990 Hs.127689 I-4 pseudo 16324 06593 PROVISIONAL 1604503 PPP1R35 protein phosphatase 1, regulatory subunit 35 7 7 7 q22.1 94762711 94763893 - 99870848 99872030 - 100032912 100034094 - 6480464 15489334;12690205;12477932;19389623 221908 Q8TAP8 AACC02000084;ABBA01013213;AC092849;AMYH01017734;BC026269;CH236956;CH471091;NM_145030 AAH26269;EAL23833;EAW76532;NP_659467;Q8TAP8 Hs.413359 1699238;1788232;2170762;5093968 A009Z42;D7S3095;G33029;RH103200 C7orf47;MGC22793 OTTHUMP00000215765;UPF0683 protein C7orf47;hypothetical protein LOC221908;protein phosphatase 1 regulatory subunit 35;protein phosphatase 1, regulatory subunit 35 APPROVED protein-coding ENSG00000160813 28320 14486 PROVISIONAL 2293904 PPP1R37 protein phosphatase 1, regulatory subunit 37 19 19 19 q13.32 42400500 42454809 + 50288251 50341570 + 45596431 45650543 + 6480464 12477932;11853319;16189514;19389623;15231748;23565137 284352 F5H3P7;J3KQ98;O75864 AB075866;ABBA01040911;ABBA01040912;AC005757;AC011489;AMYH01009848;AMYH01009849;BC035704;BC039061;CH471126;NM_019121 AAC62258;AAH35704;BAB85572;EAW57324;NP_061994;O75864 Hs.285363 1662495;1687483;1690502;1693944;2177060;5014051;5037552 D19S859;D8S2278;D8S2279;G42666;RH98737;SHGC-1350;SHGC-58259 KIAA1986;LRRC68 OTTHUMP00000238041;leucine rich repeat containing 68;leucine-rich repeat-containing protein 68;protein phosphatase 1 regulatory subunit 37 APPROVED protein-coding ENSG00000104866 27607 VALIDATED 1346366 PPP1R27 protein phosphatase 1, regulatory subunit 27 17 17 17 q25.3 76394832 76396390 - 77384657 77386215 - 79791368 79792926 - 6480464 16344560;15489334;14702039;12477932;19389623;21890473 116729 I3L267;Q86WC6 AA722724;ABBA01019648;AC174470;AF434846;AK096888;AMYH01008721;BC093707;BC112094;BI826571;BX281734;CH471099;DA894509;NM_001007533 AAH93707;AAI12095;AAO67357;EAW89686;NP_001007534;Q86WC6 Hs.454720 5493239 UniSTS:485422 DYSFIP1;MGC138299 dysferlin interacting protein 1;dysferlin interacting protein 1 (toonin);dysferlin-interacting protein 1;dysferlin-interacting protein 1 (toonin);protein phosphatase 1 regulatory subunit 27;toonin APPROVED protein-coding ENSG00000182676 16813 17334 VALIDATED 735928 PPP1R32 protein phosphatase 1, regulatory subunit 32 11 11 11 q12.2 58583952 58593767 + 61005168 61014975 + 61248585 61258400 + 6480464 15489334;14702039;12477932;15018803;16344560;21382349;21832049;19389623 220004 F5GZJ9;F5H272;G3F4G3;H0YF82;H0YFZ1;Q7Z5V6 ABBA01003201;AK057333;AMYH01003678;AP003108;BC043246;BC053995;BI561157;CH471076;DB047394;JF442033;NM_001170753;NM_145017 AAH43246;AAH53995;AEO12128;BAB71432;EAW73947;EAW73948;EAW73949;NP_001164224;NP_659454;Q7Z5V6 Hs.729003 C11orf66;FLJ32771;IIIG9 OTTHUMP00000238200;OTTHUMP00000238201;protein phosphatase 1 regulatory subunit 32;uncharacterized protein C11orf66 APPROVED protein-coding ENSG00000162148 28869 16933 VALIDATED 1319175 PPP1R36 protein phosphatase 1, regulatory subunit 36 14 14 14 q23.3 45074349 45113828 + 64086373 64125849 + 65016620 65056096 + 6480464 15489334;14702039;12477932;19389623 145376 E9PLB5;G3V4N3;G3V5S6;Q96LQ0 ABBA01018364;ABBA01018365;AK058044;AK130365;AL049869;AMYH01005799;BC068989;CH471061;NM_172365 AAH68989;BAB71637;EAW80868;NP_758953;Q96LQ0 Hs.144696 C14orf50 OTTHUMP00000180670;hypothetical protein LOC145376;protein phosphatase 1 regulatory subunit 36;protein phosphatase 1, regulatory subunit 36;uncharacterized protein C14orf50 APPROVED protein-coding ENSG00000165807 20097 08505 PROVISIONAL 1346810 PPP1R3G protein phosphatase 1, regulatory subunit 3G 6 6 6 p25.1 6312541 6314276 + 5030719 5031860 + 5085720 5087455 + 6480464 11948623;22321011 648791 B7ZBB8 ABBA01022005;AI089064;AL035653;AMYH01016048;NM_001145115 B7ZBB8;NP_001138587 Hs.653089 OTTHUMP00000209238;protein phosphatase 1 regulatory subunit 3G;protein phosphatase 1, regulatory (inhibitor) subunit 3G;putative protein phosphatase 1 regulatory inhibitor subunit 3G APPROVED protein-coding ENSG00000219607 14945 VALIDATED 1319302 PPP1R3C protein phosphatase 1, regulatory subunit 3C This gene encodes a regulatory subunit of protein phosphatase-1 (PP1). PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities: neuronal, muscular, RNA splicing, protein synthesis, cell death, and glycogen metabolism, to name just a few. By interacting with different regulatory subunits, PP1 is directed to different parts of the cell, to different substrates, or to respond to extracellular signals. [provided by RefSeq, Oct 2011] 10 10 10 q23-q24 87131841 87136500 - 93378179 93382838 - 93388197 93392858 - 1580863;2306167;6480464;6907045 11716774 8985175;19171932;16381901;15489336;12477932;11256614;11230166;11076863;10222257;9414128;20888814;14532330;16385451;18070875;15342556;18029386;21738631;21832049;21900206;22321011;19322201;23080069 5507 Q9UQK1 ABBA01021925;AF087874;AF110824;AI766011;AK299392;AK299398;AK313149;AL359986;AMYH01002944;BC012625;BP202053;BX537399;CH471066;NM_005398;Y18207 AAD33215;AAH12625;AAM10502;BAG35967;BAG61377;BAG61382;CAA77082;CAD97641;CAL37969;EAW50107;NP_005389;Q9UQK1 Hs.303090;Hs.700228 1796558;1854816;2147580 A004S47;PPP1R3C_1514;WI-11129 PPP1R5 OTTHUMP00000020089;PP1 subunit R5;PTG;Phosphatase 1, regulatory inhibitor subunit 5;protein phosphatase 1 regulatory subunit 3C;protein phosphatase 1 regulatory subunit 5;protein phosphatase 1, regulatory (inhibitor) subunit 3C;protein targeting to glycogen 2314830 INSUL25_H APPROVED protein-coding ENSG00000119938 9293 04298 602999 VALIDATED 1344962 PPP1R3B protein phosphatase 1, regulatory subunit 3B This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011] 8 8 8 p23.1 8122001 8136452 - 9031175 9045630 - 8993764 9009152 - 2306167;2304267;2304325;6480464;6907045 11716774;7720853;14715909 11948623;7498521;17555403;16344560;15231748;14702039;12477932;17207965;20864672;11872655;16907705;21300955;21347282;22581228;22832961;20686565;22001757;21988832;23049088;22916037;23505323 79660 Q86XI6 ABBA01026910;AC022784;AI078688;AI263711;AK024067;AK091994;AK096119;AMYH01018466;BC043388;BQ431880;CH471157;DA100998;DB282578;NG_028089;NM_001201329;NM_024607 AAH43388;ADQ33125;BAB14811;BAG53215;EAW65572;NP_001188258;NP_078883;Q86XI6 Hs.458513 1727253;1735762;1774579;1796556;2156246;2160891;5037552;5109281 D1S1425;D8S1371E;D8S2279;G62882;PPP1R3B_1063;RH16360;SHGC-35151;STS-R62377 FLJ14005;FLJ34675;GL;PPP1R4;PTG OTTHUMP00000159678;OTTHUMP00000224512;PP1 subunit R4;hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL;hepatic glycogen-targeting subunit, G(L);protein phosphatase 1 regulatory subunit 3B;protein phosphatase 1 regulatory subunit 4;protein phosphatase 1 subunit GL;protein phosphatase 1, regulatory (inhibitor) subunit 3B APPROVED protein-coding ENSG00000173281 14942 17894 610541 REVIEWED 1353330 PPP1R3F protein phosphatase 1, regulatory subunit 3F This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X p11.23 52519831 52538087 - 49013261 49031021 + 49126306 49144557 + 6480464 18029348;14702039;12477932;11948623;20398921;20479760;8938429 89801 F5H262;H7C546;Q0D2I0;Q6ZSY5 ABBA01046143;ABBA01046144;ABBA01046145;ABBA01046146;ABBA01046147;ABBA01046148;ABBA01046149;AC232271;AC233302;AF235097;AI694535;AI699647;AK056297;AK056909;AK127066;AK303738;AMYH01022294;BC110405;BC131588;BE670223;BF726691;CH471224;DC412626;NG_021273;NM_001184745;NM_033215 AAI10406;AAI31589;BAC86811;BAG51670;BAG51824;BAG64711;EAW50670;NP_001171674;NP_149992;Q6ZSY5 Hs.433652 1702608;1788982;1857330;2043308;2217816;5015861;5015959;5016478;5020946;5022425;5037536;5037552;5037554;7185938 D10S16;D10S2448;D22S296;D8S2279;D8S2282;DXS573;DXS9823E;G65570;GDB:434012;L17971;PPP1R3F_3283;REN92704;SHGC-37390 Hb2E;R3F OTTHUMP00000025837;OTTHUMP00000025838;OTTHUMP00000216989;OTTHUMP00000216990;OTTHUMP00000216991;protein phosphatase 1 regulatory subunit 3F;protein phosphatase 1, regulatory (inhibitor) subunit 3F APPROVED protein-coding ENSG00000049769 14944 15170 REVIEWED 1318988 PPP1R3E protein phosphatase 1, regulatory subunit 3E 14 14 14 q11.2 3627819 3634764 - 22832901 22841835 - 23765112 23772057 - 2306166 15752363 14702039;12477932;11948623;19773279;22321011 90673 H0YLE3;H0YM26;H0YMB9;H0YMS8;H0YNQ2;Q9H7J1 ABBA01061318;AK024489;AK091943;AK296016;AL049829;AMYH01005603;AW663470;BC039400;BX161476;BX248758;CH471078;CQ859798;NM_001276318;NR_026862 BAB15779;BAG58786;CAD61931;CAD66565;CAH25949;EAW66170;EAW66172;EAW66173;NP_001263247;Q9H7J1 Hs.601513 1685640;1697330;1857675;2126338 RH102162;RH78773;RH98727;SHGC-30969 KIAA1443 protein phosphatase 1 regulatory subunit 3E;protein phosphatase 1, regulatory (inhibitor) subunit 3E APPROVED protein-coding ENSG00000235194 14943 VALIDATED 1352990 PPP1R8P1 protein phosphatase 1, regulatory subunit 8 pseudogene 1 1 1 1 p33 47077356 47078528 - 48563233 48564405 - 48790646 48791818 - 10103062 5512 ABBA01050804;AF064758;AL359959;AMYH01000599;NG_001178 PPP1R8P APPROVED pseudo 9297 INFERRED 1343572 PPP1R3A protein phosphatase 1, regulatory subunit 3A The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008] 7 7 q31.1 113301622 113346300 - 113516882 113559082 - 1601468;1601469;1601446;1580863;2311596;2304325;2311552;2311515;2311532;2311560;2311531;2311405;2311445;6480464;6484113;6907045;7240710 7581368;9814479;12118251;12831406;14715909;10868947;9653600;10389856;11793847;9726244;19553562;19520786 19056482;18232732;17081983;16276364;15870946;15489334;15231141;15181086;14767904;12941760;12853948;12690205;12477932;12185156;11512679;11076863;10648825;9845327;7926294;2558013;17511879;19578796 5506 C9JZB3;Q16821 AACC02000001;ABBA01057832;ABBA01057833;AC092465;AC093598;AF024576;AF024578;AF024579;AMYH01017873;BC017405;BC056666;BC070313;BC126451;BC126453;BF576879;CH236947;CH471070;DB527300;NG_012116;NM_002711;X78578 AAB94596;AAB94597;AAI11453;AAI26452;AAI26454;AAP22361;AAS07492;ADR83347;CAA55316;EAL24370;EAW83477;EAW83478;NP_002702;Q16821 Hs.458309 1666398;1690310;1745819;1855918;2156754 D7S2036E;G15866;GDB:676491;RH91845;SHGC-12021 GM;PP1G;PPP1R3 OTTHUMP00000211089;RG1;glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle;glycogen-associated regulatory subunit of protein phosphatase-1;protein phosphatase 1 glycogen- associated regulatory subunit;protein phosphatase 1 glycogen-associated regulatory subunit;protein phosphatase 1 regulatory subunit 3A;protein phosphatase 1 regulatory subunit GM;protein phosphatase 1, regulatory (inhibitor) subunit 3A;protein phosphatase type-1 glycogen targeting subunit;serine /threonine specific protein phosphatase;type-1 protein phosphatase skeletal muscle glycogen targeting subunit APPROVED protein-coding ENSG00000154415 9291 02950 600917;604367 REVIEWED 1606658 PPP1R42 protein phosphatase 1, regulatory subunit 42 8 8 8 q13.1 63893786 63934229 - 68062920 68103340 - 67900366 67940786 - 6480464 12477932;21906983 286187 G3V118;Q7Z4L9 ABBA01041886;AC110998;AMYH01018775;AMYH01018776;BC055413;CH471068;NM_001013626 AAH55413;EAW86927;NP_001013648;Q7Z4L9 Hs.583933 LRRC67;TLLR;dtr OTTHUMP00000227374;leucine rich repeat containing 67;leucine-rich repeat-containing protein 67;protein phosphatase 1 regulatory subunit 42;testis leucine-rich repeat APPROVED protein-coding ENSG00000178125 33732 14573 PROVISIONAL 1315049 PPP1R3D protein phosphatase 1, regulatory subunit 3D Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008] 20 20 20 q13.3 55252565 55256030 - 57945282 57948747 - 58511887 58515352 - 625590;1580863;2306167;6480464;6907045 9275233;11716774 9414128;15489334;12477932;11780052;15778465;17474147;22321011 5509 O95685;Q86X09 ABBA01005956;AL109928;AMYH01012028;BC047502;BC074860;BC074861;BX647298;CH471077;NM_006242;Y18206 AAH47502;AAH74860;AAH74861;CAA77081;EAW75425;NP_006233;O95685 Hs.42215 1796560;2133786;2187588;5492639;5492699 PPP1R3D_1243;STS-H96648;UniSTS:481878;UniSTS:482069;WI-11651 DKFZp781L2441;PPP1R6 OTTHUMP00000031436;PP1 subunit R6;protein phosphatase 1 regulatory subunit 3D;protein phosphatase 1 regulatory subunit 6;protein phosphatase 1, regulatory (inhibitor) subunit 3D;protein phosphatase 1, regulatory subunit 6, spinophilin;protein phosphatase 1-binding subunit R6 APPROVED protein-coding ENSG00000132825 9294 04507 603326 REVIEWED 1342834 PPP2CBP1 protein phosphatase 2, catalytic subunit, beta isozyme pseudogene 1 16 16 16 p11.2 28490176 28491625 - 31724594 31726235 + 31817193 31818642 + 10493829;8383590 5517 ABBA01042102;AC002519;AMYH01007510;NG_004793 2130809;2155039;2217822 D8S1928;D8S2038;PPP2CB_3846 PPP2CBP APPROVED pseudo 9301 INFERRED 733635 PPP1R9B protein phosphatase 1, regulatory subunit 9B Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions from dendritic shafts that receive most of the excitatory input in the central nervous system (Allen et al., 1997 [PubMed 9275233]).[supplied by OMIM, Mar 2008] 17 17 q21.33 45566100 45582876 - 48211101 48227877 - 625590;1580863;6480464 9275233 11278317;19165527;19151759;19130477;15465982;14702039;12531897;12477932;12417592;12270929;12230305;11154706;10514494;10391935;10194355;9653190;14550532;21890473;15231748;15728359;17482550;19615732;20360004;20468064;22369787;22990118;22210881;22321011;22054094;23080069;22284538;23591196;19094064;19380743;22922354 84687 D3DTX6;Q96SB3 ABBA01041227;AC002401;AI056581;AJ401189;AK054907;AL157449;AL713642;AMYH01008471;BC008564;BC011232;BC016162;BF109903;CB052174;CH471109;NM_032595 AAH08564;AAH16162;BAG51442;CAC37685;CAD28455;EAW94636;EAW94637;EAW94638;NP_115984;Q96SB3 Hs.514323 1729788 D17S588 FLJ30345;PPP1R6;PPP1R9;SPINO;Spn neurabin II;neurabin-2;neurabin-II;nuerabin 2;protein phosphatase 1 regulatory subunit 9B;protein phosphatase 1, regulatory (inhibitor) subunit 9B;protein phosphatase 1, regulatory subunit 9B, spinophilin;spinophilin APPROVED protein-coding 9298 04506 603325 VALIDATED 1317789 PPP1R7 protein phosphatase 1, regulatory subunit 7 2 2 2 q37.3 235759626 235792623 + 241738575 241771112 + 242089902 242122439 + 1580863;6480464 10231361;17353931;7498485;17630778;17081983;15489334;12477932;12226088;7670491;22801782;20921135;19019082;22863883;21399659;20360068;21139048;21890473;21900206;21906983;22318606;22505724 5510 B5MBZ8;B5MCY6;C9J177;C9JD73;C9JRC4;H7C003;H7C118;H7C3Q5;Q15435 ABBA01006039;ABBA01006040;AC005237;AF067134;AF067136;AK294043;AK308015;AMYH01011628;BC000910;BC012397;BC013001;BC051689;BT007296;BT020134;CH471063;NM_002712;Z50749 AAD26610;AAD26611;AAD26612;AAD26613;AAH00910;AAH12397;AAH13001;AAP35960;AAV38936;BAG57395;CAA90626;EAW71243;EAW71244;EAW71245;NP_002703;Q15435 Hs.36587 1659101;1734246;2175085;2176976;2177123;2187426 D2S1499E;D2S1647E;D2S2839;HSC11F082;RH65708;RH66016 SDS22 OTTHUMP00000164571;OTTHUMP00000200381;OTTHUMP00000200382;OTTHUMP00000200398;OTTHUMP00000200399;OTTHUMP00000200401;OTTHUMP00000200402;OTTHUMP00000200404;OTTHUMP00000200425;protein phosphatase 1 regulatory subunit 22;protein phosphatase 1 regulatory subunit 7;protein phosphatase 1, regulatory (inhibitor) subunit 7;protein phosphatase 1, regulatory subunit 7;protein phosphatase-1 regulatory subunit 7 alpha2;protein phosphatase-1 regulatory subunit 7 beta1;protein phosphatase-1 regulatory subunit 7 beta2 APPROVED protein-coding ENSG00000115685 9295 04192 602877 PROVISIONAL 1350094 PPP1R9A protein phosphatase 1, regulatory subunit 9A This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 q21.3 89235114 89624424 + 94374885 94763663 + 94536949 94925727 + 1580863;6480464 16344560;14702039;12853948;12690205;12477932;10574462;8125298;12052877;10504266;10514494;9362513;19913121;20628086;12270929;15286155;19615732;20423481;9653190;21890473;22284538;23000965 55607 B7ZLX4;C9J3G5;C9J730;F8W7J9;Q9ULJ8 AACC02000013;AB033048;ABBA01045778;ABBA01045779;ABBA01045780;ABBA01045781;AC002429;AC004022;AC073886;AC073890;AK000075;AK096514;AK225204;AMYH01017698;AMYH01017699;BC037849;BC130449;BC144108;BC144109;BC150636;CH236949;CH471091;DA497168;NG_015803;NM_001166160;NM_001166161;NM_001166162;NM_001166163;NM_017650 AAC35294;AAI30450;AAI44110;AAI50637;BAA86536;BAA90928;EAL24134;EAW76776;NP_001159632;NP_001159633;NP_001159634;NP_001159635;NP_060120;Q9ULJ8 Hs.21816 1339758;1649457;1669549;1676824;1706336;1708788;1715899;1723427;1772212;1857310;2131203;2160370;2168818;2174478;2191245;2217818;5092972;7184845 A009D19;D17S2137;D7S1489;D7S2160E;D7S2388E;G32444;L17990;MARC_16745-16746:1020448619:1;PPP1R9A_3181;RH118529;RH11976;RH122684;RH12399;RH45602;RH98568;SHGC-80734;SHGC-81053 FLJ20068;KIAA1222;NRB1;NRBI;Neurabin-I OTTHUMP00000208240;OTTHUMP00000208241;OTTHUMP00000208242;neurabin-1;neural tissue-specific F-actin-binding protein I;protein phosphatase 1 regulatory subunit 9A;protein phosphatase 1, regulatory (inhibitor) subunit 9A APPROVED protein-coding ENSG00000158528 14946 602468 REVIEWED 1314810 PPP1R8 protein phosphatase 1, regulatory subunit 8 This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008] 1 1 p35.3 28029880 28050770 + 28157252 28178183 + 727255;1580863;6480464 8473324 9153239;17353931;7499293;18842582;18253837;17804093;17724462;16826568;16710414;16216881;15659832;15501817;15489334;15231748;14699119;12788942;12788939;12477932;12105215;11909864;11739654;11104670;11034904;10827081;10564811;10432294;10103062;9407077;7524097;16048649;16131488;10637318;16169070;16344560;17207965;18029348;17332742;21832049;22939629;23080069;20671031;20516061;20360068;21139048;22318606;21098020;21360054;22768081;22815811;22940584 5511 Q12972;Q6ICT4 ABBA01034995;ABBA01034996;ABBA01034997;AF061958;AF061959;AF064751;AF064752;AF064753;AF064754;AF064755;AF064756;AF064757;AF126488;AK292077;AK297771;AK304619;AK307570;AK313814;AL020997;AL109927;AL359959;AMYH01000424;AX775985;BC001597;BC003405;BC013360;BC093017;BI459680;CH471059;CR450309;DA077576;DA167043;DA693246;DQ223931;NM_002713;NM_014110;NM_138558;U14575 AAA64749;AAD22486;AAD24669;AAD24670;AAD31541;AAD31542;AAH01597;AAH13360;AAH93017;ABB04281;ADQ33139;BAF84766;BAG36550;BAG60117;BAG65401;CAE11692;CAG29305;EAX07731;EAX07732;EAX07733;EAX07734;EAX07735;EAX07736;NP_002704;NP_054829;NP_612568;Q12972 Hs.533474 2110875;2119454;2133842;2149631 A002Y18;D1S2380;D1S314E;D1S3446 ARD-1;ARD1;NIPP-1;NIPP1;PRO2047 OTTHUMP00000003847;OTTHUMP00000003848;OTTHUMP00000003849;OTTHUMP00000039070;RNase E;activator of RNA decay;nuclear inhibitor of protein phosphatase 1;nuclear inhibitor of protein phosphatase-1;nuclear inhibitor of protein phosphatase-1 alpha;nuclear subunit of PP-1;protein phosphatase 1 regulatory subunit 8;protein phosphatase 1, regulatory (inhibitor) subunit 8 APPROVED protein-coding ENSG00000117751 9296 04028 602636 REVIEWED 6481071 PPP2R2B-IT1 PPP2R2B intronic transcript 1 (non-protein coding) 5 146293770 146299069 - 100874361 ABBA01026331;AC011386;AMYH01015692;BX113093;NR_047115 Hs.193825 miscrna 42984 PREDICTED 736927 PPP2CB protein phosphatase 2, catalytic subunit, beta isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010] 8 8 p12 30762668 30789894 - 30643126 30670352 - 6480464;6484113;6907045 17353931;8206937;2849765;18483222;18460741;17210576;15489334;15147202;14702039;14676191;14633983;12477932;12435421;12370081;11588171;11531413;11259605;11113010;11007961;10781942;10600115;10318862;9920888;9400615;9276686;9013886;8749392;8383590;2837763;2555176;2153055;1846293;1330687;11591705;9009195;12912990;11371618;16085932;16541024;16541025;18782753;21317290;20562864;22863883;23022380;20133760;20811636;19156129;18781797;20360068;21081666;21139048;21890473;21900206;21906983;21963094;23383273;17266553;18971272;21072166;21351466;22190034;22422068;22505724 5516 E5RFI3;E5RHC1;E5RJX4;H0YBN9;H0YC23;P62714 ABBA01023656;AC009314;AF444006;AK091875;AMYH01018620;BC012022;BG716837;BT019526;CA419001;CF594136;CH471080;CR541747;J03805;M60484;NM_001009552;X12656 AAA36467;AAB38020;AAH12022;AAL35904;AAV38333;BAG52434;CAA31183;CAG46547;EAW63433;EAW63434;EAW63435;EAW63436;NP_001009552;P62714 Hs.491440 1644751;1660226;2112024;2112062;2112300;2130809;2144131;2144133;2155039;2217822 A005K33;D8S1928;D8S2038;D8S2146;D8S2190;D8S2268;G20287;PPP2CB_3846;RH46279;STS-N68423 PP2Abeta;PP2CB OTTHUMP00000225455;PP2A-beta;protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform;protein phosphatase 2, catalytic subunit, beta isoform;protein phosphatase 2A catalytic subunit, beta isoform;protein phosphatase 2a, catalytic subunit, beta isoform;protein phosphatase type 2A catalytic subunit;serine/threonine protein phosphatase 2A, catalytic subunit, beta isoform;serine/threonine-protein phosphatase 2A catalytic subunit beta isoform APPROVED protein-coding ENSG00000104695 9300 01487 176916 REVIEWED 735585 PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008] 5 5 q31.1 133560047 133589849 - 133532148 133561950 - 2301729;6480464;6484113;6907045;7241020 18336616;18454172 21454489;11956189;11929880;11929874;11842093;11591705;11531413;11440634;11438723;11371618;11278485;11114196;11113010;10769027;10698523;10681496;10675325;10644691;10441131;10191253;9989501;9920888;9852076;9795170;9647778;9400615;9353299;9013886;9009195;9003791;8703017;8617805;8524402;8392375;8386634;8383590;8206937;7592815;4092695;2837763;2557326;2555176;1848668;1848320;1846293;1330687;1328247;12859198;12514180;17974561;10357815;18782753;16085932;10629059;12058047;10934208;12062430;12912990;11313937;9847399;11007961;2849764;11360189;19356149;19155497;19126401;18977201;18949047;18852266;18586681;18583989;18477699;18430997;18299321;17941990;17852432;17803990;17693927;16541025;16341674;16258073;16189514;16169070;15761153;15671020;15489334;15252037;15247211;15147202;14724252;14702039;14633983;12842894;12637511;12624094;12556559;12477932;12435421;12370081;12186863;12054646;12036952;11959144;16191191;22314363;20363734;20663872;20711181;20677014;20558158;21172653;15761952;20615878;10200280;16109716;16580887;16764867;17055435;17148452;17163575;17174897;17245430;17485487;17540176;18715871;18768864;19060904;19360341;19553685;20100830;20106966;20133759;8262976;8617797;21072166;12915404;18339811;21346232;21355954;20562864;22863883;22990118;23022380;23064762;23135275;21996587;21151953;18928587;20092282;20065038;20133760;20811636;23183242;16306228;19156129;21590681;22939629;15380617;18191226;22031698;22065577;21393425;21708940;19131971;19818709;20360068;21081666;21835928;21791414;22135143;22167190;17297438;20639865;21139048;21890473;21906983;21963094;21987572;23185379;23434594;21959857;22192750;17255109;20544796;22479341;21983900;22379092;22466704;22685328;11983168;16126728;18160256;20448038;21145461;22613722;22732552;16456541;17110338;19738201;21988832;22299668;22443683;22623428;23000965;12036313;16041367;17855368;22961627;11259605;16596250;23290789;23402259;23455922;14645548;17266553;18971272;21351466;22053931;22422068;22505724;17632056;22904676;23184937 5515 B3KUN1;E5RHP4;E7ESG8;P67775 AB451240;AB451365;ABBA01068763;ABBA01068764;ABBA01068765;AC104109;AK057424;AK097599;AMYH01015622;AMYH01015623;AV705728;BC000400;BC002657;BC019275;BC031696;BM786995;CH471062;CR457417;J03804;M60483;NM_002715;X12646 AAA36466;AAB38019;AAH00400;AAH02657;AAH19275;AAH31696;BAG51913;BAG53493;BAG70054;BAG70179;CAA31176;CAG33698;EAW62268;EAW62269;NP_002706;P67775 Hs.105818 1656545;1793516;1797170;1857445;2006814;2112220;2169375;2217820;7184476 D5S2601;D5S2786;PMC22838P1;PPP2CA;PPP2CA_3845;REN74323;RH68282;WI-18935 PP2Ac;PP2CA;PP2Calpha;RP-C OTTHUMP00000159382;PP2A-alpha;protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform;protein phosphatase 2A catalytic subunit, alpha isoform;protein phosphatase 2a, catalytic subunit, alpha isoform;replication protein C;serine/threonine protein phosphatase 2A, catalytic subunit, alpha isoform;serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform APPROVED protein-coding 9299 08912 176915 REVIEWED 7174985 PPP2R2DP1 protein phosphatase 2, regulatory subunit B, delta pseudogene 1 3 p 38092769 38093891 + 100327036 ABBA01024838;AC144536;AMYH01013088;NG_016292 pseudo 44544 INFERRED 1312396 PPP2R1B protein phosphatase 2, regulatory subunit A, beta This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 11 11 q23.2 111102842 111142379 - 111597632 111637169 - 1580863;6480464;6907045;7240710 17540176;17449237;17343570;17324501;16276521;15936019;14767517;14576831;12912990;12670497;12477932;11996789;11929880;11591705;11531413;11440634;11313745;11007961;10896920;10597236;10358086;9795170;9765152;9400615;9353299;9013886;2159327;1328247;8703017;18782753;12370081;11313937;20689807;16541024;16541025;18715871;19615732;19951945;20133745;20237496;20379614;22863883;20133760;22939629;16306228;19156129;20360068;21420167;19471022;21139048;21890473;21906983;21963094;21987572;14645548;17266553;17676665;20862322;21072166;21351466;22505724;22422068 5519 E9PHZ6;E9PNM7;E9PPI5;H0YDG7;J3KR29;Q8NHV8 ABBA01039814;ABBA01039815;ABBA01039816;AF083439;AF087438;AF163473;AK292275;AK293388;AK294716;AK296455;AK301705;AMYH01004031;AP000925;AP001781;BC027596;CH471065;DB527885;DC402587;EF445011;M65254;NG_012117;NM_001177562;NM_001177563;NM_002716;NM_181699;NM_181700 AAA59983;AAC63525;AAC69624;AAG39644;AAH27596;ABM85033;ABM92223;ABW03339;ACA06046;ACA06047;BAF84964;BAG57867;BAG59103;BAG63177;BAH11499;EAW67150;EAW67151;NP_001171033;NP_001171034;NP_002707;NP_859050;NP_859051;P30154 Hs.584790 1654826;1656049;1705982;1730757;2110673;2116184;2128040;2137012;2138022;2151475;2155153;2171341;2183746;5037552 A008R11;D11S4338;D11S966E;D8S2279;PPP2R1B_1854;RH69258;SHGC-78624;STS-F04139;STS-H27731;STS-N25323;STS-N33293;WI-11653;WI-14282;WI-15500 MGC26454;PP2A-Abeta;PR65B OTTHUMP00000234117;OTTHUMP00000234118;OTTHUMP00000234119;OTTHUMP00000234121;OTTHUMP00000234122;PP2A, subunit A, PR65-beta isoform;PP2A, subunit A, R1-beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform;protein phosphatase 2 (formerly 2a), regulatory subunit a (pr 65), beta isoform;protein phosphatase 2, structural/regulatory subunit A, beta;serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform APPROVED protein-coding ENSG00000137713 9303 04384 211980;603113 REVIEWED 1345219 PPP2R1A protein phosphatase 2, regulatory subunit A, alpha This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 19 19 q13.41 57385046 57421483 + 52693055 52729678 + 1580863;6480464;6484113;6907045 9847399;11007961;9989501;11360189;17688198;17314097;17210576;16930554;16717086;16344560;15963952;15525651;15489334;15231748;14702039;14676191;14532964;12670497;12477932;11856313;11531413;11504734;10862698;10629059;10224043;9400615;9013886;8694763;8254721;7592815;2554323;2159327;2157202;16169070;17353931;12370081;18172692;21145461;21381030;21157432;20711181;20826764;11076968;12221128;12852856;16462731;16541024;16541025;16580887;17055435;17148452;17174897;17245430;17374643;17540176;17632056;18715871;18782753;19750005;19794960;19890961;19951945;20237496;7790358;8617797;22863883;22939629;23022380;23135275;17079228;19875381;23184937;21435433;20133760;16196087;19156129;18781797;20639865;21139048;21890473;21906983;21963094;15380617;15761952;19818709;20360068;21081666;21889517;21900206;19471022;22404109;17255109;19322201;21628590;17620599;22379092;22466704;22586326;11983168;17110338;19738201;21983832;21987572;21988832;22053931;22623428;23000965;23267135;23438482;14645548;17266553;18971272;20100830;21072166;21351466;21882256;22422068;22505724;22948661 5518 A8K7B7;B3KQV6;C9J9C1;E9PH38;F5H3X9;M0QXG4;M0R0K6;P30153 ABBA01068261;AC010320;AK090488;AK091387;AK130000;AK290593;AK291932;AK293174;AK293493;AK299012;AK303934;AK307743;AK315700;AMYH01009954;AU128747;BC001537;BC026733;CA426613;CH471135;CR450340;DB246691;DC398468;J02902;M31786;NM_014225;NR_033500 AAA35531;AAA36399;AAH01537;AAP36766;ABM83682;ABM86978;BAC03652;BAF83282;BAF84621;BAG38062;BAG52168;BAG56718;BAG56980;BAG61093;BAG64862;CAG29336;EAW72066;NP_055040;P30153 Hs.467192 2217824 PPP2R1A_2703 MGC786;PP2A-Aalpha;PP2AAALPHA;PR65A OTTHUMP00000174392;OTTHUMP00000174393;PP2A subunit A isoform PR65-alpha;PP2A subunit A isoform R1-alpha;medium tumor antigen-associated 61 KDA protein;protein phosphatase 2 (formerly 2A), regulatory subunit A , alpha isoform;serine/threonine protein phosphatase 2A, 65 kDa regulatory subunit A, alpha isoform;serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform APPROVED protein-coding 9302 16184 605983 REVIEWED 732376 PPP2R2C protein phosphatase 2, regulatory subunit B, gamma The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 p16.1 6373206 6525227 - 6322305 6565327 - 1580863;6480464;6907045 10945473;18069897;14998489;14702039;12912990;12477932;12136098;11531413;11007961;10574460;9847074;9514514;9400615;9013886;16048649;15638722;15578586;18782753;16041367;20601260;19734900;20308991;20379614;22664926;19156129;21906983;21822214;21628590;17266553;18971272;21351466;22422068 5522 D6R943;Q9Y2T4 AB209183;ABBA01012718;ABBA01012719;ABBA01012720;ABBA01012721;ABBA01012722;AC093323;AC114815;AC116317;AC122939;AF086924;AF145027;AJ328955;AK093115;AK122849;AK127386;AK296474;AK316003;AMYH01013914;AMYH01013915;AMYH01013916;AMYH01013917;AW955803;BC021735;BC032954;BC045682;BM551976;CH471131;DC327075;NG_029233;NM_001206994;NM_001206995;NM_001206996;NM_181876 AAG39636;AAH32954;AAP97279;BAD92420;BAG52658;BAH12367;BAH14374;EAW82393;EAW82394;EAW82395;NP_001193923;NP_001193924;NP_001193925;NP_870991;Q9Y2T4 Hs.479069 1339743;1657540;1663122;1670525;1685467;1768896;2110939;2119820;2126048;2128935;2131250;2168733;2177278;2178333;2180391;2187110;5014023;5015404;5015619;5016478;5022578;5037552;7186313;7186587 D11S3114;D13S1553;D1S1423;D4S1194;D4S1319;D4S1367;D4S431;D4S471;D4S815E;D8S2279;G01811;G01906;G33939;G33988;G34089;G34309;GDB:434012;L17705;RH94038;SHGC-51120;SHGC-59174;SHGC-8649 B55-GAMMA;IMYPNO;IMYPNO1;MGC33570;PR52;PR55G OTTHUMP00000115505;OTTHUMP00000115506;OTTHUMP00000217568;OTTHUMP00000217634;OTTHUMP00000217635;PP2A subunit B isoform B55-gamma;PP2A subunit B isoform PR55-gamma;PP2A subunit B isoform R2-gamma;PP2A subunit B isoform gamma;PP2A, subunit B, B-gamma isoform;PP2A, subunit B, B55-gamma isoform;PP2A, subunit B, PR55-gamma isoform;PP2A, subunit B, R2-gamma isoform;gamma isoform of regulatory subunit B55, protein phosphatase 2;phosphoprotein phosphatase 2A BR gamma regulatory chain;protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform;protein phosphatase 2, regulatory subunit B, gamma;protein phosphatase 2A1 B gamma subunit;serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, gamma isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform APPROVED protein-coding ENSG00000074211 9306 09345 605997 REVIEWED 1315869 PPP2R3A protein phosphatase 2, regulatory subunit B'', alpha This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010] 3 3 q22.1 137167257 137349423 + 135684515 135866752 + 1580863;6480464;6907045 9847399;8392071;1849734;18397887;17535922;16713569;15687260;12524438;12477932;11748221;11531413;11504734;11007961;10629059;10358086;9927208;9400615;9013886;16048649;15780175;15578586;12506124;16344560;16567647;17055435;18715506;22216198;19825976;17266553;18971272;21072166;21351466 5523 F6URX5;H7C1M1;Q06190 ABBA01059135;ABBA01059136;ABBA01059137;AC072039;AC092991;AK293012;AK298059;AK299544;AK302163;AK314243;AK316258;AL389975;AL599266;AMYH01013518;AMYH01013519;BC015034;BC029409;BC040158;BC065531;BE897340;CH471052;DB223168;DB378665;L07590;L12146;NG_029234;NM_001190447;NM_002718;NM_181897 AAB02613;AAB02614;AAH15034;AAH29409;AAH65531;BAF85701;BAG36910;BAG60353;BAG61490;BAG63530;BAH14629;CAB97532;EAW79122;EAW79123;EAW79124;EAW79125;EAW79126;NP_001177376;NP_002709;NP_871626;Q06190 Hs.518155 1653683;1657215;1684002;1768277;1858399;2086392;2170493;2173935 D3S3343;REN114452;RH17602;RH78965;RH80956;STS-N32916;STS-R74400;WI-14084 PPP2R3;PR130;PR72 OTTHUMP00000216419;OTTHUMP00000216420;OTTHUMP00000216421;PP2A subunit B isoform PR72/PR130;PP2A subunit B isoform R3 isoform;PP2A subunit B isoforms B''-PR72/PR130;PP2A subunit B isoforms B72/B130;PP2A, subunit B, R3 isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha;serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B;serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha APPROVED protein-coding ENSG00000073711 9307 09225 604944 REVIEWED 1352838 PPP2R2B protein phosphatase 2, regulatory subunit B, beta The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. [provided by RefSeq, Jul 2008] 5 5 q32 145949260 146441207 - 145969067 146461033 - 1580863;5686296;5686297;5686291;5686295;5686294;6480464;6484113;6907045;7240710 20669227;20629122;21746932;21029765;21471219 1849734;18973067;18653458;18519826;18484086;17529992;17123511;16596250;16475161;16344560;16286244;16245300;16138911;16126728;16109716;16054804;15489334;15148151;14960773;14702039;12912990;12497613;12477932;12140678;12058047;11983168;11956189;11723136;11531413;11198281;10581021;10322434;9514514;9400615;9013886;8348150;16048649;15780175;15817944;15638722;15578586;16041367;15761153;20533062;19913121;20628086;20338046;21075311;20056007;20937954;17148452;17245428;17245430;17903297;19235102;19259763;19581569;20017961;20237496;20379614;20301381;15342556;19156129;21827912;21906983;15380617;23034890;23135275;17110338;22583914;23453885;12549820;17266553;18971272;21072166;21351466;22422068 5521 D6RB57;D6RF04;D6RGF9;E5RFC4;E5RJ91;E9PCT7;G3V149;H0YA16 ABBA01026328;ABBA01026329;ABBA01026330;ABBA01026331;ABBA01026332;ABBA01026333;ABBA01026334;ABBA01026335;ABBA01026336;AC008728;AC009186;AC010251;AC011357;AC011386;AC091919;AC091924;AF152102;AI621232;AK056192;AK289717;AK294659;AK295347;AK314810;AL540315;AMYH01015686;AMYH01015687;AMYH01015688;AMYH01015689;AMYH01015690;AMYH01015691;AMYH01015692;AV726282;BC031790;BI669304;BP195204;BX464346;BX647887;CH471062;DA155307;DA158596;DA365141;DA522334;DA523686;DA533318;M64930;NG_011570;NM_001127381;NM_001271899;NM_001271900;NM_001271948;NM_004576;NM_181674;NM_181675;NM_181676;NM_181677;NM_181678;NR_073526;NR_073527 AAA36491;AAA36492;AAA36493;AAF74024;AAH31790;ABM82711;ABM85895;BAF82406;BAG51642;BAH11838;BAH12040;EAW61829;EAW61830;EAW61831;EAW61832;EAW61833;EAW61834;EAW61835;NP_001120853;NP_001258828;NP_001258829;NP_001258877;NP_004567;NP_858060;NP_858061;NP_858062;NP_858063;NP_858064;Q00005 Hs.627618;Hs.655213 1338899;1657455;1662464;1676206;1690522;1707770;1725465;1740383;1780950;1780952;1785434;2121323;2131520;2139700;2148231;2158952;2186156;2190479;2217826;5114453;5127422;7185450 A052VD5;D5S1869;D5S2206E;D5S638;Dm0468;G16900;H5SKB.DN-5;L28362;PPP2R2B__3310;RH119128;RH80301;RH80708;SGC30734;SGC38142;SHGC-145349;SHGC-53523;SHGC-82104;STS-AA019131;WI-20015;bac5401S;bac5404S B55-BETA;B55BETA;FLJ95686;MGC24888;PP2A-B55BETA;PP2A-PR55B;PP2AB-BETA;PP2AB55BETA;PP2ABBETA;PP2APR55-BETA;PP2APR55B;PP2APR55BETA;PR2AB-BETA;PR2AB55-BETA;PR2AB55BETA;PR2ABBETA;PR2APR55-BETA;PR2APR55BETA;PR52B;PR55-BETA;PR55BETA;SCA12 OTTHUMP00000160097;OTTHUMP00000160098;OTTHUMP00000160099;OTTHUMP00000223707;OTTHUMP00000223708;OTTHUMP00000232496;OTTHUMP00000232497;PP2A subunit B isoform B55-beta;PP2A subunit B isoform PR55-beta;PP2A subunit B isoform R2-beta;PP2A, subunit B, B-beta isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform;serine/threonine protein phosphatase 2A, 55 kDa regulatory subunit B, beta isoform;serine/threonine protein phosphatase 2A, neuronal isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform APPROVED protein-coding ENSG00000156475 9305 05059 604325;604326 REVIEWED 733714 PPP2R2A protein phosphatase 2, regulatory subunit B, alpha The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] 8 8 p21.2 26204951 26284563 + 26149007 26230196 + 6480464;6484113;6907045 9847399;1849734;18697906;18670647;18339811;17693407;17604273;17255109;17055435;16790090;16580887;16474850;16239230;16239222;15489334;14702039;12477932;11956189;11531413;11259128;11007961;10862698;10681496;9774674;9514514;9400615;9013886;1328247;16048649;15725353;15142377;15638722;15578586;12370081;18782753;15004009;16899564;10200280;17353931;10608806;16041367;15775987;21145461;21047956;20711181;15380617;17148452;17220478;17245430;17540176;19535438;19556239;19890961;21872824;19156129;22863883;22939629;23022380;21813648;20360068;21081666;21139048;21890473;21906983;21110914;22417654;19322201;21628590;17266553;18971272;21072166;21351466;22174317;22422068;22505724;22948661;22952844;23087057 5520 E5RFR9;E5RHQ2;E5RIY1;E5RJV1;E5RJV2;P63151 ABBA01005570;ABBA01005571;AC022911;AI814790;AK095153;AK123721;AK303981;AK314823;AMYH01018591;AMYH01018592;AMYH01018593;AY189686;BC041071;BX440554;CH471080;CR936829;DB451813;M64929;NM_001177591;NM_002717 AAA36490;AAH41071;AAO85219;BAG37345;BAG64899;EAW63577;EAW63578;EAW63579;EAW63580;NP_001171062;NP_002708;P63151 Hs.146339 1659616;1698078;1701502;1796562;2127480;2159042;5491597;5492316 MARC_23873-23874:1028298899:1;PPP2R2A_1255;Ppp2r2a;RH102571;RH104384;SHGC-36329;STS-M64929;WI-18898 B55-ALPHA;B55A;B55ALPHA;DKFZp686N05117;FLJ26613;FLJ41727;MGC52248;PR52A;PR55A OTTHUMP00000225159;OTTHUMP00000225160;protein phosphatase 2 (formerly 2A), regulatory subunit B (PR52), alpha isoform;protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), alpha isoform;serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, alpha isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform APPROVED protein-coding ENSG00000221914 9304 09223 604941 REVIEWED 1351294 PPP2R2D protein phosphatase 2, regulatory subunit B, delta 10 10 10 q26.3 127392198 127414138 + 133597950 133620044 + 133747957 133770054 + 1580863;6480464;6907045 15489334;15164054;14702039;12477932;10819331;16169070;17148452;18697906;18782753;19615732;17207965;19156129;20360068;21081666;21906983;22539979;23135275;22174317 55844 F5GXJ6;H0YB06;Q66LE6;Q6PEG1 ABBA01006171;ABBA01006172;AF220046;AI521071;AK000402;AK001483;AK293065;AL732395;AMYH01003193;AMYH01003194;AMYH01003195;BC047379;BC058076;BC060885;BC072402;CH471066;FP565171;NM_018461;NR_033191 AAF67639;AAH47379;AAH58076;AAH72402;ADQ31990;BAF85754;BAG50921;EAW49145;EAW49146;EAW49147;NP_060931;Q66LE6 Hs.380372;Hs.657480 1645714;1675059;1675129;1687257;1725723;2125092 G62056;RH11280;RH80993;STS-W67510;WI-22094;WI-22366 MDS026 OTTHUMP00000020751;PP2A subunit B isoform B55-delta;PP2A subunit B isoform PR55-delta;PP2A subunit B isoform R2-delta;PP2A subunit B isoform delta;protein phosphatase 2, regulatory subunit B, delta isoform;serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform APPROVED protein-coding 23732 15172 613992 VALIDATED 1350999 PPP2R5CP protein phosphatase 2, regulatory subunit B', gamma pseudogene 3 3 3 p21.3 52386990 52388387 + 52382685 52384099 + 52407668 52409065 + 11863364 140921 ABBA01024509;AC092045;AF411591;AMYH01013183;NG_001307 1846887 RH67921 protein phosphatase 2, regulatory subunit b (b56), gamma isoform pseudogene APPROVED pseudo 17835 INFERRED 1604626 PPP2R3B protein phosphatase 2, regulatory subunit B'', beta Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010] X X;Y X;Y p22.33; Yp11.3 734571 788070 + 214970 267627 - 294668 347690 - 6480464;6907045 12605688;9847399;10629059;12477932;11593413;11173861;10508479;8889548;12370081;18782753;16344560;17207965;21139048 28227 C9JMU6;Q9Y5P8 AB209137;ABBA01055831;ABBA01055832;ABBA01055833;ABBA01055834;ABBA01179965;AF135016;AF155098;AF215839;AF215840;AI248426;AK293506;AL157501;AL732314;AL954664;AMYH01021952;AMYH01021953;AMYH01021954;AMYH01021955;BC009032;BC011180;BC063429;BF530463;BI828434;BK000521;BM666129;BM676246;BM715684;BU845905;BX000476;CB218994;CH471225;DA061573;NG_013257;NM_013239 AAD38515;AAD42864;AAH09032;AAH11180;AAH63429;ADQ31576;BAD92374;BAG56990;CAB75680;DAA00385;EAW66818;EAW66819;NP_037371;Q9Y5P8 Hs.124942 1849501;5021872;5022200;5022651 D11S2921;DXYS129;L18426;sY3084 FLJ60425;NY-REN-8;NYREN8;PPP2R3L;PPP2R3LY;PR48 NY-REN-8 antigen;OTTHUMP00000022818;PP2A, subunit B, PR48 isoform;protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta;serine/threonine protein phosphatase 2A, 48kDa regulatory subunit B;serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta APPROVED protein-coding ENSG00000167393 13417 02276 300339 REVIEWED 1319421 PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma 14 14 14 q13.2 15418500 15455350 - 34624429 34661270 - 35554678 35591519 - 6480464;6907045 15489334;16129705;15820313;20925653;22753944;14702039;12477932;12167160;8125298;17207965;20360068;21139048;21890473;21906983 55012 G3V228;G3V2K1;G3V3T9;G3V3V5;G3V561;G3V5U8;H0YJ16;H0YJC5;H0YJR2;H0YJV0;Q86US5;Q9NWR9 ABBA01061497;ABBA01061498;AK000651;AK225447;AK225512;AK293717;AK310700;AK311337;AL049776;AL121594;AMYH01005666;AY157304;AY157305;AY518535;AY518536;AY518537;BC006823;BC010293;BC012563;BC037797;BC063438;BC100021;BX248043;CH471078;NM_017917 AAH06823;AAH10293;AAH12563;AAH63438;AAO17045;AAO17046;AAT44532;AAT44533;ADQ31745;BAA91308;BAG57148;CAD62352;EAW65886;EAW65887;EAW65888;EAW65889;EAW65890;NP_060387;Q969Q6 Hs.530712;Hs.621667 1847265;2150827;5015879;5020948;5021396;5022322;5024761;5037552;5118576 D11S2560;D11S3430;D8S2279;G35510;GDB:313783;GDB:314949;RH36905;RH69407;SHGC-53937 C14orf10;FLJ20644;G4-1;G5pr OTTHUMP00000178846;chromosome 14 open reading frame 10;protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma;protein phosphatase subunit G5PR;rhabdomyosarcoma antigen MU-RMS-40.6A;rhabdomyosarcoma antigen MU-RMS-40.6A/6C;rhabdomyosarcoma antigen Mu-RMS-40.6C;serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma APPROVED protein-coding ENSG00000092020 17485 12622 PROVISIONAL 1318076 PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 9 9 q34 130913065 130951044 + 131873228 131911225 + 1580863;6480464;6484113 10830164;22403409;16916641;10318862;8195217;19507191;19465001;19405949;19286927;19234487;19129191;19121623;18931662;18586097;18486982;18334487;18292600;18208556;18201571;18045992;18029348;16936753;16885030;16782712;16380387;16344560;16293617;15965230;15489334;15164053;12477932;11956189;11531413;10880964;10585862;9400615;17245428;9139659;9013886;8887688;8530035;8125298;7721943;3017441;16048649;15638722;15578586;18397887;10681496;8702385;15225643;12952889;15203218;20308788;20110348;20558741;20498628;20306465;18782753;20593489;11576548;17333320;19458393;19704001;19890961;19915589;19940183;20673369;12444089;16310392;16751776;21233840;21832049;22907757;21729530;15717329;19818709;21660042;19156129;21784851;21985334;22476099;22613722;22764226;17297438;21139048;21906983;22739989;21419339;21502318;22253878;22299660;22061964;22525275;22266860;22318606;22379092;11685209;17274640;15057556;15324659;16452482;17438131;17505062;12435421;16456541;18337751;21963094;22443683;8749392;19553685;23428800;23443539;14645548;17266553;18971272;21072166;21351466;22422068 5524 A6PVN5;A6PVN6;A6PVN7;A6PVN8;A6PVN9;B4DDQ6;B4DZF8;B7ZBP7;B7ZBP9;B7ZBQ0;C9IZ76;H0Y562;H0Y6E5;Q5T948;Q5T949;Q68CR8;Q9NNZ7 ABBA01043916;ABBA01043917;ABBA01043918;AF134185;AK222788;AK297202;AK302043;AK302897;AK307424;AK310328;AK310543;AL158151;AMYH01021754;AU125192;AU133279;BC002545;BC010497;BC011605;BC020581;BE732116;BG255640;BQ896712;BT020119;CD630703;CH471090;CR749810;DA052599;DA387148;DA737954;DB009663;DC375389;NG_029370;NM_001193397;NM_001271832;NM_021131;NM_178000;NM_178001;NM_178003;X73478;X86428;X86439 AAF24143;AAH02545;AAH11605;AAV38922;ABM83080;ABM85805;ABM86275;BAD96508;BAG59687;BAG63436;BAG64070;CAA51873;CAA60163;CAB77601;CAB77602;CAB77603;CAH18670;EAW87876;EAW87877;EAW87878;EAW87879;EAW87880;EAW87881;EAW87882;EAW87883;EAW87884;EAW87885;NP_001180326;NP_001258761;NP_066954;NP_821067;NP_821068;NP_821070;Q15257 Hs.400740 1712172;1726869;1730139;1796564;1801522;1803340;1804736;1804908;1805144;1805348;1805982;1810156;1811906;1813054;1814096;1815198;1815770;1816342;1817028;1817176;1817516;1817518;1818030;1818622;1819874;1820094;1821418;1822936;1825400;1827004;1827544;1828716;1829088;1832280;1833228;1833982;1836996;1842080;1843178;1845072;1846506;1851723;1930554;1930556;1930558;1930560;1930562;1930564;1930566;1930568;1930570;1930572;1930574;1930576;1930578;1930580;1930582;1930584;1930586;1930588;1930590;1930592;1930594;1930596;1930598;1930600;1930602;1930604;1930606;1930608;1930610;1930612;1930614;1930616;1930618;1930620;1930622;1930624;1930626;1930628;1930630;1930632;1930634;1930636;1930638;1930640;1930642;1930644;1930646;1930648;1930650;1930652;1930654;1930656;1930658;1930660;1930662;1930664;1930666;1930668;1930670;1930672;1930674;1930676;1930678;1930680;1930682;1930684;1930686;1930688;1930690;1930692;1930694;1930696;1930698;1930700;1930702;1930704;1930706;1930708;1930710;1930712;1930714;1930716;1930718;1930720;1930722;1930724;1930726;1930728;1930730;1930732;1930734;1930736;1930738;1930740;1930742;1930744;1930746;1930748;1930750;1930752;1930754;1930756;1930758;1930760;1930762;1930764;1930766;1930768;1930770;1930772;1930774;1930776;1930778;1930780;1930782;1930784;1930786;1930788;1930790;1930792;1930794;1930796;1930798;1930800;1930802;1930804;1930806;1930808;1930810;1930812;1930814;1930816;1930818;2142490;2177570;2208292;2208294;2208296;2208298;2208300;2208302;2208304;2208306;2208308;2208310;2208312;2208314;2208316;2208318;2208320;2208322;2208324;2208326;2208328;2208330;2208332;2208334;2208336;2208338;2208340;2208342 D9S1014E;D9S184E;ECD01639;ECD02566;ECD03300;ECD03389;ECD03515;ECD03621;ECD03944;ECD06070;ECD06957;ECD07546;ECD08077;ECD08634;ECD08923;ECD09213;ECD09563;ECD09638;ECD09808;ECD09809;ECD10071;ECD10375;ECD11007;ECD11120;ECD11793;ECD12556;ECD13807;ECD14617;ECD14888;ECD15485;ECD15671;ECD17278;ECD17756;ECD18138;ECD19662;ECD22243;ECD22797;ECD23753;ECD24474;G54136;G62677;PPP2R4_1069;REN36106;REN36107;REN36108;REN36109;REN36110;REN36111;REN36112;REN36113;REN36114;REN36115;REN36116;REN36117;REN36118;REN36119;REN36120;REN36121;REN36122;REN36123;REN36124;REN36125;REN36126;REN36127;REN36128;REN36129;REN36130;REN36131;REN36132;REN36133;REN36134;REN36135;REN36136;REN36137;REN36138;REN36139;REN36140;REN36141;REN36142;REN36143;REN36144;REN36145;REN36146;REN36147;REN36148;REN36149;REN36150;REN36151;REN36152;REN36153;REN36154;REN36155;REN36156;REN36157;REN36158;REN36159;REN36160;REN36161;REN36162;REN36163;REN36164;REN36165;REN36166;REN36167;REN36168;REN36169;REN36170;REN36171;REN36172;REN36173;REN36174;REN36175;REN36176;REN36177;REN36178;REN36179;REN36180;REN36181;REN36182;REN36183;REN36184;REN36185;REN36186;REN36187;REN36188;REN36189;REN36190;REN36191;REN36192;REN36193;REN36194;REN36195;REN36196;REN36197;REN36198;REN36199;REN36200;REN36201;REN36202;REN36203;REN36204;REN36205;REN36206;REN36207;REN36208;REN36209;REN36210;REN36211;REN36212;REN36213;REN36214;REN36215;REN36216;REN36217;REN36218;REN36219;REN36220;REN36221;REN36222;REN36223;REN36224;REN36225;REN36226;REN36227;REN36228;REN36229;REN36230;REN36231;REN36232;REN36233;REN36234;REN36235;REN36236;REN36237;REN36238;RH12702;STS-X86438;stSG628204;stSG628205;stSG628206;stSG628207;stSG628208;stSG628209;stSG628210;stSG628211;stSG628212;stSG628214;stSG628215;stSG628216;stSG628217;stSG628218;stSG628219;stSG628221;stSG628222;stSG628223;stSG628224;stSG628225;stSG628227;stSG628229;stSG628230;stSG628232;stSG628233;stSG628234 MGC2184;PP2A;PR53;PTPA OTTHUMP00000022333;OTTHUMP00000022334;OTTHUMP00000022335;OTTHUMP00000043295;OTTHUMP00000194822;OTTHUMP00000196049;OTTHUMP00000196051;PP2A phosphatase activator;PP2A subunit B' isoform PR53;PP2A, subunit B', PR53 isoform;phosphotyrosyl phosphatase activator;protein phosphatase 2A, regulatory subunit B' (PR 53);serine/threonine-protein phosphatase 2A activator;serine/threonine-protein phosphatase 2A regulatory subunit 4;serine/threonine-protein phosphatase 2A regulatory subunit B' APPROVED protein-coding ENSG00000119383 9308 02858 600756 REVIEWED 1319620 PPP2R5C protein phosphatase 2, regulatory subunit B', gamma The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 q32.31 101345925 101463831 + 102228135 102394329 + 1580863;6480464;6907045 8617797;15380617;17540176;8703017;16717086;17967874;17663574;17245430;16524888;22315229;16344560;15778281;15632055;12477932;12297508;11959144;11929880;11863364;11531413;10698523;10675325;10508479;9400615;9013886;8812429;8694763;7607250;7592815;7584044;7584026;16048649;18782753;11956189;20473327;20663923;20448040;16456541;16541024;16541025;16580887;20379614;17174897;21832049;22863883;22990118;19156129;21548944;21460856;20360068;21139048;21906983;22348058;17266553;18971272;21072166;21351466;22797925 5527 G3V292;G3V2U3;G3V5T2;H0YJ12;H0YJ35;H0YJ49;H0YJ75;H0YJU0;H0YJZ3;H0YK25;H0YK26;H0YN58;H0YN84;H0YNJ3;H0YNR8;Q13362;Q96B13 AA487513;AA716736;AB451341;ABBA01048503;ABBA01048504;ABBA01048505;ABBA01048506;AI282996;AI692258;AK131391;AK302470;AK315072;AL118558;AL137779;AL834350;AMYH01006025;AMYH01006026;AMYH01006027;AY052369;BC016183;BC051442;BI560029;BQ006619;BX248254;CH471061;D26445;DA853338;L42375;NM_001161725;NM_001161726;NM_002719;NM_178586;NM_178587;U37352;Z69030 AAC37603;AAC50387;AAH16183;AAL14777;AAL14778;AAL14779;BAA05465;BAD18542;BAG63760;BAG70155;CAA93154;CAD62582;EAW81752;EAW81753;EAW81754;EAW81755;EAW81756;EAW81757;NP_001155197;NP_001155198;NP_002710;NP_848701;NP_848702;Q13362 Hs.368264 1339997;1672121;1675299;1676013;1677192;1722089;1759225;1773123;1796566;1846887;1855846;2130454;2132337;2162483;2163399;2164221;2164223;2175125;5037552 A002C01;D14S1051;D14S1184;D8S2279;G19911;G35593;G35643;G60086;PPP2R5C_460.2;RH25280;RH44791;RH67921;RH68390;RH91926;SHGC-150905;WI-11415;WI-13578;WI-16879;WI-18224 B56G;MGC23064;PR61G B' alpha regulatory subunit;OTTHUMP00000246562;OTTHUMP00000246563;OTTHUMP00000246564;OTTHUMP00000246565;OTTHUMP00000246642;OTTHUMP00000246643;PP2A B subunit isoform B'-gamma;PP2A B subunit isoform B56-gamma;PP2A B subunit isoform PR61-gamma;PP2A B subunit isoform R5-gamma;protein phosphatase 2, regulatory subunit B', gamma isoform;renal carcinoma antigen NY-REN-29;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform APPROVED protein-coding ENSG00000078304 9311 03385 601645 REVIEWED 1317550 PPP2R5A protein phosphatase 2, regulatory subunit B', alpha The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 q32.2-q32.3 210525502 210601828 + 212458879 212535205 + 1580863;6480464;6484113;6907045 18782775;9847399;8703017;18981217;18957415;16710414;15489334;14690447;12501214;12477932;12435421;12086851;12062430;12058047;11994459;11929874;11884620;11856313;11531413;11397791;10866685;10092233;9400615;9013886;8889548;8812429;8702385;8694763;7592815;16048649;18782753;12370081;11297546;11929880;11585828;20378546;15342556;15380617;15569306;16097049;16541024;16541025;17245430;17540176;19538941;20160490;21075214;21030067;20562864;19131971;20360068;21874008;21878643;21139048;21890473;11983168;17266553;21072166;21351466 5525 Q15172 AA425592;ABBA01048178;ABBA01048179;ABBA01048180;ABBA01048181;ABBA01048182;ABBA01048183;AK302202;AK312530;AL360091;AL451060;AMYH01001706;AMYH01001707;BC022474;BC110883;BM974076;BP326450;CH471100;L42373;NM_001199756;NM_006243 AAC37601;AAH22474;AAI10884;ABM83287;ABM86494;BAG35429;BAH13648;EAW93392;EAW93393;NP_001186685;NP_006234;Q15172 Hs.744012 2116033;2191163;2218588 MARC_15687-15688:1013522980:1;PPP2R5A_1274;SHGC-76301 B56A;MGC131915;PR61A OTTHUMP00000034891;PP2A B subunit isoform B'-alpha;PP2A B subunit isoform B56-alpha;PP2A B subunit isoform PR61-alpha;PP2A B subunit isoform R5-alpha;PP2A, B subunit, B' alpha isoform;PP2A, B subunit, B56 alpha isoform;PP2A, B subunit, PR61 alpha isoform;PP2A, B subunit, R5 alpha isoform;PR61alpha;protein phosphatase 2, regulatory subunit B', alpha isoform;serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, alpha isoform;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform APPROVED protein-coding ENSG00000066027 9309 03384 601643 REVIEWED 1353441 PPP2R5B protein phosphatase 2, regulatory subunit B', beta The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008] 11 11 q12 64448756 64458523 + 64692143 64701950 + 1580863;6480464;6907045 15380617;8703017;16456541;15665512;15489334;14702039;12477932;11531413;10698523;9400615;9272177;9013886;8812429;8694763;8012384;7592815;12775419;16048649;11956189;16541024;16541025;18385213;18782753;8889548;23135275;22379092;17266553;18971272;21072166;21351466 5526 E9PNY3;E9PQN5;Q15173 ABBA01024139;AK092730;AMYH01003715;AP001187;BC045619;BE883575;BM665417;CH471076;L42374;NM_006244;Z58949 AAC37602;AAH45619;ABZ92527;EAW74324;EAW74325;NP_006235;Q15173 Hs.75199 1670249;2127007;2157902;2157904;2177669;2187134;5491477 A002D23;G19958;G33091;G33092;MARC_15219-15220:1012924404:3;RH11559;RH17836 B56B;FLJ35411;PR61B OTTHUMP00000230530;OTTHUMP00000230532;PP2A B subunit isoform B'-beta;PP2A B subunit isoform B56-beta;PP2A B subunit isoform PR61-beta;PP2A B subunit isoform R5-beta;protein phosphatase 2, regulatory subunit B', beta isoform;protein phosphatase 2, regulatory subunit b (b56), beta isoform;serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform APPROVED protein-coding ENSG00000068971 9310 09038 601644 REVIEWED 1313814 PPP2R5E protein phosphatase 2, regulatory subunit B', epsilon isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008] 14 14 q23.1 62911108 63079832 - 63841355 64010079 - 1580863;6480464;6907045 15380617;17540176;8703017;18029348;15489334;15231748;12477932;11531413;9400615;9013886;8812429;8694763;7592815;16048649;18782753;20889715;15034937;16541024;16541025;19773383;19890961;21659360;20562864;21832049;22863883;19156129;17297438;20360068;21139048;21906983;19322201;21699783;22379092;17266553;20862322;21072166;21351466;22190034 5529 B7ZKK9;J3KQN6;Q16537 AB209811;AB451233;AB451358;ABBA01018323;ABBA01018324;ABBA01018325;ABBA01018326;ABBA01018327;ABBA01018328;ABBA01018329;AK299520;AK301796;AK313500;AK316430;AL118555;AL132992;AL136038;AMYH01005793;BC013154;BC034994;BC048305;BC056156;BC064358;BC073873;BC092477;BC093766;BC101479;BC143231;BC143234;BQ439131;CB989123;CH471061;L76703;NM_006246;Z69029 AAB69752;AAH48305;AAH64358;AAH92477;AAH93766;AAI01480;AAI43232;AAI43235;ABZ92529;BAD93048;BAG70047;BAG70172;BAH13057;BAH13556;BAH14801;CAA93153;EAW80826;EAW80827;NP_006237;Q16537 Hs.334868 1851242;2116448;2127206;2128554;2180556;2182315;2218590 G35507;G35697;G35845;G35883;PPP2R5E_2052;SHGC-31030;STS-T67437 OTTHUMP00000179057;OTTHUMP00000245210;PP2A B subunit isoform B'-epsilon;PP2A B subunit isoform B56-epsilon;PP2A B subunit isoform PR61-epsilon;PP2A B subunit isoform R5-epsilon;PP2A, B subunit, B' epsilon;PP2A, B subunit, B56 epsilon;PP2A, B subunit, PR61 epsilon;PP2A, B subunit, R5 epsilon;epsilon isoform of regulatory subunit B56, protein phosphatase 2A;serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, epsilon;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform APPROVED protein-coding 9313 09040 601647 REVIEWED 1315410 PPP2R5D protein phosphatase 2, regulatory subunit B', delta The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 p21.1 43060308 43088058 + 42952237 42980083 + 1580863;6480464;6484113;6907045 16344560;16189514;17110335;17540176;8703017;18056802;16565220;16239230;15809743;15489334;14702039;14636580;12477932;11531413;9400615;9180267;9013886;8812429;8566219;7592815;16048649;22893788;12912990;14690447;20423611;18029348;15380617;16541024;16541025;18715871;18782753;19538941;22939629;22863883;19156129;20360068;21139048;21693764;21890473;21906983;19471022;17266553;18971272;21072166;21351466;22505724;19293187 5528 E9PFR3;H0Y8C4;H7C5Q9;H7C5Z1;Q14738 AB000634;AB000635;AB209861;AB451342;AB451357;ABBA01050698;ABBA01050699;AK122701;AK290604;AK291797;AK299696;AL136304;AMYH01016310;AMYH01016311;BC001095;BC001175;BC010692;CH471081;D78360;DA388594;L76702;NM_001270476;NM_006245;NM_180976;NM_180977 AAB69751;AAH01095;AAH01175;AAH10692;ABZ92528;BAA11372;BAA20381;BAA20382;BAD93098;BAF83293;BAF84486;BAG61599;BAG70156;BAG70171;EAX04130;EAX04131;EAX04132;EAX04133;EAX04134;NP_001257405;NP_006236;NP_851307;NP_851308;Q14738 Hs.533308 1655124;1729049;1796568;1797146;2128947;2130517;2177769;2189529;5123583 D6S1897;MEA;PPP2R5D_1544;RH144000;RH46598;STS-D78360;STS-L76702;UniSTS:143850;WI-18871 B56D;MGC2134;MGC8949 OTTHUMP00000016416;OTTHUMP00000216862;OTTHUMP00000216863;OTTHUMP00000216865;OTTHUMP00000216866;PP2A B subunit isoform B'-delta;PP2A B subunit isoform B56-delta;PP2A B subunit isoform PR61-delta;PP2A B subunit isoform R5-delta;PP2A, B subunit, B' delta isoform;PP2A, B subunit, B56 delta isoform;PP2A, B subunit, PR61 delta isoform;PP2A, B subunit, R5 delta isoform;Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, delta isoform;protein phosphatase 2, regulatory subunit B', delta isoform;serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform APPROVED protein-coding ENSG00000112640 9312 09039 601646 REVIEWED 733965 PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme 10 10 q22.2 74866618 74925758 - 75196563 75255782 - 1580703;1580704;1580705;1580706;1580727;1579951;1579956;6480464;6484113;6907045 16496058;15533858;14615291;16688406;16024800;15336966;9568714 8524402;8392375;8978785;19287956;19154138;19136967;18458866;18034994;16344560;15557343;15514034;12809556;12482669;12477932;11970967;11842093;11714752;11114196;11030334;9660947;9655484;7593193;2558868;2556704;1848109;1659808;1321058;17952113;11005320;19913121;20593291;20628086;19925438;20700529;17148452;19659461;20107831;20379146;6330098;21047202;22739212;21423799;21531385;21664352;22863883;21233773;21903422;21139048;21906983;21963094;19322201;20647544 5532 B7Z6P2;F5H0F8;P16298;Q5F2F8;Q5F2G0 ABBA01020323;ABBA01020324;ABBA01020325;AJ488506;AK300701;AK301582;AL353731;AL359074;AMYH01002828;BC028049;BC035464;BU633160;CH471083;DA192735;M29550;M29551;NM_001142353;NM_001142354;NM_021132;S40012 AAA35705;AAA35706;AAB22473;AAH28049;BAH13328;BAH13517;CAD32694;EAW54496;EAW54497;EAW54498;EAW54499;EAW54500;NP_001135825;NP_001135826;NP_066955;P16298 Hs.500067 1662698;1666328;1666793;1667285;1673037;1676722;1678097;1720295;1744343;2130885;2152908;2181658 D10S2331;D10S2400;G17405;G17468;GDB:451754;RH123896;RH45189;RH75440;RH98703;SHGC-31484;SHGC-37090;WI-19557 CALNA2;CALNB;CNA2;PP2Bbeta CAM-PRP catalytic subunit;OTTHUMP00000019823;OTTHUMP00000019824;calcineurin A beta;calcineurin A2;calmodulin-dependent calcineurin A subunit beta isoform;protein phosphatase 2B, catalytic subunit, beta isoform;protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform;protein phosphatase 3, catalytic subunit, beta isoform;protein phosphatase from PCR fragment H32;serine/threonine-protein phosphatase 2B catalytic subunit beta isoform APPROVED protein-coding ENSG00000107758 9315 00235 114106 VALIDATED 1347828 PPP3CC protein phosphatase 3, catalytic subunit, gamma isozyme Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 8 8 p21.3 22354541 22454583 + 22298483 22398657 + 1580863;1579951;6480464;6907045 15336966 12851458;15231831;10195903;19367581;19154138;18991849;18715757;18460741;18343007;18201382;18198266;17895921;17339875;15843870;15820226;15761153;14702039;12482669;12477932;11714752;1339277;20593291;20205591;17207965;21047202;17148452;20107831;20379146;20398908;20537399;6330098;21832049;22360420;21906983;15757646;21890473;21963094;21988832;23497497 5533 E5RJH4;G3V111;H0YB02;H0YB04;H0YC26;P48454 ABBA01005516;ABBA01005517;ABBA01005518;ABBA01005519;ABBA01005520;ABBA01005521;AC037459;AC087854;AK055013;AK299415;AMYH01018566;AY007249;BC004864;CH471080;DB517138;NM_001243974;NM_001243975;NM_005605;S46622 AAB23769;AAG02563;AAH04864;ADQ32848;BAG61397;EAW63677;EAW63678;EAW63679;NP_001230903;NP_001230904;NP_005596;P48454 Hs.731683 1656694;1674664;1792900;1857657;2108383 D8S2036;PMC166426P1;PPP3CC_8559;RH15891;STS-N89721 CALNA3;CNA3;PP2Bgamma CAM-PRP catalytic subunit;OTTHUMP00000224968;OTTHUMP00000224969;OTTHUMP00000224970;calcineurin, testis-specific catalytic subunit;calmodulin-dependent calcineurin A subunit gamma isoform;protein phosphatase 2B, catalytic subunit, gamma isoform;protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform;protein phosphatase 3 (formerly 2b), catalytic subunit, gamma isoform (calcineurin a gamma);serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform APPROVED protein-coding ENSG00000120910 9316 00236 114107 REVIEWED 730900 PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 4 4 q24 102163610 102487376 - 101944587 102268628 - 1580700;1580701;1580702;734902;1580725;1580726;1300048;1580863;1579951;1302567;1579956;6480464;6483320;6483311;6484113;6907045 16799071;15537502;14762344;12515860;15671033;7593193;15336966;9489698;9568714;19733666;19751097 8392375;19492085;19458075;19285944;19154138;19034380;18815128;18660489;18628988;18296442;17478429;17320203;16381901;16189514;16150694;15955804;15671020;15489336;15489334;15454081;14704270;12809556;12586544;12574411;12510191;12482669;12477932;12218175;12135494;12102656;12063245;12021260;11842093;22688515;20501444;11714752;11513882;11478781;11439183;11316738;11114196;11076863;10861295;10195903;10089876;9765270;9109491;8978785;8524402;8521476;7543369;7528941;2848250;2556704;2162844;1659808;9655484;9880537;20590401;19913121;20514436;20593291;20628086;20700529;19879877;20413672;15757646;17474147;18029348;20107831;20379146;20379614;20422345;6330098;15489953;21047202;21070662;12577067;21647268;22164265;22939629;22270398;22863883;22739212;21674474;11005320;21785830;21900206;21903422;22360420;21233773;20605778;21139048;21890473;21906983;22100452;22506312;21979947;20647544;22691791;22763476;21420386;17102134;21963094;23000965;23118980;23317196;23428871;22715070;22285318 5530 A1A441;A8W6Z8;E7ETC2;E9PK68;E9PPC8;H0YAB4;Q08209 AB451338;AB451487;ABBA01063687;ABBA01063688;ABBA01063689;AC092671;AK290532;AL353950;AMYH01014427;AP001816;AP001870;AP001939;AW973358;AY904364;BC025714;BC098424;CH471057;EU192652;EU192653;J05480;L14778;NM_000944;NM_001130691;NM_001130692 AAA02631;AAA35634;AAH25714;AAY17314;ABW74484;ABW74485;BAF83221;BAG70152;BAG70301;CAB89253;CAL38363;CAL38589;EAX06123;EAX06124;EAX06125;NP_000935;NP_001124163;NP_001124164;Q08209 Hs.435512 1341309;1657678;1674041;1674043;1677362;1687299;1693298;1712541;1721323;1726477;1727209;1747815;1752133;1752587;1755887;1776361;1776603;2125427;2125429;2155141;2161277;2164652;2173065;2178503;2190553;5022024 D4S1591;EST26A4-T;G42352;G59661;G62618;G62859;G66787;J05479;PPP3CA;RH25535;RH66646;RH98934;SHGC-106093;SHGC-106455;SHGC-142728;SHGC-19097;SHGC-50332;SHGC-67255;SHGC-67693;SHGC-67753;SHGC4-996;STS-N27154;WI-16419;WI-18296;WI-18743;WI-20975 CALN;CALNA;CALNA1;CCN1;CNA1;PPP2B CAM-PRP catalytic subunit;OTTHUMP00000165327;OTTHUMP00000165328;OTTHUMP00000219549;OTTHUMP00000219550;OTTHUMP00000219551;calcineurin A alpha;calmodulin-dependent calcineurin A subunit alpha isoform;protein phosphatase 2B, catalytic subunit, alpha isoform;protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform;protein phosphatase 3 (formerly 2b), catalytic subunit, alpha isoform (calcineurin a alpha);serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform APPROVED protein-coding ENSG00000138814 9314 00234 114105 VALIDATED 1346251 PPP3R2 protein phosphatase 3, regulatory subunit B, beta 9 9 q31.1 103393718 103397104 - 104353897 104357283 - 1579951;6480464;6907045 15336966 19156168;17892862;17684544;17531200;17324936;16961774;15865209;15489334;14702039;12482669;12477932;1718268;19913121;20593291;20628086;17230191;20107831 5535 B4DYQ6;Q96LZ3 ABBA01042872;AF085237;AF145026;AF400667;AK057524;AL591377;AMYH01021580;BC030595;BC066299;CH471105;HC007224;HC044525;NM_147180 AAH30595;AAH66299;AAL40395;AAP57772;AAP97278;ADZ15934;BAB71521;CBH19417;CBH30592;EAW58961;NP_671709;Q96LZ3 Hs.151167 1683429 RH91980 PPP3RL CBLP;CBLP-like;CNBII;OTTHUMP00000021813;PPP3R1-like;calcineurin B, type II (19kDa);calcineurin B-like protein;calcineurin BII;calcineurin subunit B type 2;protein phosphatase 2B regulatory subunit 2;protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, type II);protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform;protein phosphatase 3 regulatory subunit B beta isoform;protein phosphatase 3, regulatory subunit B (calcineurin B)-like APPROVED protein-coding ENSG00000188386 9318 10164 613821 PROVISIONAL 1350432 PPP3R1 protein phosphatase 3, regulatory subunit B, alpha 2 2 p15 68259493 68333155 - 68405989 68479651 - 1580706;1580707;1580708;1580709;1580728;1580729;1579951;6480464;6484113;6907045 16688406;16214533;16209992;15012912;15657416;15866158;15336966 2558868;8524402;15231831;10195903;19156168;18825932;18818667;18422742;18343007;18296442;18034994;17761791;17237284;17038582;16648474;16473827;15815621;15489334;12482669;12477932;12357034;12218175;11982754;11439183;11108966;10959817;10520753;10493818;8978785;7541044;15589160;21256111;19913121;20593291;20628086;19285944;19453261;19653005;20107831;20237496;6330098;20862329;21047202;21722668;22939629;21674474;21910968;21906983;22197822;19322201;20647544;22814600;22505724;22632162;22715070 5534 D3YTA9;F6U1T9;H7BYZ3;P63098 ABBA01075480;AC017083;AK307136;AK314893;AMYH01010414;AMYH01010415;AMYH01010416;BC027913;BM468705;BQ228635;CH471053;CR456938;NM_000945 AAH27913;AAY14715;BAG37407;CAG33219;EAW99878;NP_000936;P63098 Hs.280604 1662070;1694900;1722253;2108385;2117438;2158188;2170024 D2S2724;G44336;G60033;PPP3R1_8560;RH120881;RH12230;SHGC-30955 CALNB1;CNB;CNB1 OTTHUMP00000201952;OTTHUMP00000201960;OTTHUMP00000201961;calcineurin B, type I (19kDa);calcineurin subunit B type 1;protein phosphatase 2B regulatory subunit 1;protein phosphatase 2B regulatory subunit B alpha;protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I);protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform APPROVED protein-coding ENSG00000221823 9317 03195 601302 VALIDATED 1352781 PPP4C protein phosphatase 4, catalytic subunit 16 16 p11.2 29994886 30004196 + 30087385 30096695 + 6480464 9837938;18715871;19242545;18758438;18614045;18487071;18424272;18347064;17353931;15805470;15489334;15364934;15331607;15073167;12668731;12477932;10769191;10026142;9647778;9359419;9177794;8384557;1336397;18634786;16085932;21145461;16159877;19539371;20154705;22863883;21423269;23084358;19156129;20876121;21139048;21900206;21906983;21987572;22491012;19322201;20544796;18029348;22053931;22732494;22665577 5531 H3BPN5;H3BTA2;H3BV22;H3BVE3;I3L4X0;P60510 ABBA01013105;AC093512;AF097996;AMYH01007497;BC001416;BT019746;CH471238;NM_002720;X70218 AAC96318;AAH01416;AAV38551;ABM82873;ABM86060;CAA49753;EAW79928;EAW79929;EAW79930;EAW79931;NP_002711;P60510 Hs.534338 1667477;1687375;1740655;2109691 D16S3225;D20S1002;PPP4C_8558;RH70885 PP4;PP4C;PPH3;PPP4;PPX OTTHUMP00000162993;PP-X;protein phosphatase 4 (formerly X), catalytic subunit;protein phosphatase X, catalytic subunit;serine/threonine-protein phosphatase 4 catalytic subunit APPROVED protein-coding ENSG00000149923 9319 03615 602035 PROVISIONAL 1354233 PPP4R1L protein phosphatase 4, regulatory subunit 1-like 20 20 20 q13.32 53548275 53624960 - 56241239 56317901 - 56807833 56884495 - 1580863;6480464 14702039;12477932;11780052;11483580;21890473;21906983 55370 F6VAU2;H0Y408;H0Y5Z4;Q4VXE9;Q96LY6;Q9P1A2 ABBA01005981;AK057583;AK299330;AL035455;AL354776;AL354834;AL833409;AMYH01012016;AMYH01012017;BC100979;BC100980;CH471077;CR994964;CX783537;NR_003505 BAB71529;BAG61336;EAW75498;EAW75499;EAW75500;EAW75501;Q9P1A2 Hs.473179 1781144 stdJ646G2SP6 C20orf192;PRO1085 pseudo ENSG00000124224 15755 17895 VALIDATED 2293110 PPP6CP protein phosphatase 6, catalytic subunit pseudogene X X X q22.3 109360979 109361473 - 108881341 108881835 - 108881341 108881835 - 16276083 100144631 ABBA01043481;AL118496;AMYH01022839;NG_007543 pseudo 34077 INFERRED 6783693 PPP5D1 PPP5 tetratricopeptide repeat domain containing 1 19 46984045 47104457 - 14702039;16344560;8889548 100506012 E7EU14;M0R196 ABBA01040978;ABBA01040979;ABBA01040980;AC011484;AC011551;AC093503;AK094504;AMYH01009863;AMYH01009864;AMYH01009865;AMYH01009866;AMYH01009867;AW295427;BM718195;BU741810;DA130492;NM_001205281 BAG52877;E7EU14;NP_001192210 Hs.671661 1335826;1339420;1707512;1767543;1856416;2120044;5017170;5109281;7186912 D19S412;D1S1425;D7S1525;L29953;SGC31894;SHGC-84557;STS-AA022541;WI-18552 PPP5 TPR repeat domain-containing protein 1;protein PPP5D1;serine/threonine-protein phosphatase 5-like protein-coding 44209 VALIDATED 1316433 PPP4R2 protein phosphatase 4, regulatory subunit 2 3 3 3 p13 72980269 73049174 + 73128809 73197701 + 73046119 73115011 + 1580863;6480464 22559936;17353931;10769191;12668731;12477932;16085932;18614045;18715871;20154705;18029348;16159877;22863883;22939629;19156129;20876121;21987572;21890473;22505724 151987 C9IZ04;C9IZF4;F8WCA1;F8WDK3;H7C559;Q9NY27 ABBA01030958;ABBA01030959;AC098481;AC103559;AF327345;AJ271448;AK289901;AL833216;AMYH01013281;BC100281;BC110889;BC128136;BC128137;CH471055;NM_174907 AAI00282;AAI10890;AAI28137;AAI28138;AAL56006;BAF82590;CAB93534;EAW65530;NP_777567;Q9NY27 Hs.431092 1670062;1774342;1856570;2117136;2135690;2149822;2153790;2164648;2170882;2170884;5092332;5093786;5124466 A006E10;A009W35;D3S4104;G16523;G20739;G32923;G42176;RH47287;RH65706;RH66193;SHGC-77110;STS-H77570;WI-18114 MGC131930;PP4R2 OTTHUMP00000213543;OTTHUMP00000213546;serine/threonine-protein phosphatase 4 regulatory subunit 2 protein-coding 18296 11453 613822 PROVISIONAL 1344077 PPP4R4 protein phosphatase 4, regulatory subunit 4 The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The function of this particular gene product has not been determined. Alternative splicing has been observed for this gene and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 14 q32.2 74694419 74799845 + 93710402 93815825 + 94640649 94746072 + 6480464 18715871;15014966;12477932;11491282;10997877;9989501;18029348;19156129 57718 G3V422;G3V431;G3V516;Q6NUP7 AB046842;ABBA01030418;AK303722;AL117259;AL121838;AMYH01005970;BC002650;BC068491;BI546744;CH471061;DB480905;NM_020958;NM_058237 AAH02650;AAH68491;BAB13448;BAG64698;EAW81561;EAW81562;EAW81563;NP_066009;NP_478144;Q6NUP7 Hs.259599 1685624;1730271;2177375;7187071 D14S91E;RH27936;WI-11227 KIAA1622;PP4R4 HEAT-like repeat-containing protein;OTTHUMP00000245853;OTTHUMP00000245854;serine/threonine-protein phosphatase 4 regulatory subunit 4 APPROVED protein-coding ENSG00000119698 23788 13878 REVIEWED 6482761 PPP6R2P1 protein phosphatase 6, regulatory subunit 2 pseudogene 1 21 q11.2 15379456 15387163 + 100631381 ABBA01203157;AMYH01012137;AP001634;NG_029318 pseudo 39605 INFERRED 735851 PPP4R1 protein phosphatase 4, regulatory subunit 1 This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 18 18 18 p11.22 9431022 9498791 - 9536792 9604600 - 9546789 9614605 - 1580863;6480464 17353931;10026142;15489334;14702039;12477932;11729228;9110174;8619474;15805470;16085932;18715871;20379614;22863883;23084358;18347064;19156129;17043677;21139048;21890473;21906983;22505724 9989 F8WAJ9;J3KRU1;J3KSB0;J3KSH2;J3KSS1;J3QL26;J3QLA6;J3QQV0;J3QRV2;Q8TF05 ABBA01049949;ABBA01049950;ABBA01049951;AF100744;AF111106;AF200478;AI621152;AK025509;AK027064;AK292538;AK293869;AK295533;AK315106;AMYH01008804;AP000902;AP001381;AP005432;AY486333;BC060829;CH471113;DR006046;NM_001042388;NM_005134;NR_052003;U79267 AAB50211;AAD09818;AAD43008;AAH60829;AAL78298;AAS59409;BAF85227;BAG37566;BAG57259;BAG58445;EAX01598;EAX01599;EAX01600;NP_001035847;NP_005125;Q8TF05 Hs.743236 1674300;2118422;2123557 D18S926E;RH11744;WI-13171 MEG1;PP4(Rmeg);PP4R1 OTTHUMP00000174684;OTTHUMP00000174685;serine/threonine phosphatase 4;serine/threonine-protein phosphatase 4 regulatory subunit 1 APPROVED protein-coding ENSG00000154845 9320 604908 REVIEWED 1347490 PPP6R2 protein phosphatase 6, regulatory subunit 2 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] 22 22 22 q13.33 34685889 34759532 + 49128626 49230380 + 50781746 50883519 + 1580863;6480464 21832049;16769727;18186651;16713569;14743216;14702039;12477932;10591208;9734811;18029348;19596235;19615732;19621075;20065038;21187329 9701 B3KMJ7;F2Z3M7;O75170 AA743798;AB014585;ABBA01042631;ABBA01042632;ABBA01042633;ABBA01042634;ABBA01042635;AK002063;AK022669;AK024148;AK097210;AK302472;AL096767;AL671545;AL954743;AMYH01012905;AMYH01012906;AMYH01012907;AMYH01012908;AMYH01012909;AMYH01012910;BC000976;BC006568;BC022346;BC032664;BC041698;BC052995;BX545851;CH471138;DB452735;NM_001242898;NM_001242899;NM_001242900;NM_014678 AAH00976;AAH06568;AAH32664;AAH41698;AAH52995;BAA31660;BAG51009;BAG51102;BAH13719;EAW73530;EAW73531;EAW73532;EAW73533;EAW73534;NP_001229827;NP_001229828;NP_001229829;NP_055493;O75170 Hs.449098;Hs.733531;Hs.740776 1652072;1735242;1784508;2110891;2123801;5015619;5016700;5020740;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D22S316E;D3S2908E;D8S2279;L17809;L18426;RH79802;SGC30261;SHGC-145934;STS-N38970 KIAA0685;PP6R2;SAP190;SAPS2;dJ579N16.1 OTTHUMP00000196589;OTTHUMP00000196590;OTTHUMP00000196591;OTTHUMP00000196592;OTTHUMP00000196594;SAPS domain family, member 2;serine/threonine-protein phosphatase 6 regulatory subunit 2 APPROVED protein-coding ENSG00000100239 19253 11102 610877 VALIDATED 1322857 PPP6R1 protein phosphatase 6, regulatory subunit 1 Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] 19 19 19 q13.42 52782683 52799998 - 60432959 60461850 - 55741147 55770038 - 6480464 16769727;18186651;16716191;15489334;14743216;12477932;10470851;19615732;19621075;22990118;23022380;20065038;22939629;22298787;16196087;18029348;21187329;21900206;21906983;22505724 22870 K7EM28;Q9UPN7 AB029038;ABBA01068115;AC010327;AC116342;AK126810;AK297152;AL544921;AMYH01009987;AMYH01009988;BC002799;BC007629;BC068014;BC094753;BC111980;BC113443;BG772019;BX362839;CH471135;NM_014931 AAH02799;AAH07629;AAH68014;AAH94753;BAA83067;BAG59651;EAW72352;EAW72353;EAW72354;NP_055746;Q9UPN7 Hs.515610 1341926;2155364 D19S605;RH48409 KIAA1115;MGC138185;MGC142003;PP6R1;SAP190;SAPS1 SAPS domain family, member 1;serine/threonine-protein phosphatase 6 regulatory subunit 1 APPROVED protein-coding ENSG00000105063 29195 17207 610875 VALIDATED 7243718 PPT2-EGFL8 PPT2-EGFL8 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring PPT2 (palmitoyl-protein thioesterase 2) and EGFL8 (EGF-like-domain, multiple 8) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 6 p 32121776 32136062 + 23362303;20967262;22359512;9341199 100532746 AB209572;ABBA01038106;ABBA01038107;ABBA01038108;AF020544;AK290473;AK296648;AK307427;AL662828;AL662884;AL845464;AMYH01016234;BX284686;BX927239;CR753803;CR812478;CR933878;NR_037861 AAB80731;BAD92809;BAF83162;BAH12410 Hs.731888 1675331;2124218;2136027 D6S1154E;D6S1412;RH91426 miscrna ENSG00000258388 48343 VALIDATED 68614 PPP5C protein phosphatase 5, catalytic subunit This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 19 19 q13.3 51542134 51585945 + 46850251 46894232 + 1580863;6480464;6907045 14764652;7925273;12761501;19176521;18280813;17084641;16892053;16790549;16537434;16531226;16260606;15577939;15489334;15328343;15218033;15155720;15057824;14734805;14702039;12522145;12519780;12477932;12435421;12176367;11689443;11504734;10400612;9482716;9405394;9383998;9195923;8666404;8561788;8125298;1330687;16169070;15735747;15664193;20029029;18029348;16083881;18547097;19586900;19615732;19948726;15383005;16344560;21144835;19875381;23184943;21832049;22863883;22939629;17043677;21900206;21921034;22379092;18781797;21139048;21906983;21987572;22399290;20875921;16954377;20661446;21360678;21706016;21963094;23352616;22592921;23128233;23102700 5536 A8MU39;H0YDU8;P53041 AB209615;ABBA01040969;ABBA01040970;AC007193;AK094241;AK223222;AK293402;AK293475;AK297095;AK312683;AMYH01009860;AMYH01009861;BC000750;BC001831;BC001970;BT007275;CH471126;DA545760;NG_028163;NM_001204284;NM_006247;U25174;X89416;X92121 AAB60384;AAD22669;AAH00750;AAH01831;AAH01970;AAP35939;BAD92852;BAD96942;BAG35563;BAG56909;BAG59608;BAH11517;CAA61595;CAA63089;EAW57415;EAW57416;EAW57417;NP_001191213;NP_006238;P53041 Hs.654604 1788616;2191517 AW558946;MARC_24308-24309:1030110035:1 FLJ36922;FLJ55954;PP5;PPP5;PPT OTTHUMP00000165833;OTTHUMP00000165834;OTTHUMP00000233212;PP-T;PPT;Serine/Threonine phosphatase;protein phosphatase T;serine/threonine-protein phosphatase 5 APPROVED protein-coding ENSG00000011485 9322 02805 600658 REVIEWED 1320168 PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1 The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPARGC1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. [provided by RefSeq, Jul 2008] 10 10 q24.32 103882777 103900080 + 103892787 103910090 + 6480464 19209188;19036724;18660489;18343819;17937892;17390079;17341490;16511594;15684387;14722127;14702039;14550271;12477932;11943463;11340167;9628581;8889548;12611894;16385451;19956726;18029348;21906983 23082 E7EVG6;Q5VV67 AB011167;ABBA01063171;AF325193;AK025691;AK095248;AK299885;AL500527;AMYH01003016;AMYH01003017;BC002561;BC063806;BC063829;CA442653;CH471066;NM_015062 AAH02561;AAH63806;AAH63829;AAK11573;BAA25521;BAG61732;EAW49719;EAW49720;EAW49721;NP_055877;Q5VV67 Hs.533551 1848720;2108387;2113094;2119846 D10S2456;PPRC1_9302;RH17772;SHGC-33914 KIAA0595;MGC74642;PRC;RP11-302K17.6 OTTHUMP00000020358;OTTHUMP00000020359;PGC-1 related co-activator;PGC-1-related coactivator;peroxisome proliferative activated receptor, gamma, coactivator-related 1;peroxisome proliferator-activated receptor gamma coactivator-related protein 1 APPROVED protein-coding ENSG00000148840 30025 15173 REVIEWED 734407 PPP6C protein phosphatase 6, catalytic subunit This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008] 9 9 q33.3 126951228 126991886 - 127908852 127952218 - 1580863;6480464 18186651;16716191;9013334;19198648;17568194;16769727;16344560;16276083;15489334;12477932;9647778;9143513;8889548;16085932;14743216;15761153;19621075;19626039;20065038;21187329;21481188;22863883;22939629;22990118;17314511;19955178;21139048;21415862;21890473;21906983;21987572;22715043;21451261;19322201;17079228;23383273;17384681;22174317;22505724 5537 B7Z3E2;O00743;Q5T1S7 AA251321;ABBA01043775;ABBA01043776;AF035158;AK295190;AK295752;AK299087;AK312332;AK316527;AL445930;AMYH01021710;BC006990;BT019708;CB250498;CH471090;DB037210;DC307002;DC334216;DC369815;NM_001123355;NM_001123369;NM_002721;X92972 AAD45400;AAH06990;AAV38514;BAG35253;BAH12005;BAH12178;BAH12945;BAH14898;CAA63549;EAW87611;EAW87612;EAW87613;NP_001116827;NP_001116841;NP_002712;O00743 Hs.744091 1652086;1697208;1735862;1772268 D9S991E;RH102096;STS-N25718;WI-13793 FLJ92648;MGC12249;PP6;PP6C OTTHUMP00000022122;PP6C;serine/threonine protein phosphatase catalytic subunit;serine/threonine-protein phosphatase 6 catalytic subunit APPROVED protein-coding ENSG00000119414 9323 02141 612725 REVIEWED 1345271 PPY2 pancreatic polypeptide 2 17 17 17 q11 23436203 23437051 + 23598597 23599442 + 26574470 26575315 + 6480464 11825642;10756099 23614 Q9NRI7 ABBA01015062;AC061975;AF085945;AF222903;AMYH01008277;NR_002181 AAF73875;Q9NRI7 Hs.20588 1677532 RH80047 pseudo ENSG00000265060 9328 09437 606638 PROVISIONAL 736552 PPT1 palmitoyl-protein thioesterase 1 The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008] 1 1 p32 40310969 40335555 - 40538382 40563142 - 734784;1580863;6480464;7240710 7637805 8633062;8325646;7916016;8786130;10658183;10737604;15929065;10992246;16542649;8816748;11722572;11020216;11136716;10740217;12483688;8895569;19302939;19201763;19165527;19054571;18704195;17261688;16571600;16518810;16344560;16303743;15489334;12855696;12754519;12477932;12125808;12025857;11588997;11506414;11440996;10416973;9664077;9571187;9425237;19793631;17207965;22939629;17314511;21963094;21988832;21139048;21704547;21890473;21906983;20301601;22520356;22268729 5538 E9PIA8;E9PK48;E9PMG2;E9PNU2;E9PP28;E9PSE5;P50897;Q5T0S4 ABBA01023189;ABBA01023190;AF022211;AK075496;AK301682;AK302232;AK310799;AK312287;AL512599;AMYH01000531;BC008426;BX441569;CH471059;CR542053;DA504318;HH961862;L42809;NG_009192;NM_000310;NM_001142604;U44772 AAA85337;AAB06236;AAB72224;AAH08426;ADQ31900;BAG35214;BAG63155;BAG63586;CAG46850;CBX51404;EAX07237;EAX07238;NP_000301;NP_001136076;P50897 Hs.3873 2129011;2129988;2151518;2164740;2176157 A006O26;AL010071;D1S1857E;SHGC-74659;WI-12268 CLN1;INCL;PPT OTTHUMP00000004836;OTTHUMP00000004837;OTTHUMP00000004838;OTTHUMP00000230752;OTTHUMP00000231000;PPT-1;ceroid-palmitoyl-palmitoyl-protein thioesterase 1;palmitoyl-protein hydrolase 1;palmitoyl-protein thioesterase;palmitoyl-protein thioesterase 1 APPROVED protein-coding ENSG00000131238 9325 07203 256730;600722 REVIEWED 1349834 PQBP2 polyglutamine binding protein 2 9875212 23687 9331 1353360 PQBP3 polyglutamine binding protein 3 9875212 23686 9332 1352148 PQBP4 polyglutamine binding protein 4 9875212 23685 9333 1343655 PQBP5 polyglutamine binding protein 5 9875212 23684 9334 1316164 PPP6R3 protein phosphatase 6, regulatory subunit 3 Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010] 11 11 11 q13 65563446 65717507 + 67984775 68139378 + 68228186 68382802 + 6480464 19505873;16716191;17081983;16964243;16769727;15489334;15345747;15324660;15302935;14702039;12477932;11401438;10997877;15342556;16344560;17761849;18186651;19615732;19621075;15146197;22863883;22990118;23022380;20065038;22939629;21187329;21139048;21890473;21906983;21987572;9885572;19322201;21044950;22586326;22053931;22952844 55291 E9PJD8;E9PK08;E9PKF6;E9PKG4;E9PNN8;E9PQP7;G8JLI3;H0YDK9;H0YDW1;H0YEN2;H0YEV0;H7BXH2;Q9H2K5 AB046778;ABBA01023993;ABBA01023994;ABBA01023995;ABBA01023996;AF264779;AF264780;AK001920;AK023950;AK057250;AK125055;AK298180;AK300359;AK302611;AK303315;AK315136;AL389982;AL834471;AMYH01003763;AMYH01003764;AP000807;AP001788;AP003096;BC007738;BC020953;BC070121;BC105933;BC105934;BC107599;BP314824;CH471076;CN351527;CR749815;CR933658;CR936718;DB207620;DQ111954;NM_001164160;NM_001164161;NM_001164162;NM_001164163;NM_001164164;NM_018312 AAG36934;AAG36935;AAH07738;AAH20953;AAI05934;AAI05935;AAI07600;AAZ99639;BAA91978;BAB13384;BAB14737;BAB71396;BAG60451;BAG62099;BAG63858;BAG64384;CAB97537;CAD39130;CAH18675;CAI45957;EAW74707;EAW74708;EAW74709;EAW74710;EAW74711;EAW74712;NP_001157632;NP_001157633;NP_001157634;NP_001157635;NP_001157636;NP_060782;Q5H9R7 Hs.503022 1647462;1649138;1651584;1674656;1682892;1709974;1752615;2144636;2148914;2150983;2158519;5095718 1282;A008K11;G30660;G59847;RH46314;RH46970;RH94210;SHGC-106488;SHGC-82255;STS-R16764;STS-R76484;WIAF-1529 C11orf23;DKFZp781E17107;DKFZp781E2374;DKFZp781O2362;FLJ11058;FLJ43065;KIAA1558;MGC125711;MGC125712;PP6R3;SAP190;SAPL;SAPLa;SAPS3 OTTHUMP00000236289;OTTHUMP00000236293;OTTHUMP00000236294;OTTHUMP00000236295;OTTHUMP00000236296;OTTHUMP00000236297;OTTHUMP00000236298;OTTHUMP00000236299;OTTHUMP00000236301;OTTHUMP00000236330;SAPS domain family, member 3;chromosome 11 open reading frame 23;protein phosphatase 6 regulatory subunit 3;serine/threonine-protein phosphatase 6 regulatory subunit 3;sporulation-induced transcript 4-associated protein SAPL APPROVED protein-coding ENSG00000110075 1173 10703 610879 VALIDATED 6484025 PQLC1P2 PQ loop repeat containing 1 pseudogene 2 4 q21.22 83612889 83613659 + 100127906 ABBA01063439;AC073413;AMYH01014355;NG_011784 pseudo 43987 INFERRED 1604734 PPTC7 PTC7 protein phosphatase homolog (S. cerevisiae) 12 12 12 q24.11 110598937 110647770 - 109456620 109505447 - 110972237 111021064 - 6480464 15177553;12477932;20877624;21906983;19322201 160760 Q8NI37 ABBA01005111;ABBA01005112;AC002350;AF385435;AK124744;AMYH01004743;AY357944;BC111551;CH471054;CR749216;NM_139283 AAI11552;AAM43836;AAQ57274;BAG54087;CAH18073;EAW97927;EAW97928;NP_644812;Q8NI37 Hs.13854 1659029;1664138;1678025;1678555;1736196;2149293;2181962 D12S1143E;D12S1451;RH68086;RH68687;RH91547;RH98858;SGC35037 DKFZp686M07120;MGC133072;TA-PP2C;TAPP2C OTTHUMP00000241442;T-cell activation protein phosphatase 2C-like;protein phosphatase PTC7 homolog protein-coding 30695 18141 609668 PROVISIONAL 731722 PPT2 palmitoyl-protein thioesterase 2 This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011] 6 6 6 p21.3 33688341 33698499 + 32229279 32239430 + 32121229 32131458 + 731239;1580863;6480464 9341199 10417332;19143821;16381901;15489336;15489334;14759258;14656967;14574404;12975309;12855696;12477932;11717424;11256614;11230166;11076863;10051407;17207965;19851445;20010835;16344560;22939629;21963094;23362303 9374 A2ABN6;A2ABN7;A2ARM6;A2ARM8;B0S865;B0S872;B0UYY2;B0UYY4;B0UYY6;B7Z424;G8JLE1;G8JLL2;Q5SSX6 ABBA01038106;ABBA01038107;AF020543;AI472281;AL110128;AL662828;AL662884;AL845464;AMYH01016234;BC000955;BC001355;BX284686;BX927239;CH471081;CR533546;CR753803;CR812478;CR933878;DA153675;DA352776;DA918701;NM_001204103;NM_005155;NM_138717;U89336;Y17958 AAB47495;AAB80730;AAH01355;ACE86903;ACE87590;CAB46981;CAB53659;CAG38577;CAL37712;EAX03591;EAX03592;EAX03593;EAX03594;EAX03595;EAX03596;NP_001191032;NP_005146;NP_619731;Q9UMR5 Hs.332138 1672589;1697398;1745967;1790811;2106229;7184113 D3A;D6S2669;RH102199;RH124332;WI-11350 C6orf8;DKFZp564P1516;G14;PPT-2 OTTHUMP00000029376;OTTHUMP00000029377;OTTHUMP00000029378;OTTHUMP00000029380;OTTHUMP00000205020;PPT-2;S-thioesterase G14;VE-statin2;lysosomal thioesterase PPT2;palmitoyl-protein hydrolase 2 APPROVED protein-coding ENSG00000221988 9326 04486 603298 REVIEWED 1346711 PR@ proline-rich protein gene cluster 3922350 5541 9335 1313123 PQLC1 PQ loop repeat containing 1 18 18 18 q23 74434080 74482339 - 75763475 75812605 - 77662420 77711653 - 737633;6480464 12477932 15489334;14702039;16751776;21139048;21906983 80148 B3KW14;G5E989;K7EMG2;K7EQ76;K7ERD3;K7ERV4;Q8N2U9 ABBA01013899;ABBA01013900;ABBA01013901;ABBA01013902;AC114341;AK026031;AK123870;AK126188;AK301881;AK303818;AMYH01009136;BC030140;CH471117;CQ834734;DB475520;DQ587675;NM_001146343;NM_001146345;NM_025078 AAH30140;BAB15329;BAG53976;BAH13575;BAH14059;CAH05582;EAW66635;EAW66636;EAW66637;NP_001139815;NP_001139817;NP_079354;Q8N2U9 Hs.288284 2150258 SGC32005 FLJ22378 OTTHUMP00000163843;OTTHUMP00000206112;PQ-loop repeat-containing protein 1 protein-coding ENSG00000122490 26188 11454 VALIDATED 737129 PPY pancreatic polypeptide This gene belongs to the NPY family and it encodes a protein that is synthesized as a 95 aa polypeptide precursor in the pancreatic islets of Langerhans. It is cleaved into two peptide products; the active hormone of 36 aa and an icosapeptide of unknown function. The hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. [provided by RefSeq, Jul 2008] 17 17 q21 39373698 39375359 - 42018172 42019833 - 1580863;6480464 2997153;6373251;17325259;17235527;17171555;16359755;15998783;15998659;15966750;15561938;15489334;14988250;12477932;12187924;11825648;11825647;11825640;8244379;7014602;6366786;6138294;6094571;3753985;1194289;782992;18577758;7493937;22673566;21813805;22399387;22979996;23371976 5539 K7EKP2;K7EML0;P01298 ABBA01028393;AC007993;AMYH01008409;BC032225;BC040033;BI838025;CH471178;M11726;M15788;NM_002722;X00491 AAA60156;AAA60161;AAH32225;AAH40033;ABM84647;ABM92176;CAA25161;EAW51649;NP_002713;P01298 Hs.558368;Hs.744427 1677532;1741195;2135858;5119723 GDB:178570;GDB:180950;RH71368;RH80047 PNP PP;pancreatic polypeptide Y;pancreatic prohormone;prepro-PP (prepropancreatic polypeptide) 2289501;2289511 BW444_H;BW453_H APPROVED protein-coding ENSG00000108849 9327 01340 167780 REVIEWED 7174937 PRADC1P1 protease-associated domain containing 1 pseudogene 1 3 p22.2 37017787 37018331 + 645571 ABBA01024860;AC011816;AMYH01013085;NG_022245 pseudo 44534 INFERRED 1323183 PQLC2 PQ loop repeat containing 2 1 1 1 p36.13 17965741 17982808 + 19511327 19528381 + 19638740 19655794 + 737633;6480464 12477932 16710414;16344560;15489334;14702039;23169667;16751776 54896 A2A2E6;E9PJZ6;E9PL93;Q6ZP29 ABBA01059757;ABBA01059758;AK000327;AK125580;AK130171;AK130175;AK172745;AL035413;AMYH01000316;BC015324;CH471134;DA202894;DA560373;NM_001040125;NM_001040126;NM_017765 AAH15324;ADZ15808;BAA91088;BAC85296;BAC85298;BAD18732;BAG54217;EAW94882;EAW94883;EAW94884;EAW94885;EAW94886;EAW94887;NP_001035214;NP_001035215;NP_060235;Q6ZP29 Hs.647620 5037552 D8S2279 FLJ20320;FLJ23906;FLJ26661;FLJ26665;RP4-657E11.5 OTTHUMP00000002621;OTTHUMP00000002649;OTTHUMP00000184894;PQ-loop repeat-containing protein 2;lysosomal amino acid transporter 1 homolog protein-coding ENSG00000040487 26001 17896 614760 VALIDATED 1315648 PQLC3 PQ loop repeat containing 3 2 2 2 p25.1 11211350 11234837 + 11212991 11236451 + 11295540 11319000 + 737633;6480464 12477932 15815621;15489334;14702039;8889549;17207965 130814 B4DWA4;B5MC27;C9J4B6;G5E9P4;H7C493;Q8N755 AA076049;ABBA01015643;AC018463;AK001091;AK301439;AK313402;AL161956;AL548337;AMYH01010110;AMYH01010111;BC027625;CH471053;NM_152391 AAH27625;AAX93048;ADQ32785;BAE46613;BAG36198;BAG62966;EAX00939;EAX00940;EAX00941;EAX00942;NP_689604;Q8N755 Hs.274415 1663708;2171659 D2S2908;RH18382 C2orf22;MGC33602 OTTHUMP00000147595;OTTHUMP00000200416;OTTHUMP00000200635;PQ-loop repeat-containing protein 3;chromosome 2 open reading frame 22 protein-coding ENSG00000162976 28503 12810 VALIDATED 1601770 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 5 5 5 q12.3 61857596 61881833 + 64894891 64919129 + 64859063 64883376 + 6480464 18397323;15489334;12477932;11991638;7584044;18029348;21139048;21890473;14702039;8889548 23398 B4DWR9;D6R9Q1;D6RA12;D6RB19;D6RD43;D6RDA4;D6RHV0;F5H7P7;H0Y8N5;Q96BP3 ABBA01048329;AC008560;AK025679;AK057718;AK093675;AK298175;AK300022;AK301654;AMYH01015133;AMYH01015134;BC015385;BM669378;BX642958;CH471137;D38552;DB454273;NM_001278926;NM_001278927;NM_001278929;NM_015342;NR_046348;NR_046349;NR_046350 AAH15385;ACT64396;ACT64397;BAA07555;BAG60446;BAG61834;BAG63131;EAW51352;NP_001265855;NP_001265856;NP_001265858;NP_056157;Q96BP3 Hs.121432 1730217;2131447;2132760;2138354;2167531;2171651;5015961;5022322;5037552 1740;D11S2560;D15S1477;D5S437E;D8S2279;RH17439;RH68805;SHGC-33865;STS-F13799 FLJ33156;FLJ36356;KIAA0073 OTTHUMP00000161887;peptidylprolyl isomerase domain and WD repeat-containing protein 1;spliceosome-associated cyclophilin protein-coding ENSG00000113593 28954 11063 VALIDATED 1604644 PQBP1 polyglutamine binding protein 1 This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009] X X p11.23 48640139 48645364 + 48755195 48760422 + 6480464;6907045;7240710 22889411;9875212;10198427;18029348;19119319;18599155;16713569;16493439;16169070;16104847;15782410;15635413;15489334;15355434;15146197;15024694;14634649;12477932;12062018;11163963;11054566;10873650;10593949;10332029;9599645;9545405;7211958;20307692;20410308;19377476;19847789;20211142;16055720;21204222;17332742;20886605;21267006;21832049;22939629;21315190;19366705;21933836;21139048;22901698;22365833 10084 C9JQA1;H7C053;Q4VY36 AB016533;AB041832;AB041833;AB041834;AB041835;AB041836;ABBA01046078;ABBA01046079;AC233300;AF207550;AJ005893;AJ242829;AJ973593;AJ973594;AJ973595;AJ973596;AJ973597;AJ973598;AJ973599;AJ973600;AJ973601;AJ973602;AJ973603;AJ973604;AJ973605;AJ973606;AJ973607;AMYH01022290;BC012358;BE385548;BE396796;BI818141;BX362311;BX369697;CD051018;CD365745;CH471224;CN292761;CN292769;CS691419;NG_015967;NG_015968;NM_001032381;NM_001032382;NM_001032383;NM_001032384;NM_001167989;NM_001167990;NM_001167992;NM_005710;NM_144495 AAH12358;ABM83147;ABM85809;BAA76400;BAB16702;BAB16703;BAB16704;BAB16705;BAB16706;BAB16707;BAB16708;BAB16709;CAA06750;CAB44309;CAJ00537;CAJ00538;CAJ00539;CAJ00540;CAJ00541;CAJ00542;CAJ00543;CAJ00544;CAJ00545;CAJ00546;CAJ00547;CAJ00548;CAJ00549;CAJ00550;CAJ00551;CAP12212;EAW50735;EAW50736;EAW50737;EAW50738;NP_001027553;NP_001027554;NP_001027555;NP_001027556;NP_001161461;NP_001161462;NP_001161464;NP_005701;NP_652766;O60828 Hs.534384 1339184;1776797;2219556;5016429;5021594;5109989;5110035;5110962;7183753;7186041 D11S2591;D11S2593;D11S2618;D11S2846;D11S2920;DXS1039;DXS1068;PQBP1__5573;STS-R01143 MRX55;MRXS3;MRXS8;NPW38;RENS1;SHS 38 kDa nuclear protein containing a WW domain;OTTHUMP00000025808;OTTHUMP00000025809;OTTHUMP00000025812;PQBP-1;nuclear protein containing WW domain 38 kD;polyglutamine tract-binding protein 1;polyglutamine-binding protein 1 APPROVED protein-coding ENSG00000102103 9330 02354 300463;309500 REVIEWED 1601838 PRAC prostate cancer susceptibility candidate This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008] 17 17 17 q21 43253227 43254028 - 44154080 44154881 - 46799081 46799882 - 6480464 12477932;11340635 84366 Q96KF2 ABBA01041174;AC091179;AF331165;AMYH01008456;BC030950;BU535394;CH471109;NM_032391 AAH30950;AAK38837;EAW94717;NP_115767;Q96KF2 Hs.116467 C17orf92;MGC32520 OTTHUMP00000216941;prostate, rectum and colon expressed gene protein;small nuclear protein PRAC APPROVED protein-coding ENSG00000159182 30591 17897 609819 REVIEWED 1352558 PRADC1 protease-associated domain containing 1 2 2 2 p13.2 73305961 73311182 - 73308642 73313864 - 73455134 73460356 - 6480464 15498570;15489334;12975309;12477932;21139048;21890473 84279 Q9BSG0 ABBA01075579;AC010913;AK312077;AMYH01010436;AY358605;BC005069;CH471053;NM_032319 AAH05069;AAQ88968;AAX88901;ADZ15819;BAG35013;EAW99742;EAW99743;NP_115695;Q9BSG0 Hs.61268 1699350;2119523 RH103262;RH68102 C2orf7;MGC13004;PAP21 OTTHUMP00000160195;hPAP21;protease-associated domain-containing glycoprotein 21 kDa;protease-associated domain-containing protein 1;protease-associated domain-containing protein of 21 kDa APPROVED protein-coding ENSG00000135617 16047 12815 PROVISIONAL 1604432 PRAMEF12 PRAME family member 12 1 1 1 p36.21 11947529 11950594 + 12757571 12760636 + 12834984 12838049 + 16710414;21139048 390999 O95522 ABBA01003098;AL023753;AMYH01000261;NM_001080830 AAI52935;NP_001074299;O95522 Hs.156406 OTTHUMP00000001924;PRAME family member 12 protein-coding ENSG00000116726 22125 PROVISIONAL 1606073 PRAMEF13 PRAME family member 13 1 1 p36.21 13320001 13325243 - 13447414 13452656 - 400736 Q5VWM6 ABBA01017204;ABBA01017205;ABBA01017206;AL365443;AMYH01000262;NM_001024661 NP_001019832;Q5VWM6 Hs.531192 2133169;5112247 D1S2582;RH102749 OTTHUMP00000009723;PRAME family member 13 protein-coding ENSG00000204495 13262 PROVISIONAL 1350856 PRAF2 PRA1 domain family, member 2 X X X p11.23 52732829 52735673 + 48815762 48818606 - 48928818 48931662 - 1580863;6480464 18395978;17975142;16481131;15757671;15489334;14702039;12477932;20412121;21203533;21139048 11230 A6NP52;O60831 ABBA01046110;AC231657;AF196779;AJ005896;AK023433;AK315374;AMYH01022292;BC021213;CH471224;CR457023;NM_007213 AAH21213;BAG37767;BAG51191;CAA06753;CAG33304;EAW50706;EAW50707;NP_009144;O60831 Hs.29595 1698870 RH103001 FLJ57916;JM4 Jena-Muenchen 4;OTTHUMP00000032407;PRA1 domain family 2;PRA1 family protein 2 protein-coding ENSG00000243279 28911 06596 300840 PROVISIONAL 1604124 PRAMEF15 PRAME family member 15 1 1 1 p36.21 11997440 12004261 - 13514560 13521575 + 13641973 13648987 + 653619 Q5VWM5 AK124292;AL603890;AMYH01000262;BC101343;BC137391;BC171794;BX470067;NM_001098376 AAI01344;AAI37392;AAI71794;NP_001091846;Q5VWM5 Hs.551617 PRAMEF9 OTTHUMP00000009645;PRAME family member 9/15 protein-coding ENSG00000157358 26764 VALIDATED 1606052 PRAMEF14 PRAME family member 14 1 1 p36.21 13540856 13546098 - 13668269 13673511 - 16710414;23000965 729528 A6NFR9;Q5SWL7 AL603890;AMYH01000262;NG_033159;NM_001099854 NP_001093324;Q5SWL7 Hs.745511 OTTHUMP00000009641;PRAME family member 14 pseudo ENSG00000204481 13576 INFERRED 1603300 PRAMEF1 PRAME family member 1 This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. [provided by RefSeq, Sep 2011] 1 1 1 p36.21 11964054 11968598 + 12774133 12778810 + 12851546 12856777 + 16710414;14702039;12477932;16159394 65121 B1AJS3;B3KWQ4;O95521;Q8IW67 ABBA01003099;AK125568;AL022101;AL023753;AL049686;AMYH01000261;BC040902;BC144199;CH471130;NG_027549;NM_023013 AAH40902;AAI44200;BAG54216;CAB41257;EAW71748;EAW71749;NP_075389;O95521 Hs.454859 5124794 RH92903 RP5-845O24.1;dJ1198H6.1 OTTHUMP00000001925;PRAME family member 1 APPROVED protein-coding ENSG00000116721 28840 11272 REVIEWED 1626253 PRAMEF18 PRAME family member 18 1 1 1 p36.21 12177047 12180563 - 13346640 13350156 - 13474053 13477569 - 16159394;21347312 391003 Q5VWM3 AL365443;NM_001099850 NP_001093320;Q5VWM3 Hs.712521 OTTHUMP00000002959;PRAME family member 18 protein-coding 30693 INFERRED 1602375 PRAMEF19 PRAME family member 19 1 1 p36.21 13567476 13570992 - 13694889 13698405 - 16710414 645414 F5H544;Q5SWL8 AL603890;AMYH01000262;NM_001099790 NP_001093260;Q5SWL8 Hs.700537 OTTHUMP00000009644;PRAME family member 19 protein-coding ENSG00000204480 24908 VALIDATED 1601784 PRAMEF11 PRAME family member 11 1 1 p36.21 12807055 12815863 - 12884468 12891264 - 6480464 16710414;12477932 440560 O60813 AL022101;AL049680;AMYH01000261;BC144426;NM_001146344 AAI44427;CAB41252;NP_001139816;O60813 Hs.551617 RP5-845O24.2 OTTHUMP00000001927;PRAME family member 11 protein-coding ENSG00000204513 14086 VALIDATED 1604582 PRAM1 PML-RARA regulated adaptor molecule 1 The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008] 19 19 p13.2 8460940 8473495 - 8554940 8567538 - 6480464 19109227;18391951;16831444;16502582;16502581;15637062;15572693;15489334;12477932;11301322;9570750;8806687;11430826;19623654;16344560;16432238;16449642;16730330;14976551;18073335;21163940;21673516;21803845 84106 K4DI84;M0R149;Q96QH2 ABBA01010841;AC092298;AC136469;AJ272324;AK308227;AMYH01009443;BC028012;BI907455;CH471139;DA350460;NM_032152 AAH28012;ABM81983;ABW03611;CAC17767;EAW68917;EAW68918;NP_115528;Q96QH2 Hs.465812 MGC39864;PML-RAR;PRAM-1 OTTHUMP00000237315;PML-RARA target gene encoding an Adaptor Molecule-1;PML-RARA-regulated adapter molecule 1;PRAM APPROVED protein-coding ENSG00000133246 30091 05926 606466 REVIEWED 1604150 PRAMEF21 PRAME family member 21 1 1 1 p36.21 12224958 12229938 + 13394550 13399530 + 13521963 13526943 + 16159394 391001 Q5VT98 ABBA01017207;ABBA01017208;AL365443;NM_001100114 NP_001093584;Q5VT98 Hs.700560 PRAMEF20 OTTHUMP00000002951;OTTHUMT00000008157;PRAME family member 20/21 protein-coding ENSG00000204486 22405 VALIDATED 1626252 PRAMEF20 PRAME family member 20 1 1 p36.21 13609494 13620390 + 13736907 13747803 + 16710414 645425 Q5VT98 AL603749;AMYH01000262;NM_001099852 NP_001093322;Q5VT98 Hs.700561 OTTHUMP00000009638;PRAME family member 20/21 protein-coding ENSG00000204478 25224 PROVISIONAL 2298737 PRAMEF22 PRAME family member 22 1 1 p36.21 12958130 12960968 + 13035543 13038381 + 16710414;16159394 653606 A3QJZ6 CR589905;NM_001100631 A3QJZ6;NP_001094101 Hs.712522 PRAMEF3L OTTHUMP00000083450;PRAME family member 22;PRAME family member 3-like protein-coding ENSG00000204508 34393 VALIDATED 1606369 PRAMEF3 PRAME family member 3 1 1 p36.21 13200783 13204279 - 13328196 13331692 - 16710414 401940 J3KPD8;Q5TYW8 AMYH01000262;BX649449;NM_001013692 AAI48461;AAI53057;NP_001013714;Q5TYW8 Hs.558935 OTTHUMP00000011037;PRAME family member 3 protein-coding ENSG00000204503 14087 18435 VALIDATED 2300353 PRAMEF23 PRAME family member 23 1 1 p36.21 13031110 13045164 - 13108838 13122577 - 16710414;21139048 729368 A6NMV5 BX640550;XM_001130065 A6NMV5;XP_001130065 5014053 D1S3693 PRAMEF5L PRAME family member 23 protein-coding 34394 MODEL 1603846 PRAMEF10 PRAME family member 10 1 1 p36.21 12875314 12880681 - 12952727 12958094 - 6480464 16710414;15489334;12477932 343071 O60809 AL022101;AL049682;AMYH01000261;BC112208;BC112210;NM_001039361 AAI12209;AAI12211;CAB41254;NP_001034450;O60809 Hs.684629;Hs.715459 MGC138413;MGC138415;RP5-845O24.7 OTTHUMP00000001962;PRAME family member 10 protein-coding ENSG00000187545 27997 VALIDATED 1606074 PRAMEF4 PRAME family member 4 1 1 p36.21 12861632 12868612 - 12939033 12946025 - 16710414 400735 O60810 AL022101;AL049681;AMYH01000261;NM_001009611 CAB41253;NP_001009611;O60810 Hs.551617 5014053 D1S3693 RP5-845O24.6 OTTHUMP00000001966;PRAME family member 4 protein-coding ENSG00000243073 31971 17992 VALIDATED 1349908 PRAME preferentially expressed antigen in melanoma This gene encodes an antigen that is predominantly expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. This expression pattern is similar to that of other CT antigens, such as MAGE, BAGE and GAGE. However, unlike these other CT antigens, this gene is also expressed in acute leukemias. Five alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.22 21220123 21231696 - 22890123 22901696 - 1580863;6480464;6484676 19471584 21145461;22912744;14667819;19027161;18988867;18950857;18815192;18709641;18648365;18587578;18452107;18295331;17693191;17624586;17534929;17382387;16914202;16860864;16681423;16620968;16179254;15489334;15461802;15240516;12688312;12477932;12419593;11943337;11298586;10741395;10682862;10591208;9753074;9751617;9619397;9466265;9047241;8889548;20376794;18088454;18088461;19035174;19473719;19474511;19625708;20805128;20838376;21278353;21550659;23409080;21822215;20723287;21928126;22390931;21139048;21906983;21691740;22261449;21347312;22503131;22384167;21963094;23000965;23075240;23460923;22505724 23532 B5MCY4;B5MD04;E7EMH2;E7EW99;F5H4B1;F8WF80;H7C2P3;P78395 ABBA01055086;ABBA01055087;AF025440;AK129783;AK302188;AK304593;AK312769;AK316395;AMYH01012639;BC014074;BC022008;BC039731;BM015464;BQ432004;BU151249;CF121110;CH471095;CR456549;D87011;D87013;NG_000002;NM_006115;NM_206953;NM_206954;NM_206955;NM_206956;U65011 AAC39560;AAC51160;AAH14074;AAH22008;AAH39731;ABM84399;ABM87326;BAG35634;BAH13644;BAH14222;BAH14766;CAG30435;CAK54580;CAK54879;EAW59518;EAW59519;EAW59520;EAW59521;EAW59522;EAW59523;NP_006106;NP_996836;NP_996837;NP_996838;NP_996839;P78395 Hs.30743 1650332;2109693;2135163 PRAME_9364;RH48178;RH70693 CT130;MAPE;OIP-4;OIP4 OIP-4;OTTHUMP00000199309;OTTHUMP00000199310;OTTHUMP00000199311;OTTHUMP00000199312;OTTHUMP00000199314;Opa-interacting protein OIP4;cancer/testis antigen 130;melanoma antigen preferentially expressed in tumors;opa-interacting protein 4;preferentially expressed antigen of melanoma APPROVED protein-coding ENSG00000185686 9336 05820 606021 REVIEWED 1604149 PRAMEF8 PRAME family member 8 1 1 p36.21 13259233 13263352 - 13386646 13390765 - 6480464 16710414 391002 Q5VWM4 ABBA01203065;AL365443;AMYH01000262;NM_001012276 NP_001012276;Q5VWM4 Hs.631872 OTTHUMP00000009725;PRAME family member 8 protein-coding ENSG00000182330 24074 17382 PROVISIONAL 1602373 PRAMEF17 PRAME family member 17 1 1 1 p36.21 12198245 12201221 + 13588675 13591651 + 13716088 13719064 + 16710414;12477932 391004 Q5VTA0 ABBA01017206;AL603749;AMYH01000262;BC144662;BC146858;CH471167;NM_001099851 AAI44663;AAI46859;EAW51687;NP_001093321;Q5VTA0 Hs.684629 MGC178210;MGC181961 OTTHUMP00000009637;PRAME family member 17 protein-coding ENSG00000204479 29485 PROVISIONAL 2293902 PRAMEL preferentially expressed antigen in melanoma-like 22 22 22 q11.22 6163013 6215773 - 20675496 20728256 - 22345497 22398256 - 649179 AK131325;XM_001717401;XM_001719151;XM_002343768 BAD18485;Q6ZN90;XP_001717453;XP_001719203;XP_002343809 Hs.553939 1659419;1729191 RH48655;UniSTS:146579 FLJ16327 preferentially expressed antigen in melanoma-like protein-coding 34302 1602776 PRAMEF16 PRAME family member 16 1 1 p36.21 13367841 13370847 + 13495254 13498260 + 12477932;23000965 654348 Q5VWM1 AL365443;NM_001045480 NP_001038945;Q5VWM1 Hs.684629 OTTHUMP00000002960;PRAME family member 16 protein-coding ENSG00000204488 25767 VALIDATED 1603804 PRAMEF6 PRAME family member 6 1 1 p36.21 12920889 12929993 - 12998302 13007406 - 16710414;12477932 440561 Q5VXH4 ABBA01179502;AL358783;AMYH01000261;BC101342;NM_001010889 AAI01343;NP_001010889;Q5VXH4 Hs.567864 5014053 D1S3693 OTTHUMP00000001964;PRAME family member 6 protein-coding ENSG00000232423 30583 17358 VALIDATED 1603849 PRAMEF5 PRAME family member 5 1 1 p36.21 13232406 13241644 + 13359819 13369057 + 6480464 16710414;12477932 343068 Q5TYX0 ABBA01003099;AMYH01000262;BC101344;BC130274;BC130276;BX649449;NM_001013407 AAI01345;AAI30275;AAI30277;ADR83031;NP_001013425;Q5TYX0 Hs.567864 5014053 D1S3693 OTTHUMP00000011089;PRAME family member 5 protein-coding ENSG00000204502 27995 VALIDATED 1603801 PRAMEF7 PRAME family member 7 1 1 p36.21 12900100 12902820 + 12977513 12980233 + 16710414;12477932 441871 Q5VXH5 AL358783;AMYH01000261;BC140755;BC144565;NM_001012277 AAI40756;AAI44566;NP_001012277;Q5VXH5 Hs.553832 MGC178110 OTTHUMP00000001963;PRAME family member 7 protein-coding ENSG00000204510 28415 17409 PROVISIONAL 1606783 PRAMEF2 PRAME family member 2 1 1 p36.21 12839528 12844351 + 12916941 12921764 + 6480464 16710414;15489334;15252450;12477932;21139048 65122 O60811 ABBA01003099;AL022101;AL049674;AMYH01000261;BC075008;BC075009;CH471130;DQ786308;NM_023014 AAH75008;AAH75009;CAB41247;EAW71753;NP_075390;O60811 Hs.104991 5124794 RH92903 DJ845O24.3;FLJ43580;RP5-845O24.1 OTTHUMP00000001965;PRAME family member 2 protein-coding ENSG00000120952 28841 11273 PROVISIONAL 1348170 PRB1 proline-rich protein BstNI subfamily 1 This gene encodes a precursor for proline-rich salivary proteins. This and five other genes that encode salivary proline-rich proteins (PRPs)form a PRP gene cluster in the chromosomal 12p13 region. Precursor salivary PRPs are cleaved multiple times to produce a diversity of secreted peptides. Alleles of this gene exhibit tandem repeat length variation in the coding region as well as polymorphic cleavage sites and polymorphic stop codons. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 12 12 p13.2 11396024 11399791 - 11504757 11508524 - 1580863;6480464 12477932;11422372;11329013;9796777;9487127;8422499;8317492;7118863;6924859;6810092;6671974;6089212;3521730;3055850;2993301;2851479;1618808;877561;12549820 5542 G3V1M9;G3V1R1;P04280 ABBA01067818;ABBA01067819;AC010176;AMYH01004281;BC044827;BC141917;BG216715;BX485626;BX487087;CH471094;K02575;K02576;K03204;K03205;K03206;M97220;NM_005039;NM_199353;NM_199354;S52986;S62928;S62929;S62941;X07516;X07517 AAA13341;AAA36502;AAA36503;AAA60185;AAA60186;AAA60187;AAB05816;AAB27288;AAB27289;AAH44827;AAI41918;CAA30394;CAA30395;EAW96233;EAW96234;NP_005030;NP_955385;NP_955386;P04280 Hs.631726 1659132;1661594;1683267;2150782;2187150 D12S1808;G41283;RH39754;RH66398;RH71399 PM;PMF;PMS;PRB1L;PRB1M BstNI type basic salivary proline-rich protein 1;OTTHUMP00000240115;OTTHUMP00000240116;PRB1 large length copy;basic proline-rich protein;basic salivary proline-rich protein 1;parotid middle band protein;salivary proline-rich protein 1;salivary protein Pe APPROVED protein-coding ENSG00000251655 9337 01623 180989 REVIEWED 1354045 PRAP1 proline-rich acidic protein 1 10 10 10 q26.3 128351341 128356680 - 135010901 135016177 + 135160844 135166187 + 6480464 14583459;12975309;12477932;9065197;17207965;18624398;20674898;23235459 118471 A6XND8;Q96NZ9 ABBA01006213;AF123768;AF421885;AL360181;AMYH01003237;AY158074;AY358908;BC029447;BC061643;BC071872;BC093853;BC101743;BC143590;BC143591;BC143592;CH471211;DQ884405;NM_001145201;NM_145202 AAH29447;AAH61643;AAH71872;AAH93853;AAI01744;AAI43591;AAI43592;AAI43593;AAL16670;AAN87018;AAP97247;AAQ89267;ABI63372;ADQ32013;EAW61336;NP_001138673;NP_660203;Q96NZ9 Hs.15951 MGC126792;PRO1195;RP11-122K13.6;UPA OTTHUMP00000020800;epididymis tissue protein Li 178;proline-rich acidic protein 1 protein-coding ENSG00000165828 23304 17898 609776 VALIDATED 1353961 PRCA1 prostate cancer 1 7240710 1565627 337932 9342 601518 7245141 PRC1-AS1 PRC1 antisense RNA 1 16344560;20581827 100507118 AA403001;ABBA01053074;AC068831;AMYH01006924;BI829394;CD244496;DB034560;DB039836;DB522174;DB527917;NR_051984 Hs.366401;Hs.741626 1655860 G28408 miscrna ENSG00000258725 48587 VALIDATED 1603847 PRAMEF9 PRAME family member 9 1 1 p36.21 13291781 13300778 + 13421176 13428191 + 16710414;15489334;14702039;12477932 343070 Q5VWM5 AK124292;AL365443;AMYH01000262;BC101343;BC137391;BC171794;NM_001010890 AAI01344;AAI37392;AAI71794;NP_001010890;Q5VWM5 Hs.551617;Hs.631873 PRAMEF15 OTTHUMP00000009724;PRAME family member 9/15 protein-coding ENSG00000204501 27996 18596 VALIDATED 1344983 PRB2 proline-rich protein BstNI subfamily 2 12 12 p13.2 11435741 11439768 - 11544474 11548498 - 15923424;15077161;12477932;8554050;8422499;7118863;6924859;6874669;6344862;6089212;3178140;2993301;2851479;2307469;1849422;22142827 653247 H3BR58;P02812 ABBA01067819;ABBA01067820;AC078950;AC126171;AMYH01004281;AMYH01004282;BX484538;CH471094;K02577;K02578;K03208;M97221;NM_006248;S80905 AAA36504;AAA36505;AAA60189;AAB50686;EAW96235;NP_006239;P02812 Hs.654486 1659132;1661594;1683267;2150782;2187150 D12S1808;G41283;RH39754;RH66398;RH71399 IB-9;PRPPRB1;Ps;cP7 Basic proline-rich peptide P-E;IB-9;OTTHUMP00000211205;basic salivary proline-rich protein 2;con1 glycoprotein;proline-rich protein BstNI, subfamily-2 (parotid size variant);salivary proline-rich protein 2 protein-coding ENSG00000121335 9338 18511 168810 VALIDATED 1345078 PRB3 proline-rich protein BstNI subfamily 3 The protein encoded by this gene is a proline-rich salivary protein. It is a major constituent of parotid saliva. This protein is proposed to act as a bacterial receptor. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. [provided by RefSeq, Jul 2008] 12 12 12 p13.2 16561234 16564894 - 11310124 11313908 - 11418857 11422641 - 1580863;6480464 12477932;10737800;8406834;7566098;3055850;2993301;2851479;2171329;1894623;4062880 5544 F5H7C1;Q04118 AA376677;AA376715;ABBA01067815;AC010176;AMYH01004281;BC096209;BC096210;BC096211;BC096212;BF155634;BX484729;BX485708;BX485709;CH471094;NG_013305;NM_006249;X07637;X07881 AAH96209;AAH96210;AAH96211;AAH96212;CAA30477;CAA30728;EAW96230;NP_006240;Q04118 Hs.73031 1742887;2121253;2122066 GDB:214813;RH77972;STS-X07881 G1;MGC116862;MGC116863;MGC116864;PRG BstNI type basic salivary proline-rich protein 3;G1 parotid salivary glycoprotein;OTTHUMP00000240024;basic salivary proline-rich protein 3;parotid salivary glycoprotein G1;proline-rich protein G1 APPROVED protein-coding 9339 01352 168840 REVIEWED 1352111 PRB4 proline-rich protein BstNI subfamily 4 The protein encoded by this gene is a proline-rich salivary protein. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 p13.2 11351282 11354633 - 11460015 11463369 - 1580863;6480464 8373986;17294201;12477932;11422372;9487127;8554050;8422499;6841349;6810092;6377992;3220251;3055850;2993301;2851479 5545 A2VCL9;E7EXA8;E9PAL0;P10163 ABBA01067818;AC010176;AMYH01004281;BC035362;BC128191;BC130386;CH471094;K03207;NM_001261399;NM_002723;S80916;X07704;X07715;X07882 AAA60188;AAB50687;AAI28192;AAI30387;CAA30542;CAA30543;CAA30729;EAW96231;NP_001248328;NP_002714;P10163 Hs.528651 1649606 RH71347 Po BstNI type basic salivary proline-rich protein 4;OTTHUMP00000240113;basic salivary proline-rich protein 4;parotid 'o' protein;parotid o protein;saliary protein Po;salivary proline-rich protein II-1;salivary proline-rich protein Po APPROVED protein-coding ENSG00000230657 9340 01624 180990 REVIEWED 1348235 PRD primary retinal dysplasia 7240710 8401512 5548 9345 1351660 PRDM12 PR domain containing 12 9 9 9 q33-q34 104078514 104096917 + 132529802 132548205 + 133539981 133558384 + 1580863;6480464 14675547;14523459;11274145;10668202 59335 Q9H4Q4 ABBA01012055;ABBA01012056;ABBA01012057;ABBA01012058;AL359092;AMYH01021771;AMYH01021772;AY004252;CH471090;NM_021619 AAG13447;AAI72255;EAW87940;NP_067632;Q9H4Q4 Hs.495311 PFM9 OTTHUMP00000022367;PR domain zinc finger protein 12;PR domain-containing protein 12;PR-domain containing protein 12;PR-domain zinc finger protein 12 protein-coding ENSG00000130711 13997 17900 VALIDATED 1343614 PRDM11 PR domain containing 11 11 11 11 p11 45262624 45394602 + 45072140 45203479 + 45115564 45256675 + 14702039;14675547;10668202;23408906 56981 E9PJ09;H3BSZ2;Q9NQV5 AA468074;ABBA01060762;ABBA01060763;ABBA01060764;ABBA01060765;AC103681;AC103682;AF275818;AK024304;AK094792;AK097878;AMYH01003526;AMYH01003527;AW665411;CH471064;DR731303;NM_001256695;NM_001256696;NR_046338 AAF87244;AAI48348;BAC04425;BAC05192;EAW68048;EAW68049;NP_001243624;NP_001243625;Q9NQV5 Hs.178715 1708982;1738015;1754809;1769200;1774561;1847320;1850121;1851511;1851827;2144792;2146295;2156459;2161817;2166688;2169662;2169664;2184032;2189765;2217828 A006C44;D11S2322E;D11S3626;D11S4633;D1Bda2;G02149;G02301;G20711;PRDM11_3660;RH46268;RH48132;RH48405;SHGC-141727;SHGC-31737;SHGC-36809;SHGC-53097;SHGC-56565;SHGC-57630;SHGC-79552 FLJ14242;PFM8 OTTHUMP00000232975;OTTHUMP00000232977;PR domain-containing protein 11;PR-domain containing protein 11 protein-coding ENSG00000019485 13996 11456 VALIDATED 1322406 PRDM13 PR domain containing 13 6 6 6 q16.2 100698764 100707568 + 100161371 100170175 + 100054650 100063454 + 1580863;6480464 14574404;12800201;11181995;19336002;21102462 59336 Q7Z5E7;Q9H4Q3 ABBA01014479;AL035087;AL137784;AMYH01016537;AY004253;AY130010;CH471051;NM_021620 AAG13448;AAI56414;AAI72472;AAN05093;EAW48461;EAW48462;NP_067633;Q9H4Q3 Hs.287386 2217830 PRDM13_3668 MU-MB-20.220;PFM10 OTTHUMP00000016899;OTTHUMP00000016900;PR domain zinc finger protein 13;PR domain-containing protein 13;PR-domain containing protein 13;PR-domain zinc finger protein 13 protein-coding ENSG00000112238 13998 17901 VALIDATED 1323391 PRDM1 PR domain containing 1, with ZNF domain This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008] 6 6 q21 106640888 106664506 + 106534195 106557814 + 1580863;6480464 1851123;19433448;19269192;19234190;19194464;19047678;18992153;18845144;18604866;18596541;18583325;18552212;18370921;18354204;18256039;18235046;18192112;18089822;18071884;17682124;17379744;17264218;17213024;17043021;16849320;16765445;16713569;16585013;16547239;16492805;16424392;16002735;14985713;12626569;12477932;12453881;12165517;12150891;11877292;11342629;11067898;9887105;8921366;8168136;8033216;21102463;22585398;10713181;16699504;17877160;19124609;19530237;19563034;19717648;19735688;19828629;19828640;19838193;19838195;19898481;19915048;20047096;20379614;19788443;19760754;20944005;20530581;20859709;20966935;21216962;23028907;21103670;21722313;21785431;21411757;21622776;21722636;21690554;22438909;22593617;18400362;20800019;22143801;19322201;22020966;22634616;22040493;22278826;22555612;22580854;23129528;22939624;23273568;23348703 639 B2REA4;B2REA5;B4DW27;O75626 ABBA01026203;AF084199;AK129768;AK289556;AK301341;AL022067;AL358952;AL832963;AMYH01016564;AY198414;AY198415;BC103832;BC103833;BC103834;BC103835;CH471051;EF151143;NG_029115;NM_001198;NM_182907 AAC33300;AAI03833;AAI03834;AAI03835;AAI03836;AAO45623;AAO45624;ABL96617;ACE86710;ACE87395;BAF82245;BAG62889;CAH56276;EAW48419;EAW48420;EAW48421;EAW48422;NP_001189;NP_878911;O75626 Hs.436023 1796572;1855460;2119764 D6S1217E;D6S1410;PRDM1_1073 BLIMP1;MGC118922;MGC118923;MGC118924;MGC118925;PRDI-BF1 B-lymphocyte-induced maturation protein 1;BLIMP-1;OTTHUMP00000016918;OTTHUMP00000016919;OTTHUMP00000202173;PR domain zinc finger protein 1;PR domain-containing protein 1;PR-domain zinc finger protein 1;PRDI-binding factor 1;PRDI-binding factor-1;beta-interferon gene positive regulatory domain I-binding factor;beta-interferon gene positive-regulatory domain I binding factor;positive regulatory domain I-binding factor 1 APPROVED protein-coding ENSG00000057657 9346 04572 603423 REVIEWED 1348926 PRDM10 PR domain containing 10 The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 11 11 11 q25 126937763 127040883 - 129274811 129377940 - 129769601 129872730 - 1580863;6480464 12477932;21145461;12175877;10574462;19773279;20095854;20805357 56980 E9PIB4;E9PLV1;E9PRS0;E9PS52;Q9ULI9 AB033057;ABBA01023022;ABBA01023023;ABBA01023024;AF275817;AF503171;AK000234;AK310354;AL833172;AMYH01004125;AP003041;AP003326;AP003327;BC112934;BC117415;BC143612;BC143613;BX648944;CH471065;NM_020228;NM_199437;NM_199438;NM_199439 AAF87243;AAI12935;AAI17416;AAI43613;AAI43614;AAP30847;BAA86545;BAA91026;EAW67761;NP_064613;NP_955469;NP_955470;NP_955471;Q9NQV6 Hs.275086 1672001;1782244;2116549;2116551;2142326;2163471;2187140;5022132;5024262;5119761 A005L34;D11S1199;D11S2281E;D11S3991;D11S4274;D11S4283;G20316;GDB:181268;RH70351;SHGC-108125 KIAA1231;MGC131802;PFM7 OTTHUMP00000230911;OTTHUMP00000230912;OTTHUMP00000230913;OTTHUMP00000230914;OTTHUMP00000230915;OTTHUMP00000230916;OTTHUMP00000230917;PR domain zinc finger protein 10;PR domain-containing protein 10;PR-domain family member 7;PRDM zinc finger transcription factor;tristanin APPROVED protein-coding ENSG00000170325 13995 11455 REVIEWED 1603415 PRCD progressive rod-cone degeneration This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] 17 17 17 q25.1 71116007 71133795 + 72047767 72052047 + 74523668 74541458 + 7240710 16938425;14702039;12477932;20507925;20301590 768206 Q00LT1 ABBA01028738;ABBA01028739;AC015802;AK054729;AK125617;AL567583;AMYH01008644;AMYH01008645;BC043413;BC146898;BC146904;DQ390338;NG_016702;NM_001077620;NR_033357 AAI46899;AAI46905;ABD17429;NP_001071088;Q00LT1 Hs.634380;Hs.743588 1335368;1688289;1709176 D15S1009;RH94299;SHGC-85751 RP36 progressive rod-cone degeneration protein APPROVED protein-coding 32528 610598;610599 REVIEWED 1323372 PRC1 protein regulator of cytokinesis 1 This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 15 15 q26.1 89310272 89338808 - 91509268 91537881 - 1580863;6480464 14744859;9885575;18570919;17233835;16964243;16603632;16565220;16189514;15625105;15616196;15531928;15489334;15297875;12477932;12082078;19664331;20691902;20889853;20581827;17351640;19447967;19468300;19561070;19609347;20056645;20379614;20360068;22939629;18029348;19531213;22623531;19471022;21139048;21906983;12889596;16344560;17409436;18587273;20962590;21693658;22278743;22323288;22621898;22419124;20467438;21963094;23349393 9055 F8W9B5;G3V3N7;H0YL53;H0YLA0;H0YM42;H0YNE4;H3BSJ8;H9KV59;O43663 ABBA01053074;ABBA01053075;AC068831;AF044588;AK297117;AK304094;AK312600;AMYH01006924;BC003138;BC005140;BG773441;BG823292;BU634391;BX457401;BX647317;CH471101;CS537414;CS537416;CS537418;DA655494;DW423775;NM_001267580;NM_003981;NM_199413 AAC02688;AAH03138;AAH05140;ABM83859;ABM87181;BAG59623;BAG65000;CAM84944;CAM84945;CAM84946;EAX02134;EAX02135;EAX02136;EAX02137;EAX02138;NP_001254509;NP_003972;NP_955445;O43663 Hs.366401 1655860 G28408 ASE1;MGC1671;MGC3669 OTTHUMP00000246702;OTTHUMP00000246704;OTTHUMP00000246706;anaphase spindle elongation 1 homolog;protein regulating cytokinesis 1;protein regulator of cytokinesis 1 APPROVED protein-coding ENSG00000198901 9341 17899 603484 REVIEWED 1319153 PRCC papillary renal cell carcinoma (translocation-associated) This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010] 1 1 q21.1 155003898 155037233 + 156737274 156770609 + 6480464;7240710 17332742;22939629;17081983;15489334;14718574;14702039;12477932;11717438;11435707;11313942;10644981;8986805;8872474;8431910;7853572;20029029;7507566;19422821;18029348 5546 A6NG79;H0Y679;H0YE12;Q92733;Q96FT4 AA846273;ABBA01016643;ABBA01016644;AK126403;AK289872;AL590666;AMYH01001439;AMYH01001440;AMYH01001441;BC004913;BC010450;BG746454;BM423590;BU942864;CH471121;NG_008138;NM_005973;S69270;X97124;X99720 AAH04913;AAH10450;BAF82561;CAA65791;CAA68060;EAW52908;EAW52909;NP_005964;Q92733 Hs.516948 1672158;1692010;1754117;2108389;2185270 AL009821;AL033656;D1S3554;PRCC_8562;SHGC-132150 MGC17178;MGC4723;RCCP1;TPRC OTTHUMP00000038719;papillary renal cell carcinoma translocation-associated gene protein;proline-rich protein PRCC APPROVED protein-coding ENSG00000143294 9343 01562 179755;605074 REVIEWED 1317272 PRCP prolylcarboxypeptidase (angiotensinase C) The protein encoded by this gene is a lysosomal prolylcarboxypeptidase, which cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 11 11 q14 82213057 82289205 - 82535409 82611557 - 1580863;6480464 28321;18656443;16681991;15489334;14996700;14702039;12768436;12477932;12123826;11830581;9325062;8344943;7626287;4297812;20628086;19913121;20540760;20516604;20517885;18396440;20079160;21087932;22863883;22079761;21890473;21906983;22268729 5547 B7Z7Q6;E9PIG4;E9PKN6;E9PL49;E9PL85;E9PLY4;E9PNF7;E9PNJ1;E9PQB5;E9PQN3;E9PR42;P42785 AB451270;AB451397;ABBA01017369;AK090847;AK091786;AK302386;AK312919;AMYH01003839;AP001646;BC001500;BI827978;BX537480;CH471076;DB461615;L13977;NM_005040;NM_199418 AAA99891;AAH01500;ABM83994;ABM87320;BAG35764;BAG52238;BAG52417;BAG70084;BAG70211;BAH13692;EAW75074;EAW75075;EAW75076;NP_005031;NP_955450;P42785 Hs.523936 1341262;1688873;1725829;1754005;1774898;1796570;1855358;2120476;2157741;2181662;5022578;5123650;7185517 D11S1365;D11S2617;D11S4568;D11S4598;D1S1423;G62002;PRCP_1071;RH92893;SGC34782;SHGC-132051;SHGC-36305;STS-L13977 HUMPCP;MGC2202;PCP OTTHUMP00000234371;OTTHUMP00000234372;angiotensinase C;lysosomal Pro-X carboxypeptidase;lysosomal carboxypeptidase C;proline carboxypeptidase;prolylcarboxypeptidase isoform 1 preproprotein APPROVED protein-coding ENSG00000137509 9344 08352 176785 REVIEWED 1350258 PRDM6 PR domain containing 6 5 5 5 q23.2 118380070 118479243 + 122452740 122551644 + 122424841 122523745 + 1580863;6480464 20379614 93166 H7BZR2;Q9NQX0 ABBA01068945;ABBA01068946;AC008548;AC106786;AF272898;AF272899;AK297992;AMYH01015587;AMYH01015588;NM_001136239 AAF78078;AAF78079;BAG60300;NP_001129711;Q9NQX0 Hs.135118 1776979;1785458 L28179;SHGC-149439 OTTHUMP00000197432;PR domain zinc finger protein 6;PR domain-containing protein 6;PR-domain zinc finger protein 6;putative histone-lysine N-methyltransferase PRDM6 protein-coding ENSG00000061455 9350 VALIDATED 1316344 PRDM14 PR domain containing 14 This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011] 8 8 8 q13.3 66961694 66981231 - 71126575 71146116 - 70963886 70983562 - 1580863;6480464 18194669;17942894;15489334;14702039;14675547;12477932;10737800;10668202;20840815;20953172;20211142 63978 C9JMM8;Q9GZV8 ABBA01041936;AC090574;AF319458;AK022595;AMYH01018782;BC052311;BF770200;CH471068;CX166395;CX788380;NM_024504 AAG39635;AAH52311;ABZ92370;ADR82707;BAB14120;EAW86962;NP_078780;Q9GZV8 Hs.736037 1706456;2217832 PRDM14_3672;SHGC-81111 MGC59730;PFM11 OTTHUMP00000197599;PR domain zinc finger protein 14;PR domain-containing protein 14;PR-domain zinc finger protein 14 APPROVED protein-coding ENSG00000147596 14001 11457 611781 REVIEWED 1320736 PRDM15 PR domain containing 15 21 21 21 q22.3 28368174 28447099 - 42091454 42172660 - 43218385 43299591 - 1580863;6480464;6484113 15904895;14702039;12477932;12036298;12036297;10830953;19340012;22451204;23006423 63977 E7ER26;E9PDJ6;E9PF37;E9PGL3;F6QQW4;P57071;Q4W8S1;Q4W8S5 AB051812;AB051813;AB051814;AB051815;AB126081;AB209162;ABBA01012274;ABBA01012275;ABBA01012276;ABBA01012804;ABBA01014182;ABBA01014183;ABBA01014184;ABBA01014185;AF086532;AF276513;AF426259;AF426260;AK123273;AL109788;AL355710;AMYH01012263;AMYH01012264;AP001580;AP001618;AP001619;AP001745;AP002955;AY063456;AY078498;BC067102;CH471079;NM_001040424;NM_022115 AAF78093;AAH67102;AAL60596;AAL85487;AAM53515;AAM53516;BAA95527;BAD92399;BAD99015;BAD99016;BAD99017;BAD99018;BAD99019;BAD99020;EAX09584;EAX09585;EAX09586;EAX09587;NP_001035514;NP_071398;P57071 Hs.473893;Hs.726680 1651619;1685808;1770069;1790643;2120707;2157931;2166239;2217834;5022200;5037552 A002A42;D21S1833;D8S2279;L18426;PRDM15_3671;RH93238;SHGC-52071;SHGC-87659;SHGC-87660;STS_CEB274 C21orf83;PFM15;ZNF298 OTTHUMP00000109278;OTTHUMP00000109282;OTTHUMP00000207900;OTTHUMP00000207901;PR domain zinc finger protein 15;PR domain-containing protein 15;zinc finger protein 298 protein-coding ENSG00000141956 13999 11458 VALIDATED 1349245 PRDM9 PR domain containing 9 The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM, Mar 2008] 5 5 p14 23543481 23564463 + 23507724 23528706 + 6480464 19168450;18941885;18231586;14675547;10668202;20041164;20044538;20044539;20044541;20818382;2062643;21750151;23267059;22162947;22643917;23190393 56979 D6RD68;Q9NQV7 ABBA01066611;ABBA01066612;ABBA01066613;ABBA01066614;AC025451;AF275816;AK301776;AMYH01014971;CH471118;DQ388610;GU216222;GU216223;HM210983;HM210984;HM210986;HM210999;NM_020227 AAF87242;ABD47939;ADA71145;ADA71146;ADK09877;ADK09878;ADK09880;ADK09893;BAG63234;EAX10738;EAX10739;EAX10740;NP_064612;Q9NQV7 Hs.283096 1779106;2217838 L28288;PRDM9_3659 MEISETZ;MSBP3;PFM6;PRMD9;ZNF899 OTTHUMP00000220835;PR domain zinc finger protein 9;PR domain-containing protein 9;PR-domain containing protein 9;histone-lysine N-methyltransferase PRDM9;minisatellite binding protein 3 (115kD);minisatellite binding protein 3, 115kDa APPROVED protein-coding ENSG00000164256 13994 17905 609760 PROVISIONAL 1348506 PRDM2 PR domain containing 2, with ZNF domain This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 1 1 p36.21 13903937 14024162 + 14026735 14151574 + 1580863;6480464 7590293;8654390;7538672;18029348;19124506;19064572;18852888;18712668;18488713;18037365;17963297;17922684;17693662;17356055;17205536;17103461;17081983;16953217;16710414;16501248;15809732;15579774;15488642;15309726;15302935;14633678;14534544;12477932;12472571;12082534;12002276;11719434;10737800;10706618;9766644;9334209;9006946;8661032;15765097;22300346;20594067;19602237;19746436;19843671;20159667;20508921;9632640;20878080;20960050;21041608;20675009;21369371;15282304;20828818;9223517;22372344;21503890;22363126;23098508;22614009 7799 D6RAA0;D6RED5;D6RJM6;H0Y9J3;Q13029;Q5THJ1 AB208877;ABBA01017223;ABBA01017224;AF472587;AI651991;AK123605;AK124197;AK293725;AK300441;AK307377;AK308135;AK311678;AL031277;AL359771;AL583942;AMYH01000262;AW444997;BC014468;BC032768;BC140012;BF378912;BM008289;BU621515;BX647310;CH471167;D45132;NM_001007257;NM_001135610;NM_012231;NM_015866;U17838;U23736 AAA87023;AAC50820;AAI72414;BAA08110;BAD92114;BAG57154;BAG62164;EAW51695;EAW51696;EAW51697;EAW51698;NP_001007258;NP_001129082;NP_036363;NP_056950;Q13029 Hs.371823 1644733;1644816;1645221;1664470;1684836;1707798;1709748;1732894;1767988;1794432;1794434;2155179;2217836;5014051;5015961;5016478;5021684;5022651;5037552 D11S2921;D15S1477;D1S1311;D1S1554;D8S2278;D8S2279;GDB:434012;PMC312773P2;PMC312773P3;PRDM2_3895;RH92373;SHGC-57622;SHGC-74220;SHGC-74233;SHGC-74237;SHGC-82124;SHGC-84685;WI-14635;ksks160 HUMHOXY1;KMT8;MTB-ZF;RIZ;RIZ1;RIZ2 GATA-3 binding protein G3B;GATA-3-binding protein G3B;MTE-binding protein;OTTHUMP00000009642;OTTHUMP00000009685;OTTHUMP00000009686;OTTHUMP00000009687;OTTHUMP00000221538;PR domain zinc finger protein 2;PR domain-containing protein 2;lysine N-methyltransferase 8;retinoblastoma protein-binding zinc finger protein;retinoblastoma protein-interacting zinc finger protein;zinc finger protein RIZ;zinc-finger DNA-binding protein APPROVED protein-coding ENSG00000116731 9347 03120 601196 REVIEWED 1353101 PRDM16 PR domain containing 16 The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 p36.23-p33 2975604 3345045 + 2985742 3355185 + 1580863;6480464 11050005;19285866;19240061;19049980;18767145;18202228;16637659;16598304;16582916;14712237;14702039;14656887;12557231;12477932;12168954;11214970;8547101;4063527;12816872;19505873;22383139;20634891;19567523;19641492;20101261;20379614;20339536;21666692;22072275;21516122;22039459;22050763;21906983;23454374;22939622 63976 D3YTA5;D6RDW0;D6RFY3;F8WEV3;H0YA13;Q9HAZ2 AB051462;AB078876;ABBA01073660;ABBA01073661;ABBA01073662;ABBA01073663;ABBA01073664;ABBA01073665;ABBA01073666;ABBA01073667;AF294278;AI623202;AK093853;AK094178;AK309078;AL008733;AL354743;AL512383;AL590438;AMYH01000185;AMYH01000186;AMYH01000187;AMYH01000188;BC110593;BC161614;BQ897896;BX092842;CH471130;NG_029576;NM_022114;NM_199454 AAG33382;AAI61614;AAI68363;BAB21766;BAB84297;EAW71449;EAW71450;EAW71451;NP_071397;NP_955533;Q9HAZ2 Hs.99500 1644879;1691832;1713251;1724439;1732830;1732836;1732950;1733134;1733160;1747601;1749361;1762621;1763285;1766717;1779772 AL033971;D1S1274;D1S1278;D1S1341;D1S1448;D1S1467;G65472;RH120616;RH122382;SHGC-111116;SHGC-146428;SHGC-147011;SHGC-149994;SHGC-153745;SHGC-74091 KIAA1675;MEL1;MGC166915;PFM13 MDS1/EVI1-like gene 1;OTTHUMP00000000611;OTTHUMP00000000612;OTTHUMP00000000613;OTTHUMP00000221381;OTTHUMP00000221382;OTTHUMP00000221383;PR domain zinc finger protein 16;PR domain-containing protein 16;PR-domain zinc finger protein 16;transcription factor MEL1 APPROVED protein-coding ENSG00000142611 14000 16122 605557 REVIEWED 1354492 PRDX2P1 peroxiredoxin 2 pseudogene 1 13 13 13 p12 11939746 11940665 + 29768112 29769224 + 30870205 30871124 + 7607688 359844 ABBA01035702;AL356750;AMYH01005007;NG_002915 1801448;1861604;1861606;1861608;1861610;1861612;1861614;1861616;1861618;1861620;1861622;1861624;1861626;1861628;1861630;1861632;1861634;1861636;2197398 ECD01598;REN1460;REN1461;REN1462;REN1463;REN1464;REN1465;REN1466;REN1467;REN1468;REN1469;REN1470;REN1471;REN1472;REN1473;REN1474;REN1475;REN1476;stSG616755 pseudo 30020 INFERRED 7205014 PRDX2P2 peroxiredoxin 2 pseudogene 2 10 p11.21 35253997 35255184 + 646218 ABBA01033348;AL450337;AMYH01002233;NG_022167 pseudo 44967 INFERRED 7204926 PRDX2P3 peroxiredoxin 2 pseudogene 3 5 178999157 178999739 + 100418943 ABBA01010022;AC136604;AMYH01015955;NG_024751;NG_031967 pseudo 44968 INFERRED 7205335 PRDX2P4 peroxiredoxin 2 pseudogene 4 6 q16.2 100583868 100584752 + 442239 ABBA01014471;AL080285;AMYH01016541;NG_022363 1852356 STS-Z22548 pseudo 44969 INFERRED 4889295 PRDX3P1 peroxiredoxin 3 pseudogene 1 22 22 22925428 22926188 - 39118749 39119509 - 100419031 ABBA01055533;AL021707;AMYH01012765;NG_027433 pseudo 39264 INFERRED 1318295 PRDM5 PR domain containing 5 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008] 4 4 4 q25-q26 119000898 119228989 - 121835379 122063463 - 121615929 121844013 - 1580863;6480464 17903298;17699856;17636019;15077163;14702039;14675547;12477932;10668202;20213097;20332099;20379614;21326311;21664999;22087297;23251661 11107 H0Y9S1;Q0VAI9;Q9NQX1 ABBA01044721;AC025741;AC104068;AC104795;AF272897;AK056352;AK310958;AK314293;AMYH01014490;AW341546;BC030136;BC047115;BC066942;BC121037;BC121038;BM563688;BX646150;CH471056;NG_031862;NM_018699 AAF78077;AAH66942;AAI21038;AAI21039;BAG51686;EAX05267;EAX05268;EAX05269;NP_061169;Q9NQX1 Hs.666782;Hs.669312 1657993;1688152;1709064;1762257;1767573;1848510;2125399;7185604 D4S1125;D4S247;D4S2881;SHGC-12163;SHGC-146118;SHGC-50733;SHGC-85678 BCS2;PFM2 OTTHUMP00000163922;OTTHUMP00000219783;OTTHUMP00000219784;PR domain zinc finger protein 5;PR domain-containing protein 5 APPROVED protein-coding ENSG00000138738 9349 17902 614161;614170 REVIEWED 1313164 PRDM7 PR domain containing 7 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 75187748 75207107 - 88650475 88669839 - 90122974 90142338 - 1580863;6480464 18231586;17916234;14759258;14675547;12477932;10668202 11105 A4Q9G9;H3BUJ3;Q9NQW5 ABBA01014113;ABBA01014114;AC133919;AF274347;AF274348;AL137711;AM690991;AM690992;AM690993;AMYH01007942;BC107033;CH471184;NM_001098173;NM_052996 AAF78084;AAF78085;AAI07034;CAM84449;CAM84450;CAM84451;EAW66653;EAW66654;EAW66655;EAW66656;EAW66657;NP_001091643;NP_443722;Q9NQW5 Hs.406695 1779106 L28288 MGC129525;PFM4;ZNF910 OTTHUMP00000176850;PR domain zinc finger protein 7;PR domain-containing protein 7;PR-domain family protein 4;probable histone-lysine N-methyltransferase PRDM7 APPROVED protein-coding ENSG00000126856 9351 17903 609759 REVIEWED 4889363 PRDX3P3 peroxiredoxin 3 pseudogene 3 13 13 13 q13.3 20245311 20245886 - 38089556 38145153 - 39191559 39192134 - 100128902 ABBA01021324;AC017111;AMYH01005044;NG_021959 pseudo 39266 INFERRED 4889391 PRDX3P2 peroxiredoxin 3 pseudogene 2 1 1 1 p35.3 27248605 27249517 - 28717637 28731841 - 28852828 28853740 - 100128092 ABBA01035034;AL513497;AMYH01000432;NG_022715 1789304;5018033 G67872;PRDX3-1 pseudo 39265 INFERRED 7175196 PRDX3P4 peroxiredoxin 3 pseudogene 4 3 p14 64160077 64160823 + 100418955 ABBA01024311;AC092040;AMYH01013248;NG_025701;NG_031930 pseudo 44643 INFERRED 6480408 PRDX4P1 peroxiredoxin 4 pseudogene 1 4 44946456 44947016 - 100418949 ABBA01014313;AC093755;AMYH01014144;NG_025098 pseudo 43598 INFERRED 6480409 PRDX4P2 peroxiredoxin 4 pseudogene 2 5 38197719 38198247 + 100418942 ABBA01024197;AC010338;AMYH01015039;NG_024668 pseudo 43599 INFERRED 732265 PRDM4 PR domain containing 4 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008] 12 12 12 q23-q24.1 107792201 107820465 - 106650773 106679044 - 108126643 108154914 - 1580863;6480464;6907045 10552934;15489334;15231748;14702039;12477932;12371150;20379614;16751776;20211142;21604305;21890473;15051733 11108 B3KPI0;F8VRG2;F8VZQ2;H0YIF6;Q9UKN5 ABBA01053148;ABBA01053149;AC007622;AF144757;AK056378;AL133083;AL832804;AMYH01004726;AMYH01004727;BC035581;BC068562;BU502236;CH471054;NM_012406 AAD55249;AAH35581;AAH68562;ABM82163;ABM85348;BAG51692;CAB61401;CAI46888;EAW97804;EAW97805;NP_036538;Q9UKN5 Hs.506655 1670991;1671444;1671446;1686236;1689241;1699162;1712394;2108391;2130376;2181346 A005M11;G20329;G54223;PRDM4_7993;RH103160;RH79609;RH93454;STS-AA005240;STS-T67867;WI-18626 MGC45046;PFM1 OTTHUMP00000242462;PR domain zinc finger protein 4;PR domain-containing protein 4;PR-domain zinc-finger protein PFM1 APPROVED protein-coding ENSG00000110851 9348 10425 605780 REVIEWED 1323184 PRDM8 PR domain containing 8 4 4 4 q21 78399921 78418995 + 81325448 81344507 + 81106424 81125483 + 1580863;6480464 19430483;15489334;14675547;12477932;10668202;15342556;22961547 56978 E9PEH0;Q05CA1;Q9NQV8 ABBA01063401;AC021127;AF275815;AI077328;AK292137;AMYH01014344;BC027929;BC058908;BC071584;BP219935;CH471057;NM_001099403;NM_020226 AAF87241;AAH27929;AAH71584;BAF84826;EAX05851;EAX05852;EAX05853;EAX05854;EAX05855;EAX05856;EAX05857;EAX05858;NP_001092873;NP_064611;Q9NQV8 Hs.373642 1693280;2110675;2166945 G42343;PRDM8_8072;SHGC-67366 PFM5 OTTHUMP00000219208;OTTHUMP00000219209;OTTHUMP00000219210;PR domain zinc finger protein 8;PR domain-containing protein 8;PR-domain containing protein 8 protein-coding ENSG00000152784 13993 17904 VALIDATED 1349610 PRDX3 peroxiredoxin 3 This gene encodes a protein with antioxidant function and is localized in the mitochondrion. This gene shows significant nucleotide sequence similarity to the gene coding for the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase. Expression of this gene product in E. coli deficient in the C22-subunit gene rescued resistance of the bacteria to alkylhydroperoxide. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologues suggest that these genes consist of a family that is responsible for regulation of cellular proliferation, differentiation, and antioxidant functions. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q25-q26 120917205 120928335 - 120927215 120938345 - 1580863;6480464 21127481;7733872;18262354;17060495;12492477;18195003;12011429;18205602;15750338;17893648;19424615;19176523;19135121;18977241;18378575;17601350;17574212;17548047;16236267;16189514;15489334;15280382;15164054;12650976;12530083;12477932;12080185;12059788;11904290;11771746;11591653;11285261;9363753;8125298;1286669;21385867;22424448;20718351;16385451;18778410;19462976;19819956;20043069;20237496;20929858;20840079;20877624;21220625;22863883;23106098;18781797;21081666;21903422;22016591;20811636;22939629;20000738;21031435;21800051;21795677;19847302;21139048;21890473;21906983;23018647;22496757;22344546;21145461;21319273;22710126;19738201;19805454;21963094;21988832;22623428;23113308;23157748;23190175;23455922;17676665 10935 E9PH29;P30048 ABBA01062906;ABBA01062907;AF118073;AK130897;AK222659;AK313169;AL355861;AMYH01003111;AV718278;AV737791;BC002685;BC007062;BC008435;BC009601;BC021691;BC022373;BC059169;BC111397;BT020007;CH471066;CR450344;D49396;DQ298752;EF036492;HY173455;NM_006793;NM_014098;X85129 AAF22017;AAH02685;AAH07062;AAH08435;AAH09601;AAH21691;AAH22373;AAH59169;AAI11398;AAV38810;ABB84468;ABO65078;BAA08389;BAD96379;BAG35987;CAA59443;CAG29340;EAW49396;EAW49397;EAW49398;EAW49399;NP_006784;NP_054817;P30048 Hs.523302 1687217;1694576;1856583;2121711;2217842;5018033 G43270;PRDX3-1;PRDX3_3538;RH11191;RH68895;RH71324 AOP-1;AOP1;HBC189;MER5;MGC104387;MGC24293;PRO1748;SP-22;prx-III HBC189;OTTHUMP00000020590;antioxidant protein 1;peroxiredoxin III;peroxiredoxin-3;protein MER5 homolog;prx-III;thioredoxin-dependent peroxide reductase, mitochondrial APPROVED protein-coding ENSG00000165672 9354 05305 604769 REVIEWED 733744 PRDX1 peroxiredoxin 1 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011] 1 1 p34.1 45749294 45760196 - 45976707 45988562 - 1580863;6480464 17234762;17909037;8089076;11986303;17603937;19286652;19135121;19016754;18992915;18977241;18606987;18549262;18501712;18413821;18281480;18172504;17786348;17761673;17707450;17606720;17601350;17519234;17176052;17081065;16710414;16677601;16583711;16376335;16278420;16189514;16169070;15955662;15864612;15635413;15592455;15489334;15448164;15105503;14703116;12853451;12714748;12650976;12517450;12477932;12421812;12161445;12080185;12059788;11904290;11771746;11752456;11497302;10530780;10419887;9388242;9334312;8496166;8188254;8123050;8026862;7702627;22158042;12196529;17540176;18029348;19298244;19406930;19737972;19766572;19812042;19902980;20237496;20381070;20589759;20029029;16815975;21145461;21319273;20610706;20647304;16341674;20877624;21159870;17893145;22877757;22939629;21343392;19558833;21273562;20631257;21401077;10843682;17141802;18303054;23084401;23106098;22863883;16196087;19167051;21800051;21516123;21139048;21890473;21906983;21963094;21980378;15161933;15840729;18624398;21415862;21987572;22178446;22236188;19471022;22215146;17352427;19738201;19805454;21565611;21988832;22323290;22623428;22810585;23000965;23113308;23246001;22475482;16009940;21044950;22234250;23065574;23386615;23479738;23537643;22985558;22902630;23241402;17676665;18271526;19380743;22053931;22446018;22505724;22944692;19338310;23060010;23455922;22537621 5052 Q06830 AB451262;AB451388;ABBA01050865;ABBA01050866;ABBA01050867;AI912389;AK131049;AK311898;AL355480;AL451136;AMYH01000574;AV691526;BC007063;BC021683;BM740381;BM762399;BM787105;BM827394;BT019740;BU564066;CD638470;CH471059;CQ877459;CR407652;DQ297142;L19184;NM_001202431;NM_002574;NM_181696;NM_181697;X67951;X72296 AAA50464;AAH07063;AAH21683;AAV38545;ABB84465;ABM84099;ABM87471;BAG34839;BAG70076;BAG70202;CAA48137;CAG28580;CAH59516;EAX06975;EAX06976;EAX06977;EAX06978;EAX06979;EAX06980;EAX06981;EAX06982;NP_001189360;NP_002565;NP_859047;NP_859048;Q06830 Hs.180909;Hs.731900 1657787;1659968;1727091;1754047;1763031;2137153;5124866 A007G24;D1S2391;G62947;RH69651;RH70158;SHGC-132089;SHGC-146777 MSP23;NKEF-A;NKEFA;PAG;PAGA;PAGB;PRX1;PRXI;TDPX2 NKEF-A;OTTHUMP00000009234;OTTHUMP00000009235;OTTHUMP00000009237;natural killer cell-enhancing factor A;natural killer-enhancing factor A;peroxiredoxin-1;proliferation-associated gene A;proliferation-associated gene protein;thioredoxin peroxidase 2;thioredoxin-dependent peroxide reductase 2 APPROVED protein-coding ENSG00000117450 9352 01458 176763 REVIEWED 1347956 PRDX5 peroxiredoxin 5 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 q13 63842145 63845859 + 64085560 64089295 + 70622;1580863;6480464 10521424 15046979;18262354;19336475;19016754;18977241;18489898;18378575;18219526;17892856;17628720;17623739;17601350;16817890;16781710;15848167;15785239;15489334;15304327;15280035;15276323;22020876;22837380;10514471;10424490;10095767;1286669;16169070;14741336;14732291;14662316;12517450;12477932;12417342;11832487;11518528;10931946;10751410;10679306;19615732;20877624;20305821;21102463;20596022;20937353;20186120;21139048;21890473;21906983;21628590;20178365;22304920;23000965;23106098;21832049;22939629;23216451 25824 Q9UJU4 AA187737;ABBA01003296;AF110731;AF112212;AF124993;AF197952;AF231705;AF242525;AJ249483;AMYH01003705;AP001453;AP003774;BC110983;BC113723;BC113725;BC143849;BC171733;BU598032;CR457203;CS185549;DQ247769;HH826017;NM_012094;NM_181651;NM_181652 AAF03750;AAF04856;AAF17200;AAF27531;AAF78899;AAF99605;AAI10984;AAI13724;AAI13726;AAI43850;AAI71733;ABB05181;ADR82883;CAB62210;CAG33484;CAJ42730;CBX32673;NP_036226;NP_857634;NP_857635;P30044 Hs.502823 1660884;1719759;1735160;2154736;2167495;5015861;5124469 D10S16;D3S2813E;G33076;RH123571;RH93737;SGC30525;WI-8671 ACR1;AOEB166;B166;MGC117264;MGC142283;MGC142285;PLP;PMP20;PRDX6;PRXV;SBBI10;prx-V Alu co-repressor 1;OTTHUMP00000239506;OTTHUMP00000239507;OTTHUMP00000239508;TPx type VI;alu corepressor 1;antioxidant enzyme B166;liver tissue 2D-page spot 71B;peroxiredoxin V;peroxiredoxin-5, mitochondrial;peroxisomal antioxidant enzyme;prx-V;thioredoxin peroxidase PMP20;thioredoxin reductase APPROVED protein-coding ENSG00000126432 9355 05958 606583 REVIEWED 6482767 PRELID1P1 PRELI domain containing 1 pseudogene 1 6 q22.32 126964786 126965433 + 728666 ABBA01025941;AL359535;AMYH01016652;NG_022903 pseudo 43886 INFERRED 6482765 PRELID1P2 PRELI domain containing 1 pseudogene 2 6 25679007 25679651 - 100419971 ABBA01066548;AL022170;AMYH01016160;NG_025789 pseudo 43887 INFERRED 6482763 PRELID1P3 PRELI domain containing 1 pseudogene 3 10 65187057 65187703 + 100420046 AC022022;AMYH01002778;NG_025509 pseudo 43888 INFERRED 6482768 PRELID1P4 PRELI domain containing 1 pseudogene 4 15 q14 35413625 35414285 - 390572 ABBA01038507;AC021231;AMYH01006542;NG_022107 pseudo 43889 INFERRED 733019 PRDX2 peroxiredoxin 2 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013] 19 19 p13.2 12768634 12773694 - 12907634 12912694 - 1580863;6480464 8144038;16130169;12943237;11904290;19424615;19286652;19165527;19151395;19061854;18977241;18718523;18682255;18606987;18606608;18593714;18387321;18378575;18022079;18003920;17601350;17519234;17329258;17145963;17105810;16236267;15936593;15902258;15864612;15489334;15105503;14702039;12963914;12853451;12650976;12477932;12421812;12080185;11981869;11771746;11497302;11410278;10873855;10841776;10751418;9150948;8670254;8313871;8123012;8041738;8026862;7607688;1286667;17524271;20363977;17540176;18553980;19561357;19584157;19666612;19716412;19896490;20237496;18578994;20646000;20859956;20840079;21119665;20721618;21137073;21148313;22863883;22960070;19338310;23393224;23455922;21163940;21832049;22939629;22099303;21800051;21539911;18781797;21750082;22178446;22360420;22805285;21139048;21890473;21906983;19738201;19805454;21963094;21988832;22623428;23000965;23113308;22207736;22215146;19471022;16188094;21145461;21319273;22565169;23499777;23429506;22430214;15342556;18479207;22902630;23106098;23123411;22053931;22944692;22537621 7001 A6NIW5;P32119 ABBA01029773;AC018761;AK022395;AK289485;AK293957;AL600939;AMYH01009496;BC000452;BC003022;BC039428;BC064138;BG705975;BP248561;BQ549456;CH471106;CR450356;CR541789;DQ231563;L19185;NG_029901;NM_005809;NM_181738;X82321;Z22548 AAA50465;AAH00452;AAH03022;AAH39428;ABB02182;ABM86329;ABW03778;BAF82174;BAG57331;CAA57764;CAA80269;CAG29352;CAG46588;EAW84308;EAW84309;EAW84310;EAW84311;EAW84312;NP_005800;NP_859428;P32119 Hs.432121 1734618;1849597;1852356;2116325;2217840;5015861;5022322;5022576;5024039;7185938 A007L09;D10S16;D11S2560;D16S325;D19S627E;D1S1361;PRDX2_3483;STS-Z22548;WI-18593 MGC4104;NKEF-B;NKEFB;PRP;PRX2;PRXII;PTX1;TDPX1;TPX1;TSA NKEF-B;OTTHUMP00000165823;OTTHUMP00000165825;natural killer cell-enhancing factor B;natural killer-enhancing factor B;peroxiredoxin-2;thiol-specific antioxidant 1;thiol-specific antioxidant protein;thioredoxin peroxidase 1;thioredoxin-dependent peroxide reductase 1;torin APPROVED protein-coding ENSG00000167815 9353 02763 600538 REVIEWED 731497 PRDX4 peroxiredoxin 4 The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008] X X p22.11 23595566 23614435 + 23685645 23704514 + 1580863;6480464 9388242;19364504;18977241;18272409;18052930;17644091;17601350;16236267;15952740;15489334;12927788;12477932;12080185;12059788;11358524;21145461;22424448;20157331;20237496;20610706;21057456;20446767;21487000;21283726;22863883;20811636;20000738;20186120;22939629;21283059;21031435;21081666;21698479;18781797;21916849;21994946;22360420;21859152;21693047;21900206;22045733;21139048;21693764;21906983;22586326;23316297;21890473;21963094;21988832;22053931;22810585;23000965;23246001;22916164;23190175;23402259;23455922;17676665;22190034;22505724 10549 A6NG45;A6NJJ0;H7C3T4;Q13162 ABBA01072207;ABBA01072208;ABBA01072209;ABBA01072210;AC093011;AMYH01022150;BC003609;BC007107;BC016770;CH471074;CR541668;CR541705;NG_012563;NM_006406;U25182 AAB95175;AAH03609;AAH07107;AAH16770;ABM84525;ABM85953;CAG46469;CAG46506;EAW98996;NP_006397;Q13162 Hs.83383 1791630;1791632;1791634;1791636;1791638;1791640;1791642;5017890;5109733 D1S2039E;PMC117784P1;PMC117784P2;PMC117784P3;PMC117784P4;PMC117784P5;PMC117784P6;PMC117784P7;PRDX4 AOE37-2;PRX-4 OTTHUMP00000023056;antioxidant enzyme AOE372;peroxiredoxin IV;peroxiredoxin-4;prx-IV;thioredoxin peroxidase (antioxidant enzyme);thioredoxin peroxidase AO372;thioredoxin-dependent peroxide reductase A0372 APPROVED protein-coding ENSG00000123131 17169 05935 606506 REVIEWED 1602898 PRDX6 peroxiredoxin 6 The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008] 1 1 q25.1 171713109 171724569 + 173446486 173457946 + 6480464;6907045 10893423;9497358;18029348;19566940;19405953;19236840;19165527;19140803;18826942;18619034;18386021;18025307;17980029;17653765;16710414;16330552;16236267;16186110;15941719;15890616;15592455;15489334;14751239;12665801;12650976;12477932;12193653;12121978;12059788;11677226;11233154;9587003;9050990;8999971;8313871;7788527;2730891;1602151;1286669;240188;20354123;16815975;21145461;21319273;20796224;20485444;20532202;17207965;20877624;21166495;15604093;18973804;19572226;19700648;19889963;19937138;20237496;19188445;20829884;22939629;21346153;22178385;23164639;23402259;23455922;20000738;21627785;19135240;21800051;18781797;20849852;21081666;22236188;22990118;21044950;19738201;19805454;21963094;21988832;22623428;23000965;23113308;21139048;21415860;21890473;21906983;22215146;22678913;22985558;22053931;22505724;22663767 9588 P30041 ABBA01027905;AJ844621;AJ844622;AK289352;AK300680;AL139142;AMYH01001502;BC025421;BC035857;BC053550;CH471067;D14662;DQ230990;HH826019;NM_004905 AAH35857;AAH53550;ABB02185;ADQ32658;BAA03496;BAF82041;BAG62363;CAH59743;CBX32674;EAW90944;EAW90945;NP_004896;P30041 Hs.120;Hs.731505 1669974;1712104;1735104;1736366;1754045;1767841;1856960;2168027;2168729;2185062;5494185 D1S2049E;D1S3439;D3S2781E;G54101;Prdx5-rs2;RH11490;RH25333;SHGC-132088;SHGC-30150;SHGC-75911;WIAF-1576 1-Cys;AOP2;KIAA0106;MGC46173;NSGPx;PRX;aiPLA2;p29 1-Cys PRX;1-Cys peroxiredoxin;24 kDa protein;OTTHUMP00000032693;acidic calcium-independent phospholipase A2;antioxidant protein 2;liver 2D page spot 40;non-selenium glutathione peroxidase;peroxiredoxin-6;red blood cells page spot 12 APPROVED protein-coding ENSG00000117592 16753 03817 602316 REVIEWED 736364 PRES prestin (motor protein) 53408 613865 1352675 PREB prolactin regulatory element binding This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27199929 27203847 - 27207128 27211046 - 27353624 27357542 - 61705;1580863;6480464;6907045 10194769 11252894;11031247;19086053;15761153;15489334;14702039;12735795;12477932;10920239;18029348;19426980;20643408;22939629;20360068;21139048;21890473;21906983;22190034 10113 B5MC98;F8WCS5;H7BZX0;H7C0W3;H7C2N7;Q9HCU5 AA629936;ABBA01045195;AC013403;AF203687;AF226684;AF227166;AK001976;AK023064;AK023405;AK292178;AMYH01010194;BC002765;BC008658;BC012890;BC016472;BC016906;BC036185;BC041032;BG715668;CH471053;NM_013388 AAF19192;AAF74572;AAG01692;AAH02765;AAH12890;AAH16472;AAH16906;AAH41032;AAX93170;ABM83046;BAB14385;BAF84867;EAX00626;EAX00627;EAX00628;EAX00629;EAX00630;NP_037520;Q9HCU5 Hs.279784 1678143;1681223;1772066;2113566;2161521 MARC_49992-49993:1124119588:2;RH35839;RH92602;STS-N81134;WI-21131 MGC3467;SEC12 OTTHUMP00000122594;OTTHUMP00000200948;mammalian guanine nucleotide exchange factor mSec12;prolactin regulatory binding-element protein;prolactin regulatory element-binding protein APPROVED protein-coding ENSG00000138073 9356 16216 606395 REVIEWED 1317307 PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 8 8 8 q13.2 64857879 65137147 + 69027157 69306451 + 68864603 69143897 + 6480464 15304343;15897194;15761153;15304342;14702039;17565979;19729658;19861688;20379614;22622578;23033535 80243 Q70Z35 ABBA01041907;ABBA01041908;ABBA01041909;AC011853;AC103783;AC104416;AJ437636;AK023049;AK024079;AK294299;AMYH01018778;AMYH01018779;AY508996;AY508997;AY570973;BK005160;BK005161;NM_024870;NM_025170 AAI46370;AAI48796;AAS59407;AAS82571;AAS82572;BAB14375;BAG57581;CAD26885;DAA05333;DAA05334;NP_079146;NP_079446;Q70Z35 Hs.591867 1778948 D8S493 6230420N16Rik;DEP.2;DEPDC2;P-REX2 6230420N16Rik;DEP domain containing 2;DEP domain-containing protein 2;OTTHUMP00000226629;PtdIns(3,4,5)-dependent Rac exchanger 2;phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein protein-coding 22950 13135 612139 VALIDATED 1606141 PRELID2 PRELI domain containing 2 5 5 5 q32 141218657 141295020 - 145118775 145195092 - 145138582 145214899 - 6480464 14702039;12477932;20379614;20877624;17207965 153768 D6RAB6;Q8N945 ABBA01026346;AC011355;AC011359;AK095695;AK125215;AMYH01015680;BC012033;BC028175;BU167299;BU186346;CH471062;NM_138492;NM_182960;NM_205846 AAH12033;ADQ31783;BAC04611;EAW61857;EAW61858;NP_612501;NP_892005;NP_995318;Q8N945 Hs.314261 1338437;5015619;5015961;5037552;7187959 D11S3114;D15S1477;D5S436;D8S2279 FLJ38376;MGC21644 OTTHUMP00000223713;OTTHUMP00000223714;OTTHUMP00000223715;OTTHUMP00000223716;PRELI domain-containing protein 2 protein-coding ENSG00000186314 28306 14479 VALIDATED 1604018 PRELID1 PRELI domain containing 1 This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] 5 5 5 q35.3 171767411 171770526 - 176663441 176666556 + 176730835 176733950 + 6480464 10931946;10784606;15489334;14640972;12477932;22666421;10810093;18029348;20877624;22703881;21364629;21890473;21906983;18945965 27166 D6RC47;D6RD25;D6REW1;H0YA79;Q9Y255 AA844687;ABBA01033458;AC146507;AF087858;AF111112;AF112203;AF151864;AF153607;AF201925;AK312170;AMYH01015872;BC000007;BC007268;BC008307;BC008866;BC013733;BC013748;BC018904;BG739785;BU956915;CH471195;NM_001271828;NM_013237;U94779 AAD34101;AAD41089;AAF09255;AAF17191;AAF27195;AAH00007;AAH07268;AAH08307;AAH08866;AAH13733;AAH13748;AAP97168;ABM81968;ABM85147;BAG35104;EAW85021;EAW85022;EAW85023;NP_001258757;NP_037369;Q9Y255 Hs.279529 1682039;2144299;5019557;5126215 G09547;G54137;RH69707;STS-N94309 CGI-106;MGC87972;PRELI;PX19;SBBI12 25 kDa protein of relevant evolutionary and lymphoid interest;OTTHUMP00000161433;OTTHUMP00000223599;OTTHUMP00000223602;PRELI domain-containing protein 1, mitochondrial;protein of relevant evolutionary and lymphoid interest;px19-like protein protein-coding ENSG00000169230 30255 16149 605733 REVIEWED 1606027 PREPL prolyl endopeptidase-like The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] 2 2 p21 44399406 44440393 - 44544746 44589001 - 6480464 18234729;16913837;16385448;16143824;15913950;12477932;12225859;11524703;9455477;7829101;16344560;16713569;19575798;19615732;22939629;19322201;21139048;21890473;21906983;22796000 9581 C9JMT4;H7BZP6;H7C0M0;Q96DW7 AB007896;ABBA01075107;AC013717;AC016703;AK025649;AK131463;AMYH01010305;AW020480;BC013193;BC151236;BG717492;CA951923;CH471053;CX166315;DA246860;DA410514;DQ023503;DQ023504;DQ023505;DQ023506;DQ023507;NG_016429;NM_001042385;NM_001042386;NM_001171603;NM_001171606;NM_001171613;NM_001171617;NM_006036 AAH13193;AAI43062;AAI43063;AAI51237;AAX88956;AAY89634;AAY89635;AAY89636;AAY89637;AAY89638;BAA23709;BAD18608;EAX00275;EAX00276;EAX00277;NP_001035844;NP_001035845;NP_001165074;NP_001165077;NP_001165084;NP_001165088;NP_006027;Q4J6C6 Hs.444349 1649716;1676978;1708566;1745891;1745893;1778605;2165488;2180424 D2S2562;GDB:681472;GDB:681483;RH12757;RH19832;RH69205;RH94171;SHGC-85069 FLJ16627;KIAA0436 OTTHUMP00000202417;OTTHUMP00000202418;OTTHUMP00000202419;OTTHUMP00000202420;OTTHUMP00000202421;OTTHUMP00000202422;OTTHUMP00000202423;OTTHUMP00000202424;OTTHUMP00000202425;OTTHUMP00000202426;prolyl endopeptidase-like;putative prolyl oligopeptidase APPROVED protein-coding ENSG00000138078 30228 17189 609557 REVIEWED 732518 PREP prolyl endopeptidase The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008] 6 6 q22 105832199 105957662 - 105725442 105850999 - 1580863;6480464 9695945;17454876;17401647;17324276;16700513;16092940;15838896;15380924;14702039;12603817;12477932;11792464;11137456;8893811;8889548;8089089;7959018;7588785;6389730;6358755;3891453;3525564;20370893;3480758;3292288;2858361;12173;16344560;20362629;16341674;20534982;19782684;19795399;20195514;20379614;20468064;20869470;22939629;21620802;22990118;23041349;23643808;22586326;22132071;21487212;18781797;21139048;21890473;21906983;22740343;22750443;22797925 5550 B2RAH7;H0Y5Y0;P48147 AB020018;AB028867;ABBA01014392;AK314195;AL133406;AL139191;AL590871;AMYH01016559;AY660966;BC030636;BM828521;BU728077;CH471051;D21102;DA790125;NG_011472;NM_002726;X74496 AAH30636;AAV70495;ABM84353;ABM87741;BAA04661;BAA86936;BAB19053;BAG36874;CAA52605;EAW48426;NP_002717;P48147 Hs.436564 1696138;1717501;1778152;1797172;1848401;1849179;1855969;2107523;2124044;2135437;2135880;2137661;2140066 A003P37;D6S1850;D6S2192;PREP;PREP__6930;RH122256;RH15820;RH36060;RH46657;RH46808;RH65519;SHGC-30773;SHGC-79072 MGC16060;PE;PEP OTTHUMP00000016916;dJ355L5.1 (prolyl endopeptidase);post-proline cleaving enzyme;prolyl endopeptidase;prolyl oligopeptidase APPROVED protein-coding ENSG00000085377 9358 02673 600400 REVIEWED 732559 PRELP proline/arginine-rich end leucine-rich repeat protein The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 1 1 q32 201711506 201727103 + 203444883 203460480 + 6480464 7592739;17123807;17093390;15489334;14702039;12477932;12437997;12107410;11847210;9806887;8954791;8889548;19536175;20201926;22267731 5549 P51888;Q7Z4B2 ABBA01027480;ABBA01027481;AK098245;AL391817;AMYH01001655;BC032498;BE275567;BG569381;BI770477;BM705293;BQ010158;BQ181008;BQ182260;BQ706095;BQ777133;BQ778242;CA393630;CA776651;CH471067;CR541787;CR542270;DB498999;NM_002725;NM_201348;R83537;U29089;U41344 AAC18782;AAC50230;AAH32498;CAG46586;CAG47066;EAW91481;NP_002716;NP_958505;P51888 Hs.632481 1652712;1758555;1767142;2108393;2115624;2172131;5022578;5037552;5093226;5109281 A009J41;D1S1423;D1S1425;D1S2097;D8S2279;G32594;PRELP_8563;RH36150;SHGC-148747;SHGC-76172 MGC45323;MST161;MSTP161;SLRR2A 55 kDa leucine-rich repeat protein of articular cartilage;OTTHUMP00000034099;prolargin;prolargin proteoglycan;proline arginine-rich end leucine-rich repeat protein;proline-arginine-rich end leucine-rich repeat protein APPROVED protein-coding ENSG00000188783 9357 03556 601914 REVIEWED 1319063 PRG4 proteoglycan 4 The protein encoded by this gene is a large proteoglycan specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q25-q31 184532041 184550311 + 186265405 186283688 + 1580712;1580863;6480464;7240710 16429407 16000300;15710563;15302935;14976050;14702039;12783322;12475643;11124536;10743795;9920774;9550484;8185311;10545950;17404241;17343281;16710414;16344560;16335952;20443780;20800603;17474147;18512776;18769058;19058183;19900364;20237496;22865664;22930755;21565623;21647956;22073377;22490392;20467438;21955422;23174700;17308074;22678705 10216 E7EQ48;E9PLR3;J3KP74;Q92954 ABBA01027705;AK057197;AK131434;AK297718;AK301343;AK301487;AK308235;AL133553;AMYH01001562;AY653037;AY653038;CH471067;DA977744;DC295855;DC404857;NG_008248;NM_001127708;NM_001127709;NM_001127710;NM_005807;U70136 AAB09089;AAT74745;AAT74746;BAD18580;BAG51882;BAG62891;BAH12654;BAH13495;EAW91201;EAW91202;NP_001121180;NP_001121181;NP_001121182;NP_005798;Q92954 Hs.647723 1658922;1681877;1725665 G31461;G62041;RH80846 CACP;FLJ32635;HAPO;JCAP;MSF;SZP;bG174L6.2 OTTHUMP00000033580;OTTHUMP00000228757;OTTHUMP00000228758;articular superficial zone protein;bG174L6.2 (MSF: megakaryocyte stimulating factor );lubricin;megakaryocyte stimulating factor;megakaryocyte-stimulating factor;proteoglycan 4;superficial zone proteoglycan APPROVED protein-coding ENSG00000116690 9364 05047 208250;604283 REVIEWED 1603014 PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008] 20 20 q13.13 46674200 46877827 - 47240793 47444420 - 2314605;6480464 19305425 11955434;18697831;18602983;17903302;17698854;17565979;17227822;16301320;15545267;15489334;14702039;12477932;12168954;12123595;11780052;11549316;11230166;10718198;17353931;22558309;21042280;11756498;12376548;12787561;19911011;20018810;20036214;20074642;20379614;21172654;20650312;21441931;21339740;21636851;23033535;18029348;22242915;21890473;22207728;22321011;23496005 57580 H0YDZ4;Q9H4Q6 AB037836;ABBA01052721;ABBA01052722;ABBA01052723;ABBA01052724;ABBA01052725;ABBA01052726;AJ320261;AK090860;AL035106;AL133342;AL136579;AL445192;AL832913;AMYH01011958;AMYH01011959;BC009948;BC053616;CH471077;NM_020820 AAH53616;AAI56403;BAA92653;CAB66514;CAC86401;CAH10614;EAW75684;EAW75685;EAW75686;NP_065871;Q8TCU6 Hs.153310 1335086;1340113;1648720;1675053;1759007;1765165;1767604;1767606;1779390;1848654;1851129;1857764;2169764;2180084;5092924 A005U44;A009C21;D20S176;D20S866;G20522;G32415;RH16260;RH47999;SHGC-148678;SHGC-153381;SHGC-3429;WI-13364;Z94459;Z94587;Z94620 KIAA1415;P-REX1 OTTHUMP00000031228;phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein;ptdIns(3,4,5)-dependent Rac exchanger 1 APPROVED protein-coding ENSG00000124126 32594 06066 606905 REVIEWED 1320501 PRG3 proteoglycan 3 11 11 11 q12 54500834 54505212 - 56900819 56905199 - 57144242 57148623 - 1580863;6480464 15489334;10318872;17136616;12975309;12477932;11170744;20379614;21048031;22412388;17308074 10394 Q9Y2Y8 ABBA01021470;AF132209;AF304354;AMYH01003652;AP000781;AY358930;BC069126;BC101613;BC113411;CH471076;NM_006093 AAD24471;AAG41952;AAH69126;AAI01614;AAI13412;AAQ89289;ADR82866;EAW73738;NP_006084;Q9Y2Y8 Hs.251386 1703354 SHGC-68609 MBP2;MBPH;MGC126662;MGC141971 OTTHUMP00000234773;eosinophil major basic protein homolog;prepro-MBPH;prepro-major basic protein homolog;proteoglycan 3 protein-coding ENSG00000156575 9363 08434 606814 VALIDATED 1350272 PRF1 perforin 1 (pore forming protein) The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 10 10 q22 72027110 72032537 - 72357104 72362531 - 1599929;1599935;1580863;6480464;6482802;6482798;6482805;6482824;6482803;6482801;6482808;6482809;6482811;6482812;6482817;6482822;6482795;6482788;6482789;6482814;6482815;6482818;6482810;6482806;6482807;6482819;6482820;6482790;6907045;7240710 11179007;10886554;21542827;21906646;19680139;17622272;21525386;21619669;20523897;12060139;20019066;19785028;22001684;22420317;21908734;22396645;22021194;19651871;22250087;21426642;20049711;20708278;20537642;21157294;20921521 10779745;1505959;19380804;19284501;19258923;19150377;19058215;18927437;18710388;18615597;18580471;18523274;18496551;18311812;18275349;18198357;18190960;18097852;17873118;17724145;17703412;17674359;17652853;17627755;17477373;17475905;17311987;17266056;17222571;17055354;16914553;16908262;16860143;16791263;16770700;16720836;16611257;16611250;16524880;16374518;16344560;16278825;15998831;15921391;15818305;15728124;15641052;15576364;15489334;15342365;15336785;15164054;15113754;15028722;14996347;14757862;14697980;14634500;14512315;12919092;12672182;12574394;19141320;12477932;12372421;12368910;12270380;12131187;12072512;12009596;11586066;11565555;11082062;10583959;10072525;9671507;9557729;8770355;8676885;3419519;3261391;2592021;2480391;2425429;2420467;2395434;16967044;22169516;21307295;20580434;20638125;20229057;20225066;20368273;11911826;16169070;16385451;19394279;19553259;19639728;19651491;20035050;20092789;20100010;20221423;20237496;20306696;20503287;20497254;21048031;20049450;21388427;21535078;20497195;20618609;21867635;22437823;22759804;21661365;21518502;21881043;22359105;21960590;21674762;22173634;21931672;22084442;20301617;17360532;23216954;21685908;23179144;23377437;17213580;22425625;22395607;22768097;22829880;23160464 5551 P14222 AB209604;ABBA01019631;AK312754;AL355344;AMYH01002812;BC047695;BC063043;BQ051559;BQ654088;CH471083;DA816891;DA941244;FJ555237;L40557;M28393;M31951;NG_009615;NM_001083116;NM_005041;X13224 AAA60065;AAA60167;AAA63618;AAH47695;AAH63043;ACU25794;BAD92841;BAG35621;CAA31612;EAW54407;NP_001076585;NP_005032;P14222 Hs.2200 1667954;5021602;5038545 G29802;RH78918;STS-L40557 FLH2;HPLH2;MGC65093;P1;PFN1;PFP OTTHUMP00000019759;cytolysin;lymphocyte pore forming protein;lymphocyte pore-forming protein;perforin-1 APPROVED protein-coding ENSG00000180644 9360 01362 170280;603553;605027 REVIEWED 6481074 PRICKLE2-AS2 PRICKLE2 antisense RNA 2 3 64089146 64092034 + 100874242 ABBA01024311;AC092040;AI419805;AMYH01013248;BX110661;NR_046701 Hs.668874 APPROVED miscrna 40917 VALIDATED 1343411 PRH1 proline-rich protein HaeIII subfamily 1 12 12 12 p13.2 16181881 16466619 - 10924827 11215477 - 11033560 11036874 - 1580863;6480464 18037651;12477932;3009472;2993301;803013;17207965;20379614;22190937 5554 P02810 ABBA01067808;AC006518;AC018630;AC134349;AMYH01004281;BC031043;BC064553;BC128192;BC133676;BI772091;BM476484;BU543118;CH471094;K03203;M13057;NM_006250 AAA60184;AAA98807;AAI28193;AAI33677;ADQ32609;EAW96214;EAW96215;EAW96216;EAW96217;NP_006241 Hs.656965 1644652;1652619;1653074;1656276;1670804;1682247;1688666;1699744;1704224;1725899;1725929;1726083;1733222;1733612;1736192;1771287;2106687;2115363;2117195;2122241;2123322;2123514;2127023;2129410;2170018;2183380;2218814;2218816;2218818 D12S1123;D12S1137E;D12S1409;D12S841;D12S936;G41794;G62224;G62236;G62373;RH103478;RH41834;RH46058;RH68584;RH78796;RH79615;RH92305;SGC33675;SHGC-35333;SHGC-35334;SHGC-35693;SHGC-83138;STS-M13057;TAS2R14__5197;TAS2R44__5206;TAS2R49__5209;TAS2R50__5211;WI-11709;WI-17064;WI-21551 MGC74956;Pa proline-rich protein HaeIII subfamily 1 protein-coding ENSG00000231887 9366 01349 168730 VALIDATED 6770069 PRICKLE2-AS1 PRICKLE2 antisense RNA 1 3 64053640 64088807 + 19303062 100652759 ABBA01024311;ABBA01024312;AC092040;AL832189;AMYH01013248;NR_045697 Hs.731187 1680517 RH92155 APPROVED miscrna ENSG00000241111 40916 VALIDATED 737332 PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 q12 56911410 56914706 - 57154834 57158130 - 1580863;6480464;6907045 1565101;8547309;19398958;19039208;19014520;18852884;17223728;17136616;17082653;16940047;15647258;15489334;14988014;14500673;12534990;12477932;12421832;12393403;12370176;12202480;12176337;12149249;11546794;11445557;11319227;11278835;11222751;11170744;10913121;10698680;10491647;10357815;9748166;9736715;8507662;8137941;7727786;7685339;7539791;7531438;7526035;7524900;7508748;3422083;3410852;3199069;3171483;2584934;2501794;2323577;16169070;20977431;20849415;19626619;20237496;18476621;18720885;23033876;18029348;21139048;21906983;22412388;17308074 5553 A6XMW0;P13727 ABBA01021470;AK312195;AMYH01003652;AP000781;BC005929;BQ445845;BX395670;CR450311;DQ846874;HC007226;M34462;M35670;M36805;NM_001243245;NM_002728;X14088;X65787;Y00809;Z26248 AAA35796;AAA35965;AAA36203;AAH05929;ABI63361;ABM84106;ABM87481;BAG35128;CAA32250;CAA46670;CAA68751;CAA81207;CAG29307;CBH19418;NP_001230174;NP_002719;P13727 Hs.512633 1672099;1737849;1846729 A005W41;D11S3454;D11S4608 BMPG;MBP;MBP1;MGC14537 OTTHUMP00000234774;OTTHUMP00000234775;OTTHUMP00000234776;bone marrow proteoglycan;bone-marrow proteoglycan;eosinophil granule major basic protein;eosinophil major basic protein;natural killer cell activator;proteoglycan 2 preproprotein;proteoglycan 2, bone marrow APPROVED protein-coding 9362 09283 605601 REVIEWED 6481076 PRICKLE2-AS3 PRICKLE2 antisense RNA 3 3 64173220 64187237 + 14702039;23382691 100874243 ABBA01024311;AC092040;AK056491;AMYH01013248;NR_046702 Hs.670840 1726733;5015619;5016478;5022200;5022651;5024039;5037552;5109281 D11S2921;D11S3114;D16S325;D1S1425;D8S2279;G62754;GDB:434012;L18426 APPROVED miscrna ENSG00000226017 40918 VALIDATED 1346350 PRH2 proline-rich protein HaeIII subfamily 2 12 12 p13.2 10973101 10977668 + 11081834 11087444 + 1580863;6480464 16203048;2993301;15693058;15489334;12477932;10858503;10627138;7390979;7380845;7228490;4053693;3710693;3687941;3196309;3009472;438215 5555 P02810;Q68D45 ABBA01067808;AC006518;AMYH01004281;BC095488;BC136499;BC141916;BX538206;BX538207;BX641094;BX647085;BX647155;BX647156;BX648436;BX648656;BX648871;BX648901;CH471094;CR749583;K03202;M13058;NM_001110213;NM_005042 AAA60183;AAA98808;AAH95488;AAI36500;AAI41917;CAE46044;CAH18378;EAW96219;EAW96220;EAW96221;NP_001103683;NP_005033;P02810 Hs.408153 1699744;2123514 RH103478;SHGC-35333 DKFZp686B01256;DKFZp686F14256;DKFZp686I11251;DKFZp686J06255;DKFZp686L01253;DKFZp686L16244;DKFZp686M04243;DKFZp686N24248;PIF-S;PRH1;PRP-1/PRP-2;Pr;db-s;pa;pr1/Pr2 OTTHUMP00000239038;OTTHUMP00000239039;PIF-S;PRP-1/PRP-2;acidic salivary proline-rich protein, HaeIII type, 2;db-s;pa;parotid acidic protein;parotid double-band protein;parotid isoelectric focusing variant protein;parotid proline-rich protein 1/2;pr1/Pr2;protein C;salivary acidic proline-rich phosphoprotein 1/2 protein-coding 9367 01350 168790 VALIDATED 1315672 PRIMA1 proline rich membrane anchor 1 The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008] 14 14 14 q32.12 74238652 74308549 - 93254397 93324519 - 94184644 94254766 - 1580863;6480464 16489065;16429581;11804574;8889548;14622217;19368807;20147288;20471375;22750213;22754043 145270 Q86XR5 ABBA01030428;ABBA01030429;AL132642;AL157858;AMYH01005967;AMYH01005968;AY225516;AY225517;BU726715;CH471061;NG_009069;NM_178013 AAI56511;AAI72508;AAO74853;AAO74854;EAW81532;EAW81533;EAW81534;NP_821092;Q86XR5 Hs.432401 1760895;1777532;1783016;2126022;2219558 G09284;PRIMA1__5578;SHGC-112367;SHGC-144590;SHGC-52824 PRIMA OTTHUMP00000180666;OTTHUMP00000233440;acetylcholinesterase membrane anchor precursor PRiMA;proline-rich membrane anchor 1 APPROVED protein-coding ENSG00000175785 18319 17907 613851 REVIEWED 2293806 PRINS psoriasis associated non-protein coding RNA induced by stress 10 10 p12.1 24226585 24236918 + 24536051 24544975 + 15855153;14702039;20377629;21750967 100169750 AC063961;AK022045;NR_023388 Hs.731140 5015619;5037552 D11S3114;D8S2279 NCRNA00074 APPROVED miscrna 34235 1346789 PRICKLE1 prickle homolog 1 (Drosophila) This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009] 12 12 q12 41139341 41269745 - 42852140 42983572 - 1580863;2293492;6480464;6907045;7240710 17226800 14645515;19252133;18976727;17709376;17411337;17030191;16764822;16344560;15489334;15146197;14702039;12941693;12525887;12477932;15009665;16417580;18922795;19379695;19834535;20445134;20301774;20842693;21276947;22589738;23000965;22037766;21901791 144165 B3KVG3;B3KVG6;F8VUG8;F8W1J1;F8W1Q8;Q96MT3 ABBA01031406;ABBA01031407;ABBA01031408;ABBA01031409;ABBA01031410;AC079600;AC079601;AF399844;AF543759;AF543760;AK056189;AK056499;AK122877;AK122881;AMYH01004406;AMYH01004407;BC042722;BC114939;BC114940;BE858932;CH471111;CN390789;DA321918;DA413584;NG_012965;NM_001144881;NM_001144882;NM_001144883;NM_153026 AAI14940;AAI14941;AAQ03035;AAQ11824;AAQ11825;BAB71116;BAB71198;BAG53775;BAG53778;EAW57854;EAW57855;NP_001138353;NP_001138354;NP_001138355;NP_694571;Q96MT3 Hs.524348;Hs.720221 1652093;1673564;1713337;1778844;2106573;2111326;2120909;2142719;2174853;2177121;5022651;5022697 D11S2921;D12S1130E;D12S1781;PRICKLE1;PRICKLE1__5577;RH120662;RH45246;RH65600;RH78229;STS-AA010491;STS-N30055;WI-15796 EPM1B;FLJ31627;FLJ31937;MGC138902;MGC138903;RILP OTTHUMP00000241122;OTTHUMP00000241123;OTTHUMP00000241124;OTTHUMP00000241125;REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein;REST/NRSF-interacting LIM domain protein 1;prickle-like 1;prickle-like protein 1 APPROVED protein-coding ENSG00000139174 17019 16341 608500;612437 REVIEWED 1315504 PRICKLE2 prickle homolog 2 (Drosophila) This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011] 3 3 3 p14.1 64096295 64227889 - 64054587 64186171 - 64079526 64211131 - 1580863;6480464;6907045 11256614;17411337;16381901;15489336;15489334;14702039;12525887;12477932;11230166;11076863;19303062;21832049;23000965;22037766;21139048;23382691 166336 C9JY03;H3BNU0;H3BRB9;Q7Z3G6 ABBA01024311;AC092040;AC136275;AK055479;AK093899;AK127113;AK127839;AL833539;AMYH01013248;BC040867;BC119002;BX537915;BX647797;BX649125;CH471055;CR936678;NG_031930;NM_198859 AAI19003;CAD97898;CAL37665;CAL38278;EAW65428;EAW65429;NP_942559;Q7Z3G6 Hs.148105 1341302;1651976;1680517;1714649;1726733;1758891;1857207;2119341;2119417;2127031;2182699;7186390 D3S1287;D3S2854E;D3S4182;G62754;RH119989;RH16200;RH68795;RH92155;SGC34756;SHGC-153051;SHGC-35214 DKFZp686D143;DKFZp686H1748;DKFZp686M031;EPM5 OTTHUMP00000213482;prickle-like 2;prickle-like protein 2 APPROVED protein-coding ENSG00000163637 20340 16342 608501;613832 REVIEWED 1350042 PRICKLE3 prickle homolog 3 (Drosophila) LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008] X X X p11.23 52621593 52632463 + 48918850 48929720 - 49031906 49042776 - 1580863;6480464 17474147;17081983;15489334;15302935;12477932;9344658;20211142;20360068;21890473;21906983 4007 A6ND81;B7Z8F2;C9JYV3;F5GWQ1;F5H4N2;H0Y413;H7BZP7;O43900 ABBA01046131;ABBA01046132;ABBA01046133;AC232271;AF196779;AJ011654;AK299407;AK300866;AK303200;AK303308;AK314788;AMYH01022293;AMYH01022294;BC002468;BC016856;BT007423;CH471224;CR457211;NG_017135;NM_006150;U93305 AAB92357;AAH02468;AAH16856;AAP36091;ABM82400;ABM85588;BAG37320;BAH13026;BAH13360;BAH13918;BAH13938;CAA09726;CAG33492;EAW50686;EAW50687;EAW50688;NP_006141;O43900 Hs.732712 1341375;2142085 D1S2714;DXS9785 LMO6 LIM domain only protein 6;LMO-6;OTTHUMP00000025827;OTTHUMP00000025829;OTTHUMP00000025830;prickle-like protein 3;triple LIM domain protein 6 APPROVED protein-coding ENSG00000012211 6645 02120 300111 REVIEWED 1347495 PRICKLE4 prickle homolog 4 (Drosophila) C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008] 6 6 6 p21.31 43301829 43308440 + 41856478 41865611 + 41748500 41755110 + 16344560;16341674;15702247;15489334;14702039;14574404;12477932;7923143;20877624 29964 F8WDY8;G8JLD6;Q2TBC4 ABBA01050747;AL365205;AMYH01016298;BC110458;BC110459;CH471081;DA875485;DA917216;DA957684;NM_013397 AAI10460;EAX04061;EAX04062;EAX04063;EAX04064;NP_037529;Q2TBC4 Hs.715653 1803242;1804428;1804538;1814456;1828122;1828744;1831916;1840098;1841662;1845884;1980038;1980040;1980042;1980044;1980046;1980048;1980050;1980052;1980054;1980056;1980058;1980060;1980062;1980064;1980066;1980068;1980070;1980072;1980074;1980076;1980078;1980080;1980082;1980084;1980086;1980088;1980090;1980092;1980094;1980096;1980098;1980100;1980102;1980104;1980106;1980108;1980110;1980112;1980114;2216262;2216264;2216266;2216268 ECD02514;ECD03138;ECD03198;ECD08257;ECD15184;ECD15499;ECD17096;ECD21233;ECD22028;ECD24161;REN60910;REN60911;REN60912;REN60913;REN60914;REN60915;REN60916;REN60917;REN60918;REN60919;REN60920;REN60921;REN60922;REN60923;REN60924;REN60925;REN60926;REN60927;REN60928;REN60929;REN60930;REN60931;REN60932;REN60933;REN60934;REN60935;REN60936;REN60937;REN60938;REN60939;REN60940;REN60941;REN60942;REN60943;REN60944;REN60945;REN60946;REN60947;REN60948;stSG635013;stSG635014;stSG635015;stSG635016 C6orf49;MGC120398;OBTP;OEBT;TOMM6 OTTHUMP00000174832;OTTHUMP00000190846;OTTHUMP00000199588;over-expressed breast tumor protein;overexpressed breast tumor protein;prickle-like protein 4;translocase of outer mitochondrial membrane 6 homolog APPROVED protein-coding ENSG00000124593 16805 12884 611389 VALIDATED 1348091 PRIM1 primase, DNA, polypeptide 1 (49kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008] 12 12 q13 55411631 55432413 - 57125364 57146146 - 1580863;6480464;6907045 8026492;6693436;9822671;11473323;15489334;12477932;11917009;10504261;10441007;9705292;9268648;8530050;8125298;12393188;16169070;19615732;20030400;17035231;22990118;22939629;21963094;22678362;23000965;21139048;21890473;21906983;22267201;21145461;22593576;22505724 5557 F8VNY2;F8VSB2;H0YIP2;P49642 AA761682;ABBA01008435;ABBA01008436;AC117378;AK223391;AK314866;AMYH01004508;BC005266;BU167590;CD686660;NM_000946;U89689;X74330 AAC51726;AAH05266;ABW03563;ABW03872;BAD97111;BAG37381;CAA52377;NP_000937;P49642 Hs.534339 2180718 RH70897 MGC12308;p49 DNA primase 1;DNA primase 49 kDa subunit;DNA primase small subunit;DNA primase subunit 48;OTTHUMP00000242661;OTTHUMP00000242832;primase p49 subunit;primase polypeptide 1, 49kDa;primase, polypeptide 1, 49kda APPROVED protein-coding ENSG00000198056 9369 08899 176635 REVIEWED 1353751 PRIM2 primase, DNA, polypeptide 2 (58kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the large, 58 kDa primase subunit. [provided by RefSeq, Jul 2008] 6 6 p12-p11.1 57290381 57621335 + 57182415 57512702 + 1580863;6480464;6907045 8026492;6693436;9822671;11473323;17893144;15592455;15489334;14574404;12477932;12220650;10504261;9705292;9563011;8530050;8125298;20643958;19615732;20379614;22593576;22939629;22863883;21346410;19322201;19471022;20675616;21139048;21890473;21906983;21987572;22437878 5558 P49643 ABBA01050475;ABBA01050476;ABBA01050477;ABBA01050478;ABBA01050479;ABBA01050480;ABBA01050481;ABBA01066577;ABBA01066578;ABBA01066579;ABBA01066580;ABBA01066581;AK223287;AK291915;AL121975;AL137184;BC017833;BC064931;CH471081;NM_000947;X74331 AAH17833;AAH64931;ABZ92530;BAF84604;CAA52378;EAX04480;EAX04481;EAX04482;EAX04483;NP_000938;P49643 Hs.654580 1681714;1684317;1689720;1693500;1713899;1715795;1716063;2133053;5119187;5123780 D6S1498;D6S2137;RH119346;RH119380;RH120995;RH46723;RH65310;RH70898;SHGC-31574;SHGC-58337 MGC75142;PRIM2A;p58 DNA primase 58 kDa subunit;DNA primase large subunit;DNA primase subunit p58;OTTHUMP00000017818;dJ422B11.1.1;polypeptide 2A, p58;primase polypeptide 2A, 58kDa;primase, polypeptide 2A (58kD);primase, polypeptide 2a, 58kda APPROVED protein-coding 9370 08900 176636 REVIEWED 730888 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008] 1 1 p31 56883578 56953596 + 57110990 57181008 + 1580863;1625266;1600678;1600679;1302556;1300048;6480464;6484113;6907045 16567511;15509864;12829246;12511592 18674809;7959015;16054041;15060529;10698692;19470831;19434633;19170765;18996102;18974883;18801964;18614941;18195011;17950019;17179156;16984726;16801347;16710414;16670154;16598851;16518831;16505254;16483872;16344560;16275868;16054096;16054095;15640157;15572372;15489334;15371448;15297373;15231718;15058305;14985505;14985344;14742438;14729328;14709557;14651849;14613924;12941758;12847291;12788940;12663462;12519745;12477932;12456889;12444247;12427743;12413941;12391032;12091379;12067722;11797013;11389854;10760274;10642499;9224708;9148944;8889548;7988703;1536860;1365882;22212710;19913121;20602615;20628086;20682687;20821366;20876741;20217115;20647423;11052978;11171059;11500364;12740371;12853467;1322130;14532170;15024086;16624523;19440859;19502591;19528236;19574280;19720831;19723084;19836452;19948975;20124121;20167927;2900138;11257506;19728147;20558612;20562859;21209024;18439900;21432774;21543851;21825219;21673972;21139048;18029386;22137581;21963094;22897928;22939624;23000302;23293026;22286170;22305490;19616115;22318606;23476055;18836454;19720090;20392842;21344388;21651489;22728651 5563 AAB32732;P54646 ABBA01074678;ABBA01074679;AC099789;AI732856;AK314011;AL035705;AL596521;AL710110;AMYH01000644;AMYH01000645;BC043195;BC069680;BC069740;BC069823;BM979925;CB985850;CF552084;CH471059;DA710012;EF056019;NM_006252;U06454 AAA64745;AAB32732;AAH69680;AAH69740;AAH69823;ABK30810;BAG36722;EAX06650;NP_006243;P54646 Hs.437039 1342337;1695610;1744857;1781496;1796574;1848023;2113688;2141595;2153691;2159951;2183626 D1S2056E;D1S2084;D1S2690;GDB:573976;PRKAA2;PRKAA2_1075;SHGC-141488;SHGC-35382;SHGC-68634;SHGC-74882;SHGC-74886 AMPK;AMPK2;AMPKa2;PRKAA 5'-AMP-activated protein kinase catalytic subunit alpha-2;5'-AMP-activated protein kinase, catalytic alpha-2 chain;ACACA kinase;AMPK subunit alpha-2;AMPK-alpha-2 chain;HMGCR kinase;OTTHUMP00000009993;acetyl-CoA carboxylase kinase;hydroxymethylglutaryl-CoA reductase kinase APPROVED protein-coding ENSG00000162409 9377 02735 600497 VALIDATED 732865 PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 5 5 p12 40795238 40834054 - 40759481 40798297 - 69937;1580863;1600678;1600679;1300048;2316808;6480464;6484544;6484534;6484540;6484539;6484543;6484113;6484545;6484541;6484542;5685669;6907045 8557660;15509864;12829246;20054491;19162361;21768291;19486896;21595935;20421294;22231922;22562547;21548839;20622004 22021095;18403135;11546797;11165240;19491292;19211918;19197243;19138981;19050283;19049348;19020741;18996102;18950855;18801964;18614941;18359290;18347656;18303014;18276112;18195011;17088252;16806233;16466905;16405649;16344560;16054095;15489334;15485651;15024086;14985505;14985344;14976552;14709557;14702039;14557259;12890675;12869384;12853467;12847291;12791703;12788940;12477932;12391032;12368907;12194824;12091379;11997383;11903059;11500364;11171059;11052978;11042152;10862786;10760274;9857077;9845345;9224708;8910387;8626596;2900138;10698692;17028174;15261145;14651849;14970221;11913976;22212710;22688514;20217115;19913121;20602615;20628086;20682687;20821366;19728147;20562859;20876741;20660302;20462511;20167678;11971957;1322130;16054041;17584647;18674809;19442239;19502591;19556893;19723093;19723094;19723101;19723105;19887561;19923924;19948975;19966861;20080969;20103647;20170185;7907095;8094892;8163463;8663446;9091312;9710607;21048031;20368732;22607554;22815988;22988252;20564492;21416543;21232561;21072212;21079763;21209024;21670147;21432774;23022380;22869372;21088205;18439900;21474997;23306156;16306228;21909354;22065577;21775054;20861072;21892142;21807092;22318606;22037551;21139048;21678424;21906983;18781797;21987572;21994947;20368287;21963094;21988832;22897928;22939624;23000302;23324179;22007913;19616115;22434430;22363791;19322201;21728993;22378745;22419736;22553202;22564965;22462548;22674476;22939629;23376776;23463002;23171948;23221389;23228943;23455922;23589839;18836454;18976975;19720090;20392842;20538596;21344388;21651489;22406815;22480519;22935535;18663353;22833096 5562 Q13131;Q96E92 AB022017;ABBA01024223;ABBA01024224;AC008810;AF100763;AK024252;AK307546;AK312947;AMYH01015049;BC012622;BC037303;BC048980;BQ049192;BQ716041;BX494823;CD512588;CH471119;DB236105;NM_006251;NM_206907;U22456;Y12856 AAA64850;AAD43027;AAH12622;AAH37303;AAH48980;ADZ15583;BAA36547;BAG35788;CAA73361;EAW56000;EAW56001;NP_006242;NP_996790;Q13131 Hs.43322 1669290;2178628;2178630;2184497 RH18516;RH71041;SGC34175;STS-N23112 AMPK;AMPKa1;MGC33776;MGC57364 5'-AMP-activated protein kinase catalytic subunit alpha-1;5'-AMP-activated protein kinase, catalytic alpha-1 chain;ACACA kinase;AMP -activate kinase alpha 1 subunit;AMP-activated protein kinase, catalytic, alpha-1;AMPK alpha 1;AMPK subunit alpha-1;HMGCR kinase;OTTHUMP00000161795;OTTHUMP00000161796;acetyl-CoA carboxylase kinase;hydroxymethylglutaryl-CoA reductase kinase;tau-protein kinase PRKAA1 APPROVED protein-coding ENSG00000132356 9376 04115 602739 REVIEWED 1345258 PRKACG protein kinase, cAMP-dependent, catalytic, gamma Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008] 9 9 q13 70817271 70818828 - 71627445 71629039 - 1580863;2312475;6480464;6484113;6907045 14715913 9598317;12626323;12721358;15489334;15313841;15039079;12842892;12477932;12361948;9730685;9671211;9278385;9151826;7946090;7688126;2342480;1978848;1339328;12972513;9540970;10830164;15632203;16407073;19383776;19483721;19711044;2165385;9837753;15629779;18836454;19100722;19895210;20392842;20402410;20433920;21651489;21745501;22114277 5568 P22612 AJ001597;AL162730;AMYH01021383;BC039888;CH471089;DQ667175;NM_002732 AAH39888;ABG25920;ABM81690;ABM84853;CAA04863;EAW62472;NP_002723;P22612 Hs.158029 1658063;2140852 G29882;RH69128 KAPG;PKACg OTTHUMP00000021422;PKA C-gamma;cAMP-dependent protein kinase catalytic subunit gamma;serine(threonine) protein kinase APPROVED protein-coding ENSG00000165059 9382 01483 176893 REVIEWED 735402 PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008] 12 12 q24.1-q24.3 118590144 118603812 + 120105761 120119429 + 69937;1600678;1600679;1580863;6480464;6484113;6907045 8557660;15509864;12829246 22323564;22363791;18403135;9575201;19584313;19477172;19347029;19225536;19211918;19112161;19071085;19050047;19037093;18996102;18729810;18715874;18617528;18614968;18551130;18449856;18436530;18328803;18258605;18250161;18247380;18184930;18079111;18029348;18006825;18006475;17849173;17711846;17669398;17513605;17459875;17353931;17097050;17054914;17028174;17012231;16953221;16949049;16880506;16873412;16624523;16600998;16541075;16516166;16505254;16405649;15896711;15886229;15769985;15694368;15489334;15289653;15122253;15058305;15028725;14985505;14985344;14742438;14729328;14702039;14651849;14615481;12958172;12477932;10760274;10698692;9305909;9224708;8663446;8626596;8621499;16169070;18184747;22001850;22435535;20534540;19913121;20628086;20682687;20334581;21334384;20177150;20668229;20083895;20534808;20810907;20562859;16054041;18439900;18624398;19592618;19654324;19723334;19843515;19844168;19896469;19911004;19948975;19958286;19963029;20018878;20019839;20103737;20107043;20231899;21042744;20957377;21072212;20797423;21670147;16306228;21907923;21832049;22939629;21088205;21271224;20190568;21573174;21619869;21570709;21460634;21554950;21900206;22029423;21859551;21873433;21892142;20196784;21988832;22897928;21139048;21824431;21890473;22105511;21232561;22318606;18836454;19720090;20392842;20538596;21344388;21651489;22505724 5564 F5H2X8;F5H4Y8;F5H610;Q9Y478 ABBA01020076;AC002563;AF022116;AJ224515;AK127820;AK301165;AK312495;AMYH01004792;BC001007;BC001056;BC001823;BC017671;BC018818;BU539177;BX537486;CH471054;NM_006253;U83994;U87276;Y12556 AAB71326;AAC98897;AAD00625;AAD09237;AAH01007;AAH01056;AAH01823;AAH17671;BAG35397;BAG62754;CAA12024;CAA73146;EAW98151;EAW98152;EAW98153;EAW98154;NP_006244;Q9Y478 Hs.741184 1651327;1660603;1678381;1694984;1707002;1770652;1770654;2117522;5022200 A001W18;G19710;G44705;L18426;RH48906;RH98832;SHGC-81002;WI-13962;WI-19637 AMPK;HAMPKb;MGC17785 5'-AMP-activated protein kinase beta-1 subunit;5'-AMP-activated protein kinase subunit beta-1;AMP-activated protein kinase beta subunit;AMPK beta -1 chain;AMPK beta 1;AMPK subunit beta-1;AMPKb;OTTHUMP00000239813;OTTHUMP00000239814;protein kinase, AMP-activated, noncatalytic, beta-1 APPROVED protein-coding ENSG00000111725 9378 04116 602740 REVIEWED 1344608 PRKACA protein kinase, cAMP-dependent, catalytic, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 p13.1 14063500 14089559 - 14202500 14228559 - 1580713;1580714;1580675;1580730;1580863;2312475;6480464;6484113;6907045 16302972;10830164;15546918;12469130;14715913 14724137;14709557;14702039;14701748;14641008;14636580;14597563;14576165;14532276;14500710;12954600;12950172;12947093;12938160;12931191;12927815;12917345;12853467;12851456;12842892;12819195;12773393;12697024;12654918;12639913;12630910;12578970;12574812;12569367;12538592;12534294;12529267;12509440;12477932;12475942;12459461;12441002;12435421;12417592;12399457;12392720;12387894;12369791;12237306;12213813;12196520;12175859;12167624;12154078;12147701;12089143;2843813;15630084;17353931;11035810;12626323;12721358;19383776;19368997;19264843;19210988;19018281;18953413;18728186;18660489;18505929;18490653;18451148;18451138;18421013;18338250;18215420;18178622;18064650;17975022;17959673;17909264;17908236;17895245;17895239;17884635;17693412;17646929;17594903;17581860;17565987;17553808;17545677;17333334;17317104;17296605;17192257;17151273;17081983;17068197;17053039;17043752;17008315;16966355;16920702;16793902;16751804;16642035;16621795;16601239;16476742;16301320;16179339;16166624;15975931;15914039;15905176;15843433;15703181;15655353;15642694;15489334;15371306;15345747;15212956;15024086;15016832;14997482;14981079;12054501;11997508;11997388;11986331;11971957;11953308;11903055;11895474;11884598;11853558;11834733;11805122;11799117;11751901;11749387;11744745;11696326;11694504;11604405;11551945;11533025;11510412;11500364;11443111;11438671;11416140;11359875;11336675;11331285;11311121;11297520;11283605;11279195;11278469;11181841;11181701;11181181;11171059;11158305;11158204;11104762;11050185;11039908;11029056;22363678;9199504;9155020;9151826;9150141;9126608;9115213;9109552;9099667;9091312;9050991;9030586;9029147;8999860;8939981;8884279;8816779;8810272;8664319;8663994;8663227;8626720;8626492;8612821;8521865;8506364;8404858;8395513;8390988;8380342;8376365;8248197;8226875;8182057;8163498;8132598;8117614;8058338;8027074;8002936;7946090;7929424;7905001;7876254;7822264;7759492;7706316;7688126;7615546;7566346;7525582;7520867;6262777;4092695;3759968;2874140;2833520;2722853;2548572;2504723;2500966;2413024;2394752;2369897;2176601;2155236;2117608;2114109;2108025;1978848;1706595;1545828;1406653;1377674;1375933;1375229;1322130;1281154;221492;33381;12972513;9540970;15629779;18836454;18291109;10187789;11546661;11799244;9213219;12595241;15047863;15213298;15147202;15797222;9060639;11027313;10982398;10969067;10949026;10922374;10906071;10898738;10880354;10874031;10851246;10841548;10837486;10837251;10753751;10739259;10737616;10728420;10698939;10667577;10653665;10604473;10601328;10576742;10571231;10559944;10454575;10446213;10400690;10366608;10228048;10090741;10051666;9891036;9867809;9832145;9771888;9735171;9730685;9724719;9722526;9710607;9679146;9677319;9671211;9660950;9565682;9546672;9525956;9468536;9417067;9407077;9405392;9374536;9366517;9353289;9341190;9278385;9247274;20356841;21514275;21357689;21367856;8647104;22452847;22504716;22609331;22669896;10734119;10581150;20849292;20484458;19949837;20732331;20664056;20716686;20501673;20936779;15632203;10441130;10567342;11076968;11166179;12221128;12852856;15569306;16407073;16462731;1684878;17088250;17220478;19403523;19483721;19573263;19615732;19618297;19647741;19667072;19711044;19755416;19789307;19808666;19920112;19923321;19965870;20045463;20159975;2165385;7790358;9016641;20209159;21098703;21075212;21085490;10805756;21559296;11327722;15934135;18299387;9837753;9030777;21209912;21461565;21536683;15383279;15557340;15896703;21127069;22863883;22939629;11278415;23455922;23504319;19692500;20974683;22360420;21957496;22272352;21812984;12082111;21139048;21835884;21906983;22132070;17272822;17437719;22384111;22433860;22750392;22561749;15178447;20133937;21145461;22553202;22728165;12574161;12628924;16251902;21890473;21963094;22340593;22792062;23074279;23256157;10970852;20110267;22926037;23245330;23341462;19100722;19895210;20392842;20402410;20433920;21651489;21745501;22114277;9639573;22479536;22908311 5566 K7EMV1;K7ENJ5;K7ERP6;P17612;Q15136 ABBA01029689;ABBA01029690;AC022098;AF208004;AF224718;AF239744;AK093803;AK131561;AK290147;AK292284;AMYH01009520;BC039846;BC108259;BU543573;CH471106;DQ667173;M80335;NG_029699;NM_002730;NM_207518;X07767 AAA60094;AAF75622;AAF76426;AAG35720;AAH39846;AAI08260;ABG25918;BAF82836;BAF84973;CAA30597;EAW84397;EAW84398;EAW84399;EAW84400;NP_002721;NP_997401;P17612 Hs.631630 1658265;1682215;1798016;1854453;2144790;2148900;2181589 D1S3205;PRKACA__2119;RH47780;RH65125;RH69574;STS-N57750;WI-14108 MGC102831;MGC48865;PKACA PKA C-alpha;cAMP-dependent protein kinase catalytic subunit alpha;cAMP-dependent protein kinase catalytic subunit alpha, isoform 1;protein kinase A catalytic subunit APPROVED protein-coding ENSG00000072062 9380 03382 601639 REVIEWED 735943 PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] 1 1 q21.1 145093309 145110753 - 146626685 146644129 - 69937;1600678;1600679;1580863;6480464;6907045 8557660;15509864;12829246 16712791;17353931;16054041;9575201;15060529;10698692;16710414;16505254;16344560;15489334;15058305;14702039;12490143;12477932;12433937;11752456;9224708;8889548;8626596;8621499;20628086;20682687;19913121;20562859;11257506;16341674;20534808;14651849;18996102;19836452;19948975;17851531;16306228;21988832;22897928;18029386;21139048;22305490;19616115;23455922;18836454;19720090;20392842;21344388;21651489;22505724;22935535 5565 B4DH06;O43741 ABBA01004398;AC241584;AF504543;AI026131;AI638769;AJ224538;AK023717;AK292820;AK294863;AK304069;AK310982;AK316005;AK316183;AL037763;AL356378;AMYH01001373;AU118301;AV646012;AV660341;BC053610;BM563523;BM724633;BM769516;BU166852;BU619639;BX478507;CA311731;CB111633;CH471223;DA698245;NM_005399;NR_103870;NR_103871 AAH53610;AAM74153;ADR82700;BAF85509;BAG57967;BAG64976;BAH14376;BAH14554;CAA12030;CAH72644;EAW50945;NP_005390;O43741 Hs.50732 1672577;1798014;1847895;1852367;2123905;2156535;2185423 A006T33;D1S3545;G16292;PRKAB2_2222;RH64681;RH66499;WI-22653 MGC61468 5'-AMP-activated protein kinase subunit beta-2;5'-AMP-activated protein kinase, beta-2 subunit;AMPK beta 2;AMPK beta-2 chain;AMPK subunit beta-2;OTTHUMP00000015910 APPROVED protein-coding ENSG00000131791 9379 04117 602741 REVIEWED 1345941 PRKAR1AP protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene 1 1 p22.1 90837151 90840103 + 92590712 92593670 + 8468054 5574 ABBA01045554;AC104836;AMYH01000794;L20252;NG_003073 1773267;1848017 G15734;SHGC-75148 pseudo 9389 INFERRED 1321558 PRKACB protein kinase, cAMP-dependent, catalytic, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Several alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jun 2011] 1 1 p31.1 84316333 84476769 + 84543745 84704181 + 1580731;2312475;6480464;6484113;6907045 8548807;14715913 22939629;12626323;12721358;2342480;18499756;17594903;17549442;16949795;16889664;16710414;16381901;15723830;15489336;15489334;14744463;14702039;12842892;12798691;12682012;12477932;11589697;11172053;11076863;9730685;9671211;9636365;9278385;9151826;8662989;7946090;7688126;7684369;1978848;1551670;12972513;9540970;10830164;12420224;20033853;15632203;20564261;16407073;19383776;19483721;19573263;19711044;19965870;20086095;20093341;20379146;2165385;9837753;22863883;22318606;21139048;21890473;21906983;22779921;15629779;18836454;19100722;19895210;20392842;20402410;20433920;21651489;21745501;22114277;21963094;21988832;22113938;22939624;23001122 5567 B1APF6;B1APF7;B1APF8;B1APF9;B1APG0;B1APG1;B1APG2;B1APG3;B2RB89;B7ZA00;Q96B09 AA761973;AB209189;AB451239;AB451364;ABBA01045658;AF538872;AI445551;AK074904;AK091420;AK296482;AK304322;AK304375;AK314550;AK316115;AL359504;AL450063;AMYH01000752;AY927364;AY927366;AY927367;AY927368;BC016285;BC035058;BX369882;BX485407;BX537705;BX641026;BX647515;CH471097;CR936631;DQ667174;M34181;NG_029728;NM_001242857;NM_001242858;NM_001242859;NM_001242860;NM_001242861;NM_001242862;NM_002731;NM_182948;NM_207578 AAA60170;AAH16285;AAH35058;AAN16454;AAX19487;AAX19489;AAX19490;AAX19491;ABG25919;ACE87794;ACE87846;ACE87848;ACE87853;ACT64365;ACT64367;ACT64382;ACT64538;BAD92426;BAG37136;BAG52356;BAG59122;BAG65172;BAG65213;BAG70053;BAG70178;BAH14486;CAD97818;CAE46017;CAI56774;CAL37404;CAL38111;CAL38195;CAL38374;EAW73247;EAW73248;EAW73249;NP_001229786;NP_001229787;NP_001229788;NP_001229789;NP_001229790;NP_001229791;NP_002722;NP_891993;NP_997461;P22694 Hs.487325 1656791;1666898;1688448;1693196;1693200;1739753;1745771;1751711;1768965;2115493;2128782;2143833;2160016;5015861;5037552;7185938 AL033549;AL033552;D10S16;D1S2252;D1S2503E;D8S2279;G15918;G31499;GDB:636113;RH69127;RH80405;SGC44473;SHGC-105735;SHGC-30370;SHGC-75073 DKFZp781I2452;MGC41879;MGC9320;PKACB OTTHUMP00000011663;OTTHUMP00000011664;OTTHUMP00000011665;OTTHUMP00000011666;OTTHUMP00000011667;OTTHUMP00000011668;OTTHUMP00000011669;OTTHUMP00000011670;OTTHUMP00000011671;OTTHUMP00000011672;OTTHUMP00000011673;OTTHUMP00000011674;PKA C-beta;cAMP-dependent protein kinase catalytic beta subunit isoform 4ab;cAMP-dependent protein kinase catalytic subunit beta;protein kinase A catalytic subunit beta APPROVED protein-coding ENSG00000142875 9381 01482 176892 REVIEWED 6770814 PRKAG2-AS1 PRKAG2 antisense RNA 1 7 151574127 151576308 + 12477932 100505483 ABBA01035143;AC074257;AC093583;AMYH01018147;BC031308;BC131560;CA419137;NR_038926 Hs.649054 1678687;1686905 RH79622;RH94262 APPROVED miscrna 40468 VALIDATED 5144653 PRKAR2A-AS1 PRKAR2A antisense RNA 1 3 3 48841606 48845653 + 48885370 48889414 + 100506637 ABBA01024629;AC134028;AC144546;AMYH01013153;XR_110001;XR_112462;XR_171381 Hs.634259 APPROVED miscrna ENSG00000224424 40471 MODEL 1318621 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008] 2 2 q35 219395350 219404756 - 219687106 219696512 - 1600678;1600679;1580863;6480464;6907045 15509864;12829246 10698692;17701023;17518971;16306365;15489334;14970697;14559719;14503854;12477932;12391032;10818001;8626596;20682687;20821366;16054041;17878938;18439900;18996102;19574280;19836452;19948975;14651849;20473479;15203218;20800603;19616115;19720090;21344388 53632 B4DT70;B4DUK8;C9JIC7;Q9UGI9 AA256383;ABBA01023857;AC009974;AF214519;AJ249977;AK300078;AK300687;AK309865;AMYH01011497;BC098102;BC098255;BC098277;BC098306;CD628195;CH471063;NG_016458;NM_017431;W94830 AAF73987;AAH98102;AAH98255;AAH98277;AAH98306;BAG61882;BAG62370;CAB65117;EAW70656;EAW70657;NP_059127;Q9UGI9 Hs.591634 1847753;2217846;5015273 G67375;PRKAG3_3832;SHGC-52801 AMPKG3 5'-AMP-activated protein kinase subunit gamma-3;5'-AMP-activated protein kinase, gamma-3 subunit;AMPK gamma-3 chain;AMPK gamma3;AMPK subunit gamma-3;OTTHUMP00000164095;OTTHUMP00000206393;OTTHUMP00000230855 APPROVED protein-coding ENSG00000115592 9387 16085 604976 REVIEWED 734389 PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 12 12 q12-q14 47682322 47698859 - 49396055 49412629 - 1600678;1600679;6480464;6484113;6907045 15509864;12829246 9598317;8663446;18403135;10698692;2342480;19211918;19052260;18996102;18079111;15489334;15058305;14702039;12477932;11445078;9730685;9671211;9278385;9224708;9151826;8889548;8626596;8621499;8557660;7946090;7688126;1978848;17028174;19913121;20602615;20628086;20682687;20821366;16344560;16712791;20562859;14651849;16054041;18439900;19615732;19948975;20800603;21072212;23383273;21666788;16306228;21670147;21892142;19616115;22318606;21963094;21988832;22897928;23000965;21139048;21890473;21906983;21987572;22456184;22363791;21232561;18836454;19720090;20392842;20402410;21344388;21651489;22935535 5571 F8VPF5;F8VQQ1;F8VRY2;F8VSH3;F8VSL2;F8VVA3;F8VYY9;F8VYZ8;F8VZX1;F8W046;F8W9D1;H0YHF8;H0YIC9;P54619 ABBA01031498;AC011603;AK097606;AK293332;AK303276;AK307994;AK310250;AMYH01004437;BC000358;BG772337;BG772412;BI757340;BM667691;BM972308;BT007345;CB124830;CH471111;DB020277;NM_001206709;NM_001206710;NM_002733 AAH00358;AAP36009;BAC05117;BAG56848;BAG64356;EAW58032;EAW58033;NP_001193638;NP_001193639;NP_002724;P54619 Hs.530862 1648479;1667135;1669575;2217844;5017605 PRKAG1;PRKAG1_3169;RH11260;SHGC-33837;WI-19311 AMPKG;MGC8666 5'-AMP-activated protein kinase subunit gamma-1;5'-AMP-activated protein kinase, gamma-1 subunit;AMPK gamma-1 chain;AMPK gamma1;AMPK subunit gamma-1;OTTHUMP00000243707;OTTHUMP00000243708;OTTHUMP00000243709;OTTHUMP00000243712;OTTHUMP00000243713;OTTHUMP00000243714;OTTHUMP00000243716 APPROVED protein-coding ENSG00000181929 9385 04118 602742 REVIEWED 1351287 PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta Cyclic AMP-dependent protein kinase A (PKA) is an essential enzyme in the signaling pathway of the second messenger cAMP. Through phosphorylation of target proteins, PKA controls many biochemical events in the cell including regulation of metabolism, ion transport, and gene transcription. The PKA holoenzyme is composed of 2 regulatory and 2 catalytic subunits and dissociates from the regulatory subunits upon binding of cAMP.[supplied by OMIM, Jun 2009] 7 7 p22 555913 718659 - 588834 767313 - 619653;1580863;2312475;6480464;6907045 11161799;14715913 1708242;12626323;16777052;14966294;12634056;12477932;12373096;12067711;12052877;11943777;10228048;9730685;9671211;9278385;9151826;8407966;7946090;7925653;7688126;3479018;1978848;1358799;17168834;21145461;20588308;20029029;20936779;16344560;16407073;20379146;2165385;22863883;21890473;21906983;21963094;15629779;18836454;19895210;20392842;20402410;21651489;22505724 5575 C9IZL8;C9J4C2;C9JR00;C9JSK5;H7BYW5;P31321 AACC02000127;AACC02000128;AACC02000129;AACC02000168;AACC02000169;AACC02000170;AACC02000171;ABBA01039293;ABBA01039294;ABBA01039295;ABBA01039296;ABBA01039297;ABBA01039298;ABBA01039299;ABBA01039300;ABBA01039301;ABBA01039302;ABBA01039303;ABBA01039304;AC144411;AC144526;AC147651;AK098822;AK289464;AK297337;AK315951;AK315990;AL833563;AMYH01016938;AMYH01016939;AMYH01016940;AMYH01016941;BC013368;BC026734;BC036828;BC070478;CH236965;CH236966;CH471144;CT003793;DA162030;DA210679;DA501689;DA910871;DC314672;M65066;NM_001164758;NM_001164759;NM_001164760;NM_001164761;NM_001164762;NM_002735 AAC37564;AAH26734;AAH36828;AAH70478;ACE86761;ACE87448;BAF82153;BAG59793;BAH14322;BAH14361;EAW87163;EAW87164;EAW87165;EAW87166;NP_001158230;NP_001158231;NP_001158232;NP_001158233;NP_001158234;NP_002726;P31321 Hs.520851 1648481;1655693;1662129;1725621;1730247;1786236;1790533;2107525;2117232;2166588;2185070 D7S2794;D7S540E;G10106;G62094;GDB:1318080;GDB:4585615;HSC182_(GAP_608_G);PRKAR1B;PRKAR1B__7235;RH48875;SHGC-130833 PRKAR1 OTTHUMP00000199947;OTTHUMP00000199948;OTTHUMP00000199949;OTTHUMP00000199952;cAMP-dependent protein kinase type I-beta regulatory subunit 2316038 GLUCO217_H APPROVED protein-coding ENSG00000188191 9390 01485 176911 VALIDATED 1346463 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 q36.1 150884133 151205249 - 151253200 151574316 - 69937;70620;1580715;1580716;1580717;1580718;1580719;1600678;1600679;1580863;6480464;6907045;7240710 8557660;8621499;16487706;16275868;15877279;15611370;11748095;15509864;12829246 19322201;17255938;10698692;11371514;16054041;11827995;15060529;18029348;18996102;18403758;18195183;18158359;18033003;17990392;17483151;17431505;16806233;16344560;16115789;15766830;15673802;15489334;14702039;14519435;12853948;12716108;12690205;12546691;12477932;12397075;12015471;11445078;11407343;11112354;9847074;9730685;9671211;9278385;9224708;9151826;9208914;7946090;7688126;7657794;1978848;19913121;20602615;20622004;20628086;20682687;20821366;11257506;20562859;17207965;14651849;18439900;19533775;19808419;19862010;19948975;20005292;20022652;20031618;20031621;20379614;20383146;21305692;20561859;23115293;20381067;21409595;22897928;21813245;21906983;20301725;22318606;21963094;21987572;23034890;23222517;23263486;21344388;19720090;20392842 51422 C9JUG1;E9PGP6;F8WAY3;F8WDA1;F8WDB5;G8JLM0;Q9UGJ0 AACC02000108;AB025580;ABBA01035143;ABBA01035144;ABBA01035145;ABBA01035146;ABBA01035147;ABBA01035148;ABBA01035149;ABBA01035150;ABBA01035151;AC006358;AC006966;AC074257;AC093583;AF087875;AI084919;AJ249976;AK001887;AK074675;AK092716;AK301123;AK307798;AK308116;AK314646;AMYH01018145;AMYH01018146;AMYH01018147;BC020540;BC068598;BM988346;BT007127;CH471173;DA084454;DA123009;DA187928;DA697901;NG_007486;NM_001040633;NM_016203;NM_024429 AAF03528;AAH20540;AAH68598;AAK00413;AAP35791;AAS02032;ADQ31995;BAA84695;BAA91962;BAC11129;BAH13414;CAB65116;EAL24516;EAW53983;EAW53984;NP_001035723;NP_057287;NP_077747;Q9UGJ0 Hs.647072 1299920;1339951;1655513;1666460;1668806;1670728;1678687;1686905;1700660;1708756;1724113;1725739;1766005;1779970;1779972;1787682;1849973;1849975;1858204;2114406;2124365;2143303;2184550;2187520;5020948;5037552;7187448 A005S32;A006W27;D7S1854;D7S3070;D7S505;D7S688;D8S2279;G20467;G35510;G62061;GDB:1317758;GDB:1318398;GDB:3754224;GDB:4585559;RH103953;RH119056;RH79622;RH94262;SGC32330;SHGC-149398;SHGC-154217;SHGC-154218;SHGC-156157;SHGC-81601;SHGC-8964;STS-D59484;STS-H64261 AAKG;AAKG2;CMH6;H91620p;WPWS 5'-AMP-activated protein kinase subunit gamma-2;AMPK gamma2;AMPK subunit gamma-2;OTTHUMP00000211953;OTTHUMP00000211954;OTTHUMP00000211955;OTTHUMP00000211956 APPROVED protein-coding ENSG00000106617 9386 04119 194200;261740;600858;602743 REVIEWED 732434 PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008] 3 3 p21.3-p21.2 48763097 48860274 - 48788093 48885270 - 1580714;1580863;2312475;6480464;6907045 10830164;14715913 9003463;12626323;10799517;19367581;17884635;17494870;17081989;17081983;16807684;16723498;16394127;14966294;12727975;12672969;12571360;12509440;12477932;12475942;12419802;12399526;12186851;12151104;12080047;11886862;11823486;11799244;11696326;11593431;11557526;11316952;11278869;11102458;10993882;10970852;10764601;10601332;10413680;10358086;10319321;10228048;10026146;9730685;9676433;9671211;9506976;9497389;9473338;9380760;9326583;9278385;9151826;9065479;8621616;8125992;8117614;7946090;7929081;7905481;7893490;7688126;6293815;2701845;2561973;2540040;2147685;1978848;1618839;1544918;12972513;9540970;17168834;9852104;12147701;11296225;9009265;11985580;10074940;9295304;11414803;20708017;10209101;16407073;19307216;20379146;2165385;22863883;22939629;20360068;21139048;21423175;21906983;19322201;21628590;22808067;23383273;15629779;18836454;19895210;20392842;20402410;21651489 5576 C9J830;H7C1L0;H7C330;H7C4A9;P13861;Q9BUB1 ABBA01024629;ABBA01024630;ABBA01024631;ABBA01024632;ABBA01024633;ABBA01024634;ABBA01024635;ABBA01024636;ABBA01024637;ABBA01024638;AC141002;AC144546;AK293042;AMYH01013153;BC002763;BT007225;CF994284;CH471055;NM_004157;X14968;X99455 AAH02763;AAP35889;BAF85731;CAA33094;CAA67817;EAW64925;EAW64926;EAW64927;EAW64928;NP_004148;P13861 Hs.631923 1774861;2115146 D3S3141;D3S3334 MGC3606;PKR2;PRKAR2 OTTHUMP00000164821;OTTHUMP00000210266;OTTHUMP00000210267;cAMP-dependent protein kinase regulatory subunit RII alpha;cAMP-dependent protein kinase type II-alpha regulatory subunit;protein kinase A, RII-alpha subunit;protein kinase, camp-dependent, regulatory, type 2, alpha APPROVED protein-coding 9391 01484 176910 REVIEWED 735310 PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008] 7 7 q22 106472414 106589492 + 106685178 106802256 + 1580863;2289157;2312475;6480464;6907045 11994539;14715913 2851102;12626323;18029348;18625701;18544528;18505904;17904549;16381901;15822905;15489336;15187164;14744463;14500661;12853948;12727985;12690205;12477932;12475942;11799244;11591815;11342137;11102458;11076863;10864471;10228048;9852104;9730685;9671211;9326583;9278385;9151826;8516283;8509414;7946090;7829531;7798223;7688126;7479855;3691190;3479018;1978848;1689049;1582408;1358799;1332964;17168834;12223483;10830164;10764601;11076968;11483602;11557526;12221128;12571245;12852856;15569306;16407073;16462731;20195266;20379146;2165385;7790358;21068099;21890473;22379998;20564261;15629779;18836454;19895210;20392842;20402410;21651489;22186894 5577 B3KY43;P31323 AACC02000004;ABBA01057912;ABBA01057913;AC004492;AC006387;AK128639;AK291441;AL559918;AMYH01017830;BC014355;BC075800;BQ022817;CA405423;CF593944;CH236947;CH471070;M31158;NM_002736 AAA60099;AAC08318;AAH75800;AAS07389;BAF84130;BAG54705;CAL37606;CAL37649;CAL38136;CAL38576;EAL24395;EAW83390;EAW83391;NP_002727;P31323 Hs.433068 1644188;1644540;1848411;2125102;2132356;2145704;2145960;2164982;2175353;2182800;2186384 D7S2773;D7S2783;D7S3073;G36363;G36364;G36365;GDB:4585637;PRKAR2A;RH69117;SHGC-30240;SHGC-33294 PRKAR2;RII-BETA H_RG363E19.2;OTTHUMP00000174592;WUGSC:H_RG363E19.2;cAMP-dependent protein kinase type II-beta regulatory chain;cAMP-dependent protein kinase type II-beta regulatory subunit;protein kinase, camp dependent regulatory, type ii beta 1643388 BW321_H APPROVED protein-coding ENSG00000005249 9392 01486 176912 REVIEWED 735732 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013] 17 17 q23-q24 64019705 64040506 + 66508110 66528911 + 1581267;1581269;1580863;2312475;6480464;6907045;7240710 10973256;12213893;14715913 22205709;3426618;15655353;17353931;19060904;12626323;1832337;19429701;19293268;18799465;18760947;18647815;18451138;18445140;18413734;18407462;18401830;18241045;18223213;18059235;18056771;17906691;17904549;17884635;17081983;17079485;17047380;17036196;16963469;16728532;16728394;16728392;16582606;16407073;16396496;16394127;16189514;16020889;15982496;15846072;15604292;15489334;15371594;15345747;15331577;15299023;15231748;15096576;14702039;14500362;12896975;12829237;12812976;12804576;12759461;12752185;12665801;12634056;12571360;12477932;12475780;12471216;12424709;12203783;12119280;12119264;11839645;11834733;11115848;10974026;10889203;10864471;10764601;10228048;10026146;9852104;9730685;9671211;9405392;9326583;9278385;9151826;9065479;9050991;8977401;8698339;8619474;8609225;8407966;7946090;7688126;7678053;6333425;6287816;3479018;2902627;2310396;1978848;1889088;12972513;9540970;17168834;12606363;11414803;9110174;21145461;20358582;20562859;20936779;20190548;11256614;17369818;19372376;19465483;19494712;19573263;19710015;19730683;19738044;19833579;19915019;19965660;20026299;20048145;20379146;20507346;2165385;20301463;21651393;22922884;22863883;22892599;23043190;16344560;23184937;20824711;21394209;22020668;16196087;21900385;21900206;20639865;21423175;21638026;20972266;21139048;21890473;21906983;21963094;22112814;22259056;20195357;21988832;23000965;22378744;22632512;19322201;22297707;22318606;20564261;22808067;22951902;23349050;22939629;22461635;15629779;18836454;19895210;20392842;20402410;21651489;22053931;22505724;22797925 5573 B2R5T5;K7EID3;K7EIE5;K7EJ40;K7EK41;K7EKR1;K7EM13;K7EMU2;K7EMZ6;K7ENR3;K7EPB2;K7EPR5;K7EQK3;K7ER48;P10644;Q68DQ4 A12295;AA015682;ABBA01028957;AC007780;AC079210;AF411298;AI074326;AK097580;AK124586;AK312307;AL050038;AL535889;AMYH01008591;AW732104;AY007115;BC036285;BC093042;BM928493;BU167718;BU188258;CH471099;CR749311;DA108801;DA219203;DA413808;M18468;M33336;NG_007093;NM_001276289;NM_001276290;NM_001278433;NM_002734;NM_212471;NM_212472;S54705;S54707;S54709;S54711;Y07642 AAB50921;AAB50922;AAH36285;AAH93042;AAL05860;ABM82701;ABM85885;BAG35232;BAG53489;CAA01027;CAA68925;CAH18166;EAW89060;EAW89061;EAW89062;EAW89063;EAW89064;EAW89065;NP_001263218;NP_001263219;NP_001265362;NP_002725;NP_997636;NP_997637;P10644 Hs.280342;Hs.745160 1661974;1724767;1725571;1725701;1736666;1775464;1798018;1851356;2152080;5125487;5491983 D17S1496E;D17S2143;G62011;G62113;PRKAR1A;PRKAR1A_2228;RH122590;RH36406;RH70215;SHGC-36616;STS-D29564 ACRDYS1;ADOHR;CAR;CNC;CNC1;DKFZp779L0468;MGC17251;PKR1;PPNAD1;PRKAR1;TSE1 cAMP-dependent protein kinase regulatory subunit RIalpha;cAMP-dependent protein kinase type I-alpha regulatory chain;cAMP-dependent protein kinase type I-alpha regulatory subunit;protein kinase A type 1a regulatory subunit;protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1);protein kinase, camp dependent regulatory, type i, alpha;tissue specific extinguisher 1;tissue-specific extinguisher 1 APPROVED protein-coding ENSG00000108946 9388 01786 101800;160980;188550;188830;255960;610489 REVIEWED 1353748 PRKCDBP protein kinase C, delta binding protein The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 6459218 6460782 - 6296752 6298316 - 6340176 6341740 - 633615;1580863;6480464 9054438 11691816;19262564;18059034;15940253;12477932;19679565;19679847;20423276;19913121;20628086;23020606;22939629;21913217;21980136;21987572;21139048;21906983;21150319;21963094;23118876 112464 E9PIE3;Q969G5 ABBA01028664;AC068733;AF339881;AF408198;AMYH01003366;BC011585;BC038387;BQ434360;CH471064;NM_145040 AAH11585;AAK97528;AAK97572;ABM83226;ABM86425;EAW68733;NP_659477;Q969G5 Hs.434044 1682041;1700126;2108881;2167426 PRKCDBP__5580.2;RH103676;RH80357;STS-AA030008 CAVIN3;HSRBC;MGC20400;SRBC;cavin-3 OTTHUMP00000164535;protein kinase C delta-binding protein;sdr-related gene product that binds to c-kinase;serum deprivation response factor-related gene product that binds to C-kinase APPROVED protein-coding ENSG00000170955 9400 17908 REVIEWED 736442 PRKCE protein kinase C, epsilon Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008] 2 2 p21 45732547 46268633 + 45879043 46415129 + 1581271;1580863;5131489;6480464;6484113;6907045 15792354;19934406 21236337;7522330;3259291;15632189;1382605;10438519;19432558;19248786;19244118;19168130;19030108;18988868;18663158;18556656;18462068;18458086;18436431;18408015;18398416;18319301;18317451;18296444;18292183;18237277;18184679;18172602;18171914;17991733;17851107;17785460;17678893;17668322;17628663;17616661;17569788;17561374;17434141;17382347;17215072;7935319;17038313;17018591;16930532;16793902;16785234;16698938;16637058;16461926;16266318;16079188;15967991;15949469;15894802;15827341;15815621;15809302;15784626;15718244;15698833;15691837;15627650;15572354;15559761;15509588;15499829;15489334;15467757;15381704;15368451;15364951;15284224;15233804;15190080;15147202;15003508;14739299;14720513;14709334;14656938;14643884;14600145;14532285;14523239;12972433;12970744;12941947;12893243;12857743;12794082;12783114;12782628;12665800;12663490;12640464;12536241;12505880;12505875;12482669;12477932;12385023;12372816;12372810;12205039;12198125;12185081;12134071;12121973;12093536;12055197;11997513;11994357;11968018;11964154;11956211;11934885;11919157;11897493;11884385;11877428;11839754;11834516;11833470;11809819;11788586;11740573;11739292;11709417;11696589;11553773;11350735;11154208;11140687;11085981;11062054;11044099;10945988;10862698;10848585;10843712;10801826;10679481;10536000;10407019;10212259;10092595;9822674;9671211;9446795;9360998;9312127;8940095;8914829;8824244;8627654;8621384;8567732;8346200;8224184;7877991;7523419;2182321;1374067;7850771;15689238;11504923;11141237;2139676;1832084;7642615;8206685;1970444;8599832;15488737;10491200;10641798;15078178;10417813;11950841;15213298;12223477;20677014;18947333;21081127;20732874;20471435;20566643;20936779;16810323;17203073;18844064;19324950;19429675;19435802;19542546;19573263;19577658;19633292;19635931;19655190;19662078;19815625;19862010;19874574;20072156;20171211;20198332;20200978;20350291;20379614;20965248;21124804;21277149;21423656;20353823;21283634;21532342;21411725;21596133;21489985;22712879;23564461;22927445;22955280;19920073;21964026;17603037;18604201;21955404;21465464;21858203;22304920;22424883;22162761;21996750;22384062;21649687;22318606;22475757;16314418;21482705;23266964;23349801;11700305;17392515;22939624;23071564;7588787;23166209;23222517;23364795;23446634;17632570;18577246;19011111;19363595;20336759;21651489;22114277;22158047;22773829;22849349;7876252;8473314;9151826;22326427;23123196 5581 C9JR22;E9PBI2;L7RTI5;Q02156 ABBA01075130;ABBA01075131;ABBA01075132;ABBA01075133;ABBA01075134;ABBA01075135;AC017006;AC017078;AC079892;AC092600;AC115109;AK128749;AK313842;AL832345;AMYH01010310;AMYH01010311;AMYH01010312;AMYH01010313;BC051195;BC054052;BC109033;BC109034;CA424727;CH471053;EU332867;JX512458;NM_005400;U51244;X65293 AAD08855;AAI09034;AAI09035;AAX93119;AAX93253;AAY14773;ABY87556;AGC09605;BAG36574;CAA46388;EAX00257;EAX00258;EAX00259;NP_005391;Q02156 Hs.580351 1336130;1337055;1338927;1339320;1659231;1672760;1672762;1673995;1676592;1679151;1685079;1690131;1709314;1710956;1714587;1722077;1723317;1726245;1734222;1734970;1739289;1753659;1764781;1772453;1772455;2130841;2138044;2145927;2166744;2171828;2175308;7186490 A006D15;D2S1489;D2S1717E;D2S1953E;D2S2182;D2S2240;D2S2378;D2S391;G20720;G60078;G63864;RH118474;RH119807;RH16512;RH18396;RH48314;RH68597;RH91418;RH91582;RH92278;RH98368;SHGC-107519;SHGC-148352;SHGC-34686;SHGC-63514;SHGC-81643;SHGC-84453;WI-10606;WI-10633;WI-13380;WI-19686 MGC125656;MGC125657;PKCE;nPKC-epsilon OTTHUMP00000159032;protein kinase C epsilon type APPROVED protein-coding ENSG00000171132 9401 01500 176975 REVIEWED 732858 PRKCG protein kinase C, gamma Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). [provided by RefSeq, Jul 2008] 19 19 q13.4 59077279 59102713 + 54385467 54410901 + 737791;1580863;1625124;737790;5131489;6480464;6484113;6907045;7240710 9545390;17347799;12644968;19934406 20471030;3755548;15808853;19165527;19060919;19041943;18716283;18577575;18503760;18499672;17708558;17659643;17562946;17508994;17343273;17233759;16828200;16713569;16394101;16193476;15964845;15894802;15851033;15489334;15467523;15381704;15364919;15148151;15014953;15003508;14699138;14694043;14676191;14676051;14654844;14561742;12958364;12954613;12950453;12569090;12551925;12519779;12482669;12477932;12471040;12417016;12164726;12147342;12134071;12093536;12091471;12054501;11919157;11884598;11833470;11749387;11502742;11325528;11306676;11278415;11154208;11123317;11063746;11044099;11042191;11035810;10939565;10871288;10862698;10843712;10547041;10542228;10531036;10441600;10212259;9814702;9786959;9694886;9671211;9576922;9446795;9345108;9244383;9030777;8940188;8940095;8914829;8662663;8631738;8627654;8432525;8375396;8080473;7606770;7499337;2460293;2307474;2182321;1714454;7850771;15689238;8206685;11504923;11141237;2139676;1832084;7642615;1970444;3259291;8599832;10491200;10641798;10433554;20398063;19913121;20627017;20628086;20395553;19895572;10194441;10856305;15459208;16055064;17203073;19234085;19561170;20188713;20346360;20301573;21832049;7588787;21536681;21235400;11700305;22939624;21827914;19920073;20596523;22114345;21906004;21434874;22675081;21482705;18577246;19363595;20336759;21651489;22114277;7876252;8473314;9151826 5582 B7Z870;B7Z8Q0;F5H5C4;H7BZ60;M0R0I9;M0R0Z4;P05129 AB209671;ABBA01068186;ABBA01068187;ABBA01068188;ABBA01068189;ABBA01068190;AC008440;AF345987;AK296412;AK296434;AK302958;AK303741;AK312302;AMYH01009968;AMYH01009969;BC047876;BI757265;CH471135;M13977;NG_009114;NM_002739;Z15114 AAA60102;AAH47876;AAK13533;BAD92908;BAG35228;BAH12345;BAH12352;BAH13856;BAH14036;CAA78820;EAW72161;NP_002730;P05129 Hs.631564 1338022;1341189;1341926;1805464;1807276;1808442;1812242;1815736;1816210;1816464;1820600;1823582;1825046;1825272;1828140;1828876;1830534;1832250;1835258;1840064;1840206;1840390;1841012;1842322;1844148;1844324;1845146;2103320;2103322;2103324;2103326;2103328;2103330;2103332;2103334;2103336;2103338;2103340;2103342;2103344;2107527;2157772;2190847;5037552 D19S206;D19S605;D19S926;D8S2279;ECD03680;ECD04606;ECD05203;ECD07128;ECD08906;ECD09146;ECD09274;ECD11375;ECD12883;ECD13624;ECD13740;ECD15193;ECD15565;ECD16403;ECD17263;ECD18784;ECD21216;ECD21287;ECD21380;ECD21699;ECD22364;ECD23287;ECD23376;ECD23790;PRKCG;PRKCG_2490.2;WI-20598;stSG605621;stSG605622;stSG605623;stSG605624;stSG605627;stSG605628;stSG605630;stSG605633;stSG605635;stSG605636;stSG605637;stSG605639;stSG605640 MGC57564;PKC-gamma;PKCC;PKCG;SCA14 OTTHUMP00000067291;protein kinase C gamma type APPROVED protein-coding ENSG00000126583 9402 01502 176980;605361 REVIEWED 69026 PRKCD protein kinase C, delta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 3 3 p21.31 53170263 53201773 + 53195223 53226733 + 1581271;1581272;1580863;1642524;1642527;1642533;1642542;1642547;1642521;729667;1642523;1642532;1642534;1642535;1625605;1642550;2298730;5131489;6480464;6484113;6907045 15792354;15532718;17350602;15507533;11478406;17322024;16990486;17659678;12217885;17596878;11576956;10756122;9458880;8826977;16924416;15541367;19934406 22403741;14583092;16611985;15282327;8976194;19248786;19248119;19213940;19190347;19188511;19169273;19164129;19158279;19146951;19074768;16772297;16687414;16669786;16651613;16646678;16614259;16572399;16543902;16505477;16489124;16460683;16440330;16412390;16410245;16403461;16377624;16343435;16278684;16260419;16174865;16158048;16127146;16114000;16055706;16055435;16052516;16039614;16033904;16024783;15942654;15923181;15894802;15851033;15824731;15806174;15802551;15774464;15757899;15735693;15716280;15698833;15637072;15623535;15618968;15618223;15601585;15536414;15494525;15494216;15489375;15488737;15381704;15364919;15358156;15340077;15337529;15331751;15322115;15308560;15304079;15302935;15284289;15280372;15213298;15175028;15167677;15133032;15123666;15044084;15024053;14970215;14966116;14963018;14757756;14720513;14715667;14699138;14699137;14661062;14656938;14654844;14636897;14596936;14581488;14578358;14561742;14551213;14527959;12943720;12941954;12847277;12842900;12826681;12817007;12809676;12805378;12795334;12783114;12763138;19059439;19037087;19030108;19015273;19002183;18990707;18974277;18952226;18836180;18752579;18682391;18653803;18637130;18637128;18594782;18579725;18550547;18541226;18497307;18479751;18436431;18434324;18425341;18413747;18362147;18342628;18285462;18285345;18172602;18092819;18067888;18055557;18006831;17965192;17959229;17943181;17938203;17933493;17904606;17698617;17689924;17673262;17666590;17608772;17603046;17579121;17565738;17562707;17549442;17495969;17455223;17431791;17374730;17316401;17311929;17303575;17244494;17226776;17210122;17178875;17135298;17126298;17017122;16982614;16981720;16951338;16930534;16930532;16901898;16895913;16843828;16785226;16785027;12759229;12759139;12729789;12682370;12682249;12663471;12649167;12637327;12634498;12628935;12576423;12551925;12536241;12535519;12522006;12510148;12505880;12493764;12482669;12477932;12454008;12435421;12431976;12427758;12393602;12759450;12387894;12379484;12377781;12377207;12361954;12235228;12210761;12198130;12193405;12162751;12154081;12147630;12134071;12097319;12093536;12091471;12080077;12056906;12054501;12031982;12024011;12014986;11972023;11964256;11959144;11943682;11923305;11919157;11916978;11914583;11901191;11901153;11884618;11884598;11877440;11877428;11864971;11839738;11833470;11822877;11818507;11781095;11749387;11748588;11744693;11732925;11723252;11713246;11700305;11676480;11577086;11571229;11558579;11555640;11517230;11466390;11463380;11438522;11415434;11389095;11381116;11352632;11350938;11335711;11278470;11266508;11171046;11154208;11145703;11085981;11053353;11044099;11042191;11035810;11020388;10948194;10945993;10843712;10831594;10770950;10737616;10646504;10628374;10542257;10542228;10521505;10446219;10433554;10329716;10212259;10206975;10090741;9872331;9857183;9832145;9819435;9804763;9774685;9771888;9748166;9735171;9679146;9671211;9446795;9427282;9355737;9343414;9305920;9166747;8999969;8999860;8914829;8824244;8810272;8647875;8627654;8621594;8621384;8429024;8357834;8188219;8089108;7988719;7925449;7890750;7781068;7706316;7690989;7575560;7559455;7543024;2987962;2984676;2182321;1939065;1848190;1694174;1677563;7850771;15689238;11504923;11141237;2139676;1832084;7642615;8206685;1970444;3259291;8599832;10491200;10641798;11950841;12807916;10698949;10383403;16314418;21155880;21159880;19913121;20236250;20628086;18556656;20395553;12721299;20471435;21335545;20733000;19932628;20732874;20961851;19669929;20547768;20548952;10383400;15632189;16024613;16042408;16421932;17203073;17850925;18029348;19279193;19356729;19366211;19437514;19458088;19458393;19477272;19492056;19563780;19581935;19591825;19592494;19632318;19662097;19664934;19667069;19747914;19801500;19808702;19833733;19854263;19875824;19885862;19897486;19917613;19924022;19951712;19966859;20074641;20086103;20093486;20097574;20110406;20152816;20184865;20190138;20335173;20379614;20416077;9139733;9705322;15516986;21076409;20665667;20959447;21311042;20607592;21307189;21191416;21146494;21233420;22974980;22554282;22744337;22988234;7588787;19279008;19279011;21454541;23028692;21321929;21576825;21652709;21736870;21804018;21730054;10022904;21326872;21386996;23525216;21468691;21895402;21362509;22653778;23562842;21562222;21732487;21191175;17893151;21858203;22009151;19903772;19920073;21805047;11078718;17392515;19725029;23000965;23454274;21840193;22528498;22052014;22199349;21618512;22216119;22282354;21926972;22162761;22163289;15731106;19953087;21139048;21890473;21906983;22065579;22001522;22435755;22496486;22266210;15978696;21832049;22356114;22374815;22475757;21482705;19553685;23473759;23319571;23430113;23449456;23349801;23128233;23221613;11502742;23283232;23455922;22984491;22326427;18092356;18577246;18692180;18854243;19363595;19380743;20336759;21651489;22114277;22517552;22687273;7876252;8473314;9151826 5580 C9J9P1;C9JZU8;C9K0E3;Q05655 ABBA01024491;ABBA01024492;AC097015;AK130150;AK294272;AK313216;AMYH01013191;AW293041;BC043350;BC127261;BE048101;CD369320;CH471055;D10495;DQ516383;FB775496;L07860;L07861;NM_006254;NM_212539;Z22521 AAA03175;AAA03176;AAH43350;ABF68960;BAA01381;BAG36031;BAG57562;CAA80249;CAV30705;EAW65279;EAW65280;NP_006245;NP_997704;Q05655 Hs.155342 1715649;1769911;1857485;2133934;2217848 A007D36;D2S2845;PRKCD_2760;RH119270;RH12466 MAY1;MGC49908;PKCD;nPKC-delta OTTHUMP00000165024;OTTHUMP00000165025;protein kinase C delta VIII;protein kinase C delta type;tyrosine-protein kinase PRKCD APPROVED protein-coding ENSG00000163932 9399 01501 176977 REVIEWED 7177053 PRKCQ-AS1 PRKCQ antisense RNA 1 10 p14 6622387 6627323 + 15146197;8619474;9110174 439949 ABBA01034764;AL158043;AMYH01002009;AY007155;CN429636;NR_036502;NR_036503 Hs.13262 1668915;1681038;1847891 RH98848;SHGC-16603;WI-20653 miscrna 44689 VALIDATED 731404 PRKCB protein kinase C, beta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 16 16 p11.2 23754823 24139063 + 23847300 24231932 + 1581275;1581276;1581274;1625511;1625515;1625513;1625519;1625520;1625524;1625124;1625525;1625527;1580863;1625516;729635;737729;1625512;1625514;2298729;5131489;6480464;6484113;6907045 16900949;12887134;9918525;17250813;12665248;15804434;16360284;15878997;15496608;17347799;15058486;14680365;12392998;12540629;12118249;17180352;15616014;17658244;19934406 9765207;3755548;18981301;10828076;9814702;10194441;10856305;19295663;19277684;19168795;19112601;19091746;18937679;18768137;18714023;18701509;18637128;18557705;18497307;18472156;18440851;18303026;18292183;18278479;18172602;18167130;18162471;18067888;17991733;17950644;17936705;17926183;17846295;17719638;17625596;17545677;17455194;17227757;17192257;17167344;17133356;17115053;17003377;16930534;16854530;16831865;16775601;16673150;16626305;16574993;16574992;16567829;16517978;16472601;16430878;16356855;16331690;16236825;16224561;16111671;16102725;16080189;16027742;16000408;15917249;15894802;15741241;15716278;15647851;15611095;15591231;15546881;15499829;15489334;15488737;15384959;15381704;15327405;15322124;15252133;15188402;15090600;15067001;15037605;14702039;14699138;14654845;14654844;14623273;14602581;14594954;14561740;14527960;12958364;12950453;12917261;12874455;12766174;12765965;12730099;12724308;12682249;12679936;15880462;12665801;12618484;12569090;12551925;12519779;12509514;12482669;12477932;12456365;12435880;12356761;12167592;12149258;12147342;12134071;12093536;12080070;12070292;12056906;12054501;12033257;12023512;11930178;11919157;11901153;11884598;11833470;11805327;11781100;11765038;11749387;11700305;11598012;11502742;11376011;11325528;11306676;11283022;11278415;11278382;11179083;11154208;11145703;11123317;11063746;11120743;11044099;11120522;11035810;11003709;10871288;10862698;10843712;10542228;10531036;10502411;10493829;10490850;10480917;10433554;9856494;9694886;9677319;9671211;9475183;9446795;9296367;9244383;9052983;9030777;9021343;8964400;8940188;8940095;8914829;8899875;8898866;8824244;8749392;8694767;8662663;8631738;8627654;8626698;8557118;8327493;8163551;8089108;8080473;8034726;8034666;7961692;7880442;7876254;7716516;7693453;7588787;7499337;3677994;3666134;3658678;2757032;2182321;2140056;1714454;1611098;1556124;1400396;1324914;1321150;7850771;11744714;15689238;11504923;11141237;2139676;1832084;7642615;3259291;8206685;1970444;8599832;10491200;10641798;10417813;10212259;12743109;15213298;10446219;17069764;22670899;19913121;20628086;20846475;20736472;20439192;19895572;20098747;20015121;20534587;15632189;16055064;16954220;17203073;18317465;19573263;19681907;19693767;19887445;19907441;19966859;20141354;20164467;20179100;20228790;20346360;20379614;20442744;20511681;20522523;19949911;20099025;20618341;21525390;22633971;23337848;23455922;23503679;8663071;21817106;19920073;21134959;21467074;17893151;21323641;22114345;11078718;19738201;22939624;23280626;22016563;22197823;22162761;22446963;17121852;21044950;22479367;22318606;22322241;9815893;18596232;21482705;22547057;22833470;23328482;23458603;21997316;23204109;17632570;18541226;18577246;18632858;18692180;19363595;20336759;20842205;21651489;22114277;22930730;23042805;7876252;8473314;9151826;23128233 5579 H3BV73;I3L148;I3L1Z0;Q9UE50 AA613106;ABBA01017076;ABBA01017077;ABBA01017078;ABBA01017079;ABBA01017080;ABBA01017081;ABBA01017082;ABBA01017083;AC002299;AC010268;AC130448;AC130454;AI423262;AJ002788;AK057555;AK123381;AL833252;AMYH01007386;AMYH01007387;AMYH01007388;AMYH01007389;AMYH01007390;BC036472;BC045175;BI549165;CH471145;D10022;DB456157;FJ907246;GN375923;M13975;M18254;M18255;NG_029003;NM_002738;NM_212535;S47311;X05971;X05972;X06318;X07109;X62532 AAA60095;AAA60096;AAA60097;AAB97933;AAB97934;AAD13852;AAH36472;ACE87802;ACS14045;ACT64387;BAA00912;CAA29395;CAA29396;CAA29634;CAA30130;CAA44393;CAZ00742;EAW55796;EAW55797;EAW55798;EAW55799;NP_002729;NP_997700;P05771 Hs.460355 1651764;1661709;1661878;1686012;1729542;1736584;1738589;1741363;1775482;1854814;2147222;2155177;2164339;2186209;5093128 A009H10;D16S2567E;D16S2580E;D16S2744;D16S294;D16S3216;G32537;GDB:180922;RH68302;RH70812;RH93580;SHGC-30376;SHGC-60507;SHGC-61073;WI-12240 MGC41878;PKC-beta;PKCB;PRKCB1;PRKCB2 OTTHUMP00000162377;OTTHUMP00000162378;PKC-B;protein kinase C beta 1;protein kinase C beta type;protein kinase C, beta 1 polypeptide APPROVED protein-coding ENSG00000166501 9395 01499 176970 REVIEWED 737062 PRKCA protein kinase C, alpha Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008] 17 17 q22-q23.2 61729388 62237324 + 64298926 64806862 + 1581271;1581272;1581273;1581274;1625124;1580863;1601471;2298729;2292446;2292462;2292478;2292455;2298669;2298671;2292458;2292460;2292463;2292480;2293301;2292474;5131489;6480464;6484113;6907045 15792354;15532718;12619877;9918525;17347799;8077302;17658244;17965220;11371124;17700073;16008942;15922420;10589745;15454252;12888898;9474241;17556659;18032736;17905752;19934406 15233804;9738012;15383279;22393054;16517978;16338977;16300929;16297876;16236797;16099831;16087181;16081872;16080189;16079140;16027158;16006559;15917995;15894802;15814724;15757899;15691837;15627650;15613483;15603822;15583006;15576373;15572354;15564481;15563462;15555220;15531915;15509588;15504744;15499829;15489334;15456937;15381704;15284224;15277524;15272003;15269224;18489726;18474624;18434368;18401527;18372343;18372238;18354190;18314869;18292781;18281137;18239055;18206668;18184679;18162471;18089814;18056764;17974965;17951978;17936705;17934063;17923691;17786270;17724468;17689692;17666590;17591920;17588800;17545611;17525530;17459358;17455194;17341442;17334233;17321722;17307332;17255356;17212360;17197445;17192257;17171646;17157935;17081983;17061041;16984735;16979586;16964312;16964243;16963226;16942862;16939222;16890208;16775601;16751194;16710050;16697522;16673150;16642043;16620963;16571380;12893243;10825394;9814702;17983652;10194441;10856305;19576566;19459855;19357285;19324870;19291828;19235902;19176518;19158275;19116345;19097143;19088254;19087983;19086053;19073232;19060919;19056838;18991684;18983267;18950621;18755856;18660489;18637128;18622039;18566014;18534651;18503554;15228384;15221008;15192100;15169840;15159477;15155525;15134451;15123666;15121854;15084746;15051732;15003508;14960580;14739142;14709334;14702039;14699138;14654844;14636580;14606067;14596793;14532112;14527960;12972622;12960759;12958364;12954613;12952980;12950453;12930825;12919677;12907651;12896972;12890670;12881490;12878187;12843260;12839565;12824193;12805550;12783114;12773393;12754513;12754211;12724315;12704190;12670483;12665801;12652652;12647293;12632071;12630910;12618484;12610653;12609995;12586732;12569090;12551925;12536241;12531893;12519779;12509413;12490289;12486117;12482669;12477932;12459461;12435334;12431982;12412804;12399526;12372816;12372800;12359212;12351446;12269829;12175859;12173071;12162751;12149272;12147342;12138200;12138090;12135703;12134071;12112001;12097375;12093536;12080070;12077120;12064599;12058067;12056906;12054501;12052829;12034821;12000751;11950841;11937501;11930178;11919157;11916978;11910029;11904166;11901153;11895774;11895474;11884598;11864971;11836255;11833470;11805101;11788586;11781100;11751262;11749387;11744641;11741957;11740573;11705379;11700305;11688977;11557526;12351631;11517287;11502742;11498053;11466413;11438671;11399752;11397799;11387207;11343707;11342557;11325968;11325528;11316952;11306676;11298324;11284700;11278470;11278415;11273731;11248124;11246878;11238007;11237868;11154208;11145703;11123317;11121119;11104776;11085981;11063746;11044099;11042191;11042115;11035810;11024037;11007883;10993892;10970850;10934041;10912793;10874031;10871288;10861222;10858434;10848585;10843712;10831594;10823959;10816571;10806197;10779366;10766777;10760275;10739259;10667577;10628374;10617144;10531036;10501226;10477766;10441128;10433554;10400690;10366608;10339425;10212259;9935181;9853757;9839716;9837921;9722557;9721757;9716136;9694886;9677319;9671211;9647734;9624226;9571186;9566962;9556568;9506976;9468546;9446795;9405395;9389649;9374536;9353340;9346285;9341215;9341188;9244383;9242710;9155020;9151826;9109675;9099669;9099667;9072970;9030777;9030586;9016777;8940188;8940095;8914829;8856079;8848293;8798526;8663994;8663267;8662663;8647866;8631738;8627654;8617805;8557118;8530412;8506364;8477740;8473314;8463287;8404858;8390988;8321321;8206971;8089108;8080473;8034575;7935319;7926007;7925482;7876254;7876252;7822264;7759492;7646439;7644499;7595479;7539802;7525583;7523419;7522330;7520867;7499337;3755548;3472757;3160694;2996780;2946940;2941417;2584239;2500966;2473066;2413024;2336401;2182321;2155236;2114109;2061327;2040602;1827443;1714454;1663499;1553557;1454855;1377674;1375933;1374067;1335366;1322130;1321150;7850771;11744714;15689238;11504923;11141237;2139676;1832084;7642615;8206685;1970444;3259291;8599832;15488737;10491200;10641798;11312657;9139671;9032396;9049329;8178481;7540194;17893151;1324914;11007882;12595241;12682370;15069082;10383403;22617682;22532149;22670899;21389833;20430034;20816195;18556656;20149875;20673527;20032081;20398285;17828490;20141446;20216103;20458747;20689063;20691662;20486122;19895572;20426528;20513439;20444294;20815813;20819076;11588141;14670076;15632189;16042408;16055064;17203073;17350576;18029348;19029835;19117992;19281832;19324950;19340015;19356729;19449091;19509063;19523156;19592459;19609943;19626679;19635931;19639961;19655190;19672862;19681907;19712589;19794964;19801684;19825989;19855090;19950169;20011080;20030858;20056645;20145126;20333651;20346360;20350647;20379614;20385812;20453000;17392515;21076409;20940303;15896703;18566587;20407865;22653970;22815910;22939629;20228790;20419132;21354279;21705328;17438848;20506636;16836077;20618341;21156808;19786960;10889043;9837753;19698232;21113078;23066026;22919060;16923831;23115237;7588787;22732145;21321125;10770950;20422977;10022904;21386996;21482705;21825068;21712053;21576361;21658388;21720730;8375396;9480874;9716497;22969158;23070544;21090097;21474332;21741352;11909826;21045808;21873429;21903576;9830023;21323641;21735098;21840882;21952047;21957166;22114345;9202019;19920073;21829170;21448905;9927633;21895402;22797061;22898813;22532564;23389293;22536444;22586106;19322201;21106355;22407785;12571249;15927069;21139048;21890473;21949397;22021425;22027822;22031842;22242952;22242955;22247259;22559731;22475757;22537850;16371461;16314418;22087225;22685300;21988832;22939624;23000965;23393340;9670010;23098446;23526078;10398585;23288845;23349388;23401860;22469974;23402259;23508961;23525101;8663071;10358153;17632570;17904606;18577246;18632858;19363595;20336759;20433920;20622900;20842205;21651489;22114277;22505724;22582175;22639047;22773839;23201854;17244820;22865467 5578 J3KN97;J3KRN5;P17252;Q7Z727 AA017296;AB209475;AB451258;AB451383;ABBA01029020;ABBA01029021;ABBA01029022;ABBA01029023;ABBA01029024;ABBA01029025;ABBA01029026;ABBA01029027;ABBA01029028;ABBA01029029;AC005918;AC005988;AC006263;AC006947;AC009452;AC060796;AF035594;AF035595;AF086287;AF395829;AK055431;AK125425;AK130736;AL596674;AMYH01008578;AMYH01008579;AMYH01008580;AMYH01008581;AMYH01008582;AY633609;BC015855;BC053321;BC062759;BC071767;BC103691;BC107592;BC109273;BC109274;BC122530;BM015483;BQ018414;BU150006;BX648954;CA417000;CH471099;CS098008;FB764948;M22199;NG_012206;NM_002737;X52479 AAA60098;AAH53321;AAI09274;AAI09275;AAK84184;AAV33302;ACE87779;ACT64445;BAD92712;BAG70072;BAG70197;CAA36718;CAJ00128;CAV30668;EAW89014;NP_002728;P17252 Hs.531704;Hs.708867 1336942;1341398;1648310;1652985;1663433;1673044;1704282;1716733;1717275;1717467;1718461;1729073;1761057;1764485;1770187;2112544;2134221;2134223;2149236;2167472;2219560;5014051;5022200;5109281;7185561 A007G15;D17S1291;D17S1318;D17S1524;D17S1816;D17S1977;D17S942;D1S1425;D3S4330;D8S2278;GDB:371878;L18003;L18426;PRKCA_2806;Prkca;RH121658;RH122052;RH122238;RH122431;RH68523;SHGC-145007;SHGC-148093;SHGC-57849;SHGC-83280 AAG6;MGC129900;MGC129901;PKC-alpha;PKCA;PRKACA PKC-A;aging-associated gene 6;protein kinase C alpha type APPROVED protein-coding ENSG00000154229 9393 01498 176960 REVIEWED 1351212 PRKD1 protein kinase D1 PRKD1 is a serine/threonine kinase that regulates a variety of cellular functions, including membrane receptor signaling, transport at the Golgi, protection from oxidative stress at the mitochondria, gene transcription, and regulation of cell shape, motility, and adhesion (summary by Eiseler et al., 2009 [PubMed 19329994]).[supplied by OMIM, Nov 2010] 14 14 q11 29115436 29466650 - 30045685 30396899 - 6480464;6484113 12893243;8119958;10856238;19329994;19258390;19243594;19211839;19176759;19173301;19029298;19011111;18829454;18703509;18694729;18641342;18602367;18440775;18332134;18283041;18259765;18239146;17979146;17804414;17703233;17635916;17591919;17570131;17492941;17442957;17389598;16166634;16006559;15755722;15738054;15728188;15623513;15367659;15146197;15123666;15093611;15024053;15003508;14743217;14607845;14550308;12859948;12778467;12646240;12637538;12628923;12482669;12393506;11978539;11948398;11919157;11903052;11884618;11833470;11741879;11641411;11549247;11154208;11114197;11081517;11044099;10998417;10965134;10867018;10843712;10831594;10561498;22664730;22226883;10523301;10412981;10092600;10092595;9671211;9446795;8914829;8885868;8627654;2987962;2984676;2182321;5668;16005295;12223477;15383279;20677014;21189263;20477989;18029348;19029091;20444975;20940406;20363754;20935630;15695390;17024177;19135240;19416469;19458088;19548982;19567672;19581308;19655095;19767773;19794144;20082306;20160036;20621130;21148796;21087603;20857418;22975325;22855295;23148218;18059339;23178798;22100296;21726532;21832093;12505989;21081666;21680539;21848513;21996340;22188925;21139048;21993564;22228765;22276203;22260707;22217708;22095288;22245102;22475757;21482705;21890473;22939624;23251661;23382691;16539678;18577246;20336759;21651489;22791710 5587 F8VZ98;F8WBA3;H0YHL5;H0YHS9;Q15139 ABBA01061384;ABBA01061385;ABBA01061386;ABBA01061387;ABBA01061388;ABBA01061389;ABBA01061390;AK314170;AL135858;AL355053;AL356756;AL445884;AMYH01005632;AMYH01005633;AMYH01005634;BX645735;CH471078;CN412379;DQ485452;NM_002742;X75756 AAI60015;ABE96833;BAG36853;CAA53384;EAW65970;EAW65971;NP_002733;Q15139 Hs.508999 1337405;1684052;1715819;1717705;1721643;1752611;1788936;1796576;2127988;2151762;2165816;2169760;2191079 AFM207xb12;D14S1146;D14S252;G59832;MARC_14413-14414:1010075307:1;PRKCM_228;RH119606;RH121759;RH47598;SGC32910;SHGC-106490;STS-X75756;UniSTS:224841 PKC-MU;PKCM;PKD;PRKCM OTTHUMP00000178785;OTTHUMP00000211754;nPKC-D1;nPKC-mu;protein kinase C mu type;protein kinase C, mu;protein kinase D;serine/threonine-protein kinase D1 APPROVED protein-coding ENSG00000184304 9407 05668 605435 VALIDATED 735345 PRKCH protein kinase C, eta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. [provided by RefSeq, Jul 2008] 14 14 q23.1 60858268 61087451 + 61788515 62017698 + 1580863;5131657;5131489;6480464;6484113;7240710 9677361;19934406 11741879;11700305;11727958;11175348;11154208;11044099;10867018;10843712;10806212;10497222;9671211;9446795;8914829;8627654;8621660;8621384;7988719;2182321;1590767;1545821;1545811;7850771;15689238;11504923;11141237;2139676;1832084;7642615;8206685;1970444;3259291;8599832;10491200;10641798;12223477;15383279;1986216;19520989;19286657;19211565;19198108;19069168;18504423;18164711;17957454;17786031;17492941;17206144;17195206;17146445;16242915;15489897;15159477;14702039;14666709;12829844;12783114;12646210;12482669;12477932;12080077;11919157;11833470;11781100;21346190;10491320;20602195;20677014;20936779;20486122;15632189;17203073;17335965;19523467;19693767;19703523;19797084;20001341;20184865;20379614;16226712;22892130;22664044;22999931;21820409;21625852;15003508;11772428;18780722;19114660;21756056;19920073;22044875;21139048;21906983;22305966;22446963;22808203;11884598;22213077;22939624;17904606;18577246;19363595;20336759;21651489;22114277;22505724;7876252;8473314;9151826 5583 B4DJN5;G3V304;G3V3E7;G3V4G6;G3V4H0;G3V4L3;G3V4Q6;G3V4Q9;G3V4X4;G3V520;G3V5F8;G3V5U5;G3V5Y6;P24723 AB451313;ABBA01018298;ABBA01018299;ABBA01018300;AF045569;AK093241;AK290183;AK296158;AK300864;AL138996;AL355916;AMYH01005775;AMYH01005776;AX775931;AX775933;BC001000;BC037268;CA447784;CB994021;CD522081;CH471061;CQ834780;HI574284;M55284;NG_011514;NM_006255;S74620 AAA60100;AAB32724;AAD12779;AAH01000;AAH37268;ABM81816;ABM84971;BAF82872;BAG58897;BAG62513;BAG70127;CAE11665;CAE11666;CAH05605;CBX47631;EAW80800;EAW80801;EAW80802;NP_006246;P24723 Hs.333907 1660029;1704982;1706774;1731613;1742625;1742629;1742631;1742637;1742639;1742645;1742649;1750695;1771406;1771408;1774122 A005M45;D14S1245;D14S1258;D14S168;G20342;GDB:198169;GDB:198171;GDB:198172;GDB:198175;GDB:198176;GDB:198180;GDB:198182;SHGC-112178;SHGC-77995;SHGC-80856 MGC26269;MGC5363;PKC-L;PKCL;PRKCL;nPKC-eta OTTHUMP00000179058;OTTHUMP00000246352;protein kinase C eta type;protein kinase c-eta APPROVED protein-coding ENSG00000027075 9403 05669 601367;605437 REVIEWED 1350580 PRKCQ protein kinase C, theta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] 10 10 p15 6509111 6662244 - 6469105 6622254 - 1625613;1625625;1625124;1625603;1625604;1625605;1625610;1580863;5131489;6480464;6484113;6907045 11735277;8180127;17347799;10923637;9000691;8826977;15606904;19934406 22542470;12077322;11956228;11919157;11833470;11772397;11410591;11358993;11337467;11154208;11120819;11114301;11044099;10980603;10843712;10746729;10725744;10716728;10652356;10512725;10433554;9856983;9671211;9606192;9516463;9446795;9353339;10383400;10636891;11788586;17588663;7686153;8444877;19240061;19164598;19073967;19050260;18978792;18802089;18802085;18796635;18794853;18250452;18184679;18086904;18037997;17904606;17846228;17548359;17339328;17192257;16964635;16849481;16309697;16264271;16252004;16210616;16009340;15894802;15802604;15790681;15749850;15592506;15522211;15489334;15364919;15358536;15289315;15217944;15192100;15164054;15150272;15064353;14985363;14985240;14699138;14673152;14525764;12890684;12730099;12618484;12504004;12482669;12477932;12421956;12097375;9268366;9260867;9252332;8985252;8914829;8816492;8627654;7790001;2182321;7850771;15689238;11504923;11141237;2139676;1832084;7642615;8206685;1970444;3259291;8599832;10491200;10641798;12734410;11222731;9617893;8663223;22330070;22403784;22905394;19913121;20472553;20628086;20677014;12154370;20453842;20716167;20486122;20664063;20511557;18521081;16385451;19430480;19644859;19674979;19851296;20049410;20198315;20203524;20219786;20233754;20339032;20379614;20439292;20444755;20498205;19949911;21160038;21252065;21419345;22286759;21944869;23455922;21358619;19920073;11342610;16356855;20164171;21840039;22197035;22303480;22399613;23192428;22547057;17363905;22939624;23086478;23508266;23509302;10358153;17632570;18092356;18577246;19363595;20336759;21651489;22114277;22505724;22787157;7876252;8473314;9151826;16709830;15254234 5588 B4DF52;Q04759 AA234440;ABBA01034764;AI570478;AK293935;AK308099;AK312411;AL137145;AL158043;AMYH01002009;AU099414;AY702977;BC101465;BC113359;BC143222;BF592799;BX647657;CH471072;L01087;L07032;NM_001242413;NM_006257;R40214 AAA60101;AAA75571;AAI01466;AAI13360;AAU29340;ADR83239;BAG57313;EAW86392;EAW86393;EAW86394;NP_001229342;NP_006248;Q04759 Hs.498570 1664323;1709070;1770327;1770999;2110677;2126647;2127054;2180397 D10S2139;PRKCQ_2384;RH68983;SHGC-34074;SHGC-36302;SHGC-85682;STS-R16896;STS-W72149 MGC126514;MGC141919;PRKCT;nPKC-theta OTTHUMP00000019053;protein kinase C theta type APPROVED protein-coding ENSG00000065675 9410 02710 600448 VALIDATED 732937 PRKCI protein kinase C, iota This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008] 3 3 q26.3 171422914 171506464 + 169940220 170023770 + 1580863;2292460;2314932;2314944;5131498;5132275;5131489;6480464;6484113;6907045 12888898;18538170;14691046;20136499;16525119;19934406 8226978;12893243;11257119;14676191;11260256;19290490;19243387;19101699;19060919;18632643;18571841;18562307;18427549;18270268;18234642;18212741;18211289;17990328;17588663;17570678;17133348;16820593;16644736;16361262;16341674;16125198;16116079;15994303;15887250;15705582;15695176;15590654;15489334;15192100;15146197;15143057;15037605;15024028;14670960;14570876;12815264;12791393;12761193;12725730;12482669;12477932;12140376;11978974;11919157;11856176;11833470;11724794;11713277;11669302;11158308;11154208;11044099;10843712;10764742;10567402;10356400;9933579;9671211;9566925;9446795;9346882;8914829;8627654;8524286;7607695;2182321;7850771;15689238;11504923;11141237;2139676;1832084;7642615;3259291;8206685;1970444;8599832;10491200;10641798;10383403;12459187;12832475;16189514;12813044;8797824;20371701;21419810;22120720;21300793;20463008;20686607;20562859;20815904;10022904;10848576;10934474;11244088;14684752;15302858;16997282;17350623;17626746;19327373;19549684;19615732;19617897;19774416;19805306;20445233;2457390;21189248;20945390;21310827;21497093;11574546;21373201;21535317;21685893;21832049;21667320;10467349;20360068;21775625;22318606;21139048;21906983;21900206;21987572;22021906;19322201;21315177;15324659;16678097;23396968;20808283;21988832;22883624;22939624;23439680;22349825;18577246;19363595;20336759;21651489;22114277;22522453;22797925;7876252;8473314;9151826;17979178;23446420 5584 P41743 AB451443;ABBA01058685;ABBA01058686;ABBA01058687;AC023891;AC073288;AI521422;AK315342;AMYH01013643;BC022016;BC042405;BM767350;BQ014217;CH471052;CN412350;L18964;L33881;NM_002740 AAA60171;AAB17011;AAH22016;BAG37741;BAG70257;EAW78513;EAW78514;EAW78515;NP_002731;P41743 Hs.478199 1681064;1690878;1693462;1726161;1728589;1767547;1852199;2121714;5022450;5024761;5112646 D10S275;D3S3929;DXS7583;G62256;G63586;RH36905;RH65164;RH65381;SHGC-59107;SHGC-77518;SHGC-77522 DXS1179E;MGC26534;PKCI;nPKC-iota OTTHUMP00000196630;PRKC-lambda/iota;aPKC-lambda/iota;atypical protein kinase C-lambda/iota;protein kinase C iota type;protein kinase c, lambda APPROVED protein-coding ENSG00000163558 9404 02105 600539 REVIEWED 1353868 PRKD3 protein kinase D3 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. This kinase can be activated rapidly by the agonists of G protein-coupled receptors. It resides in both cytoplasm and nucleus, and its nuclear accumulation is found to be dramatically enhanced in response to its activation. This kinase can also be activated after B-cell antigen receptor (BCR) engagement, which requires intact phopholipase C gamma and the involvement of other PKC family members. [provided by RefSeq, Jul 2008] 2 2 p21 37331149 37397726 - 37477645 37544222 - 6480464 17196367;10231560;19264651;17889508;17081983;16964243;16380377;15824133;15496505;14743217;14702039;12676944;12506120;12482669;12477932;12080077;12054501;11919157;11884598;11833470;11749387;11154208;11044099;11035810;10843712;9671211;9446795;8914829;8627654;8274451;2182321;16147992;19615732;18029348;20098747;20621130;22983445;21081666;21900206;22893698;21139048;20813660;20813663;21890473;21988832;23393329 23683 C9JKP8;H0Y5M6;H7C172;O94806 AA631772;AB015982;ABBA01074978;ABBA01074979;AC007390;AK027585;AK122883;AMYH01010259;AW515068;BC012820;BC030706;BI262400;BQ051077;BU173084;CH471053;NM_005813;Z25429 AAH30706;AAY14817;ADZ15743;BAA36514;BAG51354;CAA80916;EAX00398;EAX00399;NP_005804;O94806 Hs.660757;Hs.716034 1647247;1687620;1695608;1796578;2120549;5022578;5037552;5093978 A009Z48;D1S1423;D8S2279;G33034;PRKCN_1354;RH94167;SHGC-68614;WI-17732 EPK2;PKC-NU;PKD3;PRKCN;nPKC-NU OTTHUMP00000126953;protein kinase C nu type;protein kinase C, nu;protein kinase EPK2;protein-serine/threonine kinase;serine/threonine-protein kinase D3 APPROVED protein-coding ENSG00000115825 9408 06151 607077 REVIEWED 1342931 PRKD2 protein kinase D2 The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 q13.3 51869413 51912224 - 47177573 47220384 - 1580863;6480464 18262756;12058027;11062248;19192391;19001381;18758461;17962809;17951978;17570131;17192257;17121608;17081983;17077180;16928771;16899224;16344560;16083285;15975900;15623513;15604256;14743217;14702039;12646243;12477932;11042152;19430480;19520973;19581308;19615732;20332261;20732914;19913121;20553269;20628086;20731705;20855867;21173164;18440775;18059339;21736870;22217708;21081666;21139048;21865166;21890473;21900206;22734003;15231748;22939624;23393329;23251465 25865 M0QXC6;M0QZ82;M0QZC2;M0QZW1;M0R012;M0R2R2;M0R2Z8;M0R346;Q8NCK8;Q9BZL6 ABBA01040984;ABBA01040985;AC008635;AC093503;AF151021;AF309082;AK074673;AK075266;AK092896;AK095884;AK300339;AK303629;AL050147;AMYH01009869;AMYH01009870;BC015472;BC025307;CH471126;CQ783562;DA475821;NM_001079880;NM_001079881;NM_001079882;NM_016457 AAF36107;AAH15472;AAI56074;AAI56947;AAK01149;BAC11127;BAC11508;BAG53158;BAG62084;BAG64637;CAB43292;CAF86729;EAW57441;NP_001073349;NP_001073350;NP_001073351;NP_057541;Q9BZL6 Hs.466987 1773637;2132443;7186133 A006X30;D19S1076 HSPC187;PKD2;nPKC-D2 nPKC-D2;serine/threonine-protein kinase D2 APPROVED protein-coding ENSG00000105287 17293 09523 607074 REVIEWED 736361 PRKCZ protein kinase C, zeta Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 p36.33-p36.2 1971769 2106694 + 1981909 2116834 + 1581275;1580863;1642650;1642528;2298729;5132275;5131661;5131489;6480464;6484113;6907045 16900949;12882908;12960081;17658244;16525119;20570724;19934406 15069075;10770953;7925449;19380829;19339512;19304661;19201988;19187446;19164129;19086264;19061073;19033536;18989463;18760839;18668687;9689078;9671211;9566925;9512493;9455484;9446795;9388266;9305920;8940095;8914829;8856079;8797824;8627654;8621384;8375396;8224878;8206971;8089108;7522330;2182321;7850771;11504923;11141237;15689238;2139676;1832084;7642615;8206685;1970444;3259291;8599832;10491200;10641798;16189514;12459187;10212259;12813044;15665819;15761148;12223477;15707389;15499829;15489334;15381704;15362041;15358551;15313379;15285019;15254234;15210811;15172966;15159477;15081397;15003508;14744756;14702039;14699138;14697253;14654844;14576165;14570876;14500673;12970910;12920244;12905768;12905622;15526032;12900386;12893243;12882907;12881425;12791393;12783114;12774026;12748064;12671055;12551925;12493764;12482669;12477932;12435813;12244101;12242277;12234671;12223351;12162751;12139760;12134071;12105221;12093536;12056906;12021260;11960776;11937546;11919157;11833470;11788586;11781095;11765038;11755531;11740573;11739185;11684013;11585925;11535599;11481324;11462174;11381116;11260256;12887891;11222751;11158308;11154208;11145703;11063744;11053446;11044099;11016947;10843712;10831594;10779355;10764742;10764587;10747026;10733591;10636891;10620507;10617144;10527887;10477520;10383403;10357815;10356400;10339425;10195894;10085094;10022904;9971736;9768361;9756852;9748166;18615853;18571841;18385757;18354190;18343365;18321849;18319301;18313384;18296444;18166155;18094075;18067888;18050214;17850789;17786270;17682059;17544492;17541951;17525161;17446166;17398070;17389234;17369850;17346701;17313651;17081983;17024099;16943418;16940160;16931574;16798739;16792529;16710414;16644736;16611744;16407220;16344560;16287866;16011831;15956717;15935276;15894802;15887250;15870274;15808853;15721486;15630457;15604116;15544481;23374352;20538799;20679531;19913121;20236250;20628086;16712791;20463008;21081127;20941506;20417648;20501645;20407013;20936779;11723139;14560023;17203073;17335965;17588663;17850925;18190796;19460843;19502590;19751727;19809379;19812540;20236512;20416077;21107309;22740332;18258854;20949042;20844151;7588787;21390241;21454526;10770950;21624955;21619587;21315177;22242160;21849550;19920073;21667320;21645497;14676191;21895402;21911421;21780947;22610405;11035106;17893151;21139048;21900206;23349801;23402259;8663071;22231931;22324796;21131967;22390153;21871968;15143057;17906294;20881960;22475757;23266528;17101696;10491320;22475628;20368287;22939624;23004934;23023376;18577246;19363595;20336759;21651489;22114277;22505724;22644296;22812606;7876252;8473314;9151826;22750245;22791907 5590 D6RAN5;D6RAU1;D6RBD4;D6RC84;D6RCN4;D6RD31;D6RDM0;D6REZ8;D6RG01;D6RGG1;D6RJG4;E9PBE1;F2Z2H9;F2Z3C5;J3KRP7;Q05513 AB007974;ABBA01016083;ABBA01016084;ABBA01016085;ABBA01016086;AK097627;AK131526;AK290995;AK294649;AK294782;AK302160;AK310372;AL162271;AL391845;AL542576;AL590822;AL645703;AMYH01000163;AMYH01000164;AU134793;BC008058;BC014270;BT007082;CB152283;CH471183;DC312466;L14283;NG_029616;NM_001033581;NM_001033582;NM_001242874;NM_002744;Z15108 AAA36488;AAH08058;AAH14270;AAP35745;ABM83855;ABM84848;ABM87177;BAF83684;BAG53497;BAH11833;BAH11883;BAH13641;CAA78813;EAW56130;EAW56131;NP_001028753;NP_001028754;NP_001229803;NP_002735;Q05513 Hs.496255 1667480;1673340;1722539;1758115;1850765 G60196;SHGC-147428;SHGC-33169;SHGC-74092;SHGC-74107 PKC-ZETA;PKC2 OTTHUMP00000001368;OTTHUMP00000196802;OTTHUMP00000220759;OTTHUMP00000220762;nPKC-zeta;protein kinase C zeta type APPROVED protein-coding ENSG00000067606 9412 01504 176982 REVIEWED 1625087 PRKRAP1 protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1 6 28308200 28309961 - 21048031 731716 ABBA01028477;BX649210;CR933540;NG_023048 1679872;1688769;1734818;2165133;2165135 A005Y08;D2S1579E;G20590;RH47285;RH98579 pseudo 33447 INFERRED 1320068 PRKCSH protein kinase C substrate 80K-H This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 19 19 p13.2 11407269 11422783 + 11546269 11561783 + 1599188;1580863;6480464;6907045;7240710 12529853 2793184;9043864;19308730;19061073;18990696;18419150;18224332;16835903;15707389;15489334;15188177;15133510;15057895;12841677;12665801;12577059;12477932;11047756;10929008;10764838;10764837;10684806;9846883;9148925;8910335;8895530;8125298;2241894;1076483;16169070;21371016;20095989;18303019;19801576;20408955;20490454;22863883;22939629;20000738;21681021;21139048;21890473;20360068;21856269;21900206;12586822;21963094;21988832;22190034 5589 K7EIP3;K7EJ70;K7EKX1;K7EL27;K7ELL7;K7EPW7;P14314 ABBA01029852;ABBA01029853;ABBA01029854;ABBA01029855;AC008481;AC024575;AF144075;AK130663;AK225279;AK225390;AK290433;AK296187;AMYH01009485;BC013586;BC015154;BC128412;BF984334;BG323695;BI254784;BT009858;CF618983;CH471106;J03075;NG_009300;NM_001001329;NM_002743;U50326;Z36798 AAA52493;AAA98668;AAF66686;AAH13586;AAH15154;AAI28413;AAP88860;BAF83122;BAG58917;EAW84215;EAW84216;EAW84217;EAW84218;EAW84219;NP_001001329;NP_002734;P14314 Hs.610830 1677352 RH79661 AGE-R2;G19P1;PCLD;PKCSH;PLD1 AGE-binding receptor 2;PKCSH;glucosidase 2 subunit beta;glucosidase II subunit beta;glucosidase II, beta subunit;hepatocystin;protein kinase C substrate 60.1 kDa protein heavy chain;protein kinase C substrate, 80 Kda protein APPROVED protein-coding ENSG00000130175 9411 03518 174050;177060 REVIEWED 7206931 PRKG1-AS1 PRKG1 antisense RNA 1 10 54056608 54073888 - 12477932 100506939 ABBA01052510;AC009986;AC027118;AL928686;AMYH01002742;BC039504;BC050034;NR_038277 Hs.584791;Hs.637806 1742251;2152592 GDB:193872;RH70960 miscrna 45029 VALIDATED 5128747 PRKRIRP1 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1 X X X q13.2 73900133 73902810 - 73533261 73536110 - 73616707 73619385 - 728748 ABBA01059569;ABBA01059570;AC004073;AL138891;AMYH01022614;NG_022612 pseudo 39563 INFERRED 5129376 PRKRIRP10 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 10 13 13 30862895 30864420 + 49807010 49808535 + 100422715 ABBA01051015;AL137000;NG_024925 pseudo 39741 INFERRED 5128955 PRKRIRP2 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 2 3 3 86808459 86811217 + 86061711 86064469 + 100422711 ABBA01031089;AC107024;AMYH01013323;NG_025711 pseudo 39566 INFERRED 5129010 PRKRIRP3 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3 10 10 10 q21.1 47433935 47436295 + 53840901 53843264 + 54170895 54173255 + 399774 ABBA01052512;AC009986;AMYH01002742;NG_022179 pseudo 39567 INFERRED 5128996 PRKRIRP4 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 4 11 11 11 p14.3 23636599 23638961 + 23456187 23458555 + 23499614 23501976 + 100129382 ABBA01061007;AC100767;AMYH01003442;NG_021813 pseudo 39568 INFERRED 1316893 PRKRIP1 PRKR interacting protein 1 (IL11 inducible) 7 7 7 q22.1 97049115 97079410 + 101823809 101854134 + 102036804 102067129 + 737633;6480464 12477932 16344560;16189514;14702039;12679338;15146077;21832049 79706 B4DGM2;E9PC43;Q9H875 ABBA01011285;ABBA01011286;ABBA01011287;AC073517;AC093668;AK023964;AK097289;AK124753;AK294664;AL833837;AMYH01017770;BC014298;CA866825;CH471197;DA227367;NM_024653 AAH14298;ABM84094;ABM87465;BAB14742;BAG57833;CAD38697;EAW50241;EAW50242;EAW50243;NP_078929;Q9H875 Hs.722104 1699418;2125069;2219568;5022322;5491455 D11S2560;MARC_13815-13816:1025293742:3;PRKRIP1__5584;RH103300;SHGC-57563 C114;FLJ13902;FLJ40957;KRBOX3 KRAB box domain containing 3;OTTHUMP00000212401;OTTHUMP00000212403;PRKR-interacting protein 1;likely ortholog of mouse C114 dsRNA-binding protein protein-coding ENSG00000128563 21894 11460 VALIDATED 5128998 PRKRIRP6 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6 13 13 13 q12.13 7876582 7879498 + 25705383 25708452 + 26808350 26811266 + 100128764 ABBA01007913;AL138966;AMYH01004983;NG_011462 pseudo 39570 INFERRED 5128954 PRKRIRP7 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 7 8 79672180 79674666 - 100422712 ABBA01004082;AC083837;AMYH01018814;NG_026040 pseudo 39574 INFERRED 5128997 PRKRIRP5 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5 6 6 6 p24.2 12742899 12745096 + 11622447 11624594 + 11514425 11516622 + 100129074 ABBA01022103;AL445430;AMYH01016084;NG_022344 pseudo 39569 INFERRED 5129006 PRKRIRP8 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 8 1 1 1 q43 214189390 214191503 - 238999341 239002966 - 240932721 240934834 - 645939 ABBA01033239;AL365184;AMYH01001875;NG_022760 1651229;1796688;2122930;2166400 G29229;G34863;RGS7_1815;SHGC-32119 pseudo 39572 INFERRED 5128994 PRKRIRP9 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 9 4 4 4 p12 45775461 45778246 - 45020019 45026505 - 45325268 45328045 - 100131309 ABBA01014314;AC108026;AMYH01014150;NG_022010 pseudo 39573 INFERRED 6481410 PRKX-AS1 PRKX antisense RNA 1 100873944 AC007685 APPROVED miscrna 40479 733228 PRKG2 protein kinase, cGMP-dependent, type II 4 4 q13.1-q21.1 82228861 82345239 - 82009837 82126215 - 1580863;6480464;6907045 8607838;18678579;18606955;18391951;18262053;15555551;12764134;12571245;12477932;12054676;11278298;11076863;10531334;9535793;7543493;7498513;7493990;6547441;16990611;19343178;19359370;19543319;20379614;22791569;22012247;19953087;22303795;22174851;22427012;22556146;22939624;23449627;22940826 5593 B7ZA25;E7EPE6;Q13237 ABBA01063411;ABBA01063412;AC098819;AC139722;AK296979;AK297673;AK316140;AMYH01014349;CH471057;D70899;NM_006259;X94612 AAI11598;BAA18934;BAG59521;BAG60035;BAH14511;CAA64318;EAX05867;NP_006250;Q13237 Hs.570833 1649111;2116606;2137391;2150498;2156890;2179230;2219566 AFM318ZC9;D4S1381;D4S299;PRKG2__5583;SHGC-51140;SHGC-51635;STS-X94612 PRKGR2;cGKII OTTHUMP00000160807;cGK 2;cGK2;cGMP-dependent protein kinase 2;cGMP-dependent protein kinase II;protein kinase, cgmp- dependent, type ii protein-coding ENSG00000138669 9416 09034 601591 PROVISIONAL 1353247 PRKXP2 protein kinase, X-linked, pseudogene 2 X q13.1 69098181 69098580 - 5615 AF003528;AMYH01022521;NG_032178 pseudo 9443 INFERRED 1351417 PRKXP1 protein kinase, X-linked, pseudogene 1 15 15 q26.3 98910754 98917520 - 101093330 101099896 - 14702039;9154127 441733 ABBA01020536;AC027020;AK095793;AMYH01006971;NR_073405;Y10481;Y10483 Hs.12250 1335905;1652801;1760311;1762101;5015961;5112659 D15S1477;D15S87;DXS1121;SHGC-146001;SHGC-31633;STS-N39117 pseudo 9442 VALIDATED 1319072 PRKDC protein kinase, DNA-activated, catalytic polypeptide This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010] 8 8 q11 48848222 49035296 - 48685669 48872743 - 1580863;1599202;5133270;6480464;6484113;6907045 9122213;19478084 21037379;18451257;18449888;18426604;18422577;18415044;18270197;18172300;18158334;17963495;17932067;17786349;17786318;17764108;17593081;17526517;17441731;17389609;17287830;17242407;17241822;17196815;17189255;17081983;16874298;16857680;16785234;16759233;16713581;16600297;16566590;16565220;16540648;16520097;16510122;16397295;16314509;16046194;16001975;16000400;16000298;15936993;15811628;15758953;15723802;15698568;15677476;15668400;15668230;15640154;15635413;15592499;15574326;15520013;15493013;15456891;15389585;15381073;15377652;15353130;15324660;15313891;15302935;15286704;15279776;15262962;15258142;15163725;15123719;15071507;14966265;14766968;14744996;14734805;14704337;14654699;14627815;14612514;14556663;12897153;12756247;12750264;12672807;12547193;12519782;12509254;12477932;12379113;12231622;12186630;12171929;12065055;11955432;11904432;11889123;11883897;11867762;11801738;11790298;11749722;11739746;11731442;11709713;15194694;9442054;7671312;12023295;12065431;19451221;19351595;19237606;19198648;19181665;19144640;19092295;19075392;19074885;19071136;19021771;18957425;18952587;18950845;18922151;18789131;18728186;18710952;18644989;18644470;18550272;18508926;18505846;11551930;11418067;11406603;11279128;11160753;11158303;11101529;11070027;11030616;10951572;10823961;10747897;10673501;10567342;10547363;10470151;10467406;10464290;10446239;10441130;10213687;10207052;10064605;10026262;9774685;9766667;9765199;9748231;9722660;9679063;9632806;9586635;9525578;9435225;9430729;9398855;9372844;9363941;9362500;9325337;9312071;9295339;9284934;9139719;9038175;9035691;8917110;8804412;8464713;8422676;8407951;8364539;7638222;7594449;2507541;2247066;1597196;16075307;15875659;16751065;12393188;10608806;9914162;16221682;9488450;11000264;15678105;15664519;18247557;19918261;21145461;21319273;22366412;22753480;22404984;22499342;22586326;17389650;20590474;20610542;20111054;15613478;15634916;15671175;18258596;18406329;17213819;20427287;20562859;20936779;20972425;20219974;20966071;19661379;19666485;19833092;20813000;16449650;16603769;16794079;19394292;20801936;20878914;21175350;18799040;19697154;15190070;16541024;17148452;17308091;17626748;17991316;18246802;19270065;19303849;19341095;19444312;19467273;19573080;19589246;19672258;19773279;19781633;19815090;19851285;20003485;20023628;20065038;20085707;20157594;20204287;20205745;20379614;20496165;20522537;16166097;16226712;20711232;21042724;21108935;20479123;21300785;18026119;19624897;21214942;21188139;21182205;22863883;23022380;20356835;20394854;20668194;21209461;21487018;21330363;16335966;20504901;21450944;21559021;21576354;15161933;20360068;21081666;21979916;22242598;16196087;17314511;20618440;21731742;21875946;10750018;22939629;19596686;21905307;21679440;21346760;21969602;22298787;22198295;18781797;21415862;21987572;22027841;22634101;21139048;21549307;21693764;21750982;21773671;21890473;21906983;21963094;22139836;21671477;21723633;21775006;20080577;21907836;22131882;22145905;22343725;19224683;18160036;21075794;22009179;22190353;22310661;19322201;21151955;21575865;21941773;15140983;15385968;16263121;17110338;19738201;19805454;22623428;22751105;23000965;23098447;23438482;8760815;22923485;22332739;17400507;22184063;15147269;19380743;19826009;21504906;22040967;22053931;22174317;22190034;22337587;22505724;22815474;22952844;23183621;23449453;10713094;22825692;23001845;23108991;23322783;23325849;23398456;18303054;23098854 5591 E7EUY0;F5GX40;H0YG84;Q9UME3 AB052953;AB208860;ABBA01041640;ABBA01041641;ABBA01041642;ABBA01041643;AC021236;AC103686;AK296833;AMYH01018702;AY030284;AY316117;BC017494;BC024963;BC037968;CH471068;L27425;NG_023435;NM_001081640;NM_006904;U34994;U35835;U47077;U63630;U90415 AAA79184;AAA79244;AAB39925;AAB51722;AAC50210;AAC52019;AAK40350;AAP69525;BAB79635;BAD92097;BAG59403;EAW86680;EAW86681;EAW86682;EAW86683;NP_001075109;NP_008835;P78527 Hs.491682 1717093;1734114;1735736;1771558;1771720;1792274;1792276;1792278;1792280;1794906;1798020;2128311;2140364;2147263;2152439 BCD1153;D8S1212;D8S1353E;D8S485;EST197660;G29848;PMC140533P4;PMC140533P5;PMC140533P6;PMC140533P7;PMC84245P1;PRKDC_2296;RH121464;RH69034;STS-N27515 DNA-PKcs;DNAPK;DNPK1;HYRC;HYRC1;XRCC7;p350 DNA-PK catalytic subunit;DNA-dependent protein kinase catalytic subunit;hyper-radiosensitivity of murine scid mutation, complementing 1;p460 APPROVED protein-coding ENSG00000253729 9413 02941 600899 REVIEWED 1322442 PRKG1 protein kinase, cGMP-dependent, type I Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011] 10 10 q11.2 52420951 53725280 + 52750911 54058110 + 1580863;6480464;6484113;6907045 19656393;10851246;2792381;18029348;19023132;18983522;18945831;18782776;18757735;18617565;18593937;18519826;18496125;18194177;17975119;17904578;17601797;16632465;16407222;16344560;16331690;16249377;16166082;16131665;15917860;15711749;15556942;15489334;15280395;15164054;15107017;15051728;14983059;14702039;14679200;14608379;14532276;12933804;12855709;12609995;12574812;12571245;12480535;12477932;12237340;12175859;12119292;12082086;11884369;11309393;11278298;11175347;10922374;10724174;10681529;10671526;10601315;10567269;10449420;10051666;9829964;9687510;9192852;8688081;8663267;21526164;8613202;8380342;8182057;8132598;7589584;2168396;1544322;1377674;9308888;21479273;20371672;19913121;20600009;20628086;20732627;19961855;20826808;15632203;16990611;20567233;16385451;19023099;19424179;19487814;19851296;19996273;20006992;20043968;20068229;20182759;20198315;20348951;20379614;21160032;21697861;15851553;21402151;21414799;21451103;23066013;15192100;22791569;21563174;22095901;12082111;22293199;21907864;22580283;22806632;23251661;23382691 5592 B1ALS0;Q13976;Q5JP05;Q5SQU3 ABBA01052494;ABBA01052495;ABBA01052496;ABBA01052497;ABBA01052498;ABBA01052499;ABBA01052500;ABBA01052501;ABBA01052502;ABBA01052503;ABBA01052504;ABBA01052505;ABBA01052506;ABBA01052507;ABBA01052508;ABBA01052509;ABBA01052510;AC009986;AC022025;AC022537;AC026228;AC027118;AC068062;AC069079;AC073584;AK093436;AK300110;AK313416;AL157399;AL391378;AL596105;AL599933;AL607031;AL731537;AL928686;AMYH01002737;AMYH01002738;AMYH01002739;AMYH01002740;AMYH01002741;AMYH01002742;BC062688;BC127090;BQ445850;BX097700;BX952280;CD723759;CH471083;D45864;DA150150;DA646702;DA915933;DB138350;DC310312;DC379897;DC381245;EF560730;NG_029982;NM_001098512;NM_006258;Y07512;Z92867;Z92868 AAH62688;AAI27091;ABQ59040;ACT64369;ACT64370;BAA08297;BAG52715;BAG61905;CAA68810;CAB07436;CAB07437;EAW54140;EAW54141;NP_001091982;NP_006249;Q13976 Hs.407535 1336781;1341352;1645600;1659871;1660955;1665921;1668135;1706742;1707584;1708126;1712006;1712591;1714333;1716245;1717933;1742251;1749817;1750197;1752655;1752859;1766999;1777997;1781924;1848728;1850668;2114332;2123772;2134762;2135864;2141145;2146591;2150729;2152592;2162299;2219564;7185445;7187812 AFM308XA9;D10S1195;D10S1458;D10S2283;D10S2341;D10S567;D10S568;G09557;G10176;G17455;G17500;GDB:193872;PRKG1__5582;RH118458;RH119946;RH120304;RH121149;RH122793;RH46235;RH70960;SHGC-106527;SHGC-106825;SHGC-111555;SHGC-111919;SHGC-112296;SHGC-152619;SHGC-36560;SHGC-80830;SHGC-81463;SHGC-84604;STS-H95359;STS-H95817;STS-H97927;WI-11512;WI-15606 1;CGKI;DKFZp686K042;FLJ36117;MGC71944;PGK;PKG;PRKG1B;PRKGR1B;cGK;cGK 1;cGK1;cGKI-BETA;cGKI-alpha OTTHUMP00000019618;OTTHUMP00000019619;cGK 1;cGK1;cGMP-dependent protein kinase 1;cGMP-dependent protein kinase I;protein kinase, cGMP-dependent, regulatory, type I, beta APPROVED protein-coding ENSG00000185532 9414 08910 176894 REVIEWED 1320154 PRKRIR protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 11 11 11 q13.5 73368809 73399688 - 75738652 75769528 - 76061004 76091880 - 1580863;6480464 9447982;15489334;14702039;14695705;12477932;12384512;10542257;9819435;8576172;1677563;11555640;20588308;20628624;18029348;21910972;21139048;21906983 5612 B4DS64;E9PSI2;O43422 ABBA01017449;ABBA01017450;AF007393;AF081567;AK001522;AK291843;AK299594;AL049970;AMYH01003821;AP002360;BC021992;BC110304;BC117138;BC117140;BX641144;CH471076;NM_004705 AAC39564;AAG01570;AAH21992;AAI10305;AAI17139;AAI17141;ADR83399;BAF84532;BAG61526;CAB43226;EAW74991;EAW74992;EAW74993;NP_004696;O43422 Hs.503315 1851561;5016478;5019847;5024756;5037552;5124907 A008B11;D8S2279;G34946;GDB:434012;RH66969;RH80030 DAP4;MGC102750;P52rIPK;THAP0;THAP12 52 kDa repressor of the inhibitor of the protein kinase;58 kDa interferon-induced protein kinase-interacting protein;OTTHUMP00000229232;THAP domain containing 12;THAP domain-containing protein 0;death-associated protein 4;inhibitor of protein kinase PKR;p58IPK-interacting protein protein-coding ENSG00000137492 9440 09567 607374 PROVISIONAL 1353983 PRKX protein kinase, X-linked This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010] X X p22.3 3532411 3641661 - 3522384 3631675 - 1580863;6480464;6907045 10026146;16491121;7633447;17980165;15489334;12477932;12082174;9302280;15879576;19576564;9154127;9860982;21684272;22020623;19953087;21971312 5613 P51817 ABBA01044324;ABBA01044325;ABBA01044326;ABBA01044327;ABBA01044328;ABBA01044329;ABBA01044330;ABBA01044331;ABBA01044332;ABBA01044333;ABBA01044334;ABBA01044335;ABBA01044336;ABBA01044337;ABBA01044338;ABBA01044339;ABBA01044340;ABBA01044341;ABBA01044342;AC007685;AMYH01022018;AMYH01022019;AMYH01022020;BC041073;BE675757;CH471074;DN996851;DN997580;HI635309;NG_016716;NM_005044;X85545 AAH41073;ACE86927;ACE87614;CAA59733;CBX55118;EAW98726;EAW98727;EAW98728;NP_005035;P51817 Hs.390788 1682788;1728903;1760311;1798024;2116093;2180174;2187146;5015404;5015621;5015961;5020740;5024413;5037552;5112659 D11S3732;D15S1477;D8S2279;DXS1121;DXS7603;G42689;L17705;L17809;L17877;PRKX_2247;RH47892;RH70931;SHGC-31633;SHGC-3948 PKX1 OTTHUMP00000022861;OTTHUMP00000022862;cAMP-dependent protein kinase catalytic subunit PRKX;protein kinase PKX1;protein kinase X;protein kinase X-linked;serine/threonine-protein kinase PRKX APPROVED protein-coding ENSG00000183943 9441 02097 300083 REVIEWED 1351248 PRKY protein kinase, Y-linked, pseudogene This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010] Y Y Y p11.2 1967088 2074677 - 7202014 7309588 + 7142013 7249588 + 1580863;6480464 9154127;19474452;15489334;12815422;12477932;9889101;9302280;9088640;7633447 5616 O43930 AA767129;ABBA01034807;ABBA01034808;ABBA01034809;ABBA01034810;ABBA01034811;ABBA01034812;ABBA01034813;ABBA01034814;ABBA01034815;ABBA01034816;ABBA01034817;ABBA01034818;AC007284;AC010143;AI929361;BC074851;BC074852;BG698237;CH471163;NR_028062;Y10484;Y10485;Y13927;Y15801 AAH74851;AAH74852;CAA71508;CAA71509;CAA74244;CAA75792;EAW59124;EAW59125;O43930 Hs.584730 1688122;1731098;1798024;2113602;2116093;2156608;2188249;2188971;2188973;5015404;5020740;5021228;5022867;5024413;5095338;5095340;5095342;5095344;5110447;5116856;5116858;5116860;5116862 D10S300;DYS264;G66010;G66013;G66298;GDB:312794;L17705;L17809;L17877;PRKX_2247;PRKY-2;PRKY-3;PRKY-4;PRKY-5;PRKY-7;RH69540;SHGC-3948;sY1319;sY1817;sY3218;sY3219;sY3220;sY3221 PRKXP3;PRKYP APPROVED pseudo ENSG00000099725 9444 08949 400008 REVIEWED 1315476 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] 2 2 q31.2 179004395 179024110 - 179296141 179315958 - 1580863;6480464;6484113;7240710 9687506;17452327;18936160;18420150;18243799;17353931;17125937;17081983;16982605;16861340;16424907;16169070;15815621;15489334;15299031;14702039;12874289;12477932;12368348;11985496;11526399;11256614;11230166;10336432;9010216;8125298;21145461;22214662;22473766;11238927;19441135;19580324;19604093;20379614;20468071;19913121;20588308;20628086;20628624;21501829;21526770;21595004;22961479;22990118;21882225;22586326;21900206;21903422;21988832;21139048;21628590;22025453;21790829;22505724;23472185;23550157 8575 B4DJC7;C9JMM3;F8WEG8;G5E9Q4;O75569 ABBA01062244;AC009948;AF072860;AF083033;AK093360;AK223107;AK290601;AK296019;AL136615;AL833867;AMYH01011305;AY251164;BC009470;BG827125;BT007243;CH471058;CR533525;NG_009053;NM_001139517;NM_001139518;NM_003690 AAC25672;AAD33099;AAH09470;AAP20061;AAP35907;AAX88882;ACE86553;ACE87235;BAD96827;BAF83290;BAG58789;CAB66550;CAD38725;CAG38556;EAX11034;EAX11035;EAX11036;EAX11037;NP_001132989;NP_001132990;NP_003681;O75569 Hs.570274 1649803;1679872;1698952;1734818;2160053;2165133;2165135;2171372;2171374;2171804 A005A41;A005Y08;D2S1579E;G20228;G20590;RH103045;RH16629;RH47285;RH65973;SGC32052 DYT16;HSD14;PACT;RAX OTTHUMP00000163394;OTTHUMP00000205652;OTTHUMP00000225032;PKR-associated protein X;PKR-associating protein X;interferon-inducible double stranded RNA-dependent protein kinase activator A;protein activator of the interferon-induced protein kinase;protein kinase, interferon-inducible double stranded RNA-dependent activator APPROVED protein-coding ENSG00000180228 9438 04573 603424;612067 REVIEWED 1345034 PRM3 protamine 3 16 16 16 p13.3 11536532 11536843 - 11273850 11274953 - 11367141 11367452 - 729500;6480464 8720108 16581810;9827065;18978792;19602509;23568457;22190364 58531 Q9NNZ6 ABBA01006810;AC009121;AMYH01007152;CH471112;NM_021247;Z46940 AAI72319;CAB92526;EAW85160;NP_067070;Q9NNZ6 Hs.259636 gene 4;protamine-3;sperm protamine P3 protein-coding ENSG00000178257 13732 17909 PROVISIONAL 1352450 PRLH prolactin releasing hormone 2 2 2 q37.3 232189067 232189668 + 238139956 238140557 + 238475217 238475818 + 729520;1580863;1641829;6480464 9607765;15854142 15891064;15489334;12477932;12126742;11523913;11030716;10599733;10498338;10475064 51052 P81277;Q53QV7 AB015419;ABBA01042587;AC104667;AMYH01011598;BC069081;BC069284;CH471063;NM_015893 AAH69081;AAH69284;AAY24046;BAA29027;EAW71117;NP_056977;P81277 Hs.247710 5492471 UniSTS:481218 PRH;PRRP OTTHUMP00000164414;preproprolactin-releasing peptide;prolactin-releasing hormone;prolactin-releasing peptide protein-coding ENSG00000071677 17945 04046 602663 PROVISIONAL 736187 PRL prolactin This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011] 6 6 p22.2-p21.3 22395459 22405709 - 22287473 22303082 - 1580863;1642556;1642558;1642557;1642576;1642555;1642559;1642560;1642574;1642575;6480464;6907045 17119344;16303834;16617309;17260475;17626900;8388614;3888755;17316702;17303669 20886416;10854700;7221563;12552091;8421089;19574343;19555049;19491263;19404952;19401036;19384991;19115200;19086053;18771565;18647802;18636124;18556224;18432585;18403642;18252943;18207134;18156207;18063946;18053149;18022314;18006851;18006630;17984948;17785459;17785327;17607310;17590551;17587788;17564716;17550976;17548836;17507624;17468404;17351784;17289576;17260098;17187171;16981141;16848233;16807649;16630538;16608881;16507890;16434456;16396693;16384849;16378242;16214922;16187706;16133148;16103113;16045928;15993365;15645137;15504038;15489334;15218000;15192082;15063762;15031321;15026085;14984591;14647416;14645190;14580717;14565846;12928232;12729745;12687277;12679477;12668883;12559630;12524085;12485910;12477932;12459032;12445833;12154211;12036601;11997178;11923474;11721703;11721702;11721699;11721698;11721696;11721695;11721694;11721693;11721692;11721691;11665977;11437600;10966654;10935542;10690937;9626554;9266104;9220021;9207433;8015553;6325171;6260780;6146607;3595901;2567059;2050267;1707126;1697858;1601394;1126929;925136;743954;11162551;21664429;22732335;21623375;20587610;21164080;21226500;20163720;21122264;20823101;20889499;17884785;18752070;19051037;19451414;19551610;19727442;19851340;19897676;20032052;20053995;20080972;20124477;20352225;20424473;20547007;7984244;20399783;20716560;20734064;20846890;20307875;20427283;20655519;20647249;20885978;21068074;21146499;18843963;21277631;20962042;21163806;21262884;1332868;20825378;21177637;21331754;21785216;22729360;21524385;21554911;21125332;21592821;21823053;21774041;18425437;21720444;22193237;21719533;21941183;21971318;22392353;22495675;22293228;22081226;22689615;21500962;21831600;22094377;22205628;22363612;22733751;22723625;23619365;23284291;21305610;18051367;22577091;23085263;22412226;22420298;23530035 5617 P01236;Q5THQ0 ABBA01022298;AF068859;AL023883;AMYH01016142;BC015850;BC088370;CD106243;CH471087;D00411;DQ839492;GQ305133;M29386;M58594;NG_029819;NM_000948;NM_001163558;U75583;V00566;X00368;X00540;X54393;X54394 AAA60173;AAB70858;AAD12943;AAH15850;AAH88370;AAO87820;ABI63353;ABM84054;ABM87406;ACT52574;BAA00312;CAA23829;CAA25108;CAA25214;CAA38263;CAA38264;CAA38265;EAW55435;NP_000939;NP_001157030;P01236 Hs.1905;Hs.735971 1652529;1760143;1773298;2113840;2180008;2217850 D6S1831;PRL;PRL_2831;RH46707;RH67913;SHGC-132039 OTTHUMP00000017727;decidual prolactin;prolactin APPROVED protein-coding ENSG00000172179 9445 07180 176760 REVIEWED 732732 PRLHR prolactin releasing hormone receptor PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008] 10 10 q26.13 120342906 120345150 - 120352916 120355160 - 633970;1580863;1641829;1641832;6480464 8666380;15854142;14691196 9607765;16344560;15885496;15752583;15489334;15164054;12716769;12477932;12417311;12126742;11923475;11641419;11030716;10498338;10475064;19913121;20628086;22158540;23284171;22778259 2834 A5JUU5;P49683 AB015745;AB048946;ABBA01062932;AK290461;AK313269;AL356865;AL528009;AMYH01003107;BC095539;BC101490;BC101492;BX471829;CH471066;DA262254;EF577402;NM_004248;U32672 AAC50504;AAH95539;AAI01491;AAI01493;ABQ52422;BAA31159;BAB83030;BAF83150;BAG36078;EAW49413;EAW49414;NP_004239;P49683 Hs.248119 1769110;1797592;5491724;5492559;5493515 GPR10_2105;PRLHR;RH71223;UniSTS:481643;UniSTS:486969 GPR10;GR3;MGC126539;MGC126541;PrRPR G protein-coupled receptor 10;G-protein coupled receptor 10;OTTHUMP00000020584;hGR3;prRP receptor;prolactin releasing peptide receptor;prolactin-releasing hormone receptor;prolactin-releasing peptide receptor APPROVED protein-coding ENSG00000119973 4464 02937 600895 VALIDATED 737276 PRM2 protamine 2 Protamines are the major DNA-binding proteins in the nucleus of sperm, and package the DNA in a volume less than 5% of a somatic cell nucleus (summarized by Cho et al., 2001 [PubMed 11326282]). See PRM1 (MIM 182880).[supplied by OMIM, Jul 2010] 16 16 p13.2 11276994 11277838 - 11369493 11370337 - 1580863;6480464 2081589;18692784;18478156;18314125;18309899;18292846;18292840;17113348;17011555;16989827;16632464;15670415;15489334;12569175;12524352;12477932;11869379;11686187;10898591;10659848;9795985;9282840;9239704;8513794;8024562;7983046;7714151;3956509;3527226;3412906;3403514;2384091;2370044;1907596;1889406;22472940;19602509;19863670;20378615;11326282;23568457;21029114;21317160;22190364;22104739 5620 P04554;Q1LZN1;Q6ZMM0 AB281137;ABBA01006810;AC009121;AF215713;AK130957;AK131573;AK292447;AK311798;AMYH01007152;BC005303;BC042671;BC066338;CH471112;M60332;NM_002762;U15422;X07862;Z46940 AAA63250;AAC50487;AAF34632;AAH05303;AAH42671;AAH66338;ADZ15653;BAD18705;BAF36638;BAF85136;BAG34741;CAA30710;CAA87066;EAW85158;EAW85159;NP_002753;P04554 Hs.2324 1643876;1792446;5117146 GDB:438999;PMC151395P1;SHGC-12339 CT94.2;FLJ27447 cancer/testis antigen family 94, member 2;protamine-2;sperm histone P2;sperm protamine P2 APPROVED protein-coding ENSG00000122304 9448 01691 182890 VALIDATED 1350304 PRM1 protamine 1 16 16 p13.2 11282194 11282693 - 11374693 11375192 - 1580863;6480464 2081589;18692784;18478156;18390561;18381856;18314125;18309899;18292846;18292840;17494104;17011555;16989827;16112646;15489334;14701833;12569175;12477932;10659848;10390541;8662749;8466000;8263493;7983046;7865133;7721781;4027356;3658707;3527226;2613245;2370044;8647104;19602509;19863670;20378615;22574365;23568457;21317160;21029114;22472940;22190364;23251661;22104739;23079002 5619 P04553;Q3MN80 AB281136;ABBA01006810;AC009121;AF215707;AK311987;AMYH01007152;AY651260;BC003673;BT006746;CD360017;CH471112;HC007228;M29706;M60331;NM_002761;S68144;U15422;Y00443;Z46940 AAA60191;AAA63249;AAB29321;AAC50486;AAF34620;AAH03673;AAP35392;AAX35688;ABM83413;ABM86624;BAF36637;BAG34926;CAA68499;CAA87065;CBH19419;EAW85157;NP_002752;P04553 Hs.2909 1669403;1791764 PMC124363P1;SHGC-12701 CT94.1;P1 OTTHUMP00000115605;cancer/testis antigen family 94, member 1;cysteine-rich protamine;sperm protamine P1;testis specific protamine 1 protein-coding ENSG00000175646 9447 01688 182880 VALIDATED 1601836 PRMT10 protein arginine methyltransferase 10 (putative) 4 4 4 q31.23 145880642 145926389 - 148778983 148824730 - 148559533 148605280 - 6480464 19300908;12477932;17708529;14702039;21906983;21963094;21987572;23251661 90826 B3KU92;D6REN0;Q6P2P2 ABBA01070059;AC093835;AK096703;AK128483;AK292904;AL137452;AMYH01014602;BC004337;BC021250;BC064403;CH471056;HH961802;NM_138364 AAH04337;AAH21250;AAH64403;BAC87459;BAF85593;BAG53354;CAB70744;CBX51374;EAX05011;EAX05012;EAX05013;EAX05014;NP_612373;Q6P2P2 Hs.591692 1675535;1754637;2140266 RH93088;SHGC-132984;SHGC-58310 FLJ46629 OTTHUMP00000220097;putative protein arginine N-methyltransferase 10 protein-coding ENSG00000164169 25099 14280 PROVISIONAL 730871 PRLR prolactin receptor This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011] 5 5 p13.2 35099985 35266334 - 35048861 35230823 - 1580863;6480464;6907045 21591677;10585417;7984244;15618286;9009200;19574343;19276348;19273600;19153125;19086053;19056863;18779591;18681966;18636124;18613925;18596217;18573876;18316598;18252943;18207134;18081308;18053149;17785459;17525486;17177141;16785991;16740656;16651265;16556730;16434456;16381901;16278670;16103113;15700312;15504038;15489336;15489334;15135067;15119991;15082796;14702039;14522994;12937675;12819209;12679477;12668872;12559630;12477932;12477494;12391112;12351696;12021177;11997178;11721697;11713228;11518703;11328862;11076863;10991949;10966654;10772872;10455112;10221598;10084611;9888587;9626554;9556914;9544990;9341613;9202403;8550784;7768923;7768908;7706371;7534043;6331435;6278192;2558309;2369845;1617425;1559983;20634197;20655519;20453834;19739126;19897676;19906835;20032052;20053995;20214633;20379614;20547007;20889499;20962278;20846877;20427283;20716560;20734064;20875426;12580759;21068074;21144038;21238538;21670145;20826546;21510945;21775057;20335148;21310852;20658264;21125332;21816901;22081226;21989556;22325776;21470416;22606260;23159947;21305610;22577091;23192981 5618 D1MDP1;D6R9E1;D6R9P5;D6R9V7;D6RAN9;D6RC67;D6RD41;D6RJC8;Q8TD76;Q9UHJ5 ABBA01039259;ABBA01039260;ABBA01039261;AC010368;AC091851;AF091870;AF166329;AF214012;AF349939;AF416618;AF416619;AF492470;AF493068;AF493069;AF512796;AI022810;AI041980;AI079645;AK001889;AK023665;AK313270;AMYH01015023;AMYH01015024;AY062295;BC059392;BQ023302;BX538149;CH471119;GU133399;M31661;NG_029042;NM_000949;NM_001204314;NM_001204315;NM_001204316;NM_001204317;NM_001204318;NR_037910;S75672;S78505 AAA60174;AAB33685;AAB34470;AAD32032;AAD49855;AAH59392;AAK32703;AAL23914;AAL23915;AAL40855;AAM11660;AAM11661;AAM18048;ACZ04321;BAG36079;CAL38328;CAL38451;EAW55913;EAW55914;EAW55915;EAW55916;EAW55917;EAW55918;EAW55919;NP_000940;NP_001191243;NP_001191244;NP_001191245;NP_001191246;NP_001191247;P16471 Hs.368587;Hs.602914 1687333;1697116;1776135;1781104;1781196;2121652;2124480;2157638;7187036 D5S1900;D5S2592;RH102042;RH16173;RH46591;STS-M31661;STS-W35369;human.PRLR hPRLrI OTTHUMP00000115998;OTTHUMP00000221068;OTTHUMP00000221070;OTTHUMP00000221071;OTTHUMP00000221072;OTTHUMP00000221073;PRL-R;delta 4-SF1b truncated prolactin receptor;delta 4-delta 7/11 truncated prolactin receptor;hPRL receptor;prolactin receptor;prolactin receptor delta 7/11;secreted prolactin binding protein APPROVED protein-coding ENSG00000113494 9446 01457 176761 REVIEWED 5683651 PRMT5-AS1 PRMT5 antisense RNA 1 14 23388509 23392616 + 14702039 100505758 ABBA01061291;AK093277;AL132780;AMYH01005600;DB548852;XR_110265;XR_111413;XR_172031 Hs.655707 1648366;2119662 A002Q41;G21627 APPROVED miscrna ENSG00000237054 40533 MODEL 1605435 PRMT2 protein arginine methyltransferase 2 21 21 21 q22.3 33168696 33198017 + 46879955 46909291 + 48055507 48085155 + 6480464;7242552 21074527 12039952;9545638;17587566;16648481;16189514;15489334;14702039;14667819;12477932;11513728;10830953;9196002;9110174;8619474;8125298;16616919;19161160;19405910;15146197;21851090;21820040;22179613;22093364 3275 A8MXR3;B7U630;B7U631;B7U632;H7C2H9;P55345;Q5U7D4 ABBA01021772;AF059319;AK055950;AK095641;AK123352;AK123650;AK124494;AK223157;AK312573;AL109794;AL833586;AMYH01012341;AMYH01012342;AP000339;AP000340;AY786414;BC000727;BC038765;BC100026;BF683143;BQ421001;CB529922;CH471079;CN293838;CR541804;FJ436410;FJ436411;FJ436412;HH961836;NM_001242864;NM_001242865;NM_001242866;NM_001535;NM_206962;U79286;U80213;X99209 AAB48437;AAB50221;AAG43116;AAH00727;AAH38765;AAI00027;AAV48568;ABM83052;ABM86245;ACJ66866;ACJ66867;ACJ66868;BAD96877;BAG53931;CAA67599;CAB52454;CAG46603;CBX51391;EAX09258;EAX09259;EAX09260;EAX09261;EAX09262;EAX09263;EAX09264;EAX09265;NP_001229793;NP_001229794;NP_001229795;NP_001526;NP_996845;P55345 Hs.154163 1674836;1686776;1696996;1854142;1854148;1855904;2121636;2132551;2141887;2182282;5020924;5092618;5092968;5115063;5127579 A001T33;A005B33;A007B35;A009D14;G19632;G32217;G32442;RH101971;RH69334;RH92547;SHGC-16482;SHGC-33747;SHGC-34143;SHGC-87732;SHGC-87734 HRMT1L1;MGC111373 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1;HMT1 hnRNP methyltransferase-like 1;OTTHUMP00000046525;OTTHUMP00000046526;OTTHUMP00000115881;OTTHUMP00000115882;OTTHUMP00000115884;OTTHUMP00000207831;PRMT2 alpha;PRMT2 beta;PRMT2 gamma;histone-arginine N-methyltransferase PRMT2;protein arginine N-methyltransferase 2 protein-coding ENSG00000160310 5186 09060 601961 VALIDATED 731338 PRMT1 protein arginine methyltransferase 1 This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011] 19 19 q13.3 54872308 54883516 + 50180409 50191707 + 1359044;1300048;1580863;737807;2326123;5128512;6480464;7242552 15866169;10848611;17163421;16394250;21074527 9029147;8663146;9545638;10749851;19414388;19183483;19170758;19161160;19158082;19144646;19124016;19078953;18700728;18657504;18495660;18316480;17971302;17891136;17848568;17550233;17264152;17052457;16879614;16861234;16713569;16492668;16294047;16294045;16189514;16169070;16159886;15741314;15737635;15364944;15345777;15324660;15186775;15084609;14734530;14583623;12737817;12718890;12529443;12509629;12477932;12183049;12171910;11856371;21653943;22482410;21145461;21319273;22442049;17620599;22451921;22498736;11850402;11448779;11387442;11257227;11152681;11097842;11050077;10899106;10772824;10652299;9891755;8675017;8288564;4924231;11513728;17353931;11483748;15674337;20442406;21242974;21285357;19643181;19682581;12704081;16157300;21172665;16782888;20473859;16980624;17043108;19596784;14966289;16051612;17053781;17643375;19641605;19913501;20064924;20497508;20812326;15899857;15911693;18280497;18285453;18413343;18773938;21184736;21187067;17426288;17846119;23084401;23184937;19405910;21444773;21229402;20614009;23419748;23455922;23455924;22939629;16196087;21697082;21851090;20360068;21081666;22095282;22917032;18781797;21139048;21890473;21900206;21906983;15146197;21965298;22179613;22863883;19738201;21963094;22053931;22614839;22839530;23000965;23187807;23388725;23624934;19101556;23152885;22190034;22505724;22697391;22749861 3276 E9PI83;E9PIE2;E9PIX6;E9PKG1;E9PMW9;E9PMZ2;E9PNR9;E9PQ98;H0YDE4;H7C2I1;Q99874 ABBA01032913;AC011495;AF085918;AF222689;AI193116;AK295973;AK304660;AL711069;AMYH01009916;AMYH01009917;AY775289;BC019268;BC109282;BC109283;BX352789;CH471177;CN264743;CR407608;D66904;DC421815;DN990556;NG_031846;NM_001207042;NM_001536;NM_198318;NR_033397;Y10805;Y10806;Y10807 AAF62893;AAF62894;AAF62895;AAH19268;AAI09283;AAI09284;AAV41837;ABZ92509;BAA11029;BAG58749;BAG65435;CAA71763;CAA71764;CAA71765;CAG28536;EAW52518;EAW52519;EAW52520;EAW52521;NP_001193971;NP_001527;NP_938074;Q99873 Hs.20521 1648107;1676982;1795202;2118737;2119391;5022651 D11S2921;Hrmt1l2;RH65905;RH68301;RH91411;STS-N90422 ANM1;HCP1;HRMT1L2;IR1B4 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2;HMT1 hnRNP methyltransferase-like 2;OTTHUMP00000236172;OTTHUMP00000236176;OTTHUMP00000236178;OTTHUMP00000236179;heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 2;heterogeneous nuclear ribonucleoproteins methyltransferase-like 2 (s. cerevisiae);histone-arginine N-methyltransferase PRMT1;interferon receptor 1-bound protein 4;protein arginine N-methyltransferase 1 APPROVED protein-coding ENSG00000126457 5187 04257 602950 REVIEWED 1604394 PRMT3 protein arginine methyltransferase 3 Type I protein arginine N-methyltransferases (PRMTs), such as PRMT3, catalyze the formation of asymmetric N(G),N(G)-dimethylarginine (ADMA) residues in proteins (Tang et al., 1998 [PubMed 9642256]).[supplied by OMIM, Mar 2008] 11 11 11 p15.1 20541661 20662994 + 20365679 20487349 + 20409076 20530879 + 7242552 21074527 9642256;19158082;16344560;15489334;15334060;15175657;14702039;12477932;10224081;18573314;19913121;20628086;16157300;21059412;19641605;22795084;22863883;22939629;21942715;21139048;21890473;22179613;11257227 10196 E9PLF6;E9PRB4;O60678;Q8WUV3 ABBA01061031;ABBA01061032;ABBA01061033;ABBA01061034;AC025972;AC108005;AF059531;AK125039;AK129984;AK298185;AK300591;AK301449;AK307776;AMYH01003434;BC019339;BC037544;BC047226;BC064831;CA428457;CH471064;DA163907;DB510248;NM_001145166;NM_001145167;NM_005788 AAC39837;AAH19339;AAH37544;AAH64831;ACE86437;ACE87112;BAG60456;BAG62289;BAG62973;EAW68333;EAW68334;EAW68335;EAW68336;NP_001138638;NP_001138639;NP_005779;O60678 Hs.152337 HRMT1L3 HMT1 hnRNP methyltransferase-like 3;OTTHUMP00000231732;OTTHUMP00000231735;heterogeneous nuclear ribonucleoprotein methyltransferase-like 3;heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3;protein arginine N-methyltransferase 3 APPROVED protein-coding ENSG00000185238 30163 11934 603190 VALIDATED 1315338 PRND prion protein 2 (dublet) This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008] 20 20 pter-p12 4650556 4657106 + 4702556 4709106 + 1580863;6480464 10525406;19363267;19129949;18936526;17894227;17390034;17201176;17047093;16889908;16421231;15986038;15933804;15489334;15246873;15203115;15158907;14970845;14745079;12975309;12595265;12586339;12514748;12477932;12399017;12200435;11780052;11734625;11702213;11063595;10825657;10577243;19728151;20379614;17207965;22453181;20981146 23627 Q27H88;Q9UKY0 ABBA01053857;AF086354;AF106918;AF187843;AF187844;AK313404;AL133396;AMYH01011687;AY358985;BC043644;CH471133;DQ408534;EU009729;NM_012409 AAF02424;AAG43448;AAG43449;AAH43644;AAQ89344;ABD63007;ABU40603;ADQ32525;BAG36200;EAX10448;NP_036541;Q9UKY0 Hs.406696 1700094;5022578 D1S1423;RH103660 DOPPEL;DPL;MGC41841;PrPLP;dJ1068H6.4 OTTHUMP00000030169;prion gene complex, downstream;prion-like protein doppel APPROVED protein-coding ENSG00000171864 15748 05039 604263 REVIEWED 1342561 PRO1 progeria 1 (Hutchinson-Gilford type) 353215 9450 1312299 PRMT6 protein arginine methyltransferase 6 The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011] 1 1 p13.3 107400932 107403437 + 107599267 107601916 + 1359044;1580863;6480464;7242552 15866169;21074527 17898714;18079182;11724789;16157300;16600869;18077460;17267505;17176473;16344560;16293633;15596808;15489334;14702039;12477932;11827452;8125298;17169163;22829776;19509293;19754311;20473859;20812326;19405910;23326497;23455924;22863883;22219200;22197933;22449649;19322201;22179613;21988832;23032699;23349634;22777353;22916108;23265702;17415034;18508616;18976462;19726520;21204735;22077140;22673335 55170 B4DNF6;Q96LA8 ABBA01028430;AI754232;AK001421;AK226009;AK295541;AK297898;AL355539;AMYH01000883;AY043278;BC002729;BC013866;BC063446;BC073866;CH471156;DA073209;NM_018137 AAH02729;AAH63446;AAH73866;AAK85733;BAA91681;BAG58450;BAG60218;EAW51248;NP_060607;Q96LA8 Hs.26006 1671434;5493919 Prmt6;WI-15868 FLJ10559;FLJ51477;HRMT1L6 HMT1 hnRNP methyltransferase-like 6;OTTHUMP00000012633;heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6;histone-arginine N-methyltransferase PRMT6;hmt1 hnrnp methyltransferase-like 6 (s. cerevisiae);protein arginine N-methyltransferase 6 APPROVED protein-coding ENSG00000198890 18241 10505 608274 VALIDATED 1601867 PRMT7 protein arginine methyltransferase 7 Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004 [PubMed 15044439]).[supplied by OMIM, Mar 2008] 16 16 16 q22.1 52853382 52899696 + 66902446 66948663 + 68344877 68391169 + 6480464;7242552 21074527 15044439;15494416;19110445;17709427;16051612;15489334;14702039;12477932;11572484;20562859;16344560;18992153;16712791;20700443;17048991;18781797;22241471;22231400;21044950;22179613;22761421 54496 H3BNC0;H3BNS2;H3BPZ8;H3BRD3;H3BRQ9;H3BSS9;H3BTY1;Q9NVM4 AB067520;ABBA01025484;AC020978;AC099521;AK001502;AK022739;AK056647;AK097175;AK304605;AMYH01007756;BC000146;CB140365;CH471092;DA287041;DA648148;NM_001184824;NM_019023 AAH00146;BAA91726;BAB14215;BAB67826;BAG51772;BAG53431;BAG65391;EAW83224;EAW83225;EAW83226;EAW83227;EAW83228;EAW83229;EAW83230;EAW83231;EAW83232;NP_001171753;NP_061896;Q9NVM4 Hs.653193 2135200 SHGC-61160 FLJ10640;KIAA1933 OTTHUMP00000174863;[Myelin basic protein]-arginine N-methyltransferase PRMT7;histone-arginine N-methyltransferase PRMT7;myelin basic protein-arginine N-methyltransferase;protein arginine N-methyltransferase 7 APPROVED protein-coding ENSG00000132600 25557 15174 610087 VALIDATED 5486560 PROB1 proline-rich basic protein 1 5 5 q31.2 138755622 138758784 - 138727635 138730885 - 19240791 389333 E7EW31 ABBA01068638;AC135457;AK303170;AK316483;AMYH01015651;AW576390;NM_001161546 BAG64269;BAH14854;E7EW31;NP_001155018 Hs.729482 C5orf65 hypothetical protein LOC389333;proline-rich basic protein 1;uncharacterized protein C5orf65;weakly similar to basic proline-rich protein APPROVED protein-coding ENSG00000228672 41906 VALIDATED 1605979 PRMT8 protein arginine methyltransferase 8 Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008] 12 12 12 p13.3 5214206 5316768 + 3470686 3573400 + 3490515 3703139 + 6480464 16051612;19060911;18698489;18320585;17925405;15489334;14702039;12477932;16189514;22179613;16713569;17643375;19060904;20379614;21906983;16344560 56341 Q59GT2;Q9NR22 AB209027;ABBA01048777;ABBA01048778;ABBA01048779;AC005831;AC005908;AC005925;AF263539;AK026786;AK093651;AK315619;AMYH01004187;AMYH01004188;AMYH01004189;AMYH01004190;AMYH01004191;AMYH01004192;BC022458;CH471116;DA200375;NM_001256536;NM_019854 AAF91390;AAH22458;ABM83307;ABM86519;BAB15553;BAD92264;BAG37987;EAW88861;EAW88862;NP_001243465;NP_062828;Q9NR22 Hs.504530 1340413;1693876;1693878;1693880;1693898;1717581;1725977;1732347;1733534;1782750;2108155;2136454 D12S1050;D12S188;D12S879;G41244;G42628;G42629;G42630;G42639;G62272;HRMT1L3_8067;RH122096;SHGC-172081 HRMT1L3;HRMT1L4 HMT1 hnRNP methyltransferase-like 3;HMT1 hnRNP methyltransferase-like 4;OTTHUMP00000158607;OTTHUMP00000238205;heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 4;protein arginine N-methyltransferase 4;protein arginine N-methyltransferase 8 APPROVED protein-coding ENSG00000111218 5188 11029 610086 VALIDATED 1353334 PRNT prion protein (testis specific) 20 20 20 p13 4781642 4791028 - 4659928 4669314 - 4711928 4721314 - 17199895;16889908;16460908;15342797;12514748;12477932;20206252 149830 Q86SH4 ABBA01053857;AJ427539;AJ427540;AL133396;AL137296;AMYH01011687;BC137389;BC137390;CH471133;NR_024267;NR_024268;NR_024269 CAD20690;CAD20691;EAX10447;Q86SH4 Hs.126516 1649313;1697354 D20S1095;RH102175 M8 miscrna ENSG00000180259 18046 14086 PREDICTED 1319178 PRMT5 protein arginine methyltransferase 5 14 14 q11.2 22459573 22468501 - 23389733 23398661 - 1580863;1359044;2299953;6480464;6484113;7242552 15866169;17437848;21074527 15369763;18404153;17709427;9843966;15130578;19234465;19086919;19032343;18992153;18694959;18347060;17627275;17573539;16712789;16087681;15737618;15701830;15670829;15489334;15485929;15324660;14702039;14583623;14559996;12718890;12665801;12477932;12358155;12101096;11756452;11747828;11720283;11713266;11152681;10734105;10531356;21145461;22708516;9556550;16169070;20495075;15654770;16699504;17643375;18029348;19741270;20195544;16980624;19520849;19188441;20951943;16428440;17707232;20421892;21081503;21159818;17409432;17925232;17974993;21262773;21385873;21316606;21700716;22863883;22952863;20811636;19167051;21118156;21592330;22939629;23071334;22199349;22269951;20360068;21081666;21917714;23569248;23671120;16300736;17452440;20473970;18781797;21987572;22143770;21907836;21975038;22266372;18984161;21139048;21890473;21906983;22169276;22193545;22231400;16969126;17620599;22179613;22354994;22586326;23133559;23261437;23398456;23455922;23455924;18562274;19738201;21963094;22365833;23084401;23184937;23246001;23292799;12972618;19380743;22268729;22797925;22726390 10419 A8MTP3;B4DV00;B4DX49;C9JSX3;G3V2F5;G3V2L6;G3V2X6;G3V3A3;G3V507;G3V580;G3V5L5;G3V5T6;G3V5W5;H0YJ77;H0YJD3;H0YJX6;H0YJY6;H7BZ44;O14744 AB451246;AB451370;ABBA01061291;AF015913;AF167572;AK027737;AK075251;AK300863;AK301812;AK302240;AK315500;AL132780;AL833612;AMYH01005600;BC005820;BC025979;CH471078;CQ783364;CR456741;FB789353;FB789383;FB811362;FB811392;FB824205;FB824235;FB827318;FB827348;FB832629;FB832659;FB833178;FB833208;FB835923;FB835953;FB847656;FB847686;FB857233;FB857263;FB866093;FB866123;FB874522;FB874552;FB877659;FB877689;FB884959;FB884989;FB892816;FB892846;FB895939;FB895969;FB898146;FB898176;HB659412;HB659442;HB681421;HB681451;HB694264;HB694294;HB697377;HB697407;HB702688;HB702718;HB703237;HB703267;HB705982;HB706012;HB717715;HB717745;HB727292;HB727322;HB736152;HB736182;HB744581;HB744611;HB747718;HB747748;HB755018;HB755048;HB762875;HB762905;HB765998;HB766028;HB768205;HB768235;HB830570;HB830600;NM_001039619;NM_006109 AAB66581;AAF04502;AAH25979;ABM84347;ABM87772;BAG37884;BAG52095;BAG62512;BAG63261;BAG63592;BAG70060;BAG70184;CAF86569;CAG33022;CAW36507;CAW36522;CAW47075;CAW47090;CAW52884;CAW52899;CAW54329;CAW54344;CAW56663;CAW56678;CAW56884;CAW56899;CAW58130;CAW58145;CAW63380;CAW63395;CAW67682;CAW67697;CAW71688;CAW71703;CAW75488;CAW75503;CAW76906;CAW76921;CAW80180;CAW80195;CAW83710;CAW83725;CAW85688;CAW85725;CAW88052;CAW88087;CBC02460;CBC02475;CBC12707;CBC12736;CBC24395;CBC24426;CBC27261;CBC27290;CBC31963;CBC31992;CBC32400;CBC32427;CBC34850;CBC34879;CBC45305;CBC45335;CBC53883;CBC53913;CBC61885;CBC61915;CBC69422;CBC69455;CBC72246;CBC72276;CBC78810;CBC78840;CBC85871;CBC85900;CBC88583;CBC88615;CBC90649;CBC90681;CBD29472;CBD29487;EAW66217;EAW66218;EAW66219;EAW66220;EAW66221;NP_001034708;NP_006100;O14744 Hs.367854 1648366;2119662 A002Q41;G21627 HRMT1L5;IBP72;JBP1;SKB1;SKB1Hs 72 kDa ICln-binding protein;HMT1 hnRNP methyltransferase-like 5;OTTHUMP00000027922;OTTHUMP00000164558;OTTHUMP00000246076;OTTHUMP00000246077;OTTHUMP00000246079;SKB1 homolog;histone-arginine N-methyltransferase PRMT5;jak-binding protein 1;protein arginine N-methyltransferase 5;shk1 kinase-binding protein 1 homolog;skb1 homolog (s. pombe) protein-coding ENSG00000100462 10894 04955 604045 VALIDATED 737306 PRNP prion protein The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 20 20 p13 4614797 4630234 + 4666797 4682234 + 1599946;1599950;1580863;6480464;6484113;6907045;7240710 1684755;17146448 20547212;16825956;15342556;1672107;17827389;20506117;21833705;21943430;16294306;16286452;16004966;3755672;19606064;19587281;19558790;19534429;19524515;19495414;19477226;19476383;19416900;19363267;19351416;19327369;19321423;19278656;19228673;19226372;19218199;19212444;19204171;19196429;19172188;19164910;19158507;19156168;19140013;19129193;19099191;19081515;19077115;19074151;19064990;19056496;19035579;19030774;19010951;19008948;18990686;18959744;18955686;18930924;18830724;18810471;18786636;18722532;18706660;18691383;18665216;18638557;18619462;18597782;18563793;18549399;18549395;18539633;18508914;18505059;18482256;18478114;18445040;18443555;18436646;18425766;18423780;18419754;18413481;18406463;18372408;18349519;18347820;18332630;18325785;18275852;18247504;18236081;18236005;18218718;18217885;18204788;18191917;18188498;18038270;18025469;18006836;17996224;17987393;18720902;17965961;17873292;17822808;17709704;17570906;17560545;17559305;17539938;17519231;17497959;17472702;17449139;17414209;17410475;17409275;17385076;17334659;17313881;17276393;17260961;17242357;17202849;17192785;17156017;17149767;17134829;17121821;17092648;17047093;17029361;17023178;16987816;16950206;16934224;16925523;16921242;16914329;16908519;16897605;16889908;16858508;16847689;16847141;16831968;16825951;16824036;16764594;16750169;16713569;16704797;16674609;16672189;16582585;16580884;16547836;16545382;16543824;16537913;16533975;16519692;16478730;16460908;16443601;16434486;16432880;16344560;16342955;16324095;16315279;16314483;16298483;16287045;16263114;16217673;16215462;16215457;16192387;16187142;16175355;16156720;16120605;16119432;16099923;16099550;16051190;16025285;16009550;15997418;15987701;15946217;15862295;15850959;15846375;15837581;15775715;15748158;15684434;15639746;15609351;15591591;15583862;15557533;15555583;15539564;15489334;15488240;15469448;11584448;11571277;11559357;11283320;11278562;11244488;11220690;11161453;11120925;11100730;11062072;11060296;11032800;10988071;10987652;10970892;10954699;10900000;10790216;10631141;10618385;10581485;10090891;9799790;9786248;9482303;9473220;9384372;9266722;8962161;8909447;8797472;8797471;8676499;8461023;8364585;8105771;7913755;7906019;7902972;7902693;7783876;7699395;7642585;7630420;7592679;7572084;7485229;3014653;2783132;2572450;2567794;2564168;2180366;2159587;1736177;1683708;1678248;1677164;15304595;15277640;15266305;15258222;15247220;15215178;15208260;15203115;15148589;15146195;15140132;15131108;15123682;15050367;14983221;14970845;14761942;14745079;14744790;14702039;14668351;14645231;14623188;14616310;14610121;14593432;14576159;14519851;12970341;12952977;12946346;12917444;12917418;12867116;12805563;12796830;12778138;12719777;12694397;12692258;12690204;12684540;12682740;12679875;12679034;12659837;12645301;12621436;12601712;12590162;12568340;12547204;12543108;12514748;12477932;12464104;12459456;12399017;12392052;12359724;12356908;12356762;12205650;12186633;12161431;12093732;12084159;12070046;12034503;11986958;11961239;11882649;11840201;11833672;11787070;11780052;11775001;11756421;11709001;11704923;11684342;11593450;22484317;22031292;22318606;22505365;21983261;22676969;1671440;1439789;1363810;1363802;1357663;1352724;1351748;1347910;1346338;16169070;11438139;15145944;21212268;21445238;19210573;19996123;20049591;20552563;20583301;20625387;20650901;20685658;21799773;20465257;20515742;20515743;20515747;20574532;20583902;20592456;20526696;20838930;21593310;20564346;21209079;23398456;20562404;20932979;21107135;21616973;11900542;19051123;19249347;19369250;19556894;19583442;19597535;19601795;19602567;19607920;19643043;19675240;19690385;19696976;19697238;19698114;19709627;19710507;19734292;19786843;19807656;19822779;19882604;19889475;19910028;19911184;19917818;19923577;19927125;20004419;20005032;20035629;20036811;20036833;20077484;20105449;20109837;20145049;20392961;20413850;20453509;20487506;20816195;20880607;20718410;20799315;20923664;20949975;19725833;20541558;20547859;20175205;20529115;20661422;20526338;16159877;20564047;20919751;19542614;19728151;20028338;20195363;20422111;20573963;20576610;20613639;20861579;17500595;21478678;20724601;21265952;21323366;21293298;21320996;21119307;20870462;21296677;21298055;21451573;20970434;21071944;21356381;21094273;21257747;21338080;20711061;20930299;20804519;21116546;23225390;22876179;22915585;21439722;21385869;21232818;21029243;21600043;21297264;21911696;21552571;21508834;22796214;21062360;21743439;21763357;21559407;21804240;21839748;23175838;23436635;21478263;18029348;20198483;20473510;20593190;20694796;21058033;21107851;21795680;21957246;21957261;21875156;21900252;21631281;21689534;21827207;21920025;21597335;21654203;21980292;22046086;23209282;22930754;21857997;22002245;22028931;22861352;22967749;22032174;21980981;22129783;22128151;22356913;20301407;21193246;21301993;21453198;22137330;22155634;22184125;22210626;22252492;22318125;22363722;22411239;21841253;22384235;22511770;22558368;22675855;20964628;22615124;22669942;22978166;22936677;23131565;23319218;23392670;23386614;23449776;22763467;22658899;22972305;22860629;22036844;18051367;22076653;22685557;22788868;22791135;22820080;23614720;23627023;22561193;22842913;22874673;22895088;22895089;23022479;23090399;23115236;23256626 5621 A2A2V1;F7VJQ1;Q53YK7;Q96E70 AB300823;AB300825;ABBA01053856;AF030575;AF076976;AF085477;AF315723;AK090575;AK293312;AK295415;AK295943;AK312276;AL133396;AMYH01011686;AW452130;AY008282;AY219882;AY219883;AY458651;AY569456;BC012844;BC016809;BC022532;BG397054;BI669189;BK007887;BP251427;BT019496;CH471133;CR542039;CR542072;D00015;DA122620;DA297032;DB461478;DQ408531;HM459606;M13667;M13899;M81929;M81930;NG_009087;NM_000311;NM_001080121;NM_001080122;NM_001080123;NM_001271561;NM_183079;S71208;S71210;S71212;S79978;S80539;S80732;S80743;S83341;U29185;X83416 AAA19664;AAA60182;AAB20521;AAB20522;AAB20523;AAB21334;AAB35416;AAB50648;AAB50649;AAB50777;AAB59442;AAB59443;AAC05365;AAC62750;AAC78725;AAD46098;AAG21693;AAH12844;AAH22532;AAO83635;AAO83636;AAR21603;AAS80162;AAV38303;ABD63004;ABM82244;ABM85428;ADO16981;BAA00011;BAG32276;BAG32278;BAG35206;BAG52189;BAG56832;BAG58365;BAG58727;CAA58442;CAG46836;CAG46869;DAA34790;EAX10449;EAX10450;NP_000302;NP_001073590;NP_001073591;NP_001073592;NP_001258490;NP_898902;P04156 Hs.472010;Hs.610285;Hs.721670 1645285;1647401;1741609;1745441;1790359;1792100;1855829;2114030;2131476;2137175;2145015;2167480 D20S1014;GDB:181561;GDB:607655;PMC136957P1;PRNP;PRNP-2;RH47809;RH70248;RH71030;RH71032;SGC44304;WI-18738 ASCR;AltPrP;CD230;CJD;GSS;KURU;MGC26679;PRIP;PrP;PrP27-30;PrP33-35C;PrPc;p27-30;prion CD230 antigen;OTTHUMP00000030161;OTTHUMP00000030162;OTTHUMP00000030163;OTTHUMP00000161139;alternative prion protein; major prion protein;major prion protein;p27-30;prion protein;prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia);prion protein PrP;prion-related protein APPROVED protein-coding ENSG00000171867 9449 01453 123400;137440;176640;245300;600072;603218;606688 REVIEWED 1603267 PROCA1 protein interacting with cyclin A1 17 17 17 q11.2 23889570 23898038 - 24054661 24062999 - 27030534 27038872 - 6480464 15159402;12477932;17207965 147011 G5E9R8;J3QQU2;J3QSA8;K7ESJ9;Q8NCQ7 ABBA01015048;ABBA01015049;AC010761;AK301868;AK310299;AL137531;AMYH01008281;AMYH01008282;AY601916;BC029574;CH471159;NM_152465 AAH29574;AAT09159;ADQ31738;BAG63307;EAW51125;EAW51126;NP_689678;Q8NCQ7 Hs.207471 MGC39650 OTTHUMP00000163532;proline-rich cyclin A1-interacting protein;protein PROCA1 protein-coding 28600 07131 PROVISIONAL 1315565 PRODH2 proline dehydrogenase (oxidase) 2 The protein encoded by this gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme which catalyzes the first step in proline catabolism. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 33004365 33017674 - 40982732 40996041 - 36290892 36304201 - 1580863;6480464;6907045;7240710 18287100;12477932;20877624 58510 K7EJK5;K7ENT8;Q9UF12 ABBA01018766;ABBA01018767;ABBA01018768;AC002398;AMYH01009733;BC038853;BC039710;HH769066;NM_021232;U80018 AAF21465;AAI66629;CBX85264;NP_067055;Q9UF12 Hs.515366 1683571 RH93184 HSPOX1 kidney and liver proline oxidase 1;probable proline dehydrogenase 2;probable proline oxidase 2 APPROVED protein-coding ENSG00000250799 17325 17911 239500;600850 REVIEWED 736057 PROK1 prokineticin 1 The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011] 1 1 p21 110795311 110801499 + 110993788 110999976 + 1580863;6480464 17167981;19523441;19255255;19077468;18571163;18339712;17683928;17289879;17178891;16763065;16320832;16263331;16210375;15340161;15292351;15126581;15126578;12975309;12915658;12858543;12759245;12604792;12538479;12477932;11528470;11259612;12427552;19135668;19285664;19801577;19602057;20172976;20847187;20795791;20400074;19913121;20628086;18577758;21098624;21876489;21858136;21858178;21385081;21546446;22138749;22941044 84432 P58294 ABBA01068392;AF333024;AL358215;AL390797;AMYH01000944;AY029225;AY358683;BC025399;BM544315;CH471122;CS023555;CS583905;NM_032414 AAH25399;AAK33111;AAK49918;AAQ89046;ABM82496;ABM85689;CAI59103;CAN87427;EAW56449;EAW56450;NP_115790;P58294 Hs.514793 1765713;2178487 D1S3608;SHGC-149149 EGVEGF;PK1;PRK1 EG-VEGF;OTTHUMP00000013289;black mamba toxin-related protein;endocrine-gland-derived vascular endothelial growth factor;mambakine;prokineticin-1 APPROVED protein-coding ENSG00000143125 18454 06946 606233 VALIDATED 1314349 PROCR protein C receptor, endothelial The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] 20 20 q11.2 33223435 33228826 + 33759774 33765165 + 1580863;1578508;6480464 12970121 21273788;7929370;19238444;19236779;19222470;19004141;18977990;18757851;18680534;18612544;18604550;18555797;18539144;18480081;18443268;18278202;18160602;18073349;17849044;17823308;17570903;17454790;17439632;17327234;17170365;17155946;17099210;17099142;17054378;17049585;17027065;16444434;16409473;16354200;16354176;16153429;16113830;15978102;15954900;15921688;15710622;15634335;15489334;15304035;15178554;15150078;15116250;15080580;14576048;12911608;12897745;12871285;12831462;12683950;12586611;12563316;12560236;12529763;12514663;12477932;12439143;12413583;12152662;12152660;12052963;12034704;11780052;11776299;11703343;11686350;11552992;11099506;10681599;10681521;18403391;22036807;22614534;10570964;10518938;10397730;10364477;9396465;1051893;16169070;21502573;19913121;20506163;20628086;19296056;19436051;19467228;19587380;19696402;19806250;19860767;19895674;20231535;20237496;20619102;19129726;20141580;20802025;19689997;21149441;21228323;21252088;21103663;21362311;22681753;22939629;21885613;21392254;19634686;21139048;21851971;22370814;21901231;21824644;22251481;22216198;22443383;22703881;22885985;23581230;23724628;23739325;23136988;23128233;22903729;22885990 10544 Q9UNN8 AB026584;ABBA01019169;AF106202;AF375468;AK314887;AL356652;AMYH01011871;AMYH01011872;BC014451;BG423815;BM808358;BQ939781;CH471077;CR456948;HY110044;L35545;NG_032899;NM_006404;X89079 AAA63647;AAD43967;AAH14451;AAK53045;ABM83760;ABM87080;BAA77249;BAG37401;CAA61450;CAG33229;EAW76223;EAW76224;NP_006395;Q9UNN8 Hs.647450 1657027;1662072;2117463;2153999 GDB:678971;HSC25E122;RH69559;STS-L35545 CCCA;CCD41;CD201;EPCR;MGC23024;bA42O4.2 APC receptor;CD201 antigen;OTTHUMP00000030729;activated protein C receptor;cell cycle, centrosome-associated protein;centrocyclin;endothelial cell protein C receptor;endothelial protein C receptor APPROVED protein-coding ENSG00000101000 9452 02801 600646 REVIEWED 1350776 PROK2 prokineticin 2 This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p13 71903497 71916902 - 71820806 71834357 - 1580863;6480464;7240710 12728244;12604792;11259612;10580115;12466223;19336519;18723471;18682503;18559922;18300343;18285834;17959774;17903308;17054399;16763065;15772293;15548611;15489334;15340161;15126578;14978236;12477932;12024206;11054548;22528488;12427552;20022991;20172976;18577758;20389090;20734064;21666788;23082007;23386640;22050240;20301509;23548897 60675 Q9HC23 ABBA01030938;AC096970;AF182069;AF333025;AMYH01013276;AY349131;BC069395;BC096695;BC098110;BC098162;CH471055;CS023558;CS583902;NG_008275;NM_001126128;NM_021935 AAG16893;AAH69395;AAH96695;AAH98110;AAH98162;AAK49919;AAR06657;CAI59104;CAN87426;EAW65506;EAW65507;EAW65508;NP_001119600;NP_068754;Q9HC23 Hs.528665 5019595 G54373 BV8;HH4;KAL4;MIT1;PK2 OTTHUMP00000213530;OTTHUMP00000213531;prokineticin-2;protein Bv8 homolog APPROVED protein-coding ENSG00000163421 18455 08446 607002;610628 REVIEWED 1343717 PRODH proline dehydrogenase (oxidase) 1 This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 22 22 q11.21 17280295 17304066 - 18900287 18924066 - 635270;1599206;1580863;6480464;6907045;7240710 10192398;12217952 9305847;19367581;19232576;19140736;18989458;18794809;18247315;18197084;18163391;17604122;17504246;17412540;17135275;17106420;16874462;16860541;16791139;16619034;16303758;16094254;15914462;15662599;15494707;15489334;15449943;15274030;15146197;14702039;12815738;12525555;12514185;12477932;11891283;11280728;9385373;7566098;8889548;18583979;19415679;19654292;19736351;19942609;20398908;20524212;10490714;1349369;7644464;7762575;7909992;8178837;9731535;9754621;20562915;20877624;21041608;21448237;22108328;21886157;21960278;22796327 5625 C9JIW4;E7EQL6;H7C363;H7C3U9;Q9UF13 AA322439;AB209472;ABBA01005432;ABBA01005433;AC007326;AF010310;AK001359;AK091063;AMYH01012468;AMYH01012469;BC036534;BC068260;BC094736;BC118597;BC121809;BU730461;CB216963;CH471176;CN362765;NG_008226;NM_001195226;NM_016335;U79754 AAC39529;AAF21464;AAH68260;AAH94736;AAI18598;AAI21810;BAD92709;EAX03073;EAX03074;NP_001182155;NP_057419;O43272 Hs.517352 1336957;1648047;2110679;2118917;2151219;2151258;7185362;7186001 D22S1265;D22S283;D22S315;D22S446;G30159;NIB1910;PRODH__5587;SHGC-44364 FLJ33744;HSPOX2;MGC148078;MGC148079;PIG6;POX;PRODH1;PRODH2;SCZD4;TP53I6 OTTHUMP00000196495;OTTHUMP00000196496;OTTHUMP00000196497;p53-induced gene 6 protein;proline dehydrogenase 1, mitochondrial;proline dehydrogenase, mitochondrial;proline oxidase 2;proline oxidase, mitochondrial;tumor protein p53 inducible protein 6 APPROVED protein-coding ENSG00000100033 9453 08433 239500;600850;606810 REVIEWED 737321 PROC protein C (inactivator of coagulation factors Va and VIIIa) This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009] 2 2 q13-q14 127892487 127903288 + 128175996 128186822 + 1578391;1578392;1580863;1578517;1578514;1578515;1578389;1581278;6480464;6907045;7240710 15114590;8128429;12067914;2437584;8400292;14995995;7881411 17704111;17677000;17646160;17603240;17569089;17557119;17549291;17343367;17284699;17255099;17254565;17170365;17107352;17054378;17048007;16935856;16887970;16867987;16765424;16607073;16601829;16420659;16418283;16344560;16335952;16246255;16146761;16113841;16113807;16113785;16105054;16095499;15978566;15860736;15841323;15769747;15710622;15705565;15670041;15665002;15634335;15582990;15516929;15505101;15489334;15486064;15337738;15319291;15308562;15178554;15116250;14976057;14961149;14675098;14660667;14517747;12960605;12871399;12609838;12588872;12540965;12482406;12477932;12407115;12200374;12195699;12193972;12091346;12091344;12063259;12029084;11994010;11761087;11686318;11380450;11123896;11106601;11099506;10681521;10649502;10026263;9798967;9683579;9395524;9334197;9252393;9003757;8947506;8945631;8829639;8499568;8499565;8477066;8446940;8398832;8324221;15248212;15005336;12563316;12052963;14718574;18029348;2538457;19248107;19244161;19190829;19132190;19116273;19052924;18974842;18954896;18953177;18824642;18779332;18768782;18702832;18680736;18680534;18612533;18573519;18496716;18489431;18457995;18451327;18424440;18424361;18376272;18329782;18247057;18198180;18184931;18160601;18089851;18045665;17982464;17932312;17890957;17849052;8292730;8218861;8003977;7989361;7974343;7919373;7878626;7865674;7841324;7841323;7792728;7605880;7548163;6589623;6572939;3511471;3185623;2991887;2991859;2912888;2602169;2544585;2461936;22447930;22398431;2105310;2033065;1939075;1868249;1761551;1694179;1615482;1611081;1593215;1544894;1511989;1511988;1498334;1469096;1433913;1347706;1301959;1301954;1270437;2551064;16712791;20404340;19913121;20485444;20628086;20673868;20802025;19535131;19680809;20675283;20873219;19129726;1290170;17649706;19244160;19279234;19350118;19350130;19373522;19404546;19506951;19546541;19587380;19625989;19644401;19682239;19686413;19691480;19765701;19774219;19794411;19874463;19892996;19922983;19924026;19958090;20066740;20127387;20128871;20180321;20452482;20499136;3427056;468991;7479820;8537329;8889548;9108399;20077116;20174758;20664913;20881312;20707712;20156643;20409682;20187890;20501981;20334530;20492471;21392254;21173154;21228323;21044954;21627595;21474669;20815936;22627591;21486865;21430357;22425321;22167755;22168450;18521487;21176144;21900206;21777953;22245244;21826371;22951146;23480827;21575129;22106258;22531345;22664011;22690042;21822632;22109555;21901152;22443383;21569220;22477541;22371115;22545135;22576310;22535660;22817391;22918506;22976599;22944127;23174622;22964764;22750541;22682140;22236035;22236082 5624 B4DPQ7;E7END6;E7ENR9;E7EU72;E7EVH6;F2Z2A0;H7BYX9;P04070 AB083690;AB083693;AB083695;AB083696;AB083697;AB083698;AB083699;AB083700;AB086849;AB086850;AB086851;AB086852;ABBA01040207;AC068282;AF378903;AK298280;AK298449;AK298454;AK303773;AMYH01011018;AY348553;AY348554;AY454079;BC034377;BM975043;CB113383;CH471103;CQ757487;CQ821348;CS355172;DA642156;GM997828;GM997830;K02059;M11228;M12712;NG_016323;NM_000312;S50739;S55227;S58668;X02750 AAA60164;AAA60165;AAA60166;AAB24150;AAB25410;AAB26335;AAH34377;AAK56377;AAQ24849;AAQ24850;AAR23427;AAY15044;ABM81717;ABM84873;BAC21165;BAC21166;BAC21167;BAC21168;BAC21169;BAC21170;BAC21171;BAC21172;BAC53629;BAC53630;BAC53631;BAC54280;BAG60540;BAG60665;BAG60669;BAG64736;CAA26528;CAF32600;CAG34344;CAL24228;CAX30697;CAX30698;EAW95320;NP_000303;P04070 Hs.224698 1740965;1741139;1741505;1741617;1741925;2130604;2170739 D2S2639;GDB:176978;GDB:178362;GDB:181257;GDB:181584;GDB:186843;RH70647 APC;PC;PROC1;THPH3;THPH4 OTTHUMP00000162263;OTTHUMP00000203820;OTTHUMP00000203827;anticoagulant protein C;autoprothrombin IIA;blood coagulation factor XIV;protein c;vitamin K-dependent protein C APPROVED protein-coding ENSG00000115718 9451 01466 176860;612283;612304 REVIEWED 1351065 PROL1 proline rich, lacrimal 1 This gene encodes a member of the proline-rich protein family. The protein may provide a protective function at the eye surface. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 68621402 68633756 + 71298188 71310503 + 71263599 71275914 + 6480464 17101991;15851553;12477932;8670737;10831095;18410445 58503 Q99935 ABBA01022926;AC106884;AMYH01014276;BC092438;CD722615;CH471057;CK430664;CS162528;CS174966;NM_021225;S83198 AAB46823;AAI41466;AAI48721;CAJ32190;CAJ34589;EAX05620;NP_067048;Q99935 Hs.661425 1769333 SHGC-67981 BPLP;PRL1;opiorphin OTTHUMP00000219147;basic proline-rich lacrimal protein;basic proline-rich protein;proline-rich 1;proline-rich protein 1 APPROVED protein-coding ENSG00000171199 17279 16408 608936 REVIEWED 2303855 PRORSD1P prolyl-tRNA synthetase associated domain containing 1, pseudogene 2 2 2 p16.1 55349956 55352107 + 55362982 55365112 + 55509455 55511608 + 6480464 11181995;8889548 344405 A6NEY8 ABBA01075266;AC012358;AMYH01010362;BU607366;CH471053;NR_027258 A6NEY8;EAX00102 Hs.445292 NCRNA00117;PRDXDD1P;Prdxdd1;Ybakd1 APPROVED pseudo ENSG00000162997 34379 VALIDATED 733659 PROKR1 prokineticin receptor 1 2 2 2 p13.1 68723398 68733153 + 68726458 68736212 + 68872954 68882708 + 1580863;6480464 18339712;16763065;15815621;15489334;15126578;14702039;12477932;12427552;12054613;11886876;10760605;19801577;20023120;20795791;20847187;20864676;21876489;21858136;22132188;22138749 10887 Q8TCW9 AB084080;ABBA01075490;AC105054;AF506287;AMYH01010419;AY089976;BC100960;CH471053;EF577399;NM_138964 AAI00961;AAM11892;AAM48127;AAY24114;ABQ52419;BAC24021;EAW99869;NP_620414;Q8TCW9 Hs.683430 1797650 GPR73_2559 GPR73;GPR73a;PKR1;ZAQ G protein-coupled receptor 73;G protein-coupled receptor ZAQ;G-protein coupled receptor 73;G-protein coupled receptor ZAQ;OTTHUMP00000159967;PK-R1;g protein-coupled receptor i5e;prokineticin receptor 1 protein-coding ENSG00000169618 4524 08452 607122 VALIDATED 1353227 PROKR2 prokineticin receptor 2 Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008] 20 20 p12.3 5230686 5243015 - 5282686 5295015 - 1580863;6480464;7240710 18826963;22466334;18723471;18682503;18559922;17054399;16763065;15489334;15126578;12477932;12427552;11886876;11780052;20576534;21454486;19544013;20022991;20023120;20379614;20734064;20847187;16754659;20389090;21161321;22132188;21224062;23082007;22745195;22319038;21858136;23386640;23200691;20301509;22138749;22773735 128674 Q8NFJ6 AB084081;ABBA01053879;AF506288;AK289995;AL121755;AMYH01011692;BC104959;BC104961;CH471133;EF577398;NG_008132;NM_144773 AAI04960;AAI04962;AAM48128;ABQ52418;BAC24022;BAF82684;EAX10422;NP_658986;Q8NFJ6 Hs.375029 1720343;1797648 GPR73L1_2149;RH123922 GPR73L1;GPR73b;GPRg2;HH3;KAL3;PKR2;dJ680N4.3 G protein-coupled receptor 73-like 1;G-protein coupled receptor 73-like 1;Kallmann syndrome 3 (autosomal dominant);OTTHUMP00000030192;PK-R2;prokineticin receptor 2 APPROVED protein-coding ENSG00000101292 15836 08453 244200;607123 REVIEWED 1351835 PROSER2 proline and serine-rich protein 2 10 10 10 p14 11793985 11842841 + 11905403 11954282 + 11865397 11914276 + 737633;6480464 12477932 15489334;15302935;15164054;21832049;21044950;21988832;23455922 254427 D3DRR9;Q86WR7 ABBA01034680;ABBA01034681;ABBA01034682;AL138898;AMYH01002029;BC007547;BC017269;BC029134;BC040040;BC048800;CH471072;NM_153256 AAH07547;AAH17269;AAH29134;AAH48800;EAW86336;EAW86337;EAW86338;EAW86339;NP_694988;Q86WR7 Hs.435775 1663701;1683050;1684584;1775298;2124916 RH44705;RH70054;RH91933;RH94221;SHGC-33566 C10orf47;MGC35403 OTTHUMP00000019082;OTTHUMP00000035224;hypothetical protein LOC254427;proline and serine-rich protein 2;uncharacterized protein C10orf47 APPROVED protein-coding ENSG00000148426 23728 10697 VALIDATED 1345263 PROM1 prominin 1 This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 p15.32 15578955 15686664 - 15969849 16085623 - 1580863;6480464;7240710 9389720;19385971;19342601;19216024;19153665;19147788;19047148;19017033;18985161;18853445;18836486;18829568;18829544;18802032;18781171;18754869;18702870;18679414;18654668;18645205;18644979;18602031;18568776;18542072;18511311;18497883;18403755;18402255;18398820;18398462;18374086;18371181;18192867;18172261;18096722;17999603;17977646;17912948;17883595;17868344;17785371;17605048;17594720;17498271;17487431;17388661;17253947;17205516;17122772;17081983;17077937;17077324;16914572;16809613;16439688;16381901;16344560;16303743;15558321;21764578;22156015;21438906;22623141;22130040;22394107;22496204;15489336;15254585;15231568;15226377;15115691;14702039;14630820;12799292;12657606;12477932;12042327;11467842;11076863;10587575;10205271;10075457;9389721;8125298;21082235;21412503;21436631;21448425;20393116;20560029;20617370;20526812;21508381;17605847;18410526;19369008;19404394;19430532;19509143;19583834;19583859;19584075;19621338;19626493;19657699;19676044;19718270;19718438;19723143;19724847;19724856;19744348;19752721;19760928;19786935;19805294;19816957;19842219;19904829;19940551;20023382;20042663;20056076;20062010;20068153;20081809;20167130;20196115;20333645;20347795;20379614;20530428;20564348;20859302;20428792;17545092;20487522;20593500;20309962;20587144;20181261;20346143;21054902;20379837;20707712;20551139;20853315;20872808;20395004;20502714;20530554;20606680;20596619;20711432;20800872;20936779;20717901;20878131;21602936;21220328;21174061;21304102;21372740;21360712;21959795;22453233;21238532;21276138;21122138;21127401;22964855;23106300;22740326;22960282;21187924;22865455;21435437;20800650;21457403;20970309;21559522;21778785;23326490;21462307;21591261;22782852;23584268;20854168;21064103;21486962;21695188;21826669;21829201;21947321;21331808;21801380;21415057;21479688;21937449;22008114;22739150;22964035;23170850;23206244;23216238;22079466;22199321;23409180;22322379;22571340;21385990;22448662;22664874;21798073;21900452;21917149;21966538;20717756;22119814;21898409;21912092;22049795;22130902;22140506;22157717;22431923;22072879;22337994;21994122;21808992;22076958;22123613;22025269;22178090;16885410;19092120;20301590;21931765;22246536;22652175;22395973;22236447;22614155;22944295;23084749;23150174;21901757;23195431;21868340;23049880;22395309;23318676;23340741;23252868;23071857;23064961;23276935;22514116;23470693;22315171;22748652;22246526;23322518;23609373;19384922;22871210;22922842;23138940;23245659;23396254;23569237;22408058;22529031 8842 D6RBI0;D6RCC3;D6RIF3;H0Y9D4;H0Y9M7;H0Y9Q5;O43490 AA622198;ABBA01032575;ABBA01032576;ABBA01032577;ABBA01032578;ABBA01032579;AC005598;AC108063;AF027208;AF117225;AF507034;AK025391;AK027420;AK027422;AK075411;AK226033;AK310415;AK314529;AK315889;AMYH01014025;AY449689;AY449690;AY449691;AY449692;AY449693;BC012089;CH471069;DB326234;NG_011696;NM_001145847;NM_001145848;NM_001145849;NM_001145850;NM_001145851;NM_001145852;NM_006017 AAB92514;AAH12089;AAM33415;AAO15307;AAS19705;AAS19706;AAS19707;AAS19708;AAS19709;ABM86378;ABW03789;BAF98780;BAG51316;BAG51317;BAG52133;CAL38231;EAW92750;EAW92751;EAW92752;NP_001139319;NP_001139320;NP_001139321;NP_001139322;NP_001139323;NP_001139324;NP_006008;O43490 Hs.614734 1298180;1298205;1331564;1335107;1336082;1339710;1339841;1342118;1659206;1664521;1723057;1726801;1754959;1764183;1765675;1850221;1850635;1851013;2110213;2115411;2127108;7186345 D4S1582;D4S1601;D4S2397;D4S3022;D4S3023;D4S3048;D4S391;D4S403;D4S497;G16721;G33894;G62790;RH121881;SHGC-141874;SHGC-147822;SHGC-149115;SHGC-24088;SHGC-7038;SHGC4-910;WI-22012;stb448g15.p4 AC133;CD133;CORD12;MCDR2;MSTP061;PROML1;RP41;STGD4 OTTHUMP00000217744;OTTHUMP00000217745;OTTHUMP00000217746;antigen AC133;hProminin;hematopoietic stem cell antigen;prominin-1;prominin-like 1;prominin-like protein 1 APPROVED protein-coding ENSG00000007062 9454 05079 603786;604365;608051;612095;612657 REVIEWED 1353474 PROSP protein S pseudogene (beta) 3 3 3 p21-cen 91004659 91044109 - 90339951 90374006 - 90250256 90291222 - 2148112;2148111 5628 ABBA01004647;ABBA01004648;ABBA01004649;AC139337;AMYH01013337;M36565;NG_001179 1340941;1674865 D3S2448;D3S3999 PROS2 pseudo 9458 INFERRED 1353767 PROM2 prominin 2 This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 2 2 2 q11.1 90293346 90310195 + 95303928 95320781 + 95940201 95957056 + 633875;1580863;6480464 12514187 18536929;17145811;14702039;12975309;12477932;20333396;16344560;19724856;23583380 150696 B2R879;F8WDW5;Q8N271 ABBA01003563;ABBA01003564;ABBA01003565;AC009238;AF245303;AF245304;AI928825;AK091175;AK091408;AK290366;AK313267;AMYH01010687;AY358377;BC025736;BC113877;BC114525;CH471219;DB003233;NM_001165977;NM_001165978;NM_144707 AAI13878;AAI14526;AAM10541;AAM10542;AAQ88743;AAY14751;BAC03599;BAC03657;BAF83055;BAG36076;EAX10718;EAX10719;EAX10720;EAX10721;EAX10722;NP_001159449;NP_001159450;NP_653308;Q8N271 Hs.469313 5022588;5037552 D5S1597E;D8S2279 MGC138714;PROM-2;PROML2 OTTHUMP00000160939;OTTHUMP00000207357;hPROML2;prominin-2;prominin-like protein 2;prominin-related protein APPROVED protein-coding ENSG00000155066 20685 17912 REVIEWED 7176316 PROSER2-AS1 PROSER2 antisense RNA 1 10 p14 11891607 11936709 - 14702039 219731 AA609739;ABBA01034680;AK056703;AL138898;AMYH01002029;BC032757;CB960510;NR_038222 Hs.576787 1669531;1683050;1684584;5022651 D10S2376;D11S2921;RH91933;RH94221 miscrna ENSG00000225778 27343 VALIDATED 6481128 PROX1-IT1 PROX1 intronic transcript 1 (non-protein coding) 100874297 AC011700 miscrna 41372 1344010 PROP1 PROP paired-like homeobox 1 This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011] 5 5 q35.3 177351842 177355849 - 177419236 177423243 - 704351;1601504;1580863;1601503;6480464;7240710 9462743;15941866;9768691 12519826;18653712;18157385;17526949;17526936;16703408;15963055;15531542;15489334;15472232;15302300;15126542;14714741;14646405;12717343;12477932;12464226;12006708;11822586;11549703;11283314;11134108;10946881;10323394;10199788;10084575;9920061;9824293;9745452;9685346;9661653;20694410;19913121;20628086;20381582;19128366;19453261;20534763;20181723;20395664;16678101;22086512;21761366;21132537;22024773;20301521;22745233;22801565 5626 O75360 ABBA01039251;AC136940;AF041141;AF076214;AF076215;AMYH01015932;BC069076;CH471390;NG_015889;NM_006261 AAC27900;AAC77453;AAC77454;AAH69076;EAW50395;NP_006252;O75360 Hs.158301 5491677 MARC_7471-7472:1004991933:1 CPHD2;PROP-1 OTTHUMP00000161487;PROP-1;homeobox protein prophet of Pit-1;pituitary-specific homeodomain factor;prophet of Pit1, paired-like homeodomain transcription factor APPROVED protein-coding ENSG00000175325 9455 03325 262600;601538 REVIEWED 5686964 PROX1-AS1 PROX1 antisense RNA 1 1 q32.3 213991095 214139608 - 14702039 100505832 AC011700;AC096639;AK092251;NR_037850 1341875;1682802;1707704;1716333;1759439;1852375;1854603;2125023;2178626 AL009477;D1S2646;G29130;RH121196;RH12285;SHGC-150731;SHGC-76334;SHGC-76350;SHGC-82025 APPROVED miscrna 43656 1342781 PROS1 protein S (alpha) This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. [provided by RefSeq, Feb 2009] 3 3 q11.2 95074647 95175395 - 93591881 93692934 - 1578677;1599209;1580863;1578508;2300011;6480464;6907045;7240710 12907438;9657428;12970121;16995903 8146182;14718574;19437370;19404554;19244162;19004141;18954896;18945960;18922854;18841302;18824642;18784085;18779332;18768782;18680534;18485091;18435454;18433462;18424440;18419747;18322254;18278202;18250462;18067603;18045239;18029348;17958742;17938802;17890957;17849042;17597997;17393035;17157360;16969634;16961608;16961607;16935856;16885060;16868938;16840717;16720551;16672217;16607073;16493484;16488980;16461766;16363235;16344560;16335952;16229836;16105054;16100035;15978566;15893367;15748239;15670064;15489334;15456488;15292065;15175796;15096498;14652633;14515184;12871408;12492479;12490286;12477932;12447359;12413608;12193972;12193728;11927129;11858485;11848449;11843280;11776305;11686322;11467946;10744423;10593904;10447256;9252393;8889548;8641360;8616098;8428962;8422460;8298131;7620160;6454142;6239102;3467362;2974696;2961379;2952034;2944113;2940598;2820795;2526663;2461936;2148653;2148111;2148110;2143091;1833851;1615482;1534488;1531628;214811;9628846;20308596;20348395;20926118;19492164;20673868;20811787;20539904;20693287;14630798;19128822;19466456;19630792;19679847;19744001;19815836;19874463;19878975;19924026;20002538;20200160;20452482;20022358;20705334;21172841;20398916;20881312;20088940;20514628;20492471;20484936;20880255;20378562;22627591;23065156;23074276;21190511;21384080;21486865;21508412;21569220;21811774;21979881;22261441;23370801;23402259;22908226;22104477;22273984;22318644;22371115;21988832;22627709 5627 C9K0R0;G5E9F8;H7BXT0;P07225 AB083386;AB083387;AB083389;AB083390;AB083391;AB083392;AB083393;AB083394;AB083395;AB083396;AB083687;AB083688;AB084900;AB084901;AB084902;AB084903;AB084904;AB087994;ABBA01026971;ABBA01026972;ABBA01026973;AC117474;AC144562;AI139337;AK292994;AK303895;AMYH01013339;AY308744;AY605182;BC015801;BE677834;BU688598;CH471052;DB275740;DQ453481;DQ453483;DQ453484;DQ902690;M14338;M15036;M57853;NG_009813;NM_000313;S81775;S81777;X12892;Y00692 AAA36479;AAA60181;AAA60357;AAD14374;AAD14375;AAH15801;AAP45054;AAT37717;ABD96173;ABD96174;ABD96175;ABI93128;ABM83315;ABM86528;BAC21163;BAC21164;BAC54134;BAC54135;BAC54137;BAC54138;BAC54139;BAC54140;BAC54141;BAC54142;BAC54143;BAC54144;BAC54253;BAC54254;BAC54255;BAC54256;BAC54257;BAC55115;BAF85683;BAG64828;CAA31383;CAA68687;CAA68688;EAW79903;EAW79904;EAW79905;NP_000304;P07225 Hs.64016 1674865;1741457;1790361 D3S3999;GDB:181221;PROS1 PROS;PS21;PS22;PS23;PS24;PS25;PSA;THPH5;THPH6 OTTHUMP00000197145;OTTHUMP00000197146;protein Sa;vitamin K-dependent plasma protein S;vitamin K-dependent protein S APPROVED protein-coding ENSG00000184500 9456 01473 176880;612336;614514 REVIEWED 1319730 PROSER1 proline and serine rich 1 This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012] 13 13 13 q13.3 20638011 20666260 - 38482002 38510252 - 39584002 39612213 - 6480464 18246054;16344560;15489334;15057823;14702039;12477932;17761849;20379614;19471022 80209 A6NJ97;Q5JS34;Q5JS36;Q86XN7 AA598728;AB107354;ABBA01021315;AK022723;AK024308;AK074360;AK299663;AL445590;AL522407;AL833854;AL834435;AMYH01005048;AW294041;BC042652;BC053566;BC064348;BX647471;CH471075;DA106195;DA786460;DR001207;NM_025138 AAH53566;AAH64348;BAB14204;BAC67659;BAH13093;CAD38713;CAD39095;CAH56138;EAX08610;EAX08611;NP_079414;Q86XN7 Hs.318526 1648125;1654131;1681570;5106586 G31027;RH92202;STS-N25548;STS-N29486 C13orf23;FLJ12661;FLJ23780;RP11-50D16.2;bA50D16.2 OTTHUMP00000018292;hypothetical protein LOC80209;proline and serine-rich protein 1 APPROVED protein-coding ENSG00000120685 20291 12616 REVIEWED 1315763 PROX1 prospero homeobox 1 The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 1 1 q41 212228483 212276389 + 214161278 214214853 + 1580863;5133273;6480464 17042797 11789987;11850194;19210544;19160541;18948102;18815287;18580962;18564921;18455124;18400094;17761831;17533110;17415710;17217617;17069925;17062673;16525637;16488887;16308102;15232737;15205472;15143342;12874782;12692551;12477932;12412020;12198161;12060670;11943779;11719431;10080188;8812486;11069920;20571754;20453716;20975337;15604093;19264593;19339011;19706680;19825936;19901262;19940551;20064070;20081858;20084020;20185807;20419449;20490451;20211142;20889853;20351309;21103350;22982861;21452064;22581228;21988832;23045246;23395615;21667034;21970873;22023334;22647876;22984506;21500548;22067331;16344560;22382784;22508481;22532251;22539871;22719258;22733308;22805777;22833470;23274905;23059885 5629 C9JU29;J3KP66;Q92786 ABBA01048149;ABBA01048150;AC011700;AK025453;AK298182;AL606537;AMYH01001716;BC024201;CH471100;DA743374;DA802102;DB086260;NM_001270616;NM_002763;U44060 AAC50656;AAH24201;ABZ92390;BAG60453;EAW93359;EAW93360;NP_001257545;NP_002754;Q92786 Hs.741808;Hs.744931 1670863;1774507;1853180;1855406;2108395;2130300;2153200 D1S3515;PROX1_8568;RH78799;SHGC-31006;SHGC-76335;SHGC-76345;SHGC-76346 OTTHUMP00000035023;OTTHUMP00000216821;PROX-1;homeobox prospero-like protein PROX1;prospero homeobox protein 1;prospero-related homeobox 1 APPROVED protein-coding ENSG00000117707 9459 03330 601546 REVIEWED 1319041 PROSC proline synthetase co-transcribed homolog (bacterial) 8 8 8 p11.2 36572050 36589221 + 37738833 37756444 + 37620101 37637286 + 1580863;6480464 10496079;11256614;16344560;15489334;14702039;12477932;11230166;8889548;22863883;21139048 11212 E5RFX7;E5RFZ4;E5RG77;H0YBG2;O94903 AB018566;ABBA01023570;ABBA01023571;ABBA01023572;AC138356;AI355650;AK021923;AK291135;AL136616;AMYH01018651;AW028116;BC012334;BM984988;CH471080;CR533532;DA086552;NM_007198 AAH12334;ACE86554;ACE87236;BAA36842;BAF83824;BAG51058;CAB66551;CAG38563;EAW63360;EAW63361;EAW63362;EAW63363;EAW63364;NP_009129;O94903 Hs.304792;Hs.608177 1684908;1763885;1847673;1850969;1853090 RH44321;RH68230;RH76760;SHGC-147554;WI-15099 FLJ11861 OTTHUMP00000225602;OTTHUMP00000225608;proline synthase co-transcribed bacterial homolog protein;proline synthetase co-transcribed (bacterial homolog);proline synthetase co-transcribed bacterial homolog protein protein-coding ENSG00000147471 9457 16060 604436 VALIDATED 1353539 PRPF19P1 PRPF19 pseudogene 1 18 63735963 63736881 - 100422496;399695 ABBA01056246;AC007632;AMYH01009063;NG_026300 HsT1682;PRP19P APPROVED pseudo 23182 INFERRED 1606668 PROX2 prospero homeobox 2 14 14 14 q24.3 55360202 55368906 - 74391588 74400290 - 75319736 75330537 - 6480464 14702039;12477932;21490707;23382691 283571 G3V3G0;Q3B8N5 ABBA01030712;AC006530;AK094068;AMYH01005857;BC105720;BC105721;BC105927;CH471061;NM_001080408;NM_001243007 AAD30180;AAI05721;AAI05928;BAC04278;EAW81198;NP_001073877;NP_001229936;Q3B8N5 Hs.675293 1340684 D14S999 FLJ36749;PROX-2 PROX-2;homeobox prospero-like protein PROX2;prospero homeobox protein 2 protein-coding ENSG00000119608 26715 615094 VALIDATED 7176847 PRPF38AP1 PRP38 domain containing A pseudogene 1 10 p14 8203223 8204157 + 389935 ABBA01034724;AL357712;AMYH01002016;NG_022160 pseudo 44692 INFERRED 7175971 PRPF38AP2 PRP38 domain containing A pseudogene 2 10 p12.33 17619284 17620214 + 100131947 ABBA01034553;AC069542;AMYH01002067;NG_022162 pseudo 44693 INFERRED 1318570 PROZ protein Z, vitamin K-dependent plasma glycoprotein This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 13 13 q34 112860969 112874695 + 113812968 113826698 + 1358564;1580691;1580692;1580693;1580720;1580863;6480464 14671240;15879328;14507116;12970515;12297123 12623836;12490280;12477932;11858503;11289354;9578570;6707212;2511201;2403355;2244898;2129367;2040612;1872862;19188667;19185907;19132212;19124455;19050305;19026439;18828054;18677630;18378283;18246466;18180611;18177644;18000618;17958743;17903294;17701666;17456189;17403098;17048007;16807661;16191090;16155788;16120837;15841316;15748239;15626740;15489334;15314579;14652653;22786881;22576309;20427285;20416992;19913121;20628086;19572077;19578796;19729601;19796528;20024489;20076855;20180321;22960740;22297560;22689435;20460354;21479979;18841275;21691673;21837382;21975032;22424030;21233768;22559296 8858 P22891 AB033749;ABBA01019862;ABBA01019863;AF440358;AI492996;AL137002;AMYH01005396;AMYH01005397;BC074906;BC074907;CH471085;EF445049;M55670;M55671;M59303;NG_031993;NM_001256134;NM_003891 AAA36499;AAA36500;AAA36501;AAH74906;AAH74907;AAL27631;ACA06105;BAA85763;BAA85764;EAX09186;EAX09187;EAX09188;NP_001243063;NP_003882;P22891 Hs.1011 1854522;2177299 D13S1662;STS-M55671 PZ OTTHUMP00000018738;OTTHUMP00000018739;vitamin K-dependent protein Z APPROVED protein-coding ENSG00000126231 9460 07182 176895;614024 REVIEWED 731692 PRPF18 pre-mRNA processing factor 18 Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008] 10 10 10 p13 13556054 13599997 + 13668945 13712874 + 13628939 13672868 + 1580863;6480464;6907045 9000057;16344560;15489334;12477932;11823439;8436300;16385451;20379614;22939629;22213562;19471022;21890473 8559 Q5T9P7;Q5T9P8;Q99633 ABBA01034625;AF087997;AI580379;AK314814;AL157392;AMYH01002045;AU142253;BC000794;BC002572;CH471072;NM_003675;U51990 AAB41490;AAH00794;BAG37337;EAW86280;EAW86281;EAW86282;EAW86283;NP_003666;Q99633 Hs.729158 1654167;1736108;1760273;2132413;2173348;2183261 D10S1382E;RH70670;SHGC-132597;SHGC-3203;SHGC-36407;SHGC-6772 FLJ10210;PRP18;hPrp18 OTTHUMP00000019146;PRP18 homolog;PRP18 pre-mRNA processing factor 18 homolog;PRP18 pre-mRNA processing factor 18 homolog(PRPF18);potassium channel regulatory factor;pre-mRNA-splicing factor 18 APPROVED protein-coding ENSG00000165630 17351 05407 604993 REVIEWED 1353674 PRPF19 pre-mRNA processing factor 19 PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008] 11 11 q12.2 60414778 60430632 - 60658019 60674061 - 737633;1302471;1580863;6480464;6907045 12477932;12960389 17353931;11435423;18263876;17283042;17276391;16388800;16332694;16223718;16189514;15660529;15635413;15489334;15175653;12429849;11991638;11790298;11082287;10404385;21145461;19188445;11101529;19641227;20176811;20416268;16159877;21385873;21536736;20508642;22863883;22939629;23022380;23022480;16196087;20595234;20599946;17332742;15324660;19596686;20360068;21081666;22079093;22178446;21139048;21549307;21890473;21906983;21628590;21639856;22529335;22446626;23084401;19738201;21149631;21988832;22365833;22569250;22751105;22939624;22967061;23000965;22053931;22174317;23220010 27339 F5GY56;F5H2I0;H0YGF3;H0YGZ5;Q9UMS4 ABBA01021516;ABBA01021517;AF086469;AJ131186;AL555169;AMYH01003668;AP000777;AP003721;AW673738;BC008719;BC018665;BC018698;CH471076;NM_014502 AAH08719;AAH18665;AAH18698;ABM83929;ABM87248;CAB51857;EAW73904;EAW73905;NP_055317;Q9UMS4 Hs.502705 2140290 SHGC-57748 NMP200;PRP19;PSO4;SNEV;UBOX4;hPSO4 OTTHUMP00000236892;OTTHUMP00000236895;PRP19/PSO4 homolog;PRP19/PSO4 pre-mRNA processing factor 19 homolog;nuclear matrix protein 200;nuclear matrix protein NMP200 related to splicing factor PRP19;pre-mRNA-processing factor 19;prp19/pso4 homolog (s. cerevisiae);senescence evasion factor APPROVED protein-coding ENSG00000110107 17896 12214 608330 VALIDATED 1605670 PRPF38B PRP38 pre-mRNA processing factor 38 (yeast) domain containing B 1 1 1 p13.3 107504760 107514241 + 109036661 109045686 + 109234932 109244425 + 6480464;6907045 16083285;15342556;15324660;15302935;14702039;12601173;12477932;19615732;16344560 55119 Q69YH0;Q9NW40 ABBA01068354;AK001192;AL160171;AL591719;AL833950;AMYH01000926;AY211915;BC007757;BC009453;BC016296;BC024275;BC034581;BC040127;BC053838;BC107801;BC130346;BC132963;BC144243;BP198449;CH471122;DA372902;NM_018061;NR_037185 AAH07757;AAH16296;AAH24275;AAH34581;AAH40127;AAH53838;AAI07802;AAI30347;AAI32964;AAO65168;BAA91546;CAH10702;EAW56327;EAW56328;NP_060531;Q5VTL8 Hs.342307 1665223;1675401;1690698;1693202;1746001;2145352;2164426 AL033553;RH125928;RH45744;RH79755;RH91206;SHGC-32788;SHGC-75252 FLJ10330;MGC163218;MGC41809;NET1;RP11-293A10.1 OTTHUMP00000012660;OTTHUMP00000012661;pre-mRNA-splicing factor 38B;sarcoma antigen NY-SAR-27 protein-coding ENSG00000134186 25512 07664 VALIDATED 1602851 PRPF38A PRP38 pre-mRNA processing factor 38 (yeast) domain containing A 1 1 1 p32.3 51156917 51170690 + 52642807 52656580 + 52870219 52883992 + 6480464;6907045 21832049;16344560;15302935;14702039;12477932;16169070;21555454;21890473;21906983;18781797;21900206 84950 Q8NAV1 ABBA01074774;AK027842;AK092038;AK315621;AL138849;AL513218;AMYH01000619;BC000777;BC063655;BC105004;BC105006;BE465896;BF223635;BU508261;CH471059;DA055001;NM_032864 AAH00777;AAH63655;AAI05005;AAI05007;BAB55405;BAC03796;BAG37989;EAX06782;NP_116253;Q8NAV1 Hs.5301 2134965;5491734 D1S3532;PRPF38A FLJ14936;MGC3320;Prp38;RP5-965L7.1 OTTHUMP00000009912;pre-mRNA-splicing factor 38A protein-coding ENSG00000134748 25930 10972 VALIDATED 1321525 PRPF3 pre-mRNA processing factor 3 The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008] 1 1 q21.1 148560642 148592295 + 150293928 150325704 + 1599535;6480464;6907045 11773002 17932117;9328476;16189514;17353931;18553058;18395097;18211889;18026141;17517693;17081983;16565220;15635413;15541726;15489334;15452143;15085354;12875835;12714658;12477932;12456665;12374753;11971898;11823439;10713041;9600251;9521884;9404889;8842740;8125298;11350945;18029348;20801516;15257298;15314151;17643375;19615732;20309403;16055720;16159877;22939629;21378395;20595234;22678362;17332742;19322201;18274552;19596686;20360068;19471022;21139048;21693764;21890473;20301590;22365833;16723661;23453885 9129 B4DSY9;E7EVD1;O43395 ABBA01049335;ABBA01049336;ABBA01049337;AC242988;AF001947;AF016370;AK222825;AK297139;AK297265;AK299980;AK309330;AK310241;AK311653;AK312891;AL611942;AMYH01001373;AMYH01001374;BC000184;BC001954;BQ002848;CH471121;DC407158;NG_008245;NM_004698 AAC09069;AAC51926;AAH00184;AAH01954;ABM83779;ABM87099;BAD96545;BAG35738;BAG59640;BAG59740;BAG61801;EAW53556;NP_004689;O43395 Hs.11776 1331579;1337416;1338358;1340333;1341138;1774781;2108397;5092788 A006E14;D10S1692;D1S2345;D1S2858;D1S422;D1S498;G32330;PRPF3_8902 HPRP3;HPRP3P;PRP3;Prp3p;RP18;SNRNP90 OTTHUMP00000014935;PRP3 pre-mRNA processing factor 3 homolog;U4/U6 small nuclear ribonucleoprotein Prp3;U4/U6 snRNP 90 kDa protein;U4/U6-associated RNA splicing factor;pre-mRNA-splicing factor 3;prp3 pre-mrna processing factor 3 homolog (yeast) APPROVED protein-coding ENSG00000117360 17348 07389 607301 REVIEWED 1314103 PRPF31 pre-mRNA processing factor 31 This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009] 19 19 q13.42 59310649 59326954 + 54618790 54635150 + 1580863;6480464;6907045;7240710 15146197;11076863;11867543;19506198;19373678;19096719;18640990;18552984;18431455;18317597;18177735;17895420;17412961;17325180;17295140;17003455;16917484;16636657;16427773;16381901;16139010;15924690;15659613;15489336;15489334;15257298;15162096;15057824;14702039;14507862;12923864;12747765;12714658;12477932;12444105;11545739;11256614;11230166;8808602;8004108;1154573;14499622;8889548;11971955;21145461;22823124;20801516;20939871;21209461;15960975;17643375;19293337;19578015;19615732;20118938;21385873;22723017;22939629;23041261;23184937;21378395;21697133;21715351;19167051;17286855;20360068;23144630;23288994;21139048;21890473;20301590;22365833;23246001;16723661;22174317 26121 E7EN72;E7ESA8;E7ESX0;E7EU94;E7EVX8;F1T0A5;Q8WWY3 AB593024;AB593025;ABBA01068174;ABBA01068175;AC012314;AF308303;AK098547;AK301709;AL050369;AMYH01009976;AY040822;BC117389;CB854773;CH471135;CN306666;DQ374434;DQ426885;NG_009759;NM_015629 AAG48270;AAI17390;AAK77986;ABD37635;ADR83023;BAC05329;BAG63180;BAJ83978;BAJ83979;CAB43677;CAL37744;EAW72190;EAW72191;NP_056444;Q8WWY3 Hs.515598 1335505;1337701;1805376;1806004;1816546;1819578;1819780;1821190;1823328;1823864;1828236;1830058;1830292;1830436;1833194;1836586;1838320;1839528;2041094;2041096;2041098;2041100;2041102;2041104;2041106;2041108;2041110;2041112;2041114;2041116;2041118;2041120;2041122;2041124;2041126;2041128;2041130;2041132;2041134;2041136;2041138;2041140;2041142;2041144;2041146;2041148;2041150;2041152;2041154;2041156;2041158;2041160;2041162;2041164;2041166;2041168;2041170;2041172;2041174;2041176;2041178;2041180;2041182;2041184;2041186;2041188;2041190;2041192;2041194;2041196;2041198;2041200;2041202;2041204;2041206;2041208;2041210;2041212;2041214;2041216;2041218;2041220;2041222;2041224;2041226;2041228;2041230;2041232;2041234;2041236;2041238;2041240;2103578;2103580;2103582;2103584;2103586;2103588;2103590;2103592;2103594;2103596;2103598;2103600;2103602;2103604;2109697;2153109;5015619;5016478;5017170;5022463;5022578;5037552;5117897 D11S3114;D19S180;D19S214;D1S1423;D3S1673;D8S2279;ECD03635;ECD03955;ECD09315;ECD10856;ECD10960;ECD11672;ECD12753;ECD13024;ECD15243;ECD16162;ECD16280;ECD16352;ECD17739;ECD19457;ECD20334;ECD20946;GDB:434012;GDB:631813;L29953;PRPF31_9460;REN91581;REN91582;REN91583;REN91584;REN91585;REN91586;REN91587;REN91588;REN91589;REN91590;REN91591;REN91592;REN91593;REN91594;REN91595;REN91596;REN91597;REN91598;REN91599;REN91600;REN91601;REN91602;REN91603;REN91604;REN91605;REN91606;REN91607;REN91608;REN91609;REN91610;REN91611;REN91612;REN91613;REN91614;REN91615;REN91616;REN91617;REN91618;REN91619;REN91620;REN91621;REN91622;REN91623;REN91624;REN91625;REN91626;REN91627;REN91628;REN91629;REN91630;REN91631;REN91632;REN91633;REN91634;REN91635;REN91636;REN91637;REN91638;REN91639;REN91640;REN91641;REN91642;REN91643;REN91644;REN91645;REN91646;REN91647;REN91648;REN91649;REN91650;REN91651;REN91652;REN91653;REN91654;RH67880;stSG605796;stSG605797;stSG605798;stSG605799;stSG605800;stSG605801;stSG605802;stSG605803;stSG605804;stSG605805;stSG605806;stSG605807;stSG605808;stSG605811 DKFZp566J153;NY-BR-99;PRP31;RP11;SNRNP61 OTTHUMP00000068806;OTTHUMP00000068808;PRP31 pre-mRNA processing factor 31 homolog;U4/U6 small nuclear ribonucleoprotein Prp31;U4/U6 snRNP 61 kDa protein;hPrp31;pre-mRNA-processing factor 31;protein 61K;prp31 pre-mrna processing factor 31 homolog (yeast);serologically defined breast cancer antigen NY-BR-99 APPROVED protein-coding ENSG00000105618 15446 05917 600138;606419 REVIEWED 1318626 PRPF39 PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) 14 14 14 q21.2 25414556 25446057 + 44623052 44654554 + 45553302 45584804 + 1580863;6480464 15489334;16344560;14702039;12477932;21145461;18029348;22863883;21081666;21139048;22773733 55015 F8WB90;G3V5M7;H0YJR1;H0YJY9;Q86UA1 AA290697;ABBA01018048;ABBA01018049;AI476677;AK000673;AK001990;AK127382;AK307530;AK308415;AL121809;AL599626;AMYH01005702;BC020655;BC028683;BC051886;BC125126;BC125127;CH471078;DB339898;DC306976;NM_017922 AAH20655;AAH51886;AAI25127;AAI25128;BAA91318;BAA92024;EAW65786;EAW65787;EAW65788;NP_060392;Q86UA1 Hs.274337 1654711;1684210;1736390;2179630;5022578 D14S649E;D1S1423;G35427;RH91677;SHGC-31929 FLJ11128;FLJ20666;FLJ45460;MGC149842;MGC149843 OTTHUMP00000198297;PRP39 homolog;pre-mRNA-processing factor 39;prp39 pre-mrna processing factor 39 homolog (yeast) protein-coding ENSG00000185246 20314 17913 614907 VALIDATED 1604375 PRPF40B PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and MeCP2. Alternative splicing results in different transcriptional variants. [provided by RefSeq, Jun 2012] 12 12 12 q 48813077 48834123 + 48303670 48324716 + 50017197 50038452 + 6480464;6907045 12477932;9700202;14618241;22939629;10958656;15146197;8889548 25766 F8VU11;H0YII7;Q6NWY9 ABBA01031530;AC020612;AF049525;AK027117;AK123353;AL137459;AL834216;AMYH01004445;BC031917;BC050398;BC067364;BM678253;CH471111;CN288346;NG_032901;NM_001031698;NR_052006 AAC27503;AAH50398;AAH67364;BAB15662;CAB70747;CAD38898;EAW58084;EAW58085;NP_001026868;Q6NWY9 Hs.706827 1649624;1653913;1663511;1683543;2107103;2107795;2109417;2117876;2148137;2164801;2191053 FMNL3__6741;HYPC_9405;MARC_13823-13824:1006879352:1;MARC_34442-34443:1063639913:2;RH48030;RH68421;RH77880;RH91412;STS-N25289;STS-N63095;WI-17686 HYPC Huntingtin interacting protein C;OTTHUMP00000241560;OTTHUMP00000241566;huntingtin yeast partner C;huntingtin-interacting protein C;pre-mRNA-processing factor 40 homolog B APPROVED protein-coding ENSG00000110844 25031 11044 REVIEWED 1322687 PRPF4 PRP4 pre-mRNA processing factor 4 homolog (yeast) The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 q31-q33 115077795 115094877 + 116037914 116055185 + 1580863;6480464;6907045 9257651;9000057;8125298;11418604;16169070;15452143;9404889;9328476;12226669;18687998;17998396;17513757;16723661;15761153;15635413;15489334;12907720;12875835;12477932;11971898;9521884;11350945;11971955;21145461;15257298;17643375;18029348;19615732;9570313;16055720;16226712;16344560;21832049;22863883;22939629;15452250;19738201;22365833;23349634;23667531;16196087;17620599;22446626;20360068;21139048;21890473 9128 O43172;Q5T1M7 AB209797;ABBA01042689;ABBA01042690;AF001687;AF016369;AK225056;AK313131;AL449305;AMYH01021669;AW052006;AY572489;BC001588;BC007424;CA420073;CH471090;CR457105;DA815191;NM_001244926;NM_004697;U82756 AAB87640;AAC02261;AAC51925;AAH01588;AAH07424;AAS78572;ABW03474;ABW03782;BAD93034;BAG35951;CAG33386;EAW87362;EAW87363;NP_001231855;NP_004688;O43172 Hs.744014 2138411;5014055;7183791 D1S3697;D9S1962 HPRP4;HPRP4P;PRP4;Prp4p;SNRNP60 OTTHUMP00000021946;OTTHUMP00000021947;PRP4 homolog;PRP4/STK/WD splicing factor;U4/U6 small nuclear ribonucleoprotein Prp4;U4/U6 snRNP 60 kDa protein;WD splicing factor Prp4 APPROVED protein-coding ENSG00000136875 17349 08479 607795 REVIEWED 1317177 PRPF4B PRP4 pre-mRNA processing factor 4 homolog B (yeast) Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008] 6 6 p25.2 3966568 4010216 + 4021569 4065217 + 1580863;6480464 15452250;16169070;17513757;17620599;9102632;17081983;16964243;16565220;15951569;15592455;15302935;15146197;12477932;12077342;11991638;11418604;10799319;9628581;8274451;17353931;18029348;15324660;19615732;19710015;19902070;20118938;21182205;22939629;22586326;21139048;21693764;18781797;23466643;23084401;22174317;22944692 8899 F5H2U2;H0YDJ3;Q13523 AB011108;ABBA01021997;ABBA01021998;AF283465;AK291244;AK303047;AL033383;AL138831;AMYH01016038;AMYH01016039;AY029347;BC009844;BC034969;CH471087;CN314758;CN314761;NM_003913;U48736;Z25435 AAB03268;AAH09844;AAH34969;AAK38155;AAM19101;BAA25462;BAF83933;BAG64167;CAA80922;EAW55146;EAW55147;EAW55148;EAW55149;EAW55150;EAW55151;NP_003904;Q13523 Hs.159014 1750759;2165161;2166840;2190775 D6S1932;PRP4;SHGC-102104;STS-N39448 KIAA0536;PR4H;PRP4;PRP4H;PRP4K;dJ1013A10.1 OTTHUMP00000015975;OTTHUMP00000195201;OTTHUMP00000233931;PRP4 kinase;PRP4 pre-mRNA-processing factor 4 homolog;dJ1013A10.1 (PRP4 protein kinase homolog);protein-serine/threonine kinase;serine/threonine-protein kinase PRP4 homolog APPROVED protein-coding ENSG00000112739 17346 09087 602338 REVIEWED 5685722 PRPS1P1 phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 2 165070049 165070924 + 100861436 ABBA01004907;AC110078;AMYH01011223;NG_032007 pseudo 39427 INFERRED 1322844 PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 2 2 q23.3 153216353 153282221 - 153508107 153573975 - 6480464;6907045 15383276;17353931;17081983;17065151;16391387;15815621;15489334;15456888;15302935;14702039;12964049;12477932;12460579;12381297;11042152;10508479;9724750;9700202;8605874;11604498;9171351;16169070;10744724;15324660;14603323;11741599;21145461;21628590;17332742;20829478;14618241;15231748;16713569;16055720;16159877;22990118;22939629;18029348;21566141;21900206;18781797;21987572;19471022;21139048;21555454;21890473;21906983;22586326 55660 F5H578;H0YG38;H7BXZ7;H7C2N3;O75400;Q05C41 ABBA01004797;AC012443;AC079344;AF049523;AF049524;AF049528;AF151059;AF155096;AK000592;AK021621;AK024810;AK298547;AK315187;AMYH01011181;BC000273;BC011788;BC027178;BC029414;BC073138;BU753487;EG328171;NM_017892;U70667 AAB93495;AAC27501;AAC27502;AAC27506;AAD42862;AAF36145;AAH11788;AAH27178;AAH29414;AAX88960;BAA91277;BAB15016;BAG37627;BAG60744;NP_060362;O75400 Hs.643580 1673445;1686834;1689973;1696330;1696342;1772421;1848773;2149305;2170066;2176885;5106415;5491902 GCT16H02;Prpf40a;RH118416;RH65561;RH68219;RH77916;RH79084;RH92158;RH93911;SHGC-36777;SHGC-77756;WI-16116 FBP-11;FBP11;FLAF1;FLJ20585;FNBP3;HIP-10;HIP10;HYPA;NY-REN-6;Prp40 Fas-ligand associated factor 1;Huntingtin-interacting protein A;NY-REN-6 antigen;OTTHUMP00000204906;fas ligand-associated factor 1;formin binding protein 3;formin-binding protein 11;formin-binding protein 3;huntingtin yeast partner A;huntingtin-interacting protein 10;pre-mRNA-processing factor 40 homolog A;renal carcinoma antigen NY-REN-6 protein-coding ENSG00000196504 16463 612941 VALIDATED 1342492 PRPS1P2 phosphoribosyl pyrophosphate synthetase 1 pseudogene 2 9 9 98560867 98561801 + 127912933 127913867 + 1962753;2536962;1962753;2536962 100421295 ABBA01043775;AL445930;AMYH01021710;NG_023956 1735862 D9S991E PRPS1L2 APPROVED pseudo 9464 INFERRED 735709 PRPH2 peripherin 2 (retinal degeneration, slow) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008] 6 6 p21.2-p12.3 42772314 42798287 - 42664333 42690358 - 1580863;6480464;6907045;7240710 1749427;19262438;19243827;19038374;18328765;18050133;17698758;17671712;17653047;17504850;17362467;17249552;17148040;17031298;16885924;16832026;16767206;16340530;16019073;15591062;15370544;14557183;14557182;12902384;12882809;12724643;12608515;12477932;12019563;11934323;11739647;11641407;11485765;10681511;10627133;10426285;9885962;9443872;9338584;8956033;8485576;8485574;8449524;8020945;8019570;7862413;7519821;7493155;2918924;1992463;1684223;1679750;1539599;1427912;12566026;19506198;19921174;19958124;20801516;20335603;22466463;21269699;20213611;21071739;20458258;22863181;20301590;22174098;22842402;22948568 5961 P23942;Q16228 ABBA01050724;ABBA01050725;AL049843;AMYH01016306;BC074720;CH471081;M62958;M73531;NG_009176;NM_000322;S73627;U07149 AAA16958;AAA60260;AAB31191;AAH74720;EAX04098;NP_000313;P23942 Hs.654489 1672901;1741537;1744259;1793176;1793988;2110699;2182558 D6S1872;GDB:181434;GDB:439265;PMC197259P1;PMC310725P5;RDS__6879;RH17733 AOFMD;AVMD;CACD2;DS;PRPH;RDS;RP7;TSPAN22;rd2 OTTHUMP00000016404;peripherin 2;peripherin 2, homolog of mouse;peripherin, photoreceptor type;peripherin-2;retinal degeneration slow protein;retinal peripherin;tetraspanin-22;tspan-22 APPROVED protein-coding ENSG00000112619 9942 01553 136880;169150;179605;608133;608161;613105 REVIEWED 1314887 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 18046381 18047465 - 18032922 18034011 - 18066397 18067486 - 5135488;6480464;6907045 20005278 2168892;12477932;11181995;1314091;21145461;20811636;21734401;21906983;21628590 221823 P21108 AACC02000008;ABBA01056647;AC080080;AMYH01017097;BC005309;BC062797;CH236948;CH471073;M57423;NM_175886 AAB59463;AAH62797;EAW93700;NP_787082;P21108 Hs.169284 2106575 PRPS1L1__5597 PRPS1;PRPS3;PRPSL;PRS-III OTTHUMP00000202305;PRPS1-like 1;phosphoribosyl pyrophosphate synthase 1-like 1;phosphoribosyl pyrophosphate synthase III;phosphoribosylpyrophosphate synthetase subunit III;ribose-phosphate diphosphokinase catalytic chain III;ribose-phosphate pyrophosphokinase 3;ribose-phosphate pyrophosphokinase III APPROVED protein-coding ENSG00000229937 9463 17914 611566 REVIEWED 1316097 PRPF6 pre-mRNA processing factor 6 The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008] 20 20 q13.33 62082875 62134897 + 62612431 62664453 + 6480464;6907045 21549338;10788320;16414017;12620389;16341228;17353931;15840814;15489334;15342556;15161931;14702039;12943705;12477932;12039962;11991638;11780052;10848612;10561546;8125298;15146077;20696395;12226669;15257298;17643375;18278469;19615732;20118938;20237496;22939629;17332742;19596686;20360068;20508642;23022380;17314511;21252943;16230076;22678362;19471022;21139048;21890473;21906983;20301590;22586326;21150319;21963094;22365833;22751105;23000965;23752268;16723661;22174317 24148 Q9NTE6 AB019219;ABBA01021435;ABBA01021436;ABBA01021437;ABBA01021438;AF026031;AF221842;AK001554;AK225993;AK314310;AL118506;AL137320;AL355803;AL356790;AMYH01012096;BC001666;BI562505;BP366197;CH471077;CQ834642;NG_029719;NM_012469 AAD01798;AAF66128;AAH01666;BAA37140;BAG36962;BAG50938;CAB70695;CAH05536;EAW75174;EAW75175;EAW75176;EAW75177;EAW75178;EAW75179;NP_036601;O94906 Hs.31334 5113673 RH79731 ANT-1;ANT1;C20orf14;Prp6;SNRNP102;TOM;U5-102K;hPrp6 OTTHUMP00000031625;PRP6 homolog;PRP6 pre-mRNA processing factor 6 homolog;U5 snRNP-associated 102 kDa protein;U5-102 kDa protein;androgen receptor N-terminal domain transactivating protein-1;androgen receptor N-terminal domain-transactivating protein 1;chromosome 20 open reading frame 14;p102 U5 small nuclear ribonucleoprotein particle-binding protein;pre-mRNA-processing factor 6;putative mitochondrial outer membrane protein import receptor APPROVED protein-coding ENSG00000101161 15860 10729 613979;613983 REVIEWED 1353000 PRR1 proline rich 1 (prostatic) 1300407;7240710 2630192 5637 9468 225060 733911 PRPH peripherin This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] 12 12 q12-q13 47975176 47978748 + 49688909 49692481 + 1580863;6480464;6907045;7240710 1378416;18709437;18528283;18408015;18287500;17851265;17569669;16787413;16189514;15489334;15322088;14702039;14675609;12477932;12403814;12358815;12223549;11835375;10728817;9453548;9414188;9085149;8381395;7976309;7806235;7622044;1986862;21145461;10681511;20363051;21241994;21139048;21890473;21963094;21987572;22053931;23106098;20533992;21088854;22939629;19156129;22360420;18781797;21900206;21906983;22178446;21743467;20301623;23179371;22505724 5630 B3KWQ6;F8W835;H7C5W5;P41219 AA460760;ABBA01031517;ABBA01031518;AC125611;AK125587;AMYH01004441;BC032703;BF448012;CH471111;CQ772262;L14565;NG_008354;NM_006262 AAA60190;AAH32703;ABM84284;ABM87676;BAG54218;CAF33862;EAW58060;EAW58061;NP_006253;P41219 Hs.37044 1664637;1744025;2217852 GDB:384860;PRPH_2980;STS-L14565 NEF4;PRPH1 OTTHUMP00000235301;OTTHUMP00000235303;OTTHUMP00000235304;neurofilament 4 (57kD);peripherin;peripherin 1 APPROVED protein-coding 9461 01365 105400;136880;169150;170710;608133;608161;613105 REVIEWED 1313510 PRPF8 pre-mRNA processing factor 8 Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008] 17 17 p13.3 1500673 1534926 - 1553923 1588176 - 1599210;6480464;6907045;7240710 11468273 9774689;17353931;12226669;19096719;18843295;18695108;17317632;17061239;16344560;15840809;15786732;15489334;12840015;12714658;12601059;12477932;11971955;11910553;11006293;10983979;10828595;10809668;10411133;10024169;9303319;8702566;8608445;8571961;8125298;7951236;7573060;7489518;2532307;2527369;2479028;2139226;15146077;18951082;11350945;21145461;20232351;19913121;20628086;20696395;20705733;12054535;15034300;15346200;17643375;18425143;19615732;20801516;16055720;16159877;19454010;11991638;19875381;23084401;21378395;22939629;23022380;21252943;16196087;20595234;20810990;15848144;18457437;18781797;19596686;20360068;20639865;21081666;21987572;22039234;22118674;22178446;17332742;21575865;19471022;21139048;21890473;21906983;21963094;22354994;22446626;22586326;20301590;17632523;19738201;19805454;22365833;22569250;22623428;23000965;23455922;23463506;23704370;16723661;22174317;22505724 10594 I3L0J9;I3L1T8;I3L3Z8;Q6P2Q9 AB007510;ABBA01054669;AC130343;AF092565;AK058034;AK126169;AK222905;AK296344;AMYH01008002;AY486134;AY486135;BC000579;BC034545;BC064370;BX649099;CD698473;CH471108;DB081408;NG_009118;NM_006445 AAC61776;AAH64370;AAS64747;AAS64748;BAA22563;BAD96625;BAG59028;EAW90588;EAW90589;EAW90590;EAW90591;EAW90592;EAW90593;EAW90594;NP_006436;Q6P2Q9 Hs.181368 1339353;1340644;1675881;1758425;2119014;5015959;5022588;5491987 D10S2448;D17S1529;D17S831;D5S1597E;PRPF8;RH92048;SHGC-148294;STS-W58284 HPRP8;PRP8;PRPC8;RP13;SNRNP220 220 kDa U5 snRNP-specific protein;OTTHUMP00000115657;PRP8 homolog;PRP8 pre-mRNA processing factor 8 homolog;U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p;apoptosis-regulated protein 1;apoptosis-regulated protein 2;p220;pre-mRNA-processing-splicing factor 8;precursor mRNA processing protein;prp8 pre-mrna processing factor 8 homolog (yeast);splicing factor Prp8 APPROVED protein-coding ENSG00000174231 17340 06295 600059;607300 REVIEWED 736625 PRPS1 phosphoribosyl pyrophosphate synthetase 1 This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] X X q22.3 106758415 106780912 + 106871654 106894256 + 1599725;1300048;5134990;5135488;6480464;6907045;7240710 8253776;7593598;20005278 8882866;16939420;4328836;17701900;12847698;17701896;19161981;18409517;16682768;16236267;16189514;15955956;15943588;15489334;12477932;10066814;9366267;8702702;8125298;2155397;1962753;1650777;1314091;20544509;20021999;20380929;15240907;8968763;16196087;22863883;20462248;23184937;22939629;21139048;21890473;21906983;21987572;22132986;21869827;22246954;20301607;21628590;22792159;21963094;23190330;22505724;20301532;20301731;20301734;20301738;21834172 5631 B1ALA7;B1ALA9;B4DNL6;B7ZB02;P60891 ABBA01035916;ABBA01035917;ABBA01035918;ABBA01035919;ABBA01035920;AK223169;AK297968;AK307748;AK312706;AK316467;AL137787;AL772400;AMYH01022832;BC001605;CH471120;D00860;D28133;DC411129;NG_008407;NM_001204402;NM_002764;X15331 AAH01605;ABM86759;ABW03813;BAA00733;BAA05675;BAD96889;BAG35584;BAG60278;BAH14838;CAA33386;EAX02709;EAX02710;EAX02711;NP_001191331;NP_002755;P60891 Hs.56 1694074;2108399;2177083 AL035129;PRPS1_8569;RH36177 ARTS;CMTX5;DFN2;DFNX1;KIAA0967;PPRibP;PRS-I;PRSI OTTHUMP00000023807;OTTHUMP00000023809;PRS-I;dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1);deafness 2, perceptive, congenital;deafness, X-linked 2, perceptive, congenital;phosphoribosyl pyrophosphate synthase I;ribose-phosphate diphosphokinase 1;ribose-phosphate pyrophosphokinase 1 APPROVED protein-coding ENSG00000147224 9462 02413 300661;301835;304500;311070;311850 REVIEWED 737326 PRPS2 phosphoribosyl pyrophosphate synthetase 2 This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] X X p22.2 12719414 12752264 + 12809474 12842346 + 1580863;1300048;5135488;6480464;6907045 20005278 2538352;18677108;18409517;15489334;12477932;9366267;7572345;2560337;2537655;2536962;1962753;1602151;1314091;16344560;8889548;22863883;22939629;21139048;21890473;21906983;19322201;21853274;22505724 5634 A6NMS2;D3YTJ7;H7C540;P11908 ABBA01071034;ABBA01071035;ABBA01071036;ABBA01071037;ABBA01071038;AC005859;AK310332;AK313246;AMYH01022091;BC030019;BC040483;BC110875;BC119662;BC119663;BU675363;CH471074;CR988262;D28134;DA478574;NG_016717;NM_001039091;NM_002765;Y00971 AAH30019;AAH40483;AAI10876;AAI19663;AAI19664;BAA05676;BAG36057;CAA68785;EAW98805;EAW98806;NP_001034180;NP_002756;P11908 Hs.654581 1663544;1702634;1724945;1742949;2123740 DXS8283;GDB:192492;GDB:216878;RH119240;RH12477 PRSII OTTHUMP00000022921;OTTHUMP00000214964;OTTHUMP00000214965;PPRibP synthetase;PRS-II;phosphoribosyl pyrophosphate synthase II;ribose-phosphate diphosphokinase 2;ribose-phosphate pyrophosphokinase 2 APPROVED protein-coding ENSG00000101911 9465 02414 311860 REVIEWED 733778 PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 17 17 17 q24-q25 70901207 70943527 - 71818610 71861526 - 74306868 74350230 - 1580863;6480464 8132556;17353931;8611620;16344560;16189514;15489334;12477932;9366267;8660991;7572345;21145461;16169070;19447967;17207965;20462248;22863883;22939629;22990118;21139048;21906983;21890473;21988832;22678362;23000965;23263486 5635 B4DP31;C9J168;C9JKT9;C9JNQ3;C9JUN4;Q14558 ABBA01028746;ABBA01028747;AC090699;AI289298;AK131332;AK298171;AK312637;AMYH01008640;AMYH01008641;AMYH01008642;AMYH01008643;BC009012;CH471099;D61391;DB031565;NM_002766 AAH09012;ADQ32753;BAA09612;BAG35521;BAG60443;EAW89386;EAW89387;NP_002757;Q14558 Hs.77498 PAP39 39 kDa phosphoribosypyrophosphate synthase-associated protein;OTTHUMP00000208977;OTTHUMP00000208978;PRPP synthase-associated protein 1;phosphoribosyl pyrophosphate synthase-associated protein 1 protein-coding 9466 03151 601249 VALIDATED 1604599 PRR14 proline rich 14 16 16 16 p11.2 29631084 29636577 - 30569742 30575235 + 30662241 30667734 + 6480464 16189514;12477932;20562864;21832049;19156129;21900206;21890473;18654987;19322201 78994 H3BND2;H3BQL8;Q9BWN1 ABBA01042047;ABBA01042048;AC093249;AK074783;AK125716;AMYH01007497;BC000119;BC010232;BC011573;BC021934;BC050677;CH471192;CQ783670;CR936781;HI574218;NM_024031 AAH00119;AAH10232;AAH21934;AAH50677;ABM83770;ABM87089;BAC11207;CAF86803;CBX47598;EAW52221;EAW52222;EAW52223;EAW52224;EAW52225;EAW52226;EAW52227;NP_076936;Q9BWN1 Hs.293629 1334845;1701432;1707614 D16S685;RH104348;SHGC-84622 DKFZp781A13198;MGC3121 OTTHUMP00000163251;proline-rich protein 14 protein-coding ENSG00000156858 28458 14541 PROVISIONAL 732905 PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 17 17 17 p11.2-p12 20676623 20748896 + 18702217 18775305 + 18759612 18834600 + 1580863;6480464 21145461;9545573;17081983;15489334;12477932;9806849;16169070;20686608;20462248;16344560;21832049;22863883;21139048;21890473;21906983 5636 B4E329;C9JDH0;C9JDU5;C9JJS3;C9JLZ5;C9K0K7;E7EPA1;E7EW35;I3L0S1;I3L164;I3L1T1;I3L275;I3L2J4;I3L331;I3L3B8;I3L4G9;O60256 AB007851;ABBA01013324;ABBA01013325;ABBA01013326;ABBA01013327;ABBA01013328;AC090286;AC107982;AI379788;AI955172;AK126398;AK303911;AK304544;AK313087;AL535304;AMYH01008186;AMYH01008187;BC101670;BC101672;BC106050;BC143475;BX648850;CH471276;CR457082;DA257655;DC424578;NM_001243936;NM_001243940;NM_001243941;NM_001243942;NM_002767 AAI01671;AAI01673;AAI06051;AAI43476;BAA25435;BAC86540;BAG35912;BAG64840;BAG65341;CAG33363;EAW50432;EAW50433;EAW50434;EAW50435;EAW50436;EAW50437;EAW50438;NP_001230865;NP_001230869;NP_001230870;NP_001230871;NP_002758;O60256 Hs.632236 1644159;1725619;1732147;1732149;2106577 D7S836;D7S845;G62025;PRPSAP2__5598;RH15612 MGC117304;MGC126719;MGC126721;PAP41 41 kDa phosphoribosypyrophosphate synthetase-associated protein;OTTHUMP00000065716;OTTHUMP00000065717;OTTHUMP00000065718;OTTHUMP00000065720;OTTHUMP00000065721;OTTHUMP00000065724;PRPP synthase-associated protein 2;phosphoribosyl pyrophosphate synthase-associated protein 2 APPROVED protein-coding ENSG00000141127 9467 04789 603762 REVIEWED 1601861 PRR11 proline rich 11 17 17 17 q22 53695876 53773684 + 54587875 54633929 + 57232860 57284070 + 6480464 17672918;17081983;15489334;14702039;12477932;11799066;8125298;16344560;17207965;21139048;21906983 55771 D2SNZ4;J3QKY4;J3QQS2;J3QR53;J3QRV0;Q96HE9 ABBA01041364;ABBA01041365;ABBA01041366;ABBA01041367;AC099850;AK000296;AK001891;AK225377;AK225380;AL711011;AMYH01008517;AW957315;BC008669;CH471109;DA649803;DB106349;FJ161961;NM_018304 AAH08669;ACL14948;ADQ32320;BAA91064;BAA91964;EAW94416;EAW94417;EAW94418;NP_060774;Q96HE9 Hs.631750 1665578;1665580;1691726;1691780;1694570;1734478;1767425;1776221;2176425;5015404;5015881;5016596;5020946;5021396;5022200;5022450;5022578;5022588;5022651;5024039;5024413;5118444;5491689 A006J47;D10S275;D11S2921;D11S3316;D16S325;D17S1438E;D1S1423;D5S1597E;G20885;G42209;G42246;G43265;GDB:313783;GDB:335751;GDB:631802;L17705;L17877;L17971;L18426;MARC_7919-7920:996688168:1;RH35809;RH78414;SHGC-58229 FLJ11029 proline-rich protein 11;transcription repressor of MHCII protein-coding 25619 07726 VALIDATED 1604010 PRR13 proline rich 13 12 12 12 q12 53485803 53490798 + 52121700 52126694 + 53835433 53840427 + 6480464 19435835;16847352;16189514;15489334;15146197;12477932;11230166;11042152;16169070;17207965;21157449;18029348 54458 F8VP70;F8VRX0;F8VU40;F8VWB5;F8VZP4;F8W1R5;Q9NZ81 ABBA01008339;AC068889;AF217517;AK074398;AL122042;AMYH01004480;BC001464;BC004512;BC014257;BC016064;BC021019;BC062322;BC066943;BC071979;BK005847;BX640962;CH471054;CN392914;CR533459;NM_001005354;NM_018457 AAF67628;AAH14257;AAH16064;AAH66943;ADQ32956;ADZ15792;CAE45980;CAG38490;DAA05782;EAW96702;EAW96703;EAW96704;EAW96705;NP_001005354;NP_060927;Q9NZ81 Hs.426359 1691330;1747733;5021575 D3S4196;G64247;SHGC-187 DKFZp564J157;FLJ23818;FLJ58476;TXR1 OTTHUMP00000242710;OTTHUMP00000242711;OTTHUMP00000242712;OTTHUMP00000242715;OTTHUMP00000242716;OTTHUMP00000242717;OTTHUMP00000242718;OTTHUMP00000242720;proline-rich protein 13;taxane-resistance protein protein-coding ENSG00000205352 24528 13211 610459 VALIDATED 1320487 PRR12 proline rich 12 19 19 19 q13.33 46964251 46999029 + 54786724 54821508 + 50094912 50129696 + 6480464 17081983;15489334;12477932;10737800;10574462;8889548;22939629;21906983;22505724 57479 Q9ULL5 AB033031;ABBA01032915;ABBA01032916;AC010619;AC011495;AMYH01009915;BC034003;BF805116;BF933932;BM684867;BM723432;NM_020719 AAH34003;BAA86519;NP_065770;Q9ULL5 Hs.590971 1793820;2109699 PMC29263P1;PRRG2_8571 KIAA1205 proline-rich protein 12 protein-coding ENSG00000126464 29217 VALIDATED 1604500 PRR14L proline rich 14-like 22 22 22 q12.2 15877774 15946562 - 30402242 30438731 - 32077333 32146120 - 6480464 16344560;15461802;14702039;12477932;20379614;17207965;19875381;19156129;21139048;21890473;22505724 253143 C9J9V0;H3BLU3;H7BZH1;H7C1B0;Q5THK1 ABBA01055344;ABBA01055345;ABBA01055346;ABBA01055347;AC005004;AK055930;AK090566;AK123082;AK130944;AL031255;AMYH01012722;BC040859;BX647272;CD697995;CH471095;CT841517;DA861907;NM_173566 AAH40859;ADQ33107;BAC85470;BAC85533;CAJ86447;EAW59992;EAW59993;EAW59994;EAW59995;NP_775837;Q5THK1 Hs.438906 1700010;1798366;1798488;1799056;1799130;1799274;1805232;1805998;1807682;1809550;1811692;1812856;1813296;1814182;1817656;1818422;1818860;1819378;1820468;1821710;1823646;1826062;1826670;1827380;1828760;1829444;1830180;1830340;1831322;1831502;1832658;1833356;1834724;1835730;1837076;1838038;1842036;1842264;1842782;1843022;1843716;1844084;1844906;1857451;2007878;2007880;2007910;2007912;2007914;2007916;2007918;2007920;2007922;2007924;2007926;2007928;2007930;2007932;2007934;2007936;2007938;2007940;2007942;2007944;2007946;2007948;2007950;2007952;2007954;2007956;2007958;2007960;2007962;2007964;2007966;2007968;2007970;2007972;2007974;2007976;2007978;2007980;2007982;2007984;2007986;2007988;2007990;2007992;2007994;2007996;2007998;2008000;2008002;2008004;2008006;2008008;2008010;2008012;2008014;2008016;2008018;2008020;2008022;2008024;2008026;2008028;2008030;2008032;2008034;2008036;2008038;2008040;2008042;2008044;2008046;2008048;2008050;2008052;2008054;2008056;2008058;2008060;2008062;2008064;2008066;2008068;2008070;2008072;2008074;2008076;2008078;2008080;2008082;2008084;2008086;2008088;2008090;2008092;2008094;2008096;2008098;2008100;2008102;2008104;2008106;2008108;2008110;2008112;2008114;2008116;2008118;2008120;2008122;2008124;2008126;2008128;2008130;2008132;2008134;2008136;2008138;2008140;2008142;2008144;2008146;2008148;2008150;2008152;2008154;2008156;2008158;2008160;2008162;2008164;2008166;2008168;2008170;2008172;2008174;2008176;2008178;2008180;2008182;2008184;2008186;2008188;2008190;2008192;2008194;2008196;2008198;2008200;2008202;2008204;2008206;2008208;2008210;2008212;2008214;2008216;2008218;2008220;2008222;2008224;2008226;2008228;2008230;2008232;2008234;2008236;2008238;2008240;2008242;2008244;2008246;2008248;2008250;2008252;2008254;2008256;2008258;2008260;2008262;2008264;2008266;2008268;2008270;2008272;2008274;2008276;2008278;2008280;2008282;2008284;2008286;2008288;2008290;2008292;2008294;2008296;2008298;2008300;2008302;2008304;2008306;2008308;2008310;2008312;2008314;2008316;2008318;2008320;2008322;2008324;2008326;2008328;2008330;2008332;2008334;2008336;2008338;2008340;2008342;2008344;2008346;2008348;2008350;2008352;2008354;2008356;2008358;2008360;2008362;2008364;2008366;2008368;2008370;2008372;2008374;2008376;2008378;2008380;2008382;2008384;2008386;2008388;2008390;2008392;2008394;2008396;2008398;2008400;2008402;2008404;2008406;2008408;2008410;2008412;2008414;2008416;2008418;2008420;2008422;2008424;2008426;2008428;2008430;2097708;2097710;2097712;2097714;2097716;2097718;2097720;2097722;2097724;2097726;2097728;2097730;2097732;2097734;2097736;2097738;2097740;2097742;2097744;2097746;2097748;2097750;2097752;2097754;2097756;2097758;2097760;2097762;2097764;2097766;2097768;2097770;2097772;2097774;2097776;2097778;2097780;2097782;2097784;2097786;2097788;2097790;2097792;2148544;2154026;7186605 D22S15;ECD00018;ECD00081;ECD00373;ECD00411;ECD00485;ECD03560;ECD03952;ECD04813;ECD05767;ECD06850;ECD07441;ECD07668;ECD08120;ECD09880;ECD10269;ECD10494;ECD10756;ECD11309;ECD11941;ECD12915;ECD14140;ECD14449;ECD14805;ECD15507;ECD15853;ECD16223;ECD16304;ECD16797;ECD16888;ECD17470;ECD17821;ECD18510;ECD19022;ECD19702;ECD20190;ECD22221;ECD22335;ECD22598;ECD22719;ECD23069;ECD23255;ECD23669;REN74856;REN74857;REN74872;REN74873;REN74874;REN74875;REN74876;REN74877;REN74878;REN74879;REN74880;REN74881;REN74882;REN74883;REN74884;REN74885;REN74886;REN74887;REN74888;REN74889;REN74890;REN74891;REN74892;REN74893;REN74894;REN74895;REN74896;REN74897;REN74898;REN74899;REN74900;REN74901;REN74902;REN74903;REN74904;REN74905;REN74906;REN74907;REN74908;REN74909;REN74910;REN74911;REN74912;REN74913;REN74914;REN74915;REN74916;REN74917;REN74918;REN74919;REN74920;REN74921;REN74922;REN74923;REN74924;REN74925;REN74926;REN74927;REN74928;REN74929;REN74930;REN74931;REN74932;REN74933;REN74934;REN74935;REN74936;REN74937;REN74938;REN74939;REN74940;REN74941;REN74942;REN74943;REN74944;REN74945;REN74946;REN74947;REN74948;REN74949;REN74950;REN74951;REN74952;REN74953;REN74954;REN74955;REN74956;REN74957;REN74958;REN74959;REN74960;REN74961;REN74962;REN74963;REN74964;REN74965;REN74966;REN74967;REN74968;REN74969;REN74970;REN74971;REN74972;REN74973;REN74974;REN74975;REN74976;REN74977;REN74978;REN74979;REN74980;REN74981;REN74982;REN74983;REN74984;REN74985;REN74986;REN74987;REN74988;REN74989;REN74990;REN74991;REN74992;REN74993;REN74994;REN74995;REN74996;REN74997;REN74998;REN74999;REN75000;REN75001;REN75002;REN75003;REN75004;REN75005;REN75006;REN75007;REN75008;REN75009;REN75010;REN75011;REN75012;REN75013;REN75014;REN75015;REN75016;REN75017;REN75018;REN75019;REN75020;REN75021;REN75022;REN75023;REN75024;REN75025;REN75026;REN75027;REN75028;REN75029;REN75030;REN75031;REN75032;REN75033;REN75034;REN75035;REN75036;REN75037;REN75038;REN75039;REN75040;REN75041;REN75042;REN75043;REN75044;REN75045;REN75046;REN75047;REN75048;REN75049;REN75050;REN75051;REN75052;REN75053;REN75054;REN75055;REN75056;REN75057;REN75058;REN75059;REN75060;REN75061;REN75062;REN75063;REN75064;REN75065;REN75066;REN75067;REN75068;REN75069;REN75070;REN75071;REN75072;REN75073;REN75074;REN75075;REN75076;REN75077;REN75078;REN75079;REN75080;REN75081;REN75082;REN75083;REN75084;REN75085;REN75086;REN75087;REN75088;REN75089;REN75090;REN75091;REN75092;REN75093;REN75094;REN75095;REN75096;REN75097;REN75098;REN75099;REN75100;REN75101;REN75102;REN75103;REN75104;REN75105;REN75106;REN75107;REN75108;REN75109;REN75110;REN75111;REN75112;REN75113;REN75114;REN75115;REN75116;REN75117;REN75118;REN75119;REN75120;REN75121;REN75122;REN75123;REN75124;REN75125;REN75126;REN75127;REN75128;REN75129;REN75130;REN75131;REN75132;RH103617;SGC32795;SHGC-57552;stSG602213;stSG602214;stSG602215;stSG602216;stSG602217;stSG602218;stSG602219;stSG602220;stSG602221;stSG602222;stSG602224;stSG602225;stSG602226;stSG602227;stSG602228;stSG602229;stSG602230;stSG602231;stSG602232;stSG602233;stSG602234;stSG602235;stSG602236;stSG602237;stSG602238;stSG602239;stSG602240;stSG602241;stSG602242;stSG602243;stSG602244;stSG602245;stSG602246;stSG602248;stSG602249;stSG602250;stSG602251;stSG602252;stSG602253;stSG602255;stSG602256;stSG602257;stSG602258 C22orf30;DKFZp781P2328;FLJ23059;FLJ31368;FLJ33247;MGC50372;RP4-694E4.2 OTTHUMP00000028545;hypothetical protein LOC253143;proline rich 14-like protein;protein PRR14L APPROVED protein-coding ENSG00000183530 28738 14665 VALIDATED 3322145 PRR20B proline rich 20B This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 56619623 56622644 + 57721622 57724643 + 15057823 729233 P86478;P86479;P86480;P86481;P86496 ABBA01037020;AK097615;AL353652;BC120931;BC120932;NM_001130404 AAI20932;AAI20933;NP_001123876;P86481 Hs.525056;Hs.723090 FLJ40296 protein family member;proline-rich protein 20B APPROVED protein-coding ENSG00000204918 37220 VALIDATED 3322138 PRR20C proline rich 20C This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 56626196 56629217 + 57728195 57731216 + 15057823 729240 P86478;P86479;P86480;P86481;P86496 AK097615;AL353652;BC120931;BC120932;NM_001130405 AAI20932;AAI20933;NP_001123877;P86479 Hs.525056;Hs.723090 FLJ40296 protein family member;proline-rich protein 20C APPROVED protein-coding ENSG00000229665 37221 VALIDATED 3322131 PRR20D proline rich 20D This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 56632767 56635788 + 57734766 57737787 + 15057823 729246 P86478;P86479;P86480;P86481;P86496 AK097615;AL353652;BC120931;BC120932;NM_001130406 AAI20932;AAI20933;NP_001123878;P86480 Hs.525056;Hs.723090 FLJ40296 protein family member;proline-rich protein 20D APPROVED protein-coding ENSG00000227151 37222 VALIDATED 1601848 PRR15L proline rich 15-like 17 17 17 q21.32 42482154 42487934 - 43384332 43390109 - 46029333 46035243 - 6480464 12477932;17207965;16341674;22949513 79170 Q59GS3;Q9BU68 AA707319;AA916635;ABBA01041150;AC018521;AK309589;AMYH01008451;BC002865;BM829856;BM831136;CH471109;NM_024320 AAH02865;ADQ32779;EAW94779;EAW94780;NP_077296;Q9BU68 Hs.368260 2114857;2154642;2179673 RH17497;RH78684;SHGC-34724 ATAD4;MGC11242 ATPase family, AAA domain containing 4;proline-rich protein 15-like protein APPROVED protein-coding ENSG00000167183 28149 14412 VALIDATED 2306723 PRR21 proline rich 21 2 2 q37.3 240629903 240631072 - 240981230 240982399 - 6480464 643905 Q8WXC7 ABBA01048858;AC013469;AF453950;AMYH01011616;NM_001080835;XM_003960316 AAL41025;NP_001074304;Q8WXC7;XP_003960365 Hs.693479 2219382 OR6B3__5930 OTTHUMP00000214274;putative proline-rich protein 21 protein-coding ENSG00000221961 33866 PROVISIONAL 1603877 PRR15 proline rich 15 7 7 7 p14.3 29592943 29596427 + 29569952 29573436 + 29603427 29606911 + 6480464 15489334;12690205;12477932;21061267;17207965;21832049;19605793 222171 A4D1A1;C9JQ22;Q8IV56 AACC02000007;ABBA01056799;AC007255;AMYH01017142;BC018144;BC029131;CH236948;CH471073;FJ857942;NM_175887 AAH29131;ACQ82722;ADQ32860;EAL24204;EAW93920;NP_787083;Q8IV56 Hs.91109 1686668 RH92381 OTTHUMP00000158701;OTTHUMP00000202286;proline-rich protein 15 protein-coding ENSG00000176532 22310 14136 PROVISIONAL 2312708 PRR23A proline rich 23A 3 3 3 q23 137149254 137151560 - 140207000 140207800 - 138722804 138725110 - 16641997 729627 A6NEV1 ABBA01059071;AC130416;AMYH01013536;NM_001134659 A6NEV1;NP_001128131 Hs.121314 OTTHUMP00000218629;UPF0572 protein ENSP00000372650;proline-rich protein 23A;proline-rich protein 23C protein-coding ENSG00000206260 37172 VALIDATED 1602486 PRR16 proline rich 16 5 5 5 q23.1 115751492 115974376 + 119827918 120050864 + 119800019 120022965 + 6480464 15971941;12477932;20379614;23080069;21832049;19953087;22321011;22610502 51334 D6RGF0;Q569H4 ABBA01068974;ABBA01068975;AC093301;AC104110;AC113418;AC144990;AF242769;AMYH01015579;BC038838;BC092474;NM_016644 AAF65446;AAH38838;AAH92474;NP_057728;Q569H4 Hs.157461 1714737;1718197;1720695;1721515;1749169;1749453;1785326;1785394;5094170 G54587;G59165;G59612;RH120033;RH122868;SHGC-110858;SHGC-111182;SHGC-111918;SHGC-142656 DSC54;MGC104614 OTTHUMP00000159145;mesenchymal stem cell protein DSC54;proline-rich protein 16 protein-coding ENSG00000184838 29654 14239 PROVISIONAL 3322124 PRR20E proline rich 20E This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 56639332 56642353 + 57741331 57744352 + 15057823 729250 P86478;P86479;P86480;P86481;P86496 AK097615;AL353652;BC120931;BC120932;NM_001130407 AAI20932;AAI20933;NP_001123879;P86478 Hs.525056 FLJ40296 protein family member;proline-rich protein 20E APPROVED protein-coding ENSG00000234278 37223 VALIDATED 1602803 PRR23C proline rich 23C 3 3 3 q23 137187214 137190001 - 140245364 140246418 - 138760944 138763734 - 16641997 389152 Q6ZRP0 ABBA01059067;AC069525;AK128089;AMYH01013536;NM_001134657 BAC87269;NP_001128129;Q6ZRP0 Hs.531377 5015619;5024039;5037552 D11S3114;D16S325;D8S2279 FLJ46210 OTTHUMP00000218628;proline-rich protein 23A;proline-rich protein 23C protein-coding ENSG00000233701 37173 13526 VALIDATED 1602265 PRR25 proline rich 25 16 16 16 p13.3 1055329 1063748 + 795444 803862 + 855443 863861 + 11157797 388199 Q96S07 ABBA01030342;ABBA01030343;AE006465;AL023882;AL031033;AMYH01007009;NM_001013638 AAI56146;AAI56985;AAK61258;NP_001013660;Q96S07 Hs.528461 gs64 proline-rich protein 25 APPROVED protein-coding ENSG00000167945 37230 18379 PROVISIONAL 1601804 PRR18 proline rich 18 6 6 6 q27 167458534 167461239 - 166639158 166641861 - 166719168 166721871 - 6480464 12477932;20834067 285800 E9PL31;Q8N4B5 ABBA01033445;AL121956;AMYH01016848;BC034775;CH471051;NM_175922 AAH34775;EAW47536;NP_787118;Q8N4B5 Hs.731862 MGC35308 OTTHUMP00000234831;hypothetical protein mgc35308;proline rich region 18;proline-rich protein 18 APPROVED protein-coding ENSG00000176381 28574 17533 VALIDATED 1604489 PRR19 proline rich 19 19 19 19 q13.2 39607080 39615768 + 47498124 47506813 + 42806284 42814973 + 6480464 12477932;16341674 284338 A6NJB7;M0QXP7 ABBA01040846;AC006486;AI208291;AK124116;AK291528;AMYH01009830;AMYH01009831;AMYH01009832;AW451766;BC063021;BM762502;CH471126;NM_199285 A6NJB7;AAH63021;BAF84217;BAG54010;EAW57127;NP_954979 Hs.585901 1734692;2144841;5015861;5017266;5022425;5024761;5037552;7185938 D10S16;D19S691E;D19S827;D22S296;D8S2279;L18506;RH36905 MGC70924 proline-rich protein 19 protein-coding ENSG00000188368 33728 14703 VALIDATED 1603591 PRR20A proline rich 20A This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008] 13 13 q21.1 56613053 56616074 + 57715052 57718073 + 14702039;12477932;20662561;15057823 122183 P86478;P86479;P86480;P86481;P86496 ABBA01144432;AK097615;AL353652;AMYH01005140;AMYH01005141;AMYH01005142;AMYH01005143;AMYH01005144;AMYH01005145;AMYH01005146;BC120931;BC120932;NM_198441 AAI20932;AAI20933;NP_940843;P86496 Hs.525056 FLJ40296;MGC149404;MGC149405;PRR20 OTTHUMP00000218560;proline rich 20;proline-rich protein 20;proline-rich protein 20A APPROVED protein-coding ENSG00000204919 24754 13445 VALIDATED 1605791 PRR23B proline rich 23B 3 3 3 q23 137164128 137166023 - 140220563 140222458 - 138737873 138739768 - 12477932;23314748 389151 Q6ZRT6 ABBA01059068;AC130416;AK127998;AMYH01013536;BC137145;BC137146;NM_001013650 AAI37146;AAI37147;BAC87223;NP_001013672;Q6ZRT6 Hs.531376 OTTHUMP00000218627;proline-rich protein 23B protein-coding ENSG00000184814 33764 18392 VALIDATED 1602428 PRR22 proline rich 22 19 19 19 p13.3 5720964 5722769 - 5733971 5735610 - 5782971 5784776 - 15146197;12477932 163154 K7EJN8;Q8IZ63 ABBA01055991;AC011499;AMYH01009366;BC008985;BC023278;CH471139;CN370733;NM_001134316 AAH08985;AAH23278;ACT64413;EAW69147;NP_001127788;Q8IZ63 Hs.631838 1675624 RH98517 MGC24975 OTTHUMP00000221882;proline-rich protein 22 protein-coding ENSG00000212123 28354 14501 VALIDATED 3518440 PRR24 proline rich 24 19 19 19 q13.32 44582022 44582860 + 52470014 52470820 + 47777659 47778980 + 6480464 11181995;12477932 255783 C9JVW0 ABBA01041019;AC008532;AMYH01009882;AMYH01009883;BC022076;BC045749;BC064510;BE896741;BQ708656;CH471126;NM_178511;NR_037675 C9JVW0;EAW57469;NP_848606 Hs.128690 1730203 D19S241E OTTHUMP00000242981;proline-rich protein 24 protein-coding ENSG00000257704 27406 VALIDATED 1345236 PRR7 proline rich 7 (synaptic) 5 5 5 q35.3 171618357 171627632 - 176806400 176815889 + 176873796 176883287 + 737633;6480464 12477932 21460222;15629447;17207965;20383146;22703881 80758 D6RFJ4;Q8TB68 ABBA01033456;AC145098;AMYH01015874;BC004261;BC021240;BC024233;BC033649;BE277571;CH471195;CS123545;NM_001174101;NM_001174102;NM_030567 AAH04261;AAH21240;AAH24233;AAH33649;ACE86436;ACE87111;ADQ32679;CAJ18109;EAW84994;EAW84995;EAW84996;NP_001167572;NP_001167573;NP_085044;Q8TB68 Hs.534492 1850723 RH47231 MGC10772 OTTHUMP00000161454;OTTHUMP00000223842;OTTHUMP00000223843;OTTHUMP00000223844;proline-rich protein 7;synaptic proline-rich membrane protein protein-coding ENSG00000131188 28130 15186 VALIDATED 1347405 PRR26 proline rich 26 10 10 10 p15.3 651761 666346 + 685976 688114 + 695888 711109 + 16344560;15164054;14702039;12477932 414235 Q5VXK3;Q8N8Z3 AA877122;ABBA01035265;AK096000;AK096013;AK296168;AL358216;AMYH01001970;BC042561;CH471072;DA621677;NR_027151;NR_027152 BAC04668;BAC04673;BAG58906;EAW86533;EAW86534;Q8N8Z3 Hs.587103 1654438 G31010 C10orf108;FLJ38681 APPROVED miscrna ENSG00000180525 30724 18528 VALIDATED 1343981 PRR3 proline rich 3 6 6 6 p21.33 32122604 32130591 + 30632735 30640159 + 30524486 30532473 + 1580863;6480464 16344560;14574404;12477932;8889548;15146197;19851445;19912639;22939629;19322201 80742 A6NDA2;B3KQA4;P79522;Q96QB9 AB088095;AB103601;AB202092;ABBA01038049;AK074531;AK131382;AK298621;AK316586;AL662800;AL662825;AMYH01016205;BA000025;BC126455;BC126457;BG483577;BU729453;BX000357;BX248518;BX927220;CH471081;CN258740;CR388372;CR847863;CR936927;DA636006;DR762096;NM_001077497;NM_025263;U63336 AAB40147;AAI26456;AAI26458;BAB63326;BAC54926;BAE78610;BAF31261;BAG38174;BAG51966;BAG60800;EAX03297;EAX03298;NP_001070965;NP_079539;P79522 Hs.118354;Hs.651434 1648350;1682714;1775266;2220176;5020948;5022200;5022450;5022578;5037552 D10S275;D1S1423;D6S2830;D8S2279;G35510;L18426;RH78882;RH79921;SHGC-32967 CAT56;MGC161733;MGC161735 MHC class I region proline-rich protein CAT56;OTTHUMP00000029041;OTTHUMP00000029042;proline-rich polypeptide 3;proline-rich protein 3 protein-coding 21149 17915 VALIDATED 4143661 PRR9 proline rich 9 1 q21.3 153190060 153191793 + 6480464 574414 Q5T870 ABBA01049433;AI432195;AL161636;AMYH01001403;BX100130;CD387786;NM_001195571 NP_001182500;Q5T870 Hs.135098 1684802 RH80370 OTTHUMP00000015822;proline-rich protein 9 protein-coding ENSG00000203783 32057 VALIDATED 1346469 PRR4 proline rich 4 (lacrimal) This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011] 12 12 12 p13 16146762 16466622 - 10889715 11215480 - 10998448 11002075 - 1580863;6480464;7240710 7544782;16344560;15526346;15489334;15146197;12665801;12477932;20379614;21139048 11272 F5H178;Q16378 ABBA01067807;AC006518;AF530472;AK292934;AK292991;AK304321;AK311715;AMYH01004280;BC058035;BX537839;CH471094;CN411028;DB229285;DB486049;NM_001098538;NM_007244;S79048 AAB35174;AAH58035;AAM94338;BAF85623;BAF85680;BAG65171;EAW96213;NP_001092008;NP_009175;Q16378 Hs.732031 1644124;1644652;1652619;1653074;1656276;1670804;1682247;1688666;1699744;1704224;1725899;1725929;1726083;1733222;1733612;1736192;1771287;2106687;2115363;2117195;2122241;2123322;2123514;2126936;2127023;2129410;2170018;2183380;2218814;2218816;2218818 D12S1123;D12S1137E;D12S1409;D12S841;D12S936;G41794;G62224;G62236;G62373;RH103478;RH41834;RH44895;RH46058;RH68584;RH71400;RH78796;RH79615;RH92305;SGC33675;SHGC-35333;SHGC-35334;SHGC-35693;SHGC-83138;STS-M13057;TAS2R14__5197;TAS2R44__5206;TAS2R49__5209;TAS2R50__5211;WI-11709;WI-17064;WI-21551 DKFZp779L1763;FLJ18757;LPRP;PROL4 OTTHUMP00000238923;OTTHUMP00000238924;OTTHUMP00000238926;lacrimal proline rich protein;lacrimal proline-rich protein;nasopharyngeal carcinoma-associated proline rich 4;nasopharyngeal carcinoma-associated proline-rich protein 4;proline-rich polypeptide 4;proline-rich protein 4 APPROVED protein-coding ENSG00000111215 18020 09248 605359;613573 REVIEWED 6767501 PRR7-AS1 PRR7 antisense RNA 1 5 q35.3 176864890 176874945 - 12477932 340037 ABBA01033456;AC145098;AMYH01015874;BC041422;BM083785;NR_038915;NR_038916 Hs.570879;Hs.738026 5022322 D11S2560 APPROVED miscrna 27961 VALIDATED 1605150 PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2010] 22 22 22 q13 29010302 29170596 + 43489133 43637328 + 45098382 45258664 + 6480464 12477932;10591208;19913121;20628086;20379614;20967262;15718101;22554406;22318606;22863734;21890473;21906983 553158 B1AHC3;B1AHC4;F8W6F3;H0Y9T8 ABBA01017851;ABBA01017852;ABBA01017853;ABBA01017854;ABBA01017855;ABBA01017856;ABBA01017857;ABBA01017858;AF195968;AF195969;AL355192;AMYH01012840;AMYH01012841;AMYH01012842;BC132755;BC132757;BC144382;BI488517;NM_181334;Z83838;Z93244;Z98743 AAI32756;AAI32758;AAI44383;AAK58136;AAK58137;ADR83179;CAB90248;NP_851851 Hs.102336 1339982;1687027;1689466;1709650;1711490;1711492;1721069;1747489;1754307;1777909;2115169;2126713;2136341;2136929;2145942;5094088 AL008674;AL021650;AL021655;AL021663;AL021670;D22S1168;G34965;G49246;G49247;G59517;G65368;RH67572;RH68401;SHGC-132331;SHGC-85190;WI-17470 ARHGAP8 OTTHUMP00000082599;OTTHUMP00000082600;OTTHUMP00000219406;OTTHUMP00000219407;OTTHUMP00000219408;PRR5-ARHGAP8 fusion;PRR5-ARHGAP8 fusion protein;Rho GTPase activating protein 8 APPROVED protein-coding ENSG00000241484;ENSG00000248405 34512 18688 REVIEWED 1605618 PRR5L proline rich 5 like 11 11 11 p13-p12 36466181 36637921 + 36354131 36443330 + 36317725 36486754 + 6480464 17461779;16344560;14702039;12477932;20877624;21964062 79899 B3KNU3;E9PIU0;E9PJV4;E9PKK6;E9PL62;E9PLJ6;E9PP25;E9PP62;E9PS02;H7BXN5;Q6MZQ0 ABBA01060847;ABBA01060848;ABBA01060849;ABBA01060850;AC009656;AC087277;AK024275;AK026283;AK055042;AMYH01003493;AMYH01003494;AMYH01003495;BC008922;BC125122;BX640959;CH471064;DA269290;DA344861;DA449593;DA458327;DR001466;NM_001160167;NM_001160168;NM_001160169;NM_024841 AAH08922;AAI25123;BAB14870;BAG51455;CAE45978;EAW68123;EAW68124;NP_001153639;NP_001153640;NP_001153641;NP_079117;Q6MZQ0 Hs.19987 1663240;1667683;1678907;1679986;1857022;2138523;2155949 D11S3985;D11S4038;D11S4638;G19249;RH40044;RH48898;SGC34020 FLJ14213;FLJ22630;MGC16218;PROTOR2 OTTHUMP00000232636;OTTHUMP00000232640;OTTHUMP00000232771;Protein observed with Rictor-2;proline-rich protein 5-like;protor-2 protein-coding ENSG00000135362 25878 07854 611728 VALIDATED 2793691 PRRC2CP1 proline-rich coiled-coil 2C pseudogene 1 Y Y Y p11.2 89625108 89625880 + 3477753 3478725 + 3417854 3418626 + 12815422;9847074 360018 ABBA01069791;AC019058;NG_002936 2111956 DXYS241 BAT2D1P1;BAT2L2P1 APPROVED pseudo ENSG00000216777 23949 INFERRED 1603285 PRR8 proline rich 8 7 q36.3 155158335 155231175 + 12853948;12690205;12477932 92454 Q75LN9;Q75ML5;Q96EV2;Q9NSV0 AC009403;AC078834;AC092460;AL137724;BC011923;CH236954;CH471149;NM_053043 AAH11923;AAS01989;AAS02026;AAS07551;CAB70894;EAL23911;EAX04539;NP_444271;Q75LN9;Q75ML5;Q96EV2;Q9NSV0 Hs.585001 MGC20460 protein-coding 28293 11317 1604351 PRR5 proline rich 5 (renal) This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010] 22 22 22 q13 28976509 29045467 + 43443257 43512225 + 45064427 45133561 + 6484113;6480464 17599906;17461779;15718101;15498874;14702039;12529303;12477932;10591208;22554406;20379614;8889548;22990118;21906983;18505677 55615 A8K699;B1AHF5;B1AHG3;B1AHG4;E9PH80;F8WEZ7;G3V0G2;H0Y6F2;Q9NXL1 ABBA01017855;ABBA01017856;ABBA01017857;ABBA01017858;AF177331;AK000192;AK055848;AK056787;AK091884;AK291564;AMYH01012839;AMYH01012840;AY859540;BC016921;BI825567;BK005635;BK005636;BK005637;BK005638;BK005639;BM682583;CH471138;NG_029235;NM_001017528;NM_001017529;NM_001017530;NM_001198721;NM_015366;NM_181333;Z93244;Z98743 AAG17975;AAH16921;BAA90999;BAF84253;BAG51585;BAG52436;DAA05654;DAA05655;DAA05656;DAA05657;DAA05658;EAW73353;EAW73354;EAW73357;NP_001017528;NP_001017529;NP_001017530;NP_001185650;NP_056181;NP_851850;P85299 Hs.102336 1721069;2126713;2136341;2136368;5015881;5022200;5022450;5022578;5022588;5022651;5037552;5111947 AL021663;AL022545;D10S275;D11S2921;D1S1423;D5S1597E;D8S2279;G59517;GDB:335751;L18426;RH121893;WI-17470 FLJ20185;FLJ20185k;PP610;PROTOR-1;PROTOR1 OTTHUMP00000197416;OTTHUMP00000197417;OTTHUMP00000197418;OTTHUMP00000197419;OTTHUMP00000197422;OTTHUMP00000197424;OTTHUMP00000199336;OTTHUMP00000199337;Rho GTPase activating protein 8;proline rich protein 5;proline-rich protein 5;protein observed with Rictor-1;protor-1 APPROVED protein-coding ENSG00000186654 31682 18696 609406 REVIEWED 1346299 PRRC2B proline-rich coiled-coil 2B 9 9 9 q34.13 104845673 104915750 + 133295298 133365399 + 134305477 134375578 + 737633;6480464 12477932 17203973;17081983;16189514;15489334;15164053;15146197;14702039;9628581;21832049;16713569;19615732;16751776;20508642;20360068;21903422;21139048;22586326 84726 H0Y412;H3BLU0;Q5JSZ5;Q5JSZ9;Q5JT00;Q9BU62 AB011087;ABBA01012096;ABBA01012097;AK025675;AK026025;AK026162;AK055916;AK303507;AK304849;AK309879;AL050142;AL137365;AL354855;AL358781;AMYH01021779;AY700780;BC002872;BC002969;BC012289;BC012451;BX647528;BX647842;CN369737;CR749818;CR933661;DQ593053;NM_013318 AAH02872;AAH02969;AAH12289;AAU10087;BAA25441;BAB15380;BAG64539;BAG65589;CAH18678;CAI45959;NP_037450;Q5JSZ5 Hs.743955 1664823;1680749;1730181;1735936;1740187;2172538;2180408 D9S1066E;D9S1672E;D9S1773;D9S181E;RH15979;RH47343;RH79994 BAT2L;BAT2L1;DKFZp781F05101;DKFZp781K12107;KIAA0515;LQFBS-1;MGC10526;RP11-334J6.1 HLA-B associated transcript 2-like 1;HLA-B-associated transcript 2-like 1;OTTHUMP00000022414;proline-rich coiled-coil protein 2B;protein BAT2-like 1;protein PRRC2B APPROVED protein-coding ENSG00000130723 28121 VALIDATED 1601934 PRRC1 proline-rich coiled-coil 1 5 5 5 q23.2 122984117 123021592 + 126881247 126918672 + 126853309 126890781 + 6480464 16344560;15541471;14702039;12477932;16055720;21832049;19322201;20360068;21139048;22863883 133619 Q96M27 ABBA01068878;AC010424;AJ427339;AJ441110;AJ496322;AJ515158;AJ515428;AJ515429;AK057437;AK090486;AL831963;AL832056;AL832600;AMYH01015604;AW007860;BC017066;CH471062;DA605419;NM_130809 AAH17066;ACE86667;ACE87351;ADZ15400;BAB71487;BAC03467;CAD22113;CAD29585;CAD38605;CAD42881;CAD56438;CAD56439;CAD56470;CAH10384;EAW62402;EAW62403;EAW62404;EAW62405;NP_570721;Q96M27 Hs.483259 1680152;1697014;1760263;1770562;1780936;1780938;2125449;2131288;2154148;2178481;2184089;7186103 D5S2674;RH101983;RH45474;RH65375;RH91133;SHGC-132570;SHGC-36133;STS-H97470;UniSTS:10058;bac5347T;bac5351S FLJ32875 OTTHUMP00000159233;OTTHUMP00000223090;OTTHUMP00000223091;OTTHUMP00000223468;proline-rich and coiled-coil-containing protein 1;protein PRRC1 protein-coding ENSG00000164244 28164 14052 VALIDATED 1313475 PRRG2 proline rich Gla (G-carboxyglutamic acid) 2 19 19 19 q13.33 46953927 46963605 + 54778280 54786008 + 50084587 50094265 + 1580863;6480464 15203218;9256434;17502622;12477932;11171957;11042109;8889548 5639 M0QXL9;M0QZA1;O14669 ABBA01032917;ABBA01032918;AC010619;AF009243;AMYH01009914;BC026032;CB851486;CD609900;CH471177;CR456846;NM_000951 AAB67071;AAH26032;CAG33127;EAW52504;NP_000942;O14669 Hs.35101 1793820;1846657;2109699 PMC29263P1;PRRG2_8571;RH48503 PRGP2 proline-rich Gla (G-carboxglutamic acid) polypeptide 2;proline-rich Gla (G-carboxyglutamic acid) polypeptide 2;proline-rich Gla protein 2;proline-rich gamma-carboxyglutamic acid protein 2;transmembrane gamma-carboxyglutamic acid protein 2 protein-coding ENSG00000126460 9470 09189 604429 VALIDATED 1343058 PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011] X X X q28 151115147 151118431 + 150617435 150620669 + 150863730 150870063 + 1580863;6480464 11171957;16303743;14702039;12477932;15203218 79057 A6NDZ7;C9J7E6;H7C0C2;Q9BZD7 ABBA01037250;ABBA01037251;AF274854;AF326350;AK074574;AMYH01023225;BC128256;BC128409;CD631899;CH471169;CQ782534;NG_016589;NM_024082;NR_033262 AAI28257;AAI28410;AAK00955;BAC11069;CAF85816;EAW99407;NP_076987;Q9BZD7 Hs.592236 1793822;2107677 PMC29263P2;TMG3__5097 MGC149510;MGC156177;PRGP3;TMG3 OTTHUMP00000025873;proline-rich Gla protein 3;proline-rich gamma-carboxyglutamic acid protein 3;transmembrane gamma-carboxyglutamic acid protein 3 APPROVED protein-coding ENSG00000130032 30798 06742 300685 VALIDATED 1346309 PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 11 11 11 p13 32998259 33022871 + 32808065 32832700 + 32851481 32879669 + 737633;1580863;6480464 12477932 18029348;11171957;15489334;19772629 79056 Q9BZD6 ABBA01060903;ABBA01060904;AF326351;AL035400;AMYH01003479;AMYH01003480;BC010052;BC063393;CH471064;NM_024081 AAH10052;AAH63393;AAK00956;ABM83810;ABM87132;EAW68215;NP_076986;Q9BZD6 Hs.471695 1674296;1704950;1744069;5015879;5015961;5016478;5020740;5022651 D11S2921;D15S1477;GDB:314949;GDB:385469;GDB:434012;L17809;SHGC-79959;WI-17370 PRGP4;TMG4 OTTHUMP00000232198;proline-rich Gla protein 4;proline-rich gamma-carboxyglutamic acid protein 4;transmembrane gamma-carboxyglutamic acid protein 4 protein-coding ENSG00000135378 30799 15187 611690 VALIDATED 6481377 PRRT3-AS1 PRRT3 antisense RNA 1 3 9989088 9996471 + 100874032 ABBA01020396;AC018809;AI861893;AMYH01012966;BQ000843;NR_046734 Hs.616388 APPROVED miscrna ENSG00000230082 41151 PREDICTED 1351775 PRRC2C proline-rich coiled-coil 2C 1 1 1 q23.3 144564070 144672045 + 169721290 169829273 + 171454666 171562650 + 6480464 15747776;12477932;12443540;14702039;10470851;22623428;23535033;17577209;20379614;16712791;22108332;21139048;21890473;19322201;21628590;22586326 23215 E7EPN9;H7C5N8;Q9UF29 AB029019;ABBA01027926;ABBA01027927;ABBA01027928;ABBA01027929;AF253978;AF488829;AK000190;AK022492;AK095231;AK124374;AK297263;AK298887;AK304841;AL021579;AL049762;AL096857;AL133635;AL162004;AMYH01001496;BC001260;BC006090;BC026108;BC045713;BC058930;BC066968;CB158511;CH471067;HI573960;NM_015172;Z98750 AAG44627;AAH06090;AAH45713;AAH58930;AAO49478;BAA83048;BAA90997;BAB14056;BAG59739;BAG61000;BAG65584;CAB51071;CAB63759;CAB82345;CBX47469;EAW90898;EAW90899;EAW90900;EAW90901;EAW90902;NP_055987;Q9Y520 Hs.494614 1651537;1670480;1691806;1692842;1693452;1693700;1699110;1719365;1739341;2173029;2178396;2181620;5018993;5020948;5037552;5095993;5102961;5109281 D1S1425;D6S1397E;D8S2279;G35510;G42259;G42279;G42288;RH103131;RH123410;RH143551;RH46048;RH48828;RH64520;SHGC-35127;SHGC-58618;SHGC-58908;SHGC-75919;WI-18049 BAT2-iso;BAT2D1;BAT2L2;XTP2 BAT2 domain containing 1;BAT2 domain-containing protein 1;HBV X-transactivated gene 2 protein;HBV XAg-transactivated protein 2;HBxAg transactivated protein 2;HLA-B associated transcript 2-like 2;HLA-B-associated transcript 2-like 2;OTTHUMP00000213041;OTTHUMP00000213044;proline-rich and coiled-coil-containing protein 2C;protein BAT2-like 2;protein PRRC2C APPROVED protein-coding ENSG00000117523 24903 16539 VALIDATED 1350670 PRRC2A proline-rich coiled-coil 2A A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] 6 6 p21.3 31696429 31713533 + 31588450 31605554 + 1580863;2306964;2306963;6480464 10987645;15842729 14667819;16713569;19143821;19116923;19115949;19039607;19023099;18835879;17975119;17827388;17081983;16964243;16116311;16083285;15752841;15489334;15302935;15077289;14656967;14574404;12477932;11556964;10949724;8889548;8499947;2813433;2156268;21145461;20616199;20587610;20626023;16751776;19615732;19851445;20098615;20205591;23047821;23894747;19531213;22586326;21903422;22267201;21139048;21906983;23221128;20195357;21988832;23307926 7916 Q96QC6 AA909001;AA969275;AB210034;ABBA01038083;AF075059;AF129756;AI383939;AI989927;AK297210;AK298584;AK302756;AK309774;AL662801;AL662847;AL805934;AMYH01016217;BA000025;BC030127;BC032134;BC042295;BC060668;BG423867;BM555411;BU684558;BX248305;BX474290;BX511262;CH471081;CR354443;CR749245;CR753892;CR759761;DC345271;M31293;M33509;M33512;M33518;NM_004638;NM_080686;Z15025 AAA35585;AAA35586;AAD18086;AAH30127;AAH32134;AAH42295;AAH60668;BAB63391;BAE06116;BAG59694;BAG60774;BAG63968;CAA78744;CAH18101;EAX03448;EAX03449;EAX03450;EAX03451;EAX03452;NP_004629;NP_542417;P48634 Hs.123239;Hs.436093 1679834;1793912;1847235;2176739;2191571;2191687;5104898 MARC_26623-26624:1034086275:1;MARC_5045-5046:996690083:1;N3_3_4;PMC30645P1;RH67814;SHGC-30262;SHGC-34407 BAT2;D6S51;D6S51E;DKFZp686D09175;G2 HLA-B associated transcript 2;HLA-B-associated transcript 2;OTTHUMP00000029233;OTTHUMP00000166020;large proline-rich protein BAT2;proline-rich and coiled-coil-containing protein 2A;protein G2;protein PRRC2A APPROVED protein-coding ENSG00000204469 13918 00807 142580 REVIEWED 1350141 PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] X X X p21.1 41346185 41454238 + 37130773 37201463 + 37208528 37316548 + 1580863;6480464 9256434;16344560;15772651;15489334;12477932;17207965;16712791;19322201;19953087;21890473 5638 C9J6P5;C9JNY5;O14668;Q8NEK6 ABBA01047126;ABBA01047127;ABBA01047128;ABBA01047129;ABBA01047130;ABBA01047131;ABBA01047132;ABBA01047133;ABBA01047134;ABBA01047135;ABBA01047136;ABBA01047137;ABBA01047138;ABBA01047139;ABBA01047140;AC245096;AF009242;AK312904;AL356858;AMYH01022210;BC012608;BC030786;BC041591;BC060833;BX097465;CB134819;CH471141;DA245329;DA411839;DA417581;DB286340;NG_016770;NM_000950;NM_001142395;NM_001173486;NM_001173489;NM_001173490 AAB67070;AAH30786;AAH60833;ADQ33034;BAG35750;CAI40412;EAW59457;EAW59458;NP_000941;NP_001135867;NP_001166957;NP_001166960;NP_001166961;O14668 Hs.190341 1733694;2151632 DXS6680;RH36419 PRGP1 OTTHUMP00000023139;OTTHUMP00000215928;OTTHUMP00000215929;OTTHUMP00000215930;OTTHUMP00000215931;proline-rich Gla (G-carboxyglutamic acid) polypeptide 1;transmembrane gamma-carboxyglutamic acid protein 1 APPROVED protein-coding ENSG00000130962 9469 05113 604428 REVIEWED 1349554 PRSM2 protease, metallo, 2 5643 9474 1343772 PRS Prieto X-linked mental retardation syndrome 7240710 1673297;1605216 5640 9471 1345386 PRRT1 proline-rich transmembrane protein 1 6 6 6 p21.32 33683181 33686760 - 32224118 32227698 - 32116140 32119720 - 6480464 19143821;19116923;15489334;14702039;14656967;12477932;19851445;23326239;23382691 80863 A2ABC7;Q96NQ8 ABBA01038106;AF085841;AK054885;AK123424;AL662828;AL662884;AL845464;AMYH01016233;BC013201;BC063046;BX284686;BX927239;CH471081;CR753803;CR812478;CR933878;NM_030651;U89336 AAB47496;AAH13201;AAH63046;BAB70821;EAX03588;EAX03589;EAX03590;NP_085154;Q99946 Hs.549204;Hs.699821 1697398;1699000 RH102199;RH103071 C6orf31;DSPD1;IFITMD7;NG5 OTTHUMP00000029194;OTTHUMP00000029195;chromosome 6 open reading frame 31;dispanin subfamily D member 1;interferon induced transmembrane protein domain containing 7;proline-rich transmembrane protein 1 protein-coding ENSG00000204314 13943 10794 VALIDATED 1602444 PRRT2 proline-rich transmembrane protein 2 This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 16 16 16 p11.2 72969059 72972852 - 29730910 29734703 + 29823409 29827202 + 6480464;7240710 16303743;14702039;12477932;16169070;22209761;22399141;17207965;8125298;23077016;23077017;23077018;23077019;23077024;23077026;22623405;22985072;23126439;23190448;22832103;22131361;22101681;22360420;20301633;23360469;16344560;22120146;22243967;22744660;23176561;23363396;22902423;22386217;22464846;23566103;22782515;22877996;22875091;22870186;22845787;22752065;23535490 112476 H3BN10;I3L0R5;Q7Z6L0 ABBA01013117;AC009133;AK074572;AK092265;AK098379;AK225785;AK292393;AL834185;AMYH01007495;BC011405;BC053594;BG702892;CH471238;CQ782530;DA346262;DC332235;H46459;NG_032039;NM_001256442;NM_001256443;NM_145239 AAH11405;AAH53594;ADQ32535;BAC03843;BAC11067;BAF85082;CAD38881;CAF85814;EAW79990;EAW79991;EAW79992;EAW79993;NP_001243371;NP_001243372;NP_660282;Q7Z6L0 Hs.655071 1335088;1336330;1342123;1649937;1679796;2126739;7187772 D16S2588E;D16S3080;D16S3093;D16S416;D16S429E;RH17219 BFIC2;BFIS2;DKFZp547J199;DSPB3;DYT10;EKD1;FLJ25513;ICCA;IFITMD1;PKC OTTHUMP00000162999;dispanin subfamily B member 3;interferon induced transmembrane protein domain containing 1;proline-rich transmembrane protein 2 APPROVED protein-coding ENSG00000167371 30500 13995 128200;602066;605751;614386 REVIEWED 3051273 PRRT4 proline-rich transmembrane protein 4 7 7 7 q32.1 122793499 122804851 - 127778146 127788971 - 127990379 128001739 - 6480464 19913121;20628086;11181995;12477932;12690205;8889548;21906983 401399 C9JH25;C9JQT1;C9JVX5;C9JWH6;H7C4Q3 ABBA01057676;AC010655;AMYH01017916;BC063892;BU688038;BX327107;BX355277;CH236947;CH471070;NM_001114726;NM_001174164 C9JH25;EAL24313;EAW83645;EAW83646;EAW83647;EAW83648;NP_001108198;NP_001167635 Hs.381096 2129111 RH44851 OTTHUMP00000212391;OTTHUMP00000212392;OTTHUMP00000212393;proline-rich transmembrane protein 4 protein-coding ENSG00000224940 37280 VALIDATED 1606834 PRRX1 paired related homeobox 1 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008] 1 1 q24 168899937 168975165 + 170633313 170708541 + 6480464;7240710 1509260;18978678;18296734;16710414;16582099;15489334;12539042;12477932;11463719;11063257;11036080;10737800;10397741;9334314;8125298;7760827;21323949;20634891;18604245;22544366;22566498;20301702;22198066;18029348;23201163 5396 G3V2N3;G3V3G1;G3V4R6;G3V5J2;P54821 AA452918;AA758879;AB451463;ABBA01027942;AK225968;AMYH01001490;AV750422;BC074993;BI039001;CH471067;NG_031856;NM_006902;NM_022716;Z97200 AAH74993;ABZ92177;BAG70277;EAW90882;EAW90883;NP_008833;NP_073207;P54821 Hs.283416 1653518;1659323;1798026;1850869;1855068;1856387 G15917;G31141;PRRX1_2266;SHGC-57664;SHGC-75887;SHGC-75888 AGOTC;PHOX1;PMX1;PRX-1;PRX1 OTTHUMP00000033166;OTTHUMP00000033167;OTTHUMP00000245225;PRX-1;homeobox protein PHOX1;paired mesoderm homeo box 1;paired mesoderm homeobox 1 isoform pmx-1b;paired mesoderm homeobox protein 1;paired-related homeobox protein 1 APPROVED protein-coding ENSG00000116132 9142 01337 167420;202650 REVIEWED 1605239 PRRT3 proline-rich transmembrane protein 3 3 3 3 p25.3 9922670 9929520 - 9962226 9969078 - 9987226 9994078 - 6480464 16344560;15489334;15340161;14702039;12975309;12477932 285368 Q5FWE3 ABBA01020396;AC018809;AK090993;AMYH01012966;AY358158;BC040508;BC089447;BC111555;CH471055;DA198780;NM_207351 AAH40508;AAH89447;AAI11556;AAQ88525;BAC03564;EAW64044;EAW64045;NP_997234;Q5FWE3 Hs.741473 5022578;5037552;5493179 D1S1423;D8S2279;UniSTS:484624 FLJ33674;MGC105134;MGC33990 OTTHUMP00000207672;OTTHUMP00000207674;proline-rich transmembrane protein 3 protein-coding ENSG00000163704 26591 16935 VALIDATED 1315387 PRSS16 protease, serine, 16 (thymus) This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21 28821515 28830412 + 27323487 27332229 + 27215502 27224399 + 1580863;6480464 10527559;19571809;19295542;17584581;15592422;14702039;14574404;12140752;8812418;19571808;22384243;22488895 10279 B4DZV2;C9JDN6;F2Z2N5;F8WBG5;F8WF25;H0Y893;H0Y8B9;Q9NQE7 AA580758;ABBA01037991;AF052514;AK093590;AK097918;AK098033;AK126160;AK226091;AK303106;AK314037;AL021808;AMYH01016188;AY305022;AY305023;AY305024;AY305025;BG119060;CH471081;NM_005865 AAC33563;AAI56192;AAI56929;AAP74971;AAP74972;AAP74973;AAP74974;BAG53551;BAG64214;EAX03088;EAX03089;NP_005856;Q9NQE7 Hs.274407 1659688;1700590;1767531 D6S2339;RH103917;RH36539 FLJ36271;FLJ40714;FLJ44172;TSSP OTTHUMP00000017777;serine protease 16;thymus specific serine peptidase;thymus-specific serine protease APPROVED protein-coding ENSG00000112812 9480 06205 607169 REVIEWED 735824 PRSS1 protease, serine, 1 (trypsin 1) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] 7 7 q34 142136904 142140495 + 142457319 142460927 + 1599960;1599965;1599966;1599961;1599967;1580863;2324899;6480464;7240710 8841182;9688663;3833185;11062314;8625754;18428024 15786540;12120220;1763044;17474147;14718574;19593166;19550412;19454815;19433603;19096130;19077465;18986377;18953248;18946221;18852684;18755888;18702646;18580441;18522894;18511571;18461367;18272034;18184119;18076731;18063422;17981921;17641559;17613931;17489851;17480209;17087724;17069643;17003641;16954950;16764792;16685108;16534247;16327984;15952740;21415673;15776435;15749231;15725718;15678497;15651064;15342556;15329520;15082592;15017610;14695529;14526128;12939655;12832630;12792776;12765848;12690205;12543931;12529713;12477932;12395893;12360463;12189145;12120234;12021776;11938439;11932257;11866271;11788572;11734061;11719509;11708864;11702203;11549837;11278730;11260229;11073713;11073545;11057674;10930381;10909845;10835640;10512713;10419450;10381903;10204851;9732462;9633818;9402754;9322498;9169621;8910369;8683601;8650574;8340386;6589790;3011602;2598466;2437112;1370825;22539344;20676769;19654461;19657220;19690177;19801634;19951905;20001681;20198321;20502448;20484960;20452997;20950468;22939629;23143602;21499207;22088471;23455922;23601753;18781797;21952138;21922221;21139048;22427236;22094894;21792085;22109105;22379635;22699143;15174051;22722260 5644 E7EQ64;H0Y8D1;Q9HAN4 AA835201;ABBA01034128;AC231380;AF314534;AF315309;AF315310;AF315311;AK293375;AK312199;AMYH01018007;AY234116;AY234117;AY234118;AY234119;AY234120;AY234121;AY234122;AY234123;AY254094;AY254095;AY307359;AY307360;BC035777;BC128226;BP321959;BP321999;CA948204;CH236959;CH471198;CR627200;CS423469;DQ128082;DQ778083;L36092;M22612;NG_001333;NG_008307;NM_002769;U66061;U70137 AAA61231;AAC50728;AAC80207;AAG30943;AAG30947;AAG30948;AAG30949;AAI28227;AAO85796;AAO85797;AAO85798;AAO85799;AAO85800;AAO85801;AAO85802;AAP42827;AAP42828;AAP59550;AAP74363;AAP74364;AAZ40216;ABI63347;BAG35132;BAG56887;CAL49864;EAL23773;EAW51925;NP_002760;P07477 Hs.449281 1739209;2171990;5014816 D7S2277;D7S2928;PRSS1 DKFZp779A0837;FLJ57296;MGC120175;MGC149362;TRP1;TRY1;TRY4;TRYP1 OTTHUMP00000213668;OTTHUMP00000213669;OTTHUMP00000213670;beta-trypsin;cationic trypsinogen;digestive zymogen;nonfunctional trypsin 1;pancreatic trypsin 1;serine protease 1;trypsin I;trypsin-1;trypsinogen 1;trypsinogen A APPROVED protein-coding ENSG00000204983 9475 02039 167800;276000;614044 REVIEWED 1322947 PRRX2 paired related homeobox 2 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 103078740 103135771 + 131467741 131524774 + 132427920 132484953 + 1580863;6480464 11063257;9665387;17964282;16582099;15496970;15489334;12713735;12477932;11893718;20634891;20585627;21385867 51450 H0YIZ3;Q99811 ABBA01043941;ABBA01043942;ABBA01043943;ABBA01043944;AF061970;AL590369;AMYH01021762;AMYH01021763;AMYH01021764;BC014645;CH471090;NM_016307;U81600 AAB39864;AAF17708;AAH14645;EAW87901;NP_057391;Q99811 Hs.660115 1652480;1697206;1729819;1763027;1787168;7185922 D9S62;RH102095;SHGC-146771;SHGC-156288;STS-U81600 MGC19843;PMX2;PRX2 OTTHUMP00000022344;OTTHUMP00000245229;PRX-2;paired mesoderm homeobox protein 2;paired-like homeodomain protein PRX2;paired-related homeobox protein 2 APPROVED protein-coding ENSG00000167157 21338 05244 604675 REVIEWED 1343422 PRSS29P protease, serine, 29, pseudogene 16 16 16 p13.3 1525335 1528339 - 1251005 1254006 - 1311004 1314005 - 6480464 17947681;15616553 123787 A6NIE9 ABBA01030319;AC120498;AF529082;AMYH01007031;NG_002329 A6NIE9 ISP2 APPROVED pseudo ENSG00000196364 17542 INFERRED 733403 PRSS12 protease, serine, 12 (neurotrypsin, motopsin) This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010] 4 4 4 q28.1 116492317 116565055 - 119421865 119493370 - 119201193 119273922 - 704346;737771;1580863;6480464;7240710 9245503;12459588 12477932;10343120;10103056;9540828;20332099 8492 P56730;Q96I80 A83630;ABBA01063873;ABBA01063874;ABBA01063875;AC096762;AF077298;AJ001531;AMYH01014483;BC007761;BG386264;CH471057;NG_023350;NM_003619 AAD25919;AAH07761;CAA04816;CAB69270;EAX06317;EAX06318;NP_003610;P56730 Hs.445857 1763593;2131695;2144618 D4S597;SHGC-147288;SHGC-59624 BSSP-3;BSSP3;MGC12722;MRT1 OTTHUMP00000163901;brain-specific serine protease 3;leydin;motopsin;neurotrypsin;serine protease 12 APPROVED protein-coding ENSG00000164099 9477 05989 249500;606709 REVIEWED 1347326 PRSS2 protease, serine, 2 (trypsin 2) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] 7 q34 142178778 142182363 + 1580863;2324904;2324899;2324908;6480464;7240710 18338334;18428024;8621252 12709065;16192646;12731883;19096130;19077465;19052022;18986305;18461367;18362849;18063422;18062964;17640760;16699518;15952740;15776435;15651064;14695529;12949286;12690205;12477932;11420435;11391623;11355948;11106574;11073713;9822200;9732462;9578462;9261109;8650574;8573092;8478942;3011602;2610933;2598466;1079768;12775419;1763044;20625975;19690177;19752771;20517765;20428826;20484960;23143602;21792081;21946810;22379635;20304780;22909050;22357509;22481290 5645 P07478;Q5NV56 ABBA01001683;AC239618;AF009664;AY052784;BC005814;BC030260;BC103997;BC103998;BC107784;CH236959;CH471198;DQ846872;DQ846873;L36092;M27602;NG_001333;NG_008322;NM_002770;U66061;XM_003960942;XM_003960943;XM_003960944 AAA61232;AAC13351;AAC80209;AAH05814;AAI03998;AAI03999;AAI07785;AAL14244;ABI63359;ABI63360;ABM81970;ABM85149;EAL23774;EAW51922;EAW51923;EAW51924;NP_002761;P07478;XP_003960991;XP_003960992;XP_003960993 Hs.449281;Hs.726742;Hs.728780 1660942;5014816 D7S2928;STS-X15505 MGC111183;MGC120174;MGC120175;TRY2;TRY8;TRYP2 anionic trypsinogen;protease serine 2 preproprotein;protease, serine, 2, preproprotein;serine protease 2;trypsin 2;trypsin II;trypsin-2;trypsinogen 2 APPROVED protein-coding 9483 03335 167800;601564 REVIEWED 1322033 PRSS22 protease, serine, 22 This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3102706 3108151 - 2842729 2848172 - 2902728 2908171 - 1580863;6480464 11602603;16176265;15701722;15616553;15489334;12975309;12477932;17207965 64063 I3L116;I3L147;Q9GZN4 AB010779;ABBA01026714;AC003965;AF321182;AK309624;AMYH01007085;AW083723;AY358396;BC009726;BQ893064;CH471112;NM_022119 AAB93671;AAG35070;AAH09726;AAQ88762;ADQ32326;BAB20263;EAW85456;NP_071402;Q9GZN4 Hs.459709 BSSP-4;MGC9599;SP001LA;hBSSP-4 OTTHUMP00000159207;brain-specific serine protease 4;prosemin;protease, serine S1 family member 22;serine protease 22;serine protease 26;tryptase epsilon APPROVED protein-coding ENSG00000005001 14368 08336 609343 REVIEWED 1344108 PRSS21 protease, serine, 21 (testisin) This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 16 16 p13.3 2807165 2811721 + 2867164 2871723 + 1580863;6480464 10397266;9826525;16810501;15685234;15489334;12975309;12477932;11004480;10600542;19571264;20211623;18029348;21987572 10942 I3L0U2;I3L2G7;I3L3C7;I3L3F7;Q9Y6M0 AA860356;AB031329;AB031330;AB031331;ABBA01026714;AC005361;AC092117;AF058300;AF058301;AMYH01007085;AY359034;BC074999;BC075000;BG717268;BI334059;BI827608;BX454526;CB529999;CH471112;NM_001270452;NM_006799;NM_144956;NM_144957;NR_073012 AAD41588;AAF79019;AAF79020;AAH74999;AAH75000;AAQ89393;BAA83520;BAA83521;BAA89532;EAW85463;EAW85464;EAW85465;EAW85466;EAW85467;NP_001257381;NP_006790;NP_659205;NP_659206;Q9Y6M0 Hs.72026 1668788;2108403 PRSS21_7984;RH66608 ESP-1;ESP1;TEST1;TESTISIN OTTHUMP00000159183;eosinophil serine protease 1;serine protease 21;serine protease from eosinophils;testisin APPROVED protein-coding ENSG00000007038 9485 07082 608159 REVIEWED 1323608 PRSS33 protease, serine, 33 16 16 16 p13.3 3033522 3036276 - 2773955 2776709 - 2833954 2836708 - 6480464 12795636;12477932;21832049 260429 I3L1S0;I3L3D7;Q8NF86 ABBA01026714;AC092117;AF536382;AMYH01007085;BC036846;BC062334;CH471112;CS359990;NM_152891 AAH36846;AAH62334;AAN04055;CAL31934;EAW85469;EAW85470;NP_690851;Q8NF86 Hs.280658 EOS serine protease 33;serine protease EOS protein-coding ENSG00000103355 30405 07109 613797 VALIDATED 734183 PRSS3 protease, serine, 3 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010] 9 9 p11.2 33785559 33789228 + 33750464 33799229 + 1580863;6480464 6698368;14507909;15313892;8294000;19249338;18665091;18363639;17623652;17406981;16759229;16492676;16412431;16013053;15987713;15855826;12860985;12477932;11827488;11057674;9099703;7498454;2326201;20947888;17207965;18711365;19920152;19924134;20484962;20035377;22042864;21907836;21139048;21906983;15174051;23455922 5646 A8CED3;B1AN99;F8W7P3;P35030;Q6ISJ4;Q7Z5F4 AB298285;AB298286;ABBA01065042;AF029308;AL139113;AL356489;AL358573;AMYH01019327;AY052783;BC030238;BC069476;BC069494;CH471071;D45417;NG_001337;NG_029635;NM_001197097;NM_001197098;NM_002771;NM_007343;X15505;X71345;X72781 AAC13322;AAH30238;AAH69476;AAH69494;AAL14243;ADQ32676;BAA08257;BAF80324;BAF80325;CAA33527;CAA50484;CAB58178;EAW58481;EAW58482;EAW58483;EAW58484;NP_001184026;NP_001184027;NP_002762;NP_031369;P35030 Hs.654513 1660942;1693766;1747843 G65748;SHGC-58840;STS-X15505 MTG;PRSS4;T9;TRY3;TRY4 OTTHUMP00000021237;OTTHUMP00000021238;OTTHUMP00000021239;brain trypsinogen;mesotrypsin;mesotrypsinogen;pancreatic trypsin 2;pancreatic trypsinogen III;protease, serine, 3 (mesotrypsin);protease, serine, 4 (trypsin 4, brain);serine protease 3;serine protease 4;trypsin 3;trypsin III;trypsin IV;trypsin-3;trypsinogen 4;trypsinogen 5;trypsinogen IV APPROVED protein-coding ENSG00000010438 9486 06685 613578 REVIEWED 2303662 PRSS30P protease, serine, 30, pseudogene 16 16 16 p13.3 3089537 3092715 - 2829570 2831733 - 2889574 2892752 - 6480464 12477932;10786627;14702039;20210993 124221 ABBA01026714;AC003965;AC005361;AK122946;AMYH01007085;BC041609;BC042597;CH471112;NR_026864 EAW85457;EAW85458;EAW85459;EAW85460;EAW85461 Hs.434388 Disp;FLJ16659;MGC52282;TMPRSS8;TMPRSS8P APPROVED pseudo ENSG00000172460 28753 07132 VALIDATED 6480139 PRSS3P1 protease, serine, 3 pseudogene 1 7 q34 142468264 142471830 + 8650574 168330 ABBA01034128;AC231380;AMYH01018007;L36092;NG_001333;U66061 2124352 GDB:1318702 TRY5 pseudo 43787 VALIDATED 6480107 PRSS3P2 protease, serine, 3 pseudogene 2 Although this locus appears to encode a protein similar to trypsinogen, the locus is thought to be a transcribed pseudogene. ESTs support its transcription, but expression of its predicted protein has not been observed. Its predicted protein sequence differs significantly from the known functional trypsinogens, including a different amino acid at the conserved residue 122 which is important for autolysis. This pseudogene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008] 7 q34 142478757 142482400 + 10881933;11073713;11702203;17598925;8650574;9732462 154754 ABBA01034128;AC231380;AMYH01018007;BE047035;L36092;NG_001333;NR_001296;U66061 AAC80208 Hs.449281;Hs.728780 1660942;5014816 D7S2928;STS-X15505 T6;TRY6 pseudo ENSG00000250606 43788 VALIDATED 6480138 PRSS3P3 protease, serine, 3 pseudogene 3 7 q34 141987077 141991436 - 8650574 136540 ABBA01034123;AC231381;AMYH01018007;NG_001333;U66059 TRY3 pseudo 43790 VALIDATED 1346659 PRSS23 protease, serine, 23 This gene encodes a member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels after ovulation was induced. This gene seems to be highly conserved in vertebrates and may be an important ovarian protease. [provided by RefSeq, Jul 2008] 11 11 11 q14.1 83822885 83833669 + 86189139 86199923 + 86511491 86522275 + 1580863;6480464 11256614;16870946;16381901;16344560;16303743;16169070;15489336;15489334;12975309;12878157;11076863;12477932;11230166;20532202;16712791;21832049;19322201;21890473;22291950 11098 B4E2J3;E9PIB7;E9PMX2;E9PRR2;O95084 ABBA01017320;AF015287;AF193611;AK075362;AK304054;AK304301;AK315562;AL136914;AMYH01003851;AP000654;AU279649;AY359033;BC001278;BG286404;CB113923;CH471076;CR456824;DA910788;NM_007173 AAD01553;AAF07186;AAH01278;AAQ89392;BAG37938;BAG52121;BAG64963;BAG65155;CAB66848;CAG33105;CAL37410;CAL38408;EAW75145;EAW75146;NP_009104;O95084 Hs.25338 1671285;2109701 PRSS23_9218;SHGC-34130 MGC5107;SIG13;SPUVE;ZSIG13 OTTHUMP00000235513;putative secreted protein Zsig13;serine protease 23;serine protease, umbilical endothelium APPROVED protein-coding ENSG00000150687 14370 07149 VALIDATED 2301124 PRSS41 protease, serine, 41 16 16 16 p13.3 3048418 3055064 + 2788487 2795304 + 2848486 2855133 + 6480464 12838346 360226 Q7RTY9 ABBA01026714;AC092117;AMYH01007085;BN000124;NM_001135086 CAD67575;NP_001128558;Q7RTY9 Hs.647401 TESSP1 TESSP-1;putative serine protease 41;testis serine protease 1;testis-specific serine protease 1 APPROVED protein-coding 30715 15488 PROVISIONAL 1353298 PRSS27 protease, serine 27 Pancreasin is a pancreatic tryptic serine peptidase that cleaves peptides after an arginine residue.[supplied by OMIM, Sep 2003] 16 16 16 p13.3 2961991 2970120 - 2702424 2710553 - 2762423 2770552 - 6480464 18948266;15489334;14702039;12975309;12477932;12441343;23447538 83886 H3BSV0;Q9BQR3 AB056161;ABBA01026711;AC092117;AJ306593;AK055576;AK310214;AMYH01007081;AY030095;AY359106;BC034294;BC036912;CH471112;NM_031948 AAH34294;AAK38168;AAQ89464;BAB85497;BAG51537;CAC35467;EAW85485;EAW85486;NP_114154;Q9BQR3 Hs.332878 5022200;5037552;5118444 D11S3316;D8S2279;L18426 CAPH2;MPN OTTHUMP00000159181;channel-activating protease 2;marapsin;pancreasin;serine protease 27 APPROVED protein-coding 15475 07451 608018 VALIDATED 1602412 PRSS42 protease, serine, 42 3 3 3 p21.31 46810441 46814132 - 46846898 46850589 - 46871894 46875585 - 6480464 14702039;12838346 339906 C9JX34;Q7Z5A4 ABBA01024712;AC109583;AJ544583;AK092703;AMYH01013135;CH471055;NM_182702 AAI40234;CAD67566;EAW64787;EAW64788;EAW64789;NP_874361;Q7Z5A4 Hs.585127 1711352;1735156;2112558 D3S2811E;D3S4337;SHGC-89328 TESSP2 OTTHUMP00000209966;putative testis serine protease 2;serine protease 42;testis serine protease 2 APPROVED protein-coding ENSG00000178055 30716 07156 PROVISIONAL 2801932 PRSS43 protease, serine, 43 3 3 p21.31 46733721 46736858 - 46795176 46798357 - 14702039 100288960 AC109583;AC134504;CH471055;XM_002342351;XM_003119889 EAW64785;XP_002342392;XP_003119937 FLJ35279;FLJ46533;TESSP3 protease, serine, 43 protein-coding 37323 3207614 PRSS44 protease, serine, 44 3 3 p21.31 46825190 46828980 - 46791286 46854064 - 14702039 729756 E7EML9 ABBA01024712;AC109583;AC134504;AMYH01013132;AMYH01013133;AMYH01013134;AMYH01013135;CH471055;XM_003403767;XM_003959971;XM_003960329 E7EML9;EAW64786;XP_003403815;XP_003960020;XP_003960378 1738915;2182874 D3S3185;SHGC-76922 FLJ35279;FLJ46533;TESSP-4;TESSP4 OTTHUMP00000225756;protease, serine, 44;serine protease 44;testis serine protease 4 protein-coding 37324 MODEL 3184187 PRSS46 protease, serine, 46 3 p21.31 46761073 46777921 - 16344560;14702039 100287362 E5RG02 ABBA01024712;AC134504;AMYH01013132;AW183721;DB058077;DB099248;DY654973;NM_001205271 E5RG02;NP_001192200 Hs.673244 FLJ35279;FLJ40347;TESSP6 OTTHUMP00000225755;protease, serine, 46;putative serine protease 46;testis serine protease 6 protein-coding ENSG00000261603 37325 VALIDATED 1322654 PRSS35 protease, serine, 35 6 6 6 q14.2 84655461 84668694 + 84278990 84292142 + 84222194 84235423 + 6480464 16870946;12975309;12477932;16344560;20511563;20877624;23092984 167681 Q8N3Z0 ABBA01040456;ABBA01040457;AK291928;AL121939;AMYH01016470;AY358661;BC037170;CH471051;DA251169;NM_001170423;NM_153362 AAH37170;AAQ89024;ADZ15635;BAF84617;EAW48662;EAW48663;NP_001163894;NP_699193;Q8N3Z0 Hs.98381 1678129 RH93487 C6orf158;MGC46520;dJ223E3.1 OTTHUMP00000016793;inactive serine protease 35 protein-coding ENSG00000146250 21387 07095 VALIDATED 1606403 PRSS38 protease, serine, 38 1 1 1 q42.13 201195098 201225534 + 226070041 226100794 + 228003418 228034171 + 6480464 12838346;12477932 339501 A1L453 AA398170;ABBA01005822;AL356323;AL731702;AMYH01001785;BC130400;BN000131;CH471098;NM_183062 A1L453;AAI30401;ADR82933;CAD67593;EAW69820;NP_898885 Hs.97604 1678463;1761261 RH91993;SHGC-145263 MGC163272;MPN2 OTTHUMP00000035840;marapsin 2;marapsin-2;serine protease 38;serine protease MPN2 APPROVED protein-coding ENSG00000185888 29625 07134 VALIDATED 6895556 PRSS51 protease, serine, 51 8 p23.1 10353836 10405089 - 346702 AC104964;AK307207;CH471157;XM_001721036;XM_001721174 EAW65589;XP_001721088;XP_001721226 Hs.675958 protease, serine, 51 protein-coding 37321 2860194 PRSS53 protease, serine, 53 16 16 16 p11.2 29197373 29202758 + 31002246 31007631 - 31094745 31100130 - 6480464 20953189;12975309;16566820;22451204 339105 Q2L4Q9 ABBA01042077;AC135050;AJ627035;AK131087;AMYH01007503;NM_001039503 AAI72247;AAI72552;BAC85137;CAF25304;NP_001034592;Q2L4Q9 Hs.569575 1678389;1737551;1737575 D16S2660;D16S2666;RH91770 FLJ00289;POL3S;UNQ308 EDTP308;OTTHUMP00000045060;polyserase 3;polyserase-3;polyserine protease 3;serine protease 53 protein-coding ENSG00000151006 34407 610561 VALIDATED 6896923 PRSS52P protease, serine, 52, pseudogene 8 10332392 10356247 - 23251661;20452100 100419209 ABBA01026890;AC104964;AMYH01018477;NG_025997 pseudo 37322 INFERRED 1604236 PRSS37 protease, serine, 37 7 7 7 q34 136257527 136262670 - 141182555 141187690 - 141536078 141541221 - 6480464 14702039;12690205;12477932 136242 A4D1T9;B7ZMK3;F8WBF8;F8WDA6 AA628371;AACC02000020;ABBA01034111;AC093638;AK097648;AK172866;AMYH01017998;AX247864;AX318279;BC137353;BC137354;BC144604;BC144605;CH236950;CH471070;NM_001008270;NM_001171951 A4D1T9;AAI37354;AAI37355;AAI44606;CAC88648;CAD19358;EAL24014;EAW83985;EAW83986;EAW83987;NP_001008271;NP_001165422 Hs.98947 TRYX2 OTTHUMP00000211631;OTTHUMP00000211634;Peptidase S1 domain-containing protein LOC136242;probable inactive serine protease 37;probable inactive trypsin-X2 APPROVED protein-coding ENSG00000165076 29211 17297 VALIDATED 5128927 PRSS56 protease, serine, 56 This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011] 2 2 q37.1 233093553 233098667 + 233385173 233390426 + 7240710 21532570;15146197;21397065;21850159;21963094;23396134;23127749 646960 P0CW18;R4GMZ0 ABBA01002018;AC092165;AMYH01011571;BI464671;CH471063;CN280933;NG_031969;NM_001195129 EAW71002;NP_001182058;P0CW18 Hs.570310 MCOP6 protease, serine, 56;putative serine protease 56;serine protease 56;trypsin serine protease-like APPROVED protein-coding ENSG00000237412 39433 613517;613858 REVIEWED 1604524 PRSS36 protease, serine, 36 16 16 16 p11.2 29136608 29147773 + 31057750 31068888 - 31150247 31161415 - 6480464 15536082;16341674;14702039;8889548;12477932 146547 B4DNP1;I3L3A6;Q5K4E3 ABBA01042079;ABBA01042080;AC009088;AI864473;AJ627034;AK075142;AK290310;AK297997;AK301409;AMYH01007504;AW450407;BC137396;BC144615;BM768465;BQ184141;BU598342;CH471192;CQ783206;NM_001258290;NM_001258291;NM_173502 AAI37397;AAI44616;BAF82999;BAG60303;BAG62942;CAF25303;CAF86411;EAW52153;EAW52154;NP_001245219;NP_001245220;NP_775773;Q5K4E3 Hs.256632 FLJ90661 polyserase 2;polyserase-2;polyserine protease 2;polyserine protease-2;serine protease 36 protein-coding ENSG00000178226 26906 07119 610560 VALIDATED 1605534 PRSS48 protease, serine, 48 4 4 4 q31.3 149522657 149536992 + 152417775 152432055 + 152198325 152212605 + 12838346;12477932 345062 Q7RTY5 ABBA01070109;AC104819;AMYH01014617;BC121109;BC121110;BN000134;CH471056;NM_183375 AAI21110;AAI21111;CAD67963;EAX04985;NP_899231;Q7RTY5 Hs.651266 ESSPL OTTHUMP00000220549;OTTHUMP00000231921;epidermis-specific serine protease-like protein;serine protease 48 APPROVED protein-coding ENSG00000189099 24635 07110 PROVISIONAL 1606871 PRSS45 protease, serine, 45 3 3 3 p21.31 46722083 46724746 - 46758585 46761249 - 46783581 46786245 - 12838346;12477932 377047 E5RIY5;Q7RTY3 ABBA01024712;AC134504;AMYH01013132;AW137088;BC133695;BN000137;CH471055;NM_199183 AAI33696;CAD68171;EAW64784;NP_954652;Q7RTY3 Hs.667712 TESSP5 OTTHUMP00000214814;putative testis serine protease 5;serine protease 45;testis serine protease 5 APPROVED protein-coding 30717 07157 VALIDATED 1603165 PRSS55 protease, serine, 55 This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 8 8 8 p23.1 9510226 9523469 + 10420491 10433738 + 10383056 10411676 + 6480464 12975309;12477932;18844450;23436708;23251661 203074 H0YBF5;Q6UWB4 ABBA01026890;AC104964;AMYH01018477;AY358867;BC033497;BC064412;CH471157;HC007376;NG_027783;NM_001197020;NM_198464 AAH64412;AAQ89226;CBH19493;EAW65590;NP_001183949;NP_940866;Q6UWB4 Hs.591394 T-SP1;TSP1;UNQ9391 OTTHUMP00000159699;OTTHUMP00000224977;probable serine protease UNQ9391/PRO34284;serine protease 55;testis serine protease 1;tryptophan/serine protease APPROVED protein-coding ENSG00000184647 30824 07162 615144 REVIEWED 3438752 PRSS54 protease, serine, 54 16 16 16 q21 42813348 42828405 - 56871402 56886452 - 58313901 58328951 - 12477932;17521433;18029348 221191 F5H6C6;H3BNY0;H3BQS7;Q6PEW0 ABBA01025300;AC009107;AK058068;AK302175;AL137484;AMYH01007710;BC057843;CH471092;NM_001080492 AAH57843;BAB71649;BAG63541;CAB70765;EAW82972;NP_001073961;Q6PEW0 Hs.411239 1684995;1700190;2119570 RH103710;RH69554;RH98341 FLJ25339;KLKBL4 CT67;cancer/testis antigen 67;inactive serine protease 54;plasma kallikrein-like protein 4 protein-coding ENSG00000103023 26336 PROVISIONAL 1347991 PRTH pituitary resistance to thyroid hormone 7240710 5656 9494 145650;188570;274300 1342482 PRSS57 protease, serine, 57 19 19 19 p13.3 120996 132062 + 636546 646461 - 685546 695461 - 18029348;12975309;12477932;9533035 400668 Q6UWY2 ABBA01002580;ABBA01002581;AC004156;AC112708;AMYH01009198;AY358594;BC137161;BC144505;NM_214710 AAI37162;AAI44506;AAQ88957;NP_999875;Q6UWY2 Hs.245146 2153441 RH11517 PRSSL1;UNQ782 GLGL782;protease, serine-like 1;serine protease 1-like protein 1;serine protease 57 APPROVED protein-coding ENSG00000185198 31397 17916 VALIDATED 1606966 PRSS58 protease, serine, 58 This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008] 7 7 7 q34 136729455 136735370 - 141598441 141604347 - 141951958 141957878 - 6480464 14702039;12975309;12690205;12477932;8650574;16751668 136541 Q8IYP2 AA625766;ABBA01034123;AC231381;AK122940;AMYH01018007;AY358487;BC035384;CH236959;CH471198;DQ384426;DQ384427;DQ384428;DQ384429;DQ384431;NG_001333;NM_001001317;U66059 AAH35384;AAQ88851;ABD48876;ABD48877;ABD48878;ABD48879;ABD48880;BAG53808;EAL23772;EAW51980;EAW51981;NP_001001317;Q8IYP2 Hs.98609 1683954 RH92570 FLJ16649;MGC35022;PRSS1;TRY1;TRYX3;UNQ2540 OTTHUMP00000213085;OTTHUMP00000213086;serine protease 58;trypsin X3;trypsin-X3 APPROVED protein-coding ENSG00000258223 39125 15572 REVIEWED 1605685 PRSS50 protease, serine, 50 3 3 3 p21.31 46692302 46698069 - 46728610 46734368 - 46753606 46759373 - 18662669;18462069;15491742;15489334;14702039;12477932;11782390;10397268;21110914;17283160;20506264;21765952;22574111 29122 B3KUP4;Q9UI38 ABBA01024712;AC134504;AF100707;AMYH01013132;BC033016;BC037775;CH471055;CQ964262;NM_013270 AAF22500;AAH33016;AAH37775;ABW03298;CAI30701;EAW64782;NP_037402;Q9UI38 Hs.120365 CT20;TSP50 OTTHUMP00000164713;OTTHUMP00000214804;cancer/testis antigen 20;probable threonine protease PRSS50;serine protease 50;testes specific protease 50;testes-specific protease 50;testis-specific protease-like protein 50 APPROVED protein-coding ENSG00000206549 17910 06405 607950 VALIDATED 5129391 PRUNEP1 prune homolog (Drosophila) pseudogene 1 13 13 13 q12.13 7758185 7761360 - 25589682 25673433 - 26689950 26693125 - 100129595 ABBA01007912;AL138966;AMYH01004982;NG_011454 1739257;1756479;1782818;2155718 D13S1121;RH45794;SHGC-111341;SHGC-143487 pseudo 39723 INFERRED 730925 PRSS8 protease, serine, 8 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. The proprotein is cleaved to produce a light chain and a heavy chain which are associated by a disulfide bond. It is active on peptide linkages involving the carboxyl group of lysine or arginine. [provided by RefSeq, Jul 2008] 16 16 p11.2 31050255 31054652 - 31142754 31147151 - 1580863;2292484;2292485;2292487;2292486;6480464 12518323;11774283;11173941;11584061 10077646;7768952;19388054;19127211;18922802;18583984;18310226;17940283;17532063;17145811;16541421;16103126;16061697;15489334;15474520;15246975;15231748;12626364;12477932;11756432;11274175;8838796;8034638;19262497;19555470;19847458;19849847;19911255;20078940;20089521;20204133;20696767;19606239;21148558;22582115;21678412;21933610;23443662 5652 B4DWP2;H3BUJ8;H3BVC8;Q16651 ABBA01042079;AC009088;AK296656;AK301619;AMYH01007504;BC001462;CH471192;L41351;NM_002773;U33446 AAB19071;AAC41759;AAH01462;ABM83086;ABM86280;BAG59253;BAG63104;EAW52155;EAW52156;NP_002764;Q16651 Hs.75799 1668242;1691078 D16S3336;RH69053 CAP1;PROSTASIN channel-activating protease 1;prostasin;protease, serine, 8 (prostasin);serine protease 8 APPROVED protein-coding ENSG00000052344 9491 02895 600823 REVIEWED 1320925 PRTFDC1 phosphoribosyl transferase domain containing 1 10 10 10 p12.1 24838423 24942409 - 25177560 25281539 - 25137554 25241533 - 6480464 17599052;16928426;16189514;14702039;12477932;8125298;17207965;21054786;22939629;21818316;21139048;21890473;21963094;23251661 56952 Q9NRG1 AB209792;ABBA01034438;ABBA01034439;ABBA01034440;AF226056;AK021950;AK222674;AK294130;AK309614;AL157385;AL512598;AMYH01002196;BC008662;CH471072;NM_020200 AAF86956;AAH08662;ADQ31607;BAB13944;BAD93029;BAD96394;BAH11679;EAW86119;EAW86120;EAW86121;NP_064585;Q9NRG1 Hs.405619 1653521;1739759;1776198;1782140;1782166;1858315;2107529 D10S1619E;PRTFDC1__6941;SHGC-155382;SHGC-155737;STS-AA007506;STS-AA016259;WI-13718 FLJ11888;HHGP OTTHUMP00000019330;OTTHUMP00000019332;phosphoribosyltransferase domain-containing protein 1 protein-coding ENSG00000099256 23333 17917 610751 PROVISIONAL 1606409 PRTG protogenin 15 15 15 q21.3 32792252 32923660 - 53698888 53822469 - 55903738 56035177 - 6480464 12477932;19076634;15922677;14702039 283659 H0YKD6;H0YLD1;H0YLT7;Q2VWP7 AA912476;ABBA01039017;ABBA01039018;ABBA01039019;AC009997;AC012378;AK022857;AK023283;AK098622;AMYH01006672;AMYH01006673;AY630258;BC073967;CH471082;NM_173814 AAI40401;AAU05741;BAC05355;EAW77493;EAW77494;NP_776175;Q2VWP7 Hs.130957 1341738;1680966;1707342;1720417;1771486;1780514;2110919 D15S1029;D15S167E;D15S958;G59011;RH99079;SHGC-79292;bac5082T FLJ12795;FLJ13221;FLJ25756;IGDCC5 immunoglobulin superfamily, DCC subclass, member 5;protein Shen-Dan;protogenin;protogenin homolog (Gallus gallus);shen-dan APPROVED protein-coding ENSG00000166450 26373 18765 613261 VALIDATED 2291812 PRYP1 PTPN13-like, Y-linked pseudogene 1 Y Y q11.221 18351073 18365814 - 19841679 19856420 - 12815422 442863 AC007742;NG_004636 PRY4P;PRYP7 pseudo 34018 VALIDATED 2291811 PRYP2 PTPN13-like, Y-linked pseudogene 2 Y Y q11.221 18782638 18798325 + 20323250 20338937 + 12815422 442864 AC024183;NG_004636 5021800 sY2833 pseudo 34019 VALIDATED 1322392 PRUNE2 prune homolog 2 (Drosophila) 9 9 9 q21.2 49801128 50095673 - 78627991 78710823 - 79226292 79521003 - 737633;6480464 12477932 16288218;19319183;18445682;17961507;17360660;17081983;16344560;16189514;15489334;15164053;12168954;11181995;9205841;19668339;19760627;20379614;20800603;21234814;22863883;22967466;21139048;18029348 158471 B4DJW7;B4DSQ3;E9PDC2;H7BZH9;Q5JUB8;Q5JUB9;Q6T2V6 AB002365;AB050197;AB535152;ABBA01033912;ABBA01033913;ABBA01033914;AK296269;AK298805;AK299857;AL161626;AL359314;AL390239;AL834213;AMYH01021425;AMYH01021426;AMYH01021427;AY439213;AY439214;BC019095;BC022571;BC150641;BQ008420;CH471089;DA410068;FJ808772;FJ808773;NM_015225 AAH22571;AAI50642;AAR15150;AAR15151;ACY78253;ACY78254;ADZ15940;BAA20822;BAD93351;BAG58979;BAG60940;BAG61715;BAJ08045;EAW62581;EAW62582;EAW62583;EAW62584;EAW62585;EAW62586;EAW62587;EAW62588;EAW62594;NP_056040;Q8WUY3 Hs.262857 1337556;1341773;1656352;1664177;1695808;1716251;1717759;1752323;1756411;2115074;2149893;2185014;2185385;5092718;5093914 A005S17;A009Y46;AFM207vb8;D9S1834;D9S1860;D9S2090;G32285;G32998;RH121153;RH121787;RH66281;RH68047;SHGC-106287;SHGC-143385;SHGC-82569 A214N16.3;BMCC1;BNIPXL;C9orf65;DKFZp762K117;FLJ50060;FLJ54876;FLJ59118;KIAA0367;RP11-58J3.2;bA214N16.3 BCH motif-containing molecule at the carboxyl terminal region 1;BNIP2 motif containing molecule at the carboxyl terminal region 1;BNIP2 motif-containing molecule at the C-terminal region 1;OTTHUMP00000021503;olfaxin;protein prune homolog 2;truncated PRUNE2 protein-coding ENSG00000106772 25209 12970 610691 VALIDATED 2291809 PRYP4 PTPN13-like, Y-linked pseudogene 4 Y Y q11.223 26530930 26544271 + 28121542 28134883 + 12815422;17207965 442866 AC007965;NG_004755 ADR82828;O14603 pseudo 34021 VALIDATED 4110642 PRYP7 PTPN13-like, Y-linked pseudogene 7 100419333 AC007742;NG_024772 PRY4P pseudo 38417 1350944 PRUNE prune exopolyphosphatase 1 1 1 q21 124096668 124123871 + 149247597 149274813 + 150980973 151008189 + 6480464;6907045 10602478;18978678;17655525;16428445;15671547;12477932;11687967;10524757;19322201;20735841;20383146;18029348;21139048;18700747 58497 E9PCU1;Q5SZF2;Q5SZG1;Q9C071 ABBA01049365;ABBA01049366;ABBA01049367;AF051907;AF123538;AF123539;AK027875;AK294154;AK298273;AK315120;AK316537;AL122054;AL137324;AL590133;AMYH01001386;BC014886;BC017755;BC025304;BC063481;CH471121;NM_021222;U67085 AAC95290;AAF04914;AAH14886;AAH25304;AAH63481;AAK00592;AAK00593;ABM83745;ABM87064;BAB55423;BAG37575;BAG57478;BAG60534;BAH14908;CAH56396;EAW53485;EAW53486;EAW53487;EAW53488;EAW53489;EAW53490;NP_067045;Q86TP1 Hs.78524 1701632;1735380;2170512;2187329 A004A12;D1S1855E;D1S2426;RH104459 DRES-17;DRES17;HTCD37 Drosophila-related expressed sequence 17;OTTHUMP00000033020;hPrune;protein prune homolog;prune homolog APPROVED protein-coding ENSG00000143363 13420 15188 PROVISIONAL 1349286 PRY2 PTPN13-like, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y q11.223 22627291 22651542 - 24217903 24242154 - 15489334;15177557;12815422;9381176;20301513 442862 O14603 AC007359;CH878735;NG_004755;NG_032918;NM_001002758 AAI48537;AAI53129;EAW61212;NP_001002758;O14603 Hs.632847 2146312;2187995;2187997;5021846;5107375 G34984;G65848;G66147;G66148;sY2986 PRY;PRYP3;PRYP4;PTPN13LY;PTPN13LY2 OTTHUMP00000040528;PTPN13-like protein, Y-linked;PTPN13-like, Y-linked, centromeric;testis-specific PTP-BL-related Y protein;testis-specific PTP-BL-related protein on Y APPROVED protein-coding ENSG00000169807 21504 11851 400041 REVIEWED 2291810 PRYP3 PTPN13-like, Y-linked pseudogene 3 Y Y q11.223 24236875 24250216 - 25827487 25840828 - 12815422;15489334;9381176 442865 AC016752;NG_004755 O14603 pseudo 34020 VALIDATED 1312601 PRTN3 proteinase 3 19 19 p13.3 791985 799175 + 840985 848175 + 1580863;6480464 15527767;2598267;18029348;19494315;19185066;18854317;18596726;18076025;18023421;17785293;17712045;17681950;17634439;17534941;17452051;17412886;17244676;17158864;17088257;16792675;16598772;16478888;16263417;16167885;15975933;15916759;15879139;15686586;15489334;15331626;15057824;14675038;14525959;12960243;12894870;12832446;12538645;12506139;12477932;12444202;12393722;12354776;12200377;12191967;12140766;12135665;12114510;12067299;12010574;11867344;11714826;11389039;11115080;10512713;10498622;10339575;9924693;8757293;8738804;8629812;8261669;7654387;3513185;2679910;2501794;2404977;2377228;2285532;2258701;2242436;2121162;2033050;2001463;1688612;1681549;1518849;1400430;22844112;19913121;20628086;21193404;21193407;10978167;16488976;19447886;19490915;20423453;20592714;20491791;20530264;20059480;20155833;20412702;20412704;20828556;22791638;21470489;21700341;22952809;22210048;22138257;22266279;22270365;22510451;23202369 5657 Q9UQD8 ABBA01002603;ABBA01002604;AC004799;AMYH01009205;BC096183;BC096184;BC096185;BC096186;CH471139;FN647680;M29142;M75154;M96628;NM_002777;X55668;X56132;X56606 AAA36342;AAA59558;AAB59364;AAH96183;AAH96184;AAH96185;AAH96186;CAA39203;CAA39597;CAA39598;CAA39943;CBI83574;EAW69590;EAW69591;NP_002768;P24158 Hs.928 2131165;5120335 GDB:278196;SGC35286 ACPA;AGP7;C-ANCA;CANCA;MBN;MBT;NP-4;NP4;P29;PR-3;PR3 C-ANCA antigen;NP-4;Wegener granulomatosis autoantigen;azurophil granule protein 7;leukocyte proteinase 3;myeloblastin;neutrophil proteinase 4;serine proteinase, neutrophil;wegener autoantigen protein-coding ENSG00000196415 9495 01512 177020 VALIDATED 6484015 PSAT1P3 phosphoserine aminotransferase 1 pseudogene 3 1 p31.1 79520633 79521740 - 729779 ABBA01074382;AC093430;AC098651;AMYH01000725;NG_022726 1692924 AL034174 pseudo 43989 INFERRED 6484034 PSAT1P4 phosphoserine aminotransferase 1 pseudogene 4 3 q26.1 166408976 166409502 + 100287630 ABBA01058738;AC072046;AMYH01013634;NG_022280 pseudo 43990 INFERRED 1345904 PSBP1 prostatic steroid binding protein 1 5661 9499 2303687 PSAT1P1 phosphoserine aminotransferase 1 pseudogene 1 8 8 8 q11.21 46641904 46644097 - 50815329 50816434 - 50651756 50653949 - 6480464 21963094 137133 ABBA01041671;AC113145;AMYH01018708;NG_009632 C8orf62 APPROVED pseudo 15785 INFERRED 731880 PSCD2L pleckstrin homology, Sec7 and coiled/coil domains 3 1580863 9925920 9224 Q15795 U59752 9503 606507 1351983 PRX periaxin This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008] 19 19 q13.2 45591511 45611111 - 40899671 40919271 - 1580863;6480464;7240710 17474147;11133365;18029348;18504680;17081983;16770524;16534116;15489334;15197604;12477932;12112076;12107413;11835375;11430802;11157804;10997877;10848494;10839370;10671475;9143514;14625392;19837996;19950375;21079185;21741241;21044950;22094256;22847150;20301532 57716 Q9BXM0 AB046840;ABBA01040755;ABBA01040756;ABBA01040757;AC010271;AF321191;AF321192;AMYH01009801;AMYH01009802;BC067266;CD674402;CH471126;NG_007979;NM_020956;NM_181882 AAH67266;AAK19279;AAK19280;BAB13446;EAW56962;EAW56963;NP_066007;NP_870998;Q9BXM0 Hs.205457 CMT4F;KIAA1620 periaxin APPROVED protein-coding ENSG00000105227 13797 05758 145900;605725;614895 REVIEWED 1348546 PRY PTPN13-like, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8821100 8845342 - 23045932 23070172 + 24636544 24660784 + 6480464 15489334;15177557;12815422;12477932;11420382;9381176;20301513 9081 O14603 ABBA01005818;ABBA01018411;AC008175;AF000988;AF517635;BC113548;BC113550;BC143893;BC171757;NG_004755;NG_032916;NM_004676 AAC51835;AAI13549;AAI13551;AAI43894;AAI71757;AAN06674;NP_004667;O14603 Hs.158343 2146312;2187995;2187997;5021846;5107375 G34984;G65848;G66147;G66148;sY2986 PRY1;PRY2;PRYP3;PRYP4;PTPN13LY OTTHUMP00000040742;PTPN13-like protein, Y-linked;PTPN13-like, Y-linked;testis-specific PTP-BL-related Y protein;testis-specific PTP-BL-related protein on Y APPROVED protein-coding ENSG00000169789 14024 02460 400019 REVIEWED 733797 PSD pleckstrin and Sec7 domain containing This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 10 q24 97903264 97919799 - 104152366 104168891 - 104162374 104179691 - 6480464;6907045 22002136;17579087;12477932;9417912;16169070;16385451;19773279;10075920;11210544;11535619;15540117;16178029;16291863;16452216;16807779;17640372;17850229;18323689;18490450;19494129;22179719;23603394 5662 A5PKW4;Q86YI3 AB095931;ABBA01063159;AF452641;AI936992;AL121928;AMYH01003017;BC037332;BC039259;BC142643;BC142689;BM920983;CH471066;DB505450;NM_001270965;NM_001270966;NM_002779;NR_073110 A5PKW4;AAH39259;AAI42644;AAI42690;AAP97695;BAC23107;EAW49693;EAW49694;EAW49695;NP_001257894;NP_001257895;NP_002770 Hs.154658;Hs.743732 1651721;1736140;1745959;2113950;2159899 A007E10;AB055379;AI426354;D10S1397E;RH78118 EFA6;EFA6A;KIAA2011;PSD1;TYL OTTHUMP00000020364;PH and SEC7 domain-containing protein 1;exchange factor for ARF6;pleckstrin and Sec7 domain protein;pleckstrin homology and SEC7 domain-containing protein 1;pleckstrin-Sec7 domains-containing APPROVED protein-coding ENSG00000059915 9507 09085 602327 REVIEWED 1322340 PSD2 pleckstrin and Sec7 domain containing 2 5 5 5 q31.2 135250835 135299476 + 139155590 139204232 + 139175406 139224048 + 1580863;6480464;6907045 16381901;15489336;12477932;11256614;11230166;11076863;17148452 84249 Q9BQI7 ABBA01026443;ABBA01026444;AC008667;AL136559;AL834268;AMYH01015654;BC038233;CH471062;NM_032289 AAH38233;CAB66494;CAD38943;CAL38743;EAW62088;EAW62089;NP_115665;Q9BQI7 Hs.21963 1735536;1735556;1740353;1740411;1849570;2136749 A008W02;D5S1667E;D5S1677E;D5S2186E;D5S2224E;D5S2431 DKFZp761B0514 6330404E20Rik;OTTHUMP00000159545;PH and SEC7 domain-containing protein 2;pleckstrin homology and SEC7 domain-containing protein 2 protein-coding ENSG00000146005 19092 15190 PROVISIONAL 1603414 PSAPL1 prosaposin-like 1 (gene/pseudogene) 4 4 4 p16.1 7337125 7341805 - 7482922 7487600 - 7432021 7436700 - 6480464 15489334;14702039;12477932;9847074 768239 Q6NUJ1 ABBA01012747;AC080003;AK097698;AMYH01013926;BC034552;BC048325;BC063708;BC068579;DQ991252;FJ695208;NM_001085382 AAH68579;ABJ55983;BAC05143;NP_001078851;Q6NUJ1 Hs.662523 FLJ40379 OTTHUMP00000217346;proactivator polypeptide-like 1;prosaposin-like protein 1 APPROVED protein-coding ENSG00000178597 33131 VALIDATED 736284 PSAP prosaposin This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 q21-q22 73246061 73281088 - 73576055 73611082 - 1580863;6480464;7240710 18761669;10682309;1958198;2717620;1454804;18029348;19581582;19471889;19267410;18481277;17961073;17893707;17712477;17561962;17372201;17300216;17171640;17044040;16823039;16713569;16199891;16080200;15897971;15606899;15548330;15489334;15305334;15231748;14716313;14674747;12813057;12518053;12510003;12477932;12083803;11856752;11734895;11313879;11309366;11231313;11180632;10562467;10510427;10406958;9751800;8641138;8554069;8370464;8323276;8125298;7866401;7730378;7613473;6256275;3478817;3442600;3242555;3048308;2868718;2845979;2842863;2825202;2515150;2498298;2320574;2302219;2209618;2066109;2060627;2025281;2019586;2013321;1612590;1371116;16169070;20484222;15047825;14630798;16385451;20132547;20379614;19224915;21328455;22863883;22990118;22738294;21555518;22939629;21856303;21743296;21900206;21139048;21906983;21943334;17110338;23022198 5660 B1AVU8;C9JIZ6;Q53Y86 AB209776;ABBA01020372;ABBA01020373;AC073370;AF057307;AF307850;AK057878;AK129790;AK223290;AK293672;AK299184;AK307721;AL731541;AMYH01002817;BC001503;BC004275;BC007612;BC091483;BT006849;CH471083;CR456746;D00422;J03015;J03077;M12710;M32221;M60255;M60257;M60258;M81355;M86181;NG_009301;NM_001042465;NM_001042466;NM_002778;X57107;X57108 AAA36594;AAA36595;AAA36596;AAA52560;AAA60303;AAB59494;AAC64921;AAG31635;AAH01503;AAH04275;AAH07612;AAH91483;AAP35495;ABM83935;ABM87254;BAA00321;BAD93013;BAD97010;BAG57116;BAG61229;CAA40391;CAA40392;CAG33027;EAW54436;EAW54437;EAW54438;NP_001035930;NP_001035931;NP_002769;P07602 Hs.523004 1647953;1716917;1736018;1736022;1736026;1857086;2133404;2151661;2181183 D10S1299E;D10S1301E;D10S1303E;D10S2162;RH11184;RH121750;RH41802;RH68874;STS-J03077 FLJ00245;GLBA;MGC110993;SAP1 OTTHUMP00000019776;OTTHUMP00000019777;proactivator polypeptide;prosaposin;prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy);sphingolipid activator protein-1 APPROVED protein-coding ENSG00000197746 9498 01460 176801;249900;610539;611721;611722 REVIEWED 1321185 PSCA prostate stem cell antigen This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 8 8 q24.2 143758877 143761145 + 143751726 143764145 + 1580863;6480464 9465086;18838214;18488030;18184265;18076024;17853904;17549363;22481254;17503471;17492652;16957968;16341674;16024997;16015594;15814638;15489334;15340161;14702039;12975309;12496358;12477932;12351697;11980648;11752398;11406532;10973799;10713670;15765097;21538581;21497359;20502058;21064099;21070776;21070779;20501618;18440837;19180924;19343734;19462463;19554573;19582881;19648920;19822092;20039280;20043108;20082273;20083643;20085909;20131315;20230293;20374648;20507324;22778595;20955382;20972438;17207965;22502712;21268123;22938426;22938475;21681742;22155405;21503583;19861285;22536409;21914346;21748756;22416122;22387998;21936014;22426141;22824379;22796266 8000 D3DWI6;H0YAA6;O43653 ABBA01005289;AC108002;AF043498;AI685668;AJ297436;AMYH01019091;AY358912;BC023582;BC048808;BC065183;BI758811;BM768967;BU157227;CB993163;CH471162;CS448246;NG_011722;NM_005672;NR_033343 AAC39607;AAH23582;AAH65183;AAQ89271;ADQ32138;CAB97347;CAL69804;EAW82312;EAW82313;NP_005663;O43653 Hs.652235 1336478;2107531;5111610 D8S1836;PSCA__6943;RH80181 PRO232 OTTHUMP00000221185;prostate stem cell antigen APPROVED protein-coding ENSG00000167653 9500 03919 602470 REVIEWED 1607031 PSAT1 phosphoserine aminotransferase 1 This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013] 9 9 9 q21.2 51489329 51522284 + 80101879 80134829 + 80912059 80945009 + 6480464;6907045;7240710 10637769;18221502;15489334;12633500;12477932;3651428;21319273;20955740;21832049;22863883;22939629;22360420;16196087;16263121;21963094;21988832;23000965;18781797;20639865;21900206;17436247;20972266;21139048;21890473;21906983;22589738;23251661;23824909;22053931;22190034;22505724 29968 Q9Y617 ABBA01033944;ABBA01033945;AF113132;AK025460;AK295222;AK295310;AL353594;AMYH01021434;AY131232;BC000971;BC004863;BC016645;BC018129;BT006840;CH471089;DC300904;DC332195;NG_012165;NM_021154;NM_058179 AAD42052;AAH00971;AAH04863;AAH16645;AAH18129;AAN71736;AAP35486;ABM85052;BAG58215;BAG58289;EAW62617;EAW62618;EAW62619;EAW62620;EAW62621;EAW62622;EAW62623;NP_066977;NP_478059;Q9Y617 Hs.494261 1664263;1689123;1689749 G19639;RH66326;RH66846 EPIP;MGC1460;PSA;PSAT OTTHUMP00000021524;OTTHUMP00000021525;endometrial progesterone-induced protein;phosphohydroxythreonine aminotransferase;phosphoserine aminotransferase APPROVED protein-coding ENSG00000135069 19129 17918 610936;610992 REVIEWED 1344333 PSG10P pregnancy specific beta-1-glycoprotein 10, pseudogene The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40141645 40160366 - 48033251 48051735 - 43341149 43359870 - 1580863 15057824;8349632;2789512;2783133;2537643;2377620;2271648;1690992;1572651 653492 ABBA01040855;AC004603;AC005238;AF106559;AF106560;AK309876;AMYH01009834;L14723;L14724;L14725;L14726;L14727;L14728;L14729;M74108;NR_026824 Hs.655399;Hs.733002 1651955;5017140;5091482 SHGC-36197;STS-T95748;WI-17469 PSG10;PSG12 APPROVED pseudo 9515 176399 PROVISIONAL 1603689 PSD3 pleckstrin and Sec7 domain containing 3 8 8 8 p21.3 17351147 17835744 - 18429093 18915476 - 18384813 18871196 - 6480464;6907045 18649358;16344560;16270321;15489334;14702039;12477932;12168954;12097419;10231032;17148452;20080650;20379614;20736409;21507922;21275903;16196087;23000965;23251661 23362 B3KRC4;B4DKF8;E5RFG7;E5RH02;E5RIH3;E5RJ29;E5RJE4;H0YAQ7;H0YC20;J3KQK0;Q9NYI0 AB023159;ABBA01021569;ABBA01021570;ABBA01021571;AC009884;AC087821;AC090420;AC100800;AC120051;AF243495;AF519767;AK091317;AK296546;AK313826;AK315099;AL353936;AL599849;AL832778;AMYH01018550;AMYH01018551;AMYH01018552;AMYH01018553;BC011238;BC045112;BC075044;BC075045;BX647320;BX647406;CH471080;DB055312;GU727648;NM_015310;NM_206909 AAF61269;AAH11238;AAH75044;AAH75045;AAM74203;ACE86807;ACE86812;ACE87494;ACE87499;ADU87649;BAA76786;BAG36561;BAG52336;BAG59170;CAI46004;EAW63779;EAW63780;EAW63781;EAW63782;EAW63783;EAW63784;NP_056125;NP_996792;Q9NYI0 Hs.434255 1650315;1651646;1655217;1655219;1676210;1677202;1706554;1714809;1727535;1728577;1730759;1749919;1750115;1767351;1774314;1836908;1856889;2113884;2162865;2177461;2181093;2182672;2183356;2186808 A005X11;A009G21;AB056822;CHLC.GGAT12E04;D8S1591;D8S1900;D8S297E;ECD19618;G17274;G19219;G20566;G63025;G63580;RH120071;RH35906;RH47419;RH80712;RH98309;SHGC-111637;SHGC-112344;SHGC-24261;SHGC-56755;SHGC-81254;STS-N25188 DKFZp761K1423;EFA6R;HCA67 ADP-ribosylation factor guanine nucleotide factor 6;OTTHUMP00000224594;OTTHUMP00000224595;OTTHUMP00000224597;PH and SEC7 domain-containing protein 3;epididymis tissue protein Li 20mP;exchange factor for ADP-ribosylation factor guanine nucleotide factor 6;hepatocellular carcinoma-associated antigen 67;pleckstrin homology and SEC7 domain-containing protein 3 protein-coding ENSG00000156011 19093 11462 614440 VALIDATED 1321104 PSD4 pleckstrin and Sec7 domain containing 4 2 2 2 q13 107316145 107345262 + 113648031 113677148 + 113931560 113960677 + 1580863;6480464;6907045 18084281;15815621;15489334;14702039;12477932;12082148;11050434;8889548;20339350 23550 B8ZZZ5;H7BZ06;Q8NDX1 AA429250;AB208798;ABBA01074243;AC016683;AJ459781;AK023421;AK093556;AK094598;AK290045;AK294268;AMYH01010967;BC035307;BC073151;BM930990;BQ061445;BU947428;CH471217;DQ452296;NM_012455;U63127 AAD00107;AAH35307;AAH73151;AAX88879;ABD96831;ABW03422;BAD92035;BAF82734;BAG51189;BAG57560;CAD30842;EAW73626;EAW73627;EAW73628;NP_036587;Q8NDX1 Hs.516306 1668980;1687772;2159118 D2S2911;RH47027;RH92848 EFA6B;FLJ36237;FLJ37279;TIC ADP-ribosylation factor guanine nucleotide-exchange factor 6;OTTHUMP00000203725;OTTHUMP00000203727;OTTHUMP00000203728;PH and SEC7 domain-containing protein 4;SEC7 homolog;exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B;exchange factor for ADP-ribosylation factor guanine nucleotide factor 6B;exchange factor for ARF6 B;pleckstrin homology and SEC7 domain-containing protein 4;telomeric of interleukin-1 cluster protein protein-coding ENSG00000125637 19096 15191 614442 VALIDATED 1353660 PSG11 pregnancy specific beta-1-glycoprotein 11 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40206738 40331136 - 48203649 48222471 - 43511809 43530631 - 1580863 1690992;7794280;12477932;10737800;7851895;1840485;17207965;22748001 5680 M0R276;M0R2P9;Q9UQ72 ABBA01040855;AC004784;AC005947;AF129398;AMYH01009834;BC020711;BE767872;BF084984;BG571293;BG619770;CH471126;M69245;NM_001113410;NM_002785;NM_203287;R66665;U25988 AAA36516;AAA75299;AAD38357;AAH20711;ADQ32252;EAW57166;EAW57167;EAW57168;NP_001106881;NP_002776;NP_976032;Q9UQ72 Hs.741150 1662658;1673558;1725813;1761095;2110681;2119730;2139808;5106173;5120782 A009J14;G61993;GDB:374803;PSG11_3147;RH69096;RH69424;RH70030;SHGC-145082;SHGC-35289 MGC22484;PSBG-11;PSBG-13;PSG13;PSG14 OTTHUMP00000200192;OTTHUMP00000200193;OTTHUMP00000200194;PS-beta-G-11;PS-beta-G-13;PSBG-11;PSBG-13;pregnancy specific beta-1-glycoprotein 13;pregnancy-specific beta-1-glycoprotein 11;pregnancy-specific beta-1-glycoprotein 13;pregnancy-specific glycoprotein 11;pregnancy-specific glycoprotein 13 APPROVED protein-coding ENSG00000243130 9516 08898 176401 VALIDATED 1347919 PSENEN presenilin enhancer 2 homolog (C. elegans) Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 19 19 q13.12 40928334 40929743 + 36236494 36237903 + 2302204;6480464;6484113;6907045;7240710 17761886 16641999;15274632;19036728;17668005;17280645;16449647;16331303;16234244;16234243;15975090;15953349;15489334;15322109;15322084;14572442;12763021;12740439;12679784;12660785;12639958;12522139;12477932;12198112;12110170;20534834;12787561;12843241;15721744;16630834;17986144;19889971;20178366;20929727;22622421;20847418;21412258;21454611;15474363;16712791;22479317;21852538;22689582;23096707;21988832;23134962;23246698;22787762 55851 K7ES79;Q9NZ42 ABBA01018763;AD000671;AF220053;AK312233;AMYH01009732;BC009575;BE563017;BQ222622;BU934029;CB136623;NG_027934;NM_001281532;NM_172341 AAF67646;AAH09575;ABM84021;ABM87367;BAG35166;NP_001268461;NP_758844;Q9NZ42 Hs.534465 1680268;1683303 RH91910;RH99245 MDS033;MSTP064;PEN-2;PEN2 gamma-secretase subunit PEN-2;hematopoietic stem/progenitor cells protein MDS033;presenilin enhancer protein 2 APPROVED protein-coding ENSG00000205155 30100 06362 607632;613736 REVIEWED 733569 PSEN2 presenilin 2 (Alzheimer disease 4) Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008] 1 1 q31-q42 225124896 225150427 + 227058273 227083804 + 729530;1302522;1300048;1302521;2302204;2302525;6480464;6907045;7240710 11803125;9246481;10518543;17761886;16474849 16375654;16344560;16258850;16233903;16135086;16014629;15975068;15951428;15776278;15755689;15663477;15629423;15591316;15537629;15534001;15489334;15006697;15004330;14769392;14741365;14577603;14504279;12925374;12885769;12846562;12817569;12770698;12639958;12605888;12556443;12477932;12471034;12403846;12232783;12210343;12198112;12173418;12058025;12048259;11987239;11904448;11891288;11876645;11847232;11799129;11738826;11719200;11568920;11518718;11436125;11076969;11001931;10993067;10922078;10854253;10748169;10732806;10677567;10652302;10631141;10497236;10446169;10369872;10366599;10361981;10078972;10069390;10037471;9990034;9852298;9813158;9771752;9683324;9558331;9521418;9450781;9437013;9384602;9298903;9252383;9219695;9073509;9050898;8972483;8940094;8939861;8878479;8661049;8618867;8574969;7651536;12297508;15274632;19276543;19073399;19036728;18842294;18727676;18667258;18591429;18427071;18350357;18293935;18283638;18087668;17903177;17727891;17614368;17560791;17412506;17401676;17401156;17345043;17268505;17268504;16620965;16423463;22755192;7638622;7638621;11278424;12196555;9223340;9632714;19913121;20628086;20677014;22580083;20850903;12787561;12843241;15721744;16630834;17986144;19573580;19768372;19834068;19889971;20008660;20009122;20375137;20468060;20164579;20457965;20333730;21285369;20701429;15474363;21163940;22872014;21234330;21959359;23589300;23707529;19382908;21914807;20594621;22302987;22045484;22312439;16813565;21906983;22074918;22249458;22027014;21545304;21409510;20301340;20301414;20301486;21963094;22503161;18996842;22753229 5664 B1AP22;C9J5P7;E5RFW4;E5RG63;E5RHT1;E5RJ26;E5RJM5;P49810 ABBA01009628;AF416718;AI091221;AK292299;AK301143;AL359732;AL391628;AMYH01001779;BC006365;BT006984;CH471098;DA198818;DA915823;L43964;L44577;NG_007381;NM_000447;NM_012486;U34349;U50871 AAB50054;AAB59557;AAC42012;AAC50290;AAH06365;AAL16812;AAP35630;ABM81572;ABM84752;BAF84988;BAG62735;EAW69796;EAW69797;EAW69798;EAW69799;EAW69800;NP_000438;NP_036618;P49810 Hs.25363 1335316;1679357;1798028;2136941;5037692;5037694 D1S3685E;D1S3686E;D1S479;PSEN2_2369;RH80332;SHGC-35541 AD3L;AD4;CMD1V;PS2;STM2 AD3LP;AD5;Alzheimer's disease 3-like;E5-1;OTTHUMP00000035671;OTTHUMP00000035672;OTTHUMP00000228286;OTTHUMP00000228288;PS-2;STM-2;presenilin-2 APPROVED protein-coding ENSG00000143801 9509 02860 600759;606889;613697 REVIEWED 1352538 PSG1 pregnancy specific beta-1-glycoprotein 1 The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009] 19 19 q13.2 48063198 48075711 - 43370613 43383871 - 1580863;6480464 1572651;18987160;16381901;16303743;15489336;15489334;15057824;14702039;12477932;12223519;11076863;9290143;7794280;3265688;3260773;3257488;3180995;2786492;2783133;2735907;2541441;2537643;2377620;2350345;2346748;2341148;16169070;20335639;21193412;19911417;971765 5669 G5E9F7;M0QY44;M0QZQ1;M0R235;Q6ICR4 ABBA01040855;AC005238;AK056754;AK300152;AK300206;AK311491;AMYH01009834;BC022338;BC058285;CH471126;CR450329;HC007234;J04539;M17908;M17909;M20879;M20881;M21822;M22437;M25385;M33663;M33664;M34715;M37397;NM_001184825;NM_001184826;NM_006905 AAA36511;AAA36513;AAA36515;AAA36517;AAA52590;AAA52591;AAA52601;AAA52602;AAA52603;AAA60196;AAA60204;AAA60960;AAC25484;AAC25485;AAC25486;AAC25487;AAC25488;AAC25489;AAC25490;AAH22338;AAH58285;BAG61937;BAG61977;CAG29325;CAL38076;CAL38478;CAL38521;CBH19422;EAW57154;EAW57155;EAW57156;EAW57157;EAW57158;EAW57159;EAW57160;EAW57161;NP_001171754;NP_001171755;NP_008836;P11464 Hs.709192 1337068;2150413;5017140;5091482;5096147;5106321;5106569;5120778;7183715;7185348 D19S1087;D19S211;GDB:374795;RH46317;STS-M30629;STS-T95748;WI-11896;WI-17469 B1G1;CD66f;DHFRP2;FL-NCA-1/2;FLJ90598;FLJ90654;PBG1;PS-beta-C/D;PS-beta-G-1;PSBG-1;PSBG1;PSG95;PSGGA;PSGIIA;SP1 CD66 antigen-like family member F;FL-NCA-1/2;OTTHUMP00000199195;OTTHUMP00000199196;OTTHUMP00000199197;OTTHUMP00000199198;PS-beta-C/D;PS-beta-G-1;PSBG-1;PSG95;fetal liver non-specific cross-reactive antigen 1/2;pregnancy-specific B-1 glycoprotein;pregnancy-specific beta-1 glycoprotein C/D;pregnancy-specific beta-1-glycoprotein 1;pregnancy-specific glycoprotein 1 APPROVED protein-coding ENSG00000231924 9514 01449 176390 VALIDATED 1343677 PSG2 pregnancy specific beta-1-glycoprotein 2 The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.1-q13.2 40368864 40387393 - 48260202 48278654 - 43568362 43586893 - 1580863;6480464 3260773;15906358;15489334;15231748;15057824;12477932;8432525;2377620;2350345;1690992;20071292;7851896;20028516 5670 P11465 ABBA01040855;AC005791;AC024077;AMYH01009835;BC022316;CH471126;HC007238;M20882;M37398;NM_031246 AAA52604;AAA60959;AAC62831;AAH22316;ABM82285;ACE87068;ACE87750;CBH19424;EAW57169;EAW57170;NP_112536;P11465 Hs.709200 1725813;2138201;5017140;5106173;5120782 G61993;GDB:374803;RH69096;STS-N26627;WI-17469 CEA;PSBG2;PSG1;PSGGB OTTHUMP00000200195;OTTHUMP00000200196;OTTHUMP00000200197;OTTHUMP00000200198;PS-beta-E;PS-beta-G-2;PSBG-2;Pregnancy-specific beta-1-glycoprotein-2;carcinoembryonic antigen SG8;pregnancy-specific beta-1 glycoprotein E;pregnancy-specific beta-1-glycoprotein 2;pregnancy-specific beta-1-glycoprotein 7;pregnancy-specific glycoprotein 2 APPROVED protein-coding ENSG00000242221 9519 08891 176391 VALIDATED 731724 PSEN1 presenilin 1 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008] 14 14 q24.3 72672932 72756862 + 73603143 73690399 + 1580694;1331525;1302519;729595;1300048;1302520;1334462;1580863;2302204;6480464;6484113;6907045;7240710 16079160;15118671;7596406;12401445;9160754;14986688;17761886 21296022;10551805;11104755;8755489;15274632;10805794;11953314;10206644;17431506;9689133;9298903;8878479;12377771;9246482;19292975;19276551;19276550;19272356;19260824;19232479;19036728;19017784;19015863;19001354;18996842;18971484;18957849;18842294;18830724;18801744;18762245;18706205;18667537;18667258;18637955;18591429;18587238;18580586;18579078;18525293;18479822;18445230;18437002;18430735;18403054;18376127;18350357;18320103;18317569;18299393;18293935;18239458;18174159;18090315;18028191;18024701;17968601;17962197;17942194;17852592;17719017;17718701;17645236;17632280;17630980;17627113;17594345;17588625;17573346;17560791;17553989;17507029;17502474;17489097;17412506;17405936;17401156;17389597;17366635;17349981;17320044;17309564;17268505;17268504;17259169;17229472;17210196;17192785;17158800;17108181;17099291;17088253;17081983;16952411;16941492;16938285;16916581;16908988;16897084;16846981;16815845;16814287;16756946;16735229;16628450;16620965;16605258;16574645;16569643;16423463;16407539;16401857;16388371;16376112;16344560;16344340;16306047;16305624;16267640;16234244;16234243;16139258;16135086;16128583;16126725;16116115;16046406;16014629;16006137;15975090;15975068;15951428;15946688;15936948;15917251;15908021;15866047;15851849;15843437;15776278;15764596;15764367;15743767;15732120;15722417;15703411;15629423;15622541;15591316;15569674;15549135;15537629;15534260;15534188;15534001;15489334;15480879;15480851;15476169;15469450;15345747;15341515;15340889;15322084;15308304;15294909;15272895;15240571;15210705;15209417;15205973;15192701;15159497;15147205;15123653;15123598;15122701;15119739;15115757;15087467;15004326;15003276;14993906;14769392;14759258;14741365;14717705;14702039;14645205;14625299;14590205;14581682;14576165;14572442;14515347;14504279;14502086;13678586;12960155;12935881;12925374;12901838;12885769;12885573;12850546;12846562;12821663;12817569;12805290;12794186;12752408;12742741;12740439;12686406;12679784;12668610;12660785;12639958;12629514;12609057;12603837;12551931;12535650;12522139;12508121;12495082;12493737;12484344;12477932;12471034;12470641;12460547;12444985;12435726;20301340;20301414;20301486;20301678;22045484;22133015;22312439;12413003;12374741;12354302;12297508;12297048;12230303;12218704;12214059;12207970;12198112;12196555;12192622;12147673;12121968;12119298;12112163;12111439;12070348;12058025;12056836;12050157;12048259;12048239;11987239;11973477;11943765;11927360;11920851;11912199;11905990;11904448;11891288;11876645;11836371;11827452;11799129;11775232;11757955;11755019;11744687;11738826;11719200;11710891;11568920;11524469;11518718;11504726;11444983;11436125;11389157;11226248;11200686;11168528;11140838;11129109;11110974;11094121;11076969;11030797;11027672;10993067;10899933;10854253;10811883;10635315;10631141;10593990;10587643;10545183;10533070;10521466;10447269;10446169;10441572;10439444;10401002;10369872;10366599;10208590;10208579;10206645;10200054;10092585;10090481;10077672;10069390;10037471;10025789;9915968;9851450;9851443;9833068;9831473;9738936;9719376;9712537;9544835;9521423;9521418;9507958;9485372;9443865;9437013;9436726;9384602;9298817;9225696;9223106;9173929;9172170;9144240;9073509;9070286;9052708;9013610;9007311;8931704;8922407;8875251;8837617;8804415;8742474;8733303;8641442;8634712;8634711;8574969;8125298;7651536;7623584;7550356;1411576;1349467;1303289;19012753;11847232;9771752;15257293;10341227;10527805;20970889;22426017;22755192;9852041;15037614;15322109;14756819;15448688;15109302;10801777;9223340;10891589;9632714;21115843;10801983;16959576;20160458;20541250;20307581;20052609;20388456;20534741;20677014;20418378;17207965;18790549;20158511;12787561;12843241;15721744;16511561;16630834;16641999;17360711;17986144;18314228;19111578;19221408;19650138;19667325;19675248;19682973;19710022;19797784;19849793;19853643;19885829;19889475;19889971;19924286;20008141;20008660;20009122;20018629;20034479;20106965;20164095;20219685;20299451;20379614;20413895;20481270;20484632;19834068;20456003;20880607;20237298;20460383;20929727;20168091;20036849;20445084;21033353;20806406;21305049;21784978;20701429;20847436;20858963;20858974;20399254;21277951;21163940;22230888;22622421;22939629;23137948;23137949;21143716;21297272;20847418;21144619;21959359;21559374;21323574;15474363;21656036;21422519;21919498;21914807;21951279;21762767;21860086;22443192;21238544;23237322;21139048;21726674;21852538;21906983;22074918;23674689;23707529;20594621;21621296;22311977;22459153;22508690;22607268;22634208;21545304;22393443;22461631;23123781;19796846;19833411;21929538;22027014;22045496;22214483;22505025;16813565;22297172;23026200;23046926;22503161;22753898;22689582;14550564;22561329;23575824;23138650;23064434;23134660;23396974;23584198;23096707;23291095;21988832;22810102;22879628;23000965;20724034;22014620;22529981;22975585;22572737;22766738 5663 E7ES96;G3V2B1;G3V2G7;G3V3P0;G3V3Z0;G3V449;G3V490;G3V499;G3V4M0;G3V4P4;G3V519;G3V5B1;H0YM52;H0YNU4;P49768 AB159776;ABBA01030764;ABBA01030765;ABBA01030766;ABBA01030767;AC004846;AC004858;AF109907;AF416717;AJ008005;AK094186;AK094256;AK122722;AK223173;AK303876;AK312531;AMYH01005841;AMYH01005842;AMYH01005843;AW069286;BC002708;BC011729;CH471061;D84149;DA670846;DB075605;DB203403;L42110;L76517;L76528;NG_007386;NM_000021;NM_007318;U40379;U40380 AAB05894;AAB05895;AAB46370;AAB46371;AAB46416;AAC97960;AAF19253;AAF19254;AAH11729;AAL16811;ADQ31747;BAA20883;BAD30017;BAD96893;BAG35430;BAH14071;CAA07825;EAW81091;EAW81092;EAW81093;EAW81094;EAW81095;EAW81096;EAW81097;NP_000012;NP_015557;P49768 Hs.3260 1334799;1649303;1653230;1659597;1665684;1668940;1696106;1739681;1739683;1739685;1739687;1740693;1769188;1773195;1787846;1796580;1851574;2117379;2132547;2135606;2137601;2141740;2143312;2143664;2146782;2152241;2166219;2167617;2168422;2169259;2172045;2172902;2179155;2181072;5015961;5121780 A005E05;D14S1264;D14S1438;D14S1439;D14S1440;D14S1442;D14S43;D15S1477;G35501;G35565;G35665;G38066;G38068;G38129;G38133;G38136;G38175;G38176;G38182;G38184;G38198;G38203;G38215;G38218;G38220;G38272;G38323;G38324;PSEN1_232;RH77790;SGC34362;SHGC-132632;SHGC-31609;SHGC-36769;SHGC-78932;WI-11404 AD3;FAD;PS-1;PS1;S182 OTTHUMP00000180587;OTTHUMP00000180588;OTTHUMP00000180589;OTTHUMP00000180591;OTTHUMP00000246399;OTTHUMP00000246538;OTTHUMP00000246578;PS-1;presenilin 1;presenilin 1 (Alzheimer disease 3);presenilin-1 APPROVED protein-coding ENSG00000080815 9508 00087 104311;172700;600274;607822;613694;613737 REVIEWED 1348613 PSG4 pregnancy specific beta-1-glycoprotein 4 The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40497440 40510369 - 48388694 48401630 - 43696854 43709790 - 1580863;6480464 7794280;12477932;10737800;9645429;7851895;3180995;2783133;2537643;2346490;2271648;1922019;1690992;7851896 5672 B3KQL2;C9JWP2;E7EX79;M0QY31;M0QYU2;M0R046;M0R0B3;M0R215;M0R2A2;M0R2U8;M0R2Y7;Q00888;Q6P520;Q96QL5 ABBA01040855;AC005392;AF288220;AF289606;AK075149;AMYH01009835;BC008405;BC013431;BC035419;BC063127;BG006351;BX403624;CH471126;HC007242;M32623;M32624;M32625;M32626;M32627;M33665;M94891;NM_001276495;NM_002780;NM_213633;U18468;U18469;X17097 AAA60195;AAA60208;AAA75294;AAA75295;AAF91489;AAH08405;AAH63127;AAL55790;BAG52074;CAA34956;CBH19426;EAW57174;EAW57175;EAW57176;EAW57177;NP_001263424;NP_002771;NP_998798;Q00888 Hs.711363 1688596;2138201;2150413;5015480;5091482;5114353;5120778;5120806;5125018 D19S1087;GDB:374795;GDB:375167;RH18009;RH39145;RH46954;RH99270;STS-N26627;STS-T95748 PSG9 OTTHUMP00000200189;OTTHUMP00000200190;PS-beta-G-4;PS-beta-G-9;PSBG-4;PSBG-9;Pregnancy-specific beta-1-glycoprotein-4;pregnancy-specific beta-1-glycoprotein 4;pregnancy-specific beta-1-glycoprotein 9;pregnancy-specific glycoprotein 4;pregnancy-specific glycoprotein 9 APPROVED protein-coding ENSG00000243137 9521 08893 176393 VALIDATED 1345606 PSG3 pregnancy specific beta-1-glycoprotein 3 The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40026127 40045001 - 47917634 47936508 - 43225794 43244668 - 1580863;6480464 2302228;2341148;3265688;16344560;15489334;15231748;15057824;12477932;8487756;7851895;2788412;2387594;2350345;7851896 5671 M0QX68;M0QXP2;Q16557 A23031;ABBA01040855;AC004654;AC005337;AMYH01009834;BC005924;BG620196;CH471126;DA833589;HC007240;M23575;M27907;M30628;M34420;M37399;M93061;NM_021016;S59493;S59494 AAA52606;AAA52607;AAA57349;AAA60207;AAA60958;AAA66498;AAC15513;AAC60584;AAC60585;AAH05924;ABM87461;ABW03894;CAA01646;CBH19425;EAW57146;EAW57147;EAW57148;NP_066296;Q16557 Hs.654413 5017140;5091482;5120784;5126518 D19S1094;GDB:374810;STS-T95748;WI-17469 OTTHUMP00000199194;PS-beta-G-3;PSBG-3;carcinoembryonic antigen SG5;pregnancy-specific beta-1-glycoprotein 3;pregnancy-specific glycoprotein 3 APPROVED protein-coding ENSG00000221826 9520 08892 176392 VALIDATED 1347296 PSIP1P1 PC4 and SFRS1 interacting protein 1 pseudogene 1 9 9 9 p22.2 14988586 14990219 + 15044890 15046726 + 15054965 15056598 + 353329 ABBA01065288;AL592293;AMYH01019242;NG_002792 1698196 RH102634 PSIP1P APPROVED pseudo 31132 INFERRED 2881563 PSIP1P2 PC4 and SFRS1 interacting protein 1 pseudogene 2 Y Y Y q11 2812651 2813423 - 14339239 14340211 - 15829945 15830717 - 12815422;9847074 360022 ABBA01065493;AC006371;NG_002938 pseudo 23968 INFERRED 1347251 PSG7 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The reference genome contains a nonsense mutation that disrupts the coding sequence, suggesting that this gene may be evolving into a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] 19 19 19 q13.2 40228782 40241835 - 48120124 48133170 - 43428284 43441330 - 1580863;6480464 1690992;15057824;12477932;11501563;7851895;7794280;7566098;2377620;1572651;15342556;16344560;18792801;19562724;20116096;2328001 5676 Q13046;Q15230 ABBA01040855;AC005260;AC093055;AF106553;AF106554;AL546656;AMYH01009834;BC030979;BC136401;BG434892;BP321474;BX097470;BX952498;CH471126;DB381347;DC380850;M32619;M37754;M37755;M74105;NM_001206650;NM_002783;NR_073194;T29414;U18467 AAA60199;AAA60200;AAA75293;AAC25621;EAW57164;EAW57165;NP_001193579;NP_002774;Q13046 Hs.709203 2119730;2139808;5015480;5126518 A009J14;D19S1094;RH46954;SHGC-35289 PSBG-7;PSG1;PSGGA OTTHUMP00000209547;PS-beta-G-7;PSBG-7;pregnancy-specific beta-1-glycoprotein;pregnancy-specific glycoprotein 7;putative pregnancy-specific beta-1-glycoprotein 7 APPROVED protein-coding 9524 08896 176396 REVIEWED 1353998 PSG5 pregnancy specific beta-1-glycoprotein 5 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40472487 40491282 - 48363735 48383286 - 43671895 43690688 - 1580863;6480464 1690992;17978129;16563348;16344560;15489334;15231748;12477932;8889549;7851895;7794280;2789512;2735907;2537643;1922019;1454058;17207965;21982860;23418492 5673 E7EQY3;E9PC55;M0R1G9;Q15238 AA151017;ABBA01040855;AC005392;AMYH01009835;BC012607;BG621332;BG622527;CH471126;DA835167;L36606;L36607;M25384;M32628;M32629;M32630;M32631;M32632;M32633;M32634;M32635;M73713;NM_001130014;NM_002781;S49771;X63203 AAA21765;AAA21881;AAA36514;AAA60205;AAB24372;AAH12607;ACE86737;ACE87423;ADQ32330;CAA44885;EAW57171;EAW57172;EAW57173;NP_001123486;NP_002772;Q15238 Hs.654415 1651955;5017140;5091482;5106173;5120808 GDB:375170;RH69096;SHGC-36197;STS-T95748;WI-17469 FL-NCA-3;PSG OTTHUMP00000200178;OTTHUMP00000200179;OTTHUMP00000200180;OTTHUMP00000200181;PS-beta-G-5;PSBG-5;Pregnancy-specific beta-1-glycoprotein-5;fetal liver non-specific cross-reactive antigen 3;pregnancy-specific beta 1 glycoprotein;pregnancy-specific beta-1 glycoprotein;pregnancy-specific beta-1-glycoprotein 5;pregnancy-specific glycoprotein 5 APPROVED protein-coding ENSG00000204941 9522 08894 176394 VALIDATED 1345325 PSG6 pregnancy specific beta-1-glycoprotein 6 This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 19 19 19 q13.2 40206738 40222541 - 48098080 48113883 - 43406234 43422076 - 1580863;6480464 16344560;7851896;8006022;2271648;1690992;15489334;15057824;12477932;7851895;7794280;2783133;2537643;2377620;2346748 5675 B5MCE1;M0QXW0;M0QZA7;M0R314;Q00889 ABBA01040855;AC005260;AI148792;AMYH01009834;BC020652;CH471126;DA833634;HC007246;M31125;M32621;M33666;NM_001031850;NM_002782;X17098 AAA36512;AAA60201;AAA60206;AAC25619;AAC25620;AAH20652;ABM84040;ABM87387;CAA34957;CBH19428;EAW57162;EAW57163;NP_001027020;NP_002773;Q00889 Hs.646353 1662658;1725813;5091482;5110847;5120810;5126518 D19S1094;G29201;G61993;GDB:375179;RH70030;STS-T95748 PSBG-10;PSBG-12;PSBG-6;PSG10;PSGGB OTTHUMP00000199200;OTTHUMP00000199201;OTTHUMP00000199202;PS-beta-G-10;PS-beta-G-12;PS-beta-G-6;PSBG-10;PSBG-12;PSBG-6;pregnancy specific beta-1-glycoprotein 6;pregnancy-specific beta-1-glycoprotein 10;pregnancy-specific beta-1-glycoprotein 12;pregnancy-specific beta-1-glycoprotein 6;pregnancy-specific glycoprotein 10;pregnancy-specific glycoprotein 12;pregnancy-specific glycoprotein 6 APPROVED protein-coding ENSG00000170848 9523 08895 176395 REVIEWED 1346220 PSG8 pregnancy specific beta-1-glycoprotein 8 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 19 q13.2 40057172 40070164 - 47950287 47961573 - 43256839 43269831 - 6480464 2302228;14702039;12477932;7851895;3263130;1672663;1572651 440533 E7ENH0;M0QYP3;Q9UQ74 ABBA01040855;AC004654;AK092458;AK300230;AL545004;AMYH01009834;BC137500;BC142628;BX114490;CH471126;CR749812;M22311;M22312;M30629;M74106;M74196;NM_001130167;NM_001130168;NM_182707 AAA60025;AAA60026;AAA60027;AAA67524;AAC15514;AAI37501;AAI42629;BAG61998;CAH18672;EAW57149;EAW57150;EAW57151;NP_001123639;NP_001123640;NP_874366;Q9UQ74 Hs.466843 2119730;2139244;5015480;5091482;5093194;5106569 A007E07;A009J14;G32576;RH46954;STS-M30629;STS-T95748 DKFZp781L10202;PSG1 C1 alternate;C2 alternate;C3 alternate;OTTHUMP00000199185;OTTHUMP00000199186;OTTHUMP00000199187;OTTHUMP00000199188;PS-beta-G-8;PSBG-8;pregnancy-specific beta-1 glycoprotein;pregnancy-specific beta-1-glycoprotein 8;pregnancy-specific glycoprotein 8 APPROVED protein-coding ENSG00000124467 9525 15939 176397 VALIDATED 6482614 PSMA2P1 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1 11 q14.2 87040398 87041092 - 100130923 ABBA01017311;AMYH01003854;AP000811;NG_021795 pseudo 43832 INFERRED 6482613 PSMA2P2 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2 8 q22.1 94952314 94955105 - 100131775 ABBA01037444;AC084346;AMYH01018884;NG_022397 pseudo 43833 INFERRED 6482917 PSMA2P3 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3 2 q33.1 203044266 203044708 + 11161814 79055 ABBA01062554;AC079354;AMYH01011406;NG_032680 PSMA2L proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3 pseudo 43834 INFERRED 1349601 PSG9 pregnancy specific beta-1-glycoprotein 9 The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009] 19 19 q13.2 48449275 48465522 - 43757435 43773682 - 1580863;6480464 7794280;1690992;1922019;2537311;16169070;15982419;15489334;15231748;15057824;12477932;7851895;7806221;2346748;2341148;2328001;2322584;1581354 5678 E7EW65;G3XAA7;H7C1I4;M0R0E4;M0R0U8;Q00887;Q15227 ABBA01040855;AC005392;AK300187;AK300229;AK313256;AMYH01009835;BC005925;BC020759;BX952516;CH471126;CR407605;HC007250;M34421;M34481;M38046;M38243;M58591;M94890;NM_002784;U04323;U04324;U04325;U08197;U25987;X17610 AAA18432;AAA52605;AAA60194;AAA60203;AAA63251;AAA63252;AAA74512;AAA75298;AAA78263;AAA78264;AAA78266;AAH05925;AAH20759;ABM82311;ABM85487;BAG36066;BAG61963;BAG61997;CAA35612;CAG28533;CBH19430;EAW57179;EAW57180;EAW57181;EAW57182;EAW57183;EAW57184;NP_002775;Q00887 Hs.502092 2178341 RH46955 PS34;PSBG-11;PSBG-9;PSG11;PSGII OTTHUMP00000200184;OTTHUMP00000200185;PS-beta-B;PS-beta-G-11;PS-beta-G-9;pregnancy specific beta-1-glycoprotein 11;pregnancy-specific beta-1 glycoprotein B;pregnancy-specific beta-1-glycoprotein 9 APPROVED protein-coding ENSG00000183668 9526 08897 176398 VALIDATED 1346695 PSMA3P proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene 14 14 14 q23.1 40695863 40696684 + 59715689 59716629 + 60646030 60646851 + 326617 ABBA01018278;AL163853;AMYH01005766;NG_002607 pseudo 20029 INFERRED 1350264 PSIP1 PC4 and SFRS1 interacting protein 1 9 9 p22.3 15454064 15500982 - 15464064 15511003 - 1580863;6480464 12091904;16291214;12228227;15479846;19229293;19132083;18799576;18708362;18598942;18247352;18036557;17804545;17669426;17451600;17397262;17267486;16959972;16793062;16735438;16439544;16403949;16344560;16337983;16311605;16083285;15855167;15797927;15749713;15725483;15501396;15501393;15475359;15371438;15308744;15302935;15163664;12796494;12477932;12407101;12181742;12126624;22615581;10856157;10721720;10623627;21681054;9885563;9822615;8889548;17158150;16987986;16959283;17137594;16403635;16075307;15875659;17172465;17083721;16314581;16260736;15895093;15788449;19759913;20678206;18029348;19244240;19715609;19801648;19855849;19864417;19889764;19934313;20331877;20367881;20382164;20631726;21270171;23097450;11512661;21623867;21110914;21510906;21182205;21784078;21329475;21676593;21900206;22019592;19531213;22327296;21987578;22275515;22317832;18781797;21454548;21915354;22113938;22751105;23000965;23226247;19471022;21139048;21693764;21890473;21906983;21907836;22103895;22276150;22773103;18850631;22647853;22615874;22939629;22479480;17258258;17298035;17304248;17320002;17328897;17488811;17639082;18092005;18174227;18264802;18369482;18480474;18691555;18789977;18801737;19014595;19015031;19020831;19020832;19049878;19081927;19119323;19232540;19389610;19401538;19565598;19609359;19609362;19750561;19836475;20016921;20018238;20133638;20171172;20406807;20473303;20538907;20712566;20719241;20850978;20974633;21152581;21156026;21222490;21409951;21506277;21763490;21771857;21778063;21875413;21994569;22190034;22278243;22291694;22334021;22421880;22437836;22535962;22733274;22762018;22808106;22872640;22928108;22748127 11168 O75475;Q8N4N4 ABBA01065277;ABBA01065278;AF063020;AF098482;AF098483;AF199339;AF432220;AL359998;AL441925;AL513423;AMYH01019247;AMYH01019248;BC013160;BC022971;BC033817;BC040032;BC044568;BC064135;BQ186453;BX649155;CH471071;DA117094;NM_001128217;NM_021144;NM_033222;U94319 AAB52589;AAC25167;AAC97945;AAC97946;AAF25870;AAF25871;AAH22971;AAH33817;AAH44568;AAH64135;AAL99926;EAW58675;EAW58676;EAW58677;EAW58678;EAW58679;NP_001121689;NP_066967;NP_150091;O75475 Hs.658434 1674614;1688366;1698196;2120262;2137159;2143796;2162617;2174218;2217858;5015861;7185938 D10S16;D9S1149;G27467;G35007;PSIP1_3542;RH102634;RH16596;RH92265;SHGC-64828;STS-R43279 DFS70;LEDGF;MGC74712;PAIP;PSIP2;p52;p75 CLL-associated antigen KW-7;DFS 70;OTTHUMP00000022753;OTTHUMP00000022754;OTTHUMP00000022755;OTTHUMP00000022756;PC4 and SFRS1-interacting protein;dense fine speckles 70 kDa protein;lens epithelium-derived growth factor;transcriptional coactivator p52/p75;transcriptional coactivator p75/p52 protein-coding ENSG00000164985 9527 04688 603620 VALIDATED 1345682 PSKH2 protein serine kinase H2 8 8 8 q21.3 83255051 83276199 - 87129807 87150967 - 87060691 87081851 - 1580863 15489334;12477932;12471243 85481 Q96QS6 ABBA01037356;AC023194;AMYH01018855;AY037806;BC126180;BC126182;BC144195;CH471060;NM_033126 AAI26181;AAI26183;AAK59985;ADR83152;EAW91630;NP_149117;Q96QS6 Hs.680136 OTTHUMP00000224484;PSK-H2;serine/threonine kinase PSKH2;serine/threonine-protein kinase H2 protein-coding ENSG00000147613 18997 15192 PROVISIONAL 1312210 PSKH1 protein serine kinase H1 16 16 16 q22.1 52435604 52472038 + 66484716 66521082 + 67927175 67963581 + 1580863;6480464 16344560;15489334;14644153;12477932;12466556;11087665;11058107;9889196;8268911;2948189;20686565 5681 P11801 ABBA01025464;ABBA01025465;ABBA01025466;ABBA01025467;AC040162;AJ272212;AK309272;AMYH01007754;BC021584;BC037560;BC062616;CH471092;DA429976;M14504;NM_006742 AAA36519;AAH62616;CAB91984;EAW83185;NP_006733;P11801 Hs.513683 2108407;2110345;2131189;2153431;2170436 CTRL_8289;D16S2961;PSKH1_8573;RH70891;SHGC-63628 OTTHUMP00000174853;PSK-H1;serine/threonine-protein kinase H1 protein-coding ENSG00000159792 9529 01511 177015 VALIDATED 1354450 PSMA6P1 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1 Y Y Y q11.221 2381153 2382135 + 13907750 13908928 + 15398441 15399423 + 12815422;9847074 64596 ABBA01065544;ABBA01065545;AC010877;NG_002321 1646321;1690804;5093774 A009W21;G32915;RH79927 PSMA6-LIKE;PSMA6P;PSMA6Y APPROVED pseudo 17460 INFERRED 5129002 PSMA6P2 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 2 X X X p22.2 16957936 16959122 + 12753151 12756277 + 12843929 12845115 + 729412 ABBA01071038;AC005859;AMYH01022091;NG_023174 2123740 RH12477 pseudo 39607 INFERRED 6480953 PSMA6P3 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 3 21 47491999 47492162 - 100874510 ABBA01074221;AMYH01012331;AP001472;NG_032329 pseudo 39608 INFERRED 5129012 PSMA6P4 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 4 13 13 13 q32.1 78975363 78976285 + 96925125 96926674 + 98127957 98128879 + 121906 ABBA01027162;AL442067;AMYH01005313;CH471085;NG_023173 EAX08976 1708148 SHGC-79320 pseudo 39609 INFERRED 732886 PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008] 7 7 p13 42922985 42938330 - 42956460 42971805 - 1580863;6480464;6907045 15225636;17353931;11285280;15029244;12791267;16777052;16344560;15592455;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12808466;12808465;12750511;12719574;12690205;12477932;12446740;12419264;12167863;10983987;10893419;10436176;9846577;9811770;9079628;8811196;8635518;8125298;7966316;7811265;7558012;2025653;1888762;11205743;12970355;12920286;12914693;12859895;12840737;12830140;12809610;21145461;10973495;17948026;18922472;17207965;16098527;16759355;14733938;16548883;19596235;12972570;10930447;22863883;19840444;16196087;20811636;22939629;17314511;12376572;18781797;19815544;21726808;21900206;21987572;17139257;20972266;21139048;21890473;21906983;21963094;15660529;15837734;17573772;18775730;20937868;20980621;22318606;9311996;19013454;16503656;17189198;19193609;21628590;21853274;22053931;22505724;23026050 5683 C9JCK5;F8WEG3;H7C3A7;H7C402;P25787;Q6MZI6 AACC02000040;ABBA01058178;AC010132;AK222976;AK290654;AMYH01017204;AU120930;BC002900;BC047697;BX641097;CB990982;CH236951;CH471073;CR450317;D00760;D10758;HB870625;HC928034;NM_002787 AAH02900;AAH47697;ADQ33065;BAA00657;BAD96696;BAF83343;CAE46046;CAG29313;CBF59431;CBU84675;EAL24005;EAW94151;EAW94152;EAW94153;NP_002778;P25787 Hs.333786 1674591;1774350;2175261;5015619;5037552 D11S3114;D8S2279;RH17359;RH36115;RH36520 HC3;MU;PMSA2;PSC2 OTTHUMP00000159096;OTTHUMP00000207364;OTTHUMP00000207366;OTTHUMP00000238414;macropain subunit C3;multicatalytic endopeptidase complex subunit C3;proteasome (prosome, macropain) subunit, alpha type 2;proteasome component C3;proteasome subunit HC3;proteasome subunit alpha type-2 APPROVED protein-coding ENSG00000106588 9531 08907 176842 REVIEWED 1353003 PSMA7P proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene 9 9 9 q22.32 68856743 68857148 - 97454864 97455469 - 98415142 98415547 - 158441 ABBA01043610;AL354861;AMYH01021537;NG_002333 pseudo 20631 INFERRED 733996 PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009] 11 11 p15.1 14482998 14621739 - 14526422 14665180 - 6480464;6907045 14527406;7681138;15225636;16713569;16344560;16189514;15489334;14550573;14528300;12477932;12419264;11205743;10983987;10799514;10068451;9497851;9464850;9451443;9079628;8811196;7811265;2025653;1888762;1660345;1517242;1398136;14614829;14564014;14557625;14528301;17948026;18922472;21145461;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12167863;9811770;10893419;16169070;17353931;9846577;12150907;14733938;17292860;19596235;22863883;21832049;22939629;21703233;16196087;21733848;17314511;18029348;17573772;19349280;9311996;21139048;21890473;21906983;12376572;17623298;21987572;22079093;15831487;17506986;19013454;18654987;16503656;19193609;21628590;8206875;23393163;17203973;21853274;22053931;22505724;15887188;19060904;21565611;21963094;21988832;22190034;22623428;23000965;23438482;23535033 5682 B4DEV8;B4E0X6;F5GX11;F5H112;P25786 ABBA01061103;ABBA01061104;ABBA01061105;AC018523;AC087207;AK290765;AK303565;AMYH01003402;AMYH01003403;AW015660;BC002577;BC005932;BC008472;BC009576;BC015105;BC015356;BC022372;BT006647;CH471064;D00759;DA549688;HB870585;HC927994;M64992;NM_001143937;NM_002786;NM_148976;X61969 AAA92734;AAH02577;AAH05932;AAH08472;AAH09576;AAH15105;AAH15356;AAH22372;AAP35293;ABM85586;BAA00656;BAF83454;BAG64588;CAA43961;CBF59411;CBU84655;EAW68476;EAW68477;EAW68478;EAW68479;NP_001137409;NP_002777;NP_683877;P25786 Hs.102798 1657680;1666278;1683944;1701420;1857125;2146071;2153111;2169717;2183271 A008V15;D11S4431;D11S4651;G19402;PSMA1;RH104341;RH38736;RH69446;SHGC-58344 HC2;MGC14542;MGC14575;MGC14751;MGC1667;MGC21459;MGC22853;MGC23915;NU;PROS30 30 kDa prosomal protein;OTTHUMP00000231103;OTTHUMP00000237994;OTTHUMP00000237995;OTTHUMP00000237996;PROS-30;macropain subunit C2;macropain subunit nu;multicatalytic endopeptidase complex subunit C2;proteasome (prosome, macropain) subunit, alpha type 1;proteasome component C2;proteasome nu chain;proteasome subunit alpha type-1;proteasome subunit nu;proteasome subunit, alpha-type, 1;protein P30-33K APPROVED protein-coding ENSG00000129084 9530 04170 602854 REVIEWED 732188 PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 14 14 q23 57781346 57808479 + 58711523 58738727 + 1580863;6480464;6907045 14667819;15225636;15231747;16169070;11285280;15029244;12791267;16130169;18029348;18971267;17081983;16964243;16713569;15831937;15592455;15489334;15302935;14702039;14674694;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12379479;12376572;12167863;11350925;11341940;11205743;11146632;10893419;9846577;9811770;9451443;9079628;8811196;8619999;7857283;7811265;2025653;17353931;10671488;11146634;17948026;18922472;21145461;20098747;12826010;14733938;18276110;19208651;19412159;19596235;21135093;8889548;22863883;22939629;16196087;17314511;21108816;21900206;22079093;21320693;21139048;21890473;21906983;21963094;18781797;21987572;16390870;19013454;15837734;16207813;17573772;9311996;16503656;17189198;19193609;20086099;20308078;21628590;18313384;11139393;21853274;22505724 5684 G3V3W4;G3V4X5;G3V5N4;H0YJ03;P25788 ABBA01018254;ABBA01018255;ABBA01018256;AK315158;AL132989;AMYH01005758;BC005265;BC029402;BC038990;BG703488;BT006711;BT019715;CF128376;CH471061;CR456933;D00762;DB520127;NM_002788;NM_152132;NR_038123 AAH05265;AAH29402;AAH38990;AAP35357;AAV38520;ABM83571;ABM86809;BAA00659;BAG37603;CAG33214;EAW80715;EAW80716;EAW80717;EAW80718;EAW80719;EAW80720;EAW80721;EAW80722;NP_002779;NP_687033;P25788 Hs.558799 1651400;1794172;1855151;1855153;1856607;2143099;2160216;5120958 PMC310823P11;RH17928;RH69274;RH78140;SHGC-30923;SHGC-32634;SHGC-34645;SHGC-64015 HC8;MGC12306;MGC32631;PSC3 OTTHUMP00000179019;OTTHUMP00000245040;OTTHUMP00000245108;macropain subunit C8;multicatalytic endopeptidase complex subunit C8;proteasome (prosome, macropain) subunit, alpha type 3;proteasome component C8;proteasome subunit C8;proteasome subunit alpha type-3 APPROVED protein-coding ENSG00000100567 9532 01463 176843 REVIEWED 735266 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q25.1 76619802 76628617 + 78832747 78841562 + 1580863;6480464;6907045 15225636;11285280;15029244;12791267;18780872;18385738;18385676;16964243;15987638;15489334;15146197;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11205743;10893419;9846577;9811770;9079628;8811196;8687380;8619999;8175701;7821789;7811265;2025653;15782160;15303969;16423992;17948026;18922472;21145461;20554942;20587604;14733938;19596235;19615732;19851296;20198315;16714300;16759355;22801492;22863883;22939629;22491018;16196087;17314511;17558393;19471022;12376572;18781797;20972266;21139048;21890473;21906983;21963094;21987572;16503656;17189198;19193609;21628590;16222312;19013454;16678104;17573772;20530491;22318606;8692272;9311996;9875328;17203973;11745344;21853274;22053931;22505724;22797925;15887188 5685 H0YKS0;H0YKT8;H0YL69;H0YLC2;H0YLS6;H0YMA1;H0YMI6;H0YMV3;H0YMZ1;H0YN18;P25789;Q7Z474 ABBA01060588;AC027228;AK055714;AK315526;AL110100;AMYH01006835;BC001490;BC005361;BC022445;BC022817;BC030529;BC047667;BC056249;BC093069;BG528289;BG616186;BT009784;BU930105;CD365826;CH471136;CN337296;D00763;D28362;HB870627;HC928036;NM_001102667;NM_001102668;NM_002789 AAH05361;AAH22445;AAH22817;AAH47667;AAH56249;AAH93069;AAP88786;ABM83465;ABM86676;BAA00660;BAA05728;BAG37907;CBF59432;CBU84676;EAW99163;EAW99164;EAW99165;NP_001096137;NP_001096138;NP_002780;P25789 Hs.251531 1725587;2126000;2168128;5095346;5095348 D15S636E;G62016;PSMA4,_C.1-97G>T;PSMA4,_C.720C>T;WI-9202 HC9;HsT17706;MGC111191;MGC12467;MGC24813;PSC9 OTTHUMP00000185020;macropain subunit C9;multicatalytic endopeptidase complex subunit C9;proteasome (prosome, macropain) subunit, alpha type 4;proteasome component C9;proteasome subunit HC9;proteasome subunit L;proteasome subunit alpha type-4 APPROVED protein-coding ENSG00000041357 9533 10168 176846 VALIDATED 2291820 PSMB11 proteasome (prosome, macropain) subunit, beta type, 11 Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 3374068 3375961 + 22581216 22583109 + 23511376 23513269 + 6480464;6907045 19289856;17540904;14702039;11285280;12791267;21836487;21941364 122706 A5LHX3;B3KVC3 AB299437;ABBA01061304;AK122797;AL132780;AMYH01005602;NM_001099780 A5LHX3;BAF63540;BAG53735;NP_001093250 Hs.508918 BETA5T;FLJ16369 OTTHUMP00000243391;proteasome subunit beta 5T;proteasome subunit beta type-11;proteasome subunit beta-5t APPROVED protein-coding ENSG00000222028 31963 611137 VALIDATED 736338 PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Jul 2008] 14 14 q13 34831325 34856431 + 35761574 35786680 + 6480464;6907045;7240710 11917093;14743216;9096325;15225636;16169070;11285280;15029244;12791267;18029348;1888762;19336475;19282875;19272601;19182073;19056482;18358479;18231128;18158110;18157711;17555133;17535269;17384448;16845397;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;7681138;12167863;11924531;11771738;11205743;10983987;10893419;9846577;9811770;9497851;9451443;9079628;9056411;8811196;8618844;7821789;7811265;17353931;17948026;18922472;21145461;21319273;19913121;20628086;16759355;14733938;19526842;19596235;19615732;19624571;20408869;20953189;22863883;22990118;19941857;22939629;16196087;17558393;16045761;17573772;18775730;21420386;22158041;9311996;12376572;12938929;18781797;21139048;21890473;21906983;21963094;21987572;22072791;22310064;15936278;16503656;16707496;17189198;19193609;19535905;20682791;19013454;19781552;23111455;15887188;17370265;19738201;21565611;22623428;23000965;23026512;23438482;22882272;23455922;21853274;22053931;22505724;22944692;23022198 5687 B4DQR4;B4DXJ9;G3V295;G3V2S7;G3V3I1;G3V3U4;G3V4S5;G3V5Z7;H0YJC4;P60900 ABBA01061502;AF332577;AK298920;AK302008;AK313011;AK316223;AL121594;AL133163;AMYH01005666;BC002979;BC017882;BC022354;BC023659;BC070137;BG701535;CH471078;CR456944;D28434;NG_011703;NM_002791;X59417;X61972 AAG61139;AAH02979;AAH17882;AAH22354;AAH23659;AAH70137;ABM83272;ABM86477;BAA05800;BAG35846;BAG61026;BAG63411;BAH14594;CAA42052;CAA43964;CAG33225;EAW65876;EAW65877;NP_002782;P60900 Hs.446260 1690804;1852674 G36278;RH79927 IOTA;MGC22756;MGC2333;MGC23846;PROS27;p27K 27 kDa prosomal protein;OTTHUMP00000178843;OTTHUMP00000244914;OTTHUMP00000244915;OTTHUMP00000244917;OTTHUMP00000244918;OTTHUMP00000245013;PROS-27;macropain iota chain;macropain subunit iota;multicatalytic endopeptidase complex iota chain;prosomal P27K protein;proteasome (prosome, macropain) subunit, alpha type 6;proteasome iota chain;proteasome subunit alpha type-6;proteasome subunit iota APPROVED protein-coding ENSG00000100902 9535 04171 602855;608446 REVIEWED 734293 PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 p13 109745995 109770560 - 109941653 109969108 - 1580863;6480464;6907045 16251969;11285280;15029244;12791267;16964243;16710414;15489334;15302935;15225636;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11771738;11205743;10893419;10363657;9846577;9811770;9530635;9079628;8811196;8125298;7811265;1888762;1286667;14499622;18922472;21145461;21319273;9092538;11877445;16583711;19596235;14702039;16341674;20383146;21832049;22939629;22863883;16196087;17314511;17558393;18029348;19941857;20160352;10527805;17573772;22318606;9311996;9464850;19471022;12376572;18781797;20639865;21081666;21139048;21726808;21890473;21900206;21906983;21963094;21987572;19013454;16503656;17189198;19193609;21628590;21853274;22505724 5686 P28066 ABBA01068377;AK124307;AK225990;AK304448;AK313351;AL356735;AL390252;AMYH01000930;BC018605;BC102018;BC102019;BC102020;BC103751;BG743267;BI825400;BM793388;BT019717;CH471122;CR456847;DC320780;DC324021;DC324498;H08369;NM_001199772;NM_001199773;NM_001199774;NM_002790;X61970 AAI02019;AAI02020;AAI02021;AAI03752;AAV38522;BAG36153;BAG65266;CAA43962;CAG33128;EAW56381;EAW56382;EAW56383;NP_001186701;NP_001186702;NP_001186703;NP_002781;P28066 Hs.485246 1682838;1706792;1717641;1735978;1771281;2134958;2150466;2164449;5019743 A009N30;D1S1985E;G32685;RH122125;RH64702;SHGC-75262;SHGC-75266;SHGC-80868;WI-14018 FLJ42315;MGC117302;MGC125802;MGC125803;MGC125804;PSC5;ZETA OTTHUMP00000013792;macropain subunit zeta;macropain zeta chain;multicatalytic endopeptidase complex zeta chain;proteasome (prosome, macropain) subunit, alpha type 5;proteasome alpha 5 subunit;proteasome component 5;proteasome subunit alpha type-5;proteasome subunit zeta;proteasome zeta chain APPROVED protein-coding ENSG00000143106 9534 01464 176844 REVIEWED 1353264 PSMB3P proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 12 12 12 q13.2 55700796 55701496 - 54334506 54335286 - 56048318 56049018 - 121131 ABBA01008383;AC009779;AMYH01004492;NG_001533 1651913;1740787 D11S4358;STS-W44512 pseudo 20633 INFERRED 1626564 PSMB3P2 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2 2 2 2 q35 211242864 211243630 - 217183210 217184027 - 217474994 217475760 - 9847074 130700 ABBA01062820;AC073321;AMYH01011490;NG_001538 pseudo 30150 INFERRED 1349882 PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8 18 18 18 q11.2 20528304 20584262 + 21967814 22027317 + 23713816 23773319 + 1580863;6480464;6907045 16177791;15489334;12477932;12376572;17948026;11285280;12791267;22939629;19941857;22659184;21906983;22505724 143471 F5GY34;Q8TAA3 ABBA01022583;ABBA01022584;AC016839;AC091021;AMYH01008900;BC021713;BC025389;BC025393;BC028371;BC028686;BC042820;BC047355;CH471088;EF445014;HB870715;HC928124;NM_001025096;NM_001025097;NM_144662 AAH21713;AAH28371;AAH28686;AAH42820;ACA06053;CBF59476;CBU84720;EAX01214;EAX01215;EAX01216;NP_001020267;NP_001020268;NP_653263;Q8TAA3 Hs.464813 1685271;1707690;1792108;1792370;1793876;1794924;1795044 PMC137126P1;PMC149466P9;PMC303366P3;PMC85091P1;PMC89807P1;RH70434;SHGC-82018 MGC26605;PSMA7L proteasome subunit alpha type-7-like protein-coding ENSG00000154611 22985 11322 VALIDATED 737158 PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012] 20 20 q13.33 60145186 60151869 - 60711783 60718514 - 1580863;6480464;6907045 14702039;19442227;22584585;8889548;15029244;12791267;18202793;17353931;16678104;15987638;15635413;15489334;14759258;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11780052;11713272;11389899;11361004;11262608;11205743;11042152;10893419;10748218;10436176;9846577;9811770;9079628;8811196;8764072;7857283;7811265;15225636;11285280;21256111;17948026;18922472;21145461;16759355;20029029;14733938;16251969;19062718;19362550;19596235;14998988;10930447;22863883;22990118;21832049;22939629;20811636;16196087;17314511;17558393;16337594;17499743;17506986;17573772;18775730;19734229;22318606;9311996;9464850;21139048;12938929;21890473;21906983;21963094;12376572;18781797;19815544;20479273;20542005;21900206;21987572;18313384;15221960;17646385;17699672;19013454;16009940;16503656;17189198;19193609;21628590;17203973;19416853;21853274;22053931;22505724 5688 H0Y586;O14818 ABBA01040106;AF022815;AF054185;AK127210;AK312025;AL078633;AMYH01012044;BC001895;BC004427;BC014999;BG575009;BI258951;BI906714;BT007165;BU632089;BU687782;CH471077;HB870813;HC928222;HY039591;NM_002792 AAB81515;AAC99402;AAH04427;AAH14999;AAP35829;ABM84680;ABM92206;BAG34962;CBF59525;CBU84769;EAW75398;EAW75399;EAW75400;NP_002783;O14818 Hs.233952 5015861;5113202;7185938 D10S16;RH11614 C6;HSPC;MGC3755;RC6-1;XAPC7 OTTHUMP00000031449;OTTHUMP00000031450;OTTHUMP00000031453;proteasome (prosome, macropain) subunit, alpha type 7;proteasome subunit RC6-1;proteasome subunit XAPC7;proteasome subunit alpha 4;proteasome subunit alpha type-7 APPROVED protein-coding ENSG00000101182 9536 05967 606607 REVIEWED 733154 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008] 6 6 q27 170686134 170704312 - 170844204 170862417 - 1580863;6480464;6907045 15231747;17353931;11285280;15029244;12791267;15848047;15489334;15342556;14702039;14574404;14550573;12525704;12477932;12419264;11205743;10893419;9079628;8811196;8125298;7966316;7811265;7558012;2306472;2025653;14614829;14564014;14557625;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12167863;9846577;9811770;14499622;17948026;18922472;18029348;14732874;14733938;19596235;20558726;22863883;22939629;23275444;19549367;16196087;17314511;19193609;21628590;12376572;12938929;18781797;19815544;21139048;21726808;21890473;21906983;21963094;21987572;19013454;21980299;10527805;17506986;17573772;18775730;20530491;21135093;9311996;21853274;22053931;22505724 5689 P20618 AB209078;AB451312;AB451442;ABBA01030857;AK023290;AK058050;AK223193;AL008628;AL031259;AMYH01016888;BC000508;BC020807;BP369175;BQ685374;BT019720;CH471051;D00761;D14668;NM_002793 AAH00508;AAH20807;AAV38525;ABW03473;ABW03780;BAA00658;BAD92315;BAD96913;BAG70126;BAG70256;EAW47420;EAW47421;EAW47422;EAW47423;NP_002784;P20618 Hs.352768 1683064;1695770;1855780;5014051;5037552;5124996 D8S2278;D8S2279;RH17360;RH79599;RH93445;SHGC-82534 FLJ25321;HC5;KIAA1838;PMSB1;PSC5 OTTHUMP00000017708;macropain subunit C5;multicatalytic endopeptidase complex subunit C5;proteasome (prosome, macropain) subunit, beta type 1;proteasome beta 1 subunit;proteasome component C5;proteasome gamma chain;proteasome subunit HC5;proteasome subunit beta type-1 APPROVED protein-coding ENSG00000008018 9537 03603 602017 REVIEWED 1316619 PSMB10 proteasome (prosome, macropain) subunit, beta type, 10 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008] 16 16 q22.1 66525908 66528254 - 67968407 67970780 - 1580863;6480464;6907045 11285280;8666937;15029244;12791267;17541830;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12519221;12477932;12419264;12417987;12167863;10893419;10329130;9846577;9551082;9079628;8811196;8268911;8125298;9811770;15356131;17948026;19913121;20628086;16169070;18694960;16341674;15342556;8889548;22939629;23018640;21900206;22018786;21139048;21890473;21906983;22412388;17506986;20937868;19193609;11745344;19403671;22505724 5699 J3QQN1;P40306 ABBA01025467;AC040162;AK225658;AK298012;AK312208;AMYH01007754;BC017198;BC052369;BM845639;BM981173;BP289065;BT019723;BT019724;CH471092;CR456982;HI580885;NM_002801;X71874;Y13640 AAH17198;AAH52369;AAV38528;AAV38529;BAG35141;BAG60316;CAA50709;CAA73982;CAG33263;CBX46811;EAW83187;NP_002792;P40306 Hs.9661 1674557;5016729;5124279 RH65000;RH79694;WI-20243 FLJ00366;LMP10;MECL1;MGC1665;beta2i OTTHUMP00000174858;low molecular mass protein 10;macropain subunit MECl-1;multicatalytic endopeptidase complex subunit MECl-1;proteasome MECl-1;proteasome catalytic subunit 2i;proteasome subunit MECL1;proteasome subunit beta 7i;proteasome subunit beta type-10;proteasome subunit beta-2i APPROVED protein-coding ENSG00000205220 9538 01465 176847 REVIEWED 734194 PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Pseudogenes have been identified on chromosomes 2 and 12. [provided by RefSeq, Jul 2008] 17 17 q12 34162528 34174004 + 36909002 36920478 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11205743;10893419;9846577;9811770;9344661;9079628;8811196;7918633;7811265;1286667;17948026;18922472;21145461;14733938;19596235;19615732;22863883;22939629;16196087;17314511;20000738;17506986;17573772;12376572;19815544;20972266;21139048;21890473;21906983;21987572;19013454;17189198;19193609;21853274;22505724 5691 J3KRR2;J3KSM3;J3QKR3;P49720 ABBA01031901;ABBA01031902;AC006449;AMYH01008367;BC013008;CH471152;D26598;NM_002795 AAH13008;BAA05645;EAW60531;NP_002786;P49720 Hs.82793 1338202;1651913;1740787 D11S4358;D17S1851;STS-W44512 HC10-II;MGC4147 OTTHUMP00000164161;proteasome (prosome, macropain) subunit, beta type 3;proteasome chain 13;proteasome component C10-II;proteasome subunit beta type-3;proteasome theta chain APPROVED protein-coding ENSG00000108294 9540 03709 602176 REVIEWED 732759 PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 p34.2 35841326 35879730 - 36065142 36107445 - 1580863;6480464;6907045 11285280;15029244;12791267;16710414;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12456675;12419264;12167863;11205743;10893419;10436176;9846577;9811770;9344661;9079628;8811196;7918633;7811265;1602151;1286667;19013454;17948026;18922472;14733938;19596235;8889548;16341674;22863883;22939629;16196087;21660142;18029348;17506986;17573772;12376572;18781797;21139048;21890473;21906983;21963094;21987572;19471022;17189198;19193609;21853274;22505724 5690 B7Z478;P49721 AB209470;ABBA01023336;ABBA01023337;AI025755;AK296956;AK310023;AL157951;AL354864;AL357035;AMYH01000491;AV762678;BC000268;BC101836;BC105126;BC107901;BM664618;BM849239;BT007137;CH471059;CR456862;D26599;NM_001199779;NM_001199780;NM_002794 AAI01837;AAI05127;AAI07902;AAP35801;ABM84465;ABM87798;BAA05646;BAD92707;BAH12464;CAG33143;EAX07406;EAX07407;EAX07408;NP_001186708;NP_001186709;NP_002785;P49721 Hs.471441 1648113;1732529;2124883;2161275;5014063;5015619;5020948;5022450;5037552;5109281 D10S275;D11S3114;D15S1390;D1S1425;D6S939;D8S2279;G35510;SHGC-35307;SHGC-74572;SHGC-74576 HC7-I;MGC104215;MGC126885 OTTHUMP00000004345;macropain subunit C7-I;multicatalytic endopeptidase complex subunit C7-1;multicatalytic endopeptidase complex subunit C7-I;proteasome (prosome, macropain) subunit, beta type 2;proteasome beta 2 subunit;proteasome component C7-I;proteasome subunit beta type-2;proteasome subunit, beta type, 2 APPROVED protein-coding 9539 03708 602175 REVIEWED 1344491 PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008] 1 1 q21 149638665 149641036 + 151372041 151374412 + 1580863;6480464;6907045 11571290;11285280;15029244;12791267;18029348;16130169;18504423;15592455;15489334;15231748;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;12097147;11205743;10893419;10436176;9846577;9811770;9344661;9079628;8811196;8013624;7918633;7811265;2306472;1286667;9344905;17948026;18922472;21145461;9636170;20810900;11438941;19596235;19851296;20198315;20379614;21832049;22939629;22863883;16196087;17314511;20000738;15660529;18775730;9311996;12376572;20639865;21139048;21726808;21890473;21906983;21987572;21320693;19013454;16707496;17189198;19193609;16027165;21853274;22053931;22505724;23026050 5692 P28070 ABBA01049394;AK294149;AK313825;AL589764;AMYH01001387;BC000331;BC008314;BC010088;BC010098;BC011768;BC012168;BC017307;BC017451;BC017486;BT006917;CH471121;CR456820;D26600;NM_002796;S71381 AAB31085;AAP35563;ABM81674;ABM82946;ABM86138;BAA05647;BAG36560;BAG57474;CAG33101;EAW53442;NP_002787;P28070 Hs.89545 1712242;1808916;1810378;1818620;1819820;1842608;1926296;1926298;1926300;1926302;1926304;1926306;1926308;1926310;1926312;1926314;1926316;1926318;1926320;1926322;1926324;1926326;1926328;1926330;1926332;1926334;2131921;2191045;2207718;2207720 ECD05441;ECD06181;ECD10374;ECD10980;ECD22511;G54029;MARC_13789-13790:1006804989:3;REN33974;REN33975;REN33976;REN33977;REN33978;REN33979;REN33980;REN33981;REN33982;REN33983;REN33984;REN33985;REN33986;REN33987;REN33988;REN33989;REN33990;REN33991;REN33992;REN33993;RH64651;stSG627163;stSG627164 HN3;HsN3;PROS-26;PROS26 26 kDa prosomal protein;OTTHUMP00000014463;hsBPROS26;macropain beta chain;multicatalytic endopeptidase complex beta chain;proteasome beta chain;proteasome chain 3;proteasome subunit HsN3;proteasome subunit beta type-4;proteasome subunit, beta type, 4 APPROVED protein-coding ENSG00000159377 9541 03710 602177 REVIEWED 1348724 PSMC1P1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 1 3 3 3 p14.1 68621070 68622627 + 68767426 68769183 + 68684836 68686393 + 151645 ABBA01030895;AC096922;AMYH01013260;NG_001556 PSMC1P;bcm3415 protease (prosome, macropain) 26s subunit, atpase, 1 pseudogene APPROVED pseudo 30147 INFERRED 5130617 PSMC1P10 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 10 2 2 2 p24.2 17446001 17447541 + 17429823 17431265 + 17566339 17567879 + 388925 ABBA01018510;AC092843;AMYH01010143;NG_021557 1784246 SHGC-156145 pseudo 39785 INFERRED 5130614 PSMC1P11 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 11 6 6 6 p25.1 5931256 5932789 + 4634097 4649173 + 4702676 4704209 + 442153 ABBA01022000;AL356747;AMYH01016044;NG_022341 2138952 D6S2167 pseudo 39786 INFERRED 5130601 PSMC1P12 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 12 1 1 1 p12 117387916 117389446 - 118958478 119035672 - 119156761 119158291 - 644094 ABBA01068507;AL139148;AL606843;AMYH01000975;NG_022737 1692752;1782848;2155482 AL009735;AL034140;SHGC-142377 pseudo 39787 INFERRED 5130571 PSMC1P13 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 13 13 13 51370028 51371543 - 70468008 70469523 - 100422305 ABBA01050310;AL353738;AMYH01005193;NG_024865 pseudo 39788 INFERRED 5130613 PSMC1P2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 2 7 7 p15.2 27489610 27495538 + 27501304 27502808 + 442291 AACC02000007;ABBA01056771;AC073150;AMYH01017133;CH236948;NG_008641 pseudo 39777 INFERRED 1349289 PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 17 17 p13 4646415 4648748 + 4699439 4701798 + 1580863;6480464;6907045 12750511;7820546;11285280;15029244;12791267;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12719574;12477932;12419264;12388758;12167863;11205743;10893419;9846577;9811770;9079628;8811196;8066462;7811265;2306472;1888762;16169070;14733938;19615732;17948026;18922472;21145461;21319273;23018640;21320693;22863883;22939629;16196087;21536885;9311996;12376572;18457437;21139048;21890473;21906983;21987572;19013454;22659184;19193609;21628590;11745344;22190034;22505724 5694 I3L3X7;P28072;Q6IAT9 ABBA01054775;AC109333;AC233723;AK311768;AMYH01008042;BC000835;BF671774;BM553399;BQ691763;BT009809;BU848746;CH471108;CR457065;D29012;NM_001270481;NM_002798;X61971 AAH00835;AAP88811;ABM82142;ABM85325;BAA06098;BAG34711;CAA43963;CAG33346;EAW90407;NP_001257410;NP_002789;P28072 Hs.77060 1725727;1736688;2170709 D17S1509E;G62058;STS-AA009788 DELTA;LMPY;MGC5169;Y OTTHUMP00000115982;PSY large multifunctional protease Y;macropain delta chain;multicatalytic endopeptidase complex delta chain;proteasome catalytic subunit 1;proteasome delta chain;proteasome subunit Y;proteasome subunit beta 6;proteasome subunit beta type-6;proteasome subunit delta APPROVED protein-coding ENSG00000142507 9543 02630 600307 REVIEWED 735704 PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009] 14 14 q11.2 22564900 22573949 - 23495060 23504429 - 1580863;6480464;6907045 15231747;17353931;11285280;15029244;12791267;19426847;18565852;18562081;18519783;18502982;17262013;15944226;15489334;15488952;14743216;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11205743;10893419;10692467;9846577;9811770;9382924;9079628;8811196;8753855;8125298;8066462;7864893;7820546;7811265;2306472;21289309;17948026;18922472;21145461;20555361;17207965;14733938;18711014;19596235;19615732;16196087;22863883;22939629;18303054;23018640;20811636;17314511;21081666;21920470;10816564;14612418;17506986;17573772;20980621;21628461;9311996;18781797;21978467;22118674;21139048;21890473;21906983;19013454;17189198;19193609;20007692;22781773;11745344;21853274;22505724;22523338 5693 G3V3K3;G8JLC2;H0YJM8;Q86T01 ABBA01061302;ABBA01061303;AK225888;AK300714;AK311895;AL132780;AMYH01005602;BC057840;BC107720;BT006777;BU539357;BU632351;BX248299;BX538001;CD048996;CH471078;NM_001130725;NM_001144932;NM_002797;S74378;X95586 AAB33092;AAH57840;AAI07721;AAP35423;ADQ33015;BAG34836;BAG62391;CAA64838;CAD62626;CAD97956;EAW66193;EAW66194;EAW66195;NP_001124197;NP_001138404;NP_002788;P28074 Hs.422990 1754371;1773947;2186031;2217860 HUM00D0F11;PSMB5_3419;SHGC-132389;WI-7398 LMPX;MB1;MGC104214;X OTTHUMP00000027926;OTTHUMP00000245990;OTTHUMP00000245993;PSX large multifunctional protease X;macropain epsilon chain;multicatalytic endopeptidase complex epsilon chain;proteasome (prosome, macropain) subunit, beta type 5;proteasome beta 5 subunit;proteasome catalytic subunit 3;proteasome chain 6;proteasome epsilon chain;proteasome subunit MB1;proteasome subunit X;proteasome subunit beta type-5;proteasome subunit, beta type, 5 APPROVED protein-coding ENSG00000100804 9542 02629 600306 REVIEWED 5130618 PSMC1P4 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 4 5 5 5 q11.2 52524563 52526162 - 55606634 55608268 - 55570903 55572500 - 345645 ABBA01015762;AC016638;AMYH01015096;CH471123;NG_022936 EAW54947 pseudo 39779 INFERRED 5130615 PSMC1P3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 3 7 7 7 q33 131137700 131139285 + 136049146 136050478 + 136398573 136400158 + 392100 AACC02000025;ABBA01001135;AC108510;AMYH01017963;CH236950;NG_009401 pseudo 39778 INFERRED 5130600 PSMC1P7 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 7 3 3 3 q26.1 159468858 159470389 - 162529406 162531007 - 161046519 161048050 - 646085 ABBA01058789;AC128652;AMYH01013616;NG_022226 1749895 SHGC-111622 pseudo 39782 INFERRED 5130616 PSMC1P8 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 8 12 12 12 p12.3 22679811 22681317 - 17427430 17428848 - 17536086 17537592 - 390297 ABBA01067917;AC048352;AMYH01004307;NG_021683 pseudo 39783 INFERRED 5130602 PSMC1P6 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 6 3 3 3 p11.2 88432316 88433870 - 87762141 87763459 - 87679261 87680815 - 643766 ABBA01004630;AC108749;AMYH01013324;NG_022211 pseudo 39781 INFERRED 5130445 PSMC1P9 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 9 12 12 12 p12.3 23991198 23992742 + 18736964 18738536 + 18845685 18847229 + 20308432;22118674 643668 ABBA01067924;AC087242;AMYH01004309;NG_021707 pseudo 39784 INFERRED 732115 PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012] 9 9 q34.11-q34.12 126155565 126217542 - 127115744 127177752 - 1580863;6480464;6907045 11285280;15029244;12791267;18768472;18549262;18462727;18378283;15592455;15489334;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11295498;11205743;10893419;10384092;9846577;9811770;16423992;17948026;18922472;9079628;8811196;8666937;8125298;7811265;14733938;16169070;19645816;20010949;20379614;20736409;23106098;22863883;22939629;16196087;12376572;21713324;17573772;9311996;21139048;21693764;21726808;21890473;21906983;21987572;22118674;17189198;19193609;11745344;21853274;22505724 5695 B4E0P1;E9KL30;Q5TBG5;Q99436 ABBA01043744;ABBA01043745;ABBA01043746;AJ420455;AK056654;AK098757;AK223007;AK223356;AK303460;AK308756;AK314302;AL137846;AMYH01021705;AMYH01021706;BC000509;BC008414;BC017116;BT007218;CH471090;CR456721;D38048;GU727627;NM_002799 AAH00509;AAH17116;AAP35882;ADU87629;BAA07238;BAD96727;BAD97076;BAG36956;BAG64503;CAG33002;EAW87582;EAW87583;NP_002790;Q99436 Hs.213470 1643979;1646603;1647935;1667033;1715281;1735872;1787074;2148112;2167111;2169709;2171053;2172202;2175049;2183865;2183867;2186693;2191815 A003A40;A006A17;Cda0vc07;D9S1698;D9S1989;D9S997E;G20648;MARC_8227-8228:996688432:1;RH11482;RH11599;RH119892;RH12239;RH70504;RH77983;SGC33089;SHGC-154753;WI-15624 Z OTTHUMP00000022798;macropain chain Z;multicatalytic endopeptidase complex chain Z;proteasome catalytic subunit 2;proteasome subunit Z;proteasome subunit alpha;proteasome subunit beta 7;proteasome subunit beta type-7 APPROVED protein-coding ENSG00000136930 9544 04940 604030 REVIEWED 1352639 PSMC3P proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene 9 9 9 p22.1 18953079 18954383 + 19016785 19018289 + 19026885 19028189 + 9048938 5703 ABBA01065223;AL356000;AMYH01019268;NG_002368 1678251 RH91482 pseudo 9550 INFERRED 731895 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008] 6 6 p21.3 32916472 32920690 - 32808494 32812712 - 1331525;1580863;6480464;6907045 15118671 15231747;11285280;15029244;12791267;19526842;19443843;19404951;19258923;19202550;19148137;19065646;19037255;18248301;17703412;17581627;17525827;17491658;17142736;16423992;16396320;16341674;16338279;16224524;15944226;15907481;15603870;15489334;15488952;14702039;14574404;14551602;14550573;12648225;12519221;12477932;12419264;12225333;12209365;11793848;11772516;11737038;11669176;11494532;11051286;10975991;10926487;10893419;10657252;10329130;9271825;9157092;9079628;8811196;8666937;8568858;8550087;8458375;8344725;7811265;7498531;1922342;1529427;1453454;1429565;15356131;10358150;14614829;14564014;14557625;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12167863;9846577;9811770;15303969;21953331;17948026;19913121;20628086;19619915;19851445;20153157;20331378;20470844;20503287;20525414;21129723;21399633;21362330;21529441;22863883;23018640;21804012;21852578;22939629;21881205;21303409;21139048;15887188;22037870;19193609;8206875;17506986;20937868;9311996;11745344;19403671;21853274;22505724;22925930 5696 B0UZC1;P28062;Q5JNW7 AA807046;ABBA01038132;AK300962;AL669918;AL671681;AL935043;AMYH01016239;AW242683;BC001114;BG547344;BG760674;BM547457;BM781620;BX088556;BX682530;BX927138;CH471081;CR541661;CR753889;CR762476;CT009502;NG_028165;NM_004159;NM_148919;U17496;U17497;U32862;U32863;X62598;X66401;X87344;Z14982 AAA56777;AAA56778;AAA80234;AAA80235;AAH01114;BAH13383;CAA44482;CAA47026;CAA60786;CAA60787;CAA78705;CAA78706;CAG46462;EAX03644;EAX03645;NP_004150;NP_683720;P28062 Hs.180062 1650655;1665671;1744595;1769403;1855746;2132926;2135216;2135218;2151965 D6S2042;D6S2125;GDB:545427;LMP7;RH46725;RH46789;RH69680;RH70734;RH70842 ALDD;D6S216;D6S216E;JMP;LMP7;MGC1491;NKJO;PSMB5i;RING10;beta5i OTTHUMP00000029420;OTTHUMP00000029421;OTTHUMP00000178621;large multifunctional peptidase 7;low molecular mass protein 7;low molecular weight protein 7;macropain subunit C13;multicatalytic endopeptidase complex subunit C13;protease component C13;proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7);proteasome catalytic subunit 3i;proteasome component C13;proteasome subunit Y2;proteasome subunit beta 5i;proteasome subunit beta type-8;proteasome subunit beta-5i;proteasome-related gene 7;proteosome (prosome, macropain) subunit, beta type 8;really interesting new gene 10 protein APPROVED protein-coding ENSG00000204264 9545 01515 177046;256040 REVIEWED 730859 PSMC3IP PSMC3 interacting protein This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011] 17 17 17 q21.2 37380262 37385646 - 37977859 37983380 - 40724328 40729849 - 6480464 7490091;10806355;19325002;18941885;16407260;14702039;12477932;11739747;9345291;21963259 29893 C5ILB7;K7EK12;K7ELD8;K7EQS1;K7ERB6;Q9P2W1 AB030304;ABBA01006420;AC067852;AF440240;AK126369;AMYH01008395;BC008792;BI115923;CH471152;DB494067;FJ952179;FJ952180;FJ952181;FJ952182;FJ952183;GQ851964;GQ851965;NG_031960;NM_001256014;NM_001256015;NM_001256016;NM_013290;NM_016556;NR_045669;NR_045670;NR_045671;U18921 AAH08792;AAL33609;ACR46654;ACR46655;ACR46656;ACR46657;ACR46658;ACX30903;ACX30904;BAA92872;EAW60846;EAW60847;EAW60848;EAW60849;EAW60850;NP_001242943;NP_001242944;NP_001242945;NP_037422;NP_057640;Q9P2W1 Hs.383019 1656606;1694514;1734484;1770051 D17S1440E;D17S1663;G43000;STS-U18014 GT198;HOP2;HUMGT198A;ODG3;TBPIP DBD-interacting;GT198 alternative;PSMC3-interacting protein;TBP-1 interacting protein;TBP-1-interacting protein;homologous-pairing protein 2 homolog;nuclear receptor coactivator GT198;proteasome 26S ATPase subunit 3-interacting protein;tat-binding protein 1-interacting protein APPROVED protein-coding ENSG00000131470 17928 16362 608665;614324 REVIEWED 737219 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010] 6 6 p21.3 32929916 32935606 + 32821938 32827628 + 1580863;6480464;6483350;6483349;6482263;6483362;6483495;6483462;6483441;6483446;6483332;6482249;6483444;1578358;6483364;6483439;6483440;6907045 17609424;22034108;17581627;14750179;9496154;15603870;11717249;20174631;19924240;19492245;22363101;14551602;14684867;12189117;11782352 11285280;15029244;12791267;19404951;19202550;18694960;18248301;17491658;17142736;16957778;16396320;16224524;16222703;15489334;15284441;14574404;14550573;12648225;12519221;12477932;12225333;12209365;11819535;11788900;11775239;11772516;11737038;10924276;10329130;9367687;9079628;9003765;8811196;8666937;8568858;7829535;7811265;1922385;1681432;1529427;1453454;1429565;16703666;15686587;16512786;14614829;14564014;14557625;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12167863;9846577;9811770;10893419;12419264;16423992;17948026;19913121;20628086;20300807;19148137;19526842;19833746;19851445;20153157;20470844;20525414;14733938;21399633;21529441;23018640;22261389;22939629;21303409;22041443;22659265;21139048;21890473;11602734;19193609;8206875;10816564;17506986;20937868;9311996;23568741;15887188;18985028;22705098;22993228;23266558;11139393;11745344;21853274;22505724;22925930;22944692;22287277 5698 A2ACQ9;A2ACR0;A2ACR1;B0V060;B0V0T2;B0V0T3;B4DZW2;P28065 ABBA01038132;AI310206;AK303118;AL669918;AL671681;AL935043;AMYH01016239;BC065513;BF513693;BI832878;BM998687;BX088556;BX641100;BX927138;CH471081;CR541656;CR753889;CR762476;CR933844;NM_002800;S75169;U01025;X62741;X66401;X87344;Z14977 AAC50154;AAC60646;AAH65513;BAG64224;CAA44603;CAA47024;CAA60784;CAA78700;CAG46457;EAX03653;EAX03654;NP_002791;P28065 Hs.654585 1744593;1791590;2146436 GDB:543001;LMP2;PMC115886P1 LMP2;MGC70470;PSMB6i;RING12;beta1i OTTHUMP00000029423;OTTHUMP00000178622;OTTHUMP00000178623;large multifunctional peptidase 2;low molecular mass protein 2;macropain chain 7;multicatalytic endopeptidase complex chain 7;proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2);proteasome catalytic subunit 1i;proteasome chain 7;proteasome subunit beta 6i;proteasome subunit beta type-9;proteasome subunit beta-1i;proteasome-related gene 2;proteosome (prosome, macropain) subunit, beta type 9;really interesting new gene 12 protein APPROVED protein-coding 9546 01514 177045 REVIEWED 1343106 PSMC6P1 proteasome 26S subunit, ATPase, 6 pseudogene 1 8 8 8 q12.1 52954075 52955610 - 57124694 57126429 - 56962240 56963775 - 15262430 266723 ABBA01041758;AC046176;AMYH01018734;NG_002379 1680477;1685387;1694790 G43615;RH68060;RH80771 PSMC6P APPROVED pseudo 20634 INFERRED 2291756 PSMC6P2 proteasome 26S subunit, ATPase, 6 pseudogene 2 12 12 12 q15 68531266 68532456 + 67153688 67154868 + 68867511 68868701 + 160410 ABBA01026559;AC008033;AMYH01004561;NG_001564 pseudo 30149 INFERRED 2293178 PSMC6P3 proteasome 26S subunit, ATPase, 6 pseudogene 3 5 5 5 p13.2 33859431 33861505 + 34006725 34008490 + 33970959 33973033 + 100128218 ABBA01066761;AC139783;AMYH01015008;NG_007662;NG_011691 1781094;7186223 D5S1430 pseudo 34012 INFERRED 734425 PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008] 14 14 q32.11 89792647 89808719 + 90722894 90738966 + 6480464;6907045 1429620;17353931;11285280;15029244;12791267;18029348;8811196;18701681;16189514;15489334;15358861;15144186;14743216;14702039;14614829;14578856;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11734547;11361004;10970867;10893419;10748218;10625621;9846577;9811770;9473509;9452483;9079628;8125298;6188845;18922472;21145461;20562859;15831487;17148452;19060904;19490896;19615732;20379614;20424172;16159877;22863883;16335966;16196087;21832049;22939629;15610744;15837734;16045761;17573772;18775730;19589775;20810900;21628461;22275368;12938929;16239144;17370265;18781797;19850743;20479273;20639865;20843792;21139048;21693764;21726808;21890473;21900206;21906983;21987572;22118674;19013454;22145905;19193609;19535905;19546213;20473970;17203973;21853274;22505724;22921402;22952844;19805454;21963094;22948515;23000965;23438482 5700 B4DR63;G3V4X1;P62191;Q53XL8 AB451311;AB451441;ABBA01030503;AF401213;AK124201;AK222668;AK299121;AK313325;AL161662;AL355074;AMYH01005944;BC000512;BC016368;BC018859;BC067741;BC073818;BT009826;CH471061;CR457044;L02426;NM_002802 AAA35484;AAH00512;AAH16368;AAH67741;AAH73818;AAP88828;ABM82629;ABM85807;BAD96388;BAG36130;BAG61175;BAG70125;BAG70255;CAG33325;EAW81419;EAW81420;EAW81421;NP_002793;P62191 Hs.356654 2153283;2173972;5093780 A009W30;G32920;SGC34848 MGC24583;MGC8541;P26S4;S4;p56 26S protease regulatory subunit 4;26S proteasome AAA-ATPase subunit RPT2;OTTHUMP00000244896;OTTHUMP00000244898;protease (prosome, macropain) 26s subunit, atpase 1;proteasome 26S ATPase subunit 1;proteasome 26S subunit ATPase 1;proteasome 26S subunit, ATPase, 1 APPROVED protein-coding ENSG00000100764 9547 04084 602706 REVIEWED 732077 PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008] 11 11 p11.2 47396896 47404600 - 47440320 47448024 - 1580863;6480464;6907045 17220478;17353931;8419915;2194290;11285280;15029244;12791267;8811196;19325002;17334400;16713569;15489334;15342556;15221960;14743216;14665636;14614829;14610662;14564014;14557625;14556007;9846577;9811770;9714759;9473509;9345291;9079628;9048938;8621709;8500623;8323548;8125298;16169070;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;14550573;12719574;12477932;12419264;12167863;11463857;10893419;10806355;10799514;10339605;15876874;18922472;17148452;17649721;18029348;19490896;19615732;19853614;16335966;22863883;22939629;16196087;17314511;17558393;19013454;21110914;21675959;22659184;16239144;18781797;20843792;21139048;21890473;21906983;21987572;22118674;19269966;19815544;20351748;20479273;21991300;22072791;22079093;19193609;19349277;19535905;20007692;20473970;11032911;15831487;16969126;17573772;17709345;20431057;20810900;21628461;21874050;22275368;22318606;22586326;9464850;1429620;21963094;21988832;23000965;23438482;23022100;11139393;12551928;15591046;21853274;22505724;22797925 5702 E9PKD5;E9PLG2;E9PM69;E9PMD8;E9PMW0;E9PN50;E9PS45;P17980;R4GNH3 ABBA01060713;ABBA01060714;AC090559;AK222485;AK291896;AK313518;AMYH01003542;BC008713;BC073165;BC106920;BC107804;BP284685;CH471064;CR456731;M34079;NM_002804 AAA36666;AAH08713;AAH73165;AAI06921;AAI07805;ABM83907;ABM87228;BAD96205;BAF84585;BAG36298;CAG33012;EAW67916;NP_002795;P17980 Hs.250758 1678251;1686160;2178018;5491623 MARC_26198-26199:1039556289:1;RH70251;RH91482;RH98825 MGC8487;TBP1 26S protease regulatory subunit 6A;26S proteasome AAA-ATPase subunit RPT5;OTTHUMP00000236492;OTTHUMP00000236493;OTTHUMP00000236494;TBP-1;Tat-binding protein 1;human immunodeficiency virus tat transactivator binding protein-1;proteasome (prosome, macropain) 26s subunit, atpase 3;proteasome 26S subunit ATPase 3;proteasome subunit P50 APPROVED protein-coding ENSG00000165916 9549 01733 186852 REVIEWED 1343089 PSMD10P1 proteasome 26S subunit, non-ATPase, 10 pseudogene 1 20 20 20 q13.13 46234512 46235392 + 48963575 48964443 + 49530252 49531132 + 170541 ABBA01052790;AL034553;AMYH01011977;NG_001050 PSMD10P;dJ914P20.4 pseudo 16602 INFERRED 2290507 PSMD10P2 proteasome 26S subunit, non-ATPase, 10 pseudogene 2 3 3 3 q27.3 184915359 184918072 + 187961494 187964406 + 186478900 186481614 + 21700879 280644 ABBA01058383;AC112907;AMYH01013736;NG_002417 1649990 A002Q09 pseudo 30151 INFERRED 2291755 PSMD10P3 proteasome 26S subunit, non-ATPase, 10 pseudogene 3 13 13 13 q21 54509003 54509463 + 72508422 72509086 + 73610523 73610983 + 338091 ABBA01050340;AL354720;AMYH01005201;NG_002627 pseudo 30152 INFERRED 732979 PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011] 7 7 q22.1-q22.3 102775325 102795892 + 102987971 103009842 + 1580863;6480464;6907045 12808465;12750511;12719574;12690205;12665801;12477932;12419264;12167863;11361004;11118327;11118325;10893419;10625621;10409732;9846577;9811770;9473509;9079628;8811196;8500623;7711076;1602151;1377363;11734547;16189514;16169070;9295362;17220478;17353931;11285280;15029244;12791267;16130169;16236267;15489334;15340068;15231748;14743216;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12970176;12920286;12914693;12859895;12853948;12840737;12830140;12809610;12808466;18922472;21145461;20562859;16341674;18029348;17148452;19412159;19490896;19615732;8889548;16335966;22939629;22863883;16196087;17314511;17558393;21733848;12938929;16239144;17623298;18457437;18781797;19815544;20351748;20542005;20639865;20843792;21139048;21726808;21767633;21890473;21906983;21963094;21987572;22118674;19193609;20682791;19013454;15610744;15831487;15953362;17573772;19589775;20178748;20810900;21628461;22078707;22275368;22586326;22623531;9464850;15782218;17203973;16712842;19380743;21853274;22053931;22505724;22797925;22921402;22952844 5701 B7Z571;B7Z5E2;C9JLS9;P35998 AB075520;ABBA01057987;ABBA01057988;AC004668;AC093701;AK298529;AK298821;AK312648;AMYH01017812;BC002589;BE269755;BM754312;BU675889;CH236947;CH471070;D11094;NM_001204453;NM_002803 AAH02589;AAS07429;ABZ92232;BAA01868;BAE45763;BAH12807;BAH12878;EAL24412;EAW83331;EAW83332;EAW83333;NP_001191382;NP_002794;P35998 Hs.437366 1337591;1775653;2147014;2176493;5124391;5126931 D7S2509;PSMC2;RH11504;RH69239;RH80487;SGC32632 MGC3004;MSS1;Nbla10058;S7 26S protease regulatory subunit 7;26S proteasome AAA-ATPase subunit RPT1;OTTHUMP00000211710;OTTHUMP00000211711;OTTHUMP00000211712;mammalian suppressor of sgv-1 of yeast;protease 26S subunit 7;proteasome (prosome, macropain) 26s subunit, atpase 2;proteasome 26S subunit ATPase 2;proteasome 26S subunit, ATPase, 2;putative protein product of Nbla10058 APPROVED protein-coding ENSG00000161057 9548 01105 154365 REVIEWED 731556 PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 q13.11-q13.13 45168913 45179193 + 40476912 40487671 + 1580863;6480464;6907045 9473509;17353931;11285280;15029244;12791267;8603043;18446261;17327361;16189514;15489334;15057824;14614829;14564014;14557625;14550573;14528301;14528300;14527406;22651796;21979464;11779854;11463857;11361004;11042152;10893419;9846577;9811770;9714759;9079628;8500623;8419915;8323548;8076819;8060531;2194290;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;18922472;21145461;22912744;15604093;15831487;18029348;19412159;19490896;19615732;15773819;20937828;20562859;16159877;23184937;16335966;22863883;22939629;16196087;17314511;21320693;12525503;20843792;21081666;21726808;21987572;22079093;22118674;19013454;19781552;21110914;12938929;21139048;21890473;21906983;19193609;20682791;22370480;15610744;17573772;17786314;20810900;21628461;22078707;22275368;17203973;21853274;22053931;22505724;22797925;22944692 5704 A8K2M0;P43686 ABBA01040737;ABBA01040738;AC007842;AF020736;AF038965;AK290285;AK310135;AK313183;AMYH01009794;BC000343;BC010396;BC014488;BC018811;BI828251;BT007232;CH471126;NM_006503;NM_153001;U27515 AAC26843;AAC32612;AAC99817;AAD39267;AAH00343;AAH10396;AAH14488;AAP35896;ABM82801;ABM85802;BAF82974;BAG36000;EAW56928;EAW56929;NP_006494;NP_694546;P43686 Hs.211594 1690398;2185020 RH98237;STS-T26522 MGC13687;MGC23214;MGC8570;MIP224;RPT3;S6;TBP-7;TBP7 26S protease regulatory subunit 6B;26S proteasome AAA-ATPase subunit RPT3;MB67 interacting protein;MB67-interacting protein;TBP-7;Tat-binding protein 7;protease 26S subunit 6;proteasome 26S subunit ATPase 4 APPROVED protein-coding ENSG00000013275 9551 04085 602707 REVIEWED 2291786 PSMD12P proteasome 26S subunit, non-ATPase, 12 pseudogene 3 3 3 p14 72859974 72861491 - 73008431 73010086 - 72925820 72927337 - 317753 ABBA01030955;AC114876;AMYH01013279;NG_002463 pseudo 30153 INFERRED 1318819 PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008] 14 14 q22.1 52243668 52264466 + 53173896 53194716 + 6480464;6907045 9464850;11590019;11285280;15029244;12791267;10419517;16501559;16341674;16189514;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12499840;12477932;12419264;12167863;15489334;10893419;10363644;9846577;9811770;9473509;9079628;8811196;8674546;8621709;17353931;20478047;18922472;21145461;21319273;11361004;11734547;15831487;17148452;19412159;19490896;19615732;22863883;16196087;16335966;22939629;17314511;16239144;18781797;19269966;19815544;20479273;20890303;21081666;21139048;21890473;21906983;21987572;22108332;22118674;21320693;15610744;17573772;22275368;19193609;20682791;21151955;18029348;15782218;17203973;22053931;22505724;22797925;22952844 5706 H0YJC0;H0YJD2;H0YJE9;H0YJS8;H0YJT1;H0YJW2;H0YJX2;H0YJY8;P62333 AA846884;ABBA01018168;ABBA01018169;AF006305;AK127456;AK299155;AK307087;AK313670;AL133453;AMYH01005731;BC005390;BM788029;BP384173;BT006843;CH471078;CQ840920;CR456709;D78275;NM_002806 AAB61616;AAH05390;AAP35489;ABM84630;BAA11338;BAG36422;BAG61203;CAG32990;CAH05701;EAW65645;NP_002797;P62333 Hs.156171 1650726;1674171;1680477;1685387;1694790;2154939;2181905 D14S1297;G35668;G35813;G43615;RH68060;RH80771;SHGC-59941 CADP44;MGC12520;P44;SUG2;p42 26S protease regulatory subunit 10B;26S protease regulatory subunit S10B;26S proteasome AAA-ATPase subunit RPT4;OTTHUMP00000179002;OTTHUMP00000245246;conserved ATPase domain protein 44;proteasome 26S subunit ATPase 6;proteasome subunit p42 APPROVED protein-coding 9553 04086 602708 REVIEWED 732741 PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 17 17 q23.3 59258542 59263119 + 61904770 61909387 + 6480464;6484676;6907045 19471584 9464850;7870181;11285280;16432160;15029244;12791267;9927201;19144644;18662994;18215421;17565987;17302910;16713569;16499872;16189514;15489334;14702340;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;12110588;11463857;10970867;10893419;10816420;10799514;10409732;9846577;9811770;9714759;9473509;9295362;9173976;9110174;9079628;9048938;8811196;8710853;8619474;8598193;8500623;8419915;8323548;7776974;7729537;2194290;18572193;11734547;11361004;12692129;17353931;10753654;12963825;14706819;15610744;15831487;16957778;17573772;19589775;20178748;20431057;20810900;21628461;22078707;22275368;22486777;22496558;22586326;9620878;9831079;18247557;18922472;21145461;21319273;20424172;19490896;20562859;15342556;16344560;15867431;16990800;17429597;18029348;19615732;19660582;22771340;22939629;12503607;12676955;16159877;22863883;22990118;18303054;10776788;23398456;23402259;23455922;23703321;23824326;23824909;15885686;17646385;19013454;19781552;1429620;21963094;21988832;23000965;23438482;12938929;16196087;16236267;16239144;17224908;17558393;17623298;18086887;18781797;19815544;20085538;20351748;20479273;20843792;21081666;21139048;21726808;21890473;21906983;21987572;22118674;16707496;19193609;19535905;20473970;17203973;18986984;21853274;22053931;22505724;22797925;23022198;23032291;8603043 5705 J3KRP2;J3KTQ9;J3QLH6;J3QQM1;J3QRR3;J3QRW1;J3QSA9;J3QSE0;P62195 ABBA01035319;AC015651;AF035309;AI193169;AK095836;AK098484;AK290758;AK291878;AMYH01008549;BC001932;BC002367;BC127888;BF245599;BP209525;CH471109;D44467;DA056321;L38810;NM_001199163;NM_002805 AAB88187;AAC41735;AAH01932;AAH02367;ABM83122;ABM86317;BAA07919;BAF83447;BAF84567;EAW94269;EAW94270;EAW94271;EAW94272;NP_001186092;NP_002796;P62195 Hs.79387 1739463;1773615;1791528;2135167;2135169;2189395 D17S1654;MARC_4113-4114:991938380:3;PMC113761P5;RH36133;RH36220;SGC30177 S8;SUG-1;SUG1;TBP10;TRIP1;p45;p45/SUG 26S protease regulatory subunit 8;26S proteasome AAA-ATPase subunit RPT6;MSUG1 protein;Tat-binding protein homolog 10;for proteasomal atpase (sug1);proteasome 26S ATPase subunit 5;proteasome 26S subunit ATPase 5;proteasome subunit p45;thyroid hormone receptor-interacting protein 1;thyroid receptor interactor 1 APPROVED protein-coding ENSG00000087191 9552 03400 601681 REVIEWED 734088 PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2010] 2 2 q37.1 231629853 231745717 + 231921578 232037541 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;8811196;8816993;18534977;16964243;16737963;16501559;16097034;15815621;15489334;15302935;15231748;14743216;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;10893419;10671488;9846577;9811770;9079628;18922472;21145461;19913121;20628086;20936779;16344560;8889549;11361004;16990800;17429597;19615732;20379614;21044959;22863883;23275444;22939629;16196087;19471022;12938929;16239144;18781797;20479273;20639865;21081666;21139048;21693764;21767633;21890473;21906983;21987572;22079093;22118674;15221960;19013454;19781552;22031102;15610744;15831487;16207813;17573772;18775730;19589775;22275368;22318606;22586326;9733766;19193609;20682791;21151955;17203973;16712842;22053931;22505724;22797925 5707 C9J9M4;F8WCE3;H7BZR6;H7C378;Q86VU1 AA169719;ABBA01002063;AC009407;AK307415;AK307513;AK312528;AMYH01011555;BC001053;BC007535;BC014013;BC020223;BC032445;BC039845;BC047897;BC064398;BC073833;BC094720;BC112344;BC114434;CH471063;D44466;DA385817;NM_001191037;NM_002807;NR_034059 AAH01053;AAH14013;AAH20223;AAH32445;AAH39845;AAH47897;AAH64398;AAH73833;AAH94720;AAI12345;AAI14435;AAX93127;BAA07918;BAG35427;EAW70947;EAW70948;NP_001177966;NP_002798;Q99460 Hs.3887 1648278;1648512;1696258;1734728;1734898;1796032;2117387;2119840;2138818;2139358;2145381;5018035 D2S1517E;D2S1525E;D2S1672E;HTR2B_345;PSMD1;RH36032;RH48937;RH68938;SGC31713;SHGC-12915;SHGC-83635;WI-11730 MGC133040;MGC133041;P112;Rpn2;S1 26S proteasome non-ATPase regulatory subunit 1;26S proteasome regulatory subunit RPN2;26S proteasome regulatory subunit S1;26S proteasome subunit p112;26s proteasome, subunit p112;OTTHUMP00000164295;OTTHUMP00000204737 APPROVED protein-coding ENSG00000173692 9554 10169 REVIEWED 2306587 PSMD2P1 proteasome 26S subunit, non-ATPase, 2 pseudogene 1 1 1 1 q43 213561039 213563919 - 238372353 238375398 - 240305810 240308690 - 266783 ABBA01033230;AL359918;AMYH01001875;NG_002387 1676400;1725711;1777222 G62053;RH65279;T03659 pseudo 30154 INFERRED 736379 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011] X X q22.3 107214093 107221504 - 107327435 107334874 - 1580863;6480464 11285280;12525503;17353931;15029244;12791267;18029348;8811196;9714768;19513507;19287195;19235584;18813787;18332869;18161051;18040287;17935131;17904523;17881001;15910504;15772651;15489334;15379554;15221469;14997555;14614829;14573599;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12174370;12167863;11779854;10893419;9846577;9811770;9079628;9009162;16189514;16023600;20371329;20483533;19901563;20628200;10613832;11900540;19412159;19490896;19615732;19729910;19736567;20479760;21287809;21254169;22939629;22913272;16196087;21868508;21691299;16239144;21139048;21890473;21906983;22118674;22230478;19349277;22387393;22863883;22913315;22053931;22797925 5716 B1AJY5;B1AJY6;B1AJY7;O75832 AB009619;ABBA01035973;AK058108;AK295996;AK309326;AL031177;AMYH01022835;AY057056;BC011960;BI114640;BQ217943;BT019689;CH471120;D83197;GM044604;NG_012521;NM_002814;NM_170750;R15438 AAH11960;AAL25260;AAV38495;ACT64478;ACT64479;BAA33215;BAA34594;BAG58771;CAV33747;EAX02697;EAX02698;NP_002805;NP_736606;O75832 Hs.522752 1643764;1649990;1796582 A002Q09;PSMD10_464;RH44542 dJ889N15.2;p28;p28(GANK) 26S proteasome non-ATPase regulatory subunit 10;26S proteasome regulatory subunit p28;OTTHUMP00000023827;OTTHUMP00000023828;OTTHUMP00000023830;OTTHUMP00000023831;OTTHUMP00000023832;ankyrin repeat protein;gankyrin;hepatocellular carcinoma-associated protein p28-II APPROVED protein-coding ENSG00000101843 9555 04594 REVIEWED 1348717 PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. [provided by RefSeq, Jul 2008] 17 17 q24.2 62767081 62793183 - 65336619 65362721 - 1580863;6480464;6907045 17353931;11285280;15029244;12791267;15489334;14743216;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;9426256;16501559;12808465;12750511;12719574;12665801;12477932;12419264;12167863;10893419;9846577;9811770;9079628;8811196;8125298;1317798;18922472;19615732;22863883;22939629;16196087;17558393;19013454;21110914;12783882;17573772;18775730;22318606;22586326;12938929;15840729;16239144;19815544;20890303;21139048;21693764;21726808;21890473;21906983;21987572;22118674;19193609;22797925 5718 J3KSK1;J3KTJ5;O00232 AB003103;ABBA01029000;ABBA01029001;AC110921;AK091198;AK222679;AK307821;AK308883;AMYH01008583;AMYH01008584;BC019062;BC065826;CH471099;NM_002816;NM_174871 AAH19062;AAH65826;ABM83747;ABM87066;BAA19749;BAD96399;BAG52303;EAW89026;EAW89027;EAW89028;EAW89029;NP_002807;NP_777360;O00232 Hs.592689 1669774;1673737;1766113;2140816;2160230;2160467;2174578;2181763;5092866 A009B18;D17S1531;G32380;RH11827;RH47845;RH78277;RH78404;SHGC-149497;SHGC-56750 MGC75406;Rpn5;p55 26S proteasome non-ATPase regulatory subunit 12;26S proteasome regulatory subunit RPN5;26S proteasome regulatory subunit p55;OTTHUMP00000179135;OTTHUMP00000179136 APPROVED protein-coding 9557 05120 604450 REVIEWED 1350425 PSMD4P1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1 21 21 21 q22.13 23056531 23058087 - 36779938 36781700 + 37858168 37859730 - 10830953 54035 ABBA01057398;AMYH01012226;AP000695;AP001726;NG_002723;NG_011777 PSMD15;PSMD4P APPROVED pseudo 9562 INFERRED 1315074 PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012] 17 17 q11.2 27795615 27832155 + 30771481 30810337 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;9119060;17081983;15489334;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;15342556;12477932;12419264;12185077;12167863;10893419;9846577;9811770;9426256;9079628;8811196;8125298;1317798;16169070;12719574;12665801;18922472;21319273;15231748;19596235;19615732;19616115;22863883;21832049;22939629;16196087;12426099;15610744;17573772;18775730;12938929;16239144;19815544;21081666;21139048;21890473;21906983;21987572;22118674;19013454;21110914;19471022;19193609;20473970;19380743;22190034;22797925;22952844;23022198;22972301 5717 J3KSW3;J3QRY4;J3QS13;O00231 AB003102;ABBA01000717;ABBA01000718;AC005899;AC079336;AF001212;AK093602;AK223196;AK290602;AK300342;AMYH01008336;BC000437;BC004430;BP246240;BQ006240;CH471147;NM_001270482;NM_002815 AAB58732;AAH00437;AAH04430;BAA19748;BAD96916;BAF83291;BAG62087;EAW80229;EAW80230;NP_001257411;NP_002806;O00231 Hs.443379 1675569;1686554;1693266;1701320;1726259;1789012;2120078;2170898;5022200 G42336;G42372;G65638;L18426;RH104290;RH15931;RH78801;RH80424;WI-16331 MGC3844;Rpn6;S9;p44.5 26S proteasome non-ATPase regulatory subunit 11;26S proteasome regulatory subunit 9;26S proteasome regulatory subunit RPN6;26S proteasome regulatory subunit S9;26S proteasome regulatory subunit p44.5;OTTHUMP00000163703 APPROVED protein-coding ENSG00000108671 9556 05119 604449 REVIEWED 1313146 PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 p15.5 226808 242984 + 236808 252984 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;8811196;9714768;17059877;16501559;15489334;14743216;14702039;14614829;14564014;14557625;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11042152;10893419;10393949;10225435;9846577;9811770;9079628;8125298;14550573;19615732;22863883;22939629;16196087;15610744;17573772;18775730;16239144;19815544;21139048;21890473;21906983;21987572;19013454;19193609;18922472;23106098;19380743;22505724;22797925;22139419 5719 E9PL38;E9PPD2;E9PQG3;F8W8J6;H0YD73;J3KNQ3;Q9UNM6 AA931044;AB009398;ABBA01011167;AC136475;AF083245;AF086708;AF107836;AF107837;AF261927;AK092845;AK094775;AK222895;AK295944;AK307447;AK314733;AL556906;AMYH01003275;BC001100;BC001747;BM456586;BT007307;BX647314;CH471278;NM_002817;NM_175932 AAC64104;AAD39843;AAD43441;AAD43442;AAH01100;AAH01747;AAP35971;ABM83097;ABM86291;BAA33214;BAD96615;BAG37274;BAG52927;BAG58728;CAI46009;EAW61234;EAW61235;EAW61236;EAW61237;EAW61238;NP_002808;NP_787128;Q9UNM6 Hs.134688 1733722;2111308;2173870;2217862;5015961 D11S2071;D11S576;D15S1477;PSMD13_2898;STS-T99644 HSPC027;Rpn9;S11;p40.5 26S proteasome non-ATPase regulatory subunit 13;26S proteasome regulatory subunit RPN9;26S proteasome regulatory subunit S11;26S proteasome regulatory subunit p40.5;26S proteasome subunit p40.5;OTTHUMP00000147614;OTTHUMP00000230665;OTTHUMP00000230666;OTTHUMP00000230668;OTTHUMP00000230669 APPROVED protein-coding ENSG00000185627 9558 04595 603481 VALIDATED 1315018 PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012] 2 2 q24.2 161873186 161976172 + 162164786 162268228 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;9374539;18029348;19214193;17237285;16569633;16344560;15592455;15489334;14737182;14702039;12477932;18922472;18162577;19412159;19419512;19615732;19732767;22863883;16196087;21733848;18775730;17573772;21963094;21988832;23000965;23438482;23455922;23751493;19013454;19781552;19815544;20656689;16239144;18781797;20058232;21726808;21987572;22118674;8889548;12938929;19471022;21139048;21906983;19193609;19349277;22909820;22939629;19380743;22053931;22505724 10213 C9JW37;O00487 AB209220;ABBA01004885;ABBA01004886;AC009299;AC009487;AK055128;AMYH01011212;AMYH01011213;BC009524;BC066336;BM978668;CH471058;DA133201;NM_005805;U86782 AAC51866;AAH09524;AAH66336;AAX88940;AAY15016;BAD92457;BAG51474;EAX11370;NP_005796;O00487 Hs.740477 1650478;1681054;1681853;1708774;1730373;2171417 Bda94c06;D2S197E;RH36560;RH65098;RH91306;SHGC-81625 PAD1;POH1;RPN11 26S proteasome non-ATPase regulatory subunit 14;26S proteasome regulatory subunit rpn11;26S proteasome-associated PAD1 homolog 1;OTTHUMP00000204560 APPROVED protein-coding ENSG00000115233 16889 06208 607173 REVIEWED 7246353 PSMD5-AS1 PSMD5 antisense RNA 1 (head to head) 9 q33.2 123605320 123616651 + 12477932;14702039 253039 ABBA01016242;AK096706;AK123991;AL117474;AL161911;AMYH01021688;BC028086;BC040969;BC052374;BX648532;NR_024408 Hs.594170 1677550;1684050;1735868;1771418;2120711;2137640;2137642;2140068;2157684;2169511;5016851;5022322;5022651;5037552 D11S2560;D11S2921;D8S2279;D9S993E;RH16375;RH17469;RH69798;RH80031;RH98622;RH98870;SHGC-16719;SHGC-34045;SHGC-35191;STS-H21905 miscrna ENSG00000226752 27367 VALIDATED 1322945 PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012] 17 17 q21.1 35390586 35407738 + 38137021 38154213 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;8811196;15489334;14743216;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;10893419;9846577;9811770;9079628;9017604;18922472;21319273;21738478;15829507;19615732;20172861;21320693;22863883;22939629;16196087;17314511;12938929;16051665;16239144;18781797;21081666;21139048;21890473;21906983;21963094;21987572;22108332;22118674;15147878;19013454;19471022;22037903;15610744;17563742;17573772;18775730;21829568;19193609;20473970;19738201;22623428;23000965;23303871;23438482;22053931 5709 B4DT72;F5H8K4;H0YGV8;O43242 AA143716;ABBA01031851;AC090844;AF091075;AK022896;AK054611;AK055358;AK055799;AK094206;AK293539;AK298411;AK300081;AK300973;AMYH01008378;BC000074;BC004859;BC012302;BC020518;BC025686;BT007217;CH471152;CR456772;D67025;HY034626;NM_002809 AAC72944;AAH00074;AAH04859;AAH12302;AAH20518;AAH25686;AAP35881;ADZ15576;BAA23651;BAB71019;BAC04310;BAG51131;BAG51399;BAG57021;BAG60639;BAG61884;BAG62596;CAG33053;EAW60625;NP_002800;O43242 Hs.12970 1686542;1858189;2161637 D19S1091;RH93398;WIAF-1618 P58;RPN3;S3;TSTA2 26S proteasome non-ATPase regulatory subunit 3;26S proteasome regulatory subunit RPN3;26S proteasome regulatory subunit S3;OTTHUMP00000164347;proteasome subunit p58;tissue specific transplantation antigen 2 APPROVED protein-coding ENSG00000108344 9560 10170 REVIEWED 1350935 PSMD7P1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene 1 17 17 17 q24.1 60765782 60766834 + 61624115 61625245 + 64193745 64194797 + 280637 ABBA01029035;AC006120;AMYH01008577;NG_002412 MOV34L;PSMD7L APPROVED pseudo 7202 INFERRED 6766959 PSMD6-AS2 PSMD6 antisense RNA 2 3 p14 63989698 63997919 + 14702039 100507062 ABBA01024312;AC012557;AI652458;AK021934;AK022323;AK023371;AMYH01013248;NR_038286 Hs.593613 1665905;1773290;2142904;2163250 G15837;SGC30565;SHGC-77025;STS-N50805 APPROVED miscrna ENSG00000239653 44125 VALIDATED 5684151 PSMD8P1 proteasome 26S subunit, non-ATPase, 8 pseudogene 1 1 154386846 154387608 - 100422411 ABBA01049484;AL162591;AMYH01001417;NG_026992 pseudo 34013 INFERRED 1313972 PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 q27.1 185499716 185509534 + 184017022 184026840 + 1580863;6480464;6907045 16169070;15489334;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12692129;12477932;12419264;12167863;10893419;10625621;9846577;9811770;9126987;9079628;7639698;7601280;17353931;11278995;11285280;15029244;12791267;8811196;8774743;18337449;17081983;16189514;17502376;17646385;18079109;19013454;19490896;18656546;18922472;21145461;21319273;22238364;22466964;11734547;16990800;17220478;18544348;19060904;19615732;19626040;19638347;19815544;19881955;20562859;20800603;21465578;22863883;23106098;23184937;23190606;16335966;21320693;22939629;16196087;17314511;18086887;21571647;21733848;19471022;22145905;12938929;15840729;16239144;18274552;18457437;18775313;18781797;19269966;20479273;20972266;21081666;21139048;21149444;21245296;21693764;21726808;21890473;21906983;21987572;22118674;22434192;15610744;17573772;18775730;20810900;22275368;22318606;22586326;19193609;19546213;20473970;21151955;17203973;17110338;19738201;19805454;20085233;21150319;21963094;22623428;23000965;23438482;23455922;20614012;21853274;22505724;22797925;22921402;22952844 5708 C9JPC0;E7EW34;E9PCS3;F8WBS8;H7C1H2;H7C2Q3;Q13200 AB209843;ABBA01058449;AC078797;AI026024;AK095245;AK297256;AK301759;AK302177;AK315474;AL162014;AMYH01013717;BC002368;BC002997;BC007897;BT009736;CH471052;D78151;HY006627;NM_001278708;NM_001278709;NM_002808;U12596;U18247;X86446 AAA57339;AAA87705;AAH02368;AAH02997;AAH07897;AAP88738;BAA11226;BAD93080;BAG59734;BAG63219;BAG63543;CAA60167;CAB82366;EAW78270;EAW78271;EAW78272;NP_001265637;NP_001265638;NP_002799;Q13200 Hs.518464 1658862;1676400;1725711;1777222;2217864 G62053;PSMD2_2761;RH65279;RH70376;T03659 MGC14274;P97;Rpn1;S2;TRAP2 26S proteasome non-ATPase regulatory subunit 2;26S proteasome regulatory subunit RPN1;26S proteasome regulatory subunit S2;26S proteasome subunit p97;55.11 protein;OTTHUMP00000210627;OTTHUMP00000210628;OTTHUMP00000210629;TNFR-associated protein 2;protein 55.11;tumor necrosis factor receptor-associated protein 2;tumor necrosis factor type 1 receptor-associated protein 2 APPROVED protein-coding ENSG00000175166 9559 05870 606223 REVIEWED 734297 PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008] 1 1 q21.3 149493821 149506579 + 151227197 151239955 + 6480464;6907045 22434192;17353931;17662948;17891176;11285280;15029244;12791267;8811196;18632645;18207252;17949686;17459097;17408689;16762342;16710414;16189514;15826667;15489334;15345747;15340068;14759258;14614829;14585839;14564014;14557625;14557549;14550573;14528301;14528300;14527406;12970355;12970176;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11827521;11585840;11146632;10921894;10893419;10799514;10505793;10488153;9846577;9811770;9488668;9235903;9079628;8641424;7657640;3524692;20417181;10903862;18922472;19285159;20059542;21145461;22350919;22517668;22906049;23649778;23751493;12095625;15280365;15358145;16227581;16759355;16799550;16862145;20029029;20936779;16990800;17082820;17327906;19387488;19412159;19519434;19615732;19683493;19875440;21832049;22939629;12601813;23314748;22863883;22990118;16196087;21855799;19240029;20479273;20542005;21628408;19471022;12938929;16239144;17139257;18781797;19815544;20639865;20972266;21139048;21693764;21890473;21906983;21987572;22118674;19193609;19349277;20007692;20473970;20682791;12634850;12832454;14621999;15095410;15147878;16171779;17623810;17646385;18079109;19013454;19781552;19796170;19931242;20526895;21348451;22645313;22659184;22661229;21628461;20810900;15610744;16678104;16815440;17368669;17573772;18164080;18836575;19589775;16105547;18485873;20195357;21963094;21988832;23000965;23402259;23438482;23455922;23459205;23515276;16007098;20614012;21853274;22053931;22505724;22797925;22921402 5710 A6PVX3;H0Y3Y9;H0Y561;H7C2J9;P55036;Q5VWC4 AB033605;ABBA01049387;ABBA01049388;AL391069;AL592424;AMYH01001387;BC002365;BC072008;CH471121;NG_029700;NM_002810;U24704;U72664 AAB54057;AAB68598;AAH02365;AAH72008;ADZ15739;BAA97581;EAW53455;EAW53456;EAW53457;EAW53458;NP_002801;P55036 Hs.505059 1656551;1693226;1799116;1799200;1799952;1808408;1823466;1835756;1838710;1842360;1842752;1925170;1925172;1925174;1925176;1925178;1925180;1925182;1925184;1925186;1925188;1925190;1925192;1925194;1925196;1925198;1925200;1925202;1925204;1925206;1925208;1925210;1925212;1925214;1925216;1925218;1925220;1925222;1925224;1925226;1925228;1925230;1925232;1925234;1925236;1925238;1925240;1925242;1925244;1925246;1925248;1925250;1925252;1925254;1925256;1925258;1925260;1925262;1925264;1925266;1925268;1925270;1925272;1925274;1925276;1925278;1925280;1925282;1925284;2207546;2207548;2207550;2207552;2207554;2207556;2207558;2207560;5113979;5122690 AL033568;ECD00404;ECD00448;ECD00830;ECD05185;ECD12824;ECD19039;ECD20532;ECD22383;ECD22583;REN33410;REN33411;REN33412;REN33413;REN33414;REN33415;REN33416;REN33417;REN33418;REN33419;REN33420;REN33421;REN33422;REN33423;REN33424;REN33425;REN33426;REN33427;REN33428;REN33429;REN33430;REN33431;REN33432;REN33433;REN33434;REN33435;REN33436;REN33437;REN33438;REN33439;REN33440;REN33441;REN33442;REN33443;REN33444;REN33445;REN33446;REN33447;REN33448;REN33449;REN33450;REN33451;REN33452;REN33453;REN33454;REN33455;REN33456;REN33457;REN33458;REN33459;REN33460;REN33461;REN33462;REN33463;REN33464;REN33465;REN33466;REN33467;RH26962;RH36413;SHGC-52120;stSG627057;stSG627058;stSG627059;stSG627060;stSG627061;stSG627063;stSG627064;stSG627065 AF;AF-1;ASF;MCB1;Rpn10;S5A;pUB-R5 26S protease subunit S5a;26S proteasome non-ATPase regulatory subunit 4;26S proteasome regulatory subunit RPN10;26S proteasome regulatory subunit S5A;OTTHUMP00000014286;OTTHUMP00000014287;RPN10 homolog;S5a/antisecretory factor protein;angiocidin;antisecretory factor 1;multiubiquitin chain binding protein;multiubiquitin chain-binding protein;proteasome (prosome, macropain) 26s subunit, non-atpase,4 APPROVED protein-coding ENSG00000159352 9561 03386 601648 REVIEWED 1318199 PSMD5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012] 9 9 q33.2 122618152 122645027 - 123578331 123605299 - 1580863;6480464 11285280;15029244;12791267;18029348;8811196;15489334;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12665801;12477932;12419264;12167863;10893419;10625621;9846577;9811770;9079628;8125911;7584044;7559544;1317798;16189514;8576261;17148452;19217412;19412159;19490896;16341674;21832049;22863883;22939629;12938929;21139048;21890473;19013454;19322201;19535905;19589775;17203973;19738201;21963094;23000965;22921402 5711 F2Z3J2;Q16401;Q4VXG9;Q4VXH0 ABBA01016242;ABBA01016243;ABBA01016244;AK001065;AK026925;AK291051;AK303007;AL161911;AMYH01021688;BC014478;BM835267;CH471090;D31889;HY023459;NM_001270427;NM_005047;S79862 AAB35397;AAH14478;ABM83011;ABM86205;BAA06687;BAF83740;BAG64140;EAW87471;NP_001257356;NP_005038;Q16401 Hs.193725 1654746;1679079;1851939;2123531;5020635;5021228;5024413;5109281 D1S1425;D7S3207;GDB:312794;L17877;RH25302;RH35526;SHGC-31585;STS-D31889 KIAA0072;MGC23145;S5B 26S protease subunit S5 basic;26S proteasome non-ATPase regulatory subunit 5;26S proteasome subunit S5B;OTTHUMP00000021990 APPROVED protein-coding ENSG00000095261 9563 05121 604452 REVIEWED 1351981 PSME2P1 proteasome activator subunit 2 pseudogene 1 5 5 5 q21 93434061 93434853 + 97574746 97575725 + 97549077 97549869 + 257093 ABBA01069212;AC116347;AC134821;AMYH01015493;NG_002626 1677382 RH71322 PSME2P pseudo 20632 INFERRED 2290518 PSME2P2 proteasome activator subunit 2 pseudogene 2 13 13 13 q13 30399890 30400664 + 48243133 48244107 + 49345232 49346006 + 338099 ABBA01051010;AL139182;AMYH01005104;NG_002632 1685443 RH65053 pseudo 30160 INFERRED 2290520 PSME2P3 proteasome activator subunit 2 pseudogene 3 4 4 4 q32 157269289 157270078 + 160147590 160148579 + 159928240 159929029 + 6480464 9847074 338095 ABBA01070215;AC093700;AMYH01014647;NG_002628 pseudo 30156 INFERRED 2291754 PSME2P4 proteasome activator subunit 2 pseudogene 4 4 4 4 p14 38437369 38438183 - 37673377 37674381 - 37997072 37997886 - 9847074 338096 ABBA01074317;AC021106;AMYH01014114;NG_002629 pseudo 30157 INFERRED 2291753 PSME2P5 proteasome activator subunit 2 pseudogene 5 8 8 8 p21 25367601 25368381 + 26461002 26461965 + 26405185 26405965 + 338097 ABBA01005572;AC015743;AMYH01018593;NG_002630;NG_030020 pseudo 30158 INFERRED 2291752 PSME2P6 proteasome activator subunit 2 pseudogene 6 10 10 10 p12 22202364 22202738 + 22554532 22555105 + 22514626 22515000 + 338098 ABBA01034483;AL157831;AMYH01002179;NG_002631 1677382;2191677 MARC_4677-4678:996679594:1;RH71322 pseudo 30159 INFERRED 1351950 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012] 3 3 p14.1 63971271 63984160 - 63996231 64009120 - 6480464;6907045 10723133;17353931;11285280;15029244;12791267;15489334;14743216;14702039;12477932;7788527;14614829;14564014;14557625;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;18922472;12808465;12750511;12719574;12167863;9846577;9811770;10893419;9079628;12419264;14550573;12692129;16424905;19596235;19615732;16227581;16335966;22863883;22939629;16196087;16045761;17563742;17573772;18775730;22275368;22318606;22473755;21081666;21726808;21987572;22118674;15221960;19013454;12938929;21139048;21890473;21906983;22158537;19193609;20473970;11375929;11745344;12766061;16344560;22505724;22797925;8889548 9861 C9IZE4;C9J0E9;C9J7B7;E9PHI9;H7C531;Q15008;Q6UV22 ABBA01024312;AC012557;AF215935;AF530062;AK054730;AK055210;AK095059;AK290205;AL529900;AL832109;AMYH01013248;AU105740;AY359879;AY568086;BC000630;BC000904;BC012369;BG723464;BM681873;BX647742;CD110455;CD678025;CD692691;CH471055;D14663;DA633802;HY010377;NM_001271779;NM_001271780;NM_001271781;NM_014814 AAF65540;AAH00630;AAH00904;AAH12369;AAQ09946;AAQ63402;AAS68366;BAA03497;BAF82894;BAG52978;EAW65424;EAW65425;EAW65426;EAW65427;NP_001258708;NP_001258709;NP_001258710;NP_055629;Q15008 Hs.152536 1665905;1773290;5037552 D8S2279;SHGC-77025;STS-N50805 KIAA0107;Rpn7;S10;SGA-113M;p42A;p44S10 26S proteasome non-ATPase regulatory subunit 6;26S proteasome regulatory subunit RPN7;26S proteasome regulatory subunit S10;OTTHUMP00000213406;OTTHUMP00000213407;OTTHUMP00000213408;breast cancer-associated protein SGA-113M;p42A;phosphonoformate immuno-associated protein 4;proteasome regulatory particle subunit p44S10 protein-coding ENSG00000163636 9564 18370 REVIEWED 1320403 PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] 19 19 q13.2 43557030 43566304 + 38865190 38874464 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;18029348;8811196;7621825;16885229;15489334;15342556;15231748;15057824;14614829;14564014;14557625;14550573;14528301;14528300;22906049;21319273;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12167863;11163772;10893419;9846577;9811770;9079628;22863883;22939629;22990118;16196087;17558393;20542005;17786314;18775730;21628461;22275368;15831487;19013454;20004025;16239144;20972266;21139048;21693764;21767633;21890473;21906983;21987572;22118674;19471022;19193609;10225950;22505724;22797925 5714 K7EJC1;K7EJR3;K7EK21;K7ENY6;K7ERW6;P48556;R4GMR5 ABBA01040680;AC005789;AK301771;AK304486;AK308809;AMYH01009780;BC001164;BC065006;BC071826;BI560993;BP369299;BQ684248;BT019688;CH471126;D38047;NM_002812 AAC62833;AAH01164;AAH65006;AAV38494;BAA07237;BAG63230;BAG65296;EAW56785;NP_002803;P48556 Hs.78466 1337182;1668666;2118751;2165421;5113617;7185040;7187612 D19S1131;D19S421;RH11793;RH39050;SGC30294 HIP6;HYPF;MGC1660;Nin1p;Rpn12;S14;p31 26S proteasome non-ATPase regulatory subunit 8;26S proteasome regulatory subunit RPN12;26S proteasome regulatory subunit S14;26S proteasome regulatory subunit p31;OTTHUMP00000198258 APPROVED protein-coding ENSG00000099341 9566 10171 REVIEWED 1315780 PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008] 16 16 q22.3 72888182 72897687 + 74330673 74340186 + 1580863;6480464;6907045 17353931;11285280;15029244;12791267;8811196;7755639;17559875;17028202;16842755;16396496;15489334;15383276;15221960;14743216;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12944474;12920286;12914693;12859895;12840737;12830140;12809610;18922472;12808466;12808465;12750511;12719574;12477932;12419264;12368243;12237292;12167863;10893419;9846577;9811770;9520381;9079628;6188845;2209467;20643764;11734547;16169070;19615732;19844255;16227581;17207965;22863883;22939629;16196087;17573772;18775730;19349280;22078707;17699672;19013454;12938929;16239144;18781797;19850743;20656689;20972266;21139048;21693764;21890473;21906983;21987572;22118674;19471022;19193609;21628590;23106098;22053931;22190034;22505724;22797925 5713 B4DXI8;H3BNT7;H3BQV2;H3BTM8;P51665 ABBA01005301;AC009120;AK301996;AK315381;AMYH01007808;BC000338;BC012606;BM989341;BU601564;CA429667;CH471166;D50063;NM_002811 AAH00338;AAH12606;ADQ32347;BAA08780;BAG37774;BAG63400;EAW59162;EAW59163;NP_002802;P51665 Hs.440604 1657277;2162959;2184751 RH69368;SHGC-58416;STS-R15455 MOV34;P40;Rpn8;S12 26S proteasome non-ATPase regulatory subunit 7;26S proteasome regulatory subunit S12;26S proteasome regulatory subunit rpn8;Moloney leukemia virus-34 proviral integration;Mov34 homolog;OTTHUMP00000174936;proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog);proteasome subunit p40 APPROVED protein-coding ENSG00000103035 9565 01147 157970 REVIEWED 733724 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008] 14 14 q11.2 23682414 23685695 - 24612574 24615855 - 69948;1580863;6480464;6907045 7789512 11285280;15029244;12791267;8811196;16189514;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12519221;12477932;12419264;12200048;12167863;10893419;10799514;10199920;9846577;9840465;9811770;9620878;9344661;9079628;8663520;8125298;7989312;1429590;22173998;16226712;22863883;21832049;22939629;21139048;21890473;21906983;21987572;17110338;21988832;23000965;23624078;18685789;19017543;19193609;9346951;11745344;18187620;19403671 5721 H0YKU2;H0YLD2;H0YLG1;H0YM70;Q86SZ7;Q9UL46 ABBA01061333;AF079558;AK026580;AK225876;AK311569;AL136295;AMYH01005610;AY771595;BC004368;BC019885;BC072025;BX161498;CH471078;CR541657;CR541743;D45248;NM_002818 AAF02218;AAH04368;AAH19885;AAH72025;AAX11425;ABM84330;ABM87721;BAA08205;CAD61943;CAG46458;CAG46543;EAW66100;EAW66101;NP_002809;Q9UL46 Hs.434081;Hs.512410 1677382;1685443;1730335;2182099;2191677;5492135 D14S92E;MARC_4677-4678:996679594:1;Psme2;RH65053;RH71322;WI-18096 PA28B;PA28beta;REGbeta 11S regulator complex beta subunit;11S regulator complex subunit beta;MCP activator, 31-kD subunit;OTTHUMP00000027977;REG-beta;activator of multicatalytic protease subunit 2;cell migration-inducing protein 22;protease (prosome, macropain) 28 subunit, beta;proteasome activator 28 subunit beta;proteasome activator 28-beta;proteasome activator complex subunit 2;proteasome activator hPA28 subunit beta APPROVED protein-coding ENSG00000100911 9569 03697 602161 REVIEWED 737461 PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 q24.31-q24.32 120811029 120840154 + 122326637 122355771 + 1580863;6480464 21871126;22015693;10567574;11285280;16099819;15029244;16293776;12791267;9653651;19118035;19041685;18838534;18701138;18694622;18504423;17516568;17360176;16189514;15489334;14702039;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12778072;12750511;12719574;12477932;12419264;12167863;11940657;10893419;10799514;9846577;9811770;9079628;8811196;22134138;16226712;20878082;17409098;19490896;19657726;19877155;20069546;21477582;22863883;22939629;23618860;23824909;21439668;21496327;21554682;21813292;21728808;21862167;21448710;21988832;22934761;23000965;15146197;16712791;21837501;8889548;21139048;21890473;21906983;16341674;12684681;22440256;19322201;22053931;22505724 5715 F5GX23;F5H169;F5H182;F5H5V4;F5H7X1;F8W7V8;J3KN29;O00233 ABBA01020190;ABBA01020191;ABBA01020192;ABBA01020193;AC069503;AK055339;AK315389;AMYH01004819;BC002383;BC004184;BC004213;BI832046;BM850893;BU726372;BU956605;CB111716;CH471054;CN260241;CQ840923;FB353533;NM_001261400;NM_002813;NR_048555 AAH02383;AAH04184;AAH04213;ABM84520;ACE86443;ACE87119;BAG37782;CAH05702;CAR82351;EAW98293;EAW98294;EAW98295;EAW98296;EAW98297;NP_001248329;NP_002804;O00233 Hs.131151 1798030;2143503;2164290;5020948;5022578;5022588;5022651;5109281 D11S2921;D1S1423;D1S1425;D5S1597E;G35510;PSMD9_1060.2;RH64869;WI-19611 MGC8644;Rpn4;p27 26S proteasome non-ATPase regulatory subunit 9;26S proteasome regulatory subunit p27;OTTHUMP00000239793;OTTHUMP00000239794;OTTHUMP00000239796;OTTHUMP00000239800;OTTHUMP00000239801;homolog of rat Bridge 1;proteasome 26S non-ATPase regulatory subunit 9 APPROVED protein-coding ENSG00000110801 9567 04394 603146 REVIEWED 733032 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 q11.2 23675218 23678016 + 24605378 24608176 + 1580863;6480464;6907045 11285280;15029244;12791267;16130169;18029348;8811196;19225532;17939699;17719568;17671684;16169070;15489334;14760793;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12519221;12477932;12419264;12200048;12167863;10893419;10799514;10199920;9846577;9811770;9590240;9403698;9394799;9385652;9344661;9287111;9079628;8889548;8663520;8269930;8051173;7789512;1286667;16189514;12755701;21832049;22863883;22939629;21139048;21890473;21900206;21987572;11922078;20010787;23824909;9620878;19017543;19193609;9346951;23000965;23383295;22532226;10225950;11745344;19380743;19403671;22505724;22797925 5720 H0YKK6;H0YLU2;H0YNE3;Q06323;Q86SZ9 AB007137;ABBA01061332;ABBA01061333;AF078829;AI445328;AK307150;AK308572;AK311490;AK312211;AL136295;AMYH01005610;BC000352;BC007503;BJ993879;BM470561;BM981616;BQ060125;BT019337;BU192084;BU731923;BX248293;CH471078;CR456780;CR541658;DQ185047;L07633;NM_001281528;NM_001281529;NM_006263;NM_176783;U10360 AAA16521;AAA53230;AAF02217;AAH00352;AAH07503;AAV38144;ABM82764;ABM85950;BAA28836;BAG35144;CAD62621;CAG33061;CAG46459;EAW66105;EAW66106;NP_001268457;NP_001268458;NP_006254;NP_788955;Q06323 Hs.75348 1659237;1687942 RH75843;RH78603 IFI5111;MGC8628;PA28A;PA28alpha;REGalpha 11S regulator complex alpha subunit;11S regulator complex subunit alpha;29-kD MCP activator subunit;IGUP I-5111;OTTHUMP00000027975;OTTHUMP00000164702;REG-alpha;activator of multicatalytic protease subunit 1;interferon gamma up-regulated I-5111 protein;interferon-gamma IEF SSP 5111;interferon-gamma-inducible protein 5111;protease (prosome, macropain) 28 subunit, alpha;proteasome activator 28 subunit alpha;proteasome activator complex subunit 1;proteasome activator subunit-1 APPROVED protein-coding ENSG00000092010 9568 02803 600654 REVIEWED 1315927 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 17 17 q21 38238949 38249303 + 40985159 40995777 + 6480464;6907045 16169070;11285280;15029244;12791267;8811196;19091860;18343811;18321762;18309296;18235248;17088425;16713569;16303743;16189514;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12784391;12750511;12719574;12477932;12419264;12167863;11859414;10893419;9846577;14702039;9840465;9811770;9590240;9403698;9344661;9218537;9079628;7951316;7675458;7545954;1968796;17353931;16439211;17327906;17588519;19556897;19596235;19615732;19656465;21216954;20683941;21084564;20467919;20494959;20719955;22863883;22938444;17108031;21445096;22939629;15161933;16051665;16196087;17043677;20580715;22042974;18781797;21139048;21890473;21906983;21963094;21987572;17499743;21320693;18685789;19349277;22134242;22053931;22190034;22190037;22505724;22797925;23104922 10197 B3KQ25;B7Z8D3;K7EJF8;K7EKR3;K7EMD0;K7ENH2;K7EPX6;K7ESG5;P61289;Q6MZZ1 ABBA01006405;ABBA01006406;AC016889;AI304773;AK057221;AK074999;AK292618;AK303211;AK307110;AK314347;AMYH01008398;BC001423;BC002684;BC008020;BG708969;BI464061;BQ005550;BT019386;BX640801;CH471152;CQ782983;CR541745;JX156303;NM_001267045;NM_005789;NM_176863;NR_049772;U11292;U25756 AAA93227;AAB60335;AAH01423;AAH02684;AAH08020;AAV38193;ABM82856;ABM86043;AFP49816;BAF85307;BAG51887;BAG52046;BAH13919;CAE45884;CAF86206;CAG46545;EAW60891;EAW60892;EAW60893;EAW60894;NP_001253974;NP_005780;NP_789839;P61289 Hs.152978 1648289;1657648;1769215;5015961;5022463;5037358;5037552;5109281 D15S1477;D17S897E;D1S1425;D3S1673;D8S2279;RH16239;RH47258;STS-U11292 Ki;PA28-gamma;PA28G;PA28gamma;REG-GAMMA 11S regulator complex gamma subunit;11S regulator complex subunit gamma;Ki antigen;Ki nuclear autoantigen;PA28 gamma variant 5;PA28gamma;activator of multicatalytic protease subunit 3;proteasome activator 28 subunit gamma;proteasome activator 28-gamma;proteasome activator complex subunit 3 APPROVED protein-coding ENSG00000131467 9570 05500 605129 REVIEWED 1347146 PSMG4 proteasome (prosome, macropain) assembly chaperone 4 6 6 6 p25.2 4488059 4497215 + 3203548 3213298 + 3259162 3268300 + 6480464 17707236;16344560;16341674;15146197;14702039;21139048 389362 D6R926;D6RB92;D6REN3;E2QRC7;F2Z3E0;H7C465;Q5JS54 AA948231;ABBA01048617;AK092793;AK095683;AK096543;AK125314;AK126623;AL389983;AMYH01016030;AMYH01016031;BM738331;BM846556;BX648600;CH471087;CN429483;DA093618;NM_001128591;NM_001128592;NM_001135750 EAW55130;EAW55131;NP_001122063;NP_001122064;NP_001129222;Q5JS54 Hs.207069;Hs.731726 1646563;1646565;1655747;1656088;1656090;1701530;1776322;1855386;2150870;2171761;5014051;5022200;5022651;5037552 A002C03;A005L18;D11S2921;D6S1193E;D8S2278;D8S2279;G19913;G20307;HSCZXB092;L18426;RH104398;RH45514;RH46781;WI-13800 C6orf86;PAC4;bA506K6.2 OTTHUMP00000015962;OTTHUMP00000015963;OTTHUMP00000221165;OTTHUMP00000221166;OTTHUMP00000221167;PAC-4;hPAC4;proteasome assembly chaperone 4 protein-coding ENSG00000180822 21108 VALIDATED 1346105 PSORS1 psoriasis susceptibility 1 7240710 9158158 5674 9573 177900;609423 1345096 PSME4 proteasome (prosome, macropain) activator subunit 4 2 2 p16.2 53945075 54051354 - 54091204 54197977 - 1302306;6480464;6907045 12093752 9079628;17523843;16344560;15489334;12477932;7584044;14614829;14564014;14557625;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12167863;9846577;9811770;10893419;12419264;14550573;21145461;20379614;11285280;12791267;22863883;17314511;21697133;19013454;21987572;21139048;21890473;21906983;19193609 23198 F8WB44;F8WBH5;Q14997 AA884260;AB621805;ABBA01075243;ABBA01075244;ABBA01075245;ABBA01075246;AC008068;AK025517;AK026085;AK124923;AL045471;AL599601;AMYH01010356;AU117034;AY894754;AY894755;AY894756;BC017090;BC032418;BC043602;BC062760;BC071768;BC112169;BC113668;BC143737;BC143739;BQ898809;BU569553;CH471053;D38521;NM_014614 AAH43602;AAH71768;AAI12170;AAI13669;AAX83869;AAX83870;AAX83871;BAA07526;BAK64141;EAX00161;NP_055429;Q14997 Hs.413801 1687403;1714983;1750755;1849537;2118661;2137423;2139628;2143660;2155009;2169543;5037552 A008R18;BCD1993;D3S3883;D8S2279;RH120829;RH35907;RH68270;RH93416;SGC35022;SHGC-102115;WI-11560 FLJ21864;KIAA0077;MGC138374;MGC142228;PA200 OTTHUMP00000200663;proteasome activator 200 kDa;proteasome activator PA200;proteasome activator complex subunit 4 protein-coding ENSG00000068878 20635 09652 607705 VALIDATED 1349813 PSORS1C2 psoriasis susceptibility 1 candidate 2 6 6 6 p21.3 32705537 32707353 - 31213290 31215106 - 31105311 31107127 - 6480464 15523160;12930300;12823445;10545595;8999895;19851445;21750679;23144326;23263863 170680 Q5SQ83;Q9UIG4 AB031480;AB088114;AB202103;ABBA01038068;AF484420;AL662844;AL662867;AL773544;AMYH01016209;BX927139;CH471081;CR753819;CR759815;NG_021348;NM_014069 AAI72314;AAO49377;BAA88131;BAC54949;BAE78627;EAX03359;NP_054788;Q9UIG4 Hs.146824 1786118;2117666;5492793 RH47968;SHGC-172541;UniSTS:482638 C6orf17;SPR1 OTTHUMP00000029097;psoriasis susceptibility 1 candidate gene 2 protein protein-coding ENSG00000204538 17199 17921 613526 VALIDATED 1353176 PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 6 6 6 p21.33 32741751 32745916 - 31253461 31253637 - 31141512 31145676 - 6480464 16965413;15848982;21051598;21912425;23266558 100130889 ABBA01038070;AL662833;AL662844;AL773544;AMYH01016209;AY484516;BX088580;CR388229;CR759815;CR847794;NR_026816 AAS49640 Hs.670091 AB023059.1;NCRNA00196 miscrna ENSG00000204528 17203 PREDICTED 1342831 PSORS2 psoriasis susceptibility 2 7240710 8178173 5722 1299971;1334706;1335213;1341087;1341260;7183810;7186445;7186829;7187054 D17S784;D17S785;D17S795;D17S802;D17S921;D17S928 9574 173200;602723 7155074 PSMG3-AS1 PSMG3 antisense RNA 1 (head to head) 7 p22.3 1609709 1629262 + 6480464 11572484;12477932;14702039;16344560 114796 AACC02000053;AB067495;ABBA01039346;AC093734;AK054665;AK091044;AK092212;AMYH01016962;BC036405;BC047649;BQ447466;BX538028;CH236953;CH471144;DA046883;DA928000;DB075169;NR_021487;NR_027328;NR_027329 BAB67801;EAW87215 Hs.436146 1722037;1767539 G59905;WIAF-2189 miscrna ENSG00000230487 22230 VALIDATED 1352840 PSORS3 psoriasis susceptibility 3 7240710 8841203 7889 1298122;1336854;1337133;1337196;1337288;1337812;1338978;1339333;1340836;1342233;7185729 D4S1535;D4S1540;D4S1554;D4S1652;D4S171;D4S2361;D4S2431;D4S2623;D4S2920;D4S2921;D4S408 9575 1349574 PSORS4 psoriasis susceptibility 4 7240710 9886260;11348461 10547 1336357;1338828 D1S179;D1S305 17275 1344041 PSORS5 psoriasis susceptibility 5 737840;7240710 11863360 10573011 63870 1298239;1339914;7183415 D3S1551;D3S1768;D3S2465 17953 1350897 PSORS7 psoriasis susceptibility 7 7240710 94006 1336850;1341890;1342199;7184426;7184924;7187157 D1S197;D1S200;D1S207 14207 605606 1354250 PSORS8 psoriasis susceptibility 8 7240710 9259283 140454 17322 1345633 PSMF1 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 p13 1041906 1096426 + 1093906 1148426 + 1580863;6480464;6907045 16189514;15489334;14614829;14564014;14557625;14550573;14528301;14528300;14527406;12970355;12920286;12914693;12859895;12840737;12830140;12809610;12808466;12808465;12750511;12719574;12477932;12419264;12374861;12167863;11780052;10893419;10363639;9846577;9811770;9110174;9079628;8619474;16146763;16046164;16035254;15638724;15183343;15139295;10764772;16713569;11285280;15029244;12791267;18495667;16344560;21145461;16000308;18029348;21139048;21890473;21906983;19193609;22118674 9491 E7ER20;F5H4Z3;H0Y555;Q5QPM7;Q5QPM9;Q92530 AA885338;ABBA01053766;AF055032;AK098612;AK294134;AK300667;AK302164;AL031665;AMYH01011662;BC029836;BC126127;BC126462;BI461198;BI830805;CH471133;D88378;DA949012;DB028624;NM_006814;NM_178578 AAI26463;ADR82919;BAA13603;BAG57462;BAG62352;BAG63531;EAX10649;EAX10650;EAX10651;NP_006805;NP_848693;Q92530 Hs.471917 1334792;1672893;1683445;1759395;1766879;2136763;2168793;2168795;2173813;2179645;2217866 A002B36;D20S199;G19899;PSMF1_3511;RH66063;RH75207;RH78439;SHGC-151186;SHGC-152302;WI-12610;WI-14248 PI31 OTTHUMP00000029952;OTTHUMP00000029955;hPI31;proteasome inhibitor PI31 subunit;proteasome inhibitor hP131 subunit APPROVED protein-coding ENSG00000125818 9571 17919 REVIEWED 1312554 PSMG2 proteasome (prosome, macropain) assembly chaperone 2 18 18 18 p11.21 12585866 12608549 + 12693064 12715739 + 12658738 12725739 + 1580863;6480464 16251969;18174230;17189198;14702039;12477932;12147697;11854909;8125298;16169070;19193609;17948026;17554260;17554300;18978792;17207965;22939629;21139048;21890473;21906983 56984 K7ENR6;K7ER45;Q969U7;Q9P1R6 ABBA01074026;ABBA01074027;ABBA01074028;AF068295;AF161378;AF168712;AF276707;AK025410;AK057005;AK225882;AMYH01008837;AMYH01008838;AMYH01008839;AP005482;BC013356;BF668035;BR000237;CH471113;CR457181;EF445040;NM_020232;NM_147163 AAF28938;AAF65184;AAF87314;AAH13356;AAK69439;ACA06090;ADQ31875;BAG51841;CAG33462;EAX01540;EAX01541;EAX01542;FAA00023;NP_064617;NP_671692;Q969U7 Hs.464652 2132797 A006T17 CLAST3;HCCA3;HsT1707;MDS003;MGC15092;PAC2;TNFSF5IP1 CD40 ligand-activated specific transcript 3;HDCMC29P;HSPC260;OTTHUMP00000162488;PAC-2;hepatocellular carcinoma susceptibility protein;hepatocellular carcinoma-susceptibility protein 3;likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3);proteasome assembling chaperone 2;proteasome assembly chaperone 2;tumor necrosis factor superfamily member 5-induced protein 1;tumor necrosis factor superfamily, member 5-induced protein 1;x 003 protein protein-coding 24929 11638 609702 VALIDATED 5686928 PSPC1-OT1 PSPC1 overlapping transcript 1 (non-protein coding) q12.11 100861521 AI193523;AL354808 Hs.656058 miscrna 42702 6481310 PSPC1-AS1 PSPC1 antisense RNA 1 100874105 AL354808 APPROVED miscrna 40915 5133165 PSPC1P1 paraspeckle component 1 pseudogene 1 13 13 13 q12.11 837698 863458 - 18673111 18680706 - 19775777 19801572 - 642395 ABBA01068551;ABBA01068552;AL139327;AMYH01004935;AMYH01004936;NG_011334 1677158;1737385;2176444 D13S967;RH99234;SHGC-58322 pseudo 42033 INFERRED 6481514 PSPC1P2 paraspeckle component 1 pseudogene 2 13 25140981 25144866 + 100873875 ABBA01007893;AL359538;AMYH01004974;NG_032524 pseudo 42643 INFERRED 1313491 PSMG1 proteasome (prosome, macropain) assembly chaperone 1 21 21 q22.3 39469254 39477310 - 40547372 40555440 - 1580863;6480464 16251969;15670775;15590417;18793612;18758464;17189198;15489334;14702039;12477932;10872820;10830953;9784380;21145461;16712791;20062062;21079743;21509594;21300955;22863883;22990118;22939629;21139048;21890473;21906983;19379481;19193609;22053931;22797925 8624 F8WBH7;H7C3B4;O95456 AA731200;AB451468;ABBA01009348;AF129408;AF417108;AJ006291;AK001455;AK308614;AK315406;AL163279;AMYH01012244;AW594615;AY463963;BC003619;BC010424;BC011755;BC012809;BE779375;BM013494;BM460414;BM462074;BM476420;BQ008489;BR000236;CB160221;CH471079;CR541821;CR541852;FN152980;NM_001261824;NM_003720;NM_203433;NR_049728 AAH03619;AAH10424;AAH11755;AAH12809;AAR25628;ABM83237;ABM86437;BAG37798;BAG70282;CAA06957;CAB90451;CAG46620;CAG46650;EAX09664;EAX09665;EAX09666;FAA00022;NP_001248753;NP_003711;NP_982257;O95456 Hs.473838 1336571;1654750;1690185;1800944;1810062;1810802;1812894;1816244;1817690;1822828;1829394;1830148;1830718;1838492;1896566;1896568;1896570;1897398;1897400;1897402;1897404;1897406;1897408;1897410;1897412;1897414;1897416;1897418;1897420;1897422;1897424;1897426;1897428;1897430;1897432;1897434;1897436;1897438;1897440;1897442;1897444;1897446;1897448;1897450;1897452;1897454;1897456;1897458;1897460;1897462;1897464;1897466;1897468;1897470;1897472;1897474;1897476;1897478;1897480;1897482;1897484;1897486;1897488;2121047;2202870;2202872;2202874;2202876;2202878;2202880;2202882;2202884 D11S906;D12S2018;ECD01337;ECD06023;ECD06399;ECD07460;ECD09163;ECD09897;ECD12502;ECD15828;ECD16207;ECD16495;ECD20420;REN19069;REN19070;REN19071;REN19491;REN19492;REN19493;REN19494;REN19495;REN19496;REN19497;REN19498;REN19499;REN19500;REN19501;REN19502;REN19503;REN19504;REN19505;REN19506;REN19507;REN19508;REN19509;REN19510;REN19511;REN19512;REN19513;REN19514;REN19515;REN19516;REN19517;REN19518;REN19519;REN19520;REN19521;REN19522;REN19523;REN19524;REN19525;REN19526;REN19527;REN19528;REN19529;REN19530;REN19531;REN19532;REN19533;REN19534;REN19535;REN19536;RH91761;SHGC-51878;stSG622582;stSG622583;stSG622584;stSG622585;stSG622586;stSG622587;stSG622588;stSG622589 C21LRP;DSCR2;LRPC21;PAC-1;PAC1 Down syndrome critical region gene 2;Down syndrome critical region protein 2;OTTHUMP00000068798;OTTHUMP00000068799;PAC-1;chromosome 21 leucine-rich protein;leucine rich protein C21-LRP;proteasome assembling chaperone 1;proteasome assembly chaperone 1 protein-coding ENSG00000183527 3043 05598 605296 VALIDATED 736997 PSPN persephin The protein encoded by this gene is a neurotrophic factor, belonging to the GDNF family. Neurotrophic factors are important for the proper development and maintenance of the nervous system. These factors promote neuronal survival and can prevent the neuronal degeneration associated with injury, toxin exposure, or neurodegenerative disease. The encoded protein has amino acid similarity to its other family members, glial cell line-derived neurotrophic factor and neurturin. This gene product promotes the survival of ventral midbrain dopaminergic neurons in culture and prevents their degeneration after 6-hydroxydopamine treatment in vivo. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 6314092 6314647 - 6326305 6326860 - 6375305 6375860 - 1580863;6480464 9491986;18970938;15829225;15225646;14702039;11116144;10380959;10072588;9740802;20350599 5623 M0QYK2;O60542 ABBA01055961;AC011491;AF040962;AK055490;AMYH01009372;CH471139;NM_004158 AAC39640;AAI52718;AAI56564;EAW69100;EAW69101;NP_004149;O60542 Hs.248159 2159914;5492945;5494027 RH65607;UniSTS:480761;UniSTS:483330 PSP OTTHUMP00000237858;persephin APPROVED protein-coding ENSG00000125650 9579 04230 602921 REVIEWED 1601948 PSMG3 proteasome (prosome, macropain) assembly chaperone 3 7 7 7 p22.3 1574122 1576822 - 1573494 1576155 - 1606968 1609668 - 6480464 21145461;17189198;16341674;15489334;15146197;12853948;12690205;12477932;17207965;22863883;21139048;21890473;21906983;21963094;19193609;19322201 84262 Q9BT73 AACC02000053;ABBA01039346;AC093734;AMYH01016962;BC004308;BC027171;BM825255;BR000337;CH236953;CH471144;CN261807;NM_001134340;NM_032302 AAH04308;AAH27171;AAP21867;ADQ32854;EAL23945;EAW87212;EAW87213;FAA00325;NP_001127812;NP_115678;Q9BT73 Hs.446311 2119533 RH48827 C7orf48;MGC10911;PAC3 OTTHUMP00000147584;OTTHUMP00000200046;PAC-3;hPAC3;proteasome assembling chaperone 3;proteasome assembly chaperone 3 protein-coding ENSG00000157778 22420 14404 VALIDATED 1343678 PSORS1C1 psoriasis susceptibility 1 candidate 1 This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011] 6 6 6 p21.3 32682826 32708095 + 31190602 31215816 + 31082608 31107869 + 6480464 19115949;18976687;16029332;15708881;15301859;12930300;12477932;10545595;20139978;19851445;20041166;21750679;21801394;21912425;22277675;22896740;23001997;23128233;23144326;23263863;23326239 170679 D2IYL0;Q2M3K9;Q5SQ84;Q9UIG5 AB031479;AB088114;AB202103;ABBA01038068;AF484418;AF484419;AI243345;AL662844;AL662867;AL773544;AMYH01016209;BA000025;BC104870;BI825917;BX927139;CH471081;CR753819;CR759805;CR759815;CR936880;CR938714;DB454051;NG_021348;NM_014068 AAI04871;AAO49375;AAO49376;BAA88130;BAB63314;BAC54950;BAE78626;EAX03357;NP_054787;Q9UIG5 Hs.310958 1786118;1790853;2106129;2117666;2120024;2169589;2189593 C1_3_2;D6S1727;D6S2689;D6S2902;RH17634;RH47968;SHGC-172541 C6orf16;MGC132530;SEEK1 OTTHUMP00000029096;hypothetical protein LOC170679;psoriasis susceptibility 1 candidate 1;psoriasis susceptibility 1 candidate gene 1 protein APPROVED protein-coding ENSG00000204540 17202 17920 613525 REVIEWED 1345700 PSPHP1 phosphoserine phosphatase pseudogene 1 This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008] 7 7 7 q11.2 66885522 66894420 + 55832490 55841389 + 55832490 55841389 + 1580863;6480464 9573387;12477932 8781 O15172 ABBA01061823;ABBA01061824;AC091812;AJ001612;AMYH01017273;BC065228;NG_009001 CAA04865;O15172 1643678 D7S2915 CO9;PSPHL APPROVED pseudo 9578 604239 INFERRED 1350761 PSTK phosphoseryl-tRNA kinase 10 10 10 q26.13 118446014 118456374 + 124729546 124739896 + 124739556 124749906 + 737633;6480464;6907045 12477932 15489334;15317934;14702039;20877624;21906983 118672 C9JJW0;H7BYY4;Q8IV42 ABBA01062838;AC073585;AK094271;AK127173;AMYH01003143;AMYH01003144;BC035344;CH471066;NM_153336 AAH35344;ADZ16089;BAC86867;BAG52853;EAW49295;EAW49296;NP_699167;Q8IV42 Hs.281004 1678643 RH94240 C10orf89;MGC35392 L-seryl-tRNA(Sec) kinase;O-phosphoseryl-tRNA(Sec) kinase;OTTHUMP00000020668;OTTHUMP00000020669 protein-coding ENSG00000179988 28578 16586 611310 VALIDATED 1313649 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 9 9 9 q21.12 42914816 42965239 - 71514258 71564696 - 72324438 72374876 - 737633;6480464 12477932 16341674;21906983 375743 F5GXY1;J3KQP8;Q7Z6K3 ABBA01033812;ABBA01033813;ABBA01033814;AI937926;AK127511;AL162412;AL832683;AMYH01021392;BC053622;BM785278;CH471089;NM_001099666 AAH53622;EAW62489;NP_001093136;Q7Z6K3 Hs.744192 1334729;1669516;1778891;2107533;2132670;2154693;7187777 A004M30;ATC-P10587;D9S15;PTAR1__6945;RH36245;WI-18349 FLJ45604 4930428J16Rik;OTTHUMP00000021437;protein prenyltransferase alpha subunit repeat-containing protein 1 protein-coding 30449 VALIDATED 1320843 PSPC1 paraspeckle component 1 This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011] 13 13 q12.11 19146896 19255083 - 20248892 20357159 - 1580863;6480464 21145461;16148043;16344560;15635413;15342556;14702039;12477932;11790299;16169070;12810069;15140795;16055720;11790298;19188602;19217333;19716791;19720872;20573717;20881053;20974138;21144806;21532345;8889548;22939629;20508642;18029348;19167051;22102035;22145905;22416126;21139048;21890473;21670149;18729074;22174317 55269 B4DWI8;Q8WXF1 ABBA01068558;ABBA01068559;ABBA01068560;ABBA01068561;ABBA01068562;AF448795;AF449627;AK001817;AK090873;AK301554;AL354808;AL834505;AMYH01004939;AMYH01004940;AMYH01004941;BC014184;BM981042;BP225439;BQ685330;CA425205;CB214993;CH471075;CR457272;CX759783;DA644474;DC396174;NG_029751;NM_001042414;NR_003272;NR_044998 AAH14184;AAL59601;AAL59602;ABM83605;ABM86848;BAA91924;BAG63050;CAD39162;CAG33553;EAX08232;EAX08233;EAX08234;NP_001035879;Q8WXF1 Hs.213198 1651597;1652539;1677158;1682161;1688412;1697748;1737391;1737397;1748429;1749191;2176444 D13S183E;D13S972;D13S977;D20S530E;G64217;RH102397;RH94086;RH99234;SHGC-110875;SHGC-58322;STS-M78307 DKFZp566B1447;FLJ10955;FLJ33554;PSP1 OTTHUMP00000018077;paraspeckle component 1;paraspeckle protein 1 APPROVED protein-coding 20320 10172 612408 REVIEWED 1348128 PTBP1P polypyrimidine tract binding protein 1 pseudogene 14 14 14 q23.3 45800913 45801564 + 64816121 64816772 + 65745938 65748375 + 11024286;20585324 122888 AB072380;ABBA01018384;AL355076;AMYH01005803;NG_002328 HNRNPIP pseudo 20030 VALIDATED 1606488 PSRC1 proline/serine-rich coiled-coil 1 This gene encodes a proline-rich protein. Studies of this gene and the related mouse gene suggest that this gene is regulated by p53 and may participate in p53-mediated growth suppression. The encoded protein may function as a microtubule destabilizing protein that controls spindle dynamics and mitotic progression by recruiting and regulating microtubule depolymerases. At least one genetic variation in this gene has been associated with decreased serum levels of low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2009] 1 1 p13.3 109623701 109627294 - 109822176 109825790 - 6480464 12427559;19336575;19299407;19198609;19065533;19060910;19060906;18793611;18649068;18411309;18291097;18262040;18193044;18193043;18179892;17634449;16964243;16710414;15498874;15489334;14702039;12477932;10618717;21473853;19060911;19487539;19656773;19660754;19738423;19955471;20031591;20117088;20167577;20237496;20370913;20442857;17207965;20738937;20971364;21087763;19913121;20549515;20570916;20628086;20679960;20694560;20339536;21378988;21378990;21832049;22939629;21426902;22467851;21900206;20686565;21909109;19531213 84722 A8K0M8;Q5T2Z0;Q5T2Z1;Q6PGN9 ABBA01068377;AF223000;AF322891;AF447874;AK126567;AK289593;AL390252;AMYH01000930;BC056909;BE206101;BF984061;BI857497;BJ992594;BQ448200;BX649139;CH471122;NM_001005290;NM_001032291;NM_032636 AAH56909;AAN73431;AAN73434;AAQ04649;ADQ32603;BAC86599;BAF82282;EAW56373;EAW56374;EAW56375;EAW56376;EAW56377;NP_001005290;NP_001027462;NP_116025;Q6PGN9 Hs.405925 1649752 SHGC-75276 DDA3;FP3214;MGC1780;RP11-297O4.2 OTTHUMP00000013785;OTTHUMP00000013786;OTTHUMP00000013789;OTTHUMP00000013790;OTTHUMP00000205834;OTTHUMP00000205835;OTTHUMP00000205836;differential display and activated by p53;p53-regulated DDA3;proline/serine-rich coiled-coil protein 1 APPROVED protein-coding ENSG00000134222 24472 13127 613126 REVIEWED 1318726 PSPH phosphoserine phosphatase The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008] 7 7 p11.2 56046238 56086762 - 56078744 56119268 - 1580863;2308873;6480464;6907045 7201630 9188776;17353931;15489334;15291819;14702039;14673469;12477932;12213811;11752790;10567362;9603909;9222972;8125298;6297855;6249179;6297854;2851960;1965857;1964582;17207965;12777757;21726982;21139048;21906983;23275563 5723 C9JBI3;C9JEJ7;F8WD74;P78330 ABBA01061844;ABBA01061845;ABBA01061846;ABBA01061847;ABBA01061848;ABBA01061849;AC092579;AK054677;AK126156;AK223508;AK315235;AMYH01017277;AW574794;BC052958;BC063614;BX537439;CH471140;NG_011473;NM_004577 AAH63614;ADQ32586;BAD97228;BAG37662;CAD97681;EAX07968;EAX07969;EAX07970;EAX07971;NP_004568;P78330 Hs.512656 1662402;2147302;5014019;5014051;5015619;5015961;5016478;5016700;5016781;5017227;5020635;5020946;5022578;5022651;5024039;5037552 A002S16;D11S2921;D11S3114;D15S1477;D16S325;D1S1423;D5S2354;D7S3207;D8S2278;D8S2279;G38154;GDB:434012;L17971;RH68196;RH79802;SHGC-67307 PSP;PSPHD L-3-phosphoserine phosphatase;O-phosphoserine phosphohydrolase;OTTHUMP00000159738;OTTHUMP00000209319;OTTHUMP00000209324;OTTHUMP00000209327;PSPase;phosphoserine phosphatase APPROVED protein-coding ENSG00000146733 9577 01406 172480 REVIEWED 1316821 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq, Jul 2008] 15 15 q24-q25.1 75074609 75116726 + 77287465 77329671 + 1580863;6480464;6907045;7240710 11711533;17353931;9857189;18576390;18480402;17964261;17213252;16670297;16344560;16204241;15489334;14595024;12530983;12477932;11971877;11163214;9804817;9488710;9422760;9265651;11313252;15862967;19041431;19584923;19700023;19731031;19807924;20379614;21438098;21790734;16964398;16418535;22745667 9051 B4E1Z9;C9K004;H0YKF1;H0YKY3;H0YLI2;H0YLM9;H0YLW8;H0YLX8;H0YNR2;H0YNS1;J3KPG6;O43586 AB451310;AB451440;ABBA01060558;ABBA01060559;AC090181;AF038602;AF038603;AK298733;AK304052;AK308462;AK309856;AK310072;AK310126;AK316220;AL110110;AMYH01006823;AMYH01006824;BC008602;CH471136;DB123759;JA885120;NG_007526;NM_003978;U94778 AAD00762;AAD11958;AAD11959;AAH08602;ABM82705;ABM85889;BAG60882;BAG64961;BAG70124;BAG70254;BAH14591;CCQ77685;EAW99213;EAW99214;EAW99215;NP_003969;O43586 Hs.129758 1764381;1854599 D15S1170;SHGC-147975 CD2BP1;CD2BP1L;CD2BP1S;H-PIP;PAPAS;PSTPIP CD2 antigen-binding protein 1;CD2 cytoplasmic tail-binding protein;CD2-binding protein 1;PEST phosphatase-interacting protein 1;proline-serine-threonine phosphatase-interacting protein 1 APPROVED protein-coding ENSG00000140368 9580 05891 604416;606347 REVIEWED 733075 PTAFR platelet-activating factor receptor This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 1 1 p35-p34.3 28348425 28375778 - 28473677 28520447 - 1581279;1580863;6480464;6907045 12812996 1656963;1657923;1281995;10601267;8892648;8978777;8168510;18632638;18187960;17928889;16984258;16837045;16793019;16306050;16115894;15748960;15489334;15160913;15149885;15115767;14617636;14500726;14500680;12756251;12713583;12601006;12477932;12467527;11928813;11861812;11729201;11297424;10395919;10391209;9657523;9037196;8395240;8387031;8383507;7848283;7566121;6325330;3010668;1374385;1322356;1312046;19913121;20628086;21247619;18029348;15028279;16344560;19474802;19620302;19703903;20007715;20237496;20392487;20032301;16754659;20637897;18577758;17192395;21063106;16709866;21615674;22570511;22577252;22595142;21658861;20576130;21988832;23070058;17301560 5724 A8K7N8;P25105 ABBA01035013;ABBA01035014;ABBA01035015;AK290240;AK292053;AK313174;AL137792;AL353354;AMYH01000427;AY275466;BC013816;BC063000;BT009801;CD013879;CH471059;D10202;D31736;DA705644;DA923972;L07334;M76674;M80436;M88177;NG_029815;NM_000952;NM_001164721;NM_001164722;NM_001164723;S52624;S56396 AAA60001;AAA60002;AAA60108;AAA60214;AAB24695;AAB25755;AAH13816;AAH63000;AAP32298;AAP88803;ABM82642;ABM85819;ACE87813;ACT64516;BAA01050;BAA06537;BAF82929;BAF84742;BAG35991;EAX07711;NP_000943;NP_001158193;NP_001158194;NP_001158195;P25105 Hs.77542 1684465;1701680;1744471;1852625;2113694;2154881;2164239;2184872;5015619;5016478;5020881;5022200;5022578 A006N37;D11S3114;D1S1423;GDB:434012;GDB:455460;L17709;L18426;PTAFR;RH104513;RH68225;RH93431;SHGC-74513;WI-7771 PAFR OTTHUMP00000004040;OTTHUMP00000004041;PAF-R;platelet-activating factor receptor APPROVED protein-coding ENSG00000169403 9582 01422 173393 REVIEWED 1321137 PTCD2 pentatricopeptide repeat domain 2 5 5 5 q13.2 67511586 67550568 + 71651956 71690936 + 71616200 71655180 + 737633;6480464 12477932 16344560;14702039;18729827;20877624;21890473 79810 B7Z8L7;B7Z8R2;D6RGK0;D6RIZ0;D6RJH8;E5RHU2;E9PFV7;Q8WV60 ABBA01061904;ABBA01061905;AC026406;AK022660;AK056761;AK298750;AK303639;AK303776;AMYH01015402;BC018720;CH471084;CR457290;DA082506;NM_024754 AAH18720;BAB14162;BAG51808;BAH12866;BAH14003;BAH14048;CAG33571;EAW95704;EAW95705;EAW95706;NP_079030;Q8WV60 Hs.126906 1697382 RH102189 FLJ12598 OTTHUMP00000126945;OTTHUMP00000190857;OTTHUMP00000223573;pentatricopeptide repeat-containing protein 2;pentatricopeptide repeat-containing protein 2, mitochondrial protein-coding ENSG00000049883 25734 15193 VALIDATED 1352589 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 18 18 18 q12 40371650 40460439 - 41817500 41906221 - 43563502 43652250 - 6480464 16344560;15862967;15489334;15342556;14702039;12477932;9804836;9804817;8889549;20032092;21906983;19380743 9050 Q9H939 ABBA01022325;ABBA01022326;ABBA01022327;ABBA01022328;ABBA01022329;AC012569;AC090355;AK023100;AMYH01008970;AMYH01008971;BC026223;BC035395;BP352927;CH471088;DA943980;NM_024430 AAH35395;ABM84125;ABM84126;ABM84127;ABM84621;ABM87526;ABM87527;ABM87528;BAB14404;EAX01466;EAX01467;NP_077748;Q9H939 Hs.567384 1777463;1778131;2126217;2141559;2169481;2175001;5015861;5037552;7185938 A002Q33;AFMB022XC9;D10S16;D8S2279;RH48786;RH66348;STS-D29160;WI-3599 MAYP;MGC34175 OTTHUMP00000202182;OTTHUMP00000202254;PEST phosphatase-interacting protein 2;proline-serine-threonine phosphatase-interacting protein 2 protein-coding ENSG00000152229 9581 06687 VALIDATED 7241714 PTCD2P2 pentatricopeptide repeat domain 2 pseudogene 2 100132487 ABBA01021953;AL157394;AMYH01002933;NG_022186 pseudo 45168 INFERRED 1344871 PTCD2P1 pentatricopeptide repeat domain 2 pseudogene 1 14 14 q11.2 20062285 20063429 - 20992448 20993574 - 100131302;414887 ABBA01061232;AL163195;AMYH01005590;NG_022837 pseudo 31718 INFERRED 732339 PTBP1 polypyrimidine tract binding protein 1 This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 p13.3 748411 763327 + 797392 812327 + 1580863;6480464 1906036;10653975;16373488;16713569;12226669;1641332;19144709;18714005;18499661;18335065;18216120;18193060;17936301;17592047;17507659;17497933;16885029;16765895;16362043;16314454;16282332;16189514;16179478;16169070;15767428;15669107;15635413;15489334;15341728;15169918;15057824;15039777;14769134;12851456;12667457;12581738;12527772;12517964;12509450;12477932;12449425;12388589;12213192;12004072;11788707;11781313;11739782;11724819;11602719;11060040;11024286;11003644;10856256;10772858;9563502;9512476;9166399;8883365;8626763;8449401;7558043;1906035;1286667;12033793;21145461;21319273;16260624;21362553;16055720;16159877;16449650;15975576;16051233;19226116;19450550;19590510;20064465;20071487;20080103;20190818;19889140;17549794;21242519;21411518;22863883;23022380;23208419;21518792;15009664;16376875;21832049;21976412;22939629;16196087;18457437;18781797;19596686;21081666;21139048;21549307;21693764;21890473;21906983;21980057;21987572;22079093;22178446;19471022;21252943;17620599;22446626;22705452;22125086;16009940;21628590;22427970;15576338;22268729;22505724;22944692;23077502;23313552 5725 A6NLN1;K7EK45;K7EKJ7;K7EKX4;K7ELW5;K7ES59;P26599 AB208910;ABBA01002595;ABBA01002596;AC006273;AMYH01009201;BC002397;BC004383;BC013694;BC023219;BQ068293;BT006819;CH471242;NM_002819;NM_031990;NM_031991;X60648;X62006;X65371;X65372;X66975 AAC99798;AAH02397;AAH04383;AAH13694;AAP35465;BAD92147;CAA43056;CAA43973;CAA46443;CAA46444;CAA47386;EAW61152;EAW61153;EAW61154;EAW61155;EAW61156;EAW61157;EAW61158;NP_002810;NP_114367;NP_114368;P26599 Hs.172550 HNRNP-I;HNRNPI;HNRPI;MGC10830;MGC8461;PTB;PTB-1;PTB-T;PTB2;PTB3;PTB4;pPTB 57 kDa RNA-binding protein PPTB-1;RNA-binding protein;heterogeneous nuclear ribonucleoprotein I;heterogeneous nuclear ribonucleoprotein polypeptide I;hnRNP I;polypyrimidine tract binding protein;polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I);polypyrimidine tract-binding protein 1 APPROVED protein-coding ENSG00000011304 9583 02823 600693 REVIEWED 1322951 PTCD1 pentatricopeptide repeat domain 1 7 7 7 q22.1 93750946 93770620 - 98854681 98874355 - 99014362 99036462 - 6480464 15489334;14702039;12853948;12690205;12477932;9847074;9734811;16344560;19651879;22939629;20186120;21857155;21890473;22446626 26024 A4D273;C9JBD7;C9JGL8;C9JJT5;C9JQN9;C9JWL7;O75127 AACC02000084;AB014532;AB073644;ABBA01013262;ABBA01013263;AC004922;AC073063;AC090113;AK001615;AK291004;AK307981;AMYH01017721;BC003688;BC024042;BC080580;BC103495;BC103502;BC103661;BG717613;CH236956;CH471091;DA770648;NM_015545 AAH03688;AAH80580;AAI03496;AAI03503;AAI03662;BAA31607;BAF83693;BAG50949;EAL23880;EAW76669;NP_056360;O75127 Hs.632313;Hs.729925 1693582;5015619;5015961;5022588;5022651;5037552 D11S2921;D11S3114;D15S1477;D5S1597E;D8S2279;SHGC-58489 KIAA0632 OTTHUMP00000206312;OTTHUMP00000218971;pentatricopeptide repeat-containing protein 1;pentatricopeptide repeat-containing protein 1, mitochondrial protein-coding ENSG00000106246 22198 11463 614774 VALIDATED 1343835 PTBP2 polypyrimidine tract binding protein 2 The protein encoded by this gene binds to the intronic cluster of RNA regulatory elements, downstream control sequence (DCS). It is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein but it is expressed primarily in the brain. [provided by RefSeq, Jul 2008] 1 1 p21.3 96959966 97052937 + 97187175 97280605 + 6480464 18635961;17967866;17548433;17466948;17137510;16936729;16839202;16713569;16710414;16260624;16189514;16002244;15823607;15684381;15489334;14702039;14667811;12667457;12477932;12213192;11790298;11694331;11003644;8626763;12581738;19571811;19756143;20010808;20160105;20379614;20935630;20520763;22939629;21282112;19471022;21139048;21906983;18335065;19322201;21628590;22688191;21987572;21988832;22365833;23000965;23525800;22505724 58155 B4DI28;B4DSS8;Q9UKA9 AB051232;AB051233;AB209266;ABBA01045481;ABBA01045482;AF176085;AF530580;AF530581;AF530582;AF530583;AF530584;AF530585;AI052528;AI968454;AK022716;AK025333;AK092216;AK295384;AK299755;AK299897;AK299922;AL357150;AMYH01000813;AMYH01000814;AMYH01000815;AMYH01000816;BC016582;BK000526;CH471097;DB473562;NM_021190;U89241 AAD09652;AAF14284;AAH16582;AAM94624;AAM94625;AAM94626;AAM94627;AAM94628;AAM94629;ABM81953;ABW03352;BAB71742;BAB71743;BAD92503;BAG58340;BAG61644;BAG61740;BAG61757;DAA00060;EAW73005;EAW73006;EAW73007;EAW73008;EAW73009;EAW73010;NP_067013;Q9UKA9 Hs.596061;Hs.743449 1674228;1713177;2118828;5015404;5020946;5022200;5109281 AL009743;D1S1425;L17705;L17971;L18426;RH120375;RH66475 FLJ34897;PTB;PTBLP;brPTB;nPTB;nPTB5;nPTB6;nPTB7;nPTB8 OTTHUMP00000012410;OTTHUMP00000012411;OTTHUMP00000012412;OTTHUMP00000012413;PTB-like protein;neural polypyrimidine tract binding protein;neural polypyrimidine tract-binding protein;neurally-enriched homolog of PTB;polypyrimidine tract-binding protein 2;splicing regulator APPROVED protein-coding ENSG00000117569 17662 12233 608449 REVIEWED 1604843 PTCH2 patched 2 This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] 1 1 p34.1 45060674 45081203 - 45285516 45308616 - 5510013;5510026;6480464;6484113;6907045;7240710 20716670;20635334 9811851;19237606;19221557;19208383;18285427;16710414;14613484;12975309;10029063;9931336;20634891;12477932;11001584;17620599;22318606 8643 H0Y7J2;Q9Y6C5 AA781365;ABBA01050906;ABBA01050907;AF087651;AF091501;AF119569;AI798853;AK307168;AL136380;AL592166;AMYH01000568;AY358555;AY359016;AY438664;BC143712;BX089003;CH471059;NG_013369;NM_001166292;NM_003738 AAC79847;AAD17260;AAD25953;AAI52912;AAQ88919;AAQ89375;AAR05447;EAX07017;NP_001159764;NP_003729;Q9Y6C5 Hs.591497 PTC2 OTTHUMP00000010158;patched homolog 2;protein patched homolog 2 APPROVED protein-coding ENSG00000117425 9586 04722 155255;603673;605462 REVIEWED 1603018 PTCHD2 patched domain containing 2 1 1 1 p36.22 10651871 10709957 + 11461882 11520227 + 11539295 11597640 + 6480464 15738394;21697133;15645143;11181995;10718198;8889548;16169070;16258256;19179482 57540 C9J5P0;Q9P2K9;Q9UJD7 AB037758;AB593117;ABBA01003050;ABBA01003051;AL031735;AL117235;AL117236;AL590989;AMYH01000255;AMYH01000256;BU733859;CH471130;NM_020780 AAI72581;BAA92575;BAJ84057;CAB55302;CAB55303;EAW71687;NP_065831;Q9P2K9 Hs.202355 1659130 SHGC-74217 DISP3;KIAA1337 OTTHUMP00000002067;dispatched 3;patched domain-containing protein 2;protein dispatched homolog 3 protein-coding ENSG00000204624 29251 611251 VALIDATED 7204963 PTCHD3P2 patched domain containing 3 pseudogene 2 2 170623693 170625259 - 23251661 100533664 ABBA01014896;AC009967;AMYH01011251;NG_028775 pseudo 44946 INFERRED 7204964 PTCHD3P3 patched domain containing 3 pseudogene 3 6 109609774 109611973 - 100533665 ABBA01026128;ABBA01026129;AL359711;AMYH01016582;NG_028811 pseudo 44947 INFERRED 1319156 PTCH1 patched 1 This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008] 9 9 q22.3 97245085 97319068 - 98205264 98279247 - 1580863;2324911;704355;2324910;5510013;5510026;6480464;6484113;6907045;7240710 16804411;9422511;19396459;20716670;20635334 8906787;8681379;8981943;19465923;19453261;19414732;19351817;19287961;19287498;19266077;19221557;19213072;19077462;19074885;19002359;18990233;18854826;18754037;18679421;18543049;18538319;18502968;18436435;18391952;18302678;18272036;18068533;18068337;18059486;17950424;17597822;17597182;17487419;17461467;17310997;17295047;17258529;16945339;16934747;16931872;16867986;16780502;16777989;16675912;16645598;16419085;16344560;16322088;16203740;16109989;16088933;15905200;15888139;15780749;15769472;15712338;15598212;15592520;15581634;15565302;15534865;15502856;15492847;15459969;15308259;15164053;12925203;12874272;12516098;12477932;12407090;12241103;12204003;12203113;12192414;12007715;11941477;11836379;11718263;11331587;11286632;11231326;11001584;10874314;10200051;9926943;9811851;9620294;9341860;8889548;8840969;8782823;8658145;8647801;1348213;20012784;19913121;20546612;20583170;20628086;20634891;20690502;20237162;19008023;19473442;19521425;19557015;19561609;19564910;19618880;19673023;19728145;19730683;19937600;20010835;20050020;20068110;20346027;20538960;20561215;20609239;20546211;20858761;20301330;21129534;20937227;21210781;21234763;20371205;21127038;21206974;19362041;21059263;21861228;22945423;21188540;21138481;21266456;21389835;21514272;17850284;21368767;21699520;11278759;16229683;21507611;21889114;22077640;21618411;21861243;21188685;21906983;21931618;22911366;21424326;22357618;22007994;22069255;22183980;22201935;22340170;20301702;20881960;22221699;23313819;22829011;23317547;23349881;23284291;22313357;22407314;22456124;12635140;22952776;21651513 5727 F8VPA3;F8VQS6;F8VXL8;H0Y3B8;H0YHK0;H3BLX7;Q59FG5;Q5VZC2 AB189436;AB189437;AB189438;AB189439;AB189440;AB209495;AB212827;AB212828;AB214500;AB233422;AB233423;AB233424;AB239329;ABBA01043615;ABBA01043616;ABBA01043617;ABBA01043618;AI358880;AI494442;AK124593;AK130256;AL161729;AMYH01021535;AMYH01021536;AY395758;AY395768;AY395772;BC043542;BF195352;BM974119;BX117041;CH471174;CR744004;DB093644;NG_007664;NM_000264;NM_001083602;NM_001083603;NM_001083604;NM_001083605;NM_001083606;NM_001083607;U43148;U59464 AAC50496;AAC50550;AAH43542;AAI52920;AAR21238;AAR21239;AAR21240;BAC85893;BAD74184;BAD74185;BAD74186;BAD74187;BAD74188;BAD92732;BAE45300;BAE45302;BAE45303;BAE45304;BAF47711;BAF47712;EAW92631;EAW92632;NP_000255;NP_001077071;NP_001077072;NP_001077073;NP_001077074;NP_001077075;NP_001077076;Q13635 Hs.494538 1341828;1685255;1705608;1787170;1789310;1789312;1789314;1789316;1789318;1789320;1789322;1789979;1789981;1796584;2131362;5022049;5491547 D9S1816;G67931;G67932;G67933;G67934;G67935;G67936;G67937;MARC_17597-17598:1030546407:1;PTCH_1064;RH92918;SHGC-156297;SHGC-83001;SHGC-8725;csnpptch-pcr11-1;csnpptch-pcr22-1;hmPTCH1 BCNS;FLJ26746;FLJ42602;HPE7;NBCCS;PTC;PTC1;PTCH;PTCH11 OTTHUMP00000021709;OTTHUMP00000021710;OTTHUMP00000242642;OTTHUMP00000242643;PTCH protein +12b;PTCH protein +4';PTCH protein -10;PTCH protein -3,4,5;patched homolog (drosophila);patched homolog 1;protein patched homolog 1 APPROVED protein-coding ENSG00000185920 9585 03200 109400;601309;605462;610828 REVIEWED 732344 PTBP3 polypyrimidine tract binding protein 3 The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 9 q32 85479714 85594900 - 114020536 114135733 - 114979995 115095944 - 704461;6480464 10207106 19441079;15489334;14702039;12477932;15146197;20379614;23022380;23024754;21832049;22939629;18335065;19471022;21139048;21890473;21906983;22575643;19322201;21628590;22505724 9991 B1ALY4;Q86YH9 AB023967;ABBA01042708;ABBA01042709;ABBA01042710;AK001685;AK302558;AL158824;AL359073;AL710523;AMYH01021644;BC039896;BC044585;BC045825;BI463123;BQ006891;BX097575;BX422279;CH471105;CN371677;CR749471;NM_001163788;NM_001163790;NM_001244896;NM_001244897;NM_001244898;NM_005156 AAH39896;AAH44585;BAA75466;BAG50959;BAG63824;CAH18301;EAW59099;EAW59100;EAW59101;EAW59102;NP_001157260;NP_001157262;NP_001231825;NP_001231826;NP_001231827;NP_005147;O95758 Hs.269988 1697556;1700022;2171922;2172059 A008B29;RH102286;RH103623;WI-18346 DKFZp781I1117;ROD1 OTTHUMP00000021931;OTTHUMP00000021932;OTTHUMP00000021933;ROD1 regulator of differentiation 1;fission yeast differentiation regulator;polypyrimidine tract-binding protein 3;regulator of differentiation 1 APPROVED protein-coding ENSG00000119314 10253 09603 607527 REVIEWED 1605991 PTCD3 pentatricopeptide repeat domain 3 2 2 2 p11.2 86161451 86197422 + 86186849 86222791 + 86333305 86369280 + 6480464 17353931;19427859;16344560;16189514;12477932;8889549;8889548;19019082;16169070;21145461;16712791;20877624;19913121;20628086;16341674;16522924;22939629;20186120;21139048;21890473;20360068;22446626;22586326 55037 B4DF73;B8ZZQ4;F8WBP9;F8WE76;Q96EY7 ABBA01075772;AC009309;AK000765;AK293962;AK315676;AL832520;AMYH01010498;AW004698;AY277598;BC001758;BC011832;BE670168;BI825315;BM682009;BM729078;BM792175;BM930217;BQ071234;BQ574414;BQ883563;BU631567;CA776493;CB163660;CH471053;DA479719;N71834;NM_017952 AAH01758;AAH11832;AAQ18037;BAA91370;BAG38041;BAG57334;CAH56345;EAW99464;EAW99465;EAW99466;NP_060422;Q96EY7 Hs.323489;Hs.623885 1337154;1772046;1772048;1783964;1848173;2128900;2133011;2138488;2156154;2156156;2159409;5020274;7187269 A001W01;D6S1615;G19971;L18441;RH12062;RH36411;RH45713;RH48137;SHGC-132727;SHGC-31152;SHGC-37694;WI-15372 DKFZp666K071;FLJ20758 OTTHUMP00000203254;TRG-15;pentatricopeptide repeat domain-containing protein 3, mitochondrial;pentatricopeptide repeat-containing protein 3, mitochondrial;transformation-related gene 15 protein APPROVED protein-coding ENSG00000132300 24717 08631 614918 VALIDATED 6483485 PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding) 14 q13.3 36604916 36645857 - 22586128 100886964 ABBA01061519;ABBA01061520;AL162511;AMYH01005671;CB987890;JN689234;NR_049735 Hs.742592 miscrna 43959 614821 PROVISIONAL 1352131 PTCHD1 patched domain containing 1 This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011] X X X p22.11 27474669 27536553 + 23262906 23324839 + 23352985 23414918 + 1580863;6480464 14702039;12477932;20531469;20844286;21091464;20301615;22610502 139411 H7C2M0;Q96NR3 ABBA01072166;ABBA01072167;ABBA01072168;ABBA01072169;ABBA01072170;ABBA01072171;ABBA01072172;ABBA01072173;ABBA01072174;ABBA01072175;ABBA01072176;AC073910;AK054858;AK298796;AMYH01022149;AMYH01022150;BC062344;BC121061;BX107899;CH471074;DC351268;DC365753;NG_021300;NM_173495 AAH62344;AAI21062;BAB70816;BAG60932;EAW98994;NP_775766;Q96NR3 Hs.319503 1342077;1668907;2161120 DXS8104;RH46883;RH48273 FLJ30296;MGC149798 OTTHUMP00000023055;patched domain-containing protein 1 APPROVED protein-coding 26392 06548 300828 VALIDATED 1603484 PTCHD3 patched domain containing 3 10 10 10 p12.1 27450702 27466988 - 27727206 27743227 - 27687117 27703297 - 6480464 17904097;12477932;21439084;22318606;22581228 374308 Q3KNS1 ABBA01034391;AK126025;AL355493;AMYH01002205;BC107139;CH471072;DB509520;JF332167;NM_001034842 AAI07140;AEA72435;BAC86399;EAW86056;NP_001030014;Q3KNS1 Hs.631832 FLJ44037;MGC129888;PTR OTTHUMP00000216300;patched domain-containing protein 3;patched-related protein protein-coding ENSG00000182077 24776 611791 VALIDATED 2311612 PTCSC1 papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding) q24 19147577;14702039 100302522 AK023948 Hs.658759 NCRNA00197;PTCSC APPROVED miscrna 37127 7205322 PTCHD3P1 patched domain containing 3 pseudogene 1 10 p11.23 29698501 29711299 + 12477932;14702039 387647 ABBA01034365;AK056080;AL158167;AL832706;AMYH01002214;BC014163;BC031656;BC050354;BC063483;BC066966;BC073888;BC107795;BC141947;CH471072;NR_003930 BAG51617;EAW86021;EAW86022 Hs.660899 1683527;1689043;1697438;1773900;1847344;1855212;2144027;2162090 A008M13;D10S2195;RH102220;RH68411;RH68469;RH93948;RH98351;SGC38028 pseudo ENSG00000224597 44945 PROVISIONAL 7246138 PTENP1-AS PTENP1 antisense RNA The phosphatase and tensin homolog (PTEN) gene encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. A highly homologous processed pseudogene of PTEN is found on chromosome 9 and regulates PTEN by both sense (GeneID: 11191) and antisense RNAs. This antisense RNA (asRNA) regulates PTEN transcription and mRNA stability. [provided by RefSeq, Apr 2013] 23435381 101243555 BX374997;NR_103745 Hs.598470 miscrna 48773 PROVISIONAL 1606357 PTCHD4 patched domain containing 4 6 6 6 p12.3 49402015 49592692 - 47953998 48144384 - 47845764 48036425 - 6480464 12477932;11181995;19913121;20628086;20379614 442213 B0QZ29;B2RPC0;H0Y3Q6;Q6ZW05 ABBA01050605;AK123835;AK299301;AK300335;AL121973;AL139336;AL161622;AL353138;AMYH01016333;BC136779;BC137359;BC137364;CH471081;DC372324;DR761295;NM_001013732;NM_207499 AAI36780;AAI37360;AAI37365;BAC85703;BAG61315;BAG62081;EAX04325;NP_001013754;NP_997382;Q6ZW05 Hs.659409 1340102;1668672;1690650;1695902;1703540;1703836;1704426;1705408;1708386;1710488;1715743;1726607;1752175;1786020;1786156;2121916;2128127;2136237;2141916;2175743;2180754;2186878;5014051;5015619;5037552 1466;A004S46;AFMa191yf1;D11S3114;D2S263;D6S1471;D6S1669;D8S2278;D8S2279;G17054;G17065;G62537;RH119318;RH68022;RH93407;SHGC-106066;SHGC-155181;SHGC-78857;SHGC-79075;SHGC-79580;SHGC-82731;SHGC-82875;SHGC-82914;SHGC-83567;SHGC-86261 C6orf138;FLJ41841;dJ402H5.2 OTTHUMP00000197297;OTTHUMP00000197298;patched domain-containing protein 4;patched domain-containing protein C6orf138 APPROVED protein-coding ENSG00000244694 21345 18470 VALIDATED 1346483 PTF1A pancreas specific transcription factor, 1a This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008] 10 10 p12.2 23521466 23523187 + 23481460 23483181 + 633758;1580863;6480464;7240710 8703005 9851981;12185368;18834332;17928434;16354684;15543146;15164054;12617822;10768861;8861960;1720355;2612907;19650412;19741120;20668890;23339455 256297 Q7RTS3 ABBA01034469;AF181999;AL139281;AMYH01002186;AMYH01002187;BK000272;BM055347;CK904916;NG_009798;NM_178161 AAG09441;AAI72252;AAI72557;DAA01052;NP_835455;Q7RTS3 Hs.351503 5493093 UniSTS:484191 PTF1-p48;bHLHa29 OTTHUMP00000019309;bHLH transcription factor p48;class A basic helix-loop-helix protein 29;class II bHLH protein PTF1A;exocrine pancreas-specific transcription factor p48;p48 DNA-binding subunit of transcription factor PTF1;pancreas transcription factor 1 subunit alpha;pancreas-specific transcription factor 1a APPROVED protein-coding ENSG00000168267 23734 09526 607194;609069 REVIEWED 1342695 PTCRA pre T-cell antigen receptor alpha The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011] 6 6 6 p21.3 44435989 44445838 + 42991705 43001554 + 42883727 42893576 + 6480464;6484113;6907045 8760805;19527514;19019335;18818748;17823309;14500629;12477932;11927911;11891328;9842925;8618853;1979339;19966856;22795130 171558 Q6ISU1;Q6ZNR1 ABBA01050706;ABBA01050707;AF084941;AF101436;AF165312;AK130819;AK310559;AK312223;AL035587;AMYH01016309;AW014894;BC069336;BC100771;BC100772;BC100773;BC100774;BC153829;CH471081;NG_029636;NM_001243168;NM_001243169;NM_001243170;NM_138296;U36759;U38996 AAB06194;AAB18373;AAC83346;AAF21890;AAF89556;AAH69336;AAI00772;AAI00773;AAI00774;AAI00775;AAI53830;BAC85438;BAG35156;EAX04107;EAX04108;EAX04109;EAX04110;NP_001230097;NP_001230098;NP_001230099;NP_612153;Q6ISU1 Hs.169002 1848153;2109703 PTCRA__5607;RH46834 PT-ALPHA;PTA OTTHUMP00000016409;pT-alpha-TCR;pre T-cell antigen receptor alpha;pre-T cell receptor alpha chain;pre-T-cell receptor alpha chain APPROVED protein-coding ENSG00000171611 21290 08435 606817 REVIEWED 1351607 PTENP1 phosphatase and tensin homolog pseudogene 1 The phosphatase and tensin homolog (PTEN) gene encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. A highly homologous processed pseudogene of PTEN is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Apr 2013] 9 9 p21 33665438 33666649 - 33673502 33677418 - 1580863 16368877;12477932;11886535;10208437;9794233;9620558;9467947;9439675;9393738;9326929;21048031;20577206;23435381;22005521 11191 AB009903;ABBA01065042;AF017999;AF019083;AF023139;AF343912;AL356489;AMYH01019325;BC038293;BY797336;NG_001337;NR_023917 AAB70558;AAC52017;BAA24090 Hs.493716 1729081;2109709;2162662 PTEN_234;Pten;WI-18385 PTEN-rs;PTEN2;PTENpg1;PTH2;psiPTEN APPROVED pseudo ENSG00000237984 9589 613531 VALIDATED 1317384 PTDSS2 phosphatidylserine synthase 2 Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS2, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM, May 2009] 11 11 11 p15.5 510044 553690 + 440280 481387 + 450280 491387 + 1580863;6480464;6907045 15489334;19014349;17081983;14984733;12477932;11084049;10938271;22939629;21890473 81490 E9PLE4;E9PS47;Q9BVG9 ABBA01015185;ABBA01015186;AC137894;AC138230;AK311723;AL834357;AMYH01003286;BC001210;BC015702;CH471158;NM_030783 AAH01210;ABM82669;ABM85848;CAD39022;EAX02327;EAX02328;EAX02329;NP_110410;Q9BVG9 Hs.731700 2161907 STS-F09598 FLJ46373;PSS2 OTTHUMP00000147629;PSS-2;phosphatidylserine synthase 2;ptdSer synthase 2;serine-exchange enzyme II APPROVED protein-coding ENSG00000174915 15463 17927 612793 PROVISIONAL 1319019 PTDSS1 phosphatidylserine synthase 1 Phosphatidylserine (PS) accounts for 5 to 10% of cell membrane phospholipids. In addition to its role as a structural component, PS is involved in cell signaling, blood coagulation, and apoptosis. PS is synthesized by a calcium-dependent base-exchange reaction catalyzed by PS synthases (EC 2.7.8.8), like PTDSS1, that exchange L-serine for the polar head group of phosphatidylcholine (PC) or phosphatidylethanolamine (PE) (Sturbois-Balcerzak et al., 2001 [PubMed 11084049]).[supplied by OMIM, May 2009] 8 8 8 q22 93460160 93532736 + 97343343 97415950 + 97274167 97346774 + 1580863;6480464;6907045 19014349;15489334;12477932;11084049;10938271;7584026;1748687;20379614;19322201;21139048;21890473;21906983;21963094;23251661;22505724 9791 B4DE85;J3KNR6;P48651;Q9BUQ5 ABBA01037492;ABBA01037493;AK293036;AK293513;AMYH01018908;AP003465;BC002376;BC004192;BC004390;BC004502;CH471060;D14694;NM_014754 AAH02376;AAH04192;AAH04390;AAH04502;ABM82751;ABM85938;BAA03520;BAF85725;BAG56996;EAW91753;EAW91754;NP_055569;P48651 Hs.292579 1339210;1649768;1718841;1735758;1762561;1767359;1773479;2107535;2114328;2167729 D8S1369E;D8S1772;D8S2131;PTDSS1__6947;RH123124;RH25262;SHGC-146371;STS-D14694;WI-20923;WI-9368 KIAA0024;PSS1;PSSA OTTHUMP00000227218;PSS-1;phosphatidylserine synthase 1;ptdSer synthase 1;serine-exchange enzyme I APPROVED protein-coding 9587 17926 612792 PROVISIONAL 1349248 PTGDR prostaglandin D2 receptor (DP) This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 14 14 q22.1 51804181 51813192 + 52734431 52743442 + 1580863;2316816;6480464;6484113;7240710 19576888 7642548;19264973;19247692;19237393;19220773;19064572;18957281;18811623;18802357;18797183;18005048;17965752;17878378;17845306;17541272;17538632;17496729;17307163;17157653;16629782;15749909;15496624;15489334;15004188;12895603;12672054;12494276;12477932;12230502;12119603;12002745;11742277;11139429;10827082;8833158;1422574;19913121;20628086;20973774;21426314;19423540;19710676;19748656;20237496;20308056;20379614;20406964;20438785;21624751;12036966;21199159;21307858;21832049;21832046;21883277;21930295;22182808;15028279;20959461;23307871;23181793 5729 G3V5L3;Q13258 ABBA01018165;AK026202;AL365475;AMYH01005730;BC040968;CD013871;CH471078;DQ418808;EF577397;NG_012118;NM_000953;NM_001281469;U31098;U31099;U31332 AAC50176;AAC50177;AAC50178;AAH40968;ABD72608;ABQ52417;EAW65657;NP_000944;NP_001268398;Q13258 Hs.306831 1337101;1337718;1685297;1794812;2108409;2158299 D14S588;D14S603;PMC58788P1;PTGDR_8575;RH71220;RH92017 AS1;ASRT1;DP;DP1;MGC49004;PTGDR1 OTTHUMP00000178986;PGD receptor;PGD2 receptor;prostaglandin D2 receptor APPROVED protein-coding ENSG00000168229 9591 05254 604687;607277 REVIEWED 1323730 PTGDR2 prostaglandin D2 receptor 2 This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011] 11 11 q12-q13.3 60374974 60380020 - 60618398 60623444 - 1580863;5135015;5135020;5135019;5135018;5135021;5135022;5135017;6480464 21646789;19796209;19392992;18757520;19230460;19608418 9973380;10036181;19494281;19290788;19247692;19010788;18835884;18802357;18777142;17910949;17878378;17714552;17541272;17016057;16378605;16030019;15789622;15507393;15489334;15345705;15065763;14668348;12477932;12230502;11801628;11208866;23168411;19913121;20628086;19423540;20035740;20107720;20406964;20438785;19839971;20491797;21624751;18577758;2834384;20858065;22705147;22947041;21762224;22442685;22627365;21930295;20959461;23226366;21909091;22465717;22101342;23128233 11251 Q9Y5Y4 AB008535;ABBA01021516;AF118265;AF144308;AK291371;AK313849;AMYH01003668;AP000777;AY507142;BC096841;CH471076;NG_016170;NM_004778 AAD21055;AAD34539;AAH96841;AAR92484;BAA74518;BAF84060;EAW73902;NP_004769;Q9Y5Y4 Hs.299567 1680693;2144223;2151624 IB1021;RH11821;RH67900 CD294;CRTH2;DL1R;DP2;GPR44 G protein-coupled receptor 44;G-protein coupled receptor 44;OTTHUMP00000236889;chemoattractant receptor homologous molecule expressed on T helper type 2 cells;chemoattractant receptor-homologous molecule expressed on TH2 cells;prostaglandin D2 receptor 2;putative G-protein coupled receptor 44 APPROVED protein-coding ENSG00000183134 4502 16075 604837 REVIEWED 1352492 PTER phosphotriesterase related 10 10 10 p12 16412177 16488943 + 16518973 16595742 + 16478942 16555744 + 1580863;6480464 19151714;15489334;14702039;12477932;9925913;9237666;20571754;20797317;17207965;20712903;22939629;16344560;21139048;21906983;22505724 9317 Q96BW5 ABBA01034568;ABBA01034569;ABBA01034570;ABBA01034571;AF212237;AK095486;AK314910;AL119009;AL360230;AMYH01002065;AW451393;AW451917;BC015092;BC050411;BU172463;BX648556;CH471072;DA146922;EF445015;NM_001001484;NM_001261836;NM_001261837;NM_001261838;NM_030664 AAH15092;AAH50411;AAK14923;ACA06055;ACA06056;ACA06057;ADQ33070;BAG37422;BAG53067;EAW86226;EAW86227;EAW86228;EAW86229;EAW86230;NP_001001484;NP_001248765;NP_001248766;NP_001248767;NP_109589;Q96BW5 Hs.444321;Hs.741924;Hs.743677 1340439;1655529;1754199;1768195;2218324 C1QL3_4481;D10S674;RH48169;SHGC-132234;STS-AA018608 HPHRP;RPR-1 HPHRP;OTTHUMP00000019213;OTTHUMP00000019214;parathion hydrolase-related protein;phosphotriesterase-related protein;resiniferatoxin-binding, phosphotriesterase-related protein-coding ENSG00000165983 9590 16061 604446 VALIDATED 69119 PTEN phosphatase and tensin homolog This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. [provided by RefSeq, Jul 2008] 10 10 q23.3 89613175 89718512 + 89623195 89728532 + 1581280;1581281;1581282;1302554;1302552;1302553;1302555;1302589;1300048;1302564;1302582;1302585;2290476;2291891;2289817;2292546;2301729;2292501;2292538;2292498;2292519;2292499;2292549;2313763;2292497;2292502;2289828;2298701;2292500;2292514;2292521;2290458;2292513;2292510;2292496;2292506;2292507;2292508;2292512;2292517;2292522;2292543;1643331;2292515;2292548;4143515;2326139;5133242;6480464;5490965;6484113;6907045;7240710;1358425 14525948;15929827;11448956;11726926;9697695;11175795;15199412;12563260;11691952;12297047;14747659;16847462;18190825;17418409;16804083;18336616;17727244;17239858;18000229;18421022;17919877;16188065;18955974;18268330;17700571;17349568;17672936;17886097;12055674;18385463;17641274;15821467;11854455;18381417;17317031;17163422;17097286;16984224;9399897;18166358;16961925;17681738;9671402;16474401;19078924;18008377;20951313;19506583;12414116 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5728 F6KD01;P60484 AA017584;ABBA01021960;AC063965;AF000734;AF067844;AF143315;AI825848;AK021619;AK024986;AK124525;AK130076;AK313581;AMYH01002932;BC005821;BG772190;CA944942;CH471066;CR450306;DQ073384;HM849628;HM849629;HM849630;HM849631;HM849634;JA692802;JA902567;JB074276;JF268690;NG_007466;NM_000314;U92436;U93051;U96180 AAB66902;AAC08699;AAC51182;AAC51183;AAD13528;AAD38372;AAH05821;AAY57327;ABM83530;ABM86488;ABW03514;ADM26753;ADM26754;ADM26755;ADM26756;ADM26759;ADZ48535;BAG36351;CAG29302;CCF23296;CCV19970;CCV66764;EAW50172;EAW50173;EAW50174;EAW50175;NP_000305;P60484 Hs.500466 1336760;1647117;1653147;1656629;1679181;1687562;1700136;1715963;1718375;1729081;1749385;1792576;1793202;1795036;1795038;1795040;2109709;2114871;2162662;2191277;5113962;5122970 AFMA086WG9;D10S221;D10S610;G19918;MARC_17017-17018:1023291848:1;PMC154149P1;PMC20246P1;PMC88770P1;PMC88770P2;PMC88770P3;PTEN_234;Pten;RH103681;RH122724;RH122960;RH66859;RH79866;RH92455;SHGC-111133;STS-H71499;STS-W73720;WI-18385 10q23del;BZS;CWS1;DEC;GLM2;MGC11227;MHAM;MMAC1;PTEN1;TEP1 MMAC1 phosphatase and tensin homolog deleted on chromosome 10;OTTHUMP00000020032;mutated in multiple advanced cancers 1;phosphatase and tensin homolog;phosphatase and tensin-like protein;phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 2314830 INSUL25_H APPROVED protein-coding 9588 03431 153480;155600;158350;176807;188470;275355;276950;601728;605309;607174;608089;613028 REVIEWED 6480972 PTGER4P3 prostaglandin E receptor 4 (subtype EP4) pseudogene 3 9 68371630 68372011 - 100874378 ABBA01008945;AL772155;AMYH01021214;NG_032202 pseudo 38498 INFERRED 1347459 PTGER4P1 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 9 45362482 45362931 + 5735 AL845472;AMYH01020511;NG_032179 pseudo 9597 INFERRED 737496 PTGDS prostaglandin D2 synthase 21kDa (brain) The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008] 9 9 q34.2-q34.3 138991777 138996015 + 139871956 139876194 + 729554;1580863;1642582;1300048;1642584;1642580;1642581;6480464;6907045 1902577;15325247;11882588;16384826;15970590 7692978;9065498;19276290;19132521;19131342;19124506;19015601;18830622;18817855;18802357;18552976;18448869;18349703;18077799;17852800;17588556;17574780;10781097;10462696;9844724;9475419;9405674;9162076;8889548;8761996;8599604;8336140;8336134;8300593;8253813;8163486;7689714;1726844;1385416;17532558;17499437;17404210;17307169;17230501;17093043;16713569;16335952;16303743;16199891;15862967;15718494;15489334;15453544;15164053;15081423;12900000;12477932;12358155;11751991;11669522;11287775;11068878;22677050;19913121;20628086;20596612;20144489;20029029;18436228;19094210;19578796;19598000;19949816;19958607;20008150;20403807;21104585;21163901;20667974;21192373;22960220;21271676;21325722;22299829;22745274;21603615;21745310;19878301;21078624;22664386;22248185;22342541;22498882;21501068;23291589;23328707;12627223;20706999;21988832;22818840;22989106;22370065;23076868 5730 F8W7I2;H0Y4L4;H0Y5A1;P41222;Q5SQ11;Q5SQ12 AA621632;ABBA01022734;AI659247;AK075333;AK312817;AL807752;AMYH01021881;AMYH01021882;AY026356;BC005939;BC041463;BG037037;BM686612;BT019921;BT019922;CH471090;DQ297141;M61900;M98538;M98539;NM_000954 AAA36494;AAB51074;AAH05939;AAK07679;AAV38724;AAV38725;ABB84464;BAG35674;BAG52113;EAW88321;EAW88322;EAW88323;NP_000945;P41222 Hs.446429 1336264;2116388;5016846 D9S905;RH93947;STS-M98539 L-PGDS;LPGDS;PDS;PGD2;PGDS;PGDS2 OTTHUMP00000022638;OTTHUMP00000022640;OTTHUMP00000022642;PGD2 synthase;beta-trace protein;cerebrin-28;glutathione-independent PGD synthase;glutathione-independent PGD synthetase;lipocalin-type prostaglandin D synthase;lipocalin-type prostaglandin-D synthase;prostaglandin D synthase;prostaglandin d2 synthase;prostaglandin-D2 synthase;prostaglandin-H2 D-isomerase APPROVED protein-coding ENSG00000107317 9592 08904 176803 REVIEWED 733054 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008] 19 19 p13.1 14444278 14447174 - 14583278 14586174 - 1580863;6480464 8253813;19336370;19064572;18516068;17906615;17877755;17611676;17525067;17496729;16670773;16393343;16331686;15886234;15855163;15489334;14744769;14562138;12642666;12477932;11951086;11235015;7938166;7759114;1160156;12841871;12788892;22276108;19913121;20587336;20628086;20673868;19625175;20178602;20452482;20647315;16754659;21052031;22924768;20858737;21447366;22110249;22474323;21813027;22162473;22555372 5731 P34995;Q05C32 AB065464;ABBA01029666;AC008569;AMYH01009532;AMYH01009533;AY275470;BC029768;BC039034;BC051286;CH471106;L22647;NM_000955 AAC37539;AAH29768;AAH39034;AAH51286;AAP32302;BAC05723;EAW84422;NP_000946;P34995 Hs.159360 1677120 RH71361 EP1 OTTHUMP00000037581;PGE receptor EP1 subtype;PGE receptor, EP1 subtype;PGE2 receptor EP1 subtype;prostaglandin E receptor 1, subtype EP1;prostaglandin E2 receptor EP1 subtype;prostaglandin e receptor 1;prostanoid EP1 receptor APPROVED protein-coding ENSG00000160951 9593 08903 176802 REVIEWED 1342841 PTGER4P2 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 9 q13 66494269 66503030 + 6480464 12477932 442421;5736 ABBA01039238;ABBA01039239;AL512625;AMYH01021067;BC042539;BC068605;BC104192;BC104193;BC112986;BC112987;NR_024496 Hs.585349;Hs.741986 PTGER4P2-CDK2AP2P2 pseudo 9598 VALIDATED 1342884 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009] 14 14 q22 51850863 51865074 + 52781016 52795324 + 1580863;6480464;7240710 10462542;19336370;19273625;19169646;19050969;19019335;18989535;18829529;18818748;18792407;18790761;18666211;18537828;18319253;18296611;18254372;18086382;18083712;18005048;17877755;17728378;17611676;17555711;17533365;17525067;17496729;17384145;17290397;17078003;17028262;16879213;16607275;16461132;16267225;15970595;15539459;15489334;15347673;15044590;14699136;14562138;12477932;12466123;12228765;14517215;12933667;12788892;12743126;12149218;12051958;11951086;11834444;11093764;10521663;8889548;8250933;8163486;8078484;7759114;20587336;20628086;20673868;19913121;20551148;19407222;19527514;19542367;19582788;19782748;19789190;19808686;20018632;20086108;20200425;20237496;20452482;20304053;20516073;20484658;20347274;20140262;21052031;20382140;20357748;12036966;21081469;20705717;21111772;20889571;22929011;23048027;21209948;21419570;22580611;22706114;23069790;22099390;22276108;22244821;22329897;22551900 5732 G3V2Y6;P43116 ABBA01018165;AF134202;AL365475;AMYH01005730;AY275471;BC093927;BC093929;BE739744;BF029797;BM986745;BQ014559;CF132756;CH471078;CN484094;CR977661;DQ398948;NG_013082;NM_000956;U19487;X83868 AAA61681;AAD44177;AAH93927;AAH93929;AAP32303;ABD48958;CAA58749;EAW65652;EAW65653;EAW65654;NP_000947;P43116 Hs.2090 1721653;1798032;2167808 G59837;PTGER2_2277;SHGC-12634 EP2 OTTHUMP00000178987;PGE receptor EP2 subtype;PGE2 receptor EP2 subtype;prostaglandin E2 receptor EP2 subtype;prostanoid EP2 receptor APPROVED protein-coding ENSG00000125384 9594 08905 176804;208550 REVIEWED 731378 PTGER3 prostaglandin E receptor 3 (subtype EP3) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 1 1 p31.2 71090624 71286079 - 71318036 71513491 - 737727;6480464 9751056 10336471;10947062;8307176;19527514;19165680;19064572;19019335;19012178;18996083;18818748;18652829;18632791;18573679;18296611;18023986;18005048;17877755;17644362;17496729;16710414;16707103;16274459;15528329;15489334;15304361;15290741;14699136;14562138;12788892;12743126;12699873;12642666;12477932;11235015;9073510;9065782;8135729;8117308;8075855;7981210;7883006;7759114;7476918;2834384;19913121;20587336;20628086;20673868;20947153;21052031;20503412;18577758;20140262;20516073;17207965;20452033;19799610;20110411;20237496;20379614;20452482;9154343;21925169;21424266;22162473;22421267;23349487;22110249;21813027;21966456;22342278;22397921;22276108;23406763;23382691;22870195;22915243 5733 B1AK19;O00325;P43115;Q147X8;Q5CZ57 AB451481;ABBA01074473;ABBA01074474;ABBA01074475;ABBA01074476;AI273491;AK290634;AK315825;AL031429;AL050227;AL158087;AL700981;AMYH01000701;AY387856;AY429108;BC024229;BC118578;BC118659;CH471059;CS173017;D38297;D38298;D38299;D38300;D38301;D86096;D86097;D86098;EF534325;JA738755;JA738757;JA738759;JA738761;JA738763;JA738765;JA738767;L26976;L27488;L27489;L27490;L32660;L32661;L32662;NG_029509;NM_001126044;NM_198714;NM_198715;NM_198716;NM_198717;NM_198718;NM_198719;NR_028292;NR_028293;NR_028294;S68874;S68875;S69200;S69326;U13214;U13215;U13216;U13217;U13218;X83857;X83858;X83859;X83860;X83861;X83862;X83863 AAA21130;AAA21131;AAA21132;AAA21133;AAA21134;AAA60076;AAA68191;AAA68192;AAA68193;AAB29854;AAB29855;AAB30208;AAC13372;AAC13373;AAC13374;AAD14026;AAH24229;AAI18579;AAI18660;AAQ90021;AAR07903;ABS57464;ADQ32123;BAA07416;BAA07417;BAA07418;BAA07419;BAA07420;BAA19949;BAA19950;BAA19951;BAA19952;BAA19954;BAA19955;BAA19956;BAA19957;BAA19958;BAA19959;BAF83323;BAF98716;BAG70295;CAA58737;CAA58738;CAA58739;CAA58740;CAA58741;CAA58742;CAA58743;CAJ33690;CCF77030;CCF77031;CCF77032;CCF77033;CCF77034;CCF77035;CCF77036;EAX06436;EAX06437;EAX06438;EAX06439;EAX06440;EAX06441;EAX06442;EAX06443;EAX06444;EAX06445;EAX06446;NP_001119516;NP_942007;NP_942008;NP_942009;NP_942010;NP_942011;NP_942012;P43115 Hs.445000 1340816;1342015;1654345;1707464;1718445;1775681;1793168;2125937;2125939;2139532;2163443;2185433;7186209 AL009426;D1S1178;D1S192;D1S2139;D1S3321;D1S3367;D1S3370;PMC197251P3;RH122423;SHGC-84527;STS-Z40794;WI-22460 EP3;EP3-I;EP3-II;EP3-III;EP3-IV;EP3e;MGC141828;MGC141829;MGC27302;PGE2-R OTTHUMP00000011031;OTTHUMP00000011032;OTTHUMP00000011033;OTTHUMP00000011034;OTTHUMP00000011035;PGE receptor EP3 subtype;PGE receptor, EP3 subtype;PGE2 receptor EP3 subtype;PGE2-R;prostaglandin E receotor EP3 subtype 3 isoform;prostaglandin E2 receptor EP3 subtype;prostaglandin e receptor 3;prostaglandin receptor (PGE-2);prostanoid EP3 receptor APPROVED protein-coding ENSG00000050628 9595 08906 176806 REVIEWED 6483690 PTGES3L prostaglandin E synthase 3 (cytosolic)-like 17 q 41120105 41132545 - 11181995;14702039;16344560 100885848 B9A003;C9JG77;E9PB15;H7C1Q7;K7N7A2 ABBA01006395;AC055866;AK056965;AK093402;AMYH01008400;BG776211;BU631064;CH471152;DA900052;DC329857;NM_001142653;NM_001142654;NM_001261430 E9PB15;EAW60905;NP_001136125;NP_001136126;NP_001248359 Hs.317403 1690628;5015961 D15S1477;RH99229 FLJ32403;FLJ36083 prostaglandin E synthase 3 (cytosolic)-like;prostaglandin E synthase 3-like;putative protein PTGES3L protein-coding ENSG00000267060 43943 VALIDATED 736498 PTGER4 prostaglandin E receptor 4 (subtype EP4) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008] 5 5 p13.1 40715789 40729594 + 40680032 40693837 + 1581283;1581284;1580863;6480464;5147913;6483518;6483535;6483551;6483532;6483525;6483526;6483537;6483524;6483530 15201706;16020747;20860016;22570740;21383594;20833794;21818367;22044482;21965326;21371033;22198478;21743469 8163486;8862514;19453261;19444759;19336370;19273625;19227010;18829529;18802112;18797183;18587394;18516068;18319253;18270204;18254372;18086382;18083712;18005048;17877755;17684544;17631291;17611676;17447842;17290397;17130837;17046175;16857763;16574793;16428339;15970595;15528329;15489334;15347673;15290741;15100359;14709160;14517215;12566441;12477932;12228765;12215436;12149218;11951086;11948128;11876748;11782353;11706038;11597569;11470276;17525067;17496729;11423555;11344234;11093764;10880739;9214685;8855294;8661119;8250933;8078484;7759114;21833088;19913121;20549515;20587336;20628086;20673868;20551148;21071691;20484658;19760754;20846217;20962850;21052031;21072187;21102463;12036966;20561984;19407222;19407341;19445930;19525953;19558693;19879194;20014019;20018632;20086108;20145136;20222910;20237496;20452482;20353998;20503412;21297633;21081469;21111772;20970516;22704539;23300802;21365278;21589857;21723865;22037551;21681739;21424266;21600299;21832044;16424369;21890473;22080750;22199300;22276108;22353936;21683675;22412388;22570697;22362924;22924768;22580611;22695889;22706114;22936669;23128233;22732652 5734 A0PJF5;P35408 ABBA01024220;AC093264;AMYH01015049;AY429109;BC027934;BC101534;BC113523;BM312677;BQ029720;CD000197;CH471119;D28472;DQ400918;JA738687;L25124;L28175;NM_000958;X97873 AAA36434;AAA36438;AAH27934;AAI01535;AAI13524;AAR07904;ABD48960;ADR83198;BAA05834;CAA66463;CCF76996;EAW55996;EAW55997;NP_000949;P35408 Hs.199248 1785660;1794314;1796586;1853471;2146623;2164195;2167742 D5S1920;PMC311006P6;PTGER4_1066;SHGC-64757;STS-L25124;STS-N31927;STS-N92884 EP4;EP4R;MGC126583 OTTHUMP00000119996;PGE receptor EP4 subtype;PGE receptor, EP4 subtype;PGE2 receptor EP4 subtype;prostaglandin E2 receptor EP4 subtype;prostanoid EP4 receptor APPROVED protein-coding ENSG00000171522 9596 03350 601586 REVIEWED 6480561 PTGES3P1 prostaglandin E synthase 3 (cytosolic) pseudogene 1 1 p22.2 89568802 89570637 - 11181995 284672 ABBA01045589;AC104459;AMYH01000777;CH471097;NG_007034 EAW73147 2123227 SHGC-75126 PTGES3P pseudo 43824 INFERRED 6480562 PTGES3P3 prostaglandin E synthase 3 (cytosolic) pseudogene 3 4 q33 170712300 170712987 - 11181995 441050 ABBA01070343;AC079768;AC106878;AMYH01014704;CH471056;NG_007035 EAX04779 PTGES3P pseudo 43823 INFERRED 2290200 PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) 9 9 9 q34.11 101542737 101544842 + 129930433 129932728 + 130890808 130892913 + 14702039;12477932 389791 Q8N1Y9 ABBA01043867;AK094537;AL590708;AMYH01021741;BC132745;BC132747;BC141829;BC151210;CH471090;NG_012488;NR_024425 EAW87747;Q8N1Y9 Hs.632678 APPROVED miscrna 48711 18396 VALIDATED 69032 PTGES prostaglandin E synthase The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008] 9 9 q34.3 131540433 131555165 - 132500615 132515344 - 1580863;1300048;2300080;2300083;2300079;2300088;2300094;2300093;2300107;2300116;2300106;2300089;1642457;2300085;2300108;2300087;5135302;6480464;6907045 17107625;16353170;17295901;14499677;16864802;17530714;14684572;12431630;15044444;11592775;16621493;16210398;12707354;14871981;20592629 22308510;22081067;10377395;19527514;19428335;19347995;19343046;19336370;19276290;19124506;19115247;19114118;19053751;19046748;19035518;19019335;19017494;18984580;18818748;18555503;18479189;18050215;18038187;17968936;17928629;17708577;17707523;17697149;17696939;17680542;17505022;16952028;16891468;16598755;16212965;15870920;15868626;15789615;15489334;15379214;15234907;15188353;15167446;15023995;14722058;14702039;14671209;14630996;14558087;12860389;12835414;12835322;12818425;12721500;12672824;12664599;12626523;12519887;12512699;12477932;12460774;12414902;12145315;10760517;10091672;9743208;9305847;8253813;8163486;19913121;20628086;20628624;19399588;19412621;19802674;19846775;20042640;20086108;20453000;20939114;20140262;21052031;20635443;20605783;20369883;21277633;18682561;21239760;18631945;21907186;21354147;21277871;21448233;21805999;21925143;21743491;21645444;21842276;22588264;22260630;22137787;22342541;21963094;23252918;22511203;22822059 9536 O14684;Q9GZZ5 ABBA01043946;AF010316;AF027740;AF217965;AF217972;AJ271802;AK127663;AK311947;AL590369;AL592219;AMYH01021764;BC008280;BC018201;BM550187;BQ927197;BX357872;BX396892;CB960064;EF543149;NM_004878 AAB82299;AAC39534;AAG17208;AAG17215;AAH08280;ABQ01233;BAG34888;CAB72099;NP_004869;O14684 Hs.146688 1798034;5022651;5037552;5118802 D11S2921;D11S3665;D8S2279;PTGES_2305 MGC10317;MGST-IV;MGST1-L1;MGST1L1;MPGES;PGES;PIG12;PP102;PP1294;TP53I12;mPGES-1 MGST1-like 1;OTTHUMP00000022345;glutathione S-transferase 1-like 1;microsomal glutathione S-transferase 1-like 1;microsomal prostaglandin E synthase 1;microsomal prostaglandin E synthase-1;p53-induced apoptosis protein 12;p53-induced gene 12 protein;prostaglandin E synthase;tumor protein p53 inducible protein 12 APPROVED protein-coding ENSG00000148344 9599 05528 605172 REVIEWED 6483691 PTGES3L-AARSD1 PTGES3L-AARSD1 readthrough This locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, May 2012] 17 q 41102543 41132545 - 11181995;11230166;12477932;14702039;17974005;20967262;7545954 100885850 C9J5N1;C9JUA3;H7C054;L7N2F6;Q9BTE6 ABBA01006395;ABBA01006396;ABBA01006397;ABBA01006398;AC055866;AF039235;AI312767;AK094084;AK295447;AMYH01008398;AMYH01008399;AMYH01008400;BC004172;BC019324;CH471152;NM_001136042;NM_025267 AAH04172;AAH19324;ACE86487;ACE87168;BAG52811;BAG58385;EAW60903;EAW60904;EAW60906;NP_001129514;NP_079543 Hs.317403 FLJ36765;FLJ56441;MGC2744;MGC4371 PTGES3L-AARSD1 protein protein-coding ENSG00000108825 43946 VALIDATED 733934 PTGFRN prostaglandin F2 receptor inhibitor 1 1 p13.1 117254212 117334495 + 117452689 117532972 + 69949;1580863;6480464 8655148 11278880;17960739;17407154;16690612;16537545;16303743;14702039;12477932;11673522;11087758;10718198;9643346;8804121;19703604;19850283;20932654;22939629;21206492;22268729 5738 Q9P2B2 AB014734;AB037857;ABBA01068496;ABBA01068497;AK001863;AK024785;AK074637;AL157904;AL445231;AMYH01000972;BC022235;BC042164;BC063317;BC098142;BC114520;BC139718;BC152454;CH471122;NM_020440 AAH98142;AAI14521;AAI39719;AAI52455;AAI68364;BAA92674;BAB20271;BAC11104;EAW56662;EAW56663;NP_065173;Q9P2B2 Hs.418093 1644028;1654972;1662156;1674725;1675375;1772991;1856360;1857189;1858391;2136071 D1S2198;D1S2203;D1S3546;G34883;RH91725;SGC33573;SHGC-75379;SHGC-75388;SHGC-75389;U26664 CD315;CD9P-1;EWI-F;FLJ11001;FPRP;KIAA1436;SMAP-6 CD9 partner 1;OTTHUMP00000013816;glu-Trp-Ile EWI motif-containing protein F;prostaglandin F2 receptor negative regulator;prostaglandin F2-alpha receptor regulatory protein;prostaglandin F2-alpha receptor-associated protein APPROVED protein-coding ENSG00000134247 9601 03124 601204 PROVISIONAL 1321966 PTGES2 prostaglandin E synthase 2 The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009] 9 9 q34.11 129922793 129930533 - 130882972 130890741 - 1580863;6480464;6484113;6907045 19064572;17979097;17697149;17566096;15231747;11256614;19371221;19347995;19336370;17266179;16714329;16381901;16341674;15879117;15489336;15489334;15164053;14702039;12835322;12804604;12477932;12050152;11866447;11847219;11076863;8300593;8125298;19268562;19412621;19664621;20877624;22939629;17314511;20000738;21139048;21890473;21906983 80142 A6NHH0;B3KPZ2;B4DWP1;Q9H7Z7 ABBA01043867;AK024100;AK057049;AK223520;AK301618;AL525982;AL590708;AMYH01021740;AMYH01021741;AW073370;BC009397;BC009456;BC011613;BE797008;BG481657;BG823488;BI761840;BI826720;BM739176;BQ889675;BX493085;CH471090;NG_012488;NM_001256335;NM_025072;NM_198938 AAH09397;AAH09456;AAH11613;ABM82830;ABM86016;BAB14826;BAD97240;BAG51854;BAG63103;CAL37443;EAW87741;EAW87742;EAW87743;EAW87744;EAW87745;EAW87746;NP_001243264;NP_079348;NP_945176;Q9H7Z7 Hs.495219 1758145;2119327 RH68883;SHGC-147521 C9orf15;FLJ14038;GBF-1;GBF1;MGC11289;PGES2;mPGES-2 GATE-binding factor 1;OTTHUMP00000022231;OTTHUMP00000022232;OTTHUMP00000215363;gamma-interferon-activated transcriptional element-binding factor 1;membrane-associated prostaglandin E synthase 2;microsomal prostaglandin E synthase 2;microsomal prostaglandin E synthase-2;prostaglandin E synthase 2 APPROVED protein-coding ENSG00000148334 17822 07458 608152 REVIEWED 737369 PTGFR prostaglandin F receptor (FP) The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p31.1 78729316 78778974 + 78956728 79006386 + 1580863;6480464 8300593;9918852;19527514;19347709;19336370;19280705;19019335;18818748;18703533;18587449;18316157;17582204;17496729;17478553;17467803;16911823;16855208;16710414;16378246;16096282;16061484;15748887;15489334;15118249;15028279;14984197;14764825;14746914;12519077;12477932;11951086;9341156;9235889;8253813;8163486;7988697;7759114;19913121;20628086;20140262;20519365;16754659;18577758;20536573;10575000;15651980;19289115;19782748;19819266;20008143;20092633;20237496;20379614;20816914;22919060;18508192;23356224;22060278;22182935;22318606;23382691 5737 F2Z2Z6;P43088 AB041713;AB201108;ABBA01074390;ABBA01074391;AF004021;AK292845;AK312816;AL136324;AMYH01000724;AY337000;AY485530;BC112965;BG771316;BQ897935;CA429969;CD013876;CH471059;CS008570;CS008582;H02113;L24470;NM_000959;NM_001039585 AAA17684;AAB63152;AAI12966;AAQ76788;AAR84381;ABM81883;ABM85046;BAA94756;BAE03222;BAF85534;CAI53641;CAI53647;EAX06350;EAX06351;NP_000950;NP_001034674;P43088 Hs.654365 1339624;1759289;1770972;1779832;1792942;1857627;2136048;2182346;5014649 D1S2876;G15961;G16225;PMC170950P7;SHGC-12571;SHGC-150722;SHGC-153836;SHGC-75020;SHGC-75045 FP;MGC120498;MGC46203 OTTHUMP00000011218;OTTHUMP00000011219;OTTHUMP00000037508;PGF receptor;PGF2 alpha receptor;PGF2-alpha receptor;prostaglandin F2 alpha receptor;prostaglandin F2-alpha receptor;prostaglandin f receptor;prostaglandin receptor (2-alpha);prostanoid FP receptor APPROVED protein-coding ENSG00000122420 9600 08988 600563 REVIEWED 1606321 PTGES3 prostaglandin E synthase 3 (cytosolic) 12 12 q13.3 55343649 55368156 - 57057125 57082078 - 4892102;5144125;2300108;5688064;5688067;5688057;5688075;6480464 18451092;16610357;12707354;20847343;19347995;16192391;14736553 22074947;10922363;12135483;12077419;8114727;19254810;17697149;17081983;16916647;16809759;16807684;16403413;16094384;15489334;14702039;14507910;12477932;11879970;11812147;11809754;11531413;11447118;11274138;11259606;11056392;11013261;10811660;10691735;10581266;10207098;10095121;9727490;9261129;9148915;8889548;9222609;22759865;12853476;17353931;19740745;19751963;19996313;20159553;20385819;16087666;21183720;15916966;9817749;20039095;22863883;22939629;22899854;19001348;18029348;19167051;21853119;22277657;21139048;21502318;21890473;21906983;22315411;10197982;19875381;14761955;15319539;18388150;20959453;21691801;22677230;17110338;19738201;21963094;21988832;23000965;23022381;23413029;23438482;20661446;22174317;22190034;22505724;22729780;22139419 10728 B4DDC6;B4DHP2;B4DP11;B4DP21;Q15185 ABBA01008433;AC117378;AK098214;AK291945;AK293139;AK295208;AK298147;AK298160;AL603017;AMYH01004506;AMYH01004507;AMYH01004508;BC003005;BC021167;BU732883;CH471054;L24804;NM_006601;Z69891 AAA18537;AAH03005;AAH21167;ABM87709;ABW03847;BAF84634;BAG53594;BAG56687;BAG58204;BAG60423;BAG60433;EAW96953;EAW96954;EAW96955;EAW96956;EAW96957;EAW96958;NP_006592;Q15185 Hs.50425 1672160;1681584;2123227;2129790;2137837;2189539;5015961;5017607 D15S1477;G29926;PTGES3;RH45308;RH92953;SHGC-23727;SHGC-75126;UniSTS:234880 P23;TEBP;cPGES Hsp90 co-chaperone;OTTHUMP00000243285;OTTHUMP00000243286;OTTHUMP00000243287;OTTHUMP00000243288;OTTHUMP00000243289;cytosolic prostaglandin E synthase;cytosolic prostaglandin E2 synthase;progesterone receptor complex p23;prostaglandin E synthase 3;telomerase-binding protein p23;unactive progesterone receptor, 23 kD protein-coding ENSG00000110958 16049 06138 607061 VALIDATED 1322052 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008] 19 19 q13.3 51815565 51820194 - 47123725 47128354 - 1580863;6480464;6484113 7512962;19118563;19058789;18832025;18755267;18573679;18551041;18323528;18162607;18042246;18005048;17704830;17496729;17481829;17015447;16942748;16885208;16527812;16399867;16114876;15979846;15489334;15471868;15469414;15248755;15194446;15056772;15053924;12850828;12664600;12488443;12481546;12477932;12446735;12119468;12016224;11895442;11854299;11545623;11502878;11443126;10889200;10446129;9853255;9722557;9264479;9242534;9185236;8889548;7938166;7923647;7759114;16373414;7665161;7514139;22889411;21223948;19913121;20628086;21189259;20522800;21052031;20357748;20395296;16344560;12036966;18240029;20070947;20237496;15980156;18577758;22336225;20482519;22381139;23162015;22969152;19781057;21653824;22159995;22380928;23128233;22884631 5739 M0QXV5;M0QZI2;M0QZW0;P43119 ABBA01040981;AC093503;AK315278;AMYH01009868;AY242134;BC075814;BC110342;BQ185457;CH471126;CQ834246;D25418;D29634;D38127;DA652875;L29016;NM_000960 AAA36448;AAH75814;AAI10343;AAO92301;BAA05008;BAA06110;BAA07325;BAG37688;CAH05338;EAW57432;EAW57433;NP_000951;P43119 Hs.458324 1643784;1646500 D19S838;D19S985 IP;MGC102830;PRIPR PGI receptor;PGI2 receptor;prostacyclin receptor;prostaglandin I2 receptor;prostanoid IP receptor APPROVED protein-coding ENSG00000160013 9602 08959 600022 REVIEWED 736622 PTGIS prostaglandin I2 (prostacyclin) synthase This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008] 20 20 q13.13 47553818 47618114 - 48120411 48184707 - 1580667;1580695;1298040;1580863;1300048;6480464;6907045;7240710 15684702;12372404 15115769;8812456;19336370;19327107;19276290;19265782;19187034;19147528;19124506;19065539;19064572;19056482;19046748;18814254;18081314;17635855;17374734;17303142;17221326;17210107;17070428;16537708;16406803;16081819;16007128;15489334;15182267;15128046;14702039;12924623;12751759;12741817;12664597;12562775;12477932;12428676;12414902;12414894;12213900;12193162;12040339;11924728;11780052;11368458;20357747;11339822;11281454;11130769;9367522;8831668;8630042;8185632;19913121;20628086;21052031;20348234;19040046;19534932;19578796;19719985;19789190;20159982;20346360;20453000;20452033;21832049;11551955;22072641;22109564;22219064;17020766;21035466 5740 Q16647;Q6LEN2 ABBA01052747;ABBA01052748;ABBA01052749;AF297048;AF297049;AF297050;AF297051;AF297052;AK055640;AL118525;AMYH01011967;BC101809;BC101811;BC143381;BX640942;CH471077;D38145;D83402;D84124;NG_007940;NM_000961 AAG31781;AAG31782;AAG31783;AAG31784;AAG31785;AAI01810;AAI01812;BAA07343;BAA11910;BAA28219;EAW75655;NP_000952;Q16647 Hs.302085 1682872;1712254;1774461;1792724;2114665;2124371;2185491;5014051;5015861;5022200;5022578;5024756;5037552;5109281;7185938 D10S16;D1S1423;D1S1425;D8S2278;D8S2279;G54035;L18426;PMC15869P2;RH66622;RH79833;RH80030;STS-D38145;WI-14359;WI-9354 CYP8;CYP8A1;MGC126858;MGC126860;PGIS;PTGI OTTHUMP00000031777;cytochrome P450, family 8, subfamily A, polypeptide 1;prostacyclin synthase APPROVED protein-coding ENSG00000124212 9603 09046 145500;601699 REVIEWED 1321465 PTGR2 prostaglandin reductase 2 This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 14 14 14 q24.3 54355472 54389115 + 73388424 73421915 + 74318534 74352168 + 1580863;6480464 18029348;19000823;18497997;17449869;15489334;15342556;15004468;14702039;12477932;17207965;20877624;22998775 145482 G3V288;G3V3C1;Q8N8N7 ABBA01030742;ABBA01030743;AC005520;AK096410;AK309188;AK311280;AMYH01005849;AY346133;AY424308;BC059364;BP357520;BU616297;BX641118;CH471061;DR158023;NM_001146154;NM_001146155;NM_152444 AAH59364;AAR05101;AAR82927;ADQ32982;BAC04781;CAE46055;EAW81132;EAW81133;EAW81134;EAW81135;NP_001139626;NP_001139627;NP_689657;Q8N8N7 Hs.632344 1651461;1656561;1737045;2135657;2138003;2164774;2165566;2218884;5015861;5022588;5118576;7185938 D10S16;D11S2791;D11S3430;D14S966;D5S1597E;G35825;G36347;G38098;RH11307;RH77867;ZADH1__4918 DKFZp686P10120;FLJ39091;FLJ99229;PGR2;ZADH1 15-oxoprostaglandin 13-reductase;15-oxoprostaglandin-delta13-reductase;OTTHUMP00000245588;OTTHUMP00000245589;OTTHUMP00000245591;OTTHUMP00000245594;PRG-2;prostaglandin reductase 2;zinc binding alcohol dehydrogenase, domain containing 1;zinc-binding alcohol dehydrogenase domain-containing protein 1 APPROVED protein-coding ENSG00000140043 20149 09782 608642 REVIEWED 732819 PTGR1 prostaglandin reductase 1 This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 9 9 9 q31.3 84811079 84861206 - 113365073 113401532 - 114312002 114362135 - 1580863;6480464 8576264;17449869;15489334;15164053;14702039;12477932;12432938;19595472;19913121;20628086;20804502;22939629;21139048;21906983;23314186 22949 F2Z3J9;F6XGT7;Q14914;Q5JVP2;Q5JVP3 AA876375;ABBA01042728;ABBA01042729;ABBA01042730;AK091948;AK289597;AK298379;AK309450;AK309866;AL135787;AL159168;AMYH01021642;BC035228;CH471105;D49387;NM_001146108;NM_001146109;NM_012212 AAH35228;BAA08382;BAF82286;BAG60615;EAW59074;EAW59075;EAW59076;EAW59077;EAW59078;NP_001139580;NP_001139581;NP_036344;Q14914 Hs.584864 1652637;1669167;1693750;1774788;2120614;2131440;5021872 A008V29;RH16615;RH66479;RH69266;SHGC-33630;SHGC-58823;sY3084 FLJ99229;LTB4DH;MGC34943;PGR1;ZADH3 15-oxoprostaglandin 13-reductase;NADP-dependent leukotriene B4 12-hydroxydehydrogenase;OTTHUMP00000021915;PRG-1;dithiolethione-inducible gene-1;leukotriene B4 12-hydroxydehydrogenase;prostaglandin reductase 1;zinc binding alcohol dehydrogenase domain containing 3 APPROVED protein-coding ENSG00000106853 18429 03173 601274 REVIEWED 736739 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 9 9 q32-q33.3 124173050 124197802 + 125132809 125157982 + 1580863;1300048;2300211;2300247;2300208;2300207;2300252;2300258;2290567;2300262;2300267;2300223;2300125;2300212;2300213;5147461;5143924;5688237;5688149;5688247;5688250;5688162;5688221;5687744;5687745;6480464;5688160;5688246;5688169;727386;5688249;5688239;5688240;5688156;5688223;5688266;5688234;5688244;5688245;5688242;5688236;6907045;5688147 12615701;18480553;15867369;16803521;17942724;17766473;17699727;17537981;17429720;18637715;18416056;12708469;9521170;19364335;16517580;12663931;21667309;10867793;10229132;19719848;17184185;22289897;22165968;20038946;11063829;17413918;12086957;10560656;12005397;11740205;20157512;21575628;14576556;11391707;11121536;11565600;12916703;21701788 21478098;22406532;20538124;9630216;18029348;19530321;19527514;19433337;19390185;19350112;19336370;19282863;19276290;19258012;19205707;19132974;19132198;19124506;19091535;19064572;19060633;19056482;19046748;19019335;18997734;18992148;18838483;18818748;18753249;18705313;18676680;18636124;18618313;18571838;18511850;18459455;18287876;18280718;18214026;18173552;17977913;17926541;17868881;17681165;17673564;17671743;17640058;17631383;17624243;17559347;17555580;17495879;17355643;17322116;17320986;17301694;17264103;17130490;17105783;17078001;17071117;17062130;16930602;16875891;16857763;16787416;16702043;16678543;16493486;16411757;16344721;16323955;16181984;16181776;16150050;16141368;16115753;16105649;16055872;15963707;15870920;15720413;15705965;15654517;15607906;15504548;15489334;15453269;15375804;15361066;15328521;15308583;15301234;15190260;15167967;15159324;15086459;15041270;14988266;14625295;14507922;12954496;12842195;12835322;12784332;12730088;12720297;12711844;12711701;12665651;12664596;12545150;12519124;12477932;12242329;12237309;12213900;12193665;12192304;12050227;11981837;11920472;11897504;11877441;11809691;11477109;11318639;11121413;10999846;10988074;10900130;10585854;9435560;8900446;8643612;8365485;8349699;8181472;8121489;7864630;7559624;7510883;2512924;1907252;1734857;1587858;12354292;9639560;18612540;18582172;8581564;7521167;19913121;20628086;20628624;20673868;20691446;20720307;21351261;20357271;20382140;20225218;1380156;19170196;19235530;19399588;19625176;19692168;19723114;19740098;19769727;19887674;19948975;20308035;20437058;20452482;20453000;20227045;20227521;20530583;12355421;21094252;22758658;21266582;18657230;21797823;22982857;21434767;21097517;21256536;21561892;21812955;21699462;22049022;22397921;12600754;15028279;15367379;15589421;16344560;23074965;22860421;20467438;21035466;23029430 5742 B4E2S5;P23219 ABBA01043713;AF086438;AF129755;AF440204;AI813317;AJ420464;AK290022;AK295221;AK304403;AK308222;AL162424;AL359636;AMYH01021694;AY449688;BC029840;CD014048;CD014049;CH471090;DA392280;DQ180740;DQ180741;DQ180742;GN341826;GN341828;HI519546;M31822;M59979;NG_032900;NM_000962;NM_001271164;NM_001271165;NM_001271166;NM_001271367;NM_001271368;NM_080591;S36219;S36271;S78220;U63846 AAA03630;AAA36439;AAB21215;AAB22216;AAB22217;AAC50632;AAH29840;AAL33601;AAR08907;ABA60097;ABA60098;ABA60099;ABM83367;ABM86578;BAF82711;BAG58214;BAG65237;CAY39332;CAY39333;CBX54354;EAW87529;EAW87530;NP_000953;NP_001258093;NP_001258094;NP_001258095;NP_001258296;NP_001258297;NP_542158;P23219 Hs.201978 1675341;1690266;1736692;1776589;1786998;1791392;1791530;1793110;1793294;1793296;1793298;1794762;1794764;1794766;1794768;1794770;1794772;1798036;1854023;2160479;2182028;5023545;5094682 D17S813E;D1S2077E;D9S2049;PMC109173P1;PMC113853P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC55343P1;PMC55343P2;PMC55343P3;PMC55343P4;PMC55343P5;PMC55343P6;PMC55343P7;PMC55343P8;PTGS1_1841;RH45319;RH98513;SHGC-148713;SHGC-30513;SHGC-57364 COX1;COX3;PCOX1;PES-1;PGG/HS;PGHS-1;PGHS1;PHS1;PTGHS COX-1;OTTHUMP00000022052;OTTHUMP00000022053;PGH synthase 1;PHS 1;cyclooxygenase-1;prostaglandin G/H synthase 1;prostaglandin G/H synthase and cyclooxygenase;prostaglandin H2 synthase 1;prostaglandin-endoperoxide synthase 1 APPROVED protein-coding ENSG00000095303 9604 07518 176805 REVIEWED 69107 PTH parathyroid hormone The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). [provided by RefSeq, Jul 2008] 11 11 p15.3-p15.1 13470177 13474143 - 13513601 13517567 - 1580863;1598941;6480464;5135046;1598943;7242897;7242899;7242900;7242904;7242907;7242924;7242935;7242949;7240710;7207470;7242409;7242410;7242412;7242414;7242416;7242417;7242418;7242420;7242421;7242422;7242411;7242564;7242565;7242572;7242573;7242687;7242689;7242692;7242693;7242699;7242728;7242730;7242731;7242742;7242744;7242750;7207465;7207455;7242790;7242793 2212001;21335517;1302009;22688001;22647434;22634235;22581996;22312238;19570882;21826734;22517117;19395963;23543299;23534747;23528898;23499504;23486515;23470222;23467111;23460043;23447517;21939825;23529273;23548814;23548309;23345625;23344571;18480316;23261531;23243213;23211335;23168286;23121374;23066118;23043229;22902873;22777106;12046039;21777186;9054374;23585311;23161222 12893275;1125201;22355038;10499494;7797535;15080150;9927325;7721880;10913913;90087;14718574;19565936;19557980;19524129;19453261;19397786;19370057;19057839;19019998;18945829;18821330;18798227;18782355;18676680;18649177;18627264;18583400;18551993;18539556;18499553;18348699;18285546;18283239;18280230;18279669;18166826;18165223;18061978;18056632;17990294;17976926;17823083;17351276;17121534;16762954;16682833;16677544;16475791;16412323;16362385;16272640;16117875;16105030;16081646;15962290;15917161;15890770;15826940;15824859;15808916;15769857;15707954;15639837;15515479;15514034;15504937;15489334;15472173;15340161;15297458;15240611;15227728;15186723;15070925;15070914;15035617;14969386;14730973;14506618;12947048;12914574;12905817;12490859;12477932;12403624;12369776;12364326;12207101;12195069;11984699;11956184;11918225;11814621;11467957;11278902;10837469;10623601;10523031;9482662;9108031;8922395;8344299;7797503;6950381;6885073;6220408;4833516;4721748;4521809;4474131;3005800;2215618;2069952;1672845;1474331;22190112;728431;16169070;11551928;22456600;21203493;19913121;20628086;20654748;20808842;21306649;20452474;20471507;19723499;20634326;20558332;20601288;12036966;20498246;18240029;19170196;19230880;19250270;19384851;19386515;19539290;19570881;19625176;19672814;19690432;19692168;19696213;19809994;19874204;19918796;19965540;20005908;20056760;20097749;20156921;20349051;20872272;20809279;21082232;23168847;20654714;19674967;20641034;21465527;22582762;21656831;17696759;21389278;21389978;21611962;21576356;20639672;20820131;21426456;21590742;22059355;21178378;21881376;22405053;22337915;21383630;21777017;21248778;22377250;21968268;21888960;22442276;20578167;22407786;22540853;23190522;23393179;21932346;21956833;23493435;23509103;23228198;23286544 5741 P01270 A29146;AA843660;ABBA01061123;AC021269;AMYH01003399;BC096142;BC096143;BC096144;BC096145;BX103059;BX106232;CH471064;J00301;NG_008962;NM_000315;V00597 AAA60215;AAH96142;AAH96143;AAH96144;AAH96145;CAA01956;CAA23843;EAW68494;EAW68495;NP_000306;P01270 Hs.37045 1694910;1722377;1741903;1742573;2114600;2166767 G44342;G60260;GDB:186670;GDB:197901;PTH;STS-V00597 PTH1 OTTHUMP00000230966;parathormone;parathyrin;parathyroid hormone;parathyroid hormone 1;prepro-PTH;preproparathyroid hormone APPROVED protein-coding ENSG00000152266 9606 01345 146200;168450 REVIEWED 1601727 PTH2 parathyroid hormone 2 TIP39 is related to parathyroid hormone (PTH; MIM 168450) and PTH-related protein (PTHRP; MIM 168470) and is a ligand for PTH receptor-2 (PTHR2; MIM 601469) (John et al., 2002 [PubMed 11861531]).[supplied by OMIM, Mar 2008] 19 19 19 q13.33 46793291 46794318 - 54617483 54618510 - 49925671 49926698 - 6480464 19401215;15489334;14988434;12754053;12559132;12477932;12098667;11861531;11818570;10854439;10526330;18240029;12036966 113091 Q96A98 ABBA01032930;AC010619;AMYH01009912;AY037555;AY048588;BC093995;BC093997;CH471177;NM_178449 AAH93995;AAH93997;AAK68689;AAL06597;EAW52480;NP_848544;Q96A98 Hs.339845 5492863 UniSTS:483064 TIP39 tuberoinfundibular 39 residue protein;tuberoinfundibular 39 residue protein precursor;tuberoinfundibular 39 residues;tuberoinfundibular peptide of 39 residues APPROVED protein-coding ENSG00000142538 30828 16328 608386 VALIDATED 731312 PTH1R parathyroid hormone 1 receptor The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] 3 3 p22-p21.1 46894240 46920293 + 46919236 46945289 + 729796;1599978;1599980;1580863;6480464;7207455;7207470;7207465;7207469 8020952;8703170;16036863;9054374;19395963;21777186;20703892 9927325;9745456;10709993;19453261;19369447;19346515;19188335;19061984;18946036;18698360;18559376;18541021;18539702;18395846;18375760;18285546;18280230;18261460;17904173;17885720;17884816;17872377;8386612;8397094;8197183;7745008;7701349;1602151;17500070;17410535;17406357;17321669;17276526;17227205;17200368;17038311;16816927;16813525;16508749;17511743;16492667;16369896;16274647;16236727;16213899;16099817;16029167;15744035;15670850;15611080;15609321;15523647;15489334;15294324;15016722;14871409;14729622;12947048;12933685;12595070;12592371;12477932;12403624;12368206;12359237;12220636;12107160;12075354;11932319;11850620;11726668;10913300;10854575;10770955;10523019;10487664;9817594;9737850;9649554;9178745;9108031;20656684;19913121;20628086;20654748;18240029;19190955;19674967;19707467;19727905;19730683;19952062;20080964;20139972;20152661;20172855;20424473;12036966;20060342;20890029;20489161;20734064;21445058;21404329;21672629;21832055;21756942;21518242;21312071;19608645;21898592;23314748;23124878;23300710;23297229 5745 E7EWE7;F2Z314;H7C0Q3;Q03431;Q0VGD7 AB065462;ABBA01024711;ABBA01024712;AC109583;AF077526;AMYH01013135;AMYH01013136;AMYH01013137;AY449732;BC031578;BC110388;BC112221;BC112247;BQ574694;CA412652;CH471055;L04308;NG_008864;NM_000316;NM_001184744;U17418;U22409;X68596 AAA36525;AAA56774;AAB60657;AAC27643;AAI10389;AAI12222;AAI12248;AAR18076;ADR83225;BAC05721;CAA48589;EAW64793;EAW64794;NP_000307;NP_001171673;Q03431 Hs.1019 1682477;1792496;2144372 PMC152287P1;RH80066;STS-L04308 MGC138426;MGC138452;PFE;PTHR;PTHR1 OTTHUMP00000164784;OTTHUMP00000209970;OTTHUMP00000209971;OTTHUMP00000209972;OTTHUMP00000209973;PTH/PTHr receptor;PTH/PTHrP type I receptor;PTH1 receptor;parathyroid hormone receptor 1;parathyroid hormone/parathyroid hormone-related peptide receptor;parathyroid hormone/parathyroid hormone-related protein receptor;seven transmembrane helix receptor APPROVED protein-coding ENSG00000160801 9608 01347 168468 REVIEWED 731006 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009] 1 1 q25.2-q25.3 184907592 184916179 - 186640944 186649559 - 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5743 P35354;Q6ZYK7 ABBA01027702;AF044206;AF276953;AJ634912;AK292167;AL033533;AMYH01001563;AY151286;AY229989;AY382629;AY462100;BC013734;BM978796;CH471067;D28235;DA277667;HC025790;HI519548;HM473188;L15326;L34209;M90100;NG_028206;NM_000963;U04636;U20548;U44805 AAA35803;AAA57317;AAA58433;AAD14842;AAF85977;AAH13734;AAN52932;AAN87129;AAO38056;AAQ75702;AAR23927;ABW03398;ABW03733;ADJ56342;BAA05698;BAF84856;CAG25548;CBH19826;CBX54355;EAW91216;NP_000954;P35354 Hs.196384 1675341;1690266;1726165;1726167;1726169;1726171;1726173;1726175;1726177;1726179;1726181;1726183;1726185;1736692;1744469;1747657;1747659;1747661;1747663;1747665;1747667;1747669;1747671;1775930;1789324;1789326;1789983;1789985;1789987;1791296;1791392;1793110;1793294;1793296;1793298;1793926;1794764;1794766;1794768;1798038;1858142;2182028;5494061 D17S813E;D1S2077E;D1S3433;G63789;G63790;G63791;G63792;G63793;G63794;G63795;G63796;G63797;G63806;G63807;G65464;G65465;G65466;G65467;G65468;G65469;G65470;G65471;G67929;G67930;GDB:455285;PMC100312P2;PMC109173P1;PMC196577P3;PMC20756P1;PMC20756P2;PMC20756P3;PMC309638P1;PMC55343P2;PMC55343P3;PMC55343P4;PTGS2-235F;PTGS2_236;RH98513;SHGC-57364;SHGC-76038;csnpptgs2-pcr10-1;csnpptgs2-pcr6-1;csnpptgs2-pcr8-1 COX-2;COX2;GRIPGHS;PGG/HS;PGHS-2;PHS-2;hCox-2 OTTHUMP00000033524;PGH synthase 2;PHS II;cyclooxygenase 2b;cyclooxygenase-2;prostaglandin G/H synthase 2;prostaglandin G/H synthase and cyclooxygenase;prostaglandin H2 synthase 2 APPROVED protein-coding ENSG00000073756 9605 02599 600262 REVIEWED 1347658 PTK8 PTK8 protein tyrosine kinase 8 8247543 5755 9619 1346742 PTLAH patella aplasia-hypoplasia 7240710 10417287 8830 1334736;1337337 D17S1604;D17S787 9622 730965 PTH2R parathyroid hormone 2 receptor The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 2 2 q33 208979801 209067476 + 209271556 209359231 + 1580863;6480464 8921382;7797535;19401215;18539702;18459453;18280230;15670850;15489334;14988434;12834174;12477932;11861531;10854439;9482662;12036966;18240029;21756942;22637743;23092913 5746 H7C0B0;P49190 ABBA01062711;AC012362;AC019185;AK294181;AK309827;AMYH01011453;AY497546;BC036811;BM808818;CH471063;CR747526;DB536374;NM_005048;NR_073601;U25128;U47124 AAA96796;AAC50157;AAH36811;AAR90849;AAY14871;AAY15091;ADR82689;BAG57499;EAW70451;NP_005039;P49190 Hs.570296 1704944;1753121;1778595;2110685;2161004;2185337 D2S2721;PTHR2_7862;RH70646;SHGC-31599;SHGC-68765;SHGC-79953 PTHR2 OTTHUMP00000163904;OTTHUMP00000206367;PTH2 receptor;parathyroid hormone 2 receptor;parathyroid hormone receptor 2 APPROVED protein-coding ENSG00000144407 9609 03276 601469 REVIEWED 1352168 PTMAP1 prothymosin, alpha pseudogene 1 (gene sequence 26) 6 6 6 p21.33 32199345 32201141 + 30709051 30710111 + 30601227 30603024 + 1612591 5758 ABBA01038051;AL662800;AL732442;AL845353;AMYH01016205;BX119957;BX908728;CR753328;CR759778;NG_004833;S41692 1776546 RH68972 pseudo 9624 INFERRED 1605722 PTMAP2 prothymosin, alpha pseudogene 2 (gene sequence 32) 5 5 5 q23.1 114256170 114257428 + 118337007 118338520 + 118309257 118310515 + 2708378;1612591 5759 ABBA01068985;AC008629;AMYH01015574;J04799;NG_002765;S41639;S41653;S41694 AAA63238 pseudo 9625 INFERRED 1354514 PTMAP3 prothymosin, alpha pseudogene 3 (gene sequence 34) 20 20 20 p11.23 18066992 18068259 + 17940406 17941797 + 17992434 17993701 + 2708378;1612591 5760 ABBA01054036;AL121585;AMYH01011741;J04800;NG_001180;S38640;S41695 pseudo 9626 INFERRED 1350218 PTMAP4 prothymosin, alpha pseudogene 4 (gene sequence 112) 12 12 12 p13.31 10929049 10930232 - 9283130 9284415 - 9391909 9393092 - 8592501;2708378;1612591;21906983 5761 Q9NYD3 ABBA01012258;AC010175;AF257099;AMYH01004244;J04801;L20955;NG_001181;S38624 AAA36485;AAB08484;AAF71547 PTMA pseudo 9627 INFERRED 1347548 PTMAP5 prothymosin, alpha pseudogene 5 13 13 13 q31.1 63165324 63166508 + 81161932 81163328 + 82264031 82265215 + 1612591;21906983 150928 ABBA01021721;AL354830;AMYH01005239;NG_004798;S38627 2131423 STS-J04802 pseudo 9628 INFERRED 1343132 PTMAP6 prothymosin, alpha pseudogene 6 20 20 20 q13.31 52016860 52017029 - 54709624 54709993 - 55276401 55276570 - 170542 ABBA01052907;AL121920;AMYH01012006;NG_001051 dJ539E24.2 pseudo 16573 INFERRED 1352728 PTMAP7 prothymosin, alpha pseudogene 7 14 14 14 q32 72545376 72546521 + 91562476 91563735 + 92492766 92493911 + 6480464 8592501 326626 ABBA01030463;AL049872;AMYH01005955;L21695;NG_002608;NG_016970 AAB08708 2131423 STS-J04802 pseudo 20031 INFERRED 736996 PTHLH parathyroid hormone-like hormone The protein encoded by this gene is a member of the parathyroid hormone family. This hormone regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of malignancy. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. [provided by RefSeq, Jul 2008] 12 12 p12.1-p11.2 28002284 28016183 - 28111017 28124916 - 1579870;1580863;6480464;6484113;7240710 11934857 12852260;10773581;9008714;10803599;8641188;19587161;19519497;19507249;19453261;19350667;19342773;19304784;19240061;19190955;19056930;18729185;18695921;18651620;18627264;18621740;18541021;18426836;18379031;18280230;18096456;18035481;18007586;17964713;17516841;17443683;17426287;17390372;17370040;17213971;16965770;16551631;16500729;16455237;16298826;15889157;15878959;15629138;15582709;15489334;15291755;15286039;15282196;15210588;15128746;15023531;14969386;14503917;12947048;12933685;12929929;2708388;9832460;2549037;8058749;10828849;90087;12850281;12727200;12647214;12586762;12581888;12576923;12549623;12538599;12504010;12477932;12391194;12374685;12364464;12359237;12220636;12210735;12201218;12000745;11997185;11456271;11401507;11159841;10947864;10873655;10373465;10066803;10050767;9801466;9391077;9144344;9108031;9048639;8982748;8753751;8683730;8396010;7708054;3616618;3290897;2928340;2885845;2829195;2744490;2288637;1954916;1915066;12850290;20082139;19913121;20628086;20876711;20428761;20496422;20015959;20060342;20556927;18240029;19487464;19584267;19596235;19616583;19674967;19727413;19730683;19825997;19952062;19959711;20035059;20049852;20170896;12036966;21625386;20890111;21085597;21532883;20844958;21068146;22830401;22955522;21444150;21402056;18029348;22508574;23458685;21732369;21664243;21775817;22056386;21826652;22747683;22318950;20401668;21942940;22291434;23499737;22960231;22997493;22448974;22745236;22790219 5744 F5GZD9;F5H485;P12272;Q53XY9 ABBA01068057;AC008011;AI569027;AI591151;AI760061;AK313476;AMYH01004351;AMYH01004352;BC005961;BG676028;BG679319;BG680355;BI752853;BI963162;BT007178;CH471094;CR541882;J03580;J03802;M17183;M24349;M24350;M24351;M26958;M26959;M26960;M34071;NG_023197;NM_002820;NM_198964;NM_198965;NM_198966;X14304 AAA60216;AAA60217;AAA60218;AAA60221;AAA60358;AAA60359;AAA60360;AAH05961;AAN76483;AAO49791;AAO49793;AAP35842;ABM87392;ABW03879;BAG36261;CAA32480;CAG46680;EAW96572;EAW96573;EAW96574;EAW96575;EAW96576;NP_002811;NP_945315;NP_945316;NP_945317;P12272 Hs.591159 1669939;1673573;1674607;1722245;1727487;1732715;1742963;1777726;1791762;1792546;1798040;2114451;2132085;2142056;2150991;2173958;2183176;2190617 D12S1337;D12S1941;D12S2029;G60028;G63001;GDB:217131;PMC123659P5;PMC153548P1;PTHLH;PTHLH_2350;RH17692;RH48084;RH48408;SHGC-17539;STS-AA035272;STS-J03802;STS-M24351;WI-9193 BDE2;HHM;MGC14611;PLP;PTHR;PTHRP OTTHUMP00000240429;OTTHUMP00000240430;OTTHUMP00000240432;OTTHUMP00000240433;PTH-rP;PTH-related protein;osteostatin;parathyroid hormone-like peptide;parathyroid hormone-like related protein;parathyroid hormone-related protein;parathyroid hormone-related protein preproprotein APPROVED protein-coding ENSG00000087494 9607 01348 168470;613382 REVIEWED 5144404 PTMAP8 prothymosin, alpha pseudogene 8 3 3 3 q13.31 115153521 115153862 + 118228070 118228576 + 116745545 116745886 + 23251661 728873 ABBA01061608;AC068303;AMYH01013409;NG_031895 pseudo 42437 INFERRED 732757 PTK2 protein tyrosine kinase 2 This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene, but the full-length natures of only three of them have been determined. [provided by RefSeq, Dec 2010] 8 8 q24.3 141737683 142080514 - 141668481 142011412 - 729831;1581290;1580863;2292571;2292561;2292562;2292572;2292554;2292569;2292570;2292555;2292558;2292559;2298729;2300402;2292604;2292632;2292557;2292563;2292568;2292579;2292556;2292560;2292584;2292577;6480464;6907045;5130174 12732587;16244766;11204274;15564794;15536334;10526262;18056629;12517589;12242727;17543958;16457699;16136050;17658244;15108811;15378782;18429825;16547501;15455382;14675348;17514628;16638855;15930288;17203219;17620366;17913382 20953136;21029396;21209368;15532706;12558988;12473661;11359909;15077193;8649368;10822899;14688263;9636140;8422239;18029348;10801330;9325343;19545541;19492042;19475568;19364917;19339212;19318351;19303400;19301259;19297531;19268501;19242756;19199036;19150878;19147981;19141860;19098120;19089993;19082453;19055942;19042019;19029090;19020730;19006177;18987997;18948272;18922979;18832579;18695939;18680726;18669633;18632638;18593949;18562041;18549812;18519756;18493017;18452580;18449907;18414015;18353772;18349846;18332144;18322799;18292781;18292575;18263593;18256281;18247360;18223254;18215142;18210145;18206965;18198129;18182379;18078954;18078823;18073135;18061419;18032789;17999388;17982280;17967873;17904248;17888894;17879163;17828307;17675501;17620332;17537730;17515959;17469136;17443665;17397984;17332925;17327229;17317726;17240116;17215324;17213807;17192257;17113264;17096371;17088251;17081983;17081517;17028776;16998832;16920698;16912186;16899713;16842883;16705171;16620772;16523241;16452200;16412380;16406804;16371650;16354697;16308318;16298995;16270396;16260653;16251422;16247468;16226872;16189514;16159962;16153436;16141199;16105876;16054026;16039608;16007195;15975092;15951569;15895076;15866427;15855171;15850774;15778501;15743500;15736429;15681841;15657875;15657578;15652490;15640164;15611137;15557280;15369772;15331608;15247219;15210734;15175910;15166238;15161045;15157737;15155793;15121855;15102844;15102689;14702039;14699482;14670178;14637150;14617636;14584897;14578863;14553943;14521607;14500712;12954625;12939401;12907754;12904305;12884911;12881299;12847914;12844492;12815062;12803239;12794117;12748169;12700132;12659633;12651906;12611892;9342235;9257837;9230116;9169439;9079653;8986614;8941336;8922390;8879209;8816475;8770310;8668148;8660853;8654393;8649427;8609175;8247543;8054685;7997267;7766995;7744883;7692878;7622520;7589239;7537275;7529876;7529872;7509446;7479864;15528360;12615911;10085298;15494733;11577104;10753828;8810278;11919182;10330411;9442086;9054445;11463817;9858471;11857088;17043358;12629171;12551902;12543870;12531888;12529399;12477932;12435390;12387730;12376862;12370821;12297287;12226752;12216109;12215217;12174366;12169389;12167618;12135674;12119061;12110680;12058076;12054581;12049193;12023386;12011046;12005431;11988077;11986332;11980671;11950595;11927607;11916084;11891225;11886520;11809746;11807823;11799111;11779709;11668182;11602246;11514617;11513739;11496289;11476890;11468295;11389892;11382919;11369769;11337490;11331870;11314030;11278857;11278462;11278335;11278329;11160818;11113628;10938112;10931187;10925297;10873094;10808124;10806474;10769033;10655584;10587647;10545505;10512882;10455189;10446223;10430888;10400703;10384144;10082579;10048580;9867854;9837978;9822703;9756887;9750131;9708406;9658172;9642276;9553131;9507031;9497381;9461600;9422762;9418872;9360983;9360968;22378044;22492165;7515480;9148935;15494732;7597091;22790665;22488171;21276823;20151150;20515733;19403028;21127007;21454615;20407018;20936779;20233709;20378826;21068464;18846341;20811717;20869748;20924071;20576130;16202977;16291744;16581250;16760434;17236584;18086875;18184462;18497331;18713744;19423701;19435801;19454363;19471549;19473962;19479902;19481075;19500106;19561089;19563023;19574423;19615356;19633364;19635908;19644410;19656390;19664602;19671193;19695571;19695682;19736351;19737461;19787193;19798549;19823058;19826415;19857493;19889638;19889958;19917775;20018849;20056178;20089932;20109444;20124721;20145126;20150423;20198306;20389021;20441998;8493579;9786953;19021002;19032871;20127254;20191563;20621036;20140743;20160475;20400979;12149262;20725143;21071137;20177740;20597513;20201928;20431421;20880986;16344560;20959405;20966971;21045155;20405349;20594998;20802513;21042764;21338601;21720547;19297850;21403855;20869705;21281808;21502966;21084629;22894899;22937161;16803572;22393238;22760257;23209645;23536552;23047954;21454698;21269758;21350188;19118217;21703394;21693107;21656515;21969470;22766276;23022044;15717329;16927379;21667138;21876001;21411625;21765932;21669400;23275034;20561409;23273897;23328812;22898813;22810307;21058027;21637765;18031698;21401419;21646305;21900206;21653826;21590355;21643014;21994943;22005766;22203672;20434207;21590492;21483099;15725728;16919435;19525103;21247411;21852242;21969587;21900245;21914806;21921419;21716326;18341635;21139048;21937583;22323655;21800286;21875461;21898412;21967109;22009484;22040413;22075845;22094095;22095445;22203669;22270917;21418517;22454420;22493428;15673687;17274640;19322201;21726809;21855630;22544741;22563076;22734001;22188814;22341464;12771190;17893324;22402131;21832049;22336124;22402981;22149168;20145416;22871469;23079702;23143646;21988832;22813850;22939624;21868344;22817694;22854047;23393139;23186335;23455922;22778269;21707507;22733437;23179791;11839772;17868650;19931244;20041213;21948112;22028271;22362758;22473839;23064287 5747 B4DWJ1;E5RFW9;E5RG54;E5RG66;E5RG80;E5RG86;E5RGA6;E5RGP1;E5RH01;E5RH08;E5RH48;E5RHD8;E5RHK7;E5RI03;E5RI29;E5RI72;E5RII9;E5RIK4;E5RIR5;E5RJI4;E5RJN1;E5RJP0;E5RJQ2;E7ESA6;E9PEI4;H0YAS0;H0YB16;H0YB33;H0YB99;H0YBP1;H0YBZ1;J3QT16;Q05397;Q59GM6;Q658W2;Q8IYN9;Q8N9D7 AB209071;AB209083;ABBA01013677;ABBA01013678;ABBA01013679;AC067931;AC100860;AC105009;AC105235;AK055139;AK094999;AK124810;AK294873;AK301557;AK304356;AL832961;AMYH01019069;BC015361;BC028733;BC035404;BC043202;BF434494;CH471060;DA236314;DA994616;DB478006;L13616;NG_029467;NM_001199649;NM_005607;NM_153831 AAA58469;AAH28733;AAH35404;ABW03595;BAC04470;BAD92308;BAD92320;BAG57974;BAG63053;BAG65198;CAH56296;EAW92210;EAW92211;EAW92212;EAW92213;EAW92214;NP_001186578;NP_005598;NP_722560;Q05397 Hs.395482 1341610;1648530;1656768;1660325;1694704;1697440;1705322;1713603;1713747;1720181;1720185;1722537;1740465;1779640;2123654;2135453;2146332;2149317;2174161;2174163;5015961;5037552;5105597 A006E44;D15S1477;D5S2264E;D8S1729;D8S2279;G20751;G43542;G60195;RH102221;RH10984;RH120676;RH120759;RH124004;RH124006;RH69012;SHGC-12766;SHGC-132108;SHGC-153616;SHGC-34940;SHGC-79845;STS-T29673;WI-11480;WI-18850 FADK;FAK;FAK1;FRNK;PPP1R71;p125FAK;pp125FAK FADK 1;FAK-related non-kinase polypeptide;OTTHUMP00000226318;OTTHUMP00000226320;OTTHUMP00000226325;OTTHUMP00000226326;OTTHUMP00000226333;OTTHUMP00000226334;OTTHUMP00000226350;OTTHUMP00000226586;PTK2 protein tyrosine kinase 2;focal adhesion kinase 1;focal adhesion kinase-related nonkinase;protein phosphatase 1 regulatory subunit 71;protein phosphatase 1, regulatory subunit 71;protein tyrosine kinase 2;protein-tyrosine kinase 2 APPROVED protein-coding ENSG00000169398 9611 02859 600758 REVIEWED 1342790 PTOS1 ptosis, congenital 1 (autosomal dominant) 7240710 9150162 5765 1335862;1339428;7185213 D1S1616;D1S447 9631 178300 1319246 PTK6 protein tyrosine kinase 6 The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 20 20 q13.3 61630210 61639151 - 62159766 62168723 - 1580863;6480464 16568091;10980601;8036022;19621240;19439179;19401189;19393627;18829532;18781181;18719096;18077133;17997837;16651629;16179349;15961400;15951569;15870689;15572663;15539407;15489334;15471878;15056653;14676834;12833144;12725532;12482964;12477932;12297019;12121988;11997104;11780052;11330822;11114724;21479203;10913193;10430081;9749526;9284935;8940083;8247543;17910947;19913121;20606012;20628086;20162673;20929863;19304789;19661439;20026641;20554524;21832049;20687930;22231447;22974441;23497344;21240512;21380407;21603980;9333026;18029348;22084245;16344560;22547065;23352614;16273093;18296648;22939624;22989419;22705009;21923922;22849407 5753 Q13882 ABBA01021402;AK124082;AK301364;AK301691;AK315232;AL121829;AMYH01012082;AMYH01012083;BC035843;CH471077;DA762278;NM_001256358;NM_005975;U61412;X78549 AAC34935;AAH35843;BAG37660;BAG62908;BAG63163;CAA55295;EAW75262;EAW75263;NP_001243287;NP_005966;Q13882 Hs.51133 2129937;5015619;5021872;5022200;5037552 D11S3114;D8S2279;L18426;SHGC-35420;sY3084 BRK;FLJ42088 OTTHUMP00000031656;PTK6 protein tyrosine kinase 6;breast tumor kinase;protein-tyrosine kinase 6;protein-tyrosine kinase BRK;tyrosine-protein kinase BRK APPROVED protein-coding ENSG00000101213 9617 03594 602004 REVIEWED 1344975 PTK7 protein tyrosine kinase 7 This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 p21.1-p12.2 43152007 43237435 + 43044006 43129458 + 1580863;2293492;6480464 17226800 8882711;7478540;18029348;18471990;17671748;15683231;14702039;12754519;12477932;12427550;9154124;8247543;20558616;20837484;21103379;21132015;21518755;23095747;17910947;21875946;21139048;21890473;21906983;15146197;16344560;21415598;22230326;22585737;22665490;23000965;23209741;22898210 5754 C9J9E8;C9JQR6;F8WCI7;F8WDG7;H0Y889;H0Y8F1;H7C4X3;H7C5L0;Q86X91;Q8NFA6 AB209350;ABBA01050694;ABBA01050695;ABBA01050696;AF447157;AF447158;AF447162;AF447164;AF447167;AF447170;AF447171;AF447173;AF447174;AF447175;AF447176;AF531868;AF531869;AF531870;AF531871;AF531872;AI140260;AK055648;AK093428;AK097717;AK131487;AK291016;AK292589;AK296931;AK296953;AL157486;AL355385;AMYH01016311;BC002377;BC014626;BC046109;BC071557;BM811107;BQ881986;CA389442;CH471081;CN266652;DA048438;NM_001270398;NM_002821;NM_152880;NM_152881;NM_152882;NR_072997;NR_072998;U33635;U40271 AAA87565;AAC50484;AAH46109;AAH71557;AAL39062;AAN04862;AAN04863;AAN04864;AAN04865;AAN04866;BAD92587;BAF83705;BAF85278;BAG51548;BAH12457;BAH12463;CAB75674;EAX04154;EAX04155;EAX04156;EAX04157;EAX04158;EAX04159;EAX04160;NP_001257327;NP_002812;NP_690619;NP_690620;NP_690621;Q13308 Hs.90572 1338991;1665241;1699636;1768513;1787640;2160033;2167640;2172404;5015881;5015961 D15S1477;D6S1582;D6S1883;GDB:335751;RH103422;RH12355;RH37456;SHGC-156006;STS-R52053;WI-5149 CCK-4;CCK4 CCK-4;OTTHUMP00000016421;OTTHUMP00000217005;OTTHUMP00000217013;OTTHUMP00000217014;OTTHUMP00000217015;OTTHUMP00000217016;PTK7 protein tyrosine kinase 7;colon carcinoma kinase 4;colon carcinoma kinase-4;inactive tyrosine-protein kinase 7;protein-tyrosine kinase 7;pseudo tyrosine kinase receptor 7;tyrosine-protein kinase-like 7 APPROVED protein-coding ENSG00000112655 9618 03534 601890 REVIEWED 5132549 PTP4A1P1 protein tyrosine phosphatase type IVA, member 1 pseudogene 1 2 2 152538812 152539326 + 158922057 158922571 + 100421652 ABBA01004849;AC005539;AMYH01011200;NG_023744 pseudo 41928 INFERRED 6770556 PTOV1-AS1 PTOV1 antisense RNA 1 19 50341902 50354933 - 14702039 100506033 ABBA01032908;AC018766;AK092213;AMYH01009918;AMYH01009919;BC043359;NR_040037 Hs.654814 2118785;2120490;2158557;5125327 RH17812;RH18268;RH36317;STS-AA018544 APPROVED miscrna ENSG00000268006 44174 VALIDATED 1346204 PTK2B protein tyrosine kinase 2 beta This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 p21.1 27224916 27372820 + 27168999 27316908 + 1580863;1642605;729912;2292571;1642610;1642621;1642607;1581409;1642647;2292558;2292575;6480464;6484113;6907045 16039993;11774117;11204274;17537919;15970382;12124218;16600505;10964954;16457699;18075463 18954908;16751776;8497321;9020138;10867021;10880513;7529876;8939945;7499242;19358827;19207108;19086031;19047047;9091579;8995252;8849729;8838818;8798684;8792832;7673154;7544443;1718748;12960231;12857973;12628756;10356363;10194422;9362541;12354773;15494733;9344848;9858471;12629171;18832579;18794150;18765415;18667434;18571765;18437915;18390748;18367725;18365874;18198130;17950644;17906699;17785844;17716864;17581868;17563746;17551499;17329398;17205062;17192257;16998626;16949788;16945503;16840719;16783820;16774943;16760434;16514607;16433632;16421571;16055703;15967096;15944312;15881658;15778498;15695828;15588985;15585656;15539082;15499613;15489334;15213840;15128873;15128501;15105428;15070849;15050747;14969582;14963038;14961028;14729602;14684825;14676843;14585963;12943720;12933673;12893833;12844492;12794117;12626562;12606503;12578912;12576483;12522270;12515814;12486027;12477932;12458207;12244133;12231407;12096713;12082274;12077257;12063569;12011061;11916084;11856738;11850124;11820787;11818507;11751905;11744621;11739373;11683411;11668182;11493697;11478920;11461120;11352632;11337490;11311138;11278472;11238453;11162638;11149930;11036077;11007796;10961871;10821841;10797305;10777553;10769033;10747947;10713673;10708762;10702271;10521452;10518561;10354709;10329689;10322114;10022920;10022914;9750131;9621077;9565592;9560226;9545257;9512511;9446638;9442086;9422762;9402324;9242628;9104812;9099734;21114537;19913121;20628086;10082674;11937718;12771146;15557335;16202977;18086875;19415692;19458494;19509258;19561089;19706888;19718025;19880522;19919693;19930834;20028775;20056178;20074345;20215112;20308428;20379614;20381867;19106639;20543098;20966971;20688918;19661918;20800603;20849950;20881009;16344560;20724588;8889548;20180987;17910947;15835820;22842493;23300847;21357692;21533080;21640103;22922962;15717329;8670418;17512525;21602932;18029348;22023045;21426305;21840393;21666110;21890473;12771190;22454420;10229084;19380485;22096562;22188814;18507841;22581436;22939624;23259602;23302305;18453587;18632858;19700666;20842205;20946164;21424732;22190034;22745829;22923218;23142219;22859931 2185 C9JHV9;E5RHL2;E5RJ77;E5RK84;E9PBI4;H0YB74;Q14289 AB209085;ABBA01005586;ABBA01005587;ABBA01005588;AC010856;AC124649;AF311103;AK128371;AL120380;AMYH01018596;AMYH01018597;AMYH01018598;AW130888;AY429564;BC036651;BC042599;BF796371;BM712234;BQ009032;CH471080;D45853;DA773624;DQ590775;L49207;NG_029510;NM_004103;NM_173174;NM_173175;NM_173176;U33284;U43522 AAB47217;AAC05330;AAC50203;AAH36651;AAH42599;BAA08289;BAC87404;BAD92322;EAW63553;EAW63554;EAW63555;EAW63556;NP_004094;NP_775266;NP_775267;NP_775268;Q14289 Hs.491322;Hs.735450 1651353;1720509;1758109;1786690;1853676;2115645;2174113;2219570 D8S465;G59208;HSC25C022;PTK2B__5609;RH12429;RH69058;SHGC-147423;SHGC-154215 CADTK;CAKB;FADK2;FAK2;FRNK;PKB;PTK;PYK2;RAFTK CAK beta;CAK-beta;FADK 2;OTTHUMP00000128275;OTTHUMP00000162913;OTTHUMP00000225229;PTK2B protein tyrosine kinase 2 beta;calcium-dependent tyrosine kinase;calcium-regulated non-receptor proline-rich tyrosine kinase;cell adhesion kinase beta;focal adhesion kinase 2;proline-rich tyrosine kinase 2;protein kinase B;protein tyrosine kinase 2 beta;protein-tyrosine kinase 2-beta;related adhesion focal tyrosine kinase APPROVED protein-coding ENSG00000120899 9612 03131 601212 REVIEWED 6483732 PTP4A1P2 protein tyrosine phosphatase type IVA, member 1 pseudogene 2 12 q24 133609449 133610756 + 100499563 ABBA01042533;AC073911;AMYH01004923;NG_027516 pseudo 41929 INFERRED 5686946 PTP4A1P3 protein tyrosine phosphatase type IVA, member 1 pseudogene 3 7 q21.13 90736706 90737103 + 12853948 100861469 AACC02000015;ABBA01045825;AC002458;AMYH01017684;CH236949;NG_032021 pseudo 41930 INFERRED 5132554 PTP4A1P5 protein tyrosine phosphatase type IVA, member 1 pseudogene 5 X X p21.3 31574432 31574942 - 27445838 27446348 - 100289380 ABBA01072645;AC006210;AMYH01022176;NG_022587 pseudo 41932 INFERRED 5132575 PTP4A1P4 protein tyrosine phosphatase type IVA, member 1 pseudogene 4 5 5 5 q14.3 81268903 81280214 + 85406038 85419596 + 85382758 85385106 + 100129564 ABBA01062105;AC008506;AMYH01015466;NG_029015 pseudo 41931 INFERRED 5132550 PTP4A1P7 protein tyrosine phosphatase type IVA, member 1 pseudogene 7 1 1 149695459 149695971 - 176585407 176585919 - 100421681 ABBA01027861;AL031734;AMYH01001519;NG_027020 pseudo 41934 INFERRED 5132576 PTP4A1P6 protein tyrosine phosphatase type IVA, member 1 pseudogene 6 11 11 11 q14.2 83453751 83455785 + 85820789 85822823 + 86142449 86145919 + 100129472 ABBA01017322;AP001148;NG_028980 pseudo 41933 INFERRED 1605721 PTP4A2P2 protein tyrosine phosphatase type IVA, member 2 pseudogene 2 11 11 11 q24-q25 131166719 131168510 - 133498631 133500225 - 133993322 133995113 - 8931711;8661118 5769 ABBA01031111;AMYH01004146;AP000911;NG_001182;NG_028348 1682315;1774621 RH40091;WI-11521 PTP4AP2 APPROVED pseudo 9638 INFERRED 1347938 PTP4A2P1 protein tyrosine phosphatase type IVA, member 2 pseudogene 1 17 17 17 q21 37341085 37342166 + 37938577 37939858 + 40685151 40686232 + 15213447;8931711;8661118;8529999 5767 ABBA01006422;AC067852;AMYH01008395;NG_004085;NG_011552;U34879 PTP4AP1;h-PRL-1 APPROVED pseudo 9637 INFERRED 733876 PTMA prothymosin, alpha 2 2 q37.1 232281479 232286495 + 232573235 232578251 + 1580863;6480464 10854063;18976813;18856068;18391951;18240569;17929838;17876542;17188166;17081983;17046193;17012289;16940531;16669873;16628001;16478804;16353248;16341674;15657435;15556635;15489334;15325071;15242774;12943695;12634383;12522243;12477932;12062405;11967287;11897665;11759895;11727831;11528108;11310559;11282171;10891508;10675528;9334214;9099694;8886855;8814229;8592501;8485135;8415730;8125298;7916742;7913591;7588773;3532956;3474615;3467312;3466166;2785990;2708378;2209614;1814846;1632187;1612591;1545115;1426245;15861128;15607035;10938099;20977946;20121050;20430720;22863883;23000965;23151878;23318954;23359453;23398456;23568457;21573209;21954601;22939629;18781797;19279002;21139048;21693764;21890473;21906983;22110140;19471022;22125611;22059741;19322201;21044950;18029348;22463375;22505724 5757 B8ZZA1;B8ZZQ6;B8ZZW7;F8WCE8;H7C031;H7C2N1;P06454;Q53S24 ABBA01002043;ABBA01002044;AC073476;AF348514;AF452640;AK223605;AK314106;AMYH01011561;AY169282;BC003510;BC013859;BC022433;BC034921;BC051265;BC066905;BC070480;BC071647;BC071879;BC098420;BM839980;BX647606;CH471063;L21693;L21696;M14483;M14630;M14794;M26708;M67480;NM_001099285;NM_002823;S56449 AAA60213;AAA61182;AAA61183;AAA61184;AAA63239;AAA63240;AAB08706;AAB08709;AAD13882;AAH03510;AAH22433;AAH34921;AAH51265;AAH66905;AAH70480;AAH71647;AAH71879;AAH98420;AAK30146;AAO18189;AAP97694;AAY24150;ABM83889;ABM87209;BAD97325;BAG36799;EAW70969;EAW70970;EAW70971;EAW70972;EAW70973;EAW70974;EAW70975;NP_001092755;NP_002814;P06454 Hs.459927 5111921 G42925 MGC104802;TMSA OTTHUMP00000204423;OTTHUMP00000204424;OTTHUMP00000204425;OTTHUMP00000204427;OTTHUMP00000204428;OTTHUMP00000204433;gene sequence 28;prothymosin alpha;prothymosin alpha protein;prothymosin, alpha (gene sequence 28) protein-coding ENSG00000187514 9623 01778 188390 VALIDATED 734337 PTMS parathymosin 12 12 p13 6745802 6750379 + 6875541 6880118 + 1580863;6480464 10854063;15716277;12852257;12477932;10601862;9382927;8954154;2776490;2537638;2445824;1862085;16169070;19204726;19773279;20237496;16150697;21832049;22863883;22939629;20360068;21139048;21890473;21906983 5763 F5GXR3;F5H7R9;P20962 ABBA01017655;AC125494;AMYH01004208;BC007616;BC017025;BC128229;BE791815;BM451233;BM550529;CH471116;M24398;NM_002824;Y13586 AAA61185;AAH17025;AAI28230;ABM85051;CAA73913;EAW88742;NP_002815;P20962 Hs.504613 1676170;1777925;2169156;5492997 RH44859;RH80941;STS-M24398;UniSTS:483605 ParaT OTTHUMP00000240393;OTTHUMP00000240395;parathymosin protein-coding ENSG00000159335 9629 01344 168440 VALIDATED 1317037 PTPDC1 protein tyrosine phosphatase domain containing 1 The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 9 q22.32 67234631 67313691 + 95832897 95911957 + 96793076 96872138 + 737633;1580863;6480464 12477932 14702039;16344560;20881960 138639 A2A3K4;A8K0X7 ABBA01017680;AK094631;AK094773;AK124912;AK289692;AK310403;AL360020;AMYH01021520;AW052114;AY171233;BC031279;BC035699;BC051654;BC067120;BI460503;CH471089;DA218576;DA312531;NM_001253829;NM_001253830;NM_152422;NM_177995 A2A3K4;AAH67120;AAO13168;BAC04391;BAC04421;BAF82381;EAW62875;EAW62876;NP_001240758;NP_001240759;NP_689635;NP_818931 Hs.437943 1694876;1788988;1853204;2116113;2170430;2182897;2219572;5023305 G44319;G65573;PTPDC1__5612;RH18531;RH45930;RH66513;U57809;WI-22428 FLJ42922;PTP9Q22 OTTHUMP00000021688;OTTHUMP00000123402;protein tyrosine phosphatase PTP9Q22;protein tyrosine phosphatase domain-containing protein 1 APPROVED protein-coding ENSG00000158079 30184 06689 REVIEWED 1315896 PTOV1 prostate tumor overexpressed 1 19 19 q13.33 55046228 55055811 + 50354416 50363999 + 6480464 21145461;18451224;15713644;14657022;12975309;12598323;12477932;11313889;9110174;8619474;16169070;15778465;20562859;21110951;21181414;23314748;16196087;17641689;21139048;21890473;21906983;21987572;22507319;21090589;22505724 53635 M0QX53;M0QY25;M0QYH6;M0QYH7;M0QYQ4;M0QZB9;Q86YD1 ABBA01032908;AC018766;AF218026;AF238381;AJ617480;AK057817;AK294366;AMYH01009918;AMYH01009919;AY358168;BC015172;BC042921;BC065486;CH471177;DB496336;NM_017432;U79287 AAF70635;AAG17268;AAH15172;AAH42921;AAQ88535;BAG57628;CAE84582;EAW52552;EAW52553;EAW52554;EAW52555;EAW52556;EAW52557;EAW52558;EAW52559;EAW52560;EAW52561;EAW52562;NP_059128;Q86YD1 Hs.587979 1778288;2118785 STS-AA018544;WI-15464 ACID2;DKFZp586I111;MGC71475;PTOV-1 activator interaction domain-containing protein 2;prostate tumor overexpressed 1;prostate tumor overexpressed gene 1;prostate tumor-overexpressed gene 1 protein protein-coding ENSG00000104960 9632 17929 610195 PROVISIONAL 736479 PTN pleiotrophin 7 7 q33 136562628 136679086 - 136912088 137028546 - 1580863;6480464;6484113 10706604;2270483;11256614;19577542;19453261;19333097;19331172;19086053;19060246;19058221;18716876;18599487;18486628;18381592;17925408;17908800;17904822;17881084;17823238;17727841;17681947;17607711;17578909;17515817;17443289;17369488;17368428;17360581;17098867;17067552;16985521;16940294;16713569;16513091;16381901;16373346;16199533;16169070;16156786;15986444;15949466;15924335;15908427;15840658;15797857;15684595;15489336;15489334;15383276;15184074;15108072;15001987;14715276;14692702;12690205;12477932;11936877;11895915;11809760;11278720;11076863;11016659;10600521;10224041;9739080;9507007;9299545;8889548;8567685;8484780;8484754;8408430;8175719;7592855;1768439;1733956;2388713;1701634;1464612;1457401;20013808;20584902;16814777;19424734;19672298;19749796;19917672;20032204;20308059;20379614;20167557;20738847;20812209;21353611;22783964;23056589;22871361;21881556;21900206;21988832;22848377;23054143;22672269 5764 C9JR52;P21246 AACC02000025;ABBA01001141;ABBA01001142;AC018728;AC078842;AK290488;AK313424;AMYH01017963;AMYH01017964;BC005916;BM968820;BT019692;CH236950;CH471070;CR450338;D90226;M57399;NM_002825;S50409;S60110;S60111;X52946 AAA35961;AAB24425;AAB26456;AAH05916;AAV38498;BAA14261;BAF83177;BAG36216;CAA37121;CAG29334;CAL37775;EAL24052;EAW83869;EAW83870;EAW83871;EAW83872;NP_002816;P21246 Hs.371249 1654966;1670867;1670972;1699954;1700480;1729083;1754925;2110687;2165249;2178536;2180805;7187447 A005E25;D7S2735;GDB:1317188;GDB:1318726;PTN;PTN_2365.2;Ptn;RH103585;RH103861;SHGC-141851;SHGC-56501;STS-AA001449 HARP;HBGF8;HBNF;NEGF1 HB-GAM;HBBM;HBGF-8;HBNF-1;OSF-1;OTTHUMP00000208521;OTTHUMP00000208522;heparin affin regulatory protein;heparin binding growth factor 8;heparin-binding brain mitogen;heparin-binding growth factor 8;heparin-binding growth-associated molecule;heparin-binding neurite outgrowth-promoting factor 1;neurite growth-promoting factor 1;osteoblast-specific factor 1;pleiotrophin;pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) protein-coding ENSG00000105894 9630 01199 162095 VALIDATED 1318604 PTP4A3 protein tyrosine phosphatase type IVA, member 3 This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 q24.3 142501189 142510802 + 142432007 142441620 + 1580863;6480464 17353931;9514946;19424625;19322925;19236507;19214221;19187591;19152186;19115206;19101992;19087692;19009246;19002188;18813812;18684031;18636172;18561324;18268019;18078820;21478108;22340241;18021371;17934070;17717498;17440740;17235563;17018620;16873432;16832410;16505094;16472776;16203771;15788667;15534108;15489334;15161639;15135076;14704153;14654542;12782572;12516958;12477932;12235145;11598267;11355880;10747914;9633825;17545077;19757198;21135111;21320469;17545014;18803057;19132388;19440036;19586538;19846928;19930715;19945467;20140626;20609352;20045518;20806969;20860603;21291404;20516731;21084277;21159255;21806020;23036709;20364335;21466710;22345654;22440248;22595524;23092334;23178297;23362275;12107411;21589872;19040419;21725609;21914394;22261620;22131018;22137788;22331511;22469786;21790231;22028901;19322201;22073279;22825514;22413991;22677902;22995644 11156 E5RFQ4;E5RGR3;O75365 ABBA01013690;AC100803;AF041434;AI742376;AJ276554;AK311257;AMYH01019073;BC003105;BE778111;BQ637038;BT007303;CH471060;NM_007079;NM_032611;U87168 AAB47560;AAC29314;AAH03105;AAP35967;CAC81757;EAW92231;NP_009010;NP_116000;O75365 Hs.744870 1672862 RH41881 PRL-3;PRL-R;PRL3 OTTHUMP00000226811;OTTHUMP00000226812;potentially prenylated protein tyrosine phosphatase;protein tyrosine phosphatase type IVA 3;protein-tyrosine phosphatase 4a3;protein-tyrosine phosphatase of regenerating liver 3 APPROVED protein-coding ENSG00000184489 9636 05922 606449 REVIEWED 1349312 PTPLC protein tyrosine phosphatase-like (proline instead of catalytic arginine), member c 9198 9641 1352872 PTP4A1 protein tyrosine phosphatase type IVA, member 1 This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013] 6 6 q12 64339879 64351448 + 64281920 64293489 + 6480464 10569806;19341304;18997816;18684031;18038187;17656357;17440740;16957164;16832410;16142898;15571731;15501285;15489334;14643450;14574404;12782572;12516958;12477932;12235145;11971983;11447212;11278933;10940933;10747914;9642300;9633825;9018080;17353931;20628624;19199380;21832049;22939629;15342556;18781797;21987572;22009749;19322201;21139048;21890473;21906983;22096494;22484636;18255255;21963094;22413991;23000965;18224294;21053359;21707506;23362275;22505724 7803 J3KSB4;Q5TCM7;Q93096 AB451314;AB451444;ABBA01023959;AF051160;AJ420505;AK312526;AL135905;AMYH01016387;AW136267;BC023975;BC045571;BF436021;BG717869;BI222469;BP264358;BU632706;CA427371;CH471143;CR749458;NM_003463;U48296;U69701 AAB09080;AAB40597;AAC39836;AAH23975;AAH45571;ABM81641;ABM84821;ACE86520;ACE87199;BAG35425;BAG70128;BAG70258;CAH18292;EAW88494;EAW88495;NP_003454;Q93096 Hs.227777;Hs.706850 1644365;1654495;1663883;1785890;1847797;1855318;1855565;2125807;2131227;5109659;7185319 D6S1138E.1;D6S1236E;D6S1860;D6S1862;D6S1901;RH46762;RH46792;RH47348;SHGC-13922;WI-21111 DKFZp779M0721;HH72;PRL-1;PRL1;PTP(CAAX1);PTPCAAX1 OTTHUMP00000016674;OTTHUMP00000016675;PTP(CAAXI);Protein tyrosine phosphatase IVA1;protein tyrosine phosphatase type IVA 1;protein tyrosine phosphatase type IVA protein 1;protein-tyrosine phosphatase 4a1;protein-tyrosine phosphatase of regenerating liver 1 APPROVED protein-coding ENSG00000112245 9634 03349 601585 REVIEWED 1601904 PTPLAD2 protein tyrosine phosphatase-like A domain containing 2 9 9 9 p21.3 20944643 20969914 - 20996365 21021635 - 21006365 21031635 - 6480464 12477932 401494 Q5VWC8 ABBA01065179;AL390882;AL662879;AMYH01019275;BC114215;BX538052;BX648779;CH471071;NM_001010915 AAI14216;CAD97990;EAW58626;NP_001010915;Q5VWC8 Hs.716678 1652216;1690418;2120570;2145695;2161648;5020948;5093056 A009E47;G32493;G35510;RH16145;RH68030;RH93561;STS-Z40712 DKFZp686F01145;DKFZp686G24132;HACD4 3-hydroxyacyl-CoA dehydratase 4;OTTHUMP00000022748;OTTHUMP00000045083;protein tyrosine phosphatase-like protein PTPLAD2;protein-tyrosine phosphatase-like A domain-containing protein 2;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 4 protein-coding 20920 17392 VALIDATED 734245 PTP4A2 protein tyrosine phosphatase type IVA, member 2 The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010] 1 1 p35 32146380 32176575 - 32372022 32403988 - 6480464 9514946;17353931;17440740;16957164;16832410;16710414;16381901;15489336;15489334;14643450;12516958;12477932;12235145;11734337;11447212;11076863;10940933;9018080;8661118;8529999;7490091;20226699;20841483;22623531;17666324;21890473;21906983;21993571;21765462;21963094;21987572;22413991;23000965;22505724 8073 E9PJC0;E9PL34;E9PML8;E9PMY3;E9PRR9;Q15260;R4GN50 ABBA01023445;ABBA01023446;ABBA01023447;ABBA01023448;AF208850;AK292703;AK297280;AL136115;AMYH01000463;AMYH01000464;BC018662;BC070181;BC070182;BI545293;BI552091;BM996809;CH471059;L39000;L48722;L48723;L48937;N21082;NM_001195100;NM_001195101;NM_080391;U14603;U48297 AAA90979;AAB39331;AAB40598;AAB42169;AAB42170;AAB59575;AAF64264;AAH70182;BAF85392;BAG59751;CAL37487;CAL38409;CAL38433;EAX07578;EAX07579;EAX07580;EAX07581;EAX07582;EAX07583;EAX07584;NP_001182029;NP_001182030;NP_536316;Q12974 Hs.470477 1337515;1647569;1674276;1674365;1680351;1682315;1739503;1774621;2116824;2133173;5112021 A006T38;D17S1705;D1S388;D1S396;G44367;RH40091;RH68852;SHGC-33115;WI-11521;WI-21682;WI-8498 HH13;HH7-2;HU-PP-1;OV-1;PRL-2;PRL2;PTP4A;PTPCAAX2;ptp-IV1a;ptp-IV1b OTTHUMP00000003902;PTP(CAAXII);phosphatase of regenerating liver 2;protein tyrosine phosphatase IVA;protein tyrosine phosphatase IVA2;protein tyrosine phosphatase type IVA 2;protein-tyrosine phosphatase 4a2;protein-tyrosine phosphatase of regenerating liver 2 APPROVED protein-coding ENSG00000184007 9635 03348 601584 REVIEWED 1343988 PTPLA protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008] 10 10 10 p14-p13 17565146 17593075 - 17671964 17699379 - 17631958 17659373 - 6480464 19241460;15489334;12477932;11054553;10644438;7829101;16385451;19913121;20628086;17207965;20724468;22067203 9200 A6NP58;B0YJ81;J3KS69;J3KT94 ABBA01034553;AC069542;AF114494;AF266848;AMYH01002067;AW022173;AY455942;BC010353;BC027709;CH471072;EF445016;GN344093;NM_014241 AAF21976;AAG10713;AAH10353;AAR22554;ACA06058;ACA06059;ACA06060;ACA06061;ADQ31829;B0YJ81;CAY55982;EAW86210;EAW86211;NP_055056 Hs.114062 1650394;2177241;5022578 D1S1423;SHGC-56539;STS-N24848 CAP;HACD1 3-hydroxyacyl-CoA dehydratase 1;OTTHUMP00000019240;cementum attachment protein;protein-tyrosine phosphatase-like member A;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1 APPROVED protein-coding ENSG00000165996 9639 10175 610467 REVIEWED 1605074 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 15 15 q22.2 63596687 63657746 + 65822827 65870693 + 6480464 22560525;10747961;17353931;18160438;16516406;16303743;15345747;15302935;14702039;12477932;11042152;8125298;20562859;19656872;21182205;22939629;16196087;21139048;21890473;21906983;21987572;21145461;17110338;23222517;23246001;23438482;22190034 51495 B4DRF4;H3BMZ1;H3BPZ1;H3BRL8;H3BS72;Q9NQA7 ABBA01038847;ABBA01038848;AC011846;AC027220;AF161470;AJ271091;AK027421;AK074857;AK074898;AK225120;AK299234;AL137412;AMYH01006718;AMYH01006719;BC000194;BC009056;BC011443;BC019873;BC035508;BC047685;BC058912;CH471082;DQ251107;H21635;NM_016395 AAF29085;AAH19873;AAH35508;AAH47685;AAH58912;ABB83547;BAB55101;BAC11249;BAC11277;BAG61266;CAB69070;EAW77735;EAW77736;NP_057479;Q9P035 Hs.512973 1655350;2116489;2140727;2153851;5019160 A004R20;D15S1249;RH102970;RH46948;WI-15305 B-IND1;FLJ90376;HACD3;HSPC121 3-hydroxyacyl-CoA dehydratase 3;butyrate-induced protein 1;butyrate-induced transcript 1;hB-ind1;protein tyrosine phosphatase-like protein PTPLAD1;protein-tyrosine phosphatase-like A domain-containing protein 1;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 3 protein-coding ENSG00000074696 24175 11037 VALIDATED 1314901 PTPLB protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b 3 3 3 q21.1 121620589 121710855 - 124693091 124786726 - 123213363 123303924 - 6480464 15024066;16303743;12477932;9110174;8619474;20677014;20379614;21139048;19322201 201562 C9JWG1;H7C4K8;Q6Y1H2 ABBA01016453;ABBA01016454;ABBA01016455;AC020631;AC023165;AC025571;AC084039;AF052159;AK074605;AK289983;AL832532;AMYH01013434;AY191814;BC016990;BC049369;BC060839;NM_198402 AAH49369;AAH60839;AAP20101;BAF82672;NP_940684;Q6Y1H2 Hs.705480 1646516;1653884;1662066;1681594;1697652;1700576;1713181;1716841;1725559;1728011;1762103;2129204;2151127;2179715;5022200;5022651;5037552;5109281 A002V45;D11S2921;D1S1425;D3S2883E;D8S2279;G31456;G61988;G63276;L18426;RH102341;RH103910;RH120377;RH121714;RH27019;RH35888;SHGC-146002;SHGC-34737;SHGC-37000 HACD2 3-hydroxyacyl-CoA dehydratase 2;OTTHUMP00000215716;protein-tyrosine phosphatase-like member B;very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 2 protein-coding 9640 17930 PROVISIONAL 1350462 PTPN17 protein tyrosine phosphatase, non-receptor type 17 5785 9648 1323122 PTPN18 protein tyrosine phosphatase, non-receptor type 18 (brain-derived) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] 2 2 2 q21.1 124386923 124406317 + 130830088 130848614 + 131113580 131132982 + 1580863;6480464 8950995;16341674;16303740;16094384;15951569;15588985;14660651;12554790;12477932;11971877;11163214;11158295;9804817;9422760;9265651 26469 E7EMB8;F8WBM9;Q99952 ABBA01017957;ABBA01017958;AC132479;AK297884;AK303804;AK311140;AMYH01011053;BC024280;BC031076;BC041562;BC052800;BI261717;BM789073;CA310199;CH471263;DN995571;NM_001142370;NM_014369;X79568 AAH24280;AAH41562;AAH52800;AAY24077;BAG60207;BAG64758;CAA56105;EAW55617;EAW55618;EAW55619;EAW55620;EAW55621;NP_001135842;NP_055184;Q99952 Hs.516390 1658373;1664609;1677875;2144904;2152966;2178096;5014051;5015619;5021872;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426;RH11750;RH66204;RH70023;RH80366;SHGC-31844;STS-X79568;sY3084 BDP1;PTP-HSCF OTTHUMP00000162398;OTTHUMP00000204517;OTTHUMP00000204518;brain-derived phosphatase;tyrosine-protein phosphatase non-receptor type 18 APPROVED protein-coding ENSG00000072135 9649 05961 606587 REVIEWED 1605594 PTPMT1 protein tyrosine phosphatase, mitochondrial 1 11 11 11 p11.2 47729717 47737744 + 47543705 47549946 + 47586982 47595013 + 6480464 16344560;16341674;15489334;15247229;12477932;8889548;17207965;21900206;21145461;21963094;23326511 114971 E9PQM0;Q8WUK0 ABBA01060700;ABBA01060701;ABBA01060702;AC090559;AC104942;AF277187;AK294640;AMYH01003544;AY333987;BC014048;BC018974;BC020242;BC073798;BC107573;BM702054;BM750411;BQ050653;CH471064;DA476984;DR004030;NM_001143984;NM_175732 AAH14048;AAH20242;AAK07545;AAP94732;ACE86451;ACE87127;ADQ32394;BAG57819;EAW67905;NP_001137456;NP_783859;Q8WUK0 Hs.656205;Hs.742231 1712915;2128244;2217508 KBTBD4_3651;RH121093;RH47256 DUSP23;FLJ46081;MOSP;PLIP;PNAS-129 NB4 apoptosis/differentiation related protein;OTTHUMP00000234343;OTTHUMP00000234345;OTTHUMP00000234346;OTTHUMP00000234347;PTEN-like phosphatase;phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1;phosphoinositide lipid phosphatase;protein-tyrosine phosphatase mitochondrial 1 protein-coding 26965 609538 VALIDATED 1317339 PTPN14 protein tyrosine phosphatase, non-receptor type 14 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010] 1 1 q32.2 212597634 212791265 - 214522039 214725024 - 1580863;6480464;7240710 7733990;18677119;17081983;16534812;15324660;14702039;12808048;12477932;10934049;10600535;10400706;10212280;7545953;20826270;16344560;20379614;23402259;17314511;22233626;22525271;15717329;22118674;17979178;21150319;21963094;22689061;23000965;22948661 5784 A8K6H6;E2J9M0;Q15678 ABBA01048143;ABBA01048144;ABBA01048145;ABBA01048146;ABBA01048147;ABBA01048148;AF086517;AK056963;AK090596;AK291641;AK298120;AL445305;AL592216;AL603838;AL929236;AMYH01001717;AMYH01001718;AMYH01001719;AMYH01001720;AW192897;BC017300;BC101754;BC104803;CH471100;DA738908;HQ116786;NG_028036;NM_005401;X82676;Z23491 AAH17300;AAI01755;AAI04804;ADN23590;BAF84330;BAG60402;CAA57993;EAW93351;NP_005392;Q15678 Hs.193557 1335730;1645177;1647480;1651505;1692902;1715969;1766203;1792860;1851470;1855426;2177363;2217870;5037552;5093544;5109281 A009Q27;AL034163;D1S1425;D1S1778E;D1S2195;D1S419;D8S2279;G32781;PMC166143P2;PTPN14_2926;RH122727;SHGC-149569;SHGC-76337;SHGC-76338;STS-X82676 MGC126803;PEZ;PTP36 OTTHUMP00000035094;cytoskeletal-associated protein tyrosine phosphatase;protein-tyrosine phosphatase pez;tyrosine-protein phosphatase non-receptor type 14 APPROVED protein-coding 9647 04402 603155;613611 REVIEWED 1346224 PTPN12 protein tyrosine phosphatase, non-receptor type 12 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] 7 7 q11.23 77004771 77107322 + 77166773 77269388 + 1580863;6480464 9285683;8454633;19167335;1472029;17608818;17329398;17130234;17081983;16964243;15831474;15588985;15489334;15231748;15146197;15122254;14707117;12853948;12714323;12690205;12674328;12665801;12477932;12052829;11971877;11950600;11731619;11711533;11432829;11337490;11314030;11163214;11158295;10940933;10625692;10400685;10092676;10085298;9920935;9857189;9847074;9804817;9748319;22429674;9497381;9422760;9135065;8887669;8626541;8349645;7929214;7520867;7509295;1932742;11577104;20029029;20519451;19919952;10400703;11342545;12231407;18029348;21376233;22863883;21832049;22644489;21483099;21876001;21139048;21706016;22458809;18559503;19380743 5782 A4D1C5;B4E105;C9J1X8;C9JJC1;C9JYA4;E9PBR5;F8WB51;H0YB59;H0YC15;H3BM04;Q05209 AB209524;ABBA01058010;ABBA01058011;AC006451;AK289573;AK296764;AK303602;AK314236;AMYH01017631;BC026004;BC050008;CH236949;CH471091;CN395133;D13380;M93425;NG_008394;NM_001131008;NM_001131009;NM_002835;S69182;S69183;S69184 AAA36529;AAB30045;AAB30046;AAB30047;AAH50008;AAQ96881;BAA02648;BAD92761;BAF82262;BAG59344;BAG64617;EAL24198;EAW77036;EAW77037;NP_001124480;NP_001124481;NP_002826;Q05209 Hs.61812 1657982;1662550;1740651;1751145;1771588;1798042;2115257;2123160;2132468;2139222;2163925;5015863 D20S1000;G06466;GDB:1317318;GDB:1317990;GDB:1318038;GDB:1318515;GDB:1318521;GDB:305494;PTPN12;PTPN12_1837;RH77974;SHGC-105103 PTP-PEST;PTPG1 OTTHUMP00000161275;OTTHUMP00000208615;OTTHUMP00000208616;protein-tyrosine phosphatase G1;tyrosine-protein phosphatase non-receptor type 12 APPROVED protein-coding ENSG00000127947 9645 02513 600079 REVIEWED 1351239 PTPN20CP protein tyrosine phosphatase, non-receptor type 20C, pseudogene 10 10 q11.22 48969180 49018572 - 49299273 49348465 - 653045 AC013284;AL603966;AMYH01002628;AMYH01002629;AMYH01002630;AMYH01002631;AMYH01002632;AMYH01002633;NG_005691 bA164N7.3 APPROVED pseudo 23424 INFERRED 1343639 PTPN1 protein tyrosine phosphatase, non-receptor type 1 The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 20 20 q13.1-q13.2 48560298 48634495 + 49126891 49201088 + 1625124;1625240;1580595;1580863;2289366;2293185;2290530;6480464;6484113;6907045;7240710 17347799;11833006;12850498;15821101;7711057;16426581 11106648;12907755;16291744;17159996;19167335;18074158;11742412;10748206;19491387;19435911;19208619;19008309;18957266;18925540;18854601;18846048;18840608;18819921;18716132;18660489;18636124;18571728;18387954;18332219;18253097;18077048;17974954;17643420;17634210;17560463;17509747;17403124;17339316;17333110;17240976;17185494;17135270;17092689;17081983;17081112;17056636;16713994;16677372;16652382;16644720;16505227;16407290;16344560;16289152;16249458;16115959;15998263;15919835;15919813;15894168;15866871;15737620;15715684;15592455;15588985;15504985;15504984;15489334;15258570;15235769;15189365;15097232;15039022;15031294;14976221;14722096;14514610;12857726;12802339;12802338;12634852;12573287;12554649;12547827;12504077;12477932;12468645;12446583;12424235;12414790;12388170;12377785;12365558;12354677;12237455;12176037;12082107;11836311;11788587;11780052;11756316;11703427;11694501;11579209;11506178;11316810;11163213;11136729;11007774;10940933;10889023;10660596;10480872;10350489;9922143;9600099;9566916;9553104;9499405;9418872;9407132;9391040;9355745;9261115;8999839;8940134;8940099;8826975;8647855;8621392;8491187;8389479;8128219;7935344;7693694;7545675;7544790;7540771;7539106;7514173;7510677;2546149;2164224;2157211;1739967;11726652;21442314;22655028;20504764;20578946;20628624;20682687;20601126;20952588;16005629;16582879;18029348;19578796;19589142;19782770;19948975;20000419;20059965;20101100;20118922;20131294;20177231;20236928;20416077;20493809;20030748;20388125;20615878;20864346;20627780;20937240;21188419;21123182;22939629;20871154;21411736;21487008;23129613;21632985;21707536;21676396;21513978;21795709;21869483;21913686;22474028;21139048;21906983;21972092;22045810;22031842;22450318;21849469;22169477;21959757;22282656;22509299;22609202;22698963;23439647;20467438;21988832;22304920;22404968;23176256;14966296;22701734;23428800 5770 A8K3M3;B4DSN5;P18031 ABBA01052781;AI474453;AK290638;AK299830;AK316563;AL034429;AL133230;AMYH01011973;AU117677;AY029236;BC015660;BC018164;BT006752;CH471077;CS569123;DB332370;DC300354;HD122567;HI639118;JA420824;M31724;M33684;M33689;NG_012119;NM_001278618;NM_002827 AAA60157;AAA60158;AAA60223;AAH15660;AAH18164;AAK31734;AAP35398;BAF83327;BAG38152;BAG61697;CAN59693;CBW46546;CBX55888;CCD32728;EAW75624;EAW75625;EAW75626;NP_001265547;NP_002818;P18031 Hs.417549 1693352;1774734;1791610;1791612;1798044;2119262;2179729 AL034534;PMC117295P1;PMC117295P2;PTPN1_1850;RH11093;RH45266;STS-M31724 PTP1B OTTHUMP00000031266;protein tyrosine phosphatase 1B;protein tyrosine phosphatase, placental;protein-tyrosine phosphatase 1B;tyrosine-protein phosphatase non-receptor type 1 APPROVED protein-coding ENSG00000196396 9642 01477 125853;176885 REVIEWED 1349944 PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008] 4 4 q21.3 87734909 87955326 + 87515468 87736329 + 1580863;6480464;6484113 10918185;17657516;7536343;7929060;19240061;19004008;18684861;18195016;18038312;17982484;17638892;17240990;16888780;16572203;16489062;16344560;16306044;15894934;15782144;15663004;15611135;15489334;15371306;14702039;14596806;14516276;12870871;12839623;12724420;12477932;12436199;12354757;12095257;22279592;11959286;11884147;11696979;11356191;11329013;11106428;10951583;10826496;10704206;10660140;10544233;10526152;9920925;9882613;9835052;9305890;9261095;9079683;8824809;8287977;8071359;10400701;20839809;16498403;19672627;19734941;19892796;20039457;20379614;20453000;20620960;20501847;12907755;21235435;21741956;22364882;19850743;21139048;22262849;22274591;23209399;23604317;23519466 5783 D6R9M4;D6R9X4;Q8IWH7 AB208904;ABBA01063505;ABBA01063506;ABBA01063507;ABBA01063508;ABBA01063509;ABBA01063510;ABBA01063511;ABBA01063512;ABBA01063513;AC097657;AC105413;AC110076;AF101267;AF233323;AK056151;AMYH01014371;BC039610;BC139915;BC140777;BC144520;BG202767;BX647553;CH471057;D21209;D21210;D21211;DA625835;JA362582;L34583;NG_029704;NM_006264;NM_080683;NM_080684;NM_080685;U12128;U12129;U12131;U12132;X79676;X80289 AAB60339;AAC41755;AAF63474;AAH39610;AAI40778;AAY40972;BAA04750;BAA04751;BAA04752;BAD92141;CAA56124;CAA56563;CAH10380;CCA94573;EAX05965;EAX05966;EAX05967;EAX05968;NP_006255;NP_542414;NP_542415;NP_542416;Q12923 Hs.436142 1338920;1649260;1667197;1670960;1681612;1796590;2121068;2126413;2129350;2142356;2146815;5020948;5037552;7183823 D4S1542;D4S2622;D4S2844;D4S3193;D4S3439;D4S824;D8S2279;G35510;PTPN13_1371;SHGC-50681;SHGC-59253;SHGC-67290;SHGC-67903 DKFZp686J1497;FAP-1;PNP1;PTP-BAS;PTP-BL;PTP1E;PTPL1;PTPLE;hPTP1E APO-1/CD95 (Fas)-associated phosphatase;Fas-associated phosphatase-1;OTTHUMP00000219449;OTTHUMP00000219450;OTTHUMP00000219451;OTTHUMP00000219452;PTP-E1;fas-associated protein-tyrosine phosphatase 1;hPTPE1;protein tyrosine phosphatase 1E;protein tyrosine phosphatase, nonreceptor type 13;protein-tyrosine phosphatase 1, Fas-associated;protein-tyrosine phosphatase 1E;protein-tyrosine phosphatase PTPL1;tyrosine-protein phosphatase non-receptor type 13 APPROVED protein-coding ENSG00000163629 9646 02602 600267 REVIEWED 731746 PTPN11 protein tyrosine phosphatase, non-receptor type 11 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 12 12 q24 111340919 111432100 + 112856536 112947717 + 1581292;1601571;1580863;2289807;1641809;2293185;1642762;2299174;1299201;2290530;5686834;6480464;6484113;6907045;7240710 11992261;12058348;17872473;17021051;7711057;14685170;18175071;12891559;16426581;22029668 15690106;15644411;15592455;15563458;15556604;15539800;15521065;15520399;15489334;15389709;15385933;15384080;15282682;15240615;15187115;15121796;15001945;14991917;14982869;14961557;14701753;14644997;14522994;12960218;12959980;12796776;12774026;12752577;12739139;12717436;12707331;12676785;12634870;12552462;12543077;12531430;12529711;12529707;12522270;12477932;12403768;12399420;12384786;10734310;14560030;14665621;15574420;7681589;9658397;9792637;1280823;9054388;19351817;19336370;19290061;19287004;19275884;19261604;19240061;19206169;19189703;19166311;19160029;19133693;19133257;19120036;19096001;19077116;19066472;19056419;19047918;19020799;18832710;18829466;18827006;18728972;18712962;18660489;18647419;18643929;18640765;18617527;18593762;18577518;18564921;18562489;18559669;18543080;18381291;18372317;18331608;18246201;18241070;18223690;18203203;18159945;17972951;17962719;17942397;17910045;17875892;17717529;17672918;17664338;17561098;17546245;17515436;17497712;17453145;17403678;12370245;9528781;9491886;9485206;9344843;9285412;9254654;9195977;9195950;9188788;9162089;9110989;9110174;9062191;9029147;8995399;8986614;8959326;8943348;8943344;8912646;8910607;8810330;8766558;8702859;8662733;8639815;8638161;8619474;8530013;8505282;8216283;8183573;8135823;8041791;7935386;7894486;7691811;7681217;7673163;7642582;7589239;7559603;7523381;7522233;7493946;1370651;1281790;12824191;18519587;9847309;10382761;12051764;10903717;9973385;11360177;12135708;11782427;11334882;10391903;9388212;10080542;9362449;9632636;11689425;9188452;10801826;10350061;9774457;11266449;16729043;15128762;8879209;9422771;11328818;15856031;12582165;9600074;12325025;12270932;12177051;12176037;12161596;12161469;12115002;12108545;12070037;12060651;11986327;11956229;11940581;11896619;11812650;11806999;11786908;11781100;11743164;11739737;11714803;11704759;11602579;11594781;11544253;11491537;11489943;11466412;11447289;11433379;11432792;11414741;11389028;11323411;11287610;11278955;11223155;11134009;11036942;11018044;10991949;10976913;10962556;10949653;10946280;10940933;10880513;10800945;10790433;10747947;10681592;10681522;10671568;10660620;10655584;10650943;10617656;10521483;10499918;10457220;10449753;10212213;10209036;10206955;10082579;10068651;9918857;9867848;9824671;9756938;9632781;9565634;9535915;17339163;17330262;17272397;17235629;17214991;17213291;17211494;17211446;17185494;17177198;17143285;17053061;17052965;17028265;17020470;16920701;16914719;16905534;16825188;16762922;16684964;16679933;16598312;16533526;16523510;16518851;16498234;16488201;16380919;16360206;16358218;16354697;16344560;16339483;16306077;16250012;16208280;16094384;16053901;16032704;16030196;15987685;15985475;15985432;15956085;15951569;15951301;15948193;15940693;15928039;15888547;15834506;15747776;15725481;15723289;15708852;8195176;8890167;11477068;7688466;22788847;23029125;22504523;21575863;20634891;20543023;22711165;20840817;20631249;20671117;20472558;20512931;21047965;20578946;20700123;20398180;20734064;20880116;21048031;21060863;19690960;19874312;20673499;10022928;10327049;10381539;10386953;10871282;11136824;11157475;11353842;11382784;11751924;12237455;12681492;14534538;14687660;15031289;15062102;15102829;15133037;15169898;15507525;15588985;15601262;16337946;16963136;17554300;18758896;19172738;19352411;19427850;19449407;19509418;19528235;19582499;19589142;19589868;19681119;19706677;19725129;19735729;19737548;19768645;19773259;19776760;19820697;19822020;19864201;19915046;20004456;20006740;20080972;20170098;20186801;20237281;20302979;20308328;20453000;8197172;8541543;9282923;9379041;9405464;20237506;20064076;20577567;20718194;20954246;20855525;20301303;20829714;21145937;21419049;21365683;21670473;21068439;20958258;21169408;20723025;21106241;22869052;22777296;22806893;22939629;22391158;22629427;21528083;21533187;21572416;1626183;22644489;21531714;21548061;11171044;15356145;22411627;22777356;22863883;22974441;22890240;21407260;21663700;21887223;23189174;15146197;22228034;21139048;21890473;21903867;22043923;12577067;20301557;22260263;22493691;12444928;17330819;19322201;19909739;21590266;21726809;22589543;9756944;9886492;22503907;22681964;22628433;10777583;17138568;17157259;23045525;23065156;23269672;11224527;16273093;19738201;21565611;21706016;22956765;23000965;14982882;23192641;23530062;23457302;19380743;20697350;22891281;22942432;9361008;9804835;22781091;23335101;22139419;22711529;23263486;23297363;23401857 5781 H0YF12;Q06124 ABBA01019934;ABBA01019935;ABBA01019936;ABBA01019937;AC004086;AC004216;AK289854;AK312147;AMYH01004754;AU123593;BC007869;BC008692;BC025181;BC030949;BF515187;BT007106;BX537632;CH471054;CN258646;D13540;EU779706;EU779707;EU779708;L03535;L07527;L08807;NG_007459;NM_002834;NM_080601;S39383;S78088;U79291;X70766 AAA17022;AAA36611;AAB21148;AAH08692;AAH25181;AAH30949;AAP35770;ACE60554;ACE60555;ACE60556;BAA02740;BAF82543;BAG35082;CAA50045;EAW98011;EAW98012;NP_002825;NP_542168;Q06124 Hs.506852 1342050;1774844;1796588;1858273;2127739;2133207;2166444;2180929;5094066;5124615 D12S1863;D12S1920;D12S84;G34953;PTPN11_1308;RH67010;RH78116;SHGC-30316;WI-18740;WI-7628 BPTP3;CFC;MGC14433;NS1;PTP-1D;PTP2C;SH-PTP2;SH-PTP3;SHP2 OTTHUMP00000166107;OTTHUMP00000166108;PTP-2C;protein tyrosine phosphatase, non-receptor type 11;protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1);protein tyrosine phosphatase-2;protein-tyrosine phosphatase 1D;protein-tyrosine phosphatase 2C;tyrosine-protein phosphatase non-receptor type 11 APPROVED protein-coding ENSG00000179295 9644 01470 151100;156250;163950;176876;607785 REVIEWED 1348879 PTPN2P1 protein tyrosine phosphatase, non-receptor type 2 pseudogene 1 1 q25.2 178715479 178716965 - 8325634;11181995;8325634 5772;646981 ABBA01027827;AL162255;AMYH01001525;CH471067;NG_006956 EAW91031 PTPN2P;PTPTP1 APPROVED pseudo 9653 INFERRED 1352343 PTPN2P2 protein tyrosine phosphatase, non-receptor type 2 pseudogene 2 13 13 q12.3 30025808 30026947 + 31127808 31128947 + 8325634;8325634 5773;646758 ABBA01035694;AL353648;AMYH01005010;NG_011398;XM_301455 1676356 RH12560 APPROVED pseudo 9654 INFERRED 1344444 PTPN20A protein tyrosine phosphatase, non-receptor type 20A The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more centromeric copy, PTPN20A. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 q11.22 45970129 46061009 - 46550123 46641003 - 6480464 15790311;12477932 653129 D6RC68;D6RF36;G8JLF9;Q4JDK3;Q5RJ33;Q5T1G4 AL050040;AL450334;AL672108;AMYH01002612;AMYH01002613;AMYH01002614;AMYH01002615;AMYH01002616;AMYH01002617;AMYH01002618;AMYH01002619;AMYH01002620;AMYH01002621;AMYH01002622;AMYH01002623;AMYH01002624;AMYH01002625;AMYH01002626;AMYH01002627;AMYH01002628;AMYH01002629;AMYH01002630;AMYH01002631;AMYH01002632;AMYH01002633;AY704141;AY704142;AY704143;AY704144;AY704145;AY704146;AY704147;AY704148;AY704149;AY704150;AY704151;AY704152;AY704153;AY704154;AY704155;AY704156;AY704157;AY704158;AY753191;BC036539;BC093750;BC113473;BC143394;BC171725;BX648913;CR933668;NM_001042387;NM_001042389;NM_001042390;NM_001042391;NM_001042392;NM_001042393;NM_001042394;NM_001042395;NM_001042396;NM_001042397 AAH93750;AAI13474;AAI43395;AAI71725;AAW28780;AAW28781;AAW28782;AAW28783;AAW28784;AAW28785;AAW28786;AAW28787;AAW28788;AAW28789;AAW28790;AAW28791;AAW28792;AAW28793;AAW28794;AAW28795;AAW28796;AAW28797;AAW88572;CAB43248;CAI12199;CAI12200;CAI12201;CAI15684;CAI15685;CAI15686;CAI45965;NP_001035846;NP_001035848;NP_001035849;NP_001035850;NP_001035851;NP_001035852;NP_001035853;NP_001035854;NP_001035855;NP_001035856;Q4JDL3 Hs.440733 CT126;MGC142033;PTPN20B;bA142I17.1;hPTPN20 OTTHUMP00000019514;OTTHUMP00000019515;OTTHUMP00000019516;OTTHUMP00000217122;OTTHUMP00000217123;OTTHUMP00000217124;OTTHUMP00000217125;OTTHUMP00000217126;OTTHUMP00000217127;OTTHUMP00000217128;OTTHUMP00000217171;OTTHUMP00000217172;OTTHUMP00000217173;OTTHUMP00000217174;OTTHUMP00000217177;OTTHUMP00000217220;OTTHUMP00000217221;OTTHUMP00000217223;cancer/testis antigen 126;tyrosine-protein phosphatase non-receptor type 20 APPROVED protein-coding ENSG00000204179 23422 610630 REVIEWED 1353047 PTPN20B protein tyrosine phosphatase, non-receptor type 20B The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more telomeric copy, PTPN20B. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q11.22 45164481 45182568 - 48357048 48447930 - 48737042 48827924 - 6480464 15790311;12477932 26095 D6RC68;D6RFJ1;G8JLF9;Q4JDK3;Q5RJ33;Q5T1G4;Q9Y406 ABBA01000033;AL050040;AL358791;AMYH01002429;AMYH01002512;AMYH01002513;AMYH01002514;AMYH01002515;AMYH01002516;AMYH01002517;AMYH01002518;AMYH01002519;AMYH01002520;AMYH01002521;AMYH01002522;AMYH01002523;AMYH01002524;AMYH01002525;AMYH01002526;AMYH01002527;AMYH01002528;AMYH01002529;AMYH01002530;AMYH01002531;AMYH01002532;AMYH01002533;AMYH01002534;AMYH01002535;AMYH01002536;AMYH01002537;AMYH01002538;AMYH01002539;AMYH01002540;AMYH01002541;AMYH01002542;AMYH01002543;AMYH01002544;AY704141;AY704142;AY704143;AY704144;AY704145;AY704146;AY704147;AY704148;AY704149;AY704150;AY704151;AY704152;AY704153;AY704154;AY704155;AY704156;AY704157;AY704158;AY753191;BC036539;BC093750;BC113473;BC143394;BC171725;BU567804;BX005072;BX648913;CH471251;CR933668;NM_001042357;NM_001042358;NM_001042359;NM_001042360;NM_001042361;NM_001042362;NM_001042363;NM_001042364;NM_001042365;NM_015605 AAH93750;AAI13474;AAI41461;AAI43395;AAI71725;AAW28780;AAW28781;AAW28782;AAW28783;AAW28784;AAW28785;AAW28786;AAW28787;AAW28788;AAW28789;AAW28790;AAW28791;AAW28792;AAW28793;AAW28794;AAW28795;AAW28796;AAW28797;AAW88572;CAB43248;CAI45965;EAW50662;NP_001035816;NP_001035817;NP_001035818;NP_001035819;NP_001035820;NP_001035821;NP_001035822;NP_001035823;NP_001035824;NP_056420 Hs.440733;Hs.499552 DKFZp566K0524;DKFZp781P23155;bA42B19.1 OTTHUMP00000019540;OTTHUMP00000019541;OTTHUMP00000019542;OTTHUMP00000217230;OTTHUMP00000217231;OTTHUMP00000217233;OTTHUMP00000217234;OTTHUMP00000217235;OTTHUMP00000217236;OTTHUMP00000217237;OTTHUMP00000217238;OTTHUMP00000217239;OTTHUMP00000217240;OTTHUMP00000217241;OTTHUMP00000217242;OTTHUMP00000217243;OTTHUMP00000217244;OTTHUMP00000217247;protein tyrosine phosphatase, non-receptor type 20 APPROVED protein-coding ENSG00000183675 23423 10898 610631 REVIEWED 1317504 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009] 1 1 p13.2 114157960 114215857 - 114356433 114414375 - 1580863;5147973;6480464;6484692;6484550;6484551;6484548;6484549;6484552;6484535;6484673;6484670;6484592;6484733;6484734;6484538;6484668;6484722;6484553;6484595;6484524;6484667;6484723;6484729;6484710;7240710 17092257;21873553;15934099;21131644;15719322;18301444;16015369;15208781;21597364;22493691;21410964;17660222;16829308;15504986;18587394;19693092;21846984;21279993;15004560;22374238;19563523;18764813;20070289 16461343;19167335;10068674;19527514;19516267;19503742;19473815;19470526;19419839;19406179;19371084;19357851;19343596;19328948;19327125;19265110;19264985;19248096;19237203;19210888;19210878;19188433;19180477;19180256;19141582;19115939;19107641;19090780;19084113;19073967;19046301;19034456;19028372;19019335;18981062;18978792;18923449;18839133;18821667;18818748;18812394;18804983;18794853;18759295;18710467;18687223;18668548;18580482;18578611;18576360;18556337;18535030;18533277;18489434;18474664;18466535;18466531;18466515;18466513;18466483;18466472;18466461;18462498;18426414;18398946;18375974;18375541;18341666;18310307;18305142;18299186;18292987;18252906;18248681;18240242;18204446;18200060;18194462;18194365;18179648;18156150;18078626;18065500;18056891;18056643;18037273;18028494;18001305;17982455;17961971;17961776;17941906;17934143;17931634;17878369;17868256;17854359;17804836;17729039;17697317;17696275;17666451;17666450;17665434;17661906;17660221;17632545;17624340;17600378;17579671;17554300;17554260;17553139;17493151;17472988;17452059;17436241;17341507;17334650;17259401;17237219;17223967;17170052;17159887;17158136;17148556;17135225;17133608;17133579;17130532;17066073;17054449;17034023;17003357;17000021;16893384;16870103;16868974;16764945;16760194;16750991;16697661;16690758;16690411;16671954;16671953;16635271;16614815;16539704;16507123;16507117;16490755;16470599;16464986;16456530;16437561;16391555;16385499;16380915;16344560;16322396;16320352;16279844;16279843;16277672;16273109;16229750;16185328;16185327;16175503;16164701;16163373;16112033;16107870;16098055;16078327;16052563;16052172;15986374;15943829;15933742;15883854;15875058;15790351;15759012;15734872;15674368;15641088;15641066;15620463;15531553;16339849;21102463;22614276;22327470;15273934;12764153;12477932;11882361;10940933;9582365;1373816;19438904;20739780;20453842;19913121;20141578;20549515;20553389;20560680;20560812;20604892;20615141;20628086;20696024;20707220;20805278;20008090;19177473;20083307;20522204;19760754;20822712;20848568;20849903;20881011;20888443;20921970;20962850;20965855;20975833;21054240;21078766;20538612;19430480;19503088;19567623;19586056;19648126;19648290;19714314;19714585;19741008;19780033;19815302;19833889;19895409;19898480;19951419;19956096;20014019;20015215;20016199;20033399;20039785;20088380;20089178;20090771;20101775;20166877;20176734;20203524;20233754;20331840;20353580;20378605;20388740;20403149;20410501;20438787;20439292;20445565;20476860;20498205;20510318;20518841;20204370;21044313;22743847;22891215;22632125;21352425;21429197;21818561;22572103;22722472;21585555;21506938;21719704;21467606;21543514;21113673;21752868;21287672;21384170;21724255;22105996;22150086;21804190;21515266;21599705;22396730;21965649;22069277;21688149;21908482;22210423;22212723;23570882;21706348;21829393;22427951;22511809;22513164;22569400;21923648;21949702;22003931;22068554;21193990;21956362;22197427;22209972;22237046;22357962;22429252;22880107;23076337;23480181;23291413;22661643;22857794;23054006;23055271;23128233;23251661;23380085;22505724;22952725;22544573;22696186;22704547 26191 B4DZW8;E9PLD8;E9PM87;E9PMK2;E9PMT0;F5H2S8;Q8WVM1 AA836401;ABBA01068458;AF001846;AF077031;AF150732;AK303124;AK310570;AK310698;AL137856;AMYH01000963;AMYH01000964;BC017785;BC071670;CH471122;DB145424;DN997966;EF064714;GU479452;JN084012;NG_011432;NM_001193431;NM_012411;NM_015967;U69700 AAB09079;AAD00904;AAD27764;AAF67472;AAH17785;AAH71670;ABK41897;ADD59979;AEL79472;BAG64230;EAW56573;EAW56574;EAW56575;EAW56576;NP_001180360;NP_036543;NP_057051;Q9Y2R2 Hs.535276 1656516;1676752;1692954 AL034193;RH117;SHGC-75350 LYP;LYP1;LYP2;PEP;PTPN8 OTTHUMP00000013720;OTTHUMP00000013721;OTTHUMP00000233450;OTTHUMP00000233451;PEST-domain phosphatase;hematopoietic cell protein-tyrosine phosphatase 70Z-PEP;lymphoid phosphatase;lymphoid-specific protein tyrosine phosphatase;protein tyrosine phosphatase, non-receptor type 8;tyrosine-protein phosphatase non-receptor type 22 APPROVED protein-coding ENSG00000134242 9652 06100 152700;180300;222100;600716 REVIEWED 734205 PTPN21 protein tyrosine phosphatase, non-receptor type 21 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008] 14 14 14 q31.3 68977718 69066716 - 88001875 88090876 - 88932122 89021123 - 1580863;6480464 7519780;19000305;18223254;16918960;16344560;15143158;11013262;10585123;9685376;7838537;12477932;20923765;8889548;21752600 11099 G3V1Q9;G3V3S6;H0YJ59;Q16825 ABBA01030529;ABBA01030530;ABBA01030531;AI800682;AK310480;AL049834;AL162171;AL353786;AMYH01005933;AMYH01005934;AMYH01005935;BC143846;BC143847;BM930068;CH471061;DA860560;NM_007039;X79510 AAI67856;CAA56042;CAD19000;EAW81382;EAW81383;NP_008970;Q16825 Hs.437040 1658599;1664435;1688398;1775594;1848983;2161364;2168061;2185805 D14S1322;D14S1347;G35383;G35957;G36125;RH70921;RH91423;SHGC-35706 PTPD1;PTPRL10 OTTHUMP00000244372;dJ1175B15.2 (protein tyrosine phosphatase, non-receptor type 21);protein tyrosine phosphatase D1;protein-tyrosine phosphatase D1;tyrosine-protein phosphatase non-receptor type 21 APPROVED protein-coding ENSG00000070778 9651 04468 603271 REVIEWED 733575 PTPN2 protein tyrosine phosphatase, non-receptor type 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011] 18 18 p11.3-p11.2 12775480 12874334 - 12785477 12884334 - 1580863;2290530;6480464 16426581 12907755;16293614;2546150;19422935;19336676;19264985;19240061;19174780;19073967;18978792;18948751;18936107;18840653;18819921;18593762;18587394;18519826;18438405;17554300;17554261;17554260;16595549;15696169;15632081;15592458;15588985;15539083;15509512;15489334;15192089;15030318;14966296;14600148;12847239;12612081;12477932;12459463;12359225;12171910;12138178;11909529;11907034;11773439;10488121;9488479;9261175;8325634;8125298;7593185;2164224;1849097;1731319;15778465;22105363;21102463;21987459;19171783;21115548;19760754;20886065;20962850;21072187;20689057;10940933;20940300;19430480;19565500;19615732;19755676;19818778;19861958;19898481;19922411;19951419;20059965;20088380;20190752;20203524;20222910;20379614;20403149;20473312;17207965;21383967;21300955;21220691;16344560;21246196;21179116;17210636;23124138;23166300;21551237;22960018;22939629;21876762;22377701;21791476;21984578;23454379;21906983;21829393;22446963;22021207;22294642;22318606;22457781;22404968;22960999;23128233;22671594;22671596;22233524;23328081;22426692 5771 A8K3N4;K7EIE9;K7EIY0;K7ELS9;K7ENG3;K7ENP9;K7EQG9;K7ER87;K7ERU1;P17706;Q59F91 AB209569;ABBA01074028;ABBA01074029;ABBA01074030;ABBA01074031;AK225706;AK290649;AK292570;AMYH01008839;AMYH01008840;AP001077;AP002449;AP005482;AW592324;BC008244;BC016727;BG699440;BQ010946;CH471113;DB350067;EF445017;M25393;M80737;M81478;NG_029116;NM_001207013;NM_002828;NM_080422;NM_080423;X93568 AAA65997;AAH08244;AAH16727;ACA06062;ACA06063;ACA06064;ADQ31949;ADZ15738;BAD92806;BAF83338;BAF85259;EAX01532;EAX01533;EAX01534;EAX01535;EAX01536;EAX01537;EAX01538;EAX01539;NP_001193942;NP_002819;NP_536347;NP_536348;P17706 Hs.654527;Hs.663373 1664243;1664407;1676356;1685518;1742389;1742957;2144313;5021872;5022383;5024761;5109281 D1S1425;ECD04345;GDB:196599;GDB:217060;RH12560;RH36905;RH65175;SGC31554;STS-M78585;STS-N53696;sY3084 PTN2;PTPT;TC-PTP;TCELLPTP;TCPTP OTTHUMP00000162485;OTTHUMP00000162486;OTTHUMP00000162487;T-cell protein tyrosine phosphatase;T-cell protein-tyrosine phosphatase;tyrosine-protein phosphatase non-receptor type 2 APPROVED protein-coding ENSG00000175354 9650 06768 176887 REVIEWED 1322781 PTPN3 protein tyrosine phosphatase, non-receptor type 3 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 9 9 q31 111180337 111265557 - 112137974 112260593 - 1580863;6480464 22334442;1648725;12207026;18978678;17947517;17921143;17588219;17166906;16930557;16344560;15588985;14702039;14672952;12477932;10940933;10364224;9341175;8253532;7874267;1626183;15778465;20936779;12907755;19167335;20332238;21119599;15161933;22730326 5774 B7Z3V3;B7Z8K9;B7Z9V1;B7ZA03;J3KN34;P26045;Q8N4S3 ABBA01042761;ABBA01042762;ABBA01042763;AK096975;AK295875;AK296265;AK296388;AK303608;AK304434;AK308349;AK316066;AK316118;AL162733;AL359963;AL450025;AMYH01021621;BC033716;BC063287;BC126117;BC143848;BU624870;BX648253;BX648735;CH471105;CR749204;DB173093;DB306298;DC342461;DQ104439;M64572;NM_001145368;NM_001145369;NM_001145370;NM_001145371;NM_001145372;NM_002829;NR_026918;S39392;S76309;W15441 AAA35647;AAB22439;AAB33583;AAH33716;AAI26118;AAI43849;AAZ20185;ADR83422;BAH12211;BAH12296;BAH12339;BAH13995;BAH14184;BAH14437;BAH14489;CAH18062;EAW59045;EAW59046;EAW59047;NP_001138840;NP_001138841;NP_001138842;NP_001138843;NP_001138844;NP_002820;P26045 Hs.436429 1666606;1673506;1683321;1774535;1787016;1798046;1854958;2129594;2136707;2177651;2178319;5093696 A009V09;D9S1693;D9S1760;D9S58;G32870;PTPN3_2445;RH48492;RH78381;RH91146;SHGC-149695;STS-W15441;WI-10390 DKFZp686N0569;PTP-H1;PTPH1 OTTHUMP00000021885;PTP-H1;cytoskeletal-associated protein tyrosine phosphatase;protein tyrosin phosphatase H1;protein-tyrosine phosphatase H1;tyrosine phosphatase;tyrosine-protein phosphatase non-receptor type 3 APPROVED protein-coding ENSG00000070159 9655 06767 176877 REVIEWED 736589 PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 11 11 11 p15.1 18885312 18948746 - 18706051 18769965 - 18749475 18813389 - 6480464;6907045 7490079;2263249;19000305;16441242;14702039;12477932;11983687;9857190;9272866;1714595;20379614;20427654;22649233;20699650;21883219;21044950;15174051;21988832;22885232;22555153 84867 A8MXF1;B7ZAF5;E9PLZ4;P54829;Q86TL3 ABBA01061044;ABBA01061045;ABBA01061046;ABBA01061047;AC103974;AK027333;AK055450;AK090923;AK127312;AK294374;AK294673;AK295604;AK316270;AL832541;AMYH01003430;BC039897;BC046435;BC064807;CH471064;NM_001039970;NM_006906;NM_032781;U27831 AAA87555;AAH39897;AAH46435;AAH64807;BAC03548;BAG54479;BAH11749;BAH11844;BAH12122;BAH14641;CAD38632;EAW68363;EAW68364;EAW68365;EAW68366;EAW68367;EAW68368;NP_001035059;NP_008837;NP_116170;P54829 Hs.79092 1655723;1731237;2134259;2138482;2175689 A004A23;D11S1205;D11S455;RH11974;SHGC-32421 FLJ14427;PTPSTEP;STEP OTTHUMP00000165937;OTTHUMP00000165938;OTTHUMP00000165960;OTTHUMP00000231888;neural-specific protein-tyrosine phosphatase;protein tyrosine phosphatase, non-receptor type 5;protein-tyrosine phosphatase striatum-enriched;striatum-enriched protein-tyrosine phosphatase;tyrosine-protein phosphatase non-receptor type 5 protein-coding ENSG00000110786 9657 01472 176879 VALIDATED 1316480 PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008] 2 2 2 q14.2 113842942 114061903 + 120233677 120451507 + 120517207 120742475 + 1580863;6480464 1648233;16169070;15489334;12477932;11054567;10940933;10748123;8917530;8910369;16226712;17474147;18614237;21900206 5775 F5H020;F5H1A0;J3KQD3;J3KQP5;J3QT41;J3QT59;J3QT89;P29074 ABBA01045918;ABBA01045919;ABBA01045920;ABBA01045921;ABBA01045922;ABBA01045923;AC016691;AC069154;AC092455;AC104061;AC104668;AC116632;AK025546;AK301218;AK314836;AMYH01010988;AMYH01010989;AMYH01010990;BC010674;BC037838;BX648614;CH471103;M68941;NM_002830 AAA36530;AAH10674;AAX82012;AAX88858;AAY14805;AAY24016;ADZ15528;BAG37355;BAH13435;EAW95231;EAW95232;NP_002821;P29074 Hs.469809 1677334;1684166;1715523;2144358;2153728;2177643;2217872 PTPN4_3121;RH120908;RH65502;RH68765;RH91837;SHGC-33019;SHGC-35144 MEG;PTPMEG;PTPMEG1 MEG;OTTHUMP00000162133;PTPase-MEG1;megakaryocyte phosphatase;megakaryocyte protein-tyrosine phosphatase;protein tyrosine phosphatase MEG1;protein-tyrosine phosphatase MEG1;tyrosine-protein phosphatase non-receptor type 4 APPROVED protein-coding ENSG00000088179 9656 01471 176878 REVIEWED 1348801 PTPN23 protein tyrosine phosphatase, non-receptor type 23 3 3 p21.3 47397495 47429935 + 47422491 47454931 + 1580863;6480464 19340315;18835089;17959146;16720300;16408268;16344560;15489334;14702039;12477932;12168954;11095967;10819331;22510412;19403673;20936779;16169070;18762272;22863883;23383273;21179510;21724833;22939629;21139048;21890473;21906983;17174262;21963094;22623428;22825871;23000965;19001729;22053931;22505724 25930 B4DST5;C9JD91;Q9H3S7;R4GMM7 AB025194;AB040904;ABBA01024694;ABBA01024695;AC099778;AF169350;AF290614;AK055157;AK289502;AK295877;AK295888;AK299906;AL110210;AMYH01013141;AMYH01013142;BC004881;BC020380;BC027711;BC089042;BT009758;CH471055;DA093189;NM_015466 AAD50276;AAH04881;AAH27711;AAH89042;AAK28025;AAP88760;BAA95995;BAB19280;BAF82191;BAG58674;BAG58683;BAG61747;CAB53676;EAW64822;EAW64823;EAW64824;NP_056281;Q9H3S7 Hs.25524 1664405;1684066;1796592;1853236;2153571 G16531;PTPN23_1258;RH47493;RH91891;SHGC-76917 DKFZp564F0923;HD-PTP;HDPTP;KIAA1471;PTP-TD14 His-domain protein tyrosine phosphatase;OTTHUMP00000164799;OTTHUMP00000210335;his domain-containing protein tyrosine phosphatase;protein tyrosine phosphatase TD14;tyrosine-protein phosphatase non-receptor type 23 protein-coding ENSG00000076201 14406 05959 606584 VALIDATED 1605720 PTPN7 protein tyrosine phosphatase, non-receptor type 7 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010] 1 1 q32.1 200382766 200396374 - 202116141 202130716 - 6480464;6907045 19167335;1530918;7545170;19053285;16441242;16226275;15489334;12592337;12477932;12161469;12058348;12056917;11704759;10940933;10702794;10559944;10415025;10206983;9624114;8309248;8125298;1510684;1370651;20668459;21832049;22505724;14613483 5778 B4DDG6;B4DX06;B4DZD9;C9IYI6;C9JAW7;C9JBA9;E7EUM0;E9PE54;F8WEY3;F8WF08;F8WF66;H7C4T8;H7C5I3;J3KR55;P35236 ABBA01027509;AF394064;AK127214;AK225920;AK293186;AK301051;AK301757;AK301980;AK302869;AK311661;AL592300;AMYH01001644;BC001746;BG340453;BT009848;CH471067;D11327;DC399028;M64322;NM_001199797;NM_002832;NM_080588;NR_037663;NR_037664;S78090 AAA59531;AAH01746;AAM69538;AAP88850;BAA01946;BAG54453;BAG56727;BAG62662;BAG63218;BAG63388;BAG64051;EAW91400;EAW91401;EAW91402;EAW91403;EAW91404;EAW91405;NP_001186726;NP_002823;NP_542155;P35236 Hs.402773 1681026;1764105;1773395;1781742;2183008;5014063;5015861;5037552;7185938 D10S16;D15S1390;D1S3298;D8S2279;RH68192;RH93215;SHGC-147757;SHGC-155354 BPTP-4;FLJ18703;HEPTP;LC-PTP;LPTP;PTPNI OTTHUMP00000034113;OTTHUMP00000034115;OTTHUMP00000216732;OTTHUMP00000216736;dual specificity phosphatase 1;hematopoietic protein-tyrosine phosphatase;protein-tyrosine phosphatase LC-PTP;protein-tyrosine phosphatase, nonreceptor-type, stress induced;tyrosine-protein phosphatase non-receptor type 7 APPROVED protein-coding ENSG00000143851 9659 01480 176889 REVIEWED 1353327 PTPN9 protein tyrosine phosphatase, non-receptor type 9 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008] 15 15 q24.2 73546515 73658680 - 75759462 75871625 - 1580863;6480464 1557404;12907755;19167335;17387180;16679294;16189514;15489334;15322554;14662869;12920026;12477932;12112018;11711529;10940933;20189936;20335174;23383273;22990118;22623531;21890473;22394684;22763125 5780 H3BQT6;P43378 ABBA01060525;ABBA01060526;ABBA01060527;ABBA01060528;ABBA01060529;ABBA01060530;AC105036;AC105137;AMYH01006814;AMYH01006815;AMYH01006816;AMYH01006817;AMYH01006818;BC010863;BC071574;BT007405;CH471136;M83738;NM_002833 AAA60226;AAH10863;AAH71574;AAP36073;ABM81912;EAW99247;EAW99248;NP_002824;P43378 Hs.445775 1650538;1655869;1773554;1796594;2115057;2173422;5093894 A009Y26;G10644;G17833;G32986;PTPN9_399;RH77799;WI-7786 MEG2;PTPMEG2 OTTHUMP00000183522;PTPase MEG2;PTPase-MEG2;protein-tyrosine phosphatase MEG2;tyrosine-protein phosphatase non-receptor type 9 APPROVED protein-coding ENSG00000169410 9661 02864 600768 REVIEWED 734188 PTPN6 protein tyrosine phosphatase, non-receptor type 6 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 12 12 p13 6926001 6940740 + 7055740 7070479 + 1580863;2290530;6480464;6484113;6907045 16426581 19096001;18948549;12438221;9244303;12882840;10660620;1732748;7781604;10506221;9774457;19543515;19398961;19234487;19204726;19166311;19147543;18952289;18502033;18441283;18209728;18174230;18086677;17579069;17561098;17404032;17272397;17239936;17227821;17218319;17143285;17142110;17079228;17046078;16501054;16482509;16453023;16344560;16326706;15870198;15831474;15746253;15701718;15588985;15579525;15574429;15557341;15549731;15489334;15456853;15339845;15269224;15197735;15187115;15184070;15070900;14976049;14691303;14672952;14662855;14630083;14551136;14500659;12917349;12832410;12796776;12791978;12774026;12734331;12705885;12646642;12591278;12571228;12482860;12477932;12468645;12468540;12459556;18543080;12393607;12361947;12198247;12176909;12176037;12145687;12145285;12130517;11987243;11986327;11964172;11920268;11907066;11895767;11858824;11826756;11812650;11786908;11723252;11714803;11544253;11511520;11489943;11414741;11356834;11337495;11328818;11294838;11278955;11266449;11178971;11162587;11160222;11042209;11027300;11001933;10940933;10903736;10903717;10835420;10800945;10790433;10764762;10747947;10660565;10640770;10585470;10574931;10521452;10506573;10497187;10488096;10458769;10457220;10229828;10228003;10206955;10082557;10072516;9973385;9890995;9867848;9842885;9813145;9774441;9765283;9740800;9733788;9712903;9632768;9632636;9590210;9531263;9528781;9520455;9507021;9485206;9482905;9405464;9379041;9368621;9305905;9285412;9285411;9261115;9254654;9211920;9162089;9151699;9074930;9064344;9045636;9029147;8943354;8943344;8790380;8780698;8760799;8692915;8647855;8638162;8632004;8574854;8541543;8524272;8246974;8125298;8114715;7889566;7716523;7684496;7665165;7629131;7618087;7539106;7539038;7518460;7512963;1736296;1652101;1639416;10617656;10772872;9788431;11114375;11551923;8627166;12051764;10350061;7673163;19950550;20424160;18377662;12163025;12196526;16169070;18029348;18604210;19104650;19167335;19542910;19551406;19591923;19749791;19789387;19838216;19874234;20068065;20117097;20130595;20351292;7528577;9148918;20687222;20398180;20696858;16341674;20840866;22939629;22960265;21357539;21505184;21505186;21536801;19379557;21406173;19619438;21291405;20196786;21719561;21604205;21821701;21465528;18802077;21799016;21900501;21890473;21906983;21806449;21964525;22043923;21818116;22589543;22180308;22210881;22371396;22458980;22539788;19561639;22458809;23074279;22738830;11171044;22258937;22488585;23391724;18729074;22505724;22730659 5777 F5GXD4;F5GY79;F5GZM7;F5H0N8;F5H1V7;F5H1Z8;F5H4Z1;F5H5H9;P29350;Q53XS4 AB079851;ABBA01017669;ABBA01017670;AF178946;AK223629;AK290421;AK298470;AK300167;AK308230;AK313379;AMYH01004212;BC002523;BC007667;BG754792;BM006699;BM742181;BT007390;CH471116;CR986427;DA431502;DA868001;DC297194;HI573994;HI573996;M74903;M77273;NM_002831;NM_080548;NM_080549;U15528;U15536;U15537;U47924 AAA35963;AAA36610;AAA82879;AAA82880;AAB51322;AAB51323;AAD53317;AAH02523;AAH07667;AAP36054;ABM82872;ABM86059;BAC81774;BAC81775;BAD97349;BAF83110;BAG36177;BAG60682;BAG61949;CBX47486;CBX47487;EAW88700;EAW88701;EAW88702;EAW88703;EAW88704;NP_002822;NP_536858;NP_536859;P29350 Hs.63489 1651369;1676144;2165198;5113557 RH46958;RH79905;RH80060;SHGC-31976 HCP;HCPH;HPTP1C;PTP-1C;SH-PTP1;SHP-1;SHP-1L;SHP1 OTTHUMP00000238910;OTTHUMP00000238912;hematopoietic cell phosphatase;hematopoietic cell protein-tyrosine phosphatase;protein-tyrosine phosphatase 1C;protein-tyrosine phosphatase SHP-1;tyrosine-protein phosphatase non-receptor type 6 APPROVED protein-coding ENSG00000111679 9658 01475 176883 REVIEWED 1314242 PTPRB protein tyrosine phosphatase, receptor type, B The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 12 12 q15-q21 69196897 69317486 - 70910630 71031220 - 1580863;6480464 19167335;2170109;18361428;17081983;16344560;15638728;15144186;14702039;12907755;12700241;12615970;12477932;12234928;12068634;11313993;10769382;10706604;10557082;9584610;9118959;9049255;7628014;7575486;2169617;1645282;1486802;1373652;9263011;16101282;19116766;19136612;19451274;20201926;20301196;20379614;17549794;22275360 5787 B7ZKS8;F5H3G6;F8VSD5;F8VU56;H0YHE8;J3QT52;P23467;Q6ZR19;Q86VA4 ABBA01026521;ABBA01026522;AC025569;AC083809;AK023720;AK096717;AK097371;AK126121;AK128562;AMYH01004576;BC051329;BC101679;BC113463;BC143356;BC143360;BE042873;BX647238;BX648245;BX648771;CH471054;CR749546;DA883934;DN999550;JA738569;JA738571;NG_029940;NM_001109754;NM_001206971;NM_001206972;NM_002837;X54131 AAH51329;AAI01680;AAI13464;AAI43357;AAI43361;BAC86450;BAC87502;CAA38066;CAE46198;CAH10386;CAH18347;CCF76937;CCF76938;EAW97253;EAW97254;NP_001103224;NP_001193900;NP_001193901;NP_002828;P23467 Hs.434375 1339744;1669062;1691128;1716659;1739703;1756961;1759343;2107537;2131181;2144846;2151382;2171585;2175469;5024756 A008P13;D12S1043;D12S1493;D12S1722;G17666;PTPRB_7863;RH121587;RH44716;RH80030;RH92659;SGC33710;SHGC-144132;SHGC-150877;SHGC-31640 DKFZp686E2262;DKFZp686H15164;FLJ44133;HPTP-BETA;HPTPB;MGC142023;MGC59935;PTPB;R-PTP-BETA;VEPTP OTTHUMP00000241328;OTTHUMP00000241329;OTTHUMP00000241330;OTTHUMP00000241331;OTTHUMP00000241332;VE-PTP;protein tyrosine phosphatase, receptor type, beta polypeptide;protein-tyrosine phosphatase beta;receptor-type tyrosine-protein phosphatase beta;vascular endothelial protein tyrosine phosphatase APPROVED protein-coding ENSG00000127329 9665 01474 176882 REVIEWED 1349193 PTPRCAP protein tyrosine phosphatase, receptor type, C-associated protein The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008] 11 11 q13.3 66959557 66961729 - 67202981 67205153 - 1580863;6480464 7961877;11390434;15489334;15372250;12595907;12477932;11250890;10602003;8954783;8537410;16169070;20019842;8980254;22318606;19738201 5790 Q14761 ABBA01024033;ABBA01024034;AK312022;AMYH01003747;AP003419;BC113859;BC114467;CH471076;CR457429;NM_005608;X81422;X97267 AAI13860;AAI14468;BAG34959;CAA57182;CAA65922;CAG33710;EAW74622;NP_005599;Q14761 Hs.155975 1771402;2167621 RH41895;STS-X97267 CD45-AP;LPAP;MGC138602;MGC138603 CD45 associated protein;CD45-associated protein;OTTHUMP00000197050;PTPRC-associated protein;lymphocyte phosphatase-associated phosphoprotein;protein tyrosine phosphatase receptor type C-associated protein;protein tyrosine phosphatase, receptor type, c polypeptide-associated protein APPROVED protein-coding 9667 09032 601577 REVIEWED 736543 PTPRA protein tyrosine phosphatase, receptor type, A The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008] 20 20 p13 2792841 2967315 + 2844841 3019315 + 1580863;6480464;6484113 2169617;18768480;18216165;18211905;18183590;17212655;17081983;16338072;15951569;15588985;15489334;14702039;14592422;14555984;12626515;12592337;12582170;12477932;12468645;12376545;11923305;11796915;11780052;11676480;11498265;11496365;11436129;11357934;11099722;11042685;10893241;10787408;10777529;10748206;10698938;10562275;9878055;9822658;9535845;9357975;9261115;9183007;8980254;8670803;8647855;7691597;15592455;7518772;2175890;2172030;2170109;2166945;1639427;1611910;1383828;9263011;11401727;20472558;20562859;18728972;19497848;20208566;8493579;21094165;21725282;21622556;23029023;21831360;21900206;21139048;21906983;22647903;19380743 5786 B7Z2A4;J3KP22;P18433;Q5JWG0;Q5JWG2;Q5JWG3 AB209702;ABBA01053799;ABBA01053800;ABBA01053801;ABBA01053802;ABBA01053803;ABBA01053804;AI284972;AK090743;AK290233;AK294499;AK294990;AK297293;AK297647;AL121905;AL161656;AMYH01011672;BC027308;BI597187;BQ213974;BX571753;CH471133;M34668;NM_002836;NM_080840;NM_080841;X53364;X54130;X54890 AAA36528;AAH27308;ABM82081;ABM85260;BAD92939;BAF82922;BAH11790;BAH11942;BAH12540;BAH12641;CAA37447;CAA38065;CAA38662;CAE11878;EAX10561;EAX10562;EAX10563;NP_002827;NP_543030;NP_543031;P18433 Hs.269577 1661323;1670423;1673624;1761573;1789078;1794190;1796596;2114024;2132127;2134405;2160063;5021500 AB046072;D20S731;G29236;G65674;PMC310823P9;PTPRA_1754;RH66062;SHGC-145577;SHGC-30809;STS-M34668;WI-16594;WI-9015 HEPTP;HLPR;HPTPA;HPTPalpha;LRP;PTPA;PTPRL2;R-PTP-alpha;RPTPA Leukocyte common antigen-related peptide (protein tyrosine phosphate);OTTHUMP00000030063;OTTHUMP00000030064;OTTHUMP00000030065;PTPLCA-related phosphatase;PTPase-alpha;protein tyrosine phosphatase, receptor type, alpha polypeptide;protein-tyrosine phosphatase alpha;receptor-type tyrosine-protein phosphatase alpha;tyrosine phosphatase alpha APPROVED protein-coding ENSG00000132670 9664 01476 176884 REVIEWED 736371 PTPRC protein tyrosine phosphatase, receptor type, C The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012] 1 1 q31-q32 196874760 196993168 + 198608098 198726605 + 1358566;1580863;1599983;6480464;6907045;7240710 11101853;11145714 1970422;14625311;2845400;10358156;1793833;9197241;15275963;18029348;11827988;19111528;19059880;18840711;18719244;18680516;18669861;18634151;18511809;18312479;18292296;18174230;18157742;17897956;17823079;17803443;17692374;17656643;17635802;17591854;17524482;17378731;17242371;17172930;17122895;16999868;16998493;16955142;16857986;16538473;16524887;16505159;16503409;16393978;16378074;16360841;16344560;16332974;16269626;16247487;16172127;15963758;15960938;15946252;15808544;15687496;15684325;15626731;15603882;15584483;15548260;15333587;15314282;15302935;15240561;15231748;15057492;15018649;15014144;14983037;14979481;14726805;14684825;14641523;14636588;14631169;14565647;14525771;12880639;12864992;12820694;12716971;12633939;12626536;12618866;12595907;12589045;12589038;12574355;12560083;12556471;12519755;12499376;12477932;12430875;12393728;12386161;12376545;12354383;12147336;12100025;12073144;15214936;12028593;2956090;2853967;2824653;2550143;2531281;2524382;2169617;1976695;1834739;1695146;1680916;1655467;1648262;1373652;1355979;11804554;7539755;9573028;10229804;11551930;2971730;12022705;12008046;11994288;11975983;11909961;11877294;11862398;11841494;11778694;11564800;11548742;11528386;11369760;11254687;11201744;10921916;10702677;10700239;10683443;10490978;10473580;10415030;10330160;10228003;10066810;9973453;9624153;9535845;9403695;9368621;9148925;8980254;8955171;8703037;8663450;8576115;8570203;8557683;8537410;8473339;8157290;7961877;7737297;7537381;7526385;7516335;21952740;22606231;22689986;20505149;20932480;20119835;22821963;20139978;15624328;18992193;19167335;19246294;19332764;19454697;19481264;19546439;19585516;19635795;19879912;19898481;20093141;20164196;20231690;20309874;20191119;21067564;15085197;21106704;21054833;21179414;21507955;21278234;21599592;21768350;23206327;17213291;19850743;21818290;21952639;22386990;21890473;22438252;22783574;22171268;22174689;16341674;23065155;22524693;22458809;23394998;23396948;20156100;22505724;22937208 5788 E9PC28;E9PKH0;E9PMF7;E9PMF8;E9PMG0;E9PPL9;M3ZCP1;M9MMK8;M9MMK9;M9MML3;M9MML4;P08575;Q0VAE8 AA403163;AA904360;ABBA01027578;AF492459;AK130573;AK292131;AK299986;AK303539;AK307635;AK308217;AK310898;AL157402;AL355988;AMYH01001627;AY429565;AY429566;AY539659;AY539667;AY539675;AY539683;AY539691;AY539699;AY567999;BC014239;BC017863;BC031525;BC121086;BC121087;BC127656;BC127657;BC148257;BM791051;CH471067;DA670254;DA819314;DA948670;HC921483;HD063885;M23463;M23492;M29253;NG_007730;NM_001267798;NM_002838;NM_080921;NR_052021;X14896;Y00062;Y00638 AAA59497;AAD15273;AAG26082;AAH14239;AAH17863;AAI21087;AAI21088;AAI27657;AAI27658;AAI48258;AAM12758;AAS46922;AAS46930;AAS46938;AAS46946;AAS46954;AAS46962;AAS75254;BAF84820;BAG61807;BAG64565;CAA68269;CAA68669;CBU30438;CBU83087;EAW91300;EAW91301;EAW91302;EAW91303;NP_001254727;NP_002829;NP_563578;P08575 Hs.654514 1298252;1337647;1666419;1681121;1707896;1758867;1775014;1791604;1798050;1847803;1853723;2120345;2139543;7186387 AL010096;D1S1660;D1S413;PMC116441P1;PTPRC_1163;RH45541;RH68702;RH70956;RH98676;SHGC-150577;SHGC-76094;SHGC-82196;STS-T93530 B220;CD45;CD45R;GP180;L-CA;LCA;LY5;T200 CD45 antigen;L-CA;OTTHUMP00000033813;OTTHUMP00000033816;OTTHUMP00000033817;OTTHUMP00000038574;OTTHUMP00000038575;T200 glycoprotein;T200 leukocyte common antigen;glycoprotein;leukocyte common antigen;leukocyte-common antigen;protein tyrosine phosphatase, receptor type, c polypeptide;receptor-type tyrosine-protein phosphatase C APPROVED protein-coding ENSG00000081237 9666 01050 151460;608971;609532 REVIEWED 1348083 PTPRD protein tyrosine phosphatase, receptor type, D The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] 9 9 p23-p24.3 8304246 10602509 - 8314246 10612723 - 1580863;6480464 7896816;19240061;18951430;18660810;18519826;18414509;18050303;17420988;16114034;14759258;12570871;12477932;12376545;10777529;9624153;9566880;8524829;8355697;7665159;2170109;19913121;20628086;20816195;20526338;20522523;19478061;19500277;19525478;19921088;20073072;20139422;20174558;20200953;20201926;20379614;8889548;20808825;23069849;21213369;21647700;21264940;21493956;22305495;22052591;22832960;22571343;22837378;21926414;21779176;21767287;21963094;23049088;23251661;23362303 5789 C9J6E4;C9J8S8;F5GWR7;F5GWT7;F5GWY7;G3XAD5;G3XAE2;P23468;Q2HXI4;Q3KPI9;Q59H90 AB208869;AB211400;ABBA01065347;ABBA01065348;ABBA01065349;ABBA01065350;ABBA01065351;ABBA01065352;ABBA01065353;ABBA01065354;ABBA01065355;ABBA01065356;ABBA01065357;ABBA01065358;ABBA01065359;ABBA01065360;ABBA01065361;ABBA01065362;ABBA01065363;ABBA01065364;AK296392;AL133479;AL135790;AL137069;AL137125;AL137851;AL157826;AL353638;AL353733;AL354722;AL356054;AL356584;AL390723;AL391864;AL441884;AL445926;AL451130;AL513422;AL583805;AL590307;AL590397;AL591133;AL591622;AL596451;AL669908;AMYH01019219;AMYH01019220;AMYH01019221;AMYH01019222;AMYH01019223;AMYH01019224;AMYH01019225;AMYH01019226;AMYH01019227;BC028038;BC037801;BC045786;BC106713;BC106714;BC106715;BC106716;BM680342;CH471071;DR001889;L38929;NM_001040712;NM_001171025;NM_002839;NM_130391;NM_130392;NM_130393;X54133 AAC41749;AAI06714;AAI06715;AAI06716;AAI06717;BAD92106;BAE79816;BAG59060;CAA38068;EAW58718;EAW58719;EAW58720;EAW58721;EAW58722;EAW58723;EAW58724;NP_001035802;NP_001164496;NP_002830;NP_569075;NP_569076;NP_569077;P23468 Hs.446083 1339170;1339223;1339322;1340080;1341896;1646641;1646680;1650558;1652660;1653466;1657632;1668705;1672377;1675283;1679219;1682103;1688540;1695244;1696060;1701648;1703418;1704338;1704384;1704626;1706026;1707408;1708468;1713151;1714381;1717863;1718857;1719579;1720129;1721675;1722177;1723831;1725311;1730357;1735902;1739373;1748817;1752917;1752933;1754019;1754987;1758387;1765821;1766501;1768977;1769623;1770707;1774838;1778961;1787082;1847067;2114050;2114512;2120297;2143672;2153164;2172984;2177734;2185374;5016021;5017837;5021285;5093122;5094314;5095350;5117590;5117592;5117594;7185090 A003M12;A004N43;A009G40;AB063044;AFM275yb9;CHLC.GATA84D07;D16S2634;D9S1044E;D9S1132;D9S144;D9S1658E;D9S1676;D9S168;D9S193E;D9S2000;D9S775;D9S912;D9S921;FCA1266;G17324;G31002;G32533;G54705;G59849;G60140;GATA187D09;GDB:582179;GDB:582183;GDB:582186;L18408;LEX063;PTPRD;RH104468;RH118651;RH118973;RH120181;RH120363;RH122763;RH123132;RH123693;RH123842;RH46233;RH47322;RH80157;RH92488;SGC35386;SHGC-106805;SHGC-106846;SHGC-110451;SHGC-11668;SHGC-132060;SHGC-141931;SHGC-148223;SHGC-149248;SHGC-149821;SHGC-154932;SHGC-57512;SHGC-62953;SHGC-68795;SHGC-77892;SHGC-78136;SHGC-78649;SHGC-79710;SHGC-83223;SHGC-84491;SHGC-85022;WI-10695;WI-13888;WI-14734;WI-15507;WI-22174;WIAF-1582 HPTP;HPTP-DELTA;HPTPD;HPTPDELTA;MGC119750;MGC119751;MGC119752;MGC119753;PTPD;R-PTP-DELTA;RPTPDELTA OTTHUMP00000022727;OTTHUMP00000215416;OTTHUMP00000215419;R-PTP-delta;protein tyrosine phosphatase, receptor type, delta polypeptide;protein-tyrosine phosphatase delta;receptor-type tyrosine-protein phosphatase delta APPROVED protein-coding ENSG00000153707 9668 03358 601598 REVIEWED 735532 PTPRG protein tyrosine phosphatase, receptor type, G The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008] 3 3 p21-p14 61522285 62254738 + 61547243 62280573 + 1580863;6480464 19167335;8382771;18829573;17963294;16335952;15897551;14676845;12553013;12477932;11859871;10521598;10376795;8833149;7683956;2170109;2169617;1711217;9624153;20959494;20825314;20651337;18646686;19567891;20031603;20125088;20133774;20201926;20379614;21150880;22747683;21795790;21906983;21926974;23000965;23319000 5793 P23470;Q49A02 AB209871;ABBA01024329;ABBA01024330;ABBA01024331;ABBA01024332;ABBA01024333;ABBA01024334;ABBA01024335;ABBA01024336;ABBA01024337;ABBA01024338;ABBA01024339;ABBA01024340;ABBA01024341;AC004695;AC092502;AC096919;AC098482;AC103587;AC103921;AC104849;AC105939;AI872451;AK296327;AMYH01013239;AMYH01013240;AMYH01013241;BC036018;BC047734;BC048961;BC140904;BC144110;CH471055;CR749269;EU273472;L09247;NM_002841;U46089;U46116;X54132 AAA60224;AAC16478;AAC50439;AAH36018;AAH47734;AAH48961;AAI40905;AAI44111;ABX60133;BAD93108;BAH12317;CAA38067;CAH18125;EAW65397;NP_002832;P23470 Hs.595541 1339073;1648182;1651648;1665033;1665182;1668073;1670925;1681939;1693516;1701102;1706374;1710468;1718711;1727553;1730765;1784860;1784896;2111866;2111922;2111924;2111926;2112550;2115731;2115733;2117158;2132730;2139292;2143825;2158541;2161473;2164714;2164803;2176804;2178739;2181391;2183449;2185299;2185331 D2S208E;D3S1239;D3S3448;D3S3934;D3S4003;D3S4021;D3S4045;D3S4048;D3S4059;D3S4073;D3S4099;D3S4100;D3S4101;D3S4211;D3S4334;G29177;G31070;G63034;RH104179;RH11441;RH12127;RH123043;RH67912;RH70195;SGC34642;SHGC-156251;SHGC-32613;SHGC-56789;SHGC-58561;SHGC-77036;SHGC-77046;SHGC-77060;SHGC-77063;SHGC-79619;SHGC-80756;SHGC-86248;STS-T47142;STS-T78588 HPTPG;PTPG;R-PTP-GAMMA;RPTPG H_RG317H01.1;OTTHUMP00000213232;OTTHUMP00000213233;protein tyrosine phosphatase gamma;protein tyrosine phosphatase, receptor type, gamma polypeptide;protein-tyrosine phosphatase gamma;receptor type protein tyrosine phosphatase gamma;receptor tyrosine phosphatase gamma;receptor-type protein phosphatase gamma;receptor-type tyrosine-protein phosphatase gamma APPROVED protein-coding 9671 01478 176886 REVIEWED 734202 PTPRF protein tyrosine phosphatase, receptor type, F The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 1 1 p34 43769134 43861930 + 43996547 44089343 + 1625124;1580863;1642727;1642732;1642735;1642723;1642733;2293185;6480464;6907045 17347799;7769120;7666792;11309481;15150650;9218523;7711057 8995282;7665159;2972792;18925540;17803936;17419996;17259169;16478662;16335952;15896785;15588985;15491607;15231748;14702039;12496362;12477932;12376545;12176037;12095414;11931740;11158333;11121408;10822386;10777529;10660596;10395287;10365916;10320483;10187801;10079136;9647658;9624153;9245795;8917069;8732688;8643598;8621380;8524829;7929208;7796809;7558042;2554325;1695146;1486801;1321126;11245482;12629171;19910497;10338209;20139422;9295285;21875946;21697133;21139048;21890473;21906983;21963094;22959728;23000965 5792 A2A437;F2Z3B8;H0Y380;H0Y4H1;H0Y6Z7;H0Y7Z9;P10586 AB177856;AB177857;AB209478;AB621807;ABBA01050949;ABBA01050950;ABBA01050951;ABBA01050952;AC092815;AK023775;AK125325;AK127007;AK127475;AK301551;AL583862;AMYH01000559;AMYH01000560;AMYH01000561;AMYH01000562;BC012102;BC029466;BC048416;BC048768;BI711143;BX537361;CH471059;DQ234351;NM_002840;NM_130440;Y00815 AAH48768;ABB29980;BAD66834;BAD66835;BAD92715;BAG54183;BAG54420;BAG54509;BAG63047;BAK64143;CAA68754;CAD97607;EAX07086;EAX07087;EAX07088;EAX07089;NP_002831;NP_569707;P10586 Hs.272062 1729466;1778670;1788450;1798052;2117629;2162627;5022576;5037552;5118444 D11S3316;D1S1361;D1S154;D8S2279;PTPRF_1899;RH70959;SHGC-12681;SHGC-74668;fj50d02.y1 FLJ43335;FLJ45062;FLJ45567;LAR LCA-homolog;OTTHUMP00000008683;OTTHUMP00000008684;OTTHUMP00000008687;OTTHUMP00000008688;OTTHUMP00000192913;OTTHUMP00000192914;leukocyte antigen-related (LAR) PTP receptor;leukocyte antigen-related tyrosine phosphatase;leukocyte common antigen related;protein tyrosine phosphatase, receptor type, F polypeptide;receptor-linked protein-tyrosine phosphatase LAR;receptor-type tyrosine-protein phosphatase F APPROVED protein-coding ENSG00000142949 9670 01552 179590 REVIEWED 7177416 PTPRG-AS1 PTPRG antisense RNA 1 3 62247494 62304622 - 12477932;14702039 100506994 ABBA01024329;AC092502;AK022901;AK094634;AK307209;AK308660;AMYH01013241;BC041886;NR_038281;NR_038282;NR_038283;R37661 Hs.656620;Hs.741349 2132730;2158541;2164803;5022200;5037552 D3S3934;D8S2279;L18426;RH12127;SHGC-77046 miscrna ENSG00000241472 44638 VALIDATED 1345629 PTPRH protein tyrosine phosphatase, receptor type, H The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 19 19 19 q13.4 52733808 52762437 - 60384428 60412654 - 55692615 55720874 - 1580863;6480464 12907755;14702039;12879010;12477932;12101188;11435690;11278335;8294459;12837766;18029348;20706999 5794 C9JCH2;Q9HD43 AA573849;ABBA01068115;ABBA01068116;ABBA01068117;ABBA01068118;ABBA01068119;AC010327;AF275131;AK097257;AMYH01009985;AMYH01009986;BC034929;BC111715;BC111716;CH471135;D15049;NM_001161440;NM_002842 AAF91411;AAI11716;AAI11717;BAA03645;EAW72348;NP_001154912;NP_002833;Q9HD43 Hs.179770;Hs.657630 1774567;2154822 D19S1081;STS-D15049 FLJ39938;MGC133058;MGC133059;SAP1 R-PTP-H;receptor-type tyrosine-protein phosphatase H;stomach cancer-associated protein tyrosine phosphatase 1;transmembrane-type protein-tyrosine phosphatase type H APPROVED protein-coding ENSG00000080031 9672 03942 602510 VALIDATED 1346203 PTPRE protein tyrosine phosphatase, receptor type, E The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Two alternatively spliced transcript variants of this gene have been reported, one of which encodes a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; Another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokines induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Jul 2008] 10 10 q26 129595315 129774155 + 129705325 129884180 + 1580863;6480464 19167335;2170109;18682798;18093973;17903293;16344560;15845350;15738637;15588985;15522235;15489334;15390114;14980517;14702039;12861030;12754301;12615930;12477932;12376545;12193229;12121439;10980613;10921884;10859312;10490839;8889548;8838320;8786123;8618876;8595895;8586417;7835887;7566098;16385451;20201926;20379614;18029348;21734400;21906983;22117074;22952603 5791 B4DRZ3;P23469;Q5VWH5;Q5VWH6;Q96P81 AA362195;ABBA01009091;ABBA01009092;AF406557;AJ315969;AJ430580;AK001335;AK026334;AK056111;AK290414;AK291828;AK299498;AK300613;AL158166;AL390236;AL832042;AMYH01003173;BC031078;BC050062;BC071573;BE246451;BI559814;BI910569;BM970048;BQ006544;BU159075;BU742614;BX648180;CH471066;D20432;DA470230;DA949010;H17674;NG_029511;NM_006504;NM_130435;U36623;X54134 AAC50324;AAH50062;AAL01375;ADZ16048;BAF83103;BAF84517;BAG61455;BAG62307;CAA38069;CAC86583;CAD23182;CAH10411;EAW49180;EAW49181;EAW49182;EAW49183;EAW49184;EAW49185;EAW49186;NP_006495;NP_569119;P23469 Hs.127022 1661191;1703290;1706946;1736154;1739961;1771266;1846688;1851969;1854853;1854855;2125256;2172349;2219576;5037552 A001W02;A008Y06;D10S1404E;D10S1554;D10S1623;D10S2229;D20S433;D8S2279;G19703;PTPRE_4144;RH44546;SHGC-68389;SHGC-80969;T15921 DKFZp313F1310;FLJ57799;FLJ58245;HPTPE;PTPE;R-PTP-EPSILON OTTHUMP00000020735;OTTHUMP00000020736;protein tyrosine phosphatase epsilon;protein tyrosine phosphatase, receptor type, epsilon polypeptide;protein-tyrosine phosphatase epsilon;receptor-type tyrosine-protein phosphatase epsilon APPROVED protein-coding ENSG00000132334 9669 02956 600926 REVIEWED 736433 PTPRJ protein tyrosine phosphatase, receptor type, J The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p11.2 47958686 48148970 + 48002110 48192394 + 1357414;1580863;1641809;2317988;6480464;6484113;7240710 15710778;17021051;16829981 19167335;10821867;7937872;18029348;19332538;19124506;19122201;18936167;18843023;18603590;18348712;16778204;16682945;16582570;16335952;16000320;15384144;15378013;15231692;15123617;14709717;12685844;12477932;12403354;12370829;12089527;12062403;11259588;10914487;10648410;10599888;10473595;9759839;9531590;9115287;7994032;21502573;20823296;19413345;19494114;19672627;19836242;19922411;20379614;21036128;12475979;12913111;21262971;21304107;21543337;9780142;21091576;21987572;21813734;22438257;22308318;22076464;20881960;22677127;21706016;22564856;23000965;22815804 5795 E9PJ83;E9PPH3;Q12913;Q9NPR5 ABBA01060680;ABBA01060681;ABBA01060682;ABBA01060683;ABBA01060684;ABBA01060685;ABBA01060686;AC026975;AC103828;AI218139;AL359057;AMYH01003555;AMYH01003556;BC019824;BC063417;BC098447;CH471064;D37781;DR007037;NG_012209;NM_001098503;NM_002843;U10886 AAB36687;AAH63417;AAI60125;BAA07035;CAB94390;EAW67873;EAW67874;EAW67875;EAW67876;NP_001091973;NP_002834;Q12913 Hs.318547 1341775;1342159;1645133;1659559;1682089;1684676;1689538;1792466;1798054;2118691;2121634;2132660;2135761;5116950 D11S1225;D11S1350;D11S1784;D11S4544;D11S4682;PMC151692P1;PTPRJ_2541;RH17993;RH45248;RH79671;SHGC-17236;SHGC-34210;WI-18182;ha1563 CD148;DEP1;HPTPeta;R-PTP-ETA;SCC1 CD148 antigen;DEP-1;HPTP eta;OTTHUMP00000233525;OTTHUMP00000233526;R-PTP-J;density-enhanced phosphatase 1;human density enhanced phosphatase-1;protein tyrosine phosphatase, receptor type, J polypeptide;protein-tyrosine phosphatase eta;protein-tyrosine phosphatase receptor type J;receptor-type tyrosine-protein phosphatase eta;susceptibility to colon cancer 1, mouse, homolog of APPROVED protein-coding ENSG00000149177 9673 02955 114500;600925 REVIEWED 1345897 PTPRQ protein tyrosine phosphatase, receptor type, Q This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus are associated with hearing loss. [provided by RefSeq, Jan 2012] 12 12 12 q21.2 80503778 80740182 + 79363383 79531770 + 80838126 81073968 + 1580863;6480464;7240710 19351528;16344560;16341674;12837292;12802008;9727007;20346435;20379614;20472657;19888295 374462 F8VW52;F8VXI2;F8W122;H0YD15;H0YIJ5;Q9UMZ3 ABBA01053491;ABBA01053492;ABBA01053493;ABBA01053494;ABBA01053495;ABBA01053496;AC074031;AC083812;AF169351;AMYH01004612;BM750287;DA545412;DB305536;DB318211;DB341961;DN831929;DV080144;DV080238;DV080465;DV080607;DV080649;DV080650;DV080661;DW009832;DW009898;DW009906;DY655367;EG327664;NM_001145026 AAD50277;NP_001138498;Q9UMZ3 Hs.539284 1686642;1708544;1733668;2134620 D12S1813;D15S639E;RH91909;SHGC-85051 DFNB84;DFNB84A;PTPGMC1;R-PTP-Q OTTHUMP00000229692;PTP-RQ;R-PTP-Q;phosphatidylinositol phosphatase PTPRQ;phosphotidylinositol phosphatase PTPRQ;protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells;receptor-type tyrosine-protein phosphatase Q APPROVED protein-coding ENSG00000139304 9679 603317;613391 VALIDATED 1354114 PTPRK protein tyrosine phosphatase, receptor type, K The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008] 6 6 q22.2-q22.3 128331625 128883416 - 128289924 128841870 - 1580863;6480464 9047348;18276111;17720884;16849327;16672235;16344560;16263724;15383276;14718574;12794170;12477932;11710941;9722959;8941358;8663237;8264577;7782276;16169070;15899872;19167335;19236842;19800317;19864455;19911372;20068591;20190752;20379614;21094132;21988832;23552869;17573772;21139048;21900206;21833088 5796 B4DHC3;B7ZMG0;E9PGC5;E9PMV4;E9PRW2;F5GXI4;H0Y6P5;H0Y6V4;H0YD44;H0YDP9;Q15262;Q59EZ1;Q5TG12;Q6P493;Q86WJ2 AB209670;ABBA01025921;ABBA01025922;ABBA01025923;ABBA01025924;ABBA01025925;AF533875;AK295028;AL034349;AL035465;AL035470;AL035594;AL357621;AL451073;AL590006;AMYH01016659;AMYH01016660;BC063596;BC140775;BC144512;BC144513;BI755683;BQ018138;BX647498;CH471051;CR749277;DA790525;JA738769;JA738771;L77886;NM_001135648;NM_002844;Z70660 AAC37599;AAH63596;AAI40776;AAI44513;AAI44514;AAO49502;BAD92907;BAG58084;CAA94519;CAH18132;CCF77037;CCF77038;EAW48084;EAW48085;EAW48086;EAW48087;EAW48088;EAW48089;NP_001129120;NP_002835;Q15262 Hs.155919 1336293;1336943;1340127;1666296;1666883;1675070;1682946;1690017;1693328;1693330;1697422;1698150;1699400;1751667;1758895;1787550;1849061;2135876;2140657;2140659;2149856;2166928;2171205;2182059;5092976;7183182;7186159 A009D21;AL034437;AL034438;D6S1030;D6S1033;D6S1436;D6S1690;D6S407;G32446;RH102211;RH102608;RH103291;RH15838;RH36399;RH46580;RH48378;RH65472;RH79697;SHGC-105646;SHGC-155674;SHGC-1830;SHGC-24342;STS-T79596;WI-18631;WI-21653 DKFZp686C2268;DKFZp779N1045;R-PTP-kappa OTTHUMP00000017180;OTTHUMP00000017181;OTTHUMP00000017182;OTTHUMP00000233054;OTTHUMP00000233055;OTTHUMP00000233080;dJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappa;protein-tyrosine phosphatase kappa;protein-tyrosine phosphatase, receptor type, kappa;receptor-type tyrosine-protein phosphatase kappa APPROVED protein-coding ENSG00000152894 9674 03968 602545 VALIDATED 1347501 PTPRM protein tyrosine phosphatase, receptor type, M The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008] 18 18 p11.2 7557314 8396859 + 7567314 8406859 + 1580863;6480464 9531566;11278757;16380380;10809770;8393854;18566238;17276081;14623235;15080886;17965016;1655529;15706045;15491993;18773424;17761881;16335952;15588985;12895029;12477932;12376545;10777529;10753936;10094839;9624153;9346878;8620001;8404049;8394372;7961788;7782276;7642713;11801604;21546767;19913121;20628086;20659327;19167335;19304959;19690139;20201926;20379614;21649524;21743492;22505657 5797 E7EPS8;E7EVX9;F8WA38;J3KRV2;J3KT55;J3QLI4;J3QRB4;P28827 AA281524;ABBA01049918;ABBA01049919;ABBA01049920;ABBA01049921;ABBA01049922;ABBA01049923;ABBA01049924;ABBA01049925;ABBA01049926;ABBA01049927;ABBA01049928;ABBA01049929;ABBA01049930;ABBA01049931;ABBA01049932;ABBA01049933;AC006566;AK294492;AK303652;AMYH01008794;AMYH01008795;AMYH01008796;AMYH01008797;AMYH01008798;AP000897;AP001091;AP001094;AP005118;AP005227;AP005900;BC040543;BC051651;BC151842;BF725297;BQ926672;CH471113;DC381904;NM_001105244;NM_002845;X58288 AAH40543;AAH51651;AAI51843;BAG57714;BAG64655;CAA41226;EAX01620;EAX01621;EAX01622;EAX01623;EAX01624;NP_001098714;NP_002836;P28827 Hs.49774 1655375;1656807;1676766;1690089;1696108;1698032;1698564;1701520;1715361;1717059;1718973;1720895;1734570;1752555;1752781;2115531;2115766;2121061;2123776;2131472;2135890;2141893;2168001;2170316;2182490;2183682;5095352;5126326 A008J20;D18S1252;D18S1317;D18S906E;D18S933E;D18S952;G10607;G59276;PTPRM;RH102547;RH102834;RH104393;RH120512;RH121446;RH123195;RH46332;RH46357;SHGC-106472;SHGC-106625;SHGC-52460;SHGC-56629;SHGC-58168;SHGC-78938;STS-AA002088;STS-H94257;STS-T89170;WI-16948;WI-9017 MGC166994;PTPRL1;R-PTP-MU;RPTPM;RPTPU;hR-PTPu OTTHUMP00000162329;protein tyrosine phosphatase mu;protein tyrosine phosphatase, receptor type, mu polypeptide;protein-tyrosine phosphatase mu;receptor-type tyrosine-protein phosphatase mu APPROVED protein-coding ENSG00000173482 9675 01479 176888 REVIEWED 731757 PTPRO protein tyrosine phosphatase, receptor type, O This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011] 12 12 p13.3-p13.2 15366754 15641602 + 15475191 15751265 + 1580863;6480464 19167335;7665166;7753550;19095770;18997174;17593862;18644370;17545520;16888096;15356345;12477932;11368509;10498613;10397721;9263011;19913121;20628086;22001392;16169070;19573017;19834535;19855081;20379614;16344560;11238916;12949066;15803146;18342392;20564182;20633639;21722858;21832049;19233845;21900206;22099875;22126837;22851698 5800 H0YH11;H0YH60;Q16827;Q8IYG3 AB209729;ABBA01067890;ABBA01067891;ABBA01067892;AC007542;AC022334;AC092183;AF152378;AF187042;AF187043;AF187044;AK289784;AK290982;AK299529;AMYH01004304;BC035960;BC126201;BC126203;CH471094;DA165109;DC358516;DR000351;NG_031857;NM_002848;NM_030667;NM_030668;NM_030669;NM_030670;NM_030671;U20489;Z48541 AAA82892;AAD55680;AAF04085;AAF04086;AAF04087;AAH35960;AAI26202;AAI26204;BAD92966;BAF82473;BAF83671;BAG61478;CAA88425;EAW96348;EAW96349;EAW96350;EAW96351;EAW96352;EAW96353;NP_002839;NP_109592;NP_109593;NP_109594;NP_109595;NP_109596;Q16827 Hs.160871 1335795;1725949;1725959;1725965;1740049;1750789;1782780;1857061;2155754;2217874;5016518 A007I29;D12S1303;D12S1571;G62268;G62271;G62341;GDB:591927;PTPRO_1364;SHGC-103008;SHGC-31637;SHGC-68526 GLEPP1;NPHS6;PTP-U2;PTP-oc;PTPROT;PTPU2;R-PTP-O OTTHUMP00000239456;OTTHUMP00000239458;OTTHUMP00000239459;OTTHUMP00000239460;OTTHUMP00000239461;OTTHUMP00000239462;PTP phi;PTPROt;PTPase U2;R-PTP-O;glomerular epithelial protein 1;glomerular epithelial protein-1;osteoclastic transmembrane protein-tyrosine phosphatase;phosphotyrosine phosphatase U2;protein tyrosine phosphatase PTP-U2;protein tyrosine phosphatase U2;receptor-type protein tyrosine phosphatase O;receptor-type tyrosine-protein phosphatase O APPROVED protein-coding ENSG00000151490 9678 02784 600579;614196 REVIEWED 1602650 PTPRVP protein tyrosine phosphatase, receptor type, V, pseudogene 1 1 1 q32.1 175261036 175282499 + 200403802 200425104 + 202137179 202158577 + 6480464 17693256;17360168;15358244;20210993 148713 ABBA01027508;ABBA01027509;AJ629456;AL356953;AL592300;AMYH01001644;AY819761;AY819762;AY819763;NR_002930 Hs.523870 1724141;1762821 RH121205;SHGC-146598 ESP;OST-PTP;PTPRV APPROVED pseudo ENSG00000243323 13421 VALIDATED 734153 PTPRN protein tyrosine phosphatase, receptor type, N The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] 2 2 q35-q36.1 219862589 219882387 - 220154345 220174295 - 1580863;2313289;2313594;6480464;6907045 19741189;19513530 11043403;16273344;8024693;18535195;18504544;18373080;16713569;15939893;15620435;15596545;14702039;14624760;12477932;12021127;12021115;11908951;11483505;11334676;11289059;11086001;11079748;9828138;8798755;8646884;8641276;8144912;21073664;18048354;19447008;20035758;20083660;20193755;23110943;21270193;21744463;23142642;21577013;21792090;23396399;21442164;21935384;22966073 5798 C9J392;C9JCQ0;C9JJL7;C9JR27;F8WCK8;H7C0U9;Q16849;Q96IA0 AB209368;ABBA01023842;ABBA01023843;AC114803;AF042285;AK054765;AK122679;AK291469;AK294490;AK296335;AK314574;AMYH01011507;BC007713;BC070053;BT006975;CH471063;DC344431;DC352946;L18983;NG_029546;NM_001199763;NM_001199764;NM_002846;X62899 AAA90974;AAH07713;AAH70053;AAP35621;AAY24038;BAD92605;BAF84158;BAG53662;BAG57712;BAG59024;CAA44688;EAW70724;EAW70725;EAW70726;NP_001186692;NP_001186693;NP_002837;Q16849 Hs.89655 1650893;1676298;1680493;1684439;1744399;1746065;1796600;2117815;2191805 GDB:452693;MARC_8095-8096:996688286:1;PTPRN_1350;RH69021;RH70260;RH80635;RH80862;RH93957;X74438 FLJ16131;IA-2;IA-2/PTP;IA2;ICA512;R-PTP-N ICA 512;OTTHUMP00000164170;OTTHUMP00000205824;PTP IA-2;islet cell antigen 2;islet cell antigen 512;islet cell autoantigen 3;protein tyrosine phosphatase-like N;receptor-type tyrosine-protein phosphatase-like N APPROVED protein-coding ENSG00000054356 9676 03466 601773 REVIEWED 1348911 PTPRZ2 protein tyrosine phosphatase, receptor-type, Z polypeptide 2 1580863 9653645;1323835 5804 O76043 9686 604008 1348456 PTPRR protein tyrosine phosphatase, receptor type, R The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011] 12 12 q15 69318129 69600853 - 71031853 71314584 - 729789;1580863;6480464;6907045 7557444 19167335;7836467;10601328;12493773;16541075;16441242;16148006;14702039;12477932;12042304;11493009;11147789;10705342;10419510;10393441;10066421;9857190;7814416;18029348;20015382;20201926;20379614;22330137;16344560;23422819;22100128;23382691;23396134 5801 F8VU63;F8VVE9;Q15256;Q7Z2V8 ABBA01026518;ABBA01026519;ABBA01026520;ABBA01026521;AC083809;AC084877;AC090676;AC140066;AF263016;AK091647;AK295951;AK304457;AK304672;AK312376;AMYH01004576;AMYH01004577;BC072386;BC092469;BC110900;BC119777;BC122866;BX571751;CA435261;CH471054;CR749836;D64053;DA329806;DC304601;DC421975;NM_001207015;NM_001207016;NM_002849;NM_130846;NR_073474;U42361;U77916;U77917;X82635;Z79693 AAB54006;AAB54007;AAD09447;AAG47642;AAH92469;AAI10901;AAI19778;AAI22867;BAA10930;BAG35294;BAH12227;BAH14192;BAH14234;CAA57957;CAB01957;CAE11876;CAH18692;EAW97255;EAW97256;NP_001193944;NP_001193945;NP_002840;NP_570897;Q15256 Hs.506076 1739709;1746089;1756381;1761253;1763555;2129629;2162004;2171585;2174672;5113488;5122287 D12S1025;D12S1496;D12S2195;G64374;RH26818;RH44886;SHGC-143350;SHGC-145257;SHGC-147260;SHGC-31640;T03332 DKFZp781C1038;EC-PTP;FLJ34328;MGC131968;MGC148170;PCPTP1;PTP-SL;PTPBR7;PTPRQ Ch-1 PTPase;NC-PTPCOM1;OTTHUMP00000241361;OTTHUMP00000241363;OTTHUMP00000241364;OTTHUMP00000241365;R-PTP-R;ch-1PTPase;protein tyrosine phosphatase Cr1PTPase;protein-tyrosine phosphatase NC-PTPCOM1;protein-tyrosine phosphatase PCPTP1;receptor-type tyrosine-protein phosphatase R APPROVED protein-coding ENSG00000153233 9680 04169 602853 REVIEWED 1349626 PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. The catalytic domain of this PTP is most closely related to PTPRN/IA-2beta. This PTP and PTPRN are both found to be major autoantigens associated with insulin-dependent diabetes mellitus. Three alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 7 7 q36 157024516 158073179 - 157331750 158380482 - 1580863;2311682;2311683;2311684;6480464;6907045 18193190;15004204;12419281 17474147;8798755;18029348;19361477;18398821;16713569;15489334;15220191;12477932;12421765;11086001;9858807;9754810;9220540;9205841;8954911;8889548;8878534;8024693;19913121;20628086;21057379;19724895;19851296;20198315;20201926;20379614;22952603;23049088;23251661 5799 E7EM83;Q92932 AACC02000070;AACC02000071;AB002385;ABBA01032320;ABBA01032321;ABBA01032322;ABBA01032323;ABBA01032324;ABBA01032325;ABBA01032326;ABBA01032327;ABBA01032328;ABBA01032329;ABBA01032330;ABBA01032331;ABBA01032332;ABBA01032333;ABBA01032334;ABBA01032335;ABBA01032336;ABBA01032337;ABBA01032338;ABBA01032339;ABBA01032340;ABBA01032341;ABBA01032342;ABBA01032343;ABBA01032344;ABBA01032345;ABBA01032346;ABBA01032347;ABBA01032348;AC005481;AC006003;AC006372;AC011899;AC019043;AC078942;AC093662;AC093856;AC125243;AF007555;AL157451;AMYH01018194;AMYH01018195;AMYH01018196;AMYH01018197;AMYH01018198;AMYH01018199;AMYH01018200;AMYH01018201;AMYH01018202;AMYH01018203;AMYH01018204;AMYH01018205;AMYH01018206;AMYH01018207;BC034040;BC071570;CB850986;CH236954;CH471149;DB498958;NG_029966;NM_002847;NM_130842;NM_130843;U65065;U66702;U81561 AAB63600;AAB68603;AAC50742;AAC51643;AAH34040;AAH71570;ABM83325;ABW03315;BAA20841;CAB75665;EAX04577;EAX04578;NP_002838;NP_570857;NP_570858;Q92932 Hs.490789 1337752;1646933;1652792;1655284;1655286;1687047;1709430;1714089;1757071;1757417;1758119;1760383;1763641;1772663;1778139;1786280;1789500;1796598;1848575;1849055;1850103;1855400;1856726;2122208;2122284;2137217;2139643;2140576;2149402;2151903;2153133;2154885;2167359;2178764;2180446;2186013;2187347;7183803 A001W14;D7S1476;D7S1759;D7S22;D7S2423;D7S3168;D7S467;D7S54;D7S98;G17166;G19707;G20053;GDB:1317804;GDB:1317982;GDB:4584949;GDB:4584967;GDB:4585135;GDB:4585269;GDB:4585294;GDB:4585471;GDB:4585755;PTPRN2_240;RH119650;RH12041;RH47765;RH65458;RH93077;SHGC-142152;SHGC-144451;SHGC-144805;SHGC-147330;SHGC-147446;SHGC-148672;SHGC-53826;SHGC-81751;UniSTS:17906;WI-19502 IA-2beta;IAR;ICAAR;PTPRP;R-PTP-N2 IAR/receptor-like protein-tyrosine phosphatase;OTTHUMP00000202113;OTTHUMP00000202114;OTTHUMP00000214027;OTTHUMP00000214028;R-PTP-N2;islet cell autoantigen-related protein;phogrin;protein tyrosine phosphatase receptor pi;receptor-type tyrosine-protein phosphatase N2;tyrosine phosphatase IA-2 beta APPROVED protein-coding ENSG00000155093 9677 03413 601698 REVIEWED 734357 PTPRS protein tyrosine phosphatase, receptor type, S The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 19 19 p13.3 5156519 5291814 - 5205519 5340814 - 1580863;6480464 16273344;17353931;8524829;19000305;17893260;17614280;16552719;16335952;15146197;15057824;12477932;12376545;10435588;10080192;10080191;9790732;9624153;9566880;9357975;8992885;8954782;1370651;16169070;21139048;21906983;22027896;21454754;10777529;20139422;20179269;21303930;21812780;21875946;22065749 5802 E9PDC5;G8JL96;K7ERX4;K7ESP0;Q13332;Q59FX6;Q8NHS7 AB209333;ABBA01056017;ABBA01056018;ABBA01056019;ABBA01056020;ABBA01056021;ABBA01056022;ABBA01056023;ABBA01056024;AC005335;AC005338;AC005788;AC005790;AC118535;AMYH01009353;AMYH01009354;AMYH01009355;AMYH01009356;AMYH01009357;AMYH01009358;AMYH01009359;BC029496;BC104812;BC143286;BC143287;BC148297;BI461316;CH471139;CN413749;CN413752;NM_002850;NM_130853;NM_130854;NM_130855;S78080;S78086;U35234;U40317;U41725 AAB21146;AAB21147;AAC27825;AAC50299;AAC50567;AAC62832;AAC62834;AAD09360;AAH29496;AAI04813;AAI43288;AAI48298;BAD92570;EAW69170;EAW69171;EAW69172;EAW69173;EAW69174;EAW69175;EAW69176;EAW69177;EAW69178;EAW69179;NP_002841;NP_570923;NP_570924;NP_570925;Q13332 Hs.644384 1668212;1722175;1730201;1760217;1850097;2111406;2128642;2217876;7185056;7187964 D19S1011;D19S233E;D19S612E;G60139;PTPRS_2667;RH66535;SHGC-132497;STS-N38920 PTPSIGMA R-PTP-S;R-PTP-sigma;protein tyrosine phosphatase PTPsigma;protein tyrosine phosphatase, receptor type, d;protein tyrosine phosphatase, receptor type, sigma;receptor-type tyrosine-protein phosphatase S;receptor-type tyrosine-protein phosphatase sigma APPROVED protein-coding ENSG00000105426 9681 03344 601576 REVIEWED 1320107 PTPRT protein tyrosine phosphatase, receptor type, T The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] 20 20 q12-q13 40134806 41251971 - 40701392 41818557 - 1580863;6480464 16973135;17360477;18644975;9602027;19351817;18668548;18519826;17223850;16344560;16273344;15155950;11814386;11780052;11423001;9486824;9179496;8889549;21145461;19816407;20133777;20201926;20379614;22389709;12477932;21517784;23382691 11122 B1AJR6;B1AJR8;B1AJR9;B1AJS0;Q9H0Y8 AB006621;ABBA01052585;ABBA01052586;ABBA01052587;ABBA01052588;ABBA01052589;ABBA01052590;ABBA01052591;ABBA01052592;ABBA01052593;ABBA01052594;ABBA01052595;ABBA01052596;ABBA01052597;AF043644;AL021395;AL022239;AL024473;AL031656;AL031676;AL035459;AL035666;AL049812;AL109826;AL117374;AL121763;AL136461;AL359695;AL707728;AMYH01011918;AMYH01011919;AMYH01011920;AMYH01011921;AMYH01011922;AMYH01011923;BC153300;CH471077;DA791336;NM_007050;NM_133170;R50970;Z93942 AAD09421;AAI53301;AAI66683;BAA22952;EAW75970;EAW75971;EAW75972;NP_008981;NP_573400;O14522 Hs.526879 1335755;1336096;1340410;1342350;1645099;1650640;1653273;1660827;1668927;1694440;1701592;1703412;1712637;1713633;1714775;1716179;1724741;1726431;1726717;1729498;1751639;1758855;1764583;1796602;1856262;2125656;2125858;2129860;2149909;2150949;2154229;2156686;2160309;2161950;2164860;2168688;2171261;2185645;7184612;7184955;7186691 AL022351;AL023697;AL030967;AL031487;AL031489;D20S108;D20S110;D20S46;D20S466;D20S499;D20S591E;D20S598;D20S858;D20S899;G31023;G42933;G62595;G62746;PTPRT_1775;RH104430;RH120053;RH120169;RH120697;RH121112;RH122575;RH66086;SHGC-105606;SHGC-148173;SHGC-150658;SHGC-68781;WI-10350;Z94342;Z94343;Z94358;Z94437;Z94519;Z94543;Z94641 KIAA0283;RPTPrho OTTHUMP00000031657;OTTHUMP00000031658;OTTHUMP00000031659;OTTHUMP00000031660;OTTHUMP00000031661;OTTHUMP00000031662;OTTHUMP00000031663;R-PTP-T;RPTP-rho;receptor protein tyrosine phosphatase;receptor-type tyrosine-protein phosphatase T;receptor-type tyrosine-protein phosphatase rho APPROVED protein-coding ENSG00000196090 9682 06690 608712 REVIEWED 731607 PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 7 7 q31.3 121300395 121489326 + 121513159 121702090 + 1580863;6480464;7240710 19167335;9653645;1323835;8387522;19141530;19058221;18838383;18713734;18186075;18003890;17823238;17727841;17706593;17681947;17579610;17368428;17098867;17030583;16344560;16338072;16335952;15998549;15908427;15833863;15797857;15523497;14555979;12690205;12355066;11520897;11381105;10706604;10521598;10212223;9847074;9441757;7736789;2170109;2169617;9507007;11707406;12700241;21890632;21969550;20738847;20224786;12477932;15925565;16105548;16513268;16814777;19604403;20133774;20201926;23060448;21454675;22682003;22832403;23170925;23226095;23100427 5803 B4DFE7;C9JFM0;P23471 AACC02000001;ABBA01057750;ABBA01057751;ABBA01057752;ABBA01057753;ABBA01057754;AC006020;AC006353;AC073095;AK294062;AMYH01017898;BC131736;CH236947;CH471070;CX868991;CX872418;DA101746;DA454064;M93426;NG_023266;NM_001206838;NM_001206839;NM_002851;U88967;X54135 AAA60225;AAC39934;AAF03527;AAI72407;BAG57408;CAA38070;EAL24344;EAW83560;EAW83561;EAW83562;EAW83563;NP_001193767;NP_001193768;NP_002842;P23471 Hs.489824 1656900;1659913;1665378;1678605;1718207;1718223;1768301;1798058;2111037;2138099;2187546 D7S2737;D7S466;D7S601E;PTPRZ;PTPRZ1_2426;RH122873;RH122881;RH26920;RH47696;SHGC-30278;SHGC-36248 HPTPZ;HPTPzeta;PTP-ZETA;PTP18;PTPRZ;PTPZ;R-PTP-zeta-2;RPTPB;RPTPbeta;phosphacan OTTHUMP00000211397;OTTHUMP00000211398;R-PTP-zeta;R-PTP-zeta-2;protein tyrosine phosphatase, receptor-type, zeta polypeptide 1;protein-tyrosine phosphatase receptor type Z polypeptide 1;protein-tyrosine phosphatase receptor type Z polypeptide 2;receptor-type tyrosine phosphatase beta/zeta;receptor-type tyrosine-protein phosphatase zeta APPROVED protein-coding ENSG00000106278 9685 01481 176891;600263 REVIEWED 1353626 PTPRU protein tyrosine phosphatase, receptor type, U The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010] 1 1 p35.3 29435634 29525903 + 29563028 29653325 + 1580863;1642652;1642654;1642656;6480464 11086029;17457373;16539708 16574648;8700514;12501215;16564554;16298104;15146197;14702039;12477932;10397721;10395944;10196137;9624153;9434160;9305862;9070223;8889548;8870675;20889312;17622474;18951430;20379614;19528353;9054423;21139048;21906983;22219177;11781100;23535911 10076 E9PH42;F8W7J5;Q92850 AB208855;ABBA01035082;ABBA01035083;ABBA01035084;ABBA01035085;AK094849;AL049570;AL590729;AL645859;AMYH01000442;AMYH01000443;BC033131;BC146655;BM799833;BU687539;CH471059;CN410555;NM_001195001;NM_005704;NM_133177;NM_133178;U60289;U71075;U73727;X95712;X97198 AAB07074;AAB51343;AAC51938;AAI46656;BAD92092;BAG52941;CAA65016;CAA65832;EAX07650;EAX07651;EAX07652;NP_001181930;NP_005695;NP_573438;NP_573439;Q92729 Hs.19718 1712026;1713491;1727971;1733132;1779005;1779007;1798056;1849410;2159034 A002C06;D1S1447;D1S2653;G19916;G63405;HSC05H092;PTPRU_2553;RH118710;RH120229 FLJ37530;FMI;GLEPP1;PCP-2;PTP;PTP-J;PTP-PI;PTP-RO;PTPPSI;PTPRO;PTPU2;R-PTP-PSI;R-PTP-U;hPTP-J OTTHUMP00000003801;OTTHUMP00000003802;OTTHUMP00000234791;OTTHUMP00000234792;PTP pi;PTP-RO;R-PTP-U;Receptor protein tyrosine phosphatase hPTP-J;pancreatic carcinoma phosphatase 2;pi R-PTP-Psi;protein tyrosine phosphatase J;protein tyrosine phosphatase receptor omicron;protein-tyrosine phosphatase J;protein-tyrosine phosphatase pi;protein-tyrosine phosphatase receptor omicron;receptor-type protein-tyrosine phosphatase psi;receptor-type tyrosine-protein phosphatase U APPROVED protein-coding ENSG00000060656 9683 03908 602454 REVIEWED 1606864 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 2 2 2 p23.3 24853469 24856584 - 24866640 24869755 - 25013136 25016251 - 12477932;17207965 391356 Q6GMV3 ABBA01045122;AC013459;AMYH01010174;BC073803;CH471053;NM_001013663 AAH73803;ADQ32058;EAX00745;NP_001013685;Q6GMV3 Hs.406607 1676280;1679950 RH94260;RH99049 C2orf79 OTTHUMP00000200875;hypothetical protein LOC391356;peptidyl-tRNA hydrolase domain containing 1;peptidyl-tRNA hydrolase domain-containing protein 1;putative peptidyl-tRNA hydrolase PTRHD1 APPROVED protein-coding 33782 18406 PROVISIONAL 1320908 PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) 9 9 9 q34.11 101127119 101128828 - 129516048 129517757 - 130476227 130477936 - 6480464 15489334;14702039;14660562;12477932;20877624;18482256 138428 C9J7Z1;Q86Y79 ABBA01043840;AK090922;AL162426;AMYH01021732;BC015230;BC047012;CH471090;HB905510;HC962919;NM_001002913 AAH47012;ADR82643;CBF84778;CBV01429;EAW87685;EAW87686;NP_001002913;Q86Y79 Hs.653265 1677476;5015961 D15S1477;RH92521 C9orf115;MGC51999;PTH1 OTTHUMP00000213243;OTTHUMP00000213244;PTH;chromosome 9 open reading frame 115;probable peptidyl-tRNA hydrolase protein-coding ENSG00000187024 27039 12936 PROVISIONAL 1351902 PTTG3P pituitary tumor-transforming 3, pseudogene 8 8 8 q13.1 63672531 63673139 - 67842186 67842794 - 67679632 67680240 - 1580863;6480464 18029348;16201836;10806349;21906983 26255 Q9NZH4 ABBA01041882;AC011031;AF095289;AF200720;AMYH01018774;AY028471;DQ120700;NR_002734 AAC64411;AAF72580;AAK40241;ABC40663;Q9NZH4 Hs.647156 5492593 UniSTS:481730 PTTG3;rcPTTG1 APPROVED pseudo ENSG00000213005 13422 PROVISIONAL 1353096 PTTG4P pituitary tumor-transforming 4 pseudogene 14 14 14 q24.2 51615374 51615853 - 70621768 70622447 - 71552114 71552593 - 9847074 326315 ABBA01030800;AC005230;AMYH01005835;NG_002565 pseudo 20055 INFERRED 1317017 PTRF polymerase I and transcript release factor This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009] 17 17 q21.2 37808001 37828800 - 40554467 40575338 - 6480464;7240710 22461895;9582279;17026959;15242332;19068216;17081983;15951569;15592455;15489334;14702039;12477932;10727401;21102463;20732728;19726876;20300641;20427576;20684003;21152401;22937058;21343302;21445100;22939629;23214712;23402259;23455922;21913217;21705337;18781797;20360068;21683594;21987572;21139048;21890473;21906983;21963094;19322201;21150319;23000965 284119 B3KRY5;Q6NZI2 ABBA01006425;AC107993;AF000421;AF312393;AK000715;AK074512;AK092406;AK298072;AK298563;AK314389;AL050224;AMYH01008393;BC004295;BC008849;BC066123;BC073759;CH471152;NG_015845;NM_012232 AAC63404;AAG27093;AAH04295;AAH08849;AAH66123;AAH73759;BAG37014;BAG52547;BAG60361;BAG60757;EAW60828;NP_036364;Q6NZI2 Hs.437191 1666527;2117411 SGC30365;STS-W93348 CAVIN;CAVIN1;CGL4;FKSG13;FLJ90031;cavin-1 RNA polymerase I and transcript release factor;TTF-I interacting peptide 12;polymerase I and transcript release factor APPROVED protein-coding ENSG00000177469 9688 04433 603198;613327 REVIEWED 1605189 PTX4 pentraxin 4, long PTX4 belongs to the pentraxin (PTX) superfamily of multifunctional conserved proteins. Pentraxins are characterized by a cyclic multimeric structure and a conserved C-terminal pentraxin domain of approximately 200 amino acids. All pentraxins have a conserved 8-amino acid sequence, HxCxS/TWxS, in which x is any amino acid, within their pentraxin domain. Pentraxins are divided into short proteins, such as C-reactive protein (CRP; MIM 123260) and serum amyloid P protein (APCS; MIM 104770), and long proteins, such as PTX3 (MIM 602492) and PTX4. Some PTXs are part of the humoral arm of innate immunity and behave as functional ancestors of antibodies by mediating agglutination, complement activation, and opsonization (summary by Martinez de la Torre et al., 2010 [PubMed 20357257]).[supplied by OMIM, Jun 2010] 16 16 16 p13.3 1748221 1750749 - 1475941 1478469 - 1535940 1538468 - 11157797;20357257;22504420 390667 H3BSQ8;Q96A99 ABBA01030306;AE006467;AL031705;AMYH01007035;CH471112;NM_001013658 AAI56067;AAI56945;AAK61283;EAW85652;NP_001013680;Q96A99 Hs.553770 C16orf38 neuronal pentraxin II-like;neuronal pentraxin-like protein C16orf38;pentraxin-4 APPROVED protein-coding ENSG00000251692 14171 18401 613442 PROVISIONAL 68511 PTTG1 pituitary tumor-transforming 1 The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. [provided by RefSeq, Jul 2008] 5 5 q35.1 159781443 159788324 + 159848865 159855746 + 1580863;68295;6480464;6907045 9092795 17962814;17854787;17652795;17507465;17383977;17353909;17297475;17210994;17071631;16964243;16926250;16820881;16809406;16799481;16705313;16705156;16685397;16394085;16292982;16205121;15922332;15897900;15880121;15846392;15769981;15649325;15591026;15514942;15302935;15281346;15178645;15024062;14966902;14709851;14671639;12960092;12958169;12727994;12590639;12554778;12477932;12444553;12403781;12355087;12324572;12213878;11553328;11371342;11238996;11179223;11158059;10781616;10656688;10580151;10411507;10393434;10365261;10022450;9925941;9892021;18460583;15989971;12194817;9811450;9915854;12070128;19407503;19351864;19302955;19117984;19053469;19008095;18984771;18753362;18663361;18620995;18594525;18550719;18522889;18451147;18426563;18384692;18339849;18245958;18217976;18047793;15916961;20628624;20677014;16479161;20452981;20506293;20621061;20953187;20962850;21068098;19000457;18029348;19477929;19539243;19690544;19837943;19958546;20106827;20116377;20198633;20406982;21408207;21439054;20978326;21336306;21129230;21099350;20650808;23523951;23091007;23239745;21272169;15611659;21176344;19840458;21069851;20080579;21757741;19475398;20360068;21839581;23404407;23707760;21858218;22193957;22260438;22419713;22783570;21937724;21963094;22522436;21906983;16455800;17360335;21126432;21181309;22002306;22081074;22475756;22511756;22791750;23267136;11562349;22209758;22994714;22819078;18485873;16921029;22505724;22805307;23051594 9232 E5RJR4;O95997;Q6IAL9 ABBA01044218;AC091842;AF062649;AF075242;AF095287;AF167560;AF167564;AJ223953;AK312209;AMYH01015760;BC026003;BC101834;BC108894;BC108895;BC112071;BC113842;BC113896;BC128193;BC128194;CH471062;CR457135;CR541685;GN344095;NM_004219 AAC64409;AAC69752;AAD19335;AAF06995;AAI01835;AAI08895;AAI08896;AAI12072;AAI13843;AAI13897;AAI28194;AAI28195;BAG35142;CAA11683;CAG33416;CAG46486;CAY55983;EAW61551;EAW61552;EAW61553;NP_004210;O95997 Hs.350966 1767813;5492593 RH35896;UniSTS:481730 EAP1;HPTTG;MGC126883;MGC138276;PTTG;TUTR1 ESP1-associated protein 1;OTTHUMP00000160845;OTTHUMP00000224265;OTTHUMP00000224267;pituitary tumor-transforming gene 1 protein;securin;tumor-transforming protein 1 1643361;2289409 BW307_H;BW320_H APPROVED protein-coding ENSG00000164611 9690 04998 604147 REVIEWED 1315534 PTTG2 pituitary tumor-transforming 2 4 4 4 p12 38402353 38402928 + 37638451 37639026 + 37962056 37962631 + 1580863;6480464;6907045 12477932;10806349;10084610;18029348;21832049;22699663;23470537 10744 Q9NZH5 ABBA01074316;AC021106;AF095288;AF116538;AF200719;AMYH01014113;BC069114;BC069400;NM_006607 AAC64410;AAD41262;AAF72579;AAH69114;AAH69400;NP_006598;Q9NZH5 Hs.668806 1725193;1767813;2109711;5492593 PTTG2_3222;RH124070;RH35896;UniSTS:481730 OTTHUMP00000218176;pituitary tumor-transforming gene 2 protein;securin-2 protein-coding ENSG00000250254 9691 09176 604231 VALIDATED 68525 PTS 6-pyruvoyltetrahydropterin synthase The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008] 11 11 q22.3 111602309 111609903 + 112097088 112104696 + 1580863;1601576;1300048;6480464;6907045;7240710 8178819 3308682;11256614;19360691;19350512;17590551;17407085;17270157;16381901;16189514;16169070;16135092;16086286;15489336;15489334;15197144;14729142;14551150;12477932;11937441;11916314;11744995;11591653;11438997;11076863;10727395;10531334;10220141;9450907;9222757;9222755;9159737;8841415;8707300;8216273;8188266;7493990;1883524;1282802;10608806;7698774;18505119;19491146;19674121;20877624;19167051;19830588;19060904;21963094;23000965;23184937;21890473;21906983;22237589 5805 E9PJM0;E9PKY8;E9PNN3;Q03393 AB042297;ABBA01039801;AK307133;AK310768;AMYH01004035;AP002884;BC009686;BC018029;CF529329;CH471065;D17400;D25234;EF445018;L76259;M97655;NG_008743;NM_000317;U63382;U63383 AAA51541;AAB64229;AAC16970;AAH09686;AAH18029;ABM81887;ABM85059;ACA06065;BAA04224;BAA04959;BAA95486;CAL37554;CAL38178;CAL38544;EAW67195;NP_000308;Q03393 Hs.503860 1775412;1855018;5117534;5117536 GDB:574088;GDB:574111;PTPS;SHGC-12504 FLJ97081;PTPS 6-pyruvoyl tetrahydrobiopterin synthase;6-pyruvoyl-tetrahydropterin synthase;OTTHUMP00000235385;PTP synthase APPROVED protein-coding ENSG00000150787 9689 11840 261640;612719 REVIEWED 1602115 PTRH2 peptidyl-tRNA hydrolase 2 17 17 17 q23.1 54238418 54248606 - 55129449 55139638 - 57774667 57784856 - 6480464 18703509;17511679;15489334;15006356;14702039;14660562;12477932;10810093;18029348;19578750;20877624;21383007;22939629;21886829;21139048;21890473;21906983;21963094;23000965;23248118;22952044;23259782 51651 J3KQ48;Q9Y3E5 ABBA01003171;ABBA01003172;AC091271;AF151905;AK057033;AK098219;AL137322;AMYH01008526;BC006807;BC017457;BX647177;CH471109;NM_016077 AAD34142;AAH06807;ACE86959;ACE87649;BAB71351;BAG53596;CAB70696;EAW94394;NP_057161;Q9Y3E5 Hs.12677 1645023;1686080;2109101;2157850 Bit1_9746;D17S2149;RH93739;WI-20523 BIT1;CGI-147;FLJ32471;PTH2 OTTHUMP00000205935;OTTHUMP00000205936;PTH 2;bcl-2 inhibitor of transcription 1;peptidyl-tRNA hydrolase 2, mitochondrial protein-coding ENSG00000141378 24265 12273 608625 VALIDATED 1314337 PTTG1IP pituitary tumor-transforming 1 interacting protein The encoded protein, which directly binds to pituitary tumor-transforming gene 1 protein (PTTG1), facilitates the nuclear translocation of PTTG1 and potentiates the transcriptional activation of basic fibroblast growth factor by PTTG1. The gene product localizes to both the cytoplasm and nucleus. Its NLS is required for its own nuclear localization, the nuclear localization of PTTG1, and its interaction with PTTG1. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 31376467 31400666 - 45093941 45118169 - 46269500 46293818 - 1580863;6480464 10781616;17297475;15489334;15190888;15178645;14702039;12958169;12477932;10830953;9570958;16712791;21129230;22505724;21139048;21844185;21890473;21906983;21963094;21987572;22404099;21988832;22888961;23000965;23221562 754 A8MXQ1;A8MZH8;B4DPZ0;P53801 ABBA01074178;AF149785;AK094882;AK095586;AK290139;AK298557;AK299204;AK315626;AL163300;AL773603;AMYH01012301;BC000415;BC012858;BC019295;BC020983;BC031097;BC034250;BG721942;CB109980;CH471079;DC396020;L48984;NM_004339;Z50022 AAF73770;AAH00415;AAH12858;AAH19295;AAH20983;AAH31097;AAH34250;ABM82698;ABM85882;BAF82828;BAG37994;BAG60752;BAG61244;CAA90325;CAB90552;EAX09386;EAX09387;EAX09388;NP_004330;P53801 Hs.474010 1730875;1733434;1793956;1856177;2131025;2145069;2187263;5037552;5121096;5123923 D17S1287;D21S401;D8S2279;G31032;PMC310701P5;RH77710;RH77865;SHGC-51796;SHGC-52035;WI-11321 C21orf1;C21orf3;PBF OTTHUMP00000115272;OTTHUMP00000115273;PTTG-binding factor;pituitary tumor-transforming gene 1 protein-interacting protein;pituitary tumor-transforming gene protein-binding factor APPROVED protein-coding ENSG00000183255 13524 04807 603784 REVIEWED 1343528 PTX3 pentraxin 3, long 3 3 q25 158637301 158644071 + 157154580 157161417 + 1580863;6480464 18703503;12006390;7679696;21330486;1429570;19396030;19389798;19327124;19273457;19211665;19164811;19131771;19079137;19050261;19014569;18685085;18676013;18650775;18571180;18417746;18292565;18048494;18045580;17947708;17786277;17675295;17611589;17496115;17487767;17441979;17424885;17380301;17277044;17095712;16981714;16865225;16769728;16647920;16617159;16380821;16344560;16339571;16166594;16020751;15489334;15308113;15262177;14603263;14515272;12763682;12645945;12611905;12538709;12477932;12006411;21989653;12004288;11762945;10931803;9521058;9407058;9119472;8131794;7949102;7523502;1730767;15894273;20515753;21072498;21072499;19913121;20628086;20134101;20378410;21920889;19565609;19632990;19718477;19772962;19792835;19794969;19811281;19846603;19900712;19917159;20022320;20363749;20391484;20399512;20430947;20927127;20683616;20356766;20121391;20640440;21391986;21106539;22847671;22883522;22304663;23341967;21423699;21490156;21388349;20508541;21796992;21716666;21389698;21529268;22714118;21465531;21677138;21173097;21257721;21501295;21880642;21948359;22053612;21764903;21900125;21933102;22072855;21883907;23527487;22319633;22577258;22178425;21112127;21915248;21953577;22267482;22123215;22309253;22546644;22278372;23285251;23169308;23424081;21914683;22447522;23062219;22889492;22834944;22687644;22747472;22822025;22529962;22785134;22617341 5806 P26022 ABBA01058829;AC020630;AK312705;AMYH01013602;BC027887;BC039733;BQ010272;CH471052;DA716533;DQ207368;M31166;NM_002852;X63053;X63613 AAA61234;AAH39733;ABA64467;BAG35583;CAA44778;CAA45158;EAW78708;NP_002843;P26022 Hs.591286 1647734;1662040;1743093;1798060 GDB:252088;PTX3_470;SHGC-77488;WI-7070 TNFAIP5;TSG-14 OTTHUMP00000213379;TNF alpha-induced protein 5;pentaxin-related gene, rapidly induced by IL-1 beta, tumor necrosis factor, alpha-induced protein 5;pentaxin-related gene, rapidly induced by il-1 beta;pentaxin-related protein PTX3;pentraxin-3;pentraxin-related gene, rapidly induced by IL-1 beta;pentraxin-related protein PTX3;tumor necrosis factor alpha-induced protein 5;tumor necrosis factor, alpha-induced protein 5;tumor necrosis factor-inducible gene 14 protein;tumor necrosis factor-inducible protein TSG-14 APPROVED protein-coding ENSG00000163661 9692 03928 602492 VALIDATED 1318376 PURA purine-rich element binding protein A This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008] 5 5 q31 139473892 139476505 + 139493708 139499001 + 1580863;6480464 9334258;15777841;1545807;9716182;19267365;19165527;18780968;18413735;18386260;18258596;17722108;17641060;17081983;15707957;15517862;12972605;12933792;12565890;12491158;12477932;12411317;12147688;12034829;11937543;11751932;11730934;11596104;11417483;11413364;11181995;11169743;11032728;10954586;10679817;10597240;10500218;10457364;10412036;10318844;9383706;8943069;8759014;7862639;7606931;7592647;1448097;16741963;17353931;10082537;9830007;21145461;17643375;18927497;21062477;22835829;22939629;16196087;21151833;21139048;21890473;21903422;23000965;23151878;21628590;18187620;19182532;22337293 5813 Q00577;Q5U0P9 ABBA01026440;AC011379;AMYH01015655;BC036087;BC110574;BC110594;BT019388;CH471062;CK819077;M96684;NM_005859;X91648 AAA60229;AAH36087;AAI10575;AAI10595;AAV38195;EAW62076;NP_005850;Q00577 Hs.443121;Hs.733524 2219578;5493039 PURA__5615;UniSTS:483914 PUR-ALPHA;PUR1;PURALPHA OTTHUMP00000159547;purine-rich single-stranded DNA-binding protein alpha;transcriptional activator protein Pur-alpha APPROVED protein-coding 9701 02721 600473 REVIEWED 1312911 PURG purine-rich element binding protein G The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 8 8 8 p11 29813365 29851272 - 30972863 31010773 - 30853321 30891231 - 6480464 15489334;12477932;12034829 29942 K7ENC1;Q9UJV8 ABBA01023645;ABBA01023646;ABBA01023647;AC008066;AC084736;AF195513;AMYH01018621;AMYH01018622;AMYH01018623;AY077841;BC106708;CH471080;NM_001015508;NM_013357 AAF03900;AAI06709;AAL77218;EAW63428;EAW63429;NP_001015508;NP_037489;Q9UJV8 Hs.373778 1791394;1791608;2113888;2122786;5492463;5493601 AB060832;PMC109206P1;PMC117198P1;SHGC-30538;UniSTS:481162;UniSTS:488917 MGC119274;PURG-A;PURG-B OTTHUMP00000212016;OTTHUMP00000212017;Pur-gamma;purine-rich element-binding protein gamma APPROVED protein-coding ENSG00000172733 17930 17933 REVIEWED 731253 PUF60 poly-U binding splicing factor 60KDa This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 8 8 q24.3 144970535 144983525 - 144898514 144911556 - 6480464;6907045 16169070;16713569;17353931;18255255;11445587;18974054;17579712;16628215;16189514;15324660;14702039;12477932;11239393;10882074;10866799;10668799;10606266;12234937;21145461;21319273;22496461;17332742;20420426;17643375;16159877;18258596;22863883;22990118;20508642;19738201;21963094;21988832;22365833;23000965;23113893;23208506;23752268;22939629;18029348;21078624;22079093;19471022;21139048;21693764;21890473;21906983;22446626;22586326;10524322;15146197;16452196;18056422;18193062;19273283;22505724 22827 E9PL19;E9PMU7;E9PN18;E9PQ56;H0YCP8;H0YEM1;Q9UHX1 ABBA01005239;AC105049;AC105219;AC234917;AF114818;AF190744;AF217197;AK055941;AK292373;AL522753;AMYH01019117;AW249619;BC008875;BC009734;BC011265;BC011979;BC035435;BG771821;BX418925;CH471162;CN371576;CR457143;CT000277;CX163878;NM_001136033;NM_001271096;NM_001271097;NM_001271098;NM_001271099;NM_001271100;NM_014281;NM_078480;U51586 AAB41656;AAF05605;AAF23589;AAF27522;AAH08875;AAH09734;AAH11265;AAH11979;BAF85062;CAG33424;EAW82184;EAW82185;EAW82186;EAW82187;EAW82188;EAW82189;EAW82190;EAW82191;EAW82192;EAW82193;EAW82194;EAW82195;NP_001129505;NP_001258025;NP_001258026;NP_001258027;NP_001258028;NP_001258029;NP_055096;NP_510965;Q9UHX1 Hs.521924 2126488;2135632 RH70666;WI-19511 FIR;FLJ31379;RoBPI;SIAHBP1 60 kDa poly(U)-binding-splicing factor;FBP interacting repressor;FBP-interacting repressor;FUSE-binding protein-interacting repressor;OTTHUMP00000228645;OTTHUMP00000228646;OTTHUMP00000228647;OTTHUMP00000228648;OTTHUMP00000228649;OTTHUMP00000228650;OTTHUMP00000228652;OTTHUMP00000228653;Ro ribonucleoprotein binding protein 1;Ro ribonucleoprotein-binding protein 1;Siah binding protein 1;poly(U)-binding-splicing factor PUF60;poly-U binding splicing factor PUF60;pyrimidine tract binding splicing factor;ro-binding protein 1;roBP1;siah binding protein 1; fbp interacting repressor; pyrimidine tract binding splicing factor; ro ribonucleoprotein-binding protein 1;siah-BP1;siah-binding protein 1 APPROVED protein-coding ENSG00000179950 17042 18051 604819 REVIEWED 1322257 PUM2 pumilio homolog 2 (Drosophila) 2 2 p22-p21 20311934 20390625 - 20448453 20527144 - 6480464 12511597;19168546;17154300;17081983;16967088;15815621;15617101;15607425;15489334;15302935;14702039;12771951;12690449;12477932;12459267;12421765;12168954;9039502;22345517;21397187;21589936;21800163;21139048;21906983;22231398;21649561;19322201;18029348;22190034;22505724 23369 B4E2B6;C9JE24;C9JW01;F2Z366;F8WD57;Q8TB72 ABBA01018474;ABBA01018475;ABBA01018476;AC007041;AF272350;AF315591;AK093847;AK304198;AMYH01010149;AMYH01010150;AMYH01010151;BC024218;BC112046;BC112048;BC143550;BC143552;CH471053;D87078;NM_015317 AAG31806;AAH24218;AAI12047;AAI12049;AAI43551;AAL36981;AAY15026;BAA19665;BAG52772;BAG65078;EAX00821;EAX00822;EAX00823;EAX00824;NP_056132;Q8TB72 Hs.467824 1645917;1646557;1649163;1666757;1688865;1693550;1724781;1752891;1851849;2124126;2147298;2147300;2190549;5016012 38994323;A001Y33;EST24F7;G09500;G16351;G19793;RH12096;RH122597;RH12262;RH25440;RH79823;SHGC-106834;SHGC-31204;SHGC-58462 FLJ36528;KIAA0235;MGC138251;MGC138253;PUMH2;PUML2 OTTHUMP00000151186;OTTHUMP00000200539;OTTHUMP00000200540;pumilio homolog 2;pumilio-2 protein-coding ENSG00000055917 14958 09527 607205 PROVISIONAL 1345902 PUS3 pseudouridylate synthase 3 The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 11 11 11 q24.2 122923405 122933137 - 125268590 125278315 - 125763380 125773116 - 737633;6480464 12477932 16341674;15489334;14702039;11027153 83480 E9PNY6;E9PRI9;Q9BZE2 ABBA01031233;AF325689;AK055702;AK074218;AK314251;AMYH01004109;AP000842;BC004822;BC013427;BM786445;CH471065;CR982568;NG_033067;NM_001271985;NM_031307 AAG50280;AAH04822;AAH13427;ABM87652;ABM87653;ABW03597;ABW03906;BAB70990;BAG36917;EAW67667;NP_001258914;NP_112597;Q9BZE2 Hs.660922 2151203 RH47976 2610020J05Rik;FKSG32;FLJ23638 OTTHUMP00000231362;tRNA pseudouridine synthase 3;tRNA pseudouridine(38/39) synthase;tRNA pseudouridylate synthase 3;tRNA-uridine isomerase 3 protein-coding ENSG00000110060 25461 15195 REVIEWED 1316232 PUM1 pumilio homolog 1 (Drosophila) This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 p35.2 31176940 31311151 - 31404353 31538564 - 1580863;6480464 19319195;18411299;18328718;18211679;17081983;16713569;16710414;16429158;15489334;15231748;15146197;14702039;14584586;12771951;12477932;12459267;12202039;11336708;8125298;7788527;21145461;21397187;11031247;11252894;17116749;20379614;22586326;20818387;22939629;22916034;21139048;21890473;21906983;22345517;19322201;22505724 9698 B4DG92;E7EWT3;E9PL65;E9PM68;E9PMX1;E9PR38;H0YC97;H0YCK1;H0YDC5;H0YDK8;H0YDQ6;H0YED4;H0YEH2;Q14671;Q5T1Z4;Q5T1Z8 ABBA01023486;ABBA01023487;ABBA01023488;ABBA01023489;ABBA01023490;ABBA01023491;ABBA01023492;AF315592;AK056662;AK096476;AK222605;AK291779;AK294477;AK300457;AL356320;AL445235;AL699026;AMYH01000452;BC013398;BX647437;CH471059;CN402209;D43951;NM_001020658;NM_014676 AAG31807;AAH13398;ADZ15564;BAA07895;BAD96325;BAF84468;BAG53299;BAG57703;BAG62177;EAX07630;EAX07631;EAX07632;EAX07633;EAX07634;NP_001018494;NP_055491;Q14671 Hs.281707 1334530;1341567;1660935;1663014;1675227;1691962;1720673;1792332;1796604;2126123;2149325;2182109 AL033634;D1S1161;D1S233;D1S3716;G06256;G59151;PMC141031P1;PUM1_403;RH25326;RH68367;SHGC-74502;SHGC-74520 HSPUM;KIAA0099;PUMH;PUMH1;PUML1 OTTHUMP00000003892;OTTHUMP00000003893;OTTHUMP00000003894;OTTHUMP00000003895;OTTHUMP00000235189;OTTHUMP00000235190;OTTHUMP00000235191;OTTHUMP00000235192;OTTHUMP00000235193;OTTHUMP00000235194;pumilio homolog 1;pumilio-1 APPROVED protein-coding ENSG00000134644 14957 06230 607204 REVIEWED 1606697 PUS10 pseudouridylate synthase 10 Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009] 2 2 2 p16.1 61011139 61088956 - 61022608 61098712 - 61167548 61245365 - 6480464 19240061;19068216;17900615;15342556;14702039;14527409;12477932;19712588;19773279;20190752;20468071;21102463;21072187;20228799;21298027;21297633;22412388;23128233 150962 A8MUL8;C9JNL8;Q3MIT2 AA878516;ABBA01075341;AC010733;AK056874;AK291729;AL832208;AMYH01010379;BC101680;BC101706;BC143480;BP354604;CH471053;NM_144709 AAI01681;AAI01707;BAB71300;BAF84418;CAI46123;EAX00022;EAX00023;EAX00024;EAX00025;EAX00026;EAX00027;NP_653310;Q3MIT2 Hs.368348 1655470;1674234;1760717;2117120 SHGC-144246;SHGC-56768;WI-15536;WIAF-2118 CCDC139;DOBI;FLJ32312;MGC126729;MGC126755 OTTHUMP00000159792;OTTHUMP00000201431;coiled-coil domain containing 139;coiled-coil domain-containing protein 139;pseudouridine synthase 10;psi55 synthase;putative tRNA pseudouridine synthase Pus10;tRNA pseudouridine 55 synthase;tRNA pseudouridylate synthase;tRNA-uridine isomerase APPROVED protein-coding 26505 08126 612787 VALIDATED 1353565 PURB purine-rich element binding protein B This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008] 7 7 7 p13 45014669 45023741 - 44882417 44891485 - 44915892 44924960 - 1580863;6480464 11417483;17081983;15489334;15302935;14702039;12933792;12853948;12690205;12477932;10318844;9847074;1448097;21145461;19496623;20201926;22863883;22939629;21151833;21139048;19322201;18029348;22174317 5814 Q96QR8 AA016115;AACC02000110;ABBA01058239;AC004854;AI050971;AI209043;AI912557;AK054977;AK056651;AK057669;AL119133;AL705373;AMYH01017219;AY039216;BC101735;BC101737;BF964815;BG776957;BM015566;BQ890213;BU154650;BU177276;CB046374;CH236960;CH471128;NM_033224;R89560 AAI01736;AAI01738;AAK72462;AAS00366;EAL23749;EAW61073;NP_150093;Q96QR8 Hs.596321;Hs.743235 1645627;1667868;1777691;1790193;2124191;5022200;5022450;5024039;5037552;5492397;5492953;5493523 A006U23;AA859841;D10S275;D16S325;D7S2274;D8S2279;L18426;SGC32761;SHGC-31275;UniSTS:480909;UniSTS:483353;UniSTS:487017 MGC126784;MGC126786;PURBETA OTTHUMP00000159538;purine-rich element-binding protein B;transcriptional activator protein Pur-beta APPROVED protein-coding ENSG00000146676 9702 12325 608887 REVIEWED 1353807 PUSL1 pseudouridylate synthase-like 1 1 1 1 p36.33 1334084 1337147 - 1233857 1236920 + 1243994 1247057 + 737633;1580863;6480464 12477932 16303743;15489334;14702039;17207965;21832049;20186120;21906983;23128233 126789 J3KTG4;Q8N0Z8 ABBA01016030;AK027721;AK075292;AK298218;AL139287;AMYH01000124;AMYH01000125;AMYH01000126;AMYH01000127;BC034304;CH471183;CQ784021;NM_153339 AAH34304;ADQ31889;BAC11527;BAG60488;CAF86973;EAW56245;NP_699170;Q8N0Z8 Hs.400659 1682405;1688951;1739935 D1S2520;RH76790;RH91825 FLJ90811 OTTHUMP00000003420;tRNA pseudouridine synthase-like 1;tRNA pseudouridylate synthase-like 1;tRNA-uridine isomerase-like 1 protein-coding ENSG00000169972 26914 08301 PROVISIONAL 7247303 PVRIG2P poliovirus receptor related immunoglobulin domain containing 2, pseudogene 101752334 AC005071;DR001780;NR_103728 Hs.521075 pseudo 48897 INFERRED 1323553 PUS1 pseudouridylate synthase 1 This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] 12 12 12 q24.33 132032281 132046846 + 130979742 130994357 + 132413745 132428406 + 1580863;6480464;7240710 10094309;18648068;17081983;17056637;16964243;15772074;15498874;15489334;15108122;12477932;16712791;19731322;20843780;22863883;22939629;22990118;20186120;19805454;22998747;19471022;21139048;22102571 80324 E5KMT5;E5KMT6;F5GXL3;F5GY32;F5H168;F5H1B2;F5H1S9;F8W9U5;G8JLB3;Q9Y606 ABBA01032798;AC131009;AF116238;AF318369;AI566545;AI884644;AK074659;AK292242;AMYH01004901;BC002901;BC009505;BC019320;BC035964;BG336824;BM923133;BX340929;CB118952;CH471054;CQ783543;HQ205066;HQ205067;HQ205068;HQ205069;HQ205070;HQ205071;HQ205072;HQ205073;HQ205074;HQ205075;HQ205076;HQ205077;HQ205078;HQ205079;HQ205080;HQ205081;HQ205082;HQ205083;HQ205084;HQ205085;HQ205086;HQ205087;HQ205088;HQ205089;HQ205090;HQ205091;HQ205092;HQ205093;HQ205094;HQ205095;HQ205096;HQ205097;HQ205098;HQ205099;HQ205100;HQ205101;HQ205102;HQ205103;HQ205104;HQ205105;NG_013039;NM_001002019;NM_001002020;NM_025215 AAD21042;AAH02901;AAH09505;AAH19320;AAL55876;ABM83888;ABM87208;ADP90494;ADP90495;ADP90496;ADP90497;ADP90498;ADP90499;ADP90500;ADP90501;ADP90502;ADP90503;ADP90504;ADP90505;ADP90506;ADP90507;ADP90508;ADP90509;ADP90510;ADP90511;ADP90512;ADP90513;ADP90514;ADP90515;ADP90516;ADP90517;ADP90518;ADP90519;ADP90520;ADP90521;ADP90522;ADP90523;ADP90524;ADP90525;ADP90526;ADP90527;ADP90528;ADP90529;ADP90530;ADP90531;ADP90532;ADP90533;ADP90534;ADP90535;ADP90536;ADP90537;ADP90538;ADP90539;ADP90540;ADP90541;ADP90542;ADP90543;ADP90544;ADP90545;ADP90546;ADP90547;ADP90548;ADP90549;ADP90550;ADP90551;ADP90552;ADP90553;ADP90554;ADP90555;ADP90556;ADP90557;ADP90558;ADP90559;ADP90560;ADP90561;ADP90562;ADP90563;ADP90564;ADP90565;ADP90566;ADP90567;ADP90568;ADP90569;ADP90570;ADP90571;ADP90572;ADP90573;BAF84931;BAG51983;CAF86716;EAW98530;EAW98531;EAW98532;EAW98533;NP_001002019;NP_001002020;NP_079491;Q9Y606 Hs.592004 1655198 RH44488 MGC11268;MLASA;MLASA1 OTTHUMP00000158623;OTTHUMP00000237726;OTTHUMP00000237727;OTTHUMP00000237728;mitochondrial tRNA pseudouridine synthase A;tRNA pseudouridine synthase A;tRNA pseudouridine synthase A, mitochondrial;tRNA pseudouridine(38-40) synthase;tRNA pseudouridylate synthase I;tRNA uridine isomerase I;tRNA-uridine isomerase I APPROVED protein-coding ENSG00000177192 15508 10481 600462;608109 REVIEWED 1606495 PUS7L pseudouridylate synthase 7 homolog (S. cerevisiae)-like 12 12 12 q12 42924817 42954984 - 42408677 42438863 - 44122410 44152596 - 6480464 16381901;16344560;15489336;14702039;12477932;11230166;11076863;8125298;22610502;20379614;19913121;20628086;21832049;21139048;23314748 83448 B3KUJ1;F8VP66;F8VW99;F8VWC0;F8VZA0;Q9H0K6 ABBA01031420;ABBA01031421;AC016143;AC093012;AK092030;AK097331;AK225903;AL136759;AMYH01004415;BC018000;BC020781;BC033621;BC068502;BX647494;CH471111;CR627435;DA950015;DB073931;DB518759;NM_001098614;NM_001098615;NM_001271826;NM_031292 AAH20781;AAH33621;AAH68502;BAG53453;CAB66693;CAH10521;CAL37849;EAW57866;NP_001092084;NP_001092085;NP_001258755;NP_112582;Q9H0K6 Hs.445814 DKFZp434G1415;DKFZp781B2386;FLJ34711;FLJ40012 OTTHUMP00000241029;OTTHUMP00000241030;OTTHUMP00000241031;OTTHUMP00000241032;pseudouridylate synthase 7 homolog-like protein protein-coding ENSG00000129317 25276 13189 VALIDATED 1604301 PVRIG poliovirus receptor related immunoglobulin domain containing 7 7 7 q22.1 94552220 94554458 + 99654807 99657047 + 99816871 99819111 + 16926269;12477932;8125298;17207965 79037 Q6DKI7;Q8ND88 AACC02000084;ABBA01013228;AC005071;AMYH01017729;BC001129;BC032113;BC073861;BC107873;BC112090;BC112092;CH236956;CH471091;CQ834392;NM_024070 AAH01129;AAH73861;AAI07874;ADQ31964;ADZ15343;CAH05411;EAW76566;EAW76567;NP_076975;Q6DKI7 Hs.729356 1685317;2218062;5492855 RH94384;STAG3_3530;UniSTS:483051 C7orf15;MGC104322;MGC138295;MGC138297;MGC2463 OTTHUMP00000210634;poliovirus receptor-related immunoglobulin domain-containing protein;transmembrane protein PVRIG protein-coding ENSG00000213413 32190 VALIDATED 1603643 PUS7 pseudouridylate synthase 7 homolog (S. cerevisiae) 7 7 7 q22.3 99902490 99967797 - 104884194 104949921 - 105096958 105162685 - 6480464 15489334;14702039;12853948;12477932;11572484;20379614;22863883;22939629;19471022;21139048;21890473;21906983;19322201;21252943;22053931 54517 B3KRB2;B3KY42;E7EUH7;H0Y863;Q96PZ0 AACC02000004;AB067484;ABBA01057947;ABBA01057948;AC073138;AC074013;AK000492;AK091283;AK128629;AMYH01017819;BC005209;BC011396;CH236947;CH471070;NM_019042 AAH05209;AAH11396;AAS02005;AAS07447;BAA91203;BAB67790;BAG52324;BAG54704;EAW83363;EAW83364;NP_061915;Q96PZ0 Hs.520619 2149498;2150552;5091713 RH36289;SGC32747;WI-11197 FLJ20485;KIAA1897;MGC17720 OTTHUMP00000212074;OTTHUMP00000212075;OTTHUMP00000212076;pseudouridylate synthase 7 homolog protein-coding ENSG00000091127 26033 07914 VALIDATED 735961 PVALB parvalbumin The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. [provided by RefSeq, Jul 2008] 22 22 q13.1 35526691 35545463 - 37196745 37215517 - 1580863;6480464;7204685 20943758 18469313;18297277;17850980;17405923;17244347;15489334;15461802;15257133;15059934;12867516;12477932;10591208;10036163;8804689;8354278;7790883;2614829;1561106;1559707;20093724;20926528;22272358;22509378;23251661;23470693 5816 B1AH72;B8ZZ19;H0Y3U0;P20472 AA771973;ABBA01055450;AI262242;AK311832;AMYH01012753;BC069300;BC096112;BC096113;BC096114;BC096115;CH471095;CR456552;NM_002854;X52695;X63070;X63578;Z82184;Z82185 AAH69300;AAH96112;AAH96113;AAH96114;AAH96115;BAG34774;CAA36924;CAA44792;CAA45134;CAG30438;CAK54583;CAK54882;EAW60118;EAW60119;EAW60120;EAW60121;NP_002845;P20472 Hs.295449 1741969;1742089;1853274;2138101;5014439 D22S1030;GDB:187324;GDB:190931;SGC30938;SHGC-11984 D22S749;MGC116759 OTTHUMP00000197804;OTTHUMP00000197805;OTTHUMP00000197806;OTTHUMP00000197807;OTTHUMP00000197808;parvalbumin alpha APPROVED protein-coding ENSG00000100362 9704 01353 168890 REVIEWED 5144682 PVRL3-AS1 PVRL3 antisense RNA 1 3 3 109163630 109187706 - 110764162 110788806 - 8889548 100506555 ABBA01061675;AC133477;AMYH01013389;BM678464;BU852869;NR_045114 Hs.535689 1856956 D3S4228 APPROVED miscrna 40813 VALIDATED 7246117 PWAR5 Prader Willi/Angelman region RNA 5 15 q11.2 25230007 25233379 + 6480464 12107410;15146197;19278672;7987392;8401585;9477342 8123 AA358385;ABBA01048688;AC124312;AF019618;AMYH01006484;CA392538;CN358995;NG_002690;NR_022008 Hs.660427 D15S226E;PAR5 miscrna 30090 600162 VALIDATED 1347394 PWCR Prader-Willi syndrome chromosome region 5821 9710 1342546 PWCR1 Prader-Willi syndrome chromosome region 1 15 q11.2 22883901 22885136 + 11726556;11106375;11007541 63968 AC124312;AF241255;AF250841;NG_002690;NR_003106 Hs.658578 PET1 miscrna 13423 1347607 PVRL4 poliovirus receptor-related 4 This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011] 1 1 q22-q23.2 159308120 159325966 - 161040781 161059385 - 737633;1580863;6480464;7240710 12477932 17474988;16344560;15784625;14702039;12011057;11544254;21333831;10225955;15811349;19679554;9845526;20691405;20959669;21346770;21526486;22048310;21901103;23202587;22926846;21982860;23174504;22869128 81607 B4DQW3;K4PZ75;Q96NY8 AB755430;ABBA01016599;ABBA01016600;AF160477;AF218028;AF426163;AK027753;AK298981;AK301481;AL591806;AMYH01001457;BC010423;BC013892;BX641083;CF529301;CH471121;DB223835;NG_028109;NM_030916 AAF82399;AAG17270;AAH10423;AAL23958;ABM84430;ABM87482;BAB55344;BAG61075;BAG62996;BAM65001;EAW52665;EAW52666;NP_112178;Q96NY8 Hs.492490;Hs.732297 2107539 PVRL4__6951 DKFZp686K05193;EDSS1;LNIR;PRR4;nectin-4 Ig superfamily receptor LNIR;OTTHUMP00000029698;nectin 4;poliovirus receptor-related protein 4 APPROVED protein-coding ENSG00000143217 19688 17934 609607;613573 REVIEWED 736513 PVR poliovirus receptor The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 19 19 q13.2 49839066 49858690 + 45147098 45169429 + 1580863;6480464;7240710 12913096;2538245;15039383;16831868;2170108;15034010;19319949;19056733;19011098;17893876;17534374;17507470;17446174;16344560;16335952;16216929;15640804;15607800;15536144;15489334;15471548;15279713;15194795;15194502;15136589;15076773;15057824;14702039;14652024;12943679;12759359;12663789;12477932;12195344;12011057;11983699;11751937;11573956;11437656;10841575;10737800;10618374;7914388;1851992;1701111;1331527;20634891;20331633;18029348;16304049;19011627;19801517;19815499;21330602;22692919;22939629;23333754;21998457;21906983;21833088;22363471;21383766;22301152;19322201;21963094;21988832;22929570;21982860;23276719;22169283 5817 F8W7D4;K7EMC6;K7EQU5;P15151 ABBA01040880;AC068948;AI374885;AK025949;AK094177;AK098812;AK290946;AK300349;AMYH01009842;BC015542;BE838104;CA416069;CH471126;DA849917;DC400059;HH958003;M24406;M24407;NG_008781;NM_001135768;NM_001135769;NM_001135770;NM_006505;X64116 AAA36461;AAA36462;AAF69803;AAH15542;ABM81895;ABM85069;BAF83635;BAG52836;BAG62091;CAA45478;CAA45479;CAA45480;CBX51265;EAW57284;EAW57285;EAW57286;NP_001129240;NP_001129241;NP_001129242;NP_006496;P15151 Hs.171844 1650790;1653350;1760671;2152014 RH35929;SHGC-144216;SHGC-31865;STS-H99988 CD155;FLJ25946;HVED;NECL5;Necl-5;PVS;TAGE4 OTTHUMP00000200165;OTTHUMP00000200167;OTTHUMP00000200168;nectin-like 5;nectin-like protein 5;poliovirus receptor;tumor-associated antigen 1 APPROVED protein-coding ENSG00000073008 9705 01434 173850 REVIEWED 1319880 PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 19 19 q13.2 50041233 50084325 + 45349393 45392485 + 1580863;6480464;6767565;6767558;6484658;6484113 17376543;16738668;22159054 21383766;9845526;12913096;12915581;15039383;16831868;10225955;18823527;17696193;17534374;17081983;16740910;16344560;16313259;16304049;16189514;15607800;15536144;15489334;15465608;15146197;12477932;12438620;12011057;11984219;11602758;9657005;10733589;10729168;10627537;10520737;10196354;9683266;7622062;10617658;16169070;20572854;20628086;20634891;20672350;20662561;20410314;20885792;20617580;11544254;15811349;19011627;19478445;19815499;19913121;22927415;23465821;21139048;21900206;21906983;21909109;22005931;21982860;21988832;23192594;23326517;23419831;23565137 5819 K7EK87;K7EKE8;K7ERL3;Q92692 ABBA01040890;AC011481;AC093232;AF044962;AF044963;AF044964;AF044965;AF044966;AF044967;AF044968;AF050154;AF058448;AJ708439;AK291330;AMYH01009844;AY331689;AY331691;AY331694;BC003091;BQ549399;CH471126;CN359643;CN410857;CR456818;DA198252;NG_029149;NM_001042724;NM_002856;X80038 AAC23797;AAC82347;AAC82348;AAD02503;AAH03091;AAQ19176;AAQ19177;AAQ19178;ABM82755;ABM85941;BAF84019;CAA56342;CAG33099;EAW57298;EAW57299;NP_001036189;NP_002847;Q92692 Hs.655455 1648272;1678449;1690029;1777993 A006Y34;D19S1088;RH41685;RH94344 CD112;HVEB;PRR2;PVRR2 herpes virus entry mediator B;herpesvirus entry mediator B;herpesvirus entry protein B;nectin 2;nectin-2;poliovirus receptor related 2;poliovirus receptor-like 2;poliovirus receptor-related protein 2 APPROVED protein-coding ENSG00000130202 9707 02879 600798 REVIEWED 1350722 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009] 11 11 q23.3 119014018 119104645 - 119508808 119599435 - 1599795;1580863;6480464;7240710 10932188 12438620;9616127;12885915;10225955;19457990;19408722;18983929;18978678;18803666;18451037;18356023;18076965;17164781;17089422;17005657;16674562;16497481;16335952;16247549;16122939;15857834;15731277;15489334;15146195;15110526;14702039;12915568;12515806;12477932;12072519;12011057;11756979;11559849;11356977;10617658;9861033;9811737;9758630;8889548;7721102;1776626;20543867;20572854;20634891;20672350;20501653;11544254;12764381;16679515;19715471;20379614;9696799;9845526;21980294;22455396;21139048;21906983;22171266;22955284;18358807 5818 Q15223;Q8WXR3 ABBA01039665;ABBA01039666;AF060231;AF110314;AF196774;AF252867;AF373875;AF373876;AI819997;AK056455;AK091231;AK095375;AMYH01004087;AP003390;AP003393;AY029539;AY445578;AY445579;AY445581;BC007379;BC021976;BC044230;BC064140;BC086309;BC104948;BC113471;BQ188335;CH471065;NG_013083;NM_002855;NM_203285;NM_203286;X76400 AAC23798;AAD04944;AAG16648;AAG16649;AAI04949;AAI13472;AAK33124;AAL47715;AAL47716;AAR88250;AAR88251;AAR88252;ADR83051;CAA53980;EAW67492;EAW67493;EAW67494;NP_002846;NP_976030;NP_976031;Q15223 Hs.334846 1664118;1737185;1755961;1764707;1849230;2219580 A001W33;D11S3049;D11S4421;PVRL1__5616;SHGC-142781;SHGC-148300 CD111;CLPED1;ED4;HIgR;HVEC;MGC142031;MGC16207;OFC7;PRR;PRR1;PVRR;PVRR1;SK-12;nectin-1 OTTHUMP00000232093;OTTHUMP00000232094;OTTHUMP00000232095;ectodermal dysplasia 4 (Margarita Island type);herpes virus entry mediator C;herpesvirus Ig-like receptor;nectin 1;poliovirus receptor-like 1;poliovirus receptor-related protein 1 APPROVED protein-coding ENSG00000110400 9706 07200 225060;600644 REVIEWED 1348372 PVT1 Pvt1 oncogene (non-protein coding) 8 8 q24 128875961 129182681 + 128902874 129113499 + 6480464 21526116;22110125;17908964;17881614;17503467;17395743;16341674;14702039;12477932;3024964;2725491;2470097;2181290;19270707;19549893;20694011;21037568;21316338;22869583;23801869;21814516;21833088 5820 ABBA01037952;ABBA01037953;ABBA01037954;ABBA01037955;AC026248;AC084123;AC103705;AC103819;AK128687;AK129745;AMYH01019015;BC033263;BC041065;BM821521;BX648921;D79458;M25803;M26714;M31519;M34428;M34429;M34430;M34431;NR_003367;X04620 Hs.133107;Hs.675281 1338602;1645919;1674414;1710162;1759473;1760641;1772938;1777654;1783524;1855362;2148637;2158496;5015404;5015605 AFMB299YE9;D11S2977;D8S1087;D8S1720;G17834;G31084;L17705;RH68431;SGC34443;SHGC-144185;SHGC-151203;SHGC-152351;SHGC-82342;STS-T95511 LINC00079;MGC21751;NCRNA00079 miscrna ENSG00000249859 9709 165140 VALIDATED 5129392 PWWP2AP1 PWWP domain containing 2A pseudogene 1 13 13 13 q31.1 62130657 62132904 + 80124620 80129138 + 81228890 81231137 + 100129459 ABBA01021706;AL390857;AMYH01005236;NG_011459 FLJ31359 pseudo 39709 INFERRED 1319897 PVRL3 poliovirus receptor-related 3 This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 3 3 q13 112273555 112335752 + 110790606 110913017 + 1580863;6480464 12438620;16216929;15489334;12759359;12515806;12477932;12011057;11024295;10744716;19913121;20628086;20634891;10225955;11544254;19011627;9845526;18084611;20633763;20876797;21769484;21139048;21906983;22926846;21982860 25945 C9IZE6;C9J795;C9JMW3;H7C4L0;H7C5G5;Q9NQS3 AA555086;ABBA01061673;ABBA01061674;ABBA01061675;AC133436;AC133477;AC137833;AF282874;AK075105;AL050071;AMYH01013389;BC001336;BC017572;BC067808;BI464010;BQ025085;CH471052;JA738803;NG_029835;NM_001243286;NM_001243288;NM_015480 AAF97597;AAH01336;AAH17572;AAH67808;BAC11404;CAB43256;CCF77054;EAW79703;NP_001230215;NP_001230217;NP_056295;Q9NQS3 Hs.293917 1338834;1644908;1646005;1660616;1677064;1689105;1745995;2132575;2142274;2152151;2219582 D16S3395;D3S3921;D7S1804;PVRL3__5617;RH12011;RH125725;RH47398;RH93019;RH94030;SHGC-77178;STS-R78584 CD113;CDw113;DKFZp566B0846;FLJ90624;NECTIN-3;PPR3;PRR3;PVRR3 OTTHUMP00000214485;OTTHUMP00000214486;OTTHUMP00000214492;nectin 3;poliovirus receptor-related protein 3 APPROVED protein-coding 17664 08454 607147 REVIEWED 1605095 PWP1 PWP1 homolog (S. cerevisiae) 12 12 12 q23.3 107745148 107771815 + 106603720 106630387 + 108079590 108106257 + 6480464 7828893;17081983;16565220;15761153;15302935;12477932;11850830;11790298;8895530;8125298;21145461;20028516;20211142;21832049;22586326;17079684;21628590;12777385;21139048;21906983;19295130 11137 B4DJV5;F8VZ56;Q13610;Q7Z3X9 ABBA01053150;ABBA01053151;AC007622;AK223162;AK290681;AK296252;AK297961;AMYH01004726;BC000067;BC001652;BC010921;BC032127;BC040135;BC046144;CH471054;L07758;NM_007062;Z36804;Z36805 AAA65201;AAH00067;AAH01652;AAH10921;AAH32127;AAH40135;AAH46144;ABM83661;ABM86908;ABM87013;BAD96882;BAF83370;BAG58967;BAG60273;EAW97802;EAW97803;NP_008993;Q13610 Hs.506652 1736218;1848462;1855714;2142607 D12S1163E;SHGC-57379;STS-L07758;WI-7102 IEF-SSP-9502 OTTHUMP00000242457;OTTHUMP00000242460;OTTHUMP00000242461;endonuclein;keratinocyte protein IEF SSP 9502;nuclear phosphoprotein similar to S. cerevisiae PWP1;periodic tryptophan protein 1 homolog protein-coding ENSG00000136045 17015 11464 PROVISIONAL 2303844 PWRN1 Prader-Willi region non-protein coding RNA 1 This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009] 15 15 15 q11.2 2963214 2992602 + 24803304 24832927 + 24803304 24832927 + 17337158;12477932;19471314;20301505 791114 ABBA01048688;AC139147;AC139362;AMYH01006482;BC034815;NG_016177;NR_026646 Hs.720900 FLJ25418;NCRNA00198 APPROVED miscrna ENSG00000259905 33235 611215 REVIEWED 2303843 PWRN2 Prader-Willi region non-protein coding RNA 2 15 15 15 q11.2 2570102 2575229 - 24409926 24415053 - 24409926 24415053 - 17337158;12477932 791115 ABBA01048684;AC087474;AK124131;AMYH01006480;BC032951;BC070120;NR_026647 Hs.560378;Hs.742600 5127777 SHGC-147200 FLJ42137;NCRNA00199 miscrna 33236 611217 PROVISIONAL 1342516 PXE pseudoxanthoma elasticum 7240710 4841083;10585762 5823 9712 177850;264800;614473 1317740 PWP2 PWP2 periodic tryptophan protein homolog (yeast) 21 21 21 q22.3 30632847 30656721 + 44351636 44375491 + 45527208 45551063 + 1580863;6480464;6907045 21252943;8661145;8893822;15489334;12477932;12429849;10830953;9205129;21145461;9196060;8973917;8889548;16169070;18029348;16341674;19615732;22939629;22586326;21139048;21890473;21906983;22178446;21907836;22053931 5822 C9J544;Q15269 AB001517;AB001523;AB209438;ABBA01074152;AI968015;AK314184;AMYH01012287;AP001753;BC013309;BC014988;BM457858;BM835826;BU683943;BX387451;BX452317;CH471079;NM_005049;U53346;U56085;U56089;X95263;X96424;X96425 AAB08084;AAC50904;AAC50905;AAH13309;AAH14988;BAA21100;BAA21137;BAA95553;BAD92675;BAG36865;CAA64560;CAA65284;CAA65285;EAX09458;NP_005040;Q15269 Hs.449076 1667187;1793948;2167898;2219584 PMC310701P1;PWP2H__5620;RH66476;RH70689 EHOC-17;PWP2H;UTP1 OTTHUMP00000109488;periodic tryptophan protein 2 homolog protein-coding ENSG00000241945 9711 03279 601475 VALIDATED 1642916 PWWP2A PWWP domain containing 2A 5 5 5 q33.3 155534450 155578003 - 159435467 159479030 - 159502889 159546452 - 6480464 14702039;12477932;11572484 114825 G5EA07;H0YB44;H0YC06;H0YC08;Q96N64 AB067522;ABBA01044229;ABBA01044230;ABBA01044231;AC008706;AF173385;AI972512;AK055921;AMYH01015759;AV720552;BC018680;BC035076;BC039106;BC105110;BC143437;BI548991;CH471062;DB450981;NM_001130864;NM_001267035;NM_052927 AAH35076;AAI05111;AAQ13626;BAB67828;BAB71045;EAW61567;EAW61568;EAW61569;NP_001124336;NP_001253964;NP_443159;Q96N64 Hs.438851 1655586;1674023;1699478;1781018;2170556;2183784;5093148 A009H27;G32548;RH103331;RH44794;RH45035;RH78084;bac5774S KIAA1935;MGC132770;MST101 MSTP101;OTTHUMP00000224235;OTTHUMP00000224237;OTTHUMP00000224238;PWWP domain-containing protein 2A protein-coding ENSG00000170234 29406 VALIDATED 1322692 PXDC1 PX domain containing 1 6 6 6 p25.2 4951717 4981144 - 3667852 3696935 - 3722836 3752246 - 6480464 16344560;12477932;19322201 221749 H0Y3G1;Q5TGL8 ABBA01048610;ABBA01048611;AJ420534;AK024828;AK289598;AL033523;AL391422;AL832792;AMYH01016037;BC045715;BC056908;BG703675;CH471087;CK725197;DA164068;DB481678;NM_183373 AAH45715;AAH56908;BAF82287;CAI46167;EAW55141;NP_899229;Q5TGL8 Hs.484500 1668677;1718299;1740181;1762443;2149891;2182321 D4S2904;D6S1196E;RH122921;RH18375;RH48246;SHGC-146266 C6orf145 OTTHUMP00000015968;OTTHUMP00000015969;PX domain-containing protein 1;PX domain-containing protein C6orf145 APPROVED protein-coding ENSG00000168994 21361 12854 VALIDATED 1316105 PWWP2B PWWP domain containing 2B 10 10 10 q26.3 128008481 128021704 - 134060692 134081353 + 134210702 134231363 + 6480464 15489334;15302935;15164054;14702039;12477932;22797925 170394 H9KV61;Q6NUJ5 ABBA01006183;AF318365;AK096940;AK128663;AL590105;AMYH01003207;AW166547;BC011630;BC068574;BG260395;CH471287;DB477789;NM_001098637;NM_138499 AAH11630;AAH68574;AAL55872;EAW49120;NP_001092107;NP_612508;Q6NUJ5 Hs.527751 1689280;1701012;1758241 RH104133;RH92607;SHGC-147770 FLJ39621;FLJ46823;PWWP2;RP11-273H7.1;bA432J24.1;pp8607 OTTHUMP00000020770;PWWP domain containing 2;PWWP domain-containing protein 2B protein-coding ENSG00000171813 25150 11465 VALIDATED 6766637 PXN-AS1 PXN antisense RNA 1 12 120639094 120650631 + 100506649 ABBA01020098;ABBA01020099;ABBA01020100;AC004263;AI767458;AMYH01004798;CV808970;NR_038924 Hs.569205 1688476;1778418;2116473;2146608;2156931 A001T32;A007I44;RH36430;RH78308;STS-AA002185 EyeLinc4 APPROVED miscrna ENSG00000255857 44123 VALIDATED 1607083 PXDN peroxidasin homolog (Drosophila) Drosophila peroxidasin is an extracellular matrix-associated peroxidase (Horikoshi et al., 1999 [PubMed 10441517]). It is expressed exclusively in hemocytes derived from head mesoderm at a very early stage of differentiation. Peroxidasin exists as a homotrimer with a unique hybrid structure that combines an enzymatically functional peroxidase domain with motifs that are typically found in extracellular matrix-associated proteins. It is a secreted protein that contains a secretory recognition sequence at its N terminus. Peroxidasin catalyzes hydrogen peroxide-driven radioiodination, oxidations, and the formation of dityrosine in vitro. It is also thought to function in extracellular matrix consolidation, phagocytosis, and defense.[supplied by OMIM, Jul 2009] 2 2 2 p25 1683129 1795627 - 1614666 1727298 - 1635659 1748291 - 6480464 15146197;11103812;16344560;14702039;12477932;10441517;9039502;7959781;12023963;18929642;19590037;19724895;19851296;20198315;20379614;20800603;21798344;21820048;21907015;22526679;22157634;21988832;22982576;22268729 7837 C9J4I9;H7C1W1;H7C300;H7C3W2;Q92626 ABBA01003650;ABBA01003651;ABBA01012332;ABBA01012333;ABBA01012334;ABBA01012335;ABBA01012336;ABBA01012337;ABBA01012338;AC009471;AF200348;AK098167;AMYH01010062;AMYH01010063;BC009496;BC030834;BC041027;BC070119;BC098579;CH471053;CN359024;CN359026;D86983;DA866300;EF090903;NM_012293 AAF06354;AAH09496;AAH98579;AAI40296;ABO25865;BAA13219;EAX01084;EAX01085;NP_036425;Q92626 Hs.332197 1655046;1655048;1686002;1695034;1848833;2107989;2139503;2153843;2162737;2170261 A006H28;D2S448_8764;G20812;G44731;RH16626;RH25436;RH46363;RH70454;RH91469;STS-W70089 D2S448;D2S448E;KIAA0230;MG50;PRG2;PXN;VPO OTTHUMP00000199942;OTTHUMP00000199943;melanoma-associated antigen MG50;p53-responsive gene 2 protein;peroxidasin homolog;vascular peroxidase 1 APPROVED protein-coding ENSG00000130508 14966 605158 VALIDATED 1606718 PXDNL peroxidasin homolog (Drosophila)-like 8 8 8 q11.22-q11.23 48220418 48712670 - 52394690 52884558 - 52232137 52722005 - 16421571;16344560;14702039;12477932;20800603;18929642;20237496;20379614;22543864;21139048;21145461 137902 A1KZ92;H0YAV0;K4DIA6 ABBA01041688;ABBA01041689;ABBA01041690;ABBA01041691;ABBA01041692;AC011128;AC012413;AC090186;AC103958;AC107374;AI127081;AK058200;AK131524;AMYH01018709;AMYH01018710;AMYH01018711;AMYH01018712;AMYH01018713;AMYH01018714;AY877349;BC132813;CH471068;DB337228;EU170240;NM_144651 A1KZ92;AAX70929;ABX24517;BAB71713;BAD18663;EAW86707;EAW86708;NP_653252 Hs.444882 1340504;1341936;1654195;1707118;1717833;1733574;1751499;1765813;1768439;1786752;2138271;2154415;2178580;5112217;7185143 D8S1097;D8S1622;D8S1773;D8S517;G32126;G32150;RH102382;RH121828;RH36241;RH69838;SHGC-105297;SHGC-149241;SHGC-155384;SHGC-81322 FLJ25471;PMR1;PRM1;VPO2 OTTHUMP00000226248;cardiac peroxidase;cardiovascular peroxidase 2;peroxidasin homolog-like;peroxidasin-like protein;polysomal ribonuclease 1;polysomal ribonuclease 1 homolog;vascular peroxidase 2 protein-coding ENSG00000147485 26359 08693 VALIDATED 1347054 PXMP2 peroxisomal membrane protein 2, 22kDa 12 12 12 q24.33 132966844 132981555 + 131774265 131791650 + 133264192 133281577 + 1580863;6480464 18174172;16683188;12477932;11590176;10704444;8624723;21139048 5827 B4DX64;F5GXM0;F5GZF7;F5H4N4;Q9NR77 ABBA01012375;ABBA01012376;AC135586;AF250136;AMYH01004921;AY044439;BC009836;BC073997;CH471218;NM_018663 AAF73963;AAH09836;AAH73997;AAK95858;EAW54828;EAW54829;NP_061133;Q9NR77 Hs.430299 1698852 RH102991 FLJ54922;PMP22 22 kDa peroxisomal membrane protein;OTTHUMP00000237607;peroxisomal membrane protein 2 protein-coding ENSG00000176894 9716 10176 PROVISIONAL 1349206 PXT1 peroxisomal, testis specific 1 6 6 6 p21.31 37913002 37965730 - 36466306 36476289 - 36358328 36410666 - 6480464 18160785;12477932;20068295 222659 J3KR74;Q8NFP0 ABBA01038257;AF486827;AL133263;AL136135;AMYH01016272;BC031105;BC107049;CH471081;NM_152990;Z84484 AAH31105;AAI07050;AAN03789;EAX03891;NP_694535;Q8NFP0 Hs.520097 1659097;2219586 AL031215;PXT1__5622 MGC129569;STEPP OTTHUMP00000216603;OTTHUMP00000216611;peroxisomal testis-specific protein 1;small testis-specific peroxisomal protein protein-coding ENSG00000179165 18312 17937 VALIDATED 1348847 PXMP4 peroxisomal membrane protein 4, 24kDa 20 20 20 q11.22 29043230 29060852 - 31754211 31771797 - 32290550 32308136 - 1580863;6480464 10366717;15489334;14709540;14702039;12477932;11780052;11230166;10704444;11256614;17207965;21890473 11264 B4DWH1;Q9Y6I8 ABBA01019221;ABBA01019222;ABBA01019223;AF072864;AI985147;AK023879;AK128879;AK297018;AK301532;AK316589;AL050349;AL121906;AL136648;AMYH01011858;AMYH01011859;BC001147;BQ278083;CH471077;CR533471;DB495125;NM_007238;NM_183397 AAD43195;AAH01147;ACE86857;ACE87544;ADQ33215;BAG38177;BAG51232;BAG59550;BAG63033;CAB66583;CAG38502;EAW76298;NP_009169;NP_899634;Q9Y6I8 Hs.654857 1690033;2123318;2169629;2217880;5016478;5016596;5037552;5117897 A004T22;D8S2279;GDB:434012;GDB:631802;GDB:631813;PXMP4_3545;RH76543;STS-R36871 PMP24 24 kDa peroxisomal intrinsic membrane protein;OTTHUMP00000030669;OTTHUMP00000175038;OTTHUMP00000205443;peroxisomal membrane protein 4 protein-coding 15920 10177 VALIDATED 1348394 PXK PX domain containing serine/threonine kinase PXK binds to the Na,K-ATPase beta-1 (ATP1B1; MIM 182330) and beta-3 (ATP1B3; MIM 601867) subunits and modulates both Na,K-ATPase enzymatic and ion pump activities (Mao et al., 2005 [PubMed 16135750]).[supplied by OMIM, Mar 2008] 3 3 3 p14.3 58333171 58424771 + 58293657 58385918 + 58318617 58410878 + 6480464 14702039;12477932;21243490;16142408;18204446;16135750;19225526;15489334;18029348;20829310;20848568;20881011;20962850;20086096;20379614;20453842;22592861;21890473 54899 C9IYJ2;E9PD56;F8WAW8;F8WDF7;H7BYG4;H7C4V0;H7C4W2;H7C529;Q6ZN39 AB209688;ABBA01024385;ABBA01024386;ABBA01024387;ABBA01024388;ABBA01024389;AC098479;AC135507;AF399753;AK000342;AK131385;AK295542;AK296034;AK296215;AMYH01013229;AY274811;AY437879;AY847220;AY847221;AY847222;BC008943;BC014479;BC108670;CH471055;DQ124707;DQ124708;NM_017771 AAH08943;AAH14479;AAI08671;AAK94455;AAP42076;AAR98521;AAX73352;AAX73353;AAX73354;AAZ38821;AAZ38822;BAA91097;BAD18536;BAD92925;BAG58451;BAG58800;BAG58940;EAW65368;EAW65369;EAW65370;NP_060241;Q7Z7A4 Hs.190544 1645399;1700456;1706068;1720171;1725211;1735266;1767216;1852428;2111045;2163042;5092844 1178;A006J39;D3S1495E;D3S2922E;D3S3324;G32365;RH103849;RH118898;RH123996;SHGC-77030;SHGC-80069 FLJ20335;MONaKA OTTHUMP00000214170;OTTHUMP00000214171;OTTHUMP00000214173;OTTHUMP00000214175;OTTHUMP00000214179;PX domain-containing protein kinase-like protein;PX ser/thr kinase v2;PX serine/threonine kinase;modulator of Na,K-ATPase long form APPROVED protein-coding ENSG00000168297 23326 17936 611450 PROVISIONAL 1313984 PXN paxillin This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011] 12 12 q24.31 119132640 119187892 - 120648242 120703574 - 1580863;2300344;6480464;6484113;6907045 16493410 10604475;10330411;9785458;9621077;12149250;11919182;11514617;10753828;10455189;9756887;9442086;9422762;8922390;11304546;12153727;12629171;11950600;8641358;10085298;8609175;10625692;10400685;9497381;11857088;10804218;7529872;11035932;11704675;11577104;8810278;9590268;11278335;10675325;12006652;12118253;10080957;9488700;11683411;11533025;10082579;11036077;9099734;12198159;11251077;14688263;9054445;10840040;12686598;7534286;15574420;19401330;19358827;19353596;19151925;19082453;18986306;18940607;18818208;18813807;18713649;18676874;18664639;18632638;18508764;18449907;18380937;18327407;18172305;18078823;18045996;17574549;17513457;17462669;17298394;17233630;17187346;17081983;16964243;16552730;16541075;16365170;16344560;16341674;16212439;16212419;16094384;16040804;15951569;15870699;15817476;15770719;15652490;15652337;15592455;15252114;15242880;15191880;15175910;15155793;14970194;14702039;14699151;12861019;12853963;12837751;12794117;12477932;11928806;11820787;11779709;11774284;11759057;11477105;11181995;10938112;10749932;11463817;10092539;7493940;12639940;10417825;15023529;14523024;10896954;11598204;11694518;11113628;11096073;9603926;10655584;8986614;12033289;7657702;7525621;11805099;12234367;11134073;15719014;15793570;20525696;20369478;20395438;20628053;21043826;11337490;11695992;11784715;11825902;12941817;14585963;14627618;14636584;15107421;16537926;16628223;16936772;17082770;17449030;19167335;19481075;19492042;19615356;19642098;19817696;19917054;20097761;20127017;20133777;20210243;8978305;9230116;9658172;9759889;20136697;21042764;21084488;21270398;10925297;21270128;21148292;21614903;21617717;21632544;21763488;22893698;21486952;22863883;22939629;21703394;21757638;21900245;16636290;19738201;21988832;23000965;23209815;21139048;21906983;22203672;22094095;21940355;22075845;22095445;22293201;22194823;22684108;16600665;22728435;22833565;23076140;23275153;17868650;22017400;22362758;22700880;22869380;22959909;23209645;22761432 5829 E7EMK8;F5GZ78;F5H836;F8VZ39;F8W0G0;F8W0K8;F8W1E0;H0YIE4;P49023 AA922640;AB209034;ABBA01020100;ABBA01020101;AC004263;AK026695;AK122964;AK128712;AK298057;AK299486;AK314204;AMYH01004798;BC003647;BC006840;BC010498;BC015217;BC052611;BC136787;BC136794;BC144410;BM742662;BU500419;BX648777;CH471054;D86862;D86863;DA105135;DA565031;DB472926;NG_029820;NM_001080855;NM_001243756;NM_002859;NM_025157;U14588;U87946 AAC05175;AAC50104;AAD00648;AAH03647;AAH52611;AAI36788;AAI36795;AAI44411;BAA18997;BAA18998;BAB15529;BAC87586;BAD92271;BAG36880;BAG53822;BAG60351;BAG61448;CAI46024;EAW98175;EAW98176;EAW98177;EAW98178;EAW98179;NP_001074324;NP_001230685;NP_002850;NP_079433;P49023 Hs.446336 1338015;1688476;1746559;1778418;2146608;2156931;5015961;5022322 A001T32;D11S2560;D12S1721;D15S1477;G64568;RH36430;RH78308;STS-AA002185 FLJ16691 OTTHUMP00000240291;OTTHUMP00000240317;OTTHUMP00000240326;OTTHUMP00000240327;paxillin APPROVED protein-coding ENSG00000089159 9718 602505 REVIEWED 2299013 PYDC2 pyrin domain containing 2 3 3 3 q28 189607703 189607996 + 192661646 192661939 + 191178952 191179245 + 17339483;17178784;21362197 152138 Q56P42 ABBA01058317;AC073365;AMYH01013762;AY858112;NM_001083308 AAX54598;NP_001076777;Q56P42 Hs.690618 POP2;cPOP2 OTTHUMP00000225036;pyrin domain-containing protein 2;pyrin-only protein 2 protein-coding ENSG00000253548 33512 PROVISIONAL 1352184 PYGBL phosphorylase, glycogen, brain-like 3346228 5835 9724 1320768 PYCR2 pyrroline-5-carboxylate reductase family, member 2 This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 1 1 1 q42.12 199298629 199303014 - 224174203 224178588 - 226107580 226111965 - 737633;6480464;6907045 12477932 16713569;16710414;15489334;15231748;14702039;17207965;20811636;21832049;22990118;20186120;21145461;18457437;22118674;21139048;21890473;17725712;23024808 29920 Q96C36 ABBA01009662;AF087859;AF151351;AK001508;AK291913;AL117348;AL834217;AMYH01001774;AW166558;BC014868;BC020553;BU538765;CH471098;HY044355;HY264354;NM_001271681;NM_013328 AAD34611;AAH14868;AAH20553;AAP97169;ADQ32281;BAF84602;BAG50929;CAD38899;EAW69761;EAW69762;EAW69763;EAW69764;EAW69765;NP_001258610;NP_037460;Q96C36 Hs.654718 1847373;1857053;2143014;2177657;5121718 164;D1S268E;RH64582;SHGC-35104;WI-20783 FLJ54750;P5CR2 OTTHUMP00000035614;P5C reductase 2;P5CR 2;pyrroline 5-carboxylate reductase isoform;pyrroline-5-carboxylate reductase 2 protein-coding ENSG00000143811 30262 17939 REVIEWED 1602723 PYCARD PYD and CARD domain containing This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p11.2 31120308 31121752 - 31212807 31214097 - 5490211;5490210;6480464;6907045 20303873;19302047 15030775;12019269;10567338;12656673;19324871;19234215;19223547;19201894;18945969;18791131;18701507;18348116;18311798;18263805;17986858;17964261;17599361;17048097;16964285;16848908;16777061;16715133;16425203;16189514;16037825;15701651;15641782;15489334;15456791;15041718;15020601;14985395;14730312;14702039;14643031;14634131;14499617;12949795;12800194;12776200;12646168;12615073;12553049;12486103;12477932;12191486;12054656;11967258;11786556;11733524;11498534;11374873;11250163;11103777;11103776;10847592;16982856;19494289;16585594;17178784;17339483;17418785;19443857;19636848;19661336;19759015;19759850;20020448;20500518;20808838;20148899;21036703;20140741;21487011;20926535;23090995;21058222;21104989;21270336;19158679;23066025;23110696;21832064;22230750;21890473;19158675;19158676;22295065;22286270;22934972;23064206;22931929;19258216;22732093 29108 H3BP42;Q9ULZ3 AB023416;ABBA01042085;AC009088;AF184072;AF184073;AF255794;AF310103;AF384665;AK000211;AK314422;AMYH01007504;BC004470;BC013569;CH471192;NG_029446;NM_013258;NM_145182 AAF99665;AAG01187;AAG01188;AAG30286;AAH04470;AAH13569;AAK63850;ADZ15787;BAA87339;BAA91012;BAG37041;EAW52148;EAW52149;NP_037390;NP_660183;Q9ULZ3 Hs.499094 1752153;2217036 ASC_2735;SHGC-106097 ASC;CARD5;MGC10332;TMS;TMS-1;TMS1 OTTHUMP00000163239;OTTHUMP00000163240;PYD and CARD domain-containing protein;apoptosis-associated speck-like protein containing a CARD;caspase recruitment domain protein 5;caspase recruitment domain-containing protein 5;hASC;target of methylation-induced silencing 1;target of methylation-induced silencing-1 APPROVED protein-coding ENSG00000103490 16608 06020 606838 REVIEWED 1346093 PYGO1 pygopus homolog 1 (Drosophila) 15 15 15 q21.1 32726797 32769567 - 53625513 53668342 - 55838221 55881050 - 1580863;6480464 18498752;14612447;11988739;11955446;20936779;20403915 26108 A7Y2D6;Q9Y3Y4 ABBA01039020;ABBA01039021;AC012378;AC022083;AF457207;AL049925;AMYH01006671;AMYH01006672;CH471082;CQ897768;EF625686;NM_015617 AAI41425;AAI46573;AAL91370;ABU93489;CAB43209;CAH69779;EAW77492;NP_056432;Q9Y3Y4 Hs.256587 DKFZp547G0910 OTTHUMP00000162854;pygopus 1;pygopus homolog 1;pygopus-like protein 1 protein-coding 30256 06064 606902 PROVISIONAL 1317303 PYCR1 pyrroline-5-carboxylate reductase 1 This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 17 17 q25.3 77483558 77488259 - 79890267 79894968 - 1580863;6480464;6907045;7240710 1730675;19576563;16730026;15489334;12477932;8880459;8125298;6894153;6253048;6201483;2722838;212173;21145461;19648921;17207965;21204221;23106098;21487760;21567914;22990118;22052856;21963094;21988832;22323290;22623428;21139048;21693764;21900206;21906983 5831 B4DMU0;E2QRB3;J3KQ22;J3KSA9;J3KTA8;J3QKT3;J3QKT4;J3QL23;J3QL24;J3QL32;J3QLK9;J3QR88;J3QRZ0;P32322 ABBA01019654;AC145207;AF218000;AK225879;AK297627;AMYH01008724;AY513285;BC001504;BC022244;BC071842;CH471099;CR541769;HQ154643;HQ154644;M77836;NG_023032;NM_006907;NM_153824 AAA36407;AAG17242;AAH01504;AAH22244;AAH71842;AAT08038;ADQ32305;ADU15815;ADU15816;ADZ15790;BAG60002;CAG46568;EAW89717;EAW89718;EAW89719;EAW89720;EAW89721;EAW89722;EAW89723;EAW89724;EAW89725;EAW89726;NP_008838;NP_722546;P32322 Hs.163451 2116301;2185079 D17S2144;RH78412 ARCL2B;ARCL3B;P5C;P5CR;PIG45;PP222;PRO3;PYCR P5C reductase 1;P5CR 1;mitochondrial pyrroline-5-carboxylate reductase 1;proliferation-inducing protein 45;pyrroline-5-carboxylate reductase 1, mitochondrial APPROVED protein-coding ENSG00000183010 9721 01528 179035;612940;614438 REVIEWED 1605835 PYDC1 PYD (pyrin domain) containing 1 16 16 16 p11.2 29069630 29070745 + 31134784 31135899 - 31227283 31228398 - 6480464;6907045 12656673;16905547;16403450;15489334;12477932;11166558;20516061;12153040 260434 Q8WXC3 ABBA01042085;AC009088;AF086332;AF454669;AF467809;AK313418;AMYH01007504;AY163727;BC105033;BC105035;CH471192;NM_152901 AAI05034;AAI05036;AAL58439;AAN03745;AAO23114;BAG36211;EAW52147;NP_690865;Q8WXC3 Hs.58314 1700724 RH103987 ASC2;POP1;PYC1 OTTHUMP00000163243;PAAD-only protein 1;pyrin domain containing 1;pyrin domain-containing protein 1;pyrin-domain containing protein 1;pyrin-only protein 1 protein-coding 30261 17938 PROVISIONAL 1319273 PYCRL pyrroline-5-carboxylate reductase-like 8 8 8 q24.3 140996326 141002023 - 144757532 144762887 - 144686083 144691784 - 1580863;6480464;6907045 14702039;12477932;11591653;8125298;21145461;19615732;17207965;16344560;22863883;21139048;21906983 65263 B5MD87;F8WEI0;H0Y6C3;Q53H96 ABBA01005246;AC067930;AF086378;AK001500;AK023914;AK222685;AK225404;AK294615;AK295444;AK301225;AL833857;AMYH01019111;BC007993;CH471162;DA403767;DA629534;NM_023078 AAH07993;ADQ31885;BAB14721;BAD96405;BAG50927;BAG57798;BAG58383;BAG62798;CAD38716;EAW82223;EAW82224;EAW82225;NP_075566;Q53H96 Hs.165186 5037552 D8S2279 FLJ13852 OTTHUMP00000211292;OTTHUMP00000211293;P5C reductase 3;P5CR 3;pyrroline-5-carboxylate reductase 3;pyrroline-5-carboxylate reductase-like protein protein-coding ENSG00000104524 25846 15196 VALIDATED 736182 PYGB phosphorylase, glycogen; brain The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008] 20 20 p11.21 25176706 25226648 + 25228706 25278648 + 1580863;1642822;2304109;6480464;6907045 11340058;1544539 3346228;10638593;17393985;17081983;15489334;12665801;12477932;12211109;11780052;9792273;8244401;7775103;3447179;2615594;21145461;20471030;20800603;17148452;19204726;19851296;20198315;20482380;16335966;22863883;22939629;22586326;21139048;21890473;21906983;21987572;22001757;22838188;19805454;21963094;22818785;23000965;21853274;22505724 5834 H0Y4Z6;P11216 AB209080;ABBA01048729;ABBA01048730;ABBA01048731;AF432222;AK299697;AK309036;AL121772;AMYH01011788;BC017045;BC030795;BQ433140;CH471133;J03544;NM_002862;U47025 AAA59597;AAB60395;AAH17045;AAH30795;AAL99928;ABM85600;ABW03734;BAD92317;BAG61600;EAX10091;EAX10092;EAX10093;NP_002853;P11216 Hs.368157 1679680;1686390;1690926;1725729 D20S589E;G62120;RH39023;RH76548 GPBB;MGC9213 OTTHUMP00000030488;brain glycogen phosphorylase;glycogen phosphorylase B;glycogen phosphorylase, brain form APPROVED protein-coding ENSG00000100994 9723 00720 138550 REVIEWED 1606702 PYHIN1 pyrin and HIN domain family, member 1 The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 1 1 1 q23.1 131971636 132017127 + 157167966 157213468 + 158901337 158946849 + 6480464 18247378;16479015;16344560;15122330;12477932;20595294;20379614;21804549 149628 Q6K0P9 ABBA01016622;ABBA01016623;AK024890;AK308350;AL359753;AMYH01001443;AW518129;AY185344;AY185345;AY185346;AY185347;BC020822;BC073133;BC090944;BC114470;BC139741;DB126431;DB188734;NG_029756;NM_152501;NM_198928;NM_198929;NM_198930 AAH20822;AAH90944;AAI39742;AAO67506;AAO67507;AAO67508;AAO67509;NP_689714;NP_945146;NP_945147;NP_945148;Q6K0P9 Hs.710248;Hs.744588 2135005 G16240 IFIX;MGC23885;RP11-520H16.1 OTTHUMP00000035198;OTTHUMP00000035199;OTTHUMP00000035200;OTTHUMP00000035201;interferon-inducible protein X;pyrin and HIN domain-containing protein 1 APPROVED protein-coding ENSG00000163564 28894 09999 612677 REVIEWED 737329 PYGM phosphorylase, glycogen, muscle This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] 11 11 q12-q13.2 64270606 64284763 - 64513861 64528187 - 1599985;1599987;1599990;1599897;1599991;1599993;1580863;1642822;1642743;2304109;6480464;6907045;7240710 9633816;14618266;11804660;11692172;10498852;8769807;11340058;6449198;1544539 17353931;19472443;19251976;18808785;17994553;17915571;17719780;17630210;17404776;17324573;16786513;16671104;16523484;16154688;16083285;15979037;15489334;14702039;14662163;12804600;12640006;12477932;12398832;12031624;11749054;11706962;11168025;10899452;10714589;10681080;10590419;10417800;10382912;10382911;9506549;8535454;8316268;7958997;7744850;7603523;6797345;3840433;3466902;3447177;2703328;1701414;1150650;18468620;22608882;10949035;19433441;20301518;20957198;21658951;20360068;21906983;21890473;21963094;23000965;21802952;21880526;21768215;22337875;11983168;12549820 5837 P11217 ABBA01024147;AF066859;AJ572752;AK056607;AK057547;AK299376;AK299461;AK314474;AMYH01003711;AP001462;BC029305;BC126392;BC130514;BM987822;CH471076;M16013;M32598;NG_013018;NM_001164716;NM_005609;U94774;U94777;X03031 AAA36216;AAA60231;AAC17451;AAC52081;AAI26393;AAI30515;ADR83429;BAG37079;BAG51762;BAG61366;BAG61428;CAA26834;EAW74284;EAW74285;NP_001158188;NP_005600;P11217 Hs.154084 1689494;1742535;1800076;1802398;1803624;1803626;1807070;1808570;1809994;1815296;1824856;1825410;1826390;1827638;1833348;1837284;1837330;1842176;1843082;1845186;1970812;1970814;1970816;1970818;1970820;1970822;1970824;1970826;1970828;1970830;1970832;1970834;1970836;1970838;1970840;1970842;1970844;1970846;1970848;1970850;1970852;1970854;1970856;1970858;1970860;1970862;1970864;1970866;1970868;1970870;1970872;1970874;1970876;1970878;1970880;1970882;1970884;1970886;1970888;1970890;1970892;1970894;1970896;1970898;1970900;1970902;1970904;1970906;1970908;1970910;1970912;1970914;1970916;1970918;1970920;1970922;1970924;1970926;1970928;1970930;1970932;1970934;1970936;1970938;2151267;2177141;2214880;2214882;2214884;5118444 D11S3316;D11S4627;ECD00893;ECD02084;ECD02718;ECD02719;ECD04500;ECD05267;ECD05989;ECD08684;ECD13527;ECD13812;ECD14309;ECD14939;ECD17817;ECD19809;ECD19832;ECD22291;ECD22749;ECD23810;G33090;GDB:197858;REN56289;REN56290;REN56291;REN56292;REN56293;REN56294;REN56295;REN56296;REN56297;REN56298;REN56299;REN56300;REN56301;REN56302;REN56303;REN56304;REN56305;REN56306;REN56307;REN56308;REN56309;REN56310;REN56311;REN56312;REN56313;REN56314;REN56315;REN56316;REN56317;REN56318;REN56319;REN56320;REN56321;REN56322;REN56323;REN56324;REN56325;REN56326;REN56327;REN56328;REN56329;REN56330;REN56331;REN56332;REN56333;REN56334;REN56335;REN56336;REN56337;REN56338;REN56339;REN56340;REN56341;REN56342;REN56343;REN56344;REN56345;REN56346;REN56347;REN56348;REN56349;REN56350;REN56351;REN56352;RH93814;stSG635664;stSG635665;stSG635666 OTTHUMP00000069755;OTTHUMP00000069756;glycogen phosphorylase, muscle form;muscle glycogen phosphorylase;myophosphorylase;phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) APPROVED protein-coding ENSG00000068976 9726 01986 232600;608455 REVIEWED 1345281 PYY2 peptide YY, 2 (pseudogene) 17 17 17 q11 23415321 23416818 + 23577716 23579213 + 26553589 26555086 + 15855352;11825642;10756099;7831336 23615 Q9NRI6 ABBA01015062;AC061975;AF222904;AMYH01008277;CH471159;NR_003064 AAF73876;EAW51064;Q9NRI6 Hs.157195 2220638;5022869 PYY_s24;UniSTS:486951 APPROVED pseudo ENSG00000237575 9749 07589 606637 PROVISIONAL 1625819 PYY3 peptide YY, 3 (pseudogene) X X X p11.22 53989814 53990344 + 49807454 49807987 + 49920714 49921244 + 644059 Q5JQD4 ABBA01063325;AC235789;AL663118;AMYH01022326;NG_007615 APPROVED pseudo 31855 INFERRED 731803 PYGL phosphorylase, glycogen, liver This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011] 14 14 q21-q22 50441687 50480984 - 51371935 51411248 - 1582633;1599374;1601233;1580863;1300048;1642822;2304109;1642743;6480464;6907045;7240710 15138155;9536091;16125296;11340058;1544539;6449198 10949035;10980448;12204691;9529348;17705025;18029348;17081983;16344560;15489334;15223230;14684825;12477932;11093832;8125298;3509980;2883891;2877458;19615732;20379614;20800603;20301760;22863883;16196087;21963094;21988832;23000965;21139048;21890473;21903422;21906983;21987572;22586326;21853274;22053931;23007406 5836 E9PK47;E9PMM6;Q641R5 AA523002;ABBA01018146;ABBA01018147;AF046785;AF046798;AF066858;AK225904;AK300580;AK309333;AK313206;AL134906;AL358334;AMYH01005723;AY429567;BC009895;BC065011;BC082229;BC095850;BC110791;CH471078;DA287767;M14636;M36807;NG_012796;NM_001163940;NM_002863;Y15233 AAA35906;AAA52577;AAC17450;AAC18079;AAC23504;AAH09895;AAH65011;AAH82229;AAH95850;AAI10792;BAG36022;BAG62279;CAA75517;EAW65685;EAW65686;EAW65687;NP_001157412;NP_002854;P06737 Hs.282417 1666628;1689785;1762691;1764483;1772117;1772559;1848114;2109717;2133293;2135477;2177975;5122319;7185470 A008Q22;AF046786;D12S2025;D14S952;HUM000S289;PYGL_8579;RH44709;RH98538;SGC33612;SHGC-146483;SHGC-148088;WI-18152 GSD6 OTTHUMP00000233649;OTTHUMP00000233651;glycogen phosphorylase, liver form;liver glycogen phosphorylase;phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI) APPROVED protein-coding ENSG00000100504 9725 01987 232700;613741 REVIEWED 1343524 PYGO2 pygopus homolog 2 (Drosophila) 1 1 q21.3 153196126 153200882 - 154929502 154934258 - 1580863;6480464 15498874;17113272;18314487;17203217;16964243;16609037;22186018;15489334;15146197;14702039;14612447;12477932;11988739;11955446;20637214;20204459;19555349;20937768;22939629;20361361;22379092;23732668 90780 Q5T170;Q5T171;Q9BRQ0 ABBA01016724;AF289598;AF457208;AK090545;AK092389;AK095425;AL451085;AMYH01001420;BC006132;BC013725;BC032099;CH471121;CN260857;CQ897766;NM_138300 AAH06132;AAH13725;AAH32099;AAL55782;AAL91371;ABM84305;ABM86878;BAC03474;BAC03877;CAH69778;EAW53172;EAW53173;NP_612157;Q9BRQ0 Hs.533597 1651295;1680647;1847183;2110689;2171928 D7S2830;PYGO2_8120;RH70874;RH98253;STS-W05360 1190004M21Rik;FLJ33226 OTTHUMP00000035488;pygopus 2;pygopus homolog 2 protein-coding ENSG00000163348 30257 06065 606903 VALIDATED 1605346 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 12 12 12 p12.1 26745930 26779563 + 21481878 21514567 + 21590538 21624184 + 6480464 16344560;12477932;8889548;16189514;14702039;15252450;20379614;21832049;22939629;21890473;21906983 79912 B3KWN8;B4DEW4;B5MDP1;H0YGU0;Q8WU10 ABBA01067968;ABBA01067969;AC006559;AK025681;AK095813;AK125461;AK293820;AK307710;AL832441;AMYH01004319;BC021662;BM980368;CH471094;DB041552;DQ786312;NM_024854 AAH21662;BAB15214;BAG54200;BAG57225;CAH10632;EAW96428;EAW96429;EAW96430;EAW96431;EAW96432;EAW96433;NP_079130;Q8WU10 Hs.709545 1679958;1687750;1688036;1688182;1688831;1690712;1698616;1725595;1744925;2187302 G62019;GDB:581119;RH102863;RH39709;RH39888;RH65497;RH68343;RH79569;RH80431;RH93629 FLJ22028 OTTHUMP00000240138;OTTHUMP00000240140;pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 protein-coding 26162 07976 VALIDATED 1353326 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 10 10 10 q24.2 93879973 93911599 - 100133314 100164931 - 100143322 100174978 - 6480464 15489334;15164054;14702039;12477932;8125298;16385451;21900206;21931564;21988832;23251661;23281178 84795 Q8N2H3 ABBA01021778;AF461898;AK022259;AK074429;AK075265;AK123713;AK225637;AK295699;AL139243;AMYH01002983;BC006131;BC035712;BC050574;CH471066;DC361966;NM_032709 AAH06131;AAQ04812;ABM84344;ABM87786;BAC11507;BAG58547;EAW49884;EAW49885;NP_116098;Q8N2H3 Hs.238303 1337919;1678809;1679581;1758161;2150480;2162751;5014039;5015961;5022322 D11S2560;D15S1477;D21S1412;D22S1584;RH11263;RH47149;RH66641;RH92098;SHGC-147552 C10orf33;FLJ12197;FLJ23849;FP3420;MGC13047 OTTHUMP00000020249;pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 protein-coding ENSG00000119943 23517 12572 VALIDATED 6893022 PYURF PIGY upstream reading frame The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012] 4 q 89442129 89444952 - 14702039;15489334;16162815;8889548;9847074 100996939 Q96I23 ABBA01063554;AC083829;AK312082;AMYH01014386;BG706896;CB305903;CV812938;NM_032906 BAG35018;NP_116295;Q96I23 Hs.26136;Hs.743393 2132314 SHGC-59828 PREY PIGY upstream reading frame protein;protein preY, mitochondrial protein-coding ENSG00000145337 44317 REVIEWED 736140 PZP pregnancy-zone protein 12 12 p13-p12.2 9192703 9252233 - 9301436 9360966 - 1580863;6480464 2692707;14718574;19105203;17257854;16344560;16335952;12477932;11811950;9344465;8662763;8620037;7513640;6209714;2478422;2476433;2462561;2415522;1989698;1702714;1692292;20708005;20379614;21879768;23251661 5858 F5GXY0;P20742 ABBA01012257;AC010175;AK302259;AK308724;AK313639;AMYH01004244;BC111756;CH471116;DB040351;M24416;NM_002864;X51541;X54380 AAA60234;AAI11757;BAG36397;BAH13658;CAA35919;CAA38255;EAW88588;EAW88589;NP_002855;P20742 Hs.707491 1695104;1721165;1742895;1743997;1746987;2170062;5094292 D12S1257;G48191;G54693;G59418;G64018;GDB:214828;GDB:384758 CPAMD6;MGC133093 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 6;OTTHUMP00000206936;pregnancy zone protein protein-coding ENSG00000126838 9750 07178 176420 VALIDATED 1348512 PYY peptide YY The protein encoded by this gene is proteolytically processed to release a peptide that inhibits pancreatic secretion and mobility in the gut. Rare variations in this gene could increase susceptibility to obesity. [provided by RefSeq, Jul 2010] 17 17 q21.1 39385632 39437363 - 42030106 42081837 - 1625281;1580863;6480464;7240710 17045646 18239577;7782089;18577758;10698177;7592911;10488139;7493937;19344792;19247279;19086053;19058789;19011469;18987287;18929607;18622237;18567824;18534636;18486583;18154642;17936861;17934448;17726080;17597642;17325259;17235527;17138722;17119001;17087952;16907966;16828127;16819834;16720664;16563563;16420657;16368708;16362815;16278259;16204364;16174724;15998659;15983231;15972581;15855352;15489334;15331560;14687084;12477932;11825656;11825655;11825654;11825653;11825650;11825649;11825641;11825640;11408607;11278902;10029457;8318545;3840109;3517149;3202875;2721879;2587421;19913121;20602615;20628086;20642810;20375207;2834384;12665544;19737911;19820027;20468064;19875990;21098684;21360523;23064014;22183081;21610227;21667426;21722955;21502892;21324568;22028819;22303574;23239758;22954902;22979996;23371976;23006423;22844422;23509106;22563842 5697 P10082 ABBA01028392;ABBA01028393;AC007993;AC023855;AMYH01008409;AMYH01008410;BC041057;CH471178;CR542129;D13897;D13899;D13902;L25648;NG_023338;NM_004160 AAA36433;AAH41057;BAA02997;BAA02998;BAA03000;BAA03002;CAG46926;EAW51644;EAW51645;EAW51646;NP_004151;P10082 Hs.169249 1686402;2136245;5022869;5494031 D17S1206;PYY_s24;RH80747;UniSTS:480767 PYY-I;PYY1 PYY-I;peptide YY;peptide tyrosine tyrosine;prepro-PYY 1643448;1643463;2289501;2289511 BW109_H;BW110_H;BW444_H;BW453_H APPROVED protein-coding ENSG00000131096 9748 02869 600781;601665 REVIEWED 1350934 QPCTL glutaminyl-peptide cyclotransferase-like 19 19 19 q13.32 43001866 43013375 + 50887772 50899050 + 46195741 46207248 + 6480464 17353931;15342556;12477932;8125298;15782160;22589738;20935630;21953277;21832049;18486145;19167051;22344219 54814 K7EQG1;Q9NXS2 ABBA01040942;ABBA01040943;ABBA01040944;ABBA01040945;AC007191;AK000091;AK172764;AK222636;AMYH01009855;BC011553;BP216511;BU927708;CH471126;NM_001163377;NM_017659 AAH11553;BAA90938;BAD18747;BAD96356;EAW57375;EAW57376;NP_001156849;NP_060129;Q9NXS2 Hs.631556 5014051;5015619;5022450;5037552;5109283;5118444 D10S275;D11S3114;D11S3316;D1S1431;D8S2278;D8S2279 FLJ20084;gQC glutaminyl cyclase-like;glutaminyl-peptide cyclotransferase-like protein;golgi-resident glutaminyl-peptide cyclotransferase;isoQC protein-coding ENSG00000011478 25952 08612 VALIDATED 734380 QDPR quinoid dihydropteridine reductase This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008] 4 4 p15.31 17097121 17154822 - 17488016 17513857 - 1580863;1601577;1300048;4139904;5128580;5128601;5128581;5128598;6480464;6907045;7240710 2116088;19342614;19743417;2758679;17366478;2359144 3033643;11256614;19405953;19027726;18444252;17188538;16381901;16341674;15489336;15489334;15009710;14718574;12477932;11937441;11153907;11076863;10408783;9744478;9427141;8326489;8262916;8137944;8125298;7627180;6797415;6746636;3718470;3711039;3666748;3587329;3031582;2330583;1160969;11461190;21239886;20471030;19491146;19674121;20201926;20379614;20468064;21145461;20877624;18425437;22020936;21139048;15174051;21565611 5860 B3KW71;B7Z415;D6RGG7;D6RHJ7;H0Y8F7;P09417 AB053170;ABBA01032608;AC006160;AC093600;AJ006239;AK124382;AK223437;AK289773;AK296622;AMYH01014034;AW104747;BC000576;BM762805;CH471069;M16447;NG_008763;NM_000320;X04882 AAA52305;AAH00576;ABM82852;ABM86039;BAB20429;BAD97157;BAF82462;BAG54033;BAH12401;CAA06930;CAA28571;CAL38594;EAW92774;EAW92775;EAW92776;EAW92777;EAW92778;NP_000311;P09417 Hs.75438 1725589;1741565;1762051;2115924 G62087;GDB:181534;SHGC-145965;SHGC-59578 DHPR;FLJ42391;PKU2;SDR33C1 6,7-dihydropteridine reductase;HDHPR;OTTHUMP00000158671;OTTHUMP00000217799;OTTHUMP00000217800;OTTHUMP00000217802;OTTHUMP00000217914;OTTHUMP00000217915;dihydropteridine reductase;short chain dehydrogenase/reductase family 33C, member 1 APPROVED protein-coding ENSG00000151552 9752 02025 261630;612676 REVIEWED 735639 QPCT glutaminyl-peptide cyclotransferase This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008] 2 2 p22.2 37425257 37453969 + 37571753 37600465 + 704349;1580863;6480464 7999256 21288892;22569225;21145461;18486145;18470930;18072935;17687619;17334644;16135565;15489334;15231017;14680951;14522962;12477932;12196024;11551224;3597387;20383514;19804409;17207965;21666788;21301857;21671571;21906983;23183267 25797 B5MCZ9;C9JS14;Q16769 AB062487;ABBA01074981;AC007391;AK290605;AMYH01010260;BC015460;BC020456;BC036721;BC047756;BF970452;BI755122;CH471053;NM_012413;X67731;X71125 AAH36721;AAH47756;AAY14804;ADQ33105;BAB93512;BAF83294;CAA47961;CAA50438;EAX00392;EAX00393;EAX00394;EAX00395;EAX00396;EAX00397;NP_036545;Q16769 Hs.79033 1648989 A002E27 GCT;QC;sQC EC;OTTHUMP00000126955;OTTHUMP00000201838;glutaminyl cyclase;glutaminyl-peptide cyclotransferase;glutaminyl-peptide cyclotransferase (glutaminyl cyclase);glutaminyl-tRNA cyclotransferase;glutamyl cyclase APPROVED protein-coding ENSG00000115828 9753 06140 607065 REVIEWED 1346181 QARS glutaminyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 p21.31 49108369 49117175 - 49133365 49142171 - 1580863;6480464 8078941;14667819;16189514;15592455;15489334;15231748;14702039;12477932;11096076;10913161;10801842;10791971;10393422;9878398;8125298;1651330;16169070;21145461;21319273;11714285;16055448;8052601;8188258;8449960;9278442;23106098;22863883;18029348;18457437;21081666;21139048;21900206;21906983;21987572;21628590;21832049;22223895;22939629;22053931;22190034;22505724 5859 B4DWJ2;B7Z840;C9J165;C9JSG9;F2Z2V6;H7C0R3;P47897 ABBA01024612;AC135506;AF130067;AK056815;AK222510;AK290523;AK293260;AK297987;AK300220;AK301559;AK302867;AMYH01013155;BC000394;BC001567;BC001772;BC016634;BC029739;BM560535;CH471055;DC403423;NM_001272073;NM_005051;NR_073590;X76013 AAG35495;AAH00394;AAH01567;AAH01772;AAH16634;AAH29739;ADZ15511;BAD96230;BAF83212;BAG56792;BAG60295;BAG61988;BAG63054;BAH13826;CAA53600;EAW64952;EAW64953;EAW64954;NP_001259002;NP_005042;P47897 Hs.79322 2121084;5106407 RH78464;SHGC-76928 GLNRS;PRO2195 OTTHUMP00000210569;OTTHUMP00000210572;glutamine tRNA ligase;glutamine--tRNA ligase;glutamine-tRNA synthetase;glutaminyl-tRNA synthetase APPROVED protein-coding ENSG00000172053 9751 07223 603727 REVIEWED 1606909 QRFP pyroglutamylated RFamide peptide The P518 precursor protein can be processed into several RF (arg-phe)-amide peptides, including P518. RF-amide peptides share a common C-terminal motif and are involved in cell signaling through G protein-coupled receptors (Jiang et al., 2003 [PubMed 12714592]).[supplied by OMIM, Mar 2008] 9 9 9 q34.12 104307102 104307512 - 132758636 132759046 - 133768815 133769225 - 6480464 14657341;16899066;15891009;15808908;15489334;12960173;12714592;12477932;20534693;16754659;22466335;22863147 347148 P83859;Q495K5 AB109625;ABBA01012067;AL161733;AMYH01021774;AY438326;BC101127;BC101128;NM_198180 AAI01128;AAI01129;AAR24354;ACE87775;ACT64441;BAC98934;NP_937823;P83859 Hs.660704 1793852;1793854;2220454 PMC299975P1;PMC299975P2;UniSTS:482727 26RFa;MGC119794;P518;RP11-618A20.5 OTTHUMP00000162441;P518 precursor protein;RF(Arg-Phe)amide family 26 amino acid peptide (P518);orexigenic neuropeptide QRFP;prepro-QRFP APPROVED protein-coding ENSG00000188710 29982 17813 609795 VALIDATED 5686995 QRSL1P1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 1 1 q24.2 168418914 168420554 - 730016 ABBA01047231;AL022100;AL023755;AMYH01001486;NG_009546 1337679;1686136;1701258;1769066;1855850;2118268;2120231;2124145;2141837;5094783 AFM126yd8;AL009445;AL009697;D1S433;RH104257;RH68838;RH68875;SHGC-1539;SHGC-75876;TATC028 pseudo 43667 INFERRED 5686994 QRSL1P2 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 2 1 222435175 222436137 - 100422330 ABBA01048058;AL356108;AMYH01001745;NG_027044 2130478 AL009973 pseudo 43668 INFERRED 5686993 QRSL1P3 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 3 14 36235017 36236316 + 100422374 ABBA01061508;AL137818;AMYH01005666;NG_027348 pseudo 43669 INFERRED 1319346 QKI QKI, KH domain containing, RNA binding The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011] 6 6 q26 163755665 163914886 + 163835675 163999628 + 6480464 17012699;16342280;16713569;18938205;18615156;17918747;17787018;17079655;16641098;16205629;16189514;15489334;14702039;14574404;12529443;12511597;12477932;11917126;11856480;10535969;9671495;7829101;17207965;18029348;19545858;19615732;19686745;20927331;20956316;21165711;21467216;21684615;21768773;20082458;8589716;21844227;20133760;21832049;22939629;20631256;19322201;22751500;21139048;21890473;21906983;22569043;19738201;22365833;22490519;23000965;23151878;23275563;23525800;22398723;22944692 9444 F5GXS8;F5GYM3;F5GYT7;F5H5U6;F5H8C8;H0YFB7;H0YG47;H0YGD6;Q8WY44;Q9P0X6 AB067798;AB067799;AB067800;AB067801;AB067808;ABBA01015110;AF142422;AF272349;AI146598;AJ420502;AK027309;AK055085;AK096701;AK295235;AK308784;AL031781;AL050218;AL356119;AMYH01016836;AW022136;AW131362;AY780788;BC008190;BC012222;BC019917;CH471051;DQ323998;NG_029604;NM_006775;NM_206853;NM_206854;NM_206855 AAF63417;AAH12222;AAH19917;AAL36980;AAV98358;ABC88600;ACE87839;ACT64517;ADQ32331;BAB55032;BAB69496;BAB69497;BAB69498;BAB69499;BAB69681;BAG58228;EAW47554;EAW47555;EAW47556;EAW47557;EAW47558;EAW47559;EAW47560;NP_006766;NP_996735;NP_996736;NP_996737;Q96PU8 Hs.510324 1644450;1648256;1653725;1656035;1658059;1669357;1688394;1700492;1735602;2106793;2125963;2131513;2136039;2140729;2149252;2149254;2190779 A006I04;A007D02;D6S1134E;D6S1171E;D6S1930;G20830;QKI;RH103867;RH15845;RH35872;RH41968;RH46662;RH77886;RH92592;UniSTS:464688;WI-13590;WI-16266 DKFZp586I0923;Hqk;QK;QK1;QK3;hqkI OTTHUMP00000017581;OTTHUMP00000017582;OTTHUMP00000017583;OTTHUMP00000239150;OTTHUMP00000239151;OTTHUMP00000239152;OTTHUMP00000239153;OTTHUMP00000239156;OTTHUMP00000239159;OTTHUMP00000239274;RNA binding protein HQK;homolog of mouse quaking QKI (KH domain RNA binding protein);hqkI;protein quaking;quaking homolog, KH domain RNA binding APPROVED protein-coding ENSG00000112531 21100 06691 609590 REVIEWED 1351393 QRFPR pyroglutamylated RFamide peptide receptor 4 4 4 q27 119634941 119687269 - 122469247 122521631 - 122249797 122302181 - 1580863;6480464 12960173;16648250;16344560;12714592;12477932;11574155;16754659;20534693;15717329 84109 F2Z3L3;J3KNR3;Q96P65 AB109629;ABBA01044724;AC093816;AC093867;AK309337;AMYH01014491;BC128132;BC128133;BG169612;CH471056;DA461055;JF810892;NM_198179 AAI28134;AEP43759;BAC98938;EAX05261;EAX05262;NP_937822;Q96P65 Hs.368977 1683627;1764491;2146106;5021872 G20706;RH41058;SHGC-148097;sY3084 AQ27;GPR103;MGC149217;SP9155 G protein-coupled receptor 103;G-protein coupled receptor 103;OTTHUMP00000164030;OTTHUMP00000219822;QRFP receptor;orexigenic neuropeptide QRFP receptor;pyroglutamylated RFamide peptide receptor APPROVED protein-coding 15565 09494 606925 VALIDATED 1321139 QPRT quinolinate phosphoribosyltransferase This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 73086675 73105568 - 29597942 29616816 + 29690441 29709315 + 1580863;6480464;6907045 9473669;3409840;17868694;19321014;16189514;15489334;12477932;10721107;14704851;21139048;21963094;21988832;23000965;22505724 23475 H3BP73;Q15274 ABBA01013120;ABBA01013121;ABBA01013122;AC009086;AC009133;AC023831;AK293195;AMYH01007494;BC005060;BC010033;BC018910;BG748194;BT007231;CH471238;D78177;NM_014298 AAH05060;AAH10033;AAH18910;AAP35895;BAA11242;BAG56735;EAW80014;NP_055113;Q15274 Hs.513484 1767061 G24528 QPRTase OTTHUMP00000123405;QAPRTase;nicotinate-nucleotide pyrophosphorylase;nicotinate-nucleotide pyrophosphorylase (carboxylating);nicotinate-nucleotide pyrophosphorylase [carboxylating] APPROVED protein-coding 9755 06950 606248 REVIEWED 1604772 QRICH2 glutamine rich 2 17 17 17 q25.1 70864059 70897674 - 71781725 71815356 - 74270130 74303761 - 6480464 17353931;11230166;12477932;23263486 84074 E9PPH7;H0YDB9;H7C0E3;Q9H0J4 ABBA01028748;ABBA01028749;AC015801;AC090699;AK058102;AL136774;AMYH01008640;BC131559;CH471099;NM_032134 AAI31560;ACE86846;ACE87533;BAB71667;CAB66708;EAW89384;EAW89385;NP_115510;Q9H0J4 Hs.252739 1657676;2173523 D17S2113;SHGC-57472 DKFZP434P0316 OTTHUMP00000236206;glutamine-rich protein 2 protein-coding ENSG00000129646 25326 10891 PROVISIONAL 4888879 QTRT1P1 queuine tRNA-ribosyltransferase 1 pseudogene 1 X X 113608801 113609820 + 113125930 113126949 + 100420656 ABBA01042997;AC003014;AC236668;AMYH01022848;NG_026873 pseudo 39179 INFERRED 1316813 QSOX2 quiescin Q6 sulfhydryl oxidase 2 QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009] 9 9 9 q34.3 109616549 109656505 - 138238000 138277508 - 139098179 139137687 - 737633;1580863;6480464 12477932 16751776;20881960;15489334;15164053;14702039;14633699;12176051;22939629;20189936;21139048;22503243 169714 H0Y430;Q6ZRP7 ABBA01030065;ABBA01030066;AJ318051;AJ420461;AK128077;AK128750;AL138781;AL834369;AMYH01021858;AMYH01021859;BC047604;BQ269870;CH471090;CR392000;DQ575499;NM_181701 AAH47604;BAC87262;BAG54726;CAC85331;CAD39032;EAW88207;EAW88208;EAW88209;NP_859052;Q6ZRP7 Hs.144073 1339367;2177917;7185325 D9S158;WI-14818 DKFZp762A2013;QSCN6L1;SOXN OTTHUMP00000022565;neuroblastoma-derived sulfhydryl oxidase;quiescin Q6-like 1;quiescin Q6-like protein 1;sulfhydryl oxidase 2 APPROVED protein-coding ENSG00000165661 30249 17942 612860 VALIDATED 1320734 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 3 3 3 q13.31 112184038 112215695 + 115258301 115289959 + 113775582 113807269 + 737633;6480464 12477932 14702039;17207965;20354154;21044367;22939629;21131277;21139048;21890473;21906983;16009940;22505724;22797925 79691 C9JJ71;C9K0B6;Q9H974 ABBA01061640;AC092896;AK023022;AK296938;AK299313;AL832215;AL833709;AMYH01013398;BC034559;BC039265;CH471052;CR457296;DC400836;NM_001256835;NM_001256836;NM_001256837;NM_024638 AAH34559;AAH39265;ADQ31752;BAB14361;BAH12458;BAH12998;CAG33577;EAW79613;EAW79614;NP_001243764;NP_001243765;NP_001243766;NP_078914;Q9H974 Hs.477162 1668966;1675212;2124941;5015619;5022200;5022651;5037552;5117897 D11S2921;D11S3114;D8S2279;GDB:631813;L18426;SGC34819;SHGC-77183;STS-N39421 FLJ12960 OTTHUMP00000214917;OTTHUMP00000214918;queuine tRNA-ribosyltransferase domain-containing protein 1;queuine tRNA-ribosyltransferase subunit QTRTD1 APPROVED protein-coding ENSG00000151576 25771 17944 REVIEWED 1343877 QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 6 6 6 q21 107698355 107737185 + 107184146 107222103 + 107077441 107116292 + 1580863;6480464 18978678;16344560;14702039;12477932;11230166;8125298;20877624;19805282;21900206 55278 Q9H0R6 ABBA01026192;ABBA01026193;AK001851;AK022251;AK023509;AK225262;AK225443;AK314694;AL136679;AL390074;AMYH01016566;BC006084;BC014389;CH471051;DA819470;NM_018292 AAH06084;AAH14389;ADZ15442;BAA91941;BAB13996;BAB14592;BAG37245;CAB66614;EAW48407;EAW48408;NP_060762;Q9H0R6 Hs.406917 1655421;1665311;1687586;1714819;1961984;2115227;2176760;5015619;5037552;5093688 A009V02;D11S3114;D8S2279;G32865;REN51865;RH11857;RH120076;RH46714;STS-Z40982;WI-17036 DKFZp564C1278;FLJ10989;FLJ12189;FLJ13447;GatA OTTHUMP00000016922;OTTHUMP00000016923;glu-AdT subunit A;glutaminyl-tRNA synthase-like protein 1;glutamyl-tRNA(Gln) amidotransferase subunit A homolog;glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial protein-coding ENSG00000130348 21020 15199 VALIDATED 1606541 QRICH1 glutamine-rich 1 3 3 3 p21.31 49023864 49088466 - 49042146 49106508 - 49067142 49131504 - 6480464 16713569;15489334;15231748;14702039;12477932;22863883;19471022;21139048;21693764;21890473;21906983;21987572;21252943 54870 A1L3Z9;C9JAL2;C9JIA8;Q2TAL8 ABBA01024612;ABBA01024613;ABBA01024614;ABBA01024615;ABBA01024616;ABBA01024617;ABBA01024618;AC135506;AC137630;AK000266;AK022524;AK025013;AK074313;AK093259;AK124205;AK292536;AMYH01013155;AW673597;BC000978;BC098375;BC110855;BC130340;BC130342;BI459089;CH471055;NM_017730;NM_198880 AAH00978;AAH98375;AAI10856;AAI30341;AAI30343;ADR83401;BAA91042;BAB14076;BAB85047;BAF85225;EAW64948;EAW64949;EAW64950;EAW64951;NP_060200;NP_942581;Q2TAL8 Hs.297389 1681099;1690932;1718313;2111374;2111872;2157349 D3S2759E;D3S4029;G16539;RH122928;RH80406;RH93145 FLJ20259;MGC131838 OTTHUMP00000210558;OTTHUMP00000210559;OTTHUMP00000210560;glutamine-rich protein 1 protein-coding ENSG00000198218 24713 13372 VALIDATED 1605632 QSER1 glutamine and serine rich 1 11 11 11 p13 33061545 33148565 + 32871368 32958392 + 32914792 33001816 + 6480464 14702039;12477932;19772629;19471022;21139048;21693764;21906983;21252943 79832 B3KWV1;E9PQD3;H0YCQ7;Q2KHR3 ABBA01060899;ABBA01060900;AC107939;AK025577;AK055185;AK095528;AK123858;AK125391;AK125902;AK126023;AL035400;AL049713;AL834141;AMYH01003482;BC013746;BC112935;CH471064;NM_001076786 AAI12936;BAB15176;BAC86397;BAG54263;EAW68214;NP_001070254;Q2KHR3 Hs.369368 1744067;2119636;2136444 GDB:385466;RH18279;STS-AA033959 FLJ21924 OTTHUMP00000232199;OTTHUMP00000232604;OTTHUMP00000232605;glutamine and serine-rich protein 1 protein-coding ENSG00000060749 26154 08645 PROVISIONAL 6769393 R3HDM2P1 R3H domain containing 2 pseudogene 1 4 134045259 134047164 + 100419742 ABBA01044864;AC105383;AMYH01014542;NG_025254 pseudo 44056 INFERRED 6768928 R3HDM2P2 R3H domain containing 2 pseudogene 2 6 q16.3 104465505 104467656 - 100129694 ABBA01014426;AL021330;AMYH01016552;NG_022319 2164885 D6S1015 pseudo 44057 INFERRED 732681 QTRT1 queuine tRNA-ribosyltransferase 1 This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012] 19 19 19 p13.3 10706867 10718794 + 10673131 10685040 + 10812112 10824043 + 1580863;6480464 11255023;15489334;14702039;12477932;8125298;16169070;20354154;21131277;21640076;22797925 81890 B4DFM7;K7EJ21;K7EL95;K7EPI1;K7ESP6;Q71RF8;Q9BXR0 ABBA01029900;ABBA01029901;ABBA01029902;AC011475;AF302783;AF302784;AF302785;AF370379;AK055216;AK057877;AK225173;AK294166;AK314308;AMYH01009479;BC015350;CH471106;CT003728;NM_031209 AAG60033;AAG60034;AAH15350;AAQ15215;BAG36960;BAG57488;EAW84138;EAW84139;EAW84140;EAW84141;EAW84142;EAW84143;NP_112486;Q9BXR0 Hs.631638 2178329;5037552;5109281 D1S1425;D8S2279;RH45376 FP3235;TGT;TGUT TGT, 43-KD subunit;TGT, catalytic subunit;guanine insertion enzyme;queuine tRNA-ribosyltransferase;tRNA-guanine transglycosylase APPROVED protein-coding ENSG00000213339 23797 17943 609615 REVIEWED 69035 QSOX1 quiescin Q6 sulfhydryl oxidase 1 This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q24 178390591 178433792 + 180123968 180167169 + 1580863;6480464 17331072;8396966;10708601;18393449;17944490;16806532;16713569;16710414;15302935;16335952;15489334;14702039;12975309;12477932;12176051;10542195;9878249;19795908;20211621;16712791;22069028;21148546;23568457;22801504;21906983;22582951;21989104;21988832;23704371 5768 A8MXT8;H0Y5Z8;O00391;Q13876 AB209280;ABBA01027797;ABBA01027798;ABBA01027799;AF361868;AK092177;AK290842;AK290887;AL390718;AMYH01001536;AY358941;BC017692;BC100023;BX382719;CB137990;CH471067;L42379;NM_001004128;NM_002826;U97276 AAA89173;AAC09010;AAH17692;AAI00024;AAM00263;AAQ89300;ADZ16009;BAD92517;BAF83531;BAF83576;EAW91076;EAW91077;NP_001004128;NP_002817;O00391 Hs.744925 1666740;1687253;1764833;2116995;2146428;2219590 G35334;QSCN6__5627;RH70739;SHGC-148395;SHGC-76003;WIAF-2111 FLJ34858;Q6;QSCN6 OTTHUMP00000033189;OTTHUMP00000039111;hQSOX;sulfhydryl oxidase 1 APPROVED protein-coding ENSG00000116260 9756 06785;08043 603120 REVIEWED 1316037 R3HDM4 R3H domain containing 4 19 19 19 p13.3 828869 845586 - 847503 864200 - 896503 913225 - 737633;6480464 12477932 15489334 91300 K7EIG9;K7ELK7;K7EN78;K7ER32;Q96D70 ABBA01002607;ABBA01002608;ABBA01002609;AC005379;AC112706;AK000263;AK024622;AMYH01009211;AMYH01009212;AMYH01009213;BC012775;CH471139;NM_138774 EAW69584;NP_620129;Q96D70 Hs.557655 1681498;1734710 D19S700E;RH36162 C19orf22;MGC16353 R3H domain-containing protein 4;R3H domain-containing protein C19orf22 APPROVED protein-coding ENSG00000198858 28270 16625 VALIDATED 1603166 R3HCC1 R3H domain and coiled-coil containing 1 8 8 8 p21.3 22108180 22116360 + 23201387 23209737 + 23145612 23153792 + 6480464 12477932;20691435 203069 E5RHX3;E5RIK1;E5RIQ4;H0YBU3;Q9Y3T6 ABBA01005539;AC090197;AK293465;AL050297;AMYH01018573;BC032421;BC050572;BC143822;BC143827;BC143829;BX426634;CH471080;NM_001136108 AAI43823;AAI43830;BAG56960;CAB43396;EAW63629;EAW63630;NP_001129580;Q9Y3T6 Hs.458644 1763307;1786754;1786762;5019134 RH102334;SHGC-147037;SHGC-155387;SHGC-155506 DKFZp564N123 OTTHUMP00000224878;OTTHUMP00000224879;R3H and coiled-coil domain-containing protein 1 protein-coding ENSG00000104679 27329 VALIDATED 7241617 RAB11AP1 RAB11A, member RAS oncogene family pseudogene 1 100129731 ABBA01021866;AL138923;AMYH01002963;NG_022154 pseudo 45188 INFERRED 1605089 R3HDM2 R3H domain containing 2 12 12 12 q13.3 57301742 57358703 - 55933814 55977083 - 57647548 57704246 - 6480464 16713569;12477932;10737800;10231032;20884846;19322201 22864 B5MCG9;B5MCU0;B7ZL65;C9J7N6;E9PAL1;F8WA40;H0YIF2;H0YIX9;H7C0E9;Q9Y2K5 AB023219;ABBA01026707;AC126614;AC137834;AF113695;AK293394;AMYH01004513;AX775761;AX775763;BC008143;BC041857;BC104995;BC112226;BC143605;BQ346058;BU603842;CH471054;NM_014925 AAF29588;AAH41857;AAI04996;AAI12227;AAI43606;BAA76846;BAG56903;CAE11580;CAE11581;EAW97008;EAW97009;NP_055740;Q9Y2K5 Hs.443673 1658352;2157028;5037552 D12S1266;D8S2279;RH68020 KIAA1002;PR01365 OTTHUMP00000201860;OTTHUMP00000201862;OTTHUMP00000201865;R3H domain-containing protein 2 protein-coding ENSG00000179912 29167 13827 VALIDATED 6770729 RAB11B-AS1 RAB11B antisense RNA 1 19 8439260 8455575 - 8889548 100507567 ABBA01010849;AC136469;AMYH01009441;BC014506;BG031227;BM983524;NR_038237 Hs.637720 1754013;1794942;2118272 D19S1090;PMC85983P1;SHGC-132057 APPROVED miscrna ENSG00000269386 44178 VALIDATED 1316725 R3HDM1 R3H domain containing 1 2 2 2 q21.3 129999849 130193607 + 136005553 136199309 + 136289083 136482839 + 1580863;6480464 19240061;16713569;15570572;15489334;15144186;12477932;7584028;7584026 23518 C9JIX1;C9JIX3;E9PBB4;E9PG42;G5E9G8;H7BZ47;H7C1X4;H7C207;H7C2F9;H7C3T7;Q15032 ABBA01028163;ABBA01028164;ABBA01028165;ABBA01028166;ABBA01028167;AC011893;AC016742;AK026987;AK127793;AK290015;AK297000;AMYH01011123;BC001217;BC041093;CH471058;D21852;NM_015361 AAH01217;AAH41093;AAX88922;AAY14728;BAA04878;BAF82704;BAG54571;BAG59538;EAX11627;EAX11628;NP_056176;Q15032 Hs.412462 1336044;1338989;1644002;1656663;1700882;1778081;1847034;2109721;2143325;2152386 A004Q45;D20S159;D2S1334;D2S409;R3HDM_9360;RH104067;RH25267;RH35866;RH70244;WI-15764 FLJ23334;KIAA0029;R3HDM OTTHUMP00000162533;OTTHUMP00000204066;OTTHUMP00000204067;OTTHUMP00000204145;R3H domain (binds single-stranded nucleic acids) containing;R3H domain-containing protein 1 protein-coding ENSG00000048991 9757 10180 PROVISIONAL 5135115 RAB11FIP1P1 RAB11 family interacting protein 1 (class I) pseudogene 1 X X X q13.2 73706091 73707961 + 73339346 73341216 + 73422621 73424491 + 646080 ABBA01059593;AMYH01022613;NG_007008;Z83843 pseudo 42366 INFERRED 1313241 R3HDML R3H domain containing-like 20 20 20 q13.12 39674292 39688524 + 42399040 42413289 + 42965626 42979875 + 6480464 12477932;21832049;22158537 140902 Q9H3Y0 ABBA01052639;AL117382;AMYH01011932;BC107048;CH471077;NM_178491 AAI07049;EAW75928;NP_848586;Q9H3Y0 Hs.580807 MGC129564;dJ881L22.3 OTTHUMP00000031047;R3H domain (binds single-stranded nucleic acids) containing-like;cysteine-rich secretory protein R3HDML;peptidase inhibitor R3HDML protein-coding ENSG00000101074 16249 17945 PROVISIONAL 1317417 R3HCC1L R3H domain and coiled-coil containing 1-like 10 10 10 q24.2 93631432 93741704 + 99884371 99994644 + 99894381 100004654 + 6480464 16344560;15489334;15164054;14702039;12477932;10867487;8889548;16385451;20379614;15146197 27291 A8K931;D3DR60;J3KNH6;Q4KMT0;Q4KMY3;Q7Z5L2 ABBA01021781;ABBA01021782;AF050198;AF525304;AK058187;AK094479;AK292546;AL139241;AL355301;AMYH01002981;AMYH01002982;BC009231;BC047908;BC098175;BC098268;BC098359;BC099848;BM969188;BU678731;CH471066;CN352617;DA114618;NM_001256619;NM_001256620;NM_001256621;NM_014472;NM_138469 AAC05748;AAH09231;AAH47908;AAH98175;AAH98268;AAH98359;AAH99848;AAP80788;BAC04364;BAF85235;EAW49887;EAW49888;EAW49889;NP_001243548;NP_001243549;NP_001243550;NP_055287;NP_612478;Q7Z5L2 Hs.419800 1758725 SHGC-149320 C10orf28;FLJ25458;FLJ37160;GIDRP86;GIDRP88;PSORT OTTHUMP00000020241;OTTHUMP00000020242;R3H and coiled-coil domain-containing protein 1-like;growth inhibition and differentiation related protein 86;growth inhibition and differentiation-related protein 88;putative mitochondrial space protein 32.1 APPROVED protein-coding ENSG00000166024 23512 12568 VALIDATED 68529 RAB11B RAB11B, member RAS oncogene family The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010] 19 19 p13.2 8361296 8374479 + 8455205 8469318 + 1580863;6480464;6907045 10942597;8125298;7811277;19244346;16545962;15489334;15342556;14627637;12477932;11495908;11481332;11408590;21248079;20877624;16169070;19060906;20686666;20717956;21832049;22939629;20000738;21139048;21890473;21906983;21319273;22561749;15569681;20622010;22053931 9230 B4DMK0;M0R2D0;M0R377;Q15907 ABBA01010846;ABBA01010847;ABBA01010848;ABBA01010849;AC136469;AF498947;AK225036;AK225642;AK297498;AK312994;AMYH01009441;BC110081;BP367041;BP396219;BT019535;BT019536;CH471139;CR536494;CR541691;CX787570;D38516;EF560724;NM_004218;X79780 AAI10082;AAM21095;AAV38342;AAV38343;ABQ59034;ACT64349;ACT64350;BAG35831;BAG59912;CAA56176;CAG38733;CAG46492;EAW68925;EAW68926;EAW68927;NP_004209;Q15907 Hs.626404 2135417 WI-15303 H-YPT3;MGC133246 GTP-binding protein YPT3;RAB11B, member of RAS oncogene family;ras-related protein Rab-11B APPROVED protein-coding ENSG00000185236 9761 05009 604198 VALIDATED 735722 RAB10 RAB10, member RAS oncogene family RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking (Bao et al., 1998 [PubMed 9918381]).[supplied by OMIM, Mar 2009] 2 2 p23.3 26110478 26213782 + 26256729 26360323 + 2302393;2302395;2302397;2306494;6480464 17717074;17629673;18570632;18171431 17353931;19008234;16344560;16154996;15855153;15489334;14702039;12578829;12477932;11230166;10931946;9918381;7688123;11773082;16641372;16923123;21454697;17207965;16169070;17215244;20028485;20379614;21070595;21832049;22939629;23383273;21900206;21987572;19322201;21139048;21890473;21906983;22542470;23263280;19738201;19805454;20360680;22623428;23000965;23246001;23319000 10890 P61026;Q9UL28 ABBA01045170;ABBA01045171;ABBA01045172;ABBA01045173;ABBA01045174;AC011742;AC013449;AF086917;AF091032;AF106681;AF297660;AF498945;AK023223;AK025136;AL136650;AL517754;AMYH01010188;BC000896;CH471053;CR457303;DA295568;NM_016131 AAD43034;AAF00045;AAG13413;AAH00896;AAM21093;AAP97147;AAX93140;AAY24262;ACE86567;ACE87249;ADQ32395;BAB14474;CAB66585;CAG33584;EAX00710;EAX00711;NP_057215;P61026 Hs.467960 1734784;1771722;1796606;2119812;2129342;2137959;2149714;2168172;5093702 A008Q03;A009V12;D2S1559E;D2S2926;G09238;G16405;G32873;RAB10_1045;WI-20600 GTP-binding protein RAB10;OTTHUMP00000120025;ras-related GTP-binding protein;ras-related protein Rab-10;ras-related protein rab10 APPROVED protein-coding ENSG00000084733 9759 06692 612672 VALIDATED 1343833 RAB11A RAB11A, member RAS oncogene family The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 15 15 q22.31 63948850 63968846 + 66161797 66184329 + 2302395;2302397;2312655;2306494;2312656;4892310;6480464;6484113;6907045 17629673;18570632;17156409;18171431;18431594;20548331 11163216;12145319;15229288;19193894;18843107;18701709;18550774;17854769;17538027;17476295;17462998;17426287;17157409;17030804;16730941;16473307;16214890;16189514;16126723;15489334;15304524;15280022;15190120;15188492;15181150;15173169;14702039;14699104;12540381;12477932;18685082;12470645;12435603;11994279;11786538;11495908;11481332;11408590;10512627;10464283;10369872;10077598;9719562;9662449;1711847;1704119;15569681;17353931;10747849;12554740;15604093;15601896;15837192;16148947;16905101;17007872;17540176;18511905;19009530;19641023;19752198;19797056;20026645;20308558;20357086;19996123;20346379;20395296;20933442;20877624;20727405;21273506;21282656;21307188;17082457;21525351;19542231;22939629;21586748;17043677;18781797;12938929;21139048;21890473;21906983;22303009;19322201;19398555;22613832;22420646;19738201;21988832;22304920;22685325;22981775;23000965;23176490;16354686;18311135;18406652;20622010;21789505;22053931 8766 B4DQU5;H3BMH2;H3BN38;H3BSC1;J3KQP6;P62491 ABBA01038835;AC084854;AF000231;AF498946;AK054930;AK297549;AK298961;AK300008;AK311770;AMYH01006720;BC013348;BC047114;BI550703;BT020151;BT020154;CH471082;CR407669;CR536493;DC300743;NM_001206836;NM_004663;X53143;X56740 AAC32887;AAH13348;AAM21094;AAV38953;AAV38956;ABM83980;ABM87302;BAG34713;BAG59943;BAG61057;BAG61825;CAA37300;CAA40064;CAG28597;CAG38732;EAW77752;EAW77753;NP_001193765;NP_004654;P62491 Hs.321541 1675233;1675917;1710438;1736522;1738957;1771935;1796608;1849856;1855139;1856581;2160710;2175417;2190619;5037552 1982;A008D11;D15S710E;D15S728E;D15S857;D15S913;D8S2279;RAB11A;RAB11A_474;RH80236;SHGC-82517;STS-N21208;WI-15108;WI-17132 MGC1490;YL8 OTTHUMP00000164214;RAB 11A, member oncogene family;rab-11;ras-related protein Rab-11A APPROVED protein-coding ENSG00000103769 9760 05715 605570 REVIEWED 1353989 RAB11FIP3 RAB11 family interacting protein 3 (class II) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] 16 16 p13.3 415669 512482 + 475668 572481 + 1580863;6480464;6907045 17628206;17394487;17030804;15616553;15601896;15489334;15158446;12800201;12477932;12470645;11913976;11535061;11495908;11157797;10593962;9734811;11481332;18685082;16148947;17007872;18511905;19327867;20214888;20736163;18029348;22348143;15883036 9727 F6TQ38;F6X994;H0Y7F9;Q9H155 AB014565;ABBA01030364;ABBA01030365;ABBA01030366;ABBA01030367;ABBA01030368;ABBA01030369;ABBA01030370;ABBA01030371;ABBA01030372;AE006463;AF395731;AK293644;AK303061;AL023881;AL049542;AMYH01006992;AMYH01006993;AMYH01006994;AY130007;BC051360;CH471112;DC395000;DC404361;NM_001142272;NM_014700;Z98882 AAH51360;AAK61232;AAL12940;AAN05091;BAA31640;BAG57098;BAG64178;EAW85805;EAW85806;EAW85807;EAW85808;EAW85809;EAW85810;NP_001135744;NP_055515;O75154 Hs.531642 1684256;1757247;1800916;1802546;1805176;1807440;1807964;1808954;1809248;1809402;1809572;1809574;1810184;1810416;1810994;1811070;1811534;1811874;1811942;1812096;1813392;1813798;1813800;1814916;1814990;1815962;1816754;1817548;1817668;1817992;1818082;1819322;1819648;1820218;1820602;1821056;1821324;1821730;1822092;1822236;1824414;1824962;1825210;1827148;1827796;1829622;1829772;1830664;1830938;1832520;1832982;1833372;1834558;1836050;1837876;1837954;1840158;1841870;1842326;1843730;1844036;1846194;1846482;2049528;2049530;2049532;2049534;2049536;2049538;2049540;2049542;2049544;2049546;2049548;2049550;2049552;2049554;2049556;2049558;2049560;2049562;2049564;2049566;2049568;2049570;2049572;2049574;2049576;2049578;2049580;2049582;2049584;2049586;2049588;2049590;2049592;2049594;2049596;2049598;2049600;2049602;2049604;2049606;2049608;2049610;2049612;2049614;2049616;2049618;2049620;2049622;2049624;2049626;2049628;2049630;2049632;2049634;2049636;2049638;2049640;2049642;2049644;2049646;2049648;2049650;2049652;2049654;2049656;2049658;2049660;2049662;2049664;2049666;2049668;2049670;2049672;2049674;2049676;2049678;2049680;2049682;2049684;2049686;2049688;2049690;2049692;2049694;2049696;2049698;2049700;2049702;2049704;2049706;2049708;2049710;2049712;2049714;2049716;2049718;2049720;2049722;2049724;2049726;2049728;2049730;2049732;2049734;2049736;2049738;2049740;2049742;2049744;2049746;2049748;2049750;2049752;2049754;2049756;2049758;2049760;2049762;2049764;2049766;2049768;2049770;2049772;2049774;2049776;2049778;2049780;2049782;2049784;2049786;2049788;2049790;2049792;2049794;2049796;2049798;2049800;2049802;2049804;2049806;2049808;2049810;2049812;2049814;2049816;2049818;2049820;2049822;2049824;2049826;2049828;2049830;2049832;2049834;2049836;2049838;2049840;2049842;2049844;2049846;2049848;2049850;2049852;2049854;2049856;2049858;2049860;2049862;2049864;2049866;2049868;2049870;2049872;2049874;2049876;2049878;2049880;2049882;2049884;2049886;2049888;2049890;2049892;2049894;2049896;2049898;2049900;2049902;2049904;2049906;2049908;2049910;2049912;2049914;2049916;2049918;2049920;2049922;2049924;2049926;2049928;2049930;2049932;2049934;2049936;2049938;2049940;2049942;2049944;2049946;2049948;2049950;2049952;2049954;2049956;2049958;2049960;2049962;2049964;2049966;2049968;2049970;2049972;2049974;2049976;2049978;2049980;2049982;2049984;2049986;2049988;2049990;2049992;2049994;2049996;2049998;2050000;2050002;2050004;2050006;2050008;2050010;2050012;2050014;2050016;2050018;2050020;2050022;2050024;2050026;2050028;2050030;2050032;2050034;2050036;2050038;2050040;2050042;2050044;2050046;2050048;2050050;2050052;2050054;2050056;2050058;2050060;2050062;2050064;2050066;2050068;2050070;2050072;2050074;2050076;2050078;2050080;2050082;2050084;2050086;2050088;2050090;2050092;2050094;2050096;2050098;2050100;2050102;2050104;2050106;2050108;2050110;2050112;2050114;2050116;2050118;2050120;2050122;2050124;2050126;2050128;2050130;2050132;2050134;2050136;2050138;2050140;2050142;2050144;2050146;2050148;2050150;2050152;2050154;2050156;2050158;2050160;2050162;2050164;2050166;2050168;2050170;2104770;2104772;2104774;2104776;2104778;2104780;2104782;2104784;2104786;2104788;2104790;2104792;2104794;2104796;2104798;2104800;2104802;2104804;2104806;2104808;2104810;2104812;2104814;2104816;2104818;2104820;2104822;2104824;2104826;2104828;2104830;2104832;2104834;2104836;2104838;2104840;2104842;2104844;2104846;2104848;2104850;2104852;2104854;2104856;2104858;2104860;2104862;2104864;2104866;2104868;2104870;2104872;2104874;2104876;2104878;2104880;2104882;2104884;2104886;2104888;2104890;2104892;2104894;2150721;5685039 ECD01323;ECD02160;ECD03531;ECD04691;ECD04960;ECD05460;ECD05614;ECD05693;ECD05778;ECD05779;ECD06084;ECD06201;ECD06495;ECD06533;ECD06769;ECD06941;ECD06975;ECD07053;ECD07717;ECD07924;ECD07925;ECD08489;ECD08526;ECD09021;ECD09422;ECD09824;ECD09886;ECD10051;ECD10097;ECD10728;ECD10891;ECD11183;ECD11376;ECD11605;ECD11745;ECD11951;ECD12132;ECD12204;ECD13305;ECD13580;ECD13706;ECD14689;ECD15021;ECD15943;ECD16018;ECD16468;ECD16605;ECD17399;ECD17632;ECD17829;ECD18427;ECD19186;ECD20108;ECD20148;ECD21263;ECD22137;ECD22366;ECD23076;ECD23231;ECD24317;ECD24462;HBA572246;REN95910;REN95911;REN95912;REN95913;REN95914;REN95915;REN95916;REN95917;REN95918;REN95919;REN95920;REN95921;REN95922;REN95923;REN95924;REN95925;REN95926;REN95927;REN95928;REN95929;REN95930;REN95931;REN95932;REN95933;REN95934;REN95935;REN95936;REN95937;REN95938;REN95939;REN95940;REN95941;REN95942;REN95943;REN95944;REN95945;REN95946;REN95947;REN95948;REN95949;REN95950;REN95951;REN95952;REN95953;REN95954;REN95955;REN95956;REN95957;REN95958;REN95959;REN95960;REN95961;REN95962;REN95963;REN95964;REN95965;REN95966;REN95967;REN95968;REN95969;REN95970;REN95971;REN95972;REN95973;REN95974;REN95975;REN95976;REN95977;REN95978;REN95979;REN95980;REN95981;REN95982;REN95983;REN95984;REN95985;REN95986;REN95987;REN95988;REN95989;REN95990;REN95991;REN95992;REN95993;REN95994;REN95995;REN95996;REN95997;REN95998;REN95999;REN96000;REN96001;REN96002;REN96003;REN96004;REN96005;REN96006;REN96007;REN96008;REN96009;REN96010;REN96011;REN96012;REN96013;REN96014;REN96015;REN96016;REN96017;REN96018;REN96019;REN96020;REN96021;REN96022;REN96023;REN96024;REN96025;REN96026;REN96027;REN96028;REN96029;REN96030;REN96031;REN96032;REN96033;REN96034;REN96035;REN96036;REN96037;REN96038;REN96039;REN96040;REN96041;REN96042;REN96043;REN96044;REN96045;REN96046;REN96047;REN96048;REN96049;REN96050;REN96051;REN96052;REN96053;REN96054;REN96055;REN96056;REN96057;REN96058;REN96059;REN96060;REN96061;REN96062;REN96063;REN96064;REN96065;REN96066;REN96067;REN96068;REN96069;REN96070;REN96071;REN96072;REN96073;REN96074;REN96075;REN96076;REN96077;REN96078;REN96079;REN96080;REN96081;REN96082;REN96083;REN96084;REN96085;REN96086;REN96087;REN96088;REN96089;REN96090;REN96091;REN96092;REN96093;REN96094;REN96095;REN96096;REN96097;REN96098;REN96099;REN96100;REN96101;REN96102;REN96103;REN96104;REN96105;REN96106;REN96107;REN96108;REN96109;REN96110;REN96111;REN96112;REN96113;REN96114;REN96115;REN96116;REN96117;REN96118;REN96119;REN96120;REN96121;REN96122;REN96123;REN96124;REN96125;REN96126;REN96127;REN96128;REN96129;REN96130;REN96131;REN96132;REN96133;REN96134;REN96135;REN96136;REN96137;REN96138;REN96139;REN96140;REN96141;REN96142;REN96143;REN96144;REN96145;REN96146;REN96147;REN96148;REN96149;REN96150;REN96151;REN96152;REN96153;REN96154;REN96155;REN96156;REN96157;REN96158;REN96159;REN96160;REN96161;REN96162;REN96163;REN96164;REN96165;REN96166;REN96167;REN96168;REN96169;REN96170;REN96171;REN96172;REN96173;REN96174;REN96175;REN96176;REN96177;REN96178;REN96179;REN96180;REN96181;REN96182;REN96183;REN96184;REN96185;REN96186;REN96187;REN96188;REN96189;REN96190;REN96191;REN96192;REN96193;REN96194;REN96195;REN96196;REN96197;REN96198;REN96199;REN96200;REN96205;REN96206;REN96207;REN96208;REN96209;REN96210;REN96211;REN96212;REN96213;REN96214;REN96216;REN96217;REN96218;REN96219;REN96220;REN96221;REN96222;REN96223;REN96224;REN96225;REN96226;REN96227;REN96228;REN96229;REN96230;REN96231;REN96232;REN96233;REN96234;REN96235;REN96238;RH98692;SHGC-144668;SHGC-61007;stSG609115;stSG609117;stSG609118;stSG609119;stSG609120;stSG609121;stSG609122;stSG609123;stSG609124;stSG609125;stSG609126;stSG609127;stSG609128;stSG609129;stSG609130;stSG609131;stSG609132;stSG609133;stSG609134;stSG609135;stSG609136;stSG609137;stSG609138;stSG609139;stSG609140;stSG609141;stSG609142;stSG609144;stSG609145;stSG609146;stSG609147;stSG609149;stSG609150;stSG609151;stSG609152;stSG609153;stSG609154;stSG609155;stSG609156;stSG609157;stSG609158;stSG609159;stSG609160;stSG609161;stSG609162;stSG609163;stSG609164;stSG609165;stSG609166;stSG609167;stSG609169;stSG609172;stSG609173;stSG609174;stSG609175;stSG609176;stSG609177;stSG609178;stSG609179;stSG609180;stSG609181;stSG609182;stSG609183 CART1;KIAA0665;Rab11-FIP3 EF hands-containing Rab-interacting protein;FIP3-Rab11;MU-MB-17.148;OTTHUMP00000045511;OTTHUMP00000197173;PAC196A12.1;arfophilin-1;cytoplasmic adaptor for RAR and TR;eferin;rab11 family-interacting protein 3;rab11-family interacting protein 3 APPROVED protein-coding ENSG00000090565 17224 18521 608738 VALIDATED 1344867 RAB11FIP2 RAB11 family interacting protein 2 (class I) 10 10 q26.11 119754419 119796104 - 119764427 119806114 - 2312655;2312656;6480464;6907045 17156409;18431594 16251358;18984164;18621683;17626244;16775013;22558309;15489334;15324660;15304524;15173169;15004234;12477932;12470645;12393859;12364336;11994279;11944901;11495908;11481332;10231032;8889548;16905101;20379614;17082457;18029348;23006599;17979178;19542231;22420646 22841 Q3I768;Q7L804 AB023158;ABBA01062936;AC022395;AMYH01003104;AY037299;BC075073;BC075074;BM975322;BX647717;CH471066;DQ013303;NM_014904 AAH75073;AAH75074;AAK68635;AAY67796;BAA76785;EAW49423;NP_055719;Q7L804 Hs.173656 1683008;1685506;1691226;1754561;1772782;1774657;1790993;2168528 A004P42;D19Mgc5;RH44480;RH68381;RH91963;RH94036;SHGC-132842;SHGC-53330 KIAA0941;Rab11-FIP2;nRip11 OTTHUMP00000020579;RAB11-FIP2 long isoform;rab11 family-interacting protein 2 protein-coding ENSG00000107560 29152 10548 608599 VALIDATED 1347457 RAB11FIP1 RAB11 family interacting protein 1 (class I) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP1 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008] 8 8 p11.22 37835628 37876161 - 37716465 37757015 - 6480464;6907045 17353931;19620787;18838556;17081983;16964243;16920206;16216915;16049696;15769254;15489334;15355514;15280022;15181150;15134434;14702039;12477932;11944901;11786538;11495908;12364336;20810886;18029348;20610657;21640764;21139048;21906983;22188018;17979178 80223 E7EX40;Q9H642 ABBA01023565;ABBA01023566;ABBA01023567;AC130304;AF368294;AK026177;AK026275;AK090437;AK092296;AK122583;AK124422;AK226111;AK291781;AL832155;AL833169;AMYH01018651;AY280966;AY280967;AY280968;AY280969;AY280970;AY367050;BC001314;BC054881;BC077720;CH471080;CQ859756;DQ083995;DQ236342;NM_001002814;NM_025151 AAH77720;AAM09571;AAQ18784;AAQ18785;AAQ18786;AAQ18787;AAQ18788;AAR15506;AAY86040;ABB43161;BAB15424;BAC03418;BAC56924;BAF84470;BAG52524;CAH25928;EAW63347;EAW63348;EAW63349;NP_001002814;NP_079427;Q6WKZ4 Hs.191179 1679646;1731369;1858295;2110697;2141610;2149986;2156579;2165674;5014063;5014740;5015404;5015619;5015961;5016478;5017170;5020414;5020740;5020948;5024756;5037552;5114248;7184802 D11S3114;D15S1390;D15S1477;D17S610;D18S21;D8S1923;D8S2119;D8S2279;G32137;G35510;GDB:434012;L17688;L17705;L17809;L29953;RCP_3679;RH45531;RH78422;RH80030;RH98869;STS-H02245 DKFZp686E2214;FLJ22524;FLJ22622;MGC78448;NOEL1A;RCP;rab11-FIP1 OTTHUMP00000225615;OTTHUMP00000225616;OTTHUMP00000225617;RAB11 coupling protein;Rab effector protein;Rab-interacting recycling protein;rab-coupling protein;rab11 family-interacting protein 1 APPROVED protein-coding ENSG00000156675 30265 09787 608737 VALIDATED 1348691 RAB11FIP4 RAB11 family interacting protein 4 (class II) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP4 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Apr 2008] 17 17 17 q11.2 26666452 26785001 + 26742768 26889352 + 29718642 29865232 + 1580863;6480464;6907045 17632510;16713569;16148947;15489334;14702039;12696059;12477932;12470645;11468690;11347906;10843809;11495908;15601896;17030804;20379614;21890473;20682791;22348143 84440 J3QKR9;J3QLM3;K7EL58;K7EMK3;Q86YS3 AB058724;ABBA01014958;ABBA01014959;ABBA01014960;ABBA01014961;AC003101;AC135724;AJ314646;AK055019;AK074060;AK074341;AK097424;AL359563;AL831830;AMYH01008321;AMYH01008322;AMYH01008323;AMYH01008324;AY169244;BC004515;BC006240;BC023618;BC047674;BC093914;BC094803;BC101517;CH471147;NM_032932 AAH93914;AAI01518;AAO21970;BAB47450;BAB84886;BAC05045;CAC44535;CAD38543;EAW80265;NP_116321;Q86YS3 Hs.406788 1651570;1661137;1687662;1696240;1722421;1729568;1735498;1769039;2116543;2123967;2126833;2129600;2135033;2146723;2163483;2166012;2168479;2175734;2219592;2219990;5022578;5037552;5096216 Cda0zg05;D17S145;D17S1681;D17S1972;D1S1423;D5S1621E;D8S2279;G60284;IB518;NF1__6237;RAB11-FIP4__5629;RH18392;RH69351;RH78102;RH78318;RH91562;SGC30494;SHGC-57602;SHGC-8060;SHGC-83604;STS-M79255;WI-18876;WIAF-1519 FLJ00131;KIAA1821;MGC11316;MGC126566;RAB11-FIP4 FIP4-Rab11;OTTHUMP00000163676;arfophilin-2;rab11 family-interacting protein 4 APPROVED protein-coding ENSG00000131242 30267 11466 611999 VALIDATED 1346694 RAB12 RAB12, member RAS oncogene family 18 18 18 p11.22 8493793 8523729 + 8599443 8629380 + 8609443 8639380 + 6480464 15489334;12477932;21139048;21890473;22178446 201475 Q6IQ22 ABBA01049934;ABBA01049935;AK127824;AMYH01008798;AMYH01008799;AP001793;BC050338;BC071600;BC098407;CH471113;NM_001025300 AAH71600;AAH98407;EAX01616;NP_001020471;Q6IQ22 Hs.270074 1299942;1651416;1660481;1673096;1693618;1715841;1850898;2120580;2121142;2139109 A006T07;D18S843;G29154;RH119614;RH16019;RH17850;RH36089;SGC33969;SHGC-58531;SHGC-63602 FLJ45927;MGC104724 putative Ras-related protein Rab-12;ras-related protein Rab-12 protein-coding ENSG00000206418 31332 VALIDATED 1346029 RAB11FIP5 RAB11 family interacting protein 5 (class I) 2 2 p13 73154018 73193654 - 73300510 73340146 - 6480464;6907045 15324660;12364336;11278501;18957512;18384058;17854769;17081983;15489334;15144186;14702039;12684040;12477932;12470645;11495908;11481332;11163216;10545525;10048485;12554740;20379614;20717956;20877624;16751776;22939629;18029348;21969467;21139048;21906983;17620599;16148947;18729074;22053931;22505724;22952844 26056 Q9BXF6;Q9UFM0 AB020664;ABBA01075576;AC010913;AC012366;AF153085;AF334812;AK023823;AK024727;AL117579;AMYH01010436;BC035013;BC099902;CH471053;NM_015470 AAF34356;AAH35013;AAK20892;AAX88900;AAY14746;ABM81917;ABM85094;BAA74880;CAB56002;EAW99749;EAW99750;EAW99751;NP_056285;Q9BXF6 Hs.24557 1338910;1655188;2107131 D2S2111;GAF1__6771;RH78075 DKFZp434H018;GAF1;KIAA0857;RIP11;pp75 OTTHUMP00000160201;gaf-1;gamma-SNAP-associated factor 1;phosphoprotein pp75;rab11 family-interacting protein 5;rab11-FIP5;rab11-interacting protein Rip11 protein-coding ENSG00000135631 24845 16117 605536 VALIDATED 1351715 RAB15 RAB15, member RAS oncogene family 14 14 14 q23.3 45467116 45493459 - 64482287 64508551 - 65412532 65438875 - 6480464 21319273;18676680;16195351;15489334;15146197;12578829;12508121;12477932;12105226;11697911;10837464;10428799;19913121;20628086;17207965;19170196;19625176;19692168;19773279;20379614;21491086;22427180;21853274 376267 G3V196;G3V562;G5EMR7;J3QSF4;P59190;Q6MZX6 AB672631;AB672632;AB678452;AB678453;ABBA01018373;ABBA01018374;AL139022;AMYH01005801;AMYH01005802;BC014511;BC040679;BX248046;BX640825;CH471061;CN352234;NM_198686;W81100 AAH40679;ADQ32453;BAL14287;BAL14288;BAL14289;BAL14290;CAD62353;CAE45901;EAW80893;EAW80894;EAW80895;NP_941959;P59190 Hs.512492 1689568;5090949 RH44212;RH76749 OTTHUMP00000183466;OTTHUMP00000233458;OTTHUMP00000246686;OTTHUMP00000246687;RAB15, member RAS oncogene family;RAB15, member RAS onocogene family;Ras-related protein Rab-15 isoform AN1;Ras-related protein Rab-15 isoform AN2;Ras-related protein Rab-15 isoform AN3;ras-related protein Rab-15 APPROVED protein-coding ENSG00000139998 20150 11467 VALIDATED 1346493 RAB17 RAB17, member RAS oncogene family The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009] 2 2 2 q37.3 232196815 232213528 - 238147704 238177653 - 238482965 238499769 - 1580863;6480464 17353931;11256614;16381901;15761153;15489336;15489334;14702039;12477932;11230166;11076863;10329441;9624171;8486736;8125298;16169070;15342556;20379614;22328529;21291502;23251661 64284 B8ZZM5;C9J0T6;F8WAG1;F8WBE9;H7C1P7;Q6PJZ0;Q9H0T7 ABBA01042588;AC104667;AK022600;AK225423;AL136645;AMYH01011598;BC000929;BC007907;BC009827;BC023661;BC050426;BP313619;BX647412;CH471063;CR457282;CR533454;NM_022449;NR_033308 AAH00929;AAH07907;AAH09827;AAH50426;AAY24047;BAB14121;CAB66580;CAG33563;CAG38485;CAL37678;EAW71118;EAW71119;EAW71120;NP_071894;Q9H0T7 Hs.44278 2159471 RH69487 FLJ12538 OTTHUMP00000164417;OTTHUMP00000202805;ras-related protein Rab-17 APPROVED protein-coding ENSG00000124839 16523 11468 602206 VALIDATED 733233 RAB13 RAB13, member RAS oncogene family This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013] 1 1 q21.2 152220751 152225430 - 153954127 153958806 - 1580863;6480464 8294494;18029348;18779367;17891173;16710414;16381901;15761153;15528189;15489336;15489334;14702039;12477932;11076863;9918381;9712853;9605854;8375503;16923123;19885626;15146197;19273188;21139048;21906983;22178446;22562557 5872 P51153;Q504R6 ABBA01049460;AF498948;AK128675;AK291580;AL358472;AMYH01001409;AY423722;BC000799;BC009227;BC073168;BC094846;BJ997167;BT019700;BT019701;BU188046;CH471121;CN396084;NM_001272038;NM_002870;NR_073553;X75593 AAH00799;AAH09227;AAH73168;AAH94846;AAM21096;AAS00485;AAV38506;AAV38507;BAF84269;CAA53266;CAL37529;CAL38030;CAL38143;CAL38342;CAL38614;CAL38685;EAW53248;EAW53249;EAW53250;NP_001258967;NP_002861;P51153 Hs.151536 1678199;1684524;5037552 D8S2279;RH70905;RH79166 GIG4 OTTHUMP00000034758;RAS-associated protein RAB13;cell growth-inhibiting gene 4 protein;growth-inhibiting gene 4 protein;ras-related protein Rab-13 protein-coding ENSG00000143545 9762 04053 602672 REVIEWED 1604893 RAB1C RAB1C, member RAS oncogene family pseudogene 9 9 9 p13.2 37569905 37570510 - 37626585 37627390 - 37636685 37637290 - 6480464 17474147;9030196 441400 Q92928 ABBA01050390;AL513165;AMYH01019358;CH471071;NG_005395;U66622 AAC51197;EAW58272;Q92928 Hs.651788 pseudo 23683 INFERRED 737104 RAB14 RAB14, member RAS oncogene family RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009] 9 9 q32-q34.11 122980237 123003913 - 123940415 123964365 - 2302393;2302395;2302397;2306295;2306494;6480464 17717074;17629673;18570632;18701652;18171431 15004230;17353931;11256614;16381901;16344560;15761153;15489336;15489334;15164053;14702039;12477932;11790131;11230166;11149929;11076863;10931946;9792283;9110174;8619474;21358675;19702578;20534812;12535645;16034420;16902405;21124879;23383273;21832049;22939629;22178446;21139048;21890473;21906983;22595670;22610502;22053931;22505724 51552 P61106 ABBA01016234;AF052113;AF112206;AF152463;AF203689;AF498949;AK000447;AK023524;AK090889;AL110256;AL137068;AL162081;AMYH01021692;AY553875;BC006081;BC013057;CH471090;CR457394;DA404780;NM_016322 AAF00150;AAF17194;AAF19400;AAH06081;AAM21097;AAS64573;BAB14598;BAG52243;CAB82414;CAG33675;CAL38170;CAL38228;EAW87487;EAW87488;NP_057406;P61106 Hs.371563 1768046;1855925;2145303;2164996;2176452;2217882 2082;FB23F1;G31068;RAB14_1893;RH47559;STS-AA025734 FBP;RAB-14 F protein-binding protein 1;OTTHUMP00000022008;OTTHUMP00000022009;bA165P4.3 (member RAS oncogene family);gtpase rab14;ras-related protein Rab-14;small GTP binding protein RAB14 APPROVED protein-coding ENSG00000119396 16524 06693 612673 VALIDATED 1604143 RAB19 RAB19, member RAS oncogene family 7 7 7 q34 134825908 134848114 + 139753916 139772419 + 140103843 140126050 + 6480464 12690205;12477932 401409 A4D1S5;C9JJQ5 AACC02000022;ABBA01034066;AC069335;AC093087;AF091033;AMYH01017986;BC140796;BC171745;CH236950;CH471070;DN996121;DY655778;NM_001008749 A4D1S5;AAF00046;AAI40797;EAL24028;EAL24029;EAW83948;NP_001008749 Hs.583545 RAB19B GTP-binding protein RAB19B;OTTHUMP00000212106;OTTHUMP00000212107;ras-related protein Rab-19 protein-coding ENSG00000146955 19982 17946 VALIDATED 1318941 RAB18 RAB18, member RAS oncogene family The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 10 10 p12.1 27833255 27869105 + 27793103 27831166 + 1580863;6480464 16808905;16381901;16207721;16147880;15914536;15489336;15489334;15164054;14702039;12800201;12477932;11256614;11230166;11076863;10931946;8889549;8125298;7706395;7566098;16169070;10648831;18349058;12535645;17540176;18664496;21473985;15146197;15342556;19471022;21139048;21906983;21963094;23176487;23000965 22931 B7Z4P9;B7Z5V3;H0Y6T8;Q5W0J0;Q9NP72 AB209698;ABBA01034387;AF087860;AF136974;AF137372;AF498950;AF532968;AJ277145;AK001555;AK223153;AK295443;AK297629;AK299457;AL136734;AL138920;AMYH01002205;AY574034;BC015014;BC029350;BP210053;BT009840;CH471072;CN357871;CR533455;N56901;NG_032035;NM_001256410;NM_001256411;NM_001256412;NM_001256415;NM_021252;NR_046172 AAF61433;AAG49435;AAH15014;AAH29350;AAM21098;AAP85637;AAP88842;AAP97170;AAU08232;BAD92935;BAD96873;BAG50939;BAH12069;BAH12635;BAH13039;CAB66668;CAB86486;CAG38486;CAL38020;EAW86054;EAW86055;NP_001243339;NP_001243340;NP_001243341;NP_001243344;NP_067075;Q9NP72 Hs.406799 1655268;1667101;1673965;1677826;1778332;1848221;2154977;2161064;2217884 RAB18_3279;RH46011;RH47179;RH92596;SHGC-32671;SHGC-36745;STS-H21670;STS-N52153;STS-W45315 RAB18LI1;WARBM3 OTTHUMP00000019371;OTTHUMP00000019372;OTTHUMP00000019373;RAB18 small GTPase;ras-related protein Rab-18 APPROVED protein-coding ENSG00000099246 14244 03731 602207;614222 REVIEWED 1315116 RAB20 RAB20, member RAS oncogene family 13 13 13 q34 92021471 92060129 - 109973414 110012072 - 111175413 111214071 - 1580863;6480464 18649179;16613320;15489334;14702039;12477932;11697911;7706395;20379614;21139048 55647 Q9NX57 ABBA01026993;AJ272065;AK000436;AK000446;AL139385;AMYH01005376;AMYH01005377;BC026025;CH471085;NM_017817 AAH26025;ABM83071;ABM86266;BAA91163;BAA91171;CAC81247;EAX09113;NP_060287;Q9NX57 Hs.743563 1729716;1737471;1796612 D13S1022;D7S463;RAB20_1051 FLJ20429 OTTHUMP00000018699;ras-related protein Rab-20 protein-coding ENSG00000139832 18260 06694 PROVISIONAL 1350604 RAB1A RAB1A, member RAS oncogene family This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008] 2 2 p14 65167493 65210793 - 65313988 65357435 - 6480464 2501306;19135528;18363836;18167358;17901050;17684057;16381901;15489336;15489334;14702039;12788069;12656988;12538640;12477932;11739401;11739271;11285137;11256614;11230166;11076863;10903204;9918381;9730828;9341137;8838809;8356066;8294464;7991565;1902553;17620599;22491470;22628317;16189514;11718716;16169070;16473624;16902405;19357319;20176951;20639577;20980813;23055524;21320693;21680502;22863883;22939629;19471022;22228731;18781797;21139048;21906983;19322201;22260459;22505724 5861 B7Z8M7;E7END7;E7ETK2;P62820;Q5U0I6 ABBA01075431;ABBA01075432;ABBA01075433;ABBA01075434;AC007318;AF398475;AF498929;AI768809;AK055927;AK303678;AK315495;AL050268;AMYH01010404;BC000905;BG704216;BT019528;BT019529;BX571747;CH471053;CR533479;CR536488;DC352417;M28209;NM_004161;NM_015543 AAA60240;AAH00905;AAK94463;AAM21077;AAV38335;AAV38336;ABM85010;ACE86509;ACE87190;BAB71048;BAG37879;BAH14013;CAB43369;CAE11872;CAG38510;CAG38727;CAL37562;EAW99917;EAW99918;EAW99919;EAW99920;EAW99921;EAW99922;EAW99923;EAW99924;EAW99925;NP_004152;NP_056358;P62820 Hs.310645 1758017;1796610;1855304;2107791;2191543 MARC_26152-26153:1030387245:1;MARC_33894-33895:1054217168:1;RAB1A_1049;SHGC-147132;WI-13176 DKFZp564B163;RAB1;YPT1 GTP binding protein Rab1a;OTTHUMP00000202271;OTTHUMP00000202272;OTTHUMP00000202273;OTTHUMP00000202274;RAB1, member RAS oncogene family;Rab GTPase YPT1 homolog;YPT1-related protein;ras-related protein Rab-1A APPROVED protein-coding ENSG00000138069 9758 01538 179508 REVIEWED 1345480 RAB1B RAB1B, member RAS oncogene family Members of the RAB protein family, such as RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB1B functions in the early secretory pathway and is essential for vesicle transport between the endoplasmic reticulum (ER) and Golgi (Chen et al., 1997 [PubMed 9030196]; Alvarez et al., 2003 [PubMed 12802079]).[supplied by OMIM, Jan 2009] 11 11 q12 65792632 65801539 + 66036056 66044963 + 1580863;6480464 17353931;17474147;11256614;17947549;17429068;16381901;15796781;15694364;15489336;15489334;12802079;12477932;12051767;11306556;11230166;11076863;10493955;9437002;9030196;8836150;7592724;1918138;21093099;20164217;20980813;23236136;21832049;22863883;22939629;21680502;18781797;22178446;21139048;21890473;21906983;21926972;23188820;19805454;21963094;21988832;22053931;23000965;23246001;23288104;22260459 81876 E9PLD0;Q9H0U4 ABBA01024088;AF092437;AJ245875;AK292086;AK315333;AL136635;AMYH01003729;AMYH01003730;AP001107;BC028331;BC071169;BG717501;CR533462;NM_030981;U66621 AAC51196;AAH71169;AAP97212;BAF84775;BAG37733;CAB66570;CAC21570;CAG38493;CAL38073;NP_112243;Q9H0U4 Hs.300816 5113072 RH69692 OTTHUMP00000234421;OTTHUMP00000234422;ras-related protein Rab-1B;small GTP-binding protein APPROVED protein-coding ENSG00000174903 18370 11469 612565 VALIDATED 1350890 RAB21 RAB21, member RAS oncogene family RAB21 belongs to the RAB family of small GTP-binding proteins that regulate intracellular vesicle targeting (Opdam et al., 2000 [PubMed 10887961]).[supplied by OMIM, Nov 2008] 12 12 12 q21.1 71810833 71843321 + 70434925 70467417 + 72148658 72181150 + 1331374;1580863;6480464 10887961 11256614;16754960;16381901;15489336;15489334;12477932;11697911;11076863;9918381;7788527;16034420;17450153;18804435;19745841;17581628;22939629;18781797;21139048;22525675;19322201;22053931 23011 Q96GX3;Q9UL25 ABBA01026506;ABBA01026507;AC012018;AC089984;AF091035;AMYH01004579;BC009109;BC021901;BC092475;CH471054;D42087;NM_014999 AAF00048;AAH09109;AAH21901;AAH92475;BAA07682;CAL38568;EAW97270;EAW97271;NP_055814;Q9UL25 Hs.524590 1707806;1757023;1782768;1796614;2186223;2186763;5014051;5015619;5022200;5037552 A008Y11;D11S3114;D8S2278;D8S2279;L18426;RAB21_1053;RH25342;SHGC-144387;SHGC-172822;SHGC-82129 KIAA0118 OTTHUMP00000241571;ras-related protein Rab-21 APPROVED protein-coding 18263 06695 612398 PROVISIONAL 1323682 RAB22A RAB22A, member RAS oncogene family The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008] 20 20 20 q13.32 53625236 53683029 + 56318177 56375969 + 56884771 56942563 + 1580863;6480464;6907045 11870209;16537905;16189514;15761153;15748882;15489334;15181155;14702039;12477932;11780052;10887961;10329441;9918381;16923123;19759177;21674799;19322201;21139048;16034420 57403 Q96IY7;Q9UL26 ABBA01005978;ABBA01005979;ABBA01005980;ABBA01005981;AF091034;AJ276210;AK054767;AK091180;AL035455;AL049985;AMYH01012018;AMYH01012019;BC007036;BC015710;BC016864;BC042545;BC063457;BI457862;BT007046;CH471077;DB452461;NM_020673 AAF00047;AAH07036;AAH15710;AAH63457;AAP35695;BAG52298;CAC10538;EAW75496;EAW75497;NP_065724;Q9UL26 Hs.529044 1796616;2116120;2120800;2140538;2140540;2170912;2183701;5015861;5020946;5037552;5109281;7185938 A002U04;A006N26;D10S16;D1S1425;D8S2279;HSCZWA052;L17971;RAB22A_1154;RH11002;RH15965;WI-20991 MGC16770 GTP-binding protein RAB22A;OTTHUMP00000031397;rab-22;ras-related protein Rab-22A APPROVED protein-coding ENSG00000124209 9764 06696 612966 REVIEWED 1315728 RAB23 RAB23, member RAS oncogene family This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 p11 57161540 57195037 - 57053581 57087078 - 1580863;6480464;6484113;6907045;7240710 18559507;18485483;17503333;17373734;15489334;14617350;14612978;14574404;12878157;12477932;11042152;22365972;21412941;20358613;21963094;21988832;21139048;21890473;21540310;16344560;22724020;23007279;23599695;22452336 51715 Q9ULC3 AB025427;AB034244;ABBA01050484;AF161486;AF498951;AK311123;AK313796;AL031321;AMYH01016370;AU280196;AY585189;BC015021;CH471081;CR749371;DA021294;DA391757;DA997359;NG_012170;NM_001278666;NM_001278667;NM_001278668;NM_016277;NM_183227;NR_103822 AAF29101;AAH15021;AAM21099;AAT79492;ACE86873;ACE87561;BAA87324;BAB40309;BAG36532;CAH18224;EAX04476;EAX04477;EAX04478;EAX04479;NP_001265595;NP_001265596;NP_001265597;NP_057361;NP_899050;Q9ULC3 Hs.555016 1669361;1699098;1796618;2125604 D6S1786;RAB23_476;RH103125;STS-W60718 DKFZp781H0695;HSPC137;MGC8900 OTTHUMP00000016667;RAB family small GTP binding protein RAB 23;ras-related protein Rab-23 APPROVED protein-coding ENSG00000112210 14263 05850 201000;606144 REVIEWED 1344346 RAB24 RAB24, member RAS oncogene family RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009] 5 5 5 q35.3 171770617 171773163 + 176660805 176663350 - 176728199 176730744 - 1580863;6480464 16344560;15489334;14702039;12477932;12323076;10660536;8126105;20877624;20562859;16034420;21139048;21890473;21906983 53917 D6RFW3;F8W8H5;Q969Q5 ABBA01033458;AC146507;AF087904;AF258583;AK021761;AK308155;AL833898;AMYH01015872;BC010006;BC015534;BC021263;BT007268;CH471195;DA058886;NM_001031677;NM_130781 AAG23786;AAH10006;AAH15534;AAH21263;AAP35932;AAP97202;ABM81962;ABM85141;ACE86545;ACE87226;BAB13887;CAD38754;EAW85024;EAW85025;EAW85026;EAW85027;EAW85028;EAW85029;NP_001026847;NP_570137;Q969Q5 Hs.16258 1653573;2217886 RAB24_2676;WI-11343 OTTHUMP00000161435;OTTHUMP00000161437;OTTHUMP00000223588;ras-related protein Rab-24 APPROVED protein-coding ENSG00000169228 9765 06697 612415 VALIDATED 1318219 RAB25 RAB25, member RAS oncogene family RAB proteins, such as RAB25, are members of the RAS superfamily of small GTPases that are involved in membrane trafficking. Members of the RAB11 subfamily, including RAB25, control the return of internalized membrane-associated moieties to the cell surface (Caswell et al., 2007 [PubMed 17925226]).[supplied by OMIM, Aug 2009] 1 1 q22 154297590 154306919 + 156030966 156040295 + 1580863;6480464 22253197;17353931;18029348;17925226;17393986;15761153;15489334;12477932;11697911;11591653;11495908;11481332;11408590;9389793;8360141;15502842;19795443;20197623;17207965;21075212;21292315;22644676;22249560;23030522;21906983;23176489;22613965;22991305 57111 P57735 ABBA01016672;ABBA01016673;AF083124;AF274025;AL355388;AMYH01001434;BC004416;BC009831;BC033322;CH471121;NM_020387 AAF98238;AAH04416;AAH09831;AAH33322;AAM69362;ACE86747;ACE87433;ADQ33138;EAW53003;NP_065120;P57735 Hs.632469 1665859;2170163 A005X41;WI-11851 CATX-8;RAB11C OTTHUMP00000018847;ras-related protein Rab-25 APPROVED protein-coding ENSG00000132698 18238 06698 612942 PROVISIONAL 732208 RAB27B RAB27B, member RAS oncogene family Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010] 18 18 q21.2 50646838 50708210 + 52495708 52562747 + 1580863;6480464 9066979;18478159;15489334;14699162;12907454;12578829;12477932;12122117;11956164;11856727;11178108;2507536;1445946;21198862;18029348;11980908;20237496;20379614;20484105;20888820;16880209;19966785;8619474;9110174;21304180;22349512;23217148 5874 K7EJ38;K7ES41;O00194 ABBA01056104;ABBA01056105;AC007673;AC098848;AF131784;AF329499;AF498954;AK314115;AMYH01009014;AMYH01009015;BC027474;CH471096;NM_004163;U57093 AAC51194;AAH27474;AAK11243;AAM21102;ABM83356;ABW03319;BAG36807;EAW63010;NP_004154;O00194 Hs.25318 1755439;1793790;1793792;1848031;2217888 PMC29082P1;PMC29082P2;RAB27B_3349;RH12216;SHGC-142310 C25KG C25KG;OTTHUMP00000163562;ras-related protein Rab-27B APPROVED protein-coding ENSG00000041353 9767 04846 603869 VALIDATED 736116 RAB26 RAB26, member RAS oncogene family Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010] 16 16 16 p13.3 2413043 2418558 + 2138652 2144142 + 2198651 2204141 + 1580863;6480464 11043516;16696853;15616553;15489334;12578829;12477932;10857477;8889548;20038531;19913121;20628086;23105096;21832049;21139048 25837 B2RAA6;H3BMG6;H3BQ97;Q9ULW5 AB027137;ABBA01030271;AC005346;AC009065;AF498952;AK308560;AK309666;AK314110;AMYH01007050;AMYH01007051;AMYH01007052;AY646153;BC007681;BC066913;CB242472;CH471112;NM_014353 AAH66913;AAM21100;AAU88191;BAA84707;BAG36803;EAW85550;EAW85551;EAW85552;NP_055168;Q9ULW5 Hs.3797 1798062;1850494 RAB26_2225;RH71168 V46133 OTTHUMP00000159048;Ras-related oncogene protein;ras-related protein Rab-26 APPROVED protein-coding ENSG00000167964 14259 05676 605455 VALIDATED 1354398 RAB27A RAB27A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 15 15 q15-q21.1 53283084 53369293 - 55495164 55582013 - 1601587;1580863;1600821;2311087;6480464;7240710 12531900;12058346;19295123 9066979;18029348;11266474;18832576;18812475;18768832;18571497;18559336;18403584;18397837;18350256;18337447;18311812;18281284;17352418;17255357;17090228;17081065;16965270;16923811;16880209;16762324;16630545;16278825;16004602;15489334;15059972;14699162;12802062;12643545;12590134;12578829;12477932;12446441;12189142;12148598;12122117;12107410;12101244;12062444;12051743;12006666;11980908;11865063;11856727;11773082;11752456;11266473;10931946;10835631;10571040;7592656;2507536;12176990;16169070;14593078;20370853;21129771;15548590;17045265;17237785;18266782;19270261;19704116;19953648;20083228;20237496;20877725;19966785;21169636;21693760;16344560;21314004;21170347;21832049;21139048;21883982;21890473;21740491;21669283;22753498;23176485;23164453;23160464;22844437 5873 A2RU94;H3BN55;H3BS49;H3BU81;H3BUD9;H3BVH7;P51159 ABBA01039033;ABBA01039034;ABBA01039035;AC011912;AC018926;AF125393;AF154840;AF443871;AF498953;AK312836;AMYH01006665;AMYH01006666;AV661679;BC107680;BC132800;BC136423;BM014705;CA398159;CA437806;CH471082;CR457076;CR536496;CR541693;DA182503;DA553342;NG_009103;NM_004580;NM_183234;NM_183235;NM_183236;U38654;U57094 AAC50271;AAC51195;AAD43049;AAD47629;AAI07681;AAI32801;AAI36424;AAL39097;AAM21101;ADR82884;BAG35690;CAG33357;CAG38735;CAG46494;EAW77476;EAW77477;EAW77478;EAW77479;NP_004571;NP_899057;NP_899058;NP_899059;P51159 Hs.654978;Hs.735555 1667687;1689209;1793914;1793916;1796620;2119228;2148510;5014051;5021872;5022651 D11S2921;D8S2278;PMC307551P1;PMC307551P2;RAB27A_1662;RH77982;RH93587;SHGC-17600;STS-H96653;sY3084 GS2;HsT18676;MGC117246;RAB27;RAM GTP-binding protein Ram;OTTHUMP00000162796;rab-27;ras-related protein Rab-27A APPROVED protein-coding ENSG00000069974 9766 04845 603868;607624 REVIEWED 736462 RAB28 RAB28, member RAS oncogene family This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009] 4 4 4 p15.33 13835557 13952196 - 12978480 13095054 - 13369347 13485989 - 633759;1580863;6480464 8647132 19026641;17411337;16344560;15489334;12477932;11387043;10966806;17207965;20379614;21832049;21139048;23251661 9364 H0Y927;H0Y9G4;H0Y9S6;P51157;Q8WVF3 ABBA01032543;AC006226;AC006445;AC020729;AF498955;AMYH01014007;BC018067;BC035054;BQ021120;CH471069;CX165950;DA369194;NM_001017979;NM_001159601;NM_004249;X94703 AAH18067;AAH35054;AAM21103;ADQ32473;CAA64364;EAW92711;EAW92712;NP_001017979;NP_001153073;NP_004240;P51157 Hs.656060 1648222;1655203;1724471;1730020;1849747;2110163;2126046;2176850;2189071 D4S1228;D4S2874;D4S329;G65190;M95310;RH122401;SHGC-31764;SHGC-59707;st362c2-72j1 MGC41862 OTTHUMP00000115646;OTTHUMP00000115647;OTTHUMP00000217481;ras-related protein Rab-28 APPROVED protein-coding ENSG00000157869 9768 06699 612994 REVIEWED 68446 RAB2A RAB2A, member RAS oncogene family The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 q12.1 61592113 61696183 + 61429469 61536203 + 2302393;2302395;2302397;2306494;6480464 17717074;17629673;18570632;18171431 2501306;8910601;18187231;17716866;17081065;16189514;15489334;15485821;14570876;12477932;12376746;11739401;10996854;10512627;9792283;9110174;8619474;3057444;1648736;16923123;17207965;16034420;20308991;16344560;22939629;21501366;20639865;21139048;21900206;21906983;22053931 5862 E9PKL7;H0YD31;H0YDL5;H7C125;P61019 ABBA01041811;ABBA01041812;ABBA01041813;AC068389;AC079065;AF070629;AF498930;AK297576;AK312344;AL137321;AMYH01018753;AMYH01018754;AW301641;AY034106;BC008929;BT019695;CH471068;DA648682;M28213;NM_001242644;NM_002865;X12953 AAA60241;AAC25389;AAH08929;AAM21078;AAV38501;ADQ32424;BAG35265;BAG59967;CAA31411;EAW86827;EAW86828;NP_001229573;NP_002856;P61019 Hs.369017 1651827;1664684;1668703;1671143;1690708;1735792;1798064;1847629;1857459;2147471 D8S1394E;D8S1405E;D8S1613;D8S1899;D8S1929;RAB2_2543;RH70011;RH92689;SHGC-31082;STS-R00195 LHX;RAB2 OTTHUMP00000165916;OTTHUMP00000165919;OTTHUMP00000229371;OTTHUMP00000229372;ras-related protein Rab-2A;small GTP binding protein RAB2A APPROVED protein-coding ENSG00000104388 9763 01539 179509 REVIEWED 1319277 RAB2B RAB2B, member RAS oncogene family Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006] 14 14 14 q11.2 1792578 1810513 - 20997023 21014961 - 21927179 21945132 - 1580863;6480464 15761153;15489334;15203218;14702039;12477932;12376746;19966785;21832049;21139048;19322201 84932 B4DUD4;E9PE37;Q6NZ33;Q8WUD1 ABBA01061251;ABBA01061252;ABBA01061253;AF091029;AF468652;AK027730;AK296057;AK300599;AK307349;AK315354;AL161747;AMYH01005595;BC020839;BC066366;BG535306;BX647601;CD634472;CH471078;NM_001163380;NM_032846;NR_028074 AAF00042;AAH20839;AAH66366;AAN86142;ABM84169;ABM87571;BAB55326;BAG37750;BAG58820;BAG62296;CAI46103;EAW66382;EAW66383;EAW66384;NP_001156852;NP_116235;Q8WUD1 Hs.22399 1796622;2167675;2171677;5015961;5016596;5022200;5022588;5022649;5022651;5037552 D11S2875;D11S2921;D14S1310;D15S1477;D5S1597E;D8S2279;GDB:631802;L18426;RAB2B_1055;WI-15637 FLJ14824 GTP-binding protein RAB2B;OTTHUMP00000195135;RAS family, member RAB2B;ras-related protein Rab-2B APPROVED protein-coding ENSG00000129472 20246 06312 607466 VALIDATED 1319882 RAB30 RAB30, member RAS oncogene family 11 11 11 q12-q14 80002232 80092649 - 82370126 82460532 - 82692478 82782884 - 1580863;6480464 9792283;15761153;15489334;12477932;8863739;22188167;22566634;20360680;21988832;23000965;23326517 27314 A8K5R1;E9PI18;E9PJQ5;E9PLM3;E9PMJ1;E9PNB9;E9PPW9;E9PQ07;E9PRF7;E9PRX0;E9PS06;H0YDK7;Q15771;Q6MZH2 ABBA01017368;ABBA01017369;AF498956;AK291376;AK310082;AK312323;AMYH01003839;AP000893;AP001767;BC014213;BX641138;CH471076;CR542106;NM_014488;U57092 AAC50774;AAH14213;AAM21104;ABM83557;ABM86797;ABW03515;BAF84065;BAG35245;CAE46061;CAG46903;EAW75078;EAW75079;EAW75080;EAW75081;NP_055303;Q15771 Hs.40758 1651125;1667473;1689161;1690330;1776439 D11S4409;RH93644;RH94130;SHGC-53256;STS-H99054 OTTHUMP00000234567;OTTHUMP00000234568;OTTHUMP00000234569;OTTHUMP00000234571;OTTHUMP00000234572;OTTHUMP00000234573;ras-related protein Rab-30 protein-coding 9770 05750 605693 PROVISIONAL 1345972 RAB32 RAB32, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB32, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Aug 2009] 6 6 6 q24.3 147605264 147616521 + 146906521 146917782 + 146864828 146876086 + 1580863;6480464 19593531;16557577;15489334;14574404;12477932;12186851;11784320;12672969;12535645;20877624;22019778;22511774;21139048;23084991 10981 Q13637 ABBA01025720;AF498958;AK312202;AL133539;AMYH01016727;BC015061;BT020016;CH471051;NM_006834;U59878;U71127 AAB02833;AAB09599;AAH15061;AAM21106;AAV38819;ABM83808;ABM87130;BAG35135;EAW47833;NP_006825;Q13637 Hs.287714 1754125;1770668;2175239 D6S2139;SHGC-132159;STS-N33379 OTTHUMP00000017369;ras-related protein Rab-32 APPROVED protein-coding ENSG00000118508 9772 06700 612906 PROVISIONAL 1344985 RAB33A RAB33A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008] X X X q26.1 129692335 129705325 + 129133454 129146525 + 129305773 129318844 + 1580863;6480464 7688322;19060904;16189514;16136464;15772651;15489334;14702039;12477932;9712825;9512502;18448665 9363 Q14088 ABBA01047900;ABBA01047901;ABBA01047902;AF498959;AK094927;AL139234;AMYH01022971;BC001157;BC001704;BC009996;BT007038;CH471107;D14889;NG_012558;NM_004794 AAH01157;AAH09996;AAM21107;AAP35687;ADZ15818;BAA03606;EAX11808;NP_004785;Q14088 Hs.654356 MGC1488;RabS10 OTTHUMP00000024006;Small GTP-binding protein S10;ras-related protein Rab-33A APPROVED protein-coding ENSG00000134594 9773 02272 300333 REVIEWED 1318074 RAB33B RAB33B, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB33B, play important roles at defined steps of vesicular transport in protein secretion and the endocytosis pathway (Zheng et al., 1998 [PubMed 9512502]).[supplied by OMIM, Feb 2010] 4 4 4 q28 137707125 137729232 + 140594411 140616520 + 140374961 140397070 + 1580863;4892310;6480464 20548331 18448665;15815621;15761153;15489334;12477932;11718716;11256614;11230166;9512502;16923123;22178446;21139048;23091056;22652534 83452 Q5U602;Q9H082 ABBA01069959;ABBA01069960;ABBA01069961;AC114743;AF350420;AK313685;AL136904;AMYH01014571;BC036064;BC111977;CH471056;NM_031296 AAH36064;AAI11978;AAL83916;AAY40936;BAG36434;CAB66838;EAX05116;NP_112586;Q9H082 Hs.591679 5022578 D1S1423 DKFZp434G099;MGC138182;SMC2 OTTHUMP00000164542;ras-related protein Rab-33B APPROVED protein-coding ENSG00000172007 16075 05808 605950;615222 PROVISIONAL 734458 RAB31 RAB31, member RAS oncogene family Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009] 18 18 18 p11.3 9592158 9746168 + 9765274 9852548 + 9708228 9862553 + 1580863;6480464;6907045 8863739;17952591;17678623;17081983;16344560;15489334;15146197;12477932;11784320;8889548;8125298;1178432;16169070;19725050;20379614;21586568;21848504;21900206;21139048;19322201;17189207;22939629;22792175;22920728 11031 J3KRU3;J3KSM8;J3QR51;Q13636 ABBA01049954;ABBA01049955;ABBA01049956;ABBA01049957;AC006238;AF183421;AF234995;AF498957;AI198863;AK223505;AK314809;AMYH01008806;AP000902;BC001148;BT020027;BT020028;BU608212;BU944638;CB243279;CH471113;CK005533;CN429637;CR407659;DA068356;NM_006868;U57091;U59877 AAB02832;AAC50773;AAG09690;AAG13847;AAH01148;AAM21105;AAV38830;AAV38831;ABM83504;ABM86720;BAD97225;BAG37334;CAG28587;EAX01595;EAX01596;NP_006859;Q13636 Hs.99528 1686322;1734562;1740211;1854380;1857092;2135878;2153916;2172115;2174129;5120431;7186594 D18S1072;D18S1226;D18S362E;D18S907E;D18S923E;GDB:315753;RH17881;RH69934;RH70486;SHGC-34486 Rab22B gtp-binding protein rab0;ras-related protein Rab-22B;ras-related protein Rab-31 APPROVED protein-coding ENSG00000168461 9771 05751 605694 VALIDATED 1312361 RAB37 RAB37, member RAS oncogene family Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006] 17 17 17 q25.1 69260244 69336655 + 70178865 70255069 + 72667256 72743474 + 737633;1580863;6480464 12477932 15308636;19148500;18687502;16189514;15489334;14702039;12665801;12578829;10722846;16344560;20031577;22178446;23000965;23372429 326624 A8MSP2;A8MTC6;A8MZI4;B7Z3L0;Q96AX2 ABBA01028827;ABBA01028828;ABBA01028829;ABBA01028830;ABBA01028831;ABBA01028832;ABBA01028833;AC016888;AC064805;AK054846;AK057069;AK098068;AK127073;AK290202;AK296062;AK296172;AK303442;AMYH01008626;BC016615;BC040547;CH471099;DA164538;NM_001006638;NM_001163989;NM_001163990;NM_175738 AAH16615;AAH40547;BAC05227;BAF82891;BAG51433;BAG51857;BAG54434;BAH12246;BAH12272;BAH13962;EAW89177;EAW89178;EAW89179;EAW89180;EAW89181;EAW89182;NP_001006639;NP_001157461;NP_001157462;NP_783865;Q96AX2 Hs.351413 1298312;1653658;1683737;1723241;2121546;2145994 D17S1301;D17S625;D17S709;G10539;RH122307;RH92683 FLJ30284;FLJ32507 OTTHUMP00000165790;OTTHUMP00000165791;OTTHUMP00000165792;OTTHUMP00000165793;OTTHUMP00000165794;OTTHUMP00000165795;OTTHUMP00000165796;OTTHUMP00000233797;OTTHUMP00000233798;OTTHUMP00000233799;OTTHUMP00000233800;RAB37, member of RAS oncogene family;Rab37-like;ras-related protein Rab-37 APPROVED protein-coding ENSG00000172794 30268 06702 609956 VALIDATED 1312861 RAB34 RAB34, member RAS oncogene family This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. This gene overlaps and shares exon structure with the nine-amino acid residue-repeats (NARR) gene, which encodes a functionally distinct nucleolar protein from a different reading frame. [provided by RefSeq, Jan 2012] 17 17 q11.2 24065430 24069013 - 27041299 27045286 - 1580863;6480464 16923123;18005733;17881736;16473629;16344560;16303743;16138900;15996637;15761153;15489334;14702039;14668488;12684051;12477932;12475955;12446704;1752434;16712791;19641095;19961360;18239623;19279100;19531230;21586586;21783985;21139048;21890473;21987572;21963094;23000965;23453885 83871 A8MYQ9;B4DNC0;C9JBG0;C9JY26;E7ES60;H7C0Y7;J3KQW8;J3QLC6;K7EIF2;K7EJW7;P0DI83;Q96PJ7;Q9BZG1 ABBA01015048;AC010761;AF322067;AF327350;AJ277106;AK027312;AK074689;AK297850;AK304633;AMYH01008282;BC016841;BC066904;BC091510;BG251677;BG749591;BI523728;BT006702;CB111417;CB127976;CB136913;CH471159;CQ783588;CX788239;DA070520;NM_001142624;NM_001142625;NM_001144942;NM_001144943;NM_001256276;NM_001256277;NM_001256278;NM_031934 AAH16841;AAH66904;AAH91510;AAK09397;AAL05587;AAP35348;ABM84682;ABM92207;BAB55034;BAC11141;BAG60182;BAG65412;CAC81760;CAF86756;EAW51127;EAW51128;EAW51129;EAW51130;NP_001136096;NP_001136097;NP_001138414;NP_001138415;NP_001243205;NP_001243206;NP_001243207;NP_114140;Q9BZG1 Hs.301853 2154738;2219594 RAB34_2750;SHGC-31989 RAB39;RAH OTTHUMP00000163525;OTTHUMP00000163526;OTTHUMP00000163527;OTTHUMP00000163528;OTTHUMP00000163529;OTTHUMP00000163530;OTTHUMP00000210641;OTTHUMP00000210642;OTTHUMP00000210643;OTTHUMP00000210644;OTTHUMP00000210646;nine amino-acid residue-repeats;ras-related protein Rab-34;ras-related protein Rab-39;ras-related protein Rah APPROVED protein-coding ENSG00000109113 16519 06701 610917 REVIEWED 1314936 RAB35 RAB35, member RAS oncogene family 12 12 12 q24.31 120166012 120187759 - 119017286 119038982 - 120532899 120554643 - 1580863;6480464 7811277;16950109;18450757;17081065;16600182;16541075;15489334;14702039;12477932;16169070;14968112;15342556;19729655;20379614;20877624;22226746;21674799;21832049;21706022;22065758;21987572;22178446;21139048;21906983;22072793;19738201;20360680;21565611;21963094;23000965;23246001;18448665;21853274;22505724 11021 F5H157;F5H7F8;G5E9K9;Q15286 ABBA01020094;ABBA01020095;AC004812;AF498960;AI042456;AK001309;AK125543;AK298391;AK300127;AK304620;AK312538;AMYH01004797;AMYH01004798;BC015931;BC017753;BM467132;BP303346;BQ233709;BT020024;CH471054;CR536486;CR541683;CS174348;DC349830;DC370610;DC408044;JA417755;NM_001167606;NM_006861;X79781 AAC83182;AAH15931;AAM21108;AAV38827;ABM84676;ABM92203;ABM92220;BAG35437;BAG60626;BAG61918;BAG65402;CAA56177;CAG38725;CAG46484;CAJ34551;CCD32725;EAW98163;EAW98164;NP_001161078;NP_006852;Q15286 Hs.524788 1670185;1681492;1688572;1796624;2159688 G29084;RAB35_771;RH91346;RH98593;WI-16071 H-ray;RAB1C;RAY GTP-binding protein RAY;OTTHUMP00000240256;OTTHUMP00000240257;OTTHUMP00000240258;OTTHUMP00000240259;ras-related protein Rab-35;ras-related protein rab-1c (GTP-binding protein ray) protein-coding ENSG00000111737 9774 05010 604199 VALIDATED 1347973 RAB36 RAB36, member RAS oncogene family 22 22 22 q11.22 7302063 7321070 + 21817513 21836531 + 23487513 23506531 + 1580863;6480464 9920784;16021519;15489334;15461802;12477932;11076863;10607907;10591208;19961360;22637480;16923123;20360680 9609 H7C0Z1;O95755 AB023061;ABBA01055103;AC000029;AC000102;AF133588;AK296052;AMYH01012640;AY336745;BC017436;BC104989;BC104991;BE886845;CH471095;CR456553;NM_004914 AAF02485;AAI04990;AAI04992;AAI11853;AAQ16115;BAA75195;BAG58816;CAG30439;CAK54584;CAK54883;EAW59561;EAW59562;NP_004905;O95755 Hs.369557 2125985;5015404;5016478;5021228;5022200;5022578;5037552 D1S1423;D8S2279;GDB:312794;GDB:434012;L17705;L18426;STS-H69004 OTTHUMP00000197912;OTTHUMP00000197913;ras-related protein Rab-36;small GTP-binding protein Rab36 protein-coding ENSG00000100228 9775 05743 605662 VALIDATED 734295 RAB38 RAB38, member RAS oncogene family 11 11 11 q14 86723503 86785679 + 87486079 87548247 - 87846415 87908635 - 1580863;1357409;6480464 15758045 12850305;10910072;19010793;18477474;17081065;15761153;15489334;12643545;12477932;11337364;20103624;21832049;21139048;22511774;23084991 23682 H0YDB7;H0YEA4;P57729 ABBA01011539;ABBA01011540;ABBA01011541;AF136172;AF235022;AL546159;AMYH01003862;AP001642;AP005436;BC015808;BT009842;CH471185;DQ178619;NM_022337 AAG30731;AAH15808;AAP88844;AAP97262;ABA03166;ABM82052;ABM85231;EAW59365;EAW59366;NP_071732;P57729 Hs.591975 1666821;1687554;1737045;1756887;2108885;2126330 D11S2791;D11S4623;RAB38_243.2;RH93854;SHGC-144052;STS-N33002 NY-MEL-1;rrGTPbp OTTHUMP00000235620;OTTHUMP00000235622;Rab-related GTP-binding protein;melanoma antigen NY-MEL-1;rab38, member of ras oncogene family;ras-related protein Rab-38 protein-coding ENSG00000123892 9776 05889 606281 VALIDATED 732895 RAB3C RAB3C, member RAS oncogene family RAB proteins, such as RAB3C, are small GTPases implicated in the regulation of vesicular trafficking between membrane compartments (Cheng et al., 2002 [PubMed 12296628]).[supplied by OMIM, Jun 2009] 5 5 5 q13 54817320 55087837 + 57914696 58183163 + 57878939 58147406 + 737633;1580863;6480464 12477932 18029348;19240061;15489334;15159548;12578829;12296628;12167638;8543030;19717423;20379614;21565611;23382691 115827 Q96E17 ABBA01015789;ABBA01015790;AC008852;AC016642;AC034250;AMYH01015101;AY026936;BC013033;CH471123;NM_138453 AAH13033;AAK08968;EAW54978;EAW54979;NP_612462;Q96E17 Hs.482173 1340855;1650754;1671521;1682678;1756587;2139276 D5S2028;G16060;L28251;RH65369;RH79742;SHGC-143625 OTTHUMP00000122555;ras-related protein Rab-3C APPROVED protein-coding 30269 06704 612829 PROVISIONAL 1322661 RAB39A RAB39A, member RAS oncogene family 11 11 11 q22.3 104953680 104988614 + 107304487 107339418 + 107799277 107834208 + 1580863;6480464 9119394;15489334;12477932;16923123;19833722;20379614;21832049;21139048 54734 Q14964 ABBA01039873;ABBA01039874;AK292969;AMYH01004019;AMYH01004020;AP001024;AP003307;BC028064;CH471065;NM_017516;X99962 AAH28064;ADZ15851;BAF85658;CAA68227;EAW67100;NP_059986;Q14964 Hs.354906 1732277;1798066 D11S1828;RAB39_2302 RAB39 OTTHUMP00000232736;RAB39, member RAS oncogene family;rab-39;rab-related GTP-binding protein;ras-related protein Rab-39A APPROVED protein-coding ENSG00000179331 16521 11470 PROVISIONAL 735498 RAB3A RAB3A, member RAS oncogene family 19 19 p13.2 18168611 18175839 - 18307611 18314874 - 1580863;2311087;6480464 19295123 10859313;18029348;9194562;18559336;17625073;16584842;16099449;15489334;15159548;15057824;15005721;12937130;12590134;12578829;12535645;12477932;12244319;12176990;12051743;11884041;11846002;11809763;11773082;11563859;11516400;11377421;11134008;10574328;10511453;10025402;9341137;9013620;8889548;8706741;8432525;8226995;7991565;7532276;2687157;2501306;1648736;11343654;14734538;20029029;12750892;11865063;19546222;19923287;8071310;8294464;8636125;16722236;21349835;15854772;21163940;22753498;15207266 5864 M0R257;P20336 ABBA01051251;ABBA01051252;AC068499;AF157809;AF254795;AF498931;AK289559;AK293467;AMYH01009586;BC011782;BM717329;CH471106;DB497194;M28210;NM_002866 AAA60242;AAD46811;AAF67385;AAF67748;AAH11782;AAM21079;ACE86740;ACE87426;BAF82248;BAG56961;EAW84672;EAW84673;EAW84674;NP_002857;P20336 Hs.27744 1659004;1796626;1853032;2146064 RAB3A_1804;RH71434;STS-H95222;WI-22566 OTTHUMP00000174429;RAS-associated protein RAB3A;ras-related protein Rab-3A protein-coding ENSG00000105649 9777 01535 179490 VALIDATED 1354105 RAB39B RAB39B, member RAS oncogene family This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. [provided by RefSeq, Jul 2008] X X X q28 154646041 154652367 - 154140720 154147046 - 154487526 154493852 - 1580863;6480464;7240710 11230166;11256614;18029348;16381901;15772651;15489336;15489334;14702039;12477932;12438742;16923123;11076863;20159109;23000965;21139048;22318606;22505724 116442 Q96DA2 ABBA01029135;ABBA01029136;AK056209;AL356738;AL834460;AMYH01023323;AY052478;BC009714;BX108796;BX682237;CH471172;NG_012626;NM_171998 AAH09714;AAL12244;CAD39120;CAI41468;CAL38722;EAW72626;NP_741995;Q96DA2 Hs.632832 2122415 A007I18 MRX72 OTTHUMP00000024247;ras-related protein Rab-39B APPROVED protein-coding ENSG00000155961 16499 06703 300271;300774 REVIEWED 1354248 RAB3IL1 RAB3A interacting protein (rabin3)-like 1 This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012] 11 11 11 q12.2 58999997 59020222 - 61421349 61441573 - 61664773 61684997 - 6480464 16189514;12477932;11516400;19060904;21829377;22359512;19088252;23362303 5866 E9PK89;H0YD19;Q8TBN0 AA865861;ABBA01003208;AF084557;AMYH01003685;AP006260;BC022239;BC051820;BQ946081;CH471076;DR004757;NM_001271686;NM_013401 AAF28399;AAH22239;AAH51820;ABM82110;ABM85292;EAW73979;EAW73980;EAW73981;NP_001258615;NP_037533;Q8TBN0 Hs.13759 1645976;1697564;2109723;2162775 D11S4706;L18044;RAB3IL1_8580;RH102292 GRAB OTTHUMP00000236102;OTTHUMP00000236103;guanine nucleotide exchange factor for Rab-3A;guanine nucleotide exchange factor for Rab3A;rab-3A-interacting-like protein 1;rab3A-interacting-like protein 1;rabin3-like 1 protein-coding ENSG00000167994 9780 10181 REVIEWED 736647 RAB3D RAB3D, member RAS oncogene family 19 19 p13.2 11296093 11311321 - 11432722 11450344 - 1580863;6480464 10023084;15489334;15257287;15159548;14566969;12578829;12477932;12192047;11903042;10072586;10022613;9178809;7532276;20877624;16344560;20038531;21163940;21702009;21832049;20360680;23505323;18448665 9545 O95716 ABBA01029860;ABBA01029861;ABBA01029862;ABBA01029863;ABBA01029864;AC011472;AC024575;AC098777;AF019226;AF081353;AF498933;AK313538;AMYH01009483;BC007960;BC016471;BC035309;BQ011121;CH471106;DA241826;FB775560;NM_004283 AAC72918;AAH16471;AAM21081;BAG36315;CAV30737;EAW84188;EAW84189;EAW84190;NP_004274;O95716 Hs.744916 1672504;1725697;1796628;5015879;5016478;5037552 D8S2279;G62051;GDB:314949;GDB:434012;HSC1UF062;RAB3D_775 D2-2;GOV;RAB16;RAD3D Rab3D upregulated with myeloid differentiation;glioblastoma overexpressed;ras-related protein Rab-3D protein-coding ENSG00000105514 9779 05070 604350 VALIDATED 736582 RAB3B RAB3B, member RAS oncogene family 1 1 p32-p31 52157420 52228936 - 52373628 52456436 - 1580863;6480464 2501306;16710414;15761153;15489334;15159548;12901864;12578829;12477932;11832247;11741295;8886977;8636125;8175882;1999336;17207965;12535645;16344560;19384079;19717423;20007772;14702039;20807725;21139048;21906983;22178446;22321395 5865 P20337 ABBA01074783;ABBA01074784;ABBA01074785;AF498932;AK002107;AK092167;AK291653;AL445685;AL589663;AMYH01000618;AU119030;BC005035;CH471059;M28214;NM_002867 AAA60243;AAH05035;AAM21080;ADQ32831;BAF84342;EAX06802;NP_002858;P20337 Hs.123072 1648252;1671466;1672149;1756385;1769375;5014051;5015619;5017433;5037552;5109281 D11S3114;D1S1425;D8S2278;D8S2279;RH36067;SHGC-143353;SHGC-36782;SHGC-74815;SHGC-74822;STS-T76997 OTTHUMP00000010299;brain antigen RAB3B;rab3b protein;ras-related protein Rab-3B protein-coding ENSG00000169213 9778 01540 179510 VALIDATED 1604828 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010] 2 2 q21.3 135526323 135644029 + 135809835 135928280 + 6480464;7240710 9030515;10859313;9852129;19077034;18286824;17567985;17081983;15696165;15489334;14702039;12786944;12477932;10532171;9733780;8249951;7584044;14593078;20562859;18029348;16344560;16923123;16484223;20512159;22863883;22990118;23383273;22768674;21139048;21890473;21906983;20686565;21979947;22876574;23176487;22337587 22930 A6H8Z3;B9A6J2;C9J1R5;C9J837;Q15042 AB449877;ABBA01028181;ABBA01028182;ABBA01028183;ABBA01028184;ABBA01028185;ABBA01028186;AC017031;AC020602;AK022494;AK056058;AK309118;AL096752;AMYH01011120;AMYH01011121;BC020303;BC022977;BC030992;BC036732;BC071602;BC146809;BP872264;CH471058;D31886;DA333844;NG_016972;NM_001172435;NM_012233 AAH22977;AAI46810;BAA06684;BAH16620;CAH56411;EAX11637;EAX11638;EAX11639;EAX11640;EAX11641;NP_001165906;NP_036365;Q15042 Hs.306327 1653188;1674218;1772461;2122645;2127228;2153734;2180006;2186473 A008U03;D2S2871;G16390;RH25298;RH67847;SGC32369;SHGC-31260;WI-17012 DKFZp434A012;KIAA0066;P130;RAB3GAP;RAB3GAP130;WARBM1 OTTHUMP00000206878;OTTHUMP00000206879;RAB3 GTPase-activating protein 130 kDa subunit;rab3 GTPase-activating protein catalytic subunit;rab3-GAP p130 APPROVED protein-coding ENSG00000115839 17063 16002 600118;602536 REVIEWED 1604372 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009] 1 1 1 q41 193540819 193665052 - 218390350 218512375 - 220321610 220445843 - 6480464;7240710 16344560;9733780;17353931;18849981;18485483;16710414;16532399;15696165;15231747;14702039;12477932;12168954;10048485;8889549;16484223;20562859;20967465;22863883;22990118;22939629;18029348;21139048;21890473;21906983;23176487;21963094;23000965;23383273;19380743;22053931;22337587 25782 F8WDJ2;H7C4Y9;Q9H2M9 AB020646;ABBA01048081;AC103590;AF004828;AF255648;AK021928;AK027485;AK291234;AL117631;AL445435;AMYH01001742;BC036513;BC098383;BC131573;BC146760;BX483077;CH471100;DA379077;N93244;NG_015837;NM_012414 AAC35881;AAG44636;AAI46761;BAA74862;BAB13939;BAF83923;BAG51330;CAB56022;EAW93304;NP_036546;Q9H2M9 Hs.654849;Hs.708165 1673664;1690728;1692796;1749665;1772995;1774140;1791596;1855262;2117510;2117512;2144537;2147775;2150627;2158057;2158569;2177179;5115059 A005E47;AL009641;AL034046;D1S3289;D1S3605;PMC116076P1;RH45736;RH69283;SHGC-111348;SHGC-23988;SHGC-24046;SHGC-31919;SHGC-53807;SHGC-76377;SHGC-76378;SHGC-76386;SHGC-76387 DKFZp434D245;FLJ14579;KIAA0839;RAB3-GAP150;RAB3GAP150;RP11-568G11.1;WARBM2;p150 OTTHUMP00000035228;RGAP-iso;rab3 GTPase-activating protein 150 kDa subunit;rab3 GTPase-activating protein non-catalytic subunit;rab3-GAP p150;rab3-GAP regulatory subunit APPROVED protein-coding ENSG00000118873 17168 11471 212720;609275;614225 REVIEWED 1349011 RAB40C RAB40C, member RAS oncogene family 16 16 16 p13.3 840134 879407 + 580177 619273 + 639357 679273 + 1580863;6480464 21145461;18485483;18391950;15616553;12477932;12076535;11697911;11157797;16169070;8889548;15601820;20360680;21890473;22993228 57799 H3BME4;H3BMH4;H3BNV8;H3BPA5;H3BPB1;H3BTC6;H3BUX0;Q5PXE8;Q6PIU5;Q96S21 ABBA01030361;AE006464;AK000584;AMYH01006998;AY823398;BC001581;BC028696;BG696681;BG715678;BM545442;BM677091;BQ685517;BX442451;CH471112;CX783728;NM_001172663;NM_001172664;NM_001172665;NM_001172666;NM_021168;Z84479;Z84779;Z98881;Z98883 AAH28696;AAK61236;AAV83924;EAW85791;EAW85792;EAW85793;EAW85794;NP_001166134;NP_001166135;NP_001166136;NP_001166137;NP_066991;Q96S21 Hs.459630 1700864;1796634;1856827;2122978;5093330;5094737 A009L31;G32656;RAB40C_1470;RH104058;SHGC-60694;TTTA028 RARL;RASL8C OTTHUMP00000045523;RAR (RAS like GTPASE) like;RAR like;RAS-like GTPase;RAS-like, family 8, member C;SOCS box-containing protein RAR3;rar-like protein;ras-like protein family member 8C;ras-related protein Rab-40C protein-coding ENSG00000197562 18285 10182 VALIDATED 1354221 RAB40A RAB40A, member RAS oncogene family This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 2010] X X X q22.1 103193700 103213438 - 102641337 102661073 - 102754681 102774417 - 1580863 12477932;16923123;15772651;15489334;14702039;12578829;12076535;11773082;11697911;21890473 142684 Q8WXH6 AB232637;ABBA01032892;ABBA01032893;AF132748;AF422143;AK056859;AL035444;AMYH01022798;BC074854;BC074855;BC113501;BC117232;CH471190;H24206;NG_017149;NM_080879;Z69733 AAH74854;AAH74855;AAI13502;AAI17233;AAL60514;AAL75949;ADR82904;BAF02899;EAW54708;NP_543155;Q8WXH6 Hs.706904 1796630;5492689 RAB40A_1663;UniSTS:482049 MGC142061;RAR2;RAR2A;Rar-2 OTTHUMP00000023745;OTTHUMP00000023746;SOCS box containing protein RAR2A;SOCS box-containing protein RAR2A;protein Rar-2;ras-related protein Rab-40A APPROVED protein-coding ENSG00000172476 18283 06705 REVIEWED 2291808 RAB40AL RAB40A, member RAS oncogene family-like This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010] X X X q22.2 102631242 102632270 + 102078856 102079884 + 102192200 102193228 + 6480464;7240710 15772651;15489334;12477932;12145744;12076535;22581972;21890473 282808 P0C0E4 ABBA01020989;AMYH01022794;BC101169;BC101170;BC101171;BC101172;NG_017150;NM_001031834;Z95624 AAI01170;AAI01171;AAI01172;AAI01173;NP_001027004;P0C0E4 Hs.449517 5493101 UniSTS:484270 MGC119958;MGC119959;MGC119960;MGC119961;MRXSMP;RAR2;RLGP OTTHUMP00000023725;Ras like GTPase;SOCS box containing protein RAR2;ras-like GTPase;ras-related protein Rab-40A-like APPROVED protein-coding ENSG00000102128 25410 300405;300519 REVIEWED 732155 RAB3IP RAB3A interacting protein 12 12 12 q15 69796326 69880688 + 68418898 68503251 + 70132631 70216984 + 6480464 7532276;12007189;16344560;16189514;15489334;14702039;12477932;12221131;8125298;123217;17207965;11743660;17574030;19060904;16461635 117177 F8VNX9;F8VTR6;H0YD03;H0YHP4;H0YI02;H0YI66;J3KPG1;Q96QF1 ABBA01026534;ABBA01026535;ABBA01026536;AC025263;AI912718;AJ312896;AJ312897;AJ312898;AJ312899;AJ312900;AJ312901;AK026201;AK027566;AK027671;AK057844;AK123728;AK225441;AK314547;AMYH01004567;AMYH01004568;AMYH01004569;AMYH01004570;AMYH01004571;AMYH01004572;AMYH01004573;AMYH01004574;AY685922;BC014553;BC015548;BC059358;BX537658;CH471054;DA211792;DA874650;DB460944;DN912041;NM_001024647;NM_001278402;NM_022456;NM_175623;NM_175624;NM_175625;NR_103519;NR_103520 AAH15548;AAH59358;AAT94123;ADQ33002;BAB15391;BAB55202;BAB55283;CAC59835;CAC59836;CAC59837;CAC59838;CAC59839;CAC59840;EAW97237;EAW97238;EAW97239;EAW97240;EAW97241;EAW97242;NP_001019818;NP_001265331;NP_071901;NP_783322;NP_783323;NP_783324;Q96QF0 Hs.258209 1340029;1645610;1703192;1733536;1739705;1755103;2135933;2154320;2179513;5015961;5024543 D12S1494;D12S43;D12S880;D15S1477;D1S3690;SGC32465;SHGC-142035;SHGC-32951;SHGC-58202;STS-N40170;WI-16968 FLJ14660;FLJ22548;MGC71495;RABIN3 OTTHUMP00000180671;OTTHUMP00000180672;OTTHUMP00000180673;OTTHUMP00000180674;OTTHUMP00000233524;OTTHUMP00000241017;OTTHUMP00000241018;OTTHUMP00000241022;SSX2 interacting protein;SSX2-interacting protein;rab-3A-interacting protein;rab3A-interacting protein;rabin 3;rabin-3 APPROVED protein-coding ENSG00000127328 16508 10565 608686 VALIDATED 1346189 RAB42P1 RAB42, member RAS oncogene family, pseudogene 1 14 14 14 q32.11 70405645 70406533 + 89427886 89428996 + 90358366 90359254 + 11181995 646996 ABBA01030511;AL137128;AMYH01005942;CH471061;NG_009574 EAW81413 RAB42;RAB42P APPROVED pseudo 19799 INFERRED 1347777 RAB41 RAB41, member RAS oncogene family This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [provided by RefSeq, May 2010] X X X q13.1 69855356 69858186 + 69418793 69421577 + 69502022 69504852 + 15772651;12477932;11697911;16086013 347517 D6REW8;Q5JT25 ABBA01067554;AI126463;AL357752;AMYH01022526;BC117239;BC143888;CH471132;NG_021267;NM_001032726 AAI17240;EAX05347;NP_001027898;Q5JT25 Hs.276327 2147556;2220004 RAB41__5630;SHGC-30005 OTTHUMP00000037883;OTTHUMP00000217399;ras-related protein Rab-41 APPROVED protein-coding ENSG00000147127 18293 REVIEWED 1313826 RAB40B RAB40B, member RAS oncogene family The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77209247 77250771 - 78208238 78249802 - 80614943 80656598 - 1580863;6480464 15489334;14702039;12477932;12076535;11697911;21145461;21832049;18187417;19159283 10966 H0YFJ5;I3L178;J3KN64;Q12829 AB209711;ABBA01019694;ABBA01019695;ABBA01019696;AC024361;AK095782;AK124376;AL047483;AMYH01008738;BC018039;BC035814;CH471099;NM_006822;U05227 AAA17031;AAH18039;BAD92948;EAW89815;NP_006813;Q12829 Hs.484068 1668978;1796632;2118645;5022651;5037552 D11S2921;D17S1986;D8S2279;RAB40B_777;RH70536 FLJ42385;RAR;SEC4L GTP-binding protein homologous to Saccharomyces cerevisiae SEC4;SOCS box-containing protein RAR;protein Rar;ras-related protein Rab-40B APPROVED protein-coding 18284 11472 REVIEWED 6906970 RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring RAB4B (RAB4B, member RAS oncogene family) and EGLN2 (egl nine homolog 2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 19 q 41284124 41314346 + 20967262;23026137;20418890;22080838 100529264 ABBA01040789;ABBA01040790;ABBA01040791;ABBA01040792;AC008537;AK291385;AMYH01009808;AMYH01009809;NR_037791 BAF84074 Hs.631539 1677218;2160477 RH93347;SHGC-64133 RERT-lncRNA APPROVED miscrna 44465 VALIDATED 1602152 RAB44 RAB44, member RAS oncogene family 6 6 6 p21.31-p21.2 38227044 38260526 + 36779991 36813461 + 36665628 36700960 + 14574404;14702039 401258 Q7Z6P3 ABBA01038266;ABBA01038267;AK125083;AMYH01016275;CH471081;DN831165;NM_001257357;Z85996 BAC86047;EAX03908;EAX03909;EAX03910;NP_001244286;Q7Z6P3 Hs.485258 FLJ43093;RASD3;RASL13;dJ431A14.3 RAS-like, family 13;RASD family, member 3;ras-related protein Rab-44 protein-coding 21068 13470 VALIDATED 1604758 RAB42 RAB42, member RAS oncogene family 1 1 1 p35.3 27314478 27316857 + 28791299 28793685 + 28918712 28921098 + 6480464 16710414;15489334;12477932 115273 Q8N4Z0 ABBA01035046;AK312176;AL513497;AMYH01000433;BC033175;CH471059;CX788289;NM_001193532;NM_152304 AAH33175;BAG35109;EAX07684;EAX07685;NP_001180461;NP_689517;Q8N4Z0 Hs.652321 5037552 D8S2279 MGC45806;RP4-669K10.6 OTTHUMP00000003787;RAB42, member RAS homolog family;putative Ras-related protein Rab-42 protein-coding 28702 14644 PROVISIONAL 1604417 RAB43P1 RAB43 pseudogene 1 16 16 16 q11.2 31164966 31169078 - 45217112 45218498 - 46656787 46660906 - 15018353;10737800;12477932 440375 ABBA01013773;AC012186;AC092368;AMYH01007640;NG_005358 RAB41P;RAB43P APPROVED pseudo 33153 INFERRED 7241118 RAB5CP1 RAB5C, member RAS oncogene family pseudogene 1 10 76183191 76183777 - 100420734 ABBA01020284;AC022026;AMYH01002835;NG_025447;NG_030484 1763887 SHGC-147556 pseudo 45104 INFERRED 7240969 RAB5CP2 RAB5C, member RAS oncogene family pseudogene 2 5 q14.3 90772228 90772837 + 133789 ABBA01062169;AC008923;AMYH01015480;NG_021889 pseudo 45106 INFERRED 1351964 RAB4A RAB4A, member RAS oncogene family This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 1 1 q42-q43 227473502 227507141 + 229406879 229440518 + 1580863;2306268;2302395;2302397;2306494;6480464;6484113;6907045 8013658;17629673;18570632;18171431 2501306;19201859;19126785;18688880;18550774;18227069;16935861;16926431;16413502;16389071;16381901;15907487;15689494;15489336;15489334;15292453;15280022;14617813;12832475;12559036;12477932;11788822;11786538;11256614;11243854;11172003;11076863;11063739;10888662;10698684;10512627;10329441;9524117;9013719;8356066;8125298;8112321;1999336;1902553;1425574;1117200;16169070;18755741;20209493;20943774;123234;12535645;16034420;17786215;19302266;19369423;19797056;20534812;21501115;19570034;19460345;21988917;22773346;21669283;10720461;20634958;21988832;22825871;23000965;18432409;23019362 5867 P20338;Q53GC2 ABBA01009819;AF498934;AK223009;AK313807;AL117350;AL162595;AMYH01001807;AMYH01001808;AY585832;BC002438;BC004309;BI546021;BI828974;BX354553;CH471098;DA712952;HY142709;M28211;NM_001271998;NM_004578;NR_073545 AAA60244;AAH02438;AAH04309;AAM21082;AAT91347;ABM83562;ABM86800;BAD96729;BAG36543;CAL37818;CAL38462;EAW69889;EAW69890;EAW69891;EAW69892;EAW69893;EAW69894;EAW69895;NP_001258927;NP_004569;P20338 Hs.296169 1674109;1767246;1778464;1796636;1849001;1850197;1850199;1856241;2106633;2134845 A003A03;A005L42;D1S2524;G20320;RAB4A_1449;RH45658;RH70076;SHGC-12949;SPHAR__5294;STS-X16660 HRES-1/RAB4;RAB4 OTTHUMP00000035740;Oncogene RAB4;RAB4, member RAS oncogene family;ras-related protein Rab-4A 2299934;2299935 PRSTS333_H;PRSTS334_H protein-coding 9781 01541 179511 REVIEWED 733928 RAB4B RAB4B, member RAS oncogene family RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009] 19 19 19 q13.2 38084575 38103255 + 45976011 45994687 + 41284124 41302849 + 6480464 15498874;15489334;12477932;10329441;12450215;19590752;17207965;20877624;22080838 53916 M0R0X1;M0R1E0;P61018;Q6PIK3 ABBA01040789;ABBA01040790;ABBA01040791;AC008537;AF165522;AF217985;AF498935;AI083750;AK024845;AMYH01009808;BC033081;BC040374;BC046927;BG706803;CH471126;NM_016154 AAD45923;AAG17228;AAH33081;AAH46927;AAM21083;ACE87040;ACE87724;ADQ32114;EAW57001;EAW57005;EAW57006;NP_057238;P61018 Hs.631539;Hs.730737 5014740;5015619;5015961;5037552 D11S3114;D15S1477;D17S610;D8S2279 FLJ78649;MGC52123 ras-related protein Rab-4B;small GTP binding protein RAB4B APPROVED protein-coding ENSG00000167578 9782 11473 612945 VALIDATED 1603859 RAB43 RAB43, member RAS oncogene family 3 3 3 q21.3 127238654 127272202 - 130289108 130323309 - 128806412 128840993 - 6480464 17684057;17562788;15489334;15018353;12477932;18664496;16344560;8889548;21832049;23000965;23589291;21680502;21139048;21906983 339122 C9JFM7;E9PBQ0;Q86YS6 ABBA01020924;ABBA01020925;ABBA01020926;ABBA01020927;AC108673;AK128345;AK291014;AMYH01013469;AMYH01013470;AY166852;BC062319;BC073812;BX331971;CA450364;CH471052;D45418;DA008447;DA103180;DA317502;DA339537;DA757569;DB220260;NM_001204883;NM_001204884;NM_001204885;NM_001204886;NM_001204887;NM_001204888;NM_198490 AAH62319;AAO17291;BAF83703;EAW79283;NP_001191812;NP_001191813;NP_001191814;NP_001191815;NP_001191816;NP_001191817;NP_940892;Q86YS6 Hs.381132;Hs.512661;Hs.546542 1771861 SHGC-77331 ISY1;MGC90481;RAB11B;RAB41 OTTHUMP00000174305;OTTHUMP00000174306;OTTHUMP00000174307;OTTHUMP00000174308;OTTHUMP00000174309;OTTHUMP00000217104;ras-related protein Rab-41;ras-related protein Rab-43 protein-coding ENSG00000172780 19983 17947 VALIDATED 1315136 RAB5B RAB5B, member RAS oncogene family 12 12 q13 54654129 54674757 + 56367697 56390467 + 6480464;6907045 10491193;1541686;11256614;18445495;18198356;17927960;17081065;16381901;15489336;15489334;12972505;12493736;12477932;11733506;11703925;11230166;11076863;10403367;9918381;8666383;7789520;10329441;12535645;19723633;20526340;22939629;16344560;21139048;19322201;16923123;22885925;21988832;22951725;23000965 5869 F8VPW9;F8VUA5;F8VVZ0;F8VWZ7;P61020 ABBA01008397;AC034102;AF267863;AF498937;AK292597;AK296517;AK307468;AMYH01004497;BC032740;BC040143;BC050558;BC056422;BC065298;BX537408;BX647808;CH471054;CR536482;CR541690;DA401343;DA811144;NM_001252036;NM_001252037;NM_002868;X54871 AAG44732;AAH32740;AAH40143;AAH50558;AAH56422;AAH65298;AAM21085;BAF85286;BAG59149;CAA38653;CAD97650;CAG38721;CAG46491;CAL38406;EAW96862;EAW96863;EAW96864;NP_001238965;NP_001238966;NP_002859;P61020 Hs.157659 1678199;1684524;1685930;1690332;1795550;5022651;5037552 CDK2_529;D11S2921;D8S2279;RH44840;RH70905;RH79166;RH98226 OTTHUMP00000241848;OTTHUMP00000241849;OTTHUMP00000241854;ras-related protein Rab-5B protein-coding 9784 01544 179514 VALIDATED 1316083 RAB5C RAB5C, member RAS oncogene family Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010] 17 17 17 q21.2 36932032 36962339 - 37530523 37560548 - 40276994 40307062 - 1580863;6480464;6907045 8646882;18029348;17081065;12493736;12477932;10768959;10329441;9852039;7951316;17353931;12972505;16923123;21319273;11733506;22939629;21832049;15342556;14741744;20360068;21139048;21890473;21906983;21987572;22734003;22505724 5878 F8VSF8;F8VVK3;F8VWU4;K7ENY4;P51148 ABBA01006435;ABBA01006436;AC003104;AC099811;AC105024;AF141304;AF498938;AK310234;AL553867;AMYH01008391;BC106039;BC114439;BI963743;BM424166;BM550607;BP222378;BT019484;CH471152;CR541901;NM_001252039;NM_004583;NM_201434;U11293;U18420 AAA74081;AAB08927;AAF66594;AAI06040;AAI14440;AAM21086;AAV38291;ACE86766;ACE87452;CAG46699;EAW60805;EAW60806;EAW60807;EAW60808;NP_001238968;NP_004574;NP_958842;P51148 Hs.650382 1729841;1730147;1730948;1736908;1769514;1852153;2133356;2174945;2217890;5022578;7184671 D17S1564;D17S2018;D17S648;D17S821E;D17S856;D1S1423;D6S2066;G10717;RAB5C_3324;RH78944 L1880;MGC117217;MGC138857;RAB5CL;RAB5L;RABL L1880;OTTHUMP00000241915;OTTHUMP00000241916;RAB, member of RAS oncogene family-like;RAB5C, member of RAS oncogene family;RAB5L;ras-related protein Rab-5C APPROVED protein-coding ENSG00000108774 9785 04947 604037 VALIDATED 1342715 RAB5A RAB5A, member RAS oncogene family 3 3 p24-p22 19963760 20001647 + 19988572 20026667 + 1580863;2302395;2306494;4892310;6480464;6484113;6907045 17629673;18171431;20548331 22341461;16923123;18755741;19126785;19118546;19032933;18982021;18974049;18957427;18725540;18005733;17611268;17581628;17524504;17473071;17301152;17301141;17173037;17081065;16554017;16381901;15782196;15489336;15489334;15388334;15328530;15078902;15023538;15014045;14669515;14644159;14617813;14600265;12972505;12761223;12668728;12612085;12477932;12433916;12432064;12359748;12034881;11884531;11792815;11703925;2501306;9697774;15016378;14613930;8521472;19372461;11682489;11536198;11099046;11076863;11062261;10818110;10722846;10512627;10491193;10329441;9730828;9045618;8831575;8294464;7991565;1999336;1516130;11788822;11733506;11718716;9524117;11493665;12147258;12832475;14665628;19913121;20412119;20628086;20457610;20472552;16890161;20558162;16754960;20926780;15377662;15378032;16034420;16902405;17353931;17403676;19656886;19723633;19759177;19819222;19830447;19923319;20376209;20847427;14978216;19460345;21895870;21203429;21423773;19966785;21640764;21835792;22942286;16622416;22768177;22939629;21104291;21655223;21849022;21987812;18781797;21139048;21500550;22178872;22558309;21669283;10720461;19322201;19398555;22547071;22833562;23086000;16354686;21890473;21963094;21987572;21988832;22952906;23000965;23434372;23182941;23291133;15207266;19620308;22505724;23048039;23536683;23824909 5868 B4DJA5;C9J3X8;F8WCY6;F8WD79;P20339 ABBA01025093;ABBA01025094;AC097635;AF464088;AF498936;AK295992;AK309287;AK312618;AMYH01013012;BC001267;BC018288;BJ991078;CH471055;CR536492;DC330362;M28215;NM_004162 AAA60245;AAH01267;AAH18288;AAM21084;AAO15677;ABM82716;ABM85898;BAG35504;BAG58767;CAG38731;CAL37675;CAL37879;EAW64301;EAW64302;EAW64303;NP_004153;P20339 Hs.475663 1680256;1735316;1739819;1796638;1849398 D3S2948E;D3S3483E;HSC13E052;RAB5A_779;RH91784 RAB5 OTTHUMP00000160334;OTTHUMP00000207855;RAS-associated protein RAB5A;ras-related protein Rab-5A protein-coding ENSG00000144566 9783 01542 179512 VALIDATED 1320484 RAB6A RAB6A, member RAS oncogene family This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 q13.3 73064331 73149849 - 73386683 73472201 - 1580863;6480464 2501306;12391317;11121396;15229288;18044744;17716866;17699596;17681140;17573808;16683916;16536738;16473624;16395330;16381901;16332443;16189514;15878329;15747776;15489336;15489334;15483056;15128430;14702039;12738866;12477932;12447383;12401177;12051743;11929610;11230166;11076863;11071909;11054569;10996854;10329441;10209123;10202141;9438855;9110174;8889548;8619474;8356066;8294464;8175798;8125298;2112230;1999336;11718716;22124028;20562865;16902405;18243103;19141279;19632984;19703403;21411515;21035342;23091056;21543860;23569112;7782346;21596566;22335553;21139048;21890473;19322201;22750005;20360680;23251661;18187620;22607032 5870 F5GX61;F5H3K7;H0YGL6;H7BYW1;P20340;Q53ET8 ABBA01017505;ABBA01017506;ABBA01017507;ABBA01017508;ABBA01017509;ABBA01017510;AF052130;AF091030;AF119836;AF130122;AF130986;AF198616;AF498939;AF498941;AK057157;AK223551;AK289748;AK290132;AK299639;AK301534;AK309311;AMYH01003805;AMYH01003806;AMYH01003807;AMYH01003808;AMYH01003809;AP002770;AP002993;BC003617;BC034996;BC068486;BC096818;BI545554;BI552973;BQ422263;BT019698;BU685989;CB067721;CB989138;CH471076;CR541984;DQ437503;M28212;NG_029821;NM_001243718;NM_001243719;NM_002869;NM_198896 AAA60246;AAD25535;AAD27707;AAF00043;AAF23593;AAF73841;AAH03617;AAH68486;AAH96818;AAM21087;AAM21089;AAV38504;ABD93919;ACE87797;ACT64395;BAB71371;BAD97271;BAF82437;BAF82821;BAH13085;BAH13508;CAG46781;CAL37813;CAL38456;CAL38606;CAL38679;EAW74907;EAW74908;EAW74909;EAW74910;EAW74911;EAW74912;NP_001230647;NP_001230648;NP_002860;NP_942599;P20340 Hs.503222;Hs.591552 1644201;1722315;1734740;2118048;2128704;2136098;2148647;5110615;5113756;5122205;5124061 A007D11;D2S1527E;G60223;HSC1HH102;RH15940;RH64887;RH65877;RH71435;WI-17776;WI-21096;WIAF-2089 RAB6;RAB6A';RAB6B GTP-binding protein RAB6A';GTP-binding protein RAB6B;OTTHUMP00000165966;OTTHUMP00000165967;OTTHUMP00000237641;OTTHUMP00000237642;OTTHUMP00000237643;OTTHUMP00000237666;Oncogene RAB6;RAB6, member RAS oncogene family;Rab GTPase;Rab6A variant 3;rab-6;ras-related protein Rab-6A APPROVED protein-coding ENSG00000175582 9786 01543 179513 REVIEWED 1354322 RAB6C RAB6C, member RAS oncogene family 2 2 q21.1 130453705 130456781 + 130737235 130740311 + 1580863;6480464 10455022;11054569;18992151;17426708;16267028;15489334;14702039;12477932;12007787;11230166;9847074;19851296;20064528;20198315;22939629;22949199 84084 Q9H0N0 ABBA01040141;AC079776;AF124200;AF309646;AK055504;AL136727;AMYH01011041;BC120998;BC120999;CH471058;CH471103;CR533469;NM_032144 AAF28422;AAI21000;AAN39685;AAY15045;CAB66661;CAG38500;EAW95362;EAX11700;NP_115520;Q9H0N0 Hs.591552 1644201;1734740;2118048;5110615;5113756;5124061 A007D11;D2S1527E;RH15940;RH64887;RH71435;WI-21096 WTH3 OTTHUMP00000203985;rab6-like protein WTH3;ras-related protein Rab-6C protein-coding ENSG00000222014 16525 15201 612909 VALIDATED 1320580 RAB6B RAB6B, member RAS oncogene family 3 3 3 q22.1 131968881 132040477 - 135025769 135097381 - 133543079 133614691 - 1580863;6480464 10893188;18044744;22610502;17707369;16790928;16344560;15489334;14702039;12477932;9030196;11929610;15761153;17474147;20379614;16751776;22178446;21139048;20360680 51560 B7Z337;C9J0I2;C9JB90;C9JU14;J3KR73;Q9NRW1 AB073348;ABBA01059163;AC080128;AF091031;AF166492;AF498940;AK055102;AK295451;AK312378;AMYH01013511;BC002510;BC036864;BC063556;BC078662;BT007263;CH471052;DA221889;DQ600152;NM_016577;U66623 AAC51198;AAF00044;AAF61637;AAH02510;AAH78662;AAM21088;AAP35927;ACE87057;BAG35296;BAH12073;EAW79158;EAW79159;NP_057661;Q9NRW1 Hs.743968 1671122;1707956;1764181;1768159;1854982;2176553;2183978;2217892 HSC25E012;RAB6B_2762;RH11770;SHGC-147819;SHGC-2364;SHGC-84639;T03553;WI-15336 OTTHUMP00000216369;OTTHUMP00000216372;ras-related protein Rab-6B;small GTP-binding protein;small GTPase RAB6B protein-coding ENSG00000154917 14902 11474 VALIDATED 3207435 RAB9AP1 RAB9A, member RAS oncogene family pseudogene 1 Y q11.223 25897335 25897901 + 100287200 ABBA01008100;AC016752;NG_004755 pseudo 38104 VALIDATED 3129513 RAB9AP2 RAB9A, member RAS oncogene family pseudogene 2 Y q11.23 27856058 27859704 - 100287542 AC010682;NG_004755 APPROVED pseudo 38106 VALIDATED 3129499 RAB9AP3 RAB9A, member RAS oncogene family pseudogene 3 Y q11.23 28064476 28065042 - 100287577 AC007965;NG_004755 APPROVED pseudo 38107 VALIDATED 2923057 RAB9AP4 RAB9A, member RAS oncogene family pseudogene 4 Y q11.222 20811532 20812654 + 100288397 AC022486;NG_004636 APPROVED pseudo 38108 VALIDATED 3207433 RAB9AP5 RAB9A, member RAS oncogene family pseudogene 5 Y q11.223 26102716 26106362 + 100287234 AC073893;NG_004755 APPROVED pseudo 38109 VALIDATED 1350755 RAB8B RAB8B, member RAS oncogene family RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010] 15 15 15 q22.2 40361335 40438724 + 61268781 61347028 + 63481728 63559975 + 737633;1580863;2302397;6480464 12477932;18570632 9030196;18772196;15489334;14702039;12639940;12221131;10889189;8799816;17474147;20877624;17207965;21832049;22178446;18346465;21139048;21890473 51762 F5GY21;H0YL94;H0YLJ8;H0YMN7;H0YNE9;Q92930 AB038995;ABBA01038914;ABBA01038915;ABBA01038916;ABBA01038917;AC016207;AK001111;AK095444;AK297598;AL133607;AL833365;AMYH01006702;BC020654;BG721755;CH471082;NM_016530;U66624 AAC51199;AAH20654;ADQ32276;BAA92249;BAG50856;BAG53055;BAG59983;CAI46143;EAW77641;EAW77642;NP_057614;Q92930 Hs.389733 1657516;1668224;1690001;2219596 G09506;RAB8B__5633;RH66341;RH99155 FLJ38125 OTTHUMP00000163760;RAB-8b protein;ras-related protein Rab-8B APPROVED protein-coding ENSG00000166128 30273 11476 613532 VALIDATED 1343252 RAB9BP1 RAB9B, member RAS oncogene family pseudogene 1 5 5 5 q21.2 100378574 100379198 + 104463074 104463698 + 104435175 104435799 + 9126495 9366 ABBA01069133;AC091987;AMYH01015523;NR_000039;U44105 Hs.158296 1796642;2136241 RAB9A_1416;RH18066 RAB9P1 APPROVED pseudo ENSG00000232159 9793 VALIDATED 736472 RAB7L1 RAB7, member RAS oncogene family-like 1 1 1 1 q32 178873347 178880842 - 204004301 204010747 - 205737114 205744610 - 1580863;6480464 9284931;15231747;16344560;15489334;14720509;12477932;8125298;19915576;21812739;20683486;22232350;21139048;21963094;23395371;23269536;23449627 8934 B2R7I9;E9PL56;O14966;Q6FGU7 ABBA01027406;AC119673;AK223514;AK303879;AK308359;AK311085;AK313000;AMYH01001675;BC002585;BT019540;BX647960;CF528995;CH471067;CR542010;D84488;DA284582;DA377295;DC314882;DC365059;NM_001135662;NM_001135663;NM_001135664;NM_003929 AAH02585;AAV38347;ABM82843;ABM87837;ABW03455;BAA22160;BAD97234;BAG35836;BAG64815;CAG46807;EAW91580;EAW91581;NP_001129134;NP_001129135;NP_001129136;NP_003920;O14966 Hs.115325 2109725;2163201;5015619;5037552 D11S3114;D8S2279;RAB7L1__6957;SHGC-76255 DKFZp686P1051;RAB7L OTTHUMP00000034232;OTTHUMP00000034233;OTTHUMP00000034234;OTTHUMP00000228585;OTTHUMP00000228586;rab-7-like protein 1;ras-related protein Rab-7L1 protein-coding ENSG00000117280 9789 11962 603949 VALIDATED 1346465 RAB7B RAB7B, member RAS oncogene family 1 q32 179083656 179111173 - 1580863;6907045;6480464 20375062;16344560;15489334;15144907;14702039;12477932;8889548;21832049;20953574;12972561;18552835;19451649;20012524;20459747;22708738 338382 Q96AH8 ABBA01000533;ABBA01000534;ABBA01000535;AK122657;AK127140;AMYH01025387;AMYH01025388;AY094596;BC007382;BC017092;BI757251;BM671066;BX364514;CH471067;DA966224;NM_001164522;NM_177403 AAH17092;AAM22519;EAW91589;EAW91590;EAW91591;NP_001157994;NP_796377;Q96AH8 Hs.534612 1697846 RH102450 MGC16212;MGC9726;RAB7 Ras-related protein Rab-7;ras-related protein Rab-7b protein-coding 30513 15202 VALIDATED 1351789 RAB7A RAB7A, member RAS oncogene family RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008] 3 3 q21.3 129927669 130016331 + 128444979 128533641 + 1580863;4892310;6480464;6484113;6907045 20548331 8954989;17353931;2115402;18029348;15078902;19651702;19580780;19564404;19392663;19372461;18974300;18955491;18501189;18272684;18039930;17625594;17081065;16965270;16631113;16396496;16344560;16282324;16176980;15996637;15933719;15681833;15592455;15489334;15455439;15340014;15186776;15099588;14702039;14668488;14644159;12972561;12944476;12850305;12643545;12576024;12545426;12477932;12071695;12054610;12034881;11675392;11591706;11179213;11141079;10679007;10491170;10329441;9918381;9792283;9585432;9563513;9428630;9126495;8910576;8702787;8125298;11448994;15809346;20720181;22638108;23188822;20974968;16925951;17540176;19956673;20028791;20363736;20472552;14998988;20847427;22768177;22939629;20301532;21800051;21438969;21669283;14617358;18781797;19460345;21987572;19738201;19805454;22304920;23000965;23536683;23824909;21139048;21890473;21906983;21963094;22115783;22072966;22496312;20301462;19322201;18552835;23383273;23179371;23562278;20709679;19451649;19620308;20012524;20459747;22053931;22505724;22673115 7879 C9IZZ0;C9J4S4;C9J4V0;C9J592;C9J7D1;C9J8S3;P51149 ABBA01020911;ABBA01020912;ABBA01020913;AC023598;AC079945;AC117508;AC139617;AF050175;AF119891;AF498942;AK026136;AK094449;AK225177;AK225691;AK290721;AK298344;AK308934;AL162009;AMYH01013467;AMYH01013468;AU122058;BC008721;BC013728;BX537775;CA748697;CH471052;CQ766813;NG_008070;NM_004637;U44104 AAA86640;AAD02565;AAF69645;AAH08721;AAH13728;AAM21090;BAF83410;BAG60591;CAD97836;CAF33077;EAW79302;NP_004628;P51149 Hs.744853 1648794;1735200;1778349;1796640;1855350;2118625;2123994;5491989 D3S2861E;D3S3116;D3S3901;RAB7A;RAB7_1563;RH47167;SHGC-77328;STS-H69522 FLJ20819;PRO2706;RAB7 OTTHUMP00000216577;OTTHUMP00000216578;OTTHUMP00000216579;OTTHUMP00000216583;RAB7, member RAS oncogene family;Ras-associated protein RAB7;ras-related protein Rab-7a APPROVED protein-coding ENSG00000075785 9788 03805 602298 REVIEWED 1354512 RAB8A RAB8A, member RAS oncogene family The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008] 19 19 p13.1 16083490 16105445 + 16222490 16244445 + 2302393;2306295;2302395;2302397;2306494;6480464 17717074;18701652;17629673;18570632;18171431 17353931;17574030;19304576;18772192;18724065;18714005;17646400;17597763;17507647;17332756;17081983;17050734;15489334;12639940;12578829;12477932;12221131;11773082;11137014;10512627;9918381;9677305;9226381;8643544;8408203;8375503;8294494;2564840;1886711;123217;12590134;12176990;16169070;22219378;15837803;20424170;16473576;16541104;16902405;19641326;20237496;20308558;20631154;20937822;22433857;22939629;23175844;21596566;20360068;21139048;21906983;22159412;22178446;23140275;22445341;19322201;20085643;20161783;20634958;23014846;23435566;21963094;22790198;23000965;23246001;22854040;15207266 4218 B4DEK7;P61006 AB209767;ABBA01051130;AC008894;AF498943;AK025165;AK293676;AMYH01009558;BC002977;BT007184;BU940750;CH471106;CR536583;CR542274;NM_005370;S53268;X56741 AAB19681;AAH02977;AAM21091;AAP35848;ABM83449;ABM86661;BAD93004;BAG57118;CAA40065;CAG38820;CAG47070;EAW84526;EAW84527;NP_005361;P61006 Hs.642874 1700032;2110691;2125414;2185812 RAB8A_8465;RH103628;RH78768;SHGC-36999 MEL;RAB8 mel transforming oncogene (RAB8 homolog);mel transforming oncogene (derived from cell line NK14);mel transforming oncogene (derived from cell line NK14)- RAB8 homolog;oncogene c-mel;ras-associated protein RAB8;ras-related protein Rab-8A APPROVED protein-coding 7007 01296 165040 VALIDATED 5130581 RABEPKP1 Rab9 effector protein with kelch motifs pseudogene 1 13 13 52772405 52773412 + 71870357 71871364 + 100421226 ABBA01050324;AL162212;AMYH01005197;NG_024937 pseudo 39791 INFERRED 1312283 RABGAP1 RAB GTPase activating protein 1 9 9 9 q34.11 96351607 96515424 + 124743138 124906531 + 125703288 125867147 + 737633;1580863;6480464 12477932 14702039;10202141;19077034;10893188;11071909;17124247;20379614;20562859;22863883;17043677;21139048;19322201;22354992 23637 B5MCD9;B7Z2B4;C9JGR5;Q9Y3P9 AA948302;AB449897;ABBA01043718;ABBA01043719;AC007066;AF088073;AF161357;AJ011679;AK022408;AK131449;AK294531;AL050195;AL358946;AL365338;AMYH01021694;AMYH01021695;AMYH01021696;BC020609;BC054492;BG622097;CH471090;NM_012197 AAF28917;AAH20609;AAH54492;BAD18594;BAH11800;BAH16640;CAB40267;CAB43313;EAW87554;EAW87555;EAW87556;EAW87557;NP_036329;Q9Y3P9 Hs.271341 1656595;1657209;1699514;1751101;1752791;1797618;2145798;2157526;2177058;2187204;5022322 D11S2560;GPR21_2093;RH103351;RH12674;RH65955;SHGC-104980;SHGC-106712;SHGC-1298;SHGC-13271;WI-11176;WI-13608 DKFZp586D2123;GAPCENA;RP11-123N4.2;TBC1D11 GAP and centrosome-associated protein;OTTHUMP00000022081;Rab6 GTPase activating protein, GAPCenA;TBC1 domain family, member 11;rab GTPase-activating protein 1;rab6 GTPase activating protein (GAP and centrosome-associated);rab6 GTPase-activating protein GAPCenA protein-coding ENSG00000011454 17155 06575 VALIDATED 1353231 RAB9B RAB9B, member RAS oncogene family This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010] X X X q22.1-q22.3 103516271 103526228 - 102966607 102973814 - 103077255 103087212 - 1580863;6480464;6907045 19490898;15772651;15489334;12477932;11043518;12051767;16204133;16344560;16140752;20012524;20459747 51209 Q9NP90 AB036693;ABBA01032861;AK313425;AL139228;AMYH01022798;BC041336;BC070069;BC093756;BC093758;CH471190;DA501604;FO393406;NG_016452;NM_016370 AAH93756;AAH93758;BAA89542;BAG36217;EAW54689;NP_057454;Q9NP90 Hs.522736 1677943;1798068;1857191;5493335 RAB9B_2548;RH99150;UniSTS:485774;WI-21742 RAB9L;Rab-9L OTTHUMP00000023763;RAB9-like protein;rab-9-like protein;ras-related protein Rab-9B APPROVED protein-coding ENSG00000123570 14090 02237 300285 REVIEWED 1344154 RABEP2 rabaptin, RAB GTPase binding effector protein 2 16 16 16 p11.2 27872792 27913272 - 28823243 28844033 - 28915742 28936532 - 737633;1580863;6480464 12477932 17254320;17205062;15489334;14702039;9524116;22863883;23314748;10720461;21890473;21906983;21963094;21988832;23000965;23128233;22505724 79874 B4DHR0;H3BMR7;H3BNR2;H3BNR8;H3BT64;H3BU67;Q9H5N1 ABBA01045683;ABBA01045684;AC109460;AK026935;AK092299;AK295229;AMYH01007478;BC027584;BC046118;BC058900;CH471267;NM_024816 AAH27584;AAH58900;BAB15594;BAG52526;BAG58222;EAW52007;NP_079092;Q9H5N1 Hs.555978 1681716;1742097;1777405;1792096;1858489 G10610;GDB:191081;PMC136845P2;RH65240;SHGC-57443 FLJ23282;FRA Rabaptin-5 beta;rab GTPase-binding effector protein 2;rabaptin-5beta protein-coding ENSG00000177548 24817 17948 611869 VALIDATED 1350613 RAB9A RAB9A, member RAS oncogene family X X p22.2 13617262 13637685 + 13707240 13727944 + 1580863;6480464;6907045 9126495;15078902;19400954;18681838;17081983;16769818;16644737;15489334;15263003;12576506;12477932;12032303;11827983;11707390;11485202;10512627;9792283;9230071;8389620;7744738;15809346;15456905;11359012;16344560;20346379;18243103;19490898;19684018;20048159;19966785;22768177;22939629;21808068;21139048;21890473;22637480;16140752;20012524;20459747;21563830;22452336 9367 P51151 ABBA01071129;AC003037;AC079383;AF498944;AK290505;AMYH01022096;BC017265;CF528703;CH471074;CR450362;DA141710;NM_001195328;NM_004251;U44103 AAC51200;AAH17265;AAM21092;ABM83750;ABM87069;BAF83194;CAG29358;EAW98826;EAW98827;EAW98828;NP_001182257;NP_004242;P51151 Hs.495704 1791153;1796642;2142586 RAB9A_1416;STS-R66378;px-37e4 RAB9 OTTHUMP00000022936;RAB9, member RAS oncogene family;ras-related protein Rab-9A protein-coding 9792 02236 300284 VALIDATED 1346664 RABEP1 rabaptin, RAB GTPase binding effector protein 1 17 17 p13.2 5126282 5229856 + 5185558 5289132 + 1580863;6480464;6907045 12042876;12505986;15143060;17353931;8521472;16407276;16344560;15324660;12477932;11788822;11718716;11387476;11129044;10747088;10698684;10608812;9742146;9524117;9045618;10458612;11452015;16473621;17506864;18029348;15378032;15457209;19500109;14636058;14973137;21271679;23314748;22863883;12938929;21078624;21139048;21890473;22558309;10720461;12858162;17341663;20682791;22939629;22975325;15328530;14617813;22841712 9135 F5H355;I3L2B8;I3L456;K7ENJ9;Q15276 AA873800;ABBA01054803;ABBA01054804;ABBA01054805;ABBA01054806;ABBA01054807;ABBA01054808;ABBA01054809;ABBA01054810;ABBA01054811;ABBA01054812;AC004148;AC015727;AC087500;AF098638;AK297535;AK310932;AK314183;AL050211;AL120839;AL157499;AMYH01008048;AMYH01008049;AMYH01008050;BC018742;BC032435;BC041700;BC065242;BI666786;BX103338;CH471108;DB169027;NM_001083585;NM_004703;X77723;X91141 AAC70781;AAH32435;AAH41700;BAG36864;BAG59936;CAA62580;EAW90343;EAW90344;EAW90345;NP_001077054;NP_004694;Q15276 Hs.592121;Hs.733301 1645795;1654110;1662988;1667671;1685916;1694426;1720955;1733660;1734428;1734454;1771364;1855256;2129033;2143093;2156528;2158818;2162505 D15S629E;D17S1367E;D17S1401E;D17S1421E;D17S1662;G42908;G59307;RH15968;RH25190;RH67786;SGC34223;SHGC-35667;STS-AA019366;STS-H59437;STS-R01262;WI-12505;WI-18700 RAB5EP;RABPT5 neurocrescin;rab GTPase-binding effector protein 1;rabaptin-4;rabaptin-5;rabaptin-5alpha;renal carcinoma antigen NY-REN-17 protein-coding ENSG00000029725 17677 04684 603616 VALIDATED 736141 RABAC1 Rab acceptor 1 (prenylated) 19 19 q13.2 47152675 47157340 - 42460833 42463528 - 1580863;6480464 22087225;16930546;16917502;16481131;16189514;15489334;14574414;12477932;11520070;11335720;11096102;10751420;10707984;10329441;9341137;15914857;11739697;16169070;19913121;20628086;14604818;19060904;20592422;17928295;23068607;21798244;20639865;21139048;21890473;21900206;21906983;22053931;17786215 10567 M0QXH1;M0QXU8;M0R1H9;M0R3D4;Q9UI14 ABBA01040825;AC010616;AF112202;AF112996;AI376198;AJ133534;AMYH01009823;BC008950;BT019964;CF242972;CH471126;CR457214;CR542116;DB454056;NM_006423 AAF17190;AAH08950;AAP97229;AAV38767;CAB43107;CAG33495;CAG46913;EAW57086;EAW57087;EAW57088;NP_006414;Q9UI14 Hs.11417 2142883;2156102;2156104;2191503 MARC_24204-24205:1032291902:1;RH78617;SHGC-64254;STS-N36775 PRA1;PRAF1;YIP3 PRA1 domain family 1;PRA1 family protein 1;prenylated Rab acceptor 1;prenylated Rab acceptor protein 1 protein-coding ENSG00000105404 9794 05375 604925 VALIDATED 1604052 RABEPK Rab9 effector protein with kelch motifs 9 9 9 q33.3 98610755 98644425 + 127002874 127036259 + 127962821 127996438 + 6480464 9230071;16769818;15489334;15164053;14530284;12477932;18029348;20379614;21900206;21906983 10244 Q5T1S4;Q5T1S5;Q9BWB1 ABBA01043776;ABBA01043777;AK290768;AL354710;AL445930;AL832249;AMYH01021710;BC000503;BC047023;BC053541;BC065725;CH471090;CR456837;CR541851;CX758286;NM_001174152;NM_001174153;NM_005833;Z97074 AAH00503;AAH47023;AAH53541;AAH65725;ABM83178;ABM86379;BAF83457;CAB09808;CAG33118;CAG46649;CAH10393;EAW87614;EAW87615;EAW87616;EAW87617;EAW87618;EAW87619;NP_001167623;NP_001167624;NP_005824;Q7Z6M1 Hs.19012 5014019;5118444 D11S3316;D5S2354 DKFZp686P1077;RAB9P40;bA65N13.1;p40 40 kDa Rab9 effector protein;OTTHUMP00000022126;Rab9 effector p40;rab9 effector protein with kelch motifs protein-coding ENSG00000136933 16896 09337 605962 VALIDATED 1347519 RABGAP1L RAB GTPase activating protein 1-like 1 1 1 q24 147238027 148036995 + 172395257 173193950 + 174128552 174964445 + 6480464 19077034;16923123;15367492;14702039;12477932;11329013;11238933;10585558;9455484;20562859;19851296;20198315;20379614;20508983;16344560;23335107;22354992 9910 B7ZAP0;E9PNV2;E9PS63;F1LJ00;F5H8L0;Q5JZA9;Q9UQ19;Q9Y3L8 AA836500;AB007940;AB019490;AB019491;AB019492;AB019493;AB449904;ABBA01027873;ABBA01027874;ABBA01027875;ABBA01027876;ABBA01027877;ABBA01027878;ABBA01027879;ABBA01027880;ABBA01027881;ABBA01027882;ABBA01027883;ABBA01027884;ABBA01027885;ABBA01027886;AF279778;AK074409;AK095838;AK298711;AK316219;AK316355;AL008735;AL021069;AL022171;AL022400;AL031278;AL031286;AL035303;AL049701;AL049702;AL136377;AL157958;AL161671;AL591108;AMYH01001506;AMYH01001507;AMYH01001508;AMYH01001509;AMYH01001510;AMYH01001511;AMYH01001512;AMYH01001513;AMYH01001514;AY364260;BC012094;BC018630;BC041888;BC062541;BG193682;BQ277581;CH471067;CR627374;DB087378;DB232940;NM_001035230;NM_001243763;NM_001243764;NM_001243765;NM_014857;Z99127 AAH12094;AAH18630;AAH41888;AAQ76819;ADZ15658;B7ZAP0;BAA32316;BAA77331;BAA77332;BAA77333;BAA77334;BAC04635;BAG60867;BAH14590;BAH14726;BAH16647;CAA22908;CAB41265;CAB41266;CAB76100;CAH10472;EAW90977;EAW90978;EAW90979;NP_001030307;NP_001230692;NP_001230693;NP_001230694;NP_055672;Q5R372 Hs.585378;Hs.744937 1336060;1336087;1339074;1652450;1655523;1662338;1666227;1678413;1692588;1696200;1708398;1713571;1752927;1775841;1787914;1855240;2111996;2124487;2130669;2132123;2148036;2150052;2151215;2152783;2153738;2154960;2156768;2181891;2182909;2184558;5022578;5118191;7185103;7190155;7190159 AL009481;AL009530;AL010126;AL034062;D11S3081;D1S1423;D1S1589;D1S218;D1S2253;D1S242;D1S260E;D1S3661;G31018;G35691;RH120275;RH68654;RH69743;RH98196;SHGC-106813;SHGC-173653;SHGC-34990;SHGC-37135;SHGC-75883;SHGC-75884;SHGC-75929;SHGC-75933;SHGC-75935;SHGC-75950;SHGC-79045;SHGC-82888;STS-M62010;WI-10691 DKFZp686E1450;FLJ58037;FLJ79118;FLJ79254;HHL;RP1-102G20.1;TBC1D18 OTTHUMP00000032853;OTTHUMP00000032858;OTTHUMP00000235438;OTTHUMP00000235440;OTTHUMP00000235441;TBC1 domain family, member 18;expressed in hematopoietic cells, heart, liver (HLL);rab GTPase-activating protein 1-like protein-coding ENSG00000152061 24663 16464 609238 VALIDATED 1315050 RABL3 RAB, member of RAS oncogene family-like 3 3 3 3 q13.33 118814920 118871134 - 121888218 121944074 - 120405528 120461384 - 737633;6480464 12477932 20596630;21832049;21139048;21890473;21906983;23251661 285282 C9JXM3;F8WAX9;F8WDC7;F8WF50;H7C533;Q5HYI8 ABBA01016492;AC117472;AC133474;AK025772;AK293085;AMYH01013424;BC020832;BX647559;BX647593;BX647664;CH471052;NM_173825 AAH20832;BAF85774;CAI46059;CAI46064;CAI46095;EAW79520;EAW79521;NP_776186;Q5HYI8 Hs.444360 1753111;1762263;2177939;5037552 D8S2279;SHGC-146121;SHGC-68332;SHGC-77253 MGC23920 OTTHUMP00000216148;OTTHUMP00000216151;rab-like protein 3 protein-coding ENSG00000144840 18072 15203 VALIDATED 1345525 RABGGTA Rab geranylgeranyltransferase, alpha subunit 14 14 14 q11.2 4599360 4605419 - 23804584 23810643 - 24734744 24740833 - 1580863;6480464 2018975;8380507;16344560;15489334;15188402;12620235;12535645;12477932;12107412;12071695;9196026;8954794;8505342;7991565;20403997;22863883;22939629;21890473;21906983 5875 H0YKP6;H0YKZ8;H0YLG7;H0YLH3;H0YMG5;Q92696 ABBA01061340;AK291347;AK292613;AK303247;AK308715;AL096870;AL547259;AMYH01005611;AU125148;BC003093;CB995791;CD370056;CD672493;CH471078;CR541797;DA379718;DB116988;NM_004581;NM_182836;Y08200 AAH03093;BAF84036;BAF85302;BAG64331;CAA69382;CAG46596;EAW66041;EAW66042;EAW66043;EAW66044;EAW66045;EAW66046;NP_004572;NP_878256;Q92696 Hs.377992 1651999;2153981 D14S673E;RH41775 PTAR3 Rab GG transferase alpha;Rab GGTase alpha;geranylgeranyl transferase type II subunit alpha;geranylgeranyl transferase type-2 subunit alpha;protein prenyltransferase alpha subunit repeat containing 3;rab geranyl-geranyltransferase subunit alpha;rab geranylgeranyltransferase subunit alpha protein-coding ENSG00000100949 9795 03547 601905 VALIDATED 736470 RABGGTB Rab geranylgeranyltransferase, beta subunit This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013] 1 1 p31 76024474 76033352 + 76251886 76260764 + 1580863;6480464 12620389;8380507;17081983;15489334;14702039;12802062;12620235;12535645;12477932;12071695;11675392;11591706;11447212;11141079;10491170;9719562;9677305;8954794;8706741;8505342;8175798;7991565;1598901;20379614;20403997;546546;21990357;21139048;21693764;21906983;19471022;22505724 5876 A8KAJ2;D3DQ78;P53611;Q5T4U8;Q6IB63 AB209023;ABBA01074416;AK127197;AK128861;AK293057;AL357314;AMYH01000713;BC020790;BC035873;BQ773824;CH471059;CR456941;NM_004582;NR_073562;U49245;X98001;Y08201 AAA91473;AAH20790;BAD92260;BAF85746;CAA66638;CAA69383;CAG33222;EAX06394;EAX06395;EAX06396;EAX06397;EAX06398;NP_004573;P53611 Hs.78948 1664206;1680132;1701664;2173236;2173238;5016596;5021396;5022578;5022651 A006C38;D11S2921;D1S1423;D1S2370;G20708;GDB:313783;GDB:631802;RH104502;RH64622 GGTB GGTase-II-beta;OTTHUMP00000011347;geranylgeranyl transferase type II subunit beta;geranylgeranyl transferase type-2 subunit beta;rab GG transferase beta;rab GGTase beta;rab geranyl-geranyltransferase subunit beta;rab geranylgeranyltransferase subunit beta;type II protein geranyl-geranyltransferase subunit beta protein-coding ENSG00000137955 9796 01532 179080 REVIEWED 1316404 RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1 RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010] 7 7 q11.21 65843078 65913886 + 66205643 66276451 + 1302425;1580863;6480464 12505986 16189514;16499958;17353931;18160707;17450153;17341663;16344560;15489334;15339665;14702039;12853948;12477932;11452015;11098082;9323142;8125298;15324660;11788822;16407276;11718716;15143060;15231748;20379614;20655225;19759177;21223598;22863883;22952906;18781797;21139048;21500550;21890473;21906983;10720461;21356307;22428841;22053931;22505724;22846990;23048039 27342 B4DZM7;C9JDA2;E9PFK9;Q9UJ41 ABBA01048964;ABBA01048965;ABBA01048966;ABBA01048967;AC027644;AI061350;AJ250042;AK001702;AK056864;AK223329;AK290678;AK303006;AMYH01017491;AW196783;BC015330;BM310029;BT007107;CD366530;CH471140;DA196847;DQ230533;DQ230534;DQ230535;NM_014504 AAH15330;AAP35771;AAQ93362;ABA64473;ABA64474;ABA64475;BAD97049;BAF83367;BAG50963;BAG64139;CAB57359;EAX07913;EAX07914;EAX07915;EAX07916;NP_055319;Q9UJ41 Hs.530053;Hs.709878 1648051;1655222;1680601;1691272;1697546;2151574 G29190;GDB:1318420;RH102281;RH36373;RH40777;RH75235 FLJ32302;RABEX5;rabex-5 OTTHUMP00000159944;OTTHUMP00000210543;OTTHUMP00000210544;RAP1;rab5 GDP/GTP exchange factor;rabaptin-5-associated exchange factor for Rab5 APPROVED protein-coding ENSG00000154710;ENSG00000243335 17676 609700 VALIDATED 1346791 RAC1P1 ras-related C3 botulinum toxin substrate 1 pseudogene 1 18 18 18 q11.2 19080488 19081375 - 20519341 20520428 - 22265442 22266329 - 387612 ABBA01022608;AC022884;AMYH01008893;NG_005321 HsT2789 pseudo 31001 INFERRED 1342726 RAC1P2 ras-related C3 botulinum toxin substrate 1 pseudogene 2 4 4 4 p13 47174482 47175442 - 46420344 46421481 - 46725687 46726624 - 15474301 442775 ABBA01014328;AC108931;AMYH01014157;NG_005326 Psi2Rac1 pseudo 31414 INFERRED 1352022 RAC1P3 ras-related C3 botulinum toxin substrate 1 pseudogene 3 13 13 13 q14.11 22919326 22920280 - 40758715 40760575 - 41861642 41862596 - 15474301 492295 ABBA01021273;AL354696;AMYH01005061;NG_004753 Psi3Rac1 pseudo 31833 INFERRED 1348059 RAC1P4 ras-related C3 botulinum toxin substrate 1 pseudogene 4 X X X q26.3 136889230 136890214 - 136350772 136351956 - 136523206 136524190 - 15474301 286472 ABBA01065822;ABBA01065823;AL022576;AMYH01023053;NG_004751 2219598 RAC4__5639 Psi4Rac1;RAC4 pseudo 31113 INFERRED 1342592 RAC1P5 ras-related C3 botulinum toxin substrate 1 pseudogene 5 This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. [provided by RefSeq, Jul 2008] 4 4 4 q25 105422701 105424805 - 108344489 108345463 + 108123810 108125914 - 15474301;17903307 402183 ABBA01063748;AC104663;AF542527;AMYH01014450;NG_005324 2219598 RAC4__5639 Psi1Rac1 APPROVED pseudo 30593 REVIEWED 5133143 RAC1P6 ras-related C3 botulinum toxin substrate 1 pseudogene 6 7 114776630 114777216 - 100422657 AACC02000001;ABBA01057824;AC068610;AMYH01017877;CH236947;NG_026506 1828606;1828992;1833268 ECD15430;ECD15623;ECD17777 pseudo 42006 INFERRED 6480980 RAC1P7 ras-related C3 botulinum toxin substrate 1 pseudogene 7 1 234162619 234162973 - 100874390 ABBA01033086;AL672045;AMYH01001830;NG_032389 pseudo 42007 INFERRED 6480997 RAC1P8 ras-related C3 botulinum toxin substrate 1 pseudogene 8 13 62379283 62379809 + 100874398 ABBA01050238;AL353765;NG_032388 pseudo 42005 INFERRED 1315545 RABL2A RAB, member of RAS oncogene family-like 2A This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Two alternatively spliced transcript variants have been identified, both encoding the same protein. [provided by RefSeq, Jul 2008] 2 2 q13 114101352 114117436 + 114384817 114400975 + 1580863;6480464 10444334;15461802;15815621;14702039;12477932;8889548;20138207;22939629;19322201;21890473 11159 B7ZBD4;B7ZBD5;E7EWW3;F2Z2E5;Q9UBK7 ABBA01045991;ABBA01045992;AF095350;AF095351;AK092971;AK289496;AL078621;AL137649;AMYH01010967;BC062578;BC111008;BC126129;BC144050;BC144052;BU728800;CR456554;NM_007082;NM_013412 AAD51377;AAD51378;AAI11009;AAI26130;AAI44051;AAI44053;BAF82185;CAG30440;NP_009013;NP_038198;Q9UBK7 Hs.446425 1675489;1686090;1706104;5015619;5016478;5037552 D11S3114;D8S2279;GDB:434012;RH70758;RH79812;SHGC-80090 FLJ78724;MGC117180 OTTHUMP00000045491;OTTHUMP00000045492;OTTHUMP00000045493;OTTHUMP00000203788;OTTHUMP00000203792;OTTHUMP00000203793;rab-like protein 2A APPROVED protein-coding ENSG00000144134 9799 10394 605412 REVIEWED 1344362 RABIF RAB interacting factor This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011] 1 1 1 q32.1 175977320 175987480 - 201114708 201124886 - 202847410 202858385 - 1580863;6480464 7619808;9441742;16169070;15489334;12477932;12105226;10094488;9013620;8125298;7651540;12788069;16541104;19536175;16344560;21139048;21044950;22495352 5877 P47224;Q53EV1 ABBA01027495;AC098934;AK223538;AK311900;AMYH01001652;BC018488;BC037392;BQ898100;BT007133;CH471067;DA674111;NM_002871;S78873;U74324 AAB18264;AAB34955;AAH18488;AAH37392;AAP35797;BAD97258;BAG34841;EAW91443;NP_002862;P47224 Hs.90875 2167604;2171954 SHGC-76169;STS-AA011218 MSS4;RASGFR3;RASGRF3 OTTHUMP00000038814;Ras-specific guanine-releasing factor 3;guanine nucleotide exchange factor MSS4;mammalian suppressor of SEC4;rab-interacting factor APPROVED protein-coding 9797 04566 603417 REVIEWED 1313356 RABL5 RAB, member RAS oncogene family-like 5 7 7 7 q22.1 95965814 95974259 - 100743369 100751750 - 100956648 100965093 - 737633;6480464 12477932 15489334;14702039;12107410;17207965;22939629;21139048 64792 F8WDY0;Q9H7X7 ABBA01011335;AC006329;AK023287;AK024179;AK292254;AK298888;AL157469;AMYH01017751;BC004522;BC009823;BC038668;BC050531;BU597007;CA396999;CA841889;CH471197;NM_001130820;NM_001130821;NM_001130822;NM_022777 AAH04522;AAH09823;AAH38668;ADQ33154;BAB14846;BAF84943;BAG51181;BAH12896;CAH10693;EAW50216;EAW50217;EAW50218;EAW50219;EAW50220;NP_001124292;NP_001124293;NP_001124294;NP_073614;Q9H7X7 Hs.389104 1677492;5014019;5015619;5015961;5017266;5020946;5022651;5024761;5037552;5109281;5109663;5118444 D11S2921;D11S3114;D11S3316;D15S1477;D1S1425;D5S2354;D7S2067E;D8S2279;L17971;L18506;RH36905;RH80206 DKFZp761N0823;FLJ13225;FLJ14117 OTTHUMP00000211525;OTTHUMP00000211527;OTTHUMP00000211529;OTTHUMP00000227180;OTTHUMP00000227181;RAB, member of RAS oncogene family-like 5;rab-like protein 5 protein-coding 21895 15204 VALIDATED 1353591 RABL2B RAB, member of RAS oncogene family-like 2B The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 22 22 q13.33 49552786 49568953 - 51205920 51222087 - 1580863;6480464 10444334;16189514;15489334;15461802;14702039;12477932;10591208;20138207;19322201 11158 A8MXF6;C9JFZ0;F2Z2T3;F2Z3A9;F2Z3J7;Q9UNT1 ABBA01006498;ABBA01042612;AC002055;AF095352;AI701071;AK094341;AK308268;AK313442;AMYH01012925;BC014879;BC020495;BC024281;BC040495;BC064551;BC075856;BG177165;BT020037;BX421088;BX432293;NM_001003789;NM_001130919;NM_001130920;NM_001130921;NM_001130922;NM_001130923;NM_007081 AAD51379;AAH14879;AAH24281;AAV38840;ABM83286;ABM86493;CAK54585;CAK54884;NP_001003789;NP_001124391;NP_001124392;NP_001124393;NP_001124394;NP_001124395;NP_009012;Q9UNT1 Hs.584862 1675489;1686090;1706104;5015404;5015619;5015861;5016478;5017266;5020274;5037552;7185938 D10S16;D11S3114;D8S2279;GDB:434012;L17705;L18441;L18506;RH70758;RH79812;SHGC-80090 FLJ93981;FLJ98216 OTTHUMP00000196480;OTTHUMP00000196482;OTTHUMP00000196485;OTTHUMP00000196486;OTTHUMP00000196487;rab-like protein 2B APPROVED protein-coding ENSG00000079974 9800 10395 605413 REVIEWED 1316912 RABL6 RAB, member RAS oncogene family-like 6 This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 9 9 9 q34.3 110216142 110249429 + 138822195 138855460 + 139702374 139735639 + 737633;6480464 12477932 15489334;12970870;16189514;19433581;17962191;17081983;16582619;15164053;14702039;12646258;8889548;22863883;22939629;18029348;16344560 55684 B1AMX5;F2Z2T0;G3V154;G8JLF3;H0Y4Z8;H0Y7H6;Q8TCL4 ABBA01022721;ABBA01022722;ABBA01022723;AF318367;AK000963;AK001184;AK023107;AK027586;AK094382;AK098086;AK128154;AK307431;AL355987;AL713707;AMYH01021874;BC002945;BC018960;BC021095;BC024964;BC035786;BQ184080;BQ437663;CH471090;CR989427;CX784448;DA805618;DQ099383;DQ141240;EF156752;EF156753;GQ169126;GQ169127;NG_031950;NM_001173988;NM_001173989;NM_024718 AAH02945;AAH21095;AAH35786;AAL55874;AAZ13759;AAZ73768;ABO84837;ABO84838;ACS45171;ACS45172;ADZ16036;BAA91446;BAA91541;BAB14408;BAB55213;BAG52862;BAG54639;CAD28504;EAW88282;EAW88283;EAW88284;EAW88285;EAW88286;NP_001167459;NP_001167460;NP_078994;Q3YEC7 Hs.370555 1679593;2159074;2183370;5014051;5037552 228;D8S2278;D8S2279;RH65048;RH78559 C9orf86;FLJ10101;FLJ13045;KIAA1984;Parf;RBEL1;RP11-216L13.9;bA216L13.9;pp8875 GTP-binding protein Parf;OTTHUMP00000022608;OTTHUMP00000022610;OTTHUMP00000022612;OTTHUMP00000022613;OTTHUMP00000022614;OTTHUMP00000022615;Rab-like GTP-binding protein 1;Rab-like GTP-binding protein 1C;Rab-like protein 1;partner of ARF;putative GTP-binding protein Parf;rab-like protein 6 APPROVED protein-coding ENSG00000196642 24703 12984 610615 REVIEWED 1605021 RACGAP1P Rac GTPase activating protein 1 pseudogene 12 12 12 q12 44260076 44262869 - 43742568 43745561 - 45456401 45459194 - 6480464 12477932;21139048 83956 ABBA01031439;AC008127;AF334184;AMYH01004420;BC125190;BC125191;NR_026583 AAG50293 Hs.650500 2117989 STS-W72501 FKSG42 pseudo 24689 13325 VALIDATED 1352798 RAD17P1 RAD17 homolog (S. pombe) pseudogene 1 7 7 7 p21 16883788 16886313 - 16869870 16872415 - 16903489 16906014 - 10480350 9207 AACC02000008;ABBA01056636;AC098592;AJ131309;AMYH01017094;CH236948;NG_002929 HRAD17P1 pseudo 9808 INFERRED 1343366 RAD17P2 RAD17 homolog (S. pombe) pseudogene 2 13 13 13 q14.2 30673710 30676895 - 48515974 48518931 - 49617829 49621014 - 10480350;9660800 9206 ABBA01051014;AL161421;AMYH01005105;NG_002928 1653829;1660116;1660990;1681732;1690410;2127959;2130683;2168955;2171370;2176503;5092804 A006G05;D13S1171;G32341;RH44749;RH45056;RH45787;RH47134;RH69432;RH98674;WI-14349;WI-18286 FLJ31509;HRAD17P2;KIAA0970 pseudo 9809 INFERRED 1316839 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013] 22 22 q13.1 35951256 35970251 - 37621310 37640305 - 1599398;1580863;6480655;6480464;6907045;7240710 10758162;21382035 16526095;2674130;11090627;16636067;19555660;19505917;19423521;19118104;18799653;18723130;18662984;18628988;18217210;18056264;17982024;17975262;17269730;17227822;16772332;16582540;15812594;15761153;15489334;15461802;15023524;14702039;12960248;12912997;12716910;12676940;12516569;12477932;12176041;12027902;11513578;11457725;11445862;11346801;11042152;11027608;10961859;10655614;10591208;10559471;9748241;9642115;9624165;9614111;9490022;9299243;8504089;1903399;1902092;1316893;16436505;14737186;11368848;20065081;11604131;19423540;19625648;20007712;20056178;20406964;20438785;21178276;21206905;21378159;20834067;21890473;21900206;21906983;22018470;21680873;21964561;22411871;21900546;10864872;11224519;12370311;14564009;14564011;15326354;15642721;1660188;23463506;23752268;19738201;21988832;22623428;23000965;23382236 5880 AAB22207;B1AH77;B1AH78;B1AH79;B1AH80;P15153 ABBA01055461;ABBA01055462;AF077208;AF498965;AK096924;AMYH01012753;BC001485;BC018735;BC051899;BI908751;BQ934070;BT006919;CH471095;CR456555;M29871;NG_007288;NM_002872;Z82188 AAA36538;AAB22207;AAD27003;AAH01485;AAM21112;AAP35565;ABM84214;ABM87619;ABW03912;CAG30441;CAK54586;CAK54885;EAW60149;EAW60150;EAW60151;EAW60152;EAW60153;NP_002863;P15153 Hs.517601 1739667;2107543;2182804 D22S1122E;RAC2_3212.2;STS-AA033975 EN-7;Gx;HSPC022;p21-Rac2 OTTHUMP00000197775;OTTHUMP00000197777;OTTHUMP00000197778;OTTHUMP00000197779;Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2);p21-Rac2;ras-related C3 botulinum toxin substrate 2;rho family, small GTP binding protein Rac2;small G protein APPROVED protein-coding ENSG00000128340 9802 03628 602049;608203 REVIEWED 1344542 RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq, Jul 2008] 17 17 q25.3 77582821 77585369 + 79989532 79992080 + 6480464;6907045 11747336;11956649;16525025;19494130;18319303;17244648;16982419;16280046;16027728;15993075;15489334;12477932;11756406;10894930;10618392;9299243;9252344;8889548;2674130;12145209;21963094;22370642;23000965;15184363;10777539;20413580;21217774;16331275;22786680;21852230;21139048;21890473;21900206;21906983;21632823;22918955;23388133;22957814 5881 J3KSC4;J3QLK0;P60763 ABBA01019661;AC137723;AF008591;AF498966;AMYH01008727;BC009605;BC015197;BT019443;BU731383;NM_005052 AAC51667;AAH09605;AAH15197;AAM21113;AAV38250;ABM84049;ABM87399;NP_005043;P60763 Hs.45002 p21-Rac3;ras-related C3 botulinum toxin substrate 3;rho family, small GTP binding protein Rac3 APPROVED protein-coding ENSG00000169750 9803 03629 602050 REVIEWED 1315145 RAD1 RAD1 homolog (S. pombe) This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009] 5 5 p13.2 34941122 34954139 - 34905365 34915780 - 1580863;6480464 9660799;10359610;9716408;9872989;12791985;19074885;18950845;17855402;17583730;17493829;17395641;16814252;16731526;16216273;15897895;15871698;15556996;15489334;15314187;15122316;14702039;14611806;14500360;12578958;12477932;12228248;11994305;11944979;11907025;11799063;11573955;11418864;11340080;10884395;10852904;10846170;10777662;9878245;9828139;9828137;9705507;8361362;11572977;16169070;20677014;20188637;19523882;19535328;19615952;20545769;18162465;19464297;20847938;21978893;21139048;22586102;18029348 5810 D6R9A1;O60671 AB183821;AB183822;ABBA01039263;AC026801;AF011905;AF030933;AF058392;AF058393;AF073524;AF074717;AF076841;AF084512;AF084513;AF090170;AJ004974;AJ004975;AK002112;AMYH01015022;BC006837;BC009804;BC035771;BC037857;BT006908;CH471119;DQ451401;NM_002853;NR_026591 AAC14138;AAC27243;AAC35549;AAC35550;AAC95427;AAC95466;AAC95523;AAC95603;AAC98093;AAH06837;AAH09804;AAH37857;AAP35554;ABD96829;ABM82070;ABM85250;BAD86789;BAD86790;BAG51017;CAA06248;CAA06249;EAW55904;EAW55906;EAW55907;EAW55908;NP_002844;O60671 Hs.38114 1678185;1680425;1688917;1691350;1788132;1788134;1789989;1789991;1789993;2130104;5015959;5015961;5024756;5037552 D10S2448;D15S1477;D8S2279;G41777;G67270;G67271;RH41063;RH80030;RH92952;RH93983;STS-R91228;csnprad1-pcr1-1;csnprad1-pcr2-4;csnprad1-pcr3-3 HRAD1;REC1 DNA repair exonuclease REC1;DNA repair exonuclease rad1 homolog;OTTHUMP00000115990;OTTHUMP00000115992;cell cycle checkpoint protein Hrad1;cell cycle checkpoint protein RAD1;checkpoint control protein HRAD1;exonuclease homolog RAD1;rad1-like DNA damage checkpoint protein APPROVED protein-coding ENSG00000113456 9806 04400 603153 REVIEWED 1319895 RAD17 RAD17 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013] 5 5 q13 68700880 68746384 + 68665124 68710628 + 1580863;6480464 10884395;15538388;9660800;14657349;18029348;18950845;18378394;17657792;16951182;16885023;16381901;16314342;15489336;15489334;15485898;15235112;14702039;14624239;14611806;14605214;14500819;12672690;12578958;12477932;12400013;11907025;11799063;11715513;11687627;11602352;11572977;11418864;11230166;11076863;10852904;10608806;10593953;10480350;10232579;10208430;9933569;9878245;9869296;9716408;1563350;16354571;20424596;19615732;12791985;14968112;15149599;18245774;18344987;23383325;21282530;23455924;14724280;19275579 5884 D6RA84;D6RAW6;D6RHU1;H0Y9J8;H0Y9T7;Q9UPF5 ABBA01048273;ABBA01048274;ABBA01048275;AC145132;AC145145;AC145146;AF017748;AF076838;AF085736;AF098533;AF098534;AF106065;AF112263;AF126424;AJ001642;AJ004977;AJ131296;AK292487;AL122068;AMYH01015146;AY612854;BC018110;BC032304;BX537441;CH471137;NM_001278622;NM_002873;NM_133338;NM_133339;NM_133340;NM_133341;NM_133342;NM_133343;NM_133344 AAC36334;AAC95520;AAC97950;AAC97951;AAD01620;AAD17334;AAD38878;AAD42176;AAH32304;AAT09763;ABM82534;ABM85727;BAF85176;CAA04894;CAA06251;CAB46364;CAB59244;CAD97683;CAL37923;EAW51279;EAW51280;EAW51281;EAW51282;EAW51283;EAW51284;EAW51285;EAW51286;EAW51287;EAW51288;EAW51289;NP_001265551;NP_002864;NP_579916;NP_579917;NP_579918;NP_579919;NP_579920;NP_579921;NP_579922;O75943 Hs.16184 1678697;1691348;1796644 G41776;RAD17_783;RH98911 CCYC;FLJ41520;HRAD17;R24L;RAD17SP;RAD24 OTTHUMP00000125188;OTTHUMP00000125189;OTTHUMP00000125190;OTTHUMP00000125191;OTTHUMP00000125192;OTTHUMP00000125193;OTTHUMP00000125194;OTTHUMP00000222130;OTTHUMP00000227668;RAD1 homolog;RF-C activator 1 homolog;RF-C/activator 1 homolog;Rad17-like protein;cell cycle checkpoint protein (RAD17);cell cycle checkpoint protein RAD17 APPROVED protein-coding ENSG00000152942 9807 09124 603139 REVIEWED 1605432 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 7 7 p22 6380651 6410123 + 6414126 6443598 + 2293891;2293876;2293879;6480464;6484113;6907045 17481747;8910292;9305638 17702746;7957046;9490022;19843518;21347385;21706053;21781463;21822311;22023324;22049212;22061968;22101459;22114142;22137120;22142809;22157753;22157762;22238325;22238672;22276187;22307908;22337875;22349509;22407364;22431917;22467858;15467718;10954424;9312003;16636067;9572733;7744773;10648409;14737186;19596003;19563775;19555660;19505917;19497305;19472214;19463088;19429871;19429708;19423521;19390057;19366706;19344766;19277120;19234490;19201754;19165496;19162367;19155310;19132225;19107873;19095647;19047046;18984162;18922799;18838676;18826597;18813837;18813807;18805958;18792873;18769720;18768751;18725541;18716283;18684957;18676680;18653540;18646053;18644982;18632858;18602919;18596235;18508927;18501711;18482007;18480413;18463417;18445079;18440141;18433991;18424721;18344974;18334926;18325335;18321527;18319303;18319301;18310224;18296444;18287089;18261726;18249095;18235104;18216165;18172037;18165265;18160398;18160397;18156211;18093184;18088600;18086571;18079321;18070887;18064650;18056353;18045877;18006851;17982280;17982024;17941827;17916560;17904119;17868934;17851761;17848544;17766170;17702745;17693642;17686471;17663742;17637758;17627624;17622308;17615554;17604276;17597401;17568564;17565754;17562712;17562701;17521326;17517067;17513457;17478078;17428306;17409253;17356711;17347137;17301947;17300916;17275330;17244648;17234718;17233629;17229424;17122362;17121847;17115053;17088251;17081065;17074883;17064663;17027967;17018616;17018610;17012749;16982419;16951224;16914518;16861229;16825658;16809619;16775008;16772332;16762923;16751412;16716260;16707128;16681996;16628223;16551621;16507994;16492808;16439689;16410245;16397238;16395716;16390331;16354686;16339173;16339170;16280046;16257181;16246732;16243562;16195373;16195235;16027728;15905615;15901767;15864742;15860737;15850775;15817154;15777850;15647276;15614286;15579468;15569826;15535843;15494521;15489334;15479739;15470041;15377999;15351707;15308673;15304341;15303276;15298851;15265891;15247305;15231571;15226424;15194790;15194684;15187145;15170282;15166228;15123662;15123640;15121898;15048733;15023524;15009099;14976202;14960575;14764880;14736526;14729058;14702039;14701795;14641180;14625275;14623895;14576080;14573547;14557270;14514689;14506233;12972426;12960245;12919680;12912997;12883706;12879077;12874273;12861025;12853948;12810717;12761036;12719789;12716910;12714565;12690205;12676940;12657628;12650940;12612085;12606638;12584113;12574162;12547822;12533515;12524240;12511425;12499846;12477932;12453877;12393632;12393431;12377770;12376551;12239215;12181570;12169092;12134158;12123608;12117911;12115629;12086876;12054568;12038964;12027902;12006387;11998687;11973651;11955434;11950936;11950930;11948427;11896062;11893732;11884513;11839748;11822867;11756552;11685227;11595749;11590143;11513579;11513578;11478794;11457725;11438723;11422783;11416133;11346801;11284700;11278572;11260256;11258927;11163217;11135665;11134022;11130076;11130063;11101877;11090627;11084340;11062023;11035813;11030651;11027608;11021801;10958683;10871853;10821761;10816584;10779525;10766742;10747961;10673424;10617634;10597294;10559471;10523675;10508610;10486263;10346909;10220378;10051605;9857026;9843499;9808620;9799233;9786927;9624165;9582072;9535855;9463375;9427749;9417078;9255350;9190911;9148763;9083043;9033596;9030878;8990187;8798539;8769096;8756646;8702968;8670882;8670801;8643625;8631991;8496137;8491184;8107774;12915445;8036496;8034624;7938008;7744004;7738010;7673236;7629060;7545969;7493928;2674130;2108320;1903399;1643658;16526095;17077296;16687395;8994833;16436505;14597672;10394361;9139723;17353931;11368848;21690261;22773836;10873802;12110184;11274357;9642115;8939933;9079650;10869570;11431473;10947987;12819203;12454018;8543060;11287617;11328862;16169070;15147912;15975516;14530271;12944407;15864311;15735674;15642257;15649357;15723800;15652748;12538863;2550440;20961652;21076938;20131316;20515940;20606682;20648624;20404345;20660631;21281602;22213037;23537630;17500595;20395446;17719203;20067638;20167866;21071692;21134286;20426825;20203103;20578145;21056892;20372815;20339539;15597056;20451655;20650890;20936779;16982892;20814828;20841379;21036915;20001745;20070306;20530480;20530489;20837928;10706722;10802735;11604131;11756498;12376548;12730235;12787561;15051728;15247908;15294869;15642356;16188938;16628218;17215244;17245428;19079338;19170196;19171758;19356729;19403692;19423540;19443661;19448673;19469899;19473989;19480078;19487339;19487462;19506399;19509242;19584084;19602482;19617897;19625176;19625648;19633358;19639179;19640983;19651782;19692168;19706598;19709124;19710257;19723872;19726546;19738201;19787194;19823586;19826000;19853600;19865048;19895673;19911011;19917258;19926792;19934221;19948726;20054824;20056178;20082286;20102701;20116244;20154214;20179179;20228810;20237902;20308428;20335173;20339118;20406964;20438785;9487125;9520479;20696765;20522449;20852826;19890013;20407862;22723286;20881009;20065081;20148946;21482222;20980685;21199870;21266580;21404019;21603603;19404567;20629539;20945370;21325632;21372752;21474673;21291504;21295525;22467863;22863953;22905193;22945935;22808202;22939629;23071154;21206905;21454543;20713492;21451103;21357506;21457935;21507984;21615663;21621326;21321939;21693584;21806545;21750647;21844371;21439300;21624123;21525435;21704033;23657011;22646320;23185021;21677313;21684284;21642434;21868386;20460433;21900206;21943825;22036506;21873980;21622527;21756249;21757621;21628952;21734401;21885850;22151306;22774404;20110267;23035050;23274900;20639865;20935639;21139048;21474670;21789714;21890473;21906983;21963094;21980400;21816966;21828072;21963679;22080864;15673687;22393062;22614015;16002993;19327867;21964561;22113496;22179719;22384062;22479308;22583359;22128169;22318606;22494620;23295182;19270716;21319273;22117219;22393046;22677168;16678097;17203973;20696164;23223568;23264468;22946057;23296296;23300597;23337888;22430205;23307871;11157984;15085137;21988832;22623428;23000965;23192342;22421922;23382236;21853342;23562278;22845716;22848487;23284172;23148218;23423567;22842228;23482591;22469974;23455924;15075243;17940286;18005680;20842205;21172429;21321123;21936715;22053931;22340048;22796473;22843693;22844345;22781349;23184663;22092654;22791907 5879 A4D2P0;A4D2P1;AAB22206;P63000 AACC02000121;AB209410;AB451238;AB451363;ABBA01056484;ABBA01056485;AC009412;AF136373;AF498964;AJ132694;AJ132695;AK054993;AK122742;AK291806;AK291815;AL833528;AMYH01017035;AMYH01017036;AY279384;BC004247;BC050687;BC107748;BG437715;BQ689587;BT007121;CH236963;CH878731;CS026591;CS026817;D25274;DQ165078;M29870;M31467;NG_029431;NM_006908;NM_018890 AAA36537;AAA36544;AAB22206;AAD30547;AAH04247;AAH50687;AAI07749;AAM21111;AAP35785;AAQ16632;AAS07511;AAS07512;AAZ80485;ACE86720;ACE87049;ACE87406;ACE87731;BAD92647;BAF84495;BAF84504;BAG51447;BAG70052;BAG70177;CAA10732;CAA10733;CAB53579;CAI61762;CAI61874;EAL23718;EAL23719;EAL23720;EAW55039;EAW55040;EAW55041;EAW55042;EAW55043;EAW55044;NP_008839;NP_061485;P63000 Hs.413812 1651703;1735634;1798070;2116392;2152182;2219598;5014051;5015619;5016478;5016700;5021872;5022200;5022651;5024704;5037552;5109663;5117897;5119308 D11S2921;D11S3114;D7S2039E;D7S2067E;D7S2402;D8S2278;D8S2279;GDB:434012;GDB:451547;GDB:6028658;GDB:631813;L18426;RAC1_2171;RAC4__5639;RH65264;RH79802;SHGC-31947;sY3084 MGC111543;MIG5;Rac-1;TC-25;p21-Rac1 OTTHUMP00000151196;OTTHUMP00000151197;cell migration-inducing gene 5 protein;migration-inducing gene 5;ras-like protein TC25;ras-related C3 botulinum toxin substrate 1;rho family, small GTP binding protein Rac1 1643402 BMD2_H APPROVED protein-coding ENSG00000136238 9801 03627 602048 REVIEWED 3436499 RAD21-AS1 RAD21 antisense RNA 1 8 8 8 q24.11 114075352 114077796 + 117955813 117958288 + 117886663 117889107 + 12477932 644660 E5RI81 ABBA01037793;AC087350;AMYH01018983;BC031280;NG_032862;NR_033886 Hs.706174 C8orf81;NCRNA00255 APPROVED miscrna ENSG00000253327 32158 VALIDATED 1345277 RAD23BLP RAD23 homolog B-like (S. cerevisiae) pseudogene 21 q11 17066619 17068730 - 10830953 54034 ABBA01057086;AL034449;AMYH01012142;NG_032020 APPROVED pseudo 9814 INFERRED 1314228 RACGAP1 Rac GTPase activating protein 1 The protein encoded by this gene belongs to the GTPase-activating protein (GAP) family. GAPs bind activated forms of Rho GTPases and stimulate GTP hydrolysis. Through this catalytic function, GAPs negatively regulate Rho-mediated signals. This protein plays a regulatory role in initiation of cytokinesis, controlling cell growth and differentiation of hematopoietic cells, regulating spermatogenesis, and in neuronal proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] 12 12 q13.12 48669212 48705488 - 50382945 50419307 - 1580863;6480464 10979956;11085985;11278976;16129829;12590651;19015243;18511905;18201571;17982282;17081983;16964243;16790497;16565220;16381901;16344560;16118207;15872091;15863513;15728185;15677464;15642749;15489336;15489334;15324660;15284113;15009096;14744859;14729465;14702039;12689593;12493759;12477932;12432077;11942621;11937491;11782313;11278894;11230166;11076863;10819331;10748082;10655059;9822598;9497316;9482736;9427749;9079650;8125298;16169070;12577067;17353931;15778465;19913121;20628086;11256614;22945935;23235882;23096218;16103226;16236794;22939629;21825042;19468302;20360068;21139048;21890473;21906983;18781797;21628590;19531213;21145461;22683270;23225332;23537643;21963094;21988832;23000965;23135572;22505724 29127 B2RE34;F8VQF5;F8VQZ5;F8VRD2;F8VRL2;F8VS54;F8VUW9;F8VV37;F8VV39;F8VV47;F8VVE5;F8VVY0;F8VWX0;F8VWY4;F8VXH1;F8VYH6;F8VZ41;F8VZ66;F8W0L1;F8W1E5;F8W1T4;H0YIK5;Q9H0H5 AB030251;AB040911;ABBA01031546;ABBA01031547;ABBA01031548;ABBA01031549;ABBA01031550;AC025154;AK000733;AK022726;AK225901;AK315785;AL136794;AMYH01004449;BC024144;BC032754;CH471111;CR533565;DA441098;DB076571;NM_001126103;NM_001126104;NM_013277 AAH24144;AAH32754;ABM85335;ABW03715;BAA90247;BAA91347;BAA96002;BAB14206;BAG38131;CAB66728;CAG38596;CAL38730;EAW58113;EAW58114;EAW58115;NP_001119575;NP_001119576;NP_037409;Q9H0H5 Hs.505469 2109727;2113026;2117989;2143380 D12S2183;RACGAP1_9584;STS-W72501;WI-17598 CYK4;HsCYK-4;ID-GAP;MgcRacGAP GTPase activating protein;OTTHUMP00000242159;OTTHUMP00000242160;OTTHUMP00000242161;OTTHUMP00000242162;OTTHUMP00000242163;male germ cell RacGap;protein CYK4 homolg;protein CYK4 homolog;rac GTPase-activating protein 1 APPROVED protein-coding ENSG00000161800 9804 05402 604980 VALIDATED 7174872 RAD23BP1 RAD23 homolog B (S. cerevisiae) pseudogene 1 3 p24.3 18580165 18581388 + 131185 ABBA01025113;AC105765;AMYH01013008;NG_022240 pseudo 44509 INFERRED 7174767 RAD23BP2 RAD23 homolog B (S. cerevisiae) pseudogene 2 7 q21.11 83292735 83293941 + 100130572 AACC02000015;ABBA01045906;AC004954;AMYH01017656;CH236949;NG_022568 pseudo 44510 INFERRED 1348792 RAD21L1 RAD21-like 1 (S. pombe) 20 20 20 p13 1303090 1331471 + 1154700 1183101 + 1206764 1235145 + 12477932;11780052;19010793;21527826 642636 Q9H4I0 ABBA01053767;ABBA01053768;AL031665;AMYH01011663;BC157891;BC171911;HQ603827;NM_001136566 AAI57892;AAI71911;AEF15806;NP_001130038;Q9H4I0 Hs.713451 MGC198626;RAD21L;dJ545L17.2 (S. pombe);OTTHUMP00000029969;OTTHUMP00000205129;double-strand-break repair protein rad21-like protein 1 protein-coding ENSG00000244588 16271 VALIDATED 1315923 RAD18 RAD18 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008] 3 3 p25-p24 8896560 8980146 - 8918880 9005159 - 1580863;6480464 19013543;12477932;21422291;19493487;22547805;22681887;18363965;10884424;10908344;19630985;19396164;18926833;18290323;17914568;17624554;17541157;17242200;17158148;17081983;16964243;16824193;16710452;16611994;16565220;16098139;15509568;15489334;15381075;15359278;15302935;14702039;12856420;12016221;8125298;18316726;20385554;19549727;20675655;17720710;19228710;19556710;20056641;20453000;16159877;20937699;21098111;20967207;21355096;18781797;19850743;20064529;20360068;20600238;20639865;21396873;21884979;21987572;22036607;22939629;21478670;16196087;21549715;21858012;19471022;21139048;21693764;21890473;21906983;21967848;21227930;21252943;17108083;22742833;20935496;22145991;22391204;22456510;12776193;18245774;18842586;19285159;22902628;22493164;22990118;15632077;21963094;21988832;23000965;23295675;23345618;22053931;22505724 56852 C9J0Q4;F8WAZ7;F8WE49;F8WFA6;H7C0A5;H7C3I2;Q9NS91 AB035274;ABBA01020415;AC008151;AC034186;AF169796;AK023075;AK222771;AMYH01012962;AY004333;AY961989;BC001302;CH471055;DW433240;NM_020165 AAF80856;AAF86618;AAH01302;AAX44049;ABM82123;ABM85306;BAA99284;BAB14392;BAD96491;EAW63948;EAW63949;NP_064550;Q9NS91 Hs.375684 1654603;1705048;1792902;1854617 PMC16647P1;RH12770;SHGC-76680;SHGC-78042 RNF73 E3 ubiquitin-protein ligase RAD18;OTTHUMP00000115649;RAD18, S. cerevisiae, homolog;RING finger protein 73;hHR18;hRAD18;postreplication repair protein RAD18;postreplication repair protein hRAD18p APPROVED protein-coding ENSG00000070950 18278 09242 605256 REVIEWED 7244734 RAD51-AS1 RAD51 antisense RNA 1 (head to head) 14702039 100505648 ABBA01038436;AC022405;AK000890;AK024377;AK125393;AMYH01006565;NR_040058 Hs.586876;Hs.598483 1793910;2170924;5015881;5015961;5016596;5022578;5022651;5037552;5119148 D11S2921;D15S1477;D1S1423;D2S1946E;D8S2279;GDB:335751;GDB:631802;PMC30636P1;RH65435 miscrna ENSG00000245849 48621 VALIDATED 2311158 RAD51AP2 RAD51 associated protein 2 2 2 2 p24.2 17571800 17579522 - 17555467 17563187 - 17691986 17699706 - 16990250;22589738 729475 Q09MP3 ABBA01018508;AC104812;AK310498;AMYH01010143;DB514225;DQ860102;NM_001099218 ABI64147;NP_001092688;Q09MP3 Hs.515802;Hs.722353 OTTHUMP00000200481;RAD51-associated protein 2 protein-coding ENSG00000214842 34417 PROVISIONAL 1317642 RAD21 RAD21 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008] 8 8 q24 117927355 117956182 - 117858173 117887105 - 1580863;6480464;6907045 12672959;8812457;19369356;19322193;19158269;19074885;18829510;16416296;16344560;15837422;15767545;15737063;15489334;14702039;14603436;12477932;12417729;12200439;12198550;12034751;11875078;11793857;11590136;11509732;11483345;11243849;11076961;11073952;10931856;10623634;10207075;7584044;12930902;20404533;20404544;11111111;15855230;17112726;17113138;18029348;18197499;19468298;20056645;20085707;19308699;16159877;20364118;18219272;22939629;20818333;17349791;20360068;21876002;22242598;22586326;22623531;17043677;17962804;18781797;21139048;21693764;21890473;21906983;21963094;21252943;22075476;22145905;21880767;22633399;22751501;16802858;22537934;23000965;21987589;23548868;20301283;21043528;21111234;21875947;22505724 5885 E5RFV8;E5RFZ5;E5RG18;E5RI01;E5RIN7;E5RJK5;E5RJW1;O60216 ABBA01037793;AC087350;AK097915;AK098521;AK125620;AK289505;AMYH01018983;AY675320;BC001229;BC050381;CH471060;D38551;DA328186;NG_032862;NM_006265;X98294 AAH50381;AAT70725;BAA07554;BAF82194;BAG53550;CAA66940;EAW91963;EAW91964;EAW91965;NP_006256;O60216 Hs.81848 1685039;1691180;1694430;1712252;1721281;2120215;2120504;2124153;2137952;2173650;5094374;5125577 Bda37g02;D3S3884;G29205;G42913;G54034;G54641;G59637;RH25306;RH65259;SHGC-37645;STS-Z78334;WI-14191 CDLS4;FLJ25655;FLJ40596;HR21;HRAD21;KIAA0078;MCD1;NXP1;SCC1;hHR21 NXP-1;OTTHUMP00000228038;SCC1 homolog;double-strand-break repair protein rad21 homolog;nuclear matrix protein 1;protein involved in DNA double-strand break repair APPROVED protein-coding ENSG00000164754 9811 05924 606462;614701 REVIEWED 733899 RAD50 RAD50 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010] 5 5 q31 131920529 132007498 + 131892616 131980313 + 1578504;1302871;68816;2293511;2300220;2300250;6480464;6907045;7240710 16498454;15199173;10908350;16288216;16474176;14511253 9705271;15279769;12152085;9590181;8756642;10888888;19244322;19197236;19190165;19131452;19124506;19064572;19064565;18950845;18846228;18830935;18829552;18638378;18632984;18596698;18469862;18219098;17932350;17898048;17715134;17700070;17694070;17693401;17567994;17534377;17526493;17524422;17456004;17426050;17349953;17169801;17081983;16905549;16788144;16385572;16254336;16163361;16087684;16051665;15937485;15790808;15723659;15653682;15635413;15489334;15456891;15302935;15234984;15180989;15100233;15064416;14698290;14684699;14550546;12805565;12660252;12607005;12607003;12477932;12384589;12124628;12007281;11877377;11809878;11790298;11741547;11533665;11438675;11238951;11096100;10839544;19505873;22725639;10802669;10783165;10426999;10415333;10346816;9651580;9315668;11504724;10508516;12679336;17525332;14519663;17353931;10959836;15758953;19714462;20571869;20610542;16391231;18457437;21734400;20682289;18385154;18716619;20224574;20813000;16344560;18212065;19270065;19383352;19573080;19584272;19609304;19615732;19633668;19638463;19690177;19773279;19797051;19840389;19862546;19866438;19904603;19910469;19917125;20010693;20159242;20232390;20485362;20496165;16260778;18710941;19394292;20403813;21325134;17500065;17925232;19151086;15201865;22939629;16600870;18583988;23115235;12447395;20070254;20811636;21816818;15383534;21081666;21757780;21898661;22027841;21139048;21549307;21890473;21906983;22179609;22464731;21252943;22446626;22586326;15734743;21811815;15140983;22751105;23398456;23455922;23525106;15916964;18171670;21382013;22740413;22833675 10111 A5D6Y3;C9JNH8;E7EN38;E7ESD9;E9PM98;H7C0P8;H7C0V2;Q92878 ABBA01068804;ABBA01068805;AC004041;AC004042;AC116366;AF057299;AF057300;AK290597;AK307439;AMYH01015616;BC062603;BC073850;BC108282;BC136436;BC140005;CH471062;DB112912;DQ655928;NG_021151;NM_005732;U63139 AAB07119;AAD50325;AAD50326;AAH62603;AAH73850;AAI08283;AAI36437;AAI40006;BAF83286;EAW62328;EAW62329;EAW62330;NP_005723;Q92878 Hs.633509 1648638;1789340;1796646;1798710;1800690;1801622;1801858;1802348;1805004;1805092;1805228;1805264;1805702;1807342;1807946;1807948;1808590;1809300;1810468;1813454;1814464;1814832;1816896;1818484;1819054;1822436;1822438;1822962;1825728;1825900;1826144;1826306;1827962;1829438;1831806;1832752;1832754;1832846;1833114;1833180;1833244;1834044;1834150;1834392;1835884;1836280;1837012;1837646;1838730;1839002;1839510;1839898;1840642;1840704;1841856;1842850;1844434;1844506;1845080;1845138;1845486;1845564;1846976;1999626;1999628;1999630;1999632;1999634;1999636;1999638;1999640;1999642;1999644;1999646;1999648;1999650;1999652;1999654;1999656;1999658;1999660;1999662;1999664;1999666;1999668;1999670;1999672;1999674;1999676;1999678;1999680;1999682;1999684;1999686;1999688;1999690;1999692;1999694;1999696;1999698;1999700;1999702;1999704;1999706;1999708;1999710;1999712;1999714;1999716;1999718;1999720;1999722;1999724;1999726;1999728;1999730;1999732;1999734;1999736;1999738;1999740;1999742;1999744;1999746;1999748;1999750;1999752;1999754;1999756;1999758;1999760;1999762;1999764;1999766;1999768;1999770;1999772;1999774;1999776;1999778;1999780;1999782;1999784;1999786;1999788;1999790;1999792;1999794;1999796;1999798;1999800;1999802;1999804;1999806;1999808;1999810;1999812;1999814;1999816;1999818;1999820;1999822;1999824;1999826;1999828;1999830;1999832;1999834;1999836;1999838;1999840;1999842;1999844;1999846;1999848;1999850;1999852;1999854;1999856;1999858;1999860;1999862;1999864;1999866;1999868;1999870;1999872;1999874;1999876;1999878;1999880;1999882;1999884;1999886;1999888;1999890;1999892;1999894;1999896;1999898;1999900;1999902;1999904;1999906;1999908;1999910;1999912;1999914;1999916;1999918;1999920;1999922;1999924;1999926;1999928;1999930;1999932;1999934;1999936;1999938;1999940;1999942;1999944;1999946;1999948;1999950;1999952;1999954;1999956;1999958;1999960;1999962;1999964;1999966;1999968;1999970;1999972;1999974;1999976;1999978;1999980;1999982;1999984;1999986;1999988;1999990;1999992;1999994;1999996;1999998;2000000;2000002;2000004;2000006;2000008;2000010;2000012;2000014;2000016;2000018;2000020;2000022;2000024;2000026;2000028;2000030;2000032;2000034;2000036;2000038;2000040;2000042;2000044;2000046;2000048;2000050;2000052;2000054;2000056;2000058;2000060;2000062;2000064;2000066;2000068;2000070;2000072;2000074;2000076;2000078;2000080;2000082;2000084;2000086;2000088;2000090;2000092;2000094;2000096;2000098;2000100;2000102;2000104;2000106;2000108;2000110;2000112;2000114;2000116;2000118;2000120;2000122;2000124;2000126;2000128;2000130;2000132;2000134;2000136;2000138;2000140;2000142;2000144;2000146;2000148;2000150;2000152;2000154;2000156;2000158;2000160;2000162;2000164;2000166;2000168;2000170;2000172;2000174;2000176;2000178;2000180;2000182;2000184;2000186;2000188;2000190;2000192;2000194;2000196;2000198;2000200;2000202;2000204;2000206;2000208;2000210;2000212;2000214;2000216;2000218;2000220;2000222;2000224;2000226;2000228;2000230;2000232;2000234;2000236;2000238;2000240;2000242;2000244;2000246;2000248;2000250;2000252;2000254;2000256;2000258;2000260;2000262;2000264;2000266;2000268;2000270;2000272;2000274;2000276;2000278;2000280;2000282;2000284;2000286;2000288;2000290;2000292;2000294;2000296;2000298;2000300;2000302;2000304;2000306;2000308;2000310;2000312;2000314;2000316;2000318;2000320;2000322;2000324;2000326;2000328;2000330;2000332;2000334;2000336;2000338;2000340;2000342;2000344;2000346;2000348;2000350;2000352;2000354;2000356;2000358;2000360;2000362;2000364;2000366;2000368;2000370;2000372;2000374;2000376;2000378;2000380;2096170;2096172;2096174;2096176;2096178;2096180;2096182;2096184;2096186;2096188;2096190;2096192;2096194;2096196;2096198;2096200;2096202;2096204;2096206;2096208;2096210;2096212;2096214;2096216;2096218;2096220;2096222;2096224;2096226;2096228;2096230;2096232;2096234;2096236;2096238;2096240;2096242;2096244;2096246;2096248;2096250;2096252;2096254;2096256;2096258;2096260;2096262;2096264;2096266;2096268;2096270;2096272;2096274;2096276;2096278;2096280;2096282;2096284;2096286;2096288;2096290;2096292;2130540;2177874;5093392 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NBSLD;RAD50-2;RAD502;hRad50 DNA repair protein RAD50;OTTHUMP00000065927 APPROVED protein-coding ENSG00000113522 9816 04950 604040;613078 REVIEWED 1316727 RAD51 RAD51 recombinase The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 15 15 q15.1 38774651 38811648 + 40987327 41024356 + 1580863;2292636;2292635;2292634;2298723;2292638;2298722;2292632;2292637;6480464;6907045 17180310;17942895;17999359;15924337;17219426;17301259;18429825;16624550 19124506;11248061;7988572;12442171;17515903;8929543;8358431;12427746;11309417;9826763;10438626;11080452;12606939;19622740;19606696;19584272;19573080;19549356;19536092;19427856;19426727;19386720;19329439;19303847;19285032;19253839;19251090;19237606;19214744;19165339;19150983;19140342;19133161;15965906;15958648;15944450;15766559;15750625;15734952;15713648;15671039;15665856;15611070;15489334;15466868;15330855;15313891;15226506;15165851;15138485;15123651;15102670;15095978;15064730;15036125;14724582;14599770;14559999;12917330;12883740;12826751;12750285;12750242;12673366;12650908;12619154;12477932;12359753;12242698;12242278;12239151;12226092;12205100;12077133;12036913;12023982;11935313;11867550;11842113;11839741;11839740;11839739;11809887;11782381;11691922;11684015;11580245;11535547;11477095;11337467;11278509;11256631;19122145;19117011;19116388;19097142;19092295;19074885;19071013;19064572;19064565;19060884;19027952;19010915;19004837;18990028;18978339;18977234;18974064;18950845;18840682;18794841;18768166;18761348;18756535;18752184;18676680;18632222;18618591;18617519;18581889;18570881;18544565;18535008;18439040;18417535;18413737;18317453;18256600;18203022;18173750;18033323;17947332;17889711;17761709;17709342;17685459;17672918;17666788;17639080;17616806;17591918;17557904;17549502;17544928;17515904;17513613;17483448;17483304;17302439;17118968;17078101;17063276;17007294;17001309;16979659;16902145;16890287;16843501;16837909;16723430;16644292;16638864;16629903;16624636;16596227;16516153;16477874;16475125;16432240;16427610;16398215;16395335;16367760;16261408;16215984;16186822;16169070;16018971;16000324;9405383;11950880;11498787;17353931;10959836;14530271;15800615;11799066;11239456;11154282;11005857;11002423;10998058;10851248;10851081;10807537;10619018;10562567;10493508;10446958;10390347;10212258;10082566;9891849;9880493;9774970;9607320;9461559;9396801;9380510;9321665;9192668;9126738;9121429;9008167;8921390;8816780;8812453;8703992;8675009;8617246;8610150;8479919;8188269;17090598;16983346;16511829;14755242;14580352;15065660;14636569;12815053;11313963;9811893;9560268;9523196;21104022;21239234;20713120;21409565;20602259;20610542;20623332;20640595;20644561;20804747;21397596;21110082;23285190;20189471;20215422;20236180;20413593;21056573;20299221;16914443;18769160;19549900;20731661;20813000;20092964;20729832;10551859;12379650;15800651;15899844;16415210;16428451;16756962;16990250;18449195;18834951;19157634;19170196;19396164;19505457;19540122;19587234;19625176;19628690;19632996;19661089;19671671;19690177;19692168;19725871;19772428;19773279;19789190;19884492;19914098;19952118;19956565;19960343;19996105;20002770;20004634;20054644;20107607;20150366;20154705;20188668;20207730;20348101;20358297;20368715;20373286;20396943;20400964;20453000;20454923;20461453;20496165;20522537;20729858;20729859;20871616;20817928;20890127;22587838;21423218;21501635;21732698;17802824;21113733;21103343;21464277;21789034;22865450;19584259;19995904;20332121;21708019;21725594;21810436;16793542;16920159;17118963;21176850;21704413;21725251;19338310;23300655;21601571;21670257;22863883;21653319;21107697;21363882;21915862;22174876;15316005;21857994;21858113;21998700;22013044;22102073;21987080;21076401;21486569;21744352;21952639;22275364;21139048;21890473;21906983;22634097;22789542;23341130;21729596;17541404;18562274;21988832;22729783;21740187;22325354;22613844;20625943;21773671;21926087;22362735;22580645;20301425;22274865;22305526;22611952;18247557;19671661;22645136;19766185;22935458;23277564;21965664;23065657;23065228;23401855;23161237;23091899;19275579;21252223;22778135;23149936;23266955;21399666 5888 E9PI54;E9PJ30;E9PNT5;H0YD61;Q06609;Q9NZG9 ABBA01038434;ABBA01038435;ABBA01038436;AC012476;AC022405;AF165088;AF203691;AF233740;AK131299;AK291969;AK303089;AK313503;AMYH01006565;AMYH01006566;AU100170;AY196785;AY425955;AY608888;BC001459;BT019705;CH471125;CR536559;D13804;D14134;EU362635;NG_012120;NM_001164269;NM_001164270;NM_002875;NM_133487 AAD49705;AAF61901;AAF69145;AAH01459;AAN87149;AAR07948;AAT37157;AAV38511;ABY59731;BAA02962;BAA03189;BAD18467;BAF84658;BAG36283;BAG64200;CAG38796;EAW92431;EAW92432;EAW92433;EAW92434;EAW92435;NP_001157741;NP_001157742;NP_002866;NP_597994;Q06609 Hs.631709 1663566;1773685;1793910;1796648;2166149;2170924 D15S1195;D15S1311;PMC30636P1;RAD51_789;RH65435;STS-D14134 BRCC5;HRAD51;HsRad51;HsT16930;MRMV2;RAD51A;RECA BRCA1/BRCA2-containing complex, subunit 5;DNA repair protein RAD51 homolog 1;OTTHUMP00000160544;OTTHUMP00000231940;OTTHUMP00000231941;OTTHUMP00000231942;RAD51 homolog (RecA homolog, E. coli);RAD51 homolog A;RecA, E. coli, homolog of;RecA-like protein;recombination protein A;truncated RAD51 APPROVED protein-coding ENSG00000051180 9817 01557 179617 REVIEWED 1351559 RAD23B RAD23 homolog B (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011] 9 9 q31.2 109085365 109134291 + 110045517 110094475 + 1580863;6480464;6907045;7246920 22572993 15358861;8168482;10583946;10214908;19536092;19444904;19270000;19237606;19124519;19116388;19074885;18854777;18830263;18709642;18708406;18676680;18574675;17932354;17728339;17081983;16713569;16712842;16537713;16492920;16399771;16344560;16253613;15885096;15866714;15849729;15550378;15489334;15164053;15064313;14645509;14585839;12832454;12815074;12505994;12477932;12215374;11827521;11562482;11279143;11259578;10915768;10854423;10488153;9734359;8692695;8125298;7851894;17662948;19941824;20575039;20059542;9371639;9372923;18029348;20966902;22004425;19435460;16424905;19170196;19182904;19538122;19615732;19625176;19692168;19740755;19878615;20150366;20453000;20496165;20522537;21263130;23314748;10373495;16335966;22863883;22939629;10734143;16196087;17558393;15840729;19843543;20360068;21900206;22079093;17154534;19193609;19322201;18781797;20639865;21139048;21693764;21890473;21906983;21963094;21987572;22537386;22575648;16105547;20706999;21962512;23000965;23023329;10873465;15914671;19446504;22053931;22505724;22915658;9164480;9372924 5887 B7Z4W4;H0Y579;P54727;Q5W0S4;Q5W0S5 ABBA01042793;ABBA01042794;AI285544;AI375313;AK125226;AK223479;AK293532;AK297986;AK316189;AL137852;AL540969;AMYH01021614;AU125295;AW402384;AY165178;AY313777;BC015805;BC020973;BE894394;BG678535;BI460482;BQ230600;BQ277025;BQ774932;CA866470;CH471105;D21090;DC404422;NM_001244713;NM_001244724;NM_002874 AAH20973;AAN47194;AAP81008;ABM84652;ABM92180;BAA04652;BAD97199;BAG54170;BAG57014;BAH12700;BAH14560;EAW59016;EAW59017;NP_001231642;NP_001231653;NP_002865;P54727 Hs.521640 1788136;1788138;1788140;1788142;1788144;1798072;2115887;2135489;2164760;2186894;5037552 A006X46;D8S2279;D9S2006;G67265;G67266;G67267;G67268;G67269;RAD23B_1857;SGC32118;STS-T93562 HHR23B;HR23B;P58 OTTHUMP00000021857;RAD23, yeast homolog of, B;UV excision repair protein RAD23 homolog B;XP-C repair complementing complex 58 kDa;XP-C repair complementing protein;XP-C repair-complementing complex 58 kDa protein APPROVED protein-coding ENSG00000119318 9813 06772 600062 REVIEWED 1320493 RAD23A RAD23 homolog A (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] 19 19 p13.2 12917654 12925455 + 13056628 13064457 + 1580863;6480464;6907045 16189514;8168482;8808275;19161404;17408689;17098253;16924240;16713569;16430867;16105547;15489334;15321727;15057824;14645509;14557549;12970176;12477932;12200120;12079361;11827521;11788722;11571271;11426943;11259200;11196199;11087358;10915768;10854423;10488153;10373495;9846873;9636371;9490418;9371639;9164480;8692695;8037842;7851894;16120388;18054791;18234089;19285159;9153201;21047872;19913121;20628086;20614012;16405905;16799550;12643283;9372924;16712842;19615732;19724136;20496165;20522537;15064742;21163940;22863883;22939629;19292762;19620964;21784850;12938929;18781797;19850743;20639865;20972266;21139048;21890473;21900206;21906983;21963094;21987572;22178446;14621999;19013454;22575648;18654987;21676658;21742020;14706819;15949443;16396636;22315970;22428841;22542781;23260144;23314748;23357418;18485873;23000965;15004330;16007098;17935801;18514189;19458171;20012529;21318276;22053931;22505724;22970133 5886 A8K1J3;B4DDJ7;K7ELU6;K7ELW1;K7ENJ0;K7EQ16;P54725 AB209713;ABBA01029763;AC092069;AD000092;AF549209;AI057203;AI081136;AK289908;AK293219;AMYH01009497;BC014026;BC088364;BI832600;BP213821;BX448989;CH471106;D21235;DB456593;M77024;NM_001270362;NM_001270363;NM_005053;NR_072976 AAB51177;AAH14026;AAH88364;AAN39383;ADZ15914;BAA04767;BAD92950;BAF82597;BAG56758;EAW84333;EAW84334;NP_001257291;NP_001257292;NP_005044;P54725 Hs.643267 1734624;2126378;2134870;2155290;2186475;2190757 D19S631E;RAD23A;RH41793;SHGC-31478;STS-D21235;STS-M84739 HHR23A;HR23A;MGC111083 HR23A;RAD23, yeast homolog, A;UV excision repair protein RAD23 homolog A APPROVED protein-coding ENSG00000179262 9812 07191 600061 REVIEWED 1344706 RAD51B RAD51 paralog B The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Jul 2011] 14 14 q23-q24.2 67356262 68132367 + 68286496 69062738 + 1580863;6480464 9512535;9441753;19330030;19329439;18270339;15701685;15489334;14704354;14595808;12975363;12649198;12508121;12477932;12441335;12427746;12118380;11978964;11842113;11842112;11751636;11751635;11744692;10938124;10565301;9892177;9878257;9788630;9207106;8889548;6261043;4595808;15115758;15065660;19714462;20610542;19657362;20095854;20195514;20237344;20379614;20496165;20522537;21399635;22454379;21368091;22017238;19850743;21852249;22232737;21533530;20881960;23455636;21965664;23251661;23001122;22139419 5890 C9J5S9;C9JYJ0;F8WAY6;G3V4W9;H0YJ06;H0YJI5;Q86U92 ABBA01023691;ABBA01023692;ABBA01023693;ABBA01023694;ABBA01023695;ABBA01023696;ABBA01023697;ABBA01023698;ABBA01023699;ABBA01023700;ABBA01023701;ABBA01023702;ABBA01023703;ABBA01023704;ABBA01023705;AC004518;AK309787;AK310686;AL121595;AL121820;AL122013;AL133370;AL136294;AL157915;AL589168;AL597484;AMYH01005816;AMYH01005817;AMYH01005818;AMYH01005819;AMYH01005820;AMYH01005821;BC030219;BM671299;BQ101024;BX161515;BX248061;BX248766;CB051081;CH471061;CK823089;CR536560;DQ160197;NG_023267;NM_002877;NM_133509;NM_133510;U84138;U92074;Y15571 AAB63358;AAC32425;AAC32426;AAC39723;AAH30219;AAZ85144;ABM81852;ABM85007;CAA75680;CAD61950;CAD62357;CAD66573;CAG38797;EAW80957;EAW80958;EAW80959;NP_002868;NP_598193;NP_598194;O15315 Hs.172587 1337453;1340155;1342200;1643768;1660497;1680559;1693718;1695488;1705732;1707174;1707382;1708578;1719573;1723275;1723963;1725063;1725075;1725139;1725141;1739739;1750193;1761617;1765887;1768023;1771474;1779125;1783000;1794176;1857376;2128462;2137968;2141115;2144460;2149619;2159007;2171824;2179368;2186087;5093572 A009S05;AF044687;D12S1520;D14S1065;D14S1069;D14S119;D14S1298;D14S726;D14S854;G32798;G35445;G35677;G36048;G36163;G36211;G36243;G36244;PMC310823P14;RH118827;RH118833;RH118872;RH118931;RH122327;RH123690;RH124061;RH44933;RH45281;RH75459;SHGC-106176;SHGC-112295;SHGC-145611;SHGC-149304;SHGC-58637;SHGC-68637;SHGC-79171;SHGC-83454;SHGC-84474;SHGC-85078;WI-11790 MGC34245;R51H2;RAD51L1;REC2;hREC2 DNA repair protein RAD51 homolog 2;OTTHUMP00000212251;OTTHUMP00000212253;OTTHUMP00000212254;OTTHUMP00000212255;RAD51 homolog B;RAD51-like protein 1;RecA-like protein;recombination repair protein APPROVED protein-coding ENSG00000182185 9822 04255 602948 REVIEWED 1353541 RAD51AP1 RAD51 associated protein 1 12 12 12 p13.2-p13.1 6269995 6291258 + 4518317 4539475 + 4647950 4669213 + 1580863;6480464 22375013;9396801;18316552;17996711;17996710;15489334;14966907;14702039;12477932;8889548;21307306;17207965;20871616;19615732;20201926;20558539;22452920;16920159;21832049;21903585;19953087;23263487 10635 B4DUS5;F5H031;F5H1Y0;F5H4V6;F5H710;H0YFK6;H0YGT5;Q96B01 ABBA01048764;AC005832;AF006259;AK096930;AK290428;AK291948;AK300773;AK309706;AK316367;AL832243;AMYH01004197;BC005973;BC006992;BC016330;BU689445;CH471116;DC397655;NM_001130862;NM_006479 AAC39554;AAH06992;AAH16330;ADQ31726;ADZ15890;BAC04902;BAF83117;BAF84637;BAG62437;BAH14738;EAW88843;EAW88844;NP_001124334;NP_006470;Q96B01 Hs.730696 1687912;2108887 RAD51AP1_9157;RH93251 PIR51 OTTHUMP00000237992;OTTHUMP00000238160;OTTHUMP00000238544;OTTHUMP00000238545;RAD51-associated protein 1;RAD51-interacting protein protein-coding ENSG00000111247 16956 603070 VALIDATED 1350974 RAD51C RAD51 paralog C This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 17 17 q22 54124962 54166691 + 56769963 56811692 + 1580863;6480464;6907045;7240710 9469824;19237606;19124506;19064565;17114795;16395335;16215984;15489334;15292210;15170666;14716019;14704354;12975363;12966089;12477932;12427746;12118380;12036913;11842113;11842112;11751636;11751635;11744692;11459987;11410366;11331762;11034073;11034067;10888877;10749867;15115758;15065660;19714462;20697805;20723205;20952512;19451272;20400963;20400964;20496165;20522537;22451500;21616938;21832049;23117857;23176254;23512992;8889548;21409391;21990120;21980511;21965664;22476429;21139048;21906983;21963094;22843497;21750962;22167183;22370629;20301575;22379092;22752287;22797925 5889 E9PI66;H7C1R0;H7C2Q5;J3QKK3;J3QLB5;J3QLQ2;J3QR58;O43502;Q7KZJ0 AA304618;ABBA01041348;ABBA01041349;ABBA01041350;ABBA01041351;AC011195;AC025521;AF029669;AF029670;AI424321;AI914449;AK129738;AK290487;AK303363;AMYH01008513;AY623112;BC000667;BC064578;BC073161;BC093930;BC101485;BC107753;BC143259;BM987503;BT007339;CB243543;CH471109;NG_023199;NM_002876;NM_058216;NR_103872;NR_103873 AAC39604;AAC39605;AAH93930;AAI01486;AAI07754;AAP36003;AAT38108;BAF83176;BAG64422;EAW94430;EAW94431;EAW94432;EAW94433;EAW94434;NP_002867;NP_478123;O43502 Hs.412587 1675163;1691782;2217894 G42247;RAD51C_2685;WI-18519 BROVCA3;FANCO;MGC104277;R51H3;RAD51L2 DNA repair protein RAD51 homolog 3;OTTHUMP00000180604;OTTHUMP00000180606;OTTHUMP00000233439;R51H3;RAD51 homolog C, isoform 1;RAD51-like protein 2;yeast RAD51 homolog 3 APPROVED protein-coding ENSG00000108384 9820 04143 602774;613390;613399 REVIEWED 1312725 RAD52 RAD52 homolog (S. cerevisiae) The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. [provided by RefSeq, Jul 2008] 12 12 p13-p12.2 891516 929124 - 1021255 1058863 - 1580863;6480464;6907045 7774919;14734547;10438626;10921897;19237606;19124506;19092295;19074292;19064572;19064565;18990028;18676680;18593704;18449888;18313388;18270339;18203022;18086758;17040915;16956909;16638864;16367760;16018971;15958648;15670896;15571718;15205484;15205482;14690434;12883740;12750383;12477932;12379650;12376524;12372413;12370410;12191481;12139939;12036913;12023982;11809887;11691922;11571269;11456495;11081631;10744977;10673031;8921390;8812453;7797537;7526206;12077133;12659830;10212258;15766559;19714462;20610542;20644561;20190268;19170196;19506022;19530647;19536092;19625176;19661089;19692168;19789190;19799994;19996105;20081207;20150366;20453000;20496165;20522537;21148102;22860035;19338310;17118963;21804533;23209746;22001234;22318606;23188672;23339595;22899653 5893 E9PF95;F5GX32;F5GX95;F5H1K5;F5H3Q1;P43351;Q3MI84;Q5DR82;Q9Y5T7;Q9Y5T8;Q9Y5T9 ABBA01048834;ABBA01048835;AC004803;AF125948;AF125949;AF125950;AF187983;AK290047;AK292160;AK294709;AK299283;AK312026;AL558884;AMYH01004168;AY527412;AY540753;BC042136;BC104015;BC104016;BC104017;BC114507;BC114954;BC144458;CH471116;L33262;NG_017078;NM_134424;U12134;U27516 AAA85793;AAA87554;AAB05203;AAD24575;AAD24576;AAD24577;AAF05531;AAF05532;AAF05533;AAF05534;AAI04016;AAI04018;AAI14955;AAI60123;AAS00097;AAT44403;BAF82736;BAF84849;BAG34963;BAH11854;BAH12992;EAW88942;EAW88943;EAW88944;EAW88945;EAW88946;EAW88947;EAW88948;EAW88949;EAW88950;NP_602296;P43351 Hs.410355 1690015;1796650;1848423;1855744;2148518 G41790;RAD52_791;RH65139;SHGC-64053;WI-9332 DNA repair protein RAD52 homolog;OTTHUMP00000115419;OTTHUMP00000237799;OTTHUMP00000237801;recombination protein RAD52;rhabdomyosarcoma antigen MU-RMS-40.23 APPROVED protein-coding ENSG00000002016 9824 11855 600392 REVIEWED 1315846 RAD51D RAD51 paralog D The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011] 17 17 q11 30451514 30471001 - 33426811 33446888 - 1580863;6480464 9570954;17353931;19237606;18058226;16717288;16395335;15489334;15170666;15109494;14759258;12975363;12477932;12118380;11842113;11842112;11834724;11751636;11751635;11744692;10871607;10749867;10092526;9512535;15115758;15065660;20054644;20819778;20189471;14704354;16710300;19690177;20496165;20522537;21111057;21822267;22652533;22986143;21965664;22415235;22379092;22752287;23372765 5892 K7EJ58;K7EKG7;K7EMF1;K7EN92;K7ERM7;K7ESI1;K7ESL4;O76073;Q7Z790 AB013341;AB016223;AB016224;AB016225;AB018360;AB018361;AB018362;AB018363;AB020412;ABBA01011225;ABBA01011226;AC022916;AF034956;AK296241;AK301249;AK302450;AL117459;AMYH01008353;AY623116;BC002723;BC014422;BI916871;BX647297;CH471147;NG_031858;NM_001142571;NM_002878;NM_133629;NR_037711;NR_037712;Y15572 AAC39719;AAH02723;AAH14422;AAT38112;ABM83244;ABM86446;BAA25914;BAA31747;BAA31748;BAA31749;BAA33779;BAA33780;BAA33781;BAA33782;BAA34690;BAG58959;BAG62816;BAG63746;CAA75681;CAB55937;EAW80181;EAW80184;EAW80190;EAW80196;NP_001136043;NP_002869;NP_598332;O75771 Hs.631757 1684234;2110693 RAD51L3_3426;RH66172 BROVCA4;HsTRAD;R51H3;RAD51L3;Trad DNA repair protein RAD51 homolog 4;OTTHUMP00000163851;OTTHUMP00000163852;OTTHUMP00000163853;RAD51 homolog D;RAD51-like protein 3;recombination repair protein APPROVED protein-coding ENSG00000185379 9823 04261 602954;614291 REVIEWED 1604389 RAD54L2 RAD54-like 2 (S. cerevisiae) 3 3 3 p21.2 51551741 51675402 + 51636757 51672674 + 51575596 51697634 + 6480464 16713569;14702039;12477932;10961928;9872452;19692572;20379614;16212558;19394292;19471022;21139048;21693764;21906983;21987572;21252943;22505724 23132 B3KV54;E7EU19;H0Y760;Q9Y4B4 AB018352;ABBA01024522;ABBA01024523;ABBA01024524;ABBA01024525;AC092037;AC099050;AC113933;AF161443;AK023824;AK025049;AK026053;AK122683;AK304881;AK308456;AMYH01013178;AMYH01013179;BC001474;BC024298;NM_015106 AAF29003;AAH01474;AAH24298;ABM83116;ABM86312;BAA34529;BAG51226;BAG53666;BAG65618;NP_055921;Q9Y4B4 Hs.105399 1725507;1728497;2108941 G63686;RH119150;SRISNF2L__5314.2 ARIP4;FLJ21396;FLJ22400;HSPC325;KIAA0809;SRISNF2L OTTHUMP00000202773;OTTHUMP00000210982;RAD54-like protein 2;androgen receptor-interacting protein 4;helicase ARIP4 protein-coding ENSG00000164080 29123 10018 VALIDATED 1321600 RAD54L RAD54-like (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008] 1 1 p32 46486004 46516732 + 46713367 46744145 + 1580863;1599748;2317365;6480464;6907045;7240710 10362365;16540687 8805304;19147782;18676680;18617519;18270339;18203022;17660833;17545145;17417655;17054727;16862129;16710414;16520463;16344560;15975611;15489334;12614485;12477932;12205100;11459989;11289143;10640146;10449612;9774452;9321665;9192813;8889548;11799067;15782160;15806108;19170196;19573080;19625176;19692168;19773279;20496165;20522537;20610542;20813000;21906983;20301425 8438 A8K996;Q92698 AA582917;ABBA01050841;ABBA01050842;AK292611;AK297204;AL121602;AMYH01000586;AY623117;BC121059;BC121060;BM464345;BM678712;CH471059;DB048280;DB449264;NG_012144;NM_001142548;NM_003579;X97795 AAI21060;AAI21061;AAT38113;BAF85300;BAG59689;CAA66379;EAX06929;EAX06930;NP_001136020;NP_003570;Q92698 Hs.642042 1682920;1848897;2109733;2117603;2124723;2153360;5491675 MARC_7379-7380:996687836:1;RAD54L_8807;RH47045;RH70932;RH70950;RH93140;SHGC-74777 HR54;RAD54A;hHR54;hRAD54 DNA repair and recombination protein RAD54-like;OTTHUMP00000009440;RAD54 homolog APPROVED protein-coding ENSG00000085999 9826 04683 114480;603615;605027 REVIEWED 1604371 RAD54B RAD54 homolog B (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008] 8 8 q22.1 95453364 95556486 - 95384188 95487343 - 6480464;6907045 10362364;16428451;18029348;19218431;19124506;19012493;18718930;18463164;17585536;16945962;16189514;15489334;15164066;12477932;11884632;11782437;10851248;17353931;21145461;19536092;19690177;20522537;20687897;20610542;16344560;10737800;15146197;17567985;17118963;11181995;17405295;17417655;19471022;21890473;21906983 25788 E5RHN9;E5RI14;E5RJF7;O95073;Q9Y620 ABBA01037452;ABBA01037453;ABBA01037454;AC023632;AF086020;AF112481;AK290437;AK307516;AL133578;AMYH01018887;AMYH01018888;AP003534;BC001965;BC020668;BC033710;BF766767;BP872374;CH471060;CN356732;DA553267;NG_012878;NM_001205262;NM_001205263;NM_012415 AAD34331;AAH01965;AAH33710;BAF83126;CAB63724;EAW91712;EAW91713;EAW91714;NP_001192191;NP_001192192;NP_036547;Q9Y620 Hs.30561;Hs.744229 1697600;1735846;2107121;2109731 D8S1441E;FSBP__6757;RAD54B_2810;RH102311 FSBP;RDH54 DNA repair and recombination protein RAD54B;OTTHUMP00000165020;OTTHUMP00000165021;OTTHUMP00000226606;fibrinogen silencer binding protein;fibrinogen silencer-binding protein-like APPROVED protein-coding ENSG00000197275 17228 05049;09966 604289 REVIEWED 1321649 RAD9A RAD9 homolog A (S. pombe) This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 11 11 q13.1-q13.2 66915999 66922459 + 67159423 67165883 + 6480464 12628935;8943031;12791985;9872989;18029348;18936170;18842633;18316588;18215141;18156970;17511890;17493829;17395641;17081983;16814252;16731526;16479004;16365875;16216273;15871698;15773892;15558813;15556996;15489334;15326225;15314187;14988409;14966297;14611806;12941802;14500360;15897895;12766152;12734188;12709442;12578958;12477932;12228248;12049741;11994305;11944979;11907025;11799063;11573955;11551919;11395493;11340080;11278446;11077446;10852904;10777662;10620799;11572977;16189514;10713044;11971963;10846170;10359610;10884395;17583730;19913121;20628086;20188637;15983387;17575048;18616832;18794804;19411845;19523882;19535328;19536092;19615952;20081369;20305300;20545769;18162465;20457750;15146197;16712791;22925454;20940144;12400013;21858012;21139048;21900206;21991345;21978893;22034047;22586102;19330022;23066031;20424596;23383325;23028682;19464297 5883 F5H492;F5H4F1;F5H8A2;Q99638 AA708970;ABBA01024036;AK310213;AK315348;AMYH01003745;AP003419;AY766122;BC014848;CB164642;CH471076;CN402466;CR536508;NM_001243224;NM_004584;U53174 AAB39928;AAH14848;AAU89725;BAG37745;CAG38746;EAW74604;EAW74605;EAW74606;NP_001230153;NP_004575;Q99638 Hs.655354 1788578;1788580;1788582;1788584;1789995;2108381;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;G67560;G67561;G67562;G67563;PPP1CA_7858;csnprad9-pcr7-1 RAD9 DNA repair exonuclease rad9 homolog A;OTTHUMP00000236397;OTTHUMP00000236819;cell cycle checkpoint control protein RAD9A;hRAD9 APPROVED protein-coding ENSG00000172613 9827 04788 603761 REVIEWED 1345724 RAET1F retinoic acid early transcript 1F pseudogene 6 6 6 q24.1-q25.1 150965833 150966295 + 150272756 150273418 + 150231164 150231626 + 11827464 353089 ABBA01025669;AL583835;AMYH01016739;NG_005420 pseudo 16794 INFERRED 1346870 RAET1J retinoic acid early transcript 1J pseudogene 6 6 6 q24.1-25.1 151033587 151034418 + 150340566 150341597 + 150298962 150299825 + 11827464;11827464 345829 AL355497;NG_005361 pseudo 16796 INFERRED 1344389 RAET1K retinoic acid early transcript 1K pseudogene 6 6 6 q25.1 151053771 151060896 - 150362917 150367986 - 150319155 150326280 - 11827464 646024 ABBA01025669;AF425244;AL355497;AMYH01016740;NR_024045 Hs.560537 1699722;1758273 RH103466;SHGC-147881 pseudo ENSG00000218358 16797 PROVISIONAL 1317874 RAD9B RAD9 homolog B (S. pombe) 12 12 12 q24.11 110566764 110596591 + 109424483 109454274 + 110940005 110969891 + 6480464 14500360;12791985;16365875;15489334;14702039;14611806;12477932;22399810 144715 B4DX60;B4DYM6;C9JM93;H7BY23;J3KPN7;Q6WBX8 ABBA01005110;ABBA01005111;AC002350;AK058176;AK097665;AK124109;AK301826;AK302512;AMYH01004743;AY297459;BC037353;BC047645;BC068031;BI459646;CH471054;NM_152442 AAH47645;AAH68031;AAQ62859;BAB71704;BAC05138;BAC85774;BAG63272;BAG63788;EAW97920;EAW97921;EAW97922;EAW97923;EAW97924;EAW97925;EAW97926;NP_689655;Q6WBX8 Hs.97794 1697554 RH102285 FLJ40346;MGC75426 DNA repair exonuclease rad9 homolog B;OTTHUMP00000202792;OTTHUMP00000202793;OTTHUMP00000202794;OTTHUMP00000202796;OTTHUMP00000241441;cell cycle checkpoint control protein RAD9B;cell cycle checkpoint control protein RAD9B homolog;hRAD9B APPROVED protein-coding ENSG00000151164 21700 608368 VALIDATED 1346440 RAET1M retinoic acid early transcript 1M pseudogene 6 6 q25.1 151088549 151089346 + 150353905 150354702 + 11827464;11827464 353094 ABBA01025669;AL355497;AMYH01016740;NG_008390 pseudo 16799 INFERRED 1322405 RAET1E retinoic acid early transcript 1E This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] 6 6 q25.1 150251294 150253790 - 150204511 150217195 - 1580863;6480464 15240696;19436053;18544572;17470428;15026360;14574404;14508119;12975309;12732206;12477932;11827464;20054857;19688209;20219610;20237496 135250 E9PKJ6;Q3T1D4;Q8TD07 ABBA01025669;AF359243;AL355312;AMYH01016739;AY054974;AY069961;AY176317;AY252119;AY359075;BC101976;BC103694;CH471051;EF489426;NG_029833;NM_001243325;NM_001243327;NM_001243328;NM_139165 AAI01977;AAI03695;AAL11005;AAL58090;AAL76417;AAO22240;AAP15166;AAQ89434;ABR29881;EAW47781;EAW47782;EAW47783;NP_001230254;NP_001230256;NP_001230257;NP_631904;Q8TD07 Hs.511818 5037552 D8S2279 LETAL;MGC125308;MGC125309;N2DL-4;NKG2DL4;RAET1E2;RL-4;ULBP4;bA350J20.7 N2DL-4;NKG2D ligand 4;NKG2DL4;OTTHUMP00000017403;OTTHUMP00000017404;OTTHUMP00000229731;RAE-1-like transcript 4;RL-4;lymphocyte effector toxicity activation ligand APPROVED protein-coding ENSG00000164520 16793 16466 609243 REVIEWED 1605530 RAF1P1 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 4 4 4 p16.1 10721416 10723149 - 9865548 9867481 - 10256550 10258283 - 348910 ABBA01032517;AC006499;AMYH01013995;NG_003018 2115260 D4S572 pseudo 9830 INFERRED 1348923 RAF1P2 v-raf-1 murine leukemia viral oncogene homolog 1pseudogene 2 494550 18616 7247961 RAET1E-AS1 RAET1E antisense RNA 1 12477932;20967262 100652739 ABBA01025669;AL355312;AL583835;AMYH01016739;AW241754;BC016788;DB521065;FY211027;NR_045126;NR_045127 AAH16788 Hs.642734 RAET1G-AS1 miscrna ENSG00000223701 48994 VALIDATED 1343371 RAET1G retinoic acid early transcript 1G Members of the RAET1 family, such as RAET1G, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E (MIM 609243) and RAET1G differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008] 6 6 6 q24.1-q25.1 150972682 150978882 - 150279707 150285907 - 150238014 150244214 - 6480464 15240696;19424970;19223974;12477932;11827464;19688209;20219610;20304922;20379614 353091 C9JAK3;Q6H3X3 ABBA01025669;AK310157;AL583835;AMYH01016739;AY172579;AY172580;BC096719;BC098152;CH471051;NM_001001788 AAH96719;AAH98152;AAO22238;AAO22239;EAW47779;NP_001001788;Q6H3X3 Hs.558792 ULBP5 OTTHUMP00000017407;OTTHUMP00000212236;retinoic acid early transcript 1G protein;retinoic acid early transcript 1G pseudogene APPROVED protein-coding ENSG00000203722 16795 16467 609244 PROVISIONAL 1318758 RAET1L retinoic acid early transcript 1L RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008] 6 6 6 q25.1 151075909 151081313 - 150382959 150388361 - 150341266 150346668 - 6480464 16344560;11827464;12477932;19688209;20219610;20237496;19658097;23025544 154064 Q5VY80 ABBA01025669;AL355497;AMYH01016740;AY039682;BC131600;CH471051;DA442768;NM_130900 AAI31601;AAI48628;AAI53192;AAK91503;EAW47773;EAW47774;NP_570970;Q5VY80 Hs.558659 ULBP6 OTTHUMP00000017409;UL16 binding protein 6;retinoic acid early transcript 1L protein APPROVED protein-coding ENSG00000155918 16798 17949 611047 VALIDATED 1604337 RADIL Ras association and DIL domains 7 7 7 p22.1 4798391 4882417 - 4805266 4889861 - 4838740 4923335 - 6480464 17353931;17704304;16344560;16051602;15489334;15146197;14702039;12853948;12477932;11347906;11230166;16169070;16189514;15324660;16713569;20048162;21706016;23097489;23251661;23209302 55698 B7Z2I1;C9J7G0;F5H6X3;F8WEM1;Q9NW43 AB058752;ABBA01039430;ABBA01039431;ABBA01039432;AC092610;AK000997;AK001186;AK294745;AK296325;AK302549;AL136731;AMYH01016990;AMYH01016991;BC004919;BC117317;BC126311;BC143526;BG722917;BQ942667;CH236953;CH471144;CN365550;DA241653;EF560723;NM_018059 AAH04919;AAI17318;AAI26312;AAI43527;AAS07559;AAS07560;ABQ59033;BAA91459;BAA91543;BAB47478;BAH11867;BAH12316;BAH13739;CAB66665;EAL23966;EAW87300;EAW87301;EAW87302;EAW87303;NP_060529;Q96JH8 Hs.667336 1652983;1786342;2106567 GDB:1318549;PAPOLB_3611;SHGC-155747 FLJ10324;FLJ60975;KIAA1849;MGC161589;RASIP2 OTTHUMP00000200468;Rap GTPase interactor;ras-associating and dilute domain-containing protein protein-coding ENSG00000157927 22226 07663 611491 VALIDATED 5686921 RAI1-AS1 RAI1 antisense RNA 1 p11.2 100861516 BX366317;BX401587 Hs.624874 APPROVED miscrna 40496 1323051 RAE1 RAE1 RNA export 1 homolog (S. pombe) Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.31 55359552 55386926 + 55926145 55953519 + 1580863;6480464 9256445;15851029;10209021;12228227;9370289;18212744;17172455;15629720;15489334;14702039;12477932;11831386;11780052;11520456;11352911;10668806;9918853;8982867;15778465;21145461;20498086;20530257;16479161;10601273;16169070;18832153;19615732;20016259;22939629;23169621;20946988;16196087;21628590;20360068;22118674;21139048;21467841;21890473;21906983;22357847;19738201;19745842;21963094;23000965;23028327;23444366;21799930;22505724;22797925 8480 B0QZ36;B0QZ37;E9PPG9;E9PQ57;P78406 ABBA01052924;AI341915;AK055170;AK126024;AK292247;AK307966;AK309069;AK309743;AL109955;AL135939;AMYH01012009;AY336091;AY349350;BC103754;BC106923;BC106924;CH471077;NM_001015885;NM_003610;U84720 AAC28126;AAI03755;AAI06924;AAI06925;AAR04856;AAR24621;BAF84936;EAW75523;EAW75524;EAW75525;NP_001015885;NP_003601;P78406 Hs.371698 1665562;1680286;2114287;2114289;2133087;2150872 A001X02;A007F20;D20S740;G06282;G19734;RH91738 FLJ30608;MGC117333;MGC126076;MGC126077;MIG14;MRNP41;Mnrp41;dJ481F12.3;dJ800J21.1 OTTHUMP00000031366;OTTHUMP00000166110;OTTHUMP00000166111;OTTHUMP00000233932;OTTHUMP00000233933;homolog of yeast Rae1 (Bharathi) mRNA-associated protein of 41 kDa (Kraemer);mRNA export factor;mRNA export protein;mRNA-associated protein MRNP 41;mRNA-binding protein, 41-kD;migration-inducing gene 14;rae1 protein homolog APPROVED protein-coding 9828 11939 603343 REVIEWED 1343462 RAI4 retinoic acid induced 4 23453 9837 1350109 RAI5 retinoic acid induced 5 22972 9838 1317876 RAG1 recombination activating gene 1 The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008] 11 11 p13 36546139 36557851 + 36589563 36601312 + 1580863;1599402;1599403;6480464;6907045;7240710 8810255;9630231 21131235;17474147;19404965;19118899;19116388;19074885;18830263;18768869;18701881;18676680;18579371;18463379;18089566;17982069;17890453;17307402;17075247;16857995;16738334;16465622;16276422;16061569;15843554;15295705;15249552;14726805;14624253;14500629;12861017;12853125;12757263;12477932;12355431;12244173;12200379;12145704;12115231;11313270;11214319;11133745;11121059;10891452;10701853;10606976;10490593;9885222;9394797;9379036;9036966;8844221;8777717;8052633;8016130;2598259;1612612;1283330;19913121;20628086;20703256;20568250;20800603;20813000;20489056;19170196;19359154;19458910;19573080;19625176;19692168;19773279;19859091;19898481;20122409;20237496;20453000;20956421;22891626;21624848;21481940;21502542;22942284;21771083;21625022;21655267;21256161;22157821;22424479;22939624;23438597 5896 E9PPC4;P15918 ABBA01060845;AC139427;AMYH01003500;AY011903;AY130302;BC037344;CH471064;HH794624;M29474;NG_007528;NM_000448 AAA60248;AAG38421;AAH37344;AAM77798;CBX87169;EAW68118;NP_000439;P15918 Hs.677010;Hs.73958 1742575;1743421;1745583;1768834;1768872;1792780;1796654;1857130;2144654;2167422 GDB:197902;GDB:316201;GDB:624547;PMC164518P1;RAG1;RAG1_1421;SGC44589;SHGC-44589;SHGC-6028;STS-M29474 MGC43321;RAG-1;RNF74 OTTHUMP00000232775;RAG-1;RING finger protein 74;V(D)J recombination-activating protein 1;recombination activating protein 1 APPROVED protein-coding ENSG00000166349 9831 01556 179615;233650;601457;603554;609889 REVIEWED 1313706 RAG2 recombination activating gene 2 This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008] 11 11 p13 36570069 36576388 - 36613493 36619829 - 1580863;1599402;1599403;6480464;6907045;7240710 8810255;9630231 19404965;18463379;18089566;18033247;17982069;17476358;17075247;16344560;16111638;15949444;15843554;15489334;15295705;15249552;15025726;14726805;14624253;12897800;12861017;12757263;12477932;12355431;12200379;12145704;12115231;11214319;11134329;11123315;10892649;10891502;10601032;10330156;9885569;9760994;9742255;9036966;8521468;7963556;7774617;2360047;1832998;1428003;1283330;14530271;21131235;19359154;19573080;19773279;19859091;20234091;20237496;20568250;20813000;21481940;22737248;22841008;21624848;21625022;21655267;22157821;22287717;22424479;23438597;22984564;8777717 5897 E9PPU5;E9PQB9;P55895 ABBA01060845;AC139427;AF080577;AK292664;AMYH01003500;AW058148;AY011962;BC022397;BM457214;BM463455;CH471064;DB124002;DB142398;DB143931;DB146077;DB151960;DB165259;M94633;NG_007573;NG_033154;NM_000536;NM_001243785;NM_001243786;S78372 AAC35287;AAG38705;AAH22397;ABM82938;ABM86127;BAF85353;EAW68117;NP_000527;NP_001230714;NP_001230715;P55895 Hs.714519 1791318;1796656;2190819 PMC102178P2;RAG2;RAG2_770 RAG-2 OTTHUMP00000232776;V(D)J recombination-activating protein 2 APPROVED protein-coding ENSG00000175097 9832 08913 179616;233650;601457;603554 REVIEWED 737596 RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008] 3 3 p25 12600108 12680678 - 12625100 12705700 - 1580696;1580668;1580863;1357969;1580106;1302749;1626216;2293882;6480464;5686410;6484113;6907045;7240710 16172266;15886202;12835716;16508002;12843393;17310240;17126425;22177953 9624170;10433554;11520933;8929532;8063729;9069260;19492075;19380724;19363522;19357705;19298812;19206169;19133693;19122653;19058874;19047752;19037990;19020799;19011619;19001375;18952605;18794803;18715846;18708364;18660489;18592002;18483265;18472967;18465753;18356164;18316782;18294816;18241070;18182859;18064632;18006502;17998336;17889508;17724343;17635919;17603483;17603482;17572489;17462920;17428866;17397260;17332776;17277048;17243098;17097642;17081983;17064357;17018604;16964381;16924233;16909118;16883571;16862215;16803888;16707572;16575407;16569214;16565089;16537381;16465392;16413928;16364920;16332724;16301319;16266749;16239230;16172610;16086581;16029117;15925322;15899852;15849194;15845549;15711535;15710605;15674327;15666389;15664191;15662129;15657590;15653554;10969079;10869570;10837247;10783161;10620507;10585452;10576742;10531364;10523642;10523633;10498616;10497893;10486249;10454553;10373531;10329666;10205168;10064593;9867809;9823899;9819434;9710607;9689060;9671314;9553107;9523700;9488663;9446616;9315742;9234708;9230211;9153224;9115221;9099670;9091312;9001246;8939988;8929531;8911690;8910675;8900182;8889548;8876196;8816460;8756332;8753867;8710867;8702721;8692945;8621729;8530446;8408024;8394352;8393135;8349631;8349614;8321321;8157000;8125298;8084603;8035810;7939632;7791872;7782277;7766599;7731720;7730360;7644510;7628630;7517401;7477354;3616625;3003687;2993863;2955285;2475255;1846778;1639773;1612588;1611909;9658081;8887682;12734410;11463741;17666399;7744247;15591313;15489334;15485920;15470083;15451031;15314064;15302887;15211515;15122343;15075335;15067053;15041731;14688025;14623285;12975377;12954639;12925535;12865432;12851216;12717443;12691824;12682854;12663662;12626521;12620389;12551923;12490852;12477932;12429936;12391160;12374792;12360521;12244094;12237340;12127063;12087097;12010819;11997508;15618521;11971957;11948406;11853019;11788587;11784866;11756411;11751906;11733498;11604401;11447113;11427728;11409918;11350735;11325826;11306563;11226259;11171046;11134016;11044439;11005817;17353931;10757792;8663231;10887173;10611249;9261098;10848612;11969417;11676916;15031288;14724584;14654780;12379659;10922060;10882715;10369681;9154803;9150145;8628317;7969158;7862125;10557073;15854902;15150271;12774123;14597674;15778465;12079506;16041367;15866172;15752761;15705808;14724641;14654844;15688026;7559537;15035987;11585923;8307946;7523381;19913121;20071468;20489206;20543023;21514245;21215703;19895838;16504566;16537561;20052757;20688353;7935795;20389169;20630999;20234004;19029954;20212043;21336309;22711539;18332145;10712923;15459208;15520859;15935327;16093354;16330544;16837009;17614099;17979178;18022816;19595761;19633425;19638574;19638615;19710016;19718030;19730683;19737955;19801192;19802003;19805522;19812696;19825990;19881545;19917255;19953625;20086174;20159553;20230813;20302979;8332187;8332195;9069267;9144171;9765203;9808624;21048031;20679480;17699868;21419342;17409432;21207082;21348951;19667065;23076151;23105109;22738312;23383273;20372086;21577205;21617351;20039095;22389993;15943972;16649144;17314511;22752602;22922483;22833462;21871886;21917714;11585916;19197339;20947508;22138288;22222486;21122381;21808062;15385642;21881167;19953087;21139048;22556409;22081024;22110214;22096607;22131876;20686565;22262839;22447278;20301303;20301557;22421411;21988832;22935974;22939624;23153539;23352452;11697890;15215316;15936278;22020327;22464151;22605333;9311917;11741534;15118098;18556463;9632690;20868603;22225925;11231577;12488548;22678362;22907845;23118896;23157514;23360980;23610963;17889669;20364151;20404846;20854332;21892329;22103831;22826437;21139044;23455922;23517740;23087049 5894 B4E0X2;B4E1N6;H7C155;L7RRS6;P04049 ABBA01025197;ABBA01025198;ABBA01025199;ABBA01025200;AC018500;AC026170;AK226028;AK303561;AK303920;AK312248;AMYH01012986;AMYH01012987;AY271661;BC018119;BQ221862;BU683389;CH471055;DC342671;EU332868;HI376400;JX512459;L00212;NG_007467;NM_002880;X03484 AAA60247;AAH18119;AAP03432;ABY87557;AGC09606;BAG35180;BAG64584;BAG64848;CAA27204;CBX55729;EAW64134;EAW64135;NP_002871;P04049 Hs.159130 1671810;1725089;1741459;1742967;1767656;1796652;2116390;2146385;2160902;2177854;5021614;5093796 A009W45;D3S2870E;D3S4000;G15882;G32929;GDB:181223;GDB:217154;PZD00074_allele_9942870;RAF1_478;RH118840;SHGC-57030;STS-N27641 CRAF;NS5;Raf-1;c-Raf OTTHUMP00000160218;OTTHUMP00000207813;OTTHUMP00000209389;Oncogene RAF1;RAF proto-oncogene serine/threonine-protein kinase;murine leukemia viral (v-raf-1) oncogene homolog 1 (3611-msv);proto-oncogene c-RAF;raf proto-oncogene serine/threonine protein kinase APPROVED protein-coding ENSG00000132155 9829 01265 164760;611553;611554 REVIEWED 1318304 RAI1 retinoic acid induced 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008] 17 17 p11.2 17525512 17655492 + 17584787 17714767 + 1599405;1580863;6480464;7240710 12652298 19236431;17468296;17081983;16189514;15885892;15788730;15565467;15489334;12837267;12477932;11997338;11404004;11347906;10915763;10036180;21738487;20634891;20211142;20738874;20301487;20932317;20663924;21545756;21739587;19471022;21857958;21900206;23000965;23345394;21897445;22578325;22318606;22586326;23028815 10743 A8MXE8;E7EVZ3;J3QLL5;J3QR08;Q7Z5J4 AB058723;ABBA01009745;ABBA01009746;ABBA01009747;ABBA01009748;AC078903;AC122129;AJ230819;AJ271790;AJ271791;AL133649;AL834468;AL834486;AMYH01008159;AMYH01008160;AMYH01008161;AY172136;BC021209;CH471196;NG_007101;NM_030665 AAH21209;AAO31738;BAB47449;CAB63768;CAC20423;CAC20424;CAD39127;CAD39144;EAW55692;EAW55693;EAW55694;EAW55695;EAW55696;NP_109590;Q7Z5J4 Hs.655395;Hs.727059 1678637;1700052;1717313;1729446;1767101;1772691;2108889;2120305;2137102 AF021115;AF021118;D17S258;G09710;G37382;RAI1_9171;RH103639;RH122147;RH16212 DKFZp434A139;KIAA1820;MGC12824;SMCR;SMS OTTHUMP00000065594;Smith-Magenis syndrome chromosome region;retinoic acid-induced protein 1 APPROVED protein-coding ENSG00000108557 9834 07406 182290;607642 REVIEWED 1352284 RALGAPA1P Ral GTPase activating protein, alpha subunit 1 (catalytic) pseudogene 9 9 9 q31 78788197 78795149 + 107322649 107329907 + 108282828 108289987 + 26134 ABBA01042814;AL158070;AL161627;AMYH01021602;NG_004673 1685183;1689428;1714305;1849402 D14S1301;RH119933;RH1628;RH74830 DKFZp566D133;GARNL2;GARNL2P;bA235C23.1 APPROVED pseudo 23203 INFERRED 1353493 RAI2 retinoic acid induced 2 Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] X X X p22 21937489 21998776 - 17728092 17730428 - 17818169 17879457 - 1580863;6480464 10049581;16713569;16344560;16189514;15489334;14702039;12477932;10394933;15370543;21832049;21890473 10742 B2RBE9;B3KPD7;Q9Y5P3 ABBA01071580;ABBA01071581;ABBA01071582;ABBA01071583;AF136587;AI291859;AK056214;AK298873;AK314631;AL008711;AMYH01022119;AMYH01022120;BC027937;CH471074;CK902458;DA377448;DA648693;DC420191;DR005700;NG_016739;NM_001172732;NM_001172739;NM_001172743;NM_021785;NR_033348;NR_033349;Z93242;Z93929 AAD33688;AAH27937;BAG37196;BAG51649;BAG60991;EAW98933;EAW98934;EAW98935;NP_001166203;NP_001166210;NP_001166214;NP_068557;Q9Y5P3 Hs.446680 1686794;1703356;1710602;2155953;2219600 RAI2__5640;RH36543;RH94025;SHGC-68610;SHGC-83987 OTTHUMP00000022997;retinoic acid-induced protein 2 APPROVED protein-coding ENSG00000131831 9835 02199 300217 REVIEWED 1314269 RAI14 retinoic acid induced 14 5 5 5 p13.3-p13.2 34538244 34714519 + 34692275 34868474 + 34656433 34832717 + 6480464 16729964;17353931;16344560;16110356;15489334;15324660;14702039;12477932;11168586;11042181;10718198;18685082;16484223;19454037;20379614;20473970;22990118;22558309;19596686;20360068;21903422;21139048;21890473;21906983;20876399 26064 D6R9G4;D6R9G6;D6RB25;D6RB27;D6RBW6;D6RBY4;D6RDL2;D6RE17;D6REL2;D6RF74;E7EMX7;Q9P0K7 AB037755;ABBA01039265;ABBA01039266;ABBA01039267;AC016602;AC025754;AC026801;AF155135;AK023135;AK297964;AK308306;AK308455;AK314379;AL050011;AMYH01015019;AMYH01015020;AMYH01015021;AMYH01015022;AY317139;AY354204;BC028681;BC052988;CH471119;DA485361;DB036130;DN994273;NM_001145520;NM_001145521;NM_001145522;NM_001145523;NM_001145525;NM_015577 AAF44722;AAH52988;AAP84319;AAQ63889;BAA92572;BAG51161;BAG60275;CAB43236;EAW55898;NP_001138992;NP_001138993;NP_001138994;NP_001138995;NP_001138997;NP_056392;Q9P0K7 Hs.431400 1336473;1339530;1646676;1679161;1679423;1703360;1721921;1762067;2118187;2121154;2137401;2147330;2147332;5093268;7183235;7186190 A006H13;A009K29;D5S426;D5S663;G20803;G32618;G59993;RH15956;RH47263;RH65071;SHGC-145977;SHGC-3844;SHGC-68648;STS-Z40817 DKFZp564G013;KIAA1334;NORPEG;RAI13 OTTHUMP00000221025;OTTHUMP00000221026;OTTHUMP00000221029;OTTHUMP00000221030;OTTHUMP00000221031;OTTHUMP00000221032;ankycorbin;ankyrin repeat and coiled-coil structure-containing protein;novel retinal pigment epithelial cell protein;retinoic acid-induced protein 14 protein-coding ENSG00000039560 14873 09416 606586 VALIDATED 1351800 RALB v-ral simian leukemia viral oncogene homolog B This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008] 2 2 q14.2 120726884 120768756 + 121010414 121052286 + 1580863;6480464;6907045 17606711;17018283;22393054;2120779;7673236;11520933;19306925;18756269;18227351;17875936;17709381;17174914;15817490;15489334;14525976;12874025;12856001;12477932;12034722;11744922;9422736;8972729;2662142;16189514;20940393;20801877;19166349;19636851;20379614;9297626;21241894;21674799;22939629;21810610;21139048;22286270;22790202;22331470;22013078;22053931;22700969 5899 B4E040;C9J6B1;C9JQB3;C9JYR1;F8WEQ6;P11234;Q6ZS74 ABBA01045914;ABBA01045915;AC012363;AF493911;AK127675;AK303214;AK304588;AK312453;AMYH01010990;BC018163;BQ893549;BT006953;CH471103;M35416;NM_002881;X15015 AAA60250;AAH18163;AAM12625;AAP35599;AAY14800;ADZ15983;BAC87080;BAG35360;BAG64302;BAG65376;CAA33119;EAW95240;EAW95241;EAW95242;NP_002872;P11234 Hs.469820 1651253;1657179;1850783;1850785;1852344 A005V12;D2S2644;G20530;RH69131;WI-20388 GTP binding protein;OTTHUMP00000162132;OTTHUMP00000204385;OTTHUMP00000207262;OTTHUMP00000207264;RAS-like protein B;ras related GTP binding protein;ras-related protein Ral-B APPROVED protein-coding ENSG00000144118 9840 01550 179551 REVIEWED 1354223 RALA v-ral simian leukemia viral oncogene homolog A (ras related) The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008] 7 7 p15-p13 39629687 39714244 + 39663152 39747723 + 1580863;6480464;6907045 2662142;21346190;2550440;7673236;11520933;10051605;10848592;19414599;19306925;18948269;18756269;17875936;17709381;17606711;17540176;17524504;17237388;17174914;16964283;16344560;16177825;15950903;15920473;15817490;15809419;15592429;15489334;15231748;15130921;14597674;14525976;12874025;12856001;12853948;12839989;12690205;12624092;12509462;12477932;12034722;11744922;11406615;10889189;10329639;9688545;9488663;9422736;9207251;9188503;7623849;3292391;8939933;1903399;11786539;11167825;12842888;21199803;19802010;19822090;19901077;20018811;20379614;9297626;20579884;8889548;21282111;21170262;21634118;21645515;22939629;21810610;21441953;21822277;22013078;22330069;22442671;21139048;21906983;21890473;22053931;22790202;23000965;19322201;22700969;22761837 5898 C9JPE8;H7C3P7;P11233 AACC02000038;ABBA01058143;ABBA01058144;AC004837;AF086082;AF493910;AK026850;AK308109;AMYH01017190;AU132355;BC039858;BM930625;CH236951;CH471073;DC313757;M29893;NM_005402;X15014 AAA36542;AAH39858;AAM12624;CAA33118;EAL23994;EAW94122;EAW94123;NP_005393;P11233 Hs.6906 1337233;1337758;1649815;1649817;1729085;1790577;1856251;1856746;2142321;2164656;7185062;7185321 057XC3;A001Y43;D7S485;D7S668;G19799;GDB:1318322;HSC207_(7Gr393mb);NIB440;RH47850;Rasl1 MGC48949;RAL OTTHUMP00000158977;OTTHUMP00000207663;RAS-like protein A;Ras family small GTP binding protein RALA;ras-related protein Ral-A APPROVED protein-coding ENSG00000006451 9839 01549 179550 REVIEWED 1343955 RALGAPA2 Ral GTPase activating protein, alpha subunit 2 (catalytic) 20 20 20 p11.22 20447485 20767346 - 20321411 20641266 - 20370272 20693266 - 6480464 16490346;14702039;12477932;10574462;19520869;8619474;9110174;22450745;23382691 57186 H7BZA8;H7C1F9;H7C3X6;Q4VXU5;Q9ULE8 ABBA01054089;ABBA01054090;ABBA01054091;AK002211;AK022881;AK026194;AK127228;AL078634;AL121896;AL157718;AL161658;AMYH01011763;AMYH01011764;AY007097;AY007156;BC013749;BC171842;BE467241;CR990457;DQ310704;NM_020343 AAH13749;ABC33805;BAB14290;NP_065076;Q2PPJ7 Hs.472285 1648085;1651878;1659280;1665826;1670181;1714257;1718219;1729516;1751309;1769447;1849507;1852685;2138256;2157803;2158124;2168353;2174696 D20S1131;D20S42;D20S525E;D20S531E;G21263;RH119907;RH122879;RH47728;RH70079;SHGC-105200;SHGC-31698;WI-18168;WI-18172;Z94351;Z94638;Z94659;Z94689 AS250;C20orf74;FLJ12819;KIAA1272;RP11-470C13.2;bA287B20.1;dJ1049G11;dJ1049G11.4;p220 250 kDa substrate of Akt;OTTHUMP00000030391;RapGAPalpha2;akt substrate AS250;p220;ral GTPase-activating protein alpha subunit 2;ral GTPase-activating protein subunit alpha-2 APPROVED protein-coding ENSG00000188559 16207 VALIDATED 737281 RALBP1 ralA binding protein 1 RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010] 18 18 p11.3 9465530 9528106 + 9475530 9538106 + 1580863;2324917;6480464;6907045 17606711 10924126;11437348;7673236;9753634;9422736;10848592;19417134;19073149;18628450;18474607;18086001;17993611;17982077;17706599;17081983;17047155;16890208;16227629;16189514;16188027;16087181;15707977;15489334;15451561;15310755;12775724;12632061;12632060;12527936;12477932;12433796;11882656;11732624;10910768;9395447;8570186;14525976;7623849;12621024;12887920;15592429;15247912;19375851;19626587;20183533;12888294;21170262;22939629;21822277;21671802;21890473;21906983;22331470;10764745;23000965;23276796;23419874 10928 E7ENF8;J3QLT3;Q15311 AB209924;ABBA01049949;AK300845;AMYH01008804;AP005432;AY517554;BC013126;BF794440;BQ224100;BQ674032;BX352266;CH471113;L42542;NM_006788 AAB00103;AAH13126;AAT44527;ABM82530;ABW03389;BAD93161;BAG62496;EAX01601;EAX01602;EAX01603;EAX01604;EAX01605;NP_006779;Q15311 Hs.528993 1657899;1694564;1740249;1855320;5125038 D18S1082;D18S910E;G43251;RH80877;SHGC-32001 RIP1;RLIP1;RLIP76 76 kDa Ral-interacting protein;DNP-SG ATPase;OTTHUMP00000162351;dinitrophenyl S-glutathione ATPase;ral-interacting protein 1;ralA-binding protein 1 APPROVED protein-coding ENSG00000017797 9841 09013 605801 VALIDATED 731635 RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic) 14 14 14 q13.2 15871418 16142289 - 35077309 35348183 - 36007558 36278432 - 727202;6480464 12200424 10048485;18029348;19520869;16903783;15498464;15489334;15252450;15037602;14702039;12477932;19710015;19733229;20379614;20811636;21139048 253959 B9EK38;H0YJ04;H0YJB5;Q8ND69 AB020691;AB511280;ABBA01061507;ABBA01061508;ABBA01061509;ABBA01061510;AK022988;AK126975;AL050050;AL137818;AL160231;AL162311;AL834362;AMYH01005666;AMYH01005667;AMYH01005668;AMYH01005669;AY596970;AY596971;BC016305;BC042013;BC042045;BC150596;CH471078;DQ786317;NM_014990;NM_194301 AAH16305;AAH42013;AAH42045;AAI50597;AAI68361;AAT49271;AAT49272;BAA74907;BAB14349;BAC86772;BAH83561;CAB43250;CAD39026;EAW65868;EAW65869;EAW65870;EAW65871;NP_055805;NP_919277;Q6GYQ0 Hs.113150 1337486;1650056;1685183;1689428;1699874;1713437;1778722;1849402;1850382;2115978;2120219;2145503;2147391;2147862;2167766;2176840;2187219;5020242 A003M46;D11S2612;D14S1301;D14S253;D14S888;G35680;G35696;G35827;G36040;G36335;RH103545;RH119576;RH1628;RH44915;RH66560;RH74830;RH77860;SHGC-1397 DKFZp566D133;DKFZp667F074;GARNL1;GRIPE;KIAA0884;TULIP1 GAP-related interacting protein to E12;GAP-related-interacting partner to E12;GTPase activating RANGAP domain-like 1;GTPase activating Rap/RanGAP domain-like 1;GTPase-activating Rap/Ran-GAP domain-like 1;OTTHUMP00000244141;OTTHUMP00000244142;OTTHUMP00000244143;OTTHUMP00000244145;RalGAPalpha1;p240;ral GTPase-activating protein alpha subunit 1;ral GTPase-activating protein subunit alpha-1;tuberin-like protein 1 APPROVED protein-coding ENSG00000174373 17770 12324 608884 PROVISIONAL 1351009 RALGDS ral guanine nucleotide dissociation stimulator Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010] 9 9 q34.3 134962928 135014409 - 135973107 136024588 - 1580863;6480464;6907045 7972015;9365783;11520933;18948269;18417737;17992125;17709381;16368877;16007223;15208305;14749388;14702039;12477932;12464615;12105416;11889038;11840339;11788587;11455956;10718198;10653898;10545207;10498616;10085114;9400994;9302994;9155018;9038168;8631302;8094051;7809086;10922060;10783161;15031288;9150145;15856025;9516482;9564038;19801192;9154803;9297626;20936779;22738401;21525013;20448034 5900 B7Z753;E7ER93;E7ERZ0;F5H6M6;Q12967;Q5T7U6;Q6PCE1;Q6ZSD5;Q8N4Y1 AB037729;ABBA01032471;ABBA01032472;AF027169;AF295773;AF295775;AF295776;AF295777;AF295779;AF295780;AK000242;AK024575;AK056462;AK074114;AK090450;AK127524;AK301470;AL162417;AMYH01021796;AMYH01021797;BC021581;BC033198;BC040737;BC059362;BM805052;BY797688;CH471090;DB480866;DC339956;DR003030;HY002335;NM_001042368;NM_001271774;NM_001271775;NM_001271776;NM_006266;U14417 AAA52360;AAG02122;AAG10221;AAG10222;AAG10223;AAG10224;AAG10225;AAH21581;AAH33198;AAH59362;AAQ13414;ACT64399;ACT64400;BAA92546;BAB84940;BAC03431;BAC87018;BAG51718;BAH13489;EAW88037;EAW88038;EAW88039;EAW88040;EAW88041;EAW88042;NP_001035827;NP_001258703;NP_001258704;NP_001258705;NP_006257;Q12967 Hs.106185 1666055;1786916;2112842;2189389 D9S2134;MARC_3723-3724:991937466:5;RH11981;SHGC-112288 FLJ20922;RGDS;RGF;RalGEF OTTHUMP00000022458;OTTHUMP00000022459;OTTHUMP00000022460;ral guanine nucleotide dissociation stimulator;ral guanine nucleotide exchange factor APPROVED protein-coding ENSG00000160271 9842 03371 601619 VALIDATED 1344179 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 9 9 9 q33.3 100331657 100640072 + 128716874 129025264 + 129677053 129985445 + 6480464 12477932;10889189;10747847;9205841;19913121;20628086;16712791;15146197;16344560;16368877;20379614;21494904;21832049 9649 H0Y6A2;Q5JT61;Q8N5H4 AB002349;ABBA01043819;ABBA01043820;ABBA01043821;ABBA01043822;ABBA01043823;ABBA01043824;ABBA01043825;ABBA01043826;AF221098;AK299149;AL160169;AL356862;AL357623;AL450263;AMYH01021721;AMYH01021722;AMYH01021723;BC019329;BC032372;BC033708;BX648170;BY797926;CB162049;CH471090;CN266562;DB332662;DB521440;DR001330;NM_001190728;NM_001190729;NM_001190730;NM_014636 AAF65253;AAH19329;AAH32372;AAH33708;BAA20808;BAG61198;EAW87645;EAW87646;EAW87647;EAW87648;NP_001177657;NP_001177658;NP_001177659;NP_055451;Q5JS13 Hs.432842;Hs.606576;Hs.721343 1752527;1762825;1763143;1771865;1773977;1776373;1779990;1795356;2117154;2144939;2160339;2175588;2176980;5017845 A004S38;ANGPTL2;ANGPTL2_1565;RH12756;RH18171;RH46081;RH47940;RH48052;RH65801;SHGC-106409;SHGC-146600;SHGC-146875;SHGC-154241;WI-12530 KIAA0351;RALGEF2;RALGPS1A;RP13-225O21.1 OTTHUMP00000022161;OTTHUMP00000022162;OTTHUMP00000022164;OTTHUMP00000022165;Ral guanine nucleotide exchange factor RalGPS1A;RalGEF 2;ral GEF with PH domain and SH3-binding motif 1;ral guanine nucleotide exchange factor 2;ralA exchange factor RalGPS1;ras-specific guanine nucleotide-releasing factor RalGPS1 protein-coding ENSG00000136828 16851 11479 614444 VALIDATED 1603624 RALGAPB Ral GTPase activating protein, beta subunit (non-catalytic) 20 20 20 q11.23 33812295 33918296 + 36534900 36640918 + 37101486 37207504 + 6480464 17474147;16490346;15489334;15302935;14702039;12477932;12168954;11780052;10574462;19520869;21697133;21139048;21906983 57148 A2A2E9;A2A2F0;B4E2E8;Q9Y3G9 AB033045;AB621815;ABBA01052525;ABBA01052526;AK026771;AK123576;AK125260;AK125916;AK304242;AL035419;AL049868;AL132998;AL834436;AMYH01011906;BC010916;BC018668;BC036425;BC047482;BX641080;CH471077;CR936800;NM_020336 AAH10916;AAH18668;AAH47482;BAA86533;BAC85649;BAG54177;BAG65110;BAK64151;CAB61346;CAD39096;CAE46039;EAW76018;EAW76019;EAW76020;EAW76021;EAW76022;EAW76023;EAW76024;NP_065069;Q86X10 Hs.598850 1656669;1665172;1710652;1760161;1769074;2118889;2131524;2133798;2153198;2154428;2155866;2164932;2183675;2184371;5113916 D20S1028;D20S690;D20S795;RH48061;RH65522;RH67965;RH69489;RH98514;SHGC-132362;SHGC-2403;SHGC-52414;SHGC-81042;STS-AA024902;WI-13938;Z94367 DKFZp686N19168;DKFZp781M2411;FLJ43270;FLJ43928;KIAA1219;RP5-1100H13.1;RalGAPbeta;dJ1100H13.1 OTTHUMP00000030966;OTTHUMP00000030968;OTTHUMP00000178924;OTTHUMP00000178925;p170;ral GTPase-activating protein beta subunit;ral GTPase-activating protein subunit beta APPROVED protein-coding ENSG00000170471 29221 11133 VALIDATED 1323046 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 1 1 1 q25.2 151803392 151998084 + 176960923 177152468 + 178694300 178889238 + 1580863;6480464 17353931;15324660;14702039;12485849;12477932;12102558;10747847;15778465;21139048;21906983 55103 H0Y338;H7C2H2;Q86X27 ABBA01027826;ABBA01027827;ABBA01027828;AK001106;AK098470;AK301753;AL162255;AL355520;AL449106;AMYH01001525;AMYH01001526;BC045691;BC047391;CH471067;JA738811;NM_152663 AAH47391;BAA91506;BAC05311;BAH13547;CCF77058;EAW91027;EAW91028;EAW91029;EAW91030;NP_689876;Q86X27 Hs.632485 1648867;1692108;1696276;1699170;1718251;1762313;1774355;1797278;2156716;2168957;2172696;2178913;2185095;5109281 AL033694;ANGPTL1_2107;D1S1425;D1S2573;G16228;G34879;RH103165;RH122895;SHGC-146160;SHGC-57465;SHGC-75956;SHGC-75968;SHGC-75984;SHGC-83672 FLJ10244;FLJ25604;KIAA0351;dJ595C2.1 OTTHUMP00000033050;OTTHUMP00000038515;Ral-A exchange factor RalGPS2;ral GEF with PH domain and SH3-binding motif 2;ralA exchange factor RalGPS2;ras-specific guanine nucleotide-releasing factor RalGPS2 protein-coding ENSG00000116191 30279 15206 VALIDATED 1606457 RALYL RALY RNA binding protein-like 8 8 8 q21.2 81099135 81838471 + 85258008 85996634 + 85095453 85834079 + 6480464 16344560;16189514;14702039;12688537;12477932;9110174;8619474;19447967;21110914;17207965;21942715;22178446;21906983;21628590;19001729;22505724 138046 B3KSX3;B3KT61;E5RG71;E5RIX9;E5RJ39;G3V129;Q86SE5 ABBA01004019;ABBA01004020;ABBA01004021;ABBA01004022;ABBA01004023;ABBA01004024;ABBA01004025;AC009901;AC012400;AC027043;AC087368;AC092699;AC092709;AC103816;AF070623;AF495529;AF495530;AK094543;AK095026;AK095560;AK123437;AMYH01018832;AMYH01018833;BC031090;CH471068;DA143105;DN989439;NM_001100391;NM_001100392;NM_001100393;NM_173848 AAH31090;AAO85516;AAO85517;ADQ31634;BAC85617;BAG52885;BAG52973;BAG53084;EAW87116;EAW87117;EAW87118;NP_001093861;NP_001093862;NP_001093863;NP_776247;Q86SE5 Hs.121663 1644619;1673094;1695154;1701500;1706154;1708028;1708758;1708898;1716851;1718071;1724269;1731987;1739783;1748609;1751491;1755327;1772018;1786558;1786866;2110903;2111328;2115906;2138659;2156423;2156604;2163095;2168003;2183901 A007D23;D8S1143;D8S1174;D8S1339E;D8S1678E;D8S340E;D8S461;D8S582;G48217;RH104383;RH11959;RH121277;RH121719;RH122653;RH77923;RH78035;SHGC-105292;SHGC-110272;SHGC-112019;SHGC-142212;SHGC-34573;SHGC-36934;SHGC-70136;SHGC-79499;SHGC-80120;SHGC-81374;SHGC-81608;WI-21455 HNRPCL3 OTTHUMP00000227058;OTTHUMP00000227059;OTTHUMP00000227060;OTTHUMP00000227063;OTTHUMP00000227064;OTTHUMP00000227704;RNA-binding Raly-like protein;hRALYL;heterogeneous nuclear ribonucleoprotein C-like 3;hnRNP core protein C-like 3 protein-coding ENSG00000184672 27036 11236 614648 VALIDATED 735949 RAMP1 receptor (G protein-coupled) activity modifying protein 1 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. [provided by RefSeq, Jul 2008] 2 2 q36-q37.1 238432926 238485495 + 238768187 238820756 + 1580863;6480464 9620797;18725456;18593822;18240900;18198792;17785463;17493758;17310067;16912219;15613468;15489334;15300632;15245870;14722252;12684503;12574158;12565884;12477932;12446722;12419522;12234182;12093471;11973435;11937264;11847213;11754963;11733510;11693189;11535606;11060459;10385705;10354609;22484227;12036966;18039931;18240029;19710695;20100989;20188075;20933260;10882736;22949393;23251661;22208649;23237777 10267 E9PC20;O60894 ABBA01042597;ABBA01042598;ABBA01042599;AC012076;AC016776;AI017108;AJ001014;AMYH01011599;AY265457;BC000548;BM126103;CH471063;CR542032;CR542044;NM_005855 AAH00548;AAP23298;AAY14674;AAY24219;ABM82831;ABM86017;CAA04472;CAG46829;CAG46841;EAW71127;NP_005846;O60894 Hs.471783 1652757;2106581 RAMP1__3761;WI-15143 CRLR activity-modifying protein 1;OTTHUMP00000164475;calcitonin receptor-like receptor activity modifying protein 1;calcitonin-receptor-like receptor activity-modifying protein 1;receptor (calcitonin) activity modifying protein 1;receptor activity modifying protein 1;receptor activity-modifying protein 1 APPROVED protein-coding ENSG00000132329 9843 05515 605153 REVIEWED 735315 RAMP2 receptor (G protein-coupled) activity modifying protein 2 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008] 17 17 q12-q21.1 38166738 38168585 + 40913212 40915059 + 1580863;61729;704370;1642684;1642701;1642678;1625300;1642679;1642682;1625307;1642683;1625319;1642686;6480464 10733909;12623952;16987513;14717924;17437045;16450076;15797661;11600589;17335899;17068622;16713642;15680493 10882736;9620797;18835256;18593822;17671114;16912219;16531504;16410241;15613468;15489334;15300632;15245870;12565884;12477932;12446722;12419522;12093471;11973435;11754963;11591721;11387328;11060459;10767413;10354609;10217420;14722252;19913121;20628086;12036966;18577758;18240029;19210874;20074556;16964401;18097473;22102369 10266 K7EKQ3;K7EMD3;K7ENJ8;K7EPN3;O60895 ABBA01006409;AC100793;AJ001015;AL548945;AMYH01008398;AY265458;BC027975;CH471152;EF687002;NM_005854 AAH27975;AAP23299;ABM84247;ABM87635;ABS28868;CAA04473;EAW60877;EAW60878;NP_005845;O60895 Hs.514193 1664353;2217896 RAMP2_3760;STS-N93656 CRLR activity-modifying protein 2;calcitonin receptor-like receptor activity modifying protein 2;calcitonin-receptor-like receptor activity-modifying protein 2;receptor (calcitonin) activity modifying protein 2;receptor activity modifying protein 2;receptor activity-modifying protein 2;receptor-activity-modifying protein 2 APPROVED protein-coding ENSG00000131477 9844 05516 605154 REVIEWED 6893212 RAMP2-AS1 RAMP2 antisense RNA 1 17 q21.31 40905932 40913275 - 12477932;14702039;21139048 100190938 ABBA01006409;AC100793;AK057121;AMYH01008398;BC001607;BC018638;BC033118;BC034924;BC041021;NR_024461;NR_024462 AAH01607;AAH18638;AAH33118;AAH34924 Hs.655265 1335294;1664353;5015861;5015961;5022200;5022450;5022651;5037552;7185938;7187470 D10S16;D10S275;D11S2921;D15S1477;D7S511;D8S2279;L18426;STS-N93656 miscrna ENSG00000197291 44358 VALIDATED 1316295 RALY RALY heterogeneous nuclear ribonucleoprotein This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 20 20 20 q11.21-q11.23 29334503 29420881 + 32045393 32131728 + 32581458 32670991 + 1580863;6480464 9376072;17081983;16807684;16713569;15489334;12477932;11991638;11780052;10500250;8125298;7533788;16169070;21145461;19615732;20379614;21110914;22939629;8889548;20508642;23455922;23614458;23667531;20618440;20360068;22178446;21139048;21890473;21906983;23182705;19738201;22365833;22994768;23000965;22976474;21853274;22505724 22913 Q53GL6;Q5QPL9;Q5QPM0;Q5QPM1;Q5QPM2;Q9UKM9 ABBA01019212;ABBA01019213;ABBA01019214;AF148457;AK222915;AK226085;AK291054;AK291079;AK299766;AL031668;AL034549;AMYH01011861;AY635580;BC103753;BC105018;BG751407;BM680768;CH471077;L38696;NM_007367;NM_016732 AAC28898;AAF04487;AAI03754;AAI05019;BAD96635;BAF83743;BAF83768;BAG61653;EAW76287;EAW76288;EAW76289;EAW76290;EAW76291;NP_031393;NP_057951;Q9UKM9 Hs.136947 1678057;1682293;1693360;2118379;2119162;2134325;2157846;5494165 A005P05;AL034538;D20S534E;D20S811;RH27241;RH65377;SGC31581;fb76e04.y1 HNRPCL2;MGC117312;P542 OTTHUMP00000030673;OTTHUMP00000030674;OTTHUMP00000030678;RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog);RNA-binding protein (autoantigenic);RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow);RNA-binding protein Raly;autoantigen p542;heterogeneous nuclear ribonucleoprotein C-like 2;hnRNP associated with lethal yellow protein homolog;hnRNP core protein C-like 2 APPROVED protein-coding 15921 11480 614663 REVIEWED 1352244 RANBP20P RAN binding protein 20 pseudogene 14 14 14 q11.2 1049844 1052180 - 20258704 20261240 - 21188964 21191300 - 326627 ABBA01061235;AL163636;AMYH01005590;NG_002609 1745981 RH125206 pseudo 19734 INFERRED 737378 RAMP3 receptor (G protein-coupled) activity modifying protein 3 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008] 7 7 p13-p12 45163892 45190374 + 45197367 45223849 + 1580863;6480464 20034525;10882736;9620797;18835256;18593822;16912219;16410241;15805108;15613468;15489334;15342556;15300632;14702039;14615490;12939163;12853948;12690205;12565884;12477932;12446722;12419522;12093471;11973435;11693189;11591721;11387328;11060459;10385705;10354609;8125298;16169070;14722252;19913121;20628086;18577758;17207965;12036966;18240029;19886671;20802105;22445753 10268 A4D2L1;J3KR56;O60896 AACC02000110;ABBA01058248;ABBA01058249;AC004844;AC013416;AJ001016;AK128765;AK222469;AK311871;AMYH01017221;AY265459;BC022304;BC053852;BP347072;CH236960;CH471128;NM_005856 AAH22304;AAH53852;AAP23300;ABM82297;ADQ33063;BAD96189;BAG34812;CAA04474;EAL23743;EAW61048;EAW61049;EAW61050;NP_005847;O60896 Hs.25691 2147898 RH36315 CRLR activity-modifying protein 3;OTTHUMP00000159549;OTTHUMP00000214279;OTTHUMP00000214280;calcitonin receptor-like receptor activity modifying protein 3;calcitonin-receptor-like receptor activity-modifying protein 3;receptor (calcitonin) activity modifying protein 3;receptor activity modifying protein 3;receptor activity-modifying protein 3;receptor-activity-modifying protein 3 APPROVED protein-coding ENSG00000122679 9845 05517 605155 REVIEWED 1321469 RANBP1 RAN binding protein 1 This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q11.21 18485024 18494704 + 20105024 20114704 + 1580863;6480464 7616957;7882974;17353931;16130169;19270727;17940066;16428860;15461802;15459234;14702039;14585972;12840069;12477932;10779340;11804793;10811801;10330396;9111043;8255297;8125298;7891706;10601307;10473610;21184585;19549784;20508983;20658144;18160415;22863883;22939629;9045717;9315840;20805321;21813642;10037787;12649209;20360068;21139048;21890473;21906983;19322201;12393906;7603572;8909533;10318915;10454574;10471274;10995230;11278834;11832950;12606574;12852855;16041368;17110338;19738201;21998203;22053931;22833565;23000965;9271386;9428644;18187620;19149558;22190034;22505724;22797925 5902 B3KUP2;C9JDM3;C9JGV6;C9JIC6;C9JJ34;C9JXG8;F8WCY3;H7C137;P43487 ABBA01005394;AC006547;AK094410;AK097659;AK223506;AK293502;AK300927;AMYH01012483;AMYH01012484;AW404614;BC071998;BG717186;BI916757;CA489474;CH471176;CR456556;D38076;DB459798;DC397929;HY229989;NM_001278639;NM_001278640;NM_001278641;NM_002882;X83617 AAI52786;BAA07269;BAD97226;BAG53504;BAG56987;BAH13377;CAA58592;CAG30442;CAK54587;CAK54886;EAX02986;EAX02987;EAX02988;EAX02989;EAX02990;EAX02991;EAX02992;EAX02993;EAX02994;NP_001265568;NP_001265569;NP_001265570;NP_002873;P43487 Hs.24763 1668654;1674009;1688406;2124361;2185842 G20657;RH17118;RH77824;SGC31575;WI-19818 HTF9A;MGC88701 HpaII tiny fragments locus 9A;OTTHUMP00000197515;OTTHUMP00000197594;OTTHUMP00000198444;OTTHUMP00000198445;OTTHUMP00000209649;ran-binding protein 1;ran-specific GTPase-activating protein APPROVED protein-coding ENSG00000099901 9847 03110 601180 REVIEWED 1343804 RANBP10 RAN binding protein 10 16 16 16 q22.1 52265494 52348990 - 66314506 66398056 - 67757005 67840555 - 6480464 18347012;16498413;14702039;14684163;12477932;12421765;12147692;10819331;20395553;22939629;23022380;19953087;21906983;22505724;22797925 57610 B3KP49;B4DHL9;B4DID0;B4DQH9;Q6VN20;R4GMX7;R4GMX8;R4GN91;R4GNA3 AB040897;ABBA01025455;ABBA01025456;ABBA01025457;AC010530;AC040162;AK000686;AK055634;AK055727;AK295171;AK295530;AK298806;AK304030;AMYH01007751;AMYH01007752;AY337313;BC099917;BC121176;BC121177;CH471092;NM_020850 AAH99917;AAI21177;AAI21178;AAR01220;BAA95988;BAG51561;BAG58181;BAG58442;BAG60941;BAG64944;EAW83167;EAW83168;NP_065901;Q6VN20 Hs.368569 1663745;1663747;1670966;1736612;2115138;2154371 A005P46;D16S2603E;G20405;SHGC-60652;SHGC-61152;SHGC-61185 FLJ31165;KIAA1464 ran-binding protein 10 protein-coding ENSG00000141084 29285 15207 614031 PROVISIONAL 1351414 RANBP2 RAN binding protein 2 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008] 2 2 q12.3 108702369 108768699 + 109335937 109402267 + 1580863;6480464;7240710 7603572;16332688;17353931;18394993;12228227;19171422;19118815;18946085;18691615;18305100;18080148;17887960;17168522;17081983;17069463;16964243;16688858;16620772;16586133;16565220;15931224;15826666;15815621;15608651;15388847;15378033;15302935;15144186;15037602;12963708;12393906;12192048;12191015;12138183;12032081;11854305;11792325;11709548;11553612;11353387;11266456;10601307;10473610;10318915;10078529;9733766;9480752;9398662;9244446;9144189;9114010;9037092;9019411;8857542;7882974;7775481;7724562;7559465;21145461;22155184;20473521;10601273;15632063;17098863;17911097;19299463;19305391;19654215;19807769;19811512;19828735;20085707;20936779;12894213;19454010;21256132;11839768;22939629;21179483;21518904;17264123;21568279;21670213;16196087;17314511;21859863;15840729;19596686;20360068;16314522;20547757;22110128;22262462;22318606;22464730;22586326;8909533;18239623;21995724;21139048;21693764;21890473;21906983;22178446;15174051;21963094;21988832;22190034;22678362;23000965;23353830;19471022;22194619;9456312;10668806;15161980;22053931;22174692;22505724;22956906 5903 F8WBP7;P49792 AA971491;AB209483;ABBA01000761;ABBA01000762;ABBA01000763;ABBA01000764;AC010095;AK025462;AK025711;AK026993;AMYH01010857;AY170822;D42063;DB525378;L41840;NG_012210;NM_006267;U19240;U19248 AAA85837;AAA85838;AAC41758;AAO13594;AAY14984;BAA07662;BAD92720;NP_006258;P49792 Hs.199561;Hs.715056 1645387;1673898;1683016;1857034;2120951;2182022;5016895 RH16188;RH18435;RH67924;RH78999;RH79061;RH98799;SHGC-36406 ANE1;IIAE3;NUP358;TRP1;TRP2 358 kDa nucleoporin;E3 SUMO-protein ligase RanBP2;OTTHUMP00000161606;OTTHUMP00000203472;P270;nuclear pore complex protein Nup358;nucleoporin 358;nucleoporin Nup358;ran-binding protein 2;transformation-related protein 2 APPROVED protein-coding ENSG00000153201 9848 03111 601181;608033 REVIEWED 1345238 RANBP17 RAN binding protein 17 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002] 5 5 5 q34 166321110 166759577 + 170221600 170659624 + 170288896 170727019 + 1580863;6480464 11024021;14702039;11071879;19913121;20628086;12477932;20503194;22939629;21906983;22589738 64901 E5RHX1;H0YAS2;H0YBM6;H0YBY7;Q546R4;Q8IU74;Q8IVM9;Q9H2T7 ABBA01044084;ABBA01044085;ABBA01044086;ABBA01044087;ABBA01044088;AC008514;AC010306;AC016574;AC018753;AC021077;AC091980;AF222747;AJ271459;AJ288952;AJ288953;AJ288954;AJ288955;AK027880;AK057478;AK298785;AK315159;AL832980;AMYH01015804;AMYH01015805;AMYH01015806;BC030953;CH471062;DC365649;NM_022897 AAG44255;AAI48560;BAB55427;BAB71504;BAG60924;CAC81055;CAC81806;CAC81807;CAC81808;CAC81809;CAH56326;EAW61454;EAW61455;EAW61456;EAW61457;EAW61458;EAW61459;EAW61460;EAW61461;EAW61462;EAW61463;EAW61464;NP_075048;Q9H2T7 Hs.410810 1337231;1647904;1780524;1780526;1780788;1785384;1849616;1849618;1850510;2142296;2155073;2175377;5093910;7190283;7190285 A005L27;A009Y40;D5S1910;D5S2399;D5S653;G20312;G32995;RH35915;SHGC-141902;WI-11325;bac51036S;bac51036T;bac52067T FLJ32916 OTTHUMP00000223302;ran-binding protein 17 APPROVED protein-coding ENSG00000204764 14428 05847 606141 VALIDATED 1348006 RAN RAN, member RAS oncogene family RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008] 12 12 q24.3 129922521 129927316 + 131356617 131360826 + 4144860;6480464;6484113;6907045 19965479 1961752;7878053;10400640;15572661;8421051;10408446;7603572;9405152;9837918;19389996;19208764;19138993;19060893;19047128;18845677;18708071;18690538;18617507;18591255;18565325;18347012;18287525;18268099;18266911;18241036;11777942;11774384;11571268;11447110;11425870;11420673;11310559;11290418;11042152;10944119;10786834;10779340;10679025;10567585;10518602;10397761;10394366;10369786;10353245;10318915;10209022;10202161;10078529;10037787;10022920;9822603;9817760;9660920;9637251;9562972;9533885;9368653;9323134;9323133;9219684;9214382;9135132;9114010;9045717;8757804;8692944;8643389;8576188;7891706;7885480;7744835;2108320;1855255;1602151;8146159;15522285;12070164;10811801;9102465;11336674;16169070;10508170;11782423;14592989;8896453;10367892;8896452;7627554;18205094;18003734;17761537;17671426;17426026;17081065;16930555;16807353;16572426;16572176;16449645;16428860;16368437;16294017;15761153;15691838;15635413;15632149;15592455;15574332;15574331;15489334;15383276;15014043;14758368;14684163;14675621;14612415;14600264;14585972;14500717;12477932;12415012;12384575;12211070;12194828;12176322;12138183;12134013;12101123;12051861;11809816;11779226;7615630;19505873;21319273;22679017;11932251;12649209;20547757;15014887;16428596;17158748;19435463;19549784;19559616;19596235;19753112;19765287;19851984;20028979;20081840;7882974;7988569;9111043;20585341;20721975;20942967;20732906;20819778;9802899;19454010;12453419;20658144;19135240;21670151;10827954;21195711;23084401;23106098;20565941;16196087;20805321;21625522;21630149;21364925;23536659;23798571;21033436;22863883;22939629;9315840;9428644;21692748;20360068;21081666;22081094;21813642;18781797;20639865;20972266;21139048;21139563;21890473;21906983;21963094;22178446;23468463;21320693;22114719;22360420;11024021;21907836;21998203;22145905;21909257;11032817;15545318;16009940;19322201;17828378;22090358;22266855;22318606;8909533;17110338;19738201;19805454;20828572;21988832;22053931;22623428;23000965;23118896;10228171;15576338;20951941;23160023;23398456;11832950;23308199;23455922;18508616;19149559;21358275;21853274;22174317;22355797;22505724;22783232 5901 AAB24940;B4DV51;B5MDF5;F5H018;H0YFC6;J3KQE5;Q9CSP3 AB062399;ABBA01019824;AC073912;AF052578;AF054183;AF501887;AK300934;AK312466;AK316193;AL357616;AMYH01004882;BC000852;BC004272;BC014518;BC014901;BC016654;BC022813;BC051908;BC072000;BT007271;CH471054;CR450347;M31469;NM_006325 AAA36546;AAB24940;AAC05840;AAC99400;AAH04272;AAH14518;AAH14901;AAH16654;AAH51908;AAH72000;AAM15923;AAP35935;ABM83284;ABM86491;BAB93486;BAG35373;BAG62563;BAH14564;CAG29343;EAW98515;EAW98516;EAW98517;NP_006316;P62826 Hs.10842 1651105;2171049;5106959;5117162 GDB:451538;RH44340;STS-M31469;WI-16177 ARA24;Gsp1;TC4 GTP-binding nuclear protein Ran;GTPase Ran;OK/SW-cl.81;OTTHUMP00000166077;OTTHUMP00000166078;OTTHUMP00000166102;OTTHUMP00000166103;OTTHUMP00000238588;RanGTPase;androgen receptor-associated protein 24;guanosine triphosphatase Ran;member RAS oncogene family;ras-like protein TC4;ras-related nuclear protein APPROVED protein-coding 9846 03109 601179 REVIEWED 1602423 RANBP3L RAN binding protein 3-like 5 5 5 p13.2 36134779 36187682 - 36284861 36337761 - 36249104 36302011 - 6480464 12477932;23151678 202151 D6RCM9;Q86VV4 ABBA01024167;ABBA01024168;AC008807;AC114277;AK058151;AK302947;AMYH01015026;BC017951;BC047660;CH471119;NM_001161429;NM_145000 AAH47660;BAB71689;BAH13852;EAW55942;EAW55943;EAW55944;NP_001154901;NP_659437;Q86VV4 Hs.729817 1335064;1660403;1755535;1765597;1781098;2173701;7186221;7186224;7186229 AFM303TH5;AFM303th5;D5S1750;D5S2085;G20937;SHGC-142390;SHGC-149050 FLJ25422 OTTHUMP00000161738;OTTHUMP00000221399;OTTHUMP00000221400;ran-binding protein 3-like protein-coding ENSG00000164188 26353 08064 VALIDATED 6481148 RANP2 RAN, member RAS oncogene family pseudogene 2 7 146864432 146864668 + 100874191 AACC02000041;ABBA01033580;AC092676;AMYH01018108;NG_032363 pseudo 39857 INFERRED 6481184 RANP3 RAN, member RAS oncogene family pseudogene 3 11 74363683 74363961 + 100874227 ABBA01017481;AP001324;NG_032364 pseudo 39858 INFERRED 5130798 RANP4 RAN, member RAS oncogene family pseudogene 4 X X X q26.3 136253069 136253732 - 135717048 135717705 - 135889385 135890048 - 100130621 ABBA01055946;AL683813;AMYH01023050;NG_022642 pseudo 39859 INFERRED 5130799 RANP5 RAN, member RAS oncogene family pseudogene 5 1 1 1 p13.3 107859592 107860258 + 109390971 109391628 + 109589436 109590102 + 100129428 ABBA01068363;AMYH01000928;BX679664;NG_022798 pseudo 39860 INFERRED 1346292 RANP1 RAN, member RAS oncogene family pseudogene 1 6 6 6 p21.33 32051791 32052853 + 30561551 30562800 + 30453662 30454724 + 16702430;10557312;20237496;21906983;21963094;21628590 221547 Q96QB7 AB014080;AB088093;AB103599;ABBA01038046;AL662822;AL662873;AL844213;AMYH01016204;BA000025;BX927143;BX936369;CR762481;NG_002749 BAB63329;BAC54924;BAF31259 2220166 D6S2786 Ras-like;TC4 pseudo 21631 INFERRED 6481145 RANP7 RAN, member RAS oncogene family pseudogene 7 3 22946143 22946631 + 100874192 ABBA01025052;AC114477;AMYH01013025;NG_032365 pseudo 39862 INFERRED 5130801 RANP6 RAN, member RAS oncogene family pseudogene 6 4 4 4 q34.1 171879641 171880293 - 174791209 174792097 - 174554882 174555534 - 100128266 ABBA01070380;AC079789;AMYH01014723;NG_022039 1651105 STS-M31469 pseudo 39861 INFERRED 5130796 RANP8 RAN, member RAS oncogene family pseudogene 8 13 13 2383186 2384136 - 21321246 21322196 - 100420519 ABBA01068592;AL512652;AMYH01004951;NG_024835 pseudo 39863 INFERRED 6481158 RANP9 RAN, member RAS oncogene family pseudogene 9 8 32897041 32897311 + 100874193 ABBA01023618;AC090204;AMYH01018631;NG_032366 pseudo 39864 INFERRED 1353984 RAP1AP RAP1A, member of RAS oncogene family pseudogene 14 14 14 q24.3 54987937 54989256 + 74019303 74020722 + 74949550 74950869 + 8449039 5907 ABBA01030717;AC005479;AMYH01005856;NG_004799;NG_007117 2139216 G38283 KREV1P;SMGP21A pseudo 9856 INFERRED 1602892 RANGRF RAN guanine nucleotide release factor This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 17 17 17 p13.1 8220823 8222263 + 8132714 8134130 + 8191969 8193409 + 6480464;6771380 8557821 18184654;12477932;11733047;11290418;11042152;10811801;15146197;22939629;21621375;21447824;21890473;22318606;22505724 29098 Q9HD47 AA659738;ABBA01054908;AC135178;AF151070;AF161514;AF168714;AF265205;AF265206;AK290399;AMYH01008090;BC006486;BC012552;BC100017;CH471108;CN396019;CR457206;CR749387;NG_028189;NM_001177801;NM_001177802;NM_016492 AAF29129;AAF36156;AAF87316;AAG01291;AAG01292;AAH06486;AAH12552;AAI00018;BAF83088;CAG33487;CAH18237;EAW90064;EAW90065;EAW90066;NP_001171272;NP_001171273;NP_057576;Q9HD47 Hs.408233 1652138;1652140;1855233 A006E21;G20744;RH46164 DKFZp686F02139;HSPC165;HSPC236;MGC110973;MOG1;RANGNRF MOG1 homolog;ran guanine nucleotide release factor;ran-binding protein MOG1 APPROVED protein-coding ENSG00000108961 17679 06407 607954 REVIEWED 1313698 RANBP3 RAN binding protein 3 This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5855112 5917277 - 5867150 5929113 - 5916150 5978320 - 6480464;6484113 9637251;11932251;17353931;19289081;18280241;17081983;16341674;15489334;15057824;14702039;14612415;12477932;11571268;11425870;8889548;8125298;12176322;11256614;21364925;22939629;18029348;22318606;19471022;21139048;21890473;19322201;22863883;15174051;23303829 8498 B7Z7F3;F5H4C2;K7EID7;K7EIJ4;K7EJ17;K7EJV3;K7EMH9;K7EMT3;K7EN31;K7ENB9;K7ENJ2;K7EPW1;K7EQB8;K7ERD4;K7ESQ0;Q53GE1;Q9H6Z4 ABBA01055983;AC004602;AC005784;AC093050;AK025300;AK125183;AK222813;AK222990;AK299260;AK299856;AK301942;AK308205;AK314343;AL050149;AMYH01009367;AMYH01009368;AMYH01009369;BC004349;BM786367;CB306615;CH471139;DQ234346;NM_003624;NM_007320;NM_007322;Y08697;Y08698;Y08699 AAC14485;AAH04349;ABB29975;BAB15106;BAD96710;BAG36985;BAH12980;BAH13150;BAH13589;CAA69956;CAA69957;CAA69958;CAB43293;EAW69120;EAW69121;EAW69122;EAW69123;EAW69124;NP_003615;NP_015559;NP_015561;Q9H6Z4 Hs.531752 1703210;1705800;1739435;2191123 D19S821E;MARC_14882-14883:1010078880:1;SGC31821;SHGC-78983 DKFZp586I1520 RAN-binding protein-3;ran-binding protein 3 APPROVED protein-coding ENSG00000031823 9850 04508 603327 REVIEWED 1313031 RANBP6 RAN binding protein 6 9 9 9 p24.1 5948531 5953152 - 6001019 6005618 - 6011019 6015640 - 1580863;6480464 16344560;15489334;15164053;14702039;12477932;22863883;19471022;21139048;21890473;22190034;22505724 26953 B4DTX6;O60518 ABBA01065404;AF039023;AI568841;AK001982;AK300408;AL162384;AMYH01019204;BC012805;BC019838;BC037423;BC098406;BX537405;CH471071;DA116213;DA155272;DA234653;DC334669;DC342914;NM_001243202;NM_001243203;NM_012416 AAC14260;AAH12805;AAH98406;BAG62138;CAD97647;EAW58753;NP_001230131;NP_001230132;NP_036548;O60518 Hs.167496;Hs.732683 2134167;2164181;2164331;5114198 D9S1049E;SHGC-36689;T03720;WIAF-1640 FLJ54311 OTTHUMP00000021039;Ran-GTP binding protein;ran-binding protein 6 protein-coding ENSG00000137040 9851 17953 VALIDATED 1344686 RANBP9 RAN binding protein 9 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008] 6 6 p23 13729709 13819775 - 13621730 13711796 - 6480464 9817760;12220523;12421467;14500717;18801335;18710924;18455188;18040864;17467196;16595702;16478441;16364241;15964779;15558019;15489334;15381419;14722085;14574404;14511641;12812986;12684061;12559565;12477932;12361945;12226704;12147692;12084015;12082530;11470507;10471364;17353931;16000162;15606899;12470648;12800254;20395553;20403074;20936779;18298663;12917623;14648869;15231748;15604093;17087506;17148452;19251705;19615732;19729516;19996306;20085707;22863883;22939629;22990118;23022380;16196087;21805090;21139048;21890473;21906983;22321011;18555800;19790105;20829363;21900206;21987572;22223749;17620599;22779921;20016921;22505724;22952844 10048 B2R8E1;Q96S59 AB008515;AB055311;ABBA01022128;ABBA01022129;AF064606;AF306510;AK313334;AL441883;AMYH01016095;BC019886;BC052781;BC053374;BC063849;CH471087;NM_005493;Z93020 AAC17111;AAH19886;AAH52781;AAH63849;AAK15469;BAA23216;BAB62525;BAG36138;EAW55341;EAW55342;EAW55343;EAW55344;EAW55345;NP_005484;Q96S59 Hs.708182 1697812;1752979;1849713;2129105;2135531;2182603;2184525;7186405 AL020967;D6S1430;D6S1861;L17993;RH102430;SGC35035;SHGC-106866 BPM-L;BPM90;RANBPM;RanBP7 OTTHUMP00000017269;Ran Binding Protein in the Microtubule organizing center;novel centrosomal protein RanBPM;ran binding protein, centrosomal;ran-binding protein 9;ran-binding protein M APPROVED protein-coding ENSG00000010017 13727 04835 603854 REVIEWED 1320507 RAP1GAP RAP1 GTPase activating protein This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011] 1 1 p36.1-p35 21795302 21868386 - 21922708 21995856 - 1580863;6480464 1904317;18029348;19433443;19147557;19074885;19066305;18940312;18551404;18483282;17954608;17646383;17300802;16436672;16424023;16341674;15725075;15657046;15479739;15342556;15254236;15141215;14660640;14607972;12891710;12590145;12477932;12464615;12198116;12171996;12082090;10593970;10476970;9455484;9346962;8939933;8275700;1406653;12842888;11278445;16169070;18309292;20124489;10854065;20439492;22614916;21460216;19549374;21532618;21633110;21832044;21785277;21900206;22266190;22696507 5909 F2Z357;G3V1A7;J3KPC5;P47736;Q5T3S6;Q5T3T0;Q5T3T1 AB003930;AB007943;ABBA01059822;ABBA01059823;AI827348;AL359815;AMYH01000340;AMYH01000341;BC035030;BC054490;BM739021;BP200029;BP283134;CH471134;CV574545;M64788;NG_029807;NM_001145657;NM_001145658;NM_002885 AAA60252;AAH35030;AAH54490;ACE86585;ACE87268;BAA32319;BAA83674;EAW94979;EAW94980;EAW94981;EAW94982;EAW94983;EAW94984;EAW94985;EAW94986;NP_001139129;NP_001139130;NP_002876;P47736 Hs.148178 1338747;1342399;1676410;1682740;1744675;1765905;1846580;1858444;2171996;2219604 AL009536;D1S2828;G15733;GDB:549205;RAP1GA1__5643;RH69163;RH75159;RH93937;SHGC-149316;SHGC-74322 KIAA0474;RAP1GA1;RAP1GAP1;RAP1GAPII;RAPGAP OTTHUMP00000008709;OTTHUMP00000008710;OTTHUMP00000008711;OTTHUMP00000008712;rap1 GTPase-activating protein 1 APPROVED protein-coding ENSG00000076864 9858 02609 600278 REVIEWED 1352228 RAP1A RAP1A, member of RAS oncogene family The product of this gene belongs to the family of RAS-related proteins. These proteins share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between RAP proteins and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. The product of this gene counteracts the mitogenic function of RAS because it can interact with RAS GAPs and RAF in a competitive manner. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 p13.3 111963928 112057624 + 112162405 112256101 + 6480464;6484113;6907045 15711749;15374886;11429608;21520057;10777492;11022048;16284401;19464664;19176753;19098287;19001122;18948674;18832707;18809728;18805968;18789886;18625726;18487435;18390735;18172027;17954608;17716979;17702895;17517894;17487743;17382517;17300802;17068197;16963453;16888288;16820412;16751380;16716258;16710414;16540189;16219685;16118622;15725075;15677455;15661741;15657046;15613546;15601837;15591041;15569673;15489334;15479739;15302884;15254236;15064832;15031297;15031288;14757755;14607972;14576067;14551137;13679863;12891710;12845325;12590145;12477932;12464615;12444546;12393539;12393469;12221082;12091396;12082090;11880369;11788600;11786539;11335720;10926822;10922060;10224125;10085114;9882515;9867809;9285558;8756332;8449039;7791872;3144274;3143720;3141412;3045729;2108841;1899909;1312373;11524421;10934204;10777494;11466412;9523700;12842888;12147258;15854902;11948427;10454553;7862125;11980706;12581858;12874025;15469846;15856025;2642744;2507536;22577140;21468893;20547757;8631894;10608844;10608883;14702343;15207703;16005629;16581250;17215244;17540176;19638416;19710505;19763083;20048162;20339002;20548944;2158984;2164710;9069267;9115221;9560161;20665668;20709748;21169361;22723956;22738401;22859270;22939629;23209645;21454546;21605078;23209302;21750123;21716322;22347375;21139048;21906983;15894621;18235501;19805454;21890473;21963094;21987572;21988832;22053931;22684501;22936677;19322201;22343288;11359771;17916086;23097489;23166790;23106098;23243278;22899717;23219753;22810897 5906 A8KAH9;P62834 A08691;AB051846;AB451235;AB451360;ABBA01068399;AF493912;AK293044;AL049557;AL139012;AMYH01000947;BC014086;BI460853;BT019666;BU150941;CH471122;M22995;NM_001010935;NM_002884;X12533 AAA36150;AAH14086;AAM12626;AAV38472;ACE86473;ACE87154;BAB61868;BAF85733;BAG70049;BAG70174;CAA00804;CAA31051;EAW56503;NP_001010935;NP_002875;P62834 Hs.190334 1659994;1740801;1852263 AL010000;D1S3458;SHGC-141 KREV-1;KREV1;RAP1;SMGP21 C21KG;G-22K;GTP-binding protein smg p21A;OTTHUMP00000013740;OTTHUMP00000013741;OTTHUMP00000013742;RAS-related protein RAP1A;Ras-related protein Krev-1;ras-related protein Rap-1A APPROVED protein-coding ENSG00000116473 9855 01545 179520 REVIEWED 1321254 RANGAP1 Ran GTPase activating protein 1 This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q13 39971561 40012162 - 41641615 41682216 - 1580863;6480464 7878053;17000644;17353931;8978815;18706886;17081983;16620772;16565220;16428860;15931224;15489334;15461802;15355965;15302935;12477932;12192048;11854305;11853669;11347906;10591208;10394366;9920803;9556629;9442102;9019411;8973340;8146159;7744835;12924945;18691969;9219684;9214382;12419228;15546615;15576338;17148452;17363900;17643375;19615732;19748360;11709548;20797634;22878415;21216249;19454010;17803295;21518904;22939629;20805321;14578449;16449645;19246003;20360068;21252943;17060450;17620599;22464730;22586326;21139048;21139563;21693764;21890473;21906983;22178446;19471022;22194619;16194093;16820290;18093978;20501649;9497385;9658103;10668806;17036045;22863883;10527945;11231159;15037602;15062103;16469311;17099698;18305100;19285941;21646468;21963094;21988832;22331847;22412018;22678362;22751105;22925898;23000965;23667531;7882974;8896452;9456312;15161980;22053931;22174317;22268729;22751501;22578841 5905 B0QYT4;B0QYT5;B0QYT6;F8W7I9;H0Y4Q3;P46060 AB058738;ABBA01055626;ABBA01055627;AK302222;AK303524;AL035681;AMYH01012800;AMYH01012801;BC004990;BC014044;BC019676;BC041396;BC048990;BM551472;CH471095;CR456557;CX872993;DA269460;HY062550;HY251691;NM_001278651;NM_002883;X82260 AAH04990;AAH14044;AAH19676;AAH41396;BAB47464;BAG63578;BAG64552;CAA57714;CAG30443;CAK54588;CAK54887;EAW60420;EAW60421;EAW60422;EAW60423;EAW60424;NP_001265580;NP_002874;P46060 Hs.183800 1655842;1667367;1742997;1747583;1789352;2114038;2167625 A006B13;AB072759;G65454;G67898;GDB:229316;RH47123;RH47253 Fug1;KIAA1835;MGC20266;RANGAP;SD OTTHUMP00000198755;OTTHUMP00000198756;OTTHUMP00000198757;OTTHUMP00000198758;ran GTPase-activating protein 1;segregation distorter homolog;segregation distortion APPROVED protein-coding ENSG00000100401 9854 03839 602362 REVIEWED 1346377 RAP1GAP2 RAP1 GTPase activating protein 2 This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 17 p13.3 2716378 2957133 + 2646482 2887785 + 2699732 2941035 + 6480464 18039662;15632203;15383317;12477932;10470851;21658281;20936779;19528539;20379614;21906983 23108 Q684P5 AB028962;ABBA01054725;ABBA01054726;ABBA01054727;ABBA01054728;ABBA01054729;ABBA01054730;ABBA01054731;ABBA01054732;AC002316;AC005696;AC015921;AC097370;AJ628446;AJ628447;AK000478;AK124640;AK127021;AMYH01008019;AMYH01008020;AMYH01008021;AMYH01008022;AMYH01008023;BC037493;BC140870;BC140871;BE208439;BU629928;CH471108;CR627427;DN831680;NG_013030;NM_001100398;NM_015085 AAI40871;AAI40872;BAA82991;BAC85912;CAF31652;CAF31653;CAH10514;EAW90526;EAW90527;EAW90528;EAW90529;NP_001093868;NP_055900;Q684P5 Hs.499659 1715579;1728235;1729454;1737543;1755273;2011914;2108773;7184611 D17S128;D17S1581;G63541;GARNL4_9307;REN76885;RH120931;SHGC-142168 DKFZp686O238;GARNL4;KIAA1039;RAP1GA3 GTPase activating RANGAP domain-like 4;GTPase activating Rap/RanGAP domain-like 4;GTPase-activating Rap/Ran-GAP domain-like protein 4;rap1 GTPase-activating protein 2 APPROVED protein-coding ENSG00000132359 29176 17028 REVIEWED 736930 RAP1B RAP1B, member of RAS oncogene family This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011] 12 12 q14 67290919 67340641 + 69004619 69054385 + 6480464;6484113;6907045 16357324;16118622;15863506;15489336;15489334;15078882;14702039;13679863;12665801;12477932;12407113;12089143;11994301;11258948;11230166;11076863;9488663;8939933;8524240;7803284;3141412;3137530;2123345;2105724;1696481;15141215;16381901;18948674;18842593;18805968;18660803;18625726;18582561;11256614;16005629;16581250;17318188;18309292;19651783;19864456;8332187;20139978;21832049;22939629;2108841;14741744;18781797;21139048;21890473;21900206;21906983;21987572;22577140;21853274;22053931;22642900;22958893 5908 B7ZAY2;B7ZB78;E7ESV4;F5GWU8;F5GX62;F5GYB5;F5GYH7;F5GZG1;F5H004;F5H077;F5H0B7;F5H0S2;F5H491;F5H4H0;F5H500;F5H6R7;F5H7Y6;F5H823;F8WBC0;Q6DCA1 A08693;AA809981;AB062128;ABBA01026553;AC015550;AF279894;AF493913;AJ420497;AK127392;AK298818;AK301401;AK301428;AK311559;AK312371;AK316447;AK316543;AL080212;AMYH01004561;AMYH01004562;BC000176;BC078173;BC095467;BG717530;BT020093;CH471054;CR407689;CX868584;DB448914;EF581377;NM_001010942;NM_001251917;NM_001251918;NM_001251921;NM_001251922;NM_015646;X08004 AAH00176;AAH78173;AAH95467;AAK07551;AAM12627;AAV38896;ABQ52130;BAB93460;BAG35289;BAG60950;BAG62936;BAG62956;BAH14818;BAH14914;CAA00805;CAB45777;CAB46488;CAG28617;CAL38121;EAW97189;EAW97190;EAW97191;EAW97192;EAW97193;NP_001010942;NP_001238846;NP_001238847;NP_001238850;NP_001238851;NP_056461;P61224 Hs.369920 1644126;1653476;1736292;1765327;1850268;2159030;2189355;5016464 1670;D12S1240E;D12S1975;GDB:384854;MARC_2660-2661:991933047:1;SHGC-12704;SHGC-148818;SHGC-32780 DKFZp586H0723;FLJ18601;K-REV;RAL1B GTP-binding protein smg p21B;OTTHUMP00000165026;OTTHUMP00000165027;OTTHUMP00000165028;OTTHUMP00000240358;OTTHUMP00000240363;OTTHUMP00000240364;OTTHUMP00000240365;OTTHUMP00000240366;OTTHUMP00000240370;OTTHUMP00000240372;OTTHUMP00000240373;OTTHUMP00000240374;OTTHUMP00000240492;OTTHUMP00000240497;OTTHUMP00000240499;RAS-related protein RAP1B;Ras family small GTP binding protein RAP1B;ras-related protein Rap-1b;small GTP binding protein APPROVED protein-coding ENSG00000127314 9857 01546 179530 REVIEWED 1318400 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010] 4 4 q23-q25 99401550 99584035 + 99182527 99365012 + 1580863;6480464 1549351;17951244;16189514;14702039;14615375;12690117;12477932;11948427;8900189;8262526;21242305;20029029;20936779;19260141;19546222;20190816;20209136;20709748;22863883;21139048;21890473;21906983;21429211;22505724 5910 B3KNU0;D6RB97;D6RBC6;D6RC12;D6RC85;D6RE95;D6REZ0;D6RF90;D6RHH8;D6RHZ7;H0Y8M2;H0Y9J0;Q6U7G8;Q9NYM2 ABBA01063654;ABBA01063655;AC019077;AC058823;AC078961;AF215923;AF237413;AI800264;AK055032;AK295156;AK297543;AK311243;AMYH01014415;AY376900;BC001816;BC001851;BC098269;BC098334;BC099708;BC099845;BT006837;CH471057;DC367998;NM_001100426;NM_001100427;NM_001100428;NM_001100429;NM_001100430;NM_021159;X63465 AAF32290;AAF43211;AAH01816;AAH01851;AAH98269;AAH98334;AAH99708;AAH99845;AAP35483;AAQ85126;ABM81687;BAG51452;BAH11994;BAH12611;CAA45067;EAX06068;EAX06069;EAX06070;EAX06071;EAX06072;NP_001093896;NP_001093897;NP_001093898;NP_001093899;NP_001093900;NP_066982;P52306 Hs.132858 1675652;1684846;1695072;1720581;1730411;1750651;1768856;1775603;1796658;2110865;2126005;2129848;2162441;2180094;2191083;7184760 D4S1003;D4S2532E;D4S2845;D4S434E;G33443;G48170;G59245;MARC_14445-14446:1010425086:1;RAP1GDS1_1670;RH94307;RH99176;SHGC-111967;SHGC-67831;SHGC-67970;STS-N92500 GDS1;MGC118859;MGC118861;SmgGDS OTTHUMP00000219490;OTTHUMP00000219491;OTTHUMP00000219492;OTTHUMP00000219493;OTTHUMP00000219494;OTTHUMP00000219495;SMG GDS protein;SMG P21 stimulatory GDP/GTP exchange protein;exchange factor smgGDS;rap1 GTPase-GDP dissociation stimulator 1 APPROVED protein-coding ENSG00000138698 9859 11763 179502 VALIDATED 1353605 RAP2C RAP2C, member of RAS oncogene family The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] X X X q25 131723459 131738593 - 131164734 131179870 - 131337052 131353508 - 737633;1580863;6480464 12477932 17447155;16213650;15772651;15489334;21987572;21139048;21890473;15146197;16344560;16540189;17690704;19322201;19784953;21668950 57826 Q9Y3L5 ABBA01042206;ABBA01042207;ABBA01042208;ABBA01042209;ABBA01042210;ABBA01042211;ABBA01042212;AK124801;AK310997;AL049685;AL049792;AL832461;AMYH01022985;AY298955;BC003403;BC035382;BC051467;BI767215;BX399437;BX647223;CH471107;CN308919;DB252216;DB535605;NM_001271186;NM_001271187;NM_021183;NR_073150;Z78022 AAH03403;AAP55684;ACE86779;ACE86825;ACE87465;ACE87511;BAG54098;CAB41256;EAX11782;EAX11783;NP_001258115;NP_001258116;NP_067006;Q9Y3L5 Hs.119889;Hs.743556 1681578;2114671 DXS7405;RH94237 DKFZp313B211 OTTHUMP00000024036;OTTHUMP00000024037;ras-related protein Rap-2c;small GTPase RAP2C APPROVED protein-coding ENSG00000123728 21165 06706 REVIEWED 6767316 RAPGEF4-AS1 RAPGEF4 antisense RNA 1 2 q31.1 173587917 173600934 - 11230166;17974005;8889548 91149 ABBA01020743;AC018712;AL157450;AMYH01011270;NR_026995 ACE87342;ACE87437 Hs.711021 APPROVED miscrna ENSG00000228016 28081 VALIDATED 731405 RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 9 9 q34.3 133441978 133602746 - 134452157 134612925 - 6480464;6484113;6907045 15138850;15077165;14702039;14551197;12734187;12697763;12477932;12384139;12054111;11870224;11466412;11309621;10608804;10514505;10318861;9546424;9498705;9497377;9482107;9374471;9344843;9178909;9067577;8662907;8621483;8524240;7959692;11167825;10753869;9820532;15856025;9748234;7512734;16284401;7806500;19324082;19297053;18832707;18809728;18660489;17825818;17456239;17081983;16681758;15320955;15144186;17474147;19001122;20190816;20379614;20416077;8978305;9069267;20936779;20581864;21223981;21399874;20436929;21146886;21876762;21628423;10907644;8943292;9129019;9311917;7531694;10548487;17724123;21988832;23275563;22659131;18835194;19380743 2889 H0Y4V2;H0Y6R4;Q13905;Q5JUE5;Q5JUE6;Q5JUE9;Q68DL3 ABBA01012104;AF467069;AJ420417;AK023727;AK023760;AK302763;AL160271;AL160276;AMYH01021782;AMYH01021783;BC041710;BG429001;BG546427;BQ054243;BQ772947;CH471090;CR749354;D21239;DQ925677;DQ925678;DQ925679;DQ925680;DQ925681;DQ925682;DQ925683;DQ925684;NM_005312;NM_198679 AAH41710;AAP97718;ABL59904;ABL59905;ABL59906;ABL59907;ABL59908;ABL59909;ABL59910;ABL59911;ACE87852;ACT64379;BAA04770;BAG63974;CAH18207;EAW87985;EAW87986;NP_005303;NP_941372;Q13905 Hs.127897 1644904;1652345;1663138;1709184;1711342;1722229;1764009;1765295;1768050;1768052;1768934;1777536;2118458;2160932;2186633;5014055 A002Q14;D12S288;D1S3697;D9S2054;G60020;RH11721;RH16486;RH48515;RH65780;RH70308;SHGC-147667;SHGC-148792;SHGC-34480;SHGC-84926;SHGC-85759;STS-D21239 C3G;DKFZp781P1719;GRF2 CRK SH3-binding GNRP;OTTHUMP00000022419;OTTHUMP00000022420;OTTHUMP00000022423;c3g protein;guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene);rap guanine nucleotide exchange factor 1 APPROVED protein-coding ENSG00000107263 4568 02627 600303 REVIEWED 1348992 RAP2A RAP2A, member of RAS oncogene family 13 13 q34 96884475 96918245 + 98086475 98120252 + 1580863;6480464 1900290;18930710;3045729;18789886;18701680;17918750;17716979;16963453;16540189;16344560;16246175;15761153;15752761;15489334;15342639;15057823;15031288;14966141;14702039;12581858;12477932;12444546;11857081;11524421;10926822;10862698;10777494;10591105;10224125;10085114;9523700;9312017;8424780;11786539;22797597;15451670;19645719;19061864;20159449;18624398;21139048;19322201;21890473;21987572;23000965;18497260 5911 F6U784;P10114 A08695;ABBA01027162;AF205602;AF493914;AK090533;AK094586;AK315139;AL442067;AMYH01005313;BC022356;BC041333;BC047495;BC070031;CB215818;CH471085;DA493957;DB480985;NM_021033;X12534 AAH41333;AAH70031;AAM12628;AAN71845;ACE86878;ACE87566;BAG37588;CAA00806;CAA31052;EAX08974;NP_066361;P10114 Hs.508480 1665075;1671344;1716989;1736376;1738427;2115011;2153872;2163544;2184681;5037744 D13S1357;D13S679E;D13S855E;D13S876E;D1S3694;RH124041;RH44768;RH77953;WI-16662;WI-19326 K-REV;KREV;RAP2;RbBP-30 OTTHUMP00000018581;RAP2, member of RAS oncogene family (K-rev);ras-related protein Rap-2a protein-coding 9861 01547 179540 VALIDATED 1315047 RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] 4 4 4 q32.1 157529482 157621655 + 160408448 160500752 + 160188998 160281302 + 1580863;6480464;6907045 10934204;10608883;17724123;16344560;22422452;12477932;12196628;12107413;11799111;10608844;10548487;9205841;9110174;8619474;10873669;7809086;15146197;20936779;11598133;14676191;21840392;22779921;21906983;10801446;11359771;12391161;16272156;20467438;21963094 9693 D6RAK0;D6RC78;D6REY8;H0Y8H7;H0Y8N8;H0Y8T6;H0Y905;H0YAJ8;Q9Y4G8 AB002311;ABBA01070221;ABBA01070222;ABBA01070223;AC074344;AC095064;AC105316;AF070570;AK294459;AL117397;AMYH01014648;BC110355;BC117321;BP386101;BU620827;CH471056;CQ772997;DA188103;NM_014247 AAI17322;AAY40909;BAA20772;BAG57693;CAB55899;CAF33926;EAX04847;EAX04848;NP_055062;Q9Y4G8 Hs.744884 1690153;1748865;2163990;2168526;2170219;2173425;2175718;2184413 A006Q46;RH45436;RH93702;SHGC-110526;SHGC-59760;STS-H47114;STS-T86195;WI-20985 CNrasGEF;NRAPGEP;PDZ-GEF1;PDZGEF1;RA-GEF;Rap-GEP;nRap GEP OTTHUMP00000220255;PDZ domain containing guanine nucleotide exchange factor (GEF) 1;PDZ domain-containing guanine nucleotide exchange factor 1;RA(Ras/Rap1A-associating)-GEF;neural RAP guanine nucleotide exchange protein;rap guanine nucleotide exchange factor 2 APPROVED protein-coding ENSG00000109756 16854 609530 VALIDATED 736861 RAP2B RAP2B, member of RAS oncogene family This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008] 3 3 q25.2 154362719 154368955 + 152880029 152886265 + 6480464 2118648;18582561;17316888;15613030;15489334;12477932;12444546;11877431;11786539;10085114;8424780;8391995;8356055;3045729;2115998;10934204;16189514;20471030;19913121;20628086;10608883;17342744;10737800;16712791;19738201;21890473;21963094;22623428;23000965;21139048;21906983;21987572 5912 P61225;Q5JQ44 ABBA01058879;AC117394;AF493915;AI718675;AL713766;AMYH01013588;AW997098;BC012362;BF965860;BI551390;BQ378964;BU507815;BU860799;BX116683;BX355341;CB116910;CH471052;HY071303;NM_002886;X52987 AAH12362;AAM12629;ABM82628;CAA37178;CAI46163;EAW78771;NP_002877;P61225 Hs.700713;Hs.98643 1674877;1677142;1788464;2131787;5021668 RH79703;SHGC-77466;SHGC-77468;VMCNG1X15;fl05f09.x1 MGC20484 OTTHUMP00000216113;Ras family small GTP binding protein RAP2B;ras-related protein Rap-2b;small GTP binding protein APPROVED protein-coding ENSG00000181467 9862 01548 179541 REVIEWED 1318125 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 2 2 2 q33 198053361 198154883 - 204006783 204108303 - 204298538 204400058 - 6480464 19000833;18076380;15815621;15642358;15609301;15586368;15469845;15302935;14702039;14506234;11586298;11214970;18029348;21115820;19322201;22194892;21890473;19531213;22915108 65059 C9J0R8;C9J164;C9JLG4;C9K0J5;Q70E73;Q8N8R9 AB051468;AB053311;AB053320;ABBA01062612;ABBA01062613;AC018891;AF086189;AI217860;AJ584699;AK022729;AK095976;AK096270;AMYH01011416;AMYH01011417;AY494951;AY523977;AY523978;BE967038;BU620816;CH471063;NM_203365;NM_213589 AAI56183;AAI56923;AAS16935;AAS16936;AAS82582;AAY14676;BAB21772;BAB69020;BAC04744;CAE48361;EAW70344;EAW70345;EAW70346;NP_976241;NP_998754;Q70E73 Hs.471162 1644111;1688751;1699406;1728861;1748509;1767230;2122830;2174731;2176909 G54500;RH103294;RH16509;RH45563;RH65997;RH68933;SHGC-30548;SHGC-32154;SHGC-34634 ALS2CR18;ALS2CR9;KIAA1681;LPD;PREL-2;PREL2;RMO1;RalGDS/AF-6 OTTHUMP00000163779;OTTHUMP00000163780;OTTHUMP00000206258;OTTHUMP00000208081;OTTHUMP00000208082;OTTHUMP00000208083;OTTHUMP00000208084;OTTHUMP00000208085;OTTHUMP00000208086;OTTHUMP00000208087;OTTHUMP00000208088;PREL-2;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein;lamellipodin;proline rich EVH1 ligand 2;proline-rich EVH1 ligand 2;ras-associated and pleckstrin homology domains-containing protein 1 protein-coding ENSG00000173166 14436 12356 609035 VALIDATED 1351216 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 12 12 q13.1 46417293 46438952 - 48128453 48152889 - 632397;1580863;6480464;6907045 9856955 12477932;19464664;19307216;19273589;19022848;18728186;18648773;18580452;18495799;18434542;18421013;18323524;18202100;18172027;18064650;18032709;17993585;17895245;17884339;17599964;17565009;17284589;17203972;17068197;16940330;16914720;16880999;16754664;16751380;16728394;16344560;16115630;15601837;15591041;15545605;15489334;15374886;15319437;15302884;15274052;15202935;15146197;14702039;14615375;12783872;12707263;19475578;12574122;9853756;10777494;22173835;22511766;19403523;19546222;19564576;19582788;12469113;12384139;12000763;11801596;9110174;8619474;15856025;20032304;21166931;19657062;19710505;19725049;19920825;20038525;20054824;15166221;20729327;20732872;20855527;21047789;9789079;20547757;20663796;20952690;21109603;21454546;21393242;21670213;21679469;21840392;21750123;21539721;22082266;23364803;22575451;22110680;22167199;22343288;22363678;22759971;23523631;16177794;22474076;22479536 10411 F8VRX1;F8VVJ6;F8VXK1;F8W0N0;H0YHS2;H0YIP6;O95398;Q99777 ABBA01031467;AC004241;AF103905;AK055502;AK074444;AK092448;AK125545;AK290230;AK299029;AK308079;AMYH01004427;BC017728;BC040534;BC068477;BC092404;BQ007070;CH471111;CN294139;CS416349;DA340363;DA529158;DA629958;DB179165;DB278856;NM_001098531;NM_001098532;NM_006105;U78168;U78169;U79275 AAB50216;AAC83381;AAD02890;AAD12740;AAH17728;AAH92404;ABM82487;ABM85674;BAF82919;BAG51527;BAG54212;BAH12932;CAL48169;EAW57944;EAW57945;EAW57946;EAW57947;EAW57948;EAW57949;NP_001092001;NP_001092002;NP_006096;O95398 Hs.8578 1681151;1736256;2184208 D12S1212E;RH91422;WI-22224 CAMP-GEFI;EPAC;EPAC1;HSU79275;MGC21410;bcm910 9330170P05Rik;EPAC 1;OTTHUMP00000165032;OTTHUMP00000165037;OTTHUMP00000241834;OTTHUMP00000241906;Rap1 guanine-nucleotide-exchange factor directly activated by cAMP;cAMP-regulated guanine nucleotide exchange factor I;exchange factor directly activated by cAMP 1;exchange protein directly activated by cAMP 1;rap guanine nucleotide exchange factor 3 protein-coding ENSG00000079337 16629 06928 606057 VALIDATED 1351048 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 2 2 q31-q32 173308771 173625867 + 173600525 173917621 + 632397;1580863;6480464 9856955 22363678;11438518;10777494;19401682;19086053;18854429;18495799;17284589;16713569;15489334;15202935;14660679;14593429;12477932;12469113;12384139;11707077;11598134;11056535;8889548;15856025;20663796;19553663;19598235;20200953;20233795;20379614;9789079;19739231;21454623;23364803 11069 B7Z278;B7Z283;B7Z3T6;E7EVE5;E9PB94;H7BYQ0;Q8WZA2 AB027471;AB075513;AB209681;ABBA01020743;ABBA01020744;ABBA01020745;AC009484;AC018712;AC019046;AC104086;AK294433;AK294445;AK294914;AK294997;AK295002;AK296340;AK302732;AK304278;AK310373;AK311165;AK311500;AK311575;AK311697;AK313084;AK316014;AK316072;AMYH01011270;AMYH01011271;BC024004;BC040183;BI546558;BQ184791;CH471058;DB471672;NM_001100397;NM_007023;U78516 AAD03422;AAH24004;AAH40183;AAY15071;AAY24186;ABM84937;ABM92166;BAB72179;BAD92918;BAE45759;BAG35910;BAH11764;BAH11769;BAH11923;BAH11944;BAH11946;BAH12322;BAH13791;BAH14148;BAH14385;BAH14443;EAX11167;EAX11168;EAX11169;NP_001093867;NP_008954;Q8WZA2 Hs.470646 1709692;1710788;1711986;1764461;2118082;2124978 RH118446;SHGC-13676;SHGC-148065;SHGC-84070;SHGC-86333;WI-15265 CAMP-GEFII;CGEF2;EPAC2;Nbla00496 EPAC 2;OTTHUMP00000165043;OTTHUMP00000165045;OTTHUMP00000205058;RAP guanine-nucleotide-exchange factor (GEF) 4;cAMP-regulated guanine nucleotide exchange factor II;exchange factor directly activated by cAMP 2;exchange protein directly activated by cAMP 2;putative protein product of Nbla00496;rap guanine nucleotide exchange factor 4 protein-coding ENSG00000091428 16626 06929 606058 VALIDATED 1347798 RAPGEFL1 Rap guanine nucleotide exchange factor (GEF)-like 1 17 17 17 q21.1 34994758 35012421 + 35591394 35605426 + 38334242 38351906 + 1580863;6480464 9582122;9789079;12477932;21832049;20706999 51195 F5GXC6;F5GY17;F5GYJ3;F5H2D5;F5H582;Q9UHV5 ABBA01031840;AC068669;AF117946;AK294642;AK304160;AK313492;AMYH01008382;BC029956;BC115374;BC115375;CH471152;NM_016339 AAF22003;AAI15375;AAI15376;BAG36274;BAG57820;BAH14121;EAW60645;EAW60646;EAW60647;NP_057423;Q9UHV5 Hs.744194 1684600 RH80710 Link-GEFII;MGC134798;MGC134799 Link guanine nucleotide exchange factor II;OTTHUMP00000237586;OTTHUMP00000237588;OTTHUMP00000237589;RAP guanine-nucleotide-exchange factor (GEF)-like 1;link GEFII;rap guanine nucleotide exchange factor-like 1 protein-coding ENSG00000108352 17428 17954 VALIDATED 1343059 RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] 7 7 7 p15.3 22143557 22382091 - 22124433 22363058 - 22157908 22396533 - 1580863;6480464 10934204;10486569;17903292;15489334;15342556;12690205;12477932;10777494;9039502;15856025;21546767;20379614;17725712 9771 A8MQ07;C9JBS6;C9JHM4;E9PGY3;F8WD32;Q5JPD2;Q92565 AA732485;AA815190;AA890636;AACC02000007;ABBA01056688;ABBA01056689;AC005079;AK295859;AL833195;AL833229;AMYH01017105;AW511225;BC039203;BF512545;BP349215;CH236948;CH471073;D87467;DN996625;NM_012294;W56891 AAH39203;BAA13406;BAG58663;CAI46177;EAL24270;EAW93746;NP_036426;Q92565 Hs.174768;Hs.713217 1336720;1650820;1723151;1778218;1786206;1786332;2119371;2134562;2139113;2149369;2152548;2155707;2180696;2180698;7186964 D7S1429;D7S1976;D7S2510;G17170;GDB:1317236;GDB:1318178;RH123760;RH46082;RH70247;SGC30845;SGC38371;SHGC-106887;SHGC-155317;SHGC-55982 GFR;KIAA0277;MR-GEF;REPAC M-Ras-regulated GEF;M-Ras-regulated Rap GEF;OTTHUMP00000201874;guanine nucleotide exchange factor for Rap1;rap guanine nucleotide exchange factor 5;related to Epac APPROVED protein-coding ENSG00000136237 16862 15208 609527 VALIDATED 1316955 RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 5 5 5 q31.1 126889939 127101211 - 130789500 130998828 - 130759614 130970929 - 6480464 17081983;11524421;19176753;18804346;18718982;18585005;17030554;16344560;15302935;14702039;12581858;12477932;12095257;15324660;16192288;20800573;16055720;18029348;21139048 51735 B2RTU6;B7Z7Y1;D6RB02;D6RD23;D6RE77;D6RIH0;Q8TEU7 ABBA01068822;ABBA01068823;ABBA01068824;ABBA01068825;AC004227;AC004622;AC008497;AC008695;AC026754;AF085846;AF394782;AF478468;AF478469;AF478567;AK056296;AK074318;AK302640;AL832899;AMYH01015610;AMYH01015611;AMYH01015612;AV726501;AW204176;BC133703;BC140820;BC142964;BC144627;BU568060;BX117281;BX649095;CH471062;DA817493;NM_001164386;NM_001164387;NM_001164388;NM_001164389;NM_001164390;NM_016340 AAC04379;AAI33704;AAI40821;AAI42965;AAI44628;AAK83368;AAL79915;AAL79916;AAM21637;BAB85049;BAH13767;EAW62366;EAW62368;NP_001157858;NP_001157859;NP_001157860;NP_001157861;NP_001157862;NP_057424;Q8TEU7 Hs.483329 1335442;1340553;1663022;1664194;1668031;1696628;1705716;1705718;1739063;2187168;5022200;5022578;5037552 A005Y25;D1S1423;D5S1781;D5S2057;D5S2110;D8S2279;L18426;RH16425;RH68639;SHGC-82940;SHGC-83444;SHGC-83445;STS-R70741 DKFZp667N084;DKFZp686I15116;KIA001LB;PDZ-GEF2;PDZGEF2;RA-GEF-2;RAGEF2 OTTHUMP00000222521;OTTHUMP00000222522;OTTHUMP00000222523;OTTHUMP00000222524;OTTHUMP00000222525;OTTHUMP00000222526;OTTHUMP00000222527;OTTHUMP00000222532;PDZ domain containing guanine nucleotide exchange factor (GEF) 2;PDZ domain-containing guanine nucleotide exchange factor 2;PDZ domain-containing guanine nucleotide exchange factor I;rap guanine nucleotide exchange factor 6 protein-coding ENSG00000158987 20655 11483 610499 VALIDATED 7245829 RARRES2P1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 1 643255 ABBA01030989;AC108724;AMYH01013292;NG_029071 pseudo 48700 INFERRED 7245733 RARRES2P2 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 2 644425 AL731696;AMYH01003243;NG_005568 pseudo 48701 INFERRED 7245657 RARRES2P4 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 4 644881 ABBA01015935;AF146191;NG_030220 pseudo 48703 INFERRED 7245683 RARRES2P8 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 8 642652 ABBA01002114;AC092325;AMYH01007635;NG_030246 pseudo 48707 INFERRED 1314835 RAPSN receptor-associated protein of the synapse This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011] 11 11 p11.2 47415891 47427306 - 47459308 47470730 - 1580863;6480464;7240710 8812503;19620612;18179903;16931511;16280586;15489334;15482960;15328566;15282317;15252722;15036330;14504330;12929188;12807980;12796535;12730725;12651869;12477932;12388596;11791205;11342559;11323662;10859577;10477765;9856458;9804166;9520483;9136771;7619516;18420419;20978122;19549727;21305573;20930056;22326364;18029348;21372719;20301347;22939624 5913 E9PJP9;E9PK11;Q13702 ABBA01060711;AC090559;AF449218;AK310002;AMYH01003542;BC004196;CH471064;NG_008312;NM_005055;NM_032645;Z33905 AAH04196;AAL86639;CAA83954;EAW67914;EAW67915;NP_005046;NP_116034;Q13702 Hs.81218 1689169 RH74913 CMS1D;CMS1E;MGC3597;RAPSYN;RNF205 43 kDa receptor-associated protein of the synapse;43 kda postsynaptic protein;OTTHUMP00000234335;OTTHUMP00000234336;OTTHUMP00000234338;RING finger protein 205;acetylcholine receptor-associated 43 kda protein;rapsyn APPROVED protein-coding ENSG00000165917 9863 03353 208150;601592;608931 REVIEWED 737497 RARB retinoic acid receptor, beta This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. The gene expresses at least two transcript variants; one additional transcript has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 3 3 p24.2 25444758 25614424 + 25469754 25639423 + 1580863;6480464;6484731;6484676;6484674;6907045 17320364;19471584;17132850 2833708;19258476;19127267;19081515;18996102;18957410;18852534;18825962;18783461;18673301;18663751;18547710;18538349;18519826;18483325;18349282;18271925;18254975;18212063;18166136;18058812;18036402;17900311;17804711;17686773;17615267;17556535;17549354;17252005;17244680;17195188;17065567;17001699;16858683;16613851;16478744;16389900;16288117;16287870;16255778;16244585;16134180;16128742;15635645;15604252;15502323;15489334;15467435;15383624;15375805;15361842;15255287;15231748;15217932;15217922;15014026;14726690;14726683;14691372;14614007;14601057;12839965;12839938;12805409;12789467;12665583;12579317;12576329;12554770;12529350;12477932;12399530;12191570;12124324;12118004;12009305;11980632;11945179;11925591;11839665;11834837;11769677;10411930;10198169;9005841;8950166;8754792;8612722;8383553;8275470;7628539;3014347;2844650;2836738;2825037;2177841;2170809;2153268;1663808;1379266;1332705;1331778;1321662;9817600;7705655;15688037;17363140;21795979;20496080;19913121;20374520;20602615;20628086;20634891;20211142;20606036;19945765;20704749;15604093;18845237;19221469;19258542;19345331;19469866;19553259;19618401;19657672;19809523;19828754;19829046;19880879;19902255;19940364;19961602;20346360;20379614;20508731;7565739;20571967;20505321;22487818;15528208;19443732;21287504;20864173;20711807;21254357;23156677;22901127;20302734;23102699;21638515;21822036;21162886;21680534;21916701;8707417;23474497;22659417;22837378;21946350;20535589;20865461;22286019;22318606;19350571;22116316;22693611;23284291;21988832;22964004;22694820;23299856;21923909;22451234;22967446 5915 D6RBI3;F1D8S6;P10826;Q5QHG3 AB307688;ABBA01025020;AC093416;AC098477;AC133141;AF157483;AK292032;AK299756;AMYH01013035;AY501390;BC030234;BC050415;BC060794;BC069735;CH471055;CR536558;CS542441;DQ083391;HQ692863;HQ692864;M57445;M62303;M96023;NG_029013;NM_000965;NM_016152;S82362;X04014;X07282;X56849;X77664;Y00291 AAA58728;AAA60264;AAD45688;AAH50415;AAH60794;AAH69735;AAS85757;AAZ32403;ADZ17374;ADZ17375;BAF84721;BAG61645;BAH02279;CAA27637;CAA30262;CAA54740;CAA68398;CAG38795;CAM91170;EAW64354;EAW64355;NP_000956;NP_057236;P10826 Hs.654490;Hs.733004 1334676;1340205;1678155;1716029;1716417;1720341;1791520;1792212;1792954;1796662;1854556;2110109;2133536;2137823;2137825;2152804;2190813 D3S1583;D3S2327;D3S3335;D3S4231;PMC113761P1;PMC139866P1;PMC17571P1;RARB;RARB-707F;RARB_245.2;RH120953;RH121389;RH123921;SGC31578;SHGC-3675;SHGC-76778;UniSTS:470565 HAP;MGC97363;NR1B2;RRB2 HBV-activated protein;OTTHUMP00000161046;OTTHUMP00000208324;OTTHUMP00000208325;OTTHUMP00000208326;RAR-beta;RAR-epsilon;hepatitis B virus activated protein;nuclear receptor subfamily 1 group B member 2;retinoic acid receptor beta;retinoic acid receptor beta 2;retinoic acid receptor beta 4;retinoic acid receptor beta 5;retinoic acid receptor beta variant 1;retinoic acid receptor beta variant 2;retinoic acid receptor, beta polypeptide APPROVED protein-coding ENSG00000077092 9865 07183 180220 REVIEWED 735465 RARG retinoic acid receptor, gamma This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 12 12 q13 51890620 51912303 - 53604350 53626040 - 1580863;6480464;6484731;6484676;6484674 17320364;19471584;17132850 10428834;2157970;18484682;18438858;17943189;19563758;18996102;18685608;17325034;17252005;16344560;15839736;15734736;15635645;15489334;15383624;14705796;14691372;12665583;12554770;12477932;12399530;12220491;12189556;11855864;9865725;9852056;9501913;9491782;9083083;8301142;7685085;7501014;2546152;2172793;2157210;1849262;1655630;1320193;1318502;1310259;10336495;10318855;11641790;14657503;19913121;20602615;20628086;20634891;14603262;15604093;16456540;17195188;18845237;19416972;19416983;19732752;19902255;20133701;20346360;20420906;20387030;17574023;19345331;21178008;21254357;22901127;17363140;20857416;21401418;21990348;19350571;22362749;21923909 5916 A8K3H3;B7Z4B4;F1D8P1;H3BMH6;H3BMK1;H3BMY6;Q9BYX8 AB307689;ABBA01008318;AC021072;AC073573;AJ250835;AK290588;AK297023;AK297110;AK297277;AK297801;AK301057;AK316259;AL701206;AMYH01004477;AW002722;AY013703;AY013704;BC019098;BC064524;BC072462;BC093727;BC093729;BC098421;CH471054;CO394652;CS542443;DA436501;DA552724;DC294855;HQ692828;HQ692829;L12060;M24857;M32074;M38258;M57707;NG_029822;NM_000966;NM_001042728;NM_001243730;NM_001243731;NM_001243732;X57280 AAA52692;AAA60253;AAA60254;AAA63254;AAG41594;AAG41595;AAH93727;AAH93729;ADZ17339;ADZ17340;BAF83277;BAH02280;BAH12478;BAH12500;BAH12537;BAH12670;BAH13399;BAH14630;CAA40548;CAB60726;CAM91171;EAW96676;EAW96677;EAW96678;NP_000957;NP_001036193;NP_001230659;NP_001230660;NP_001230661;P13631 Hs.1497;Hs.733399 1646840;1656869;1744013;1788186;2108891;2127585;2132131;5120860 AFM310yh9;GDB:376723;GDB:384836;GDB:677651;RARG_247;Rarg;STS-M38258;WI-18980 NR1B3;RARC OTTHUMP00000045736;OTTHUMP00000241950;OTTHUMP00000241951;OTTHUMP00000241952;RAR-gamma;nuclear receptor subfamily 1 group B member 3;retinoic acid nuclear receptor gamma variant 1;retinoic acid nuclear receptor gamma variant 2;retinoic acid receptor gamma APPROVED protein-coding ENSG00000172819 9866 01573 180190 REVIEWED 1319886 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 3 3 q25.32 159897591 159932969 - 158414897 158450275 - 1580863;6480464 9270552;18029348;8601727;16134180;16128742;15489334;15059893;14691453;12477932;11929948;21303978;16341674;19250291;19737656;19806788;19834535;21168224;21575264;22126303;22615834;22669512;22573467 5918 F8WBG0;P49788 ABBA01058812;ABBA01058813;AC080013;AK130079;AMYH01013609;AW514087;BC029640;BM919188;CH471052;NM_002888;NM_206963;U27185 AAA99722;AAH29640;ABM82259;ABM84293;ABM85442;ABM87683;EAW78675;EAW78676;NP_002879;NP_996846;P49788 Hs.131269 1697530;2186073 RH102271;SHGC-77489 LXNL;TIG1 OTTHUMP00000213561;OTTHUMP00000213562;OTTHUMP00000213563;RAR-responsive protein TIG1;latexin-like;retinoic acid receptor responder protein 1;tazarotene-induced gene 1 protein APPROVED protein-coding ENSG00000118849 9867 05477 605090 REVIEWED 733999 RARA retinoic acid receptor, alpha This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010] 17 17 q21 35718972 35767420 + 38465423 38513895 + 1600902;1580863;2314289;2314291;6480464;6484731;6484676;6484674;6907045;7240710 15659732;17956549;16420438;17320364;19471584;17132850 19377461;2825025;15831516;18416830;17538076;19563758;19341714;19224461;19173001;19144697;19106195;19100514;19029980;18996102;18660489;18636556;18305945;18212063;18180299;18000064;17993618;17991421;17960617;17943164;17761950;17656367;17628022;17611697;17595318;17560333;17475621;17468032;17456381;17451432;17272867;17272513;17252005;17244680;17005281;16797070;16769902;16728697;16713569;16630218;16606617;16540467;16504291;16480812;16449642;16432238;9445475;9267036;9115274;9005841;8616895;8562957;8302850;8244378;8051161;7566127;2899875;2825036;2218500;2175878;2170850;1652369;1347744;1311253;1310351;12612084;11158331;10823961;9256429;14581481;8887632;12052862;1314167;10610177;10336495;9531570;8650544;7705655;12943985;12874288;12039952;15308690;9920895;15729358;9238002;16424870;16417524;16368877;16344560;16341674;16311697;16289102;16239915;16203797;16189514;16113082;16085646;15870697;15839736;15809060;15808511;15746941;15674337;15635645;15601827;15489334;15337793;15255287;15249124;15246741;15171703;14737102;14705796;14702039;14691372;14592536;14559998;14521715;12935958;12935927;12835288;12810556;12691149;12549917;12505266;12482873;12477932;12468549;12420222;12403842;12399530;12393611;12235159;12213824;12193472;12138096;12101409;12080444;12060771;12009305;12000751;11971969;11929748;11891284;11812818;11574675;11439184;11382777;11358960;11331609;11274148;11106752;11014615;10938104;10882117;10882070;10872826;10866662;10860982;10786636;10760302;10698945;10617585;10611353;10567404;10531331;10480874;10454579;10361124;10337631;10207062;10022764;9795230;9773978;9717844;9653119;9642262;9632709;9628876;9491782;12805378;21254357;17363140;20413580;19965660;20080953;20133701;20133705;20155840;20185965;20190807;20346360;11353774;12665583;15254248;15336696;15604093;16456540;16778766;17195188;18024792;18845237;18922886;19128831;19322209;19458357;19465599;19626135;19628791;19732752;19799861;19828696;19850744;19855079;19884280;19902255;19917671;19937600;20159609;20159610;17455211;21245861;21383775;9192892;19913121;20544846;20572854;20628086;20634891;15670742;18978041;20211142;15528208;18270252;20543827;20736163;19863682;20804918;17712046;19345331;9288109;20574048;16712791;11980644;12503607;19401466;21053424;23064648;20354914;21190992;21150871;21272161;21255834;21310922;21364283;10082574;10428834;18073335;18087039;9415406;9486655;21262770;21451111;20338915;20807888;21613260;20130111;9430642;21187718;17641689;21803845;21900206;21934296;12048211;21984809;22022577;8598193;9346901;21949683;11050004;22056876;22182411;22045737;20548336;21736617;22181564;19350571;19144644;22135230;22318606;22498738;9121466;20693704;15941852;9380707;11279242;16219912;20467438;21988832;22982681;23000965;23064710;23208507;22982005;16179254;21923909;8603043;16469706;23102699 5914 A8K840;A8MUP8;F1D8N9;J3KSJ4;J3QRM2;P10276;Q6I9R7 ABBA01031831;ABBA01031832;AC080112;AF088895;AF283809;AK098172;AK130192;AK292205;AK303868;AK312564;AL522713;AL834159;AMYH01008384;BC008727;BC071733;BG394590;BM838347;BM992549;BY799725;CB105313;CH471152;CR457438;CS542437;DA061829;DA541711;FJ487576;HQ692826;HQ692827;NG_027701;NM_000964;NM_001024809;NM_001145301;NM_001145302;S50916;X06538;X06614;X56058;X58685 AAB19602;AAD05222;AAF87249;AAH08727;AAH71733;ABM84457;ABM84670;ACK86665;ADZ17337;ADZ17338;BAF84894;BAG35459;BAG53585;BAG64806;CAA29787;CAA29829;CAA39533;CAA41532;CAG33719;CAH56277;CAM91168;EAW60652;EAW60653;EAW60654;EAW60655;EAW60656;EAW60657;EAW60658;NP_000955;NP_001019980;NP_001138773;NP_001138774;P10276 Hs.654583 1657919;1675700;1705874;1734036;1745593;1783644;1796660;1848432;2160346;5015792;5120856 D17S1335;G10521;GDB:180970;GDB:376702;GDB:625834;L17737;RARA_480;RH80640;SHGC-81199;SHGC-83476;STS-N54985 NR1B1;RAR OTTHUMP00000164453;OTTHUMP00000164454;OTTHUMP00000164455;OTTHUMP00000164456;OTTHUMP00000164457;RAR-alpha;Retinoic acid receptor, alpha polypeptide;nuclear receptor subfamily 1 group B member 1;nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form;retinoic acid nuclear receptor alpha variant 1;retinoic acid nuclear receptor alpha variant 2;retinoic acid receptor alpha APPROVED protein-coding 9864 06769 180240;612376 REVIEWED 6481127 RASA2-IT1 RASA2 intronic transcript 1 (non-protein coding) 100874298 AC010184 miscrna 41376 1320450 RARRES2 retinoic acid receptor responder (tazarotene induced) 2 This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine, and is truncated on both termini from the proprotein. [provided by RefSeq, Dec 2008] 7 7 q36.1 149666351 149669639 - 150035407 150038763 - 1580863;6480464 12853948;21981776;9204961;19470637;19443732;19303973;19114666;19010784;18955196;18794339;18242188;17767914;17635925;16096270;15972683;15728234;15489334;14702039;14675762;14530373;12690205;12477932;10072769;9270552;22544171;22447628;20601676;20601896;19714754;19558533;20375212;19543554;19720798;19837789;19898481;20095887;20237162;20817486;20822885;22925375;21085476;21192818;21144611;21959042;22791765;22828724;22982016;21346723;21576834;23559624;21930706;21949124;22037282;21477622;22239017;22104178;22438234;22783586;22610747;22296200;22042485;22136911;21738955;22369992;22447224;22634313;22117111;21895733;22815691;22986456;22524287;23303213;23507574;22768214;23495698 5919 C9J8S2;Q99969 AACC02000108;AB015632;ABBA01035192;AC005586;AK092804;AK312197;AMYH01018138;BC000069;BM919890;BX448753;CH471173;CR541992;CR542026;NM_002889;U77594 AAB47975;AAH00069;AAS00384;BAA76499;BAG35130;CAG46789;CAG46823;EAL24473;EAW54120;EAW54121;NP_002880;Q99969 Hs.647064 1712194;1775212;2117479;2145972 G54148;RH18192;RH48459;SGC34814 HP10433;TIG2 OTTHUMP00000212797;OTTHUMP00000212798;OTTHUMP00000212799;OTTHUMP00000212800;RAR-responsive protein TIG2;chemerin;retinoic acid receptor responder protein 2;tazarotene-induced gene 2 protein APPROVED protein-coding ENSG00000106538 9868 03577 601973 REVIEWED 6481040 RASA3-IT1 RASA3 intronic transcript 1 (non-protein coding) 100874321 AL161774 miscrna 39938 735538 RASA2 RAS p21 protein activator 2 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member has a perinuclear localization and is an inositol 1,3,4,5-tetrakisphosphate-binding protein; a compound suggested to function as a second messenger. [provided by RefSeq, Jul 2008] 3 3 3 q22-q23 139629479 139754949 + 142688616 142813887 + 141205926 141331197 + 1580863;6480464;6907045 8812506;10074452;9382842;8917095;8699317;9796816;14530271;18029348;22318606;21139048;22210626;23222517 5922 D6RBA9;Q15283 AB209161;ABBA01059044;ABBA01059045;ABBA01059046;ABBA01059047;ABBA01059048;AC010184;AC092977;AF115573;AK292016;AK301015;AMYH01013543;CH471052;D78155;D78156;D82880;D82881;NM_006506 AAD09821;AAI72285;AAI72578;BAA11230;BAA11231;BAA11621;BAA11622;BAD92398;BAF84705;BAG62632;EAW78998;EAW78999;NP_006497;Q15283 Hs.655941 1339781;1686638;1711132;1789212;1852865;2165536;2165928;5021714 D3S3711;G65605;RH45159;RH47834;RH80770;SHGC-52540;SHGC-86225;ksks347 GAP1M GTPase-activating protein 1m;GTPase-activating protein of RAS;OTTHUMP00000217804;ras GTPase-activating protein 2 APPROVED protein-coding ENSG00000155903 9872 601589 REVIEWED 1342575 RARRES3 retinoic acid receptor responder (tazarotene induced) 3 Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008] 11 11 q23 63060849 63070506 + 63304273 63313930 + 1580863;6480464 21289206;15489334;9843971;19245694;18174256;17762858;17196792;16344560;15856468;15850806;15846304;15742394;12879006;12477932;11078805;10955811;10687848;9270552;9204961;19017631;18948594;12928434;21200404;19913121;20588308;20628086;16005186;19615464;16306043;22960220;23385459;21203974;21830273;22377296;19234166;22009441;22391244;22607805;22185736;22590509;21858038;22260551;22616991;20403326;22383950;19734229;23552410;22833682;22864531;23089253 5920 A6NG31;Q9UL19 AB030815;AB453252;ABBA01003255;AF060228;AF092922;AK293357;AK312110;AMYH01003694;AP001591;BC009678;CH471076;DA973023;NM_004585;R55646 AAC84000;AAF02294;AAH09678;ABM82370;ABM85548;BAB08109;BAG35046;BAG56873;BAH22446;EAW74156;NP_004576;Q9UL19 Hs.17466 1675064;1697466;1793654;1793656;1793658 PMC24531P1;PMC24531P2;PMC24531P3;RH102234;STS-W47350 HRASLS4;HRSL4;MGC8906;PLA1/2-3;RIG1;TIG3 HRAS-like suppressor 4;OTTHUMP00000237066;OTTHUMP00000237067;RAR-responsive protein TIG3;retinoic acid receptor responder protein 3;retinoic acid-inducible gene 1;retinoid-inducible gene 1 protein;tazarotene-induced gene 3 protein APPROVED protein-coding ENSG00000133321 9869 05479 605092 VALIDATED 2306251 RASA4B RAS p21 protein activator 4B 7 q22.1 102123586 102158224 - 11448776;9847074;12853948;21139048 100271927 C9J798;F5GXT2;F8W6L0 AC093668;AK301666;NM_001277335;XM_003118598;XM_003118599;XM_003118600;XM_003119053;XM_003119054;XM_003119055;XM_003959919;XM_003960009 BAG63140;C9J798;NP_001264264;XP_003118646;XP_003118647;XP_003118648;XP_003119101;XP_003119102;XP_003119103;XP_003959968;XP_003960058 Hs.696339 1670740;1849903;2179289 GDB:4585301;GDB:4585611;GDB:4585685 FLJ50902 OTTHUMP00000024897;OTTHUMP00000213282;OTTHUMP00000213285;RAS p21 protein activator 4B;putative Ras GTPase-activating protein 4B protein-coding ENSG00000170667 35202 VALIDATED 6776135 RASA4DP RAS p21 protein activator 4CD, pseudogene 7 q22.1 102319153 102330918 - 100133005 AC105052;AMYH01017770;AMYH01017771;AMYH01017772;AMYH01017773;AMYH01017774;AMYH01017775;AMYH01017776;AMYH01017777;AMYH01017778;AMYH01017779;AMYH01017780;AMYH01017781;AMYH01017782;AMYH01017783;AMYH01017784;AMYH01017785;AMYH01017786;AMYH01017787;AMYH01017788;AMYH01017789;AMYH01017790;AMYH01017791;AMYH01017792;AMYH01017793;AMYH01017794;AMYH01017795;AMYH01017796;AMYH01017797;AMYH01017798;AMYH01017799;AMYH01017800;AMYH01017801;AMYH01017802;AMYH01017803;AMYH01017804;AMYH01017805;AMYH01017806;AMYH01017807;AMYH01017808;AMYH01017809;AMYH01017810;NG_011686 pseudo 44226 INFERRED 1313439 RARS2 arginyl-tRNA synthetase 2, mitochondrial The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008] 6 6 6 q16.1 88642914 88718095 - 88280820 88356440 - 88224096 88299735 - 737633;6480464;7240710 12477932 17353931;17847012;16344560;15779907;15489334;14702039;14574404;20877624;22086604;21890473;23251661 57038 H0Y450;Q5T160 ABBA01040495;ABBA01040496;ABBA01040497;AF118086;AF143874;AK023550;AK093934;AK315669;AL049697;AL451126;AMYH01016493;BC010420;BC022341;BC105784;CA415020;CH471051;DA607375;NG_008601;NM_020320 AAF22030;AAH10420;BAB14608;BAG38034;EAW48584;EAW48585;EAW48586;EAW48587;EAW48588;EAW48589;EAW48590;EAW48591;NP_064716;Q5T160 Hs.485910 2115456;2141602;2174903;5015404 G29238;L17705;SGC30484;STS-W84730 ArgRS;DALRD2;MGC14993;MGC23778;PCH6;PRO1992;RARSL;dJ382I10.6 OTTHUMP00000016833;arginine--tRNA ligase;arginine-tRNA ligase;arginyl-tRNA synthetase-like;probable arginine--tRNA ligase, mitochondrial;probable arginyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000146282 21406 15209 611523;611524 REVIEWED 6769838 RASA4CP RAS p21 protein activator 4C, pseudogene 7 p13 44068486 44080222 - 16344560;8889548 401331 ABBA01058213;AC017116;AK025420;AK300412;AK309730;AMYH01017208;BF000400;BM666862;CR627444;DA333098;NR_024116 BAG62141 Hs.632627;Hs.696339 5022578;5037552;5109281;5127088 D1S1423;D1S1425;D8S2279;GDB:4585406 RASA4P pseudo 44185 VALIDATED 1319432 RARS arginyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008] 5 5 q35.1 167846041 167878889 + 167913463 167946311 + 1580863;6480464 17353931;7590355;18029348;17443684;16344560;16055448;15489334;12665801;12477932;10913161;10801842;10358004;9878398;9556618;8889548;8125298;6530022;1651330;562050;21145461;20877624;11714285;8052601;8078941;8188258;8449960;9278442;20923763;22863883;22939629;16196087;18781797;21139048;21890473;21906983;21987572;21081666;19471022;21628590;19380743;22053931;22190034;22797925 5917 E5RH09;E5RI24;E5RJM9;F5H3T8;P54136 ABBA01044125;ABBA01044126;AC020894;AK222797;AK302161;AK314795;AMYH01015794;AU125370;BC000528;BC014619;BM984528;BT007394;CA439316;CH471062;NM_002887;S80343 AAB35627;AAH00528;AAH14619;AAP36058;BAD96517;BAG37326;BAG63528;EAW61507;NP_002878;P54136 Hs.654907 1655807;2130484;2138228;2159511;5022727;5090970 RARS;RH10999;RH12410;RH65982;STS-AA011177;WI-16695 ArgRS;DALRD1;MGC8641 OTTHUMP00000160962;arginine tRNA ligase 1, cytoplasmic;arginine--tRNA ligase;arginine--tRNA ligase, cytoplasmic;arginyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000113643 9870 00142 107820 REVIEWED 1343935 RASA3 RAS p21 protein activator 3 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This family member is an inositol 1,3,4,5-tetrakisphosphate-binding protein, like the closely related RAS p21 protein activator 2. The two family members have distinct pleckstrin-homology domains, with this particular member having a domain consistent with its localization to the plasma membrane. [provided by RefSeq, Jul 2008] 13 13 q34 113765296 113916197 - 114747194 114898095 - 1580863;6480464 7637787;10828023;19433443;15592455;14702039;12477932;12356770;11350068;10869341;10049724;9382842;7782336;7691175;2158984;21832049;22939629;21139048;21906983;22318606;21963094;23000965;22505724 22821 B7Z3G9;F8W6X8;Q14644 ABBA01006271;ABBA01006272;ABBA01006273;ABBA01006274;AK128094;AK289746;AK294913;AK295861;AK313795;AL161774;AMYH01005406;AMYH01005407;AMYH01005408;AMYH01005409;AMYH01005410;AMYH01005411;BC038456;BC047242;BX537329;CH471085;NM_007368;X89399 AAH38456;AAH47242;BAF82435;BAH11922;BAH12205;CAA61580;EAX09232;EAX09233;EAX09234;NP_031394;Q14644 Hs.593075 1647732;1701188;1761625;1761923;1779470;1782952;2108893;2167928;2167930;2169956;2185797 A005U29;G20512;RASA3_9273;RH104222;SHGC-145617;SHGC-145856;SHGC-153448;SHGC-156053;SHGC-30142;STS-A09781;STS-W90753 GAP1IP4BP;GAPIII;MGC46517;MGC47588 GAP1(IP4BP);GTPase activating protein III;Ins(1,3,4,5)P4-binding protein;OTTHUMP00000018781;inositol 1,3,4,5-tetrakisphosphate-binding protein;ins P4-binding protein;ras GTPase-activating protein 3 APPROVED protein-coding ENSG00000185989 20331 05537 605182 REVIEWED 732468 RASA1 RAS p21 protein activator (GTPase activating protein) 1 The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012] 5 5 q13.3 86599907 86723489 + 86564070 86687743 + 1581296;737716;1580863;1300048;6480464;6484113;6907045;7240710 15917201;8275088 7628625;7642582;7544435;3201259;2833817;2574500;2307479;2172781;2164710;2123878;1850098;1717825;1633149;1544885;1383690;1347942;1336372;1331107;11389730;12091389;8647858;10822173;9743338;1545818;1512257;1385407;10769036;1689011;7689724;2173144;8890167;11331873;11116152;11071635;10899172;10799545;10790433;10713673;10708762;10697503;10669731;10644995;10571081;10508618;10319320;10200531;10187839;10092539;9674711;9632780;9603468;9564850;9233798;9219684;9218456;9174053;9169421;9079622;9034330;9008161;8955277;8798684;8766817;8663024;8570203;8537347;8395016;8384556;8360177;8270251;8155326;8137811;8084603;8006063;7782336;7760813;7691175;2122974;2188736;8618896;1553544;2157284;2176151;1581965;8344248;15542850;9113414;2821624;19151751;19012001;18784923;18761085;18446851;18363760;18327598;18024870;16971514;16051609;16046410;15713673;15688026;15592455;15504032;15489334;15187129;15121898;15041706;15010862;14639529;12730241;12730209;12679785;12477932;12441060;12112020;11976319;11896619;11847220;11786539;11751853;11604231;11536198;11350068;20592250;20688547;20702649;20610402;21173776;20676106;10428862;15077193;17412687;1756860;19435801;19578876;19773259;19786546;19843518;7537265;8649363;20007727;22974441;22949691;20821215;21368895;21460216;12151397;21646295;21768288;11551902;1571536;23650393;8977179;9478921;9822717;16344560;21664272;21832049;22205990;21900206;22342634;21139048;16273093;18067320;22200646;21348050;18556463;23158644;23322774;23386617;23377640 5921 B4DTL2;E9PGC0;P20936;Q59GK3;Q68CU6 AB209106;ABBA01062123;AC010410;AC018754;AC035142;AC126776;AK300263;AK300269;AK300406;AK312739;AMYH01015469;BC020761;BC033015;BC054891;BC070063;BC107870;CF528258;CH471084;CR749722;DA863496;M23379;M23612;NG_011650;NM_002890;NM_022650 AAA35865;AAA52517;AAH20761;AAH33015;AAH54891;BAD92343;BAG35610;BAG62024;BAG62030;BAG62136;CAH18488;EAW95931;EAW95932;EAW95933;NP_002881;NP_072179;P20936 Hs.664080 1669317;1672623;1673332;1682189;1700162;1701336;1773861;1850736;1850963;2108411;2122268;2145048;2150357;2151894;2160750;2176995;5022743 1578;D5S2372;RASA1;RASA1_8586;RH103694;RH104298;RH15818;RH45809;RH69245;RH69527;RH78240;RH93053;SGC30189;STS-AA004311;STS-M23379;STS-N22145;WI-14548 CM-AVM;CMAVM;DKFZp434N071;GAP;PKWS;RASA;RASGAP;p120GAP;p120RASGAP GTPase-activating protein;OTTHUMP00000222390;OTTHUMP00000222391;OTTHUMP00000222392;OTTHUMP00000222393;ras GTPase-activating protein 1;ras p21 protein activator 1;triphosphatase-activating protein APPROVED protein-coding ENSG00000145715 9871 00745 139150;605462;608354;608355 REVIEWED 6769963 RASAL2-AS1 RASAL2 antisense RNA 1 1 178060643 178063128 - 12477932 100302401 ABBA01027842;AK124464;AL160281;AMYH01001523;BC027927;NR_027982 Hs.736117 APPROVED miscrna ENSG00000224687 44170 PREDICTED 1319785 RASA4 RAS p21 protein activator 4 This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22 44176228 44179437 - 102007168 102044425 - 102220093 102257205 - 1580863;6480464 11448776;16344560;16009725;15489334;14702039;12853948;12477932;11594756;9628581;16169070;21460216;22318606 10156 E5RGQ8;E5RID2;E5RK78;E7ERK1;H0YB35;H0YBU2;O43374 AB011110;AC004084;AC093668;AC105052;AK026441;AK093486;AK302370;AK308653;AK310176;AK315928;AMYH01017786;AMYH01017787;AMYH01017788;AMYH01017789;AMYH01017790;AMYH01017791;AMYH01017792;AMYH01017793;AMYH01017794;AMYH01017795;BC110873;BC113663;BC143584;BC143585;BG289308;BQ890546;CH471128;DA028746;DA841834;DB114101;NM_001079877;NM_006989 AAB97935;AAI10874;AAI13664;AAI43585;AAP22345;ADR83403;BAA25464;BAG63692;BAH14299;EAW61133;NP_001073346;NP_008920;O43374 Hs.656696;Hs.696339 1670740;1849903;2179289;5015376;5022450;5022578;5037552;5106295;5124713;5127088 D10S275;D1S1423;D8S2279;GDB:4585301;GDB:4585406;GDB:4585437;GDB:4585611;GDB:4585685;RH47924;STS-AA025752 CAPRI;FLJ59070;GAPL;KIAA0538;MGC131890;RASA4B Ca2+-promoted Ras inactivator;OTTHUMP00000216453;OTTHUMP00000216454;OTTHUMP00000216455;OTTHUMP00000225391;Putative Ras GTPase-activating protein 4B;calcium-promoted Ras inactivator;ras GTPase-activating protein 4;rasGAP-activating-like protein 2 APPROVED protein-coding ENSG00000105808 23181 12135 607943 REVIEWED 1315020 RASEF RAS and EF-hand domain containing This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012] 9 9 9 q21.32 56167301 56247219 - 84787135 84867863 - 85597315 85678043 - 737633;1580863;6480464 12477932 18385040;14702039;21890458;21139048;21890473;23251661;17448446;8889548 158158 Q8IZ41 ABBA01033995;ABBA01033996;AK056176;AK290986;AL499602;AMYH01021454;AMYH01021455;AMYH01021456;AMYH01021457;AMYH01021458;BC023566;BM982321;CH471089;NM_152573 AAH23566;BAF83675;EAW62643;EAW62644;NP_689786;Q8IZ41 Hs.129136 1668240;1684381;1749859;2168698;5015613 D11S3059;RH70056;RH92568;SHGC-111590;WI-11205 FLJ31614;RAB45 OTTHUMP00000021538;RAB45, member RAS oncogene family;RAS and EF hand domain containing;ras and EF-hand domain-containing protein;ras-related protein Rab-45 protein-coding 26464 08337 611344 REVIEWED 1316836 RASAL2 RAS protein activator like 2 This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 1 q24 151171756 151557813 + 176330253 176710181 + 178062864 178448649 + 1580863;6480464 22542470;9877179;19079260;18633578;17081983;16710414;15324660;14743216;14702039;12477932;9455484;8889548;20571754;20816195;16341674;19531213;21139048;18985028;23251661;23314748;22683310 9462 A8K2P3;B1AKC7;H0Y638;Q9UJF2 AA127237;AB007970;AB209789;ABBA01027835;ABBA01027836;ABBA01027837;ABBA01027838;ABBA01027839;ABBA01027840;ABBA01027841;ABBA01027842;AF047711;AK000981;AK022662;AK075169;AK127614;AK290308;AK311017;AL035702;AL160281;AL365357;AL499617;AMYH01001523;AMYH01001524;AV706305;BC030292;BC041045;BC063442;BC078167;BC110611;BM973231;CH471067;NM_004841;NM_170692 AAD04814;AAH41045;AAH63442;AAH78167;AAI10612;BAD93026;BAF82997;EAW91017;EAW91018;EAW91019;NP_004832;NP_733793;Q9UJF2 Hs.496139 1335036;1651338;1667857;1692360;1697278;1739317;1771629;1853418;2108895;2127778;2129557;2136218;2138417;2164104;2164455;2167798;2183998;5014051;5021872;5022200;5022651;5037552;5125391;7185500 A008L15;AL009680;AL034038;D11S2921;D1S1895E;D1S212;D1S2304E;D1S2425;D8S2278;D8S2279;L18426;RASAL2_8944;RH102136;RH45181;RH48824;RH68586;SHGC-30983;SHGC-31043;SHGC-75981;SHGC-75982;SHGC-75985;SHGC-75986;sY3084 MGC129919;NGAP OTTHUMP00000032947;OTTHUMP00000213597;RAS protein activator-like 2;Ras GTPase activating protein-like;Ras protein activator like 1;ras GTPase-activating protein nGAP APPROVED protein-coding ENSG00000075391 9874 05845 606136 REVIEWED 1323476 RASAL1 RAS protein activator like 1 (GAP1 like) The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010] 12 12 12 q23-q24 113163615 113201034 - 112021701 112058404 - 113536624 113574044 - 1580863;6480464 9751798;18992247;17640920;16009725;15489334;12477932;12221082;11230166;15960973;20473946;23251034;22863883;22589738;21906983;22825043 8437 O95294 AB208935;ABBA01019947;AC089999;AF086713;AK294350;AK309562;AL136672;AMYH01004757;BC014420;BC093724;BC143258;BC143261;BC143262;CH471054;NM_001193520;NM_001193521;NM_004658 AAD09006;AAH14420;AAH93724;AAI43262;ABM83241;ABW03486;ACE87055;ACE87737;BAD92172;BAG57617;CAB66607;EAW98031;EAW98032;EAW98033;EAW98034;EAW98035;EAW98036;EAW98037;NP_001180449;NP_001180450;NP_004649;O95294 Hs.528693 RASAL GAP1 like protein;OTTHUMP00000241921;OTTHUMP00000241922;OTTHUMP00000241923;OTTHUMP00000241924;RAS-GTPase-activating protein-like;rasGAP-activating-like protein 1 APPROVED protein-coding ENSG00000111344 9873 04986 604118 REVIEWED 1314108 RASGEF1A RasGEF domain family, member 1A 10 10 10 q11.21 39694563 39706156 - 43009990 43082373 - 43689984 43762367 - 737633;1580863;6480464 12477932 15829955;15759212;14702039;17121879;19196962;19645719;19953087;23251661 221002 H7BYA3;Q8N9B8 ABBA01049996;AC068707;AK095136;AK127432;AMYH01002286;BC022548;CH471160;NM_145313 AAH22548;BAC04491;BAG54503;EAW86590;EAW86591;NP_660356;Q8N9B8 Hs.125293 1697250;2111290;2119976;2190935;5119837 D10S1176;GDB:182527;MARC_11791-11792:1029262607:1;RH102119;RH15675 CG4853;FLJ37817 CG4853 gene product;OTTHUMP00000019480;OTTHUMP00000019481;OTTHUMP00000195167;ras-GEF domain-containing family member 1A protein-coding ENSG00000198915 24246 15211 614531 VALIDATED 2302537 RASAL3 RAS protein activator like 3 19 19 19 p13.12 15459253 15472196 - 15423438 15436382 - 15562438 15575382 - 6480464 16344560;14702039;12477932;20936779 64926 M0QX12;Q86YV0;Q9H7J2 ABBA01051115;ABBA01051116;AC011492;AK024488;AK025091;AK122587;AL832868;AMYH01009554;AMYH01009555;BC030281;DA994945;NM_022904 AAH30281;BAB15064;BAB15778;BAC56928;NP_075055;Q86YV0 Hs.136979 2217736 PGLYRP2_3637 DKFZp667E013;FLJ00087;FLJ21438 RAS protein activator like-3 protein-coding ENSG00000105122 26129 VALIDATED 1323065 RASGEF1C RasGEF domain family, member 1C 5 5 5 q35.3 175153213 175262098 - 179460401 179568736 - 179527795 179636130 - 737633;1580863;6480464 12477932 14702039;16169070;8889548;20811636 255426 I6L9E5;Q8N431 ABBA01010056;ABBA01010057;AC104115;AC122713;AF449764;AK093160;AMYH01015963;BC036802;BC057759;BF967301;BM729117;CH471165;NM_175062 AAH36802;AAH57759;AAP97676;BAC04079;EAW53769;EAW53770;EAW53771;NP_778232;Q8N431 Hs.190559 2155132;2219606 RASGEF1C__5649;RH65540 FLJ35841 OTTHUMP00000161522;OTTHUMP00000161538;OTTHUMP00000224132;ras-GEF domain-containing family member 1C protein-coding ENSG00000146090 27400 15212 VALIDATED 1346276 RASD2 RASD family, member 2 This gene encodes a Ras-related protein that enriched in striatum. The product of this gene binds to GTP and possesses intrinsic GTPase activity. The gene belongs to the Ras superfamily of small GTPases. The exact function of this gene is unknown, but most striatum-specific mRNAs characterized to date encode components of signal transduction cascades. [provided by RefSeq, Jul 2008] 22 22 22 q13.1 19740616 19753311 + 34267298 34279992 + 35937352 35950046 + 704350;1580863;6480464 10467249 11976265;18029348;19255495;18815223;18571626;17556863;16945334;15761153;15489334;15461802;14724584;12477932;10947988;10591208 23551 Q96D21 ABBA01055418;AF279143;AL022334;AL831936;AMYH01012744;BC013419;CH471095;CR456477;NM_014310 AAG00868;AAH13419;ABM83672;ABM86960;CAG30363;CAK54458;CAK54757;EAW60064;NP_055125;Q96D21 Hs.474711 2177754 RH78091 MGC:4834;Rhes;TEM2 GTP-binding protein Rhes;OTTHUMP00000197925;Ras homolog enriched in striatum;tumor endothelial marker 2 APPROVED protein-coding ENSG00000100302 18229 15210 612842 REVIEWED 731548 RASD1 RAS, dexamethasone-induced 1 This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011] 17 17 p11.2 17338476 17340432 - 17397751 17399709 - 6480464 17167088;10471929;10840027;10673050;18922798;17985234;16489124;16381901;16225846;16189514;15489336;15489334;15184869;12818426;12498886;12477932;11997338;11842095;11086993;11076863;10947988;9452419;19549772;21378990;21247419;21915321 51655 Q9Y272 ABBA01009759;AC073621;AF069506;AF153192;AF172846;AF177335;AF222979;AF262018;AF498923;AK294073;AK312796;AMYH01008159;BC018041;BC042688;CH471196;NG_028074;NM_001199989;NM_016084 AAD34206;AAD34621;AAF01364;AAF72997;AAG17979;AAG44256;AAH18041;AAM21071;BAG35656;BAG57415;CAL37859;CAL38036;CAL38592;EAW55705;NP_001186918;NP_057168;Q9Y272 Hs.25829 1691122 RH78076 AGS1;DEXRAS1;MGC:26290 OTTHUMP00000065541;activator of G protein signaling;activator of G-protein signaling 1;dexamethasone-induced Ras-related protein 1;dexras1 (dexras1);ras-related protein APPROVED protein-coding ENSG00000108551 15828 08958 605550 REVIEWED 1348873 RASGEF1B RasGEF domain family, member 1B 4 4 4 q21.21 79640936 79685783 - 82567243 82612085 - 82348219 82393061 - 1580863;6480464 14702039;18391951;12488504;12477932;19645719;22303795;23377640 153020 D6RE71;Q0VAM2;Q8N437 ABBA01063417;ABBA01063418;ABBA01063419;AC006287;AC093618;AC093747;AK056257;AK291459;AK303625;AMYH01014349;AMYH01014350;BC036784;BC121003;BC121004;BX648337;CH471057;NM_152545 AAH36784;AAI21004;AAI21005;AAY40982;AAY41054;BAB71130;BAF84148;BAG64633;EAX05869;NP_689758;Q0VAM2 Hs.591696 1719775;1776399;2158788;2191105;5015961 D15S1477;D4S3092;D4S468;MARC_14757-14758:1010690492:3;RH123579 FLJ31695;GPIG4;MGC46251 GPI gamma-4;GPI-gamma 4;OTTHUMP00000219220;OTTHUMP00000219221;OTTHUMP00000219223;ras-GEF domain-containing family member 1B protein-coding ENSG00000138670 24881 17955 614532 PROVISIONAL 1344062 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009] 15 15 q24.2 77041341 77169895 - 79252289 79383215 - 1580863;6480464;6907045 10918068;17611684;17030618;16969075;16855028;16344560;14749369;14702039;12477932;12095702;10681520;10220378;9384379;7828890;7684828;7637786;22752028;1379731;12775420;9543386;12531897;9154803;10882715;11533041;11500497;10373510;11756498;12376548;12384139;12538592;12787561;14622581;15513915;17389601;19678938;19692568;20031603;20835236;21685891;22623531;21988832;23200899;23396134;22961779 5923 A8K270;F8VPA5;J3KQP9;Q13972;Q8IUU5 ABBA01060598;ABBA01060599;ABBA01060600;ABBA01060601;ABBA01060602;ABBA01060603;AC011944;AC104231;AF370414;AK092325;AK226101;AK290135;AK301205;AK309047;AL109674;AL109675;AL355696;AL359931;AMYH01006844;AMYH01006845;BC040275;CH471136;DA126882;L26584;M91815;NM_001145648;NM_002891;NM_153815;S62035 AAA58417;AAB26881;AAH40275;AAQ15250;BAF82824;BAH13432;EAW99141;EAW99142;NP_001139120;NP_002882;NP_722522;Q13972 Hs.459035 1647146;1709870;1727601;1767763;2133110;2147847;2157844;5021616;5107686 A004I12;D15S1337;D15S788;G63209;RASGRF1,_c.1826+37_T>A;RH46141;SHGC-3223;SHGC-84765;STS-L26584 CDC25;CDC25L;GNRP;GRF1;GRF55;H-GRF55;PP13187;ras-GRF1 OTTHUMP00000185565;Ras-specific guanine nucleotide-releasing factor, CDC25 homolog;Ras-specific nucleotide exchange factor CDC25;guanine nucleotide exchange factor;guanine nucleotide-releasing factor 1;guanine nucleotide-releasing factor, 55 kD;guanine nucleotide-releasing protein;ras-GRF1;ras-specific guanine nucleotide-releasing factor 1 APPROVED protein-coding ENSG00000058335 9875 606600 REVIEWED 69460 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011] 5 5 q13 80292314 80557709 + 80256508 80525981 + 1580863;6480464;6907045 17353931;17923690;16596198;14749369;14702039;12477932;11856323;10373510;9707409;9032266;9027497;23568457;11756498;12376548;12787561;14622581;18029348;19692568;20011522;20379614;23223532;11238945;16344560;21685891;22419666 5924 D6RAS9;O14827;Q68DX5 ABBA01062049;ABBA01062050;ABBA01062051;ABBA01062052;ABBA01062053;ABBA01062054;AC020901;AC026427;AF023130;AF181250;AK094809;AL598102;AMYH01015445;BC041953;BC126112;BC136296;BC143870;BU430075;BX502901;CH471084;CQ834808;CR749239;DA219722;DA230428;NG_030334;NM_006909 AAB80953;AAD55268;AAI26113;AAI36297;CAH05619;CAH18095;EAW95863;NP_008840;O14827 Hs.162129 1342000;1670207;1713373;1721957;1756053;1785776;1854704;2121005;2134309;2160303;2166107;2166109;2170040;2176561;2219608;5092852 A005S20;A009B02;D17S1288;D5S1437;D5S2322;D5S2632;G20459;G20891;G20896;G29263;G32371;G59864;RASGRF2__5650;RH119541;SHGC-142860;SHGC-84312 DKFZp781H1715;GRF2;RAS-GRF2 OTTHUMP00000147545;OTTHUMP00000222350;guanine nucleotide-releasing factor 2;ras guanine nucleotide exchange factor 2;ras-specific guanine nucleotide-releasing factor 2 APPROVED protein-coding ENSG00000113319 9876 07588 606614 REVIEWED 69137 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008] 15 15 q14 36567596 36644224 - 38780302 38857007 - 633848;1580863;6480464;6907045 9789079 22116551;9582122;17353931;19100522;19058789;18840781;18760455;18711365;17878389;17702895;17658605;17576779;17283063;17190838;16344560;15829980;14583629;12845332;12477932;11257115;10087292;21968647;20670164;19465406;19960345;21815871;22939629;21856938;21976405;21966541;21829393;20467438;23128233;22961080 10125 B2RA89;F5H514;H0YKM0;H0YKP8;H0YMF3;H0YMT0;H0YN83;H0YNG8;H0YNK9;Q9UI94 AA742351;AB208848;ABBA01038478;ABBA01038479;AC116158;AC124306;AF081195;AF081197;AF106071;AK295097;AK314091;AK316067;AMYH01006552;AMYH01006553;AY634315;AY858556;AY954625;AY966005;BC032849;BC067298;BC109296;BC109297;BU431038;CH471125;DA993002;NG_023268;NM_001128602;NM_005739 AAC79699;AAC97349;AAF21898;AAH67298;AAI09297;AAI09298;AAT47482;AAW32406;AAX54699;AAX76907;ACE87777;ACT64443;BAD92085;BAG36786;BAG58133;BAH14438;EAW92372;NP_001122074;NP_005730;O95267 Hs.591127 1684503;1718689;1736530;1765581;2117304;2145743;2159768;2175570 D15S732E;RH123035;RH68073;RH99024;SHGC-149041;SHGC-36087;SHGC-64063;WI-22267 CALDAG-GEFI;CALDAG-GEFII;MGC129998;MGC129999;RASGRP;V;hRasGRP1 RAS guanyl nucleotide-releasing protein 1;RAS guanyl-releasing protein 1;calcium and DAG-regulated guanine nucleotide exchange factor II;guanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1A;ras activator RasGRP;ras guanyl releasing protein 1 APPROVED protein-coding ENSG00000172575 9878 04909 603962 REVIEWED 1313233 RASIP1 Ras interacting protein 1 19 19 19 q13.33 46089934 46110062 - 53915654 53935782 - 49223842 49243970 - 737633;6480464 12477932 15031288;15489334;14702039;20379614;21060863;21102463;21987572;21926972;21988832;23372041;21963094 54922 M0R148;Q5U651;Q7L251;Q8IUR2 ABBA01032968;ABBA01032969;ABBA01032970;ABBA01032971;AC008888;AC009002;AK000408;AK123179;AMYH01009907;AMYH01009908;AY378097;BC021860;BC028614;BC042111;BX389914;CH471177;NM_017805 AAH21860;AAH28614;AAH42111;AAR24580;BAA91145;BAG53877;EAW52393;EAW52394;NP_060275;Q5U651 Hs.233955 2109739;2128034;2130417;2147841;2153122;2172742 A004F11;D19S1127;EST196348;G30919;RASIP1_9847;WI-16013 FLJ20401;RAIN ras-interacting protein 1 protein-coding ENSG00000105538 24716 15214 609623 VALIDATED 733193 RASGRP4 RAS guanyl releasing protein 4 The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 19 19 19 q13.1 35701935 35719058 - 43591538 43608785 - 38899698 38916945 - 1580863;6480464;6907045 11880369;18024961;14702039;12493770;12477932;11956218;21933395;22728827;19350351;21182207;18029348 115727 C9JHZ1 ABBA01040680;ABBA01040681;ABBA01040682;AC005789;AC011469;AC093076;AF448437;AK097292;AMYH01009780;AY048119;AY048120;AY048121;BC142721;BC146669;BC150202;BC151216;BQ028385;CH471126;FJ768677;FJ768678;FJ768679;FJ768680;FJ768681;FJ768682;NM_001146202;NM_001146203;NM_001146204;NM_001146205;NM_001146206;NM_001146207;NM_170604 AAI46670;AAI50203;AAK85701;AAK85702;AAK85703;AAL87858;ACN82414;ACN82415;ACN82416;ACN82417;ACN82418;ACN82419;EAW56794;NP_001139674;NP_001139675;NP_001139676;NP_001139677;NP_001139678;NP_001139679;NP_733749;Q8TDF6 Hs.130434;Hs.733690 1653108;2175811;5019070;5024413 G44334;L17877;RH65873;SHGC-37260 RAS guanyl-releasing protein 4;guanyl nucleotide releasing protein 4 APPROVED protein-coding ENSG00000171777 18958 09540 607320 REVIEWED 1314790 RASL12 RAS-like, family 12 15 15 15 q11.2-q22.33 42223841 42238547 - 63132728 63147441 - 65345675 65360388 - 737633;1580863;6480464 12477932 15761153;12107412;17207965;21832049;22318606 51285 B4DJW2;B4DU82;Q9NYN1 ABBA01038861;AC013553;AF233588;AK296261;AK300536;AK314914;AMYH01006715;BC053734;BI489884;CH471082;NM_016563 AAF60286;AAH53734;ADQ33054;BAG37426;BAG58974;BAG62244;EAW77709;EAW77710;NP_057647;Q9NYN1 Hs.27018 1669825;1680058;1736518;1851183;2109741;2146383 D15S619E;D15S726E;D15S953;RASL12_9697;RH48386;RH98169 RIS OTTHUMP00000164148;Ras family member Ris;ras-like protein Ris;ras-like protein family member 12 protein-coding ENSG00000103710 30289 15217 VALIDATED 1323188 RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated) The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13 61820826 61839372 - 64250959 64269504 - 64494383 64512928 - 633848;1580863;6480464;6907045 9789079 10918068;16344560;14702343;14702039;12477932;12239348;11503142;11292831;9341881;16169070;20606303;21832049;22318606;21768215;21890473;22505724 10235 A6NDC7;A6NHE2;A6NJ28;A8MTF9;A8MVK8;C9JKH6;C9JZ82;E7EM78;E7EMB4;E7EWQ7;Q7LDG7 ABBA01024147;ABBA01024148;AF043722;AF043723;AF081194;AK092852;AK092882;AK122694;AK124023;AK314637;AMYH01003710;AMYH01003711;AP001462;BC110306;BC117151;CH471076;CQ979233;DA286186;DB498812;NG_007574;NM_001098670;NM_001098671;NM_153819;U78170;Y12336 AAC79698;AAD12741;AAF07219;AAF07220;AAI10307;AAI17152;ADR83220;BAG37199;BAG52620;BAG53672;CAA73005;CAI45372;EAW74281;EAW74282;EAW74283;NP_001092140;NP_001092141;NP_722541;Q7LDG7 Hs.99491 1689494;1742535;1800074;1800076;1802398;1802520;1802890;1803624;1803626;1804856;1807070;1807586;1807588;1808570;1809994;1810396;1812000;1812980;1815296;1816270;1820034;1821838;1822956;1824856;1825410;1826390;1827638;1829194;1833348;1837284;1837330;1840426;1842176;1843082;1843514;1843572;1845186;1970654;1970656;1970658;1970660;1970662;1970664;1970666;1970668;1970670;1970672;1970674;1970676;1970678;1970680;1970682;1970684;1970686;1970688;1970690;1970692;1970694;1970696;1970698;1970700;1970702;1970704;1970706;1970708;1970710;1970712;1970714;1970716;1970718;1970720;1970722;1970724;1970726;1970728;1970730;1970732;1970734;1970736;1970738;1970740;1970742;1970744;1970746;1970748;1970750;1970752;1970754;1970756;1970758;1970760;1970762;1970764;1970766;1970768;1970770;1970772;1970774;1970776;1970778;1970780;1970782;1970784;1970786;1970788;1970790;1970792;1970794;1970796;1970798;1970800;1970802;1970804;1970806;1970808;1970810;1970812;1970814;1970816;1970818;1970820;1970822;1970824;1970828;1970830;1970832;1970834;1970836;1970838;1970840;1970842;1970844;1970846;1970848;1970850;1970852;1970854;1970856;1970858;1970860;1970862;1970864;1970868;1970870;1970872;1970874;1970876;1970878;1970880;1970884;1970886;1970888;1970890;1970892;1970894;1970896;1970900;1970902;1970904;1970906;1970908;1970910;1970912;1970916;1970918;1970920;1970922;1970924;1970926;1970928;1970930;2130916;2151267;2159869;2177141;2214880;2214882;5111979 D11S4627;ECD00892;ECD00893;ECD02084;ECD02146;ECD02334;ECD02718;ECD02719;ECD03363;ECD04500;ECD04765;ECD04766;ECD05267;ECD05989;ECD06190;ECD07005;ECD07504;ECD08684;ECD09177;ECD11089;ECD12005;ECD12566;ECD13527;ECD13812;ECD14309;ECD14939;ECD15724;ECD17817;ECD19809;ECD19832;ECD21399;ECD22291;ECD22749;ECD22966;ECD22995;ECD23810;G31866;G33090;G33102;G43609;GDB:197858;REN56210;REN56211;REN56212;REN56213;REN56214;REN56215;REN56216;REN56217;REN56218;REN56219;REN56220;REN56221;REN56222;REN56223;REN56224;REN56225;REN56226;REN56227;REN56228;REN56229;REN56230;REN56231;REN56232;REN56233;REN56234;REN56235;REN56236;REN56237;REN56238;REN56239;REN56240;REN56241;REN56242;REN56243;REN56244;REN56245;REN56246;REN56247;REN56248;REN56249;REN56250;REN56251;REN56252;REN56253;REN56254;REN56255;REN56256;REN56257;REN56258;REN56259;REN56260;REN56261;REN56262;REN56263;REN56264;REN56265;REN56266;REN56267;REN56268;REN56269;REN56270;REN56271;REN56272;REN56273;REN56274;REN56275;REN56276;REN56277;REN56278;REN56279;REN56280;REN56281;REN56282;REN56283;REN56284;REN56285;REN56286;REN56287;REN56288;REN56289;REN56290;REN56291;REN56292;REN56293;REN56294;REN56295;REN56297;REN56298;REN56299;REN56300;REN56301;REN56302;REN56303;REN56304;REN56305;REN56306;REN56307;REN56308;REN56309;REN56310;REN56311;REN56312;REN56313;REN56314;REN56315;REN56317;REN56318;REN56319;REN56320;REN56321;REN56322;REN56323;REN56325;REN56326;REN56327;REN56328;REN56329;REN56330;REN56331;REN56333;REN56334;REN56335;REN56336;REN56337;REN56338;REN56339;REN56341;REN56342;REN56343;REN56344;REN56345;REN56346;REN56347;REN56348;RH93814;stSG635664;stSG635665 CALDAG-GEFI;CDC25L F25B3.3 kinase-like protein;OTTHUMP00000042931;OTTHUMP00000069245;OTTHUMP00000069246;OTTHUMP00000196700;RAS guanyl nucleotide-releasing protein 2;RAS guanyl-releasing protein 2;calcium and DAG-regulated guanine nucleotide exchange factor I;calcium and diacylglycerol-regulated guanine nucleotide exchange factor I;cdc25-like protein;guanine exchange factor MCG7;hCDC25L APPROVED protein-coding ENSG00000068831 9879 09278 605577 REVIEWED 2290196 RASSF10 Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 11 11 11 p15.2 13156837 13158788 + 12987272 12989223 + 13030970 13033653 + 18272789;19570220;19934646;20956940;23251661;22415519;22113481 644943 A6NK89 ABBA01061126;AC084859;AMYH01003397;BX098487;NM_001080521 A6NK89;NP_001073990 Hs.134650 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor-like;ras association domain-containing protein 10 protein-coding 33984 614713 VALIDATED 1343885 RASL11A RAS-like, family 11, member A RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008] 13 13 13 q12.2 8913338 8916701 + 26742464 26745827 + 27844464 27847827 + 6480464 15033445;12477932;20168301;19322201 387496 Q6T310 ABBA01035750;AL159977;AMYH01004987;AY439004;BC132703;BC136761;CH471075;NM_206827 AAI32704;AAI36762;AAS07577;ADR82880;EAX08402;NP_996563;Q6T310 Hs.192131 OTTHUMP00000018162;ras-like protein family member 11A APPROVED protein-coding ENSG00000122035 23802 17956 612403 PROVISIONAL 1312152 RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] 2 2 p25.1-p24.1 33514920 33643162 + 33661416 33789798 + 2314812;6480464;6907045 19421330 10934204;17012239;16381901;16344560;15657177;15572660;15545601;15489336;15489334;15213298;14702039;12730099;12477932;11230166;11221888;11076863;10048485;8401585;17353931;20876802;19838193;20379614;20516000;21832049;21602881;15894621;21988832;23273568 25780 C9IYA5;C9J9C9;C9JSS2;C9JWP0;C9K0P4;H7C352;Q8IV61 AA351079;AB020653;ABBA01074908;ABBA01074909;AC020594;AK125551;AK292983;AMYH01010241;BC027849;BX114300;BX647990;CH471053;DA336406;DA403707;DA439087;FB342951;FB711074;NM_001139488;NM_015376;NM_170672 AAH27849;AAY15037;BAA74869;BAF85672;CAL37457;CAR81476;CAS91492;EAX00432;EAX00433;EAX00434;NP_001132960;NP_056191;NP_733772;Q8IV61 Hs.143674 1689724;1693734;1734906;1850113;1856283;2109737;2184630;5014051;5015861;5016478;5020274;5020881;5022200;5022578;5022651;5037552;5109281;7185938 D10S16;D11S2921;D1S1423;D1S1425;D2S1679E;D2S1998;D8S2278;D8S2279;GDB:434012;L17709;L18426;L18441;RASGRP3_9408;RH93807;SHGC-52802;SHGC-58804;WI-11876 GRP3;KIAA0846 OTTHUMP00000201243;OTTHUMP00000201245;OTTHUMP00000201303;calcium and DAG-regulated guanine nucleotide exchange factor III;guanine nucleotide exchange factor for Rap1;ras guanyl-releasing protein 3 APPROVED protein-coding ENSG00000152689 14545 15213 609531 VALIDATED 1606572 RASL10A RAS-like, family 10, member A 22 22 22 q12.2 13508778 13511604 - 28038922 28041748 - 29708922 29711745 - 6480464 8975699;17984325;15833841;15731001;15489334;12477932;20646714;21264544;21631628 10633 Q92737 ABBA01055261;AC002059;AMYH01012695;BC022473;BC040434;BC050739;BC058077;BF436320;BX111994;CH471095;NM_006477;Y07847 AAH22473;AAH40434;AAH50739;AAH58077;CAA69175;EAW59796;EAW59797;NP_006468;Q92737 Hs.73088 1771911;2115415;2157285 RH17231;RH70963;WI-20850 RRP22 OTTHUMP00000199144;OTTHUMP00000199145;RAS-related on chromosome 22;ras-like protein RRP22;ras-like protein family member 10A;ras-related protein on chromosome 22 protein-coding ENSG00000100276 16954 03744 602220 VALIDATED 1322024 RASL10B RAS-like, family 10, member B 17 17 17 q12 30968817 30980678 + 31082871 31094653 + 34058679 34070540 + 737633;1580863;6480464 12477932 17984325;17028781;16344560;15489334;14702039;17207965;21832049;19953087;19322201 91608 Q96S79 AB047296;ABBA01011234;AC006237;AK122652;AMYH01008354;AMYH01008355;BC041133;CH471147;DA250459;NM_033315 AAH41133;ADQ32999;BAB60894;BAG53643;EAW80132;NP_201572;Q96S79 Hs.437035 MGC47540;RRP17;VTS58635 OTTHUMP00000163889;Ras-related protein 17;ras-like protein VTS58635;ras-like protein family member 10B protein-coding ENSG00000141150 30295 15215 612128 VALIDATED 1353496 RASL11B RAS-like, family 11, member B RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008] 4 4 4 q12 51225048 51229555 + 53423252 53427759 + 53728495 53733002 + 1580863;6480464 22087225;17628721;16189514;15033445;14702039;12477932;21832049;19953087 65997 Q9BPW5 ABBA01003383;AC023154;AK027267;AK314942;AMYH01014181;AY839725;AY839726;BC001087;BC001846;BC025694;BK001672;CH471057;NM_023940 AAH01087;AAH01846;AAH25694;AAX46798;AAX46799;BAB55008;BAG37448;DAA02135;EAX05441;NP_076429;Q9BPW5 Hs.8035 1341734 D4S2971 MGC2827;MGC4499 OTTHUMP00000128290;ras-like protein family member 11B APPROVED protein-coding ENSG00000128045 23804 15216 612404 PROVISIONAL 1343966 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011] 3 3 p21.3 50342221 50353371 - 50367217 50378367 - 2291977;2291979;2299860;2299863;2299869;2299862;2299865;2299867;2299861;2299866;2299868;6480464;6484113;6907045;7240710 12222680;17325427;18702824;18469797;18425370;18480993;17960617;16545186;18608185;17645803;18483325 16891396;16810318;16641997;16619251;16606445;16596198;16510573;16344548;16329043;16316825;16315018;16229803;16186793;16140931;16125301;16096369;16028839;16007340;15987713;15980887;15949439;15948711;15942659;15870267;15867363;15867337;15799820;15780049;15761971;15736067;15711568;15700308;15546880;15540210;15480433;15469871;15447998;15378022;15375503;15251938;15231747;15205320;15145946;15075335;15027117;14961576;14961078;14871978;14729613;14688019;14603253;14601057;14511407;14506151;12912945;12839968;12839965;12794755;12792742;12684417;12673680;12670917;12647816;12594816;12545168;12527916;12477932;12399230;12142046;12114441;12082624;12082623;12082610;12067994;12032847;11390984;11306494;11085536;10998413;10888881;15753381;11857081;11333291;15109305;12024041;14743218;19548529;19478941;19454503;19450668;19374895;19366060;19276349;19223555;19193434;19172108;19165202;19160099;19148529;19140316;19118008;19098985;19062280;19024105;18824877;18822131;18783461;18691570;18679651;18641684;18616639;18592002;18566590;18538349;18537155;18514071;18494062;18474619;18358501;18349282;18347058;18337602;18336597;18322962;18313166;18286482;18182852;18172292;18086755;18071316;18058812;17994635;17967182;17920725;17899687;17889669;19470737;17720308;17698033;17695396;17683489;17668224;17634119;17608924;17606310;17598981;17563743;17538946;17526942;17523078;17477876;17473182;17444856;17379520;17360030;17342751;17320110;17251440;17170014;17099724;17064406;16951144;16937357;16918136;16912161;21660959;21489991;22716213;21809394;21643015;22581300;20496080;18330258;19578875;21205828;21156971;20497257;20677556;12762840;12795841;16169070;18788633;19145506;19221469;19326371;19473831;19506903;19509163;19637319;19652091;19657672;19727727;19761124;19795445;19821102;19854132;19887622;19940364;19962312;20042089;20056647;20069457;20086174;20140873;20146887;20184324;20237496;20361264;20453000;20471512;20562859;20697344;21115918;20075396;19799084;20208994;19957692;20193080;20038516;18799029;20668305;20800603;21036752;22266866;22695491;19181545;20505321;20877461;20864173;20360646;21199877;20079060;21134643;20955597;22733432;22172412;19686743;21722812;21338215;21468893;21473856;21450690;21473137;21624251;18029348;21364923;21274674;21874044;21788308;21900206;21868547;21910689;20360068;21822036;21955482;21884695;22389451;22591718;18372912;20842524;21221769;21873787;22195963;22332908;22382007;22446336;22615811;22139571;20800513;22297548;22142825;22246327;22394463;22232300;20535589;21139048;21838870;21890473;22670522;23147544;23009572;23455922;23455924;22766745;23187089;23139773;23038753;22315090;23055343;22447862;22694820;22520501 11186 Q9HB18 ABBA01024550;AC002455;AC002481;AF040703;AF061836;AF102770;AF102771;AF102772;AF132675;AF132676;AF132677;AF286217;AF291719;AK292638;AK300994;AMYH01013170;BC110412;BC117153;BC143879;BE247372;BI915594;BI966696;BM152368;BM562405;BQ072763;BT020047;BT020048;CH471055;DQ444319;NG_023270;NM_001206957;NM_007182;NM_170712;NM_170713;NM_170714 AAB67312;AAC16001;AAC70910;AAD44174;AAD44175;AAD44176;AAF35127;AAF35128;AAF35129;AAG10038;AAG10064;AAI10413;AAI17154;AAI43880;AAV38850;AAV38851;ABD97859;BAF85327;BAG62613;EAW65098;EAW65099;EAW65100;EAW65101;EAW65102;NP_001193886;NP_009113;NP_733830;NP_733831;NP_733832;Q9NS23 Hs.476270 1679459;1735190;2154909 D3S2832E;RH91127;SHGC-56838 123F2;NORE2A;RASSF1A;RDA32;REH3P21 OTTHUMP00000195503;OTTHUMP00000195504;OTTHUMP00000195505;OTTHUMP00000195507;Ras association (RalGDS/AF-6) domain family 1;Ras association domain family protein 1;WUGSC:H_LUCA12.5;cardiac-specific ras association domain family 1 protein;pancreas-specific ras association domain family 1 protein;ras association domain-containing protein 1;tumor suppressor protein RDA32 APPROVED protein-coding ENSG00000068028 9882 05470 211980;605082 REVIEWED 1313644 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008] 20 20 p13 4708669 4752291 - 4760669 4804291 - 1580863;6480464 12732644;18294275;17891178;17549418;17320110;17013898;17013896;16344560;16265349;16012945;15806169;15569673;15489334;12477932;11780052;11210185;8724849;8125298;11857081;19509163;19525978;19555684;19773381;19962960;20368356;20379614;20562859;20920251;19513612;20716062;21409489;21792082;21890473;21906983 9770 P50749;Q8IZA5 ABBA01053857;ABBA01053858;AK222650;AK291458;AK307232;AL133354;AMYH01011688;AY154470;AY154471;AY154472;BC110385;BC117118;BC117120;CH471133;CR627436;D79990;DA333367;NM_014737;NM_170774 AAI10386;AAI17119;AAI17121;AAN59975;AAN59976;AAN59977;ADR82929;BAA11485;BAD96370;BAF84147;CAH10522;EAX10445;NP_055552;NP_739580;P50749 Hs.631504 1652432;1653760;1849729;2177882;5024039;5024761;5109281 D16S325;D1S1425;RH25385;RH36905;RH66432;SHGC-34960;WI-12264 CENP-34;DKFZp781O1747;KIAA0168;RASFADIN OTTHUMP00000030170;centromere protein 34;ras association domain-containing protein 2 APPROVED protein-coding ENSG00000101265 9883 15218 609492 REVIEWED 1322918 RASSF3 Ras association (RalGDS/AF-6) domain family member 3 The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003] 12 12 12 q14.2 64669061 64754040 + 63290560 63375459 + 65004293 65091347 + 1580863;6480464 19148488;15569673;15489334;12477932;11965544;20237496;21832049;18029348;22593196;21906983 283349 Q496A9;Q86WH2 AA425154;ABBA01026596;ABBA01026597;ABBA01026598;ABBA01026599;AC025262;AC078962;AMYH01004549;AMYH01004550;AY217662;AY217663;BC100949;BC100950;BC100951;BC100952;CH471054;NM_178169;NR_040718 AAI00950;AAI00951;AAI00952;AAI00953;AAO61687;AAO61688;EAW97134;EAW97135;EAW97136;NP_835463;Q86WH2 Hs.643605 1336204;1647961;1697524;1723467;1769748;2128919 AFMa066xb9;D12S1548;D12S1585;RH102266;RH118552;RH65638 MGC119194;MGC119195;MGC119197;RASSF5 OTTHUMP00000239511;OTTHUMP00000239512;ras association domain-containing protein 3 APPROVED protein-coding ENSG00000153179 14271 08448 607019 VALIDATED 1317179 RASSF4 Ras association (RalGDS/AF-6) domain family member 4 The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008] 10 10 10 q11.21 41458395 41493346 + 44775225 44810178 + 45455219 45490172 + 6480464 16385451;19066393;17373700;15574778;15489334;15375500;15164054;14702039;12477932;11748221;20562859 83937 G8JLC1;Q5T737;Q5T739;Q9H2L5;R4GNA4 AB209446;ABBA01050023;ABBA01050024;AF260335;AK055763;AK092770;AK097272;AK311531;AL353801;AL713716;AMYH01002297;AMYH01002298;AY216713;AY216714;AY216715;AY216716;BC032593;BI601296;CH471160;NM_032023 AAG44666;AAH32593;AAO61138;AAO61139;AAO61140;AAO61141;BAD92683;CAD28511;EAW86627;EAW86628;NP_114412;Q9H2L5 Hs.522895 1645131;1687590;1705670;1736028;1762783;1769383;2119900;2150623;2160193 A002O19;D10S1304E;G19246;NIB353;RH66474;RH79743;SGC38063;SHGC-146564;SHGC-83413 AD037;MGC44914 OTTHUMP00000019493;Ras association (RalGDS/AF-6) domain family 4;Ras association domain family 4;ras association domain-containing protein 4;tumor suppressor RASSF4 APPROVED protein-coding ENSG00000107551 20793 15219 610559 REVIEWED 1314751 RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 11 11 11 p15.5 623629 626683 + 551450 554018 + 560971 564025 + 6480464 12812986;19367319;18272789;16730941;15489334;15098441;12477932;8889548;1339391;20629633;21278800;22623531;22695170 8045 E9PM39;F8W7Q0;H0YEI0;Q02833 ABBA01015192;AL535761;AMYH01003287;AP006284;BC106921;BC106922;CA315057;CH471158;M91083;NM_001143993;NM_001143994;NM_003475 AAA58667;AAI06922;AAI06923;ABZ92268;EAX02348;EAX02349;EAX02350;EAX02351;NP_001137465;NP_001137466;NP_003466;Q02833 Hs.72925 2133520;7186171 STS-M91083 C11orf13;HRAS1;HRC1;MGC126069;MGC126070 HRAS1-related cluster protein 1;HRAS1-related cluster-1;OTTHUMP00000162847;OTTHUMP00000162848;OTTHUMP00000162849;OTTHUMP00000228594;Ras association (RalGDS/AF-6) domain family 7;chromosome 11 open reading frame 13;ras association domain-containing protein 7 protein-coding ENSG00000099849 1166 00878 143023 VALIDATED 1606212 RASSF5 Ras association (RalGDS/AF-6) domain family member 5 This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q32.1 204747502 204829239 + 206680879 206762616 + 6480464;6907045 22750872;9488663;12845325;15109305;16892067;19435914;19118008;19098985;18616639;18596699;18452173;18211824;17716979;17320110;16757334;16713569;16710414;16606445;16520020;16516329;16421102;16352687;16344560;15980887;15569673;15489334;15378027;14702039;14667507;12676952;12477932;11978988;11965544;11864565;11857081;20562859;20064523;20237496;20339001;20346707;20379614;20508983;21669874;20969767;20434789;22173032;19060904;21988832;23128233;23538446;23455922;22695170 83593 Q8WWW0 AB209145;ABBA01010191;AC244034;AF445801;AK056568;AK074115;AK289861;AK291268;AK292039;AL354681;AL591846;AL832784;AMYH01001676;AY062002;AY062003;AY216268;AY261332;BC004270;BC007203;BC042651;CD367770;CH471100;DA370470;NG_029062;NM_182663;NM_182664;NM_182665 AAH04270;AAH07203;AAH42651;AAL38592;AAL40388;AAL40389;AAO61668;AAP83360;ABM83887;ABM87207;ACE87261;BAB84941;BAD92382;BAF82550;BAF83957;BAF84728;CAI15252;CAI15253;CAI15254;CAI15256;CAI46164;EAW93541;EAW93542;EAW93543;EAW93544;EAW93545;NP_872604;NP_872605;NP_872606;Q8WWW0 Hs.497579 1687175;2146287 D1S3553;RH98662 MGC10823;MGC17344;Maxp1;NORE1;NORE1A;NORE1B;RAPL;RASSF3 OTTHUMP00000034533;OTTHUMP00000034534;OTTHUMP00000034535;OTTHUMP00000034536;Rap1-binding protein;Ras association (RalGDS/AF-6) domain family 5;Ras effector-like protein;new ras effector 1;novel Ras effector 1;ras association domain-containing protein 5;regulator for cell adhesion and polarization enriched in lymphoid tissue;regulator for cell adhesion and polarization enriched in lymphoid tissues;tumor suppressor RASSF3 APPROVED protein-coding ENSG00000136653 17609 06117 607020 REVIEWED 1605848 RASSF6 Ras association (RalGDS/AF-6) domain family member 6 This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 4 4 4 q13.3 71798579 71846099 - 74657726 74705204 - 74437267 74486348 - 6480464 18563170;17404571;17367779;15489334;14702039;12477932;19570220;19797269;21442347;21906983;14605870;22430796;22530128;22577168;22695170 166824 Q6ZTQ3 ABBA01022992;AC074250;AI579909;AK002032;AK126346;AMYH01014301;AW070877;AW407403;AY217664;AY217665;BC058835;BM923326;BU959014;BX424428;BX957171;CH471057;CR749283;NM_001270391;NM_001270392;NM_177532;NM_201431 AAH58835;AAO61689;AAO61690;BAC86530;CAH18138;EAX05685;EAX05686;NP_001257320;NP_001257321;NP_803876;NP_958834;Q6ZTQ3 Hs.529677 1645049;1649641;1656216;1676164;1679599;1727883;1729321;1787562;2107545;2114955;2123927;5022651 D11S2921;D4S2405;D4S3330;G63358;G64140;RASSF6__6966;RH93658;SHGC-155683;SHGC-50408;SHGC-50410;SHGC-53436;SHGC-67647 DKFZp686K23225 OTTHUMP00000160474;OTTHUMP00000160475;OTTHUMP00000160476;OTTHUMP00000220441;Ras association (RalGDS/AF-6) domain family 6;putative RAS binding protein;ras association domain-containing protein 6 APPROVED protein-coding ENSG00000169435 20796 15220 612620 REVIEWED 1318811 RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 12 12 12 p12.3 31273156 31379362 + 26003229 26124092 + 26111964 26232825 + 6480464 17194498;16462760;16189514;15489334;15324660;12477932;11836357;10951517;20514026;11053263;14702039;16344560;20379614;17207965;21832049;14676191;22318606;21139048 11228 A8K8G8;F5GYP8;F5H0S5;F5H343;F5H7J1;F5H8B9;F5H8C5;H0YG85;Q8NHQ8 AB093206;ABBA01068028;ABBA01068029;AC055707;AK021604;AK290055;AK292333;AL122049;AMYH01004346;AY665468;AY665469;AY665470;AY665471;BC030021;BC040580;BE440096;CH471094;CR456905;DB044325;DB055998;HC877937;NG_029077;NM_001164746;NM_001164747;NM_001164748;NM_007211;U82396 AAC95425;AAH30021;AAV54603;AAV54604;AAV54605;AAV54606;ADQ32384;BAC98838;BAF82744;BAF85022;CAG33186;CBM42859;EAW96522;EAW96523;EAW96524;EAW96525;NP_001158218;NP_001158219;NP_001158220;NP_009142;Q8NHQ8 Hs.696433 1671973;1697692;1855627;2147326;2176601 G17661;RH102362;RH69290;STS-N36106;WI-17542 C12orf2;DKFZp434O0227;FLJ11542;HOJ1;HoJ-1 OTTHUMP00000240062;OTTHUMP00000240063;OTTHUMP00000240066;OTTHUMP00000240125;carcinoma associated HOJ-1;carcinoma-associated protein HOJ-1;chromosome 12 open reading frame 2;ras association domain-containing protein 8 APPROVED protein-coding ENSG00000123094 13232 07084 608231 REVIEWED 7244742 RASSF8-AS1 RASSF8 atnisense RNA 1 12477932;14702039;16344560 100506451 ABBA01068027;ABBA01068028;AC055707;AK055961;AK090817;AMYH01004345;AMYH01004346;BC004962;BC071788;BX109355;DA306887;DA682910;DB074156;NG_029077;NR_038227;NR_038228 Hs.560092 1778734;2175407;5022578;5024039;5037552;5037554;5118800;5127056 D11S3663;D16S325;D1S1423;D8S2279;D8S2282;RH66626;SHGC-37112;STS-T96122 miscrna 48637 VALIDATED 731307 RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008] 12 12 12 q21.31 85861052 85893065 - 84722462 84754449 - 86198331 86230318 - 633607;1580863;6480464 9837933 18272789;14702039;12477932 9182 O75901 ABBA01053441;ABBA01053442;AC016993;AC137768;AF056209;AK022089;AMYH01004638;BC031589;CH471054;NM_005447 AAD03250;AAH31589;ABM81713;ABM84869;BAG51066;EAW97399;NP_005438;O75901 Hs.527881 1646254;2219444 G17641;PAMCI__5820 P-CIP1;PAMCI;PCIP1 OTTHUMP00000242230;PAM COOH-terminal interactor protein 1;peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor protein-1;ras association domain-containing protein 9 APPROVED protein-coding ENSG00000198774 15739 08826 610383 REVIEWED 1606205 RAX2 retina and anterior neural fold homeobox 2 This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 3706731 3709853 - 3720087 3723219 - 3769087 3772219 - 6480464;7240710 15028672;12477932;20237496 84839 G3V243;Q96IS3 ABBA01002843;AC005777;AMYH01009317;AY211277;BC007284;BC018709;BC032512;CH471139;NG_011565;NM_032753 AAH07284;AAH18709;AAH32512;AAP41547;EAW69288;NP_116142;Q96IS3 Hs.532691 ARMD6;CORD11;MGC15631;QRX;RAXL1 OTTHUMP00000245242;Q50-type retinal homeobox protein;retina and anterior neural fold homeobox like 1;retina and anterior neural fold homeobox protein 2;retina and anterior neural fold homeobox-like protein 1 APPROVED protein-coding ENSG00000173976 18286 17508 610362 REVIEWED 1606797 RAX retina and anterior neural fold homeobox This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009] 18 18 18 q21.32 53652123 53658480 - 55085247 55091605 - 56934267 56940625 - 6480464;7240710 10625658;19397404;19158959;14662654;12477932;11069920;10766016;9177348;20057906;20494911;21697133;20301552;22558175;22736936 30062 G3V2C8;Q86V11;Q9Y2V3 AB593018;ABBA01056166;ABBA01056167;AC067859;AF115392;AMYH01009033;AMYH01009034;BC051901;CH471096;NG_013031;NM_013435 AAD23438;AAH51901;AAI56202;AAI57123;BAJ83973;EAW63093;NP_038463;Q9Y2V3 Hs.278957 MCOP3;RX OTTHUMP00000163643;retina and anterior neural fold homeobox protein;retinal homeobox protein Rx APPROVED protein-coding ENSG00000134438 18662 03530 601881;611038;612067 REVIEWED 1602482 RAVER2 ribonucleoprotein, PTB-binding 2 1 1 1 p31.3 63501670 63589801 + 64983366 65071500 + 65210778 65298915 + 6480464 22561236;16051233;15489334;14702039;12477932;10997877;20237496;22146317 55225 B4DRE9;E9PE10;Q9HCJ3 AB046799;ABBA01074554;ABBA01074555;ABBA01074556;ABBA01074557;AC093427;AC099678;AK001632;AK058029;AK299228;AL359613;AMYH01000682;BC065303;CH471059;NM_018211 AAH65303;BAA91798;BAB13405;BAG61261;CAB94883;EAX06549;EAX06550;NP_060681;Q9HCJ3 Hs.591443 1341650;1656313;1673415;1753649;1763169;1771673;1777110;2153967;2183170 D1S2754;G16069;RH66126;SHGC-107556;SHGC-146900;SHGC-56664;SHGC-74942;SHGC-74945;SHGC-74955 DKFZp762D1011;FLJ10770;KIAA1579 OTTHUMP00000010677;protein raver-2;ribonucleoprotein PTB-binding 2 protein-coding ENSG00000162437 25577 11154 609953 VALIDATED 7245021 RBAK-RBAKDN RBAK-RBAKDN readthrough This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011] 8889548;9847074 100533952 Q9NYW8 ABBA01039438;AC092032;AMYH01016992;BM684776;BM929719;BU620638;NM_001204513 NP_001191442 Hs.396178 2160617 RH66119 RBAK-LOC389458 RBAK-LOC389458 readthrough protein-coding ENSG00000146587 42971 PROVISIONAL 5135111 RBBP4P1 retinoblastoma binding protein 4 pseudogene 1 5 5 5 p15.2 14820262 14822564 - 14849290 14851594 - 14796290 14798594 - 20562864 642954 ABBA01020639;AC025456;AMYH01014923;NG_008273;NG_023410 RBBP4P pseudo 42368 INFERRED 5135099 RBBP4P2 retinoblastoma binding protein 4 pseudogene 2 3 3 92178559 92179822 - 93794755 93796018 - 100420527 ABBA01026969;AC130896;AMYH01013339;NG_025601 pseudo 42369 INFERRED 5135112 RBBP4P3 retinoblastoma binding protein 4 pseudogene 3 6 6 6 p11.2 59776687 59777967 - 57949066 57950349 - 57841110 57842390 - 730180 ABBA01039497;AL512427;AMYH01016371;NG_022302 pseudo 42370 INFERRED 5135110 RBBP4P4 retinoblastoma binding protein 4 pseudogene 4 6 6 6 p11.2 59081450 59082630 - 58553978 58555278 - 58446022 58447202 - 727842 ABBA01018454;AL390237;AMYH01016378;NG_022304 pseudo 42371 INFERRED 5135106 RBBP4P5 retinoblastoma binding protein 4 pseudogene 5 14 14 q11.2 1895291 1897802 + 22031949 22034460 + 100288451 ABBA01061259;AE000658;AMYH01005596;NG_022854 pseudo 42372 INFERRED 5509858 RBBP4P6 retinoblastoma binding protein 4 pseudogene 6 5 84486445 84486792 - 100820741 ABBA01062100;AC117522;AMYH01015462;NG_030512 pseudo 42373 INFERRED 1603914 RAVER1 ribonucleoprotein, PTB-binding 1 19 19 19 p13.2 10322277 10339705 - 10287888 10305314 - 10426888 10444314 - 6480464 19322201;18377426;17931803;17081983;16964243;15489334;15302935;12477932;11853319;11724819;11181995;19913121;20628086;19423540;19523901;20406964;20438785;22939629;20811636;18781797;20360068;21139048;21890473;21252943;22709580 125950 E9PAU2;K7EKA4;K7EKR9;K7ERR4;Q8IY67 AB075858;ABBA01029936;AC011511;AC114271;AMYH01009471;BC037428;BC037565;BX401103;CH471106;CR746909;DB446023;NM_133452 AAH37565;BAB85564;EAW84093;EAW84094;EAW84095;NP_597709;Q8IY67 Hs.707428 1744159;1771906;2120642 GDB:433273;RH16014;WI-14289 KIAA1978 protein raver-1;ribonucleoprotein PTB-binding 1 protein-coding ENSG00000161847 30296 11484 609950 VALIDATED 1602691 RBAK RB-associated KRAB zinc finger This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011] 7 7 7 p22.1 5044901 5068467 + 5052079 5075645 + 5085452 5109119 + 6480464 10702291;19284880;19240061;18307725;17121540;16344560;14702039;14664718;12070015;12477932;20466629;17000644;21549307;20360068 57786 I3L0D1;Q9NYW8 ABBA01039438;AC092032;AK093275;AK293069;AL711327;AMYH01016992;BC136675;BC136676;CD238907;CH471144;DB363461;NM_001204456;NM_021163 AAI36676;AAI36677;AAQ93364;BAF85758;EAW87321;NP_001191385;NP_066986;Q9NYW8 Hs.396178 2185064;2217898 RBAK_3666;RH12523 ZNF769 OTTHUMP00000149966;OTTHUMP00000200569;OTTHUMP00000200570;RB-associated KRAB repressor;RB-associated KRAB zinc finger protein;hRBaK;zinc finger protein 769 APPROVED protein-coding ENSG00000146587 17680 16296 608191 REVIEWED 1319644 RB1CC1 RB1-inducible coiled-coil 1 The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] 8 8 q11 53697571 53789579 - 53535018 53627026 - 1599411;1580863;4889529;6480464;6484113;7240710 12068296;20034776 17353931;19437535;19258318;19225151;18676680;18443221;18285457;18036779;17707572;17706618;17081983;16865226;16344560;16061648;16043512;15968549;15489334;15375585;14533007;12477932;12221124;12163359;12095676;11850849;17015619;10769033;9039502;7724523;17986458;19170196;19211835;19625176;19690328;19692168;19888451;20453000;20562859;20614030;23289756;21203526;21822266;21602932;21637919;21903422;21795712;22396748;21775823;22049074;21139048;20301425;21717524;21988832;23262492;22751121;23043107 9821 E5RH44;E5RH63;E5RHX0;E5RJC1;H0YC28;H0YC30;Q8TDY2 AB059622;ABBA01041704;ABBA01041705;ABBA01041706;AC090814;AC113139;AK291699;AK294579;AK307436;AMYH01018717;AY173931;BC017556;BC032074;CH471068;D86958;DA326842;NG_015833;NM_001083617;NM_014781;Z35085 AAH17556;AAO17545;ABM83328;BAA13194;BAB69690;BAF84388;BAG57770;EAW86719;EAW86720;EAW86721;NP_001077086;NP_055596;Q8TDY2 Hs.196102 1648382;1655448;1655450;1660414;1661805;1664767;1669203;1721755;1734078;1852073;1856724;2128392;2133639;2141806;2177377;2180931 A006G21;A007F23;A007F24;D8S1068;D8S1215;D8S1669;D8S2116;G20788;G59745;RH12077;RH25416;RH78347;WI-12431;WI-13801;WI-15400;WI-19524 CC1;DRAGOU14;FIP200 200 kDa FAK family kinase-interacting protein;FAK family kinase-interacting protein of 200 kDa;OTTHUMP00000226290;OTTHUMP00000226291;RB1-inducible coiled-coil protein 1 APPROVED protein-coding ENSG00000023287 15574 06019 114480;606837 REVIEWED 1602264 RBAKDN RBAK downstream neighbor (non-protein coding) 7 7 7 p22.1 5071086 5072202 + 5078258 5079380 + 5111691 5112854 + 12477932;17207965 389458 A6NC62 AA292828;AA398766;ABBA01039438;AC092032;AI015600;AMYH01016992;AW138835;BC031661;CH471144;CR745855;NR_015343 A6NC62;ADQ32827;EAW87319 Hs.733005 2160617;5118093 G64276;RH66119 MGC35170 hypothetical gene supported by bc031661 APPROVED miscrna 33770 14212 VALIDATED 731712 RB1 retinoblastoma 1 The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] 13 13 q14.2 47775884 47954027 + 48877883 49056026 + 1580863;2291991;2296051;2299896;2299895;2299055;2299894;2299890;2299893;2299887;2299891;2299888;2299889;6480464;6484113;6907045;7240710 11108660;17242700;18234283;16510568;14648178;17047088;15312366;11549509;18383208;12754735;17026804;15981808 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5925 P06400;Q92728 AB208788;ABBA01051004;ABBA01051005;ABBA01051006;AF043224;AF551763;AK291258;AK299179;AK300284;AK307125;AK307730;AL136960;AL392048;AMYH01005101;AMYH01005102;AMYH01005103;AY124936;AY243567;AY260472;AY429568;AY643840;BC039060;BC040540;CH471075;L11910;L41870;L41890;L41891;L41893;L41894;L41895;L41896;L41897;L41898;L41899;L41904;L41908;L41909;L41910;L41912;L41913;L41914;L41997;L49225;L49231;L49232;M15400;M19701;M27866;M28419;M33647;NG_009009;NM_000321;X16439 AAA53483;AAA53484;AAA60259;AAA65735;AAA65736;AAA65737;AAA65738;AAA65739;AAA65740;AAA65741;AAA65744;AAA65745;AAA65746;AAA65747;AAA65748;AAA65749;AAA69806;AAA69807;AAA69808;AAA82557;AAA82558;AAA82563;AAB59465;AAB59471;AAB59473;AAB59482;AAB59580;AAC26845;AAH39060;AAH40540;AAN41646;AAN64133;AAO62758;AAP39867;AAT66036;ABM82490;ABM85678;BAD92025;BAF83947;BAG61225;BAG62042;CAA34462;EAX08793;EAX08794;NP_000312;P06400 Hs.408528 1334923;1654934;1660218;1689580;1712585;1740887;1740889;1740891;1740991;1741021;1741119;1741595;1741917;1742881;1743537;1743539;1743541;1743543;1743545;1743547;1743549;1743551;1743553;1743555;1743557;1743559;1743561;1743563;1743565;1743567;1743569;1743571;1743573;1744243;1744245;1744777;1744779;1744781;1744791;1744793;1744795;1744797;1744799;1744801;1744803;1744805;1744807;1744809;1744811;1744813;1744815;1744817;1744819;1744821;1744823;1744957;1745699;1745713;1758753;1782962;1789627;1789629;1789631;1789633;1789635;1789637;1789639;1789641;1789643;1789645;1789647;1789649;1789651;1789653;1789655;1789657;1789659;1789661;1789663;1789665;1789667;1789669;1789671;1789673;1789675;1789677;1789679;1789681;1789683;1793048;1796664;2118068;2140629;2145428;2148839;2160508;5120522;5120524;5120526;7187601 A010A01;D10S2288;D13S153;D2Mit39;G35409;GDB:171125;GDB:171126;GDB:171127;GDB:177234;GDB:177381;GDB:177827;GDB:181552;GDB:186839;GDB:213526;GDB:344103;GDB:344106;GDB:344109;GDB:344112;GDB:344115;GDB:344118;GDB:344121;GDB:344125;GDB:344131;GDB:344140;GDB:344144;GDB:344147;GDB:344150;GDB:344155;GDB:344158;GDB:344161;GDB:344164;GDB:344168;GDB:344171;GDB:344175;GDB:344179;GDB:344182;GDB:438527;GDB:438535;GDB:568501;GDB:568504;GDB:568507;GDB:568637;GDB:568643;GDB:568650;GDB:568656;GDB:568670;GDB:568677;GDB:568683;GDB:568695;GDB:568702;GDB:568706;GDB:568727;GDB:568730;GDB:568733;GDB:568736;GDB:568739;GDB:568746;GDB:568749;GDB:583298;GDB:632490;GDB:632620;PMC193706P1;RB1-1;RB1-11;RB1-12;RB1-13;RB1-14;RB1-15;RB1-17;RB1-18;RB1-19;RB1-2;RB1-20;RB1-21;RB1-22;RB1-24;RB1-25;RB1-26;RB1-27;RB1-3;RB1-3UUTF;RB1-4;RB1-5;RB1-7;RB1-8;RB1-9;RB1-UTR1;RB1-UTR2;RB1-UTR3;RB1-UTR4;RB1-UTR5;RB1-UTR6;RB1_249;RH17613;RH17879;RH69055;SHGC-171066;SHGC-5978;SHGC-680 OSRC;RB;p105-Rb;pRb;pp110 OTTHUMP00000018397;retinoblastoma 1;retinoblastoma suspectibility protein;retinoblastoma-associated protein APPROVED protein-coding ENSG00000139687 9884 01574 109800;180200;182280;259500;614041 REVIEWED 5128967 RBBP8P1 retinoblastoma binding protein 8 pseudogene 1 X X 118221085 118222952 - 117766326 117768193 - 100420552 AL391237;AMYH01022875;AMYH01022876;NG_026754 pseudo 39583 INFERRED 5128966 RBBP8P2 retinoblastoma binding protein 8 pseudogene 2 13 13 8720256 8720992 + 27651355 27652091 + 100420607 ABBA01035752;AL158062;AMYH01004985;NG_024906 pseudo 39584 INFERRED 1313612 RBBP5 retinoblastoma binding protein 5 This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010] 1 1 q32 203322602 203357754 - 205055270 205091150 - 1580863;6480464 16344560;22231628;17041588;14992727;15199122;17081983;16604156;12482968;12477932;11337467;8889549;7558034;15960975;17846119;17925232;17500065;16253997;16603732;17355966;17761849;18082152;18680430;19187761;19433449;19556245;20064463;20085832;20093773;16510874;19131338;17998332;16712791;21124902;15960974;16510875;17050672;18026121;19047629;20574068;21220120;21285357;22939629;20516061;18838538;19136632;20937768;20305087;21502505;21139048;21531708;21890473;21900206;21903422;22079093;22147691;21884981;22665483;19322201;21653943 5929 B4DLF8;Q15291 AA235403;ABBA01027430;ABBA01027431;ABBA01027432;AC093422;AK290137;AK296978;AK297540;AL583832;AMYH01001667;AU099032;BC037284;BC053856;BC075059;BC075060;BG392257;BQ020418;CB133829;CD710496;CH471067;DA797022;NM_001193272;NM_001193273;NM_005057;X85134 AAH37284;AAH53856;AAH75059;AAH75060;ABM82131;ABM85314;BAF82826;BAG59520;BAG59939;CAA59446;EAW91536;EAW91537;EAW91538;EAW91539;NP_001180201;NP_001180202;NP_005048;Q15291 Hs.519230 1666026;1683994;1713611;2134317;5015619;5024039;5037552;5118444 AL009343;D11S3114;D11S3316;D16S325;D8S2279;RH120684;RH66579;SHGC-35381 RBQ3;SWD1 OTTHUMP00000035177;OTTHUMP00000035178;RBBP-5;SWD1, Set1c WD40 repeat protein, homolog;retinoblastoma-binding protein 5;retinoblastoma-binding protein RBQ-3 APPROVED protein-coding ENSG00000117222 9888 02826 600697 REVIEWED 1317354 RBBP8 retinoblastoma binding protein 8 The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] 18 18 q11.2 18767293 18860447 + 20513295 20606449 + 1580863;6480464;6484113;7240710 11739404;17525340;10764811;19357644;19342888;19270026;19202191;18950845;18676825;18391951;18171986;18171670;18095152;18007598;17965729;17546052;17112672;16581787;16287852;16189514;15302935;12477932;12015313;11959865;11751867;11689934;11427533;11313276;10918303;10910365;10449734;10196224;9811458;9738006;9721205;9535825;8076819;14578343;12925972;10779361;14654780;15084581;10608806;11781686;18716619;19702191;20546612;20635389;17525342;19584272;19633668;19690177;20007691;20064462;16818604;20829486;20974687;20364137;20694014;20975951;21052091;16600870;22832221;15485915;21988832;23333306;23353824;16391231;20351172;21998596;21335604;22231403;22544744;22733999;19369211;21908405;16843262;18285836;19452558;23468639 5932 A8MTZ9;F6Q6H0;I6L8A6;J3KSA4;J3QL00;J3QL93;J3QLH2;J3QLW6;J3QQU9;J3QRM0;J3QSC6;J3QSH7;Q99708 ABBA01022647;ABBA01022648;ABBA01022649;ABBA01022650;ABBA01022651;ABBA01022652;AC091147;AC106033;AF043431;AK292481;AMYH01008883;AMYH01008884;BC001170;BC030590;BG723261;BU187672;BX648221;CH471088;NG_012121;NM_002894;NM_203291;NM_203292;U72066 AAC14371;AAC34368;AAH30590;ABM81882;ABM85045;BAF85170;EAX01143;EAX01144;EAX01145;EAX01146;NP_002885;NP_976036;NP_976037;Q99708 Hs.546282 1335194;1335304;1338512;1658015;2132359;2168632;7186572 D18S78;D18S866;D7S663;RH70701;SHGC-57607;SHGC-58091 COM1;CTIP;JWDS;RIM;SAE2;SCKL2 CTBP-interacting protein;DNA endonuclease RBBP8;OTTHUMP00000162574;OTTHUMP00000162575;RBBP-8;Seckel syndrome 2;retinoblastoma-binding protein 8;retinoblastoma-interacting myosin-like;retinoblastoma-interacting protein and myosin-like;sporulation in the absence of SPO11 protein 2 homolog APPROVED protein-coding ENSG00000101773 9891 04990 251255;604124;606744 REVIEWED 1323349 RBBP4 retinoblastoma binding protein 4 This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 p35.1 32889411 32918841 + 33116749 33151812 + 1580863;6480464;6484113 14718166;17643391;17803295;17846119;14609955;9150135;17353931;8350924;19015307;18577416;17974974;17616526;17244783;16429158;15701600;15635413;15489334;15456747;15451426;15225548;14966907;14702039;14645126;12943729;12920132;12893285;12705869;12670868;12628926;12493763;12477932;12435631;12430566;12351676;12124384;12091390;11788710;11784859;11777905;11470869;11331609;11302704;11118440;11102443;11013263;10961924;10866654;10819992;10734134;10471500;10471499;10444591;10220405;10220385;9804427;9790534;9651585;9614144;9520398;9427644;8858152;8602529;8125298;7503932;1699755;1286667;9150133;11171972;16169070;12198550;11238380;11756549;19913121;20628086;19862764;15385962;16387653;17255935;17827154;19644445;20123894;18247557;18067919;18182442;11283269;11297506;11602581;11850410;12453419;14612411;15882967;16091750;16159877;16431907;16728976;16738318;19394292;19454010;19686092;19734887;19759913;20953179;21047798;15306854;20388487;20585571;20671031;20127688;20523938;20547755;15664198;16622419;20562864;21182205;22863883;22939629;23022380;21689726;16196087;21123648;17531812;18457437;18781797;19410544;19703393;20360068;21081666;21139048;21532573;21900206;21906983;21942715;9885572;20080577;21907836;22407294;22586326;21937684;17671431;16009940;17079684;19322201;21628590;21653943;21670149;10204490;22505724;23178455;23281010 5928 B4DRT0;C9JPP3;E9PIC4;E9PND5;E9PNS2;E9PNS6;H0YCT5;H0YDK2;H0YEU5;H0YF10;Q09028 ABBA01023408;ABBA01023409;ABBA01023410;AC114489;AK056356;AK056550;AK222779;AK299251;AK299410;AK312571;AMYH01000469;BC003092;BC015123;BC053904;BC075836;BT007309;CH471059;CQ887963;DC315298;NM_001135255;NM_001135256;NM_005610;X71810;X74262 AAH03092;AAH15123;AAH53904;AAH75836;AAP35973;ABM83425;ABM86638;BAD96499;BAG35466;BAG61282;BAG61392;CAA50685;CAA52321;CAH61602;EAX07513;EAX07514;EAX07515;NP_001128727;NP_001128728;NP_005601;Q09028 Hs.16003 1698268;1770435;2106673;2160465;2165629;2173319;2186489;5015861;5016596;5021872;5022651;5023065;5037552;5091589;7185938 D10S16;D11S2921;D1S1793E;D8S2279;GDB:631802;RH102670;RH16653;RH70422;SHGC-30801;SHGC-57292;SHGC-74547;SYNCOILIN__5360;ha1305;sY3084 NURF55;RBAP48 CAF-1 subunit C;CAF-I 48 kDa subunit;CAF-I p48;MSI1 protein homolog;OTTHUMP00000009691;OTTHUMP00000009734;OTTHUMP00000009735;OTTHUMP00000197566;RBBP-4;chromatin assembly factor 1 subunit C;chromatin assembly factor I p48 subunit;chromatin assembly factor/CAF-1 p48 subunit;histone-binding protein RBBP4;nucleosome-remodeling factor subunit RBAP48;retinoblastoma-binding protein 4;retinoblastoma-binding protein p48 APPROVED protein-coding 9887 04232 602923 REVIEWED 1323690 RBBP6 retinoblastoma binding protein 6 The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p12.2 24458409 24491685 + 24550908 24584184 + 1580863;6480464 21145461;18624398;18851979;17081983;16964243;16396680;15617101;15489334;15475430;15302935;15231748;14702039;12477932;12064457;8595913;9010216;17470788;20171287;17207965;20936779;19454010;20184719;22939629;16051665;21676486;21139048;21890473;22130672;19471022;22139301;22779921;22163034;18654987;21706016;22678362;23000965;23251661 5930 H3BSK8;H3BUN0;I3L3Y2;Q96PH3 AB112074;AB112075;ABBA01017093;AC010321;AF063596;AF116625;AF352051;AK023612;AK026954;AK303040;AL359564;AMYH01007390;AY072922;BC015318;BC029352;BC029649;BC030964;BC051317;BC063524;BC073938;BC101139;BC101140;BC101141;BC101142;BC114353;BC114354;BC118667;BC139830;BF727303;BI489954;BM314442;BX538187;BX648661;CB529116;CD638608;CH471145;NM_006910;NM_018703;NM_032626;X85133 AAF71048;AAG43155;AAH15318;AAH29352;AAH63524;AAH73938;AAI01140;AAI01141;AAI01142;AAI01143;AAI14354;AAI14355;AAI18668;AAI39831;AAI72357;AAL05625;AAL68925;ADQ32273;BAB15600;BAC77636;BAC77637;BAG64162;CAA59445;CAB94869;EAW55789;EAW55790;EAW55791;EAW55792;NP_008841;NP_061173;NP_116015;Q7Z6E9 Hs.188553 1643722;1645791;1710418;1769717;2181572;2182756 RH48310;RH69978;RH71297;SHGC-61139;SHGC-61177;SHGC-82501 DKFZp686P0638;DKFZp761B2423;MY038;P2P-R;PACT;RBQ-1;SNAMA E3 ubiquitin-protein ligase RBBP6;OTTHUMP00000122471;OTTHUMP00000122472;RB-binding Q-protein 1;p53-associated cellular protein of testis;proliferation potential-related protein;protein P2P-R;retinoblastoma-binding Q protein 1;retinoblastoma-binding protein 6;retinoblastoma-binding protein 6, isoform 3 APPROVED protein-coding ENSG00000122257 9889 02964 600938 REVIEWED 732412 RBBP7 retinoblastoma binding protein 7 This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] X X p22.2 16772698 16798386 - 16862773 16888534 - 1580863;6480464;6484113 17573780;17626165;17803295;17846119;9150135;7503932;18577416;18571423;17314274;16916647;15635413;15456747;15451426;15146197;15016378;14981905;14702039;14666671;14645126;14609955;12920132;12705869;12670868;12493763;12477932;12435631;12124384;11788710;11784859;11118440;11102443;10866654;10471500;10444591;10220405;9804427;9790534;9765217;9651585;9427644;2005966;10471499;11746496;11394910;11756549;19913121;20628086;11283269;11297506;12453419;14612411;15701600;16091750;16449650;16738318;18285464;18385154;19394292;19454010;19686092;19759913;20953179;20388487;20332121;16344560;20562859;16387653;17255935;19497860;19615732;19644445;19655816;19862764;18067919;18182442;20127688;20523938;16622419;20562864;21182205;22863883;22939629;22990118;18457437;18781797;19410544;19703393;21081666;21139048;21228219;21532573;21890473;21906983;21942715;22118674;9885572;21937684;15601853;20714342;19471022;20080577;22407294;22586326;17079684;21670149;21258344;21963094;23000965;23281010;23455922;23752268;22190034;22505724;22797925 5931 C9J7L0;C9JAJ9;E9PC52;Q16576;Q5JNZ6;Q5JP01;Q5JP02;Q6FHQ0 ABBA01071476;ABBA01071477;ABBA01071478;ABBA01071479;ABBA01071480;ABBA01071481;AK091911;AK127332;AK291567;AK310309;AL929302;AMYH01022112;AMYH01022113;BC114500;BC114501;BQ775345;CH471074;CN414343;CR541701;DA924163;DB460068;NM_001198719;NM_002893;U35143;X72841 AAC50231;AAI14501;AAI14502;BAF84256;BAG52439;CAA51360;CAG46502;EAW98919;EAW98920;EAW98921;NP_001185648;NP_002884;Q16576 Hs.495755 2168977;2180811;2217900;5015861;5022651;5037552;7185938 D10S16;D11S2921;D8S2279;DXS8320;RBBP7_3854;RH68864 MGC138867;MGC138868;RbAp46 G1/S transition control protein-binding protein RbAp46;OTTHUMP00000022992;OTTHUMP00000022994;OTTHUMP00000197565;RBBP-7;histone acetyltransferase type B subunit 2;histone-binding protein RBBP7;nucleosome-remodeling factor subunit RBAP46;retinoblastoma-binding protein 7;retinoblastoma-binding protein RbAp46;retinoblastoma-binding protein p46 APPROVED protein-coding ENSG00000102054 9890 04231 300825 REVIEWED 1353930 RBBP8NL RBBP8 N-terminal like 20 20 20 q13.33 57720567 57737891 - 60418688 60435984 - 60985293 61002629 - 15489334;14702039;12477932;11780052;16344560 140893 Q6ZQU4;Q8NC74 ABBA01040086;AK074919;AK128718;AK290299;AL121832;AMYH01012054;AMYH01012055;BC006450;BC033142;BC137326;BC137327;CH471077;CQ782881;DA871775;NM_080833 AAH06450;AAH33142;AAI37327;AAI37328;BAC11293;BAC87589;BAF82988;CAF86109;EAW75362;EAW75363;NP_543023;Q8NC74 Hs.180374 C20orf151;dJ908M14.3 OTTHUMP00000031483;RBBP8 N-terminal-like protein;hypothetical protein LOC140893;uncharacterized protein C20orf151 APPROVED protein-coding ENSG00000130701 16144 12751 VALIDATED 1323615 RBFA ribosome binding factor A (putative) 18 18 18 q23 74566839 74583142 + 75895346 75907380 + 77794346 77810652 + 737633;6480464 12477932 15489334;14702039;20562859;17207965 79863 Q8N0V3 ABBA01013902;AC090360;AF261073;AF439745;AK024825;AK124595;AK311239;AK311463;AMYH01009137;BC014195;BC057772;CH471117;NM_001171967;NM_024805 AAH14195;AAH57772;AAL32051;AAM20740;ADQ31736;BAB15022;EAW66642;EAW66643;EAW66644;NP_001165438;NP_079081;Q8N0V3 Hs.728931 1725491;1789092;2119784;5022578;5091661 A008M11;D1S1423;G65681;RH119142;STS-F04195 C18orf22;FLJ18281;FLJ18505;FLJ21172;FLJ42604;FLJ97160;HsT169 OTTHUMP00000163845;putative ribosome-binding factor A, mitochondrial APPROVED protein-coding 26120 07959 VALIDATED 1349258 RBBP9 retinoblastoma binding protein 9 The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008] 20 20 20 p11.2 18541234 18551942 - 18415184 18425887 - 18467184 18477887 - 69955;1580863;6480464 9697699 22430187;19004028;15489334;14702039;12730717;12477932;12296629;11780052;10449909;18029348;20080647;21689726;21933118;21044950;21139048;21890473 10741 O75884 ABBA01054047;AF039564;AF237576;AK023897;AL121893;AL832411;AMYH01011743;BC015938;BC020627;BC026880;CH471133;NM_006606 AAC63498;AAH15938;AAL83721;ABZ92296;CAI46193;EAX10236;EAX10237;EAX10238;NP_006597;O75884 Hs.69330 2149473;5016596;5091824 GDB:631802;RH47075;RH48739 BOG;MGC9236;RBBP10 B5T overexpressed gene protein;B5T-overexpressed gene protein;OTTHUMP00000030360;RBBP-10;RBBP-9;putative hydrolase RBBP9;retinoblastoma-binding protein 10;retinoblastoma-binding protein 9;retinoma-binding protein 9 APPROVED protein-coding ENSG00000089050 9892 04217 602908 REVIEWED 1320751 RBKS ribokinase The ribokinase encoded by this gene belongs to the pfkB family of carbohydrate kinases. It phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27849543 27958241 - 27857770 27966727 - 28004266 28113223 - 737633;1580863;6480464;6907045 12477932 15489334;17585908;8382990;20379614;21044950 64080 B4DV96;E7EQ18;E9PBU0;H7C091;Q9H477 ABBA01045221;ABBA01045222;ABBA01045223;AC021171;AC110084;AJ404857;AK300989;AMYH01010200;AY643715;BC017425;BX648909;CH471053;NM_022128 AAH17425;AAT64917;AAY24155;BAG62608;CAC12877;EAX00550;EAX00551;NP_071411;Q9H477 Hs.11916 1649492;1763543;2151363;2187184 115YB6;D2S2884;RH70389;SHGC-147245 DKFZp686G13268;RBSK 5230400M11Rik;OTTHUMP00000123511;ribokinase APPROVED protein-coding 30325 15222 611132 REVIEWED 7245107 RBFADN RBFA downstream neighbor (non-protein coding) 12477932;15146197;8619474;8889548;9110174 100506070 ABBA01013902;AC090360;AF070628;AMYH01009137;BC016878;BM932115;BX537710;CN288269;NR_103445;XR_110163;XR_111807;XR_172259 Hs.593610;Hs.744581 5020946;5022578;5022651;5024761;5037552;5118576;7185938 D10S16;D11S2921;D11S3430;D1S1423;D8S2279;L17971;RH36905 miscrna ENSG00000261126 48591 VALIDATED 731853 RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008] 20 20 p13 336709 359610 + 388709 411610 + 6480464 19277210;18711448;18303026;17822790;17449468;16643902;16083853;15951569;15833741;15489334;14759258;12629548;12477932;11780052;10431818;17682061;22607974;17006537;19136968;19796170;20103625;19549727;20098747;20956555;21832049;23104095;23088713;23105109;23160820;20005846;17121852;22430200;18781797;21292167;21903422;21987572;22139374;19953087;21139048;21890473;21906983;22605335;17069764;22517668;21811235;21963094;22053931;23000965;22493164;21709223;22505724;23032186;23032187;23042805;23524849 10616 A6PVJ5;A6PVJ6;A6PVJ7;A6PVK0;B4DML5;G3XAG9;H0Y4S7;Q5JWR1;Q9BYM8 AB107766;ABBA01053748;ABBA01053749;AK297524;AK309414;AL121747;AMYH01011653;AMYH01011654;BC000983;BC014116;BC015219;BC016301;CH471133;NG_033233;NM_006462;NM_031229;U67322 AAD00162;AAH15219;BAC75409;BAG59927;EAX10673;EAX10675;NP_006453;NP_112506;Q9BYM8 Hs.247280 1647725;1673508;1689516;2184929;2186635 RH17493;RH48717;RH94121;SHGC-34689;STS-T99066 C20orf18;HOIL-1;HOIL1;RBCK2;RNF54;UBCE7IP3;XAP3;XAP4;ZRANB4 HBV associated factor 4;HBV-associated factor 4;OTTHUMP00000029921;OTTHUMP00000029922;OTTHUMP00000196664;OTTHUMP00000196665;RBCC protein interacting with PKC1;RING finger protein 54;heme-oxidized IRP2 ubiquitin ligase 1;hepatitis B virus X-associated protein 4;protein kinase c-binding protein beta15;ranBP-type and C3HC4-type zinc finger-containing protein 1;ubiquitin conjugating enzyme 7 interacting protein 3;ubiquitin-conjugating enzyme 7-interacting protein 3 APPROVED protein-coding ENSG00000125826 15864 16643 610924 REVIEWED 1606794 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 16 16 p13.3 6009133 7702500 + 6069132 7763340 + 6480464 18951430;10814712;19508968;19414679;19308021;19043545;18978788;20889312;18846501;18794351;18573872;18519826;17503474;17101796;16713569;16537540;16362037;16260614;14702039;12477932;11471052;20600896;20724578;19546859;19567891;19688295;19875103;20153395;20379614;21441570;22184459;22001756;22589738;23286373;21890473;23350840;22730494;23251661;23396134;23474815 54715 B7Z1U7;F5H0M1;F8VR27;F8VRS4;F8VZG9;F8VZY7;H3BM62;I3L1D4;J3KNW3;Q59HD3;Q9NWB1 AB208826;ABBA01026823;ABBA01026824;ABBA01026825;ABBA01026826;ABBA01026827;ABBA01026828;ABBA01026829;ABBA01026830;ABBA01026831;ABBA01026832;ABBA01026833;ABBA01026834;ABBA01026835;ABBA01026836;ABBA01026837;ABBA01026838;ABBA01026839;ABBA01026840;ABBA01026841;ABBA01026842;ABBA01026843;ABBA01026844;ABBA01026845;ABBA01026846;ABBA01026847;ABBA01026848;ABBA01026849;ABBA01026850;ABBA01026851;ABBA01026852;ABBA01026853;AC005774;AC006075;AC006112;AC007012;AC007217;AC007222;AC007223;AC009135;AC022206;AC023829;AC027683;AC079410;AC125796;AC131390;AF094849;AF107203;AF109106;AF109107;AF109120;AF229057;AF448859;AK001027;AK293951;AK299664;AL713700;AMYH01007118;AMYH01007119;AMYH01007120;AMYH01007121;AMYH01007122;AMYH01007123;AMYH01007124;AMYH01007125;AMYH01007126;AMYH01007127;AMYH01007128;BC026312;BC033885;BC113691;BC143816;CH471112;NG_011881;NM_001142333;NM_001142334;NM_018723;NM_145891;NM_145892;NM_145893 AAF78291;AAI13692;AAI43817;AAL71904;AAL83405;AAL83406;AAL83407;AAL83408;AAL83409;AAP41925;BAA91472;BAD92063;BAH11633;BAH13094;CAD28499;EAW85216;EAW85217;EAW85218;EAW85219;EAW85220;NP_001135805;NP_001135806;NP_061193;NP_665898;NP_665899;NP_665900;Q9NWB1 Hs.459842 1334525;1334656;1334777;1334936;1337634;1338252;1338729;1338749;1338912;1340052;1340095;1340857;1653137;1653446;1670820;1674662;1680156;1683195;1689424;1690492;1692008;1695418;1717617;1718385;1724891;1726557;1730231;1736572;1738523;1738701;1738797;1743355;1751201;1755885;1756189;1757455;1762979;1762981;1768397;1771813;1773884;1783412;1783424;1783452;1848970;1852055;1856663;2117074;2133790;2135210;2139428;2139974;2141873;2154962;2155901;2158529;2218164;5117198;7185159;7185488;7186329 A2BP1__4225;AFM225xd2;AFM288zf9;AFM339xg1;AL033655;D16S2564E;D16S2637;D16S2706;D16S2810;D16S2868;D16S2948;D16S3030;D16S3042;D16S3058;D16S3088;D16S3092;D16S3108;D16S3128;D16S3135;D16S3232;D16S3392;D16S418;D16S428E;D16S506;D16S509;D16S743;D21S1249;DXS9719;G29275;G62659;GDB:315385;GDB:451715;RH119210;RH122113;RH122966;RH65158;RH65272;RH79651;SHGC-105112;SHGC-142727;SHGC-143046;SHGC-144833;SHGC-146726;SHGC-146727;SHGC-155063;SHGC-155760;SHGC-2850;SHGC-2880;SHGC-60581;SHGC-60742;SHGC-61136;SHGC-68779;SHGC-83976;STS-R41560;STS-T53018;WI-21447;WI-21917;WI-3725 2BP1;A2BP1;FOX-1;FOX1;HRNBP1 OTTHUMP00000159949;OTTHUMP00000159950;OTTHUMP00000243973;OTTHUMP00000243974;OTTHUMP00000243975;OTTHUMP00000243976;OTTHUMP00000243977;OTTHUMP00000243980;OTTHUMP00000243981;OTTHUMP00000243985;RNA binding protein fox-1 homolog 1;ataxin 2-binding protein 1;ataxin-2-binding protein 1;fox-1 homolog A;hexaribonucleotide binding protein 1;hexaribonucleotide-binding protein 1 APPROVED protein-coding ENSG00000078328 18222 16091 605104 REVIEWED 5688604 RBM11P1 RNA binding motif protein 11 pseudogene 1 6 133085799 133086596 + 100420213 ABBA01025876;AL032821;AMYH01016676;NG_025978 pseudo 43743 INFERRED 1603898 RBFOX3 RNA binding protein, fox-1 homolog (C. elegans) 3 17 17 17 q25.3 73683652 74076296 - 74743415 74931797 - 77085427 77303909 - 6480464 16260614;14702039;12477932;11181995;8889548;19713214;20379614 146713 A6NFN3;B4DF29;J3QQZ2;J3QRF4;K7EJX6;K7EQK7;K7ESF7 ABBA01002895;ABBA01002896;ABBA01002897;ABBA01002898;ABBA01002899;ABBA01002900;ABBA01002901;AC020689;AC021534;AC055858;AC073624;AK054893;AK124644;AK128131;AK293617;AK293905;AMYH01008680;AMYH01008681;BC093713;BM714144;BU741507;BX452143;CH471099;DN990270;NM_001082575 A6NFN3;AAH93713;BAG57077;BAG57290;EAW89563;EAW89564;NP_001076044 Hs.135229 1335364;1340599;1719455;1722899;1723557;1757003;1762513;1763333;1763629;1763783;1764917;1765453;1765679;1786716;5015619;5016478;5109281;7184453 D11S3114;D17S1806;D17S836;D1S1425;G60544;GDB:434012;RH118599;RH123446;SHGC-144359;SHGC-146329;SHGC-147058;SHGC-147321;SHGC-147456;SHGC-148476;SHGC-148938;SHGC-149119;SHGC-154861 FLJ56884;FLJ58356;FOX-3;FOX3;HRNBP3;NEUN OTTHUMP00000196558;RNA binding protein fox-1 homolog 3;fox-1 homolog C;hexaribonucleotide binding protein 3;hypothetical protein loc146713;neuronal nuclei APPROVED protein-coding ENSG00000167281 27097 18730 VALIDATED 1323505 RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2 This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q13.1 34464729 34754531 - 36134783 36424585 - 1580863;6480464 11875103;19136955;18794351;18573884;18573872;17715393;16713569;16537540;16344560;16260614;16189514;15489334;15461802;14702039;12529303;12477932;11401487;10591208;21145461;22666429;18029348;20131247;20936779;20211142;21747913;23149937;17289029;22083953;21139048;21876675;21890473;19322201 23543 B0QYV1;B0QYY4;B0QYY6;B0QYY7;Q6IC09 AB649123;ABBA01055426;ABBA01055427;AF229058;AK055213;AK057055;AK091398;AK091695;AK130730;AK291460;AK314632;AL009266;AL049748;AL079295;AL832604;AM419009;AMYH01012747;AY072786;AY960684;BC013115;BC025281;CH471095;CR456559;DA493176;DB461443;DQ778625;NG_029628;NM_001031695;NM_001082576;NM_001082577;NM_001082578;NM_001082579;NM_014309;Z82217;Z95114 AAH13115;AAH25281;AAL67150;AAL71905;AAX84843;ABG77459;ABM82646;ABM85823;ABM85824;BAB70875;BAF84149;BAK53481;CAA15842;CAG30445;CAK54590;CAK54889;CAL91352;EAW60072;EAW60073;EAW60074;EAW60075;EAW60076;EAW60077;EAW60078;EAW60079;NP_001026865;NP_001076045;NP_001076046;NP_001076047;NP_001076048;NP_055124;O43251 Hs.282998 1331587;1335562;1342048;1657857;1667709;1667899;1669956;1675041;1676996;1681227;1689664;1712557;1712755;1730329;1750927;1751627;1753645;1759445;1760315;1772107;2117373;2123860;2129561;2135336;2143388;2146572;2170147;5127933;7190897;7190903 AFMA223VA9;AL008667;AL008671;AL021651;AL022553;D22S1142;D22S1235;D22S1677;D22S277;D22S278;D22S291E;D22S587;D22S971E;HSC2LB072;R75115;RH11177;RH120091;RH17461;RH66280;RH68656;RH99037;SHGC-104667;SHGC-105601;SHGC-107554;SHGC-151199;SHGC-152339;SHGC-170363;WI-21978 FOX2;Fox-2;HNRBP2;HRNBP2;RBM9;RTA;dJ106I20.3;fxh OTTHUMP00000197876;OTTHUMP00000197899;OTTHUMP00000198113;OTTHUMP00000198114;OTTHUMP00000198115;OTTHUMP00000220206;OTTHUMP00000220207;OTTHUMP00000220208;RNA binding motif protein 9;RNA binding protein fox-1 homolog 2;RNA-binding motif protein 9;RNA-binding protein 9;fox-1 homolog B;fox-1 homologue;hexaribonucleotide binding protein 2;hexaribonucleotide-binding protein 2;repressor of tamoxifen transcriptional activity APPROVED protein-coding ENSG00000100320 9906 15231 612149 REVIEWED 1602216 RBM12B-AS1 RBM12B antisense RNA 1 8 8 8 q22.1 90938400 90939108 + 94820534 94822735 + 94752339 94753047 + 6480464 55472 Q9P1G2 ABBA01037438;AC010834;AF116672;AMYH01018883;NR_027259 AAF71092;Q9P1G2 Hs.192788 1700122;2180220 G31112;RH103674 C8orf39;PRO1905 APPROVED miscrna ENSG00000212998 28818 VALIDATED 733260 RBL2 retinoblastoma-like 2 (p130) 16 16 q12.2 52025901 52083061 + 53468351 53525560 + 1580863;6480464;6907045 16286473;18676747;18446820;18418057;18321970;18086563;17905135;17694957;17531812;17485552;16936755;16936753;16760287;16600870;16537896;16458891;16364039;16344560;16135806;15949438;15939381;15827088;15467457;15231644;15161709;15131049;15059924;14671316;14587097;14534545;13679860;12968030;12915404;12789260;12789259;12637156;12621062;12588981;12477932;12474056;12466551;12450794;12435635;12386819;12196924;12006580;11959842;11756542;15696973;11642725;11573202;11319226;11157749;11042701;11042686;11034201;10969803;10449734;10376528;10330166;10022926;9819434;9747874;9724731;9721205;9710587;9697699;9566894;9242374;9188854;9178770;8643454;8361765;8253384;8253383;8247552;7760804;15103018;9891079;10490602;11521194;15861133;15479636;15577944;11799066;10766737;15271987;7892279;15735762;11571651;15750587;17159899;19074885;19252413;19279001;19453261;19597825;19648966;19668264;19694314;19738611;20009087;20071580;20189212;20406986;9464541;18029348;20211142;20800603;21127431;21325284;21516817;12717421;15077161;16397580;16776654;9858615;21411531;21813705;21511729;21890473;21903422;19322201;17671431;12096339;19725879;22094256;23370776;9472014;12434308;12549820;22595804;17620057 5934 B7Z913;F5H837;J3KSF7;Q08999;Q8NE70 ABBA01066495;AC007342;AK129969;AK300047;AK304283;AK307881;AMYH01007675;BC034490;BX537767;CH471092;DB017942;NM_005611;S67171;U53220;X74594;X76061 AAB29227;AAC50479;AAH34490;BAG61857;BAH14149;CAA52671;CAA53661;CAD97830;EAW82801;EAW82802;NP_005602;Q08999 Hs.513609 1648099;1677222;1775104;1796666;2129224;2164167;2167151;2173690 D16S2536E;G19455;RBL2_1295;RH65767;RH66716;RH68342;RH75186;SHGC-60585 FLJ26459;P130;Rb2 130 kDa retinoblastoma-associated protein;OTTHUMP00000164255;PRB2;RBR-2;retinoblastoma-like 2;retinoblastoma-like protein 2;retinoblastoma-related protein 2 protein-coding ENSG00000103479 9894 01576 180203 VALIDATED 5013860 RBM14-RBM4 RBM14-RBM4 readthrough This locus represents naturally occurring read-through transcription between the neighboring RBM14 (RNA binding motif protein 14) and RBM4 (RNA binding motif protein 4) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This fusion protein contains RRM and zinc finger domains, and it functions to stimulate transcription in a hormone and receptor-dependent manner. [provided by RefSeq, Nov 2010] 11 q 66384053 66413944 + 11181995;19416963;20967262;21963094;22505724 100526737 F2Z2W2;Q96PK5 ABBA01024069;ABBA01024070;AMYH01003735;AP001157;AW958943;CH471076;NM_001198845;NM_001198846 EAW74554;NP_001185774;NP_001185775 Hs.523822;Hs.533712 1668668;1668670;1856078 HSCZXF072;RH41917;WI-18671 COAZ;FLJ78260 OTTHUMP00000219042;OTTHUMP00000219048;OTTHUMP00000235631;RBM14-RBM4 protein;RBM14/RBM4 fusion;transcriptional coactivator CoAZ APPROVED protein-coding ENSG00000173933;ENSG00000248643 38840 VALIDATED 1313374 RBL1 retinoblastoma-like 1 (p107) The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q11.2 35059592 35157824 - 35626178 35724410 - 1580863;6480464;6907045 16360038;16286473;19453261;18799622;18418057;18086563;17563750;16943418;16537896;16189514;16135806;15939381;15827088;15631990;15489334;15467457;14671316;14666683;12947099;12621062;12588981;12477932;12466551;12450794;12439743;12150994;12096339;12006580;11884610;11780052;11642725;11573202;11571651;11313936;11034201;10863094;10540350;10376528;10330166;10082561;10022926;9927208;9747874;9724731;9721205;9710587;9697699;9566894;9501179;9372959;9242374;8643455;8622916;8319904;8230483;8076603;7958925;7958924;7935440;7892279;7791762;7565695;1833063;1532458;9891079;7739537;10490602;7760804;11521194;15716956;15479636;10766737;11799066;8816797;15735762;20663872;16620772;14555653;15750587;17255935;19279001;19738611;20379614;20453000;8798463;9464541;16712791;9858615;22673945;8657117;17620012;16600870;9724724;17531812;21139048;21900206;21903422;22157815;22303805;17671431;21988832;22094256;23455922;8832394;9472014;12434308;12549820 5933 E9PNB6;H0YE05;P28749 ABBA01006605;ABBA01006606;ABBA01006607;ABBA01006608;ABBA01006609;ABBA01006610;ABBA01006611;AK290380;AK308096;AK310870;AL136172;AL365505;AL391114;AMYH01011889;AMYH01011890;AMYH01011891;AMYH01011892;AMYH01011893;BC032247;BQ004524;CB115117;CH471077;L14812;M74547;NM_002895;NM_183404;S78664 AAA02489;AAA36397;AAD14290;AAH32247;ABM84709;ABM92229;BAF83069;EAW76088;EAW76089;NP_002886;NP_899662;P28749 Hs.207745 1658254;1662552;1781142;1791802;1792514;1852257;2147407;2217902;5022322;5123833 D11S2560;D20S823;G15936;PMC126057P1;PMC152552P1;RBL1_3855;RH17622;SGC35236;STS-H85528;stdJ621N11SP6 CP107;MGC40006;PRB1;p107 107 kDa retinoblastoma-associated protein;OTTHUMP00000030892;OTTHUMP00000030893;cellular protein 107;retinoblastoma-like protein 1 APPROVED protein-coding ENSG00000080839 9893 00312 116957 REVIEWED 732878 RBM10 RNA binding motif protein 10 This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011] X X p11.23 46889575 46931156 + 47004617 47046214 + 1580863;6480464;7240710 18669648;18820371;18315527;17081983;16713569;16552754;16381901;16189514;15489336;15302935;14702039;14559993;12477932;11944989;11230166;11076863;8808293;8760884;8590280;8125298;16169070;21145461;14293686;5410571;11256614;20451169;18029348;17707232;16344560;23022380;20462248;23084401;23184937;20516061;22113938;22365833;22751105;19471022;21139048;21693764;17332742;17620599;18271526 8241 P98175;Q7Z3D7 ABBA01052303;ABBA01052304;ABBA01052305;ABBA01052306;ABBA01052307;ABBA01052308;ABBA01052309;ABBA01052310;ABBA01052311;AK000962;AK024839;AK025854;AK098115;AK225175;AK292758;AL137421;AL513366;AMYH01022258;AMYH01022259;AW248804;BC000681;BC003089;BC004181;BC008733;BC024153;BX537969;CH471164;D50912;DB183041;NG_012548;NM_001204466;NM_001204467;NM_001204468;NM_005676;NM_152856;U35373 AAB33572;AAH00681;AAH03089;AAH04181;AAH08733;AAH24153;BAA09471;BAF85447;CAB70731;CAD97933;CAL37951;EAW59283;EAW59284;EAW59285;EAW59286;EAW59287;NP_001191395;NP_001191396;NP_001191397;NP_005667;NP_690595;P98175 Hs.401509 1702216;1728951;1847317;1856389;5021292 AFM206zf2;D10Bir5;DXS7015E;G26316;sWXD3383 DXS8237E;FLJ40796;GPATC9;GPATCH9;KIAA0122;MGC1132;MGC997;S1-1;TARPS;ZRANB5 OTTHUMP00000023191;OTTHUMP00000023192;RNA-binding motif protein 10;RNA-binding protein 10;RNA-binding protein S1-1;S1-1;g patch domain-containing protein 9 APPROVED protein-coding ENSG00000182872 9896 02095 300080;311900 REVIEWED 1313079 RBM11 RNA binding motif protein 11 21 21 21 q11 745717 757944 + 14510350 14522552 + 15588466 15600693 + 1580863 16713569;16189514;15489334;14702039;12477932;12036298;10830953;8889548;12909339;16712791 54033 P57052 ABBA01057083;AF130358;AF519623;AK091331;AMYH01012140;AP001660;AY077695;BC030196;BQ186146;CB153254;CH471079;NM_144770 AAH30196;AAL82535;AAM75350;BAA95545;BAC03638;EAX10060;EAX10061;EAX10062;EAX10063;NP_658983;P57052 Hs.283828 2109743 RBM11_9774 OTTHUMP00000082971;RNA-binding motif protein 11;putative RNA-binding protein 11;splicing regulator RBM11 protein-coding ENSG00000185272 9897 10185 VALIDATED 1602033 RBM12B RNA binding motif protein 12B 8 8 8 q22.1 90929789 90939285 - 94812904 94822400 - 94743728 94753224 - 6480464 21252943;17081983;15489334;12477932;22939629;21078624;19471022;21139048 389677 B9ZVT1;E5RHG1;E5RJ83;E5RJV8;E5RJW8;Q8IXT5 ABBA01037438;AC010834;AMYH01018883;BC039260;CH471060;NM_203390 EAW91699;NP_976324;Q8IXT5 Hs.606916 1680865;1700122;2128394;2150595;2180220;5015563 G31112;RH103674;RH65020;RH99186;SGC30869;SHGC-34309 MGC:33837 OTTHUMP00000226449;OTTHUMP00000226450;OTTHUMP00000229449;RNA-binding motif protein 12B;RNA-binding protein 12B protein-coding 32310 14213 VALIDATED 1343633 RBM12 RNA binding motif protein 12 This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010] 20 20 20 q11.21 30985171 31001132 - 33700291 33716252 - 34236847 34252878 - 1580863;6480464 16120600;18831769;17081983;15489334;15144186;14702039;12477932;12421765;12168954;11780052;11435693;9872452;9853615;16344560;22863883;22939629;16196087;22446626;21139048;21693764;21890473;18029348 10137 A6PVI0;A6PVI1;Q5JX62;Q9NTZ6 AA481034;AA825305;AB015336;AB018308;ABBA01019152;AF345332;AF345335;AF393214;AI086083;AI376995;AJ289772;AK026963;AK074945;AK092239;AK299371;AL109827;AL833222;AL834472;AMYH01011875;BC012787;BC013981;CD109659;CH471077;DA319853;DB060608;NM_001198838;NM_001198840;NM_006047;NM_152838 AAH12787;AAH13981;AAL83752;AAL83755;AAM73682;ABM84419;ABM87436;BAA34485;BAA34794;BAG52036;BAG52504;BAG61361;CAC20441;CAD39131;CAH10603;CAI20134;EAW76182;EAW76184;EAW76188;NP_001185767;NP_001185769;NP_006038;NP_690051;Q9NTZ6 Hs.700188 1653389;1754105;1760243;1772220;1801110;1801228;1801690;1801806;1802280;1802940;1803586;1803864;1804670;1805762;1806228;1807260;1807726;1808078;1813860;1832550;1836800;1975394;1975396;1975398;1975400;1975402;1975404;1975406;1975408;1975410;1975412;1975414;1975416;1975418;1975420;1975422;1975424;1975426;1975428;1975430;1975432;1975434;1975436;1975438;1975440;1975442;1975444;1975446;1975448;1975450;1975452;1975454;1975456;1975458;1975460;1975462;1975464;1975466;1975468;1975470;1975472;1975474;1975476;1975478;1975480;1975482;1975484;1975486;1975488;1975490;1975492;1975494;1975496;1975498;1975500;1975502;1975504;1975506;1975508;1975510;1975512;1975514;1975516;1975518;1975520;1975522;1975524;1975526;1975528;1975530;1975532;1975534;1975536;1975538;1975540;1975542;1975544;1975546;1975548;2124933;2158452;2172311;2215544;2215546;2215548;2215550;2215552;2215554;2215556;2215558;2215560;2215562;2215564;2215566;2215568;2215570;2215572 A002R21;D20S1111;ECD01424;ECD01486;ECD01724;ECD01784;ECD02024;ECD02360;ECD02695;ECD02844;ECD03267;ECD03832;ECD04069;ECD04598;ECD04836;ECD05017;ECD07956;ECD17415;ECD19564;REN58583;REN58584;REN58585;REN58586;REN58587;REN58588;REN58589;REN58590;REN58591;REN58592;REN58593;REN58594;REN58595;REN58596;REN58597;REN58598;REN58599;REN58600;REN58601;REN58602;REN58603;REN58604;REN58605;REN58606;REN58607;REN58608;REN58609;REN58610;REN58611;REN58612;REN58613;REN58614;REN58615;REN58616;REN58617;REN58618;REN58619;REN58620;REN58621;REN58622;REN58623;REN58624;REN58625;REN58626;REN58627;REN58628;REN58629;REN58630;REN58631;REN58632;REN58633;REN58634;REN58635;REN58636;REN58637;REN58638;REN58639;REN58640;REN58641;REN58642;REN58643;REN58644;REN58645;REN58646;REN58647;REN58648;REN58649;REN58650;REN58651;REN58652;REN58653;REN58654;REN58655;REN58656;REN58657;REN58658;REN58659;REN58660;RH66098;SHGC-132138;SHGC-132544;SHGC-35711;WI-14831;stSG636767;stSG636768;stSG636769;stSG636770;stSG636771;stSG636772;stSG636773;stSG636774;stSG636775;stSG636776;stSG636777;stSG636778;stSG636779;stSG636780;stSG636781 HRIHFB2091;KIAA0765;SWAN OTTHUMP00000030766;OTTHUMP00000062717;OTTHUMP00000062718;OTTHUMP00000062719;OTTHUMP00000196685;OTTHUMP00000196686;RNA-binding motif protein 12;RNA-binding protein 12;SH3/WW domain anchor protein in the nucleus APPROVED protein-coding ENSG00000244462 9898 06212 607179 REVIEWED 1316618 RBM20 RNA binding motif protein 20 This gene encodes a protein that likely binds RNA. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Mar 2010] 10 10 10 q25.2 106135726 106330820 + 112394203 112589217 + 112404155 112599227 + 6480464;7240710 20590677;19712804;19712805;20379614;22466703;20301486;22004663 282996 Q5T481 ABBA01063020;ABBA01063021;ABBA01063022;ABBA01063023;AK302802;AL136368;AL359260;AL512508;AL832084;AMYH01003063;AMYH01003064;BX648563;EU822950;NG_021177;NM_001134363 ACF49364;BAG64004;NP_001127835;Q5T481 Hs.116630 1661889;1704484;1706868;1761655;1763623;2141395;2143452;2219610 RBM20__5654;SHGC-145640;SHGC-147317;SHGC-54184;SHGC-80917;SHGC-82989;WI-10472;WI-11215 OTTHUMP00000020478;RNA-binding motif protein 20;RNA-binding protein 20;probable RNA-binding protein 20 APPROVED protein-coding ENSG00000203867 27424 613171;613172 REVIEWED 1350628 RBM15B RNA binding motif protein 15B Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009] 3 3 3 p21.2 51403085 51409693 + 51403771 51410379 + 51428699 51435339 + 737633;1580863;6480464 12477932 17081983;16129689;15489334;15302935;8401585;19586903;8889548;19336002;21106733;20811636;22939629;18029348;19596686;16009940 29890 Q0VA89;Q8NDT2 AA369886;ABBA01024531;AC092037;AL831838;AMYH01013178;AY545557;BC001367;BC121184;BC139836;BG674080;BI465048;BM980577;CH471055;L13434;NM_013286 AAA72367;AAH01367;AAI21185;AAI39837;AAS50153;ACE86660;ACE87343;CAD38547;EAW65139;NP_037418;Q8NDT2 Hs.118738;Hs.716623;Hs.731737 1671622;1675214;1691138;1778665;1850926;2109415;2112752;2178725;5037674;5091699 D3S2871E;D3S3909;D3S3947;D3S4362;D3S4443;HUMAGCGB_9597;RH41778;RH93354;SHGC-57673;STS-L13434 HUMAGCGB;OTT3 OTTHUMP00000210953;RNA-binding motif protein 15B;chromosome 3p21.1 gene sequence;huOTT3;one twenty two protein 3;one-twenty two protein 3;putative RNA-binding protein 15B APPROVED protein-coding ENSG00000179837 24303 11486 612602 VALIDATED 1349605 RBM22P1 RNA binding motif protein 22 pseudogene 1 18 18 18 q11.2-q12.1 21809253 21810805 - 23170341 23429126 - 24998848 25000400 - 23251661 400645 ABBA01022560;AC068408;AMYH01008906;NG_023396 FLJ45994 pseudo 31466 INFERRED 1322546 RBM17 RNA binding motif protein 17 This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009] 10 10 10 p15.1 6060328 6088794 + 6171013 6198849 + 6130949 6159422 + 737633;1580863;6480464;6907045 12477932 18337722;17676041;17589525;17081983;16189514;16061639;15489334;15146197;14578179;12086596;12015979;9731529;12234937;21145461;21319273;22615491;16385451;17577209;17207965;20410501;16055720;19454010;22990118;23184937;20360068;21835928;18029348;17332742;19471022;21139048;19322201;21628590;22190034 84991 H0Y6J6;Q5W009;Q5W010;Q5W011;Q5W012;Q96I25 AA905075;ABBA01034769;AF542550;AK314952;AL157395;AMYH01002002;BC007871;BC009064;BC039322;BX648288;CH471072;CN291330;CV570433;NM_001145547;NM_032905 AAH07871;AAH09064;AAH39322;AAQ09533;ADQ32701;BAG37457;EAW86405;EAW86406;EAW86407;EAW86408;EAW86409;EAW86410;EAW86411;NP_001139019;NP_116294;Q96I25 Hs.498548 1718083;1739123;1857631;2139501;2178666;2179174;2179176;5092988;5113183 A009D35;D10S1520;G32453;RH11159;RH122660;RH80691;STS-H58939;STS-R99346;WI-20510 DKFZp686F13131;MGC14439;SPF45 45 kDa-splicing factor;OTTHUMP00000019034;RNA-binding motif protein 17;splicing factor 45;splicing factor 45kDa APPROVED protein-coding ENSG00000134453 16944 09501 606935 REVIEWED 5129383 RBM22P2 RNA binding motif protein 22 pseudogene 2 13 13 q12 12182767 12184054 - 31113434 31114721 - 100271871 ABBA01035694;AL353648;AMYH01005010;NG_011578 pseudo 39695 INFERRED 5129389 RBM22P11 RNA binding motif protein 22 pseudogene 11 X X X p11.22 56552283 56553207 - 52572708 52573726 + 52555922 52556846 + 100132115 ABBA01048022;AL772246;BX510359;NG_011615 pseudo 39704 INFERRED 5129388 RBM22P10 RNA binding motif protein 22 pseudogene 10 X X X p11.22 56552277 56553207 - 52286842 52287860 + 52270056 52270986 + 100132222 BX088602;NG_011580 pseudo 39703 INFERRED 5129385 RBM22P5 RNA binding motif protein 22 pseudogene 5 9 9 9 q21.13 49477855 49480137 - 78091230 78092817 - 78900784 78903066 - 100133206 ABBA01033905;AL589653;AMYH01021423;NG_011576;NG_029445 pseudo 39698 INFERRED 5129384 RBM22P4 RNA binding motif protein 22 pseudogene 4 6 6 p21 46618422 46619812 + 45065696 45067086 + 100271870 ABBA01050634;AL138880;AMYH01016324;NG_011575 pseudo 39697 INFERRED 5129357 RBM22P3 RNA binding motif protein 22 pseudogene 3 7 7 7 p11.2 67664754 67665784 + 56518310 56527523 + 56558300 56559330 + 9847074 100128867 ABBA01061872;AC092447;AMYH01017285;NG_009406 pseudo 39696 INFERRED 5129404 RBM22P6 RNA binding motif protein 22 pseudogene 6 X X X p11.22 56552277 56553207 - 52244764 52245782 - 52228188 52229118 - 644509 BX088602;BX510359;NG_011579 2177352 L78112 pseudo 39699 INFERRED 5129387 RBM22P8 RNA binding motif protein 22 pseudogene 8 X X X p11.22 56552283 56553207 - 52517704 52518722 - 52501134 52502058 - 100132407 AL772246;NG_011614 pseudo 39701 INFERRED 1343999 RBM15 RNA binding motif protein 15 Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009] 1 1 1 p13 109129118 109136476 + 110683468 110690826 + 110881945 110889303 + 1580863;6480464 16129689;18667423;17081983;17001072;16964243;16710414;15849773;15489334;15302935;14702039;12477932;11431691;11344311;21370421;18710951;19615732;18029348;21106733;22939629;22927943;19471022;21139048;19322201;21628590;19596686;21900206;22586326;21252943;15998806;19586903;22497198;22174317 64783 Q86VW9;Q96SD0 AB209680;ABBA01068390;AF368062;AF368063;AF368064;AI863760;AJ297259;AK022541;AK025596;AL355488;AMYH01000943;AW173262;BC000841;BC006397;BC010891;BC042587;BC047479;BC062316;BC098140;BC103493;BC103507;BC103660;BK005915;CH471122;NM_001201545;NM_022768 AAH06397;AAH47479;AAH62316;AAH98140;AAI03494;AAI03508;AAK54722;AAK54723;AAK54724;BAB14088;BAB15185;BAD92917;CAC38861;CAC38862;DAA05818;EAW56438;EAW56439;EAW56440;NP_001188474;NP_073605;Q96T37 Hs.435947;Hs.708172 1697650;1700320 RH102340;RH103780 FLJ12479;FLJ21943;MGC119584;OTT;OTT1;SPEN OTTHUMP00000013007;RNA-binding motif protein 15;one twenty two protein;one twenty-two;one-twenty two protein 1;putative RNA-binding protein 15 APPROVED protein-coding ENSG00000162775 14959 05832 606077 VALIDATED 1316593 RBM18 RNA binding motif protein 18 9 9 9 q33.2 95650145 95675469 - 124043604 124066911 - 125001834 125027143 - 737633;1580863;6480464 12477932 17567985;16344560;15489334;15164053;14702039;8889548;20379614;21988832 92400 Q96H35 ABBA01043710;AK026870;AK057676;AK299625;AK301050;AK310008;AK310807;AL162424;AL389986;AMYH01021694;BC008942;BC019319;BP870502;CA314508;CH471090;DA308339;NM_033117;NR_027125;NR_027126 AAH08942;AAH19319;BAG51951;BAG61553;BAG62661;EAW87518;EAW87519;NP_149108;Q96H35 Hs.415842 1682970;2116146;2131601;2150296;2150725 D9S2100;NIB43;RH66041;RH66719;WI-14875 MGC2734 OTTHUMP00000022049;RNA-binding motif protein 18;probable RNA-binding protein 18 protein-coding 28413 15224 VALIDATED 1321805 RBM14 RNA binding motif protein 14 This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 q13.2 66140673 66151390 + 66384053 66397405 + 6480464 11443112;18029348;18829545;17337438;17081983;16964243;16878147;16713569;16565220;16344560;16227627;15489334;15302935;15144186;14702039;14673176;12477932;11790298;9285794;8125298;21145461;15919756;19416963;19585539;19454010;20211142;22939629;21182205;20508642;20811636;21252943;21736557;19596686;21081666;21987572;22178446;19322201;21628590;21139048;21906983;21926972;22446626;22268729;22505724;22797925 10432 B8ZZ74;F8WDX3;Q96PK5 AB209007;ABBA01024070;AF080561;AF315632;AF315633;AK021768;AK222830;AMYH01003735;AP001157;BC000488;BC007641;BC023619;BC024260;CH471076;CR749306;DB044990;DQ294957;NG_030394;NM_001198836;NM_001198837;NM_006328 AAC64058;AAH00488;AAH07641;AAH24260;AAK77961;AAK77962;ABB99396;ABZ92033;BAD92244;BAD96550;BAG51046;CAH18161;EAW74552;EAW74553;NP_001185765;NP_001185766;NP_006319;Q96PK6 Hs.533712 1673172;2123221;2141295;2178043;5015404;5020948;5022588 A008Z47;D13S1667;D5S1597E;G35510;L17705;RH47022;SHGC-33744 COAA;DKFZp779J0927;MGC15912;MGC31756;PSP2;SIP;SYTIP1;TMEM137 OTTHUMP00000179145;OTTHUMP00000205221;OTTHUMP00000235629;RNA-binding motif protein 14;RNA-binding protein 14;RRM-containing coactivator activator/modulator;SYT interacting protein;SYT-interacting protein;coactivator activator;paraspeckle protein 2;synaptotagmin-interacting protein;transmembrane protein 137 APPROVED protein-coding 14219 11485 612409 REVIEWED 1314003 RBM22 RNA binding motif protein 22 This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009] 5 5 5 q33.1 146151706 146162023 - 150050549 150060817 - 150070352 150080669 - 737633;1580863;6480464;6907045 12477932 17045351;18029348;21145461;19133299;16381901;16344560;15616564;15489336;15489334;14702039;12477934;11991638;11256614;11230166;11076863;8681136;18482256;20013661;22990118;23084401;21139048;21890473;21906983;22246180;21628590;22053931 55696 E5RHA8;E5RJW4;F5GWK3;Q9NW64 ABBA01026273;AC008453;AK001152;AK096728;AK297019;AL136933;AMYH01015710;BC003402;CH471062;DA534416;N23415;NM_018047 AAH03402;BAA91521;BAG59551;CAB66867;CAL38515;EAW61710;EAW61711;EAW61712;NP_060517;Q9NW64 Hs.713564 1690111;1740497;1768317;1780976;2126865;2148770;2157864;2163160 D5S2290E;RH45077;RH71418;RH91318;SGC33434;SHGC-37649;STS-AA039284;bac5560T Cwc2;FLJ10290;ZC3H16;fSAP47 OTTHUMP00000224409;OTTHUMP00000224410;RNA-binding motif protein 22;functional spliceosome-associated protein 47;pre-mRNA-splicing factor RBM22;zinc finger CCCH domain-containing protein 16 APPROVED protein-coding ENSG00000086589 25503 10186 612430 REVIEWED 1318980 RBM19 RNA binding motif protein 19 This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009] 12 12 12 q24.21 113881321 114031187 - 112744245 112888499 - 114254543 114404176 - 1580863;6480464 19240061;18519826;17081983;16344560;16027046;15635413;15489334;15231748;12874115;12477932;12429849;11790298;11230166;9734811;20379614;22939629;18029348;22379092;19471022;21139048 9904 A8K5X9;H0YIL2;Q9Y4C8 AA594568;AB014582;ABBA01019966;ABBA01019967;ABBA01019968;AC009731;AC073863;AC090669;AI218902;AK291444;AK314606;AL117547;AMYH01004764;AMYH01004765;BC004289;BC006137;CH471054;DB096676;NM_001146698;NM_001146699;NM_016196 AAH04289;AAH06137;ACE86464;ACE87145;BAA31657;BAF84133;BAG37176;CAB55987;EAW98062;EAW98063;NP_001140170;NP_001140171;NP_057280;Q9Y4C8 Hs.7482 1699224;1709642;1712402;1712504;2139838;2148442;2184428 G54202;G54228;RH103193;SHGC-85184;STS-AA007571;STS-D29101;STS-T25505 DKFZp586F1023;KIAA0682 OTTHUMP00000241779;OTTHUMP00000241780;OTTHUMP00000241781;RNA-binding motif protein 19;probable RNA-binding protein 19 APPROVED protein-coding ENSG00000122965 29098 15225 REVIEWED 1318710 RBM25 RNA binding motif protein 25 14 14 14 q24.3 53588522 53651356 + 72595021 72657745 + 73525221 73588076 + 1302519;1580863;6480464;6907045 7596406 18663000;17560998;17081983;16964243;15561718;15302935;14702039;12508121;12477932;9847074;8227983;17353931;17361185;19322201;21628590;18029348;16159877;22990118;22939629;21859973;19471022;21139048;21555454;21693764;16051665;17370265;21081666;22586326;23190262 58517 E9PQU5;E9PSE8;H0YE46;Q9UEQ5 ABBA01030768;ABBA01030769;AC004858;AF109907;AK026107;AK094697;AK125513;AL442663;AL832314;AL833497;AMYH01005841;BC033664;BC062440;BC083496;BC111066;BC113389;BC113391;BC136775;BC136776;BC144407;BX647116;CH471061;L40392;NM_021239;S67071 AAB28817;AAC41999;AAC97961;AAF19255;AAH62440;AAH83496;AAI11067;AAI13390;AAI13392;AAI36776;AAI36777;AAI44408;BAB15362;BAG52915;EAW81086;EAW81087;EAW81088;EAW81089;EAW81090;NP_067062;P49756 Hs.531106 1338651;1648854;1660143;1674309;1683080;1690768;1722689;1740695;1773407;1777769;1779946;1857877;2112142;2116820;2134207;2173477;2174998;2177915;2180067 A007D07;D14S1274;D14S1365;D14S77;G35872;G38130;G38145;G38164;G38180;G38197;G38202;G38224;G60429;RH47401;RH70188;RH91841;RH91914;SGC31601;SHGC-154192 MGC105088;MGC117168;NET52;RED120;RNPC7;S164;Snu71;fSAP94 Arg/Glu/Asp-rich protein, 120 kDa;OTTHUMP00000236132;OTTHUMP00000236134;RNA-binding motif protein 25;RNA-binding protein 25;RNA-binding region (RNP1, RRM) containing 7;RNA-binding region-containing protein 7;U1 small nuclear ribonucleoprotein 1SNRP homolog;arg/Glu/Asp-rich protein of 120 kDa;functional spliceosome-associated protein 94 protein-coding ENSG00000119707 23244 15229 612427 VALIDATED 5130448 RBM26-AS1 RBM26 antisense RNA 1 13 13 60881746 60899657 + 79980444 79998471 + 12477932;14702039 100505538 ABBA01021689;ABBA01021690;AK002196;AL139006;AMYH01005227;BC034812;NR_038991 Hs.600720 1767212;5037552 D8S2279;RH48610 APPROVED miscrna 39805 VALIDATED 1352302 RBM23 RNA binding motif protein 23 This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 3232750 3251295 - 22439694 22458236 - 23369854 23388396 - 1580863;6480464 18029348;17081983;16169070;15694343;15498874;15489334;14702039;12508121;12477932;8125298;17207965;16159877;12938929;21139048;21555454;21890473;23383273;22505724 55147 G3V225;G3V2B4;G3V2B6;G3V2H9;G3V3S8;G3V3V3;G3V546;G3V5J5;G3V5V1;G3V5W6;G3V5Y2;G3V5Z6;G3XAP0;H0YJJ3;H0YJN4;Q86U06 ABBA01061290;ABBA01061291;AF087905;AF275678;AK001344;AK125593;AK225792;AK295448;AK303668;AK308055;AK315620;AL132780;AL135998;AL834198;AMYH01005600;BC002566;BC024208;BC106012;BX161440;CH471078;CK000110;CK003276;CR457257;NM_001077351;NM_001077352;NM_018107 AAG24388;AAH02566;AAH24208;AAP97203;ADQ32417;BAA91638;BAG37988;BAG54220;BAH12071;BAH14010;CAD38887;CAD61910;CAG33538;EAW66222;EAW66223;EAW66224;EAW66225;EAW66226;EAW66227;EAW66228;EAW66229;EAW66230;NP_001070819;NP_001070820;NP_060577;Q86U06 Hs.4997 1648366;1671640;1719237;1767481;2119662;2119966;2132906;5015961 A002Q41;D14S1223;D15S1477;G21627;IB864;RH123339;RH78387;SHGC-32250 CAPERbeta;FLJ10482;MGC4458;PP239;RNPC4 OTTHUMP00000246102;OTTHUMP00000246103;OTTHUMP00000246104;OTTHUMP00000246106;RNA-binding motif protein 23;RNA-binding region (RNP1, RRM) containing 4;RNA-binding region-containing protein 4;probable RNA-binding protein 23;splicing factor SF2 APPROVED protein-coding ENSG00000100461 20155 15227 REVIEWED 1317276 RBM24 RNA binding motif protein 24 6 6 6 p22.3 18520103 18532397 + 17390911 17402052 + 17281809 17294102 + 6480464 16713569;15489334;15342556;14702039;14574404;12477932;19817877;21906983;22542470 221662 A8KAI7;H0Y8S7;H0YA61;Q9BX46 ABBA01022203;ABBA01022204;AK055391;AK095016;AK129865;AK293052;AK315856;AL136305;AL832199;AL833156;AMYH01016117;AY547318;BC018674;BC040928;BC065748;BC104808;BC104810;BP309176;CH471087;NM_001143941;NM_001143942;NM_153020 AAI04809;AAI04811;AAS55633;BAB70914;BAC04474;BAF85741;BAF98747;EAW55378;EAW55379;NP_001137413;NP_001137414;NP_694565;Q9BX46 Hs.519904 1855531;2152431;2219612 D6S1242E;RBM24__5655;STS-N39066 FLJ26355;FLJ30829;FLJ37697;RNPC6;dJ259A10.1 OTTHUMP00000016066;OTTHUMP00000016067;OTTHUMP00000221503;OTTHUMP00000221504;OTTHUMP00000221505;RNA-binding motif protein 24;RNA-binding protein 24;RNA-binding region (RNP1, RRM) containing 6;RNA-binding region-containing protein 6 protein-coding ENSG00000112183 21539 15228 VALIDATED 1317989 RBM26 RNA binding motif protein 26 13 13 13 q31.1 60793978 60881186 - 78792090 78877924 - 79894089 79979923 - 6480464 14702039;17081983;16964243;15741184;15489334;15057823;12477932;11149944;17577209;20379614;20562859;22939629;19389623;19471022;21139048;21693764;21890473;22446626;21853274 64062 E2PSN0;Q5W0G7 ABBA01021687;ABBA01021688;ABBA01021689;AF116667;AF273052;AK024610;AK027339;AK027456;AK302871;AK302927;AL139006;AL159974;AL834343;AMYH01005226;AMYH01005227;AX775885;BC000791;BC030806;BC041655;BC065024;BC111697;BC111739;BX648672;CH471093;NM_022118 AAF71087;AAG34912;AAH00791;AAH41655;AAI11698;AAI11740;BAB14933;BAB55046;BAB55125;BAG64052;BAG64089;CAD39009;CAE11642;CAI56708;EAW80591;EAW80592;EAW80593;EAW80594;NP_071401;Q5T8P6 Hs.558528 1706378;1767212;2120529;2154760;2217084;5491511 C13orf10_253;MARC_16477-16478:1019839220:1;RH48610;RH65102;RH65326;SHGC-80758 ARRS2;C13orf10;FLJ20957;MGC133295;MGC133296;PRO1777;RP11-255E21.1;SE70-2;ZC3H17 CTCL tumor antigen se70-2;OTTHUMP00000018538;OTTHUMP00000018539;RNA-binding motif protein 26;RNA-binding protein 26;acidic rich RS domain containing 2;chromosome 13 open reading frame 10;cutaneous T-cell lymphoma tumor antigen se70-2 protein-coding ENSG00000139746 20327 12611 VALIDATED 1323694 RBM27 RNA binding motif protein 27 5 5 5 q32 141663078 141748705 + 145563306 145649220 + 145583163 145668786 + 1580863;6480464 21139048;16964243;15741184;15489334;15372022;14702039;12477932;10718198;18655026;20379614;22939629;18029348;21890473;21853274 54439 Q05DK9;Q9P2N5 AB037732;ABBA01026340;ABBA01026341;AC011356;AC091959;AK026358;AK074316;AK128738;AL833706;AMYH01015684;AMYH01015685;BC009537;BC029648;BC033524;BX647384;NM_018989 AAH09537;AAH33524;BAA92549;BAG54723;NP_061862;Q9P2N5 Hs.61441 1696914;1780572 RH101925;bac51209T ARRS1;KIAA1311;Psc1;ZC3H18 OTTHUMP00000223925;RNA-binding motif protein 27;RNA-binding protein 27;acidic rich RS domain containing 1 protein-coding ENSG00000091009 29243 VALIDATED 1350280 RBM3 RNA binding motif (RNP1, RRM) protein 3 This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2008] X X p11.2 48317780 48321748 + 48432741 48439553 + 1580863;6480464 15772651;15635413;15489334;15144186;15075239;12824175;12477932;9245737;15518812;8634703;19277990;18427544;16552754;15782174;21145461;21319273;20727170;19734850;19770690;21209461;22939629;21777469;16196087;21955582;21139048;21956899;22805320;19738201;22623428;23151878;23565664 5935 F5GZ81;P98179;Q9H5V0 AA460548;ABBA01046021;ABBA01046022;ABBA01046023;ABBA01046024;ABBA01046025;ABBA01046026;ABBA01046027;ABBA01046028;ABBA01046029;ABBA01046030;AC115618;AK000859;AK026664;AK289614;AK309137;AMYH01022290;AY203954;BC006825;BI523929;BQ429805;BX647914;CD559009;CH471224;HB645627;NM_006743 AAH06825;AAP34477;BAB15519;BAF82303;CBB98488;EAW50765;EAW50766;EAW50767;EAW50768;NP_006734;P98179 Hs.301404 1645930;1666599;1672911;2128990;2161566;2189371;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;MARC_3075-3076:991936711:1;RH11301;SHGC-31984;SHGC-35486;STS-AA037884;STS-N40932 IS1-RNPL;RNPL OTTHUMP00000025800;OTTHUMP00000025802;RNA binding motif protein 3;RNA-binding motif protein 3;putative RNA-binding protein 3 APPROVED protein-coding 9900 02067 300027 REVIEWED 1604982 RBM33 RNA binding motif protein 33 7 7 7 q36.3 149860791 149997767 + 155129964 155266940 + 155437203 155574179 + 6480464 17081983;16344560;15489334;15342556;15146197;14702039;12853948;12690205;12477932;11181995;20936779;22939629;20811636;16751776;19596686;21139048;21693764;19322201 155435 A8MTF7;C9J7M3;H0Y3K3;H0Y3K4;H7BXM6;H7C0H2;Q96EV2 AACC02000068;ABBA01032389;ABBA01032390;AC009403;AC078834;AC092460;AK055460;AK055645;AK056415;AK301179;AK307515;AL137724;AL832196;AMYH01018183;BC011923;BC093947;BC093949;BP373239;CH236954;CH471149;CN402759;DA459140;DA504982;DA947894;DQ587177;NM_053043 AAH11923;AAH93947;AAH93949;AAS01989;AAS02026;AAS07551;BAG62764;CAB70894;EAL23911;EAL23912;EAX04539;EAX04540;EAX04541;NP_444271;Q96EV2 Hs.591815 1337406;1645452;1646609;1654347;1662454;1670086;1739977;1749199;1790519;2114721;2119964;2126080;2128800;2149586;2152291;2153685;2171763;2175560;2181506;7185134 ATC-P7576;D7S2307;D7S2392;D7S3034;D7S392;D7S550;G09465;G29161;RH11021;RH16482;RH18251;RH45459;RH45482;RH48753;SGC34464;SHGC-110879;SHGC-53753;STS-T84461;WI-18043 DKFZp434D1319;MGC20460;PRR8 OTTHUMP00000196824;RNA-binding motif protein 33;RNA-binding protein 33;hypothetical protein MGC20460;proline rich 8;proline-rich protein 8 protein-coding ENSG00000184863 27223 17310 VALIDATED 1322736 RBM28 RNA binding motif protein 28 The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 7 q32.1 122753554 122787084 - 127737673 127771198 - 127950436 127983962 - 6480464;6907045;7240710 21145461;18439547;17081119;16344560;15635413;15489334;14702039;12477932;12429849;11790298;8889548;8125298;20231366;18029348;21182205;22939629;12777385;19596686;19471022;21139048;21693764;22178446;21628590;22586326;22944692 55131 C9JAA9;C9JE21;H7C5G8;Q9NW13 AACC02000001;ABBA01057677;AC010655;AC018635;AK001239;AK222716;AK300500;AMYH01017915;BC013889;BU609187;CH236947;CH471070;DA566130;NG_015802;NM_001166135;NM_018077 AAH13889;BAA91575;BAD96436;BAG62214;EAL24314;EAW83643;EAW83644;NP_001159607;NP_060547;Q9NW13 Hs.274263 2106583;5111592 RBM28__5657;RH94090 FLJ10377 2810480G15Rik;OTTHUMP00000212372;OTTHUMP00000212373;RNA-binding motif protein 28;RNA-binding protein 28 APPROVED protein-coding ENSG00000106344 21863 07668 612074;612079 REVIEWED 1602128 RBM34 RNA binding motif protein 34 1 1 1 q42.3 208537121 208567232 - 233361572 233391194 - 235294498 235324571 - 6480464 17081983;16710414;15635413;15489334;15134903;12477932;12429849;7788527;17207965;18029348;20098747;21139048;22586326;21628590 23029 A2A2V2;H7C5M1;P42696;Q5TCT4 ABBA01033118;ABBA01033119;AK292362;AL133418;AL732292;AMYH01001841;AMYH01001842;BC029451;BQ000441;CB052493;CH471098;D38491;NM_001161533;NM_015014;NR_027762 AAH29451;ADQ32089;BAA07503;BAF85051;EAW70005;EAW70006;EAW70007;NP_001155005;NP_055829;P42696 Hs.535224 1681458;1778571;2155530;5015619;5015961;5022200;5037552 D11S3114;D15S1477;D1S2421;D8S2279;L18426;RH25341;SHGC-76569 KIAA0117 OTTHUMP00000039006;OTTHUMP00000039007;OTTHUMP00000039008;RNA-binding motif protein 34;RNA-binding protein 34 protein-coding ENSG00000188739 28965 11065 VALIDATED 7242163 RBM43P1 RNA binding motif protein 43 pseudogene 1 100131568 ABBA01030905;AC112212;AMYH01013264;NG_009048 pseudo 46024 INFERRED 1318308 RBM38 RNA binding motif protein 38 20 20 20 q13.31 52706709 52724603 + 55399870 55417795 + 55966454 55984389 + 1580863;6480464 20457941;22371495;17050675;19285943;15489334;12477932;12200376;11780052;20139978;20339536;19817877;22214381;22027593;21764855;21139048;21906983;22508983;21988832;23222517;23300278;22710720 55544 A6NG75;E9PSF1;F6VZ39;Q9H0Z9 ABBA01052925;ABBA01052926;AF432218;AL109955;AMYH01012010;AMYH01012011;BC018711;CH471077;DB504051;DN998561;NM_017495;NM_183425;X75314 AAH18711;AAL99924;ABM82920;ABM86110;CAA53063;EAW75520;EAW75521;EAW75522;NP_059965;NP_906270;Q9H0Z9 Hs.236361 1677877;2159057;5092702 G32274;RH66941;STS-X75314 HSRNASEB;RNPC1;SEB4B;SEB4D;dJ800J21.2 CLL-associated antigen KW-5;OTTHUMP00000031368;OTTHUMP00000210222;OTTHUMP00000210223;OTTHUMP00000233934;RNA-binding motif protein 38;RNA-binding protein 38;RNA-binding region containing protein 1;RNA-binding region-containing protein 1;ssDNA binding protein SEB4;ssDNA-binding protein SEB4 protein-coding ENSG00000132819 15818 15268 612428 VALIDATED 1320763 RBM39 RNA binding motif protein 39 This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011] 20 20 q11.22 33754945 33793607 - 34291531 34330258 - 1580863;6480464 12477932;11780052;17567994;21832049;18029348;8227358;19342371;18753212;17081983;15747776;15694343;15635413;14667819;21145461;11704680;21551269;15798186;17643375;18559666;19381943;20515076;9417904;16159877;18258596;19454010;21385873;21182205;22990118;22939629;20508642;22711543;16196087;17342744;21252943;16051665;19596686;20360068;21081666;21987572;17361185;21628590;21670149;19471022;21139048;21890473;21906983;21907836;22009261;17332742;22354994;22586326;22053931;22174317;22505724 9584 A8MYG5;B4DRA0;E1P5S2;F2Z2Z5;F2Z3E6;F8WF24;F8WF73;G3XAC6;H0Y4X3;H0Y6I9;H7BZG3;Q14498;Q5QP21;Q5QP22;Q5QP23 ABBA01019150;ABBA01019151;AK126158;AK130283;AK297520;AK299165;AK299678;AK303910;AL357374;AL833168;AMYH01011875;AMYH01011876;BC008204;BC107886;BC131543;BC141835;BC158172;BI460666;BX537770;BX640714;BX640812;C75555;CH471077;CR749443;DC346351;DQ656052;L10910;L10911;NG_029955;NM_001242599;NM_001242600;NM_004902;NM_184234;NR_040722;NR_040723;NR_040724;U92990 AAA16346;AAA16347;AAI31544;AAI41836;AAI58173;BAG54289;BAG61212;BAG61586;BAG64839;BAH12603;CAD97833;CAE45833;CAE45890;CAH18281;EAW76159;EAW76160;EAW76161;EAW76162;EAW76163;EAW76164;EAW76165;EAW76166;EAW76167;NP_001229528;NP_001229529;NP_004893;NP_909122;Q14498 Hs.282901 1676136;1676832;1678373;1740869;1745939;1799780;1801692;1802166;1802476;1803180;1805830;1809058;1810520;1812220;1812344;1812618;1814534;1815518;1817050;1817838;1818270;1818348;1820330;1821840;1822428;1824934;1829816;1829868;1830170;1830424;1830774;1833850;1834380;1834382;1836038;1837796;1837850;1840628;1841306;1842094;1843518;1845008;1845766;1858606;1975786;1975788;1975790;1975792;1975794;1975796;1975798;1975800;1975802;1975804;1975806;1975808;1975810;1975812;1975814;1975816;1975818;1975820;1975822;1975824;1975826;1975828;1975830;1975832;1975834;1975836;1975838;1975840;1975842;1975844;1975846;1975848;1975850;1975852;1975854;1975856;1975858;1975860;1975862;1975864;1975866;1975868;1975870;1975872;1975874;1975876;1975878;1975880;1975882;1975884;1975886;1975888;1975890;1975892;1975894;1975896;1975898;1975900;1975902;1975904;1975906;1975908;1975910;1975912;1975914;1975916;1975918;1975920;1975922;1975924;1975926;1975928;1975930;1975932;1975934;1975936;1975938;1975940;1975942;1975944;1975946;1975948;1975950;1975952;1975954;1975956;1975958;1975960;1975962;1975964;1975966;1975968;1975970;1975972;1975974;1975976;1975978;1975980;1975982;1975984;1975986;1975988;1975990;1975992;1975994;1975996;1975998;1976000;1976002;1976004;1976006;1976008;1976010;1976012;1976014;1976016;1976018;1976020;1976022;1976024;1976026;1976028;1976030;1976032;1976034;1976036;1976038;1976040;1976042;1976044;1976046;1976048;1976050;1976052;1976054;1976056;1976058;1976060;1976062;1976064;1976066;1976068;1976070;1976072;1976074;1976076;1976078;1976080;1976082;1976084;1976086;1976088;1976090;1976092;1976094;1976096;1976098;1976100;1976102;1976104;1976106;1976108;1976110;1976112;1976114;1976116;1976118;1976120;1976122;1976124;1976126;1976128;1976130;1976132;2179210;2191299;2215626;2215628;2215630;2215632;2215634;2215636;2215638;2215640;2215642;2215644;2215646;2215648;2215650;2215652;2215654;2215656;2215658;2215660;2215662;2215664;2215666;2215668;2215670;2215672;2215674;2215676;2215678;2215680;2215682;2215684;2215686;2215688;5022200;5022588 D19S1033;D5S1597E;ECD00744;ECD01725;ECD01965;ECD02124;ECD02481;ECD03866;ECD05516;ECD06253;ECD07117;ECD07179;ECD07319;ECD08297;ECD08795;ECD09574;ECD09973;ECD10192;ECD10231;ECD11240;ECD12006;ECD12302;ECD13566;ECD16041;ECD16067;ECD16218;ECD16346;ECD16523;ECD18071;ECD18338;ECD18339;ECD19180;ECD20068;ECD20095;ECD21504;ECD21849;ECD22250;ECD22968;ECD23720;ECD24102;ECD24504;G64285;L18426;MARC_17207-17208:1023890900:1;REN58781;REN58782;REN58783;REN58784;REN58785;REN58786;REN58787;REN58788;REN58789;REN58790;REN58791;REN58792;REN58793;REN58794;REN58795;REN58796;REN58797;REN58798;REN58799;REN58800;REN58801;REN58802;REN58803;REN58804;REN58805;REN58806;REN58807;REN58808;REN58809;REN58810;REN58811;REN58812;REN58813;REN58814;REN58815;REN58816;REN58817;REN58818;REN58819;REN58820;REN58821;REN58822;REN58823;REN58824;REN58825;REN58826;REN58827;REN58828;REN58829;REN58830;REN58831;REN58832;REN58833;REN58834;REN58835;REN58836;REN58837;REN58838;REN58839;REN58840;REN58841;REN58842;REN58843;REN58844;REN58845;REN58846;REN58847;REN58848;REN58849;REN58850;REN58851;REN58852;REN58853;REN58854;REN58855;REN58856;REN58857;REN58858;REN58859;REN58860;REN58861;REN58862;REN58863;REN58864;REN58865;REN58866;REN58867;REN58868;REN58869;REN58870;REN58871;REN58872;REN58873;REN58874;REN58875;REN58876;REN58877;REN58878;REN58879;REN58880;REN58881;REN58882;REN58883;REN58884;REN58885;REN58886;REN58887;REN58888;REN58889;REN58890;REN58891;REN58892;REN58893;REN58894;REN58895;REN58896;REN58897;REN58898;REN58899;REN58900;REN58901;REN58902;REN58903;REN58904;REN58905;REN58906;REN58907;REN58908;REN58909;REN58910;REN58911;REN58912;REN58913;REN58914;REN58915;REN58916;REN58917;REN58918;REN58919;REN58920;REN58921;REN58922;REN58923;REN58924;REN58925;REN58926;REN58927;REN58928;REN58929;REN58930;REN58931;REN58932;REN58933;REN58934;REN58935;REN58936;REN58937;REN58938;REN58939;REN58940;REN58941;REN58942;REN58943;REN58944;REN58945;REN58946;REN58947;REN58948;REN58949;REN58950;REN58951;REN58952;REN58953;REN58954;RH67917;RH69003;RH92481;STS-R02552;stSG636808;stSG636809;stSG636810;stSG636811;stSG636812;stSG636813;stSG636814;stSG636815;stSG636816;stSG636817;stSG636818;stSG636819;stSG636820;stSG636821;stSG636822;stSG636823;stSG636824;stSG636825;stSG636826;stSG636827;stSG636828;stSG636829;stSG636830;stSG636831;stSG636832;stSG636833;stSG636834;stSG636835;stSG636836;stSG636837;stSG636838;stSG636839 CAPER;CAPERalpha;CC1.3;DKFZp781C0423;FLJ44170;HCC1;RNPC2;fSAP59 OTTHUMP00000030794;OTTHUMP00000030795;OTTHUMP00000063388;OTTHUMP00000196683;OTTHUMP00000198911;OTTHUMP00000198912;OTTHUMP00000198913;RNA-binding motif protein 39;RNA-binding protein 39;RNA-binding region-containing protein 2;coactivator of activating protein-1 and estrogen receptors;functional spliceosome-associated protein 59;hepatocellular carcinoma protein 1;splicing factor CC1.3;splicing factor HCC1 APPROVED protein-coding ENSG00000131051 15923 09201 604739 REVIEWED 1601847 RBM42 RNA binding motif protein 42 19 19 19 q13.12 32833444 32842052 + 40811820 40820427 + 36119980 36128587 + 6480464 19170760;21145461;16713569;16189514;12477932;19615732;21832049;22939629;21139048;21890473;22174317 79171 K7EML2;K7EP90;K7EQ03;K7ER08;Q9BTD8 ABBA01018751;AC002115;AK301669;AMYH01009728;BC002868;BC004204;BC031682;NM_024321 AAB57629;AAH02868;AAH04204;AAH31682;ADZ15351;BAG63142;NP_077297;Q9BTD8 Hs.5086 MGC10433 RNA-binding motif protein 42;RNA-binding protein 42 protein-coding ENSG00000126254 28117 11303 613232 PROVISIONAL 1604694 RBM43 RNA binding motif protein 43 2 2 2 q23.3 145718988 145732652 - 151814156 151826623 - 152104728 152118389 - 6480464 16344560;14702039;12477932;21139048;22238593;23472165 375287 B8ZZQ2;Q6ZSC3 ABBA01004764;ABBA01004765;AC009311;AC018731;AK127552;AMYH01011168;BC136410;BC136411;BX337439;CH471058;DA658209;NM_198557 AAI36411;AAI36412;BAC87031;EAX11514;NP_940959;Q6ZSC3 Hs.302442 1656647;5014051;5022200;5022651;5037552;5117897 D11S2921;D8S2278;D8S2279;GDB:631813;L18426;WI-11605 C2orf38;FLJ45645 OTTHUMP00000162692;RNA-binding motif protein 43;RNA-binding protein 43 protein-coding ENSG00000184898 24790 10992 VALIDATED 1625816 RBM44 RNA binding motif protein 44 2 2 2 q37.3 232420425 232464485 + 238372127 238408253 + 238707388 238751451 + 6480464 18029348;16344560;14702039;12477932 375316 Q6ZP01;Q8N7S3 ABBA01042596;AC012076;AI885906;AK097730;AK130316;AMYH01011599;BC126111;BX648107;DB087405;NM_001080504 AAI26112;AAI56420;BAC05154;BAC85324;NP_001073973;Q6ZP01 Hs.607265;Hs.720233 FLJ40411 OTTHUMP00000202786;RNA-binding motif protein 44;RNA-binding protein 44 protein-coding ENSG00000177483 24756 VALIDATED 6484107 RBM48P1 RNA binding motif protein 48 pseudogene 1 4 q28.1 127484790 127485928 + 132817 ABBA01044786;AC097528;AMYH01014506;NG_022076 pseudo 44054 INFERRED 1605361 RBM41 RNA binding motif protein 41 X X X q22.3 106776426 106833365 - 106197024 106248690 - 106305115 106362057 - 6480464 15489334;16189514;15772651;14702039;12477932;16344560;18271526 55285 H0Y6F9;Q96IZ5 ABBA01035851;ABBA01035852;ABBA01035853;ABBA01035854;ABBA01035855;ABBA01035856;ABBA01035857;ABBA01035858;ABBA01035859;ABBA01035860;AK001878;AK023732;AL390039;AL832966;AMYH01022827;BC006986;CH471120;DA255574;NG_016385;NM_001171080;NM_018301 AAH06986;BAA91957;BAB14660;EAX02722;EAX02723;EAX02724;NP_001164551;NP_060771;Q96IZ5 Hs.139053 1655540;2136880;2175566;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;L18426;RH17499;RH18436;SHGC-33214 FLJ11016;FLJ13670;RP13-383K5.1;bB383K5.1 OTTHUMP00000023795;OTTHUMP00000023796;RNA-binding motif protein 41;RNA-binding protein 41 protein-coding 25617 06515 VALIDATED 730942 RBM45 RNA binding motif protein 45 2 2 2 q31.2 172580082 172597283 + 178685428 178702629 + 178977182 178994383 + 6480464 12220514;15489334;12477932;21145461;19615732;18029348;17207965;21906983;22993125 129831 H7BZE0;H7C476;Q8IUH3 AB036991;ABBA01062241;AC011238;AC011998;AF526533;AK126575;AMYH01011304;BC037837;BC066549;CH471058;NM_152945 AAH66549;AAM88417;ADQ31975;BAC16207;EAX11044;EAX11045;EAX11046;NP_694453;Q8IUH3 Hs.377257 1777088;2137221;2150300;2190593 EST-CFZ97826;HSC2RB112;SHGC-32837;WI-15842 DRB1;FLJ44612;MGC42237 OTTHUMP00000205295;OTTHUMP00000205296;RB-1;RNA-binding motif protein 45;RNA-binding protein 45;developmentally regulated RNA-binding protein 1;developmentally-regulated RNA-binding protein 1;putative RNA binding protein RB-1 protein-coding ENSG00000155636 24468 09927 608888 PROVISIONAL 7247195 RBM5-AS1 RBM5 antisense RNA 1 This gene encodes an antisense RNA that may be involved in suppression of apoptosis by regulating the expression of splice variants from sense strand locus, RNA binding motif protein 5. [provided by RefSeq, Oct 2011] 10949932;19559772 100775107 ABBA01024554;AC104450;AMYH01013166;EF470865;NR_045388 Hs.439480 LUST miscrna 48871 REVIEWED 1602830 RBM46 RNA binding motif protein 46 4 4 4 q32.1 153033415 153080956 + 155921950 155969415 + 155702427 155749965 + 6480464 16344560;12477932 166863 B3KWU8;B4DZ27;D6RF41;Q8TBY0 ABBA01070160;ABBA01070161;AC009567;AK125877;AK302720;AMYH01014634;BC028588;CH471056;DB088314;DB449155;DB527978;HC044665;NM_001277171;NM_001277173;NM_144979 AAH28588;ADZ15463;BAG54260;BAG63939;CBH30662;EAX04902;EAX04903;NP_001264100;NP_001264102;NP_659416;Q8TBY0 Hs.133095 1699792 RH103503 CT68;MGC27016 OTTHUMP00000220357;OTTHUMP00000220358;OTTHUMP00000220359;RNA-binding motif protein 46;cancer/testis antigen 68;probable RNA-binding protein 46 protein-coding ENSG00000151962 28401 14517 VALIDATED 1315765 RBM4 RNA binding motif protein 4 11 11 q13 66162714 66170516 + 66406088 66435856 + 6480464 9169144;19416963;18708123;17284590;16934801;16777844;16344560;16260624;15592455;15489334;14702039;12628928;12477932;12469345;11790298;8125298;18276110;15159402;12508107;21145461;15231748;18723113;19801630;8889548;19561594;21518792;22939629;21139048;21562054;21890473;21987572;21926972;19471022;21628590;23527094;16907643;19738201;21963094;22365833;22623428;23000965;22505724 5936 D6R9K7;E9PB51;J3QRR5;Q9BWF3 ABBA01024068;ABBA01024069;AF087999;AK094046;AK097592;AK225071;AK303984;AL832566;AMYH01003735;AP001157;AW575232;BC000307;BC021120;BC032735;BC064960;CB242056;CH471076;DA046115;DC366746;NM_001198843;NM_001198844;NM_002896;U89505 AAC51293;AAH00307;AAH21120;AAH32735;AAH64960;ABZ92531;BAG53492;BAG64902;CAH10593;EAW74555;EAW74556;NP_001185772;NP_001185773;NP_002887;Q9BWF3 Hs.523822;Hs.728823 1668668;1668670;1856078;2108413;2163274;2185004;2186814;5016781;5022651 D11S2921;HSCZXF072;RBM4_8587;RH41917;RH46373;SHGC-56674;SHGC-67307;WI-18402;WI-18671 DKFZp547K0918;FLJ36727;LARK;MGC75138;RBM4A;ZCCHC21;ZCRB3A OTTHUMP00000205224;OTTHUMP00000205225;OTTHUMP00000205226;OTTHUMP00000219043;OTTHUMP00000235523;OTTHUMP00000235525;RNA-binding motif protein 4;RNA-binding motif protein 4a;RNA-binding protein 4;hLark;lark homolog;transcriptional coactivator CoAZ;zinc finger CCHC-type and RNA binding motif 3A protein-coding ENSG00000173933 9901 03982 602571 VALIDATED 1642917 RBM47 RNA binding motif protein 47 4 4 4 p14 40866838 41073114 - 40120029 40326640 - 40425272 40631883 - 6480464 16344560;16341674;15342556;12477932;16712791;20379614;21890473;19322201 54502 A0AV96;B7Z8Z7;D6R9D6;D6R9M7;D6RA49;D6RBP6;D6RBS9;D6RCT1;D6REZ6;D6RFL5 ABBA01014245;ABBA01014246;ABBA01014247;ABBA01014248;ABBA01014249;ABBA01014250;ABBA01014251;ABBA01014252;AC098869;AC112717;AF261889;AF262323;AK000280;AK024997;AK025296;AK304206;AMYH01014126;AMYH01014127;AMYH01014128;BC034402;BC071585;BC126261;BC143942;BM837005;BP332501;BX648404;CB124502;CH471069;DA861151;NM_001098634;NM_019027 A0AV96;AAH34402;AAI26262;AAI43943;AAM21972;AAM21973;ADR83083;BAA91049;BAH14133;EAW92964;EAW92965;EAW92966;EAW92967;EAW92968;EAW92969;NP_001092104;NP_061900 Hs.518727 1666244;1683719;1749897;1750435;2113642;2121628;2152347 RH36240;RH47703;RH94065;SHGC-111624;SHGC-111748;SHGC-67234;UniSTS:479074 DKFZp686F02235;FLJ20273;FLJ21344;FLJ21643;NET18 OTTHUMP00000158755;OTTHUMP00000158756;OTTHUMP00000218858;OTTHUMP00000218859;RNA binding motif protein 47;RNA-binding motif protein 47;RNA-binding protein;RNA-binding protein 47 protein-coding ENSG00000163694 30358 VALIDATED 1351687 RBM4B RNA binding motif protein 4B 11 11 11 q13 63759071 63771879 - 66189045 66201851 - 66432469 66445275 - 737633;1580863;6480464 12477932 17081983;16189514;15489334;14702039;12628928;12429849;16169070;21145461;20936779;21926972;19322201;21832049;22505724 83759 E9PLB0;E9PM61;H0YDG8;Q9BQ04 ABBA01024067;ABBA01024068;AK095158;AMYH01003735;AP001157;BC003503;BC004951;CH471076;NM_031492 AAH03503;AAH04951;ADZ15871;BAG52995;EAW74558;NP_113680;Q9BQ04 Hs.618713 1647574;1683874;2131434;2163274;5093278 A009K38;D11S1217;G32624;RH70506;WI-18402 MGC10871;RBM30;RBM4L;ZCCHC15;ZCCHC21B;ZCRB3B OTTHUMP00000235533;OTTHUMP00000235534;RNA binding motif protein 30;RNA-binding motif protein 30;RNA-binding motif protein 4B;RNA-binding protein 30;RNA-binding protein 4B;zinc finger CCHC-type and RNA binding motif 3B protein-coding ENSG00000173914 28842 15230 PROVISIONAL 1352463 RBM8B RNA binding motif protein 8B pseudogene 14 14 14 q23.1 40914557 40917343 + 59934098 59937084 + 60864446 60867232 + 7240710 11707068;11013075 112846 ABBA01018280;ABBA01018281;AF403013;AL132778;AMYH01005766;NG_002415 1644980;1678441;1682493;2191025;2191779 Bdaa5e06;MARC_13480-13481:1003840387:1;MARC_7387-7388:996687855:1;RH12855;RH80039 pseudo 13426 274000 INFERRED 1350787 RBMS1P1 RNA binding motif, single stranded interacting protein 1 pseudogene 1 12 12 12 q14.3 66291022 66293236 - 64913784 64915377 - 66626796 66629006 - 6480464 8871567 5938 ABBA01026575;AC078889;AMYH01004554;D82351;NG_000866;NG_021194 BAA11561 1680825;1686166;1852639 G09311;RH80864;RH80872 MSSP1;RBMS1P APPROVED pseudo 9908 INFERRED 1602202 RBM48 RNA binding motif protein 48 7 7 7 q21.2 86862619 86871355 + 91996023 92004759 + 92158087 92166823 + 6480464 16169070;15383276;14702039;12477932;11230166;8889548;18029348;21900206 84060 B7Z2K5;C9J787;Q5RL73 AACC02000014;ABBA01045802;AC005156;AC007566;AF161422;AK054777;AK294626;AK294812;AL136619;AMYH01017691;BC020919;BC033561;BC044570;BC065716;BC104865;BC104867;BC143576;BM970879;CH236949;CH471091;CR533549;CR933641;CR936726;NM_032120 AAF28982;AAH20919;AAH33561;AAH44570;AAI04866;AAI04868;AAI43577;BAB70806;BAG57807;BAH11891;CAB66554;CAG38580;CAI45942;EAL24148;EAW76838;EAW76839;NP_115496;Q5RL73 Hs.21590 5015869;5015961;5016781;5022322;5037552 D11S2560;D15S1477;D8S2279;GDB:313261;SHGC-67307 C7orf64;DKFZP564O0523;DKFZp686D1651;HSPC304 OTTHUMP00000215751;OTTHUMP00000215752;RNA-binding protein 48;UPF0712 protein C7orf64;hypothetical protein LOC84060 APPROVED protein-coding ENSG00000127993 21785 13173 VALIDATED 1641974 RBMS2P1 RNA binding motif, single stranded interacting protein 2 pseudogene 1 12 12 12 q22 94488503 94490085 - 93341367 93343051 - 94817244 94818826 - 643427 ABBA01053364;AC073655;AMYH01004661;NG_008697 1654262 D12S1881 RBMS2P APPROVED pseudo 30994 INFERRED 1342651 RBM6 RNA binding motif protein 6 3 3 3 p21.3 49943716 50087548 + 49952596 50089686 + 49977477 50114685 + 1580863;6480464 10352938;17908320;17360941;17081983;16964243;15302935;14702039;12477932;11085536;10486216;10353602;9500467;16344560;21102462;22586326;19471022;21139048;21693764 10180 A8K6Q4;B4DNY1;B4E0G6;C9J250;C9JII0;C9JMC8;C9JSL1;E9PGM9;F8WCA5;F8WCT0;F8WF63;P78332 ABBA01024555;ABBA01024556;ABBA01024557;ABBA01024558;ABBA01024559;ABBA01024560;ABBA01024561;ABBA01024562;ABBA01024563;ABBA01024564;ABBA01024565;ABBA01024566;AC104450;AC105935;AF042857;AF069517;AF091264;AK093836;AK096765;AK124030;AK291719;AK298108;AK303371;AK308794;AL832236;AMYH01013164;AMYH01013165;AY216800;BC012112;BC030057;BC046643;BX648535;CH471055;DA068167;NM_001167582;NM_005777;U50839 AAC05826;AAC21578;AAC35207;AAD04160;AAH46643;AAO91806;BAC85756;BAF84408;BAG52768;BAG60393;BAG64428;EAW65039;NP_001161054;NP_005768;P78332 Hs.696735 1341490;1342126;1736704;1738905;1738917;1739551;1793482;1793484;1793486;1793488;1855382;2132415;2140841;2158305;2175146;5014051;5015619;5015961;5016478;5016700;5021872;5022578;5037552;7187077 D11S3114;D15S1477;D1S1423;D3S2968;D3S3150;D3S3179;D3S3186;D3S3444;D3S3604;D3S3667;D3S4023;D3S4064;D3S4065;D8S2278;D8S2279;GDB:434012;PMC22669P21;PMC22669P22;PMC22669P23;PMC22669P24;RH79802;WI-18724;sY3084 3G2;DEF-3;DEF3;DKFZp686B0877;FLJ36517;FLJ39446;FLJ42036;HLC-11;NY-LU-12;g16 OTTHUMP00000210487;OTTHUMP00000210492;OTTHUMP00000210499;OTTHUMP00000210501;RNA-binding motif protein 6;RNA-binding protein 6;RNA-binding protein DEF-3;lung cancer antigen NY-LU-12;lung cancer protooncogene 11 protein-coding ENSG00000004534 9903 06054 606886 VALIDATED 6481329 RBMS3-AS1 RBMS3 antisense RNA 1 100873977 AC099048 APPROVED miscrna 39987 6481327 RBMS3-AS2 RBMS3 antisense RNA 2 100873978 AC021068 APPROVED miscrna 39988 6481326 RBMS3-AS3 RBMS3 antisense RNA 3 100873979 AC012262 APPROVED miscrna 39989 1317542 RBM7 RNA binding motif protein 7 11 11 11 q23.1-q23.2 111424330 111432572 + 113776594 113784845 + 114271384 114279635 + 1580863;6480464 21145461;16964243;16189514;15489334;15302935;14702039;12634307;12477932;8125298;19447967;17207965;16159877;19156129;22242598;22446626;19369198;16263084 10179 F5GXV8;F5GY08;F5H606;F5H674;G3V1T9;J3KPD3;Q9Y580 AB209753;ABBA01039770;AF156098;AK002015;AK225615;AK225667;AK312619;AMYH01004043;AP002373;BC013320;BC034381;BC070262;CH471065;NM_016090 AAD39257;AAH34381;AAH70262;ADQ31580;BAA92036;BAD92990;BAG35505;EAW67246;EAW67247;EAW67248;NP_057174;Q9Y580 Hs.7527 1671964;1685928;1698396;1734954;1763725;1766059;2109745;2131054;2162879;2171568;5015961;5109281 C95589;D15S1477;D1S1425;D2S1708E;RBM7_9055;RH102740;RH99159;SHGC-147400;SHGC-149441;STS-H59141;STS-N24654;STS-N34855 FLJ11153 OTTHUMP00000238422;OTTHUMP00000238423;OTTHUMP00000238424;OTTHUMP00000238427;RNA-binding motif protein 7;RNA-binding protein 7 protein-coding ENSG00000076053 9904 11488 612413 PROVISIONAL 1312863 RBM5 RNA binding motif protein 5 This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011] 3 3 p21.3 50101372 50131397 + 50126341 50156397 + 1580863;6480464 10352938;18840686;18951082;18851835;18038152;17908320;17606309;17081983;16927403;16585163;16546166;16169070;15489334;15338470;15192330;14702039;12581154;12477932;12036935;10949932;10508479;10497265;10486216;16945339;12226669;21145461;22839758;18029348;19559772;20309933;20338664;22537942;23158838;22990118;22882865;15146197;16344560;18587224;8889548;21900206;22609235;23017209;17332742;22569250;19471022;22365833;22866867 10181 C9J9P7;C9JFQ5;C9JR02;F8W910;F8WE23;H7BYM9;Q9UKY8 AB208813;AB586690;ABBA01024554;AC104450;AF091263;AF103802;AF107493;AK097195;AK297249;AK297445;AK302766;AK314032;AL701303;AMYH01013166;AMYH01013167;AU129811;BC002957;BM985111;BQ899199;BX441555;CH471055;CN293007;DA776815;DB080737;DR762951;NG_030403;NM_005778;NR_036627;U23946;U73168 AAA99715;AAB42216;AAD04159;AAF02422;AAF99551;AAI56349;AAI57103;BAD92050;BAG36742;BAG59728;BAG59871;BAG63975;BAJ19019;EAW65040;EAW65041;EAW65042;NP_005769;P52756 Hs.439480 1649087;1658624;1686869;1738881;1738907;1739787;1793476;2118014;2131629;2160417;5015861;5022450;7185938 D10S16;D10S275;D3S3165;D3S3180;D3S3479E;G16543;IB431;PMC22669P19;RH24950;RH77698;STS-AA001762;STS-AA037589 FLJ39876;G15;H37;LUCA15;RMB5 OTTHUMP00000210613;RNA-binding motif protein 5;RNA-binding protein 5;putative tumor suppressor LUCA15;renal carcinoma antigen NY-REN-9 APPROVED protein-coding ENSG00000003756 9902 06052 606884 REVIEWED 5131392 RBMX2P1 RNA binding motif protein, X-linked 2 pseudogene 1 21 21 21 q11.2 1371210 1372050 - 15113864 15124181 - 16201470 16202310 - 100128341 ABBA01057084;AF127936;AMYH01012140;NG_021989 pseudo 39923 INFERRED 5131391 RBMX2P2 RNA binding motif protein, X-linked 2 pseudogene 2 X X X q27.2 140725000 140725859 + 140185124 140186001 - 140357479 140358338 - 100132808 ABBA01023064;AC234777;AL109799;AMYH01023084;NG_022644 1795214 bG82i1.1,_DNA_segment_containing_(GT)_repeat pseudo 39924 INFERRED 5131387 RBMX2P3 RNA binding motif protein, X-linked 2 pseudogene 3 1 1 117858461 117859414 - 119627624 119628577 - 100421047 ABBA01068511;AL359823;AMYH01000975;NG_026974 pseudo 39925 INFERRED 5688426 RBMX2P4 RNA binding motif protein, X-linked 2 pseudogene 4 7 p21.3 12961969 12962545 - 9847074 100862677 AACC02000009;ABBA01056581;AC006000;AMYH01017077;CH236948;NG_032115 pseudo 39926 INFERRED 5131394 RBMX2P5 RNA binding motif protein, X-linked 2 pseudogene 5 5 5 5 q14.1 75528622 75529680 - 79663148 79664116 - 79626599 79628411 - 391804 ABBA01062033;ABBA01062034;AC026410;AMYH01015445;NG_028951 pseudo 39927 INFERRED 1320809 RBM8A RNA binding motif protein 8A This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013] 1 1 q21.1 144218995 144222801 + 145507557 145513536 + 1580863;6480464;6907045;7240710 11030346;18026120;19410547;12226669;11013075;19254694;18503751;18243119;17456004;17081983;16964243;16931718;16501559;16303743;16209946;16189514;16170325;16100109;16083285;15635413;15489334;15302935;14730019;14625303;12944400;12781131;12730685;12718880;12477932;12093754;12054603;11991638;11707413;11707068;11696323;11546874;11546873;11447110;11118221;11042152;11004516;10662555;9933612;20098747;18029348;19615732;16159877;16344560;21209085;16601204;19417104;21145460;21832049;22939629;22365833;23084401;22355610;9222511;22366785;19471022;21139048;20301781;16452507;23115303;20371770;22944692 9939 Q8WWE9;Q9Y5S9 ABBA01005742;AC243547;AF127761;AF161463;AF182415;AF198620;AF231511;AF299118;AF403012;AI424454;AK075009;AL049219;AL160282;AMYH01001373;BC017088;BC017770;BC071577;CH471244;CQ783804;CR541805;CR541823;DB286556;NG_032654;NM_005105 AAD21089;AAF29078;AAF37551;AAG14951;AAG16781;AAG27091;AAH17088;AAH17770;AAL26999;ACT64417;ACT64418;BAG52051;CAF86870;CAG46604;CAG46622;EAW71418;EAW71419;NP_005096;Q9Y5S9 Hs.591455 1644980;1645734;1661843;1662793;1678441;1682493;1683068;2141608;2158585;2191025;2191779;5037552 A008J33;Bdaa5e06;D8S2279;G19805;MARC_13480-13481:1003840387:1;MARC_7387-7388:996687855:1;RH10610;RH12855;RH80039;SHGC-75413;WI-19788;WI-22172 BOV-1A;BOV-1B;BOV-1C;C1DELq21.1;DEL1q21.1;MDS014;RBM8;RBM8B;TAR;Y14;ZNRP;ZRNP1 BOV-1;OTTHUMP00000015573;OTTHUMP00000015574;RNA binding motif protein 8B;RNA-binding motif protein 8A;RNA-binding protein 8A;RNA-binding protein Y14;binder of OVCA1-1;ribonucleoprotein RBM8;ribonucleoprotein RBM8A APPROVED protein-coding 9905 05609 274000;605313 REVIEWED 1345969 RBMX2 RNA binding motif protein, X-linked 2 X X X q26.1 129922409 129933783 + 129363624 129374998 + 129535943 129547317 + 737633;1580863;6480464 12477932 17081983;15772651;15489334;15302935;10810093;20360068;19322201 51634 Q05DU0;Q5JY83;Q9Y388 ABBA01047928;ABBA01047929;AF078865;AF151837;AK292855;AL035423;AL050405;AMYH01022973;BC003676;BC010036;BC012345;BC033750;BC040433;BC050707;BC063517;BC105582;CH471107;NM_016024 AAD34074;AAD44497;AAH03676;AAH33750;AAI05583;BAF85544;CAB43745;EAX11799;EAX11800;NP_057108;Q9Y388 Hs.740515 1686714;1699564;2110695;2122453;2136809;7187858 AL008949;DXS8291;RBMX2__6968;RH103383;STS-AA025315 CGI-79 2810411A03Rik;OTTHUMP00000024016;RNA-binding motif protein, X-linked 2 protein-coding ENSG00000134597 24282 06470 VALIDATED 1312477 RBMS2 RNA binding motif, single stranded interacting protein 2 The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008] 12 12 12 q13.3 56568736 56642636 + 55201993 55269875 + 56915609 56989980 + 1580863;6480464 8041632;15489334;14702039;12477932;8889548;1533657;16169070;21145461;20214974;22939629;22479202 5939 F5H5C8;F8VQS9;F8VV01;F8VZR4;F8W1T6;Q15434 ABBA01008426;ABBA01008427;ABBA01008428;ABBA01008429;AC090681;AC097104;AK096412;AK097342;AK125252;AK293315;AK299580;AK304540;AK308885;AL698629;AMYH01004505;AMYH01004506;BC027863;BC072679;BM929514;CF890834;CH471054;D28483;DC382164;GU228575;NM_002898 AAH27863;AAH72679;BAA05842;BAH11489;BAH13073;BAH14210;EAW96947;EAW96948;NP_002889;Q15434 Hs.505729;Hs.683360 1654262;1688269;1698140;1754633;2115446;2117100;2117327;2144982;5014019;5014063;5015867;5016478;5016781;5020274;5020946;5022578;5022651;5024272;5037552;5109281 D11S2921;D12S1881;D15S1390;D1S1423;D1S1425;D2S1254;D5S2354;D8S2279;GDB:312714;GDB:434012;L17971;L18441;RH102603;RH44533;RH80724;SHGC-132980;SHGC-58278;SHGC-67307;STS-N33267;T15358 FLJ39093;FLJ40023;FLJ43262;SCR3 OTTHUMP00000243922;OTTHUMP00000243924;OTTHUMP00000243925;OTTHUMP00000243989;RNA-binding motif, single-stranded-interacting protein 2;suppressor of CDC2 with RNA-binding motif 3 APPROVED protein-coding 9909 03860 602387 REVIEWED 1351947 RBMXP1 RNA binding motif protein, X-linked pseudogene 1 6 6 6 p12.3 49736905 49738971 - 48288513 48290596 - 48180639 48182705 - 16707624;10391206;7692398;1551662 3186 ABBA01050604;AL121573;AMYH01016334;NG_001022 HNRNP-G;HNRPG pseudo 9911 INFERRED 1605160 RBMXP2 RNA binding motif protein, X-linked pseudogene 2 9 9 9 p21.1 30617780 30619790 + 30679004 30681056 + 30688948 30690958 + 441391 ABBA01065098;AL390844;AMYH01019314;NG_004760 pseudo 23284 INFERRED 2291760 RBMXP3 RNA binding motif protein, X-linked pseudogene 3 11 11 11 q14.1 79826096 79828120 + 82194045 82195871 + 82516229 82518253 + 143543 ABBA01017369;AMYH01003839;AP001646;NG_007349 pseudo 33949 INFERRED 2291807 RBMXP4 RNA binding motif protein, X-linked pseudogene 4 4 4 4 q25 107562319 107573207 - 110486886 110497765 - 110267437 110278316 - 100132580 ABBA01063773;AC004051;AMYH01014456;NG_009740 2147373 D4S474 pseudo 34028 INFERRED 1317165 RBMS1 RNA binding motif, single stranded interacting protein 1 This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009] 2 2 2 q24.2 154740148 154834898 - 160838758 161058551 - 161128662 161350318 - 1580863;6480464 8041632;7838710;15815621;15489334;15146197;14702039;12477932;10869558;8871567;8134115;8125298;17207965;20889853;19451621;20379614;20418489;21323541;22939629;21139048;21890473;23000965;22505724;22952844 5937 B4DN88;E7EPF2;E7ETU5;P29558 ABBA01004871;ABBA01004872;ABBA01004873;ABBA01004874;ABBA01004875;ABBA01004876;AC092153;AC104598;AC131754;AC133105;AI675628;AK127157;AK225887;AK297812;AK309949;AL117617;AMYH01011207;BC012992;BC012993;BC018951;BC037862;BC051889;BC065192;BC069687;BC069706;BC069763;BC080620;BX648246;CH471058;CN296957;CN399839;D28482;D82361;GN344101;GN344105;L11289;NM_002897;NM_016836;X64652;X77494 AAH12992;AAH12993;AAH18951;AAH65192;AAH69687;AAH69706;AAH69763;AAH80620;AAX93094;AAX93095;AAX93183;AAY15005;ADQ32749;BAA05841;BAA19554;BAA19555;BAA20858;BAG60150;CAA45923;CAA54628;CAY55986;CAY55988;EAX11381;EAX11382;EAX11383;EAX11384;EAX11385;EAX11386;EAX11387;EAX11388;NP_002888;NP_058520;P29558 Hs.470412;Hs.708357 1339887;1660327;1670149;1680825;1681558;1682201;1686166;1701398;1703846;1713411;1747947;1753701;1753711;1758351;1777942;1836904;2123891;2134758 D2S2290;D6S2035;ECD19616;G66774;RH104329;RH119562;RH36475;RH68939;RH80478;RH80864;RH80872;RH93437;SHGC-107571;SHGC-107576;SHGC-148132;SHGC-79133;WI-11065;WI-17930 C2orf12;DKFZp564H0764;HCC-4;MGC15146;MGC3331;MGC70597;MGC97258;MGC97270;MGC97282;MGC99543;MSSP;MSSP-1;MSSP-2;MSSP-3;SCR2;YC1 OTTHUMP00000162903;OTTHUMP00000205156;OTTHUMP00000205157;OTTHUMP00000205158;RNA-binding motif, single-stranded-interacting protein 1;c-myc gene single strand binding protein 2;cervical cancer oncogene 4;single-stranded DNA-binding protein MSSP-1;suppressor of CDC2 with RNA-binding motif 2;suppressor of cdc 2 (cdc13) with RNA binding motif 2 APPROVED protein-coding ENSG00000153250 9907 03814 602310 REVIEWED 1351846 RBMY1A2 RNA binding motif protein, Y-linked, family 1, member A2 9598316 5941 9913 1347930 RBMY1A3P RNA binding motif protein, Y-linked, family 1, member A3 pseudogene Y Y Y p11.2 69770 75581 + 9214670 9220483 - 9154670 9160483 - 12815422;9598316 286557 ABBA01031634;AC006158;AF527837;NR_001547 Hs.567833 pseudo ENSG00000197038 18849 PROVISIONAL 1343809 RBMS3 RNA binding motif, single stranded interacting protein 3 This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 3 3 3 p24-p23 29259697 29988619 + 29297947 30021624 + 29322803 30051886 + 1580863;6480464 17903296;17586524;15489334;14702039;12477932;10675610;22267851;17903298;19654303;20379614;22747683;22957092;18029348;21844183;23259602 27303 C9J9B2;C9JIJ9;J3QT21;Q6XE24 AA428240;ABBA01024965;ABBA01024966;ABBA01024967;ABBA01024968;ABBA01024969;ABBA01024970;ABBA01024971;ABBA01024972;AC012262;AC021068;AC092795;AC092796;AC097633;AC098650;AC099048;AF023259;AK093863;AK097311;AK292789;AMYH01013051;AMYH01013052;AW779062;AY236871;AY236872;BC117315;BC143521;CA448021;CH471055;NM_001003792;NM_001003793;NM_001177711;NM_001177712;NM_014483 AAC63910;AAI17316;AAI43522;AAP75555;AAP75556;BAF85478;EAW64405;EAW64406;EAW64407;EAW64408;NP_001003792;NP_001003793;NP_001171182;NP_001171183;NP_055298;Q6XE24 Hs.221436 1337438;1652865;1654100;1665180;1667661;1677592;1707006;1710656;1714517;1715863;1730073;1769536;1769567;1775449;1784792;1784846;1878266;2109747;2128303;2129811;2138491;2150832;2171055;2180401;5093450;7186516 108YG3;1294;A009P06;D3S1609;D3S2396;D3S2981;D3S4524;D3S647;G32725;RBMS3_9544;REN9820;RH119626;RH119771;RH16621;RH92986;SGC34293;SHGC-155138;SHGC-155763;SHGC-33715;SHGC-76788;SHGC-76790;SHGC-76797;SHGC-76802;SHGC-81005;SHGC-81044 FLJ36544 OTTHUMP00000208495;OTTHUMP00000208497;OTTHUMP00000208498;OTTHUMP00000208499;OTTHUMP00000208500;OTTHUMP00000208501;RNA-binding motif, single-stranded-interacting protein 3;RNA-binding protein APPROVED protein-coding ENSG00000144642 13427 16155 605786 REVIEWED 2303888 RBMXL3 RNA binding motif protein, X-linked-like 3 X X X q23 114859140 114862608 + 114330219 114333682 + 114423963 114427431 + 6480464 16344560;14702039;15772651;22178446 139804 Q8N7X1 ABBA01053649;AK097568;AK301904;AL589786;AMYH01022853;CH471120;DB069571;NG_021299;NM_001145346 BAG63332;EAX02620;NP_001138818;Q8N7X1 Hs.376008 5493369 UniSTS:485851 CXorf55;FLJ40249;FLJ54427 OTTHUMP00000212442;RNA binding motif protein, X-linked-like 3;RNA-binding motif protein, X-linked-like-3 protein-coding ENSG00000175718 26859 06567 VALIDATED 1603234 RBMXL1 RNA binding motif protein, X-linked-like 1 This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009] 1 1 1 p22.2 87690929 87704434 - 89218710 89231104 - 89445139 89458643 - 6480464;6907045 19165527;16344560;16201836;12477932;10737800;14739461 494115 Q96E39 ABBA01045589;AL139416;AL832554;AL832785;AMYH01000777;BC012942;BF901720;CH471097;CR743094;DA010727;DA216732;DA390224;DC397531;DQ120650;NM_001162536;NM_019610 AAH12942;ABB92435;CAI46148;EAW73155;EAW73156;NP_001156008;NP_062556;Q96E39 Hs.481898 1690105;2122473;2185571;2186878 A004S46;RH93455;SHGC-75110;SHGC-75112 DKFZp547N1117;DKFZp667D0223;FLJ32614;RBM1 OTTHUMP00000216065;RNA binding motif protein, X-linked-like 1;RNA binding motif protein, X-linked-like-1;heterogeneous nuclear ribonucleoprotein G-like 1 APPROVED protein-coding ENSG00000213516 25073 17417 REVIEWED 1349852 RBMY1C RNA binding motif protein, Y-linked, family 1, member C q11.23 15489334;10749975;9598316;8269511 5942 P0DJD4 U36604;U36605;U36606;U36607;U36608;U36609;U36610 AAC16917;AAC16918;P0DJD4 RNA binding motif protein, Y chromosome, family 1, member C;RNA binding motif protein, Y-linked, family 1, member C;RNA-binding motif protein, Y chromosome, family 1 member C protein-coding 9914 1354434 RBMY1B RNA binding motif protein, Y-linked, family 1, member B This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y q11.223 22082646 22097060 + 23673224 23687672 + 15184870;12815422;12477932;9598316;8875892;8269511;10749975 378948 A6NDE4;F2Z2U1 AC010141;BC144577;NG_004832;NM_001006121 A6NDE4;AAI44578;NP_001006121 Hs.380450;Hs.725744 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 OTTHUMP00000038996;RNA-binding motif protein, Y chromosome, family 1 member B APPROVED protein-coding ENSG00000242875 23914 17958 REVIEWED 1353734 RBMY1G RNA binding motif protein, Y-linked, family 1, member G 9598316 5943 9915 1347232 RBMY1D RNA binding motif protein, Y-linked, family 1, member D This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y q11.223 22435611 22450021 - 24026223 24040633 - 15184870;12815422;12477932;9598316;8875892;8269511 378949 B7ZMD9;F2Z2U1;P0C7P1 AC007322;BC136862;BC144459;NG_004755;NM_001006120 AAI36863;AAI44460;NP_001006120;P0C7P1 Hs.380450 5018919;5020689;5020983;5124413;5125478 DYS41;G65850;RBMY;RH38683;sY627 OTTHUMP00000040532;RNA-binding motif protein, Y chromosome, family 1 member D APPROVED protein-coding ENSG00000244395 23915 17959 REVIEWED 1605123 RBMY1HP RNA binding motif protein, Y-linked, family 1, member H, pseudogene Y Y q11.223 22064693 22073611 + 23655305 23664223 + 9598316;12815422 5944 AC010141;NG_004832;U36611;U36612;U36613;U36614;U36615 AAC16919;AAC16920 1790991 sY1315 RBMY1H;YRRM APPROVED pseudo 9916 VALIDATED 4889082 RBMY1GP RNA binding motif protein, Y-linked, family 1, member G, pseudogene Y p11.2 9163100 9168197 + 9847074 100287769 AC006158;NG_027927 pseudo 100287769 1605122 RBMY2AP RNA binding motif protein, Y-linked, family 2, member A pseudogene Y Y q11.23 22482650 22494774 + 24073262 24085386 - 12815422;9598316 5945 AC007322;NG_004755 1694834 G43668 RBMY2A pseudo 9917 VALIDATED 1342986 RBMY1E RNA binding motif protein, Y-linked, family 1, member E This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y q11.223 22459153 22473562 - 24049765 24064174 - 15184870;12815422;12477932;9598316;8875892;8269511 378950 A6NEQ0;F2Z2U1;J3KPK3 AC007322;NG_004755;NM_001006118 A6NEQ0;AAI60023;NP_001006118 Hs.725744 5018919;5020689;5020983;5124413;5125478 DYS41;G65850;RBMY;RH38683;sY627 OTTHUMP00000040533;RNA-binding motif protein, Y chromosome, family 1 member E APPROVED protein-coding ENSG00000242389 23916 17960 REVIEWED 1345023 RBMY1J RNA binding motif protein, Y-linked, family 1, member J This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y q11.223 22959011 22973416 + 24549623 24564028 + 8269511;15184870;12815422;9598316;8875892 378951 J3KQ82;Q15415 ABBA01005817;ABBA01005818;AC007320;AK313597;NG_004755;NM_001006117 AAI48577;ABM85308;BAG36363;NP_001006117;Q15415 Hs.567746 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 RBMY1F OTTHUMP00000040531;RNA-binding motif protein, Y chromosome, family 1 member F/J;y chromosome RNA recognition motif 2 APPROVED protein-coding ENSG00000226941 23917 15233 REVIEWED 6480942 RBMY1KP RNA binding motif protein, Y-linked, family 1, member K, pseudogene Y 24355478 24362727 + 9847074 100874497 AC025227;NG_029412 RBMY1K pseudo 38750 INFERRED 1603656 RBMXL2 RNA binding motif protein, X-linked-like 2 This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008] 11 11 11 p15 7229213 7231427 + 7066741 7068955 + 7110165 7112379 + 17081983;15489334;15302935;12477932;12389739;10958650;10749975;21327109;21145461;19893608;20607830;22939629;18029348;21110914;19287380;22178446;21628590 27288 O75526 ABBA01028676;AC100875;AF069682;AF279289;AK292271;AMYH01003368;BC029295;BC057796;BX091666;CH471064;HC007026;HC044513;NM_014469 AAC24858;AAF82129;AAH57796;BAF84960;CBH19318;CBH30586;EAW68665;NP_055284;O75526 Hs.121605 1701482;1795980 HNRNPG-T__1197;RH104373 HNRNPG-T;HNRNPGT;HNRPGT OTTHUMP00000230008;RNA-binding motif protein, X-linked-like-2;heterogeneous nuclear ribonucleoprotein G T;hnRNP G-T;testes specific heterogenous nuclear ribonucleoprotein G T;testes-specific heterogenous nuclear ribonucleoprotein G-T;testis-specific heterogeneous nuclear ribonucleoprotein G-T APPROVED protein-coding ENSG00000170748 17886 05672 605444 REVIEWED 1352327 RBMY1F RNA binding motif protein, Y-linked, family 1, member F This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y q11.223 22724077 22738477 - 24314689 24329089 - 737633 12477932 15489334;15184870;12815422;10749975;9598316;8875892;8269511 159163 J3KQ82;Q15415 AC023342;BC030018;BC152392;NG_004755;NM_152585;U35882;X76060 AAH30018;AAI52393;ABM82125;CAA53660;NP_689798;Q15415 Hs.567746 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 MGC33094;RBMY1J;YRRM2 OTTHUMP00000040530;RNA-binding motif protein, Y chromosome, family 1 member F/J;y chromosome RNA recognition motif 2 APPROVED protein-coding ENSG00000169800 23974 15232 REVIEWED 1604234 RBMY2CP RNA binding motif protein, Y-linked, family 2, member C pseudogene Y Y q11.223 24092437 24104566 - 25683049 25695178 - 12815422 140123 AC009947;NG_004755 1694834 G43668 RBMY2 pseudo 23260 VALIDATED 1605804 RBMY2DP RNA binding motif protein, Y-linked, family 2, member D pseudogene Y Y Y q11.23 9195354 9204788 + 26677120 26689249 + 28267732 28279861 + 12815422 347598 AC006991;NG_004755 RBM;RBMY2 pseudo 23259 VALIDATED 1348556 RBMY2EP RNA binding motif protein, Y-linked, family 2, member E pseudogene Y Y Y q11.223 8253252 8259666 - 21966422 21972836 - 23557034 23563448 - 12815422;9344660 159125 ABBA01057542;ABBA01057543;AC010086;NG_004832;NR_001574;U94388 Hs.567745 pseudo ENSG00000242300 23890 VALIDATED 1348708 RBMY2FP RNA binding motif protein, Y-linked, family 2, member F pseudogene Y Y Y q11.223 9019538 9026884 - 22864392 22871740 + 24455004 24462352 + 737633;1580863;6480464 12477932 12815422;9344660 159162 ABBA01005809;ABBA01005810;AC007320;BC026077;CH878735;NG_004755;NR_002193 EAW61216 Hs.711527 5020689;5110341 DYS700;G65850 MGC26641 pseudo ENSG00000243040 23891 PROVISIONAL 1606648 RBMY2BP RNA binding motif protein, Y-linked, family 2, member B pseudogene Y Y q11.223 23202691 23210753 + 24793303 24801365 + 12815422;9598316;22990118 375850 Q15381 AC008175;AC016694;AF026563;NG_004755;U36616;U36617;U36618;U36619;U36620;U36621 AAC16921;AAC16922 RBMY2B pseudo 9918 VALIDATED 1344398 RBMY2GP RNA binding motif protein, Y-linked, family 2, member G pseudogene Y Y Y p11.2 3007113 3022508 - 6256129 6271724 + 6196230 6211625 + 12815422 378952 AC006335;NG_003081 1751991;1753089 SHGC-105961;SHGC-79815 pseudo 23892 INFERRED 1354231 RBMY2HP RNA binding motif protein, Y-linked, family 2, member H pseudogene Y Y Y p11.2 1675693 1682203 + 7599409 7606119 - 7539509 7546019 - 12815422 378953 ABBA01060147;ABBA01060148;AC007274;NG_003082 pseudo 23893 INFERRED 1344730 RBMY2JP RNA binding motif protein, Y-linked, family 2, member J pseudogene Y Y Y p11.2 1209044 1226548 - 8055064 8072770 + 7995165 8012671 + 12815422 378955 AC016749;NG_003083 1753515;2187959 G66125;SHGC-107423 pseudo 23918 INFERRED 1345287 RBMY2KP RNA binding motif protein, Y-linked, family 2, member K pseudogene Y Y Y p11.2 1074528 1089498 + 8192117 8207287 - 8132217 8147187 - 12815422 140100 ABBA01060216;ABBA01060217;ABBA01060218;ABBA01060219;AC051663;NG_003074 pseudo 23888 INFERRED 1350122 RBMY2MP RNA binding motif protein, Y-linked, family 2, member M pseudogene Y Y Y p11.2 437341 449467 - 8832158 8844484 + 8772259 8784385 + 12815422 140101 ABBA01060275;ABBA01060276;AC007967;NG_003075 pseudo 23889 INFERRED 1353982 RBMY2NP RNA binding motif protein, Y-linked, family 2, member N pseudogene Y Y Y p11.2 3007374 3011923 - 10278664 10283386 + 9669027 9673576 - 12815422;9847074 378956 ABBA01031143;AC006986;AC010891;NG_003084 1751991;1753089 SHGC-105961;SHGC-79815 pseudo 23919 INFERRED 1349812 RBMX RNA binding motif protein, X-linked This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009] X X q26.3 135783285 135790605 - 135951353 135962939 - 1580863;6480464;6907045 10332027;7692398;16189514;17353931;12226669;18541147;18445477;17387044;17081983;16964243;16677675;16552754;16491274;15782174;15772651;15489334;15302935;15144186;14702039;12477932;12388589;12165565;11991638;11420617;11101529;10749975;10391207;10391206;8889549;1551662;11118435;14559993;21145461;20562859;16159877;20211142;16344560;17643375;19615732;22939629;12761049;19282290;21182205;16196087;20360068;21081666;17332742;21110914;22558309;19471022;21139048;21890473;21906983;21907836;20639865;21840245;22178446;22344029;21628590;22446626;22586326;21988832;22113938;22365833;22623428;22751105;23000965;23151878;16230076;19738201;21642987;21963094;21853274;22505724;22797925;22832223;23084401 27316 B3KRG5;H0Y6E7;H3BNC1;H3BR27;H3BT71;H3BUY5;P38159 AA160187;ABBA01065759;ABBA01065760;ABBA01065761;ABBA01065762;ABBA01065763;AF266723;AK091520;AK096015;AK097941;AK304573;AK304868;AK309911;AL683813;AMYH01023051;AY464692;BC006550;BC007435;BM147410;BM993214;BU587845;BX647131;CH471150;DA925805;DC337568;NG_012918;NM_001164803;NM_002139;NR_028476;NR_028477;Z23064 AAH06550;AAH07435;AAK58567;AAR28036;ABM84137;ABM87539;BAC04674;BAG52377;BAG65364;BAG65606;CAA80599;EAW88453;EAW88454;EAW88455;EAW88456;EAW88457;NP_001158275;NP_002130;P38159 Hs.380118;Hs.710162 1728915;2146681;2156965;5021209 DXS7491;G42696;RH45175;WI-11365 HNRNPG;HNRPG;RBMXP1;RBMXRT;RNMX;hnRNP-G OTTHUMP00000024132;RNA binding motif protein, X chromosome;RNA-binding motif protein, X chromosome;glycoprotein p43;heterogeneous nuclear ribonucleoprotein G;hnRNP G APPROVED protein-coding ENSG00000147274 9910 02186 300199 REVIEWED 1345272 RBMY2OP RNA binding motif protein, Y-linked, family 2, member O pseudogene Y Y Y p11.2 3127497 3135793 + 10399055 10407551 + 9789156 9797452 + 12815422 379005 ABBA01031149;AC006986;NG_003085 pseudo 23894 INFERRED 1347320 RBMY2QP RNA binding motif protein, Y-linked, family 2, member Q pseudogene Y Y Y p11.2 3198168 3211242 - 10469725 10482999 - 9859825 9872899 - 12815422 379006 ABBA01031155;ABBA01031156;AC006987;NG_003086 pseudo 23895 INFERRED 1604939 RBMY2SP RNA binding motif protein, Y-linked, family 2, member S pseudogene Y Y q11.223 21882435 21890709 + 23473047 23481321 + 12815422 379007 AC010086;NG_004832 2175450;5116948 G18231;sY946 pseudo 23896 VALIDATED 1604936 RBMY2VP RNA binding motif protein, Y-linked, family 2, member V pseudogene Y Y q11.223 22937101 22943631 + 24527713 24534243 + 12815422 379010 AC007320;NG_004755 pseudo 23899 VALIDATED 1604937 RBMY2UP RNA binding motif protein, Y-linked, family 2, member U pseudogene Y Y q11.223 22753857 22757412 + 24344469 24348024 + 12815422;9847074 379009 AC023342;AC025227;NG_004755 pseudo 23898 VALIDATED 1604938 RBMY2TP RNA binding motif protein, Y-linked, family 2, member T pseudogene Y Y q11.222 22001598 22008621 - 23592210 23599233 - 12815422;8875892 379008 AC010086;NG_004832;U38459 AAB49829 pseudo 23897 VALIDATED 1604935 RBMY2WP RNA binding motif protein, Y-linked, family 2, member W pseudogene Y Y q11.223 23317859 23325425 - 24908471 24916037 - 12815422 379011 AC010080;NG_004755 pseudo 23900 VALIDATED 1604933 RBMY2YP RNA binding motif protein, Y-linked, family 2, member Y pseudogene Y Y q11.223 25822015 25829580 + 27412627 27420192 + 12815422 379024 AC006386;NG_004755 pseudo 23902 VALIDATED 1349648 RBMY3AP RNA binding motif protein, Y-linked, family 3, member A pseudogene Y Y Y p11.2 3557425 3561857 - 10058330 10062762 - 9448330 9452762 - 12815422;9344660 64593 AC025819;NR_001573;U94385;U94386 Hs.404172 RBMY3P;RBMY4P;SPATA14 pseudo 23286 PROVISIONAL 1604934 RBMY2XP RNA binding motif protein, Y-linked, family 2, member X pseudogene Y Y q11.223 24951612 24959168 - 26542224 26549780 - 12815422 379012 AC016698;NG_004755 pseudo 23901 VALIDATED 1342867 RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008] Y Y q11.223 22106178 22120600 + 23696799 23711212 + 1580863;6480464 12815422;8269511;9598316;17881721;17453684;17318228;17001072;15489334;15184870;12477932;12376959;11869379;11149922;10823932;10749975;9547301;8875892;19893608;20016065;17207965;12165565;21422736;20462248;20301513;21044950;23385816;22190034 5940 F2Z2U1;J3QTP2;P0DJD3 ABBA01049542;AC010141;BC047768;BC070298;BC146853;BU568309;BX119894;NG_004832;NG_012805;NM_005058;U37766;X76059 AAB49819;AAH47768;AAH70298;AAI46854;ADQ32030;CAA53659;NP_005049;P0DJD3 Hs.380450 5018919;5020689;5020983;5107381;5124413;5125478 DYS41;G65850;G65856;RBMY;RH38683;sY627 MGC181956;RBM;RBM1;RBM2;RBMY;RBMY1C;YRRM1;YRRM2 OTTHUMP00000040529;RNA binding motif protein 2;RNA binding motif protein, Y chromosome, family 1, member A1;RNA binding protein;RNA-binding motif protein 1;RNA-binding motif protein 2;RNA-binding motif protein, Y chromosome, family 1 member A1;RNA-binding motif protein, Y chromosome, family 1 member A1/C;hRBMY;y chromosome RNA recognition motif 1 APPROVED protein-coding ENSG00000234414 9912 02450 400006 REVIEWED 735986 RBP3 retinol binding protein 3, interstitial Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008] 10 10 q11.2 48001493 48010997 - 48381487 48390991 - 1580863;6480464;6893650 21447403 11511084;11161734;8702792;3827838;3743780;3455009;3170584;2907505;2792773;2402443;2303470;2542268;19193895;19074801;18266969;15713799;12477932;19823802;21067480;21613504;21697133;20301590;15710417;23486466 5949 P10745;Q8IXN0 AB593121;ABBA01000027;AL731561;AMYH01002505;BC039844;CH471251;J03912;J05253;M22453;M33875;NG_029718;NM_002900;X53044 AAA36126;AAA59188;AAA59453;AAC18875;AAH39844;BAJ84061;CAA37213;EAW50659;NP_002891;P10745 Hs.591928 1667281;1689400;1689542;1741107;2150933;2219614 GDB:177806;RBP3__5661;RH11133;RH29;RH80959;SGC31490 D10S64;D10S65;D10S66;IRBP;RBPI;RP66 OTTHUMP00000019536;interphotoreceptor retinoid-binding protein;interstitial retinol-binding protein;retinol-binding protein 3;retinol-binding protein 3, interstitial APPROVED protein-coding ENSG00000107618 9921 01581 180290;615233 REVIEWED 732391 RBP1 retinol binding protein 1, cellular This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 3 3 q23 140718970 140741175 - 139236276 139258671 - 1580863;6480464;6893650;6484672;6771322 21447403;21621639;15950969 19052772;18343808;17593084;15865448;15608670;15451426;15175163;15094224;15009723;12883492;12826154;12631600;12477932;12111198;11274389;11118440;10203351;9858824;9452451;9005841;8889548;7666002;7556191;3472205;3356192;2992469;2856408;1654334;1332671;1322170;21382444;19965581;19913121;20628086;19288010;20403997;21067480;16479010;21042705;21148318;21368206;18193082;22945948;22049223;21139048;22449228 5947 H0YAK8;P09455 ABBA01059063;AC046134;AK290315;AK309492;AMYH01013538;BC121052;BU734286;BX092411;CH471052;CR541979;CR542005;DC356836;DC394326;M11433;M36809;NM_001130992;NM_001130993;NM_002899;X07437;X07438 AAA35714;AAA60257;AAI21053;ACE86414;ACE87090;BAF83004;CAA30318;CAG46776;CAG46802;EAW79035;NP_001124464;NP_001124465;NP_002890;P09455 Hs.529571 1775153;1855922;1858325 D3S3890;SHGC-57604;WI-16259 CRABP-I;CRBP;CRBP1;CRBPI;RBPC CRBP-I;OTTHUMP00000208586;OTTHUMP00000217139;OTTHUMP00000225120;cellular retinol-binding protein I;retinol-binding protein 1;retinol-binding protein 1, cellular APPROVED protein-coding ENSG00000114115 9919 07036 180260 REVIEWED 1347940 RBPJP1 RBPJ pseudogene 1 9 p13-p12 65712821 65713938 + 9290259;8406481;7873751 100310842 L07873;NG_013295 IGKJRBP1;RBPSUHP1 recombining binding protein suppressor of hairless (drosophila) pseudogene 1 pseudo 5725 INFERRED 1345408 RBPJP2 RBPJ pseudogene 2 9 9 q13 65712821 65713938 + 65972985 65975258 + 8406481;9290259;7873751;8406481;9290259 3517 AMYH01020378;CR788267;NG_001151 IGKJRBP2;RBPSUHP2 APPROVED pseudo 5726 INFERRED 1351653 RBPJP3 RBPJ pseudogene 3 p13 7873751;17361108 58164 L34543;NG_001292 K2;RBPSUHP3 recombining binding protein suppressor of hairless (drosophila) pseudogene 3 pseudo 13686 INFERRED 1349034 RBPJP4 RBPJ pseudogene 4 q13 7873751 58163 L34544;NG_001291 K7;RBPSUHP4 recombining binding protein suppressor of hairless (drosophila) pseudogene 4 pseudo 13687 INFERRED 2792835 RBPJP5 RBPJ pseudogene 5 9 p12 41884114 41886385 - 100288841 BX664615;NG_013296 pseudo 37485 INFERRED 1348730 RBP7 retinol binding protein 7, cellular Due to its chemical instability and low solubility in aqueous solution, vitamin A requires cellular retinol-binding proteins (CRBPs), such as RBP7, for stability, internalization, intercellular transfer, homeostasis, and metabolism.[supplied by OMIM, May 2004] 1 1 1 p36.22 9168283 9187512 + 9979861 9998665 + 10057255 10076078 + 1580863;6480464 16710414;15489334;12477932;12177003;17207965 116362 B1AQ60;Q96R05 ABBA01035582;ABBA01035583;ABBA01035584;AF399927;AK312027;AL590639;AL603962;AMYH01000242;AY145438;BC033883;BC063013;CH471130;NM_052960 AAH33883;AAH63013;AAK85409;AAN61071;ADQ33098;BAG34964;EAW71637;EAW71638;NP_443192;Q96R05 Hs.422688 5037552 D8S2279 CRBP4;CRBPIV;MGC70641 CRABP-IV;CRABP4;OTTHUMP00000001729;OTTHUMP00000001730;cellular retinoic acid-binding protein 4;cellular retinoic acid-binding protein IV;putative cellular retinol-binding protein CRBP IV;retinoid binding protein 7;retinoid-binding protein 7 APPROVED protein-coding ENSG00000162444 30316 16355 608604 PROVISIONAL 2974955 RBPJP6 RBPJ pseudogene 6 9 9 p11.2 44411966 44413411 + 44471796 44474066 + 643198 BX088651;NG_013297 pseudo 37486 INFERRED 2797096 RBPJP7 RBPJ pseudogene 7 9 9 p11.2 46702123 46753969 + 46912353 46914628 + 100133122 BX005266;NG_013298 pseudo 37487 INFERRED 734415 RBP2 retinol binding protein 2, cellular RBP2 is an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. RBP2 may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Jul 2008] 3 3 q23 140654416 140678042 - 139171726 139195352 - 1580863;6480464;6484679 21718801 1654334;2992469;19147806;18076076;15489334;12477932;12016134;11274389;10072590;7657783;3029082;1322170;1115525;19850045;20403997;17207965;1542003;15583024;20332121;23224553;21382444;15803180;18029348 5948 D6RB89;D6RGE6;P50120 ABBA01059063;AC097103;AI076320;AK291978;AMYH01013538;AW772327;BC069296;BC069361;BC069396;BC069424;BC069447;BC069469;BC069513;BC069522;BX282005;CH471052;NM_004164;U13831 AAC50162;AAH69296;AAH69361;AAH69396;AAH69424;AAH69447;AAH69469;AAH69513;AAH69522;ADQ32877;BAF84667;EAW79036;NP_004155;P50120 Hs.655516 1299921;1647983;1794422;5121002 D3S1764;PMC31117P1;SHGC-37045;STS-T63266 CRABP-II;CRBP2;CRBPII;RBPC2 CRBP-II;OTTHUMP00000217141;OTTHUMP00000217142;cellular retinol-binding protein II;retinol-binding protein 2;retinol-binding protein 2, cellular APPROVED protein-coding ENSG00000114113 9920 07184 180280 REVIEWED 7246835 RBPMS-AS1 RBPMS antisense RNA 1 16341674 100128750 AA931221;ABBA01023666;ABBA01023667;AC109329;AK057935;AMYH01018618;BM845627;NR_046205 Hs.126813 2112276;2112312 D8S2248;D8S2274 miscrna ENSG00000254109 48721 VALIDATED 1344722 RBP5 retinol binding protein 5, cellular 12 12 12 p13.31 8852489 8857661 - 7167554 7172733 - 7276280 7281466 - 1580863;6480464 19131338;17497168;15489334;14702039;12479570;12477932;11274389;8125298 83758 F5H2Q2;P82980 ABBA01012196;AC018653;AC233309;AF212239;AK096947;AK223378;AK311977;AMYH01004213;AY007436;BC029355;CH471116;NM_031491 AAG09617;AAH29355;AAK14925;ABM83539;ABM86779;BAD97098;BAG34916;EAW88681;EAW88682;NP_113679;P82980 Hs.246046 1657512;1693914;1700390;1775744;1794424;2123283;2125186;2180876;5093754 A009W06;D12S1953;G32904;G42647;PMC31117P2;RH103815;RH17505;RH78707;SGC34687 CRBP-III;CRBP3;CRBPIII HRBPiso;OTTHUMP00000238163;cellular retinol-binding protein III;putative cellular retinol-binding protein CRBP III;retinol-binding protein 5;retinol-binding protein 5, cellular protein-coding ENSG00000139194 15847 17961 611866 PROVISIONAL 1343007 RBS Roberts syndrome 5951 9924 1349749 RBPMSLP RNA binding protein with multiple splicing-like pseudogene 21 q11 17116323 17116647 - 10830953 54032 ABBA01057088;AJ010597;AMYH01012142;NG_028762 pseudo 9923 INFERRED 735251 RBP4 retinol binding protein 4, plasma This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008] 10 10 q23-q24 95341583 95350983 - 95351593 95360993 - 1601615;1601613;1580863;2311651;2302016;6480464;6484671;6484672;7240710 17174134;9888420;19506831;18401839;21782034;21621639 17456573;12593674;21406189;571335;10232633;18466349;17003346;10944490;16034410;5132677;19369430;19346786;19303000;19288010;19287041;19224430;19217438;19195734;19190263;19169049;19158194;19155083;19147488;19122345;19114616;19088257;19053019;19046959;19023195;19021760;19003725;18980783;18977339;18973209;18937078;18854400;18852328;18838136;18796616;18783798;18752671;18719670;18710473;18641048;18588869;18506842;18496666;18493106;18492757;18445670;18437353;18426863;18426837;18426814;18397979;18390799;18381580;18316031;18239568;18199128;18081728;18052678;18029348;17957146;17904683;17890490;17728376;17686833;17661007;17639305;17630267;17618858;17595259;17575262;17568782;17550959;17526940;17405846;17337499;17299074;17259477;17164313;17065684;17006670;16156801;15649951;15489334;15164054;14718574;12716133;12477932;12237133;11853533;11058747;10052934;8089102;7666002;6942701;6540172;6316270;3559267;3525470;3013795;2998779;2928844;2444024;2217163;1623143;574085;573217;19537932;20610143;20224248;20625434;20646597;20376890;20389103;21458418;22863748;20503483;20929509;19765959;12228058;15009723;16385451;18782570;19339013;19403191;19501859;19501863;19525859;19556974;19573524;19589139;19671994;19708829;19709697;19766271;19794289;19851303;19857477;19875582;19893506;19897788;19900011;19949653;20058618;20097162;20146659;20233518;986177;19820404;20819415;21106915;20798476;20436266;21104585;20849357;21085476;21039728;21176857;21173508;22971483;23071093;22785609;23087360;22086013;22491740;22855337;21383997;21617096;21299359;21164503;21600576;20950077;23020231;20932285;21655067;21223811;18624398;21886308;20530491;21645024;21821833;23145084;23153527;23189188;21939650;22068556;21817822;22308842;21835764;21609194;21741059;22020625;22151390;22205567;22253430;21878437;22023042;22308028;22397743;22426023;23073835;23105095;23119072;23129325;22878527;23074124;23584360;22685600;22800884;22826435 5950 P02753;Q5VY30 ABBA01021866;AF025334;AF025335;AL356214;AMYH01002960;BC020633;BX495987;CH471066;NG_009104;NM_006744;X00129;X02775;X02824 AAC02945;AAC02946;AAH20633;ABM82307;ABM85484;CAA24959;CAA26553;CAB46489;EAW50065;EAW50066;EAW50067;EAW50068;NP_006735;P02753 Hs.50223 1680853;1681277;1781940;1847458;2180469;2191505 D10S2145;MARC_24240-24241:1032810986:5;RH80160;RH93967;SHGC-132033;SHGC-170 RDCCAS OTTHUMP00000020114;OTTHUMP00000020115;OTTHUMP00000020116;PRBP;RBP;plasma retinol-binding protein;retinol binding protein 4;retinol-binding protein 4;retinol-binding protein 4, interstitial APPROVED protein-coding ENSG00000138207 9922 01580 180250;615147 REVIEWED 1312429 RBPJL recombination signal binding protein for immunoglobulin kappa J region-like This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 q12-q13.1 40644024 40654993 + 43368905 43379878 + 43935491 43946464 + 1580863;6480464;6907045 9929984;16354684;12477932;11780052;9111338;21832049;16344560 11317 Q5QPV1;Q9UBG7 AB024964;AB026048;AB027710;ABBA01052660;AL021578;AMYH01011937;BC030213;BM311999;CA950939;CH471077;DA045470;NM_001281448;NM_001281449;NM_014276 AAI52896;AAI56876;BAA86121;BAA87051;BAA88232;EAW75863;EAW75864;EAW75865;NP_001268377;NP_001268378;NP_055091;Q9UBG7 Hs.248217;Hs.278489 2108415 RBPSUHL_9260 RBP-L;RBPSUHL;SUH;SUHL OTTHUMP00000031708;OTTHUMP00000031709;OTTHUMP00000031710;recombining binding protein suppressor of hairless (drosophila)-like;recombining binding protein suppressor of hairless-like protein;transcription factor RBP-L APPROVED protein-coding 13761 10187 REVIEWED 1344319 RCA1 renal carcinoma, familial, associated 1 7240710 7690964 9929 144700 1321529 RBPJ recombination signal binding protein for immunoglobulin kappa J region The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Also, this protein can bind specifically to the recombination signal sequence of immunglobulin kappa type J segments. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2011] 4 4 p15.2 25930430 26042376 + 26321332 26436753 + 1581297;2302204;2306423;6480464;6484113;6907045 10600520;17761886;15247148 9874765;10713164;8406481;19240061;19237563;19147558;18332109;18239137;18155729;17513780;17513037;17434929;17284587;17245125;17070841;17055026;16873269;16530044;16439682;16399505;16378632;16354684;16287852;15987768;15710417;15489334;15194757;15187023;14702039;14701863;14645224;14611647;14570916;12832621;12477932;12374742;11748221;11518718;11509665;11404076;10747963;10637481;10508479;9694793;9290259;9111040;9032325;8895530;8749394;7651391;7625272;2556644;10644367;12644465;15546612;8676443;16763620;19247952;19487031;19776126;19838210;19969318;20006367;20028974;20346360;20379614;20453842;10708423;20231316;20511547;23022380;14999091;23103515;21440926;21518914;16510869;18663143;21507979;21558417;21832049;21737748;8889548;22325781;22100894;22279058;22379092;22366521;22302987;22915591;21880753;21900206;21991380;19322201;17636029;22279105;19800882;22253595;21820430;17526737;22883147;11997524;21150319;21988832;23365452;22792167;19939918 3516 D6R927;D6R946;D6R9K5;D6R9X3;D6RA45;D6RAT2;D6RB37;D6RBQ8;D6RCM1;D6RE93;D6REC2;D6REP3;D6RF98;D6RIV8;D6RIZ8;H0Y8R3;Q06330 ABBA01032721;ABBA01032722;ABBA01032723;ABBA01032724;ABBA01032725;ABBA01032726;AC093637;AC097109;AF086058;AK056944;AK126357;AK302230;AK303244;AK311419;AL600045;AMYH01014074;AMYH01014075;BC020780;BC053531;BC053568;BC064976;BE269143;BM472788;BM555733;BM560796;BM680668;BQ216033;CD653684;CH471069;D14041;DC361185;DC389691;L07872;L07874;L07875;L07876;L08904;NG_030343;NM_005349;NM_015874;NM_203283;NM_203284;Z36843 AAA16253;AAA16254;AAA16356;AAA60258;AAA91836;AAH20780;AAH64976;ABZ92014;ACE87806;ACT64469;BAA21773;BAG63584;BAH13924;EAW92846;EAW92847;EAW92848;EAW92849;NP_005340;NP_056958;NP_976028;NP_976029;Q06330 Hs.479396 1645139;1670760;1673434;1677712;1695136;1754719;2145722;2154171;2166859;2180365;2218802;5015861;5024609;5111933;7185938 D10S16;D4S858;G43168;G48208;RBPSUH_4000;RH35837;SHGC-133079;SHGC-59196;SHGC-59198;SHGC-64083;SHGC-67311;SHGC-67732;SHGC-67733;STS-T67414 AOS3;CBF1;IGKJRB;IGKJRB1;KBF2;MGC61669;RBP-J;RBPJK;RBPSUH;SUH;csl CBF-1;H-2K binding factor-2;OTTHUMP00000123439;OTTHUMP00000123440;OTTHUMP00000123441;OTTHUMP00000217971;OTTHUMP00000217972;OTTHUMP00000217973;OTTHUMP00000218678;RBP-J kappa;RBP-JK;immunoglobulin kappa J region recombination signal binding protein 1;j kappa-recombination signal-binding protein;recombining binding protein suppressor of hairless;recombining binding protein suppressor of hairless (drosophila);renal carcinoma antigen NY-REN-30;suppressor of hairless homolog APPROVED protein-coding ENSG00000168214 5724 00920 147183;614814 REVIEWED 1351025 RBPMS2 RNA binding protein with multiple splicing 2 15 15 15 q22.31 41909544 41945178 - 62819146 62854823 - 65032093 65067770 - 6480464 14702039;17986458;12477932;21890473;22683258 348093 A2RRG0;Q6ZRY4 ABBA01038873;AC091582;AC100830;AK124123;AK127873;AMYH01006712;AY369207;BC131612;BC148208;CH471082;NM_194272 AAI31613;AAI72373;AAQ73311;BAC87172;EAW77693;NP_919248;Q6ZRY4 Hs.436518 2118246 RH44199 RNA-binding protein with multiple splicing 2 protein-coding ENSG00000166831 19098 18601 PROVISIONAL 1604740 RC3H1 ring finger and CCCH-type domains 1 RC3H1, or roquin, encodes a highly conserved member of the RING type ubiquitin ligase protein family (Vinuesa et al., 2005 [PubMed 15917799]). The roquin protein is distinguished by the presence of a CCCH zinc finger found in RNA-binding proteins, and localization to cytosolic RNA granules implicated in regulating mRNA translation and stability.[supplied by OMIM, Mar 2008] 1 1 1 q25.1 147009820 147071680 - 172166975 172228833 - 173900352 173962210 - 6480464 16710414;15917799;14702039;22685317;19217324;12477932;22939629;20467438;23825522 149041 Q5TC82 AB095945;ABBA01027891;ABBA01027892;ABBA01027893;ABBA01027894;AK093501;AK122948;AL121983;AL136170;AMYH01001505;AMYH01001506;AY726570;BC136784;BC144408;BX537597;CH471067;NM_172071 AAI36785;AAI44409;BAC04186;BAC23121;BAG53813;EAW90972;NP_742068;Q5TC82 Hs.30258 1695402;1727437;1750279;1778326;2142727;2147627;2152161;5022651 D11S2921;D1S2558;G34833;G62976;RH47358;SHGC-112502;SHGC-36961;SHGC-68518 KIAA2025;RNF198;ROQUIN;RP5-1198E17.5 OTTHUMP00000035392;OTTHUMP00000035394;RING finger and C3H zinc finger protein 1;RING finger protein 198;probable E3 ubiquitin-protein ligase Roquin;ring finger and CCCH-type zinc finger domains 1;roquin APPROVED protein-coding ENSG00000135870 29434 13913 609424 VALIDATED 5509630 RCAN3AS RCAN3 antisense 1 p36.11 24822823 24828850 - 21042787;21961037 100750325 ABBA01059905;AL031431;AL034582;AMYH01000369;HQ317425;HQ317448;NR_045407;NR_045408;NR_045409 Hs.399958 miscrna 39009 VALIDATED 1342648 RBPMS RNA binding protein with multiple splicing This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 8 8 8 p12 29200833 29388215 + 30361486 30549276 + 30241944 30429734 + 1580863;6480464 8855282;16189514;16713569;15489334;15146197;14759258;14702039;12477932;17099224;20379614;22234250;22174390;23088713 11030 B4E3T4;E5RFP4;E5RJ31;E5RJD7;F5H357;H0YBU9;H0YC46;Q93062 ABBA01023663;ABBA01023664;ABBA01023665;ABBA01023666;AC011204;AC102945;AC109329;AI025136;AK024192;AK057533;AK098281;AK304858;AK310533;AMYH01018618;BC003608;BC063494;BC092476;BE733116;BG480355;BX097929;CA425568;CD518168;CH471080;CN360712;CX165198;CX781149;D84107;D84108;D84109;D84110;D84111;N88549;NG_029534;NM_001008710;NM_001008711;NM_001008712;NM_006867 AAH03608;AAH92476;BAA12225;BAA12226;BAA12227;BAA12228;BAA12229;BAG65596;EAW63451;EAW63453;EAW63454;EAW63460;EAW63462;NP_001008710;NP_001008711;NP_001008712;NP_006858;Q93062 Hs.334587 1335283;1653100;1674165;1699718;1736708;2112020;2112026;2112036;2112070;2112072;2112246;2112250;2112278;2112280;2112282;2112284;2112286;2112292;2112294;2112318;2112320;2112350;2133746;2145181;2175330;5037512;5037552 D8S1445;D8S2142;D8S2148;D8S2154;D8S2160;D8S2198;D8S2200;D8S2215;D8S2238;D8S2239;D8S2243;D8S2244;D8S2245;D8S2246;D8S2247;D8S2262;D8S2264;D8S2279;D8S2280;D8S2281;D8S339;G32178;RH103464;RH45543;RH68904;SHGC-30104;SHGC-34085 FLJ32971;HERMES OTTHUMP00000225128;OTTHUMP00000225369;OTTHUMP00000225370;OTTHUMP00000225371;OTTHUMP00000225378;RBP-MS;RNA-binding protein with multiple splicing;heart and RRM expressed sequence APPROVED protein-coding ENSG00000157110 19097 11870 601558 REVIEWED 1312502 RC3H2 ring finger and CCCH-type domains 2 9 9 9 q34 96260078 96315869 - 124651553 124707383 - 125611732 125667562 - 6480464 10938276;15489334;14702039;12477932;8125298;19549727;19322201;22493164 54542 A6NHN2;H0Y5D9;Q4VXB0;Q4VXB2;Q9NWN9 ABBA01043717;ABBA01043718;AC007066;AF255303;AF255304;AK000308;AK000720;AK027042;AK226010;AL359512;AL833177;AL834431;AMYH01021694;AW291376;BC011688;BC044642;BU783286;CH471090;NM_001100588;NM_018835 AAG00432;AAG00433;AAH11688;AAH44642;BAA91073;BAA91340;BAB15634;CAD39091;CAI46182;EAW87547;EAW87548;EAW87549;EAW87550;EAW87551;NP_001094058;NP_061323;Q9HBD1 Hs.533499 2170438 STS-AA007369 FLJ20301;FLJ20713;MGC52176;MNAB;RNF164 OTTHUMP00000022076;OTTHUMP00000022077;RING finger and CCCH-type zinc finger domain-containing protein 2;RING finger protein 164;membrane associated DNA binding protein;membrane-associated nucleic acid binding protein;membrane-associated nucleic acid-binding protein;ring finger and CCCH-type zinc finger domains 2 APPROVED protein-coding ENSG00000056586 21461 14726 615231 VALIDATED 7241791 RCBTB2P1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1 100130253 ABBA01021953;AL358532;AMYH01002933;NG_022152 1787814 SHGC-173277 pseudo 45167 INFERRED 1318229 RBX1 ring-box 1, E3 ubiquitin protein ligase This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010] 22 22 q13.2 39677331 39698614 + 41347351 41369019 + 1559296;1559277;6480464;6483358;6907045 15966899;15021886;19364912 16344560;19250909;14564014;15781449;19509229;18826954;18805092;18723677;18332868;17353931;17217622;17028207;16678110;16503656;15601839;15601820;15489334;15461802;14960280;14739464;14702039;12732143;12609982;12504026;12481031;12477932;12149480;12140560;11961546;11956208;11717410;11675391;11384984;11359933;11337588;11311237;11027288;10713156;10643962;10591208;10579999;10531037;10230407;10230406;10213692;10213691;18279656;18593899;18429817;12628165;15448697;15574593;16714087;17332328;17360488;18660753;18809579;19112177;21640084;21828050;22474075;22553175;22558124;22748924;22912744;15983046;16009132;16123592;16142236;16325183;16357137;16473935;16547496;16759355;15103331;17046835;17098746;17183367;17429597;17543862;18794347;19723642;12604794;12706828;21130766;10648623;20452971;15118074;15452136;15965468;16410731;20086098;12048197;21832049;23085759;23086937;11861641;21115485;22863883;10748083;11245432;11483504;21300445;17205132;17132228;19327355;19818716;19935701;20027226;20865015;21577200;21778237;16123585;18381890;19557001;20223979;20368362;20389280;20421418;20663873;20832730;20864537;21900206;22118460;22118674;22157821;18775313;19287380;19509332;19933270;20551172;20870715;21765416;22537386;22570418;17636018;22405651;18239684;18247557;21572392;21840486;21988832;22448038;23000965;23274085;23297342;23322298;23357576;23370391;23387299;23401859;23453757;23455478;21139048;21890473;21098278;12565873;12684064;12904573;15361859;16261165;17069461;17079684;18203720;19193609;19322201;19398581;19762597;20638939;21169563;21205095;21487039;21822215;22388891;22767593;22822056;22936669;23478441;23589337;23607312;12504025;16260596;19256485;22493164;23609182;11463388;11565034;11574546;12435635;12813041;12840033;12925736;14532120;14578910;14676825;15107402;15327770;16275327;16322693;16338364;16856496;16861890;17116465;17452440;17609381;17965458;18765672;18789977;18851830;19240029;19295130;19412162;19581926;19995937;20160477;20174454;20181953;20181957;20353940;20596027;20625400;20852628;20854419;21220517;21226479;21228219;21242966;21807946;21841822;22017877;22113614;22323446;22334663;22505724;22669845;22711876;22952844;23045529;22935614 9978 P62877 ABBA01055612;ABBA01055613;ABBA01055614;AF085906;AF140598;AF142059;AK090764;AK315722;AL080242;AMYH01012796;AY099360;BC001466;BC017370;CH471095;CR456560;DA353856;DN602016;GM863522;NM_014248 AAD29715;AAD30146;AAH01466;AAH17370;AAM21718;BAG38078;CAG30446;CAK54591;CAK54890;CAT16469;EAW60402;EAW60403;NP_055063;P62877 Hs.474949 2117491 SHGC-34633 BA554C12.1;FLJ60363;MGC13357;MGC1481;RNF75;ROC1 E3 ubiquitin-protein ligase RBX1;OTTHUMP00000199764;RING box protein 1;RING finger protein 75;RING-box protein 1;ZYP protein;regulator of cullins 1 APPROVED protein-coding 9928 06794 603814 REVIEWED 735348 RCAN1 regulator of calcineurin 1 The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.12 34810652 34909252 - 35888782 35987382 - 734902;1580889;1581652;1580863;6480464 12515860;11483593;16415348 18056702;15935327;8595418;19619541;19458618;19331211;19306109;19270310;19074885;18575781;18485898;18321953;18294449;18180251;17610901;17596961;17565986;17331188;17062574;16919501;16627481;16442855;16406492;16231093;16126726;17910944;17693409;16109302;15489334;15448146;15358155;15263820;15256217;15016650;14702039;12809556;12477932;12225619;12063245;10861295;10830953;10722714;9325060;9110174;8619474;15264020;19509306;19716405;19755121;19819266;19926569;20008143;20298200;20379614;16344560;17207965;15009650;19332797;21838211;21216952;21172821;21832049;23317802;17114339;18840614;21965663;21680892;22256743;22426484;21876249;22293192;23028325;23185487;22863780;23038757;23118980 1827 E9PD55;Q6FGP2;Q9BU69 ABBA01057368;AF303449;AF400429;AK055845;AK092184;AK131569;AK293293;AK299444;AMYH01012215;AMYH01012216;AP000326;AP000327;AY325903;BC002864;BT007363;BX419260;CH471079;CR456878;CR542065;DA503835;NG_007071;NM_004414;NM_203417;NM_203418;U28833;U53821;U85265;U85266;U85267 AAB81557;AAB84370;AAB84371;AAB84372;AAF21218;AAG40774;AAH02864;AAK92478;AAP36027;AAP96743;ADQ32824;BAD18702;BAG52494;BAH11486;BAH13035;CAG33159;CAG46862;EAX09777;EAX09778;EAX09779;EAX09780;EAX09781;EAX09782;NP_004405;NP_981962;NP_981963;P53805 Hs.282326 1685051;1713069;1725031;1730654;1730662;1730668;1757519;1759881;1773532;2107025;2183723;5037552 A005E07;D21S323;D21S327;D21S331;D8S2279;DSCR1_7784;RH118812;RH120322;SHGC-144954;SHGC-170121;SHGC-6887;STS-U28833 ADAPT78;CSP1;DSC1;DSCR1;MCIP1;RCN1 Down syndrome candidate region 1;Down syndrome critical region gene 1;OTTHUMP00000108619;OTTHUMP00000108620;OTTHUMP00000108621;OTTHUMP00000108622;OTTHUMP00000214669;OTTHUMP00000214670;calcipressin-1;calcium and oxidant-inducible mRNA;down syndrome critical region homolog 1 (human);down syndrome critical region protein 1;modulatory calcineurin-interacting protein 1;myocyte-enriched calcineurin-interacting protein 1;near DSCR proline-rich protein APPROVED protein-coding ENSG00000159200 3040 04226 602917 REVIEWED 2802295 RCC2P1 regulator of chromosome condensation 2 pseudogene 1 Y Y Y q11.21 216305476 216307087 - 12411630 12413238 - 13901762 13903233 - 650983 AC011293;NG_028686 pseudo 37710 INFERRED 69211 RCAN2 regulator of calcineurin 2 This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 6 6 6 p12.3 47741020 47846061 - 46296428 46401490 - 46188467 46459804 - 1580863;6480464 17610901;16344560;14702039;12477932;12102656;10861295;10756093;10722714;8889548;8662924;19819266;20379614;15342556;21988832 10231 B2R612;Q14206 ABBA01050620;ABBA01050621;AI813911;AK090990;AK312392;AL359633;AL390741;AL589903;AMYH01016326;AMYH01016327;AY034085;AY034086;BC038509;BM728501;BP264912;BU069906;CH471081;D83407;DA106611;DA113879;DA207634;DA409014;DB289594;NG_030437;NM_001251973;NM_001251974;NM_005822 AAH38509;AAK59805;AAK59806;ABM82584;ABM85771;BAA11911;BAG35309;BAG52258;EAX04294;NP_001238902;NP_001238903;NP_005813;Q14206 Hs.440168;Hs.710016 1655862;1684728;2118410;2218514 DSCR1L1__4779;RH70113;RH80775;STS-W69771 CSP2;DSCR1L1;MCIP2;RCN2;ZAKI-4;ZAKI4;hRCN2 Calcipressin 2 (Thyroid hormone-responsive protein ZAKI-4) (Down syndrome candidate region 1-like 1) (Myocyte-enriched calcineurin interacting protein 2) (MCIP2);Down syndrome candidate region 1-like 1;Down syndrome critical region gene 1-like 1;OTTHUMP00000016544;OTTHUMP00000016545;OTTHUMP00000016546;calcipressin-2;myocyte-enriched calcineurin-interacting protein 2;thyroid hormone-responsive (skin fibroblasts);thyroid hormone-responsive protein ZAKI-4 APPROVED protein-coding ENSG00000172348 3041 05342 604876 REVIEWED 3003933 RCC2P2 regulator of chromosome condensation 2 pseudogene 2 Y Y 5623789 5625074 + 22148474 22149759 - 100421075 ABBA01073819;AC009233;NG_021918 2189059 G65916 pseudo 38419 INFERRED 5135098 RCC2P4 regulator of chromosome condensation 2 pseudogene 4 3 3 124909570 124910608 - 126485280 126486318 - 100421090 ABBA01016385;AC078867;AMYH01013450;NG_025617 pseudo 42380 INFERRED 5135105 RCC2P5 regulator of chromosome condensation 2 pseudogene 5 3 3 3 q11.2 94860273 94861776 + 97954709 97956056 + 96472025 96473528 + 100131442 ABBA01026945;AC109782;AMYH01013348;NG_022256 pseudo 42381 INFERRED 5135097 RCC2P6 regulator of chromosome condensation 2 pseudogene 6 11 11 59468844 59470050 + 62139438 62140644 + 100421131 ABBA01003222;AP003064;NG_024523 pseudo 42382 INFERRED 5135113 RCC2P7 regulator of chromosome condensation 2 pseudogene 7 6 6 6 p12.1 57958900 57960399 - 56404603 56421449 - 56296728 56298227 - 442221 ABBA01050498;AL137008;AMYH01016368;NG_022301 pseudo 42383 INFERRED 5135104 RCC2P3 regulator of chromosome condensation 2 pseudogene 3 7 7 7 q33 132545739 132547793 + 137454666 137459567 + 137806949 137809003 + 100131932 AACC02000025;ABBA01001155;AC083867;AMYH01017968;CH236950;NG_022573 pseudo 42379 INFERRED 5135109 RCC2P8 regulator of chromosome condensation 2 pseudogene 8 4 4 4 q25 107004650 107005686 - 109929350 109930413 - 109709904 109710940 - 100129714 ABBA01063768;AC097473;AMYH01014454;NG_022024 pseudo 42384 INFERRED 1346588 RCD1 retinal cone dystrophy 1 7240710 5953 9930 1318252 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008] 13 13 13 q14 31161034 31214651 - 49004083 49057720 - 50106082 50159719 - 1580863;6480464;7240710 21145461;11256614;16381901;15489336;15057823;14985364;14702039;14565662;12477932;11306461;11230166;11076863;20085599;20926398;21832049;21906983;19256485 55213 B3KR20;Q8NDN9 AB209222;ABBA01051019;AF334406;AI079751;AJ319660;AK001578;AK090807;AK096654;AL139321;AL833821;AMYH01005108;BC038104;CH471075;NM_018191 AAH38104;AAK38372;BAA91768;BAC04833;BAD92459;BAG52232;CAC40027;CAD38683;CAL37574;EAX08829;NP_060661;Q8NDN9 Hs.508021 1736324;1758487;1774138;1846865;1846867;2162267;2183002;2183473 A005Y31;D13S827E;G20600;RH44560;RH65835;SGC34714;SHGC-148453;WI-12423 CLLD7;CLLL7;GLP;MGC33184;RP11-185C18.1 CLL deletion region gene 7 protein;GDP/GTP exchange factor (GEF)-like protein;OTTHUMP00000018413;RCC1 and BTB domain-containing protein 1;chronic lymphocytic leukemia deletion region gene 7 protein;regulator of chromosome condensation and BTB domain-containing protein 1 APPROVED protein-coding ENSG00000136144 18243 09713 103780;607867 REVIEWED 1323485 RCAN3 RCAN family member 3 1 1 1 p35.3-p33 23156569 23189587 + 24701974 24735015 + 24828841 24863510 + 1580863;6480464 10756093;16516408;19074885;18022329;17270291;17081983;16710414;15489334;12477932;19819266;21042787;21961037;15342556 11123 E3VWE2;E5L4P0;H0YF64;Q5TGC7;Q9UKA7 ABBA01059905;ABBA01059906;ABBA01059907;AF176116;AF176117;AI697154;AL034582;AMYH01000369;AMYH01000370;AY906854;BC035854;BP326714;BX105019;CH471134;CT001954;CX752875;EF431960;EF467309;EF529733;GQ411200;HQ287726;HQ317421;HQ317422;HQ317423;HQ317426;HQ317427;HQ317445;HQ317446;JN203053;JN228252;NM_001251977;NM_001251978;NM_001251979;NM_001251980;NM_001251981;NM_001251982;NM_001251983;NM_001251984;NM_001251985;NM_013441 AAF01684;AAF01685;AAH35854;AAW83514;ABM83360;ABM86571;ABO27184;ABO46010;ABP88933;ACV31394;ADO15700;ADR02808;ADR02809;ADR51177;ADR51178;ADR51179;ADR51182;ADR51183;AEL12453;AEL88283;EAW95132;EAW95133;EAW95134;NP_001238906;NP_001238907;NP_001238908;NP_001238909;NP_001238910;NP_001238911;NP_001238912;NP_001238913;NP_001238914;NP_038469;Q9UKA8 Hs.656799;Hs.737226 1335051;1692450;2110379 AL033875;D1S2674;DSCR1L2__4780 DSCR1L2;MCIP3;RCN3;hRCN3 Down syndrome candidate region 1-like 2;OTTHUMP00000003336;calcipressin-3;down syndrome candidate region 1-like protein 2;myocyte-enriched calcineurin-interacting protein 3;regulator of calcineurin 3;regulator of calcineurin 3 isoform 1,3,4,5;regulator of calcineurin 3 isoform 1a,2,3,4;regulator of calcineurin 3 isoform 1a,2,3,4,5;regulator of calcineurin 3 isoform 1a,3,4,5;regulator of calcineurin 3 isoform 1b,2;regulator of calcineurin 3 isoform 1b,2,3,4,5;regulator of calcineurin 3 isoform 1c,2,3,4,5;regulator of calcineurin 3 isoform 1c,3,4,5 protein-coding ENSG00000117602 3042 05792 605860 VALIDATED 1351172 RCBTB2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 This gene encodes a member of the RCC1-related GEF family. The N-terminal half of the encoded amino acid sequence shows similarity to the regulator of chromosome condensation RCC1, which acts as a guanine nucleotide exchange factor (GEF) protein for the Ras-related GTPase Ran. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 30117817 30162082 - 47961100 48005317 - 49063099 49107316 - 1302754;1580863;6480464 9806834 16189514;15489334;15057823;14702039;12477932;12115502;10089422;20379614;19256485 1102 B4DPP7;B4DWG0;B4E372;O95199 AB209543;ABBA01051006;ABBA01051007;ABBA01051008;ABBA01051009;AF060219;AK023010;AK122778;AK298438;AK301516;AK304598;AK310081;AK315703;AL157813;AMYH01005103;AY341245;BC029052;BC031965;BG772479;CH471075;HI574080;NM_001268 AAC79987;AAH29052;AAP88928;ABM81744;ABM87806;BAD92780;BAG38065;BAG51149;BAG53723;BAG60659;BAG63022;BAG65384;CBX47529;EAX08799;EAX08800;NP_001259;O95199 Hs.652712 1739621;1739975;1752569;2108725;2140125;2179167;2183082 CHC1L_8251;D13S1211E;D13S1218;D13S915;RH77866;SHGC-106473;WI-17332 CHC1L CHC1-L;OTTHUMP00000018399;RCC1 and BTB domain-containing protein 2;RCC1-like G exchanging factor RLG;chromosome condensation 1-like;regulator of chromosome condensation and BTB domain containing protein 2;regulator of chromosome condensation and BTB domain-containing protein 2 APPROVED protein-coding ENSG00000136161 1914 04631 603524 REVIEWED 1343250 RCC1 regulator of chromosome condensation 1 1 1 p36.1 28717332 28738194 + 28832455 28865708 + 1580863;6480464 1944575;2677018;11375490;3678831;15014043;19060893;18762580;18712773;18568422;18442486;18439570;17855385;17435751;17251553;17081983;16964243;16052169;15635413;15489334;15302935;14565978;12477932;12194828;12062430;11932251;11336674;11310559;10875935;10811825;10744690;10369786;10089422;9510255;7983178;7851910;7616957;2236072;1961752;1769659;10811801;7891706;9637251;16407974;8896453;20668449;16820410;17158748;18617507;20347844;7882974;7988569;18029348;10827954;20565941;22939629;16196087;19738201;21963094;22623428;22215983;18850631;23536659;23752268;21110914;21139048;21890473;21900206;21906983;22178446;21907836;22053931;22944692 1104 C9J3R0;C9JMJ4;C9JQZ4;C9JRH2;C9JW69;H7C497;M0R1Q8;P18754;Q5T081 ABBA01035034;ABBA01035035;ABBA01035036;AF498924;AI198971;AL513497;AMYH01000431;AMYH01000432;BC001589;BC010067;BC069198;BF590413;BF667678;BM546148;BQ436549;BU501614;BU622451;BX109495;CB985055;CH471059;CR407693;CV811053;D00591;NM_001048194;NM_001048195;NM_001048199;NM_001269;NR_030725;NR_030726;S75708;X12654 AAB32653;AAH10067;AAH69198;AAM21072;ABM84079;ABM87759;BAA00469;CAA31182;CAG28621;EAX07690;EAX07691;EAX07692;EAX07693;EAX07694;EAX07695;NP_001041659;NP_001041660;NP_001041664;NP_001260;P18754 Hs.469723 1656082;1698958;1767391;1789304;1854138;2116747;2133826;2133828;2170207;2182354;5018033;5093636 A009U10;D1S3211;G32835;G34830;G67872;PRDX3-1;RH103048;RH68391;SHGC-32496;SHGC-36606;SHGC-56851;SHGC-74505 CHC1;RCC1-I;SNHG3-RCC1 OTTHUMP00000003775;OTTHUMP00000003777;OTTHUMP00000211004;OTTHUMP00000211005;OTTHUMP00000211006;OTTHUMP00000211007;OTTHUMP00000211009;SNHG3-RCC1 readthrough transcript;cell cycle regulatory protein;chromosome condensation 1;chromosome condensation protein 1;guanine nucleotide-releasing protein;regulator of chromosome condensation protein-coding ENSG00000180198 1913 01559 179710 VALIDATED 4889296 RCN1P1 reticulocalbin 1, EF-hand calcium binding domain pseudogene 1 6 6 6 q14.3 88250161 88251153 - 87888130 87889125 - 87831414 87832406 - 442234 ABBA01040490;AL139274;AMYH01016492;NG_022315 pseudo 39205 INFERRED 4889248 RCN1P2 reticulocalbin 1, EF-hand calcium binding domain pseudogene 2 13 13 13 q14.13 27018142 27020273 - 44861310 44864669 - 45963429 45965561 - 728913 ABBA01021207;AL627107;AMYH01005088;NG_006546 1653223;1688486;2107595;2130698;2132169;2137933 RH69418;RH79191;SGC33196;SLC25A30__6847;STS-R87642;STS-W02829 pseudo 39204 INFERRED 1319506 RCE1 RCE1 homolog, prenyl protein protease (S. cerevisiae) This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008] 11 11 11 q13 63932529 63942408 + 66367459 66370579 + 66610883 66614003 + 1580863;6480464 10085068;16361710;15489334;14625273;14504265;12818187;12477932;11038283;10373325;21987572;21906983;21926972;19188362 9986 E9PI08;E9PKA7;E9PPV9;Q0P5W4;Q9Y256 ABBA01024061;AF121951;AL713740;AMYH01003736;AP000485;BC052622;BC093726;BC093728;CH471076;CQ834848;NM_001032279;NM_005133;Y13835 AAD22632;AAH52622;AAH93726;AAH93728;CAB46278;CAH05639;EAW74565;EAW74566;EAW74567;NP_001027450;NP_005124;Q9Y256 Hs.654972 1668178;1682049;1748401;1751473 D19Ertd98e;RH16038;RH98933;SHGC-105288 FACE2;RCE1A;RCE1B CAAX prenyl protease 2;OTTHUMP00000235150;OTTHUMP00000235151;OTTHUMP00000235153;RCE1 homolog, prenyl protein peptidase;RCE1 homolog, prenyl protein protease;farnesylated protein-converting enzyme 2;farnesylated proteins-converting enzyme 2;prenyl protein-specific endoprotease 2;rce1 homolog, prenyl protein protease (s. cerevisiae) APPROVED protein-coding ENSG00000173653 13721 07289 605385 REVIEWED 1603393 RCC2 regulator of chromosome condensation 2 1 1 1 p36.13 16058375 16091346 - 17605866 17638807 - 17733251 17766250 - 6480464 19738201;21319273;18849993;17081983;15489334;12919680;12477932;12429849;10819331;9914378;7559776;1939370;15249581;20873769;22282019;16751776;16055720;22863883;22939629;21139048;21890473;21906983;21907836;20639865;19322201;21628590;22586326;21252943;22053931;22505724;22944692 55920 Q9P258 AB040903;ABBA01000270;ABBA01000271;ABBA01000272;AC004824;AJ421269;AK026005;AL359612;AMYH01000296;AMYH01000297;BC004933;BC042141;BC053908;BC142946;BQ774471;CH471134;CR991144;DR000303;NM_001136204;NM_018715 AAH04933;AAH42141;AAH53908;AAI42947;BAA95994;CAB94882;CAD13148;EAW94838;EAW94839;NP_001129676;NP_061185;Q9P258 Hs.380857 1679279;5016842;5110880 G22339;RH47145;RH68854 DKFZp762N0610;KIAA1470;TD-60 OTTHUMP00000002613;OTTHUMP00000002614;RCC1-like protein TD-60;protein RCC2;telophase disk protein of 60 kDa protein-coding ENSG00000179051 30297 18171 609587 VALIDATED 1605899 RCCD1 RCC1 domain containing 1 15 15 15 q26.1 67907324 67915571 + 89299110 89307359 + 91498106 91506355 + 6480464 16572171;15489334;14702039;12477932;22939629;18029348;21987572;21139048;21890473;21906983;22505724 91433 A6NED2;G3V2I3;G3V3Q4 AA564459;ABBA01053073;AC068831;AK092661;AL110104;AL110105;AL527085;AMYH01006924;BC008845;BC064606;BC094739;BC113826;BC140708;BC140709;BQ924078;BU850147;BX375216;CH471101;NM_001017919;NM_033544 A6NED2;AAI13827;AAI40709;AAI40710;EAX02130;EAX02131;EAX02132;NP_001017919;NP_291022 Hs.655895 2147165;2161868;2181939 A003P05;D15S1226;RH44518 MGC14386 OTTHUMP00000246698;OTTHUMP00000246699;OTTHUMP00000246700;OTTHUMP00000246701;RCC1 domain-containing protein 1 protein-coding ENSG00000166965 30457 18706 VALIDATED 1353437 RCHY1 ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013] 4 4 q21.1 76623371 76658652 - 76404247 76439640 - 1580863;2316155;6480464;6484113;6907045 19450511 18344599;15781263;19445020;19282868;19043414;18006823;17950244;17721809;17568776;16934800;16914734;15547185;15280670;14702039;14701804;12654245;12477932;12200228;8889548;18263878;17207965;18029348;20598683;19549727;16713569;19483087;19551892;19895323;19945467;20008555;20452352;16344560;16461635;20333547;21084285;21236467;21622095;21791603;21852228;22491018;22125490;22570270;22493164;15342556;21963094;21988832;23235527;23449389;23603988;21994467;22766706 25898 C7E542;D6RAF6;E7EMC8;E7ETW5;H0YAI4;J3KPI0;J3KQJ2;Q96PM5 AB209072;ABBA01063343;AC096759;AF247041;AF255666;AF305424;AK091501;AK308754;AK308848;AK309555;AL050144;AMYH01014305;AW236209;AY888047;BC015464;BC031057;BC047393;BF102905;BG703058;BI913695;BP314571;BQ024871;BQ959587;CB241669;CF597260;CH471057;DA197338;DB044826;DN919417;GQ250944;GQ250945;GQ250946;GU937000;JF691538;JF691539;NG_029152;NM_001008925;NM_001009922;NM_001278536;NM_001278537;NM_001278538;NM_001278539;NM_015436;NR_037913;NR_037914;NR_103723;NR_103724;NR_103725 AAH15464;AAH47393;AAK96896;AAL09356;AAL76101;AAX78233;ACT35531;ACT35532;ACT35533;ACT64476;ACT64477;ADD21555;ADQ32462;AEO00252;AEO00253;BAD92309;BAG52375;CAB43290;EAX05724;EAX05725;EAX05726;EAX05727;EAX05728;NP_001008925;NP_001009922;NP_001265465;NP_001265466;NP_001265467;NP_001265468;NP_056251;Q96PM5 Hs.48297 1680202;2142736;5014063 D15S1390;RH91327;SHGC-64844 ARNIP;CHIMP;DKFZp586C1620;PIRH2;PIRH2E;PIRH2F;PRO1996;RNF199;ZNF363;hARNIP CH-rich interacting match with PLAG1;CH-rich-interacting match with PLAG1;E3 ubiquitin-protein ligase Pirh2;OTTHUMP00000160598;OTTHUMP00000218849;OTTHUMP00000218850;OTTHUMP00000218851;OTTHUMP00000218853;OTTHUMP00000218854;RING finger and CHY zinc finger domain-containing protein 1;RING finger protein 199;androgen receptor N-terminal-interacting protein;androgen-receptor N-terminal-interacting protein;hPirh2;p53-induced RING-H2 protein;p53-induced protein with a RING-H2 domain;zinc finger protein 363 APPROVED protein-coding ENSG00000163743 17479 07607 607680 REVIEWED 1313278 RCL1 RNA terminal phosphate cyclase-like 1 9 9 9 p24.1-p23 4718433 4786663 + 4782834 4851064 + 4792834 4861064 + 1580863;6480464;6907045 10790377;16344560;15635413;15489334;15164053;14702039;12477932;11790298;11042152;9184239;8125298;3416880;19862010;20379614;22586326;21139048;21906983;21907836;21963094;23222517;23263863;22139419 10171 Q5VYW8;Q5VZU1;Q5VZU2;Q5VZU3;Q9Y2P8 ABBA01065419;AF067172;AF161456;AJ276894;AK022904;AK225872;AL158147;AL353151;AMYH01019201;BC001025;CH471071;DB024289;DB448951;EF553527;NM_005772 AAD32456;AAF29016;AAH01025;ABQ66271;ACE86480;ACE87161;ADZ15748;BAB14300;CAB89811;EAW58776;EAW58777;NP_005763;Q9Y2P8 Hs.194121 1336440;1648022;1676528;1689444;1787040;1798088;1853984;5092666 A005O19;D9S1810;D9S2081;G32250;RH80665;RH93863;RNAC_2461;SHGC-153573 RNAC;RPCL1 2310040A02Rik;OTTHUMP00000021017;RNA 3'-terminal phosphate cyclase-like protein;RNA cyclase homolog protein-coding ENSG00000120158 17687 10189 611405 VALIDATED 1353932 RCOR2 REST corepressor 2 11 11 11 q13.1 61004887 61010510 - 63435278 63440892 - 63678693 63684316 - 737633;1580863;6480464 12477932 21697133;15489334;16169070;8889548;19394292;21433225;21876670 283248 Q8IZ40 AB593132;ABBA01003275;AMYH01003697;AP003780;BC010608;BC023587;BM678625;CH471076;NM_173587 AAH10608;AAH23587;BAJ84072;EAW74181;EAW74182;NP_775858;Q8IZ40 Hs.98788 OTTHUMP00000197435;REST corepressor 2 protein-coding ENSG00000167771 27455 15234 VALIDATED 1348795 RD Radin blood group 5958 9938 111620;111750 1346169 RCN3 reticulocalbin 3, EF-hand calcium binding domain 19 19 19 q13.33 46900209 46916223 + 54722687 54738702 + 50030875 50046890 + 1580863;6480464 16189514;16433634;15489334;12975309;12477932;10931946;21139048 57333 M0QYB8;M0QZH0;M0QZU3;Q96D15 ABBA01032920;ABBA01032921;AC010619;AF183423;AMYH01009913;AY195859;AY358423;BC013436;NM_020650 AAG09692;AAH13436;AAO43054;AAQ88789;NP_065701;Q96D15 Hs.567550 1854613;2110403;2154554;5015522 FCGRT_2894;RH78760;SHGC-12954;STS-W95460 RLP49 EF-hand calcium-binding protein RLP49;reticulocabin;reticulocalbin-3;reticulocalbin-like protein-coding ENSG00000142552 21145 17962 PROVISIONAL 1322672 RCN1 reticulocalbin 1, EF-hand calcium binding domain Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009] 11 11 11 p13 32259538 32274336 + 32069267 32083653 + 32112477 32127272 + 1580863;6480464 8416973;18561328;16713569;16554811;15489334;15342556;14702039;12477932;9192846;8586628;18688696;19474196;19710015;21145461;20724591;21272564;23106098;22863883;22939629;18029348;12938929;18457437;20360068;21139048;21890473;17110338;21150319;21988832;23319000;23438482;22190034 5954 B7Z1M1;E9PLM2;E9PP27;H0YDA4;H0YER5;Q15293 ABBA01060915;AK094360;AK126419;AK129791;AL078612;AMYH01003477;AY423728;BC010120;BG109024;BP253627;CA449220;CH471064;D42073;NM_002901 AAH10120;AAS00491;ABM83854;ABM87176;BAA07670;EAW68227;EAW68228;NP_002892;Q15293 Hs.97887 1676642;1688486;1734026;2130698;2160010;5125805 D11S2163;RH64956;RH69418;RH98584;SGC33196;STS-L37776 FLJ37041;FLJ55835;PIG20;RCAL;RCN OTTHUMP00000232226;OTTHUMP00000232227;proliferation-inducing gene 20;reticulocalbin-1 APPROVED protein-coding ENSG00000049449 9934 04111 602735 REVIEWED 733014 RCN2 reticulocalbin 2, EF-hand calcium binding domain The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] 15 15 15 q23 54155320 54173958 + 75011171 75029302 + 77223962 77242601 + 1580863;6480464 15489334;12477932;10748068;9533013;9261167;16169070;18435749;8034671;7624774;19927312;17207965;21044367;20562859;21145461;22863883;20462248;22939629;12938929;18457437;20360068;21139048;21890473;21900206;21906983;20682791;17725712;15342556;22190034 5955 A8MXP8;F8WCY5;H0YL43;Q14257 ABBA01060556;ABBA01060557;AC051643;AK313833;AL110102;AMYH01006822;AV711990;BC004892;BP275421;BT009790;CH471136;DB452318;NM_001271837;NM_002902;X78669;X78670 AAH04892;AAP88792;ADQ32695;BAG36566;CAA55343;EAW99216;NP_001258766;NP_002893;Q14257 Hs.79088 2118905;2121853 D15S1177;RH17429 E6BP;ERC-55;ERC55;TCBP49 E6-binding protein;OTTHUMP00000184901;OTTHUMP00000184902;OTTHUMP00000184903;calcium-binding protein ERC-55;reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD);reticulocalbin-2 APPROVED protein-coding ENSG00000117906 9935 03993 602584 REVIEWED 1603598 RCSD1 RCSD domain containing 1 1 1 1 q24.2 140708754 140784746 + 165865954 165942110 + 167599474 167675486 + 6480464 19064610;17541395;15850461;12477932;19536175 92241 B7ZKW8;F6T4W9;Q6JBY9 ABBA01047242;AF545852;AK025425;AL031733;AL137762;AL356532;AL833211;AMYH01001484;AY530954;BC013186;BC072399;BC098426;BC101536;BC101562;BC143428;CH471067;DR006615;NM_052862 AAH13186;AAH72399;AAH98426;AAI01537;AAI01563;AAI43429;AAN52359;AAS99235;CAB70910;EAW90796;EAW90797;EAW90798;EAW90799;NP_443094;Q6JBY9 Hs.493867 1338728;1683393;1768772;2112534;2118721;2187609;7187548 D1S196;D1S3505;D1S3678;RH36349;RH69706;RH80616 CAPZIP;MGC126585;MGC126611;MGC21854;MK2S4;RP3-503M14.1 OTTHUMP00000033255;OTTHUMP00000033256;RCSD domain-containing protein 1;capZ-interacting protein;protein kinase substrate CapZIP;protein kinase substrate MK2S4 protein-coding ENSG00000198771 28310 10077 610579 VALIDATED 5683670 RD3L retinal degeneration 3-like 14 q32.33 104406763 104408645 - 8889548 647286 P0DJH9 ABBA01048396;AL136001;AMYH01006055;BQ184214;BQ185906;BX117646;NM_001257268 NP_001244197;P0DJH9 Hs.632325 TDRD9-AS1;TDRD9AS1 TDRD9 antisense 1;TDRD9 antisense RNA 1 (non-protein coding);protein RD3-like;retinal degeneration protein 3-like;uncharacterized protein LOC647286 APPROVED protein-coding ENSG00000227729 40912 VALIDATED 1350848 RCOR3 REST corepressor 3 1 1 1 q32.2 184656707 184716396 + 209499949 209556200 + 211432708 211489727 + 737633;1580863;6480464 12477932 21832049;16189514;19060904;18029348;17081983;16710414;16344560;15489334;14702039;10718198;19773279;19394292;20360068;21765449;21139048;21890473;19322201 55758 B4DV59;E9PPC5;E9PQE5;E9PR63;H0YDD7;H0YDR8;H0YF22;Q9P2K3 AA831517;AB037764;ABBA01048192;ABBA01048193;ABBA01048194;AK001738;AK057001;AK125810;AK131312;AK300942;AK302664;AK311644;AL590101;AL611964;AMYH01001698;AMYH01001699;BC031608;CH471100;DA478986;DC387352;NM_001136223;NM_001136224;NM_001136225;NM_018254 AAH31608;BAA91872;BAA92581;BAG54764;BAG62571;BAG63899;EAW93423;NP_001129695;NP_001129696;NP_001129697;NP_060724;Q9P2K3 Hs.356399 1667932;1699780;1778546;2111186;2121291;2131936;2132680;2183893 AL009661;AL009693;D1S3586;D1S527E;RH103497;SHGC-53772;SHGC-76308;SHGC-76311 FLJ10876;FLJ16298;RP11-318L16.1 OTTHUMP00000035053;OTTHUMP00000035054;OTTHUMP00000228430;OTTHUMP00000228431;OTTHUMP00000228432;REST corepressor 3 protein-coding ENSG00000117625 25594 08338 VALIDATED 1313957 RCOR1 REST corepressor 1 This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011] 14 14 q32.31 102128986 102266666 + 103058996 103196913 + 1580863;6480464;6907045 8619474;18945770;12192000;18854179;18806873;18657505;18075316;17081983;16885027;16565220;16140033;16079794;15897453;15489334;15325272;12493763;12477932;12399542;12032298;11516394;11171972;11102443;11076863;10734093;10449787;9110174;7584044;20973059;19242095;17537733;19394292;19522008;19703393;20080105;20106915;17546044;17555596;17620012;17938259;17967884;11602581;16956976;17130829;18391013;18501190;18625718;19754958;21142040;20164337;20331966;20562920;22990118;21300290;20133760;20547759;21221247;17707228;19471022;21139048;21693764;21890473;21906983;22143567;12700765;19497860;20360068;20389281;21602794;21670149;22318606;22354994;22802671;23349832;23402259;23752268;21258344;22399799;23000965;21876670;22139419 23186 H0YNY4;J3KN32;Q9UKL0 ABBA01048457;ABBA01048458;ABBA01048459;ABBA01048460;ABBA01048461;ABBA01048462;ABBA01048463;AF070627;AF155595;AI337324;AK026612;AL132801;AL136293;AMYH01006035;AMYH01006036;AMYH01006037;AMYH01006038;BC051003;BC064495;CH471061;D31888;DB455887;NM_015156 AAF01498;AAH51003;AAH64495;AAI11591;BAA06686;EAW81793;EAW81794;NP_055971;Q9UKL0 Hs.510521 1334623;1646831;1659459;1686524;1718883;1725757;1728961;1770564;1853412;1856146;2133712;2151239;2163040 D12Wsu95e;D14S1199;D14S1249;D14S1343;D14S557;D14S577;G15972;G35674;G35981;G62068;RH123147;RH25301;RH68264 COREST;KIAA0071;RCOR OTTHUMP00000246830;REST corepressor 1 APPROVED protein-coding ENSG00000089902 17441 09645 607675 REVIEWED 734065 RCVRN recoverin This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008] 17 17 p13.1 9741752 9749409 - 9801027 9808684 - 1580863;6480464;6893539;6907045;7204681 22074925;20668007 17286855;8422501;7906682;7745609;1999465;1467959;1388144;1387789;1672047;18266817;17374419;16713569;15489334;12789533;12596918;12507501;12477932;9753452;8912538;8598320;8500558;20812967;21697133;21344177;12549820 5957 J3QL94;P35243;Q53XL0 AB001838;AB593156;ABBA01054966;AC026591;AK314129;AMYH01008102;BC001720;BT009838;CH471108;DQ980606;NM_002903;S43855;S45545;S62028 AAB23163;AAB23392;AAB26894;AAH01720;AAP88840;ABM83748;ABM87067;BAA19460;BAG36819;BAJ84088;EAW90014;NP_002894;P35243 Hs.80539 1655701;1742477;1743151;2108417;2126587;2151799;2190833;5094925 D17S2012;G15951;GDB:197516;GDB:277109;RCV1;RCV1_8588;RCVRN;STS-S43855 RCV1 OTTHUMP00000160768;cancer associated retinopathy antigen;cancer-associated retinopathy protein;recoverin APPROVED protein-coding 9937 01558 179618 REVIEWED 1604846 RDH16 retinol dehydrogenase 16 (all-trans) 12 12 12 q13.3 56999103 57005306 - 55631482 55637685 - 57345215 57351418 - 6480464;6484672;6907045 21621639 9677409;19027726;12534290;11967490;11294878;10329026 8608 O75452;Q59FX7 AB209332;ABBA01008445;AC026120;AF057034;AF086735;AMYH01004510;AW449664;CH471054;DQ499468;NM_003708 AAC39922;AAC72923;AAI60081;ABF51671;BAD92569;EAW96968;NP_003699;O75452 Hs.134958 1680401;2118036 RH76014;SHGC-35723 RODH-4;SDR9C8 OTTHUMP00000244666;microsomal NAD(+)-dependent retinol dehydrogenase 4;microsomal NAD+-dependent retinol dehydrogenase 4;retinol dehydrogenase 16;retinol dehydrogenase 16 (all-trans and 13-cis);short chain dehydrogenase/reductase family 9C, member 8;sterol/retinol dehydrogenase protein-coding 29674 10208 VALIDATED 1603852 RD3 retinal degeneration 3 This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 1 1 1 q32.3 184876748 184893143 - 209717404 209732882 - 211649864 211666259 - 7240710 17186464;15489334;12914764;12477932;18936139;21832049;23308101;21928830;22531706;20301475;23393555 343035 Q7Z3Z2 ABBA01048190;AC105275;AK291210;AMYH01001700;AY191519;BC035651;BC065541;BX647803;CH471100;NG_013042;NM_001164688;NM_183059 AAH65541;AAP12678;BAF83899;EAW93414;NP_001158160;NP_898882;Q7Z3Z2 Hs.632495 2176874 WI-18112 C1orf36;LCA12 OTTHUMP00000035058;protein RD3;retinal degeneration protein 3 APPROVED protein-coding ENSG00000198570 19689 12726 180040;610612 REVIEWED 1351497 RDH10 retinol dehydrogenase 10 (all-trans) This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011] 8 8 q21.11 74369891 74399347 + 74206837 74237520 + 1302393;1580863;6480464;6893650;6771354;6484672;6907045 12407145;21447403;21138835;21621639 19102727;19027726;18502750;17218779;14596915;12975309;12477932;19458327;19473719;21345790;8889548;21890473;21906983;22412388;19322201;22053931 157506 E5RHJ9;E5RK48;Q8IZV5 ABBA01041964;ABBA01041965;AC111149;AF456765;AMYH01018790;AY358270;BC067131;BM472905;BM804062;BM979260;CD110145;CH471068;HH961816;HI574066;NM_172037 AAH67131;AAN64747;AAQ88637;CBX47522;CBX51381;EAW87001;EAW87002;NP_742034;Q8IZV5 Hs.244940 1668772;1668774;1672827;1684132;1707518;1760231;2148059;5015619;5022578;5109663 D11S3114;D1S1423;D7S2067E;D8S1627;RH16166;RH94261;SHGC-132522;SHGC-32652;SHGC-34375;SHGC-84561 SDR16C4 OTTHUMP00000226821;OTTHUMP00000226823;retinol dehydrogenase 10;short chain dehydrogenase/reductase family 16C, member 4 APPROVED protein-coding ENSG00000121039 19975 07605 607599 REVIEWED 1319361 RDH8 retinol dehydrogenase 8 (all-trans) All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH (Rattner et al., 2000 [PubMed 10753906]). It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of photoreceptors; hence it is also known as photoreceptor retinol dehydrogenase. It is important in the visual cycle by beginning the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin (Rando, 2001 [PubMed 11710234]). This is a rate-limiting step in the visual cycle (Saari et al., 1998 [PubMed 9667000]).[supplied by OMIM, Mar 2008] 19 19 p13.2 9984925 9993954 + 10123925 10132954 + 1580863;6480464;6893650;6907045 21447403 10753906;19027726;15755727;15322982;15028754;14702039;12226107;11710234;9667000;21043051;22220722 50700 K7EKT5;K7ELF7;Q9NYR8 ABBA01029955;ABBA01029956;AC008742;AF229845;AK024022;AMYH01009466;CH471106;NM_015725 AAF63160;AAI40329;AAI46480;BAB14782;EAW84062;NP_056540;Q9NYR8 Hs.675522 PRRDH;SDR28C2 photoreceptor outer segment all-trans retinol dehydrogenase;retinol dehydrogenase 8;short chain dehydrogenase/reductase family 28C, member 2 APPROVED protein-coding ENSG00000080511 14423 16350 608575 VALIDATED 1321376 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008] 14 14 q24.1 67258943 67270921 + 68168603 68201168 + 1599415;6480464;6893650;6907045;7240710 15322982;21447403 12226107;19027726;19011012;18779497;17512964;17512723;17389517;17197551;15865448;15489334;15258582;14702039;12477932;9799089;20591486;20736127;19686838;19753312;20006610;17207965;20801516;22065924;21906983;20301475;20301590;21890473;21987572;21988832;22053931;23000965;22505724 145226 Q96NR8 ABBA01023706;ABBA01023707;AK054835;AK315462;AL049779;AMYH01005816;BC025724;CH471061;NG_008321;NM_152443 AAH25724;ADQ33178;BAB70811;BAG37849;EAW80951;NP_689656;Q96NR8 Hs.415322 2129513;2165075;2176170 G36282;G36307;WI-15520 FLJ30273;LCA13;LCA3;RP53;SDR7C2 OTTHUMP00000242640;all-trans and 9-cis retinol dehydrogenase;retinol dehydrogenase 12;retinol dehydrogenase 12 (all-trans and 9-cis);retinol dehydrogenase 12, all-trans and 9-cis;short chain dehydrogenase/reductase family 7C, member 2 APPROVED protein-coding ENSG00000139988 19977 10585 608830;612712 REVIEWED 1351817 RDXP1 radixin pseudogene 1 11 11 p15.4 4188153 4189897 - 4231580 4233321 - 8486357 5963;643244 ABBA01032034;AC015689;AMYH01003350;NG_021769 pseudo 9945 INFERRED 1344187 RDXP2 radixin pseudogene 2 X X X p22 31661849 31664559 - 27443103 27446021 - 27533288 27536000 - 8486357 5964 ABBA01072652;ABBA01072653;AC006210;AMYH01022176;NG_000867 1681957;1775607;2126015;5017615 RDX;RH115;RH27285;RH79199 pseudo 9946 INFERRED 1323753 RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011] 14 14 q24.1 67213270 67232213 - 68143517 68162510 - 1580863;6480464;6893650;6907045 21447403 19027726;17286855;17249616;16303743;15489334;14702039;14674758;12532453;12477932;12226107;12036956;11245473;10810093;8018917;17207965;15583024;18295589;12807874;18781797;21900206;21987572;21139048;21890473;21906983;16009940;21963094;23000965;22053931;22505724 51109 G3V234;G3V2G6;G3V3K0;G3V510;H0YJ46;Q8TC12 AB209223;ABBA01023707;AF151840;AF167438;AF395068;AI382141;AK057195;AK074749;AK289427;AK293355;AK307500;AK314465;AL049779;AMYH01005816;BC000112;BC011727;BC026274;BC037302;BC051291;CH471061;CQ783647;CR457180;DC355364;DQ426886;NM_001252650;NM_016026 AAD34077;AAF89632;AAH00112;AAH11727;AAH26274;AAH37302;AAH51291;AAK72049;ABD90542;ADQ31650;BAD92460;BAF82116;BAG37073;BAG51881;BAG51997;BAG56871;CAF86792;CAG33461;EAW80948;EAW80949;EAW80950;NP_001239579;NP_057110;Q8TC12 Hs.719925 1659022;1698954;1725719;1767537;2122477;2152353;2153455 G35424;G35621;G36036;G62055;IB526;RH103046;RH68773 ARSDR1;CGI-82;CGI82;FLJ32633;HCBP12;MDT1;PSDR1;RALR1;SCALD;SDR7C1 HCV core-binding protein HCBP12;OTTHUMP00000245403;OTTHUMP00000245404;OTTHUMP00000245405;OTTHUMP00000245538;androgen-regulated short-chain dehydrogenase/reductase 1;prostate short-chain dehydrogenase reductase 1;prostate short-chain dehydrogenase/reductase 1;retinal reductase 1;retinol dehydrogenase 11;retinol dehydrogenase 11 (all-trans and 9-cis);short chain dehydrogenase/reductase family 7C, member 1 APPROVED protein-coding ENSG00000072042 17964 09707 607849 REVIEWED 1312701 RDH13 retinol dehydrogenase 13 (all-trans/9-cis) This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 19 19 19 q13.42 52595491 52620880 - 60247519 60272709 - 55555692 55580914 - 1580863;6480464 19027726;18039331;16344560;16303743;15489334;14702039;12975309;12477932;12226107;20877624;21890473;21900206;21906983;22114354 112724 B3KVA3;G8JLA1;K7EMY5;K7EQB5;K7ERV1;Q8NBN7 ABBA01068129;ABBA01068130;ABBA01068131;AC011476;AK075392;AK096798;AK122764;AK291579;AK310288;AK315539;AL833150;AMYH01009980;AMYH01009981;AY358473;BC009881;BC069002;CH471135;DB218166;DB273341;DN996530;NM_001145971;NM_138412;NR_027381;NR_027382 AAH09881;AAQ88837;BAC11591;BAF84268;BAG37918;BAG53715;EAW72321;EAW72322;EAW72323;NP_001139443;NP_612421;Q8NBN7 Hs.327631;Hs.731615 1663741;1721463;2121543;2156992;5016596;5020242;5020881;5037552;5093120 A009G28;D11S2612;D19S1109;D8S2279;G32531;G59585;GDB:631802;L17709;WIAF-2101 DKFZp313H0740;FLJ39479;SDR7C3 retinol dehydrogenase 13;retinol dehydrogenase 13 (all-trans and 9-cis);short chain dehydrogenase/reductase family 7C, member 3 APPROVED protein-coding ENSG00000160439 19978 17963 REVIEWED 1320191 RDH14 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) 2 2 2 p24.2 18617249 18623222 - 18599473 18605381 - 18735989 18741959 - 1580863;6480464 11256614;19027726;16381901;15489336;15489334;14702039;12975309;12766061;12477932;12435598;12226107;11076863;17362836;20877624;21139048 57665 Q53RX3;Q9HBH5 ABBA01018502;AC079148;AF237952;AK023625;AK314994;AMYH01010144;AY358511;BC009830;BI546337;CD676669;CH471053;NM_020905 AAG12190;AAH09830;AAQ88875;AAX93259;BAG37490;CAL38103;EAX00855;EAX00856;EAX00857;EAX00858;NP_065956;Q9HBH5 Hs.120319 1698672;2219618 RDH14__5475;RH102895 PAN2;SDR7C4 OTTHUMP00000115875;alcohol dehydrogenase PAN2;pancreas protein 2;retinol dehydrogenase 14;retinol dehydrogenase 14 (all-trans and 9-cis);short chain dehydrogenase/reductase family 7C, member 4 protein-coding ENSG00000240857 19979 10190 VALIDATED 1321329 RDM1 RAD52 motif 1 This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 31154640 31167336 - 31269197 31281893 - 34245084 34257780 - 1580863;6480464 17905820;15611051;12750383;12477932;18029348;21906983 201299 A8RCT8;B4DZ74 AA761980;AB080728;ABBA01011241;ABBA01011242;AC004675;AC015849;AK302782;AMYH01008361;AW138754;BC032114;BC038301;BC127190;BM559857;BU599050;BX376188;CH471147;EF488473;EF488474;EF488475;EF488476;EF488477;EF488478;EF488479;EF488480;EF488481;EF488482;NM_001034836;NM_001163120;NM_001163121;NM_001163122;NM_001163124;NM_001163125;NM_001163130;NM_145654;NR_027996;NR_027997;NR_027998;NR_027999;NR_028000 AAI27191;ABS86950;ABS86951;ABS86952;ABS86953;ABS86954;ABS86955;ABS86956;ABS86957;ABS86958;ABS86959;ABW03899;BAC02562;BAG63986;EAW80116;EAW80117;EAW80118;NP_001030008;NP_001156592;NP_001156593;NP_001156594;NP_001156596;NP_001156597;NP_001156602;NP_663629;Q8NG50 Hs.194411 2109729 RAD52B_8155 MGC33977;RAD52B OTTHUMP00000163946;OTTHUMP00000163959;OTTHUMP00000163960;OTTHUMP00000163961;OTTHUMP00000163962;RAD52 homolog B;RAD52 motif-containing protein 1 APPROVED protein-coding ENSG00000187456 19950 15205 612896 REVIEWED 1318857 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010] 12 12 q13-q14 54400488 54404756 + 56114151 56118526 + 1599416;1580863;6480464;6893650;6907045;7240710 10617778;21447403 9115228;10369264;19027726;18363170;16637847;15489334;15342556;15302662;15007239;14702039;12967826;12906118;12860821;12788147;12536149;12477932;12226107;11812441;11470705;11274198;11078852;11053295;9931293;8889548;8884265;7836368;12732844;22669287;20801516;15790919;17286855;17476461;18949499;20618457;20801113;20829743;11675386;20382160;17207965;21529959;19322201;23396134;22736946;22815624 5959 F8VUB9;F8VVC7;H0YHP7;Q92781 ABBA01008384;AC009779;AF037062;AK293313;AK307157;AMYH01004494;BC028298;BI765016;BP381700;BU617433;BU731044;CH471054;DQ426887;NG_008606;NM_001199771;NM_002905;U43559;U89717 AAB93668;AAC09250;AAC50725;AAH28298;ADQ31868;BAG56833;EAW96825;EAW96826;NP_001186700;NP_002896;Q92781 Hs.600940 1794934;2115768;2141427;2152841;2160251;2219620;5022651;5037552;5094008;5109663;5118444 A010A32;D11S2921;D11S3316;D7S2067E;D8S2279;G33052;PMC85795P2;RDH5__5476;RH17484;RH41921;SGC34432 9cRDH;FLJ39337;FLJ97089;HSD17B9;RDH1;SDR9C5 11-cis RDH;11-cis RoDH;11-cis retinol dehydrogenase;9-cis retinol dehydrogenase;9-cis-retinol specific dehydrogenase;OTTHUMP00000242975;OTTHUMP00000242976;OTTHUMP00000242988;retinol dehydrogenase 1;retinol dehydrogenase 5 (11-cis and 9-cis);short chain dehydrogenase/reductase family 9C, member 5 APPROVED protein-coding ENSG00000135437 9940 03370 136880;601617 REVIEWED 1318851 RECK reversion-inducing-cysteine-rich protein with kazal motifs The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. [provided by RefSeq, Jul 2008] 9 9 p13.3 36026906 36114448 + 36036910 36124452 + 1580863;6480464 9789069;19208844;19197139;19022775;18652766;18425389;18319621;18194466;17714826;17628776;17583418;17443689;17329256;17328864;17262820;17233834;17033924;16951151;16791855;16377629;16103099;15328199;15164053;14702039;12810630;12738734;12477932;12438739;11747814;9789096;21468925;22158033;22761427;22098593;22844865;20127710;16463672;20510080;20579139;21432940;19827606;19995435;20032402;20143471;20154725;20379614;20407016;20973064;20395433;19913121;20628086;21076843;21565829;20878580;21254649;21613799;22321642;20480266;21949998;22183444;22438955;22630347;23189844;22025325;22178867;22419890;22338226;22404079;22428065;22139647;22397871;23176145;23383207;22292753;23226455;23333633;23382691 8434 A8K9D8;O95980 ABBA01050435;ABBA01050436;ABBA01050437;AK022897;AK292653;AK315073;AL138834;AL158830;AMYH01019348;BC032240;BC050306;BC060806;BC137093;BX648668;CH471071;D50406;E13833;EF139848;JQ756320;NM_021111 AAH60806;AAI37094;BAA34060;BAF85342;BAG37543;EAW58318;EAW58319;NP_066934;O95980 Hs.388918 1336344;1688698;2179746;5014027 D13S1621;D6S438;RH28658;RH70038 ST15;hRECK OTTHUMP00000021369;membrane-anchored glycoprotein (metastasis and invasion);reversion-inducing cysteine-rich protein with Kazal motifs;suppression of tumorigenicity 15 (reversion-inducing-cysteine-rich protein with kazal motifs);suppression of tumorigenicity 5 (reversion-inducing-cysteine-rich protein with kazal motifs);suppressor of tumorigenicity 15 protein APPROVED protein-coding ENSG00000122707 11345 05567 605227 REVIEWED 1313134 REEP1 receptor accessory protein 1 This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 2 2 p11.2 86294633 86418288 - 86441116 86565206 - 737633;6480464;7240710 12477932 22703882;15550249;19072839;19034539;18644145;18321925;16826527;16720576;16344560;16271481;15815621;15489334;14702039;20718791;18364116;19161151;19781397;20200447;20379614;7829101;21618648;17979178;19322201 65055 E7ESS5;E7EUF7;F5H7Z9;F8W897;Q9H902 AB073662;ABBA01075775;ABBA01075776;ABBA01075777;AC009309;AC009408;AK022775;AK023172;AK294300;AK297201;AK297287;AK297359;AK297373;AK299334;AL080222;AMYH01010498;AY562239;BC064846;BC139746;BI493883;CH471053;CR457301;DA495719;DB078037;NG_013037;NM_001164730;NM_001164731;NM_001164732;NM_022912 AAH64846;AAI39747;AAT70684;AAX93132;BAB14444;BAH11727;BAH12523;BAH12538;BAH12561;BAH12565;BAH13005;CAG33582;EAW99457;EAW99458;NP_001158202;NP_001158203;NP_001158204;NP_075063;Q9H902 Hs.368884 1645579;1662241;1672028;1853258;2110969;2111003;2121150;2139702;2139704;2155840;2181270 A001V44;Cda0hf07;D2S1432;D2S1982;D2S204E;D2S234E;D2S2907;G16358;G19700;IB589;STS-M78559 C2orf23;FLJ13110;HMN5B;SPG31 OTTHUMP00000160708;OTTHUMP00000203312;OTTHUMP00000209557;OTTHUMP00000209558;chromosome 2 open reading frame 23;receptor expression-enhancing protein 1 APPROVED protein-coding ENSG00000068615 25786 07810 609139;610250;614751 REVIEWED 1317096 RECQL4 RecQ protein-like 4 The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010] 8 8 q24.3 145707479 145714008 - 145736667 145743210 - 1580863;1599421;6480464;7240710 10678659 15317757;9878247;10319867;19299466;19242607;19237606;19177149;18716613;18693251;18647888;18616953;18504617;18449888;18270339;17184169;16949575;16678792;16617241;16214424;16141230;15964893;15960976;15489334;15221963;15146197;12952869;12838562;12734318;12673665;12601557;12477932;12016592;11032027;10779560;10552928;133085;16169070;15674334;22508716;20451470;20222902;19270065;19451148;19567405;19696745;19805216;20065033;20301383;20301415;21045146;21256165;22296597;22730300;23382074;22039056;22017238;20360068;21436139;21906983;21044950;22824301;23238538;22357944;22544709;22885111 9401 O94761 AB006532;AB026546;AB026547;ABBA01005200;AC084125;AMYH01019156;BC011602;BC013277;BC020496;CH471162;CN286057;CN286060;DQ176868;NG_016430;NM_004260 AAH11602;AAH13277;AAZ85145;BAA74453;BAA86899;EAW82070;EAW82071;NP_004251;O94761 Hs.31442 1662469;1675644;1790455;1790457;1790459;1790461;1790463;1790699;1790701;1790703 LW11-12;LW21-6;LW29-2;LW5-26;LW61-40;LW_29-4;LW_52-69;LW_9-30;RH65331;WI-15870 RECQ4 ATP-dependent DNA helicase Q4;DNA helicase, RecQ-like type 4;DNA helicase, RecQ-like, type 4 APPROVED protein-coding 9949 04805 218600;266280;268400;603780 REVIEWED 1319692 REC8 REC8 meiotic recombination protein This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q11.2-q12 4505702 4513934 + 23711074 23719303 + 24641234 24649463 + 1580863;6480464 10207075;18570052;16344560;15935783;15489334;15125634;14702039;12759374;12667442;12477932;19463812;20378615;22318606 9985 H0YLK4;H0YM87;H0YMV7;O95072 AA496891;ABBA01061336;AF006264;AK001435;AK291191;AL136295;AL832973;AMYH01005610;BC004159;BC010887;BC019326;CH471078;CR457263;DB294585;NM_001048205;NM_005132 AAD01193;AAH04159;AAH10887;AAH19326;BAA91690;BAF83880;CAG33544;CAH56339;EAW66089;EAW66090;EAW66091;NP_001041670;NP_005123;O95072 Hs.419259 1778766;1849770;2117292;2117469;2137425;2178311;5017367 A001X04;A002A41;D14S689E;G36122;HSC0XG082;RH44766;RH78264 HR21spB;MGC950;REC8L1;Rec8p REC8 homolog;REC8-like 1;cohesin Rec8p;cohesion rec8p;human homolog of rad21, S. pombe;kleisin-alpha;meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family;meiotic recombination protein REC8 homolog;meiotic recombination protein REC8-like 1;rec8-like 1 (yeast);recombination and sister chromatid cohesion protein homolog APPROVED protein-coding ENSG00000100918 16879 09739 608193 REVIEWED 1348654 RDX radixin Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 11 11 q23 109605376 109672647 - 110045605 110167437 - 1580863;6480464;7240710 19255442;19215054;19152423;19129194;19124745;18941185;18295815;17825285;17725603;17515952;17237445;17226784;16889625;15489334;15313460;15252013;15178693;15149851;15096511;14568249;12734202;12522145;12499563;12477932;12385025;12360288;12226091;12070130;12068294;11375520;10816569;10806479;9681826;9501018;9472040;9456324;9430655;9348291;9287351;9184664;8889548;8858161;8486357;1429901;15818415;14499480;22089331;20679347;21047789;17321526;18029348;19615732;19754948;19830727;19890007;20855527;22179828;22939629;21160029;21278261;21352885;21182205;22863883;15840729;21864676;21278069;22132106;18781797;20639865;21139048;21659656;21890473;21906983;21963094;21987572;22053931;22505724;23000965;22291017;22685202;22891241;19322201;21282464;22469515;21837648;20301607;22467863;23116763;23326330;23503679;17349711;22631643 5962 B0YJ88;E9PKN5;E9PN07;E9PNP4;E9PNV3;E9PQ82;E9PRS5;H0YE16;P35241;Q6PKD3 ABBA01039834;ABBA01039835;ABBA01039836;ABBA01039837;ABBA01039838;ABBA01039839;AF086024;AK295075;AK312903;AK316061;AMYH01004026;AMYH01004027;AP000901;AP002788;BC002626;BC020751;BC029467;BC047109;BI600187;BX648536;CF124193;CF265114;CH471065;DQ916738;DQ916739;DQ916740;DQ916741;DQ916742;EF445024;L02320;N92548;NG_023044;NM_001260492;NM_001260493;NM_001260494;NM_001260495;NM_001260496;NM_002906 AAA36541;AAH02626;AAH20751;AAH29467;AAH47109;ABI34710;ABI34711;ABI34712;ABI34713;ABI34714;ACA06066;BAG35749;BAH11963;BAH14432;EAW67129;EAW67130;EAW67131;NP_001247421;NP_001247422;NP_001247423;NP_001247424;NP_001247425;NP_002897;P35241 Hs.263671;Hs.584560;Hs.741211 1334932;1656641;1675876;1681957;1685822;1690107;1710142;1775607;1778187;2108421;2126015;2133957;5017615;5120117;5124992 D11S927;GDB:196850;RDX;RDX_8589;RH115;RH27285;RH27475;RH27481;RH79199;RH80793;RH91872;SGC35288;SHGC-12842;SHGC-81559;WI-17994 DFNB24 OTTHUMP00000233538;OTTHUMP00000233539;OTTHUMP00000233540;OTTHUMP00000233543;radixin APPROVED protein-coding ENSG00000137710 9944 01534 179410;611022 REVIEWED 1322333 RECQL RecQ protein-like (DNA helicase Q1-like) The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq, Jul 2008] 12 12 p12 21513965 21545796 - 21621844 21654603 - 1580863;2317369;2317365;2317370;6480464 19768149;16540687;18422747 22356911;7961977;15886194;19151156;19147782;18495662;18448429;18074021;17953710;17483412;17227144;16520463;16344560;16260474;15899892;15489334;15146197;15096578;12477932;12419808;12419324;9168958;8889549;8056767;7607686;7527136;11799066;22542292;20644561;11562355;19177149;19494003;19536092;20065033;20198302;19759913;21059676;22863883;18029348;21752281;21252943;21139048;21890473;22705827;22586326;22053931;22174317;22190034;22797925 5965 F5GYB7;F5H2L2;F5H3W0;F5H4P4;F8WA66;F8WD97;P46063 ABBA01067969;AC006559;AK291627;AMYH01004319;AV718094;AY157499;BC001052;BE794392;BT007119;CA431135;CH471094;CN414472;CX784110;D37984;DA028052;DA547846;L36140;NM_002907;NM_032941;T94514 AAA60261;AAH01052;AAO61939;AAP35783;BAA07200;BAF84316;EAW96434;EAW96435;EAW96436;EAW96437;EAW96438;NP_002898;NP_116559;P46063 Hs.235069 1679958;1687750;1688036;1688182;1688831;1690712;1698616;1725595;1744925;2187302 G62019;GDB:581119;RH102863;RH39709;RH39888;RH65497;RH68343;RH79569;RH80431;RH93629 RECQL1;RecQ1 ATP-dependent DNA helicase Q1;DNA helicase Q1-like;DNA helicase, RecQ-like type 1;DNA-dependent ATPase Q1;OTTHUMP00000240142;OTTHUMP00000240143;recQ protein-like 1 APPROVED protein-coding ENSG00000004700 9948 02762 600537 REVIEWED 1321946 RECQL5 RecQ protein-like 5 The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] 17 17 q25 71134545 71174864 - 73622925 73663269 - 1580863;6480464 18562274;10471747;10710432;9878247;22633600;18419580;18290761;18003859;17003056;16344560;16169070;15489334;15241474;12477932;19270065;19570979;20081208;20231364;20348101;20643585;18029348;15342556;22990118;21402780;22939629;21890473;21145461;22645136;22973052;21988832;23180761 9400 B3KQK2;J3KRM6;J3KS37;J3KSL7;J3KSV9;J3KTQ2;J3QLU0;O94762;Q6P4G0;Q8WYH5 AB006533;AB042823;AB042824;AB042825;ABBA01028775;ABBA01028776;AC087749;AF135183;AF193041;AI537883;AI684041;AK075084;AK304168;AL136869;AMYH01008635;BC000570;BC005103;BC016911;BC042989;BC063440;BI116483;BP272369;CH471099;CR533497;DB091647;EF560729;N53539;NG_029617;NM_001003715;NM_001003716;NM_004259 AAD43061;AAD43062;AAG22469;AAH00570;AAH05103;AAH16911;AAH63440;ABQ59039;BAA74454;BAA95952;BAA95953;BAA95954;BAG52064;BAH14123;CAB66803;CAG38528;EAW89289;EAW89290;EAW89291;EAW89292;EAW89293;EAW89294;EAW89295;NP_001003715;NP_001003716;NP_004250;O94762 Hs.632229 1688080;1688082;1689213;1697944;1729831;1846568;2167578;2219622;5020946;5022200;5022651 D11S2921;D17S609;L17971;L18426;RECQL5__5478;RH102501;RH48367;RH78659;RH91261;RH91485;RH98978 FLJ90603;RECQ5 ATP-dependent DNA helicase Q5;DNA helicase, RecQ-like type 5;RecQ protein 5 APPROVED protein-coding ENSG00000108469 9950 04806 603781 REVIEWED 1319884 REEP6 receptor accessory protein 6 19 19 19 p13.3 1425157 1431938 + 1442165 1448924 + 1491165 1497924 + 737633;6480464 12477932 15489334;16271481;16189514;15550249;14702039;19924442;17207965;19913121;20628086 92840 A8MWX0;A8MXN1;Q96HR9 ABBA01002648;AC027307;AK058112;AK293919;AK315744;AMYH01009251;AX775999;AY562244;BC008201;CH471139;NM_138393 AAH08201;AAT70689;ADQ33209;BAB71670;BAG38098;BAG57300;CAE11699;EAW69491;EAW69492;EAW69493;NP_612402;Q96HR9 Hs.744099 1690045 RH92355 C19orf32;DP1L1;FLJ25383;TB2L1 OTTHUMP00000178555;OTTHUMP00000178556;OTTHUMP00000178792;deleted in polyposis 1-like 1;polyposis locus protein 1-like 1;receptor expression enhancing protein 6;receptor expression-enhancing protein 6 protein-coding ENSG00000115255 30078 16629 609346 PROVISIONAL 1315250 REEP4 receptor accessory protein 4 8 8 8 p21.3 20957454 20961369 - 22051478 22055393 - 21995533 21999448 - 737633;6480464 12477932 17081983;16271481;15550249;15498874;15489334;14702039;23000965;23505323;21139048;21890473;21906983 80346 E5RGS2;E5RIB5;E5RJV5;Q9H6H4 ABBA01005505;AC105206;AF218014;AK025899;AK025930;AK172846;AK302352;AMYH01018565;AY562242;BC013048;BC050622;CH471080;CR457353;NM_025232 AAG17256;AAH13048;AAH50622;AAT70687;ADZ16008;BAB15274;BAB15285;BAD18810;BAG63678;CAG33634;EAW63710;EAW63711;EAW63712;EAW63713;EAW63714;EAW63715;NP_079508;Q9H6H4 Hs.289063 1679802 RH92812 C8orf20;FLJ22246;FLJ22277;PP432 OTTHUMP00000162216;OTTHUMP00000224810;OTTHUMP00000224812;OTTHUMP00000224813;receptor expression enhancing protein 4;receptor expression-enhancing protein 4 protein-coding ENSG00000168476 26176 09864 609349 PROVISIONAL 1346917 REEP2 receptor accessory protein 2 This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 5 5 5 q31 133895609 133903492 + 137802675 137810557 + 137774776 137782658 + 6480464 16271481;15550249;15489334;14702039;12477932;11161817;9110174;8619474;8125298;22379092;20943918 51308 A8K3D2;B4DE60;D6RB42;H0YAC5;Q9BRK0 ABBA01068673;AC113403;AF070551;AF251041;AK056193;AK223611;AK290547;AK291101;AK293480;AMYH01015642;AY562240;BC006218;BC148256;CH471062;DC374786;DC424086;NM_001271803;NM_016606;NR_073448;NR_073449 AAF63767;AAH06218;AAT70685;ADZ15996;BAD97331;BAF83236;BAF83790;BAG51643;BAG56971;EAW62137;EAW62138;EAW62139;EAW62140;NP_001258732;NP_057690;Q9BRK0 Hs.416090 1848629 SGC32445 C5orf19;SGC32445 OTTHUMP00000159492;OTTHUMP00000159493;OTTHUMP00000224017;receptor expression enhancing protein 2;receptor expression-enhancing protein 2 protein-coding ENSG00000132563 17975 16655 609347 REVIEWED 1603350 REEP3 receptor accessory protein 3 10 10 10 q21.3 58548607 58652369 + 64951129 65051978 + 65281123 65384883 + 6480464 18940312;17290275;16271481;15550249;15489334;15164054;12477932;17207965;16385451;20379614;21890473;21906983;21987572;22354554;22936694;23000965 221035 Q6NUK4 ABBA01019504;AC022022;AC022387;AK289976;AL607062;AMYH01002778;AMYH01002779;AY562241;BC010040;BC018658;BC038724;BC057832;BC068557;CH471083;CR936686;CS320135;NM_001001330 AAH10040;AAH18658;AAH57832;AAH68557;AAT70686;ADQ32008;BAF82665;CAK96042;EAW54246;NP_001001330;Q6NUK4 Hs.499833 1650351;1854098;1855308 RH69842;SHGC-3980;STS-W16868 C10orf74;MGC87479 OTTHUMP00000019681;receptor expression enhancing protein 3;receptor expression-enhancing protein 3 protein-coding ENSG00000165476 23711 16582 609348 VALIDATED 737018 REG1A regenerating islet-derived 1 alpha This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008] 2 2 p12 79201092 79204053 + 79347584 79350545 + 1580863;6480464 10526060;19032369;18781363;18630596;18452172;18289358;18259819;18024479;17990360;16341674;15952740;15778284;15765400;15628732;15489334;15340161;15211106;15166487;15022278;14508825;12477932;12369899;11796176;11396963;10662590;10625646;10526250;10348814;9823399;8961348;8889549;8654365;2332435;8348956;8333731;8110835;8070617;8020983;3908481;3665916;3541906;3345835;3108036;2963000;2764894;2525567;2493268;2394826;2226837;19329938;20056108;20065946;20379614;20099282;20835340;21867979;21691750;20972946;23269672;21832049;21683984;22158612;22203215;21586335 5967 A8K7G6;P05451 ABBA01075666;AC017004;AC069387;AF172331;AK291981;AK307292;AMYH01010471;AW873911;BC005350;BC110438;BC118621;BM769434;CH471053;J05412;M18963;M27190;NG_023271;NM_002909;W38384 AAA36558;AAA36559;AAA60546;AAD51330;AAH05350;AAI10439;AAI18622;AAX88842;BAF84670;EAW99576;EAW99577;EAW99578;NP_002900;P05451 Hs.49407 1774846;2121317;5122420 D2S2645;RH68977;RH78218 ICRF;MGC12447;P19;PSP;PSPS;PSPS1;PTP;REG OTTHUMP00000160485;REG-1-alpha;islet cells regeneration factor;islet of langerhans regenerating protein;lithostathine 1 alpha;lithostathine-1-alpha;pancreatic stone protein, secretory;pancreatic thread protein;protein-X;regenerating islet-derived 1;regenerating islet-derived protein 1-alpha;regenerating protein I alpha APPROVED protein-coding ENSG00000115386 9951 01338 167770 REVIEWED 1314440 REEP5 receptor accessory protein 5 5 5 5 q22-q23 108157648 108203589 - 112239980 112285930 - 112212081 112258031 - 6480464 15489334;12477932;8647449;1678319;1659692;1651563;1651562;16762630;16344560;16271481;15550249;19913121;20628086;17207965;18839057;22795047;21103663;22379092;21900206;21139048;21693764;21890473;21906983 7905 B7Z332;B7Z510;B7Z681;E2QRG8;H0Y8J8;Q00765 ABBA01069050;ABBA01069051;ABBA01069052;AC008536;AC008575;AK294496;AK295436;AK298268;AK299902;AK310729;AK312522;AMYH01015548;AY562243;BC000232;BC065926;BX648005;CH471086;CQ859774;DA807043;M74090;NM_005669 AAA66351;AAH00232;AAH65926;AAT70688;ADQ32585;BAG35421;BAH11789;BAH12068;BAH12746;BAH13167;CAH25937;EAW48993;EAW48994;EAW48995;NP_005660;Q00765 Hs.429608 1646623;1680661;1680677;1729592;1780870;2114182;2132553;2135642;2142390;2146750;2158472;2179957;5015308 D5S2375;D5S2385;D5S2454;D5S346;G15921;RH12409;RH66507;RH71327;RH71328;RH80911;SGC30055;WI-15463;bac53117T C5orf18;D5S346;DP1;MGC70440;TB2;YOP1 OTTHUMP00000159020;OTTHUMP00000195052;OTTHUMP00000223351;deleted in polyposis 1;polyposis coli region hypothetical protein DP1;polyposis locus protein 1;receptor expression enhancing protein 5;receptor expression-enhancing protein 5 protein-coding ENSG00000129625 30077 15918 125265 VALIDATED 1346386 REG1B regenerating islet-derived 1 beta This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008] 2 2 p12 79165659 79168627 - 79312149 79315150 - 1580863;6480464 2963000;15489334;15342556;15340161;12477932;12369899;11796176;7607222;3665916;3541906;3108036;2764894;2525567;2493268;2394826;2332435;2226837;3908481;16169070;11396963;10625646;9814489;8961348;8654365;8549770;8348956;8333731;8110835;20056108;21586335;21900206;22018336;23553156 5968 H7BZ24;P48304;Q6ICS1 ABBA01075666;AC017004;AK308507;AK308515;AK312057;AMYH01010470;BC027895;BM310513;BP321590;CA867116;CH471053;CR450322;D16816;D17291;L08010;M27189;NM_006507 AAA18204;AAA60545;AAH27895;AAX88841;BAA04091;BAA04124;BAG34993;CAG29318;EAW99579;NP_006498;P48304 Hs.4158;Hs.708865 2154879;2166461;5122420 RH70262;RH78218;RH78902 PSPS2;REGH;REGI-BETA;REGL OTTHUMP00000160488;OTTHUMP00000202567;PSP-2;REG-1-beta;lithostathine 1 beta;lithostathine-1-beta;pancreatic stone protein 2;regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein);regenerating islet-derived protein 1-beta;regenerating protein I beta;secretory pancreatic stone protein 2 APPROVED protein-coding ENSG00000172023 9952 01339 167771 REVIEWED 1602338 REG1P regenerating islet-derived 1 pseudogene 2 2 2 p12 79191358 79194282 - 79216137 79219061 - 79362629 79365553 - 15556304;14702039;12477932;8549770;8333731 5969 ABBA01075666;AC069387;AK126561;AMYH01010471;BC118544;D56494;D56495;NR_002714 AAX93046;BAA09543;BAA09544 Hs.49407;Hs.584797;Hs.716255 5122420;5125301 RH78218;SGC35492 REGL;RS pseudo 9953 17965 PROVISIONAL 1604065 REG3A regenerating islet-derived 3 alpha This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Dec 2010] 2 2 p12 79237641 79240387 - 79384132 79386880 - 6480464 1325291;8997243;19254208;19158046;19095652;19077460;19051257;17998566;16963458;16931762;16116631;15489334;12890698;12477932;11278730;9151782;8188210;8076648;7721106;7679928;1469087;10662590;20536387;19416921;20201926;20382864;21643999;18192873;22727489;22943287 5068 Q06141;Q53S56 ABBA01075666;AC069387;AK291973;AK311523;AK311526;AMYH01010471;AY544128;AY544130;BC036776;BQ777112;CH471053;D13510;D30715;DC300833;L15533;M84337;NG_029902;NM_002580;NM_138937;NM_138938;S51768;X68641;X79988 AAA36415;AAA60020;AAB24642;AAH36776;AAT11159;AAT11161;AAX93047;ABM81643;ABM84823;BAA02728;BAA21104;BAF84662;CAA48605;EAW99570;EAW99571;EAW99572;NP_002571;NP_620354;NP_620355;Q06141 Hs.567312 1768774;5117901 D2S2561;GDB:631913 FLJ18565;HIP;HIP/PAP;INGAP;PAP;PAP-H;PAP1;PBCGF;REG-III;REG3 OTTHUMP00000160486;OTTHUMP00000202832;PAP homologous protein;REG-3-alpha;hepatocarcinoma-intestine-pancreas;hepatointestinal pancreatic protein;human proislet peptide;pancreatic beta cell growth factor;pancreatitis-associated protein 1;proliferation-inducing protein 34;proliferation-inducing protein 42;reg III-alpha;regenerating islet-derived protein 3-alpha;regenerating islet-derived protein III-alpha APPROVED protein-coding ENSG00000172016 8601 01342 167805 REVIEWED 1351031 REG3G regenerating islet-derived 3 gamma This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antibacterial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] 2 2 2 p12 79081561 79084366 + 79106334 79109139 + 79252812 79255630 + 6480464 15815621;15777617;15556304;15489334;15340161;12975309;12477932;22312430;16931762 130120 Q6UW15 AB161037;AB161038;AB161039;ABBA01075664;AC017004;AI025191;AK292595;AMYH01010470;AY359047;AY428734;BC103852;BC103853;BC103854;BI792387;BX280299;CH471053;CR541938;NM_001008387;NM_001270040;NM_198448 AAI03853;AAI03854;AAI03855;AAQ89406;AAR88147;AAX88840;BAD51394;BAD51395;BAD51396;BAF85284;CAG46736;EAW99580;EAW99581;NP_001008388;NP_001256969;NP_940850;Q6UW15 Hs.447084 LPPM429;MGC118998;MGC118999;MGC119001;PAP IB;PAP-1B;PAP1B;PAPIB;REG III;REG-III;UNQ429 LPPM429;OTTHUMP00000160487;OTTHUMP00000202565;OTTHUMP00000202566;PAP IB protein;PAP-1B;REG-3-gamma;pancreatitis-associated protein 1B;pancreatitis-associated protein IB;reg III-gamma;regenerating gene III;regenerating islet-derived protein 3-gamma;regenerating islet-derived protein III-gamma APPROVED protein-coding ENSG00000143954 29595 10137 609933 REVIEWED 1322580 REL v-rel avian reticuloendotheliosis viral oncogene homolog The REL gene encodes c-Rel, a transcription factor that is a member of the Rel/NFKB family, which also includes RELA (MIM 164014), RELB (604758), NFKB1 (MIM 164011), and NFKB2 (MIM 164012). These proteins are related through a highly conserved N-terminal region termed the 'Rel domain,' which is responsible for DNA binding, dimerization, nuclear localization, and binding to the NFKB inhibitor (MIM 164008) (Belguise and Sonenshein, 2007 [PubMed 18037997]).[supplied by OMIM, May 2008] 2 2 p13-p12 60962256 61003682 + 61108752 61150178 + 1580863;2292172;2300264;2300268;2300275;2300270;6480464;6484113 18267068;12897145;15481028;10713699;12452071 10498867;15799966;8423996;12761501;19240061;19110719;18990758;18695674;18660489;18593911;18466468;18434448;18089804;18037997;18006812;17335903;17243160;17011549;16896156;15870177;15660915;15578091;15551733;15146197;15143182;15024091;14961076;14744759;14743216;14615382;14534540;8415639;8413269;8413211;8152812;8139561;7933095;7929355;7886940;7862168;3529946;3016517;2666912;2155506;1891714;1740106;1727488;1650444;1620118;1577270;1549370;1437141;1406630;12504005;11971907;12829026;12588973;12556500;12511414;12478664;12477932;11967310;11830502;11830490;11587641;11254713;10706725;10602468;10562553;10329626;9950430;9837938;9769479;9731206;9639522;9510190;9135156;9058790;8666258;8621542;8547649;8670842;9315679;21283787;21490927;19913121;20628086;19948376;20575024;20519647;16319921;19503088;19573080;19773279;19945995;20038977;20190752;20228198;20448286;20228799;20453842;21102463;20568250;20876593;20953190;21037568;22580300;22955189;20460684;21402701;21425313;21498517;21933882;21890374;21984918;22065573;9250404;22170493;17962807;22412388;21451109;21988832;23128233;8887627;22459418;23195252;20801175 5966 Q04864;Q17RU2 AA279919;ABBA01075339;ABBA01075340;AC010733;AK303926;AMYH01010379;BC051005;BC117191;BC143885;BX111941;CH471053;CN414487;DQ314888;HI573896;L41414;M11595;NM_002908;X75042 AAA52073;AAI17192;AAI43886;ABC40747;BAG64854;CAA52954;CBX47437;EAX00028;NP_002899;Q04864 Hs.631886 1653037;1656452;1706166;1729087;5024039 D16S325;RH70902;Rel;SHGC-35444;SHGC-80607 C-Rel C-Rel proto-oncogene protein;OTTHUMP00000159786;OTTHUMP00000201246;oncogene REL, avian reticuloendotheliosis;proto-oncogene c-Rel;v-rel avian reticuloendotheliosis viral oncogene homolog;v-rel reticuloendotheliosis viral oncogene homolog APPROVED protein-coding ENSG00000162924 9954 01286 164910 VALIDATED 1352664 REG4 regenerating islet-derived family, member 4 1 1 p13.1-p12 120138231 120155726 - 120336641 120354203 - 1580863;6480464 21494603;19143768;19136934;19082448;19076683;18754868;18580680;18505053;18187959;16918991;16710414;16401477;16323007;15788672;15489334;15340161;14702039;14550954;12819006;12477932;12455032;11311942;20349522;20126989;19329938;19546835;19716164;19740514;19789838;19834624;19900450;19924642;20183800;20417867;20692269;22957785;21419474;21780125;22199273;21445968;23133598;22713481;23010741;22430847 83998 E9PNV6;Q9BYZ8 ABBA01068518;AF254415;AF345934;AK057107;AL359752;AMYH01000980;AY007243;AY126670;AY126671;AY126672;BC017089;BF242936;CH471122;CS288402;NM_001159352;NM_001159353;NM_032044 AAG02562;AAH17089;AAK48435;AAK59869;AAM95598;AAM95599;AAM95600;ABM82693;ABM85877;CAK22302;EAW56711;EAW56712;EAW56713;EAW56714;NP_001152824;NP_001152825;NP_114433;Q9BYZ8 Hs.660883 1692306;1766423 AL033808;SHGC-149761 GISP;REG-IV;RELP OTTHUMP00000014030;OTTHUMP00000014031;OTTHUMP00000014033;OTTHUMP00000229795;REG-4;REG-like protein;gastrointestinal secretory protein;reg IV;regenerating gene type IV;regenerating islet-derived protein 4;regenerating islet-derived protein IV protein-coding ENSG00000134193 22977 17964 609846 VALIDATED 1313209 RELL2 RELT-like 2 5 5 5 q31.3 137093245 137097359 + 140996779 141000815 + 141016517 141020631 + 737633;6480464 12477932 16389068;16303743;15489334;14702039;12975309;19969290;22379092 285613 E5RFS6;E5RHA7;Q8NC24 ABBA01026405;AC008781;AK054889;AK075064;AMYH01015661;AY358163;BC009560;BC027919;BC063469;CH471062;CQ783064;NG_029678;NM_001130029;NM_173828 AAH63469;AAQ88530;BAC11380;CAF86269;EAW61911;EAW61912;EAW61913;EAW61914;NP_001123501;NP_776189;Q8NC24 Hs.120094 1770166;2136778 SGC30748;SHGC-58411 C5orf16;FLJ90583 OTTHUMP00000160012;OTTHUMP00000224540;RELT-like protein 2;chromosome 5 open reading frame 16;receptor expressed in lymphoid tissues like 2 protein-coding ENSG00000164620 26902 12830 611213 VALIDATED 735880 RELN reelin This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 7 7 q22 102899473 103417198 - 103112231 103629963 - 1358567;1580863;1358346;1358468;2324615;2317777;2317957;2317783;729771;634730;2317926;2317958;2317973;1358410;2324681;6480464;6484113;6907045;7240710 15749247;12893944;12764038;7715726;18449964;9861036;17314278;12645087;10436054;12122039;15961543;15820235;10973257;11126396 19401682;19230858;19156168;19086053;19058789;19054571;19010793;18599960;18597938;18593473;18384059;18282107;17955477;17870056;17696989;17684500;17621165;17548821;17431900;17366345;17365098;17360894;17310238;16979599;16951405;16941662;16556465;16510495;16481437;16472607;16266828;15965968;15790807;15718228;15690491;15655250;15558079;15464360;15048648;15048647;15006702;14702039;14515139;12931209;12899622;12853948;12834112;12690205;12670700;12399956;12376533;12363388;12363196;12192627;12167620;12143388;12135781;12087179;12082559;11880184;11711858;11689558;11520926;11408330;11317216;11137154;21630058;10612399;10571241;10571240;21145461;22614235;10328932;9847074;9049633;20554015;20554749;20642811;20697953;20727978;21814183;20659411;19436241;19633980;19691043;19713529;19720620;19847460;19922905;19936619;19948739;19956836;20010491;20025970;20150511;20379614;20431428;20434133;20436377;20442744;20452100;20468075;20882487;21603580;20053715;20064940;21315259;20734148;21395570;20847288;21549172;21844191;22023759;22495348;21863557;22006801;22006802;22393371;22394407;22419519;23216241;23274163;23082219;22933789;22797278;23236151 5649 H7C2B0;J3KQ66;P78509 AACC02000005;ABBA01057979;ABBA01057980;ABBA01057981;ABBA01057982;ABBA01057983;ABBA01057984;ABBA01057985;AC000121;AC002067;AC005064;AC005101;AC006316;AC006981;AC010126;AC073208;AC079918;AK093843;AK293863;AK297459;AMYH01017812;AMYH01017813;AY101601;AY927583;CH236947;CH471070;NG_011877;NM_005045;NM_173054;U79716 AAB46357;AAC51105;AAD29127;AAI72269;AAM49151;AAM51648;AAP22330;AAP22355;AAQ96860;AAS02019;BAG57256;BAG59882;EAL24410;EAL24411;EAW83336;EAW83337;EAW83338;NP_005036;NP_774959;P78509 Hs.655654 1298158;1341951;1662456;1663779;1696422;1716965;1754479;1774639;1787720;1788270;1796668;2115810;2118401;2120514;2142824;2143501;2164731;2166142;2184548;5125512;7183755;7185151;7185366;7186836 A008X27;AFM211ZB8;AFMB316ZD5;D7S1663;D7S2504;D7S3120;D7S796;D7S818;G17191;RELN;RELN_772;RH121863;RH12772;RH68525;SHGC-132750;SHGC-173033;SHGC-32029;SHGC-83349;STS-AA010356;WI-11169 LIS2;PRO1598;RL OTTHUMP00000211830;OTTHUMP00000211831;reelin APPROVED protein-coding ENSG00000189056 9957 02742 257320;600514 REVIEWED 1625842 RELL1 RELT-like 1 4 4 4 p14 38031897 38127507 - 37268817 37364394 - 37592422 37687999 - 6480464 16389068;16344560;16303743;12477932;18029348;19969290;20379614;21139048;21906983;23382691 768211 D6RBN9;Q8IUW5 ABBA01074308;ABBA01074309;ABBA01074310;ABBA01074311;AC027607;AC108022;AI016583;AK025431;AK075468;AMYH01014111;AMYH01014112;BC039540;CH471069;DA400382;DA491231;NM_001085399;NM_001085400 AAH39540;AAY41016;BAC11638;EAW92885;NP_001078868;NP_001078869;Q8IUW5 Hs.283378 1716467;1749537;2137939;2141024;2155785;2156508;5014051;5015619;5015881;5015961;5022463;5022651;5037552 D11S2921;D11S3114;D15S1477;D3S1673;D4S2544E;D8S2278;D8S2279;GDB:335751;RH121413;SHGC-111243;SHGC-16480;SHGC-59841;STS-H93265 FLJ21778;MGC50583 OTTHUMP00000218143;OTTHUMP00000218144;OTTHUMP00000218145;RELT-like protein 1;receptor expressed in lymphoid tissues like 1;tmp_locus_29 protein-coding ENSG00000181826 27379 611212 VALIDATED 1352761 RELA v-rel avian reticuloendotheliosis viral oncogene homolog A NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 11 11 q13 65178393 65186951 - 65421067 65430443 - 1580863;2298759;2292172;2298787;2298767;2298780;2298781;2298789;2298892;2298753;2298768;2298771;2298775;2298776;2298862;2298752;2298860;2298762;2302394;2298773;2298777;2298843;2298852;2298761;2298763;2298764;2298765;2298769;2298849;2298755;2298756;2298757;2298778;2298842;2293094;2298840;2298779;2298853;2298859;2298754;2298774;2298841;2298891;2302392;2298856;2298858;2298857;5147676;5135028;6480464;6484113;6907045 16850495;18267068;18288455;16278667;18500427;18469645;18241655;9918209;18188593;15712212;12663495;18633731;18623154;17013605;18314621;18073321;16728586;17250675;18636044;18621400;17934115;17727632;16840655;16322341;16288051;16287968;15570007;17918744;17290398;17098279;17020979;18590723;17950078;18089718;18032469;18543397;17626913;18077597;17375183;18637019;17950083;9047386;18534259;18356846;18087711;18198644;16006567;21643627 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5970 E9PI38;E9PJR1;E9PJZ9;E9PKH5;E9PKV4;E9PM47;E9PMD5;E9PN69;E9PNK5;E9PNV4;E9PQS6;E9PRX2;E9PSE4;H0YCB4;Q04206;Q2TAM5 ABBA01024108;AK303262;AK308020;AK308478;AMYH01003723;AP001362;AY455868;BC011603;BC014095;BC033522;BC069248;BC110830;BM916512;BU633061;CH471076;DA020095;L19067;M62399;NG_029971;NM_001145138;NM_001243984;NM_001243985;NM_021975;U33838;Z22948;Z22951 AAA20946;AAA36408;AAA92888;AAH11603;AAH14095;AAH33522;AAI10831;AAR13863;BAG64344;CAA80524;EAW74424;EAW74425;EAW74426;NP_001138610;NP_001230913;NP_001230914;NP_068810;Q04206 Hs.502875 1705504;1729089;2150148;2158379 NFKB3;RH44538;SHGC-83845;UniSTS:144339 MGC131774;NFKB3;p65 NF-kappa-B p65delta3;OTTHUMP00000233473;OTTHUMP00000233474;OTTHUMP00000233475;OTTHUMP00000233476;OTTHUMP00000233900;nuclear factor NF-kappa-B p65 subunit;nuclear factor of kappa light polypeptide gene enhancer in B-cells 3;transcription factor p65;v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (p65));v-rel reticuloendotheliosis viral oncogene homolog A;v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 APPROVED protein-coding ENSG00000173039 9955 01241 164014 REVIEWED 1344723 RENS1 Renpenning syndrome 1 7240710 7211958 5974 9960 309500 1353425 RENS2 Renpenning syndrome 2 (Renpenning-like syndrome) 5975 9961 1353567 RELB v-rel avian reticuloendotheliosis viral oncogene homolog B 19 19 q13.32 50196552 50233292 + 45504707 45541456 + 1580863;2292172;6480464;6484113;6907045 18267068 10384093;10225209;10207088;9792375;9730685;9566873;9525916;9510190;9278385;9110146;8834464;8724035;8709193;8676466;8627654;8615004;8441398;8207793;8183565;8113688;7859743;7838536;7800480;7729429;7690421;7494249;1583734;1531086;1505523;14678988;10393859;15799966;1577270;8188306;19433448;19373868;19351823;19131627;19020113;18688039;18660489;18466468;18434448;17900530;17823304;17446175;16960152;16951372;16902410;16551621;16261162;16107733;15596805;15489334;15315978;15265917;14743216;12874295;12820969;12505990;12485413;12482669;12477932;12473373;12427593;12365017;12167619;11833470;11827962;11704662;11687592;11579140;11522182;11511100;11385624;11299302;11241736;11160671;11044099;10799874;10671224;10644726;10644332;10580107;10540217;10480634;10446807;10400814;18620544;19913121;20628086;16982744;20568250;19219072;21062507;20460684;17183367;19573080;19655301;19690169;19773279;19903458;20353939;20448286;20564628;16344560;8889548;20844054;21217772;14707079;21310030;22734038;21640702;21873235;22777360;22780967;21856005;21139048;22065573;22485186;22968463;21884980;22396550;22403723;22388891;22864569;17962807;22318606;22894897;23236068;21988832;23548901 5971 D6R992;D6RIV7;K7ERX9;Q01201 ABBA01040900;ABBA01040901;ABBA01040902;ABBA01040903;ABBA01040904;ABBA01040905;ABBA01040906;ABBA01040907;AC011489;AF043463;AK290594;AL583128;AMYH01009847;AW137991;BC028013;BI906507;BM684710;CH471126;DA940587;DQ314887;M83221;NM_006509 AAA36127;AAC82346;AAH28013;ABC40746;BAF83283;EAW57316;NP_006500;Q01201 Hs.654402 2110701;5014471 RELB_8590;WI-12248 I-REL;IREL;REL-B OTTHUMP00000221312;OTTHUMP00000221313;transcription factor RelB;v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3);v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 APPROVED protein-coding ENSG00000104856 9956 06886 604758 VALIDATED 1315248 REM1 RAS (RAD and GEM)-like GTP-binding 1 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 26819299 26828898 + 29526766 29536369 + 30063105 30072708 + 1580863;6480464 17686775;16648185;15489334;14623965;12477932;11780052;10831614;10441394;22939629 28954 O75628 ABBA01019309;ABBA01019310;AF084465;AF152863;AK313060;AL121751;AMYH01011829;BC039813;BT020078;BT020079;CH471077;NM_014012 AAC33132;AAF74212;AAH39813;AAV38881;AAV38882;BAG35890;EAW76439;EAW76440;EAW76441;EAW76442;NP_054731;O75628 Hs.247729 1337554;1689069 D20S484;RH91899 GD:REM;GES;MGC48669;REM GTP-binding protein REM 1;GTPase GES;GTPase-regulating endothelial cell sprouting;OTTHUMP00000030521;rad and Gem-like GTP-binding protein 1 APPROVED protein-coding ENSG00000088320 15922 15237 610388 REVIEWED 2306721 REP15 RAB15 effector protein REP15 is a binding partner of the RAB GTPase family member RAB15 that facilitates transferrin receptor (TFRC; MIM 190010) recycling from the endocytic recycling compartment (Strick and Elferink, 2005 [PubMed 16195351]).[supplied by OMIM, Mar 2008] 12 12 12 p11.22 32995018 32996156 + 27740695 27741833 + 27849428 27850566 + 6480464 16195351;12477932 387849 Q6BDI9 ABBA01068049;AC009509;AMYH01004351;AY662682;BC140921;NM_001029874 AAI40922;AAT76304;NP_001025045;Q6BDI9 Hs.269836 1680170 RH99304 RAB15EP OTTHUMP00000240419;rab15 effector protein APPROVED protein-coding ENSG00000174236 33748 610848 PROVISIONAL 1347617 REPIN1 replication initiator 1 7 7 q36.1 149696812 149702066 + 150065879 150071133 + 737633;6480464 12477932 16751776;10606657;16924111;16344560;15489334;15146197;12853948;11328883;8355269;8125298;2247056;2174103;20727851;16540471;18338249;20811636;22863883;18029348 29803 C9J0L4;C9J3L7;C9J590;C9J7D4;C9J7L2;C9JYJ8;C9JZE3;E5RK52;E7EVL6;Q9BWE0 AACC02000108;ABBA01035189;AC005586;AF201303;AJ245553;AK025356;AK225227;AK226081;AK292670;AL046625;AMYH01018139;BC000363;BC001760;CA449524;CH471173;CN386958;CX166683;CX756128;DB161182;DQ582093;DQ594555;NM_001099695;NM_001099696;NM_013400;NM_014374 AAF26712;AAH00363;AAH01760;AAS00385;AAS00386;ABZ92325;BAF85359;CAB53100;EAL24474;EAL24475;EAW54114;EAW54117;EAW54118;EAW54119;NP_001093165;NP_001093166;NP_037532;NP_055189;Q9BWE0 Hs.647086 1699422;2110703;2117693 D7S2895;REPIN1__6918;RH103302 AP4;RIP60;ZNF464;Zfp464 60 kDa origin-specific DNA-binding protein;60 kDa replication initiation region protein;ATT-binding protein;DHFR oribeta-binding protein RIP60;H_DJ0584D14.12;OTTHUMP00000212806;OTTHUMP00000212807;OTTHUMP00000212808;OTTHUMP00000212809;OTTHUMP00000212810;OTTHUMP00000212811;OTTHUMP00000212814;OTTHUMP00000225688;replication initiation region protein (60kD);replication initiator 1;zinc finger protein 464 (RIP60);zinc finger protein AP4;zinc finger proten AP4 protein-coding ENSG00000214022 17922 17966 VALIDATED 1313376 RELT RELT tumor necrosis factor receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 11 11 11 q13.4 70392805 70413911 + 72765053 72786167 + 73087405 73108519 + 1580863;6480464 16950202;16547002;16389068;15489334;15340161;14702039;12477932;11313261;16530727;19969290 84957 F5GYS9;F5H2T5;Q969Z4 ABBA01017522;AF319553;AK027899;AK057036;AK074128;AK310103;AMYH01003802;AP000562;AP000763;BC001812;BC017279;BC051810;CH471076;NM_032871;NM_152222 AAH17279;AAH51810;AAK77356;ABM83544;ABM86784;BAB55441;BAB84954;BAG51848;EAW74892;EAW74893;EAW74894;EAW74895;EAW74896;EAW74897;EAW74898;NP_116260;NP_689408;Q969Z4 Hs.533720 1658733;1667247;2129548 RH11512;RH47066;WI-18544 FLJ14993;TNFRSF19L;TRLT OTTHUMP00000237525;OTTHUMP00000237533;receptor expressed in lymphoid tissues;tumor necrosis factor receptor superfamily member 19L;tumor necrosis factor receptor superfamily, member 19-like APPROVED protein-coding ENSG00000054967 13764 15544 611211 REVIEWED 733550 REM2 RAS (RAD and GEM)-like GTP binding 2 14 14 14 q11.2 3215328 3219787 + 22422272 22426729 + 23352432 23356889 + 6480464 21485012;18056257;15728182;15489334;14702039;12477932;11181995;10727423;22815963;20231315;21980534;21044950 161253 B7Z5P1;Q8IYK8 ABBA01061288;AK096283;AK299238;AL135998;AMYH01005600;BC035663;CH471078;NM_173527 AAH35663;BAC04746;BAH12977;EAW66231;NP_775798;Q8IYK8 Hs.444911 1701396;2162000 G31058;RH104328 FLJ38964 GTP-binding protein REM 2;OTTHUMP00000243389;Rad and Gem-related 2 (rat homolog);rad and Gem-like GTP-binding protein 2;rad and gem related gtp binding protein 2 APPROVED protein-coding ENSG00000139890 20248 08248 VALIDATED 4109779 REREP3 arginine-glutamic acid dipeptide (RE) repeats pseudogene 3 15 15 q11.2 20046847 20072491 + 22546565 22570831 + 646396 ABBA01004289;ABBA01004290;ABBA01004291;ABBA01150897;AC025884;AMYH01006365;DN831801;DW010002;NR_033735 Hs.451294 1692434 AL033866 pseudo 38797 VALIDATED 1347143 REPS2 RALBP1 associated Eps domain containing 2 The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X p22.2 16874735 17081324 + 16964814 17171403 + 6480464 15809337;9928989;9422736;18474607;18029348;15707977;15455380;15184881;14702039;12775724;12771942;12149250;11882656;10557078;10393179;19776672;15604093;18647389;10764745 9185 B4DQQ8;Q8NFH8 AB208937;ABBA01071493;ABBA01071494;ABBA01071495;ABBA01071496;ABBA01071497;ABBA01071498;ABBA01071499;ABBA01071500;ABBA01071501;ABBA01071502;ABBA01071503;ABBA01071504;ABBA01071505;ABBA01071506;ABBA01071507;ABBA01071508;ABBA01071509;ABBA01071510;ABBA01071511;ABBA01071512;ABBA01071513;ABBA01071514;ABBA01071515;ABBA01071516;ABBA01071517;ABBA01071518;ABBA01071519;AF010233;AF511533;AF512951;AI221053;AK057127;AK097484;AK298913;AL732371;AL929302;AMYH01022114;AMYH01022115;AMYH01022116;AMYH01022117;CH471074;NG_012557;NM_001080975;NM_004726 AAC02901;AAM43933;AAM43953;BAD92174;BAG61020;EAW98922;EAW98923;NP_001074444;NP_004717;Q8NFH8 Hs.186810 1695392;1702392;1759539;1761283;1761331;1766917;2129354;2162114;2220278;5118506 AB056347;D11S3374;DXS1391;DXS9765;L77321;SHGC-145288;SHGC-145340;SHGC-151217;SHGC-152393;SHGC-68499 POB1 OTTHUMP00000022995;OTTHUMP00000196581;RALBP1-interacting protein 2;partner of Ral-binding protein 1;partner of RalBP1;ralBP1-associated Eps domain-containing protein 2 APPROVED protein-coding ENSG00000169891 9963 02262 300317 REVIEWED 6481330 RERG-AS1 RERG antisense RNA 1 100873980 AC007543;AW197661;BF508473 Hs.569154 APPROVED miscrna 39990 6481120 RERG-IT1 RERG intronic transcript 1 (non-protein coding) 100874290 AC007543 miscrna 39991 736366 REN renin Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008] 1 1 q32 202390571 202402088 - 204123944 204135465 - 1580671;1580697;1580698;1581742;1581739;1598878;1579795;1580863;2311695;6480464;6892690;6771379;6771378;6892702;6892655;6892688;6892701;6892687;6784503;6784501;6907045;7240710 16467505;16138564;12854169;15638741;16672920;16116425;15489960;19509012;22266601;22796710;15367398;21906029;22493079;22378822;21911268;1759997;22648117;22681982 20884641;22136493;12045255;7584914;18029348;19243623;19144755;19126660;19082699;19073901;19023100;18953568;18922597;18856058;18794727;18722896;18718746;18698213;18632798;18519826;18508487;18486430;18483152;18325076;18260994;18259612;18212269;18205094;18202178;18192836;18188989;18175911;18091737;18077515;17785633;17703434;17693975;17660193;17562974;17546276;17485830;17476284;17455195;17416596;17158202;16990260;16940215;16933186;16790508;16710414;16672053;16615274;16446393;16396763;16375820;16189286;16036389;15914769;15914614;15739123;15662219;15489334;15368359;15342556;15075192;15015130;14530292;12933794;12862204;12736712;12695419;12684512;12613527;12569263;12556231;12544508;12477932;12473863;12431445;12431442;12394950;12186695;11967817;11847188;11803527;11800056;11776100;11751703;11409653;11224002;11098137;11015597;9933256;9928950;8901832;8735181;8494607;8387539;8344672;6398949;6391881;6324167;6138751;6091130;6089171;3542996;3530608;3516796;3297510;3288503;3066525;3032746;2960682;2540188;2493678;2450565;2203348;2186807;2061332;2017226;2016271;1608447;1597471;11903315;16169070;22575890;20429690;19913121;20223792;20577119;20628086;20662730;20673868;20502328;21084044;17207965;20925572;20861226;19369955;19473121;19513539;19536175;19664745;19673942;19716087;19733264;19759335;19761684;19891555;20160196;20201926;20379614;20452482;20486282;20529973;20537141;20619546;21424086;21576655;20826507;21712789;21697610;20702505;21163863;21330419;21330422;21340620;21521263;21111986;21036942;22042811;17851801;21490026;21881521;21941204;21941205;22396488;22022827;22695510;21443456;21831501;21742440;21473025;21659414;22453004;23111329;22721990;22676457 5972 P00797 ABBA01027450;ABBA01027451;AF117822;AL592114;AL592146;AMYH01001661;AY436324;BC033474;BC047752;BP321283;CH471067;CR536498;EU332871;L00064;L00073;M10152;M13253;M15410;M26440;M26901;NG_012122;NM_000537;X00063 AAA60262;AAA60263;AAA60363;AAA60364;AAA60365;AAD03461;AAD26254;AAH33474;AAH47752;AAR03502;ABY87560;ADQ33130;CAA24937;CAG38737;EAW91505;NP_000528;P00797 Hs.3210 1741563;1741843;1768589;1784932;2130394 GDB:181533;GDB:185507;SHGC-101663;SHGC-76202;SHGC-76203 FLJ10761;HNFJ2 OTTHUMP00000034311;angiotensin-forming enzyme;angiotensinogenase;renin;renin 1;renin precursor, renal APPROVED protein-coding ENSG00000143839 9958 01564 179820;267430;613092 REVIEWED 732186 RENBP renin binding protein The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008] X X q28 152853917 152863426 - 153200722 153210232 - 1580863;1300048;5132613;6480464;6907045 11726282 9285790;18029348;16189514;15489334;12612874;12499362;12477932;12446192;12394950;11926999;11467860;11256614;11098137;9990133;9305888;8088804;7721097;6756682;3924907;1723410;1618798;19913121;20628086;20486282 5973 A6NKZ2;F8WE83;H7C1A7;H7C2G7;H7C317;P51606 ABBA01045335;ABBA01045336;AK298125;AMYH01023304;BC015558;CH471172;D10232;D10711;NG_012522;NM_002910;U52112 AAH15558;ABM83196;ABM86397;BAA01082;BAG60405;EAW72771;EAW72772;NP_002901;P51606 Hs.158331 1656793;1745105;1801026;1802238;1805318;1806938;1807152;1828234;1829048;1835564;1840386;2034442;2034444;2034446;2034448;2034450;2034452;2034454;2034456;2034458;2034460;2034462;2034464;2034466;2034468;2034470;2034472;2034474;2034476;2034478;2034480;2034482;2034484;2034486;2034488;2034490;2034492;2034494;2034496;2034498;2034500;2034502;2034504;2034506;2034508;2034510;2034512;2034514;2034516;2034518;2102132;2102134;2102136;2102138;2102140;2102142;2102144 ECD01379;ECD02002;ECD03606;ECD04434;ECD04542;ECD15242;ECD15651;ECD18938;ECD21378;GDB:594112;REN88230;REN88231;REN88232;REN88233;REN88234;REN88235;REN88236;REN88237;REN88238;REN88239;REN88240;REN88241;REN88242;REN88243;REN88244;REN88245;REN88246;REN88247;REN88248;REN88249;REN88250;REN88251;REN88252;REN88253;REN88254;REN88255;REN88256;REN88257;REN88258;REN88259;REN88260;REN88261;REN88262;REN88263;REN88264;REN88265;REN88266;REN88267;REN88268;RH17361;stSG603705;stSG603707;stSG603708;stSG603710;stSG603711;stSG603712;stSG603713 RBP;RNBP AGE;GlcNAc 2-epimerase;N-acetyl-D-glucosamine 2-epimerase;N-acylglucosamine 2-epimerase;OTTHUMP00000025998;OTTHUMP00000026000;renin-binding protein APPROVED protein-coding ENSG00000102032 9959 02423 312420 REVIEWED 2305853 RESP18 regulated endocrine-specific protein 18 2 2 2 q35 213962131 213967896 - 219900375 219906143 - 220192131 220197899 - 6480464 17951542;7988462 389075 A8MW94;Q5W5W9 ABBA01023842;AC114803;AF437883;AF439399;AMYH01011507;CH471063;DQ227570;NM_001007089 AAQ04480;AAQ04549;ABB13523;EAW70727;NP_001007090;Q5W5W9 Hs.290551 OTTHUMP00000196641;regulated endocrine-specific protein 18;regulated endocrine-specific protein 18 homolog APPROVED protein-coding ENSG00000182698 33762 17968 612721 VALIDATED 1602860 RERGL RERG/RAS-like 12 12 12 p12.3 23379334 23388645 - 18125070 18134381 - 18233803 18243114 - 6480464 12477932 79785 F5H686;G5EA41;Q9H628 ABBA01067922;AC073504;AC087320;AK026308;AMYH01004308;BC042888;CH471094;NM_024730 AAH42888;ACT64546;ACT64547;BAB15439;EAW96384;EAW96385;EAW96386;NP_079006;Q9H628 Hs.732831 1675503;1675864;1704030;1706716;1723351 RH118492;RH80202;RH93985;SHGC-77817;SHGC-82864 FLJ22655 OTTHUMP00000239533;OTTHUMP00000239534;RERG/Ras-like protein;ras-related and estrogen-regulated growth inhibitor-like protein protein-coding ENSG00000111404 26213 08659 PROVISIONAL 1351700 RER1 RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009] 1 1 1 p36 249823 263535 - 2313074 2326734 + 2323214 2336883 + 737633;1580863;6480464 12477932 9309388;17668005;15489334;14702039;16169070;16344560;8889548;23129766;23043097;21139048;21890473;21906983;23000965;23246001;23479743;22190034 11079 O15258;Q5T091;Q5T092;Q5T093;Q5T094 ABBA01016094;ABBA01016095;AF091071;AF157324;AJ001421;AK095750;AK289658;AL513477;AMYH01000172;AMYH01000173;BC004965;BC025684;BM682824;BT007224;CH471183;CR456806;DA409924;NG_016128;NM_007033 AAC72940;AAF67490;AAH04965;AAP35888;ADZ15502;BAF82347;CAA04754;CAG33087;EAW56109;EAW56110;EAW56111;EAW56112;EAW56113;EAW56114;NP_008964;O15258 Hs.525527 1646801;1651774;1671281;1796504;2137747;5019034;5114767 G43268;PEX10_1028;RH11651;SHGC-30638;SHGC-74082;SHGC-74114;STS-AA029578 RP4-740C4.2 OTTHUMP00000001502;OTTHUMP00000001503;OTTHUMP00000039098;OTTHUMP00000039099;protein RER1 APPROVED protein-coding 30309 17967 REVIEWED 1316142 REPS1 RALBP1 associated Eps domain containing 1 6 6 6 q24.1 139965691 140049451 - 139267313 139351091 - 139225620 139309398 - 6480464 17273774;17143522;17081983;15489334;12621024;12477932;12364336;11750063;9422736;9395447;7623849;20946875;22558309;16055720;19380743 85021 E9PMG1;F2Z3L2;H0YCF0;H0YCR2;H0YDT0;H0YE73;H0YE89;H7C1V2;H7C225;J3KP76;Q8WU62 AA706721;AB209143;ABBA01025802;AF251052;AI879474;AJ420514;AK312938;AL121834;AL590308;AL591033;AL831900;AL832307;AMYH01016705;AMYH01016706;BC012764;BC021211;BC035286;CA424106;CH471051;NM_001128617;NM_031922 AAH12764;AAH21211;AAK34942;ABM84259;ABM86875;BAD92380;BAG35780;CAD38569;EAW47903;EAW47904;EAW47905;EAW47906;EAW47907;NP_001122089;NP_114128;Q96D71 Hs.334603 1648754;1667549;1671837;1726353;1748861;1751297;2134067;2147491;2157084;5093680 A009U44;G32860;G62477;RH16160;RH36111;RH48120;SHGC-105135;SHGC-110524;SHGC-64068;STS-AA025663 RALBP1 OTTHUMP00000017305;OTTHUMP00000017306;OTTHUMP00000017307;OTTHUMP00000017308;OTTHUMP00000236512;OTTHUMP00000236524;ralBP1-associated Eps domain-containing protein 1;ralBP1-interacting protein 1 protein-coding ENSG00000135597 15578 09687 614825 VALIDATED 1351972 RETNLG resistin like gamma 373068 AJ514933 22961 1349252 RERG RAS-like, estrogen-regulated, growth inhibitor RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009] 12 12 12 p12.3 20405694 20519355 - 15151984 15265571 - 15260716 15374411 - 1580863;6480464 11533059;18676680;15489334;12477932;19170196;19625176;19692168;17207965;20697807;18029348;21270509 85004 F5GWE9;F5GYR1;F5H252;Q96A58 ABBA01067888;AC007543;AC022334;AF339750;AI125943;AK295343;AK311016;AK313881;AMYH01004304;BC007997;CH471094;DC331754;NM_001190726;NM_032918 AAH07997;AAK98530;ABM84118;ADQ31628;BAG36607;BAG58314;EAW96345;EAW96346;NP_001177655;NP_116307;Q96A58 Hs.199487 1337338;1723895;1725927;1761179;2162763;2170524 A004W33;Bda17c02;D12S62;G62340;RH118683;SHGC-145192 MGC15754 OTTHUMP00000239348;OTTHUMP00000239349;OTTHUMP00000239350;OTTHUMP00000239351;OTTHUMP00000239353;ras-related and estrogen-regulated growth inhibitor APPROVED protein-coding ENSG00000134533 15980 15238 612664 VALIDATED 1344336 RERE arginine-glutamic acid dipeptide (RE) repeats This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.23 7520570 7986441 - 8335051 8800286 - 8412464 8877699 - 1580863;6480464 10814707;18597038;17081983;16713569;16710414;16344560;16303743;15302935;14702039;14645126;12766061;12477932;12107413;11782456;11331249;10729226;19322201;9455484;20379614;20410501;18029348;20211142;20548946;16481466;18451879;21139048;21890473;21926974;21258344;22504420;23000965;23453885;19131340 473 B1AKN3;D6RA28;H0Y975;H7BYW9;K7EIE3;K7EIQ4;K7EJQ1;Q9P2R6 AB007927;AB036737;ABBA01035515;ABBA01035516;ABBA01035517;ABBA01035518;ABBA01035519;ABBA01035520;ABBA01035521;ABBA01035522;ABBA01035523;AF016005;AF041104;AF118275;AK074834;AK096094;AL050176;AL096855;AL356072;AL357552;AL357713;AMYH01000226;AMYH01000227;AMYH01000228;AMYH01000229;AMYH01000230;BC009619;BC062342;CD674939;CD679363;CH471130;DA868444;NM_001042681;NM_001042682;NM_012102 AAC28264;AAC31120;AAD27584;AAI67857;BAA32303;BAA95898;EAW71598;EAW71599;EAW71600;EAW71601;NP_001036146;NP_001036147;NP_036234;Q9P2R6 Hs.463041 1336828;1644410;1661268;1669285;1669771;1692242;1692434;1699472;1720773;1720839;1728387;1732812;1733064;1748927;1748945;1754483;1757451;1760201;1766545;1770512;1770605;1774447;1778969;1851452;1855786;2121766;2124963;2125547;2152437;2171858;2184222 AL009675;AL009874;AL033782;AL033866;D1S1160;D1S1262;D1S1410;D1S1615;D1S1829E;D1S1833E;D1S3372;D1S3607;G59360;G59395;G63476;RH103328;RH46183;RH64522;RH68650;SHGC-110581;SHGC-110595;SHGC-132483;SHGC-132756;SHGC-144829;SHGC-149864;SHGC-32940;SHGC-34994;SHGC-74174;SHGC-74177;SHGC-74179;SHGC-74183 ARG;ARP;ATN1L;DNB1;FLJ38775;KIAA0458 OTTHUMP00000001701;OTTHUMP00000001702;OTTHUMP00000221011;OTTHUMP00000221012;OTTHUMP00000221015;arginine-glutamic acid dipeptide repeats protein;atrophin 2;atrophin-1 like protein;atrophin-1 related protein;atrophin-1-like protein;atrophin-1-related protein APPROVED protein-coding ENSG00000142599 9965 05566 605226 REVIEWED 1316069 REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 6 6 q21 111726927 111911107 - 111620234 111804414 - 1580863;6480464 11115544;9618506;19237606;19074885;18779149;18622427;17081983;16094384;15189446;14574404;12717825;12459444;11485998;10856253;10660610;10575223;10102035;9925914;9635887;18247557;17148452;19289490;19564618;19661089;20028736;20054135;20164194;20453000;20953190;20466635;15964851;22859296;20811636;22303021;22547703;21890473;21926160;22028621;21886157;22286219;21455670;23303771;23128233;22869133;22349819 5980 F2Z3A1;H0Y5T4;O60673 AB209256;ABBA01026089;ABBA01026090;ABBA01026091;AF004713;AF035537;AF058701;AF071798;AF078695;AF157476;AF179428;AF179429;AF303220;AK310949;AL080317;AL096744;AL136310;AL512325;AMYH01016592;BC035823;BE645210;CH471051;NM_002912 AAB88486;AAC24009;AAC24357;AAC28460;AAD40184;AAF21598;AAG09402;AAG09403;AAH35823;AAI72423;BAD92493;CAB62529;EAW48292;EAW48293;EAW48294;NP_002903;O60673 Hs.232021 1686298;1698706;1700148;1700164;1714091;1785940;1789202;1790025;1790027;1790029;1790031;1790033;1790035;1790037;1790039;1790041;1790043;1790045;1790047;1790049;1790051;1790053;1790055;1790057;1790059;1790061;1790063;1790065;1790067;1790069;1790071;1794726;2110705;2119666;2158910;2184455;5017669 D6S1499;G65600;PMC35453P2;REV3L;REV3L__6883;RH102913;RH103687;RH103695;RH119655;RH36524;RH78825;SHGC-144121;STS-N32120;csnprev3l-pcr10-1;csnprev3l-pcr11-1;csnprev3l-pcr13-1;csnprev3l-pcr14-1;csnprev3l-pcr14-2;csnprev3l-pcr14-3;csnprev3l-pcr14-4;csnprev3l-pcr14-5;csnprev3l-pcr14-6;csnprev3l-pcr14-7;csnprev3l-pcr15-1;csnprev3l-pcr17-1;csnprev3l-pcr19-1;csnprev3l-pcr21-1;csnprev3l-pcr22-1;csnprev3l-pcr27-1;csnprev3l-pcr28-1;csnprev3l-pcr29-1;csnprev3l-pcr3-1;csnprev3l-pcr31-1;csnprev3l-pcr32-1;csnprev3l-pcr5-1;csnprev3l-pcr6-1;csnprev3l-pcr7-1 POLZ;REV3 DNA polymerase zeta catalytic subunit;OTTHUMP00000017933;OTTHUMP00000017934;Polymerase, DNA, zeta (Rev-3, yeast, homolog of);Rev-3, yeast, homolog-like (polymerase, DNA, zeta);hREV3;protein reversionless 3-like APPROVED protein-coding ENSG00000009413 9968 04145 602776 VALIDATED 735296 RET ret proto-oncogene This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008] 10 10 q11.2 42892523 42945805 + 43572517 43625799 + 1580863;2324925;2324932;2324930;2324943;2324926;2324920;6218979;6480464;6218981;6218984;6218972;6907045;7240710 18652760;18501516;18317952;16738479;16269310;19719936;10407179;10407114;9582449;12210101 21111805;21283077;19444888;18402529;7824936;8114939;19487299;19487296;19411807;19401695;19399650;19366855;19351817;19343621;19336503;19320641;19306335;19306327;19284088;19282698;19258401;19226610;19223516;19215943;19196962;19186126;19183406;19177457;19147753;19147513;19145771;19107227;19057948;19053769;19029228;19010920;19005720;18976163;18936155;18845906;18845535;18820179;18805915;18794325;18772120;18765511;18756447;18676765;18676680;18661771;18631007;18612588;18551016;18519677;18515739;18502331;18483257;18438890;18436345;18414682;17388787;17384213;17316110;17274802;17270543;17270245;17227125;17209045;17185892;17138574;17108762;17102080;17065770;17049487;17009072;16986122;16979782;16954442;16946010;16945332;16877807;16868135;16849523;16847065;16818057;16816022;16813162;16778204;16773224;16767674;16732321;16646689;16628270;16596053;16569669;16556802;16555159;16551639;16534860;16525712;16525057;16484222;16483615;16469774;16452504;9294615;9259198;9223675;9192898;9150387;9111993;9111992;9097963;9094028;9090527;9067749;9047384;9043870;8889548;8807338;8806699;8757765;8674117;8631863;8628282;8626834;8625130;8621380;8595427;8557249;8401580;8183561;8114938;8103403;8099202;8084609;7977365;7915165;7914213;7911697;7907913;7906866;7906417;7902707;7881414;9359036;18394855;18393128;18365214;18355321;18353552;18331611;18322301;18316596;18316595;18299477;18286198;18284634;18282654;18273880;18258924;18252215;18248681;18248648;18226854;18222320;18189271;18090939;18073307;18063059;18062802;18058472;18029348;17954268;17954023;17952863;17934909;17900235;17895320;17825269;17786355;17727338;17664273;17639058;17639057;17623957;17610518;17605401;17599050;17576593;17573899;17554617;17527003;17490619;17471236;17464312;17440194;17431108;17397038;16441254;16419493;16388093;16384843;16357163;16344560;16314641;16269442;16230779;16227613;16203990;16181547;16153436;16144862;16127999;16118333;16053382;16007166;15994200;15988377;15956201;15953945;15940252;15933516;15844786;15841388;15834508;15829955;15785245;15769183;15761501;15759212;15753666;15741265;15716612;15677445;15657578;15643606;15633231;15632018;15592804;15588985;15583857;15548547;15523405;15502856;15491993;15485908;15469971;15355438;15351743;15350625;15331579;15320968;15316058;15297606;15292360;15286081;15277225;15273715;15271413;15240857;15240649;15231654;15225646;15142370;15138456;15129804;15044950;14981541;14766744;14761598;14739491;14711813;14602786;14600022;14586073;14566559;14557473;14555929;14508694;12959980;12939698;12884527;12881714;12872262;12841548;12788868;12787916;12767512;12727845;12720532;12720173;12670889;12640453;12637586;12632375;12608895;12519890;12490841;12477932;12474140;12466368;12439935;12355085;7874109;7860065;7849720;7849700;7845675;7784092;7731689;7704557;7678053;7675449;7665556;7633441;7595169;7581377;7478523;6745938;3697657;3078962;3037315;2734021;2687772;2660074;2406025;2310396;2181380;1678508;1611909;1569189;1350670;9047383;11390647;16448984;12242309;12214285;12193298;12187076;12182058;12182057;12176011;12161537;12114746;12087092;12086152;12085189;12057919;12056817;12000816;11979448;11973622;11955539;11953748;11953745;11950855;11949835;11935126;11932334;11932300;11927965;11900218;11886862;11883863;11839664;11803116;11788682;11746981;11692159;11589684;11581189;11536047;11470823;11360177;11238493;11121408;11116144;11061555;10982477;10980597;10922382;10850414;10829012;10826520;10777380;10774729;10652352;10618407;10612852;10522989;10521317;10484767;10445857;10439047;10323403;10233362;10208419;10090908;10070972;10024437;9915833;9880212;9840920;9802801;9760196;9740802;9727738;9700200;9677065;9621513;9620546;9506724;9502784;9497256;9426223;9398735;9393871;9384613;9360560;22068382;22189301;17047028;20930041;20012784;20531297;20627492;19767128;21422799;21678021;21349203;20554711;20565774;20634891;20801952;21422198;21479187;20347960;19841562;20598273;20840674;20373984;20463576;20532249;20098747;20700745;20944145;20210798;20395301;16385451;18505566;19138318;19170196;19472011;19475497;19495791;19543246;19551609;19556619;19561646;19625176;19650860;19666486;19678735;19692168;19765726;19825962;19834765;19853744;19897677;19900702;19903778;19906784;19958926;19959718;20063095;20080836;20089534;20101222;20103606;20119574;20123584;20142552;20152359;20182906;20205103;20208144;20237269;20361209;20375987;20379614;20453000;20454948;20473317;20489179;20495744;20521125;20526288;20083156;20442138;20538960;20819778;20860430;20979234;21054478;16186106;19826964;20013610;20201982;21677782;21741956;21112821;8918855;20960036;21173509;20497437;22974609;22274720;22865907;22584707;21357690;21542403;20956458;17910947;21454698;11295841;21543427;21530422;21490379;21551259;21750045;23617071;22395866;21309721;21311890;21655256;21737465;21834681;21995290;10921886;21810974;21857107;19823924;21690267;23401445;21858136;22199277;22961909;21947652;22377709;21711375;21867742;22031517;22131258;22150560;22169991;22174939;20301434;20301600;21521337;21986619;22325379;22327622;22327623;22327624;22345297;22524746;11445581;18753381;22111543;22270996;22404432;22803838;20301612;22524660;22318606;22326552;22429913;20301715;23011823;23150706;21396847;22729463;22837065;23436219;23264394;23059849;23416954;23084198;22648184;22939624;23067224;23180660;22573489;22648435;23400839;22875993;22971345 5979 C9JYL6;P07949;Q9BTX6 ABBA01049994;ABBA01049995;AC010864;AF032124;AF520975;AF520979;AF520983;AI472270;AJ243297;AJ844649;AK291807;AK294827;AMYH01002283;AMYH01002284;AW297789;BC003072;BC004257;BE261914;BM661773;BM703293;BQ070075;BX332519;BX376396;CH471160;CS542500;D00617;DA100452;DA911581;H24956;NG_007489;NM_020630;NM_020975;S80097;S80552;S83049;X15262;Y12528;Y15743 AAB47046;AAB47047;AAB50647;AAB97168;AAD14423;AAH03072;AAH04257;AAM77275;AAM77279;AAM77283;BAF84496;BAG57939;CAA33333;CAA73131;CAA75753;CAB46483;CAM91187;EAW86576;EAW86577;EAW86578;EAW86579;EAW86580;EAW86581;EAW86582;EAW86583;EAW86584;NP_065681;NP_066124;P07949 Hs.350321 1722065;1742211;1743177;1743515;1743517;1744881;1744917;1745009;1751649;1778256;1793586;1853652;2114912;5117516 D10S1566;G59921;GDB:193843;GDB:281473;GDB:342173;GDB:342177;GDB:574049;GDB:579598;GDB:580702;GDB:592843;PMC23476P2;RH66458;SHGC-105605;STS-T15350 CDHF12;CDHR16;HSCR1;MEN2A;MEN2B;MTC1;PTC;RET-ELE1;RET51 OTTHUMP00000019479;OTTHUMP00000216967;RET transforming sequence;cadherin family member 12;cadherin-related family member 16;hydroxyaryl-protein kinase;proto-oncogene c-Ret;proto-oncogene tyrosine-protein kinase receptor Ret;receptor tyrosine kinase;ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) APPROVED protein-coding ENSG00000165731 9967 01266 142623;155240;162300;164761;171300;171400;191830;209880 REVIEWED 1347756 REST RE1-silencing transcription factor This gene encodes a transcriptional repressor that represses neuronal genes in non-neuronal tissues. It is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regular of neurogenesis. Alternatively spliced transcript variants have been described [provided by RefSeq, Jul 2010] 4 4 q12 57468799 57493097 + 57774042 57802010 + 1580863;6480464;6907045 12192000;7871435;7697725;18029348;19439607;19246391;19061646;18990442;18959489;18922795;18771760;18691653;18570921;18518926;18385973;18354483;18354482;18234667;17823282;17709376;17555596;17540862;17468742;17023429;16478988;16442230;16417580;16330548;16288918;16253247;16247481;15767543;15681389;15528196;15489334;15322094;15302935;15240883;15068239;15009665;14633990;14565956;12881722;12829700;12628452;12492469;12477932;12399542;11406295;10766169;10734093;10570134;10521596;10449787;9756936;8568247;15035981;15200951;19913121;20628086;19846118;17011572;20170730;19134002;20392875;18284609;19913583;20564196;20926649;18806873;19149626;19173732;19401398;19426709;19539370;19631241;20011975;20080105;20548947;20624818;21106707;20697351;17130167;17984088;19342457;21252229;10491605;15197246;15897453;21258371;23084401;23250796;22958208;23086924;21536750;20652837;21221247;22684772;23651552;20942606;21832040;21921234;21948504;21396985;22228704;21139048;22665064;23168245;22496669;21909106;22419809;18818083;21693630;22396653;22530801;22532168;22569092;22792276;23000965;23216891;23284171;23069678;22701651;22017875;22668508;22821339 5978 Q13127 AB024498;AB209750;ABBA01003443;ABBA01003444;ABBA01003445;AC069307;AF228045;AMYH01014198;BC017822;BC038985;BC132859;BC136491;CH471057;NG_029447;NM_001193508;NM_005612;U13877;U13879;U22314 AAB17211;AAC50114;AAC50115;AAF61710;AAH17822;AAH38985;AAI32860;AAI36492;BAD92987;EAX05516;EAX05517;NP_001180437;NP_005603;Q13127 Hs.307836 1643860;1649091;1649248;1680725;1750745;2219624 REST__5483;RH65065;SHGC-35370;SHGC-59569;STS-U22314;UniSTS:168889 NRSF;XBR OTTHUMP00000158972;RE1-silencing transcription factor;X2 box repressor;neural-restrictive silencer factor;neuron restrictive silencer factor;repressor binding to the X2 box APPROVED protein-coding ENSG00000084093 9966 08990 600571 REVIEWED 6904336 REXO1L10P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 10, pseudogene 8 q21.2 86758551 86758745 - 100288500 F5GW92 AC232323;NG_028288 pseudo 44433 INFERRED 6904335 REXO1L11P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 11, pseudogene 8 q21.2 86747543 86747737 + 100288470 F5GW92 AC232323;AMYH01018855;NG_028287 pseudo 44434 INFERRED 6904266 REXO1L12P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 12, pseudogene 8 q21.2 86726552 86728213 + 100289448 AC232323;NG_022425 pseudo 44435 INFERRED 1349693 RETN resistin This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 19 19 p13.2 7639972 7641340 + 7733972 7735340 + 1624968;1580863;2313494;2313497;2313498;2313495;2307186;2313499;6480464;7207073;7207071;7240710;7207155;7207161;7207148;7207151;7207163;7207222;7207075;7207150;7207154;7207156;7207157;7207158;7207159;7207160;7207162;7207230;7207072;7207249;7207251;7207074;7207152 12629116;19738363;19269054;19177195;19381781;19408175;18789551;22468100;23058473;17598818;17919381;21885493;19545363;15523596;22630819;22240747;20203628;18373357;17175295;15670203;11201732;21425555;20178460;17303077;21994008;22816026;20560816;20171599;22421264;18997620 20810407;21173741;22261091;19544118;19491387;19454585;19420105;19372460;19351602;19273568;19247279;19243851;19223612;19178525;19126543;19125180;19074981;19065463;19058789;19056482;18996102;18979105;18975914;18957529;18828733;18815063;18800626;18798067;18787374;18768828;18710472;18709689;18660489;18654008;18577878;18565254;18501464;18498634;18465683;18446452;18446183;18440081;18410529;18381806;18283268;18280066;18257120;18239575;18234104;18221467;18180399;18167137;18059079;18023360;19408174;15064728;15055467;14967374;14740159;14733921;14715842;14697240;14688155;14687894;14671216;14602788;14557464;14521959;14514348;12975309;12965109;12874180;12829623;12730330;12700889;12679465;12660880;12647275;12504108;12502516;12477932;12213908;12213907;12050208;11994397;11978666;11901161;11872693;11872692;11809189;11558907;11358969;11209052;11090083;10921885;8211113;17924842;17785630;17727677;17705672;17698599;17635339;17565416;17526982;17525801;17445546;17441314;17392006;17384443;17384338;17383891;17374708;17365928;17327348;17299113;17287419;17223990;17208941;17207388;17184143;17178123;17177135;17148667;17067553;16934751;16921786;16822679;16756630;16721825;16685503;16675483;16670163;16608899;16586545;16532325;16525810;16496121;16478779;16418168;16395259;16394091;16313475;16159596;16137686;17967974;16143861;16087164;16061827;16039994;15983036;15956078;15944845;15928242;15886251;15864531;15862282;15843582;15842513;15798953;15757855;15754730;15741250;15705777;15598689;15545519;15533384;15526156;15517149;15489334;15338456;15326567;15248836;15221446;15130511;15111497;15070954;21140266;22146093;22554600;22547903;22577247;22843503;22848926;21184654;21167737;19249901;20150891;21277149;21293001;19913121;20538124;20591185;20602615;20628086;20802460;21441316;21520070;20215915;20637370;20670155;21345288;17183659;19225215;19262583;19440859;19445973;19560452;19578796;19717514;19719988;19727657;19770005;19811274;19848317;19882136;19888587;19920090;19922611;19948975;20034466;20061546;20093199;20300528;20306680;20346233;20464037;20951381;20628259;20091460;20435848;20106477;19955766;20082598;17207965;20648005;20734064;20842437;20855565;19754671;20836881;16115391;20177966;20360975;20979734;20422438;19821101;22884361;22898217;22934726;19162347;21254741;18422175;19188682;21050256;21323646;21325757;20889251;21212400;21251282;21187261;21497511;21778676;21154263;22866969;22935190;22971561;23137677;21264799;19840440;21546486;21712777;21796841;21535169;22491740;22869540;20671416;21029428;22425808;21681565;21050358;21382364;21671974;21633913;22296675;21714696;21750415;21915052;22296202;21813294;21742599;22479352;22575502;21557697;21803600;21874355;22167129;22167130;22554824;22886618;22683371;21163940;22038316;23086480;22809551;23193185;22434063;22744380;23197433;23020084;23518675;23178185;22595228;22701635;22944288;23160233 56729 Q76B53;Q9HD89 AB111910;ABBA01010893;AC008763;AF205952;AF290874;AF323081;AF352730;AMYH01009411;AMYH01009412;AY207314;AY359066;BC069302;BC101554;BC101560;CH471139;DQ301958;NG_023447;NM_001193374;NM_020415 AAG02144;AAG59824;AAH69302;AAI01555;AAI01561;AAK18621;AAK83106;AAO38860;AAQ89425;ABB96251;ADQ32888;BAD04068;EAW69015;EAW69016;NP_001180303;NP_065148;Q9HD89 Hs.283091 5492949;5494019 UniSTS:480729;UniSTS:483335 ADSF;FIZZ3;MGC126603;MGC126609;RETN1;RSTN;XCP1 C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 1;adipose tissue-specific secretory factor;c/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein;cysteine-rich secreted protein A12-alpha-like 2;cysteine-rich secreted protein FIZZ3;found in inflammatory zone 3;resistin;resistin delta2 APPROVED protein-coding ENSG00000104918 20389 05714 125853;605565 REVIEWED 1602387 REXO1L3P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3, pseudogene 8 8 8 q21.2 82559345 82561179 - 86754080 86756141 - 86556617 86568889 - 441359 AC093331;NG_009316 APPROVED pseudo 32240 INFERRED 2298830 REXO1L4P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 4, pseudogene 8 8 q21.2 86859903 86861964 - 86814747 86816774 - 653042 AC232323;AF279874;AMYH01018855;NG_007182 APPROVED pseudo 32241 INFERRED 1602386 REXO1L5P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5, pseudogene 8 8 q21.2 86872094 86874155 - 86816580 86828707 - 441361 AC232323;AF279874;NG_009317 APPROVED pseudo 32242 INFERRED 1345045 RETNLB resistin like beta 3 3 q13.1 109957176 109958820 - 108474486 108476130 - 1580863;6480464;6484113 11209052;18594973;16427636;15489334;15064728;14598255;12975309;12574343;12477932;12224133;11090083;10921885;19251945;19967544;22758223;21602491;22726462;21094111;22371635;21828035;22318606 84666 Q2UXL7;Q9BQ08 ABBA01061700;AC092185;AF290873;AF323084;AF352731;AM050721;AMYH01013382;AY358655;BC069318;BC113502;BC113528;CH471052;NM_032579 AAG59827;AAH69318;AAI13503;AAI13529;AAK18622;AAK83105;AAQ89018;ADR82797;CAJ19371;EAW79719;NP_115968;Q9BQ08 Hs.307047 5493365;5494005 UniSTS:480717;UniSTS:485842 FIZZ1;FIZZ2;HXCP2;RELM-beta;RELMb;RELMbeta;XCP2 C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 2;OTTHUMP00000215152;colon and small intestine-specific cysteine-rich protein;colon carcinoma-related gene protein;cysteine-rich secreted A12-alpha-like protein 1;cysteine-rich secreted protein A12-alpha-like 1;cysteine-rich secreted protein FIZZ2;found in inflammatory zone 1;resistin-like beta protein-coding ENSG00000163515 20388 05734 605645 VALIDATED 1602384 REXO1L7P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 7, pseudogene 8 q21.2 86908388 86911709 - 441363 AF279874;NG_009610 APPROVED pseudo 32244 INFERRED 2303459 REXO1L8P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 8, pseudogene 8 8 8 q21.2 82559379 82561176 - 86742172 86746963 - 86554954 86556751 - 392242 ABBA01004005;AC093331;AMYH01018836;NG_009604 REXO1L8 APPROVED pseudo 35429 INFERRED 6904332 REXO1L9P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 9, pseudogene 8 86775084 86777113 - 100506246 AC232323;NG_009315 pseudo 44432 INFERRED 1320447 REXO1 REX1, RNA exonuclease 1 homolog (S. cerevisiae) 19 19 19 p13.3 1749329 1782534 - 1766245 1799452 - 1815245 1848452 - 737633;6480464;6907045 12477932 15489334;15302935;12943681;10574461;16169070;22596162;20463961;23437358;18029348;19322201 57455 K7ESH4;Q8N1G1 AB032964;ABBA01002687;ABBA01002688;ABBA01002689;AC012615;AK301030;AK301729;AK302362;AK308256;AK311255;AMYH01009266;BC016923;BC032244;CH471139;NM_020695 AAH16923;AAH32244;BAA86452;BAG62645;BAG63195;BAG63687;EAW69450;EAW69451;NP_065746;Q8N1G1 Hs.192477 1688841 RH98588 ELOABP1;EloA-BP1;KIAA1138;REX1;TCEB3BP1 RNA exonuclease 1 homolog;elongin A binding protein 1;elongin A-binding protein 1;elongin-A-binding protein 1;transcription elongation factor B polypeptide 3 binding protein 1;transcription elongation factor B polypeptide 3-binding protein 1 protein-coding ENSG00000079313 24616 15478 609614 VALIDATED 1602385 REXO1L2P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2 (pseudogene) 8 8 8 q21.2 82559345 82560422 - 86884284 86886069 - 86787245 86788322 - 12477932;16421571 100288527 A0PJM3 AC232323;BC112074;BC113453;NR_003594 A0PJM3 Hs.535056 GOR pseudo 32239 VALIDATED 1315491 REV1 REV1, polymerase (DNA directed) This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found. [provided by RefSeq, Jul 2008] 2 2 q11.1-q11.2 99383370 99472912 - 100016938 100106480 - 1580863;6480464 19390575;19157994;19074885;18975621;18591245;18498753;18470628;18270339;16824193;16803901;16495473;15815621;15609317;15380106;15189446;14702039;14657033;12930947;12529368;12477932;11278384;10906324;10760286;10094488;8889548;10536157;11485998;22691049;20888339;20691646;19170759;19464298;19628463;19661089;19789190;20028736;20059978;20164194;20453000;20554254;23287467;22859296;21690293;22303021;21926160;22266823;21926972;22623531;22761336;22828282;22869133 51455 C9JPS2;F8WCR0;H7C263;Q9UBZ9 AB047646;ABBA01073944;ABBA01073945;ABBA01073946;AC018690;AF151538;AF206019;AF357886;AJ131720;AK002087;AK025176;AK307719;AMYH01010805;AMYH01010806;AMYH01010807;BC037734;BC130411;BM683065;CH471127;NM_001037872;NM_016316 AAF06731;AAF18986;AAH37734;AAI30412;AAK43708;AAY24314;BAA92079;BAB21441;CAB38231;EAX01860;EAX01861;EAX01862;EAX01863;NP_001032961;NP_057400;Q9UBZ9 Hs.443077 1653808;1662660;1666151;1682806;1684307;1698480;1789999;1790001;1790003;1790005;1790007;1790009;1790011;1790013;1790015;1790017;1790019;1790021;1790023;2109751;2126311;5111463 REV1L_9719;RH102789;RH36074;RH36408;RH65793;RH92204;RH98876;SHGC-56859;STS-W87784;csnprev1l-pcr11-1;csnprev1l-pcr13-1;csnprev1l-pcr14-1;csnprev1l-pcr16-1;csnprev1l-pcr17-1;csnprev1l-pcr18-1;csnprev1l-pcr19-1;csnprev1l-pcr20-1;csnprev1l-pcr23-1;csnprev1l-pcr3-1;csnprev1l-pcr5-1;csnprev1l-pcr6-1;csnprev1l-pcr7-1 FLJ21523;MGC163283;MGC26225;REV1L AIBP80;DNA repair protein REV1;OTTHUMP00000161215;OTTHUMP00000161216;REV1 homolog;REV1- like;alpha integrin-binding protein 80;rev1-like (yeast);rev1-like terminal deoxycytidyl transferase APPROVED protein-coding ENSG00000135945 14060 16202 606134 REVIEWED 1606670 REXO1L1 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 8 8 q21.2 86755947 86762978 - 86568695 86575726 - 6907045;6480464 17699833;12477932;11472404;1701012;9846365 254958 Q8IX06 ABBA01150618;AC093331;AF023669;AF495523;AMYH01018839;AMYH01018840;AMYH01018841;AMYH01018842;AMYH01018843;AMYH01018844;AMYH01018845;AMYH01018846;AMYH01018847;AMYH01018848;AMYH01018849;AMYH01018850;AMYH01018851;AMYH01018852;AMYH01018853;AMYH01018854;AMYH01018855;NM_172239 AAC98149;AAI67782;AAN77012;NP_758439;Q8IX06 Hs.373854 5016470;5092130;5112704;5114839;5122671 D6S1069;D8S1502;GDB:386789;SHGC-83658;SHGC-84602 GOR GOR antigen;OTTHUMP00000227996;RNA exonuclease 1 homolog-like 1;antigen GOR homolog;exonuclease GOR protein-coding ENSG00000205176 24660 17049 VALIDATED 731874 RETSAT retinol saturase (all-trans-retinol 13,14-reductase) 2 2 2 p11.2 85397081 85409824 - 85422733 85435166 - 85569078 85581821 - 6480464;6907045 15358783;19139408;16344560;16303743;15815621;15489334;14702039;12975309;12477932;8125298;21832049;21139048;21890473;21906983 54884 G5E9N3;H0YGU3;H7BZ16;H7BZ81;H7C3J0;Q6NUM9 ABBA01075746;ABBA01075747;AC062037;AC093162;AK000303;AK075261;AK225305;AK296522;AL833237;AMYH01010494;AY358568;BC011418;BC068517;BQ448420;CH471053;CQ783381;DA418052;DB001412;NM_017750 AAH11418;AAH68517;AAQ88931;AAY24096;AAY24126;ACE86502;ACE87183;BAA91069;BAC11505;BAG59153;CAF86585;EAW99530;EAW99531;EAW99532;EAW99533;NP_060220;Q6NUM9 Hs.440401 1769813;2116345 NIB1368;STS-AA004881 FLJ20296 OTTHUMP00000160675;OTTHUMP00000202928;OTTHUMP00000202929;PPAR-alpha-regulated and starvation-induced gene protein;all-trans-13,14-dihydroretinol saturase;all-trans-retinol 13,14-reductase protein-coding ENSG00000042445 25991 07893 VALIDATED 7174890 RFC3P1 replication factor C (activator 1) 3, 38kDa pseudogene 1 3 p22.3 36211253 36211940 - 100131711 ABBA01024874;AC105901;AMYH01013082;NG_022200 pseudo 44531 INFERRED 3497906 REXO1L6P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6 (pseudogene) 8 8 8 q21.2 82559345 82560422 - 86884284 86885361 - 86839094 86840171 - 12477932 441362 AC232323;AMYH01018851;NG_016769 pseudo 32243 INFERRED 1314713 REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) 9 9 9 q34.2 106821755 106833737 - 135261007 135272985 - 136271186 136283164 - 1580863;6480464 9325058;10908561;16381901;15489336;15489334;15164053;14702039;12477932;12429849;11256614;11230166;11076863;20098615;16196087;21602889;21139048;22586326;8889548 57109 Q9GZR2 ABBA01032458;AF273304;AF295774;AK000247;AK025493;AK295982;AK304547;AK310164;AK314333;AK315904;AL136894;AL158826;AL593848;AMYH01021802;BC009274;BC071691;BM984937;BX333016;CH471090;DC387839;NM_001279349;NM_001279350;NM_001279351;NM_020385;NR_103995;NR_103996 AAF98162;AAG02123;AAH09274;ABM82837;ABM86022;BAB15152;BAG36979;BAG58757;BAG65343;BAH14275;CAB66828;CAI12845;CAI12847;CAI12848;CAI12849;CAL37495;EAW88082;NP_001266278;NP_001266279;NP_001266280;NP_065118;Q9GZR2 Hs.438409 1689951 RH75089 REX4;XPMC2;XPMC2H OTTHUMP00000022484;OTTHUMP00000022485;OTTHUMP00000022486;RNA exonuclease 4;XPMC2 prevents mitotic catastrophe 2 homolog;Xenopus prevents mitotic catastrophe 2 homolog;Xenopus prevents mitotic catatrophe 2 homolog;exonuclease XPMC2;hPMC2;prevents mitotic catastrophe 2 protein homolog protein-coding ENSG00000148300 12820 04239 602930 VALIDATED 1603665 REXO2 RNA exonuclease 2 This gene encodes a 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011] 11 11 11 q23.2 111463042 111473937 + 113815387 113826211 + 114310108 114321001 + 6480464;6907045 8125298;10851236;18023590;16381901;15592455;15489336;15489334;15362935;14702039;12477932;11256614;11230166;11076863;10810093;20877624;18029348;21139048;21890473;21906983;21963094;23000965;23741365 25996 B2R532;F5GX07;F5GYG5;F5H6P8;F5H784;F5H7P1;H0YF66;H0YG37;H0YG54;H0YG83;H0YGR4;H0YH58;Q9BTR4;Q9Y3B8 ABBA01039770;AF151872;AI249345;AK023498;AK223200;AK312042;AL110239;AMYH01004043;AP002373;BC003502;BC066947;BC105024;BC105026;BC107887;BC143701;CH471065;CR533500;DB471224;NM_015523 AAD34109;AAH03502;AAI05025;AAI05027;AAI07888;AAI43702;BAD96920;BAG34979;CAB53690;CAG38531;CAL37530;EAW67249;EAW67250;NP_056338;Q9Y3B8 Hs.677190;Hs.714231 1654742;1676594;1699336;1858191;2137354;2174059 C95618;RH103255;RH91947;STS-AA027991;STS-H98169;WI-18173 CGI-114;DKFZp566E144;MGC111570;REX2;RFN;SFN OTTHUMP00000238466;OTTHUMP00000238468;OTTHUMP00000238473;OTTHUMP00000238474;REX2, RNA exonuclease 2 homolog;RNA exonuclease 2 homolog;oligoribonuclease, mitochondrial;small fragment nuclease APPROVED protein-coding ENSG00000076043 17851 06192 607149 REVIEWED 5130649 RFESDP1 Rieske (Fe-S) domain containing pseudogene 1 13 13 13 q12.12 4486492 4487019 + 22322179 22322730 + 23422889 23425579 + 100129167 ABBA01068626;AL162853;AMYH01004965;NG_028978 2156086 RH47946 KIAA0263 pseudo 39420 INFERRED 1348076 RFC2 replication factor C (activator 1) 2, 40kDa This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013] 7 7 q11.23 73283768 73306674 - 73645832 73668738 - 1580863;2306716;6480464;6907045;7246932 18157157;23545418 1313560;15655353;12791985;9111189;9488738;9822671;19237606;18245774;16413017;15635413;15489334;15096576;14605214;12930902;12853948;12766176;12477932;12192049;12171929;12036885;11907025;11003705;18247557;21145461;10783165;10051561;9228079;9121429;8812460;8692848;8651315;8093561;7774928;9751713;20574454;17148452;17643375;19615732;20226869;20522537;19661379;18499658;19454010;22863883;22990118;9092549;22939629;16196087;17314511;21139048;21549307;21890473;21906983;16582606;21963094;21853274;22505724 5982 F8WC37;F8WDC9;H0YEY3;H7C596;H7C5A0;H7C5G4;H7C5P1;H7C5P4;H7C5Q7;H7C5S7;P35250;Q75MT5 AB451243;AB451368;ABBA01063902;ABBA01063903;AC005081;AF045555;AF483622;AL560344;AMYH01017546;AW450467;BC002813;BM563468;BM810551;BQ070526;BQ674131;BT007058;CH471200;HY046046;HY056452;M87338;NG_008102;NM_001278791;NM_001278792;NM_001278793;NM_002914;NM_181471 AAB09786;AAC04860;AAH02813;AAL82503;AAP22334;AAP22335;AAP35707;BAG70057;BAG70182;EAW69605;EAW69606;EAW69607;EAW69608;NP_001265720;NP_001265721;NP_001265722;NP_002905;NP_852136;P35250 Hs.647062 1696702;1771096;1788146;1788148;1788150;1788152;1788154;1788156;1857328;2123106;2150993;5022588 D5S1597E;G67235;G67236;G67237;G67238;G67239;G67240;GDB:1317582;RFC2;SHGC-32392;SHGC-83052;WI-22097 A1;MGC3665;RFC40 A1 40 kDa subunit;OTTHUMP00000160645;OTTHUMP00000160646;RF-C 40 kDa subunit;activator 1 40 kDa subunit;activator 1 subunit 2;replication factor C 2;replication factor C subunit 2 APPROVED protein-coding ENSG00000049541 9970 02675 600404 REVIEWED 1353491 RFC1 replication factor C (activator 1) 1, 145kDa This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] 4 4 p14-p13 38965471 39044390 - 39289069 39368001 - 1580863;2306716;6480464;6484113;6907045;7246932 18157157;23545418 8248204;8954124;16438930;9111189;9488738;9822671;19427504;19307503;19274320;19237606;19223468;19172696;19159907;19105199;19093297;19020309;19019492;18842806;18823966;18799873;18629538;18607581;18528741;18458567;18447718;18406541;18273817;18258338;18204969;18060320;18023275;18022874;17702010;15655353;15635413;15489334;15457444;15302935;15231126;15198953;15060097;15059614;15044114;14632302;14561664;12947101;12855225;12766176;12753319;12707400;12673279;12509469;12477932;12411325;12220650;12192049;12171929;12045192;11877377;11857541;10783165;10353443;9705493;9563011;9351817;9235961;9121429;8999859;8861969;8692848;8512577;8114700;7914507;9443979;12393188;17545166;17449906;17439323;17410198;17325736;17208363;17181924;17180579;17081983;16964243;16845273;16712703;16596679;16565220;16522921;16471213;16343969;16289162;16284371;16141796;16115349;16086047;16019224;15952116;15799025;15772763;15769366;15677700;22729036;20713449;19714462;19913121;20574454;20628086;20634891;20661649;17148452;18245774;19208620;19461557;19493349;19533788;19548564;19706844;19729796;19774638;19776634;19827168;19858780;19956635;20081198;20141435;20226869;20237949;20310006;20335220;20466634;20468076;20472929;20511665;20522537;20544798;20211142;20948192;21045269;16344560;16449650;19454010;21113649;23022380;9092549;9649448;21881118;22586326;12400013;15161933;21139048;21890473;21900206;21906983;21878957;21681722;19471022;21907836;22168243;21252943;22939629;22952233;22914600;15225546;21963094;23336575;22868813 5981 D6RAD2;E0CX09;H0Y8U4;H0Y9P8;P35251 ABBA01004121;AC023135;AC093855;AF040250;AJ564999;AK291612;AMYH01014117;AY600371;BC010387;BC035297;BC051751;BC051786;CH471069;DA336360;L23320;L24783;NM_001204747;NM_002913;X69821 AAA16121;AAB99788;AAH35297;AAH51751;AAH51786;AAS94325;ABZ92532;BAF84301;CAA49475;CAD92367;EAW92922;EAW92923;EAW92924;NP_001191676;NP_002904;P35251 Hs.507475 1669905;1725791;1735406;1770336;1788562;1788564;1788566;1788568;1788570;1788572;1788574;1788576;1847524;1851387;2121367;2125526;2158610;2158920;2184232 D4S2578E;D4S2821;D4S335;G34472;G62134;G67564;G67565;G67566;G67567;G67568;G67569;G67570;G67571;SHGC-30256;SHGC-51647;SHGC-67924;SHGC-67941;STS-L23320;STS-Z22642 A1;MGC51786;MHCBFB;PO-GA;RECC1;RFC;RFC140 A1 140 kDa subunit;DNA-binding protein PO-GA;MHC binding factor, beta;OTTHUMP00000125201;OTTHUMP00000218411;RF-C 140 kDa subunit;activator 1 140 kDa subunit;activator 1 large subunit;activator 1 subunit 1;replication factor C 140 kDa subunit;replication factor C large subunit;replication factor C subunit 1;replication factor C1 APPROVED protein-coding ENSG00000035928 9969 00024 102579 REVIEWED 4888992 RFKP1 riboflavin kinase pseudogene 1 1 1 q 214242288 214243716 - 240985542 240986970 - 100313962 ABBA01033239;AL365184;AMYH01001875;NG_016107 pseudo 39181 INFERRED 4889059 RFKP2 riboflavin kinase pseudogene 2 3 3 3 q13.2 110146826 110149599 - 113232468 113233234 - 111747750 111750523 - 100132753 ABBA01061669;AC024887;AMYH01013389;NG_016114 pseudo 39182 INFERRED 1320871 RFC4 replication factor C (activator 1) 4, 37kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008] 3 3 q27 187990375 188006984 - 186507681 186524484 - 1580863;2306716;6480464;6907045;7246932 18157157;23545418 20147293;9488738;15504738;12791985;7774928;9111189;9822671;18492021;16344560;16341674;15655353;15635413;15489334;12930902;12766176;12736711;12509469;12477932;12192049;12171929;12045192;11907025;11572977;11486023;11326315;10353443;10329413;10051561;9396813;9228079;9121429;8692848;1351677;16189514;9751713;14605214;20574454;17148452;17643375;18245774;19237606;19615732;20226869;20522537;18247557;22912744;18212063;20603015;22863883;22939629;22990118;23022380;9092549;21907836;21139048;21415862;21549307;21890473;21906983;22703881;21853274;22505724 5984 C9J8M3;C9JGY5;C9JTT7;C9JW34;C9JXZ7;C9JZI1;F8WE44;H7C1P0;P35249 AA521171;ABBA01058381;AC112907;AF538718;AK297282;AMYH01013736;BC017452;BC024022;BM837975;BT006987;CH471052;CR536561;CX788139;DA359927;NM_002916;NM_181573 AAH17452;AAH24022;AAM97933;AAP35633;ABM84404;ABM84469;ABM84732;ABM87354;BAG59753;CAG38798;EAW78169;EAW78170;EAW78171;NP_002907;NP_853551;P35249 Hs.732098 1677997;1739485;1788586;1788588;1788590;1788592;1788594;2139524 D3S3408;G67572;G67573;G67574;G67575;G67576;RH68259;SHGC-30529 A1;MGC27291;RFC37 A1 37 kDa subunit;OTTHUMP00000210038;OTTHUMP00000210039;RF-C 37 kDa subunit;RFC 37 kDa subunit;activator 1 37 kDa subunit;activator 1 subunit 4;replication factor C 37 kDa subunit;replication factor C subunit 4 APPROVED protein-coding ENSG00000163918 9972 00022 102577 REVIEWED 1343182 RFP2OS ret finger protein 2 opposite strand 448961 AF529010 18457 1605818 RFESD Rieske (Fe-S) domain containing 5 5 5 q15 90860909 90871275 + 95008340 95018600 + 94982481 94992849 + 6480464 16461635;12477932 317671 D6RBY0;D6RJG8;Q8TAC1 ABBA01069249;AC008547;AMYH01015490;BC024023;BC035110;BC048979;BI551847;BM263054;BX114571;CH471084;DN914641;NM_001131065;NM_001131066;NM_173362 AAH24023;AAH35110;AAH48979;EAW96042;EAW96043;EAW96044;EAW96045;NP_001124537;NP_001124538;NP_775498;Q8TAC1 Hs.399758 1673135;2156086 RH47946;WI-14814 OTTHUMP00000149980;OTTHUMP00000149981;OTTHUMP00000222475;Rieske domain-containing protein protein-coding ENSG00000175449 29587 14164 VALIDATED 1315670 RFC3 replication factor C (activator 1) 3, 38kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 13 13 q13.2 33290206 33438695 + 34392206 34540695 + 1580863;2306716;6480464;6907045;7246932 18157157;23545418 9488738;7774928;9111189;16079077;9822671;19237606;17456004;16344560;15635413;15489334;14702039;14605214;12930902;12766176;12477932;12192049;12171929;11907025;11572977;10884395;10051561;9228079;9121429;9092549;8692848;8441605;8125298;18245774;19913121;20574454;20628086;20573375;12791985;14657243;17643375;19615732;20226869;20379614;20603015;22863883;22939629;16196087;17314511;21907836;22145905;22242598;18457437;21139048;21549307;21890473;21900206;21906983;20061627;22328562;21963094;21988832;22949521;23383273;23251661;22505724 5983 P40938 AA447424;ABBA01010162;ABBA01010163;ABBA01010164;AF484446;AI221523;AK128459;AK222572;AK296527;AK312544;AL139081;AL160394;AL161891;AL596753;AMYH01005026;BC000149;BQ022288;BT019668;BU618419;CH471075;CX786577;DA943219;L07541;NM_002915;NM_181558 AAB07268;AAH00149;AAL82505;AAV38474;ABM81881;ABM85044;BAD96292;BAG59158;EAX08537;EAX08538;NP_002906;NP_853536;P40938 Hs.115474 1648240;1679794;1689286;1754119;1760789;1788158;1788160;1788162;5113439 D13S1680;G67285;G67286;G67287;RH91486;RH91962;RH93719;SHGC-132153;SHGC-144308 MGC5276;RFC38 A1 38 kDa subunit;OTTHUMP00000018237;RF-C 38 kDa subunit;RFC, 38 kD subunit;activator 1 38 kDa subunit;activator 1 subunit 3;replication factor C 38 kDa subunit;replication factor C subunit 3 APPROVED protein-coding ENSG00000133119 9971 02676 600405 REVIEWED 1319540 RFC5 replication factor C (activator 1) 5, 36.5kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 36 kD subunit. This subunit can interact with the C-terminal region of PCNA. It forms a core complex with the 38 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9. [provided by RefSeq, May 2011] 12 12 q24.23 116938893 116954422 + 118454506 118470044 + 1580863;2306716;6480464;6907045;7246932 18157157;23545418 8999859;12791985;9111189;9488738;9822671;16344560;16169070;15635413;15489334;14702039;12930902;12766176;12477932;12237462;12192049;12171929;11907025;11572977;10051561;9751713;9396813;9228079;9121429;8692848;8441605;7774928;16189514;14605214;17353931;18247557;21145461;20574454;17079134;20221901;20826785;20800603;17643375;18245774;19237606;20226869;20522537;17207965;22939629;16196087;17314511;21907836;21139048;21415862;21549307;21906983;22318606;22990118;9092549;22678362;23251661;23383273;22053931;22505724 5985 C9JH72;E9PEP3;F5H0U6;F5H304;F5H5S0;F8W9B4;P40937;Q59GW7 AB208992;ABBA01020044;ABBA01020045;ABBA01020046;AC131159;AI567945;AK094575;AK290685;AK291107;AMYH01004786;AU121576;AY254323;BC001866;BC013961;BC020440;BM153733;CR407651;DB270923;L07540;NM_001130112;NM_001206801;NM_007370;NM_181578 AAB09784;AAH01866;AAH13961;AAO63493;ADQ32284;BAD92229;BAF83374;BAF83796;BAG52890;CAG28579;NP_001123584;NP_001193730;NP_031396;NP_853556;P40937 Hs.731908 1667938;1685047;1746943;1854797;2122146;2128858;2180740 A007E48;D12S1213E;D12S1776;D12S1874;G64848;RH65239;WI-13177 MGC1155;RFC36 A1 36 kDa subunit;OTTHUMP00000209892;OTTHUMP00000209893;RF-C 36 kDa subunit;RFC, 36.5 kD subunit;activator 1 36 kDa subunit;activator 1 subunit 5;replication factor C 36 kDa subunit;replication factor C subunit 5;replication factor C, 36-kDa subunit APPROVED protein-coding ENSG00000111445 9973 02677 600407 REVIEWED 1313443 RFK riboflavin kinase Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009] 9 9 9 q21.13 49575160 49584171 - 78190253 78199264 - 79000433 79009444 - 737633;1580863;6480464;6907045 12477932 12623014;19010793;15489334;14702039;14580199;21308351;9110174;8619474;16169070;16344560;19641494;20877624;21139048;22158615 55312 B2RDZ2;H7C4G0;Q969G6 ABBA01033906;AF038172;AK002011;AK123933;AK307079;AK315734;AL391868;AMYH01021424;BC007069;BF979572;CH471089;DA154523;DB499473;DB531307;NM_018339 AAH07069;BAA92033;BAG38089;EAW62578;EAW62579;NP_060809;Q969G6 Hs.37558 1663885;1856591;1856593;5015879;5015961;5016478;5022450;5115081 A006D45;D10S275;D15S1477;EST209511;G20734;GDB:314949;GDB:434012;WI-16973 FLJ11149;RIFK;RP11-422N19.2 0610038L10Rik;ATP:riboflavin 5'-phosphotransferase;OTTHUMP00000021501;OTTHUMP00000216103;flavokinase;riboflavin kinase APPROVED protein-coding ENSG00000135002 30324 17969 613010 VALIDATED 1345692 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 17 17 17 q25 76599470 76614605 - 77599067 77602939 - 80005778 80009650 - 1302739;1580863;2302204;6480464;6907045 9187150;17761886 10341080;14702039;12477932;11165380;9110174;8619474 5986 F5H3H7;J3QLN0;Q8N9R1;Q9Y644 ABBA01019661;AC135056;AF038196;AF108139;AK094016;AK293568;AK302068;AMYH01008727;AMYH01008728;BC014495;BC035781;BC050399;BC069034;BC080181;BC146805;BF435018;CH471099;NM_002917;U94353 AAC51359;AAD34321;AAI46806;BAC04269;BAG57039;BAG63458;EAW89735;EAW89736;EAW89737;EAW89738;EAW89739;EAW89740;NP_002908;Q9Y644 Hs.569700 1675431;1680543;1772425;1791496 PMC111189P1;RH35971;RH79807;RH98836 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase;beta-1,3-N-acetylglucosaminyltransferase radical fringe;radical fringe homolog;radical fringe homolog (drosophila) protein-coding ENSG00000169733 9974 09093 602578 VALIDATED 1349182 RFPL4A ret finger protein-like 4A 19 19 19 q13.42 53315258 53319293 + 60962192 60966353 + 56270507 56274541 + 6480464 20379614;16364311;15057824;11850190;23000965;23377640 342931 A6NLU0 ABBA01020854;ABBA01020855;ABBA01020856;AC008749;AMYH01010008;NM_001145014 A6NLU0;NP_001138486 Hs.631553 2150316 D1S2440 RFPL4;RNF210 OTTHUMP00000229823;RING finger protein 210;ret finger protein-like 4;ret finger protein-like 4A protein-coding ENSG00000223638 16449 612601 VALIDATED 1348433 RFPL1 ret finger protein-like 1 22 22 22 q12.2 13634421 13638293 + 28164572 28168444 + 29834572 29838444 + 1580863;6480464 18656177;15461802;12477932;10508838;20009918;20725088 5988 O75677 ABBA01122870;AC000041;AJ010228;AJ010229;AMYH01012695;BC104768;CH471095;CR456562;NM_021026 ABZ92533;CAA09043;CAA09044;CAG30448;CAK54592;CAK54891;EAW59801;EAW59802;NP_066306;O75677 Hs.648249 1678603;1808096;1820044;1820394;1858423;2011972;2011974;2011982;2013290;2013292;2013314;2098424;2219626;5112886 ECD05026;ECD11094;ECD11272;REN76914;REN76915;REN76916;REN76920;REN77581;REN77582;REN77593;RFPL1__5486;RH46208;RH98366;stSG602599 MGC132428;RNF78 OTTHUMP00000197722;RING finger protein 78;ret finger protein-like 1 protein-coding ENSG00000128250 9977 16182 605968 VALIDATED 1605590 RFFL ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 17 17 17 q12 30246327 30326489 - 30360244 30440407 - 33336131 33416348 - 6480464;6484113 19305408;18450452;18382127;17121812;15576038;15489334;15302935;15229288;15069192;14702039;12477932;20677014;19690564;17207965;19773279;18029348;21308745;22626734 117584 C9JE27;J3KSI3;J3KSU7;J3QR17;Q8WZ73 ABBA01011223;ABBA01011224;ABBA01011225;AC004223;AF434816;AK093112;AK308689;AMYH01008353;AY098935;BC015681;BC028424;BG771625;CH471147;CK001659;CR933651;DB459719;NM_001017368;NR_037713 AAH15681;AAH28424;AAL30771;AAM29181;ADQ31694;BAC04059;CAI45952;EAW80172;EAW80173;EAW80176;EAW80177;EAW80178;NP_001017368;Q8WZ73 Hs.13680 1711950;1730175;1739649;1767179;1851217;1853013;2117052;2140474;2145801;2145803;2156044;5015619;5037552;7183994;7184673 A008P23;A008R31;D11S3114;D17S1708;D17S1725E;D17S2135;D17S822E;D8S2279;G49586;RH69286;SHGC-32545;WI-15077;WI-16693 CARP-2;CARP2;FRING;RIFIFYLIN;RNF189;RNF34L CARP-2;E3 ubiquitin-protein ligase rififylin;FYVE-RING finger protein SAKURA;OTTHUMP00000163857;OTTHUMP00000163860;RING finger and FYVE-like domain-containing protein 1;RING finger protein 189;RING finger protein 34-like;caspase regulator CARP2;caspases-8 and -10-associated RING finger protein 2;fring;ring finger and FYVE-like domain containing 1 APPROVED protein-coding ENSG00000092871 24821 11489 609735 VALIDATED 7241230 RFPL4AP2 ret finger protein-like 4A pseudogene 2 100420059 ABBA01041912;AC090096;AMYH01018779;NG_026110 pseudo 45145 INFERRED 7241227 RFPL4AP4 ret finger protein-like 4A pseudogene 4 100420036 ABBA01070061;AC115621;AMYH01014604;NG_025174 2125463;2177763 G34307;SHGC4-1567 pseudo 45140 INFERRED 7241228 RFPL4AP5 ret finger protein-like 4A pseudogene 5 100420058 ABBA01037925;AC090573;AMYH01019011;NG_026072 pseudo 45144 INFERRED 7241229 RFPL4AP7 ret finger protein-like 4A pseudogene 7 100420055 ABBA01041663;AC092698;AMYH01018706;NG_026025 pseudo 45143 INFERRED 7242544 RFPL4AL1 ret finger protein-like 4A-like 1 19 q13.42 56283171 56284545 + 6480464 23000965 729974 F8VTS6 ABBA01161408;AC008749;AMYH01010008;NM_001277397;XM_003403478;XM_003960776;XM_003960960 F8VTS6;NP_001264326;XP_003403526;XP_003960825;XP_003961009 2150316 D1S2440 ret finger protein-like 4A-like protein 1 protein-coding 45147 INFERRED 1342907 RFT1 RFT1 homolog (S. cerevisiae) This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008] 3 3 3 p21.1 53089550 53131500 - 53099850 53139503 - 53122499 53164470 - 737633;1580863;6480464;6907045;7240710 12477932 18313027;11807558;22610502;20379614;19856127;19953087;21906983;21926972;20301507;21963094;23111317 91869 B5MDE0;C9JP01;Q96AA3 ABBA01024492;ABBA01024493;AC096887;AJ318099;AK098811;AL713685;AMYH01013191;BC006846;BC043595;BC101247;BC101248;BC101249;BC101250;BC113058;BC113059;CH471055;NG_009203;NM_052859 AAH06846;AAH43595;BAC05420;CAC69544;EAW65276;EAW65277;EAW65278;NP_443091;Q96AA3 Hs.631910 2187769;5015810;5015861;5016478;5017227;5022651;5037552;5493571;7185938 D10S16;D11S2921;D8S2279;G38154;G69469;GDB:182516;GDB:434012;UniSTS:487290 CDG1N;DKFZp667J092;FLJ25945 OTTHUMP00000082637;OTTHUMP00000082638;OTTHUMP00000214030;RFT1, requiring fifty three 1 homolog;protein RFT1 homolog;putative endoplasmic reticulum multispan transmembrane protein APPROVED protein-coding ENSG00000163933 30220 15239 611908;612015 REVIEWED 1345884 RFPL1S RFPL1 antisense RNA 1 22 22 22 q12 13632852 13637967 - 28163006 28168118 - 29833004 29838118 - 6480464 16344560;15461802;12477932;10508838 10740 ABBA01122870;AC000041;AJ010230;AMYH01012695;AW157535;BC027468;CR456561;DA509757;NR_002727 Hs.167750 1678603;1800734;1808096;1820044;1820394;1858423;2011940;2011972;2011974;2011982;2013290;2013292;2013314;2098422;2098424;2219626;5015961;5017078;5022200;5096919;5112886 D15S1477;ECD01228;ECD05026;ECD05489;ECD11094;ECD11272;L18426;REN76898;REN76914;REN76915;REN76916;REN76920;REN77580;REN77581;REN77582;REN77593;RFPL1__5486;RH46208;RH98366;stSG602598;stSG602599 NCRNA00006;RFPL1-AS;RFPL1-AS1;RFPL1AS APPROVED miscrna 9978 605972 VALIDATED 2881603 RFTN1P1 raftlin, lipid raft linker 1 pseudogene 1 Y Y Y p11.2 1576966 1640686 + 7640926 7704846 - 7581026 7644746 - 12815422 360015 ABBA01060154;ABBA01060155;ABBA01060156;ABBA01060157;ABBA01060158;ABBA01060159;AC007275;NG_002933 1770224;2113544;2188207;2188209;2188211;2188213;2188227 DYS260;DYS463A18;G66277;G66278;G66279;G66280;G66287 pseudo 23971 INFERRED 1347346 RFPL3S RFPL3 antisense 22 22 22 q12.3 16558065 16569235 - 31085893 31097063 - 32755893 32767063 - 6480464 12477932;10508838 10737 A2A280;J3QQV8;P0C7P2 ABBA01055375;AJ010233;AL021937;AMYH01012728;BC031635;BC042824;BC066983;BC090926;NR_001450;NR_002596 Hs.274285 1678603;1799436;1800492;1808096;1814418;1822226;1822704;1824008;1824396;1824398;1827572;1828762;1834484;1836184;2011932;2011938;2011950;2013304;2013306;2013308;2013310;2013312;2013314;2013316;2013318;2013320;2013322;2013324;2013326;2013328;2013330;2013332;2013334;2013336;2013338;2013340;2013342;2013344;2013346;2013348;2013350;2013352;2013354;2013356;2013358;2013360;2013362;2013364;2013366;2013368;2013370;2013372;2013374;2013376;2013378;2013380;2013382;2013384;2013386;2013388;2013390;2013392;2013394;2013396;2013398;2013400;2013402;2013404;2013406;2013408;2013410;2013412;2098416;2098642;2098644;2098646;2098648;2098650;2098652;2098654;2098656;2098658;2098660 ECD00569;ECD01106;ECD05026;ECD08238;ECD12199;ECD12440;ECD13100;ECD13296;ECD13297;ECD14903;ECD15508;ECD18390;ECD19253;REN76894;REN76897;REN76903;REN77588;REN77589;REN77590;REN77591;REN77592;REN77593;REN77594;REN77595;REN77596;REN77597;REN77598;REN77599;REN77600;REN77601;REN77602;REN77603;REN77604;REN77605;REN77606;REN77607;REN77608;REN77609;REN77610;REN77611;REN77612;REN77613;REN77614;REN77615;REN77616;REN77617;REN77618;REN77619;REN77620;REN77621;REN77622;REN77623;REN77624;REN77625;REN77626;REN77627;REN77628;REN77629;REN77630;REN77631;REN77632;REN77633;REN77634;REN77635;REN77636;REN77637;REN77638;REN77639;REN77640;REN77641;REN77642;RH98366;stSG602595;stSG602715;stSG602716;stSG602717;stSG602718;stSG602719;stSG602720;stSG602721;stSG602722;stSG602723;stSG602724 NCRNA00005;RFPL3-AS;RFPL3-AS1;RFPL3ANT;RFPL3AS;dJ149A16.3 APPROVED miscrna ENSG00000205853 9981 605971 PROVISIONAL 1351885 RFPL3 ret finger protein-like 3 22 22 22 q12.3 16553044 16559320 + 31080872 31087148 + 32750872 32757148 + 1580863;6480464 10508838;18656177;15461802;14702039;12477932;10591208 10738 O75679 ABBA01055375;AJ010232;AK097738;AL021937;AMYH01012728;BC031689;BC069753;CH471095;CR456564;NM_001098535;NM_006604 AAH31689;AAH69753;ABZ92295;ACE86625;ACE87306;CAA09046;CAG30450;CAK54595;CAK54894;EAW60019;NP_001092005;NP_006595;O75679 Hs.558455 1678603;1806752;1808096;1811064;1812858;1814418;1828592;1837946;2011950;2011960;2011966;2011968;2012024;2013250;2013252;2013254;2013256;2013258;2013260;2013262;2013264;2013266;2013268;2013270;2013272;2013274;2013276;2013278;2013280;2013282;2013284;2013286;2013288;2013290;2013292;2013294;2013296;2013298;2013300;2013302;2013304;2013306;2013308;2013310;2013312;2013314;2013316;2013318;2013320;2098420;2098434;2098632;2098634;2098636;2098638;2098640;2098642;5017078;5112886 ECD04334;ECD05026;ECD06530;ECD07442;ECD08238;ECD15423;ECD20144;REN76903;REN76908;REN76911;REN76912;REN76914;REN76941;REN77560;REN77561;REN77562;REN77563;REN77564;REN77565;REN77566;REN77567;REN77568;REN77569;REN77570;REN77571;REN77572;REN77573;REN77574;REN77575;REN77576;REN77577;REN77578;REN77579;REN77580;REN77581;REN77582;REN77583;REN77584;REN77585;REN77586;REN77587;REN77588;REN77589;REN77590;REN77591;REN77592;REN77593;REN77594;REN77595;REN77596;RH98366;stSG602597;stSG602604;stSG602710;stSG602711;stSG602712;stSG602713;stSG602714;stSG602715 OTTHUMP00000028632;OTTHUMP00000165867;ret finger protein-like 3 protein-coding ENSG00000128276 9980 09339 605970 VALIDATED 1353893 RFWD2P1 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1 18 18 18 p11.23 8296347 8298955 + 8402126 8404393 + 8411983 8414591 + 729391 ABBA01049933;AMYH01008798;AP001094;NG_016737 RFWD2P APPROVED pseudo 31900 INFERRED 1342537 RFPL2 ret finger protein-like 2 22 22 22 q12.3 16388684 16402982 - 30916425 30919466 - 32586422 32600718 - 1580863;6480464 10508838;18656177;15489334;15461802;14702039;12477932;10591208 10739 O75678;Q6NSX6 ABBA01055369;AJ010231;AK055999;AL008723;AMYH01012727;BC051910;BC069737;BC069827;CH471095;CR456563;DB549304;NM_001098527;NM_001159545;NM_001159546;NM_006605 AAH51910;AAH69737;AAH69827;ABZ92534;CAA09045;CAG30449;CAK54594;CAK54893;EAW60009;EAW60010;EAW60011;EAW60012;EAW60013;NP_001091997;NP_001153017;NP_001153018;NP_006596;O75678 Hs.157427 1808436;1808726;1808942;1809142;1811522;1817064;1820044;1820394;1820592;1821260;1824782;1826066;1827126;1837946;2011942;2011944;2011946;2011948;2011950;2011952;2011954;2011956;2011958;2011960;2011962;2011964;2011966;2011968;2011970;2011972;2011974;2011976;2011978;2011980;2011982;2011984;2011986;2011988;2011990;2011992;2011994;2011996;2011998;2012000;2012002;2012004;2012006;2012008;2012010;2012012;2012014;2012016;2012018;2012020;2012022;2012024;2012026;2012028;2012030;2012032;2012034;2012036;2012038;2012040;2012042;2012044;2012046;2012048;2012050;2012052;2012054;2012056;2012058;2012060;2012062;2012064;2012066;2012068;2012070;2012072;2012074;2012076;2012078;2012080;2013258;2013274;2013282;2013286;2013310;2098418;2098420;2098424;2098438;2219626;5112886 ECD05199;ECD05345;ECD05454;ECD05560;ECD06761;ECD09581;ECD11094;ECD11272;ECD11371;ECD11708;ECD13489;ECD14142;ECD14678;ECD20144;REN76899;REN76900;REN76901;REN76902;REN76903;REN76904;REN76905;REN76906;REN76907;REN76908;REN76909;REN76910;REN76911;REN76912;REN76913;REN76914;REN76915;REN76916;REN76917;REN76918;REN76919;REN76920;REN76921;REN76922;REN76923;REN76924;REN76925;REN76926;REN76927;REN76928;REN76929;REN76930;REN76931;REN76932;REN76933;REN76934;REN76935;REN76936;REN76937;REN76938;REN76939;REN76940;REN76941;REN76942;REN76943;REN76944;REN76945;REN76946;REN76947;REN76948;REN76949;REN76950;REN76951;REN76952;REN76953;REN76954;REN76955;REN76956;REN76957;REN76958;REN76959;REN76960;REN76961;REN76962;REN76963;REN76964;REN76965;REN76966;REN76967;REN76968;REN76969;REN77564;REN77572;REN77576;REN77578;REN77591;RFPL1__5486;stSG602596;stSG602597;stSG602599;stSG602606 RNF79 OTTHUMP00000028675;RING finger protein 79;ret finger protein-like 2 protein-coding ENSG00000128253 9979 09338 605969 VALIDATED 1606355 RFPL4B ret finger protein-like 4B 6 6 6 q21 113409815 113413781 + 112775225 112779191 + 112668532 112672498 + 14702039;12477932;21139048 442247 Q6ZWI9 ABBA01026077;AK122906;AL365214;AMYH01016597;BC132796;BC132798;NM_001013734 AAI32797;AAI32799;ADR82895;BAC85513;NP_001013756;Q6ZWI9 Hs.448264 RNF211 OTTHUMP00000218237;RING finger protein 211;ret finger protein-like 4B protein-coding ENSG00000251258 33264 18472 VALIDATED 1346229 RFWD2 ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 1 1 q25.1-q25.2 174180590 174442993 - 175913967 176176370 - 1580863;2316155;6480464;6484113;6907045 19450511 18815134;17968316;16931761;15492238;15103385;14739464;14702039;12615916;12477932;12466024;11461903;10395541;21145461;15994960;17079684;19322201;20677014;21572435;16949367;17805301;19741714;19805145;20379614;20959491;20843328;17041588;18029348;16497536;21297076;20333547;23091414;23269672;23289756;20062082;21135113;21625211;21890473;23439647;19295130 64326 E9PJB5;E9PKI0;E9PMW8;H0Y339;H0Y340;H0YF49;Q05CT6;Q8NHY2 ABBA01027863;ABBA01027864;ABBA01027865;ABBA01027866;AF508940;AF527539;AK001278;AK314750;AL162736;AL359265;AL513329;AL590723;AMYH01001516;AMYH01001517;AY509921;BC020845;BC039723;BC094728;BK000438;BX537932;CD101686;CH471067;NM_001001740;NM_022457 AAH20845;AAH94728;AAM34692;AAQ08989;AAS82851;BAG37289;BAG50884;DAA01050;EAW90999;EAW91000;EAW91001;EAW91002;NP_001001740;NP_071902;Q8NHY2 Hs.523744 1665225;1767564;2178922;5037552 AL009574;D1S2488;D8S2279;SHGC-75938 COP1;FLJ10416;RNF200;RP11-318C24.3 E3 ubiquitin-protein ligase RFWD2;OTTHUMP00000032911;OTTHUMP00000032912;OTTHUMP00000032913;OTTHUMP00000235258;RING finger and WD repeat domain protein 2;RING finger protein 200;constitutive photomorphogenesis protein 1 homolog;constitutive photomorphogenic protein (COP1);hCOP1;putative ubiquitin ligase COP1 APPROVED protein-coding ENSG00000143207 17440 07455 608067 VALIDATED 1349611 RFWD3 ring finger and WD repeat domain 3 16 16 16 q23.1 58948218 58993367 - 73212798 73258280 - 74655297 74700779 - 737633;6480464 12477932 17567985;15489334;14702039;19690564;19844255;20173098;19549727;21504906;21558276;21832049;21139048;21890473;21906983;21963094;21987572;19322201;22505724 55159 I3L284;I3L299;I3L2T2;I3L4I5;Q6PCD5 ABBA01058106;ABBA01058107;AC109599;AK001382;AK022673;AK291200;AK296727;AK315786;AMYH01007812;BC002574;BC059371;BM467919;BP872110;CH471114;NM_018124 AAH02574;AAH59371;BAA91662;BAB14169;BAF83889;BAG38132;BAG59315;EAW95680;EAW95681;NP_060594;Q6PCD5 Hs.567525 1699198;1705214;2160035;2180197;5022578;5037552 D16S2631;D1S1423;D8S2279;RH103179;SHGC-61385;SHGC-78076 FLJ10520;RNF201 E3 ubiquitin-protein ligase RFWD3;RING finger and WD repeat domain-containing protein 3;RING finger protein 201 protein-coding ENSG00000168411 25539 07678 614151 VALIDATED 1604380 RFTN1 raftlin, lipid raft linker 1 3 3 3 p24.3 16296470 16494283 - 16332356 16530226 - 16357352 16555222 - 6480464 17081983;16344560;15489334;12805216;12477932;7788527;20395239;19553259;19834535;20379614;21266579;23000965;23645746;21139048;22222511;22797925 23180 C9JHG2;C9JRN3;C9JWQ9;F8WAR1;G3XAJ6;Q14699;Q8N5I0 ABBA01025129;AC010727;AC090948;AK074446;AK301024;AK303846;AK310258;AMYH01013002;AU138240;AY237654;BC006400;BC014032;BC032349;BC041884;BC051336;BC069209;BC098270;BC100667;BC100669;BC121795;CH471055;D42043;NM_015150 AAH06400;AAH14032;AAH32349;AAH51336;AAH69209;AAH98270;AAI00668;AAI00670;AAI21796;AAO91814;BAA07644;BAG62640;BAG64789;EAW64273;EAW64274;EAW64275;NP_055965;Q14699 Hs.98910 1339445;1662520;1669141;1685958;1693488;1704886;1709712;1710196;1727073;1751715;1759455;2109735;2126817;2127552;2140296;2150862;2153021 D3S3473;D3S3885;G62938;RAFTLIN_9316;RH12058;RH25312;RH35828;RH78558;RH92877;SHGC-105736;SHGC-150983;SHGC-58196;SHGC-76751;SHGC-79918;SHGC-83722;SHGC-86345;UniSTS:31995 FLJ23866;KIAA0084;MGC141678;MGC44480;MIG2;PIB10;PIG9;RAFTLIN OTTHUMP00000211200;OTTHUMP00000211201;cell migration-inducing gene 2 protein;proliferation-inducing protein 10;proliferation-inducing protein 9;raft-linking protein;raftlin protein-coding ENSG00000131378 30278 17950 VALIDATED 1316421 RFTN2 raftlin family member 2 2 2 2 q33.1 192191399 192296503 - 198143773 198248829 - 198435527 198540584 - 6480464 15815621;15489334;14702039;12477932;23128233 130132 C9J6C2;H7BZ31;Q52LD8 ABBA01062486;ABBA01062487;ABBA01062488;AC020550;AC114800;AK055136;AMYH01011388;BC039690;BC093966;BC111069;BC113361;BX647618;CH471063;NM_144629 AAH93966;AAI11070;AAI13362;AAX93148;AAY24079;ADR83020;BAB70861;EAW70169;NP_653230;Q52LD8 Hs.591615 1661059 RH36623 C2orf11;FLJ30574;MGC117313;Raftlin-2 OTTHUMP00000163624;chromosome 2 open reading frame 11;raft-linking protein 2;raftlin-2 protein-coding ENSG00000162944 26402 12805 VALIDATED 1343231 RFX2 regulatory factor X, 2 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5932140 6049702 - 5944175 6061554 - 5993175 6110664 - 1580863;6480464 8289803;16189514;15229132;15024578;14702039;12477932;11986307;11682486;10330134;8889549;8661125;1505960;19913121;20628086;20381594;20889312;22415835 5990 K7EIN5;K7EJD4;K7EJE4;K7ELD5;K7ELQ7;K7ENC9;K7EQA0;K7EQU2;K7EQY9;K7ES56;P48378 ABBA01055982;AC005784;AC011444;AI149945;AI863426;AK024288;AK093977;AK291196;AK302661;AK303321;AMYH01009369;AMYH01009370;BC028579;BC071571;BI464247;BX648130;CH471139;DC400266;N23669;NM_000635;NM_134433;X76091 AAC62839;AAH28579;AAH71571;ABM86238;ABW03697;BAF83885;BAG51286;BAH13773;BAH13941;CAA53705;EAW69112;EAW69113;EAW69114;EAW69115;EAW69116;EAW69117;NP_000626;NP_602309;P48378 Hs.465709 1667774;2132183;2135794;5022651 D11S2921;RH41878;RH48363;SHGC-12012 FLJ14226 DNA binding protein RFX2;DNA-binding protein RFX2;HLA class II regulatory factor RFX2;regulatory factor X 2;trans-acting regulatory factor 2 APPROVED protein-coding ENSG00000087903 9983 00824 142765 REVIEWED 1315268 RFX1 regulatory factor X, 1 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. [provided by RefSeq, Jul 2008] 19 19 p13.1 13933352 13978097 - 14072342 14117134 - 1580863;6480464 8289803;16464847;1505960;19334528;18673564;17630394;16289097;16287876;15528357;15489334;15334059;15302935;15024578;12624117;12477932;12411430;11986307;11682486;11358531;10642512;10330134;9733744;9583676;8889548;8661125;8600444;8413236;8224874;2253877;1508204;16169070;22415835;10706293;20223637;11748221;15231748;19620312;20189986;20381594;21192791;23022380;20181721;21719561;22582395;22242598;22490869 5989 K7EIZ8;P22670 A20498;ABBA01029700;ABBA01029701;ABBA01029702;ABBA01029703;ABBA01029704;AC020916;AC022098;AI917511;AK309824;AMYH01009517;BC049826;BM557928;BM662273;CH471106;NM_002918;X58964 AAH49826;CAA01506;CAA41730;EAW84387;NP_002909;P22670 Hs.655215 1696984;1699048;1743053 GDB:250918;RH101964;RH103099 EFC;RFX MHC class II regulatory factor RFX;MHC class II regulatory factor RFX1;enhancer factor C;regulatory factor X 1;trans-acting regulatory factor 1;transcription factor RFX1 APPROVED protein-coding ENSG00000132005 9982 02476 600006 VALIDATED 2793201 RFX8 RFX family member 8, lacking RFX DNA binding domain 2 2 2 q11.2 96217462 96291111 - 101392873 101457169 - 102013823 102091165 - 6480464 11181995;14702039;15815621;23518928 731220 D6RAX4;E9PDA6;Q6ZV50 ABBA01073911;ABBA01073912;AC092570;AK124976;AK131289;AK298610;AMYH01010814;CH471127;NM_001145664 BAC86013;BAD18461;BAG60794;EAX01812;EAX01813;NP_001139136;Q6ZV50 Hs.662488 1686560;2114692 RH46418;RH98421 FLJ16242;FLJ42986;FLJ52890 DNA-binding protein RFX8;OTTHUMP00000207890;RFX gene family member 8, lacking RFX DNA binding domain;regulatory factor X 8;regulatory factor X, 8 APPROVED protein-coding ENSG00000196460 37253 VALIDATED 1354416 RFX4 regulatory factor X, 4 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 12 12 q24 105501163 105680711 + 106976685 107156582 + 6480464 16893423;17510980;18378158;18673564;19328558;18218630;17903297;16271074;15940297;14701801;12925582;12477932;11682486;10706293;8600444;1603086;16193984;21084426 5992 B4DZB7;F8VRD4;F8VU87;F8VX50;F8VZC4;F8W1T9;Q8NC78;R4GMS3 AB044245;AB095365;AB095366;AB195784;AB195785;ABBA01053162;ABBA01053163;ABBA01053164;AC009721;AC079385;AF332192;AI002078;AI191585;AK074913;AK291445;AK302837;AK315698;AL833921;AMYH01004724;AY102009;BC028582;BC030644;CH471054;DB445991;NM_001206691;NM_032491;NM_213594 AAH28582;AAH30644;AAK17191;AAM52484;ABM81757;ABM84912;BAB59001;BAC11288;BAE48231;BAE48232;BAE48237;BAE48238;BAF84134;BAG38061;BAG64029;CAD38777;EAW97782;EAW97783;EAW97784;NP_001193620;NP_115880;NP_998759;Q33E94 Hs.388827 1676278;1703404;1712430;1712482;1712486;1712488;1713501;1718329;1772115;1798078;1848611;1853315;1855452;2154336;2187649 1812;D12S1331;D12S1412;D12S1848;D12S2024;D12S2072;G54190;G54192;G54193;G54250;RFX4_2241;RH120234;RH123678;RH98710;SHGC-68717 NYD-SP10 OTTHUMP00000240312;OTTHUMP00000240314;OTTHUMP00000240316;regulatory factor X 4;regulatory factor X4, isoform c;testis development protein NYD-SP10;transcription factor NYD-sp10;transcription factor RFX4;winged-helix transcription factor RFX4 APPROVED protein-coding ENSG00000111783 9985 04905 603958 REVIEWED 1603966 RFX7 regulatory factor X, 7 RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009] 15 15 15 q21.3 33271513 33424273 - 54170023 54322775 - 56382731 56535483 - 6480464 18673564;15302935;14702039;12477932;20062064 64864 C9JU50;H0YLP2;H0YLX2;H0YMH6;Q2KHR2 ABBA01039009;ABBA01039010;AC068726;AC084783;AK023056;AK024757;AK126103;AK128045;AL832584;AL833367;AL834302;AMYH01006675;AMYH01006676;BC112936;BC143438;CH471082;DW009813;NM_022841 AAI12937;AAI43439;BAB14381;BAB14988;BAC86441;BAC87248;CAD38972;EAW77498;EAW77499;NP_073752;Q2KHR2 Hs.282855 1697392;2129922;2156038;2184941;2186152 D15S616E;RH102195;SHGC-34060;STS-N40998;WI-4242 FLJ12994;FLJ21104;MGC131836;RFXDC2 DNA-binding protein RFX7;regulatory factor X domain containing 2;regulatory factor X domain-containing protein 2 APPROVED protein-coding ENSG00000181827 25777 07807 612660 VALIDATED 1317168 RFX3 regulatory factor X, 3 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Two transcript variants encoding different isoforms have been described for this gene, and at least one of the variants utilizes alternative polyadenylation signals. [provided by RefSeq, Jul 2008] 9 9 9 p24.2 3142942 3444468 - 3214645 3515983 - 3224645 3525983 - 6480464 8289803;12411430;16189514;15489334;15164053;15024578;12477932;11682486;10330134;8600444;22415835;19671664;20211142;21532573 5991 A9Z1Z2;F6UGA0;F6USP3;F6UV76;F6XM74;H0Y790;H0Y7W5;H0Y7Z4;Q95HL5 ABBA01065429;ABBA01065430;ABBA01065431;ABBA01065432;ABBA01065433;AI811824;AK289540;AK310956;AL133549;AL354941;AL365202;AL603631;AMYH01019197;AMYH01019198;AW152407;BC022191;BC067778;CH471071;NM_002919;NM_134428;X76092 AAH22191;AAH67778;BAF82229;CAA53706;EAW58794;EAW58795;EAW58796;EAW58797;EAW58798;EAW58799;NP_002910;NP_602304;P48380 Hs.136829 1335162;1798076;2151539;2181019 D9S1708;D9S939;RFX3_2153;STS-R89225 MGC87155;bA32F11.1 DNA binding protein RFX3;OTTHUMP00000020993;OTTHUMP00000020994;regulatory factor X 3;transcription factor RFX3 APPROVED protein-coding ENSG00000080298 9984 03215 601337 REVIEWED 1316716 RFX6 regulatory factor X, 6 The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010] 6 6 6 q22.1 117941504 117996443 + 117305069 117360007 + 117198376 117253326 + 1580863;6480464 18673564;16189514;12477932;20676098;21215266;20148032;22662242;21750414;21965172;21988832 222546 Q8HWS3 ABBA01026045;AL355272;AMYH01016617;BC039248;BQ269808;CA842450;CA947154;CH471051;NG_027699;NM_173560 AAH39248;EAW48212;EAW48213;NP_775831;Q8HWS3 Hs.352276 2127835 D6S2158 MGC33442;MTFS;RFXDC1;dJ955L16.1 DNA-binding protein RFX6;OTTHUMP00000017079;regulatory factor X domain containing 1;regulatory factor X domain-containing protein 1 APPROVED protein-coding ENSG00000185002 21478 11490 601346;612659 REVIEWED 1323259 RFX5 regulatory factor X, 5 (influences HLA class II expression) A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008] 1 1 q21 149579740 149586393 - 151313116 151319769 - 1599742;1599743;1580863;6480464;6907045;7240710 9401005;7744245 22939629;16464847;9806546;18842294;18723135;17611194;16710414;15489334;10072068;9190936;9177217;9118943;8125298;10779326;10079298;11003667;15253423;15210800;12968017;12477932;12368908;11986307;11244040;10825209;20732328;15964851;19041327;12697811;23079621;20431927;22649097 5993 B7Z848;F2Z2G0;F6R6G4;F6S3S0;F6TYI9;F6U6P3;F6UE82;F6X8N2;F6X9D6;F8W689;F8WDU3;F8WFE4;H0Y4B4;P48382 ABBA01049391;AK223526;AK302891;AK309072;AK311525;AK312289;AL050135;AL391069;AMYH01001387;BC017471;BX423384;CH471121;NG_007576;NM_000449;NM_001025603;X85786 AAH17471;ABM83308;ABM86520;BAD97246;BAG35216;BAH13834;CAA59771;CAB43285;EAW53446;EAW53447;EAW53448;NP_000440;NP_001020774;P48382 Hs.632472 1663896;1668409;1776497;1798080;1799954;1800716;1801046;1802090;1802092;1802752;1805628;1825558;1925836;1925838;1925840;1925842;1925844;1925846;1925848;1925850;1925852;1925854;1925856;1925858;1925860;1925862;1925864;1925866;1925868;1925870;1925872;1925874;1925876;1925878;1925880;1925882;1925884;1925886;1925888;1925890;1925892;1925894;1925896;1925898;1925900;1925902;1925904;1925906;1925908;2123579;2207658;2207660;2207662;2207664;2207666;5112329 ECD00831;ECD01219;ECD01391;ECD01927;ECD01928;ECD02263;ECD03764;ECD13887;REN33743;REN33744;REN33745;REN33746;REN33747;REN33748;REN33749;REN33750;REN33751;REN33752;REN33753;REN33754;REN33755;REN33756;REN33757;REN33758;REN33759;REN33760;REN33761;REN33762;REN33763;REN33764;REN33765;REN33766;REN33767;REN33768;REN33769;REN33770;REN33771;REN33772;REN33773;REN33774;REN33775;REN33776;REN33777;REN33778;REN33779;RFX5_2147;RH103469;RH47537;RH67835;SHGC-31587;WI-21861;stSG627123;stSG627124;stSG627125;stSG627126;stSG627128 DNA-binding protein RFX5;OTTHUMP00000014465;OTTHUMP00000081737;OTTHUMP00000082795;OTTHUMP00000082796;OTTHUMP00000196318;OTTHUMP00000196320;OTTHUMP00000196321;regulatory factor X 5 APPROVED protein-coding ENSG00000143390 9986 03517 209920;601863 REVIEWED 1348538 RFXAP regulatory factor X-associated protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 q14 36291339 36301740 + 37393339 37403740 + 1580863;6480464;6907045;7240710 9118943;18723135;18336911;16337482;15781111;15210800;12477932;12136098;11463838;11244040;10825209;10072068;9806639;9287230;8717517;8290561;19274739;20024540;15964851;20732328;20431927;22939629;21988832 5994 O00287 ABBA01021353;AJ327174;AK313912;AL159973;AMYH01005039;BC026088;BI823132;CH471075;NG_007876;NM_000538;Y12812 AAH26088;ABM82095;ABM84507;ABM85278;BAG36635;CAA73338;EAX08574;EAX08575;NP_000529;O00287 Hs.24422 1778925;2176531;5097041 G62030;WI-16351;WI-22737 OTTHUMP00000018260;RFX DNA-binding complex 36 kDa subunit;RFX-associated protein;regulatory factor X-associated protein APPROVED protein-coding ENSG00000133111 9988 03515 209920;601861 REVIEWED 1350874 RGAG4 retrotransposon gag domain containing 4 X X X q13.1 71691161 71695444 - 71263688 71268476 - 71346960 71351751 - 6480464 16093683;15772651;15716091;12056414;12477932;16936636 340526 Q5HYW3 AB082532;ABBA01046183;ABBA01046184;AL359579;AMYH01022553;BC151224;BX119917;NG_021352;NG_029583;NM_001024455 AAI51225;BAC02710;CAB94872;NP_001019626;Q5HYW3 Hs.512180 2168073;2183788 A007B16;AF020216 6430402L03Rik;KIAA2001;Mar5;Mart5 OTTHUMP00000023523;retrotransposon gag domain-containing protein 4 protein-coding ENSG00000242732 29430 18594 VALIDATED 1322827 RFXANK regulatory factor X-associated ankyrin-containing protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] 19 19 p12 19164008 19173678 + 19303008 19312678 + 1599746;1580863;6480464;6907045;7240710 12618906 17353931;10072068;9806546;18723135;16166641;15964851;15057824;12477932;11836625;11463838;11042152;10825209;10803838;10725724;10329666;8889548;11003667;20414676;21908431;22242598;22649097;21963094;21890473;21906983 8625 F5GY33;F5H1K6;F5H7D2;H0YFU5;H0YFZ0;H0YGQ6;J3KPZ8;K7ENE6;O14593;Q24JQ1 ABBA01051318;AC002126;AC003110;AD000812;AF077196;AF094760;AF105427;AF105428;AMYH01009606;AW411190;AW411361;BC114558;BC114563;BG740813;BM682278;BM712354;CH471106;CR456981;CR542199;CX871218;NG_007432;NM_001278727;NM_001278728;NM_003721;NM_134440;X75690 AAB86654;AAC69883;AAD17972;AAD17973;AAD26991;AAI14559;AAI14564;CAG33262;CAG46996;EAW84795;EAW84796;EAW84797;EAW84798;EAW84799;NP_001265656;NP_001265657;NP_003712;NP_604389;O14593 Hs.153629;Hs.296776 2186872;5022771;5113050 RFXANK;RH35911;STS-N25631 ANKRA1;BLS;F14150_1;MGC138628;RFX-B DNA-binding protein RFXANK;OTTHUMP00000240437;OTTHUMP00000240438;OTTHUMP00000240439;OTTHUMP00000240440;OTTHUMP00000240442;OTTHUMP00000240443;RFX-Bdelta4;ankyrin repeat family A protein 1;ankyrin repeat-containing regulatory factor X-associated protein;regulatory factor X subunit B APPROVED protein-coding ENSG00000064490 9987 04435 209920;603200 REVIEWED 1319015 RGL1 ral guanine nucleotide dissociation stimulator-like 1 1 1 1 q25.3 156716240 157008586 + 181871831 182164289 + 183605208 183897666 + 1580863;6480464 10760592;10545207;18951430;15342556;12477932;10231032;20379614;20936779;20360315;21832049;23273568 23179 B7Z2W5;F5H6U6;Q9NZL6 AB023176;ABBA01027742;ABBA01027743;ABBA01027744;ABBA01027745;ABBA01027746;ABBA01027747;AF186779;AF186780;AF186798;AK295179;AK295611;AK304293;AK311701;AK311716;AK316526;AL080117;AL137800;AL157899;AL590422;AL592299;AMYH01001553;AMYH01001554;BC039250;BC136591;BP235344;BX537416;CH471067;NM_015149 AAF67280;AAF67281;AAG14400;AAG14401;AAI36592;BAA76803;BAH12001;BAH12125;BAH14151;BAH14897;CAB45716;CAD97658;EAW91165;EAW91166;EAW91167;EAW91168;NP_055964;Q9NZL6 Hs.497148 1658436;1667009;1692034;1699502;1699908;1711202;1712266;1753951;1851340;2112366;2115219;2130388;2186541 AL009889;AL033670;D1S3634;G19310;G54041;RH103345;RH103562;SHGC-58249;SHGC-75978;SHGC-76026;SHGC-85356;SHGC-89351;STS-Z40837 KIAA0959;RGL OTTHUMP00000033268;OTTHUMP00000033379;ral guanine nucleotide dissociation stimulator-like 1;ralGDS-like 1 protein-coding ENSG00000143344 30281 12032 605667 VALIDATED 1320262 RGL3 ral guanine nucleotide dissociation stimulator-like 3 19 19 19 p13.2 11399604 11424860 - 11366001 11391004 - 11504732 11530018 - 737633;6480464 12477932 16344560;14702039;19913121;20628086;21906983 57139 H3BN42;H3BQS8;H3BRW0;K7EIS7;K7EMV7;Q3MIN7 ABBA01029856;ABBA01029857;AC024575;AK057147;AK096811;AK126263;AK293404;AK298281;AMYH01009483;AMYH01009484;AMYH01009485;BC014426;BC064475;BC101756;BC111958;BC143530;BM992649;CH471106;DB184397;NM_001035223;NM_001161616 AAH14426;AAI01757;AAI11959;AAI43531;BAG53366;BAG56911;BAG60541;EAW84209;EAW84210;EAW84211;EAW84212;NP_001030300;NP_001155088;Q3MIN7 Hs.375142 1650173;1697172;1749185;2219628;5015404;5016596;5024413 GDB:631802;L17705;L17877;RGL3__5490;RH102074;RH45126;SHGC-110871 FLJ00153;FLJ32585;FLJ44275;MGC126805;MGC138163 RalGEF-like protein 3, mouse homolog;ral guanine nucleotide dissociation stimulator-like 3;ralGDS-like 3 protein-coding ENSG00000205517 30282 VALIDATED 1352806 RGAG1 retrotransposon gag domain containing 1 X X X q23 110141909 110179186 + 109548941 109586217 + 109662285 109699562 + 18029348;16093683;15716091;15489334;12477932;10718198 57529 E5RKA1;Q8NET4 AB037739;ABBA01043399;ABBA01043400;ABBA01043401;ABBA01043402;ABBA01043403;ABBA01043404;ABBA01043405;ABBA01043406;AC000113;AK302427;AMYH01022840;AY121804;BC113670;BC117184;CH471120;NG_016402;NM_020769 AAI13671;AAI17185;AAM82752;BAA92556;BAG63730;EAX02659;NP_065820;Q8NET4 Hs.201071 1702716;2128498;2150189;2161165 DXS287;DXS9727;L77264;L77265 KIAA1318;MGC142230;Mar9;Mart9 OTTHUMP00000023850;retrotransposon gag domain-containing protein 1;tumor antigen BJ-HCC-23;tumor antigen BJHCC23 protein-coding ENSG00000243978 29245 06600 VALIDATED 1606411 RGL4 ral guanine nucleotide dissociation stimulator-like 4 22 22 22 q11.23 7872144 7880459 + 22363048 22371363 + 24033048 24041363 + 6480464 12874025;12477932;12140761;10851075;10591208;9178890;9154803 266747 B5MCW5;E7EPT8;E9PH21;H7C063;Q8IZJ4 ABBA01055117;AK131340;AMYH01012646;AP000347;AY101396;BC101108;BC101109;BC101110;CH471095;NM_153615 AAI01109;AAI01110;AAI01111;AAM51551;BAD18497;EAW59594;EAW59595;NP_705843;Q8IZJ4 Hs.658997 2136927;2137589 AF021122;D20S608 MGC119678;MGC119680;Rgr OTTHUMP00000198314;OTTHUMP00000198315;OTTHUMP00000198318;Ral-GDS related protein Rgr;RalGDS related oncogene;hRGR;ral-GDS-related protein;ralGDS-like 4 protein-coding ENSG00000159496 31911 11528 612214 PROVISIONAL 733140 RGCC regulator of cell cycle This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008] 13 13 q14.11 40929542 40943013 + 42031542 42045013 + 6480464 9756947;19270026;19162005;19158077;18308847;17146433;17081983;15932515;15713436;15591621;15489334;15057823;14702039;12477932;11687586;8889548;20635389;22163048;19652095;19883641;20862745;21833088;21307346;18029348;21990365;23000427 28984 Q9H4X1 ABBA01021266;AF036549;AK091099;AK095079;AL354833;AMYH01005064;BC038706;BC066334;BU679672;CH471075;DB451897;NM_014059 AAF04336;AAH66334;EAX08663;EAX08664;NP_054778;Q9H4X1 Hs.507866 1667436;1681456;1737521;1849136;5020948;5037552;5091519 D13S1050;D8S2279;G35510;RH44804;RH45336;RH93770;SHGC-36498 C13orf15;KIAA0564;MGC87338;RGC-32;RGC32;bA157L14.2 OTTHUMP00000018322;regulator of cell cycle RGCC;response gene to complement 32 protein;rgc32 protein APPROVED protein-coding ENSG00000102760 20369 17970 610077 REVIEWED 1323724 RGMA RGM domain family, member A This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 15 15 q26.1 91387641 91433437 - 93586636 93632443 - 737633;6480464;6484113 12477932 22566498;15084667;15258590;16344560;17615080;21044950;22367090;22396795;11256614;19303019;19273616;18367154;17606441;17472960;16381901;16303743;16216939;15489336;15489334;14702039;11230166;11076863;16169070;18485097;19458235;19698085;20072140;21467223;21183991;21617229;22076499;23028342 56963 B7Z5S8;F5GZU6;F5H7G2;G3V3Z3;G3V4C2;G3V518;G3V545;H3BQ68;Q96B86 ABBA01053104;AC087641;AK074910;AK074966;AK074980;AK125047;AK125204;AK299363;AK309814;AL136826;AL390083;AMYH01006936;BC015886;BC127826;BC140838;BC151132;CH471101;CQ782935;CQ782957;CQ783740;DA183348;DA295545;DA453869;DA512691;DA805034;DC317516;NM_001166283;NM_001166286;NM_001166287;NM_001166288;NM_001166289;NM_020211 AAH15886;AAI27827;AAI40839;AAI46683;AAI51133;BAC11285;BAC11321;BAC11330;BAG54165;BAH13014;CAB66760;CAB98207;CAF86163;CAF86186;CAF86838;CAL37563;EAX02166;EAX02167;NP_001159755;NP_001159758;NP_001159759;NP_001159760;NP_001159761;NP_064596;Q96B86 Hs.271277 1664881;1728703;2109753;2151564;2164165 A008J37;G63723;RGMA__6886;RH47538;WI-17713 RGM OTTHUMP00000246838;OTTHUMP00000246839;OTTHUMP00000246841;repulsive guidance molecule A APPROVED protein-coding ENSG00000182175 30308 09560 607362 REVIEWED 1605443 RGPD2 RANBP2-like and GRIP domain containing 2 2 2 p11.2 87837832 87874341 - 88056717 88125286 - 17081983;15815621;15710750;20360068;22488850;22505724 729857 B4DYH0;J3QTV4;P0DJD1 AC093616;AK298885;AK300276;AK300352;AK302429;AMYH01010596;AMYH01010597;AMYH01010598;AMYH01010599;AMYH01010600;AMYH01010601;AMYH01010602;AMYH01010603;AMYH01010604;AMYH01010605;AMYH01010606;AMYH01010607;AMYH01010608;AMYH01010609;AMYH01010610;AMYH01010611;AMYH01010612;AMYH01010613;AMYH01010614;AY354203;NM_001078170 AAQ63888;BAG60998;BAG62036;BAG62094;BAG63732;NP_001071638;P0DJD1 Hs.652430;Hs.728970 1645387;1673898;1683016;1760011;1760511;1773826;1797200;1848149;2120951;2123977;2127901;2132577;2182022;5016889;5016895;5019090;5113357 DXS7382;DXS7383;RH16188;RH17794;RH18435;RH65147;RH67924;RH79061;RH79781;RH98799;SHGC-105852;SHGC-14180;SHGC-143605;SHGC-36406;SHGC-6658;SHGC-79048;WBP1 FLJ56975;NUP358;RANBP2L2;RGP2 OTTHUMP00000203595;RANBP2-like and GRIP domain-containing protein 2;Ran binding protein 2-like 2;nucleoporin;ran-binding protein 2-like 2;ranBP2-like 2 protein-coding 32415 18641 612705 VALIDATED 7245800 RGMB-AS1 RGMB antisense RNA 1 12477932;14702039 503569 ABBA01069204;AC008522;AK093265;AMYH01015493;BC029880;BC042169;NR_033932 Hs.586188 miscrna ENSG00000246763 48666 VALIDATED 1602617 RGPD1 RANBP2-like and GRIP domain containing 1 2 2 p11.2 86994417 87094610 + 87144738 87241099 + 6480464 17081983;16344560;15815621;15710750;19913121;20628086;17643375;22939629;20360068 400966 F8VYC4;H7C1V8;P0DJD0 AC111200;AF237700;AK303443;AMYH01010509;AMYH01010510;AMYH01010511;AMYH01010512;AMYH01010513;AMYH01010514;AMYH01010515;AMYH01010516;AMYH01010517;AMYH01010518;AMYH01010519;AMYH01010520;AMYH01010521;AMYH01010522;AMYH01010523;AMYH01010524;AMYH01010525;AMYH01010526;AMYH01010527;AMYH01010528;AMYH01010529;AMYH01010530;AMYH01010531;CR749330;DA725306;DC343949;DC353941;DC378175;NM_001024457 AAF64155;AAI72352;BAG64489;CAH18184;NP_001019628;P0DJD0 Hs.728970 1797200;5016889;5016895;5019090;5021529;5113357;5126146 D2S2643;RH16188;RH65147;RH79781;SHGC-53196;SHGC-79048;WBP1 FLJ58076;RGP1;RGPD2;RanBP2L2 OTTHUMP00000203674;RANBP2-like and GRIP domain-containing protein 1;RANBP2-like and GRIP domain-containing protein 1/2;ran-binding protein 2-like 2/6;ran-binding protein 2-like 6;ranBP2-like 2/6;ranBP2-like 6;ranBP2L6 protein-coding ENSG00000187627 32414 612704 VALIDATED 1347432 RGL2 ral guanine nucleotide dissociation stimulator-like 2 6 6 p21.3 33367414 33374716 - 33259431 33267165 - 1580863;6480464 9545376;8976381;18540861;17474147;16344560;16169070;15489334;14702039;12477932;11230166;10079301;9521053;8939933;15031288;20936779;20801877;19851445;21160498;21906983 5863 A2AB89;B4DG72;O15211 AB012295;ABBA01038140;AK095967;AK294442;AL050259;AL662820;AL662827;AMYH01016243;BC000316;BC005037;BC032681;BC040989;BX000343;BX248088;BX648015;CH471081;CR759786;CR759817;D85757;DA158284;DB076334;NM_001243738;NM_004761;U68142;Z97184 AAC50818;AAH00316;AAH05037;AAH32681;AAH40989;BAA36193;BAA75926;BAG57683;CAB09992;CAB43361;CAC88186;EAX03708;EAX03709;EAX03710;EAX03711;EAX03712;EAX03713;EAX03714;NP_001230667;NP_004752;O15211 Hs.509622 1676436;1769932;1788900;1852663;2117369;2181737 D6S1891;MARC3086-3087;RH15812;RH67825;RH98925;STS-W74659 HKE1.5;KE1.5;RAB2L GDS-related protein;OTTHUMP00000029085;RAB2, member RAS oncogene family-like;ral guanine nucleotide dissociation stimulator-like 2;ralGDS-like 2;ralGDS-like factor;ras-associated protein RAB2L protein-coding ENSG00000237441 9769 03810 602306 VALIDATED 1323378 RGP1 RGP1 retrograde golgi transport homolog (S. cerevisiae) 9 9 9 pter-p22.1 35682828 35686815 + 35739203 35742871 + 35749277 35753264 + 737633;6480464 12477932 15489334;9039502;17207965;23091056;21139048;21906983;22797925 9827 A8K0K1;J3KQV2;Q92546 ABBA01064987;AK289566;AL133410;AMYH01019347;BC001725;CH471071;D87447;NM_001080496 AAH01725;ADQ32168;BAA13388;BAF82255;EAW58343;NP_001073965;Q92546 Hs.493804 1661734;1678753;2191811 MARC_8221-8222:996688418:1;RH69919;RH80781 KIAA0258 OTTHUMP00000021349;retrograde Golgi transport protein RGP1 homolog protein-coding 21965 VALIDATED 1602942 RGPD7 RANBP2-like and GRIP domain containing 7 2 q13 111012128 111052778 - 15815621;15710750;11230166;9480752 652919 AC123886;NM_001037866 AAI56283;AAY14839;NP_001032955;Q9H0B2 Hs.712500 RGP7 protein-coding 32420 1602819 RGPD4 RANBP2-like and GRIP domain containing 4 2 2 q12.3 107809820 107874158 + 108443388 108509000 + 15815621;15710750;19596235;21906983;22505724 285190 J3KNY6;Q7Z3J3 AC009963;AC096655;AK302921;AMYH01010848;AMYH01010849;AMYH01010850;AMYH01010851;AMYH01010852;BX537861;NM_182588 BAG64086;CAD97866;NP_872394;Q7Z3J3 Hs.449164 1771700;5016895;5019090;5037552;5091929;5107903;5109585;5124242;5124960 D2S1552E;D2S2897;D8S2279;RH11823;RH16188;RH35930;RH69629;SHGC-53224;SHGC-79048 DKFZp686P0288;RGP4 OTTHUMP00000203360;ranBP2-like and GRIP domain-containing protein 4 protein-coding 32417 612707 VALIDATED 732128 RGN regucalcin The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in two transcript variants having different 5' UTRs, but encoding the same protein. [provided by RefSeq, Jul 2008] X X p11.3 46822719 46837656 + 46937775 46952712 + 6480464;6907045 22121208;18507831;15962315;15772651;15714273;15502314;15489334;15358188;12619687;12477932;11944989;10677570;10360682;8125298;7548213;19946731;15604093;19347872;19690176;19801822;21431902;21047503;22652898;21684279;21680783;21347421;23349732 9104 Q15493 AB028125;AB032064;ABBA01052296;ABBA01052297;AK223360;AK290136;AL513366;AMYH01022256;AMYH01022257;AMYH01022258;BC050371;BC058880;BC073173;CH471164;D31815;NM_004683;NM_152869 AAH50371;AAH73173;BAA06602;BAA78693;BAA84082;BAD97080;BAF82825;EAW59279;EAW59280;NP_004674;NP_690608;Q15493 Hs.77854 2108423;2146097 RGN_8898;RH12606 GNL;RC;SMP30 OTTHUMP00000023195;OTTHUMP00000023196;SMP-30;gluconolactonase;regucalcin;senescence marker protein 30;senescence marker protein-30 APPROVED protein-coding ENSG00000130988 9989 02196 300212 REVIEWED 1602139 RGPD3 RANBP2-like and GRIP domain containing 3 This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011] 2 2 q13 106387568 106451233 - 107021136 107084801 - 15815621;15710750;21890473;21906983;22505724 653489 A6NKT7;J3KNE0 AC097527;AC114755;AK310529;AMYH01010843;AMYH01010844;AMYH01010845;NG_021160;NM_001144013 A6NKT7;NP_001137485 Hs.726367 1771700;5016895;5019090 RH11823;RH16188;SHGC-79048 RGP3 OTTHUMP00000203308;ranBP2-like and GRIP domain-containing protein 3 APPROVED protein-coding ENSG00000153165 32416 612706 REVIEWED 1601953 RGPD5 RANBP2-like and GRIP domain containing 5 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008] 2 2 q13 109907624 109972552 + 110550335 110615263 + 6480464 15815621;15710750;14702039;12905863;11774384;11230166;10101573;9480752;19615732;20360068;22505724 84220 C9J1P2;C9J1W9;C9J6W1;H0YBN8;Q99666 AB209082;AC013271;AL044843;AL136868;BU631831;CA446006;CR936614;NM_005054;NM_032260;U64675 AAB41848;AAI48414;AAY14902;BAD92319;CAB66802;CAI56757;NP_005045;NP_115636;Q99666 Hs.469630 5015879;5016478;5016895;5024402;5091929;5109585;5124960 D2S1552E;D2S2897;GDB:314949;GDB:434012;RH16188;RH35930;WI-15297 BS-63;BS63;DKFZp686I1842;RGP5;RGPD6 OTTHUMP00000161611;OTTHUMP00000161612;RANBP2-like and GRIP domain-containing protein 5;RANBP2-like and GRIP domain-containing protein 5/6;RANBP2-like and GRIP domain-containing protein 6;ran-binding protein 2-like 1;ran-binding protein 2-like 1/2;ran-binding protein 2-like 2;ranBP2-like 1;ranBP2-like 1/2;ranBP2-like 2;ranBP2L1;ranBP2L2;sperm membrane protein BS-63 APPROVED protein-coding ENSG00000015568 32418 04128 612708 REVIEWED 1350725 RGMB RGM domain family, member B RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009] 5 5 5 q15 93989124 94016323 + 98132900 98160098 + 98104999 98132198 + 6480464;6484113 22415859;15671031;15489334;14985445;14702039;12477932;21182207;21617229;22076499;23744777 285704 J3KNF6;Q6NW40 ABBA01069203;ABBA01069204;AC008522;AK054622;AK074887;AK125284;AMYH01015493;BC020513;BC044231;BC067736;BG251558;BI763873;CH471084;CQ783726;NM_001012761 AAH67736;BAC11268;CAF86831;EAW96093;EAW96094;EAW96095;NP_001012779;Q6NW40 Hs.526902 1662486;2135338 RH44931;STS-N24666 DKFZp434P228;DRAGON;FLJ90406;MGC86970 DRG11-responsive axonal guidance and outgrowth of neurite;OTTHUMP00000222628;OTTHUMP00000222629;RGM domain family member B;repulsive guidance molecule B APPROVED protein-coding ENSG00000174136 26896 15243 612687 VALIDATED 1603061 RGPD6 RANBP2-like and GRIP domain containing 6 2 2 q13 110705708 110770601 - 111271379 111336309 - 6480464 15815621;15710750;14702039;9480752;11230166;12477932;18220336;18669648;17342744;20360068;22505724 729540 C9J1P2;C9JF75;H0YBN8;H7BZ48;Q99666 AC108938;AC109815;AC123886;AC226101;AK056675;AMYH01010915;NM_001037866;NM_001123363 AAI56283;AAY14839;AAY24132;NP_001032955;NP_001116835;Q99666 Hs.645445 1651210;5016895;5024402;5091929;5109585;5124960 D2S1552E;D2S2897;DXS7625;RH16188;RH35930;WI-15297 MGC190070;RGP6;RGPD5;RGPD7;RanBP2L1;RanBP2L2 OTTHUMP00000216489;OTTHUMP00000225220;RANBP2-like and GRIP domain-containing protein 5/6;RANBP2-like and GRIP domain-containing protein 7;RANBPL1;ran-binding protein 2-like 1/2;ranBP2-like 1/2;sperm membrane protein BS-63 protein-coding ENSG00000183054 32419 612709 VALIDATED 1601778 RGPD8 RANBP2-like and GRIP domain containing 8 2 2 2 q13 106577962 106578225 - 112842209 112907992 - 113125946 113191222 - 6480464 9480752;15710750;12477932;21906983;20360068;22505724 727851 C9J6W1;F8W705;H0YBN8;J3KQ37;O14715 ABBA01074258;AC112246;AC115115;AF012086;AMYH01010953;AMYH01010954;AMYH01010955;AMYH01010956;AMYH01010957;AMYH01010958;AMYH01010959;AMYH01010960;AMYH01010961;AMYH01010962;AMYH01010963;BC020901;BC037274;NM_001164463 AAC05596;NP_001157935;O14715 Hs.469630;Hs.535589 5016895;5024402;5091929;5109585;5124960 D2S1552E;D2S2897;RH16188;RH35930;WI-15297 RANBP2L1;RGP8;RanBP2alpha OTTHUMP00000203605;OTTHUMP00000225155;OTTHUMP00000225157;RAN binding protein 2-like 1;RANBP2-like and GRIP domain-containing protein 8;ran-binding protein 2-like 3;ranBP2-like 3;ranBP2L3 protein-coding 9849 602752 VALIDATED 1321340 RGS11 regulator of G-protein signaling 11 The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 518212 525816 - 258311 265915 - 318310 325914 - 1580863;6480464 9789084;15616553;14702039;12477932;11829488;11157797;10339615;9315921;19497306;20453000;20627871;18468998 8786 B7Z1X0;B7Z285;H7C5Z0;O94810;Q4TT70 AB016929;AB209582;ABBA01030381;AC004754;AE006463;AF035153;AF035154;AK091701;AK293564;AK294448;AK308972;AMYH01006987;AMYH01006988;BC040504;BC141803;CH471112;NM_003834;NM_183337;Z69667 AAC69175;AAC69176;AAH40504;AAI41804;AAI48400;AAI53020;AAK61221;BAA74751;BAD92819;BAH11537;BAH11771;CAI95581;CAI95582;CAI95583;EAW85839;EAW85840;EAW85841;EAW85842;EAW85843;NP_003825;NP_899180;O94810 Hs.65756 1681060;1736586;1799812;1802368;1804778;1805468;1808658;1814346;1819016;1820840;1821192;2048366;2048368;2048370;2048372;2048374;2048376;2048378;2048380;2048382;2048384;2048386;2048388;2048390;2048392;2048394;2048396;2048398;2048400;2048402;2048404;2048406;2048408;2048410;2048412;2048414;2048416;2048418;2048420;2048422;2048424;2048426;2048428;2048430;2048432;2048434;2048436;2048438;2048440;2048442;2048444;2104570;2104572;2104574;2104576;2104578;2104580;5037552 D16S2581E;D8S2279;ECD00760;ECD02068;ECD03322;ECD03682;ECD05311;ECD08202;ECD10574;ECD11496;ECD11673;REN95321;REN95322;REN95323;REN95324;REN95325;REN95326;REN95327;REN95328;REN95329;REN95330;REN95331;REN95332;REN95333;REN95334;REN95335;REN95336;REN95337;REN95338;REN95339;REN95340;REN95341;REN95342;REN95343;REN95344;REN95345;REN95346;REN95347;REN95348;REN95349;REN95350;REN95351;REN95352;REN95353;REN95354;REN95355;REN95356;REN95357;REN95358;REN95359;REN95360;RH98690;stSG608991;stSG608992;stSG608993;stSG608994;stSG608995;stSG608996 RS11 OTTHUMP00000067354;OTTHUMP00000067355;OTTHUMP00000067356;regulator of G-protein signaling 11;regulator of G-protein signalling 11 APPROVED protein-coding ENSG00000076344 9993 04872 603895 REVIEWED 737086 RGS10 regulator of G-protein signaling 10 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q25 121249329 121292212 - 121259339 121302222 - 1580863;6480464 17353931;17881498;16511171;16341674;15482592;12477932;12062898;11955952;11443111;10791963;10747990;10608901;9353196;9207071;8774883;20627871;15215290;16385451;20468064;21044322;16712791;21832049;20816714;21705617;22210881;23093381;21890473;21906983;18029348 6001 O43665 ABBA01062897;ABBA01062898;AC012468;AF045229;AF368902;AF493934;AI219612;AK290773;AL355273;AL547312;AL592286;AMYH01003114;AV707839;BC009361;BF685740;BG763741;BM782346;BM914660;CB112318;CB124184;CH471066;CR457008;NM_001005339;NM_002925 AAC03783;AAH09361;AAK52979;AAM12648;ADZ15814;BAF83462;CAG33289;EAW49389;EAW49390;EAW49391;NP_001005339;NP_002916;O43665 Hs.501200 1755689;2108425;2145229;2147276 RGS10_8168;SHGC-142529;SHGC-33199;WI-15787 OTTHUMP00000020597;OTTHUMP00000020598;regulator of G-protein signaling 10;regulator of G-protein signalling 10 APPROVED protein-coding ENSG00000148908 9992 04172 602856 REVIEWED 1319366 RGR retinal G protein coupled receptor This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 q23 85994789 86008924 + 86004809 86018944 + 1580863;1599623;6480464;7240710 10581022 17286855;8641686;16189514;18474598;17679941;16737970;15489334;12843338;12573668;12542842;12477932;11723126;11274198;7947717;7789419;20591486;16385451;18240029;19450444;20801516;21067480;21441953;20301590 5995 P47804;Q96HT6 ABBA01003756;AC022389;AMYH01002890;BC008094;BC011349;BC027987;BC042536;BG912392;BX641033;CH471142;DQ980610;NG_009106;NM_001012720;NM_001012722;NM_002921;U14910;U15790 AAA56748;AAB92384;AAH08094;AAH11349;ABM83000;ABM86193;EAW80354;EAW80355;EAW80356;EAW80357;EAW80358;NP_001012738;NP_001012740;NP_002912;P47804 Hs.1544 1341589;1777594;1777596;2130914 D10S1774;RH70572;STS-U14910;WI-18987 RP44 OTTHUMP00000019996;RGR-opsin;RPE retinal G-protein coupled receptor;RPE-retinal G protein-coupled receptor APPROVED protein-coding 9990 02642 600342;613769 REVIEWED 5129393 RGS17P1 regulator of G-protein signaling 17 pseudogene 1 13 13 13 q14.11 22624318 22624913 - 40464872 40472094 - 41566872 41567467 - 100128628 ABBA01021283;AL157877;AMYH01005060;NG_011456 pseudo 39729 INFERRED 731521 RGS12 regulator of G-protein signaling 12 This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] 4 4 p16.3 3285672 3411438 + 3315874 3441640 + 6480464;7207227 12239094 9651375;10869340;17042716;15324660;12477932;12461749;12024043;11829488;11771424;11387333;11130074;10911908;9168931;8889548;21145461;20627871;17124247;17380122;19851296;20198315;21822266;17370265 6002 B7Z764;E9PBG5;O14924;Q8WX95 ABBA01029469;ABBA01029470;ABBA01029471;ABBA01029472;ABBA01029473;AF030109;AF030110;AF030111;AF030112;AF030149;AF035152;AF464735;AF464736;AF464737;AI870015;AK123325;AK290805;AK293767;AK301510;AK303135;AK308734;AK310999;AL590235;AL645949;AMYH01013889;AMYH01013890;AY987042;BC012118;BC028154;BC106944;BC118594;BE048490;BI861043;BM718427;BM984992;CB242608;CB529269;CH471131;NG_029903;NM_002926;NM_198227;NM_198229 AAB84007;AAB84114;AAB84186;AAB84187;AAB96644;AAB96645;AAB96646;AAC39835;AAH28154;AAI06945;AAI18595;AAI67850;AAL69959;AAL69960;AAL69961;AAY26403;BAF83494;BAG53889;BAH11592;BAH13500;BAH13904;EAW82465;EAW82466;EAW82467;EAW82468;EAW82469;EAW82470;EAW82471;EAW82472;NP_002917;NP_937870;NP_937872;O14924 Hs.527061 1337448;1341533;1672697;1683375;1772653;2125355;2161707;5015861;5016897;5022200;5109281;5123849;7187410 D10S16;D1S1425;D4S3034;D4S412;D4S523;D4S835;G01857;L18426;RH92254;SHGC-67292;WI-11720;WI-15158 DKFZp761K1617;DKFZp761K1817 OTTHUMP00000115311;OTTHUMP00000115312;OTTHUMP00000151172;regulator of G-protein signaling 12;regulator of G-protein signalling 12 APPROVED protein-coding ENSG00000159788 9994 03943 602512 REVIEWED 735445 RGS1 regulator of G-protein signaling 1 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] 1 1 q31 190811480 190815782 + 192544857 192549159 + 69961;1580863;6480464 8602223 10747990;8241276;10480894;19073967;18805825;18580492;18311140;18301890;16710414;16565322;15728464;15489334;14702039;12477932;11520900;11251075;10760272;9774420;9174164;8473738;16169070;21833088;19913121;20627871;20628086;20647273;20555355;15215290;19693089;19865102;19877080;19879194;20083228;20190752;20468064;21832049;20171186;21795595 5996 Q08116 AA962409;ABBA01027644;AF493925;AK093544;AK303138;AK315607;AL039059;AL136987;AMYH01001589;BC015510;BG536972;BT006668;BU783195;CH471067;NM_002922;X73427 AAH15510;AAM12639;AAP35314;ABM81577;ABM84757;BAG37976;BAG64242;CAA51826;EAW91226;EAW91227;EAW91228;NP_002913;Q08116 Hs.75256 1674007;1675222;1796674;5014567 D1S3256;RGS1_1489;RH11447;WI-14327 1R20;BL34;IER1;IR20 B-cell activation protein BL34;OTTHUMP00000033591;early response protein 1R20;immediate-early response 1, B-cell specific;regulator of G-protein signaling 1;regulator of G-protein signalling 1 APPROVED protein-coding ENSG00000090104 9991 15968 600323 REVIEWED 1604849 RGS13 regulator of G-protein signaling 13 The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [provided by RefSeq, Jul 2008] 1 1 1 q31.2 165715071 165739113 + 190871905 190896013 + 192605268 192629441 + 6480464 19017978;16710414;16565322;15489334;12970790;12477932;11875076;11829488;8602223;20627871;20468064;20974683;21531726 6003 O14921 ABBA01027643;AF030107;AF493935;AL136454;AL596119;AMYH01001591;AY562947;BC016667;BC036950;BC056866;BT006929;BU942880;CH471067;CR536532;NM_002927;NM_144766 AAB84000;AAH16667;AAH56866;AAM12649;AAP35575;AAS66360;ABM84747;ABM92258;ABM92259;ABW03620;CAG38769;EAW91229;EAW91230;NP_002918;NP_658912;O14921 Hs.497220 1665219;1685830;1798082 RGS13_2430;RH98634;SHGC-76069 MGC17173 OTTHUMP00000033593;regulator of G-protein signaling 13;regulator of G-protein signalling 13 APPROVED protein-coding ENSG00000127074 9995 06222 607190 REVIEWED 1343291 RGS16 regulator of G-protein signaling 16 The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008] 1 1 q25-q31 180834381 180840171 - 182567758 182573548 - 1580863;6480464 10747990;9469939;18262772;17635928;17613536;17347170;16344560;15998835;15489334;14634662;12642593;12642592;12588871;12477932;11602604;11522288;10878019;10836135;10791963;10760272;10373502;10072511;9271201;9223279;9079700;8917514;20571966;20627871;15215290;18521847;19509421;19760045;21135262;21988832;23354309 6004 O15492 ABBA01027763;AF009356;AF493937;AK301261;AK311880;AL353778;AMYH01001549;AW193671;BC006243;BT006638;CH471067;DA060276;DC349953;HI574082;NM_002928;U70426;U94829 AAC16912;AAC39642;AAC52040;AAH06243;AAM12651;AAP35284;BAG34821;BAG62827;CBX47530;EAW91129;NP_002919;O15492 Hs.413297 1679257;1796670;2136116;5126237 RGS16_778;RH70699;RH98871;SHGC-76000 A28-RGS14;A28-RGS14P;RGS-R OTTHUMP00000033147;hRGS-r;regulator of G-protein signaling 16;regulator of G-protein signalling 16;retinal-specific RGS;retinally abundant regulator of G-protein signaling APPROVED protein-coding ENSG00000143333 9997 03945 602514 REVIEWED 1353958 RGS21 regulator of G-protein signaling 21 Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 2008] 1 1 1 q31.1 165395907 165446198 + 190552745 190603038 + 192286122 192336415 + 16302027;15066150;22763476;23095746 431704 Q2M5E4 ABBA01027646;AL357566;AL390957;AMYH01001589;AY643711;NM_001039152 AAI48463;AAI53060;AAT64913;NP_001034241;Q2M5E4 Hs.558673 1715793;2173566 AL009714;RH119345 OTTHUMP00000225020;regulator of G-protein signaling 21;regulator of G-protein signalling 21 APPROVED protein-coding ENSG00000253148 26839 612407 VALIDATED 1313587 RGS17 regulator of G-protein signaling 17 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] 6 6 6 q25.3 154065698 154186885 - 153373719 153494082 - 153332026 153452389 - 1580863;6480464 19351763;19244110;18676680;15489334;15096504;14992813;14574404;12826607;12477932;11829488;10419452;21044322;20420807;19170196;19625176;19692168;20306291;20379614;20453000;22006218;23088713;21620966;21139048;22591552 26575 Q9UGC6 AA902430;ABBA01025611;ABBA01025612;ABBA01025613;ABBA01025614;AF202257;AF493938;AL080276;AL356787;AL356963;AMYH01016750;AMYH01016751;BC013117;BT006997;CH471051;CK902282;CS300704;NM_012419 AAF08978;AAH13117;AAM12652;AAP35643;CAK32368;EAW47711;NP_036551;Q9UGC6 Hs.166313 1703728;2107549 RGS17_3211.2;SHGC-78907 RGS-17;RGSZ2;hRGS17 OTTHUMP00000017460;regulator of G-protein signaling 17 APPROVED protein-coding ENSG00000091844 14088 06223 607191 REVIEWED 733515 RGS14 regulator of G-protein signaling 14 This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 5 5 q35.3 176717450 176732205 + 176784844 176799599 + 1580863;6480464 20842066;9168931;16189514;15917656;15525537;15489334;14702039;12534294;12477932;11976690;11829488;11387333;10953050;10926822;22807448;22797727;20627871;19636837;19878719;20383146;17635935;21832049;21880739;17603074;19899154;21044950;21833088;22396660;22379092;22703881;18029348;21988832;23128233 10636 H0Y8W3;O43566 ABBA01033457;AC146507;AF037194;AF037195;AF493936;AI623584;AK098150;AK123382;AMYH01015873;AMYH01015874;AY987041;BC014094;BI752372;CH471195;NM_006480 AAB92613;AAB92614;AAH14094;AAM12650;AAY26402;ADZ15921;BAC85600;BAG53582;EAW85011;EAW85012;EAW85013;NP_006471;O43566 Hs.9347 2120555;2217906 D5S1624E;RGS14_3061 OTTHUMP00000223586;OTTHUMP00000223587;regulator of G-protein signaling 14;regulator of G-protein signalling 14 APPROVED protein-coding ENSG00000169220 9996 03944 602513 REVIEWED 1315187 RGS18 regulator of G-protein signaling 18 This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 1 1 1 q31.2 165237273 165264630 + 190394215 190421568 + 192127592 192154945 + 1580863;6480464 16710414;16484797;15489334;14992813;14702039;12665801;12477932;11955952;11829488;11563974;11342430;11042171;20627871;20379614;20468064;21832049;22234696;22210881 64407 Q9NS28 ABBA01027647;AF076642;AF268036;AK057114;AK292015;AK315377;AL513175;AL596342;AMYH01001589;AV715708;BC020632;CH471067;CS300612;NM_130782 AAF80227;AAH20632;AAK58589;ABM82319;ABM85495;BAF84704;BAG37770;BAG51866;CAK32276;EAW91223;NP_570138;Q9NS28 Hs.440890 1717967;1750447;1796672;5492174 RGS18_780;RH122810;Rgs16;SHGC-111760 RGS13 OTTHUMP00000033590;regulator of G-protein signaling 18;regulator of G-protein signalling 13;regulator of G-protein signalling 18 APPROVED protein-coding ENSG00000150681 14261 06224 607192 REVIEWED 1353904 RGS19 regulator of G-protein signaling 19 G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.33 62174978 62181768 - 62704534 62711324 - 1580863;6480464 9770488;8524874;9571244;18360038;15761153;15489334;15356268;12826607;12507475;12477932;11956658;11829488;11780052;11251075;11090272;10993892;10760275;10760272;10452897;10364213;10359779;9748280;9305927;8986788;10906137;14617818;20468064;21705135;22045062;21900206;21139048;21906983 10287 P49795;Q9H2T9 ABBA01021439;AF217688;AF285096;AF285097;AF493939;AK290081;AK298240;AL590548;AMYH01012097;AMYH01012098;AY585188;BC001318;BC054337;BC063010;BM554550;BT009804;CH471077;CR457430;NM_001039467;NM_005873;X91809 AAG42352;AAH01318;AAH54337;AAH63010;AAM12653;AAP88806;AAS94232;ABM82130;ABM85313;BAF82770;BAG60506;CAA62919;CAG33711;EAW75166;EAW75167;NP_001034556;NP_005864;P49795 Hs.422336 1683144;1798084;5113067 RGS19_2465;RH38937;RH39038 GAIP;RGSGAIP G alpha interacting protein;G protein signalling regulator 19;G-alpha-interacting protein;OTTHUMP00000031632;guanine nucleotide binding protein alpha inhibiting activity polypeptide 3 interacting protein;regulator of G-protein signaling 19;regulator of G-protein signalling 19 APPROVED protein-coding ENSG00000171700 13735 05461 605071 REVIEWED 732360 RGS2 regulator of G-protein signaling 2, 24kDa Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009] 1 1 q31 191044794 191048026 + 192778169 192781407 + 1580863;5133418;6480464;7207227 12588881;12239094 11330340;21500190;17143182;16895908;16736243;16710414;16691626;16685212;16627589;16449965;16432041;16189514;16169070;16003176;15917235;15793568;15609325;15536149;15489334;15383626;15375002;15362969;15292363;14608379;12885252;12604604;12564955;12477932;12356577;12176127;10747990;19427970;19243996;19175184;19162436;19156702;19155782;19064631;19023274;18833580;18663369;18496125;18398336;18360038;18347610;18316676;18262772;18249218;18230714;18067675;17901199;17728697;17558307;17294519;17244887;17220356;11063746;10982407;10791963;10760272;10072511;9794454;9405622;9174164;8673468;8602223;8179820;7643615;1702972;9079700;17353931;11278586;20633139;19913121;20627871;20628086;20628624;20662725;20375904;20847599;20981351;21041608;19478087;19626040;19778949;19813112;19931593;19948975;20032508;20140863;20453000;20468064;20001967;20403096;21451528;21529451;22704538;22695717;21291998;21438143;21779398;22080612;21900206;22057271;21988832;23339167;23349832 5997 P41220;Q49A86 ABBA01027642;AF493926;AK313668;AL035407;AMYH01001591;AY971351;BC007049;BC042755;BC044742;BI912389;BT007065;CD700013;CH471067;CR457410;L13391;L13463;NG_012800;NM_002923 AAA20680;AAC37587;AAH07049;AAH42755;AAM12640;AAP35728;AAY40361;ABM84104;ABM87477;BAG36420;CAG33691;EAW91231;EAW91232;NP_002914;P41220 Hs.78944 1701654;1712130;1773505;1793540;1796678;2138647;2162655;5118077 D1S2392;G54115;GDB:683288;PMC229255P4;RGS2_386;RH104484;RH69011;SHGC-76063 G0S8 G0 to G1 switch regulatory 8, 24kD;G0/G1 switch regulatory protein 8;OTTHUMP00000033592;cell growth-inhibiting gene 31 protein;cell growth-inhibiting protein 31;regulator of G-protein signaling 2;regulator of g-protein signaling protein 2 APPROVED protein-coding ENSG00000116741 9998 02917 600861 REVIEWED 1312560 RGS20 regulator of G-protein signaling 20 The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 8 8 q11.23 54926921 55034416 + 54764368 54871863 + 1580863;6480464 9748279;17353931;18360038;17126529;15489334;14872136;14702039;12826607;12477932;12414994;12379657;11882662;11829488;11735229;9748280;15488169;17474147;18407463;20627871 8601 B3KSW4;E5RGA3;E5RH54;H9NIM5;O76081 ABBA01041726;ABBA01041727;ABBA01041728;ABBA01041729;ABBA01041730;ABBA01041731;ABBA01041732;AC100821;AC113194;AF060877;AF074979;AF366054;AF366055;AF366056;AF366057;AF493940;AK094503;AMYH01018723;AY046538;BC015614;BC018618;BC031328;BC063490;CH471068;JQ308180;NM_003702;NM_170587 AAC62009;AAC62013;AAH15614;AAH63490;AAK54122;AAK54123;AAK54124;AAK54125;AAL03971;AAM12654;ADR82691;AFF59490;BAG52876;EAW86734;EAW86735;EAW86736;EAW86737;EAW86738;NP_003693;NP_733466;O76081 Hs.741492 1338233;1698596;1722937;1758421;1796676;2157788 D8S1737;G60566;RGS20_782;RH102850;RH45828;SHGC-148290 RGSZ1;ZGAP1 OTTHUMP00000227381;OTTHUMP00000227383;OTTHUMP00000227397;g(z)GAP;gz-GAP;gz-selective GTPase-activating protein;regulator of G-protein signaling 20;regulator of G-protein signaling 20 variant 2;regulator of G-protein signaling Z1;regulator of G-protein signalling 20;regulator of Gz-selective protein signaling 1 APPROVED protein-coding ENSG00000147509 14600 06225 607193 VALIDATED 1606803 RGS22 regulator of G-protein signaling 22 8 8 8 q22.2 97158760 97303753 - 101042452 101187520 - 100973276 101118344 - 6480464 18703424;15489334;14702039;12477932;20627871;20379614;21533872 26166 A8K944;E5RFV6;E5RGJ7;E5RHE4;E5RJ23;G3V112;H0YBV2;Q8NE09 ABBA01037561;ABBA01037562;AC021590;AK097399;AK292559;AK302475;AK309194;AL117544;AMYH01018924;AMYH01018925;AP005356;AY009106;BC036665;BC047060;BC050053;BC092411;CH471060;NM_015668 AAG49397;AAH36665;AAH47060;AAH92411;BAF85248;BAG53465;BAG63763;CAB55986;EAW91794;EAW91795;EAW91796;EAW91797;NP_056483;Q8NE09 Hs.120021 DKFZp434I092;FLJ40080;FLJ75004;MGC102908;PRTD-NY2 OTTHUMP00000227557;OTTHUMP00000227558;OTTHUMP00000227559;regulator of G-protein signaling 22 protein-coding ENSG00000132554 24499 13155 VALIDATED 70082 RGS4 regulator of G-protein signaling 4 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q23.3 161305285 161313216 + 163038396 163046592 + 69961;1580863;6480464;7207227 8602223;12239094 17006672;16905560;16904822;16860780;16791139;16710414;16631129;16604300;16526029;16508931;16380905;16344560;16246308;16176390;16082709;15660667;15489334;15383626;15381923;15369705;15274033;15182322;14755443;14732600;14702039;12920194;12840049;12642592;12564955;12477932;12436019;12422374;12023979;11904384;11507164;11428836;11297424;11148035;10982407;10869340;10791963;10784452;10767329;10685342;10608901;10387017;9754621;9748280;9674973;9660808;9576926;9405622;8756726;14634662;10747990;19367581;19324084;19282471;19201815;19041089;18834502;18804346;18622782;18584117;18470533;18443239;18434012;18262772;18204343;18198266;18031991;17722013;17707117;17588543;17515439;17410640;17408693;17301167;17220356;17106420;17092693;17055463;19913121;20627871;20628086;20712983;21041608;20630860;17185339;22753418;18583979;19059885;19416973;19536175;19549919;19937977;20414142;20430014;21209077;21674833;20816714;23093381;22253691;21910931;22157635;23630294 5999 E9PR32;E9PS05;P49798 AB209019;ABBA01047300;AF493928;AK093959;AK096204;AK295540;AK296240;AK300832;AK312250;AL137433;AL583850;AMYH01001465;AMYH01001466;BC000737;BC051869;BI547160;BT007025;CH471067;DA253378;DA660018;DA660695;DC318279;DC334933;DQ346662;DQ346663;DQ346664;EF054877;NG_023312;NM_001102445;NM_001113380;NM_001113381;NM_005613;U27768 AAC50395;AAH00737;AAH51869;AAM12642;AAP35671;ABC94590;ABC94591;ABC94592;ABL74968;BAD92256;BAG35182;BAG58449;BAG58958;BAG62483;EAW90727;EAW90728;EAW90729;NP_001095915;NP_001106851;NP_001106852;NP_005604;P49798 Hs.386726 1298129;1299889;1331565;1331568;1336310;1338626;1338728;1341627;1341913;1342100;1643814;1653512;1664990;1666721;1796682;2149361;2166053;5015520;5097205 A003B46;AA004315;D1S1599;D1S1622;D1S1631;D1S1653;D1S1656;D1S1677;D1S1679;D1S196;D1S3723;D1S534;D1S551;G29255;HSC1YC112;IB1262;RGS4_784;RH12512;SHGC-32116 DKFZp761F1924;MGC2124;MGC60244;RGP4;SCZD9 OTTHUMP00000032322;OTTHUMP00000032323;OTTHUMP00000032324;OTTHUMP00000228806;OTTHUMP00000228807;OTTHUMP00000228931;OTTHUMP00000228932;regulator of G-protein signaling 4;regulator of G-protein signalling 4;regulator of g protein signaling 4;schizophrenia disorder 9 APPROVED protein-coding ENSG00000117152 10000 03947 602516 REVIEWED 736970 RGS6 regulator of G-protein signaling 6 This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011] 14 14 q24.3 71469539 72102991 + 72398817 73033238 + 1580863;6480464 10083744;18676680;16691626;15375002;14734556;14702039;12761221;12761220;12477932;12140291;10521509;10339615;7596406;19170196;19625176;19692168;19834535;20379614;20453000;20811658;21300955;21041304;21233807;21935397;22566634 9628 B7Z2A0;B7Z2N1;B7Z7N5;Q2M3K2;Q7Z4K3;Q7Z4K4;Q7Z4K5;Q7Z4K6;Q9Y647 AB209462;ABBA01030786;ABBA01030787;ABBA01030788;ABBA01030789;AC004828;AC005157;AC005226;AC005227;AC005477;AC005533;AC005857;AC005993;AF073920;AF073921;AF107619;AF107620;AF156932;AF465726;AF465727;AK125540;AK294486;AK294895;AK302319;AK310463;AK313481;AMYH01005836;AMYH01005837;AMYH01005838;AY309097;AY309098;AY309099;AY309100;BC104877;BC113572;BC143699;BX096120;BX537512;CH471061;DC343081;L40394;NG_029236;NM_001204416;NM_001204417;NM_001204418;NM_001204419;NM_001204420;NM_001204421;NM_001204422;NM_001204423;NM_001204424;NM_004296 AAC26049;AAC26050;AAC42001;AAC83180;AAD05031;AAD34717;AAD34718;AAD40183;AAI04878;AAI13573;AAM03004;AAM03005;AAM03006;AAM03007;AAM03008;AAM03009;AAM03010;AAM03011;AAM03012;AAM03013;AAP74386;AAP74387;AAP74388;AAP74389;ADR83192;BAD92699;BAG36265;BAH11786;BAH11917;BAH13671;EAW81062;EAW81063;EAW81064;EAW81065;EAW81066;EAW81067;EAW81068;EAW81069;EAW81070;EAW81071;NP_001191345;NP_001191346;NP_001191347;NP_001191348;NP_001191349;NP_001191350;NP_001191351;NP_001191352;NP_001191353;NP_004287;P49758 Hs.509872 1341506;1647451;1650128;1651005;1662752;1664807;1667892;1668374;1668445;1671067;1671183;1672883;1674658;1679678;1688753;1696752;1701228;1704048;1706328;1714599;1716621;1722073;1738937;1740703;1740705;1745889;1753529;1759129;1773782;1775074;1796686;1852035;1858010;2112146;2119755;2121587;2128412;2132059;2135926;2136468;2143103;2144685;2145327;2146869;2150292;2151934;2154847;2155333;2156369;2158265;2160716;2162204;2163388;2168151;2170002;2171259;2171717;2175326;2177880;2181809 A005E46;A047WF5;D12S831;D14S1181;D14S1182;D14S1371;D14S277;D14S787;D14S912;D9S1990;G31413;G35548;G35605;G35709;G36235;G38060;G38061;G38069;G38070;G38071;G38073;G38075;G38088;G38140;G38141;G38259;G38263;G38264;G38266;G38270;G38274;G38275;G38278;G38279;G38337;G60076;GDB:681455;RGS6_788;RH104242;RH119814;RH121567;RH15747;RH44624;RH45338;RH45686;RH66044;RH70438;RH76013;RH78916;RH93225;SHGC-107399;SHGC-151129;SHGC-34891;SHGC-37117;SHGC-52498;SHGC-77849;SHGC-77937;SHGC-80729;WI-11724;WI-18648 DKFZp313G1241;FLJ43552;GAP;MGC142132 G protein signaling 6 regulator;GTPase activating protein;H_DJ0283M22.1;H_DJ1108A12.1;OTTHUMP00000245839;OTTHUMP00000245840;OTTHUMP00000245841;OTTHUMP00000245842;OTTHUMP00000245843;OTTHUMP00000245844;OTTHUMP00000245845;OTTHUMP00000245846;OTTHUMP00000245847;OTTHUMP00000245848;OTTHUMP00000245849;S914;WUGSC:H_DJ0283M22.1;WUGSC:H_DJ1108A12.1;regulator of G protein signaling 6;regulator of G protein signalling 6;regulator of G-protein signaling 6;regulator of G-protein signalling 6 APPROVED protein-coding ENSG00000182732 10002 603894 REVIEWED 1601793 RGS9BP regulator of G protein signaling 9 binding protein The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010] 19 19 19 q13.11 29859945 29862839 + 37858153 37861046 + 33166313 33169206 + 6480464;6893539;7240710 22074925 18318613;17698770;14702087;12560335;12119397;8889548;19818506;19948975;21511947;23377640 388531 Q6ZS82 ABBA01039599;AC008474;AF086461;AK124499;AK127646;AMYH01009696;NG_016751;NM_207391 AAI72343;BAC85865;BAC87072;NP_997274;Q6ZS82 Hs.528491 2121903;5015961;5022651 D11S2921;D15S1477;SHGC-57769 FLJ45744;PERRS;R9AP;RGS9 RGS9 anchor protein;RGS9-anchoring protein;regulator of G-protein signaling 9-binding protein APPROVED protein-coding ENSG00000186326 30304 16991 607814;608415 REVIEWED 1604905 RGS7BP regulator of G-protein signaling 7 binding protein This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] 5 5 5 q12.3 60799299 60904990 + 63838208 63943882 + 63802452 63908126 + 6480464 16867977;15632198;12477932;19497306;20379614;21457877;21511947;19042037 401190 B4DKB7;B7Z3X1;Q6MZT1 ABBA01048339;ABBA01048340;AC008854;AC035143;AC091862;AK294808;AK296443;AK296494;AMYH01015129;AMYH01015130;BC140707;BX640900;CH471137;DA211241;DA404068;DA417118;DC342795;NM_001029875;NM_001271890;NM_001271891;NR_073511 AAI40708;BAG57927;BAG59129;BAH12357;CAE45947;EAW51372;NP_001025046;NP_001258819;NP_001258820;Q6MZT1 Hs.657133 1659014;1671400;1701194;2111081;2138105;2141032;2156040;5015348 AFMA053ZG9;BCD1181;D5S1630E;D5S2470;D5S567E;GDB:1317910;RH104225;SGC30694 R7BP OTTHUMP00000221855;R7 binding protein;R7 family-binding protein;regulator of G-protein signaling 7-binding protein;regulator of G-protein signalling 7 binding protein protein-coding ENSG00000186479 23271 610890 REVIEWED 733586 RGS7 regulator of G-protein signaling 7 1 1 q43 239005440 239587101 - 240938817 241520478 - 69958;1580863;6480464 8548815 17474147;19376773;18762858;18029348;16867977;16710414;16344560;15496508;14718574;12670932;12659861;12477932;12077120;11152459;11032900;10862767;10521509;10339615;10339594;10092682;10051672;9572280;19913121;20627871;20628086;19182865;19626040;20379614;21343290;9789084;22939624;23251661 6000 B7Z223;B7Z257;P49802;Q5T3H5 ABBA01033239;ABBA01033240;ABBA01033241;ABBA01033242;ABBA01033243;ABBA01033244;ABBA01033245;ABBA01033246;ABBA01033247;ABBA01033248;AF090116;AF090117;AF493930;AF493931;AK294234;AK294354;AK314862;AL359764;AL365184;AL512307;AL590682;AL592076;AL596082;AMYH01001875;AY587875;BC022009;CH471098;DA605226;DB542821;NM_002924;U32439 AAC50351;AAD34290;AAD34291;AAH22009;AAM12644;AAM12645;AAT52231;ABM81720;ABM84875;ABM84880;BAH11709;BAH11743;EAW70086;EAW70087;EAW70088;EAW70089;NP_002915;P49802 Hs.655739 1335710;1649093;1651229;1667438;1693096;1696156;1696552;1718281;1724629;1724809;1755009;1761835;1763023;1764213;1767226;1769792;1781422;1796688;2122930;2134277;2137603;2144894;2153403;2166400;2174055;2180432;5094134;7187949 151XB8;AL009703;AL009723;AL009760;AL010052;AL034269;D0S2243;D1S2168;D1S304;D1S3173;G16321;G29229;G34863;G54565;RGS7_1815;RH121313;RH122912;RH123664;SHGC-111443;SHGC-141957;SHGC-145787;SHGC-146769;SHGC-147849;SHGC-30220;SHGC-32119;SHGC-78151;SHGC-79137 OTTHUMP00000037994;OTTHUMP00000037995;OTTHUMP00000037996;OTTHUMP00000038316;regulator of G-protein signaling 7;regulator of G-protein signaling RGS7;regulator of G-protein signalling 7 protein-coding ENSG00000182901 10003 03948 602517 VALIDATED 1353853 RGSL2 regulator of G-protein signaling like 2 1 q25.3 180685915 180724506 + 1302836;1580863 12801632 12651916;11230166 84227 AL136902;AL139344;CH471067;DB452397;NM_032267 CAB66836;EAW91125;EAW91126;EAW91127;NP_115643;Q9H084 Hs.558567 DKFZp434E169 protein-coding 18635 17972 730866 RGS5 regulator of G-protein signaling 5 This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011] 1 1 q23.1 161378716 161439496 - 163112089 163291581 - 1580863;6480464;7240710;7207228 21393447 10471929;18029348;18676680;18262772;17939118;17762159;17220356;17100651;16710414;16381901;16344560;16293795;15670159;15489336;15489334;15459006;14755443;12477932;11253162;11230166;11076863;11009569;9747037;9079700;20627871;20643937;19170196;19488044;19536175;19564336;19625176;19692168;19863299;20379614;20453000;21832049;21278382;21105200;21780128;21881522;22130514;15342556 8490 B1APM2;E9PS96;O15539 AA486366;AA805263;AA974387;AB008109;ABBA01047300;AF030108;AF113212;AF159570;AF172821;AF173551;AF176919;AF493929;AJ891044;AK026775;AK315357;AL157502;AL451063;AL499616;AL583850;AL592435;AL600981;AMYH01001466;AU130764;BC029357;BC030059;BC032239;BP292867;BU172751;BU187973;BX537427;CB991106;CH471067;DA699380;DA731601;NG_027731;NM_001195303;NM_001254748;NM_001254749;NM_003617;NR_045630 AAB84001;AAD40957;AAG39283;AAH30059;AAM12643;AAQ13615;AAQ13619;AAQ13663;ABM83064;ABM86258;BAA22889;BAG37752;CAD97669;CAI76926;CAL38745;EAW90730;EAW90731;EAW90732;NP_001182232;NP_001241677;NP_001241678;NP_003608;O15539 Hs.24950;Hs.677623 1653033;1698660;1787848;1796684;1846787;2113656;2139725 RGS5;RGS5_786;RH102889;RH64669;RH69538;SHGC-132622;SHGC-36663 MST092;MST106;MST129;MSTP032;MSTP092;MSTP106;MSTP129 OTTHUMP00000032361;OTTHUMP00000232302;OTTHUMP00000232303;regulator of G-protein signaling 5;regulator of G-protein signalling 5 APPROVED protein-coding ENSG00000143248;ENSG00000232995 10001 04471 145500;603276 REVIEWED 731031 RGS3 regulator of G-protein signaling 3 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013] 9 9 q32 115246832 115399839 + 116207011 116360018 + 69961;1580863;6480464;6484113 8602223 12210723;12036301;11985497;11330340;11301003;11294858;11034339;10749886;9344672;8125298;9858594;18287247;17300916;16855219;16821082;15489334;15383626;15164053;14702039;12477932;20347994;19913121;20627871;20628086;10862767;12198596;15231748;15458844;16637659;16884686;19333232;19778949;22859293;17620599;19953087;21139048;21903422;21906983;22027839;21044950;19136943;21681376;21832049;21918105;22699066;8889548;9182581;15342556;16344560 5998 B3KUB2;B3KVT7;B3KWG8;C9J582;C9J6G2;H7BXY1;H7C539;Q53GP3;Q5VXC0;Q8IUQ1;Q8NFN6 ABBA01042681;ABBA01042682;ABBA01042683;ABBA01042684;AF006609;AF006610;AF463495;AF490838;AF490839;AF490840;AF493927;AF493941;AK000377;AK054584;AK074977;AK096840;AK123387;AK125059;AK125094;AK128127;AK222888;AK226153;AK289666;AK301515;AK310705;AL137066;AL162727;AL359455;AMYH01021669;AY585192;BC018072;BC019039;BC042555;BE256545;BE298009;BM690084;BP257809;CH471090;DA396065;DA680346;DA875652;DB031297;FJ423754;NG_029512;NM_001276260;NM_001276261;NM_001276262;NM_017790;NM_021106;NM_130795;NM_134427;NM_144488;NM_144489;NR_074077;NR_074078;U27655 AAB62725;AAC50394;AAH18072;AAH19039;AAH42555;AAL68829;AAM12641;AAM12655;AAM33253;AAM33254;AAM33255;AAT79495;BAA91125;BAB70766;BAC11328;BAC86049;BAC87285;BAD96608;BAF82355;BAG53374;BAG53899;BAG54130;BAG63021;EAW87387;EAW87388;EAW87389;EAW87390;EAW87391;EAW87392;EAW87393;EAW87394;EAW87395;EAW87396;EAW87397;EAW87398;NP_001263189;NP_001263190;NP_001263191;NP_060260;NP_066929;NP_570613;NP_602299;NP_652759;NP_652760;P49796 Hs.494875 1339732;1658348;1669767;1677464;1708806;1766279;1766523;1787052;1796680;1855334;2115398;2124518;2132173;2144323;2149779;2168087;2191813;5092336;7186694 A002B06;D9S106;D9S1152;D9S279;G42195;MARC_8225-8226:996688427:1;RGS3_1429;RH36572;RH45468;RH80823;SHGC-149632;SHGC-149841;SHGC-154031;SHGC-24301;SHGC-81067;STS-M78362;STS-W94230;WI-14933 C2PA;FLJ20370;FLJ31516;FLJ90496;PDZ-RGS3;RGP3 OTTHUMP00000022812;OTTHUMP00000022813;OTTHUMP00000022814;OTTHUMP00000022815;OTTHUMP00000215341;OTTHUMP00000215342;OTTHUMP00000233952;regulator of G-protein signaling 3;regulator of G-protein signalling 3 APPROVED protein-coding ENSG00000138835 9999 03720 602189 REVIEWED 737105 RGS8 regulator of G-protein signaling 8 This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008] 1 1 q25 180882415 180908690 - 182615792 182642067 - 1580863;6480464 18834863;18262772;16710414;15677457;15506959;15489334;15488175;14992813;14675160;12477932;12110731;11829488;11329013;11318611;20627871;21135262;17207965;20379614 85397 D6RD36;P57771 ABBA01027762;AF297014;AF297015;AF300649;AK294660;AK296514;AL353778;AMYH01001549;BC069677;BC069718;BC103865;BC103866;BC103867;BG195915;BX281622;CH471067;NM_001102450;NM_033345 AAG18443;AAG45337;AAH69677;AAH69718;AAI03866;AAI03867;AAI03868;ADQ32868;BAG57830;BAG59146;EAW91130;EAW91131;NP_001095920;NP_203131;P57771 Hs.20982;Hs.458417 1735418;1769503;1771804;2134126;2185944 AL009436;AL009444;D1S1861E;SHGC-75974;SHGC-76017 MGC119067;MGC119068;MGC119069 OTTHUMP00000033156;OTTHUMP00000217395;OTTHUMP00000217396;OTTHUMP00000217398;regulator of G-protein signaling 8;regulator of G-protein signalling 8 APPROVED protein-coding ENSG00000135824 16810 06221 607189 REVIEWED 732260 RGS9 regulator of G-protein signaling 9 This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 17 17 q24 60564011 60654283 + 63133456 63223821 + 69964;1580863;1599999;6480464;6893539;6907045;7240710 9765512;14702087;22074925 19156168;18548510;17698770;15901556;15474482;14614075;12477932;12119397;11485301;10564809;9560279;8889548;16867977;20374717;20477943;19818506;19948975;20016399;20379614;20627871;21511947;22006018;22132185;22505724 8787 A8K1G1;E9PD91;J3QL70;O75916 ABBA01029050;AC015821;AC060771;AF071476;AF073710;AF178070;AF178072;AF493932;AF493933;AK289876;AK290535;AK301719;AK309061;AMYH01008570;AY585190;AY585191;BC022504;BC096843;BC117271;CD105605;CH471099;CK300804;DC322215;NG_013021;NM_001081955;NM_001165933;NM_003835 AAC25430;AAC64040;AAG09311;AAG09312;AAH22504;AAH96843;AAM12646;AAM12647;AAT79493;AAT79494;BAF82565;BAF83224;BAG63190;EAW88997;EAW88998;EAW88999;EAW89000;EAW89001;EAW89002;NP_001075424;NP_001159405;NP_003826;O75916 Hs.664380 1680457;1717017;2127059 D17S1695;RH124037;RH99108 MGC111763;MGC26458;PERRS;RGS9L regulator of G-protein signaling 9;regulator of G-protein signalling 9 APPROVED protein-coding ENSG00000108370 10004 04962 604067;608415 REVIEWED 7174873 RHBDF1P1 rhomboid 5 homolog 1 (Drosophila) pseudogene 1 3 p25.1 14614359 14616299 - 131973 ABBA01025157;AC090952;AMYH01012996;NG_022195 1652240;2046788;2167916 REN94523;RH17768;SHGC-57831 pseudo 44499 INFERRED 731598 RHAG Rh-associated glycoprotein The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009] 6 6 p12.3 49680847 49712546 - 49572888 49604587 - 1599622;1580863;6480464;7240710 10467273 15856280;15929723;12846905;12719424;16580865;16574458;1417776;11062476;19273840;18931342;17712059;16564724;16563829;16378686;16227429;15572441;14966114;12531814;12477932;12393442;12204676;12130520;11861637;10862620;9915949;9746795;9716608;9479501;9473510;9454778;9442063;8563755;3146980;16866382;21849667;21682734;22012326;21883272;23417980 6005 Q02094;Q96E98 AB036993;ABBA01050588;ABBA01050589;AF031548;AF031549;AF031550;AF031551;AF061325;AF178841;AF178842;AF178843;AF178844;AF179682;AF179683;AF179684;AF179685;AF179686;AF187847;AF237387;AK313505;AL121950;AL590244;AMYH01016339;BC012605;BU664154;CH471081;NG_011704;NM_000324;X64594 AAC04247;AAC04248;AAC04249;AAC04250;AAD34199;AAD54392;AAD56366;AAD56367;AAD56368;AAF04566;AAF23097;AAF23098;AAF23099;AAF23100;AAF23101;AAF78209;AAH12605;ABM83708;ABM87029;BAB00642;BAG36285;CAA45883;EAX04337;EAX04338;EAX04339;NP_000315;Q02094 Hs.120950 1653790;2132367;2155974;2185474 RH46855;SGC35426;STS-R96373;STS-X64594 CD241;RH2;RH50A;Rh50;Rh50GP;SLC42A1 OTTHUMP00000018001;Rhesus associated polypeptide, 50-KD;Rhesus blood group-associated glycoprotein;ammonium transporter Rh type A;erythrocyte membrane glycoprotein Rh50;erythrocyte plasma membrane 50 kDa glycoprotein;rh family type A glycoprotein;rh type A glycoprotein;rhesus blood group family type A glycoprotein;rhesus blood group-associated a glycoprotein;rhesus blood group-associated ammonia channel APPROVED protein-coding ENSG00000112077 10006 01582 180297;268150 REVIEWED 1353178 RGSL1 regulator of G-protein signaling like 1 1 1 1 q25 155530353 155640967 + 180685910 180796355 + 182419256 182529732 + 1302836 12801632 21145461;18521847;16710414;16344560;15489334;14702039;12651916;12477932;11230166;11181995;21135262;20574532 353299 H3BNQ0;H3BNR3;H3BNS3;H3BRN5;H3BU64;H3BVE8;Q9H084 ABBA01027763;ABBA01027764;ABBA01027765;AF508902;AF510428;AK128152;AK302768;AL136902;AL138776;AL139344;AMYH01001547;AMYH01001548;AMYH01001549;BC121032;BC121033;BC142944;CH471067;DB097250;NM_001137669 A5PLK6;AAI42945;AAP30864;BAC87300;BAH13800;CAB66836;EAW91125;EAW91126;EAW91127;NP_001131141 Hs.121200 5014051;5022200;5037552;5491711 D8S2278;D8S2279;L18426;RH124538 DKFZp434E169;RGSL;RGSL2 regulator of G-protein signaling like 2;regulator of G-protein signaling protein-like protein-coding ENSG00000121446 18636 17971 611012 VALIDATED 1323487 RHBDD3 rhomboid domain containing 3 22 22 22 q12.2 13455708 13463777 - 27985844 27993914 - 29655844 29663914 - 6480464 10591208;19212622;17117413;15489334;15461802;15105437;12529303;12477932;21555518;16196087;21906983 25807 B0QYJ1;B0QYJ2;F8WFA9;Q9Y3P4 ABBA01055260;AL031186;AL050346;AMYH01012695;BC002705;BC018872;CH471095;CR456411;CR457382;NM_012265 AAH02705;CAB43551;CAG30297;CAG33663;CAK54402;CAK54701;EAW59778;EAW59779;NP_036397;Q9Y3P4 Hs.106730 1699028 RH103087 C22orf3;HS984G1A;PTAG OTTHUMP00000199003;pituitary tumor apoptosis;rhomboid domain-containing protein 3 protein-coding ENSG00000100263 1308 12800 PROVISIONAL 1601951 RHBDD1 rhomboid domain containing 1 2 2 2 q36.3 221470201 221633451 + 227409017 227569836 + 227700671 227863926 + 6480464 22624035;18953687;17903307;15815621;15489334;14702039;12838346;12477932;16344560;16751776;21139048 84236 B9A054;C9J1R4;C9J4C7;C9JAS2;C9JQK8;C9K011;Q8TEB9 ABBA01050187;ABBA01050188;ABBA01050189;AC010735;AC073149;AK026955;AK074258;AK093986;AL512717;AL832364;AMYH01011539;AY640233;BC015553;BC027900;BC062636;BC071679;BC089404;BC101262;BC101263;BC101264;BC101265;BC111056;CA434330;CH471063;DB024396;DQ570409;NM_001167608;NM_032276 AAH27900;AAH62636;AAH89404;AAI01263;AAI01264;AAI01265;AAI01266;AAI11057;AAU14246;AAY24060;ADZ15688;BAB85031;CAC21658;EAW70841;EAW70842;NP_001161080;NP_115652;Q8TEB9 Hs.471514 1337672;1340497;1655497;1676312;1683459;1699546;1716457;1758977;1851651;2144115;2160055;5021564;7186326 D2S1349;D2S159;D2S2081;G02278;RH103372;RH121408;RH68455;RH93567;RH93902;SHGC-151021;SHGC-53082;STS-AA026333 DKFZp547E052;MGC117258;RRP4 OTTHUMP00000164233;rhomboid domain-containing protein 1;rhomboid-like protein 4;rhomboid-related protein 4 protein-coding ENSG00000144468 23081 13206 VALIDATED 1312890 RHBDF1 rhomboid 5 homolog 1 (Drosophila) 16 16 16 p13.3 309954 324535 - 48058 62591 - 108058 122629 - 6480464 18832597;18524845;16341674;15965977;14702039;12477932;11157797;9054936;8318735;8125298;20379614;20970119;21906983 64285 A2IDA2;B8ZZ07;F5GWL4;F8WBS4;F8WCF7;H0Y6L9;Q4TT58;Q96CC6 ABBA01030394;AE006462;AK026010;AK056708;AK225408;AK291177;AK304797;AK304812;AK309097;AMYH01006981;BC014425;BM830007;CH471112;CQ798836;DQ431198;M99624;NM_022450;Z69719;Z69720 AAA02490;AAH14425;AAK61212;ABD95905;BAB15318;BAF83866;BAG51794;BAG65547;BAG65562;CAG27587;CAI95607;CAI95608;CAI95609;CAM26658;CAX15112;EAW85873;EAW85874;EAW85875;EAW85876;NP_071895;Q96CC6 Hs.57988 1652240;1798652;1798674;1799494;1799646;1801772;1801920;1802858;1804774;1807024;1807502;1807758;1808876;1808878;1809316;1811936;1814264;1814988;1834162;1834556;2046776;2046778;2046780;2046782;2046784;2046786;2046788;2046790;2046792;2046794;2046796;2046798;2046800;2046802;2046804;2046806;2046808;2046810;2046812;2046814;2046816;2046818;2046820;2046822;2046824;2046826;2046828;2046830;2046832;2046834;2046836;2046838;2046840;2046842;2046844;2046846;2046848;2046850;2046852;2046854;2046856;2046858;2046860;2046862;2046864;2046866;2046868;2046870;2046872;2046874;2046876;2046878;2046880;2046882;2046884;2046886;2046888;2046890;2046892;2046894;2046896;2046898;2046900;2046902;2046904;2046906;2046908;2046910;2046912;2046914;2046916;2046918;2046920;2104344;2104346;2104348;2104350;2104352;2104354;2104356;2104358;2167916 ECD00166;ECD00177;ECD00598;ECD00677;ECD01767;ECD01841;ECD02317;ECD03320;ECD04477;ECD04723;ECD04852;ECD05421;ECD05422;ECD05649;ECD06972;ECD08161;ECD08525;ECD18229;ECD18426;REN94517;REN94518;REN94519;REN94520;REN94521;REN94522;REN94523;REN94524;REN94525;REN94526;REN94527;REN94528;REN94529;REN94530;REN94531;REN94532;REN94533;REN94534;REN94535;REN94536;REN94537;REN94538;REN94539;REN94540;REN94541;REN94542;REN94543;REN94544;REN94545;REN94546;REN94547;REN94548;REN94549;REN94550;REN94551;REN94552;REN94553;REN94554;REN94555;REN94556;REN94557;REN94558;REN94559;REN94560;REN94561;REN94562;REN94563;REN94564;REN94565;REN94566;REN94567;REN94568;REN94569;REN94570;REN94571;REN94572;REN94573;REN94574;REN94575;REN94576;REN94577;REN94578;REN94579;REN94580;REN94581;REN94582;REN94583;REN94584;REN94585;REN94586;REN94587;REN94588;REN94589;RH17768;SHGC-57831;stSG608834;stSG608837;stSG608838;stSG608839;stSG608840;stSG608841;stSG608842;stSG608843 C16orf8;Dist1;EGFR-RS;FLJ2235;FLJ22357;gene-89;gene-90;hDist1 OTTHUMP00000067140;epidermal growth factor receptor, related sequence;epidermal growth factor receptor-related protein;iRhom1;inactive rhomboid protein 1;p100hRho;rhomboid family 1;rhomboid family 1 (drosophila);rhomboid family member 1 protein-coding ENSG00000007384 20561 07027 614403 VALIDATED 1317887 RHBDD2 rhomboid domain containing 2 7 7 7 q11.23 70376144 70386071 + 75346253 75356180 + 75508317 75518244 + 6480464 16344560;15489334;14702039;12853948;12838346;12477932;9847074;19616622;22939629;22965880;22990118;23386608;21987572;21139048;21890473;21906983;23000965;21963094 57414 Q6NTF9;Q9UDT1 ABBA01005894;AC005067;AF226732;AK026590;AMYH01017557;BC006234;BC069017;BG707286;CH471220;DB050147;NM_001040456;NM_001040457 AAD45959;AAD45960;AAG09733;AAH06234;AAH69017;BAB15503;EAW71773;EAW71774;EAW71775;EAW71776;NP_001035546;NP_001035547;Q6NTF9 Hs.488827 1659122;1671856;1772987;1772989;2151396;2178760 GDB:4585521;GDB:6028678;NIB730;RH78544;SHGC-2358;WI-14388 NPD007;RHBDL7 H_RG122E10.2a;H_RG122E10.2b;OTTHUMP00000209879;OTTHUMP00000209882;WUGSC:H_RG122E10.2a;WUGSC:H_RG122E10.2b;rhomboid domain-containing protein 2;rhomboid, veinlet-like 7;rhomboid, veinlet-like 7 (drosophila) protein-coding ENSG00000005486 23082 11492 615203 VALIDATED 1320182 RHBDF2 rhomboid 5 homolog 2 (Drosophila) 17 17 17 q25.1 71059359 71089884 - 71978570 72009103 - 74466975 74497509 - 6480464;7240710 15342556;15060002;14702039;12838346;12477932;8125298;10737800;19913121;20628086;22344671;21963094;21890473;21906983;22265016;22638770 79651 K7EIY3;K7EJ10;K7EJD6;K7EKA3;K7EKI1;K7ELA9;K7EPN8;K7EPV3;K7EQ53;K7EQT5;Q6PJF5 ABBA01028741;ABBA01028742;AC015802;AK025994;AK057882;AK074034;AK225684;AK292135;AK292166;AK303434;AL833680;AMYH01008643;AMYH01008644;AY500247;BC016034;BC035829;BE076010;BM801831;BP284970;BP288209;CH471099;DC337840;DC348660;NG_032852;NM_001005498;NM_024599 AAH16034;AAH35829;AAS77567;BAB15310;BAB84860;BAF84824;BAF84855;BAH13960;EAW89401;EAW89402;EAW89403;EAW89404;NP_001005498;NP_078875;Q6PJF5 Hs.464157 1337564;1649157;2190361;5022578;5037552 D17S1817;D17S2239;D1S1423;D8S2279;RH16010 FLJ22341;RHBDL5;RHBDL6;TOC iRhom2;inactive rhomboid protein 2;rhomboid family member 2;rhomboid veinlet-like 5;rhomboid veinlet-like protein 5;rhomboid veinlet-like protein 6;rhomboid, veinlet-like 6;rhomboid, veinlet-like 6 (drosophila);rhomboid-like protein 6 protein-coding ENSG00000129667 20788 07987 148500;614404 VALIDATED 1347230 RHBDL1 rhomboid, veinlet-like 1 (Drosophila) This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 16 16 16 p13.3 926232 928424 + 666076 668268 + 726075 728267 + 633866;1580863;6480464 9662444 15489334;12477932;11157797;8889548;23263464 9028 H3BQ51;O75783 ABBA01030357;AE006464;AJ272344;AK294136;AMYH01006999;BC120874;BC120875;BI544995;BI600093;BM674847;CH471112;NM_001278720;NM_001278721;NM_003961;Y17108;Z92544 AAI20875;AAI20876;AAK61241;BAG57464;CAA76629;CAC00640;EAW85760;EAW85761;EAW85762;NP_001265649;NP_001265650;NP_003952;O75783 Hs.137572 RHBDL;RRP OTTHUMP00000149945;OTTHUMP00000149946;rhomboid, drosophila, homolog of;rhomboid-like protein 1;rhomboid-related protein 1 protein-coding ENSG00000103269 10007 07050 603264 REVIEWED 1352464 RHBDL3 rhomboid, veinlet-like 3 (Drosophila) 17 17 17 q11.2 27503536 27561889 + 27617308 27675793 + 30593195 30651680 + 6480464 15489334;12477932;11900977;22795130 162494 A4FU16;J3QQX4;P58872;Q495Y4;Q495Y5 ABBA01000711;AC005899;AC026620;AJ313480;AK124570;AK127490;AMYH01008335;BC016953;BC100975;BC100976;BC100977;BC100978;BX647302;CH471147;NM_138328 AAI00976;AAI00977;AAI00978;AAI00979;BAG54052;CAC86145;EAW80239;EAW80240;EAW80241;NP_612201;P58872 Hs.655027 1646686;1674418;2110707 D17S1927;G30298;RHBDL4__6922 FLJ45582;MGC119300;MGC119301;RHBDL4;VRHO rhomboid, veinlet-like 4;rhomboid-related protein 3;ventrhoid transmembrane protein protein-coding ENSG00000141314 16502 07501 VALIDATED 1317987 RHBDL2 rhomboid, veinlet-like 2 (Drosophila) The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 37630097 37686048 - 39124066 39180043 - 39351479 39407456 - 1580863;6480464 16710414;15489334;15047175;14702039;12820957;12477932;11672525;19850051;20080650;21494248;21833011;22267201 54933 B3KUN4;B7Z1Y9;Q9NX52 ABBA01023233;ABBA01023234;ABBA01023235;ABBA01023236;AK097621;AK294115;AL139260;AL714019;AMYH01000513;AMYH01000514;AW080436;AY126343;BC013103;BC137108;BC137110;BC144476;BC144477;BE876592;BX951305;CH471059;NM_017821 AAH13103;AAI37109;AAI37111;AAM95697;BAG53496;BAH11675;EAX07288;NP_060291;Q9NX52 Hs.524626 1340957;2109757;2152505;5015961;5109281;7187001 D15S1477;D1S1425;D1S432;RHBDL2_9848;SHGC-38080 MGC16997;RRP2 OTTHUMP00000000546;rhomboid (veinlet, Drosophila)-like 2;rhomboid protease 2;rhomboid-like protein 2;rhomboid-related protein 2 APPROVED protein-coding ENSG00000158315 16083 07151 608962 REVIEWED 1346400 RHEBL1 Ras homolog enriched in brain like 1 12 12 12 q13.12 48253252 48258558 - 47744735 47750042 - 49458468 49463775 - 737633;1580863;6480464 12477932 12869548;16328882;16189514;16098514;15761153;21655954 121268 C9JQQ1;F8W1T5;Q8TAI7 ABBA01031499;ABBA01031500;AC011603;AK098663;AMYH01004437;AY327412;AY509932;BC014155;BC027482;CH471111;NM_144593 AAH14155;AAH27482;AAP92804;AAS80166;BAC05370;EAW58037;EAW58038;NP_653194;Q8TAI7 Hs.159013 1706210;1709108;1712440 G54255;SHGC-80634;SHGC-85712 FLJ25797;MGC34869;RHEBL1c GTPase RhebL1;OTTHUMP00000243723;Ras homolog enriched in brain like 1 c;ras homolog enriched in brain like-1 c;ras homolog enriched in brain-like protein 1;rheb-like protein 1;rheb2 protein-coding ENSG00000167550 21166 15245 PROVISIONAL 7205588 RHEBP2 Ras-homolog enriched in brain pseudogene 2 10 47396223 47397187 + 101060032 BX649215 pseudo 44991 MODEL 1352603 RHEBP1 Ras-homolog enriched in brain pseudogene 1 10 10 q11 46333677 46335227 + 46913771 46915114 + 729721 8206940 17470430;12869548;8543055 6008 ABBA01205086;AL356056;AMYH01002427;NG_002826 RHEB;RHEB1 pseudo 10010 INFERRED 7205553 RHEBP3 Ras-homolog enriched in brain pseudogene 3 22 q11.21 18501972 18503370 - 692231 AC016027;AMYH01012440;NG_005692 pseudo 44992 INFERRED 736735 RHD Rh blood group, D antigen The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.11 25471568 25529523 + 25598981 25656936 + 1580863;6480464 1438298;19388479;19170995;19055536;18544617;18426681;18027815;17900276;17497744;17204201;17196520;17036929;17035176;17029203;16934070;16722361;16584906;16584438;16584437;16510313;16181207;16181204;15987365;15754970;15373666;15318849;15284121;15112469;15043574;14570619;12919427;12857961;12760254;12675718;12493401;12477932;12439825;12393640;12358932;12201845;12200394;12130520;12084172;12070041;11902138;11724987;11716963;11436564;11288127;11161244;10924335;10845894;10753853;10737800;10627438;10607679;1824267;1379850;10590042;9864185;9845707;8900235;8822955;8808597;8669091;8639918;8554049;8341334;8329718;8220426;8188244;8180407;8080999;7916743;7888828;7789951;7741145;7606008;3146980;3135863;3131772;1898705;17029192;20608477;19364677;19374729;19545247;20188798;20233350;16603771;20723165;22420867;19392776;21072752;21133932;22121029;21745213;21269342;21658048;22211984;22690701;22738288;22804620;21488716;22320258;22288371;23209579 6007 E7EVW1;H3BT10;Q1KT12;Q5XLS9;Q5XLT1;Q5XLT2;Q5XLT3;Q7RU08;Q9UQ20 AB012623;AB012658;AB012659;AB012660;AB012661;AB012769;AB018966;AB018967;AB018968;AB018969;AB037270;AB046420;AB049754;ABBA01059930;AF037626;AF177938;AF187846;AF312679;AF390110;AF390111;AF510069;AF510070;AJ131502;AJ276015;AJ276016;AJ278873;AJ299020;AJ417868;AJ428455;AJ504792;AJ534720;AJ548429;AJ548430;AJ548431;AJ548432;AJ557803;AJ557825;AJ557826;AJ557827;AJ585038;AJ585039;AJ585040;AJ585041;AJ630375;AJ633649;AJ704215;AJ784311;AJ784312;AJ867386;AJ867387;AJ867775;AJ867776;AK297151;AL928711;AM049242;AM072758;AM072759;AM072961;AM157176;AM181333;AM183924;AM234631;AM398143;AM398144;AM691826;AM998540;AM998549;AMYH01000380;AMYH01000381;AMYH01000382;AMYH01000383;AMYH01000384;AV746749;AW805821;AY149684;AY149686;AY149687;AY170011;AY449381;AY449382;AY449383;AY449384;AY449385;AY751491;AY751492;AY751493;AY751494;AY751495;AY751496;AY756316;AY864887;AY864888;AY864889;BC139922;BF798211;BN000065;DQ088169;DQ088170;DQ121434;DQ121435;DQ451878;DQ534022;DQ534023;EU335052;EU372940;EU372941;EU372942;EU557240;EU557241;EU661905;EU661906;EU661907;FN394731;FR745438;FR745439;FR745440;FR745441;FR822382;HE577129;HE657774;HE657775;HF586484;HF674881;JF436967;JN635688;JN635689;JQ065733;JQ424879;L08429;NG_007494;NM_001127691;NM_016124;S57971;S70174;S73913;S78509;S82449;S83376;S83379;U66341;X63094;X63097;Z97026;Z97031;Z97334 AAA02679;AAB26081;AAB30756;AAB31911;AAB34852;AAB37696;AAB39602;AAD02100;AAD55773;AAF04565;AAG40872;AAI39923;AAI60075;AAM46621;AAM46622;AAN75125;AAN75126;AAN86716;AAN86717;AAO27437;AAO27438;AAO27439;AAO39709;AAR24078;AAR24079;AAR24080;AAR24081;AAR24082;AAU93635;AAU93636;AAU93637;AAU93638;AAU93639;AAU93640;AAV51934;AAX63192;AAX63193;AAX63194;AAZ09245;AAZ09246;AAZ09247;AAZ09248;ABE77177;ABF83900;ABF83901;ABY75965;ABY75966;ABY75967;ACA35010;ACB87204;ACB87205;ACD43640;ACD43641;ACD43642;AEK48078;AEX55120;AEX55121;AEY68242;AFG26682;BAA32804;BAA32815;BAA32817;BAA32818;BAA70073;BAA70085;BAA81899;BAA81900;BAA81901;BAA82159;BAA90298;BAB16598;BAB21261;BAG59650;CAA10381;CAA44808;CAA44811;CAB09722;CAB09727;CAB10170;CAC07808;CAC10191;CAC81663;CAC81664;CAD10630;CAD21486;CAD29848;CAD43296;CAD58985;CAD68166;CAD68167;CAD68168;CAD68169;CAD89873;CAD89887;CAD89888;CAD89889;CAE51071;CAE51072;CAE51073;CAE51074;CAF74820;CAG17774;CAG28848;CAH04921;CAH04922;CAI29761;CAI29762;CAI30431;CAI30432;CAJ15658;CAJ26348;CAJ26349;CAJ26351;CAJ43113;CAJ57392;CAJ75460;CAJ81056;CAL44955;CAL44956;CAM88658;CAQ53121;CAQ53130;CAY97110;CBY78078;CBY78079;CBY78080;CBY78081;CBZ41224;CCC86599;CCF77703;CCF77704;CCQ71544;CCQ71941;NP_001121163;NP_057208;Q02161 Hs.449968 1649544;1693240;1738995;1848804;1853186;2147059;2157134;5022578;5125413 AL033573;D1S1423;D1S2236;RH71035;RHD;SGC38385;SHGC-11980;SHGC-33490;SHGC-74423 CD240D;DIIIc;MGC165007;RH;RH30;RHCED;RHDVA(TT);RHDel;RHPII;RHXIII;Rh4;RhDCw;RhII;RhK562-II;RhPI D antigen (DCS);OTTHUMP00000003536;OTTHUMP00000211878;RH polypeptide 2;Rh blood group antigen Evans;Rh blood group, D anitgen;Rhesus blood group D antigen allele DIII type 7;Rhesus system D polypeptide;blood group Rh(D) polypeptide;rhesus D antigen;rhesus blood group APPROVED protein-coding ENSG00000187010 10009 00199 111680 REVIEWED 1604848 RHCE Rh blood group, CcEe antigens The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008] 1 1 p36.11 25561327 25619950 - 25688740 25747363 - 7240710 11380456;11161244;10938938;10924335;10627438;9657769;9087447;8900235;8889548;8822955;8808597;8220426;8188244;8117271;7916743;7789951;3146980;3135863;2123099;2045679;1907207;1900257;1898705;1696722;1379850;1438298;19170983;18460195;18382999;17900276;17298125;17140342;17080665;16722361;16686844;16584906;16563829;15783300;15373666;15023184;14996199;14996197;12857961;12477932;12393640;12201845;12084172;11902138;11861637;11724987;11493738;11436564;19951310;19076333;19207167;19453979;19453980;20233350;20932075;19913121;20628086;20576012;23286557;21251469;21517889;22690701;22738288;22804620;22958092 6006 E7EMF2;E7EN29;E7EQ47;E7EU00;E7EWZ5;E9PKB3;H0YCJ8;Q5VSJ7;Q5VSJ8;Q5VSJ9;Q9UD74 AB016499;AB016502;AB018644;AB018645;AB030388;AB049753;ABBA01059932;ABBA01059933;ABBA01059934;ABBA01059935;AF056965;AF056966;AF056967;AF390114;AF510065;AF510066;AF510067;AF510068;AJ276017;AJ295346;AJ504793;AJ867774;AL031284;AL928711;AM072761;AM072960;AM182448;AM182449;AM183925;AM183927;AM260938;AM295498;AM295506;AMYH01000385;AMYH01000386;AMYH01000387;AMYH01000388;AMYH01000389;AY603478;BC075081;BC139905;BM684087;BN000065;CH471134;DQ178642;DQ266353;DQ266400;DQ322275;DQ451877;FR691748;FR691749;FR691750;GU474431;GU563377;GU810838;HE572747;HG326207;HQ711843;HQ711844;HQ711845;HQ711846;HQ711847;JX420291;JX420292;JX420293;JX420294;JX420295;JX420296;JX420297;JX420298;JX420299;JX420300;JX420301;JX420302;M34015;NG_009208;NM_020485;NM_138616;NM_138617;NM_138618;S57967;S70456;U66340;X54534;X63095;X63096;X63098;Z97333 AAA36567;AAB26080;AAB39601;AAC18092;AAC18093;AAC18094;AAD14061;AAH75081;AAI39906;AAM46623;AAN75121;AAN75122;AAN75123;AAN75124;AAT35811;ABA25912;ABB69097;ABB97471;ABC55358;ABE77176;ADB95952;ADD62791;ADE44507;ADU25347;ADU25348;ADU25349;ADU25350;ADU25351;AFS64571;AFS64572;AFS64573;AFS64574;AFS64575;AFS64576;AFS64577;AFS64578;AFS64579;AFS64580;AFS64581;AFS64582;BAA33927;BAA33928;BAA36694;BAA36696;BAA82627;BAB16597;CAA38401;CAA44809;CAA44810;CAA44812;CAB10169;CAC51514;CAC81665;CAD29850;CAD43297;CAI30430;CAJ26347;CAJ27264;CAJ58683;CAJ58684;CAJ75454;CAJ75456;CAJ98536;CAL29648;CAL29656;CBX20979;CBX20980;CBX20981;CCC42283;CDG06148;EAW95162;EAW95163;EAW95164;EAW95165;EAW95166;EAW95167;NP_065231;NP_619522;NP_619523;NP_619524;P18577 Hs.449968;Hs.523054 1649544;1658277;1667800;1693240;1738995;1853186;1853859;2128018;2147059;2154369;2157134;5125413 A002S18;AL033573;D1S2236;RH11830;RH71035;SGC38385;SHGC-11980;SHGC-19731;SHGC-33490;SHGC-74419;SHGC-74423;WI-18360 CD240CE;MGC103977;RH;RH30A;RHC;RHE;RHIXB;RHPI;Rh4;RhIVb(J);RhVI;RhVIII OTTHUMP00000008980;OTTHUMP00000040543;OTTHUMP00000040544;OTTHUMP00000040545;OTTHUMP00000235019;RHCE blood group variant Crawford antigen Rh43;Rh blood group C antigen;Rh blood group Rhce antigen;Rh blood group antigen Evans;Rh polypeptide I;Rhesus blood group CE antigen;Rhesus blood group CE protein;Rhesus blood group E antigen;Rhesus blood group Rhce antigen;Rhesus system C and E polypeptides;blood group Rh(CE) polypeptide;blood group RhCcEe antigen;rh polypeptide 1;rhesus C/E antigens;rhesus blood group antigen, RhC antigen;rhesus blood group little e antigen;silenced Rh blood group CcEe antigen;truncated RHCE APPROVED protein-coding ENSG00000188672 10008 00200 111690;111700 REVIEWED 1345053 RHCG Rh family, C glycoprotein 15 15 q25 87815642 87840803 - 90014638 90039799 - 6480464 16580862;18032481;14761968;15929723;12846905;12719424;10852913;12204676;16928804;12388412;19357182;18367154;16564724;16477434;16227429;15489334;12477932;11062476;1417776;19913121;20628086;19429772;20126667;20457942 51458 F5H0A6;H0YKQ3;H0YM79;H0YMF8;H0YMS1;Q9UBD6 ABBA01053012;ABBA01053013;AC013391;AF081497;AF193809;AF219986;AF284446;AK290899;AK298252;AK298641;AK301640;AK310222;AK313238;AMYH01006914;AY257182;BC015461;BC030965;CH471101;NM_016321 AAD55748;AAF19372;AAG02171;AAG02414;AAH30965;AAP81044;BAF83588;BAG36049;BAG60517;BAG60816;BAG63121;EAX02051;EAX02052;NP_057405;Q9UBD6 Hs.459284 1697190;1757065;2112966;2112972 D15S1441E;D15S1444E;RH102085;SHGC-144446 C15orf6;PDRC2;RHGK;SLC42A3 OTTHUMP00000194456;Rh type C glycoprotein;ammonium transporter Rh type C;rh family type C glycoprotein;rh glycoprotein kidney;rhesus blood group family type C glycoprotein;tumor-related protein DRC2 protein-coding ENSG00000140519 18140 16102 605381 PROVISIONAL 1351825 RHBG Rh family, B glycoprotein (gene/pseudogene) This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 1 1 q21.3 154605627 154621635 + 156338980 156355013 + 1580863;6480464 18032481;18635543;15929723;15611082;12595489;11024028;19357182;16710414;16227429;15489334;15284342;14702039;12477932;11358367;10852913;19913121;20628086;19429772;16281947;16584906;16764738;17106214;19953292;20539225;21988832;23324176;22589738 57127 B7Z8R8;F5GWZ4;F5H473;F8W6Q8;F8WEM6;H0Y346;Q9H310 ABBA01016660;ABBA01016661;ABBA01016662;AF193807;AF219980;AI310325;AK054780;AK290840;AK294641;AK303799;AK303814;AK308556;AL139130;AL589685;AMYH01001437;AY139092;AY139093;BC065218;CH471121;DC393205;NM_001256395;NM_001256396;NM_020407;NR_046115 AAG01086;AAH65218;AAL05978;AAN34363;AAN34364;BAF83529;BAG51423;BAH11830;BAH14054;BAH14058;EAW52959;EAW52960;EAW52961;EAW52962;EAW52963;NP_001243324;NP_001243325;NP_065140;Q9H310 Hs.131835 1685359;5015961 D15S1477;RH70095 SLC42A2 OTTHUMP00000025727;Rh type B glycoprotein;Rhesus blood group, B glycoprotein;ammonium transporter Rh type B;rh family type B glycoprotein;rhesus blood group family type B glycoprotein APPROVED protein-coding ENSG00000132677 14572 06152 607079 REVIEWED 731395 RHO rhodopsin Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008] 3 3 q21-q24 130730172 130736877 + 129247482 129254187 + 1601619;1601635;1580863;1601620;6480464;6893536;6907045;7240710 2215617;15911114;8358437;21704730 1882937;1765377;8107847;17693260;1418997;8253795;11256614;19506198;19493002;19325938;19085385;18974094;18698306;18552984;18487375;18385078;18318631;18175313;17936999;17653048;17488458;17325176;17289151;16767206;16565402;16381901;16229860;16185528;16049034;15823756;15793783;15726226;15659613;15509574;15489336;15489334;15251955;15232620;14566652;12871954;12754272;12646201;12601165;12590587;12477932;12359230;12297272;12091393;11972042;11910130;11910029;11498053;11394879;11230166;11076863;10980774;10722682;10636894;10051572;9888392;9852134;9169442;9099669;8943080;8841304;8617805;8566799;8554077;8430695;8406457;8401533;8366096;8353500;8317502;8288567;8240107;8180207;8144599;8088850;8081400;8076945;8045708;7987385;7987331;7987326;7981701;7846071;7673885;7633434;7523628;6589631;3942531;3769527;3350146;2629206;2613244;2333895;2239971;2218504;2137202;2016091;1987955;1985460;1917988;1897520;1862076;1840561;1833777;1589761;1580841;1539595;1484692;1391967;1356370;1302614;1301135;20591486;20374723;20697005;20801516;20832389;20555336;20558345;18240029;19206210;19439413;19795853;19801547;19836958;19934218;19955366;19958124;19960070;20097236;20164459;20628051;21094163;11767049;21402790;21174529;20603337;20238025;22251557;23049240;22956602;21677794;21352497;21659526;21978933;21940625;21921035;22145929;23288993;23402891;22217031;22219383;22419850;22183378;22183380;22318606;20301590;22126625;22791210;22855534;17453418;22736939 6010 P08100 AB065668;ABBA01059226;ABBA01059227;AC080007;AMYH01013476;BC112104;BC112106;BX537381;CH471052;NG_009115;NM_000539;S81166;U16824;U49742 AAA97436;AAB35906;AAC31763;AAI11452;AAI12105;AAI12107;BAC05894;CAD97623;CAL37658;EAW79244;NP_000530;P08100 Hs.247565 1686660;1741461;1741893;1744215;1778649;2122355;2133155;2156216;2158148;2164850;2219630;5491371 GDB:171129;GDB:181225;GDB:186557;GDB:437730;RH26341;RH78627;RHO-5UUTR;RHO__5497;Rho;SGC31296;SHGC-30855;SHGC-31114 CSNBAD1;MGC138309;MGC138311;OPN2;RP4 OTTHUMP00000215767;opsin 2, rod pigment;opsin-2;retinitis pigmentosa 4, autosomal dominant;rhodopsin;rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) APPROVED protein-coding ENSG00000163914 10012 01584 136880;180380;610445;613731 REVIEWED 1602857 RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 12 12 12 p13.33 4600319 4612514 + 2856650 2868887 + 2985424 2998691 + 6480464 16344560;15489334;15221005;14702039;12477932;11414747;21145461;20811708;21659603;17525332;16341674;19322201 83695 F5H0U1;F5H580;F5H795;F5H7S2;Q9BSD3 AB073599;ABBA01048796;AC005841;AC005911;AF386144;AF386429;AF386459;AI631627;AK021945;AK304613;AK315364;AMYH01004182;AMYH01004183;BC000079;BC005106;BM847461;CH471116;DA378594;DA679606;DA749974;DA965227;NM_001252499;NM_001252500;NM_001257097;NM_001257098;NR_027365;NR_046432;NR_046433 AAM46246;AAM46518;AAM46547;BAD38639;BAH14225;EAW88879;NP_001239428;NP_001239429;NP_001244026;NP_001244027;Q9BSD3 Hs.198853 1661325;1682083;5022322 D11S2560;RH46379;STS-N62451 C12orf32;FLJ60873;HKMT1188;MGC13204;RHINO RAD9, HUS1, RAD1-interacting nuclear orphan protein 1;RAD9, RAD1, HUS1-interacting nuclear orphan protein;Rad9, Rad1, Hus1 interacting nuclear orphan APPROVED protein-coding ENSG00000171792 28206 17487 614085 VALIDATED 1320529 RHOBTB2 Rho-related BTB domain containing 2 The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 8 8 p21.3 22913407 22933653 + 22844930 22877710 + 1580863;6480464;6907045 18762809;18640857;18039672;17906984;17653899;17617377;17517369;17023000;16344560;15663929;15489334;15107402;12477932;12426103;12370419;12168954;11222756;9872452;18835386;21145461;19714462;19336002;19173804;19773279;19937980;20237496;22901165;20930524;20980811;21801820;22709582 23221 A8K9Z8;E5RI44;E9PBU2;E9PEI7;Q9BYZ6 AA641575;AB018260;ABBA01005532;ABBA01005533;AC107959;AF315385;AK098744;AK292863;AK314366;AMYH01018570;AY009093;BC034917;BG255120;CH471080;DA289763;NM_001160036;NM_001160037;NM_015178 AAG61157;AAH34917;AAK07562;BAA34437;BAC05401;BAF85552;EAW63644;EAW63645;EAW63646;NP_001153508;NP_001153509;NP_055993;Q9BYZ6 Hs.372688 1721717;1767097;1774383;1775586;2116357;2184397;2191593 D8S1662;D8S2055;G59723;MARC_26768-26769:1034174633:1;WI-14836;WI-15306;WI-16696 DBC2;KIAA0717 OTTHUMP00000123494;OTTHUMP00000224748;OTTHUMP00000224749;deleted in breast cancer 2 gene protein;p83;rho-related BTB domain-containing protein 2 APPROVED protein-coding ENSG00000008853 18756 06300 607352 REVIEWED 1353122 RHEB Ras homolog enriched in brain This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008] 7 7 q36 150794031 150847943 - 151163098 151217010 - 1625616;1625606;1580863;1625609;2308795;6480464;6484113;6907045 16885148;16354680;15240005;19339977 12906785;8543055;8206940;8661031;15755954;15809305;15951850;19222999;18948269;18842593;18708578;18708577;18658153;18650380;18550814;18521078;18324915;17991864;17928295;17470430;17018601;16803888;16631613;16344560;16098514;16006564;15878852;15854902;15809346;15728574;15489334;15388940;15340059;15308774;15150271;14702039;12869548;12853948;12842888;12820960;12771962;12690205;12477932;11980706;10924367;9847074;9099708;9001246;8889548;17077083;16915281;15772076;15775987;9130713;12869586;20053679;19570981;19636822;19838215;20048149;20127734;20354165;20388784;20375271;20554106;20685651;20837708;21048031;20818424;21412983;21336308;21437936;21163940;20732420;21784859;21135540;21139048;21890473;21906983 6009 C9J469;C9J931;F8WBL3;Q15382 AACC02000108;ABBA01035154;AC005996;AF148645;AF493921;AK125446;AK289370;AMYH01018145;BC009638;BC016155;BC066307;BC107705;BG702213;BM670621;BT006958;CH471173;D78132;DA475169;NM_005614;Z29677 AAD15548;AAF73125;AAH16155;AAH66307;AAI07706;AAM12635;AAP35604;BAA11211;BAF82059;BAG54198;CAA82774;EAL24515;EAW53986;EAW53987;EAW53988;EAW53989;NP_005605;Q15382 Hs.283521;Hs.568850;Hs.647068 1644380;1847131;5020864;5023614;5124057 G62040;RH18139;RHEB;SHGC-37157;WI-22302 MGC111559;RHEB2 GTP-binding protein Rheb;OTTHUMP00000211964;Ras homolog enriched in brain 2 APPROVED protein-coding ENSG00000106615 10011 03188 601293 REVIEWED 1315735 RHOBTB1 Rho-related BTB domain containing 1 The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 q21.2 55895951 56028156 - 62299202 62431204 - 62629196 62761198 - 1580863;6480464;6907045 18835386;21145461;16344560;16170569;15489334;15146197;14702039;14521508;12477932;12426103;11222756;9872452;16385451;19430483;23040068;22709582;21906983 9886 O94844;Q567T3 AB018283;ABBA01019468;ABBA01019469;ABBA01019470;AC011197;AC027678;AK075129;AK307630;AK309440;AMYH01002767;BC032848;BC041791;BC093035;BQ574439;BU624790;CB959762;CF593541;CH471083;CN286750;CQ783182;DA781491;DA830304;DA859805;DB453441;DR004641;NM_001242359;NM_014836;NR_024554;NR_024555 AAH32848;AAH41791;AAH93035;ABM83380;ABM86592;BAA34460;BAC11421;CAF86387;EAW54211;EAW54212;EAW54213;EAW54214;EAW54215;EAW54216;EAW54217;NP_001229288;NP_055651;O94844 Hs.737374 1655796;1666505;1764795;2124751;2161807;2170312 BCD1607;SHGC-148362;SHGC-36311;SHGC-58267;STS-R82637;WI-11491 KIAA0740;MGC33059;MGC33841 OTTHUMP00000019662;OTTHUMP00000019663;rho-related BTB domain-containing protein 1 APPROVED protein-coding ENSG00000072422 18738 06299 607351 REVIEWED 1351195 RHOB ras homolog family member B 2 2 p24 20510316 20512682 + 20646835 20649201 + 2298874;6480464 12237774 14702039;14647415;13679859;13679852;12939257;12878865;12477932;12473120;12221096;11905808;11788600;11786539;11741970;11546812;11353846;11149925;10913192;10713718;9811589;9734811;9478917;8939998;8889548;8621375;7713879;7537292;3283705;2407642;8543060;15102679;1400319;3888408;10508588;15226397;19208833;18694745;18590726;18524772;18471322;18212741;18056259;18047684;17728102;17405813;17304710;17198702;17096327;17054945;17046241;16642435;16278215;15944396;15815621;15713677;15642170;15574879;15489334;22539766;15451670;17163575;18464290;19477269;19637314;19782069;19911011;19995557;20237151;8617235;19889053;20460403;20473933;20717930;20810568;19997872;22939629;22992742;21565167;21373644;16236794;16196087;22366462;21987572;21872591;21139048;21347332;19322201;22227305;21750679;23135917;22673745;23000965;22724071;22896740;22092654 388 P62745;Q7Z4F6 ABBA01018474;AC023137;AF171089;AF498971;AK124398;AK312487;AMYH01010154;BC062781;BC066954;BK001232;BK001671;BM669284;BT019546;BT019547;CH471053;CR542272;M12174;NM_004040;X06820 AAA36565;AAH66954;AAM21118;AAQ13605;AAV38353;AAV38354;AAY24345;ACE87799;ACT64485;BAG35389;BAG54035;CAA29968;CAG47068;DAA01138;DAA01912;EAX00819;EAX00820;NP_004031;P62745 Hs.502876 1650630;2123599;2131877 RH16017;RH44304;RH66820 ARH6;ARHB;MST081;MSTP081;RHOH6 Aplysia RAS-related homolog 6;OTTHUMP00000115947;h6;oncogene RHO H6;ras homolog gene family, member B;rho cDNA clone 6;rho-related GTP-binding protein RhoB APPROVED protein-coding ENSG00000143878 668 01321 165370 VALIDATED 1322195 RHOD ras homolog family member D Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. [provided by RefSeq, Jul 2008] 11 11 q14.3 66580897 66596060 + 66824289 66839488 + 1580863;6480464 9116026;19160018;18829532;18648664;18552504;18407999;17916560;17342762;17056591;17029007;16651639;16341674;15761153;15489334;15187129;12577064;12477932;11784792;11484930;11350626;10894936;14749388;19576212;19682162;19826002;20528248;20630939;21906983;21963094;21988832;22665057;20881960;23087206;23454120;23417980;22219277;22262769 29984 E9PIG5;E9PMC8;O00212 ABBA01024050;AF498973;AMYH01003739;AP000729;BC001338;BM761362;CA433897;CH471076;CS026791;D85815;NM_014578 AAH01338;AAM21120;ABM82050;ABM85229;BAA19652;CAI61861;EAW74577;NP_055393;O00212 Hs.15114 1670999;2159320 STS-N39550;STS-W95064 ARHD;RHOHP1;RHOM;Rho OTTHUMP00000235165;Rho-related protein HP1;ras homolog D;ras homolog gene family, member A;ras homolog gene family, member D;rho-related GTP-binding protein RhoD APPROVED protein-coding ENSG00000173156 670 05776 605781 REVIEWED 1323267 RHOBTB3 Rho-related BTB domain containing 3 RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004] 5 5 5 q15 90945592 91010810 + 95092606 95157827 + 95066850 95132071 + 1580863;6480464 12426103;18029348;17035353;15489334;15146197;14702039;12477932;11222756;10048485;9110174;8619474;21145461;18835386;19019082;19490898;19834535;21987572;21139048;21890473;21906983;22709582;22245496 22836 D6R935;D6RC79;D6RG10;H0Y8R9;H0Y9A8;H0Y9P6;H0Y9R7;H0Y9W9;H0YA85;O94955 AB020685;ABBA01069246;ABBA01069247;AC008821;AC008840;AF131794;AK023621;AK290034;AMYH01015490;BC013169;BC020231;BC041337;BC047884;CH471084;CN361948;HA637644;NM_014899 AAH20231;AAH41337;BAA74901;BAF82723;CAZ39544;EAW96049;EAW96050;EAW96051;EAW96052;NP_055714;O94955 Hs.445030 1645846;1651733;1669039;1676780;1739067;1770364;2128739;2160167;2172073;5110972 A004C42;D5S1660E;D5S1783;D5S2609;L28220;RH18360;RH47558;RH78553;RH80603;STS-Z40605 KIAA0878 OTTHUMP00000149984;rho-related BTB domain-containing protein 3 APPROVED protein-coding ENSG00000164292 18757 09557 607353 VALIDATED 1347797 RHOA ras homolog family member A 3 3 p21.3 49371582 49424530 - 49396578 49449526 - 1547860;1547861;1642819;1642801;1642807;1642810;1642826;1642966;1642967;1642803;1642963;2302030;2298874;2298875;2298885;2298881;2298866;2298867;2298869;2298879;2298868;2298888;2298872;2298873;2298877;2298887;6480464;6484113;6907045;7207227 11768613;12581011;16322374;17620967;17316608;17184496;17534117;17367505;17322412;17596891;17376765;15637299;12237774;11872041;18391481;16267124;18575772;17109064;15269155;16492715;17007568;17929039;12855641;12808121;18091588;17983427;12239094 7835413;3822842;2407642;1556108;1328215;16105876;17353931;15659383;11368848;9490022;9535855;16189514;12515866;11432776;12857875;12454018;12446789;12773565;8816443;9535835;11162552;12482610;12748184;12842009;14530271;15834426;15889147;15766663;15652748;15809302;15793569;15793564;15761153;15755723;15668138;15643515;15642170;15640525;15611088;15598682;15579505;15574779;15557193;15535843;15530360;15489334;15475381;15475352;15448013;15331592;15322077;15308673;15298851;15210811;15208091;15184877;15817453;15155793;18687805;18660502;18653556;18651974;18628484;18593598;18567581;18541705;18524772;18509476;18509267;18495213;18477564;18458160;18445682;18434237;18356691;18334926;18316594;18314880;18300342;18292502;18287519;18287089;18198190;18182571;18172303;18096806;18088600;18079197;18078809;18005701;18005700;17976533;17951409;17947676;17947237;17914970;17896152;17855350;17825823;17702745;17673200;17658517;17636025;17635521;17597401;17562701;17517067;17507466;17502338;17493936;17492768;17488622;17446864;17360533;17332506;17310253;17301947;17301291;17300916;17284169;17273773;17197445;17190792;17178865;17130286;17115030;17086988;17077126;17018860;17018591;16996686;16978776;16904289;16864657;16776827;16772297;16684954;16681996;16652149;16645187;16644720;16632465;16622418;16540523;10436159;15644318;10066731;12761501;17488780;15467718;19470470;19451223;19421144;19391109;19372585;19318350;19306108;19293150;19265130;19234490;19173301;19152186;19151751;19147561;19147496;19103606;19049388;19038009;19015318;18996642;18996344;18955552;18953413;18948190;18937283;18929667;18923442;18922893;18851832;18844232;18835241;18829495;18827818;18824598;18781093;18757503;18757369;18751372;18721871;18713748;18694745;18688040;16513651;16496227;16481321;16472676;16427251;16424340;16402387;16397238;16394104;16352658;16308318;16257181;16247472;16118207;16112081;16109481;16103226;16061799;15963982;15925904;15901767;16537448;15890975;15843433;15125835;15102021;15096506;15069594;15068789;15023524;15016733;15009099;15003991;14749388;14660612;14657501;14644158;14612927;14605490;14581471;14514689;14506264;12972601;12972426;12944407;12939257;12900402;12879077;12847276;12805219;12777804;12766172;12719789;12692008;12654918;12593858;12584113;12579323;12538863;12534282;12533515;12524425;12490434;12477932;12466390;12445208;12432077;12423633;12401808;12397214;12244193;12221096;12221077;12169092;12154081;12119292;12115629;12093360;12071848;12062101;12016230;12006984;11998687;11948427;11927263;11909943;11907271;11889037;11839765;11839748;11830597;11830497;11822867;11818523;11788600;11786539;11779461;11751986;11741970;11696353;11689693;11672528;11591790;11560922;11373293;11350930;11335720;11311142;11284700;11149925;11085924;10948190;10947987;10940294;10896672;10854437;10748207;10713718;10526156;10523675;10388627;10220378;10051605;9857026;9804788;9799233;9647788;9635436;9614111;9605859;9582072;9565577;9548756;9545299;9446575;9407060;9354661;9302995;9199174;9121475;9113980;8910519;8798490;8769096;8662891;8641286;8617235;8543060;8491184;8125298;8039707;7989340;22907703;21242305;21576392;20220547;20223287;20399237;20547485;20733052;10489445;10595511;10619026;12692556;12951563;15128850;15670823;15710384;15864301;16188938;16215275;17335080;17719543;19403695;19443661;19477269;19487339;19499974;19506078;19509057;19527220;19533666;19550117;19586902;19602845;19620624;19625450;19635823;19642867;19644046;19651782;19654316;19680746;19682162;19726670;19752040;19762715;19772916;19773279;19776349;19782033;19787194;19798549;19805522;19826000;19857574;19911011;19944695;19956681;20041165;20056178;20068229;20236512;20307617;20348106;20363740;20403997;20416077;8571127;19912238;20429915;20140537;20808760;20828398;20937815;20006706;20376724;18983771;20061625;20442409;20696764;20801873;20591975;21779788;22070920;22242598;20130732;20628200;20814828;21145500;20655307;20660160;20682776;20805359;20811682;20859068;20383141;20507639;19913121;20628086;20877624;20503409;20554761;22750095;22992742;21266463;21451048;21351730;20558775;20971525;21112276;20945370;21079737;20886658;21087931;21186079;15102857;21277858;21281639;21130456;21212278;21273559;19934221;21071443;21258369;22328514;23066013;23079622;22820501;22939629;22963825;22495072;21518791;19635168;20499158;21208644;21209619;21303778;21454546;20030946;21534245;21600098;21667311;21816819;21907186;21390328;22893699;20360068;21698469;21257924;21750647;21439370;22645245;23070684;23418489;23620398;19573309;20856855;21265091;20460433;22001926;21757538;21878647;20473500;21643014;21739156;21756816;21858203;21917148;21987572;22009749;16196087;20026602;20553488;21708152;15075243;17572668;17940286;19794400;20457808;21454543;21936715;22197032;22505724;22673622;21574962;21628952;22699054;22842919;23166513;23176180;12938929;21906983;22072711;22087025;22774404;22361510;22655072;17142836;21161732;21402695;22456196;22583359;22500016;21575498;21898412;21983114;22041269;22049212;22114142;22120672;22226472;22226621;22275376;21475975;22363817;22228765;22241857;22251897;22575513;21129722;23500462;23307872;23570668;23283961;11157984;15085137;17318188;21890473;21963094;21988832;22673745;23000965;23195957;23243284;23405219;22854067;23493395;22984590;22740689;22949615;22092654;22593208;22628549;19620060;22161021;22584506;23042265 387 C9J1T2;C9JNR4;C9JRM1;C9JX21;P61586;Q9BVT0 ABBA01024587;ABBA01024588;ABBA01024589;ABBA01024590;ABBA01024591;ABBA01024592;ABBA01024593;ABBA01024594;AC104452;AC121247;AC137114;AF498970;AK130066;AK130808;AK222556;AK296654;AK307220;AMYH01013156;AMYH01013157;AMYH01013158;BC000946;BC001360;BC005976;BT019870;BX647063;CH471055;CS401488;L09159;L25080;M83094;NM_001664;X05026 AAA50612;AAA67539;AAC33178;AAH00946;AAH01360;AAH05976;AAM21117;AAV38673;ACE86513;ACE87194;BAD96276;BAG59251;CAA28690;CAE46190;CAL40338;EAW64978;EAW64979;EAW64980;NP_001655;P61586 Hs.247077 1298237;1657441;1683595;1722513;1730133;1741423;2127319;2173897;2177919 A004G04;A004T30;D3S1330E;D3S2384;G60181;GDB:181197;RH46190;RH91501;WI-18922 ARH12;ARHA;RHO12;RHOH12 Aplysia ras-related homolog 12;OTTHUMP00000210767;OTTHUMP00000210783;OTTHUMP00000210785;h12;oncogene RHO H12;ras homolog gene family, member A;rho cDNA clone 12;small GTP binding protein RhoA;transforming protein RhoA APPROVED protein-coding ENSG00000067560 667 01323 165390 VALIDATED 1316030 RHOG ras homolog family member G This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011] 11 11 p15.5-p15.4 3804784 3818789 - 3848208 3862213 - 634616;6480464;6907045 8325658 1620121;12879077;19208761;17875742;17570359;17027967;16621998;16568096;16339170;15199069;12545154;12477932;12376551;11909943;11689693;10713718;10523675;9614181;9177787;8939998;8464478;11368848;11162552;15620647;22383878;10648409;11604131;12730235;15761153;16188938;19730683;20056178;16712791;20679435;22505724;22251971;21139048;21890473;21906983;22683270 391 P84095;Q6ICQ8 AA424888;ABBA01032048;AC090587;AF498974;AMYH01003348;AY563952;BC104177;BC104178;BI196968;BT019872;BX359696;CB125569;CH471158;CR450335;CR542105;L11317;NM_001665;X61587 AAA60268;AAI04178;AAI04179;AAM21121;AAS75333;AAV38675;CAA43784;CAG29331;CAG46902;EAX02575;EAX02576;EAX02577;NP_001656;P84095 Hs.501728 1668089;1736832;1736834;1736836;1795392;2136534;2157387;2189761 ARHG_57;D11S2344;D11S2345;D11S2346;D11S4526;D1Bda69;G05404;WI-9059 ARHG;MGC125835;MGC125836 OTTHUMP00000014179;ras homolog gene family, member G (rho G);rho-related GTP-binding protein RhoG APPROVED protein-coding ENSG00000177105 672 01537 179505 VALIDATED 1345608 RHOQP1 ras homolog family member Q pseudogene 1 14 14 14 q21.3 29926519 29927159 + 49136341 49137181 + 50066691 50067331 + 319093 ABBA01018110;AL139099;AMYH01005712;NG_002478 2146981 SHGC-57967 ARHQP;RHOQP APPROVED pseudo 20003 INFERRED 3278535 RHOQP3 ras homolog family member Q pseudogene 3 2 2 q21.1 130684905 130687736 - 130968650 130971376 - 284988 ABBA01028234;AC018804;AMYH01011051;AMYH01011052;NG_022969 2180442 SHGC-32727 APPROVED pseudo 37837 INFERRED 3129723 RHOQP2 ras homolog family member Q pseudogene 2 2 2 q21.1 131919516 131937683 + 132203046 132221203 + 6480464 730041 AC073869;AMYH01011101;AMYH01011102;NG_023007 1339473 D7S528 APPROVED pseudo 37836 INFERRED 4891171 RHOT1P1 ras homolog family member T1 pseudogene 1 18 18 p11.21 14101382 14101714 + 14222007 14222339 + 100462813 ABBA01074044;AMYH01008855;AP001004;NG_026314 RHOT1P;RHOT3 APPROVED pseudo 23777 INFERRED 3051026 RHOT1P2 ras homolog family member T1 pseudogene 2 21 21 470612 470944 - 15309314 15309646 - 100462811 ABBA01057071;AMYH01012135;AP001466;NG_021988 APPROVED pseudo 37838 INFERRED 4108629 RHOT1P3 ras homolog family member T1 pseudogene 3 13 13 456523 456853 - 19411907 19412237 - 100462810 ABBA01068539;AL391382;AMYH01004934;NG_021958 APPROVED pseudo 37839 INFERRED 1352247 RHOF ras homolog family member F (in filopodia) 12 12 12 q24.31 121851908 121867844 - 120700043 120715977 - 122215660 122231594 - 1580863;6480464 11084341;18663754;15489334;14702039;12477932;16341674;20233848;21139048;22251971;22260703;19322201 54509 F5GXB1;Q9HBH0 ABBA01020183;AC084018;AF239923;AK000254;AK130459;AK289482;AMYH01004816;BC018208;BC018721;BC032529;BC043395;BG574506;BM830620;BQ053707;BQ422695;BU527972;CA426077;CH471054;CS026797;NM_019034 AAG24952;AAH18208;BAA91034;BAF82171;CAI61864;EAW98278;EAW98279;NP_061907;Q9HBH0 Hs.644504;Hs.707579;Hs.717201 1661033;1746767;1797072;2124671;5014740;5015861;5015961;5016478;5020948;5022200;5022322;5022651;5037552;7185938 A004O17;ARHF;D10S16;D11S2560;D11S2921;D15S1477;D17S610;D8S2279;G35510;G64765;GDB:434012;L18426;SHGC-33451 ARHF;FLJ20247;RIF OTTHUMP00000240047;ras homolog gene family, member F (in filopodia);rho family GTPase Rif;rho in filopodia;rho-related GTP-binding protein RhoF APPROVED protein-coding ENSG00000139725 15703 15246 VALIDATED 1312711 RHOC ras homolog family member C This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 1 1 p13.1 113045272 113051548 - 113243749 113250025 - 1580863;2298873;2298874;6480464 12808121;12237774 17897917;18211678;17896152;18058225;17696235;17549441;17497936;17265125;17018591;16899593;16710414;16511001;16189514;15969750;15864301;15668138;15642170;15501444;15489334;15146197;15020670;14702039;14614010;14555841;12970882;12939257;12756732;12477932;12221096;12090470;11839578;11546812;10952316;10436159;8889548;8468062;15670823;17353931;12761501;19421144;19222696;19157876;19152186;19094228;19016761;18980974;18794150;18415097;8816443;8662891;8543060;7989340;7835413;3888408;3283705;1383236;21319273;19701800;21242305;21576392;18478927;19462897;19477269;19499974;19642867;19861405;19911011;19953094;20014943;20056178;20101212;20403997;8617235;20232393;20503409;20828398;19107362;21159255;22939629;22992742;21087931;21208644;23382905;23036489;16236794;21537845;21575520;21079653;22190034;22505724;21757538;21862636;23145020;21139048;21890473;20460433;22217540;21732343;22057916;22293682;22896661;23319595;22911725;22935975;21963094;22304920;22673745;23000965;21674277 389 E9PLA2;E9PN11;E9PQH6;P08134;Q5JR05;Q5JR06;Q5JR07;Q5JR08 ABBA01068416;AF085893;AF498972;AK094474;AL603832;AMYH01000949;BC007245;BC009177;BC052808;BQ231012;BT019448;BX648784;CA307508;CB851337;CH471122;CN289691;CR450360;CS026595;CX872299;L25081;NM_001042678;NM_001042679;NM_175744;X06821 AAC33179;AAH07245;AAH09177;AAH52808;AAM21119;AAV38255;ABM84097;ABM87469;BAG52873;CAA29969;CAG29356;CAI61764;EAW56534;EAW56535;EAW56536;EAW56539;NP_001036143;NP_001036144;NP_786886;P08134 Hs.502659;Hs.658289 1775962;1777258;2218240 ARHC_2499;SHGC-33509;SHGC-75332 ARH9;ARHC;H9;MGC1448;MGC61427;RHOH9 OTTHUMP00000013675;OTTHUMP00000013676;OTTHUMP00000013802;OTTHUMP00000013803;OTTHUMP00000013804;OTTHUMP00000013805;OTTHUMP00000013806;OTTHUMP00000013807;OTTHUMP00000013809;OTTHUMP00000229713;OTTHUMP00000229714;RAS-related homolog 9;oncogene RHO H9;ras homolog gene family, member C;rho cDNA clone 9;rho-related GTP-binding protein RhoC;rhoC GTPase;small GTP binding protein RhoC APPROVED protein-coding ENSG00000155366 669 01322 165380 REVIEWED 1321483 RHOJ ras homolog family member J This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011] 14 14 14 q23.2 43721815 43809227 + 62740898 62828312 + 63671102 63760230 + 1580863;6480464 10967094;15761153;15710388;15489334;15304341;14702039;12960428;12477932;21148427;17207965;20379614;23029280;22971344;22103495;21628409 57381 G3V476;G3V4H1;Q7Z513;Q9H4E5 AB209218;ABBA01018322;AF087862;AF309563;AF498977;AJ276567;AK027278;AK027351;AL049871;AMYH01005792;BC025770;BC062575;BM555132;CH471061;NM_020663 AAH62575;AAL09440;AAM21124;AAP97172;ADQ32562;BAB55013;BAB55055;BAD92455;CAC06611;EAW80820;EAW80821;EAW80822;EAW80823;EAW80824;NP_065714;Q9H4E5 Hs.656339 1674985;1854631;2128400;2150336;2158206;2163329;2219006;5015861;5022651;7185938 ARHJ_4040;D10S16;D11S2921;D14S1151;G35452;RH65935;RH69284;RH77820;STS-AA011182 ARHJ;FLJ14445;MGC34777;RASL7B;TC10B;TCL OTTHUMP00000179059;OTTHUMP00000245214;RAS-like, family 7, member B;TC10-like Rho GTPase;ras homolog gene family, member J;ras-like protein family member 7B;rho-related GTP-binding protein RhoJ;tc10-like GTP-binding protein APPROVED protein-coding ENSG00000126785 688 09632 607653 VALIDATED 1347334 RHOU ras homolog family member U This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011] 1 1 q42.11-q42.3 226937492 226949034 + 228780394 228882416 + 1580863;6480464 14521508;22773346;15350535;18086875;19064640;18849993;17504809;16751668;15556869;14731133;14702039;12477932;11894124;11459829;20547754;19135548;20844546;16344560;21565175;22349824;21508312;23259602;23300278 58480 Q7L0Q8 AB051826;AB074878;AB209511;ABBA01013454;ABBA01013455;ABBA01013456;AF211836;AF251701;AF282258;AF378087;AI094830;AK001478;AK289971;AL096776;AL713899;AMYH01001799;AMYH01001800;AMYH01001801;AMYH01001802;AMYH01001803;AMYH01001804;AMYH01001805;BC040076;CH471098;DA321957;DQ384420;DQ384421;DQ384422;DQ384423;DQ384424;DQ384425;GN344107;HI574064;NM_021205;NR_037962 AAG46058;AAH40076;AAK83340;AAL54874;AAL99390;ABD48870;ABD48871;ABD48872;ABD48873;ABD48874;ABD48875;BAB18638;BAB86361;BAD92748;BAF82660;CAY55989;CBX47521;EAW69885;EAW69886;NP_067028;Q7L0Q8 Hs.647774 1795396;1855643;1855645;2112372;2141593;2161568;2162118 A006F10;AL009642;ARHU_1572;D1S3637;G20757;RH12492;SHGC-23983 ARHU;CDC42L1;DJ646B12.2;FLJ10616;WRCH1;fJ646B12.2;hG28K 2310026M05Rik;CDC42-like GTPase 1;GTP-binding protein SB128;GTP-binding protein like 1;GTP-binding protein-like 1;OTTHUMP00000036026;Ryu GTPase;ras homolog gene family, member U;ras-like gene family member U;rho GTPase-like protein ARHU;rho-related GTP-binding protein RhoU;wnt-1 responsive Cdc42 homolog 1 APPROVED protein-coding ENSG00000116574 17794 06965 606366 REVIEWED 1316925 RHOH ras homolog family member H The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013] 4 4 p13 39874922 39922676 + 40198527 40246281 + 1580863;6480464 22474251;11809807;15670823;19414807;18691253;18559497;17476282;17443219;16541139;16344560;15761153;15563831;15489334;12477932;11368848;11032736;9226377;7784061;16169070;19847197;19950172;20379614;18029348;20738848;20851766;21473742;22505724;22689994;21841780;10803463;11460166;14702039;15300248;16965962;17028588;17035353;17064668;19019431;20184954;21103055;22850876 399 D6R8Z1;D6RA52;D6RG23;Q15669;Q6ICP4 AA767445;ABBA01004159;ABBA01004160;AC095057;AF498975;AI865435;AK097117;AK313744;AMYH01014126;AW402442;AY673952;AY673953;AY673954;AY673955;AY673956;BC014261;BG025818;BI818548;BI908453;BM457874;BU934664;BX413967;CA447396;CD703012;CH471069;CQ834136;CQ834138;CR450349;DA383563;DA815617;DA906265;DA950405;DA951252;DB115332;DB119883;NG_033255;NM_001278359;NM_001278360;NM_001278361;NM_001278362;NM_001278363;NM_001278364;NM_001278365;NM_001278366;NM_001278367;NM_001278368;NM_001278369;NM_004310;Z35227 AAH14261;AAM21122;ABM83555;ABM86793;BAG36484;CAA84538;CAG29345;CAH05283;CAH05284;EAW92960;EAW92961;EAW92962;NP_001265288;NP_001265289;NP_001265290;NP_001265291;NP_001265292;NP_001265293;NP_001265294;NP_001265295;NP_001265296;NP_001265297;NP_001265298;NP_004301;Q15669 Hs.654594 1341020;1669435;1795394;2126203;5015339;5016478;5020740;5037552;5037554;5118506;7187101 ARHH_59;D11S3374;D4S190;D4S3233;D8S2279;D8S2282;GDB:434012;L17809;STS-AA011489;STS-Z35227 ARHH;TTF GTP-binding protein TTF;OTTHUMP00000125213;OTTHUMP00000218532;OTTHUMP00000218533;OTTHUMP00000218534;OTTHUMP00000218535;OTTHUMP00000218536;TTF, translocation three four;ras homolog gene family, member H;rho-related GTP-binding protein RhoH;translocation three four protein APPROVED protein-coding ENSG00000168421 686 03616 602037 REVIEWED 1604729 RHOV ras homolog family member V 15 15 15 q13.3 17932315 17934390 - 38952194 38953731 - 41164412 41166487 - 6480464 22339630;17355222;17035353;15664990;12477932;11956592;11839775;9778532;22589738 171177 Q05D03;Q96L33 AB079131;ABBA01038428;AC025166;AMYH01006566;AY059636;BC019353;BC105020;BC105022;BC112945;CH471125;NM_133639 AAH19353;AAI05021;AAI05023;AAI12946;AAL17966;BAB86363;EAW92459;EAW92460;NP_598378;Q96L33 Hs.447901 5493823 UniSTS:495147 ARHV;CHP;WRCH2 CDC42-like GTPase 2;GTP-binding protein-like 2;OTTHUMP00000160629;Rho GTPase-like protein ARHV;WRCH-2;WRCH1-related GTPase;Wnt-1 regulated Cdc42 homolog 2;Wnt-1 responsive Cdc42 homolog 2;ras homolog gene family, member V;rho-related GTP-binding protein RhoV APPROVED protein-coding ENSG00000104140 18313 10191 VALIDATED 1626578 RHOXF2B Rhox homeobox family, member 2B X X q24 119090257 119095735 - 119206229 119211707 - 727940 P0C7M4 AC005023;AC240732;AMYH01022887;AMYH01022888;AMYH01022889;AMYH01022890;AMYH01022891;AMYH01022892;AMYH01022893;AMYH01022894;AMYH01022895;AMYH01022896;AMYH01022897;AMYH01022898;AMYH01022899;NM_001099685;XM_003960835 NP_001093155;P0C7M4;XP_003960884 Hs.196956 1787378;2219488 PEPP-2__5666;SHGC-171749 OTTHUMP00000023931;PEPP subfamily gene 2-like;rhox homeobox family member 2B protein-coding 33519 PROVISIONAL 1345983 RHOQ ras homolog family member Q This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011] 2 2 p21 46623371 46665331 + 46769867 46811827 + 1580863;6480464;6484113;6907045 2108320;10445846;11309621;19258391;18660489;16950130;16246732;15546864;15489334;15194684;14702039;12972548;12687004;12529401;12508121;12477932;12456725;12242347;12134073;11821390;11162552;11149925;10934474;10490598;15304341;15361624;10967094;20416077;21139048;19322201 23433 E5RFZ3;F8WET9;H0YB40;H0YB93;P17081 ABBA01075139;AC018682;AF498976;AK095329;AMYH01010316;AMYH01010317;BC013135;BC033251;BC056154;BC065291;BC070485;BC093805;BC101806;BU928962;CH471053;M31470;NM_012249 AAA36547;AAH56154;AAH65291;AAH70485;AAH93805;AAI01807;AAM21123;AAY14834;EAX00246;EAX00247;EAX00248;EAX00249;EAX00250;EAX00251;NP_036381;P17081 Hs.709193 1665193;1701364;1713245;1725825;1775730;1784138;2180442;5024163;5109769;5114478;5115020 D14S659E;D2S2603;G27364;G62001;RH104312;RH120612;RH78810;SHGC-154607;SHGC-32727;SHGC-59789;WI-7257 ARHQ;RASL7A;TC10;TC10A OTTHUMP00000198143;RAS-like, family 7, member A;ras homolog gene family, member Q;ras-like protein TC10;ras-like protein family member 7A;rho-related GTP-binding protein RhoQ APPROVED protein-coding 17736 05791 605857 VALIDATED 1315969 RHOT1 ras homolog family member T1 17 17 17 q11.2 27380006 27463684 + 27493586 27576859 + 30469473 30552746 + 6480464 16630562;19135897;12482879;19103291;19098100;16381901;15489336;15489334;15146197;14702039;14521508;12477932;11230166;11076863;20379614;20877624;22860091;23060438;21343306;21903422;22078885;21139048;21890473;17110338;23000965;23251661;22396657;22505724;22797925;19528298 55288 H7BXZ6;J3KRG7;J3KSR5;J3KSX7;J3QLG2;J3QSG2;K7EIQ7;K7EP86;Q6YMW8 ABBA01000702;ABBA01000703;ABBA01000704;ABBA01000705;ABBA01000706;ABBA01000707;ABBA01000708;ABBA01000709;AC026620;AC116407;AJ496730;AJ517412;AK001902;AK022695;AK294407;AL117543;AL136929;AMYH01008330;AMYH01008331;AMYH01008332;AMYH01008333;AY094972;BC015698;BC029029;BC041114;BC051818;BC060781;BC068463;BC092401;BC110895;BC125104;BC125105;CH471147;CN352790;NM_001033566;NM_001033568;NM_018307 AAH15698;AAH41114;AAH51818;AAH60781;AAH68463;AAI25105;AAI25106;AAI46695;AAM15734;BAA91969;BAB14185;BAG57659;CAB66863;CAD43139;CAD56956;CAL38085;EAW80242;EAW80243;EAW80244;EAW80245;EAW80246;EAW80247;EAW80248;EAW80249;EAW80250;EAW80251;NP_001028738;NP_001028740;NP_060777;Q8IXI2 Hs.655325 1670612;1708082;1734448;1764129;1768264;1789018;1855652;2115477;2153396;5024543;5093746 A009V48;Cda0nc06;D17S1416E;D1S3690;G32899;G65642;RH17565;SHGC-147776;SHGC-31220;SHGC-32151;SHGC-81439 ARHT1;FLJ11040;FLJ12633;MIRO-1;MIRO1 hMiro-1;mitochondrial Rho (MIRO) GTPase 1;mitochondrial Rho 1;mitochondrial Rho GTPase 1;rac-GTP binding protein-like protein;rac-GTP-binding protein-like protein;ras homolog gene family, member T1 APPROVED protein-coding ENSG00000126858 21168 15247 613888 VALIDATED 3129784 RHPN2P1 rhophilin, Rho GTPase binding protein 2 pseudogene 1 15 15 q11.1 18693090 18747329 - 20433870 20482347 - 16572171 646090 A8MT19 AC126603;AMYH01006135;AMYH01006136;NG_023012 A8MT19 1792350 PMC149355P2 pseudo 37708 INFERRED 1603173 RHOXF1 Rhox homeobox family, member 1 This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012] X X X q24 119708916 119715939 + 119127053 119133875 - 119243025 119249847 - 6480464 12490318;11980563;16713569;16189514;15772651;15489334;15231747;12477932;20211142;16244364;19679824;21609483 158800 Q8NHV9 ABBA01049629;ABBA01049630;ABBA01049631;AC005023;AC240732;AMYH01022903;AY099086;BC069324;BC069529;BC103857;BC103858;BE675048;CH471161;NM_139282 AAC78617;AAH69324;AAH69529;AAI03858;AAI03859;AAM22794;ABZ92380;EAW89834;NP_644811;Q8NHV9 Hs.644617 1701850 DXS7848 MGC119030;MGC119033;OTEX;PEPP1 OTTHUMP00000023932;PEPP subfamily gene 1;ovary-, testis- and epididymis-expressed gene protein;paired-like homeobox protein OTEX;paired-like homeobox protein PEPP-1;rhox homeobox family member 1 protein-coding ENSG00000101883 29993 02345;15954 300446 REVIEWED 1626588 RHOXF2 Rhox homeobox family, member 2 X X X q24 119660839 119666305 - 119176495 119181961 + 119292467 119297933 + 6480464 15231747;16189514;15489334;14702039;12490318;12477932;16713569;19060904;19447967;20211142;21874235;22136300;21988730;23682428 84528 Q9BQY4 ABBA01049621;AC002086;AC240549;AF317219;AK058125;AL590524;AL590526;AMYH01022908;AMYH01022909;BC021719;CH471161;NM_032498 AAH21719;AAL02160;ABM81918;ABM85095;BAB71675;CAC36517;CAC36519;EAW89836;NP_115887;Q9BQY4 Hs.567620 1787378;2219488 PEPP-2__5666;SHGC-171749 CT107;PEPP-2;PEPP2;THG1 OTTHUMP00000023933;OTTHUMP00000245264;PEPP subfamily gene 2;cancer/testis antigen 107;homeobox protein from AL590526;paired-like homeobox protein PEPP-2;rhox homeobox family member 2;testis homeobox gene 1 protein-coding ENSG00000131721 30011 300447 PROVISIONAL 1347429 RHOT2 ras homolog family member T2 This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011] 16 16 16 p13.3 918290 924328 + 658134 664172 + 718083 724174 + 6480464 16630562;12482879;19098100;15489334;15231748;15218247;14702039;14521508;12477932;11157797;20877624;21963094;22053931;23000965;23446634;22939629;23060438;19528298;21875946;22078885;21139048;21890473;21906983;22318606;22505724;22797925 89941 H3BMP9;H3BP40;H3BST5;H3BU27;H3BUX4;H3BVI5;I3L2C6;Q8IXI1 ABBA01030358;ABBA01030359;AE006464;AJ517413;AK024450;AK090426;AK308984;AL834163;AMYH01006999;AY207375;BC004327;BC014942;CH471112;DB465261;HC250975;HC311164;NG_031824;NM_138769;Z92544 AAH04327;AAH14942;AAK61240;AAP46090;BAB15740;BAC03407;CAD56957;CBJ05785;CBJ21237;EAW85763;EAW85764;EAW85765;EAW85766;EAW85767;EAW85768;NP_620124;Q8IXI1 Hs.513242 1682311;1686861;1689853;2126835;2126837;5016927 A005Y21;G20595;RH36857;RH75694;RH80151;RH91159 ARHT2;C16orf39;MIRO-2;MIRO2;RASL OTTHUMP00000149943;hMiro-2;mitochondrial Rho (MIRO) GTPase 2;mitochondrial Rho 2;mitochondrial Rho GTPase 2;ras homolog gene family, member T2 APPROVED protein-coding ENSG00000140983 21169 15248 613889 REVIEWED 1351194 RIBC2 RIB43A domain with coiled-coils 2 22 22 22 q13.31 29720957 29739621 + 44188244 44206966 + 45809574 45828296 + 737633;6480464 12477932 15489334;18029348;16189514;15461802;10591208;8125298;16169070;21145461 26150 F5GZV2;Q9H4K1 ABBA01007137;AK098586;AK225722;AL021391;AL050075;AL442116;AMYH01012849;BC003024;BC009904;CH471138;CR456438;CR457398;NM_015653 AAH03024;AAH09904;CAB43258;CAC09526;CAG30324;CAG33679;CAK54429;CAK54728;EAW73384;NP_056468;Q9H4K1 Hs.475110 1663195;2111976 D22S1596;RH65547 C22orf11 OTTHUMP00000199849;RIB43A-like with coiled-coils protein 2 protein-coding ENSG00000128408 13241 11493 VALIDATED 1313863 RHPN1 rhophilin, Rho GTPase binding protein 1 8 8 8 q24.3 140761326 140776245 + 144522400 144537533 + 144451025 144466390 + 1580863;6480464 16189514;15489334;14749388;12477932;12221077;11572484;10591629;19403673 114822 Q8TCX5 AB067516;ABBA01005258;ABBA01005259;ABBA01005260;AC087793;AC105118;AMYH01019104;AY082588;BC012135;BC025767;BX341691;CH471162;NM_052924 AAH25767;AAL89809;BAB67822;EAW82251;EAW82252;EAW82253;EAW82254;EAW82255;EAW82256;NP_443156;Q8TCX5 Hs.521912 KIAA1929;ODF5;RHOPHILIN;RHPN GTP-Rho-binding protein 1;OTTHUMP00000228179;outer dense fiber of sperm tails 5;rhophilin 1;rhophilin-1 protein-coding ENSG00000158106 19973 17973 601031 VALIDATED 2303431 RHPN1-AS1 RHPN1 antisense RNA 1 (head to head) 8 8 8 q24 140759094 140761106 - 144521033 144522174 - 144448793 144450805 - 6480464 16344560;15489334;12477932;8889548 78998 Q9BWJ2 ABBA01005260;AC087793;AK026503;AMYH01019104;BC000203;BI829214;BM685262;BM968345;CH471162;DA327076;NR_026785 EAW82257;Q9BWJ2 Hs.245886;Hs.618477 C8orf51;MGC3113 APPROVED miscrna ENSG00000254389 28457 08328 VALIDATED 1351547 RIEG2 Rieger syndrome 2 7240710 6012 10015 1318093 RHPN2 rhophilin, Rho GTPase binding protein 2 This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009] 19 19 19 q13.11 30163089 30249415 - 38161338 38247634 - 33469498 33555824 - 1580863;6480464 17353931;19011631;16777052;15761153;15489334;14702039;12477932;12473120;12221077;12773565;14749388;15778465;20530476;20638935;20648012;20659471;21071539;20437058;20501757;21139048;21963094;21988832;23251661 85415 B3KX27;B4DUS7;K7EL35;Q8IUC4 ABBA01039606;ABBA01039607;ABBA01039608;ABBA01039609;AC008521;AC011449;AC093069;AF268032;AF423421;AJ347750;AK026894;AK095001;AK098246;AK126506;AK300775;AK315105;AL831950;AMYH01009698;BC036447;DC348657;NM_033103 AAH36447;AAK58588;AAQ04062;ABM83037;ABM86231;BAC04471;BAG37565;BAG53600;BAG54339;BAG62439;CAC87939;CAD38597;NP_149094;Q8IUC4 Hs.466435 1337298 D19S555 P76RBE;RHOBP 76 kDa RhoB effector protein;GTP-Rho-binding protein 2;rhophilin 2;rhophilin-2;rhophilin-like Rho-GTPase binding protein APPROVED protein-coding ENSG00000131941 19974 10192 REVIEWED 1344064 RIBC1 RIB43A domain with coiled-coils 1 X X X p11.22 57281396 57289616 + 53466564 53474784 + 53449834 53458063 + 1580863;6480464 15772651;15489334;14702039;12477932;18252223;8889548 158787 Q8N443 ABBA01056416;AC233728;AK057345;AK290346;AK292871;AK304179;AMYH01022423;BC036767;BM978850;CH471154;NG_033076;NM_001031745;NM_001267053;NM_144968;Z97054 AAH36767;ADR83313;BAB71438;BAF83035;BAF85560;BAG65059;CAI42648;CAI42649;CAI42650;EAW93152;EAW93153;EAW93154;EAW93155;EAW93156;NP_001026915;NP_001253982;NP_659405;Q8N443 Hs.351743 1699782;2137556;2159480 RH103498;RH1705;SHGC-31766 2610028I09Rik;FLJ32783;MGC46233 OTTHUMP00000023353;OTTHUMP00000023354;OTTHUMP00000023355;RIB43A-like with coiled-coils protein 1 protein-coding ENSG00000158423 26537 06553 VALIDATED 1606245 RIC3 RIC3 acetylcholine receptor chaperone The protein encoded by this gene promotes functional expression of homomeric nicotinic acetylcholine receptors at the cell surface. It enhances currents generated by these receptors by expediting receptor transport to the cell surface and by increasing receptor number. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 p15.4 8087071 8147148 - 8127597 8190590 - 6480464 18691158;18471073;18246096;18208544;18179477;17609200;17192664;16344560;16120769;15927954;15809299;15504725;14702039;12975309;12821669;12477932;19913121;20522555;20628086;8889548;23153976;22970690;17370265;21915095 79608 B7Z3Z0;D3DQU6;E9PK46;E9PKX8;E9PNI0;F5GZ89;Q9HAH8 ABBA01028687;AC091013;AC116456;AC129895;AK021670;AK022297;AK293933;AK296505;AK315379;AL390131;AL832601;AM422214;AMYH01003374;AY326435;AY326436;AY358475;BC022455;BQ941375;BX647514;CB850751;CH471064;DA186330;DC420812;DQ347704;DQ347705;NG_030416;NM_001135109;NM_001206671;NM_001206672;NM_024557;NR_045405 AAH22455;AAP92162;AAP92163;AAQ88839;BAB13871;BAG37772;BAH11630;BAH12376;CAD89943;CAM12309;EAW68627;EAW68628;EAW68629;EAW68630;EAW68631;NP_001128581;NP_001193600;NP_001193601;NP_078833;Q7Z5B4 Hs.231850;Hs.568986 2116278 WI-14382 AYST720;FLJ11608;PRO1385 OTTHUMP00000230769;OTTHUMP00000230770;OTTHUMP00000230800;OTTHUMP00000230802;OTTHUMP00000230803;protein RIC-3;resistance to inhibitors of cholinesterase 3 homolog;resistant to inhibitor of cholinesterase 3 APPROVED protein-coding ENSG00000166405 30338 17974 610509 REVIEWED 1605657 RIC8B RIC8 guanine nucleotide exchange factor B 12 12 12 q23.3 106833992 106948676 + 105692529 105807224 + 107168399 107283094 + 6480464 12477932;20205790;12652642;16344560;15489334;14702039;12509430;20133939;18029348 55188 B7WPL0;F8VR30;F8VSN5;F8VY51;H0YHS3;J3QRA4;Q9NVN3 ABBA01053161;ABBA01053162;AC007695;AC079385;AC090011;AK001482;AK128102;AMYH01004724;AY221116;BC034220;BC132689;BC144056;CB215722;CH471054;DA118965;DA325821;DA534432;NM_018157 AAH34220;AAI32690;AAI44057;AAO65923;BAA91717;EAW97785;EAW97786;EAW97787;NP_060627;Q9NVN3 Hs.131306 1335765;1651727;1712376;1712398;1754587;2122212;2137622;2219772 D12S330;G54214;G54226;RH70139;SGC33354;SHGC-132874;SHGC-53905;hSyn__6607 FLJ10620;MGC39476;RIC8;hSyn OTTHUMP00000185573;OTTHUMP00000185575;OTTHUMP00000233164;OTTHUMP00000242666;brain synembrin;brain synembryn;resistance to inhibitors of cholinesterase 8 homolog B;synembryn-B APPROVED protein-coding ENSG00000111785 25555 16452 609147 VALIDATED 1604802 RIC8A RIC8 guanine nucleotide exchange factor A 11 11 11 p15.5 343749 350332 - 198530 205113 + 208530 215113 + 6480464 16713569;16629901;16381901;16189514;15489336;15489334;14702039;12509430;12477932;11230166;11076863;10985349;8125298;16169070;12652642;21460842;20479129;21988832;23000965;22863883;21771786;21880739;21139048;21890473;22318606;22384181 60626 E9PI04;E9PLE5;E9PMP0;E9PSI0;H0YC88;H0YE35;H0YEN0;Q9H9E7 ABBA01011167;AC069287;AK022870;AK026897;AK027090;AK027461;AK225420;AK314568;AL136935;AL390088;AMYH01003275;BC011821;BC094717;BC111499;BC121807;BC121808;BX538115;CH471278;NM_021932 AAH11821;AAI11500;AAI21808;AAI21809;BAB14282;BAB15653;BAB55126;CAB66869;CAB98211;CAD98025;CAL38313;EAW61244;EAW61245;EAW61246;NP_068751;Q9NPQ8 Hs.592292 1694546;2161358;2163291;2169199;2169201 A001U35;A004P12;G19667;G43176;WI-19967 MGC104517;MGC131931;MGC148073;MGC148074;RIC8;synembryn OTTHUMP00000147610;OTTHUMP00000230135;OTTHUMP00000230136;resistance to inhibitors of cholinesterase 8 homolog A;synembryn;synembryn-A APPROVED protein-coding ENSG00000177963 29550 12373 609146 PROVISIONAL 1604194 RICTOR RPTOR independent companion of MTOR, complex 2 RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008] 5 5 p13.1 38973779 39110260 - 38938022 39074501 - 1625616;2308795;2307383;6480464;6484113;6907045 16885148;19339977;17110594 18339839;15268862;15718470;19402821;18505677;18089801;17461779;17329400;17043309;16962653;16959881;15467718;15302935;14702039;12477932;12056414;15809305;16919458;16603397;16183647;22544753;21177249;20501647;21170086;20832730;16221682;19145465;19341427;19724909;19934294;19995915;20412774;20819778;20427287;18776922;18831768;19018001;20226010;20338997;20438709;20978191;21343617;18235224;19322201;22384145;19875983;22990118;18566587;21795477;22084251;21339740;21963094;23000965;23297343;23455608;17565979;19446321;19619545;21321085;21045808;21987572;21139048;21890473;21906983;22285861;22318606;22080063;22777355;17386266;23067215;22505724;23251661 253260 D6R9S6;Q6R327 AB082530;ABBA01024204;ABBA01024205;ABBA01024206;ABBA01024207;ABBA01024208;AC008964;AC026713;AC109467;AK024327;AK094538;AK127305;AK128358;AL834497;AMYH01015043;AY515854;BC029608;BC051729;BC137163;BC137164;BC144509;CH471119;CR749280;NM_152756 AAH29608;AAH51729;AAI37164;AAI37165;AAI44510;AAS79796;ABM82598;ABM85784;BAC02708;CAD39155;CAH18135;EAW55978;EAW55979;EAW55980;NP_689969;Q6R327 Hs.407926 1673322;1717047;2127156;2169908;5014051;5015404;5015619;5016478;5020740;5020946;5020988;5022200;5022450;5022576;5022578;5022588;5024413;5037552;5109281 D10S275;D11S3114;D1S1361;D1S1423;D1S1425;D22S958;D5S1597E;D5S2422;D5S2570;D8S2278;D8S2279;G18152;GDB:434012;L17705;L17809;L17877;L17971;L18426;RH124086 DKFZp686B11164;KIAA1999;MGC39830;PIA;mAVO3 AVO3 homolog;OTTHUMP00000221128;OTTHUMP00000221129;TORC2-specific protein AVO3;hAVO3;pianissimo;rapamycin-insensitive companion of mTOR APPROVED protein-coding ENSG00000164327 28611 10682 609022 VALIDATED 1317025 RILP Rab interacting lysosomal protein This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011] 17 17 p13.3 1496194 1500142 - 1549444 1553392 - 737633;1580863;6480464;7240710 12477932 11179213;19564404;18922795;17959629;16857164;16631113;16417580;15996637;15933719;15498874;15489334;14702039;14668488;12944476;12621583;12475955;11696325;11520070;11448994;19913121;20628086;20877624;18272684;17010938;18552835;19286658;20012524 83547 I3L1U0;Q96NA2 ABBA01054669;AC130343;AF370391;AJ278711;AJ404317;AK055755;AK314767;AMYH01008001;AMYH01008002;BC004961;BC031621;CH471108;NG_033061;NM_031430 AAH04961;AAH31621;AAQ15227;ABM83393;ABM86606;BAB71003;BAG37305;CAC33443;CAC82174;EAW90595;NP_113618;Q96NA2 Hs.534497 1685748;2119014;2182446 RH41938;STS-T96691;STS-W58284 FLJ31193;PP10141 OTTHUMP00000115658;rab-interacting lysosomal protein APPROVED protein-coding ENSG00000167705 30266 09706 607848;612437 REVIEWED 1352449 RIF1 RAP1 interacting factor homolog (yeast) This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 2 2 2 q23.3 145880663 145948138 + 151974674 152040665 + 152266397 152333860 + 6480464 17081983;16964243;15583028;15342490;15302935;14702039;9110174;8619474;15383276;17118363;19483192;12477932;20677014;20562859;20936779;22939629;23022380;19343720;19471022;21139048;21693764;21890473;22321011;21252943;21628590;22586326;22850674;12753906;21150319;21382349;21963094;21988832;23000965;23080069;23143601;23333306;23383273;23486525 55183 B4DS49;C9J1D6;H7BZN3;H7C2B5;Q99772 ABBA01004770;ABBA01004771;ABBA01004772;ABBA01004773;AC009311;AC009497;AK000323;AK001461;AK022932;AK024033;AK074349;AK299291;AK299572;AL080129;AL137363;AMYH01011168;AY584066;AY585745;AY727910;AY727911;AY727912;AY727913;BC072675;BX648324;CH471058;CR933663;NG_017162;NM_001177663;NM_001177664;NM_001177665;NM_018151;U79263 AAB50209;AAI72393;AAS94233;AAT40745;AAV51401;AAV51402;AAV51403;AAV51404;BAA91705;BAB14313;BAB14792;BAB85058;BAG61306;BAG61511;CAB45727;CAI45961;EAX11507;EAX11508;EAX11509;EAX11510;NP_001171134;NP_001171135;NP_001171136;NP_060621;Q5UIP0 Hs.655671;Hs.735592 1690248;1713071;1739279;1769472;2110713;2162487;2171326 D2S1938E;RH11936;RH120323;RH68752;RH94042;Rif1__6890;SHGC-56421 DKFZp434D1026;DKFZp781N1478;FLJ12870 OTTHUMP00000162712;OTTHUMP00000207206;OTTHUMP00000207207;OTTHUMP00000207208;OTTHUMP00000207210;rap1-interacting factor 1 homolog;telomere-associated protein RIF1 APPROVED protein-coding ENSG00000080345 23207 10603 608952 REVIEWED 2302530 RIIAD1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 1 1 1 q21.3 124808643 124816701 + 149949533 149968694 + 151694013 151702082 + 6480464 16710414;14702039;12477932;8889548;20564261 284485 A6NNX1;C9JPK7 AA393535;ABBA01049403;AL589765;AMYH01001394;CH471121;CK300240;NM_001144956 A6NNX1;EAW53418;NP_001138428 Hs.297967 C1orf230;FLJ36032;NCRNA00166 OTTHUMP00000214004;RIIa domain-containing protein 1;RIIa domain-containing protein C1orf230;RIIa domain-containing protein ENSP00000357824 APPROVED protein-coding ENSG00000178796 26686 VALIDATED 2291768 RIMBP3B RIMS binding protein 3B 22 22 q11.21 20067663 20073767 + 21738040 21743458 + 18029348;17855024 440804 A6NNM3;J3KP05 AP000552;BX112696;DB455171;NM_001128635 A6NNM3;NP_001122107 Hs.568257 RIM-BP3.2;RIM-BP3.B;RIMBP3.2 OTTHUMP00000198553;RIMS binding protein 3.2;RIMS-binding protein 3.2;RIMS-binding protein 3B protein-coding ENSG00000196934 33891 612700 VALIDATED 2291772 RIMBP3C RIMS binding protein 3C 22 22 q11.21 20229646 20235750 - 21899955 21905750 - 17855024;8889548;19807924;18029348 150221 A6NJZ7;J3KP16 AMYH01012632;AMYH01012633;AMYH01012634;AMYH01012635;AMYH01012636;AP000557;BF513974;BU738457;NM_001128633 A6NJZ7;NP_001122105 Hs.447643 RIM-BP3.3;RIMBP3.3 OTTHUMP00000198566;RIM-BP3.C;RIMS binding protein 3.3;RIMS-binding protein 3.3;RIMS-binding protein 3C protein-coding ENSG00000183246 33892 612701 VALIDATED 4889769 RIMKLBP2 ribosomal modification protein rimK-like family member B pseudogene 2 1 1 192590978 192591764 - 219373254 219374040 - 100422371 ABBA01048098;AL360093;AMYH01001736;NG_027041 pseudo 39163 INFERRED 1352332 RIMKLP ribosomal modification protein rimK-like (E. coli) pseudogene 21 q22.12 36344228 36346267 + 10830953 54031 AP001724;NG_000912 pseudo 10016 1602163 RILPL1 Rab interacting lysosomal protein-like 1 12 12 12 q24.31 123551811 123614423 - 122522316 122584453 - 123955909 124018265 - 6480464 14702039;14668488;12477932;18029348;21139048 353116 F5H6W5;G8JLD1;Q5EBL4 ABBA01060401;ABBA01060402;ABBA01060403;ABBA01060404;ABBA01060405;ABBA01060406;ABBA01060407;ABBA01060408;AC055713;AC145423;AK096697;AK097550;AMYH01004840;BC041375;BC080626;BC089444;BX281699;BX359997;CH471054;NM_178314 AAH80626;AAH89444;BAC04845;EAW98415;EAW98416;NP_847884;Q5EBL4 Hs.530315 1660743;1685716;1697836;2127087;5015961;5016478;5016596;5020881;5037552;5106009 D15S1477;D8S2279;GDB:434012;GDB:631802;L17709;RH102443;RH91528;SHGC-146064;WI-10547;WI-15963 FLJ39378;GOSPEL;MGC105128;MGC99793;RLP1 OTTHUMP00000239189;RILP-like protein 1;rab-interacting lysosomal-like protein 1 protein-coding ENSG00000188026 26814 13435 614092 VALIDATED 1606943 RILPL2 Rab interacting lysosomal protein-like 2 12 12 12 q24.31 123492620 123513952 - 122465889 122487217 - 123899936 123921264 - 6480464 14668488;16189514;14702039;12477932;16169070;21145461;18029348 196383 Q969X0 AB085763;ABBA01060413;ABBA01060414;ABBA01060415;AC145423;AK054942;AK056934;AMYH01004838;BC013042;CH471054;NM_145058 AAH13042;ABM83505;ABM86722;BAB71313;BAC76826;EAW98411;NP_659495;Q969X0 Hs.488173 1657569;1722579;2107391;5022651;5037552;5109291 D11S2921;D1S1459;D8S2279;G60221;MGC7036__7728;RH46413 FLJ30380;FLJ32372;MGC7036;RLP2 RILP-like protein 2;p40phox-binding protein;rab-interacting lysosomal protein-like 2 protein-coding ENSG00000150977 28787 10084 614093 PROVISIONAL 1606822 RIMBP2 RIMS binding protein 2 12 12 12 q24.33 130494857 130616297 - 129446634 129568363 - 130880681 131002410 - 6480464 17855024;16112646;15489334;12477932;10748113;9205841;19615732;20379614;19389623;17370265;21078624;22005930 23504 F5H3X3;H0YFN4;O15034 AA911488;AB002316;ABBA01019810;ABBA01019811;ABBA01019812;AC063926;AI692410;AK307226;AMYH01004878;AMYH01004879;AY699979;BC007632;BM142295;BX641152;CH471054;NM_015347 AAH07632;ADZ15327;BAA20776;CAE46066;EAW98512;NP_056162;O15034 Hs.657441 1334609;1648101;1677582;1712715;1733512;1762835;1762877;1764253;1764505;1767593;1775674;1849611;2178770 D12S1405;D12S1599;D12S858;D6S1151E;HSC19B112;RH121054;RH44733;RH65276;SHGC-146606;SHGC-146640;SHGC-147873;SHGC-148107;WI-18492 KIAA0318;MGC15831;RBP2;RIM-BP2 OTTHUMP00000238667;RIM binding protein 2;RIMS-binding protein 2 protein-coding ENSG00000060709 30339 17183 611602 VALIDATED 2291774 RIMBP3 RIMS binding protein 3 22 22 q11.21 18835991 18841786 - 20455991 20461786 - 6480464 18029348;17855024;15489334;12477932;11258795;10591208;23128233 85376 J3KNY9;Q9UFD9 AB051453;ABBA01146565;AC023490;AL117509;AL133030;AMYH01012504;AMYH01012505;BC035246;HC007058;NM_015672 AAH35246;AAI67855;BAB33336;CAB55970;CAB61362;CBH19334;NP_056487;Q9UFD9 Hs.115429 DKFZp434H0735;KIAA1666;RIM-BP3;RIM-BP3.1;RIM-BP3.A;RIMBP3.1;RIMBP3A OTTHUMP00000197852;RIM-BP3;RIMS binding protein 3.1;RIMS-binding protein 3.1;RIMS-binding protein 3A protein-coding ENSG00000196622 29344 612699 VALIDATED 1606921 RIMKLA ribosomal modification protein rimK-like family member A 1 1 1 p34.2 41128424 41171853 + 42619064 42653437 + 42846468 42889900 + 6480464 16710414;15489334;12477932;17207965;20657015;21454531;21906983 284716 Q8IXN7 ABBA01023133;AL513331;AMYH01000550;BC039737;BX094947;CH471059;CS061180;DR000262;NM_173642 AAH39737;ADQ32504;CAI79368;EAX07161;NP_775913;Q8IXN7 Hs.420244 1657102;1700814;1720247;1735050;1763327;1773074;1773727;1848710;2115800;2137208;2140300;2153255;2153257;2166406;2175772;5022200 A005P13;D1S1819E;D1S2377;D1S2527;D1S3442;G20393;L18426;RH104032;RH123872;SHGC-147054;SHGC-74673;SHGC-74674;SHGC-74675;SHGC-74687;SHGC-74714;SHGC-74728 FAM80A;MGC47816;NAAGS;NAAGS-II;RP11-157D18.1 N-acetylaspartyl-glutamate synthetase A;N-acetylaspartylglutamate synthetase II;NAAG synthetase A;OTTHUMP00000008435;family with sequence similarity 80, member A;ribosomal protein S6 modification-like protein A protein-coding 28725 14656 VALIDATED 1606518 RIMKLB ribosomal modification protein rimK-like family member B 12 12 12 p13.31 10388117 10467384 + 8741785 8821054 + 8850518 8929787 + 6480464 16344560;15489334;12477932;10574462;21454531;20643647;16196087;21139048;21963094 57494 F5GZH5;F5H3V4;F5H552;Q9ULI2 AB033064;ABBA01012246;ABBA01012247;ABBA01012248;AC092490;AK302847;AMYH01004241;AW196581;BC006368;BC015879;BC021977;BC033793;CH471116;DA712243;NM_020734 AAH21977;AAH33793;BAA86552;BAH13820;EAW88609;EAW88610;EAW88611;NP_065785;Q9ULI2 Hs.504670 1671697;1671786;1749165 RH69356;SHGC-110854;STS-W57589 FAM80B;KIAA1238;NAAGS;NAAGS-I N-acetyl-aspartyl-glutamate synthetase B;N-acetylaspartyl-glutamate synthetase;N-acetylaspartyl-glutamate synthetase B;NAAG synthetase B;OTTHUMP00000238253;OTTHUMP00000238346;beta-citryl-glutamate synthase B;beta-citrylglutamate synthase B;family with sequence similarity 80, member B;ribosomal protein S6 modification-like protein B protein-coding ENSG00000166532 29228 13844 614054 VALIDATED 731818 RIMS1 regulating synaptic membrane exocytosis 1 The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] 6 6 q12-q13 72653371 73169229 + 72596406 73112845 + 68912;6480464;7240710 11438518 19240061;19156168;17237123;15746564;15302935;14702039;12871946;12659814;12620390;12578829;12477932;12391317;12163476;11797009;11438522;11438521;11438520;11438519;11343654;9634506;9205841;14734538;17353931;16722236;16344560;17474147;20125193;20379614;20801516;21331761;21402706;22248876 22999 B7Z7W2;B7Z9Z3;E5RGM0;E7ENC2;H0YBE7;H0YBU6;Q3ZCW0;Q8TDY9 AB002338;AB045726;AB051866;ABBA01040291;ABBA01040292;ABBA01040293;ABBA01040294;ABBA01040295;ABBA01040296;ABBA01040297;AF263305;AF263306;AF263307;AF263308;AF263309;AF263310;AK095726;AK293828;AK294868;AK295001;AK295177;AK296303;AK300503;AK300853;AK302571;AK308658;AK309185;AK311105;AK316108;AL034373;AL035633;AL160405;AL390056;AL445256;AL590011;AMYH01016420;AMYH01016421;AY190519;BC036608;BC151853;BC152435;CH471051;DA417361;DB168720;NG_016209;NM_001168407;NM_001168408;NM_001168409;NM_001168410;NM_001168411;NM_014989 AAG23162;AAG23163;AAG23164;AAG23165;AAG23166;AAG23167;AAH36608;AAI51854;AAI52436;AAI56412;AAI72482;AAO38848;BAA20798;BAB87121;BAB87242;BAH11605;BAH11906;BAH11945;BAH12000;BAH12309;BAH13295;BAH13358;BAH13748;BAH14479;EAW48787;EAW48788;EAW48789;EAW48790;EAW48791;EAW48792;EAW48793;EAW48794;EAW48795;EAW48796;NP_001161879;NP_001161880;NP_001161881;NP_001161882;NP_001161883;NP_055804;Q86UR5 Hs.485729 1334762;1336632;1656471;1696282;1705422;1709228;1719423;1723583;2154776;2155811;2155813;2173640;5022450 A005R44;B297ZG1;D10S275;D6S1625;D6S430;G20454;RH123246;RH123429;RH36025;SHGC-31710;SHGC-83774;SHGC-83791;SHGC-85801 CORD7;KIAA0340;MGC167823;MGC176677;RAB3IP2;RIM;RIM1 OTTHUMP00000016715;OTTHUMP00000016716;OTTHUMP00000016717;OTTHUMP00000016718;OTTHUMP00000016719;OTTHUMP00000016720;OTTHUMP00000224637;OTTHUMP00000224638;OTTHUMP00000224639;OTTHUMP00000224640;OTTHUMP00000224642;OTTHUMP00000224643;OTTHUMP00000224644;OTTHUMP00000224645;OTTHUMP00000224646;RAB3-interacting protein 2;RIM 1;rab-3-interacting molecule 1;rab-3-interacting protein 2;rab3-interacting molecule 1;regulating synaptic membrane exocytosis protein 1;rim1 protein APPROVED protein-coding ENSG00000079841 17282 09435 603649;606629 REVIEWED 1351338 RIMS2 regulating synaptic membrane exocytosis 2 8 8 8 q22.3 100699462 101452122 + 104582152 105334627 + 104512976 105266656 + 1580863;6480464 17474147;19199833;18490030;17081983;16192289;15489334;15342556;15146197;14660679;12871946;12620390;12578829;12477932;11598134;10707984;9872452;9110174;8619474;20379614;20520587;20363327;22248876 9699 D6RA03;D6RDY0;E5RI36;E9PFB6;F8W6W8;Q9UQ26 AB018294;ABBA01037640;ABBA01037641;ABBA01037642;ABBA01037643;ABBA01037644;ABBA01037645;ABBA01037646;ABBA01037647;AC007751;AC012213;AC090448;AC090686;AC107933;AF007156;AK126939;AK307790;AK308831;AMYH01018944;AP001572;AP002849;AY057119;AY057120;AY057121;BC018057;BC043144;BE220725;BP230765;CH471060;CN291844;CR749374;NM_001100117;NM_014677 AAC19157;AAH18057;AAH43144;AAL23679;AAL23680;AAL23681;BAA34471;BAG54403;CAH18227;EAW91888;EAW91889;EAW91890;EAW91891;NP_001093587;NP_055492;Q9UQ26 Hs.655271 1341757;1660814;1661875;1684782;1717633;1718001;1722321;1733572;1739955;1760613;1786628;1848764;2108899;2116526;2126663;2127265;2131537;2139539;2146197;2158715;2173715;2180501;2185327;5015619;5037552 D11S3114;D17S1777;D8S1096;D8S1176;D8S1496;D8S1580;D8S2279;D8S267;D8S475;G09518;G60227;RH122121;RH122617;RH15850;RH47978;RH48184;RH70204;RIMS2_8980;SHGC-144163;SHGC-145364;SHGC-1922;SHGC-30975;SHGC-34680;WI-12189;WIAF-1584 DKFZp781A0653;KIAA0751;OBOE;RAB3IP3;RIM2 OTTHUMP00000221236;OTTHUMP00000221239;OTTHUMP00000221240;OTTHUMP00000221241;OTTHUMP00000221242;RAB3 interacting protein 3;RIM 2;non-small cell lung cancer RimL3a protein;non-small cell lung cancer RimL3c protein;nuclear protein;rab-3-interacting molecule 2;rab-3-interacting protein 3;rab3-interacting molecule 2;regulating synaptic membrane exocytosis protein 2 protein-coding 17283 09436 606630 VALIDATED 1347880 RIMS3 regulating synaptic membrane exocytosis 3 1 1 1 pter-p22.2 39368745 39413732 - 40858939 40903915 - 41086352 41131324 - 633867;633421;1580863;6480464 12620390;10748113 18490030;17081983;16710414;15489334;12477932;9039502;19546099 9783 Q9UJD0 ABBA01023167;ABBA01023168;AL031289;AMYH01000537;AMYH01000538;AY326956;BC003103;CH471059;CK005853;D87074;NM_014747 AAH03103;AAQ01683;ABZ92281;BAA13243;EAX07206;EAX07207;NP_055562;Q9UJD0 Hs.654808 1654818;1771882 SHGC-36790;SHGC-74662 KIAA0237;NIM3;RIM3 OTTHUMP00000008622;OTTHUMP00000008623;RIM 3;RIM3 gamma;Rab-3 interacting molecule 3;rab-3-interacting molecule 3;regulating synaptic membrane exocytosis protein 3 protein-coding ENSG00000117016 21292 17976 611600 VALIDATED 1602985 RINL Ras and Rab interactor-like 19 19 19 q13.2 36160912 36171331 - 44050310 44060734 - 39358470 39368919 - 6480464 14702039;16344560;19913121;20628086;22291991 126432 M0QY08;M0QZ15;Q6ZS11 AA653541;AA779599;ABBA01040708;AC011455;AK124506;AK126119;AK127808;AK298327;AMYH01009789;BU196609;DA814564;NM_001195833;NM_198445 AAI52815;BAC87145;BAG60577;NP_001182762;NP_940847;Q6ZS11 Hs.446933 1335294;1664236;1734604;5015619;5015961;5037552;7187470 D11S3114;D15S1477;D19S613E;D7S511;D8S2279;WIAF-1625 FLJ44131;FLJ45909 ras and Rab interactor-like protein protein-coding ENSG00000187994 24795 13517 VALIDATED 1348032 RIN1 Ras and Rab interactor 1 11 11 q13.2 65856118 65860576 - 66099542 66104000 - 729747;1580863;6480464 9144171 15886098;22249975;17403676;7862125;19118546;19032933;18089779;17390061;16964243;16457816;15951569;15489334;12477932;11788587;11784866;11703925;9208849;3874369;1849280;15031288;10545207;21102429;19570984;19806790;21209314;21925717;22562267;22627834;21987572;22118674;21906983;21963094;21926972;18729074 9610 E7EM96;E9PMB8;E9PNR2;H0YCG8;Q13671 AB209445;ABBA01024083;AK295365;AK297757;AK301430;AMYH01003733;AP001107;BC014417;BG163919;BQ956294;CH471076;L36463;NM_004292 AAB67270;AAH14417;ABM84601;ABM86764;BAD92682;BAG60106;BAG62958;BAH12046;EAW74512;NP_004283;Q13671 Hs.1030 1337203;2219634 D13S1305;RIN1__5502 OTTHUMP00000235071;OTTHUMP00000235073;ras and Rab interactor 1;ras inhibitor 1;ras inhibitor JC99;ras inhibitor RIN1;ras interaction/interference protein 1 protein-coding ENSG00000174791 18749 05813 605965 VALIDATED 1314166 RIN2 Ras and Rab interactor 2 The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] 20 20 20 p11.22 19944265 20057119 + 19818210 19931100 + 19867165 19983103 + 1580863;6480464;7240710 11733506;1849280;16423831;14702039;12972505;12477932;11780052;11230166;19631308;20889312;20424861;8889548;16273093;21963094;17955473;19322201;23251661 54453 A1A4T0;E7EPJ1;Q8WYP3 AB060339;ABBA01054076;ABBA01054077;ABBA01054078;ABBA01054079;AI695804;AK026753;AK094884;AL049538;AL132821;AL136924;AMYH01011757;AMYH01011758;AMYH01011759;AMYH01011760;BC034698;BC128065;BM973182;CH471133;M37190;NG_016310;NM_001242581;NM_018993 AAA36553;AAI28066;BAB84317;BAG52947;CAB66858;EAX10216;EAX10217;NP_001229510;NP_061866;Q8WYP3 Hs.472270 1655673;1659272;1675391;1684134;1693392;1848676;2109759;2127599;2136358;2148744;2160862;2162155;7183699 A007G35;AL034508;D20S537E;RH36628;RH68568;RH81081;RH92093;RIN2_9785;STS-AA037230;STS-M37190;STS-R01084;Z94331 MACS;RASSF4 OTTHUMP00000030372;RAB5 interacting protein 2;RAS association (RalGDS/AF-6) domain containing protein JC265;RAS association domain family 4;RAS inhibitor JC265;RAS interaction/interference protein 2;ras and Rab interactor 2 APPROVED protein-coding ENSG00000132669 18750 15249 610222;613075 REVIEWED 1350639 RIMS4 regulating synaptic membrane exocytosis 4 20 20 20 q13.12 40089112 40147575 - 42813863 42872326 - 43380445 43438979 - 633867;1580863;6480464 12620390 15489334;14702039;12477932;11780052;20379614;21832049;21139048;22779921;23251661 140730 Q9H426 ABBA01052652;ABBA01052653;AK055698;AK095716;AK124626;AK126807;AL118522;AMYH01011934;AY326954;BC036612;BC104190;BC104191;BC112985;BU167487;BX648947;CH471077;NM_001205317;NM_182970 AAI04191;AAI04192;AAI12986;AAI60058;AAQ01681;EAW75897;EAW75898;EAW75899;NP_001192246;NP_892015;Q9H426 Hs.517065 1735012;1772184;2122342;2157158;2168038;2172411;2219632 A002B08;D20S1038;D20S590E;G18091;G18129;RH44302;RIMS4__5501 C20orf190;RIM 4;RIM-4;RIM4;RIM4-gamma;RIM4gamma;dJ781B1.3 OTTHUMP00000039719;RIM 4;RIM4 gamma;RIM4gamma;rab3-interacting molecule 4;regulating synaptic membrane exocytosis protein 4 protein-coding ENSG00000101098 16183 17977 611601 VALIDATED 5129413 RIOK3P1 RIO kinase 3 pseudogene 1 13 13 13 q22.2 56300990 56302785 + 74300530 74302525 + 75402630 75404425 + 122145 ABBA01021636;AL590063;AMYH01005211;NG_002288 1780312 G67149 APPROVED pseudo 39714 INFERRED 1314128 RIN3 Ras and Rab interactor 3 RIN3 is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases (see RAB5A; MIM 179512) (Kajiho et al., 2003 [PubMed 12972505]).[supplied by OMIM, Mar 2008] 14 14 14 q32.12 73032207 73209490 + 92049878 92225089 + 92980125 93155336 + 1580863;6480464 11733506;18486601;15489334;14702039;12972505;12508121;12477932;21623375;21546767;17474147;20379614;21586568;21150319;23185384;22810651;21900206 79890 G3V2I7;G3V534;H0YJ83;Q86U22;Q8TB24 AB060338;AB081753;ABBA01030452;ABBA01030453;ABBA01030454;AK021762;AK026092;AK074176;AK090451;AK096145;AK128338;AL136332;AL159141;AL832844;AMYH01005959;AMYH01005960;AMYH01005961;BC025248;BC032614;BC034153;BC070062;BX248258;CH471061;CR936654;NM_024832 AAH25248;AAH70062;BAB13888;BAB15357;BAB84316;BAB85002;BAC03432;BAC16513;BAC87390;CAD62586;CAI56792;EAW81490;EAW81491;EAW81492;EAW81493;EAW81494;EAW81495;EAW81496;EAW81497;EAW81498;EAW81499;NP_079108;Q8TB24 Hs.326822 1336663;1337100;1649099;1763939;1764823;1783070;1847751;2122148;2124564;2140129;2177272;5015861;5020948;5022383;5022578;5022588;5022651;5037552;5109281;7185938 D10S16;D11S1909;D11S2921;D14S973;D1S1423;D1S1425;D5S1597E;D5S2453;D8S2279;ECD04345;G35510;G35555;G35616;G35844;G36199;RH45925;SHGC-147602;SHGC-148390;SHGC-154047 DKFZp762H1613;FLJ11700;FLJ22439 OTTHUMP00000245412;RAB5 interacting protein 3;ras and Rab interactor 3;ras interaction/interference protein 3 APPROVED protein-coding ENSG00000100599 18751 11494 610223 VALIDATED 1353088 RING1 ring finger protein 1 This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008] 6 6 p21.3 33284264 33288477 + 33176286 33180499 + 1580863;6480464 15710417;16943429;9199346;18029348;19047128;18830248;17134822;16359901;15489334;15386022;15009096;14574404;12477932;12167701;12167161;12004135;11583618;11171983;10369680;9858531;9205114;7681583;1906426;16189514;10825164;14647293;19451220;19913121;20628086;19549727;19636380;20819778;20800574;12183370;17468742;17936708;19412891;19851445;16751658;14999091;21125401;20601937;20811636;21832049;22907436;23022380;19956605;18624398;21139048;21530438;21549307;21596310;21890473;22325352;22493164 6015 Q06587 ABBA01038138;AI828228;AK289355;AK297552;AK301010;AK301378;AL031228;AL645940;AL713971;AL844527;AMYH01016242;BC002922;BC051866;BI259576;BT007352;CH471081;CR547129;CR759733;CR759786;CR847841;NM_002931;Z14000 AAH02922;AAH51866;AAP36016;ABM83883;ABM87203;BAF82044;BAG59945;BAG62627;BAG62919;CAA20235;CAA78389;CAI95620;EAX03683;EAX03684;NP_002922;Q06587 Hs.631989 1645880;1660503;1770207;1798086;2114924;2158587 RH46773;RING1_2682;SGC35586;SHGC-31083;STS-R94868;STS-Z14000 RING1A;RNF1 E3 ubiquitin-protein ligase RING1;OTTHUMP00000029416;polycomb complex protein RING1;really interesting new gene 1 protein APPROVED protein-coding ENSG00000204227 10018 03624 602045 REVIEWED 1314499 RIOK1 RIO kinase 1 This gene includes two alternatively spliced transcript variants, which encode different isoforms. The function of this gene has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p24.3 8619806 8648013 + 7335061 7363269 + 7390062 7418270 + 6480464;6907045 16183636;15489334;15324660;14702039;12477932;12384809;21081503;21832049;21139048;21890473;22072790;19322201;23246001;23398456;23459592;18271526;23084401;23184937 83732 E9PFQ8;Q9BRS2;Q9H2L9 ABBA01022041;AF258661;AK054568;AK314467;AL138878;AL139095;AL834277;AMYH01016064;AY094356;BC000811;BC006104;CH471087;NM_031480;NM_153005 AAG44659;AAH06104;AAM15729;BAB70761;BAG37075;CAD38952;EAW55210;NP_113668;NP_694550;Q9BRS2 Hs.437474 1339819;1698084 D6S1640;RH102574 AD034;FLJ30006;MGC12903;RRP10;bA288G3.1 OTTHUMP00000015999;prematurely truncated due to insertion of intronic sequence;serine/threonine-protein kinase RIO1 APPROVED protein-coding ENSG00000124784 18656 17978 REVIEWED 1605055 RINT1 RAD50 interactor 1 7 7 7 q22.3 99977643 100013242 + 104959768 104995360 + 105172532 105208124 + 6480464 11096100;15029241;15272311;17699596;17470549;16600870;16571679;15489334;14702039;12853948;12477932;9847074;16169070;16713569;18029348;19369418;22939629;20360068;21139048;15824131;21963094;23074196 60561 C9J5S3;F8WAZ2;F8WC46;F8WDC5;Q6NUQ1 AACC02000004;ABBA01057944;ABBA01057945;ABBA01057946;AC073073;AF317622;AK021847;AK055508;AK057757;AK308126;AL832825;AMYH01017819;BC007120;BC068483;CH236947;CH471070;NM_021930 AAG42101;AAH07120;AAH68483;AAQ96849;AAQ96850;ADR82734;BAB13910;BAG51530;EAW83366;EAW83367;NP_068749;Q6NUQ1 Hs.531388 DKFZp667H2324;RINT-1 OTTHUMP00000212078;RAD50-interacting protein 1;hsRINT-1 protein-coding ENSG00000135249 21876 15250 610089 VALIDATED 1342902 RIPK3 receptor-interacting serine-threonine kinase 3 The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008] 14 14 q11.2 23875067 23879082 - 24805227 24809242 - 1580863;6480464 10339433;10358032;19524512;18533105;18025550;17827388;17114179;16844082;16429275;16344560;15896315;15208320;15064760;12477932;11734559;10818227;21052097;20634891;19524513;19690434;20354226;21153365;23071110;22864571;15814722;18442983;18941233;19590578;20413098;21894190;21903422;21931591;22421439;22817896 11035 H0YJN5;Q9Y572 ABBA01061341;AF156884;AK075275;AK296140;AK296309;AL096870;AMYH01005611;AY453693;AY494982;AY494983;BC041668;BC062584;BE676675;CH471078;DB274842;NM_006871 AAD39005;AAH62584;AAS16359;AAS75516;AAS75517;BAG58881;BAG59007;EAW66021;EAW66022;NP_006862;Q9Y572 Hs.268551 1679333 RH91896 RIP3 OTTHUMP00000164791;RIP-3;RIP-like protein kinase 3;receptor interacting protein 3;receptor-interacting protein 3;receptor-interacting serine/threonine-protein kinase 3 APPROVED protein-coding ENSG00000129465 10021 09315 605817 REVIEWED 1323125 RIOK2 RIO kinase 2 5 5 5 q15 92380971 92403748 - 96524397 96544700 - 96496571 96519005 - 1580863;6480464;6907045 19564402;17081983;16344560;16183636;15489334;14702039;12477932;8125298;19578876;21832049;22939629;21880710;21139048;21906983;21963094;21988832;22113938;23459592;21048991;22505724 55781 D6RB96;H0Y8R4;H0Y919;Q9BVS4 ABBA01069223;ABBA01069224;AC008865;AC008883;AK001697;AK002021;AK225348;AMYH01015491;AMYH01015492;BC000953;CA415109;CH471084;DB240299;NM_001159749;NM_018343 AAH00953;BAA91844;BAA92040;EAW96088;NP_001153221;NP_060813;Q9BVS4 Hs.27021 1664179;1685998;2173803 D5S1837;D5S1936;RH94324 FLJ11159;RIO2 OTTHUMP00000158911;OTTHUMP00000222868;serine/threonine-protein kinase RIO2 APPROVED protein-coding ENSG00000058729 18999 10193 VALIDATED 1318761 RIPPLY3 ripply transcriptional repressor 3 21 21 21 q22.2 23577251 23590347 + 37300733 37313829 + 38378863 38391959 + 6480464 10814524;10830953;22354841 53820 P57055 AB037158;AB037159;AB037160;AB037161;ABBA01057409;AMYH01012231;AP000704;CH471079;NM_018962 AAI46276;AAI56712;BAA96867;BAA96868;BAA96869;BAA96870;EAX09729;EAX09730;NP_061835;P57055 Hs.254560 5022322;5037552 D11S2560;D8S2279 DSCR6;RIPPLY3 Down syndrome critical region gene 6;OTTHUMP00000109050;down syndrome critical region protein 6;protein ripply3;ripply3 homolog APPROVED protein-coding ENSG00000183145 3047 10923 609892 VALIDATED 1320896 RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 6 6 p25.2 3022057 3060420 + 3077058 3115421 + 1580863;2292150;5685014;6480464;6484113;6907045 12655295;21235323 8612133;9044836;7538908;10356400;17979836;14644197;10521396;12761501;16507998;7758105;12692549;12887920;15064760;11101870;19453261;19336552;19219602;19151112;18990758;18941233;18813792;18635966;18621737;18570872;18450748;18442983;18178551;18067272;17996648;17951993;17638906;17448597;17389591;17306544;17301840;17296724;17235653;16825191;16611992;16603398;16543241;16260783;16127453;15572679;15489334;15144186;15121855;14702039;14574404;14532286;12477932;11854271;11479302;11429546;11369754;11116146;11002422;11002417;10880512;10837247;10744744;10409763;10358032;10339433;9927690;9740801;9430227;8985253;8702708;17981138;18299187;18724939;18450452;18939944;19060883;19131965;9020361;14585990;14754897;10523854;21052097;22297296;22550173;22848449;15258597;21458669;10755617;10980203;12215447;14653779;15001576;15175328;15276183;16291755;16968706;17449468;18029035;18029348;19524513;19573080;19629486;19632771;19641134;19773279;19890662;19910467;20056645;20354226;20805296;20825417;21048031;16360037;19854138;20936779;16115877;21113135;19913121;20567846;20628086;19778795;21148036;12753742;21419663;21266470;21282461;23071110;21279667;21383699;19734906;20005846;21525013;19815541;20577214;21183682;21460625;21576359;21606198;21613257;21810480;11734559;15814722;19590578;20413098;22927431;19773432;20550618;21408173;21331077;20448643;21421854;21620750;21737329;21817100;21903422;21931591;22099304;22179575;22212761;23545938;23746843;22607974;21139048;21906983;18212736;15327770;16547522;18246070;19373245;21331078;22580278;22733818;22362767;22173242;22817896;23051914;22674009;22732732;22864571;23313255;11181075;11262391;11830587;15310755;17384642;19287455;21724995;17047155;18022363;21988832;22274400;22675546;22939624;22685397;17702576;19176810;20801175;22585859;22891283;23007157;23032187;22659130;22922561;18949366;23524849 8737 Q13546 AB208926;ABBA01048621;AJ420482;AK096523;AK304701;AK314176;AL031963;AMYH01016029;AY682848;BC126254;BC126256;BX348786;CH471087;NM_003804;U25994;U50062 AAC32232;AAC50137;AAI26255;AAI26257;AAT74626;ADR83242;BAD92163;BAG36858;BAG53315;BAG65471;EAW55115;EAW55116;EAW55117;EAW55118;NP_003795;Q13546 Hs.519842 1767367;1778043;2130536 D6S1199E;D6S1338;RH48319 FLJ39204;RIP;RIP1 OTTHUMP00000015955;RIP-1;cell death protein RIP;receptor interacting protein;receptor-interacting protein 1;receptor-interacting serine/threonine-protein kinase 1;serine/threonine-protein kinase RIP protein-coding ENSG00000137275 10019 04583 603453 VALIDATED 1321961 RIOK3 RIO kinase 3 This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] 18 18 18 q11.2 17848659 17878896 + 19286785 19317099 + 21032787 21063101 + 6480464 19285159;17353931;9602165;18029348;19050074;16344560;16177791;15489334;14702039;12477932;16196087;21139048;21890473;21906983;19322201;22418843;22505724 8780 B0YJ89;B4E1Q4;J3QLP4;J3QQL5;O14730 ABBA01022634;ABBA01022635;AC026634;AF013591;AK024958;AK057292;AK303938;AK304571;AK310783;AMYH01008887;BC028360;BC039729;BQ221110;BX640929;CH471088;DB054065;EF445025;NM_003831 AAC26080;AAH28360;AAH39729;ACA06067;BAG51898;BAG64866;BAG65362;EAX01151;EAX01152;EAX01153;NP_003822;O14730 Hs.445511;Hs.743988 1679878;5014063;5016781;5037552;5491563 D15S1390;D8S2279;MARC_21325-21326:1032965451:1;RH11856;SHGC-67307 DKFZp779L1370;SUDD OTTHUMP00000162631;homolog of the Aspergillus nidulans sudD gene product;serine/threonine-protein kinase RIO3;sudD (suppressor of bimD6, Aspergillus nidulans) homolog;sudD homolog;sudD suppressor of Aspergillus nidulans bimD6 homolog;sudD suppressor of bimD6 homolog APPROVED protein-coding ENSG00000101782 11451 04659 603579 REVIEWED 1641968 RIPPLY1 ripply transcriptional repressor 1 This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] X X X q22.3 106614678 106617946 - 106030104 106033217 - 106143293 106146561 - 6480464 12477932;16326386;20346937;23143602 92129 Q0D2K3 ABBA01035833;ABBA01035834;AL591849;AMYH01022826;BC007652;BC101998;BC105691;BC105692;BC110436;BC127250;BX106639;CH471120;NG_016445;NG_022934;NM_001171706;NM_138382 AAI05692;AAI05693;AAI10437;AAI27251;EAX02733;NP_001165177;NP_612391;Q0D2K3 Hs.334726 2172079 SGC38161 RP11-321G1.2 OTTHUMP00000023791;OTTHUMP00000023792;protein ripply1;ripply1 homolog APPROVED protein-coding ENSG00000147223 25117 300575 VALIDATED 1319357 RIPK2 receptor-interacting serine-threonine kinase 2 This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008] 8 8 q21 90839110 90872433 + 90769975 90803292 + 1580863;6480464;6484113;6907045 11087742;15657077;17353931;17468049;9642260;9705938;12761501;19336552;18566542;18426885;18359207;18079694;17851464;17355968;17192257;17075290;17054981;16920334;16824733;16582588;16492792;16421571;16418290;16354923;16344560;16189514;15761153;15691841;15620648;15489334;14638696;12975309;12775719;12755636;12477932;12459189;12138198;11894098;11894097;11536016;11487608;11432859;10880512;10719670;10559258;20645315;22665475;22615316;22828789;10329646;10224040;9575181;16498402;16997282;18342009;19121870;19406482;19573080;19667203;19693652;19721713;19773279;19911254;20018961;20025869;22075569;21123652;15276183;20800603;21048031;19337385;17965022;22815893;19464198;17947236;21757725;18029348;12938929;21139048;21906983;21887730;22607974;19592251;21862576;21903422;21931591;22504414;22993319;18329614;22484241;17348859;22547678;23300079;23333941;23437331;16517750;23128233;20949042;21097508;20125193;22685397 8767 E5RGK6;E7ERW9;O43353 ABBA01037399;ABBA01037400;AC004003;AF027706;AF064824;AF078530;AF117829;AI824070;AK075213;AK301448;AMYH01018872;AY358813;AY358814;AY524045;AY562996;BC004553;CH471060;DA040898;NG_033016;NM_003821 AAC24561;AAC25668;AAC27722;AAC34970;AAH04553;AAQ89172;AAQ89173;AAS75586;AAS94254;BAG52085;BAH13484;EAW91655;EAW91656;NP_003812;O43353 Hs.103755 1647072 RH48506 CARD3;CARDIAK;CCK;GIG30;RICK;RIP2 CARD-carrying kinase;CARD-containing IL-1 beta ICE-kinase;CARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinase;CARD-containing interleukin-1 beta-converting enzyme-associated kinase;OTTHUMP00000224990;RIP-2;RIP-like-interacting CLARP kinase;growth-inhibiting gene 30;receptor interacting protein 2;receptor-interacting protein (RIP)-like interacting caspase-like apoptosis regulatory protein (CLARP) kinase;receptor-interacting protein 2;receptor-interacting serine/threonine-protein kinase 2;tyrosine-protein kinase RIPK2 APPROVED protein-coding ENSG00000104312 10020 04585 603455 REVIEWED 1603981 RLFP1 rearranged L-myc fusion pseudogene 1 4 4 4 q26 114309041 114310560 - 117016288 117018293 - 117016648 117018256 - 8545128 57008 ABBA01063858;AC027613;AMYH01014477;NG_013277;U22379 RLFP APPROVED pseudo 16738 INFERRED 1604749 RIPPLY2 ripply transcriptional repressor 2 6 6 6 q14.2 84996340 85000589 + 84619704 84623953 + 84562985 84567234 + 6480464 17531978;16326386;12477932;20511563;19913121;20628086;16341674 134701 Q5TAB7 ABBA01040459;AI279191;AL139232;AMYH01016471;AW511485;BC130460;BC132968;BM782014;CH471051;NM_001009994;NR_103525 AAI30461;AAI32969;ADR83465;EAW48651;NP_001009994;Q5TAB7 Hs.149454 C6orf159;dJ237I15.1 OTTHUMP00000016800;protein ripply2;ripply2 homolog APPROVED protein-coding ENSG00000203877 21390 16658 609891 VALIDATED 5131589 RLIMP1 ring finger protein, LIM domain interacting pseudogene 1 13 41192875 41195484 + 100533695 ABBA01021296;AL355132;AMYH01005056;NG_028876 pseudo 39682 INFERRED 5131588 RLIMP2 ring finger protein, LIM domain interacting pseudogene 2 1 113668114 113669577 - 100533731 ABBA01068449;AL357055;AMYH01000957;NG_028828 pseudo 39683 INFERRED 1323281 RIPK4 receptor-interacting serine-threonine kinase 4 The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 28309333 28337056 - 42032598 42060318 - 43159529 43187249 - 1580863;6480464 10948194;18025152;17039240;14702039;12747765;12676934;12477932;12446564;11278382;10830953;8889548;18511573;19818768;20379614;9199174;21903422;21931591;23371553;22197488 54101 B7ZAU7;P57078;Q96T11;Q9H4D1 AB047783;ABBA01012805;AF308292;AJ278016;AK027424;AK296685;AK302592;AK316412;AL137448;AMYH01012263;AP001615;AP001616;AP001743;BC035755;BC110617;BC110618;BM979316;CH471079;NG_032113;NM_020639 AAG48260;AAI10618;AAI10619;ACE86829;ACE87515;BAA95526;BAB55102;BAB56136;BAH12413;BAH13756;BAH14783;CAB70741;CAC04247;EAX09589;EAX09590;EAX09591;NP_065690;P57078 Hs.517310 1689015;5015810 GDB:182516;RH99224 ANKK2;ANKRD3;DIK;MGC129992;MGC129993;NKRD3;PKK;PPS2;RIP4 OTTHUMP00000109266;PKC-delta-interacting protein kinase;ankyrin repeat domain 3;ankyrin repeat domain-containing protein 3;protein kinase C-associated kinase;receptor-interacting serine/threonine-protein kinase 4;serine/threonine-protein kinase ANKRD3 APPROVED protein-coding ENSG00000183421 496 10419 263650;605706 REVIEWED 5129244 RLIMP3 ring finger protein, LIM domain interacting pseudogene 3 15 15 15 q21.2 26979694 26981565 + 47873513 47876162 + 50086441 50088294 + 645453 ABBA01039122;AC025040;AMYH01006633;NG_022128 1686228 RH92308 pseudo 39684 INFERRED 1343782 RIT1 Ras-like without CAAX 1 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 1 1 q22 154134225 154147801 - 155867599 155881193 - 1580863;6480464 8824319;8918462;10712923;18846501;15761153;15632082;14767908;12668729;12477932;10545207;16169070;17474147;17636018;18303015;18332868;19030229;21444726;23038261;8889548;23128233;17360488;19458171;23123784 6016 Q92963 ABBA01016680;ABBA01016681;AF084462;AF493923;AK298768;AK314239;AL139128;AL355388;AMYH01001433;BC104186;BC104187;BI916790;BM546985;BQ918446;BU674989;CH471121;CR407639;NM_001256820;NM_001256821;NM_006912;U71203;U78165;Y07566 AAB42213;AAB64246;AAD13021;AAI04187;AAI04188;AAM12637;BAG36908;BAG60910;CAA68851;CAG28567;EAW53024;NP_001243749;NP_001243750;NP_008843;Q92963 Hs.491234 1664279;1753055;1773133;2138356;2153465;5091986 D1S3503;RH17869;RH69638;RH70962;SHGC-34121;SHGC-82927 MGC125864;MGC125865;NS8;RIBB;RIT;ROC1 GTP-binding protein Rit1;GTP-binding protein Roc1;OTTHUMP00000015932;OTTHUMP00000015933;Ric-like, expressed in many tissues;ras-like protein expressed in many tissues;ras-like without CAAX protein 1 APPROVED protein-coding ENSG00000143622 10023 10195 609591;615355 REVIEWED 1316971 RIT2 Ras-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] 18 18 18 q12.3 37131398 37503903 - 38577190 38949655 - 40323192 40695657 - 6480464 8824319;8918462;10712923;16157584;16122393;15489334;12934100;12477932;12099688;10545207;21738487;11703925;17474147;19734545;20379614;20489179;22491018;21957239;22451204;11329013;21832049;23007406 6014 K7EMR8;Q99578 ABBA01022357;ABBA01022358;ABBA01022359;ABBA01022360;ABBA01022361;ABBA01022362;ABBA01022363;ABBA01022364;AC025480;AC091169;AC100779;AF493922;AK313823;AMYH01008959;AY563951;BC018060;BG188523;CH471088;NM_001272077;NM_002930;U71204;U78164;U78166;Y07565 AAB42214;AAB64245;AAB64247;AAH18060;AAM12636;AAS75332;ADZ15833;BAG36558;CAA68850;EAX01432;NP_001259006;NP_002921;Q99578 Hs.464985 1336748;1341093;1651091;1659525;1678277;1687566;1720361;1727741;1750861;1753967;1763079;2141253;2179268;2182631;7187028 074ZA9;AFM312we9;D18S1123;D18S65;G18030;G63135;RH123932;RH28698;RH45940;RH70961;SHGC-101555;SHGC-104640;SHGC-146815;SHGC-53572 RIBA;RIN;ROC2 GTP-binding protein Rit2;GTP-binding protein Roc2;OTTHUMP00000163445;Ric-like, expressed in neurons;ras-like protein expressed in neurons;ras-like without CAAX protein 2 APPROVED protein-coding ENSG00000152214 10017 15253 609592 VALIDATED 1313242 RLF rearranged L-myc fusion 1 1 1 p32 38909409 38988982 + 40399628 40479180 + 40627041 40706593 + 1580863;6480464 16696853;8545128;17081983;16710414;15489334;15231748;12477932;10545207;1649386;14597674;1851085;17000644;21906983;19471022 6018 Q13129 AB209099;ABBA01023182;ABBA01023183;ABBA01023184;ABBA01023185;ABBA01023186;ABBA01023187;AK307662;AL050341;AL356424;AL512599;AL929567;AMYH01000531;AMYH01000532;AMYH01000533;BC113666;BM542854;CH471059;NM_012421;U22377 AAC50396;AAI13667;ADR83298;BAD92336;EAX07236;NP_036553;Q13129 Hs.205627 1647441;1648135;1654320;1660427;1666142;1674599;1691996;1745041;1851366;2139653;2139655;2183394;2184325;2219636;5093102;5102519 A006I34;A009G05;AL033651;D1S2131;G20854;G32521;GDB:593224;RH143286;RLF__5505;SHGC-74649;SHGC-74651;SHGC-74652;SHGC-74663;SHGC-74705;WI-11868;WI-12261 MGC142226;ZN-15L;ZNF292L OTTHUMP00000006395;Zn-15 related;rearranged L-myc fusion gene protein;zinc finger protein Rlf;zn-15-related protein protein-coding ENSG00000117000 10025 01614 180610 VALIDATED 1352466 RLIM ring finger protein, LIM domain interacting The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009] X X X q13-q21 74086277 74117928 - 73726765 73751168 - 73802811 73834461 - 1580863;6480464 11013082;19164295;14702039;12874135;12477932;11882901;10508479;10431247;19117995;22596162;18029348;20211142;19549727;17437998;19945382;18073335;23105109;16196087;18775313;21945933;20423330;21903422;21987572;21906983;22379092;22493095;22493164;22505724 51132 Q9NVW2 ABBA01059537;ABBA01059538;ABBA01059539;AF086467;AF155109;AI968256;AJ271670;AK001334;AK098789;AK123088;AK124877;AK127880;AK314760;AL513007;AL712605;AMYH01022615;BC013357;BF686000;BG259627;BX648613;CH471104;NG_013258;NM_016120;NM_183353 AAD42875;AAH13357;ABM84426;ABM87497;BAA91632;BAG37298;CAC14228;EAW98639;EAW98640;NP_057204;NP_899196;Q9NVW2 Hs.653288 1706650;1711468;1770014;1770016;2136536;2176145;2217916;5015649;5015861;5015959;5022200;5022450;5022578;5024413;5109281;7183748;7185938 A006C14;D10S16;D10S2448;D10S275;D13S1095E;D1S1423;D1S1425;DXS128;DXS8342;G20696;G49191;L17877;L18426;RNF12_3823;SHGC-82809;WI-15437 DKFZp686N06224;FLJ25923;FLJ41093;FLJ42887;FLJ45986;MGC15161;NY-REN-43;RNF12 E3 ubiquitin-protein ligase RLIM;E3 ubiquitin-protein ligase RNF12;LIM domain-interacting RING finger protein;OTTHUMP00000023574;OTTHUMP00000023575;R-LIM;RING finger LIM domain-binding protein;renal carcinoma antigen NY-REN-43;ring finger protein 12;ring zinc finger LIM domain binding protein;ring zinc finger protein NY-REN-43antigen APPROVED protein-coding 13429 02304 300379 REVIEWED 1320101 RLBP1 retinaldehyde binding protein 1 The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008] 15 15 q26 87554102 87565926 - 89753098 89764922 - 1599618;1599620;1580863;6480464;6903223;7240710 11176989;11453974;20188572 9326942;19165527;18344446;18317528;17652763;17286855;17249612;17065479;15953459;15865448;15234312;14744877;15489334;14718298;12536149;12536144;12477932;11868161;11329013;10654176;10102299;10102298;9541407;9068383;8889548;8698076;7929238;3198595;1733864;22171637;20591486;20801516;19846785;20696998;21447491;21832049;21904838;22183382 6017 H3BN92;H3BTN3;P12271 ABBA01053006;ABBA01053007;AC124068;AK312457;AMYH01006913;BC004199;BF940774;BG205561;BM704704;BM921294;BX490622;CH471101;DQ980611;J04213;L34219;NG_008116;NM_000326 AAA60251;AAA65123;AAH04199;BAG35364;EAX02038;NP_000317;P12271 Hs.1933 1744405;1744407;2116416;2153380 GDB:453389;GDB:453467;RH17590;WI-7222 CRALBP;MGC3663 cellular retinaldehyde-binding protein;cellular retinaldehyde-binding protein-1;retinaldehyde-binding protein 1 APPROVED protein-coding ENSG00000140522 10024 01572 136880;180090;607475;607476 REVIEWED 1349425 RMD1 rippling muscle disease 1 7240710 7936247 6022 7183716 D1S235 10030 7243073 RMDN2-AS1 RMDN2 antisense RNA 1 16344560 101410544 AC016689;DB142860;NR_102712 miscrna 41150 VALIDATED 1344895 RLN1 relaxin 1 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013] 9 9 p24.1 5324969 5329873 - 5334969 5339873 - 1580863;6480464 3963064;6298628;19481729;19467703;19329780;19178384;19101597;18718015;18035445;17804602;17509748;17363522;16303766;16172427;15956746;15956736;15956731;15956702;15956701;15956699;15695505;15489334;15164053;12865351;12477932;11809971;10750025;10601981;9730618;9346823;8800640;8735594;7958621;7829601;6548703;6548702;2076464;2040595;2005217;1656049;1572287;19695764;19833242;20023247;20237496;20655530;20332215;21696394;22180889;15956756;18161477;20858209;22698078 6013 P04808 A06846;A06926;A07364;A17329;ABBA01065414;ABBA01065415;AF057705;AF104934;AI363233;AL135786;AMYH01019202;AV742436;BC005956;CH471071;NM_006911;S82681;S83200;V00577;V00578;X00949 AAD14429;AAD21967;AAH05956;ABM84228;ABM87467;CAA00599;CAA00603;CAA00658;CAA01325;CAA23838;CAA23839;CAA25461;EAW58767;EAW58768;EAW58769;NP_008842;P04808 Hs.368996 1741579;1796690 GDB:181543;RLN1_1534 H1;H1RLX;RLXH1;bA12D24.3.1;bA12D24.3.2 OTTHUMP00000021026;preprorelaxin H1;prorelaxin H1;relaxin H1 APPROVED protein-coding ENSG00000107018 10026 01560 179730 REVIEWED 1345239 RLN3 relaxin 3 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. The protein encoded by this gene is a member of the relaxin family. The active form of the encoded protein consists of an A chain and a B chain but their cleavage sites are not definitely described yet. It may play a role in neuropeptide signaling processes. [provided by RefSeq, Jul 2008] 19 19 p13.2 14000017 14002783 + 14139017 14141783 + 1580863;6480464 19152634;18434306;16365033;15956730;15956686;15845619;15465925;14522968;14522967;12686464;12506116;12477932;11689565;21229994;15649866;19778557;20023247;2834384;12036966;21693186;22257012;23251661;23018057 117579 K7ENX1;Q8WXF3 AB076563;ABBA01029697;AC022098;AF447451;AMYH01009518;AY358181;BC110069;BC140935;CH471106;NM_080864 AAI40936;AAL40345;AAQ88548;BAC53758;EAW84388;NP_543140;Q8WXF3 Hs.352155 H3;RXN3;ZINS4;insl7 insulin-like 7;insulin-like peptide 7;insulin-like peptide INSL7;prorelaxin H3;relaxin-3 APPROVED protein-coding 17135 06031 606855 VALIDATED 1348053 RLN2 relaxin 2 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The active form of the protein encoded by this gene consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013] 9 9 p24.1 5289868 5294580 - 5299868 5304580 - 1580863;6480464 6548702;19289144;19073841;18723073;18474430;18434306;18345514;18236174;17653089;17616862;17363522;16877360;16580233;16049981;15967869;15956746;15956728;15956727;15956719;15956711;15956696;15489334;15164053;15070778;12614168;12590922;12506116;12477932;12198562;11313185;10750025;10601981;9730618;8735594;7958621;7916973;7829601;6548703;2076464;2040595;2005217;1656049;1572287;15649866;20023247;20237496;18577758;12036966;22949764;21493587;23024363;22737225;22855207;23668059;21789713;21737831;21878627;22226177;22152813;22141456;23111608;23141816;23081913;11329013;19416221;20043231;20191607;20858209;21235507;22541981;22698078 6019 H0Y5M9;P04090 A06925;A17315;AA935560;ABBA01065415;ABBA01065416;AF057706;AF104935;AI033912;AL135786;AMYH01019201;AMYH01019202;BC126415;BC126419;BG206251;BX094853;CH471071;NM_005059;NM_134441;X00948 AAD21961;AAI26416;AAI26420;ADR83496;CAA00602;CAA01324;CAA25460;EAW58770;EAW58771;NP_005050;NP_604390;P04090 Hs.127032 1796690 RLN1_1534 H2;H2-RLX;RLXH2;bA12D24.1.1;bA12D24.1.2 H2-preprorelaxin;OTTHUMP00000021027;OTTHUMP00000196912;prorelaxin H2;relaxin H2;relaxin, ovarian, of pregnancy APPROVED protein-coding ENSG00000107014 10027 01561 179740 REVIEWED 1605284 RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 16 16 16 q22.1 52187520 52199962 + 66236531 66248973 + 67679030 67691472 + 6480464 15588584;12477932;19846667;22990118;23022380 146206 B8X2Z3;Q6F5E8;R4GMZ7;R4GNC4 AB113647;ABBA01025449;ABBA01025450;ABBA01025451;AC009095;AC010530;AK090421;AL832446;AMYH01007750;AMYH01007751;BC043154;FJ026014;NM_001013838 AAH43154;AAI72249;ACI49710;BAC03402;BAD26751;NP_001013860;Q6F5E8 Hs.611432 1649461;1657321;1682738;1684624;1728945;2125221;2170058;2217210 CTCF_3772;Ctcf;RH64901;RH68791;RH78775;RH80821;SHGC-61086;WI-21064 CARMIL2;CARMIL2b;LRRC16C RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein;RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein;leucine rich repeat containing 16C;leucine-rich repeat-containing protein 16C protein-coding ENSG00000159753 27089 18556 610859 PROVISIONAL 1605570 RMDN2 regulator of microtubule dynamics 2 2 2 2 p22.2 37993344 38135162 + 38031110 38147784 + 38152462 38294285 + 6480464 18936436;18676680;18070910;14702039;12975309;12477932;19170196;19625176;19692168;20379614;20932654;21139048 151393 B5MC85;C9JGB2;C9JUD5;F8WFC3;H7C2J3;Q8NHM0 ABBA01074988;ABBA01074989;AC009229;AC016689;AF435956;AK057516;AK095462;AMYH01010263;AMYH01010264;AY358269;BC024243;BR000689;BR000692;CH471053;DB458482;DB523982;NM_001170791;NM_001170792;NM_001170793;NM_144713 AAH24243;AAM20907;AAQ88636;AAX88865;BAB71517;BAC04551;EAX00384;EAX00385;EAX00386;EAX00387;FAA00414;FAA00417;NP_001164262;NP_001164263;NP_001164264;NP_653314;Q96LZ7 Hs.591566 1338122;1663664;1685073;1701338;1769419;1849299;2162194 D2S1346;D2S1348;D2S2571;RH104299;RH35889;RH92415;WIAF-1508 BLOCK18;FAM82A;FAM82A1;FLJ32954;FLJ38143;MGC33318;PRO34163;PYST9371;RMD-2;RMD2;RMD4;hRMD-2;hRMD-4 OTTHUMP00000158601;OTTHUMP00000201371;OTTHUMP00000201373;OTTHUMP00000201374;OTTHUMP00000202011;OTTHUMP00000202012;OTTHUMP00000202013;OTTHUMP00000202074;RMD-2;family with sequence similarity 82, member A;family with sequence similarity 82, member A1;microtubule-associated protein;regulator of microtubule dynamics protein 2 APPROVED protein-coding ENSG00000115841 26567 08741 611872 VALIDATED 1321710 RMI1 RecQ mediated genome instability 1 RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008] 9 9 q21.32 85785457 85808809 + 86595637 86618989 + 737633;6480464 12477932 19432957;18390547;17900800;17728255;17081983;16595695;16537486;15775963;15489334;15342556;15164053;14702039;12973351;20826342;15889139;20445207;20339536;19861517;19945966;20347428;20064461;20347429;17289582;20360068;21900206;21139048;21890473;21906983;22645306;20826341 80010 Q9H9A7 ABBA01034012;ABBA01034013;AJ420435;AK022950;AL354733;AL732446;AMYH01021463;BC020606;BC032494;BC039999;BC044571;BC053549;BC064937;BP327553;CH471089;DN997105;NM_024945 AAH20606;AAH32494;AAH39999;AAH53549;AAH64937;BAB14325;EAW62682;EAW62683;NP_079221;Q9H9A7 Hs.726327 1647925;1754361 SHGC-132380;SHGC-24378 BLAP75;C9orf76;FAAP75;FLJ12888;RP11-346I8.1 BLM-Associated Polypeptide, 75 kDa;BLM-associated protein 75 kDa;BLM-associated protein of 75 kDa;FAAP75;OTTHUMP00000021565;OTTHUMP00000021566;RMI1, RecQ mediated genome instability 1, homolog;chromosome 9 open reading frame 76;homolog of yeast RecQ-mediated genome instability 1 (RMI1);recQ-mediated genome instability protein 1 APPROVED protein-coding ENSG00000178966 25764 09867 610404 VALIDATED 1606180 RMI2 RecQ mediated genome instability 2 RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008] 16 16 16 p13.13 11608616 11614921 + 11346812 11353118 + 11439311 11445617 + 6480464 18978792;18923083;18923082;12477932;20601676;20826342;20064461;20347429;22939629;18029348;20360068;21139048;20826341;23128233 116028 I3L2E0;Q96E14 ABBA01006812;AC009121;AK123764;AMYH01007153;BC013040;BC022427;BC031016;BC039361;CH471112;NM_152308 AAH13040;AAH22427;AAH31016;AAH39361;BAG53958;EAW85155;NP_689521;Q96E14 Hs.347524 2142439 RH69533 BLAP18;C16orf75;MGC24665 BLM-associated protein of 18 kDa;OTTHUMP00000160222;RMI2, RecQ mediated genome instability 2, homolog;RecQ-mediated genome instability 2, S. cerevisiae, homolog of;hRMI2;recQ-mediated genome instability protein 2 APPROVED protein-coding ENSG00000175643 28349 14497 612426 PROVISIONAL 1349985 RMRP RNA component of mitochondrial RNA processing endoribonuclease This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010] 9 9 p21-p12 35647750 35648014 - 35657748 35658015 - 7240710 18978468;18804272;18627050;18553549;18540246;17937437;17701897;17489853;16838329;16832578;16254002;16252239;16244706;12107819;11940090;11207361;3582365;1623519;10352175;15096576;19701182;20538026;19446021;21813924;22420014;22751105 6023 AA593275;ABBA01064988;AF334829;AL357874;AMYH01019347;DW422801;DW423815;M29916;NG_017041;NG_033120;NR_003051 Hs.587502 CHH;NME1;RMRPR;RRP2 APPROVED miscrna ENSG00000199916;ENSG00000269900 10031 157660;250250;250460;607095 REVIEWED 1342614 RN5S1@ RNA, 5S cluster 1 4437633 6025 10034 180420 1353418 RN5S2@ RNA, 5S cluster 2 7956368 6026 10035 1353780 RN5S3@ RNA, 5S cluster 3 7736795 6027 10036 1345130 RN7SK RNA, 7SK small nuclear 6 6 p12.2 52968377 52968708 + 52860418 52860749 + 6480464 18483222;17381310;16362050;15994294;14627702;11713533;11713532;8139910;6548262;2443710;1721058;1646389;954090;12832472;17611602;21957495;20816986;17643375;20201073;20471949;20976203;23221635;21282977;22952229;14580347;21087998;21360054;15713661;19246988 125050 ABBA01050546;AL162581;AMYH01016356;NR_001445;X04236;X05490 7SK rna, 7sk, nuclear snrna ENSG00000202198 10037 606515 PROVISIONAL 6481486 RN7SKP1 RNA, 7SK small nuclear pseudogene 1 100873845 AL356274;NG_032625 pseudo 42619 INFERRED 6481518 RN7SKP10 RNA, 7SK small nuclear pseudogene 10 13 110567443 110567767 + 100873873 ABBA01027002;AL354947;AMYH01005374;NG_032646 pseudo 42628 INFERRED 6481489 RN7SKP2 RNA, 7SK small nuclear pseudogene 2 13 40981259 40981577 - 100873846 ABBA01021297;AL391724;AMYH01005054;NG_032626 pseudo 42620 INFERRED 1602700 RMDN3 regulator of microtubule dynamics 3 15 15 q15.1 38815378 38834750 - 41028086 41047458 - 6480464 22544307;17353931;19124842;19012732;18854601;18070910;16820967;15609043;15324660;14702039;12975309;12477932;18029348;19691131;19773279;20936779;17207965;20627780;20877624;22990118;20360068;21513978;21900206;21972092;21139048;21163940;22939629 55177 H0YLG5;H0YLV7;H0YMB1;H0YNE5;Q96TC7 AB000782;ABBA01038432;AC012476;AJ242719;AK001441;AK025963;AK090731;AK092058;AK097286;AK123192;AK123282;AMYH01006566;AY358793;BC008970;BC063844;BR000691;CH471125;NM_018145 AAH08970;AAH63844;AAQ89153;ADQ31966;BAA91693;BAB15298;BAB46923;BAC85554;BAG52475;BAG53446;BAG53885;CAC39480;EAW92436;EAW92437;EAW92438;EAW92439;EAW92440;EAW92441;FAA00416;NP_060615;Q96TC7 Hs.511067 1663914;1849309;1854708;2138428;2178998;5094042;5108390 A002D30;D15S709E;D5S447E;G33072;RH77788;STS-W60903;WI-20095 FAM82A2;FAM82C;FLJ10579;RMD-3;RMD3;hRMD-3;ptpip51 OTTHUMP00000160543;RMD-3;TCPTP-interacting protein 51;cerebral protein 10;family with sequence similarity 82, member A2;family with sequence similarity 82, member C;microtubule-associated protein;protein tyrosine phosphatase-interacting protein 51;regulator of microtubule dynamics 3;regulator of microtubule dynamics protein 3 APPROVED protein-coding ENSG00000137824 25550 07687 611873 PROVISIONAL 6481487 RN7SKP3 RNA, 7SK small nuclear pseudogene 3 13 45634864 45635221 + 100873847 ABBA01021224;AL138693;AMYH01005084;NG_032627 pseudo 42621 INFERRED 6481492 RN7SKP4 RNA, 7SK small nuclear pseudogene 4 100873848 AL138693;NG_032628 pseudo 42622 INFERRED 6481491 RN7SKP5 RNA, 7SK small nuclear pseudogene 5 13 46824077 46824348 + 100873849 ABBA01050984;AL137141;AMYH01005093;NG_032629 pseudo 42623 INFERRED 6481497 RN7SKP6 RNA, 7SK small nuclear pseudogene 6 13 57459418 57459736 - 100873850 ABBA01037021;AL355576;AMYH01005139;NG_032630 pseudo 42624 INFERRED 6481494 RN7SKP7 RNA, 7SK small nuclear pseudogene 7 100873851 AL353581;NG_032631 pseudo 42625 INFERRED 6481495 RN7SKP8 RNA, 7SK small nuclear pseudogene 8 100873852 AL136300;NG_032632 pseudo 42626 INFERRED 6481493 RN7SKP9 RNA, 7SK small nuclear pseudogene 9 13 99857962 99858260 + 100873853 ABBA01027127;AL160155;AMYH01005326;NG_032633 pseudo 42627 INFERRED 1351215 RN7SL1 RNA, 7SL, cytoplasmic 1 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL1, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008] 14 14 14 q21.3 29913125 29913423 + 49123048 49123346 + 50053298 50053596 + 18067920;17881443;15667936;12244299;12086622;6084597 6029 ABBA01018109;AL139099;AMYH01005711;NR_002715;X04248 1770083;5022651 D11S2921;D14S1235 7L1a;7SL;RN7SL;RNSRP1 APPROVED snrna ENSG00000258486;ENSG00000266422 10038 612177 PROVISIONAL 1343539 RN7SL3 RNA, 7SL, cytoplasmic 3 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL3, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008] 14 14 14 q21.3 30187481 30187779 - 50320334 50320632 - 50320334 50320632 - 15667936;6084597 378707 ABBA01018120;AL627171;AMYH01005716;NG_011406;X04251 7L30.2;RN7SL631P;RNSRP3 APPROVED pseudo 23135 612180 INFERRED 1346682 RN7SL4P RNA, 7SL, cytoplasmic 4, pseudogene 3 p25.1 15754963 15755276 + 6084597 6030 AC090950;NG_002425;X04250 7L28;RN7SL427P;RN7SLP1 APPROVED pseudo 10039 INFERRED 1343363 RN7SL5P RNA, 7SL, cytoplasmic 5, pseudogene 9 9 9 p23 9376410 9376722 + 9431998 9432310 + 9441998 9442310 + 6084597 6031 ABBA01065356;AL353733;AMYH01019222;NG_002426;X04252 7LEM1;RN7SL249P;RN7SLP2 APPROVED pseudo 10040 INFERRED 2298930 RMST rhabdomyosarcoma 2 associated transcript (non-protein coding) 12 12 12 q23.1 97524379 97593174 + 97858799 97927544 + 97858799 97927544 + 6480464 14702039;12082533;20062813;23563609 196475 ABBA01053301;ABBA01053302;ABBA01053303;AC007351;AC018659;AF429305;AF429306;AK056164;AMYH01004685;NR_024037 Hs.652568 1699280;1739381;1794100;1794102;1794104;2124117 D12S1375E;D12S1430;PMC310794P17;PMC310794P18;PMC310794P19;RH103222 LINC00054;NCRMS;NCRNA00054 miscrna ENSG00000255794 29893 607045 PREDICTED 1346835 RN7SL2 RNA, 7SL, cytoplasmic 2 The signal recognition particle (SRP) is a cytoplasmic ribonucleoprotein complex that mediates cotranslational insertion of secretory proteins into the lumen of the endoplasmic reticulum. The SRP consists of 6 polypeptides (e.g., SRP19; MIM 182175) and a 7SL RNA molecule, such as RN7SL2, that is partially homologous to Alu DNA (Ullu and Weiner, 1984 [PubMed 6084597]).[supplied by OMIM, Jul 2008] 14 14 14 q21.3 30196415 30196713 - 50329269 50329567 - 50329269 50329567 - 6084597 378706 ABBA01018120;AL627171;AMYH01005716;NR_027260;X02067;X04249 5022651 D11S2921 7L1C;7L30.1;7SL1c;RNSRP2 APPROVED snrna ENSG00000265150 23134 612179 PROVISIONAL 1606009 RMDN1 regulator of microtubule dynamics 1 8 8 8 q21.3 83679304 83713917 - 87553694 87590125 - 87484578 87521009 - 6480464 18070910;15489334;15342556;12477932;10810093;17207965;20877624;21048031;21103663;20000738;22114354;21890473;21906983;18029348 51115 B4DZW6;E5RGC8;E5RH53;E5RJC7;E5RJV0;E7EVI2;E7EWZ7;H0YAP5;H0YB03;H0YB83;H0YBD9;H0YC27;H0YC67;Q96DB5 ABBA01037362;ABBA01037363;AC103817;AF151848;AK000672;AK297896;AK303122;AMYH01018859;BC008509;BC009671;BP199284;BP234465;BR000690;BX640636;CH471060;NM_016033 AAD34085;AAH09671;ADQ32313;BAG60217;BAG64228;CAE45784;EAW91638;EAW91639;FAA00415;NP_057117;Q96DB5 Hs.145386 1644263;1665697;1756391;2115495;2136436;2136438;2136440 D8S1679;D8S1972;RH78248;SHGC-143357;SHGC-36674;STS-H53731;WI-11972 CGI-90;FAM82B;FLJ20665;RMD-1;RMD1 OTTHUMP00000224544;OTTHUMP00000224580;OTTHUMP00000224583;OTTHUMP00000224584;OTTHUMP00000224585;OTTHUMP00000224586;family with sequence similarity 82, member B;hRMD-1;microtubule-associated protein;regulator of microtubule dynamics 1;regulator of microtubule dynamics protein 1 APPROVED protein-coding ENSG00000176623 24285 13042 611871 VALIDATED 2881181 RNA18S5 RNA, 18S ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes an 18S rRNA.[provided by RefSeq, Mar 2009] p12 22457825;20056613;3689320;8972871;21907836;15851029 100008588 ABBA01004464;AL592188;NR_003286;U13369 1711454;1791352;1791750;1791866;1792330;1792534;1793006;1793026;5019377 G47279;PMC106412P1;PMC123151P1;PMC128323P1;PMC133845P3;PMC140912P1;PMC153210P1;PMC18377P1;PMC18810P1 RN18S1 APPROVED rrna 37657 PROVISIONAL 1344110 RN7SL6P RNA, 7SL, cytoplasmic 6, pseudogene 22 22 22 q11.22 7289449 7289793 - 21804891 21805235 - 23474891 23475235 - 6084597 6032 AC000029;NG_002427;X04253 7L7;RN7SL848P;RN7SLP3 APPROVED pseudo 10041 INFERRED 1349865 RN7SL7P RNA, 7SL, cytoplasmic 7, pseudogene 7 7 7 q21.2 87304779 87305163 - 92438192 92438576 - 92600256 92600640 - 6084597 6033 AACC02000014;ABBA01045794;AC002454;AMYH01017691;CH236949;NG_002428;X04254 7L23;RN7SL27P;RN7SLP4 APPROVED pseudo 10042 INFERRED 1351039 RN7SL8P RNA, 7SL, cytoplasmic 8, pseudogene 7 7 7 q22.3 99358010 99358282 + 104339556 104339828 + 104552320 104552592 + 6084597 6034 AACC02000004;ABBA01057964;AC007384;AMYH01017816;CH236947;NG_002429;X04255 7L63;RN7SL433P;RN7SLP5 APPROVED pseudo 10043 INFERRED 6892833 RNA45S5 RNA, 45S pre-ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the 45S pre-rRNA transcript. [provided by RefSeq, Feb 2012] 3689320 100861532 AL592188;AMYH01001436;AMYH01016018;NR_046235 RN45S rrna 44273 VALIDATED 2793635 RNA5-8S5 RNA, 5.8S ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes a 5.8S rRNA.[provided by RefSeq, Mar 2009] p12 3689320;8972871 100008587 AL592188;NR_003285;U13369 1711454;1791866;5492172 G47279;ITS;PMC128323P1 RN5-8S1 APPROVED rrna 37660 PROVISIONAL 2881182 RNA28S5 RNA, 28S ribosomal 5 The sequences coding for ribosomal RNAs are present as rDNA repeating units, designated RNR1 through RNR5, in the p12 region of chromosomes 13, 14, 15, 21 and 22. A 45S rRNA which serves as the precursor for the 18S, 5.8S and 28S rRNA, is transcribed from each rDNA unit by RNA polymerase I. The number of rDNA repeating units varies between individuals and from chromosome to chromosome, although usually 30 to 40 repeats are found on each chromosome. These ribosomal repeating units are not currently annotated on the reference genome. This gene represents the portion of one rDNA repeat which encodes a 28S rRNA.[provided by RefSeq, Mar 2009] p12 6480464 22457825;11181995;17803354;20056613;3689320;8972871;21907836;15851029 100008589 AL592188;AMYH01016018;NR_003287;U13369 1788462;1788944;1792776;1794656;5014342;5023547;5024784 PMC164283P1;PMC343947P1;PMC84149P1;UniSTS:225108;fe50c07.y1;fk89b04.x1;fk94b09.x1 RN28S1 APPROVED rrna 37659 PROVISIONAL 2794510 RNA18SP2 RNA, 18S ribosomal pseudogene 2 Y Y Y p11.2 3372688 3374535 + 10644765 10646812 + 10034866 10036713 + 12815422;9847074 359724 AC010970;NG_002801 1790951;2188273;2188281;2188283;2188287 G66310;G66314;G66315;G66318;sY1280 RN18S2P APPROVED pseudo 37658 INFERRED 6482019 RNA5-8SP3 RNA, 5.8S ribosomal pseudogene 3 100873334 AL354797 RN5-8S3 APPROVED pseudo 41957 6482023 RNA5-8SP5 RNA, 5.8S ribosomal pseudogene 5 100873335 AC097532;NG_033472 RN5-8S5 APPROVED pseudo 41959 INFERRED 6482022 RNA5-8SP6 RNA, 5.8S ribosomal pseudogene 6 100873336 AC010970;NG_033474 RN5-8S6 APPROVED pseudo 41960 INFERRED 2303879 RNA5S1 RNA, 5S ribosomal 1 1 1 1 q42 202049252 202049372 - 228746013 228746133 - 228746013 228746133 - 100169751 ABBA01005839;AL713899;NR_023363 RN5S1 APPROVED rrna ENSG00000199352 34362 PROVISIONAL 2303870 RNA5S10 RNA, 5S ribosomal 10 1 1 q42 228766135 228766255 - 228766135 228766255 - 100169761 ABBA01013454;AL713899;NR_023372 RN5S10 APPROVED rrna ENSG00000199910 34371 PROVISIONAL 6481813 RNA5-8SP7 RNA, 5.8S ribosomal pseudogene 7 100873573 AL121757;NG_033438 RN5-8S7 APPROVED pseudo 41962 INFERRED 6481814 RNA5-8SP4 RNA, 5.8S ribosomal pseudogene 4 100873572 AC092279 RN5-8S4 APPROVED pseudo 41958 6481815 RNA5-8SP2 RNA, 5.8S ribosomal pseudogene 2 100873571 AC136932 RN5-8S2 APPROVED pseudo 41956 2303869 RNA5S11 RNA, 5S ribosomal 11 1 1 q42 228768376 228768496 - 228768376 228768496 - 100169762 ABBA01013454;AL713899;NR_023373 RN5S11 APPROVED rrna ENSG00000199334 34372 PROVISIONAL 2303868 RNA5S12 RNA, 5S ribosomal 12 1 1 q42 228770616 228770736 - 228770616 228770736 - 100169763 ABBA01013454;AL713899;NR_023374 RN5S12 APPROVED rrna ENSG00000199270 34373 PROVISIONAL 2303867 RNA5S13 RNA, 5S ribosomal 13 1 1 q42 228772841 228772961 - 228772841 228772961 - 100169764 AL713899;NR_023375 RN5S13 APPROVED rrna ENSG00000202526 34374 PROVISIONAL 2303864 RNA5S16 RNA, 5S ribosomal 16 1 1 q42 228779554 228779674 - 228779554 228779674 - 100169767 AL713899;AMYH01001804;NR_023378 RN5S16 APPROVED rrna ENSG00000202257 34377 PROVISIONAL 2303866 RNA5S14 RNA, 5S ribosomal 14 1 1 q42 228775082 228775202 - 228775082 228775202 - 100169765 AL713899;NR_023376 RN5S14 APPROVED rrna ENSG00000201355 34375 PROVISIONAL 2303865 RNA5S15 RNA, 5S ribosomal 15 1 1 q42 228777313 228777433 - 228777313 228777433 - 100169766 AL713899;NR_023377 RN5S15 APPROVED rrna ENSG00000201925 34376 PROVISIONAL 2303863 RNA5S17 RNA, 5S ribosomal 17 1 1 q42 228781785 228781905 - 228781785 228781905 - 100169768 AL713899;AMYH01001804;NR_023379 RN5S17 APPROVED rrna ENSG00000200370 34378 PROVISIONAL 2303877 RNA5S3 RNA, 5S ribosomal 3 1 1 q42 228750495 228750615 - 228750495 228750615 - 100169754 ABBA01013454;AL713899;NR_023365 RN5S3 APPROVED rrna ENSG00000199337 34364 PROVISIONAL 2303878 RNA5S2 RNA, 5S ribosomal 2 1 1 q42 228748254 228748374 - 228748254 228748374 - 100169753 ABBA01005839;AL713899;NR_023364 RN5S2 APPROVED rrna ENSG00000201588 34363 PROVISIONAL 2303876 RNA5S4 RNA, 5S ribosomal 4 1 1 q42 228752736 228752856 - 228752736 228752856 - 100169755 AL713899;NR_023366 RN5S4 APPROVED rrna ENSG00000200381 34365 PROVISIONAL 2303875 RNA5S5 RNA, 5S ribosomal 5 1 1 q42 228754977 228755097 - 228754977 228755097 - 100169756 AL713899;NR_023367 RN5S5 APPROVED rrna ENSG00000199396 34366 PROVISIONAL 2303874 RNA5S6 RNA, 5S ribosomal 6 1 1 q42 228757192 228757312 - 228757192 228757312 - 100169757 AL713899;NR_023368 RN5S6 APPROVED rrna ENSG00000200624 34367 PROVISIONAL 2303872 RNA5S8 RNA, 5S ribosomal 8 1 1 q42 228761654 228761774 - 228761654 228761774 - 100169759 AL713899;NR_023370 RN5S8 APPROVED rrna ENSG00000200343 34369 PROVISIONAL 2303873 RNA5S7 RNA, 5S ribosomal 7 1 1 q42 228759412 228759532 - 228759412 228759532 - 100169758 AL713899;AMYH01001797;NR_023369 RN5S7 APPROVED rrna ENSG00000202521 34368 PROVISIONAL 2303871 RNA5S9 RNA, 5S ribosomal 9 1 1 q42 112103295 112103337 + 228763893 228764013 - 100169760 AL713899;AMYH01001801;NR_023371 RN5S9 APPROVED rrna ENSG00000201321 34370 PROVISIONAL 6481947 RNA5SP104 RNA, 5S ribosomal pseudogene 104 100873375 AC016906 RN5S104 APPROVED pseudo 42902 6481936 RNA5SP102 RNA, 5S ribosomal pseudogene 102 100873373 AC019105;NG_033528 RN5S102 APPROVED pseudo 42900 INFERRED 6481941 RNA5SP103 RNA, 5S ribosomal pseudogene 103 100873374 AC020591;NG_033530 RN5S103 APPROVED pseudo 42901 INFERRED 6481938 RNA5SP101 RNA, 5S ribosomal pseudogene 101 100873372 AC079395;NG_033526 RN5S101 APPROVED pseudo 42899 INFERRED 6481946 RNA5SP105 RNA, 5S ribosomal pseudogene 105 100873376 AC017082 RN5S105 APPROVED pseudo 42903 6481942 RNA5SP107 RNA, 5S ribosomal pseudogene 107 100873377 AC010730;NG_033536 RN5S107 APPROVED pseudo 42905 INFERRED 6481943 RNA5SP108 RNA, 5S ribosomal pseudogene 108 100873378 AC009487;NG_033538 RN5S108 APPROVED pseudo 42906 INFERRED 6481948 RNA5SP109 RNA, 5S ribosomal pseudogene 109 100873379 AC007740;NG_033540 RN5S109 APPROVED pseudo 42907 INFERRED 6481944 RNA5SP111 RNA, 5S ribosomal pseudogene 111 100873381 AC019197 RN5S111 APPROVED pseudo 42909 6481945 RNA5SP110 RNA, 5S ribosomal pseudogene 110 100873380 AC019181;NG_033542 RN5S110 APPROVED pseudo 42908 INFERRED 6481949 RNA5SP114 RNA, 5S ribosomal pseudogene 114 100873384 AC104131 RN5S114 APPROVED pseudo 42912 6481950 RNA5SP115 RNA, 5S ribosomal pseudogene 115 100873385 AC005037 RN5S115 APPROVED pseudo 42913 6481952 RNA5SP113 RNA, 5S ribosomal pseudogene 113 100873383 AC064837 RN5S113 APPROVED pseudo 42911 6481954 RNA5SP112 RNA, 5S ribosomal pseudogene 112 100873382 AC079305 RN5S112 APPROVED pseudo 42910 6481953 RNA5SP117 RNA, 5S ribosomal pseudogene 117 100873387 AC069205;NG_033556 RN5S117 APPROVED pseudo 42915 INFERRED 6481951 RNA5SP118 RNA, 5S ribosomal pseudogene 118 100873388 AC006385;NG_033558 RN5S118 APPROVED pseudo 42916 INFERRED 6481956 RNA5SP116 RNA, 5S ribosomal pseudogene 116 100873386 AC093698;NG_033554 RN5S116 APPROVED pseudo 42914 INFERRED 6481957 RNA5SP122 RNA, 5S ribosomal pseudogene 122 100873392 AC133528 RN5S122 APPROVED pseudo 42920 6481959 RNA5SP120 RNA, 5S ribosomal pseudogene 120 100873390 AC007563;NG_033562 RN5S120 APPROVED pseudo 42918 INFERRED 6481955 RNA5SP119 RNA, 5S ribosomal pseudogene 119 100873389 AC068970;NG_033560 RN5S119 APPROVED pseudo 42917 INFERRED 6481962 RNA5SP123 RNA, 5S ribosomal pseudogene 123 100873393 AC018500;NG_033568 RN5S123 APPROVED pseudo 43023 INFERRED 6481958 RNA5SP121 RNA, 5S ribosomal pseudogene 121 100873391 AC093762 RN5S121 APPROVED pseudo 42919 6481965 RNA5SP125 RNA, 5S ribosomal pseudogene 125 100873395 AC092422;NG_033572 RN5S125 APPROVED pseudo 43025 INFERRED 6481961 RNA5SP126 RNA, 5S ribosomal pseudogene 126 100873396 AC098477;NG_033574 RN5S126 APPROVED pseudo 43026 INFERRED 6481960 RNA5SP124 RNA, 5S ribosomal pseudogene 124 100873394 AC093496;NG_033570 RN5S124 APPROVED pseudo 43024 INFERRED 6481964 RNA5SP128 RNA, 5S ribosomal pseudogene 128 100873398 AC093114 RN5S128 APPROVED pseudo 43028 6481963 RNA5SP127 RNA, 5S ribosomal pseudogene 127 100873397 AC115283;NG_033576 RN5S127 APPROVED pseudo 43027 INFERRED 6481966 RNA5SP129 RNA, 5S ribosomal pseudogene 129 100873399 AC097359 RN5S129 APPROVED pseudo 43029 1319942 RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 6 6 6 q25.1 152459873 152507180 - 151767682 151815009 - 151725989 151773316 - 6480464 16344560;15489334;14702039;14574404;12477932;20379614;20877624;23022098;23022099;21540461;21139048 55005 Q5SZ82;Q9NWS8 ABBA01025636;ABBA01025637;ABBA01025638;ABBA01025639;ABBA01025640;AK000634;AK026480;AK292339;AL590413;AL590543;AMYH01016746;BC012081;BC070271;BC106065;BC119683;BG547724;BG754516;CH471051;DA747450;HY331559;NG_033031;NM_001271937;NM_017909 AAH12081;AAI06066;AAI19684;BAA91299;BAB15490;BAF85028;EAW47746;EAW47747;EAW47748;EAW47749;NP_001258866;NP_060379;Q9NWS8 Hs.486835;Hs.744622 5020948 G35510 C6orf96;COXPD11;FLJ20627;MGC117362;MGC149570;MGC88260;RMD1;bA351K16;bA351K16.3 OTTHUMP00000017429;OTTHUMP00000017431;OTTHUMP00000017432;chromosome 6 open reading frame 96;required for meiotic nuclear division protein 1 homolog protein-coding ENSG00000155906 21176 09858 614917;614922 REVIEWED 6481968 RNA5SP132 RNA, 5S ribosomal pseudogene 132 100873401 AC099050 RN5S132 APPROVED pseudo 43032 6481967 RNA5SP131 RNA, 5S ribosomal pseudogene 131 100873400 Z75742 RN5S131 APPROVED pseudo 43031 6481972 RNA5SP133 RNA, 5S ribosomal pseudogene 133 100873402 AC099775;NG_033586 RN5S133 APPROVED pseudo 43033 INFERRED 6481969 RNA5SP135 RNA, 5S ribosomal pseudogene 135 100873403 AC104166;NG_033588 RN5S135 APPROVED pseudo 43035 INFERRED 6481970 RNA5SP136 RNA, 5S ribosomal pseudogene 136 100873404 AC097369;NG_033590 RN5S136 APPROVED pseudo 43036 INFERRED 6481973 RNA5SP137 RNA, 5S ribosomal pseudogene 137 100873405 AC117488;NG_033593 RN5S137 APPROVED pseudo 43037 INFERRED 6481971 RNA5SP139 RNA, 5S ribosomal pseudogene 139 100873407 AC011311 RN5S139 APPROVED pseudo 43039 6481979 RNA5SP138 RNA, 5S ribosomal pseudogene 138 100873406 AC024558;NG_033595 RN5S138 APPROVED pseudo 43038 INFERRED 6481975 RNA5SP142 RNA, 5S ribosomal pseudogene 142 100873409 AC117440;NG_033601 RN5S142 APPROVED pseudo 43042 INFERRED 6481978 RNA5SP141 RNA, 5S ribosomal pseudogene 141 100873408 AC016931;NG_033599 RN5S141 APPROVED pseudo 43041 INFERRED 6481974 RNA5SP143 RNA, 5S ribosomal pseudogene 143 100873410 AC134509;NG_033603 RN5S143 APPROVED pseudo 43043 INFERRED 6481977 RNA5SP144 RNA, 5S ribosomal pseudogene 144 100873411 AC022495;NG_033605 RN5S144 APPROVED pseudo 43044 INFERRED 6481980 RNA5SP146 RNA, 5S ribosomal pseudogene 146 100873413 AC104411;NG_033609 RN5S146 APPROVED pseudo 43046 INFERRED 6481976 RNA5SP145 RNA, 5S ribosomal pseudogene 145 100873412 AC078816;NG_033607 RN5S145 APPROVED pseudo 43045 INFERRED 6481881 RNA5SP150 RNA, 5S ribosomal pseudogene 150 100873416 AC007547 RN5S150 APPROVED pseudo 43050 6481982 RNA5SP147 RNA, 5S ribosomal pseudogene 147 100873414 AC092920 RN5S147 APPROVED pseudo 43047 6481879 RNA5SP151 RNA, 5S ribosomal pseudogene 151 100873417 AC069417 RN5S151 APPROVED pseudo 43051 6481880 RNA5SP148 RNA, 5S ribosomal pseudogene 148 100873415 AC024220 RN5S148 APPROVED pseudo 43048 6481882 RNA5SP152 RNA, 5S ribosomal pseudogene 152 100873418 AC104825;NG_033619 RN5S152 APPROVED pseudo 43052 INFERRED 6481887 RNA5SP154 RNA, 5S ribosomal pseudogene 154 100873420 AC098976 RN5S154 APPROVED pseudo 43054 6481884 RNA5SP153 RNA, 5S ribosomal pseudogene 153 100873419 AC116655;NG_033621 RN5S153 APPROVED pseudo 43053 INFERRED 6481886 RNA5SP155 RNA, 5S ribosomal pseudogene 155 100873421 AC093664 RN5S155 APPROVED pseudo 43055 6481885 RNA5SP156 RNA, 5S ribosomal pseudogene 156 100873422 AC006230 RN5S156 APPROVED pseudo 43056 6481891 RNA5SP157 RNA, 5S ribosomal pseudogene 157 100873423 AC097457;NG_033629 RN5S157 APPROVED pseudo 43057 INFERRED 6481888 RNA5SP158 RNA, 5S ribosomal pseudogene 158 100873424 AC118137;NG_033631 RN5S158 APPROVED pseudo 43058 INFERRED 6481889 RNA5SP159 RNA, 5S ribosomal pseudogene 159 100873425 AC113150;NG_033633 RN5S159 APPROVED pseudo 43059 INFERRED 6481893 RNA5SP163 RNA, 5S ribosomal pseudogene 163 100873428 AC024722 RN5S163 APPROVED pseudo 43063 6481890 RNA5SP160 RNA, 5S ribosomal pseudogene 160 100873426 AC093804;NG_033635 RN5S160 APPROVED pseudo 43060 INFERRED 6481892 RNA5SP162 RNA, 5S ribosomal pseudogene 162 100873427 AC068620;NG_033637 RN5S162 APPROVED pseudo 43062 INFERRED 6481894 RNA5SP164 RNA, 5S ribosomal pseudogene 164 100873429 AC087413 RN5S164 APPROVED pseudo 43064 6481895 RNA5SP165 RNA, 5S ribosomal pseudogene 165 100873430 AC093835;NG_033643 RN5S165 APPROVED pseudo 43065 INFERRED 6481896 RNA5SP166 RNA, 5S ribosomal pseudogene 166 100873431 AC093881 RN5S166 APPROVED pseudo 43066 6481897 RNA5SP167 RNA, 5S ribosomal pseudogene 167 100873432 AC096756 RN5S167 APPROVED pseudo 43067 6481903 RNA5SP168 RNA, 5S ribosomal pseudogene 168 100873433 AC104796 RN5S168 APPROVED pseudo 43068 6481898 RNA5SP169 RNA, 5S ribosomal pseudogene 169 100873434 AC097375 RN5S169 APPROVED pseudo 43069 6481899 RNA5SP170 RNA, 5S ribosomal pseudogene 170 100873435 AC097507 RN5S170 APPROVED pseudo 43070 6481902 RNA5SP171 RNA, 5S ribosomal pseudogene 171 100873436 AC107210 RN5S171 APPROVED pseudo 43071 6481901 RNA5SP176 RNA, 5S ribosomal pseudogene 176 100873438 AC108100;NG_033659 RN5S176 APPROVED pseudo 43076 INFERRED 6481900 RNA5SP173 RNA, 5S ribosomal pseudogene 173 100873437 AC108205;NG_033657 RN5S173 APPROVED pseudo 43073 INFERRED 6481904 RNA5SP177 RNA, 5S ribosomal pseudogene 177 100873439 AC091838;NG_033661 RN5S177 APPROVED pseudo 43077 INFERRED 6481910 RNA5SP179 RNA, 5S ribosomal pseudogene 179 100873441 AC010310;NG_033665 RN5S179 APPROVED pseudo 43079 INFERRED 6481905 RNA5SP178 RNA, 5S ribosomal pseudogene 178 100873440 AC026807;NG_033663 RN5S178 APPROVED pseudo 43078 INFERRED 6482070 RNA5SP18 RNA, 5S ribosomal pseudogene 18 100873273 AL713899;NG_033349 RN5S18 APPROVED pseudo 42586 INFERRED 6481908 RNA5SP181 RNA, 5S ribosomal pseudogene 181 100873443 AC026724 RN5S181 APPROVED pseudo 43081 6481907 RNA5SP180 RNA, 5S ribosomal pseudogene 180 100873442 AC026790 RN5S180 APPROVED pseudo 43080 6481906 RNA5SP182 RNA, 5S ribosomal pseudogene 182 100873444 AC091903 RN5S182 APPROVED pseudo 43082 6481909 RNA5SP183 RNA, 5S ribosomal pseudogene 183 100873445 AC016632 RN5S183 APPROVED pseudo 43083 6481912 RNA5SP184 RNA, 5S ribosomal pseudogene 184 100873446 AC016638;NG_033675 RN5S184 APPROVED pseudo 43084 INFERRED 6481916 RNA5SP185 RNA, 5S ribosomal pseudogene 185 100873447 AC016638;NG_033677 RN5S185 APPROVED pseudo 43085 INFERRED 6481915 RNA5SP186 RNA, 5S ribosomal pseudogene 186 100873448 AC026774 RN5S186 APPROVED pseudo 43086 6481911 RNA5SP187 RNA, 5S ribosomal pseudogene 187 100873449 AC016555 RN5S187 APPROVED pseudo 43087 6481913 RNA5SP188 RNA, 5S ribosomal pseudogene 188 100873450 AC008948;AC126916 RN5S188 APPROVED pseudo 43088 6481922 RNA5SP189 RNA, 5S ribosomal pseudogene 189 100873451 AC106777 RN5S189 APPROVED pseudo 43089 6482075 RNA5SP19 RNA, 5S ribosomal pseudogene 19 100873274 AL139288;NG_033351 RN5S19 APPROVED pseudo 42587 INFERRED 6481914 RNA5SP190 RNA, 5S ribosomal pseudogene 190 100873452 AC024564;NG_033687 RN5S190 APPROVED pseudo 43090 INFERRED 6481917 RNA5SP191 RNA, 5S ribosomal pseudogene 191 100873453 AC005373;NG_033689 RN5S191 APPROVED pseudo 43091 INFERRED 6481921 RNA5SP192 RNA, 5S ribosomal pseudogene 192 100873454 AC004500;NG_033691 RN5S192 APPROVED pseudo 43092 INFERRED 6481920 RNA5SP193 RNA, 5S ribosomal pseudogene 193 100873455 AC005213;NG_033693 RN5S193 APPROVED pseudo 43093 INFERRED 6481918 RNA5SP194 RNA, 5S ribosomal pseudogene 194 100873456 AC011405 RN5S194 APPROVED pseudo 43094 6481819 RNA5SP195 RNA, 5S ribosomal pseudogene 195 100873457 AC011404 RN5S195 APPROVED pseudo 43095 6481818 RNA5SP196 RNA, 5S ribosomal pseudogene 196 100873458 AC008728 RN5S196 APPROVED pseudo 43096 6481821 RNA5SP197 RNA, 5S ribosomal pseudogene 197 100873459 AC034205 RN5S197 APPROVED pseudo 43097 6481822 RNA5SP198 RNA, 5S ribosomal pseudogene 198 100873460 AC091982 RN5S198 APPROVED pseudo 43098 6482074 RNA5SP20 RNA, 5S ribosomal pseudogene 20 100873275 AC118549;NG_033353 RN5S20 APPROVED pseudo 42588 INFERRED 6481824 RNA5SP200 RNA, 5S ribosomal pseudogene 200 100873461 AC106731;NG_033705 RN5S200 APPROVED pseudo 43100 INFERRED 6481825 RNA5SP201 RNA, 5S ribosomal pseudogene 201 100873462 AL031963 RN5S201 APPROVED pseudo 43101 6481826 RNA5SP202 RNA, 5S ribosomal pseudogene 202 100873463 AL162718 RN5S202 APPROVED pseudo 43102 6481827 RNA5SP203 RNA, 5S ribosomal pseudogene 203 100873464 AL024498;NG_033711 RN5S203 APPROVED pseudo 43103 INFERRED 6481830 RNA5SP204 RNA, 5S ribosomal pseudogene 204 100873465 AL138724 RN5S204 APPROVED pseudo 43104 6481831 RNA5SP205 RNA, 5S ribosomal pseudogene 205 100873466 AL512403 RN5S205 APPROVED pseudo 43105 6481829 RNA5SP207 RNA, 5S ribosomal pseudogene 207 100873467 AL391903 RN5S207 APPROVED pseudo 43107 6481828 RNA5SP208 RNA, 5S ribosomal pseudogene 208 100873468 AL365503 RN5S208 APPROVED pseudo 43108 6482072 RNA5SP21 RNA, 5S ribosomal pseudogene 21 100873276 AC114487;NG_033355 RN5S21 APPROVED pseudo 42589 INFERRED 6481832 RNA5SP210 RNA, 5S ribosomal pseudogene 210 100873470 AL359693;NG_033722 RN5S210 APPROVED pseudo 43110 INFERRED 6481834 RNA5SP213 RNA, 5S ribosomal pseudogene 213 100873473 AL500524 RN5S213 APPROVED pseudo 43113 6481833 RNA5SP215 RNA, 5S ribosomal pseudogene 215 100873475 AL357332;NG_033286 RN5S215 APPROVED pseudo 43115 INFERRED 6481837 RNA5SP214 RNA, 5S ribosomal pseudogene 214 100873474 AL355358 RN5S214 APPROVED pseudo 43114 6481835 RNA5SP209 RNA, 5S ribosomal pseudogene 209 100873469 AL136093;NG_033720 RN5S209 APPROVED pseudo 43109 INFERRED 6481838 RNA5SP211 RNA, 5S ribosomal pseudogene 211 100873471 AL109920 RN5S211 APPROVED pseudo 43111 6481836 RNA5SP212 RNA, 5S ribosomal pseudogene 212 100873472 Z98742 RN5S212 APPROVED pseudo 43112 6481839 RNA5SP216 RNA, 5S ribosomal pseudogene 216 100873476 AL035689 RN5S216 APPROVED pseudo 43116 6481841 RNA5SP217 RNA, 5S ribosomal pseudogene 217 100873477 AL109939;NG_033290 RN5S217 APPROVED pseudo 43117 INFERRED 6481842 RNA5SP218 RNA, 5S ribosomal pseudogene 218 100873478 AL135839 RN5S218 APPROVED pseudo 43118 6481846 RNA5SP219 RNA, 5S ribosomal pseudogene 219 100873479 AL024508 RN5S219 APPROVED pseudo 43119 6482076 RNA5SP22 RNA, 5S ribosomal pseudogene 22 100873277 AC093118;NG_033357 RN5S22 APPROVED pseudo 42590 INFERRED 6481848 RNA5SP220 RNA, 5S ribosomal pseudogene 220 100873480 AL022477 RN5S220 APPROVED pseudo 43120 6481843 RNA5SP223 RNA, 5S ribosomal pseudogene 223 100873482 AL049548 RN5S223 APPROVED pseudo 43123 6481840 RNA5SP222 RNA, 5S ribosomal pseudogene 222 100873481 AL035698 RN5S222 APPROVED pseudo 43122 1604311 RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae) 2 2 2 p11.2 86775282 86832969 + 86801204 86855943 + 86947414 87005164 + 6480464 17467196;17452337;15815621;15489334;15231748;14702039;12477932;17207965;21103663;21832049;22681319;21139048;21890473;21906983 64795 Q9H871 ABBA01075791;AC064848;AK022815;AK025448;AK303113;AL050139;AL832022;AMYH01010505;AMYH01010506;AMYH01010507;BC012165;BC047668;BU620245;CH471053;NM_022780 AAH12165;AAH47668;AAX88863;ACE86476;ACE87157;ADQ33185;BAB14257;BAB15135;BAG64219;EAW99442;EAW99443;EAW99445;NP_073617;Q9H871 Hs.75277 1340845;1647374;1648087;1654795;1659054;1715421;1740045;2114258;2116677;2128540;2139230;2147121;2186649;5125083 A002T29;A007J05;D2S2130;D2S417;RH120543;RH16449;RH41923;RH66712;RH68717;RH79869;SHGC-14271;SHGC-33869;SHGC-34184;WIAF-2105 CTLH;FLJ12753;FLJ13910;FLJ21795;GID2;GID2A;MGC78451;RMD5;p44CTLH C-terminal to LisH motif, 44 kDa;GID complex subunit 2 homolog A;OTTHUMP00000160759;protein RMD5 homolog A protein-coding ENSG00000153561 25850 07841 VALIDATED 6481844 RNA5SP224 RNA, 5S ribosomal pseudogene 224 100873483 AL356963 RN5S224 APPROVED pseudo 43124 6481847 RNA5SP225 RNA, 5S ribosomal pseudogene 225 100873484 AL358134 RN5S225 APPROVED pseudo 43125 6481845 RNA5SP227 RNA, 5S ribosomal pseudogene 227 100873485 AC005079 RN5S227 APPROVED pseudo 43127 6481849 RNA5SP228 RNA, 5S ribosomal pseudogene 228 100873486 AC004485;NG_033306 RN5S228 APPROVED pseudo 43128 INFERRED 6481851 RNA5SP229 RNA, 5S ribosomal pseudogene 229 100873487 AC074338 RN5S229 APPROVED pseudo 43129 6482078 RNA5SP23 RNA, 5S ribosomal pseudogene 23 100873278 AL158841;NG_033359 RN5S23 APPROVED pseudo 42591 INFERRED 6481852 RNA5SP231 RNA, 5S ribosomal pseudogene 231 100873489 AC004910;NG_033309 RN5S231 APPROVED pseudo 43131 INFERRED 6481850 RNA5SP230 RNA, 5S ribosomal pseudogene 230 100873488 AC006454;NG_033308 RN5S230 APPROVED pseudo 43130 INFERRED 6481853 RNA5SP233 RNA, 5S ribosomal pseudogene 233 100873491 AC005015;NG_033311 RN5S233 APPROVED pseudo 43133 INFERRED 6481854 RNA5SP232 RNA, 5S ribosomal pseudogene 232 100873490 AC004905;NG_033310 RN5S232 APPROVED pseudo 43132 INFERRED 6481855 RNA5SP234 RNA, 5S ribosomal pseudogene 234 100873492 AC073048;NG_033312 RN5S234 APPROVED pseudo 43134 INFERRED 6481857 RNA5SP235 RNA, 5S ribosomal pseudogene 235 100873493 AC004886;NG_033313 RN5S235 APPROVED pseudo 43135 INFERRED 6481861 RNA5SP237 RNA, 5S ribosomal pseudogene 237 100873495 AC003080;NG_033315 RN5S237 APPROVED pseudo 43137 INFERRED 6481858 RNA5SP236 RNA, 5S ribosomal pseudogene 236 100873494 AC025728 RN5S236 APPROVED pseudo 43136 6481859 RNA5SP238 RNA, 5S ribosomal pseudogene 238 100873496 AC020606;NG_033316 RN5S238 APPROVED pseudo 43138 INFERRED 6481860 RNA5SP239 RNA, 5S ribosomal pseudogene 239 100873497 AC106873;NG_033317 RN5S239 APPROVED pseudo 43139 INFERRED 6481923 RNA5SP24 RNA, 5S ribosomal pseudogene 24 100873356 AL137001 RN5S24 APPROVED pseudo 42600 6481866 RNA5SP242 RNA, 5S ribosomal pseudogene 242 100873500 AC018638 RN5S242 APPROVED pseudo 43142 6481863 RNA5SP247 RNA, 5S ribosomal pseudogene 247 100873503 AC093087;NG_033323 RN5S247 APPROVED pseudo 43147 INFERRED 6483493 RNA5SP244 RNA, 5S ribosomal pseudogene 244 7 q32 129396106 129396217 + 100885864 AACC02000035;ABBA01057626;AC084864;AMYH01017933;CH236950;NG_033445;NR_048572 RN5S244 APPROVED pseudo ENSG00000212238 43144 INFERRED 6481862 RNA5SP241 RNA, 5S ribosomal pseudogene 241 100873499 AC006976 RN5S241 APPROVED pseudo 43141 6481868 RNA5SP246 RNA, 5S ribosomal pseudogene 246 100873502 AC145656;NG_033322 RN5S246 APPROVED pseudo 43146 INFERRED 6481856 RNA5SP240 RNA, 5S ribosomal pseudogene 240 100873498 AC004537 RN5S240 APPROVED pseudo 43140 6481864 RNA5SP245 RNA, 5S ribosomal pseudogene 245 100873501 AC073320 RN5S245 APPROVED pseudo 43145 6481869 RNA5SP248 RNA, 5S ribosomal pseudogene 248 100873504 AC093087;NG_033324 RN5S248 APPROVED pseudo 43148 INFERRED 6481867 RNA5SP249 RNA, 5S ribosomal pseudogene 249 100873505 AC006992;NG_033325 RN5S249 APPROVED pseudo 43149 INFERRED 6481924 RNA5SP25 RNA, 5S ribosomal pseudogene 25 100873357 AL136219;NG_033497 RN5S25 APPROVED pseudo 42601 INFERRED 6481865 RNA5SP250 RNA, 5S ribosomal pseudogene 250 100873506 AC104843;NG_033326 RN5S250 APPROVED pseudo 43150 INFERRED 6481873 RNA5SP252 RNA, 5S ribosomal pseudogene 252 100873508 AC105001;NG_033328 RN5S252 APPROVED pseudo 43152 INFERRED 6481870 RNA5SP251 RNA, 5S ribosomal pseudogene 251 100873507 AC022910;NG_033327 RN5S251 APPROVED pseudo 43151 INFERRED 6481871 RNA5SP255 RNA, 5S ribosomal pseudogene 255 100873509 AC022844;NG_033329 RN5S255 APPROVED pseudo 43155 INFERRED 6481875 RNA5SP258 RNA, 5S ribosomal pseudogene 258 100873512 AC113186;NG_033332 RN5S258 APPROVED pseudo 43158 INFERRED 6481872 RNA5SP256 RNA, 5S ribosomal pseudogene 256 100873510 AC124069 RN5S256 APPROVED pseudo 43156 6481874 RNA5SP257 RNA, 5S ribosomal pseudogene 257 100873511 AC023403;NG_033331 RN5S257 APPROVED pseudo 43157 INFERRED 6481876 RNA5SP259 RNA, 5S ribosomal pseudogene 259 100873513 AC011132;NG_033333 RN5S259 APPROVED pseudo 43159 INFERRED 6481878 RNA5SP261 RNA, 5S ribosomal pseudogene 261 100873515 AC104000 RN5S261 APPROVED pseudo 43161 6481877 RNA5SP260 RNA, 5S ribosomal pseudogene 260 100873514 AC108449;NG_033334 RN5S260 APPROVED pseudo 43160 INFERRED 6481931 RNA5SP26 RNA, 5S ribosomal pseudogene 26 100873358 AL354802;AL356495 RN5S26 APPROVED pseudo 42602 6481883 RNA5SP262 RNA, 5S ribosomal pseudogene 262 100873516 AC022850 RN5S262 APPROVED pseudo 43162 6481762 RNA5SP267 RNA, 5S ribosomal pseudogene 267 100873520 AC068394;NG_033340 RN5S267 APPROVED pseudo 43167 INFERRED 6481761 RNA5SP265 RNA, 5S ribosomal pseudogene 265 100873518 AC100817 RN5S265 APPROVED pseudo 43165 6481755 RNA5SP264 RNA, 5S ribosomal pseudogene 264 100873517 AC124076 RN5S264 APPROVED pseudo 43164 6481763 RNA5SP266 RNA, 5S ribosomal pseudogene 266 100873519 AC015528;NG_033339 RN5S266 APPROVED pseudo 43166 INFERRED 6481771 RNA5SP268 RNA, 5S ribosomal pseudogene 268 100873521 AC109335;NG_033341 RN5S268 APPROVED pseudo 43168 INFERRED 6481764 RNA5SP269 RNA, 5S ribosomal pseudogene 269 100873522 AC011884;NG_033342 RN5S269 APPROVED pseudo 43169 INFERRED 6481928 RNA5SP27 RNA, 5S ribosomal pseudogene 27 100873359 AL139326 RN5S27 APPROVED pseudo 42603 6481765 RNA5SP270 RNA, 5S ribosomal pseudogene 270 100873523 AC090574;NG_033343 RN5S270 APPROVED pseudo 43170 INFERRED 6481767 RNA5SP272 RNA, 5S ribosomal pseudogene 272 100873525 AC027259;NG_033345 RN5S272 APPROVED pseudo 43172 INFERRED 6481768 RNA5SP273 RNA, 5S ribosomal pseudogene 273 100873526 AF070718;NG_033346 RN5S273 APPROVED pseudo 43173 INFERRED 6481766 RNA5SP271 RNA, 5S ribosomal pseudogene 271 100873524 AC124293;NG_033344 RN5S271 APPROVED pseudo 43171 INFERRED 6481769 RNA5SP274 RNA, 5S ribosomal pseudogene 274 100873527 AC011118;NG_033347 RN5S274 APPROVED pseudo 43174 INFERRED 6481770 RNA5SP275 RNA, 5S ribosomal pseudogene 275 100873528 AC025508;NG_033348 RN5S275 APPROVED pseudo 43175 INFERRED 6481774 RNA5SP276 RNA, 5S ribosomal pseudogene 276 100873529 AC103863;NG_033350 RN5S276 APPROVED pseudo 43176 INFERRED 6481775 RNA5SP277 RNA, 5S ribosomal pseudogene 277 100873530 AP005717;NG_033352 RN5S277 APPROVED pseudo 43177 INFERRED 6481926 RNA5SP28 RNA, 5S ribosomal pseudogene 28 100873360 AL137880 RN5S28 APPROVED pseudo 42604 6481772 RNA5SP278 RNA, 5S ribosomal pseudogene 278 100873531 AC100860 RN5S278 APPROVED pseudo 43178 6481773 RNA5SP279 RNA, 5S ribosomal pseudogene 279 100873532 AL358934 RN5S279 APPROVED pseudo 43179 6481777 RNA5SP280 RNA, 5S ribosomal pseudogene 280 100873533 AL355433 RN5S280 APPROVED pseudo 43180 6481776 RNA5SP281 RNA, 5S ribosomal pseudogene 281 100873534 AL353573 RN5S281 APPROVED pseudo 43181 6481780 RNA5SP282 RNA, 5S ribosomal pseudogene 282 100873535 AL353662;NG_033362 RN5S282 APPROVED pseudo 43182 INFERRED 6481782 RNA5SP283 RNA, 5S ribosomal pseudogene 283 100873536 AL512625;NG_033364 RN5S283 APPROVED pseudo 43183 INFERRED 6481778 RNA5SP284 RNA, 5S ribosomal pseudogene 284 100873537 CR786580;NG_033366 RN5S284 APPROVED pseudo 43184 INFERRED 6481779 RNA5SP285 RNA, 5S ribosomal pseudogene 285 100873538 AL135924;NG_033368 RN5S285 APPROVED pseudo 43185 INFERRED 6481781 RNA5SP286 RNA, 5S ribosomal pseudogene 286 100873539 AL512594;NG_033370 RN5S286 APPROVED pseudo 43186 INFERRED 6481786 RNA5SP287 RNA, 5S ribosomal pseudogene 287 100873540 AL158154 RN5S287 APPROVED pseudo 43187 6481787 RNA5SP289 RNA, 5S ribosomal pseudogene 289 100873542 AL161454;NG_033376 RN5S289 APPROVED pseudo 43189 INFERRED 6481785 RNA5SP288 RNA, 5S ribosomal pseudogene 288 100873541 AL354893;NG_033374 RN5S288 APPROVED pseudo 43188 INFERRED 6481927 RNA5SP29 RNA, 5S ribosomal pseudogene 29 100873361 AL160157 RN5S29 APPROVED pseudo 42605 6481783 RNA5SP290 RNA, 5S ribosomal pseudogene 290 100873543 AL162427;NG_033378 RN5S290 APPROVED pseudo 43190 INFERRED 6481784 RNA5SP291 RNA, 5S ribosomal pseudogene 291 100873544 AL512639;NG_033380 RN5S291 APPROVED pseudo 43191 INFERRED 6481789 RNA5SP292 RNA, 5S ribosomal pseudogene 292 100873545 AL590362;NG_033382 RN5S292 APPROVED pseudo 43192 INFERRED 6481791 RNA5SP293 RNA, 5S ribosomal pseudogene 293 100873546 AL353137 RN5S293 APPROVED pseudo 43193 6481788 RNA5SP294 RNA, 5S ribosomal pseudogene 294 100873547 AL354661;NG_033386 RN5S294 APPROVED pseudo 43194 INFERRED 6481792 RNA5SP295 RNA, 5S ribosomal pseudogene 295 100873548 AL158824 RN5S295 APPROVED pseudo 43195 6481793 RNA5SP296 RNA, 5S ribosomal pseudogene 296 100873549 AL157935 RN5S296 APPROVED pseudo 43196 6481816 RNA5SP299 RNA, 5S ribosomal pseudogene 299 100873574 AL355333 RN5S299 APPROVED pseudo 43199 6481925 RNA5SP30 RNA, 5S ribosomal pseudogene 30 100873362 AL157772 RN5S30 APPROVED pseudo 42606 6481823 RNA5SP300 RNA, 5S ribosomal pseudogene 300 100873575 AL353586 RN5S300 APPROVED pseudo 43200 6481820 RNA5SP301 RNA, 5S ribosomal pseudogene 301 100873576 AL157392 RN5S301 APPROVED pseudo 43201 6481734 RNA5SP308 RNA, 5S ribosomal pseudogene 308 100873582 AL390248 RN5S308 APPROVED pseudo 43208 6481735 RNA5SP307 RNA, 5S ribosomal pseudogene 307 100873581 AL160287 RN5S307 APPROVED pseudo 43207 6481728 RNA5SP305 RNA, 5S ribosomal pseudogene 305 100873579 AL392104;NG_033451 RN5S305 APPROVED pseudo 43205 INFERRED 6481729 RNA5SP306 RNA, 5S ribosomal pseudogene 306 100873580 AL731546;NG_033453 RN5S306 APPROVED pseudo 43206 INFERRED 6481726 RNA5SP304 RNA, 5S ribosomal pseudogene 304 100873578 AL139815 RN5S304 APPROVED pseudo 43204 6481725 RNA5SP303 RNA, 5S ribosomal pseudogene 303 100873577 AL157895;NG_033447 RN5S303 APPROVED pseudo 43203 INFERRED 6481730 RNA5SP309 RNA, 5S ribosomal pseudogene 309 100873583 AL117340 RN5S309 APPROVED pseudo 43209 6481929 RNA5SP31 RNA, 5S ribosomal pseudogene 31 100873363 AL161901 RN5S31 APPROVED pseudo 42607 6481731 RNA5SP319 RNA, 5S ribosomal pseudogene 319 100873585 AL136233 RN5S319 APPROVED pseudo 43219 6481935 RNA5SP32 RNA, 5S ribosomal pseudogene 32 100873364 AL445923 RN5S32 APPROVED pseudo 42608 6481733 RNA5SP321 RNA, 5S ribosomal pseudogene 321 100873587 AL731556;NG_033467 RN5S321 APPROVED pseudo 43221 INFERRED 6481732 RNA5SP318 RNA, 5S ribosomal pseudogene 318 100873584 AC026223 RN5S318 APPROVED pseudo 43218 6481736 RNA5SP322 RNA, 5S ribosomal pseudogene 322 100873588 AC079955;NG_033468 RN5S322 APPROVED pseudo 43222 INFERRED 6481738 RNA5SP324 RNA, 5S ribosomal pseudogene 324 100873590 AL138765 RN5S324 APPROVED pseudo 43224 6481741 RNA5SP327 RNA, 5S ribosomal pseudogene 327 100873593 AL136368;NG_033476 RN5S327 APPROVED pseudo 43227 INFERRED 6481739 RNA5SP325 RNA, 5S ribosomal pseudogene 325 100873591 AL160010 RN5S325 APPROVED pseudo 43225 6481745 RNA5SP326 RNA, 5S ribosomal pseudogene 326 100873592 AC022024 RN5S326 APPROVED pseudo 43226 6481740 RNA5SP323 RNA, 5S ribosomal pseudogene 323 100873589 AL356214 RN5S323 APPROVED pseudo 43223 6481737 RNA5SP320 RNA, 5S ribosomal pseudogene 320 100873586 AC022400;NG_033465 RN5S320 APPROVED pseudo 43220 INFERRED 6481742 RNA5SP328 RNA, 5S ribosomal pseudogene 328 100873594 AC022015;NG_033477 RN5S328 APPROVED pseudo 43228 INFERRED 6481748 RNA5SP331 RNA, 5S ribosomal pseudogene 331 100873597 AC027779;NG_033480 RN5S331 APPROVED pseudo 43231 INFERRED 6481932 RNA5SP33 RNA, 5S ribosomal pseudogene 33 100873365 AL159974 RN5S33 APPROVED pseudo 42609 6481746 RNA5SP332 RNA, 5S ribosomal pseudogene 332 100873598 AC099738 RN5S332 APPROVED pseudo 43232 6481743 RNA5SP329 RNA, 5S ribosomal pseudogene 329 100873595 AC111177;NG_033478 RN5S329 APPROVED pseudo 43229 INFERRED 1604317 RMND5B required for meiotic nuclear division 5 homolog B (S. cerevisiae) 5 5 5 q35.3 173184980 173202461 + 177490634 177508085 + 177558028 177575479 + 6480464 16189514;15862967;15489334;15231748;14702039;12975309;12477932;19690564;21906983 64777 D6R9A2;D6RER3;D6RFE6;D6RFK1;D6RIF9;F5H6G4;Q96G75 ABBA01009987;ABBA01009988;ABBA01009989;AC136632;AK025971;AK093481;AK093622;AK094065;AK122692;AK125337;AL137381;AL713670;AMYH01015938;AY359092;BC009911;CH471165;DQ494789;NM_022762 AAH09911;AAQ89450;ABF50942;ACE86421;ACE87096;BAB15303;BAC04276;BAG52727;BAG54186;CAD28476;CAH56381;EAW53849;EAW53850;NP_073599;Q96G75 Hs.27222 1337109;1666012;1667445;1735524;1770045;2152018;2157898;2159040;5016478;5022450;5022651 D10S275;D11S2921;D5S1610E;D5S1662E;D5S1937;D5S2008;G19193;GDB:434012;HSC09A082;RH18482;RH65289 DKFZp434K0926;FLJ22318;GID2;GID2B GID complex subunit 2 homolog B;OTTHUMP00000161498;OTTHUMP00000223984;protein RMD5 homolog B protein-coding ENSG00000145916 26181 07985 PROVISIONAL 6481744 RNA5SP330 RNA, 5S ribosomal pseudogene 330 100873596 AC026894 RN5S330 APPROVED pseudo 43230 6481749 RNA5SP336 RNA, 5S ribosomal pseudogene 336 100873599 AC067794 RN5S336 APPROVED pseudo 43236 6481747 RNA5SP337 RNA, 5S ribosomal pseudogene 337 100873600 AC099730 RN5S337 APPROVED pseudo 43237 6481750 RNA5SP338 RNA, 5S ribosomal pseudogene 338 100873601 AC103801 RN5S338 APPROVED pseudo 43238 6481933 RNA5SP34 RNA, 5S ribosomal pseudogene 34 100873366 AL354915 RN5S34 APPROVED pseudo 42610 6481751 RNA5SP339 RNA, 5S ribosomal pseudogene 339 100873602 AC100771;NG_033485 RN5S339 APPROVED pseudo 43239 INFERRED 6481753 RNA5SP341 RNA, 5S ribosomal pseudogene 341 100873604 AP002893;NG_033487 RN5S341 APPROVED pseudo 43241 INFERRED 6481754 RNA5SP340 RNA, 5S ribosomal pseudogene 340 100873603 AC021443;NG_033486 RN5S340 APPROVED pseudo 43240 INFERRED 6481752 RNA5SP343 RNA, 5S ribosomal pseudogene 343 100873605 AP000577 RN5S343 APPROVED pseudo 43243 6481758 RNA5SP344 RNA, 5S ribosomal pseudogene 344 100873606 AP003168 RN5S344 APPROVED pseudo 43244 6481756 RNA5SP345 RNA, 5S ribosomal pseudogene 345 100873607 AP001877;NG_033490 RN5S345 APPROVED pseudo 43245 INFERRED 6481757 RNA5SP346 RNA, 5S ribosomal pseudogene 346 100873608 AP003781;NG_033491 RN5S346 APPROVED pseudo 43246 INFERRED 6481760 RNA5SP347 RNA, 5S ribosomal pseudogene 347 100873609 AP005434;NG_033492 RN5S347 APPROVED pseudo 43247 INFERRED 6481759 RNA5SP348 RNA, 5S ribosomal pseudogene 348 100873610 AP003304 RN5S348 APPROVED pseudo 43248 6481930 RNA5SP35 RNA, 5S ribosomal pseudogene 35 100873367 AL161426 RN5S35 APPROVED pseudo 42611 6481667 RNA5SP352 RNA, 5S ribosomal pseudogene 352 100873612 AP001524 RN5S352 APPROVED pseudo 43252 6481668 RNA5SP354 RNA, 5S ribosomal pseudogene 354 100873614 AC055720;NG_033499 RN5S354 APPROVED pseudo 43254 INFERRED 6481665 RNA5SP349 RNA, 5S ribosomal pseudogene 349 100873611 AP003123 RN5S349 APPROVED pseudo 43249 6481934 RNA5SP36 RNA, 5S ribosomal pseudogene 36 100873368 AL137061 RN5S36 APPROVED pseudo 42612 6481670 RNA5SP357 RNA, 5S ribosomal pseudogene 357 100873616 AC140847 RN5S357 APPROVED pseudo 43257 6481673 RNA5SP359 RNA, 5S ribosomal pseudogene 359 100873618 AC079460 RN5S359 APPROVED pseudo 43259 6481671 RNA5SP356 RNA, 5S ribosomal pseudogene 356 100873615 AC078776 RN5S356 APPROVED pseudo 43256 6481669 RNA5SP358 RNA, 5S ribosomal pseudogene 358 100873617 AC079460 RN5S358 APPROVED pseudo 43258 6481675 RNA5SP361 RNA, 5S ribosomal pseudogene 361 100873620 AC008127;NG_033511 RN5S361 APPROVED pseudo 43261 INFERRED 6481674 RNA5SP360 RNA, 5S ribosomal pseudogene 360 100873619 AC018698;NG_033509 RN5S360 APPROVED pseudo 43260 INFERRED 6481672 RNA5SP353 RNA, 5S ribosomal pseudogene 353 100873613 AC011594;NG_033498 RN5S353 APPROVED pseudo 43253 INFERRED 6481677 RNA5SP362 RNA, 5S ribosomal pseudogene 362 100873621 AC135255;NG_033513 RN5S362 APPROVED pseudo 43262 INFERRED 6481676 RNA5SP363 RNA, 5S ribosomal pseudogene 363 100873622 AC074270;NG_033515 RN5S363 APPROVED pseudo 43263 INFERRED 6481678 RNA5SP364 RNA, 5S ribosomal pseudogene 364 100873623 AC091516;NG_033517 RN5S364 APPROVED pseudo 43264 INFERRED 6481679 RNA5SP365 RNA, 5S ribosomal pseudogene 365 100873624 AC009522;NG_033519 RN5S365 APPROVED pseudo 43265 INFERRED 6481680 RNA5SP367 RNA, 5S ribosomal pseudogene 367 100873626 AC090671 RN5S367 APPROVED pseudo 43267 6481681 RNA5SP368 RNA, 5S ribosomal pseudogene 368 100873627 AC063950;NG_033525 RN5S368 APPROVED pseudo 43268 INFERRED 6481684 RNA5SP369 RNA, 5S ribosomal pseudogene 369 100873628 AC063950 RN5S369 APPROVED pseudo 43269 6481685 RNA5SP366 RNA, 5S ribosomal pseudogene 366 100873625 AC117377;NG_033521 RN5S366 APPROVED pseudo 43266 INFERRED 6481940 RNA5SP37 RNA, 5S ribosomal pseudogene 37 100873369 AL442067 RN5S37 APPROVED pseudo 42613 6481682 RNA5SP371 RNA, 5S ribosomal pseudogene 371 100873629 AC009774 RN5S371 APPROVED pseudo 43271 6481683 RNA5SP372 RNA, 5S ribosomal pseudogene 372 100873630 AC011596 RN5S372 APPROVED pseudo 43272 6481687 RNA5SP374 RNA, 5S ribosomal pseudogene 374 100873632 AC087863 RN5S374 APPROVED pseudo 43274 6481688 RNA5SP378 RNA, 5S ribosomal pseudogene 378 100873634 AC131009 RN5S378 APPROVED pseudo 43278 6481689 RNA5SP379 RNA, 5S ribosomal pseudogene 379 100873635 AC135586 RN5S379 APPROVED pseudo 43279 6481686 RNA5SP375 RNA, 5S ribosomal pseudogene 375 100873633 AC068768 RN5S375 APPROVED pseudo 43275 6481937 RNA5SP38 RNA, 5S ribosomal pseudogene 38 100873370 AL161617;NG_033522 RN5S38 APPROVED pseudo 42614 INFERRED 6481690 RNA5SP383 RNA, 5S ribosomal pseudogene 383 100873638 AL136295;NG_033547 RN5S383 APPROVED pseudo 43283 INFERRED 6481695 RNA5SP385 RNA, 5S ribosomal pseudogene 385 100873640 AL079307;NG_033551 RN5S385 APPROVED pseudo 43285 INFERRED 6481692 RNA5SP382 RNA, 5S ribosomal pseudogene 382 100873637 AL355075;NG_033545 RN5S382 APPROVED pseudo 43282 INFERRED 6481694 RNA5SP384 RNA, 5S ribosomal pseudogene 384 100873639 AL139099;NG_033549 RN5S384 APPROVED pseudo 43284 INFERRED 6481693 RNA5SP380 RNA, 5S ribosomal pseudogene 380 100873636 AL163152;NG_033543 RN5S380 APPROVED pseudo 43280 INFERRED 6481691 RNA5SP373 RNA, 5S ribosomal pseudogene 373 100873631 AC005805;NG_033533 RN5S373 APPROVED pseudo 43273 INFERRED 6481696 RNA5SP386 RNA, 5S ribosomal pseudogene 386 100873641 AL049779;NG_033553 RN5S386 APPROVED pseudo 43286 INFERRED 6481698 RNA5SP388 RNA, 5S ribosomal pseudogene 388 100873642 AC007955 RN5S388 APPROVED pseudo 43288 6481702 RNA5SP390 RNA, 5S ribosomal pseudogene 390 100873643 AC109512 RN5S390 APPROVED pseudo 43290 6481939 RNA5SP39 RNA, 5S ribosomal pseudogene 39 100873371 AL157762;NG_033524 RN5S39 APPROVED pseudo 42615 INFERRED 6481697 RNA5SP391 RNA, 5S ribosomal pseudogene 391 100873644 AC136896 RN5S391 APPROVED pseudo 43291 6481699 RNA5SP392 RNA, 5S ribosomal pseudogene 392 100873645 AC013356 RN5S392 APPROVED pseudo 43292 6481701 RNA5SP394 RNA, 5S ribosomal pseudogene 394 100873647 AC016045;NG_033565 RN5S394 APPROVED pseudo 43294 INFERRED 6481700 RNA5SP393 RNA, 5S ribosomal pseudogene 393 100873646 AC020659 RN5S393 APPROVED pseudo 43293 6481705 RNA5SP395 RNA, 5S ribosomal pseudogene 395 100873648 AC012170 RN5S395 APPROVED pseudo 43295 6481703 RNA5SP396 RNA, 5S ribosomal pseudogene 396 100873649 AC092754 RN5S396 APPROVED pseudo 43296 6481707 RNA5SP397 RNA, 5S ribosomal pseudogene 397 100873650 AC009560 RN5S397 APPROVED pseudo 43297 6481711 RNA5SP399 RNA, 5S ribosomal pseudogene 399 100873652 AC104938;NG_033575 RN5S399 APPROVED pseudo 43299 INFERRED 6481704 RNA5SP398 RNA, 5S ribosomal pseudogene 398 100873651 AC027237 RN5S398 APPROVED pseudo 43298 6481708 RNA5SP400 RNA, 5S ribosomal pseudogene 400 100873653 AC016180;NG_033577 RN5S400 APPROVED pseudo 43300 INFERRED 6481706 RNA5SP401 RNA, 5S ribosomal pseudogene 401 100873654 AC109808;NG_033579 RN5S401 APPROVED pseudo 43301 INFERRED 6482073 RNA5SP40 RNA, 5S ribosomal pseudogene 40 100873279 AL928921;NG_033361 RN5S40 APPROVED pseudo 42816 INFERRED 6481709 RNA5SP402 RNA, 5S ribosomal pseudogene 402 100873655 AC022710;NG_033581 RN5S402 APPROVED pseudo 43302 INFERRED 6481710 RNA5SP404 RNA, 5S ribosomal pseudogene 404 100873656 AC007221;NG_033583 RN5S404 APPROVED pseudo 43304 INFERRED 6481714 RNA5SP405 RNA, 5S ribosomal pseudogene 405 100873657 AC093509 RN5S405 APPROVED pseudo 43305 6481713 RNA5SP406 RNA, 5S ribosomal pseudogene 406 100873658 AC106785;NG_033587 RN5S406 APPROVED pseudo 43306 INFERRED 6481715 RNA5SP407 RNA, 5S ribosomal pseudogene 407 100873659 AC106785;NG_033589 RN5S407 APPROVED pseudo 43307 INFERRED 6481716 RNA5SP409 RNA, 5S ribosomal pseudogene 409 100873661 AC106785;NG_033594 RN5S409 APPROVED pseudo 43309 INFERRED 6481712 RNA5SP408 RNA, 5S ribosomal pseudogene 408 100873660 AC106785 RN5S408 APPROVED pseudo 43308 6482077 RNA5SP41 RNA, 5S ribosomal pseudogene 41 100873280 AL359771 RN5S41 APPROVED pseudo 42817 6481717 RNA5SP410 RNA, 5S ribosomal pseudogene 410 100873662 AC106785;NG_033596 RN5S410 APPROVED pseudo 43310 INFERRED 6483491 RNA5SP411 RNA, 5S ribosomal pseudogene 411 16 p11.1 34980894 34981007 + 100887740 ABBA01002110;AC106785;AMYH01007638;NR_049740 RN5S411 APPROVED pseudo ENSG00000251945 43311 MODEL 6481719 RNA5SP413 RNA, 5S ribosomal pseudogene 413 100873664 AC106785;NG_033600 RN5S413 APPROVED pseudo 43313 INFERRED 6481723 RNA5SP416 RNA, 5S ribosomal pseudogene 416 100873667 AC106785 RN5S416 APPROVED pseudo 43316 6481718 RNA5SP415 RNA, 5S ribosomal pseudogene 415 100873666 AC106785 RN5S415 APPROVED pseudo 43315 6481720 RNA5SP414 RNA, 5S ribosomal pseudogene 414 100873665 AC106785 RN5S414 APPROVED pseudo 43314 6481727 RNA5SP418 RNA, 5S ribosomal pseudogene 418 100873669 AC106785;NG_033610 RN5S418 APPROVED pseudo 43318 INFERRED 6482083 RNA5SP42 RNA, 5S ribosomal pseudogene 42 100873281 AL596224 RN5S42 APPROVED pseudo 42818 6481724 RNA5SP419 RNA, 5S ribosomal pseudogene 419 100873670 AC106785;NG_033612 RN5S419 APPROVED pseudo 43319 INFERRED 6481605 RNA5SP420 RNA, 5S ribosomal pseudogene 420 100873671 AC106785 RN5S420 APPROVED pseudo 43320 6481607 RNA5SP421 RNA, 5S ribosomal pseudogene 421 100873672 AC106785 RN5S421 APPROVED pseudo 43321 6481611 RNA5SP423 RNA, 5S ribosomal pseudogene 423 100873674 AC106785;NG_033620 RN5S423 APPROVED pseudo 43323 INFERRED 6481608 RNA5SP422 RNA, 5S ribosomal pseudogene 422 100873673 AC106785;NG_033618 RN5S422 APPROVED pseudo 43322 INFERRED 6481609 RNA5SP424 RNA, 5S ribosomal pseudogene 424 100873675 AC007599;NG_033622 RN5S424 APPROVED pseudo 43324 INFERRED 6481613 RNA5SP426 RNA, 5S ribosomal pseudogene 426 100873677 AC025810 RN5S426 APPROVED pseudo 43326 6481610 RNA5SP425 RNA, 5S ribosomal pseudogene 425 100873676 AC007599 RN5S425 APPROVED pseudo 43325 6481615 RNA5SP427 RNA, 5S ribosomal pseudogene 427 100873678 AC079416;NG_033628 RN5S427 APPROVED pseudo 43327 INFERRED 6481614 RNA5SP428 RNA, 5S ribosomal pseudogene 428 100873679 AC012325 RN5S428 APPROVED pseudo 43328 6482081 RNA5SP43 RNA, 5S ribosomal pseudogene 43 100873282 AL353604 RN5S43 APPROVED pseudo 42819 6481612 RNA5SP430 RNA, 5S ribosomal pseudogene 430 100873680 AC105430 RN5S430 APPROVED pseudo 43330 6481616 RNA5SP432 RNA, 5S ribosomal pseudogene 432 100873682 AC040169 RN5S432 APPROVED pseudo 43332 6481620 RNA5SP433 RNA, 5S ribosomal pseudogene 433 100873683 AC010551 RN5S433 APPROVED pseudo 43333 6481721 RNA5SP412 RNA, 5S ribosomal pseudogene 412 100873663 AC106785;NG_033598 RN5S412 APPROVED pseudo 43312 INFERRED 6481617 RNA5SP437 RNA, 5S ribosomal pseudogene 437 100873686 AC129917 RN5S437 APPROVED pseudo 43337 6481623 RNA5SP434 RNA, 5S ribosomal pseudogene 434 100873684 AC067815 RN5S434 APPROVED pseudo 43334 6481618 RNA5SP431 RNA, 5S ribosomal pseudogene 431 100873681 AC092376 RN5S431 APPROVED pseudo 43331 6481722 RNA5SP417 RNA, 5S ribosomal pseudogene 417 100873668 AC106785 RN5S417 APPROVED pseudo 43317 6481619 RNA5SP436 RNA, 5S ribosomal pseudogene 436 100873685 AC015922 RN5S436 APPROVED pseudo 43336 6481621 RNA5SP438 RNA, 5S ribosomal pseudogene 438 100873687 AC004147 RN5S438 APPROVED pseudo 43338 6481622 RNA5SP440 RNA, 5S ribosomal pseudogene 440 100873688 AC006449 RN5S440 APPROVED pseudo 43340 6482080 RNA5SP44 RNA, 5S ribosomal pseudogene 44 100873283 AL356055 RN5S44 APPROVED pseudo 42820 6481625 RNA5SP445 RNA, 5S ribosomal pseudogene 445 100873691 AC006947;NG_033654 RN5S445 APPROVED pseudo 43345 INFERRED 6481624 RNA5SP441 RNA, 5S ribosomal pseudogene 441 100873689 AC080112;NG_033650 RN5S441 APPROVED pseudo 43341 INFERRED 6481629 RNA5SP444 RNA, 5S ribosomal pseudogene 444 100873690 AC006120;NG_033652 RN5S444 APPROVED pseudo 43344 INFERRED 6481631 RNA5SP446 RNA, 5S ribosomal pseudogene 446 100873692 AC005988;NG_033656 RN5S446 APPROVED pseudo 43346 INFERRED 6481628 RNA5SP447 RNA, 5S ribosomal pseudogene 447 100873693 AC007448;NG_033658 RN5S447 APPROVED pseudo 43347 INFERRED 6481626 RNA5SP449 RNA, 5S ribosomal pseudogene 449 100873694 AC006238;NG_033660 RN5S449 APPROVED pseudo 43349 INFERRED 6482079 RNA5SP45 RNA, 5S ribosomal pseudogene 45 100873284 AL445933 RN5S45 APPROVED pseudo 42821 6481630 RNA5SP451 RNA, 5S ribosomal pseudogene 451 100873696 AC103987 RN5S451 APPROVED pseudo 43351 6481627 RNA5SP450 RNA, 5S ribosomal pseudogene 450 100873695 AC006238 RN5S450 APPROVED pseudo 43350 6481635 RNA5SP456 RNA, 5S ribosomal pseudogene 456 100873701 AC024288 RN5S456 APPROVED pseudo 43356 6481634 RNA5SP459 RNA, 5S ribosomal pseudogene 459 100873703 AC091103 RN5S459 APPROVED pseudo 43359 6481636 RNA5SP452 RNA, 5S ribosomal pseudogene 452 100873697 AC090772 RN5S452 APPROVED pseudo 43352 6481640 RNA5SP453 RNA, 5S ribosomal pseudogene 453 100873698 AC011825 RN5S453 APPROVED pseudo 43353 6481639 RNA5SP457 RNA, 5S ribosomal pseudogene 457 100873702 AC092705 RN5S457 APPROVED pseudo 43357 6481633 RNA5SP454 RNA, 5S ribosomal pseudogene 454 100873699 AC021735 RN5S454 APPROVED pseudo 43354 6481632 RNA5SP455 RNA, 5S ribosomal pseudogene 455 100873700 AC024301 RN5S455 APPROVED pseudo 43355 6482087 RNA5SP46 RNA, 5S ribosomal pseudogene 46 100873285 AC093420;NG_033373 RN5S46 APPROVED pseudo 42822 INFERRED 6481643 RNA5SP462 RNA, 5S ribosomal pseudogene 462 100873706 AC006124;NG_033684 RN5S462 APPROVED pseudo 43362 INFERRED 6481637 RNA5SP460 RNA, 5S ribosomal pseudogene 460 100873704 AC023301;NG_033680 RN5S460 APPROVED pseudo 43360 INFERRED 6481642 RNA5SP463 RNA, 5S ribosomal pseudogene 463 100873707 AC010336 RN5S463 APPROVED pseudo 43363 6481638 RNA5SP461 RNA, 5S ribosomal pseudogene 461 100873705 AC027510;NG_033682 RN5S461 APPROVED pseudo 43361 INFERRED 6481644 RNA5SP466 RNA, 5S ribosomal pseudogene 466 100873710 AC022415;NG_033692 RN5S466 APPROVED pseudo 43366 INFERRED 6481648 RNA5SP467 RNA, 5S ribosomal pseudogene 467 100873711 AC022415;NG_033694 RN5S467 APPROVED pseudo 43367 INFERRED 6481641 RNA5SP464 RNA, 5S ribosomal pseudogene 464 100873708 AC008770;NG_033688 RN5S464 APPROVED pseudo 43364 INFERRED 6481650 RNA5SP465 RNA, 5S ribosomal pseudogene 465 100873709 AC008770;NG_033690 RN5S465 APPROVED pseudo 43365 INFERRED 6481645 RNA5SP469 RNA, 5S ribosomal pseudogene 469 100873712 AC012627;NG_033696 RN5S469 APPROVED pseudo 43369 INFERRED 6482082 RNA5SP47 RNA, 5S ribosomal pseudogene 47 100873286 AL136380;NG_033375 RN5S47 APPROVED pseudo 42823 INFERRED 6481647 RNA5SP471 RNA, 5S ribosomal pseudogene 471 100873714 AC011546;NG_033700 RN5S471 APPROVED pseudo 43371 INFERRED 6481651 RNA5SP472 RNA, 5S ribosomal pseudogene 472 100873715 AC005340 RN5S472 APPROVED pseudo 43372 6481646 RNA5SP470 RNA, 5S ribosomal pseudogene 470 100873713 AC011505;NG_033698 RN5S470 APPROVED pseudo 43370 INFERRED 6481649 RNA5SP474 RNA, 5S ribosomal pseudogene 474 100873716 AL121890 RN5S474 APPROVED pseudo 43374 6481656 RNA5SP475 RNA, 5S ribosomal pseudogene 475 100873717 AL049633 RN5S475 APPROVED pseudo 43375 6481653 RNA5SP476 RNA, 5S ribosomal pseudogene 476 100873718 AL121893;NG_033708 RN5S476 APPROVED pseudo 43376 INFERRED 6481652 RNA5SP477 RNA, 5S ribosomal pseudogene 477 100873719 AL121759;NG_033710 RN5S477 APPROVED pseudo 43377 INFERRED 6482084 RNA5SP48 RNA, 5S ribosomal pseudogene 48 100873287 AL445685;NG_033377 RN5S48 APPROVED pseudo 42824 INFERRED 6481655 RNA5SP479 RNA, 5S ribosomal pseudogene 479 100873721 AL096677 RN5S479 APPROVED pseudo 43379 6481658 RNA5SP478 RNA, 5S ribosomal pseudogene 478 100873720 AL118508;NG_033712 RN5S478 APPROVED pseudo 43378 INFERRED 6481657 RNA5SP481 RNA, 5S ribosomal pseudogene 481 100873723 AL031658 RN5S481 APPROVED pseudo 43381 6481654 RNA5SP480 RNA, 5S ribosomal pseudogene 480 100873722 AL031650 RN5S480 APPROVED pseudo 43380 6481659 RNA5SP482 RNA, 5S ribosomal pseudogene 482 100873724 AL031658;AL353092 RN5S482 APPROVED pseudo 43382 6481666 RNA5SP483 RNA, 5S ribosomal pseudogene 483 100873725 AL121753;NG_033721 RN5S483 APPROVED pseudo 43383 INFERRED 6481664 RNA5SP484 RNA, 5S ribosomal pseudogene 484 100873726 AL050317;NG_033723 RN5S484 APPROVED pseudo 43384 INFERRED 6481662 RNA5SP485 RNA, 5S ribosomal pseudogene 485 100873727 AL031663;NG_033725 RN5S485 APPROVED pseudo 43385 INFERRED 6481663 RNA5SP486 RNA, 5S ribosomal pseudogene 486 100873728 AL121777;NG_033281 RN5S486 APPROVED pseudo 43386 INFERRED 6481661 RNA5SP487 RNA, 5S ribosomal pseudogene 487 100873729 AL139824;NG_033283 RN5S487 APPROVED pseudo 43387 INFERRED 6481660 RNA5SP488 RNA, 5S ribosomal pseudogene 488 100873730 AP001347;NG_033285 RN5S488 APPROVED pseudo 43388 INFERRED 6482089 RNA5SP49 RNA, 5S ribosomal pseudogene 49 100873288 AC096543;NG_033379 RN5S49 APPROVED pseudo 42825 INFERRED 6481582 RNA5SP489 RNA, 5S ribosomal pseudogene 489 100873731 AP001341;NG_033287 RN5S489 APPROVED pseudo 43389 INFERRED 6481583 RNA5SP490 RNA, 5S ribosomal pseudogene 490 100873732 AP000274 RN5S490 APPROVED pseudo 43390 6481581 RNA5SP491 RNA, 5S ribosomal pseudogene 491 100873733 AP000700 RN5S491 APPROVED pseudo 43391 6481580 RNA5SP492 RNA, 5S ribosomal pseudogene 492 100873734 AP001622 RN5S492 APPROVED pseudo 43392 6481585 RNA5SP493 RNA, 5S ribosomal pseudogene 493 100873735 AP000555 RN5S493 APPROVED pseudo 43393 6481584 RNA5SP494 RNA, 5S ribosomal pseudogene 494 100873736 AL022329 RN5S494 APPROVED pseudo 43394 6481589 RNA5SP495 RNA, 5S ribosomal pseudogene 495 100873737 AL078460 RN5S495 APPROVED pseudo 43395 6481588 RNA5SP496 RNA, 5S ribosomal pseudogene 496 100873738 AC002073;NG_033301 RN5S496 APPROVED pseudo 43396 INFERRED 6481794 RNA5SP502 RNA, 5S ribosomal pseudogene 502 100873553 AL109797;NG_033398 RN5S502 APPROVED pseudo 43402 INFERRED 6481795 RNA5SP501 RNA, 5S ribosomal pseudogene 501 100873552 AC078957;NG_033396 RN5S501 APPROVED pseudo 43401 INFERRED 6481797 RNA5SP503 RNA, 5S ribosomal pseudogene 503 100873554 AL683817 RN5S503 APPROVED pseudo 43403 6481799 RNA5SP504 RNA, 5S ribosomal pseudogene 504 100873555 AL450023 RN5S504 APPROVED pseudo 43404 6481798 RNA5SP505 RNA, 5S ribosomal pseudogene 505 100873556 AL732374 RN5S505 APPROVED pseudo 43405 6481796 RNA5SP500 RNA, 5S ribosomal pseudogene 500 100873551 AC121344 RN5S500 APPROVED pseudo 43400 6481790 RNA5SP499 RNA, 5S ribosomal pseudogene 499 100873550 AC119618 RN5S499 APPROVED pseudo 43399 6481591 RNA5SP497 RNA, 5S ribosomal pseudogene 497 100873739 Z75744 RN5S497 APPROVED pseudo 43397 6481803 RNA5SP506 RNA, 5S ribosomal pseudogene 506 100873557 AL158069;NG_033406 RN5S506 APPROVED pseudo 43406 INFERRED 6481802 RNA5SP509 RNA, 5S ribosomal pseudogene 509 100873560 AL662914 RN5S509 APPROVED pseudo 43409 6481804 RNA5SP508 RNA, 5S ribosomal pseudogene 508 100873559 NG_033410;Z98255 RN5S508 APPROVED pseudo 43408 INFERRED 6481800 RNA5SP507 RNA, 5S ribosomal pseudogene 507 100873558 AL357752;NG_033408 RN5S507 APPROVED pseudo 43407 INFERRED 6482086 RNA5SP51 RNA, 5S ribosomal pseudogene 51 100873289 AL359971;NG_033381 RN5S51 APPROVED pseudo 42828 INFERRED 6481801 RNA5SP510 RNA, 5S ribosomal pseudogene 510 100873561 AL591342 RN5S510 APPROVED pseudo 43410 6481809 RNA5SP511 RNA, 5S ribosomal pseudogene 511 100873562 Z75896 RN5S511 APPROVED pseudo 43411 6481806 RNA5SP512 RNA, 5S ribosomal pseudogene 512 100873563 AL096764;NG_033418 RN5S512 APPROVED pseudo 43412 INFERRED 6481805 RNA5SP513 RNA, 5S ribosomal pseudogene 513 100873564 AL022577;NG_033420 RN5S513 APPROVED pseudo 43413 INFERRED 6481811 RNA5SP514 RNA, 5S ribosomal pseudogene 514 100873565 AL008629 RN5S514 APPROVED pseudo 43414 6481807 RNA5SP515 RNA, 5S ribosomal pseudogene 515 100873566 AL450472 RN5S515 APPROVED pseudo 43415 6481810 RNA5SP517 RNA, 5S ribosomal pseudogene 517 100873568 AL109654 RN5S517 APPROVED pseudo 43417 6482091 RNA5SP54 RNA, 5S ribosomal pseudogene 54 100873292 AL360270;NG_033387 RN5S54 APPROVED pseudo 42831 INFERRED 6482088 RNA5SP53 RNA, 5S ribosomal pseudogene 53 100873291 AC095034;NG_033385 RN5S53 APPROVED pseudo 42830 INFERRED 6481817 RNA5SP518 RNA, 5S ribosomal pseudogene 518 100873569 AC006987 RN5S518 APPROVED pseudo 43418 6482085 RNA5SP52 RNA, 5S ribosomal pseudogene 52 100873290 AC104838;NG_033383 RN5S52 APPROVED pseudo 42829 INFERRED 6481808 RNA5SP516 RNA, 5S ribosomal pseudogene 516 100873567 AL109620 RN5S516 APPROVED pseudo 43416 6481812 RNA5SP519 RNA, 5S ribosomal pseudogene 519 100873570 AC006987 RN5S519 APPROVED pseudo 43419 6482090 RNA5SP55 RNA, 5S ribosomal pseudogene 55 100873293 AL445231;NG_033389 RN5S55 APPROVED pseudo 42832 INFERRED 6482093 RNA5SP56 RNA, 5S ribosomal pseudogene 56 100873294 AL391557;NG_033391 RN5S56 APPROVED pseudo 42833 INFERRED 6481981 RNA5SP60 RNA, 5S ribosomal pseudogene 60 100873295 AL035403;NG_033393 RN5S60 APPROVED pseudo 42837 INFERRED 6481984 RNA5SP62 RNA, 5S ribosomal pseudogene 62 100873297 AL513307 RN5S62 APPROVED pseudo 42839 6481985 RNA5SP64 RNA, 5S ribosomal pseudogene 64 100873299 AL606495 RN5S64 APPROVED pseudo 42841 6481983 RNA5SP61 RNA, 5S ribosomal pseudogene 61 100873296 AL512785;NG_033395 RN5S61 APPROVED pseudo 42838 INFERRED 6481987 RNA5SP63 RNA, 5S ribosomal pseudogene 63 100873298 AL513307 RN5S63 APPROVED pseudo 42840 6481989 RNA5SP65 RNA, 5S ribosomal pseudogene 65 100873300 AL158837 RN5S65 APPROVED pseudo 42842 6481986 RNA5SP66 RNA, 5S ribosomal pseudogene 66 100873301 AL031726;NG_033405 RN5S66 APPROVED pseudo 42843 INFERRED 6481990 RNA5SP67 RNA, 5S ribosomal pseudogene 67 100873302 AL136170;NG_033407 RN5S67 APPROVED pseudo 42844 INFERRED 6481991 RNA5SP72 RNA, 5S ribosomal pseudogene 72 100873306 AL109865;NG_033415 RN5S72 APPROVED pseudo 42849 INFERRED 6481992 RNA5SP69 RNA, 5S ribosomal pseudogene 69 100873304 AL513013;NG_033411 RN5S69 APPROVED pseudo 42846 INFERRED 6481994 RNA5SP71 RNA, 5S ribosomal pseudogene 71 100873305 AL450304;NG_033413 RN5S71 APPROVED pseudo 42848 INFERRED 6481988 RNA5SP68 RNA, 5S ribosomal pseudogene 68 100873303 AL136170;NG_033409 RN5S68 APPROVED pseudo 42845 INFERRED 6481996 RNA5SP73 RNA, 5S ribosomal pseudogene 73 100873307 AL136371;NG_033417 RN5S73 APPROVED pseudo 42850 INFERRED 6481995 RNA5SP75 RNA, 5S ribosomal pseudogene 75 100873309 AL161793 RN5S75 APPROVED pseudo 42852 6481993 RNA5SP74 RNA, 5S ribosomal pseudogene 74 100873308 AL512306;NG_033419 RN5S74 APPROVED pseudo 42851 INFERRED 6481997 RNA5SP76 RNA, 5S ribosomal pseudogene 76 100873310 AC096643 RN5S76 APPROVED pseudo 42853 6481999 RNA5SP78 RNA, 5S ribosomal pseudogene 78 100873312 AL121990;NG_033427 RN5S78 APPROVED pseudo 42855 INFERRED 6481998 RNA5SP77 RNA, 5S ribosomal pseudogene 77 100873311 AL451054;NG_033425 RN5S77 APPROVED pseudo 42854 INFERRED 6482000 RNA5SP79 RNA, 5S ribosomal pseudogene 79 100873313 AL118511;NG_033429 RN5S79 APPROVED pseudo 42856 INFERRED 6482001 RNA5SP80 RNA, 5S ribosomal pseudogene 80 100873314 AL117352 RN5S80 APPROVED pseudo 42857 6482002 RNA5SP82 RNA, 5S ribosomal pseudogene 82 100873316 AL390728 RN5S82 APPROVED pseudo 42859 6482007 RNA5SP81 RNA, 5S ribosomal pseudogene 81 100873315 AL591686;NG_033433 RN5S81 APPROVED pseudo 42858 INFERRED 6482003 RNA5SP84 RNA, 5S ribosomal pseudogene 84 100873317 AC011994 RN5S84 APPROVED pseudo 42882 6482006 RNA5SP85 RNA, 5S ribosomal pseudogene 85 100873318 AC011994 RN5S85 APPROVED pseudo 42883 6482005 RNA5SP87 RNA, 5S ribosomal pseudogene 87 100873320 AC096570;NG_033443 RN5S87 APPROVED pseudo 42885 INFERRED 6482004 RNA5SP86 RNA, 5S ribosomal pseudogene 86 100873319 AC007041;NG_033441 RN5S86 APPROVED pseudo 42884 INFERRED 6482008 RNA5SP88 RNA, 5S ribosomal pseudogene 88 100873321 AC093798;NG_033446 RN5S88 APPROVED pseudo 42886 INFERRED 6482009 RNA5SP90 RNA, 5S ribosomal pseudogene 90 100873323 AC015980 RN5S90 APPROVED pseudo 42888 6482010 RNA5SP89 RNA, 5S ribosomal pseudogene 89 100873322 AC074011;NG_033448 RN5S89 APPROVED pseudo 42887 INFERRED 6482016 RNA5SP91 RNA, 5S ribosomal pseudogene 91 100873324 AC019127 RN5S91 APPROVED pseudo 42889 6482011 RNA5SP93 RNA, 5S ribosomal pseudogene 93 100873326 AC007743 RN5S93 APPROVED pseudo 42891 6482014 RNA5SP92 RNA, 5S ribosomal pseudogene 92 100873325 AC019127 RN5S92 APPROVED pseudo 42890 6482013 RNA5SP95 RNA, 5S ribosomal pseudogene 95 100873328 AC010733;NG_033460 RN5S95 APPROVED pseudo 42893 INFERRED 6482017 RNA5SP96 RNA, 5S ribosomal pseudogene 96 100873329 AC112230;NG_033462 RN5S96 APPROVED pseudo 42894 INFERRED 6482015 RNA5SP94 RNA, 5S ribosomal pseudogene 94 100873327 AC007100;NG_033458 RN5S94 APPROVED pseudo 42892 INFERRED 6482012 RNA5SP97 RNA, 5S ribosomal pseudogene 97 100873330 AC073046;NG_033464 RN5S97 APPROVED pseudo 42895 INFERRED 6482021 RNA5SP98 RNA, 5S ribosomal pseudogene 98 100873331 AC068048 RN5S98 APPROVED pseudo 42896 1353641 RNASE12 ribonuclease, RNase A family, 12 (non-active) 14 14 14 q11.1 919115 919858 - 20128279 20128722 - 21058239 21058982 - 15676279;12477932 493901 Q5GAN4 ABBA01061233;AL163195;AMYH01005590;AW274139;AY665807;BC130347;BC130349;NM_001024822 AAI30348;AAI30350;AAV87185;ADR82836;NP_001019993;Q5GAN4 Hs.729466 OTTHUMP00000244826;probable inactive ribonuclease-like protein 12;ribonuclease-like protein 12 protein-coding ENSG00000258436 24211 18667 VALIDATED 1344390 RNASE13 ribonuclease, RNase A family, 13 (non-active) 14 14 14 q11.1 1361842 1363807 - 20570819 20572784 - 21500979 21502944 - 6480464 15676279;12477932 440163 Q5GAN3 ABBA01061239;AL161668;AMYH01005593;AY665808;BC044831;NM_001012264 AAH44831;AAV87186;NP_001012264;Q5GAN3 Hs.666729 OTTHUMP00000245139;probable inactive ribonuclease-like protein 13;ribonuclease 13;ribonuclease-like protein 13 protein-coding ENSG00000206150 25285 17980 VALIDATED 1347818 RNASE10 ribonuclease, RNase A family, 10 (non-active) 14 14 14 q11.2 839505 840155 + 20048471 20049121 + 20978631 20979281 + 6480464 15676279;12920233;12477932 338879 B4DKY4;Q5GAN6 ABBA01061230;AK296766;AL355075;AMYH01005590;AY665805;BC133002;BC133028;CH471078;NM_001012975 AAI33003;AAI33029;AAV87183;BAG59346;EAW66457;NP_001012993;Q5GAN6 Hs.451057 1717031;5020274 L18441;RH124078 RNASE9 OTTHUMP00000244810;inactive ribonuclease-like protein 10;ribonuclease 10;ribonuclease-like protein 10 protein-coding ENSG00000182545 19275 18495 PROVISIONAL 1349318 RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 14 14 q24-q31 20493470 20494434 + 21423630 21424594 + 1580863;6480464 2734298;12855582;19115260;19014520;18636464;18195069;17965582;17927842;17641730;17351112;16428483;16014847;15755456;15528350;15489334;15356558;12606041;12578357;12477932;11959927;11916383;11876642;11311552;11282395;11154698;11102386;10741866;9620664;9450956;8759319;8471426;7947762;7547911;3926759;3458170;3182786;3166997;2745977;2591744;2387583;1587793;1577491;1464733;19717523;21666788;20570966;15161933;21680952 6036 P10153 ABBA01061237;AF294007;AF294008;AF294009;AF294010;AF294011;AF294012;AF294013;AF294014;AF294015;AJ408458;AL355922;AMYH01005593;BC093678;BC093680;BC096059;CH471078;M24157;M28129;M30510;NM_002934;X16546;X55987;X55988 AAA50284;AAA52337;AAC82505;AAG31577;AAG31578;AAG31579;AAG31580;AAG31581;AAG31582;AAG31583;AAG31584;AAG31585;AAH93678;AAH93680;AAH96059;CAA34546;CAA39459;CAA39460;CAC27640;EAW66435;NP_002925;P10153 Hs.728 1767483;5015354;5023397;5492819;5493527 D14S1192;D14S1288;RH69113;UniSTS:482837;UniSTS:487018 ECP;EDN;RNS2 OTTHUMP00000028293;RNase 2;RNase UpI-2;eosinophil-derived neurotoxin;non-secretory ribonuclease;ribonuclease 2;ribonuclease US protein-coding ENSG00000169385 10045 00577 131410 VALIDATED 1352667 RNASE3 ribonuclease, RNase A family, 3 14 14 q24-q31 20429402 20430347 + 21359562 21360507 + 1580863;6480464;6907045 17885861;3520144;2745977;10706854;19542456;19476022;19450231;19366593;19284504;19133919;19014520;18716399;18593710;18345486;18293932;18087674;17944807;17927842;17852809;17804567;17726151;17675527;17587163;17573858;17507019;17362255;17250693;17223693;17088327;16879306;16014847;16010966;15928844;15489334;15317478;15295703;15007353;14630983;12974194;12530121;12524255;12477932;12356310;12100059;11959927;11552948;11404391;11102386;11034418;10903870;10606511;10336457;3458170;2501794;2473157;2387583;1577491;1464733;22845733;21183182;20213669;20307883;19566743;20523065;18657051;19189375;19521893;19639743;19692640;19717523;19760211;20089176;20170318;20534163;21038779;19086659;16874959;21878071;16883790;20951760;21303303;23135272;22579681;21962901;21666788;23406588;23597768;22145905;23517396;22216286;22289536;22845717 6037 P12724 ABBA01061237;AF294019;AF294020;AF294021;AF294022;AF294023;AF294024;AF294025;AF294026;AF441204;AF441205;AF441206;AL133371;AMYH01005593;BC096060;BC096061;BC096062;BX280390;CH471078;M28128;NM_002935;X15161;X16545;X55990 AAA50283;AAG31589;AAG31590;AAG31591;AAG31592;AAG31593;AAG31594;AAG31595;AAG31596;AAH96060;AAH96061;AAH96062;AAL35279;AAL35280;AAL35281;CAA33251;CAA34545;CAA39462;EAW66436;NP_002926;P12724 Hs.73839 5015354;5023397;5492819;5493527 D14S1192;D14S1288;UniSTS:482837;UniSTS:487018 ECP;RNS3 OTTHUMP00000164017;RNase 3;cytotoxic ribonuclease;eosinophil cationic protein;ribonuclease 3 APPROVED protein-coding ENSG00000169397 10046 00575 131398 VALIDATED 1320822 RNASE1 ribonuclease, RNase A family, 1 (pancreatic) This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 14 14 q11.2 20339355 20340876 - 21269515 21271036 - 1580863;6480464 8049276;18029348;18495155;18219569;17705507;17627168;17350650;17234723;17224235;17109515;16780873;16751256;16738129;16597833;16114055;16054567;15528350;15489334;12939146;12626415;12477932;12237131;12210760;12022038;11848924;11591351;11412105;11342552;11264578;11021969;10632727;9311977;8588814;8280059;7649283;7492594;6201087;3202829;2383019;2049798;1741299;1587793;19156888;21103661;21408145;21767499;23135272;20352290;21988832;23251661;22190034 6035 G3V357;Q9UCB5 ABBA01061235;AI400223;AK098375;AK129871;AK312100;AL133371;AMYH01005591;AV710596;BC005324;BC022882;BF106121;BG539567;BI599530;BI753463;BI760598;BM007311;BM919747;BP385178;CB993343;CD703706;CH471078;CR450318;DQ494867;NM_002933;NM_198232;NM_198234;NM_198235;S79281;X62946;X79235 AAB35096;AAH05324;AAH22882;ABF00144;BAG35036;CAA44718;CAA55817;CAG29314;EAW66437;EAW66438;NP_002924;NP_937875;NP_937877;NP_937878;P07998 Hs.78224 1672070 D14S1332 MGC12408;RIB1;RNS1 HP-RNase;OTTHUMP00000028291;OTTHUMP00000164025;OTTHUMP00000244934;OTTHUMP00000244935;OTTHUMP00000244936;RIB-1;RNase 1;RNase A;RNase upI-1;ribonuclease 1;ribonuclease A;ribonuclease pancreatic APPROVED protein-coding ENSG00000129538 10044 01591 180440 REVIEWED 1602837 RNASE11 ribonuclease, RNase A family, 11 (non-active) 14 14 14 q11.2 911926 919293 - 20120891 20128257 - 21051051 21058417 - 6480464 15676279;15489334;14702039;12975309;12477932;21832049;22505724 122651 C9JHH6;C9JYR4;G3V3W8;G3V5L6;Q5GAN5;Q8TAA1 ABBA01061232;ABBA01061233;AI809974;AK098687;AK292348;AK314065;AL163195;AMYH01005590;AY358794;AY665806;BC025410;BX161458;CB995247;CH471078;CS072280;HC007256;HC044637;NM_145250 AAH25410;AAQ89154;AAV87184;BAC05378;BAF85037;BAG36768;CAD61920;CAI93418;CBH19433;CBH30648;EAW66455;EAW66456;NP_660293;Q8TAA1 Hs.112761 1680771;1700166 RH103696;RH93852 C14orf6 OTTHUMP00000028263;OTTHUMP00000164012;OTTHUMP00000164013;OTTHUMP00000164014;OTTHUMP00000164016;RNase 11;probable ribonuclease 11;ribonuclease 11 protein-coding ENSG00000173464 19269 15257 VALIDATED 1604714 RNASEH1P1 ribonuclease H1 pseudogene 1 17 17 17 p11.2 21735817 21736617 + 20745782 20746782 - 20805289 20806089 - 12036296;11856317;9799596;21145461 284203 ABBA01050452;AC090774;AMYH01008265;NG_004111 RNASEH1;RNASEH1P;RNH1 pseudo 10049 INFERRED 1345490 RNASEH1P2 ribonuclease H1 pseudogene 2 17 17 17 p11.2 16489608 16490436 + 16527340 16528368 + 16586716 16587544 + 12036296 390766 ABBA01035647;AC098850;AMYH01008152;NG_004110 pseudo 18715 INFERRED 1352107 RNASEH1P3 ribonuclease H1 pseudogene 3 1 1 1 q32.2 183700404 183701546 + 208543553 208544608 + 210477021 210478163 + 12036296 199827 ABBA01048202;AL035414;AMYH01001696;NG_001567 pseudo 18716 INFERRED 1353668 RNASE8 ribonuclease, RNase A family, 8 14 14 14 q11.2 1386941 1387405 + 20595892 20596356 + 21526052 21526516 + 1580863;6480464 11861908;17116644;12477932;22272736 122665 Q8TDE3 ABBA01061239;AF473854;AL161668;AMYH01005593;BC137537;BC137538;CH471078;NM_138331 AAI37538;AAI37539;AAL89644;EAW66417;NP_612204;Q8TDE3 Hs.553572 2219638;2220526 RNASE8__5509;UniSTS:484106 OTTHUMP00000164403;RNase 8, placental;ribonuclease 8 protein-coding 19277 17982 612485 PROVISIONAL 1353772 RNASE6 ribonuclease, RNase A family, k6 14 14 14 q11.2 1110074 1111490 + 20319050 20320466 + 21249210 21250626 + 1580863;6480464 8836175;15676279;15489334;12477932;9647635;16169070;17207965 6039 Q6IB39;Q93091 ABBA01061235;AI151384;AK313580;AL133371;AMYH01005590;BC020848;CH471078;CR456965;NM_005615;U64998 AAC51848;AAH20848;ADQ32201;BAG36350;CAG33246;EAW66440;EAW66441;EAW66442;NP_005606;Q93091 Hs.23262 1652224;1656174;2167847 D14S1291;G35567;G36118 RNS6;RNasek6 OTTHUMP00000028283;ribonuclease K6 protein-coding ENSG00000169413 10048 03581 601981 VALIDATED 6481090 RNASEH2B-AS1 RNASEH2B antisense RNA 1 13 51456514 51484848 - 100874255 ABBA01051041;AL137881;AMYH01005115;BF574759;NR_046552 Hs.741501 APPROVED miscrna ENSG00000233672 39967 PREDICTED 736007 RNASE4 ribonuclease, RNase A family, 4 The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Jul 2008] 14 14 q11 20222212 20238598 + 21152372 21168758 + 1580863;6480464 7742370;15489334;14702039;12477932;11752456;9878400;9366257;8223579;7501448;3467790;20532202 6038 P34096;Q53XB4 ABBA01061234;AK092422;AL163636;AMYH01005590;BC015520;BX247985;BX248010;CB051790;CH471078;D37931;NG_008717;NG_033053;NM_002937;NM_194431;U36775 AAA96750;AAH15520;BAA07150;BAG52550;CAD62319;CAD62338;EAW66448;NP_002928;NP_919412;P34096 Hs.283749 1668881;1741145;1778575;1797174;1854290;2127676;2150507;2150509;2172847;2176438;2185370;5021407;5093106 A006H30;A009G09;D14S1204;D14S1338;G20814;G32523;G36057;GDB:178381;RH1630;RH68464;RH78342;RNASE4;SHGC-35580 MGC9306;RNS4 OTTHUMP00000164022;OTTHUMP00000164023;OTTHUMP00000164024;OTTHUMP00000244878;RNase 4;ribonuclease 4 APPROVED protein-coding ENSG00000181784;ENSG00000258818 10047 03018 601030 REVIEWED 1343484 RNASE9 ribonuclease, RNase A family, 9 (non-active) 14 14 14 q11.2 885131 889969 - 20094092 20098930 - 21024252 21029090 - 6480464 18992174;15974301;15676279;12920233;12508121;12477932;22219177 390443 P60153 ABBA01061232;AF382949;AL163195;AMYH01005590;AY665804;AY907670;BC130311;BC130313;EF061296;EF061297;EF061298;EF061299;EF061300;EF061301;EF061302;EF061303;EF061304;EU414264;NM_001001673;NM_001110356;NM_001110357;NM_001110358;NM_001110359;NM_001110360;NM_001110361 AAI30312;AAI30314;AAQ02792;AAV87182;AAX86045;ABP97451;ABP97452;ABP97453;ABP97454;ABP97455;ABP97456;ABP97457;ABP97458;ABP97459;ACA49544;ADR83498;NP_001001673;NP_001103826;NP_001103827;NP_001103828;NP_001103829;NP_001103830;NP_001103831;P60153 Hs.533972 2107787 h461__7562 HEL128;h461 OTTHUMP00000244811;OTTHUMP00000244812;OTTHUMP00000244813;OTTHUMP00000244815;OTTHUMP00000244816;OTTHUMP00000244817;OTTHUMP00000244818;OTTHUMP00000244819;OTTHUMP00000244820;inactive ribonuclease-like protein 9;ribonuclear enzyme;ribonuclease 9;ribonuclease-like protein 9 protein-coding ENSG00000188655 20673 17983 614014 PROVISIONAL 1344446 RNASE7 ribonuclease, RNase A family, 7 RNASE7 is a member of the RNase A superfamily that has broad-spectrum antimicrobial activity and ribonuclease activity (Harder and Schroder, 2002 [PubMed 12244054]; Zhang et al., 2003 [PubMed 12527768]).[supplied by OMIM, Dec 2008] 14 14 q11.2 20580225 20582232 + 21510385 21512392 + 1580863;6480464 12244054;19366593;16344560;15676279;15489334;12975309;12527768;12477932;19262607;19641608;19919305;20668470;21139048 84659 Q9H1E1 ABBA01061239;AI150610;AJ131212;AJ306608;AJ306609;AJ306610;AK292697;AL161668;AMYH01005593;AY170392;AY359097;BC074960;BC112334;CH471078;DB153740;NM_032572 AAH74960;AAI12335;AAO12510;AAQ89455;BAF85386;CAC20410;CAC84457;CAC84458;CAC84462;EAW66418;EAW66419;NP_115961;Q9H1E1 Hs.525206 1791300;2220406;2220434 PMC101240P1;UniSTS:481510;UniSTS:482103 MGC133220 OTTHUMP00000195134;RNase 7;SAP-2;ribonuclease 7;skin-derived antimicrobial protein 2 APPROVED protein-coding ENSG00000165799 19278 17981 612484 VALIDATED 3232389 RNASEH2CP1 ribonuclease H2, subunit C pseudogene 1 Y Y Y p11.31 88847053 88847623 + 2717788 2718962 + 2657867 2658437 + 7633446;8244390 386608 ABBA01069747;AC006040;NG_011584;NG_011751 5021628;5115620;5115622 SRY-1-1;SRY-1-2;SRY-1-3 AYP1p1 pseudo 24117 INFERRED 1319116 RNASEH1 ribonuclease H1 2 2 p25 3570553 3583815 - 3592678 3605940 - 1580863;6480464;6907045 9799596;18337749;17964265;17028158;17028157;16303743;15815621;15489334;15205459;14960586;14702039;14506260;12667461;12477932;12473655;12036296;11856317;10497183;9894807;9512096;20877624;20843780;21443203;19322201;21988832;23078533 246243 B3KUD4;E5KN15;F8WBP0;F8WD93;O60930 ABBA01006103;ABBA01006104;AC108488;AF039652;AF048994;AF048995;AJ224117;AK075490;AK096913;AMYH01010070;BC002973;BI553044;BT019670;CH471053;CR541820;HQ205106;HQ205107;HQ205108;HQ205109;HQ205110;HQ205111;HQ205112;HQ205113;HQ205114;HQ205115;HQ205116;HQ205117;HQ205118;HQ205119;HQ205120;HQ205121;HQ205122;HQ205123;HQ205124;HQ205125;HQ205126;HQ205127;HQ205128;HQ205129;HQ205130;HQ205131;HQ205132;HQ205133;HQ205134;HQ205135;HQ205136;HQ205137;HQ205138;HQ205139;HQ205140;HQ205141;HQ205142;HQ205143;HQ205144;HQ205145;NM_002936 AAC09261;AAC78563;AAC78564;AAH02973;AAV38476;AAX82026;ABM83523;ABM86750;ADP90574;ADP90575;ADP90576;ADP90577;ADP90578;ADP90579;ADP90580;ADP90581;ADP90582;ADP90583;ADP90584;ADP90585;ADP90586;ADP90587;ADP90588;ADP90589;ADP90590;ADP90591;ADP90592;ADP90593;ADP90594;ADP90595;ADP90596;ADP90597;ADP90598;ADP90599;ADP90600;ADP90601;ADP90602;ADP90603;ADP90604;ADP90605;ADP90606;ADP90607;ADP90608;ADP90609;ADP90610;ADP90611;ADP90612;ADP90613;BAG52156;BAG53396;CAA11835;CAG46619;EAX01061;NP_002927;O60930 Hs.568006 H1RNA;RNH1 OTTHUMP00000115314;RNase H1;ribonuclease H type II;ribonuclease H1 protein-coding ENSG00000171865 18466 04989 604123 VALIDATED 6904306 RNASEK-C17orf49 RNASEK-C17orf49 readthrough This locus represents naturally occurring read-through transcription between the neighboring RNASEK (ribonuclease, RNase K) and C17orf49 (chromosome 17 open reading frame 49) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jan 2011] 17 p 6915736 6920843 + 11181995;12477932;20967262 100529209 H0YIS7 ABBA01054845;AC040977;AMYH01008065;BC040148;CH471108;NR_037717 AAH40148;EAW90276;EAW90277;EAW90279 Hs.511801 5111633 RH81058 APPROVED miscrna 44419 VALIDATED 1604138 RNASEK ribonuclease, RNase K 17 17 17 p13.1 6941303 6943356 + 6856522 6858575 + 6915736 6917852 + 6480464 16712791;17881363;12477932;11181995;19913121;20628086;16341674;22324914;21890473 440400 F8W1G5;H0YHM1;H0YIM4;H0YIU3;I3L285;Q6P5S7 AA633512;AA843796;ABBA01054845;AC040977;AK289930;AM746459;AMYH01008065;BC032510;BC036317;BC051802;BC062705;BC070349;BC095436;BM835723;BQ223829;CB160051;CD176288;CH471108;NM_001004333;NR_037715;NR_037716 AAH51802;AAH62705;AAH95436;BAF82619;CAN89245;EAW90275;NP_001004333;Q6P5S7 Hs.632232 2140410;5015961 D15S1477;SGC33235 MGC48891;MGC71993 17881363;OTTHUMP00000243060;RNase K;RNase kappa;ribonuclease kappa protein-coding ENSG00000219200 33911 17568 VALIDATED 1346643 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008] 1 1 q25 180809395 180822731 - 182542769 182558394 - 1599614;1580863;2292000;2291997;2291998;6480464;6907045;7240710 12415269;16054567;15330212;15040862 20410264;21665181;7514601;19267370;19252527;19223501;19088502;18767027;18676870;18676680;18575592;18566991;18436282;18295551;18289577;18189233;17908993;17407163;17400356;17307214;17237228;17234723;17224235;17200614;17150764;17115900;17020975;16944274;16869093;16627618;16537704;16235172;16234235;16203993;16166078;16156900;16114055;15981205;15908960;15849753;15824169;15714208;15534086;15107989;14695991;14570908;12915880;12653398;12624151;12590567;12477932;12167701;12145743;12118002;12073768;12034027;12022038;11941539;11799394;11585831;11333017;11063255;10708513;10454983;9862963;9856285;9497242;9366257;8910276;7688298;7680958;7539425;7514564;1565627;20564318;20576793;20588308;16344560;20875083;19170196;19625176;19692168;19760027;19851509;19853919;19961052;20086112;20331378;22513284;19923450;22925698;23109342;21685539;22691533;22083266;22464196;21139048;21221811;19245366;21846818;21656378;23113544;23098452;23084743;23412934;23196181 6041 Q05823;Q6AI46 ABBA01027763;AF172072;AK315231;AL138776;AMYH01001549;AW968304;BC090934;BC114433;BC115697;BQ003187;BQ006347;BU940316;BX097443;CB268440;CH471067;CR627369;DA127960;DQ352452;L10381;NG_009024;NM_021133 AAA18032;AAH90934;AAI14434;AAI15698;ABC74581;CAH10468;EAW91128;NP_066956;Q05823 Hs.518545 1661233;2122297 SHGC-54540;SHGC-76018 DKFZp781D08126;MGC104972;MGC133329;PRCA1;RNS4 2',5'-oligoisoadenylate synthetase-dependent;2-5A-dependent RNase;2-5A-dependent ribonuclease;OTTHUMP00000033148;RNase L;interferon-induced 2-5A-dependent RNase;ribonuclease 4 2293407;2301800;2301801;2301802;2301835;2301894 PRSTS277_H;PRSTS417_H;PRSTS418_H;PRSTS426_H;PRSTS427_H;PRSTS428_H APPROVED protein-coding ENSG00000135828 10050 01590 180435;601518 REVIEWED 1316328 RNASEH2A ribonuclease H2, subunit A The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009] 19 19 19 p13.2 12807135 12814169 + 12778428 12785462 + 12917428 12924462 + 1580863;6480464;6907045;7240710 9789007;16845400;15489334;12477932;8889548;21454563;17846997;19015152;19139135;22863883;22939629;21963094;17623298;21139048;21890473;21906983;21987572;20301648;22505724 10535 O75792;Q6UQL6 ABBA01029772;AC020934;AK315327;AMYH01009496;AY363912;BC011748;BE560339;BG825340;BM664190;CB240995;CH471106;CR456841;NG_012662;NM_006397;Z97029 AAH11748;AAQ64005;BAG37728;CAB09725;CAG33122;EAW84313;NP_006388;O75792 Hs.532851 2158842 RH15924 AGS4;JUNB;RNASEHI;RNHIA;RNHL RNase H(35);RNase H2 subunit A;RNase HI large subunit;aicardi-Goutieres syndrome 4 protein;ribonuclease H2 subunit A;ribonuclease H2, large subunit;ribonuclease HI large subunit;ribonuclease HI subunit A;ribonuclease HI, large subunit APPROVED protein-coding ENSG00000104889 18518 06914 606034;610333 REVIEWED 1604574 RNASEH2C ribonuclease H2, subunit C This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62812157 62815292 - 65241720 65244985 - 65485144 65488409 - 6480464;6907045;7240710 19015152;17846997;16845400;15489334;14702039;12477932;8244390;8125298;20383146;21963094;21987572;21139048;21890473;21906983;20301648;22939629 84153 E9PKP0;E9PN81;H0YCP5;H0YE52;H0YEF3;Q8TDP1 ABBA01024105;AF312034;AF346605;AF346606;AK024627;AK225131;AK297660;AMYH01003724;AP001266;BC000831;BC023588;BC061891;BM921525;CH471076;L08647;NG_008976;NG_033057;NM_032193 AAH23588;AAL87739;AAO49176;AAO49177;ABM83203;ABM86403;BAB14937;BAG60026;EAW74433;EAW74434;EAW74435;NP_115569;Q8TDP1 Hs.718438 1670455;1676009;1680052;1721733;2108159;2150232;2151675;2163941;2177784;5113920 G59731;HSC0AE062;HTATIP_7974;IB3011;RH18259;RH80901;RH92615;RH99016;STS-U40989;WI-17347 AGS3;AYP1;FLJ20974;MGC22934 OTTHUMP00000233670;OTTHUMP00000233673;OTTHUMP00000233674;OTTHUMP00000233675;RNase H1 small subunit;RNase H2 subunit C;aicardi-Goutieres syndrome 3 protein;ribonuclease H2 subunit C;ribonuclease HI subunit C APPROVED protein-coding ENSG00000172922 24116 16531 610329;610330 REVIEWED 1606240 RNASEH2B ribonuclease H2, subunit B RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008] 13 13 13 q14.3 32532888 32593597 + 50381928 50428901 + 51483814 51544596 + 6480464;6907045;7240710 19015152;18422679;17213182;16845400;16344560;15908569;15489334;15057823;14702039;12477932;8125298;19120481;22939629;22882256;22863883;18029348;20301648;21139048;21890473;21862834 79621 G3XAJ1;Q5TBB1;Q8N451 ABBA01051041;AK021774;AK022667;AK124228;AK223340;AL137881;AMYH01005115;AY764036;BC001397;BC005088;BC007332;BC010174;BC036744;BI837927;BX328027;BX330672;BX382357;CA309004;CH471075;DB221997;DT216141;NG_009055;NM_001142279;NM_024570 AAH01397;AAH05088;AAH07332;AAH10174;AAH36744;AAX13343;ADZ15721;BAB13892;BAD97060;EAX08863;EAX08864;NP_001135751;NP_078846;Q5TBB1 Hs.306291 1686032;1761943;1761945;2152322;2163414;2180207 RH93578;SHGC-145876;SHGC-145878;STS-N22307;STS-R68581;WI-11665 AGS2;DLEU8;FLJ11712 Aicardi-Goutieres syndrome 2 protein;OTTHUMP00000018436;RNase H2 subunit B;deleted in leukemia 8 protein;deleted in lymphocytic leukemia 8;ribonuclease H2 subunit B;ribonuclease HI subunit B APPROVED protein-coding ENSG00000136104 25671 610181;610326 REVIEWED 5013867 RNF103-CHMP3 RNF103-CHMP3 readthrough This locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011] 2 p 86730553 86948245 - 20967262 100526767 Q9NZ51 ABBA01075783;ABBA01075784;ABBA01075785;ABBA01075786;ABBA01075787;ABBA01075788;AC015971;AC064848;AC068288;AK294389;AMYH01010499;AMYH01010500;AMYH01010501;AMYH01010502;AMYH01010503;AMYH01010504;AMYH01010505;AMYH01010506;NM_001198954 BAG57645;NP_001185883 Hs.591582 2125981;2139720 RH69455;SGC31339 FLJ58988;RNF103-VPS24 OTTHUMP00000219056;RNF103-CHMP3 protein;RNF103-CHMP3 read-through;RNF103-VPS24 fusion protein;RNF103-VPS24 read-through transcript;RNF103-VPS24 readthrough APPROVED protein-coding ENSG00000115561;ENSG00000249884 38847 VALIDATED 6908270 RNF10P1 ring finger protein 10 pseudogene 1 3 5110312 5110926 - 100419599 ABBA01020462;AC090955;AMYH01012951;NG_025552 pseudo 44472 INFERRED 1314903 RND1 Rho family GTPase 1 Members of the Rho GTPase family, such as RND1, regulate the organization of the actin cytoskeleton in response to extracellular growth factors (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM, Mar 2008] 12 12 q12 47537197 47545920 - 49250916 49259653 - 1580863;6480464 9531558;11095956;10664463;18996843;17916560;16311049;15738000;15489334;12730235;12477932;11980706;11940653;11786539;11108845;12842009;15297673;22807448;22357615;16188938;19843518;20980621;21610070;18255255;21926972 27289 F8VXU4;H0YHG7;Q92730 AB040147;ABBA01031490;AC117498;AF498967;AK124288;AK292762;AL359573;AMYH01004435;BC026356;CH471111;N79562;NM_014470;Y07923 AAH26356;AAM21114;BAB17851;BAF85451;CAA69228;EAW58019;NP_055285;Q92730 Hs.124940 1736268;2217908;5022576;5022578;5022651;5037552 D11S2921;D12S1224E;D1S1361;D1S1423;D8S2279;RHO6_1726 ARHS;FLJ42294;RHO6;RHOS GTP-binding protein;OTTHUMP00000243692;ras homolog gene family, member S;rho-related GTP-binding protein Rho6 APPROVED protein-coding ENSG00000172602 18314 12357 609038 VALIDATED 1320518 RNASET2 ribonuclease T2 This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008] 6 6 q27 167262994 167290067 - 167343004 167370077 - 1580863;6480464;7240710 9192857;19525954;18543608;16620762;15809705;15489334;14702039;14574404;12477932;11821951;11314033;22939629;21446958;16712791;20526339;19382914;20601676;21199949;22732457;22735700;21646684;21890473;23000965;21994792;21841780;22188480;23630276;23128233;23258633 8635 D6REQ6;D6RHI9;J3QQ64;O00584 ABBA01033435;AJ419865;AJ419866;AJ419867;AK001769;AK124363;AK315467;AL133458;AL159163;AMYH01016852;BC001660;BC001819;BC019871;BC036282;BC039713;BC041056;BC051912;CB130245;CH471051;NG_016280;NM_003730;U85625 AAC51363;AAH01660;AAH01819;AAH39713;AAH51912;BAG37854;CAD12030;CAD12031;CAD12032;EAW47511;EAW47512;EAW47513;EAW47514;EAW47515;EAW47516;EAW47517;EAW47518;EAW47519;NP_003721;O00584 Hs.529989 1666900;1773164;1851735;2136964;2178774 A007H48;AL022449;RH12526;SHGC-32979;WI-15078 FLJ42372;RNASE6PL;RP11-514O12.3;bA514O12.3 OTTHUMP00000017608;OTTHUMP00000219255;OTTHUMP00000219415;OTTHUMP00000219416;OTTHUMP00000219417;OTTHUMP00000219421;ribonuclease 6;ribonuclease T2 APPROVED protein-coding ENSG00000026297 21686 10197 612944;612951 REVIEWED 1346063 RND2 Rho family GTPase 2 This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008] 17 17 17 q21 37834115 37840915 + 38430784 38437584 + 41177258 41184058 + 6480464 8938427;12590651;16481321;16311049;16189514;15489334;14702039;12477932;12244061;11940653;11931639;9531558;8889548;1909153;12730235;12842009;22807448;14732713;21989022 8153 F5H2U5;P52198 AB209778;ABBA01006393;AC135721;AF498968;AK096367;AK290199;AMYH01008401;AMYH01008402;BC018096;BC094842;BC104986;BC104990;BT019394;BU687800;CH471152;DB502558;L78833;NG_005905;NM_005440;X95456 AAC37595;AAH94842;AAI04987;AAI04991;AAM21115;AAV38201;BAD93015;BAF82888;CAA64726;EAW60919;EAW60920;NP_005431;P52198 Hs.603111 1691004;2119240;2176024;5014051;5037552;5491669 D8S2278;D8S2279;MARC_7249-7250:996687691:1;RH69062;RH98686;SHGC-30296 ARHN;RHO7;RhoN GTP-binding protein Rho7;ras homolog gene family, member N;rho-related GTP-binding protein Rho7;rho-related GTP-binding protein RhoN APPROVED protein-coding ENSG00000108830 18315 03332 601555 REVIEWED 1351005 RND3 Rho family GTPase 3 This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 2 2 q23.3 151032955 151052426 - 151324707 151344209 - 6480464 8649376;9531558;19244113;19101510;18946488;18923151;18721871;18204440;18045987;17182035;17174923;16311049;15777789;15754346;15489334;12842009;12773565;12477932;12163169;11940653;8889548;12730235;15778465;22807448;19850923;21109974;20683643;21209796;22454524;23622247;21917148;22132820;21478267;22477709;22037464;22213123;22272352;22357615;21139048;22238593;22251971;22234932;23630292;23472165;22829315 390 B2R838;E9PFH1;P61587;Q53RZ3 ABBA01004755;AC074097;AC093738;AF498969;AK298007;AK299731;AK309442;AK313224;AL702945;AMYH01011166;BC012513;BQ440721;BT006769;BX460517;CF127383;CH471058;CR542038;CR542070;DC367501;NM_001254738;NM_005168;S82240;X95282;X97758 AAB47133;AAH12513;AAM21116;AAP35415;AAX88953;AAY15014;ABM81591;ABM81592;ABM84773;ABW03618;BAG36035;BAG60312;BAG61629;CAA64603;CAA66352;CAG46835;CAG46867;EAX11524;EAX11525;EAX11526;EAX11527;EAX11528;NP_001241667;NP_005159;P61587 Hs.6838;Hs.713765 1647449;1714533;1723909;1775849;1797296;2172990;5096167 A004G10;A008Z31;ARHE_2407;RH119467;RH119779;RH12568;RH68892 ARHE;Rho8;RhoE;memB OTTHUMP00000162684;OTTHUMP00000162685;OTTHUMP00000204380;OTTHUMP00000204381;protein MemB;ras homolog gene family, member E;rho-related GTP-binding protein Rho8;rho-related GTP-binding protein RhoE;small GTP binding protein Rho8 APPROVED protein-coding ENSG00000115963 671 04233 602924 VALIDATED 1314582 RNF11 ring finger protein 11 The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008] 1 1 p32 51474533 51511707 + 51701945 51739119 + 1580863;6480464 10673045;14755250;19131965;18724389;18615712;17917589;16925951;16344560;16123141;15489334;15231748;14562029;14559117;12477932;12107109;11042109;10810093;22507528;21832049;19549727;19690564;20676133;21076409;23222715;23308279;22975135;21139048;19953087;19528490;21988832;23018911 26994 Q9Y3C5 AA224090;AB024703;ABBA01074808;ABBA01074809;AF151881;AI817633;AK293047;AK313140;AL049294;AL162430;AMYH01000612;AMYH01000613;BC020964;BC036670;BC047654;CH471059;DB265274;DB564333;NM_014372 AAD34118;AAH20964;AAH47654;ADZ16002;BAA84683;BAF85736;BAG35959;EAX06830;EAX06831;NP_055187;Q9Y3C5 Hs.309641 1339066;1664443;1767025;1798090;2175188;7187538 D1S232;G16048;RNF11_793.2;SHGC-152673;SHGC-30255 CGI-123;MGC51169;SID1669 OTTHUMP00000009895;RING finger protein 11 APPROVED protein-coding ENSG00000123091 10056 09955 612598 REVIEWED 1319543 RNF10 ring finger protein 10 The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 120606443 120649686 + 119456515 119499780 + 120972132 121015397 + 1580863;6480464 16335786;16344560;16169070;15489334;14702039;12477932;12168954;10697961;9039502;18541383;19549727;16341674;18941509;21044950;18624398;21139048;21890473;22939624;23000965;23028342;22493164;21424732 9921 F5H3A4;F5H510;F5H5P6;F5H5Z1;H0YF69;H0YFN9;H0YFQ9;H0YG28;H0YGL7;H0YGX5;H0YH05;Q8N5U6 AB027196;ABBA01020128;ABBA01020129;AC063943;AK094011;AK097807;AK126274;AK301608;AK315558;AL389976;AL578551;AMYH01004803;BC016622;BC031596;BC101709;BC101715;BC143493;BM828423;BQ015862;BT006974;CH471054;D87451;DA103961;DB526099;NM_014868 AAH16622;AAH31596;AAI01710;AAI01716;AAP35620;AAP36359;ABM84731;ABM92251;BAA13392;BAA84708;BAG37934;BAG52797;BAG53531;BAG54301;BAG63094;CAB97533;EAW98200;EAW98201;EAW98202;EAW98203;EAW98204;NP_055683;Q8N5U6 Hs.442798 1669379;1736236;1736246;1796692;1851135;2134656;2149049;2152641;2163103;2171089;2176224 A007E11;D12S1147E;D12S1173E;D12S1196E;RH17496;RH45155;RH46538;RNF10_792;SGC35167;SHGC-33949;SHGC-64103 KIAA0262;MGC126758;MGC126764;RIE2 OTTHUMP00000239906;OTTHUMP00000239907;RING finger protein 10 APPROVED protein-coding ENSG00000022840 10055 11496 REVIEWED 68995 RNF112 ring finger protein 112 This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16727296 16733394 + 19255116 19261181 + 19314491 19320589 + 61520;1580863;6480464 8660987 12477932;10574464;9806830;9096764;8889548;19850743 7732 J3QRB8;Q9ULX5 AB026054;ABBA01054609;AC004448;AF054587;AI952967;AK226052;AK293508;AK309372;AK313844;AMYH01008233;BC038896;BC053989;BE297851;BM973713;CH471212;NM_007148 AAC08584;AAH53989;ABZ92256;BAA84698;BAG56992;EAW50891;EAW50892;NP_009079;Q9ULX5 Hs.189482 2108659 ZNF179_8748 BFP;FLJ99413;ZNF179 RING finger protein 112;brain finger protein;zinc finger protein 179 APPROVED protein-coding ENSG00000128482 12968 03140 601237 REVIEWED 2301489 RNF11P1 ring finger protein 11 pseudogene 1 2 2 2 q32.2 184388023 184390701 - 190503245 190503981 - 190793087 190795768 - 100131695 ABBA01062381;AC019178;AMYH01011344;NG_008707 pseudo 33988 INFERRED 1351517 RNF11P2 ring finger protein 11 pseudogene 2 20 20 20 p12.1 14603168 14603606 - 14475731 14476369 - 14527831 14528269 - 170543 ABBA01053984;AL121582;AMYH01011728;NG_001052 RNF11B;bA280O9.1 ring finger protein 11b, pseudogene pseudo 16535 INFERRED 1349364 RNF103 ring finger protein 103 The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011] 2 2 2 p11.2 86658407 86678870 - 86684027 86704489 - 86830516 86851000 - 1580863;6480464 9070305;18675248;18615712;15815621;15489334;14702039;12658376;12477932;11071867;10500182;19690564;16275323;16344560;8889548;21906983;16215985 7844 O00237 AB052743;ABBA01075785;AC015971;AI150469;AK122978;AK314180;AMYH01010502;AW964704;BC022477;BC035053;BC110333;BQ018198;CA312650;CD109559;CH471053;D76444;DA816879;NM_001198951;NM_001198952;NM_005667 AAH35053;AAI10334;AAX93079;ABZ92266;BAA19739;BAB20900;BAG36861;EAW99446;EAW99447;NP_001185880;NP_001185881;NP_005658;O00237 Hs.731426;Hs.733319 1687271;2191501;2218592;5021726;5024413;5037552;5109281;5118444 D11S3316;D1S1425;D8S2279;L17877;MARC_24177-24178:1033563974:1;RH98920;RNF103_1303.3;ksks91 KF-1;KF1;MGC102815;MGC41857;ZFP-103;ZFP103 E3 ubiquitin-protein ligase RNF103;KF-1;OTTHUMP00000203333;RING finger protein 103;Zinc finger protein expressed in cerebellum;zfp-103;zinc finger protein 103 homolog APPROVED protein-coding ENSG00000239305 12859 03939 602507 REVIEWED 1344435 RNF113A ring finger protein 113A This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010] X X X q25-q26 119459140 119460436 - 118888466 118889818 - 119004495 119005791 - 1580863;6480464 22493164;17081983;15772651;15489334;15345747;12477932;9224902;19690564;21044950;22365833 7737 O15541 ABBA01036619;AC002477;AF086291;AK314778;AMYH01022886;AW001915;BC000832;BC020556;BT007175;CH471161;CS185534;NG_009381;NG_021227;NM_006978;X98253 AAB67605;AAH00832;AAH20556;AAP35839;BAG37314;CAA66907;CAJ42715;EAW89841;NP_008909;O15541 Hs.458365 2150568;2164082 RH47820;SHGC-57117 Cwc24;RNF113;ZNF183 OTTHUMP00000023925;RING finger protein 113A;zinc finger protein 183 (RING finger, C3HC4 type) APPROVED protein-coding ENSG00000125352 12974 06760 REVIEWED 1320805 RNF111 ring finger protein 111 The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 15 15 q21 57067157 57176546 + 59279865 59389618 + 1580863;6480464;6484113 12477932;18059455;17591695;17510063;16601693;15489334;15231748;14702039;14657019;11516970;11298453;11298452;18950738;15146197;16344560;22411132;19690564;19898560;20936779;19959502;19549727;21182207;20965945;23086935;23212909;18029348;21795712;21998011;21252943;21139048;21693764;18451154;23530056;21963094;22939624;23394999;23455922;23246292;22493164;22916037;23467611;23751493 54778 H0YKK5;H0YKS2;H0YLK9;Q8WUA3 ABBA01038970;ABBA01038971;ABBA01038972;AC025918;AC092757;AI189975;AK095327;AK131304;AK131488;AL157474;AL832089;AMYH01006683;BC010369;BC020984;BC060862;BM986870;BX538130;BX647259;CH471082;CN420669;DA720863;N24855;NM_001270528;NM_001270529;NM_001270530;NM_017610 AAH10369;AAH20984;AAH60862;BAC04531;BAD18471;BAD18633;CAB75669;CAD98031;EAW77554;EAW77555;EAW77556;EAW77557;EAW77558;EAW77559;EAW77560;EAW77561;EAW77562;NP_001257457;NP_001257458;NP_001257459;NP_060080;Q6ZNA4 Hs.404423;Hs.603489;Hs.741727 1674940;1674942;1752427;1761561;1776069;1796694;2120734 HSC2GC092;RH70120;RNF111_1287;SHGC-106322;SHGC-145559;STS-W80457;WI-14720 ARK;DKFZp313E0731;DKFZp686H1966;DKFZp761D081;FLJ38008 Arkadia;E3 ubiquitin-protein ligase Arkadia;OTTHUMP00000163571 APPROVED protein-coding ENSG00000157450 17384 09318 605840 REVIEWED 1352774 RNF113B ring finger protein 113B 13 13 13 q32.2 79675250 79676732 - 97626040 97627522 - 98828039 98829521 - 15489334;15057823;12477932;19549727;19690564;22493164 140432 Q8IZP6 ABBA01027148;AF539427;AI935007;AL136300;AMYH01005320;BC017585;BC025388;CH471085;NM_178861 AAH17585;AAH25388;AAN33063;ABZ92100;EAX08983;NP_849192;Q8IZP6 Hs.296045 MGC26599;RNF161;ZNF183L1;bA10G5.1 OTTHUMP00000018586;RING finger protein 113B;zinc finger protein 183-like 1 protein-coding ENSG00000139797 17267 15745 VALIDATED 1313271 RNF115 ring finger protein 115 1 1 1 q21.1 119814376 119891801 + 144322393 144400084 + 145611036 145688776 + 1580863;6480464 17462600;16925951;16710414;16288031;15489334;12972561;12477932;11591653;16123141;19690564;18819927;20019814;20237496;20379614;21832049;18781797;21987572;22850893;21139048;21890473;19322201;22315970;23000965;23242606;23418353;22505724;22844532 27246 F5H4I2;H0YG75;Q9Y4L5 ABBA01005739;ABBA01005740;ABBA01005741;AC239808;AC242845;AF419857;AF542552;AK290749;AL079312;AL079314;AL160282;AL390725;AMYH01001373;BC054049;BC064903;BG684824;CH471244;CQ834134;HY099262;NM_014455 AAH54049;AAH64903;AAP97292;AAQ09535;ABZ92156;ABZ92320;ACT64467;ACT64468;BAF83438;CAB45280;CAH05282;CAI13717;EAW71437;EAW71438;NP_055270;Q9Y4L5 Hs.523550 1336580;1645187;1671874;1700968;1705964;1775149;2162529;7185576 D1S442;G23710;RH104111;RH65408;SHGC-56583;SHGC-75411;SHGC-79691 BCA2;ZNF364 E3 ubiquitin-protein ligase RNF115;OTTHUMP00000015602;RING finger protein 115;rabring 7;zinc finger protein 364 protein-coding 18154 18328 VALIDATED 1317294 RNF121 ring finger protein 121 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008] 11 11 11 q13.4 68941723 69010615 + 71317731 71386291 + 71639768 71708643 + 6480464 16344560;15489334;15146197;14702039;12477932 55298 B3KSW8;C9JQY5;E9PKE9;E9PLR7;E9PN80;E9PRV6;F8WDV7;G3V148;H0YEH6;Q9H920 ABBA01017544;AI291325;AK001961;AK023139;AK094508;AL833638;AMYH01003790;AP002490;BC009672;BC063680;BC093084;BC117273;BG328761;BG428563;BX463021;CH471076;CN392009;CQ834452;CQ834588;CR457298;DA209781;DA694800;NM_018320;NR_024147;NR_024148 AAH09672;AAH63680;AAI17274;AAI41465;BAA92002;BAB14423;BAG52880;CAG33579;CAH05441;CAH05509;EAW74807;EAW74808;EAW74809;EAW74810;EAW74811;NP_060790;Q9H920 Hs.368554 1687423;1737259;1857612;2140792;2184252;2217910 D11S3124;RH46542;RH79689;RNF121_1642;STS-AA026901;STS-AA027055 FLJ11099 OTTHUMP00000211317;OTTHUMP00000236445;RING finger protein 121 APPROVED protein-coding ENSG00000137522 21070 11497 REVIEWED 1347456 RNF126P1 ring finger protein 126 pseudogene 1 17 17 17 q22 51584412 51585729 + 52477838 52479155 + 55122839 55124156 + 737633;6480464 12477932 376412 ABBA01041310;AC007114;AMYH01008502;BC033555;NR_002818 Hs.132299 pseudo ENSG00000261192 30340 PROVISIONAL 1349716 RNF114 ring finger protein 114 20 20 20 q13.13 45257483 45274988 + 47986321 48003829 + 48552914 48570422 + 1580863;6480464 11256614;19615732;19285159;18364390;15489334;14702039;12621547;12477932;11780052;9110174;8619474;16169070;20953189;19549727;19690564;17207965;20515446;16341674;22939629;16196087;21571784;22205304;21139048;21890473;21906983;21900206;21987572;22493164;22505724 55905 Q9Y508 ABBA01052761;ABBA01052762;ABBA01052763;AF131742;AF265215;AK091976;AK097265;AK297188;AK301731;AK315638;AL031685;AMYH01011969;AMYH01011970;BC013695;BC066919;BM830132;BT006795;BX640603;CH471077;NM_018683 AAF75763;AAH13695;AAH66919;AAP35441;ADQ31574;BAG38006;BAG59677;BAG63197;CAE45709;EAW75641;EAW75642;EAW75643;EAW75644;NP_061153;Q9Y508 Hs.144949 1688438;2110931;2130815;2152398;2165365;2183530;5015861;5109281;7185938 D10S16;D1S1425;D20S134E;D20S584E;RH11676;RH64159;RH79656;WI-12090 PSORS12;ZNF313 OTTHUMP00000031257;RING finger protein 114;zinc finger protein 228;zinc finger protein 313 protein-coding ENSG00000124226 13094 10329 612451 VALIDATED 1352221 RNF122 ring finger protein 122 The encoded protein contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The encoded protein is localized to the endoplasmic reticulum and golgi apparatus, and may be associated with cell viability. [provided by RefSeq, Jul 2013] 8 8 8 p12 32354976 32374346 - 33524815 33544185 - 33405273 33424643 - 6480464 16778963;16751333;16344560;15489334;14702039;12477932;10737800;8744354;7601449;19690564;20553626;19322201;21890473;21906983;21963094;22505724 79845 Q9H9V4 ABBA01023608;AC013603;AK022588;AMYH01018633;AU124463;BC093884;BC101573;BF847236;CH471080;D38656;DA610129;DA904646;NM_024787 AAH93884;AAI01574;BAB14115;EAW63395;NP_079063;Q9H9V4 Hs.151237 1798092 RNF122_1853 FLJ12526;MGC126622 OTTHUMP00000225468;RING finger protein 122 APPROVED protein-coding ENSG00000133874 21147 11498 REVIEWED 1315557 RNF125 ring finger protein 125, E3 ubiquitin protein ligase This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012] 18 18 18 q12.1 26404874 26460130 + 27852443 27907152 + 29598445 29653154 + 1580863;6480464;6907045 8125298;17990982;17643463;15843525;15489334;14702039;12974981;12477932;8744354;19549727;17719635;23105109;21906983;21571784;22493164;22632162 54941 J3QQW8;Q96EQ8 ABBA01022494;ABBA01022495;ABBA01022496;ABBA01022497;AC009831;AC011825;AK000463;AK027134;AK225518;AMYH01008928;BC012021;BI666910;BM469263;BU500546;CH471088;NM_017831 AAH12021;BAA91182;EAX01278;NP_060301;Q96EQ8 Hs.633703 2114124;5014063;5015879;5015961;5016478;5016596;5037552;5109281;5117897 AB060918;D15S1390;D15S1477;D1S1425;D8S2279;GDB:314949;GDB:434012;GDB:631802;GDB:631813 FLJ20456;MGC21737;TRAC-1;TRAC1 E3 ubiquitin-protein ligase RNF125;OTTHUMP00000163102;T-cell RING activation protein 1;T-cell ring protein identified in activation screen;TRAC-1 APPROVED protein-coding ENSG00000101695 21150 11500 610432 REVIEWED 1350672 RNF123 ring finger protein 123 The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. [provided by RefSeq, Feb 2012] 3 3 3 p24.3 49691681 49723653 + 49701994 49733966 + 49726950 49758962 + 1580863;6480464 17353931;16381901;16227581;15746103;15531880;15498874;15489336;15489334;15231748;14702039;12477932;11256614;11230166;11076863;17148452;20307617;23287719;21355095;22863883;22145905;22688066;16344560;21987572;21139048;21890473;21906983;21982424;23000965;23077635;22505724 63891 C9J266;C9JI97;C9JN91;C9JS59;F8WB91;H7C3U1;Q9H5L8 ABBA01024577;AC099668;AF370367;AK022627;AK026968;AK090632;AK096353;AK126883;AK308130;AK308607;AL136729;AL832034;AL832138;AL832344;AMYH01013162;AY744152;BC041145;BC057392;BC088801;BC112900;BC130632;CR627051;DA334003;NG_011603;NM_022064 AAH41145;AAH57392;AAH88801;AAI30633;AAQ15203;AAU93470;BAB14139;BAB15607;BAG53271;CAB66663;CAL37940;NP_071347;Q5XPI4 Hs.553723 1667970;1675610;1684495;1712112;1741309;1766361;1852317;1856980;2106421;2117546;2130433;2153948;2177221;2191315 A004P45;A005X28;A007E08;AMIGO3__4297;D3S3810;G54105;GDB:180399;MARC_17265-17266:1024683815:1;RH15941;RH65603;RH78233;RH78461;RH91732;SHGC-149700 DKFZp686C2222;FLJ12565;FP1477;KPC1;MGC163504 E3 ubiquitin-protein ligase RNF123;OTTHUMP00000210942;kip1 ubiquitination-promoting complex protein 1;ubiquitin ligase APPROVED protein-coding ENSG00000164068 21148 11499 614472 REVIEWED 1314381 RNF126 ring finger protein 126 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 154322 170071 + 598526 614227 - 647526 663233 - 6480464 14667819;16189514;15489334;14702039;12477932;8744354;19549727;23105109;23383273;22992278;16196087;12938929;18775313;21139048;21900206;21987572;22118674;23246001;23349634;23418353;22493164;23277564;22190034;23026136 55658 A8K0Q1;K7EIY6;K7EJQ3;Q9BV68 ABBA01002580;AC004156;AC004449;AK000559;AK289616;AL360265;AMYH01009195;AMYH01009196;BC001442;BC025374;BG773910;BM558139;BM810439;CA440294;CH471242;NG_016713;NM_194460 AAC06149;AAH01442;AAH25374;BAA91254;BAF82305;CAB96178;EAW61167;EAW61168;EAW61169;EAW61170;EAW61171;EAW61172;EAW61173;NP_919442;Q9BV68 Hs.69554 1677312;1798094;2191121 MARC_14879-14880:1010077235:1;RH93336;RNF126_1973 FLJ20552;MGC1022;MGC14317 E3 ubiquitin-protein ligase RNF126;RING finger protein 126 APPROVED protein-coding ENSG00000070423 21151 11501 615177 REVIEWED 1347730 RNF138P1 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1 5 5 5 q11.2 51778783 51784483 - 54860427 54866127 - 54824670 54830370 - 737633 12477932 14702039 379013 ABBA01015743;AC025777;AMYH01015090;BC040295;NR_001575 Hs.745164 5015619;5017227;5022200 D11S3114;G38154;L18426 APPROVED pseudo 30342 PROVISIONAL 1603197 RNF128 ring finger protein 128, E3 ubiquitin protein ligase The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] X X X q22.3 106408414 106511630 + 105823724 105926902 + 105937068 106040246 + 6480464 19542455;19414743;18713730;18467499;17475842;17259178;15772651;15489334;14702039;14661020;12705856;12477932;18641297;19549727;17207965;17114425;22493164 79589 Q5JSK4;Q8TEB7 ABBA01035806;ABBA01035807;ABBA01035808;ABBA01035809;ABBA01035810;ABBA01035811;ABBA01035812;ABBA01035813;ABBA01035814;ABBA01035815;ABBA01035816;ABBA01035817;ABBA01035818;ABBA01035819;ABBA01035820;ABBA01035821;AF394689;AK027169;AK074264;AK126553;AL391315;AL606833;AMYH01022826;BC012931;BC030951;BC036901;BC056677;BC063404;BI600046;CH471120;NG_012576;NM_024539;NM_194463 AAH30951;AAH56677;AAH63404;AAK77554;ADQ32615;BAB15682;BAB85033;BAC86589;EAX02737;NP_078815;NP_919445;Q8TEB7 Hs.496542 1335207;1339662;1699396;1751587;1773488;1798096 DXS8048;DXS8097;RH103289;RNF128_2495;SHGC-105584;SHGC-33056 FLJ23516;GRAIL E3 ubiquitin-protein ligase RNF128;OTTHUMP00000023786;OTTHUMP00000023787;OTTHUMP00000023788;gene related to anergy in lymphocytes protein APPROVED protein-coding ENSG00000133135 21153 02340 300439 REVIEWED 7247678 RNF139-AS1 RNF139 antisense RNA 1 (head to head) 100507018 ABBA01037896;ABBA01037897;AC090192;AC090198;AMYH01019008;XR_108884;XR_113169;XR_171749 Hs.633137 miscrna ENSG00000245149 48940 MODEL 1343865 RNF130 ring finger protein 130 The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q35.3 175007667 175124334 - 179315080 179431715 - 179382474 179499109 - 6480464 16549277;15761153;15489334;13679316;12477932;10806348;16169070;18029348;19690564;21347282;16797685;7566098;21139048;21150319;22505724 55819 E5RI87;H0YBD3;J3KN31;Q86XS8 AA339219;AB209800;ABBA01010049;ABBA01010050;ABBA01010051;ABBA01010052;ABBA01010053;AC010285;AC026413;AC122713;AF155650;AK313089;AL515761;AMYH01015961;AMYH01015962;AY083998;BC017100;BC065244;BC082267;BC108306;BC113864;BC114472;BP390145;BQ447530;BX404014;CH471165;DB572650;NM_001280801;NM_018434 AAF67007;AAH17100;AAH65244;AAH82267;AAI08307;AAI13865;AAI14473;AAM08686;BAD93037;BAG35914;EAW53772;EAW53773;EAW53774;EAW53775;NP_001267730;NP_060904;Q86XS8 Hs.484363 1661750;1668958;1694776;1706512;1780754;2175762 D5S1449;D5S2637;G43603;RH48384;SHGC-81227;bac51953S G1RZFP;GOLIATH;GP;MGC117241;MGC138647;MGC99542 E3 ubiquitin-protein ligase RNF130;H-Goliath;OTTHUMP00000161515;OTTHUMP00000224297;OTTHUMP00000224298;g1-related zinc finger protein;goliath homolog APPROVED protein-coding ENSG00000113269 18280 11504 REVIEWED 1350521 RNF133 ring finger protein 133 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008] 7 7 7 q31.32 117142067 117143509 - 122125002 122126444 - 122337766 122339208 - 15489334;14702039;12853948;12690205;12477932;9847074;8744354;20379614;19549727;17207965 168433 Q8WVZ7 AACC02000001;ABBA01057744;AC004594;AC006009;AC006463;AC015983;AC091438;AF447589;AK098524;AMYH01017899;BC022038;CH236947;CH471070;HC007258;HC044719;NG_016215;NM_139175 AAH22038;AAM22872;AAQ96858;ACT64488;ACT64489;ADQ31679;BAC05321;CBH19434;CBH30689;EAL24341;EAW83577;NP_631914;Q8WVZ7 Hs.126730 1796696;2113710 AB070023;RNF133_1733r1 MGC27072 E3 ubiquitin-protein ligase RNF133;OTTHUMP00000211453 APPROVED protein-coding ENSG00000188050 21154 11505 REVIEWED 1351392 RNF13 ring finger protein 13 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008] 3 3 3 q25.1 147943825 148093287 + 151013165 151162616 + 149530475 149679926 + 1580863;6480464 18029348;18794910;16344560;16166738;15489334;14702039;12477932;9110174;8619474;8610176;22890573;20230530;19690564;16712791;19292867;21139048;22505724 11342 B3KR12;C9IY58;C9J383;C9J7B4;C9J8T4;C9JCY0;C9JRV0;C9JU37;C9JYN7;C9JYY4;F8W989;F8WDJ5;F8WEX6;H7C5Q6;O43567 ABBA01058936;ABBA01058937;ABBA01058938;ABBA01058939;AC069216;AC117395;AF037204;AF070558;AK090638;AK090771;AK313304;AMYH01013572;BC009781;BC009803;BC017878;BG030058;BG546092;BG708380;BM556246;BQ424702;BU077446;CB109037;CH471052;CR456804;DA031838;NM_007282;NM_183381 AAC03769;AAC28641;AAH09781;AAH09803;AAH17878;ABZ92304;ADZ15726;BAG36109;BAG52202;BAG52224;CAG33085;EAW78858;EAW78859;EAW78860;EAW78861;EAW78862;EAW78863;NP_009213;NP_899237;O43567 Hs.12333 1654899;1796702;2139390;2146067;5091307;5113486 A004H09;A008P47;RH25558;RNF13_723;SHGC-37453;SHGC-77433 FLJ93817;MGC13689;RZF E3 ubiquitin-protein ligase RNF13;OTTHUMP00000197095;OTTHUMP00000216206;RING finger protein 13;RING zinc finger protein APPROVED protein-coding ENSG00000082996 10057 11503 609247 REVIEWED 1313173 RNF135 ring finger protein 135 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 26218879 26247850 + 26322082 26351053 + 29297956 29326929 + 6480464;7240710 19291764;19017631;18391951;17632510;15489334;15334068;14702039;12696059;12477932;11468690;8125298;16344560;19484123;19881509;20546612;11002417;22797925 84282 H7C3H8;J3QS68;K7EQF1;Q8IUD6 AB470605;ABBA01014973;ABBA01014974;ABBA01014975;ABBA01014976;ABBA01014977;AC138207;AI634044;AJ496729;AK122646;AK122709;AK226030;AK312979;AMYH01008318;AMYH01008319;AY598332;BC005084;BC082262;BC126420;BC126422;BC144143;CH471147;DA878616;NG_011701;NM_001184992;NM_032322;NM_197939 AAH05084;AAI26421;AAI26423;AAT06743;BAG35816;BAG53638;BAG53681;BAG84604;CAD43140;EAW80286;NP_001171921;NP_115698;NP_922921;Q8IUD6 Hs.29874 2126671 UniSTS:494596 L13;MGC13061;MMFD;REUL;Riplet E3 ubiquitin-protein ligase RNF135;OTTHUMP00000163764;OTTHUMP00000163766;OTTHUMP00000163767;RIG-I E3 ubiquitin ligase;RING finger protein 135 APPROVED protein-coding ENSG00000181481 21158 11506 611358;614192 REVIEWED 6770178 RNF144A-AS1 RNF144A antisense RNA 1 2 p25.2 7052407 7058813 - 14702039 386597 ABBA01023896;AC017076;AK057135;AK090737;AMYH01010087;AMYH01010088;NR_033997 Hs.559010 1721285;5015961;5016700;5022322;5037552 D11S2560;D15S1477;D8S2279;G59639;RH79802 APPROVED miscrna ENSG00000228203 30963 VALIDATED 1605080 RNF138 ring finger protein 138, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 26478784 26518455 + 27925835 27965522 + 29671818 29711524 + 6480464 16344560;21145461;19322201;16714285;16713569;16189514;15489334;14702039;12477932;8744354;20379614;19549727;21832049;22155992;22493164 51444 J3KRU4;J3KSI2;J3QKM8;J3QLQ3;Q8WVD3 ABBA01022491;ABBA01022492;AC011825;AF162680;AK023579;AK315761;AL133557;AMYH01008928;BC018107;BI461242;BI463820;BM564125;BT006878;BU662580;CH471088;CR457150;DA752192;DB091985;DB452430;NG_029944;NM_001191324;NM_016271;NM_198128 AAD46623;AAH18107;AAP35524;ABM81670;ABM84840;BAB14614;BAG38114;CAB63712;CAG33431;EAX01280;EAX01281;EAX01282;EAX01283;NP_001178253;NP_057355;NP_937761;Q8WVD3 Hs.302408 1682822;1687728;1689370;1690013;1796700;5093134 G32540;RH39230;RH39261;RH47733;RH67231;RNF138_1666 HSD-4;MGC8758;NARF;STRIN;hNARF E3 ubiquitin-protein ligase RNF138;NLK-associated RING finger protein;Nemo-like kinase-associated RING finger protein;OTTHUMP00000163100;OTTHUMP00000163101;hNARF;nemo-like kinase associated ring finger protein APPROVED protein-coding ENSG00000134758 17765 11508 REVIEWED 1315417 RNF139 ring finger protein 139 The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008] 8 8 8 q24 121675173 121688974 + 125556189 125570040 + 125487008 125500859 + 1599629;2289870;6480464;7240710 9689122;17539022 10500182;12032852;17081983;17016439;15489334;14702039;12477932;8889548;19706601;19720873;20068067;19549727;19690564;23223569;21343306;22143767;22689053 11236 E5RH85;Q8WU17 AA455970;ABBA01037897;ABBA01037898;AC090198;AF064800;AF064801;AK001602;AK025043;AK098519;AMYH01019008;BC021571;BC064636;BI562637;BM677460;BM804626;CD171728;CH471060;CQ871298;NG_012158;NM_007218 AAC39930;AAC39931;AAH21571;AAH64636;BAG50947;CAH56830;EAW92064;NP_009149;Q8WU17 Hs.744151 1735732;1793366;1793368;1793370;1793372;1793374;1793376;1793378;1793380;1793382;1793384;1793386;1793388;1793390;1793392;1793394;1798100;2146731;2170227;2190565 D8S1351E;EST3C7;PMC21380P1;PMC21380P10;PMC21380P11;PMC21380P12;PMC21380P13;PMC21380P14;PMC21380P15;PMC21380P2;PMC21380P3;PMC21380P4;PMC21380P5;PMC21380P6;PMC21380P7;PMC21380P8;PMC21380P9;RH12544;RH48564;RNF139_1825 HRCA1;MGC31961;RCA1;TRC8 E3 ubiquitin-protein ligase RNF139;OTTHUMP00000228351;RING finger protein 139;multiple membrane spanning receptor TRC8;patched related protein translocated in renal cancer;translocation in renal carcinoma on chromosome 8 protein APPROVED protein-coding 17023 04333 144700;603046 REVIEWED 1343789 RNF144A ring finger protein 144A The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Jul 2008] 2 2 2 p25.2 6970459 7097185 + 6974974 7101761 + 7057523 7184310 + 1580863;6480464 10942595;16344560;15489334;12477932;10431818;8889548;8724849;11722579;12411495;20195266;20379614;19549727;23105109;22184113;22493164 9781 C9JLH4;H7C3G0;P50876 ABBA01023896;ABBA01023897;AC017076;AC068481;AK293854;AMYH01010088;BC035051;BC050373;BM550396;BM931543;BQ219370;BQ423668;BQ427820;BQ574061;CD101678;CH471053;D79983;DA234807;NM_014746 AAH50373;AAX82010;ABZ92280;BAA11478;BAG57251;EAX01029;EAX01030;EAX01031;EAX01032;NP_055561;P50876 Hs.22146 1654764;1666347;1681350;1681588;1697824;1703186;1721285;1723773;1734910;1750311;1756045;1762745;1779964;1796706;2130319;2157078;5022200;5037552 D2S1607E;D2S1683E;D2S1971;D8S2279;FB17A8;G59639;L18426;RH102437;RH118624;RH16628;RH25379;RH75154;RNF144_795;SGC32235;SHGC-112486;SHGC-142856;SHGC-146534;SHGC-154209 KIAA0161;RNF144;UBCE7IP4 OTTHUMP00000115411;OTTHUMP00000200443;UbcM4-interacting protein 4;probable E3 ubiquitin-protein ligase RNF144A;ubiquitin conjugating enzyme 7 interacting protein 4;ubiquitin-conjugating enzyme 7-interacting protein 4 APPROVED protein-coding ENSG00000151692 20457 11510 REVIEWED 1350770 RNF141 ring finger protein 141 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008] 11 11 11 p15.4 10654741 10684309 - 10489801 10519350 - 10533225 10562774 - 1580863;6480464 15761153;15489334;12804569;12477932;11672448;8889548;50862;19322201;22493164 50862 E9PLX2;E9PNF8;E9PQV2;Q8WVD5 ABBA01061157;AC021914;AF214680;AI356880;AI912940;AK289764;AK309367;AL598903;AL600289;AMYH01003390;BC018104;BC035089;BF970569;BG108453;BQ229248;BT006662;BU679024;BX647862;CB956484;CH471064;NM_016422 AAF30180;AAH18104;AAP35308;BAF82453;EAW68566;NP_057506;Q8WVD5 Hs.44685 1646890;1669408;1673275;1687163;1730315;1736184;1776138;1796704;1852833;2117072;2142062;2167632;5022450;5024761;7184688 A002V33;D10S275;D11S2258E;D11S2260E;D11S2321E;D11S4386;D11S954E;RH36087;RH36905;RH46097;RH91769;RNF141_1785;STS-N34870;STS-N35020 MGC8715;ZFP26;ZNF230 C3HC4-like zinc finger protein;OTTHUMP00000230792;OTTHUMP00000230793;OTTHUMP00000230794;RING finger protein 141;zinc finger protein 230 APPROVED protein-coding ENSG00000110315 21159 11509 REVIEWED 1605715 RNF14 ring finger protein 14 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011] 5 5 q23.3-q31.1 141326621 141348938 + 141346402 141369856 + 6480464 12772188;15572661;10085091;11322894;15831516;17919607;17510080;17110431;17082327;15489334;15231748;14702039;12477932;12163482;11673464;10320776;9853615;12612084;11779876;18029348;19345326;19549727;19690564;15805579;22990118;23105109;15604093;21139048;21890473;21906983;22493164 9604 B7Z229;B7Z3J5;D6R988;D6R996;D6RA38;D6RAS4;D6RBK4;D6RBU3;D6RDK2;D6RDU6;E7EP22;Q6IBV0 AA418072;AB015333;AB022663;ABBA01026392;AC005740;AF060544;AK023698;AK023884;AK057868;AK129515;AK294262;AK295965;AMYH01015662;AW162926;BC126185;BC144061;BE042895;BX647955;CB997918;CD106708;CH471062;CR456702;DB456366;DC358984;DC396586;DC402536;NM_001201365;NM_004290;NM_183398;NM_183399;NM_183400;NM_183401 AAD21842;AAI26186;AAI44062;BAA34792;BAA78677;BAG51217;BAG51234;BAH11715;BAH12231;CAG32983;EAW61894;EAW61895;EAW61896;EAW61897;NP_001188294;NP_004281;NP_899645;NP_899646;NP_899647;NP_899648;Q9UBS8 Hs.483616 1649784;1694504;2169391;2171249;2183160;5015619;5015861;5022651;5037552;5109281;7185938 D10S16;D11S2921;D11S3114;D1S1425;D8S2279;G42992;RH17835;RH65859;SGC31927;WI-17093 ARA54;FLJ26004;HFB30;HRIHFB2038;TRIAD2 E3 ubiquitin-protein ligase RNF14;OTTHUMP00000160065;OTTHUMP00000160066;androgen receptor associated protein 54;androgen receptor-associated protein 54;triad2 protein APPROVED protein-coding ENSG00000013561 10058 05745 605675 REVIEWED 1602832 RNF145 ring finger protein 145 5 5 5 q33.3 154615596 154665655 - 158516997 158567412 - 158584417 158637061 - 6480464 16303743;14702039;12477932;19820697;21890473;21906983;22139419 153830 A8K9Y9;E7EW26;Q8NDT8;Q96MT1 ABBA01044242;AC134043;AK056513;AK075101;AK098802;AK126290;AK292854;AK294323;AK304228;AK304435;AK308394;AK311433;AL697229;AL831829;AMYH01015756;BC042684;BC044767;BX537635;BX640806;CH471062;CK821118;DC418555;NM_001199380;NM_001199381;NM_001199382;NM_001199383;NM_144726 AAH42684;ADZ15598;BAB71200;BAC05416;BAC11401;BAF85543;BAG54304;BAH11735;BAH14139;BAH14185;CAD38542;CAD97802;CAE45888;EAW61579;NP_001186309;NP_001186310;NP_001186311;NP_001186312;NP_653327;Q96MT1 Hs.349306 DKFZp686M11215;FLJ31951;FLJ44310 OTTHUMP00000160819;OTTHUMP00000224218;OTTHUMP00000224219;OTTHUMP00000224220;OTTHUMP00000224221;OTTHUMP00000224222;RING finger protein 145 protein-coding ENSG00000145860 20853 08113 VALIDATED 1318869 RNF144B ring finger protein 144B 6 6 6 p22.3 19625477 19706989 + 18495573 18576829 + 18387581 18469105 + 6480464 18821565;19690564;20300062;20379614;12853982;16427630;15489334;14702039;14574404;12477932;17207965;20615966;19549727;19322201;22493164;23472165;23105109 255488 B4DZI2;Q7Z419 AB076367;ABBA01022236;AJ420555;AK096832;AK302935;AL138725;AL832329;AMYH01016124;BC063311;CH471087;NM_182757 AAH63311;ACE86800;ACE87487;ADQ32523;BAC02434;BAG53370;BAG64094;CAD38622;EAW55406;EAW55407;EAW55408;EAW55409;EAW55410;NP_877434;Q7Z419 Hs.148741 1849961;2122583;2160276;2168298;2168300;2183575;5093372 A003N40;A005N35;A009N14;G20359;G32680;RH12676;STS-R00513 IBRDC2;KIAA0161;MGC71786;PIR2;bA528A10.3;p53RFP E3 ubiquitin-protein ligase RNF144B;IBR domain containing 2;IBR domain-containing protein 2;OTTHUMP00000016079;p53-inducible RING finger protein protein-coding ENSG00000137393 21578 17126 VALIDATED 1319576 RNF151 ring finger protein 151 16 16 16 p13.3 2229054 2231155 + 1956876 1958977 + 2016875 2018976 + 737633;6480464 12477932 15489334;21832049;22992278 146310 H3BNJ8;Q2KHN1 ABBA01030285;AC005363;AMYH01007046;BC029501;BC113014;HC007260;NM_174903 AAH29501;AAI13015;CBH19435;NP_777563;Q2KHN1 Hs.99354 1678435 RH92440 MGC129921 RING finger protein 151 protein-coding ENSG00000179580 23235 PROVISIONAL 6767072 RNF157-AS1 RNF157 antisense RNA 1 17 74136637 74150729 + 14702039 100507218 ABBA01028754;AC018665;AI146336;AK093500;AMYH01008639;NR_040017 Hs.654866 1698408;1850035;2167090;2168011 RH102746;RH18286;RH46108;SHGC-53715 APPROVED miscrna ENSG00000267128 44127 VALIDATED 1315124 RNF146 ring finger protein 146 6 6 6 q22.1-q22.33 128330302 128351791 + 127629713 127651202 + 127587827 127609707 + 1580863;6480464 18326623;16381901;15813938;15489336;15489334;14702039;14574404;12477932;11230166;11076863;21478859;16169070;19549727;19690564;15761153;19517271;15146197;16344560;21799911;22274711;21825151;22267412;22504418 81847 Q9NTX7 ABBA01025935;AI929027;AJ315122;AJ420549;AK027436;AK027558;AK027776;AL109939;AL136829;AMYH01016654;BC008235;BG708628;BI669435;BI771613;CH471051;CN388414;CR533514;DA043259;DA145911;DA639989;DA707096;DA826982;DB267873;NM_001242844;NM_001242845;NM_001242846;NM_001242849;NM_001242850;NM_001242851;NM_001242852;NM_030963;NR_045102;NR_045103 AAH08235;BAB55108;BAB55196;BAB55359;CAB66763;CAC85986;CAG38545;CAL37596;CAL38663;EAW48109;EAW48110;EAW48111;EAW48112;EAW48113;NP_001229773;NP_001229774;NP_001229775;NP_001229778;NP_001229779;NP_001229780;NP_001229781;NP_112225;Q9NTX7 Hs.267120 1643963;1684930;2134003;2164045 A003A13;RH1539;RH67929;SHGC-36270 DKFZp434O1427;RP3-351K20.1;dJ351K20.1 2610509H23Rik;E3 ubiquitin-protein ligase RNF146;OTTHUMP00000017162;OTTHUMP00000017163;RING finger protein 146;dactylidin;iduna protein-coding ENSG00000118518 21336 612137 VALIDATED 1348165 RNF148 ring finger protein 148 7 7 7 q31.33 117146021 117147322 - 122128956 122130257 - 122341720 122343021 - 1580863;6480464 15489334;14702039;12690205;12477932;8744354 378925 A4D0X4;C9JVJ0;Q8N7C7 AACC02000001;ABBA01057744;AC004594;AC006009;AC006463;AC015983;AC091438;AK058116;AK098654;AMYH01017899;BC029264;CH236947;CH471070;NG_016215;NM_198085 AAH29264;BAC05367;EAL24340;EAW83578;EAW83579;NP_932351;Q8N7C7 Hs.675191 2132732 D7S731 MGC35222 OTTHUMP00000211456;RING finger protein 148;goliath-related E3 ubiquitin ligase 3-like protein-coding ENSG00000235631 22411 11512 VALIDATED 1318240 RNF149 ring finger protein 149 2 2 2 q11.2 96096053 96129169 - 101258985 101291584 - 101892063 101925178 - 737633;1580863;6480464 12477932 18029348;16381901;15815621;15489336;15489334;14702039;11076863;16344560;20686608;22628551;21987572;19322201;21139048;21890473;21906983 284996 F8WCD0;Q8NC42 ABBA01073912;AC013722;AC073643;AK074985;AK075141;AK129799;AMYH01010814;AY450390;BC019355;BC032328;BC045743;CH471127;CQ782963;DA383672;NM_173647 AAH19355;AAH32328;AAH45743;AAR21083;AAY14775;AAY15089;BAC11334;BAC11430;CAF86191;CAL37444;EAX01817;EAX01818;EAX01819;EAX01820;NP_775918;Q8NC42 Hs.142074 1643708;1655592;1687780;1725751;2114246;2119423;5015619 1152;A008J47;D11S3114;G62124;RH48976;STS-AA011533;WI-15454 DNAPTP2;FLJ90504 DNA polymerase-transactivated protein 2;E3 ubiquitin-protein ligase RNF149;OTTHUMP00000161272;OTTHUMP00000202985 protein-coding ENSG00000163162 23137 11513 VALIDATED 1348356 RNF157 ring finger protein 157 17 17 17 q25.1 70732442 70830317 - 71651451 71747985 - 74138534 74236390 - 1580863;6480464 14702039;12477932;11572484;19913121;20628086;20800603;20379614;19690564 114804 K7EKB4;K7ENU4;K7ER42;Q96PX1 AA932192;AB067504;ABBA01028754;AC015801;AC018665;AK055949;AK091467;AMYH01008639;BC004231;BC042501;BI857136;BM474134;CH471099;CX872674;NM_052916 AAH04231;AAI66675;BAB67810;BAB71053;BAC03669;EAW89378;EAW89379;EAW89380;EAW89381;EAW89382;NP_443148;Q96PX1 Hs.500643 1698408;1776635;1850035;2117790;2167090;2168011;5015619;5022200;5037552 D11S3114;D8S2279;G18009;L18426;RH102746;RH18286;RH46108;RH71390;SHGC-53715 OTTHUMP00000163467;RING finger protein 157 protein-coding ENSG00000141576 29402 15259 VALIDATED 1322589 RNF150 ring finger protein 150 4 4 4 q31.21 139117485 139385356 - 142006175 142274066 - 141786725 142054616 - 6480464 15815621;15489334;14702039;12477932;10574462;19690564;20379614;19322201;23144326 57484 D6RIE5;Q9ULK6 AB033040;ABBA01069985;ABBA01069986;AC093905;AC096733;AC097475;AK130520;AMYH01014573;BC101992;CH471056;NM_020724 AAI01993;BAA86528;BAC85369;EAX05090;NP_065775;Q9ULK6 Hs.659104 1335675;1342129;1651539;1658243;1670652;1705202;1714349;1715955;1754913;1785116;2116442;2116444;2124501;2150746;2152318;2170707;7186003;7186335;7187090 D4S1297;D4S1565;D4S192;D4S2812;D4S3314;G16704;G34522;RH119954;RH122720;RH41779;SHGC-141842;SHGC-155320;SHGC-23687;SHGC-50203;SHGC-80055;STS-N22353 MGC125502 OTTHUMP00000220139;OTTHUMP00000220140;OTTHUMP00000220141;OTTHUMP00000220142;OTTHUMP00000220143;RING finger protein 150 protein-coding ENSG00000170153 23138 15258 VALIDATED 1313171 RNF152 ring finger protein 152 18 18 18 q21.33 56201350 56279446 - 57633284 57711284 - 59482304 59560304 - 1580863;6480464 19240061;15489334;14702039;12477932;19690564;21203937 220441 K7EMG3;Q8N8N0 ABBA01056188;AC105094;AC105183;AK096495;AK122758;AMYH01009046;BC094004;BC111956;CH471096;NM_173557 AAH94004;AAI11957;BAC04805;BAG53711;EAW63114;EAW63115;NP_775828;Q8N8N0 Hs.667457 1754615;2128063;2131977;2171689;5093842;5493317 A009X36;G32957;RH16283;SHGC-132954;SHGC-57965;UniSTS:485685 FLJ39176;MGC138161 E3 ubiquitin-protein ligase RNF152;OTTHUMP00000163663;RING finger protein 152 protein-coding 26811 11514 VALIDATED 1351592 RNF166 ring finger protein 166 16 16 16 q24.3 73832574 73842523 - 87290410 87300301 - 88762903 88772829 - 737633;1580863;6480464 12477932 15489334;14702039;16344560;19549727;19690564;21139048;21890473;22493164 115992 H3BPZ9;H3BQ58;H3BTX7;Q96A37 ABBA01015843;AC138028;AI800509;AK026860;AK057106;AK057201;AK290920;AMYH01007912;BC013948;BC017226;BI911983;CH471184;DA376321;NM_001171815;NM_001171816;NM_178841 AAH13948;AAH17226;ADR82770;BAB71380;BAF83609;BAG51865;EAW66781;EAW66782;EAW66783;EAW66784;EAW66785;EAW66786;NP_001165286;NP_001165287;NP_849163;Q96A37 Hs.513804 1737829 D11S3442 MGC14381;MGC2647 OTTHUMP00000175194;RING finger protein 166 protein-coding ENSG00000158717 28856 15260 VALIDATED 1602283 RNF169 ring finger protein 169 11 11 11 q13.4 71766783 71860010 + 74137561 74231106 + 74459913 74553458 + 6480464 17081983;16964243;15302935;12056414;8889548;16751776;21987572;21252943;19471022;21693764;21890473;22742833;22492721;22505724;22733822 254225 H0YEQ1;Q8NCN4 AB082522;ABBA01017477;ABBA01017478;ABBA01017479;ABBA01017480;AMYH01003813;AP000560;AP001324;BU735906;BX640750;DQ580376;DQ600280;NM_001098638 AAI69205;BAC02700;CAE45858;NP_001092108;Q8NCN4 Hs.370145;Hs.744081 1644329;1649388;1650675;1656321;1775687;1848059;1902214;2111184;2167804;2180912;2181426;2184172;2184174 D11S1380E;D11S2255E;D11S2458;D11S3966;REN21910;RH17472;RH18485;RH35834;RH45943;SGC34365;SGC38235;STS-R11335;WI-17967 KIAA1991 E3 ubiquitin-protein ligase RNF169;OTTHUMP00000230122;RING finger protein 169 protein-coding ENSG00000166439 26961 VALIDATED 1348849 RNF167 ring finger protein 167 RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008] 17 17 17 p13.2 4858441 4863328 + 4784375 4789262 + 4843630 4848517 + 737633;1580863;6480464 12477932 17353931;16314844;15498874;15489334;14702039;19549727;19690564;23129617;21987572;21139048;21890473;21906983;22505724;23353890 26001 I3L0L6;I3L0V7;I3L1K4;I3L2D4;I3L2Y3;I3L462;K7EN24;Q9H6Y7 ABBA01054784;AC004771;AC109333;AK025329;AL050060;AL079315;AL834284;AMYH01008043;AY203930;AY960626;BC010139;BC013222;CH471108;CR457340;NM_015528 AAH10139;AAP34453;BAB15113;CAB43253;CAB45281;CAD38958;CAG33621;EAW90385;EAW90386;EAW90387;EAW90388;NP_056343;Q9H6Y7 Hs.7158 1681566;2109763;2191081 MARC_14421-14422:1010075686:1;RH12586;RNF167_9446 5730408C10Rik;DKFZp566H073;LP2254;RING105 E3 ubiquitin-protein ligase RNF167;OTTHUMP00000125245 APPROVED protein-coding ENSG00000108523 24544 15261 610431 PROVISIONAL 1347950 RNF168 ring finger protein 168, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011] 3 3 3 q29 194777591 194812751 - 197683025 197714979 - 196195654 196230639 - 737633;6480464;7240710 12477932 19203578;19203579;16499958;15489334;15231748;14702039;22373579;19690564;20016603;21041483;19500350;20075863;20080757;20081839;22939629;21412056;20023648;21664912;21698222;20725033;21784059;21857671;21252943;18781797;22508508;21139048;21552324;21890473;21906983;22266820;22492721;22742833;20682791;22589545;23055523;23255131;23264744;21963094;22884692;23000965;22980979;22505724;22713238 165918 F8WD60;Q8IYW5 ABBA01033741;AC092933;AC117490;AK054732;AK093113;AK097068;AMYH01013794;BC017442;BC029433;BC033791;BC047483;CH471191;NG_023425;NM_152617 AAH33791;BAB70801;BAC04060;EAW53649;EAW53650;EAW53651;NP_689830;Q8IYW5 Hs.250648 1697012;5017433 RH101981;STS-T76997 FLJ35794;FLJ39749;hRNF168 E3 ubiquitin-protein ligase RNF168;OTTHUMP00000208312 APPROVED protein-coding ENSG00000163961 26661 08190 611943;612688 REVIEWED 1343595 RNF165 ring finger protein 165 Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 40721612 40848199 + 42168185 42294781 + 43914187 44040783 + 6480464 15722956;14702039;12477932;8889548;20379614;19690564;16344560 494470 K7EIS4;K7ELT0;K7EPZ9;K7EQ96;Q6ZSG1 ABBA01022319;ABBA01022320;AC015959;AC018931;AK055997;AK074561;AK091537;AK096648;AK122819;AK123883;AK127467;AMYH01008974;AW160725;BC012190;BK005135;BM680948;CH471088;DA077941;NM_001256758;NM_152470;NR_046357 BAC86992;BAG53743;DAA05330;EAX01474;EAX01475;NP_001243687;NP_689683;Q6ZSG1 Hs.501114 1341633;1724953;1734556;7185363 D18S72;D18S914E;RH119246 ARKL2;FLJ34218 RING finger protein 165 APPROVED protein-coding ENSG00000141622 31696 VALIDATED 1348737 RNF175 ring finger protein 175 4 4 4 q31.3 151955799 152005874 - 154850762 154900837 - 154631312 154681387 - 737633;1580863;6480464 12477932 14702039;15489334;19913121;20628086;21048031;19773279;17207965 285533 D6RAJ1;D6RB06;D6RB46;D6RID2;Q8N4F7;Q8NB61 ABBA01070142;ABBA01070143;ABBA01070144;AC020703;AC106865;AK091509;AMYH01014629;BC034385;CH471056;NG_016386;NM_173662 AAH34385;ADQ32349;BAC03680;EAX04950;EAX04951;NP_775933;Q8N4F7 Hs.388364 1671099;1743335;2120405;2124103;2124105;2124107;2136511;2145150;2188345;2188347 G66209;G66211;GDB:314973;SHGC-18913;SHGC-24771;SHGC-50326;SHGC-59635;SHGC-67265;SHGC-67621;WI-22079 FLJ34190 OTTHUMP00000220367;RING finger protein 175 protein-coding ENSG00000145428 27735 15262 VALIDATED 1352237 RNF170 ring finger protein 170 This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] 8 8 8 p11.21 41652777 41700691 - 42829548 42870939 - 42704780 42751866 - 737633;1580863;6480464;7240710 12477932 16344560;15489334;14702039;11230166;19690564;21115467;8125298;21610068;21890473;23000965 81790 E9PNG8;E9PP55;Q8NG30 AA973979;ABBA01021173;ABBA01021174;ABBA01021175;AC009634;AC087533;AF209504;AK027748;AK090864;AK095625;AK225086;AK225568;AL136620;AMYH01018689;AMYH01018690;BC013422;BC032393;BC039461;BC044566;BC058289;BG910500;CH471080;DA751961;NG_032868;NM_001160223;NM_001160224;NM_001160225;NM_030954;NR_027668;NR_027669 AAH13422;AAH32393;AAH39461;AAH44566;AAM92891;ACE86876;ACE87564;BAB55340;BAC03534;CAB66555;EAW63201;EAW63202;EAW63203;EAW63204;NP_001153695;NP_001153696;NP_001153697;NP_112216;Q96K19 Hs.491626 1335043;1655072;1739171;2111338;2186079;5022651;5037552 D11S2921;D8S1340E;D8S1555;D8S1791;D8S2120;D8S2279;SHGC-5737 DKFZp564A022;FLJ38306;SNAX1 E3 ubiquitin-protein ligase RNF170;OTTHUMP00000229194;OTTHUMP00000229195;OTTHUMP00000229196;OTTHUMP00000229197;OTTHUMP00000229198;RING finger protein 170;putative LAG1-interacting protein APPROVED protein-coding ENSG00000120925 25358 13165 608984;614649 REVIEWED 1321415 RNF17 ring finger protein 17 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010] 13 13 13 q12.12 6401565 6517327 + 24236301 24352059 + 25338301 25454059 + 1580863;6480464 14702039;21515969;12477932;11279525;10961928;19690564 56163 B7Z7S1;Q5T2J8;Q5T2K0;Q5T6R1;Q9BXT8 ABBA01007894;ABBA01007895;ABBA01007896;ABBA01007897;AF285602;AF285603;AK001907;AK302405;AK302435;AL354798;AL391560;AMYH01004976;AMYH01004977;AMYH01004978;BC037275;BC064847;BC146822;CD358307;CH471075;DB517763;HC007262;HC044683;NM_001184993;NM_031277 AAH64847;AAI66669;AAK31981;AAK31982;BAA91972;BAH13698;BAH13707;CBH19436;CBH30671;EAX08347;EAX08348;NP_001171922;NP_112567;Q9BXT8 Hs.97464 1660515;1664982;1681410;1725103;5020625 D13S1650;G65799;RH118849;RH98638;SHGC-7158 FLJ11045;Mmip-2;SPATA23;TDRD4 OTTHUMP00000018141;RING finger protein 17;spermatogenesis associated 23;tudor domain containing 4;tudor domain-containing protein 4 APPROVED protein-coding ENSG00000132972 10060 05779;15482 605793 REVIEWED 1351673 RNF182 ring finger protein 182 6 6 6 p23 15164452 15220041 + 14033182 14088215 + 13924677 13980240 + 737633;1580863;6480464 12477932 15489334;14702039;18029348;16344560;18298843;19690564;19322201;23349640 221687 C9IZ30;C9JAJ3;C9JAK6;C9JVS8;Q8N6D2 ABBA01022137;ABBA01022138;AK090576;AK098091;AK315528;AL138718;AMYH01016097;AMYH01016098;AW731636;BC030666;BC050030;CH471087;DA123125;DA803766;DB094450;DB176198;NM_001165032;NM_001165033;NM_001165034;NM_152737 AAH30666;AAH50030;ABM83364;ABM83370;ABM86574;ABM86575;BAC03481;BAG37909;EAW55349;EAW55350;NP_001158504;NP_001158505;NP_001158506;NP_689950;Q8N6D2 Hs.111164 1340381;1684333;1750617 D6S2434;RH92558;SHGC-111909 FLJ40772;MGC33993 E3 ubiquitin-protein ligase RNF182;OTTHUMP00000215754;OTTHUMP00000215755;OTTHUMP00000215756;OTTHUMP00000215757;OTTHUMP00000215758;RING finger protein 182 protein-coding ENSG00000180537 28522 15264 VALIDATED 1602715 RNF181 ring finger protein 181 RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008] 2 2 2 p11.2 85651121 85653115 + 85676348 85678342 + 85822837 85824831 + 6480464 18331836;12477932;11042152;8125298;17207965;19690564;16712791;15075326;19426595;21391225;21743467;21139048;22493164 51255 C9J1C6;C9J391;F8WBU5;H7C426;Q9P0P0 ABBA01075761;AC016753;AF151072;AK222700;AMYH01010496;BC002803;CB131242;CH471053;CR457165;NM_016494 AAF36158;AAH02803;AAY24343;ADQ31794;BAD96420;CAG33446;EAW99504;EAW99505;NP_057578;Q9P0P0 Hs.356187 HSPC238 E3 ubiquitin-protein ligase RNF181;OTTHUMP00000160685;OTTHUMP00000209531;OTTHUMP00000209532;hypothetical protein loc51255 APPROVED protein-coding 28037 14236 612490 VALIDATED 5683646 RNF185-AS1 RNF185 antisense RNA 1 q12.2 12477932 100852405 AC002073;BC069286 Hs.517553 APPROVED miscrna 41161 1603182 RNF183 ring finger protein 183 9 9 9 q32 86706988 86708935 - 115099194 115101141 - 116059373 116061320 - 6480464 16189514;15489334;14702039;12477932;21832049 138065 Q96D59 ABBA01042689;AK055759;AK091940;AL449305;AMYH01021669;BC013036;BE463594;CH471090;NM_145051 AAH13036;ABM83500;ABM86716;EAW87364;EAW87365;EAW87366;NP_659488;Q96D59 Hs.729641 FLJ31197;MGC4734 OTTHUMP00000215895;OTTHUMP00000215896;OTTHUMP00000215897;RING finger protein 183 protein-coding ENSG00000165188 28721 10082 VALIDATED 3322041 RNF19BPX ring finger protein 19B pseudogene, X-linked X X 89942008 89942531 - 89463867 89465427 - 100419788 AL121873;AMYH01022680;NG_022619 RNF19BX pseudo 38484 INFERRED 3322042 RNF19BPY ring finger protein 19B pseudogene, Y-linked Y 3646038 3647587 - 100419722 ABBA01069810;AC012078;NG_021906 pseudo 38398 INFERRED 1347772 RNF180 ring finger protein 180 5 5 5 q12.3 60458571 60665603 + 63497427 63549369 + 63461671 63668696 + 6480464 22563461;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;18363970;20379614;21717426 285671 D6RE88;Q86T96 ABBA01048341;ABBA01048342;ABBA01048343;AC016623;AC092360;AK090756;AL832580;AMYH01015126;AMYH01015127;BC101277;BC101278;BC101279;BC101397;CH471137;DA183707;DA809479;NM_001113561;NM_178532 AAI01278;AAI01279;AAI01280;AAI01398;BAC03514;CAD89939;CAL38421;EAW51373;EAW51374;EAW51375;NP_001107033;NP_848627;Q86T96 Hs.657843 1337887;1341433;1665659;1683291;1849658;2172377 D5S1359;D5S668;RH92875;SHGC-30782;SHGC-34946;WI-14912 MGC120326;MGC120328 E3 ubiquitin-protein ligase RNF180;OTTHUMP00000221817;OTTHUMP00000221818;OTTHUMP00000221819;RING finger protein 180 protein-coding ENSG00000164197 27752 15263 VALIDATED 1601756 RNF186 ring finger protein 186 1 1 1 p36.13 18467352 18468601 - 20013109 20014358 - 20140522 20141771 - 6480464 16710414;15489334;14702039;12477932;8125298;19690564;19122664;20228799;23511034;22797925 54546 Q9NXI6 ABBA01059769;AK000232;AK222991;AL391883;AMYH01000317;BC030960;BC051880;CH471134;CR457228;NM_019062 AAH30960;AAH51880;BAA91024;BAD96711;CAG33509;EAW94904;NP_061935;Q9NXI6 Hs.124835 FLJ20225;RP11-91K11.1 OTTHUMP00000002793;RING finger protein 186 protein-coding ENSG00000178828 25978 07885 PROVISIONAL 1606704 RNF187 ring finger protein 187 1 1 1 q42.13 201864899 201873720 + 226740900 226749293 + 228675068 228683889 + 6480464 16710414;15489334;12477932;20852630;21963094;23624934;21145461;18781797;21906983 149603 Q5TA31;Q9BVY4 ABBA01005838;AI269201;AL139288;AMYH01001796;BC000821;BC008022;BC012758;BC015435;BC039872;BC053571;BC064481;BC080645;BI551408;NM_001010858 AAH00821;AAH12758;AAH64481;NP_001010858;Q5TA31 Hs.356377;Hs.679030 1672040;1765541;1772520 SHGC-149012;SHGC-76455;WI-15884 RACO-1;RACO1 E3 ubiquitin-protein ligase RNF187;OTTHUMP00000037944;RING domain AP1 coactivator 1;protein RNF187 protein-coding 27146 613754 VALIDATED 1313515 RNF19B ring finger protein 19B IBRDC3 is a cytolysis-associated transmembrane protein expressed in natural killer (NK) cells and T lymphocytes following cytokine stimulation (Kozlowski et al., 1999 [PubMed 10438909]).[supplied by OMIM, Mar 2008] 1 1 1 p35.1 31670681 31698914 - 33174634 33202301 - 33402050 33430286 - 737633;6480464 12477932 15489334;14702039;10438909;8889549;16709802;16196087;21139048;21382349;21890473;22939624 127544 E9PAW6;G3XA82;Q6ZMZ0 AA194237;ABBA01023388;ABBA01023389;AK074486;AK131439;AL031602;AMYH01000475;BC020595;BC062374;BC113560;BC143687;CH471059;CQ782409;NM_001127361;NM_153341 AAH20595;AAH62374;AAI13561;AAI43688;BAC11017;BAD18585;CAF85699;EAX07489;EAX07490;EAX07491;NP_001120833;NP_699172;Q6ZMZ0 Hs.591504 1682273;1695990;1705430;1718749;1850633;1852093;2128341;5491531 D1S1551;MARC_17137-17138:1021047780:1;RH123063;RH98813;SHGC-74554;SHGC-74556;SHGC-82738;SHGC-83795 FLJ90005;IBRDC3;NKLAM E3 ubiquitin-protein ligase RNF19B;IBR domain containing 3;IBR domain-containing protein 3;OTTHUMP00000004133;OTTHUMP00000035903;OTTHUMP00000234307;natural killer lytic-associated molecule APPROVED protein-coding ENSG00000116514 26886 13725 610872 VALIDATED 1602840 RNF185 ring finger protein 185 22 22 22 q12.2 15356214 15403106 + 29886179 29933000 + 31556138 31603005 + 6480464 16344560;15489334;15461802;14702039;12477932;19549727;21832049;17558393;21931693;21139048;21890473;21906983;21963094;22053931;23000965;23105109;22493164;22505724 91445 B4DMD6;Q96GF1 AA258379;ABBA01055322;ABBA01055323;ABBA01055324;AC002073;AC005005;AK027035;AK075154;AK095947;AK291236;AK297414;AMYH01012713;AMYH01012714;BC009504;BC012817;BC017302;BC026040;BC033166;BC035684;BX648019;CH471095;CQ834442;CQ834548;CR456349;DA498404;DB134817;DQ296559;DQ296560;DQ296561;DQ296562;DQ296563;DQ296564;DQ296565;NM_001135825;NM_152267;NR_024209;NR_024210;NR_024211;NR_024212 AAH09504;AAH12817;AAH26040;AAH33166;AAH35684;ABB97506;ABB97507;ABB97508;ABB97509;ABB97510;ABB97511;ABB97512;BAC04659;BAF83925;BAG59848;CAG30235;CAH05436;CAH05489;CAK54490;CAK54789;EAW59943;EAW59944;EAW59945;EAW59946;EAW59947;EAW59948;EAW59949;EAW59950;EAW59951;EAW59952;EAW59953;NP_001129297;NP_689480;Q96GF1 Hs.517553 1646702;1679241;1784540;1850879;2148080;2220366 AL022542;D4S3181;SHGC-171991;SHGC-67789;SHGC-8629;UniSTS:480808 FLJ38628 BSK65-MONO1;BSK65-MONO2;BSK65-PANC1;BSK65-PANC2;BSK65-TEST1;BSK65-TEST2;BSK65-TEST3;E3 ubiquitin-protein ligase RNF185;OTTHUMP00000199492;OTTHUMP00000199493;OTTHUMP00000227602;RING finger protein 185 protein-coding ENSG00000138942 26783 08790 VALIDATED 1317214 RNF19A ring finger protein 19A, E3 ubiquitin protein ligase This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 8 8 q22 101338464 101391503 - 101269288 101322379 - 6480464 10976766;11237715;18721867;17157513;16513638;15489334;15456787;15030390;14702039;14611647;12875980;12750386;12477932;12145308;21041692;17666395;16344560;21900206;21139048;21890473;22493721;19517565 25897 A3KCU8;E5RJH6;E7EQ63;E7EQV8;E7ETB2;Q9NV58 AB029316;AB271913;ABBA01037567;AC025647;AJ242975;AK023455;AK027070;AK057699;AL110253;AL122096;AL708565;AMYH01018926;AP001574;BC043648;BC062676;BC093938;BC093940;BC105300;BQ003778;CH471060;DA502897;DB037264;DB061830;NM_001280539;NM_015435;NM_183419 AAH43648;AAH93938;AAH93940;AAI05301;BAB14581;BAB15647;BAB39353;BAF48116;CAB45132;CAB53700;CAB59264;EAW91807;NP_001267468;NP_056250;NP_904355;Q9NV58 Hs.292882 1682107;1796708;2111920;2128578;2137717;2177679;5017648 D3S4097;D8S1650;RH18438;RH92127;RNF19;RNF19_801;SHGC-37498 DKFZp566B1346;DORFIN;RNF19 E3 ubiquitin-protein ligase RNF19A;OTTHUMP00000227271;OTTHUMP00000227364;RING finger protein 19 isoform;double ring-finger protein;p38 protein;protein p38 interacting with transcription factor Sp1;ring-IBR-ring domain containing protein Dorfin APPROVED protein-coding ENSG00000034677 13432 06176 607119 REVIEWED 1313548 RNF2 ring finger protein 2 Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008] 1 1 q25.3 183281174 183338363 + 185014551 185071740 + 737633;1580863;6480464 12477932 17088979;18616292;17936708;17873902;17379327;17157253;17081983;16714294;16710414;16359901;15960975;15931389;15773819;15761153;15489334;15386022;15009096;14702039;12589020;12183370;12167701;11865070;11513855;10369680;16169070;15563468;22844243;22902369;22910419;19549727;19690564;18029348;19636380;20696397;16710298;16943429;17070805;17428788;17468742;18629613;19337376;19412891;19584075;20237291;20351251;16751658;18339675;23105109;23207902;23383273;20601937;20800574;20811636;21179169;21772249;20854876;22907436;23022380;23318437;22031506;22042911;21347701;21139048;21530438;21596310;21890473;21676867;22099309;22427948;22325352;11439343;12167161;22493164;16624538;21282530;23000965;23251661;23319651;23500468;18051367;22797925 6045 B3KRH1;Q99496 ABBA01027724;ABBA01027725;ABBA01027726;AF075026;AF141327;AI242656;AK091574;AK314793;AL109865;AMYH01001561;BC012583;BF183837;BX338357;CH471067;NM_007212;Y10571 AAD29717;AAH12583;ABM83858;ABM87180;BAG37324;BAG52383;CAA71596;EAW91187;EAW91188;NP_009143;Q99496 Hs.591490 1681263;1734202;1798104;1856831;2145824;2148120;2150906 D1S1739E;D1S2184;RH99320;RNF2_1843;SHGC-34344;SHGC-75971;SHGC-76058 BAP-1;BAP1;DING;HIPI3;RING1B;RING2 E3 ubiquitin-protein ligase RING2;HIP2-interacting protein 3;OTTHUMP00000033405;OTTHUMP00000033406;OTTHUMP00000033407;RING finger protein 1B;RING finger protein BAP-1;huntingtin-interacting protein 2-interacting protein 3;protein DinG APPROVED protein-coding ENSG00000121481 10061 07028 608985 REVIEWED 1606686 RNF215 ring finger protein 215 22 22 22 q12.2 14574485 14582986 - 29104801 29113302 - 30774801 30783302 - 6480464 9847074 200312 C9JDL7;H0Y2L4;H7C0R1;Q9Y6U7 ABBA01055293;ABBA01055294;ABBA01055295;AC004997;AK293904;AMYH01012705;AMYH01012706;AMYH01012707;BM476400;BM806918;BX494669;CH471095;NM_001017981 AAD43187;AAI48384;AAI53029;BAG57289;EAW59883;EAW59884;NP_001017981;Q9Y6U7 Hs.592194 1784536 SHGC-171917 OTTHUMP00000198947;OTTHUMP00000198948;RING finger protein 215 protein-coding ENSG00000099999 33434 18747 VALIDATED 1351712 RNF213 ring finger protein 213 This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 17 17 17 q25.3 74864699 74998227 + 75928321 75984681 + 78234660 78372586 + 737633;6480464;7240710 12477932 16625196;15489334;14702039;10997877;10737800;11181995;12112524;17974005;18187866;18318008;18669648;19608861;21048783;19454010;23010677;21799892;10754001;21139048;21906983;21080342;21647175;16196087;22377813;23118302;21282530;21988832;23110205;22190034;22505724 57674 H3BLU6;I3L3H9;J3QTP8;Q9HCF4 AB046774;AB046838;AB537889;ABBA01015400;ABBA01015401;ABBA01015402;ABBA01015403;ABBA01015404;ABBA01015405;AC123764;AC124319;AF397204;AF397205;AK023113;AK023871;AK025676;AK025914;AK026038;AK074030;AK127358;AK127914;AL161961;AL832920;AL833201;AMYH01008694;AMYH01008695;AMYH01008696;BC032220;BC035987;BC036891;BC040341;BC110403;BI008697;BX097483;BX640932;BX647506;BX647946;CH471099;DW443658;NG_031980;NM_001256071;NM_020954 AAH32220;AAH36891;AAH40341;AAI72594;AAN63520;AAN63521;BAB13380;BAB13444;BAB14411;BAB14708;BAB15212;BAB15280;BAB15330;BAB84856;BAC87188;BAK53191;CAE45967;CAH10615;CAH56189;CAH56308;EAW89593;EAW89594;EAW89595;EAW89596;EAW89597;EAW89598;EAW89599;EAW89600;NP_001243000;NP_066005;Q63HN8 Hs.195642;Hs.740662;Hs.745415 1338539;1647058;1657311;1666867;1734532;1783536;1788970;2133398;2186091;5015861;5016268;5016478;5021872;5022578;5022588;5022651;5037552;7184453;7185938;7186445 D10S16;D11S2921;D17S1463E;D17S785;D17S836;D17S939;D1S1423;D5S1597E;D8S2279;G01830;G65561;GDB:434012;RH15895;RH35986;RH46154;SHGC-153553;SHGC-33067;SHGC-53147;sY3084 ALO17;C17orf27;DKFZp762N1115;FLJ13051;KIAA1554;KIAA1618;MGC46622;MGC9929;MYMY2;NET57;mysterin ALK lymphoma oligomerization partner on chromosome 17;E3 ubiquitin-protein ligase RNF213;OTTHUMP00000220197;RING finger protein 213;chromosome 17 open reading frame 27;mysterin;protein ALO17 APPROVED protein-coding ENSG00000173821 14539 10716 607151;613768 REVIEWED 6481056 RNF216-IT1 RNF216 intronic transcript 1 (non-protein coding) 7 5702063 5720092 - 100874342 AA825874;ABBA01039475;AC006483;AMYH01017005;NR_046834 Hs.665728 miscrna 41463 PREDICTED 1603720 RNF208 ring finger protein 208 9 9 q34.3 139234528 139235596 - 140114699 140115775 - 6480464 16189514;12477932;11256614;11230166;8889548;22493164 727800 Q9H0X6 ABBA01022749;AF416715;AI880121;AL136540;AMYH01021893;BC016958;BX255925;BX343138;CB241964;DN995061;NM_031297 AAH16958;AAL16809;CAB66475;NP_112587;Q9H0X6 Hs.512767 DKFZp761H1710;MGC88636 OTTHUMP00000162589;RING finger protein 208 protein-coding ENSG00000212864 25420 13182 VALIDATED 1603826 RNF207 ring finger protein 207 1 1 1 p36.31 5380701 5395870 + 6188776 6203946 + 6266189 6281359 + 6480464 19305409;19305408;16344560;14702039;12477932;12107413;8889548 388591 Q6ZRF8 ABBA01035439;AK056658;AK127700;AK128246;AK128450;AK294223;AL031847;AMYH01000210;BC034459;BC119780;BC128237;BQ045220;CD673733;DA190055;DB290694;DB636433;NM_207396 AAI19781;AAI28238;BAB71243;BAC87091;BAC87352;BAG57527;NP_997279;Q6ZRF8 Hs.716549 1657637;1696934;2132325;5015961;5020414;5022322;5022578;5037552;5109281 D11S2560;D15S1477;D1S1423;D1S1425;D8S2279;L17688;RH101937;SHGC-74149;SHGC-74151 C1orf188;FLJ32096;FLJ46380;FLJ46593 OTTHUMP00000001377;RING finger protein 207 protein-coding ENSG00000158286 32947 08119;13536 VALIDATED 1323649 RNF20 ring finger protein 20, E3 ubiquitin protein ligase The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012] 9 9 q22 103335954 103365447 + 104296133 104325626 + 6480464 18299561;16337599;16307923;15635413;15489334;15302935;15164053;14702039;12876294;12535539;12535538;12477932;11145718;11086069;10975868;10954754;18685082;19946338;22558309;21329877;21362548;16713563;17148452;18832071;19037095;19410543;19596235;20738173;21596312;19850743;21827756;21811414;22863883;22939629;21443952;21987572;22155569;22354749;12938929;19471022;21139048;21362549;21890473;21906983;22021426;22231558;16344560;22053931;23000965;23275563;23412334;23444366;23718855 56254 C9J0A5;C9JWJ4;C9JXC9;Q9HA51 ABBA01042872;AF247268;AF265230;AF283791;AF305515;AK000389;AK000697;AK002051;AK022300;AK022532;AK314401;AL353621;AL591377;AL832910;AL834272;AMYH01021580;AY006321;BC016691;BC032618;BC063115;BC110584;BC110585;BC152309;CH471105;DB273543;NM_019592 AAG15824;AAG21410;AAG24713;AAG44865;AAH16691;AAH32618;AAH63115;AAI10585;AAI10586;AAI52310;AAK58539;BAA91134;BAA91326;BAA92057;BAB14005;BAB14081;BAG37025;CAD38947;CAH10630;EAW58955;EAW58956;EAW58957;NP_062538;Q5VTR2 Hs.729085 1764359;1798102;2190873 MARC_10117-10118:1001521849:1;RNF20_803;SHGC-147959 BRE1;BRE1A;FLJ11189;FLJ20382;KIAA2779;MGC129667;MGC129668;hBRE1;nm_rev: NM_019592.5 was updated to version 4 to extend the 5' UTR. No other changes were needed. BRE1 E3 ubiquitin ligase homolog;BRE1-A;E3 ubiquitin-protein ligase BRE1A;OTTHUMP00000215919;homolog of S. cerevisiae BRE1 APPROVED protein-coding ENSG00000155827 10062 07410 607699 REVIEWED 6481174 RNF219-AS1 RNF219 antisense RNA 1 13 78628990 79191460 + 14702039;21116278 100874222 ABBA01021672;ABBA01021673;ABBA01021674;ABBA01021675;ABBA01021676;ABBA01021677;ABBA01021678;ABBA01021679;ABBA01021680;ABBA01021681;AK095779;AL138957;AL161419;AL162852;AL391989;AL445209;AMYH01005226;BX647243;NR_047001 Hs.493062 1659986 SGC30285 POU4F1-AS1 APPROVED miscrna 42700 VALIDATED 1604957 RNF212 ring finger protein 212 This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] 4 4 4 p16.3 1001205 1042016 - 1055269 1097350 - 1065266 1107352 - 6480464 18239089;16344560;15489334;14702039;12477932;19763160;15340062;21890473;19322201;23396135 285498 D6R9L2;D6RA97;Q495C1 ABBA01019355;ABBA01019356;ABBA01019357;AC019103;AC092535;AK096160;AK124578;AK310043;AMYH01013847;AMYH01013848;AMYH01013849;BC036250;BC050356;BC101258;BC101259;BC101260;BC101261;BG701603;BI460105;CH471131;DB159979;NG_027812;NM_001131034;NM_001193318;NM_194439 AAH36250;AAH50356;AAI01259;AAI01260;AAI01261;AAI01262;BAC04714;EAW82610;EAW82611;EAW82612;EAW82613;EAW82614;NP_001124506;NP_001180247;NP_919420;Q495C1 Hs.248290 1338572;1718397;1720869;1846737;2135843;2146997;2149228;5019118;5037552 D4S2716;D4S3038;D4S992;D8S2279;G34198;G59262;RH102035;RH122973;SHGC-51507 FLJ38841;FLJ42587;MGC120227;MGC120228;ZHP3 OTTHUMP00000147525;OTTHUMP00000217464;OTTHUMP00000217466;RING finger protein 212;probable E3 SUMO-protein ligase RNF212 APPROVED protein-coding ENSG00000178222 27729 14158 612041;612042 REVIEWED 2291759 RNF216P1 ring finger protein 216 pseudogene 1 7 7 7 p22.1 4972970 4997152 + 4991149 4995298 + 5013616 5037800 + 12477932;11854271;11181995 441191 Q6NUR6 ABBA01039437;AC092032;AK124529;AK303831;AK308526;AK309798;AK311517;AMYH01016992;AW079602;BC026736;BC068459;BX538059;CH471144;DC357738;NR_015449;NR_023384;NR_023385 BAH14062;EAW87309;EAW87310;EAW87311;EAW87312;EAW87313;EAW87314;EAW87315;EAW87316 Hs.520636 1694684;1770409;5015861;7185938 D10S16;G43528;GDB:1318486 FLJ18559;FLJ98567;FLJ99839;RNF216L;hCG2040556 APPROVED pseudo ENSG00000196204 33610 VALIDATED 5132242 RNF223 ring finger protein 223 1 1 1 p36.33 1574564 1577125 + 997060 1000102 - 1007126 1009687 - 401934 E7ERA6 ABBA01016013;AK296576;AL390719;AMYH01000111;NM_001205252 BAG59196;E7ERA6;NP_001192181 Hs.568137 RING finger protein 223;hypothetical protein LOC401934 protein-coding ENSG00000237330 40020 VALIDATED 1604189 RNF214 ring finger protein 214 11 11 11 q23.3 114261063 114314064 + 116608614 116661614 + 117103404 117156404 + 6480464 15489334;15146197;12477932;22939629;22118674;21890473;21779381;23000965 257160 B4DTD1;E9PN76;E9PRE9;Q8ND24 ABBA01039729;ABBA01039730;ABBA01039731;ABBA01039732;ABBA01039733;ABBA01039734;ABBA01039735;ABBA01039736;AK298923;AK300160;AL834448;AMYH01004062;AP000892;BC031347;BC064581;BC146891;BC146901;CH471065;CN395747;DB457549;NM_001077239;NM_207343 AAI46892;AAI46902;BAG61028;BAG61943;CAD39108;EAW67306;EAW67307;NP_001070707;NP_997226;Q8ND24 Hs.591934 1674127;1736174;1754097;1769026;2115802;2117593;2117595;2127579;2164459;2164461;5093878 A005A12;A005U47;A009Y15;D11S2277E;D11S2294E;D11S4635;G20259;G20524;G32977;RH12629;SHGC-132133 DKFZp547C195 OTTHUMP00000235002;OTTHUMP00000235003;OTTHUMP00000235004;RING finger protein 214 protein-coding ENSG00000167257 25335 16815 VALIDATED 2299989 RNF222 ring finger protein 222 17 17 17 p13.1 8324826 8331947 - 8236842 8237504 - 8294022 8301144 - 6480464 16625196;16344560;8889548 643904 A6NCQ9 ABBA01054917;AC026130;AMYH01008090;CA944854;NM_001146684 A6NCQ9;NP_001140156 Hs.526550 OTTHUMP00000162929;RING finger protein 222;RING finger protein LOC643904 protein-coding ENSG00000189051 34517 VALIDATED 5132816 RNF224 ring finger protein 224 9 9 q34.3 139241972 139243359 + 140122018 140124090 + 643596 P0DH78 ABBA01022750;ABBA01022751;AMYH01021895;AMYH01021896;AW236719;BM921684;BX255925;NG_017008;NM_001190228 NP_001177157;P0DH78 Hs.432442;Hs.730186 RING finger protein 224;hypothetical protein LOC643596 protein-coding ENSG00000233198 41912 VALIDATED 1315678 RNF217 ring finger protein 217 6 6 6 q22.31 126049522 126149701 + 125346213 125446360 + 125304514 125404661 + 1580863;6480464 18978678;15489334;14702039;14574404;12477932;20379614;21139048;20682791 154214 E5RFY6;H0YB95;H0YKH8;H3BM17;H7C5V4;Q5TCA3;Q8TC41 ABBA01025956;ABBA01025957;AK057943;AK093417;AK122811;AL136128;AL355296;AMYH01016644;BC026087;CH471051;NM_152553 AAH26087;BAG53740;EAW48149;EAW48150;EAW48151;EAW48152;EAW48153;EAW48154;NP_689766;Q8TC41 Hs.368639 1339438;1716943;1737831 D11S3444;D6S1702;RH121851 C6orf172;IBRDC1;MGC26996;dJ84N20.1 IBR domain containing 1;IBR domain-containing protein 1;OTTHUMP00000017132;probable E3 ubiquitin-protein ligase RNF217 protein-coding ENSG00000146373 21487 17125 PROVISIONAL 2301485 RNF2P1 ring finger protein 2 pseudogene 1 9 9 9 p24.1 6607035 6607977 - 6658999 6660633 - 6669691 6670633 - 100132467 ABBA01065389;AL162411;AL354707;AMYH01019209;NG_008708 RNF2P APPROVED pseudo 33987 INFERRED 1604006 RNF216 ring finger protein 216 This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008] 7 7 p22.1 5626204 5787818 - 5659672 5821361 - 6480464 15367624;11256614;16968706;16381901;16341674;15489336;15489334;15107846;14702039;12853948;12600646;12477932;11854271;11230166;11076863;10527689;10422847;8076819;16169070;8889548;19913121;20628086;19690434;19893624;18029348;21270397;22990118;21987572;21139048;21693764;21890473;21906983;21963094;15231748;23000965;23656588;19149577;22505724 54476 A8K8N1;C9JIV3;F8W6D1;F8WDI8;Q9NWF9 ABBA01039473;ABBA01039474;ABBA01039475;ABBA01039476;ABBA01039477;AC006483;AC008167;AF228527;AF513717;AF513718;AK000916;AK024787;AK092767;AK123635;AK128551;AK292396;AK297231;AK297416;AK314332;AMYH01017004;AMYH01017005;AY062174;AY177396;AY177397;AY177398;BC000787;BC004947;BC063825;BM793093;BM970811;BM997118;BQ018569;BX537406;CH471144;NG_029374;NM_207111;NM_207116 AAF36723;AAH00787;AAH63825;AAL38043;AAO60361;AAO60362;AAO60363;AAP47174;AAP47175;AAS07532;BAA91422;BAF85085;BAG36978;BAG53927;BAG59714;BAG59849;CAD97648;CAL37508;CAL38564;EAW87347;EAW87348;EAW87349;NP_996994;NP_996999;Q9NWF9 Hs.487458;Hs.689456 1644031;1686064;1770409;1856127;2109995;5015619;5017987;5037552 Clen36;D11S3114;D8S2279;GDB:1318486;RH48964;RH91865;STS-D45621;TRIAD3_9789 CAHH;TRIAD3;U7I1;UBCE7IP1;ZIN E3 ubiquitin-protein ligase RNF216;OTTHUMP00000208114;OTTHUMP00000208116;triad domain-containing protein 3;ubiquitin conjugating enzyme 7 interacting protein 1;ubiquitin-conjugating enzyme 7-interacting protein 1;zinc finger protein inhibiting NF-kappa-B APPROVED protein-coding ENSG00000011275 21698 15550 212840;609948 REVIEWED 1354147 RNF219 ring finger protein 219 13 13 13 q31.1 60086863 60131755 - 78086422 78131315 - 79188421 79233314 - 6480464 16964243;15489334;15057823;14702039;12477932;11230166;8889548;17353931;21145461;20936779;20339536;19322201;20360068;21139048;21693764;21906983 79596 Q5W0B1 ABBA01021681;AK023511;AK098640;AL136651;AL139319;AL445209;AMYH01005226;BC028586;BC136764;BC136765;BI550796;BM674566;CH471093;CR936752;CR936754;CR936764;NM_024546 AAI36765;AAI36766;BAB14594;CAB66586;EAW80586;EAW80587;EAW80588;NP_078822;Q5W0B1 Hs.567576 1653514;1659986;2119492;2151628;2155617 D13S1437;D13S1666;RH78447;SGC30285;STS-H08200 C13orf7;DKFZp686A01276;DKFZp686N15250;DKFZp686O03173;FLJ13449;FLJ25774 OTTHUMP00000018536;RING finger protein 219;chromosome 13 open reading frame 7 protein-coding ENSG00000152193 20308 12619 VALIDATED 1319703 RNF24 ring finger protein 24 The protein encoded by this gene contains similarity to the Drosophila goliath protein and thus may function as a transcription factor. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 20 20 20 p13 3973942 4058065 - 3861713 3944036 - 3912068 3996216 - 1580863;6480464 17850865;15489334;12477932;11780052;11042152;21890473;21987572;22505724 11237 Q9P0N2;Q9Y225 ABBA01053842;ABBA01053843;AF151081;AL031670;AL079313;AL096778;AMYH01011679;AMYH01011680;BC000213;BC039584;BT007406;CD367454;CH471133;CV811405;NM_001134337;NM_001134338;NM_007219 AAF36167;AAH00213;AAH39584;AAP36074;CAB45279;CAB46627;EAX10467;EAX10468;EAX10469;EAX10470;EAX10471;NP_001127809;NP_001127810;NP_009150;Q9Y225 Hs.589884 1335497;1779238;2118347;2120557 D20S889;RH16139;SHGC-152941;Z94486 G1L OTTHUMP00000030150;OTTHUMP00000161029;RING finger protein 24;goliath-like protein (C3HC4 type) APPROVED protein-coding ENSG00000101236 13779 10198 612489 REVIEWED 1349960 RNF35 ring finger protein 35 337951 AY063495 17308 1605659 RNF220 ring finger protein 220 1 1 1 p34.1 43154154 43400285 + 44643547 44889983 + 44870960 45117396 + 6480464 16713569;16710414;15489334;14702039;12477932;11042152;8125298;19615732;20170641;20379614;19913121;20628086;21139048;21890473;21906983;22505724 55182 B4DLZ9;H0Y7B1;Q5TDE7;Q5TDE8;Q5VTB9 ABBA01050918;ABBA01050919;ABBA01050920;ABBA01050921;ABBA01050922;ABBA01050923;ABBA01050924;AF151080;AK001459;AK025744;AK056424;AK124790;AK225180;AK293411;AK296038;AK297228;AL122004;AL359373;AL596225;AMYH01000566;AMYH01000567;BC000279;BC034221;BC062600;BC073835;BC098266;BC098300;BC105790;NM_018150 AAF36166;AAH00279;AAH34221;AAH98266;AAH98300;BAA91704;BAG51705;BAG54095;BAG56918;BAG58804;BAG59711;NP_060620;Q5VTB9 Hs.456557 1340233;1653656;1722361;1753693;1775402;1777892;1781442;1849007;1849548;2136655;2163162;2167349 AL009337;D1S2562;D1S2881;G60250;RH41792;RH64533;SHGC-107598;SHGC-112020;SHGC-74686;SHGC-74690;SHGC-74691;WI-11305 C1orf164;FLJ10597;RP4-678E16.1 E3 ubiquitin-protein ligase RNF220;OTTHUMP00000009170;OTTHUMP00000009530;OTTHUMP00000009532 protein-coding ENSG00000187147 25552 13336 VALIDATED 1314288 RNF26 ring finger protein 26 The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008] 11 11 11 q23 116365908 116368693 + 118710447 118713232 + 119205210 119208024 + 1580863;6480464 11352657;16303743;15489334;14702039;12477932;19913121;20628086;19690564 79102 Q9BY78 AB055622;ABBA01039674;AK075379;AK122642;AL702838;AMYH01004082;AP003396;BC000058;BC007534;BQ953192;BX647424;BX648447;CH471065;CK821090;CS051427;NM_032015 AAH00058;AAH07534;ABM84427;ABM87453;BAB40955;BAC11580;BAG53635;CAI72207;EAW67479;NP_114404;Q9BY78 Hs.524084;Hs.727631;Hs.744159 1776701;2177455 A005D38;Bdaa7g02 MGC2642 OTTHUMP00000232088;RING finger protein 26;ring finger protein with leucine zipper APPROVED protein-coding ENSG00000173456 14646 05842 606130 REVIEWED 1323079 RNF25 ring finger protein 25 The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008] 2 2 2 q35 213296345 213304539 - 219236831 219245025 - 219528587 219536781 - 1580863;6480464 15489334;14702039;12748188;12477932;10500182;8125298;18757723;14517261;19690564;19549727;16196087;20639865;21987572;22118674;21139048;21890473;21906983;17203973;19256485;22493164;22053931 64320 H7C219;Q96BH1 ABBA01023861;AC009974;AK023968;AK222525;AK289501;AMYH01011497;AW613024;BC015612;BC028167;BI831198;CH471063;NM_022453 AAH15612;ADZ15417;BAB14743;BAD96245;BAF82190;EAW70641;EAW70642;EAW70643;EAW70644;EAW70645;EAW70646;NP_071898;Q96BH1 Hs.471403 1677899;1707156;1796710 RH92184;RNF25_1331;SHGC-81348 AO7;FLJ13906 E3 ubiquitin-protein ligase RNF25;OTTHUMP00000164094;OTTHUMP00000206471;ring finger protein AO7 APPROVED protein-coding ENSG00000163481 14662 09737 REVIEWED 1317975 RNF32 ring finger protein 32 The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2011] 7 7 7 q36 150860591 150897015 + 156126162 156162585 + 156433353 156469824 + 1580863;6480464 11890671;11256614;16381901;15489336;15489334;12853948;12477932;11230166;11076863;9847074;16169070;19549727;21988832;21163940;21832049;22493164 140545 C9JXI4;E9PES2;G5E940;Q9H0A6 AA412402;AACC02000068;ABBA01032376;AC005534;AF325690;AF441222;AF441223;AF441224;AF441225;AK307316;AK314067;AL136874;AMYH01018188;BC015416;BC028120;BI460257;BI465216;BT007037;CH236954;CH471149;CR533513;DB445126;NM_001184996;NM_001184997;NM_030936 AAD43189;AAG50281;AAH15416;AAM18664;AAM18665;AAM18666;AAM18667;AAM18668;AAM18669;AAP35686;CAB66808;CAG38544;CAL37640;CAL38072;EAX04551;EAX04552;EAX04553;EAX04554;EAX04555;EAX04556;EAX04557;EAX04558;NP_001171925;NP_001171926;NP_112198;Q9H0A6 Hs.446194 1660697;1685221;1689007;1778899;1787942;2131193;2150375 GDB:1318499;RH93169;RH94347;SHGC-132644;SHGC-36890;SHGC-58113;WI-11426 FKSG33;HSD15;LMBR2 OTTHUMP00000200005;OTTHUMP00000200007;OTTHUMP00000200008;OTTHUMP00000200009;OTTHUMP00000200127;RING finger protein 32 APPROVED protein-coding ENSG00000105982 17118 11517 610241 REVIEWED 1348836 RNF31 ring finger protein 31 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. [provided by RefSeq, Jul 2008] 14 14 14 q11.2 4481127 4494338 + 23686499 23699710 + 24616659 24629870 + 6480464 19237537;17006537;16713569;15489334;15146197;15093743;14702039;12693554;12477932;10422847;8744354;8125298;22605335;22607974;17069764;20614026;22253853;12629548;19136968;20588308;20005846;21078624;21292167;21903422;21987572;21139048;21890473;21906983;22427816;22430200;21163940;22863777;22505724;23032186;23032187 55072 H0YKI4;H0YKX0;H0YM13;H0YM57;H0YM83;H0YMG4;H0YMG8;H0YMK6;H0YMN0;H0YNC1;H0YNJ0;H0YNK5;H0YNT1;Q96EP0 AB265810;ABBA01061333;ABBA01061334;AK000973;AK027154;AK055542;AK122711;AK225832;AK291247;AL136295;AMYH01005610;AY256461;BC009821;BC012077;BC017376;BI459554;BI544688;CD742923;CH471078;CN287790;NM_017999 AAH09821;AAH12077;AAH17376;AAP12522;BAA91450;BAB15675;BAB70948;BAF35583;BAF83936;BAG53683;EAW66095;EAW66096;EAW66097;EAW66098;EAW66099;NP_060469;Q96EP0 Hs.375217;Hs.434081 1681909;2168009;5113402 G35694;RH76410;RH92448 FLJ10111;FLJ23501;HOIP;MGC19975;ZIBRA E3 ubiquitin-protein ligase RNF31;HOIL-1-interacting protein;OTTHUMP00000027978;RING finger protein 31;zinc in-between-RING-finger ubiquitin-associated domain protein APPROVED protein-coding ENSG00000092098 16031 11516 612487 VALIDATED 1604283 RNF39 ring finger protein 39 This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31636296 31641881 - 30146022 30151607 - 30038043 30043628 - 6480464 19115949;19050382;14574404;12477932;11716498;11130983;11076863;11006080;10585558;8889548;19693088;19851445;20041166;20875797;20593013;17719541 80352 A2BEK4;B0S857;Q5SRK1;Q96QB5 AB088087;AB202082;ABBA01038041;AF238315;AF238316;AF238317;AL669914;AL671859;AL845439;AMYH01016204;BA000025;BX088647;BX927229;CA311242;CH471081;CR388205;CR759763;CR759960;CR933538;NM_025236;NM_170769 AAG40628;AAG40629;AAG40630;AAI11602;BAB63333;BAC54920;BAE78602;EAX03255;EAX03256;NP_079512;NP_739575;Q9H2S5 Hs.121178 1658545;1683339;1798108;1856520;2144470;2160358 G29206;G31541;RH99256;RNF39_1552.2;STS-R63837;STS-W44579 HZF;HZFW;LIRF LTP (long-term potentiation) induced RING finger protein;OTTHUMP00000029424;OTTHUMP00000029425;RING finger protein 39;protein HZFw APPROVED protein-coding ENSG00000204618 18064 09600 607524 VALIDATED 1352323 RNF34 ring finger protein 34, E3 ubiquitin protein ligase The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012] 12 12 12 q24.31 121475573 121499826 + 120322285 120346538 + 121837886 121862155 + 6480464 15897238;15595643;15489334;15069192;14702039;12477932;12118383;8125298;20564261;19549727;17121812;18382127;21308745;21832049;21903591;22064484;16344560;19531213;22493164 80196 G3V4D1;G3V504;G3V566;G3V5F1;H7BYJ1;Q969K3 AB084914;ABBA01020163;AC048337;AF306709;AK024957;AK025439;AK096994;AK130355;AK225285;AL557811;AMYH01004812;AY098934;BC007826;BC039029;BC046174;BI559962;BT007283;CH471054;CR457342;DA887995;DB242808;NM_001256858;NM_025126;NM_194271 AAH07826;AAK51328;AAM29180;AAP35947;BAB15132;BAC11802;CAG33623;EAW98262;EAW98263;EAW98264;NP_001243787;NP_079402;NP_919247;Q969K3 Hs.292804 1676556;1725653;1796712;1846875;2128428;2168293;2184256 D12S1398;G35016;G62101;NIB1331;RH64995;RNF36_1732;SGC32343 CARP-1;CARP1;FLJ21786;RFI;RIF;RIFF;hRFI E3 ubiquitin-protein ligase RNF34;FYVE-RING finger protein MOMO;OTTHUMP00000246294;OTTHUMP00000246295;OTTHUMP00000246297;RING finger protein RIFF;caspase regulator CARP1;caspases-8 and -10-associated RING finger protein 1;human RING finger homologous to inhibitor of apoptosis protein APPROVED protein-coding ENSG00000170633 17297 10509 608299 REVIEWED 737292 RNF38 ring finger protein 38 This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 9 9 9 p13 36269750 36334476 - 36326397 36391195 - 36336397 36401195 - 6480464 16381901;16344560;15489336;15489334;15164053;14702039;12477932;12074600;11752456;11230166;11076863;8889548;12874135;19549727;20308539;21906983;19322201;22493164;22505724 152006 B1AM81;Q9H0F5 ABBA01050429;ABBA01050430;AF394047;AK024996;AK025466;AK093480;AK097653;AL120640;AL136817;AL161792;AL354935;AMYH01019348;AV690059;AX748155;BC033786;BG722531;BI459742;BI520161;BU731024;CH471071;DA189510;DA483270;NM_022781;NM_194328;NM_194329;NM_194330;NM_194332 AAH33786;AAM73697;ABM86161;ABW03690;BAB15050;BAG52726;CAB66751;CAL37560;EAW58305;NP_073618;NP_919309;NP_919310;NP_919311;NP_919313;Q9H0F5 Hs.333503 1340568;1660736;1674186;1705518;1720039;1738263;1796714;2148444;2185034;7185658 D9S1221;D9S1791;G17285;RH123814;RH46497;RNF38_807;SHGC-104;SHGC-83857;WI-21063 FLJ21343 OTTHUMP00000021376;OTTHUMP00000196925;OTTHUMP00000196926;RING finger protein 38 APPROVED protein-coding ENSG00000137075 18052 11519 612488 REVIEWED 732458 RNF40 ring finger protein 40, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 16 16 16 p11.2-p11.1 29510882 29523813 - 30681131 30694040 + 30772933 30787628 + 1580863;6480464 17081983;16307923;16303743;16189514;15489334;14702039;12477932;12121982;10944455;9734811;19410543;19615732;20738173;21329877;20811636;21827756;23022380;18029348;22155569;19471022;21362549;22021426;22558309;21139048;22031019;22354749 9810 A8K6K1;F8W8Z4;H3BP71;H3BQ99;H3BS50;H3BUL6;I3L332;O75150;R4GN66 AB014561;ABBA01042056;AC106886;AF122819;AI373490;AK027406;AK054773;AK075526;AK131310;AK291666;AK293710;AK294258;AK297531;AK304521;AL708520;AL712808;AMYH01007499;BC004527;BC006133;BC011769;BC018647;BC030802;BC113827;BX640763;CH471192;CR627431;NM_001207033;NM_001207034;NM_014771 AAG13723;AAH04527;AAH06133;AAH11769;AAH18647;AAH30802;ABM84369;ABM87793;BAA31636;BAB55092;BAD18476;BAF84355;BAG52163;BAG57143;BAG57553;BAG59933;BAG65325;CAE45869;CAH10518;EAW52197;EAW52198;EAW52199;EAW52200;NP_001193962;NP_001193963;NP_055586;O75150 Hs.65238 1677848;1699184 RH103172;RH65200 BRE1B;DKFZp686K191;KIAA0661;MGC13051;RBP95;STARING 95 kDa retinoblastoma protein binding protein;95 kDa retinoblastoma-associated protein;BRE1 E3 ubiquitin ligase homolog B;BRE1-B;E3 ubiquitin-protein ligase BRE1B;OTTHUMP00000163227;Rb-associated protein APPROVED protein-coding ENSG00000103549 16867 07411 607700 REVIEWED 737478 RNF4 ring finger protein 4 The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010] 4 4 p16.3 2440605 2487382 + 2470795 2517586 + 1580863;6480464 15572661;9710597;19524139;19380586;18408734;15489334;12885770;12874792;12477932;12351196;11719514;11696545;11319220;10849425;10822263;10713105;10617653;9734812;9479498;17762865;20696907;16344560;20379614;8889548;19549727;19690564;20936779;14987998;20211142;21252943;21857666;20943951;22106342;15231748;21963094;23000965;23211528;22661229;22661230;21983342;15707587;18029348;23086935;22505724;23028697;23504328;23530056;23543742;23560854 6047 D6R9E0;D6RA71;D6RAD8;D6RBQ7;D6RBZ1;D6RJ08;D6RJF5;F5H1U2;H0YAI5;P78317 AB000468;ABBA01029503;ABBA01029504;ABBA01029505;AK128038;AK307372;AK309509;AK311314;AK312534;AL645924;AMYH01013877;AMYH01013878;BC031935;BU682428;BX322586;CB993989;CH471131;DA342512;DB064628;NM_001185009;NM_001185010;NM_002938;U95140 AAC52022;AAH31935;ABZ92180;BAA19122;BAG35433;BAG54620;EAW82522;EAW82523;EAW82524;EAW82525;EAW82526;NP_001171938;NP_001171939;NP_002929;P78317 Hs.66394 1682159;1688524;1690360;1739321;2110949;2121372;5016478 Cda0fc06;D4S2764E;D4S816E;GDB:434012;RH64743;RH64880;RH65312 RES4-26;SLX5;SNURF E3 ubiquitin ligase RNF4;E3 ubiquitin-protein ligase RNF4;OTTHUMP00000218370;OTTHUMP00000218371;OTTHUMP00000218372;OTTHUMP00000218373;OTTHUMP00000218374;OTTHUMP00000218376;OTTHUMP00000218383;RING finger protein 4;small nuclear RING finger protein APPROVED protein-coding ENSG00000063978 10067 04167 602850 REVIEWED 5131388 RNF6P1 ring finger protein (C3H2C3 type) 6 pseudogene 1 21 21 25943378 25944036 - 40745689 40746347 - 100420924 ABBA01009339;AF064861;AMYH01012251;NG_025045 1808992;1844884;1844980;1899048;1899050;1899052;1899054;1899056;1899058;1899060;1899062;1899064;1899066;1899068;1899070;1899072;1899074 ECD05479;ECD23658;ECD23706;REN20322;REN20323;REN20324;REN20325;REN20326;REN20327;REN20328;REN20329;REN20330;REN20331;REN20332;REN20333;REN20334;REN20335 pseudo 39922 INFERRED 1319962 RNF41 ring finger protein 41 This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] 12 12 q13.13 54884552 54902002 - 56596288 56615753 - 6480464;6907045 11867753;17210635;17035239;15489334;15314180;14765125;14676191;12477932;12411582;11358394;9110174;8619474;18541373;19800834;20098290;20587519;20628057;19549727;19690564;17403666;21378310;15342556;15632191;20508642;21693106;21832049;21576364;20360068;21139048;21890473;17145873;17384230;19322201;22493164 10193 F8VNZ6;F8VSB6;F8VSE5;F8VSP7;F8VVY2;Q9H4P4 ABBA01008411;ABBA01008412;AC073896;AF077599;AK300752;AK304576;AK314811;AL080105;AMYH01004502;AY007109;BC011626;BC024284;BC032637;BC036267;BC095418;BI562407;BP201682;BU170070;CB989647;CH471054;DC316022;NM_001242826;NM_005785;NM_194358;NM_194359;NR_040053 AAC27647;AAG01988;AAH32637;ABZ92287;BAG37335;BAG62420;BAG65365;EAW96909;EAW96910;EAW96911;NP_001229755;NP_005776;NP_919339;NP_919340;Q9H4P4 Hs.524502 1648640;1648642;1777242;1798110;5014051;5015619;5015861;5016478;5020946;5037552;7185938 A002D43;D10S16;D11S3114;D8S2278;D8S2279;G19966;GDB:434012;L17971;RH48368;RNF41_1849 FLRF;MGC45228;NRDP1;SBBI03 E3 ubiquitin-protein ligase NRDP1;OTTHUMP00000243503;OTTHUMP00000243504;OTTHUMP00000243505;OTTHUMP00000243506;OTTHUMP00000243507;OTTHUMP00000243508;OTTHUMP00000243509;fetal liver ring finger;neuregulin receptor degradation protein-1 APPROVED protein-coding 18401 11520 REVIEWED 5508551 RNF7P1 ring finger protein 7 pseudogene 1 3 57505399 57505737 - 100506872 ABBA01024417;AC092418;AMYH01013223;NG_030103 pseudo 43425 INFERRED 1342772 RNF43 ring finger protein 43 RNF43 is a HAP95 (AKAP8L; MIM 609475) binding ubiquitin ligase that promotes cell growth and is upregulated in colon cancer (Yagyu et al., 2004 [PubMed 15492824]; Sugiura et al., 2008 [PubMed 18313049]).[supplied by OMIM, Dec 2008] 17 17 17 q22 52892826 52956720 - 53786036 53849893 - 56431037 56494931 - 6480464 18313049;16344560;15623641;15492824;15489334;14702039;12477932;19336002;19690564;20686608;21108931;22895187;18655028;23136185;23096461 54894 J3KSE3;Q68DV7 AB081837;ABBA01041334;AC004687;AC023992;AK000322;AK291027;AK296769;AK298789;AK299024;AK309297;AMYH01008512;BC109028;CH471109;CR627423;CR749257;DA457410;DA723235;NM_017763 AAI09029;BAA91085;BAD51435;BAF83716;BAH12429;BAH12871;BAH12931;CAH10510;CAH18113;EAW94458;EAW94459;NP_060233;Q68DV7 Hs.584916 1657976;1661589;1672042;1682421;1691738;1691776;1693842;1720117;2123667;2158423;2187152 G42215;G42244;G42609;RH123800;RH36262;RH45569;RH93017;SHGC-34835;STS-H72889;STS-H82846;WI-11652 DKFZp781H02126;DKFZp781H0392;FLJ20315;FLJ77466;FLJ99338;MGC125630;RNF124;URCC E3 ubiquitin-protein ligase RNF43;RING finger protein 43 APPROVED protein-coding ENSG00000108375 18505 07896 612482 VALIDATED 1316271 RNF44 ring finger protein 44 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 172536728 172547449 + 175886306 175897027 - 175953700 175964421 - 6480464 15489334;12477932;10470851;8889548;7757816;21906983;22267201;22505724 22838 B4DYE0;D6RAW5;D6RHW8;H0Y9W0;Q7L0R7 AB029023;ABBA01033492;AC010316;AC091934;AK127673;AK302385;AL547765;AMYH01015861;AMYH01015862;BC039833;BC063297;BM672494;CH471195;NM_014901;Z39041 AAH39833;AAH63297;BAA83052;BAC87078;BAG63702;EAW85070;EAW85071;EAW85072;NP_055716;Q7L0R7 Hs.434888 1740361;2159509 D5S2191E;HSC0XH122 KIAA1100 OTTHUMP00000161248;RING finger protein 44 APPROVED protein-coding ENSG00000146083 19180 15265 REVIEWED 6903414 RNFT1P1 ring finger protein, transmembrane 1 pseudogene 1 2 20183884 20185006 - 100420886 ABBA01018485;AC079145;AMYH01010148;NG_023550 pseudo 44387 INFERRED 6903416 RNFT1P2 ring finger protein, transmembrane 1 pseudogene 2 1 p31.1 78636154 78636927 - 100132264 ABBA01074391;AC096531;AMYH01000723;NG_022725 pseudo 44388 INFERRED 1603249 RNF5P1 ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1 8 8 8 p11.22 37411033 37412120 - 38576848 38577932 - 38457691 38458775 - 16176924;15489334;14656967;14574404;12861019;12477932;11329381;9533025;20686608 286140 ABBA01023525;AC069120;AMYH01018654;BG315135;NR_003129 Hs.512071 1678331;1679343;1681314;1684674;2161377 RH40485;RH65115;RH67947;RH80855;STS-D60277 APPROVED pseudo 31053 PROVISIONAL 1352556 RNF5 ring finger protein 5, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008] 6 6 p21.3 32254140 32256548 + 32146162 32148570 + 1580863;6480464;6907045 12861019;14667819;16901789;9533025;19285439;19143821;17804730;16176924;15761153;15489334;15485865;14656967;14574404;12477932;11329381;10967549;8889548;2259622;11603805;18216283;19269966;19851445;19549727;19690564;23105109;21148293;21139048;21890473;21906983;22433715;18781797;20152160;20483786;15545318;22750442;18555783;22493164;21594788;22190034;22505724 6048 E7EM95;Q99942 AB056869;ABBA01038108;AJ243936;AK296212;AK311859;AL555609;AL662830;AL662884;AL845464;AMYH01016234;BC004155;BC020290;BC111392;BC119741;BC119742;BC127651;BC127652;BC148255;BM712189;BT007105;BU599297;BX284686;BX927239;CH471081;CQ834264;CR812478;CR933878;NM_006913;U89336 AAB47492;AAH04155;AAI11393;AAI19742;AAI19743;AAI27652;AAI27653;AAI48256;AAP35769;ADZ15674;BAB39359;BAG34800;BAG58938;CAB51286;CAH05347;EAX03607;EAX03608;EAX03609;NP_008844;Q99942 Hs.731774 1678331;1679343;1681314;1684674;2161369;2161377;2190893 D6S1871;MARC_10431-10432:999637141:1;RH40485;RH65115;RH67947;RH80855;STS-D60277 RING5;RMA1 E3 ubiquitin-protein ligase RNF5;OTTHUMP00000029107;hsRma1;protein G16;ram1 homolog APPROVED protein-coding ENSG00000204308 10068 04057 602677 REVIEWED 5128964 RNGTTP1 RNA guanylyltransferase and 5'-phosphatase pseudogene 1 21 21 12199271 12199945 + 27015857 27016531 + 100421428 ABBA01057211;AMYH01012174;AP000223;NG_025063 pseudo 39652 INFERRED 1314509 RNF6 ring finger protein (C3H2C3 type) 6 The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008] 13 13 13 q12.2 7855135 7864738 - 25684905 25694508 - 26786905 26796508 - 1599613;1580863;6480464;7240710 12154016 10331950;18368307;16204183;15489334;12477932;11971979;12874135;19345326;19549727;15342556;16344560;19454010;21906983 6049 B4DDP0;Q9Y252 ABBA01007913;AF293342;AJ010346;AJ010347;AK293272;AK312435;AL133621;AL138966;AMYH01004983;AY009109;BC034688;BI461269;BP310130;BU633523;CH471075;CR749238;DB062601;DC310579;NG_017042;NM_005977;NM_183043;NM_183044 AAG49400;AAH34688;AAK00848;ABM82407;ABM87824;BAG35344;BAG56801;CAB40413;CAB40414;CAB63747;CAH18094;EAX08380;EAX08381;EAX08382;EAX08383;NP_005968;NP_898864;NP_898865;Q9Y252 Hs.136885 2155718;2177599 RH45794;RH46975 DKFZp686P0776 E3 ubiquitin-protein ligase RNF6;OTTHUMP00000018154;OTTHUMP00000018155;OTTHUMP00000018156;RING finger protein 6;RING-H2 protein RNF-6 APPROVED protein-coding ENSG00000127870 10069 05027 133239;604242 REVIEWED 1606007 RNFT1 ring finger protein, transmembrane 1 17 17 17 q23.1 54493237 54505631 - 55384505 55396899 - 58029723 58042117 - 6480464 12477932;19913121;20628086;19690564;21890473;21963094;23251661 51136 B4DJR4;E9PI44;H0YEZ8;K7EJ18;Q5M7Z0 ABBA01003182;AC004686;AC005702;AF100745;AK098649;AK294806;AK295162;AK296197;AMYH01008526;BC006971;BC088365;CH471109;DB456985;NM_016125 AAD43009;AAH88365;BAC05364;BAG57925;BAG58176;BAG58926;EAW94378;EAW94379;EAW94380;EAW94381;NP_057209;Q5M7Z0 Hs.531701 1690304;5018953 G42236;RH98194 MGC111090;PTD016 OTTHUMP00000192879;PTD016 protein;RING finger and transmembrane domain-containing protein 1 protein-coding ENSG00000189050 30206 17925 615172 VALIDATED 1322298 RNF7 ring finger protein 7 The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 3 3 q22-q24 142939741 142947933 + 141457051 141465645 + 1580863;6480464;6907045 20933570;19250909;10082581;18454945;17828303;17217622;16874460;16189514;15489334;12748192;12565832;12477932;12470599;11999705;11861641;11710515;11506706;11255262;11027288;10851089;10748083;10512750;10506102;10443936;10230407;10230406;22841784;11483504;16325183;19549727;20098747;20103673;16344560;18029348;18624398;20603330;21980433;22171132;19300455;20638939;19953087;21145461;22405651;22493164;19037258;22190034;22190037 9616 F8WEU8;Q9UBF6 ABBA01059039;AC112771;AF092878;AF142060;AF164679;AF312226;AK311982;AMYH01013543;AW150174;BC005966;BC008627;BF439211;BG715867;BG716023;BG720797;BG742338;BT007348;BU959624;CA415974;CH471052;DB272382;NM_001201370;NM_014245;NM_183237;NR_037702;NR_037703 AAD25962;AAD30147;AAD55984;AAH05966;AAH08627;AAK37450;AAP36012;ABM82685;ABM85869;BAG34921;EAW78991;EAW78992;EAW78993;EAW78994;EAW78995;EAW78996;NP_001188299;NP_055060;NP_899060;Q9UBF6 Hs.134623 1689757;5015619;5022578;5037552 D11S3114;D1S1423;D8S2279;RH93677 CKBBP1;ROC2;SAG CKII beta-binding protein 1;OTTHUMP00000180644;OTTHUMP00000180645;OTTHUMP00000213937;RING-box protein 2;rbx2;regulator of cullins 2;sensitive to apoptosis gene protein;sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2;zinc RING finger protein SAG APPROVED protein-coding 10070 04840 603863 REVIEWED 1322859 RNGTT RNA guanylyltransferase and 5'-phosphatase 6 6 6 q16 89737906 90091236 - 89376708 89730067 - 89319989 89673348 - 1580863;6480464;6907045 9473487;9512541;9790902;17081983;15342556;14569024;12477932;12408826;11278368;10421630;9828141;9705270;9371772;20379614;20339536;22990118;21636784;17314511;22589738;21139048;21890473;21906983;21963094;23349942;23667531;19380743;22505724 8732 B4DSJ8;O60942;Q5TCW7 AB009022;AB009023;AB009024;AB012142;AB012143;ABBA01040519;ABBA01040520;ABBA01040521;ABBA01040522;ABBA01040523;AF025654;AK295719;AK299777;AK312407;AL079342;AL096868;AL133408;AL160403;AL445530;AMYH01016498;BC019954;BP256840;BX537450;CH471051;NM_003800 AAB91559;AAH19954;ADZ15512;BAA25198;BAA25199;BAA25894;BAA25895;BAA25896;BAG35320;BAG58562;BAG61660;CAD97693;EAW48566;EAW48567;EAW48568;EAW48569;EAW48570;NP_003791;O60942 Hs.567378 1659894;1704200;1705550;1707178;1754135;2021912;2165480;2186089;2186174 D6S1185E;D6S2152;D6S993;REN81954;RH48379;SHGC-132166;SHGC-79173;SHGC-79830;SHGC-83877 CAP1A;DKFZp686J2031;HCE;HCE1;hCAP HCAP1;OTTHUMP00000016841;OTTHUMP00000016842;mRNA-capping enzyme protein-coding ENSG00000111880 10073 04621 603512 VALIDATED 1605925 RNFT2 ring finger protein, transmembrane 2 12 12 12 q24.22 116805647 116920975 + 115660479 115775819 + 117176096 117291436 + 6480464 16541075;15489334;14702039;12975309;12477932;22005931;21890473;23251661 84900 E9PAM7;F8VZS7;F8W6L4;Q96EX2 ABBA01020022;AC083806;AC090013;AK027533;AK093164;AMYH01004779;AY358585;BC011878;BG719293;BQ676121;CA432422;CH471054;NM_001109903;NM_032814 AAH11878;AAQ88948;BAB55182;EAW98090;EAW98091;EAW98092;NP_001103373;NP_116203;Q96EX2 Hs.437195 1650118;1740091;1758285;2139906;2143726;2144081;2160906 A008B04;D12S1573;D12S2079;D12S2126;G17816;SHGC-147915;WI-16979 FLJ14627;TMEM118 OTTHUMP00000198646;OTTHUMP00000198647;RING finger and transmembrane domain-containing protein 2;transmembrane protein 118 protein-coding ENSG00000135119 25905 08600 VALIDATED 7204942 RNMTL1P1 RNA methyltransferase like 1 pseudogene 1 10 21682962 21683521 + 100420295 ABBA01034502;AL158209;AMYH01002171;NG_025475 pseudo 44905 INFERRED 7204945 RNMTL1P2 RNA methyltransferase like 1 pseudogene 2 7 18001702 18002656 + 100420223 AACC02000008;ABBA01056646;AC080080;AMYH01017097;CH236948;NG_026539 pseudo 44906 INFERRED 7242431 RNPC3P1 RNA-binding region (RNP1, RRM) containing 3 pseudogene 1 654340 ABBA01030919;AC139700;AMYH01013266;NG_022206 pseudo 47036 INFERRED 1320337 RNLS renalase, FAD-dependent amine oxidase Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008] 10 10 q23.31 90023601 90332988 - 90033621 90343082 - 737633;6480464 12477932 17846126;17565281;17216203;15841207;15489334;15342556;15164054;14702039;8889548;21424526;20302943;17207965;20975995;16385451;19430480;19471322;20168325;21163940;22891215;21699903;22812913;21996211;21964580;22172866;22227817;21617193 55328 B4DJW3;Q5VYX0 AA854849;ABBA01021955;ABBA01021956;AK002080;AK296262;AL139406;AL353149;AL365185;AMYH01002932;AMYH01002933;BC005364;BM978857;BP332262;BX648154;CH471066;NM_001031709;NM_018363 AAH05364;ADQ32670;BAA92073;BAG58975;EAW50167;EAW50168;EAW50169;EAW50170;EAW50171;NP_001026879;NP_060833;Q5VYX0 Hs.149849 1704660;1713561;1723193;1756307;1846664;2135459;2155658;2158055 AFM280WE1;D10S2339;RH120267;RH122278;RH65491;RH68820;SHGC-143261;SHGC-77962 C10orf59;FLJ11218;RENALASE MAO-C;OTTHUMP00000020034;OTTHUMP00000020035;monoamine oxidase-C;renalase APPROVED protein-coding 25641 07742 609360 VALIDATED 1317571 RNF8 ring finger protein 8, E3 ubiquitin protein ligase The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 6 6 p21.3 37429726 37470492 + 37321748 37362514 + 1580863;6480464 18001825;18001824;18948756;19124460;18550271;18337245;18171988;18077395;18006705;17724460;16344560;16189514;15489334;15231747;14981089;14702039;14574404;12477932;11322894;9852682;9734811;8889548;8125298;20713529;16712791;19913121;20628086;19797077;20075863;20080757;20081839;19549727;20016603;16226712;23230272;23233665;22865450;21412056;21558560;21635870;21774837;21698222;22373579;22405594;22508508;21857671;20023648;21664912;16215985;20656690;22068108;21911360;22589545;21139048;21906983;22266820;22531782;21706008;22705371;18678647;23115235;23255131;22493164;22814251 9025 C9J858;F8WDH8;F8WEW6;H7C4L7;O76064 AB012770;AB014546;ABBA01038281;ABBA01038282;ABBA01038283;AF334675;AK022075;AK222765;AK298319;AK308840;AL096712;AL711279;AMYH01016282;BC007517;BE327572;BF110581;BG029939;BM979512;BT007446;CA418096;CH471081;DA064222;NM_003958;NM_183078;NR_046399 AAH07517;AAP36114;AAQ14887;ABM81663;ABM84835;BAA31621;BAA33557;BAD96485;BAG60572;EAX03943;EAX03944;EAX03945;NP_003949;NP_898901;O76064 Hs.485278 1665691;1666220;1687057;2107553;2117809;2117811;5118718 A004W02;D11S3590;HSC2PC102;RH45129;RH46751;RH93720;RNF8_725.2 FLJ12013;KIAA0646;hRNF8 C3HC4-type zinc finger protein;E3 ubiquitin-protein ligase RNF8;OTTHUMP00000016323;OTTHUMP00000216659;UBC13/UEV-interacting ring finger protein;ring finger protein (C3HC4 type) 8 APPROVED protein-coding ENSG00000112130 10071 11521 611685 REVIEWED 1351342 RNMTL1 RNA methyltransferase like 1 17 17 17 p13.3 697654 707881 + 632263 642491 + 685513 695741 + 6480464 21145461;17353931;14702039;12477932;12296377;8125298;19615732;17207965;20877624;22990118;21832049;22939629;20186120 55178 I3L0T6;I3L443;Q9HC36 ABBA01054619;AC087392;AF177344;AK001443;AK222900;AK225128;AMYH01007979;BC011550;BC050614;CH471108;NM_018146 AAG17988;AAH11550;AAH50614;ADQ33196;BAA91694;BAD96620;EAW90642;NP_060616;Q9HC36 Hs.182729 1648471;1683124 RH91924;STS-AA030010 FLJ10581;HC90 OTTHUMP00000115320;RNA methyltransferase-like protein 1;putative RNA methyltransferase protein-coding ENSG00000171861 18485 15266 612600 PROVISIONAL 5553024 RNPS1P1 RNA binding protein S1, serine-rich domain pseudogene 1 4 4 p15.33 10972081 10984486 + 11370474 11375363 + 643446 ABBA01032529;AC006230;AMYH01014000;CH471069;NG_023467 EAW92696;EAW92697;EAW92698 1677480;1688588;2166525;2189115 G65141;RH69048;SHGC-53120;SHGC-67834 pseudo 39525 INFERRED 1351869 RNR1 RNA, ribosomal 1 6480464;6907045 6052 10082 180450 1350800 RNR2 RNA, ribosomal 2 p12 6907045 11350117;7557999;6954460;4091818;3865188;3785147;3649563;2989541;2606358;2319598;2047879 6053 AF305858;NR_024197 1735226;1794558;2164672;5023539 D3S2893E;NIB250;PMC316374P5;PMC31832P1 rrna 10083 180451 735371 RNH1 ribonuclease/angiogenin inhibitor 1 Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010] 11 11 p15.5 484512 497273 - 494512 507283 - 1580863;6480464 2742853;3064806;3470787;2081593;17956129;17350650;15936590;15755456;15592448;15489334;14702039;12477932;11342552;9311977;8264799;8037455;6653993;3243277;3219362;3219361;2276743;18930025;19034380;19596235;19615732;20381070;10413501;21276451;21125316;22863883;22939629;17314511;18029348;22586326;18781797;21139048;21890473;21906983;21987572;22162762;22053931;22190034;22505724;22944692 6050 E9PIK5;E9PIM9;E9PLZ3;E9PMA9;E9PMI1;E9PMJ3;E9PMN0;E9PR82;H0YCR7;P13489 AB209196;ABBA01015186;ABBA01015187;AC137894;AK027172;AK057144;AK308340;AK310173;AK311379;AL161967;AL534410;AL539148;AMYH01003286;AY071904;BC000677;BC003506;BC011186;BC011500;BC014629;BC024037;BC047730;BG716555;BG720935;BG752774;BM019570;BM465975;BM562998;BQ650217;BQ927358;BQ954409;CH471158;DC296330;M22414;M36717;NM_002939;NM_203383;NM_203384;NM_203385;NM_203386;NM_203387;NM_203388;NM_203389;X13973 AAA59130;AAA60249;AAH00677;AAH03506;AAH11186;AAH11500;AAH14629;AAH24037;AAH47730;AAL60586;ADZ16053;BAB15684;BAD92433;CAA32151;CAB82310;EAX02330;EAX02331;EAX02332;EAX02333;EAX02334;EAX02335;EAX02336;NP_002930;NP_976317;NP_976318;NP_976319;NP_976320;NP_976321;NP_976322;NP_976323;P13489 Hs.530687 1742577;1778197;1851146;2180537;5022200;5022651 D11S2921;GDB:197903;L18426;RH78931;RNH;SHGC-31515 MGC18200;MGC4569;MGC54054;RAI;RNH OTTHUMP00000147628;OTTHUMP00000229864;OTTHUMP00000229865;OTTHUMP00000229866;OTTHUMP00000229870;OTTHUMP00000229871;OTTHUMP00000229872;Placental ribonuclease inhibitor;placental RNase inhibitor;ribonuclease inhibitor APPROVED protein-coding ENSG00000023191 10074 01412 173320 VALIDATED 1347966 RNR3 RNA, ribosomal 3 11350117;6954460 6054 10084 180452 1345442 RNR4 RNA, ribosomal 4 6055 10085 180453 1344556 RNR5 RNA, ribosomal 5 6056 U13369 10086 180454 1352403 RNRP1 RNA, ribosomal pseudogene 1 3557129 6057 10087 1342900 RNRP2 RNA, ribosomal pseudogene 2 6058 10088 1344291 RNU1-10P RNA, U1 small nuclear 10, pseudogene 1 1 1 q21.1 121093307 121093470 - 142438537 142438700 - 143647014 143647177 - 6085956 26856 BX284650;M25188;NG_001259 RNU1P10;U1.4;U1P14 APPROVED pseudo 10133 INFERRED 1319473 RNMT RNA (guanine-7-) methyltransferase 18 18 p11.21 13716704 13754554 + 13726704 13764554 + 1359071;1580863;6480464;6907045 11472630 21145461;9790902;9512541;19161160;15767670;15489334;12477932;11114884;10589710;10347220;9828141;9705270;9455477;7275966;20379614;18029348;21139048;21906983 8731 F5H2D9;K7EP06;K7EPP5;K7ERH6;O43148 AB007858;AB020966;AB022604;AB022605;AB022606;ABBA01074042;AF067791;AK292561;AK296370;AK303842;AMYH01008851;AMYH01008852;AP001525;BC005290;BC017816;BC036798;BX647977;CH471113;EF445026;NM_003799 AAC63269;AAH05290;AAH17816;AAH36798;ACA06068;BAA23694;BAA74462;BAA74463;BAA74464;BAA82447;BAF85250;BAH12334;BAH14065;EAX01505;EAX01506;EAX01507;NP_003790;O43148 Hs.592347 1645223;1645225;1666672;1678263;1679822;1679832;1710002;1710280;1729916;1857570;2164335;2219642 A001X09;A008X02;D18S40;G19740;RH36895;RH42013;RH64890;RNMT__5512;SHGC-82271;SHGC-85236;STS-D29135;WI-20101 DKFZp686H1252;KIAA0398;MET;RG7MT1;hCMT1c OTTHUMP00000162509;hCMT1;hMet;hcm1p;mRNA (guanine-7-)methyltransferase;mRNA (guanine-N(7)-)-methyltransferase;mRNA cap guanine-N7 methyltransferase;mRNA cap methyltransferase protein-coding ENSG00000101654 10075 04622 603514 PROVISIONAL 1347098 RNU1-11P RNA, U1 small nuclear 11, pseudogene 6 6 p24.1 14447250 14447465 + 13214272 13214487 + 6180116;6173130 26861 ABBA01022124;AL008729;AMYH01016092;J00319;NG_001264 RNU1P1;RNU1P5;U1P1A APPROVED pseudo 10137 INFERRED 1345451 RNU1-12P RNA, U1 small nuclear 12, pseudogene q21.2 3837185 6063 AADB02368648;ABBA01000381;M28010;NG_001184 RNU1P2;U1P2A APPROVED pseudo 10134 INFERRED 1349649 RNU1-13P RNA, U1 small nuclear 13, pseudogene 1 1 1 q21.1 121119425 121119586 - 142464652 142464813 - 143673129 143673290 - 6085956 26860 BX284650;M25189;NG_001263 RNU1P6;U1.1;U1P1 APPROVED pseudo 10138 INFERRED 1350307 RNPC3 RNA-binding region (RNP1, RRM) containing 3 Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008] 1 1 1 p21 102260908 102290242 + 103893839 103899384 + 104068578 104097861 + 6480464 21832049;22939629;18559850;16096647;15146197;15146077;14974681;12477932;11347906;18482256;15231748 55599 A8K1C9;E9PPV2;H0YE07;H0YEB8;Q96LT9 ABBA01045412;AC095032;AC105272;AK000015;AK057799;AK289844;AL137730;AMYH01000842;AY099329;BC010697;BK005195;BX322653;CH471097;CN386195;NM_017619 AAH10697;AAM45139;BAA90885;BAB71580;BAF82533;CAB70897;DAA05493;EAW72901;EAW72905;EAW72906;NP_060089;Q96LT9 Hs.632423 1679996;2116807;5019124;5113773;5118444;5126686 D11S3316;RH102107;RH66389;RH80323;SHGC-34189;SHGC-75240 DKFZp667O0118;FLJ20008;FLJ25070;KIAA183;RBM40;RNP;SNRNP65 OTTHUMP00000233769;OTTHUMP00000233771;RNA recognition protein;RNA-binding motif protein 40;RNA-binding protein 40;RNA-binding region-containing protein 3;U11/U12 small nuclear ribonucleoprotein 65 kDa protein;U11/U12 snRNP 65 kDa protein;U11/U12 snRNP 65K;U11/U12-65K APPROVED protein-coding ENSG00000185946 18666 15267 REVIEWED 6481504 RNU1-16P RNA, U1 small nuclear 16, pseudogene 100873860 AL442125;NG_032634 U1.64 pseudo 39890 INFERRED 6481577 RNU1-17P RNA, U1 small nuclear 17, pseudogene 5 180156586 180156737 + 100873814 ABBA01010081;AC113427;AMYH01015972;NG_032596 pseudo 41943 INFERRED 1342987 RNU1-15P RNA, U1 small nuclear 15, pseudogene 7 7 7 p15.3 21406515 21406646 + 21387506 21387637 + 21420981 21421112 + 6085956 26858 AACC02000007;ABBA01056682;AC005094;AMYH01017105;CH236948;M25191;NG_001261 RNU1P8;U1P11 APPROVED pseudo 10140 INFERRED 1346841 RNU1-14P RNA, U1 small nuclear 14, pseudogene 7 7 7 p12.1 53494429 53494582 + 53401245 53401398 + 53433751 53433904 + 6173130;6085956 26859 AACC02000088;ABBA01011832;AC007735;AMYH01017254;CH236957;M25192;NG_001262 RNU1P7;U1P17 APPROVED pseudo 10139 INFERRED 6481578 RNU1-18P RNA, U1 small nuclear 18, pseudogene 6 122532794 122532957 + 100873815 ABBA01025986;AL512323;AMYH01016634;NG_032597 pseudo 41944 INFERRED 1345778 RNU1-2 RNA, U1 small nuclear 2 1 p36.1 17222475 17222638 + 3837185 26870 ABBA01000255;AMYH01000293;BX284668;M28012;M28013;NR_004427 RNU1C1;RNU1C2;U1C1;U1C21 APPROVED snrna ENSG00000207005 10123 VALIDATED 6481505 RNU1-19P RNA, U1 small nuclear 19, pseudogene 10 88649326 88649490 + 100873861 ABBA01033687;AC025268;AMYH01002901;NG_032635 pseudo 41945 INFERRED 6481579 RNU1-20P RNA, U1 small nuclear 20, pseudogene 3 192447344 192447505 - 100873816 ABBA01058302;AC079623;AMYH01013765;NG_032598 pseudo 41946 INFERRED 6481509 RNU1-21P RNA, U1 small nuclear 21, pseudogene 100873862 AP000868;NG_032636 pseudo 41947 INFERRED 6481508 RNU1-22P RNA, U1 small nuclear 22, pseudogene 16 3136144 3136301 + 100873863 ABBA01026726;AC108134;AMYH01007089;NG_032637 pseudo 41963 INFERRED 6481507 RNU1-24P RNA, U1 small nuclear 24, pseudogene 13 102431234 102431398 - 100873865 ABBA01027080;AL160153;AMYH01005338;NG_032638 U1.41 pseudo 42504 INFERRED 2793761 RNU1-6 RNA, U1 small nuclear 6 1 q21.2 147511004 147511167 - 100312957 ABBA01017294;AC239803;AMYH01001373;BX537254;NR_030723 snrna ENSG00000206585 37499 VALIDATED 1352899 RNU105B RNA, U105B small nucleolar 20 20 p12.3 8881370 8881578 + 8811832 8812040 + 7530998 26767 ABBA01053926;AL031683;AMYH01011705;NG_028168;NR_004386;U12207 105B;E1-2 snorna 10103 VALIDATED 1342826 RNU105A RNA, U105A small nucleolar 1 1 p35.3 27230847 27231004 + 28835070 28835227 + 7530998 26768 ABBA01035034;AL513497;AMYH01000431;NR_004404;U12211 1767391 SHGC-74505 105A;E1c snorna 10102 PROVISIONAL 1349469 RNU105C RNA, U105C small nucleolar 8 8 q11.23 51233825 51234034 + 55243246 55243455 + 7530998 26766 ABBA01041742;AC027250;AMYH01018727;NR_004385;U12208 E1-5;E1-6 snorna ENSG00000199212 10104 PROVISIONAL 1346363 RNU11 RNA, U11 small nuclear 1 1 p35 27371308 27371442 + 28975112 28975246 + 6480464 2973606;15146077;20347424 26824 ABBA01035051;AL840644;AMYH01000434;NR_004407;X58716 Hs.640266 RNU11-1;U11 snrna ENSG00000209804;ENSG00000270103 10108 PROVISIONAL 1349922 RNU12-2P RNA, U12 small nuclear 2, pseudogene X X X p11.23 51187392 51187544 + 46876657 46877200 + 46992071 46992223 + 19217400;7489523;15146077 26823 ABBA01052303;AL513366;AMYH01022258;L43845;NG_013273 RNU12;RNU12P;U12 APPROVED pseudo 10109 INFERRED 1347071 RNU17C RNA, U17C small nucleolar 26764 10117 1349295 RNU1A RNA, U1A small nuclear p36.1 6480464 19169258;16373497;12837281;12697817;12082087;12034819;6198328;6180116;15456888 6060 J00318;NR_004421 HU1-1;RNU1;RNU1G4;Rnu1a1;U1 snrna 10120 180680 1348485 RNU1A3 RNA, U1A3 small nuclear p36.1 6179629;3837185 26871 M14385;NR_004430 HSD1;U1A1 snrna 10121 68982 RNU1B RNA, U1B small nuclear 6061 10122 1349662 RNU1C2 RNA, U1C2 small nuclear p36.1 3837185 26869 M28013;NR_004408 U1C21 snrna 10124 1346912 RNU1D2 RNA, U1D2 small nuclear p36.1 6179629 26868 M14585;NR_004426 HSD5;U1B2;U1D2 snrna 10125 1350496 RNU1F1 RNA, U1F1 small nuclear p36.1 6179629 26866 M14587;NR_004402 HSD7;U1F snrna 10127 1348919 RNU1E2 RNA, U1E2 small nuclear p36.1 6179629 26867 M14586 U1E2 snrna 10126 1353181 RNU1G1 RNA, U1G1 small nuclear p36.1 6179629 26865 M14586;M20034;NR_004424 HSD6;RNU1E2;U1E2 snrna 10128 1350487 RNU1G2 RNA, U1G2 small nuclear p36.1 6179629 26864 M14585;M20033;NR_004426 HSD2;HSD5;RNU1D2;U1B2;U1D2 snrna 10129 1345159 RNU1G4 RNA, U1G4 small nuclear 6180116 26862 J00318 10131 1347698 RNU1G3 RNA, U1G3 small nuclear p36.1 6179629;3837185 26863 M14387;M20032;NR_004400 HSD4 snrna 10130 1343691 RNU1P1 RNA, U1 small nuclear pseudogene 1 q12-q22 3837185 6062 M28011;NG_001183 U1P101 pseudo 10132 1354050 RNU1P3 RNA, U1 small nuclear pseudogene 3 3837186 6064 10135 1351596 RNU1P9 RNA, U1 small nuclear pseudogene 9 1 q21.1 147490682 147490845 - 6085956 26857 AL356957;M25190;NG_001260 U1.15;U1P15 pseudo 10141 1350084 RNU1P4 RNA, U1 small nuclear pseudogene 4 3837186 6065 10136 1351079 RNU2-3P RNA, U2 small nuclear 3, pseudogene 15 15 q26.2 72705225 72705490 + 96289033 96289298 + 6209403;6172777 26854 AC015574;K03024;NG_001258 RNU2P1;U2 APPROVED pseudo 10153 INFERRED 1350456 RNU2-4P RNA, U2 small nuclear 4, pseudogene 17 17 17 q21.31 38175131 38175419 - 38820123 38820411 - 41464597 41464885 - 6201719 26853 ABBA01028418;AC087650;AMYH01008406;K02228;NG_001257 RNU2P2;U2;U2/7 APPROVED pseudo 10154 INFERRED 1344410 RNU12 RNA, U12 small nuclear 22 22 22 q13.2 26921735 26921883 + 41340864 41341593 + 43011251 43011399 + 7489523;2973606 267010 ABBA01017933;AMYH01012821;J04119;L43846;NR_029422;Z93241 Hs.574857 RNU12-1;RNU12L;RNU12P;dJ222E13.7 APPROVED snrna ENSG00000199382 19380 VALIDATED 1343360 RNU2-5P RNA, U2 small nuclear 5, pseudogene 9 9 9 q21.12 43393883 43394059 - 71993310 71993486 - 72803490 72803666 - 6165010 26852 AL392044;K00779;NG_001256 RNU2P3 APPROVED pseudo 10155 INFERRED 6481465 RNU2-6P RNA, U2 small nuclear 6, pseudogene 100873825 AL139801;NG_032605 pseudo 42506 INFERRED 6481467 RNU2-7P RNA, U2 small nuclear 7, pseudogene 100873824 AL161772;NG_032604 pseudo 42505 INFERRED 1347729 RNU3A2 RNA, U3A2 small nucleolar p11.2 9365252 26850 AF020530 u3 snorna 10169 1346913 RNU3A3 RNA, U3A3 small nucleolar p11.2 9365252 26849 AF020531 U3a snorna 10170 1345715 RNU3B1 RNA, U3B1 small nucleolar p11.2 9365252 26848 AF020533 U3b1 snorna 10171 1343109 RNU3B2 RNA, U3B2 small nucleolar p11.2 9365252 26847 AF020532 U3b1 snorna 10172 1352521 RNU3B3 RNA, U3B3 small nucleolar p11.2 9365252 26846 AF020536 U3b2 snorna 10173 1346919 RNU3B4 RNA, U3B4 small nucleolar p11.2 9365252 26845 AF020529 U3 snorna 10174 1343238 RNU3P1 RNA, U3 small nucleolar pseudogene 1 15 15 q22.1 35940599 35940814 - 59052665 59052880 - 2719960 6068 ABBA01038983;AC090515;AMYH01006681;NG_001185;X14946 U3 pseudo 10175 INFERRED 1345745 RNU3P2 RNA, U3 small nucleolar pseudogene 2 8 8 p21.3 19434905 19434975 - 20472367 20472437 - 6186397 26844 ABBA01021544;AC090805;AMYH01018561;K00773;NG_001255 U3;U3.2 pseudo 10176 INFERRED 1349861 RNU3P3 RNA, U3 small nucleolar pseudogene 3 14 14 14 q31.3 65782618 65782762 + 84808002 84808146 + 85738249 85738393 + 6186397;6173130 26843 ABBA01030576;AL157957;AMYH01005921;K00774;NG_001254 U3;U3.5;u3.7 pseudo 10177 INFERRED 1350847 RNU2-2P RNA, U2 small nuclear 2, pseudogene 11 11 11 q12.3 59932490 59932627 - 62365672 62365809 - 62609096 62609233 - 6238232 26855 ABBA01003246;AMYH01003691;AP001160;K02847;NR_002761 1792376 PMC150226P1 RNU2B;U2 APPROVED snrna 10152 VALIDATED 1352419 RNU3P4 RNA, U3 small nucleolar pseudogene 4 3 3 3 q27.1 181327861 181327931 - 184375373 184375516 - 182892725 182892795 - 6186397 26842 ABBA01058485;AC104641;AMYH01013705;K00775;NG_001253 U3;U3.6 pseudo 10178 INFERRED 5688425 RNU4-10P RNA, U4 small nuclear 10, pseudogene 13 q22.1 73765665 73765804 + 100862676 ABBA01050345;AL158191;AMYH01005205;NG_032106 pseudo 42508 INFERRED 1350883 RNU4-1B RNA, U4 small nuclear 1B 12 12 12 q24.31 120362677 120362820 - 119213949 119214089 - 120729563 120729706 - 6169000 26836 K00472;NR_002759 RNU4B1;U4A;U4b rna, u4b1 small nuclear snrna 10191 1354125 RNU4-2 RNA, U4 small nuclear 2 12 12 q24.31 120362680 120362820 - 120729566 120729706 - 9847074;6169000;3582982 26834 ABBA01020106;AC004263;AMYH01004799;K00472;K00473;M15957;NR_003137 1793894 PMC30488P1 RNU4-1B;RNU4B1;RNU4C;U4A;U4b;U4c rna, u4c small nuclear snrna ENSG00000202538 10193 PROVISIONAL 1342825 RNU4-1 RNA, U4 small nuclear 1 12 12 12 q24.31 120364011 120364154 - 119215280 119215423 - 120730897 120731040 - 14691257;12384583;9847074;6169000;3582982;2176635;23022480;23221635;17332742 26835 ABBA01020106;AC004263;AMYH01004799;M15956;NR_003925;V00592;X59361 RNU4A;RNU4B2;U4;U4BL rna, u4b2 small nuclear snrna ENSG00000200795 10192 PROVISIONAL 1346431 RNU4-4P RNA, U4 small nuclear 4, pseudogene 3 3 3 q26.31 170913226 170913428 - 173996892 173997094 - 172514198 172514400 - 2582241 26840 AC108667;NG_001251;X02652 1340924;7184450 D3S1556 RNU4P4;U4;U4/5 APPROVED pseudo 10197 INFERRED 1349079 RNU4-3P RNA, U4 small nuclear 3, pseudogene 18 18 18 q12.2 30652604 30652806 + 32098698 32098900 + 33844700 33844902 + 2582241 26841 ABBA01022431;AC023043;AMYH01008939;M11384;NG_001252;X02651 RNU4P3;U4;U4/4 APPROVED pseudo 10196 INFERRED 1343805 RNU4-5P RNA, U4 small nuclear 5, pseudogene 10 10 10 q25.1 105361248 105361450 + 111619554 111619756 + 111629564 111629766 + 2582241 26839 ABBA01063040;AL354951;AMYH01003059;NG_001250;X02653 RNU4P5;U4;U4/6 APPROVED pseudo 10198 INFERRED 1351832 RNU4-6P RNA, U4 small nuclear 6, pseudogene X X X p22.2 21011397 21011600 - 16803161 16803364 - 16893240 16893443 - 2582241 26838 ABBA01071482;AL929302;AMYH01022114;NG_001249;X02654 2167943 AFMB343YD5 RNU4P6;U4;U4/8 APPROVED pseudo 10199 INFERRED 1343871 RNU4-7P RNA, U4 small nuclear 7, pseudogene 6 6 6 q25.1 151382619 151383118 - 150689393 150689892 - 150647700 150648199 - 2583518 6069 ABBA01025662;AL357561;AMYH01016743;M24746;NG_001186 RNU4P1;U4;U4/7 APPROVED pseudo 10194 INFERRED 1351806 RNU4-8P RNA, U4 small nuclear 8, pseudogene 2 2 2 q11.2 92484735 92485413 - 97647187 97647865 - 98280755 98281433 - 2583518 6070 ABBA01073975;AC017099;AMYH01010795;M24745;NG_001187 RNU4P2;U4;U4/14 APPROVED pseudo 10195 INFERRED 5688424 RNU4-9P RNA, U4 small nuclear 9, pseudogene 13 q12.11 21612668 21612806 - 100862675 ABBA01068597;AL161613;AMYH01004953;NG_032105 FLJ13161 pseudo 42507 INFERRED 1347384 RNU4A RNA, U4A small nuclear 14691257;12384583;6169000;2176635 26837 V00592;X59361 U4 snrna 10190 2302447 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011] 2 2 2 q14.2 115613101 115613230 + 122288456 122288585 + 122288456 122288585 + 7240710 21474760;21474761;22581640;11971955;14691257;12374753;8791582;2409455;21815888;21990275 100151683 ABBA01032241;AC012447;AMYH01010996;NG_029832;NR_023343 Hs.689638 MOPD1;RNU4ATAC1;TALS;U4ATAC APPROVED snrna ENSG00000208506;ENSG00000264229 34016 210710;601428 REVIEWED 6481445 RNU4ATAC2P RNA, U4atac small nuclear 2, pseudogene 5 158745050 158745175 + 100873889 ABBA01044239;AC011418;AMYH01015756;NG_032648 pseudo 39003 INFERRED 6481472 RNU5A-2P RNA, U5A small nuclear 2, pseudogene 100873830 AC006287;NG_032610 pseudo 42515 INFERRED 1354124 RNU5A RNA, U5A small nuclear 1302268 1310151 6164980 26833 X04215 U5A snrna 10211 180691 6481474 RNU5A-3P RNA, U5A small nuclear 3, pseudogene 8 30501206 30501319 + 100873831 ABBA01023662;AC102945;AMYH01018618;NG_032611 pseudo 42519 INFERRED 6481477 RNU5A-5P RNA, U5A small nuclear 5, pseudogene 1 231806381 231806496 + 100873835 ABBA01033043;AL359543;AMYH01001819;NG_032615 pseudo 42525 INFERRED 6481511 RNU5A-4P RNA, U5A small nuclear 4, pseudogene 13 34403676 34403786 - 100873870 ABBA01010162;AL139081;AMYH01005026;NG_032643 pseudo 42521 INFERRED 6481513 RNU5A-6P RNA, U5A small nuclear 6, pseudogene 18 21704134 21704249 - 100873871 ABBA01022620;AC090772;AMYH01008891;NG_032644 pseudo 42527 INFERRED 6481517 RNU5A-7P RNA, U5A small nuclear 7, pseudogene 100873872 AC012158;NG_032645 pseudo 42529 INFERRED 6481483 RNU5A-8P RNA, U5A small nuclear 8, pseudogene 1 210547498 210547611 - 100873838 ABBA01048200;AL034351;AMYH01001697;NG_032618 pseudo 42530 INFERRED 2293168 RNU5B-2P RNA, U5B small nuclear 2, pseudogene 3 3 p22.1 40483174 40483260 - 40540408 40540494 - 100147750 AC121754;NG_007589 2187142 RH65996 APPROVED pseudo 34182 INFERRED 1345743 RNU5B-1 RNA, U5B small nuclear 1 15 15 15 q22.31 42475189 42475305 + 63384068 63384184 + 65597015 65597131 + 1302268 1310151 6164980 26832 ABBA01038855;AC105129;AMYH01006718;NR_002757;X04293 RNU5B;RNU5B-1P;U5B1 snrna ENSG00000200156 10212 VALIDATED 2293167 RNU5B-3P RNA, U5B small nuclear 3, pseudogene 3 3 p21.31 45013962 45014033 - 45076010 45076081 - 100147751 ABBA01024733;AC104165;AMYH01013126;NG_007590 2108585;2121211 RH70861;TNA_8680 APPROVED pseudo 34183 INFERRED 2293166 RNU5B-4P RNA, U5B small nuclear 4, pseudogene 5 5 q31.2 134903875 134903986 + 138783596 138783707 + 100147752 ABBA01068638;AC142391;AMYH01015651;NG_007591 1339471 D5S594 APPROVED pseudo 34184 VALIDATED 2293165 RNU5B-5P RNA, U5B small nuclear 5, pseudogene 9 9 q33.3 98837185 98837272 + 128188068 128188155 + 100147753 ABBA01043789;AL627223;AMYH01021711;NG_007592 APPROVED pseudo 34185 VALIDATED 2293164 RNU5B-6P RNA, U5B small nuclear 6, pseudogene 10 10 q25.1 104684314 104684391 - 110944688 110944765 - 100147754 AL138766;NG_007593 APPROVED pseudo 34186 INFERRED 1353881 RNU5C RNA, U5C small nuclear 15 q22.31 63375442 63375558 + 1302268 1310151 6200827 26831 AC068213;K03167;NR_002756 U5B1 snrna 10213 180691 1350907 RNU5D-1 RNA, U5D small nuclear 1 1 1 1 p34.1 13265086 13265130 + 44969328 44969427 - 45196741 45196840 - 1302268 1310151 26830 AL122004;AMYH01000567;M77838;NR_002755 RNU5D;U5DL;U5DS APPROVED snrna ENSG00000200169 10214 VALIDATED 6481482 RNU5D-2P RNA, U5D small nuclear 2, pseudogene 9 135297028 135297077 + 100873841 ABBA01032487;AL353701;AMYH01021787;NG_032621 pseudo 42534 INFERRED 6481444 RNU5E-10P RNA, U5E small nuclear 10, pseudogene 11 47598023 47598140 - 100873888 ABBA01060699;AC104942;AMYH01003544;NG_032647 pseudo 42533 INFERRED 6481473 RNU5E-2P RNA, U5E small nuclear 2, pseudogene 1 236026688 236026737 - 100873827 ABBA01033145;AL133286;AMYH01001850;NG_032607 pseudo 42511 INFERRED 6481470 RNU5E-3P RNA, U5E small nuclear 3, pseudogene 4 48576470 48576537 - 100873828 ABBA01014352;AC096952;AMYH01014162;NG_032608 pseudo 42512 INFERRED 6481471 RNU5E-4P RNA, U5E small nuclear 4, pseudogene 1 11969865 11969984 - 100873829 ABBA01003062;AL021155;AMYH01000258;NG_032609 pseudo 42513 INFERRED 6481512 RNU5E-5P RNA, U5E small nuclear 5, pseudogene 100873869 AC093024;NG_032642 pseudo 42520 INFERRED 6481476 RNU5E-6P RNA, U5E small nuclear 6, pseudogene 1 45285555 45285669 - 100873832 ABBA01050907;AL592166;AMYH01000568;NG_032612 pseudo 42522 INFERRED 6481479 RNU5E-7P RNA, U5E small nuclear 7, pseudogene 2 16005059 16005175 + 100873836 ABBA01015684;AC113608;AMYH01010134;NG_032616 pseudo 42526 INFERRED 6481481 RNU5E-8P RNA, U5E small nuclear 8, pseudogene 100873837 AC068303;NG_032617 pseudo 42528 INFERRED 6481480 RNU5E-9P RNA, U5E small nuclear 9, pseudogene 2 179007275 179007378 + 100873840 ABBA01062241;AC011238;AMYH01011304;NG_032620 pseudo 42532 INFERRED 1344416 RNU5F-1 RNA, U5F small nuclear 1 1 1 1 p34.1 14106517 14106577 - 44960045 44960160 - 45187458 45187573 - 1302268;6480464 1310151 26828 ABBA01050915;AL122004;AMYH01000567;M77840;NR_002753 RNU5F;U5F APPROVED snrna ENSG00000199377 10216 VALIDATED 6481466 RNU5F-2P RNA, U5F small nuclear 2, pseudogene 1 179545403 179545484 + 100873826 ABBA01027812;AL160286;AMYH01001532;NG_032606 pseudo 42510 INFERRED 6481503 RNU5F-3P RNA, U5F small nuclear 3, pseudogene 18 6017722 6017838 - 100873866 ABBA01049887;AMYH01008789;AP001021;NG_032639 pseudo 42514 INFERRED 6481506 RNU5F-4P RNA, U5F small nuclear 4, pseudogene 12 31747027 31747140 - 100873867 ABBA01031747;AC022080;AMYH01004367;NG_032640 pseudo 42516 INFERRED 6481510 RNU5F-5P RNA, U5F small nuclear 5, pseudogene 22 30306777 30306829 - 100873868 ABBA01055287;AC004819;AMYH01012705;NG_032641 pseudo 42518 INFERRED 6481475 RNU5F-6P RNA, U5F small nuclear 6, pseudogene 100873833 AL357512;NG_032613 pseudo 42523 INFERRED 6481478 RNU5F-7P RNA, U5F small nuclear 7, pseudogene X 15934312 15934426 - 100873834 ABBA01071364;AC004106;AMYH01022110;NG_032614 pseudo 42524 INFERRED 6481485 RNU5F-8P RNA, U5F small nuclear 8, pseudogene 100873839 AL358176;NG_032619 pseudo 42531 INFERRED 1343798 RNU6-1 RNA, U6 small nuclear 1 15 15 15 q23 45020334 45020439 - 68132278 68132383 - 68132278 68132383 - 3360322;15469824;23022480;17332742;22246180;17632523;23319000;12711679;23426875;20125193 26827 ABBA01038789;AC009292;AMYH01006735;M14486;NR_004394 1792586 PMC154217P4 RNU6;RNU6A;U6;U6-1 snrna ENSG00000206625 10227 180692 PROVISIONAL 6481599 RNU6-10 RNA, U6 small nuclear 10 7 92331022 92331128 - 100873745 AACC02000014;ABBA01045797;AC004128;AMYH01017691;CH236949;NR_046484 snrna 34254 PROVISIONAL 6481595 RNU6-14 RNA, U6 small nuclear 14 9 15776179 15776284 - 100873746 ABBA01065268;AL359877;AMYH01019250;NR_046485 snrna ENSG00000207360 34258 PROVISIONAL 2312691 RNU6-15 RNA, U6 small nuclear 15 10 10 21298523 21298629 + 21610890 21610996 + 100302741 ABBA01034504;AL731547;AMYH01002169;NR_028372 snrna ENSG00000207264 34259 PROVISIONAL 1346894 RNU5E-1 RNA, U5E small nuclear 1 1 1 1 p36.22 11081844 11081962 + 11890798 11890916 + 11968211 11968329 + 1302268 1310151 26829 ABBA01003062;AL021155;M77839;NR_002754 RNU5E;U5E APPROVED snrna ENSG00000199347 10215 PROVISIONAL 6481601 RNU6-16 RNA, U6 small nuclear 16 11 88345973 88346079 - 100873753 ABBA01011532;AMYH01003865;AP006215;NR_046486 snrna 34260 PROVISIONAL 6481604 RNU6-19 RNA, U6 small nuclear 19 15 65845419 65845525 - 100873754 ABBA01038847;AC011846;AMYH01006719;NR_046487 snrna ENSG00000207449 34263 PROVISIONAL 1350166 RNU6-2 RNA, U6 small nuclear 2 10 10 10 p13 13186131 13186175 + 13299337 13299381 + 13259269 13259375 + 6173742;20125193;22246180;23319000 26826 ABBA01034632;AL138764;K03099;NR_002752 1792590;2154135 PMC154217P6;RH69595 RNU6B;U6 snrna 10228 VALIDATED 2312694 RNU6-21 RNA, U6 small nuclear 21 16 16 46725018 46725124 - 62221444 62221550 - 100302738 ABBA01025356;AC092124;AMYH01007726;NR_028369 snrna ENSG00000207441 34265 PROVISIONAL 6481603 RNU6-23 RNA, U6 small nuclear 23 16 70479199 70479302 - 100873755 ABBA01010661;AC012184;AMYH01007784;NR_046488 snrna ENSG00000200153 34267 PROVISIONAL 6481606 RNU6-28 RNA, U6 small nuclear 28 22 31875371 31875474 - 100873756 ABBA01055333;AL096701;AMYH01012717;NR_046489 snrna 34272 PROVISIONAL 6481598 RNU6-30 RNA, U6 small nuclear 30 X 100888994 100889100 - 100873747 ABBA01045008;AC234775;AL121883;AMYH01022734;NR_046490 snrna ENSG00000207291 34274 PROVISIONAL 6481593 RNU6-33 RNA, U6 small nuclear 33 4 89605999 89606105 - 100873748 ABBA01063555;AC108065;AMYH01014387;NR_046491 snrna ENSG00000207524 34277 PROVISIONAL 6481602 RNU6-34 RNA, U6 small nuclear 34 4 97073450 97073554 - 100873749 ABBA01063638;AC096661;AMYH01014409;NR_046492 snrna ENSG00000201744 34278 PROVISIONAL 6481596 RNU6-35 RNA, U6 small nuclear 35 4 110913481 110913587 + 100873750 ABBA01063786;AC004050;AMYH01014458;NR_046493 snrna 34279 PROVISIONAL 6481519 RNU6-36 RNA, U6 small nuclear 36 12 98115494 98115600 + 100873757 ABBA01053298;AC007424;AMYH01004686;NR_046494 snrna ENSG00000206899 34280 PROVISIONAL 2312690 RNU6-42 RNA, U6 small nuclear 42 3 3 195092958 195093064 - 196511851 196511957 - 100302742 ABBA01033756;AC055725;AMYH01013797;NR_028373 snrna ENSG00000206892 34286 PROVISIONAL 6481521 RNU6-39 RNA, U6 small nuclear 39 18 66526171 66526277 + 100873758 ABBA01056275;AC096708;AMYH01009073;NR_046495 snrna 34283 PROVISIONAL 6481523 RNU6-45 RNA, U6 small nuclear 45 11 63737942 63738048 + 100873759 ABBA01003282;AMYH01003699;AP000721;NR_046496 snrna ENSG00000207200 34289 PROVISIONAL 6481525 RNU6-46 RNA, U6 small nuclear 46 11 67663102 67663208 + 100873760 ABBA01024022;AMYH01003751;AP003716;NR_046497 snrna ENSG00000206587 34290 PROVISIONAL 1352195 RNPEPL1 arginyl aminopeptidase (aminopeptidase B)-like 1 2 2 2 q37.3 235180436 235190476 + 241156777 241166817 + 241508004 241518149 + 1580863;6480464 15815621;15489334;14702039;12477932;11017071;20549515;17554300;19508204;20414141;21906983 57140 C9JSI2;H7C200;Q9HAU8 ABBA01048874;AC124862;AF300795;AK001668;AK130185;AK130805;AL512754;AMYH01011623;BC017301;BC067258;BC082975;BC099906;CH471063;NM_018226 AAG22080;AAH17301;AAH67258;AAH82975;AAH99906;AAX88943;BAA91823;CAC21674;EAW71193;EAW71194;EAW71195;NP_060696;Q9HAU8 Hs.5345 1781322;2106587;2140175;2147852;2148522 G31178;RH47255;RH69633;RH70105;RNPEPL1__5513 FLJ10806;FLJ26675;MGC99544 OTTHUMP00000164508;RNPEP-like 1;argininyl aminopeptidase-like 1;arginyl aminopeptidase-like 1 protein-coding 10079 07545 605287 VALIDATED 6483751 RNU6-48P RNA, U6 small nuclear 48, pseudogene 1 27651710 27651816 + 100887744 ABBA01034969;AL663123;AMYH01000422;NR_049779;NR_103808 KIAA1037 APPROVED snrna 34292 PROVISIONAL 1351539 RNU6-50 RNA, U6 small nuclear 50 X X X p11.3 50568902 50569179 + 46262002 46262279 + 46377058 46377335 + 2998934;22246180 26825 AL031393;K03026;NG_001248 RNU6-50P;RNU6P1;U6 APPROVED pseudo 10229 INFERRED 6481520 RNU6-52 RNA, U6 small nuclear 52 13 19717122 19717217 + 100873761 ABBA01068549;AL139327;AMYH01004934;NR_046927 snrna ENSG00000252675 42542 PROVISIONAL 6481524 RNU6-53 RNA, U6 small nuclear 53 13 29277839 29277944 - 20708005 100873762 ABBA01035723;AL359454;AMYH01004994;NR_046928 snrna 42543 PROVISIONAL 6481526 RNU6-55 RNA, U6 small nuclear 55 13 19443325 19443431 - 100873763 ABBA01068539;AL391382;AMYH01004934;NR_046929 snrna 42545 PROVISIONAL 6481529 RNU6-56 RNA, U6 small nuclear 56 13 39353561 39353653 + 100873764 ABBA01021320;AL590007;AMYH01005045;NR_046930 snrna 42546 PROVISIONAL 6481530 RNU6-57 RNA, U6 small nuclear 57 13 41928693 41928795 - 100873765 ABBA01021272;AL590665;AMYH01005061;NR_046931 snrna ENSG00000223280 42547 PROVISIONAL 6481527 RNU6-58 RNA, U6 small nuclear 58 13 23791571 23791673 - 100873766 ABBA01007869;AL356287;AMYH01004968;NR_046932 snrna ENSG00000252952 42548 PROVISIONAL 733030 RNPEP arginyl aminopeptidase (aminopeptidase B) 1 1 1 q32 175075517 175099029 + 200218389 200241898 + 201951766 201975275 + 1581649;1580863;1582109;2325950;2325942;6480464 16537183;16619500;3001599;9660082 12119107;10467730;16981702;15489334;14702039;12477932;9533033;9405297;8895530;8344358;15231748;22586326;18781797;21139048;21906983;21862451;22797925 6051 A6NKB8;C9JMZ3;H7C2T3;Q9H4A4 ABBA01027521;ABBA01027522;AC099676;AJ242586;AJ296161;AK026644;AK097372;AK129946;AL390139;AMYH01001644;BC001064;BC012166;BN000001;BQ898593;BX648806;CH471067;NM_020216;Z36876 AAH01064;AAH12166;ABM87011;ABW03849;CAB99087;CAC12957;CAC14047;CAD29858;EAW91386;EAW91387;NP_064601;Q9H4A4 Hs.497391 1651003;2108427 RNPEP_8596;SHGC-33108 DKFZp547H084 AP-B;OTTHUMP00000034046;OTTHUMP00000034047;OTTHUMP00000034048;arginine aminopeptidase protein-coding ENSG00000176393 10078 04055 602675 VALIDATED 6481587 RNU6-6 RNA, U6 small nuclear 6 2 201694732 201694839 + 100873740 ABBA01062521;AC005037;AMYH01011400;NR_046482 snrna ENSG00000207116 34250 PROVISIONAL 6481532 RNU6-63 RNA, U6 small nuclear 63 13 28062275 28062369 + 100873768 ABBA01035745;AL137059;AMYH01004991;NR_046934 snrna ENSG00000252499 42553 PROVISIONAL 6481533 RNU6-59 RNA, U6 small nuclear 59 13 22125443 22125549 - 100873767 ABBA01068607;AL138680;AMYH01004959;NR_046933 snrna 42549 PROVISIONAL 6481528 RNU6-64 RNA, U6 small nuclear 64 13 30855902 30856006 + 100873769 ABBA01035702;AL356750;AMYH01005007;NR_046935 snrna ENSG00000252928 42554 PROVISIONAL 6481535 RNU6-66 RNA, U6 small nuclear 66 13 73687052 73687155 - 100873770 ABBA01050342;AL354720;AMYH01005202;NR_046936 snrna ENSG00000200267 42556 PROVISIONAL 6481531 RNU6-67 RNA, U6 small nuclear 67 13 83872206 83872302 - 100873771 ABBA01021736;AL512782;AMYH01005245;NR_046937 snrna ENSG00000222791 42557 PROVISIONAL 6481538 RNU6-68 RNA, U6 small nuclear 68 13 46984589 46984692 + 100873772 ABBA01050988;AL138686;AMYH01005093;NR_046938 snrna ENSG00000252385 42558 PROVISIONAL 6481534 RNU6-69 RNA, U6 small nuclear 69 13 45711997 45712100 - 100873773 ABBA01021220;AL138693;AMYH01005084;NR_046939 snrna ENSG00000252055 42559 PROVISIONAL 6481540 RNU6-71 RNA, U6 small nuclear 71 13 36841305 36841411 + 100873774 ABBA01021361;AL139377;AMYH01005038;NR_046940 snrna ENSG00000207203 42561 PROVISIONAL 6481537 RNU6-72 RNA, U6 small nuclear 72 13 86158883 86158988 - 100873775 ABBA01012305;AL355580;AMYH01005257;NR_046941 snrna ENSG00000207012 42562 PROVISIONAL 6481539 RNU6-75 RNA, U6 small nuclear 75 13 91434020 91434123 - 100873776 ABBA01027246;AL355799;AMYH01005286;NR_046942 snrna ENSG00000251753 42565 PROVISIONAL 6481536 RNU6-76 RNA, U6 small nuclear 76 13 19454194 19454297 + 100873777 ABBA01068539;AL391382;AMYH01004934;NR_046943 snrna ENSG00000206787 42566 PROVISIONAL 6481541 RNU6-78 RNA, U6 small nuclear 78 13 26091257 26091363 + 100873778 ABBA01007905;AL356316;AMYH01004978;NR_046944 snrna 42568 PROVISIONAL 6481545 RNU6-79P RNA, U6 small nuclear 79, pseudogene 13 73455246 73455352 - 100873779 ABBA01050337;AL391384;AMYH01005201;NR_046945 APPROVED snrna ENSG00000199381 42569 PROVISIONAL 6481586 RNU6-8 RNA, U6 small nuclear 8 3 98523822 98523928 - 100873741 ABBA01061814;AC106728;AMYH01013353;NR_046483 snrna 34252 PROVISIONAL 6481547 RNU6-82 RNA, U6 small nuclear 82 13 28806638 28806744 + 100873781 ABBA01035728;AL356915;AMYH01004993;NR_046947 snrna 42572 PROVISIONAL 6481542 RNU6-81 RNA, U6 small nuclear 81 13 64357934 64358037 + 100873780 ABBA01050255;AL445238;AMYH01005177;NR_046946 snrna ENSG00000202478 42571 PROVISIONAL 6481544 RNU6-83 RNA, U6 small nuclear 83 13 99677488 99677599 + 100873782 ABBA01027132;AL391122;AMYH01005325;NR_046948 snrna ENSG00000207298 42573 PROVISIONAL 2311266 RNU6ATAC2P RNA, U6atac small nuclear 2, pseudogene 5 5 5 q11.2 52547054 52547178 - 55593392 55593516 - 55593392 55593516 - 100151685 ABBA01015762;AC016638;AMYH01015096;NG_007720 APPROVED pseudo 34092 INFERRED 2302446 RNU6ATAC RNA, U6atac small nuclear (U12-dependent splicing) 9 9 9 q34.2 107574837 107574961 - 137029562 137029686 - 137029562 137029686 - 11971955;14691257;12374753;8791582;2409455 100151684 ABBA01021994;AMYH01021821;BX649601;NR_023344 Hs.545589 RNU6ATAC1;U6ATAC snrna ENSG00000221676 34017 601429 PROVISIONAL 2311265 RNU6ATAC3P RNA, U6atac small nuclear 3, pseudogene 17 17 17 q21.32 41448004 41448128 + 44998490 44998614 + 44998490 44998614 + 100151686 ABBA01041106;AC005670;AMYH01008444;NG_007721;NG_031806 APPROVED pseudo 34093 INFERRED 2311264 RNU6ATAC4P RNA, U6atac small nuclear 4, pseudogene 3 3 3 p22.2 36952447 36952571 - 37009683 37009807 - 37009583 37009907 - 100151687 ABBA01024860;AC011816;AMYH01013084;NG_007722 APPROVED pseudo 34094 INFERRED 1346459 RNU6V RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence 1 1 p13 108403226 108403561 - 110133927 110134262 - 1829158 6071 ABBA01068380;AL355310;AMYH01000933;NG_009877;NG_032795;X54048 1706980;5119482 D1S3455;SHGC-80989 87U6;LH87 pseudo 10230 INFERRED 2293289 RNU7-10P RNA, U7 small nuclear 10 pseudogene 3 3 p24.3 17644810 17644868 + 17706459 17706516 + 18267300 100147758 ABBA01025120;AC104451;AMYH01013005;NG_007597 U7.10 pseudo 34106 INFERRED 2293174 RNU7-1 RNA, U7 small nuclear 1 12 12 p13.31 8671600 8671662 + 7052979 7053041 + 18267300;9074930;8723724;23022480 100147744 ABBA01017669;AMYH01004212;NR_023317;U47924 2137943 RH11235 RNU7;U7.1 APPROVED snrna ENSG00000238923 34033 PROVISIONAL 2293287 RNU7-12P RNA, U7 small nuclear 12 pseudogene 10 p12.1 27521188 27521245 - 18267300 100147760 AL160291;AMYH01002205;NG_007599 FLJ10376;RNU7-100P;U7.12 pseudo 34108 INFERRED 2311263 RNU6ATAC5P RNA, U6atac small nuclear 5, pseudogene 4 4 4 q13.3 71248543 71248667 + 73892465 73892589 + 73892465 73892589 + 9847074 100151688 ABBA01022984;AC095053;AMYH01014296;NG_007723 APPROVED pseudo 34095 INFERRED 2293286 RNU7-13P RNA, U7 small nuclear 13 pseudogene 1 1 q25.3 157901556 157901615 - 184790564 184790623 - 18267300 100147761 ABBA01027729;AL136086;AMYH01001557;NG_007600 U7.13 pseudo 34109 INFERRED 2293285 RNU7-14P RNA, U7 small nuclear 14 pseudogene 20 20 q13.2 48989913 48989972 - 52285237 52285296 - 18267300 100147762 ABBA01052855;AC005914;AMYH01011992;NG_007601 U7.14 pseudo 34110 INFERRED 2293288 RNU7-11P RNA, U7 small nuclear 11 pseudogene 4 4 p14 40060451 40060511 + 39622632 39622692 + 18267300;9847074 100147759 ABBA01004127;AC108471;AMYH01014119;NG_007598 U7.11 pseudo 34107 INFERRED 2293284 RNU7-15P RNA, U7 small nuclear 15 pseudogene 5 5 q31.1 128306955 128307013 - 132176941 132176999 - 18267300 100147763 ABBA01068797;AC004500;AMYH01015617;NG_007602 1829118;1842032;2001994;2001996;2001998;2002000;2002002;2002004;2002006;2002008;2002010;2096546 ECD15686;ECD22219;REN71909;REN71910;REN71911;REN71912;REN71913;REN71914;REN71915;REN71916;REN71917;stSG601566 U7.15 pseudo 34111 INFERRED 2293283 RNU7-16P RNA, U7 small nuclear 16 pseudogene 7 7 7 q32.1 123842217 123842278 + 129045476 129045537 + 129045476 129045537 + 18267300 100147764 AACC02000035;ABBA01057635;AC009244;AMYH01017929;CH236950;NG_007603;NG_029180 U7.16 pseudo 34112 INFERRED 2293281 RNU7-18P RNA, U7 small nuclear 18 pseudogene 3 q29 195799691 195799749 + 18267300 100147766 ABBA01033706;AC024937;AMYH01013793;NG_007605 2151013 SHGC-58250 RNU7-142P;U7.18 pseudo 34114 INFERRED 2293277 RNU7-22P RNA, U7 small nuclear 22 pseudogene 10 32462613 32462671 + 18267300 100147770 ABBA01033387;AL445071;AMYH01002223;NG_007609 U7.22 pseudo 34118 INFERRED 2293282 RNU7-17P RNA, U7 small nuclear 17 pseudogene 18 18 q11.2 16429743 16429804 + 19623318 19623379 + 18267300 100147765 ABBA01022668;AC091043;AMYH01008878;NG_007604 U7.17 pseudo 34113 INFERRED 2293278 RNU7-21P RNA, U7 small nuclear 21 pseudogene 9 9 q34.13 106380867 106380927 + 135839120 135839180 + 18267300 100147769 ABBA01032477;AL593851;AMYH01021793;NG_007608 U7.21 pseudo 34117 INFERRED 2293280 RNU7-19P RNA, U7 small nuclear 19 pseudogene 3 3 p13 73011116 73011175 + 73076962 73077021 + 18267300 100147767 ABBA01030958;AC098481;AC103559;AMYH01013281;NG_007606 U7.19 pseudo 34115 INFERRED 2293279 RNU7-20P RNA, U7 small nuclear 20 pseudogene 7 7 7 q36.1 143188530 143188584 + 148518008 148518262 + 148518107 148518161 + 18267300;12853948 100147768 AACC02000041;ABBA01033596;AC006323;AMYH01018115;NG_007607;NG_032043 1713489 RH120228 U7.20 pseudo 34116 INFERRED 2293274 RNU7-26P RNA, U7 small nuclear 26 pseudogene 6 p22.1 27865284 27865343 - 18267300 100147813 ABBA01038011;AMYH01016189;NG_007620;Z98744 U7.26 pseudo 34122 INFERRED 2293275 RNU7-25P RNA, U7 small nuclear 25 pseudogene 18 18 p11.31 2969205 2969267 + 3093567 3093629 + 18267300 100147812 ABBA01049844;AMYH01008777;AP005431;NG_007619;NG_032120 U7.25 pseudo 34121 INFERRED 2293276 RNU7-23P RNA, U7 small nuclear 23 pseudogene 11 11 q13.2 64015511 64015570 + 66687234 66687293 + 18267300 100147771 ABBA01024059;AP003176;NG_007610 U7.23 pseudo 34119 INFERRED 2293272 RNU7-28P RNA, U7 small nuclear 28 pseudogene 11 11 p15.4 9986796 9986854 - 9865364 9865422 - 18267300 100147815 ABBA01061163;AC026250;AMYH01003388;NG_007622 U7.28 pseudo 34124 INFERRED 2293273 RNU7-27P RNA, U7 small nuclear 27 pseudogene 7 7 7 q32.1 122787258 122787315 + 127984136 127984193 + 127984136 127984193 + 18267300 100147814 ABBA01057677;AC010655;AMYH01017915;NG_007621;NG_015802 U7.27 pseudo 34123 INFERRED 2293271 RNU7-29P RNA, U7 small nuclear 29 pseudogene 1 1 p35.3 26866311 26866369 - 28470667 28470725 - 18267300 100147816 ABBA01035013;AL137792;AMYH01000427;NG_007623 U7.29 pseudo 34125 INFERRED 2293267 RNU7-33P RNA, U7 small nuclear 33 pseudogene 4 4 p16.3 2991459 2991517 - 3080211 3080269 - 18267300 100147820 AL390059;NG_007627 U7.33 pseudo 34129 INFERRED 2293173 RNU7-2P RNA, U7 small nuclear 2 pseudogene 2 2 q22.3 140615802 140615862 + 146902724 146902784 + 18267300 100147745 ABBA01028036;AC009476;AMYH01011150;NG_007583 1725495 RH119144 U7.2 pseudo 34098 INFERRED 2293268 RNU7-32P RNA, U7 small nuclear 32 pseudogene 3 3 q26.2 168278010 168278068 + 169878724 169878782 + 18267300 100147819 ABBA01058693;AC023891;AMYH01013642;NG_007626 U7.32 pseudo 34128 INFERRED 2293270 RNU7-30P RNA, U7 small nuclear 30 pseudogene 14 14 q32.11 71605858 71605918 + 91557420 91557480 + 18267300 100147817 ABBA01030487;AL121784;AMYH01005949;NG_007624 U7.30 pseudo 34126 INFERRED 2293266 RNU7-34P RNA, U7 small nuclear 34 pseudogene 5 q23.1 118093907 118093968 + 18267300 100147821 ABBA01068989;AC093206;AMYH01015572;NG_007628 U7.34 pseudo 34130 INFERRED 2293262 RNU7-38P RNA, U7 small nuclear 38 pseudogene 10 10 q22.1 66887069 66887124 - 73604494 73604549 - 18267300 100147825 ABBA01020372;AC073370;AMYH01002817;NG_007632 U7.38 pseudo 34134 INFERRED 2293264 RNU7-36P RNA, U7 small nuclear 36 pseudogene 9 p13.3 34018264 34018318 - 18267300 100147823 ABBA01065029;AL354989;AMYH01019331;NG_007630 FLJ20347;RNU7-112P;U7.36 pseudo 34132 INFERRED 2293265 RNU7-35P RNA, U7 small nuclear 35 pseudogene 7 7 7 p14.1 43223955 43224015 + 43234021 43234081 + 43234021 43234081 + 18267300;9847074 100147822 AACC02000040;ABBA01058181;AC004455;AMYH01017204;CH236951;NG_007629 U7.35 pseudo 34131 INFERRED 2293261 RNU7-39P RNA, U7 small nuclear 39 pseudogene 12 12 q13.12 50207005 50207063 + 51404782 51404840 + 18267300 100147826 ABBA01031593;AC087884;AMYH01004459;NG_007633;NG_021139 U7.39 pseudo 34135 INFERRED 2293172 RNU7-3P RNA, U7 small nuclear 3 pseudogene 6 6 q25.1 150573181 150573240 + 149838093 149838152 + 18267300 100147746 ABBA01025680;AL357619;AMYH01016734;NG_007584 U7.3 pseudo 34099 INFERRED 2293260 RNU7-40P RNA, U7 small nuclear 40 pseudogene 12 12 q13.3 56399526 56399585 - 56746174 56746233 - 18267300 100147827 ABBA01008423;AC025574;AMYH01004504;NG_007634 2144932 D12S1878 U7.40 pseudo 34136 INFERRED 2293259 RNU7-41P RNA, U7 small nuclear 41 pseudogene 14 14 q13.2 15178651 15178710 - 35314507 35314566 - 18267300 100147828 ABBA01061485;AL121603;AMYH01005661;NG_007635 2164311 G35901 U7.41 pseudo 34137 INFERRED 2293258 RNU7-42P RNA, U7 small nuclear 42 pseudogene 16 16 q22.1 53470107 53470166 - 68960801 68960860 - 18267300 100147829 ABBA01025509;AC009137;AMYH01007763;NG_007636 U7.42 pseudo 34138 INFERRED 2293257 RNU7-43P RNA, U7 small nuclear 43 pseudogene p13.1 18267300 100147830 AC026130;NG_007637 RNU7-118P;U7.43 pseudo 34139 INFERRED 2293256 RNU7-44P RNA, U7 small nuclear 44 pseudogene 2 q31.1 175430945 175431006 - 18267300 100147831 ABBA01062195;AC010894;AMYH01011284;NG_007638;NG_032009 2142627 RH70933 U7.44 pseudo 34140 INFERRED 2293255 RNU7-45P RNA, U7 small nuclear 45 pseudogene 2 2 q33.1 195761250 195761310 + 202006626 202006686 + 18267300 100147832 ABBA01062535;AC007283;AMYH01011403;NG_007639;NG_029005 1680723;1846981;1849295 D2S2141;RH98318;WI-12098 U7.45 pseudo 34141 INFERRED 2293254 RNU7-46P RNA, U7 small nuclear 46 pseudogene 2 2 q11.2 93662293 93662348 - 99457143 99457198 - 18267300 100147833 AC084377;NG_007640 U7.46 pseudo 34142 INFERRED 2293263 RNU7-37P RNA, U7 small nuclear 37 pseudogene X X p11.22 56988913 56988971 + 53159664 53159722 + 18267300;8267300 100147824 AL139396;NG_007631 KIAA0522;U7.37 pseudo 34133 INFERRED 2293253 RNU7-47P RNA, U7 small nuclear 47 pseudogene 3 3 q23 140943555 140943612 + 142520052 142520109 + 18267300 100147834 ABBA01059022;AC022291;AMYH01013548;NG_007641;NG_030369 U7.47 pseudo 34143 INFERRED 2293252 RNU7-48P RNA, U7 small nuclear 48 pseudogene q13 18267300 100147835 AL078591;NG_007642 FLJ11049;U7.48 pseudo 34144 INFERRED 2293269 RNU7-31P RNA, U7 small nuclear 31 pseudogene 17 17 p13.2 5433907 5433967 - 5417530 5417590 - 18267300 100147818 AC055839;NG_007625 U7.31 pseudo 34127 INFERRED 2293251 RNU7-49P RNA, U7 small nuclear 49 pseudogene 11 11 p15.2 14625510 14625566 + 14500440 14500496 + 18267300 100147836 ABBA01061106;AC018523;AMYH01003401;NG_007643 U7.49 pseudo 34145 INFERRED 2293171 RNU7-4P RNA, U7 small nuclear 4 pseudogene q15 18267300 100147747 AC025423;NG_007585 RNU7-132P;U7.4 pseudo 34100 INFERRED 2293244 RNU7-53P RNA, U7 small nuclear 53 pseudogene 5 5 5 q23.3 125852714 125852771 - 129722313 129722372 - 129722315 129722372 - 18267300 100151649 ABBA01068843;AC004226;AMYH01015608;NG_007671 U7.53 pseudo 34149 INFERRED 2293246 RNU7-51P RNA, U7 small nuclear 51 pseudogene 14 14 14 q31.1 63557602 63557660 + 83514924 83514982 + 83514924 83514982 + 18267300 100151647 ABBA01030592;AL162872;AMYH01005911;NG_007669 U7.51 pseudo 34147 INFERRED 2293245 RNU7-52P RNA, U7 small nuclear 52 pseudogene 17 17 17 q23.2 54847555 54847616 + 60460366 60460627 + 60460465 60460526 + 18267300 100151648 ABBA01035355;AC008026;AMYH01008543;NG_007670 2145098 D11S4393 U7.52 pseudo 34148 INFERRED 2293243 RNU7-54P RNA, U7 small nuclear 54 pseudogene 7 7 7 q32.1 122886614 122886674 - 128083403 128083663 - 128083504 128083564 - 18267300 100151650 ABBA01057673;AC010655;AMYH01017918;NG_007672 U7.54 pseudo 34150 INFERRED 1348179 RNU7-55P RNA, U7 small nuclear 55 pseudogene 8 8 8 p23.1 8058199 8058257 - 8967379 8967436 - 8929966 8930024 - 18267300;2249787 6075 AC087579;M35540;NG_001191 HSU7.36;HSU7.55;RNU7P4;U7;U7.55 RNA, small nuclear U7 pseudogene 4;rna, u7 small nuclear pseudogene 4 pseudo 10239 INFERRED 1347643 RNU2-1 RNA, U2 small nuclear 1 The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009] 17 17 17 q12 51506749 51506799 + 53219999 53220049 + 116543373 116543409 + 14701755;12477932;9608047;9034341;7828589;6209403;6203126;6201719;6084596;2411549;2410771;2176635;15456888;17332742;23221635;23426875 6066 AC087365;K02227;K03022;K03023;L37793;M19204;NR_002716;U57614;X01408;X02665;X59360 1733802;1742303;1792376;1989124;1989126;1989128;1989130;1989132;1989134;1989136;1989138;1989140;2093792;2160253 D17S1324;GDB:196136;PMC150226P1;REN65466;REN65467;REN65468;REN65469;REN65470;REN65471;REN65472;REN65473;REN65474;STS-T47095;stSG598251 RNU2;U2 APPROVED snrna 10142 180690 REVIEWED 2293242 RNU7-56P RNA, U7 small nuclear 56 pseudogene X X X p22.2 20904366 20904424 + 16785968 16786026 + 16785968 16786026 + 18267300 100151651 BX004861;NG_007673 1702380 DXS7987 U7.56 pseudo 34152 INFERRED 2293241 RNU7-57P RNA, U7 small nuclear 57 pseudogene 1 1 1 q21.3 127382930 127382988 + 154311220 154311278 + 154311220 154311278 + 18267300 100151652 ABBA01049481;AL162591;AMYH01001415;NG_007674 DKFZp434M202;U7.57 pseudo 34153 INFERRED 2293240 RNU7-58P RNA, U7 small nuclear 58 pseudogene 11 11 11 q12.1 56689013 56689068 + 59326273 59326328 + 59326273 59326328 + 18267300 100151653 ABBA01021502;AP000442;NG_007675 U7.58 pseudo 34154 INFERRED 2293239 RNU7-59P RNA, U7 small nuclear 59 pseudogene 11 11 11 q14.1 74585661 74585718 - 77277882 77278139 - 77277983 77278040 - 18267300 100151654 AP002789;NG_007676 U7.59 pseudo 34155 INFERRED 2293170 RNU7-5P RNA, U7 small nuclear 5 pseudogene 15 15 q21.1 22630079 22630138 - 45738663 45738722 - 18267300 100147748 AC025580;NG_007586 U7.5 pseudo 34101 INFERRED 2293250 RNU7-50P RNA, U7 small nuclear 50 pseudogene 11 11 p15.4 3807845 3807900 + 3802626 3802681 + 18267300 100147837 ABBA01032050;AC090587;AMYH01003348;NG_007644 U7.50 pseudo 34146 INFERRED 2293238 RNU7-60P RNA, U7 small nuclear 60 pseudogene 12 12 12 p13.2 16841675 16841734 + 11699313 11699572 + 11699412 11699471 + 18267300 100151655 ABBA01067822;AC007450;AMYH01004283;NG_007677 U7.60 pseudo 34156 INFERRED 2293235 RNU7-63P RNA, U7 small nuclear 63 pseudogene 16 16 16 p13.2 8968681 8968742 - 8799213 8799474 - 8799314 8799375 - 18267300 100151658 ABBA01019725;AC007224;AMYH01007137;NG_007680 U7.63 pseudo 34159 INFERRED 2293234 RNU7-64P RNA, U7 small nuclear 64 pseudogene 2 2 2 p11.2 85497315 85497372 - 85668940 85669197 - 85669041 85669098 - 18267300 100151662 ABBA01075749;AC016753;AMYH01010494;NG_007681 U7.64 pseudo 34160 INFERRED 2293236 RNU7-62P RNA, U7 small nuclear 62 pseudogene 1 p31.3 64849982 64850241 - 18267300 100151657 AL513044;NG_007679 U7.62 pseudo 34158 INFERRED 2293237 RNU7-61P RNA, U7 small nuclear 61 pseudogene 16 16 16 p11.2 29803957 29804013 + 30494457 30494515 - 30494459 30494515 - 18267300 100151656 ABBA01042030;AC116348;AMYH01007497;NG_007678 U7.61 pseudo 34157 INFERRED 2293233 RNU7-65P RNA, U7 small nuclear 65 pseudogene 6 6 6 p12.3 50868698 50868757 - 49312460 49312521 - 49312462 49312521 - 18267300 100151663 ABBA01050593;AL035687;AMYH01016338;NG_007682 U7.65 pseudo 34161 INFERRED 2293232 RNU7-66P RNA, U7 small nuclear 66 pseudogene 6 6 6 q12 65602715 65602778 - 67438634 67438897 - 67438735 67438798 - 18267300 100151664 AL450336;NG_007683 U7.66 pseudo 34162 INFERRED 2293231 RNU7-67P RNA, U7 small nuclear 67 pseudogene 8 q22.3 102319596 102319655 + 18267300 100151665 AP001330;NG_007684 U7.67 pseudo 34163 INFERRED 2293169 RNU7-6P RNA, U7 small nuclear 6 pseudogene 20 20 q13.2 47226156 47226217 + 50521508 50521569 + 18267300 100147749 ABBA01052817;AL356354;AMYH01011985;NG_007587 U7.6 pseudo 34102 INFERRED 2293230 RNU7-69P RNA, U7 small nuclear 69 pseudogene X X X q25 123291951 123292008 - 122905930 122905987 - 122905930 122905987 - 18267300 100151666 AL023575;AMYH01022935;NG_007685 1829662;1835240;1960864;1960866;1960868;1960870;1960872;1960874;1960876;1960878;2213386 ECD15963;ECD18775;REN51303;REN51304;REN51305;REN51306;REN51307;REN51308;REN51309;REN51310;stSG633442 U7.69 pseudo 34165 INFERRED 1344928 RNU7-68P RNA, U7 small nuclear 68 pseudogene X q24 119520920 119520979 - 18267300;2249787;2175614 6072 AC002476;M35537;NG_001188 HSU7.732A;RNU7P1;U7;U7.68 RNA, small nuclear U7 pseudogene 1;rna, u7 small nuclear pseudogene 1 pseudo 10236 INFERRED 2293229 RNU7-70P RNA, U7 small nuclear 70 pseudogene 1 1 1 p13.2 111407869 111407921 - 113177250 113177502 - 113177351 113177403 - 18267300 100151667 ABBA01068414;AL929470;AMYH01000949;NG_007686 U7.70 pseudo 34166 INFERRED 2293226 RNU7-73P RNA, U7 small nuclear 73 pseudogene 3 3 3 p22.2 37548211 37548265 - 37614549 37614803 - 37614650 37614704 - 18267300 100151670 ABBA01024843;AMYH01013088;AP006240;NG_007689;NG_016166 U7.73 pseudo 34169 INFERRED 2293227 RNU7-72P RNA, U7 small nuclear 72 pseudogene 20 20 20 q13.13 45149126 45149182 + 48444533 48444589 + 48444533 48444589 + 18267300 100151669 ABBA01052757;AL162615;AMYH01011968;NG_007688 U7.72 pseudo 34168 INFERRED 2293224 RNU7-75P RNA, U7 small nuclear 75 pseudogene 5 5 5 p13.2 37214170 37214230 + 37327237 37327297 + 37327237 37327297 + 18267300 100151672 ABBA01024181;AC025449;AMYH01015031;NG_007691 U7.75 pseudo 34171 INFERRED 2293222 RNU7-77P RNA, U7 small nuclear 77 pseudogene 10 10 10 p11.21 35189707 35189763 + 35424372 35424428 + 35424372 35424428 + 18267300 100151674 ABBA01033345;AL157783;AMYH01002235;NG_007693;NG_029065 U7.77 pseudo 34173 INFERRED 2293228 RNU7-71P RNA, U7 small nuclear 71 pseudogene 16 16 16 q22.2 57171661 57171718 - 72855834 72855891 - 72855834 72855891 - 18267300;9847074 100151668 ABBA01016805;AC004943;AMYH01007801;NG_007687;NG_013211 U7.71 pseudo 34167 INFERRED 2293225 RNU7-74P RNA, U7 small nuclear 74 pseudogene 4 4 4 p14 40821093 40821151 - 40379470 40379528 - 40379470 40379528 - 18267300;9847074 100151671 ABBA01014245;AC098869;AMYH01014126;NG_007690 U7.74 pseudo 34170 INFERRED 2293221 RNU7-78P RNA, U7 small nuclear 78 pseudogene 1 q25.1 174064280 174064535 - 18267300 100151675 AL121983;NG_007694 KIAA2025;U7.78 pseudo 34174 INFERRED 2293223 RNU7-76P RNA, U7 small nuclear 76 pseudogene 7 7 7 p12.3 46113876 46113932 - 46014880 46015136 - 46014981 46015037 - 18267300;9847074 100151673 AC073115;CH236958;NG_007692 U7.76 pseudo 34172 INFERRED 2293220 RNU7-79P RNA, U7 small nuclear 79 pseudogene 15 15 15 q25.3 62333029 62333082 - 85933061 85933114 - 85933061 85933114 - 18267300 100151676 ABBA01052962;AC104046;AMYH01006894;NG_007695 U7.79 pseudo 34175 INFERRED 2293219 RNU7-80P RNA, U7 small nuclear 80 pseudogene 1 1 1 p31.3 66528968 66529020 - 68238277 68238335 - 68238283 68238335 - 18267300 100151677 ABBA01074515;AL136120;AMYH01000692;NG_007696 U7.80 pseudo 34176 INFERRED 2293218 RNU7-81P RNA, U7 small nuclear 81 pseudogene 2 2 2 p16.1 54917973 54918032 + 55077427 55077486 + 55077427 55077486 + 18267300 100151678 ABBA01075257;AC013414;AMYH01010361;NG_007697 U7.81 pseudo 34177 INFERRED 2293217 RNU7-82P RNA, U7 small nuclear 82 pseudogene 3 3 3 q26.1 161588387 161588446 - 163187994 163188053 - 163187994 163188053 - 18267300 100151679 ABBA01058771;AC079910;AMYH01013619;NG_007698 U7.82 pseudo 34178 INFERRED 2293215 RNU7-84P RNA, U7 small nuclear 84 pseudogene 8 8 8 q23.1 103928991 103929052 - 107741923 107742184 - 107742024 107742085 - 18267300 100151681 ABBA01037690;AC090579;AMYH01018952;NG_007700 U7.84 pseudo 34180 INFERRED 1353502 RNU7-86P RNA, U7 small nuclear 86 pseudogene X q24 119522535 119522584 - 2249787 6073 AC002476;M35538;NG_001189 HSU7.7/32B;RNU7P2;U7 RNA, small nuclear U7 pseudogene 2;rna, u7 small nuclear pseudogene 2 pseudo 10237 INFERRED 2293214 RNU7-85P RNA, U7 small nuclear 85 pseudogene 8 8 8 q21.13 76716647 76716705 - 80712371 80712429 - 80712371 80712429 - 18267300 100151682 ABBA01004074;AC016240;AMYH01018818;NG_007701 U7.85 pseudo 34181 INFERRED 2293216 RNU7-83P RNA, U7 small nuclear 83 pseudogene 7 7 7 q31.1 102724750 102724809 + 107911445 107911504 + 107911445 107911504 + 18267300;12853948 100151680 AC007567;CH236947;NG_007699 U7.83 pseudo 34179 INFERRED 6481484 RNU7-87P RNA, U7 small nuclear 87 pseudogene 13 67204847 67204908 - 100873842 ABBA01050281;AL136999;AMYH01005184;NG_032622 pseudo 42616 INFERRED 6481488 RNU7-88P RNA, U7 small nuclear 88 pseudogene 13 60054204 60054266 + 100873843 ABBA01036995;AL356241;NG_032623 pseudo 42617 INFERRED 2293291 RNU7-8P RNA, U7 small nuclear 8 pseudogene 1 p31.1 77886011 77886069 + 18267300 100147756 ABBA01074401;AC093575;AMYH01000720;NG_007595 RNU7-139P;U7.8 pseudo 34104 INFERRED 6481490 RNU7-89P RNA, U7 small nuclear 89 pseudogene 13 73742226 73742287 - 100873844 ABBA01050345;AL158191;AMYH01005205;NG_032624 pseudo 42618 INFERRED 2293290 RNU7-9P RNA, U7 small nuclear 9 pseudogene 2 2 q36.3 224246438 224246498 + 230470955 230471015 + 18267300 100147757 ABBA01050146;AC007559;AMYH01011545;NG_007596 U7.9 pseudo 34105 INFERRED 7244107 RNVU1-2 RNA, variant U1 small nuclear 2 23070852 101447998 JQ988795 RNU1-71;vU1.2 snrna 48308 7244040 RNVU1-13 RNA, variant U1 small nuclear 13 23070852 101447997 JQ988807 RNU1-147;vU1.13 snrna 48318 1344372 RNU86 RNA, U86 small nucleolar Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23514963 23515017 - 38042793 38042847 - 39712847 39712901 - 10684968 116936 ABBA01055560;AJ238852;AL022326;AMYH01012776;NR_000026 1747523 G65386 U82;U86 APPROVED snorna 611069 PROVISIONAL 1352429 RNY1 RNA, Ro-associated Y1 Y RNAs are small noncoding RNAs that were originally identified as the RNA component of soluble ribonucleoproteins (RNPs) termed Ro RNPs. Ro RNPs are detected by autoimmune sera of patients suffering from rheumatic diseases, such as from systemic lupus erythematosus (MIM 152700) and Sjogren syndrome (MIM 270200). Ro RNPs consist of a Y RNA that is associated with the autoimmune antigen proteins Ro60 (TROVE2; MIM 600063) and La (SSB; MIM 109090), as well as other proteins. Four human Y RNAs have been identified: Y1, Y3 (RNY3; MIM 601822), Y4 (RNY4; MIM 601823), and Y5 (RNY5; MIM 601824). (Y2 is a truncated form of Y1.) Y RNAs are transcribed by RNA polymerase III and range in size from 83 to 112 nucleotides. They appear to have a functional role in chromosomal DNA replication (Christov et al., 2006 [PubMed 16943439]).[supplied by OMIM, Apr 2009] 7 7 7 q36 143355070 143355182 - 148684228 148684340 - 148684228 148684340 - 6480464 16943439;8836182;6187471 6084 AACC02000041;ABBA01033605;AC093743;AMYH01018116;NR_004391;V00584 HY1;Y1 rna, y1 small cytoplasmic (associated with ro protein) APPROVED ncrna ENSG00000201098 10242 601821 PROVISIONAL 7244038 RNVU1-8 RNA, variant U1 small nuclear 8 23070852 101447996 JQ988802 RNU1-145;vU1.8 snrna 48315 1351616 RNU7P3 RNA, small nuclear U7 pseudogene 3 16 p12.1 24318879 24318939 - 18267300;10493829;2249787 6074 AC004125;M35539;NG_001190;NG_007611 HSU7.24;RNU7-24P;U7 rna, u7 small nuclear pseudogene 3 pseudo 10238 2293292 RNU7-7P RNA, U7 small nuclear 7 pseudogene X X p11.4 42605111 42605168 + 38467471 38467528 + 18267300 100147755 ABBA01047006;AF241726;AMYH01022214;NG_007594 U7.7 pseudo 34103 INFERRED 5688416 RNY1P2 RNA, Ro-associated Y1 pseudogene 2 13 q33.1 102669303 102669419 - 100862666 ABBA01027078;AL512629;AMYH01005340;NG_008317;NG_032097 pseudo 42479 VALIDATED 6481566 RNY1P1 RNA, Ro-associated Y1 pseudogene 1 100873802 AL137059;NG_032587 pseudo 42478 INFERRED 6481568 RNY1P6 RNA, Ro-associated Y1 pseudogene 6 13 52160560 52160668 - 100873805 ABBA01051050;AL139183;AMYH01005116;NG_032590 pseudo 42483 INFERRED 6481565 RNY1P3 RNA, Ro-associated Y1 pseudogene 3 13 26524842 26524959 - 100873803 ABBA01007911;AL138815;AMYH01004980;NG_032588 pseudo 42480 INFERRED 5688418 RNY1P5 RNA, Ro-associated Y1 pseudogene 5 13 q22.1 74863237 74863351 - 100862667 ABBA01050358;AL353660;AMYH01005209;NG_032098 pseudo 42482 INFERRED 6481567 RNY1P4 RNA, Ro-associated Y1 pseudogene 4 100873804 AL138820;NG_032589 pseudo 42481 INFERRED 6481569 RNY1P7 RNA, Ro-associated Y1 pseudogene 7 100873806 AL157364;NG_032591 pseudo 42484 INFERRED 6481571 RNY1P8 RNA, Ro-associated Y1 pseudogene 8 13 73801284 73801397 + 100873807 ABBA01050346;AL162376;AMYH01005206;NG_032592 pseudo 42485 INFERRED 5688419 RNY3P3 RNA, Ro-associated Y3 pseudogene 3 q22.3 100862669 AL391989;NG_032100 pseudo 42487 INFERRED 1347190 RNY3 RNA, Ro-associated Y3 7 7 7 q36 143351693 143351794 + 148680847 148680948 + 148680847 148680948 + 6480464 8836182;6187471;17470436 6085 AACC02000041;ABBA01033605;AC093743;AMYH01018116;NR_004392;V00585 2177387 HY3 HY3;Y3 rna, y3 small cytoplasmic (associated with ro protein) ncrna ENSG00000202354 10243 601822 PROVISIONAL 6481461 RNY3P10 RNA, Ro-associated Y3 pseudogene 10 13 70377072 70377173 + 100873820 ABBA01050309;AL356384;AMYH01005193;NG_032600 pseudo 42494 INFERRED 5688414 RNY3P2 RNA, Ro-associated Y3 pseudogene 2 13 q14.2 49669528 49669625 + 100862668 ABBA01051015;AL137000;NG_032099 KIAA0970 pseudo 42486 INFERRED 6481575 RNY3P4 RNA, Ro-associated Y3 pseudogene 4 100873808 AL356287;NG_032593 pseudo 42488 INFERRED 6481573 RNY3P5 RNA, Ro-associated Y3 pseudogene 5 100873809 AL627344;NG_032594 pseudo 42489 INFERRED 6481572 RNY3P6 RNA, Ro-associated Y3 pseudogene 6 13 100188573 100188650 - 100873810 ABBA01027118;AL139035;AMYH01005326;NG_032595 pseudo 42490 INFERRED 5688423 RNY3P7 RNA, Ro-associated Y3 pseudogene 7 13 q22.3 78197507 78197607 + 100862670 ABBA01021664;AL137140;AMYH01005223;NG_032101 pseudo 42491 INFERRED 5688422 RNY3P9 RNA, Ro-associated Y3 pseudogene 9 q14.11 100862672 AL445143;NG_032102 pseudo 42493 INFERRED 2881096 RNY4P10 RNA, Ro-associated Y4 pseudogene 10 6 6 p21.3 34721744 34721835 + 33167378 33167469 + 100379592 ABBA01038138;AL645940;AL662824;AL844527;AMYH01016242;CR354565;CR759733;CR936877;NG_016642 pseudo 34060 INFERRED 2946881 RNY4P11 RNA, Ro-associated Y4 pseudogene 11 20 20 p11.23 18383723 18383816 + 18309653 18309746 + 100379288 AL049646;NG_016612 pseudo 34061 INFERRED 1342917 RNY4P1 RNA, Ro-associated Y4 pseudogene 1 9 9 q21.13 48036439 48036532 + 77462422 77462515 + 1378808 6087 ABBA01033886;AL354795;AMYH01021416;M77131;NG_005036;NG_017036 hY4.B8 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 1 pseudo 10245 INFERRED 2881095 RNY4P14 RNA, Ro-associated Y4 pseudogene 14 13 13 q13.3 21412271 21412362 - 40359556 40359647 - 100379584 ABBA01021305;AL596306;AMYH01005050;NG_016641;NG_028352 KIAA1134 pseudo 34064 INFERRED 3102666 RNY4P16 RNA, Ro-associated Y4 pseudogene 16 1 1 q42.11 208243988 208244055 + 234973720 234973817 + 100431173 ABBA01033108;AL360294;AMYH01001838;NG_021236 pseudo 34066 INFERRED 2946878 RNY4P15 RNA, Ro-associated Y4 pseudogene 15 2 2 88256950 88257042 + 88529091 88529183 - 100379291 AC092836;NG_016613 pseudo 34065 INFERRED 2946875 RNY4P18 RNA, Ro-associated Y4 pseudogene 18 9 9 q31.3 84358836 84358922 - 113859607 113859693 - 100379298 ABBA01042738;AC007157;AMYH01021639;NG_016630 pseudo 34068 INFERRED 2881127 RNY4P17 RNA, Ro-associated Y4 pseudogene 17 4 4 q32.3 167257736 167257830 + 169926400 169926494 + 9847074 100379564 ABBA01070335;AC021151;AMYH01014699;NG_016640 pseudo 34067 INFERRED 2293805 RNY4P19 RNA, Ro-associated Y4 pseudogene 19 2 2 q36.3 224698872 224698965 - 230922947 230923040 - 100169834 ABBA01050131;AC093171;AMYH01011549;NG_007997 pseudo 34069 INFERRED 1347955 RNY4P2 RNA, Ro-associated Y4 pseudogene 2 17 17 17 q21.31 37741008 37741100 - 38338393 38338485 - 41084867 41084959 - 1378808 6088 ABBA01006402;AC055866;AMYH01008398;M77130;NG_005037 hY4.B7 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 2 pseudo 10246 INFERRED 6481563 RNY4P22 RNA, Ro-associated Y4 pseudogene 22 3 20234274 20234366 - 100873800 ABBA01025086;AC098972;AMYH01013015;NG_032585 pseudo 42472 INFERRED 2922708 RNY4P20 RNA, Ro-associated Y4 pseudogene 20 6 6 q25.1 152353872 152353963 - 151619977 151620068 - 100379378 ABBA01025646;AL033392;AMYH01016745;NG_016636;NG_029875 pseudo 34070 INFERRED 6481564 RNY4P23 RNA, Ro-associated Y4 pseudogene 23 100873801 AL139398;NG_032586 pseudo 42473 INFERRED 2946879 RNY4P13 RNA, Ro-associated Y4 pseudogene 13 17 17 q11.2 25246441 25246534 - 28386072 28386165 - 100379296 ABBA01015005;AC104996;AMYH01008298;NG_016628 pseudo 34063 INFERRED 5688415 RNY4P21 RNA, Ro-associated Y4 pseudogene 21 14 q24.3 74558116 74558188 - 9847074 100862663 ABBA01030732;AC005484;AMYH01005851;NG_032094 pseudo 42471 INFERRED 5688413 RNY4P24 RNA, Ro-associated Y4 pseudogene 24 13 q14.3 52974139 52974231 + 100862664 ABBA01006539;AL359513;NG_032095 FLJ10749 pseudo 42474 INFERRED 5688417 RNY4P25 RNA, Ro-associated Y4 pseudogene 25 1 q21.3 151411478 151411569 + 100862665 ABBA01049394;AL589764;AMYH01001387;NG_032096 pseudo 42475 INFERRED 2922830 RNY4P12 RNA, Ro-associated Y4 pseudogene 12 11 11 q23.3 116022720 116022812 + 118865270 118865362 + 100379329 AP003392;NG_016633 pseudo 34062 INFERRED 6481462 RNY4P26 RNA, Ro-associated Y4 pseudogene 26 10 95806795 95806882 - 100873819 ABBA01021862;AL365510;AMYH01002964;NG_032599 pseudo 42476 INFERRED 6481464 RNY4P27 RNA, Ro-associated Y4 pseudogene 27 100873821 AL356257;NG_032601 pseudo 42495 INFERRED 6481468 RNY4P28 RNA, Ro-associated Y4 pseudogene 28 13 60761872 60761964 - 100873822 ABBA01050209;AL356502;AMYH01005155;NG_032602 pseudo 42496 INFERRED 6481469 RNY4P29 RNA, Ro-associated Y4 pseudogene 29 100873823 AL162716;NG_032603 pseudo 42497 INFERRED 5688420 RNY4P30 RNA, Ro-associated Y4 pseudogene 30 q14.2 100862673 AL136123;NG_032103 pseudo 42498 INFERRED 1351444 RNY4P3 RNA, Ro-associated Y4 pseudogene 3 16 16 16 q12.1 34645550 34645642 + 48689676 48689768 + 50132175 50132267 + 1378808 6089 ABBA01000881;AC007610;AMYH01007657;M77132;NG_005038 hY4.F2 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 3 pseudo 10247 INFERRED 1350493 RNY4 RNA, Ro-associated Y4 7 7 7 q36 143331254 143331349 + 148660407 148660502 + 148660407 148660502 + 6480464 8836182;7520568;17470436 6086 AACC02000041;ABBA01033602;AC073140;AMYH01018115;L32608;NR_004393 2119515 HY4 HY4;Y4 rna, y4 small cytoplasmic (associated with ro protein) ncrna ENSG00000252316 10244 601823 PROVISIONAL 5688421 RNY4P31 RNA, Ro-associated Y4 pseudogene 31 q21.2 100862674 AL627344;NG_032104 pseudo 42499 INFERRED 2946876 RNY4P4 RNA, Ro-associated Y4 pseudogene 4 3 3 q22.3 134732556 134732658 + 136307051 136307153 + 100379297 ABBA01059118;AC128712;AMYH01013522;NG_016629 pseudo 34050 INFERRED 2946874 RNY4P5 RNA, Ro-associated Y4 pseudogene 5 8 8 q24.13 120246138 120246232 + 124056957 124057051 + 100379299 ABBA01037863;AC100873;AMYH01019003;NG_016631 pseudo 34052 INFERRED 2946877 RNY4P8 RNA, Ro-associated Y4 pseudogene 8 17 17 q21.2 35059617 35059711 + 38399475 38399569 + 100379295 ABBA01031836;AC068669;AMYH01008384;NG_032695 pseudo 34057 INFERRED 2859134 RNY5P1 RNA, Ro-associated Y5 pseudogene 1 1 1 p34.3 34167802 34167884 - 35893411 35893493 - 100379666 ABBA01023341;AL356362;AMYH01000490;NG_016725 1848480 HY5 pseudo 34082 INFERRED 2293802 RNY5P10 RNA, Ro-associated Y5 pseudogene 10 19 19 q13.12 33254225 33254300 + 36540048 36540123 + 100169837 ABBA01018777;AD000813;AMYH01009738;NG_008006 pseudo 34091 INFERRED 3322038 RNY5P2 RNA, Ro-associated Y5 pseudogene 2 2 2 q33.1 192163971 192164030 + 198408100 198408159 + 100381208 AC020550;NG_016767 pseudo 34083 INFERRED 2859129 RNY5P3 RNA, Ro-associated Y5 pseudogene 3 3 3 q26.2 168959704 168959778 - 170559887 170559961 - 100379664 ABBA01058671;AC117476;AMYH01013645;NG_016720 pseudo 34084 INFERRED 2859128 RNY5P5 RNA, Ro-associated Y5 pseudogene 5 6 6 p22.2 26419942 26420015 + 25192641 25192714 + 100379658 ABBA01066543;AL590084;AMYH01016158;NG_016705 pseudo 34086 INFERRED 3516304 RNY5P4 RNA, Ro-associated Y5 pseudogene 4 4 4 q28.2 128162448 128162528 - 130781575 130781655 - 9847074 100380271 ABBA01044837;AC079857;AMYH01014520;NG_016727 pseudo 34085 INFERRED 2293804 RNY5P7 RNA, Ro-associated Y5 pseudogene 7 10 10 q24.31 96663639 96663713 + 102925966 102926040 + 100169835 ABBA01063205;AL135794;AMYH01003004;NG_007998 pseudo 34088 INFERRED 2859127 RNY5P6 RNA, Ro-associated Y5 pseudogene 6 8 8 p11.21 41956645 41956720 + 43008119 43008194 + 100379663 ABBA01021187;AC113191;AMYH01018692;NG_016719 1676450 RH69425 pseudo 34087 INFERRED 3398732 RNY5P8 RNA, Ro-associated Y5 pseudogene 8 13 13 q33.1 84316828 84316895 + 103472349 103472416 + 100380878 ABBA01027069;AL157769;AMYH01005341;NG_016734 pseudo 34089 INFERRED 2946880 RNY4P6 RNA, Ro-associated Y4 pseudogene 6 11 11 q23.3 114044388 114044482 + 116886613 116886707 + 100379287 ABBA01039745;AMYH01004057;AP000936;NG_016611 1846428;2002796;2002798;2002800;2002802;2002804;2002806;2002808;2002810 ECD24434;REN72310;REN72311;REN72312;REN72313;REN72314;REN72315;REN72316;REN72317 pseudo 34055 INFERRED 2293815 RNY4P7 RNA, Ro-associated Y4 pseudogene 7 2 2 q14.3 121867413 121867505 - 128556480 128556572 - 100169850 ABBA01040196;AC006011;AMYH01011024;NG_008007 pseudo 34056 INFERRED 2293803 RNY5P9 RNA, Ro-associated Y5 pseudogene 9 16 16 q21 43263227 43263307 - 58762500 58762580 - 100169836 ABBA01025315;AC012183;AMYH01007718;NG_007999 pseudo 34090 INFERRED 2922957 RNY4P9 RNA, Ro-associated Y4 pseudogene 9 13 13 q14.3 31537501 31537594 - 50482773 50482866 - 100379300 AL136123;NG_016632 pseudo 34058 INFERRED 1345142 RNY5 RNA, Ro-associated Y5 7 7 7 q36 143309435 143309518 + 148269011 148269818 + 148638580 148638663 + 6480464 18056422;8836182;7520568 6090 AACC02000041;ABBA01033601;AC073140;AMYH01018115;NR_001571;U64824 1848480 HY5 Y5 rna, y5 small cytoplasmic (associated with ro protein) ncrna ENSG00000252310 10248 601824 PROVISIONAL 1316766 RNPS1 RNA binding protein S1, serine-rich domain This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008] 16 16 p13.3 2243122 2258115 - 2303100 2318413 - 6480464;6907045 14752011;16751776;9580558;11477570;17353931;12226669;19403727;17959926;17081983;16713569;16209946;16189514;15684395;15592455;15489334;15324660;15302935;21145461;22388736;14729963;14702039;14625303;14517304;12944400;12477932;12093754;11546874;11546873;11118221;10449421;9933612;8828041;8543184;11707413;20857263;16344560;16055720;16537548;20211142;23084401;20508642;12665594;22939629;21508110;19322201;21628590;17332742;21139048;21890473 10921 D3DU92;H3BMM9;H3BMS0;H3BNI3;H3BNU7;H3BP82;H3BPG5;H3BRK4;H3BTC0;H3BTR6;H3BTV0;H3BTY0;H3BUG0;H3BUL0;H3BV80;Q9NYG3 AB445101;ABBA01030267;AC009065;AF015608;AF247662;AF274003;AK021799;AK289955;AK293343;AK303100;AK316132;AL520572;AMYH01007057;BC001659;BC001838;BC108316;BG716139;CH471112;DA728900;DA732377;DA818573;DQ574166;L37368;L75926;L75927;NM_006711;NM_080594 AAA92859;AAC39791;AAF72519;AAH01659;AAH01838;AAI08317;AAL56665;ABM86440;ABW03795;BAF82644;BAG56859;BAG64209;BAH14503;BAI99736;EAW85516;EAW85517;EAW85518;EAW85519;EAW85520;EAW85521;EAW85522;NP_006702;NP_542161;Q15287 Hs.355643;Hs.507343;Hs.733012 1677480;1688588;2166525;2189115;5021872;5022578;5113900 D1S1423;G65141;RH69048;RH79853;SHGC-53120;SHGC-67834;sY3084 E5.1;MGC117332 OTTHUMP00000159047;RNA-binding protein S1, serine-rich domain;RNA-binding protein with serine-rich domain 1;SR protein;SR-related protein LDC2 APPROVED protein-coding ENSG00000205937 10080 07341 606447 REVIEWED 2837591 ROCK1P1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 18 18 p11.32 106621 111190 + 109065 122219 + 12477932;16344560;20398283 727758 ABBA01004204;ABBA01004205;AMYH01008766;AMYH01008767;AMYH01008768;AMYH01008769;AP001005;BC041849;DB095042;NR_033770 AAH41849 Hs.585843 1682978 RH65142 pseudo 37832 VALIDATED 1322248 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009] 11 11 q24.2 124240492 124256572 + 124735305 124751370 + 2316136;6480464;7240710 16262652 15824346;15105459;19041479;18829051;18270976;17671968;16525029;16226035;14702039;12477932;12177379;8125298;20298552;21187438;21510772;21592015;21850172;15174051;19953087;21890473 64221 F5GWJ5;F5H0K7;Q96MS0 ABBA01031250;AK024697;AK225076;AK291045;AK295475;AK298792;AMYH01004103;AP003501;AY509035;BC008623;BC086878;BC113744;CH471065;N80769;NG_016214;NM_022370 AAH08623;AAI48594;AAS91662;BAB14966;BAF83734;BAG58402;BAG60929;EAW67602;EAW67603;EAW67604;EAW67605;EAW67606;EAW67607;EAW67608;EAW67609;NP_071765;Q96MS0 Hs.435621 2136699 A004W01 FLJ21044;HGPPS;HGPS;RBIG1;RIG1 OTTHUMP00000231536;OTTHUMP00000236847;retinoblastoma inhibiting gene 1;roundabout homolog 3;roundabout-like protein 3 APPROVED protein-coding ENSG00000154134 13433 10554 607313;608630 REVIEWED 731503 ROCK2 Rho-associated, coiled-coil containing protein kinase 2 The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008] 2 2 p24 11239229 11402162 - 11321778 11484711 - 1580863;1642807;6480464;6907045 17316608 22939913;17353931;9933571;19422706;19205033;19181962;19131646;19099536;18971541;18922892;18695890;18668558;18496125;18495812;18331468;17596509;17446864;17344417;17167780;22798677;17081983;17012370;16996686;16964243;16585408;16531242;15699075;15302935;15044207;12600888;12482610;12477932;12185584;12176052;12126956;12102637;11931630;10601309;9734811;9463375;11350930;15797222;20951699;20504226;20961215;21084279;20232393;12220642;12563012;15121898;17137291;19435756;19590140;19997641;20056178;20164172;20181930;20346360;8617235;20429915;20939434;19913121;20628086;10209029;12778124;17015463;18559669;21147781;22863883;21303778;16574662;22942252;22093931;22232555;21139048;21906983;22318606;22348083;22842919;19322201;22155728;22001410;23211630;21963094;22462535;22505724;22241857;22273145;22705122;23326532;17572668;21423810;22262769 9475 C9JFJ0;D6REE7;E9PF63;O75116 AB014519;ABBA01015643;ABBA01015644;ABBA01015645;AC018463;AC099344;AK299296;AK310358;AMYH01010111;AMYH01010112;BC111801;BG539531;CD652480;CH471053;D87931;NG_029769;NM_004850 AAI11802;AAX93049;AAY14825;BAA31594;BAA75636;BAG61311;EAX00937;EAX00938;NP_004841;O75116 Hs.681743 1298126;1666958;1685227;1785972;1796716;2117146;2149195;5109362 D17S1239;D2S168;D2S1805;RH75524;ROCK2_815;SHGC-152111;SHGC-33406;WI-11377 KIAA0619;ROCK-II OTTHUMP00000195104;OTTHUMP00000200599;p164 ROCK-2;rho kinase 2;rho-associated coiled-coil forming kinase 2;rho-associated protein kinase 2;rho-associated, coiled-coil-containing protein kinase 2;rho-associated, coiled-coil-containing protein kinase II APPROVED protein-coding 10252 04922 604002 REVIEWED 733751 ROCK1 Rho-associated, coiled-coil containing protein kinase 1 This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. [provided by RefSeq, Jul 2008] 18 18 q11.1 16783699 16945810 - 18529701 18691812 - 1580863;2298875;1642807;6480464;6484113;6907045 11872041;17316608 16983089;19420982;19404162;19181962;19160018;19131646;19036714;19001122;18952846;18948190;18946488;18941185;18922892;18852895;18780293;18713748;18695890;18694941;18684864;18668558;18648664;18615591;18499753;18495812;18477564;18353901;18331468;18239683;18204440;18187541;18079197;17855350;17853893;17728102;17673200;17651694;17346310;17344417;17244674;17174923;17172270;17167780;17138966;17044646;17028776;17012370;16978606;16891369;16825579;10436159;12082081;16784244;16772336;16760434;16712513;16687572;16543245;16413470;16407310;16371346;16344560;16141422;15956119;15910744;15855233;15843433;15723050;15713824;15665056;15647781;15611088;15494373;15252450;15247219;15231748;15208091;15096506;15044207;14962675;14718574;14716844;14702039;14660612;14657354;14610060;14517206;12850840;12778124;12773565;12749591;12729902;12600888;12563012;12482610;12477932;12220642;12193698;12177195;12034773;11992112;11931630;11893932;11818523;11751986;11739394;11387207;11340065;11283607;11018042;10970850;10818093;10652353;10601309;10579722;10574968;10559936;10508479;10209029;9856983;9722579;9565595;9516463;9456324;9354661;9099667;8816443;8617235;7822264;2155236;2114109;12748184;15797222;15793569;16249185;8798490;22558309;22798677;19913121;20130732;23097497;20223287;20734064;21048031;20801872;20801873;20126978;16123592;16862148;17643375;18396681;19167712;19403695;19549780;19406912;19590140;19667069;19997641;20039424;20053635;20056178;20056645;20064505;20068229;20140017;20379197;20682776;20070312;21119662;21085597;20364104;20558775;21206971;21035804;21305317;22328514;23066013;22846914;22813839;21051874;21445309;21417762;21387396;22942252;21907926;21747168;23665024;22913419;22863883;23022380;19573309;21575520;22232555;21840487;21986457;21994419;21265091;21847509;22010828;22206673;17620599;22348083;21739156;21139048;21906983;21908715;22493320;22563075;22031287;22041269;22085929;22363817;22155728;23233531;22462535;22975682;23188716;23355470;23094262;23350987;22584506;23168335;23184937;17572668;21423810;22197032;22262769 6093 J3KRH6;Q13464 AB208965;ABBA01022697;ABBA01022698;ABBA01022699;ABBA01022700;ABBA01022701;ABBA01022702;AC022795;AC036178;AK057038;AK307388;AMYH01008874;AMYH01008875;AU121527;BC113114;CH471088;DQ786321;NM_005406;U43195 AAB02814;AAI13115;BAD92202;EAX01119;NP_005397;Q13464 Hs.306307 1665299;1679499;1682978;1718417;2111049;2135118;5017637 D18S374E;RH122410;RH65142;RH65143;RH78137;RH78771;ROCK1 MGC131603;MGC43611;P160ROCK;PRO0435;ROCK-I OTTHUMP00000162514;Rho kinase;p160 ROCK-1;p160-ROCK;renal carcinoma antigen NY-REN-35;rho-associated kinase beta;rho-associated protein kinase 1;rho-associated, coiled-coil-containing protein kinase 1;rho-associated, coiled-coil-containing protein kinase I APPROVED protein-coding ENSG00000067900 10251 03414 601702 REVIEWED 1345670 RONU Rowett nude 5492 10255 1345935 ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) 11 11 q24.2 124259324 124272950 - 124754114 124767831 - 1580863;6480464 14527427;15849270;15894287;18980679;18948384;18519813;18270976;17671968;17496152;17495228;16685377;16335952;15489334;14702039;12975309;12941633;12477932;11944987;11076864;20375003;19495426;19855388;21423011;22241990;21465248;14761960 54538 B4DYV8;Q8WZ75 ABBA01031250;AF361473;AK000805;AK025195;AK027852;AK074163;AK289769;AK297845;AK302628;AMYH01004103;AP003501;AY358083;BC014995;BC025675;BC039602;BC064643;BC111562;BC111748;CH471065;DC424813;NM_019055 AAH39602;AAH64643;AAI11563;AAI11749;AAL31867;AAQ88450;BAA91382;BAB15082;BAB55411;BAB84989;BAF82458;BAG60179;BAG63870;EAW67610;EAW67611;EAW67612;EAW67613;NP_061928;Q8WZ75 Hs.524121 1658961;2109767;2121172;7183985 D11S4610;ROBO4_9796;WI-20325 ECSM4;FLJ20798;MGC133352;MGC133353;MRB OTTHUMP00000231537;OTTHUMP00000231538;roundabout homolog 4;roundabout homolog 4, magic roundabout APPROVED protein-coding ENSG00000154133 17985 09604 607528 VALIDATED 736256 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) This gene belongs to the ROBO family, part of the immunoglobulin superfamily proteins that are highly conserved from fly to human. The encoded protein is a receptor for SLIT2, molecules known to function in axon guidance and cell migration. Defects in this gene are the cause of vesicoureteral reflux type 2. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 3 3 p12.3 77171984 77779351 + 75955845 77699115 + 61733;1580863;2316136;6480464;7240710 9458045;16262652 12504588;10197527;15130495;19350278;19240061;19023125;18270976;18235093;17357069;16829019;12477932;15489334;10997877;10102268;16169070;22675492;11748139;11754167;15207848;16713569;18464913;18566128;19959718;20029409;20201926;20345837;20379614;22719878;23568457;20467438;21150319;21900206;23319000;23382691;23525682 6092 F8W703;F8WBR3;H7C4J7;H7C4U9;H7C4V8;H7C4W9;Q9HCK4;R4GMM8 AB046788;ABBA01030995;ABBA01030996;ABBA01030997;ABBA01030998;ABBA01030999;ABBA01031000;ABBA01031001;ABBA01031002;ABBA01031003;ABBA01031004;ABBA01031005;ABBA01031006;ABBA01031007;ABBA01031008;ABBA01031009;ABBA01031010;ABBA01031011;ABBA01031012;AC016942;AC016952;AC024256;AC026877;AC067717;AC117514;AC117515;AC117516;AC126467;AC130004;AC131005;AC131154;AC133040;AC138974;AF040991;AK074780;AK301176;AMYH01013292;AMYH01013293;AMYH01013294;AMYH01013295;AMYH01013296;AMYH01013297;BC064374;BC144302;BC144303;BC144306;BC146772;BX648828;CH471110;DQ533873;DQ533874;NG_027734;NM_001128929;NM_002942 AAC39576;AAH64374;AAI46773;ABF83430;ABF83431;BAB13394;BAC11205;BAG62763;EAW68889;NP_001122401;NP_002933;Q9HCK4 Hs.13305 1335917;1649481;1655369;1655531;1664169;1674049;1690155;1701494;1703676;1706470;1707054;1709778;1709822;1711142;1712879;1714997;1716647;1717797;1719029;1720121;1720463;1721007;1721085;1723825;1723917;1727025;1727709;1727711;1730511;1731914;1733884;1733886;1733910;1733912;1733914;1733916;1733918;1733920;1733922;1739301;1750173;1750531;1751325;1757191;1761407;1761917;1764807;1765259;1765533;1766969;1773679;1777630;1784614;1784752;1797176;1852313;1853694;1856539;2112724;2119750;2121390;2122385;2123510;2132384;2134927;2139308;2144174;2157222;2158616;2160085;2169207;2187603;5092948 A009C42;ATC-P7546;D3S1747;D3S2484;D3S2515;D3S2517;D3S2533;D3S2534;D3S2536;D3S2537;D3S2538;D3S2539;D3S2540;D3S3289E;D3S3365;D3S3392;D3S3653;D3S4157;D3S4454;D3S4533;D3S769;G16647;G19155;G32429;G59185;G59485;G59525;G62910;G63118;G63119;HSC2MC092;RH104380;RH118648;RH118691;RH120835;RH121074;RH121580;RH121809;RH123221;RH123802;RH70334;RH71142;RH80480;ROBO2;SHGC-105189;SHGC-111835;SHGC-112056;SHGC-112264;SHGC-144609;SHGC-145417;SHGC-145851;SHGC-148375;SHGC-148764;SHGC-149006;SHGC-152513;SHGC-154474;SHGC-34465;SHGC-77102;SHGC-77113;SHGC-77120;SHGC-78827;SHGC-81121;SHGC-81280;SHGC-84705;SHGC-84730;SHGC-85303;STS-N33966;STS-Z41295;WI-11153;WI-11200;WI-14397;Z94483;Z94676 KIAA1568;SAX3 OTTHUMP00000213687;OTTHUMP00000213701;OTTHUMP00000213702;roundabout (axon guidance receptor, drosophila) homolog 2;roundabout homolog 2 APPROVED protein-coding ENSG00000185008 10250 602431;610878 REVIEWED 1319640 ROPN1L rhophilin associated tail protein 1-like This gene encodes a member of the ropporin family. The encoded protein is a sperm protein. It interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Type II regulatory subunit of cAMP-dependent protein kinase (PKARII) also binds to this helix domain of AKAP3, which allows PKARII to be targeted to specific subcellular compartments. It is suggested that sperm contains several proteins that bind to AKAPs in a manner similar to PKARII, and this encoded protein may be one of them. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2011] 5 5 5 p15.2 10480140 10503231 + 10495015 10518138 + 10441974 10465138 + 737633;6480464 12477932 11278869;15489335;18421703;21424380;21832049;22446040 83853 Q96C74;Q9H5V2 ABBA01020601;AC092336;AF239723;AK026656;AK098642;AMYH01014904;BC014607;BX113042;CH471102;CV024170;DB479784;NM_001201466;NM_031916 AAG59587;AAH14607;ADZ15816;BAB15517;EAX08063;EAX08064;NP_001188395;NP_114122;Q96C74 Hs.381089 1648889;1670421;1709946;2149394 D5S1654E;SGC31357;SHGC-82239;WIAF-1507 ASP;FLJ23003;FLJ25776;RSPH11 AKAP-associated sperm protein;OTTHUMP00000115590;OTTHUMP00000221153;ROPN1-like protein;radial spoke head 11 homolog;ropporin 1-like;ropporin-1-like protein APPROVED protein-coding ENSG00000145491 24060 17986 611756 REVIEWED 5131405 ROPN1L-AS1 ROPN1L antisense RNA 1 5 5 p15.2 10479221 10480035 - 10441090 10441963 - 11329013 100505845 AA393211;ABBA01020601;AC092336;AMYH01014904;BG197480;HY043091;HY045761;HY238903;NR_102746;XR_158784;XR_159439;XR_171486 Hs.599395 APPROVED miscrna 39984 VALIDATED 735617 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 3 3 p12 78729080 79721751 - 78646388 79817059 - 2314868;2316136;6480464 15264215;16262652 9458045;12504588;9608531;19104841;19023125;18948384;18464913;18387595;18270976;17968499;17848514;17671369;17671114;17081983;17062560;16740745;16685377;16641997;16636676;16254601;15489334;15342556;14702039;12892710;12477932;12471613;12082532;11672528;10892742;20438712;20471383;10433822;10102268;9796701;16169070;21385904;20816195;11748139;15207848;18566128;18829537;19351956;19706539;20029409;20068157;20071679;20298689;20300657;20379614;20949370;21041608;20936779;22719878;19684588;21686327;21060114;22939629;21283129;21857494;21139048;21890473;22262894;21998696;21465248;21875486;23000965;23119100;22826604;22898079 6091 F8WEV8;H7C4Y7;H7C545;Q1RMC8;Q9Y6N7 ABBA01031021;ABBA01031022;ABBA01031023;ABBA01031024;ABBA01031025;ABBA01031026;ABBA01031027;ABBA01031028;ABBA01031029;ABBA01031030;ABBA01031031;ABBA01031032;ABBA01031033;ABBA01031034;AC016946;AC055731;AC106718;AC106720;AC108719;AC117461;AC117479;AC119035;AC123565;AC125624;AC125766;AC125815;AC131008;AF040990;AK025535;AK095256;AK297481;AK299920;AMYH01013301;AMYH01013302;BC001969;BC029676;BC112336;BC115020;BC115022;BC157861;BC171855;BP228659;BX538319;CH471110;DR003097;NG_011729;NM_001145845;NM_002941;NM_133631;Z95705 AAC39575;AAH01969;AAI12337;AAI15021;AAI15023;AAI57862;AAI71855;BAG59902;BAH13173;CAD98093;EAW68884;EAW68885;EAW68886;EAW68887;EAW68888;NP_001139317;NP_002932;NP_598334;Q9Y6N7 Hs.744218 1298196;1336274;1336837;1340379;1651468;1654523;1664730;1664798;1708094;1711024;1713053;1714383;1714703;1715131;1720559;1727589;1729483;1731685;1733852;1733854;1733856;1733860;1733862;1733864;1733868;1733872;1733874;1733876;1733878;1733880;1733882;1733944;1735196;1739745;1748917;1748951;1749053;1749683;1749691;1750191;1762137;1764901;1776486;1779912;1780246;1784610;1784886;1851624;2112720;2113212;2119217;2121098;2129567;2140907;2151131;2154089;2165540;2171466;2173529;2180569;5015961;5493883;5494116;7187072;7187075 D11S3972;D15S1477;D3S1274;D3S1604;D3S1669;D3S2498;D3S2499;D3S2500;D3S2503;D3S2504;D3S2505;D3S2507;D3S2509;D3S2510;D3S2511;D3S2512;D3S2513;D3S2514;D3S2552;D3S2840E;D3S2975;D3S3;D3S3049;D3S3073;D3S3474E;D3S3681;D3S3962;D3S4451;D3S4492;G19159;G35125;G59233;G63203;RH119517;RH120016;RH120182;RH120311;RH16327;RH44887;RH45408;RH47423;SHGC-10600;SHGC-110573;SHGC-110600;SHGC-110680;SHGC-111359;SHGC-111365;SHGC-112052;SHGC-112294;SHGC-146035;SHGC-148459;SHGC-154157;SHGC-154706;SHGC-35070;SHGC-35216;SHGC-70139;SHGC-77115;SHGC-77117;SHGC-77118;SHGC-81445;SHGC-84894;UniSTS:498508;fi28b09.x1 DUTT1;FLJ21882;MGC131599;MGC133277;SAX3 OTTHUMP00000213706;OTTHUMP00000213707;OTTHUMP00000213708;deleted in U twenty twenty;roundabout homolog 1;roundabout homolog 1 (drosophila) APPROVED protein-coding ENSG00000169855 10249 03890 602430 REVIEWED 1603007 ROGDI rogdi homolog (Drosophila) This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 16 16 16 p13.3 5055739 5061444 - 4786970 4792675 - 4846963 4852951 - 6480464 11256614;16381901;16169070;15489336;14702039;12477932;11230166;11076863;17043677;22424600;22482807;23086778 79641 K7EID1;K7EJ96;K7EL91;K7EMJ5;K7EPN1;K7EPS3;K7ERN3;K7ERP1;Q9GZN7 AA740842;ABBA01026787;AC020663;AK026039;AK054707;AK098348;AL136675;AMYH01007107;AMYH01007108;BC012901;CH471112;CR457355;CR533547;NG_032174;NM_024589;NR_046480 AAH12901;BAB15331;BAG51413;CAB66610;CAG33636;CAG38578;CAL38033;EAW85258;EAW85259;EAW85260;EAW85261;NP_078865;Q9GZN7 Hs.459795 1648676;1680673;1682403;2137535 RH44934;RH70097;SHGC-60805;SHGC-61126 FLJ22386;KTZS OTTHUMP00000159854;leucine zipper domain protein;protein rogdi homolog APPROVED protein-coding ENSG00000067836 29478 13388 226750;614574 REVIEWED 1344223 ROPN1 rhophilin associated tail protein 1 3 3 3 q21.1 122095418 122117739 - 125170568 125192889 - 123687878 123710199 - 1580863;6480464 17551920;12477932;11278869;10591629;20107840;20705794;21240291;21654522;22021175 54763 C9J012;C9J6H4;C9JP07;Q9HAT0 ABBA01016447;AC117381;AF303889;AL133624;AMYH01013435;BC132744;BC132746;CH471052;HC007266;NM_017578 AAG27712;AAI32745;AAI32747;ADR82868;CAB63750;CBH19438;EAW79425;EAW79426;EAW79427;NP_060048;Q9HAT0 Hs.567516;Hs.733553 1341702;1701014 D3S3558;RH104134 CT91;DKFZp434B1222;ODF6;RHPNAP1;ROPN1A;ropporin OTTHUMP00000215807;cancer/testis antigen 91;outer dense fiber of sperm tails 6;rhophilin-associated protein 1A;ropporin, rhophilin associated protein 1;ropporin-1A APPROVED protein-coding 17692 15269 611757 PROVISIONAL 1603561 ROPN1B rhophilin associated tail protein 1B 3 3 3 q21.2 124116016 124125916 + 127170718 127184987 + 125688028 125702297 + 11278869;12477932;10591629 152015 D6RA85;D6RAA3;D6RCR2;Q9BZX4 ABBA01016400;AC092903;AF231410;AMYH01013447;BC015413;BC141849;CH471052;HC007268;HC044759;NM_001012337 AAG59586;AAH15413;AAI40023;AAI41850;CBH19439;CBH30709;EAW79382;EAW79383;NP_001012337;Q9BZX4 Hs.663128 1701014 RH104134 AKAP-binding sperm protein ropporin;OTTHUMP00000222445;OTTHUMP00000222455;rhophilin-associated protein 1B;ropporin, rhophilin associated protein 1B;ropporin-1B APPROVED protein-coding ENSG00000114547 31927 17985 PROVISIONAL 1349152 ROMO1 reactive oxygen species modulator 1 20 20 q11.22 33750646 33752316 + 34287232 34288902 + 6480464 18836179;18313394;16842742;19535734;17537404;15489334;15342556;12477932;11780052;20203691;20736409;19513905;19904609;20877624;21558421;21399876;22083756 140823 P60602 ABBA01019151;AK000548;AL357374;AM397244;AM397245;AM397246;AMYH01011875;BC008488;BC105281;BM353595;CH471077;GU727625;NG_033237;NM_080748 AAH08488;AAI05282;ADU87627;ADZ15662;CAL37002;CAL37003;CAL37004;EAW76168;EAW76169;NP_542786;P60602 Hs.472564 1777710;1799896;1808930;1821176;1822504;1975738;1975740;1975742;1975744;1975746;1975748;1975750;1975752;1975754;1975756;1975758;1975760;1975762;1975764;1975766;1975768;1975770;2121620;2215616;2215618;2215620 ECD00802;ECD05448;ECD11665;ECD12340;REN58757;REN58758;REN58759;REN58760;REN58761;REN58762;REN58763;REN58764;REN58765;REN58766;REN58767;REN58768;REN58769;REN58770;REN58771;REN58772;REN58773;RH41786;STS-D45601;stSG636803;stSG636804;stSG636805 C20orf52;MGC111180;MTGM;MTGMP;bA353C18.2 OTTHUMP00000030797;OTTHUMP00000062052;OTTHUMP00000062053;OTTHUMP00000196684;ROS modulator 1;epididymis tissue protein Li 175;glyrichin;mitochondrial targeting GXXXG protein;mitochondrial targeting GxxxG motif protein;protein MGR2 homolog;reactive oxygen species modulator 1 protein-coding ENSG00000125995 16185 12774 VALIDATED 1352147 ROR1 receptor tyrosine kinase-like orphan receptor 1 This gene encodes a receptor tyrosine kinase-like orphan receptor that modulates neurite growth in the central nervous system. The encoded protein is a glycosylated type I membrane protein that belongs to the ROR subfamily of cell surface receptors. It is a pseudokinase that lacks catalytic activity and may interact with the non-canonical Wnt signalling pathway. This gene is highly expressed during early embryonic development but expressed at very low levels in adult tissues. Increased expression of this gene is associated with B-cell chronic lymphocytic leukaemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2012] 1 1 p32-p31 64012278 64417295 + 64239690 64647181 + 1580863;6480464 8875995;1334494;18604725;18546292;18354269;18287027;18223214;16710414;15654020;12477932;11713269;22403610;9143508;21079657;19488044;20379614;20702778;19913121;20628086;20634891;20686606;21832049;23153538;21487037;20597086;23000965;23041612;23285131;21698301;21531460;21813176;21139048;21481194;22199287;22369092 4919 A2VCQ3;Q01973 ABBA01074564;ABBA01074565;ABBA01074566;AK000776;AK308088;AK309189;AL137859;AL138793;AL161742;AL353713;AL359769;AL445205;AL808029;AL808030;AMYH01000677;BC006374;BC080541;BC128386;CH471059;M97675;NG_032801;NM_001083592;NM_005012 AAA60275;AAH80541;AAI28387;AAI56512;AAI72555;EAX06555;EAX06556;EAX06557;NP_001077061;NP_005003;Q01973 Hs.128753 1338611;1338807;1341142;1644546;1674508;1692536;1695264;1709632;1713639;1727997;1729598;1745769;1751369;1751889;1754693;1854680;2107555;2128000;2129287;2157080;2173331;2179866;7187924 AL009342;AL033920;D19S51;D1S2617;D1S2684;D1S3254;D1S3467;D1S515;G16064;G34865;G63269;GDB:636104;RH120700;RH47810;ROR1__6895;SHGC-105230;SHGC-105854;SHGC-133047;SHGC-33176;SHGC-62979;SHGC-74930;SHGC-85179 MGC99659;NTRKR1;dJ537F10.1 OTTHUMP00000010573;OTTHUMP00000010574;neurotrophic tyrosine kinase receptor-related 1;neurotrophic tyrosine kinase, receptor-related 1;tyrosine-protein kinase transmembrane receptor ROR1 APPROVED protein-coding ENSG00000185483 10256 03821 602336 REVIEWED 1346819 RP spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit 6099 10262 1314474 ROM1 retinal outer segment membrane protein 1 This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008] 11 11 q13 62137199 62139164 + 62380213 62382592 + 1580863;6480464;7240710 17286855;1610568;16554811;15489334;12477932;11641407;11559856;8938448;8889548;8595413;8504299;8202715;7904211;1415249;1302019;10681511;9331261;17207965;20801516;20335603;20301590 6094 E9PKF5;E9PMR7;E9PS24;Q03395 ABBA01003230;AK313674;AMYH01003690;AP001458;BC008100;BC036268;BU731899;CH471076;DC335199;DQ426890;L07894;M96759;NG_009845;NM_000327 AAA60272;AAA60274;AAH08100;ADQ32765;BAG36425;EAW74041;NP_000318;Q03395 Hs.281564 1773244;2109769;2128657;2157835 ROM1;ROM1_8597;STS-L07894;WI-9219 ROM;ROSP1;RP7;TSPAN23 OTTHUMP00000236110;rod outer segment membrane protein 1;tetraspanin-23;tspan-23 APPROVED protein-coding ENSG00000149489 10254 01616 180721;608133 REVIEWED 1354228 RP10 retinitis pigmentosa 10 (autosomal dominant) 7240710 8513324 6105 10264 180105;613837 1352623 RP17 retinitis pigmentosa 17 (autosomal dominant) 7240710 7581389 6111 10271 600852 1313207 ROR2 receptor tyrosine kinase-like orphan receptor 2 The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008] 9 9 q22 93524705 93752265 - 94484878 94712444 - 1580863;6480464;6484113;7240710 1334494;19135982;18831060;18703641;18615587;18365018;18215320;17996904;17717073;17668388;17665217;17619808;17101003;17095577;15654020;15388793;15164053;14752058;12919145;12839624;12815588;12754255;12477932;12011143;11062486;10986040;10932187;10700182;9973296;10932186;19448672;19453261;19461659;19486338;19533773;19561643;19640924;19724895;19802008;19851296;20185829;20198315;20591152;20098747;20634891;21342370;21069266;21377971;21693067;22178368;21139048;21890473;22128168;22490406;22688191;20301418;22294416;22493546;22293903;22057548;22992069;23469623;22781592;22939624;18762249 4920 B1APY4;Q01974 AA463746;AA626834;AB209154;ABBA01018577;ABBA01018578;ABBA01018579;AF254747;AF254748;AF254749;AF254750;AF254751;AF254752;AF254753;AF279755;AF279756;AF279757;AF279758;AF279759;AF279760;AF279761;AL391219;AL583841;AL928802;AMYH01021507;AMYH01021508;BC033697;BC051273;BC126454;BC130522;BI089313;BQ446244;CH471089;M97639;NG_008089;NM_004560 AAA60276;AAI30523;BAD92391;EAW62798;EAW62799;EAW62800;EAW62801;EAW62802;NP_004551;Q01974 Hs.644776;Hs.98255 1660390;1668250;1688728;1728757;1728787;1728823;1765229;1766609;1791548;1791550;2219644 D9S2051;G54475;G54476;G54539;PMC114715P2;PMC114715P3;RH66768;RH92164;ROR2__5517;SHGC-148721;SHGC-149914 BDB;BDB1;MGC163394;NTRKR2 OTTHUMP00000021634;neurotrophic tyrosine kinase receptor-related 2;neurotrophic tyrosine kinase, receptor-related 2;tyrosine-protein kinase transmembrane receptor ROR2 APPROVED protein-coding ENSG00000169071 10257 03822 113000;268310;602337 REVIEWED 1319776 RP1L1 retinitis pigmentosa 1-like 1 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010] 8 8 8 p23.1 9591303 9640515 - 10501269 10550027 - 10463859 10512617 - 1580863;7240710 14702039;12724644;12634863;16869982;17655910;18716609;19657028;20236041;20826268;22466457;22504327;23251661 94137 A6NKC6;Q8IWN7 ABBA01026889;AC104964;AC105001;AJ491324;AMYH01018477;AY168341;AY168342;AY168343;AY168344;AY168345;AY168346;NG_028035;NM_178857 AAN86959;AAN86960;AAN86961;AAN86962;AAN86963;AAN86964;CAD36957;NP_849188;Q8IWN7 Hs.33538 1693318;1693932 G42365;G42658 DCDC4B OTTHUMP00000224979;retinitis pigmentosa 1-like 1 protein APPROVED protein-coding ENSG00000183638 15946 10546 608581;613587 REVIEWED 1346565 RP21 retinitis pigmentosa 21 9135384 8020 13434 1350078 RP22 retinitis pigmentosa 22 (autosomal recessive) 7240710 9545639 6114 1298329;1731693;7184480 D16S403;D16S524 10276 1350835 RP23 retinitis pigmentosa 23 (X-linked recessive) 7240710 6115 1335254;2144844 DXS1223;DXS7161 10277 1354304 RP24 retinitis pigmentosa 24 (X-linked recessive) 7240710 9792872 6116 1339260 DXS8106 10278 1345668 RP25 retinitis pigmentosa 25 (autosomal recessive) 7240710 9585594;10417302 8414 10279 602772 1350951 RP28 retinitis pigmentosa 28 (autosomal recessive) 7240710 10507729 23680 10281 606068 1343032 RP29 retinitis pigmentosa 29 (autosomal recessive) 7240710 54110 10282 1318061 RP1 retinitis pigmentosa 1 (autosomal dominant) This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010] 8 8 q12.1 55691180 55705947 + 55528627 55543394 + 1580863;6480464;7240710 10391211;18552984;18347624;17286855;16568030;16185528;15980210;15863674;15183808;14702039;12882812;12764676;12048676;11790298;11773008;10401003;10391212;10188731;1783394;16869982;19657028;20236041;20664799;18997786;19933189;20801516;11767049;22917891;21746989;22927954;23049240;23077400;22052604;20301590;22317909 6101 P56715 ABBA01041745;AC090137;AC090151;AC091076;AF128525;AF141021;AF143222;AF143226;AF146592;AF152242;AK098176;AK302348;AK304443;AK316511;AMYH01018728;AY672590;CH471068;DQ980612;DQ980613;DQ980614;DQ980615;NG_009840;NM_006269 AAD42072;AAD44197;AAD44198;AAD46769;AAD46774;AAI56508;AAI72506;AAT75005;ABJ97137;ABJ97138;ABJ97139;ABJ97140;BAG53587;BAG63675;BAG65264;BAH14882;EAW86749;NP_006260;P56715 Hs.732820 1657974;1719213;2219648 RH123325;RP1__5519;STS-AA018812 DCDC4A;FLJ50293;FLJ55454;FLJ79410;ORP1 OTTHUMP00000226582;oxygen-regulated protein 1;retinitis pigmentosa 1 protein;retinitis pigmentosa RP1 protein APPROVED protein-coding ENSG00000104237 10263 04896 145750;180100;603937 REVIEWED 1346635 RP6 retinitis pigmentosa 6 (X-linked recessive) 7240710 6104 1701928;7183977 DXS28 10286 1315588 RORB RAR-related orphan receptor B The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation. [provided by RefSeq, Jul 2008] 9 9 q22 76302072 76491937 + 77112252 77302117 + 1580863;6480464 7926749;885817;8858107;7935491;15164053;12958591;12477932;11849752;11689423;11504880;11121580;10860982;9670004;8905729;8889548;8816759;15604093;19839995;19909500;20201926;20379614;22318606;22589738;23396134 6096 Q58EY0;Q92753 AB307695;ABBA01033881;ABBA01033882;ABBA01033883;ABBA01033884;AK313431;AL118995;AL137018;AL355674;AL691650;AMYH01021415;BC051830;BC093772;BC093774;BM669680;BM698896;BX647070;CH471089;HQ709186;NM_006914;Y08639 AAH51830;AAH93772;AAH93774;ABZ92181;ADZ17393;BAG36222;BAH02286;CAA69929;EAW62552;NP_008845;Q92753 Hs.494178 1647144;1665546;1675205;1719329;1721449;1739277;1754347;2140262;2147522;2157912;2173031;2179085;2182220 A008J35;D2S1936E;D9S2009;G59576;HSC2BA062;RH123390;RH48589;SHGC-132372;SHGC-24180;SHGC-31325;SHGC-31359;WI-14716;WI-3909 NR1F2;ROR-BETA;RZR-BETA;RZRB;bA133M9.1 OTTHUMP00000021486;RAR-related orphan receptor beta;nuclear receptor ROR-beta;nuclear receptor RZR-beta;nuclear receptor subfamily 1 group F member 2;retinoic acid-binding receptor beta;retinoid-related orphan receptor beta;retinoid-related orphan receptor-beta APPROVED protein-coding ENSG00000198963 10259 09062 601972 REVIEWED 736329 ROS1 c-ros oncogene 1 , receptor tyrosine kinase This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008] 6 6 q22 117716223 117853711 - 117609530 117747018 - 1580863;6480464 14574404;2827175;3785223;19056482;18676680;18566305;18506375;18097620;18083107;17975119;17967605;17275003;16761743;16175505;15456853;15235104;12538861;11266449;11094073;8675006;3115921;3023956;2691958;2352949;1611909;12661006;22617245;22659450;20098747;10958799;12477932;19023099;19170196;19578796;19625176;19692168;19709766;19863298;20379614;21253578;22215748;22585869;16885344;22327623;23426121;22661537;23401445;23415111;22915320;23143601;23400546;23459443;17676665;18160848;19204000;19328187 6098 H0Y3T9;P08922;Q5H8Y1 ABBA01026040;ABBA01026041;ABBA01026042;AL132671;AMYH01016620;BC144556;CH471051;M13599;M13880;M34353;NM_002944;Z98880 AAA36580;AAA60277;AAA60278;AAI66687;EAW48208;EAW48209;NP_002935;P08922 Hs.1041 1671131;1700868;1715707;2178250;2183202;2219646 D6S1072;D6S1873;RH104060;RH119300;RH69070;ROS1__5518 MCF3;ROS;c-ros-1 OTTHUMP00000017814;OTTHUMP00000017815;c-Ros receptor tyrosine kinase;proto-oncogene c-Ros;proto-oncogene c-Ros-1;proto-oncogene tyrosine-protein kinase ROS;receptor tyrosine kinase c-ros oncogene 1;transmembrane tyrosine-specific protein kinase;v-ros UR2 sarcoma virus oncogene homolog 1;v-ros avian UR2 sarcoma virus oncogene homolog 1 APPROVED protein-coding ENSG00000047936 10261 01295 165020 REVIEWED 1318175 RORA RAR-related orphan receptor A The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 q22.2 58576755 59308794 - 60780483 61521502 - 1580863;6480464 21514275;16713569;17545671;7926749;18658046;17512500;16632463;16539693;16189514;15886715;15790933;15781255;15662020;15489334;15013753;14742449;14741380;14722075;12477932;12377782;12168086;22318606;22509368;12114512;11121580;10900268;10478845;9862959;8858107;7935491;7916608;7838158;7706239;7490103;19913121;20375269;20628086;20800221;19324970;20860503;20733416;20211758;14701856;14702039;15604093;19041634;19693801;19846067;19909500;19965867;20072116;20122401;20174623;20332535;20379614;21102462;21116278;21060049;20817722;21043485;18087039;21300955;17455211;23043388;23208419;19786043;21359227;21480365;21818335;21998696;22485150;22589738;22024429;22350413;22001757;22010049;22424883;23211525;23063684;22104449;23212062;22744720;23063525;22538398 6095 H0YII6;H0YLS5;P35398 AB307694;ABBA01038942;ABBA01038943;ABBA01038944;ABBA01038945;ABBA01038946;AC009560;AC012404;AC022898;AC079068;AC087385;AC107241;AC107905;AK055969;AL530219;AL532048;AL832164;AMYH01006692;AMYH01006693;AMYH01006694;BC008831;BC033285;BC035094;BC048264;BC100987;BC100988;BC100989;BC100990;BG705319;CH471082;CQ834188;CQ834190;CQ834192;CQ834194;DB482516;HQ692818;HQ709174;L14611;NG_029246;NM_002943;NM_134260;NM_134261;NM_134262;U04897;U04898;U04899 AAA02963;AAA62658;AAA62659;AAA62660;AAH08831;AAI00988;AAI00989;AAI00990;AAI00991;ADZ17329;ADZ17381;BAH02285;CAH05309;CAH05310;CAH05311;CAH05312;EAW77593;EAW77594;EAW77595;EAW77596;NP_002934;NP_599022;NP_599023;NP_599024;P35398 Hs.560343;Hs.655155 1298250;1335133;1645939;1646273;1646833;1647224;1648407;1648973;1660549;1661663;1663397;1667003;1670110;1672937;1677520;1680922;1682599;1690472;1695182;1699740;1708678;1709290;1711946;1714235;1722621;1723573;1750703;1761113;1761565;1775054;1777775;1777991;1783162;1783184;1792910;1848350;2110709;2118895;2122068;2127841;2132099;2142148;2142150;2145741;2147099;2154649;2161519;2163591;2164920;2166051;2174608;2175600;2181795;2181984;2183711;2184073;2185596;2186553;5093996 1636;A007F12;A010A16;AFMa244wc9;D0S9037;D15S1239;D15S1285;D15S1286;D15S1288;D15S1343;D15S510;D15S548;D15S916;D15S970;G33045;G48231;G49584;G60394;IB1184;PMC16845P1;RH103476;RH119896;RH123241;RH15626;RH44557;RH44576;RH44599;RH44924;RH46100;RH46333;RH48082;RH66701;RH68707;RH68816;RH79719;RH92287;RH93932;RH99264;RORA_2996;SGC33753;SHGC-107773;SHGC-112188;SHGC-142223;SHGC-145118;SHGC-145563;SHGC-34398;SHGC-34807;SHGC-56795;SHGC-58073;SHGC-81480;SHGC-85843;STS-AA020923;STS-AA034058;STS-H87475;STS-N54497;STS-T90468;WI-13367;WI-16983;WI-22150 DKFZp686M2414;MGC119326;MGC119329;NR1F1;ROR1;ROR2;ROR3;RZR-ALPHA;RZRA OTTHUMP00000163657;OTTHUMP00000163658;OTTHUMP00000163666;RAR-related orphan receptor alpha;ROR-alpha;nuclear receptor ROR-alpha;nuclear receptor RZR-alpha;nuclear receptor subfamily 1 group F member 1;retinoic acid receptor-related orphan receptor alpha;retinoid-related orphan receptor alpha;retinoid-related orphan receptor-alpha;thyroid hormone nuclear receptor alpha variant 4;transcription factor RZR-alpha APPROVED protein-coding ENSG00000069667 10258 02896 600825 REVIEWED 1352599 RPA2P1 replication protein A2 pseudogene 1 14 14 14 q21.3 27326105 27327531 + 46535232 46536858 + 47465582 47467008 + 326628 ABBA01018084;AL359951;AMYH01005705;NG_002610 RPA2P APPROVED pseudo 19676 INFERRED 7240882 RPA2P2 replication protein A2 pseudogene 2 10 q23.1 82896299 82897079 - 389990 ABBA01003787;AL356154;AMYH01002886;NG_022150 2149354 G30996 pseudo 45117 INFERRED 7241105 RPA2P3 replication protein A2 pseudogene 3 11 100207601 100208354 + 100420359 ABBA01039969;AMYH01003986;AP001892;NG_024553 pseudo 45118 INFERRED 2289743 RP9P retinitis pigmentosa 9 pseudogene 7 7 7 p14.3 32938110 32964463 - 32922952 32949307 - 32956427 32982782 - 6480464 12477932 441212 Q9BZU6 AACC02000103;ABBA01056856;AC018648;AC083863;AF274938;AK091223;AMYH01017162;BC036907;BC050570;CH471073;NR_003500 AAK07516;EAW94003 Hs.648086 1854727;5015961;5022322 D11S2560;D15S1477;RH44672 FLJ33904 pseudo ENSG00000205763 33969 PROVISIONAL 1317896 RORC RAR-related orphan receptor C The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q21 150045171 150070972 - 151778547 151804348 - 1580863;6480464 19449310;19439651;19112760;19029904;18564921;18434325;17504012;17240331;16381901;15489336;15489334;14702039;12855222;12477932;11983153;11230166;11076863;10963675;10875923;10602018;9403063;8125298;7811290;10405182;15144897;15604093;19648312;19692128;19965867;20379614;20427770;20450585;20203100;20106535;20211758;16712791;21391996;22989874;23043388;21455110;22326581;21791252;21566134;21426710;22404826;22058032;22237416;21628590;21988832;23211525;23128233;22891280 6097 F1D8P6;H7BYJ4;P51449;Q6I9R9 AB307696;ABBA01049405;AF075096;AK097994;AK128522;AK223137;AK298460;AK315662;AL589765;AL834219;AMYH01001395;AW004872;BC031554;BC110571;BI520481;CB161467;CH471121;CR457436;HQ692834;NG_029118;NM_001001523;NM_005060;U16997 AAA64751;AAH31554;AAI10572;ABM81731;ABM84886;ADZ17345;BAD96857;BAG38028;BAG53561;BAG60673;BAH02287;CAD38900;CAG33717;CAL38693;CAL38751;EAW53405;EAW53406;NP_001001523;NP_005051;P51449 Hs.256022;Hs.607993 1715889;1858000;2169416;2217918 RH122679;RH16275;RORC_3000;SHGC-34816 MGC129539;NR1F3;RORG;RZR-GAMMA;RZRG;TOR OTTHUMP00000015253;OTTHUMP00000015254;RAR-related orphan nuclear receptor variant 2;RAR-related orphan receptor C, isoform a;RAR-related orphan receptor gamma;nuclear receptor ROR-gamma;nuclear receptor RZR-gamma;nuclear receptor subfamily 1 group F member 3;retinoic acid-binding receptor gamma;retinoid-related orphan receptor gamma;retinoid-related orphan receptor-gamma 2314803 GLUCO119_H APPROVED protein-coding ENSG00000143365 10260 04250 602943 REVIEWED 7248298 RPA3-AS1 RPA3 antisense RNA 1 12690205;16344560;21139048;21216879;23251661 729852 AACC02000012;ABBA01056521;AC004948;AC006465;AC007161;AC009473;AK027125;AK295253;AMYH01017058;AMYH01017059;AMYH01017060;CH236948;DA678734;DC354992;NR_034084 BAG58242;EAL24303 Hs.652371 miscrna 48955 VALIDATED 1342620 RP9 retinitis pigmentosa 9 (autosomal dominant) The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009] 7 7 p14.3 33100934 33115527 - 33134409 33149002 - 1580863;6480464;7240710 15652350;15556297;15541726;15489334;15474994;12690205;12477932;12032732;10931201;8513323;8079997;16671097;20801516;21832049;19471022;20301590 6100 C9J6V2;Q8TA86 AACC02000103;ABBA01056861;AC074338;AMYH01017165;AX016710;BC025928;CH471073;NG_012968;NM_203288 AAH25928;ABZ92536;EAL24465;EAW94012;EAW94013;EAW94014;NP_976033;Q8TA86 Hs.326805 1644163;1647508;1652412;1854727;2109771 D7S460;RH44672;RH65893;RP9_8598;SGC33228 PAP-1 OTTHUMP00000202859;OTTHUMP00000202860;Pim-1 kinase associated protein;pim-1-associated protein;retinitis pigmentosa 9 protein APPROVED protein-coding ENSG00000164610 10288 08457 180104;607331 REVIEWED 1345059 RP2 retinitis pigmentosa 2 (X-linked recessive) The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008] X X p11.3 46581320 46626737 + 46696347 46741793 + 1580863;1599605;6480464;7240710 10937588 9697692;17724181;17093403;17081983;16969763;16936086;16472755;16457815;16344560;15772651;15489334;14566651;14564670;12657579;12477932;11992260;11847227;11798852;11462235;10942419;10862093;10634633;10520237;10090907;10053026;8938433;6325945;2876947;18376416;22072390;17207965;20801516;20625056;19516003;19852809;20021257;20106869;12417528;23150612;21285245;22183373;21139048;21890473;21906983;21987572;21963094;23000965;20301590;23372056 6102 O75695 ABBA01052262;ABBA01052263;ABBA01052264;ABBA01052265;ABBA01052266;ABBA01052267;ABBA01052268;ABBA01052269;ABBA01052270;ABBA01052271;ABBA01052272;ABBA01052273;AJ007590;AK312555;AL049366;AL050307;AL627143;AMYH01022253;BC027851;BC043348;BC053530;CH471164;DA211161;NG_009107;NM_006915 AAH43348;AAH53530;ADQ33082;BAG35452;CAA07577;EAW59275;NP_008846;O75695 Hs.44766 2124254;5015861;5015961;7185938 D10S16;D15S1477;DXS7 DELXp11.3;KIAA0215;NM23-H10;NME10;TBCCD2;XRP2 OTTHUMP00000023189;protein XRP2 APPROVED protein-coding ENSG00000102218 10274 02424 300757;312600 REVIEWED 1350001 RPA4 replication protein A4, 30kDa This gene encodes a single-stranded DNA-binding protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damage response. This protein may also play a role in inhibiting viral replication.[provided by RefSeq, Apr 2010] X X q21.33 96025563 96027122 + 96138907 96140466 + 1580863;2306716;6907045;7246926 18157157;19154342 7760808;18676680;15929725;15772651;15489334;12477932;11092888;7565690;9084803;19116208;19170196;19692168;19942684;19996105;19468048;17207965;21832049 29935 Q13156 ABBA01064554;AF494047;AMYH01022702;BC069791;BC069808;BC069824;BC104013;BC104014;CH471115;NG_008433;NG_013259;NM_013347;U24186;Z86061 AAB08488;AAH69791;AAH69808;AAH69824;AAI04014;AAI04015;AAM09569;ACE87774;ACT64440;ADQ32894;EAX02794;NP_037479;Q13156 Hs.659349 2130927;2219150;5493187 HSU24186__6606;RH70584;UniSTS:484639 HSU24186;MGC120333;MGC120334 OTTHUMP00000023647;RF-A protein 4;RP-A p30;replication factor A protein 4;replication protein A 30 kDa subunit;replication protein A complex 34 kd subunit homolog Rpa4;replication protein A4, 34kDa APPROVED protein-coding ENSG00000204086 30305 06591 300767 REVIEWED 1316541 RPA1 replication protein A1, 70kDa 17 17 p13.3 1680095 1748120 + 1733273 1802848 + 1580863;2306716;6480464;6907045;7246926 18157157;19154342 12171929;1311258;10825162;15897895;8756712;10583946;9111189;16135809;18029348;9826763;10214908;11080452;11473323;19530647;19367581;19297315;19262689;19237606;19187036;19165145;19104052;18774935;18723675;18593712;18522944;18515800;18469000;18438969;18245774;18003706;17981954;17765923;17721672;17700070;17700069;17616578;17591703;17583916;17507928;17494052;17110927;16893181;16731533;16522650;16520097;16438930;16169070;16082227;15965237;15735006;15653682;15620706;15489334;15456284;15279788;15273694;15180989;15096578;14966274;14747526;14605214;14596605;14499497;12791985;12754299;12621583;12614612;12486030;12477932;12181327;12077133;12050365;11972036;11968016;11950880;11927569;11895905;11884592;11751427;11479296;11254741;11092888;11063722;10473346;10373438;10064605;9461578;9396813;9121429;8990123;8454588;8020972;7760808;7565690;2050703;9084803;16306615;9443979;12181313;15489903;17296725;15856006;12973351;12527904;10608806;15205463;12139939;22261722;22894931;20159562;21399625;20167590;20515732;20575039;20616048;16251902;19419957;19515846;19538122;19586055;19812417;19854130;20103649;20139621;20184389;20233725;20347428;20395205;20496165;20522537;8361542;8798463;20562859;20423048;19843584;20528769;16872911;17035231;19059499;19661379;20819778;21496876;18162465;21240188;18480432;20587534;21107010;19748364;12724401;19287380;19410544;21486569;21859891;17596542;20227374;21062395;21558276;19338310;10713094;15831485;23095756;23277564;23398456;23543748;22863883;22939629;22990118;21900206;21901111;11259578;18781797;20639865;21139048;21890473;21906983;21935481;21963094;22948311;21252943;22194613;15140983;19738201;21987572;21988832;22940245;23000965;22179778;22661229;19471022;21907836;17620599;19531213;22379092;8397206;8397207;16916636;22510597;22705371;19766185;15914671;19275579;19446504;21504906;22053931;22505724 6117 I3L2M5;I3L4R8;I3L524;P27694 AB209732;ABBA01054680;AC130689;AF167994;AK289704;AMYH01008005;AY599563;BC018126;CH471108;M63488;NM_002945 AAA36584;AAH18126;AAQ13598;AAS94324;ADR83314;BAD92969;BAF82393;EAW90574;NP_002936;P27694 Hs.461925 1672224;1675443;1688136;1690784;1725741;1770660;1850282;1852146;2164378;2177722;2218596 D17S1427E;D17S2106;G29183;G62062;RH17723;RH18502;RH65492;RH76450;RH93214;RPA1_1165;WI-20954 HSSB;MST075;REPA1;RF-A;RP-A;RPA70 MSTP075;OTTHUMP00000115691;RF-A protein 1;RP-A p70;replication factor A protein 1;replication protein A 70 kDa DNA-binding subunit;single-stranded DNA-binding protein protein-coding ENSG00000132383 10289 01565 179835 VALIDATED 1344829 RPA2 replication protein A2, 32kDa 1 1 p35 28090636 28113823 - 28218049 28241236 - 1580863;2306716;6480464;6907045;7246926 18157157;19154342 12509449;15897895;2406247;10583946;9111189;16135809;9826763;10214908;11080452;11473323;19237606;17928296;17583916;17035231;16710414;16169070;15793585;15489334;15205463;12814551;12754299;12614612;12477932;11927569;11731442;11173472;11081631;10982866;10875894;10655057;10653628;22521144;10449415;10393198;10064605;9461578;9295339;9139719;9045683;8454588;8020972;7565690;1318195;16956949;9084803;17525332;7760808;12139939;15856006;11000264;12791985;19386720;19586055;19671522;19704001;19834905;20130019;20154705;20201926;20347428;20496165;20522537;18029348;19661379;19666485;20562859;18480432;20679368;21137066;16540648;21832049;22939629;20670893;21496876;12724401;10713094;19338310;19738201;21963094;21988832;23000965;23393223;23398456;23047005;22863883;20824083;21062395;21558276;21731742;11254741;11259578;20360068;21139048;21890473;21906983;21664290;21859891;22242598;22318606;22379092;21145461;22261722;22684010;18596088;21504906;21526938;22505724 6118 P15927;Q5TEJ0;Q5TEJ7 ABBA01035002;ABBA01035003;ABBA01035004;AK298759;AK300691;AK312956;AL109927;AMYH01000425;BC001630;BC012157;BC021257;CH471059;CR450348;DQ001128;J05249;NM_002946 AAA36560;AAH01630;AAH12157;AAH21257;AAX84514;ABM83278;ABM86747;BAG35795;BAG60901;BAG62374;CAG29344;EAX07724;NP_002937;P15927 Hs.79411 1658476;1685878;1692980;1769960;1780460;2113572;2149354 AL034207;G30996;RH68976;RPA2_V135;SHGC-124;SHGC-30251;stbA460I13SP6 REPA2;RPA32 OTTHUMP00000004008;OTTHUMP00000004009;OTTHUMP00000004010;OTTHUMP00000004011;RF-A protein 2;RP-A p32;RP-A p34;replication factor A protein 2;replication protein A 32 kDa subunit;replication protein A 34 kDa subunit protein-coding ENSG00000117748 10290 01566 179836 PROVISIONAL 1342806 RPAP1 RNA polymerase II associated protein 1 This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012] 15 15 15 q15.1 18577327 18604438 - 39596666 39623756 - 41809374 41836464 - 6480464 17374514;15345747;15302935;15282305;14702039;12477932;10718198;17643375;20379614;21044950;22939629;21139048;21906983 26015 H3BMR5;H3BPM3;H3BPY8;H3BRE8;H3BTJ6;Q9BWH6 AB037824;ABBA01038403;ABBA01038404;AC016134;AK022794;AK290224;AK308884;AL117479;AL157487;AMYH01006574;BC000246;CH471125;NM_015540 AAH00246;ACE86907;ACE87594;BAA92641;BAB14247;BAF82913;CAB55952;CAB75675;EAW92502;EAW92503;EAW92504;EAW92505;NP_056355;Q9BWH6 Hs.371045 2119295;2146602;2217920 D15S668;RPAP1_3568;T03501 DKFZp727M111;FLJ12732;KIAA1403;MGC858 OTTHUMP00000160862;RNA polymerase II-associated protein 1 APPROVED protein-coding ENSG00000103932 24567 11522 611475 REVIEWED 7174900 RPEP1 ribulose-5-phosphate-3-epimerase pseudogene 1 5 64546956 64547608 - 100420512 ABBA01048332;AC008868;AMYH01015132;NG_024597 pseudo 44520 INFERRED 7174947 RPEP2 ribulose-5-phosphate-3-epimerase pseudogene 2 3 p24.2 26057160 26057870 + 645065 ABBA01025012;AC093411;AMYH01013038;NG_022243 1671398;2148898 D3S3034;SHGC-14318 pseudo 44521 INFERRED 7174898 RPEP3 ribulose-5-phosphate-3-epimerase pseudogene 3 1 28066465 28067137 + 100420555 ABBA01034985;AL020997;AMYH01000424;NG_027074 2166253 RH47146 pseudo 44522 INFERRED 7174892 RPEP4 ribulose-5-phosphate-3-epimerase pseudogene 4 22 30004889 30005487 + 100420665 ABBA01055273;AC005529;AMYH01012698;NG_027475 pseudo 44523 INFERRED 7174899 RPEP6 ribulose-5-phosphate-3-epimerase pseudogene 6 11 71842328 71842955 + 100420590 ABBA01017542;AP000812;NG_024529;NG_032935 pseudo 44525 INFERRED 1315635 RPA3 replication protein A3, 14kDa 7 7 p22 7643100 7724763 - 7676575 7758238 - 1580863;2306716;6480464;6907045;7246926 18157157;19154342 8454588;12791985;10583946;9111189;18029348;9826763;10214908;11080452;11473323;19237606;19010961;18270339;17494052;15489334;12853948;12690205;12614612;12477932;11927569;11173472;11081631;10473346;9847074;9461578;8020972;7760808;9084803;17353931;21145461;22261722;20575039;20201926;20496165;20522537;20562859;17035231;19666485;21216879;15965237;12724401;19338310;22863883;22939629;21558276;20360068;21734401;21139048;21890473;21906983;10449415;11254741;21628590;22318606;21504906;22053931;22505724;2159011 6119 A4D105;B5MC59;P35244 AACC02000012;ABBA01056521;AC004948;AC007161;AK311842;AMYH01017058;BC005264;BC009868;BT007320;CH236948;CH471073;DQ003136;L07493;NM_002947 AAA58350;AAH05264;AAH09868;AAP35984;AAQ96878;AAX84517;BAG34784;EAL24304;EAW93603;EAW93604;EAW93605;NP_002938;P35244 Hs.487540 1341304;1649869;1689829;1690464;2127726;2130677;2140502;2184067;7184849 D7S1527;D7S2008;GDB:1317566;RH67981;RH80787;RPA3;SHGC-17982;STS-L07493 REPA3 OTTHUMP00000200929;OTTHUMP00000200930;OTTHUMP00000200931;OTTHUMP00000200992;RF-A protein 3;RP-A p14;replication factor A protein 3;replication protein A 14 kDa subunit protein-coding 10291 01567 179837 VALIDATED 1604268 RPAIN RPA interacting protein 17 17 17 p13.2 5339333 5352712 + 5263685 5276920 + 5322961 5336340 + 6480464 16135809;19336370;16344560;16008515;15489334;14702039;12477932;8125298;20237496;17207965;18029348;23010595;21360055;21890473 84268 B3KTT3;E9PDG9;F5H3Q7;Q6B4V9 AA745783;ABBA01054814;AC004148;AK055052;AK096001;AK098491;AK226044;AK295394;AK300409;AMYH01008051;AW268632;AY680654;AY680655;AY680656;AY680657;AY680658;AY680659;AY680660;AY775314;AY775315;AY775316;AY775317;AY775318;AY775319;AY775320;AY775321;AY775323;BC004451;BC013831;BC046349;BC051849;BC062623;BG059980;BI091755;CH471108;CK005117;CS300549;DA349558;N41653;NM_001033002;NM_001160243;NM_001160244;NM_001160246;NM_001160266;NR_027679;NR_027682;NR_027683;NR_027684;NR_027685 AAH04451;AAH46349;AAH51849;AAT80872;AAT80873;AAT80874;AAT80875;AAT80876;AAT80877;AAT80878;AAX14368;AAX14369;AAX14370;AAX14371;AAX14372;AAX14373;AAX14374;AAX14375;AAX14377;ADQ33045;BAC05317;BAG53195;BAG58348;BAG62139;CAK32213;EAW90338;EAW90339;NP_001028174;NP_001153715;NP_001153716;NP_001153718;NP_001153738;Q86UA6 Hs.462086;Hs.555866 1648153;1680709;1853151;2184685;2217086;5015861;5021369;5022576;5024039;5024516;5037552;7185938 C1QBP_3122;D10S16;D13S1568;D16S325;D17S2014;D1S1361;D8S2279;L17796;RH93604;STS-T86983;WI-18770 FLJ25625;FLJ30490;FLJ42429;HRIP;MGC4189;RIP RAP interaction protein;RPA-interacting protein;nuclear transporter protein-coding ENSG00000129197 28641 14615 VALIDATED 1349883 RPF2P1 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 1 20 20 20 q11.22 31089009 31089951 + 33793553 33805084 + 34340717 34341659 + 6480464 11780052 729608 ABBA01019149;AL357374;AMYH01011876;NG_009525 1808298;1817050;1821840;1822428;1826392;1836802;1839200;1842378;1976100;1976102;1976104;1976106;1976108;1976110;1976112;1976114;1976116;1976118;1976120;1976122;1976124;1976126;1976128;1976130;1976132;1976134;1976136;1976138;1976140;1976142;1976144;1976146;1976148;1976150;1976152;1976154;1976156;1976158;1976160;1976162;1976164;1976166;1976168;1976170;1976172;1976174;1976176;1976178;1976180;1976182;1976184;1976186;1976188;1976190;1976192;1976194;1976196;1976198;1976200;2215690;2215692;2215694;2215696;2215698;2215700;2215702 ECD05130;ECD09574;ECD12006;ECD12302;ECD14310;ECD19565;ECD20780;ECD22392;REN58938;REN58939;REN58940;REN58941;REN58942;REN58943;REN58944;REN58945;REN58946;REN58947;REN58948;REN58949;REN58950;REN58951;REN58952;REN58953;REN58954;REN58955;REN58956;REN58957;REN58958;REN58959;REN58960;REN58961;REN58962;REN58963;REN58964;REN58965;REN58966;REN58967;REN58968;REN58969;REN58970;REN58971;REN58972;REN58973;REN58974;REN58975;REN58976;REN58977;REN58978;REN58979;REN58980;REN58981;REN58982;REN58983;REN58984;REN58985;REN58986;REN58987;REN58988;stSG636840;stSG636841;stSG636842;stSG636846;stSG636847;stSG636848;stSG636849 BXDC1P;C20orf53;RPF2P;bA353C18.4 APPROVED pseudo 16186 INFERRED 6484022 RPF2P2 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 2 4 q26 116549965 116550860 + 100128462 ABBA01063851;AC093744;AMYH01014477;NG_022073 pseudo 44015 INFERRED 1602679 RPAP2 RNA polymerase II associated protein 2 1 1 1 p22.1 91010952 91106077 + 92537193 92626317 + 92764522 92853732 + 6480464 17643375;16710414;15489334;14702039;12477932;8125298;19615732;16055720;22990118;22137580 79871 Q8IXW5 ABBA01045546;ABBA01045547;ABBA01045548;AI612918;AK023212;AK225054;AL451010;AMYH01000796;BC031070;BC039014;CH471097;NM_024813 AAH31070;AAH39014;ADZ15573;BAB14465;EAW73095;EAW73096;NP_079089;Q8IXW5 Hs.444421 1643889;1672715;1693224;1699008;1720287;1720311;2164513;2177793 AL009350;AL033567;D1S2246;RH103075;RH123892;RH123904;RH69967;SHGC-31200 C1orf82;FLJ13150 OTTHUMP00000011943;RNA polymerase II-associated protein 2;putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 protein-coding ENSG00000122484 25791 07814 611476 VALIDATED 1603005 RPAP3 RNA polymerase II associated protein 3 This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 12 12 12 q13.11 46853186 46897316 - 46343341 46386041 - 48055715 48099844 - 6480464 19180575;18538670;17643375;16344560;15761153;12477932;21145461;19450687;20864038;20098747;16055720;20801936;21184742;22990118;19875381;21832049;22939629;14676191;21415862;19471022;19953087;21139048;21044950 79657 Q9H6T3 ABBA01031467;AC004241;AK025561;AK299465;AMYH01004427;BC003680;BC056415;CA449693;CH471111;DA096405;N39593;NM_001146075;NM_001146076;NM_024604 AAH56415;BAB15170;BAG61431;EAW57937;EAW57938;NP_001139547;NP_001139548;NP_078880;Q9H6T3 Hs.437855 1668286;2113010;2135475 D12S2170;WI-16433;WIAF-1692 FLJ21908 OTTHUMP00000241827;OTTHUMP00000241828;OTTHUMP00000241829;RNA polymerase II-associated protein 3 APPROVED protein-coding 26151 07970 611477 REVIEWED 732416 RPE65 retinal pigment epithelium-specific protein 65kDa This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008] 1 1 p31 68667095 68688230 - 68894507 68915642 - 737730;1580863;6480464;6893650;6893661;6907045;7240710 14517541;21447403;21785167 9326941;19049981;18774912;18766986;18722466;18599565;18539930;18484312;18216020;17848510;17724218;17651254;17197551;16754667;16518657;16272259;16198348;15837919;15557452;15489334;15009723;14962443;12960219;12477932;12357075;11786058;11727200;11462243;10766140;10386590;9801879;9501877;9501220;9328280;9326927;8474143;8340400;8034329;7633413;1331074;20591486;19117922;19431183;19753312;19806502;19920137;19959640;20043869;20356843;20399883;20510285;20801516;20811047;21211845;21654732;21736383;21931134;21911650;22171060;22509104;20301475;20301590;23341016 6121 Q16518;Q2EKB8 ABBA01074506;AF039868;AK289925;AL139413;AMYH01000693;BC075035;BC075036;CH471059;DQ374435;NG_008472;NM_000329;U18991;U20510 AAA99012;AAC14586;AAC39660;AAH75035;AAH75036;ABD37636;BAF82614;EAX06478;NP_000320;Q16518 Hs.2133 1679660;1685127;1793136;1793138;1793140;1793142;1793144;1793146;1793148;1793150;1793152;1793154;1793156;1793158;1793160;1793162;1793164;1849512 PMC19699P1;PMC19699P10;PMC19699P11;PMC19699P12;PMC19699P13;PMC19699P14;PMC19699P15;PMC19699P2;PMC19699P3;PMC19699P4;PMC19699P5;PMC19699P6;PMC19699P7;PMC19699P8;PMC19699P9;RH80292;RH92230;SHGC-31528 LCA2;RP20;mRPE65;rd12;sRPE65 OTTHUMP00000010788;RBP-binding membrane protein;all-trans-retinyl-palmitate hydrolase;p63;retinal pigment epithelium, 65 kda;retinal pigment epithelium-specific 65 kDa protein;retinitis pigmentosa 20 (autosomal recessive);retinoid isomerohydrolase;retinol isomerase APPROVED protein-coding ENSG00000116745 10294 01569 180069;204100;613794 REVIEWED 1320609 RPE ribulose-5-phosphate-3-epimerase 2 2 2 q32-q33.3 204635382 204654317 + 210575597 210594536 + 210867352 210886291 + 1599574;1580863;1641814;6480464;6907045 2843500;12721358 15231747;2581946;16189514;15901843;15489334;14702039;12477932;11124703;7396409;3366467;3236368;20923965;22939629;15146197;16344560 6120 B4E016;C9IYE8;C9IZU8;C9J6A7;C9J8S0;C9J9T0;C9JCL8;C9JPQ7;E7ESZ6;E7EW52;E9PBG9;F8WBT4;Q96AT9 AB075523;ABBA01062732;ABBA01062733;AC007038;AI222711;AJ224326;AK056028;AK093658;AK096199;AK291035;AK303184;AK308741;AL833120;AMYH01011461;AY947714;BC005148;BC016764;BC063135;BC072401;CH471063;CN372165;CR992340;DA237285;DC403549;NM_001278282;NM_001278283;NM_001278285;NM_001278286;NM_001278288;NM_001278289;NM_006916;NM_199229 AAH05148;AAH16764;AAH72401;AAX93087;AAY51626;ACE86672;ACE87356;BAB71076;BAC04212;BAF83724;BAG53229;BAG64278;CAA11895;EAW70472;EAW70473;EAW70474;NP_001265211;NP_001265212;NP_001265214;NP_001265215;NP_001265217;NP_001265218;NP_008847;NP_954699;Q96AT9 Hs.282260;Hs.591638;Hs.734255 1681730;1690654;1734914;2191715;2220006;5021134 D2S1686E;G37533;MARC_5533-5534:1031674173:1;RH11048;RH91925;RPE__5521 MGC2636;RPE2-1 OTTHUMP00000206409;OTTHUMP00000206410;OTTHUMP00000206411;OTTHUMP00000206412;OTTHUMP00000206413;OTTHUMP00000206435;OTTHUMP00000206436;OTTHUMP00000206438;OTTHUMP00000206440;OTTHUMP00000206441;OTTHUMP00000206444;ribulose-phosphate 3-epimerase protein-coding ENSG00000197713 10293 01608 180480 VALIDATED 1321922 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] 14 14 q11 20825976 20889300 + 21756136 21819460 + 1599580;1599581;1580863;6480464;7240710 11283794;12920076 11528500;17558407;17306875;16339905;16272259;15914599;15800011;15772089;15489334;12477932;12140192;11104772;10958648;10958647;20090203;17082780;20801516;22990118;21685204;21224891;22183349;23505306 57096 G3V236;G3V3F7;G3V3I7;G3V577;G8JL87;H0YIY1;H0YJ18;H0YJ99;H0YJK6;Q96KN7 ABBA01061242;ABBA01061243;ABBA01061244;ABBA01061245;AF227257;AF260257;AF265666;AF265667;AJ417048;AJ417067;AK301780;AL135744;AMYH01005595;AW593388;AY914561;BC039089;BX571740;CH471078;NG_008933;NM_020366 AAF91371;AAG10000;AAG10001;AAG10246;AAH39089;AAI48361;AAX11416;BAG63237;CAD01135;CAD01136;CAE11866;EAW66388;EAW66389;EAW66390;EAW66391;NP_065099;Q96KN7 Hs.126035 1654799;1852645;2119207;2124354;2169285;2182239 G29214;G35415;G35863;G35988;G36043;G36091 CORD13;DKFZp686P0897;LCA6;RGI1;RGRIP;RPGRIP;RPGRIP1d OTTHUMP00000244342;OTTHUMP00000244343;OTTHUMP00000244344;RPGR-interacting protein 1;X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 APPROVED protein-coding ENSG00000092200 13436 05673 605446;608194;613826 REVIEWED 1602209 RPF1 ribosome production factor 1 homolog (S. cerevisiae) 1 1 1 p22.3 83189094 83208206 + 84717508 84736621 + 84944920 84964033 + 6480464 12429849;16710414;15489334;14702039;12477932;11864606;11790298;17207965;21139048;21906983;22505724 80135 Q9H9Y2 AA761809;ABBA01045654;ABBA01045655;AF322053;AK022537;AL359584;AL359762;AL844170;AMYH01000752;BC016051;CH471097;CR627468;NM_025065 AAH16051;AAL37236;ADQ31725;BAB14086;CAH10670;CAH10671;EAW73237;NP_079341;Q9H9Y2 Hs.481202 1664464;1666276;5017585;5119128 BXDC5;D2S1920;RH68298;SHGC-34553 BXDC5;DKFZp761G0415;DKFZp761M0215;FLJ12475;RP11-118B23.1 2310066N05Rik;OTTHUMP00000011472;RNA processing factor 1 (RPF1);brix domain containing 5;brix domain-containing protein 5;ribosome biogenesis protein RPF1;ribosome production factor 1 APPROVED protein-coding 30350 15272 VALIDATED 1315787 RPF2 ribosome production factor 2 homolog (S. cerevisiae) 6 6 6 q21 112049860 112093367 + 111409984 111453487 + 111303291 111346794 + 1580863;6480464 17353931;19170763;15635413;15489334;14702039;12477932;12429849;12048200;19615732;17207965;21832049;18029348;21110914;21139048;22586326;21628590 84154 Q5VXM9;Q5VXN0;Q9H7B2 ABBA01026099;ABBA01026100;AK024740;AK292165;AK301662;AL357515;AL833613;AMYH01016591;BC005347;BC035314;CH471051;NM_032194 AAH35314;ADQ31673;BAB14983;BAF84854;BAG63137;EAW48301;EAW48302;EAW48303;EAW48304;NP_115570;Q9H7B2 Hs.372265 1341511;1719711;1731369;1976192;1976194;1976196;5014039;5020881;7184802 D18S21;D22S1584;D6S1698;L17709;REN58984;REN58985;REN58986;RH123544 BXDC1;FLJ21087;bA397G5.4 OTTHUMP00000017009;OTTHUMP00000017010;OTTHUMP00000017011;brix domain containing 1;brix domain-containing protein 1;homolog of Rpf2;ribosomal processing factor 2 homolog;ribosome biogenesis protein RPF2 homolog;ribosome production factor 2 homolog APPROVED protein-coding 20870 12552 VALIDATED 2802482 RPIAP1 ribose 5-phosphate isomerase A pseudogene 1 18 18 q21.33 56343781 56344240 - 59624327 59624786 - 11237011;15496913;16177791 619449 ABBA01056188;AC090354;AMYH01009047;NG_023037 pseudo 27250 INFERRED 1352855 RPGR retinitis pigmentosa GTPase regulator This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008] X X p21.1 38013367 38071732 - 38128423 38186788 - 1599602;1599600;1599605;1580863;6480464;7240710 11968081;16055928;10937588 15790807;17286855;9990021;18332319;18188948;18029348;17923551;17898302;17893654;17724181;17480003;17405150;17325176;17249551;17195164;17093403;16969763;16936086;16935610;16917484;16387007;16273303;16086276;16052169;16043481;15914600;15772089;15723066;15489334;15364249;15342556;14627685;14566651;14564670;14516808;12920075;12766038;12657579;12477932;12160730;12140192;11992260;11875055;11857109;11754050;11702207;11180598;11104772;10980543;10970770;10958648;10958647;10932196;10737996;10725384;10482958;10480356;10401007;10094550;9855162;9677393;9418727;9399904;9326322;8889548;8817343;8673101;8125298;7611300;2300556;21145461;20591486;20806050;19218993;19429592;19815619;19834030;20021257;20090203;20631154;20574030;20801516;20064120;21174525;22577079;21227725;23150612;20238008;21683121;21866333;21933838;21857984;19430481;21914266;22183348;20301590;23372056 6103 H7C4H4;H7C4L1;Q9HD29 ABBA01047036;ABBA01047037;ABBA01047038;ABBA01047039;ABBA01047040;ABBA01047041;AF286471;AF286472;AJ238395;AJ318463;AK223491;AK291832;AL606748;AMYH01022211;AY927527;BC031624;BK005711;BP233620;BX644678;CA313540;CH471141;DQ426891;DQ980616;NG_009553;NM_000328;NM_001034853;U57629;X97668 AAC50481;AAG00550;AAG00551;AAH31624;ADZ16018;BAD97211;BAF84521;CAA66258;CAB54002;CAC86116;DAA05713;EAW59441;EAW59442;EAW59443;EAW59444;NP_000319;NP_001030025;Q92834 Hs.61438 1663488;1739673;2127097;2156762;2178070 AF020171;DXS7560E;RH66572;RH70678;STS-AA026948 COD1;CORDX1;CRD;PCDX;RP15;RP3;XLRP3;orf15 OTTHUMP00000023140;OTTHUMP00000215634;OTTHUMP00000215635;OTTHUMP00000215636;X-linked retinitis pigmentosa GTPase regulator;retinitis pigmentosa 15;retinitis pigmentosa 3 GTPase regulator APPROVED protein-coding ENSG00000156313 10295 02425 300029;300455;300834;304020;312610 REVIEWED 1346580 RPL10AP1 ribosomal protein L10a pseudogene 1 14 14 14 q32.32 83932618 83933323 - 102948088 102948966 - 103878424 103879129 - 19123937 319135 ABBA01048429;AL133367;AMYH01006047;NG_002513;NG_030339 RPL10A_6_1413 pseudo 19813 INFERRED 2305700 RPL10AP10 ribosomal protein L10a pseudogene 10 5 5 5 q31.2 134068167 134078467 + 137974243 137984552 + 137946344 137956653 + 19123937;19240791 391836 ABBA01068664;AC113340;AMYH01015642;NG_010824 1331572;7186038 D5S476 RPL10A_4_618 pseudo 35971 INFERRED 2305558 RPL10AP11 ribosomal protein L10a pseudogene 11 8 8 8 p22 17206714 17207419 - 18285049 18285707 - 18240753 18241458 - 19123937 392206 ABBA01021573;AC025062;AMYH01018550;NG_010051 RPL10A_4_880 pseudo 35875 INFERRED 2305553 RPL10AP12 ribosomal protein L10a pseudogene 12 16 16 16 q24.1 70152531 70153254 - 84406980 84407643 - 85849452 85850173 - 19123937 401863 ABBA01034279;AC018695;AMYH01007889;NG_009471 RPL10A_7_1502 pseudo 36108 INFERRED 1603695 RPGRIP1L RPGRIP1-like The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q12.2 52191319 52295272 - 53633818 53737771 - 6480464;7240710 17558409;18565097;18426861;18281315;18256137;17960139;17558407;16344560;14702039;12477932;12107413;10231032;8889548;21068128;20519441;19430481;19913121;20628086;22876109;19066617;19410446;19464661;19574260;19844207;20865646;21685204;21857984;21139048;22183348;21254220;20301500;22425971;19389623 23322 H3BPF5;H3BPS4;H3BS47;H3BV03;I3L1B5;I3L2P2;J3QLR9;Q68CZ1 AB023222;ABBA01066497;ABBA01066498;AC007497;AC007909;AC084795;AK026552;AK093307;AK096333;AK304790;AK307929;AK308390;AMYH01007675;AMYH01007676;BC017977;BC136433;BM683568;BQ576116;CD674885;CH471092;CR749645;DA156084;DC423209;EF565106;NG_008991;NM_001127897;NM_015272 AAH17977;AAI36434;BAA76849;BAG65540;CAH18439;EAW82810;NP_001121369;NP_056087;Q68CZ1 Hs.298382 1337425;1339622;1664198;1718735;1758935;1777981;2173609;5127895 D16S3137;D16S415;RH123056;SHGC-151097;SHGC-152085;SHGC-56694;SHGC-60833;WI-11251 CORS3;DKFZp686C0668;FTM;JBTS7;KIAA1005;MKS5;NPHP8 RPGR-interacting protein 1-like protein;RPGRIP1-like protein;fantom homolog;nephrocystin 8;nephrocystin-8;protein fantom APPROVED protein-coding ENSG00000103494 29168 17204 216360;610937;611560;611561 REVIEWED 1353200 RPL10AP2 ribosomal protein L10a pseudogene 2 8 8 8 q11.1 44052697 44053412 + 48187776 48191592 + 48068710 48069425 + 19123937 253986 ABBA01018446;AC120036;AMYH01018700;NG_005655 RPL10A_5_900 pseudo 31081 INFERRED 2304471 RPL10AP13 ribosomal protein L10a pseudogene 13 18 18 18 q12 28962212 28962725 - 32153950 32154463 - 32153950 32154463 - 19123937 100271602 ABBA01022459;AC013290;AMYH01008936;NG_011250 RPL10A_8_1594 pseudo 36155 INFERRED 2303338 RPL10AP3 ribosomal protein L10a pseudogene 3 8 8 8 p12 33130334 33131049 - 34300055 34300702 - 34180478 34181193 - 19123937;21145461;22863883;21628590 137107 ABBA01023596;AC090993;AMYH01018638;NG_009498 1704520 SHGC-83044 HsT23218;RPL10A_5_891 pseudo 29803 VALIDATED 2305801 RPL10AP5 ribosomal protein L10a pseudogene 5 1 1 1 q43 215783904 215784592 + 240595048 240605889 + 242528462 242529150 + 19123937 645998 ABBA01022808;AL360271;AMYH01001877;NG_009789 FLJ40773;RPL10A_2_189 pseudo 36770 INFERRED 2305892 RPL10AP4 ribosomal protein L10a pseudogene 4 1 1 1 p31.1 79906937 79907651 + 81446841 81447492 + 81674220 81674934 + 19123937 343301 ABBA01074356;AL357632;AMYH01000739;NG_009989 RPL10A_1_67 pseudo 35873 INFERRED 2305568 RPL10AP6 ribosomal protein L10a pseudogene 6 3 3 3 p14.2 61740970 61741683 - 61703110 61718860 - 61728098 61728811 - 6480464 19123937;22118674 100128936 ABBA01024338;AC096919;AMYH01013239;NG_010877 RPL10A_1_376 pseudo 36504 INFERRED 2305674 RPL10AP7 ribosomal protein L10a pseudogene 7 4 4 4 p15.32 16197189 16197920 - 15341683 15342348 - 15732553 15733284 - 19123937 100128646 ABBA01032572;AC114744;AMYH01014021;NG_010699 1852460;2178676;2178678;2217080 BST1_2659;RH36393;SHGC-35585;SHGC-50363 RPL10A_2_460 pseudo 35601 INFERRED 1347244 RPH3A rabphilin 3A homolog (mouse) Exocytosis of neurotransmitters and hormones is fundamental to synaptic neurotransmission and cell-cell communication. RAB3A (MIM 179390) is a small G protein that is thought to act at late stages of exocytosis, and RPH3A is a RAB3A effector (Lin et al., 2007 [PubMed 17149709]).[supplied by OMIM, Jul 2008] 12 12 q24.13 111714125 111819631 + 113229549 113336686 + 1580863;6480464 10025402;9244430;8901523;8889548;8636125;8060298;7999065;7822236;7802677;7707875;12477932;10231032;11377421;18029348;17981610;17877635;17149709;16344560;15489334;15207266;12937130;12871946;12578829;22139419 22895 F8VNP7;F8VNU2;F8VNW3;F8VP47;F8VR41;F8VRJ1;F8VTR7;F8VTU5;F8VV58;F8VVK8;F8VZS2;F8W045;F8W116;F8W131;F8W1A3;F8W1K7;J3KR03;Q9Y2J0 AB023202;ABBA01019940;AC004465;AC004551;AK295696;AK296296;AK316112;AMYH01004756;BC002605;BC009843;BC017259;BU738474;BX647281;CH471054;DA332963;NM_001143854;NM_014954 AAH02605;AAH09843;AAH17259;BAA76829;BAH12159;BAH12307;BAH14483;EAW98014;EAW98015;EAW98016;EAW98017;EAW98018;NP_001137326;NP_055769;Q9Y2J0 Hs.21239 1757253;1965852;2109773;2135143;2138072;2141989;2144354;2147666 A004U31;D12S1857;D12S861;REN53801;RPH3A_9282;SHGC-144673;WI-10614;WI-11137 KIAA0985 OTTHUMP00000241932;OTTHUMP00000241934;OTTHUMP00000241936;OTTHUMP00000241937;OTTHUMP00000242034;exophilin-1;rabphilin-3A APPROVED protein-coding ENSG00000089169 17056 15273 612159 VALIDATED 2305588 RPL10AP8 ribosomal protein L10a pseudogene 8 5 5 5 q13.2 67564434 67573608 + 71704802 71713976 + 71669046 71678220 + 19123937 644154 ABBA01061905;AC093278;AMYH01015402;NG_010309 RPL10A_3_573 pseudo 36709 INFERRED 1345803 RPL10P1 ribosomal protein L10 pseudogene 1 21 21 21 q21.3 13975851 13976561 + 27714413 27715354 + 28792676 28793386 - 19123937 100288252 ABBA01057229;AMYH01012182;AP001605;NG_021990 5022810 RPL10 RPL10P;RPL10_7_1723 pseudo ENSG00000217026 10300 INFERRED 2304853 RPL10AP9 ribosomal protein L10a pseudogene 9 5 5 5 q14.3 82071809 82072514 - 86215770 86216454 - 86180027 86180732 - 6480464 19123937;22118674 728979 ABBA01062118;AC091429;AMYH01015468;NG_010772 RPL10A_3_593 pseudo 35947 INFERRED 2304619 RPL10P10 ribosomal protein L10 pseudogene 10 6 6 6 p12.1 56129481 56130141 - 54575244 54575904 - 54467285 54467945 - 19123937 100129930 ABBA01050515;AL136306;AMYH01016361;NG_010721 RPL10_3_705 pseudo 35486 INFERRED 2305901 RPL10P11 ribosomal protein L10 pseudogene 11 7 7 7 q21.11 74426845 74427586 - 79563847 79581614 - 79725837 79726578 - 19123937 100128030 AACC02000015;ABBA01058046;AC004159;AMYH01017642;CH236949;NG_010158 1792258 PMC140079P1 RPL10_4_817 pseudo 36565 INFERRED 6482931 RPL10P14 ribosomal protein L10 pseudogene 14 16 q12.1 50185130 50185506 - 390729 ABBA01000879;AC007610;AMYH01007658;NG_009909 pseudo 43897 INFERRED 1342477 RPL10P2 ribosomal protein L10 pseudogene 2 6 6 6 p22.1 28785035 28785675 + 27287002 27287670 + 27179023 27179663 + 19123937 442171 ABBA01037989;AL121934;AMYH01016188;NG_009499 RPL10_2_670;RPL10p;bA209A2.1 pseudo 13975 INFERRED 2303341 RPL10P3 ribosomal protein L10 pseudogene 3 9 9 q33.1 90590628 90591095 - 119942907 119943374 - 619445 ABBA01016278;AL355608;AMYH01021681;NG_009502;NG_021409 bA567J2.2 pseudo 23300 VALIDATED 1347963 RPH3AL rabphilin 3A-like (without C2 domains) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] 17 17 p13.3 62293 202576 - 62180 202633 - 1580863;6480464 14593078;9367993;17981610;15489334;15159548;15003533;14702039;12621583;12578829;12477932;12446671;12375017;11134008;10707984;10395805;15342556;16344560;19212825;20379614;21502085 9501 A8K7D5;I3L181;I3L1Q0;I3L2G8;I3L2I9;I3L2N0;I3L2W0;I3L2X0;I3L308;I3L349;I3L3M9;I3NI49;Q9UNE2 ABBA01015241;ABBA01015242;ABBA01015243;ABBA01015244;AC108004;AC129507;AC214012;AF129812;AK000469;AK291950;AMYH01007971;BC005153;BC093776;BC113413;BC143311;BF507559;BP275333;BU197069;BU568991;CH471108;DA378956;NG_023031;NM_001190411;NM_001190412;NM_001190413;NM_006987 AAD45582;AAH05153;AAH93776;AAI13414;ADR82928;BAA91186;BAF84639;EAW90669;EAW90670;EAW90671;EAW90672;NP_001177340;NP_001177341;NP_001177342;NP_008918;Q9UNE2 Hs.651925 1340669;1693502;1699426;1739517;1761759;1783596;2139710;2173544 D17S1866;D17S34;D17S643;RH103304;RH11606;SHGC-145724;SHGC-156242;SHGC-58343 NOC2 OTTHUMP00000115306;no C2 domains protein;rab effector Noc2 APPROVED protein-coding ENSG00000181031 10296 05345 604881 REVIEWED 2304863 RPL10P5 ribosomal protein L10 pseudogene 5 2 2 2 q12.3 103638672 103639392 - 108695147 108695788 - 109328692 109329412 - 19123937 644911 ABBA01000761;AC010095;AMYH01010857;NG_010252 RPL10_1_257 pseudo 35724 INFERRED 2305525 RPL10P16 ribosomal protein L10 pseudogene 16 19 19 19 p13.2 12643750 12644487 - 12614987 12615779 - 12754034 12754771 - 19123937;21145461;21963094;21987572;21628590 284393 ABBA01029785;AC010422;AMYH01009493;NG_011204 RPL10_6_1628 pseudo 36882 INFERRED 1322805 RPIA ribose 5-phosphate isomerase A The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010] 2 2 2 p11.2 87738845 87795148 - 88772291 88831567 + 88991176 89050452 + 1599574;1580863;1641814;6480464;6907045;7240710 2843500;12721358 14988808;7758956;15489334;12477932;7396409;16189514;19913121;20628086;18987987;19015949;20379614;21139048;22053931;23000965;19322201 22934 P49247;Q53R32 ABBA01018821;AC062029;AC096579;AMYH01010629;AY050633;BC015529;BF063086;CB989690;CH471215;L35035;NG_016710;NM_144563 AAH15529;AAK95569;AAY14778;AAY24200;EAW77066;EAW77067;NP_653164;P49247 Hs.469264 1682664;1777931;2108429;2157411;2171141 RH10995;RH45144;RH69369;RH98874;RPIA_9289 RPI OTTHUMP00000160851;phosphoriboisomerase;ribose 5-phosphate epimerase;ribose-5-phosphate isomerase APPROVED protein-coding ENSG00000153574 10297 01589 180430;608611 REVIEWED 2305739 RPL10P9 ribosomal protein L10 pseudogene 9 5 5 5 q34 164078645 164079369 + 167975757 167980168 + 168043301 168044025 + 19123937 389342 ABBA01044122;AC008590;AMYH01015796;NG_011151 RPL10_1_637 pseudo 35579 INFERRED 2305763 RPL10P7 ribosomal protein L10 pseudogene 7 3 3 3 q13.33 117762922 117763546 - 120837063 120837687 - 119354373 119354997 - 19123937 442086 ABBA01061581;AC073352;AMYH01013419;NG_011185 1752473 SHGC-106397 RPL10_2_395 pseudo 35974 INFERRED 2305773 RPL11P1 ribosomal protein L11 pseudogene 1 2 2 2 p14 65033518 65034126 - 65040646 65041254 - 65187142 65187750 - 19123937 100133170 ABBA01075428;AC007386;AMYH01010404;NG_010269 RPL11_1_236 pseudo 37021 INFERRED 2304992 RPL11P2 ribosomal protein L11 pseudogene 2 5 5 5 q23.3 126455963 126456554 + 130353489 130354020 + 130325572 130326164 + 19123937;17903298 133629 ABBA01068833;AC113367;AMYH01015609;NG_009748 RPL11_1_612 pseudo 36983 INFERRED 2304901 RPL11P4 ribosomal protein L11 pseudogene 4 10 10 10 q24.1 88098116 88098554 - 94356609 94357047 - 94356609 94357047 - 19123937 100271272 ABBA01021899;AL356128;AMYH01002950;NG_010874;NG_032580 RPL11_2_1080 pseudo 36137 INFERRED 2304902 RPL11P3 ribosomal protein L11 pseudogene 3 10 10 10 q23.3 83451682 83452282 + 89705237 89705837 + 89705237 89705837 + 19123937 100271271 ABBA01021960;AC063965;AMYH01002932;NG_007466;NG_010870 RPL11_2_1077 pseudo 36342 INFERRED 2305845 RPL11P5 ribosomal protein L11 pseudogene 5 12 12 12 q24.31 120666059 120666661 - 119516198 119516734 - 121031767 121032369 - 19123937 643499 ABBA01020129;AC063943;AMYH01004803;NG_009723 RPL11_3_1291 pseudo 36849 INFERRED 1352569 RPL12P1 ribosomal protein L12 pseudogene 1 6 6 6 p21.32 34922185 34922814 - 33475746 33476407 - 33367792 33368421 - 19123937;19167051 729727 ABBA01038147;AL021366;AL662799;AMYH01016245;BX088650;BX248088;NG_006554 CAA16156 CICK0721Q.1;RPL12-L;RPL12_5_682;dJ570F3.5 pseudo 13976 INFERRED 1606374 RPL12P10 ribosomal protein L12 pseudogene 10 7 7 7 p15.3 22907797 22908408 + 22886980 22888634 + 22921440 22922051 + 19123937 392872 AACC02000007;ABBA01056698;AC005682;AMYH01017110;CH236948;NG_005576 RPL12_8_793 pseudo 22583 INFERRED 732410 RPL10A ribosomal protein L10a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 6 6 6 p21.31 36990157 36992537 + 35544156 35546536 + 35436178 35438558 + 6480464 7609734;15189156;14567916;15635413;15489334;15342556;14574404;12962325;12694581;12477932;11790298;9647638;9582194;8722009;8607874;8012384;21145461;21319273;20877624;16541025;19710015;21182205;22939629;20164180;16196087;20434207;22586326;12777385;15161933;18274552;18781797;19596686;21081666;21139048;21890473;21906983;21942715;22118674;21628590;22505724 4736 P62906;Q1JQ76 AB082926;ABBA01038234;AF086557;AK313181;AL022721;AMYH01016267;BC006791;BC011366;BC013864;BC070216;BC116456;BP318268;BT020040;BT020041;CH471081;HC250967;HC311156;NM_007104;U12404;Z54966;Z62020 AAA86463;AAH06791;AAH11366;AAH70216;AAI16457;AAV38843;AAV38844;ABM82056;ABM85235;BAC16802;BAG35998;CBJ05781;CBJ21233;EAX03831;EAX03832;EAX03833;EAX03834;NP_009035;P62906 Hs.148340;Hs.546269 5113852 RH80448 Csa-19;L10A;NEDD6 60S ribosomal protein L10a;NEDD-6;OTTHUMP00000016255;neural precursor cell expressed developmentally down-regulated protein 6 APPROVED protein-coding ENSG00000198755 10299 10199 REVIEWED 1342774 RPL12P11 ribosomal protein L12 pseudogene 11 20 20 20 q12 36886633 36887264 + 39609308 39610119 + 40175974 40176605 + 19123937 128467 ABBA01052579;AL031669;AMYH01011916;NG_000964 RPL12L2;RPL12_22_1703;dJ661I20.1 pseudo 15835 INFERRED 1346828 RPL12P12 ribosomal protein L12 pseudogene 12 20 20 20 p11.23 19878120 19878744 - 19751951 19752775 - 19804051 19804675 - 19123937 85824 ABBA01054076;AL132821;AMYH01011757;NG_000945 RPL12L3;RPL12_16_1689;dJ999L4.1 pseudo 15951 INFERRED 2305895 RPL12P16 ribosomal protein L12 pseudogene 16 2 2 2 q33.2 197808367 197808994 + 203763666 203764315 + 204055415 204056042 + 19123937 100130447 ABBA01062602;AC011737;AMYH01011416;NG_010751 RPL12_4_315 pseudo 36926 INFERRED 2305484 RPL12P17 ribosomal protein L12 pseudogene 17 2 2 2 q33.3 202683727 202684358 - 208630217 208632835 - 208921926 208922557 - 19123937 344471 ABBA01062697;AC093698;AMYH01011452;NG_010797 RPL12_2_319 pseudo 36263 INFERRED 2305878 RPL12P18 ribosomal protein L12 pseudogene 18 2 2 2 p11.2 84930426 84931027 + 84954827 84955722 + 85101651 85102252 + 19123937 729760 ABBA01075727;AC010087;AMYH01010490;NG_010841 RPL12_3_246 pseudo 36750 INFERRED 2304615 RPL12P19 ribosomal protein L12 pseudogene 19 2 2 2 p21 44336626 44337250 + 44348049 44351805 + 44497672 44498294 + 19123937;22118674 100129982 ABBA01075106;AC013717;AMYH01010305;NG_008233;NG_009586 RPL12_2_212 pseudo 36248 INFERRED 1352484 RPL12P2 ribosomal protein L12 pseudogene 2 6 6 6 p21.2 38614065 38614683 + 37153452 37167600 + 37058997 37059621 + 19123937;22118674 646875 ABBA01038270;AL160264;AL356983;AMYH01016278;NG_009503 RPL12_6_688;dJ441G21.1 pseudo 16070 INFERRED 2304358 RPL12P14 ribosomal protein L12 pseudogene 14 1 1 1 p36.21 14602240 14602850 + 15991812 15992378 + 16119222 16119841 + 19123937;22118674 729500 ABBA01004695;AL450998;AMYH01000275;NG_010822 RPL12_1_13 pseudo 36495 INFERRED 2305308 RPL12P15 ribosomal protein L12 pseudogene 15 2 2 q14.3 115740647 115741282 - 122415992 122416636 - 19123937 100270920 ABBA01032246;AC018737;AMYH01010998;NG_010384 RPL12_1_272 pseudo 36619 INFERRED 2305305 RPL12P20 ribosomal protein L12 pseudogene 20 4 4 p13 41834424 41834902 + 41391132 41391610 + 19123937 100270923 ABBA01014264;AC095043;AMYH01014132;NG_010400 RPL12_5_471 pseudo 36968 INFERRED 2305307 RPL12P21 ribosomal protein L12 pseudogene 21 5 5 q31 134492549 134493087 - 138370796 138371334 - 19123937 100270921 ABBA01068652;AC011405;AMYH01015647;NG_010390 RPL12_3_619 pseudo 36845 INFERRED 2305306 RPL12P22 ribosomal protein L12 pseudogene 22 5 5 q35.2 169499629 169500100 - 173466754 173467225 - 19123937 100270922 ABBA01044015;AC113423;AMYH01015831;NG_010396 RPL12_4_640 pseudo 35762 INFERRED 2305303 RPL12P23 ribosomal protein L12 pseudogene 23 6 6 q27 171308010 171308455 + 170515014 170515459 + 19123937 100270925 ABBA01030848;AL596442;AMYH01016886;NG_010412 RPL12_7_777 pseudo 36408 INFERRED 2305304 RPL12P24 ribosomal protein L12 pseudogene 24 8 8 q23 102936460 102936936 - 106749508 106749984 - 19123937 100270924 ABBA01037676;AC090802;AMYH01018949;NG_010406 RPL12_6_940 pseudo 35952 INFERRED 1350175 RPL10 ribosomal protein L10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Alternative splicing results in multiple transcript variants. This gene also uses multiple polyA signals, with the 3'-most polyA signal overlapping the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2012] X X q28 153279912 153283874 + 153626571 153630680 + 1580863;6480464 9204867;9016777;8780716;8733135;8722009;8681137;8668549;8125298;8076819;7821789;1658743;1534224;1339145;1330878;1303197;16169070;9443083;15189156;18029348;14567916;11256614;19166581;18258260;18007048;17566674;16940977;16381901;16331298;15772651;15635413;15489336;15489334;12962325;12477932;12138090;11076863;9582194;21145461;22912744;19913121;20628086;16196087;19928837;21567917;23263491;21182205;22863883;22939629;23398456;23402259;23455922;16341674;18781797;21139048;21890473;21906983;22178446;12777385;15303970;15790807;18457437;19850743;21900206;21907836;22145905;17361185;22586326;20301615;19738201;21963094;21987572;22623428;22751105;23000965;23246001;23084401;22505724;22944692 6134 A6QRI9;B8A6G2;F8W7C6;H7C123;H7C2C5;H7C2U2;P27635 AA187603;AB007170;AB019572;ABBA01045288;AC245140;AF218023;AF486812;AK026568;AK027197;AK130582;AK223309;AK307511;AMYH01023315;AY927570;BC003358;BC018570;BC026276;BC071918;BC095425;BF589060;BF667333;BM845289;BX647954;BX936346;BX936347;CD521460;CH471172;CR456797;CR542069;D17268;D28410;DQ369703;DQ369704;DQ369705;DQ369706;DQ369707;DQ369708;DQ369709;DQ369710;DQ369711;DQ369712;DQ369713;DQ369714;DQ369715;DQ369716;F30590;L44140;M64241;M73791;M81806;NG_012890;NM_001256577;NM_001256580;NM_006013;S35960;S64168;S64169;U37218 AAA36021;AAA36378;AAA63253;AAA92646;AAB22173;AAB27665;AAD14832;AAG17265;AAH03358;AAH26276;AAH71918;AAL88713;ABC88559;ABC88560;ABC88561;ABC88562;ABC88563;ABC88564;ABC88565;ABC88566;ABC88567;ABC88568;ABC88569;ABC88570;ABC88571;ABC88572;BAA05776;BAA28595;BAB15688;BAD97029;CAG33078;CAG46866;CAL38215;EAW72736;EAW72737;EAW72738;EAW72739;EAW72740;EAW72741;NP_001243506;NP_001243509;NP_006004;P27635 Hs.534404 1665315;1677608;1736680;1748023;1801252;1801254;1801638;1802240;1803060;2036802;2036804;2036806;2036808;2036810;2036812;2036814;2036816;2036818;2036820;2036822;2036824;2036826;2036828;2036830;2036832;2036834;2036836;2036838;2036840;2036842;2036844;2036846;2036848;2036850;2036852;2036860;2102500;2102502;2102504;2102506;2102508;5094492;5109701 D17S1505E;DXS6979E;ECD01498;ECD01499;ECD01698;ECD02003;ECD02421;G54829;G65816;REN89410;REN89412;REN89413;REN89414;REN89415;REN89416;REN89417;REN89418;REN89419;REN89420;REN89421;REN89422;REN89423;REN89424;REN89425;REN89426;REN89427;REN89428;REN89429;REN89430;REN89431;REN89432;REN89433;REN89434;REN89435;REN89436;REN89440;RH45180;RP_L10;stSG604018;stSG604019;stSG604020;stSG604021;stSG604022 AUTSX5;DKFZp686J1851;DXS648;DXS648E;FLJ23544;FLJ27072;L10;NOV;QM 60S ribosomal protein L10;OTTHUMP00000031945;OTTHUMP00000063212;OTTHUMP00000063213;OTTHUMP00000183506;OTTHUMP00000196447;Wilms tumor-related protein;laminin receptor homolog;protein QM;tumor suppressor QM APPROVED protein-coding ENSG00000147403 10298 02421 300847;312173 REVIEWED 2305548 RPL12P27 ribosomal protein L12 pseudogene 27 10 10 10 q24.1 92807769 92808285 - 99052139 99067707 - 99069287 99069803 - 19123937 644202 ABBA01021812;AL355490;AMYH01002976;NG_010551 1337329;1782038;1782040 D10S577;SHGC-151118;SHGC-152138 RPL12_9_1087 pseudo 36916 INFERRED 2304900 RPL12P28 ribosomal protein L12 pseudogene 28 10 10 10 p 5834549 5834950 - 5904156 5904557 - 5904156 5904557 - 19123937 100271273 ABBA01034771;AL596094;AMYH01002002;NG_010880 RPL12_7_1019 pseudo 36818 INFERRED 2305302 RPL12P25 ribosomal protein L12 pseudogene 25 9 9 p24.3 394775 395390 + 477778 478396 + 19123937 100270926 ABBA01065456;AL161725;AMYH01019175;NG_010417;NG_016331 RPL12_9_954 pseudo 37008 INFERRED 2304899 RPL12P29 ribosomal protein L12 pseudogene 29 10 10 10 q23.1 80143813 80144403 - 86148876 86149466 - 86148876 86149475 - 19123937 100271274 ABBA01003755;AC074321;AMYH01002891;NG_010886 5094973 TNPO1 RPL12_8_1073 pseudo 35791 INFERRED 2304724 RPL12P31 ribosomal protein L12 pseudogene 31 11 11 11 p13 36165911 36166529 - 36018698 36019316 - 36018698 36019316 - 19123937 100271406 ABBA01060852;AL136146;AMYH01003490;NG_010248 RPL12_11_1136 pseudo 37025 INFERRED 2304725 RPL12P30 ribosomal protein L12 pseudogene 30 11 11 11 p13 30536016 30536644 + 30389607 30390235 + 30389607 30390235 + 19123937 100271405 ABBA01060937;AL353699;AMYH01003469;NG_010243 RPL12_11_1132 pseudo 35970 INFERRED 2304726 RPL12P26 ribosomal protein L12 pseudogene 26 10 10 10 q25 112685739 112686336 - 118955637 118956234 - 118955636 118956243 - 19123937 100271404 ABBA01062947;AL731557;AMYH01003101;NG_010240;NG_028085 RPL12_10_1101 pseudo 36811 INFERRED 1343170 RPL12P3 ribosomal protein L12 pseudogene 3 20 20 20 q11.21 28613938 28614333 - 31323629 31324224 - 31860068 31860463 - 19123937 128862 ABBA01019237;AL121901;AMYH01011854;NG_000978 RPL12_17_1694;bA49G10.7 pseudo 16335 INFERRED 2304344 RPL12P32 ribosomal protein L12 pseudogene 32 12 12 12 p11.21 11922976 11923601 + 31991716 31993088 + 32101180 32101805 + 19123937;22118674 100132795 ABBA01031730;AC023050;AMYH01004369;NG_010966 1710212;1772324 D12S1462;SHGC-83734 RPL12_12_1226 pseudo 36597 INFERRED 2305810 RPL12P33 ribosomal protein L12 pseudogene 33 12 12 12 q24.31 120988355 120988981 + 119838830 119839425 + 121354453 121355084 + 19123937 643550 ABBA01020142;AC078875;AMYH01004806;NG_011149 RPL12_13_1292 pseudo 35696 INFERRED 2304723 RPL12P34 ribosomal protein L12 pseudogene 34 13 13 13 q21.33 50131053 50131529 + 69228704 69229180 + 69228704 69229180 + 19123937 100271407 ABBA01050297;AL355611;AMYH01005191;NG_010251 RPL12_14_1319 pseudo 36168 INFERRED 2304637 RPL12P35 ribosomal protein L12 pseudogene 35 15 15 15 q23 49557683 49558307 - 70458553 70464260 - 72671515 72672139 - 19123937;22118674 400389 ABBA01038728;AC009690;AMYH01006762;NG_009017;NG_009987 RPL12_13_1452 pseudo 35969 INFERRED 2304722 RPL12P36 ribosomal protein L12 pseudogene 36 16 16 16 q21 43360365 43360814 + 58859801 58860250 + 58859801 58860250 + 19123937 100271408 ABBA01025317;AC012183;AMYH01007718;NG_010255 RPL12_17_1486 pseudo 36598 INFERRED 2304737 RPL12P37 ribosomal protein L12 pseudogene 37 17 17 17 q25.3 75577844 75578435 + 76557112 76565343 + 78950199 78950790 + 19123937 100129801 ABBA01032123;AC127496;AMYH01008702;NG_010016 RPL12_18_1579 pseudo 35565 INFERRED 2304721 RPL12P39 ribosomal protein L12 pseudogene 39 18 18 18 q22.1 58459491 58459972 + 61739404 61739885 + 61739404 61739885 + 19123937 100271410 ABBA01056231;AC021607;AMYH01009057;NG_010266 1815822;1816068;1883636;1883638;1883640;1883642;1883644;1883646;1883648;1883650;1883652;1883654;1883656;1883658;2200480 ECD08951;ECD09074;REN12511;REN12512;REN12513;REN12514;REN12515;REN12516;REN12517;REN12518;REN12519;REN12520;REN12521;REN12522;stSG619644 RPL12_20_1611 pseudo 35976 INFERRED 1351204 RPL12P4 ribosomal protein L12 pseudogene 4 20 20 20 q13.2 50395444 50396064 + 53124490 53125186 + 53691095 53691717 + 19123937 116149 ABBA01052876;AL121593;AMYH01011997;NG_000962 RPL12_23_1714;dJ800C24.1 pseudo 16587 INFERRED 2305469 RPL12P40 ribosomal protein L12 pseudogene 40 18 18 18 q12.2 32063576 32064054 + 33505266 33507146 + 35252658 35253136 + 19123937 646898 ABBA01022418;AC009899;AMYH01008942;NG_009756 RPL12_19_1596 pseudo 36439 INFERRED 2305775 RPL12P41 ribosomal protein L12 pseudogene 41 19 19 19 q13.32 43527557 43528188 + 51407956 51415017 + 46722592 46723223 + 19123937 100133139 ABBA01040964;AC006262;AMYH01009859;NG_010084 1650536;2112008 D19S1149;RH35798 RPL12_21_1660 pseudo 35999 INFERRED 7175180 RPL12P44 ribosomal protein L12 pseudogene 44 3 44979077 44980017 + 100419392 ABBA01024735;AC104165;AMYH01013126;NG_025693 1739043 D3S3243 pseudo 44603 INFERRED 2305910 RPL12P38 ribosomal protein L12 pseudogene 38 17 17 17 q23.2 57611528 57612151 - 55865794 55868139 - 58511039 58511661 - 19123937 645688 ABBA01035408;AC037475;AK090983;AMYH01008529;NG_010298 Hs.631738 5038352 ECD09439 RPL12_14_1564 pseudo 36838 INFERRED 1353924 RPL12P5 ribosomal protein L12 pseudogene 5 14 14 14 q12 11126088 11126479 + 30329955 30330546 + 31260304 31260695 + 19123937 319142 ABBA01061403;AL513133;AMYH01005638;NG_002518 1760195;2123635;2147129 D14S923;G35526;SHGC-132477 RPL12_15_1346 pseudo 19669 INFERRED 1344449 RPL12P7 ribosomal protein L12 pseudogene 7 14 14 14 q24.1 49218545 49219100 + 68229452 68230196 + 69159788 69160343 + 19123937 326275 ABBA01023689;AL121820;AMYH01005821;NG_002535 RPL12_16_1383 pseudo 19782 INFERRED 1602257 RPL12P6 ribosomal protein L12 pseudogene 6 14 14 14 q13.1 15073663 15074277 - 34279236 34280856 - 35209497 35210110 - 19123937;22118674 440176 ABBA01061483;AL355885;AMYH01005661;NG_009696 RPL12_12_1352 pseudo 23538 INFERRED 2304766 RPL12P43 ribosomal protein L12 pseudogene 43 X X X q24 117734823 117735321 + 117280026 117280524 + 117280026 117280524 + 19123937 100271387 ABBA01036839;AC003012;AMYH01022874;NG_010137 1787264 SHGC-144053 RPL12_24_1805 pseudo 35840 INFERRED 1347239 RPL12P8 ribosomal protein L12 pseudogene 8 10 10 10 q21.3 62908975 62909534 + 69279150 69314138 + 69634090 69634649 + 19123937 645161 ABBA01019551;AL133551;AMYH01002796;NG_006101 RPL12_10_1052;bA57G10.3 pseudo 23735 INFERRED 2305335 RPL12P42 ribosomal protein L12 pseudogene 42 19 19 19 p13.2 13159123 13160086 - 13127840 13137100 - 13268724 13269688 - 19123937 100129394 ABBA01029753;AC011446;AMYH01009503;NG_010590 RPL12_15_1630 pseudo 36165 INFERRED 2303449 RPL12P9 ribosomal protein L12 pseudogene 9 21 21 q21.3 15683419 15684045 - 30499970 30500596 - 19123937 654376 ABBA01057256;AF129075;AMYH01012188;NG_009547 RPL12_18_1725 pseudo 23766 VALIDATED 2305864 RPL13AP10 ribosomal protein L13a pseudogene 10 1 1 1 p13.2 112773285 112775196 - 114345578 114347488 - 114544055 114545965 - 19123937 100132906 ABBA01068459;AL591742;AMYH01000964;NG_010229 RPL13A_2_89 pseudo 36864 INFERRED 1353873 RPL13AP ribosomal protein L13a pseudogene 6 6 p21.3 31156374 31156891 + 29550285 29550802 + 19123937 387043 ABBA01038033;AL645936;AL662826;AMYH01016195;BX000688;BX927223;CR759766;CR759870;CR788300;NG_011172 RPL13A_5_675;dJ271M21.3 pseudo 13977 INFERRED 2304898 RPL13AP11 ribosomal protein L13a pseudogene 11 1 1 1 q32.1 178050805 178051367 + 204915735 204916297 + 204915735 204916297 + 19123937 100271276 ABBA01027437;AL391822;AMYH01001667;NG_010895;NG_029938 RPL13A_1_152 pseudo 36566 INFERRED 1314230 RPL10L ribosomal protein L10-like This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. [provided by RefSeq, Jul 2008] 14 14 14 q21.2 26980729 26981541 - 46189966 46190778 - 47120216 47121028 - 1580863;6480464 12490704;11256614;19123937;16381901;15489336;15489334;12477932;11076863;21628590;21145461;21319273;18029348;22939629;22505724;21906983;21726808;21987572;22118674;19333399 140801 Q96L21 AB063605;AB063608;ABBA01018080;AK130863;AL591768;AMYH01005705;BC014310;BC066312;CH471078;HC007270;NM_080746 AAH14310;AAH66312;BAC19833;BAC19835;CAL37812;CBH19440;EAW65775;NP_542784;Q96L21 Hs.308332 1792258 PMC140079P1 FLJ27353;RPL10_5_1358 60S ribosomal protein L10-like;OTTHUMP00000212540;ribosomal protein L10-like protein APPROVED protein-coding ENSG00000165496 17976 11753 REVIEWED 2304897 RPL13AP12 ribosomal protein L13a pseudogene 12 2 2 2 q33-q34 197137034 197137633 + 203385116 203385715 + 203385116 203385715 + 19123937 100271277 ABBA01062573;AC073410;AMYH01011410;NG_010898 RPL13A_3_312 pseudo 35673 INFERRED 2304896 RPL13AP14 ribosomal protein L13a pseudogene 14 5 5 5 q14.3 78947232 78947833 - 83042207 83042808 - 83042207 83042808 - 19123937 100271278 ABBA01062084;AC020899;AMYH01015456;NG_010902 RPL13A_3_590 pseudo 36360 INFERRED 2304895 RPL13AP15 ribosomal protein L13a pseudogene 15 6 6 6 q22 120334578 120335156 - 119590298 119590876 - 119590298 119590876 - 19123937 100271279 ABBA01026018;AL022722;AMYH01016625;NG_010909 RPL13A_4_746 pseudo 36883 INFERRED 2305229 RPL13AP13 ribosomal protein L13a pseudogene 13 5 5 5 q11.2 49455951 49456566 + 52538150 52538765 + 52502393 52503008 + 19123937 402214 ABBA01015718;AC026477;AMYH01015081;NG_010205 RPL13A_4_562 pseudo 36541 INFERRED 2305102 RPL13AP16 ribosomal protein L13a pseudogene 16 7 7 7 q22.3 100264972 100265607 + 105247174 105247809 + 105459938 105460573 + 19123937 100129553 AACC02000004;ABBA01057936;AC005099;AMYH01017820;CH236947;NG_010071 RPL13A_7_832 pseudo 35722 INFERRED 2305119 RPL13AP18 ribosomal protein L13a pseudogene 18 8 8 8 q21.13 77182166 77185435 - 81340295 81343564 - 81177740 81181009 - 19123937 402342 ABBA01004066;AC104212;AMYH01018825;NG_010866 RPL13A_5_919 pseudo 36593 INFERRED 2305863 RPL13AP19 ribosomal protein L13a pseudogene 19 10 10 10 q11.23 43538768 43545674 - 49623253 49630159 - 49953247 49960153 - 19123937 100132924 ABBA01047227;AC068898;AMYH01002640;NG_010319 RPL13A_6_1040 pseudo 35855 INFERRED 1345955 RPL13AP2 ribosomal protein L13a pseudogene 2 14 14 14 q21.3 27530281 27530853 - 46739402 46740174 - 47669752 47670324 - 19123937 326278 ABBA01018085;AL157792;AMYH01005705;NG_002538 1751425 SHGC-105251 RPL13A_12_1359 pseudo 19675 INFERRED 2304847 RPL13AP21 ribosomal protein L13a pseudogene 21 12 12 12 q12 45195152 45195811 - 44684076 44684735 - 46397809 46398468 - 19123937 100129799 ABBA01031453;AC084878;AMYH01004426;NG_010004 RPL13A_10_1231 pseudo 35654 INFERRED 2305232 RPL13AP20 ribosomal protein L13a pseudogene 20 12 12 12 p13.1 18177243 18177902 + 12903049 12920736 + 13028411 13029070 + 6480464 19123937;11181995 387841 ABBA01067856;AC007688;AI609875;AMYH01004292;CH471094;NR_003932 EAW96286;EAW96287 Hs.631728 RPL13A_9_1211 pseudo ENSG00000234498 35709 PROVISIONAL 2305920 RPL13AP22 ribosomal protein L13a pseudogene 22 12 12 12 p11.21 11225779 11227674 - 31296114 31298008 - 31404847 31406741 - 19123937 441632 ABBA01031758;AC024940;AMYH01004364;NG_010172 RPL13A_9_1223 pseudo 35825 INFERRED 2305919 RPL13AP23 ribosomal protein L13a pseudogene 23 12 12 12 q13.3 57726050 57726635 + 56354715 56355300 + 58068448 58069033 + 19123937 441641 ABBA01026694;AC025165;AMYH01004524;NG_010224 RPL13A_10_1240 pseudo 36498 INFERRED 2304470 RPL13AP24 ribosomal protein L13a pseudogene 24 12 12 12 p13.3-p13.2 4794843 4795442 - 3180712 3181311 - 3180712 3181311 - 19123937 100271603 ABBA01048788;AC125807;AMYH01004185;NG_011259 RPL13A_8_1193 pseudo 36209 INFERRED 2305122 RPL13AP25 ribosomal protein L13a pseudogene 25 13 13 13 q14.3 36001385 36002044 - 53912783 53925566 - 55014813 55015472 - 19123937 100287887 ABBA01037048;AL356120;AMYH01005131;NG_012730 FWP004;RPL13A_11_1314;S863-4 pseudo 36981 INFERRED 2304493 RPL13AP26 ribosomal protein L13a pseudogene 26 22 22 22 q12.2 14849956 14851394 - 29379864 29381302 - 31049864 31051302 - 19123937 729212 ABBA01055304;AC003072;AMYH01012709;NG_010641 RPL13A_13_1745 pseudo 35492 INFERRED 1343517 RPL13AP5 ribosomal protein L13a pseudogene 5 10 10 10 q24.1 92252400 92253057 + 98486671 98500716 + 98510023 98510680 + 6480464 19123937 728658 ABBA01021828;AL358235;AMYH01002973;CD173238;NR_026712 Hs.645344 5119473 D19S1002 RPL13A_8_1086;bA196N24.2 pseudo ENSG00000236552 23736 VALIDATED 1348012 RPL13AP6 ribosomal protein L13a pseudogene 6 10 10 10 q25.2 106427962 106428614 - 112686337 112687004 - 112696361 112697013 - 6480464 19123937;10737800 644511 ABBA01063019;AL158163;AMYH01003065;BE830053;NG_028922;NR_026715 Hs.632083 RPL13A_7_1096;bA348N5.5 pseudo ENSG00000234118 23737 VALIDATED 1350057 RPL13AP7 ribosomal protein L13a pseudogene 7 21 21 21 q21.2 11917769 11918906 + 25655977 25657120 + 26734109 26735238 + 19123937 284821 ABBA01057208;AMYH01012174;AP001340;NG_009777 1689624;1770692 D21S1422;RH38886 RPL13A_12_1722 pseudo 23755 INFERRED 1318594 RPL11 ribosomal protein L11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010] 1 1 p36.1-p35 23890881 23895502 + 24018269 24022915 + 6480464;6484113;7240710 15195100;7748210;18697920;15189156;14567916;19287375;19191325;19061985;18560357;18389627;17599065;17116689;16803902;15489334;15308643;15152193;14612427;12962325;12815950;12477932;11790298;10353821;10343117;9582194;8722009;7821789;18426907;12842086;21145461;21319273;20554519;17110929;17373842;19713960;19773262;20056613;20194507;20378560;15314173;20935493;17310983;19417104;21182205;22863883;22990118;23169665;22939629;19167051;21097889;21804542;12777385;18274552;18457437;19596686;21807902;21903592;15064750;19738201;19805454;21399665;21963094;21988832;22190735;22623428;23000965;23077236;23182705;23246001;22467867;20639865;20972266;21139048;21890473;21906983;21987572;22178446;23455922;23463506;23728348;23776465;20301769;22145905;17620599;15314174;22081073;17242401;20547751;23398456;23612971;21853274;22053931;22505724;22833095 6135 P62913;Q5VVC8;Q5VVC9;Q5VVD0 AB007171;ABBA01059882;AF101385;AF432212;AK311816;AL451000;AMYH01000361;AY871274;BC018970;BF240826;BU954396;CA335141;CH471134;D28357;L05092;NG_011741;NM_000975;NM_001199802;X79234 AAC15856;AAD20460;AAH18970;AAL99919;AAX11430;ABM87711;ABW03860;BAA05723;BAA25831;BAG34759;CAA55816;EAW95067;EAW95068;NP_000966;NP_001186731;P62913 Hs.719951 1732848;1851171;5108196;5123558 D1S1285;D1S3382;D5S2608;SHGC-74406 DBA7;GIG34;L11 60S ribosomal protein L11;CLL-associated antigen KW-12;OTTHUMP00000002956;OTTHUMP00000003145;cell growth-inhibiting protein 34 APPROVED protein-coding ENSG00000142676 10301 10364 604175;612562 REVIEWED 2305681 RPL13AP8 ribosomal protein L13a pseudogene 8 1 1 1 q32.1 180332477 180333614 + 205147582 205148230 + 207080940 207082080 + 19123937 727831 ABBA01010195;AC098935;AMYH01001680;NG_009083 RPL13A_2_157 pseudo 36966 INFERRED 1344645 RPL13P ribosomal protein L13 pseudogene 6 6 p21 30435310 30435926 + 28829177 28829793 + 19123937 387044 ABBA01038028;AL662890;AL669978;AMYH01016194;BX119924;CR753651;CR936879;NG_009510 1785952 SHGC-144844 BBC1p;RPL13_3_673;dJ111M5.1 pseudo 13978 VALIDATED 2305776 RPL13P10 ribosomal protein L13 pseudogene 10 5 5 5 q35.3 176119855 176120380 + 180424761 180425286 + 180492155 180492680 + 19123937 100133108 ABBA01010090;AC008620;AMYH01015973;NG_011268 RPL13_2_647 pseudo 35943 INFERRED 2305055 RPL13AP9 ribosomal protein L13a pseudogene 9 1 1 p31.3 61395993 61396569 - 63106788 63107364 - 19123937 100271137 ABBA01074593;AL138847;AMYH01000670;NG_010176;NG_033073 RPL13A_1_58 pseudo 36341 INFERRED 2304384 RPL13P11 ribosomal protein L13 pseudogene 11 8 8 8 q13.3 67416172 67416735 - 71581044 71581607 - 71418490 71419053 - 19123937 100130225 ABBA01041940;AC022730;AMYH01018782;NG_010921 RPL13_3_914 pseudo 35805 INFERRED 2304848 RPL13P13 ribosomal protein L13 pseudogene 13 19 19 19 q13.43 53772223 53773007 - 61420349 61421133 - 56728537 56729321 - 19123937 100129796 ABBA01020837;AC011506;AMYH01010019;NG_009982 RPL13_5_1672 pseudo 36832 INFERRED 2304348 RPL13P14 ribosomal protein L13 pseudogene 14 20 20 20 q13.12 42205877 42206430 - 44925591 44926144 - 45492184 45492737 - 19123937 100130374 ABBA01052687;AL354766;AMYH01011945;NG_010376 RPL13_6_1708 pseudo 36387 INFERRED 2304640 RPL13P12 ribosomal protein L13 pseudogene 12 17 17 17 p11.2 18226152 18226860 - 17219372 17247191 - 17286669 17287377 - 19123937;21145461;21987572;22145905;21628590 388344 ABBA01009760;AC073621;AMYH01008157;NG_007541 RPL13_4_1521 pseudo 35701 INFERRED 2303446 RPL13P4 ribosomal protein L13 pseudogene 4 15 15 15 q24.2 52607057 52607697 + 73467667 73468222 + 75680577 75681217 + 19123937 654383 ABBA01060522;AC105137;AMYH01006814;NG_009554 HsT16723;RPL13_6_1454 pseudo 31027 VALIDATED 1351579 RPL13P2 ribosomal protein L13 pseudogene 2 20 20 20 q13.12 41439574 41440292 + 44161464 44162322 + 44728114 44728832 + 19123937;19573080;19773279 128500 ABBA01052674;AL035662;AMYH01011940;NG_000966 7184755 D16S444E RPL13P3;RPL13_7_1707;dJ599F21.2 pseudo 16342 INFERRED 1602623 RPL13AP17 ribosomal protein L13a pseudogene 17 7 7 7 q21.11 72676863 72689070 + 77814495 77826711 + 77976559 77988775 + 19123937;12477932;15479637;20966902 399670 AACC02000015;ABBA01058026;AC006043;AMYH01017635;BC027852;CH236949;CH471091;NR_003680 EAW77026 Hs.568045 1710776 SHGC-84053 RPL13A_6_816 pseudo ENSG00000231322 36167 14588 VALIDATED 1352859 RPL13P6 ribosomal protein L13 pseudogene 6 14 14 14 q32.32 83561922 83562547 + 102577559 102578184 + 103507806 103508431 + 19123937 100129176 ABBA01048443;AL133455;AMYH01006040;NG_010805 RPL13AP4;RPL13_5_1409 pseudo 19809 INFERRED 2304367 RPL13P7 ribosomal protein L13 pseudogene 7 1 1 1 q25.2 149310966 149311612 - 174466943 174467589 - 176200320 176200966 - 19123937 391140 ABBA01027863;AL359265;AMYH01001517;NG_011178 RPL13_1_131 pseudo 35510 INFERRED 2305300 RPL13P8 ribosomal protein L13 pseudogene 8 3 3 q13.13 106658830 106659331 - 108262221 108262722 - 19123937 100270928 AC069499;AMYH01013382;NG_010428 RPL13_2_391 pseudo 35513 INFERRED 2305301 RPL13P9 ribosomal protein L13 pseudogene 9 5 5 q13-q14 78402095 78402627 + 82497048 82497580 + 19123937 100270927 ABBA01062082;AC094085;AMYH01015452;NG_010421 RPL13_1_589 pseudo 36587 INFERRED 1346661 RPL14P1 ribosomal protein L14 pseudogene 1 12 12 12 q14.2 63027533 63028249 + 61643985 61646097 + 63359082 63359804 + 19123937;21987572 144581 ABBA01026625;AC078814;AMYH01004539;NG_009597 1743187;2160057 GDB:293939;RH78270 RPL14L;RPL14_1_1246;bcm1298 pseudo 31384 INFERRED 2305299 RPL14P2 ribosomal protein L14 pseudogene 2 3 3 p14.2 62782853 62783469 - 62764847 62765463 - 19123937 100270930 ABBA01024328;AC012519;AMYH01013241;NG_010436 2160057 RH78270 RPL14_1_377 pseudo 35962 INFERRED 2305499 RPL14P3 ribosomal protein L14 pseudogene 3 4 4 q31.1 138617364 138618052 - 141287356 141288046 - 19123937;9847074 730747 ABBA01069979;AC114771;AMYH01014571;NG_010438 RPL14_2_522 pseudo 36638 INFERRED 2304894 RPL14P4 ribosomal protein L14 pseudogene 4 12 12 12 q22 95190805 95191493 + 95519511 95520199 + 95519511 95520199 + 19123937 100271282 ABBA01053343;AC126615;AMYH01004667;NG_010923 RPL14_2_1267 pseudo 35663 INFERRED 1314871 RPL12 ribosomal protein L12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 9 q34 100860830 100864559 - 129249776 129253505 - 130209953 130213711 - 1580863;6480464 15189156;14567916;17081983;16964243;15635413;15592455;15489334;15164053;14702039;12477932;11809816;11790298;11101529;9582194;9013569;8722009;8441690;7821789;16169070;21145461;21319273;19834535;20583170;16712791;15064750;23169665;23314748;21182205;21832049;22939629;22990118;12962325;12777385;18274552;18457437;19596686;22003127;17620599;18781797;21139048;21890473;21906983;21942715;22118674;20473970;21628590;19738201;20085233;21963094;22623428;23000965;23246001;21853274;22505724 6136 P30050;Q59FI9 AB209471;ABBA01043833;AK026526;AK057602;AL445222;AMYH01021726;BC050644;BC059950;BC094831;BC105603;CB155565;CH471090;D28443;L06505;NG_032008;NM_000976 AAA36157;AAH50644;AAH59950;AAH94831;AAI05604;BAA05809;BAD92708;EAW87666;EAW87667;EAW87668;EAW87669;EAW87670;NP_000967;P30050 Hs.408054 1665273;2182826;5024145;5096049 A008L27;D9S1721;G33150;RH16398 L12 60S ribosomal protein L12;OTTHUMP00000022186 APPROVED protein-coding ENSG00000197958 10302 01603 180475 REVIEWED 2303485 RPL13AP3 ribosomal protein L13a pseudogene 3 14 14 14 q22.3 36282304 36283776 + 55302648 55303287 + 56232963 56234435 + 6480464 19123937;12477932;21906983 645683 Q6NVV1 ABBA01018217;AL355773;AMYH01005748;BC067891;NR_004844 Q6NVV1 Hs.663461 5119473 D19S1002 MGC87657;RPL13A_11_1370 pseudo ENSG00000177350 23539 PROVISIONAL 3277915 RPL14P5 ribosomal protein L14 pseudogene 5 X X X p22.33;Yp11.32 122993 123373 + 889945 890836 - 970455 970835 - 442442 AL672277;CH471225;NG_009084 EAW66814 2127311 DXYS137 pseudo 37720 INFERRED 2304749 RPL15P11 ribosomal protein L15 pseudogene 11 7 7 7 q33 130082245 130082859 + 134995327 134995941 + 135344786 135345400 + 19123937;12690205;15576338 402694 AACC02000025;ABBA01001123;AC093107;AMYH01017959;CH236950;NG_009995 EAL24059 RPL15_5_851 pseudo 36093 INFERRED 2305093 RPL15P12 ribosomal protein L15 pseudogene 12 8 8 8 q24.21 127054829 127055520 + 130945906 130946597 + 130876724 130877415 + 19123937 100131958 ABBA01037971;AC022973;AMYH01019021;NG_010613 RPL15_6_949 pseudo 35529 INFERRED 1349869 RPL15P1 ribosomal protein L15 pseudogene 1 20 20 20 p11.23 18145262 18145954 - 18018660 18019459 - 18070703 18071395 - 19123937 128756 ABBA01054042;AL160411;AMYH01011742;NG_000975 RPL15_9_1687;dJ726N1.3 pseudo 16583 INFERRED 2305564 RPL15P13 ribosomal protein L15 pseudogene 13 10 10 10 q25.3 110372247 110390301 + 116633047 116651093 + 116643057 116661103 + 19123937 100131338 ABBA01062970;AL137025;AMYH01003089;NG_010020 1752769 SHGC-106583 RPL15_8_1099 pseudo 35915 INFERRED 2304893 RPL15P14 ribosomal protein L15 pseudogene 14 10 10 10 q22.1 67232947 67233576 + 73949705 73950334 + 73949705 73950334 + 19123937 100271283 ABBA01020362;AL607035;AMYH01002820;NG_010927;NG_031890 RPL15_7_1062 pseudo 36487 INFERRED 2305788 RPL15P15 ribosomal protein L15 pseudogene 15 11 11 11 q23.3 112976255 112976866 - 115326118 115326729 - 115820908 115821519 - 19123937 100128347 ABBA01039760;AMYH01004050;AP000797;NG_010477 RPL15_4_1179 pseudo 36780 INFERRED 2304355 RPL15P16 ribosomal protein L15 pseudogene 16 11 11 11 q13.4 69956119 69956733 + 72329191 72329805 + 72651543 72652157 + 19123937 100127949 ABBA01017530;AP002381;NG_011061 RPL15_9_1154 pseudo 36067 INFERRED 2305610 RPL15P17 ribosomal protein L15 pseudogene 17 12 12 12 p13.31 10149488 10150136 + 8504447 8505095 + 8613180 8613828 + 6480464 19123937 728002 ABBA01012242;AC092865;AMYH01004238;NG_011003 RPL15_10_1204 pseudo 36852 INFERRED 2305608 RPL15P18 ribosomal protein L15 pseudogene 18 13 13 13 q32.3 81647257 81647960 - 99600695 99601398 - 100802694 100803397 - 6480464 19123937 728088 ABBA01027093;AL356575;AMYH01005334;NG_008768;NG_010118 RPL15_5_1331 pseudo 36515 INFERRED 1354056 RPL15P2 ribosomal protein L15 pseudogene 2 14 14 14 q32.13 75321882 75323956 - 94335424 94337683 - 95265756 95267856 - 19123937;23192594 326279 ABBA01030410;AL121612;AMYH01005970;NG_002539 RPL15_6_1404 pseudo 19803 INFERRED 2305543 RPL15P20 ribosomal protein L15 pseudogene 20 16 16 16 p13.11 15706025 15706657 - 15933055 15933687 - 16025554 16026186 - 19123937 646672 ABBA01048909;AC130651;AMYH01007182;NG_010064 RPL15_7_1476 pseudo 36130 INFERRED 2304346 RPL15P21 ribosomal protein L15 pseudogene 21 17 17 17 p12 10794703 10795634 - 10704573 10705504 - 10763848 10764779 - 19123937 100132722 ABBA01054982;AC015908;AMYH01008107;NG_010592 1697754 RH102400 RPL15_8_1514 pseudo 36190 INFERRED 2305831 RPL15P22 ribosomal protein L15 pseudogene 22 22 22 22 q12.1 11084887 11085623 - 25612808 25613544 - 27282808 27283544 - 6480464 19123937 100130624 ABBA01055207;AMYH01012684;NG_010342;Z97353 1664533;1720969 G59314;WI-22652 RPL15_10_1742 pseudo 36933 INFERRED 1348057 RPL15P4 ribosomal protein L15 pseudogene 4 6 6 6 p21.33 33094091 33094736 + 31601730 31604449 + 31495853 31496498 + 19123937 100129921 ABBA01038080;AL662847;AL663061;AMYH01016217;BX001040;BX682535;BX927320;CR753820;CR753864;CT009531;NG_009512 1706756 SHGC-80845 Em:AC006046.2;RPL15_4_680 pseudo 21663 VALIDATED 1346139 RPL15P3 ribosomal protein L15 pseudogene 3 6 6 6 p24.1 13742359 13743060 + 12622276 12623027 + 12514306 12515007 + 6480464 19123937;21987572;23251661 653232 ABBA01022115;AL355137;AMYH01016089;NG_008796 RPL15_3_658;bA511S14.1 pseudo 21538 INFERRED 2304353 RPL15P5 ribosomal protein L15 pseudogene 5 2 2 2 q22.1 132747922 132748835 + 138597488 138753345 + 139036108 139037021 + 19123937 100127993 ABBA01028128;AC069394;AC097523;AMYH01011129;NG_011291 1722367;1773604;5094400 D2S2019;G54775;G60254 RPL15_1_277 pseudo 35746 INFERRED 2301125 RPL13P5 ribosomal protein L13 pseudogene 5 12 12 12 p13.31 8610424 8611057 + 6863440 6864025 + 6993145 6993778 + 19123937;12477932;9074930 283345 ABBA01017662;AMYH01004209;AY672103;NR_002803;U47924;U72513 Hs.720698 2144775 RH71256 RPL13-2;RPL13L;RPL13_4_1199;RRPL13L pseudo ENSG00000240370 30363 VALIDATED 2305298 RPL15P6 ribosomal protein L15 pseudogene 6 3 3 q25.32 156417654 156418266 - 157993598 157994210 - 19123937 100270933 ABBA01058822;AC074276;AMYH01013606;NG_010448 RPL15_1_425 pseudo 36185 INFERRED 2305345 RPL15P7 ribosomal protein L15 pseudogene 7 4 4 4 p12 48157579 48158544 + 47403096 47404061 + 47708339 47709304 + 6480464 19123937 728576 ABBA01014337;AC092597;AMYH01014159;NG_009957;NG_032679 RPL15_2_475 pseudo 36808 INFERRED 2305297 RPL15P8 ribosomal protein L15 pseudogene 8 4 4 q28.2 126371258 126371850 - 128990175 128990767 - 19123937 100270934 ABBA01044809;AC099340;AMYH01014509;NG_010451 RPL15_2_518 pseudo 36390 INFERRED 7205201 RPL17-C18orf32 RPL17-C18orf32 readthrough This locus represents naturally occurring read-through transcription between the neighboring RPL17 (ribosomal protein L17) and C18orf32 (chromosome 18 open reading frame 32) genes. Alternative splicing results in multiple transcript variants. The encoded isoforms share sequence identity with the RPL17 protein, but they include frameshifted C-terminal regions derived from the downstream gene exons. [provided by RefSeq, Dec 2010] 18 q 47007548 47018935 - 20967262 100526842 P18621 ABBA01018653;AC100778;AMYH01008990;BI461805;BX393840;NM_001199355;NM_001199356 NP_001186284;NP_001186285 Hs.374588;Hs.603040 1660968;1730777;1852898 D18S103E;RH70037;SGC30182 RPL17-C18orf32 protein protein-coding 44661 VALIDATED 2305296 RPL15P9 ribosomal protein L15 pseudogene 9 6 6 q23.2 132848963 132849554 - 132101810 132102488 - 19123937;9847074 100270935 ABBA01025887;AC005587;AMYH01016674;NG_010454 RPL15P10;RPL15_3_755 pseudo 36466 INFERRED 1342969 RPL17P1 ribosomal protein L17 pseudogene 1 20 20 20 p11.2 20307939 20308474 - 20181847 20182582 - 20233947 20234482 - 19123937 140748 ABBA01054080;AL049648;AMYH01011760;NG_000991 1711252 SHGC-84987 RPL17_18_1690;dJ1178H5.1 pseudo 16559 INFERRED 1351421 RPL17L1 ribosomal protein L17-like 1, G1-phase expressed 8123253 6140 10308 2305295 RPL17P10 ribosomal protein L17 pseudogene 10 2 2 q31.3 195721846 195722305 - 201967221 201967680 - 19123937 100270936 ABBA01062535;AC007272;AMYH01011402;NG_010458 RPL17_2_309 pseudo 35838 INFERRED 2305294 RPL17P11 ribosomal protein L17 pseudogene 11 2 2 q37 228350806 228351330 - 234630138 234630756 - 19123937 100270937 ABBA01001949;AC114812;AMYH01011579;NG_002601 1800216;1950560;1950562;1950564;1950566;1950568;1950570;1950572;2201338 ECD00965;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;stSG620114 RPL17_3_336 pseudo 36509 VALIDATED 2305293 RPL17P12 ribosomal protein L17 pseudogene 12 2 2 q22.3 140664919 140665444 + 146951864 146952389 + 19123937 100270938 ABBA01028036;AC009476;AMYH01011150;NG_010467 1717495 RH122253 RPL17_6_281 pseudo 36779 INFERRED 732066 RPL13 ribosomal protein L13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011] 16 16 16 q24.3 74690596 74693354 + 88154591 88157349 + 89627065 89633237 + 1580863;6480464 9582194;17474147;15189156;14567916;19034380;16786168;15635413;15489334;14702039;12477932;11997338;11790298;9114010;8722009;7821789;1301162;11101529;17267499;21145461;21319273;23084401;12962325;16196087;21182205;22863883;22939629;19928837;20434207;16751776;22354994;12777385;17461779;18274552;18457437;18781797;19596686;21081666;21139048;21890473;21900206;21906983;21987572;22178446;22145905;17361185;21044950;21628590;22779921;17203973;22505724 6137 A8K4C8;H3BTH3;H3BUK8;J3KS98;J3QSB4;P26373 AB007172;AB062392;ABBA01014145;AC092123;AK025405;AK026501;AK095954;AK127579;AK130963;AK130964;AK290893;AK294655;AK297198;AK308545;AMYH01007931;BC000851;BC004954;BC006179;BC007345;BC007563;BC007805;BC010994;BC013078;BC014167;BC020804;BC027463;BC063378;BC066320;BC093063;BC106058;BG706207;CH471184;D28432;DQ575437;NM_000977;NM_001243130;NM_001243131;NM_033251;X64707 AAH04954;AAH07345;AAH07563;AAH07805;AAH10994;AAH13078;AAH14167;AAH20804;AAH27463;AAH63378;AAH66320;AAH93063;AAI06059;ABM82385;ABM85562;BAA05798;BAA25832;BAB93479;BAF83582;BAG54527;BAG57828;BAG59685;CAA45963;EAW66724;EAW66725;NP_000968;NP_001230059;NP_001230060;NP_150254;P26373 Hs.410817 1662146;1687600;1730956;2121740;2168941;2168943;5016965;7184755 D16S444E;HUM00KMB07;RH1656;RH65713;SHGC-11987;SHGC-2485;SHGC-60730 BBC1;D16S444E;D16S44E;FLJ27453;FLJ27454;FLJ38635;L13;MGC117342;MGC71373 60S ribosomal protein L13;OK/SW-cl.46;OTTHUMP00000165255;OTTHUMP00000165256;breast basic conserved protein 1 APPROVED protein-coding 10303 06428 113703 REVIEWED 2305292 RPL17P13 ribosomal protein L17 pseudogene 13 2 2 q23.2 143910357 143910887 + 150296411 150296941 + 19123937 100270939 ABBA01004742;AC007394;AMYH01011161;NG_010475 RPL17_7_285 pseudo 36378 INFERRED 2305871 RPL17P15 ribosomal protein L17 pseudogene 15 2 2 2 q14.2 113781886 113783487 + 120172669 120174203 + 120456165 120457766 + 19123937 100128117 ABBA01045923;AC069154;AMYH01010988;NG_010608 RPL17_5_269 pseudo 36889 INFERRED 1351312 RPL13A ribosomal protein L13a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13.3 46860188 46864887 + 54682677 54687377 + 49990811 49995565 + 1580863;6480464 11875025;18995835;22533734;10580157;15189156;12588972;14567916;17921318;15635413;15489334;14702039;12962325;12477932;11790298;9582194;8764399;8722009;8125298;1282492;16169070;19913121;20628086;20716364;18809582;17207965;20139978;15479637;17218275;21182205;21114473;22771119;12777385;15840729;18781797;21987572;22178446;20972266;21139048;21890473;21906983;21963094;21628590;17267499;21145461;22505724 23521 M0QYS1;M0QZU1;P40429;Q8J015 AB028893;AB082924;ABBA01032924;AC010619;AK056837;AK130605;AK222747;AK291120;AK297859;AMYH01009912;BC000514;BC000847;BC001675;BC001836;BC004900;BC013230;BC032107;BC062537;BC065236;BC070223;BC071929;BC105605;BG536330;BQ069994;CH471177;NM_001270491;NM_012423;NR_073024;X56932 AAH00514;AAH01675;AAH01836;AAH04900;AAH62537;AAH65236;AAH70223;AAH71929;AAI05606;ACE86461;ACE87142;ADQ32192;BAA88214;BAC16800;BAD96467;BAF83809;BAG60190;CAA40254;EAW52495;EAW52496;NP_001257420;NP_036555;P40429 Hs.523185 1689624;5014922;5113212;5119473 D19S1002;D19S1021;RH27395;RH38886 L13A;TSTA1 23 kD highly basic protein;23 kDa highly basic protein;60S ribosomal protein L13a;OTTHUMP00000165841;tissue specific transplantation antigen 1 APPROVED protein-coding ENSG00000142541 10304 11775 REVIEWED 2304409 RPL17P16 ribosomal protein L17 pseudogene 16 3 3 3 p21.31 48111256 48111914 - 48137117 48137722 - 48162113 48162777 - 19123937 729349 ABBA01024659;AC124916;AMYH01013148;NG_009988 RPL17_4_369 pseudo 35939 INFERRED 2305290 RPL17P14 ribosomal protein L17 pseudogene 14 2 2 q36.3 223644171 223644667 + 229868602 229869098 + 19123937 100270941 ABBA01050154;AC007677;AMYH01011544;NG_010484 RPL17_8_331 pseudo 35806 INFERRED 2305288 RPL17P17 ribosomal protein L17 pseudogene 17 3 3 p14.1 65846141 65846753 + 65829537 65830149 + 19123937 100270943 ABBA01024300;AC025589;AMYH01013252;NG_010492;NG_029778 RPL17_9_379 pseudo 35515 INFERRED 2303484 RPL17P2 ribosomal protein L17 pseudogene 2 14 14 q23.1 40729115 40729582 - 60679281 60679748 - 19123937 652974 ABBA01018278;AL157756;AMYH01005766;NG_009524 RPL17_13_1376 pseudo 23540 VALIDATED 2305767 RPL17P20 ribosomal protein L17 pseudogene 20 4 4 4 q12 55082293 55082918 + 57270983 57271566 + 57576187 57576812 + 19123937 391655 ABBA01003433;AC022483;AMYH01014196;NG_011190 RPL17_10_481 pseudo 36015 INFERRED 2305041 RPL17P21 ribosomal protein L17 pseudogene 21 5 5 q11.2 49153342 49153912 + 52199738 52200308 + 19123937 100271151 ABBA01015716;AC022133;AMYH01015078;NG_029349 RPL17_12_561 pseudo 36037 INFERRED 2304971 RPL17P18 ribosomal protein L17 pseudogene 18 3 3 3 q29 196193331 196193967 - 199059437 199062266 - 197577236 197577861 - 19123937 100129657 ABBA01007561;AC144530;AMYH01013809;NG_010629 RPL17_5_454 pseudo 36538 INFERRED 2305649 RPL17P22 ribosomal protein L17 pseudogene 22 5 5 5 q11.2 52385480 52386097 + 55468563 55469150 + 55432771 55433405 + 19123937 727984 ABBA01015761;AC016638;AMYH01015096;NG_010916 RPL17_13_564 pseudo 35761 INFERRED 2305042 RPL17P19 ribosomal protein L17 pseudogene 19 4 4 q13.1 59536200 59536748 + 62077370 62077918 + 19123937 100271150 ABBA01022829;AC092643;AMYH01014221;NG_010247 RPL17_11_483 pseudo 36919 INFERRED 2305040 RPL17P23 ribosomal protein L17 pseudogene 23 6 6 q22.33 128499004 128499605 + 127756759 127757365 + 19123937 100271152 ABBA01025931;AL096711;AMYH01016656;NG_010254 RPL17_15_751 pseudo 35832 INFERRED 2305039 RPL17P24 ribosomal protein L17 pseudogene 24 6 6 q25.2 155272406 155273036 + 154538028 154538658 + 19123937 100271153 ABBA01025599;AL445220;AMYH01016755;NG_010258;NG_021208 RPL17_16_771 pseudo 36506 INFERRED 2305695 RPL17P25 ribosomal protein L17 pseudogene 25 6 6 6 q14.1 81505259 81505884 - 81140415 81141005 - 81083697 81084321 - 19123937 442232 ABBA01040421;AL359715;AMYH01016460;NG_010621 RPL17_6_718 pseudo 36844 INFERRED 2305291 RPL17P28 ribosomal protein L17 pseudogene 28 7 7 7 q34 133471992 133472542 - 138734202 138734752 - 138734202 138734752 - 19123937 100270940 AACC02000025;ABBA01001182;AC018644;AMYH01017974;CH236950;NG_010479;NG_029457 RPL17_7_858 pseudo 36055 INFERRED 2305038 RPL17P29 ribosomal protein L17 pseudogene 29 8 8 p23.1 10160480 10161086 + 11032519 11033125 + 19123937 100271154 ABBA01026884;AF131215;AMYH01018479;NG_010265 RPL17_18_874 pseudo 36510 INFERRED 1351309 RPL17P3 ribosomal protein L17 pseudogene 3 14 14 14 q31.1 61507372 61508055 - 80537131 80538014 - 81467478 81468161 - 326286 ABBA01030613;AC007262;AMYH01005901;NG_002540;NG_009206 pseudo 19796 INFERRED 2305526 RPL17P27 ribosomal protein L17 pseudogene 27 7 7 7 q34 133111461 133112077 + 138373684 138374300 + 138373684 138374300 + 19123937;12690205 202789 AACC02000025;ABBA01001172;AC020983;AMYH01017970;CH236950;NG_009649 EAL24045 RPL17_17_857 pseudo 36038 VALIDATED 2305036 RPL17P31 ribosomal protein L17 pseudogene 31 8 8 q13.2 64312113 64312745 + 68318704 68319342 + 19123937 100271156 ABBA01041900;AC011037;AMYH01018777;NG_010274 RPL17_21_910 pseudo 37036 INFERRED 2305037 RPL17P30 ribosomal protein L17 pseudogene 30 8 8 p12 40907653 40908175 + 41958836 41959358 + 19123937 100271155 ABBA01021151;AC103724;AMYH01018678;NG_010271 RPL17_20_898 pseudo 35604 INFERRED 2304849 RPL17P26 ribosomal protein L17 pseudogene 26 6 6 6 p12.1 58398148 58398774 + 56843948 56844502 + 56735947 56736578 + 19123937 100129784 ABBA01050490;AL512422;AMYH01016369;NG_011287 RPL17_14_707 pseudo 35597 INFERRED 2305289 RPL17P32 ribosomal protein L17 pseudogene 32 8 8 q23 102487202 102487726 - 106300069 106300593 - 19123937 100270942 ABBA01037659;AC041039;AMYH01018947;NG_010489 RPL17_8_939 pseudo 36492 INFERRED 2305361 RPL17P33 ribosomal protein L17 pseudogene 33 8 8 8 p12 28449482 28450100 + 29545526 29546104 + 29489572 29490199 + 19123937 646909 ABBA01005621;AC069181;AMYH01018612;NG_011315 RPL17_19_888 pseudo 36654 INFERRED 2305688 RPL17P34 ribosomal protein L17 pseudogene 34 10 10 10 q23.33 88784910 88785543 - 95033706 95034345 - 95043726 95044350 - 19123937 643863 ABBA01021876;AL365364;AMYH01002956;NG_010111 RPL17_10_1081 pseudo 36756 INFERRED 2304892 RPL17P35 ribosomal protein L17 pseudogene 35 10 10 10 q21.3 59649408 59649950 - 66380137 66380679 - 66380137 66380679 - 19123937 100271284 ABBA01019518;AC013287;AMYH01002781;NG_010932 RPL17_9_1049 pseudo 35819 INFERRED 2304410 RPL17P36 ribosomal protein L17 pseudogene 36 10 10 10 q26.11 114362128 114362757 - 120621489 120622147 - 120631526 120632149 - 19123937 729340 ABBA01062928;AL157388;AMYH01003107;NG_011307 RPL17_11_1102 pseudo 36051 INFERRED 2304720 RPL17P37 ribosomal protein L17 pseudogene 37 12 12 12 q24.23 118808858 118809462 - 119175737 119176341 - 119175725 119176341 - 19123937 100271411 ABBA01020064;AC087892;AMYH01004786;NG_010272 1334726;1695712 D12S1619;SHGC-82614 RPL17_12_1285 pseudo 36854 INFERRED 2304715 RPL17P38 ribosomal protein L17 pseudogene 38 12 12 12 q23.3 107778899 107779498 + 108113341 108113940 + 108113341 108113940 + 19123937 100271417 ABBA01053149;AC007622;AMYH01004726;NG_010301 RPL17_22_1275 pseudo 36219 INFERRED 1349566 RPL17P4 ribosomal protein L17 pseudogene 4 14 14 14 q32.32 83803396 83803996 + 102818900 102819685 + 103749235 103749835 + 19123937 326288 ABBA01048433;AL138976;AMYH01006044;NG_002541 RPL17_23_1411 pseudo 19811 INFERRED 2304719 RPL17P40 ribosomal protein L17 pseudogene 40 16 16 16 p13 15868033 15868513 - 16187890 16188370 - 16187890 16188370 - 19123937 100271413 ABBA01048920;AC136624;AMYH01007182;NG_010279;NG_028268 RPL17_15_1477 pseudo 36672 INFERRED 2304499 RPL17P39 ribosomal protein L17 pseudogene 39 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL17 gene, no convincing evidence of transcription exists. It is thus being annotated as a pseudogene. [provided by RefSeq, Feb 2009] 15 15 15 q23 48524673 48525303 - 69420500 69421162 - 71633462 71634086 - 19123937;11181995 645296 ABBA01038745;AC064799;AMYH01006753;CH471082;NG_010917 EAW77871 RPL17_14_1450;hCG2004593 APPROVED pseudo 36427 INFERRED 2304381 RPL17P41 ribosomal protein L17 pseudogene 41 17 17 17 q24.2 62352890 62353505 + 63211331 63211883 + 65780824 65781444 + 19123937 100132645 ABBA01028983;AC006534;AMYH01008585;NG_010200 RPL17_26_1572 pseudo 36292 INFERRED 2304714 RPL17P42 ribosomal protein L17 pseudogene 42 17 17 17 q12 30957063 30957582 + 34046926 34047445 + 34046926 34047445 + 19123937 100271418 ABBA01011234;AC006237;AMYH01008354;NG_010307 RPL17_25_1540 pseudo 36749 INFERRED 2304487 RPL17P43 ribosomal protein L17 pseudogene 43 17 17 17 p11.2 16813039 16813699 + 19339110 19341606 + 19400217 19400877 + 19123937 729259 ABBA01054606;AC004448;AMYH01008233;NG_010892 RPL17_24_1526 pseudo 35996 INFERRED 2304718 RPL17P45 ribosomal protein L17 pseudogene 45 18 18 18 q12.3 34535111 34535689 - 37723890 37724468 - 37723890 37724468 - 19123937 100271414 ABBA01022390;AC104209;AMYH01008951;NG_010285 RPL17_16_1598 pseudo 35618 INFERRED 2304713 RPL17P46 ribosomal protein L17 pseudogene 46 18 18 18 q21 45206692 45207219 + 48349947 48350474 + 48349947 48350474 + 19123937 100271419 ABBA01018676;AC015864;AMYH01008999;NG_010313 RPL17_27_1601 pseudo 36202 INFERRED 2304717 RPL17P47 ribosomal protein L17 pseudogene 47 19 19 19 p13.2 12147581 12148075 - 12253196 12253690 - 12253196 12253690 - 19123937 100271415 ABBA01029806;AC022415;AMYH01009489;NG_010292 RPL17_17_1624 pseudo 36089 INFERRED 7240983 RPL17P50 ribosomal protein L17 pseudogene 50 729046 ABBA01020344;AL731563;AMYH01002824;NG_022148 1656608;2161935 D10S2287;RH17681 pseudo 45098 INFERRED 2304716 RPL17P48 ribosomal protein L17 pseudogene 48 20 20 20 q13.33 57348488 57349074 - 60612457 60613043 - 60612457 60613043 - 19123937 100271416 ABBA01040110;AL137077;AMYH01012042;NG_010297 RPL17_19_1717 pseudo 36997 INFERRED 2304765 RPL17P49 ribosomal protein L17 pseudogene 49 X X X p22.2 16528068 16528478 - 12413876 12414286 - 12413876 12414286 - 19123937 100271388 ABBA01070996;AC112499;AMYH01022088;NG_010144;NG_016419 RPL17_20_1764 pseudo 37009 INFERRED 2304145 RPL17P5 ribosomal protein L17 pseudogene 5 1 1 1 p22.3 85493944 85494574 + 87023138 87025791 + 87250561 87251185 + 19123937 388132 ABBA01045611;AL049597;AMYH01000767;NG_011404 RPL17_2_69 pseudo 35491 16806 INFERRED 2304345 RPL17P7 ribosomal protein L17 pseudogene 7 1 1 1 p13.3 107804290 107804913 + 109317093 109337041 + 109534858 109535493 + 19123937;11181995 100132742 ABBA01068358;AC011645;AMYH01000928;BX679664;CH471122;NG_010702 EAW56352;EAW56353 1723233 RH122300 RPL17L;RPL17_3_82 APPROVED pseudo 36005 INFERRED 2305677 RPL17P8 ribosomal protein L17 pseudogene 8 1 1 1 q32.1 178306513 178307127 + 203437942 203438507 + 205171285 205171899 + 19123937 730255 ABBA01027427;AC093422;AMYH01001667;NG_010750 RPL17_4_153 pseudo 35651 INFERRED 2304413 RPL17P9 ribosomal protein L17 pseudogene 9 1 1 1 p36.11 25178309 25178966 - 26653663 26654304 - 26781090 26781751 - 19123937 729301 ABBA01034910;AL513365;AMYH01000401;NG_011099;NG_029786 RPL17_1_25 pseudo 36230 INFERRED 2304391 RPL17P6 ribosomal protein L17 pseudogene 6 1 1 1 p31.1 75834162 75834792 + 77366633 77367995 + 77594759 77595388 + 19123937;11181995 645441 ABBA01074403;AC113935;AMYH01000719;CH471059;NG_010347 EAX06384;EAX06385 RPL17_1_64 pseudo 36520 INFERRED 2305100 RPL17P44 ribosomal protein L17 pseudogene 44 18 18 18 q21.33 56802120 56802733 + 58233889 58234443 + 60082877 60083490 + 19123937 100129584 ABBA01056193;AC100843;AMYH01009048;NG_010256 RPL17_28_1610 pseudo 36396 INFERRED 1348264 RPL18AP1 ribosomal protein L18a pseudogene 1 14 14 14 q32.12 73743919 73744544 - 92759548 92760357 - 93689895 93690521 - 19123937 326289 ABBA01030434;AL132838;AMYH01005965;NG_002542 RPL18A_3_1401 pseudo 19778 INFERRED 2304891 RPL18AP10 ribosomal protein L18a pseudogene 10 7 7 7 p14.1-p13 43303681 43304104 + 43313758 43314181 + 43313758 43314181 + 19123937 100271285 AACC02000040;ABBA01058182;AC004692;AMYH01017204;CH236951;NG_010938 RPL18A_4_806 pseudo 35885 INFERRED 2304469 RPL18AP12 ribosomal protein L18a pseudogene 12 17 17 17 q21 32342044 32342656 + 35519495 35520107 + 35519494 35520110 + 19123937 100271604 ABBA01012440;AC016482;AMYH01008361;NG_011264;NG_023295 RPL18A_7_1543 pseudo 36991 INFERRED 2304351 RPL18AP11 ribosomal protein L18a pseudogene 11 9 9 9 p24.1 8647654 8648271 + 8703282 8703909 + 8713276 8713894 + 19123937 100127999 ABBA01065358;AL583805;AMYH01019220;NG_011326 RPL18A_5_961 pseudo 36661 INFERRED 2305723 RPL18AP13 ribosomal protein L18a pseudogene 13 19 19 19 p13.2 11527491 11528108 + 11493783 11494313 + 11632746 11633365 + 19123937 646189 ABBA01029844;AC008481;AMYH01009487;NG_010245 RPL18A_8_1622 pseudo 36739 INFERRED 2304712 RPL18AP14 ribosomal protein L18a pseudogene 14 X X X q22.3 104523094 104523710 + 104048557 104049173 + 104048549 104049177 + 19123937 100271420 ABBA01018998;AMYH01022810;NG_010318;NG_012566;Z70224 RPL18A_9_1800 pseudo 36624 INFERRED 2304642 RPL18AP16 ribosomal protein L18a pseudogene 16 X X X q28 153161268 153161880 + 152580778 152581390 + 152927582 152928196 + 19123937;11181995;8661155 347544 ABBA01045371;AMYH01023296;CH471172;NG_006952;U52111 EAW72846 RPL18A_10_1821 pseudo 36288 INFERRED 6481502 RPL18AP17 ribosomal protein L18a pseudogene 17 13 73034264 73034465 - 100873859 ABBA01050331;AL139003;AMYH01005200;NG_032359 pseudo 39850 INFERRED 1351963 RPL18AP2 ribosomal protein L18a pseudogene 2 21 21 q22.3 32953585 32954131 - 47840411 47840957 - 387494 ABBA01021766;AMYH01012340;AP000336;NG_009884 pseudo 23774 INFERRED 2305372 RPL18AP15 ribosomal protein L18a pseudogene 15 X X X q23 111347013 111347622 - 110754064 110757926 - 110867391 110868001 - 19123937 392522 AL096764;AMYH01022842;NG_010399 2126142 DXS7355 RPL18A_4_1802 pseudo 36010 INFERRED 2303441 RPL18AP3 ribosomal protein L18a pseudogene 3 12 12 12 q23.3 104322748 104323363 + 103183171 103183881 + 104659052 104659669 + 19123937 390354 ABBA01053204;AC089983;AMYH01004712;NG_029391;NG_029392 RPL18A_6_1273;bcm182 pseudo 31387 VALIDATED 2305792 RPL18AP5 ribosomal protein L18a pseudogene 5 1 1 1 p36.11 25900392 25901009 + 27368069 27376355 + 27503204 27503821 + 19123937 729955 ABBA01034956;AL590640;AMYH01000422;NG_009594 RPL18A_1_27 pseudo 36777 VALIDATED 2305824 RPL18AP4 ribosomal protein L18a pseudogene 4 1 1 1 p35.1 31714141 31714755 + 33218133 33218831 + 33445508 33446126 + 19123937;11181995 127545 ABBA01023388;AL355864;AMYH01000476;CH471059;NG_010303 EAX07488 RPL18A_2_30 pseudo 36556 INFERRED 2304752 RPL18AP6 ribosomal protein L18a pseudogene 6 2 2 2 p16.3 47756455 47757069 - 47771283 47771938 - 47917806 47918422 - 19123937 285053 ABBA01075170;AC079250;AMYH01010327;NG_010647 RPL18A_1_215 pseudo 36266 INFERRED 2305828 RPL18AP7 ribosomal protein L18a pseudogene 7 3 3 3 p22.2 38504163 38504776 - 38543294 38543820 - 38568237 38568853 - 19123937 100133038 ABBA01024819;AMYH01013093;AP006241;NG_010905 RPL18A_2_364 pseudo 35607 INFERRED 1347701 RPL18P1 ribosomal protein L18 pseudogene 1 14 14 14 q21.3 28819280 28819850 + 48028749 48029519 + 48959100 48959670 + 19123937;17903297;20125193 326291 ABBA01018101;AL512359;AMYH01005710;NG_002543 RPL18_7_1361 pseudo 19673 INFERRED 2304890 RPL18P10 ribosomal protein L18 pseudogene 10 13 13 13 q14 31728074 31728615 + 50673470 50674011 + 50673470 50674011 + 19123937 100271286 ABBA01051035;AL137060;NG_010943 RPL18_6_1311 pseudo 35957 INFERRED 2304751 RPL18P11 ribosomal protein L18 pseudogene 11 15 15 15 q25.1 55889817 55890450 - 76740438 76741775 - 78953350 78953983 - 19123937 390612 ABBA01060591;AC067863;AMYH01006835;NG_011096 RPL18_4_1455 pseudo 35742 INFERRED 2304750 RPL18P12 ribosomal protein L18 pseudogene 12 16 16 16 p13.3 3752948 3753589 + 3485884 3486784 + 3546168 3546809 + 19123937 390671 ABBA01026740;AC004224;AMYH01007094;NG_010057 RPL18_8_1468 pseudo 36115 INFERRED 2305620 RPL18AP8 ribosomal protein L18a pseudogene 8 3 3 3 q11.2 94726805 94727410 + 97819033 97821365 + 96338113 96338718 + 19123937;23251661 644082 ABBA01026947;AC117444;AMYH01013346;NG_011252 1735226;5023539 D3S2893E;PMC316374P5 RPL18A_3_387 pseudo 36984 INFERRED 2305883 RPL18P13 ribosomal protein L18 pseudogene 13 16 16 16 q23.1 60571356 60571995 - 74826441 74827022 - 76268915 76269554 - 19123937 441775 ABBA01017049;AC010528;AMYH01007821;NG_010911 RPL18_5_1500 pseudo 35599 INFERRED 2305338 RPL18P3 ribosomal protein L18 pseudogene 3 5 5 5 q23.1 116906104 116906753 + 120979841 120980468 + 120951910 120952559 + 19123937 100129374 ABBA01068965;AC106806;AMYH01015580;NG_010491 RPL18_2_608 pseudo 35783 INFERRED 2304870 RPL18P4 ribosomal protein L18 pseudogene 4 7 7 7 q31.31 115890047 115890496 - 120868124 120951744 - 121080866 121081315 - 19123937;12690205 392979 AACC02000001;ABBA01057759;AC074085;AMYH01017897;CH236947;NG_009449 EAL24345 RPL18_1_838 pseudo 36144 INFERRED 2305221 RPL18P2 ribosomal protein L18 pseudogene 2 1 1 1 q25.3 155408707 155409307 + 180564216 180564816 + 182297593 182298193 + 19123937 100129421 ABBA01027769;AL513480;AMYH01001547;NG_010738 RPL18_1_137 pseudo 35759 INFERRED 2305287 RPL18P5 ribosomal protein L18 pseudogene 5 7 7 7 q33 131587698 131588315 + 136848778 136849395 + 136848778 136849395 + 19123937 100270944 AACC02000025;ABBA01001140;AC009517;AMYH01017963;CH236950;NG_010496 RPL18_3_852 pseudo 36425 INFERRED 2305565 RPL18P6 ribosomal protein L18 pseudogene 6 8 8 8 q23.2 107098812 107102799 - 110980573 110984558 - 110911397 110915382 - 19123937 100131333 ABBA01037718;AC023245;AMYH01018960;NG_009990 RPL18_2_942 pseudo 35528 INFERRED 2305286 RPL18P7 ribosomal protein L18 pseudogene 7 8 8 q23.3 110575444 110576098 + 114388865 114389519 + 19123937 100270945 ABBA01037754;AC107890;AMYH01018969;NG_010500 1335686;1679221 D8S555;SHGC-1966 RPL18_4_944 pseudo 35936 INFERRED 2304970 RPL18P8 ribosomal protein L18 pseudogene 8 11 11 11 p12 39337289 39337822 + 39123231 39140093 + 39182990 39183523 + 19123937 100129670 ABBA01060825;AC021723;AMYH01003510;NG_010700 1341045;1706172;1729216 D11S4148;D11S871;SHGC-80610 RPL18_5_1138 pseudo 36878 INFERRED 2304974 RPL18P9 ribosomal protein L18 pseudogene 9 12 12 12 p13.32 5840691 5851152 - 4088923 4099382 - 4218662 4229121 - 19123937 100129645 ABBA01048771;AC007207;AMYH01004195;NG_010566 1662352;1726025;2170663 G10146;G62286;U23913 RPL18_3_1196 pseudo 36766 INFERRED 733020 RPL14 ribosomal protein L14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 3 p22-p21.2 40441631 40446697 + 40473805 40478863 + 40498783 40503863 + 1580863;6480464 9480843;11369516;18697920;15189156;18029348;14567916;17081983;15635413;15489334;12962325;12477932;11875025;11790298;11401437;9417904;8722009;8549859;8325628;8244780;8125298;21145461;21319273;21182205;22863883;22939629;16196087;21139048;21890473;21906983;21963094;22178446;12777385;15303970;15717329;21726808;21900206;21942715;8889548;17620599;22354994;22586326;21628590;22505724 9045 E7EPB3;F8WDZ7;Q9BW65 AB046407;AB061822;ABBA01024791;AC104186;AK222750;AK223111;AK290674;AK292045;AMYH01013101;BC000606;BC005134;BC009294;BC016379;BC019651;BC022805;BC029036;BC071913;BG564298;BG776586;BU686905;CD298951;CH471055;D87735;DQ118667;L10376;NM_001034996;NM_003973;U16738;U92982 AAC16021;AAH00606;AAH05134;AAH09294;AAH16379;AAH19651;AAH22805;AAH29036;AAH71913;AAZ38460;ABM82847;ABM86031;BAA13443;BAB21253;BAB79460;BAD96470;BAD96831;BAF83363;BAF84734;EAW64606;EAW64607;EAW64608;EAW64609;NP_001030168;NP_003964;P50914 Hs.446522 1679640;1743187;2160057;5016602;5016969;5119176 D0S17713;G64294;GDB:293939;RH67861;RH71334;RH78270 CAG-ISL-7;CTG-B33;L14;MGC88594;RL14;hRL14 60S ribosomal protein L14;OTTHUMP00000209120;OTTHUMP00000209139;OTTHUMP00000209259 APPROVED protein-coding ENSG00000188846 10305 10617 VALIDATED 2305284 RPL19P10 ribosomal protein L19 pseudogene 10 5 5 q34 166804522 166805217 - 170771971 170772666 - 19123937 100270948 ABBA01044081;AC091980;AMYH01015806;NG_010516 1852716 WI-16216 RPL19_3_638 pseudo 36534 INFERRED 2305283 RPL19P11 ribosomal protein L19 pseudogene 11 5 5 p13.3 30934371 30935096 + 31053630 31054355 + 19123937 100270950 ABBA01066714;AC026421;AMYH01014991;NG_010524 RPL19_6_547 pseudo 36953 INFERRED 1352268 RPL19P1 ribosomal protein L19 pseudogene 1 20 20 20 p13 2825778 2826205 + 2709160 2709787 + 2761261 2761688 + 19123937 140759 ABBA01053798;AL035460;AMYH01011669;NG_001002 RPL19_11_1678;dJ860F19.2 pseudo 16595 INFERRED 736821 RPL15 ribosomal protein L15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15E family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Although this gene has been referred to as RPL10, its official symbol is RPL15. This gene has been shown to be overexpressed in some esophageal tumors compared to normal matched tissues. Alternate splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Nov 2011] 3 3 3 p24.2 23894829 23898524 + 23933643 23937338 + 23958295 23965187 + 6480464 9582194;15189156;14567916;16608517;15635413;15489334;12477932;11875025;11790298;11223259;9110174;8722009;1538749;16169070;21145461;19834535;21509594;22863883;22939629;12777385;15161933;15303970;12962325;21612406;16344560;22586326;17620599;18781797;20639865;20972266;21139048;21890473;21906983;21963094;21987572;22178446;17361185;21628590;22779921;21252943;15064750;23084401;22505724 6138 E7ENU7;E7EQV9;E7ERA2;E7EX53;Q9H2E5 AB007173;AB061823;ABBA01025038;ABBA01025039;AC124914;AF279903;AF283772;AK098795;AK129815;AK290694;AK292000;AK293709;AK297091;AMYH01013030;AY347528;BC014837;BC068198;BC070328;BC071672;BC081565;BE893727;BT019672;BU178524;CH471055;DA037869;DA205054;DB461802;DC351786;L25899;NM_001253379;NM_001253380;NM_001253382;NM_001253383;NM_001253384;NM_002948 AAA36583;AAG15591;AAG44837;AAH14837;AAH68198;AAH70328;AAH71672;AAH81565;AAQ24859;AAV38478;BAA25833;BAB79461;BAF83383;BAF84689;BAG57142;BAG59606;EAW64337;EAW64338;EAW64339;NP_001240308;NP_001240309;NP_001240311;NP_001240312;NP_001240313;NP_002939;P61313 Hs.381219;Hs.592455 1735274;1772234;2183061;5015503;5016478;5020881;5022463;5022578;5022582;5022651;5037552;5113964;5113966;5122985 D11S2921;D1S1423;D22S1016E;D3S1673;D3S2926E;D3S3953;D8S2279;G19699;GDB:434012;L17709;RH15656;RH66851;SHGC-76774;SHGC-76808 EC45;FLJ26304;L15;MGC88603;RPL10;RPLY10;RPYL10 60S ribosomal protein L15;OTTHUMP00000161052;OTTHUMP00000208329;OTTHUMP00000208330;OTTHUMP00000208331;OTTHUMP00000208333;OTTHUMP00000208399;OTTHUMP00000208401;OTTHUMP00000208402 APPROVED protein-coding ENSG00000174748 10306 16043 604174 REVIEWED 2305220 RPL19P12 ribosomal protein L19 pseudogene 12 7 7 7 q22.1 97589619 97590751 - 102569032 102570086 - 102781717 102782850 - 6480464 19123937 100129424 ABBA01057995;AC007683;AMYH01017810;AW373666;CD709306;NR_026660 Hs.720729 RPL19_4_829 pseudo 36047 VALIDATED 2305596 RPL19P13 ribosomal protein L19 pseudogene 13 8 8 8 p23.1 10241518 10242206 + 11150939 11151585 + 11113499 11114187 + 19123937 392193 ABBA01026882;AC100809;AMYH01018480;NG_009963 RPL19_8_875 pseudo 36879 INFERRED 2305282 RPL19P14 ribosomal protein L19 pseudogene 14 8 8 q22.2 95980042 95980740 + 99794240 99794938 + 19123937 100270951 ABBA01037543;AMYH01018918;AP003551;NG_010531 RPL19_9_931 pseudo 35684 INFERRED 2305686 RPL19P16 ribosomal protein L19 pseudogene 16 10 10 10 q26.12 116624773 116625511 - 122882515 122883506 - 122892530 122893268 - 19123937 646255 ABBA01062864;AC024599;AMYH01003126;NG_010575 RPL19_5_1105 pseudo 36596 INFERRED 2304889 RPL19P17 ribosomal protein L19 pseudogene 17 12 12 12 p13 17865201 17865875 - 12721058 12721732 - 12721058 12721732 - 19123937 100271287 ABBA01067844;AC092824;AMYH01004291;NG_010951 RPL19_6_1208 pseudo 36829 INFERRED 2304888 RPL19P18 ribosomal protein L19 pseudogene 18 17 17 17 p12 9525489 9526184 - 9493137 9493832 - 9493137 9493832 - 19123937 100271288 ABBA01054956;AC087501;AMYH01008099;NG_010954 RPL19_7_1512 pseudo 36121 INFERRED 2305471 RPL19P19 ribosomal protein L19 pseudogene 19 19 19 19 q13.43 55507932 55508640 - 63156298 63157704 - 58464455 58465163 - 19123937 646820 ABBA01020789;AC010326;AMYH01010031;NG_010859 RPL19_8_1674 pseudo 36194 INFERRED 2305116 RPL19P15 ribosomal protein L19 pseudogene 15 9 9 9 q34.12 104065691 104066384 + 132505111 132517591 + 133527158 133527851 + 19123937 642306 ABBA01012053;AL359092;AMYH01021771;NG_009968 RPL19_10_1014 pseudo 35920 INFERRED 2303447 RPL19P2 ribosomal protein L19 pseudogene 2 3 3 p14.3 57133688 57134387 + 57168131 57168830 + 19123937 654382 ABBA01024426;AC097358;AMYH01013216;NG_009531 RPL19_3_373 pseudo 29946 INFERRED 2305480 RPL19P20 ribosomal protein L19 pseudogene 20 X X X p11.3 48645138 48645843 + 44389979 44393909 + 44508339 44509044 + 19123937 392451 ABBA01046339;AL136137;AMYH01022241;NG_009975 RPL19_12_1775 pseudo 35713 INFERRED 2305332 RPL19P3 ribosomal protein L19 pseudogene 3 1 1 1 p31.3 62544186 62544879 - 64026974 64027563 - 64254312 64255005 - 19123937 100131759 ABBA01074566;AL161742;AMYH01000677;NG_010913;NG_032801 RPL19_1_59 pseudo 36671 INFERRED 2305371 RPL19P21 ribosomal protein L19 pseudogene 21 X X X q28 150409791 150410496 + 149912632 149913222 + 150161938 150162643 + 19123937 392557 ABBA01037181;AF003626;AMYH01023219;NG_010567 1793850 PMC299900P1 RPL19_13_1819 pseudo 35868 INFERRED 1347180 RPL17 ribosomal protein L17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010] 18 18 18 q21 43870209 43874262 - 45268852 45272904 - 47014851 47018935 - 1580863;6480464 15189156;15635413;15489334;12962325;12761501;12477932;11875025;11790298;9582194;8722009;2402465;16169070;8889549;17267499;21145461;21182205;22863883;23184937;23084401;22939629;16196087;12777385;18457437;19596686;20639865;21890473;21900206;21906983;21907836;22145905;22178446;17361185;22174317;22505724 6139 J3KRB3;J3KRX5;J3KSJ0;J3QLC8;J3QQT2;J3QS96;P18621 AA148652;AB007174;AB061824;ABBA01018653;AC100778;AK304659;AK311720;AK311828;AMYH01008990;BC000502;BC017831;BC066323;BC066324;BC106031;BF670086;BG497914;BG758380;BG827384;BI086293;BQ877039;BQ882430;CB178432;CD386294;CD387752;CH236953;CH471096;NM_000985;NM_001035006;NM_001199340;NM_001199341;NM_001199342;NM_001199343;NM_001199344;NM_001199345;X53777 AAH00502;AAH17831;AAH66323;AAH66324;AAI06032;ABM83128;ABM86324;BAA25834;BAB79462;BAG34770;BAG65434;CAA37793;EAW62940;EAW62941;EAW62942;EAW62943;EAW62944;EAW62945;NP_000976;NP_001030178;NP_001186269;NP_001186270;NP_001186271;NP_001186272;NP_001186273;NP_001186274;P18621 Hs.293653;Hs.374588;Hs.485081 2126975;5123188 D17S1714;D18S1247 FLJ18762;FLJ92089;L17;MGC117162;PD-1;rpL23 60S ribosomal protein L17;60S ribosomal protein L23;PD-1;gene encoding putative NFkB activating protein APPROVED protein-coding ENSG00000215472;ENSG00000265681 10307 04715 603661 REVIEWED 2305510 RPL19P4 ribosomal protein L19 pseudogene 4 2 2 2 q21.1 124324702 124325392 + 130762584 130768448 + 131051362 131052052 + 19123937 646710 ABBA01017954;AC068137;AMYH01011053;NG_010288 RPL19_1_276 pseudo 36539 INFERRED 2305494 RPL19P7 ribosomal protein L19 pseudogene 7 3 3 3 q12 96730621 96731241 + 99795454 99822155 + 98338920 98339540 + 19123937 100131527 ABBA01026928;AC021660;AMYH01013351;NG_011033 1784580 SHGC-111383 RPL19_4_388 pseudo 36088 INFERRED 2305285 RPL19P6 ribosomal protein L19 pseudogene 6 3 3 q23 140185920 140186601 - 141762386 141763067 - 19123937 100270946 AC133435;AMYH01013546;NG_010507 RPL19_2_411 pseudo 36795 INFERRED 1344772 RPL21P1 ribosomal protein L21 pseudogene 1 12 12 12 q24.31 122439781 122440731 + 121415145 121416299 + 122849289 122850221 + 7940018 6145 ABBA01060471;AC079406;AMYH01004825;NG_000868;NG_030352;X63773 RPL21P pseudo 10314 INFERRED 2305736 RPL19P8 ribosomal protein L19 pseudogene 8 4 4 4 q34.3 176535940 176536633 + 179444843 179445433 + 179207825 179208518 + 19123937;22747683 391719 ABBA01070439;AC095041;AMYH01014742;NG_010214 RPL19_5_537 pseudo 36696 INFERRED 2305720 RPL19P9 ribosomal protein L19 pseudogene 9 5 5 5 q35.3 173110139 173110835 + 177414996 177415888 + 177482573 177483269 + 19123937 653314 ABBA01009980;AC136632;AMYH01015936;NG_009970 1852716 WI-16216 RPL19_7_643 pseudo 35918 INFERRED 2304703 RPL21P100 ribosomal protein L21 pseudogene 100 12 12 12 p13.2 17451211 17451792 + 12308157 12308738 + 12308157 12308738 + 19123937 100271430 ABBA01067829;AC007537;AMYH01004288;NG_010370;NG_016168 RPL21_42_1206 pseudo 36048 INFERRED 2304702 RPL21P101 ribosomal protein L21 pseudogene 101 12 12 12 q12 42758691 42759261 - 43954569 43955139 - 43954569 43955139 - 19123937 100271431 ABBA01031416;AC090525;AMYH01004412;NG_010382 RPL21_42_1230 pseudo 35733 INFERRED 1353396 RPL21P10 ribosomal protein L21 pseudogene 10 14 14 14 q24.3 58188049 58188882 - 77219132 77220216 - 78149537 78150370 - 19123937 319143 ABBA01030646;AC008044;AMYH01005884;NG_002519 5115304 G35523 RPL21_49_1395 pseudo 19795 INFERRED 2305584 RPL19P5 ribosomal protein L19 pseudogene 5 2 2 2 q35 212985375 212985958 + 218918361 218929758 + 219218765 219219348 + 19123937 646532 ABBA01023872;AC021016;AMYH01011494;NG_010688 2109525;2179899 HSC2KC082;MR-_1_9437 RPL19_2_325 pseudo 36325 INFERRED 2304701 RPL21P102 ribosomal protein L21 pseudogene 102 12 12 12 p12.1 29942485 29943030 + 24795587 24796132 + 24795587 24796132 + 19123937 100271432 ABBA01068006;AC087312;AMYH01004335;NG_010386 RPL21_43_1219 pseudo 36295 INFERRED 2304700 RPL21P103 ribosomal protein L21 pseudogene 103 12 12 12 q14.1 58307295 58307855 + 58638127 58638687 + 58638127 58638687 + 19123937 100271433 ABBA01026685;AC079034;AMYH01004526;NG_010392 RPL21_44_1241 pseudo 36732 INFERRED 2304698 RPL21P104 ribosomal protein L21 pseudogene 104 12 12 12 q14.1 61839160 61839710 + 62169663 62170212 + 62169663 62170212 + 19123937 100271435 ABBA01026643;AC137053;AMYH01004534;NG_010402 RPL21_45_1243 pseudo 36918 INFERRED 2305223 RPL21P105 ribosomal protein L21 pseudogene 105 12 12 12 q24.22 116822701 116823265 - 115677531 115678462 - 117193158 117193722 - 19123937;22118674 728693 ABBA01020022;AC090013;AMYH01004779;NG_009699 RPL21_43_1282 pseudo 36304 INFERRED 2305915 RPL21P106 ribosomal protein L21 pseudogene 106 12 12 12 q21.33 92233423 92233974 + 91086307 91086787 + 92562142 92562693 + 19123937 643264 ABBA01053398;AC025164;AMYH01004654;NG_009728 1746529 G64460 RPL21_48_1266 pseudo 36188 INFERRED 2305228 RPL21P107 ribosomal protein L21 pseudogene 107 13 13 13 q34 92261172 92261694 - 110213019 110214070 - 111414991 111415523 - 19123937 644627 ABBA01026991;AL157875;AMYH01005379;NG_009801 RPL21_46_1336 pseudo 36313 INFERRED 2304699 RPL21P108 ribosomal protein L21 pseudogene 108 13 13 13 q22.1 55851511 55851869 - 74951730 74952088 - 74951730 74952088 - 19123937 100271434 ABBA01050359;AL355390;AMYH01005209;NG_010398 RPL21_44_1324 pseudo 35496 INFERRED 2304697 RPL21P109 ribosomal protein L21 pseudogene 109 13 13 13 q22 53180332 53180885 + 72278272 72278825 + 72278272 72278825 + 19123937 100271437 ABBA01050327;AL138698;AMYH01005197;NG_010414;NG_011849 RPL21_49_1320 pseudo 36388 INFERRED 1344889 RPL21P11 ribosomal protein L21 pseudogene 11 14 14 14 q32.11 70880131 70880718 - 89902650 89903409 - 90832979 90833566 - 19123937 157206 ABBA01030501;AL161662;AL512791;AMYH01005946;NG_002488 RPL21_50_1399 pseudo 19800 INFERRED 2304694 RPL21P113 ribosomal protein L21 pseudogene 113 15 15 15 q21 36229548 36229882 - 59341598 59341932 - 59341598 59341932 - 19123937 100271440 ABBA01038971;AC092757;AMYH01006683;NG_010430 RPL21_51_1437 pseudo 36563 INFERRED 2305490 RPL21P112 ribosomal protein L21 pseudogene 112 13 13 q32.1 76260718 76261257 - 95412768 95413307 - 19123937 100270753 ABBA01027204;AL137061;AMYH01005302;NG_009638 RPL21_45_1329 pseudo 36526 INFERRED 2304695 RPL21P111 ribosomal protein L21 pseudogene 111 13 13 13 q31.1 60235595 60236147 + 79335269 79335821 + 79335269 79335821 + 19123937 100271439 ABBA01021683;AL354869;AMYH01005226;NG_010423 RPL21_51_1327 pseudo 36564 INFERRED 2304696 RPL21P110 ribosomal protein L21 pseudogene 110 13 13 13 q22.1 54176274 54176791 + 73277791 73278308 + 73277791 73278308 + 19123937 100271438 ABBA01050335;AL356754;AMYH01005200;NG_010419 RPL21_50_1323 pseudo 35627 INFERRED 2304691 RPL21P116 ribosomal protein L21 pseudogene 116 15 15 15 q24 56091879 56092438 - 79155554 79156113 - 79155554 79156113 - 19123937 100271444 ABBA01060597;AC103975;AMYH01006841;NG_010446 RPL21_55_1456 pseudo 36101 INFERRED 2304693 RPL21P114 ribosomal protein L21 pseudogene 114 15 15 15 q22.2 36705161 36705700 - 59817584 59818123 - 59817584 59818123 - 19123937 100271441 ABBA01038961;AC092754;AMYH01006685;NG_010434 RPL21_52_1438 pseudo 36776 INFERRED 2304692 RPL21P115 ribosomal protein L21 pseudogene 115 15 15 15 q22 49313274 49313727 + 72426943 72427396 + 72426943 72427396 + 19123937 100271443 ABBA01038737;AC020779;AMYH01006759;NG_010440 RPL21_54_1451 pseudo 35878 INFERRED 2304490 RPL21P117 ribosomal protein L21 pseudogene 117 15 15 15 q22.2 36732191 36732752 - 57632080 57632625 - 59844771 59845332 - 19123937 729241 ABBA01038961;AC092754;AMYH01006685;NG_009622 RPL21_53_1439 pseudo 35987 INFERRED 1348194 RPL21P12 ribosomal protein L21 pseudogene 12 14 14 14 q32.32 83669039 83669918 + 102684522 102685621 + 103614894 103615775 + 122409 ABBA01048434;AL161669;AMYH01006043;NG_002482 pseudo 19810 INFERRED 2304689 RPL21P118 ribosomal protein L21 pseudogene 118 16 16 16 q22.3 58660198 58660545 - 74346934 74347281 - 74346934 74347281 - 19123937 100271446 ABBA01005300;AC009120;AMYH01007808;NG_010453 RPL21_57_1497 pseudo 35954 INFERRED 2305579 RPL21P119 ribosomal protein L21 pseudogene 119 16 16 p13.2 9157686 9175439 - 9250199 9250778 - 19123937;22118674;23251661 653737 ABBA01019742;AC087190;AMYH01007141;NG_010884 RPL21_56_1471 pseudo 35614 INFERRED 2304690 RPL21P121 ribosomal protein L21 pseudogene 121 17 17 17 p11.2 19157530 19157916 + 18216459 18216845 + 18216459 18216845 + 19123937 100271445 ABBA01009733;AC127537;AMYH01008168;NG_010450 RPL21_56_1523 pseudo 36429 INFERRED 2304482 RPL21P120 ribosomal protein L21 pseudogene 120 17 17 17 p11.2 21148146 21148722 - 21348433 21349285 + 21407844 21408417 + 19123937;22118674 731688 ABBA01050469;AC138710;AC233702;AMYH01008269;NG_009668 RPL21_57_1527 pseudo 35743 INFERRED 2304688 RPL21P122 ribosomal protein L21 pseudogene 122 17 17 17 p12 11944600 11945138 - 11914033 11914571 - 11914033 11914571 - 19123937 100271447 ABBA01054999;AC005410;AMYH01008116;NG_010456 RPL21_58_1515 pseudo 36990 INFERRED 2304685 RPL21P124 ribosomal protein L21 pseudogene 124 17 17 17 q21 43932812 43933183 - 47477791 47478162 - 47477791 47478162 - 19123937 100271450 ABBA01041206;AC091180;AMYH01008467;NG_010469 RPL21_60_1556 pseudo 36060 INFERRED 2304687 RPL21P123 ribosomal protein L21 pseudogene 123 17 17 17 p11.2 24904370 24904776 - 28043297 28043703 - 28043297 28043703 - 19123937 100271448 ABBA01015011;AC104564;AMYH01008293;NG_010460 RPL21_59_1535 pseudo 35691 INFERRED 2304686 RPL21P126 ribosomal protein L21 pseudogene 126 18 18 18 q21.2 50020320 50020872 + 53303025 53303577 + 53303025 53303577 + 19123937 100271449 ABBA01056116;AC090383;AMYH01009019;NG_010465 1335246 D18S364 RPL21_59_1605 pseudo 35959 INFERRED 2305475 RPL21P128 ribosomal protein L21 pseudogene 128 18 18 18 q11.1 15504770 15505311 - 16953318 16953620 - 18699123 18699664 - 19123937;22118674 440487 ABBA01022697;AC022795;AMYH01008875;NG_010871 RPL21_62_1585 pseudo 36311 INFERRED 2304969 RPL21P125 ribosomal protein L21 pseudogene 125 17 17 17 p13.2 3582210 3582774 + 3515208 3515814 + 3568471 3569034 + 19123937;22118674 100129685 ABBA01054742;AC132942;AMYH01008032;NG_010788 RPL21_55_1506 pseudo 36039 INFERRED 2304683 RPL21P127 ribosomal protein L21 pseudogene 127 18 18 18 p11.3 3285887 3286435 - 3406308 3406856 - 3406308 3406856 - 19123937 100271452 ABBA01049851;AMYH01008780;AP001025;NG_010481 RPL21_61_1581 pseudo 36099 INFERRED 2304684 RPL21P129 ribosomal protein L21 pseudogene 129 19 19 19 p13 7686942 7687488 + 7815530 7816076 + 7815530 7816076 + 19123937 100271451 ABBA01010887;AC008812;AMYH01009412;NG_010476 RPL21_60_1619 pseudo 36747 INFERRED 1348658 RPL21P13 ribosomal protein L21 pseudogene 13 14 14 14 q32.32 83761895 83762448 + 102777502 102778191 + 103707789 103708342 + 19123937 319144 ABBA01048434;AL138976;AMYH01006043;NG_002520 RPL21_52_1410 pseudo 19812 INFERRED 2304682 RPL21P130 ribosomal protein L21 pseudogene 130 19 19 19 p13.2 17602035 17602574 - 17700379 17700918 - 17700379 17700918 - 19123937 100271453 AC010618;AMYH01009575;NG_010486 RPL21_63_1633 pseudo 36453 INFERRED 2304420 RPL21P131 ribosomal protein L21 pseudogene 131 19 19 19 q13.11 30773697 30774256 - 38771926 38772727 - 34080073 34080634 - 19123937;22118674 388532 ABBA01004312;AC010485;AMYH01009704;NG_010937 RPL21_64_1647 pseudo 36428 INFERRED 2304763 RPL21P132 ribosomal protein L21 pseudogene 132 X X X q22 101115038 101115384 + 100595578 100595924 + 100595578 100595924 + 19123937 100271390 ABBA01044973;AL035422;AMYH01022725;NG_010154 RPL21_62_1798 pseudo 35865 INFERRED 2304762 RPL21P133 ribosomal protein L21 pseudogene 133 X X X q26 134127993 134128552 + 133741142 133741701 + 133741142 133741701 + 19123937 100271391 ABBA01042461;AL672032;AMYH01022994;NG_010165 RPL21_63_1815 pseudo 36003 INFERRED 7174868 RPL21P135 ribosomal protein L21 pseudogene 135 3 37789562 37790426 + 100419391 ABBA01024842;AC093415;AMYH01013088;NG_025687 pseudo 44539 INFERRED 2305106 RPL21P134 ribosomal protein L21 pseudogene 134 X X X q13.3 74887483 74888040 + 74520862 74521446 + 74604141 74604698 + 19123937;22118674 728782 ABBA01059460;AL137013;AMYH01022615;NG_011068;NG_012974 RPL21_61_1788 pseudo 36006 INFERRED 2303445 RPL21P15 ribosomal protein L21 pseudogene 15 15 15 q22.31 41801032 41801488 - 64923276 64923732 - 19123937 654385 ABBA01038878;AC090543;AMYH01006711;NG_009532 HsT18206;RPL21_54_1444 pseudo 31030 INFERRED 2303316 RPL21P14 ribosomal protein L21 pseudogene 14 15 15 15 q22.1 36049762 36050310 + 56949110 56949628 + 59161818 59162366 + 19123937;22118674 729208 ABBA01038977;AC090515;AMYH01006682;NG_009507 HsT16795;RPL21_53_1436 pseudo 31029 INFERRED 2303332 RPL21P17 ribosomal protein L21 pseudogene 17 3 3 3 p26.3 1886876 1887397 + 1922335 1922812 + 1947332 1947853 + 19123937 727810 ABBA01020494;AC018814;AMYH01012936;NG_009372 RPL21_9_342 pseudo 19416 INFERRED 2303827 RPL21P18 ribosomal protein L21 pseudogene 18 12 12 12 q14.3 66096787 66097335 + 64717257 64717789 + 66430975 66431524 + 19123937 729484 ABBA01026579;AC135255;AMYH01004553;NG_009709 1739697;2151205;5119290 D12S1486;D12S1553;U27136 RPL21_46_1252 pseudo 28362 INFERRED 1350064 RPL21P16 ribosomal protein L21 pseudogene 16 10 10 10 q26.12 115845152 115845733 - 122104133 122104753 - 122114157 122114738 - 19123937;21145461;22118674;21628590 729402 ABBA01062878;AC073587;AMYH01003123;NG_009450 1728663 G63623 RPL21_38_1104 pseudo 31396 INFERRED 1353492 RPL21P2 ribosomal protein L21 pseudogene 2 20 20 20 p13 4102099 4102650 - 3988170 3988860 - 4040248 4040799 - 19123937 140715 ABBA01053845;AL356414;AMYH01011682;NG_000986 RPL21_65_1679;bA352D3.1 pseudo 16539 INFERRED 2304398 RPL21P20 ribosomal protein L21 pseudogene 20 1 1 1 p34.2 39081103 39081660 - 40571237 40574681 - 40798714 40799270 - 19123937;22118674 388621 ABBA01023178;AL031985;AMYH01000535;NG_010042 RPL21_3_36 pseudo 36582 INFERRED 2305762 RPL21P19 ribosomal protein L21 pseudogene 19 1 1 1 q32.1 177451322 177451863 - 202582408 202583211 - 204315885 204316426 - 19123937;21145461;21628590 641293 Q59GK9 AB209100;ABBA01027447;AL592114;AMYH01001662;NG_005331 BAD92337 Hs.679502 5014514;5015747 D11S4359;D13S1456 RPL21_7_151 pseudo 35748 INFERRED 1345925 RPL18A ribosomal protein L18a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012] 19 19 19 p13 17872445 17875838 + 17831727 17835124 + 17970687 17974133 + 1580863;6480464 11875025;9582194;17353931;15189156;14567916;17081983;16195786;16169070;15635413;15592455;15489334;15057824;12477932;11823430;8722009;8125298;7821789;7662174;1538749;17207965;18819927;21145461;22939629;12962325;16196087;22586326;12777385;16751776;19596686;18781797;21139048;21890473;21906983;21942715;22178446;21628590;15064750;15576338;21182205;22863883;21853274;22505724;22944692 6142 B4DM74;M0R0P7;M0R117;M0R1A7;M0R3D6;Q02543 AB007175;ABBA01051233;AC005796;AC007201;AK222647;AK297323;AK297358;AK300809;AK311774;AMYH01009578;AY779046;BC007512;BC066319;BC071920;BI753938;CH471106;D28393;DQ593295;HY050156;L05093;NM_000980;X80822 AAC18781;AAC62828;AAH07512;AAH66319;AAH71920;AAX47571;ADQ31956;ADZ15791;BAA05759;BAA28596;BAD96367;BAG34717;BAG59786;BAG59806;BAG62465;CAA56788;EAW84641;EAW84642;NP_000971;Q02543 Hs.337766 2135038;5013984;5024368;5024719 D14S105E;RH69992;RP_L18A;SHGC-30024 L18A 60S ribosomal protein L18a;ribosomal protein L18a-like protein APPROVED protein-coding ENSG00000105640 10311 16045 604178 REVIEWED 2305403 RPL21P21 ribosomal protein L21 pseudogene 21 1 1 p36.3 9225931 9226273 - 10114498 10114840 - 19123937 100270877 ABBA01035584;AL590639;AMYH01000242;NG_010149 RPL21_1_11 pseudo 35728 INFERRED 2305400 RPL21P24 ribosomal protein L21 pseudogene 24 1 1 p33 46249844 46250364 - 47963534 47964053 - 19123937 100270880 ABBA01050816;AL356458;AMYH01000595;NG_010168 RPL21_4_45 pseudo 35702 INFERRED 2305402 RPL21P22 ribosomal protein L21 pseudogene 22 1 1 p35.2 29837466 29838028 - 31580948 31581510 - 19123937 100270878 ABBA01023482;AC114495;AMYH01000454;NG_010153 RPL21_2_29 pseudo 36550 INFERRED 2305401 RPL21P23 ribosomal protein L21 pseudogene 23 1 1 pter-p22.1 55288898 55289443 + 57004084 57004629 + 19123937 100270879 ABBA01074681;AC099562;AMYH01000644;NG_010163 2163669 D1S2091 RPL21_2_54 pseudo 36205 INFERRED 2305399 RPL21P25 ribosomal protein L21 pseudogene 25 1 1 p33 47248985 47249464 - 48962929 48963408 - 19123937 100270881 ABBA01050801;AL356968;AMYH01000600;NG_010175 1708226 SHGC-79373 RPL21_5_46 pseudo 36785 INFERRED 1350158 RPL21P3 ribosomal protein L21 pseudogene 3 20 20 20 p11.23 18539952 18540794 + 18413909 18414696 + 18465869 18466711 + 128760 ABBA01054047;AL121893;AMYH01011743;NG_000976 1712214;2217794 G54014;POLR3F_3526 bA189K21.4 pseudo 16533 INFERRED 2305281 RPL21P27 ribosomal protein L21 pseudogene 27 1 1 q23 138750666 138751210 + 165645509 165646053 + 19123937 100270952 ABBA01047280;AL451074;AMYH01001471;NG_010535 RPL21_3_112 pseudo 36371 INFERRED 2305398 RPL21P26 ribosomal protein L21 pseudogene 26 1 1 p22-p21 93125610 93126145 - 94871943 94872478 - 19123937 100270882 ABBA01045509;AC118469;AMYH01000807;NG_010180 RPL21_6_74 pseudo 35910 INFERRED 2305604 RPL21P28 ribosomal protein L21 pseudogene 28 1 1 1 q32.3 185451910 185452475 - 210291405 210304669 - 212224828 212225393 - 19123937;22118674 100131205 ABBA01048185;AC092814;AL592297;AMYH01001703;CH471100;EC535637;EC565990;NR_026911 EAW93399 Hs.126774 5015747 D11S4359 RPL21_8_160 pseudo ENSG00000220749 36258 VALIDATED 733647 RPL18 ribosomal protein L18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 19 19 19 q13 45983453 45987298 - 53810400 53814245 - 49118584 49122675 - 1580863;6480464 14702039;22939629;21145461;21319273;8218404;15189156;14567916;16964243;16751257;15635413;15489334;12962325;12477932;11875025;11790298;9582194;8722009;7821789;14499622;19913121;20628086;15064750;23084401;20308691;16196087;21182205;22863883;15047060;12777385;18274552;18457437;18781797;19287380;20639865;20972266;21139048;21890473;21906983;21987572;22178446;17620599;21926972;17361185;21628590;19738201;19805454;21963094;21988832;22623428;23000965;23151878;23246001;22505724 6141 F8VUA6;F8VWC5;F8VXR6;F8VYV2;G3V203;H0YHA7;J3QQ67;Q07020 AB061825;ABBA01032981;AC022154;AI921565;AK026558;AK091257;AK293386;AMYH01009904;BC000374;BC009708;BC021743;BM764512;CD246847;CD389415;CH471177;D28461;DQ403032;L11566;NG_029867;NM_000979;NM_001270490;NR_073022 AAA16329;AAH00374;AAH09708;AAH21743;ABD77165;ABM82377;ABM85556;BAA05827;BAB79463;BAG56896;EAW52358;EAW52359;EAW52360;EAW52361;EAW52362;EAW52363;EAW52364;NP_000970;NP_001257419;Q07020 Hs.515517 2131322;2139059 RP_L18;SHGC-36947 L18 60S ribosomal protein L18;OTTHUMP00000242005;OTTHUMP00000242050;OTTHUMP00000242051;OTTHUMP00000242052;OTTHUMP00000242053;OTTHUMP00000242055;OTTHUMP00000242056 APPROVED protein-coding ENSG00000063177 10310 16046 604179 REVIEWED 2305365 RPL21P29 ribosomal protein L21 pseudogene 29 1 1 1 p36.12 20557484 20558040 + 22107135 22107710 + 22234551 22235107 + 19123937;22118674 440575 ABBA01059834;AL590556;AMYH01000341;NG_011325;NG_016740 RPL21_1_19 pseudo 35793 INFERRED 2305032 RPL21P31 ribosomal protein L21 pseudogene 31 2 2 q32 169512003 169512501 - 175898464 175898962 - 19123937 100271160 ABBA01062202;AC007435;AMYH01011284;NG_010296 RPL21_12_296 pseudo 36306 INFERRED 2305035 RPL21P30 ribosomal protein L21 pseudogene 30 2 2 p16.2 54097482 54097867 - 54256624 54257009 - 19123937 100271157 ABBA01075248;AC008280;AMYH01010357;NG_010278 RPL21_10_219 pseudo 36091 INFERRED 2305031 RPL21P32 ribosomal protein L21 pseudogene 32 2 2 q32.1 180417074 180417539 - 186821314 186821779 - 19123937 100271161 ABBA01062328;AC097500;AMYH01011330;NG_010300 RPL21_13_305 pseudo 36978 INFERRED 2305280 RPL21P33 ribosomal protein L21 pseudogene 33 2 2 p16.1 60922946 60923511 + 61079355 61079920 + 19123937 100270953 ABBA01075337;AC010733;AMYH01010379;NG_010539 RPL21_5_222 pseudo 36686 INFERRED 2305279 RPL21P34 ribosomal protein L21 pseudogene 34 2 2 q21 122281648 122282204 + 128975127 128975683 + 19123937 100270954 ABBA01040177;AC017079;AMYH01011028;NG_010548 RPL21_6_274 pseudo 36529 INFERRED 2305277 RPL21P36 ribosomal protein L21 pseudogene 36 2 2 p21 36362668 36363193 - 36526502 36527027 - 19123937 100270956 ABBA01074956;AC009414;AMYH01010253;NG_010557 RPL21_9_206 pseudo 36128 INFERRED 2305497 RPL21P37 ribosomal protein L21 pseudogene 37 2 2 2 p15 62604491 62605003 - 62613157 62613740 - 62759722 62760234 - 19123937;22118674 100129141 ABBA01075389;AC092155;AC107083;AMYH01010392;NG_009700 2128406 RH70013 RPL21_11_229 pseudo 35704 INFERRED 2305819 RPL21P39 ribosomal protein L21 pseudogene 39 3 3 3 q24 143962844 143963379 - 147024714 147025259 - 145542030 145542565 - 19123937;22118674 389156 ABBA01058989;AC055758;AMYH01013563;NG_009665 RPL21_14_415 pseudo 36127 INFERRED 2305278 RPL21P35 ribosomal protein L21 pseudogene 35 2 2 q37.1 226200942 226201490 + 232424559 232425108 + 19123937 100270955 ABBA01002056;AC104634;AMYH01011559;NG_010553 RPL21_8_333 pseudo 36900 INFERRED 1345186 RPL21P4 ribosomal protein L21 pseudogene 4 17 17 17 q21 37888134 37888689 + 38484884 38485375 + 41231278 41231833 + 6480464 19123937;8938427;21989022 140660 ABBA01006391;AC135721;AMYH01008402;L78833;NG_000980;NG_005905 RPL21_58_1548 pseudo 17959 INFERRED 2305529 RPL21P38 ribosomal protein L21 pseudogene 38 2 2 2 q31.1 166060122 166060678 + 172151032 172152330 + 172443560 172444116 + 19123937 100131481 ABBA01020727;AC064826;AMYH01011262;NG_010810 RPL21_7_292 pseudo 36349 INFERRED 2305029 RPL21P43 ribosomal protein L21 pseudogene 43 3 3 q26.2 166974931 166975481 - 168576410 168576960 - 19123937 100271163 ABBA01058718;AC092954;AMYH01013640;NG_010312 RPL21_15_434 pseudo 36008 INFERRED 2305034 RPL21P40 ribosomal protein L21 pseudogene 40 3 3 p22.3 32008237 32008794 + 32071646 32072203 + 19123937 100271158 ABBA01024947;AC094019;AMYH01013057;NG_010284 RPL21_10_356 pseudo 36189 INFERRED 2305030 RPL21P42 ribosomal protein L21 pseudogene 42 3 3 q25.2 152159104 152159645 + 153741585 153742126 + 19123937 100271162 ABBA01058873;AC068985;AMYH01013589;NG_010306 RPL21_13_421 pseudo 37017 INFERRED 2305033 RPL21P41 ribosomal protein L21 pseudogene 41 3 3 p14.1 66633402 66633795 + 66687573 66687966 + 19123937 100271159 ABBA01030868;AC104440;AMYH01013256;NG_010291 RPL21_11_380 pseudo 36765 INFERRED 2305027 RPL21P48 ribosomal protein L21 pseudogene 48 4 4 q23 96625072 96625618 + 99330401 99330947 + 19123937 100271165 ABBA01063655;AC058823;AMYH01014415;NG_010321 RPL21_17_503 pseudo 35891 INFERRED 2305683 RPL21P45 ribosomal protein L21 pseudogene 45 4 4 4 p14 38263100 38263657 + 37499335 37499917 + 37822943 37823500 + 19123937;22118674 727821 ABBA01074312;AC108022;AMYH01014113;NG_009653 RPL21_15_469 pseudo 35983 INFERRED 2305028 RPL21P47 ribosomal protein L21 pseudogene 47 4 4 q13.1 60572081 60572557 + 63114012 63114488 + 19123937 100271164 ABBA01022837;AC105313;AMYH01014225;NG_010317 RPL21_16_486 pseudo 36711 INFERRED 2304628 RPL21P46 ribosomal protein L21 pseudogene 46 4 4 4 p15.31 20272236 20272772 + 19424451 19425026 + 19815356 19815892 + 19123937;22118674 645174 ABBA01032637;AC114728;AMYH01014044;NG_009673 RPL21_14_463 pseudo 35687 INFERRED 2303329 RPL21P5 ribosomal protein L21 pseudogene 5 14 14 q12 11446249 11446979 - 31580759 31581489 - 641613 ABBA01061412;AL121808;AMYH01005639;NG_009393 pseudo 23541 INFERRED 2305026 RPL21P49 ribosomal protein L21 pseudogene 49 4 4 q24 100883006 100883541 + 103583738 103584273 + 19123937 100271166 ABBA01063702;AF213884;AMYH01014432;NG_011346;NG_012804 1726383 G62492 RPL21_18_504 pseudo 35769 INFERRED 2305025 RPL21P50 ribosomal protein L21 pseudogene 50 4 4 q28.1 122049362 122049916 - 124666868 124667422 - 19123937 100271167 ABBA01044759;AC096732;AMYH01014498;NG_010331 RPL21_18_516 pseudo 36433 INFERRED 2305023 RPL21P51 ribosomal protein L21 pseudogene 51 4 4 q32.3 163265571 163266130 - 165933478 165934037 - 19123937 100271169 ABBA01070289;AC106872;AMYH01014673;NG_010345 RPL21_20_533 pseudo 36081 INFERRED 2305787 RPL21P52 ribosomal protein L21 pseudogene 52 4 4 4 p12 47942127 47942684 - 47187739 47188171 - 47492963 47493520 - 19123937 100128351 ABBA01014336;AC107398;AMYH01014159;NG_009687 RPL21_16_474 pseudo 36621 INFERRED 2305797 RPL21P53 ribosomal protein L21 pseudogene 53 4 4 4 q28.1 126112779 126113345 - 128953236 128953861 - 128733829 128734395 - 19123937;22118674 653156 ABBA01044794;AC093591;AMYH01014509;NG_010520 RPL21_19_517 pseudo 36574 INFERRED 2305024 RPL21P54 ribosomal protein L21 pseudogene 54 5 5 p13.2 34765414 34765856 + 34883182 34883624 + 19123937 100271168 ABBA01039264;AC026801;AMYH01015022;NG_010337 RPL21_19_553 pseudo 35552 INFERRED 2305022 RPL21P55 ribosomal protein L21 pseudogene 55 5 5 q12.3 63902603 63903150 + 66904441 66904988 + 19123937 100271170 ABBA01048304;AC112206;AMYH01015139;NG_010351 RPL21_20_571 pseudo 36434 INFERRED 2305021 RPL21P56 ribosomal protein L21 pseudogene 56 5 5 p13.3 31720787 31721331 - 31840563 31841107 - 19123937 100271171 ABBA01066724;AC010469;AMYH01014993;NG_010357 RPL21_21_549 pseudo 35525 INFERRED 2305020 RPL21P57 ribosomal protein L21 pseudogene 57 5 5 q33.2 150185736 150186258 + 154108749 154109271 + 19123937 100271172 ABBA01026229;AC008379;AMYH01015730;NG_010361 RPL21_21_631 pseudo 36644 INFERRED 2305019 RPL21P58 ribosomal protein L21 pseudogene 58 5 5 q23.1 114836526 114837072 - 118882794 118883340 - 19123937 100271173 ABBA01068976;AC010409;AMYH01015576;NG_010365 RPL21_22_606 pseudo 35755 INFERRED 2305018 RPL21P59 ribosomal protein L21 pseudogene 59 5 5 q34 161369881 161370434 + 165332089 165332642 + 19123937 100271174 ABBA01044169;AC008489;AMYH01015775;NG_010369 1785348;1853063 AFMA119VG5;SHGC-112065 RPL21_22_635 pseudo 36922 INFERRED 2303345 RPL21P6 ribosomal protein L21 pseudogene 6 14 14 q22.3 35929644 35930206 - 55880258 55880820 - 19123937 652975 ABBA01018207;AL356801;AMYH01005747;NG_009398 RPL21_47_1368 pseudo 23542 INFERRED 2305017 RPL21P60 ribosomal protein L21 pseudogene 60 5 5 q35.3 171809040 171809588 - 176691727 176692275 + 19123937 100271175 ABBA01033461;AC146507;AMYH01015872;NG_010381 RPL21_23_641 pseudo 36044 INFERRED 2304631 RPL21P61 ribosomal protein L21 pseudogene 61 6 6 6 p22.3 20382300 20382842 + 19251880 19252391 + 19143884 19144426 + 19123937 645157 ABBA01022242;AL589647;AMYH01016125;NG_009666 1739697;2151205;2175505 D12S1486;U27136;WI-4990 RPL21_24_663 pseudo 36712 INFERRED 2305731 RPL21P62 ribosomal protein L21 pseudogene 62 6 6 6 p24.3 11442411 11442963 - 10322098 10322606 - 10214083 10214635 - 19123937 442160 ABBA01022075;AL354868;AMYH01016076;NG_009672 RPL21_23_656 pseudo 36843 INFERRED 2305016 RPL21P63 ribosomal protein L21 pseudogene 63 6 6 p24.2 11803446 11803973 - 10574945 10575472 - 19123937 100271176 ABBA01022080;AL139039;AMYH01016079;NG_010385 RPL21_24_657 pseudo 35526 INFERRED 2305015 RPL21P64 ribosomal protein L21 pseudogene 64 6 6 q22.33 129706621 129707086 - 128960333 128960798 - 19123937 100271177 ABBA01025919;AL080315;AMYH01016660;NG_010391 RPL21_25_752 pseudo 36259 INFERRED 2305014 RPL21P65 ribosomal protein L21 pseudogene 65 6 6 q21 107711209 107711748 + 107090295 107090834 + 19123937 100271178 ABBA01026193;AL390074;AMYH01016566;NG_010397 RPL21_26_729 pseudo 36017 INFERRED 2305013 RPL21P66 ribosomal protein L21 pseudogene 66 6 6 q23 133586787 133587307 - 132839950 132840470 - 19123937 100271179 ABBA01025878;AL513524;AMYH01016676;NG_010401 RPL21_26_756 pseudo 36476 INFERRED 2305012 RPL21P67 ribosomal protein L21 pseudogene 67 6 6 q23.2 132536788 132537337 + 131790159 131790708 + 19123937 100271180 ABBA01025892;AL445249;AMYH01016674;NG_010407 RPL21_27_754 pseudo 36139 INFERRED 2304390 RPL21P68 ribosomal protein L21 pseudogene 68 6 6 6 p22.2 26488709 26489268 + 25369093 25369937 + 25261427 25261986 + 19123937 645452 ABBA01066544;AL024509;AMYH01016158;NG_010409 RPL21_25_668 pseudo 35720 INFERRED 1346724 RPL21P7 ribosomal protein L21 pseudogene 7 14 14 q23.3 64803109 64803459 - 65733321 65734450 - 11181995;23349771 145370 ABBA01018384;AL355076;AL359236;AMYH01005803;CH471061;NG_002487 EAW80907 pseudo 19772 VALIDATED 2304634 RPL21P69 ribosomal protein L21 pseudogene 69 6 6 6 q25.3 160594237 160594792 - 159867010 159867595 - 159947046 159947599 - 19123937;22118674 642738 ABBA01021068;AL078604;AMYH01016800;NG_009725 RPL21_27_774 pseudo 36753 INFERRED 2305614 RPL21P70 ribosomal protein L21 pseudogene 70 2 2 2 p23.1 31356748 31357201 + 31347857 31367974 + 31514048 31514500 + 19123937 646489 ABBA01074852;AL121657;AMYH01010220;NG_011366 1334601;1847517;7185153 D2S1801;D2S352 RPL21_4_205 pseudo 37024 INFERRED 2305011 RPL21P72 ribosomal protein L21 pseudogene 72 7 7 7 p22.2 3346231 3346772 + 3377717 3378258 + 3377717 3378258 + 19123937 100271181 AACC02000053;ABBA01039403;AC092427;AMYH01016985;CH236953;NG_010413 RPL21_28_779 pseudo 37043 INFERRED 734460 RPL19 ribosomal protein L19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 q12 34610062 34614506 + 37356536 37360980 + 6480464 1577483;15189156;14567916;18676770;17244347;16609016;15489334;12477932;12149109;11401437;8722009;8125298;8095182;7789970;3542997;1598220;11875025;17620599;22586326;19799608;17207965;21145461;21319273;23084401;21182205;22863883;22939629;12962325;16196087;21396810;15161933;19850743;21799931;18781797;21139048;21890473;21906983;21907836;21963094;21987572;21044950;21628590;22053931;22505724 6143 J3KTE4;J3QL15;J3QR09;P84098 AB055766;ABBA01031881;AC004408;AK130962;AK223082;AK311858;AMYH01008374;AY157980;BC000530;BC013016;BC062709;BC066315;BC095445;BX537435;CH471152;CS185559;NM_000981;S56985;X63527;X82201 AAB25672;AAH00530;AAH13016;AAH62709;AAH66315;AAH95445;AAN76335;ABM82303;ACE86709;ACE87394;ADQ31681;BAB62860;BAD96802;BAG34799;CAA45090;CAD97677;CAJ42740;EAW60565;EAW60566;EAW60567;EAW60568;NP_000972;P84098 Hs.381061 5109703;5117050 DXS6985E;GDB:388558 DKFZp779D216;FLJ27452;L19;MGC71997 60S ribosomal protein L19;ribosomal protein L19, cytosolic, N-terminus truncated APPROVED protein-coding ENSG00000108298 10312 01594 180466 REVIEWED 2305791 RPL21P71 ribosomal protein L21 pseudogene 71 3 3 3 q24 145406995 145407555 + 148465796 148477748 + 146994514 146995074 + 19123937 729962 ABBA01058971;AC092957;AMYH01013564;NG_011368 RPL21_12_416 pseudo 36049 INFERRED 2305010 RPL21P73 ribosomal protein L21 pseudogene 73 7 7 7 q34 133068639 133068977 - 138330855 138331193 - 138330855 138331193 - 19123937 100271182 AACC02000025;ABBA01001171;AC013429;AMYH01017969;CH236950;NG_010418 RPL21_28_856 pseudo 36794 INFERRED 2305008 RPL21P74 ribosomal protein L21 pseudogene 74 7 7 7 q21.3 90612692 90613232 + 95912625 95913165 + 95912625 95913165 + 19123937 100271184 AACC02000013;ABBA01045771;AC096775;AMYH01017701;CH236949;NG_010429 RPL21_30_821 pseudo 35854 INFERRED 2305007 RPL21P78 ribosomal protein L21 pseudogene 78 8 8 q24 130192125 130192663 - 134014822 134015360 - 19123937 100271185 ABBA01014202;AF305872;AMYH01019037;NG_010433;NG_015832 RPL21_30_950 pseudo 35917 INFERRED 2305354 RPL21P75 ribosomal protein L21 pseudogene 75 7 7 7 p21.1 20026595 20027162 + 20008869 20009447 + 20042348 20042915 + 19123937;9847074 728501 AACC02000007;ABBA01056664;AC005062;AMYH01017101;CH236948;NG_006559 RPL21_29_789 pseudo 36460 INFERRED 2305009 RPL21P77 ribosomal protein L21 pseudogene 77 8 8 p21.3 21209084 21209505 - 22247378 22247799 - 19123937 100271183 ABBA01005514;AC105910;AMYH01018565;NG_010422 1341270 D8S439 RPL21_29_883 pseudo 36186 INFERRED 2304415 RPL21P76 ribosomal protein L21 pseudogene 76 7 7 7 q36.3 152944964 152945495 + 158205100 158205722 + 158512363 158512894 + 19123937;12690205 645373 AACC02000072;ABBA01032311;AC019084;AMYH01018210;CH236954;NG_005567 EAL23930 2112296;2112298 D8S2266;D8S2267 RPL21_31_868 pseudo 37042 INFERRED 2305004 RPL21P79 ribosomal protein L21 pseudogene 79 8 8 q11.23 50436607 50437060 + 54445845 54446298 + 19123937 100271188 ABBA01041718;AC022034;AMYH01018719;NG_010445 RPL21_33_903 pseudo 36931 INFERRED 1346425 RPL21P8 ribosomal protein L21 pseudogene 8 14 14 14 q23.3 45989596 45990206 - 65004155 65004948 - 65934492 65935102 - 19123937 319145 ABBA01018393;AL355840;AMYH01005806;NG_002521 RPL21_48_1381 pseudo 19779 INFERRED 2305006 RPL21P83 ribosomal protein L21 pseudogene 83 9 9 p13.2 37423620 37424164 - 37490386 37490930 - 19123937 100271186 ABBA01050394;AL158156;AMYH01019358;NG_010437 RPL21_31_978 pseudo 35864 INFERRED 2305744 RPL21P80 ribosomal protein L21 pseudogene 80 8 8 8 p12 33681266 33681826 + 34851176 34851771 + 34731638 34732198 + 19123937;22118674 100133273 ABBA01023589;AC087343;AMYH01018640;NG_009717 RPL21_32_892 pseudo 35697 INFERRED 2304497 RPL21P82 ribosomal protein L21 pseudogene 82 9 9 9 q22.31 65204614 65205167 + 93808150 93808647 + 94768306 94768859 + 19123937 650059 ABBA01018581;AL391219;AMYH01021508;NG_009681 RPL21_34_997 pseudo 36307 INFERRED 2305005 RPL21P84 ribosomal protein L21 pseudogene 84 9 9 q21.2 51372382 51372898 - 80795096 80795612 - 19123937 100271187 ABBA01033943;AL353705;AMYH01021434;NG_010439 RPL21_32_987 pseudo 36612 INFERRED 2305003 RPL21P85 ribosomal protein L21 pseudogene 85 9 9 q22.1-q22.3 61675996 61676465 - 91099767 91100236 - 19123937 100271189 ABBA01016518;AL353748;AMYH01021492;NG_010449 RPL21_33_996 pseudo 35694 INFERRED 2304711 RPL21P88 ribosomal protein L21 pseudogene 88 10 10 10 q11.21 40130036 40130503 + 44126395 44126862 + 44126395 44126862 + 19123937 100271421 ABBA01050012;AL645634;AMYH01002293;NG_010322 1339697;1646456;2169473 D10S1669;D10S2221;WI-16015 RPL21_36_1036 pseudo 35714 INFERRED 2305002 RPL21P86 ribosomal protein L21 pseudogene 86 9 9 q22.31 65881230 65881780 - 95439179 95439729 - 19123937 100271190 ABBA01018592;AL137074;AMYH01021510;NG_010452 RPL21_34_998 pseudo 37032 INFERRED 1343107 RPL21P9 ribosomal protein L21 pseudogene 9 14 14 14 q24.1 48240264 48240984 + 67250882 67251794 + 68181222 68181942 + 283562 ABBA01023707;AL049779;AMYH01005816;NG_002491;NG_008321 pseudo 19780 INFERRED 2305452 RPL21P87 ribosomal protein L21 pseudogene 87 9 9 9 q31.3 83288782 83289339 - 111826916 111847170 - 112787121 112787678 - 19123937;22118674 100131672 ABBA01042752;AL158823;AMYH01021625;NG_010463 RPL21_35_1007 pseudo 36411 INFERRED 2304764 RPL21P81 ribosomal protein L21 pseudogene 81 9 9 9 q34 106756331 106756803 + 136205827 136206299 + 136205787 136206335 + 19123937 100271389 ABBA01032461;AC002107;AL158826;AL772161;AMYH01021800;NG_029331 RPL21_35_1017 pseudo 35530 INFERRED 2304710 RPL21P89 ribosomal protein L21 pseudogene 89 10 10 10 q11.23 44609685 44610225 + 51023104 51023644 + 51023104 51023644 + 19123937 100271422 ABBA01041066;AC069546;AMYH01002642;NG_010325 2113940 AB048993 RPL21_37_1041 pseudo 36474 INFERRED 2304709 RPL21P90 ribosomal protein L21 pseudogene 90 10 10 10 q23.33 91500701 91501253 - 97759491 97760043 - 97759491 97760043 - 19123937 100271423 ABBA01021832;AL513355;AMYH01002970;NG_010332 RPL21_37_1084 pseudo 35548 INFERRED 2304708 RPL21P91 ribosomal protein L21 pseudogene 91 10 10 10 q25.1 105305217 105305773 + 111567369 111567925 + 111567369 111567925 + 19123937 100271424 ABBA01063040;AL354951;AMYH01003055;NG_010338 RPL21_39_1094 pseudo 36450 INFERRED 2305898 RPL21P92 ribosomal protein L21 pseudogene 92 10 10 10 q21.3 62828353 62828903 + 69223527 69224014 + 69553487 69554037 + 19123937 100130400 ABBA01019548;AL133551;AMYH01002794;NG_009689 RPL21_38_1051 pseudo 35606 INFERRED 2305611 RPL21P93 ribosomal protein L21 pseudogene 93 10 10 10 p12.1 28953531 28954105 - 29227872 29234468 - 29187879 29188453 - 19123937;22118674 653665 ABBA01034371;AL390248;AMYH01002214;NG_010505 RPL21_36_1027 pseudo 35646 INFERRED 2304707 RPL21P94 ribosomal protein L21 pseudogene 94 11 11 11 p15 6826176 6826741 - 6707077 6707642 - 6707077 6707642 - 19123937 100271425 ABBA01028671;AC091564;AMYH01003368;NG_010346 2174733 SGC30555 RPL21_39_1117 pseudo 35568 INFERRED 2304706 RPL21P95 ribosomal protein L21 pseudogene 95 11 11 11 q14.1 74888225 74888764 - 77579742 77580281 - 77579742 77580281 - 19123937 100271427 ABBA01017417;AMYH01003825;AP002812;NG_010358 RPL21_40_1159 pseudo 36097 INFERRED 2304705 RPL21P96 ribosomal protein L21 pseudogene 96 11 11 11 q22.3 100077448 100077984 + 102915932 102916468 + 102915932 102916468 + 19123937 100271428 ABBA01039928;AMYH01003994;AP001486;NG_010362 RPL21_41_1169 pseudo 36790 INFERRED 2305836 RPL21P98 ribosomal protein L21 pseudogene 98 12 12 12 q21.2 76719829 76720393 + 75578269 75578872 + 77054145 77054708 + 19123937;22118674 653079 ABBA01053543;AC107032;AMYH01004599;NG_009659 RPL21_47_1259 pseudo 36397 INFERRED 2304704 RPL21P99 ribosomal protein L21 pseudogene 99 12 12 12 p11.22 34956675 34957174 - 29811274 29811773 - 29811274 29811773 - 19123937 100271429 ABBA01068077;AC009510;AMYH01004359;NG_010366 1661861 D12S1457 RPL21_41_1222 pseudo 36628 INFERRED 68568 RPL21 ribosomal protein L21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 13 13 13 q12.2 8894559 8899578 + 26723692 26728705 + 27825692 27830705 + 1580863;6480464 7772601;15189156;14567916;17903306;15635413;15489334;12962325;12690205;12477932;11875025;11773032;11751223;11401437;11181995;9582194;8722009;7951316;7821789;17353931;21145461;16169070;21182205;22863883;22939629;16196087;21412954;17620599;22586326;12777385;15303970;18274552;19596686;21139048;21890473;21906983;21987572;22118674;21628590;22234250;22505724 6144 G3V1B3;M0R181;M0R3I5;P46778;Q6IAX2 AB007176;AB061826;ABBA01035750;AF086172;AK130968;AK311795;AL159977;AMYH01004987;BC001603;BC007505;BC019002;BC062981;BC070184;BC070185;BC070323;BC070330;BC071902;BC104478;BC104667;BX647669;CH471075;CR457032;D28406;NM_000982;U14967;U25789;X89401 AAA85655;AAA93231;AAH01603;AAH07505;AAH62981;AAH70184;AAH70323;AAH70330;AAH71902;AAI04668;BAA05772;BAA25835;BAB79464;BAG34738;CAA61582;CAG33313;EAX08395;EAX08396;EAX08397;EAX08398;EAX08399;EAX08400;EAX08401;NP_000973;P46778 Hs.381123;Hs.535873 1647776;1769679;5014514;5015747 D11S4359;D13S1456;RP_L21_1;WI-22777 DKFZp686C06101;FLJ27458;L21;MGC104274;MGC104275;MGC71252 60S ribosomal protein L21;OTTHUMP00000018163;OTTHUMP00000018164;OTTHUMP00000018165;OTTHUMP00000018166;OTTHUMP00000018167 APPROVED protein-coding ENSG00000122026 10313 04700 603636 REVIEWED 1342840 RPL22P1 ribosomal protein L22 pseudogene 1 3 3 q26.2 167600209 167600611 - 169201406 169201808 - 19123937;8395054;7533526 125371 ABBA01058710;AC074033;AMYH01013640;NG_009515;NG_028279 1644247;5127666 D15S1165;SHGC-2494 RPL22_5_435 pseudo 17998 VALIDATED 2305753 RPL22P10 ribosomal protein L22 pseudogene 10 2 2 2 q12.2 101064269 101064641 + 106230259 106230631 + 106863827 106864199 + 19123937 100128408 ABBA01073842;AC092106;AMYH01010841;NG_010803 RPL22_3_253 pseudo 36559 INFERRED 2305719 RPL22P12 ribosomal protein L22 pseudogene 12 2 2 2 q13 105041892 105042696 + 111107738 111108543 + 111391269 111392074 + 19123937 727747 ABBA01001561;AC114776;AC226101;AMYH01010925;NG_011008 RPL22_6_262 pseudo 36345 INFERRED 2305370 RPL22P11 ribosomal protein L22 pseudogene 11 2 2 2 q13 104663024 104664117 - 109851549 109852642 - 110493086 110495119 - 19123937 402100 ABBA01008995;AC011753;AC074387;AC109815;AMYH01010858;NG_010573 RPL22P15;RPL22P9;RPL22_3_260;RPL22_5_261 pseudo 35603 INFERRED 2305733 RPL22P13 ribosomal protein L22 pseudogene 13 4 4 4 q12 52588038 52588387 + 54782047 54782396 + 55087290 55087639 + 19123937;22144915;23401653 442108 ABBA01003401;AC138779;AMYH01014186;NG_011308 RPL22_7_478 pseudo 36352 INFERRED 2304501 RPL22P15 ribosomal protein L22 pseudogene 15 2 q13 110794801 110827404 + 19123937 645231 AC074387;AC109815;CR590757;NG_010573 RPL22P9;RPL22_5_261 pseudo 36182 2305275 RPL22P16 ribosomal protein L22 pseudogene 16 7 7 7 p22.1 4864149 4864521 - 4905061 4905433 - 4905061 4905433 - 19123937 100270959 ABBA01039432;AC092610;AMYH01016990;NG_010570 RPL22_6_780 pseudo 36536 INFERRED 2304887 RPL22P17 ribosomal protein L22 pseudogene 17 10 10 10 q24.3 98387840 98388212 - 104647599 104647971 - 104647599 104647971 - 19123937 100271289 ABBA01063131;AL358790;AMYH01003020;NG_010956 RPL22_7_1091 pseudo 36985 INFERRED 2304886 RPL22P18 ribosomal protein L22 pseudogene 18 10 10 10 q23 75876635 75877008 + 81885697 81886070 + 81885697 81886070 + 19123937 100271290 ABBA01003810;AL356095;AMYH01002882;NG_010959 RPL22_9_1070 pseudo 36232 INFERRED 2305274 RPL22P14 ribosomal protein L22 pseudogene 14 6 6 q15 91006788 91007155 + 90586230 90586597 + 19123937 100270960 ABBA01040543;AL353692;AMYH01016505;NG_010576 RPL22_8_723 pseudo 35990 INFERRED 2305623 RPL22P19 ribosomal protein L22 pseudogene 19 12 12 12 q24.31 125021311 125021697 - 123985979 123986364 - 125420026 125420411 - 19123937 644022 ABBA01060359;AC093719;AMYH01004852;NG_010946 RPL22_8_1294 pseudo 36567 INFERRED 1352841 RPL22P2 ribosomal protein L22 pseudogene 2 14 14 14 q24.3 57391237 57391692 - 76422281 76422940 - 77352663 77353118 - 19123937 326292 ABBA01030669;AF111169;AMYH01005872;NG_002544 RPL22_9_1393 pseudo 19794 VALIDATED 2305673 RPL22P20 ribosomal protein L22 pseudogene 20 14 14 q11.2 18538509 18538885 + 19468509 19468885 + 19123937 100128664 ABBA01007686;AMYH01005467;CR383656;NG_010804 RPL22_10_1337 pseudo 36281 INFERRED 2304681 RPL22P21 ribosomal protein L22 pseudogene 21 17 17 17 p12 15890372 15890710 + 15987354 15987692 + 15987354 15987692 + 19123937 100271455 ABBA01035662;AC002553;AMYH01008146;NG_010494 RPL22_11_1520 pseudo 35547 INFERRED 2305713 RPL22P22 ribosomal protein L22 pseudogene 22 X X X q21.1 81999136 81999514 - 81648539 81648917 - 81761883 81762261 - 19123937 100130922 ABBA01041467;AL031313;AMYH01022647;NG_010552 RPL22_10_1790 pseudo 36109 INFERRED 2305905 RPL22P3 ribosomal protein L22 pseudogene 3 1 1 1 p36.13 15175514 15175972 - 16568175 16568633 - 16695588 16696046 - 19123937;11181995 729662 ABBA01004671;AL358794;AMYH01000281;CH471167;NG_006651 EAW51776 1732976 D1S1357 RPL22_1_15 pseudo 36804 INFERRED 2305498 RPL22P4 ribosomal protein L22 pseudogene 4 1 1 q32.1 204346677 204347066 + 206180054 206180443 + 19123937 100129102 ABBA01001841;AC244035;AMYH01001676;BX571818;NG_010420 RPL22_2_154 pseudo 36299 INFERRED 2304477 RPL22P5 ribosomal protein L22 pseudogene 5 1 1 q21.2 147691189 147691578 - 149424565 149424954 - 19123937 100132479 AC246680;AL109948;AMYH01001371;NG_010661 RPL22_2_96 pseudo 37022 INFERRED 2304967 RPL22P6 ribosomal protein L22 pseudogene 6 1 1 p11.2 120682406 120682795 + 120880883 120881272 + 19123937 100132047 AC244453;AL357493;AMYH01000981;NG_011077 RPL22_1_94 pseudo 36473 INFERRED 1605778 RPL21P44 ribosomal protein L21 pseudogene 44 4 4 4 q12 52350859 52352639 - 54546410 54548202 - 54851653 54853449 - 19123937;12477932;17207965 402176 ABBA01003395;AC110792;AMYH01014184;BC057822;NR_027153 ADQ33023 Hs.452943 5015747 D11S4359 RPL21_17_477 pseudo 33820 17396 VALIDATED 2304735 RPL22P7 ribosomal protein L22 pseudogene 7 2 2 2 q21.1 124008272 124008641 - 130413891 130414260 - 130697421 130697790 - 19123937 100129819 ABBA01040142;AC079776;AMYH01011040;NG_010140 RPL22_4_275 pseudo 35602 INFERRED 2305276 RPL22P8 ribosomal protein L22 pseudogene 8 2 q12 108531366 108531751 + 19123937 100270957 ABBA01000750;AC009963;AMYH01010852;NG_010562 RPL22_4_256 pseudo 36782 INFERRED 1343228 RPL23AP1 ribosomal protein L23a pseudogene 1 6 6 6 p21.3 31297838 31298360 - 29802325 29802995 - 29694409 29694931 - 6480464 19123937;8662070 6148 ABBA01038036;AL022723;AL645939;AL669813;AL844851;AMYH01016197;BX005428;BX927250;CR753818;NG_001027;NG_012009 1654334;2146916;2220084;2220314 D6S2866;HLA-F;RH71004;STS-R00280 RPL23A_15_676;dJ377H14.8 pseudo 10318 INFERRED 1352946 RPL23AP10 ribosomal protein L23a pseudogene 10 14 14 14 q32.2 76978601 76979125 - 95992524 95993236 - 96922866 96923390 - 19123937 326293 ABBA01048592;AL359240;AMYH01005978;NG_002545 RPL23A_28_1405 pseudo 19804 INFERRED 1350361 RPL23AP11 ribosomal protein L23a pseudogene 11 14 14 14 q32.31 83182662 83183197 - 102198211 102198899 - 103128530 103129065 - 19123937 326294 ABBA01048459;AL132801;AMYH01006036;NG_002546 RPL23A_29_1408 pseudo 19808 INFERRED 1346230 RPL23AP12 ribosomal protein L23a pseudogene 12 21 21 21 q22.2 25697234 25697755 + 39420962 39421836 + 40499481 40500002 + 19123937 391282 ABBA01009348;AF064859;AMYH01012244;NG_009514 1821674;1828480;1831296;1834180;1896982;1896984;1896986;1896988;1896990;1896992;1896994;1896996;1896998;1897000;1897002;1897004;2202806 ECD11923;ECD15367;ECD16784;ECD18238;REN19281;REN19282;REN19283;REN19284;REN19285;REN19286;REN19287;REN19288;REN19289;REN19290;REN19291;REN19292;stSG622550 RPL23A_41_1732 pseudo 23840 VALIDATED 1625834 RPL23AP14 ribosomal protein L23a pseudogene 14 12 12 12 p13.33 4504985 4505511 + 2761321 2761821 + 2891060 2891586 + 19123937;11181995 341511 ABBA01048801;AC005841;AMYH01004181;CH471116;NG_006075 EAW88891 RPL23A_29_1192 pseudo 21007 INFERRED 2304364 RPL23AP15 ribosomal protein L23a pseudogene 15 1 1 1 q42.13 201826752 201827205 - 226703492 226703945 - 228636869 228637322 - 19123937 391175 ABBA01005836;AL139288;AMYH01001794;NG_006072 RPL23A_4_173 pseudo 36486 INFERRED 2304982 RPL23AP16 ribosomal protein L23a pseudogene 16 1 1 1 q32.1 172463630 172464040 + 197604806 197608073 + 199341004 199341414 + 19123937 647201 ABBA01027571;AC099335;AMYH01001629;NG_009787 1337162;1654173;1752567;1757591;1779950;1956972;2133007;2157889 AL009515;D1S1704;D1S1726;D1S3732;REN49353;SHGC-106478;SHGC-145055;SHGC-154194 RPL23A_4_145 pseudo 36652 INFERRED 2305573 RPL23AP18 ribosomal protein L23a pseudogene 18 1 1 1 q32.3 185707986 185708453 - 210549016 210549483 - 212482393 212482860 - 19123937 728134 ABBA01048182;AL360091;AMYH01001707;NG_006077 RPL23A_3_161 pseudo 36726 INFERRED 2305054 RPL23AP17 ribosomal protein L23a pseudogene 17 1 1 p34 39847268 39847763 + 41564310 41564805 + 19123937 100271138 ABBA01023154;AL110502;AMYH01000541;NG_010181 RPL23A_3_37 pseudo 35904 INFERRED 2305644 RPL23AP19 ribosomal protein L23a pseudogene 19 1 1 1 p36.23 7999809 8000180 + 8800310 8814024 + 8891066 8891437 + 19123937 100131143 ABBA01035523;AL354930;AL357552;AMYH01000230;NG_009753 RPL23A_2_8 pseudo 36708 INFERRED 1342571 RPL23AP2 ribosomal protein L23a pseudogene 2 19 19 19 p13.12 15619309 15620280 + 15583452 15584420 + 15722449 15723420 + 19123937 401904 ABBA01051120;AD000091;AMYH01009555;NG_006074;NG_008068 2175895 G28287 RPL23A_38_1631 pseudo 10319 INFERRED 2305805 RPL23AP20 ribosomal protein L23a pseudogene 20 1 1 1 q43 215334914 215335437 + 240146001 240146469 + 242079366 242079889 + 19123937 645962 ABBA01033259;AL365366;AMYH01001875;BX571673;NG_009606 RPL23A_6_188 pseudo 36622 VALIDATED 2305463 RPL23AP21 ribosomal protein L23a pseudogene 21 1 1 p36.33 217633 218641 - 227770 228778 - 19123937 728481 AP006222;NG_009563 RPL23A_1_1 pseudo 35827 INFERRED 2304885 RPL23AP22 ribosomal protein L23a pseudogene 22 1 1 1 q31.2 166838286 166838740 - 193725943 193726397 - 193725943 193726397 - 19123937 100271291 ABBA01027631;AL157837;AMYH01001596;NG_010963 RPL23A_2_142 pseudo 35505 INFERRED 2304884 RPL23AP23 ribosomal protein L23a pseudogene 23 1 1 1 q43 208701816 208702286 + 235459182 235459652 + 235459182 235459652 + 19123937 100271292 ABBA01033125;AL391994;AMYH01001844;NG_010968;NG_029484 RPL23A_5_178 pseudo 36272 INFERRED 2305352 RPL23AP24 ribosomal protein L23a pseudogene 24 1 1 p36.33 460877 461223 + 471014 471360 + 19123937 728517 AL732372;NG_011020 RPL23A_1_2 pseudo 36176 INFERRED 2305851 RPL23AP26 ribosomal protein L23a pseudogene 26 2 2 2 q37.1 226226970 226232036 + 232158819 232163882 + 232450575 232455638 + 19123937 391490 ABBA01002055;AC104634;AMYH01011559;NG_010355 RPL23A_14_334 pseudo 35592 INFERRED 2304680 RPL23AP27 ribosomal protein L23a pseudogene 27 2 2 2 q12.1 99495911 99496354 + 105294690 105295133 + 105294690 105295133 + 19123937 100271456 ABBA01073877;AC068057;AMYH01010831;NG_010498 RPL23A_10_252 pseudo 36497 INFERRED 2305577 RPL23AP25 ribosomal protein L23a pseudogene 25 1 1 q44 247197526 247197891 + 249230903 249231268 + 19123937 653789 ABBA01002093;AL672183;AMYH01001953;NG_011146 RPL23A_7_192 pseudo 35672 INFERRED 2304679 RPL23AP28 ribosomal protein L23a pseudogene 28 2 2 2 q36.3 216677430 216677899 - 222909244 222909713 - 222909244 222909713 - 19373437;19123937 100271457 ABBA01023820;AC009302;AMYH01011515;NG_010502 RPL23A_10_329 pseudo 36727 INFERRED 2304678 RPL23AP29 ribosomal protein L23a pseudogene 29 2 2 2 q23.3 147841602 147842040 + 154227140 154227578 + 154227140 154227578 + 19123937 100271458 ABBA01004801;AC012501;AMYH01011182;NG_010509 RPL23A_11_287 pseudo 36355 INFERRED 2304677 RPL23AP30 ribosomal protein L23a pseudogene 30 2 2 2 q31.3 195686045 195686545 + 201931414 201931914 + 201931414 201931914 + 19123937 100271459 ABBA01062530;AC007272;AMYH01011401;NG_010512 RPL23A_12_308 pseudo 35617 INFERRED 2304676 RPL23AP31 ribosomal protein L23a pseudogene 31 2 2 2 q33 213474098 213474558 + 219706328 219706788 + 219706328 219706788 + 19123937 100271460 ABBA01023857;AC009974;AMYH01011497;NG_010518 RPL23A_13_326 pseudo 35777 INFERRED 1345681 RPL23AP3 ribosomal protein L23a pseudogene 3 21 21 21 q22.2 22587229 22587744 - 36310093 36310825 - 37388340 37388855 - 19123937;10830953;9740676 8489 AB003151;ABBA01057380;AMYH01012222;AP000688;NG_000878 RPL23A_37_1729 pseudo 10320 INFERRED 2305379 RPL21P97 ribosomal protein L21 pseudogene 97 11 11 p15.4 9803367 9803928 + 9681942 9682503 + 19123937;12477932;17353931;22118674 387753 ABBA01061167;AC011979;AMYH01003385;NG_010883 RPL21_40_1120 pseudo 36223 INFERRED 2304883 RPL23AP33 ribosomal protein L23a pseudogene 33 2 2 2 q32.1 179362583 179363037 - 185766835 185767289 - 185766835 185767289 - 19123937 100271293 ABBA01062324;AC010747;AMYH01011324;NG_010972 RPL23A_7_304 pseudo 36946 INFERRED 2304882 RPL23AP34 ribosomal protein L23a pseudogene 34 2 2 2 p23.2 28376094 28376503 + 28531028 28531437 + 28531028 28531437 + 19123937 100271294 ABBA01045228;AC093690;AMYH01010203;NG_010979 RPL23A_8_204 pseudo 36035 INFERRED 2304881 RPL23AP35 ribosomal protein L23a pseudogene 35 2 2 2 q32.1 180721994 180722492 - 187126144 187126642 - 187126144 187126642 - 19123937 100271295 ABBA01062332;AC093038;AMYH01011335;NG_010987 RPL23A_8_306 pseudo 36580 INFERRED 2304880 RPL23AP36 ribosomal protein L23a pseudogene 36 2 2 2 q33.2 197692364 197692810 - 203939408 203939854 - 203939408 203939854 - 19123937 100271296 ABBA01062595;AC023271;AMYH01011416;NG_010993 RPL23A_9_314 pseudo 35685 INFERRED 2305527 RPL23AP37 ribosomal protein L23a pseudogene 37 2 2 2 p14 64420822 64421312 - 64427893 64428383 - 64574389 64574879 - 6480464 19123937;22747683 130773 ABBA01075417;AC114752;AMYH01010399;NG_011103 RPL23A_5_234 pseudo 35664 INFERRED 2305818 RPL23AP38 ribosomal protein L23a pseudogene 38 3 3 3 p26.3 1577675 1578183 - 1612421 1612929 - 1637421 1637929 - 19123937 391504 ABBA01020498;AC090043;AMYH01012935;NG_010432 RPL23A_11_340 pseudo 36351 INFERRED 2304675 RPL23AP39 ribosomal protein L23a pseudogene 39 3 3 3 p26.3 1711279 1711699 + 1771738 1772158 + 1771738 1772158 + 19123937 100271461 ABBA01020496;AC090042;AMYH01012936;NG_010521 RPL23A_15_341 pseudo 36470 INFERRED 1353745 RPL23AP4 ribosomal protein L23a pseudogene 4 21 21 q22.3 46935021 46935693 + 48110662 48111169 + 19123937;10830953 54029 AMYH01012342;AP001478;AP001761;NG_000910 RPL23A_42_1735 pseudo 10321 INFERRED 2304674 RPL23AP40 ribosomal protein L23a pseudogene 40 3 3 3 q22.3 136942138 136942526 + 138515693 138516081 + 138515693 138516081 + 19123937 100271462 ABBA01059082;AC067728;AMYH01013533;NG_010526 RPL23A_17_408 pseudo 35587 INFERRED 2305542 RPL23AP41 ribosomal protein L23a pseudogene 41 3 3 q23 139044400 139044857 + 140621036 140621493 + 19123937 646685 ABBA01059055;AC132032;AMYH01013540;NG_010152 RPL23A_18_409 pseudo 35634 INFERRED 2305822 RPL23AP43 ribosomal protein L23a pseudogene 43 3 3 3 p22.3 32760407 32765029 + 32798055 32802676 + 32823051 32827672 + 6480464 19123937 389101 ABBA01024924;AC139452;AMYH01013064;NG_011232 RPL23A_16_360 pseudo 35751 INFERRED 2305225 RPL23AP42 ribosomal protein L23a pseudogene 42 3 3 3 q26.1 159567812 159569713 - 162613596 162630100 - 161145486 161147405 - 6480464 19123937;16341674;11181995 647099 ABBA01058787;AC112491;AMYH01013616;CH471052;NG_010965 EAW78613;EAW78614 Hs.419463 RPL23A_13_431 pseudo 35942 VALIDATED 2305703 RPL23AP44 ribosomal protein L23a pseudogene 44 5 5 5 q23.1 116865608 116865817 - 120939442 120939651 - 120911543 120911752 - 6480464 19123937 391825 ABBA01068966;AC106806;AMYH01015580;NG_010762 RPL23A_14_607 pseudo 35955 INFERRED 2305877 RPL23AP45 ribosomal protein L23a pseudogene 45 5 5 q35.3 180831568 180834127 + 180898962 180901521 + 19123937 729764 AC138031;NG_010858 RPL23A_19_648 pseudo 36896 INFERRED 2305691 RPL23AP46 ribosomal protein L23a pseudogene 46 6 6 6 q23.2 134065836 134066306 - 133360402 133360872 - 133318709 133319179 - 19123937 442260 ABBA01025875;AL139102;AMYH01016677;NG_010780 RPL23A_17_757 pseudo 35894 INFERRED 2304485 RPL23AP47 ribosomal protein L23a pseudogene 47 6 6 q27 170890850 170896984 + 171048925 171055059 + 19123937 729277 AL731684;NG_010975 RPL23A_21_778 pseudo 36576 INFERRED 2305347 RPL23AP48 ribosomal protein L23a pseudogene 48 6 6 6 q22.31 122745645 122746132 - 122042817 122043304 - 122001118 122001605 - 19123937 728567 ABBA01025990;AL603865;AMYH01016634;NG_011281 RPL23A_16_748 pseudo 36110 INFERRED 2305757 RPL23AP49 ribosomal protein L23a pseudogene 49 3 3 3 p12.3 76417572 76418039 - 75756170 75756873 - 75673837 75674304 - 19123937 653236 ABBA01030989;AC108724;AMYH01013292;NG_011379 RPL23A_12_383 pseudo 35689 INFERRED 1344515 RPL23AP5 ribosomal protein L23a pseudogene 5 16 16 16 p13.3 637294 637838 + 376764 377234 + 436746 437290 + 19123937;11157797;9054936;23446634 729480 ABBA01030376;AE006463;AMYH01006991;NG_006537;Z97634 AAK61228 1818656;2049292;2049294;2049296;2049298;2049300;2049302;2049304;2104736 ECD10392;REN95789;REN95790;REN95791;REN95792;REN95793;REN95795;REN95796;stSG609089 RPL23AL;RPL23A_35_1465;RPL2B;c367G8.3;rjd10 pseudo 14194 INFERRED 2305576 RPL23AP50 ribosomal protein L23a pseudogene 50 6 6 6 q21 108999773 109000227 + 108359697 108360412 + 108253004 108253458 + 19123937 728106 ABBA01026162;AL024507;AMYH01016575;NG_011358 RPL23A_20_731 pseudo 35958 INFERRED 2304673 RPL23AP51 ribosomal protein L23a pseudogene 51 7 7 7 p22 7749486 7749942 - 7781737 7782193 - 7781737 7782193 - 19123937 100271464 AACC02000012;ABBA01056521;AC007161;AMYH01017058;CH236948;NG_010537 RPL23A_18_782 pseudo 36040 INFERRED 2304672 RPL23AP52 ribosomal protein L23a pseudogene 52 7 7 7 p21.3 11020807 11021260 - 11046026 11046479 - 11046026 11046479 - 19123937 100271465 AACC02000009;ABBA01056553;AC005007;AMYH01017072;CH236948;NG_010541 RPL23A_19_784 pseudo 36723 INFERRED 2304671 RPL23AP54 ribosomal protein L23a pseudogene 54 8 8 8 p23.2 5309763 5310223 + 5334031 5334491 + 5334031 5334491 + 19123937 100271466 ABBA01007070;AC091193;AMYH01018291;NG_010550 RPL23A_22_870 pseudo 36689 INFERRED 2304670 RPL23AP55 ribosomal protein L23a pseudogene 55 8 8 8 p21 22027029 22027480 + 23064431 23064882 + 23064431 23064882 + 19123937 100271467 ABBA01005539;AC100861;AMYH01018573;NG_010555;NG_032107 RPL23A_23_884 pseudo 35997 INFERRED 1602286 RPL22L1 ribosomal protein L22-like 1 3 3 3 q26.2 168982460 168987841 - 172065358 172070739 - 170582664 170588045 - 6480464 15489334;12477932;8076819;21145461;19615732;20379614;21906983;22145905 200916 C9JYQ9;F8WDK8;H0Y8C2;Q5JWX6;Q6P5R6 ABBA01058671;AC061708;AL110170;AMYH01013645;BC062731;BC107708;BM451642;CA449264;CH471052;NM_001099645 AAH62731;AAI07709;CAI46223;EAW78503;NP_001093115;Q6P5R6 Hs.380933 MGC104449 60S ribosomal protein L22-like 1;OTTHUMP00000213695;OTTHUMP00000213697;OTTHUMP00000213738;OTTHUMP00000213739;OTTHUMP00000213740 protein-coding ENSG00000163584 27610 VALIDATED 2305843 RPL23AP56 ribosomal protein L23a pseudogene 56 8 8 8 q24.22 132163861 132164316 - 136060321 136060755 - 135991070 135991525 - 19123937 645809 ABBA01012697;AC103764;AMYH01019041;NG_011378 1747125 G64004 RPL23A_21_952 pseudo 35516 INFERRED 2305837 RPL23AP57 ribosomal protein L23a pseudogene 57 9 9 p24.1 6576611 6577082 + 6639141 6639611 + 19123937 648294 ABBA01065391;AL162411;AMYH01019209;NG_010529;NG_016397 RPL23A_24_958 pseudo 36971 INFERRED 2304461 RPL23AP58 ribosomal protein L23a pseudogene 58 10 10 10 q24.32 98073442 98073904 - 104332514 104332976 - 104332514 104332976 - 19123937 100271616 ABBA01063146;AL157386;AMYH01003019;NG_009956;NG_021338 RPL23A_23_1090 pseudo 36138 INFERRED 2304459 RPL23AP59 ribosomal protein L23a pseudogene 59 10 10 10 q23-q25 102048991 102049369 + 108309864 108310242 + 108309864 108310242 + 19123937 100271618 ABBA01063063;AL133395;AMYH01003042;NG_009967 RPL23A_25_1093 pseudo 36920 INFERRED 1349675 RPL23AP6 ribosomal protein L23a pseudogene 6 20 20 20 p12.2 10399761 10400288 - 10277705 10278376 - 10329760 10330287 - 19123937 128709 ABBA01053932;AL023913;AMYH01011710;NG_000971 RPL23A_36_1683;dJ1068F16.1 pseudo 16555 INFERRED 2304858 RPL23AP60 ribosomal protein L23a pseudogene 60 10 10 q26.3 135365556 135366565 + 135515566 135516575 + 19123937 728933 AMYH01003246;BX322534;NG_010522 RPL23A_26_1111 pseudo 35966 INFERRED 2305462 RPL23AP61 ribosomal protein L23a pseudogene 61 10 10 q11.23 42832697 42833167 - 51532102 51532572 - 19123937 728484 ABBA01033535;AL589822;AMYH01002693;NG_010857 RPL23A_22_1044 pseudo 36016 INFERRED 2305874 RPL23AP63 ribosomal protein L23a pseudogene 63 11 11 11 p11.2 43886502 43887015 + 43696796 43697309 + 43740220 43740733 + 6480464 19123937 729798 ABBA01060775;AC068205;AMYH01003520;NG_011026 RPL23A_28_1140 pseudo 35502 INFERRED 2304460 RPL23AP62 ribosomal protein L23a pseudogene 62 11 11 11 q23.1 109485217 109485654 - 112332206 112332643 - 112332206 112332643 - 19123937 100271617 ABBA01039796;AMYH01004035;AP002499;NG_009961 RPL23A_24_1177 pseudo 36276 INFERRED 2305628 RPL23AP65 ribosomal protein L23a pseudogene 65 11 11 11 p15.4 9749098 9749648 + 9584257 9584805 + 9627681 9628229 + 6480464 19123937 440027 ABBA01061169;AC011979;AMYH01003385;NG_011129 RPL23A_27_1119 pseudo 36289 INFERRED 1604327 RPL23AP32 ribosomal protein L23a pseudogene 32 This locus represents a transcribed pseudogene of ribosomal protein L23a. [provided by RefSeq, Aug 2011] 2 2 2 p16.2 54596623 54597242 + 54608211 54610514 + 54756359 54756978 + 6480464 19123937;12477932 56969 Q53RC5 ABBA01075254;AC092839;AL390140;AMYH01010361;BC067268;BC096706;BC096740;BC098172;NG_029817;NR_002229 AAX93105 Hs.657366;Hs.732136 1734832;5024651;5493197 D2S1586E;RH66779;UniSTS:484714 DKFZp547I014;RPL23A_9_220 APPROVED pseudo 25345 13209 VALIDATED 2304457 RPL23AP66 ribosomal protein L23a pseudogene 66 12 12 12 p12 17635329 17635809 + 12491710 12492188 + 12491710 12492188 + 19123937 100271620 ABBA01067837;AC007621;AMYH01004289;NG_009979 RPL23A_30_1207 pseudo 35940 INFERRED 2304455 RPL23AP67 ribosomal protein L23a pseudogene 67 12 12 12 q24.33 133402362 133402835 + 133702065 133702538 + 133702065 133702538 + 19123937 100271622 ABBA01042529;AC026786;AMYH01004923;NG_009994 RPL23A_31_1299 pseudo 36658 INFERRED 2305865 RPL23AP68 ribosomal protein L23a pseudogene 68 12 12 12 q21.32 87234478 87245287 - 86087944 86098741 - 87563813 87574610 - 19123937 100130555 ABBA01053432;AC129351;AMYH01004643;NG_011302 RPL23A_26_1264 pseudo 35489 INFERRED 2304454 RPL23AP69 ribosomal protein L23a pseudogene 69 13 13 13 q12.13 6844447 6844876 + 25780190 25780619 + 25780190 25780619 + 19123937 100271623 ABBA01007900;AL359757;AMYH01004978;NG_010001 RPL23A_32_1304 pseudo 36625 INFERRED 2304458 RPL23AP70 ribosomal protein L23a pseudogene 70 14 14 14 q13.2 15477057 15477516 - 35613227 35613686 - 35613227 35613686 - 19123937 100271619 ABBA01061499;AL121594;AMYH01005666;NG_009974 RPL23A_27_1353 pseudo 36030 INFERRED 2305512 RPL23AP71 ribosomal protein L23a pseudogene 71 14 14 14 q13.1 14820172 14820697 + 34024936 34025461 + 34955184 34955709 + 19123937 644384 ABBA01061456;AL445363;AMYH01005655;NG_010173 1757825 SHGC-146638 RPL23A_33_1349 pseudo 36908 INFERRED 2304456 RPL23AP72 ribosomal protein L23a pseudogene 72 16 16 16 q11 31692143 31692577 - 47184043 47184477 - 47184043 47184477 - 19123937 100271621 ABBA01013756;AC007494;AMYH01007645;NG_009986 RPL23A_30_1480 pseudo 35736 INFERRED 2304452 RPL23AP73 ribosomal protein L23a pseudogene 73 17 17 17 p13.2 6678813 6679026 + 6653037 6653250 + 6653037 6653250 + 19123937 100271625 ABBA01054838;AC004706;AMYH01008061;NG_010014 RPL23A_36_1508 pseudo 36443 INFERRED 2305907 RPL23AP74 ribosomal protein L23a pseudogene 74 17 17 17 q23.2 58245564 58249313 + 56501993 56502554 + 59144569 59148308 + 19123937;11181995 729617 ABBA01035392;AC005884;AMYH01008531;AMYH01008532;CH471179;NG_010068 EAW51418 RPL23A_37_1566 pseudo 36148 INFERRED 2305539 RPL23AP75 ribosomal protein L23a pseudogene 75 17 17 17 q21.2 35255833 35256338 - 35849208 35849713 - 38595682 38596187 - 6480464 19123937 728207 ABBA01031827;AC018629;AMYH01008384;NG_010749 RPL23A_32_1546 pseudo 35975 INFERRED 1312599 RPL23A ribosomal protein L23a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 q11.2 23906165 23910537 + 24071127 24075501 + 27047000 27051374 + 6480464 17353931;9417910;15189156;14567916;17081983;15489334;15342556;12477932;11790298;11401437;9687515;9053844;8722009;8662070;11682607;11129635;21145461;21319273;12962325;16196087;21182205;22863883;22939629;22354994;22586326;12777385;19596686;20639865;21045808;21139048;21890473;21906983;22178446;22145905;17361185;21628590;21048991;21853274;22505724 6147 A8MUS3;H7BY10;K7EJV9;K7EMA7;K7ERT8;P62750 ABBA01015048;AC010761;AF001689;AK130965;AK312123;AMYH01008282;AW044310;BC014459;BC058041;BE464375;BE731473;BG476195;BP382007;CH471159;L13799;NM_000984;U02032;U37230;U43701 AAA03341;AAA35681;AAB03210;AAB17510;AAC51934;AAH14459;AAH58041;BAG35059;EAW51131;EAW51132;NP_000975;P62750 Hs.419463 1690748;2147850;2175895;5014311;5022651;5024651;5024683;5113809;5125688 D10S2200;D11S2921;G28287;REN95794;RH47143;RH66779;RH68413;RH78645;SHGC-56895 FLJ27455;L23A;MDA20 60S ribosomal protein L23a;OTTHUMP00000163536;OTTHUMP00000163537;OTTHUMP00000163539;melanoma differentiation-associated gene 20 APPROVED protein-coding 10317 15998 602326 REVIEWED 2305350 RPL23AP77 ribosomal protein L23a pseudogene 77 18 18 18 q11.2 18106067 18106570 - 19543774 19544249 - 21289762 21290262 - 19123937 728538 ABBA01022627;AC067796;AMYH01008887;NG_011124 RPL23A_33_1589 pseudo 36354 INFERRED 2305882 RPL23AP76 ribosomal protein L23a pseudogene 76 17 17 17 p12 14875690 14876147 - 14791783 14792240 - 14851058 14851515 - 19123937;23251661 441781 ABBA01055037;AC005773;AMYH01008128;CH471108;NG_010940 EAW89951 RPL23A_31_1517 pseudo 36555 INFERRED 733560 RPL22 ribosomal protein L22 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008] 1 1 p36.31 6167667 6182266 - 6245080 6259679 - 1580863;6480464 8135813;15189156;14567916;16564389;16556938;15812220;15635413;15489334;14702039;12477932;11875025;11790298;11401437;11056215;17267499;21145461;21319273;22912744;10712515;9847074;8722009;1846807;16169070;18809582;19640998;20936779;22976955;21182205;22863883;22939629;15047060;21151833;12962325;16196087;17620599;21907836;22145905;21628590;15840729;18457437;18624398;21139048;21890473;21906983;22178446;23106098;23184937;19738201;22623428;23000965;23127973;23151878;23246001;23398456;21853274;22505724 6146 K7EJT5;K7EKS7;K7ELC4;K7EMH1;K7EP65;K7ERI7;P35268 AB046408;AB061849;ABBA01035439;AF113701;AK097075;AK311749;AL031847;AL110153;AMYH01000210;BC011829;BC020237;BC032295;BC035566;BC058887;BC066314;BU927988;CA336134;CH471130;CR456873;D17652;NM_000983;X59357 AAH35566;AAH58887;AAH66314;BAA04545;BAB21254;BAB79487;BAG34692;CAA42007;CAG33154;EAW71518;EAW71519;EAW71520;NP_000974;P35268 Hs.515329;Hs.554762 1644247;1664275;1667824;5018931;5024202;5024617;5127038;5127666 160;Cda1cg12;D15S1165;D15S1335;D1S286E;RH17919;SHGC-2494;WI-8550 EAP;HBP15;HBP15/L22;L22 60S ribosomal protein L22;EBER-associated protein;Epstein-Barr virus small RNA-associated protein;Epstein-Barr-encoded RNA-associated protein;OTTHUMP00000001141;heparin-binding protein 15;heparin-binding protein HBp15 APPROVED protein-coding ENSG00000116251 10315 01602 180474 REVIEWED 2304453 RPL23AP78 ribosomal protein L23a pseudogene 78 19 19 19 p13.2 8658189 8658659 - 8839097 8839566 - 8839097 8839566 - 19123937 100271624 ABBA01016837;AC012616;AC243312;AMYH01009446;NG_010009 RPL23A_34_1620 pseudo 35518 INFERRED 2304451 RPL23AP79 ribosomal protein L23a pseudogene 79 19 19 q13.4 59110337 59110802 + 59110337 59110802 + 19123937 100271626 AC016629;AMYH01010041;NG_010019 RPL23A_39_1676 pseudo 36226 INFERRED 1625647 RPL23AP8 ribosomal protein L23a pseudogene 8 14 14 14 q13.2 15027529 15028067 + 34233112 34233624 + 35163361 35163899 + 19123937 641614 ABBA01061482;AL355885;AMYH01005661;NG_006076 1339739 D14S556 RPL23AP9;RPL23A_34_1351 pseudo 23543 INFERRED 2304418 RPL23AP80 ribosomal protein L23a pseudogene 80 19 19 19 q13.33 45103419 45103855 - 52989535 52989971 - 48297723 48298159 - 19123937 390949 ABBA01041056;AC008745;AMYH01009889;NG_010201 2112986 D19S1156 RPL23A_35_1661 pseudo 36956 INFERRED 2304450 RPL23AP81 ribosomal protein L23a pseudogene 81 20 20 20 q12 36535994 36536465 + 39825326 39825797 + 39825326 39825797 + 19123937 100271627 ABBA01052574;AL022394;AMYH01011913;NG_010024 RPL23A_40_1702 pseudo 36246 INFERRED 1602988 RPL23AP9 ribosomal protein L23a pseudogene 9 14 q13.2 34233127 34233620 + 122585 XR_017424;XR_019430 Hs.647560 pseudo 23544 2305272 RPL23P10 ribosomal protein L23 pseudogene 10 8 8 p12 35388596 35388987 - 36438715 36439106 - 19123937 100270962 ABBA01023579;AC084308;AMYH01018647;NG_010585 RPL23_2_893 pseudo 36177 INFERRED 1354324 RPL23 ribosomal protein L23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 q 34259847 34263579 - 37006321 37010053 - 6480464;6484113 1874450;15189156;18029348;14567916;19160485;16189514;15592455;15489334;15314174;15314173;15308643;15149863;12477932;11875025;9582194;9114010;8722009;1861993;21145461;21319273;20936779;19410547;22863883;12962325;16196087;21832049;22939629;19167051;20434207;12777385;18274552;18457437;21045808;21726808;21987572;20972266;21139048;21890473;21906983;22145905;17116689;18214993;20547751;19380743;20016921;21853274;22053931;22174317;22505724;22580751;22944692 9349 B9ZVP7;C9JD32;J3KT29;J3KTJ3;J3QQT9;P62829 AB061827;ABBA01031895;AC110749;AK024749;AMYH01008369;BC003518;BC010114;BC034378;BC062716;BC104651;BC106061;CA437923;CH471152;NM_000978;X52839;X55954 AAH03518;AAH10114;AAH62716;AAI04652;AAI06062;ABM84144;ABM87546;BAB79465;CAA37023;CAA39417;EAW60539;EAW60540;EAW60541;EAW60542;NP_000969;P62829 Hs.406300 1660473;1775414 D17S2026;RH65811 L23;MGC111167;MGC117346;MGC72008;rpL17 60S ribosomal protein L17;60S ribosomal protein L23;OTTHUMP00000164151;OTTHUMP00000164153;ribosomal protein L17 APPROVED protein-coding 10316 04716 603662 REVIEWED 2304879 RPL23P11 ribosomal protein L23 pseudogene 11 10 10 10 p11.22 33918560 33918970 + 34153241 34153651 + 34153241 34153651 + 19123937 100271297 ABBA01033366;AL117338;AMYH01002228;NG_010998 RPL23_6_1032 pseudo 36457 INFERRED 1352398 RPL23P2 ribosomal protein L23 pseudogene 2 21 21 21 q22.11 15552611 15553125 - 29291661 29292337 - 30369877 30370391 - 19123937;10830953 54028 ABBA01057247;AF129075;AL163249;AMYH01012187;NG_000909 RPL23_4_1724 pseudo 10324 INFERRED 2305590 RPL23AP53 ribosomal protein L23a pseudogene 53 8 8 8 p23.3 129097 152515 - 148344 172227 - 158344 182318 - 19123937;16344560;12477932 644128 ABBA01007272;AC004908;AC131281;AK127000;AMYH01018262;AMYH01018263;BC052779;BC064938;BC086864;DA238450;NR_003572 Hs.652159 1776209;5014311 185XB2;REN95794 DKFZp434B1135;FLJ45055;RPL23A_20_869 pseudo 35921 VALIDATED 2305830 RPL23P3 ribosomal protein L23 pseudogene 3 1 1 1 p31.1 77371471 77371897 + 78904544 78904970 + 79131956 79132382 + 19123937 100130630 ABBA01074390;AC104837;AMYH01000724;NG_010377 RPL23_1_65 pseudo 35988 INFERRED 2305217 RPL23AP83 ribosomal protein L23a pseudogene 83 X X X p11.21 60107871 60108343 - 56286095 56286567 - 56269370 56269842 - 19123937 100131846 ABBA01069450;AL050309;AMYH01022450;NG_009997;NG_011949 RPL23A_38_1781 pseudo 35846 INFERRED 2305273 RPL23P4 ribosomal protein L23 pseudogene 4 2 2 q35 214332475 214332876 + 220562535 220562936 + 19123937 100270961 ABBA01023838;AC009502;AMYH01011510;NG_010580 1807066;1808712;1966136;1966138;1966140;1966142;1966144;1966146;1966148;1966150;1966152;1966154;1966156;1966158;2214256 ECD04498;ECD05338;REN53943;REN53944;REN53945;REN53946;REN53947;REN53948;REN53949;REN53950;REN53951;REN53952;REN53953;REN53954;stSG633194 RPL23_2_327 pseudo 36678 INFERRED 2305358 RPL23P6 ribosomal protein L23 pseudogene 6 6 6 6 p21.2 41479317 41479825 - 40034082 40034932 - 39926090 39926598 - 6480464 19123937 646949 ABBA01050772;AL136089;AMYH01016289;NG_010199 RPL23_1_689 pseudo 35554 INFERRED 2305550 RPL23P7 ribosomal protein L23 pseudogene 7 7 7 7 p15.2 26304755 26305260 + 26282340 26282758 + 26315781 26316286 + 19123937 442659 AACC02000007;ABBA01056747;AC010677;AMYH01017129;CH236948;NG_009403 RPL23_5_797 pseudo 36215 INFERRED 2305369 RPL23P5 ribosomal protein L23 pseudogene 5 2 2 2 q36.1 216216415 216225833 + 222146672 222165827 + 222448232 222457651 + 19123937 402120 ABBA01023821;AC079834;AMYH01011514;NG_011036 RPL23_3_328 pseudo 35747 INFERRED 2304422 RPL23P8 ribosomal protein L23 pseudogene 8 7 7 7 p21.1 20852410 20852932 + 20833470 20834484 + 20866917 20867439 + 6480464 19123937 222901 AACC02000007;ABBA01056678;AC005251;AMYH01017105;BE505019;CH236948;EC453672;NR_026673 EAL24272 Hs.722187;Hs.735774 2140313;2147678 AFM217XA9;GDB:1317734 RPL23_4_790 pseudo ENSG00000219451 36225 VALIDATED 1350491 RPL24P1 ribosomal protein L24 pseudogene 1 20 q11 30221662 30222342 - 140757 AL049539;NG_001000 dJ836N17.3 pseudo 16592 2305337 RPL23P9 ribosomal protein L23 pseudogene 9 8 8 8 q22.3 102180512 102184260 - 106062541 106066289 - 105993365 105997113 - 19123937 100129377 ABBA01037656;AC090142;AMYH01018947;NG_010503 1666487 G32179 RPL23_3_937 pseudo 36853 INFERRED 1346982 RPL24P2 ribosomal protein L24 pseudogene 2 20 20 20 p11.23 21169638 21170187 + 21043364 21043838 + 21095322 21095871 + 19123937 140760 ABBA01054100;AL121759;AMYH01011768;NG_001003 RPL24_5_1691;dJ872K7.2 pseudo 16597 INFERRED 1345776 RPL24P3 ribosomal protein L24 pseudogene 3 14 14 14 q24.1 50091830 50092343 - 69097370 69098060 - 70027717 70028230 - 19123937 145235 ABBA01030826;AL133445;AMYH01005825;NG_002525 RPL24_2_1385 pseudo 19784 INFERRED 1606095 RPL24P4 ribosomal protein L24 pseudogene 4 6 6 6 p21.1 44476339 44476768 - 43031950 43032582 - 42924072 42924504 - 19123937 377381 ABBA01050702;AL158815;AMYH01016309;NG_003160;NG_008396 2163636 RH47183 RPL24_1_692;dJ125M3.1 pseudo 21371 INFERRED 2305536 RPL24P5 ribosomal protein L24 pseudogene 5 1 1 1 q31.3 170827649 170828194 + 195971389 195971862 + 197704734 197705279 + 19123937 100129017 ABBA01027587;AL365258;AMYH01001625;NG_011292 RPL24_1_143 pseudo 36102 INFERRED 2304736 RPL24P6 ribosomal protein L24 pseudogene 6 3 3 3 q29 193690948 193691505 + 196762717 196763244 + 195281388 195281945 + 6480464 19123937 100129808 ABBA01001605;AC091633;AMYH01013786;NG_009582 RPL24_3_450 pseudo 36637 VALIDATED 2305271 RPL24P7 ribosomal protein L24 pseudogene 7 3 3 p24.3 23111880 23112436 + 23175810 23176358 + 19123937 100270963 ABBA01025049;AC099544;AMYH01013025;NG_010593 RPL24_2_348 pseudo 36862 INFERRED 2305270 RPL24P8 ribosomal protein L24 pseudogene 8 9 9 q21.11 43422468 43423017 + 72832073 72832622 + 19123937 100270964 ABBA01033820;AL158153;AMYH01021394;NG_010599 2163636 RH47183 RPL24_4_982 pseudo 36409 INFERRED 1343578 RPL25P1 ribosomal protein L25 pseudogene 1 3459254 6153 10326 2304627 RPL23AP64 ribosomal protein L23a pseudogene 64 11 11 11 q23.3 116015853 116016355 - 118378873 118379513 - 118873663 118874303 - 19123937;12477932 649946 ABBA01039681;AMYH01004080;AP003392;BC017930;BC060042;NR_003040 Hs.647213 5014311;5020948;5024651;5109281 D1S1425;G35510;REN95794;RH66779 RPL23A_25_1182 pseudo 36552 VALIDATED 2305754 RPL26P11 ribosomal protein L26 pseudogene 11 1 1 1 q25.1 146424449 146430604 + 171581622 171587772 + 173314999 173321149 + 19123937 730070 ABBA01027908;AL645568;AMYH01001502;NG_011107 RPL26_5_125 pseudo 35768 INFERRED 2305394 RPL26P10 ribosomal protein L26 pseudogene 10 1 1 p13.1 113231683 113232029 + 115002456 115002802 + 19123937 100270886 ABBA01068463;AL035410;AL390241;AMYH01000966;NG_010202;NG_023287 1722461 G61971 RPL26_3_90 pseudo 36323 INFERRED 2304371 RPL26P12 ribosomal protein L26 pseudogene 12 1 1 1 q24.1 138893974 138894463 + 164055214 164055685 + 165788579 165789068 + 19123937 391126 ABBA01047273;AL451074;AMYH01001472;NG_011110 RPL26_4_113 pseudo 36025 INFERRED 2305486 RPL26P13 ribosomal protein L26 pseudogene 13 2 2 2 p16.1 60782204 60782687 + 60792123 60792559 + 60938586 60939069 + 19123937 130865 ABBA01075336;AC012498;AMYH01010379;NG_010263 RPL26_6_221 pseudo 36639 INFERRED 2305746 RPL26P14 ribosomal protein L26 pseudogene 14 2 2 2 q22.3 142273568 142282284 + 148275886 148284603 + 148559416 148568133 + 19123937 100133235 ABBA01028018;AC009480;AMYH01011152;CH471058;NG_010597 EAX11563 RPL26_7_282 pseudo 36184 INFERRED 2305269 RPL26P15 ribosomal protein L26 pseudogene 15 2 2 p21 46069463 46069971 - 46231052 46231560 - 19123937 100270965 ABBA01075135;AC017078;AMYH01010313;NG_010605 RPL26_2_213 pseudo 35512 INFERRED 2305357 RPL26P16 ribosomal protein L26 pseudogene 16 4 4 4 q32.3 163173759 163174319 - 166061186 166061665 - 165841729 165842289 - 19123937 646966 ABBA01070287;AC106872;AMYH01014673;NG_010289 RPL26_3_532 pseudo 36098 INFERRED 2305789 RPL26P17 ribosomal protein L26 pseudogene 17 4 4 4 q21.1 75108551 75113952 + 78026222 78031624 + 77807198 77812600 + 19123937 100128318 ABBA01063367;AC104687;AMYH01014316;NG_010328 RPL26_8_492 pseudo 35662 INFERRED 2305266 RPL26P18 ribosomal protein L26 pseudogene 18 5 5 q33.3 152875979 152876498 + 156849412 156849932 + 19123937 100270968 ABBA01044271;AC008676;AMYH01015747;NG_010618 RPL26_9_632 pseudo 36579 INFERRED 2304746 RPL26P19 ribosomal protein L26 pseudogene 19 5 5 5 q11.2 52754427 52754949 - 55836163 55836693 - 55800419 55800941 - 19123937 441073 ABBA01015765;AC022431;AMYH01015096;NG_008064 RPL26_4_565 pseudo 36393 INFERRED 1346437 RPL26P2 ribosomal protein L26 pseudogene 2 14 14 14 q11.2 3026307 3026836 - 22233000 22233690 - 23163261 23163790 - 19123937 326297 ABBA01061283;AL160314;AMYH01005598;NG_002549 RPL26_14_1341 pseudo 19773 INFERRED 2305001 RPL26P20 ribosomal protein L26 pseudogene 20 6 6 q14.1 76602709 76603146 + 76209421 76209858 + 19123937 100271191 ABBA01040358;AL356057;AMYH01016439;NG_010455 RPL26_10_715 pseudo 35933 INFERRED 2305725 RPL26P21 ribosomal protein L26 pseudogene 21 7 7 7 p21.2 13890539 13891311 + 13878006 13878693 + 13911409 13912181 + 19123937 646161 AACC02000009;ABBA01056596;AC005019;AMYH01017080;CH236948;NG_010072 2156714 D7S790 RPL26_11_785 pseudo 35497 INFERRED 2304360 RPL26P22 ribosomal protein L26 pseudogene 22 7 7 q35 142940006 142940245 - 143229787 143230303 - 19123937 643101 AACC02000107;ABBA01034138;AC073264;AMYH01018013;CH236959;NG_011354 RPL26_5_860 pseudo 36244 INFERRED 2305105 RPL26P23 ribosomal protein L26 pseudogene 23 7 7 7 q36.3 150853190 150853696 + 156118810 156119242 + 156426008 156426514 + 19123937 100129517 AACC02000068;ABBA01032376;AC005534;AMYH01018188;CH236954;NG_011231 RPL26_13_865 pseudo 36634 INFERRED 2305504 RPL26P24 ribosomal protein L26 pseudogene 24 7 7 q35 143124459 143124698 + 143493346 143493862 + 19123937 728311 AACC02000107;AC099548;CH236959;NG_011390 RPL26_12_861 pseudo 35774 INFERRED 2305268 RPL26P25 ribosomal protein L26 pseudogene 25 8 8 p12 35795747 35796315 - 36845448 36846016 - 19123937 100270966 ABBA01023575;AC090453;AMYH01018647;NG_010610 RPL26_6_894 pseudo 36383 INFERRED 2305267 RPL26P26 ribosomal protein L26 pseudogene 26 8 8 q12.1 55018827 55019351 - 59025700 59026224 - 19123937 100270967 ABBA01041785;AC027698;AMYH01018742;NG_010615 RPL26_7_907 pseudo 35693 INFERRED 2304667 RPL26P27 ribosomal protein L26 pseudogene 27 10 10 10 q21 63534631 63535152 + 70259245 70259766 + 70259245 70259766 + 19123937 100271471 ABBA01019568;AL713888;AMYH01002802;NG_010572 2181310 RH66142 RPL26_15_1055 pseudo 36735 INFERRED 2305710 RPL26P28 ribosomal protein L26 pseudogene 28 10 10 10 p15.1 5260296 5260817 - 5336391 5336828 - 5346343 5346864 - 19123937 100130983 ABBA01035199;AL355303;AMYH01002000;NG_010872 1335493 D10S1713 RPL26_8_1018 pseudo 35776 INFERRED 2305329 RPL26P29 ribosomal protein L26 pseudogene 29 10 10 10 q21.3 63459677 63460114 + 69854323 69854760 + 70184317 70184754 + 19123937 100131788 ABBA01019566;AL136233;AMYH01002802;NG_008066 FLJ10063;RPL26_14_1054 pseudo 36135 INFERRED 1348289 RPL26P3 ribosomal protein L26 pseudogene 3 14 14 14 q12 8824635 8825122 + 28028761 28029448 + 28959111 28959598 + 19123937 326298 ABBA01061374;AL133162;AMYH01005627;NG_002550 RPL26_17_1344 pseudo 19776 INFERRED 2304669 RPL26P31 ribosomal protein L26 pseudogene 31 11 11 11 q21-q22 90090164 90090660 - 92785544 92786040 - 92785544 92786040 - 19123937 100271469 ABBA01040054;AMYH01003947;AP002371;NG_010564 RPL26_11_1166 pseudo 36907 INFERRED 2305798 RPL26P30 ribosomal protein L26 pseudogene 30 11 11 11 p15.5 2391446 2391899 - 2312921 2313585 - 2356541 2356994 - 19123937;11181995;20562864 653147 ABBA01032095;AC129929;AMYH01003321;CH471158;NG_010478 EAX02506 1667038;1851959 D11S4616;STS-T97510 RPL26_10_1113 pseudo 36733 INFERRED 2304988 RPL26P32 ribosomal protein L26 pseudogene 32 12 12 12 q21.31 80163189 80163687 - 79020758 79021266 - 80496639 80497137 - 19123937;11181995;17903296 400055 ABBA01053498;AC078817;AMYH01004610;CH471054;NG_006965 EAW97359;EAW97360 RPL26_12_1262 pseudo 36448 INFERRED 2304402 RPL26P33 ribosomal protein L26 pseudogene 33 12 12 12 q13.12 49555369 49555896 + 49045702 49046186 + 50759382 50759913 + 19123937 100132547 ABBA01031569;AC090058;AMYH01004451;NG_011012 RPL26_16_1236 pseudo 36755 INFERRED 2304668 RPL26P34 ribosomal protein L26 pseudogene 34 13 13 13 q12.12 6341693 6342143 - 25278476 25278926 - 25278476 25278926 - 19123937 100271470 ABBA01007894;AL157364;AMYH01004976;NG_010568 RPL26_13_1302 pseudo 36249 INFERRED 2305872 RPL26P35 ribosomal protein L26 pseudogene 35 18 18 18 q23 71362598 71363166 - 72675354 72675832 - 74546348 74546916 - 19123937 100128115 ABBA01015286;AC027575;AMYH01009113;NG_010596 RPL26_15_1614 pseudo 36278 INFERRED 2305375 RPL26P36 ribosomal protein L26 pseudogene 36 X X X q21.32 92435033 92435611 - 91818116 91818609 - 91931475 91932051 - 19123937 392501 AL121871;AMYH01022687;NG_010282 RPL26_16_1792 pseudo 36685 INFERRED 1351741 RPL26P4 ribosomal protein L26 pseudogene 4 14 14 14 q32.31 82199016 82199502 + 101213699 101214624 + 102144274 102144760 + 19123937 283603 ABBA01048508;AL355032;AMYH01006021;NG_002527 RPL26_18_1407 pseudo 19807 INFERRED 2304148 RPL26P5 ribosomal protein L26 pseudogene 5 15 15 q26.2 71231911 71232417 + 94816725 94817231 + 654386 ABBA01032436;AC135626;AMYH01006944;NG_009883 HsT41398 pseudo 31031 INFERRED 2304362 RPL26P37 ribosomal protein L26 pseudogene 37 Y Y Y p11.2 92435033 92435611 - 5721289 5721778 - 5661298 5661876 - 19123937;12815422;9847074 441533 ABBA01069925;AC010874;NG_002815 1702744 DXS1508 RPL26_17_1822 pseudo 36004 INFERRED 2291776 RPL26P6 ribosomal protein L26 pseudogene 6 10 10 10 q22.2 68467570 68468113 - 74851969 74852465 - 75181974 75182517 - 19123937 100131526 ABBA01020326;AL353731;AMYH01002828;NG_009730 5037295 ZMYND17__4955 RPL26_9_1063 pseudo 34023 INFERRED 2305397 RPL26P7 ribosomal protein L26 pseudogene 7 1 1 p36.2 8833373 8833713 - 9722346 9722686 - 19123937 100270883 ABBA01035565;AL691449;AMYH01000241;NG_010184;NG_023434 RPL26_1_10 pseudo 37030 INFERRED 2305396 RPL26P8 ribosomal protein L26 pseudogene 8 1 1 p36.11 23217234 23217608 + 24890088 24890462 + 19123937 100270884 ABBA01059908;AL445686;AMYH01000371;NG_010189 RPL26_1_22 pseudo 36192 INFERRED 1606408 RPL23AP82 ribosomal protein L23a pseudogene 82 22 22 q13.33 49542380 49584800 + 51195514 51238065 + 6480464 19123937;12477932;17207965 284942 AADB02274699;ABBA01006498;AC002055;AC002056;AK293095;AL365511;AMYH01012925;BC010172;BC019348;BC065556;BQ668440;DC308368;NR_026981;NR_026982 ADQ33086;BAF85784;CAB97207 Hs.406135 1675489;1686090;1706104;5014311 REN95794;RH70758;RH79812;SHGC-80090 MGC70863;RPL23A_43_1761 pseudo 33730 14701 VALIDATED 2305395 RPL26P9 ribosomal protein L26 pseudogene 9 1 1 p22 96305137 96305572 + 98051422 98051856 + 19123937 100270885 ABBA01045475;AL356457;AMYH01000818;NG_010196 RPL26_2_76 pseudo 36180 INFERRED 1347451 RPL27AP ribosomal protein L27a pseudogene 20 20 20 q13.12 38988611 38989443 + 41714461 41715493 + 42281148 42281980 + 128481 ABBA01052624;AL121886;AMYH01011926;NG_000965 dJ1028D15.2 pseudo 16250 INFERRED 2304372 RPL27AP2 ribosomal protein L27a pseudogene 2 1 1 1 q23.2 133056239 133059014 + 158254423 158257198 + 159987799 159990574 + 19123937;11181995 391124 ABBA01016617;AL513302;AMYH01001448;CH471121;NG_006951 EAW52753 RPL27A_1_106 pseudo 36238 INFERRED 1352544 RPL23AP7 ribosomal protein L23a pseudogene 7 2 2 2 q14 1787956 1788395 + 114085515 114101135 - 114368816 114384715 - 19123937;16344560;14702039;12477932;8889548;8799457 118433 AK055264;AL078621;AMYH01010967;AW340513;BC000596;BC105600;BE464804;BG335018;BI464848;BM661697;BX643196;DA484374;DA864496;NR_000029;NR_024528;NR_024529;NR_024530;NR_024531 Hs.595056;Hs.720253 5014311 REN95794 MGC104442;RPL23AL1;RPL23A_6_267;bA395L14.9 pseudo 17336 VALIDATED 2304878 RPL27AP3 ribosomal protein L27a pseudogene 3 2 2 2 q32.1 175399011 175399442 - 181803594 181804025 - 181803594 181804025 - 19123937 100271298 ABBA01062281;AC104076;AMYH01011314;NG_011002 2125554 FB22B6 RPL27A_1_302 pseudo 35553 INFERRED 2304877 RPL27AP4 ribosomal protein L27a pseudogene 4 2 2 q13 106921211 106921660 + 106921211 106921660 + 19123937 100271299 ABBA01073840;AC114755;AMYH01010842;NG_011006 2125554 FB22B6 RPL27A_2_255 pseudo 36262 INFERRED 2304843 RPL27AP5 ribosomal protein L27a pseudogene 5 5 5 5 q13.3 70180295 70180743 - 74286014 74286462 - 74286014 74286462 - 19123937 100271300 ABBA01061940;AC116337;AMYH01015407;NG_011014 RPL27A_2_577 pseudo 36420 INFERRED 2305705 RPL27AP6 ribosomal protein L27a pseudogene 6 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPL27A gene, there is no convincing evidence of transcription. It is thus being annotated as a pseudogene.[provided by RefSeq, Feb 2009] 6 6 6 q25.2 154337856 154338361 - 153645061 153645586 - 153603384 153603889 - 6480464 19123937;11181995 389435 ABBA01025606;AL590867;AMYH01016751;CH471051;NG_010315 EAW47709 2166423;2189341 D11S4394;MARC_1767-1768:991931306:1 RPL27A_4_770 APPROVED pseudo 35977 INFERRED 2304842 RPL27AP7 ribosomal protein L27a pseudogene 7 6 6 6 p12 49276819 49277222 - 47720567 47720970 - 47720567 47720970 - 19123937 100271301 ABBA01050605;AL356421;AMYH01016332;NG_011018 RPL27A_3_699 pseudo 36064 INFERRED 2304468 RPL27AP8 ribosomal protein L27a pseudogene 8 13 13 13 q14.2 29395639 29396095 - 48340775 48341231 - 48340775 48341231 - 19123937 100271605 ABBA01050999;AL138959;AMYH01005099;NG_011272 RPL27A_5_1310 pseudo 36544 INFERRED 1352125 RPL27P1 ribosomal protein L27 pseudogene 1 14 14 14 q12 11156046 11156540 + 30360276 30360940 + 31290597 31291091 + 19123937 326299 ABBA01061404;AC000004;AL049830;AMYH01005638;NG_002551 RPL27_7_1347 pseudo 19668 INFERRED 2305742 RPL27P10 ribosomal protein L27 pseudogene 10 5 5 5 p13.3 32103483 32103974 + 32257795 32258210 + 32222003 32222494 + 19123937 202122 ABBA01066733;AC025181;AMYH01014997;NG_010719 RPL27_5_551 pseudo 35494 INFERRED 2305517 RPL27P11 ribosomal protein L27 pseudogene 11 7 7 7 q32.3 125678298 125678787 + 130577891 130578301 + 130927314 130927803 + 19123937 442723 AACC02000027;ABBA01057565;AC009362;AMYH01017941;CH236950;NG_010513 RPL27_6_845 pseudo 36533 INFERRED 2304841 RPL27P12 ribosomal protein L27 pseudogene 12 12 12 12 q24.31 123802020 123802444 - 124205765 124206189 - 124205765 124206189 - 19123937 100271302 ABBA01060393;AC117503;AMYH01004841;NG_011023;NG_012743 RPL27_4_1293 pseudo 36736 INFERRED 2305617 RPL27P2 ribosomal protein L27 pseudogene 2 1 1 1 q23.2 132797362 132797838 + 157995584 158011299 + 159728934 159729410 + 19123937 646446 ABBA01016618;AL445528;AMYH01001447;CH471121;NG_010249 EAW52776 RPL27_1_105 pseudo 36948 INFERRED 2305545 RPL27P4 ribosomal protein L27 pseudogene 4 1 1 1 p35.3 27704886 27705286 - 29181377 29181996 - 29308756 29309156 - 19123937 646624 ABBA01035070;AL138785;AMYH01000440;NG_009593;NG_013344 RPL27_1_28 pseudo 35503 VALIDATED 2305265 RPL27P5 ribosomal protein L27 pseudogene 5 2 2 p13 63179782 63180115 - 63335231 63335564 - 19123937 100270969 ABBA01075398;AC009501;AMYH01010396;NG_010624 RPL27_2_231 pseudo 36120 INFERRED 2305113 RPL27P6 ribosomal protein L27 pseudogene 6 2 2 2 p15 63756432 63756907 + 63764944 63765353 + 63911405 63911880 + 19123937 647112 ABBA01075404;AC096664;AMYH01010396;NG_011037 RPL27_2_233 pseudo 36330 INFERRED 2305458 RPL27P7 ribosomal protein L27 pseudogene 7 2 2 2 q14.2 114077617 114078088 - 120467251 120467657 - 120750744 120751215 - 19123937 100129234 ABBA01045918;AC016691;AMYH01010990;NG_011089 RPL27_3_270 pseudo 36107 INFERRED 2304411 RPL27P8 ribosomal protein L27 pseudogene 8 2 2 2 q33.3 200662511 200662999 + 206613401 206613814 + 206905113 206905601 + 19123937 729332 ABBA01062644;AC007679;AMYH01011433;CH471063;NG_011266 EAW70376 RPL27_3_316 pseudo 36012 INFERRED 2305264 RPL27P9 ribosomal protein L27 pseudogene 9 3 3 p14.3 58510600 58510977 + 58497037 58497414 + 19123937 100270970 ABBA01024380;AC116036;AMYH01013229;NG_010630 RPL27_4_375 pseudo 36874 INFERRED 1351908 RPL28P1 ribosomal protein L28 pseudogene 1 3 3 3 q26.2 168770782 168771276 - 171854329 171854742 - 170371596 170372090 - 19123937;11181995 402149 ABBA01058675;AC026316;AMYH01013644;CH471052;NG_009516 EAW78507 2119032 D3S3114 RPL28_2_436;bcm2489 pseudo 31359 VALIDATED 2305263 RPL28P2 ribosomal protein L28 pseudogene 2 2 2 q37.1 226430712 226431112 - 232654196 232654596 - 19123937 100270971 ABBA01002038;AC073476;AMYH01011561;NG_010634 RPL28_1_335 pseudo 36234 INFERRED 2305702 RPL28P3 ribosomal protein L28 pseudogene 3 5 5 5 q23.2 120100930 120101335 - 124172418 124172823 - 124144519 124144924 - 19123937 391828 ABBA01068922;AC113398;AMYH01015594;NG_010782 1769524 D19S1019 RPL28_3_609 pseudo 35973 INFERRED 2305887 RPL28P4 ribosomal protein L28 pseudogene 4 15 15 15 q21.3 35381041 35381453 + 56280097 56280509 + 58492805 58493217 + 19123937 441726 ABBA01038985;AC066616;AMYH01006678;NG_010654 RPL28_1_1435 pseudo 36618 INFERRED 2304484 RPL28P5 ribosomal protein L28 pseudogene 5 19 19 19 p13.2 12264863 12265319 + 12231941 12232397 + 12370941 12371397 + 19123937 729279 ABBA01029801;AC012618;AMYH01009490;NG_010989 RPL28_2_1625 pseudo 35766 INFERRED 1352940 RPL26L1 ribosomal protein L26-like 1 This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. Transcript variants utilizing alternative polyA signals exist. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 168419595 168429933 + 172319045 172329380 + 172386439 172396774 + 1580863 15189156;14567916;15635413;15489334;12477932;11042152;21145461;22863883;23084401;21139048;21906983;21628590;21853274 51121 E5RHH1;E5RIT6;Q9UNX3 ABBA01044034;ABBA01044035;ABBA01044036;AC008429;AF083248;AK128872;AMYH01015820;BC009766;BC017360;BC070192;CH471062;NM_016093 AAD39846;AAH17360;AAH70192;ABM83543;ABM86783;BAG54744;EAW61420;EAW61421;NP_057177;Q9UNX3 Hs.546390 1667038;1685021 RH76715;STS-T97510 FLJ46904;RPL26P1 60S ribosomal protein L26-like 1;OTTHUMP00000161072;OTTHUMP00000223519;OTTHUMP00000223520;OTTHUMP00000223521;OTTHUMP00000223522;ribosomal protein L26 homolog;ribosomal protein L26 pseudogene 1 APPROVED protein-coding ENSG00000037241 17050 17993 REVIEWED 1353029 RPL29P1 ribosomal protein L29 pseudogene 1 6 6 6 p24.3 8850422 8850884 + 7565554 7566216 + 7620656 7621118 + 19123937 134756 ABBA01022046;AL390026;AMYH01016064;NG_003155 RPL29_5_654;dJ336K20B.2 pseudo 21593 INFERRED 2305261 RPL29P10 ribosomal protein L29 pseudogene 10 3 3 p21 52007041 52007412 - 52027765 52028142 - 19123937 100270973 ABBA01024516;AC115284;AMYH01013181 2217924 RPL29_3440 RPL29_3_370 pseudo 36054 MODEL 2305334 RPL29P11 ribosomal protein L29 pseudogene 11 3 3 3 p22.2 37000654 37001290 - 37032875 37035671 - 37057889 37058525 - 21145461;19123937;21628590 100131713 ABBA01024859;AC011816;AMYH01013086;NG_007109;NG_010671 1739561;1744633 D3S3458;GDB:549098 RPL29_2_362 pseudo 36905 INFERRED 731426 RPL24 ribosomal protein L24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 3 q12 99793041 99798669 - 102882624 102888253 - 101399934 101405563 - 6480464 9582194;15231747;17220478;17353931;15189156;14567916;17081983;15489334;12962325;12477932;11875025;11401437;8722009;8428672;8012384;7821789;21145461;20391533;23084401;23184937;21182205;22863883;22939629;16196087;19167051;21151833;18274552;18457437;18781797;19596686;19850743;20639865;20972266;21139048;21906983;22178446;16009940;17361185;21628590;22354994;17203973;22053931;22505724 6152 C9JNW5;C9JXB8;P83731 AB007177;AB061828;ABBA01061771;AC084198;AK311992;AMYH01013360;BC000690;BC070193;BU754101;CD513036;CH471052;CR456729;D28400;M94314;NM_000986;Z64316 AAC28251;AAH00690;AAH70193;ABM83547;ABM86787;BAA05766;BAA25836;BAB79466;BAG34930;CAG33010;EAW79780;EAW79781;EAW79782;EAW79783;EAW79784;NP_000977;P83731 Hs.477028;Hs.547172;Hs.649475 2163636;2183299;5091724;5117184 GDB:451646;RH47183;SGC32636;SHGC-77157 L24 60S ribosomal protein L24;60S ribosomal protein L30;OTTHUMP00000214161;OTTHUMP00000214162;OTTHUMP00000214387;ribosomal protein L30 APPROVED protein-coding ENSG00000114391 10325 10365 604180 REVIEWED 2305856 RPL29P12 ribosomal protein L29 pseudogene 12 5 5 5 p12 43559141 43559779 - 43702489 43703132 - 43666736 43667374 - 19123937 283412 ABBA01024260;AC010435;AMYH01015060;NG_010090;NG_032869 RPL29_6_558 pseudo 36608 INFERRED 2305260 RPL29P14 ribosomal protein L29 pseudogene 14 5 5 q32 145006757 145007331 - 148924833 148925407 - 19123937 100270974 ABBA01026304;AC021078;AMYH01015701;NG_010651 1684981 RH91934 RPL29_7_626 pseudo 36687 INFERRED 2304978 RPL29P15 ribosomal protein L29 pseudogene 15 5 5 5 q14.1 74706031 74706666 + 78841973 78842476 + 78806205 78806840 + 19123937 728820 ABBA01062017;AC093270;AMYH01015437;NG_011265 RPL29_4_582 pseudo 36159 INFERRED 2305603 RPL29P16 ribosomal protein L29 pseudogene 16 6 6 6 p21.1 45610005 45610643 - 44160604 44180106 - 44056862 44057500 - 19123937 100131206 ABBA01050653;AL109615;AMYH01016319;NG_010701 RPL29_9_696 pseudo 36898 INFERRED 2305735 RPL29P13 ribosomal protein L29 pseudogene 13 5 5 5 p15.2 13663080 13663676 - 13691024 13691488 - 13637900 13638496 - 19123937 391738 ABBA01020630;AC016546;AMYH01014920;NG_010310 RPL29_5_543 pseudo 36461 INFERRED 2304502 RPL29P17 ribosomal protein L29 pseudogene 17 6 6 6 p22.3 21275686 21276329 - 20042573 20043216 - 20042573 20043216 - 19123937 645224 ABBA01022248;AL008627;AMYH01016133;NG_011367 1334635 D6S1678 RPL29_8_665 pseudo 36910 INFERRED 2305593 RPL29P18 ribosomal protein L29 pseudogene 18 8 8 8 q22.3 102210442 102211052 + 106092457 106092972 + 106023295 106023905 + 19123937 644103 ABBA01037656;AC090142;AMYH01018947;NG_010002 RPL29_8_938 pseudo 36327 INFERRED 1348877 RPL29P2 ribosomal protein L29 pseudogene 2 17 17 17 p13 7684000 7684656 + 7598363 7599019 + 7657638 7658294 + 19123937 118432 ABBA01054885;AC087388;AF085886;AMYH01008085;NR_002778 Hs.658086 1652547;5019020 G42918;SGC30770 RPL29_10_1510 pseudo 17334 PROVISIONAL 1321610 RPL26 ribosomal protein L26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 p13 8311586 8317314 - 8221559 8227290 - 8280834 8286565 - 6480464 22433872;17361185;21145461;21319273;22431104;8479925;17353931;15189156;14567916;15489334;12477932;11875025;11790298;11401437;9582194;8722009;16169070;18697920;18951086;19615732;23084401;23169665;22868929;12962325;16196087;23398456;23455922;23463506;20562864;22863883;19738201;21963094;21988832;22190735;22623428;23000965;23246001;12777385;18274552;18457437;19596686;19850743;21045808;20542919;21139048;21693764;21890473;21906983;19471022;17620599;22586326 6154 J3KS10;J3KSS0;J3KTJ8;J3QQV1;J3QRC4;J3QRI7;P61254 AB061829;ABBA01054916;AC135178;AK311804;AMYH01008090;BC066316;BC071664;BI091167;BM928617;CH471108;CR456828;L07287;NG_031989;NM_000987 AAA60279;AAH71664;BAB79467;BAG34747;CAG33109;EAW90053;EAW90054;EAW90057;NP_000978;P61254 Hs.482144;Hs.644794;Hs.744896 2132365 D17S1277 DBA11;L26 60S ribosomal protein L26;OTTHUMP00000135333 APPROVED protein-coding ENSG00000161970 10327 04746 603704;614900 REVIEWED 2305340 RPL29P20 ribosomal protein L29 pseudogene 20 9 9 9 q32 85434692 85435291 - 113975623 113976072 - 114935694 114936293 - 19123937 100129332 ABBA01042714;AL158824;AMYH01021644;NG_010275 RPL29_10_1009 pseudo 36682 INFERRED 2305631 RPL29P19 ribosomal protein L29 pseudogene 19 8 8 8 q11.21 45284338 45284993 + 49459705 49460174 + 49297097 49297752 + 19123937 389655 ABBA01041654;AC041040;AMYH01018704;NG_010114 RPL29_7_901 pseudo 35508 INFERRED 2305873 RPL29P21 ribosomal protein L29 pseudogene 21 11 11 p15.1 17169271 17172541 + 17214991 17215974 + 19123937 732199 ABBA01061068;AC107956;AMYH01003414;NG_010211 RPL29_9_1124 pseudo 36322 INFERRED 2304666 RPL29P22 ribosomal protein L29 pseudogene 22 11 11 11 q11 60207319 60207935 - 62883239 62883855 - 62883239 62883855 - 19123937 100271472 ABBA01003253;AMYH01003693;AP001858;NG_010578 RPL29_12_1148 pseudo ENSG00000239924 35675 INFERRED 2305759 RPL29P23 ribosomal protein L29 pseudogene 23 11 11 11 p13 33358129 33358768 - 33168341 33168499 - 33211461 33212100 - 19123937 646077 ABBA01060898;AC131263;AMYH01003483;NG_011381 RPL29_11_1134 pseudo 35946 INFERRED 2305099 RPL29P24 ribosomal protein L29 pseudogene 24 12 12 12 q24.31 120594653 120595565 - 119444847 119445629 - 120960342 120961254 - 19123937 100129591 ABBA01020127;AC063943;AMYH01004802;NG_010294 RPL29_16_1290 pseudo 35616 INFERRED 2305811 RPL29P26 ribosomal protein L29 pseudogene 26 12 12 12 q22 95531932 95532546 - 94385165 94385794 - 95861038 95861652 - 19123937 643531 ABBA01053336;AC018475;AMYH01004671;NG_011051 1652547 SGC30770 RPL29_14_1268 pseudo 35717 INFERRED 2304986 RPL29P25 ribosomal protein L29 pseudogene 25 12 12 12 q24.11 110906054 110906501 - 109763723 109764574 - 111279361 111279808 - 19123937 642493 ABBA01005123;AC002375;AMYH01004747;NG_011380 RPL29_15_1277 pseudo 37039 INFERRED 2304665 RPL29P29 ribosomal protein L29 pseudogene 29 13 13 13 q31.2 69730047 69730454 - 88888817 88889224 - 88888817 88889224 - 19123937 100271474 ABBA01027268;AL445210;AMYH01005274;NG_010587 RPL29_18_1328 pseudo 36577 INFERRED 2305778 RPL29P27 ribosomal protein L29 pseudogene 27 12 12 12 p11.22 33863442 33864066 - 28608875 28609368 - 28717480 28718104 - 19123937 100130792 ABBA01068061;AC084754;AMYH01004357;NG_011196 RPL29_13_1221 pseudo 35551 INFERRED 2305470 RPL29P28 ribosomal protein L29 pseudogene 28 13 13 q13.1 18567860 18568253 - 37500575 37500968 - 19123937 646884 ABBA01021350;AL138706;AMYH01005041;CH471075;NG_011177 EAX08576 RPL29_17_1307 pseudo 36842 INFERRED 2303320 RPL29P3 ribosomal protein L29 pseudogene 3 14 14 14 q13.3 16910142 16910783 - 36116372 36116979 - 37046599 37047240 - 19123937 729042 ABBA01061527;AL079303;AMYH01005674;NG_009496 RPL29_19_1356 pseudo 23565 INFERRED 2305635 RPL29P31 ribosomal protein L29 pseudogene 31 17 17 17 q21.31 38263218 38263833 + 38909092 38909559 + 41553522 41554137 + 19123937 284064 ABBA01028412;AC087650;AMYH01008408;NG_010842 RPL29_11_1549 pseudo 35944 INFERRED 2304506 RPL29P32 ribosomal protein L29 pseudogene 32 18 18 18 q21.2 47987719 47988078 - 49385597 49386001 - 51131644 51132003 - 19123937 390856 ABBA01018708;AC015524;AMYH01009008;NG_009579 RPL29_21_1603 pseudo 35834 INFERRED 2305521 RPL29P33 ribosomal protein L29 pseudogene 33 19 19 19 q13.11 31488810 31489428 - 39479021 39482452 - 34787071 34787689 - 19123937 401911 ABBA01004334;AC010614;AMYH01009713;NG_011283 RPL29_22_1650 pseudo 36923 INFERRED 2305908 RPL29P30 ribosomal protein L29 pseudogene 30 15 15 15 q23 47979754 47980380 - 68875911 68882077 - 71088859 71089485 - 19123937;21628590;21987572;21145461 729611 ABBA01038750;AC009269;AMYH01006748;CH471082;NG_010026 EAW77858 1652547 SGC30770 RPL29_20_1448 pseudo 36601 INFERRED 1343829 RPL29P4 ribosomal protein L29 pseudogene 4 6 6 6 q22.2 119063055 119063714 + 118426784 118427419 + 118320091 118320745 + 19123937 387101 Q5T1D1 ABBA01026030;AL450405;AMYH01016621;NG_006976 RPL29P3;RPL29_6_745;bA632C17A.1 pseudo 21482 INFERRED 2305262 RPL29P7 ribosomal protein L29 pseudogene 7 1 1 q24.2 142017462 142018093 + 168907654 168908285 + 19123937 100270972 ABBA01027957;AL135926;AMYH01001488;NG_010639 1692154 AL033711 RPL29_3_121 pseudo 36859 INFERRED 2304397 RPL29P6 ribosomal protein L29 pseudogene 6 1 1 1 p36.12 21893357 21893973 + 23443820 23444311 + 23571222 23571838 + 19123937 391019 ABBA01059865;AL109936;AMYH01000359;NG_010556 RPL29_1_20 pseudo 36627 INFERRED 2305619 RPL29P5 ribosomal protein L29 pseudogene 5 1 1 1 p31.1 74287593 74288214 + 75820369 75820835 + 76047736 76048357 + 19123937 646417 ABBA01074420;AL096829;AMYH01000713;NG_010073 RPL29_2_63 pseudo 36786 INFERRED 2304979 RPL29P9 ribosomal protein L29 pseudogene 9 3 3 3 q27.3 185072167 185072815 - 188122769 188123251 - 186639941 186640589 - 19123937 647285 ABBA01058379;AC007690;AMYH01013741;NG_010609 2112658 D3S4390 RPL29_4_447 pseudo 35729 INFERRED 2305091 RPL29P8 ribosomal protein L29 pseudogene 8 2 2 2 q31.1 171274132 171276846 - 177380008 177382722 - 177671762 177674476 - 19123937 100131991 ABBA01062225;AC092162;AMYH01011295;CH471058;NG_010798 EAX11069 RPL29_1_300 pseudo 37026 INFERRED 2305259 RPL30P1 ribosomal protein L30 pseudogene 1 1 1 q25.1 147168731 147169069 - 174059272 174059610 - 19123937 100270975 ABBA01027889;AL121983;AMYH01001506;NG_010656 RPL30_1_127 pseudo 36642 INFERRED 2305252 RPL30P10 ribosomal protein L30 pseudogene 10 8 8 q12.1 54298578 54298914 + 58305105 58305441 + 19123937 100270982 ABBA01041779;AC068075;AMYH01018741;NG_010695 RPL30_5_906 pseudo 36822 INFERRED 2304840 RPL30P11 ribosomal protein L30 pseudogene 11 12 12 12 p13.1 19654891 19655163 - 14509799 14510071 - 14509799 14510071 - 19123937 100271303 ABBA01067875;AC007782;AMYH01004301;NG_011030 RPL30_6_1213 pseudo 36260 INFERRED 2304839 RPL30P12 ribosomal protein L30 pseudogene 12 12 12 12 q23.3 106970118 106970473 + 107304535 107304890 + 107304535 107304890 + 19123937 100271304 ABBA01053160;AC007695;AMYH01004725;NG_011034 RPL30_6_1274 pseudo 36909 INFERRED 1320286 RPL27A ribosomal protein L27a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 11 p15 8821627 8829051 + 8660571 8667995 + 8703995 8711419 + 1580863;6480464 7772601;15189156;14567916;15489334;14702039;12477932;11790298;10449908;9582194;8722009;11751223;21145461;21319273;20935630;17549794;21182205;22863883;23084401;22939629;12962325;16196087;19167051;12777385;16051665;18457437;18781797;21890473;21906983;21987572;22178446;16009940;17361185;21628590;15576338 6157 E9PJD9;E9PKT2;E9PLL6;E9PLX7;H0YF34;P46776 AB007178;AB020236;ABBA01061210;AC091053;AI809856;AJ400879;AK125453;AK311767;AMYH01003377;BC004284;BC005326;BC014919;BC020169;BC066326;BG687024;BQ058236;CH471064;NM_000990;U14968 AAA85656;AAH05326;AAH20169;AAH66326;BAA25837;BAA77361;BAG34710;CAC35388;EAW68619;NP_000981;P46776 Hs.523463 1846554;2116450;2125554;2166423;2166425;2189341;5014037;5014051;5020946;5021396;5117180 D11S4394;D11S4724;D8S2278;FB22B6;GDB:313783;GDB:451637;L17971;MARC_1767-1768:991931306:1;RP_L27A_1;SGC31250;T03647 FLJ43464;L27A;MGC10850;MGC17878;MGC87238 60S ribosomal protein L27a;OTTHUMP00000231158;OTTHUMP00000231159;OTTHUMP00000231162 APPROVED protein-coding ENSG00000166441 10329 04701 603637 REVIEWED 735597 RPL27 ribosomal protein L27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L27E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 17 17 17 q21 37806712 37811248 + 38403972 38408502 + 41150446 41154976 + 6480464 8148381;15189156;14567916;15635413;15489334;14702039;12477932;11875025;11790298;11401437;8722009;7581362;21145461;21319273;22863883;7545954;1302024;18809582;22939629;12962325;16196087;18274552;19167051;21139048;21890473;21906983;21628590;21853274;22174317 6155 K7ELC7;K7EQQ9;K7ERY7;P61353 AB061851;ABBA01006394;ABBA01006395;AC055866;AK124148;AK311792;AMYH01008400;AV712491;BC001700;BC002588;BC007273;BC010026;BC021886;BC098560;CH471152;L05094;L19527;L25346;NM_000988;U25752 AAA19815;AAA93226;AAC15857;AAH01700;AAH02588;AAH07273;AAH10026;AAH98560;ABM83489;ABM86705;BAB79492;BAG34735;EAW60909;EAW60910;EAW60911;EAW60912;EAW60913;NP_000979;P61353 Hs.514196;Hs.660076 5022167 RP_L27 L27 60S ribosomal protein L27 APPROVED protein-coding ENSG00000131469 10328 09602 607526 REVIEWED 2304733 RPL30P14 ribosomal protein L30 pseudogene 14 18 18 18 q21.33 55789928 55790395 - 57223071 57223418 - 59072041 59072508 - 19123937 100129867 ABBA01056185;AC006203;AMYH01009045;NG_010405 2167937;2189339 D8S1655;MARC_1295-1296:991931143:1 RPL30_8_1609 pseudo 36257 INFERRED 2304838 RPL30P13 ribosomal protein L30 pseudogene 13 12 12 12 q12 39265259 39265677 - 40462042 40462460 - 40462042 40462460 - 19123937 100271305 ABBA01049541;AC117403;AMYH01004393;NG_011039 1799034;1800820;1911148;1911150;1911152;1911154;1911156;1911158;1911160;1911162;1911164;1911166;1911168;1911170;2200686;2200688 ECD00362;ECD01272;REN26383;REN26384;REN26385;REN26386;REN26387;REN26388;REN26389;REN26390;REN26391;REN26392;REN26393;REN26394;stSG619760;stSG619761 RPL30_7_1228 pseudo 36280 INFERRED 7243372 RPL30P16 ribosomal protein L30 pseudogene 16 100289099 ABBA01037740;AC087710;AMYH01018968;NG_030257 pseudo 48340 INFERRED 2305000 RPL30P15 ribosomal protein L30 pseudogene 15 X X p22 17709866 17710296 + 13592760 13593190 + 19123937 100271192 ABBA01071118;AC079383;AMYH01022095;NG_010459;NG_015963 RPL30_7_1765 pseudo 36542 INFERRED 2305258 RPL30P2 ribosomal protein L30 pseudogene 2 2 2 q23.3 146602741 146603061 + 152988078 152988398 + 19123937 100270976 ABBA01004787;AC079790;AMYH01011181;NG_010662 RPL30_1_286 pseudo 35642 INFERRED 2305257 RPL30P3 ribosomal protein L30 pseudogene 3 2 2 p25 9136105 9136507 - 9221522 9221924 - 19123937 100270977 ABBA01015574;AC093904;AMYH01010092;NG_010666 RPL30_2_193 pseudo 36380 INFERRED 2305601 RPL30P4 ribosomal protein L30 pseudogene 4 3 3 3 p22.3 32613753 32614211 - 32651711 32652050 - 32676657 32677131 - 19123937 100131230 ABBA01024934;AC138972;AMYH01013063;NG_009720 2167937;2189339 D8S1655;MARC_1295-1296:991931143:1 RPL30_3_359 pseudo 35871 INFERRED 2305255 RPL30P7 ribosomal protein L30 pseudogene 7 5 5 p15.2 10526957 10527395 + 10488864 10489302 + 19123937 100270979 ABBA01020601;AC092336;AMYH01014904;NG_010677 RPL30_3_541 pseudo 36402 INFERRED 2305256 RPL30P5 ribosomal protein L30 pseudogene 5 4 4 q21.23 81714284 81714619 + 84423852 84424187 + 19123937 100270978 ABBA01063465;AC096768;AMYH01014360;NG_010673 RPL30_2_497 pseudo ENSG00000239525 36302 INFERRED 2305254 RPL30P6 ribosomal protein L30 pseudogene 6 4 4 q22.3 93862719 93863057 - 96566103 96566441 - 19123937 100270980 ABBA01063634;AC093832;AMYH01014408;NG_010684 RPL30_4_501 pseudo 37015 INFERRED 2305253 RPL30P9 ribosomal protein L30 pseudogene 9 8 8 p22 18933792 18934113 - 19970847 19971168 - 19123937 100270981 ABBA01021551;AC100802;AMYH01018558;NG_010689 RPL30_5_882 pseudo 35763 INFERRED 2304965 RPL30P8 ribosomal protein L30 pseudogene 8 6 6 6 q21 114892418 114897362 + 114257718 114267500 + 114151025 114155968 + 21145461;19123937 100132053 ABBA01026064;AL132660;AL671966;AMYH01016606;NG_011102 1334888;7185376 D6S261 RPL30_4_741 pseudo 36058 INFERRED 1347165 RPL31P1 ribosomal protein L31 pseudogene 1 21 21 21 q22.3 30077606 30078054 + 43795447 43796051 + 44971078 44971526 + 19123937;10830953 54027 ABBA01074126;AP001050;AP001751;NG_000908;NG_011491 RPL31P;RPL31_35_1734 pseudo 10335 INFERRED 1603146 RPL31P10 ribosomal protein L31 pseudogene 10 12 12 12 p13.31 8136036 8136480 - 6389056 6405645 - 6518762 6519206 - 19123937 390283 ABBA01017642;AC005840;AMYH01004202;NG_009396 RPL31_15_1198 pseudo 33180 INFERRED 2305393 RPL31P12 ribosomal protein L31 pseudogene 12 1 1 p31.1 81995667 81996093 - 72767128 72767554 + 19123937 100270887 ABBA01074458;AL512292;NG_010207 RPL31_1_62 pseudo 35546 INFERRED 2305251 RPL31P13 ribosomal protein L31 pseudogene 13 1 1 q32.3 186823427 186823774 - 213602060 213602407 - 19123937 100270983 ABBA01048155;AL592402;AMYH01001716;NG_010703 RPL31_2_164 pseudo 35598 INFERRED 2305341 RPL31P14 ribosomal protein L31 pseudogene 14 2 2 2 q35 211418357 211418801 - 217358735 217359098 - 217650458 217650902 - 19123937 100129310 ABBA01062825;AC007563;AMYH01011492;NG_010159 RPL31_4_324 pseudo 35477 INFERRED 737093 RPL29 ribosomal protein L29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 p21.3-p21.2 52002684 52004998 - 52027765 52028142 - 1580863;6480464 7821789;8597591;8662616;17353931;15189156;14567916;18980226;17620340;16475173;16169070;15721314;15635413;15489334;12962325;12659638;12477932;11803571;11401437;10833435;10353821;9403071;9371517;8722009;8662617;6468376;20554519;21182205;22863883;22990118;22939629;18274552;18781797;20639865;21139048;21890473;21906983;22178446;16196087;21151833;19123937;22868929 6159 C9IYI4;F8WF43;P47914 ABBA01024516;AC115284;AK289538;AK311884;AMYH01013181;BC008926;BC018943;BC070190;BC070481;BC071663;BC071909;CH471055;D28412;NM_000992;U10248;U49083;Z49148 AAC50499;AAC50647;AAH08926;AAH70190;AAH70481;AAH71663;AAH71909;ABM84153;BAA05778;BAF82227;BAG34825;CAA89008;EAW65182;EAW65183;NP_000983;P47914 Hs.425125 2217924;5019020;5106629 D20S1103;G42918;RPL29_3440 HIP;HUMRPL29;L29;MGC88589;RPL29P10;RPL29_3_370 60S ribosomal protein L29;HP/HS-interacting protein;OTTHUMP00000212470;OTTHUMP00000212473;OTTHUMP00000212474;OTTHUMP00000212475;OTTHUMP00000212476;OTTHUMP00000212477;cell surface heparin-binding protein HIP;heparin/heparan sulfate-binding protein;heparin/heparan sulfate-interacting protein;ribosomal protein YL43 homologue APPROVED protein-coding ENSG00000162244 10331 03495 601832 REVIEWED 2305250 RPL31P15 ribosomal protein L31 pseudogene 15 2 2 qter 177249067 177249401 + 183652828 183653162 + 19123937 100270984 ABBA01062301;AC105396;AMYH01011319;NG_010707 RPL31_3_303 pseudo 36339 INFERRED 2305222 RPL31P16 ribosomal protein L31 pseudogene 16 2 2 2 p22.2 37262259 37262925 - 37274795 37277194 - 37421236 37421902 - 19123937 100129418 ABBA01074978;AC007390;AMYH01010259;NG_010720 RPL31_3_207 pseudo 36001 INFERRED 2305578 RPL31P17 ribosomal protein L31 pseudogene 17 2 2 2 q36.1 217359065 217359510 + 223299399 223299806 + 223591149 223591594 + 6480464 19123937 653773 ABBA01023812;AC016712;AMYH01011518;NG_011063 RPL31_4_330 pseudo 36995 INFERRED 2305249 RPL31P19 ribosomal protein L31 pseudogene 19 3 3 p24.3 17445564 17445981 + 17506623 17507040 + 19123937 100270985 ABBA01025123;AC140076;AMYH01013004;NG_010711 RPL31_5_346 pseudo 35589 INFERRED 1345226 RPL31P2 ribosomal protein L31 pseudogene 2 20 20 20 q11.2 29092651 29093090 - 31803533 31804111 - 32339934 32340373 - 19123937 140753 ABBA01019219;AL050349;AMYH01011860;NG_000996 RPL31_25_1695;dJ553F4.5 pseudo 16575 INFERRED 2304513 RPL31P18 ribosomal protein L31 pseudogene 18 3 3 3 p22.3 32486512 32486943 + 32524424 32524821 + 32549423 32549854 + 19123937 285260 ABBA01024939;AC104306;AMYH01013060;NG_010408 RPL31_7_358 pseudo 35833 INFERRED 2305248 RPL31P20 ribosomal protein L31 pseudogene 20 3 3 p24.2 24408023 24408365 + 24472257 24472599 + 19123937 100270986 ABBA01025030;AC112217;AMYH01013033;NG_010717 RPL31_6_349 pseudo 36303 INFERRED 2305246 RPL31P21 ribosomal protein L31 pseudogene 21 3 3 q23 139400708 139401069 + 140977260 140977621 + 19123937 100270988 ABBA01059049;AC022215;AMYH01013542;NG_010728 RPL31_8_410 pseudo 36245 INFERRED 2305245 RPL31P22 ribosomal protein L31 pseudogene 22 3 3 q29 193478804 193479159 + 195070404 195070759 + 19123937 100270989 ABBA01001611;AC090018;AMYH01013786;NG_010734 RPL31_9_449 pseudo 36430 INFERRED 2304998 RPL31P24 ribosomal protein L31 pseudogene 24 4 4 q22 86376310 86376781 + 89084691 89085162 + 19123937 100271194 ABBA01063545;AC097484;AMYH01014383;NG_010468 RPL31_11_499 pseudo 36353 INFERRED 2305247 RPL31P25 ribosomal protein L31 pseudogene 25 4 4 p15.31 22108587 22108912 - 21658146 21658471 - 19123937 100270987 ABBA01032655;AC096576;AMYH01014052;NG_010723 1668220;1771387 SHGC-30526;STS-F04275 RPL31_6_464 pseudo 36698 INFERRED 2305815 RPL31P23 ribosomal protein L31 pseudogene 23 3 3 3 q22.3 134349697 134350141 - 137407072 137407447 - 135924331 135924775 - 19123937 391581 ABBA01059130;AC092991;AMYH01013520;NG_009581 RPL31_5_407 pseudo 36096 VALIDATED 2305866 RPL31P26 ribosomal protein L31 pseudogene 26 4 4 4 q31.22 145668214 145668647 - 148566576 148566953 - 148347082 148347515 - 19123937 100130537 ABBA01070057;AC010683;AMYH01014601;NG_011206 RPL31_7_527 pseudo 36063 INFERRED 2304995 RPL31P27 ribosomal protein L31 pseudogene 27 6 6 q24.2 144388777 144389238 + 143648371 143648832 + 19123937 100271198 ABBA01025751;AL136116;AMYH01016721;NG_010490 RPL31_15_765 pseudo 36275 INFERRED 2305697 RPL31P28 ribosomal protein L31 pseudogene 28 6 6 6 p12.1 54881620 54882065 + 53327272 53327822 + 53219459 53219904 + 19123937 442217 ABBA01050537;AL034374;AMYH01016360;NG_010544 RPL31_12_703 pseudo 36253 INFERRED 2305244 RPL31P29 ribosomal protein L31 pseudogene 29 6 6 q25.2 155661062 155661365 - 154926759 154927062 - 19123937 100270990 ABBA01025592;AL591419;AMYH01016757;NG_010740 RPL31_9_773 pseudo 36647 INFERRED 1353886 RPL31P3 ribosomal protein L31 pseudogene 3 20 20 20 p11-q11 26655273 26656124 - 29362767 29363418 - 29899007 29899858 - 19123937 140718 ABBA01019310;AL031650;AMYH01011828;NG_000989 RPL31_24_1693;dJ1018D12.4 pseudo 16549 INFERRED 2304495 RPL31P30 ribosomal protein L31 pseudogene 30 2 2 2 p15 61928741 61929108 + 61936881 61938234 + 62083830 62084197 + 19123937 729203 ABBA01075372;AC107081;AMYH01010388;NG_011371;NG_028125 RPL31_2_226 pseudo 35679 INFERRED 2305718 RPL31P31 ribosomal protein L31 pseudogene 31 4 4 4 p15.1 34409449 34409869 + 33646191 33646352 + 33969769 33970189 + 19123937 727792 ABBA01074275;AC016687;AMYH01014104;NG_011387 RPL31_10_468 pseudo 35678 INFERRED 2305689 RPL31P32 ribosomal protein L31 pseudogene 32 6 6 6 q14.3 86394195 86394648 + 86023819 86024007 + 85967006 85967459 + 19123937 643851 ABBA01040472;AL122016;AMYH01016480;NG_011350 RPL31_14_719 pseudo 35719 INFERRED 2305696 RPL31P33 ribosomal protein L31 pseudogene 33 6 6 6 p12.1 54895623 54895979 + 53341400 53341783 + 53233468 53233824 + 19123937 442218 ABBA01050537;AL591034;AMYH01016360;NG_011369 RPL31_13_704 pseudo 36886 INFERRED 733961 RPL28 ribosomal protein L28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008] 19 19 19 q13.4 52938123 52944274 + 60589112 60595265 + 55897300 55903453 + 1580863;6480464 7772601;17353931;15189156;14567916;16344560;15635413;15489334;15342556;15231748;15121898;21145461;21319273;14702039;12962325;12704204;12477932;11751223;9582194;8889548;8722009;7821789;4022011;16169070;16541025;19834535;21182205;22863883;16196087;20434207;19596686;21139048;21890473;21906983;21987572;18632687;21628590;17620599;18029348;15064750;23084401;22505724 6158 H0YKD8;H0YLP6;H0YMF4;Q9BWQ0 AB007179;AB209627;ABBA01068098;AC020922;AK025866;AK096870;AK125297;AK293736;AK311760;AMYH01009997;BC010173;BC010182;BC011582;BC015398;BM702093;BP227047;CH471135;CR457024;D28451;DA092122;DA333143;DA820669;HI574010;NM_000991;NM_001136134;NM_001136135;NM_001136136;NM_001136137;U14969 AAA85657;AAH10173;AAH10182;AAH11582;ABM83969;ABM87286;BAA05817;BAA25838;BAD92864;BAG34703;BAG57160;CAG33305;CBX47494;EAW72374;EAW72375;EAW72376;NP_000982;NP_001129606;NP_001129607;NP_001129608;NP_001129609;P46779 Hs.652114 1769522;1769524;1850152;2122132;2142284;5022588;5113801;5118802 D11S3665;D19S1019;D5S1597E;G18045;RH15813;RP_L28_1;STS-Z40699;WI-15387 FLJ43307;L28 60S ribosomal protein L28 APPROVED protein-coding ENSG00000108107 10330 04702 603638 REVIEWED 2304999 RPL31P34 ribosomal protein L31 pseudogene 34 7 7 7 p22.1 6204462 6204822 + 6530372 6530732 - 6530372 6530732 - 19123937 100271193 AACC02000122;ABBA01056492;AC072052;AMYH01017039;CH236963;NG_010464 RPL31_10_781 pseudo 35853 INFERRED 2304994 RPL31P35 ribosomal protein L31 pseudogene 35 7 7 7 p11.2 54829630 54830090 + 54724008 54724468 + 54724008 54724468 + 19123937;23251661 100271199 AACC02000089;ABBA01011844;AC011228;AMYH01017266;CH236957;NG_010493 RPL31_16_810 pseudo 36932 INFERRED 2304963 RPL31P36 ribosomal protein L31 pseudogene 36 7 7 7 q32 125955826 125956258 + 131204873 131205305 + 131204873 131205305 + 19123937 100271200 AACC02000027;ABBA01057558;AC008264;AMYH01017943;CH236950;NG_010497 RPL31_19_846 pseudo 36676 INFERRED 2305505 RPL31P37 ribosomal protein L31 pseudogene 37 7 7 7 q31.32 116683809 116684249 + 121661821 121662197 + 121874562 121875002 + 19123937;9847074 646787 AACC02000001;ABBA01057750;AC015983;AMYH01017898;CH236947;NG_009411 RPL31_18_839 pseudo 36197 INFERRED 2305662 RPL31P38 ribosomal protein L31 pseudogene 38 7 7 7 q11.21 65736239 65736652 - 66017003 66017358 + 66379557 66379970 + 19123937 442326 ABBA01048961;AC073335;AMYH01017491;NG_011108 RPL31_17_813 pseudo 36834 INFERRED 2305594 RPL31P39 ribosomal protein L31 pseudogene 39 7 7 7 q31.33 119747882 119748323 - 124940517 124940958 - 124940517 124940958 - 19123937 641790 AACC02000001;ABBA01057701;AC010099;AMYH01017909;CH236947;NG_009415 RPL31_11_842 pseudo 35995 VALIDATED 1602626 RPL31P4 ribosomal protein L31 pseudogene 4 14 14 14 q23.1 39311371 39311812 + 58329408 58337533 + 59261348 59261789 + 19123937 729646 ABBA01018267;AL049873;AMYH01005763;NG_009376 1647635;2167467 G36280;T02877 RPL31_28_1375 pseudo 23546 INFERRED 2304997 RPL31P40 ribosomal protein L31 pseudogene 40 8 8 q13.2 65199111 65199390 - 69205772 69206051 - 19123937 100271196 ABBA01041911;AC103783;AMYH01018779;NG_010480 RPL31_12_911 pseudo 36134 INFERRED 2304962 RPL31P41 ribosomal protein L31 pseudogene 41 8 8 8 q13.1 62058325 62058696 + 66067642 66068013 + 66067642 66068013 + 19123937 100271201 ABBA01041858;AC104343;AMYH01018766;NG_010501 RPL31_20_909 pseudo 36720 INFERRED 2305522 RPL31P43 ribosomal protein L31 pseudogene 43 9 9 9 q31.2 81301439 81301884 + 109842142 109842702 + 110802466 110802911 + 19123937 392382 ABBA01042779;AC068050;AMYH01021616;NG_010985 RPL31_21_1004 pseudo 36512 INFERRED 2305729 RPL31P11 ribosomal protein L31 pseudogene 11 1 1 1 q23.3 134756932 134758490 - 159920109 159921666 - 161653485 161655042 - 19123937;12477932 641311 ABBA01047315;AL359541;AL451067;AMYH01001463;BC052594;NR_002595 Hs.625293 5127449 D2S2662 RPL31_1_108 pseudo ENSG00000213075 35849 PROVISIONAL 2305362 RPL31P44 ribosomal protein L31 pseudogene 44 10 10 10 q21.1 47411868 47412328 - 53818872 53823057 - 54148825 54149285 - 19123937 644522 ABBA01052512;AC009986;AMYH01002742;NG_010889 RPL31_14_1046 pseudo 35523 INFERRED 2304412 RPL31P45 ribosomal protein L31 pseudogene 45 10 10 10 p12.31 22243632 22243847 + 22595926 22596141 + 22555919 22556134 + 19123937;11181995 729308 ABBA01034482;AL158211;AMYH01002179;CH471072;NG_011137 EAW86156;EAW86157 RPL31_22_1025 pseudo 36796 INFERRED 2304660 RPL31P46 ribosomal protein L31 pseudogene 46 11 11 11 q13.4 71937183 71937614 + 74630620 74631051 + 74630620 74631051 + 19123937 100271479 ABBA01017477;AP001992;NG_010617 RPL31_23_1157 pseudo 35559 INFERRED 2304658 RPL31P47 ribosomal protein L31 pseudogene 47 11 11 11 q24.1 120081162 120081520 + 122921834 122922192 + 122921834 122922192 + 19123937 100271481 ABBA01031277;AMYH01004098;AP000926;NG_010626 RPL31_24_1186 pseudo 36124 INFERRED 2304996 RPL31P42 ribosomal protein L31 pseudogene 42 9 9 p22.2 17037067 17037400 - 17108299 17108632 - 19123937 100271197 ABBA01065247;AL162725;AMYH01019258;NG_010485 RPL31_13_966 pseudo 36930 INFERRED 2304732 RPL31P49 ribosomal protein L31 pseudogene 49 12 12 12 q24.11 110525526 110525967 + 109383159 109383557 + 110898765 110899206 + 6480464 19123937 100129882 ABBA01005109;AC002350;AMYH01004743;NG_010470 RPL31_26_1276 pseudo 35909 INFERRED 2305912 RPL31P48 ribosomal protein L31 pseudogene 48 12 12 12 q21.1 73706777 73707223 + 72328713 72329089 + 74042420 74042866 + 19123937;23251661 645654 ABBA01026485;AC087879;AMYH01004585;NG_011352 1657833;1671774 D12S2203;D12S303 RPL31_25_1257 pseudo 36129 INFERRED 2303836 RPL31P5 ribosomal protein L31 pseudogene 5 14 14 14 q23.2 44085299 44085667 + 63099724 63104786 + 64034630 64034998 + 19123937 100129928 ABBA01018329;AL136038;AMYH01005793;NG_009395 2154107 G35771 RPL31_29_1379 pseudo 23547 INFERRED 2305740 RPL31P50 ribosomal protein L31 pseudogene 50 12 12 12 p11.21 11572384 11572686 - 31641307 31641609 - 31750040 31750342 - 19123937;11181995 341356 ABBA01031747;AC022080;AMYH01004367;CH471116;NG_006023 EAW88551 RPL31_16_1224 pseudo 36799 INFERRED 2304663 RPL31P52 ribosomal protein L31 pseudogene 52 12 12 12 q24.2 120522961 120523316 - 120888248 120888603 - 120888248 120888603 - 19123937 100271476 ABBA01020121;AL021546;AMYH01004801;NG_010601 RPL31_18_1289 pseudo 36607 INFERRED 2304664 RPL31P51 ribosomal protein L31 pseudogene 51 12 12 12 q13 53676556 53676999 - 54026519 54026962 - 54026519 54026962 - 19123937 100271475 ABBA01008350;AC073594;AMYH01004482;NG_010594 RPL31_17_1239 pseudo 35600 INFERRED 2304662 RPL31P53 ribosomal protein L31 pseudogene 53 13 13 13 q21.1 38919845 38920198 - 57965299 57965652 - 57965299 57965652 - 19123937 100271477 ABBA01037016;AL390965;AMYH01005147;NG_010607 RPL31_19_1315 pseudo 35749 INFERRED 2304656 RPL31P54 ribosomal protein L31 pseudogene 54 13 13 13 q22.3 59895393 59895744 + 78996958 78997309 + 78996958 78997309 + 19123937 100271483 ABBA01021678;AL391989;AMYH01005226;NG_010636 RPL31_27_1326 pseudo 36077 INFERRED 2305834 RPL31P55 ribosomal protein L31 pseudogene 55 15 15 15 q26.2 73407560 73407964 + 94792388 94792727 + 96991356 96991760 + 19123937 100128250 ABBA01032421;AC087477;AMYH01006952;NG_011296 RPL31_31_1463 pseudo 36982 INFERRED 2304661 RPL31P56 ribosomal protein L31 pseudogene 56 16 16 16 q11.2-q13 39900873 39901174 - 55386633 55386934 - 55386633 55386934 - 19123937 100271478 ABBA01066522;AC109462;AMYH01007680;NG_010612 RPL31_20_1484 pseudo 36336 INFERRED 2305803 RPL31P57 ribosomal protein L31 pseudogene 57 17 17 17 q23.3 56773865 56774305 - 59739368 59739782 - 62385636 62386076 - 19123937;11181995 645993 ABBA01035304;AC016489;AMYH01008556;CH471109;NG_010546 EAW94209 RPL31_21_1570 pseudo 35703 INFERRED 2304655 RPL31P58 ribosomal protein L31 pseudogene 58 17 17 17 q11 23989332 23989761 + 27129445 27129874 + 27129445 27129874 + 19123937 100271485 ABBA01015041;AC010761;AMYH01008284;NG_010646 RPL31_32_1533 pseudo 35862 INFERRED 2304659 RPL31P59 ribosomal protein L31 pseudogene 59 18 18 18 p11.3 3257498 3257819 - 3377924 3378245 - 3377924 3378245 - 19123937 100271480 ABBA01049851;AMYH01008778;AP001025;NG_010620 RPL31_23_1580 pseudo 36975 INFERRED 2303846 RPL31P6 ribosomal protein L31 pseudogene 6 15 15 q26.1 69674402 69674683 + 93262661 93262942 + 19123937 654387 ABBA01053095;AC091544;AMYH01006932;NG_009390 HsT19508;RPL31_30_1462 pseudo 31032 INFERRED 2304654 RPL31P60 ribosomal protein L31 pseudogene 60 19 19 19 q13.11 30148006 30148363 + 33454414 33454771 + 33454414 33454771 + 19123937 100271486 ABBA01039606;AC011449;AMYH01009698;NG_010653 1335734;1722869 D19S868;G60527 RPL31_33_1645 pseudo 36123 INFERRED 2304657 RPL31P62 ribosomal protein L31 pseudogene 62 22 22 22 q11.1 1196788 1197110 - 17574505 17574827 - 17574505 17574827 - 19123937 100271482 ABBA01001459;AC006946;AMYH01012423;NG_010632;NG_028257 RPL31_26_1736 pseudo 36569 INFERRED 2304653 RPL31P61 ribosomal protein L31 pseudogene 61 19 19 19 q13.12 34176914 34177353 + 37392621 37393060 + 37392621 37393060 + 19123937 100271487 ABBA01016190;AC008733;AMYH01009754;NG_010658 RPL31_34_1652 pseudo 35635 INFERRED 2304761 RPL31P63 ribosomal protein L31 pseudogene 63 X X X q13.1 68170929 68171374 + 67819914 67820359 + 67819914 67820359 + 19123937 100271392 ABBA01067370;AL732324;AMYH01022520;NG_010170 RPL31_36_1782 pseudo 35666 INFERRED 2303340 RPL31P9 ribosomal protein L31 pseudogene 9 18 18 q22.1 61523272 61523419 - 64804848 64804995 - 619464 ABBA01056262;AC113195;AMYH01009068;NG_009519 pseudo 31893 VALIDATED 1347993 RPL31P8 ribosomal protein L31 pseudogene 8 5 5 5 q12.1 56666804 56667243 - 59761386 59761959 - 59725690 59726129 - 19123937 253013 ABBA01015801;AC109486;AMYH01015107;NG_005654;NG_027957 RPL31_8_567 pseudo 31324 INFERRED 2303845 RPL31P7 ribosomal protein L31 pseudogene 7 17 17 q25.3 75204498 75204946 - 78576307 78576755 - 19123937 654391 ABBA01032118;AC109327;AC133012;AMYH01008700;NG_009391;NG_013034 RPL31_22_1578 pseudo 31325 INFERRED 2305814 RPL32P10 ribosomal protein L32 pseudogene 10 3 3 3 q26.33 179037900 179038305 - 182088152 182088557 - 180605458 180605863 - 19123937 391595 ABBA01058513;AC108734;AMYH01013693;NG_010893 RPL32_3_439 pseudo 35641 INFERRED 2305346 RPL32P11 ribosomal protein L32 pseudogene 11 3 3 3 p24.2 25727829 25728267 + 25765953 25766391 + 25790949 25791387 + 19123937 728572 ABBA01025016;AC092798;AMYH01013037;NG_011306 RPL32_2_350 pseudo 35723 INFERRED 1349837 RPL32P1 ribosomal protein L32 pseudogene 1 6 6 6 p21.3 34595851 34596563 + 33155054 33155766 + 33047076 33047788 + 19123937;6088068;3866218;2987832 6163 ABBA01038137;AL645931;AL662824;AL805913;AMYH01016240;BX120009;CR759795;CR759904;CR762479;CR847849;K03014;NG_000869;NG_033241;NG_033242;X02228 RPL32-L;RPL32P;RPL32_6_681 pseudo 10339 INFERRED 2304405 RPL32P12 ribosomal protein L32 pseudogene 12 4 4 4 p15.33 14115531 14116237 - 13258416 13259122 - 13649318 13650024 - 19123937 731741 ABBA01032545;AC006445;AMYH01014008;NG_010487 RPL32_4_459 pseudo 36600 INFERRED 2304731 RPL32P15 ribosomal protein L32 pseudogene 15 6 6 6 p21.1 42829117 42831466 - 41383674 41386021 - 41275696 41278043 - 19123937 100132265 ABBA01050760;AL672212;AMYH01016291;NG_010882 RPL32_5_690 pseudo 36119 INFERRED 2305240 RPL32P14 ribosomal protein L32 pseudogene 14 5 5 p14.3 19706125 19706457 + 19041145 19041477 + 19123937 100270994 ABBA01054560;AC106744;AMYH01014951;NG_010763 RPL32_5_546 pseudo 37038 INFERRED 2305241 RPL32P13 ribosomal protein L32 pseudogene 13 4 4 q25 110951313 110951744 + 113659831 113660262 + 19123937 100270993 ABBA01063821;AC017007;AMYH01014470;NG_010759 RPL32_4_510 pseudo 35950 INFERRED 2305727 RPL32P16 ribosomal protein L32 pseudogene 16 6 6 6 q25.1 152151134 152154908 + 151458988 151462762 + 151417295 151421069 + 19123937 646104 ABBA01025652;AL133260;AMYH01016745;NG_006650;NG_029185 1678689 RH93531 RPL32_7_768 pseudo 36086 INFERRED 2304636 RPL32P17 ribosomal protein L32 pseudogene 17 7 7 7 q36.1 142948210 142956753 + 147908426 147916969 + 148277493 148286036 + 19123937;12690205 402716 AACC02000041;ABBA01033596;AC005229;AMYH01018114;NG_010146 EAL24419 RPL32_9_862 pseudo 36251 INFERRED 2304864 RPL32P18 ribosomal protein L32 pseudogene 18 7 7 7 p13 44606445 44607583 + 44473967 44475105 + 44507442 44508580 + 19123937;11181995 644907 AACC02000110;ABBA01058218;AC004453;AMYH01017211;CH236960;CH471128;NG_010235 EAW61102 RPL32_8_807 pseudo 36301 INFERRED 2305556 RPL32P20 ribosomal protein L32 pseudogene 20 8 8 8 q24.22 130515624 130516031 + 134407422 134407829 + 134338240 134338647 + 6480464 19123937 392271 ABBA01014197;AF192304;AMYH01019038;NG_010427 RPL32_12_951 pseudo 35934 INFERRED 2303444 RPL32P2 ribosomal protein L32 pseudogene 2 15 15 q14 11180557 11181065 - 34378059 34378567 - 19123937 654388 ABBA01038545;AC079203;AMYH01006510;NG_009533 HsT20607;RPL32_9_1423 pseudo 31033 INFERRED 2305902 RPL32P21 ribosomal protein L32 pseudogene 21 9 9 9 p13.2 36980193 36980600 + 37036832 37037239 + 37046832 37047239 + 19123937 100128004 ABBA01050409;AL161781;AMYH01019352;NG_009980 RPL32_13_977 pseudo 36363 INFERRED 731558 RPL30 ribosomal protein L30 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 8 8 8 q22 95239859 95243700 - 99123118 99126949 - 99053938 99057818 - 6480464 1577483;15189156;18029348;14567916;16968546;16964243;15489334;14743216;12477932;11875025;9582194;8722009;7821789;21628590;21145461;21319273;20554519;16341674;22863883;15064750;12962325;16196087;21832049;22939629;17342744;21151833;17620599;22586326;12777385;18274552;19953087;21139048;21890473;21906983;21942715;21963094;21987572;22145905;22139155;21853274;22505724;22944692 6156 E5RI99;E5RJH3;P62888 AB070559;ABBA01037529;ABBA01037530;AK308890;AK312102;AL049968;AMYH01018915;AP003352;BC032700;BC095426;BM785413;BQ055546;CH471060;D28438;L05095;NM_000989;X79238 AAC15858;AAH32700;AAH95426;BAA05804;BAB79491;BAG35038;CAA55820;EAW91769;EAW91770;EAW91771;NP_000980;P62888 Hs.400295 1722047;1735752;2159314;2167937;2189339;5037552 D8S1364E;D8S1655;D8S1959;D8S2279;G59910;MARC_1295-1296:991931143:1 L30 60S ribosomal protein L30;OTTHUMP00000227550;OTTHUMP00000227601;OTTHUMP00000227629;OTTHUMP00000227630 APPROVED protein-coding ENSG00000156482 10333 01595 180467 REVIEWED 2305618 RPL32P19 ribosomal protein L32 pseudogene 19 8 8 8 p22 14764588 14765052 + 15844948 15845412 + 15800577 15801041 + 19123937;11181995 646433 ABBA01021596;AC018437;AMYH01018538;CH471080;NG_006954 EAW63835 1778224 G32143 RPL32_10_878 pseudo 36743 INFERRED 2304859 RPL32P22 ribosomal protein L32 pseudogene 22 9 9 9 q32 85623858 85624359 + 114164716 114165217 + 115124895 115125396 + 19123937 644996 ABBA01042705;AL359073;AMYH01021645;NG_010687 RPL32_14_1010 pseudo 36694 INFERRED 2305624 RPL32P23 ribosomal protein L32 pseudogene 23 10 10 10 p15.1 6042867 6043277 - 6153480 6159656 - 6113474 6113884 - 19123937 644020 ABBA01034769;AL157395;AMYH01002002;NG_010936 RPL32_6_1020 pseudo 36007 INFERRED 2304651 RPL32P24 ribosomal protein L32 pseudogene 24 11 11 11 q13 80233712 80234111 + 82924047 82924446 + 82924047 82924446 + 19123937 100271489 ABBA01017362;AP000873;NG_010668 RPL32_15_1162 pseudo 36722 INFERRED 2304650 RPL32P25 ribosomal protein L32 pseudogene 25 11 11 11 q21 92994762 92995167 + 95696383 95696788 + 95696383 95696788 + 19123937 100271490 ABBA01040009;AMYH01003972;AP000870;NG_010675 RPL32_16_1167 pseudo 35721 INFERRED 2304649 RPL32P26 ribosomal protein L32 pseudogene 26 12 12 12 q14.1 62721094 62721496 + 63052603 63053005 + 63052603 63053005 + 19123937 100271491 ABBA01026629;AC048341;AMYH01004538;NG_010679 RPL32_17_1245 pseudo 36027 INFERRED 2304837 RPL32P27 ribosomal protein L32 pseudogene 27 12 12 12 q13 48091572 48091970 - 49297198 49297596 - 49297198 49297596 - 19123937 100271306 ABBA01031493;AC073610;AMYH01004435;NG_011044 RPL32_7_1234 pseudo 36924 INFERRED 2305772 RPL32P28 ribosomal protein L32 pseudogene 28 13 13 13 q21.31 43862607 43863119 + 61800018 61800530 + 62902017 62902529 + 19123937 100133193 ABBA01050245;AL160151;NG_010395 RPL32_18_1316 pseudo 36328 INFERRED 2304492 RPL32P29 ribosomal protein L32 pseudogene 29 14 14 14 q21.3 29903900 29904387 - 49113394 49114262 - 50044073 50044560 - 19123937 729215 ABBA01018109;AL139099;AMYH01005711;NG_010659 RPL32_8_1362 pseudo 35771 INFERRED 2304648 RPL32P30 ribosomal protein L32 pseudogene 30 15 15 15 q21.2 27983794 27984081 + 51090867 51091154 + 51090867 51091154 + 19123937 100271492 ABBA01039101;AC012100;AMYH01006640;NG_010686 RPL32_19_1431 pseudo 36729 INFERRED 2304515 RPL32P31 ribosomal protein L32 pseudogene 31 17 17 17 q25.3 75144678 75147604 + 76130598 76133529 + 78516003 78518934 + 19123937 201259 ABBA01032115;AC109327;AMYH01008699;NG_010233;NG_013034 1783560;1785064 SHGC-154589;SHGC-154741 RPL32_21_1577 pseudo 37035 INFERRED 2304652 RPL32P32 ribosomal protein L32 pseudogene 32 17 17 17 q23.2 57423162 57423505 - 58322665 58323008 - 58322665 58323008 - 19123937 100271488 ABBA01035414;AC104763;AMYH01008527;NG_010664 RPL32_10_1563 pseudo 36024 INFERRED 2304647 RPL32P33 ribosomal protein L32 pseudogene 33 17 17 17 q24.3 67194694 67195087 + 70623370 70623763 + 70623370 70623763 + 19123937 100271493 ABBA01028886;AC080037;AMYH01008611;NG_010691 RPL32_20_1573 pseudo 36231 INFERRED 2304760 RPL32P35 ribosomal protein L32 pseudogene 35 X X X q25 128361158 128361558 - 127972419 127972819 - 127972419 127972819 - 19123937 100271393 ABBA01047727;AMYH01022960;NG_010177;Z72001 RPL32_11_1810 pseudo 36547 INFERRED 2305481 RPL32P36 ribosomal protein L32 pseudogene 36 X X X p11.4 44896257 44907433 + 40639579 40652588 + 40756469 40767643 + 19123937;11181995;21628590 392447 ABBA01046760;ABBA01046761;AC092268;AMYH01022226;CH471141;NG_011329 EAW59413;EAW59414 RPL32_24_1772 pseudo 36613 INFERRED 1344513 RPL32P4 ribosomal protein L32 pseudogene 4 8 8 8 q21.3 83249640 83250131 + 87124447 87124906 + 87055281 87055772 + 19123937 100131339 ABBA01037355;AC023194;AMYH01018855;NG_009522 RPL32L;RPL32_11_924 pseudo 10337 VALIDATED 2305774 RPL32P34 ribosomal protein L32 pseudogene 34 19 19 19 p13.3 5215258 5215661 + 5228745 5229148 + 5277745 5278148 + 19123937 100133162 ABBA01056020;AC005790;AMYH01009358;NG_010230 RPL32_22_1617 pseudo 35903 INFERRED 2305392 RPL32P6 ribosomal protein L32 pseudogene 6 1 1 p36.1 25707176 25707601 + 27310090 27310515 + 19123937 100270888 ABBA01034943;AL356390;AMYH01000415;NG_010215 RPL32_1_26 pseudo 36655 INFERRED 2305816 RPL32P7 ribosomal protein L32 pseudogene 7 3 3 3 q12.3 99710359 99710764 - 102800773 102801178 - 101318083 101318488 - 19123937 391560 ABBA01061773;AC084198;AMYH01013360;NG_010710 RPL32_1_390 pseudo 35804 INFERRED 2305243 RPL32P8 ribosomal protein L32 pseudogene 8 3 3 q25 147562712 147563109 - 149150830 149151227 - 19123937 100270991 ABBA01058945;AC108751;AMYH01013570;NG_010745 RPL32_2_419 pseudo 36414 INFERRED 2305242 RPL32P9 ribosomal protein L32 pseudogene 9 3 3 q25.1 148281657 148282066 + 149868325 149868734 + 19123937 100270992 ABBA01058931;AC117386;AMYH01013574;NG_010752 RPL32_3_420 pseudo 35481 INFERRED 1345939 RPL3 ribosomal protein L3 Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 22 22 q13 38038833 38045616 - 39708887 39715670 - 1580863;6480464 2891103;17220478;17353931;15189156;14567916;16364039;15635413;15592455;15489334;15461802;14702039;12962325;12477932;11790298;11401437;10684968;10591208;9582194;8921388;8722009;8076819;7576925;1538749;21110914;17267499;21145461;21319273;18029348;20100605;22939629;19394292;21182205;22863883;19738201;20085233;21988832;22751105;23000965;23084401;23246001;23255119;23349634;23398456;23455922;16963496;21139332;12777385;21081666;21705779;16196087;21252943;18781797;19596686;21139048;21890473;21906983;21963094;21987572;22178446;17620599;22318606;22586326;18729074;22174317;22505724;22797925;22944692;22952844 6122 B3KS36;B5MCW2;F8WCR1;G5E9G0;H7C3M2;H7C422;P39023;Q96QL0 AB007166;AB062291;AB266619;ABBA01055560;AJ238852;AK092695;AK297711;AK315693;AL022326;AL832757;AMYH01012776;AY320405;BC002408;BC004323;BC006483;BC008003;BC008492;BC012146;BC012786;BC013674;BC013861;BC014017;BC015032;BC015767;BC022790;BC033296;BC036582;BC063662;BC071666;BC088373;BC107711;BC127794;BU584440;CH471095;CR456566;L22453;M90054;NM_000967;NM_001033853;X73460 AAA60291;AAA91344;AAH02408;AAH04323;AAH06483;AAH08003;AAH08492;AAH12146;AAH12786;AAH13674;AAH14017;AAH15032;AAH15767;AAH22790;AAH36582;AAH63662;AAH88373;AAI07712;AAP73807;BAA25828;BAB93474;BAG38056;BAG52598;BAG60068;BAM21009;CAA51839;CAB76201;CAG30452;CAK54597;CAK54896;EAW60310;EAW60311;EAW60312;EAW60313;EAW60314;EAW60315;EAW60316;EAW60317;EAW60318;EAW60319;EAW60320;NP_000958;NP_001029025;P39023 Hs.119598 1686364;1747521;1747523;1747525;2158857;2158884;2191741;5013990;5014810;5015619;5022068;5037552;5122581 D11S3114;D14S1219;D17S1982;D17S891E;D22S1257;D8S2279;G65385;G65386;G65387;MARC_6327-6328:996689678:1;RH66576;RP_L3_1;SGC33142 ASC-1;L3;MGC104284;TARBP-B 60S ribosomal protein L3;HIV-1 TAR RNA-binding protein B;OTTHUMP00000199074;OTTHUMP00000199075;OTTHUMP00000199076;hypothetical protein;ribosomal protein L3, isoform a APPROVED protein-coding ENSG00000100316 10332 16042 604163 REVIEWED 1349591 RPL34P1 ribosomal protein L34 pseudogene 1 1 1 1 q23-q24 141288835 141289246 + 166446378 166446931 + 168179810 168180221 + 19123937 26514 ABBA01047232;AL021397;AMYH01001486;NG_000895 RPL34_3_118;dJ69E11.2 pseudo ENSG00000237049 10341 INFERRED 1345579 RPL32P5 ribosomal protein L32 pseudogene 5 22 22 22 q11.1 1295032 1295542 + 16053726 16054298 + 17673738 17674248 + 19123937;10591208 23754 ABBA01001456;AC005300;AMYH01012431;NG_002456 RPL32L2;RPL32_23_1737 pseudo 10338 INFERRED 2305209 RPL34P10 ribosomal protein L34 pseudogene 10 3 3 q27.2 183762102 183762401 + 185324363 185324662 + 19123937 100271004 ABBA01058414;AC133473;AMYH01013728;NG_010819 RPL34_8_445 pseudo 36962 INFERRED 2304382 RPL34P11 ribosomal protein L34 pseudogene 11 3 3 3 p24.1 28425896 28426248 + 28464220 28464572 + 28489216 28489568 + 19123937 100130286 ABBA01024976;AC093142;AMYH01013050;NG_011235 RPL34_6_354 pseudo 36412 INFERRED 2305238 RPL34P12 ribosomal protein L34 pseudogene 12 4 4 q26 121119780 121120115 - 123736937 123737272 - 19123937 100270996 ABBA01044742;AC021205;AMYH01014494;NG_010777 RPL34_2_514 pseudo 35845 INFERRED 2305237 RPL34P13 ribosomal protein L34 pseudogene 13 5 5 q23 130268162 130268517 - 134140467 134140822 - 19123937 100270997 ABBA01068741;AC010301;AMYH01015626;NG_010783 RPL34_3_616 pseudo 36398 INFERRED 2304618 RPL34P14 ribosomal protein L34 pseudogene 14 6 6 6 p21.1 44847327 44847951 + 43403568 43404192 + 43295590 43296214 + 19123937 100129934 ABBA01050687;AL583834;AMYH01016312;NG_010743 RPL34_9_693 pseudo 35927 INFERRED 2305213 RPL34P15 ribosomal protein L34 pseudogene 15 6 6 q26 164108159 164108458 - 163378281 163378580 - 19123937 100271000 ABBA01015119;AL590286;AMYH01016834;NG_010799 RPL34_5_775 pseudo 35965 INFERRED 2305743 RPL34P16 ribosomal protein L34 pseudogene 16 6 6 6 p25.1 7015674 7016096 - 5733578 5733931 - 5788543 5788965 - 19123937 100133294 ABBA01022010;AL136968;AMYH01016054;NG_009837 RPL34_4_651 pseudo 37033 INFERRED 2305212 RPL34P17 ribosomal protein L34 pseudogene 17 8 8 q11.23 49216049 49216390 - 53225713 53226054 - 19123937 100271001 ABBA01041698;AC103831;AMYH01018715;NG_010806 RPL34_6_902 pseudo 36636 INFERRED 2305210 RPL34P18 ribosomal protein L34 pseudogene 18 8 8 q22.1 91155626 91155979 - 94969566 94969919 - 19123937 100271003 ABBA01037444;AC105081;AMYH01018884;NG_010815 RPL34_7_926 pseudo 35968 INFERRED 2304646 RPL34P19 ribosomal protein L34 pseudogene 19 10 10 10 p11.22 32038091 32038391 + 32273183 32273483 + 32273183 32273483 + 19123937 100271494 ABBA01033394;AL161932;AMYH01002223;NG_010697 RPL34_10_1028 pseudo 36925 INFERRED 1352830 RPL34P2 ribosomal protein L34 pseudogene 2 11 11 11 p13 32926610 32926962 - 32736290 32736842 - 32779813 32780165 - 19123937 26513 ABBA01060907;AL049714;AMYH01003479;NG_000894 RPL34_11_1133 pseudo 10342 INFERRED 2304836 RPL34P20 ribosomal protein L34 pseudogene 20 10 10 10 q24 92891114 92891462 - 99152955 99153303 - 99152955 99153303 - 19123937 100271308 ABBA01021805;AL355490;AMYH01002976;NG_011055 RPL34_8_1088 pseudo 35535 INFERRED 2304645 RPL34P21 ribosomal protein L34 pseudogene 21 11 11 11 q24 127120655 127120941 - 129952390 129952676 - 129952390 129952676 - 19123937 100271495 ABBA01023029;AMYH01004127;AP003041;NG_010705;NG_029770 RPL34_10_1189 pseudo 35677 INFERRED 2304644 RPL34P22 ribosomal protein L34 pseudogene 22 11 11 11 p11.2 44798046 44798363 + 44650907 44651224 + 44650907 44651224 + 19123937 100271498 ABBA01060770;AC104010;AMYH01003523;NG_010718 RPL34_12_1141 pseudo 36454 INFERRED 2304643 RPL34P23 ribosomal protein L34 pseudogene 23 11 11 11 q24.1 120065921 120066266 + 122906577 122906922 + 122906577 122906922 + 19123937 100271499 ABBA01031277;AMYH01004098;AP000926;NG_010725 RPL34_13_1184 pseudo 35820 INFERRED 2304835 RPL34P24 ribosomal protein L34 pseudogene 24 11 11 11 p15.5-p14 17288873 17289162 - 17159523 17159812 - 17159523 17159812 - 19123937 100271309 ABBA01061068;AC126389;AMYH01003413;NG_011059 RPL34_9_1123 pseudo 36823 INFERRED 2305783 RPL34P26 ribosomal protein L34 pseudogene 26 13 13 13 q14.3 31990153 31990506 - 49833547 49833900 - 50935546 50935899 - 19123937 100130718 ABBA01051038;AL138696;AMYH01005114;NG_010834 RPL34_12_1312 pseudo 36100 INFERRED 2305613 RPL34P27 ribosomal protein L34 pseudogene 27 13 13 q12.12 6626236 6626659 - 25562671 25563094 - 19123937 651249 ABBA01007897;AL354798;AMYH01004978;NG_011246 RPL34_11_1303 pseudo 36369 INFERRED 2304601 RPL34P25 ribosomal protein L34 pseudogene 25 12 12 12 p12 24815930 24816271 + 19661838 19662179 + 19661838 19662179 + 19123937 100271501 ABBA01067945;AC091805;AMYH01004313;NG_010736 RPL34_14_1217 pseudo 35895 INFERRED 2304602 RPL34P28 ribosomal protein L34 pseudogene 28 14 14 14 q22 35798499 35798846 - 55749014 55749361 - 55749014 55749361 - 19123937 100271500 ABBA01018205;AL158801;AMYH01005745;NG_010730 RPL34_13_1367 pseudo 36781 INFERRED 1343494 RPL34P3 ribosomal protein L34 pseudogene 3 21 21 21 q22.12 22043754 22044133 - 35766144 35766723 - 36844374 36844753 - 10830953 54026 ABBA01057371;AF051934;AMYH01012220;NG_000907;NG_011402 2117823 SHGC-9575 pseudo 10343 INFERRED 2304599 RPL34P29 ribosomal protein L34 pseudogene 29 16 16 16 q12.1 34482026 34482347 + 49968937 49969258 + 49968937 49969258 + 19123937 100271503 ABBA01000885;AC007603;AMYH01007657;NG_010747 RPL34_15_1483 pseudo 35631 INFERRED 2304357 RPL34P31 ribosomal protein L34 pseudogene 31 17 17 17 q11.1 22462565 22462981 + 22625260 22625675 + 25601133 25601548 + 19123937 729536 ABBA01015073;AC026254;AMYH01008274;NG_010995 RPL34_16_1528 pseudo 36899 INFERRED 2304600 RPL34P32 ribosomal protein L34 pseudogene 32 18 18 18 q11.2 16240655 16240997 - 19434606 19434948 - 19434606 19434948 - 19123937 100271502 ABBA01022670;AC103987;AMYH01008876;NG_010742;NG_033272 RPL34_14_1586 pseudo 36902 INFERRED 2305755 RPL34P33 ribosomal protein L34 pseudogene 33 19 19 19 p12 22715576 22715915 + 22673994 22684018 + 22882154 22882493 + 19123937 730061 ABBA01051415;AC024563;AMYH01009645;NG_011383 RPL34_18_1640 pseudo 36666 INFERRED 2304597 RPL34P30 ribosomal protein L34 pseudogene 30 17 17 17 q21 37521777 37522117 + 40866317 40866657 + 40866317 40866657 + 19123937 100271505 ABBA01006414;AC100793;AMYH01008398;NG_010760 RPL34_17_1547 pseudo 36477 INFERRED 2304421 RPL34P34 ribosomal protein L34 pseudogene 34 19 19 19 p12 22383915 22384425 - 22343226 22343736 - 22551386 22551896 - 19123937 342994 ABBA01051405;AC011494;AMYH01009642;CH471106;NG_011088 EAW84920 RPL34_15_1639 pseudo 35848 INFERRED 2304598 RPL34P35 ribosomal protein L34 pseudogene 35 22 22 22 q11.21 3078082 3078378 - 19225966 19226262 - 19225966 19226262 - 19123937 100271504 ABBA01005421;AC000081;AMYH01012477;NG_010754 RPL34_16_1738 pseudo 35798 INFERRED 2305239 RPL34P5 ribosomal protein L34 pseudogene 5 1 1 q21 127039852 127040183 + 153968108 153968439 + 19123937 100270995 ABBA01049462;AL358472;AMYH01001409;NG_010769 RPL34_2_101 pseudo 36527 INFERRED 2305236 RPL34P6 ribosomal protein L34 pseudogene 6 1 1 q32.1 173957007 173957342 + 200832936 200833271 + 19123937 100270998 ABBA01027542;AC099756;AMYH01001638;NG_010790 RPL34_4_146 pseudo ENSG00000231333 35810 INFERRED 734080 RPL31 ribosomal protein L31 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 95822605 95840060 + 100985123 101002587 + 101618691 101636155 + 6480464 2780320;17353931;15189156;14567916;17081983;16344560;16189514;15815621;15592455;15489334;15146197;12962325;12477932;11875025;11790298;9582194;8889548;8722009;7821789;2597680;11746496;21145461;21319273;21832049;22939629;23184937;16196087;21151833;12777385;18274552;18457437;21078624;21139048;21693764;21890473;21906983;19471022;17620599;22354994;21628590 6160 B7Z4C8;B7Z4E3;B8ZZK4;C9JU56;H7C2W9;P62899 AB007180;AB061830;ABBA01073920;AC016738;AK297483;AK311775;AMYH01010812;BC001663;BC017343;BC070210;BC070373;BE564858;BG031488;BG223187;CD108396;CD247800;CF124259;CH471127;CN269912;CN269915;D28386;DA869102;NM_000993;NM_001098577;NM_001099693;X15940;X69181 AAH17343;AAH70210;AAH70373;AAY14823;ABM83535;ABM86775;BAA05752;BAA25839;BAB79468;BAG34718;BAH12588;CAA34066;CAA48925;EAX01826;EAX01827;EAX01828;EAX01829;NP_000984;NP_001092047;NP_001093163;P62899 Hs.469473 1662273;1694594;1703190;1734880;1744347;1778031;1848335;2106699;2135394;2145067;2150963;2170665;5020883;5127449 A005M35;D2S1646E;D2S2662;G43290;GDB:451770;HSC1GA012;RH12325;RH70503;RP_L31_1;SGC30319;SGC32211;TBC1D8__5222;WI-18129;WIAF-2217 L31;MGC88191 60S ribosomal protein L31;OTTHUMP00000161274;OTTHUMP00000202930;OTTHUMP00000202933;OTTHUMP00000202939;OTTHUMP00000202940;OTTHUMP00000202941;OTTHUMP00000202942;OTTHUMP00000202943 APPROVED protein-coding ENSG00000071082 10334 17994 REVIEWED 2304352 RPL34P7 ribosomal protein L34 pseudogene 7 1 1 1 q42.12 199567236 199567589 - 224443192 224443545 - 226376569 226376922 - 19123937 100127995 ABBA01009645;AL592045;AMYH01001778;NG_011301;NG_028985 RPL34_1_168 pseudo 35575 INFERRED 2305235 RPL34P8 ribosomal protein L34 pseudogene 8 2 2 q12.1 87230213 87230530 - 112432603 112432920 + 19123937 100270999 ABBA01040261;AC093166;AMYH01010944;NG_010794 RPL34_5_265 pseudo 36963 INFERRED 2305391 RPL34P4 ribosomal protein L34 pseudogene 4 1 1 p36 25049493 25049845 + 26653178 26653530 + 19123937 100270889 ABBA01034905;AL451139;AMYH01000397;NG_010221 RPL34_1_24 pseudo 36665 INFERRED 2305211 RPL34P9 ribosomal protein L34 pseudogene 9 3 3 q13.33 118641130 118641465 + 120231701 120232036 + 19123937 100271002 ABBA01061564;AC126182;AMYH01013421;NG_010812 RPL34_7_396 pseudo 36771 INFERRED 1349107 RPL35AP ribosomal protein L35a pseudogene 20 20 20 q12-q13.1 42820622 42821418 - 45540265 45541261 - 46106958 46107754 - 19123937 140716 ABBA01052703;AL353777;AMYH01011946;NG_000987 RPL35A_15_1710;bA456N23.1 pseudo 16546 INFERRED 2304831 RPL35AP10 ribosomal protein L35a pseudogene 10 3 3 3 q26.1 158481842 158482170 + 160060475 160060803 + 160060475 160060803 + 19123937 100271313 ABBA01058796;AC079594;AMYH01013614;NG_011082;NG_022932 RPL35A_3_429 pseudo 35905 INFERRED 2304830 RPL35AP11 ribosomal protein L35a pseudogene 11 4 4 4 q22 92588173 92588604 + 95290922 95291351 + 95290922 95291351 + 19123937 100271314 ABBA01063620;AC109925;AMYH01014403;NG_011086 RPL35A_4_500 pseudo 35708 INFERRED 2304828 RPL35AP12 ribosomal protein L35a pseudogene 12 4 4 4 q32.2 161635597 161635934 + 164303331 164303668 + 164303331 164303668 + 19123937 100271316 ABBA01070271;AC115113;AMYH01014665;NG_011094 RPL35A_5_531 pseudo 36068 INFERRED 1604531 RPL32P3 ribosomal protein L32 pseudogene 3 3 3 3 q21.3 127528019 127545122 - 130584367 130600972 - 129101677 129118282 - 6480464 14702039;12477932;16344560 132241 ABBA01059231;ABBA01059232;AI872203;AK093477;AK096589;AL449212;AMYH01013476;BC014110;BC015389;BC042157;BC053996;BX641154;CH471052;CS300717;DA215278;DA215350;NR_003111 CAK32381;EAW79258;EAW79260 Hs.477537;Hs.652423 1738893;1846592;2130636;2185311;2191469;5014604;5016679 D3S2988;D3S3173;D3S4252;MARC_23652-23653:1029502677:1;RH70808;RH77984;SHGC-77332 pseudo ENSG00000251474 27024 VALIDATED 2305095 RPL35AP13 ribosomal protein L35a pseudogene 13 5 5 5 q13.2 68070049 68070442 - 72210311 72211062 - 72174651 72175044 - 19123937 100131945 ABBA01061908;AC008953;AMYH01015402;NG_010547 RPL35A_5_575 pseudo 35916 INFERRED 2304829 RPL35AP14 ribosomal protein L35a pseudogene 14 5 5 5 q12.1 58868736 58869032 - 61871802 61872098 - 61871802 61872098 - 19123937 100271315 ABBA01048360;AC114982;AMYH01015119;NG_011091 RPL35A_4_569 pseudo 36783 INFERRED 2304827 RPL35AP15 ribosomal protein L35a pseudogene 15 5 5 5 q23.1 112586080 112586415 - 116636803 116637138 - 116636803 116637138 - 19123937 100271317 ABBA01069009;AC093295;AMYH01015567;NG_011098 RPL35A_6_605 pseudo 36974 INFERRED 2304826 RPL35AP16 ribosomal protein L35a pseudogene 16 5 5 5 q32 141597641 141597888 + 145517697 145517944 + 145517697 145517944 + 19123937 100271318 ABBA01026345;AC091959;AMYH01015682;NG_011105 RPL35A_6_624 pseudo 35485 INFERRED 2303831 RPL34-AS1 RPL34 antisense RNA 1 (head to head) 4 4 4 q25 106754205 106836604 - 109681329 109761520 - 109459346 109541613 - 14702039;12477932 285456 Q8N9D8 ABBA01063761;ABBA01063762;ABBA01063763;ABBA01063764;ABBA01063765;AC084209;AK094992;AK298931;AMYH01014454;BC118631;NR_026968 BAC04469;BAG61034 Hs.683863 1763063;1767866;1769062;1777866;1854548;1856589;2156082;2181280;2183577 SHGC-146801;SHGC-18787;SHGC-18814;SHGC-23133;SHGC-2737;SHGC-50690;SHGC-59280;SHGC-60121;SHGC-9318 FLJ37673 APPROVED miscrna ENSG00000234492 26749 08228 VALIDATED 2304824 RPL35AP18 ribosomal protein L35a pseudogene 18 6 6 6 q14 81091913 81092220 + 80673932 80674239 + 80673932 80674239 + 19123937 100271321 ABBA01040419;AL133475;AMYH01016459;NG_011120 RPL35A_8_717 pseudo 36812 INFERRED 2304823 RPL35AP19 ribosomal protein L35a pseudogene 19 8 8 8 q24.12 118580324 118580770 - 122392333 122392779 - 122392333 122392779 - 19123937 100271322 ABBA01037846;AC013545;AMYH01018998;NG_011123 RPL35A_8_947 pseudo 36631 INFERRED 2304825 RPL35AP17 ribosomal protein L35a pseudogene 17 5 5 5 q32 141598268 141598515 + 145518324 145518571 + 145518324 145518571 + 19123937 100271319 ABBA01026345;AC091959;AMYH01015682;NG_011112 RPL35A_7_625 pseudo 36384 INFERRED 1606049 RPL35AP2 ribosomal protein L35a pseudogene 2 9 9 9 p 34123368 34123741 + 34181576 34181833 + 34191517 34191890 + 19123937 652983 ABBA01065017;AL353662;AMYH01019334;NG_005490 RPL35A_10_973;bA571F15.2 pseudo 19914 INFERRED 2305832 RPL35AP20 ribosomal protein L35a pseudogene 20 9 9 9 p24.1 6612558 6613006 + 6665284 6665614 + 6675215 6675662 + 19123937 100128277 ABBA01065389;AL354707;AMYH01019209;NG_010099 RPL35A_9_959 pseudo 36053 INFERRED 2304596 RPL35AP21 ribosomal protein L35a pseudogene 21 9 9 9 q21.13 44776731 44777168 + 74204456 74204893 + 74204456 74204893 + 19123937 100271506 ABBA01033836;AL392106;AMYH01021398;NG_010765 RPL35A_11_983 pseudo 36814 INFERRED 2304595 RPL35AP22 ribosomal protein L35a pseudogene 22 9 9 9 q33.1 91095260 91095587 - 120447536 120447863 - 120447536 120447863 - 19123937 100271507 ABBA01016273;AL161630;AMYH01021681;NG_010771 1724573 RH121283 RPL35A_9_1011 pseudo 35932 INFERRED 2304447 RPL35AP24 ribosomal protein L35a pseudogene 24 10 10 q11.23 51117591 51118033 + 51117591 51118033 + 19123937 100271631 AL731572;NG_010055 RPL35A_12_1042 pseudo 35544 INFERRED 2304449 RPL35AP23 ribosomal protein L35a pseudogene 23 10 10 q11.2 51654908 51655375 - 51654908 51655375 - 19123937 100271629 AL450342;AMYH01002643;NG_010037 RPL35A_10_1045 pseudo 36045 INFERRED 2304445 RPL35AP25 ribosomal protein L35a pseudogene 25 10 10 q11.23 51339370 51339837 + 51339370 51339837 + 19123937 100271633 AL672187;NG_010067 RPL35A_13_1043 pseudo 36294 INFERRED 2304448 RPL35AP26 ribosomal protein L35a pseudogene 26 11 11 11 q24.2 123313290 123313706 - 126148097 126148513 - 126148097 126148513 - 19123937 100271630 ABBA01031225;AMYH01004111;AP001318;NG_010048;NG_028029 1677708;2117948 RH79036;RH80716 RPL35A_11_1187 pseudo 36465 INFERRED 2304443 RPL35AP27 ribosomal protein L35a pseudogene 27 12 12 12 p11 12836344 12836784 + 33015965 33016405 + 33015965 33016405 + 19123937 100271635 ABBA01031702;AC087588;AMYH01004375;NG_010083 RPL35A_14_1227 pseudo 35979 INFERRED 2304441 RPL35AP28 ribosomal protein L35a pseudogene 28 12 12 12 q13 49052943 49053378 + 50256889 50257324 + 50256889 50257324 + 19123937 100271637 ABBA01031540;AC131157;AMYH01004448;NG_010097 RPL35A_15_1235 pseudo 36480 INFERRED 2304440 RPL35AP29 ribosomal protein L35a pseudogene 29 12 12 12 q13 50301833 50302155 + 51500605 51500927 + 51500605 51500927 + 19123937 100271638 ABBA01031599;AC087884;AMYH01004462;NG_010103;NG_029908 RPL35A_16_1237 pseudo 35569 INFERRED 2304439 RPL35AP30 ribosomal protein L35a pseudogene 30 12 12 12 q24.23 120030344 120030677 + 120397228 120397561 + 120397228 120397561 + 19123937 100271639 ABBA01020089;AC004815;AMYH01004794;NG_010110 RPL35A_17_1286 pseudo 36751 INFERRED 1343108 RPL35AP3 ribosomal protein L35a pseudogene 3 6 6 q23.3 138035531 138035860 - 137295067 137295396 - 19123937 387074 ABBA01025822;AL365223;AMYH01016700;NG_009761 RPL35A_7_760;bA55K22.4 pseudo 21117 VALIDATED 2304438 RPL35AP31 ribosomal protein L35a pseudogene 31 13 13 13 q22 53322033 53322465 + 72420052 72420484 + 72420052 72420484 + 19123937 100271640 ABBA01050327;AL139186;AMYH01005197;NG_010117;NG_011849 RPL35A_18_1321 pseudo 36284 INFERRED 2304444 RPL35AP33 ribosomal protein L35a pseudogene 33 16 16 16 q22.1 53019638 53020105 - 68511095 68511562 - 68511095 68511562 - 19123937 100271634 ABBA01025486;AC099521;AMYH01007756;NG_010077 RPL35A_13_1491 pseudo 36950 INFERRED 2304446 RPL35AP32 ribosomal protein L35a pseudogene 32 15 15 15 q22 43628470 43628859 - 66738789 66739178 - 66738789 66739178 - 19123937 100271632 ABBA01038820;AC011276;AMYH01006722;NG_010061 RPL35A_12_1446 pseudo 36269 INFERRED 2304437 RPL35AP34 ribosomal protein L35a pseudogene 34 16 16 16 p13.12 13149873 13150277 + 12974993 12975397 + 12974993 12975397 + 19123937 100271641 ABBA01006858;AC092324;AMYH01007169;NG_010123 RPL35A_19_1474 pseudo 36324 INFERRED 2304442 RPL35AP35 ribosomal protein L35a pseudogene 35 17 17 17 q11.2 24527915 24528347 - 27667456 27667888 - 27667456 27667888 - 19123937 100271636 ABBA01015026;AC005412;AMYH01008288;NG_010088 2121213 D17S2093 RPL35A_14_1534 pseudo 36677 INFERRED 1347014 RPL32 ribosomal protein L32 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] 3 3 3 p25-p24 12814735 12821372 - 12851444 12858081 - 12876444 12883081 - 6480464 17353931;15189156;14567916;17054774;15498874;15489334;12962325;12477932;11875025;10737800;9582194;9284913;8889548;8722009;8012384;7821789;3866218;21145461;21319273;22939629;16196087;21139048;21890473;21628590;21907836;22174317;22797925 6161 D3YTB1;D3YTI8;F8W727;P62910 AB061831;ABBA01025188;AC034198;AK124029;AK311909;AMYH01012988;BC011514;BC070209;BF960792;BQ068496;CA436299;CF124158;CH471055;D28385;NM_000994;NM_001007073;NM_001007074;X03342;Z56502 AAH11514;AAH70209;ABM82499;ABM85693;BAA05751;BAB79469;BAG34850;CAA27048;EAW64144;EAW64145;NP_000985;NP_001007074;NP_001007075;P62910 Hs.265174 1671993;1678689;1680296;1744101;1855525;2136842;2185840;2191469;5016679;5093016 A009E16;G32471;GDB:388554;MARC_23652-23653:1029502677:1;RH70808;RH93304;RH93531;SHGC-32188;SHGC-76713;WI-21041 L32;PP9932 60S ribosomal protein L32;OTTHUMP00000160235;OTTHUMP00000207904;OTTHUMP00000207905;OTTHUMP00000207906;OTTHUMP00000207907 APPROVED protein-coding ENSG00000144713 10336 17995 REVIEWED 2303692 RPL35AP4 ribosomal protein L35a pseudogene 4 6 6 p21 34911523 34911646 - 33357133 33357256 - 100048922 ABBA01038147;AL662799;AMYH01016245;BX088650;BX248088;CR759793;NG_009762 BPG294E21.7 pseudo 33460 VALIDATED 2305784 RPL35AP36 ribosomal protein L35a pseudogene 36 22 22 22 q13.31 28264445 28264871 + 42684240 42684561 + 44352846 44353272 + 19123937 100128393 ABBA01014588;AL035398;AMYH01012832;NG_010715;NG_029057 RPL35A_20_1756 pseudo 36103 INFERRED 2305607 RPL35AP37 ribosomal protein L35a pseudogene 37 X X X p22.2 19250468 19250799 - 15045480 15045811 - 15135559 15135890 - 19123937 100128807 ABBA01071266;AC112498;AMYH01022104;NG_010212 RPL35A_16_1766 pseudo 36426 INFERRED 2304846 RPL35AP5 ribosomal protein L35a pseudogene 5 1 1 1 q32.1 176939315 176939758 - 202071331 202071663 - 203804668 203805111 - 19123937 100132122 ABBA01027467;AC114402;AMYH01001658;NG_010132 RPL35A_2_150 pseudo 35570 INFERRED 2304832 RPL35AP6 ribosomal protein L35a pseudogene 6 1 1 1 q44 220211190 220211511 - 246918813 246919134 - 246918813 246919134 - 19123937 100271312 ABBA01031768;AL591848;AMYH01001905;NG_011079 RPL35A_3_191 pseudo 36793 INFERRED 2305566 RPL35AP7 ribosomal protein L35a pseudogene 7 1 1 1 q23.3 137995714 137996130 - 163157178 163157490 - 164890513 164890929 - 19123937 100128984 ABBA01047285;AL390119;AMYH01001469;NG_011118 RPL35A_1_109 pseudo 36212 INFERRED 2304834 RPL35AP8 ribosomal protein L35a pseudogene 8 3 3 3 p21 42451535 42451777 + 42511132 42511374 + 42511132 42511374 + 19123937 100271310 ABBA01024769;AC092047;AMYH01013112;NG_011066 RPL35A_1_367 pseudo 36976 INFERRED 2304833 RPL35AP9 ribosomal protein L35a pseudogene 9 3 3 3 q25.32 156903911 156904350 + 158481155 158481594 + 158481155 158481594 + 19123937 100271311 ABBA01058812;AC080013;AMYH01013609;NG_011072 RPL35A_2_427 pseudo 35643 INFERRED 2305117 RPL35P1 ribosomal protein L35 pseudogene 1 1 1 1 q43 210393925 210394359 + 235176510 235211675 + 237144609 237145043 + 19123937 440737 ABBA01033177;AL359259;AMYH01001860;NG_010846 RPL35_1_181 pseudo 36695 INFERRED 2305609 RPL35P3 ribosomal protein L35 pseudogene 3 6 6 6 q21 106372429 106372868 - 105856785 105857391 - 105750295 105750734 - 19123937 728010 ABBA01014392;AL133406;AMYH01016559;NG_011046;NG_011472 RPL35_2_728 pseudo 35488 INFERRED 2305508 RPL35P2 ribosomal protein L35 pseudogene 2 6 6 6 p21.31 35785412 35785865 - 34339013 34339764 - 34231047 34231500 - 19123937 646766 ABBA01038182;AL354740;AMYH01016255;NG_009694 1662048;1666916;1721473;1740023;1852651;2162020;2164019 D17S1779;D6S1112E;D6S1200E.1;G59590;RH44830;STS-H99646;WI-15639 RPL35_1_683 pseudo 35789 INFERRED 2305208 RPL35P4 ribosomal protein L35 pseudogene 4 7 7 7 p15.2 27297891 27298329 - 27308934 27309372 - 27308934 27309372 - 19123937 100271006 AACC02000007;ABBA01056765;AC004996;AMYH01017133;CH236948;NG_010829 1830744;2059770;2059772;2059774;2059776;2059778;2059780;2059782;2059784;2059786;2059788;2059790 ECD16508;REN101060;REN101061;REN101062;REN101063;REN101064;REN101065;REN101066;REN101067;REN101068;REN101069;REN101070 RPL35_3_799 pseudo 36285 INFERRED 2305207 RPL35P6 ribosomal protein L35 pseudogene 6 8 8 p22 17596611 17597030 - 18632057 18632476 - 19123937 100271007 ABBA01021570;AC090420;AMYH01018552;NG_010835 RPL35_5_881 pseudo 35520 INFERRED 6481562 RPL35P9 ribosomal protein L35 pseudogene 9 13 107078105 107078472 + 100873796 ABBA01027049;AL136159;AMYH01005356;NG_032288 pseudo 39402 INFERRED 2305760 RPL35P8 ribosomal protein L35 pseudogene 8 22 22 22 q13.33 33529700 33530153 - 47995787 47997485 - 49609748 49610201 - 19123937 643653 ABBA01031348;AMYH01012883;NG_010367;Z82202 RPL35_6_1759 pseudo 36158 INFERRED 2305633 RPL35P7 ribosomal protein L35 pseudogene 7 13 13 13 q33.3 87929982 87938559 + 105876122 105892265 + 107085687 107094264 + 19123937 341604 ABBA01027049;AL136159;AL138689;AMYH01005356;NG_010519 RPL35_2_1335 pseudo 35740 INFERRED 2304504 RPL35P5 ribosomal protein L35 pseudogene 5 7 7 7 q11.21 66043965 66044419 + 65709125 65709556 - 66071690 66072144 - 19123937;12690205;11181995;17353931 441246 AACC02000112;ABBA01048983;AC006001;AMYH01017491;CH236961;CH471140;NG_009598 EAL23736;EAX07921 RPL35_4_812 pseudo 36955 INFERRED 7243252 RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2011] 16344560;20967262;23000965 100529097 ABBA01044978;ABBA01044979;AL035422;AMYH01022725;DA530036;DA998453;NM_001199973;NM_001199974 NP_001186902;NP_001186903 Hs.432485 1647027 STS-AA037456 RPL36A-HNRNPH2 protein protein-coding 48349 REVIEWED 2303327 RPL36AP1 ribosomal protein L36a pseudogene 1 14 14 14 q22.3 37199584 37199984 - 56219892 56220212 - 57150095 57150495 - 19123937 100131379 ABBA01018231;AL161757;AMYH01005751;NG_009389 RPL36A_19_1371 pseudo 23548 INFERRED 2305052 RPL36AP10 ribosomal protein L36a pseudogene 10 1 1 p22.2 87289354 87289760 + 89043528 89043934 + 19123937 100271140 ABBA01045596;AC093578;AMYH01000776;NG_010190 RPL36A_1_70 pseudo 36175 INFERRED 2305496 RPL36AP11 ribosomal protein L36a pseudogene 11 1 1 1 p22.1 91910415 91910811 - 93428885 93429724 - 93656247 93656643 - 19123937 100129180 ABBA01045526;AC126124;AMYH01000801;NG_010823 RPL36A_2_73 pseudo 36385 INFERRED 2304481 RPL36AP12 ribosomal protein L36a pseudogene 12 1 1 1 p21.2 99378581 99379013 + 100890091 100890411 + 101117441 101117873 + 19123937 100130034 ABBA01045437;AC099670;AMYH01000826;NG_011254 RPL36A_2_79 pseudo 35897 INFERRED 2304822 RPL36AP13 ribosomal protein L36a pseudogene 13 2 2 2 pter-p25.1 24397605 24397876 + 24557381 24557652 + 24557381 24557652 + 19123937 100271323 ABBA01045109;AC009228;AMYH01010165;NG_011127;NG_029516 RPL36A_3_200 pseudo 35877 INFERRED 2304821 RPL36AP14 ribosomal protein L36a pseudogene 14 2 2 2 p21-p16 46322732 46323047 - 46483999 46484314 - 46483999 46484314 - 19123937 100271324 ABBA01075135;AC016696;AMYH01010313;NG_011136 RPL36A_3_214 pseudo 36788 INFERRED 2304820 RPL36AP15 ribosomal protein L36a pseudogene 15 2 2 2 p16 47864404 47864790 - 48024893 48025279 - 48024893 48025279 - 19123937 100271325 ABBA01075176;AC006509;AMYH01010329;NG_011142 RPL36A_4_216 pseudo 36648 INFERRED 2304818 RPL36AP16 ribosomal protein L36a pseudogene 16 2 2 2 p14 69672926 69673323 - 69821821 69822218 - 69821821 69822218 - 19123937 100271327 ABBA01075507;AC092431;AMYH01010421;NG_011153 RPL36A_5_238 pseudo 36416 INFERRED 2304819 RPL36AP17 ribosomal protein L36a pseudogene 17 3 3 3 p22.3 35855258 35855616 + 35913350 35913708 + 35913350 35913708 + 19123937 100271326 ABBA01024877;AC104308;AMYH01013082;NG_011148 RPL36A_4_361 pseudo 35750 INFERRED 1319729 RPL34 ribosomal protein L34 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Transcript variants derived from alternative splicing, alternative transcription initiation sites, and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 4 4 4 q25 106836713 106846631 + 109761171 109771089 + 109541722 109551640 + 1580863;6480464 7490091;17353931;15189156;14567916;15635413;15489334;14702039;12962325;12477932;11875025;9582194;8889548;8722009;7821789;21145461;21319273;20332099;20877624;21832049;10049762;17361185;21628590;18457437;21139048;21890473;21906983;21907836;22505724 6164 P49207;Q5MK14 AB007181;AB061832;ABBA01063765;AC084209;AC107071;AF147334;AK055920;AMYH01014454;AY762981;BC001773;BC070208;BC106009;BM971961;BU588998;CH471057;CR542232;CR542242;CS185554;D28420;L38941;NM_000995;NM_033625 AAC41916;AAH01773;AAH70208;AAI06010;AAV88043;ABM83428;ABM86641;BAA05786;BAA25840;BAB79470;CAG47028;CAG47038;CAJ42735;EAX06229;EAX06230;EAX06231;EAX06232;NP_000986;NP_296374;P49207 Hs.438227 1668652;1856589;5037552 D8S2279;SHGC-59280;SHGC-67267 L34;MGC111005 60S ribosomal protein L34;OTTHUMP00000162661;OTTHUMP00000162662;OTTHUMP00000219601;OTTHUMP00000219602;OTTHUMP00000219603;leukemia-associated protein APPROVED protein-coding ENSG00000109475 10340 17996 REVIEWED 2304817 RPL36AP18 ribosomal protein L36a pseudogene 18 4 4 4 q21.1 74622522 74622917 + 77322377 77322772 + 77322377 77322772 + 19123937 100271328 ABBA01063360;AC096743;AMYH01014314;NG_011157 RPL36A_5_491 pseudo 35484 INFERRED 2304815 RPL36AP19 ribosomal protein L36a pseudogene 19 4 4 4 q25 110385765 110386163 + 113092336 113092734 + 113092336 113092734 + 19123937 100271330 ABBA01063814;AC093663;AMYH01014468;NG_011165 RPL36A_7_509 pseudo 36436 INFERRED 1343028 RPL36AP2 ribosomal protein L36a pseudogene 2 14 14 14 q23.3 45790074 45790840 + 64805183 64806149 + 65735531 65736297 + 19123937 326301 ABBA01018384;AL355076;AMYH01005803;NG_002553 RPL36A_18_1380 pseudo 19777 INFERRED 2304816 RPL36AP20 ribosomal protein L36a pseudogene 20 5 5 5 q33.1 147950648 147950947 - 151875279 151875578 - 151875279 151875578 - 19123937 100271329 ABBA01026248;AC008571;AMYH01015720;NG_011160 RPL36A_6_630 pseudo 36250 INFERRED 2304813 RPL36AP21 ribosomal protein L36a pseudogene 21 5 5 5 p15.1 18718944 18719315 + 18049653 18050024 + 18049653 18050024 + 19123937 100271332 ABBA01054571;AC034247;AMYH01014945;NG_011174 RPL36A_8_545 pseudo 37041 INFERRED 2304740 RPL36AP23 ribosomal protein L36a pseudogene 23 4 4 4 q25 109766456 109766847 + 112692524 112692718 + 112472993 112473384 + 19123937 729075 ABBA01063804;AC083795;AMYH01014464;NG_011389 RPL36A_6_507 pseudo 36002 INFERRED 2304594 RPL36AP24 ribosomal protein L36a pseudogene 24 6 6 6 q21 109385390 109385793 + 108639256 108639658 + 108639256 108639658 + 19123937 100271508 ABBA01026149;AMYH01016578;NG_010779;Z98742 1821628;1958902;1958904;1958906;1958908;1958910;1958912;1958914;1958916;2213090 ECD11900;REN50318;REN50319;REN50320;REN50321;REN50322;REN50323;REN50324;REN50325;stSG634277 RPL36A_10_733 pseudo 36252 INFERRED 2304814 RPL36AP25 ribosomal protein L36a pseudogene 25 6 6 6 p22.3 21955635 21955876 - 20722559 20722800 - 20722559 20722800 - 19123937 100271331 ABBA01022264;AL035090;AMYH01016135;NG_011170;NG_021195 RPL36A_7_666 pseudo 35926 INFERRED 2305795 RPL36AP26 ribosomal protein L36a pseudogene 26 7 7 7 p21.2 15720729 15721132 - 15707511 15716342 - 15741003 15741406 - 19123937 729909 AACC02000008;ABBA01056624;AC005550;AMYH01017087;CH236948;NG_011362 RPL36A_8_787 pseudo 36758 INFERRED 2305900 RPL36AP27 ribosomal protein L36a pseudogene 27 7 7 7 p13 44649576 44649957 - 44517146 44517456 - 44550571 44550952 - 19123937 100128072 AACC02000110;ABBA01058219;AC004938;AMYH01017211;CH236960;NG_010387;NG_013088 1650104;2110603;2179517 NPC1L1_9593;RH46066;SGC38249 RPL36A_9_808 pseudo 35650 INFERRED 2304593 RPL36AP28 ribosomal protein L36a pseudogene 28 7 7 7 q36.1 146863307 146863668 - 152299239 152299600 - 152299239 152299600 - 19123937 100271509 ABBA01035124;AC104843;AMYH01018153;NG_010785 RPL36A_10_864 pseudo 36702 INFERRED 2304592 RPL36AP29 ribosomal protein L36a pseudogene 29 7 7 7 p21.1 16228317 16228637 + 16248573 16248893 + 16248573 16248893 + 19123937 100271510 AACC02000008;ABBA01056629;AC073629;AMYH01017089;CH236948;NG_010792;NG_032690 RPL36A_11_788 pseudo 36897 INFERRED 2304591 RPL36AP30 ribosomal protein L36a pseudogene 30 7 7 7 q36.3 151482767 151483146 - 157055716 157056095 - 157055716 157056095 - 19123937 100271511 AACC02000068;ABBA01032363;AC004975;AMYH01018191;CH236954;NG_010796 RPL36A_11_867 pseudo 36216 INFERRED 2305115 RPL36AP31 ribosomal protein L36a pseudogene 31 8 8 8 q21.3 83223291 83223718 + 87098164 87098471 + 87028987 87029414 + 19123937 642320 ABBA01037355;AC023194;AMYH01018855;NG_010062 RPL36A_13_923 pseudo 36066 INFERRED 2304590 RPL36AP32 ribosomal protein L36a pseudogene 32 8 8 8 p21.1 27627436 27627748 + 28667620 28667931 + 28667620 28667931 + 19123937 100271512 ABBA01005609;AC040975;AMYH01018605;NG_010801;NG_016981 RPL36A_12_887 pseudo 36540 INFERRED 2304589 RPL36AP34 ribosomal protein L36a pseudogene 34 9 9 9 p21 27138485 27138784 + 27210325 27210624 + 27210325 27210624 + 19123937 100271513 ABBA01065130;AL355433;AMYH01019295;NG_010808 RPL36A_14_970 pseudo 35882 INFERRED 2304465 RPL36AP35 ribosomal protein L36a pseudogene 35 9 9 9 q31.3 82083294 82083615 + 111583977 111584298 + 111583977 111584298 + 19123937 100271610 ABBA01042777;AL358779;AMYH01021617;NG_011295 RPL36A_16_1006 pseudo 35639 INFERRED 2304985 RPL36AP36 ribosomal protein L36a pseudogene 36 10 10 10 p13 13128243 13128639 - 13201421 13201817 - 13201421 13201817 - 19123937 644834 ABBA01034632;AL355355;AMYH01002042;NG_011167 RPL36A_13_1022 pseudo 36326 INFERRED 2304408 RPL36AP37 ribosomal protein L36a pseudogene 37 11 11 p15.1 16952745 16953237 - 16996176 16996591 - 19123937;21145461;14567916;15189156;17353931;3542712;21628590 729362 AC116533;AMYH01003410;NG_010078 RPL36A_14_1122 pseudo 36969 INFERRED 2304436 RPL36AP38 ribosomal protein L36a pseudogene 38 11 11 11 q14 71756398 71756714 - 74449525 74449841 - 74449525 74449841 - 19123937 100271642 ABBA01017480;AMYH01003813;AP001324;NG_010129 RPL36A_16_1155 pseudo 35594 INFERRED 2304435 RPL36AP39 ribosomal protein L36a pseudogene 39 11 11 11 p15.5 1851586 1851981 + 1813755 1814150 + 1813755 1814150 + 19123937 100271643 ABBA01012160;AC139143;AMYH01003315;NG_010138 1834450;2089006;2089008;2089010;2089012;2089014;2089016;2216392 ECD18373;REN115763;REN115764;REN115765;REN115766;REN115767;REN115768;stSG548487 RPL36A_17_1112 pseudo 36074 INFERRED 1349669 RPL36AP4 ribosomal protein L36a pseudogene 4 14 14 14 q32.12 73764330 73764793 + 92780059 92780522 + 93710306 93710769 + 19123937 326304 ABBA01030434;AC005924;AL132838;AMYH01005965;NG_002556 2191239 MARC_16723-16724:1018027059:1 RPL36A_19_1402 pseudo 19802 INFERRED 733438 RPL35A ribosomal protein L35a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Transcript variants utilizing alternative transcription initiation sites and alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 3 3 q29 199161449 199167119 + 197677052 197682722 + 1580863;6480464;7240710 17353931;18697920;15189156;14567916;18535205;15635413;15489334;12704204;12477932;12175552;11875025;10880769;9582194;8786106;8722009;7821789;2388839;1577483;16169070;21145461;19773262;20378560;20877624;14702039;12962325;22262766;21907836;22145905;12777385;18274552;21139048;21890473;21900206;21906983;23455922;23463506;22045982;20301769;17620599;23398456;21963094;23000965;21853274;22174317;22505724 6165 C9K025;F8WB72;F8WBS5;P18077 AB007182;AB055768;ABBA01007559;AC135893;AK026542;AK055653;AMYH01013810;AY871273;BC001037;BC010949;BC017093;BC061890;CH471252;NG_011743;NG_033072;NM_000996;X52966;X94619 AAH01037;AAH10949;AAH17093;AAH61890;AAX11429;BAA25841;BAB62862;CAA37138;CAA64325;EAW92248;EAW92249;EAW92250;NP_000987;P18077 Hs.529631 1651840;1739809 D3S3481E;D3S3954 DBA5;L35A 60S ribosomal protein L35a;OTTHUMP00000207884;OTTHUMP00000207885;OTTHUMP00000207886;cell growth-inhibiting gene 33 protein APPROVED protein-coding ENSG00000182899 10345 01596 180468;612528 REVIEWED 1353068 RPL35 ribosomal protein L35 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 9 q34.1 98268108 98272188 - 126659979 126664061 - 127620158 127624240 - 1580863;6480464 2891103;17353931;15189156;18029348;14567916;18523488;16341674;15635413;15489334;15164053;12962325;12477932;11401437;8722009;8076819;7821789;21145461;21319273;20562859;22863883;22939629;16196087;19167051;17620599;17361185;21628590;21900206;21987572;21907836;20972266;21139048;21890473;21906983;21963094;22505724;22944692 11224 F2Z388;H0Y3A0;P42766 AB046409;ABBA01043757;AK291072;AL354928;AMYH01021708;BC000348;BC010919;BC071915;BC094828;BM854016;CH471090;CR456877;CR996819;D17026;D17195;D28448;FB342981;FB711104;NM_007209;U12465 AAA51648;AAH00348;AAH10919;AAH71915;AAH94828;ABM82289;ABM85469;BAA05814;BAB21255;BAF83761;CAG33158;CAR81491;CAS91507;EAW87600;EAW87601;EAW87602;NP_009140;P42766 Hs.182825 1718023;1718717;5016893;5024320 RH122628;RH123045;RH66784;stSG609458 L35 60S ribosomal protein L35;OTTHUMP00000022107;OTTHUMP00000022108 APPROVED protein-coding ENSG00000136942 10344 10200 REVIEWED 2304434 RPL36AP41 ribosomal protein L36a pseudogene 41 12 12 12 q14.2 63930534 63930839 - 64265519 64265824 - 64265519 64265824 - 19123937 100271644 ABBA01026618;AC079866;AMYH01004542;NG_010145 RPL36A_17_1248 pseudo 35813 INFERRED 2304432 RPL36AP43 ribosomal protein L36a pseudogene 43 15 15 15 q26 66633887 66634285 - 90231113 90231511 - 90231113 90231511 - 19123937 100271646 ABBA01053019;AC013787;AMYH01006916;NG_010155 RPL36A_21_1460 pseudo 36791 INFERRED 2304433 RPL36AP42 ribosomal protein L36a pseudogene 42 14 14 14 q 29945278 29945655 - 50085460 50085837 - 50085460 50085837 - 19123937 100271645 ABBA01018111;AL139099;AMYH01005712;NG_010151;NG_033054 1688201;1792260;2180387 PMC140079P2;RH71370;WI-19962 RPL36A_18_1363 pseudo 36277 INFERRED 2304844 RPL36AP44 ribosomal protein L36a pseudogene 44 15 15 15 q22.2 37570735 37571128 + 58469810 58470173 + 60682537 60682930 + 19123937 100132199 ABBA01038951;AC087385;AMYH01006691;NG_010534 RPL36A_21_1441 pseudo 36986 INFERRED 2305886 RPL36AP45 ribosomal protein L36a pseudogene 45 15 15 15 q24.2 52429783 52430100 - 73266045 73275492 - 75478992 75479309 - 19123937 441727 AC113208;AMYH01006802;NG_011373 RPL36A_20_1453 pseudo 36032 INFERRED 2304431 RPL36AP47 ribosomal protein L36a pseudogene 47 17 17 17 q23.2 54783546 54783920 + 60397241 60397615 + 60397241 60397615 + 19123937 100271647 ABBA01035357;AC053481;AMYH01008543;NG_011347 RPL36A_22_1567 pseudo 35624 INFERRED 2305724 RPL36AP48 ribosomal protein L36a pseudogene 48 17 17 17 q24.2 61793461 61793847 + 62651306 62651655 + 65220816 65221202 + 19123937 646175 ABBA01029009;AC007448;AMYH01008583;NG_010166 RPL36A_23_1571 pseudo 36721 INFERRED 2305906 RPL36AP46 ribosomal protein L36a pseudogene 46 17 17 17 q23.2 57905073 57905390 - 56159308 56159625 - 58804526 58804843 - 19123937 729621 ABBA01035400;AC110602;AMYH01008531;NG_010098 RPL36A_22_1565 pseudo 35812 INFERRED 2305559 RPL36AP49 ribosomal protein L36a pseudogene 49 18 18 18 p11.21 13800514 13800921 - 13909564 13909954 - 13919572 13919979 - 19123937 284230 ABBA01074043;AMYH01008852;AP001086;NG_010372;NG_011819 RPL36A_23_1584 pseudo 36274 INFERRED 1352436 RPL36AP5 ribosomal protein L36a pseudogene 5 6 6 p21.1 44019776 44020177 + 42467416 42467817 + 19123937 387090 ABBA01050728;AL591473;AMYH01016304;NG_009373 RPL36A_9_691;bA256G5.1 pseudo 21258 INFERRED 2304430 RPL36AP50 ribosomal protein L36a pseudogene 50 19 19 19 q13.4 52524693 52524965 + 55485185 55485457 + 55485185 55485457 + 19123937 100271648 ABBA01068142;AC011476;AMYH01009977;CU151839;NG_010171 RPL36A_26_1671 pseudo 36372 INFERRED 2305468 RPL36AP51 ribosomal protein L36a pseudogene 51 19 19 19 p12 21251046 21251438 + 21207977 21208216 + 21416108 21416500 + 19123937 649299 ABBA01051370;AC010620;AMYH01009631;NG_010444 RPL36A_25_1638 pseudo 36632 INFERRED 2304464 RPL36AP53 ribosomal protein L36a pseudogene 53 X X X q24 114259220 114259622 + 113824051 113824453 + 113824051 113824453 + 19123937 100271611 ABBA01053582;AC007022;AC233299;AMYH01022851;NG_011299 RPL36A_27_1803 pseudo 36517 INFERRED 7204944 RPL36AP55 ribosomal protein L36a pseudogene 55 10 28193141 28194091 + 100420206 ABBA01034382;AL390866;AMYH01002207;NG_025480 pseudo 44939 INFERRED 2304463 RPL36AP54 ribosomal protein L36a pseudogene 54 X X X q26 134043564 134043864 + 133656730 133657030 + 133656730 133657030 + 19123937 100271612 ABBA01042451;AC004383;AMYH01022993;NG_011305 RPL36A_28_1814 pseudo 35831 INFERRED 2303331 RPL36AP6 ribosomal protein L36a pseudogene 6 9 9 q31.2 81095701 81096100 - 110596738 110597137 - 19123937 641556 ABBA01042782;AL162389;AMYH01021616;NG_009374 RPL36A_12_1002;bA380I20.1 pseudo 23365 INFERRED 733562 RPL36AL ribosomal protein L36a-like Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 14 14 14 q21 29945224 29947167 - 49155156 49157099 - 50085406 50087349 - 1580863;6480464 3542712;3396452;1577483;15489334;12490704;12477932;8722009;17207965;21182205;16196087;21900206;21628590;8889548;21182203;23000965;23246001 6166 Q969Q0 AB063609;ABBA01018111;AK311959;AL139099;AMYH01005712;BC000741;BC003145;BC070207;BC107716;BM973694;CH471078;CR542166;DB447621;HY121971;M15661;NG_008920;NG_033054;NM_001001 AAA36589;AAH00741;AAH03145;AAH70207;AAI07717;ADQ33197;BAC19836;BAG34899;CAG46963;EAW65760;NP_000992;Q969Q0 Hs.444749;Hs.745129 1648634;1688201;1792260;2180387;5014937 D6S1904;PMC140079P2;RH71370;SHGC-36981;WI-19962 MGC111574;RPL36A 60S ribosomal protein L36a;60S ribosomal protein L36a-like;OTTHUMP00000178927;ribosomal protein HL44;ribosomal protein L36a-like protein APPROVED protein-coding 10346 01597 180469 REVIEWED 1315369 RPL36A ribosomal protein L36a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Naturally occurring read-through transcription occurs between this locus and the heterogeneous nuclear ribonucleoprotein H2 (H') gene. [provided by RefSeq, Jan 2011] X X X q22.1 101165405 101170242 + 100532604 100537439 + 100645878 100651142 + 6480464 14752831;17353931;15189156;14567916;3542712;15772651;15489334;14702039;12477932;11401437;10409428;9110171;8722009;8012384;7959728;7821789;7626884;15342556;20967262;21182205;12962325;16196087;22354994;22367689;23000965;23398456 6173 H0Y5B4;H7BY91;J3KQN4;P83881;R4GN19 ABBA01044978;AK096711;AL035422;AMYH01022725;AW150895;AY927233;BC001781;BC031015;BC062219;BC070204;BF211310;BG504049;BG943625;BP245950;CH471115;CR542198;D28414;NG_012523;NM_001199972;NM_021029;U78027;Z55036;Z57591 AAB64204;AAH01781;AAH31015;AAH62219;AAH70204;AAX08138;BAA05780;CAG46995;EAX02859;EAX02860;EAX02861;NP_001186901;NP_066357;P83881 Hs.432485;Hs.655348 1773659;5015961;5037552;5126169 D15S1179;D15S1477;D8S2279;RP_L36A_1 L36A;L44L;MGC72020;MIG6;RPL44 60S ribosomal protein L36a;60S ribosomal protein L44;L44-like ribosomal protein;OTTHUMP00000023680;OTTHUMP00000201955;OTTHUMP00000219410;cell growth-inhibiting gene 15 protein;cell migration-inducing gene 6 protein;dJ164F3.3 (ribosomal protein L44);migration-inducing protein 6;ribosomal protein L36a homologue APPROVED protein-coding ENSG00000241343 10359 06709 300902 REVIEWED 2303862 RPL36AP7 ribosomal protein L36a pseudogene 7 17 17 17 q25.1 69927371 69927768 + 70846502 70846872 + 73334881 73335278 + 19123937;11181995 728202 ABBA01028801;AC011933;AMYH01008633;CH471099;NG_006535;NG_029556 EAW89273 RPL36A_24_1574 pseudo 31328 INFERRED 2305053 RPL36AP9 ribosomal protein L36a pseudogene 9 1 1 p34.1 40013139 40013517 - 41730173 41730551 - 19123937 100271139 ABBA01023152;AC093151;AMYH01000542;NG_010185 RPL36A_1_38 pseudo 35872 INFERRED 2303828 RPL36AP8 ribosomal protein L36a pseudogene 8 15 15 15 q14 11994601 11994997 + 33022542 33022953 + 35235252 35235648 + 19123937;11181995 643007 ABBA01038516;AC018868;AMYH01006540;CH471125;NG_009452 EAW92322 RPL36A_20_1424 pseudo 30973 INFERRED 1345831 RPL36P1 ribosomal protein L36 pseudogene 1 20 20 20 q13 48211318 48211545 + 50940002 50940429 + 51506696 51506923 + 19123937 140697 ABBA01052840;AL121902;AMYH01011991;NG_000983 RPL36_9_1713;bA80K6.3 pseudo 16338 INFERRED 2305203 RPL36P10 ribosomal protein L36 pseudogene 10 6 6 p12.3 47958576 47958879 + 46406047 46406350 + 19123937 100271011 ABBA01050620;AL359633;AMYH01016326;NG_010851;NG_030437 RPL36_3_697 pseudo 36318 INFERRED 2304865 RPL36P11 ribosomal protein L36 pseudogene 11 5 5 5 q31.3 136065417 136065735 + 139988670 139988988 + 139988670 139988988 + 19123937;11181995 642531 ABBA01026424;AC116353;AMYH01015660;CH471062;NG_011386 EAW62038 RPL36_1_620 pseudo 36271 INFERRED 2305202 RPL36P12 ribosomal protein L36 pseudogene 12 7 7 7 q22-q31.1 99690670 99691096 + 104885036 104885462 + 104885036 104885462 + 19123937 100271012 AACC02000004;ABBA01057958;AC004884;AMYH01017818;CH236947;NG_010855 RPL36_4_831 pseudo 35590 INFERRED 2304991 RPL36P14 ribosomal protein L36 pseudogene 14 9 9 9 q31.3 81888368 81888801 + 110428934 110429310 + 111389046 111389479 + 6480464 19123937 347292 P0C6E6 ABBA01042778;AL669983;AMYH01021617;NG_009517 P0C6E6 1768315 RP_L36 RPL36_5_1005 pseudo 35734 INFERRED 2304812 RPL36P15 ribosomal protein L36 pseudogene 15 12 12 12 q24.22 116975654 116975973 + 117346117 117346436 + 117346117 117346436 + 19123937 100271334 ABBA01020023;AC083806;AMYH01004779;NG_011182 RPL36_6_1283 pseudo 36787 INFERRED 2305467 RPL36P16 ribosomal protein L36 pseudogene 16 19 19 q13.2 38475879 38476184 + 41675866 41675973 + 19123937;17717079;15128046;12832682;11181079;9890157;2813061;2726448;2573390;2308828;1974816 651600 ABBA01040800;AC008962;AMYH01009817;NG_029341 RPL36_7_1657 pseudo 37010 INFERRED 2304811 RPL36P17 ribosomal protein L36 pseudogene 17 22 22 22 q12.2 14300817 14301125 - 30501089 30501397 - 30501089 30501397 - 19123937 100271336 ABBA01055291;AC003071;AMYH01012705;NG_011192 RPL36_8_1743 pseudo 35884 INFERRED 2305667 RPL36AP33 ribosomal protein L36a pseudogene 33 9 9 p13.3 35441092 35441489 + 35507531 35507928 + 19123937;12477932 100191039 Q05CT7 ABBA01064991;AL133476;AMYH01019346;BC020828;NG_008765 AAH20828 Hs.684462 KIAA0375;MGC23914;RPL36A_15_975 pseudo 36475 INFERRED 6481500 RPL36P19 ribosomal protein L36 pseudogene 19 13 43968663 43968965 + 100873855 ABBA01021247;AL138823;AMYH01005078;NG_032527 pseudo 42648 INFERRED 2304759 RPL36P18 ribosomal protein L36 pseudogene 18 X X X q23 114868139 114868540 + 114432962 114433363 + 114432962 114433363 + 19123937 100271394 ABBA01053651;AL589786;AMYH01022853;NG_010182;NG_021299 RPL36_10_1804 pseudo 36856 INFERRED 7174983 RPL36P20 ribosomal protein L36 pseudogene 20 3 p22.1 41996937 41997252 + 729032 ABBA01024776;AC137935;AMYH01013110;NG_030110 pseudo 44564 INFERRED 2305201 RPL36P13 ribosomal protein L36 pseudogene 13 7 7 7 q31 108743611 108744006 - 113937122 113937517 - 113937122 113937517 - 19123937 100271013 AACC02000001;ABBA01057830;AC073626;AMYH01017875;CH236947;NG_007491;NG_010861 1803598;1804832;1837246;2061014;2061016;2061018;2061020;2061022;2061024;2061026;2061028;2061030;2061032;2061034;2061036;2192580;2192582 ECD02703;ECD03351;ECD19790;REN101682;REN101683;REN101684;REN101685;REN101686;REN101687;REN101688;REN101689;REN101690;REN101691;REN101692;REN101693;stSG611210;stSG611211 RPL36_5_837 pseudo 36941 INFERRED 1350263 RPL36P2 ribosomal protein L36 pseudogene 2 20 20 20 q13.1 45941527 45941927 + 48670611 48671121 + 49237258 49237658 + 19123937 140751 ABBA01052781;AL133230;AMYH01011974;NG_000994 RPL36_8_1711;dJ530I15.5 pseudo 16570 INFERRED 2305923 RPL36P5 ribosomal protein L36 pseudogene 5 1 1 1 p36.11 22663993 22664630 - 24206958 24207596 - 24334371 24335009 - 19123937 127295 ABBA01059895;AL590609;AMYH01000369;NG_010335 RPL36_1_21 pseudo 35567 INFERRED 1346177 RPL36P3 ribosomal protein L36 pseudogene 3 14 14 14 q24.2 53459416 53459811 - 72465928 72466497 - 73396277 73396672 - 19123937;9847074 326303 ABBA01030777;AC007160;AMYH01005841;NG_002555 RPL36AP3;RPL36_6_1387 pseudo 19786 INFERRED 1347593 RPL36P4 ribosomal protein L36 pseudogene 4 20 20 20 q11.2 30880442 30880871 - 33595589 33595906 - 34132122 34132551 - 19123937 140750 ABBA01019158;AL121586;AMYH01011874;NG_000993 1833986;1974552;1974554;1974556;1974558;1974560;1974562;1974564;1974566 ECD18140;REN58162;REN58163;REN58164;REN58165;REN58166;REN58167;REN58168;REN58169 RPL36_7_1697;dJ477O4.3 pseudo 16569 INFERRED 2305206 RPL36P6 ribosomal protein L36 pseudogene 6 1 1 q43 214723945 214724231 - 241468903 241469189 - 19123937 100271008 ABBA01033247;AL592076;AMYH01001875;NG_010839 RPL36_2_186 pseudo 36046 INFERRED 2305204 RPL36P7 ribosomal protein L36 pseudogene 7 3 3 q29 195899793 195900072 - 197307221 197307500 - 19123937 100271010 ABBA01033772;AC132008;AMYH01013806;NG_010847 RPL36_3_453 pseudo 35830 INFERRED 2305917 RPL36P8 ribosomal protein L36 pseudogene 8 4 4 4 q21.1 74258387 74258702 - 77176927 77177241 - 76957903 76958217 - 19123937 643205 ABBA01063355;AC112719;AMYH01014310;NG_010694 RPL36_4_490 pseudo 36493 INFERRED 2305205 RPL36P9 ribosomal protein L36 pseudogene 9 6 6 p21.2 37129332 37129719 + 35575370 35575757 + 19123937 100271009 ABBA01038238;AL033519;AMYH01016267;NG_010844;NG_012645 RPL36_2_687 pseudo 36746 INFERRED 1345901 RPL37AP1 ribosomal protein L37a pseudogene 1 20 20 20 q12 39803795 39804165 - 42528518 42528996 - 43095143 43095513 - 19123937 140717 ABBA01052642;AL132772;AMYH01011933;NG_000988 RPL37A_5_1704;dJ1013A22.4 pseudo 16548 INFERRED 2304810 RPL37AP2 ribosomal protein L37a pseudogene 2 4 4 4 q12 50339329 50339619 - 52844248 52844538 - 52844248 52844538 - 19123937 100271337 ABBA01003373;AC104784;AMYH01014173;NG_011201 RPL37A_1_476 pseudo 36880 INFERRED 2305861 RPL37AP3 ribosomal protein L37a pseudogene 3 6 6 6 q21 109884785 109885031 + 109245576 109245822 + 109138883 109139129 + 19123937 100132988 ABBA01026142;AMYH01016580;NG_010643;Z95118 RPL37A_1_734 pseudo 36222 INFERRED 2304809 RPL37AP4 ribosomal protein L37a pseudogene 4 6 6 6 q26 164514267 164514543 + 163784230 163784506 + 163784230 163784506 + 19123937 100271338 ABBA01015112;AL031121;AMYH01016835;NG_011210 RPL37A_2_776 pseudo 35586 INFERRED 2304734 RPL37AP5 ribosomal protein L37a pseudogene 5 7 7 7 q34 133650380 133650761 - 138562727 138566950 - 138912224 138912605 - 19123937 100129856 AACC02000025;ABBA01001186;AC009220;AMYH01017976;CH236950;NG_010341 RPL37A_2_859 pseudo 36977 INFERRED 2304808 RPL37AP6 ribosomal protein L37a pseudogene 6 7 7 7 q22-q31 101895807 101896079 + 107090535 107090807 + 107090535 107090807 + 19123937 100271339 AACC02000004;ABBA01057907;AC002381;AMYH01017830;CH236947;NG_011215;NG_028095 RPL37A_3_833 pseudo 36824 INFERRED 2305333 RPL37AP7 ribosomal protein L37a pseudogene 7 11 11 11 p14.1 27651058 27651430 + 27461973 27462251 + 27505366 27505738 + 19123937;22504420 100131730 ABBA01060971;AC100771;AMYH01003456;NG_010768 RPL37A_4_1128 pseudo 35888 INFERRED 2304467 RPL37AP9 ribosomal protein L37a pseudogene 9 12 12 12 p13.1 18142470 18142745 - 12993738 12994013 - 12993738 12994013 - 19123937 100271606 ABBA01067853;AC007215;AMYH01004292;NG_011276 RPL37A_4_1209 pseudo 36835 INFERRED 1347650 RPL37P1 ribosomal protein L37 pseudogene 1 20 20 20 q11.2 30924546 30924829 + 33639560 33640043 + 34176247 34176530 + 19123937 140696 ABBA01019154;AL389875;AMYH01011875;NG_000982 1836798;1974874;1974876;1974878;1974880;1974882;1974884;1974886;1974888;1974890;1974892;1974894;1974896;2215452;2215454 ECD19563;REN58323;REN58324;REN58325;REN58326;REN58327;REN58328;REN58329;REN58330;REN58331;REN58332;REN58333;REN58334;stSG636719;stSG636720 RPL37_9_1698;bA563A22B.2 pseudo 16337 INFERRED 2305199 RPL37P10 ribosomal protein L37 pseudogene 10 2 2 p11.2 83648016 83648279 + 83822107 83822370 + 19123937 100271015 ABBA01075710;AC023881;AMYH01010485;NG_010869 RPL37_2_245 pseudo 36951 INFERRED 2305198 RPL37P11 ribosomal protein L37 pseudogene 11 2 2 p23 26744687 26744978 - 26901087 26901378 - 19123937 100271016 ABBA01045187;AC015977;AMYH01010192;NG_010873 1665060 D8S1938 RPL37_3_203 pseudo 36459 INFERRED 2305197 RPL37P12 ribosomal protein L37 pseudogene 12 2 2 q13 104478901 104479210 + 110310114 110310423 + 19123937 100271017 ABBA01009001;AC011753;AMYH01010858;NG_010879 RPL37_3_259 pseudo 36989 INFERRED 2305196 RPL37P13 ribosomal protein L37 pseudogene 13 2 2 p15 62579514 62579795 - 62734677 62734958 - 19123937 100271018 ABBA01075389;AC107083;AMYH01010392;NG_010885 RPL37_4_228 pseudo 36255 INFERRED 2305513 RPL37AP8 ribosomal protein L37a pseudogene 8 11 11 11 q23.1 108913083 108913767 - 111265133 111265339 - 111759867 111760551 - 6480464 19123937;11181995;21906983 644338 A6NKH3 ABBA01039811;AMYH01004032;AP000907;AP001781;CH471065;NG_011253 A6NKH3;EAW67161 1774359;1851592;2127623 D11S2244E;RH17897;SHGC-31520 RPL37A_3_1174 pseudo 35645 INFERRED 2304394 RPL36AP40 ribosomal protein L36a pseudogene 40 11 11 11 p14.3 25754845 25755346 - 25566388 25567089 - 25609911 25610412 - 19123937;12477932;11401437 554234 ABBA01060989;AC015820;AMYH01003453;BC058160;NG_005141 Hs.502159 5014937 D6S1904 RPL36A_15_1127 pseudo 36300 INFERRED 2304961 RPL37P17 ribosomal protein L37 pseudogene 17 9 9 9 q34 104138704 104138968 - 133600173 133600437 - 133600173 133600437 - 19123937 100271202 ABBA01012061;AL359092;AMYH01021772;NG_010508 RPL37_7_1015 pseudo 36023 INFERRED 2305195 RPL37P14 ribosomal protein L37 pseudogene 14 4 4 p13-p12 40935234 40935524 + 40493752 40494042 + 19123937 100271019 ABBA01014249;AC098869;AMYH01014126;NG_010890 RPL37_4_470 pseudo 36871 INFERRED 2305193 RPL37P16 ribosomal protein L37 pseudogene 16 7 7 7 q32.1 122876587 122876878 - 128073476 128073767 - 128073476 128073767 - 19123937 100271021 ABBA01057673;AC010655;AMYH01017918;NG_010897 RPL37_6_843 pseudo 35949 INFERRED 2305194 RPL37P15 ribosomal protein L37 pseudogene 15 6 6 q12-q13 71196684 71196977 - 70808281 70808574 - 19123937 100271020 ABBA01040266;AL133388;AMYH01016415;NG_010894 RPL37_5_710 pseudo 36659 INFERRED 2304805 RPL37P18 ribosomal protein L37 pseudogene 18 10 10 10 p11.22-p11.21 34718092 34718316 - 34952805 34953029 - 34952805 34953029 - 19123937 100271342 ABBA01033354;AL138768;AMYH01002230;NG_011234 RPL37_8_1033 pseudo 35919 INFERRED 736673 RPL36 ribosomal protein L36 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 5627643 5629049 + 5641272 5642678 + 5690272 5691678 + 6480464 15635413;15489336;15489334;12962325;12477932;11875025;11401437;11230166;11076863;11042152;8722009;17353931;15189156;14567916;11256614;19061985;16381901;16341674;16169070;17620599;21145461;21319273;21182205;21832049;22863883;22939629;16196087;18781797;21139048;21906983;17361185;18029348;22505724;19738201;19805454;21963094;22623428;23000965;23246001;23398456;23455922;23463506 25873 J3KTD3;J3QSB5;Q9Y3U8 AB046410;AB061833;ABBA01056001;AC011499;AF077043;AK311990;AL050273;AMYH01009363;BC003052;BC004971;BC091508;BM015858;BM841746;CH471139;CR533465;NG_017015;NG_033142;NM_015414;NM_033643 AAD27776;AAH03052;AAH04971;AAH91508;ABM83022;ABM86215;BAB21256;BAB79471;BAG34928;CAB43374;CAG38496;CAL38051;CAL38621;EAW69155;EAW69158;NP_056229;NP_378669;Q9Y3U8 Hs.408018 1768315;2108401;5124477 PRSS15_7943;RH69943;RP_L36 DKFZp566B023;L36 60S ribosomal protein L36 APPROVED protein-coding ENSG00000130255 13631 10201 REVIEWED 2304588 RPL37P19 ribosomal protein L37 pseudogene 19 12 12 12 q13.1 47246380 47246665 - 48448751 48449036 - 48448751 48449036 - 19123937 100271515 ABBA01031474;AC004801;AMYH01004428;NG_010817 RPL37_10_1232 pseudo 35576 INFERRED 1351046 RPL37P2 ribosomal protein L37 pseudogene 2 11 11 11 q13 64783447 64783812 - 67206740 67207105 - 67450164 67450529 - 19123937 116730 ABBA01024026;AMYH01003748;AP003385;NG_001301;NG_012255;U56856 1665060 D8S1938 PSANK1;RPL37_9_1150 pseudo 17092 INFERRED 2304807 RPL37P20 ribosomal protein L37 pseudogene 20 12 12 12 p13 8762299 8762589 + 7139412 7139702 + 7139412 7139702 + 19123937 100271340 ABBA01017671;AC006512;AMYH01004212;NG_011219 RPL37_6_1200 pseudo 36562 INFERRED 2304806 RPL37P22 ribosomal protein L37 pseudogene 22 17 17 17 q12 30314007 30314262 + 33403811 33404066 + 33403811 33404066 + 19123937 100271341 ABBA01011225;AC004223;AMYH01008353;NG_011228 RPL37_7_1538 pseudo 37019 INFERRED 2304587 RPL37P21 ribosomal protein L37 pseudogene 21 13 13 13 q21.33 49808266 49808547 - 68905464 68905745 - 68905464 68905745 - 19123937 100271516 ABBA01050294;AL356954;AMYH01005190;NG_010821 RPL37_11_1318 pseudo 36256 INFERRED 2305838 RPL37P23 ribosomal protein L37 pseudogene 23 19 19 19 q13.41 49695441 49696211 + 57337691 57338461 + 52645879 52646649 + 19123937 648217 ABBA01068261;AC011468;AMYH01009954;NG_010124 RPL37_8_1665 pseudo 37003 INFERRED 2304758 RPL37P24 ribosomal protein L37 pseudogene 24 X X X p11.22 58005030 58005323 + 54173799 54174092 + 54173799 54174092 + 19123937 100271395 ABBA01069671;AL589872;AMYH01022430;NG_010186;NG_021316 RPL37_11_1779 pseudo 36201 INFERRED 1348663 RPL37P3 ribosomal protein L37 pseudogene 3 21 21 21 q21.1 4444929 4445288 - 18188236 18188795 - 19266465 19266824 - 19123937;10830953 378818 ABBA01057127;AMYH01012150;AP000745;AP001671;NG_005972 RL37P;RPL37_13_1720 pseudo 17238 INFERRED 1605743 RPL37P5 ribosomal protein L37 pseudogene 5 14 14 14 q23.1 41088865 41089209 - 60108381 60108922 - 61038728 61039069 - 19123937 654369 ABBA01018283;AL049874;AMYH01005766;NG_005974 RPL37_12_1377 pseudo 23549 INFERRED 2305200 RPL37P8 ribosomal protein L37 pseudogene 8 1 1 q44 218147612 218147902 - 244857732 244858022 - 19123937 100271014 ABBA01047195;AL451007;AMYH01001897;NG_010864 1665060;2128135 D8S1938;RP_L37_1 RPL37_2_190 pseudo 36279 INFERRED 2305390 RPL37P7 ribosomal protein L37 pseudogene 7 1 1 p32.3 52594924 52595213 + 54307218 54307507 + 19123937 100270890 ABBA01074731;AL049745;AMYH01000631;NG_010225 RPL37_1_52 pseudo 36499 INFERRED 2305447 RPL37P9 ribosomal protein L37 pseudogene 9 1 1 p36.31-p36.23 6009134 6009406 - 6894388 6894660 - 19123937 100270828 ABBA01035468;AL590128;AMYH01000218;NG_011217 RPL37_1_4 pseudo 35688 INFERRED 1603842 RPL37P6 ribosomal protein L37 pseudogene 6 8 8 8 q12.1 53491747 53492136 + 57663404 57663993 + 57500951 57501340 + 6480464 19123937 346950 ABBA01041773;AC013644;AMYH01018736;NG_005971 RPL37_5_905 pseudo 31080 INFERRED 1345580 RPL38P1 ribosomal protein L38 pseudogene 1 3 3 3 q24 146824084 146824377 - 149896345 149896784 - 148413742 148414035 - 9375793;8185574;8166699;19123937 116809 ABBA01058952;AC024897;AF245699;AMYH01013568;NG_000963;NG_008468;S70431;U07144 2144495 RH11116 RPL38_1_417 pseudo 17093 INFERRED 2304614 RPL38P2 ribosomal protein L38 pseudogene 2 2 2 2 p12 77848752 77849096 + 77873455 77873664 + 78019877 78020221 + 19123937 100129991 ABBA01075648;AC105399;AMYH01010466;NG_011032 RPL38_1_244 pseudo 36620 INFERRED 1346315 RPL37P4 ribosomal protein L37 pseudogene 4 21 21 21 q21.1 6135466 6136030 + 19887892 19888456 + 20966021 20966585 + 19123937;10830953 378819 ABBA01057147;AMYH01012156;AP000403;AP001676;NG_005973 RL37P2;RPL37_10_1721 pseudo 17239 INFERRED 7247046 RPL38P4 ribosomal protein L38 pseudogene 4 100130963 ABBA01026929;AC021660;AMYH01013351;NG_010776 pseudo 48867 INFERRED 2304612 RPL38P3 ribosomal protein L38 pseudogene 3 4 4 4 q12 53344204 53344486 - 55537083 55537295 - 55842282 55842564 - 19123937 100132311 ABBA01003405;AC111194;AMYH01014188;NG_011115 RPL38_2_479 pseudo 35980 INFERRED 1342999 RPL39P ribosomal protein L39 pseudogene 20 20 20 q13.2 51774719 51775116 - 54467791 54468146 - 55034291 55034688 - 19123937 140719 ABBA01052893;AL121914;AMYH01012005;NG_000990 2176599 STS-R85320 RPL39_20_1715;dJ1167H4.5 pseudo 16558 INFERRED 2304616 RPL39P10 ribosomal protein L39 pseudogene 10 1 1 1 q43 212470239 212470626 - 237282485 237282863 - 239215871 239216258 - 6480464 19123937 100129952 ABBA01033213;AL590135;AMYH01001867;NG_010843 RPL39_4_182 pseudo 35745 INFERRED 2305192 RPL39P11 ribosomal protein L39 pseudogene 11 1 1 q25 152348516 152348666 - 179240251 179240401 - 19123937 100271022 ABBA01027817;AL512326;AMYH01001530;NG_010901 RPL39_3_134 pseudo 36798 INFERRED 2305446 RPL39P12 ribosomal protein L39 pseudogene 12 1 1 p36.33 1646639 1646794 + 943454 943609 - 19123937 100270829 ABBA01016008;AL645608;AMYH01000104;NG_011226 RPL39_1_3 pseudo 36166 INFERRED 2305750 RPL39P13 ribosomal protein L39 pseudogene 13 1 1 1 p22.1 90312344 90312735 + 91838316 91838588 + 92065669 92066061 + 6480464 19123937 100130802 ABBA01045565;AL714022;AMYH01000790;NG_011255 RPL39_3_72 pseudo 36705 INFERRED 2304845 RPL39P14 ribosomal protein L39 pseudogene 14 2 2 2 q33.1 196848163 196848555 + 202804665 202804820 + 203096371 203096763 + 19123937 100132127 ABBA01062554;AC079354;AMYH01011407;NG_010167;NG_011679 RPL39_6_311 pseudo 36609 INFERRED 2304981 RPL39P15 ribosomal protein L39 pseudogene 15 2 2 2 p13.3 70331500 70331877 - 70480810 70481187 - 70480810 70481187 - 19123937 647236 ABBA01075531;AC016700;AMYH01010425;NG_009585 RPL39_5_239 pseudo 35856 VALIDATED 2305191 RPL39P16 ribosomal protein L39 pseudogene 16 2 2 q13 103804708 103804863 + 109494764 109494919 + 19123937 100271023 ABBA01000765;AC073415;AMYH01010857;NG_010908 2132738 RH70637 RPL39_5_258 pseudo 35912 INFERRED 2305190 RPL39P17 ribosomal protein L39 pseudogene 17 3 3 p25.1 13032549 13032957 - 13094274 13094682 - 19123937 100271024 ABBA01025186;AC069271;AMYH01012990;NG_010914 1792262 PMC140079P3 RPL39_6_343 pseudo 35545 INFERRED 2305189 RPL39P18 ribosomal protein L39 pseudogene 18 3 3 p24.3 19994424 19994822 + 20053895 20054293 + 19123937 100271025 ABBA01025091;AC097635;AMYH01013012;NG_010919 1664635 SHGC-76753 RPL39_7_347 pseudo 36111 INFERRED 2305188 RPL39P19 ribosomal protein L39 pseudogene 19 3 3 q27 185270574 185270969 - 186838742 186839137 - 19123937 100271027 ABBA01058377;AC007488;AMYH01013741;NG_010926 1792264;2177332 PMC140079P4;UniSTS:64548 RPL39_8_448 pseudo 36346 INFERRED 1344131 RPL39P2 ribosomal protein L39 pseudogene 2 14 14 14 q11.2 3561679 3562043 - 22768717 22769281 - 23698977 23699341 - 19123937 326306 ABBA01061317;AL049829;AMYH01005602;NG_002558 RPL39_16_1342 pseudo 19774 INFERRED 2305642 RPL39P20 ribosomal protein L39 pseudogene 20 5 5 5 q14.1 75512760 75513156 + 79647246 79647417 + 79611441 79611837 + 6480464 19123937 100131160 ABBA01062033;AC026410;AMYH01015445;NG_010462;NG_030332 RPL39_10_584 pseudo 36366 INFERRED 2305473 RPL39P21 ribosomal protein L39 pseudogene 21 5 5 5 q13.3 70121847 70122249 + 74258548 74265268 + 74227433 74227835 + 19123937 644499 ABBA01061940;AC116337;AMYH01015407;NG_010774 RPL39_9_576 pseudo 36218 INFERRED 2305187 RPL39P22 ribosomal protein L39 pseudogene 22 5 5 p13 36475534 36475689 + 36588608 36588763 + 19123937 100271028 ABBA01024174;AC010631;AMYH01015026;NG_010931 RPL39_8_554 pseudo 36072 INFERRED 2304757 RPL39P24 ribosomal protein L39 pseudogene 24 9 9 9 q34.13 106379587 106379904 + 135837840 135838158 + 135837840 135838158 + 19123937 100271396 ABBA01032477;AL593851;AMYH01021793;NG_010191 RPL39_11_1016 pseudo 36431 INFERRED 2304960 RPL39P23 ribosomal protein L39 pseudogene 23 7 7 7 p12-p11.2 50976262 50976409 - 50911382 50911529 - 50911382 50911529 - 19123937;9847074 100271203 AACC02000075;ABBA01011806;AC004920;AC009296;AMYH01017246;CH236955;NG_010511 1724653 RH121327 RPL39_10_809 pseudo 36581 INFERRED 2304586 RPL39P25 ribosomal protein L39 pseudogene 25 10 10 10 q22.2 70317405 70317558 - 77029150 77029303 - 77029150 77029303 - 19123937 100271517 ABBA01020260;AC010997;AMYH01002837;NG_010826 RPL39_11_1067 pseudo 37002 INFERRED 2304585 RPL39P26 ribosomal protein L39 pseudogene 26 11 11 11 p15.2 13832787 13832943 - 13707046 13707202 - 13707046 13707202 - 19123937 100271518 ABBA01061121;AC013828;AMYH01003399;NG_010831 RPL39_12_1121 pseudo 35900 INFERRED 2305747 RPL39P27 ribosomal protein L39 pseudogene 27 12 12 12 p12.1 30709151 30709322 - 25453475 25453646 - 25562208 25562379 - 6480464 19123937 100133222 ABBA01068020;AC092451;AMYH01004340;NG_010530 RPL39_13_1220 pseudo 36114 INFERRED 2304583 RPL39P28 ribosomal protein L39 pseudogene 28 12 12 12 q15 68059208 68059362 - 68395174 68395328 - 68395174 68395328 - 19123937 100271520 ABBA01026561;AC005294;AMYH01004559;NG_010840 RPL39_14_1253 pseudo 35619 INFERRED 2304581 RPL39P29 ribosomal protein L39 pseudogene 29 13 13 13 q34 83757652 83758060 - 102915195 102915603 - 102915195 102915603 - 19123937 100271522 ABBA01027075;AL356266;AMYH01005341;NG_010848 RPL39_15_1333 pseudo 35808 INFERRED 2304584 RPL39P30 ribosomal protein L39 pseudogene 30 16 16 16 q24.2 71598417 71598821 + 87301737 87302141 + 87301737 87302141 + 19123937 100271519 ABBA01034326;AC010531;AMYH01007898;NG_010837 RPL39_12_1504 pseudo 36979 INFERRED 1352723 RPL39P3 ribosomal protein L39 pseudogene 3 6 6 6 q13 74477201 74477584 - 74139273 74139857 - 74082653 74083036 - 19123937;11181995;9847074 285785 ABBA01040314;AC019205;AMYH01016425;CH471051;NG_003156 EAW48771 1792262;1834282;1838552;1923498;1923500;1923502;1923504;1923506;1923508;1923510;1923512;1923514;1923516;1923518;2207246;2207248 ECD18289;ECD20450;PMC140079P3;REN32573;REN32574;REN32575;REN32576;REN32577;REN32578;REN32579;REN32580;REN32581;REN32582;REN32583;stSG625851;stSG625852 RPL39_9_712 pseudo 21383 INFERRED 2304578 RPL39P31 ribosomal protein L39 pseudogene 31 16 16 16 q22 56339159 56339313 - 72025050 72025204 - 72025050 72025204 - 19123937 100271525 ABBA01016796;AC009127;AMYH01007795;NG_010862;NG_032958 RPL39_17_1495 pseudo 36488 INFERRED 2305562 RPL39P32 ribosomal protein L39 pseudogene 32 17 17 17 q12 30803605 30804011 + 30917649 30917820 + 33893479 33893885 + 6480464 19123937 100131387 ABBA01011230;AC015911;AMYH01008354;NG_010314 RPL39_13_1539 pseudo 36959 INFERRED 2304582 RPL39P33 ribosomal protein L39 pseudogene 33 17 17 17 q22 51112108 51112260 + 54650404 54650556 + 54650404 54650556 + 19123937 100271521 ABBA01041303;AC015724;AMYH01008492;NG_010845 RPL39_14_1560 pseudo 36315 INFERRED 2304580 RPL39P34 ribosomal protein L39 pseudogene 34 19 19 19 q13.3 50118183 50118338 + 53067329 53067484 + 53067329 53067484 + 19123937 100271523 ABBA01068248;AC022150;AMYH01009956;NG_010853 RPL39_15_1666 pseudo 36528 INFERRED 2304579 RPL39P35 ribosomal protein L39 pseudogene 35 19 19 19 q13.41 50930817 50931133 + 53889433 53889749 + 53889433 53889833 + 19123937 100271524 ABBA01068216;AC125388;AMYH01009959;NG_010856 1686576;2114974 RH76350;SHGC-37292 RPL39_16_1667 pseudo 35815 INFERRED 2304577 RPL39P36 ribosomal protein L39 pseudogene 36 19 19 19 q13.41 50957832 50957984 + 53916446 53916598 + 53916446 53916598 + 19123937 100271526 ABBA01068216;AC022137;AMYH01009959;NG_010865 RPL39_17_1668 pseudo 36076 INFERRED 2304576 RPL39P37 ribosomal protein L39 pseudogene 37 19 19 19 q13.41 51040587 51040737 + 53999141 53999291 + 53999141 53999291 + 19123937 100271528 ABBA01068214;AC022137;AMYH01009960;NG_010875 RPL39_18_1669 pseudo 36282 INFERRED 2304575 RPL39P38 ribosomal protein L39 pseudogene 38 19 19 19 p13.1 18297726 18298105 - 18395976 18396355 - 18395976 18396355 - 19123937 100271529 ABBA01051256;AC008397;AMYH01009590;NG_010881 RPL39_19_1635 pseudo 36935 INFERRED 2304574 RPL39P39 ribosomal protein L39 pseudogene 39 20 20 20 q13.31 52643846 52643989 + 55903609 55903752 + 55903609 55903752 + 19123937 100271530 ABBA01052923;AL135939;AMYH01012008;NG_010887 RPL39_19_1716 pseudo 36514 INFERRED 2303442 RPL39P4 ribosomal protein L39 pseudogene 4 17 17 q21.1 34655664 34656062 - 37995428 37995826 - 19123937 654392 ABBA01031852;AC090844;AMYH01008376;NG_009535;NG_029104 RPL39_18_1545 pseudo 31327 INFERRED 2304573 RPL39P40 ribosomal protein L39 pseudogene 40 21 21 21 q21.1 4047764 4047883 - 18872997 18873116 - 18872997 18873116 - 19123937 100271531 ABBA01057118;AMYH01012149;AP000963;NG_010891 RPL39_21_1719 pseudo 35823 INFERRED 2304572 RPL39P41 ribosomal protein L39 pseudogene 41 22 22 22 q13.1 21412819 21412970 - 37611778 37611929 - 37611778 37611929 - 19123937 100271532 ABBA01055461;AMYH01012753;NG_010896;Z82188 RPL39_22_1750 pseudo 35941 INFERRED 2304756 RPL39P42 ribosomal protein L39 pseudogene 42 X X X q24 119378484 119378594 - 118923864 118923974 - 118923864 118923974 - 19123937 100271397 ABBA01036625;AC005052;AMYH01022886;NG_016250 RPL39_23_1806 pseudo 36204 MODEL 2305389 RPL39P6 ribosomal protein L39 pseudogene 6 1 1 p36.2 10405299 10405699 + 11292967 11293367 + 19123937 100270891 ABBA01003045;AL049653;AMYH01000253;NG_010231;NG_033239 RPL39_1_12 pseudo 35803 INFERRED 2304151 RPL39P5 ribosomal protein L39 pseudogene 5 3 3 q22.1 132496856 132497260 - 134070581 134070985 - 19123937;21145461 553117 Q59GN2 AB209077;ABBA01059156;AC010207;AMYH01013513;NG_010827 Q59GN2 Hs.611241 RPL39_7_406 pseudo 26015 INFERRED 2305388 RPL39P7 ribosomal protein L39 pseudogene 7 1 1 p36.11 24611563 24611685 + 26215478 26215600 + 19123937 100270892 ABBA01034887;AL033528;AMYH01000394;NG_010238 RPL39_2_23 pseudo 36651 INFERRED 2305387 RPL39P8 ribosomal protein L39 pseudogene 8 1 1 p13.2 111662063 111662442 - 113433214 113433593 - 19123937 100270893 ABBA01068435;AL390729;AMYH01000951;NG_010241 RPL39_2_85 pseudo 36329 INFERRED 2305386 RPL39P9 ribosomal protein L39 pseudogene 9 1 1 p21 98563046 98563198 + 100308166 100308318 + 19123937 100270894 ABBA01045448;AC096949;AMYH01000824;NG_010246 RPL39_4_77 pseudo 35580 INFERRED 1344273 RPL3P1 ribosomal protein L3 pseudogene 1 21 21 21 q22.2 22739919 22741204 - 36462989 36464453 + 37541219 37542504 - 19123937;10830953;9740676 8488 ABBA01057384;AMYH01012225;AP000689;AP001725;NG_000877 RPL3P;RPL3_8_1731 pseudo 10352 INFERRED 2305537 RPL3P10 ribosomal protein L3 pseudogene 10 8 8 8 p11.22 37966548 37967808 - 39134214 39135377 - 39015001 39016238 - 19123937 100129004 ABBA01015931;AC105091;AMYH01018657;NG_011223 RPL3_5_896 pseudo 36819 INFERRED 2305214 RPL3P11 ribosomal protein L3 pseudogene 11 9 9 9 p23 13973408 13974638 - 14030715 14031860 - 14040656 14041886 - 19123937 100131893 ABBA01065306;AL360089;AMYH01019236;NG_010281 RPL3_7_963 pseudo 35521 INFERRED 2305563 RPL3P12 ribosomal protein L3 pseudogene 12 X X X q25 122053224 122054508 + 121499784 121500994 + 121672085 121673369 + 19123937 100131358 ABBA01036245;AL513082;AMYH01022931;NG_010160 RPL3_3_1807 pseudo 36298 INFERRED 731374 RPL37 ribosomal protein L37 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 5 5 5 p13 40708083 40719154 - 40867187 40871144 - 40831430 40835387 - 6480464 7545944;15189156;14567916;15489334;15485924;12477932;11875025;11401437;9582194;8722009;7588717;17353931;20935493;21832049;22939629;12962325;21139048 6167 D6R9X9;D6RG19;P61927 AB007183;AB007184;AB055770;AB061834;ABBA01024225;AC008810;AK311827;AMYH01015049;BC067790;BC070206;BC079477;BC084576;BU954721;BX647123;CH471119;CR456890;D23661;L11567;NM_000997 AAA62148;AAH79477;AAH84576;BAA04888;BAA25842;BAA25843;BAB62864;BAB79472;BAG34769;CAG33171;EAW56002;EAW56003;EAW56004;EAW56005;NP_000988;P61927 Hs.447582;Hs.558601;Hs.731513 1665060;2128135;5022185 D5S2438;D8S1938;RP_L37_1 DKFZp686G1699;L37;MGC99572 60S ribosomal protein L37;60S ribosomal protein L37a;G1.16;OTTHUMP00000120001;OTTHUMP00000221318;OTTHUMP00000221792 APPROVED protein-coding 10347 16047 604181 REVIEWED 1352938 RPL3P2 ribosomal protein L3 pseudogene 2 6 6 6 p21.3 32846778 32848018 + 31248108 31249348 + 31248068 31249348 + 19123937;9177776 116935 ABBA01038073;AL662833;AL671883;AL845443;AMYH01016210;BX248310;BX927178;CR388229;CR759814;CR759828;D83770;NG_029347 1856368;1956354;2191741 G07414;MARC_6327-6328:996689678:1;REN49042 RPL3-Hom;RPL3_1_679 pseudo 17834 INFERRED 1345719 RPL3P4 ribosomal protein L3 pseudogene 4 14 14 14 q32.2 79494922 79495400 - 98508814 98509491 - 99439160 99439638 - 326307 ABBA01048570;AL162151;AMYH01005987;NG_002559 1806162;1819544;1951990;1951992;1951994;1951996;1951998;1952000;1952002;1952004;1952006;1952008;2191741;2212008;2212010 ECD04035;ECD10839;MARC_6327-6328:996689678:1;REN46851;REN46852;REN46853;REN46854;REN46855;REN46856;REN46857;REN46858;REN46859;REN46860;stSG631937;stSG631938 pseudo 19805 INFERRED 2303487 RPL3P3 ribosomal protein L3 pseudogene 3 14 14 14 q22.3 37494612 37495940 + 56514880 56516092 + 57445066 57446394 + 19123937 645798 ABBA01018235;AL137100;AMYH01005751;NG_009544 RPL3_2_1372 pseudo 23550 INFERRED 2305894 RPL3P5 ribosomal protein L3 pseudogene 5 2 2 2 q37.3 231029130 231030443 - 236981228 236982459 - 237316433 237317746 - 19123937 100130450 ABBA01042572;AC093915;AMYH01011596;NG_010767 RPL3_1_338 pseudo 36934 INFERRED 2305916 RPL3P6 ribosomal protein L3 pseudogene 6 5 5 q12.1 60722200 60723455 - 60686443 60687724 - 19123937 643220 ABBA01048374;AC122718;AMYH01015114;NG_010781 RPL3_2_568 pseudo 36395 INFERRED 2304632 RPL3P7 ribosomal protein L3 pseudogene 7 6 6 6 q21 109071993 109073285 - 108432182 108433485 - 108325506 108326798 - 19123937 642741 ABBA01026158;AMYH01016575;NG_010941;Z98200 1335035;1766751;1798758;1845970;1956346;1956348;1956350;1956352;1956354;1956356;1956358;1956360;1956362;1956364;1956366;1956368;2158857;2212680;2212682;2212684 D6S278;ECD00219;ECD24205;REN49036;REN49037;REN49040;REN49041;REN49042;REN49043;REN49044;REN49045;REN49046;REN49047;REN49048;REN49049;SGC33142;SHGC-152050;stSG634054;stSG634055;stSG634056 RPL3_3_732 pseudo 36797 INFERRED 2305546 RPL3P8 ribosomal protein L3 pseudogene 8 7 7 7 q31.1 104451064 104452331 - 109425727 109428365 - 109638436 109639703 - 19123937;9847074 646620 AACC02000004;ABBA01057877;AC004161;AMYH01017846;CH236947;NG_009422 1337391;1684106;1755003;1757013;1764943;2182858 AFM248tc5;D7S1853;D7S525;SHGC-141951;SHGC-144372;SHGC-148496 RPL3_4_835 pseudo 35498 INFERRED 2305567 RPL3P9 ribosomal protein L3 pseudogene 9 8 8 8 q21.13 76487539 76488795 - 80645941 80655256 - 80483330 80484586 - 19123937 100128963 ABBA01004076;AC025599;AMYH01018817;NG_011010 RPL3_6_918 pseudo 36839 INFERRED 1347635 RPL39L ribosomal protein L39-like This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008] 3 3 3 q27 185270573 185289095 - 188321435 188339957 - 186838741 186857263 - 1580863;6480464 12490704;15489334;12477932;12359333;17207965 116832 Q96EH5 AB063607;AB063610;ABBA01058377;AC007488;AF548529;AMYH01013741;BC012328;CH471052;L05096;NM_052969 AAC15859;AAH12328;AAN52397;ADQ32401;BAC19834;BAC19837;EAW78156;NP_443201;Q96EH5 Hs.647900 1792264;2177332;5019222 DXS8214;PMC140079P4;UniSTS:64548 RPL39L1 60S ribosomal protein L39-2;60S ribosomal protein L39-like;L39-2;OTTHUMP00000209938;OTTHUMP00000209939;OTTHUMP00000209940;ribosomal protein L39-like 1;ribosomal protein L39-like protein APPROVED protein-coding ENSG00000163923 17094 09610 607547 REVIEWED 1354165 RPL41P1 ribosomal protein L41 pseudogene 1 20 20 20 p11.23-p11.21 21809776 21810198 + 21683768 21684380 + 21735868 21736290 + 22971 ABBA01054109;AL035562;AMYH01011772;NG_000891 RPL41L2;dJ1065O2.1 pseudo 10356 INFERRED 1342766 RPL41P2 ribosomal protein L41 pseudogene 2 15 15 15 q11-q13 6717845 6718263 + 26234294 26234899 + 28560799 28561217 + 22970 ABBA01044286;AC004583;AC091304;AMYH01006497;NG_000890;NG_016355 pseudo 10357 INFERRED 1354262 RPL41P3 ribosomal protein L41 pseudogene 3 22 22 22 q13.1 20036924 20037362 - 34564250 34565426 + 36234322 36234760 - 22969 ABBA01055427;AL079295;AMYH01012747;NG_000889;NG_029628 pseudo 10358 INFERRED 1342751 RPL41P4 ribosomal protein L41 pseudogene 4 14 14 14 q24.3 54507008 54507436 + 73539709 73540337 + 74470056 74470484 + 9847074 326308 ABBA01030737;AC005480;AMYH01005850;NG_002560 pseudo 19788 INFERRED 1351074 RPL41P5 ribosomal protein L41 pseudogene 5 12 12 q22 93148110 93148533 - 93477069 93477492 - 8332507 6172 ABBA01053385;AC138123;AMYH01004658;NG_008264;S64030 RPL41L pseudo 10355 INFERRED 2881919 RPL41P6 ribosomal protein L41 pseudogene 6 There are two copies of this pseudogene on chromosome Y within the P1 palindrome. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y q11.23 25863195 25863737 + 27453807 27454349 + 12815422 286568 AC006386;NG_004755 APPROVED pseudo 37655 REVIEWED 2881920 RPL41P7 ribosomal protein L41 pseudogene 7 There are two copies of this pseudogene on chromosome Y within the P1 palindrome. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y q11.23 24917471 24918013 - 26508083 26508625 - 12815422 286570 AC012005;NG_004755 APPROVED pseudo 37656 REVIEWED 1317728 RPL37A ribosomal protein L37a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 2 2 2 q35 211131391 211134061 + 217071765 217074435 + 217363520 217366190 + 6480464 17353931;15189156;14567916;15489334;12962325;12477932;11401437;8722009;8224875;7821789;1437567;16169070;21145461;14702039;21182205;21832049;22939629;16196087;21139048;21890473;21906983;21628590 6168 C9J4Z3;E9PEL3;G5E9R3;M0R0A1;M0R2L6;P61513;Q6P4E4 ABBA01062816;AC073321;AK023419;AK289472;AK291857;AMYH01011489;BC000555;BC014262;BC016748;BC039030;BC047872;BC063476;BC067789;BC082239;CD249666;CH471063;CR542152;D28355;L06499;L22154;NM_000998;X66699 AAA60280;AAH00555;AAH14262;AAH16748;AAH63476;AAH67789;AAH82239;AAY15078;BAA05721;BAF82161;BAF84546;CAA47244;CAG46949;EAW70569;EAW70570;EAW70571;NP_000989;P61513 Hs.433701 2136230;2162943;2183518;5111953 D2S1289;G43322;RH36187;WI-16081 FLJ13357;L37A;MGC74786 60S ribosomal protein L37a;OTTHUMP00000164051;OTTHUMP00000207758;OTTHUMP00000207759 APPROVED protein-coding 10348 17997 613314 REVIEWED 2303466 RPL4P1 ribosomal protein L4 pseudogene 1 14 14 q11.2 2082036 2083454 + 22218496 22219917 + 19123937;11096259;10810226;9850858;9110172;8188290;6440030;3016457;2939461;2788889;2129796 650808 ABBA01061266;AE000521;AE000659;AMYH01005596;NG_001332 RPL4_2_1340 pseudo 23551 VALIDATED 2304369 RPL4P3 ribosomal protein L4 pseudogene 3 1 1 1 q24.3 144761607 144763033 - 169918825 169920235 - 171652206 171653632 - 19123937 391135 ABBA01027925;AMYH01001496;NG_011155;Z98751 RPL4_1_122 pseudo 35773 INFERRED 735612 RPL39 ribosomal protein L39 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] X X X q24 119375089 119380226 - 118804497 118809634 - 118920469 118925606 - 6480464 8764829;15189156;14567916;15489334;12477932;11875025;11401437;8908372;8722009;7821789;21890473;12962325;22863883;19123937 6170 P62891 AB046411;AB061835;ABBA01036625;AC005052;AMYH01022886;BC001019;BC070205;BX476041;CH471161;D28397;D79205;NG_016250;NM_001000;U57846 AAB02265;AAH01019;AAH70205;ABM82814;ABM86000;BAA05763;BAA11465;BAB21257;BAB79473;EAW89847;EAW89848;EAW89849;NP_000991;P62891 Hs.300141;Hs.558387 1792262;5019222;5113057 DXS8214;PMC140079P3;RH80068 L39;RPL39P42;RPL39_23_1806 60S ribosomal protein L39;OTTHUMP00000023908 APPROVED protein-coding ENSG00000198918 10350 03546 300899 REVIEWED 2304980 RPL4P4 ribosomal protein L4 pseudogene 4 3 3 3 q27.2 183581409 183582835 - 186617857 186619319 - 185135196 185136631 - 19123937 647276 ABBA01058419;AC099661;AMYH01013728;NG_010560 1744317;2138203 GDB:451670;RH65816 RPL4_2_444 pseudo 36179 INFERRED 2305541 RPL4P2 ribosomal protein L4 pseudogene 2 1 1 1 q24.1 139821713 139823138 + 164974710 164984616 + 166716560 166717986 + 19123937 646688 ABBA01047258;AL356005;AMYH01001479;NG_010174 RPL4_1_115 pseudo 36836 INFERRED 2305184 RPL4P6 ribosomal protein L4 pseudogene 6 22 22 q13.2 24786297 24787695 - 40982629 40984027 - 19123937 100271033 ABBA01055606;AMYH01012792;NG_010955;Z86090 RPL4_4_1752 pseudo 35611 INFERRED 2304377 RPL4P5 ribosomal protein L4 pseudogene 5 9 9 9 p24.1 7407382 7408807 - 7466930 7468381 - 7476951 7478376 - 19123937;16169070 158345 ABBA01065374;AL391872;AMYH01019214;NG_010714 RPL4_3_960 pseudo 35699 INFERRED 1342859 RPL5P1 ribosomal protein L5 pseudogene 1 15 15 15 q11.2 3316079 3317115 - 25154011 25155047 - 25154011 25155047 - 19123937 647436 ABBA01048688;AC090602;AMYH01006483;NG_002690 RPL5_12_1419 pseudo 10361 VALIDATED 2305844 RPL5P10 ribosomal protein L5 pseudogene 10 3 3 3 p22.1 40566770 40567768 - 40603030 40604005 - 40627977 40628975 - 19123937 645807 ABBA01024789;AC122683;AMYH01013102;NG_009583 RPL5_4_365 pseudo 36846 INFERRED 2305366 RPL5P11 ribosomal protein L5 pseudogene 11 4 4 4 q34.1 171665446 171666469 - 174576971 174577863 - 174340338 174341361 - 19123937 402193 ABBA01070376;AC093849;AMYH01014716;NG_010069 RPL5_6_536 pseudo 35483 INFERRED 2305443 RPL5P13 ribosomal protein L5 pseudogene 13 4 4 q31.21 140538724 140539432 - 143208070 143208778 - 19123937 100270834 ABBA01069992;AC093860;AMYH01014577;NG_011247 RPL5_5_523 pseudo 37023 INFERRED 2305442 RPL5P14 ribosomal protein L5 pseudogene 14 5 5 p13.3 31727558 31728545 + 31847336 31848323 + 19123937 100270835 ABBA01066724;AC010469;AMYH01014993;NG_011256 RPL5_5_550 pseudo 35924 INFERRED 2305444 RPL5P12 ribosomal protein L5 pseudogene 12 4 4 q23 96241194 96242178 + 98946491 98947475 + 19123937 100270833 ABBA01063650;AC073855;AMYH01014414;NG_011243 RPL5_4_502 pseudo 36221 INFERRED 1313682 RPL38 ribosomal protein L38 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 68786341 68792564 + 69711390 69717614 + 72199795 72206019 + 6480464 9375793;17353931;15189156;14567916;16730941;15489334;12477932;11875025;11401437;9582194;8722009;21145461;17643375;16712791;22939629;12962325;19167051;20434207;22586326;20972266;21139048;21890473;21906983;17361185;21628590;22863883;21853274;22505724 6169 J3KSP2;J3KT73;J3QL01;P63173 AB007185;AB055771;ABBA01028846;AC100786;AK312119;AMYH01008623;BC000603;BQ276548;BU532782;CB124619;CB128529;CH471099;NM_000999;NM_001035258;Z26876 AAH00603;BAA25844;BAB62865;BAG35055;CAA81488;EAW89137;EAW89138;EAW89139;EAW89140;NP_000990;NP_001030335;P63173 Hs.380953;Hs.629060 1848526;5014869;5015743 D19S983;RP_L38_1;WI-9698 L38 60S ribosomal protein L38;OTTHUMP00000231708;OTTHUMP00000231709;OTTHUMP00000231710 APPROVED protein-coding ENSG00000172809 10349 16048 604182 REVIEWED 2305441 RPL5P15 ribosomal protein L5 pseudogene 15 5 5 q13 55058763 55059500 + 58118330 58119067 + 19123937 100270836 ABBA01015790;AC008852;AMYH01015101;NG_011262 RPL5_6_566 pseudo 36769 INFERRED 2305440 RPL5P16 ribosomal protein L5 pseudogene 16 5 5 q14.2 77978654 77979450 + 82073616 82074412 + 19123937 100270837 ABBA01062077;AC008885;AMYH01015451;NG_011269 RPL5_7_588 pseudo 36009 INFERRED 2305706 RPL5P18 ribosomal protein L5 pseudogene 18 6 6 6 q22.33 128425895 128426866 + 127720110 127726241 + 127683631 127684602 + 19123937 389428 ABBA01025934;AL109939;AMYH01016655;NG_010276 RPL5_11_750 pseudo 36640 INFERRED 2305438 RPL5P17 ribosomal protein L5 pseudogene 17 5 5 q14.3 80656938 80657951 + 84760177 84761190 + 19123937 100270839 ABBA01062100;AC010486;AMYH01015462;NG_011278 RPL5_8_591 pseudo 36605 INFERRED 2305322 RPL5P19 ribosomal protein L5 pseudogene 19 6 6 q15 93144665 93145469 + 92723552 92724356 + 19123937 100270906 ABBA01040569;AL590814;AMYH01016511;NG_010305 RPL5_10_724 pseudo 36604 INFERRED 1353947 RPL5P2 ribosomal protein L5 pseudogene 2 20 20 20 q12 40827969 40828822 - 43552772 43553825 - 44119458 44120311 - 19123937 140749 ABBA01052660;AL031663;AMYH01011937;NG_000992 RPL5_14_1705;dJ461P17.5 pseudo 16568 INFERRED 2305096 RPL5P20 ribosomal protein L5 pseudogene 20 6 6 6 p22.3 20586724 20587733 + 19442239 19457285 + 19348341 19349350 + 19123937 100131913 ABBA01022243;AL357052;AMYH01016126;NG_010394 2190393 HSC235_(EPM2B-4) RPL5_9_664 pseudo 36660 INFERRED 2305439 RPL5P21 ribosomal protein L5 pseudogene 21 6 6 q22.33 130823865 130824644 - 130077478 130078257 - 19123937 100270838 ABBA01025909;AMYH01016668;NG_011273;Z97352 RPL5_7_753 pseudo 37029 INFERRED 2305437 RPL5P23 ribosomal protein L5 pseudogene 23 8 8 p12 41143929 41144903 - 42199227 42200201 - 19123937 100270840 ABBA01021153;AC083973;AMYH01018679;NG_011285 RPL5_8_899 pseudo 36553 INFERRED 2305632 RPL5P22 ribosomal protein L5 pseudogene 22 8 8 8 p21.1 27116969 27117992 + 28211773 28214002 + 28157125 28158148 + 19123937 389644 ABBA01005597;AC021678;AMYH01018604;NG_011351 1649463 D8S2029 RPL5_12_886 pseudo 35695 INFERRED 2305436 RPL5P24 ribosomal protein L5 pseudogene 24 8 8 q22.3 100122606 100123622 - 103935541 103936557 - 19123937 100270841 ABBA01037627;AMYH01018944;AP003354;NG_011288 RPL5_9_935 pseudo 35828 INFERRED 2304959 RPL5P25 ribosomal protein L5 pseudogene 25 10 10 10 p13 13025646 13026481 - 13099890 13100725 - 13099890 13100725 - 19123937 100271204 ABBA01034635;AL355355;AMYH01002040;NG_010517 RPL5_10_1021 pseudo 35493 INFERRED 2304958 RPL5P26 ribosomal protein L5 pseudogene 26 10 10 10 q22 64815557 64816563 + 71538646 71539652 + 71538646 71539652 + 19123937 100271206 ABBA01019610;AC025426;AMYH01002808;NG_010525 RPL5_13_1059 pseudo 36247 INFERRED 2304613 RPL5P27 ribosomal protein L5 pseudogene 27 10 10 10 q25.3 112238851 112240319 + 118493179 118500767 + 118509375 118510843 + 19123937 100129998 ABBA01062954;AC016825;AMYH01003095;NG_011070 RPL5_14_1100 pseudo 36172 INFERRED 2305493 RPL5P28 ribosomal protein L5 pseudogene 28 10 10 10 q26.3 128558655 128560498 + 134807066 134821862 - 134957011 134958854 - 19123937 100131535 ABBA01006204;AL445199;AMYH01003226;NG_011076 RPL5_11_1110 pseudo 36827 INFERRED 2303319 RPL5P3 ribosomal protein L5 pseudogene 3 15 15 15 q23 48246254 48247281 - 69142491 69143384 - 71355377 71356404 - 19123937 400385 ABBA01038750;AC013752;AMYH01006749;NG_009504 HsT18216;RPL5_13_1449 pseudo 31034 INFERRED 2305377 RPL5P29 ribosomal protein L5 pseudogene 29 11 11 11 q12.1 53464827 53465840 + 55878778 55882273 + 56124749 56125762 + 19123937 390158 ABBA01021463;AC022882;AC208786;AMYH01003648;NG_010050 RPL5_15_1144 pseudo 36335 INFERRED 2304630 RPL5P30 ribosomal protein L5 pseudogene 30 11 11 11 q23.3 115592126 115593147 + 118431332 118432353 + 118431332 118432353 + 19123937 645160 ABBA01039703;AMYH01004071;AP000941;NG_011357 1749757 SHGC-111513 RPL5_16_1181 pseudo 35837 INFERRED 2305712 RPL5P33 ribosomal protein L5 pseudogene 33 17 17 17 q21.33 45386612 45388331 + 46280445 46286428 + 48925295 48927014 + 19123937 100130929 ABBA01041248;AC091062;AMYH01008478;NG_010584 RPL5_18_1557 pseudo 36703 INFERRED 2305891 RPL5P34 ribosomal protein L5 pseudogene 34 22 22 22 q13.2 27082881 27083906 - 41502280 41503302 - 43172351 43173376 - 19123937 388907 ABBA01017925;AL049757;AMYH01012823;NG_010237 RPL5_15_1754 pseudo 36463 INFERRED 5133088 RPL5P31 ribosomal protein L5 pseudogene 31 13 13 13 q14.3 32784983 32785640 - 50633839 50634494 - 51735831 51736488 - 341674 ABBA01051045;AL157817;AMYH01005115;NG_009871 pseudo 42036 INFERRED 2305881 RPL5P4 ribosomal protein L5 pseudogene 4 1 1 1 p34.3 34090229 34091247 + 35588910 35589795 + 35816249 35817267 + 19123937 643343 ABBA01023343;AL356362;AMYH01000490;NG_009571 RPL5_1_31 pseudo 36095 VALIDATED 2304973 RPL5P35 ribosomal protein L5 pseudogene 35 22 22 22 q13.33 34072909 34074403 - 48537275 48544007 - 50151207 50152701 - 19123937 100129647 ABBA01031330;AL023802;AMYH01012885;NG_010574;Z98885 1644724;1670378 AL021677;WI-14811 RPL5_16_1760 pseudo 36967 INFERRED 2304957 RPL5P32 ribosomal protein L5 pseudogene 32 15 15 15 q13.1 6300643 6301623 + 28140806 28141786 + 28140806 28141786 + 19123937 100271207 ABBA01044302;AC079090;AMYH01006496;NG_010532 1764375 SHGC-147969 RPL5_17_1422 pseudo 36973 INFERRED 2305678 RPL5P5 ribosomal protein L5 pseudogene 5 1 1 1 q25.3 158306575 158307604 - 183462546 183463508 - 185195879 185196904 - 19123937 730213 ABBA01027720;AL356273;AMYH01001561;NG_009600 RPL5_1_139 pseudo 35564 INFERRED 2305507 RPL5P6 ribosomal protein L5 pseudogene 6 1 1 1 p22.2 89737592 89738584 + 91261993 91262968 + 91489432 91490424 + 19123937 646784 ABBA01045569;AL136109;AMYH01000786;NG_010665;NG_029760 RPL5_2_71 pseudo 35890 INFERRED 2305597 RPL5P7 ribosomal protein L5 pseudogene 7 2 2 q31.1 168349729 168350724 - 174736300 174737295 - 19123937 344178 ABBA01062177;AC106900;AMYH01011275;CH471058;NG_010588 EAX11157 RPL5_2_294 pseudo 36583 INFERRED 2305867 RPL5P8 ribosomal protein L5 pseudogene 8 2 2 2 q34 208913324 208914259 - 214853604 214854421 - 215145313 215146248 - 19123937 100130523 ABBA01062779;AC008279;AMYH01011482;NG_011133 RPL5_3_323 pseudo 36290 INFERRED 2305445 RPL5P9 ribosomal protein L5 pseudogene 9 2 2 q13 105375958 105376962 + 111725353 111726357 + 19123937 100270832 ABBA01001561;AC096591;AMYH01010925;NG_011239 RPL5_3_263 pseudo 36557 INFERRED 2305364 RPL6P1 ribosomal protein L6 pseudogene 1 1 1 1 p34.1 44522267 44539176 + 46006551 46024119 + 46233964 46251532 + 19123937;19615732 440587 ABBA01050853;AL603882;AMYH01000579;NG_010027 RPL6_1_44 pseudo 35972 INFERRED 2304503 RPL6P10 ribosomal protein L6 pseudogene 10 4 4 4 q13.1 63898520 63899332 + 66121756 66122725 + 66439158 66440089 + 19123937 642828 ABBA01022878;AC115223;AMYH01014240;NG_010033 RPL6_9_488 pseudo 36575 INFERRED 2305321 RPL6P12 ribosomal protein L6 pseudogene 12 4 4 q32.3-q33 167418850 167419746 + 170087405 170088297 + 19123937 100270907 ABBA01070337;AC096741;AMYH01014699;NG_010311 RPL6_11_535 pseudo 35681 INFERRED 2305655 RPL6P13 ribosomal protein L6 pseudogene 13 4 4 4 q21.3 85080765 85082033 + 88010368 88017944 + 87791318 87792586 + 19123937 643974 ABBA01063513;AC093827;AMYH01014371;NG_010698 RPL6_10_498 pseudo 36399 INFERRED 2305765 RPL6P14 ribosomal protein L6 pseudogene 14 4 4 4 q24 103106557 103107402 - 106026716 106027561 - 105807267 105808112 - 19123937 391679 ABBA01063729;AC105918;AMYH01014438;NG_011328 RPL6_2_505 pseudo 35661 INFERRED 2305435 RPL6P15 ribosomal protein L6 pseudogene 15 5 5 q31.1 128636512 128637336 - 132507910 132508734 - 19123937 100270843 ABBA01068780;AC010307;AMYH01015618;NG_011297 RPL6_3_613 pseudo 36903 INFERRED 2305502 RPL6P16 ribosomal protein L6 pseudogene 16 4 4 4 q35.1 182504525 182505311 + 185413244 185413414 + 185175688 185176474 + 19123937 728365 ABBA01070512;AC079080;AMYH01014766;NG_011360 RPL6_12_538 pseudo 35674 INFERRED 2305602 RPL6P17 ribosomal protein L6 pseudogene 17 6 6 6 p23 16342666 16343932 - 15211156 15212421 - 15103177 15104442 - 19123937 100131229 ABBA01022155;AL050335;AMYH01016103;NG_010828 RPL6_4_660 pseudo 36914 INFERRED 2305218 RPL6P18 ribosomal protein L6 pseudogene 18 6 6 6 p22.3 24336555 24337473 + 23210886 23211752 + 23102887 23103805 + 19123937 100131805 ABBA01022308;AL591416;AMYH01016146;NG_011144 RPL6_13_667 pseudo 36911 INFERRED 2305615 RPL6P19 ribosomal protein L6 pseudogene 19 7 7 7 q33 132143832 132146744 + 137054996 137058211 + 137404799 137407632 + 19123937 646483 AACC02000025;ABBA01001150;AC009245;AMYH01017965;CH236950;NG_010443 RPL6_14_853 pseudo 36754 INFERRED 2305854 RPL6P2 ribosomal protein L6 pseudogene 2 1 1 1 p12 117992758 117993582 - 119563041 119564239 - 119761916 119762740 - 19123937 343495 ABBA01068512;AL359915;AMYH01000976;NG_011031 RPL6_1_93 pseudo 35964 INFERRED 2305823 RPL6P20 ribosomal protein L6 pseudogene 20 7 7 7 q11.21 57320976 57321903 - 63239350 63240213 - 63601871 63602798 - 19123937 285900 ABBA01027973;AC091685;AMYH01017427;NG_006618 RPL6_6_811 pseudo 36543 INFERRED 2305432 RPL6P21 ribosomal protein L6 pseudogene 21 7 7 7 p21.2 14089256 14090149 - 14110131 14111024 - 14110131 14111024 - 19123937 100270846 AACC02000009;ABBA01056598;AC004909;AMYH01017080;CH236948;NG_011317 RPL6_5_786 pseudo 35994 INFERRED 1314865 RPL3L ribosomal protein L3-like This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2206784 2216862 - 1934581 1944680 - 1994580 2004679 - 1580863;6480464 8921388;15189156;14567916;15489334;12477932;11157797;8828041;19615732;21048031;21832049;22939629;12962325;21906983 6123 H3BQN3;Q92901 ABBA01030286;AC005363;AE006640;AK313162;AMYH01007045;AMYH01007046;BC050413;CH471112;NM_005061;U65581 AAC50777;AAH50413;AAK61301;BAG35980;EAW85599;NP_005052;Q92901 Hs.657266 1682343;2132575 D16S3395;RH93499 60S ribosomal protein L3-like;OTTHUMP00000158867 APPROVED protein-coding 10351 17998 REVIEWED 2304509 RPL6P22 ribosomal protein L6 pseudogene 22 8 8 8 p12 32666646 32667546 - 33836440 33837283 - 33716866 33717766 - 19123937 388460 ABBA01023600;AF279873;AMYH01018634;NG_010561 RPL6_7_890 pseudo 36220 INFERRED 2305183 RPL6P24 ribosomal protein L6 pseudogene 24 10 10 p13 13560540 13561465 - 13633425 13634350 - 19123937 100271034 ABBA01034625;AL157392;AMYH01002045;NG_010958 RPL6_8_1023 pseudo 36343 INFERRED 2305182 RPL6P26 ribosomal protein L6 pseudogene 26 17 17 q21.31 39507604 39508482 - 42797105 42797983 - 19123937 100271035 ABBA01028352;AC091152;AMYH01008426;NG_010962 2180872 D17S1188 RPL6_9_1550 pseudo 36152 INFERRED 2305595 RPL6P25 ribosomal protein L6 pseudogene 25 12 12 12 q21.31 83212445 83213364 + 82069241 82070100 + 83545090 83546011 + 19123937;23251661 401725 ABBA01053458;AC090680;AMYH01004626;NG_010323 RPL6_15_1263 pseudo 36840 INFERRED 2304414 RPL6P27 ribosomal protein L6 pseudogene 27 18 18 18 p11.31 6347412 6348349 - 6452075 6453030 - 6462091 6463028 - 19123937 645387 ABBA01049895;AMYH01008789;AP005202;NG_009652 RPL6_10_1582 pseudo 36133 INFERRED 2304956 RPL6P28 ribosomal protein L6 pseudogene 28 22 22 22 q13.31 29209382 29210261 + 45297451 45298330 + 45297451 45298330 + 19123937 100271208 ABBA01017850;AMYH01012843;NG_010536;Z83838 RPL6_16_1757 pseudo 36065 INFERRED 2305374 RPL6P29 ribosomal protein L6 pseudogene 29 X X X q21.33 98026546 98027460 + 97393335 97394197 + 97506660 97507574 + 19123937 392505 ABBA01064395;AL355805;AMYH01022706;NG_010304 RPL6_17_1796 pseudo 36382 INFERRED 2304363 RPL6P3 ribosomal protein L6 pseudogene 3 1 1 1 q43 215250773 215251691 + 240050821 240062712 + 241995211 241996129 + 19123937 391181 ABBA01033259;AL365366;AMYH01001875;NG_010044 FLJ16613;RPL6_2_187 pseudo 35925 INFERRED 2305857 RPL6P30 ribosomal protein L6 pseudogene 30 X X X p22.2 20335513 20336421 - 16126472 16127335 - 16216525 16217433 - 19123937 139452 ABBA01071392;AC078993;AMYH01022110;NG_010970 7184880 DXS43 RPL6_11_1767 pseudo 36171 INFERRED 736920 RPL41 ribosomal protein L41 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 12 12 12 q13 56162519 56163761 + 54796641 54797883 + 56510374 56511616 + 6480464 1326959;15189156;14567916;15489334;12477932;11780052;11710515;11401437;9891856;9582194;9299532;8722009;7821789;18482256;20234822;20098747;21706477;21832049;12962325;18624398;21779181 6171 P62945;Q76N52 AB007186;AB010874;ABBA01008405;AC034102;AF026844;AMYH01004500;BC014383;BC015984;BC017820;BC032611;BC062462;BC064907;BC066328;BC070252;BC070253;BC070254;BC070255;BC070483;BC082759;BC102007;BC102008;BC102009;BC105279;BC105286;BC105296;BC105794;BC105795;BC105799;BC142666;BC142726;BF673574;CH471054;D28462;NM_001035267;NM_021104;Z12962 AAB82715;AAI56366;AAI57113;BAA05828;BAA28285;BAA31508;CAA78306;EAW96886;EAW96887;NP_001030344;NP_066927;P62945 Hs.112553;Hs.157160;Hs.356799;Hs.485899;Hs.632703;Hs.658436;Hs.660053 1771706;2128149;2137395;5124807;5493487 D12S1978;RH46352;RP_L41_1;SHGC-12709;UniSTS:486805 L41 60S ribosomal protein L41;HG12 protein;OTTHUMP00000243145;OTTHUMP00000243146;homologue of yeast ribosomal protein YL41 APPROVED protein-coding ENSG00000229117 10354 17999 613315 REVIEWED 2304741 RPL6P4 ribosomal protein L6 pseudogene 4 2 2 2 p25.1 11157411 11158314 + 11159719 11160574 + 11242249 11243152 + 19123937 645054 ABBA01015639;AC062028;AMYH01010110;NG_010981 RPL6_3_194 pseudo 36344 INFERRED 2305434 RPL6P5 ribosomal protein L6 pseudogene 5 2 2 q22.3 139807677 139808507 + 146094801 146095631 + 19123937 100270844 ABBA01028043;AC064865;AMYH01011150;NG_011303 RPL6_4_280 pseudo 36199 INFERRED 2305433 RPL6P6 ribosomal protein L6 pseudogene 6 2 2 q34 204720947 204721785 + 210952950 210953788 + 19123937 100270845 ABBA01062734;AC006994;AMYH01011462;NG_011311 RPL6_5_321 pseudo 36673 INFERRED 2305430 RPL6P7 ribosomal protein L6 pseudogene 7 3 3 q25.31 153795955 153796856 + 155375532 155376433 + 19123937 100270848 ABBA01058859;AC132006;AMYH01013595;NG_009953 RPL6_7_423 pseudo 35801 INFERRED 2305777 RPL6P8 ribosomal protein L6 pseudogene 8 3 3 3 q25.33 158719069 158725589 + 161779749 161786269 + 160297055 160303575 + 19123937 100133100 ABBA01058795;AC078868;AMYH01013616;NG_011224 RPL6_8_430 pseudo 37044 INFERRED 1343812 RPL7AL1 ribosomal protein L7A-like 1, G1-phase expressed 8123253 6131 10365 2305431 RPL6P9 ribosomal protein L6 pseudogene 9 3 3 q23 140723580 140724269 + 142300131 142300820 + 19123937 100270847 ABBA01059023;AC134509;AMYH01013547;NG_011322 RPL6_6_412 pseudo 36484 INFERRED 2303838 RPL7AP11 ribosomal protein L7a pseudogene 11 3 3 3 q13.33 119622725 119623601 + 122695625 122696516 + 121212934 121213810 + 6480464 19123937 728992 ABBA01016485;AC079841;AMYH01013425;NG_009397 RPL7A_5_397 pseudo 35242 INFERRED 1346415 RPL7AP12 ribosomal protein L7a pseudogene 12 20 20 20 p13 4641303 4641689 - 4519539 4520046 - 4571581 4571967 - 19123937 128668 ABBA01053856;AL121916;AMYH01011685;NG_000969 RPL7AL2;dJ189G13.1 pseudo 16562 INFERRED 1606440 RPL7AP10 ribosomal protein L7a pseudogene 10 19 19 p12 21167356 21168225 - 21332392 21333261 - 6480464 8482538;19123937 161406 ABBA01051369;AC010620;AJ224082;AMYH01009630;NG_001317 RPL7AP3;RPL7AP68;RPL7A_31_1637;rpL7a pseudo 32433 INFERRED 1353108 RPL7AP13 ribosomal protein L7a pseudogene 13 20 20 20 p12.1 16739764 16740112 + 16612665 16613149 + 16664702 16665050 + 128748 ABBA01054016;AL135938;AMYH01011736;NG_000974 RPL7AL3;dJ348M17.1 pseudo 16565 INFERRED 1343860 RPL7AP14 ribosomal protein L7a pseudogene 14 20 20 20 q11.2 32780342 32781224 - 35506449 35507424 - 36073076 36073958 - 19123937 140756 ABBA01006620;AL133293;AMYH01011897;NG_000999 RPL7AL4;RPL7A_32_1700;dJ823N20.2 pseudo 16590 INFERRED 2305385 RPL7AP15 ribosomal protein L7a pseudogene 15 1 1 q12 122288872 122289742 - 146695125 146695995 + 19123937 100270895 ABBA01004398;AC242426;AL356378;AMYH01001373;NG_010250 RPL7A_1_95 pseudo 36873 INFERRED 2305384 RPL7AP16 ribosomal protein L7a pseudogene 16 1 1 p34.1 44400632 44401504 - 46116650 46117522 - 19123937 100270896 ABBA01050862;AL604028;AMYH01000575;NG_010253 RPL7A_2_43 pseudo 35898 INFERRED 2305383 RPL7AP17 ribosomal protein L7a pseudogene 17 1 1 p21.2 99313297 99314153 - 101052160 101053016 - 19123937 100270897 ABBA01045438;AC099670;AMYH01000826;NG_010257 RPL7A_3_78 pseudo 36501 INFERRED 2304417 RPL7AP18 ribosomal protein L7a pseudogene 18 1 1 1 p36.23 7224305 7225611 - 8039887 8041113 - 8117241 8118547 - 19123937 390993 ABBA01035502;ABBA01035503;AL034417;AMYH01000225;NG_009561 1298303 D1S1612 FLJ26758;RPL7A_1_5 pseudo 35613 INFERRED 2303344 RPL7AP2 ribosomal protein L7a pseudogene 2 14 14 q21.1 19490934 19491728 + 39626326 39627120 + 19123937 652978 ABBA01061549;AL109628;AL132639;AMYH01005682;NG_009399 RPL7A_26_1357 pseudo 23552 INFERRED 2305181 RPL7AP19 ribosomal protein L7a pseudogene 19 1 1 q23 141621782 141622408 + 168511969 168512595 + 19123937 100271036 ABBA01047231;AL031736;AMYH01001488;NG_010967 1680525 RH91674 RPL7A_2_119 pseudo 36820 INFERRED 2305179 RPL7AP21 ribosomal protein L7a pseudogene 21 1 1 q23 141657634 141658496 - 168547839 168548701 - 19123937 100271038 ABBA01047231;AL031736;AMYH01001488;NG_010978 1680525 RH91674 RPL7A_4_120 pseudo 37020 INFERRED 2305180 RPL7AP20 ribosomal protein L7a pseudogene 20 1 1 q32.1 179953680 179954552 + 206702226 206703098 + 19123937 100271037 ABBA01010191;AC244034;AL354681;AMYH01001676;NG_010971;NG_029062 RPL7A_3_155 pseudo 36358 INFERRED 2305178 RPL7AP22 ribosomal protein L7a pseudogene 22 2 2 q24.1 153021686 153022556 + 159404916 159405786 + 19123937 100271039 ABBA01004853;AC005042;AMYH01011203;NG_010986 RPL7A_4_289 pseudo 36592 INFERRED 2305177 RPL7AP23 ribosomal protein L7a pseudogene 23 3 3 p12.2 83110881 83111479 - 82368367 82368965 - 19123937 100271040 ABBA01031059;AC018449;AMYH01013306;NG_010992 RPL7A_5_385 pseudo 36884 INFERRED 2305176 RPL7AP24 ribosomal protein L7a pseudogene 24 3 3 q24 153898777 153899438 + 155478351 155479012 + 19123937 100271041 ABBA01058855;AC104472;AMYH01013595;NG_010997 RPL7A_6_424 pseudo 36588 INFERRED 2305175 RPL7AP25 ribosomal protein L7a pseudogene 25 3 3 q26.33 179656430 179657324 - 181222797 181223691 - 19123937 100271042 ABBA01058506;AC022294;AMYH01013697;NG_011001 RPL7A_6_441 pseudo 36714 INFERRED 2305574 RPL7AP26 ribosomal protein L7a pseudogene 26 4 4 4 q21.22 80702896 80703788 - 83631000 83631890 - 83411916 83412808 - 19123937 728128 ABBA01063436;AC067942;AMYH01014353;NG_010339 RPL7A_8_496 pseudo 36815 INFERRED 2304955 RPL7AP28 ribosomal protein L7a pseudogene 28 4 4 4 q28.3 130118489 130119056 - 132778495 132779062 - 132778495 132779062 - 19123937 100271209 ABBA01044855;AC104821;AMYH01014537;NG_010540 RPL7A_10_519 pseudo 35656 INFERRED 2305174 RPL7AP29 ribosomal protein L7a pseudogene 29 4 4 p16.2 3236802 3237658 - 3325653 3326509 - 19123937 100271043 ABBA01029473;AL645949;AMYH01013889;NG_011005;NG_029903 1337448;1683375 D4S3034;RH92254 RPL7A_7_455 pseudo 36394 INFERRED 2306327 RPL7AP3 ribosomal protein L7a pseudogene 3 14 14 q13.2 15568148 15568686 - 35704321 35704859 - 654370 ABBA01061499;AL121594;AMYH01005666;NG_009375 pseudo 23553 INFERRED 2305233 RPL7AP27 ribosomal protein L7a pseudogene 27 4 4 4 q35.2 186579244 186579973 - 189507549 189508172 - 189270472 189271201 - 6480464 19123937;21145461;21963094;21987572;21628590;23251661 152663 ABBA01070593;AC093789;AMYH01014790;NG_010457 RPL7A_11_540 pseudo 36806 INFERRED 2304747 RPL7AP30 ribosomal protein L7a pseudogene 30 4 4 4 q25 111000890 111001766 - 113928620 113929512 - 113709180 113710056 - 6480464 19123937 441034 ABBA01063822;AC017007;AMYH01014470;NG_011047 RPL7A_9_511 pseudo 35757 INFERRED 2305503 RPL7AP31 ribosomal protein L7a pseudogene 31 4 4 4 q12 54728640 54729516 + 56917058 56917854 + 57222279 57223155 + 19123937 728315 ABBA01003424;AC068620;AMYH01014194;NG_011300 RPL7A_7_480 pseudo 36857 INFERRED 2305698 RPL7AP33 ribosomal protein L7a pseudogene 33 5 5 5 q35.1 168686205 168686793 - 172585445 172591229 - 172652839 172653427 - 19123937 391850 ABBA01044025;AC008412;AMYH01015823;NG_011377 1678951 RH80828 RPL7A_12_639 pseudo 36679 INFERRED 732803 RPL4 ribosomal protein L4 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 15 15 q22 64578707 64584238 - 66791653 66797193 - 1580863;6480464 8268230;14667819;17220478;15189156;14567916;15635413;15489334;14743216;12477932;11875025;11823430;11790298;11401437;10964612;9582194;8722009;8125298;21145461;7575549;18809582;19710015;18029348;16055720;19394292;20705598;16712791;21182205;15064750;20462248;23084401;20604807;21163940;22939629;12962325;16196087;12777385;18781797;19287380;21081666;21139048;21726808;21890473;21906983;21963094;21987572;21110914;17361185;21628590;17620599;22586326;22718819;18729074;22505724;22952844 6124 H3BM89;H3BTP7;H3BU31;P36578 AB007167;AB061820;AB208977;ABBA01038819;AC116913;AK125772;AK130784;AK223057;AK291117;AK291859;AK294113;AK297484;AMYH01006723;BC001365;BC005817;BC007748;BC007996;BC009888;BC010151;BC014653;BC018840;BC030000;BC040610;BC066925;BC095427;CA417911;CB149679;CH471082;D23660;L20868;NM_000968 AAA60281;AAH01365;AAH05817;AAH07748;AAH07996;AAH09888;AAH10151;AAH14653;AAH66925;AAH95427;ABM83115;ABM86309;BAA04887;BAB79458;BAD92214;BAD96777;BAF83806;BAF84548;BAG57447;BAG59904;EAW77773;EAW77774;EAW77775;EAW77776;NP_000959;P36578 Hs.186350;Hs.644628 1744317;2138203;2155777;2155779;5016660;5016779;5024471;5124870 D14S106E;D15S1201;GDB:451670;RH65253;RH65816;RH68287;RP_L4_2;SHGC-18 L4 60S ribosomal protein L1;60S ribosomal protein L4;OTTHUMP00000164249 APPROVED protein-coding 10353 01607 180479 REVIEWED 2304635 RPL7AP34 ribosomal protein L7a pseudogene 34 6 6 6 q12 62419109 62419966 - 64316498 64322986 - 64258555 64259412 - 19123937 441154 ABBA01023960;AL135905;AMYH01016387;NG_010352 RPL7A_14_708 pseudo 36778 INFERRED 2304954 RPL7AP35 ribosomal protein L7a pseudogene 35 6 6 6 q21 106368150 106368955 + 105746016 105746821 + 105746016 105746821 + 19123937 100271210 ABBA01014392;AL133406;AMYH01016559;NG_010549 RPL7A_10_727 pseudo 36113 INFERRED 2304876 RPL7AP32 ribosomal protein L7a pseudogene 32 5 5 5 q14.1 74724930 74725800 + 78860881 78861672 + 78825104 78825974 + 19123937 133748 ABBA01062018;AC093270;AMYH01015437;NG_010602 RPL7A_8_583 pseudo 36415 INFERRED 2305571 RPL7AP36 ribosomal protein L7a pseudogene 36 6 6 6 p24.3 11347157 11348034 + 10226671 10227534 + 10118667 10119544 + 6480464 19123937 728179 ABBA01022073;AL136226;AMYH01016076;NG_010595 RPL7A_9_655 pseudo 36356 INFERRED 2304500 RPL7AP37 ribosomal protein L7a pseudogene 37 6 6 6 q23.3 137961909 137962769 - 137263064 137264360 - 137221458 137222318 - 19123937 645257 ABBA01025823;AL365223;AMYH01016699;NG_010716 1670172;1797986 PEX7_2618;RH70703 RPL7A_15_759 pseudo 36507 INFERRED 2305549 RPL7AP38 ribosomal protein L7a pseudogene 38 7 7 7 p15.2 26950602 26951464 + 26923860 26929056 + 26961723 26962585 + 19123937;9847074 442660 AACC02000007;ABBA01056753;AC073472;AMYH01017130;CH236948;NG_009419 1801710;1801820;1802958;1812750;1830670;2056920;2056922;2056924;2056926;2056928;2056930;2056932;2056934;2056936;2056938;2056940;2056942;2056944;2056946;2056948;2056950;2056952;2056954;2056956;2056958;2056960;2056962;2056964;2056966;2056968;2191896;2191898;2191900;2191902;5038298 ECD01735;ECD01791;ECD02369;ECD07386;ECD16471;REN99625;REN99626;REN99627;REN99628;REN99629;REN99630;REN99631;REN99632;REN99633;REN99634;REN99635;REN99636;REN99637;REN99638;REN99639;REN99640;REN99641;REN99642;REN99643;REN99644;REN99645;REN99646;REN99647;REN99648;REN99649;REN99650;stSG609193;stSG609194;stSG609195;stSG609196 RPL7A_11_798 pseudo 36161 INFERRED 2303343 RPL7AP4 ribosomal protein L7a pseudogene 4 14 14 q22.3 36059408 36060263 + 56010094 56010949 + 19123937 652985 ABBA01018212;AL138499;AMYH01005748;NG_009400 2159631 G19269 RPL7A_27_1369 pseudo 23554 INFERRED 2305616 RPL7AP39 ribosomal protein L7a pseudogene 39 7 7 q22.1 102182828 102183622 + 102395577 102396436 + 19123937 646476 AC006477;AC105052;AMYH01017810;NG_010410 RPL7A_12_828 pseudo 35881 INFERRED 2305518 RPL7AP40 ribosomal protein L7a pseudogene 40 7 7 7 q21.3 91524066 91524714 - 96668268 96668696 - 96830134 96830782 - 19123937 442712 AACC02000013;ABBA01045754;AC073900;AMYH01017706;CH236949;NG_009431 RPL7A_18_822 pseudo 35883 INFERRED 731697 RPL5 ribosomal protein L5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 1 1 p22.1 93070182 93080069 + 93297594 93307481 + 1580863;6480464;6484113;7240710 9465063;12054647;16648475;7772601;18697920;15189156;14567916;19506219;19375175;19191325;19061985;18560357;17660530;17242401;17116689;16710414;15635413;15469983;15308643;15231747;14743126;14702039;14667819;14612427;12962325;12477932;11875025;11824785;11790298;11751223;11710515;11410658;10766838;10491318;9738462;9687515;9582194;9042965;8806611;8722009;8626719;8125298;8049265;7937132;7935455;7649987;3279045;1712897;17681147;18426907;11447110;20554519;10094392;17373842;18650830;18809582;19525955;19710015;19773262;19834503;20087403;20368992;20378560;15314173;23263491;20562864;21182205;22939629;23169665;16196087;20434207;21097889;22145905;16263121;17110929;19738201;21399665;21963094;22113938;22623428;23000965;23246001;23438482;23455922;23463506;12777385;12938929;18274552;18781797;21045808;21081666;21139048;21890473;21900206;21906983;21925390;21987572;22178446;21110914;22262766;15314174;17361185;21846774;22234250;22779921;22586326;20301769;20881960;21145461;20547751;23398456;23478443;22053931;22505724;22944692 6125 A2RUM7;P46777;Q5T7N0;R4GNJ2 AB055762;AB061848;AB208980;ABBA01045531;AF113210;AK092963;AK095815;AK222604;AK314720;AL162740;AMYH01000800;BC001882;BC012937;BC109370;BC132970;BC132972;BG756697;BU941919;CH471097;NG_011779;NG_033051;NM_000969;U14966;U76609 AAA85654;AAB18361;AAG39281;AAH01882;AAI09371;AAI32971;AAI32973;BAB62856;BAB79486;BAD92217;BAD96324;BAG37264;BAG53138;EAW73087;EAW73088;EAW73089;NP_000960;P46777 Hs.532359 1707184;1853666;1857859;5096281 Cda18a05;DXYS124Y;RH66440;SHGC-79177 DBA6;L5;MGC117339;MSTP030 60S ribosomal protein L5;OTTHUMP00000012584 APPROVED protein-coding ENSG00000122406 10360 04699 603634;612561 REVIEWED 2304949 RPL7AP42 ribosomal protein L7a pseudogene 42 7 7 7 q31.1 106423528 106424389 - 111611219 111612080 - 111611219 111612080 - 19123937 100271215 AACC02000002;ABBA01057850;AC003080;AMYH01017861;CH236947;NG_010571;NG_028060 1653583 GDB:3754623 RPL7A_19_836 pseudo 36716 INFERRED 2305547 RPL7AP43 ribosomal protein L7a pseudogene 43 7 7 q11.23 76582652 76584462 - 76744671 76745525 - 19123937 644236 ABBA01057997;AC007000;AMYH01017623;NG_010732 RPL7A_17_815 pseudo 35775 INFERRED 2304951 RPL7AP41 ribosomal protein L7a pseudogene 41 7 7 7 p15.2 25241238 25242059 - 25251783 25252604 - 25251783 25252604 - 19123937 100271213 AACC02000007;ABBA01056732;AC004129;AMYH01017122;CH236948;NG_010563 RPL7A_16_795 pseudo 36403 INFERRED 2304379 RPL7AP45 ribosomal protein L7a pseudogene 45 9 9 p11.2 45448043 45455120 + 45558047 45565124 + 19123937 100132678 ABBA01010782;AL354718;NG_010378 RPL7A_15_979 pseudo 35935 INFERRED 2304395 RPL7AP46 ribosomal protein L7a pseudogene 46 9 9 9 q13 189003261 189010325 + 67665241 67672303 - 68175421 68182483 - 19123937 441440 AL591438;AMYH01021214;CH878332;NG_010499 EAW50448 RPL7A_20_981 pseudo 35698 INFERRED 2304755 RPL7AP44 ribosomal protein L7a pseudogene 44 9 9 9 q31.2 80245250 80246086 - 109741021 109741857 - 109741021 109741857 - 19123937 100271398 ABBA01042801;AL512593;AMYH01021610;NG_011356 RPL7A_21_1001 pseudo 36645 INFERRED 2304953 RPL7AP47 ribosomal protein L7a pseudogene 47 9 9 9 p23 14137772 14138648 + 14204217 14205093 + 14204217 14205093 + 19123937 100271211 ABBA01065304;AL441963;AMYH01019236;NG_010554 RPL7A_13_964 pseudo 36833 INFERRED 2304950 RPL7AP49 ribosomal protein L7a pseudogene 49 9 9 p12 42128839 42129412 + 42128839 42129412 + 19123937 100271214 AL772307;AMYH01020636;NG_011370 RPL7A_16_980 pseudo 35507 INFERRED 2304952 RPL7AP48 ribosomal protein L7a pseudogene 48 9 9 9 p22 20471061 20471933 + 20532524 20533396 + 20532524 20533396 + 19123937 100271212 ABBA01065185;AL163193;AMYH01019273;NG_010558 RPL7A_14_968 pseudo 35953 INFERRED 2305487 RPL7AP50 ribosomal protein L7a pseudogene 50 10 10 10 q21.3 58931467 58932347 - 65332210 65333011 - 65662145 65663025 - 19123937;8482538 87688 ABBA01019511;AC044782;AJ224080;AMYH01002781;NG_003062 RPL7A_23_1048 pseudo 36117 INFERRED 1349617 RPL7AP5 ribosomal protein L7a pseudogene 5 14 14 14 q24.1 48863729 48864609 - 67875039 67876119 - 68805386 68806266 - 19123937 326309 ABBA01023695;AL122013;AMYH01005819;NG_002561;NG_023267 RPL7A_26_1382 pseudo 19781 INFERRED 2304570 RPL7AP52 ribosomal protein L7a pseudogene 52 10 10 10 q24.1-q24.3 90382452 90383237 + 96642321 96643106 + 96642321 96643106 + 19123937 100271534 ABBA01021845;AL133513;AMYH01002966;NG_010903 RPL7A_18_1082 pseudo 36233 INFERRED 2304571 RPL7AP51 ribosomal protein L7a pseudogene 51 10 10 10 q22.2 62369132 62369897 + 69093881 69094646 + 69093881 69094646 + 19123937 100271533 ABBA01019543;AC022029;AMYH01002791;NG_010899 RPL7A_17_1050 pseudo 36826 INFERRED 2305230 RPL7AP54 ribosomal protein L7a pseudogene 54 11 11 11 q14.1 79978188 79979068 + 82346113 82346912 + 82668435 82669315 + 19123937 390228 ABBA01017369;AMYH01003839;AP000893;NG_010447 RPL7A_22_1161 pseudo 36264 INFERRED 2305629 RPL7AP53 ribosomal protein L7a pseudogene 53 10 10 10 p11.22 33111827 33112704 - 33386536 33387343 - 33346483 33347360 - 19123937 401640 ABBA01033376;AL133333;AMYH01002224;NG_011194 RPL7A_22_1031 pseudo 36392 INFERRED 2304569 RPL7AP55 ribosomal protein L7a pseudogene 55 11 11 11 p15.4 7920744 7921536 + 7805221 7806013 + 7805221 7806013 + 19123937 100271535 ABBA01028682;AC044810;AMYH01003371;NG_010910 2056960 REN99645 RPL7A_19_1118 pseudo 36314 INFERRED 2305842 RPL7AP58 ribosomal protein L7a pseudogene 58 11 11 11 p14.1 29893455 29894338 + 29703887 29704688 + 29747285 29748168 + 19123937 645846 ABBA01060943;AL135933;AMYH01003466;NG_011385 RPL7A_20_1131 pseudo 36586 INFERRED 2304568 RPL7AP56 ribosomal protein L7a pseudogene 56 11 11 11 p12 37899137 37899982 + 37747195 37748040 + 37747195 37748040 + 19123937 100271536 ABBA01060835;AC061997;AMYH01003504;NG_010915 RPL7A_21_1137 pseudo 35585 INFERRED 1352270 RPL7AP6 ribosomal protein L7a pseudogene 6 14 14 14 q24.2 50416096 50416976 - 69421652 69422732 - 70351999 70352879 - 19123937 326310 ABBA01030825;AL157789;AMYH01005826;NG_002562;NG_028217 RPL7A_27_1386 pseudo 19785 INFERRED 2305918 RPL7AP59 ribosomal protein L7a pseudogene 59 12 q21.2 75517582 75537668 + 19123937 441642 AC107032;CH471054;NG_010228;XM_001714198;XM_001724644;XM_001726036 EAW97328;XP_001714250;XP_001724696;XP_001726088 RPL7A_24_1258 pseudo 35637 2304565 RPL7AP61 ribosomal protein L7a pseudogene 61 13 13 13 q32.2 79401288 79401889 + 98553906 98554507 + 98553906 98554507 + 19123937 100271539 ABBA01027158;AL356580;AMYH01005316;NG_010928 RPL7A_25_1330 pseudo 35482 INFERRED 2304566 RPL7AP60 ribosomal protein L7a pseudogene 60 12 12 12 q24.13 112365927 112366800 - 112739616 112740489 - 112739616 112740489 - 19123937 100271538 ABBA01019926;AC004217;AMYH01004754;NG_010924 RPL7A_25_1279 pseudo 35859 INFERRED 2305552 RPL7AP63 ribosomal protein L7a pseudogene 63 16 16 16 q24.1 70860006 70860885 + 85116564 85122980 + 86559041 86559920 + 19123937 401865 ABBA01034302;AC009108;AMYH01007897;NG_011041 1691216;1849365 RH80421;SHGC-60741 RPL7A_28_1503 pseudo 35504 INFERRED 2304567 RPL7AP57 ribosomal protein L7a pseudogene 57 11 11 11 q14.3 89194536 89195402 + 91894247 91895113 + 91894247 91895113 + 19123937 100271537 ABBA01040059;AMYH01003945;AP003124;NG_010920 1751559 SHGC-105387 RPL7A_23_1164 pseudo 36551 INFERRED 2305622 RPL7AP62 ribosomal protein L7a pseudogene 62 15 15 15 q21.1 24914735 24915612 - 45809551 45824768 - 48022280 48023157 - 6480464 19123937 644029 ABBA01039148;AC044787;AMYH01006627;NG_010977;NG_029119 1722055;2161056 D15S666;G59914 RPL7A_28_1429 pseudo 36890 INFERRED 2305461 RPL7AP64 ribosomal protein L7a pseudogene 64 17 17 p13.1 6981735 6987242 + 7044264 7044911 + 19123937 728486 ABBA01054851;AC120057;AMYH01008069;NG_011376 RPL7A_29_1509 pseudo 35821 INFERRED 2304563 RPL7AP65 ribosomal protein L7a pseudogene 65 17 17 17 p11.2 19156267 19157078 + 18215196 18216007 + 18215196 18216007 + 19123937 100271543 ABBA01009733;AC127537;AMYH01008168;NG_010952 RPL7A_30_1522 pseudo 37031 INFERRED 2304564 RPL7AP67 ribosomal protein L7a pseudogene 67 18 18 18 q12 29771160 29771840 - 32963309 32963989 - 32963309 32963989 - 19123937 100271542 ABBA01022448;AC007998;AMYH01008936;NG_010944 RPL7A_29_1595 pseudo 35537 INFERRED 2305794 RPL7AP68 ribosomal protein L7a pseudogene 68 19 p12 21124228 21125171 - 19123937 729926 AC010620;NG_010371 RPL7A_31_1637 pseudo 37014 2304562 RPL7AP69 ribosomal protein L7a pseudogene 69 19 19 19 q13.43 54620401 54621194 + 57576714 57577507 + 57576714 57577507 + 19123937 100271545 ABBA01020819;AC044792;AMYH01010026;NG_010957 RPL7A_31_1673 pseudo 36697 INFERRED 1351099 RPL7AP7 ribosomal protein L7a pseudogene 7 6 6 6 p21.3 31374043 31374930 - 29878889 29879778 - 29770910 29771797 - 19123937;10557312 353013 ABBA01038036;AL645939;AL671561;AL844851;AMYH01016198;BA000025;BX005428;BX927141;CR759769;CR788234;CR925767;NG_002738 RPL7A_13_677;RPL7B;dJ377H14.2 pseudo 21395 INFERRED 2304508 RPL7AP66 ribosomal protein L7a pseudogene 66 18 18 18 q12.2 33726926 33727801 - 35136838 35179061 - 36914781 36915656 - 6480464 19123937;21988832;23251661 388474 ABBA01022400;AC011139;AMYH01008947;NG_010633 RPL7A_30_1597 pseudo 35682 INFERRED 6481463 RPL7AP73 ribosomal protein L7a pseudogene 73 13 23377432 23377737 + 100873817 ABBA01068625;AL162853;AMYH01004965;NG_032383 pseudo 41968 INFERRED 2305572 RPL7AP70 ribosomal protein L7a pseudogene 70 22 22 22 q11.21 3631865 3632743 + 18159692 18160699 + 19779798 19780676 + 6480464 19123937 728139 ABBA01005404;AC000089;AMYH01012482;NG_010403 1656234 D22S1266 RPL7A_32_1739 pseudo 36752 INFERRED 2305489 RPL7AP72 ribosomal protein L7a pseudogene 72 X X q25 127830729 127831496 + 127447259 127448026 + 19123937 100270754 ABBA01047672;AMYH01022957;NG_009639;Z70272 RPL7A_34_1809 pseudo 36442 INFERRED 2304754 RPL7AP71 ribosomal protein L7a pseudogene 71 X X X p11.22 58080959 58081725 + 54249736 54250502 + 54249736 54250502 + 19123937 100271399 ABBA01069659;AMYH01022430;NG_010209;NG_021259;Z84469 RPL7A_33_1780 pseudo 35754 INFERRED 1606692 RPL7AP9 ribosomal protein L7a pseudogene 9 q15-q21 8482538 161322 AJ224081;NG_001316 1697916 RH102487 rpL7a pseudo 32398 4891561 RPL7L1P1 ribosomal protein L7-like 1 pseudogene 1 13 13 13 q31.3 71331016 71331767 - 89283565 89350728 - 90485555 90486306 - 100129260 ABBA01027254;AL355821;AL359842;AL591764;AMYH01005280;NG_009895 1719601;1751355;1758599 RH123705;SHGC-105150;SHGC-148905 pseudo 39455 VALIDATED 1353827 RPL7AP8 ribosomal protein L7a pseudogene 8 10 10 10 q23.2 82393298 82394160 - 88380406 88381458 - 88390523 88391385 - 19123937 340749 ABBA01033680;AC067750;AMYH01002900;NG_005665 RPL7A_24_1075;bA141D8.1 pseudo 23738 INFERRED 5130585 RPL7L1P12 ribosomal protein L7-like 1 pseudogene 12 13 13 80445617 80446342 - 99601976 99602701 - 100420200 ABBA01027132;AL139084;AMYH01005325;NG_024880 pseudo 39811 INFERRED 6771204 RPL7L1P13 ribosomal protein L7-like 1 pseudogene 13 4 q25 111320920 111321672 - 9847074 100133103 ABBA01063798;AC093872;AMYH01014461;NG_009923 1779161 SHGC-23232 pseudo 44212 INFERRED 4891975 RPL7L1P3 ribosomal protein L7-like 1 pseudogene 3 7 7 7 q11.23 70420638 70421343 + 75389982 75390700 + 75552068 75552773 + 100131964 ABBA01005894;AC005067;AMYH01017557;NG_008930;NG_009435 pseudo 39485 INFERRED 4891980 RPL7L1P2 ribosomal protein L7-like 1 pseudogene 2 7 7 51391940 51392675 - 51327129 51327864 - 100420155 AACC02000075;ABBA01011810;AC005535;AMYH01017248;CH236955;NG_026460 pseudo 39484 INFERRED 4891978 RPL7L1P4 ribosomal protein L7-like 1 pseudogene 4 5 5 5 q23.1 113063361 113064125 - 117142399 117147726 - 117114521 117115285 - 100130968 ABBA01069001;AC114322;AMYH01015568;NG_009915 pseudo 39486 INFERRED 4891979 RPL7L1P6 ribosomal protein L7-like 1 pseudogene 6 13 13 81966014 81966989 + 101121475 101122450 + 100420201 ABBA01027088;AL136526;AMYH01005334;NG_024947 pseudo 39488 INFERRED 4891974 RPL7L1P7 ribosomal protein L7-like 1 pseudogene 7 3 3 3 q23 137226768 137227485 - 140283186 140283909 - 138800502 138801219 - 646641 ABBA01059066;AC069525;AMYH01013536;NG_022221 pseudo 39489 INFERRED 4891977 RPL7L1P11 ribosomal protein L7-like 1 pseudogene 11 X X X q28 147894161 147894913 + 147347882 147354640 + 147546205 147546957 + 347509 ABBA01049757;AC002368;AMYH01023185;NG_009927 pseudo 39493 INFERRED 4891976 RPL7L1P8 ribosomal protein L7-like 1 pseudogene 8 3 3 3 q26.33 180762662 180763415 + 183722786 183811895 + 182328457 182329210 + 402152 ABBA01058492;AC021055;AMYH01013700;NG_009922 1656526;1858271;2152698 D3S2382;D3S3402;G16586 pseudo 39490 INFERRED 4891985 RPL7L1P5 ribosomal protein L7-like 1 pseudogene 5 17 17 17 q21.31 39152019 39152753 - 39797908 39798677 - 42442385 42443119 - 390800 ABBA01028374;AC003043;AMYH01008418;NG_022451 pseudo 39487 INFERRED 2305583 RPL7P10 ribosomal protein L7 pseudogene 10 1 1 1 p31.1 79796623 79797454 - 81336534 81348434 - 81563880 81564711 - 19123937 646538 ABBA01074356;AL158218;AMYH01000739;NG_010722 1692596;1707774;1740739 AL033934;D1S3235;SHGC-82107 RPL7_2_66 pseudo 36599 INFERRED 1347681 RPL7P ribosomal protein L7 pseudogene 5 5 5 q33.3 145555216 145556045 + 149453941 149454974 + 149473848 149474677 + 19123937;8001978 6174 ABBA01026286;AC011382;AMYH01015706;NG_001193;NG_012303;X72686;X72687 2112196;5021962 D5S2771;Rpl7 RPL17P;RPL7_11_628 pseudo 10367 INFERRED 2305451 RPL7P11 ribosomal protein L7 pseudogene 11 1 1 p36.23 7919191 7919872 + 8810469 8811150 + 19123937 100270823 ABBA01035522;AL357552;AMYH01000230;NG_011186 RPL7_1_6 pseudo 35667 INFERRED 4891983 RPL7L1P9 ribosomal protein L7-like 1 pseudogene 9 2 2 2 q35 212393147 212393905 - 218333515 218334411 - 218625261 218626019 - 100128899 ABBA01062833;AC010886;AMYH01011494;NG_009911 pseudo 39491 INFERRED 2305528 RPL7P13 ribosomal protein L7 pseudogene 13 2 2 2 p16.3 49945957 49946779 + 49931322 49960080 + 50105750 50106572 + 19123937 130728 ABBA01075203;AC078994;AC109817;AMYH01010343;NG_010878 1709882 SHGC-84780 RPL7_4_218 pseudo 36861 INFERRED 2305669 RPL7P12 ribosomal protein L7 pseudogene 12 2 2 2 p22.2 38299504 38300339 + 38312214 38313034 + 38458690 38459525 + 19123937 100131085 ABBA01074990;AC009229;AMYH01010264;NG_010041 RPL7_3_208 pseudo 36611 INFERRED 2305429 RPL7P15 ribosomal protein L7 pseudogene 15 3 3 q21.1-q21.2 122277927 122278661 - 123870742 123871476 - 19123937 100270850 ABBA01016443;AC117401;AMYH01013435;NG_009964;NG_012742 1341560 D3S2316 RPL7_4_398 pseudo 36740 INFERRED 2304850 RPL7P14 ribosomal protein L7 pseudogene 14 2 2 2 q33.2 197657785 197658399 + 203613073 203613687 + 203904828 203905442 + 19123937 100129743 ABBA01062595;AC023271;AMYH01011416;CH471063;NG_011075 EAW70327 RPL7_5_313 pseudo 35984 INFERRED 733694 RPL6 ribosomal protein L6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6E family of ribosomal proteins. It is located in the cytoplasm. The protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and it has been suggested that the protein may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q24.1 111327377 111331826 - 112842994 112847443 - 1580863;6480464 8457378;8479925;15189156;14567916;15635413;15489334;15121898;14743216;12962325;12678981;12477932;11823430;11790298;11401437;11043511;10944468;9826564;9582194;9529352;8722009;8185817;7821789;7251593;6468376;16169070;17267499;21145461;21319273;21642993;20171175;21182205;21572416;21252943;16196087;22939629;19928837;17620599;22586326;22043320;22145905;12777385;15303970;18274552;18781797;20972266;21139048;21890473;21906983;21963094;21987572;22178446;21110914;17361185;21628590;17203973;22053931;22174317;22505724;22944692 6128 F8VR69;F8VRY1;F8VWR1;F8VZ45;F8VZA3;F8W181;Q02878;Q8TBK5 AB042820;ABBA01019933;AC004086;AF261087;AK298117;AK299470;AK308469;AK311863;AMYH01004754;AY320410;BC004138;BC013863;BC020679;BC022444;BC031009;BC032299;BC070195;BC071912;BC104824;BC104826;BU940020;CH471054;D17554;D28388;NM_000970;NM_001024662;S71022;X69391 AAB30819;AAF99680;AAH04138;AAH20679;AAH22444;AAH31009;AAH32299;AAH71912;AAI04825;AAI04827;AAP73810;BAA04491;BAA05754;BAB17292;BAG34804;BAG60400;BAG61435;CAA49188;EAW98004;EAW98005;EAW98006;EAW98007;EAW98008;EAW98009;EAW98010;NP_000961;NP_001019833;Q02878 Hs.528668;Hs.546283 5122795 D12S1304 L6;SHUJUN-2;TAXREB107;TXREB1 60S ribosomal protein L6;DNA-binding protein TAXREB107;OTTHUMP00000241860;OTTHUMP00000241861;OTTHUMP00000241862;neoplasm-related protein C140;tax-responsive enhancer element-binding protein 107 APPROVED protein-coding ENSG00000089009 10362 04745 603703 REVIEWED 2305428 RPL7P17 ribosomal protein L7 pseudogene 17 4 4 q21.1 75304929 75305643 - 78003552 78004266 - 19123937 100270851 ABBA01063370;AC104771;AMYH01014319;NG_009971 RPL7_6_493 pseudo 36116 INFERRED 1348758 RPL7P2 ribosomal protein L7 pseudogene 2 20 20 20 p13 2120151 2120418 + 2004101 2004572 + 2056202 2056469 + 140695 ABBA01053785;AL359916;AMYH01011666;NG_000981 1756725 SHGC-143835 bA550O8.1 pseudo 16336 INFERRED 2305427 RPL7P18 ribosomal protein L7 pseudogene 18 5 5 q15 90023463 90024289 - 94161595 94162421 - 19123937 100270852 ABBA01069265;AC008534;AMYH01015488;NG_009976 RPL7_7_596 pseudo 36949 INFERRED 2305904 RPL7P16 ribosomal protein L7 pseudogene 16 3 3 3 q22.1 130388594 130389420 - 133444990 133445807 - 131962304 131963130 - 19123937 729677 ABBA01059187;AC073021;AMYH01013501;NG_010415 RPL7_5_405 pseudo 36591 INFERRED 2305426 RPL7P19 ribosomal protein L7 pseudogene 19 5 5 q31 133930267 133930954 + 137809419 137810106 + 19123937 100270853 ABBA01068671;AC113403;AMYH01015642;NG_009983 RPL7_9_617 pseudo 36268 INFERRED 2304976 RPL7P20 ribosomal protein L7 pseudogene 20 5 5 5 q34 161493291 161494138 - 165388084 165388894 - 165455489 165456336 - 19123937 728843 ABBA01044167;AC008499;AMYH01015776;NG_010025 RPL7_8_636 pseudo 36013 INFERRED 2305224 RPL7P22 ribosomal protein L7 pseudogene 22 5 5 5 q13.2 67916649 67917386 + 72057000 72057737 + 72021244 72021981 + 19123937 728620 ABBA01061907;AC063979;AMYH01015402;NG_009670 RPL7_6_574 pseudo 35802 INFERRED 2304626 RPL7P21 ribosomal protein L7 pseudogene 21 5 5 5 q31.3 138780352 138794547 + 142679353 142693548 + 142699160 142713355 + 19123937 729123 ABBA01026363;AC091925;AMYH01015669;CH471062;NG_009062;NG_010188 EAW61874 1780564;2129642;2132734 D5S1871;SHGC-58162;bac51148T RPL7_10_623 pseudo 36762 INFERRED 2305909 RPL7P23 ribosomal protein L7 pseudogene 23 5 5 5 q13.3 72772681 72773527 + 76913915 76914795 + 76878179 76879025 + 19123937;11181995 648000 ABBA01061981;AC108173;AMYH01015428;CH471084;NG_010343 EAW95808 RPL7_7_580 pseudo 35658 INFERRED 2304385 RPL7P24 ribosomal protein L7 pseudogene 24 5 5 5 q14.1 75697442 75698598 + 79831908 79833043 + 79796131 79797287 + 19123937 100127893 ABBA01062041;AC008771;AMYH01015445;NG_010787 RPL7_8_586 pseudo 36715 INFERRED 2305534 RPL7P25 ribosomal protein L7 pseudogene 25 6 6 6 p21.31 36138625 36139427 + 34692293 34693013 + 34584299 34585101 + 19123937 100129061 ABBA01038193;AL031577;AMYH01016259;NG_009529 FLJ32402;RPL7_12_684 pseudo 36455 INFERRED 2305661 RPL7P27 ribosomal protein L7 pseudogene 27 6 6 6 q14.3 87215227 87216053 - 86852852 86853592 - 86796067 86796893 - 19123937 643906 ABBA01040480;AL049545;AMYH01016487;NG_010353 RPL7_11_720 pseudo 36649 INFERRED 2305500 RPL7P26 ribosomal protein L7 pseudogene 26 6 6 6 p22.3 18769101 18769630 - 17639030 17639860 - 17531059 17531588 - 6480464 19123937 728380 ABBA01022220;AL034372;AL138824;AMYH01016119;NG_009536 RPL7_9_661 pseudo 36630 INFERRED 2305693 RPL7P28 ribosomal protein L7 pseudogene 28 6 6 6 q21 110394970 110395688 - 109755071 109755810 - 109648378 109649096 - 19123937 442242 ABBA01026127;AL359711;AMYH01016582;NG_011375 RPL7_12_736 pseudo 35899 INFERRED 1346184 RPL7P3 ribosomal protein L7 pseudogene 3 20 20 20 q13.33 57880214 57880928 + 60580223 60581137 + 61169878 61170592 + 23251661 140857 ABBA01012316;AL449263;AMYH01012058;NG_001005 dJ353C17.2 pseudo 16566 INFERRED 2305656 RPL7P29 ribosomal protein L7 pseudogene 29 6 6 6 q14.3 88098924 88099748 + 87736858 87737629 + 87680152 87680976 + 19123937 643971 ABBA01040487;AL157777;AMYH01016490;NG_010680 RPL7_13_721 pseudo 35700 INFERRED 2305320 RPL7P30 ribosomal protein L7 pseudogene 30 7 7 7 q21.11 78859322 78860035 - 84157433 84158146 - 84157433 84158146 - 19123937 100270908 AACC02000015;ABBA01045891;AC004907;AMYH01017662;CH236949;NG_010316 1340598 D7S2485 RPL7_13_818 pseudo 36151 INFERRED 2305319 RPL7P31 ribosomal protein L7 pseudogene 31 7 7 7 p14.3 34731589 34731968 + 34750715 34751094 + 34750715 34751094 + 19123937 100270909 AACC02000103;ABBA01056880;AC005492;AMYH01017172;NG_010320;NG_021366 RPL7_14_803 pseudo 36988 INFERRED 2305666 RPL7P33 ribosomal protein L7 pseudogene 33 9 9 9 p22.3 15295048 15295878 + 15351360 15352137 + 15361372 15362202 + 19123937 286348 ABBA01065280;AL390246;AMYH01019245;NG_010731 RPL7_16_965 pseudo 35937 INFERRED 2304948 RPL7P35 ribosomal protein L7 pseudogene 35 10 10 10 q25 106041419 106042246 - 112309804 112310631 - 112309804 112310631 - 19123937 100271216 ABBA01063027;AL359260;AMYH01003063;NG_010577 RPL7_15_1095 pseudo 36153 INFERRED 2305524 RPL7P34 ribosomal protein L7 pseudogene 34 10 10 10 q23.31 84125153 84125506 - 90368319 90368672 - 90378339 90378692 - 19123937 389992 ABBA01021955;AL139406;AMYH01002933;CH471066;NG_010538 EAW50164 RPL7_14_1078 pseudo 36181 INFERRED 2304946 RPL7P36 ribosomal protein L7 pseudogene 36 10 10 10 q24.2 94544232 94544978 + 100807380 100808126 + 100807380 100808126 + 19123937 100271218 ABBA01063257;AL590036;AMYH01002987;NG_010586;NG_023416 RPL7_18_1089 pseudo 37045 INFERRED 2305637 RPL7P38 ribosomal protein L7 pseudogene 38 12 12 12 q21.31 80089210 80090033 + 78946804 78947545 + 80422657 80423480 + 19123937 120872 ABBA01053498;AC074272;AMYH01004610;NG_010219 RPL7_24_1261 pseudo 36731 INFERRED 2305748 RPL7P32 ribosomal protein L7 pseudogene 32 7 7 7 q31.1 102964019 102964848 + 107937883 107939062 + 108150657 108151486 + 19123937;21145461;21628590;21987572 100130892 O95036 AACC02000004;ABBA01057890;AC005058;AMYH01017838;CH236947;NG_010411 AAD08846 RPL7P;RPL7_15_834 pseudo 35692 INFERRED 2305663 RPL7P37 ribosomal protein L7 pseudogene 37 10 10 10 p11.21 35752608 35753439 + 36026229 36026973 + 35986202 35987033 + 19123937 439954 ABBA01033329;AL356093;AMYH01002242;NG_010766 RPL7_17_1035 pseudo 36656 INFERRED 2304947 RPL7P39 ribosomal protein L7 pseudogene 39 12 12 12 q14.3 64927136 64927968 - 65261668 65262500 - 65261668 65262500 - 19123937 100271217 ABBA01026594;AC078815;AMYH01004550;NG_010581 RPL7_16_1250 pseudo 36214 INFERRED 2304943 RPL7P41 ribosomal protein L7 pseudogene 41 12 12 12 q13 52926027 52926713 + 53279507 53280193 + 53279507 53280193 + 19123937 100271222 ABBA01008297;AC107016;AMYH01004474;NG_010611 RPL7_21_1238 pseudo 36297 INFERRED 2304945 RPL7P40 ribosomal protein L7 pseudogene 40 12 12 12 p12.3 22418385 22419129 + 17274650 17275394 + 17274650 17275394 + 19123937 100271220 ABBA01067915;AC092793;AMYH01004306;NG_010600 RPL7_19_1215 pseudo 36031 INFERRED 1348113 RPL7P4 ribosomal protein L7 pseudogene 4 6 6 6 p21.33 32262662 32263452 - 30772562 30775759 - 30664523 30665313 - 19123937 100133037 AB088099;ABBA01038053;AL662797;AL662848;AL845353;AMYH01016206;BX908728;BX927283;CR759873;CR788240;CR936878;NG_009564 1671884;1774625;2126831 RH25387;RH36324;WI-15445 Em:AB023049.2;KIAA1949;RPL7_10_678 pseudo 21634 INFERRED 2304942 RPL7P42 ribosomal protein L7 pseudogene 42 12 12 12 q15 68743010 68743538 + 69079560 69080088 + 69079560 69080088 + 19123937 100271223 ABBA01026553;AC090061;AMYH01004562;NG_010616 RPL7_22_1255 pseudo 35543 INFERRED 2304941 RPL7P43 ribosomal protein L7 pseudogene 43 12 12 12 q21.2 76780979 76781816 + 77115298 77116135 + 77115298 77116135 + 19123937 100271224 ABBA01053541;AC107032;AMYH01004601;NG_010619 RPL7_23_1260 pseudo 36441 INFERRED 2304989 RPL7P44 ribosomal protein L7 pseudogene 44 13 13 13 q22.3 58453234 58454059 - 76452752 76454439 - 77555247 77556072 - 19123937 390413 ABBA01021659;AC001226;AMYH01005222;NG_010043 RPL7_17_1325 pseudo 36143 INFERRED 2304940 RPL7P45 ribosomal protein L7 pseudogene 45 13 13 13 q33.2 86311118 86311942 + 105466662 105467486 + 105466662 105467486 + 19123937 100271225 ABBA01027061;AL355552;AMYH01005352;NG_010625 1717375 RH122178 RPL7_25_1334 pseudo 35522 INFERRED 1350931 RPL7 ribosomal protein L7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 8 8 q21.11 74365428 74368423 - 74202874 74205869 - 1580863;6480464 8441630;8360149;18697920;15189156;14567916;17258209;16797011;15635413;15592455;15489334;12962325;12704204;12477932;12401809;11790298;9582194;9268371;8722009;8125298;7862521;7750987;16169070;21145461;21319273;16541025;18809582;19615732;20379614;20828572;21509594;20308691;21182205;22939629;16196087;15047060;19928837;12777385;15161933;18274552;18457437;18781797;19287380;19596686;21081666;21900206;21906983;21987572;22178446;22412388;17620599;22586326;17361185;21628590;17203973;20391533;23080069;23084401;23266416;21853274;22505724;22944692 6129 A8MUD9;C9JIJ5;C9JZ88;P18124 ABBA01041964;AC111149;AK225246;AK225254;AK291119;AK313365;AMYH01018790;BC006095;BC008850;BC009599;BC070215;BC071671;BC071894;BC071895;BC087837;CH471068;CR456773;L16557;L16558;NM_000971;X52967;X57958;X57959 AAA03081;AAH06095;AAH08850;AAH09599;AAH71671;AAH71894;AAH71895;AAH87837;BAF83808;BAG36165;CAA37139;CAA41026;CAA41027;CAG33054;EAW86999;EAW87000;NP_000962;P18124 Hs.421257;Hs.571841 2162509;5021962 D8S1958;Rpl7 L7;MGC117326;humL7-1 60S ribosomal protein L7;OTTHUMP00000166002;OTTHUMP00000166003;OTTHUMP00000166004;OTTHUMP00000166005 APPROVED protein-coding ENSG00000147604 10363 05004 604166 REVIEWED 2304987 RPL7P46 ribosomal protein L7 pseudogene 46 16 16 16 p13.13 11290262 11291862 + 11028319 11029919 + 11120818 11122418 + 19123937 642451 ABBA01006805;AC007014;AMYH01007152;NG_010773;NG_016757 RPL7_26_1472 pseudo 36706 INFERRED 2304511 RPL7P48 ribosomal protein L7 pseudogene 48 17 17 17 q21.33 46040962 46041793 - 46934774 46938095 - 49579783 49580614 - 19123937 388401 ABBA01041265;AC005883;AMYH01008483;NG_010260 RPL7_19_1558 pseudo 35540 INFERRED 2304944 RPL7P49 ribosomal protein L7 pseudogene 49 17 17 17 q25 71018807 71019600 - 74426433 74427226 - 74426433 74427226 - 19123937 100271221 ABBA01028742;AC015802;AMYH01008643;NG_010606 RPL7_20_1575 pseudo 36912 INFERRED 2303448 RPL7P5 ribosomal protein L7 pseudogene 5 15 15 q26.3 76510451 76511266 - 100091519 100092333 - 19123937 654381 ABBA01020554;AC103967;AMYH01006966;NG_009530 RPL7_18_1464 pseudo 28886 INFERRED 2304386 RPL7P50 ribosomal protein L7 pseudogene 50 19 19 19 p13.3 6533157 6533971 + 6544336 6547884 + 6593317 6594131 + 19123937 729449 ABBA01051465;AC008760;AMYH01009377;NG_010543 RPL7_28_1618 pseudo 35816 INFERRED 2304939 RPL7P51 ribosomal protein L7 pseudogene 51 19 19 19 q13.3 49203165 49204004 + 52152091 52152930 + 52152091 52152930 + 19123937 100271226 ABBA01068267;AC018755;AMYH01009952;NG_010631 5106015 SHGC-146146 RPL7_29_1664 pseudo 36432 INFERRED 2305360 RPL7P52 ribosomal protein L7 pseudogene 52 22 22 22 q13.1 24304307 24305140 - 38832188 38836319 - 40502257 40503090 - 19123937 646912 ABBA01055593;AL031589;AMYH01012786;NG_009750 RPL7_21_1751 pseudo 35676 INFERRED 2305047 RPL7P53 ribosomal protein L7 pseudogene 53 X X q13.2 73038816 73039554 + 72755339 72756077 + 19123937 100271145 ABBA01059667;AL450108;AMYH01022611;NG_010222 RPL7_30_1785 pseudo 36831 INFERRED 2305046 RPL7P54 ribosomal protein L7 pseudogene 54 X X q21.1 78259044 78259876 + 78018639 78019471 + 19123937 100271146 ABBA01030136;AL590083;AMYH01022638;NG_010226 RPL7_31_1789 pseudo 36817 INFERRED 2305045 RPL7P55 ribosomal protein L7 pseudogene 55 X X q21.32 93354076 93354889 + 92828831 92829644 + 19123937 100271147 ABBA01064922;AL157382;AMYH01022689;NG_010232 RPL7_32_1793 pseudo 36105 INFERRED 2305812 RPL7P57 ribosomal protein L7 pseudogene 57 X X X p11.23 51895658 51896405 - 47585306 47586053 - 47700362 47701109 - 19123937 643507 ABBA01052409;AL022578;AMYH01022266;NG_010930;NG_021266 RPL7_22_1777 pseudo 35901 INFERRED 2304423 RPL7P47 ribosomal protein L7 pseudogene 47 16 16 16 p12.3 17569117 17569745 + 17933970 17934789 + 18026574 18027202 + 19123937 146110 ABBA01006941;AC010601;AMYH01007187;NG_004804 RPL7_27_1478 pseudo 35913 INFERRED 1605905 RPL7P6 ribosomal protein L7 pseudogene 6 12 12 12 p12.3 24387538 24388358 + 19132673 19134258 + 19242065 19242885 + 19123937 90193 ABBA01067929;AC092828;AMYH01004311;NG_005389 1762249 SHGC-146112 RPL7_20_1216 pseudo 32430 INFERRED 2305847 RPL7P8 ribosomal protein L7 pseudogene 8 1 1 1 p13.3 108459065 108459560 + 109995508 109996325 + 110193985 110194480 + 19123937 441896 ABBA01068380;AC000031;AL355310;AMYH01000935;NG_010218 RPL7_2_84 pseudo 35914 INFERRED 1349022 RPL8P1 ribosomal protein L8 pseudogene 1 6 6 p21 29226382 29226524 - 27620370 27620512 - 387046 ABBA01038004;AL031229;AMYH01016189;NG_009559 RPL2p;RPL8P;dJ15D7.1 pseudo 13980 VALIDATED 2304983 RPL7P7 ribosomal protein L7 pseudogene 7 1 1 1 p36.23 7954923 7955745 - 8768691 8769999 - 8846188 8847010 - 19123937 644896 ABBA01035522;AL357552;AMYH01000230;NG_005688 1851452 RH46183 RPL7_1_7 pseudo 36895 INFERRED 1344976 RPL8P2 ribosomal protein L8 pseudogene 2 21 21 21 q22.11 16818865 16825726 - 30557602 30564462 - 31635731 31642591 - 6480464 100128766 ABBA01057268;AMYH01012189;AP000884;NG_009886 1655338;1735180 D3S2824E;STS-Z28407 pseudo 17220 INFERRED 2305580 RPL7P9 ribosomal protein L7 pseudogene 9 1 1 1 p21.3 95398650 95399482 - 96902064 96935618 - 97144364 97145196 - 19123937;11181995 653702 ABBA01045483;AL357150;AMYH01000813;CH471097;NG_007184 EAW73011 5021962 Rpl7 RPL7_3_75 pseudo 37028 INFERRED 2304856 RPL7P56 ribosomal protein L7 pseudogene 56 X X X q26.3 136236884 136237695 + 135698103 135701605 + 135873196 135874007 + 19123937 728962 ABBA01055945;AL683813;AMYH01023050;NG_010676 RPL7_33_1817 pseudo 35588 INFERRED 2305368 RPL8P4 ribosomal protein L8 pseudogene 4 3 3 3 q26.31 172494415 172495246 + 175577728 175578489 + 174094999 174095830 + 19123937 402150 ABBA01058622;AC069218;AMYH01013655;NG_011184 RPL8_1_438 pseudo 35555 INFERRED 2305425 RPL8P3 ribosomal protein L8 pseudogene 3 3 3 q23 140969399 140970073 - 142545896 142546570 - 19123937 100270854 ABBA01059022;AC021074;AMYH01013548;NG_009991 1735180;2140874 D3S2824E;D3S4174 RPL8_1_413 pseudo 36407 INFERRED 1348949 RPL9P1 ribosomal protein L9 pseudogene 1 X pter-p21 23854761 23855463 - 8597601 6126 AC131011;NG_001192;NG_013219;U09955 RPL9L1 pseudo 10370 2305424 RPL9P10 ribosomal protein L9 pseudogene 10 1 1 q42.2 207691616 207692321 + 234420697 234421402 + 19123937 100270855 ABBA01033093;AL122008;AMYH01001831;NG_009998 RPL9_2_176 pseudo 35686 INFERRED 2304633 RPL9P11 ribosomal protein L9 pseudogene 11 1 1 1 p36.22 8742410 8743086 + 9559050 9559726 + 9636463 9637139 + 19123937 642740 Q6ZP07 ABBA01035558;AK130277;AL954705;AMYH01000241;NG_006150 BAC85318 Hs.661110 RPL9_1_9 pseudo 35621 INFERRED 2305173 RPL8P5 ribosomal protein L8 pseudogene 5 22 22 q11.21 3726882 3727563 + 19874812 19875493 + 19123937 100271044 ABBA01005403;AC000078;AMYH01012482;NG_011013 RPL8_2_1740 pseudo 35758 INFERRED 2305423 RPL9P13 ribosomal protein L9 pseudogene 13 2 2 q22.1 134201900 134202480 - 140490277 140490857 - 19123937 100270856 ABBA01028113;AC012497;AMYH01011133;NG_010007 RPL9_2_278 pseudo 36558 INFERRED 2305450 RPL9P12 ribosomal protein L9 pseudogene 12 1 1 p32.3 50943055 50943459 - 52655577 52655981 - 19123937 100270825 ABBA01074777;AL139156;AMYH01000619;NG_011199 RPL9_1_50 pseudo 36728 INFERRED 2305422 RPL9P15 ribosomal protein L9 pseudogene 15 3 3 q25.2 152814823 152815367 - 154394377 154394921 - 19123937 100270857 ABBA01058869;AC117485;AMYH01013590;NG_010012 RPL9_4_422 pseudo 35539 INFERRED 2305351 RPL9P17 ribosomal protein L9 pseudogene 17 5 5 5 p13.3 31702804 31703508 - 31858425 31859000 - 31822567 31823271 - 19123937 728523 ABBA01066723;AC010469;AMYH01014993;NG_011050 RPL9_5_548 pseudo 36337 INFERRED 2305680 RPL9P16 ribosomal protein L9 pseudogene 16 4 4 4 q32.3 167008192 167008875 + 169913542 169914329 + 169676949 169677632 + 19123937 727835 ABBA01070332;AC080188;AMYH01014698;NG_010139;NG_013376 RPL9_3_534 pseudo 36851 INFERRED 2304975 RPL9P19 ribosomal protein L9 pseudogene 19 7 7 7 p21.3 8948500 8949183 + 8940209 8945510 + 8978401 8979084 + 19123937 100129634 AACC02000012;ABBA01056533;AC009500;AMYH01017066;CH236948;NG_010510 RPL9_4_783 pseudo 36688 INFERRED 2304964 RPL9P14 ribosomal protein L9 pseudogene 14 2 2 2 q33.3 202658121 202658822 - 208604286 208604922 - 208896015 208896716 - 19123937 100132061 ABBA01062695;AC093698;AMYH01011452;NG_011145 RPL9_3_318 pseudo 36816 INFERRED 2305707 RPL9P18 ribosomal protein L9 pseudogene 18 6 6 6 q12 62486196 62486853 - 64383643 64384231 - 64325641 64326298 - 19123937 389404 ABBA01023956;AL513043;AMYH01016387;NG_010148 RPL9_6_709 pseudo 36954 INFERRED 1351822 RPL9P2 ribosomal protein L9 pseudogene 2 17 17 17 p12 15371466 15372142 + 15287505 15288238 + 15346927 15347603 + 9027492;19123937 729004 ABBA01055043;AC005517;AMYH01008130;NG_009558 RPL9_10_1518 pseudo 17049 VALIDATED 2305501 RPL9P21 ribosomal protein L9 pseudogene 21 10 10 10 q11.21 40913115 40913902 - 44229973 44230607 - 44909863 44910650 - 19123937 728374 ABBA01050019;AL355141;AMYH01002296;NG_010286 RPL9_8_1037 pseudo 35886 INFERRED 2304480 RPL9P22 ribosomal protein L9 pseudogene 22 11 11 11 q14.1 81660351 81661045 + 84028684 84029256 + 84351008 84351702 + 19123937 100130066 ABBA01017346;AMYH01003841;AP000852;NG_010079;NG_021375 RPL9_6_1163 pseudo 36994 INFERRED 2304347 RPL9P20 ribosomal protein L9 pseudogene 20 8 8 8 p22 15973855 15974561 - 17052181 17052768 - 17007712 17008418 - 19123937 100130392 ABBA01021586;AC079193;AMYH01018545;NG_010461 RPL9_7_879 pseudo 36996 INFERRED 2305172 RPL9P24 ribosomal protein L9 pseudogene 24 12 12 q23.2 101994007 101994465 + 102329994 102330452 + 19123937 100271045 ABBA01053233;AC084398;AMYH01004703;NG_011017 RPL9_7_1272 pseudo 36347 INFERRED 2305672 RPL9P23 ribosomal protein L9 pseudogene 23 11 11 11 p12 41711063 41713922 + 41514251 41517112 + 41557675 41560536 + 19123937 100131020 ABBA01060801;AC021006;AMYH01003517;NG_011057 RPL9_5_1139 pseudo 36807 INFERRED 2305109 RPL9P25 ribosomal protein L9 pseudogene 25 15 15 15 q22.31 43561608 43562307 - 64458462 64466174 - 66671576 66672275 - 19123937 654350 ABBA01038824;AC055855;AMYH01006722;NG_010052 RPL9_13_1445 pseudo 36112 INFERRED 2304938 RPL9P26 ribosomal protein L9 pseudogene 26 15 15 15 q11.2-q12 5257800 5258296 - 27096261 27096757 - 27096261 27096757 - 19123937 100271227 ABBA01048710;AC135999;AMYH01006492;NG_010635 RPL9_11_1421 pseudo 35633 INFERRED 2305600 RPL9P27 ribosomal protein L9 pseudogene 27 15 15 15 q15.1 17538980 17539679 - 38560240 38560806 - 40772850 40773549 - 19123937 100131246 ABBA01038449;AC013356;AMYH01006562;NG_010904 RPL9_12_1427 pseudo 37012 INFERRED 2304624 RPL9P28 ribosomal protein L9 pseudogene 28 17 17 17 q21.32 43222527 43223228 - 44123477 44124055 - 46768379 46769080 - 19123937 729146 ABBA01041174;AC091179;AMYH01008456;NG_009675 RPL9_16_1554 pseudo 36445 INFERRED 2303465 RPL9P3 ribosomal protein L9 pseudogene 3 14 14 q13.2 15595469 15596168 + 35731639 35732338 + 19123937 641616 ABBA01061501;AL121594;AMYH01005666;NG_009539 RPL9_8_1354 pseudo 23555 INFERRED 2305339 RPL9P29 ribosomal protein L9 pseudogene 29 17 17 17 q25.3 73439710 73440957 - 74353585 74354840 - 76841990 76843245 - 19123937 100129357 ABBA01002914;AC022966;AMYH01008675;NG_010416 RPL9_17_1576 pseudo 35533 INFERRED 1316865 RPL7A ribosomal protein L7a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 q34 135204890 135208101 + 136215069 136218280 + 6480464 8360149;15189156;14567916;10848616;15635413;15489334;15361074;15303970;12543931;12477932;11790298;11759826;11401437;9703018;9582194;9030593;8800442;8764399;8722009;8499913;8482538;8125298;7651828;7568167;2966065;2403926;1756182;1696715;16169070;19913121;20628086;20936779;16541025;19125294;17267499;21145461;16159877;22939629;23077236;23084401;19417104;21182205;22863883;20308691;21505254;12962325;16196087;18274552;18457437;18781797;19287380;19596686;20639865;20972266;21081666;21139048;21890473;21906983;21942715;21963094;21987572;22178446;17361185;17620599;21575865;21628590;22586326;22505724 6130 P62424;Q5T8U2;Q5T8U3 AB056665;ABBA01032461;AC002107;AK222534;AK291123;AK311743;AL158826;AL593848;AL772161;AMYH01021800;BC005128;BC020989;BC021052;BC021979;BC023594;BC023624;BC032533;BC071900;BC071901;BC073802;BC105290;BX641050;CH471090;M36072;NM_000972;X06705;X52138;X61923 AAA60282;AAH05128;AAH21979;AAH23594;AAH23624;AAH71900;AAH71901;AAH73802;AAI05291;ABM83624;ABM86866;BAB39381;BAF83812;BAG34686;CAA29889;CAA36383;CAA43925;CAI12832;CAI12833;CAI12834;EAW88061;EAW88062;EAW88063;EAW88064;EAW88065;EAW88066;NP_000963;P62424 Hs.499839 1852786;2116883 RP_L7A;STS-X52138 L7A;SURF3;TRUP 60S ribosomal protein L7a;OTTHUMP00000022469;PLA-X polypeptide;surfeit 3;surfeit locus protein 3;thyroid hormone receptor uncoupling protein APPROVED protein-coding ENSG00000148303 10364 01712 185640 REVIEWED 2305647 RPL9P30 ribosomal protein L9 pseudogene 30 17 17 17 q11.2 25043026 25043711 + 25206617 25207476 + 28182753 28183438 + 19123937 100128710 ABBA01015008;AC104982;AMYH01008298;NG_011028 RPL9_11_1536 pseudo 36316 INFERRED 2305679 RPL9P32 ribosomal protein L9 pseudogene 32 19 19 19 q12 27140901 27141608 - 35139061 35139756 - 30447213 30447920 - 19123937 727865 ABBA01039560;AC008507;AMYH01009680;NG_010302 RPL9_18_1643 pseudo 36418 INFERRED 2304937 RPL9P31 ribosomal protein L9 pseudogene 31 18 18 q21 56298490 56299003 + 56298490 56299003 + 19123937 100271228 ABBA01056153;AC104971;AMYH01009026;NG_010640 RPL9_12_1606 pseudo 36617 INFERRED 2304936 RPL9P33 ribosomal protein L9 pseudogene 33 19 19 19 q13.3 49175477 49176036 + 52124395 52124954 + 52124395 52124954 + 19123937 100271229 ABBA01068268;AC018755;AMYH01009952;NG_010645 RPL9_13_1663 pseudo 36273 INFERRED 2303464 RPL9P4 ribosomal protein L9 pseudogene 4 14 14 q12 31001752 31002328 - 31931589 31932628 - 19123937 644223 ABBA01061423;AL163973;AMYH01005642;NG_009540 RPL9_9_1348 pseudo 23556 INFERRED 2301777 RPL9P5 ribosomal protein L9 pseudogene 5 14 14 14 q23.1 39080771 39081451 + 58100576 58101115 + 59030776 59031456 + 19123937 100129179 ABBA01018262;AL135752;AMYH01005762;NG_008795 RPL9_9_1374 pseudo 23557 INFERRED 1345128 RPL9P6 ribosomal protein L9 pseudogene 6 14 14 14 q31.1 62284919 62285632 - 81312917 81313830 - 82243264 82243977 - 19123937 326311 ABBA01030604;AL160192;AMYH01005908;NG_002563 RPL9_10_1398 pseudo 19798 INFERRED 1347716 RPL9P7 ribosomal protein L9 pseudogene 7 X p22.1 23764582 23765484 - 19123937;8597601 317771 AC131011;NG_002471 RPL9L1;RPL9P1;RPL9_19_1768 pseudo 30335 1344936 RPLP0P1 ribosomal protein, large, P0 pseudogene 1 20 20 20 p12.1 16642087 16642542 - 16514878 16515533 - 16566978 16567433 - 6480464 128745 ABBA01054015;AL049794;AMYH01011736;NG_000973 dJ777L9.2 pseudo 16585 INFERRED 2303839 RPL9P9 ribosomal protein L9 pseudogene 9 15 15 15 q25.2 59602038 59602741 - 80451455 80452173 - 82664415 82665118 - 19123937 388147 AC139425;NG_003190 RPL9_14_1458 pseudo 17251 INFERRED 1606671 RPL9P8 ribosomal protein L9 pseudogene 8 15 15 15 q25.2 59602038 59602741 - 80837911 80838814 - 83040956 83041659 - 19123937;9847074;8597601 254948 ABBA01009561;AC011295;AMYH01006854;NG_002468 RPL9_15_1459 pseudo 30334 INFERRED 2304871 RPLP0P10 ribosomal protein, large, P0 pseudogene 10 15 15 15 q15.1 17370468 17371546 - 38391842 38396127 - 40604485 40605563 - 19123937 390578 ABBA01038454;AC020658;AMYH01006560;NG_010925 RPLP0_5_1426 pseudo 35991 INFERRED 2305226 RPLP0P11 ribosomal protein, large, P0 pseudogene 11 18 18 18 q21.1 44840870 44841915 + 46238255 46239163 + 47984184 47985229 + 19123937 647094 ABBA01018670;AC013759;AC090638;AMYH01008998;NG_010949 RPLP0_4_1600 pseudo 36572 INFERRED 2304373 RPLP0P4 ribosomal protein, large, P0 pseudogene 4 1 1 1 q21.3 126267985 126269050 + 151462406 151465106 + 153197483 153198548 + 19123937;19023099;17975119 391102 ABBA01049433;AL161636;AMYH01001403;NG_010984 RPLP0_1_100 pseudo 36489 INFERRED 2303346 RPLP0P3 ribosomal protein, large, P0 pseudogene 3 14 14 14 q13.2 15721134 15722225 - 34927002 34928026 - 35857261 35858352 - 19123937;22108332;22118674 122589 ABBA01061503;AL133163;AMYH01005666;NG_009485 RPLP0_4_1355 pseudo 23558 INFERRED 2305728 RPLP0P5 ribosomal protein, large, P0 pseudogene 5 1 1 1 q41 193709143 193710231 - 218556561 218557564 - 220489937 220491025 - 19123937 643779 ABBA01048080;AL451081;AMYH01001742;NG_011009 RPLP0_1_167 pseudo 35620 INFERRED 2305171 RPLP0P7 ribosomal protein, large, P0 pseudogene 7 2 2 q24.1 151247466 151248152 - 157634204 157634890 - 19123937 100271047 ABBA01004842;AC021849;AMYH01011193;NG_011029 RPLP0_2_288 pseudo 36578 INFERRED 2305643 RPLP0P8 ribosomal protein, large, P0 pseudogene 8 3 3 3 p14.1 68618880 68619784 - 68765336 68766240 - 68682646 68683550 - 19123937 100131151 ABBA01030895;AC096922;AMYH01013260;NG_010425 RPLP0_3_381 pseudo 35867 INFERRED 2304376 RPLP0P6 ribosomal protein, large, P0 pseudogene 6 2 2 2 p22.1 38549957 38551058 + 38553896 38566393 + 38708917 38710017 + 6480464 19123937;18029348;21110914;22939629;21906983;22108332;22118674 220717 Q8NHW5 ABBA01075003;AC011247;AMYH01010267;AY064377;CH471053;NG_009952 AAL62450;EAX00373;Q8NHW5 RPLP0_2_209 pseudo 36404 INFERRED 2304802 RPLP1P10 ribosomal protein, large, P1 pseudogene 10 10 10 10 q11 54114222 54114550 - 60848456 60848784 - 60848456 60848784 - 19123937 100271346 ABBA01019444;AC016398;AMYH01002766;NG_011249 RPLP1_6_1047 pseudo 35509 INFERRED 1343443 RPLP1P1 ribosomal protein, large, P1 pseudogene 1 14 14 14 q24.3 57473472 57474100 + 76504499 76505666 + 77434898 77435526 + 19123937 145499 ABBA01030664;AC007686;AMYH01005873;NG_002526 RPLP1_4_1394 pseudo 19793 INFERRED 1352288 RPL7L1 ribosomal protein L7-like 1 6 6 6 p21.1 44399935 44406997 + 42955649 42962709 + 42847671 42854731 + 6480464 21145461;17353931;15489334;14702039;14574404;12477932;17207965;21139048;21890473;22178446;23314748 285855 B7Z652;Q6DKI1;R4GMU7 ABBA01050708;ABBA01050709;AK021904;AK291310;AK291949;AK299816;AL035587;AMYH01016309;BC036861;BC058020;BC064519;BC073890;CH471081;HI574016;NM_198486 AAH58020;AAH73890;ACE86942;ACE87630;ADQ31929;BAF83999;BAF84638;BAG51057;BAH13138;CBX47497;EAX04104;EAX04105;EAX04106;NP_940888;Q6DKI1 Hs.520133 5015961;5022578;5124377 D15S1477;D1S1423;RH79851 MGC62004;dJ475N16.4 60S ribosomal protein L7-like 1;OTTHUMP00000016410;OTTHUMP00000195524 protein-coding 21370 18000 PROVISIONAL 2305668 RPLP1P11 ribosomal protein, large, P1 pseudogene 11 17 17 17 p12 15850827 15851331 + 15888660 15888996 + 15947806 15948310 + 19123937 100131087 ABBA01035665;AC002553;AMYH01008146;NG_010056 RPLP1_5_1519 pseudo 36196 INFERRED 2305582 RPLP1P12 ribosomal protein, large, P1 pseudogene 12 19 19 19 q13.42 51319821 51320277 + 58970665 58970954 + 54278724 54279180 + 19123937 646566 ABBA01068200;AC008753;AMYH01009965;NG_010867 RPLP1_6_1670 pseudo 36858 INFERRED 6481215 RPLP1P13 ribosomal protein, large, P1 pseudogene 13 13 23947562 23948155 + 100874124 ABBA01007874;AL157766;AMYH01004969;NG_032385 pseudo 41973 INFERRED 2304625 RPLP1P2 ribosomal protein, large, P1 pseudogene 2 1 1 1 q43 214418171 214418629 - 239155229 239228321 + 241161709 241162167 - 19123937 729138 ABBA01033245;AL590682;AMYH01001875;NG_006638 2153403;5094134 G54565;SHGC-30220 RPLP1_2_185 pseudo 36210 INFERRED 2304401 RPLP1P3 ribosomal protein, large, P1 pseudogene 3 1 1 1 q24.3 144903149 144903499 - 170060374 170060724 - 171793751 171794101 - 19123937 127099 ABBA01027923;AL031864;AMYH01001497;NG_010637 RPLP1_1_124 pseudo 36870 INFERRED 2305535 RPLP1P4 ribosomal protein, large, P1 pseudogene 4 2 2 2 q31.1 170674758 170675292 - 176773825 176790126 - 177065599 177066109 - 19123937 100129028 ABBA01062220;AC016739;AMYH01011292;NG_009587 RPLP1_3_298 pseudo 36939 INFERRED 2305560 RPLP1P5 ribosomal protein, large, P1 pseudogene 5 2 2 2 p24.3 15927623 15928093 + 15927514 15927831 + 16009934 16010404 + 19123937 130678 AC113608;AMYH01010134;CH471053;NG_010614 EAX00892 RPLP1_1_196 pseudo 35842 INFERRED 2304387 RPLP1P6 ribosomal protein, large, P1 pseudogene 6 5 5 5 q33.1 147226812 147227320 - 151125518 151126222 - 151145421 151145929 - 19123937;11181995 729416 ABBA01026261;AC091982;AMYH01015713;CH471062;NG_005982 EAW61665 RPLP1_5_629 pseudo 35809 INFERRED 2305646 RPLP1P8 ribosomal protein, large, P1 pseudogene 8 6 6 6 q23.3 137425599 137426097 + 136726960 136727293 + 136685138 136685636 + 19123937 100128745 ABBA01025828;AL023284;AMYH01016696;NG_011205 RPLP1_2_758 pseudo 36104 INFERRED 2304993 RPLP1P7 ribosomal protein, large, P1 pseudogene 7 5 5 5 q23.2 121920288 121920757 - 125991601 125991909 - 125963671 125964140 - 19123937;11181995 133609 ABBA01068900;AC099513;AMYH01015600;CH471086;NG_006940 EAW48849 RPLP1_4_611 pseudo 36156 INFERRED 2305170 RPLP1P9 ribosomal protein, large, P1 pseudogene 9 8 8 p21-p11.2 25592267 25592600 + 26629313 26629646 + 19123937 100271049 ABBA01005577;AC091675;AMYH01018593;NG_011038;NG_029395 RPLP1_3_885 pseudo 36069 INFERRED 1345554 RPLP2P1 ribosomal protein, large P2, pseudogene 1 6 6 6 p22.1 29538991 29539272 + 28040932 28041213 + 27932953 27933234 + 19123937 442175 ABBA01038012;AL133267;AMYH01016189;CH471081;NG_010333 EAX03128 1791005;7184142 D6S2222 RPLP2_1_671;dJ408B20.3 pseudo 18724 INFERRED 2305586 RPLP2P2 ribosomal protein, large, P2 pseudogene 2 5 5 5 q33.3 153388102 153388543 - 157290804 157291149 - 157358187 157358628 - 19123937 644198 ABBA01044262;AC008677;AMYH01015748;NG_010527 RPLP2_1_633 pseudo 36590 INFERRED 2305659 RPLP2P3 ribosomal protein, large, P2 pseudogene 3 11 11 11 q22.3 104933480 104933935 + 107284328 107284700 + 107779073 107779528 + 19123937 643949 ABBA01039874;AMYH01004017;AP001024;NG_010565 RPLP2_2_1170 pseudo 36494 INFERRED 2304801 RPLP2P4 ribosomal protein, large, P2 pseudogene 4 12 12 12 p11.21 11872553 11872862 + 32050754 32051063 + 32050754 32051063 + 19123937 100271347 ABBA01031731;AC023050;AMYH01004369;NG_011258 RPLP2_3_1225 pseudo 36837 INFERRED 2304800 RPLP2P5 ribosomal protein, large, P2 pseudogene 5 17 17 17 q23.2 54846047 54846523 + 60458957 60459433 + 60458957 60459413 + 19123937 100271348 ABBA01035355;AC008026;AMYH01008543;NG_011348 2145098 D11S4393 RPLP2_4_1568 pseudo 35706 INFERRED 1347599 RPLP0P2 ribosomal protein, large, P0 pseudogene 2 11 11 11 cen-q12 58717910 58742320 + 61139084 61163497 + 61382508 61406921 + 19123937;14702039;12477932;22108332;22118674 113157 ABBA01003203;ABBA01003204;AK095332;AMYH01003680;AP002754;AY672101;BC010523;NR_002775 Hs.502733 1731285;5016596;5019367;5021592;5022463;5037552 D11S734;D12S1979;D3S1673;D8S2279;GDB:631802;PMC120577P1 RPLP0L2;RPLP0_3_1146 pseudo ENSG00000243742 17960 PROVISIONAL 735772 RPL8 ribosomal protein L8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 142192658 142195309 - 145985958 145988609 - 146015154 146017805 - 724582;6480464 7506540 15189156;14567916;16169070;15635413;15592455;15489334;14743216;12962325;12477932;11875025;11790298;9582194;9531480;8722009;21145461;21319273;19449377;21182205;22863883;22939629;16196087;22586326;12777385;18274552;18457437;18781797;19596686;21139048;21890473;21900206;21906983;21987572;17361185;21628590;15064750;23084401;15576338;22505724 6132 E9PKU4;E9PKZ0;E9PP36;G3V1A1;H0YF23;P62917 AB007168;AB061821;ABBA01005195;AF235103;AK289459;AK301073;AK309619;AMYH01019163;BC000047;BC000077;BC012197;BC013104;BC030151;BC093064;BT007379;CH471162;CR457046;NM_000973;NM_033301;Z28407 AAH00047;AAH00077;AAH12197;AAH13104;AAH93064;AAP36043;ABM84235;ABW03354;BAA25829;BAB79459;BAF82148;BAG62679;CAA82248;CAG33327;EAW82047;EAW82048;EAW82049;EAW82050;EAW82051;EAW82052;EAW82053;EAW82054;NP_000964;NP_150644;P62917 Hs.178551 1655338;1735180;2140874;2186859 D3S2824E;D3S4174;STS-Z28407;UniSTS:70780 L8 60S ribosomal protein L8;OTTHUMP00000229065;OTTHUMP00000229066;OTTHUMP00000229067;OTTHUMP00000229068;OTTHUMP00000229069;OTTHUMP00000229071;OTTHUMP00000229072 APPROVED protein-coding ENSG00000161016 10368 16044 604177 REVIEWED 736467 RPL9 ribosomal protein L9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 p13 39893571 39898396 - 39132139 39136963 - 39455744 39460568 - 1580863;6480464 8597601;15189156;18029348;14567916;16341674;16189514;15635413;15489334;12477932;11790298;9582194;8722009;8415001;16169070;21145461;21182205;22939629;12962325;16196087;22586326;12777385;18274552;18457437;20972266;21081666;21139048;21890473;21906983;21987572;22178446;21628590;19738201;19805454;21963094;22623428;23000965;23246001;23398456;22505724;22944692 6133 D6RAN4;E7ESE0;H0Y9R4;H0Y9V9;P32969;Q53Z07 AB007169;AB062431;ABBA01004125;AC021148;AK130966;AK297178;AK303908;AK312241;AL832047;AMYH01014119;AY320412;AY376242;AY597415;BC000483;BC004156;BC004206;BC007967;BC012149;BC031906;BC066318;BC070214;BC100285;BG829769;BM841336;BQ286041;CH471069;D14531;D16961;NG_032111;NM_000661;NM_001024921;U09953;U09954;U21138 AAA63752;AAB01040;AAB01041;AAH00483;AAH04156;AAH04206;AAH07967;AAH12149;AAH31906;AAH66318;AAH70214;AAI00286;AAP73811;AAQ82909;ABM83653;ABM83885;ABM86900;BAA03401;BAA25830;BAB93494;BAG35174;BAG59670;BAG64837;CAH10410;EAW92926;EAW92927;EAW92928;EAW92929;EAW92930;EAW92931;NP_000652;NP_001020092;P32969 Hs.412370;Hs.513083;Hs.730597 1653613;5021155;5124095 D4S3187;RH67836;SHGC-59408 DKFZp313J1510;FLJ27456;L9;MGC15545;NPC-A-16;RPL9P7;RPL9P8;RPL9P9 60S ribosomal protein L9;OTTHUMP00000125205;OTTHUMP00000218426;OTTHUMP00000218427;OTTHUMP00000218428;OTTHUMP00000218429 APPROVED protein-coding ENSG00000163682 10369 04732 603686 REVIEWED 736952 RPLP1 ribosomal protein, large, P1 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 15 15 q22 67532213 67534938 + 69745159 69747884 + 1580863;6480464 3323886;12054647;15189156;18029348;14567916;18422483;17081983;16964243;16807684;16565220;16169070;16097034;16094384;15489334;14997482;14729942;12479870;12477932;11875025;11401437;10856704;8722009;7821789;11277934;21145461;16541025;18675807;19471022;16226712;16341674;21040949;22863883;23106098;12962325;15047060;18781797;20639865;21139048;21693764;21900206;17620599;22586326;21628590;22909382;22939629 6176 H0YL57;P05386 AB061836;ABBA01038768;AC027237;AK026579;AK130958;AMYH01006742;AY303789;BC003369;BC007590;BM745938;CH471082;CR450339;CR542209;D28366;M17886;NM_001003;NM_213725 AAA36471;AAH03369;AAH07590;AAP68820;BAA05732;BAB79474;CAG29335;CAG47005;EAW77843;EAW77844;EAW77845;NP_000994;NP_998890;P05386 Hs.356502 2190785;5020351 D15S1202;RPLP1 FLJ27448;LP1;MGC5215;P1;RPP1 60S acidic ribosomal protein P1;OTTHUMP00000164511;OTTHUMP00000210459;acidic ribosomal phosphoprotein P1 APPROVED protein-coding ENSG00000137818 10372 01611 180520 REVIEWED 1344368 RPLP0 ribosomal protein, large, P0 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 12 12 q24.2 119118886 119123397 - 120634503 120639014 - 1580863;6480464 8895530;3323886;15303970;15189156;18029348;14567916;18364388;17621266;17081983;16807684;16565220;16541075;16169070;15592455;15489334;15336536;15302935;15231748;15121898;14729942;14702039;12479870;12477932;11790298;11401437;10856704;9847074;9582194;8722009;8125298;7821789;6182142;1602151;11277934;21145461;21319273;17289661;17643375;19710015;19188445;16055720;20705598;21040949;20308691;21182205;22863883;22939629;12962325;16196087;15047060;18259216;15161933;18781797;19287380;21081666;21139048;21726808;21890473;21906983;21942715;21963094;21987572;22108332;22118674;17361185;21575865;21628590;17620599;22586326;19380743;21853274;22053931;22505724;22797925 6175 F8VPE8;F8VQY6;F8VRK7;F8VS58;F8VU65;F8VW21;F8VWS0;F8VWV4;F8VYN4;F8VZS0;F8W1K8;G3V210;P05388;Q3B7A4 AB007187;ABBA01020098;AC004263;AF274958;AK001313;AK129754;AK129823;AK222468;AK222571;AK291109;AK304674;AMYH01004798;BC000087;BC000345;BC000752;BC001127;BC001834;BC003655;BC005863;BC008092;BC008594;BC009867;BC015173;BC015690;BC019014;BC070194;BC104645;BC107717;BF131912;CH471054;D28418;M17885;NM_001002;NM_053275;Z36785 AAA36470;AAC05176;AAH00087;AAH00345;AAH00752;AAH01127;AAH01834;AAH03655;AAH05863;AAH08092;AAH08594;AAH09867;AAH15173;AAH15690;AAH70194;AAI04646;AAI07718;AAK07533;ABM82739;ABM85922;BAA05784;BAA25845;BAD96188;BAD96291;BAF83798;BAG65447;EAW98170;EAW98171;EAW98172;EAW98173;EAW98174;NP_000993;NP_444505;P05388 Hs.546285 1792452;1795154;1851073;2116473;5018953;5019367;5021592 A007I44;D12S1979;G42236;PMC120577P1;PMC151625P1;PMC99906P1;RP_P0_1 L10E;LP0;MGC111226;MGC88175;P0;PRLP0;RPP0 60S acidic ribosomal protein P0;60S ribosomal protein L10E;OTTHUMP00000240766;OTTHUMP00000240767;OTTHUMP00000240768;OTTHUMP00000240776;OTTHUMP00000240777;OTTHUMP00000240826;OTTHUMP00000240834;acidic ribosomal phosphoprotein P0 APPROVED protein-coding ENSG00000089157 10371 01610 180510 REVIEWED 735289 RPLP2 ribosomal protein, large, P2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 p15.5 799936 802876 + 809936 812876 + 1580863;6480464 14567916;18422483;17081983;16964243;16920697;16807684;16565220;15635413;15489334;15146197;14997482;14981896;14729942;12479870;12477932;12379128;11875025;11401437;10856704;10508479;8722009;8076819;7821789;2153399;1286669;3323886;15189156;21145461;21319273;20385603;18675807;21040949;12962325;16196087;20000738;22863883;19135240;15161933;21410706;17620599;22586326;20972266;21139048;21890473;21906983;20639865;19471022;21628590;22909382;22939629;22053931;22505724 6181 H0YDD8;P05387 AB061837;ABBA01015211;AK311954;AMYH01003295;AP006621;BC005354;BC005920;BC007573;BC062314;CH471158;CN270352;CR542212;CR542248;D17005;D17174;D28411;M17887;NM_001004 AAA36472;AAH05354;AAH05920;AAH07573;AAH62314;BAA05777;BAB79475;BAG34894;CAG47008;CAG47044;EAX02393;EAX02394;NP_000995;P05387 Hs.437594 2138328;2145098 D11S2243E;D11S4393 D11S2243E;LP2;MGC71408;P2;RPP2 60S acidic ribosomal protein P2;OTTHUMP00000164440;OTTHUMP00000229016;OTTHUMP00000229975;acidic ribosomal phosphoprotein P2;renal carcinoma antigen NY-REN-44;ribosomal protein, large p2 APPROVED protein-coding 10377 01612 180530 REVIEWED 731637 RPN1 ribophorin I This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008] 3 3 q21.3 129821503 129852409 - 128338813 128369719 - 1580863;6480464;6907045 15835887;17353931;19167329;18607003;17081065;16713569;21145461;15489334;12887896;12643545;12477932;12200120;12198498;10737800;9307271;8125298;3034581;12840049;10660554;16169070;16990800;19064571;19596235;19615732;22939629;22988243;16335966;19706418;21182205;22990118;16196087;17314511;17558393;18781797;19815544;19818707;21081666;21139048;21890473;21906983;21987572;20305087;18711132;22318606;18264092;19322201;20473970;10588643;22268729;22505724;22797925;23383273;19738201;21963094;22190034;22304920;22678362;22751105;23000965;23246001;23314186;23606741 6184 B7Z4L4;F8WF32;P04843 ABBA01020902;AC079945;AK223595;AK296905;AK297513;AK297941;AK312369;AMYH01013464;BC007995;BC010839;BF930946;BG720812;CH471052;CQ834258;CQ834296;CR456742;CR749284;NM_002950;Y00281 AAH07995;AAH10839;ADZ15548;BAD97315;BAG35287;BAG59461;BAG60257;BAH12600;CAA68392;CAG33023;CAH05344;CAH05363;CAH18139;EAW79306;EAW79307;EAW79308;EAW79309;NP_002941;P04843 Hs.518244;Hs.603636 1741463;2119126;2154662;2160589 D3S3891;GDB:181226;RH11540;RH48451 DKFZp686B16177;OST1;RBPH1 OTTHUMP00000216245;OTTHUMP00000216575;RPN-I;dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1;dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit;oligosaccharyltransferase 1 homolog;oligosaccharyltransferase complex subunit (non-catalytic);ribophorin-1 APPROVED protein-coding ENSG00000163902 10381 01598 180470 REVIEWED 1313231 RPP25 ribonuclease P/MRP 25kDa subunit 15 15 15 q24.2 52197836 52200168 - 73034496 73036828 - 75247443 75249775 - 737633;1580863;6480464;6907045 12477932 15096576;16344560;15489334;14702039;12003489;20215441;17207965;20632321;22863883;21044950;18029348 54913 Q9BUL9 ABBA01060511;AC015720;AK000381;AMYH01006797;AY034074;BC002497;BC007270;BE254727;CH471136;DA041068;NM_017793 AAH02497;AAH07270;AAK54443;ADQ32678;BAA91128;EAW99285;EAW99286;NP_060263;Q9BUL9 Hs.8562 2146627;2167259 D15S1180;D15S1353 FLJ20374 OTTHUMP00000183483;RNase P protein subunit p25;ribonuclease P protein subunit p25 protein-coding 30361 15276 VALIDATED 1313464 RPP14 ribonuclease P/MRP 14kDa subunit 3 3 3 p14.3 58306525 58320475 + 58267012 58280960 + 58291972 58305920 + 1580863;6480464 10024167;15096576;16344560;15635413;15489334;15342556;15146197;14702039;12477932;11929972;11455963;11181995;11158571;16169070;22318606;19322201;21900206;21139048 11102 O95059;P86397 ABBA01024389;ABBA01024390;AC098479;AF001175;AI566526;AK311396;AK311969;AMYH01013228;AMYH01013229;AV760694;BC002441;BC007342;BC012017;BP352444;BP352480;CD698741;CH471055;CN354601;CR407611;DA040251;DC303206;DC360931;NM_001098783;NM_007042;NR_049755;NR_049756;NR_049757;NR_049758 AAD00892;AAH02441;AAH07342;AAH12017;ADZ15714;BAG34908;CAG28539;NP_001092253;NP_008973;O95059 Hs.446320;Hs.700016 1651101;1698736;1849105;2219652;5015551;5037552 D3S4258;D8S2279;RH102930;RH36448;RPP14__5526;STS-W15453 FLJ31508;P14 OTTHUMP00000214187;OTTHUMP00000214188;OTTHUMP00000214189;ribonuclease P (14kD);ribonuclease P protein subunit p14 protein-coding ENSG00000163684 30327 18001 606112 VALIDATED 6481179 RPP40P1 ribonuclease P/MRP 40kDa subunit pseudogene 1 X 25609539 25609934 - 100874225 ABBA01072443;AC112918;AMYH01022168;NG_032356 pseudo 39769 INFERRED 1346051 RPP21 ribonuclease P/MRP 21kDa subunit RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009] 6 6 6 p22.1 31911132 31912827 + 30420916 30422611 + 30312906 30314635 + 6480464 15096576;17601797;15489334;14702039;12477932;11497433;11455963;16344560;18291362;19851445;17207965;21906983 79897 B0S836;Q5JPM0;Q5JPM3;Q5STG2 ABBA01038041;AF212152;AJ504713;AJ504714;AJ504715;AJ504716;AK026291;AL662795;AL662832;AL773535;AMYH01016204;BC011730;BG708140;BI598757;BX294158;BX927214;CH471081;CR759281;CR759928;DA270919;NM_001199120;NM_001199121;NM_024839 AAH11730;AAK39955;ADQ32798;BAB15433;CAD44289;CAD44290;CAD44291;CAD44292;EAX03287;EAX03288;EAX03289;NP_001186049;NP_001186050;NP_079115;Q9H633 Hs.183232 5016785 RH94264 C6orf135;CAT60;FLJ22638 OTTHUMP00000029321;OTTHUMP00000029323;OTTHUMP00000163580;OTTHUMP00000163581;RNaseP protein p21;ribonuclease P protein subunit p21;ribonuclease p 21kda subunit;ribonucleoprotein V APPROVED protein-coding ENSG00000241370 21300 15275 612524 VALIDATED 5130583 RPP40P2 ribonuclease P/MRP 40kDa subunit pseudogene 2 13 13 40795499 40796047 + 59836979 59837527 + 100420608 ABBA01036999;AL159156;NG_024931 pseudo 39770 INFERRED 1344011 RPPH1 ribonuclease P RNA component H1 H1RNA is the RNA component of the RNase P ribonucleoprotein, an endoribonuclease that cleaves tRNA precursor molecules to form the mature 5-prime termini of their tRNA sequences (Baer et al., 1989 [PubMed 2308839]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 672376 672716 - 19881070 19881410 - 20811230 20811570 - 6480464 7916700;2470644;2308839;15096576;10737800 85495 ABBA01061225;AL355075;AMYH01005586;CA413366;CV309337;DW429001;NR_002312;X15624;X16612 Hs.613102 H1RNA;RPPH1-1 APPROVED miscrna ENSG00000252678 19273 608513 VALIDATED 732277 RPN2 ribophorin II This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 20 20 q12-q13.1 35240888 35303440 + 35807456 35870026 + 1580863;6480464;6907045 15835887;17220478;17353931;10660554;15489334;14702039;12887896;12665801;12477932;11780052;10737800;9642163;3034581;2066112;1301181;16169070;21145461;18029348;16990800;18724378;19549781;19615732;19617345;19668339;20379614;20471946;20562859;22939629;21182205;16196087;17314511;17558393;20000738;18781797;21081666;21139048;21693764;21890473;21900206;21906983;21987572;17620599;21857022;22354994;22586326;20473970;21628590;22268729 6185 F2Z3K5;H0Y5M1;P04844;Q5JYR3;Q5JYR4;Q5JYR7 ABBA01006615;ABBA01006616;ABBA01006617;AJ237734;AK096243;AK296126;AK308683;AK315801;AL031659;AMYH01011895;BC002380;BC003560;BC013028;BC020222;BF923732;BG718075;CH471077;CR456899;DB449190;NM_001135771;NM_002951;Y00282 AAH02380;AAH03560;AAH13028;AAH20222;ABM83273;ABM86478;BAG38143;BAG53237;BAG58872;CAA68393;CAB54801;CAG33180;EAW76073;EAW76074;EAW76075;EAW76076;EAW76077;NP_001129243;NP_002942;P04844 Hs.370895 1645848;1669658;1670851;1691364;1691368;1768785 AL031791;AL031793;D20S730;D20S757;RH36470;RH64128 RIBIIR;RPN-II;RPNII;SWP1 OTTHUMP00000030900;OTTHUMP00000030902;dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2;oligosaccharyltransferase complex subunit (non-catalytic);ribophorin 2;ribophorin-2 2316342 GLUCO236_H APPROVED protein-coding ENSG00000118705 10382 01609 180490 REVIEWED 1315272 RPP25L ribonuclease P/MRP 25kDa subunit-like This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 34541995 34543604 - 34600492 34602101 - 34610482 34612110 - 6480464 15489334;15164053;12477932;21145461;17207965;17213182;21139048;21890473;16998185 138716 Q8N5L8 ABBA01065009;AI016726;AL160270;AL528391;AMYH01019338;BC032136;BQ021160;BQ224958;CH471071;CS072470;DT218980;NM_148178;NM_148179 AAH32136;ADQ32255;CAI93608;EAW58443;EAW58444;NP_680544;NP_680545;Q8N5L8 Hs.15961 1684536;1848229;1848948;2117452;2177562;5093718 A009V29;Bdac7f05;G32883;RH36230;RH41883;WI-14194 C9orf23;MGC29635;bA296L22.5 OTTHUMP00000000513;OTTHUMP00000000514;RNase P protein subunit-like p25;alba-like protein C9orf23;ribonuclease P protein subunit p25-like protein;rpp25-like protein APPROVED protein-coding ENSG00000164967 19909 12948 VALIDATED 1350669 RPRM reprimo, TP53 dependent G2 arrest mediator candidate 2 2 2 q23.3 147948311 147949781 - 154042098 154043568 - 154333852 154335322 - 737633;1580863;6480464;6907045 12477932 22562171;17353931;10930422;18829507;18197409;16752411;16303743;12395409;19917725;17207965;20949468;19322201;23312294 56475 Q9NS64 AA452090;AB043585;ABBA01004801;AC012501;AK074808;AK311958;AMYH01011182;BC002908;CH471058;CQ782742;NM_019845 AAH02908;AAY14783;ADQ32830;BAB01513;BAG34898;BAG52007;CAF85975;EAX11467;NP_062819;Q9NS64 Hs.100890 1648764;2163129 RH66328;WI-18554 FLJ90327;REPRIMO OTTHUMP00000162732;candidate mediator of the p53 dependent G2 arrest;candidate mediator of the p53-dependent G2 arrest;protein reprimo;reprimo, TP53 dependant G2 arrest mediator candidate protein-coding ENSG00000177519 24201 18002 612171 VALIDATED 1321008 RPP40 ribonuclease P/MRP 40kDa subunit 6 6 6 p25.1 6224004 6232997 - 4940279 4949270 - 4995280 5004271 - 1580863;6480464;6907045 15096576;9630247;12477932;8889548;22863883;22939629;21053045;21139048 10799 F8WC38;O75818 ABBA01022004;AL359643;AMYH01016048;BC017871;BG430780;BU607286;CH471087;NM_006638;U94317 AAC24114;AAH17871;EAW55170;EAW55171;EAW55172;EAW55173;EAW55174;NP_006629;O75818 Hs.511756 1647957 RH47442 RNASEP1;bA428J1.3 OTTHUMP00000015982;OTTHUMP00000015983;OTTHUMP00000213852;RNase P subunit 1;RNaseP protein p40;ribonuclease P (40 kD);ribonuclease P 40kDa subunit;ribonuclease P protein subunit p40;ribonuclease P, 40kD subunit;ribonuclease P1 protein-coding ENSG00000124787 20992 09361 606117 VALIDATED 1605654 RPRD1A regulation of nuclear pre-mRNA domain containing 1A P15RS is upregulated in cells overexpressing cyclin-dependent kinase inhibitor p15(INK4b) (CDKN2B; MIM 600431) and may have a role in cell cycle regulation (Liu et al., 2002 [PubMed 12470661]).[supplied by OMIM, Mar 2008] 18 18 18 q12.2 30377670 30455253 - 31823789 31901371 - 33569791 33647373 - 6480464 22580456;14702039;12477932;12470661;20739273;22863883;22990118;19471022;21139048;22231121;22118674;19322201 55197 K7EP82;K7EQR8;K7ER50;Q96P16 ABBA01022435;AC091060;AF419845;AK001518;AK292907;AK314569;AMYH01008938;BC000225;BC010136;CH471088;NM_018170 AAH00225;AAH10136;AAL15972;ABM83836;ABW03521;BAA91736;BAF85596;BAG37150;EAX01365;EAX01366;EAX01367;EAX01368;EAX01369;EAX01370;NP_060640;Q96P16 Hs.464912 1668380;1686784;1691280;1796442;2143382;2181698 P15RS_1703;RH47092;RH80213;RH99173;SGC38081;WIAF-1571 FLJ10656;HsT3101;MGC19513;P15RS Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein);OTTHUMP00000163414;cyclin-dependent kinase 2B-inhibitor-related protein;p15INK4B-related protein;regulation of nuclear pre-mRNA domain-containing protein 1A APPROVED protein-coding ENSG00000141425 25560 10134 610347 PROVISIONAL 1348476 RPS10P1 ribosomal protein S10 pseudogene 1 6 6 p21 27431654 27432245 + 26202351 26202943 + 19123937 394255 ABBA01066554;AL031777;AMYH01016162;NG_029345 2138536 RH66549 RPS10_7_669;RPS10p;dJ34B20.13 pseudo 13981 INFERRED 1316690 RPP38 ribonuclease P/MRP 38kDa subunit 10 10 10 p13 15067814 15074888 + 15179188 15186262 + 15139179 15146256 + 6480464;6907045 15096576;17474147;9630247;15635413;15489334;15164054;14702039;12477932;11455963;10444065;9037013;8125298;15342556;17207965;16385451;22863883;21139048;21907836 10557 P78345;Q5VUC3;Q5VUC9 ABBA01034598;ABBA01034599;AF079567;AK057006;AK223418;AL590365;AMYH01002055;AW292674;BC029494;BP247818;BU180901;BU197354;CH471072;CR541816;CX787861;CX872398;NM_001097590;NM_001265601;NM_006414;NM_183005;U77664 AAC51142;AAH29494;ADQ31649;BAD97138;BAG51842;CAG46615;EAW86240;EAW86241;NP_001091059;NP_001252530;NP_006405;NP_892117;P78345 Hs.94986 1646029;2168408 RH71259;SHGC-58408 RP11-455B2.5 OTTHUMP00000019200;OTTHUMP00000019201;OTTHUMP00000019202;OTTHUMP00000019204;RNaseP protein p38;ribonuclease P (38kD) (RPP38);ribonuclease P protein subunit p38 protein-coding ENSG00000152464 30329 09360 606116 VALIDATED 2305821 RPS10P10 ribosomal protein S10 pseudogene 10 3 3 3 p14.2 62930017 62930602 + 62886941 62887626 + 62912018 62912603 + 19123937 389127 ABBA01024326;AC096915;AMYH01013242;NG_010006 RPS10_4_378 pseudo 37034 INFERRED 2305701 RPS10P11 ribosomal protein S10 pseudogene 11 5 5 5 q31.1 129882304 129882569 + 133786415 133786680 + 133758516 133758781 + 19123937 391833 ABBA01068760;AC109454;AMYH01015624;NG_010811 RPS10_6_615 pseudo 36775 INFERRED 2305123 RPS10P12 ribosomal protein S10 pseudogene 12 5 5 5 q11.1 47517703 47518266 + 50606844 50607325 + 50571051 50571614 + 19123937 133569 ABBA01015706;AC026798;AMYH01015075;NG_011000 1747931 G66859 RPS10_5_559 pseudo 36662 INFERRED 2305506 RPS10P13 ribosomal protein S10 pseudogene 13 6 6 6 p21.31 36266371 36266949 + 34819894 34820485 + 34711917 34712495 + 19123937 646785 ABBA01038201;AL139100;AMYH01016261;NG_010670 RPS10_8_685 pseudo 36374 INFERRED 2305359 RPS10P14 ribosomal protein S10 pseudogene 14 7 7 7 p14.1 37399530 37400110 + 37381646 37382151 + 37415096 37415676 + 19123937 646942 AACC02000036;ABBA01056915;AC078843;AMYH01017186;CH236951;NG_009425 RPS10_9_805 pseudo 35880 VALIDATED 2305466 RPS10P15 ribosomal protein S10 pseudogene 15 7 7 7 q32.1 123014327 123014857 - 127997468 127998277 - 128210249 128210779 - 19123937 654029 ABBA01057663;AC090114;AMYH01017921;NG_011064 RPS10_3_844 pseudo 35860 INFERRED 2305169 RPS10P16 ribosomal protein S10 pseudogene 16 8 8 q24.11 114724176 114724685 - 118535456 118535965 - 19123937 100271050 ABBA01037798;AC024329;AMYH01018983;NG_011043 RPS10_4_945 pseudo 36200 INFERRED 2305841 RPS10P17 ribosomal protein S10 pseudogene 17 9 9 9 q33.3 98673788 98674353 - 127065682 127066253 - 128025815 128026381 - 19123937 645857 ABBA01043778;AL354710;AMYH01021710;NG_011162 RPS10_5_1013 pseudo 35562 INFERRED 2304799 RPS10P18 ribosomal protein S10 pseudogene 18 10 10 10 q26 119952632 119953017 - 126178762 126179147 - 126178762 126179147 - 19123937 100271349 ABBA01034145;AL445237;AMYH01003154;NG_011271 RPS10_6_1108 pseudo 36239 INFERRED 2304798 RPS10P19 ribosomal protein S10 pseudogene 19 11 11 11 p11.2 46598212 46598771 - 46450143 46450702 - 46450143 46450902 - 19123937 100271350 ABBA01060745;AC024293;AMYH01003535;NG_011275 RPS10_7_1142 pseudo 35907 INFERRED 1351811 RPS10P2 ribosomal protein S10 pseudogene 2 20 20 20 p12 14813227 14813812 + 14686109 14686802 + 14738179 14738764 + 19123937 140758 ABBA01053989;AL118510;AMYH01011728;NG_001001 RPS10_15_1685;dJ858M22.1 pseudo 16594 INFERRED 2304560 RPS10P20 ribosomal protein S10 pseudogene 20 12 12 12 q13 47677728 47678302 + 48881696 48882270 + 48881696 48882270 + 19123937 100271547 ABBA01031481;AC089987;AMYH01004432;NG_010964 1714429 RH120207 RPS10_11_1233 pseudo 35829 INFERRED 2304797 RPS10P21 ribosomal protein S10 pseudogene 21 13 13 13 q21.33 53386521 53386995 - 72487840 72488314 - 72487840 72488314 - 19123937 100271351 ABBA01050328;AL445923;AMYH01005197;NG_011279 RPS10_8_1322 pseudo 35906 INFERRED 2305554 RPS10P22 ribosomal protein S10 pseudogene 22 15 15 15 q22.2 37585251 37585838 + 58483943 58484451 + 60696618 60697205 + 19123937 401817 ABBA01038950;AC087385;AMYH01006691;NG_010809 RPS10_12_1442 pseudo 35814 INFERRED 1604446 RPRML reprimo-like 17 17 17 q21.32 41505036 41506130 - 42410521 42411613 - 45055522 45056614 - 6480464 12477932 388394 Q8N4K4 ABBA01041108;AC005670;AMYH01008444;BC033942;BC108690;CH471231;NM_203400 AAH33942;AAI08691;EAW57693;NP_981945;Q8N4K4 Hs.367999 MGC131790;MGC43894 reprimo-like protein protein-coding ENSG00000179673 32422 14201 VALIDATED 2305879 RPS10P23 ribosomal protein S10 pseudogene 23 16 16 q23.1 73143650 73144145 + 74586112 74586690 + 19123937 645713 ABBA01058101;AC009153;AMYH01007812;NG_011365 RPS10_13_1498 pseudo 36657 INFERRED 2304498 RPS10P24 ribosomal protein S10 pseudogene 24 16 16 q22.1 68670507 68671028 - 70112986 70113564 - 19123937 645299 ABBA01000843;AC009022;AMYH01007778;NG_009469 1727579 G63198 RPS10_9_1493 pseudo 35989 VALIDATED 2304561 RPS10P25 ribosomal protein S10 pseudogene 25 17 17 17 q21 43679695 43680142 - 47225701 47226148 - 47225701 47226148 - 19123937 100271546 ABBA01041190;AC069454;AMYH01008460;NG_010960 1826366 ECD14296 RPS10_10_1555 pseudo 36532 INFERRED 2304611 RPS10P28 ribosomal protein S10 pseudogene 28 19 19 19 q13.2 39974466 39975348 + 47865997 47866838 + 43174130 43175013 + 19123937 100132372 ABBA01040854;AC005204;AMYH01009834;NG_010093 RPS10_14_1658 pseudo 35511 INFERRED 2305101 RPS10P27 ribosomal protein S10 pseudogene 27 18 18 18 q11.2 18068340 18068921 - 19506212 19506710 - 21252168 21252749 - 19123937 100129556 ABBA01022627;AC067796;AMYH01008887;NG_010092 RPS10_12_1588 pseudo 36850 INFERRED 1321878 RPP30 ribonuclease P/MRP 30kDa subunit 10 10 10 q23.31 86378161 86414769 + 92621689 92658292 + 92631709 92668312 + 1580863;6480464;6907045 15096576;9630247;17081983;17033964;16344560;15635413;15489334;15164054;14702039;12477932;11455963;9308968;9037013;8889548;8125298;21145461;16385451;19454010;21163940;22863883;22939629;22990118;17314511;21963094;23000965;23667531;21139048;21693764;21890473;21906983;22566634 10556 P78346;Q5VU10;Q5VU11 ABBA01021931;AK095810;AK225532;AK296196;AK312900;AL360011;AL590622;AL833628;AMYH01002938;BC006991;BC044601;BM978236;CH471066;DB049454;NM_001104546;NM_006413;U77665 AAC51143;AAH06991;ABM84107;ABM87487;BAG35746;BAG58925;EAW50117;NP_001098016;NP_006404;P78346 Hs.139120 1674079;1715621;1847208;1849654;2136701;5022651;5037552 A007J42;D11S2921;D8S2279;RH119253;SGC30252;SHGC-37185;STS-N37073 FLJ38491;RP11-320F15.1;TSG15 OTTHUMP00000020081;OTTHUMP00000020082;OTTHUMP00000020083;RNase P subunit 2;RNaseP protein p30;ribonuclease P (30kD) (RPP30);ribonuclease P protein subunit p30 protein-coding ENSG00000148688 17688 09359 606115 VALIDATED 2311476 RPS10P29 ribosomal protein S10 pseudogene 29 22 22 22 q11.23 8465642 8466495 - 22995314 22996100 - 24665251 24666173 - 388885 ABBA01055134;ABBA01055135;AMYH01012663;AP000354;NG_009906;NG_031915 pseudo 37120 INFERRED 2305708 RPS10P30 ribosomal protein S10 pseudogene 30 22 22 22 q11.23 7479174 7479630 - 21994764 21995090 - 23664657 23665114 - 19123937 343851 ABBA01055106;AMYH01012641;AP000343;NG_010234 1784514 SHGC-170333 RPS10_14_1741 pseudo 35593 INFERRED 1602177 RPS10P3 ribosomal protein S10 pseudogene 3 9 9 9 q22.1 61196901 61197489 + 89818991 89821608 + 90631177 90631765 + 19123937 158104 ABBA01016505;AL353572;AMYH01021486;NG_009716 RPS10_10_994 pseudo 23684 INFERRED 2304617 RPS10P31 ribosomal protein S10 pseudogene 31 22 22 22 q13.31 29582880 29583483 + 44050144 44050630 + 45671408 45672016 + 19123937 100129939 ABBA01007133;AL008718;AMYH01012849;NG_010775 RPS10_16_1758 pseudo 35998 INFERRED 2303440 RPS10P4 ribosomal protein S10 pseudogene 4 3 3 3 q13.31 111977693 111978275 - 115051773 115052298 - 113569035 113569617 - 19123937 728791 ABBA01061646;AC079944;AMYH01013398;NG_009545 RPS10_2_393;bcm1851 pseudo 31364 INFERRED 1312424 RPRD1B regulation of nuclear pre-mRNA domain containing 1B 20 20 20 q11.21-q12 33369018 33427835 + 36095362 36154180 + 36661948 36720766 + 6480464 16189514;15489334;15342556;15302935;14702039;12477932;11780052;22863883;22990118;22231121;21139048;22264791;21044950 58490 A2A2M0;E9PIQ9;E9PQF3;Q9NQG5 ABBA01006636;ABBA01006637;AK092567;AK126484;AK312468;AL080224;AL109823;AL117521;AMYH01011902;AMYH01011903;BC001696;BC020939;BC033629;BP359144;CH471077;DQ372938;NM_021215 AAH01696;AAH33629;ABD34791;BAG35375;CAH10720;EAW76045;EAW76046;NP_067038;Q9NQG5 Hs.743297 1712985;1753275;2143446;2176527;2183138;7187985 A002U21;RH120583;SHGC-80717;WI-22173;Z94355 C20orf77;CREPT;DKFZp434P0735;FLJ44520;NET60;dJ1057B20.2 OTTHUMP00000030953;cell cycle-related and expression-elevated protein in tumor;cell-cycle related and expression-elevated protein in tumor;regulation of nuclear pre-mRNA domain-containing protein 1B protein-coding ENSG00000101413 16209 08513 614694 VALIDATED 2304407 RPS10P6 ribosomal protein S10 pseudogene 6 1 1 q21.3 149795934 149797102 + 151529885 151530463 + 19123937 729374 AL365436;AMYH01001389;NG_010156 1826366;1927568;1927570;1927572;1927574;1927576;1927578;1927580;1927582;1927584;1927586;1927588;1927590;1927592;1927594;2207900 ECD14296;REN34610;REN34611;REN34612;REN34613;REN34614;REN34615;REN34616;REN34617;REN34618;REN34619;REN34620;REN34621;REN34622;REN34623;stSG627283 RPS10_1_98 pseudo 35765 INFERRED 2304559 RPS10P26 ribosomal protein S10 pseudogene 26 17 17 17 q23 54981382 54981911 - 60593636 60594165 - 60593636 60594165 - 19123937 100271548 ABBA01035348;AC008026;AMYH01008547;NG_010969 RPS10_11_1569 pseudo 36321 INFERRED 2305876 RPS10P8 ribosomal protein S10 pseudogene 8 1 1 1 q23.1 131236437 131237022 - 156431815 156432538 - 158165372 158165957 - 19123937 729780 ABBA01016630;AL138899;AMYH01001443;NG_010935 RPS10_1_104 pseudo 36606 INFERRED 1349242 RPS11P1 ribosomal protein S11 pseudogene 1 20 20 20 p12.2 11396157 11396629 - 11273931 11274603 - 11326031 11326503 - 19123937 128718 ABBA01053944;AL049690;AMYH01011712;NG_000972 RPS11_3_1684;dJ1060K6.1 ribosomal protein s11, pseudogene 1 pseudo 16553 INFERRED 2305809 RPS11P2 ribosomal protein S11 pseudogene 2 1 1 1 q43 214055982 214056516 - 238866514 238869870 - 240799834 240800373 - 19123937 645916 ABBA01033237;AL358176;AMYH01001875;NG_010147 RPS11_1_184 pseudo 37007 INFERRED 2305716 RPS10P9 ribosomal protein S10 pseudogene 9 2 2 2 p14 64738901 64739453 + 64746246 64746739 + 64892705 64893257 + 19123937 730187 ABBA01075424;AC007365;AMYH01010403;NG_010404 RPS10_3_235 pseudo 36451 INFERRED 2305382 RPS11P3 ribosomal protein S11 pseudogene 3 1 1 q21 124845170 124845521 + 151730557 151730908 + 19123937 100270898 ABBA01049404;AL589765;AMYH01001394;NG_010264 RPS11_1_99 pseudo 35870 INFERRED 2305168 RPS11P4 ribosomal protein S11 pseudogene 4 9 9 p21.1 32658276 32658674 - 32727064 32727462 - 19123937 100271052 ABBA01065077;AL157884;AMYH01019320;NG_011054 RPS11_2_972 pseudo 35644 INFERRED 2305682 RPS11P5 ribosomal protein S11 pseudogene 5 12 12 12 q24.33 133101242 133101823 + 131912344 131912918 + 133402267 133402823 + 19123937 727826 ABBA01042544;AC127070;AMYH01004923;NG_009555;NG_029887 1694766 G43591 RPS11_3_1298 pseudo 36312 INFERRED 2304488 RPS11P6 ribosomal protein S11 pseudogene 6 12 12 12 q14.2 64454639 64455629 + 63076057 63077047 + 64789790 64790780 + 19123937 729258 ABBA01026604;AC135279;AMYH01004547;NG_010888 RPS11_2_1249 pseudo 36693 INFERRED 1601883 RPRD2 regulation of nuclear pre-mRNA domain containing 2 1 1 1 q21.3 123452749 123564816 + 148603211 148712674 + 150336990 150449042 + 6480464 15231747;17081983;16964243;16710414;15489334;14702039;12477932;12168954;9455484;16055720;22939629;19471022;21139048;21890473;22321011;22231121;19322201;23080069;22505724 23248 B4E2Q6;Q9P0D7 AB007929;ABBA01049337;ABBA01049338;ABBA01049339;ABBA01049340;ABBA01049341;ABBA01049342;ABBA01049343;AF161362;AK022984;AK026120;AK056707;AK125864;AK291703;AK304380;AK308148;AL356356;AL611942;AMYH01001374;AMYH01001375;AMYH01001376;BC045623;BX284695;BX641025;CH471121;DC369862;NM_015203 AAF28922;AAH45623;ACE86944;ACE86975;ACE87632;ACE87664;BAA32305;BAF84392;BAG51793;BAG65218;CAE46016;EAW53551;EAW53552;EAW53553;EAW53554;EAW53555;NP_056018;Q5VT52 Hs.213666 2116247;2120798;2140514;2153709 99;RH36179;RH47339;RH48650 FLJ32145;HSPC099;KIAA0460 OTTHUMP00000014936;OTTHUMP00000014937;regulation of nuclear pre-mRNA domain-containing protein 2 protein-coding ENSG00000163125 29039 614695 VALIDATED 2304744 RPS11P7 ribosomal protein S11 pseudogene 7 X X X p11.4 43862485 43862995 + 39724680 39725190 + 39724684 39725195 + 19123937 642687 ABBA01046898;AL592164;AMYH01022218;NG_011374 RPS11_4_1771 pseudo 36724 INFERRED 1354074 RPS12P1 ribosomal protein S12 pseudogene 1 14 14 14 q24.2 53493595 53493901 - 72500109 72500615 - 73430455 73430761 - 19123937 326312 ABBA01030777;AL442663;AMYH01005841;NG_002564 2119686 G38238 RPS12_13_1388 pseudo 19787 INFERRED 1352265 RPS10P5 ribosomal protein S10 pseudogene 5 20 20 20 p13 916331 916950 - 767941 768751 - 820044 820663 - 19123937;11780052;22939629;19167051;20639865;21139048;21906983 93144 Q9NQ39 ABBA01053760;AL118502;AMYH01011662;NG_000952 Q9NQ39 RPS10L;RPS10_13_1677;bA371L19.2 pseudo 15795 INFERRED 2305164 RPS12P10 ribosomal protein S12 pseudogene 10 5 5 q31.3 138027565 138027947 + 141946265 141946647 + 19123937 100271056 ABBA01026374;AC005215;AMYH01015667;NG_011078 1801156;1830678;1904420;1904422;1904424;1904426;1904428;1904430;1904432;1904434;1904436;1904438;2204076 ECD01450;ECD16475;REN23013;REN23014;REN23015;REN23016;REN23017;REN23018;REN23019;REN23020;REN23021;REN23022;stSG622829 RPS12_4_622 pseudo 35824 INFERRED 2305690 RPS12P11 ribosomal protein S12 pseudogene 11 6 6 6 q25.1 152280542 152281043 - 151588352 151588841 - 151546663 151547164 - 19123937 442270 ABBA01025650;AL356535;AMYH01016745;NG_010833 RPS12_6_769 pseudo 36042 INFERRED 2305331 RPS12P12 ribosomal protein S12 pseudogene 12 6 6 6 p22.3 19191801 19192174 + 18061779 18062152 + 17953800 17954173 + 19123937 100131761 ABBA01022229;AL023807;AMYH01016120;NG_010922;NG_029766 1715513 RH120979 RPS12_5_662 pseudo 36235 INFERRED 2305163 RPS12P13 ribosomal protein S12 pseudogene 13 6 6 q21 109923448 109923832 - 109177556 109177940 - 19123937 100271057 ABBA01026141;AL445189;AMYH01016580;NG_011081 RPS12_5_735 pseudo 36549 INFERRED 2305162 RPS12P14 ribosomal protein S12 pseudogene 14 6 6 p12 49086356 49086864 + 47530271 47530779 + 19123937 100271058 ABBA01050606;AL358178;AMYH01016332;NG_011085 RPS12_6_698 pseudo 35632 INFERRED 2305161 RPS12P15 ribosomal protein S12 pseudogene 15 8 8 q22.3 99700948 99701331 + 103515983 103516366 + 19123937 100271059 ABBA01037614;AMYH01018936;AP002852;NG_011090 1753637 SHGC-107548 RPS12_7_934 pseudo 35610 INFERRED 2304796 RPS12P16 ribosomal protein S12 pseudogene 16 10 10 10 p11.22-p11.21 34729842 34730357 - 34964541 34965056 - 34964541 34965056 - 19123937 100271352 ABBA01033354;AL138768;AMYH01002230;NG_011286 RPS12_7_1034 pseudo 36595 INFERRED 2304795 RPS12P17 ribosomal protein S12 pseudogene 17 10 10 10 q21.1 64197095 64197562 - 70921270 70921737 - 70921270 70921737 - 19123937 100271353 ABBA01019600;AL442635;AMYH01002806;NG_011290 2183651 WI-11750 RPS12_8_1057 pseudo 35705 INFERRED 2304794 RPS12P18 ribosomal protein S12 pseudogene 18 10 10 10 q22.3 74588878 74589155 + 81303835 81304112 + 81303835 81304112 + 19123937 100271354 ABBA01020206;AC068139;AMYH01002862;BX248123;NG_011294 RPS12P19;RPS12_8_1068;RPS12_9_1069 pseudo 36421 INFERRED 2304793 RPS12P19 ribosomal protein S12 pseudogene 19 10 q22.3 81303835 81304112 + 19123937 100271355 AC068139;BX248123;NG_011298 RPS12_9_1069 pseudo 36424 2303480 RPS12P2 ribosomal protein S12 pseudogene 2 10 10 q22.3 75966542 75966810 - 81975607 81975875 - 19123937 619448 ABBA01003806;AL513174;AMYH01002882;NG_009566 RPS12_9_1071;bA40F6.3 pseudo 24221 VALIDATED 2304558 RPS12P20 ribosomal protein S12 pseudogene 20 11 11 11 q13 69723795 69724174 + 72419231 72419610 + 72419231 72419610 + 19123937 100271549 ABBA01017534;AP003065;NG_010973 RPS12_10_1153 pseudo 36187 INFERRED 2304557 RPS12P21 ribosomal protein S12 pseudogene 21 11 11 11 q22 109242283 109242677 + 112089049 112089443 + 112088967 112089460 + 19123937 100271550 ABBA01039801;AMYH01004035;AP002884;NG_010980 RPS12_11_1175 pseudo 36464 INFERRED 2305627 RPS12P22 ribosomal protein S12 pseudogene 22 11 11 11 q13.4 71763586 71764109 - 74134347 74137333 - 74456716 74457239 - 6480464 19123937 440055 ABBA01017480;AMYH01003813;AP001324;NG_011284 2135319 RH47548 RPS12_10_1156 pseudo 35671 INFERRED 2305768 RPS12P23 ribosomal protein S12 pseudogene 23 13 13 13 q12.11 2730412 2730912 - 20566433 20566853 - 21668434 21668934 - 6480464 19123937 338870 ABBA01068598;AL161613;AMYH01004955;NG_010945 RPS12_11_1301 pseudo 35573 INFERRED 2304556 RPS12P24 ribosomal protein S12 pseudogene 24 13 13 13 q13.3 18862251 18862643 - 37794995 37795389 - 37794995 37795389 - 19123937 100271551 ABBA01021340;AL138711;AMYH01005041;NG_010988 RPS12_12_1308 pseudo 35561 INFERRED 2305356 RPS12P25 ribosomal protein S12 pseudogene 25 15 15 15 q25.1 56980347 56980730 - 77831063 77831446 - 80044008 80044391 - 19123937 646985 ABBA01060616;AC026826;AMYH01006846;NG_010393 2119686 G38238 RPS12_14_1457 pseudo 36019 INFERRED 2305893 RPS12P26 ribosomal protein S12 pseudogene 26 15 15 15 q26.1 67154122 67154635 + 88550806 88551203 + 90749714 90750227 + 19123937 100130495 ABBA01053047;AC091167;AMYH01006921;NG_010991 RPS12_12_1461 pseudo 36320 INFERRED 2304555 RPS12P27 ribosomal protein S12 pseudogene 27 16 16 16 q22.1 52751728 52752171 + 68243284 68243727 + 68243284 68243727 + 19123937 100271552 ABBA01025480;AC020978;AMYH01007756;NG_010994;NG_029147 RPS12_13_1490 pseudo 35892 INFERRED 2304554 RPS12P28 ribosomal protein S12 pseudogene 28 17 17 17 p13.2 23841654 23842026 + 26982627 26982999 + 26982627 26982999 + 19123937 100271553 ABBA01015051;AC005726;AMYH01008280;NG_010999 RPS12_14_1532 pseudo 36972 INFERRED 2305538 RPS12P29 ribosomal protein S12 pseudogene 29 17 17 p13.2 4623470 4623969 - 4608094 4608594 - 19123937 728244 ABBA01054772;AC091153;AMYH01008041;NG_010933 RPS12_15_1507 pseudo 36206 INFERRED 2305485 RPS12P3 ribosomal protein S12 pseudogene 3 2 2 2 p16.1 61008903 61009411 - 61017778 61019538 - 61165312 61165820 - 19123937 344423 ABBA01075341;AC010733;AMYH01010379;NG_010533 1674234;1775572 RH15853;WI-15536 RPS12_2_223 pseudo 35500 INFERRED 2304553 RPS12P30 ribosomal protein S12 pseudogene 30 17 17 17 q22 53439015 53439352 + 56976716 56977053 + 56976716 56977053 + 19123937 100271555 ABBA01041354;AC100832;AMYH01008515;NG_011007 RPS12_15_1561 pseudo 36813 INFERRED 2304403 RPS12P31 ribosomal protein S12 pseudogene 31 19 19 19 q13.11 29820649 29821046 + 37818824 37819221 + 33126984 33127381 + 19123937 100130192 ABBA01039597;AC008474;AMYH01009696;NG_010757 RPS12_17_1644 pseudo 35578 INFERRED 2305890 RPS12P4 ribosomal protein S12 pseudogene 4 2 2 2 p21 41916814 41917316 - 41930823 41931245 - 42077321 42077823 - 6480464 19123937 391370 ABBA01075055;AC009413;AMYH01010280;CH471053;NG_011048 EAX00328 RPS12_1_210 pseudo 35670 INFERRED 2304552 RPS12P32 ribosomal protein S12 pseudogene 32 19 19 19 p13.2 11528914 11529411 + 11634171 11634668 + 11634171 11634668 + 19123937 100271556 ABBA01029844;AC008481;AMYH01009487;NG_011015 RPS12_16_1623 pseudo 35571 INFERRED 2305167 RPS12P5 ribosomal protein S12 pseudogene 5 3 3 p24.1 29369124 29369550 + 29432306 29432732 + 19123937 100271053 ABBA01024972;AC098650;AMYH01013051;NG_011058 RPS12_1_355 pseudo 36525 INFERRED 2305166 RPS12P6 ribosomal protein S12 pseudogene 6 3 3 p12 79552049 79552440 + 78808128 78808519 + 19123937 100271054 ABBA01031022;AC055731;AMYH01013301;NG_011065 RPS12_2_384 pseudo 35790 INFERRED 2305165 RPS12P7 ribosomal protein S12 pseudogene 7 3 3 q25.1 156638379 156638742 + 158214355 158214718 + 19123937 100271055 ABBA01058820;AC106707;AMYH01013606;NG_011071 RPS12_3_426 pseudo 36699 INFERRED 2305367 RPS12P8 ribosomal protein S12 pseudogene 8 4 4 4 q25 110331076 110331570 - 113257111 113257508 - 113037646 113038140 - 19123937 402184 ABBA01063812;AC093663;AMYH01014468;NG_010010 RPS12_4_508 pseudo 35945 INFERRED 2305790 RPS13P1 ribosomal protein S13 pseudogene 1 1 1 1 q24.1 138745649 138746124 + 163907117 163907592 + 165640493 165640968 + 19123937 100128305 ABBA01047280;AL451074;AMYH01001470;NG_010259;NG_012256 RPS13_1_111 pseudo 36309 INFERRED 2305648 RPS12P9 ribosomal protein S12 pseudogene 9 4 4 4 q13.1 60099305 60100144 - 62323741 62324163 - 62641145 62641984 - 19123937;9847074 727997 ABBA01022833;AC108161;AMYH01014221;NG_007430 RPS12_3_484 pseudo 36719 INFERRED 2304491 RPS13P2 ribosomal protein S13 pseudogene 2 1 1 1 p32.3 51524587 51525108 - 53010379 53012401 - 53237825 53238346 - 6480464 19123937 729236 ABBA01074762;AC099784;AMYH01000621;NG_009715 RPS13_1_51 pseudo 36364 INFERRED 2305160 RPS13P4 ribosomal protein S13 pseudogene 4 2 2 p23.3 23963955 23964411 + 24123563 24124019 + 19123937 100271060 ABBA01045096;AC066692;AMYH01010164;NG_011093;NG_029017 RPS13_2_199 pseudo 35731 INFERRED 2304852 RPS13P3 ribosomal protein S13 pseudogene 3 2 2 2 p21 42537233 42537747 + 42550461 42550910 + 42696930 42697444 + 19123937 100129718 ABBA01075061;AC025750;AMYH01010286;NG_010948 2185973 D2S1825 RPS13_3_211 pseudo 36866 INFERRED 2305159 RPS13P5 ribosomal protein S13 pseudogene 5 2 2 p23.3 25032172 25032486 - 25191796 25192110 - 19123937 100271061 ABBA01045126;AC013267;AMYH01010176;NG_011097 RPS13_2_201 pseudo 36610 INFERRED 2305158 RPS13P6 ribosomal protein S13 pseudogene 6 5 5 q31 129726845 129727356 + 133603077 133603588 + 19123937 100271062 ABBA01068763;AC104109;AMYH01015623;NG_011104 RPS13_4_614 pseudo 35653 INFERRED 2305808 RPS13P7 ribosomal protein S13 pseudogene 7 15 15 15 q21.3 34738415 34738918 - 55635391 55646498 - 57848103 57848606 - 19123937 645918 ABBA01038991;AC025271;AMYH01006677;NG_011355 2119039;2171119;5019751 A009O42;G32716;RH44889 RPS13_3_1434 pseudo 36310 INFERRED 2305913 RPS13P8 ribosomal protein S13 pseudogene 8 15 15 15 q21.2 29281909 29282426 + 50174784 50175278 + 52387469 52387986 + 6480464 19123937 645630 ABBA01039068;AC023906;AMYH01006650;NG_011321 RPS13_5_1432 pseudo 36400 INFERRED 2305157 RPS14P1 ribosomal protein S14 pseudogene 1 1 1 q32 180120564 180121084 - 206869127 206869647 - 19123937 100271063 ABBA01010192;AL591846;AMYH01001678;NG_011111;NG_029640 RPS14_1_156 pseudo 35572 INFERRED 2305227 RPS14P10 ribosomal protein S14 pseudogene 10 7 7 7 q32.3 126099879 126100085 + 131000878 131001084 + 131350338 131350544 + 19123937;12690205 647034 AACC02000027;ABBA01001077;AC093106;AMYH01017943;CH236950;NG_006544 EAL24078 RPS14_7_847 pseudo 35517 INFERRED 2305156 RPS14P2 ribosomal protein S14 pseudogene 2 1 1 q24 151489571 151490050 + 178380719 178381198 + 19123937 100271064 ABBA01027836;AL365357;AMYH01001524;NG_011116 RPS14_2_132 pseudo 36080 INFERRED 2304399 RPS10P7 ribosomal protein S10 pseudogene 7 1 1 1 q32.1 174612896 174613591 + 199755198 199756617 + 201489032 201489730 + 19123937;14702039;12477932 376693 ABBA01027532;AC096677;AK055590;AMYH01001643;BC030568;NR_026667 Hs.605989 5016478;5016596;5022651;5109281;5117897 D11S2921;D1S1425;GDB:434012;GDB:631802;GDB:631813 MGC45392;RPS10_2_147 pseudo 36423 VALIDATED 2304609 RPS14P4 ribosomal protein S14 pseudogene 4 2 2 q13 111766545 111780895 - 112053133 112053658 - 19123937 100132382 AC068491;AMYH01010931;NG_010162 RPS14_2_264 pseudo 36419 INFERRED 2305745 RPS14P5 ribosomal protein S14 pseudogene 5 2 2 p11.2 87720553 87739072 + 87954374 87954895 + 19123937 100133255 AC093616;AC133965;AMYH01010573;NG_010706 1764179 SHGC-147818 RPS14_3_249 pseudo 36087 INFERRED 2305509 RPS14P6 ribosomal protein S14 pseudogene 6 4 4 4 q31.3 150858740 150859286 - 153754428 153757972 - 153534976 153535522 - 19123937 646737 ABBA01070124;AC023424;AMYH01014622;NG_010435 RPS14_3_529 pseudo 36241 INFERRED 2305155 RPS14P7 ribosomal protein S14 pseudogene 7 4 4 q32.1 159078169 159078601 + 161739574 161740006 + 19123937 100271065 ABBA01070236;AC125470;AMYH01014657;NG_011119 RPS14_4_530 pseudo 36961 INFERRED 2305589 RPS14P8 ribosomal protein S14 pseudogene 8 5 5 5 q23.1 111847779 111848322 + 115926157 115926723 + 115898217 115898760 + 19123937 644146 ABBA01069023;AC027304;AMYH01015564;NG_010268 1673014;2114620 RH68760;SHGC-35133 RPS14_5_603 pseudo 37027 INFERRED 2305591 RPS14P9 ribosomal protein S14 pseudogene 9 6 6 6 q15 89392829 89393241 + 89031737 89031970 + 88974892 88975304 + 19123937 644119 ABBA01040517;AL121835;AMYH01016497;NG_009572 RPS14_6_722 pseudo 36286 VALIDATED 733640 RPS10 ribosomal protein S10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011] 6 6 p21.31 34493209 34501854 - 34385231 34393902 - 1580863;6480464;7240710 17353931;15189156;12588972;8706699;15883184;7772601;19034380;16169070;15635413;15592455;15489334;15345747;12651107;12477932;11751223;11121577;9915854;9582194;8722009;21145461;21319273;22672539;20116044;20159986;10409428;23184937;19338310;23455922;21832049;22863883;22939629;15047060;16196087;17342744;20000738;20434207;19738201;19805454;21963094;22623428;23000965;23246001;18781797;20639865;21139048;21693764;21890473;21900206;21906983;22145905;15536084;22318606;22586326;20301769;22510774;23398456;19380743;22053931;22505724;6188845 6204 F6U211;P46783 AB007151;AB209165;ABBA01038188;ABBA01038189;AK311797;AL157372;AMYH01016256;BC001032;BC001955;BC005012;BC070235;BC071946;BC073799;BE397113;BG532491;BG940847;BQ072109;BU956627;BX255972;BY996439;CD385233;CH471081;NG_023200;NM_001014;NM_001203245;NM_001204091;U14972;Z70761 AAA85660;AAH01032;AAH01955;AAH05012;AAH70235;AAH71946;AAH73799;ABM83060;ABM86254;BAA25817;BAD92402;BAG34740;CAA94807;EAX03782;EAX03783;EAX03784;NP_001005;NP_001190174;NP_001191020;P46783 Hs.406620;Hs.645317 1852941;5016261;5024041;5110593 D20S1016;D6S315E;RP_S10;RP_S10_2 DBA9;MGC88819;S10 40S ribosomal protein S10;OTTHUMP00000016229;OTTHUMP00000016230 APPROVED protein-coding ENSG00000124614 10383 04697 603632;613308 REVIEWED 735309 RPS12 ribosomal protein S12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 6 6 6 q23.2 133882535 133885530 + 133177401 133180396 + 133135708 133138703 + 1580863;6480464 15189156;12588972;8706699;15883184;1861993;15635413;12477932;11875025;21145461;21319273;11870519;11790298;9582194;8722009;1712897;7821789;20098747;21150874;19615732;21182205;22863883;21832049;22939629;15047060;16196087;22586326;21628590;21139048;21693764;21890473;21906983;22178446;22053931;22505724;6188845 6206 P25398 AB007153;AB061840;ABBA01025876;AK311826;AL137783;AMYH01016676;BC002550;BC017321;BC071930;BC095424;BQ276878;CH471051;D28378;NM_001016;X53505 AAH17321;AAH71930;AAH95424;BAA05744;BAA25819;BAB79478;BAG34768;CAA37582;EAW48008;EAW48009;EAW48010;EAW48011;NP_001007;P25398 Hs.546289 1667082;1794252;1804702;2090444;2090446;2090448;2135319;2143394;5124225;7186901 D6S989;ECD03283;H19;PMC310880P1;REN116499;REN116500;REN116501;RH47548;RH80451 S12 40S ribosomal protein S12;OTTHUMP00000017230 APPROVED protein-coding 10385 04714 603660 REVIEWED 1350733 RPS15AP1 ribosomal protein S15a pseudogene 1 20 20 20 p11.23 21223355 21223804 - 21094841 21095336 - 21146805 21147254 - 19123937 92682 ABBA01054100;AL121759;AMYH01011768;NG_000951;NG_033122 1779090 STS-W52024 RPS15A_24_1692;dJ872K7.6 pseudo 16598 INFERRED 2304855 RPS15AP10 ribosomal protein S15a pseudogene 10 1 1 1 p34.1 44395426 44396339 - 45884031 45884944 - 46111444 46112357 - 19123937 728963 ABBA01050862;AL604028;AMYH01000575;CA843872;NR_026768 Hs.675157 2128843 SHGC-74736 RPS15A_4_42 pseudo 37001 VALIDATED 2305114 RPS15AP11 ribosomal protein S15a pseudogene 11 1 1 1 p34.1 43528847 43529307 - 45009230 45019032 - 45245957 45246417 - 6480464 19123937 644790 ABBA01050909;AL592166;AMYH01000567;NG_010947 1779090;2182395;7185033 D1S1544;STS-W52024 RPS15A_3_41 pseudo 36707 INFERRED 2305456 RPS15AP12 ribosomal protein S15a pseudogene 12 1 1 1 q41 193536469 193536927 - 218383876 218384314 - 220317260 220317718 - 6480464 19123937 100129243 ABBA01048081;AC103590;AMYH01001742;NG_011132 RPS15A_5_166 pseudo 36759 INFERRED 2305676 RPS15AP13 ribosomal protein S15a pseudogene 13 2 2 2 p13.2 72365872 72366255 + 72369369 72369752 + 72515861 72516244 + 19123937 100128605 ABBA01075563;AC006461;AMYH01010435;NG_010488 RPS15A_3_241 pseudo 36774 INFERRED 2304356 RPS15AP14 ribosomal protein S15a pseudogene 14 2 2 2 q31.1 169662481 169662927 + 175757061 175757581 + 176048937 176049383 + 19123937 100127924 ABBA01062204;AC096649;AMYH01011286;NG_009584 RPS15A_4_297 pseudo 36629 VALIDATED 2305780 RPS15AP15 ribosomal protein S15a pseudogene 15 2 2 2 p14 65585585 65585963 - 65592406 65592784 - 65738902 65739280 - 19123937 100130782 ABBA01075446;AC007389;AMYH01010406;NG_011150 RPS15A_6_237 pseudo 35640 INFERRED 2304791 RPS15AP16 ribosomal protein S15a pseudogene 16 3 3 3 q21.3 126949893 126950254 - 128517683 128518044 - 128517683 128518044 - 19123937 100271358 ABBA01020911;AC023598;AMYH01013467;NG_011319 RPS15A_7_402 pseudo 36764 INFERRED 2305766 RPS15AP17 ribosomal protein S15a pseudogene 17 4 4 4 q13.1 60429442 60429901 - 62653927 62654362 - 62971338 62971797 - 6480464 19123937 391656 ABBA01022836;AC007511;AMYH01014225;CH471057;NG_011197 EAX05531 RPS15A_8_485 pseudo 36888 INFERRED 2304789 RPS15AP18 ribosomal protein S15a pseudogene 18 5 5 5 q35.3 174985961 174986412 - 179360775 179361226 - 179360775 179361226 - 19123937 100271360 ABBA01010049;AC010285;AMYH01015961;NG_009955 RPS15A_9_644 pseudo 36524 INFERRED 2305472 RPS15AP19 ribosomal protein S15a pseudogene 19 6 6 6 p21.31 37077586 37078044 + 35631627 35632078 + 35523623 35524081 + 6480464 19123937 646819 ABBA01038238;AL033519;AMYH01016267;NG_010854 RPS15A_5_686 pseudo 36603 INFERRED 2305621 RPS14P3 ribosomal protein S14 pseudogene 3 This gene is one of the multiple ribosomal protein S14-like genes that are dispersed throughout the genome. This gene is intronless and is a pseudogene of the spliced and functional ribosomal protein S14 gene that is located on chromosome 5. This intronless gene is transcribed and probably does not encode a functional protein. [provided by RefSeq, Feb 2013] 1 1 1 p36.13 18261478 18262015 + 19806920 19807718 + 19934573 19935110 + 19123937;12477932;17207965;9152021 644068 ABBA01059762;AL031727;AMYH01000316;BC072682;BQ930453;BU176905;NR_077246 ADQ32031 Hs.660760 5109641 D5S1606E RPS14_1_16 APPROVED pseudo 35797 VALIDATED 2305112 RPS15AP20 ribosomal protein S15a pseudogene 20 6 6 6 p12.3 53061667 53062111 - 51509912 51510302 - 51401929 51402373 - 19123937 647155 ABBA01050571;AL445529;AMYH01016346;NG_011260 RPS15A_10_701 pseudo 36391 INFERRED 1347234 RPS15AP2 ribosomal protein S15a pseudogene 2 14 14 14 q21.3 30387086 30387447 + 49589603 49590164 + 50519954 50520315 + 19123937 326316 AL117692;AMYH01005717;NG_002566 RPS15A_11_1364 pseudo 19671 INFERRED 2304792 RPS15AP21 ribosomal protein S15a pseudogene 21 6 6 6 q22.31 122447001 122447458 + 121702585 121703042 + 121702585 121703042 + 19123937 100271357 ABBA01025999;AL139098;AMYH01016632;NG_011313 RPS15A_6_747 pseudo 36142 INFERRED 2304551 RPS15AP22 ribosomal protein S15a pseudogene 22 7 7 7 q32.3 126136605 126137062 - 131386983 131387440 - 131386983 131387440 - 19123937 100271557 AACC02000027;ABBA01001077;AC093106;AMYH01017943;CH236950;NG_011019 RPS15A_11_848 pseudo 36305 INFERRED 2304550 RPS15AP23 ribosomal protein S15a pseudogene 23 7 7 7 q31 127751302 127751704 - 132999763 133000165 - 132999763 133000165 - 19123937 100271558 AACC02000027;ABBA01001100;AC083875;AMYH01017949;CH236950;NG_011024 RPS15A_12_849 pseudo 36718 INFERRED 2305652 RPS15AP24 ribosomal protein S15a pseudogene 24 8 8 8 p12 28934253 28934722 - 30094396 30094847 - 29974856 29975325 - 6480464 19123937 648729 ABBA01023671;AC026979;AMYH01018617;NG_010125 1779090 STS-W52024 RPS15A_13_889 pseudo 36174 INFERRED 2304790 RPS15AP26 ribosomal protein S15a pseudogene 26 8 8 8 q22.1 91887023 91887395 + 95700466 95700838 + 95700466 95700838 + 19123937 100271359 ABBA01037459;AC108860;AMYH01018892;NG_011324 RPS15A_7_928 pseudo 36773 INFERRED 2305107 RPS15AP25 ribosomal protein S15a pseudogene 25 8 8 8 q13.2 65431060 65431526 - 69600306 69600695 - 69437718 69438181 - 19123937;21145461;21628590 728774 ABBA01041912;AC090096;AMYH01018779;NG_011025 RPS15A_14_912 pseudo 36848 INFERRED 2304462 RPS15AP27 ribosomal protein S15a pseudogene 27 9 9 9 q31.2 81224930 81225344 - 110725942 110726356 - 110725942 110726356 - 19123937 100271613 ABBA01042780;AL353137;AMYH01021616;NG_011314 RPS15A_15_1003 pseudo 37011 INFERRED 733888 RPS11 ribosomal protein S11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012] 19 19 19 q13.3 46868975 46872285 + 54691446 54694756 + 49999622 50002969 + 6480464 17353931;15189156;12588972;8706699;15883184;3267208;15489334;14743216;12477932;11790298;10580157;9582194;11875025;16344560;20139978;8722009;1697501;1577483;21832049;22939629;17361185;21628590;16196087;18259216;18274552;18457437;19596686;19850743;21081666;21139048;21890473;21906983;21907836;21942715;21987572;22145905;21909109;21145461;21319273;22863883;19738201;19805454;21182203;21963094;21988832;22623428;23000965;23022100;23084401;23184937;23246001;23398456;21853274;22505724;6188845 6205 M0QZ90;M0QZC5;M0R1H5;M0R1H6;P62280 AB007152;AB028893;ABBA01032923;AC010619;AK311809;AMYH01009912;AV759412;BC007283;BC007603;BC007945;BC010028;BC016378;BC018829;BC070224;BC100025;BF239060;BI550467;CH471177;DA879881;NM_001015;X06617 AAH07283;AAH07603;AAH07945;AAH10028;AAH16378;AAH70224;AAI00026;ABM84151;ABM87554;BAA25818;BAA88215;BAG34752;CAA29834;EAW52497;NP_001006;P62280 Hs.433529 1667051;2111862;2152977;5094709 D11S4521;D19S1022;MARC_4679-4680:996679598:1;RH66611 S11 40S ribosomal protein S11 APPROVED protein-coding ENSG00000142534 10384 01599 180471 REVIEWED 2304478 RPS15AP28 ribosomal protein S15a pseudogene 28 10 10 10 q22.1 64335999 64336453 - 70730191 70747232 - 71060149 71060603 - 19123937 100132400 ABBA01019607;AL596223;AMYH01002806;NG_011361;NG_012077 RPS15A_16_1058 pseudo 36381 INFERRED 2305606 RPS15AP29 ribosomal protein S15a pseudogene 29 10 10 10 q24.32 98624997 98625396 - 104874764 104875163 - 104884774 104885173 - 19123937 100128863 ABBA01063121;AL360001;AMYH01003022;NG_010495 RPS15A_17_1092 pseudo 35981 INFERRED 1344059 RPS15AP3 ribosomal protein S15a pseudogene 3 14 14 14 q21.3 27773833 27774286 - 46982939 46983552 - 47913274 47913727 - 19123937 326317 ABBA01018088;AL358832;AMYH01005705;NG_002567 RPS15A_19_1360 pseudo 19674 INFERRED 2304426 RPS15AP31 ribosomal protein S15a pseudogene 31 11 11 11 p14.1 28454682 28455129 - 28308743 28309190 - 28308743 28309190 - 19123937 100271652 ABBA01060957;AC104978;AMYH01003457;NG_010192 RPS15A_18_1130 pseudo 36960 INFERRED 2304429 RPS15AP32 ribosomal protein S15a pseudogene 32 12 12 12 q24.13 113118855 113119231 + 113491867 113492243 + 113491867 113492243 + 19123937 100271649 ABBA01019944;AC089999;AMYH01004757;NG_010178 RPS15A_10_1280 pseudo 35879 INFERRED 2304638 RPS15AP34 ribosomal protein S15a pseudogene 34 16 16 16 q21 47887975 47888364 - 61934743 61942554 - 63384663 63385052 - 11181995;19123937 390735 ABBA01025371;AC117984;AMYH01007729;CH471092;NG_010426 EAW82998;EAW82999 RPS15A_22_1489 pseudo 35609 INFERRED 2304507 RPS15AP35 ribosomal protein S15a pseudogene 35 18 18 18 q12.1 26462785 26463241 - 27909821 27910233 - 29655809 29656265 - 19123937 390848 ABBA01022494;AC011825;AMYH01008928;NG_010996 RPS15A_23_1592 pseudo 36768 INFERRED 2304425 RPS15AP33 ribosomal protein S15a pseudogene 33 16 16 16 p11 27779690 27780075 - 28825263 28825648 - 28825263 28825648 - 19123937 100271654 ABBA01045690;AC145285;AMYH01007476;NG_010204 RPS15A_21_1479 pseudo 36178 INFERRED 2304466 RPS15AP30 ribosomal protein S15a pseudogene 30 10 10 10 q25.2 108475023 108475405 + 114747241 114747623 + 114747241 114747623 + 19123937 100271607 ABBA01063000;AL445486;AMYH01003079;NG_011280;NG_012631 1335006 D10S168 RPS15A_8_1098 pseudo 35495 INFERRED 2304427 RPS15AP37 ribosomal protein S15a pseudogene 37 22 22 22 q12.2 15309111 15309545 + 31508980 31509414 + 31508980 31509414 + 19123937 100271651 ABBA01055320;AC005005;AMYH01012712;NG_010187 1718777 RH123092 RPS15A_13_1746 pseudo 36173 INFERRED 2304424 RPS15AP38 ribosomal protein S15a pseudogene 38 22 22 22 q12.3 20619745 20620243 - 36817275 36817773 - 36817275 36817773 - 19123937 100271655 ABBA01055441;AMYH01012752;BX470187;NG_010210 RPS15A_25_1749 pseudo 36523 INFERRED 2305454 RPS15AP39 ribosomal protein S15a pseudogene 39 X X X p11.4 45749660 45750142 + 41492410 41492805 + 41607436 41607918 + 19123937 100129284 ABBA01046623;AL353691;AMYH01022235;NG_009981;NG_016754 RPS15A_14_1774 pseudo 35800 INFERRED 2303451 RPS15AP4 ribosomal protein S15a pseudogene 4 14 14 q23.1 41119091 41119536 - 61068824 61069269 - 19123937 654371 ABBA01018283;AL049874;AMYH01005768;NG_009527 RPS15A_20_1378 pseudo 23559 INFERRED 2305899 RPS15AP40 ribosomal protein S15a pseudogene 40 X X X p21.1 40520468 40520926 - 36302785 36303219 - 36392870 36393328 - 19123937 100128083 ABBA01073567;AL606516;AMYH01022207;NG_010442 RPS15A_26_1770 pseudo 36041 INFERRED 2304428 RPS15AP36 ribosomal protein S15a pseudogene 36 19 19 19 qter 55771440 55771908 + 58727513 58727981 + 58727513 58727981 + 19123937 100271650 ABBA01020779;AC020915;AMYH01010032;NG_010183 RPS15A_12_1675 pseudo 36803 INFERRED 1351988 RPS15AP5 ribosomal protein S15a pseudogene 5 10 10 q26.13 117204902 117205362 + 123473091 123473551 + 19123937 414230 ABBA01062862;AC025947;AMYH01003130;NG_009526 RPS15A_9_1106 pseudo 23743 INFERRED 737303 RPS13 ribosomal protein S13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 p15 17052515 17055796 - 17095939 17099220 - 6480464 17881366;12054647;15189156;12588972;8706699;15883184;8332508;17081983;15680243;15592455;15489334;15149863;14743216;12861018;12477932;11790298;11306805;9582194;8920921;8722009;2403345;21145461;21319273;22912744;16159877;21182205;22863883;22939629;16196087;20434207;16051665;18274552;18457437;19596686;20639865;21139048;21890473;21906983;22295575;19912438;22145905;17620599;22354994;17361185;21628590;22779921;23184937;23383273;21853274;22505724;22797925;6188845 6207 E9PS50;J3KMX5;P62277 ABBA01061070;AC006597;AC116533;AK312060;AMYH01003413;BC000475;BC006772;BC029732;BC066322;BC100032;CH471064;D88010;L01124;L05090;NM_001017;X79239 AAA60283;AAC15854;AAH00475;AAH06772;AAH29732;AAH66322;AAI00033;ABM82033;ABM85214;BAA13528;BAG34996;CAA55821;EAW68448;NP_001008;P62277 Hs.446588 5015745;5015903;5095917 D11S4397;D19S1001;GDB:372023 S13 40S ribosomal protein S13;OTTHUMP00000231640;OTTHUMP00000231661 APPROVED protein-coding ENSG00000110700 10386 01604 180476 REVIEWED 2305050 RPS15AP7 ribosomal protein S15a pseudogene 7 1 1 p31.3 60945178 60945657 + 62656164 62656643 + 19123937 100271142 ABBA01074608;AL162739;AMYH01000666;NG_010203 RPS15A_1_57 pseudo 35648 INFERRED 2305049 RPS15AP8 ribosomal protein S15a pseudogene 8 1 1 p34.2 41159977 41160449 - 42878023 42878495 - 19123937 100271143 ABBA01023133;AL513331;AMYH01000550;NG_010208 RPS15A_2_39 pseudo 36887 INFERRED 2305465 RPS15P1 ribosomal protein S15 pseudogene 1 1 1 1 p13.2 111971168 111971652 + 113542970 113543534 + 113741429 113741913 + 19123937 728428 ABBA01068450;AL357055;AMYH01000957;NG_010559 RPS15_1_87 pseudo 35725 INFERRED 2305846 RPS15AP9 ribosomal protein S15a pseudogene 9 1 1 1 p13.1 115909444 115909927 + 117481912 117482753 + 117680787 117681270 + 19123937;11181995 441898 ABBA01068499;AL391476;AMYH01000972;CH471122;NG_006958 EAW56670 RPS15A_2_91 pseudo 36164 INFERRED 2305154 RPS15P2 ribosomal protein S15 pseudogene 2 1 1 q42.2 207763318 207763815 - 234492419 234492916 - 19123937 100271066 ABBA01033094;AL355472;AMYH01001831;NG_011122 RPS15_1_177 pseudo 36033 INFERRED 2304368 RPS15P3 ribosomal protein S15 pseudogene 3 1 1 1 q24.3 144880519 144892506 + 170037736 170049733 + 171771113 171783110 + 19123937 391137 ABBA01027923;AL031864;AMYH01001497;NG_011163 RPS15_2_123 pseudo 35563 INFERRED 2305051 RPS15AP6 ribosomal protein S15a pseudogene 6 1 1 p36.12 19655462 19655915 - 21330004 21330457 - 19123937 100271141 ABBA01059799;AL627311;AMYH01000326;NG_010197 1773025;1850236 G29258;SHGC-74355 RPS15A_1_18 pseudo 35657 INFERRED 2305850 RPS15P4 ribosomal protein S15 pseudogene 4 2 2 2 q31.1 165990338 165990836 - 172081878 172082593 - 172373749 172374247 - 19123937;11181995 401019 ABBA01020726;AC007969;AMYH01011262;CH471058;NG_005983 EAX11211 RPS15_2_291 pseudo 35712 INFERRED 2305875 RPS15P5 ribosomal protein S15 pseudogene 5 3 3 3 p14.3 54626768 54627295 + 54635261 54635749 + 54660180 54660707 + 6480464 19123937 729789 ABBA01024462;AC092057;AMYH01013198;NG_010976 RPS15_3_372 pseudo 35536 INFERRED 2305699 RPS15P6 ribosomal protein S15 pseudogene 6 5 5 5 q34 160065558 160066057 - 163960586 163961036 - 164027977 164028476 - 19123937 391845 ABBA01044178;AC008446;AMYH01015773;NG_010863 RPS15_3_634 pseudo 36653 INFERRED 2304788 RPS15P7 ribosomal protein S15 pseudogene 7 12 12 12 p13 6055580 6056067 - 4433513 4434005 - 4433513 4434005 - 19123937 100271361 ABBA01048766;AC006122;AMYH01004196;NG_009960 RPS15_4_1197 pseudo 36623 INFERRED 2304872 RPS15P8 ribosomal protein S15 pseudogene 8 15 15 15 q14 14549600 14550061 + 35570184 35573484 + 37782879 37783340 + 19123937 390576 ABBA01038491;AC016304;AMYH01006549;NG_010918 1298121;1708540 D2S2184;SHGC-85049 RPS15_4_1425 pseudo 35847 INFERRED 2305551 RPS15P9 ribosomal protein S15 pseudogene 9 19 19 19 p13.3 1241677 1243911 - 1258385 1260589 - 1307385 1309589 - 19123937 401895 ABBA01002638;AC005330;AMYH01009243;NG_011189 RPS15_5_1616 pseudo 36440 INFERRED 2305849 RPS16P1 ribosomal protein S16 pseudogene 1 1 1 1 p36.21 14634671 14635192 + 16027300 16027821 + 16154707 16155228 + 6480464 19123937 441876 ABBA01004693;AL450998;AMYH01000275;NG_010091 RPS16_1_14 pseudo 36462 INFERRED 2305796 RPS16P10 ribosomal protein S16 pseudogene 10 19 19 19 p12 20140805 20141375 + 20096853 20097293 + 20235789 20236359 + 6480464 19123937 729903 ABBA01051349;AC011447;AMYH01009613;NG_009607 1752651;1770698;2163026 D19S726;RP_S16_1;SHGC-106499 RPS16_5_1636 pseudo 35739 INFERRED 2305477 RPS16P2 ribosomal protein S16 pseudogene 2 2 2 2 p24.1 20217659 20218199 - 20218875 20219299 - 20355334 20355874 - 19123937 402069 ABBA01018483;AC098828;AMYH01010148;NG_010786 RPS16_1_197 pseudo 35928 INFERRED 2305153 RPS16P3 ribosomal protein S16 pseudogene 3 2 2 q21.2 135678250 135678603 - 141965651 141966004 - 19123937 100271067 ABBA01028101;AC068287;AMYH01011138;NG_011126 RPS16_2_279 pseudo 35986 INFERRED 2305152 RPS16P4 ribosomal protein S16 pseudogene 4 3 3 p22 37171258 37171693 + 37237725 37238160 + 19123937 100271068 ABBA01024852;AC097359;AMYH01013087;NG_011135 RPS16_2_363 pseudo 36502 INFERRED 2304787 RPS16P6 ribosomal protein S16 pseudogene 6 11 11 11 q13 61975075 61975485 + 64649007 64649417 + 64649007 64649417 + 19123937 100271362 ABBA01024139;AP001187;NG_009966 1799732;1828736;1971890;1971892;1971894;1971896;1971898;1971900;1971902;1971904;1971906;1971908;1971910;1971912;1971914 ECD00720;ECD15495;REN56830;REN56831;REN56832;REN56833;REN56834;REN56835;REN56836;REN56837;REN56838;REN56839;REN56840;REN56841;REN56842 RPS16_3_1149 pseudo 36741 INFERRED 2305885 RPS16P7 ribosomal protein S16 pseudogene 7 16 16 16 p13.3 2596678 2597164 - 2322315 2330180 - 2382248 2382734 - 19123937 441744 ABBA01030262;AC106820;AMYH01007057;NG_010756;NG_011790 RPS16_4_1467 pseudo 36505 INFERRED 2305355 RPS16P8 ribosomal protein S16 pseudogene 8 17 17 17 q11.1 22468888 22469420 + 22631596 22632090 + 25607455 25607987 + 19123937 654170 ABBA01015073;AC026254;AMYH01008275;NG_010473 RPS16_4_1529 pseudo 35608 INFERRED 2304392 RPS16P9 ribosomal protein S16 pseudogene 9 19 19 19 q13.32 42641828 42642386 - 50527796 50529334 - 45835887 45836446 - 19123937 645412 ABBA01040922;AC112705;AMYH01009850;NG_010193 RPS16_5_1659 pseudo 35659 INFERRED 2305110 RPS16P5 ribosomal protein S16 pseudogene 5 6 6 6 p12.1 54861419 54864970 - 53307217 53310780 - 53199258 53202415 - 6480464 19123937;14702039 647190 ABBA01050538;AK097937;AL034374;AMYH01016360;NR_046241 Hs.520189 RPS16_3_702 pseudo 36183 VALIDATED 1352565 RPS17L3 ribosomal protein S17-like 3, G1-phase expressed 8123253 6221 10400 731753 RPS14 ribosomal protein S14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q31-q33 149803985 149809512 - 149823792 149829319 - 6480464;7240710 7867928;17353931;3683397;18202658;9152021;15189156;12588972;8706699;15883184;18650472;16713569;16189514;15489334;15231748;12477932;9582194;8722009;8076819;7177110;3785212;3529092;22391559;21145461;21319273;1549121;20491881;17643375;18851979;19773262;20193850;20877624;21068437;19794090;21182205;22863883;23246961;21832049;22939629;16196087;19135240;15840729;18274552;18457437;19596686;21873545;18781797;21139048;21890473;21906983;21942715;21987572;22178446;22145905;22525275;22586326;22589738;23184937;7821789;22430631;19738201;19805454;21963094;21988832;22623428;23000965;23246001;23398456;23455922;23463506;23506134;21853274;6188845 6208 E5RH77;H0YB22;P62263 AA467888;ABBA01026280;AC011388;AK312179;AMYH01015707;BC001126;BC003401;BC006784;BC020515;BC091474;BC110792;BM454896;BM557014;CH471062;D28352;M13934;NM_001025070;NM_001025071;NM_005617 AAB59504;AAB59505;AAH01126;AAH03401;AAH06784;AAH20515;AAH91474;ABM81890;ABM85062;BAA05718;BAG35112;EAW61723;EAW61724;EAW61725;EAW61726;NP_001020241;NP_001020242;NP_005608;P62263 Hs.744846 1667173;1728669;2123019;5109641 D5S1419;D5S1606E;G63626;RP_S14_1 EMTB;S14 40S ribosomal protein S14;OTTHUMP00000160559;OTTHUMP00000224341;OTTHUMP00000224342;OTTHUMP00000224343;emetine resistance APPROVED protein-coding ENSG00000164587 10387 00562 130620;153550 REVIEWED 736357 RPS15 ribosomal protein S15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 1372361 1374490 + 1389363 1391492 + 1438363 1440492 + 6480464 16037817;15189156;12588972;8706699;15883184;19061985;15489334;12477932;9582194;8722009;2159154;2821540;15231747;18697920;21145461;3378620;2044758;22863883;22939629;16196087;22586326;21628590;18457437;19850743;21139048;21693764;21890473;22797925;6188845 6209 K7EJ78;K7ELC2;K7EM56;K7EPN6;K7EQJ5;P62841 ABBA01002646;AC027307;AF145025;AMYH01009249;BC064908;BC080543;BC105810;BC141832;BU602036;CH471139;J02984;M32405;NG_017014;NM_001018 AAA36036;AAA36568;AAH64908;AAI05811;AAI41833;AAP97277;EAW69499;EAW69500;NP_001009;P62841 Hs.406683 1773316;5015861;5037552;7185938 D10S16;D8S2279;RP_S15 MGC111130;RIG;S15 40S ribosomal protein S15;homolog of rat insulinoma;insulinoma protein APPROVED protein-coding ENSG00000115268 10388 01613 180535 REVIEWED 1342727 RPS17P1 ribosomal protein S17 pseudogene 1 6 6 6 p22.1 31063022 31063514 - 29565027 29565432 - 29456978 29457470 - 19123937 442195 ABBA01038032;AL645927;AL662869;AMYH01016195;BX000531;BX247947;BX927133;CR388393;CR759768;CR759956;NG_008917 RPS17_3_674;RPS17p;dJ994E9.1 pseudo 13982 INFERRED 2305149 RPS17P10 ribosomal protein S17 pseudogene 10 3 3 q24 141997333 141997809 - 143574531 143575007 - 19123937 100271071 ABBA01059011;AC107421;AMYH01013554;NG_011152 RPS17_2_414 pseudo 36438 INFERRED 5132149 RPS17L ribosomal protein S17-like 15 83205504 83209208 - 22863883;22145905;22505724 100505503 H0YN73;H0YN88;P08708;P0CW22 ABBA01029417;AC010724;AK311951;AMYH01006854;BC009407;BC019899;BC020453;BC022370;BC049824;BC062715;BC070222;BC071928;M13932;NM_001199057 AAA60284;AAH09407;AAH19899;AAH22370;AAH49824;AAH62715;AAH70222;AAH71928;BAG34891;NP_001185986;P0CW22 Hs.433427 1677951;1744099;1852017;2010716;2177354;5093602 D15S1199;G32815;GDB:388551;REN76280;RH67507;RH71452 40S ribosomal protein S17-like protein-coding ENSG00000182774 40029 VALIDATED 2305148 RPS17P11 ribosomal protein S17 pseudogene 11 5 5 q11.2 48529037 48529388 + 51578345 51578696 + 19123937 100271072 ABBA01015714;AC116357;AMYH01015077;NG_011156 RPS17_4_560 pseudo 36132 INFERRED 2305147 RPS17P13 ribosomal protein S17 pseudogene 13 7 7 7 p14.2 37140850 37141227 + 37156413 37156790 + 37156413 37156790 + 19123937 100271073 AACC02000036;ABBA01056913;AC009196;AMYH01017181;CH236951;NG_011159 RPS17_6_804 pseudo 36664 INFERRED 2305516 RPS17P12 ribosomal protein S17 pseudogene 12 7 7 7 q33 132721489 132721935 - 137633366 137633769 - 137982806 137983252 - 19123937;12690205 442726 AACC02000025;ABBA01001161;AC008155;AMYH01017968;CH236950;CH471070;NG_009855 EAL24048;EAW83883 RPS17_5_854 pseudo 35930 VALIDATED 2305146 RPS17P14 ribosomal protein S17 pseudogene 14 8 8 q23.1 105578541 105578927 - 109391388 109391774 - 19123937 100271074 ABBA01037704;AMYH01018956;AP002088;NG_011164 RPS17_6_941 pseudo 35534 INFERRED 2304786 RPS17P15 ribosomal protein S17 pseudogene 15 11 11 11 q23.1 108129457 108129784 - 110976292 110976619 - 110976292 110976619 - 19123937 100271363 ABBA01039825;AMYH01004029;AP003973;NG_009973 RPS17_7_1173 pseudo 35931 INFERRED 2304935 RPS17P17 ribosomal protein S17 pseudogene 17 X X X q27.1 139925142 139925550 - 139553031 139553439 - 139553031 139553439 - 19123937 100271230 ABBA01066148;AL121875;AMYH01023063;NG_010652 RPS17_8_1818 pseudo 35647 INFERRED 1350895 RPS17P4 ribosomal protein S17 pseudogene 4 85966 19430 1344055 RPS17P2 ribosomal protein S17 pseudogene 2 5 5 5 q23.1 112001413 112001891 + 116079716 116080408 + 116051914 116052392 + 6480464 19123937;3459254;3240863 6219 ABBA01069021;AC091986;AC126767;AMYH01015564;NG_003033 2010716 REN76280 RPS17A;RPS17L1;RPS17_5_604 pseudo 10398 INFERRED 1353406 RPS17P3 ribosomal protein S17 pseudogene 3 17 17 17 q11.2 26080029 26080512 + 26182045 26182462 + 29157895 29158378 + 19291764;19123937;3459254;3240863 646013 ABBA01014985;AC127024;AMYH01008317;NG_009636 1753469 SHGC-107412 RPS17B;RPS17L2;RPS17_7_1537 pseudo 10399 VALIDATED 1346959 RPS17P5 ribosomal protein S17 pseudogene 5 6 6 6 p12.3 52380830 52381308 - 50932873 50933359 - 50824922 50825400 - 6480464 19123937;3240863 442216 ABBA01050577;AL049693;AMYH01016343;NG_005089 RPS17L4;RPS17_4_700;dJ753D5.2 pseudo 21352 INFERRED 2304370 RPS17P6 ribosomal protein S17 pseudogene 6 1 1 1 q24.1 140236733 140237215 - 165398284 165398698 - 167131617 167132099 - 19123937 391130 ABBA01047252;AL451050;AMYH01001480;NG_011125 RPS17_1_116 pseudo 36945 INFERRED 2305151 RPS17P7 ribosomal protein S17 pseudogene 7 2 2 q14 115392223 115392643 + 122067572 122067992 + 19123937 100271069 ABBA01032239;AC013399;AMYH01010995;NG_011141 RPS17_1_271 pseudo 35796 INFERRED 2305150 RPS17P8 ribosomal protein S17 pseudogene 8 2 2 q32 187233622 187233964 + 193638808 193639150 + 19123937 100271070 ABBA01062411;AC013401;AMYH01011360;NG_011147 RPS17_2_307 pseudo 36772 INFERRED 2305749 RPS17P9 ribosomal protein S17 pseudogene 9 3 3 3 q22.1 128131059 128144904 + 131186625 131200469 + 129703935 129717779 + 19123937 100130823 ABBA01059211;AC083906;AMYH01013484;NG_010005 1721243;5094332 G54717;G59468 RPS17_3_404 pseudo 36160 INFERRED 2304483 RPS18P10 ribosomal protein S18 pseudogene 10 6 6 6 q24.1 141984220 141984757 - 141285403 141285615 - 141243554 141244091 - 19123937 729293 ABBA01025773;AL357084;AMYH01016713;NG_011382 RPS18_2_763 pseudo 35566 INFERRED 2305143 RPS18P11 ribosomal protein S18 pseudogene 11 8 8 q13.3 67334006 67334537 - 71336323 71336854 - 19123937 100271077 ABBA01041940;AC022730;AMYH01018782;NG_011179 RPS18_3_913 pseudo 36319 INFERRED 2304641 RPS18P12 ribosomal protein S18 pseudogene 12 17 17 17 p12 14632983 14633521 - 14549056 14552988 - 14608355 14608893 - 19123937 388339 ABBA01055035;AC013248;AMYH01008128;NG_011261 RPS18_4_1516 pseudo 35967 INFERRED 735975 RPS15A ribosomal protein S15a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 16 16 16 p 17948012 17955392 - 18701778 18709157 - 18794277 18801656 - 6480464 9582194;14667819;15883184;15108328;15189156;12588972;8706699;16189514;15489334;14702039;12477932;8722009;8185605;21145461;21319273;16226712;21182205;22863883;22939629;17361185;21628590;22234250;15840729;18274552;18781797;21139048;21726808;21890473;21900206;21906983;21942715;21987572;21907836;22145905;23184937;21853274;22505724 6210 B2R4W8;H3BT37;H3BV27;H3BVC7;I3L246;I3L303;I3L3P7;P62244 AB007154;AB062400;ABBA01028241;ABBA01028242;AC020716;AC138811;AK023088;AK130967;AK291988;AK311976;AMYH01007309;AY208299;BC001697;BC030569;BC032115;BC046113;BC105273;BC105292;BF678907;BG035607;CH471186;CS185588;NM_001019;NM_001030009;X84407 AAH01697;AAH30569;AAH46113;AAI05274;AAI05293;AAO48936;ADZ16007;BAA28592;BAB93487;BAF84677;BAG34915;CAA59127;CAJ42769;EAW50254;EAW50255;NP_001010;NP_001025180;P62244 Hs.370504 1668784;1671165;1684224;1700212;1779090;5014865;5015861;5020948;5021138;5124515;7185938 D10S16;D12S1332;D16S3226;G35510;RH103722;RH25299;RH71296;SHGC-60635;SHGC-6101;STS-W52024 FLJ27457;MGC111208;S15a 40S ribosomal protein S15a;OTTHUMP00000162054;up-regulated by HBV X protein APPROVED protein-coding ENSG00000134419 10389 04723 603674 REVIEWED 2304785 RPS18P13 ribosomal protein S18 pseudogene 13 19 19 19 p13.1 18061145 18061650 + 18159439 18159944 + 18159439 18159944 + 19123937 100271364 ABBA01051244;AC020904;AMYH01009584;NG_009978 RPS18_8_1634 pseudo 36901 INFERRED 2305714 RPS18P14 ribosomal protein S18 pseudogene 14 22 22 22 q12.2 15755910 15756445 + 30285469 30285925 + 31955428 31955963 + 19123937 100128535 ABBA01055340;AL096701;AMYH01012718;NG_010112 1827122;1838574;1844624;2007008;2007010;2007012;2007014;2007016;2007018;2007020;2007022;2007024;2007026;2007028;2007030 ECD14676;ECD20461;ECD23526;REN74420;REN74421;REN74422;REN74423;REN74424;REN74425;REN74426;REN74427;REN74428;REN74429;REN74430;REN74431 RPS18_10_1747 pseudo 36386 INFERRED 1351157 RPS18P2 ribosomal protein S18 pseudogene 2 14 14 14 q32.11 71281406 71281938 + 90302487 90303224 + 91232839 91233371 + 19123937 326320 ABBA01030497;AL122020;AMYH01005947;NG_002570 RPS18_7_1400 pseudo 19801 INFERRED 2305833 RPS18P3 ribosomal protein S18 pseudogene 3 1 1 1 q42.13 200809418 200809955 + 225684850 225685305 + 227618183 227618720 + 19123937 100128258 ABBA01009613;AL606462;AMYH01001780;NG_009969 RPS18_2_171 pseudo 36198 INFERRED 2305216 RPS18P5 ribosomal protein S18 pseudogene 5 3 3 3 q12.3 99687650 99688189 - 102777087 102778537 - 101295295 101295834 - 19123937;11181995;21145461 100131863 ABBA01061774;AC073861;AMYH01013360;CH471052;NG_010113 EAW79788;EAW79789 1689017 RH64826 RPS18;RPS18_1_389 pseudo 36287 INFERRED 2305144 RPS18P6 ribosomal protein S18 pseudogene 6 3 3 q11.2 93278358 93278639 + 94890940 94891221 + 19123937 100271076 ABBA01026961;AC108695;AC108715;AMYH01013343;NG_011173 RPS18_3_386 pseudo 36028 INFERRED 2305145 RPS18P4 ribosomal protein S18 pseudogene 4 1 1 q24 140669858 140670385 + 167560586 167561113 + 19123937 100271075 ABBA01047242;AL031733;AMYH01001484;NG_011169 RPS18_1_117 pseudo 36952 INFERRED 2304875 RPS18P7 ribosomal protein S18 pseudogene 7 5 5 5 q14.3 86552312 86552843 + 90686052 90686510 + 90650257 90650788 + 19123937 133790 ABBA01062167;AC008799;AMYH01015480;NG_010832 RPS18_4_595 pseudo 35874 INFERRED 2305761 RPS18P8 ribosomal protein S18 pseudogene 8 6 6 6 p25.1 6207985 6208488 + 4924305 4927486 + 4979263 4979766 + 19123937 643627 ABBA01022004;AL359643;AMYH01016048;NG_011359 2218900 UniSTS:463427 RPS18_5_650 pseudo 35956 INFERRED 1347004 RPS18P1 ribosomal protein S18 pseudogene 1 20 20 20 p12.3 5584359 5584816 + 5461524 5461981 + 5513524 5513981 + 19123937;15489334;14702039;11780052;10718198 128676 ABBA01053880;AL109935;AMYH01011695;NG_000970 RPS18_9_1682;dJ1022P6.1 pseudo 16550 INFERRED 2305478 RPS17P16 ribosomal protein S17 pseudogene 16 22 22 22 q12.3 16235932 16236432 + 30765435 30765974 + 32435452 32435952 + 19123937;12477932 402057 ABBA01055362;AMYH01012724;CH471095;NG_010713;NG_017045;Z74021 EAW60005 1823924;2010700;2010702;2010704;2010706;2010708;2010710;2010712;2010714;2010716;2010718;2010720;2098194 ECD13056;REN76271;REN76272;REN76273;REN76275;REN76276;REN76277;REN76278;REN76279;REN76280;REN76281;REN76282;stSG602477 RPS17_8_1748 pseudo 36821 INFERRED 1349522 RPS19P1 ribosomal protein S19 pseudogene 1 20 20 20 p11.23 18559287 18559810 + 18433272 18433739 + 18485225 18485748 + 19123937;10753603 85486 ABBA01054047;AF242191;AL121893;AMYH01011743;NG_001295;NG_016281 RPS19_3_1688;bA189K21.7 pseudo 16534 INFERRED 1352216 RPS19P2 ribosomal protein S19 pseudogene 2 1 1 1 p13.2 111941349 111941789 + 113513134 113513574 + 113711611 113712051 + 19123937;10753603 85487 ABBA01068450;AF242192;AL357055;AMYH01000957;NG_001296 RPS19_1_86 pseudo 17047 INFERRED 2303463 RPS19P3 ribosomal protein S19 pseudogene 3 14 14 q13.2 34107590 34108089 - 35037858 35038375 - 19123937 728953 AL445363;NG_009541 2191663 MARC_4171-4172:996679463:3 RPS19_4_1350 pseudo 23560 INFERRED 2304966 RPS19P4 ribosomal protein S19 pseudogene 4 5 5 q11.2 52745064 52745847 + 52709307 52710090 + 19123937 100132049 ABBA01015718;AC108114;AMYH01015082;AMYH01015083;NG_011084 RPS19_2_563 pseudo 35778 INFERRED 2305599 RPS19P5 ribosomal protein S19 pseudogene 5 6 6 6 q21 111629991 111637179 - 110990071 110997259 - 110883378 110890566 - 19123937 100131286 ABBA01026114;AL512430;AMYH01016589;NG_011109 RPS19_1_737 pseudo 35850 INFERRED 2305142 RPS19P6 ribosomal protein S19 pseudogene 6 9 9 q21.31 53974561 53974999 - 83397247 83397685 - 19123937 100271078 ABBA01033963;AL353707;AMYH01021443;NG_011181 RPS19_2_988 pseudo 36217 INFERRED 2305353 RPS19P7 ribosomal protein S19 pseudogene 7 10 10 10 q11.21 41571717 41574534 - 44888543 44891360 - 45568537 45571354 - 19123937 728509 ABBA01050024;AL358394;AMYH01002298;NG_010974 RPS19_3_1038 pseudo 35550 INFERRED 1342484 RPS18 ribosomal protein S18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34794207 34798639 + 33347830 33352259 + 33239852 33244281 + 6480464 15189156;12588972;8706699;15883184;8441687;15635413;15532723;14574404;12477932;12145273;11790298;9582194;8722009;7923143;1872840;21145461;21319273;19834535;19851445;23184937;21182205;21832049;22863883;22939629;16196087;19167051;18457437;19596686;19850743;21139048;21693764;21890473;21906983;21987572;22178446;17361185;18685789;21256985;21575865;18259216;22145905;15576338;21853274;22505724;22797925;6188845 6222 J3JS69;P62269;Q5GGW2 ABBA01038139;AL031228;AL645940;AL662820;AL662827;AL713971;AL844527;AMYH01016243;AY536376;BC070230;BC101786;BC101788;BC106063;BX248408;CH471081;CR759786;CR759817;NM_022551;X69150 AAI01787;AAI01789;AAI06064;AAT66049;CAA20231;CAB56794;EAX03694;EAX03695;EAX03696;EAX03697;EAX03698;EAX03699;NP_072045;P62269 Hs.448854;Hs.627414 1685556;1689017;5014728;5023395;5108351;5491346 D6S1905;RH64826;RH77;Sacm2l;WI-15797;stSG602121 D6S218E;HKE3;KE-3;KE3;MGC117351;MGC126835;MGC126837;S18 40S ribosomal protein S18;OTTHUMP00000029059;rhabdomyosarcoma antigen MU-RMS-40.21 APPROVED protein-coding ENSG00000231500 10401 01601 180473 REVIEWED 2305806 RPS18P9 ribosomal protein S18 pseudogene 9 6 6 6 q25.1 150650217 150650759 + 149955762 149957429 + 149915175 149915717 + 19123937;12477932 645958 ABBA01025677;AL078581;AMYH01016737;BC071678;BQ020488;EB387363;NR_077247 Hs.632614 1659156;1689017;1774986;5014728;5023395 D6S1905;RH46571;RH64826;SHGC-32611;WI-15797 RPS18_6_767 pseudo 36483 VALIDATED 1348390 RPS20P1 ribosomal protein S20 pseudogene 1 21 21 21 q22.12 22296215 22296673 - 36018776 36019434 - 37097006 37097464 - 19123937;10830953 54025 ABBA01057373;AF015720;AMYH01012220;NG_000906;NG_011402 RPS20P;RPS20_16_1728 ribosomal protein s20, pseudogene 1 pseudo 10408 INFERRED 2305139 RPS20P10 ribosomal protein S20 pseudogene 10 2 2 p13.2 72061310 72061567 - 72211307 72211564 - 19123937 100271081 ABBA01075562;AC067950;AMYH01010431;NG_011200 RPS20_3_240 pseudo 36800 INFERRED 2305138 RPS20P11 ribosomal protein S20 pseudogene 11 2 2 q13 106764873 106765389 - 113379342 113379858 - 19123937 100271082 ABBA01074254;AC079922;AMYH01010966;NG_011209 RPS20_4_266 pseudo 36084 INFERRED 2305137 RPS20P12 ribosomal protein S20 pseudogene 12 2 2 q37.1 228958716 228959187 + 235238046 235238517 + 19123937 100271083 ABBA01001957;AC097713;AMYH01011583;NG_011214 RPS20_4_337 pseudo 36519 INFERRED 2305136 RPS20P13 ribosomal protein S20 pseudogene 13 2 2 q22.3 143341683 143342208 - 149627550 149628075 - 19123937 100271084 ABBA01028000;AC105402;AMYH01011160;NG_011218 RPS20_5_284 pseudo 36071 INFERRED 2304866 RPS20P14 ribosomal protein S20 pseudogene 14 3 3 3 q27.3 185049819 185050343 + 188100463 188101182 + 186617862 186618386 + 19123937 440992 ABBA01058379;AC007690;AMYH01013741;NG_005532 2111888 D3S4060 RPS20_6_446 pseudo 36692 INFERRED 2305135 RPS20P15 ribosomal protein S20 pseudogene 15 3 3 p22 27440275 27440588 + 27503997 27504310 + 19123937 100271085 ABBA01025000;AC099535;AMYH01013045;NG_011227;NG_032673 RPS20_5_351 pseudo 36340 INFERRED 2305134 RPS20P16 ribosomal protein S20 pseudogene 16 5 5 q15 92163117 92163412 + 96278598 96278893 + 19123937 100271086 ABBA01069226;AC008850;AMYH01015491;NG_011233 RPS20_7_597 pseudo 35851 INFERRED 1351474 RPS17 ribosomal protein S17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 15 15 q 80608216 80611920 - 82821161 82824865 - 1580863;6480464;7240710 17647292;18412286;18697920;15189156;12588972;8706699;15883184;3240863;19061985;15635413;15489334;15345747;14702039;12477932;9582194;8878544;8722009;8318536;7661859;3529092;1577483;20378560;21145461;21319273;16572171;16196087;22939629;21078624;22262766;18457437;20639865;21693764;21942715;21987572;19738201;19805454;21139048;21890473;21906983;21963094;22623428;22810585;23000965;23106098;23184937;23246001;23438482;23455922;22145905;22045982;20301769;22398290;17620599;22174317;22505724;22944692;6188845 6218 H0YK46;H0YN73;H0YN88;P08708;P0CW22 AC135995;AK311951;BC009407;BC019899;BC020453;BC022370;BC049824;BC062715;BC070222;BC071928;CH471188;M13932;M18000;NG_009890;NM_001021 AAA60284;AAA60285;AAH09407;AAH19899;AAH22370;AAH49824;AAH62715;AAH70222;AAH71928;ABM84306;ABM87700;BAG34891;EAW62453;EAW62454;EAW62455;NP_001012;P08708 Hs.433427;Hs.512525 1677951;1744099;1852017;2010716;2177354;5093602 D15S1199;G32815;GDB:388551;REN76280;RH67507;RH71452 DBA4;MGC72007;RPS17L;RPS17L1;RPS17L2;S17 40S ribosomal protein S17;OTTHUMP00000190866 APPROVED protein-coding ENSG00000184779 10397 01600 180472;612527 REVIEWED 2305132 RPS20P17 ribosomal protein S20 pseudogene 17 5 5 q35.3 171727832 171728179 - 176773079 176773426 + 19123937 100271088 ABBA01033457;AC146507;AMYH01015873;NG_011240 RPS20_9_642 pseudo 35822 INFERRED 2305515 RPS20P19 ribosomal protein S20 pseudogene 19 7 7 7 q36.1 146851873 146852391 - 152287631 152288149 - 152287631 152288149 - 19123937 644309 ABBA01035124;AC104843;AMYH01018153;NG_011101 RPS20_7_863 pseudo 36503 INFERRED 2304934 RPS20P18 ribosomal protein S20 pseudogene 18 6 6 6 q21 111768228 111768711 + 111021643 111022126 + 111021643 111022126 + 19123937 100271231 ABBA01026111;AL512430;AMYH01016589;NG_010657 RPS20_10_738 pseudo 36937 INFERRED 1345020 RPS20P2 ribosomal protein S20 pseudogene 2 16 16 16 p13.3 1592931 1594114 + 1378627 1379810 + 1378627 1379810 + 64726 ABBA01030312;AL031714;AMYH01007031;NG_009635 1653716;2183750 SHGC-60704;SHGC-61088 pseudo 14195 VALIDATED 2304932 RPS20P20 ribosomal protein S20 pseudogene 20 8 8 8 q13 68807686 68808023 + 72808230 72808567 + 72808230 72808567 + 19123937 100271233 ABBA01041952;AC022867;AMYH01018784;NG_010667 RPS20_11_915 pseudo 36674 INFERRED 2304931 RPS20P21 ribosomal protein S20 pseudogene 21 8 8 8 q21.11 70892074 70892599 + 74894224 74894749 + 74894224 74894749 + 19123937 100271234 ABBA01041977;AC022868;AMYH01018798;NG_010674;NG_016618 2114334;2171472 D8S2076;WI-15063 RPS20_12_916 pseudo 35993 INFERRED 2305131 RPS20P23 ribosomal protein S20 pseudogene 23 8 8 q22.3 97974127 97974483 - 101788740 101789096 - 19123937 100271089 ABBA01037586;AMYH01018929;AP004195;NG_011244 RPS20_9_932 pseudo 36146 INFERRED 2305133 RPS20P22 ribosomal protein S20 pseudogene 22 8 8 p12 37244850 37245353 - 38291866 38292369 - 19123937 100271087 ABBA01023533;AC087623;AMYH01018653;NG_011236 RPS20_8_895 pseudo 36379 INFERRED 2304933 RPS20P24 ribosomal protein S20 pseudogene 24 9 9 9 q21.12 45843618 45844128 - 75270716 75271226 - 75270716 75271226 - 19123937 100271232 ABBA01033863;AL591662;AMYH01021405;NG_010663 RPS20_10_984 pseudo 36283 INFERRED 2305544 RPS20P26 ribosomal protein S20 pseudogene 26 11 11 11 p11.2 47351921 47352436 - 47169274 47169669 - 47212692 47213207 - 19123937 646660 ABBA01060721;AC090589;AMYH01003540;NG_011349 RPS20_11_1143 pseudo 36980 INFERRED 2304930 RPS20P25 ribosomal protein S20 pseudogene 25 9 9 9 q21.31 54601957 54602311 + 84025194 84025548 + 84025194 84025548 + 19123937 100271235 ABBA01033968;AL161727;AMYH01021443;NG_010678 RPS20_13_989 pseudo 35866 INFERRED 737248 RPS16 ribosomal protein S16 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 q13.1 44615687 44618458 - 39923847 39926618 - 6480464 17881366;17220478;17353931;18697920;15189156;12588972;8706699;15883184;2016298;18318121;15635413;15489334;14702039;12477932;12082018;11875025;11790298;11101529;11082045;9582194;8889548;8722009;7821789;17361185;21628590;21145461;21319273;16712791;19559069;19773262;20198863;19417104;21182205;22863883;20811636;21832049;22939629;22586326;12777385;16196087;18274552;18457437;18781797;19596686;20639865;21139048;21693764;21890473;21906983;21963094;21987572;22145905;22178446;17203973;21853274;22505724;6188845 6217 M0QX76;M0R1M5;M0R210;M0R3H0;P62249;Q6IPX4 AB061841;ABBA01040730;AC011500;AK055869;AK315498;AMYH01009794;BC004324;BC007977;BC024970;BC071674;BC095429;BQ421722;CB107158;CB242275;CH471126;D28392;FB342983;FB711106;M60854;NM_001020 AAA60583;AAH04324;AAH07977;AAH71674;ABM84375;ABM87218;BAA05758;BAB79479;BAG37882;CAR81492;CAS91508;EAW56892;EAW56893;EAW56894;EAW56895;NP_001011;P62249 Hs.397609 1655253;2163026;2176368;5037552 D8S2279;G31561;HUM0S11D12;RP_S16_1 S16 40S ribosomal protein S16 APPROVED protein-coding ENSG00000105193 10396 04724 603675 REVIEWED 2304549 RPS20P28 ribosomal protein S20 pseudogene 28 12 12 12 p13 9724436 9724744 - 8147366 8147674 - 8147366 8147674 - 19123937 100271560 ABBA01012231;AC006511;AMYH01004223;NG_011035 RPS20_13_1202 pseudo 36452 INFERRED 1348542 RPS20P3 ribosomal protein S20 pseudogene 3 5 5 5 q21.3 103867226 103867742 + 107957001 107957700 + 107929185 107929701 + 19123937;3459254 6225 ABBA01069101;AC133134;AMYH01015539;NG_003034 RPS20A;RPS20_8_599 pseudo 10406 180463 INFERRED 2304548 RPS20P29 ribosomal protein S20 pseudogene 29 12 12 12 p13.31 9591131 9591446 + 8013045 8013360 + 8013045 8013360 + 19123937 100271561 ABBA01012215;AC006517;AMYH01004219;NG_011040 RPS20_14_1201 pseudo 36237 INFERRED 2304547 RPS20P30 ribosomal protein S20 pseudogene 30 12 12 12 q24.33 130315815 130316165 - 130701352 130701702 - 130701352 130701702 - 19123937 100271562 ABBA01019806;AC026336;AMYH01004876;NG_011045 RPS20_14_1295 pseudo 36626 INFERRED 2304546 RPS20P31 ribosomal protein S20 pseudogene 31 12 12 12 q24.2 120318363 120318694 + 120685263 120685594 + 120685263 120685594 + 19123937 100271563 ABBA01020101;AC004263;AMYH01004798;NG_011049;NG_029820 RPS20_15_1287 pseudo 35767 INFERRED 2304544 RPS20P34 ribosomal protein S20 pseudogene 34 15 15 15 q21.1 27651397 27651915 + 50758817 50759335 + 50758817 50759335 + 19123937 100271565 ABBA01039112;AC012170;AMYH01006637;NG_011060 RPS20_17_1430 pseudo 36668 INFERRED 2305342 RPS20P32 ribosomal protein S20 pseudogene 32 13 13 13 q12.13 8660589 8661100 - 26489688 26489975 - 27591654 27592165 - 19123937 100129306 ABBA01035754;AL160035;AMYH01004985;CH471075;NG_010130 EAX08391 1337967 D13S625 RPS20_15_1306 pseudo 36444 INFERRED 2304545 RPS20P33 ribosomal protein S20 pseudogene 33 14 14 14 q32.3 85889428 85889778 + 105840958 105841308 + 105840958 105841308 + 19123937 100271564 ABBA01008876;AL928654;AMYH01006080;NG_011056 RPS20_16_1416 pseudo 36725 INFERRED 2304543 RPS20P35 ribosomal protein S20 pseudogene 35 17 17 17 q 33672416 33672926 + 37011447 37011957 + 37011447 37011957 + 19123937 100271566 ABBA01031894;AC110749;AMYH01008369;NG_011067 RPS20_18_1544 pseudo 36929 INFERRED 1348521 RPS20P4 ribosomal protein S20 pseudogene 4 5 5 5 q33-qter 145482476 145483002 - 149381189 149381848 - 149401090 149401616 - 19123937;3459254 6226 ABBA01026288;AC011406;AMYH01015706;NG_003035;NG_021389 RPS20B;RPS20_6_627 pseudo 10407 180464 INFERRED 2305381 RPS20P5 ribosomal protein S20 pseudogene 5 1 1 p32-p31 56356980 56357493 - 58071485 58071998 - 19123937 100270899 ABBA01074669;AL359739;AMYH01000649;NG_010270 RPS20_1_55 pseudo 36367 INFERRED 2305328 RPS20P6 ribosomal protein S20 pseudogene 6 1 1 p21 99983761 99984108 + 101721832 101722179 + 19123937 100270900 ABBA01045430;AL109741;AMYH01000828;NG_010273 RPS20_1_80 pseudo 35629 INFERRED 2305327 RPS20P7 ribosomal protein S20 pseudogene 7 1 1 p31.1 80294438 80294960 - 82061788 82062311 - 19123937 100270901 ABBA01074355;AL138799;AMYH01000741;NG_010277 RPS20_2_68 pseudo 35911 INFERRED 2305140 RPS20P9 ribosomal protein S20 pseudogene 9 2 2 p15 63011562 63012011 + 63167008 63167457 + 19123937 100271080 ABBA01075396;AC007098;AMYH01010394;NG_011191;NG_016758 RPS20_3_230 pseudo 36472 INFERRED 1602664 RPS19BP1 ribosomal protein S19 binding protein 1 22 22 22 q13.1 23727166 23730928 - 38255044 38258806 - 39925098 39928860 - 6480464 16289379;15489334;15461802;14702039;12477932;10591208;17964266;22990118;18029348;23382074;23000965;23349863 91582 F8WFE7;Q86WX3 ABBA01055574;AK025423;AK055865;AL022312;AMYH01012779;BC037573;BC047711;CH471095;CR456443;NM_194326 AAH37573;AAH47711;CAG30329;CAK54472;CAK54771;EAW60343;EAW60344;NP_919307;Q86WX3 Hs.526933 1660027;1660258;1777288;2162747;5015881;5118444 D11S3316;GDB:335751;RH41880;RH78005;STS-W60308;WI-18448 AROS;FLJ21770;MGC52010;S19BP;dJ1104E15.4 40S ribosomal protein S19-binding protein 1;OTTHUMP00000199132;RPS19-binding protein 1;active regulator of SIRT1;homolog of mouse S19 binding protein protein-coding ENSG00000187051 28749 14674 610225 PROVISIONAL 2305130 RPS21P1 ribosomal protein S21 pseudogene 1 1 1 q42.3 208839539 208839778 + 235596300 235596539 + 19123937 100271090 ABBA01033136;AL672237;AMYH01001846;NG_011248 RPS21_1_179 pseudo 36401 INFERRED 2305862 RPS21P2 ribosomal protein S21 pseudogene 2 2 2 2 q12.2 101105785 101106141 - 106271647 106271941 - 106905200 106905556 - 19123937 100132961 ABBA01073840;AC114755;AMYH01010842;NG_010504 RPS21_1_254 pseudo 36191 INFERRED 2305141 RPS20P8 ribosomal protein S20 pseudogene 8 1 1 q32.1 176098418 176098702 + 202969183 202969467 + 19123937 100271079 ABBA01027487;AC096632;AMYH01001653;NG_011187 RPS20_2_149 pseudo 35770 INFERRED 2305570 RPS21P4 ribosomal protein S21 pseudogene 4 4 4 4 p15.32 16723214 16723578 - 15867029 15867276 - 16257860 16258224 - 19123937 100128912 ABBA01032581;AC006427;AMYH01014027;NG_009712 1694472 G42966 RPS21_2_461 pseudo 35922 INFERRED 2305860 RPS21P3 ribosomal protein S21 pseudogene 3 4 4 4 q21.21 76985074 76985437 + 79908677 79908916 + 79689603 79689966 + 19123937 100132993 ABBA01063387;AC098818;AMYH01014330;NG_010672 RPS21_2_494 pseudo 36847 INFERRED 2304929 RPS21P5 ribosomal protein S21 pseudogene 5 9 9 9 q31.3-q32 83989013 83989243 - 113489729 113489959 - 113489729 113489959 - 19123937 100271236 ABBA01042747;AL513328;AMYH01021635;NG_010685;NG_016016 RPS21_3_1008 pseudo 36359 INFERRED 2304784 RPS21P6 ribosomal protein S21 pseudogene 6 18 18 18 q21.1 41110590 41110818 + 44302938 44303166 + 44302938 44303166 + 19123937 100271365 ABBA01022317;AC090311;AMYH01008974;NG_009985 RPS21_3_1599 pseudo 36317 INFERRED 2304783 RPS21P7 ribosomal protein S21 pseudogene 7 20 20 20 p13 5063863 5064114 - 4994119 4994370 - 4994119 4994370 - 19123937 100271366 ABBA01053863;AL121890;AMYH01011690;NG_009993 RPS21_4_1681 pseudo 35577 INFERRED 6481560 RPS21P8 ribosomal protein S21 pseudogene 8 13 27551685 27551876 + 100873798 ABBA01035755;AL160035;AMYH01004985;NG_032349 pseudo 39705 INFERRED 1345472 RPS23P1 ribosomal protein S23 pseudogene 1 8 8 8 q22.1 95063186 95063690 + 98946328 98947032 + 98877253 98877757 + 19123937 93948 ABBA01037527;AMYH01018915;AP002906;NG_000953 RPS23_3_930 pseudo 16043 INFERRED 7243589 RPS23P10 ribosomal protein S23 pseudogene 10 100419471 ABBA01047318;AL590385;AMYH01001458;NG_027006 pseudo 48342 INFERRED 2305738 RPS23P2 ribosomal protein S23 pseudogene 2 4 4 4 q28.3 135704368 135704865 + 138588691 138589105 + 138369207 138369704 + 19123937;9847074 391701 ABBA01044901;AC097514;AMYH01014557;NG_009493 RPS23_2_521 pseudo 36568 INFERRED 2305129 RPS23P3 ribosomal protein S23 pseudogene 3 4 4 q13.2 64758390 64758819 + 67296810 67297239 + 19123937 100271091 ABBA01022887;AC053544;AMYH01014240;NG_011257 RPS23_1_489 pseudo 35499 INFERRED 2305128 RPS23P4 ribosomal protein S23 pseudogene 4 4 4 q31.22 143518474 143518795 - 146190962 146191283 - 19123937 100271092 ABBA01070026;AC079228;AMYH01014593;NG_011263 RPS23_1_526 pseudo 36633 INFERRED 2305127 RPS23P5 ribosomal protein S23 pseudogene 5 5 5 p15.2 13275678 13276105 - 13250347 13250774 - 19123937 100271093 ABBA01020627;AC109461;AMYH01014912;NG_011270 RPS23_2_542 pseudo ENSG00000242608 35726 INFERRED 2304782 RPS23P6 ribosomal protein S23 pseudogene 6 16 16 16 p13.13 12349751 12350046 + 12175094 12175389 + 12175094 12175389 + 19123937 100271367 ABBA01006843;AC007601;AMYH01007164;NG_010000 RPS23_4_1473 pseudo 36511 INFERRED 6482929 RPS23P7 ribosomal protein S23 pseudogene 7 17 q23.2 60474727 60475528 + 100130106 ABBA01035355;AC008026;AMYH01008543;NG_009489 1695862 SHGC-78807 pseudo 43899 INFERRED 2305612 RPS23P8 ribosomal protein S23 pseudogene 8 X X X q13.1 70536691 70537071 + 70083313 70099931 + 70182812 70183192 + 19123937 653658 ABBA01067641;AL627071;AMYH01022533;NG_009491 1787326;2141088 RP_S23;SHGC-154064 RPS23_5_1783 pseudo 35982 INFERRED 7243667 RPS23P9 ribosomal protein S23 pseudogene 9 100419472 AL451067;AMYH01001463;NG_027007 pseudo 48341 INFERRED 2305793 RPS20P27 ribosomal protein S20 pseudogene 27 11 11 q14.1 74832610 74833130 - 77524322 77524842 - 19123937;12477932 729927 ABBA01017421;AMYH01003825;AP000580;BC071734;NG_010383 Hs.660751 5038567 D3S3911 RPS20_12_1158 pseudo 36154 INFERRED 1343131 RPS24P1 ribosomal protein S24 pseudogene 1 Y Y Y q11.21 1337374 1344754 + 12875451 12882830 + 14365450 14372828 + 12815422 23756 ABBA01065677;AC004772;NG_000893 RPS24P pseudo 10412 INFERRED 2305125 RPS24P10 ribosomal protein S24 pseudogene 10 3 3 p25 15111611 15111978 - 15173343 15173710 - 19123937 100271097 ABBA01025145;AC090954;AMYH01013001;NG_011289 RPS24_3_344 pseudo 36554 INFERRED 2305715 RPS24P11 ribosomal protein S24 pseudogene 11 4 4 4 p16.1 10035048 10036140 - 9163753 9164845 - 9554655 9555747 - 19123937 100128519 ABBA01032501;AC116655;AMYH01013987;NG_010003 RPS24_6_457 pseudo 36050 INFERRED 2305124 RPS24P12 ribosomal protein S24 pseudogene 12 6 6 q21 108299405 108299798 + 107550963 107551356 + 19123937 100271098 ABBA01026178;AL591516;AMYH01016570;NG_011293;NG_013033 RPS24_3_730 pseudo 35623 INFERRED 2304607 RPS24P13 ribosomal protein S24 pseudogene 13 10 10 10 p11.22 32285938 32286441 - 32520708 32521211 - 32520708 32521211 - 19123937 100216338 ABBA01033384;AL445071;AMYH01002223;NG_009039 RPS24_7_1030 pseudo 36805 INFERRED 2305752 RPS24P14 ribosomal protein S24 pseudogene 14 11 11 11 p15.4 3585991 3586503 + 3537318 3537830 + 3580742 3581254 + 19123937 100128423 ABBA01032058;AC127526;AMYH01003346;NG_009035 1673502 GDB:4585549 RPS24_4_1115 pseudo 35744 INFERRED 68661 RPS19 ribosomal protein S19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 q13.2 47055828 47067324 + 42363988 42375484 + 1599571;1599572;1580863;6480464;7240710 9988267;15523650 17353931;15883184;16289379;18697920;15189156;12588972;8706699;19454283;19155217;18768533;18412286;17962699;17517689;17356406;17199736;17178250;17107358;17082006;17053056;16990592;16266891;16159874;15755903;15635413;15626736;15489334;15330156;15075082;12750732;12651630;12586610;12477932;11942409;17361185;22496757;21145461;21319273;17267499;11733378;11716516;11226885;11112378;10662814;10598818;10590074;9582194;8722009;1339304;19913121;20395159;20628086;20606162;20639905;20473571;19587786;19689926;19773279;20054847;20093496;20378560;20568250;16159877;21296889;22863883;21306436;21068437;22939629;21832049;21412415;20811636;15047060;16196087;21151833;21613290;17620599;22586326;19338310;23455922;23463506;22145905;22262766;15750715;19738201;19805454;21963094;21988832;22623428;23000965;23246001;21139048;21890473;21906983;22045982;22178446;23398456;19380743;21853274;22505724;22944692;6188845;22833095;20301769;23184937 6223 B0ZBD0;M0QXK4;M0QYF7;M0R140;M0R2L9;P39019 AB007155;ABBA01040816;AC010616;AF092907;AK311786;AMYH01009820;BC000023;BC007615;BC017386;BC018616;CH471126;CS401981;EU326300;M81757;NG_007080;NM_001022 AAA89070;AAD13668;AAH00023;AAH07615;AAH17386;AAH18616;ABM82749;ABW03437;ACA05898;BAA28593;BAG34729;CAL40359;EAW57071;EAW57072;EAW57073;EAW57074;NP_001013;P39019 Hs.438429 1769593;5016830 RH79941;RP_S19_1 DBA;DBA1;S19 40S ribosomal protein S19 APPROVED protein-coding 10402 04591 105650;603474 REVIEWED 732314 RPS2 ribosomal protein S2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 16 16 p13.3 1952063 1954828 - 2012062 2014827 - 1580863;6480464 16263090;15473865;15883184;15189156;12588972;16061210;18573314;17081983;16964243;15635413;15489334;15324660;12694581;12477932;12422231;11751223;9582194;8722009;8706699;2308862;16169070;21145461;21319273;17643375;19138403;16159877;21182205;22863883;20811636;22939629;21584310;16196087;15303970;16051665;18274552;18457437;18781797;19287380;21890473;21900206;21906983;21942715;21987572;22178446;22145905;17361185;21628590;17620599;22586326;22053931;22174317;22505724;6188845 6187 E9PM36;E9PMM9;E9PPT0;E9PQD7;H0YE27;H0YEN5;H3BNG3;I3L404;P15880 AB007147;AB065088;AB065089;AB082925;ABBA01030285;AC005363;AK312173;AL832857;AMYH01007046;BC001795;BC004520;BC006559;BC008329;BC008862;BC010165;BC012354;BC013833;BC016178;BC016951;BC018993;BC019021;BC020336;BC021545;BC023541;BC025677;BC029979;BC032129;BC035427;BC040830;BC052235;BC063011;BC066321;BC068051;BC071673;BC071922;BC071923;BC071924;BC073966;BC075830;BC103756;BC105985;BC106060;CH471112;NM_002952;X17206 AAH01795;AAH04520;AAH06559;AAH08862;AAH10165;AAH12354;AAH16178;AAH16951;AAH18993;AAH21545;AAH23541;AAH25677;AAH32129;AAH66321;AAH68051;AAH71673;AAH71922;AAH71923;AAH71924;AAH73966;AAH75830;AAI03757;AAI05986;AAI06061;ABM83371;ABM86582;BAA25813;BAB93525;BAB93526;BAC16801;BAG35107;CAA35078;EAW85592;EAW85593;EAW85594;EAW85595;EAW85596;NP_002943;P15880 Hs.356366;Hs.381079;Hs.498569;Hs.506997 1649282;1712348;5124329 G54162;RH65663;RP_S2_1 LLREP3;MGC102851;MGC117344;MGC117345;S2 40S ribosomal protein S2;40S ribosomal protein S4;OK/KNS-cl.6;OTTHUMP00000158896;OTTHUMP00000231872;OTTHUMP00000231876;OTTHUMP00000231878;protein LLRep3 APPROVED protein-coding ENSG00000140988 10404 04690 603624 REVIEWED 2305378 RPS24P15 ribosomal protein S24 pseudogene 15 11 11 11 p13 33405141 33405649 + 33215130 33215531 + 33258516 33259024 + 19123937 390107 ABBA01060895;AL136126;AMYH01003483;NG_009036 RPS24_5_1135 pseudo 35665 INFERRED 2304604 RPS24P17 ribosomal protein S24 pseudogene 17 16 16 16 q13 41440702 41441227 + 56940410 56940935 + 56940410 56940935 + 19123937 100216341 ABBA01025253;AC012181;AMYH01007694;NG_009042 RPS24_7_1485 pseudo 36348 VALIDATED 2304781 RPS24P18 ribosomal protein S24 pseudogene 18 18 18 18 q11.2 20493303 20493687 + 23678803 23679187 + 23678803 23679187 + 19123937 100271371 ABBA01022584;AC091021;AMYH01008900;NG_010023 1932498 REN37081 RPS24_8_1590 pseudo 36745 INFERRED 2304404 RPS24P19 ribosomal protein S24 pseudogene 19 X X X q26.2 133191745 133192273 + 132632665 132633080 + 132804960 132805488 + 19123937 100130183 ABBA01042357;AL009174;AMYH01022990;NG_009037;NG_009286 RPS24_9_1812 pseudo 35683 INFERRED 1352517 RPS24P2 ribosomal protein S24 pseudogene 2 14 14 14 q24.3 56100168 56100682 - 75131725 75132446 - 76062072 76062586 - 19123937 326321 ABBA01030697;AC007182;AMYH01005860;NG_002571;NG_027694 RPS24_8_1390 pseudo 19791 INFERRED 1352060 RPS24P3 ribosomal protein S24 pseudogene 3 14 14 14 q31.1 61839086 61839642 - 80868834 80869590 - 81799181 81799737 - 19123937 326322 ABBA01030609;AL121769;AMYH01005904;NG_002572 RPS24_9_1397 pseudo 19797 INFERRED 2304605 RPS24P16 ribosomal protein S24 pseudogene 16 15 15 15 q23 44412244 44412751 + 67524745 67525252 + 67524745 67525252 + 19123937 100216340 ABBA01038804;AC012568;AMYH01006731;NG_009041;NG_033007 RPS24_6_1447 pseudo 35542 INFERRED 2304489 RPS24P4 ribosomal protein S24 pseudogene 4 1 1 1 q42.2 204013673 204014178 - 228814375 228814781 - 230747689 230748194 - 19123937 729257 ABBA01033026;AL158214;AMYH01001814;NG_009044 1334879;1335126;1335182;1339767;1768760;1785174 AFM267xa5;D1S1668;D1S1670;D1S2805;D1S2833;SHGC-171533 RPS24_2_174 pseudo 35852 INFERRED 2305126 RPS24P5 ribosomal protein S24 pseudogene 5 1 1 p36.13-q41 153077120 153077488 - 179969575 179969943 - 19123937 100271094 ABBA01027804;AL590632;AMYH01001534;NG_011274 RPS24_1_136 pseudo 36026 INFERRED 2304606 RPS24P6 ribosomal protein S24 pseudogene 6 2 2 2 q11.1 89928670 89929159 + 95578156 95578645 + 95578156 95578645 + 19123937 100216339 ABBA01003580;AC097374;AMYH01010683;NG_009040 RPS24_2_250 pseudo 36240 INFERRED 2304603 RPS24P7 ribosomal protein S24 pseudogene 7 2 2 2 p15 61875378 61875885 + 62030161 62030668 + 62030161 62030668 + 19123937 100216342 ABBA01075371;AC108039;AMYH01010387;NG_009043 RPS24_1_225 pseudo 35737 INFERRED 2304608 RPS24P8 ribosomal protein S24 pseudogene 8 3 3 3 p21.31 45139581 45140097 - 45201190 45201706 - 45201190 45201706 - 19123937 100216336 ABBA01024733;AC105902;AMYH01013126;NG_009034 5122802 D10S2201 RPS24_4_368 pseudo 37016 INFERRED 2304475 RPS24P9 ribosomal protein S24 pseudogene 9 3 3 3 q21.2 123926159 123926761 - 126989181 126989783 - 125506491 125507093 - 19123937 100132496 ABBA01016406;AC092902;AMYH01013445;NG_010758 RPS24_5_400 pseudo 35711 INFERRED 2291805 RPS25P1 ribosomal protein S25 pseudogene 1 11 11 11 p14.1 27749147 27749628 + 27559642 27560332 + 27603166 27603647 + 19123937 283114 ABBA01060969;AC104563;AMYH01003456;NG_003216 RPS25_2_1129 pseudo 34027 INFERRED 2304780 RPS25P10 ribosomal protein S25 pseudogene 10 22 22 22 q13.1 27398542 27398996 + 43488140 43488594 + 43488140 43488594 + 19123937 100271372 ABBA01017909;AL022237;AMYH01012825;NG_010031 RPS25_3_1755 pseudo 36078 INFERRED 2305090 RPS25P2 ribosomal protein S25 pseudogene 2 1 1 q32.2 184573333 184573813 + 211346760 211347240 + 19123937 100271100 ABBA01048194;AC092017;AMYH01001698;NG_011304 RPS25_1_159 pseudo 36701 INFERRED 2305089 RPS25P3 ribosomal protein S25 pseudogene 3 2 2 p24.1 20668432 20668806 - 20806040 20806414 - 19123937 100271101 ABBA01018473;AC012065;AMYH01010155;NG_011312 RPS25_1_198 pseudo 36073 INFERRED 736603 RPS20 ribosomal protein S20 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009] 8 8 8 q12 52972573 52978977 - 57148167 57149623 - 56980739 56987140 - 6480464 21145461;21319273;8479924;15231747;17220478;17373842;15883184;15189156;18029348;12588972;8706699;18391951;16968546;15489334;12477932;12107412;11875025;9582194;8722009;8674114;7821789;20546612;16712791;21182205;22863883;22990118;21832049;22939629;16196087;22145905;18274552;18624398;18781797;20972266;21139048;21890473;21906983;21987572;17361185;21628590;19380743;21853274;22053931;22505724;22534017;6188845 6224 E5RIP1;E5RJX2;G3XAN0;P60866 AB007156;AB061842;ABBA01041759;ABBA01041760;AC107376;AK130961;AK301342;AK311808;AMYH01018734;AV716603;BC007507;BC087850;BQ064297;CB138358;CD671362;CH471068;D28358;L06498;NM_001023;NM_001146227 AAA60286;AAH07507;AAH87850;ABM84138;ABM87540;BAA05724;BAA25820;BAB79480;BAG34751;BAG62890;EAW86770;EAW86771;EAW86772;NP_001014;NP_001139699;P60866 Hs.8102 2184691;5038567;5094906 D3S3911;D8S1961;RPS20 FLJ27451;MGC102930;S20 40S ribosomal protein S20;OTTHUMP00000226396;OTTHUMP00000226397;OTTHUMP00000226399;OTTHUMP00000226402;OTTHUMP00000226403 APPROVED protein-coding 10405 04728 603682 REVIEWED 2305817 RPS25P4 ribosomal protein S25 pseudogene 4 3 3 3 p21.1 53475860 53476351 - 53483771 53503349 - 53508684 53509175 - 19123937 391539 ABBA01024473;AC005905;AC092035;AMYH01013193;NG_010598 1745405 GDB:606284 RPS25_2_371 pseudo 35669 INFERRED 2305639 RPS25P8 ribosomal protein S25 pseudogene 8 9 9 9 q33.2 96439923 96440408 - 124831419 124831853 - 125791611 125792096 - 6480464 19123937 100131196 ABBA01043718;AC007066;AMYH01021695;NG_010642 RPS25_6_1012 pseudo 36075 INFERRED 2305087 RPS25P7 ribosomal protein S25 pseudogene 7 6 6 p25 5143112 5143558 - 3914109 3914555 - 19123937 100271103 ABBA01021996;AL590004;AMYH01016038;NG_011323 RPS25_5_649 pseudo 36585 INFERRED 2305088 RPS25P5 ribosomal protein S25 pseudogene 5 3 3 q21-q25 147485410 147485892 - 149074909 149075391 - 19123937 100271102 ABBA01058945;AC073522;AMYH01013570;NG_011318 RPS25_3_418 pseudo 35788 INFERRED 2305764 RPS25P6 ribosomal protein S25 pseudogene 6 This gene appears to be an intronless pseudogene derived from the RPS25 gene. It contains an open reading frame that could produce a protein of the same or nearly the same size as that of the RPS25 gene, but there is no evidence for transcription of this locus so it is considered a pseudogene. [provided by RefSeq, Jul 2008] 5 5 5 q23.1 111335945 111336431 - 115415452 115415940 - 115387553 115388039 - 6480464 19123937;11181995 401206 ABBA01069028;AC034236;AMYH01015563;CH471086;NG_006648 EAW48944;EAW48945 1644910;1780908 L28191;bac53227S RPS25_4_602 APPROVED pseudo 35532 INFERRED 1345377 RPS26P1 ribosomal protein S26 pseudogene 1 21 21 21 q22.12 22874587 22874704 - 36598054 36598171 - 37676184 37676301 - 10830953 54024 ABBA01057391;AP000692;AP001725;NG_000905 RPS26P pseudo 10415 INFERRED 2304779 RPS25P9 ribosomal protein S25 pseudogene 9 10 10 10 q22 65237859 65238125 - 71958729 71958995 - 71958729 71958995 - 19123937 100271373 ABBA01019620;AL731540;AMYH01002811;NG_010036 RPS25_7_1060 pseudo 36936 INFERRED 1601905 RPS26P10 ribosomal protein S26 pseudogene 10 8 8 8 q21.3 89342591 89343043 - 93225294 93225965 - 93156235 93156687 - 19123937 401470 ABBA01037424;AC104339;AMYH01018880;NG_005790 RPS26_16_925 pseudo 32201 INFERRED 2305086 RPS26P12 ribosomal protein S26 pseudogene 12 1 1 q24 148000905 148001238 - 174891238 174891571 - 19123937 100271104 ABBA01027874;AMYH01001513;NG_009954;Z99127 RPS26_2_128 pseudo 35487 INFERRED 2305084 RPS26P13 ribosomal protein S26 pseudogene 13 1 1 q32.2 182101552 182101898 - 208870697 208871043 - 19123937 100271106 ABBA01048228;AC119750;AMYH01001693;NG_009965 RPS26_4_158 pseudo 35784 INFERRED 2305326 RPS26P14 ribosomal protein S26 pseudogene 14 1 1 p32.3 50733493 50733840 + 52446145 52446492 + 19123937 100270902 ABBA01074783;AL445685;AMYH01000618;NG_010283 RPS26_1_49 pseudo 36992 INFERRED 1602142 RPS26P11 ribosomal protein S26 pseudogene 11 X X X q13.1 111426778 111427227 - 71180984 71181549 + 71264259 71264824 + 19123937;15772651;21145461;22145905;21628590 441502 Q5JNZ5 AL929401;AMYH01022553;AW972305;NG_021430;NG_029583;NR_002309 Hs.449523 1661356;1683549;5109787 D17S1486E;G29314;RH65270 RPS26L1;RPS26_22_1784;bA366E13.1 pseudo 31817 VALIDATED 2304862 RPS26P15 ribosomal protein S26 pseudogene 15 1 1 1 p32.2 56806758 56807216 - 58294297 58294767 - 58521716 58522174 - 19123937;11181995 644928 ABBA01074667;AL445193;AMYH01000650;CH471059;NG_010340 EAX06635 RPS26_1_56 pseudo 35680 INFERRED 2305717 RPS26P16 ribosomal protein S26 pseudogene 16 1 1 1 q25.2 152113230 152113673 - 177271065 177271410 - 179004366 179004809 - 19123937 730177 ABBA01027825;AL139132;AMYH01001527;NG_009599 RPS26_3_133 pseudo 35557 VALIDATED 2304366 RPS26P17 ribosomal protein S26 pseudogene 17 1 1 1 q41 191728349 191728634 + 218511888 218512173 + 218511888 218512173 + 19123937 391165 ABBA01048105;AC096638;AMYH01001736;NG_011316 RPS26_2_165 pseudo 36681 INFERRED 2305082 RPS26P18 ribosomal protein S26 pseudogene 18 2 2 p24 15455226 15455573 - 15537559 15537906 - 19123937 100271108 ABBA01015679;AC007738;AMYH01010131;NG_009977;NG_032964 RPS26_5_195 pseudo 35782 INFERRED 2305080 RPS26P19 ribosomal protein S26 pseudogene 19 2 2 q21 121915235 121915584 - 128604305 128604654 - 19123937 100271110 ABBA01040190;AC006011;AMYH01011024;NG_009992 1682575;1693830;2139232;2144008;2217790 Cda1le02;G27355;POLR2D_3413;RH78016;SHGC-58198 RPS26_6_273 pseudo 36377 INFERRED 2303671 RPS26P2 ribosomal protein S26 pseudogene 2 9 9 9 p21.1 30760627 30761067 - 30821698 30835858 - 30831807 30832247 - 6480464 19123937 646753 ABBA01065097;AL353735;AMYH01019315;NG_009772 RPS26_19_971;bA98O11.1 pseudo 23662 VALIDATED 2305587 RPS26P20 ribosomal protein S26 pseudogene 20 2 2 2 q31.1 165847927 165848586 - 171939600 171940259 - 172231354 172232013 - 6480464 19123937 644166 ABBA01020723;AC008065;AMYH01011261;NG_010373 1649045 SHGC-59287 RPS26_7_290 pseudo 36485 INFERRED 2305085 RPS26P21 ribosomal protein S26 pseudogene 21 3 3 q13.33 117425984 117426331 + 119017512 119017859 + 19123937 100271105 ABBA01061586;AC092981;AMYH01013418;NG_009959 RPS26_3_394 pseudo 36469 INFERRED 2305078 RPS26P22 ribosomal protein S26 pseudogene 22 3 3 q13 122859438 122859774 - 124452265 124452601 - 19123937 100271112 ABBA01016433;AC022336;AMYH01013438;NG_010008;NG_017037 RPS26_8_399 pseudo 36261 INFERRED 2305083 RPS26P23 ribosomal protein S26 pseudogene 23 4 4 q26 121144348 121144689 + 123761504 123761845 + 19123937 100271107 ABBA01044743;AC021205;AMYH01014494;NG_009972;NG_029067 RPS26_4_515 pseudo 36332 INFERRED 2305077 RPS26P24 ribosomal protein S26 pseudogene 24 4 4 q12 55723239 55723569 - 58219165 58219495 - 19123937 100271113 ABBA01003453;AC073196;AMYH01014199;NG_010013 RPS26_9_482 pseudo 36917 INFERRED 2304857 RPS26P25 ribosomal protein S26 pseudogene 25 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPS26 gene, there is no evidence of transcription. The locus is thus being annotated as a pseudogene.[provided by RefSeq, Feb 2009] 4 4 4 q26 111426745 111427237 - 114354544 114355027 - 114135094 114135583 - 6480464 19123937;7945460 728937 ABBA01063831;AC004057;CH471057;NG_009006;NG_010542 EAX06294 RPS26_10_512 APPROVED pseudo 35730 INFERRED 2305081 RPS26P26 ribosomal protein S26 pseudogene 26 5 5 q13.3 70563464 70563810 + 74670288 74670634 + 19123937 100271109 ABBA01061944;AC008897;AMYH01015409;NG_009984;NG_029492 RPS26_5_578 pseudo 36029 INFERRED 2304928 RPS26P27 ribosomal protein S26 pseudogene 27 5 5 5 q11-q12 76055608 76055942 - 80151324 80151658 - 80151324 80151658 - 19123937 100271237 ABBA01062045;AC022493;AMYH01015445;NG_010690;NG_016607 RPS26_12_587 pseudo 35636 INFERRED 2305732 RPS26P29 ribosomal protein S26 pseudogene 29 6 6 6 p24.3 8736188 8736534 + 7451435 7451781 + 7506436 7506782 + 19123937 442158 ABBA01022044;AL138878;AMYH01016064;NG_009788 RPS26_6_653 pseudo 36456 INFERRED 2304393 RPS26P28 ribosomal protein S26 pseudogene 28 5 5 5 p15.1 16927461 16927900 - 16955321 16955776 - 16902336 16902775 - 19123937;11181995 643003 AC010310;AMYH01014933;CH471102;NG_006027 EAX08019 RPS26_11_544 pseudo 36149 INFERRED 2305079 RPS26P30 ribosomal protein S26 pseudogene 30 7 7 7 p15.3 20868739 20869076 + 20883249 20883586 + 20883249 20883586 + 19123937 100271111 AACC02000007;ABBA01056679;AC005251;AMYH01017105;CH236948;NG_009999 RPS26_7_791 pseudo 35574 INFERRED 1605161 RPS26P3 ribosomal protein S26 pseudogene 3 9 9 9 p23 9025291 9025730 + 9080773 9081423 + 9090873 9091312 + 19123937;10557312 441386 ABBA01065356;AL353638;AMYH01019222;NG_004800 RPS26_11_962;bA338L20.1 pseudo 23411 INFERRED 2305804 RPS26P31 ribosomal protein S26 pseudogene 31 7 7 7 q31.32 117125659 117126092 + 122098173 122109066 + 122321347 122321780 + 6480464 19123937 645979 AACC02000001;ABBA01057744;AC006463;AMYH01017899;CH236947;NG_009433;NG_016215 1710048;1850332 D7S1906;SHGC-82300 RPS26_8_840 pseudo 36614 INFERRED 1348628 RPS21 ribosomal protein S21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 20 20 q13.3 60395516 60396971 + 60962121 60963576 + 6480464 10079194;15189156;18029348;12588972;8706699;15883184;8332502;16341674;16189514;12477932;11875025;11780052;10900511;9582194;8889548;8722009;7805865;7786314;16169070;21145461;21319273;21832049;22939629;22863883;21139048;21890473;21906983;21987572;17361185;22505724;6188845 6227 P63220;Q6FGH5;Q8WVC2;Q9BYK1;Q9BYK2 AB007157;AB061843;ABBA01040087;ABBA01040088;AJ250907;AL121832;AMYH01012053;AV758927;BC018140;BC021990;BC027976;BC071927;BM840443;CF124568;CH471077;CR542132;HB462033;HB867505;HB868392;HB871649;HB879510;HB889355;HC924914;HC925801;HC929058;HC936919;HC946764;L04483;NM_001024;X79563 AAA99893;AAH18140;AAH21990;ABM84506;ABM84508;ABM85685;ABM85943;ABM85955;BAA25821;BAB79481;CAA56100;CAB83213;CAG46929;CBA11147;CBF57690;CBF58172;CBF59928;CBF64055;CBF68808;CBU83191;CBU83607;CBU85172;CBU88931;CBU93682;EAW75367;EAW75368;EAW75369;EAW75370;EAW75371;NP_001015;P63220 Hs.190968 1650878;1669353;1693492;1694472;2162753;5024589 G42966;RH11604;RH12076;RH64856;RP_S21;SHGC-58297 S21 40S ribosomal protein S21;8.2 kDa differentiation factor;OTTHUMP00000031485 APPROVED protein-coding ENSG00000171858 10409 01605 180477 REVIEWED 2304926 RPS26P33 ribosomal protein S26 pseudogene 33 7 7 7 q21.3-q22.1 92802127 92802372 - 98107863 98108108 - 98107863 98108108 - 19123937 100271239 AACC02000085;ABBA01045720;AC074121;AMYH01017716;CH236956;NG_010704 RPS26_14_825 pseudo 36227 INFERRED 2305704 RPS26P32 ribosomal protein S26 pseudogene 32 7 7 7 p15.3 22798821 22799270 - 22779614 22780259 - 22813189 22813638 - 19123937;12853948 389472 AACC02000007;ABBA01056696;AC073072;AMYH01017107;CH236948;NG_004809 EAL24264 1335065;7186576 D7S629 RPS26;RPS26_13_792 pseudo 35753 INFERRED 2305076 RPS26P34 ribosomal protein S26 pseudogene 34 8 8 q21.13 78544475 78544823 + 82539504 82539852 + 19123937 100271114 ABBA01004052;AC090255;AMYH01018830;NG_010018 RPS26_9_922 pseudo 36894 INFERRED 2304416 RPS26P35 ribosomal protein S26 pseudogene 35 8 8 8 q24.12 115962291 115962745 - 119843187 119843640 - 119774006 119774459 - 6480464 19123937 441377 ABBA01037809;AMYH01018986;AP004217;NG_010179 RPS26_17_946 pseudo 36229 INFERRED 2304925 RPS26P36 ribosomal protein S26 pseudogene 36 8 8 8 q24.3 140457583 140457831 - 144147332 144147580 - 144147332 144147580 - 19123937 100271240 ABBA01005274;AC083982;AMYH01019098;NG_010708 1768609;5022433;5108539 D8S304;D8S315;G17261 RPS26_18_953 pseudo 36561 INFERRED 2304927 RPS26P37 ribosomal protein S26 pseudogene 37 9 9 9 q22.3 68326840 68327187 + 97885803 97886150 + 97885803 97886150 + 19123937 100271238 ABBA01043624;AL354893;AMYH01021532;NG_010696 2151769 STS-H94332 RPS26_12_999 pseudo 36875 INFERRED 2305103 RPS26P38 ribosomal protein S26 pseudogene 38 10 10 10 q23.2 83148891 83149311 + 89392343 89392763 + 89402363 89402783 + 6480464 19123937 100129552 ABBA01021964;AL138767;AMYH01002932;NG_010063 RPS26_15_1076 pseudo 36406 INFERRED 2305868 RPS26P39 ribosomal protein S26 pseudogene 39 10 10 10 q26.13 118637491 118638697 - 124920950 124922156 - 124930960 124932166 - 6480464 19123937 100128168 ABBA01062836;AC012391;AMYH01003146;NG_010876 RPS26_21_1107 pseudo 36958 INFERRED 2305855 RPS26P40 ribosomal protein S26 pseudogene 40 10 10 10 q22.1 65835875 65836231 - 72223929 72224285 - 72553923 72554279 - 19123937 338611 ABBA01019635;AL358817;AMYH01002815;NG_010929 RPS26_20_1061 pseudo 36906 INFERRED 1605445 RPS26P4 ribosomal protein S26 pseudogene 4 21 21 21 q22.2 26061099 26061541 - 39785175 39785814 - 40863402 40863844 - 19123937 692146 ABBA01009337;AF121781;AMYH01012252;NG_005578 RPS26_32_1733 pseudo 23775 INFERRED 2304542 RPS26P41 ribosomal protein S26 pseudogene 41 10 10 10 q22.2 68583548 68583808 + 75297951 75298211 + 75297951 75298211 + 19123937 100271567 ABBA01020319;AL359074;AMYH01002828;NG_011073 RPS26_13_1064 pseudo 36062 INFERRED 2304538 RPS26P43 ribosomal protein S26 pseudogene 43 11 11 11 q24.1 120079770 120080002 - 122920442 122920674 - 122920442 122920674 - 19123937 100271571 ABBA01031277;AMYH01004098;AP000926;NG_011092 RPS26_22_1185 pseudo 36675 INFERRED 2304540 RPS26P44 ribosomal protein S26 pseudogene 44 12 12 12 p13.3 5191907 5192253 + 3578116 3578462 + 3578116 3578462 + 19123937 100271569 ABBA01048778;AC005908;AMYH01004188;NG_011083 RPS26_16_1195 pseudo 36927 INFERRED 2304539 RPS26P45 ribosomal protein S26 pseudogene 45 12 12 12 q15 69480126 69480444 + 69816457 69816775 + 69816457 69816775 + 19123937 100271570 ABBA01026542;AC117502;AMYH01004566;NG_011087 1762781 SHGC-146563 RPS26_17_1256 pseudo 36944 INFERRED 2304537 RPS26P46 ribosomal protein S26 pseudogene 46 12 12 12 p13.1 18323077 18323415 - 13174199 13174537 - 13174199 13174537 - 19123937 100271572 ABBA01067857;AC023790;AMYH01004292;NG_011095 5094722 AAC040Z RPS26_23_1212 pseudo 35807 INFERRED 2304536 RPS26P48 ribosomal protein S26 pseudogene 48 14 14 14 q31 58735781 58736123 - 78697620 78697962 - 78697620 78697962 - 19123937 100271574 ABBA01030638;AF099810;AMYH01005888;NG_011106 RPS26_26_1396 pseudo 35519 INFERRED 2304541 RPS26P42 ribosomal protein S26 pseudogene 42 10 10 10 q22 70173629 70173884 + 76885374 76885629 + 76885374 76885629 + 19123937 100271568 ABBA01020264;AL392111;AMYH01002837;NG_011080 RPS26_14_1066 pseudo 36243 INFERRED 2304868 RPS26P47 ribosomal protein S26 pseudogene 47 13 13 13 q32.3 82036633 82037090 - 99990056 99990539 - 101192070 101192526 - 19123937;12853948 400156 ABBA01027088;AL136526;AMYH01005334;NG_011410 RPS26;RPS26L;RPS26_24_1332 pseudo 36368 INFERRED 2304535 RPS26P49 ribosomal protein S26 pseudogene 49 14 14 14 q32.33 85353499 85353833 - 105297173 105297507 - 105297173 105297507 - 19123937 100271575 ABBA01008845;AL590326;AMYH01006067;NG_011113 RPS26_27_1414 pseudo 35514 INFERRED 1343730 RPS26P5 ribosomal protein S26 pseudogene 5 21 21 q21.1 2663835 2664257 - 17493563 17493985 - 19123937 387495 ABBA01057095;AMYH01012142;AP001346;NG_009769 RPS26_31_1718 pseudo 23776 VALIDATED 2304534 RPS26P51 ribosomal protein S26 pseudogene 51 16 16 16 p13.3 7387628 7387974 - 7176294 7176640 - 7176294 7176640 - 19123937 100271576 ABBA01026842;AC022206;AMYH01007125;NG_011117 RPS26_28_1470 pseudo 36254 INFERRED 2304861 RPS26P50 ribosomal protein S26 pseudogene 50 15 15 15 q22.31 41763035 41763493 + 62672209 62672667 + 64885156 64885614 + 6480464 19123937 644934 ABBA01038880;AC090543;AMYH01006711;NG_010374 RPS26_18_1443 pseudo 35615 INFERRED 2304533 RPS26P52 ribosomal protein S26 pseudogene 52 16 16 16 p13.3 14191379 14191726 - 14016189 14016536 - 14016189 14016536 - 19123937 100271577 ABBA01006877;AC010401;AMYH01007176;NG_011121 RPS26_29_1475 pseudo 36863 INFERRED 2304977 RPS26P53 ribosomal protein S26 pseudogene 53 17 17 17 p13.1 8495393 8495854 + 8405250 8405710 + 8464525 8464985 + 6480464 19123937 728823 ABBA01054917;AC025518;AMYH01008090;NG_011282 RPS26_19_1511 pseudo 35582 INFERRED 2304972 RPS26P55 ribosomal protein S26 pseudogene 55 19 19 19 q13.11 31736658 31737390 - 39716099 39716831 - 35024259 35024991 - 19123937 100129650 ABBA01018723;AC008747;AMYH01009717;NG_010591 RPS26_30_1651 pseudo ENSG00000239210 36500 INFERRED 2304729 RPS26P56 ribosomal protein S26 pseudogene 56 X X X q25 128931011 128931309 + 128542300 128542598 + 128542300 128542598 + 19123937 100271400 AL022577;AMYH01022962;NG_010217 RPS26_23_1811 pseudo 35858 INFERRED 2305092 RPS26P54 ribosomal protein S26 pseudogene 54 18 18 18 q21.32 54146826 54147279 + 55579770 55580117 + 57428764 57429217 + 6480464 21145461;19123937;21628590 100131971 ABBA01056171;AC098847;AMYH01009040;NG_010682 RPS26_21_1607 pseudo 36868 INFERRED 1604430 RPS26P6 ribosomal protein S26 pseudogene 6 8 8 8 q22.3 98092985 98093451 + 101977075 101977622 + 101907964 101908430 + 6480464 19123937 392256 ABBA01037589;AC027373;AMYH01018929;NG_003189 RPS26_10_933 pseudo 31090 INFERRED 2304622 RPS26P58 ribosomal protein S26 pseudogene 58 X X X p22.11 28570497 28570956 - 24357428 24364247 - 24447607 24448066 - 19123937 729188 ABBA01072321;AC004552;AMYH01022164;CH471074;NG_005780 EAW99018 RPS26_33_1769 pseudo 36571 INFERRED 2304728 RPS26P57 ribosomal protein S26 pseudogene 57 X X X q25 124206921 124207255 - 123822354 123822688 - 123822354 123822688 - 19123937 100271401 ABBA01036493;AMYH01022947;NG_010223;NG_013249;Z85995 RPS26_34_1808 pseudo 36537 INFERRED 2303880 RPS26P8 ribosomal protein S26 pseudogene 8 17 17 q21.31 41041689 41042466 + 43685906 43686369 + 6480464 19123937 644191 ABBA01031185;AC126544;AC225613;AMYH01008444;NG_009394 RPS26_20_1551 pseudo 31329 INFERRED 2303689 RPS26P7 ribosomal protein S26 pseudogene 7 8 8 q12.1 55493914 55494371 - 59500890 59501347 - 19123937 619443 ABBA01041789;AC068522;AMYH01018743;NG_009773 HsT24280;RPS26_15_908 pseudo 20077 VALIDATED 1353220 RPS26P9 ribosomal protein S26 pseudogene 9 14 14 14 q11.1 945673 946020 - 21084803 21085150 - 21084803 21085150 - 19123937 446209 ABBA01061233;AL163195;AMYH01005590;NG_009962 RPS26_25_1338 pseudo 31821 INFERRED 1353685 RPS27AP1 ribosomal protein S27a pseudogene 1 17 17 17 p13.1 10193237 10193786 + 10102663 10103409 + 10162030 10162579 + 19123937;10772958 103911 ABBA01054973;AC005291;AC083783;AMYH01008105;NG_000960 RPS27AP;RPS27A_6_1513 pseudo 17121 INFERRED 2304775 RPS27AP10 ribosomal protein S27a pseudogene 10 5 5 5 q31 137045249 137045707 + 140968505 140968963 + 140968505 140968963 + 19123937 100271377 ABBA01026408;AC008781;AMYH01015661;NG_009844 RPS27A_3_621 pseudo 36570 INFERRED 2305344 RPS27AP11 ribosomal protein S27a pseudogene 11 6 6 6 q21 114644160 114644696 + 114009356 114009907 + 113902665 113903201 + 6480464 19123937;22108332 728590 ABBA01026068;AL357519;AMYH01016604;NG_010049 RPS27A_4_740 pseudo 36126 INFERRED 2305896 RPS27AP12 ribosomal protein S27a pseudogene 12 7 7 7 q36.3 151412063 151412607 + 156677791 156678335 + 156985030 156985574 + 6480464 19123937;22108332 100130446 AACC02000068;ABBA01032364;AC004898;AMYH01018191;CH236954;NG_010744 RPS27A_5_866 pseudo 35732 INFERRED 2304350 RPS27AP13 ribosomal protein S27a pseudogene 13 8 8 8 q11.23 50789619 50790090 - 54962121 54962592 - 54799568 54800039 - 19123937 100130300 ABBA01041727;AC113194;AMYH01018723;NG_011310 RPS27A_4_904 pseudo 36667 INFERRED 2304774 RPS27AP14 ribosomal protein S27a pseudogene 14 9 9 9 p24.3 1082406 1082859 - 1164414 1164867 - 1164414 1164867 - 19123937 100271378 ABBA01065448;AL356498;AMYH01019183;NG_010076 RPS27A_5_955 pseudo 36530 INFERRED 2304773 RPS27AP15 ribosomal protein S27a pseudogene 15 9 9 9 q21.12 45928919 45929371 - 75356068 75356520 - 75356068 75356520 - 19123937 100271379 ABBA01033864;AL591662;AMYH01021406;NG_010082 RPS27A_6_985 pseudo 35817 INFERRED 2305880 RPS27AP16 ribosomal protein S27a pseudogene 16 16 16 16 q21 45593777 45594303 - 59646790 59664799 - 61089319 61089845 - 6480464 19123937;22108332 643358 ABBA01025348;AC026473;AMYH01007723;NG_010157 1709100 SHGC-85708 RPS27A_8_1488 pseudo 36855 INFERRED 2305482 RPS27AP17 ribosomal protein S27a pseudogene 17 X X X p22.31 11133231 11133923 + 6917370 6918062 + 6907370 6908062 + 19123937 392425 ABBA01029197;AC130893;AMYH01022056;CH471074;NG_011207 EAW98745 RPS27A_9_1763 pseudo 36877 INFERRED 1343302 RPS23 ribosomal protein S23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 5 5 5 q14.2 77474126 77479222 - 81604895 81609991 - 81569139 81574235 - 6480464 21628590;21145461;21319273;15189156;12588972;8706699;15883184;8415000;15635413;15489334;14702039;12477932;9582194;8889548;8722009;7829101;7821789;21182205;22863883;21666788;22939629;17342744;21151833;22586326;19471022;21907836;18274552;18457437;18781797;21139048;21890473;21906983;21987572;21853274;22174317;22505724;22944692 6228 A8K517;D6R9I7;D6RD47;D6RDJ2;D6RIX0;P62266 AB007158;ABBA01062071;AC010598;AI955885;AK092335;AK291132;AK311772;AMYH01015451;BC046998;BC070221;BG567497;BI497419;BM476492;BU533156;BU594771;CF129812;CH471084;CR456996;D14530;D28396;NM_001025 AAH70221;BAA03400;BAA05762;BAA25822;BAF83821;BAG34715;CAG33277;EAW95887;EAW95888;NP_001016;P62266 Hs.527193 1651265;1662288;1668403;1694796;1770043;2141088;5107578 D14530;G43620;RH66050;RH71320;RP_S23;STS-N27409;STS-W81069 FLJ35016;S23 40S ribosomal protein S23;OTTHUMP00000222330;OTTHUMP00000222332;OTTHUMP00000222333;OTTHUMP00000222334;OTTHUMP00000222652;OTTHUMP00000222653;homolog of yeast ribosomal protein S28 APPROVED protein-coding ENSG00000186468 10410 04729 603683 REVIEWED 1606153 RPS27AP2 ribosomal protein S27a pseudogene 2 20 20 20 p11.2 17571931 17572472 + 17445388 17446052 + 17497446 17497987 + 19123937 140752 ABBA01054024;AL031664;AMYH01011737;NG_000995;NG_012423 RPS27A_7_1686;dJ531H16.4 pseudo 16572 INFERRED 1346749 RPS27AP3 ribosomal protein S27a pseudogene 3 20 20 20 q11.2 32385244 32385757 + 35111228 35111501 + 35677641 35678154 + 19123937 140714 ABBA01006609;AL391114;AMYH01011892;NG_000985 RPS27AP;RPS27A_8_1699;bA332A4.3 pseudo 16538 INFERRED 1348750 RPS27AP4 ribosomal protein S27a pseudogene 4 14 14 14 q12 7592168 7592674 - 26797633 26798339 - 27727892 27728398 - 19123937 326323 ABBA01061367;AL356015;AMYH01005623;NG_002573 RPS27A_7_1343 pseudo 19775 INFERRED 2304778 RPS27AP5 ribosomal protein S27a pseudogene 5 1 1 1 q31.2 165794987 165795533 + 192685267 192685813 + 192685267 192685813 + 19123937 100271374 ABBA01027643;AL136454;AMYH01001591;NG_010047 RPS27A_1_141 pseudo 36867 INFERRED 2305048 RPS27AP6 ribosomal protein S27a pseudogene 6 1 1 q21 123969400 123969802 - 150853708 150854110 - 19123937 100271144 ABBA01049359;AL355860;AMYH01001384;NG_010216;NG_028248 RPS27A_1_97 pseudo 36236 INFERRED 734142 RPS24 ribosomal protein S24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008] 10 10 q22 79463580 79470480 + 79793518 79816571 + 6480464;7240710 21145461;21319273;18412286;17186470;18230666;18697920;15189156;18029348;12588972;8706699;15883184;16381901;16344560;16341674;15489336;15489334;12766061;12477932;11230166;11076863;10409428;9582194;9027498;8722009;8647458;2210388;1588318;19689926;19773262;20378560;20434207;16196087;21182205;22863883;22939629;23455922;21890473;21906983;22586326;20301769;19738201;19805454;21139048;23398456;21963094;21988832;22623428;23000965;23246001;21853274;22505724;22944692;23084401;23184937 6229 E7ETK0;P62847 AB007159;ABBA01020223;AF147330;AK311776;AK311910;AL512628;AMYH01002851;BC000523;BC003149;BC071926;BE300488;BG610671;BG944046;BM745909;BX537975;BX647260;CD176901;CD677556;CH471083;DB116225;M31520;NG_012633;NM_001026;NM_001142282;NM_001142283;NM_001142284;NM_001142285;NM_033022;U12202 AAA36588;AAB08006;AAB08007;AAH00523;AAH71926;BAG34719;BAG34851;CAD97939;CAL38254;CAL38666;EAW54618;EAW54619;EAW54620;EAW54621;EAW54622;EAW54623;EAW54624;EAW54625;EAW54626;EAW54627;NP_001017;NP_001135754;NP_001135755;NP_001135756;NP_001135757;NP_148982;P62847 Hs.280130 2160162;5037552;5109763;5122802 D10S2201;D14S647E;D8S2279;RP_S24_2 DBA3;DKFZp686N1586;S24 40S ribosomal protein S24;OTTHUMP00000019919;OTTHUMP00000035998 APPROVED protein-coding ENSG00000138326 10411 03877 602412;610629 REVIEWED 2304777 RPS27AP8 ribosomal protein S27a pseudogene 8 3 3 3 q26.31 170341944 170342385 - 171943218 171943659 - 171943218 171943659 - 19123937 100271375 ABBA01058654;AC092964;AMYH01013652;NG_010054 RPS27A_2_437 pseudo 36361 INFERRED 2304854 RPS27AP7 ribosomal protein S27a pseudogene 7 2 2 2 p16.3 47949623 47950570 + 47963610 47964557 + 48110106 48111053 + 19123937 728971 ABBA01075178;AC079807;AMYH01010329;NG_008397;NG_010726 RPS27A_2_217 pseudo 35735 INFERRED 2304776 RPS27AP9 ribosomal protein S27a pseudogene 9 5 5 5 q14 75695660 75696102 - 79794349 79794791 - 79794349 79794791 - 19123937 100271376 ABBA01062041;AC008771;AMYH01015445;NG_010060 RPS27A_3_585 pseudo 35630 INFERRED 2305687 RPS27P10 ribosomal protein S27 pseudogene 10 2 2 2 q34 205931586 205931929 - 211871863 211872159 - 212163603 212163946 - 19123937 646233 ABBA01062750;AC013404;AMYH01011466;NG_009589 RPS27_2_322 pseudo 35961 VALIDATED 1349846 RPS27P1 ribosomal protein S27 pseudogene 1 10 10 q23.32 87048220 87048450 + 93304615 93304845 + 19123937 414228 ABBA01021926;AL161798;AMYH01002944;NG_010089 FLJ37306;RPS27_10_1079;bA108M11.3 pseudo 23740 INFERRED 2305075 RPS27P11 ribosomal protein S27 pseudogene 11 3 3 p21.3-p21.2 27602064 27602407 - 27665636 27665979 - 19123937 100271115 ABBA01024987;AC098614;AMYH01013045;NG_010022 RPS27_3_353 pseudo 36014 INFERRED 2305073 RPS27P12 ribosomal protein S27 pseudogene 12 3 3 q21 127367979 127368315 - 128936879 128937215 - 19123937 100271117 ABBA01020932;AC135587;AMYH01013474;NG_010035 RPS27_4_403 pseudo 35843 INFERRED 2304479 RPS27P13 ribosomal protein S27 pseudogene 13 4 4 4 p15.2 23046733 23047079 + 22204881 22205240 + 22595784 22596130 + 19123937;22118674 100130070 ABBA01032666;AC098583;AMYH01014056;NG_010105 RPS27_6_465 pseudo 36203 INFERRED 2305072 RPS27P15 ribosomal protein S27 pseudogene 15 6 6 q14-q15 74722905 74723247 + 74328035 74328377 + 19123937 100271118 AL121972;AMYH01016429;NG_010046 RPS27_8_714 pseudo 35863 INFERRED 2305071 RPS27P16 ribosomal protein S27 pseudogene 16 7 7 7 p15.1 30196798 30196974 + 30207444 30207620 + 30207444 30207620 + 19123937 100271119 AACC02000087;ABBA01056812;AC007036;AMYH01017147;NG_010053 RPS27_9_801 pseudo 36560 INFERRED 2305121 RPS27P17 ribosomal protein S27 pseudogene 17 7 7 7 q21.3 88003437 88003779 - 93136921 93137368 - 93299081 93299423 - 19123937 392748 AACC02000014;ABBA01045789;AC002075;AMYH01017692;CH236949;NG_005350 EAL24141 RPS27_5_819 pseudo 36291 INFERRED 2305455 RPS27P14 ribosomal protein S27 pseudogene 14 5 5 5 q13.2 65767997 65768332 + 68801466 68801719 + 68765679 68766014 + 19123937 100129279 ABBA01048268;AC144587;AC145146;AMYH01015146;NG_011327 RPS27_7_572 pseudo 35923 INFERRED 2304772 RPS27P18 ribosomal protein S27 pseudogene 18 10 10 10 q26.13 120935691 120935947 - 127162248 127162504 - 127162248 127162504 - 19123937 100271380 ABBA01034166;AL929444;AMYH01003161;NG_010087 RPS27_6_1109 pseudo 36296 INFERRED 2304620 RPS27P19 ribosomal protein S27 pseudogene 19 11 11 11 q23.3 114064228 114064573 - 116411642 116412599 - 116906456 116906801 - 6480464 19123937;22118674 100129905 ABBA01039744;AMYH01004057;AP000936;NG_010583 1660984;1722533;1789238;1814332;1815224;1831152;1836746;1839848;2002652;2002654;2002656;2002658;2002660;2002662;2002664;2002666;2002668;2002670;2002672;2097280;2097282;2166277 ECD08195;ECD08647;ECD16712;ECD19537;ECD21107;G60193;G65618;REN72238;REN72239;REN72240;REN72241;REN72242;REN72243;REN72244;REN72245;REN72246;REN72247;REN72248;SHGC-31431;WI-22750;stSG601972;stSG601973 RPS27_7_1180 pseudo 36094 INFERRED 2304532 RPS27P20 ribosomal protein S27 pseudogene 20 11 11 11 q24.3 126576456 126576792 + 129407732 129408068 + 129407732 129408068 + 19123937 100271581 ABBA01023020;AMYH01004124;AP003500;NG_011143 RPS27_11_1188 pseudo 36333 INFERRED 2303443 RPS27P2 ribosomal protein S27 pseudogene 2 15 15 q11.2 3317929 3318472 - 25155861 25156404 - 19123937 654390 ABBA01048688;AC090602;AMYH01006483;NG_002690 HsT16324;RPS27_11_1420 pseudo 31035 VALIDATED 1353637 RPS25 ribosomal protein S25 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 11 11 q23.3 118391632 118394267 - 118886422 118889057 - 724692;6480464 1748303 21145461;22777350;9582194;8722009;8406452;7821789;3378620;1544436;10050887;15231747;15189156;12588972;8706699;15883184;8020948;16169070;15489334;12477932;11875025;11101529;18029348;23184937;21832049;22863883;22939629;16196087;21151833;18457437;21139048;21890473;21906983;22178446;19738201;19805454;21963094;22623428;23000965;23246001;23398456;23455922;23463506;22145905;17361185;19380743;21853274;22174317;22505724 6230 E9PK60;E9PPT4;E9PQK3;P62851 AB061844;ABBA01039681;AK311883;AMYH01004080;AP003392;BC004294;BC004986;CH471065;D15048;D28369;M64716;NM_001028 AAA16105;AAH04294;AAH04986;ABM83968;ABM87284;BAA05735;BAB79482;BAG34824;EAW67425;EAW67426;NP_001019;P62851 Hs.512676 1655794;1697318;1731239;2171661;5107738;7184772 D11S4395;D11S456;RH102156;RH70303;SHGC-33190 S25 40S ribosomal protein S25;OTTHUMP00000232696;OTTHUMP00000232699;OTTHUMP00000232700 APPROVED protein-coding 10413 01593 180465 REVIEWED 2305097 RPS27P21 ribosomal protein S27 pseudogene 21 12 12 12 q12 41874547 41874888 - 41358865 41359223 - 43072619 43072960 - 19123937;22118674 100131905 ABBA01031412;AC089982;AMYH01004410;NG_010348 RPS27_9_1229 pseudo 35826 INFERRED 2305532 RPS27P22 ribosomal protein S27 pseudogene 22 12 12 12 p12.1 28022954 28023194 + 22766430 22766670 + 22875163 22875403 + 19123937 100131418 ABBA01067987;AC087241;AMYH01004325;NG_010471 RPS27_12_1218 pseudo 36090 INFERRED 2305781 RPS27P23 ribosomal protein S27 pseudogene 23 12 12 12 q23.2 101483484 101483826 + 100342350 100342668 + 101818187 101818529 + 19123937;22118674 100130775 ABBA01053244;AC063948;AMYH01004702;NG_011114 RPS27_13_1271 pseudo 35716 INFERRED 2305598 RPS27P24 ribosomal protein S27 pseudogene 24 12 12 q14.2 63819099 63819439 - 64154083 64154423 - 19123937 100133668 ABBA01026621;AC084357;AMYH01004541;NG_010194 1790391 D12S2513 RPS27_10_1247 pseudo 37005 INFERRED 2304530 RPS27P25 ribosomal protein S27 pseudogene 25 12 12 12 q 120442253 120442592 + 120809159 120809498 + 120809159 120809498 + 19123937 100271584 ABBA01020111;AC003982;AMYH01004799;NG_011158 RPS27_14_1288 pseudo 36020 INFERRED 2304531 RPS27P26 ribosomal protein S27 pseudogene 26 16 16 16 q22 55049482 55049720 + 70478577 70478815 - 70478577 70478815 - 19123937 100271583 ABBA01010661;AC012184;AMYH01007784;NG_011154 RPS27_12_1494 pseudo 36904 INFERRED 1344988 RPS26 ribosomal protein S26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 12 12 q13 54721953 54724274 + 56435686 56438007 + 6480464;7240710 15716004;17220478;17353931;15189156;12588972;8706699;15883184;17081983;16189514;15489334;12477932;12068637;11752456;9602156;9582194;8722009;8670309;8464749;7945460;19060904;20116044;20953189;21182205;21832049;22863883;22939629;21414820;19167051;19738201;21890473;21963094;23000965;23246001;23455922;23728348;18274552;18781797;19850743;21139048;21906983;22178446;22045982;22586326;20301769;23398456;22951725;21853274;22505724 6231 P62854;Q76N57 AB007160;AB007161;ABBA01008400;AC034102;AMYH01004497;AV681946;BC002604;BC013215;BC015832;BC070220;BC105276;BC105798;CH471054;NG_023201;NM_001029;U41448;X69654;X77770;X79236 AAC26987;AAH02604;AAH15832;AAH70220;AAI05277;AAI05799;ABM82821;ABM83717;ABM86007;ABM87037;ABM87088;BAA25823;BAA25824;CAA49345;CAA54808;CAA55818;EAW96876;EAW96877;EAW96878;NP_001020;P62854 Hs.447562;Hs.567235;Hs.711461 1661356;1683549;1705828;5109787 D17S1486E;G29314;RH65270;SHGC-81169 DBA10;MGC104292;S26 40S ribosomal protein S26;OTTHUMP00000243037;OTTHUMP00000243038 APPROVED protein-coding ENSG00000197728 10414 04743 603701;613309 REVIEWED 2304529 RPS27P27 ribosomal protein S27 pseudogene 27 16 16 16 q21 43623325 43623579 + 59122741 59122995 + 59122741 59122995 + 19123937 100271585 ABBA01025319;AC106793;AMYH01007719;NG_011161 1750747 SHGC-32722 RPS27_15_1487 pseudo 36043 INFERRED 2304528 RPS27P28 ribosomal protein S27 pseudogene 28 18 18 18 q12.1 27167258 27167505 + 30359002 30359249 + 30359002 30359249 + 19123937 100271586 ABBA01022478;AC012123;AMYH01008930;NG_011166 RPS27_16_1593 pseudo 36748 INFERRED 2304730 RPS27P29 ribosomal protein S27 pseudogene 29 19 19 19 p12 23616697 23617039 + 23571969 23572301 + 23780109 23780451 + 19123937;22118674 100132291 ABBA01051435;AC073544;AMYH01009656;NG_011011 RPS27_17_1641 pseudo 36516 INFERRED 1605793 RPS27P4 ribosomal protein S27 pseudogene 4 3 3 3 p22.1 40741438 40741782 + 40777894 40778476 + 40803003 40803347 + 19123937 389112 ABBA01024789;AC099560;AMYH01013103;NG_005671 RPS27_5_366 pseudo 16694 INFERRED 2305074 RPS27P5 ribosomal protein S27 pseudogene 5 1 1 q42.13 200160121 200160365 + 226969202 226969446 + 19123937 100271116 ABBA01009631;AL365444;AMYH01001779;NG_010030 RPS27_4_170 pseudo 36734 INFERRED 1605744 RPS27P3 ribosomal protein S27 pseudogene 3 12 12 12 p13.32 4934551 4934896 - 3191090 3191344 - 3320772 3321117 - 19123937;15869325 654365 ABBA01048784;AC005912;AMYH01004186;DQ052670;NG_005391 RPS27_8_1194 pseudo 17445 INFERRED 2304476 RPS27P6 ribosomal protein S27 pseudogene 6 1 1 1 p13.3 107842798 107843142 + 109374182 109374542 + 109572654 109572998 + 19123937;22118674 100132488 ABBA01068362;AMYH01000928;BX679664;NG_009590 RPS27_2_83 pseudo 36163 VALIDATED 2305330 RPS27P7 ribosomal protein S27 pseudogene 7 1 1 1 q25.1 146820254 146820598 + 171977420 171977754 + 173710782 173711126 + 19123937;22118674 100131787 ABBA01027900;AMYH01001504;BX248409;NG_011053 RPS27_3_126 pseudo 35622 INFERRED 2305540 RPS27P8 ribosomal protein S27 pseudogene 8 1 1 1 q32.1 175568074 175568418 - 200707548 200707907 - 202440934 202441278 - 19123937 653805 ABBA01027500;AC099336;AMYH01001650;NG_009601 RPS27_1_148 pseudo 36022 VALIDATED 1606050 RPS28P1 ribosomal protein S28 pseudogene 1 14 14 14 q23.2 44332490 44333371 + 63344906 63345787 + 64275153 64276034 + 22424883 652980 ABBA01018338;AL161670;AL162832;AMYH01005794;NG_005981 pseudo 23561 INFERRED 2305491 RPS27P9 ribosomal protein S27 pseudogene 9 1 1 1 p34.3 36299803 36300142 + 37794401 37794747 + 38021816 38022154 + 19123937;22118674 100131572 ABBA01023274;AL034379;AMYH01000501;CH471059;NG_009591;NG_032170 EAX07337 RPS27_1_33 pseudo 36964 INFERRED 2304984 RPS28P3 ribosomal protein S28 pseudogene 3 1 1 1 q42.13 201512728 201514739 - 226389006 226391217 - 228322483 228324494 - 19123937 644862 ABBA01005830;AL359510;AMYH01001791;NG_005978 RPS28_2_172 pseudo 36589 INFERRED 2305070 RPS28P2 ribosomal protein S28 pseudogene 2 1 1 q41 186254507 186254704 - 213028511 213028708 - 19123937 100271120 ABBA01048162;AC104333;AMYH01001713;NG_010059;NG_028131 1658438 SHGC-38147 RPS28_1_163 pseudo 36211 INFERRED 2305839 RPS28P4 ribosomal protein S28 pseudogene 4 2 2 2 q37.1 225896242 225896633 + 231828923 231829532 + 232120779 232121170 + 19123937;9847074 645899 ABBA01002062;AC018738;AMYH01011555;NG_005979 RPS28_1_332 pseudo 36208 INFERRED 2305069 RPS28P5 ribosomal protein S28 pseudogene 5 2 2 p13.1 74812880 74813029 - 74981797 74981946 - 19123937 100271121 ABBA01075611;AC007387;AMYH01010454;NG_010066 RPS28_3_243 pseudo 36802 INFERRED 2305464 RPS28P6 ribosomal protein S28 pseudogene 6 7 7 7 q11.22 64781775 64782158 + 71045180 71045389 + 71407218 71407601 + 19123937 728453 AACC02000048;ABBA01064012;AC005011;AMYH01017527;CH236952;NG_010692 RPS28_2_814 pseudo 36085 INFERRED 2305722 RPS28P7 ribosomal protein S28 pseudogene 7 11 11 11 q14.1 79710423 79710797 + 82078132 82078694 + 82400572 82400946 + 19123937 646195 ABBA01017369;AMYH01003839;AP002796;NG_005980 1656115;2131038 D11S4572;D19S1020 RPS28_3_1160 pseudo 35787 INFERRED 2305799 RPS28P9 ribosomal protein S28 pseudogene 9 17 17 p11.1 20605491 20605887 - 18476035 18476431 + 19123937 650788 ABBA01001017;AC107983;AMYH01008175;NG_010195 RPS28_5_1524 pseudo 36193 INFERRED 2304771 RPS28P8 ribosomal protein S28 pseudogene 8 13 13 13 q14.11 23635244 23635448 + 42577568 42577772 + 42577568 42577772 + 19123937 100271381 ABBA01021261;AL442203;AMYH01005068;NG_010096 RPS28_4_1309 pseudo 36938 INFERRED 1348455 RPS29P1 ribosomal protein S29 pseudogene 1 14 14 14 q24.1 49550660 49551063 - 68559512 68559915 - 69489778 69490062 - 19123937 122449 ABBA01023682;AL117694;AL391262;AMYH01005823;NG_002523 RPS29_5_1384 pseudo 19783 INFERRED 2304621 RPS29P11 ribosomal protein S29 pseudogene 11 4 4 4 p15.2 26128514 26128803 + 25289570 25289740 + 25680442 25680731 + 6480464 19123937 100129902 ABBA01032703;AC092436;AMYH01014068;NG_010569;NG_021185 RPS29_8_466 pseudo 36413 INFERRED 2304968 RPS29P10 ribosomal protein S29 pseudogene 10 2 2 2 p15 61661837 61662007 - 61670132 61670302 - 61816628 61816798 - 19123937 100132037 ABBA01075365;AC016727;AMYH01010386;NG_011022 RPS29_1_224 pseudo 37006 INFERRED 2305640 RPS29P12 ribosomal protein S29 pseudogene 12 5 5 5 q35.3 175996453 175996720 + 180305362 180305513 + 180372726 180372993 + 19123937 100131173 ABBA01010087;AC091874;AMYH01015972;NG_010523 RPS29_9_646 pseudo 36458 INFERRED 2305068 RPS29P13 ribosomal protein S29 pseudogene 13 6 6 q22.1 118112998 118113169 - 117369833 117370004 - 19123937 100271122 ABBA01026045;AL355358;AMYH01016617;NG_010075 RPS29_2_744 pseudo 35818 INFERRED 2305098 RPS29P14 ribosomal protein S29 pseudogene 14 7 7 7 p14.3 33057651 33057821 - 33042349 33042519 - 33075824 33075994 - 19123937 100129599 AACC02000103;ABBA01056859;AC074338;AMYH01017164;NG_010334;NG_015800 2157501 RH65871 RPS29_3_802 pseudo 36471 INFERRED 2304924 RPS29P15 ribosomal protein S29 pseudogene 15 7 7 7 q22 95256544 95256799 + 100525960 100526215 + 100525960 100526215 + 19123937 100271241 AC118759;AMYH01017747;NG_010712 RPS29_10_826 pseudo 35876 INFERRED 2305336 RPS29P17 ribosomal protein S29 pseudogene 17 9 9 9 p13.3 35526314 35526602 + 35582758 35582963 + 35592753 35593041 + 6480464 19123937 100129379 ABBA01064990;AL133476;AMYH01019346;NG_010514 RPS29_13_976 pseudo 35479 INFERRED 2304474 RPS29P16 ribosomal protein S29 pseudogene 16 7 7 7 q22.1 97796230 97796517 + 102776264 102776454 + 102989019 102989306 + 6480464 19123937 100132499 ABBA01057988;AC004668;AMYH01017812;NG_009436 1337591 D7S2509 RPS29_11_830 pseudo 35560 INFERRED 2305914 RPS29P18 ribosomal protein S29 pseudogene 18 9 9 9 q21.33 60711468 60711760 + 89330012 89330295 + 90140187 90140479 + 19123937 643284 ABBA01016326;AL161787;AMYH01021479;NG_011384;NG_029883 1763037 SHGC-146783 RPS29_14_993 pseudo 37004 INFERRED 2303688 RPS29P2 ribosomal protein S29 pseudogene 2 8 8 p11.21 40077904 40078159 + 41128923 41129178 + 19123937 619452 ABBA01021127;AC104393;AMYH01018668;NG_009781 HsT23291;RPS29_12_897 pseudo 31083 VALIDATED 2304527 RPS29P20 ribosomal protein S29 pseudogene 20 11 11 11 p15.4 4045273 4045443 + 4040178 4040348 + 4040178 4040348 + 19123937 100271587 ABBA01032043;AC087441;AMYH01003348;NG_011171 RPS29_15_1116 pseudo 36491 INFERRED 2305104 RPS29P21 ribosomal protein S29 pseudogene 21 17 17 17 q23.1 54453037 54453324 + 55344340 55344509 + 57989528 57989815 + 19123937 100129542 ABBA01003181;AC004686;AMYH01008526;NG_009996;NG_029513 RPS29_16_1562 pseudo 36479 INFERRED 2304769 RPS29P22 ribosomal protein S29 pseudogene 22 17 17 17 q11.2 23305070 23305237 - 26443265 26443432 - 26443265 26443432 - 19123937 100271384 ABBA01015063;AC100852;AMYH01008275;NG_010116 RPS29_6_1530 pseudo 35799 INFERRED 2304770 RPS29P19 ribosomal protein S29 pseudogene 19 11 11 11 q23 110774756 110774926 - 113621838 113622008 - 113621838 113622008 - 19123937 100271383 ABBA01039782;AMYH01004039;AP003170;NG_010109 RPS29_4_1178 pseudo 36118 INFERRED 2304526 RPS29P23 ribosomal protein S29 pseudogene 23 19 19 19 p13.2 12378221 12378371 + 12484395 12484545 + 12484395 12484545 + 19123937 100271588 ABBA01029799;AC008758;AMYH01009490;NG_011175 RPS29_17_1627 pseudo 35779 INFERRED 2304524 RPS29P25 ribosomal protein S29 pseudogene 25 19 19 19 q13 36883341 36883511 + 40081621 40081791 + 40081621 40081791 + 19123937 100271590 ABBA01040734;AC011500;AMYH01009794;NG_011183 RPS29_19_1654 pseudo 35649 INFERRED 2304525 RPS29P24 ribosomal protein S29 pseudogene 24 19 19 19 q13 36881315 36881485 + 40079595 40079765 + 40079595 40079765 + 19123937 100271589 ABBA01040734;AC011500;AMYH01009794;NG_011180 RPS29_18_1653 pseudo 35794 INFERRED 2304522 RPS29P27 ribosomal protein S29 pseudogene 27 19 19 19 q13.1 36990113 36990280 + 40188546 40188713 + 40188546 40188713 + 19123937 100271592 ABBA01040734;AC006133;AMYH01009794;NG_011193 RPS29_21_1656 pseudo 35836 INFERRED 2304727 RPS29P28 ribosomal protein S29 pseudogene 28 X X X q21.33 95968422 95968562 + 95450476 95450616 + 95450476 95450616 + 19123937 100271402 ABBA01064637;AL022151;AMYH01022698;NG_010227 1337088 DXS6789 RPS29_22_1795 pseudo 36830 INFERRED 2304523 RPS29P26 ribosomal protein S29 pseudogene 26 19 19 19 q13.1 36890191 36890358 + 40088475 40088642 + 40088475 40088642 + 19123937 100271591 ABBA01040734;AC005205;AMYH01009794;NG_011188 RPS29_20_1655 pseudo 36490 INFERRED 2303317 RPS29P3 ribosomal protein S29 pseudogene 3 3 3 3 q29 194845412 194845702 + 197747775 197748079 + 196263373 196263663 + 6480464 19123937 642892 ABBA01033744;AC092933;AMYH01013795;NG_009392 RPS29_7_451;bcm2758 pseudo 31363 INFERRED 2305067 RPS29P4 ribosomal protein S29 pseudogene 4 1 1 q24-q25 148376919 148377080 + 175266216 175266377 + 19123937 100271123 ABBA01027872;AL008626;AMYH01001515;NG_010081 1759809 SHGC-170367 RPS29_3_129 pseudo 35908 INFERRED 2305066 RPS29P5 ribosomal protein S29 pseudogene 5 1 1 q25.1-q25.2 149001803 149002089 + 175891081 175891367 + 19123937 100271124 ABBA01027866;AL513329;AMYH01001515;NG_010086 RPS29_4_130 pseudo 35584 INFERRED 732460 RPS27 ribosomal protein S27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S27E family of ribosomal proteins. It contains a C4-type zinc finger domain that can bind to zinc. The encoded protein has been shown to be able to bind to nucleic acid. It is located in the cytoplasm as a ribosomal component, but it has also been detected in the nucleus. Studies in rat indicate that ribosomal protein S27 is located near ribosomal protein S18 in the 40S subunit and is covalently linked to translation initiation factor eIF3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 1 1 q21 152229853 152231250 + 153963239 153964631 + 1580863;6480464 21796632;21628590;21145461;21319273;8908372;8407955;15189156;8706699;15883184;17081983;16914586;15635413;15489334;15146197;12477932;12175529;11875025;9582194;8722009;7986747;7821789;16169070;19642098;20936779;21518817;21170087;22863883;22798506;16196087;18781797;21139048;21900206;21906983;21942715;21987572;22118674 6232 P42677;Q5T4L4 AB007162;AB061845;ABBA01049461;AK312070;AL358472;AMYH01001409;AV763942;BC002658;BC070219;CD177656;CH471121;CN304370;D28454;L19739;NM_001030;U57847 AAA59867;AAB02266;AAH02658;AAH70219;BAA05820;BAA25825;BAB79483;BAG35006;EAW53239;EAW53240;NP_001021;P42677 Hs.546291;Hs.654475 2131998;5014715;5127137 D17S2002;D1S3384;RP_S27_2 MPS-1;MPS1;S27 40S ribosomal protein S27;OTTHUMP00000034760;metallopan-stimulin 1;metallopanstimulin 1;ribosomal protein S27 (metallopanstimulin 1);ribosomal protein s27 APPROVED protein-coding ENSG00000177954 10416 04744 603702 REVIEWED 2305785 RPS29P7 ribosomal protein S29 pseudogene 7 1 1 1 p31.3 63910840 63911128 + 65392751 65392921 + 65620133 65620421 + 19123937 100128377 ABBA01074549;AC099680;AMYH01000685;NG_010628 RPS29_2_60 pseudo 36594 INFERRED 2304610 RPS29P8 ribosomal protein S29 pseudogene 8 2 2 2 q23.1 143066849 143067136 + 149069197 149069367 + 149352697 149352984 + 19123937 100132376 ABBA01028004;AC017080;AMYH01011156;NG_010119 RPS29_5_283 pseudo 36915 INFERRED 2305800 RPS29P9 ribosomal protein S29 pseudogene 9 2 2 2 q33.3 202281097 202281395 + 208227750 208227920 + 208519475 208519773 + 6480464 19123937 648343 ABBA01062685;AC079767;AMYH01011449;NG_009588 RPS29_6_317 pseudo 36913 VALIDATED 2305520 RPS2P10 ribosomal protein S2 pseudogene 10 1 1 1 q24.1 138656043 138657000 + 163817442 163818339 + 165550795 165551752 + 19123937 401974 ABBA01047282;AL356441;AMYH01001469;NG_010287 2164638 D1S2430 RPS2_4_110 pseudo 36892 INFERRED 1347616 RPS2P1 ribosomal protein S2 pseudogene 1 20 20 20 q11.2 29462963 29463958 + 32173934 32174755 + 32710152 32711148 + 19123937 140755 ABBA01019210;AL031668;AMYH01011861;NG_000998 RPS2_26_1696;dJ64K7.1 pseudo 16580 INFERRED 2305325 RPS29P6 ribosomal protein S29 pseudogene 6 1 1 p34.3 36074433 36074560 + 37796453 37796580 + 19123937 100270903 ABBA01023285;AL033524;AMYH01000501;NG_010290 RPS29_1_32 pseudo 35718 INFERRED 2304375 RPS2P11 ribosomal protein S2 pseudogene 11 1 1 1 p32.3 49077700 49078637 + 50564391 50565308 + 50791784 50792721 + 19123937 343184 ABBA01050784;AL596275;AMYH01000604;NG_010755 RPS2_3_47 pseudo 36350 INFERRED 2305721 RPS2P12 ribosomal protein S2 pseudogene 12 1 1 1 p34.2 38709831 38710748 + 40200806 40201928 + 40428196 40429113 + 19123937 650901 ABBA01023194;AL663070;AMYH01000531;NG_010789 RPS2_2_35 pseudo 36546 INFERRED 2305449 RPS2P13 ribosomal protein S2 pseudogene 13 1 1 p33 36584341 36585176 + 38306517 38307352 + 19123937 100270826 ABBA01023262;AL929472;AMYH01000505;NG_011208 RPS2_1_34 pseudo 36021 INFERRED 2305448 RPS2P14 ribosomal protein S2 pseudogene 14 1 1 p13 112470720 112471442 - 114241506 114242228 - 19123937 100270827 ABBA01068457;AL133517;AMYH01000963;NG_011213 1692236 AL033778 RPS2_2_88 pseudo 36389 INFERRED 2305421 RPS2P15 ribosomal protein S2 pseudogene 15 2 2 p23 26164442 26165262 - 26324186 26325005 - 19123937 100270858 ABBA01045173;AC011742;AMYH01010188;NG_010017 RPS2_3_202 pseudo 36468 INFERRED 2305888 RPS2P17 ribosomal protein S2 pseudogene 17 2 2 2 p11.2 84971779 84972729 + 84996386 84997361 + 85142887 85143835 + 19123937 400963 ABBA01075727;AC022210;AMYH01010493;NG_010359 RPS2_6_247 pseudo 35764 INFERRED 2305419 RPS2P16 ribosomal protein S2 pseudogene 16 2 2 q33.1 196379237 196380133 + 202627437 202628333 + 19123937 100270860 ABBA01062545;AC007279;AMYH01011404;NG_010029 1784312 SHGC-79895 RPS2_8_310 pseudo 36865 INFERRED 2305657 RPS2P18 ribosomal protein S2 pseudogene 18 2 2 2 q31.1 167775750 167776694 + 173870604 173871516 + 174162338 174163282 + 19123937 643960 ABBA01020750;AC092573;AMYH01011272;NG_010622 RPS2_7_293 pseudo 36449 INFERRED 2305420 RPS2P19 ribosomal protein S2 pseudogene 19 3 3 q25.33 157526311 157526988 - 159104545 159105222 - 19123937 100270859 ABBA01058805;AC063955;AMYH01013610;NG_010021 RPS2_4_428 pseudo 35786 INFERRED 1344279 RPS2P2 ribosomal protein S2 pseudogene 2 14 14 14 q24.3 54881693 54882641 - 73914052 73915179 - 74844378 74845326 - 9847074;19123937 326325 ABBA01030720;AC005519;AMYH01005854;NG_002575 2150492 G35764 RPS2_17_1389 pseudo 19790 INFERRED 1344574 RPS27L ribosomal protein S27-like This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008] 15 15 15 q22.2 40325147 40329349 - 61232592 61236794 - 63445539 63449741 - 6480464 15489334;12477932;11042152;21170087;17207965;17057733;18056458;22863883;22939629;18457437;21942715;21139048;21906983;21853274 51065 C9J1C5;C9JLI6;H0YMV8;Q71UM5 ABBA01038919;AC087612;AF070668;AK024591;AMYH01006701;AW013916;BC003667;BC031307;BC047648;CH471082;NM_015920 AAD20974;AAH03667;ADQ33191;EAW77639;EAW77640;NP_057004;Q71UM5 Hs.108957 1750747;5022651 D11S2921;SHGC-32722 40S ribosomal protein S27-like;OTTHUMP00000207681;OTTHUMP00000207682;OTTHUMP00000207683;OTTHUMP00000207684 APPROVED protein-coding ENSG00000185088 18476 18003 612055 REVIEWED 2304742 RPS2P20 ribosomal protein S2 pseudogene 20 4 4 4 q31.21 141600309 141601220 - 144489700 144491299 - 144270382 144271293 - 19123937 645018 ABBA01070001;AC097658;AMYH01014582;NG_010814 1847718 SHGC-67599 RPS2_7_524 pseudo 35992 INFERRED 2304748 RPS2P21 ribosomal protein S2 pseudogene 21 4 4 4 p13 43859679 43860635 - 43106771 43107711 - 43412021 43412977 - 19123937 441013 ABBA01014300;AC098590;AMYH01014139;NG_010939 RPS2_5_473 pseudo 35591 INFERRED 2305418 RPS2P22 ribosomal protein S2 pseudogene 22 5 5 p12 41783333 41784062 + 41895041 41895770 + 19123937 100270861 ABBA01024237;AC034222;AMYH01015050;NG_010034 RPS2_9_556 pseudo 35506 INFERRED 2305318 RPS2P23 ribosomal protein S2 pseudogene 23 5 5 q12 61709676 61710600 + 64711160 64712084 + 19123937 100270910 ABBA01048331;AC025186;AMYH01015132;NG_010324 RPS2_10_570 pseudo 35760 INFERRED 2305316 RPS2P24 ribosomal protein S2 pseudogene 24 5 5 q14.1 72735707 72736649 + 76841196 76842138 + 19123937 100270912 ABBA01061981;AC010234;AMYH01015428;NG_010336 RPS2_11_579 pseudo 35887 INFERRED 2305315 RPS2P25 ribosomal protein S2 pseudogene 25 5 5 q14.3 80954559 80955326 + 85058317 85059084 + 19123937 100270913 ABBA01062102;AC026414;AMYH01015464;NG_010344 RPS2_12_592 pseudo 36410 INFERRED 2305476 RPS2P27 ribosomal protein S2 pseudogene 27 4 4 4 q28.3 133208680 133209612 - 136092742 136093346 - 135873291 135874224 - 19123937 440447 ABBA01044883;AC104619;AMYH01014547;NG_011372 RPS2_6_520 pseudo 36876 INFERRED 2304380 RPS2P28 ribosomal protein S2 pseudogene 28 6 6 6 p21.1 44882887 44883691 + 43439154 43440066 + 43331153 43331957 + 19123937 100132673 ABBA01050686;AL583834;AL590383;AMYH01016312;NG_010349 RPS2_13_694 pseudo 35780 INFERRED 2305684 RPS2P29 ribosomal protein S2 pseudogene 29 6 6 6 p21.1 45058145 45059086 - 43614473 43615435 - 43506522 43507463 - 19123937 646294 ABBA01050676;AL355802;AMYH01016314;NG_010793 1681406 RH92187 RPS2_9_695 pseudo 36011 INFERRED 1343719 RPS2P3 ribosomal protein S2 pseudogene 3 14 14 14 q32.2 80495485 80496230 - 99510280 99511349 - 100440627 100441372 - 19123937 326326 ABBA01048543;AL133368;AMYH01006002;NG_002576 RPS2_19_1406 pseudo 19806 INFERRED 2305317 RPS2P30 ribosomal protein S2 pseudogene 30 7 7 7 p15.1 28644293 28645060 - 28654714 28655481 - 28654714 28655481 - 19123937 100270911 AACC02000007;ABBA01056786;AC005105;AMYH01017138;CH236948;NG_010330 RPS2_10_800 pseudo 36987 INFERRED 2305120 RPS2P31 ribosomal protein S2 pseudogene 31 7 7 7 q31.33 118925855 118926789 + 123907813 123908711 + 124120556 124121490 + 19123937;12690205;9847074 392781 AACC02000001;ABBA01057718;AC005521;AMYH01017908;CH236947;NG_006979 EAL24326 RPS2_15_841 pseudo 36965 INFERRED 2305741 RPS2P33 ribosomal protein S2 pseudogene 33 8 8 8 q22.1 94822408 94823344 - 98705607 98706483 - 98636394 98637330 - 19123937 286150 ABBA01037505;AMYH01018912;AP002982;NG_011027 RPS2_11_929 pseudo 35549 INFERRED 2305653 RPS2P26 ribosomal protein S2 pseudogene 26 5 5 5 q22.3 110547547 110548253 - 114627927 114628633 - 114600028 114600734 - 19123937 643992 ABBA01069034;AC008494;AMYH01015556;NG_010802 1686849 RH91257 RPS2_8_601 pseudo 36157 INFERRED 2305626 RPS2P34 ribosomal protein S2 pseudogene 34 9 9 9 q21.32 55315924 55316856 + 83935570 83936562 + 84745649 84746581 + 19123937 442426 ABBA01033990;AL158047;AMYH01021452;NG_010308 RPS2_16_990 pseudo 36370 INFERRED 2305711 RPS2P35 ribosomal protein S2 pseudogene 35 9 9 9 q31.1 73392402 73393357 - 101918802 101919754 - 102879001 102879956 - 19123937 100130980 ABBA01042891;AL137072;AMYH01021570;AMYH01021571;NG_008316;NG_010860 RPS2_12_1000 pseudo 36757 INFERRED 2305231 RPS2P37 ribosomal protein S2 pseudogene 37 11 11 11 q12.3 59115272 59116199 - 61535799 61537245 - 61779193 61780120 - 19123937 390206 ABBA01003211;AMYH01003685;AP003733;NG_010329 RPS2_14_1147 pseudo 36482 INFERRED 2304923 RPS2P36 ribosomal protein S2 pseudogene 36 10 10 10 q24.1 92123004 92123834 - 98380634 98381464 - 98380634 98381464 - 19123937 100271243 ABBA01021828;AL138765;AMYH01002972;NG_010724 RPS2_13_1085 pseudo 36784 INFERRED 2304874 RPS2P38 ribosomal protein S2 pseudogene 38 11 11 11 p14.3 23678803 23679747 + 23479656 23499324 + 23541841 23542785 + 19123937 196188 ABBA01061007;AC068472;AMYH01003442;NG_010483 RPS2_18_1126 pseudo 36584 INFERRED 2304922 RPS2P39 ribosomal protein S2 pseudogene 39 11 11 11 q22.3 105715945 105716612 - 108561016 108561683 - 108561016 108561683 - 19123937 100271244 ABBA01039863;AMYH01004022;AP002453;NG_010729 RPS2_15_1171 pseudo 36131 INFERRED 1352236 RPS2P4 ribosomal protein S2 pseudogene 4 14 14 14 q32.33 85358411 85359373 - 104373248 104374389 - 105302281 105303244 - 19123937 92427 ABBA01008846;AL590326;AMYH01006068;AMYH01006069;NG_002522 RPS2_20_1415 pseudo 19814 INFERRED 2304921 RPS2P41 ribosomal protein S2 pseudogene 41 12 12 12 q24.2 111942948 111943521 - 112317484 112318057 - 112317484 112318057 - 19123937 100271245 ABBA01019914;AC003029;AMYH01004752;NG_010735 RPS2_16_1278 pseudo 36357 INFERRED 2305826 RPS2P40 ribosomal protein S2 pseudogene 40 11 11 11 p15.1 17379591 17380537 + 17206274 17207421 + 17249798 17250745 + 19123937;11181995 91561 ABBA01061067;AC107956;AMYH01003414;CH471064;NG_005977 EAW68442;EAW68443;EAW68444;EAW68445 2158524 D11S1228 RPS2_17_1125 pseudo 35541 INFERRED 2304919 RPS2P42 ribosomal protein S2 pseudogene 42 12 12 12 p13.3-p13.2 20737382 20738328 + 15592438 15593384 + 15592438 15593384 + 19123937 100271247 ABBA01067890;AC092183;AMYH01004304;NG_010746;NG_031857 RPS2_19_1214 pseudo 36481 INFERRED 2305771 RPS2P46 ribosomal protein S2 pseudogene 46 17 17 17 p11 16762043 16763003 - 19289738 19290848 - 19349242 19350188 - 19123937 125208 ABBA01054609;AC004448;AMYH01008233;NG_002360 RPS2_22_1525 pseudo 35839 INFERRED 2304918 RPS2P44 ribosomal protein S2 pseudogene 44 16 16 16 q12.1 33122392 33123297 - 48611398 48612303 - 48611398 48612303 - 19123937 100271248 ABBA01000907;AC026470;AMYH01007649;NG_010753 RPS2_21_1482 pseudo 35811 INFERRED 2305511 RPS2P47 ribosomal protein S2 pseudogene 47 17 17 17 q21.32 41686584 41687428 - 42591000 42598634 - 45236520 45237364 - 19123937 644388 ABBA01041118;AC002558;AMYH01008446;NG_011344 RPS2_25_1553 pseudo 35785 INFERRED 2304629 RPS2P48 ribosomal protein S2 pseudogene 48 17 17 17 q22 48302978 48303937 - 49189290 49190238 - 51834303 51835262 - 19123937 645173 ABBA01041276;AC034268;AMYH01008486;NG_010280 RPS2_26_1559 pseudo 35985 INFERRED 2304920 RPS2P43 ribosomal protein S2 pseudogene 43 14 14 14 q24 56342969 56343579 - 76304871 76305481 - 76304871 76305481 - 19123937 100271246 ABBA01030693;AF107885;AMYH01005860;NG_010741;NG_016974 RPS2_18_1391 pseudo 35652 INFERRED 2304916 RPS2P49 ribosomal protein S2 pseudogene 49 17 17 17 q21 32320036 32320878 - 35497496 35498338 - 35497496 35498338 - 19123937 100271251 ABBA01012437;AC016482;AMYH01008361;NG_010770;NG_023295 RPS2_24_1542 pseudo 36521 INFERRED 2303342 RPS2P5 ribosomal protein S2 pseudogene 5 12 12 12 q24.23 118316815 118317765 + 117168245 117169220 + 118683866 118684816 + 19123937 100130562 ABBA01020056;AC026366;AMYH01004786;CH471054;NG_009505 EAW98136 RPS2_20_1284;bcm384 pseudo 31386 INFERRED 2305835 RPS2P50 ribosomal protein S2 pseudogene 50 17 17 17 q12 31752537 31753474 - 32004360 32005204 - 34930247 34931184 - 19123937 729842 ABBA01012427;AC003042;AMYH01008361;NG_011388 RPS2_23_1541 pseudo 36034 INFERRED 2305903 RPS2P51 ribosomal protein S2 pseudogene 51 19 19 19 p13.11 16425334 16426298 + 16384495 16385415 + 16523472 16524437 + 19123937 729679 ABBA01051145;AC020917;AMYH01009562;NG_010424 RPS2_25_1632 pseudo 36422 INFERRED 2304917 RPS2P52 ribosomal protein S2 pseudogene 52 19 19 19 p13 125398 126167 - 690442 691211 + 690442 691211 + 19123937 100271250 ABBA01002580;AC112708;AMYH01009198;NG_010764 RPS2_23_1615 pseudo 36059 INFERRED 2304486 RPS2P53 ribosomal protein S2 pseudogene 53 19 19 19 p13.2 12289053 12289968 + 12256152 12257000 + 12395129 12396044 + 19123937 729274 ABBA01029801;AC012618;AMYH01009490;NG_010961 RPS2_24_1626 pseudo 36690 INFERRED 2305634 RPS2P55 ribosomal protein S2 pseudogene 55 X X X p11.4 44933985 44934933 - 40679106 40689749 - 40794192 40795140 - 19123937 286444 ABBA01046756;AC092268;AMYH01022226;NG_011221 1713117 RH120346 RPS2_29_1773 pseudo 36140 INFERRED 736388 RPS27A ribosomal protein S27a Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008] 2 2 p16 55313328 55316249 + 55459039 55462989 + 6480464 21145461;21319273;1660345;1657614;1370760;18655026;10217437;11438941;15883184;15189156;12588972;8706699;19061985;16189514;15936278;15761153;15647830;15489334;15231748;15146197;15143060;15039775;14764729;14755250;14702039;12960054;12477932;11875025;11733996;10995389;10772958;9582194;8722009;8125298;2581967;2538756;2537304;11285280;11931757;12609980;12787561;12791267;15029244;15721744;16997282;17207965;22716248;16169070;16344560;17304240;15276183;10882101;11231585;11031247;22863883;21163940;21832049;22939629;16196087;17558393;21561866;22318606;17620599;19850743;21139048;21693764;21890473;21906983;22108332;19471022;22145905;21252943;16009940;20473970;21853274;22174317;22505724 6233 B2RDW1;J3QTR3;Q9UEG1 AB007163;AB061854;AB362574;ABBA01075264;AC012358;AK093614;AK225079;AK225718;AK315695;AMYH01010362;AY952889;BC001392;BC042362;BC053371;BC066293;BF678026;BM907473;BQ276758;BQ421613;CH471053;CK004647;CN344335;CR746519;DA527860;DB505702;M10939;NG_017017;NG_033063;NM_001135592;NM_001177413;NM_002954;S79522;X63237 AAA36788;AAB21188;AAH01392;AAH42362;AAH53371;AAH66293;ADQ33198;BAA25826;BAB79488;BAF81539;BAG38058;CAA44911;EAX00106;EAX00107;EAX00108;EAX00109;EAX00110;NP_001129064;NP_001170884;NP_002945;P62979 Hs.311640;Hs.546292;Hs.743392 2168351;5114803 D2S2663;RP_S27A_1 CEP80;HUBCEP80;S27A;UBA80;UBC;UBCEP1;UBCEP80 40S ribosomal protein S27a;OTTHUMP00000200786;OTTHUMP00000200788;OTTHUMP00000200789;OTTHUMP00000201692;ubiquitin C;ubiquitin and ribosomal protein S27a;ubiquitin carboxyl extension protein 80;ubiquitin-40S ribosomal protein S27a;ubiquitin-CEP80 APPROVED protein-coding ENSG00000143947 10417 01878 191343 REVIEWED 1353342 RPS2P6 ribosomal protein S2 pseudogene 6 18 18 18 q22.2 64944964 64945915 + 66248346 66271154 + 68097446 68098397 + 19123937 342808 ABBA01056294;AC091305;AMYH01009079;NG_005666 RPS2_22_1612 pseudo 25485 INFERRED 2304915 RPS2P54 ribosomal protein S2 pseudogene 54 20 20 20 q13.1 42503146 42504056 - 45789429 45790339 - 45789429 45790339 - 19123937 100271252 ABBA01052690;AL049540;AMYH01011946;NG_010778 RPS2_28_1709 pseudo 35835 INFERRED 1352846 RPS2P7 ribosomal protein S2 pseudogene 7 20 20 20 q13.12 40977591 40978533 - 43702381 43703546 - 44269090 44270032 - 19123937 86781 ABBA01052662;AL031671;AMYH01011937;NG_000946 RPS2L1;RPS2_27_1706;dJ688G8.1 pseudo 15838 INFERRED 2305363 RPS2P8 ribosomal protein S2 pseudogene 8 1 1 1 p32.3 50002764 50003696 - 51471120 51490033 - 51716234 51717166 - 19123937 440589 ABBA01074808;AL162430;AMYH01000613;NG_010039 1339066;1767025;2175188;7187538 D1S232;G16048;SHGC-152673 RPS2_1_48 pseudo 36207 INFERRED 2305215 RPS2P9 ribosomal protein S2 pseudogene 9 1 1 1 q32.1 172040678 172041532 + 197184756 197185610 + 198918133 198918987 + 19123937 100131866 ABBA01027577;AC096631;AMYH01001627;NG_010131 RPS2_5_144 pseudo 36704 INFERRED 1351018 RPS3AP1 ribosomal protein S3A pseudogene 1 21 21 21 q21.1 6973715 6974279 + 20724479 20725043 + 21802608 21803172 + 101241875 AP001254;NG_033124 RPS3AP pseudo ENSG00000233206 10422 INFERRED 2305519 RPS3AP10 ribosomal protein S3a pseudogene 10 1 1 1 q24.1 139096794 139097679 + 164258076 164258864 + 165991426 165992312 + 19123937 401975 ABBA01047269;AL606495;AMYH01001473;NG_010293 RPS3A_2_114 pseudo 36036 INFERRED 734258 RPS29 ribosomal protein S29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 14 14 14 q 29903866 29912921 - 49113789 49122844 - 50044039 50053094 - 6480464 17353931;15883184;8781548;15189156;18029348;12588972;8706699;15489334;12625830;12477932;11875025;11751223;10708601;9582194;8722009;7772601;21628590;22863883;22939629;16196087;21890473;21906983;22589738 6235 P62273 AA410525;AB007165;AB055780;AB061847;ABBA01018109;AC019065;AK026649;AK307833;AL139099;AMYH01005711;BC015974;BC032813;BC035313;BF128896;BQ433530;BU942244;CH471078;CS185573;L31610;NM_001030001;NM_001032;U14973 AAA85661;AAB27426;AAH15974;AAH32813;AAH35313;ABM87684;ABW03911;BAA25827;BAB62874;BAB79485;CAJ42754;EAW65765;EAW65766;NP_001023;NP_001025172;P62273 Hs.156367 1770083 D14S1235 S29 40S ribosomal protein S29;OTTHUMP00000178928;OTTHUMP00000178929 APPROVED protein-coding ENSG00000213741 10419 04698 603633 REVIEWED 2305324 RPS3AP11 ribosomal protein S3a pseudogene 11 1 1 p34.2 41239324 41240122 + 42957386 42958184 + 19123937 100270904 ABBA01023132;AL445669;AMYH01000550;NG_010295 RPS3A_1_40 pseudo 36825 INFERRED 2305323 RPS3AP12 ribosomal protein S3a pseudogene 12 1 1 p13.3-p13.1 117899959 117900775 - 119669118 119669934 - 19123937 100270905 ABBA01068511;AL359823;AMYH01000976;NG_010299 1781500 SHGC-141512 RPS3A_1_92 pseudo 35527 INFERRED 2304623 RPS3AP14 ribosomal protein S3a pseudogene 14 3 3 3 q21.2 123933593 123934440 + 126995988 126997651 + 125513925 125514772 + 19123937 729150 ABBA01016406;AC092902;AMYH01013445;NG_010327 RPS3A_7_401 pseudo 35715 INFERRED 2304388 RPS3AP15 ribosomal protein S3a pseudogene 15 3 3 p12.3 75673757 75674782 - 75591256 75592104 - 19123937 652670 ABBA01030988;AC133041;AMYH01013292;NG_010655 RPS3A_2_382 pseudo 35781 INFERRED 2305651 RPS3AP16 ribosomal protein S3a pseudogene 16 4 4 p16.3 3975420 3976268 - 4078394 4079242 - 19123937;9847074 727951 ABBA01008234;AC116562;AMYH01013899;NG_010748 1766801 SHGC-150129 RPS3A_3_456 pseudo 36052 INFERRED 735338 RPS28 ribosomal protein S28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 8242910 8243806 + 8292384 8293280 + 8386384 8387280 + 6480464 21145461;21319273;17353931;18697920;15189156;12588972;8706699;15883184;16344560;16189514;16169070;15489334;12477932;11875025;9582194;8722009;8415000;22939629;22863883;22318606;21890473;21900206;19738201;21988832;22623428 6234 B2R4R9;P62857 AB007164;AB055779;AB061846;ABBA01010852;AC010323;AK293636;AK301638;AK311925;AMYH01009439;AU126783;BC000354;BC018810;BC021239;BC070217;BC070218;CH471139;CR457055;FB342959;FB711082;L05091;NG_028213;NM_001031;U58682 AAB07066;AAC15855;AAH00354;AAH21239;AAH70217;AAH70218;ABM82283;ABM85464;BAA28594;BAB62873;BAB79484;BAG34866;BAG57092;BAG63119;CAG33336;CAR81480;CAS91496;EAW68933;EAW68934;NP_001022;P62857 Hs.153177;Hs.740394 1669246;1772769;2131038;2165238;5124271 D19S1020;RH78597;RH79980;RP_S28_1;WI-17737 S28 40S ribosomal protein S28 APPROVED protein-coding 10418 04731 603685 REVIEWED 2305061 RPS3AP17 ribosomal protein S3a pseudogene 17 4 4 p15.1 30415445 30416161 - 29964661 29965378 - 19123937 100271130 ABBA01032766;AC106868;AMYH01014089;NG_010127 RPS3A_4_467 pseudo 36083 INFERRED 2305737 RPS3AP18 ribosomal protein S3a pseudogene 18 4 4 4 q31.3 150796153 150797302 - 153677438 153692988 - 153472386 153473535 - 19123937 391706 ABBA01070123;AC023424;AMYH01014621;NG_010134 1707476;1797094;1853911;2134921;2161673 DKFZP434I0714;SHGC-67613;SHGC-67939;SHGC-84533;WI-16316 RPS3A_5_528 pseudo 35893 INFERRED 1353742 RPS3AP2 ribosomal protein S3A pseudogene 2 16 16 16 p13.3 1740265 1740872 + 1527984 1528591 + 1527984 1528591 + 19123937 64725 ABBA01030306;AL031705;AMYH01007035;NG_009483 KIAA0590;RPS3A_21_1466 pseudo 14196 INFERRED 2305108 RPS3AP19 ribosomal protein S3a pseudogene 19 4 4 4 p16.1 10045159 10046006 + 9173871 9174901 + 9564767 9565614 + 19123937;9847074 728700 ABBA01032501;AC116655;AMYH01013987;NG_009562 RPS3A_8_458 pseudo 36467 INFERRED 2305660 RPS3AP20 ribosomal protein S3a pseudogene 20 5 5 5 q14.1 74479704 74480562 - 78615634 78616521 - 78579911 78580769 - 19123937 643932 ABBA01062012;AC020898;AMYH01015437;NG_010482 RPS3A_6_581 pseudo 36141 INFERRED 2306134 RPS3AP21 ribosomal protein S3a pseudogene 21 5 5 5 q22.1 106473812 106474694 - 110555782 110556672 - 110527883 110528765 - 19123937 402287 ABBA01069071;AC010468;AMYH01015545;NG_006521 RPS3A_7_600 pseudo 36841 INFERRED 2305779 RPS3AP22 ribosomal protein S3a pseudogene 22 5 5 5 q14.3 83570679 83571541 + 87713518 87714304 + 87677726 87678588 + 19123937 100130786 ABBA01062132;AC091826;AMYH01015474;NG_011168 RPS3A_9_594 pseudo 36573 INFERRED 2305060 RPS3AP23 ribosomal protein S3a pseudogene 23 6 6 q24.1 142697461 142698244 - 141956857 141957640 - 19123937 100271131 ABBA01025766;AL356794;AMYH01016716;NG_010136 RPS3A_8_764 pseudo 36767 INFERRED 2306149 RPS3AP25 ribosomal protein S3a pseudogene 25 7 7 7 q21.3 89022503 89023361 - 94162229 94163087 - 94324293 94325151 - 19123937;12690205 645968 AACC02000013;ABBA01045782;AC069292;AMYH01017697;CH236949;NG_005352 EAL24135 RPS3A_9_820 pseudo 36801 INFERRED 2304860 RPS3AP26 ribosomal protein S3a pseudogene 26 7 7 7 q22.1 92708947 92709804 - 97841345 97853864 - 98015062 98015919 - 19123937;12853948 644972 AACC02000085;ABBA01045728;AC093799;AMYH01017714;CH236956;NG_006069;NG_013090 RPS3A_11_824 pseudo 36513 INFERRED 2304910 RPS3AP28 ribosomal protein S3a pseudogene 28 7 7 7 q34 132913948 132914778 - 138175288 138176118 - 138175288 138176118 - 19123937 100271257 AACC02000025;ABBA01001167;AC013429;AMYH01017969;CH236950;NG_010807;NG_023286 RPS3A_13_855 pseudo 35738 INFERRED 2304912 RPS3AP27 ribosomal protein S3a pseudogene 27 7 7 7 q31 128168476 128169203 - 133417246 133417973 - 133417246 133417973 - 19123937 100271255 AACC02000027;ABBA01001102;AC007790;AMYH01017951;CH236950;NG_010795 RPS3A_12_850 pseudo 35978 INFERRED 2305460 RPS3AP29 ribosomal protein S3a pseudogene 29 7 7 7 q21.3 92221254 92222102 - 97365234 97366977 - 97527608 97528456 - 19123937 730861 ABBA01045742;AC079781;AMYH01017709;NG_011230 1766801 SHGC-150129 RPS3A_10_823 pseudo 35531 INFERRED 1344214 RPS3AP3 ribosomal protein S3A pseudogene 3 20 20 20 q11.2 32357748 32358014 - 35083460 35083901 - 35650146 35650412 - 140713 ABBA01006609;AL391114;AMYH01011892;NG_000984 bA332A4.2 pseudo 16537 INFERRED 2306133 RPS2P32 ribosomal protein S2 pseudogene 32 7 7 7 p15.3 23516236 23517276 + 23487731 23497665 + 23530007 23531047 + 19123937;12477932 256355 AACC02000007;ABBA01056707;AC023105;AMYH01017114;AMYH01017115;BC026177;CH236948;NR_026676 Hs.367935 1677588;1712174 G54138;RH11754 RPS2_14_794 pseudo ENSG00000232818 30518 VALIDATED 2304911 RPS3AP31 ribosomal protein S3a pseudogene 31 8 8 8 p23.1 7015416 7016264 - 7953444 7954292 + 7953444 7954292 + 19123937 100271256 AC105233;NG_010800 RPS3A_12_873 pseudo 36860 INFERRED 2304914 RPS3AP24 ribosomal protein S3a pseudogene 24 6 6 6 q24.1 141823341 141824063 + 141082677 141083399 + 141082677 141083399 + 19123937 100271253 ABBA01025773;AL591400;AMYH01016713;NG_010784 RPS3A_10_762 pseudo 36267 INFERRED 2304913 RPS3AP30 ribosomal protein S3a pseudogene 30 8 8 8 p23 6947532 6948380 + 6980370 6981218 + 6980370 6981218 + 19123937 100271254 ABBA01007048;AF228730;AMYH01018310;NG_010791 RPS3A_11_871 pseudo 35538 INFERRED 2304909 RPS3AP32 ribosomal protein S3a pseudogene 32 8 8 8 q21.11 70965943 70966775 + 74968093 74968925 + 74968093 74968925 + 19123937 100271258 ABBA01041977;AC087672;AMYH01018798;NG_010813 RPS3A_13_917 pseudo 36717 INFERRED 2304908 RPS3AP33 ribosomal protein S3a pseudogene 33 8 8 8 p23 7015416 7016264 - 7048261 7049109 - 7048261 7049109 - 19123937 100271259 ABBA01007048;AF228730;AMYH01018310;NG_010816 RPS3A_14_872 pseudo 35476 INFERRED 2304906 RPS3AP35 ribosomal protein S3a pseudogene 35 8 8 8 p23.1 11451185 11452033 - 12485941 12486789 - 12485941 12486789 - 19123937 100271261 ABBA01021634;AC068587;AMYH01018526;NG_010825 RPS3A_16_877 pseudo 35902 INFERRED 2304907 RPS3AP34 ribosomal protein S3a pseudogene 34 8 8 p23.1 12427815 12428663 - 12427815 12428663 - 19123937 100271260 AC068587;AMYH01018524;NG_010820 RPS3A_15_876 pseudo 36293 INFERRED 2305654 RPS3AP36 ribosomal protein S3a pseudogene 36 10 10 10 q24.1 91095515 91096379 + 97343764 97345396 + 97354318 97355182 + 19123937 643981 ABBA01021834;AL356632;AMYH01002968;NG_010737 RPS3A_16_1083 pseudo 35596 INFERRED 2303450 RPS3AP4 ribosomal protein S3A pseudogene 4 14 14 14 q13.2 15801344 15802497 + 35006624 35008373 + 35937453 35938606 + 100132142 ABBA01061507;AL133163;AL160231;AMYH01005666;NG_009833 pseudo 23562 INFERRED 2304521 RPS3AP37 ribosomal protein S3a pseudogene 37 10 10 10 q21 63709988 63710834 + 70434061 70434907 + 70434061 70434907 + 19123937 100271593 ABBA01019583;AL513534;AMYH01002803;NG_011202 RPS3A_14_1056 pseudo 36691 INFERRED 2304520 RPS3AP38 ribosomal protein S3a pseudogene 38 10 10 10 q21.3 62995312 62996121 - 69720442 69721251 - 69720442 69721251 - 19123937 100271594 ABBA01019554;AL356741;AMYH01002797;NG_011211 RPS3A_17_1053 pseudo 36145 INFERRED 2305343 RPS3AP39 ribosomal protein S3a pseudogene 39 11 11 11 p15.4 3568279 3569127 - 3527313 3528601 - 3570925 3571773 - 19123937 730993 ABBA01032058;AC127526;AMYH01003346;NG_010582 2129950 D11S1193 RPS3A_18_1114 pseudo 35490 INFERRED 2305495 RPS3AP40 ribosomal protein S3a pseudogene 40 11 11 q13.2 67449633 67450485 - 67693078 67693926 - 19123937 100129199 ABBA01024021;AC004924;AMYH01003752;NG_010912 RPS3A_19_1151 pseudo 35869 INFERRED 2304517 RPS3AP42 ribosomal protein S3a pseudogene 42 11 11 11 q14.3 89535802 89536659 - 92231267 92232124 - 92231267 92232124 - 19123937 100271597 ABBA01040056;AMYH01003947;AP000805;NG_011229 RPS3A_20_1165 pseudo 35605 INFERRED 2304519 RPS3AP41 ribosomal protein S3a pseudogene 41 11 11 11 q13.4 68682156 68683001 + 71380542 71381387 + 71380542 71381387 + 19123937 100271595 ABBA01017550;AP003498;NG_011216 RPS3A_17_1152 pseudo 37000 INFERRED 2305650 RPS3AP43 ribosomal protein S3a pseudogene 43 12 12 p13.31 10077842 10078690 - 8511606 8512454 - 19123937 727970 ABBA01012240;AC092865;AMYH01004227;NG_010849 RPS3A_21_1203 pseudo 36684 INFERRED 2305585 RPS3AP44 ribosomal protein S3a pseudogene 44 13 13 13 q12.13 8219979 8220842 + 26049017 26049863 + 27150995 27151858 + 19123937 646527 ABBA01007918;AL353789;AMYH01004984;NG_010660 2189335 MARC_1239-1240:991931119:1 RPS3A_18_1305 pseudo 36761 INFERRED 2304518 RPS3AP46 ribosomal protein S3a pseudogene 46 14 14 14 q22.1 34129218 34129801 + 54079516 54080099 + 54079516 54080099 + 19123937 100271596 ABBA01018185;AL163953;AMYH01005741;NG_011220 1816806;1823724;1824754;1838282;1936644;1936646;1936648;1936650;1936652;1936654;1936656;1936658;1936660;1936662;1936664;2209538 ECD09449;ECD12954;ECD13475;ECD20315;REN39159;REN39160;REN39161;REN39162;REN39163;REN39164;REN39165;REN39166;REN39167;REN39168;REN39169;stSG628932 RPS3A_19_1365 pseudo 36338 INFERRED 2304354 RPS3AP48 ribosomal protein S3a pseudogene 48 16 16 16 p13.3 5529955 5530803 + 5260175 5261021 + 5320151 5320999 + 19123937 100127963 ABBA01026806;AC074051;AMYH01007113;NG_011131 RPS3A_22_1469 pseudo 36792 INFERRED 2304516 RPS3AP47 ribosomal protein S3a pseudogene 47 15 15 15 q15.2 20178673 20179535 - 41195111 41196018 - 43407853 43408715 - 19123937 146053 ABBA01038354;ABBA01038355;AC068724;AMYH01006587;NG_010693 RPS3A_22_1428 pseudo 36744 INFERRED 2304396 RPS3AP49 ribosomal protein S3a pseudogene 49 18 18 18 q21.32 54534733 54535596 + 55967762 55968652 + 57816776 57817639 + 19123937 400652 ABBA01056176;AC090771;AMYH01009040;NG_010032 RPS3A_23_1608 pseudo 36810 INFERRED 2304472 RPS3AP50 ribosomal protein S3a pseudogene 50 19 19 19 q13.1 30525675 30526456 + 33832109 33832890 + 33832109 33832890 + 19123937 100271601 ABBA01012594;AC008738;AMYH01009704;NG_011245 RPS3A_24_1646 pseudo 37018 INFERRED 6481459 RPS3AP52 ribosomal protein S3a pseudogene 52 13 69208316 69208618 + 100873818 ABBA01050297;AL355611;AMYH01005191;NG_032387 pseudo 42004 INFERRED 7174914 RPS3AP53 ribosomal protein S3a pseudogene 53 3 p25.1 15182863 15183711 + 100287512 ABBA01025145;AC090954;AMYH01013001;NG_022239 pseudo 44500 INFERRED 2304473 RPS3AP51 ribosomal protein S3a pseudogene 51 22 22 22 q12.2 14332324 14333092 - 30532619 30533387 - 30532619 30533387 - 19123937 100271600 ABBA01055291;AC003071;AMYH01012705;NG_011242 RPS3A_23_1744 pseudo 35480 INFERRED 1345978 RPS3AP5 ribosomal protein S3A pseudogene 5 10 10 10 q23.1 80315084 80315971 + 86310158 86311061 + 86320175 86321062 + 19123937;23251661 439992 ABBA01003755;AL356115;AMYH01002893;NG_009792 RPS3A_15_1074;bA486O22.3 pseudo 23744 VALIDATED 1606710 RPS3AP6 ribosomal protein S3A pseudogene 6 15 15 15 q21.3 36948504 36949362 + 57847721 57848779 + 60060529 60061387 + 6480464 19123937 145767 ABBA01038956;AC092079;AMYH01006686;NG_004861 RPS3A-like;RPS3A_20_1440 pseudo 18630 INFERRED 2304365 RPS3AP7 ribosomal protein S3a pseudogene 7 1 1 1 q42.12 199817159 199818021 + 224692885 224693701 + 226626233 226627095 + 19123937 391168 ABBA01009639;AL359704;AMYH01001779;NG_009958 RPS3A_5_169 pseudo 36376 INFERRED 1344634 RPS3L1 ribosomal protein S3-like 1, G1-phase expressed 8123253 6190 10423 2305063 RPS3AP8 ribosomal protein S3a pseudogene 8 1 1 q25 156346716 156347487 + 183235635 183236406 + 19123937 100271127 ABBA01027752;AL356981;AMYH01001552;NG_010108 RPS3A_3_138 pseudo 35638 INFERRED 2305062 RPS3AP9 ribosomal protein S3a pseudogene 9 1 1 q31.1 161771706 161772567 + 188663425 188664286 + 19123937 100271129 ABBA01027686;AMYH01001575;BX005030;NG_010121 RPS3A_4_140 pseudo 36150 INFERRED 1346563 RPS3P1 ribosomal protein S3 pseudogene 1 20 20 20 p12 14059532 14059723 + 13932054 13932445 + 13984155 13984346 + 140754 ABBA01053978;AL117333;AMYH01011727;NG_000997 dJ631M13.3 pseudo 16579 INFERRED 2305417 RPS3P4 ribosomal protein S3 pseudogene 4 6 6 p25 8568746 8569582 - 7338994 7339831 - 19123937 100270862 ABBA01022040;AL139095;AMYH01016063;NG_010045 RPS3_1_652 pseudo 36616 INFERRED 1352991 RPS3P2 ribosomal protein S3 pseudogene 2 20 20 20 q11.2 33877182 33877891 + 36599706 36600615 + 37166393 37167102 + 19123937 140761 ABBA01052526;AL049868;AMYH01011906;NG_001004 1710652 SHGC-81042 RPS3_4_1701;dJ927M24.3 pseudo 16603 INFERRED 2304867 RPS3P3 ribosomal protein S3 pseudogene 3 3 3 3 q27.1 182309899 182310745 + 185350145 185351014 + 183867462 183868308 + 19123937;22118674 440991 ABBA01058458;AC131235;AMYH01013710;NG_010838 RPS3_1_443 pseudo 36700 INFERRED 2305094 RPS3P5 ribosomal protein S3 pseudogene 5 6 6 6 q16.2 100667679 100668529 + 100130309 100131053 + 100023558 100024408 + 19123937 100131956 ABBA01014479;AL137784;AMYH01016537;NG_010604 2191683 MARC_4995-4996:996679647:1 RPS3_2_726 pseudo 36869 INFERRED 1605038 RPS2P45 ribosomal protein S2 pseudogene 45 16 16 16 q22.1 53576858 53577789 + 67625034 67625965 + 69067533 69068464 + 19123937;14702039;12477932 80052 Q9HA33 ABBA01025512;AC009027;AMYH01007763;BC104819;BC104821;NG_006666 Hs.661121 2220576 UniSTS:485528 MGC132479;MGC132481;RPS2_21_1492 pseudo 25709 07765 VALIDATED 2304743 RPS3P6 ribosomal protein S3 pseudogene 6 12 12 12 q14.1 62084253 62084940 - 60701534 60706585 - 62415269 62415956 - 19123937 645000 ABBA01026639;AC078872;AMYH01004536;NG_010709 1337053;1746741;1746951;1750693;2126638 D12S1726;D12S2003;G64812;G64813;SHGC-112175 RPS3_2_1244 pseudo 36061 INFERRED 2305807 RPS3P7 ribosomal protein S3 pseudogene 7 16 16 16 q23.1 63158838 63159671 + 77415738 77417404 + 78859149 78859982 + 19123937 645957 ABBA01017016;AC136603;AMYH01007830;NG_011363 RPS3_3_1501 pseudo 36056 INFERRED 2303322 RPS4XP1 ribosomal protein S4X pseudogene 1 12 12 12 q23.1 100068040 100068947 - 98926958 98927747 - 100402765 100403672 - 19123937 400064 ABBA01053264;AC126474;AMYH01004694;NG_009506 RPS4P1;RPS4X_6_1269 APPROVED pseudo 32444 INFERRED 2305058 RPS4XP10 ribosomal protein S4X pseudogene 10 8 8 q22.1 91551149 91551943 + 95365149 95365943 + 19123937 100271133 ABBA01037452;AMYH01018887;AP003534;NG_010150 RPS4P10;RPS4X_6_927 APPROVED pseudo 35741 INFERRED 2304361 RPS4XP11 ribosomal protein S4X pseudogene 11 10 10 10 p11.22 32156625 32157513 - 32431387 32438655 - 32391381 32392269 - 19123937 441550 ABBA01033392;AL161932;AMYH01002223;NG_011069 RPS4P11;RPS4X_2_1029 APPROVED pseudo 37013 INFERRED 2304768 RPS4XP12 ribosomal protein S4X pseudogene 12 11 11 11 q23.3 118280143 118280852 - 121120973 121121682 - 121120973 121121682 - 19123937 100271385 ABBA01031310;AMYH01004092;AP001124;NG_010122 RPS4P12;RPS4X_4_1183 APPROVED pseudo 35951 INFERRED 2304738 RPS4XP14 ribosomal protein S4X pseudogene 14 12 12 12 p13.33 3474200 3475066 - 1736658 1737438 - 1866332 1867198 - 19123937 729097 ABBA01048817;AC005343;AMYH01004176;NG_010015 1709784 SHGC-84708 RPS4P14;RPS4X_5_1190 APPROVED pseudo 36737 INFERRED 2305671 RPS4XP15 ribosomal protein S4X pseudogene 15 12 12 12 q21.32 88006668 88012603 + 86862794 86868726 + 88338663 88344595 + 19123937 100131055 ABBA01053428;AC090060;AMYH01004646;NG_011238 RPS4P15;RPS4X_7_1265 APPROVED pseudo 36308 INFERRED 2305376 RPS4XP13 ribosomal protein S4X pseudogene 13 11 11 11 q12.1 54700220 54701096 - 57100309 57101129 - 57343702 57344578 - 6480464 19123937;19423540;20406964;20438785 390183 ABBA01021474;AMYH01003652;AP002893;NG_010213 RPS4P13;RPS4X_3_1145 APPROVED pseudo 36522 INFERRED 2305870 RPS4XP17 ribosomal protein S4X pseudogene 17 17 17 17 p13.3 571739 572603 - 506729 507555 - 559972 560836 - 19123937 100128140 ABBA01054617;AC027455;AMYH01007976;NG_010733 RPS4P17;RPS4X_7_1505 APPROVED pseudo 36789 INFERRED 2305581 RPS4XP18 ribosomal protein S4X pseudogene 18 18 18 18 q11.2 16980501 16981375 + 18420354 18421188 + 20166367 20167241 + 19123937 646583 ABBA01022657;AC099849;AMYH01008881;NG_010953 RPS4P18;RPS4X_10_1587 APPROVED pseudo 36170 INFERRED 1346043 RPS4XP2 ribosomal protein S4X pseudogene 2 20 20 20 p13 4680071 4680682 - 4558354 4559065 - 4610354 4610965 - 19123937 92507 ABBA01053856;AL121916;AL133396;AMYH01011685;NG_000950 RPS4L2;RPS4P2;RPS4Y_2_1680;dJ189G13.2 APPROVED pseudo 16563 INFERRED 2304359 RPS4XP19 ribosomal protein S4X pseudogene 19 18 18 18 p11.22 8904125 8904953 + 9010027 9010765 + 9019996 9020824 + 19123937;23251661 645573 ABBA01049943;AMYH01008801;AP005899;NG_011021 RPS4P19;RPS4X_9_1583 APPROVED pseudo 36872 INFERRED 2304767 RPS4XP20 ribosomal protein S4X pseudogene 20 19 19 19 q13.11 31207100 31207985 - 34513470 34514355 - 34513470 34514355 - 19123937 100271386 ABBA01004319;AC016587;AMYH01009710;NG_010128 RPS4P20;RPS4X_9_1648 APPROVED pseudo ENSG00000249987 36437 INFERRED 2305453 RPS4XP22 ribosomal protein S4X pseudogene 22 19 19 19 p13.2 9689360 9690217 - 9654970 9655749 - 9793915 9794772 - 19123937 100131614 ABBA01029969;AC008759;AMYH01009461;NG_010161 RPS4P22;RPS4X_8_1621 APPROVED pseudo 36125 INFERRED 2305234 RPS4XP21 ribosomal protein S4X pseudogene 21 19 19 19 q13.11 31277021 31277911 - 39275219 39276088 - 34583381 34584271 - 19123937 126235 C9JQ55 ABBA01004322;AC016587;AMYH01009711;NG_009255 RPS4P21;RPS4X_10_1649 APPROVED pseudo ENSG00000186008 36228 INFERRED 1342924 RPS4XP3 ribosomal protein S4X pseudogene 3 20 20 20 q13.31 51917183 51917576 + 54610029 54610622 + 55176722 55177115 + 128580 ABBA01052903;AL137162;AMYH01012006;NG_000967 RPS4L;RPS4P3;dJ843L14.2 APPROVED pseudo 16251 INFERRED 2305848 RPS4XP4 ribosomal protein S4X pseudogene 4 1 1 1 p36.12 19176773 19177631 + 20725069 20725836 + 20852445 20853303 + 19123937 441878 ABBA01059781;AL391357;AMYH01000322;NG_010104 RPS4P4;RPS4X_1_17 APPROVED pseudo 36545 INFERRED 2305059 RPS4XP5 ribosomal protein S4X pseudogene 5 2 2 p15 63715340 63716210 - 63870332 63871202 - 19123937 100271132 ABBA01075404;AC016734;AMYH01010396;NG_010143 RPS4P5;RPS4X_1_232 APPROVED pseudo 36670 INFERRED 2305734 RPS4XP6 ribosomal protein S4X pseudogene 6 5 5 5 p13.2 36972072 36972985 + 37120915 37121786 + 37085107 37086020 + 6480464 19123937 391777 ABBA01024176;AC008925;AMYH01015029;NG_010506 RPS4P6;RPS4X_2_555 APPROVED pseudo 36057 INFERRED 2305730 RPS4XP7 ribosomal protein S4X pseudogene 7 6 6 6 p23 14761062 14761965 + 13629477 13630336 + 13521445 13522348 + 19123937 442162 ABBA01022128;AL583828;AMYH01016093;NG_010267 RPS4P7;RPS4X_3_659 APPROVED pseudo 36885 INFERRED 2305685 RPS4XP8 ribosomal protein S4X pseudogene 8 6 6 6 q25.2 155631694 155632579 + 154939118 154939921 + 154897390 154898275 + 19123937 646269 ABBA01025592;AL591419;AMYH01016757;NG_010649 RPS4P8;RPS4X_5_772 APPROVED pseudo 36683 INFERRED 2305884 RPS4Y1P1 ribosomal protein S4Y pseudogene 1 16 16 16 q23.1 59519553 59520442 - 73783407 73784646 - 75226298 75227187 - 19123937 441774 ABBA01058125;AC009078;AMYH01007818;NG_009472 1690196 RH98732 RPS4Y_1_1499 pseudo 36893 VALIDATED 2304514 RPS4XP16 ribosomal protein S4X pseudogene 16 13 13 13 q14.3 33083798 33084683 + 50931097 50933768 + 52034631 52035516 + 19123937;14702039 220433 ABBA01051048;AL354820;AMYH01005116;NG_010070 RPS4P16;RPS4X_8_1313 APPROVED pseudo 36365 INFERRED 2305692 RPS4XP9 ribosomal protein S4X pseudogene 9 6 6 6 q22.32 127746435 127747331 + 127045874 127046685 + 127004158 127005054 + 19123937 442257 ABBA01025941;AL035603;AMYH01016652;NG_010761 RPS4P9;RPS4X_4_749 APPROVED pseudo 35792 INFERRED 1351508 RPS5P1 ribosomal protein S5 pseudogene 1 6 6 6 q22.1 117322645 117323387 + 116686249 116687071 + 116579608 116580350 + 19123937 26516 ABBA01026047;AL050331;AMYH01016617;NG_000896 1791167;2118355 Rps5;WI-18669 RPS5_1_743 pseudo 10428 INFERRED 1348953 RPS5P2 ribosomal protein S5 pseudogene 2 21 21 21 q22.11 20707243 20707989 - 34429602 34430241 - 35507682 35508428 - 19123937 100130240 ABBA01057365;AMYH01012214;AP000315;NG_009782 RPS5_4_1727 pseudo 17222 VALIDATED 1344037 RPS5P3 ribosomal protein S5 pseudogene 3 21 21 21 q22.11 20053466 20054203 - 33775615 33776502 + 34853846 34854569 - 19123937;10830953 54022 ABBA01057345;AC207981;AMYH01012211;AP000302;AP001717;NG_000903 1698838;1801634;1837022;2028834;2028836;2028838;2028840;2028842;2028844;2028846;2028848;2028850;2028852;2028854;2028856;2028858;2028860;2028862;2028864;2028866;2028868;2028870;2028872;2101284;2101286 ECD01696;ECD19675;REN85421;REN85422;REN85423;REN85424;REN85425;REN85426;REN85427;REN85428;REN85429;REN85430;REN85431;REN85432;REN85433;REN85434;REN85435;REN85436;REN85437;REN85438;REN85439;REN85440;RH102983;stSG607201;stSG607202 RPS5L;RPS5_3_1726 pseudo 10427 INFERRED 2305533 RPS5P4 ribosomal protein S5 pseudogene 4 1 1 1 q32.3 186221650 186223933 + 211062279 211064562 + 212995656 212997939 + 19123937 100129090 ABBA01048165;AC104333;AMYH01001710;NG_010354 RPS5_1_162 pseudo 36122 INFERRED 2304512 RPS5P5 ribosomal protein S5 pseudogene 5 8 8 8 q21.13 77217722 77218461 + 81375659 81376271 + 81213032 81213771 + 19123937 340443 ABBA01004066;AC104212;AMYH01018825;NG_011128 RPS5_2_920 pseudo 35626 INFERRED 2305555 RPS5P6 ribosomal protein S5 pseudogene 6 9 9 9 p24.1 4707010 4707742 - 4771465 4772077 - 4781417 4782149 - 19123937 392282 ABBA01065419;AL353151;AMYH01019201;NG_010474 RPS5_2_957 pseudo 35960 INFERRED 1353093 RPS4Y2 ribosomal protein S4, Y-linked 2 The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012] Y Y Y q11.223 7624905 7649869 + 21327342 21352306 + 22917954 22942918 + 1580863;6480464 20301513;12815422;20459660;21890473;21963094;22505724;23000965;21906983;22708584 140032 Q8TD47 ABBA01057475;ABBA01057476;ABBA01057477;ABBA01057478;AC009494;AF497481;NG_032924;NM_001039567 AAM18074;NP_001034656;Q8TD47 Hs.367761 2113612;5021618;5022873;5115568;5115570;5115572;5115574;5115576 RPS4Y2-1;RPS4Y2-2;RPS4Y2-3;RPS4Y2-4;RPS4Y2-5;RPS4Y2-6;RPS4Y2-7;sY1682 RPS4Y2P 40S ribosomal protein S4, Y;40S ribosomal protein S4, Y isoform 2;OTTHUMP00000034699;ribosomal protein S4, Y-linked 2 pseudogene APPROVED protein-coding ENSG00000157828 18501 15960 400030 REVIEWED 2305373 RPS5P7 ribosomal protein S5 pseudogene 7 X X X q23 109576099 109576819 + 108983199 108983804 + 109096477 109097197 + 19123937 392520 ABBA01043456;AC003013;AMYH01022839;NG_010389 RPS5_3_1801 pseudo 36881 INFERRED 2305483 RPS5P8 ribosomal protein S5 pseudogene 8 X X X p22.31 10565417 10566143 - 6350133 6350742 - 6340088 6340814 - 19123937 392424 ABBA01044639;AC078991;AMYH01022055;NG_011198 RPS5_5_1762 pseudo 36531 INFERRED 1348881 RPS3A ribosomal protein S3A Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 4 4 q31.2-q31.3 152240204 152245254 + 152020725 152025804 + 6480464 17267499;21145461;21319273;1398113;11823430;9566973;15189156;12588972;8706699;15883184;15572026;17081983;16964243;16385451;16169070;15889794;15592455;15489334;15231748;15047060;12690205;12477932;12463423;11790298;11790116;10713066;9582194;9573378;8877097;8722009;8647443;8076819;7821789;19019082;17353931;14499622;17289661;18809582;16055720;16159877;21182205;22863883;22939629;16196087;17620599;22586326;22145905;21139048;21890473;21906983;17461779;15303970;18457437;18781797;19596686;21081666;21726808;21857917;21942715;22178446;15146197;20686565;17361185;21628590;21853274;22174317;22505724;22944692 6189 B7Z3M5;D6R9B6;D6RAS7;D6RAT0;D6RB09;D6RED7;D6RG13;D6RGE0;D6RI02;E9PFI5;F5H4F9;H0Y8L7;H0Y9Y4;P61247 AB007148;ABBA01070104;AC095055;AI038646;AK129825;AK291075;AK296121;AK308947;AK311788;AMYH01014614;BC000204;BC001708;BC004981;BC006298;BC009219;BC009404;BC017123;BC018954;BC019072;BC030161;BC066926;BC070211;BC071916;BQ055367;CA441711;CH471056;CN315189;CX754149;D16953;D16985;D17120;D28374;L13802;M77234;M84711;NM_001006;NM_001267699;X87373 AAA35682;AAA58487;AAA60290;AAH00204;AAH01708;AAH04981;AAH06298;AAH09219;AAH09404;AAH17123;AAH19072;AAH30161;AAH66926;AAH70211;AAH71916;ABM82069;ABM85248;BAA05740;BAA25814;BAF83764;BAG34731;BAH12261;CAA60827;EAX04988;EAX04989;EAX04990;EAX04991;EAX04992;EAX04993;EAX04994;EAX04995;NP_000997;NP_001254628;P61247 Hs.356572 1646726;5022103;5117432 D4S2325;GDB:554881;SHGC-59322 FTE1;MFTL;MGC23240;S3A 40S ribosomal protein S3a;OTTHUMP00000220241;OTTHUMP00000220242;OTTHUMP00000220245;OTTHUMP00000220248;OTTHUMP00000220249;OTTHUMP00000220250;OTTHUMP00000220252;OTTHUMP00000220253;fte-1;v-fos transformation effector protein 1 APPROVED protein-coding ENSG00000145425 10421 01606 180478 VALIDATED 736568 RPS3 ribosomal protein S3 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 11 11 q13.3-q13.5 74788210 74794381 + 75110535 75133346 + 1580863;6480464 7821789;16737853;18045535;11911468;18464793;15518571;16814409;15950189;15883184;1712897;14988002;17049931;17560175;15189156;12588972;8706699;19088750;19059439;17179743;17140567;16807684;16565220;15489334;15302935;12477932;11943484;11875025;9582194;8722009;8319909;8125298;7789996;7775413;2129557;1742346;16169070;18973764;17220478;17620334;18172692;21145461;21319273;20709134;20217897;17289661;17643375;19458393;19460357;19656744;21209461;16314389;21399639;23115242;20164180;19417104;21182205;22863883;22939629;21871177;16196087;19135240;20618440;15161933;16051665;18274552;21081666;21968017;22145905;16341674;20972266;21139048;21693764;21890473;21906983;21963094;8889548;18781797;19596686;20639865;21726808;21942715;21987572;22118674;22178446;17620599;22510408;17361185;18685789;21628590;17203973;20462248;23084401;23169665;23184937;23188828;23190606;19738201;21080425;21988832;22053931;22113938;22623428;22810585;23000965;23131551;23151878;23246001;23438482;19380743;21048991;21853274;22337587;22505724;6188845 6188 E9PJH4;E9PJN9;E9PK82;E9PL09;E9PL45;E9PPU1;E9PQ96;E9PQX2;E9PSF4;F2Z2S8;H0YCJ7;H0YES8;H0YEU2;H0YF32;P23396 AA976344;AB061838;AB062288;ABBA01017466;AF281313;AK129794;AK130960;AK223048;AK313051;AMYH01003816;AMYH01003817;AP000744;AW134501;AY791291;BC003137;BC003577;BC013196;BC013231;BC029981;BC034149;BC071669;BC071917;BC100284;BC150501;BE797417;BM831460;BM928330;BQ645330;CB241053;CH471076;D28344;DW448503;L16016;NM_001005;NM_001256802;NM_001260506;NM_001260507;S42658;U14990;U14991;U14992;X55715 AAA18095;AAB19349;AAB60336;AAB60337;AAB60338;AAF82383;AAH03137;AAH03577;AAH13196;AAH34149;AAH71917;AAI00285;AAI50502;AAV40835;ABM83814;ABM87135;BAA05710;BAB79476;BAB93471;BAD96768;BAG35882;CAA39248;EAW74963;NP_000996;NP_001243731;NP_001247435;NP_001247436;P23396 Hs.546286;Hs.740358 1689728;2122162;2169707;2182595;2191683;5016909 A005D09;D11S1962;MARC_4995-4996:996679647:1;RH35764;RH68863;RH94000 FLJ26283;FLJ27450;MGC87870;S3 40S ribosomal protein S3;IMR-90 ribosomal protein S3;OTTHUMP00000229804;OTTHUMP00000229805;OTTHUMP00000229874;OTTHUMP00000229877;OTTHUMP00000229878;OTTHUMP00000229879;OTTHUMP00000229880;OTTHUMP00000229882;OTTHUMP00000229883;OTTHUMP00000229886 APPROVED protein-coding ENSG00000149273 10420 10941 600454 REVIEWED 5686917 RPS6KA2-AS1 RPS6KA2 antisense RNA 1 q27 19287968 100861523 AA707471;AL159163;AW290888 Hs.634640;Hs.734159 APPROVED miscrna 40511 6481069 RPS6KA2-IT1 RPS6KA2 intronic transcript 1 (non-protein coding) 6 166874151 166878871 - 10737800 100874353 ABBA01033442;AL022069;AMYH01016849;AW992696;NR_046793 Hs.675698 miscrna 41378 PREDICTED 1344298 RPS4Y1 ribosomal protein S4, Y-linked 1 Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] Y Y p11.3 2769623 2794997 + 2709623 2734997 + 1580863;6480464 8358435;15189156;12588972;8139551;15489334;14660691;14583743;12815422;12477932;12206807;11401437;9582194;8808278;8722009;8706699;8125298;7633446;2124517;15840729;21139048;21890473;21906983;22708584;23225889;22505724 6192 C9JEH7;P22090 ABBA01069753;ABBA01069754;ABBA01069755;ABBA01069756;AC006040;AF041427;AI167386;AK222594;AK292819;BC010286;BC100905;BC100906;BF242790;L24370;M58459;NM_001008 AAA63256;AAB96967;AAH10286;AAI00906;AAI00907;AAN87120;ABM82523;ABM85717;BAD96314;BAF85508;NP_000999;P22090 Hs.282376 1664024;1690196;1856260;2117635;2188089;2188109;5022871;5115556;5115558;5115560;5115562;5115564;5115566 DYS250;DYS386;G66050;G66060;RH98732;RPS4Y-1;RPS4Y-2;RPS4Y-3;RPS4Y-4;RPS4Y-5;RPS4Y-6;RPS4Y-7;SHGC-1318 MGC119100;MGC5070;RPS4Y;S4 40S ribosomal protein S4, Y;40S ribosomal protein S4, Y isoform 1;OTTHUMP00000034363;OTTHUMP00000034364;ribosomal protein S4Y APPROVED protein-coding 10425 15963 470000 REVIEWED 736632 RPS5 ribosomal protein S5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55942629 55950164 + 63590448 63597983 + 58898636 58906171 + 1580863;6480464 18464793;15883184;15189156;12588972;8706699;17901157;15635413;15489334;12651107;12477932;11875025;11790298;11751223;9582194;8722009;8318536;8125298;7821789;7772601;21145461;21319273;18809582;19807034;16159877;22863883;23181366;23184937;22939629;21252943;22586326;16196087;19167051;19471022;21045808;21139048;21693764;21890473;21906983;21942715;21987572;22145905;22178446;19380743;22174317;22505724;6188845 6193 M0QZN2;M0R0F0;M0R0R2;P46782 AB007149;AB061853;ABBA01020771;AC012313;AK223106;AK311938;AMYH01010035;BC015405;BC018151;BC018828;BC035830;BG329390;BG687415;CH471135;D28455;NM_001009;U14970 AAA85658;AAH15405;AAH18151;ABM82710;ABM85894;BAA05821;BAA25815;BAB79493;BAD96826;BAG34879;EAW72581;EAW72582;EAW72583;NP_001000;P46782 Hs.378103 1762453;1765021;2118355;2134566;5122151 A009W25;RP_S5;SHGC-146278;SHGC-148568;WI-18669 S5 40S ribosomal protein S5 APPROVED protein-coding ENSG00000083845 10426 04695 603630 REVIEWED 1353859 RPS4X ribosomal protein S4, X-linked Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] X X q13.1 71409178 71413866 - 71492453 71497141 - 6480464 9889097;8358435;1795030;15189156;12588972;8706699;2124517;8139551;15883184;15489334;14702039;14660691;12477932;11790298;11721045;11401437;9582194;8808278;8722009;8557258;8125298;8076819;2829364;16169070;21145461;21319273;17289661;17643375;21182205;22863883;20308691;22939629;16196087;20434207;17620599;22586326;12777385;18274552;18457437;18781797;19850743;21081666;21139048;21890473;21906983;21987572;22178446;18259216;22145905;21628590;21853274;22174317;22505724;22797925;6188845 6191 A6NH36;B2R491;P62701 ABBA01046212;AF041428;AK097914;AK222479;AK311745;AL135749;AMYH01022553;BC000472;BC007308;BC071662;BC100903;BC100904;BU192706;CH471213;CR456735;L24369;M22146;M58458;NG_012524;NM_001007;Z70767 AAA36597;AAA63255;AAB96968;AAH00472;AAH07308;AAH71662;AAI00904;AAI00905;AAN87119;ABM84522;ABM85850;BAD96199;BAG34688;BAG53549;CAA94808;CAG33016;EAW71815;EAW71816;EAW71817;NP_000998;P62701 Hs.118076 2128456;2131145;2169754;2186180;2190859;5015443;5112515;5117178 DXS6724;G36429;GDB:192505;GDB:451634;RH48402;RPS4X;RPS4X-chi;STS-N95431 CCG2;DXS306;FLJ40595;RPS4;S4;SCAR;SCR10 40S ribosomal protein S4, X isoform;OTTHUMP00000023537;cell cycle gene 2;ribosomal protein S4X isoform;single copy abundant mRNA protein;single-copy abundant mRNA APPROVED protein-coding 10424 02427 312760 REVIEWED 735279 RPS6 ribosomal protein S6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 9 9 p21 19366254 19370235 - 19376254 19380235 - 6480464;6907045 1301164;16314389;15883184;15189156;12588972;15809305;2334893;18565837;18362888;18157089;18039684;17726024;17081983;15489334;15477556;15121898;15051500;12820960;12477932;12045200;11790298;11438723;9582194;8722009;8706699;8500771;8440735;8076819;3279029;2840355;1985906;1837589;1712897;1446836;710442;12586835;21145461;14702039;15590835;16169070;16286006;16428328;16810323;17220478;18348264;18423201;18642007;18697920;18809582;8590812;17565818;21067588;20617335;19417104;21182205;20625781;21147110;21233202;19954658;21102526;22863883;20811636;22939629;18029348;20434207;21765940;16196087;21734034;15303970;18274552;18457437;19596686;21045808;21968813;17620599;21792700;22367689;22586326;22145905;21139048;21726808;21890473;21906983;21987572;22178446;22451389;17361185;18632687;21628590;17693255;21460630;22174317;22505724;22797925;6188845 6194 A2A3R5;A2A3R6;A2A3R7;P62753 AB062123;ABBA01065196;AK093634;AK291517;AK311861;AL391834;AMYH01019269;BC000524;BC009427;BC013296;BC027620;BC035447;BC071907;BC071908;BC094826;CH471071;D28348;J03537;M20020;M77232;NM_001010;X67309 AAA60287;AAA60288;AAA60289;AAH00524;AAH09427;AAH13296;AAH27620;AAH71907;AAH71908;AAH94826;ABM82670;ABM85951;BAA05714;BAB93455;BAF84206;BAG34802;CAA47719;EAW58635;EAW58636;EAW58637;EAW58638;EAW58639;EAW58640;EAW58641;EAW58642;EAW58643;NP_001001;P62753 Hs.408073 1648756;1667335;5127402 D9S785;RH47306;SHGC-56925 S6 40S ribosomal protein S6;OTTHUMP00000021120;OTTHUMP00000021121;OTTHUMP00000021122;phosphoprotein NP33 APPROVED protein-coding ENSG00000137154 10429 01592 180460 REVIEWED 732451 RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 p 26728836 26774107 + 26856249 26901520 + 1580863;2315047;6480464;6484113;6907045 16421520 16282323;9770464;8141249;18029348;16626623;19470470;19332537;19150432;18950845;14709557;14702039;12917364;12917345;12897128;12842905;12832467;12618428;12594221;12569367;12477932;12393804;12235136;12213813;12093745;12080086;12036856;12019261;11914378;11861786;11551945;11507039;11500364;11432835;11297520;11260258;11175347;11171059;11139588;10980595;10949026;10880354;10837486;10753652;10723127;10673502;10648825;10635333;10521512;10480933;10469565;10318869;9915826;9829964;9721103;9687510;9528769;9430688;9381178;9353277;9218456;9214631;9030586;8939914;8756728;8688081;8663493;8630373;8601309;8413226;8248197;8125298;18722121;18450423;18084084;17965187;17634259;17192257;17081983;16738324;16710414;16341674;16223362;16213824;15905173;15861136;15647351;15615708;15489334;15342917;15206906;15121878;15117958;15112576;15073170;15024086;22674792;22357623;22683790;1545828;1545823;15910284;15757502;12626518;19913121;20628086;11160957;16217014;19675165;19716794;19808666;20048145;22249268;21035469;20304964;15276183;20849292;21044953;15929978;21075852;18402937;9261139;17512525;22863883;21423205;10679322;11684016;18813292;21501342;21832046;21900206;22031759;22427657;21139048;21890473;21906983;18451027;22006917;22586265;9914500;22050627;22246185;19036157;21963094;21987572;22939624;23401857;22865467;16039586;22505724 6195 A6NND1;E9PAN7;E9PGT3;E9PMM7;E9PPC1;E9PPN6;E9PRI4;Q5SVM6;Q5SVM7;Q96C05 ABBA01034911;ABBA01034912;ABBA01034913;ABBA01034914;AK092955;AK225672;AK292722;AK294818;AK299007;AK315730;AL109743;AL627313;AMYH01000402;BC014966;BC039069;BF982517;BM836865;CH471059;L07597;NM_001006665;NM_002953 AAC82497;AAH14966;ABM83168;ABM86369;BAF85411;BAG38085;BAH11893;BAH12926;CAC36348;EAX07798;EAX07799;EAX07800;NP_001006666;NP_002944;Q15418 Hs.149957 1667080;1671740;1779324;1781706;1851101;2109777 G34845;RH70250;RPS6KA1_8600;SHGC-153325;SHGC-155194;SHGC-74446 HU-1;MAPKAPK1A;RSK;RSK1 90 kDa ribosomal protein S6 kinase 1;MAP kinase-activated protein kinase 1a;MAPK-activated protein kinase 1a;MAPKAP kinase 1a;MAPKAPK-1a;OTTHUMP00000004113;OTTHUMP00000004114;OTTHUMP00000004115;OTTHUMP00000233803;OTTHUMP00000233804;OTTHUMP00000233807;RSK-1;S6K-alpha 1;S6K-alpha-1;dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1);p90-RSK 1;p90RSK1;p90S6K;ribosomal S6 kinase 1;ribosomal protein S6 kinase alpha 1;ribosomal protein S6 kinase alpha-1;s6 protein kinase (rsk-1) APPROVED protein-coding ENSG00000117676 10430 03402 601684 REVIEWED 1348784 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 6 6 q27 166742844 167195761 - 166822854 167275771 - 1580863;2315047;6480464;6907045 16421520 17192257;16895915;16878154;16621805;15995633;15489334;15345747;15112576;14702039;14646589;14574404;12897128;12477932;12393804;12016217;11698596;11495723;11175347;10949026;10880354;10837486;10521512;10501965;10480933;9915826;9829964;9687510;9381178;8939914;8688081;8663493;1602151;12832467;8756728;9770464;7623830;8141249;16626623;9155018;11160957;16217014;20379614;15276183;21035469;22939629;21527514;17370265;23455922;23635776;21988832;22939624;23128233;23259602 6196 B7Z3B5;D6R910;D6RA62;D6RD75;D6RE03;D6RHW7;F2Z2J1;Q15349;Q5TI62 AA588877;AB073884;AB209116;ABBA01033438;ABBA01033439;ABBA01033440;ABBA01033441;ABBA01033442;ABBA01033443;AF140710;AK027727;AK095751;AK295674;AK307470;AK310428;AL022069;AL023775;AL159163;AMYH01016849;AMYH01016850;AMYH01016851;AMYH01016852;AX019387;BC002363;BC011189;BF205134;BF339000;BI836819;BQ029058;BU160797;BU617697;CH471051;L07598;NM_001006932;NM_021135;X85106;Z98049 AAC82496;AAH02363;ABM82790;ABM85979;BAD92353;BAG53121;BAH12151;CAA59427;CAC07738;EAW47522;EAW47523;EAW47524;NP_001006933;NP_066958;Q15349 Hs.655277 1336728;1338459;1680793;1694486;1717129;1720087;1753519;1767874;2119211;2133871;2146158;2161860;2176318;2178078;2180799;2186273;2219654 A002B12;AL022447;AL023486;AL023487;D6S1169E;D6S1585;D6S297;RH121484;RH121975;RH123785;RH45609;RH65049;RPS6KA2__5527;SHGC-107446;SHGC-57104;STS-W96228;WI-17352 HU-2;MAPKAPK1C;RSK;RSK3;S6K-alpha;S6K-alpha2;p90-RSK3;pp90RSK3 90 kDa ribosomal protein S6 kinase 2;MAP kinase-activated protein kinase 1c;MAPK-activated protein kinase 1c;MAPKAP kinase 1c;MAPKAPK-1c;OTTHUMP00000017601;OTTHUMP00000219225;OTTHUMP00000219226;OTTHUMP00000219227;OTTHUMP00000219228;RSK-3;S6K-alpha-2;p90-RSK 2;p90RSK2;ribosomal S6 kinase 3;ribosomal protein S6 kinase alpha 2;ribosomal protein S6 kinase alpha-2 APPROVED protein-coding ENSG00000071242 10431 03403 601685 REVIEWED 1348524 RPS6KB3 ribosomal protein S6 kinase, 70kDa, polypeptide 3 6200 10438 1316377 RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and c-fos. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 11 11 q11-q13 63883201 63896263 + 64126625 64139687 + 1580863;2315047;6480464;6907045 16421520 9792677;11035004;17495961;17192257;12773393;12477932;11909979;11438671;11175347;10806207;9921902;9829964;9687510;8688081;8125298;19933278;20864036;18029348;20805296;21385567;21399635;18508628;22939629;21252943;22019778;19953087;21890473;21906983;22318606;19531213;23128233 8986 A0PJF8;E9PJN1;E9PKU3;G3XAA9;O75676 ABBA01003301;AF074715;AJ010119;AK223561;AK292163;AK298507;AK313567;AMYH01003706;AP003774;BC020451;BC028079;BC047896;BI523588;CH471076;HH961746;NM_001006944;NM_003942 AAC67395;AAH28079;AAH47896;BAD97281;BAF84852;BAG60713;CAA09009;CBX51346;EAW74260;EAW74261;EAW74262;EAW74263;NP_001006945;NP_003933;O75676 Hs.105584 1688504 RH93227 MSK2;RSK-B 90 kDa ribosomal protein S6 kinase 4;OTTHUMP00000043253;OTTHUMP00000230475;OTTHUMP00000230477;RSKB;S6K-alpha-4;mitogen- and stress-activated protein kinase 2;nuclear mitogen- and stress-activated protein kinase 2;ribosomal protein S6 kinase alpha 4;ribosomal protein S6 kinase alpha-4;ribosomal protein kinase B APPROVED protein-coding ENSG00000162302 10433 04677 603606 REVIEWED 1350176 RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [provided by RefSeq, Jan 2010] X X q21 83205640 84362350 - 83313354 83442943 - 1580863;2315047;6480464;6907045 16421520 10644430;18628456;18029348;17314274;16865262;15772651;15632195;12477932;16169070;22297070;14702039;11160957;12832467;19584160;19679225;21832049;22939629;21239520;15042092;21372219;21384559;21890473;21963094;22939624;23635776;21900206;21987572;21875487;17709345;22020623 27330 B7ZL90;Q9UK32 ABBA01051519;ABBA01051520;ABBA01051521;ABBA01051522;ABBA01051523;ABBA01051524;ABBA01051525;ABBA01051526;ABBA01051527;ABBA01051528;ABBA01051529;ABBA01051530;ABBA01051531;ABBA01051532;ABBA01051533;ABBA01051534;AC003001;AF184965;AK023104;AK026301;AK310346;AK313240;AL022160;AL035552;AL121867;AL354653;AL389887;AL590228;AL593849;AL603626;AMYH01022659;BC143647;BC143648;BQ448025;CH471104;CR536566;CS172421;NG_016340;NM_014496 AAF13190;AAI43649;AAI46381;AAI48803;BAG36051;CAG38803;CAJ32899;EAW98575;NP_055311;Q9UK32 Hs.234478 1691106;1711424;2109779;2134933;2145670;2162583;2177740;5015619;5015861;7185938 D10S16;D11S3114;G42197;L47791;RH68814;RH94074;RPS6KA6_9548;SGC35226;STS-H82897 PP90RSK4;RSK4 90 kDa ribosomal protein S6 kinase 6;OTTHUMP00000023618;RSK-4;S6K-alpha 6;S6K-alpha-6;p90-RSK 6;p90RSK6;ribosomal S6 kinase 4;ribosomal protein S6 kinase alpha-6 APPROVED protein-coding 10435 02250 300303 REVIEWED 1354498 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008] X X p22.2-p22.1 20077950 20194671 - 20168029 20284750 - 1580863;1601643;1601644;2315047;6480464;6484113;6907045;7240710 8955270;10319851;16421520 9887375;19150432;19129453;18775331;18722121;18156174;17938253;17318637;17213202;17192257;17100996;17081983;16964243;16879200;16691578;16537434;16223362;15879597;15833840;15772651;15515167;15489334;15109498;14986828;14973203;14702039;14678837;12832467;12796492;12792428;12777533;9770464;8141249;10436156;18029348;16626623;19453261;19435896;12773393;12601080;12562765;12477932;12439904;12393804;12387894;12054624;11992250;11896450;11853558;11752456;11564891;11544290;11507039;11495723;11438671;11432835;11311121;11297520;11181841;11175347;11160957;11139588;10862698;10856237;10739259;10528858;10480933;10094187;9915826;9837815;9832145;9829964;9687510;9546672;9528769;9353289;8688081;7943043;7813820;7623830;7566098;7523419;1374067;8939914;11157753;15861136;15919995;21183680;16217014;17225856;19716794;20234090;20383198;20385620;15276183;20819778;20301520;21061166;21501342;18402937;21614984;21224359;18813292;17512525;22863883;22918890;21619683;21930553;21900206;22031759;19953087;21139048;21890473;19036157;22113269;22685297;21963094;21987572;21988832;22939624;23041051;23329845;23118220 6197 B1AXG1;B1AXG2;B4DG22;B7ZB17;F5GYC4;P51812 AA317826;AA858312;AB102311;AB102312;AB102313;AB102314;AB102315;AB102316;AB102317;AB102318;AB102319;AB102320;AB102321;AB102322;AB102323;AB102324;AB102325;AB102326;AB102327;AB102328;AB102329;AB102330;AB102371;AB102372;AB102373;AB102374;AB102375;AB102376;AB102377;AB102378;AB102379;AB102380;AB102381;AB102382;AB102383;AB102384;AB102385;AB102386;AB102387;AB102388;AB102389;AB102390;AB102662;AB208933;ABBA01071847;ABBA01071848;ABBA01071849;ABBA01071850;ABBA01071851;ABBA01071852;ABBA01071853;ABBA01071854;ABBA01071855;ABBA01071856;ABBA01071857;ABBA01071858;AK022869;AK294373;AK296775;AK313932;AK316482;AL732366;AL807772;AMYH01022134;AV684171;BC015451;BC096301;BC096302;BC096303;BQ427696;BU618685;CA843287;CA843526;CK905714;L07599;NG_007488;NM_004586;U08316;W00439 AAA81952;AAC82495;AAH96301;AAH96302;AAH96303;BAC80810;BAC80811;BAC80812;BAC80813;BAC80814;BAC80815;BAC80816;BAC80817;BAC80818;BAC80819;BAC80820;BAC80821;BAC80822;BAC80823;BAC80824;BAC80825;BAC80826;BAC80827;BAC80828;BAC80829;BAC80870;BAC80871;BAC80872;BAC80873;BAC80874;BAC80875;BAC80876;BAC80877;BAC80878;BAC80879;BAC80880;BAC80881;BAC80882;BAC80883;BAC80884;BAC80885;BAC80886;BAC80887;BAC80888;BAC80889;BAC81131;BAD92170;BAG36651;BAG57633;BAG59354;BAH14853;NP_004577;P51812 Hs.445387 1670847;1702376;1772905;1791185;1849838;1854510;2121481;2166231;5022450;5037552;5094034;5106102 1037J10_T7;A010B08;D10S275;D2S2582;D8S2279;DXS1516;DXS6969E;G33067;RH36312;RH69875;RPS6KA3;WI-20350 CLS;HU-3;ISPK-1;MAPKAPK1B;MRX19;RSK;RSK2;S6K-alpha3;p90-RSK2;pp90RSK2 90 kDa ribosomal protein S6 kinase 3;MAP kinase-activated protein kinase 1b;MAPK-activated protein kinase 1b;MAPKAP kinase 1b;MAPKAPK-1b;OTTHUMP00000023036;RSK-2;S6K-alpha-3;insulin-stimulated protein kinase 1;mental retardation, X-linked 19;p90-RSK 3;p90RSK3;ribosomal S6 kinase 2;ribosomal protein S6 kinase alpha-3 APPROVED protein-coding ENSG00000177189 10432 02092 300075;300844;303600 REVIEWED 1318046 RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 14 14 q31-q32.1 90406912 90596746 - 91337159 91526993 - 2315047;6480464;6907045 16421520 12690113;12576423;12569367;12477932;12421349;11994045;11909979;11777913;11350938;11297520;11018520;10978317;10880354;10702687;10635333;10521505;10469656;9872331;9343414;11157753;11500364;15797222;12773393;12763138;9687510;12628924;9873047;19251839;19197368;19015318;18424438;17495961;17117922;16762916;16543895;16532028;16479592;16223362;15568999;15489334;15302935;15133024;15010469;14963018;14578350;14551213;12807421;20936779;20408143;19633291;19672773;19706715;19933278;20044958;20089855;20198339;20200978;20354165;20379614;20406806;20864036;15276183;20805296;21282660;17512525;18508628;18511904;20129940;21832049;20596523;21900206;22312446;22626465;21988832;22504420;22939624;20433920 9252 B7Z2Y5;G3V2D1;G3V4D7;H0YJE1;O75582;Q9UG98 ABBA01030488;ABBA01030489;ABBA01030490;AF074393;AF080000;AF090421;AK295266;AK309925;AL050099;AL121784;AL133454;AL159191;AMYH01005948;AMYH01005949;BC017187;BF593074;BG699153;CH471061;NM_004755;NM_182398 AAC31171;AAC69577;AAD23915;AAH17187;BAH12021;CAB43270;EAW81439;EAW81440;NP_004746;NP_872198;O75582 Hs.510225 1652549;1659292;1678433;1696940;1709422;1728705;1770966;2118655;2119387 G35600;G35701;G35828;G35963;G63724;RH101942;RH66186;RH93294;SHGC-81746 MGC1911;MSK1;MSPK1;RLPK 90 kDa ribosomal protein S6 kinase 5;OTTHUMP00000244979;OTTHUMP00000244980;OTTHUMP00000244981;RSK-like protein kinase;RSKL;S6K-alpha-5;nuclear mitogen- and stress-activated protein kinase 1;ribosomal protein S6 kinase alpha-5 protein-coding ENSG00000100784 10434 06789 603607 VALIDATED 2305415 RPS6P10 ribosomal protein S6 pseudogene 10 9 9 p22.1 19126451 19127183 - 19200321 19201053 - 19123937 100270865 ABBA01065206;AL161909;AMYH01019269;NG_010065 RPS6_4_967 pseudo 36730 INFERRED 2305414 RPS6P11 ribosomal protein S6 pseudogene 11 9 9 p24 4554740 4555478 + 4633032 4633770 + 19123937 100270866 ABBA01065421;AL136231;AMYH01019201;NG_010074 RPS6_5_956 pseudo 36270 INFERRED 2305413 RPS6P12 ribosomal protein S6 pseudogene 12 9 9 q21.32 55928951 55929688 - 85358970 85359707 - 19123937 100270867 ABBA01033994;AL133391;AMYH01021452;NG_010080 RPS6_5_991 pseudo 36375 INFERRED 2305523 RPS6P13 ribosomal protein S6 pseudogene 13 9 9 9 q21.33 59559964 59560776 - 88179701 88180441 - 88989850 88990662 - 19123937 392358 ABBA01016310;AL353678;AMYH01021475;NG_010868 RPS6_6_992 pseudo 35772 INFERRED 2305561 RPS6P14 ribosomal protein S6 pseudogene 14 10 10 10 q11.22 43086619 43087324 + 49170760 49171466 + 49500754 49501460 + 19123937 100131396 ABBA01047221;AC074325;AMYH01002636;NG_010363 RPS6_6_1039 pseudo 36738 INFERRED 2304851 RPS6P15 ribosomal protein S6 pseudogene 15 10 10 10 q25.2 106989777 106990542 - 113247924 113248689 - 113257934 113258699 - 19123937 100129732 ABBA01063009;AL607043;AMYH01003070;NG_011016 RPS6_7_1097 pseudo 36942 INFERRED 2305569 RPS6P16 ribosomal protein S6 pseudogene 16 11 11 11 q23.1 109259328 109260007 - 111611304 111614349 - 112106087 112106766 - 19123937 100128923 ABBA01039801;AMYH01004035;AP002884;NG_010818 RPS6_8_1176 pseudo 35668 INFERRED 2305825 RPS6P17 ribosomal protein S6 pseudogene 17 11 11 11 q22.2 99327298 99328118 + 101671001 101671747 + 102165750 102166570 + 19123937 120318 ABBA01039937;AMYH01003991;AP000942;NG_011320 RPS6_7_1168 pseudo 36669 INFERRED 2305057 RPS6P18 ribosomal protein S6 pseudogene 18 12 12 p13.3 4383299 4383902 + 2769103 2769706 + 19123937 100271135 ABBA01048804;AC007618;AMYH01004180;NG_010164 RPS6_8_1191 pseudo 36496 INFERRED 2305056 RPS6P19 ribosomal protein S6 pseudogene 19 12 12 q23.2 101287181 101287999 - 101621878 101622695 - 19123937 100271136 ABBA01053245;AC079953;AMYH01004701;NG_010169 RPS6_9_1270 pseudo 36136 INFERRED 2305416 RPS6P2 ribosomal protein S6 pseudogene 2 2 2 q31.2 173461241 173461895 + 179866845 179867499 + 19123937 100270864 ABBA01062252;AC092640;AMYH01011308;NG_010058 RPS6_1_301 pseudo 36446 INFERRED 2304905 RPS6P20 ribosomal protein S6 pseudogene 20 12 12 q24.33 131777130 131777721 - 131777130 131777721 - 19123937 100271262 ABBA01009555;AC092850;AMYH01004885;NG_010830 RPS6_10_1296 pseudo 36940 INFERRED 2304904 RPS6P21 ribosomal protein S6 pseudogene 21 12 12 12 q24.33 131769474 131770275 + 132152025 132152826 + 132152025 132152826 + 19123937 100271263 ABBA01032807;AC117500;AMYH01004893;NG_010836 RPS6_11_1297 pseudo 36478 INFERRED 2305459 RPS6P22 ribosomal protein S6 pseudogene 22 12 12 12 q14.1 59075567 59076348 + 57700217 57700942 + 59413925 59414706 + 19123937 100129227 ABBA01026681;AC068305;AMYH01004527;NG_011052 RPS6_10_1242 pseudo 35655 INFERRED 2305786 RPS6P24 ribosomal protein S6 pseudogene 24 14 14 14 q12 10390543 10391368 + 29594208 29594921 + 30524367 30525194 + 19123937 100128358 ABBA01061394;AL133372;AMYH01005635;NG_010528 1757573 SHGC-145033 RPS6_12_1345 pseudo 36070 INFERRED 5128914 RPS6P23 ribosomal protein S6 pseudogene 23 13 13 13 q32.3 80669366 80670303 + 98623849 98624686 + 99825808 99826745 + 100130313 ABBA01027127;AL391122;AMYH01005326;NG_009870 pseudo 39581 INFERRED 2304406 RPS6P25 ribosomal protein S6 pseudogene 25 19 19 19 p13.2 12894616 12895433 + 12865914 12866694 + 13004908 13005725 + 6480464 19123937 729389 ABBA01029763;AD000092;AMYH01009497;NG_009292;NG_010244 RPS6_13_1629 pseudo 35948 INFERRED 2305479 RPS6P26 ribosomal protein S6 pseudogene 26 X X X q13.2 73879359 73880196 - 73512685 73513445 - 73595925 73596761 - 19123937 392497 ABBA01059573;AC004386;AMYH01022614;NG_010262 RPS6_11_1786 pseudo 36713 INFERRED 2305492 RPS6P4 ribosomal protein S6 pseudogene 4 3 3 3 q26.1 161222432 161236619 + 164302521 164316636 + 162819827 162833942 + 19123937 100131548 ABBA01058774;AC128685;AMYH01013617;NG_011139 RPS6_2_432 pseudo 36548 INFERRED 2305625 RPS6P3 ribosomal protein S6 pseudogene 3 2 2 2 q11.2 96327461 96328283 - 101492451 101493196 - 102125983 102126805 - 19123937 644013 ABBA01073911;AC092570;AMYH01010814;NG_010900 RPS6_1_251 pseudo 36943 INFERRED 2304349 RPS6P5 ribosomal protein S6 pseudogene 5 4 4 4 q13.1 63093524 63094356 - 65315453 65316210 - 65632824 65633656 - 19123937 100130347 ABBA01022866;AC104689;AMYH01014238;NG_010236 RPS6_2_487 pseudo 36242 INFERRED 2305869 RPS6P7 ribosomal protein S6 pseudogene 7 6 6 6 q14.1 78588810 78593960 + 78258031 78263179 + 78201312 78206460 + 19123937 100128162 ABBA01040387;AL390316;AMYH01016445;NG_010850 1765837 SHGC-149259 RPS6_3_716 pseudo 36092 INFERRED 2305751 RPS6P8 ribosomal protein S6 pseudogene 8 6 6 6 q13 74495315 74496044 - 74157482 74158211 - 74100761 74101490 - 19123937 100128450 ABBA01040316;AC019205;AMYH01016425;NG_011004 1827834;1828572;1923626;1923628;1923630;1923632;1923634;1923636;1923638;1923640;1923642;1923644;2207266;2207268 ECD15040;ECD15413;REN32637;REN32638;REN32639;REN32640;REN32641;REN32642;REN32643;REN32644;REN32645;REN32646;stSG625861;stSG625862 RPS6_3_713 pseudo 36999 INFERRED 2305531 RPS6P9 ribosomal protein S6 pseudogene 9 8 8 8 q22.3 100966960 100967783 + 104849685 104850433 + 104780468 104781291 + 19123937 100131467 ABBA01037644;AC090686;AMYH01018944;NG_010727 RPS6_4_936 pseudo 35938 INFERRED 5130802 RPS7P10 ribosomal protein S7 pseudogene 10 13 13 13 q12.11 3264925 3265586 - 21100529 21124290 - 22202537 22203198 - 6480464 100128060 ABBA01068608;AL139378;AMYH01004959;NG_009676 1752585 SHGC-106483 pseudo 39903 INFERRED 1344088 RPS7P1 ribosomal protein S7 pseudogene 1 17 17 17 q11.2 23653924 23654600 + 23815539 23822160 + 26794796 26795472 + 19123937 388363 ABBA01015055;AC015917;AMYH01008279;NG_005669 RPS7_4_1531 pseudo 17081 INFERRED 731644 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013] 17 17 q23.1 55325225 55382569 + 57970443 58027787 + 1625616;1580863;1642984;1643028;1642977;1642978;1642998;2308795;1643017;1643022;1643025;1643026;6480464;6484113;6907045 16885148;17885021;16169275;15769867;15604215;16540832;19339977;16221708;16043946;14695116;15692808 1922062;15314020;15809305;19285034;19266162;19240722;19112174;19085255;19065636;18952604;18829578;18813808;18660489;18652687;18565837;18461003;18423201;18025271;17936702;17908691;17622239;17616691;17604271;17599906;17569770;17427199;17255101;17081983;17053147;17052453;17045920;16964243;16962100;16914728;16883576;16839745;16826166;16818690;16715128;16469801;16434552;16407298;16286006;16262259;16049009;15953364;15899889;15843522;15812314;15790787;15723049;15696579;15659381;15623621;15589845;15533996;15474452;15342556;15341740;15319361;15304500;15236312;15203190;15158097;15071500;15028555;15024086;14709557;14702039;12869548;12801526;12759354;12747804;12733712;12586835;12477932;12054624;12052877;12023960;12019261;11914378;11853558;11516946;11500364;11438723;11297520;11171059;11013237;10973943;10601311;10197603;9804755;9653190;9445476;9427642;17336708;20374740;21981924;22113269;22544753;9271440;8871403;10807185;10089566;16895915;16837165;12604610;12150926;16640565;16931574;16899564;10200280;11733037;15249583;16922504;16183647;15905173;15896331;15854902;14679009;12150925;10971657;10567431;9465032;15149849;19913121;20599538;20599721;20628086;21184268;19815051;20657550;11279232;14673156;16109716;16364302;16763566;16810323;18279656;19168580;19730801;19801633;19864428;19881535;19889638;19914247;19995915;20137651;20157535;20173664;20187284;20190034;20731018;20410302;21067588;21832049;20459645;20423989;20617335;20819778;21035469;21048031;21292829;19936974;20932932;21224254;17512525;22977662;22574368;22871496;21228102;21289241;21609291;20961652;21444676;21093473;21258406;21297943;21390332;21536668;23739915;21541441;19961954;21424608;21467264;21561857;21757621;21440577;21900206;21986499;22348058;21397856;22705322;18451027;19953087;11331760;11774034;12014987;12529391;17310252;21602892;22684641;23273915;21833088;22110663;22442669;22248270;22457523;22645648;22439934;19322201;20953835;21710263;22286763;12718876;15066126;17043309;17386266;17693255;21071439;21460630;22493283;19553685;22391570;18505677;21988832;22939624;23184942;23393338;23128233;23251661;23330000;20433920;23045529 6198 B2R779;B4DLT4;B4DTG1;F6UYM1;K7EIM2;K7EMM2;K7ER06;P23443;Q7Z721 AA424792;ABBA01003180;ABBA01003181;ABBA01003182;AC004686;AI806441;AK026730;AK091503;AK293247;AK297147;AK300202;AK312875;AMYH01008526;BC030763;BC036033;BC053365;BG614269;BP359158;BQ719717;CA444907;CB050838;CH471109;CS498704;M60724;NG_029513;NM_001272042;NM_001272043;NM_001272044;NM_001272060;NM_003161 AAA36410;AAH36033;AAH53365;BAG35726;BAG56781;BAG59646;BAG61973;CAM82744;EAW94382;EAW94383;EAW94384;NP_001258971;NP_001258972;NP_001258973;NP_001258989;NP_003152;P23443 Hs.463642 1337337;1654322;1691718;1846588;1853449;2172758;2190903 D17S1554;D17S1604;D17S1994;G42204;MARC_10535-10536:1000147856:1;RH69849;WI-17810 PS6K;S6K;S6K-beta-1;S6K1;STK14A;p70 S6KA;p70(S6K)-alpha;p70-S6K;p70-alpha 70 kDa ribosomal protein S6 kinase 1;OTTHUMP00000198109;OTTHUMP00000198110;P70S6K1;S6K-beta-1;p70 S6 kinase alpha;p70 S6 kinase, alpha;p70 S6 kinase, alpha 1;p70 S6 kinase, alpha 2;p70 S6K-alpha;p70 S6KA;p70 ribosomal S6 kinase alpha;p70-S6K 1;ribosomal protein S6 kinase I;ribosomal protein S6 kinase beta-1;s6 kinase;serine/threonine kinase 14 alpha;serine/threonine-protein kinase 14A APPROVED protein-coding ENSG00000108443 10436 10202 608938 REVIEWED 2305314 RPS7P12 ribosomal protein S7 pseudogene 12 X X q26 134171670 134172335 + 133784813 133785478 + 19123937 100270914 ABBA01042470;AL672032;AMYH01022994;NG_010350 RPS7_6_1816 pseudo 36147 INFERRED 2305514 RPS7P11 ribosomal protein S7 pseudogene 11 17 17 17 q21.31 41248410 41249102 - 42154072 42154785 - 44798914 44799606 - 6480464 19123937 644315 ABBA01041103;AC004098;AC217780;AMYH01008444;NG_011130 RPS7_6_1552 pseudo 35841 INFERRED 1313003 RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates the S6 ribosomal protein and eucaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jul 2008] 11 11 q13.2 66952511 66959455 + 67195935 67202879 + 1625616;1580863;2308795;6480464;6907045 16885148;19339977 9878560;9804755;10490848;17786541;17081983;15489334;15071500;15051500;14729629;12875979;12818373;12713446;12569102;12529391;12477932;12176053;12087098;11753643;11733037;11108720;11108711;10490847;16640565;21444676;11500364;15589845;16763566;16810323;20308064;20098747;20819778;21035469;20932932;22955948;21427355;22939629;19961954;19953087;21900206;20953835;21988832;23393338 6199 B4DML8;E9PIP7;E9PQF6;G3V2F1;Q9UBS0;R4GN47 AB016869;AB019245;AB208827;ABBA01024034;AF076931;AF099739;AK297527;AMYH01003747;AP003419;BC000094;BC006106;BC136564;BX337895;BX538119;CH471076;NM_003952 AAD20990;AAD46063;AAH00094;AAH06106;AAI36565;BAA34402;BAA37145;BAD92064;BAG59930;EAW74618;EAW74619;EAW74620;EAW74621;NP_003943;Q9UBS0 Hs.534345 1771402;2167621;5015404;5015861;5016478;5020740;5021228;5024413;5037552;5118444;7185938 D10S16;D11S3316;D8S2279;GDB:312794;GDB:434012;L17705;L17809;L17877;RH41895;STS-X97267 KLS;P70-beta;P70-beta-1;P70-beta-2;S6K-beta2;S6K2;SRK;STK14B;p70(S6K)-beta;p70S6Kb 70 kDa ribosomal protein S6 kinase 2;OTTHUMP00000236409;P70S6K2;S6 kinase-related kinase;S6K-beta;S6K-beta-2;p70 S6 kinase beta;p70 S6K-beta;p70 S6KB;p70 ribosomal S6 kinase beta;p70-S6K 2;ribosomal protein S6 kinase beta-2;serine/threonine-protein kinase 14 beta;serine/threonine-protein kinase 14B APPROVED protein-coding ENSG00000175634 10437 10203 608939 REVIEWED 2305897 RPS7P13 ribosomal protein S7 pseudogene 13 X X X q21.33 95458726 95459358 - 94820797 94823240 - 94934098 94934730 - 19123937 100130435 ABBA01064699;AL365400;AMYH01022694;NG_010681 1340374 DXS6809 RPS7_7_1794 pseudo 35756 INFERRED 7247098 RPS7P15 ribosomal protein S7 pseudogene 15 4 p16.2 4508772 4509560 + 728015 ABBA01008246;AC013725;AMYH01013903;NG_030264 pseudo 48878 INFERRED 2305726 RPS7P14 ribosomal protein S7 pseudogene 14 X X X q13.2 73912743 73913404 + 73544402 73546660 + 73629318 73629979 + 19123937 646108 AC004073;AMYH01022614;NG_011138 2126497;2147708 AFM316vb5;DXS7738 RPS7_5_1787 pseudo 36602 INFERRED 2305412 RPS7P2 ribosomal protein S7 pseudogene 2 1 1 q21 127123641 127124185 + 154051898 154052441 + 19123937 100270868 ABBA01049465;AL358472;AMYH01001409;NG_010085 RPS7_1_102 pseudo 36079 INFERRED 2305118 RPS7P3 ribosomal protein S7 pseudogene 3 1 1 1 q42.2 206694738 206695420 - 231491180 231491888 - 233424555 233425237 - 19123937 440732 ABBA01033075;AL133380;AL359819;AMYH01001829;NG_009603 RPS7_2_175 pseudo 36518 INFERRED 2305840 RPS7P5 ribosomal protein S7 pseudogene 5 1 1 1 q43 213431357 213432023 + 238237447 238243187 + 240170824 240176560 + 19123937 645884 ABBA01033227;AK098605;AL356361;AMYH01001873;NR_036695 Hs.613280 RPS7_2_183 pseudo 37037 VALIDATED 2305411 RPS7P6 ribosomal protein S7 pseudogene 6 4 4 p15.31 17894560 17895244 - 17429288 17429972 - 19123937 100270869 ABBA01032605;AC093600;AMYH01014033;NG_010094 RPS7_3_462 pseudo 36334 INFERRED 2305410 RPS7P7 ribosomal protein S7 pseudogene 7 4 4 p13 42921661 42922279 + 42473792 42474410 + 19123937 100270870 ABBA01014289;AC084010;AMYH01014136;NG_010101 RPS7_3_472 pseudo 35690 INFERRED 2305770 RPS7P4 ribosomal protein S7 pseudogene 4 1 1 1 p31.3 66998726 66999396 - 68480682 68499240 - 68708112 68708782 - 6480464 19123937;21145461;20200978;21628590 149224 ABBA01074511;AL513284;AMYH01000692;NG_011195 2126497 AFM316vb5 RPS7_1_61 pseudo 36000 INFERRED 2305694 RPS7P8 ribosomal protein S7 pseudogene 8 6 6 6 q16.1 97738422 97739074 - 97203086 97203711 - 97096331 97096983 - 19123937 442237 ABBA01014524;AL355143;AMYH01016528;NG_010648 1706994;1718009 RH122621;SHGC-80997 RPS7_4_725 pseudo 35710 INFERRED 2305645 RPS7P9 ribosomal protein S7 pseudogene 9 10 10 10 q23.1 76466969 76467635 - 82466219 82466804 - 82476224 82476890 - 19123937 100128756 ABBA01003790;AL732389;AMYH01002885;NG_011267 RPS7_5_1072 pseudo 36998 INFERRED 1345119 RPS8P1 ribosomal protein S8 pseudogene 1 14 14 14 q32.33 86375157 86375859 - 105515599 105516301 - 106444554 106445256 - 19123937;9841928 192133 AB019441;ABBA01074086;AMYH01006100;NG_001019 RPS8_5_1417 pseudo 19789 VALIDATED 2304990 RPS8P10 ribosomal protein S8 pseudogene 10 15 15 15 q11.2 88499 89199 - 19941517 19942223 - 22440169 22440869 - 6480464 19123937 388076 ABBA01015827;AC010760;AMYH01006364;CH878371;NG_011225 EAW50487 RPS8_6_1418 pseudo 35628 INFERRED 1351567 RPS8P3 ribosomal protein S8 pseudogene 3 18 18 18 q21.2 46227418 46228102 - 47625316 47637246 - 49371320 49372004 - 19123937 100132995 ABBA01018693;AC022701;AMYH01009002;NG_010683 2160116 G19292 HsT2707;RPS8_7_1602 pseudo 31000 INFERRED 1602393 RPS6P1 ribosomal protein S6 pseudogene 1 12 12 12 p13.1 18152702 18153496 + 12895161 12895941 + 13003891 13004685 + 6480464 19123937;12477932 440086 ABBA01067855;AC007688;AMYH01004292;NG_009657 RPS6_9_1210 pseudo 32478 INFERRED 1348940 RPS8P4 ribosomal protein S8 pseudogene 4 10 10 10 q26.11 115128964 115129665 + 121387958 121388584 + 121397945 121398646 + 19123937 646119 ABBA01062891;AC012468;AMYH01003116;CH471066;NG_009795 EAW49384 1688496 RH48160 RPS8_2_1103 pseudo 17478 VALIDATED 2305670 RPS8P5 ribosomal protein S8 pseudogene 5 3 3 3 p14.3 57529815 57530495 - 57491112 57491734 - 57516020 57516700 - 19123937 100131083 ABBA01024416;AC092418;AMYH01013223;NG_010028 RPS8_2_374 pseudo 36417 INFERRED 2305409 RPS8P6 ribosomal protein S8 pseudogene 6 3 3 p26.1 295643 296245 - 350400 351002 - 19123937 100270871 ABBA01020510;AC026187;AMYH01012928;NG_010107 RPS8_1_339 pseudo 36947 INFERRED 2305758 RPS8P7 ribosomal protein S8 pseudogene 7 5 5 5 q35.3 175279306 175279973 - 179585903 179589899 - 179653333 179654000 - 19123937 646093 ABBA01010059;AC104115;AMYH01015965;NG_011062 1688496;2143804 D5S2450;RH48160 RPS8_3_645 pseudo 35795 INFERRED 2305349 RPS8P8 ribosomal protein S8 pseudogene 8 5 5 5 p13.3 33043852 33044555 + 33198007 33198740 + 33162262 33162965 + 6480464 19123937 728553 ABBA01066751;AC010343;AC022443;AMYH01015004;NG_011203 1683110;2131892 D18S1237;SHGC-2466 RPS8_1_552 pseudo 36213 INFERRED 2305782 RPS8P9 ribosomal protein S8 pseudogene 9 9 9 9 p13.3 34155775 34156495 - 34213930 34214759 - 34223929 34224649 - 19123937 100130750 ABBA01065016;AL353662;AMYH01019335;NG_010982 RPS8_4_974 pseudo 35524 INFERRED 1352180 RPS9P2 ribosomal protein S9 pseudogene 2 22 22 22 q13.2 25266387 25267096 + 39789845 39790767 + 41460000 41460709 + 19123937 267009 ABBA01055618;AL080243;AMYH01012796;NG_002404 RPS9_3_1753;bA12M9.1 pseudo 19428 INFERRED 1349919 RPS9P1 ribosomal protein S9 pseudogene 1 21 21 21 q22.2 22703560 22704272 + 36426491 36427374 + 37504692 37505404 + 19123937;10830953;9740676 8410 ABBA01057384;AMYH01012225;AP000689;AP001725;NG_003259 1690456;1794250 PMC310876P2;RH79780 RPS9P;RPS9_2_1730 pseudo 10443 INFERRED 2305827 RPS9P3 ribosomal protein S9 pseudogene 3 5 5 5 q21.1 94174175 94174815 + 98317973 98318613 + 98290073 98290713 + 19123937 100133054 ABBA01069198;AC022121;AMYH01015494;NG_010983 RPS9_1_598 pseudo 36635 INFERRED 2304419 RPS9P4 ribosomal protein S9 pseudogene 4 19 19 19 q13.33 47092140 47092851 - 54914477 54915207 - 50222683 50223394 - 19123937;19165232;22118674 388556 ABBA01032913;AC011495;AMYH01009918;NG_009020 2041778 REN91926 RPS9_1_1662 pseudo 36710 INFERRED 1319861 RPS6KL1 ribosomal protein S6 kinase-like 1 14 14 14 q24.3 55410717 55427516 - 74442099 74458898 - 75370657 75389145 - 1580863;6480464 14702039;15489334;12508121;12477932;16751776 83694 B4DSP6;H0YJ58;H0YJ80;H0YJB8;H0YJM5;H0YJR0;Q9Y6S9 ABBA01030712;AC006530;AK054800;AK093053;AK131532;AK226137;AK299846;AL390152;AMYH01005857;BC004540;BC036574;CH471061;NM_031464 AAD30182;AAH04540;ABM83938;ABW03554;BAB70808;BAG61708;CAH10661;EAW81203;EAW81204;EAW81205;EAW81206;NP_113652;Q9Y6S9 Hs.414481 2112138;2117747;2183413;5020948;5037530;5037552;5109281 D14S1361;D14S1385;D1S1425;D8S2279;G35510;HSC2LA072;RH78538 FLJ35734;MGC11287 OTTHUMP00000246162;OTTHUMP00000246209;OTTHUMP00000246214;ribosomal protein S6 kinase-like 1 protein-coding 20222 18004 VALIDATED 1346846 RPSAP1 ribosomal protein SA pseudogene 1 20 20 20 q13.13 46451451 46452498 - 49180632 49181711 - 49747241 49748280 - 19123937;23459443 170529 ABBA01052792;AL121915;AMYH01011979;NG_001045 LAMR1P;LAMR1P1;RPSA_24_1712;dJ1193N1.1 laminin receptor 1 pseudogene 1 pseudo 16560 INFERRED 1601682 RPSAP10 ribosomal protein SA pseudogene 10 10 10 10 p12.1 28489034 28490059 + 28668725 28765985 + 28725055 28726080 + 19123937;23251661 401638 ABBA01034376;AC022021;AMYH01002209;NG_009741 1335202;1764839;2166129;7185282 D10S600;G17413;SHGC-148401 LAMR1P10;RPSA_22_1026 pseudo 31460 INFERRED 1349064 RPSAP11 ribosomal protein SA pseudogene 11 3 3 3 p22.3 32169551 32170577 + 32206655 32208202 + 32232163 32233189 + 19123937;18063583;1649122 645326 ABBA01024946;AC097639;AMYH01013057;NG_006441 LAMR;LAMR1P11;LAMRL1;LAMRP1;RPSA_9_357 pseudo 6503 INFERRED 1347545 RPSAP13 ribosomal protein SA pseudogene 13 14 14 q22.3 35520963 35521971 - 55471473 55472481 - 19123937;1649122 3923 ABBA01018200;AL160471;AMYH01005744;NG_010441 LAMR1P13;LAMRL3;LAMRP3;RPSA_20_1366 pseudo 6505 INFERRED 1350131 RPSAP12 ribosomal protein SA pseudogene 12 12 12 12 q15 68610454 68611487 - 67232945 67247715 - 68946705 68947738 - 19123937;1649122;21145461 387867 ABBA01026558;AC015550;AMYH01004561;NG_010141 LAMR1P12;LAMRL2;LAMRP2;RPSA_18_1254 pseudo 6504 INFERRED 1344977 RPSAP14 ribosomal protein SA pseudogene 14 X X X q13.2 73534775 73535153 + 73168021 73168399 + 73251296 73251674 + 8401491;1649122 3924 ABBA01059613;AL139400;AMYH01022611;L15458;NG_004075 LAMR1P14;LAMRL4;LAMRP4 laminin receptor 1 pseudogene 14 pseudo 6506 INFERRED 2305408 RPSAP16 ribosomal protein SA pseudogene 16 1 1 q24.2 153045265 153046251 + 179937730 179938716 + 19123937 100270872 ABBA01027804;AL353708;AMYH01001534;NG_010115 RPSA_1_135 pseudo 35478 INFERRED 2305407 RPSAP17 ribosomal protein SA pseudogene 17 1 1 q21 127422309 127423352 - 154350602 154351645 - 19123937 100270873 ABBA01049482;AL162591;AMYH01001415;NG_010120 RPSA_3_103 pseudo 35707 INFERRED 2304374 RPSAP18 ribosomal protein SA pseudogene 18 1 1 1 q23.2 133304823 133305857 - 158502663 158503796 - 160236059 160237093 - 19123937 388707 ABBA01016613;AL139011;AL513282;AMYH01001452;NG_010515 RPSA_4_107 pseudo 36106 INFERRED 1315275 RPS6KC1 ribosomal protein S6 kinase, 52kDa, polypeptide 1 1 1 1 q41 186446090 186668258 + 211291220 211513431 + 213224588 213446808 + 6480464 10552933;17081983;16710414;16344560;15489334;14702039;15750338;14667819;12477932;12077123;21139048;21906983 26750 B4DHE1;F5H7T0;Q96S38 AB070706;ABBA01048158;AF037447;AF477978;AK122921;AK122989;AK295053;AK299298;AL356893;AL512449;AL583826;AL645860;AMYH01001713;AMYH01001714;AMYH01001715;BC104769;BC143449;BC143473;BC143474;BX647303;CH471100;DB060692;NM_001136138;NM_012424 AAF13027;AAI04770;AAL84818;BAB63956;BAG53836;BAG58102;BAG61312;CAB92850;EAW93362;EAW93363;EAW93364;NP_001129610;NP_036556;Q96S38 Hs.591416 1682830;1768385;1849361;1853459;2109781;2127953;2138749;2147043;2147985;2149555;2170675;2183127;5122536 A004D08;AL009758;RH36514;RH91832;RPS6KC1_9502;SHGC-53295;SHGC-76321;SHGC-76323;SHGC-76324;SHGC-76325;SHGC-76327;SHGC-76328;WI-14762 RPK118;humS6PKh1 52 kDa ribosomal protein S6 kinase;OTTHUMP00000035018;OTTHUMP00000035019;S6K-delta-1;SPHK1-binding protein;ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein;ribosomal protein S6 kinase delta-1 protein-coding 10439 10204 VALIDATED 1348591 RPSAP2 ribosomal protein SA pseudogene 2 6 6 6 p22.1 30306102 30307139 + 28805620 28808660 + 28699716 28700751 + 19123937 442181 ABBA01038025;AL390196;AL662890;AL671879;AMYH01016192;NG_009790 LAMR1P2;RPSA_15_672;bA60E24.1 pseudo 18771 INFERRED 2305859 RPSAP20 ribosomal protein SA pseudogene 20 1 1 1 p32.2 54962085 54963147 - 56445858 56446716 - 56673139 56674201 - 19123937 127406 ABBA01074688;AL353681;AMYH01000643;NG_010906 RPSA_1_53 pseudo 35595 INFERRED 1354419 RPSAP15 ribosomal protein SA pseudogene 15 X X X q21.31 87196901 87197933 - 86844904 86858632 - 86958274 86959306 - 1580863;6480464 19123937;9461426;21145461;18160415;11499681;21139048;21906983;18729074 220885 Q96RS2 ABBA01051921;AF284768;AMYH01022672;NG_011100;Z83818 AAK69721 Hs.496451 5017164 D3S3955 LAMR1P15;LAMRL5;RPSA_25_1791 pseudo ENSG00000237506 31464 INFERRED 2304739 RPSAP21 ribosomal protein SA pseudogene 21 1 1 1 q43 210232028 210233066 + 235049559 235050443 + 236982856 236983890 + 19123937 729079 ABBA01033175;AL359185;AMYH01001860;NG_009605 RPSA_2_180 pseudo 36928 INFERRED 2305406 RPSAP22 ribosomal protein SA pseudogene 22 2 2 p12 85546230 85547085 - 85718048 85718903 - 19123937 100270874 ABBA01075751;AC016753;AMYH01010496;NG_010126 RPSA_5_248 pseudo 36435 INFERRED 2305405 RPSAP23 ribosomal protein SA pseudogene 23 2 2 q14.1 109547382 109548350 + 116225561 116226529 + 19123937 100270875 ABBA01045965;AC017040;AMYH01010974;NG_010135 RPSA_5_268 pseudo 36742 INFERRED 2305852 RPSAP24 ribosomal protein SA pseudogene 24 2 2 2 q31.1 168521175 168522196 + 174615982 174616854 + 174907661 174908682 + 19123937 391462 ABBA01062183;AC016737;AMYH01011278;NG_010206 RPSA_6_295 pseudo 36362 INFERRED 2305858 RPSAP25 ribosomal protein SA pseudogene 25 2 2 2 q31.1 170715943 170716978 + 176815085 176815967 + 177106763 177107798 + 19123937 129841 ABBA01062220;AC016739;AMYH01011292;NG_010261 1757635 SHGC-145557 RPSA_7_299 pseudo 36405 INFERRED 2305756 RPSAP19 ribosomal protein SA pseudogene 19 1 1 1 p21.1 100515474 100516506 - 102006945 102025436 - 102251822 102252854 - 6480464 19123937;21139048;21906983 730029 ABBA01045423;AC104334;AL359760;AMYH01000830;BX648992;CH471121;NG_007325 EAW53202 Hs.567943 5017164 D3S3955 DKFZp686O1684;RPSA_2_81 pseudo 36508 INFERRED 2305636 RPSAP27 ribosomal protein SA pseudogene 27 2 2 2 q34 202840693 202841700 + 208781104 208781947 + 209072783 209073790 + 19123937 130429 ABBA01062705;AC016697;AMYH01011452;NG_010650 1341398 D17S1816 RPSA_8_320 pseudo 36650 INFERRED 2304494 RPSAP26 ribosomal protein SA pseudogene 26 2 2 2 p15 62218178 62219207 + 62221969 62228233 + 62373432 62374461 + 19123937 729209 ABBA01075380;AC018462;AMYH01010390;NG_010627 2170679 SHGC-30949 RPSA_3_227 pseudo 36195 INFERRED 2305889 RPSAP28 ribosomal protein SA pseudogene 28 2 2 2 p13.1 73447922 73448934 + 73450655 73451528 + 73597079 73598091 + 19123937 391387 ABBA01075580;AC074008;AMYH01010436;NG_011134 RPSA_4_242 pseudo 35612 INFERRED 2305820 RPSAP29 ribosomal protein SA pseudogene 29 3 3 3 q13.13 108800546 108801567 - 111883734 111884772 - 110401063 110402084 - 19123937 389141 ABBA01061677;AC119737;AMYH01013389;NG_010100 RPSA_6_392 pseudo 36680 INFERRED 1352096 RPSAP3 ribosomal protein SA pseudogene 3 14 14 14 q24.3 57139720 57140766 - 76170705 76171936 - 77101043 77102088 - 19123937 158674 ABBA01030675;AC008050;AMYH01005867;NG_002489 LAMR1P3;RPSA_21_1392 laminin receptor 1 pseudogene 3 pseudo 19792 INFERRED 2305575 RPSAP30 ribosomal protein SA pseudogene 30 3 3 3 q29 195304324 195314168 - 198197881 198211691 - 196717463 196727294 - 19123937 728126 ABBA01033761;AC011322;AC068302;AMYH01013799;NG_010326 RPSA_7_452 pseudo 35861 INFERRED 2305813 RPSAP31 ribosomal protein SA pseudogene 31 3 3 3 q27.1 182048631 182049646 + 185088037 185088931 + 183605310 183606325 + 19123937 391598 ABBA01058468;AC068644;AMYH01013709;NG_010907 RPSA_11_442 pseudo 35558 INFERRED 2305111 RPSAP33 ribosomal protein SA pseudogene 33 3 3 3 q26.2 166782865 166783477 + 169867041 169867653 + 168384347 168384959 + 19123937 647158 ABBA01058721;AC112911;AMYH01013639;NG_011277 RPSA_10_433 pseudo 35556 INFERRED 2305404 RPSAP34 ribosomal protein SA pseudogene 34 4 4 q25 106623860 106624582 - 109328995 109329717 - 19123937 100270876 ABBA01063760;AC005510;AMYH01014453;NG_010142 RPSA_8_506 pseudo 36643 INFERRED 2305605 RPSAP36 ribosomal protein SA pseudogene 36 4 4 4 q31.21 141676058 141677065 + 144565356 144566610 + 144346129 144347136 + 19123937 100128888 ABBA01070001;AC104685;AMYH01014583;NG_010623 2169519 SHGC-59721 RPSA_14_525 pseudo 35727 INFERRED 2305313 RPSAP37 ribosomal protein SA pseudogene 37 5 5 q23.2 121259103 121259867 - 125302431 125303195 - 19123937 100270915 ABBA01068908;AC026723;AMYH01015599;NG_010356 RPSA_10_610 pseudo 35844 INFERRED 2305829 RPSAP38 ribosomal protein SA pseudogene 38 5 5 5 p13.1 41839709 41840283 - 41987172 41987746 - 41951415 41951989 - 19123937 100130676 ABBA01024237;AC010408;AMYH01015051;NG_010603 RPSA_9_557 pseudo 35963 INFERRED 2305641 RPSAP39 ribosomal protein SA pseudogene 39 4 4 4 q21.21 78375703 78376731 + 81301307 81302166 + 81082207 81083235 + 19123937 100131161 ABBA01063400;AC097711;AMYH01014344;NG_010466 RPSA_12_495 pseudo 37040 INFERRED 1344780 RPSAP4 ribosomal protein SA pseudogene 4 14 14 14 q32.13 75248653 75249686 + 94262202 94263431 + 95192549 95193582 + 19123937;15014966 145259 ABBA01030410;AL049839;AMYH01005970;NG_002486 LAMR1P4;RPSA_27_1403 laminin receptor 1 pseudogene 4 pseudo 20018 INFERRED 2305311 RPSAP40 ribosomal protein SA pseudogene 40 6 q25.1 148968760 148969807 - 19123937 100270917 ABBA01025696;AL807246;AMYH01016731;NG_010364 RPSA_13_766 pseudo 36828 INFERRED 2305310 RPSAP41 ribosomal protein SA pseudogene 41 6 6 q13 74394669 74395534 + 74000126 74000991 + 19123937 100270918 ABBA01040310;AC019205;AMYH01016425;NG_010368 1820570;1831840;1843228;1922858;1922860;1922862;1922864;1922866;1922868;1922870;1922872;1922874;1922876;1922878;2207124;2207126 ECD11360;ECD17058;ECD22822;REN32253;REN32254;REN32255;REN32256;REN32257;REN32258;REN32259;REN32260;REN32261;REN32262;REN32263;stSG625787;stSG625788 RPSA_17_711 pseudo 36663 INFERRED 2305312 RPSAP35 ribosomal protein SA pseudogene 35 4 4 q26 115626679 115627498 + 118334618 118335437 + 19123937 100270916 ABBA01063868;AC113617;AMYH01014482;NG_010360 1807778;1867934;1867936;1867938;1867940;1867942;1867944;1867946;1867948;1867950;1867952;1867954;1867956;1867958;1867960;2198264;2198266 ECD04863;REN4634;REN4635;REN4636;REN4637;REN4638;REN4639;REN4640;REN4641;REN4642;REN4643;REN4644;REN4645;REN4646;REN4647;stSG618181;stSG618182 RPSA_13_513 pseudo 36447 INFERRED 2305309 RPSAP42 ribosomal protein SA pseudogene 42 6 6 q23.3 139056531 139057408 + 138316407 138317284 + 19123937 100270919 ABBA01025815;AL591397;AMYH01016702;NG_010380 RPSA_18_761 pseudo 36265 INFERRED 2305658 RPSAP43 ribosomal protein SA pseudogene 43 6 6 6 q21 115146772 115147365 - 114512056 114512649 - 114405363 114405956 - 19123937 643954 ABBA01026061;AL355498;AMYH01016607;NG_010589 RPSA_12_742 pseudo 35501 INFERRED 2304496 RPSAP44 ribosomal protein SA pseudogene 44 6 6 6 p12.1 56151242 56152238 + 54595251 54598245 + 54489325 54490321 + 19123937 652411 ABBA01050515;AL136306;AMYH01016362;NG_010638 RPSA_16_706 pseudo 36891 INFERRED 2305348 RPSAP45 ribosomal protein SA pseudogene 45 6 6 6 q21 113418236 113419277 - 112783748 112784639 - 112676954 112677995 - 19123937 728562 ABBA01026077;AL365214;AMYH01016597;NG_011251 RPSA_11_739 pseudo 35857 INFERRED 2304389 RPSAP46 ribosomal protein SA pseudogene 46 7 7 7 q22.1 95856040 95857011 - 100633612 100636204 - 100846881 100847852 - 19123937 652624 ABBA01011343;AC004876;AMYH01017751;NG_010431 2109675;2165896 A002S06;PLOD3_8880 RPSA_14_827 pseudo 36082 INFERRED 2305630 RPSAP47 ribosomal protein SA pseudogene 47 Although this locus has an open reading frame that could produce a protein of the same or nearly the same size as that of the RPSA gene, there is no convincing evidence of transcription. It is thus being annotated as a pseudogene.[provided by RefSeq, Feb 2009] 8 8 8 q21.13 77475991 77477024 + 81633557 81634622 + 81471029 81472062 + 19123937;11181995;21507922;22493691 389672 ABBA01004061;AC009812;AC009871;AMYH01018828;CH471068;NG_010220 EAW87080;EAW87081 RPSA_19_921 APPROVED pseudo 36162 INFERRED 2305557 RPSAP48 ribosomal protein SA pseudogene 48 8 8 8 q23.2 107304911 107305798 - 111186481 111187369 - 111117305 111118193 - 19123937 392262 ABBA01037719;AC018608;AMYH01018961;NG_010379 RPSA_15_943 pseudo 36646 INFERRED 2305664 RPSAP49 ribosomal protein SA pseudogene 49 9 9 9 q22.1 61515526 61516555 + 90129138 90130075 + 90939296 90940325 + 19123937 401537 ABBA01016512;AL158076;AMYH01021489;NG_010669 RPSA_21_995 pseudo 35660 INFERRED 1348252 RPSAP5 ribosomal protein SA pseudogene 5 14 14 14 q32.32 83894493 83895530 - 102909957 102911182 - 103840300 103841329 - 19123937 319129 ABBA01048430;AL133367;AMYH01006046;NG_002507 LAMR1P5;RPSA_22_1412 laminin receptor 1 pseudogene 5 pseudo 20139 INFERRED 2305592 RPSAP50 ribosomal protein SA pseudogene 50 11 11 11 q22.3 107007377 107007990 + 109358334 109358947 + 109853124 109853737 + 19123937 644109 ABBA01039843;AMYH01004026;AP001981;NG_010040 RPSA_24_1172 pseudo 35896 INFERRED 2304903 RPSAP51 ribosomal protein SA pseudogene 51 12 12 12 p13.31 10432652 10433269 + 8895054 8895671 + 8895054 8895671 + 19123937 100271267 ABBA01012247;AC092490;AMYH01004241;NG_010852 RPSA_25_1205 pseudo 36224 INFERRED 2304869 RPSAP53 ribosomal protein SA pseudogene 53 13 13 13 q21.32 48742538 48743563 - 66738609 66739893 - 67840887 67841912 - 19123937 400141 ABBA01050288;AL603863;AMYH01005187;NG_010038 RPSA_19_1317 pseudo 36641 INFERRED 2304745 RPSAP54 ribosomal protein SA pseudogene 54 13 13 13 q12.11 2597303 2598337 + 21535373 21536407 + 21535373 21536407 + 19123937 642641 ABBA01068595;AL356285;AMYH01004952;NG_011364 RPSA_26_1300 pseudo 36373 INFERRED 2305911 RPSAP56 ribosomal protein SA pseudogene 56 16 16 16 q22.3 58287857 58288892 - 72532037 72532396 - 73974466 73975501 - 6480464 19123937 645656 ABBA01005305;AC092128;AMYH01007806;NG_011353 RPSA_23_1496 pseudo 36018 INFERRED 2304873 RPSAP55 ribosomal protein SA pseudogene 55 15 15 15 q21.3 30072816 30073839 + 50965084 50966031 + 53177716 53178739 + 21145461;19123937;23251661 388122 ABBA01039052;AC016044;AMYH01006653;NG_010133 RPSA_28_1433 pseudo 36921 INFERRED 2304505 RPSAP57 ribosomal protein SA pseudogene 57 18 18 18 q21.2 49129717 49130381 + 50562977 50563815 + 52411904 52412887 + 19123937 390857 ABBA01056104;AC007673;AC100776;AMYH01009014;NG_011042 RPSA_29_1604 pseudo 35889 INFERRED 2305044 RPSAP59 ribosomal protein SA pseudogene 59 X X q22.1-q22.3 102899948 102900838 - 102460937 102461827 - 19123937 100271148 ABBA01021022;AL035494;AMYH01022797;NG_010239 RPSA_27_1799 pseudo 36957 INFERRED 1349946 RPSAP6 ribosomal protein SA pseudogene 6 10 10 q22.2 69417181 69418218 + 76131211 76132244 + 19123937 414254 ABBA01020284;AC022026;AMYH01002835;NG_009794;NG_030484 LAMR1P6;RPSA_23_1065 pseudo 31458 INFERRED 2305043 RPSAP60 ribosomal protein SA pseudogene 60 X X q28 151459228 151460254 - 151213716 151214742 - 19123937 100271149 ABBA01037281;AF274856;AMYH01023229;NG_010242 RPSA_28_1820 pseudo 36331 INFERRED 2305474 RPSAP61 ribosomal protein SA pseudogene 61 X X X p11.3 48737049 48738078 + 44470981 44486258 + 44600251 44601280 + 19123937 644464 ABBA01046323;AL031311;AMYH01022241;NG_010579 RPSA_31_1776 pseudo 36760 INFERRED 2305530 RPSAP62 ribosomal protein SA pseudogene 62 X X X p11.22 57181461 57182152 + 53368949 53369640 + 53352224 53352915 + 19123937 100131469 ABBA01056405;AC245102;AL161779;AMYH01022423;NG_010739;NG_021296 1336131;1342115 AFM123xd4;DXS988 RPSA_32_1778 pseudo 35583 INFERRED 2305488 RPSAP63 ribosomal protein SA pseudogene 63 X X q26.2 133283538 133284571 + 132896747 132897780 + 19123937 100270755 ABBA01042366;AL009174;AMYH01022990;NG_009640 RPSA_33_1813 pseudo 35581 INFERRED 6481558 RPSAP64 ribosomal protein SA pseudogene 64 21 40266838 40267119 + 100873797 ABBA01011089;AMYH01012241;AP001043;NG_032334 pseudo 39642 INFERRED 2291765 RPSAP7 ribosomal protein SA pseudogene 7 10 10 10 p13 14693042 14694074 - 14765098 14766130 - 14765098 14766130 - 19123937 654506 ABBA01034607;AC069544;AMYH01002054;NG_007324 LAMR1P7;RPSA_16_1024 pseudo 31461 INFERRED 2292092 RPSAP8 ribosomal protein SA pseudogene 8 X X X q22.1 99931282 99932319 - 99297450 99298507 - 99410811 99411848 - 19123937 643617 ABBA01064203;AL359641;AMYH01022717;NG_007295 LAMR1P8;RPSA_26_1797 pseudo 31462 INFERRED 1347679 RPSAP9 ribosomal protein SA pseudogene 9 9 9 9 q21.13 49588241 49589680 + 78203347 78204774 + 79013515 79014954 + 19123937;16344560;21546767 653162 ABBA01033907;AL391868;AMYH01021424;DB348177;NR_026890 Hs.655646 1724593 RH121293 LAMR1P9;RPSA_20_986 pseudo ENSG00000234618 31463 VALIDATED 1348295 RPS7 ribosomal protein S7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 2 2 p25 3600728 3606384 + 3622853 3628509 + 6480464;7240710 8522193;11823430;18697920;15189156;12588972;8706699;15883184;19061985;17310983;16582619;15489334;14702039;12477932;10625621;9687515;9582194;8722009;8318536;21145461;21319273;21114473;16159877;18809582;22863883;20811636;22939629;16196087;21561866;19738201;19805454;21963094;21988832;22053931;22623428;23000965;23169665;23246001;18274552;18781797;19683495;20639865;21139048;21693764;21890473;21906983;21987572;23455922;22145905;17620599;22586326;20301769;23398456;23563151;19380743;21853274;22505724;22944692;6188845 6201 B5MCP9;P62081 AB209386;ABBA01006103;AC108488;AF085824;AK092027;AK311794;AMYH01010070;BC002866;BC061901;BC071919;BG615667;CH471053;M77233;NG_011744;NM_001011;X74803;Z25749 AAB00969;AAH02866;AAH61901;AAH71919;AAX82027;ABM83911;ABM87233;BAD92623;BAG34737;CAA81022;EAX01056;EAX01057;EAX01058;EAX01059;NP_001002;P62081 Hs.534346;Hs.546287;Hs.646582 1680210;1846618;2172269;2181644;5022200;5037552;5113122;5113480 D2S1288;D8S2279;L18426;RH45053;RH47144;RH69178;RH78818;RH93500 DBA8;S7 40S ribosomal protein S7;OTTHUMP00000115354;OTTHUMP00000200056;OTTHUMP00000200057;OTTHUMP00000200058 APPROVED protein-coding ENSG00000171863 10440 04712 603658;612563 REVIEWED 731589 RPS8 ribosomal protein S8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] 1 1 1 p34.1-p32 43524133 43527299 + 45013833 45016999 + 45241246 45244412 + 6480464 22939629;17220478;15189156;12588972;8706699;15883184;8432552;15635413;15489334;12477932;11790298;9582194;8764399;8722009;1712897;15616584;20308691;18172692;21145461;21319273;18029348;17207965;17289661;21371428;20462248;23077236;23084401;23184937;20811636;21182205;22863883;16196087;21252943;12777385;15303970;15840729;18274552;18457437;18781797;19596686;20639865;21081666;21890473;21906983;21963094;21987572;22178446;17361185;20473970;21628590;18259216;17620599;18214993;21853274;22053931;22505724;6188845 6202 P62241;Q5JR94;Q5JR95 AB062401;ABBA01050909;AF116700;AK311854;AL592166;AMYH01000567;BC005678;BC022070;BC070875;CH471059;NM_001012;X67247;Z58668;Z61049 AAF71120;AAH05678;AAH70875;ADQ31996;BAB93488;BAG34795;CAA47670;EAX07023;EAX07024;NP_001003;P62241 Hs.512675 1683110;2131892;2182395;7185033 D18S1237;D1S1544;SHGC-2466 S8 40S ribosomal protein S8;OK/SW-cl.83;OTTHUMP00000010160;OTTHUMP00000010161 APPROVED protein-coding ENSG00000142937 10441 15969 600357 REVIEWED 2305922 RPSAP52 ribosomal protein SA pseudogene 52 12 12 12 q14.3 65817416 65886360 - 64438301 64439044 - 66151800 66220754 - 6480464 19123937;12477932;2543954;20932310;20581827 204010 ABBA01026580;AC107308;AC135891;AMYH01004552;BC058822;BC107865;NR_026825 Hs.558686 2133524;2166251;5123321 D12S1491;D12S1504;D12S1515 MGC104447;RPSA_17_1251 pseudo ENSG00000241749 35752 VALIDATED 1601794 RPSAP58 ribosomal protein SA pseudogene 58 19 19 p12 23737656 23802777 + 23945816 24010937 + 19123937;12477932;21906983 388524 A6NE09;C9JQR9 ABBA01051444;ABBA01051445;ABBA01051446;AC139769;AMYH01009658;AMYH01009659;BC071971;CH471106;NR_003662 EAW84950;EAW84951;EAW84952 Hs.560655 1644521;1685151;5017164 D3S3955;G18061;RH68576 RPSA_30_1642 ribosomal protein SA pseudogene;similar to laminin receptor 1 pseudo ENSG00000205246 36809 14203 VALIDATED 734165 RPS9 ribosomal protein S9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008] 19 19 q13.4 59396538 59403327 + 54704726 54711515 + 1580863;6480464 17220478;15635413;15489334;14702039;12565890;12477932;11875025;11790298;11751223;11044901;9582194;8722009;8318536;17353931;18420587;15189156;12588972;8706699;15883184;7772601;20308691;21209461;17289661;17643375;19834535;21145461;21319273;20221446;21182205;22863883;21832049;22939629;15047060;19167051;21252943;12777385;18457437;18781797;19596686;21139048;21890473;21906983;21987572;22118674;22178446;17361185;21628590;19738201;21963094;21988832;22623428;23000965;23084401;23184937;23246001;23285058;23383273;23398456;22053931;22505724;6188845 6203 A8MXK4;B5MCT8;C9JM19;F2Z3C0;P46781 AB007150;AB055775;AB061839;ABBA01068172;AC012314;AK095055;AMYH01009976;BC000802;BC007410;BC007434;BC007857;BC020462;BC050660;BC058892;BC068055;BC071940;BC071941;BC096756;BC096822;BC141920;CH471135;CU151838;CU457734;NM_001013;U14971 AAA85659;AAH00802;AAH07410;AAH07434;AAH07857;AAH68055;AAH71940;AAH96756;AAI41921;ABM82126;ABM85309;BAA25816;BAB62869;BAB79477;EAW72209;EAW72210;EAW72211;EAW72212;EAW72213;EAW72214;EAW72215;NP_001004;P46781 Hs.467284;Hs.546288 1804440;1805238;1814684;1816120;1824642;1825670;1825904;1830842;1836918;1839530;1841194;1843914;1847313;2041758;2041760;2041762;2041764;2041766;2041768;2041770;2041772;2041774;2041776;2041778;2041780;2041782;2041784;2041786;2041788;2041790;2041792;2041794;2041796;2041798;2041800;2041802;2041804;2041806;2041808;2041810;2041812;2041814;2041816;2041818;2041820;2041822;2041824;2041826;2041828;2041830;2041832;2041834;2041836;2041838;2041840;2041842;2042078;2042080;2042082;2042084;2042086;2042088;2042090;2042094;2103690;2103692;2103694;2103696;2103698;2103700;2103702;2103758;5015879 ECD03144;ECD03563;ECD08372;ECD09100;ECD13419;ECD13943;ECD14060;ECD16557;ECD19623;ECD20947;ECD21792;ECD23168;GDB:314949;REN91916;REN91917;REN91918;REN91919;REN91920;REN91921;REN91922;REN91923;REN91924;REN91925;REN91926;REN91927;REN91928;REN91929;REN91930;REN91931;REN91932;REN91933;REN91934;REN91935;REN91936;REN91937;REN91938;REN91939;REN91940;REN91941;REN91942;REN91943;REN91944;REN91945;REN91946;REN91947;REN91948;REN91949;REN91950;REN91951;REN91952;REN91953;REN91954;REN91955;REN91956;REN91957;REN91958;REN92078;REN92079;REN92080;REN92081;REN92082;REN92083;REN92084;REN92086;RP_S9;stSG605868;stSG605869;stSG605870;stSG605871;stSG605872;stSG605873;stSG605874;stSG605908 S9 40S ribosomal protein S9;OTTHUMP00000069577;OTTHUMP00000069584;OTTHUMP00000069585;OTTHUMP00000194980;OTTHUMP00000197717;OTTHUMP00000197718;OTTHUMP00000197719;OTTHUMP00000206570 APPROVED protein-coding ENSG00000170889 10442 04696 603631 REVIEWED 1343031 RPUSD2 RNA pseudouridylate synthase domain containing 2 15 15 15 q13.3 17629431 17634555 + 38648829 38653953 + 40861537 40866661 + 737633;6480464 12477932 14702039;17474147;22863883;21832049 27079 B4DDD1;Q8IZ73 ABBA01038445;AC091045;AK055971;AK293145;AK301383;AK301706;AMYH01006563;BC007697;BC016967;CH471125;NM_152260;U67934 AAB07777;AAH07697;AAH16967;BAB71059;BAG56692;BAG62923;BAG63178;EAW92428;NP_689473;Q8IZ73 Hs.173311 2110289;2164848;2166069 A004W35;C150rf19_4479;D15S1189 C15orf19;C18B11;FLJ31409 C18B11 homolog (44.9kD);OTTHUMP00000160504;RNA pseudouridylate synthase domain-containing protein 2 protein-coding ENSG00000166133 24180 12668 PROVISIONAL 1344885 RPSA ribosomal protein SA Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p22.2 39422917 39429037 + 39448204 39454033 + 6480464 10079194;2970671;15189156;16130169;12588972;11752855;11720479;11067943;11054877;10683318;10477615;9732225;9582194;9218732;8985115;8760291;8586453;2970639;2543954;2429301;1534510;18276110;16169070;8706699;19224861;19182490;19123465;18794547;18787295;18425431;18269348;18079119;17535553;16973587;16889749;16759641;16431845;16236267;16189514;15922307;15635413;15592455;15516338;15489334;15246873;15158907;14730304;14702039;14614142;12875970;12477932;12440778;12386810;11790298;18172692;21145461;22666419;21055809;21081666;20515747;21167900;18061925;19446013;19691449;19961413;21040730;20101459;20491781;19561400;16263087;21056082;21243100;21182205;22863883;22939629;15047060;21391874;21838916;19471022;21110914;16263121;16344560;18816836;19738201;20085233;21890473;21963094;21988832;23000965;22053931;23151878;22623428;23246001;23348740;18624398;18781797;19596686;20849852;21693764;21906983;21942715;22586326;20301310;17361185;21044950;22290616;22640394;22751010;19188445;15492215;22909348;23106098;21895963;22174317;22505724;22814251;23579497 3921 C9J9K3;F8WD59;Q86VC0 AB007146;ABBA01024804;AC099332;AF503367;AJ572067;AK055991;AMYH01013099;BC005391;BC008867;BC010054;BC010418;BC013827;BC018867;BC034537;BC050688;BC053370;BC062714;BC066941;BC068062;BC070263;BC071693;BC071968;BC071969;BC071970;BC073863;BC107567;BT007219;BU932677;CH471055;J03799;M14199;NG_033234;NM_001012321;NM_002295;S37431;U36484;U43901;X15005;X61156 AAA36161;AAA36165;AAB22299;AAC50313;AAC50652;AAH05391;AAH08867;AAH10418;AAH13827;AAH34537;AAH50688;AAH53370;AAH62714;AAH66941;AAH68062;AAH70263;AAH71693;AAH71968;AAH71969;AAH71970;AAH73863;AAI07568;AAM33304;AAP35883;ABM82072;ABM85252;BAA25812;CAA33112;CAA43469;EAW64582;EAW64583;EAW64584;EAW64585;EAW64586;EAW64587;NP_001012321;NP_002286;P08865 Hs.449909 1688997;1721767;1731475;2090434;2090436;2157756;5017164;5491354;7184876;7185930;7204137;7204139 D11S813E;D3S3955;G59752;REN116494;REN116495;RH92628;RP_SA_1;UniSTS:148286 37LRP;67LR;LAMBR;LAMR1;LBP;LBP/p40;LRP;LRP/LR;NEM/1CHD4;SA;lamR;p40 37 kDa laminin receptor;37/67 kDa laminin receptor;40S ribosomal protein SA;67 kDa laminin receptor;67kD, ribosomal protein SA;LBP/p40;LRP/LR;NEM/1CHD4;OTTHUMP00000161970;OTTHUMP00000209609;OTTHUMP00000209610;colon carcinoma laminin-binding protein;lamR;laminin binding protein;laminin receptor 1 (67kD, ribosomal protein SA);laminin-binding protein precursor p40;multidrug resistance-associated protein MGr1-Ag APPROVED protein-coding ENSG00000168028 6502 01038 150370 REVIEWED 1351633 RPUSD3 RNA pseudouridylate synthase domain containing 3 3 3 3 p25.3 9814834 9821003 - 9854533 9860676 - 9879533 9885702 - 737633;6480464 12477932 14702039;17207965;16751776;20186120;21890473 285367 A8K773;C9JM75;H7C0K7;H7C0K9;H7C0R9;H7C1H7;H7C2C3;H7C454;Q6P087 ABBA01020398;AC018809;AK092026;AK093620;AK094587;AK291888;AK296202;AK299556;AMYH01012964;BC032135;BC049846;BC062362;BC065741;CH471055;NM_001142547;NM_173659 AAH32135;AAH62362;AAH65741;ADQ32221;BAC03794;BAF84577;BAG61501;BAH12281;EAW64006;EAW64007;EAW64008;EAW64009;NP_001136019;NP_775930;Q6P087 Hs.33719 1735198;2135505;5016478;5020881;5020885;5022450;5022578;5024039;5037552;5109625 D10S275;D16S325;D1S1423;D3S2844E;D3S2918E;D8S2279;GDB:434012;L17709;L17791;SHGC-30425 FLJ34707;FLJ37268;MGC29784 OTTHUMP00000158556;OTTHUMP00000207563;OTTHUMP00000207566;OTTHUMP00000207567;OTTHUMP00000207568;RNA pseudouridylate synthase domain-containing protein 3 protein-coding ENSG00000156990 28437 14532 VALIDATED 1605586 RPTN repetin 1 1 1 q21.3 125240750 125246385 - 150392695 150398328 - 152126071 152131704 - 6480464 15854042;14702039;12477932;19615732 126638 Q6XPR3;Q8N1M7 ABBA01049410;ABBA01049411;AK096436;AL589986;AMYH01001395;AY219924;AY396742;BC112216;BC112218;CH471121;NM_001122965 AAI12217;AAI12219;AAP48705;AAR91620;BAC04789;EAW53388;NP_001116437;Q6XPR3 Hs.376144 2220558 UniSTS:485324 FLJ39117 OTTHUMP00000205060;intermediate filament-associated protein;repetin protein-coding ENSG00000215853 26809 613259 VALIDATED 1344939 RPUSD1 RNA pseudouridylate synthase domain containing 1 16 16 16 p13.3 1034861 1038270 - 774975 778384 - 834974 838383 - 6480464 12477932;11157797;16341674;21906983 113000 H3BMZ6;H3BQN8;H3BRG3;H3BS55;H3BSG4;H3BU91;H3BUN6;H3BVD0;Q9UJJ7 ABBA01030345;AE006465;AL031033;AMYH01007007;BC011783;BC012951;BC036279;BG686882;BM763460;CB529100;CH471112;NM_058192 AAH11783;AAH12951;AAK61255;ABM83844;ABM87166;EAW85712;EAW85713;EAW85714;EAW85715;NP_478072;Q9UJJ7 Hs.101742 2138517 RH77995 C16orf40;MGC19600;RLUCL OTTHUMP00000045508;RNA pseudouridylate synthase domain-containing protein 1;ribosomal large subunit pseudouridine synthase C like;ribosomal large subunit pseudouridine synthase C-like protein protein-coding ENSG00000007376 14173 08507 VALIDATED 1350224 RRAGAP1 Ras-related GTP binding A pseudogene 1 14 14 25219016 25219511 - 45357761 45358256 - 12508121;12508121 100462776 ABBA01018043;AL049870;AMYH01005701;NG_027270 1707696 SHGC-82021 RRAGAP APPROVED pseudo 20242 INFERRED 1322982 RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe) This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012] 2 2 2 q35 213201461 213226753 + 219141922 219167243 + 219433678 219458999 + 1580863;6480464 18377426;9447985;18180299;12477932;12356739;20878056;15209511;17643375;19724902;22939629;20360068;21139048;21890473;19322201;16778766;19558367;23383273 9125 B5MDQ4;B7Z1E5;D5MQE1;F8WBZ6;F8WCV7;H7C0W0;Q92600 AA806815;AB500892;ABBA01023865;ABBA01023866;AC012510;AK293281;AK296037;AK316567;AMYH01011496;BC007102;BC137455;BC137456;CH471063;D87957;DC299874;NM_001271634;NM_001271635;NM_005444;NR_073390 AAH07102;AAI37456;AAI37457;BAA13508;BAG38156;BAG58803;BAH11481;BAJ07307;EAW70624;EAW70625;NP_001258563;NP_001258564;NP_005435;Q92600 Hs.148767 1681692;1698798;2131425;2143066;2143925 D2S2903;RH102962;RH45666;RH69436;RH93385 CNOT9;CT129;RCD-1;RCD1;RCD1+ CCR4-NOT transcription complex subunit 9;OTTHUMP00000206597;OTTHUMP00000206598;cancer/testis antigen 129;cell differentiation protein RCD1 homolog;protein involved in sexual development;rcd-1;rcd1 (required for cell differentiation, S.pombe) homolog 1 protein-coding 10445 08828 612054 REVIEWED 736416 RRAD Ras-related associated with diabetes 16 16 q22 65513089 65516920 - 66955582 66959439 - 1580863;2311703;2311705;2311702;2311701;2311704;6480464 16537411;10024077;17525370;18056528;15161552 8248782;17672918;17195088;16866878;16511212;15489334;15342556;12477932;11280768;10611312;10441394;9677319;9115241;8889549;8798502;8781531;8557685;7876254;7859947;20079427;10359610;20460530;22487779;22658652 6236 J3KRG9;J3KSM6;P55042 ABBA01025423;AC009084;AK290613;AMYH01007744;BC011645;BC057815;BP257026;CH471092;L24564;N93445;NM_001128850;NM_004165;U46165 AAA36540;AAB17064;AAH11645;AAH57815;ABM82877;ABM86063;BAF83302;EAW83053;EAW83054;EAW83055;NP_001122322;NP_004156;P55042 Hs.1027 1684349;1687890;1729798;2219656 D16S324;RH80345;RH80791;RRAD__5528 RAD;RAD1;REM3 GTP-binding protein RAD;OTTHUMP00000174805;RAS (RAD and GEM) like GTP binding 3;ras associated with diabetes protein-coding ENSG00000166592 10446 01536 179503 VALIDATED 1345355 RPUSD4 RNA pseudouridylate synthase domain containing 4 11 11 11 q24.2 123237291 123246895 - 125577519 125586751 - 126071989 126081587 - 6480464 14702039;12477932;20445134;20877624;16344560;17577209;8125298;8889548;22939629 84881 E9PJV3;Q96CM3 ABBA01031229;AK027400;AK225320;AK300723;AK308059;AMYH01004111;AP001893;BC014131;BE260782;BU679173;CH471065;DB051034;DB542764;NM_001144827;NM_032795 AAH14131;BAB55086;BAG62396;EAW67675;EAW67676;NP_001138299;NP_116184;Q96CM3 Hs.150458 1298323;1662722;1672288;2121225;5123792;7186273 D11S2236E;D11S934;EST189193;RH48157;SHGC-33429 FLJ14494 OTTHUMP00000231045;OTTHUMP00000231046;RNA pseudouridylate synthase domain-containing protein 4 protein-coding ENSG00000165526 25898 07862 VALIDATED 1603019 RPTOR regulatory associated protein of MTOR, complex 1 This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 q25.3 76133220 76554768 + 78518625 78940173 + 1625616;2308795;2307383;6480464;6484113;6907045 16885148;19339977;17110594 21981924;22544753;15755954;15809305;19388141;19139211;18722121;18497260;18439900;17656678;17329400;17081983;16964243;16959881;16914728;16354680;16183647;15489334;15302935;15066126;14702039;12718876;12604610;12477932;12150926;12150925;10718198;16631613;16962653;16286006;16837165;15854902;17043309;16919458;16847060;16798736;16603397;15467718;15459249;15268862;12747827;12719976;12665511;16824195;15767663;12912989;15718470;21325048;18776922;20427287;20562859;20439490;12408816;17386266;19145465;19211835;19561084;19724909;19864431;19921495;20354165;20379614;21071439;20169205;21060808;17502379;19875983;21177249;23297343;17461779;21613227;21460630;21816923;22328503;18235224;21283628;21321085;21454807;22258093;21045808;21139048;21890473;21900751;21903422;21906983;22493283;22356909;17565979;18337751;18505677;19446321;19619545;21339740;21471201;21963094;22424946;23049088;23184942;23563607;22797925 57521 F5GXV9;F5H7J5;I3L2I3;I3L436;Q6DKI0;Q8N122 AB037724;AB082951;ABBA01032115;ABBA01032116;ABBA01032117;ABBA01032118;ABBA01032119;ABBA01032120;ABBA01032121;ABBA01032122;AC016245;AC109327;AC127496;AC133012;AI821182;AK055912;AK295964;AK296321;AMYH01008699;AMYH01008700;AMYH01008701;AY090663;BC014502;BC025180;BC033258;BC033699;BC041079;BC064515;BC073898;BC136652;BC136654;BF111734;CH471099;GQ183898;NG_013034;NM_001163034;NM_020761 AAH25180;AAH33258;AAH64515;AAH73898;AAI36653;AAI36655;AAM09075;ACS44766;BAA92541;BAC06490;BAG58742;BAH12314;EAW89618;EAW89619;NP_001156506;NP_065812;Q8N122 Hs.133044 1734518;1758235;1783504;1783550;1798074;2119413;2135894;2169335;5093082;5094752 A005R46;A009F31;AAT095;D17S1457E;G32509;RAPTOR_2116;RH65537;SHGC-145979;SHGC-147765;SHGC-154405 KIAA1303;KOG1;Mip1 p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats;raptor;regulatory-associated protein of mTOR APPROVED protein-coding ENSG00000141564 30287 06184 607130 REVIEWED 1349440 RRAGA Ras-related GTP binding A 9 9 9 p22.1 18975567 18977218 + 19039372 19041023 + 19049372 19051023 + 633888;2308795;6480464;6484113 7499430;19339977 14660641;8995684;11073942;9394008;18029348;15489334;15164053;12477932;18685082;21981924;16189514;21816923;19136632;14749727;18497260 10670 Q7L523 ABBA01065222;AK313023;AL356000;AMYH01019269;BC006433;BC009990;BX346838;BX442654;CH471071;NM_006570;U41654;X90529 AAB63255;AAH06433;AAH09990;BAG35858;CAA62131;EAW58653;NP_006561;Q7L523 Hs.743260 2142445;2172736;2172738 A001X42;D9S1030E;G19763 FIP-1;FIP1;RAGA OTTHUMP00000021099;adenovirus E3 14.7 kDa-interacting protein 1;adenovirus E3-14.7K interacting protein 1;rag A;ras-related GTP-binding protein A protein-coding ENSG00000155876 16963 10205 612194 VALIDATED 1343212 RRAGB Ras-related GTP binding B Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] X X X p11.21 59582631 59623721 + 55760904 55801932 + 55744110 55785207 + 633888;2308795;6480464;6484113 7499430;19339977 11073942;18029348;9394008;16344560;15772651;15489334;12766061;12477932;21832049;22863883;21139048;21890473;21981924;22749528;18497260 10325 Q5VZM0;Q5VZM2 ABBA01069495;ABBA01069496;ABBA01069497;ABBA01069498;ABBA01069499;AK289407;AL139277;AL159987;AL831926;AMYH01022450;BC034726;BX641797;CD676755;CH471154;DB246060;DB252202;NM_006064;NM_016656;X90530 AAH34726;ACE86507;ACE87188;BAF82096;CAA62132;CAD38586;EAW93227;EAW93228;EAW93229;NP_006055;NP_057740;Q5VZM2 Hs.50282 1683960;2185162 DXS7036E;RH91912 RAGB;bA465E19.1 GTP-binding protein ragB;OTTHUMP00000023402;OTTHUMP00000023403;rag B;ras-related GTP-binding protein B APPROVED protein-coding ENSG00000083750 19901 06710 300725 VALIDATED 1323384 RRAGC Ras-related GTP binding C This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 1 p34 37583632 37603970 - 39077592 39097927 - 39305005 39325340 - 2308795;6480464;6484113 19339977 11073942;14660641;16710414;15489334;14702039;12477932;11145883;16189514;21816923;21139048;21981924;16713569;16712791;17914555;18497260 64121 B4DQ03;B4DQG4;Q9HB90 ABBA01023239;ABBA01023240;AF272035;AF323609;AK023373;AK298573;AK298788;AK315791;AL139260;AMYH01000512;AW327252;BC016668;BG717489;BI461665;BQ003663;CA449149;CB132041;CH471059;CX761032;ES308561;HY202961;HY264464;NM_001271851;NM_022157 AAG32662;AAG45221;AAH16668;ABM82660;ABM85837;BAB14548;BAG60765;BAG60926;EAX07293;EAX07294;NP_001258780;NP_071440;Q9HB90 Hs.532461 1657031;1672458;1680679;1730131;1768529;1854781;2133875 D1S261E;G29137;RH50026;RH80711;SGC38299;SHGC-74629;SHGC-74630 FLJ13311;GTR2;RAGC;TIB929 GTPase-interacting protein 2;OTTHUMP00000000548;Rag C protein;TIB929;ras-related GTP-binding protein C APPROVED protein-coding 19902 12198 608267 REVIEWED 1322078 RREB1 ras responsive element binding protein 1 The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] 6 6 p25 7053263 7196194 + 7107830 7252213 + 1580863;6480464 9305772;8816445;18394891;15342556;15302935;15067362;14702039;12700765;12700664;12482979;12477932;10390538;9367691;21833088;20884846;19558368;19802870;19890057;20379614;20385826;16140033;21159816;17967884;21703425;17550981;17000644;21613827;21792086;22581228;22589738;21693764;21890473;19471022;22751122;23752268;21258344;23247143;23263486;22427155 6239 C9JE09;C9JPJ6;C9JU34;Q86SU2 AB019254;AB019351;AB019352;ABBA01022038;ABBA01022039;AF072825;AF072826;AK022160;AK022442;AL139095;AL355336;AL589644;AMYH01016061;AMYH01016062;AW505424;BC032062;BC042910;BC111386;BC131599;BI818966;BP365591;BX647723;CH471087;D49835;HM369360;HM369361;NG_016201;NM_001003698;NM_001003699;NM_001003700;NM_001168344;U26914 AAB19094;AAC25598;AAC26118;AAH42910;AAI31600;AAI72432;ADO14468;ADO14469;BAA23165;BAD32776;BAD32778;BAD32779;EAW55198;EAW55199;EAW55200;NP_001003698;NP_001003699;NP_001003700;NP_001161816;Q92766 Hs.298248 1647439;1662670;1690031;1709170;1723309;1753409;1770000;1772671;1849459;2122697;2128684;2137749;2139926;2219658;5014051;5022578;5118576 D11S3430;D1S1423;D8S2278;G09345;RH118470;RH18374;RH36382;RH45575;RH45965;RH46451;RH70160;RH92849;RREB1__5529;SHGC-107226;SHGC-52573;SHGC-85747;STS-N62538 FINB;HNT;LZ321;RREB-1;Zep-1 DNA-binding protein;OTTHUMP00000015997;OTTHUMP00000213899;OTTHUMP00000213900;OTTHUMP00000213901;OTTHUMP00000213909;finger protein in nuclear bodies;hindsight homolog;raf-responsive zinc finger protein LZ321;ras-responsive element-binding protein 1;zinc finger motif enhancer binding protein 1;zinc finger motif enhancer-binding protein 1;zinc finger motif-enhancer binding-protein 1 APPROVED protein-coding ENSG00000124782 10449 03733 602209 REVIEWED 1320660 RRAGD Ras-related GTP binding D RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004] 6 6 6 q15-q16 90492855 90540521 - 90134313 90178497 - 90074335 90121995 - 1580863;2308795;6480464;6484113 19339977 14660641;11073942;15900300;15489334;14702039;14574404;12477932;20379614;21890473;18497260 58528 Q9NQL2 ABBA01040530;AF272036;AJ420486;AK126164;AK289799;AL137502;AL138717;AL523999;AMYH01016502;BC003088;CH471051;DB472739;NM_021244 AAG32663;AAH03088;ADZ15704;BAF82488;CAB70775;EAW48554;NP_067067;Q9NQL2 Hs.31712 1644918;1647484;1647906;1671420;1730016;1776419;1779608;1849123;2157236;2160087 AFM185xd10;D6S2099;D6S247;G27951;RH15841;RH17546;RH46740;SHGC-153580;SHGC-32424;WI-15526 DKFZp761H171;FLJ44176;RAGD;bA11D8.2.1 OTTHUMP00000016853;OTTHUMP00000016854;Rag D protein;ras-related GTP-binding protein D APPROVED protein-coding ENSG00000025039 19903 12199 608268 VALIDATED 1322910 RRAS related RAS viral (r-ras) oncogene homolog 19 19 q13.3-qter 54830364 54835212 - 50138552 50143400 - 1580863;6480464;6484113;6907045 3098437;17474147;19116136;19011236;17664272;17107957;16914723;16754664;16537651;15525681;15489334;15297673;15242332;15031288;12890755;12548599;12529399;12477932;12386818;11857081;11560935;11042683;10848612;10777492;10713701;10671570;10570155;10412982;10224125;8232588;7809086;7761092;12620389;21660952;21390152;16773572;17163575;19805522;19843518;20385769;20585650;21674799;18624398;21139048;21906983;21987572;22897853 6237 P10301 ABBA01032914;AC011495;AF493920;AMYH01009915;BC016286;BC016318;BT006805;CH471177;CR541944;CR541967;M14949;NM_006270 AAA60256;AAH16286;AAH16318;AAM12634;AAP35451;ABM81656;ABM83354;ABM86568;CAG46742;CAG46765;EAW52506;EAW52507;NP_006261;P10301 Hs.515536 1741677;1789472;2161262 G31122;G68143;GDB:181916 Oncogene RRAS;p23;ras-related protein R-Ras protein-coding ENSG00000126458 10447 01299 165090 PROVISIONAL 1321899 RRAS2 related RAS viral (r-ras) oncogene homolog 2 This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 11 11 p15.2 14256042 14337305 - 14299466 14386052 - 6480464;6907045 10557073;10777492;12620389;19047159;18628988;17656362;17081983;15761153;15489334;15342556;15308774;15031288;12477932;12384139;11857081;11850823;11788587;11335720;10498616;10224125;10064593;8052619;2108320;10783161;16169070;21319273;15451670;19561613;19692568;20811707;21085126;20360068;21781067;21139048;19060904;21988832;23000965;23398456;23535033 22800 B7Z5Z2;E9PK85;E9PQ87;E9PQC5;E9PQK5;P62070 AA873016;ABBA01061108;ABBA01061109;ABBA01061110;ABBA01061111;AC011084;AF493924;AK299606;AK300103;AK302033;AK309550;AK309683;AK313976;AMYH01003400;AMYH01003401;BC013106;BG428983;BP206021;BP206589;BQ020351;BQ023701;BX324335;CB961515;CH471064;DC368033;M31468;NG_017058;NM_001102669;NM_001177314;NM_001177315;NM_012250 AAA36545;AAH13106;AAM12638;BAG36690;BAH13078;BAH13210;BAH13612;EAW68486;EAW68487;NP_001096139;NP_001170785;NP_001170786;NP_036382;P62070 Hs.502004;Hs.712835 1678779;1775871;5113996 D11S1068;RH40056;RH80353 TC21 OTTHUMP00000230870;OTTHUMP00000230871;OTTHUMP00000230872;OTTHUMP00000230873;OTTHUMP00000230874;OTTHUMP00000230875;OTTHUMP00000230876;ras-like protein TC21;ras-related protein R-Ras2;teratocarcinoma oncogene APPROVED protein-coding ENSG00000133818 17271 02518 600098 REVIEWED 1344712 RRM2P1 ribonucleotide reductase M2 polypeptide pseudogene 1 6243 10453 1346940 RRM2P2 ribonucleotide reductase M2 polypeptide pseudogene 2 1 1 q23.3 134413721 134416290 - 161346591 161349160 - 3311968 6244 ABBA01016590;AL592295;AMYH01001457;NG_012978 pseudo 10454 INFERRED 1346765 RRM2P3 ribonucleotide reductase M2 polypeptide pseudogene 3 X X X p11.4 48308024 48309546 + 44053304 44054866 + 44168563 44169722 - 3311968 100420159 ABBA01046387;AL133344;AMYH01022240;NG_021391;NG_026678 1770855;2109783 DXS8197;RRM2_8603 pseudo 10455 INFERRED 1349541 RRM2P4 ribonucleotide reductase M2 polypeptide pseudogene 4 X X X q27 143713511 143714076 - 143219843 143220608 + 143392258 143392823 + 3311968 6246 ABBA01016574;AC234064;AL049588;AMYH01023148;NG_000871 pseudo 10456 INFERRED 1319017 RRH retinal pigment epithelium-derived rhodopsin homolog Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. [provided by RefSeq, Jul 2008] 4 4 4 q25 108042720 108059581 + 110968599 110985312 + 110749150 110765863 + 1580863;6480464 9275222;17167409;15761153;12542842;11329013;12477932;18240029;20332099 10692 O14718 ABBA01063785;AC126283;AF012270;AMYH01014458;BC128120;BC128121;BC128401;BG189259;BK000958;CH471057;NM_006583 AAC51757;AAI28121;AAI28122;AAI28402;DAA00976;EAX06255;NP_006574;O14718 Hs.658310 OTTHUMP00000162923;peropsin;visual pigment-like receptor peropsin APPROVED protein-coding ENSG00000180245 10450 05565 605224 REVIEWED 1315209 RRBP1 ribosome binding protein 1 This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012] 20 20 p12 17542323 17610928 - 17594323 17662928 - 1580863;6480464;6907045 9628588;19425502;19037105;18083570;17634287;17081983;21628590;16964243;15489334;15302935;15231748;15184079;14702039;12477932;12168954;11780052;10718198;8812507;2165568;17353931;18029348;21145461;20647306;19932094;21111237;22679391;22939629;16196087;19596686;20360068;21906983;22108332 6238 A2A2S5;F8W7S5;Q9H476 AB037819;AB287347;ABBA01054025;ABBA01054026;ABBA01054027;AF006751;AF007575;AK093465;AK098319;AK309197;AL132765;AL833822;AMYH01011737;AMYH01011738;BC000099;BC009700;BC020482;BC080526;BC108741;BC128577;BC128578;CH471133;NM_001042576;NM_004587 AAC25977;AAC25978;AAH00099;AAH09700;AAI08742;AAI28578;AAI28579;BAA92636;BAF73807;BAG52723;CAD38684;EAX10273;NP_001036041;NP_004578;Q9P2E9 Hs.472213 2169840;2178656;5092756;5127121 A005W17;A005Z23;G18116;G32309 DKFZp586A1420;ES/130;ES130;FLJ36146;MGC157720;MGC157721;RRp;hES 180 kDa ribosome receptor homolog;ES/130-related protein;OTTHUMP00000030333;OTTHUMP00000162761;RRp;ribosome binding protein 1 homolog 180kDa (dog);ribosome receptor protein;ribosome-binding protein 1 APPROVED protein-coding ENSG00000125844 10448 11796 601418 REVIEWED 2795592 RRN3P2 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2 16 16 16 p11.2 16149630 16181621 + 28993816 29035540 + 29086163 29128039 + 15489334;15616553;8125298 653390 A6NIE6 ABBA01045672;ABBA01045673;ABBA01045674;ABBA01045675;ABBA01045676;AC009093;AK225670;AK298442;AK301253;AMYH01007487;AMYH01007488;DC420905;NR_003369 A6NIE6;BAG60661;BAG62820 Hs.720348 5112319 RH103343 pseudo ENSG00000103472 37619 VALIDATED 1625094 RRN3P1 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 16 16 p12.2 21720619 21752347 - 21807951 21830495 - 6480464 15146197;12477932;9110174;8619474 730092 Q2M238 ABBA01005462;ABBA01005463;ABBA01143956;AC092375;AF001549;AF054994;AK126166;AK291749;AK309501;AL702574;AMYH01007355;BC006441;BC009198;BC068999;BC070157;BC112115;BC112117;BC143685;BX101439;CN397262;NR_003370 AAC27822;BAF84438;BAG54291;Q2M238 Hs.31290;Hs.348979 2167774;5112209 RH102369;RH65913 FLJ77916;FLJ99542;MGC138320;MGC138322 APPROVED pseudo 30548 14301 VALIDATED 737409 RRM1 ribonucleotide reductase M1 This gene encodes one of two non-identical subunits that constitute ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region. [provided by RefSeq, Jul 2008] 11 11 p15.5 4072500 4116682 + 4115924 4160106 + 1580863;2316863;5133692;6480464;6907045 15224347;15725396 7557993;3891388;3275546;3044582;1840662;1677928;1627826;16169070;17602053;17486094;17131328;17065054;17064812;16966686;16481328;16476973;16376858;15489334;15342556;15324660;15277258;15172981;14729598;14702039;14583450;12789263;12687015;12615712;12578384;12477932;11781084;10441745;9933563;8386696;8188248;8125298;11517226;19552012;19304340;19002265;18636187;18494946;18483375;18414411;22632967;21145461;21319273;20587610;20627363;20021860;20811706;20819778;19543324;20028759;20043067;20159953;20226083;20453000;20211060;21370501;21336276;22863883;21220199;21264835;21394302;20868593;22939629;21628579;21424698;18781797;21139048;21642870;21890473;21906983;21963094;21987572;20467918;22134350;21382349;23000965;23401439;23086647;22705007;23519412;22053931;22505724;23155271 6240 E9PD78;E9PJ62;E9PL69;E9PP77;E9PRY9;F5H861;H0YCY7;P23921 ABBA01032035;ABBA01032036;ABBA01032037;ABBA01032038;ABBA01032039;ABBA01032040;AC015689;AF107045;AF391285;AK222786;AK297988;AK299629;AK301891;AK301922;AK303394;AK307950;AK311593;AMYH01003348;AMYH01003349;AMYH01003350;BC006498;BP229960;BQ775841;CH471158;L10342;NG_027992;NM_001033;X59543;X59617;X65708 AAD37491;AAH06498;ABM83954;ABM87271;BAD96506;BAG60296;BAG61557;BAG63322;BAG63343;BAG64450;CAA42118;CAA42180;EAX02583;NP_001024;P23921 Hs.445705 1651175;1687944;1742541;2119309;2190923;5021222 GDB:197861;MARC_11583-11584:1002656974:1;RH35854;RH80019;RRMI;STS-X59617 R1;RIR1;RR1 OTTHUMP00000164513;OTTHUMP00000229275;ribonucleoside-diphosphate reductase large subunit;ribonucleoside-diphosphate reductase subunit M1;ribonucleotide reductase M1 polypeptide;ribonucleotide reductase large subunit;ribonucleotide reductase m1;ribonucleotide reductase, R1 subunit;ribonucleotide reductase, large subunit APPROVED protein-coding ENSG00000167325 10451 01588 180410 REVIEWED 2800575 RRN3P3 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 16 16 16 p12.2 21210751 21217573 - 22340226 22354149 - 22430867 22449036 - 6480464 12477932;14702039;21906983 100131998 ABBA01003839;ABBA01003840;AC092338;AC106788;AK055742;AMYH01007348;BC037959;NR_027460 Hs.709576 1703702;2167638;5112319 RH103343;SHGC-64110;SHGC-78863 pseudo 37620 PROVISIONAL 1603041 RRNAD1 ribosomal RNA adenine dimethylase domain containing 1 1 1 1 q23.1 129769065 129777984 + 154964902 154973365 + 156698263 156706752 + 6480464 12477932;10810093;310876;19204726;19322201 51093 E5RHI7;E5RI42;E5RIL6;E5RJL6;H0YBL9;Q4VX71;Q96FB5 ABBA01016647;ABBA01016648;ABBA01016649;AF151800;AK000412;AL590666;AMYH01001438;BC011382;BX094595;CH471121;NM_001142560;NM_015997 AAD34037;AAH11382;EAW52915;EAW52916;EAW52917;EAW52918;NP_001136032;NP_057081;Q96FB5 Hs.512597 1681175;1688604 RH64929;RH72 C1orf66;CGI-41 OTTHUMP00000038735;OTTHUMP00000071089;hypothetical protein LOC51093;protein RRNAD1;ribosomal RNA adenine dimethylase domain-containing protein 1 APPROVED protein-coding ENSG00000143303 24273 10824 VALIDATED 1314438 RRM2B ribonucleotide reductase M2 B (TP53 inducible) This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 8 8 q23.1 103285907 103320522 - 103216729 103251346 - 1580863;6480464;6907045;7240710 21646632;19667227;19138848;19082948;18760875;18505925;18504129;18474260;17671702;17486094;16872707;16846634;16778101;16407418;16376858;16236544;16127747;15489334;14729598;14702039;14583450;12565178;12477932;11719458;11517226;10980602;10716435;19015526;15856024;12615712;22847445;20484015;18029348;20819778;19664747;19728742;22902076;21297166;22895183;21640705;21965764;21216934;20159953;21451941;21139048;21378381;21906983;21963094;23139867;22954457;22884950 50484 B4E2N4;E5RG52;H0YAV1;Q9NTD8 AB036063;AB036532;AB163437;AB163438;AB166669;AB166670;AB166671;ABBA01037602;AK001965;AK023605;AK304354;AL137348;AMYH01018935;AP001328;AP002907;BC042468;BC042948;BC108261;BC117496;BC130628;BX509409;CH471060;CR627376;DC308409;DQ027001;NG_016617;NM_001172477;NM_001172478;NM_015713 AAH42468;AAI08262;AAI17497;AAI30629;AAY29059;ACE86549;ACE87230;ADR82944;BAA92005;BAA92434;BAA92493;BAD11774;BAD11775;BAD12265;BAD12266;BAD12267;BAG65196;CAB70703;CAH10473;EAW91840;EAW91841;EAW91842;NP_001165948;NP_001165949;NP_056528;Q7LG56 Hs.512592 DKFZp686M05248;MGC102856;MGC42116;MTDPS8A;MTDPS8B;p53R2 OTTHUMP00000227449;OTTHUMP00000227450;OTTHUMP00000227522;TP53-inducible ribonucleotide reductase M2 B;p53-inducible ribonucleotide reductase small subunit 2 homolog;p53-inducible ribonucleotide reductase small subunit 2 short form beta;p53-inducible ribonucleotide reductase small subunit 2-like protein;ribonucleoside-diphosphate reductase subunit M2 B APPROVED protein-coding ENSG00000048392 17296 05276 604712;612075;613077 REVIEWED 736125 RRM2 ribonucleotide reductase M2 This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009] 2 2 p25-p24 10180184 10188074 + 10262695 10271546 + 1580863;2324950;2324953;5133688;5133696;6480464;6907045 19568409;15942940;21139803;21556566 17222798;1627826;11517226;19250552;19082948;19002265;18941749;18414411;18278438;17486094;16964243;16376858;15815621;15489334;15096505;14729598;14702039;14661056;14583450;12694192;12655059;12615712;12477932;11978970;11978967;11781084;10631117;9990288;7937751;3311968;21166702;20484015;20587610;16344560;19416980;19639316;20056645;20155784;20927319;20825972;21873171;22939629;21628579;21965764;21844567;21875941;20159953;23002339;23519412;21139048;21890473;21906983;21963094;22166006;19322201;22632967;22884145;22670179;18820369;23335963;22190034;22505724;22797925;22569992 6241 C9JXC1;P31350 ABBA01015604;ABBA01015605;AC104794;AC118058;AF149206;AK092671;AK123010;AK313719;AMYH01010100;AY032750;BC001886;BC028932;BC030154;BM994533;DA477511;NM_001034;NM_001165931;S40301;X59618 AAA09577;AAD53261;AAH01886;AAH28932;AAH30154;AAK51163;AAX93099;ABM82789;ABM85978;BAG36462;BAG52588;BAG53847;CAA42181;NP_001025;NP_001159403;P31350 Hs.226390 1648346;1770855;2109783;2138583;2143205;2182374;5020948;5037552;5037554 D2S2640;D8S2279;D8S2282;DXS8197;G35510;NIB797;RH48834;RH70847;RRM2_8603 R2;RR2;RR2M OTTHUMP00000115511;OTTHUMP00000214026;OTTHUMP00000220215;ribonucleoside-diphosphate reductase subunit M2;ribonucleotide reductase M2 polypeptide;ribonucleotide reductase m2;ribonucleotide reductase small chain;ribonucleotide reductase small subunit APPROVED protein-coding ENSG00000171848 10452 01587 180390 REVIEWED 1347637 RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 16 16 p12 15061380 15095659 - 15153879 15188158 - 6480464;6484113 12393749;12646563;18559419;18047649;15489334;15004009;12620228;12477932;11265758;11250903;10758157;8889548;8125298;15558034;19322201;19615732;19214185;21940764;22939629;21906983;18029348;21963094;23393135;22797925 54700 B4E0J7;B4E3T2;F5H148;H3BMT1;Q3MHU9;Q9NYV6 ABBA01012610;AC139256;AF227156;AJ272050;AK225662;AK295486;AK300253;AK302994;AK303405;AK304856;AK314769;AK316520;AL110238;AMYH01007182;BC036182;BC071868;BC104660;BC132688;BC132690;BU676519;CH471301;NM_018427 AAF66160;AAH71868;AAI04661;AAI32689;AAI32691;ADR83091;BAG37307;BAG58409;BAG62018;BAG64131;BAG64459;BAG65594;BAH14891;CAC07955;EAW54754;NP_060897;Q9NYV6 Hs.460078 5112319 RH103343 A-270G1.2;DKFZp566E104;MGC104238;TIFIA OTTHUMP00000160284;RNA polymerase I-specific transcription initiation factor RRN3;TIF-IA;rrn3 rna polymerase i transcription factor homolog (yeast);transcription initiation factor IA;transcription initiation factor TIF-IA protein-coding ENSG00000085721 30346 12004 605121 VALIDATED 1343951 RRP12 ribosomal RNA processing 12 homolog (S. cerevisiae) 10 10 10 q24.1 92854620 92899285 - 99106448 99151055 - 99116458 99161127 - 737633;6480464 12477932 21145461;17353931;17081983;16964243;16565220;15635413;15489334;15302935;15164054;14702039;12429849;12421765;11790298;9734811;16385451;20379614;21182205;22939629;20360068;21987572;22178446;19471022;21139048;21906983;21628590;22586326 23223 B3KMR5;F5H456;Q5JTH9 AB014590;ABBA01021804;ABBA01021805;ABBA01021806;ABBA01021807;AK000238;AK021460;AK022496;AK056614;AK131283;AK296315;AL355490;AL832924;AMYH01002976;BC002621;BC012745;BC042908;CH471066;NM_001145114;NM_015179 AAH02621;AAH12745;BAA31665;BAG51077;BAG51764;BAG54759;BAG59012;CAH10606;EAW49946;EAW49947;EAW49948;NP_001138586;NP_055994;Q5JTH9 Hs.434251 1764937;5024761 RH36905;SHGC-148492 DKFZp762P1116;FLJ20231;KIAA0690 OTTHUMP00000020207;OTTHUMP00000020208;RRP12-like protein protein-coding ENSG00000052749 29100 11103 VALIDATED 1605116 RRP1 ribosomal RNA processing 1 The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30315012 30329580 + 44033846 44048411 + 45209418 45223983 + 6480464 16780588;9192856;16344560;15489334;12477932;12429849;12209604;11790298;10830953;10341208;8125298;18029348;19204726;22990118;22586326;21536856;21139048;21906983;21963094;22751105;23398456 8568 D6RE82;P56182 ABBA01074138;ABBA01074139;ABBA01074140;ABBA01074141;AI634547;AK223185;AK223215;AK303000;AK313116;AL137757;AMYH01012282;AP001053;AP001752;AY033999;BC000380;BC014787;BG829556;BI223794;CH471079;DA275615;NM_003683;U79775 AAC51625;AAH00380;AAH14787;AAK57542;ABM82317;ABM85493;BAA95542;BAD96905;BAD96935;BAG64135;CAB70909;EAX09470;EAX09471;EAX09472;NP_003674;P56182 Hs.110757 1659148;1762533;2119124;5037552 D8S2279;SHGC-146344;SHGC-53211;SHGC-87679 D21S2056E;NNP-1;NOP52;RRP1A Nnp1 homolog, nucleolar protein;OTTHUMP00000109463;RRP1-like protein;novel nuclear protein 1;nucleolar protein Nop52;protein NNP-1;ribosomal RNA processing 1 homolog;ribosomal RNA processing protein 1 homolog A APPROVED protein-coding 18785 10857 610653 REVIEWED 2302835 RRP7B ribosomal RNA processing 7 homolog B (S. cerevisiae) 22 22 22 q13.2 26879735 26888504 - 41299194 41307961 - 42969250 42978017 - 6480464 16303743;14702039;12477932 91695 Q9NSQ0 ABBA01017933;AK074492;AK098201;AL157851;AMYH01012821;BC007736;BC014647;BC053540;BC143340;NR_002184;Z93241 BAG51960;CAB75937;Q9NSQ0 Hs.534041 1658905;1667147;1680240;1682750;1689099;1701746;2130459;2138816;2152048;2219688;5037552 D22S1560;D22S965E;D8S2279;G19963;RH10763;RH28567;SERHL__5382;STS-T78900;WI-13406;WI-14068;WIAF-2172 dJ222E13.2 pseudo ENSG00000182841 30454 PROVISIONAL 1317478 RRP36 ribosomal RNA processing 36 homolog (S. cerevisiae) RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010] 6 6 6 p21.1 44541626 44549579 + 43097363 43105315 + 42989385 42997337 + 6480464 12477932;17081983;15983380;15635413;15489334;14574404;20038530;21890473 88745 Q96EU6 ABBA01050697;AF161371;AK313816;AL136304;AMYH01016311;BC006293;BC011933;CH471081;NM_033112 AAF28931;AAH06293;AAH11933;BAG36552;EAX04143;NP_149103;Q96EU6 Hs.309231 1690250;1852527 RH35864;RH48428 C6orf153;dJ20C7.4 OTTHUMP00000016415;RNA processing factor;ribosomal RNA processing protein 36 homolog APPROVED protein-coding ENSG00000124541 21374 12859 613475 PROVISIONAL 1606298 RRP15 ribosomal RNA processing 15 homolog (S. cerevisiae) This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq, Jul 2008] 1 1 1 q41 191675091 191727786 + 216525252 216577948 + 218458629 218511325 + 6480464 21145461;17353931;15769876;15489334;15302935;12477932;11790298;10810093;9455484;18029348;19615732;23142642;21832049;19471022;21693764;21890473;21906983;21628590 51018 Q9Y3B9 AB007976;ABBA01048105;ABBA01048106;AC096638;AC099337;AF151873;AK290066;AMYH01001736;AW029169;BC003668;BC020641;BF242786;CH471100;NM_016052 AAD34110;AAH03668;AAH20641;BAF82755;EAW93329;NP_057136;Q9Y3B9 Hs.660109 1699306;1707966;1760089;1856585;5015619;5015879;5022200 D11S3114;GDB:314949;L18426;RH103239;SHGC-107734;SHGC-57308;SHGC-84647 CGI-115;KIAA0507;MGC22291 OTTHUMP00000037485;RRP15-like protein;ribosomal RNA-processing protein 15 APPROVED protein-coding ENSG00000067533 24255 10822 611193 REVIEWED 1347162 RS1 retinoschisin 1 This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008] X X p22.13 18567729 18600150 - 18657808 18690223 - 1600147;1600148;1580863;6480464;7240710 9326935;9618178 10915776;19393523;19390641;18982040;18834580;18728755;18369700;17987333;17852193;17804407;17631851;17615541;17515881;17296904;17295148;17286855;17172462;17093404;17031297;16768192;15772651;15644328;15531314;15281981;14986011;12967815;12920343;12782284;12746437;12457918;12417531;12383832;12107411;12055472;11983912;10533068;10450864;10234514;10220153;10079181;9760195;8889548;2032721;22171610;19324861;19474399;19849666;20151283;22292953;20569020;20809529;20806044;20801516;21196491;21701876;21738583;22039241;22110067;23288992;22245991;22183371;20301401 6247 O15537;Q0QD39 ABBA01071664;ABBA01071665;ABBA01071666;ABBA01071667;ABBA01071668;AF014459;AF018963;AL049684;AMYH01022122;BQ185379;BQ636812;CH471074;DQ426892;NG_008659;NM_000330;Z92542;Z94056 AAC17928;AAC18405;AAI40344;AAI41639;ABD90543;EAW98942;NP_000321;O15537 Hs.715725 1701834;1733426;1938142;2117966;2141924 DXS6760;DXS7176;REN39908;RH11240;SHGC-32426 RS;XLRS1 OTTHUMP00000023004;X-linked juvenile retinoschisis protein;retinoschisin;retinoschisis (X-linked, juvenile) 1 APPROVED protein-coding ENSG00000102104 10457 02426 300839;312700 REVIEWED 1607047 RRP7A ribosomal RNA processing 7 homolog A (S. cerevisiae) 22 22 q13.2 41238514 41245752 - 42904341 42915829 - 6480464;6907045 18029348;16565220;15489334;14702039;12477932;12087473;11790298;10810093;10591208;15342556;22586326;22939629;21900206;21906983 27341 F8WAT7;Q8N5Q3 ABBA01055681;ABBA01055682;AK092492;AK314650;AL022316;AMYH01012817;AMYH01012818;AMYH01012819;AY039240;BC031838;BC035992;BC041639;BC042335;BC063537;BC064560;BC073834;BC121118;BC121119;BP314581;CH471138;NM_015703 AAH31838;AAH41639;AAH42335;AAH63537;AAH73834;AAI21119;AAI21120;AAK68659;BAG37211;EAW73254;NP_056518;Q9Y3A4 Hs.360940 1648115;1667147;2152048;2158413;2219688;5015404;5015861;5020740;5022578;5037552;7185938 A008L30;D10S16;D1S1423;D8S2279;L17705;L17809;SERHL__5382;STS-T78900;WI-14068;WI-14105 BK126B4.3;CGI-96;MGC150422;MGC150423 CTA-126B4.5;OTTHUMP00000198666;gastric cancer antigen Zg14;ribosomal RNA-processing protein 7 homolog A protein-coding 24286 13043 VALIDATED 1345303 RSAD2 radical S-adenosyl methionine domain containing 2 2 2 p25.2 6935247 6955814 + 7017796 7038363 + 737633;1580863;6480464 12477932 9391139;16108059;16982913;19074433;18768981;18077728;18005724;17626075;16849320;15890971;11752458;21527675;19920176;20026307;20176015;22377585;20534863;20628624;23160199;23509962;21053045;22045669;22182524;21957124;22363738;22734835;22896602;23018837;22647704 91543 C9J674;F5GXF3;Q8WXG1 ABBA01023896;AC017076;AF026942;AF442151;AK300085;AK312670;AMYH01010087;BC017969;CH471053;NM_080657 AAH17969;AAL50053;AAY14802;ABM82903;ABM86094;BAG35552;BAG61888;EAX01034;EAX01035;NP_542388;Q8WXG1 Hs.17518 1649097;1768125;2185793;2218898;5015861;5037552;7185938 D10S16;D8S2279;RH70478;SHGC-34967;SHGC-64330;cig5__4576 2510004L01Rik;cig33;cig5;vig1 OTTHUMP00000115410;cytomegalovirus-induced gene 5 protein;radical S-adenosyl methionine domain-containing protein 2;viperin;virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible protein-coding ENSG00000134321 30908 07423 607810 VALIDATED 1347932 RSAD1 radical S-adenosyl methionine domain containing 1 17 17 17 q21.33 45017483 45024633 + 45911189 45918335 + 48556190 48563336 + 737633;6480464 12477932 14702039;20877624;8125298 55316 B4DMW0;H0Y934;H0Y9X4;K7EKD3;Q9HA92 ABBA01041240;AC021491;AK002026;AK022105;AK024628;AK222472;AK293814;AK297655;AMYH01008473;BC005854;BC050538;CH471109;NM_018346 AAH05854;AAH50538;BAA92043;BAB13962;BAD96192;BAG57220;BAG60022;EAW94610;NP_060816;Q9HA92 Hs.8033 1736640;2140849;2144526 A002O08;D17S1479E;SHGC-31935 FLJ11164;FLJ20975 OTTHUMP00000221342;oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1;radical S-adenosyl methionine domain-containing protein 1, mitochondrial protein-coding ENSG00000136444 25634 07737 PROVISIONAL 6767468 RSBN1L-AS1 RSBN1L antisense RNA 1 7 77313168 77326662 - 100505854 ABBA01058014;ABBA01058015;ABBA01058016;AC004955;AC090421;AF290475;AMYH01017631;NR_038361 Hs.72451 1697122;1735676;2115756 D7S2136E;RH102045;SHGC-56104 APPROVED miscrna 44173 VALIDATED 1313777 RRP1B ribosomal RNA processing 1B 21 21 21 q22.3 30185262 30221795 + 43903860 43940388 + 45079432 45115960 + 1580863;6480464 15231747;16780588;18081427;17081983;16964243;16565220;15635413;15489334;14702039;12477932;12429849;11790298;21145461;8724849;10637318;18029348;19710015;19825179;20040599;20379614;20926688;15174051;22113938;23080069;23455922;23537643;21182205;19389623;19596686;22178446;19471022;21139048;21890473;21906983;21907836;19322201;22552340;22586326 23076 Q14684;Q6PJM8 ABBA01074131;ABBA01074132;AK056263;AK124620;AMYH01012279;AP001050;AP001051;AP001052;BC014005;BC028386;BE544027;BX479134;CH471079;D80001;NM_015056 AAH14005;AAH28386;BAA11496;EAX09480;EAX09481;EAX09482;EAX09483;NP_055871;Q14684 Hs.565725 1645287;1645925;1657094;1670227;1686482;1707098;1852105;1857782;2118323;2135683;2137990 D21S1871;D21S1875;D21S1995;G34564;G34629;RH25394;SHGC-51780;SHGC-51981;SHGC-52104;SHGC-7009;SHGC-81310 KIAA0179;NNP1L;Nnp1;RRP1 OTTHUMP00000109457;RRP1-like protein B;ribosomal RNA processing 1 homolog B;ribosomal RNA processing protein 1 homolog B APPROVED protein-coding ENSG00000160208 23818 10009 610654 VALIDATED 1347428 RSBN1 round spermatid basic protein 1 1 1 1 p13.2 112533676 112584291 - 114105977 114156593 - 114304454 114355070 - 737633;6480464 12477932 19565500;18305142;14724137;14702039;8889549;20379614;18781797;21890473;22493691;19322201;23251661 54665 H0YDA9;Q5VWQ0 AA682921;ABBA01068458;AK002082;AK022166;AK292552;AL050064;AL137856;AL365321;AMYH01000963;BC026155;BQ062524;BX478083;CH471122;CR627402;N66761;NM_018364 AAH26155;BAA92075;BAB13974;BAF85241;CAH10493;EAW56570;EAW56571;EAW56572;NP_060834;Q5VWQ0 Hs.486285 1652627;1676752;1770368;1770370;2190951 A005Z42;G20635;MARC_12059-12060:1004549049:1;RH117;SHGC-75352 DKFZp781E21150;ROSBIN;RP11-324J2.1 OTTHUMP00000013723;round spermatid basic protein 1 protein-coding ENSG00000081019 25642 08561 VALIDATED 6481021 RSF1-IT1 RSF1 intronic transcript 1 (non-protein coding) 100874308 AP002343 miscrna 41439 6481024 RSF1-IT2 RSF1 intronic transcript 2 (non-protein coding) 100874307 AP000609 miscrna 41438 1351057 RSBN1L round spermatid basic protein 1-like 7 7 7 q11.23 72026342 72109715 + 77163696 77246944 + 77325743 77409120 + 737633;6480464 12477932 16344560;15146197;12690205;20383146;20811636;22939629;21890473;23000965;23251661 222194 C9JM20;H7C2D3;Q6PCB5 ABBA01058016;ABBA01058017;ABBA01058018;ABBA01058019;AC004955;AK124517;AK127713;AMYH01017631;BC046193;BC046353;BC059402;CH236949;CH471091;CN311934;DA097202;NM_198467 AAH46353;AAH59402;BAC85872;BAC87096;EAL24197;EAW77033;NP_940869;Q6PCB5 Hs.592289;Hs.72451 1335197;1664972;1670309;1773225;2136759;2141816;2149566;2179862;7183807 D7S1536;D7S2455;GDB:1317504;GDB:1317988;GDB:1317996;RH48974;SHGC-37054;SHGC-58208 FLJ42526;FLJ45813;MGC71764 OTTHUMP00000208147;OTTHUMP00000208235;round spermatid basic protein 1-like protein protein-coding ENSG00000187257 24765 15278 VALIDATED 1603685 RRP8 ribosomal RNA processing 8, methyltransferase, homolog (yeast) 11 11 11 p15.4 6740219 6743878 - 6577728 6581387 - 6621144 6624880 - 6480464 18485871;17081983;16964243;16565220;15489334;12477932;12429849;11790298;9455477;19615732;19819226;18029348;22586326;21628590 23378 E9PPP6;E9PPY3;E9PS87;O43159 AB007869;ABBA01028670;AC009796;AC091564;AMYH01003367;BC001071;BX417992;CH471064;D87060;NG_029702;NM_015324;R51624 AAH01071;ADZ15736;BAA23705;BAB46916;EAW68691;NP_056139;O43159 Hs.652255 1649027;1721723;1770928;1771151;1847581;2138503;5037552 A007B37;D8S2279;G59726;RH47197;WI-11689;WI-12713;WI-15843 KIAA0409 OTTHUMP00000229985;RRP8 methyltransferase homolog;cerebral protein 1;nucleomethylin;ribosomal RNA-processing protein 8 protein-coding 29030 13800 VALIDATED 1349878 RSC1A1 regulatory solute carrier protein, family 1, member 1 1 1 1 p36.1 14469243 14471096 + 15858951 15860804 + 15986364 15988217 + 1580863;6480464 8836035;2675563;17686765;16788147;16788146;14724758;14702039;11018680;18029348;20800603;21139048;21890473;21906983 6248 Q92681 ABBA01004702;AK314753;AL121992;AMYH01000274;CH471167;CS436830;CS436838;NM_006511;X82877 AAI52938;BAG37292;CAA58058;CAL64679;CAL64683;EAW51744;NP_006502;Q92681 Hs.239459;Hs.709169 2159577 SHGC-74259 RS1 OTTHUMP00000071185;hRS1;regulatory solute carrier protein family 1 member 1;transporter regulator RS1 protein-coding ENSG00000215695 10458 15994 601966 PROVISIONAL 1349992 RSL24D1P1 ribosomal L24 domain containing 1 pseudogene 1 6 6 6 p22.1 29354525 29354953 - 27856378 27856869 - 27748462 27748890 - 100129755 ABBA01038011;AL009179;AMYH01016189;NG_009885 RPL24p;RPL30BP;RSL24D1P;dJ97D16.2 APPROVED pseudo 13979 INFERRED 2974689 RSL24D1P10 ribosomal L24 domain containing 1 pseudogene 10 5 5 5 q23.1 116961280 116961779 - 121034967 121035466 - 121007068 121007567 - 100130699 ABBA01068965;AC106806;AMYH01015581;NG_022991 pseudo 37875 INFERRED 3419586 RSL24D1P11 ribosomal L24 domain containing 1 pseudogene 11 18 18 18 q21.31 52223319 52223882 + 53656706 53657269 + 55505708 55506271 + 18951430 284288 ABBA01056141;AC022724;AMYH01009025;NG_028175 ribosomal L24 domain containing 1 pseudogene 11 pseudo 37881 INFERRED 3340247 RSL24D1P2 ribosomal L24 domain containing 1 pseudogene 2 2 2 2 p15 62624884 62633327 - 62633619 62642062 - 62780115 62788558 - 100129162 ABBA01075390;AC092155;AMYH01010392;CH471053;NG_023155 EAW99974 pseudo 37867 INFERRED 1322847 RRS1 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 8 8 8 q13.1 63332964 63334669 + 67503817 67505522 + 67341263 67342968 + 1580863;6480464 21145461;19465021;16189514;15635413;15489334;12477932;12429849;11790298;10688653;7788527;22939629;22178446;21693764;21628590;22586326;22944692 23212 Q15050 ABBA01041871;AC009879;AK024716;AMYH01018773;BC001811;BC013043;CH471068;D25218;NM_015169 AAH01811;AAH13043;ABM83698;ABW03546;BAA04948;EAW86900;NP_055984;Q15050 Hs.71827 1649188;1667819;1681030;2109785;2140168 D8S1606;G27361;RH17390;RH25337;RRS1_9320 KIAA0112 OTTHUMP00000227420;homolog of yeast ribosome biogenesis regulator;homolog of yeast ribosome biogenesis regulatory protein RRS1;ribosome biogenesis regulatory protein RRS1 homolog;ribosome biogenesis regulatory protein homolog protein-coding ENSG00000179041 17083 15277 VALIDATED 2947004 RSL24D1P3 ribosomal L24 domain containing 1 pseudogene 3 7 7 7 q11.21 58641518 58642349 + 64437522 64438353 - 64800087 64800918 - 6480464 100130721 ABBA01008765;AC092685;AMYH01017456;NG_023002 pseudo 37883 INFERRED 3160485 RSL24D1P5 ribosomal L24 domain containing 1 pseudogene 5 12 12 12 q14.2 63117499 63117989 - 61735322 61735812 - 63449055 63449545 - 100129941 ABBA01026625;AC078814;AMYH01004539;NG_022995 pseudo 37870 INFERRED 2975370 RSL24D1P4 ribosomal L24 domain containing 1 pseudogene 4 1 1 q43 240834507 241003069 + 242935870 242938607 + 23251661 391183 ABBA01022806;AC118471;AMYH01001880;NG_028107 1707034;1711204;1758573;2172384 AL009439;SHGC-148798;SHGC-81027;SHGC-85357 RSL24D1P19 pseudo 37884 VALIDATED 3051027 RSL24D1P8 ribosomal L24 domain containing 1 pseudogene 8 19 19 12101626 12102111 + 12207239 12207724 + 100462809 ABBA01029809;AC022415;AMYH01009489;NG_021758 pseudo 37873 INFERRED 3184210 RSL24D1P7 ribosomal L24 domain containing 1 pseudogene 7 8 8 8 p23.2 4834571 4904900 - 4847457 4917799 - 4928811 4930446 - 19896111 100129861 ABBA01007072;AC019176;AC105998;AMYH01018289;NG_028195 pseudo 37877 INFERRED 1317332 RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012] 3 3 3 p21.2 51946271 51954747 - 51942486 51950962 - 51967446 51975922 - 6480464 12477932;9418896;19333934;17081983;15761153;15635413;15489334;12429849;12381732;12032086;11790298;10982864;15574333;22939629;18029348;21505065;18624398;20360068;22178446;21139048;21890473;21906983;22586326 9136 O43818 AA465355;ABBA01024518;AC115284;AJ001340;AK313696;AMYH01013180;BC001113;BC009879;BC010048;BC021032;BC023662;CH471055;NM_004704 AAH01113;AAH09879;AAH10048;AAH23662;ABM86728;ABW03815;BAG36443;CAA04687;EAW65159;NP_004695;O43818 Hs.153768 2153538;5023487 IB2040;SHGC-77016 RNU3IP2;U3-55K OTTHUMP00000211033;RRP9 homolog;RRP9, small subunit (SSU) processome component, homolog;RRP9, small subunit (SSU) processome component, homolog (yeast);U3 small nucleolar RNA-interacting protein 2;U3 small nucleolar ribonucleoprotein-associated 55 kDa protein;U3 snoRNP-associated 55 kDa protein;U3 snoRNP-associated 55-kDa protein protein-coding ENSG00000114767 16829 08827 REVIEWED 3378364 RSL24D1P9 ribosomal L24 domain containing 1 pseudogene 9 18 18 18 q21.2 45995049 46011989 - 47392927 47409868 - 49138929 49155870 - 100128991 ABBA01018692;AC011260;AMYH01009002;NG_023017 2163072 G19289 pseudo 37880 INFERRED 1603381 RSG1 REM2 and RAB-like small GTPase 1 1 1 1 p36.13 15038074 15043551 - 16430782 16436033 - 16558182 16563659 - 6480464 16189514;12477932;17207965;19767740;15342556;22001757 79363 H0Y6L8;Q9BU20 ABBA01004678;AI744915;AL109627;AL559024;AMYH01000280;BC002946;BC008702;BP214716;CH471167;NM_030907 AAH02946;AAH08702;ADQ31905;EAW51773;NP_112169;Q9BU20 Hs.546430 1847230 SHGC-57061 C1orf89;MGC10731;RP4-733M16.4 OTTHUMP00000002233;OTTHUMP00000035995;REM2- and Rab-like small GTPase 1;Rem/Rab-Similar GTPase 1;miro domain-containing protein C1orf89 APPROVED protein-coding ENSG00000132881 28127 14399 VALIDATED 1322691 RSPH3 radial spoke 3 homolog (Chlamydomonas) 6 6 6 q25.3 160046571 160069312 - 159318254 159341186 - 159398266 159421198 - 737633;6480464 12477932 15225872;14702039;19684019;21832049;21906983 83861 Q86UC2 ABBA01021073;AF353618;AK057655;AK057931;AL035530;AMYH01016795;BC011590;BC035675;BC050604;CH471051;NM_031924 AAH50604;AAK26432;BAB71544;BAB71615;EAW47641;EAW47642;EAW47643;NP_114130;Q86UC2 Hs.154628 2130576 RH37580 RSHL2;RSP3;dJ111C20.1 OTTHUMP00000017517;OTTHUMP00000017518;radial spoke head 3 homolog;radial spoke head 3 homolog (Chlamydomonas);radial spoke head protein 3 homolog;radial spoke head-like protein 2;radial spoke protein 3;radial spokehead-like 2 protein-coding ENSG00000130363 21054 15279 VALIDATED 1605260 RSPH10B radial spoke head 10 homolog B (Chlamydomonas) 7 7 p22.1 5932303 5976840 - 5965777 6010314 - 6480464 16507594;14702039;12477932 222967 B2RC85;F5GZE0;P0C881 ABBA01011061;ABBA01146600;ABBA01154663;ABBA01203421;AC004983;AC005995;AMYH01017015;AMYH01017016;AMYH01017017;AMYH01017018;AMYH01017019;AMYH01017020;AMYH01017021;AMYH01017022;AMYH01017023;AMYH01017024;AMYH01017025;AMYH01017026;BC034495;BC157864;BC157871;NM_173565 AAH34495;AAI57865;AAI57872;B2RC85;NP_775836;P0C881 Hs.442339 1651967;1661887;1684942;1698298;1698734;1712086;1712114;1847957;2147970;2147972;2165689 A005Y46;D7S1451;D7S2083E;G20608;G54092;G54106;GDB:1318541;RH102686;RH102928;RH80485;SHGC-31701 MGC50833;RSPH10B2 OTTHUMP00000201304;OTTHUMP00000201305;radial spoke head 10 homolog B;radial spoke head 10 homolog B2 protein-coding ENSG00000155026 27362 11249 VALIDATED 1322599 RSF1 remodeling and spacing factor 1 This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011] 11 11 q14.1 77054922 77209528 - 77377274 77531880 - 1580863;6480464 12972596;11788598;11944984;9836642;19475691;19190325;18519663;18314909;18289639;17081983;16964243;16418735;16172393;15489334;15242768;15009096;14702039;12477932;7815490;21131837;20923775;20228782;22977663;21514451;22528946;21995635;21252943;19471022;21139048;21693764;21890473;21906983;22081787;22266860;22586326;21098080;22387541;19377461;20467438;21963094;22113938;23000965;23378270;21145461;22569540;22685262 51773 H0YCN2;H0YDG9;H0YER1;H0YEX0;H7C306;Q05DG0;Q96T23 ABBA01017420;ABBA01017421;ABBA01017422;ABBA01017423;ABBA01017424;AF059317;AF227948;AF380176;AK001268;AL602953;AMYH01003825;AP000580;AP000609;AP002343;BC000774;BC015360;BC046124;BC046347;CH471076;NM_016578 AAF61709;AAG43114;AAH15360;AAH46124;AAI48327;AAI53211;AAK57515;BAA91591;EAW75033;EAW75034;EAW75035;NP_057662;Q96T23 Hs.420229 1339180;1667987;1678141;1730209;1738197;1774537;1782494;1795966;2161110;2182721;2190535;5124373;7183805;7184674 D11S1117;D11S3829;D11S4014;D11S4558;D11S911;D11S948E;EST19G6;HBXAP_1276;RH44708;RH93405;SHGC-172594;STS-AA034409 HBXAP;RSF-1;XAP8;p325 HBV pX associated protein-8;HBV pX-associated protein 8;OTTHUMP00000197352;OTTHUMP00000233995;hepatitis B virus x-associated protein;p325 subunit of RSF chromatin-remodeling complex;remodeling and spacing factor 1 APPROVED protein-coding ENSG00000048649 18118 10537 608522 VALIDATED 2300131 RSPH10B2 radial spoke head 10 homolog B2 (Chlamydomonas) 7 7 p22.1 6760265 6804921 + 6793740 6838396 + 14702039;12477932;21832049 728194 B2RC85;C9JJN2;H0YFY2 AC073343;AC079882;AK093411;AK294481;AK314983;AMYH01017045;AMYH01017046;AMYH01017047;AMYH01017048;AMYH01017049;AMYH01017050;AMYH01017051;AMYH01017052;AMYH01017053;AMYH01017054;BC044242;NM_001099697 AAH44242;B2RC85;BAG37482;BAG52711;BAH11784;NP_001093167;P0C881 Hs.710326 1651967;1661887;1684942;1698298;1698734;1712086;1712114;1847957;2147970;2147972;2165689 A005Y46;D7S1451;D7S2083E;G20608;G54092;G54106;GDB:1318541;RH102686;RH102928;RH80485;SHGC-31701 FLJ36092;FLJ54347;FLJ95901;RSPH10B OTTHUMP00000200676;OTTHUMP00000200679;radial spoke head 10 homolog B;radial spoke head 10 homolog B-like;radial spoke head 10 homolog B2 protein-coding ENSG00000169402 34385 PROVISIONAL 1350657 RSL1D1 ribosomal L1 domain containing 1 16 16 16 p13.13 12102372 12119761 - 11835554 11852943 - 11928053 11945442 - 6480464 17353931;17158916;18678645;17081983;16964243;16565220;16083285;15880258;15635413;15489334;15334068;15302935;12963728;12477932;12429849;11790298;9859858;21145461;19710015;21182205;22939629;19471022;21139048;21890473;21907836;18457437;18781797;20360068;22178446;21628590;22586326 26156 B4DJ58;I3L1A3;I3L1Y4;I3L234;I3L2F2;I3L3C4;I3L3U9;I3L4T8;J3KPU7;J3QSV6;O76021 ABBA01006834;AC010654;AF074987;AF083127;AJ007398;AK000822;AK025446;AK295935;AL049999;AMYH01007161;AY154473;AY598331;BC009802;BC016362;BC017899;BC019069;BC070325;BC107782;BC112228;BC113699;BI856275;CH471112;NM_015659 AAF98239;AAH16362;AAH17899;AAH19069;AAI07783;AAI12229;AAI13700;AAN46298;AAT06742;ADR83016;ADR83180;BAG58720;CAA07491;CAB43231;EAW85133;EAW85134;EAW85135;NP_056474;O76021 Hs.401842 1686925 RH80148 CSIG;DKFZP564M182;L12;MGC138433;MGC142259;PBK1;UTP30 CATX-11;OTTHUMP00000160258;OTTHUMP00000160259;cellular senescence inhibited gene protein;cellular senescence-inhibited gene protein;ribosomal L1 domain-containing protein 1 protein-coding ENSG00000171490 24534 10897 VALIDATED 1320309 RSL24D1 ribosomal L24 domain containing 1 This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012] 15 15 15 q21 32362100 32377819 - 53260804 53276523 - 55473512 55489231 - 6480464 18562305;16189514;15635413;15489334;15231747;14702039;12808088;12477932;12429849;11707418;21145461;17207965;20237496;21507922;19322201;21139048;21890473;21048991 51187 H3BMQ2;H3BPF2;Q9UHA3 AB462502;ABBA01039035;AC011912;AF060926;AF165521;AF201949;AF212226;AK055713;AK315431;AMYH01006665;BC005344;BC008409;BC008422;BC008449;BC008499;BC009593;BC009604;BC012913;BC014576;BC016312;BC016331;BC016725;BC016777;BC026266;BC026267;BC028672;BC035995;BC093067;CH471082;CR457179;NM_016304 AAF17241;AAF86651;AAG43138;AAH08409;AAH08422;AAH08449;AAH08499;AAH09593;AAH09604;AAH12913;AAH14576;AAH16312;AAH16331;AAH16725;AAH16777;AAH26266;AAH26267;AAH28672;AAH35995;AAH93067;AAK26249;ADQ32560;BAG37819;BAG51559;CAG33460;EAW77473;EAW77474;EAW77475;NP_057388;Q9UHA3 Hs.274772 1653240;2119537;2148078 Cda17g12;RH47547;RH78444 C15orf15;HRP-L30-iso;L30;RLP24;RPL24;RPL24L;TVAS3 60S ribosomal protein L30 isolog;OTTHUMP00000162794;homolog of yeast ribosomal like protein 24;my024 protein;probable ribosome biogenesis protein RLP24;ribosomal L24 domain-containing protein 1;ribosomal protein L24-like APPROVED protein-coding 18479 12665 613262 REVIEWED 1317061 RSPH1 radial spoke head 1 homolog (Chlamydomonas) 21 21 21 q22.3 29041548 29065352 - 42765665 42789470 - 43892596 43916401 - 1580863;6480464 16780588;17451891;15489334;14702039;12477932;9578619;9403069 89765 A8MWV0;Q8WYR4 AB006536;AB041016;ABBA01004542;AK057315;AK314746;AMYH01012267;AP001624;AP001625;BC101519;BC113367;CH471079;NM_080860 AAI01520;AAI13368;ADR82898;BAB83694;BAB92995;BAG37286;EAX09556;EAX09557;EAX09558;NP_543136;Q8WYR4 Hs.661069 1731273;2177706 D21S49;SHGC-30133 MGC126568;MGC141927;RSP44;RSPH10A;TSA2;TSGA2 CT79;OTTHUMP00000109364;OTTHUMP00000109365;cancer/testis antigen 79;h-meichroacidin;male meiotic metaphase chromosome-associated acidic protein;meichroacidin;radial spoke head 1 homolog;testes specific A2 homolog;testes specific a2 homolog (mouse);testes specific gene A2 homolog;testis specific A2 homolog;testis-specific gene A2 protein protein-coding ENSG00000160188 12371 11651 609314 VALIDATED 1344766 RSPO4 R-spondin 4 This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] 20 20 p13 887095 930904 - 939095 982907 - 6480464;7240710 16357527;15144186;14702039;11780052;8889548;18070203;17914448;17805348;17041604;17186469;17596144;18779895;22300369;23234511 343637 Q2I0M5 ABBA01053762;ABBA01053763;AK122609;AL050325;AMYH01011662;BQ185331;CH471133;DQ355152;NG_013043;NM_001029871;NM_001040007 AAI56853;ABC75877;EAX10652;EAX10653;NP_001025042;NP_001035096;Q2I0M5 Hs.444980 1676786;1751883;2178585 RH92167;SHGC-105814;WI-16682 C20orf182;CRISTIN4;FLJ16018;dJ824F16.3 OTTHUMP00000029946;OTTHUMP00000180593;R-spondin family, member 4;R-spondin-4;chromosome 20 open reading frame 182;hRspo4;roof plate-specific spondin-4 APPROVED protein-coding ENSG00000101282 16175 206800;610573 REVIEWED 1348763 RSPH4A radial spoke head 4 homolog A (Chlamydomonas) This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 6 6 6 q22.1 117680709 117697215 + 117044343 117060834 + 116937642 116954148 + 6480464;7240710 19200523;14702039;12477932;8889548;18029348;22448264;20301301 345895 B3KTA9;Q5TD94 ABBA01026045;AK095293;AK299754;AL132795;AMYH01016617;BC022879;BC106949;CB851663;CH471051;NG_012934;NM_001010892;NM_001161664 AAI06950;BAG53021;BAG61643;EAW48219;EAW48220;NP_001010892;NP_001155136;Q5TD94 Hs.160380;Hs.625134 CILD11;FLJ37974;MGC126303;RSHL3;RSPH6B;dJ412I7.1 OTTHUMP00000017070;OTTHUMP00000017071;radial spoke head protein 4 homolog A;radial spoke head-like protein 3;radial spokehead-like 3 APPROVED protein-coding ENSG00000111834 21558 18005 612647;612649 REVIEWED 1344817 RSPH6A radial spoke head 6 homolog A (Chlamydomonas) The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008] 19 19 19 q13.3 43104019 43123641 - 50990808 51010417 - 46298968 46318605 - 6480464 16381901;11076863;11256614;15489336;14702039;12477932;11237735;11230166;8125298;16344560;16751776;21658281 81492 M0R103;M0R2K1;Q9H0K4 ABBA01040952;ABBA01040953;AC011530;AC092301;AK093068;AK098837;AK223347;AL136761;AMYH01009855;BC057785;BC136351;BC136352;BC144018;CH471126;DB037465;HC007272;HC044529;NM_030785 AAH57785;AAI36352;AAI36353;AAI46684;BAD97067;CAB66695;CAL38364;CBH19441;CBH30594;EAW57388;NP_110412;Q9H0K4 Hs.146544 1730061;2132035 D19S207;RH11655 RSHL1;RSP4;RSP6;RSPH4B ortholog of mouse radial spokehead-like 1;radial spoke head protein 6 homolog A;radial spoke head-like protein 1;radial spokehead-like 1 APPROVED protein-coding ENSG00000104941 14241 09611 607548 REVIEWED 1603855 RSPO2 R-spondin 2 R-spondins (RSPOs), such as RSPO2, are secreted proteins that regulate beta-catenin (CTNNB1; MIM 116806) signaling (Kim et al., 2006 [PubMed 16357527]).[supplied by OMIM, Mar 2008] 8 8 8 q23.1 105098134 105283118 - 108980721 109164742 - 108911544 109095913 - 6480464 16357527;16344560;15489334;15469841;12975309;12477932;21160497;22127703;23407710;23455924;21732829;22895193 340419 B3KVP3;E5RGU9;E5RH25;E5RHC3;E5RJA2;E5RJU7;Q6UXX9 ABBA01037700;ABBA01037701;AC025508;AK123023;AK123027;AMYH01018956;AP003479;AY358166;BC027938;BC036554;CH471060;DA400238;NM_178565 AAH27938;AAH36554;AAQ88533;BAG53852;BAG53855;EAW91913;EAW91914;EAW91915;EAW91916;NP_848660;Q6UXX9 Hs.444834 1728197;2169992;2172802;2180633;5114185 G32159;G63521;RH45057;SHGC-34805;WI-13991 CRISTIN2;MGC35555;MGC43342 OTTHUMP00000227844;OTTHUMP00000227845;R-spondin 2 homolog;R-spondin-2;hRspo2;roof plate-specific spondin-2 APPROVED protein-coding ENSG00000147655 28583 17536 610575 VALIDATED 1344044 RSS Russell Silver syndrome 7240710 1633648;8403458 140821 10462 180860 1321745 RSPH9 radial spoke head 9 homolog (Chlamydomonas) This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 6 6 6 p21.1 45164388 45190375 + 43720788 43746722 + 43612767 43638748 + 6480464;7240710 19200523;15489334;14702039;14574404;12477932;16344560;20070851;22448264;20301301 221421 Q9H1X1 ABBA01050669;ABBA01050670;ABBA01050671;AK055407;AK291399;AL136131;AMYH01016316;BC029519;CH471081;DA486918;NG_023436;NM_001193341;NM_152732 AAH29519;BAB70918;BAF84088;EAX04220;EAX04221;EAX04222;NP_001180270;NP_689945;Q9H1X1 Hs.534585 1663564;1665408;1680829;2138805;2151508 D6S1173E;L17766;RH81005;STS-W44431;WI-14320 C6orf206;CILD12;FLJ30845;MRPS18AL1 OTTHUMP00000016493;OTTHUMP00000016494;mitochondrial ribosomal protein S18A-like 1;radial spoke head protein 9 homolog APPROVED protein-coding 21057 12875 612648;612650 REVIEWED 1603515 RSPO1 R-spondin 1 This gene is a member of the R-spondin family and encodes a secreted activator protein with two cystein-rich, furin-like domains and one thrombospondin type 1 domain. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. [provided by RefSeq, Jul 2008] 1 1 p34.3 37849538 37873078 - 38076951 38100595 - 6480464;7240710 22815884;19376480;18242177;18085567;17804805;17041600;16710414;16344560;16306530;16109882;15489334;14732490;14702039;12477932;20442404;23617070;21297984;22575959;23044875 284654 Q2MKA7 ABBA01023272;AK098225;AL513220;AMYH01000501;BC114966;CA438631;CH471059;DB273983;DQ165084;DQ165085;DQ318235;HH797330;NG_012239;NM_001038633;NM_001242908;NM_001242909;NM_001242910 AAI14967;ABA54597;ABA54598;ABC54570;BAC05263;CBX87729;EAX07331;NP_001033722;NP_001229837;NP_001229838;NP_001229839;Q2MKA7 Hs.135015 CRISTIN3;FLJ40906;RP11-566C13.1;RSPO OTTHUMP00000004516;OTTHUMP00000180611;OTTHUMP00000180612;OTTHUMP00000180613;R-spondin homolog;R-spondin-1;R-spondin1;hRspo1;roof plate-specific spondin;roof plate-specific spondin-1 APPROVED protein-coding ENSG00000169218 21679 08288 609595;610644 REVIEWED 1347723 RSU1P1 Ras suppressor protein 1 pseudogene 1 10 10 q11.21 42541307 42552852 + 43230155 43234243 + 100129622;414239 ABBA01049992;AL022344;AMYH01002282;CH471160;NG_008398 EAW86569 Y214H10.6 pseudo 31114 INFERRED 6903418 RSU1P3 Ras suppressor protein 1 pseudogene 3 10 53079608 53080405 + 100419964 ABBA01052499;AC069079;AMYH01002738;NG_025504;NG_029982 2135864 WI-11512 pseudo 44392 INFERRED 1606482 RSPRY1 ring finger and SPRY domain containing 1 16 16 16 q13 41720063 41772638 + 55777742 55830451 + 57220241 57272950 + 6480464 15489334;14702039;12975309;12477932;11853319;19549727;21139048;21890473;21906983;19322201 89970 H3BPL2;H3BQG6;H3BQQ7;H3BSC7;Q96DX4 AB075852;ABBA01025263;ABBA01025264;ABBA01025265;AC009090;AK027549;AK124601;AK172845;AL834402;AMYH01007695;AMYH01007696;AMYH01007697;AY358548;BC013173;CH471092;CS300510;NM_133368 AAH13173;AAQ88912;ADZ15513;BAB85558;BAD18809;BAG51341;CAD39064;CAK32174;EAW82909;EAW82910;EAW82911;NP_588609;Q96DX4 Hs.460885 1777153;1783334;2190869;5014051;5015619;5022200;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;L18426;MARC_10053-10054:997213319:1;RH68051;SHGC-141255 KIAA1972 OTTHUMP00000164667;RING finger and SPRY domain-containing protein 1 protein-coding 29420 13908 PROVISIONAL 1345376 RSPO3 R-spondin 3 This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013] 6 6 6 q22.33 128182296 128260461 + 127481741 127559877 + 127440048 127518184 + 1580863;6480464 15489334;19084217;18978678;16357527;22797727;14702039;14574404;12477932;12463421;10842357;12643280;21533022;20379614;20935629;21909109;22504418;22895193;21252233;21397842;21909076;22207351;22965941;23128233;22504420 84870 Q9BXY4 AA568446;ABBA01025936;AF086298;AF251057;AI095468;AK314912;AL031776;AL590733;AMYH01016654;BC022367;CH471051;NM_032784 AAH22367;AAK34947;ABM82333;ABM85509;BAG37424;EAW48114;EAW48115;EAW48116;NP_116173;Q9BXY4 Hs.135254 1686154;1719679;1749431;2106723;2116374;2179727 RH124054;RH94253;SHGC-111164;SHGC-57345;SHGC-57647;THSD2__5255 CRISTIN1;FLJ14440;PWTSR;THSD2 OTTHUMP00000017160;OTTHUMP00000017161;R-spondin 3 homolog;R-spondin-3;hPWTSR;hRspo3;protein with TSP type-1 repeat;roof plate-specific spondin-3;thrombospondin type-1 domain-containing protein 2;thrombospondin, type I, domain containing 2;thrombospondin-like APPROVED protein-coding 20866 18181 610574 REVIEWED 1606784 RSRC2 arginine/serine-rich coiled-coil 2 12 12 12 q24.31 122581526 122603559 - 121555226 121577500 - 122989190 123011560 - 6480464 17203224;16713569;14702039;12477932;16344560;21832049;21555454 65117 E1B6W4;E9PI52;F5GYD2;F5H1Z2;H0YGP9;Q7L4I2 AB212664;ABBA01060462;AC127002;AF161432;AK001883;AK023985;AK056114;AK056256;AK094465;AMYH01004828;BC008684;BC067773;BX640711;BX647884;CA442478;CH471054;DB081070;NM_023012;NR_036434;NR_036435;NR_036436 AAF28992;AAH08684;AAH67773;BAB14755;BAE93762;BAG50986;CAE45830;EAW98327;EAW98328;EAW98329;EAW98330;EAW98331;EAW98332;NP_075388;Q7L4I2 Hs.432996 1720681;1768535;2106763;2161163;2167231 G17637;G59156;GC06S04;RH44615;RH66589 FLJ11021 OTTHUMP00000236187;arginine/serine-rich coiled-coil protein 2 protein-coding ENSG00000111011 30559 13342 VALIDATED 1602488 RSRC1 arginine/serine-rich coiled-coil 1 This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 3 3 3 q25.32 156251731 156686586 + 159310586 159745276 + 157827892 158262582 + 6480464 15798186;19065146;16169070;15489334;12477932;19913121;20628086;17207965;20379614;20360068;21555454;11329013;20600988 51319 C9J367;C9J713;C9J8Q2;C9JVB3;F8WDM0;H7C558;H7C5Q0;Q96IZ7 ABBA01058820;ABBA01058821;ABBA01058822;ABBA01058823;AC074276;AC106707;AC112502;AC112774;AC129107;AF208853;AK290334;AK300388;AMYH01013606;BC006982;BC010357;BG205691;CH471052;DA273191;NM_001271834;NM_001271838;NM_016625 AAF64267;AAH06982;AAH10357;ADQ32651;BAF83023;BAG62122;EAW78692;EAW78693;EAW78694;NP_001258763;NP_001258767;NP_057709;Q96IZ7 Hs.591283 1679990;1713615;1716219;1748627;1750497;1784602;1891244;2117218;2122790;2151412 D3S3419;REN16326;RH120686;RH121136;RH65530;RH98506;SHGC-110282;SHGC-111808;SHGC-111925;SHGC-13701 BM-011;MGC12197;SFRS21;SRrp53 OTTHUMP00000213400;OTTHUMP00000213443;OTTHUMP00000213444;OTTHUMP00000213445;OTTHUMP00000213446;OTTHUMP00000213447;OTTHUMP00000213451;arginine/serine-rich coiled coil 1;arginine/serine-rich coiled-coil protein 1;serine/Arginine-related protein 53;splicing factor, arginine/serine-rich 21 APPROVED protein-coding ENSG00000174891 24152 18006 613352 REVIEWED 6903393 RSU1P2 Ras suppressor protein 1 pseudogene 2 10 q11.21 45594924 45650044 - 12477932;14702039 100133308 ABBA01050024;ABBA01050025;AK057413;AK310252;AL358394;AMYH01002298;BC043276;NR_024472 Hs.434365 1709020;1757515;1782120 SHGC-144890;SHGC-155154;SHGC-79578 pseudo 44391 VALIDATED 1606213 RTBDN retbindin This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] 19 19 19 p12 12826003 12835935 - 12797296 12807230 - 12936291 12946242 - 6480464 16344560;16712791;8889548;15489334;14702039;12477932;12107411;19862010;17207965;21697133 83546 K7EIS2;K7EKV3;K7EM70;K7EN64;K7ENA4;K7EQL9;K7ES48;K7ESG0;K7ESL8;Q8N210;Q9BSG5 AB593122;ABBA01029769;ABBA01029770;AC020934;AK093672;AMYH01009496;AMYH01009497;AY028917;BC005063;BG471112;BM688006;BM688127;BM708463;BQ639040;BU689643;CB140693;CH471106;DB106146;EL946853;NM_001080997;NM_001270440;NM_001270441;NM_001270442;NM_001270443;NM_001270444;NM_001270445;NM_031429 AAH05063;AAK26169;ADQ31883;BAC04217;BAJ84062;EAW84314;EAW84315;EAW84316;NP_001074466;NP_001257369;NP_001257370;NP_001257371;NP_001257372;NP_001257373;NP_001257374;NP_113617;Q9BSG5 Hs.21162 1341815;1676340;1711402 D19S914;G42185;RH99147 FLJ36353 retbindin APPROVED protein-coding ENSG00000132026 30310 18007 609553 REVIEWED 6771191 RTEL1P1 regulator of telomere elongation helicase 1 pseudogene 1 4 113277091 113281069 + 100421429 ABBA01063814;AC004049;AMYH01014468;NG_025241 pseudo 44213 INFERRED 1313402 RSU1 Ras suppressor protein 1 This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008] 10 10 p13 16672621 16899459 - 16632615 16859453 - 1580863;6480464 17353931;1508180;18436335;15878342;15489334;15242332;14702039;12665801;12510772;12477932;8816460;8288261;8125298;8076819;7624154;21355061;16385451;19019082;20379614;23383273;21832049;22863883;21139048;21890473;21900206;21906983;19322201;19738201;21963094;23000965;23251661;20697350 6251 Q15404 ABBA01034563;ABBA01034564;ABBA01034565;ABBA01034566;AC073367;AK023951;AK024109;AK055596;AK092036;AK225681;AK292911;AK312520;AL365215;AMYH01002065;BC005993;BC008384;BC008691;BC015644;BC016337;BC065296;BC107898;BG400752;BX647733;CH471072;CR536521;CR541840;EF445013;NM_012425;NM_152724 AAH05993;AAH08691;AAH15644;AAI07899;ACA06048;ACA06049;ACA06050;BAF85600;BAG35419;CAG38758;CAG46639;EAW86222;EAW86223;EAW86224;NP_036557;NP_689937;Q15404 Hs.524161 1335499;1338139;1646992;1649993;1651603;1668292;1676690;1699122;1713281;1755549;2167669;5024761;5037552 A008Q44;D10S1476;D10S1661;D8S2279;RH103137;RH120632;RH17616;RH36905;SHGC-142403;STS-AA012883;STS-AA019537;STS-N32556;WI-20644 FLJ31034;RSP-1 OTTHUMP00000019216;OTTHUMP00000019217;OTTHUMP00000019218;OTTHUMP00000019219;ras suppressor protein 1;ras suppressor protein 1 variant 1;ras suppressor protein 1 variant 2;ras suppressor protein 1 variant 3;rsu-1 APPROVED protein-coding ENSG00000148484 10464 01551 179555 REVIEWED 1313725 RTDR1 rhabdoid tumor deletion region gene 1 This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 7216163 7298792 - 21731593 21814241 - 23401593 23484241 - 1580863;6480464 18391951;16189514;15761153;15489334;15461802;12477932;10607907;22504420 27156 B5MCI8;H7BZU8;H7C2M5;H7C3W6;Q9UHP6 ABBA01055100;ABBA01055101;ABBA01055102;ABBA01055103;AC000029;AF133587;AK299530;AK310327;AMYH01012639;BC008986;CH471095;CR456567;NM_014433 AAF02484;AAH08986;BAH13060;CAG30453;CAK54598;CAK54897;EAW59557;NP_055248;Q9UHP6 Hs.526920 1676376;1681526;1709250;1743401;1744379;1769194;2117874;2125455;2126355;2127349;2169960;2170554;2190827;5037552 A003B11;D22S1002E;D8S2279;G15854;GDB:315989;GDB:452621;GNAZ;NIB1826;RH1696;RH92755;SHGC-7743;SHGC-85815;STS-R98618;WI-14102 MGC16968 OTTHUMP00000197915;rhabdoid tumor deletion region protein 1 APPROVED protein-coding ENSG00000100218 13437 16136 605663 REVIEWED 1345647 RTEL1 regulator of telomere elongation helicase 1 In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), generates a non-coding transcript. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] 20 20 20 q13.3 58970388 59011862 + 61760091 61798045 + 62289163 62327606 + 6480464 11780052;10655513;10470851;18957201;15210109;14702039;12477932;12168954;19913121;20610542;20628086;20847058;19578366;19578367;20368557;20462933;21102463;21350045;21531791;21297633;21920947;23453664;21987572;21145461;22886559;22678362;23329068;21963094;23115063;23259602;22505724 51750 F6WH68;Q9Y4R6 ABBA01021415;ABBA01021416;AF217795;AF217796;AK000485;AK299332;AK302508;AK304798;AL080127;AL121845;AL353715;AMYH01012088;AMYH01012089;AW005229;CH471077;NM_016434;NM_032957 AAF33687;AAF35243;BAA91197;BAG61337;BAG63785;BAG65548;CAB45725;EAW75238;EAW75239;EAW75240;EAW75241;EAW75245;NP_057518;NP_116575;Q9NZ71 Hs.745057 2108587 TNFRSF6B_2708 C20orf41;DKCB5;DKFZp434C013;KIAA1088;NHL;RTEL;bK3184A7.3 OTTHUMP00000031577;OTTHUMP00000184892;OTTHUMP00000221856;OTTHUMP00000221858;OTTHUMP00000221859;novel helicase-like;regulator of telomere elongation helicase 1;regulator of telomere length APPROVED protein-coding ENSG00000258366 15888 15281 608833;615190 REVIEWED 1605075 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase 22 22 22 q12 16585734 16610445 - 31113569 31138235 - 32783562 32808274 - 6480464 16236267;15489334;15461802;12529303;12477932;11042152;10931946;10591208;15163412;5163412;20308539;21311021;22863883;22939629;16196087;17623298;18781797;20639865;21139048;21209330;21890473;21906983;22586326;21628590;21145461;23277564;23382691;19738201;19805454;21963094;23000965;23181366;22174317;22505724 51493 E7EQS9;Q9Y3I0 ABBA01055375;AF155658;AF161466;AK297826;AK297908;AK301945;AK312503;AL021937;AL050255;AL137272;AMYH01012728;BC000151;BC002970;BC010308;BC016707;BU615556;CH471095;CR456450;CR457175;DC396330;NM_014306 AAF29081;AAF67477;AAH00151;AAH02970;AAH10308;AAH16707;ABM81857;ABM85018;BAG35405;BAG60162;BAG60227;BAG63363;CAB43357;CAB70670;CAG30336;CAG33456;EAW60021;NP_055121;Q9Y3I0 Hs.474643 1799908;1800966;1801908;1802116;1807952;1808502;1810680;1812020;1821930;1822966;1823502;1825334;1828664;1831978;1831980;1832512;1835792;1835986;1836402;1841142;1841484;1845014;1855433;2013524;2013526;2013528;2013530;2013532;2013534;2013536;2013538;2013540;2013542;2013544;2013546;2013548;2013550;2013552;2013554;2013556;2013558;2013560;2013562;2013564;2013566;2013568;2013570;2013572;2013574;2013576;2013578;2013580;2013582;2013584;2013586;2013588;2013590;2013592;2013594;2013596;2013598;2013600;2013602;2013604;2013606;2013608;2013610;2013612;2013614;2013616;2013618;2013620;2013622;2013624;2013626;2013628;2013630;2013632;2013634;2013636;2013638;2013640;2013642;2013644;2013646;2013648;2013650;2013652;2013654;2013656;2013658;2013660;2013662;2013664;2013666;2013668;2013670;2013672;2013674;2013676;2013678;2013680;2013682;2013684;2013686;2013688;2013690;2013692;2013694;2013696;2013698;2013700;2013702;2013704;2013706;2013708;2013710;2013712;2013714;2013716;2013718;2013720;2013722;2013724;2013726;2013728;2013730;2013732;2013734;2013736;2013738;2013740;2013742;2013744;2013746;2013748;2013750;2013752;2013754;2013756;2013758;2098684;2098686;2098688;2098690;2098692;2098694;2098696;2098698;2098700;2098702;2098704;2098706;2098708;2098710;2098712;2098714;2098716;2098718;2109407;2120378;2132561;2168007 A002Q35;D22S1242;D22S746;ECD00808;ECD01348;ECD01835;ECD01940;ECD04951;ECD05233;ECD06334;ECD07015;ECD12051;ECD12571;ECD12842;ECD13773;ECD15459;ECD17127;ECD17128;ECD17395;ECD19057;ECD19154;ECD19363;ECD21765;ECD21938;ECD23723;HSPC117_9724;REN77699;REN77700;REN77701;REN77702;REN77703;REN77704;REN77705;REN77706;REN77707;REN77708;REN77709;REN77710;REN77711;REN77712;REN77713;REN77714;REN77715;REN77716;REN77717;REN77718;REN77719;REN77720;REN77721;REN77722;REN77723;REN77724;REN77725;REN77726;REN77727;REN77728;REN77729;REN77730;REN77731;REN77732;REN77733;REN77734;REN77735;REN77736;REN77737;REN77738;REN77739;REN77740;REN77741;REN77742;REN77743;REN77744;REN77745;REN77746;REN77747;REN77748;REN77749;REN77750;REN77751;REN77752;REN77753;REN77754;REN77755;REN77756;REN77757;REN77758;REN77759;REN77760;REN77761;REN77762;REN77763;REN77764;REN77765;REN77766;REN77767;REN77768;REN77769;REN77770;REN77771;REN77772;REN77773;REN77774;REN77775;REN77776;REN77777;REN77778;REN77779;REN77780;REN77781;REN77782;REN77783;REN77784;REN77785;REN77786;REN77787;REN77788;REN77789;REN77792;REN77793;REN77794;REN77795;REN77796;REN77797;REN77798;REN77799;REN77800;REN77801;REN77802;REN77803;REN77804;REN77805;REN77806;REN77807;REN77808;REN77809;REN77810;REN77811;REN77812;REN77813;REN77814;REN77815;REN77816;REN77817;REN77818;RH70409;stSG602736;stSG602737;stSG602738;stSG602739;stSG602740;stSG602741;stSG602742;stSG602743;stSG602744;stSG602745;stSG602746;stSG602747;stSG602748;stSG602749;stSG602750;stSG602751;stSG602752;stSG602753 C22orf28;DJ149A16.6;FAAP;HSPC117;RP1-149A16.6 OTTHUMP00000028639;ankyrin repeat domain 54;focal adhesion-associated protein;hypothetical protein LOC51493;novel protein HSPC117;tRNA-splicing ligase RtcB homolog APPROVED protein-coding ENSG00000100220 26935 13695 613901 VALIDATED 1344520 RTCA RNA 3'-terminal phosphate cyclase This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 1 1 1 p21.2 98988517 99014945 + 100504351 100529915 + 100731714 100758325 + 1323842;1580863;6480464 9184239 16344560;15489334;12477932;8889548;2199762;17353931;21145461;18029348;19615732;19690099;22939629;21139048;21890473;21963094 8634 A6NIC1;O00442 ABBA01045441;ABBA01045442;AI587400;AK292366;AK299793;AK307445;AL445928;AL663111;AMYH01000825;AU310497;BC012604;CA437545;CF141820;CH471097;DA361597;DB576272;NM_001130841;NM_003729;Y11651;Y11652 AAH12604;ADZ15734;BAF85055;BAG61672;CAA72364;CAA72365;EAW72961;EAW72962;NP_001124313;NP_003720;O00442 Hs.484222 1709136;2107557;2118683;2121315;5022450;5022578;5024039;5024761 D10S275;D16S325;D1S1423;RH36905;RTCD1_7923;SHGC-53265;SHGC-75228;SHGC-85729 RPC;RTC1;RTCD1 OTTHUMP00000012593;OTTHUMP00000012594;RNA 3'-terminal phosphate cyclase;RNA cyclase;RNA terminal phosphate cyclase domain 1;RNA terminal phosphate cyclase domain-containing protein 1;RNA-3'-phosphate cyclase;RTC domain containing 1;RTC domain-containing protein 1;phosphate cyclase APPROVED protein-coding ENSG00000137996 17981 15280 611286 REVIEWED 6766967 RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring RTEL1 (regulator of telomere elongation helicase 1) and TNFRSF6B (tumor necrosis factor receptor superfamily, member 6b, decoy) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 20 q13.33 62289163 62330051 + 10470851;10655513;12477932;20967262;23259602;19578366;19578367;21297633;21531791;22886559 100533107 D6RA96;F6WH68 ABBA01021415;ABBA01021416;AL121845;AL353715;AMYH01012088;AMYH01012089;NR_037882 Hs.745057 APPROVED miscrna ENSG00000026036 44095 VALIDATED 1321684 RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010] 15 15 15 q15.1 18477273 18543722 + 39496608 39563049 + 41709302 41775761 + 737633;6480464 12477932 17353931;18029348;18184592;17081983;15632063;15489334;12168954;9039502;17576814;18469135;20379614;21832049;22863883;22939629;19345177;20178742;19471022;19953087;20305087;21139048;21693764;21906983;21726809;15923622;20881960 23168 H0YKX1;Q92541 ABBA01038405;ABBA01038406;ABBA01038407;ABBA01038408;AC087721;AI871361;AK292302;AMYH01006572;AMYH01006573;AMYH01006574;AW291085;BC015052;BF979715;CD367287;CH471125;D87440;NG_027680;NM_015138 AAH15052;BAA13382;BAF84991;EAW92490;EAW92491;EAW92492;NP_055953;Q92541 Hs.511096 1658806;1687686;1754945;1776148;1850639;2115520 AFM282XC5;RH46920;RH79051;RH80780;SHGC-141865;STS-AA029898 CDG1N;GTL7;KIAA0252 OTTHUMP00000165174;RNA polymerase-associated protein RTF1 homolog;ortholog of mouse gene trap locus 7 APPROVED protein-coding ENSG00000137815 28996 11071 611633 REVIEWED 1312504 RTKN2 rhotekin 2 10 10 10 q21.2 57220086 57295600 - 63622959 63698472 - 63952953 64028466 - 1580863;6480464 15504364;15120425;14702039;12477932;16385451;19430483;20936779;22990118;20360068;23028356;20467438;23273568 219790 Q5SVY4;Q8IZC4 ABBA01019487;AC024597;AK096671;AL607150;AMYH01002772;AY150309;BC025765;BC048002;BC141821;BC142725;CH471083;CR749217;GN344023;NM_145307 AAH25765;AAI41822;AAI42726;AAI60167;AAN71738;BAC04837;CAH18074;CAY55947;EAW54230;EAW54231;EAW54232;NP_660350;Q8IZC4 Hs.58559 1718995 G58245 DKFZp686J10120;PLEKHK1;bA531F24.1 OTTHUMP00000035699;PH domain-containing family K member 1;pleckstrin homology domain containing, family K member 1;pleckstrin homology domain-containing family K member 1;rhotekin-2 protein-coding ENSG00000182010 19364 17863 PROVISIONAL 1354047 RTN3P1 reticulon 3 pseudogene 1 4 4 q31.21 146515882 146518659 + 146296532 146299129 + 724607 12832288 10331947 152905;359808 ABBA01070027;AC079228;AMYH01014594;NG_005175 2167608 D11S2301E NSPLII;RTN3PS APPROVED pseudo 19212 INFERRED 1602404 RTL1 retrotransposon-like 1 This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009] 14 14 14 q32.2 81400811 81405006 - 100416802 100420878 - 101346992 101351184 - 6480464 18176563;16155747;16093683;15854907;12796779;12508121;12477932;19966805;23593033 388015 A6NKG5;B9EK54 ABBA01048516;AL117190;AMYH01006015;BC150617;NM_001134888 A6NKG5;AAI50618;NP_001128360 Hs.298602 5492035 MARC_10877-10878:993140164:1 MART1;Mar1;PEG11 OTTHUMP00000236199;mammalian retrotransposon derived protein 1;paternally expressed gene 11 protein;retrotransposon-derived protein PEG11;retrotransposon-like protein 1 APPROVED protein-coding ENSG00000254656 14665 611896 REVIEWED 1322335 RTFDC1 replication termination factor 2 domain containing 1 20 20 20 q13.31 51784073 51834372 + 54477092 54527345 + 55043647 55093942 + 6480464 15635413;15489334;15342556;14702039;12477932;11780052;11042152;10931946;8125298;21139048;21900206 51507 A2A2L5;A2A2L6;A8MSH5;Q9BY42 ABBA01052894;ABBA01052895;AF117231;AF161513;AF161518;AF212244;AI352436;AK000481;AK000586;AK026118;AK225135;AK293662;AK302029;AK314563;AL109806;AMYH01012005;AY320413;BC001536;BC002769;BC003359;BP307634;BU537939;NM_016407 AAF17212;AAF29128;AAF29133;AAH02769;AAH03359;AAK14929;AAP73812;BAA91193;BAG37146;BAG57109;BAG63427;NP_057491;Q9BY42 Hs.517134 2128917;2168444;5093764 A009W14;G32909;RH17873 C20orf43;CDAO5;HSPC164;SHUJUN-3 OTTHUMP00000031353;OTTHUMP00000166074;OTTHUMP00000166075;UPF0549 protein C20orf43;hypothetical protein LOC51507;protein RTF2 homolog;replication termination factor 2 domain-containing protein 1 APPROVED protein-coding ENSG00000022277 15890 12769 VALIDATED 1351891 RTN2 reticulon 2 This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012] 19 19 19 q13.32 42794649 42806419 - 50680390 50692153 - 45988546 46000313 - 1580863;6480464;7240710 9693037;18096700;15345747;15286784;12832288;12477932;10672514;9530622;8812484;14499622;19720795;16344560;10677333;12427890;22232211 6253 A8K7F2;K7EMR7;O75298;Q6GMT0;Q7RTN0;Q96CG9 AA845604;ABBA01040931;ABBA01040932;AC138534;AF004222;AF004223;AF004224;AF038540;AI971392;AK291967;AK314158;AMYH01009851;AMYH01009852;BC014244;BC073874;BK001686;BK001687;BK001688;BK001689;BK001690;BK001691;BM548456;CH471126;DA898294;NG_032157;NM_005619;NM_206900;NM_206901 AAC14910;AAC32542;AAC32543;AAC32544;AAH73874;BAF84656;DAA01932;DAA01933;DAA01934;DAA01935;DAA01936;DAA01944;EAW57354;EAW57355;EAW57356;EAW57357;EAW57358;EAW57359;NP_005610;NP_996783;NP_996784;O75298 Hs.47517 1331558;1335108;1337579;1340062;1681658;1686142;1742049;1758951;2217926 D19S219;D19S220;D19S416;D19S897;GDB:190035;RH45916;RH76054;RTN2_3450;SHGC-2303 NSP2;NSPL1;NSPLI;SPG12 NSP-like protein 1;NSP-like protein I;NSPLI;Neuroendocrine-specific protein-like 1;neuroendocrine-specific protein-like I;reticulon-2;spastic paraplegia 12 (autosomal dominant) APPROVED protein-coding ENSG00000125744 10468 04421 603183;604805 REVIEWED 1354382 RTKN rhotekin This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 p13.1 74506496 74522568 - 74652988 74669060 - 1580863;6480464 10940294;16007136;15480428;19294487;17546647;16979770;16646955;15761153;15599595;15489334;15316142;12879077;12516569;12477932;10873388;9847074;9073523;12593858;8662891;15834426;15889147;15766663;15694321;15467718;15652748;14506264;18854161;19360360;19805522;21832049;22228765;21906983;15075243 6242 Q9BST9 ABBA01075600;AC005041;AF049227;AF290512;AK307302;AK308519;AMYH01010454;AW410753;BC004558;BC017727;BG470092;BQ574374;BQ721791;CH471053;NM_001015055;NM_001015056;NM_033046 AAG01181;AAH04558;AAH17727;AAL16767;ABM82397;ABW03397;EAW99674;EAW99675;EAW99676;NP_001015055;NP_001015056;NP_149035;Q9BST9 Hs.192854 2147387;2159850 A005N24;WI-14006 OTTHUMP00000160413;OTTHUMP00000202559;OTTHUMP00000202560;rhotekin APPROVED protein-coding ENSG00000114993 10466 03795 602288 REVIEWED 732399 RTN1 reticulon 1 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 14 14 q23.1 59132447 59407310 - 60062694 60337557 - 1580863;6480464 17786215;8833145;19140693;17596210;17303085;16602018;16189514;15489334;15286784;14995077;14702039;12873973;12832288;12477932;11126360;9560466;8900485;8889548;8275708;8062278;7844160;7685762;7515034;15117958;22522967;19665976;19668229;20379614;20708685;15086514;16500619;16505974;20000484 6252 A8K3B9;A8MT72;Q16799 ABBA01018271;ABBA01018272;ABBA01018273;AK128113;AK290534;AK297492;AL121694;AL133299;AL139194;AMYH01005765;BC000314;BC003003;BC068510;BC090862;BC111694;BG704578;BM671733;BX449967;CH471061;CR457030;DQ355431;L10333;L10334;L10335;NG_029558;NM_021136;NM_206852 AAA59950;AAA59951;AAA59952;AAH00314;AAH03003;AAH90862;AAI11695;ABC71342;BAF83223;BAH12591;CAG33311;EAW80762;EAW80763;EAW80764;NP_066959;NP_996734;Q16799 Hs.368626 1645691;1654326;1681740;1704716;1717267;1750969;1850086;1852993;2156788;2168717 G17818;G35773;G35945;G36061;RH122048;RH68289;RH80660;SHGC-104853;SHGC-12509;SHGC-79018 MGC133250;NSP OTTHUMP00000165247;OTTHUMP00000165248;OTTHUMP00000165249;neuroendocrine-specific protein;reticulon-1 APPROVED protein-coding ENSG00000139970 10467 02921 600865 REVIEWED 1348623 RTN4RL1 reticulon 4 receptor-like 1 17 17 17 p13.3 1854579 1944759 - 1784721 1874928 - 1837971 1928178 - 1580863;6480464 12694398;14664809;12839991;12477932;12068310;22133682 146760 Q86UN2 ABBA01054682;ABBA01054683;ABBA01054684;ABBA01054685;ABBA01054686;ABBA01054687;AC099684;AC130689;AF532859;AI680692;AL535679;AL834409;AMYH01008005;AMYH01008006;AY250219;BC023311;BC128608;BK001305;CH471108;NM_178568 AAI28609;AAP21836;AAP82836;CAD39071;DAA01388;EAW90570;EAW90571;NP_848663;Q86UN2 Hs.22917 1340644;1764627;1766683;2127674;2144969;2176591 D17S654;D17S831;G29262;SHGC-148214;SHGC-149967;STS-AA004275 DKFZp547J144;NGRH2;NgR3 Nogo-66 receptor homolog 2;Nogo-66 receptor-related protein 3;nogo receptor-like 2;reticulon-4 receptor-like 1 protein-coding 21329 11523 610461 VALIDATED 1349287 RTN3 reticulon 3 This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012] 11 11 q13 63205498 63283939 + 63448922 63527363 + 1580863;6480464 10331947;19386906;19364499;19284479;17699523;17379544;17191123;17182608;17081983;17031492;16979658;16965550;16847569;16303743;16189514;16054885;15946766;15799019;15560370;15489334;15350194;15286784;15117958;14986927;14702039;12873973;12832288;12811824;12477932;12054434;8125298;18029348;19405102;19521671;19669607;19730683;20379614;20374499;18779370;20717916;22939629;21964562;16196087;21044950;21139048;21906983;23407961;22190034;22505724 10313 B7Z4M1;F5GWG7;F5H617;F5H891;Q59EP0 AB209771;ABBA01003259;ABBA01003260;ABBA01003261;ABBA01003262;ABBA01003263;ABBA01003264;AF059524;AF059529;AF119297;AK075412;AK094965;AK122727;AK127079;AK222898;AK295361;AK295534;AK295758;AK297529;AK297533;AK304100;AK307811;AK308083;AK309766;AMYH01003694;AP000753;AP006289;AY427821;AY750848;BC000634;BC000865;BC010556;BC011394;BC022993;BC100822;BC100823;BC105981;BC105982;BC118550;BC118628;BK001681;BK001682;BK001683;BK001684;BK001685;CH471076;CQ754316;CQ754322;CS051431;NM_001265589;NM_001265590;NM_001265591;NM_006054;NM_201428;NM_201429;NM_201430;NR_049750;NR_049751 AAC99319;AAD20951;AAD26810;AAH00634;AAH00865;AAH10556;AAH11394;AAH22993;AAI00823;AAI00824;AAI05982;AAI05983;AAI18551;AAI18629;AAI48633;AAR02474;AAU81930;BAD93008;BAD96618;BAG52134;BAH12044;BAH12097;BAH12179;BAH12606;BAH12607;BAH14104;CAF32494;CAF32497;CAI72209;DAA01930;DAA01931;DAA01941;DAA01942;DAA01943;EAW74164;EAW74165;EAW74166;EAW74167;EAW74168;EAW74169;EAW74170;NP_001252518;NP_001252519;NP_001252520;NP_006045;NP_958831;NP_958832;NP_958833;O95197 Hs.743229 1658131;1674701;1686192;1737081;1786238;2157163;2167608;2176234 D11S2301E;D11S2837;D11S4017;D11S4400;D3S4219;D7S2862;RH91589;SHGC-132011 ASYIP;HAP;NSPL2;NSPLII;RTN3-A1 ASY interacting protein;NSP-like protein 2;NSP-like protein II;OTTHUMP00000237754;OTTHUMP00000237755;OTTHUMP00000237756;OTTHUMP00000237757;OTTHUMP00000237759;homolog of ASY protein;isoforme III;isoforme VI;neuroendocrine-specific protein-like 2;neuroendocrine-specific protein-like II;reticulon-3 APPROVED protein-coding ENSG00000133318 10469 18516 604249 REVIEWED 1348834 RTN4IP1 reticulon 4 interacting protein 1 This gene encodes a novel mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. The interaction of reticulon 4 with mitochondrial proteins may provide insight into the mechanisms for reticulon-induced inhibition of neurite growth. [provided by RefSeq, Jul 2008] 6 6 6 q21 107639823 107698287 - 107125596 107184066 - 107018903 107077373 - 1580863;6480464 16189514;15489334;14702039;14574404;12477932;12160746;12067236;20379614;20877624 84816 G3V1R2;Q8WWV3 A52373;ABBA01026193;ABBA01026194;ABBA01026195;AF336861;AF439711;AK095207;AK313962;AL390074;AMYH01016566;AY063761;BC006399;BE894352;BQ936729;CH471051;NM_032730 AAH06399;AAK64603;AAL34525;AAL40856;ABM84071;ABM87437;BAC04499;BAG36678;CAA03396;EAW48409;EAW48410;EAW48411;NP_116119;Q8WWV3 Hs.155839 1714819;1732584;5016352 D17S1152;L30021;RH120076 MGC12934;NIMP NOGO-interacting mitochondrial protein;OTTHUMP00000016926;reticulon-4-interacting protein 1, mitochondrial APPROVED protein-coding 18647 18008 610502 REVIEWED 1344970 RTN4RL2 reticulon 4 receptor-like 2 11 11 11 q12.1 54584904 54600951 + 56984915 57000960 + 57228339 57244384 + 1580863;6480464 12694398;14664809;18337405;16554811;15629437;15489334;12839991;12477932;20360068;21906273 349667 G3V1D7;Q0GGW3;Q86UN3 ABBA01021472;ABBA01021473;AF532858;AMYH01003652;AP002893;AX751514;AY250221;BC113673;BC117276;BC143818;BK001302;CH471076;DQ864979;NM_178570 AAI13674;AAI17277;AAI43819;AAP21835;AAP82838;ABI23432;CAD99155;DAA01385;EAW73747;EAW73748;NP_848665;Q86UN3 Hs.502618 NGRH1;NgR2 Nogo-66 receptor homolog 1;OTTHUMP00000234816;nogo receptor-like 3;nogo-66 receptor-related protein 2;reticulon-4 receptor-like 2 protein-coding 23053 11524 610462 PROVISIONAL 1607007 RTN4R reticulon 4 receptor This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008] 22 22 q11.21 18608938 18635816 - 20228938 20255816 - 6480464;7240710 11201742;11256614;19439611;19386899;19328785;19052207;18043741;17959786;17188332;17182778;16897606;16381901;16342940;15749087;15532024;15489336;15489334;15461802;15340161;15331667;14966521;14702039;12975309;12839991;12718853;12477932;12422217;12378589;12183616;12160746;12089450;12068310;12037567;11891768;11230166;11076863;10591208;15953414;15694321;15694322;20844138;21454605;16341674;12426574;12692556;12951563;17335080;20398908;20524398;17192395;20697954;21377214;22133682;21906273;21681431;23251661;22728374 65078 H7C0V4;H7C215;Q9BZR6 ABBA01005393;AC007663;AF283463;AK054602;AL834449;AMYH01012486;BC011787;BM762412;CH471176;CR456360;HC469551;NG_012176;NM_023004 AAG53612;AAH11787;ABM83817;ABM87137;CAD39109;CAG30246;CAK54501;CAK54800;CAL38146;CBL54388;EAX02975;EAX02976;NP_075380;Q9BZR6 Hs.30868 2124339 WI-16026 NGR;NOGOR Nogo-66 receptor;OTTHUMP00000197856;OTTHUMP00000197866;UNQ330/PRO526;nogo receptor;reticulon-4 receptor APPROVED protein-coding ENSG00000040608 18601 16123 181500;605566 REVIEWED 730919 RTN4 reticulon 4 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 2 2 p16.3 55052829 55131238 - 55199325 55277734 - 1580863;2314957;6480464 17439704 10667796;15820318;15749087;15661375;15498874;15489336;15489334;15345747;15286784;15245492;15234466;15147731;14741411;14702039;14592966;12811824;12618765;12510146;12488097;12477932;12425946;12377379;12270696;12089450;12067236;12037567;11891768;11866689;11358445;11201742;11076863;11042152;15953657;10773680;11126360;10667797;15034570;19336839;19165527;19054571;19035836;18948092;18685489;18495952;18234903;18080785;17971502;17764014;17645629;17626519;17592524;17455292;17437522;17242333;17081983;17029193;17022955;16979658;16965550;16905119;16835300;16772867;16646068;16629624;16381901;16189514;16095439;21454605;17353931;15694321;10667780;10048485;16169070;20487307;21251247;20599731;20971739;12426574;12692556;12951563;17335080;17474147;18583979;19405102;19508346;19553259;19587271;19654939;19665976;19889996;20018888;20379614;20975041;18779370;20717916;21183689;20938157;23142642;21166502;22939629;23313137;21111015;21697531;21139048;21890473;21906983;21963094;22133682;18781797;21900206;21835431;21044950;22313113;22320844;21503119;21988832;22304920;23000965;23146900;22190034 57142 C9J685;F8W914;F8WAM4;H7C106;Q9H212 AB015639;AB020693;AB040462;AB040463;AB073351;AB073359;ABBA01075259;AC013414;AC092461;AC093165;AF063601;AF077050;AF087901;AF125103;AF132047;AF132048;AF148537;AF148538;AF177332;AF320999;AF333336;AI671568;AJ251383;AJ251384;AJ251385;AK075039;AK090714;AK093785;AK098385;AK129806;AK130812;AK172726;AK302741;AMYH01010362;AY102276;AY102277;AY102278;AY102279;AY102285;AY123245;AY123246;AY123247;AY123248;AY123249;AY123250;BC001035;BC007109;BC010737;BC012619;BC014366;BC016165;BC026788;BC068991;BC071848;BC150182;BC152425;BC152555;CH471053;CQ829486;CS061793;DQ778739;HA642584;HC469555;HI649219;NG_029037;NM_007008;NM_020532;NM_153828;NM_207520;NM_207521 AAD27783;AAD31021;AAD31022;AAD39920;AAG12176;AAG12177;AAG12205;AAG17976;AAG40878;AAG43160;AAH01035;AAH07109;AAH10737;AAH12619;AAH14366;AAH16165;AAH26788;AAH68991;AAH71848;AAI39929;AAI50183;AAI52426;AAI52556;AAK20831;AAM64240;AAM64241;AAM64242;AAM64243;AAM64244;AAM64245;AAM64246;AAM64247;AAM64248;AAM64249;AAM64250;AAM64251;AAM64252;AAM64253;AAM64254;AAX93116;AAY24029;AAY24239;ABG76010;BAA74909;BAA83712;BAB18927;BAB18928;BAE45714;BAE45717;BAG63956;CAB99248;CAB99249;CAB99250;CAH03193;CAI79370;CAL37631;CAL37982;CAL38000;CAL38158;CAL38414;CAL38434;CAZ39560;CBL54390;CBX89232;EAX00115;EAX00116;EAX00117;EAX00118;EAX00119;EAX00120;EAX00121;EAX00122;EAX00123;EAX00124;EAX00125;EAX00126;EAX00127;EAX00128;EAX00129;EAX00130;EAX00131;EAX00132;NP_008939;NP_065393;NP_722550;NP_997403;NP_997404;Q9NQC3 Hs.637850 1650089;1673126;1676023;1700104;1734732;1772571;1848194;1852301;1857096;2114068;2121223;2173787;5093354 A002P20;A009M26;AB049853;D2S1521E;D2S1848;D2S1981;G32670;RH103665;RH11556;RH36073;RH80159;SGC32447;SHGC-5636 ASY;NI220/250;NOGO;NOGO-A;NOGOC;NSP;NSP-CL;Nbla00271;Nbla10545;Nogo-B;Nogo-C;RTN-X;RTN4-A;RTN4-B1;RTN4-B2;RTN4-C Human NogoA;My043 protein;OTTHUMP00000159690;OTTHUMP00000159691;OTTHUMP00000201714;OTTHUMP00000201715;OTTHUMP00000201716;OTTHUMP00000201800;OTTHUMP00000201801;OTTHUMP00000201802;OTTHUMP00000201803;foocen;neurite growth inhibitor 220;neurite outgrowth inhibitor;neuroendocrine-specific protein C homolog;reticulon 5;reticulon-4;reticulon-5 APPROVED protein-coding ENSG00000115310 14085 07259 604475 REVIEWED 1604751 RTP1 receptor (chemosensory) transporter protein 1 3 3 3 q27.3 185347101 185351080 + 188397968 188401947 + 186915274 186919253 + 6480464 22570474;16720576;16271481;15489334;12477932;15550249;17387175 132112 P59025 ABBA01058376;AC007920;AMYH01013741;AY562235;BC034744;BC065202;CH471052;NM_153708 AAH34744;AAH65202;AAT70680;ABM81733;ABM84888;EAW78155;NP_714919;P59025 Hs.518480 2113734 AB070181 MGC35450 OTTHUMP00000195022;receptor transporter protein 1;receptor transporting protein 1;receptor-transporting protein 1 protein-coding ENSG00000175077 28580 16449 609137 VALIDATED 1606102 RTP2 receptor (chemosensory) transporter protein 2 3 3 3 q27.3 185847022 185851326 - 188898741 188903039 - 187416047 187420345 - 15550249;16720576;16271481;15489334;12477932;17207965;23284291 344892 Q5QGT7 ABBA01058367;AC072022;AMYH01013747;AY562236;BC068081;CH471052;NM_001004312 AAH68081;AAT70681;ADQ32015;EAW78144;NP_001004312;Q5QGT7 Hs.567872 5015183 SHGC-152548 MGC78665 OTTHUMP00000209924;receptor transporter protein 2;receptor transporting protein 2;receptor-transporting protein 2 protein-coding ENSG00000198471 32486 12371 609138 VALIDATED 1353966 RTP3 receptor (chemosensory) transporter protein 3 3 3 3 p21.3 46477225 46480179 + 46514489 46517443 + 46539485 46542439 + 1580863;6480464 16720576;17693185;16271481;15550249;11896456;12477932;20175129 83597 Q9BQQ7 ABBA01024713;AC098613;AJ312776;AMYH01013131;AY562237;BC131756;CH471055;NM_031440 AAI31757;AAT70682;CAC37401;EAW64768;NP_113628;Q9BQQ7 Hs.196584 2107675 TMEM7__5096 LTM1;TMEM7 OTTHUMP00000164717;receptor transporter protein 3;receptor transporting protein 3;receptor-transporting protein 3;transmembrane protein 7 protein-coding 15572 06214 607181 PROVISIONAL 1605965 RTP4 receptor (chemosensory) transporter protein 4 3 3 3 q27.3 185518026 185521231 + 188568862 188572066 + 187086168 187089372 + 6480464 16720576;16271481;15550249;15489334;12477932 64108 Q96DX8 ABBA01058371;AC068299;AJ251832;AMYH01013744;AY562238;BC013161;CA413859;CH471052;NM_022147 AAH13161;AAT70683;ABM81972;ABM85151;CAC14309;EAW78148;NP_071430;Q96DX8 Hs.43388 2181159 STS-N23400 IFRG28 28 kDa interferon-responsive protein;28kD interferon responsive protein;OTTHUMP00000209925;receptor transporter protein 4;receptor transporting protein 4;receptor-transporting protein 4 protein-coding 23992 17136 609350 VALIDATED 1316714 RUNDC1 RUN domain containing 1 17 17 17 q21.31 37788833 37801969 + 38386108 38399233 + 41132582 41145707 + 737633;6480464 12477932 14702039;16751776;22505724;22797925 146923 K7EQS2;Q96C34 ABBA01006395;AC055866;AK055627;AL831813;AMYH01008400;AY189284;BC014873;BC039247;CA445450;CH471152;DC391927;DQ581830;NM_173079 AAH14873;AAH39247;AAO86728;CAD38528;EAW60907;EAW60908;NP_775102;Q96C34 Hs.632255 1689648;2148404;5014051;5015861;5020740;5022200;5022651;5037552;7185938 D10S16;D11S2921;D8S2278;D8S2279;L17809;L18426;RH47209;SHGC-32804 DKFZp761H0421 RUN domain-containing protein 1 protein-coding ENSG00000198863 25418 15283 VALIDATED 1315475 RTTN rotatin This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013] 18 18 18 q22.2 64518916 64720330 - 65822020 66023942 - 67671040 67872962 - 6480464 14702039;12477932;11900971;19850743;21139048;21906983;22939636;19948479;23314748 25914 C9JTR3;J3KSV7;J3KT00;J3KTD2;Q9UFJ4 ABBA01056289;ABBA01056290;AC011930;AC021701;AK096404;AK126538;AK128137;AK129866;AL117635;AMYH01009076;BC007359;BC013774;BC026879;BC046222;BC046931;BC047602;BC143723;BF507420;CH471117;CR749799;NG_033104;NM_173630 AAH07359;AAH26879;AAH46222;AAH47602;AAI56292;BAC86583;BAC87292;CAB56025;CAH18659;EAW66516;EAW66517;EAW66518;EAW66519;EAW66520;EAW66521;NP_775901;Q86VV8 Hs.654809 1657372;1658659;1659257;1671977;2109787;2146381;2174554 A003N15;AFMB277XC5;D18S1330;G18023;IB2403;RH11790;RTTN_9430 DKFZp434G145;FLJ26356;FLJ39085;PMGYS rotatin APPROVED protein-coding ENSG00000176225 18654 11525 610436;614833 REVIEWED 1353142 RUNDC2A RUN domain containing 2A 16 16 16 p13.13 12244630 12321783 + 11978103 12054642 + 12070602 12147141 + 737633 12477932 14702039;8889548;19773279 84127 AC007216;AC007601;AK022425;BQ185857;NM_032167 BAB14033;NP_115543;Q9HA26 Hs.458401 1648300;1678217;2154889 D16S3015;SHGC-1353;WI-3711 FLJ12363 OTTHUMP00000160262;RUN domain-containing protein 2A protein-coding 25711 07767 VALIDATED 1312074 RUFY2 RUN and FYVE domain containing 2 10 10 10 q21.3 63377878 63442409 - 69773281 69837057 - 70103275 70167051 - 1580863;6480464 15164054;14702039;12477932;11877430;10819331;16385451;17207965;18029348;21900206;16344560;22505724;22797925 55680 B4DFR0;H0YD93;Q5TC51;Q8WXA3 AB040970;ABBA01019562;ABBA01019563;ABBA01019564;ABBA01019565;AC016395;AF411980;AF461266;AK055646;AK091629;AK094214;AK127019;AK294211;AL136233;AMYH01002800;AMYH01002801;AMYH01002802;AY528716;BC020659;BC030097;BC041092;BC062660;BG681628;BM150360;BQ006812;CH471083;DA858392;NM_001042417;NM_001278225;NM_017987;NR_103475;NR_103476 AAH41092;AAL04164;AAL67520;AAT44401;ADQ32994;BAA96061;BAG54424;BAG57521;EAW54290;EAW54291;EAW54292;EAW54293;EAW54294;EAW54295;NP_001035882;NP_001265154;NP_060457;Q8WXA3 Hs.653144 1654729;1671917;1673063;1685241;2149800;2184226 D10S1858;RH11294;RH99237;WI-11265;WI-15945;WI-20727 FLJ10063;KIAA1537;RABIP4R;ZFYVE13 OTTHUMP00000019704;RUN and FYVE domain-containing 2;RUN and FYVE domain-containing protein 2;Run- and FYVE-domain containing protein;antigen MU-RMS-40.17;rab4-interacting protein related protein-coding ENSG00000204130 19761 11526 610328 VALIDATED 1312929 RUFY1 RUN and FYVE domain containing 1 This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 5 5 5 q35.3 174612171 174665953 + 178910177 178969625 + 178977562 179037027 + 1580863;6480464;6907045 16344560;15489334;15342556;14702039;14617813;12477932;11877430;11172003;20534812;9050988;22863883;22939629;17233583;21139048;21906983;22558309;22911880;22797925 80230 A8K7B1;H0Y9Y8;H0YA47;H0YAC8;J3KPP6;Q96T51 AB209507;ABBA01010021;ABBA01010022;ABBA01010023;ABBA01010024;ABBA01010025;ABBA01010026;AC136604;AF312367;AF361055;AK025904;AK075021;AK093848;AK291926;AMYH01015954;AMYH01015955;BC016564;BC032571;BP358497;BQ014374;BQ014980;CB988835;CH471165;DA648204;DA811890;DA925727;NG_031967;NM_001040451;NM_001040452;NM_025158 AAH32571;AAK50771;AAQ14554;ADZ15938;BAB15276;BAD92744;BAF84615;BAG52773;EAW53810;NP_001035541;NP_001035542;NP_079434;Q96T51 Hs.306769 1677116;2130779;5014051;5015867;5016478;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;GDB:312714;GDB:434012;L18426;RH99066;SHGC-13723 FLJ22251;RABIP4;ZFYVE12 FYVE-finger protein EIP1;OTTHUMP00000161521;OTTHUMP00000223249;OTTHUMP00000223250;OTTHUMP00000223251;OTTHUMP00000223301;RUN and FYVE domain-containing 1;RUN and FYVE domain-containing protein 1;la-binding protein 1;rab4-interacting protein;zinc finger FYVE domain-containing protein 12 APPROVED protein-coding ENSG00000176783 19760 15282 610327 REVIEWED 1602820 RUFY4 RUN and FYVE domain containing 4 2 2 2 q35 212667545 212721497 + 218646285 218663108 + 218899657 218955304 + 12477932;16344560 285180 C9J235;Q6ZNE9 ABBA01006023;ABBA01006024;ABBA01023877;AC010136;AC124768;AK128393;AK131246;AMYH01011494;AW452848;BC113712;BX641664;CH471063;DA958158;NM_198483;NR_034176 AAI13713;ADR82969;BAC87417;EAW70588;NP_940885;Q6ZNE9 Hs.570069 1768115;1778518;2135246 RH69171;SHGC-35278;STS-L19593 FLJ46536 OTTHUMP00000207524;RUN and FYVE domain-containing protein 4 protein-coding ENSG00000188282 24804 13539 VALIDATED 1604831 RUFY3 RUN and FYVE domain containing 3 4 4 4 q13.3 68927653 69031337 + 71806560 71891789 + 71570654 71674336 + 6480464 15489334;15342556;14702039;12477932;10048485;16169070;17439943;16344560;20376209;21832049 22902 B4DKC2;D6RCQ1;D6REM9;D6RH24;H0Y8G6;H0Y8I0;Q7L099 AA987739;AB020678;ABBA01022937;ABBA01022938;ABBA01022939;ABBA01022940;ABBA01022941;AC009570;AC021989;AF112221;AK000911;AK294421;AK296501;AK302637;AMYH01014282;AMYH01014283;BC051716;BC053837;BC071988;BC098433;BE670566;BM920380;BP202281;BU622102;CH471057;DA015234;DA248021;DB051039;DB482497;DB483639;NM_001037442;NM_001130709;NM_014961 AAF17208;AAH51716;ABZ92309;BAA74894;BAG50837;BAG57670;BAG59134;BAG63879;EAX05629;EAX05630;NP_001032519;NP_001124181;NP_055776;Q7L099 Hs.743966 1652937;1690081;1700300;1777790;1784990;2128883;2128885;2164879;2179814;2186979;5111107 A002A32;D4S2538E;D4S2562E;G19859;RH103769;RH11635;RH12424;RH36129;RH45149;SHGC-112396;SHGC-34593 KIAA0871;RIPX;SINGAR1 OTTHUMP00000160358;OTTHUMP00000160359;OTTHUMP00000219124;OTTHUMP00000219126;protein RUFY3;rap2 interacting protein x;rap2-interacting protein x;singar;single axon-regulated protein;single axon-related 1 protein-coding ENSG00000018189 30285 15251 611194 VALIDATED 1605704 RUNDC3A RUN domain containing 3A 17 17 17 q21.31 39094632 39104744 + 39741490 39750764 + 42385927 42396038 + 6480464 17207965;9523700;16713569;16344560;16189514;12477932;9110174;8619474;8125298 10900 Q59EK9 AB209802;ABBA01028378;AC003043;AF055026;AK123330;AK226045;AK313669;AL133657;AMYH01008416;BC006194;BC013240;BX537443;CH471178;CR456748;DA299778;NM_001144825;NM_001144826;NM_006695;U93871 AAB68767;AAC09366;AAH06194;ADQ31763;BAD93039;BAG36421;CAB63771;CAD97685;CAG33029;EAW51608;EAW51609;EAW51610;EAW51611;EAW51612;NP_001138297;NP_001138298;NP_006686;Q59EK9 Hs.500197 1674294;1734462;1760169;1849288;2109775;2121176;2122770;5015961;5022322;5024761;5491264 A002T21;D11S2560;D15S1477;D17S1390E;D17S1429E;MARC_6791-6792:992007464:1;RH36905;RPIP8_9191;SHGC-132440;SHGC-31857;SHGC-31863 RAP2IP;RPIP-8;RPIP8 OTTHUMP00000240596;OTTHUMP00000240597;RUN domain-containing protein 3A;RaP2 interacting protein 8;rap2-interacting protein 8 protein-coding ENSG00000108309 16984 16106 605448 VALIDATED 1601714 RUNDC3B RUN domain containing 3B 7 7 7 q21.12 81962343 82166173 + 87095665 87297691 + 87257729 87461613 + 6480464 15986426;14702039;12690205;12645870;12477932;19913121;20628086;21900206;22846052 154661 Q96NL0 AACC02000015;ABBA01045864;ABBA01045865;ABBA01045866;AC002457;AC003083;AK055233;AK091536;AK293607;AK294039;AMYH01017669;AMYH01017670;AY033596;BC022520;CH236949;CH471091;DC304423;NM_001134405;NM_001134406;NM_138290 AAH22520;AAK52313;BAB70882;BAC03686;BAG57071;BAG57391;EAL24172;EAW76936;EAW76937;EAW76938;EAW76939;NP_001127877;NP_001127878;NP_612147;Q96NL0 Hs.411488 1704274;1776871;2169371;2177344;2219650;5023733 AU048745;D7S1642;D7S2414;GDB:6028578;RPIB9__5525;SHGC-83275 FLJ30671;MGC26655;RPIB9;RPIP9 OTTHUMP00000161662;OTTHUMP00000205532;OTTHUMP00000205533;RPIP-9;RUN domain-containing protein 3B;Rap2 binding protein 9;Rap2-binding protein 9;Rap2-interacting protein 9 protein-coding ENSG00000105784 30286 15274 VALIDATED 1344056 RUNX1-IT1 RUNX1 intronic transcript 1 (non-protein coding) 21 21 21 q22.12 21609739 21611240 - 35332610 35333811 - 36410222 36411723 - 6480464 16780588;14702039;12477932;10830953 80215 Q9H7H1 ABBA01057369;AF015262;AK024509;AMYH01012218;AW001989;BC117305;NG_011402;NR_026812 BAB14918;Q9H7H1 Hs.672131 2220590 UniSTS:485676 C21orf96;FLJ20856 APPROVED miscrna 16623 VALIDATED 1348975 RUNX2 runt-related transcription factor 2 This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2008] 6 6 p21 45404032 45626797 + 45296054 45518819 + 1580863;1601649;2302137;6480464;6484113;7240710;5143919 9182765;16322555;18061509 21713451;22095611;22351759;22095691;21542013;22173721;22189971;21520068;17215250;22194205;22389001;12477932;12434156;12393937;12391164;12270142;12231506;12196916;12162506;12145311;12145308;12112004;12088880;12081718;12060751;11979975;11968014;11857736;11768584;11683913;11668178;11641401;11274169;10980549;10962029;10699973;10689183;10545612;10531362;10521447;10521292;10330183;10228168;9794229;9651525;9434946;9233771;9207800;9182764;8362902;8341710;7835892;7717404;18541707;9119228;12551949;23093845;9182762;11965546;12145306;12217689;19453496;19453261;19424741;19342447;19259136;19116917;19020999;19017541;18986983;18931939;18829534;18829486;18777095;18688176;18653765;18553107;18482578;18442887;18438928;18391951;18381576;18373722;18357615;18321663;18319563;18316777;18223689;18171674;18166138;18082140;17997710;17981598;17973689;17956871;17878995;17702747;17522365;17438369;17434448;17387386;17379770;17360627;17352650;17350616;17251981;17171635;17042739;17000892;16613856;16598384;16476422;16467978;16463420;16442859;16418782;16407259;16299379;16270353;16244783;16237704;16208410;16198163;16187316;16166639;16110492;15933061;15864279;15838892;15798204;15750689;15725473;15665096;15623533;15583032;15537544;15476590;15389579;15304489;15292260;15273700;15262978;15231660;15225881;15193550;15150273;15146197;15051730;14739291;14671302;14639470;14574404;14523023;12815605;12750290;12746842;12732182;12697832;12674332;12631081;12615658;12568398;12554794;20560987;20053387;20376792;20465837;16421932;18029348;18759297;19147956;19383984;19389811;19422937;19509141;19509297;19515746;19631773;19632824;19649655;19690135;19734454;19739101;19744171;19767586;19801668;19880526;19915614;19949374;20007706;20082269;20097749;20160071;20306685;20379614;20407796;20433876;20525800;20200969;20683987;20946121;21078438;20073986;20225274;19595020;20082326;20530675;20634891;20648631;20721706;16728531;20863401;21088106;16195230;20301686;20665663;20564243;20702542;20738756;20740684;15990875;20593410;21505104;20872798;21040462;21121067;22139789;22396198;22634173;22821892;22869368;22260235;21236710;21649908;21559363;21777514;19594294;20851880;21215027;21558934;21674037;21972143;21986102;21302301;21604327;21907184;20196777;21885439;21913213;22147940;22241686;22318606;22393235;22537242;22903460;22949168;23186169;23321257;21906983;22102412;21131390;21931630;22407027;22511796;23000965;23290074;19585539;21809344;22158627;22023169;16079911;16728642;21402695;21600649;22158061;22493443;15331439;10911365;23389849;23471668;22699663;22750373;22912713;18160010;22032690;22505724;22890388;22966907;22641097 860 F6RGB9;F8W8U5;I3L0L0;I3L354;I3L4L9;Q13950;Q5T802 ABBA01050629;ABBA01050630;ABBA01050631;AF001443;AF001444;AF001445;AF001446;AF001447;AF001448;AF001449;AF001450;AF053949;AF053952;AF087960;AL096865;AL161907;AL353944;AL358135;AL513219;AMYH01016325;AW469546;AY406695;BC108919;BC108920;BX108677;CD001961;CH471081;CN431726;DR005078;L40992;NG_008020;NM_001015051;NM_001024630;NM_001278478;NM_004348;NR_103532;NR_103533 AAA89072;AAB65158;AAB65159;AAC77441;AAC78624;AAI08920;AAI08921;AAI60022;EAX04277;EAX04278;EAX04279;EAX04280;EAX04281;EAX04282;NP_001015051;NP_001019801;NP_001265407;NP_004339;Q13950 Hs.535845 1657941;1660768;1669860;1713705;1752821;1752969;1762367;1780478;1792412;1792658;1797226;2114346;2121365;2147987;2152951 D6S1460;PMC150810P1;PMC156282P1;RH120734;RH16435;RH37568;RH77889;Runx2;SHGC-106694;SHGC-106818;SHGC-146198;SHGC-56456;SHGC-56693;WI-17995;stbA90G6T7 AML3;CBF-alpha-1;CBFA1;CCD;CCD1;CLCD;MGC120022;MGC120023;OSF-2;OSF2;PEA2aA;PEBP2A1;PEBP2A2;PEBP2aA;PEBP2aA1 CBF-alpha 1;CBF-alpha-1;OSF-2;OTTHUMP00000016533;OTTHUMP00000016534;OTTHUMP00000016535;PEA2-alpha A;PEBP2-alpha A;SL3-3 enhancer factor 1 alpha A subunit;SL3/AKV core-binding factor alpha A subunit;acute myeloid leukemia 3 protein;core-binding factor subunit alpha-1;core-binding factor, runt domain, alpha subunit 1;oncogene AML-3;osteoblast-specific transcription factor 2;polyomavirus enhancer binding protein 2 alpha A subunit;polyomavirus enhancer-binding protein 2 alpha A subunit;runt-related transcription factor 2 1643399 BMD5_H APPROVED protein-coding ENSG00000124813 10472 02566 119600;156510;600211 REVIEWED 736526 RUNX1 runt-related transcription factor 1 Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.3 35081968 35343465 - 36160098 36421595 - 1580863;2303708;2302137;6480464;6482840;1304428;6482837;6482829;6482832;6482833;6482836;6482828;6482827;6482839;6482834;6482826;6482835;6907045;7240710;5143919 17845203;16322555;18087673;12937148;16821265;20946940;18000159;12760263;20018071;21822204;22216140;18328148;12560229;22551552;21803869;18061509 22163048;22542470;22094587;22076464;10207087;11965546;14970218;8565077;8622955;9199349;7862156;19453261;19403666;19357396;19351817;19334039;19328795;19282830;19179469;19167608;19158815;19151769;19144660;19129484;19114653;19100516;19100510;19043539;19020999;19001502;18952841;18925961;18853425;18790797;18767146;18767145;18728978;18724045;18723428;18695000;18687690;18687517;18671852;18668679;18663147;18656694;18635414;18622412;18548094;18539581;18519037;18511808;18487507;18478040;18462252;18445843;18337762;18332109;18316480;18276842;18206548;18206538;18202291;18202228;18192504;18183572;18166807;18003885;17996649;17989718;17975013;17956600;17935781;17910630;17894555;17889714;17889709;17854666;17690704;17684492;17673463;17650443;17625612;17589498;17560011;17550866;17533375;17532767;17485549;17394134;17377532;17285576;17234761;17213321;17095626;17079875;17072347;17043020;17017876;17015828;16914570;16964375;16892559;16888092;16803898;16741927;16684349;16674921;16673018;16652416;16652147;16652140;16628190;16627249;16616331;16598304;16519819;16474840;16442267;16386788;16314494;16307024;16287839;16278392;16249223;16237704;16213368;16177090;16149049;16102112;16042694;15991223;15970674;15968309;15914564;15856017;15829516;15741216;15735013;15728845;15723339;15705784;15704129;15688019;15654961;15618958;15613106;15489901;15475366;15386419;15339695;15333839;15302935;15203865;15184985;15179033;15142881;15142876;15104290;15104277;15061191;15051730;14966519;14752096;14747476;14703694;14702039;14623259;14615365;14562119;14561740;14525764;14523475;12917624;12874780;12773394;12699896;18768464;9447981;12460926;10531362;1427868;1423235;12604126;12576332;12557226;12555067;12554803;12526921;12496475;12495904;12477932;12393679;12393523;12393286;12377125;12356919;12352981;12217689;12200707;12091359;12082641;12072207;12060124;12002768;11986950;11979742;11921279;11830488;11792409;11742995;11641401;11276260;11274169;11203699;11118213;10856244;10830953;10825294;10713153;10675041;10545320;10521447;10508512;10455134;10404214;10228168;10068652;9751710;9119228;8889548;8700862;8634147;8622667;8490181;8413232;8395054;8353289;8334990;8313895;7919324;7891692;7835892;7795214;7780150;7761424;7651838;7541640;7533526;1720541;1560822;12643014;22145956;22498736;21148331;21109770;21343560;20430957;20682397;20439113;16702405;16917507;17431401;18029348;19337732;19387465;19448675;19458628;19494111;19524548;19603429;19626042;19638627;19665068;19666867;19773259;19808697;19850737;19896186;19917773;19946261;19998443;20001241;20008790;20035012;20111069;20124335;20181616;20195544;20206228;20306685;20308320;20346360;20379614;20421268;20460523;20520634;20547749;14729951;21054152;21468021;18928518;19581587;20722699;21090242;20339092;19322702;20306249;20506188;16046550;20686504;19454010;20807887;20970160;21029724;20197715;20589720;20190817;19913121;20520637;20628086;20678218;20735389;20395453;20846103;21059642;20880116;21070662;21088106;22865593;22919028;23028138;20688956;20855863;21233836;21642993;21129147;21292764;20236534;20603019;21076613;21057539;21204219;21252065;21325596;10882117;18073335;21200020;22995345;23372166;23471304;22828445;21166663;21268063;21283084;21447743;21571218;21764752;21445863;21640801;20030931;21332713;21518930;21294243;23175372;21723253;21493867;21322790;21725049;22025082;22028862;21576367;19497860;21873977;21900195;23321257;23327922;21380778;22419089;19585539;21224468;21828118;21836608;21869842;22201794;22221250;22318203;21139048;21799513;21836606;21890473;22012064;22021368;22024923;22193545;20963938;21829377;22253733;22366949;22404039;19322201;22081516;15331439;18701449;22748822;17635584;22898599;23034403;23148227;15897867;23426948;23667531;23752268;22725134;17560331;21150319;23000965;23086478;22777353;23352661;22673192;23254331;23022380;23350231;23223432;23528260;22430633;22753902;22032690;22505724;22343733 861 A8MZI9;C9JWM1;F5H139;H9KVB1;Q16122 AA878154;ABBA01057369;AF015262;AF025841;AJ229043;AK226159;AK310587;AL581043;AMYH01012216;AMYH01012217;AMYH01012218;AP000330;AP000331;AP000332;AP000333;AP000334;AV761975;BC050363;BC110828;BC136380;BC136381;BC144053;BM149149;BX475024;CA503244;CD638998;CH471079;D10570;D43967;D43968;D43969;D89788;D89789;D89790;L34598;NG_011402;NM_001001890;NM_001122607;NM_001754;S60998;S76345;S76346;S76350;U19601;X79549;X90976;X90977;X90979 AAA51720;AAB33729;AAB33730;AAB33731;AAB51691;AAC05246;AAC05247;AAI10829;AAI36381;AAI36382;AAI44054;BAA01426;BAA07902;BAA07903;BAA07904;BAA14020;BAA14021;BAA14022;CAA13070;CAA56092;CAA62464;CAA62466;EAX09769;EAX09770;NP_001001890;NP_001116079;NP_001745;Q01196 Hs.149261;Hs.612648 1336997;1340372;1674019;1677660;1680665;1689662;1690137;1690380;1695940;1696650;1723315;1730660;1730859;1734378;1741805;1759885;1793086;2116365;2135020;2136897;2152760;2163890;2180890;2184445;2186958;2218598;2220590 D21S1706;D21S1895;D21S1921;D21S1969;D21S326;D21S393;G34658;G34720;GDB:185177;PMC19472P9;RH118473;RH27207;RH81059;RH92717;RH98631;RUNX1_4181;SHGC-170125;SHGC-51918;SHGC-52097;SHGC-52137;SHGC-6871;SHGC-6907;SHGC-78899;SHGC-82960;SHGC-87606;SHGC-87612;UniSTS:485676 AML1;AML1-EVI-1;AMLCR1;CBFA2;EVI-1;PEBP2aB AML1-EVI-1 fusion protein;CBF-alpha-2;OTTHUMP00000108696;OTTHUMP00000108697;OTTHUMP00000108699;OTTHUMP00000108700;OTTHUMP00000108702;PEA2-alpha B;PEBP2-alpha B;SL3-3 enhancer factor 1 alpha B subunit;SL3/AKV core-binding factor alpha B subunit;acute myeloid leukemia 1 protein;aml1 oncogene;core-binding factor subunit alpha-2;core-binding factor, runt domain, alpha subunit 2;oncogene AML-1;polyomavirus enhancer-binding protein 2 alpha B subunit;runt related transcription factor 1;runt-related transcription factor 1 APPROVED protein-coding ENSG00000159216 10471 01043 151385;601399;601626 REVIEWED 6481294 RUVBL1-AS1 RUVBL1 antisense RNA 1 100874089 AC011311 APPROVED miscrna 40514 1351530 RUNX3 runt-related transcription factor 3 This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36 25098589 25164088 - 25226002 25291501 - 1580863;2302556;2302137;2302552;2302557;2302553;2302554;2302551;2302555;2324957;2324955;2324956;2324958;6480464;5143919 18937968;16322555;16080503;18256927;16230397;16818622;15386381;15471559;19827872;18475302;19763613;18061509 22076387;7835892;9751710;7607690;7622058;18029348;19470943;19403666;19336521;19290488;19223906;19174785;19159630;19015875;19012242;18949360;18850007;18772112;18717361;18684727;18676844;18668679;18663147;18639281;18580070;18572225;18500170;18494051;18430739;18349282;18323800;18288406;18259121;18097595;18058463;17956589;17923751;17914577;17606310;17591929;17591800;17584746;17471240;17470130;17384682;17195845;16984612;16887969;16767156;16652147;16627973;16582583;16442267;16373335;16367921;16344560;16328045;16234815;16155404;16142337;16140942;16135801;16091737;15824739;15819721;15780064;15778373;15728469;15688019;15489334;15386419;15273736;15138260;15051926;14760761;14715269;14702039;12907736;12875960;12855590;12824905;12477932;11955451;11733147;16710414;16684349;8437866;10531362;10228168;17353931;22734230;22275124;22296371;22544322;20492341;20682997;17380460;18426645;18636364;18953836;19521519;19552756;19571605;19596937;19603429;19645591;19695681;19706291;19728008;19800882;19886737;19917773;19933870;20100835;20190752;20228843;20306685;20353948;20392673;20442291;21288908;20160714;20599712;20677014;20211142;20887385;21088106;20955380;20801098;20676134;20631058;20615577;21105967;21205092;21109941;21135153;21205319;21302620;19808967;21567090;21640801;19727221;22246363;22576578;22846564;21656750;20236534;21637926;21223798;21128246;21612813;22274925;21223819;20300977;20714105;21254652;19351720;21523770;21658745;21922326;21803306;21942099;21819494;21867527;22068036;21511279;21906983;21914347;22580604;21567391;22253448;22231444;21354923;21678419;21756810;20467438;23000965;23086478;23104301;21706051;22311819;21781566;22234069;22179198;21743469;21956756;22266963;21873791;22479382;22318606;22457727;22699781;15331439;22729835;23294722;23266558;22883670;22505724;23401011;22488108 864 F5H4J4;Q13761 ABBA01059922;ABBA01059923;AF022726;AI375031;AJ001432;AJ238394;AK091829;AK300056;AK301044;AK310945;AL023096;AL445471;AMYH01000378;AMYH01000379;BC013362;CH471134;CQ834770;DA935726;FB571463;FB571465;HI574042;HI574044;NM_001031680;NM_004350;U14520;X79550;Z35278;Z38104;Z38108 AAA86465;AAB80759;AAH13362;BAG61865;BAG62657;CAA56093;CAA84541;CAB42882;CAH05600;CAR95149;CAR95150;CBX47510;CBX47511;EAW95147;EAW95148;EAW95149;NP_001026850;NP_004341;Q13761 Hs.170019 1664676;1715299;1733150;2180389 D1S1460;RH120480;RH70984;SHGC-74399 AML2;CBFA3;FLJ34510;MGC16070;PEBP2aC CBF-alpha-3;OTTHUMP00000003370;OTTHUMP00000003371;PEA2 alpha C;PEA2-alpha C;PEBP2 alpha C;PEBP2-alpha C;SL3-3 enhancer factor 1 alpha C subunit;SL3/AKV core-binding factor alpha C subunit;acute myeloid leukemia 2 protein;acute myeloid leukemia gene 2;core-binding factor subunit alpha-3;core-binding factor, runt domain, alpha subunit 3;oncogene AML-2;polyomavirus enhancer-binding protein 2 alpha C subunit;runt-related transcription factor 3;transcription factor AML2 APPROVED protein-coding ENSG00000020633 10473 02565 600210 REVIEWED 1346086 RVNP2 retroviral sequences NP2 3600636 6255 M15971 protein-coding 10476 1603516 RUSC1-AS1 RUSC1 antisense RNA 1 1 1 1 q22 128363393 128367080 - 153556875 153560562 - 155290251 155293938 - 6480464 16710414;15489334;14702039;12477932 284618 Q66K80 ABBA01016711;AK093295;AK125510;AL139410;AMYH01001427;BC062571;BC080538;BC131614;NM_001039517 AAH62571;AAH80538;AAI31615;BAC04124;NP_001034606;Q66K80 Hs.650801;Hs.732744 1684122;1684972;2180657 D15S1171;RH68206;SHGC-2651 C1orf104;FLJ35976;RP11-21N7.3 RUSC1 antisense RNA 1 (non-protein coding);RUSC1 antisense gene protein 1;hypothetical protein LOC284618;putative uncharacterized protein RUSC1-AS1 APPROVED protein-coding 26680 08767 PROVISIONAL 1354057 RWDD1P1 RWD domain containing 1 pseudogene 1 15 q25.1 78674915 78675542 + 404551 ABBA01060584;AC011270;AMYH01006833;NG_028864 pseudo 31055 INFERRED 1343850 RWDD1P3 RWD domain containing 1 pseudogene 3 12 12 12 q21.2 76816657 76817556 + 75675104 75676003 + 77150873 77151972 + 727789 ABBA01053541;AC093014;AMYH01004601;NG_008052 1690894 RH80029 RWDD1L1 APPROVED pseudo 31794 INFERRED 1351272 RUSC2 RUN and SH3 domain containing 2 This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012] 9 9 9 p13.3 35421999 35495454 + 35480124 35551889 + 35490007 35561895 + 6480464 17081983;16344560;15796781;15489334;12477932;9205841;16169070;17137291;20029029;22745667;15375525;21737958 9853 Q8N2Y8 AB002373;ABBA01064991;ABBA01064992;AI818507;AK299805;AL133476;AMYH01019345;AMYH01019346;BC029647;BC064843;BC082245;BC132766;BC132770;BC146654;BC150211;BC150262;BX647690;CH471071;DA185385;DB458531;NM_001135999;NM_014806;NR_052015 AAH29647;AAH64843;AAH82245;AAI32767;AAI32771;AAI46655;AAI50263;BAA20830;BAG61680;EAW58377;NP_001129471;NP_055621;Q8N2Y8 Hs.493796 1652385;2107559;2157817 HSC03D022;RUSC2__6898;WI-14686 Iporin;KIAA0375 OTTHUMP00000021331;RUN and SH3 domain-containing protein 2;interacting protein of Rab1;iporin APPROVED protein-coding ENSG00000198853 23625 18009 611053 REVIEWED 1349680 RUSC1 RUN and SH3 domain containing 1 1 1 1 q21-q22 128363782 128374051 + 153557264 153567533 + 155290640 155300909 + 1580863;6480464 10760598;19365808;16344560;16303743;15489334;15024033;14702039;12477932;18029348;21832049;21139048;21906983;22404429;15146197;21963094;22821014 23623 B3KWM9;Q5T9V0;Q9BVN2 AB026894;ABBA01016710;ABBA01016711;AK055451;AK074485;AK074982;AK093777;AK125378;AK298730;AK307736;AK314559;AL080083;AL139410;AMYH01001427;BC001045;BC004293;BC025680;BC028055;BC052277;BC131492;BQ004124;BX402179;BX640612;CH471121;CN305634;CQ783792;CR749671;DA099897;DA131200;DA751328;NM_001105203;NM_001105204;NM_001105205;NM_001278227;NM_001278228;NM_001278229;NM_001278230;NM_014328;NR_103478 AAH01045;AAH04293;AAH52277;ABM84548;ABM86311;BAA77507;BAG37144;BAG52045;BAG54191;BAG60880;CAB45702;CAE45718;CAF86864;CAH18462;EAW53069;EAW53070;EAW53071;EAW53072;NP_001098673;NP_001098674;NP_001098675;NP_001265156;NP_001265157;NP_001265158;NP_001265159;NP_055143;Q9BVN2 Hs.226499 1683948;1684122;1684972;2109789;2145104;2170595;2180657;5124507 D15S1171;RH12028;RH68206;RH79692;RH91444;RUSC1_9384;SHGC-2651;SHGC-32326 DKFZp761A1822;NESCA OTTHUMP00000015809;OTTHUMP00000015893;OTTHUMP00000015894;OTTHUMP00000015895;OTTHUMP00000015896;RUN and SH3 domain-containing protein 1;new molecule containing SH3 at the carboxy-terminus protein-coding ENSG00000160753 17153 10206 VALIDATED 1350261 RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 8 8 q22 93040328 93176619 - 92967195 93115454 - 6480464;6907045 16966434;17353931;9618262;19289505;19179469;19100510;19043539;19001502;18952841;18687517;18586123;18548094;18519037;21764752;18258796;18205948;18183572;18156164;18039847;17996649;17989718;17875504;17625612;17560011;17284535;17244680;17058450;16990610;16892037;16741927;16713569;16652140;16616331;16502583;16189514;15829516;15735013;15723339;15676213;15489334;15377655;15333839;15298716;15295650;18332109;14751048;14703694;14551142;12874834;12773394;12557226;12477932;12427969;12393523;11986950;11983111;11869944;11593431;11591653;11533236;11150306;11113190;11090081;10973986;10951564;10861016;10688654;10675041;10076566;9790752;9661669;9632137;8781439;8575770;8353289;8334990;8137293;7919324;7541640;1423235;1391946;12460926;14982881;15203865;22498736;7774816;12242670;20430957;20487545;16344560;15109542;17649722;19448675;19458628;20090777;14702039;19581587;8619474;9110174;20708017;16227606;20211142;20688956;17389244;20603019;21499216;10882117;21200020;9819405;22995345;21245488;18073335;21540640;21571369;22201794;22025082;22101339;17572682;23223432;23426948;22343733 862 B2R6I9;E5RFQ3;E5RG85;E5RH30;E5RH72;E5RHJ8;E5RI38;E5RJ32;E5RJB3;E5RJE7;E5RK76;E7EQ59;E7EQI9;E7EQJ1;E7EQW3;E7EQW7;E7ERJ9;E7ESA9;E7ESL1;E7ETA8;E7EV92;E7EWJ9;E7EX23;H0YBA6;H0YC25;H0YC43;Q16347 AA506749;AB074982;ABBA01037421;ABBA01037422;ABBA01037423;AC103680;AC104339;AF018280;AF018282;AF018283;AF131817;AF181450;AF198490;AK057707;AK297616;AK312592;AL049240;AMYH01018880;BC005850;BC067078;BC139783;BT009871;CH471060;CR456792;D14289;D14821;D43638;DA499596;DA500281;DA503204;DA504975;DA770917;DA774453;DA776825;DA776968;DA777240;DA779230;DA787376;DA795825;DA796892;NG_023272;NM_001198625;NM_001198626;NM_001198627;NM_001198628;NM_001198629;NM_001198630;NM_001198631;NM_001198632;NM_001198633;NM_001198634;NM_001198679;NM_004349;NM_175634;NM_175635;NM_175636;S74096;X79990 AAB32126;AAC26143;AAC28931;AAC28932;AAC28933;AAC28934;AAG33024;AAH05850;AAH67078;AAP88873;ADZ15496;BAA03247;BAA03558;BAA07755;BAB88555;BAG35486;BAH12630;CAA56311;CAG33073;EAW91681;EAW91682;EAW91683;EAW91684;EAW91685;EAW91686;NP_001185554;NP_001185555;NP_001185556;NP_001185557;NP_001185558;NP_001185559;NP_001185560;NP_001185561;NP_001185562;NP_001185563;NP_001185608;NP_004340;NP_783552;NP_783553;NP_783554;Q06455 Hs.368431;Hs.739194 1335449;1652288;1665805;1667488;1671241;1672036;1673889;1676182;1709702;1717719;1718141;1742369;1788942;2119020;2135782;2146215;2161897;2170000;2180554;2180965;5016039;7186543 D8S1603;D8S1648;D8S1950;D8S1952;D8S270;G15975;G32207;GDB:196494;RH12051;RH121766;RH122838;RH45255;RH78563;RH80460;Runx1t1;SHGC-36696;SHGC-86338;STS-AA025270;UniSTS:225014;WI-13899;WI-17867 AML1T1;CBFA2T1;CDR;DKFZp564B213;ETO;FLJ33145;MGC2796;MTG8;MTG8b;ZMYND2 OTTHUMP00000225750;OTTHUMP00000225751;OTTHUMP00000225752;OTTHUMP00000225792;OTTHUMP00000225793;OTTHUMP00000225794;acute myelogenous leukemia 1 translocation 1, cyclin-D related;core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related;cyclin-D-related protein;eight twenty one protein;myeloid translocation gene on 8q22;protein CBFA2T1;zinc finger MYND domain-containing protein 2 APPROVED protein-coding ENSG00000079102 1535 00590 133435 REVIEWED 1314728 RWDD2A RWD domain containing 2A 6 6 6 q14.2 84336338 84339562 + 83959751 83962975 + 83903032 83906256 + 6480464 15489334;14574404;12477932;7829101 112611 B4DIQ3;Q9UIY3 ABBA01040449;AK295724;AK302978;AK309249;AK313083;AL049699;AMYH01016468;AW023870;BC010930;BC104816;BC112003;CH471051;DC377982;NM_033411 AAH10930;AAI04817;AAI12004;ABM83592;ABM87092;BAG35909;BAG58565;BAG64121;EAW48665;EAW48666;NP_219479;Q9UIY3 Hs.709686 2174543 WI-12506 MGC13523;MGC138208;RWDD2;dJ747H23.2 OTTHUMP00000016790;RWD domain containing 2;RWD domain-containing protein 2A protein-coding ENSG00000013392 21385 15287 VALIDATED 4144955 RWDD4P1 RWD domain containing 4 pseudogene 1 7 7 99747573 99748134 + 104941969 104942530 + 100419903 AACC02000004;ABBA01057956;AC004884;AMYH01017818;CH236947;NG_026613 FAM28BP pseudo 23753 INFERRED 4144515 RWDD4P2 RWD domain containing 4 pseudogene 2 7 7 7 p14.1 39880501 39883064 - 39858713 39861482 - 39892296 39894859 - 9847074 647009 AACC02000038;ABBA01058145;AC004987;AC093081;AMYH01017192;CH236951;NG_005562 AAQ96848 1686871;1689195 RH98944;SHGC-67782 FAM28CP pseudo 23754 INFERRED 68537 RUVBL1 RuvB-like 1 (E. coli) 3 3 q21 129282493 129325332 - 127799800 127842671 - 1580863;6480464;6907045 10966108;9843967;9813143;9588198;14966270;19524533;19270026;19048121;18765919;18548265;18463163;18358808;18285460;18087039;17157868;17060327;16344560;16230350;15647280;15635413;15489334;15196461;14702039;14695187;14675489;14615539;14506706;12963728;12477932;11839798;11827452;11080158;11027681;10902922;10882073;10524211;10428817;9774387;9196036;8125298;1602151;16169070;11509179;17353931;18922472;21145461;22544753;15829968;20371770;18029348;20211142;16510874;19845771;15960975;16387653;17148452;17643375;17761535;18834951;19299493;19450687;19620283;19877184;20412048;20635389;16055720;16510875;18026119;18218781;19394292;19433865;19454010;20801936;21303910;17636026;16196087;21617703;17573780;20130364;20332121;20603076;16014379;21182205;22863883;22939629;23002137;17314511;17342744;17721549;21825155;21139048;21532573;21549307;21890473;21906983;21320693;20800578;21110914;20473970;21628590;18457437;19410544;20360068;21081666;21900206;21933716;22079093;19471022;20080577;21907836;22318606;22467210;22895545;17725712;19380743;22174317;22190034;22337587;22797925;22923768;22952844 8607 E7ETR0;H7C4G5;H7C4I3;J3QLR1;Q9Y265 AB012122;AB451224;AB451347;ABBA01020888;ABBA01020889;AC069419;AF070735;AF099084;AF380344;AJ010058;AK092163;AK222563;AK222575;AK312290;AMYH01013461;AW069473;BC002993;BC012886;BT007057;CH471052;DA530328;DQ469310;NM_003707;Y18418 AAC77819;AAD04427;AAH02993;AAH12886;AAM45570;AAP35706;ABF13334;ABM82374;ABM85553;BAA28169;BAD96283;BAD96295;BAG35217;BAG52489;BAG70038;BAG70161;CAA08986;CAB46271;EAW79323;NP_003698;Q9Y265 Hs.272822 1683609;1793652;2108433;2166099 D3S4244;PMC24527P1;RH26475;RUVBL1_8836 ECP54;INO80H;NMP238;PONTIN;Pontin52;RVB1;TIH1;TIP49;TIP49A 49 kDa TATA box-binding protein-interacting protein;49 kDa TBP-interacting protein;54 kDa erythrocyte cytosolic protein;ECP-54;INO80 complex subunit H;NMP 238;OTTHUMP00000216127;OTTHUMP00000216128;RuvB (E coli homolog)-like 1;TAP54-alpha;TATA binding protein interacting protein 49 kDa;TIP60-associated protein 54-alpha;nuclear matrix protein 238;pontin 52;ruvB-like 1;ruvb-like protein 1 protein-coding ENSG00000175792 10474 09143 603449 VALIDATED 1319797 RXFP2 relaxin/insulin-like family peptide receptor 2 This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 13 13 q13.1 31211679 31275009 + 32313679 32377009 + 1580863;1600187;6480464 12217959 15579790;11809971;19416191;19416190;19416188;19416162;19416161;19279230;19017913;18772597;18434306;18073304;18063691;17473281;17437853;17028442;16963451;16926383;16867980;16507880;16051677;15956688;15708846;14656401;12970298;12506116;12114498;15649866;12036966;20636340;23024363;20560146;22737225;21789898;22973049;23539510 122042 Q8WXD0 ABBA01010128;AF403384;AF453828;AL138708;AL159161;AMYH01005019;AY899851;CH471075;NG_015819;NM_001166058;NM_130806 AAI46280;AAI48730;AAL69324;AAL73946;AAX85199;EAX08484;EAX08485;NP_001159530;NP_570718;Q8WXD0 Hs.680763 1713231;2112088 D13S1700;RH120605 GPR106;GREAT;INSL3R;LGR8;LGR8.1;RXFPR2 G protein coupled receptor affecting testicular descent;G-protein coupled receptor 106;G-protein coupled receptor affecting testicular descent;OTTHUMP00000018219;leucine-rich repeat-containing G protein-coupled receptor 8;leucine-rich repeat-containing G-protein coupled receptor 8;relaxin family peptide receptor 2;relaxin receptor 2 APPROVED protein-coding ENSG00000133105 17318 05976 606655 REVIEWED 1315165 RUVBL2 RuvB-like 2 (E. coli) This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008] 19 19 q13.3 54188968 54210994 + 49497156 49519182 + 1580863;6480464 18397884;10428817;10966108;10524211;14966270;11256614;19524533;19444951;19403135;19369355;19180575;18765919;18358808;17657734;17157868;16699503;16381901;16303743;16230350;16189514;16157330;15829968;15647280;15635413;15489336;15489334;15231747;15196461;14702039;14615539;12963728;12665801;12477932;11713276;11230166;11080158;11076863;10998447;10882073;10810093;12171929;16169070;11509179;11839798;17353931;18922472;21145461;22544753;20371770;15960975;16387653;17148452;17220478;17643375;19299493;19450687;19620283;19851296;19877184;20085707;20198315;20412048;20553504;16159877;16601686;18218781;19433865;19454010;20801936;21303910;20888340;20332121;20346530;20509972;20603076;16014379;21182205;22863883;22990118;18026119;18087039;17636026;21832049;22939629;23002137;20462248;23077236;17573780;20534441;22748767;21763315;20360068;19167051;21081666;21139048;21532573;21549307;21890473;21906983;21933716;21987572;22210892;15161933;16196087;17314511;17342744;17721549;17955473;18457437;18781797;21320693;19471022;20080577;22285491;20473970;21628590;17704809;20800578;21110914;22467210;19380743;21853274;22053931;22337587;22505724;22797925;22923768 10856 B3KQ59;M0QXI6;M0QXZ7;M0QYD8;M0R0Y3;M0R0Z0;Q9Y230 AB024301;ABBA01032950;ABBA01032951;ABBA01032952;AC008687;AF124607;AF151804;AF155138;AF401216;AK027762;AK057498;AK074542;AK301344;AL136743;AMYH01009908;BC000428;BC004531;BC008355;CH471177;CQ782490;CR533507;NG_033041;NM_006666;Y18417 AAD34041;AAD38073;AAF87087;AAH00428;AAH04531;AAH08355;AAL02172;ABM82318;ABM85494;BAA76708;BAC11048;BAG51374;BAG51921;BAG62892;CAB46270;CAB66677;CAF85776;CAG38538;CAL38511;EAW52426;EAW52427;EAW52428;EAW52429;EAW52430;EAW52431;NP_006657;Q9Y230 Hs.515846 1337492;1847990;2151237;5037552 A002E14;D19S879;D8S2279;RH47492 CGI-46;ECP51;INO80J;REPTIN;RVB2;TIH2;TIP48;TIP49B 48 kDa TATA box-binding protein-interacting protein;48 kDa TBP-interacting protein;51 kDa erythrocyte cytosolic protein;ECP-51;INO80 complex subunit J;Reptin52;RuvB (E coli homolog)-like 2;TAP54-beta;TBP-interacting protein, 48-KD;TIP60-associated protein 54-beta;erythrocyte cytosolic protein, 51-KD;repressing pontin 52;reptin 52;reptin52 protein;ruvB-like 2 APPROVED protein-coding 10475 16070 604788 REVIEWED 732573 RWDD1 RWD domain containing 1 6 6 6 q13-q22.33 117635653 117657505 + 116999276 117021131 + 116892583 116914438 + 6480464 16189514;18978678;15489334;15146197;14574404;12477932;10810093;8889548;22939629;15676025;21890473;22318606 51389 E5RGQ3;E5RGS5;E5RJE3;Q9H446 ABBA01026045;AF092134;AF132958;AI129713;AK290727;AK301089;AL121953;AMYH01016617;BC008693;BC012534;BC015802;BQ001584;CA422968;CF128570;CH471051;CN363729;NM_001007464;NM_015952;NM_016104 AAD27733;AAD40376;AAH15802;ABM83361;ABM83362;ABM83363;ABM86573;BAF83416;BAG62691;EAW48221;EAW48222;NP_001007465;NP_057036;NP_057188;Q9H446 Hs.532164 1690894 RH80029 CGI-24;PTD013 DRG family-regulatory protein 2;OTTHUMP00000017066;OTTHUMP00000227336;RWD domain-containing protein 1;small androgen receptor-interacting protein protein-coding ENSG00000111832 20993 15286 VALIDATED 1312868 RWDD2B RWD domain containing 2B 21 21 21 q22.11 15560812 15575163 - 29299951 29313563 - 30378080 30391685 - 6480464 16189514;15489334;14702039;12477932;10830953;10729227;8125298;16169070;17207965;20494980;21832049;21900206;21139048 10069 P57060;Q53FD2 ABBA01057247;AF129075;AF212232;AK000056;AK223357;AL163249;AL355726;AL355727;AMYH01012187;AMYH01012188;BC012546;BC017912;CH471079;NM_016940;Y19009 AAH12546;AAH17912;AAK14918;ADQ32121;BAA90913;BAD97077;CAB88085;CAB90431;EAX09930;EAX09931;EAX09932;NP_058636;P57060 Hs.744239 1700206;2142596;2178540;5125658 RH103719;RH41866;RH69471;SHGC-87535 C21orf6;GL011 OTTHUMP00000096475;RWD domain-containing protein 2B protein-coding 1302 10757 VALIDATED 1314557 RWDD3 RWD domain containing 3 1 1 1 p21.3 93954133 93967204 + 95472299 95485369 + 95699711 95712781 + 6480464 17956732;19407504;16710414;16381901;15489336;15489334;15146197;12477932;11230166;11076863;7566098;23508108;22009797;21139048;23362303 25950 D3DT49;E7ES73;Q9Y3V2 AA336253;AA336662;AA825527;ABBA01045499;AC092802;AK292665;AK292699;AK296476;AL050062;AMYH01000810;BC010936;BC016307;BC065813;BC125142;BU858771;BX537497;BX648581;CA454169;CH471097;CN306675;CR533493;DC409838;NM_001128142;NM_001199682;NM_001278247;NM_001278248;NM_015485;NR_037643;NR_103483;NR_103484 AAI25143;BAF85354;BAF85388;BAG59117;CAB43254;CAG38524;CAL37651;CAL38135;EAW73019;EAW73020;EAW73021;EAW73022;EAW73023;NP_001121614;NP_001186611;NP_001265176;NP_001265177;NP_056300;Q9Y3V2 Hs.483512;Hs.709591 1692502;1770275;2109791;2134590;2149704 AL009789;AL033903;RH68937;RWDD3_9436;SHGC-75187 DKFZp566K023;FLJ51225;RSUME OTTHUMP00000012585;OTTHUMP00000012586;RWD domain-containing protein 3;RWD-containing sumoylation enhancer protein-coding ENSG00000122481 21393 11527 VALIDATED 1605847 RWDD4 RWD domain containing 4 4 4 4 q35.1 181893096 181913435 - 184797783 184817325 - 184560789 184580331 - 6480464 16189514;15815621;15489334;14702039;12477932;9847074;21145461;17207965;22939629;22990118;21139048;19322201 201965 B4DDP2;D6R9C7;D6RCM5;D6RDH6;E7EV43;K4DI92;Q6NW29 ABBA01070506;AC108477;AK021702;AK293274;AK315515;AMYH01014763;BC017472;BC067752;BC107432;CH471056;DB530118;NM_152682 AAH17472;AAH67752;AAI07433;ADQ31973;BAG37896;BAG56803;EAX04688;NP_689895;Q6NW29 Hs.133337 1686871;1689195;1721923;2167082 G59994;RH36484;RH98944;SHGC-67782 FAM28A;MGC10198;RWDD4A OTTHUMP00000218626;OTTHUMP00000218681;RWD domain containing 4A;RWD domain-containing protein 4;RWD domain-containing protein 4A;family with sequence similarity 28, member A APPROVED protein-coding ENSG00000182552 23750 14393 VALIDATED 1351067 RXFP1 relaxin/insulin-like family peptide receptor 1 This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pregnancy and parturition as a receptor for the protein hormone relaxin. Decreased expression of this gene may play a role in endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 4 4 q32.1 159662497 159792713 + 159442866 159574524 + 1580863;6480464 22180889;22257012;19416162;19416161;19416160;19279230;19116340;18723073;18533687;18434306;18079195;17158203;17148455;16963451;16507880;16303766;16051677;15956719;15956698;15956688;15956684;15722441;15695505;15566402;15465925;15240635;14742692;14702039;14633277;12506116;12477932;11517286;10935549;11809971;19416223;19416222;19416214;19416186;19416177;19416175;20664520;14522968;15649866;19712722;12036966;20655530;19913121;23024363;21324453;22737225;18843967;16344560;22973049;23043266 59350 B3KV27;B4DGP2;B4DHD1;E9PCA3;E9PIF0;Q59H16;Q9HBX9 AB208943;ABBA01070207;ABBA01070208;AC019341;AC107219;AC108017;AC121161;AF190500;AI653269;AK122647;AK294694;AK295040;AK300379;AK307889;AK312470;AMYH01014643;AY899848;AY899849;AY899850;BC112142;BC113617;BC143556;BC143557;BC143558;BC143559;BX647975;BX647980;BX647985;CH471056;CR748189;DA156504;DA241507;DA308373;DA519897;DC334052;NG_031835;NM_001253727;NM_001253728;NM_001253729;NM_001253730;NM_001253732;NM_001253733;NM_021634;NR_045579;NR_045580;NR_045581;NR_045582;NR_045583;NR_045584 AAG17167;AAI12143;AAI13618;AAX85196;AAX85197;AAX85198;AAY41039;ADR83250;BAD92180;BAG53639;BAG57853;BAG58092;BAG62114;EAX04856;EAX04857;NP_001240656;NP_001240657;NP_001240658;NP_001240659;NP_001240661;NP_001240662;NP_067647;Q9HBX9 Hs.591686 1724867;1763559;1778135;1847716;1852516;2134910;2148814;2162804 D4S1266;D4S3351;D4S3354;D4S510;RH119197;SHGC-147262;SHGC-50975;SHGC-67714 LGR7;LGR7.1;LGR7.10;LGR7.2;MGC138347;MGC142177;RXFPR1 OTTHUMP00000195686;OTTHUMP00000195687;OTTHUMP00000195688;OTTHUMP00000220567;leucine-rich repeat-containing G-protein coupled receptor 7;relaxin family peptide receptor 1;relaxin receptor 1 APPROVED protein-coding ENSG00000171509 19718 05975 606654 REVIEWED 1348831 RXFP4 relaxin/insulin-like family peptide receptor 4 GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008] 1 1 1 q22 128984365 128985510 + 154178104 154179249 + 155911480 155912625 + 16710414;16507880;15956688;15525639;15489334;15465925;14623098;14530218;14522967;12477932;12044878;18582868;2834384;18577758 339403 Q8TDU9 AB065617;AB083593;ABBA01016680;AL355388;AMYH01001433;AX148192;AY170824;AY288415;AY394502;BC101507;BC101509;CH471121;DN693323;EU432129;NM_181885 AAI01508;AAI01510;AAO17676;AAP72124;AAQ92316;ABY87928;BAB89306;BAC05844;EAW53020;NP_871001;Q8TDU9 Hs.449914 2217374;5492919 GPR100_3738;UniSTS:483228 GPCR142;GPR100;MGC126556;MGC126558;RLN3R2;RXFPR4 G protein-coupled receptor 100;G-protein coupled receptor 100;G-protein coupled receptor GPCR142;OTTHUMP00000018853;RLN3 receptor 2;insulin-like peptide INSL5 receptor;relaxin 3 receptor 2;relaxin family peptide receptor 4;relaxin-3 receptor 2 APPROVED protein-coding ENSG00000173080 14666 16421 609043 VALIDATED 1348938 RYKP1 receptor-like tyrosine kinase pseudogene 1 17 17 17 p13.2 4136931 4139918 + 4072182 4075198 + 4125361 4128349 + 10066802;8386829;8247543;2247464 6260 ABBA01054758;AC087742;AMYH01008035;NG_005810 1673031;1733392 D14S567;WI-12317 JTK5;JTK5B;RYKL1;RYKP APPROVED pseudo 10482 INFERRED 1352408 RXFP3 relaxin/insulin-like family peptide receptor 3 5 5 p15.1-p14 33972246 33974099 + 33936491 33939023 + 1580863;6480464 10806363;19152634;18582868;18434306;16507880;15956730;15956688;15489334;15465925;14522968;12477932;20159943;20211485;2834384;21832049;22257012;22347403 51289 Q502V2;Q9NSD7 ABBA01066761;AC139777;AMYH01015007;AY236541;AY394501;BC095526;BC113438;BC113440;CH471118;D88437;NM_016568 AAH95526;AAI13439;AAI13441;AAO92063;AAQ92315;ACE86658;ACE87340;ADR83197;BAA93001;EAX10810;NP_057652;Q9NSD7 Hs.170146 5492937 UniSTS:483288 GPCR135;MGC141998;MGC142000;RLN3R1;RXFPR3;SALPR G-protein coupled receptor GPCR135;G-protein coupled receptor SALPR;OTTHUMP00000115853;RLN3 receptor 1;g protein-coupled receptor SALPR;relaxin 3 receptor 1;relaxin family peptide receptor 3;relaxin-3 receptor 1;somatostatin and angiotensin-like peptide receptor;somatostatin- and angiotensin-like peptide receptor protein-coding ENSG00000182631 24883 17979 609445 VALIDATED 736929 RXRA retinoid X receptor, alpha Retinoid X receptors (RXRs) and retinoic acid receptors (RARs), are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors exert their action by binding, as homodimers or heterodimers, to specific sequences in the promoters of target genes and regulating their transcription. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. [provided by RefSeq, Jul 2008] 9 9 q34.3 136358231 136472252 + 137218316 137332431 + 1643104;1643105;1643109;1643108;1643114;1643115;1580863;1643106;1643107;2317461;2317465;2317466;2317462;6480464;6484675;6484731;6907045 15936932;17786350;16344269;16782282;15566521;15318950;17483744;17270546;19396032;19791468;19008781;19152448;17132853;17320364 22474364;17272748;17272513;17170071;17038419;17018855;17008383;16912044;16806672;16574651;16517099;16494845;16169070;15635645;15608692;15544927;15509776;15494375;15285879;15255287;15231748;15171703;15131121;15082790;15073272;15047147;15006913;14981089;14761960;14738865;14705796;14671211;12969790;12914524;12874288;12771132;12576329;12514092;12485829;12477932;12393611;12297106;12235159;12145331;12117567;12097375;12048211;12039952;11981034;11972046;11929748;11855864;11851396;11839661;11739747;11714715;11641790;11450851;11439184;11259580;11014615;10908304;10882139;10882070;10874028;10872826;10866662;10854698;10786636;10748178;10698945;10694476;10594021;10567404;10517671;10490654;10428836;17351148;17341859;10393239;10383413;10361124;10347167;10195690;10082530;10075655;9918848;9837884;9812988;9795230;9727070;9717844;7990953;12040021;1310260;1651173;12037571;17426122;17538076;19453261;19374686;19258929;19255064;19211732;19144697;19070893;19043829;18957410;18840407;18761406;18676680;18660489;18634911;18607089;18375961;18362166;18239067;18234786;18217139;18206668;18162523;18003614;17905826;17900311;17451432;17433303;19046432;9698548;9694878;9692544;9653119;9632676;9628876;9491782;9489701;9452433;9440806;9267036;9115274;9110174;9083083;9013544;8887632;8670810;8622986;8619474;8616895;8301142;8257089;8114692;8034312;8027277;7925381;7870181;7838715;7776974;7760929;7760852;7758108;7746322;7705655;7667283;7566127;7481822;2159111;1331778;1314167;1311101;1310351;11514567;9878542;9171239;9632709;9368056;10611353;12549917;12052862;14578865;11773444;11158331;8621574;12198243;10480874;10318855;10610177;12943985;14980220;9920895;15829977;19345331;17363140;20371703;20404925;19913121;20558521;20602615;20628086;10428834;12665583;12796488;12966085;14701856;15140878;15254248;15604093;16554032;16778766;17195188;19170196;19442374;19625176;19692168;19753122;19888660;19902255;19915048;19917671;19965660;20070029;20145122;20176747;20306291;20307661;20364085;20379614;7565739;22573555;18511497;20398753;16357103;21135166;12511607;20861222;22475777;20541701;20819778;20855565;22901127;21053424;21359593;21707843;20354914;11117530;11149488;15528208;15647825;15657427;15774904;15805579;15863722;15890193;18270252;20947021;22066143;10037600;10082574;10224118;10733574;10935544;11027271;11075811;15116119;9415406;21355951;14726489;17786964;21284483;21402532;22872755;9430642;23160820;21478865;21349840;20564192;11915042;19279199;21561764;19883617;20133893;21670079;22542077;23639973;21709632;19786558;22318606;9121466;22022577;8598193;9346901;21984809;11124027;17761950;21937108;21949683;23389291;17641689;21673049;21900206;22130024;22814818;22179700;22210720;22949521;23180655;22710246;15941852;16540467;12847098;15302918;21890473;21988832;23000965;23056264;23612120;23493294;19692572;21049972;21923909;8603043;23079705;23291589;23392891 6256 B3KY83;F1D8Q5;P19793;Q6P3U7 AB307705;ABBA01030001;ABBA01030002;AC156789;AF052092;AK090416;AK131081;AK131192;AK131513;AL354796;AL669970;AL683798;AMYH01021825;AMYH01021826;BC007925;BC009882;BC031356;BC063827;BC096246;BC110998;CH471090;DQ303444;HI574244;HQ692843;NM_002957;U66306;X52773 AAC31116;AAH63827;AAI10999;ABB96254;ABZ92182;ADZ17354;BAC03397;BAC85131;BAG54745;BAH02296;CAA36982;CBX47611;EAW88122;EAW88123;EAW88124;EAW88125;NP_002948;P19793 Hs.590886 1648710;1648993;1713895;1788164;1788166;1788168;1788170;1788172;1788174;1788176;1788178;1798112;2139172;2152052;2178394;2182880;2185339;5015931 G67257;G67258;G67259;G67260;G67261;G67262;G67263;G67264;GDB:376726;RH119378;RH36155;RH48538;RH70281;RH71144;RXRA_2235;STS-AA004312;STS-Z41140;WI-22534 FLJ00280;FLJ00318;FLJ16020;FLJ16733;MGC102720;NR2B1 OTTHUMP00000022510;nuclear receptor subfamily 2 group B member 1;retinoic acid receptor RXR-alpha;retinoid X nuclear receptor alpha;retinoid x receptor alpha APPROVED protein-coding 10477 01577 180245 REVIEWED 1317019 RYR2 ryanodine receptor 2 (cardiac) This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] 1 1 q43 235272325 236063911 + 237205702 237997288 + 1599247;1599251;1599243;1580863;6480464;6907045;7204694;7240710;7240708 17027851;16483256;11159936;20961976;23091085 20471962;17921453;10830164;19220289;15044459;19095005;19226252;19216760;18929323;18618700;18586264;17967164;17903301;17875969;17693412;17558603;17556193;17554300;17330843;17322175;17313373;17259277;17200109;17062961;17052226;16825580;16818210;16769042;16601229;16272262;16188589;15887426;15851612;15749201;15591045;15466642;15231748;15215235;15197150;15147738;15054223;15047862;15033925;15016728;14722100;14593104;14571276;12959641;12919952;12887973;12754204;12576471;12459180;12446682;12443530;12213830;12106942;12015469;11897558;11807805;11673493;11673462;11576544;11352932;11237759;11208676;11157710;10788707;10463072;10081705;9607712;9148749;8809036;8589694;8406504;7592856;2380170;19913121;20628086;20080988;20716843;15174051;18262818;19398665;19626040;19684603;19926015;20045464;20106799;20132818;20379614;20408814;20424473;21386754;21270101;20676041;19781797;20811636;19850743;21315846;21659649;21652165;21768539;22511749;22178870;21872879;23094885;21881589;18468998;17569730;22456474;20301310;20301466;21151189;22374134;22608700;17110338;20195357;23258540;22787013;22948152;16213210;22222782;23006423;23251661;23382691;19009018;20962236;21853274;22519458;22802361;21531043;23152493 6262 B4DGV4;F5H3C7;H0YFV3;H0YGL9;H7BY35;Q92736 AB204532;AB204533;AB204534;AB204535;AB204536;ABBA01033178;ABBA01033179;ABBA01033180;ABBA01033181;ABBA01033182;ABBA01033183;ABBA01033184;AI218003;AJ002511;AJ300340;AJ300429;AK294792;AK297823;AL356773;AL359924;AL365332;AL391809;AL442065;AL445473;AL513130;AL596133;AMYH01001864;AMYH01001865;CH471098;NG_008799;NM_001035;X91869;X98330;Y08218 BAG57915;BAG60160;BAJ10285;BAJ10286;BAJ10287;BAJ10288;BAJ10289;CAA05502;CAA62975;CAA66975;CAA69395;CAC18855;EAW70069;EAW70070;EAW70071;NP_001026;Q92736 Hs.109514;Hs.738571 1650848;1656591;1669359;1670297;1673141;1692552;1692562;1694860;1695400;1708110;1715099;1739391;1751181;1752679;1752925;1760563;1764779;1765435;1765761;1766029;1766561;1769166;1779844;1848322;1848324;2130169;2137832;2141345;2143549;2150674;2156057;2158713;2172528;2177829;2219660;5017483;5494084 A005K43;AFMa045zc5;AL009368;AL009377;AL009781;AL009896;AL010068;AL033928;AL034052;AU047536;D1S1567;D1S2330E;D1S3582;G19121;G20294;G44301;HSC2DA032;RH119501;RH68322;RYR2;RYR2__5535;SHGC-105042;SHGC-106561;SHGC-106812;SHGC-143985;SHGC-148351;SHGC-148923;SHGC-149192;SHGC-149417;SHGC-149875;SHGC-153844;SHGC-30442;SHGC-30836;SHGC-68511;SHGC-76523;SHGC-76579;SHGC-81453 ARVC2;ARVD2;RYR-2;RyR;VTSIP OTTHUMP00000037535;RYR-2;cardiac muscle ryanodine receptor;cardiac muscle ryanodine receptor-calcium release channel;cardiac-type ryanodine receptor;cardiac-type ryaodine receptor;hRYR-2;islet-type ryanodine receptor;kidney-type ryanodine receptor;ryanodine receptor 2;type 2 ryanodine receptor APPROVED protein-coding ENSG00000198626 10484 01619 180902;600996;604772 REVIEWED 1316413 RYR1 ryanodine receptor 1 (skeletal) This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 q13.1 43616180 43770044 + 38924340 39078204 + 1580863;6480464;6907045;7204694;7240710 20961976 12066726;12059893;12045220;11943213;11928716;11709545;11673493;11673462;11668625;11562475;11279144;11237759;11171121;10737800;10612851;10531621;10484775;10212196;10051009;10026226;9890886;9607712;9497245;9450902;9389851;9298970;9199552;9138151;9066328;8661021;8432525;8380342;8220423;8220422;8012359;7881417;7849712;7829078;7751854;7556644;1862346;1774074;1639409;1354642;14638677;7721813;11069905;9287354;12112081;9030597;7511586;19120137;11206130;2298749;19095005;1374404;19346234;19191333;19191329;19096717;19027160;19020143;18945287;18927079;18765655;18719443;18713863;18650434;18618700;18564801;18505726;18312400;18306019;18283481;18253926;18212565;18092949;17707769;17538032;17474147;17376685;17293538;17259277;17226826;17190947;17071618;17033962;16958053;16835904;16621918;16484216;16380615;16372898;16284304;16239337;16084090;15972723;15774471;15689621;15564033;15448513;15342556;15299003;15226293;15210166;15175001;15057824;15033925;14999498;14985404;14722100;14660561;14641996;14596927;14532276;14500992;12810060;12709444;12704193;12565913;12509428;12509414;12496092;12223488;12213830;12136074;12124989;22473935;22480578;19082546;19223216;19303294;19454545;19645060;19648156;19685112;19762757;19807743;19823671;19919814;19931341;20080650;20379614;20424473;20461000;19918671;20301436;20724266;20583297;20839240;22719904;22846571;20482855;20142353;20301565;21157159;21062345;21239886;21454501;20952238;20681998;21674524;21248738;21455645;23585572;21514828;21911697;21503806;21926372;21965348;20452790;21918424;22028225;21699856;22100703;21828061;21881589;22415532;20301325;20301467;22030266;23071107;22948152;22752422;22589245;23553484;21139048;23000965;23173055;22550088;19009018;20962236;23558838 6261 M0QZY3;M0R014;M0R0S0;M0R127;M0R1U6;M0R2E2;P21817 A20359;AB066217;AB066218;AB209425;ABBA01040682;ABBA01040683;ABBA01040684;ABBA01040685;ABBA01040686;ABBA01040687;ABBA01040688;ABBA01040689;AC005933;AC011469;AC067969;AF075460;AK293785;AMYH01009780;AMYH01009781;AMYH01009782;AMYH01009783;BI000785;BP231595;CH471126;J05200;M91455;NG_008866;NM_000540;NM_001042723;S77392;S78717;U48508 AAA60294;AAA60295;AAB21245;AAB34356;AAC26798;AAC51191;AAC71651;AAF66076;BAB83891;BAB83892;BAD92662;BAG57198;CAA01501;EAW56795;EAW56796;EAW56797;EAW56798;NP_000531;NP_001036188;P21817 Hs.466664 1734616;1790247;1793448;1851729;2114390;2172994 D19S626E;PMC22438P1;RH11112;RH71249;RYR1;SHGC-6129 CCO;MHS;MHS1;RYDR;RYR;RYR-1;SKRR RYR-1;central core disease of muscle;ryanodine receptor 1;ryanodine receptor type1;sarcoplasmic reticulum calcium release channel;skeletal muscle calcium release channel;skeletal muscle ryanodine receptor;skeletal muscle-type ryanodine receptor;type 1 ryanodine receptor;type 1-like ryanodine receptor APPROVED protein-coding ENSG00000196218 10483 01618 117000;145600;180901;255320 REVIEWED 1346179 RYK receptor-like tyrosine kinase The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012] 3 3 q22 135358668 135452276 - 133875978 133969586 - 1580863;6480464 8386829;8726462;17672918;16681403;15454084;15146197;12477932;11956217;10454588;8390040;8247543;7613029;2247464;20634891;19937600;20056645;21875946;21906983;19322201;17110338;22773843 6259 F5H8L5;H0Y8A4;H7C4P6;P34925;Q59FQ5;Q8WTZ8 AB209405;ABBA01059159;AC096967;AC107310;AC108742;AMYH01013512;BC021700;BQ003586;CH471052;CN309980;NG_032937;NM_001005861;NM_002958;S59184;X69970;X96588 AAB26341;AAH21700;AAI48615;AAI53091;BAD92642;CAA49591;CAA65406;EAW79155;NP_001005861;NP_002949;P34925 Hs.654562 1339218;1341888;1655800;1673031;1680016;1688985;1733392;1744789;1754287;1756449;1759743;1784632;1855092;2159641 D14S567;D3S1238;D3S3684;D3S4192;GDB:568595;RH69892;RH70882;RH81074;SHGC-112408;SHGC-132301;SHGC-143452;SHGC-150765;SHGC-77367;WI-12317 D3S3195;JTK5;JTK5A;RYK1 JTK5A protein tyrosine kinase;OTTHUMP00000216375;RYK receptor-like tyrosine kinase;hydroxyaryl-protein kinase;tyrosine-protein kinase RYK APPROVED protein-coding ENSG00000163785 10481 02751 600524 REVIEWED 69015 RYR3 ryanodine receptor 3 The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 15 15 q14-q15 31390469 31945595 + 33603177 34158303 + 1580863;6480464;6907045;7204694 20961976 9395096;21145461;19096130;18588595;14970260;14702039;14550562;12565913;12471029;12354756;12213830;11598113;11171121;10508160;9607712;9515741;9384575;8276408;7556644;7523185;1320290;19095005;19581603;20009918;20201926;20379614;20424473;22627881;21810988;21139048;22100703;21881589;22948152;17110338;23393343;19009018;20962236;21531043 6263 Q15413 AB001025;ABBA01038549;ABBA01038550;ABBA01038551;ABBA01038552;ABBA01038553;ABBA01038554;ABBA01038555;ABBA01038556;AC010809;AC011938;AC055874;AC067793;AC087638;AJ001515;AJ002512;AMYH01006505;AMYH01006506;AMYH01006507;AMYH01006508;AMYH01006509;CH471125;NM_001036;NM_001243996;X74269;X74270 BAA23795;CAA04798;CAA05503;CAA52326;CAA52327;EAW92276;EAW92277;EAW92278;EAW92279;EAW92280;NP_001027;NP_001230925;Q15413 Hs.709373 1335087;1338309;1341689;1684343;1685447;1703968;1704960;1709414;1710960;1713199;1713261;1716871;1719443;1719463;1722185;1723229;1747835;1753825;1755117;1761275;1790379;2110711;2111210;2157250;2178419;7185451;7186920 D13S284;D15S1007;D15S1040;D15S1355;D15S224E;D15S995;G09850;G60145;G66865;RH120387;RH120621;RH121729;RH122298;RH123440;RH123450;RH94176;RH98244;RYR3;RYR3__6899;SHGC-142044;SHGC-145281;SHGC-77736;SHGC-77979;SHGC-81739;SHGC-84456;SHGC-89207 RYR-3;brain ryanodine receptor-calcium release channel;brain-type ryanodine receptor;ryanodine receptor 3;type 3 ryanodine receptor APPROVED protein-coding ENSG00000198838 10485 01620 180903 REVIEWED 1352862 S100A11P1 S100 calcium binding protein A11 pseudogene 1 7 7 7 q22.1 97709621 97710151 + 102689683 102689991 + 102902398 102902928 + 6480464 7887910 729659 ABBA01057992;AC004668;AMYH01017811;CH471070;NG_008400 EAW83322 S100A11P;S100A14 APPROVED pseudo 10491 INFERRED 3323318 S100A11P2 S100 calcium binding protein A11 pseudogene 2 7 7 7 p14.2 35193480 35194010 + 35175318 35175842 + 35208787 35209317 + 12853948;9847074 347701 ABBA01056887;AC005826;AC006379;AMYH01017178;NG_002702 AAD21786 pseudo 37840 INFERRED 4890230 S100A11P4 S100 calcium binding protein A11 pseudogene 4 12 12 63713596 63713898 + 64045408 64045710 + 100506938 ABBA01026623;AC027667;AMYH01004541;NG_027989;NG_031909 pseudo 37841 INFERRED 1316054 RYBP RING1 and YY1 binding protein 3 3 p13 72506438 72578462 - 72423744 72495774 - 1580863;6480464 10369680;19098711;18551146;15489334;14765135;14691460;12477932;12411495;11953439;11395500;11171983;8943360;16189514;22723975;16943429;17070805;20379614;22325352;20543098;21139048;21530438;21890473;21906983;19322201;20881960 23429 Q8N488 AB029551;ABBA01030947;ABBA01030948;AC104330;AF085840;AF179286;AF227959;AL049940;AMYH01013278;AY228125;BC014959;BC036459;BF939411;CH471055;NM_012234 AAD51858;AAH14959;AAH36459;AAK63197;AAO73587;ABM83140;ABM86336;BAA89486;EAW65515;EAW65516;EAW65517;NP_036366;Q8N488 Hs.7910 1659841;1671650;1672200;1714007;1854323;2154275;2167979;2169158;2170221;2170538;2170540;2178226;2186614 A001W26;Cda10b05;G19717;HSC10B052;RH119434;RH16326;SGC33951;SGC34284;SHGC-36192;SHGC-52585;SHGC-77078;STS-AA027856;WI-11804 AAP1;DEDAF;YEAF1 APAP-1;DED-associated factor;OTTHUMP00000214312;RING1 and YY1-binding protein;YY1 and E4TF1 associated factor 1;YY1 and E4TF1-associated factor 1;apoptin-associating protein 1;death effector domain-associated factor;ring1 interactor RYBP protein-coding 10480 09607 607535 VALIDATED 735628 RXRB retinoid X receptor, beta This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 6 6 p21.3 33269343 33276410 - 33161362 33168473 - 1580863;6480464;6484675;6484731;6907045 17132853;17320364 7990953;1662118;19255064;19223982;18676680;18660489;18375961;18217139;17916375;17389020;17341859;16189514;15635645;15608692;15589691;15489334;15207008;14985366;14574404;12549917;12514092;12477932;12403842;12175732;11840500;11839661;11782480;11278635;10611353;10594021;10187832;9727070;9627117;9267036;9150186;9013766;8889548;8670810;8381386;8257090;8125298;8034312;7758108;7705655;7556191;7481822;1514958;1331778;1315958;1310259;9626662;10965896;9346901;19913121;20587610;20628086;15604093;17195188;19170196;19453261;19625176;19692168;19811264;19851445;19888660;11438648;15625236;20211142;22322885;21693764;21890473;21906983;20195357;21988832;23000965;19471022;10737800;22242598;21923909 6257 B7Z3E4;E9PK75;E9PK95;P28702;Q5STP9 AB209244;ABBA01038138;AF065396;AF120161;AK225842;AK295759;AK300402;AK301096;AK302125;AL031228;AL645940;AL662824;AL844527;AMYH01016242;AW473828;BC001167;BE704198;BM982876;BT007280;CH471081;CR354565;CR759733;CR936877;DC425042;HQ692844;HQ709179;M84820;NG_023374;NM_001270401;NM_021976;X63522;X63523;X65463;X66424 AAA60293;AAC18599;AAD13794;AAH01167;AAP35944;ADZ17355;ADZ17386;BAD92481;BAH12180;BAH13278;BAH13409;BAH13631;CAA20239;CAA45087;CAA46456;CAI95622;EAX03679;NP_001257330;NP_068811;P28702 Hs.388034 1774365;1798114;2127833;2131155;2146148;2149697;2189435;2191587;5021678;5491659 G10518;MARC_26740-26741:1037207926:1;MARC_5891-5892:991939781:1;MARC_6301-6302:997299518:1;RH46226;RH69971;RXRB_2036;SHGC-56505;STS-X66424;ksks12 DAUDI6;H-2RIIBP;MGC1831;NR2B2;RCoR-1 MHC class I promoter binding protein;OTTHUMP00000029436;OTTHUMP00000029438;nuclear receptor subfamily 2 group B member 2;retinoic acid receptor RXR-beta;retinoid X nuclear receptor beta;retinoid x receptor beta APPROVED protein-coding ENSG00000204231 10478 01578 180246 REVIEWED 733408 RXRG retinoid X receptor, gamma This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010] 1 1 q22-q23 163636974 163681054 - 165370159 165414592 - 1580863;6480464;6484675;6484731;6907045 17132853;17320364 21145461;8034312;19106195;19064610;18660489;18398047;18269685;17272748;17195188;16710414;16197915;16189514;16169070;15635645;15608692;15489334;15299084;15186611;12615696;12514092;12477932;12444914;12361685;12082103;11839661;11641790;11397877;9794455;9150186;9147069;9143002;8889548;8616895;8127707;7806300;1312497;1310259;8650544;11713274;20602615;20634891;20510503;11158331;15604093;15919723;16344560;17643375;19453261;19536175;19754311;20113835;20133701;20379614;21102462;21131950;20211142;20855565;21368711;21697133;20019805;21187846;21355951;21843636;21900206;22020178;22100394;22180072;22193333;8391126;9006910;21923909 6258 F1D8Q7;F1T097;P48443 AB307706;AB593015;AB593016;ABBA01047282;AK125497;AK312922;AL160058;AL538345;AMYH01001469;BC012063;BE349162;BI768747;BM684530;BM728015;BX118484;CH471067;CR456705;DA251671;DA893476;HQ692845;NG_029517;NM_001256570;NM_001256571;NM_006917;NR_033824;U38480 AAA80681;AAH12063;ACE86731;ACE87417;ADZ17356;BAG35767;BAH02297;BAJ83970;BAJ83971;CAG32986;EAW90745;NP_001243499;NP_001243500;NP_008848;P48443 Hs.26550 1339876;1753743;1850543 D1S2878;SHGC-89236;WI-15938 NR2B3;RXRC OTTHUMP00000032566;nuclear receptor subfamily 2 group B member 3;retinoic acid receptor RXR-gamma;retinoid X nuclear receptor gamma variant 1;retinoid X receptor-gamma;retinoid x receptor gamma 2314796;2314802;2315765;2315816 GLUCO118_H;GLUCO121_H;GLUCO149_H;GLUCO177_H APPROVED protein-coding ENSG00000143171 10479 01579 180247 REVIEWED 3277804 S100A11P3 S100 calcium binding protein A11 pseudogene 3 11 11 11 q13.4 68510559 68526585 - 70894755 70910781 - 71217107 71233133 - 645474 ABBA01017551;AMYH01003786;AP000867;NG_022983 pseudo 37842 INFERRED 1349517 S100A1 S100 calcium binding protein A1 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008] 1 1 q21 151867497 151871137 + 153600873 153604512 + 1579977;1579960;1580863;6480464;7204682 10924368;16129693;17964289 12804600;10913138;1998503;18029348;14638689;19302533;19297317;19037854;18845991;18360353;18193148;17512776;17483815;17396138;17210106;16969478;16760135;16710414;16189514;16169012;15780567;15654019;15608682;15578088;15489334;15147519;12960148;12721284;12477932;12042313;11909974;11829317;11007787;10869553;10753920;10510252;9926943;9925766;9920416;9883272;9803314;9645951;9468301;9298970;8898862;8894274;8701470;8641565;8341667;21296671;7759097;7620916;4052452;3722149;1384693;20591429;20347987;20864512;12118070;15171681;19011512;19384190;19482672;19538970;19601998;19680475;19926575;20042890;21090249;22989881;23048072;20429377;22399290;22451665;22647434;23351007;23662436 6271 P23297;Q5T7Y4;Q5T7Y5;Q5T7Y6 AB451316;AB451446;ABBA01049441;AK126904;AK312152;AL162258;AMYH01001405;BC014392;BC035791;BC072006;BC094843;BT006938;CH471121;GN341830;M65210;NM_006271;X58079 AAH14392;AAP35584;BAG35086;BAG70130;BAG70260;CAA41107;CAY39334;EAW53301;EAW53302;NP_006262;P23297 Hs.515715 2157466;2217928;5017578 S100A1;S100A1_2878;STS-X58079 S100;S100-alpha;S100A OTTHUMP00000035100;S-100 protein alpha chain;S-100 protein subunit alpha;S100 alpha;S100 calcium-binding protein A1;S100 protein, alpha polypeptide;protein S100-A1 APPROVED protein-coding ENSG00000160678 10486 01489 176940 REVIEWED 1352115 S100A12 S100 calcium binding protein A12 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. [provided by RefSeq, Jul 2008] 1 1 q21 151612808 151614699 - 153346184 153348075 - 1580863;6480464 7626002;11522286;8619876;18029348;19542470;19386136;19284577;18663285;18443896;18346834;18292089;18257809;18050248;17852869;17787039;17328050;17158877;16864903;16804393;16710414;16253391;15489334;15077313;12777802;12740341;12699958;21258041;22818064;12697438;12477932;12042313;11884210;11884208;11856825;11134923;10666601;10399917;8985590;8769108;8619860;7759097;12218151;15033494;19501594;19530996;19576587;19875725;20025991;20437698;20537326;20461025;10531386;20512925;19201044;21067798;22796048;20847094;20966394;22786469;21418345;21822023;22549347;21906738;21724696;22609404;23324110 6283 P80511 ABBA01049433;AL591704;AMYH01001403;BC070294;CH471121;D49549;D83657;D83664;NM_005621;X97859;X98289 AAH70294;ADR82637;BAA08497;BAA12030;BAA12036;CAA66453;CAB94792;EAW53332;NP_005612;P80511 Hs.19413 1712108;2175564 G54103;WI-17060 CAAF1;CAGC;CGRP;ENRAGE;MRP-6;MRP6;p6 EN-RAGE;OTTHUMP00000015332;S100 calcium-binding protein A12 (calgranulin C);calcium-binding protein in amniotic fluid 1;calgranulin C;calgranulin-C;extracellular newly identified RAGE-binding protein;migration inhibitory factor-related protein 6;neutrophil S100 protein;protein S100-A12;s100 calcium binding protein a12 (calgranulin c) APPROVED protein-coding ENSG00000163221 10489 04383 603112 REVIEWED 733247 S100A10 S100 calcium binding protein A10 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008] 1 1 q21 150222010 150233338 - 151955386 151966714 - 6480464 1831433;18029348;18838110;18434302;18288090;17999956;17971878;17824845;17695432;17581860;17510952;17241856;16984913;16890384;16710414;16400147;16230353;15849182;15574370;15489334;15302870;15196694;13679511;12730231;12660155;12645529;12477932;12235365;12198146;12163506;11939791;11590242;11571284;10777578;10559334;9886297;9369453;9202034;9047302;9036930;8898866;8701470;8341667;8276421;7821789;7759097;2148288;1533380;1533123;1386341;16169070;11258932;20863517;21372205;17254974;19521263;19601998;19730683;20100475;9197417;20093721;21310922;21269277;22927980;22939629;21367534;21849434;21928315;21938494;12938929;20639865;21139048;21890473;21906983;21722919;22830395;23275167;21963094;22304920;23000965;23091277;23129259;22797859;22365974;22940583 6281 P60903;Q6FGE5 ABBA01049409;AK291073;AL450992;AMYH01001395;BC015973;BC105786;BE378444;BI827113;BQ050753;CH471121;CQ878718;CQ891323;CR542162;D28387;M38591;M81457;NM_002966 AAA58404;AAA58426;AAH15973;AAI05787;ABM84481;ABM84482;ABM84483;ABM87802;ABM87803;BAA05753;BAF83762;CAG46959;CAH59521;CAH68677;EAW53397;EAW53398;EAW53399;NP_002957;P60903 Hs.143873 1775238;2154597;2219662;5091433 D1S3250;G34842;RH17741;S100A10_2658 42C;ANX2L;ANX2LG;CAL1L;CLP11;Ca[1];GP11;MGC111133;P11;p10 OTTHUMP00000015269;S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11));S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11));annexin II ligand, calpactin I, light polypeptide;annexin II tetramer (AIIt) p11 subunit;calpactin I light chain;calpactin-1 light chain;cellular ligand of annexin II;protein S100-A10;s-100 related protein, clone 42c APPROVED protein-coding ENSG00000197747 10487 00232 114085 REVIEWED 1323591 S100A11 S100 calcium binding protein A11 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008] 1 1 q21 150271606 150276135 - 152004982 152009511 - 1580863;6480464 10913138;10851017;16130169;19048101;18694925;18618420;18523305;18463164;18385759;18340452;17978094;17932043;17624315;17537172;17476473;17000675;16964243;16710414;15701847;15489334;15322223;15302935;15241500;15138568;15051732;14962086;14623863;12704215;12645011;12477932;11873942;10673436;10486266;9287141;8985590;8557678;7889529;7759097;7490069;1286667;11258932;22319637;20347987;19577285;20379614;22869607;20372844;21139050;22903637;21674799;22939629;20639865;20972266;21139048;21890473;21906983;21963094;21987572;21861103;18589612;18029348 6282 P31949 ABBA01049409;AK312184;AL591893;AMYH01001395;BC001410;BC014354;BT009912;CH471121;D38583;D49355;D50374;NM_005620;X80201 AAH01410;AAH14354;AAP88914;ABM82672;ABM85851;BAA07597;BAA08354;BAA23325;BAG35117;CAA56492;EAW53392;NP_005611;P31949 Hs.417004 5111137;5124371 RH17442;RH91450 MLN70;S100C MLN 70;OTTHUMP00000015271;S100 calcium-binding protein A11 (calgizzarin);calgizzarin;metastatic lymph node gene 70 protein;protein S100-A11;protein S100-C;s100 calcium binding protein a11 (calgizzarin) APPROVED protein-coding ENSG00000163191 10488 04385 603114 REVIEWED 1344968 S100A14 S100 calcium binding protein A14 This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011] 1 1 q21.3 151853355 151855414 - 153586731 153588808 - 1580863;6480464 19351828;16710414;16189514;15489334;12477932;12477722;11944983;22451655;17207965;18029348;16682778;17620096;17625598;18606705;19601998;19956863;21559403;22032898;7759097;21800051;21139048;21906983;23197251 57402 Q9HCY8 ABBA01049439;ABBA01049440;AF426828;AMYH01001405;AY007220;BC005019;BG677973;BX470102;CS185562;NM_020672 AAG01893;AAH05019;AAM19206;ADQ32442;CAJ42743;NP_065723;Q9HCY8 Hs.288998 BCMP84;S100A15 OTTHUMP00000032964;OTTHUMP00000032965;OTTHUMP00000032966;S100 calcium-binding protein A14;S114;breast cancer membrane protein 84;protein S100-A14 APPROVED protein-coding ENSG00000189334 18901 10467 607986 VALIDATED 1315577 S100A16 S100 calcium binding protein A16 1 1 1 q21 126650891 126657038 - 151845991 151852138 - 153579367 153585514 - 1580863;6480464 16710414;16189514;15635413;15489334;15302935;14684152;12477932;9417904;8781769;17030513;21832049;22939629;21046186;18029348;21800051;21139048;21906983 140576 Q96FQ6 ABBA01049438;AJ585980;AK290804;AMYH01001405;AY221961;AY762098;BC010541;BC019099;BC095462;BX470102;CH471121;NM_080388;U23859;U92985 AAH10541;AAH19099;AAH95462;AAP46152;AAW88319;ABM84516;ABM85865;BAF83493;CAE51865;EAW53303;EAW53304;NP_525127;Q96FQ6 Hs.515714 1337578;2148476;2159542;2165754;2169838 D1S2715;D1S3030;D1S3344;WI-16548;c01502s AAG13;DT1P1A7;MGC17528;S100F OTTHUMP00000032893;S100 calcium-binding protein A16;aging-associated gene 13 protein;aging-associated protein 13;protein S100-A16;protein S100-F protein-coding ENSG00000188643 20441 11529 PROVISIONAL 1312636 S100A13 S100 calcium binding protein A13 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q21 151857899 151873192 - 153591275 153606568 - 1580863;6480464 8878558;18259052;17374362;17077500;16773219;16710414;16341674;15821778;15635413;15489334;15033494;14702039;12746488;12645008;12477932;12135982;12118070;11432880;10722710;9712836;8985590;7759097;7566098;16169070;10051426;16145699;19284995;20208480;20863990;22939629;22863883;21270123;21139048;21890473;21906983 6284 Q99584 AA366085;ABBA01049440;ABBA01049441;AK097132;AL162258;AMYH01001405;AY987392;BC000632;BC068064;BC070291;BM762088;BM913375;BT006724;BX470102;BX472819;CH471121;CK817939;CR542149;NM_001024210;NM_001024211;NM_001024212;NM_001024213;NM_005979;X99920 AAH00632;AAH68064;AAH70291;AAP35370;AAX89402;CAA68188;CAG46946;EAW53296;EAW53297;EAW53298;EAW53299;EAW53300;NP_001019381;NP_001019382;NP_001019383;NP_001019384;NP_005970;Q99584 Hs.516505 1671153;1681554;1688462;1771256;1774589;2157466;2217928;5017578 RH41891;RH69545;RH71309;RH91554;S100A1;S100A1_2878;SHGC-34733;STS-X58079 OTTHUMP00000034802;S100 calcium-binding protein A13;protein S100-A13 APPROVED protein-coding ENSG00000189171 10490 03586 601989 REVIEWED 1353498 S100A2 S100 calcium binding protein A2 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008] 1 1 q21 151800208 151804930 - 153533584 153538306 - 1580863;6480464 9481475;15313892;19297317;19118029;18773213;18669640;18656279;18388131;17874182;17239974;17123307;17077493;17067748;17032501;16710414;16449968;16367903;16273244;16232198;16189514;16015083;15941720;15489334;15467767;14519656;12477932;12445212;11956617;11813862;11260185;10951287;10837826;10788426;10429967;9668057;9468301;9274623;9092943;8701470;8341667;7759097;1372446;21029261;1286667;20591429;20677014;15171681;19344608;19376121;19601998;19725154;20823519;21443102;23344957;20949468;21139048;22747445 6273 P29034;Q5RHS7;R4GN49 ABBA01049435;AF086003;AMYH01001404;AMYH01001405;AW195797;BC002829;BC105787;BQ953250;BX470102;CH471121;M87068;NM_005978;Y07755 AAH02829;AAI05788;CAA69033;EAW53305;NP_005969;P29034 Hs.516484 2217930 S100A2_2698 CAN19;MGC111539;S100L OTTHUMP00000032967;S100 calcium-binding protein A2;protein S100-A2 APPROVED protein-coding ENSG00000196754 10492 01508 176993 REVIEWED 1343763 S100A7L2 S100 calcium binding protein A7-like 2 1 1 1 q21.3 126480727 126483759 - 151676095 151679127 - 153409471 153412503 - 16710414;12664160 645922 J3KQP3;Q5SY68 ABBA01049433;AL591704;AMYH01001403;BR000043;NM_001045479 AAI48519;AAI53116;FAA00016;NP_001038944;Q5SY68 Hs.647713 S100a7b S100 calcium-binding protein A7-like 2;protein S100-A7-like 2 protein-coding ENSG00000197364 21655 VALIDATED 1353559 S100A7P1 S100 calcium binding protein A7 pseudogene 1 1 1 q21.3 126470739 126472132 - 153399484 153400877 - 12923069;12664160;1940442 127481 Q5M770 ABBA01049433;AL591704;AMYH01001403;BR000043;NG_009595 FAA00015 S100A7L3;s100a7d pseudo 21654 INFERRED 2303473 S100A7P2 S100 calcium binding protein A7 pseudogene 2 1 1 q21.3 126488639 126490393 + 153417385 153419139 + 12923069;12664160;1940442 375027 ABBA01049433;AL591704;AMYH01001403;BR000043;NG_009592 S100A7L4;s100a7e pseudo 21656 INFERRED 1319090 S100A5 S100 calcium binding protein A5 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008] 1 1 q21 151776247 151780865 - 153509623 153514241 - 1580863;6480464 16710414;12645008;12477932;11855835;11510959;10882717;9920416;8701470;8341667;7759097;12118070;19536568;19601998;19668339 6276 P33763;Q52LE7 ABBA01049435;AMYH01001404;BC093955;BC093957;BX470102;CH471121;NM_002962;Z18949;Z18950;Z18954 AAH93955;AAH93957;CAA79472;CAA79475;CAA79479;EAW53316;EAW53317;NP_002953;P33763 Hs.2960 1647585;2126893;5120285 GDB:230308;RH70249;STS-Z18949 S100D OTTHUMP00000015470;S100 calcium-binding protein A5;protein S100-A5 APPROVED protein-coding ENSG00000196420 10495 01506 176991 REVIEWED 732253 S100A3 S100 calcium binding protein A3 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008] 1 1 q21 151786433 151788358 - 153519809 153521734 - 1580863;6480464 17353931;18083705;16710414;15489334;12477932;12470658;12136135;12045193;10837826;9920417;9920416;9468301;9274623;8701470;8672544;8341667;7759097;7673133;19601998;20083228;21377473 6274 P33764 ABBA01049435;AMYH01001404;BC012893;BT006955;BX470102;CH471121;CR542163;CR542185;NG_027993;NM_002960;Z18948;Z18950 AAH12893;AAP35601;ABM82359;ABM85534;CAA79471;CAA79473;CAG46960;CAG46982;EAW53306;EAW53307;EAW53308;EAW53309;NP_002951;P33764 Hs.557609 2127128;2145315;5120287 D1S3498;GDB:230309;RH70973 S100E OTTHUMP00000015474;S100 calcium-binding protein A3;protein S100-A3 APPROVED protein-coding ENSG00000188015 10493 01507 176992 REVIEWED 1346957 S100A7A S100 calcium binding protein A7A 1 1 1 q21.3 126460255 126466956 + 151655624 151662325 + 153389000 153395701 + 1580863;6480464 17620096;18606705;17625598;16710414;16682778;12923069;12664160;12477932;11230159;1940442;18029348;22747601 338324 Q86SG5 ABBA01049433;AJ243672;AJ243673;AL591704;AMYH01001403;AY189117;AY189118;AY189119;BC040254;BR000043;CH471121;NM_176823 AAI48487;AAI53083;AAO40032;AAO40033;AAO40034;EAW53328;EAW53329;FAA00014;NP_789793;Q86SG5 Hs.442337 5126858 RH71389 NICE-2;S100A15;S100A7L1;S100A7f OTTHUMP00000015324;S100 calcium binding protein A15;S100 calcium-binding protein A15;S100 calcium-binding protein A7-like 1;S100 calcium-binding protein A7A;protein S100-A7A protein-coding ENSG00000184330 21657 15290 VALIDATED 69040 S100A4 S100 calcium binding protein A4 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 1 1 q21 151782719 151784906 - 153516095 153518282 - 6480464;7204682 17964289 8204608;14679171;18029348;19513503;19506550;19399660;19248116;19194111;19059703;19043399;19023966;19011242;18803290;18784356;18718015;18694925;18618724;18554396;18548584;18435928;18410126;18350635;18154362;17673926;17638890;17565747;17550972;17504119;17497677;17328050;17276942;17223348;17219414;17200116;17051636;17032501;16990429;18783790;16984379;16948116;16865243;16710414;16685438;16571622;16554030;16489073;16367903;16265347;16243835;16097057;15956747;15852272;15788416;15781852;15713996;15635413;15608682;15579771;15489334;15479433;15334597;15289939;15116098;14713104;14640694;14606958;14531065;12942774;12756252;12645008;12532418;12517790;12477932;12445462;12439718;12379109;12239456;12168821;12147716;11994292;11875708;11836260;11786397;11752788;11527429;11278647;11278510;10869553;10753920;9926943;9405067;8341667;8120097;7759097;7607566;3155863;1482346;1384693;1329089;16189514;16169070;15543138;22460785;21289293;22287060;20685652;20591429;20489045;16712791;20332215;20855150;20367639;21110983;20712050;12118070;15033494;15171681;17851788;18246798;19596927;19601998;19615802;19641515;19653048;19666596;19682073;19703228;19713532;19799859;19808905;19820999;19917604;19945782;19956863;20019188;20050020;20070253;20204297;20346360;22934964;20515499;20093727;21169409;21218086;20719498;21352421;21195708;22863883;21360024;21514449;22939629;21712367;20000738;21721535;22408350;21889495;21924240;21691200;18781797;21837681;21987572;21963094;23085231;21890473;21906983;23543443;22483112;21618579;21986134;22147918;22200787;21603862;22126861;22258387;22458600;23383075;20650761;22878175;22613408;23026527;22740693;22569556;23149742;23162804 6275 P26447 ABBA01049435;AK292083;AMYH01001404;AV735911;AY762982;BC000838;BC016300;BC024974;BX470102;CB109749;CH471121;CR450345;M80563;NG_027993;NM_002961;NM_019554;Z18950;Z33457 AAA51920;AAH00838;AAH16300;AAV74399;ABM83714;ABM87034;BAF84772;CAA79474;CAA83880;CAG29341;EAW53310;EAW53311;EAW53312;EAW53313;EAW53314;EAW53315;NP_002952;NP_062427;P26447 Hs.654444 2126893;2127128;2145315;2155068 D1S3498;RH11477;RH70249;RH70973 18A2;42A;CAPL;FSP1;MTS1;P9KA;PEL98 OTTHUMP00000015467;OTTHUMP00000015468;S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog);S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog);calvasculin;fibroblast-specific protein-1;leukemia multidrug resistance associated protein;malignant transformation suppression 1;metastasin;placental calcium-binding protein;protein Mts1;protein S100-A4;s100 calcium-binding protein a4 APPROVED protein-coding ENSG00000196154 10494 15914 114210 REVIEWED 1321093 S100A7 S100 calcium binding protein A7 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. This protein is markedly over-expressed in the skin lesions of psoriatic patients, but is excluded as a candidate gene for familial psoriasis susceptibility. The exact function of this protein is not known. [provided by RefSeq, Jul 2008] 1 1 q21 151696844 151699761 - 153430220 153433137 - 1580863;6480464 8618016;19707901;18373864;18320059;18263703;18223693;17986321;17560571;17418446;17159909;17136347;17033192;16675044;16236163;15717926;15615860;15489334;15201992;12923069;12704215;12702588;12664160;12477932;12032852;11258932;10737800;10331666;10191275;10190323;9562557;8701470;8618345;8526920;7759097;1286667;17353931;18606705;18588753;8077703;12421467;12839573;15217497;15568027;10026247;16357139;1940442;15740587;16082188;10595935;9693957;11782356;19162067;19159013;19079183;18754038;18634149;18625016;22220760;20628624;16799092;17625598;18029348;19249126;19601998;19810752;19844956;20101226;20226301;15994944;21145461;20689826;22795619;20571488;21187770;21324122;20217214;20727496;21182205;21132011;22901663;21283546;20811636;21551409;21730203;21740085;21800051;21139048;22016394;22158945;21501383;22230654;17110338;21642987;22126777;22810585;23349634;22641350;23151615;23285311;23228205;23455922;23300877;19380743;22189627;22772316 6278 P31151 ABBA01049434;AF050167;AJ012825;AL591704;AMYH01001403;AW238300;BC034687;BF090388;BR000043;BX476368;CH471121;CR542164;M86757;NM_002963;S81991 AAA60210;AAH34687;ABM82203;ABM85391;CAC20409;CAG46961;EAW53327;FAA00017;NP_002954;P31151 Hs.112408 5126858 RH71389 PSOR1;S100A7c OTTHUMP00000015327;S100 calcium-binding protein A7 (psoriasin 1);protein S100-A7;psoriasin 1;s100 calcium binding protein a7 (psoriasin 1) APPROVED protein-coding ENSG00000143556 10497 02645 600353 REVIEWED 1354055 S100A6 S100 calcium binding protein A6 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008] 1 1 q21 151773700 151775341 - 153507076 153508717 - 1580863;6480464 22295074;7821789;10913138;12577318;12152788;16130169;19297317;19048101;18803400;18753141;18714402;18669640;18620780;18612712;18201235;17726019;17721932;17495951;17466273;16710414;16288473;16278400;16157226;15878395;15489334;14584893;12859951;12746458;12601007;12477932;12239456;12042313;11937060;11925593;10037139;9925766;8701470;8341667;7759097;3755724;22450162;3036810;2775283;2448309;1999197;1482346;1384693;1299619;9578461;20591429;12118070;12805373;18029348;18765292;19062716;19542912;19601998;19712129;19724273;19834903;19888321;21319273;20629554;20596636;20581057;22939629;21039744;21963094;23000965;23344957;23537648;22681645;21663912;21938494;20213445;21139048;21693764;21906983;21987572;21923636;22192801;22560296;22505232;23076148;23095053 6277 P06703;R4GN98 ABBA01049435;AK312088;AMYH01001404;AY034480;BC001431;BC009017;BF726732;BT006965;BX470102;CH471121;D28464;J02763;M14300;M18981;NM_014624 AAA35886;AAA51905;AAA51906;AAH01431;AAH09017;AAK59702;AAP35611;ABM85861;ABW03747;BAA05830;BAG35024;EAW53318;EAW53319;EAW53320;EAW53321;EAW53322;EAW53323;EAW53324;EAW53325;EAW53326;NP_055439;P06703 Hs.275243 1647585;1659729;1743157 GDB:277192;RH11047;STS-Z18949 2A9;5B10;CABP;CACY;PRA MLN 4;OTTHUMP00000015472;OTTHUMP00000015473;S100 calcium-binding protein A6 (calcyclin);calcyclin;growth factor-inducible protein 2A9;prolactin receptor-associated protein;protein S100-A6;s100 calcium binding protein a6 (calcyclin) APPROVED protein-coding ENSG00000197956 10496 00237 114110 REVIEWED 1349531 S100A8 S100 calcium binding protein A8 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq, Jul 2008] 1 1 q21 151629132 151630173 - 153362508 153363664 - 1580863;2316903;633930;2316912;2316906;6480464 19151078;8343166;15221771;17970044 2149559;17353931;3313057;22127564;19248102;19210342;19201880;19186948;19087201;19079333;18922970;18832721;18786929;18689872;18588753;18537548;18374411;18339893;18060880;18044712;18030206;17936757;17895549;17852869;17787039;17644317;17636430;17557234;17469085;17429438;17197440;17090475;17069562;17050004;16979015;16806487;16710414;16690079;16613612;16573830;16297907;16216873;16169070;16033829;15816004;15642721;15598812;15489334;15331440;15069705;13130482;12937135;12833525;12748257;12719414;12710851;12704215;12697438;12645005;12626582;12553726;12489193;12480428;12477932;12218151;12137245;21334078;11895856;11867565;11708798;11564187;11435486;11141076;11058579;10837826;10771424;10571075;9920411;8701470;8619876;8423249;8400238;8341667;7849642;7759097;3561500;3405210;3267695;2039599;1326551;1286667;19232095;19284577;19440546;19466434;19530996;19596235;19601998;19608587;19615732;19670424;19695969;19752232;19755614;19823685;19898558;19935772;20172281;20594128;20555353;20219570;21067798;22282267;22586326;20936779;20096140;20819668;19957061;20717964;20833513;21072048;21192933;21434523;21239714;21832049;9867828;21228116;20811636;21472666;22505354;21463326;21592353;21182205;22990118;21799753;21900206;21961943;21912088;22420238;21139048;21492422;22209981;22318783;22139384;21766173;21791097;22381691;22363402;21628590;22555971;22634002;21319273;22683330;19505873;21145461;20391533;22728165;22806545;22622474;23426492;23299480;23018243;23248262;19380743;22660800;22446997;22808130 6279 P05109 A12027;ABBA01049433;AK291328;AL591704;AMYH01001403;BC005928;BT007378;BU935536;CH471121;CR407674;M21005;NM_002964;X06234;Y00278 AAA36327;AAH05928;AAP36042;ABM84421;ABM87366;BAF84017;CAA01001;CAA29580;CAA68390;CAG28602;EAW53330;EAW53331;NP_002955;P05109 Hs.416073 2135165;2183337 RH11552;RH68221 60B8AG;CAGA;CFAG;CGLA;CP-10;L1Ag;MA387;MIF;MRP8;NIF;P8 MRP-8;OTTHUMP00000015329;S100 calcium-binding protein A8 (calgranulin A);calgranulin A;calgranulin-A;calprotectin L1L subunit;cystic fibrosis antigen;leukocyte L1 complex light chain;migration inhibitory factor-related protein 8;protein S100-A8;s100 calcium binding protein a8 (calgranulin a);urinary stone protein band A APPROVED protein-coding ENSG00000143546 10498 00471 123885 REVIEWED 1348648 S100Z S100 calcium binding protein Z Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008] 5 5 5 q13.3 72040311 72111532 + 76181582 76252812 + 76145826 76217056 + 737633;1580863;6480464 12477932 15489334;11747429;19861958 170591 Q8WXG8 ABBA01061973;ABBA01061974;AC027342;AC114962;AF437876;AMYH01015422;AMYH01015423;BC022320;BX281742;CD368348;CH471084;NM_130772 AAH22320;AAL30893;EAW95783;EAW95784;NP_570128;Q8WXG8 Hs.482563 1335306;1683415;1728403;1763837;7185563 D5S424;G63484;RH65223;SHGC-147501 Gm625;S100-zeta OTTHUMP00000222029;OTTHUMP00000222030;S100 calcium-binding protein Z;protein S100-Z APPROVED protein-coding 30367 15291 610103 VALIDATED 1348454 S11 surface antigen (X-linked) 2 6267 10505 1345821 S12 surface antigen (X-linked) 3 6268 10506 737117 S100B S100 calcium binding protein B The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008] 21 21 q22.3 46842959 46849463 - 48018531 48025035 - 1580863;5508762;5508764;5508775;5508777;5508779;5508782;5508821;2324684;5508787;5508793;5508799;2325647;5508837;5508761;5508825;5508797;5508798;5508822;5508763;5508767;5508769;5508786;5508788;5508796;5508824;5508841;5508853;2316906;5508765;5508766;5508770;5508781;5508790;5508801;5508818;5508819;5508823;5508832;5508838;5509052;5509053;5508780;5508834;5508836;6480464;7204682 21743141;21695352;21080947;21070816;21034449;20847541;14583344;18068619;20105309;19959621;19539717;19910580;17944636;21976236;21663912;19790244;19705461;12076997;21725169;21371524;21293918;20304889;20043976;19809934;21843601;17376896;15581912;17970044;21423669;21402140;21130083;20855493;20002528;19505208;15105355;14707571;21885671;19147496;17706250;15464860;14504167;20953641;18840784;18708122;17964289 12477932;12470955;12469878;12377780;12351263;12042313;11969402;11888280;11809917;11527429;11312263;11264299;10876243;10830953;10510252;10399917;9925766;9923610;9883272;9774336;9335118;8894274;8750867;8701470;8341667;7759097;7566098;6487634;4031854;2964086;2833519;2530061;2394738;1998503;9519411;10913138;8202493;19497163;19330775;19297317;19229202;19221847;19216510;19205880;19202335;19183802;19103440;19086053;19042077;18982242;18948614;18939940;18854308;18805362;18783450;18706914;18614943;18596106;18587628;18552513;18494933;18454941;18451356;18445708;18385926;18384084;18337650;18193148;18181515;18173564;18039581;17984939;17984926;17984171;17955279;17726019;17719207;17705023;17678654;17661202;17660747;17624933;17579612;17536784;17525977;17408991;17396138;17348038;17264538;17199889;17091777;17043297;17023485;17020600;17010455;17008613;16931519;16511125;16340181;16143320;15820773;15781852;15708543;15670788;15556616;15489334;15306236;15257081;15236402;15178678;14997170;14967825;14699277;14675567;14661952;14642437;14530578;12927678;12746458;12645009;12636931;12630517;12569284;12527118;12505619;12493777;12490005;12480931;16189514;10394361;20587415;20591429;21303299;20950652;21688665;20559426;20473040;20036852;20036866;21273622;20614004;20708613;20581773;22224444;12118070;15033494;19011512;19220958;19307814;19468240;19482672;19487970;19558426;19636631;19654082;19671853;19674846;19812958;19939849;20042890;20237496;20351179;20398908;20437790;3111527;20509936;20592382;20093730;10531386;20604725;21079180;22348227;22916238;20716661;20947022;21376255;21311479;20628824;23169921;23161189;21455324;21553520;21458434;21601568;21628886;22982200;21368691;21738758;21112154;21587126;21473859;21487066;21447379;21674567;21932834;20686797;21779383;21144594;15840729;21620650;21906477;22114731;22306257;22935566;23031665;23380091;21504113;21640093;21714070;21810220;21858537;21861268;21861214;22286962;22019077;22025532;22177239;22011044;22286170;22285378;22326439;22565174;22782342;23141161;23208248;23030834;23406753;23130680;22322856;23163123 6285 A8MRB1;P04271 AA310307;ABBA01021771;ABBA01021772;AMYH01012341;AP000217;AP000339;AP001760;BC001766;BC041935;CH471079;CR542123;EB386131;M59488;NM_006272 AAA60367;AAH01766;ABM83417;ABW03496;CAG46920;EAX09267;EAX09268;EAX09269;EAX09270;NP_006263;P04271 Hs.422181 1741779;1741797;1745379;2116834;2217932 GDB:185164;GDB:185173;GDB:603920;S100B_3127;SHGC-5965 NEF;S100;S100-B;S100beta OTTHUMP00000115888;OTTHUMP00000174958;S-100 calcium-binding protein, beta chain;S-100 protein beta chain;S-100 protein subunit beta;S100 beta;S100 calcium binding protein, beta (neural);S100 calcium-binding protein B;S100 calcium-binding protein, beta (neural);protein S100-B;s100 protein, beta polypeptide APPROVED protein-coding 10500 01505 176990 REVIEWED 1344914 S100G S100 calcium binding protein G This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. [provided by RefSeq, Jul 2008] X X p22.2 16578202 16582712 + 16668281 16672791 + 6480464;7204685 20943758 1610358;15772651;15489334;15217781;12477932;11076863;10417310;8308886;8045984;7817802;2009668;1379540;17712966;20214988;23132313 795 P29377 ABBA01071444;ABBA01071445;AL445467;AMYH01022111;BC112174;CH471074;L13042;L13220;NG_013229;NM_004057;X65869 AAA35637;AAA35638;AAI11918;AAI12175;CAA46699;EAW98916;NP_004048;P29377 Hs.639 1652489;1701730;1745109 GDB:594585;GDB:604580;RH1707 CABP;CABP1;CABP9K;CALB3;MGC138379 OTTHUMP00000022988;S100 calcium-binding protein G;calbindin 3, (vitamin D-dependent calcium-binding protein);calbindin D9K;calbindin-D9K;protein S100-G;vitamin D-dependent calcium-binding protein, intestinal APPROVED protein-coding ENSG00000169906 1436 02360 302020 REVIEWED 1352981 S100A9 S100 calcium binding protein A9 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. [provided by RefSeq, Jul 2008] 1 1 q21 151596954 151600127 + 153330330 153333503 + 1580863;2316903;633930;2316906;6480464 19151078;8343166;17970044 21380506;2149559;17353931;17620599;3313057;18029348;19248102;19203362;19201880;19186948;19165585;19142861;19122197;19087201;19079333;19059406;18927283;18922970;18803290;18786929;18784990;18689872;18588753;18537548;18339893;18060880;18044712;18030206;17936757;17895549;17852869;17787039;17636430;17429438;17328050;17237603;17222807;17187679;17126494;17095618;17090475;17050004;16979015;16806487;16710414;16690079;16682612;16613612;16573830;16297907;22074005;22127564;21334078;16253391;16216873;16033829;15905572;15740587;15642721;15598812;15489334;15277376;15075348;15069705;15040889;14654085;13130482;12937135;12833525;12748257;12748056;12719414;12710851;12704215;12645005;12626582;12553726;12489193;12477932;12218151;12167632;12137245;11867565;11851337;11803621;11708798;11564187;11058579;10837826;10612291;10551823;10464253;9920411;9570563;8701470;8423249;8400238;8341667;7759097;3405210;2656677;2478889;1562590;1286667;20550547;20555353;21376380;20594128;20812987;20936779;20219570;20231196;21067798;21738950;22282267;22457725;22804476;22583932;16799092;19232095;19284577;19440546;19534726;19601998;19608587;19670424;19752232;19755614;19762566;19823685;19935772;20098622;20103766;20226301;20237496;22029973;22691358;20819668;19957061;21192933;20422274;21239714;17803295;21325622;22838504;22939629;22962574;23135911;9867828;20130364;21369941;21592353;21228116;19156129;21839816;22505354;23029420;16196087;21472666;21799753;22093455;22864818;23165982;23431180;23483999;21139048;21492422;22209981;22318783;22253789;21766173;21791097;21782178;21912088;22145905;22555971;22634002;22230807;22304731;22363402;21145461;22683330;17110338;23223301;23299480;23349634;23354417;23455922;22622474;23426492;23018243;23248262;22446997;19380743;22660800;22822112 6280 P06702 A12029;A12031;A12032;ABBA01049433;AF086362;AF237581;AF237582;AK311882;AL591704;AMYH01001403;BC047681;CH471121;CR542207;CR542224;M21064;M26311;NM_002965;X06233 AAA36326;AAA68480;AAF62536;AAF62537;AAH47681;BAG34823;CAA01002;CAA01003;CAA01004;CAA29579;CAG47003;CAG47020;EAW53333;EAW53334;NP_002956;P06702 Hs.112405 1744097;2109793;2124061 D1S3414;GDB:387149;S100A9_3034.2 60B8AG;CAGB;CFAG;CGLB;L1AG;LIAG;MAC387;MIF;MRP14;NIF;P14 MRP-14;OTTHUMP00000015331;S100 calcium-binding protein A9 (calgranulin B);calgranulin B;calgranulin-B;calprotectin L1H subunit;leukocyte L1 complex heavy chain;migration inhibitory factor-related protein 14;protein S100-A9;s100 calcium binding protein a9 (calgranulin b) APPROVED protein-coding ENSG00000163220 10499 00472 123886 REVIEWED 1604319 S100PBP S100P binding protein This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 1 1 1 p35.1 31551826 31593116 + 33055763 33097063 + 33283043 33324480 + 6480464 22330678;15632002;18089492;14702039;12477932;19322201;16344560;21890473 64766 A8MTZ6;E9PIY5;E9PIZ7;E9PL86;E9PMK1;E9PSA0;Q96BU1 AA557330;ABBA01023397;ABBA01023398;AC114493;AK022965;AK025811;AK090711;AMYH01000472;AMYH01000473;BC015175;BX647667;BX647916;CH471059;DB092234;NG_031988;NM_001256121;NM_022753 AAH15175;ACE86836;ACE87523;ACE87833;ACE87834;ACT64357;ACT64361;BAB14335;BAG52216;CAI46038;EAX07503;EAX07504;EAX07505;NP_001243050;NP_073590;Q96BU1 Hs.440880;Hs.734633 1720397;2122249;2152099;2153265;2159072;2164199;5014019;5015961;5016596;5021345;5022322 D11S2560;D15S1477;D1S2569;D5S2354;G29156;G59001;GDB:631802;MARC_14371-14372:1007069032:1;SHGC-74535;SHGC-74555;SHGC-74735 DKFZp313K2325;FLJ12903;S100PBPR OTTHUMP00000004045;OTTHUMP00000004046;OTTHUMP00000004047;OTTHUMP00000235380;S100P binding protein 1;S100P-binding protein APPROVED protein-coding ENSG00000116497 25768 07803 611889 REVIEWED 1344466 S7 surface antigen (chromosome 7) 2 6264 10509 1344746 S100P S100 calcium binding protein P The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008] 4 4 p16 6746467 6749798 + 6695566 6698897 + 1580863;6480464 19018761;18725408;18575778;18452169;18162774;17875703;17539915;17486081;17448597;17000674;16189514;16061848;16047742;15489334;15213440;14716296;1633809;15632002;15313892;19092634;19073601;21663912;14672411;14617629;12808036;12746458;12507480;12477932;12042313;12021435;11747429;11127925;10924150;9784376;8701470;8341667;7759097;1540168;20382408;21054985;21177863;21325798;19796763;18029348;15171681;17587138;19111582;19885547;20153506;20198348;20890108;21317706;21412073;23344957;22939629;21327297;21751241;22399300;22147918;21044950;22552710;22585604;21963094;23007696;23251661 6286 P25815 ABBA01012727;AC093323;AF539739;AI202505;AMYH01013918;AY423724;BC006819;BI259919;BT007289;CH471131;NM_005980;X65614 AAH06819;AAO41114;AAP35953;AAS00487;ABM82014;ABM85196;CAA46566;EAW82384;NP_005971;P25815 Hs.2962 1649204 D4S1380 MIG9 OTTHUMP00000115574;S100 calcium-binding protein P;migration-inducing gene 9;migration-inducing gene 9 protein;protein S100-E;protein S100-P APPROVED protein-coding 10504 02792 600614 REVIEWED 1343937 S1PR2 sphingosine-1-phosphate receptor 2 This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. This protein participates in sphingosine 1-phosphate-induced cell proliferation, survival, and transcriptional activation [provided by RefSeq, Jul 2008] 19 19 p13.2 10193109 10202948 - 10332109 10341948 - 68254;1580863;6480464;6484113 8087418 18088600;22244964;10617617;19139947;18922980;18765664;18658144;18612546;17431187;15764699;15489334;15208267;12648236;12477932;12445827;11967277;11915348;11331101;10908314;10818441;10488065;10383399;9988698;8878560;17710232;22547907;21289286;19903857;19948975;20194630;18577758;22889737;23589284;23106337;21145832;23300082 9294 O95136 ABBA01029944;AC011511;AF034780;AMYH01009467;AY262688;BC069598;BF513287;BG055846;CH471106;NG_028016;NM_004230 AAC98919;AAH69598;AAP20652;EAW84081;EAW84082;NP_004221;O95136 Hs.655405 1679425;1732219;2153244;2186430;5015619;5015861;5015879;5016478;5020740;5020881;5021369;5022651;5024413;5037552;5492557;7185938 D10S16;D11S2921;D11S3114;D19S535;D8S2279;GDB:314949;GDB:434012;L17709;L17796;L17809;L17877;RH68372;RH98787;STS-H11254;UniSTS:481639 AGR16;EDG-5;EDG5;Gpcr13;H218;LPB2;S1P2 S1P receptor 2;S1P receptor EDG5;S1P receptor Edg-5;endothelial differentiation G-protein coupled receptor 5;endothelial differentiation, sphingolipid G-protein-coupled receptor, 5;sphingosine 1-phosphate receptor 2;sphingosine 1-phosphate receptor Edg-5 APPROVED protein-coding 3169 05488 605111 VALIDATED 1346165 S1PR1 sphingosine-1-phosphate receptor 1 The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. [provided by RefSeq, Jul 2008] 1 1 p21 101475043 101479662 + 101702305 101707076 + 1304283;1580863;1581747;1357201;1580913;6480464;6484113 14711826;11557736;11549339;16403835 18172456;17975119;17918267;17331465;17237497;16963454;16926156;16344560;16319133;16195373;16148028;15728452;15710622;15699128;15626732;14988150;14500646;12742228;12480944;12477932;12087059;12038970;11967277;11915348;11915345;11861422;11854302;11741892;11698050;11583630;11230698;11214319;8626678;19286607;19158154;19150609;19023099;18936953;18849324;18773427;18760838;18713968;18658144;18644866;18606817;18541717;18247041;21660960;11032855;10982820;10921915;10818441;10555146;10488065;10383399;9705355;9488656;9409733;8889548;2160972;20348395;19913121;20592280;20624651;20628086;19293149;19633297;19810093;19948975;20036214;20081804;18577758;20566754;20648639;20951945;2834384;20501673;19778812;22745305;22837470;20889557;22975327;23135269;22889737;22898216;23033271;20416181;21145832;21719706;21613209;22624714;21555855;22100314;22104144;22547907;22623751;22326262;22334704;22422617;23300082;21988832;23192342;23212923;22595806 1901 B4DLH9;P21453 ABBA01045430;AF022137;AF233365;AK297005;AK312493;AL109741;AMYH01000827;AY011725;BC018650;BI598518;BU677564;CF994197;CH471097;CR541786;CR542269;CR977007;DB132417;DB572979;M31210;NG_016181;NM_001400 AAA52336;AAC51905;AAF43420;AAH18650;AAK01993;BAG35395;BAG59541;CAG46585;CAG47065;EAW72927;EAW72928;NP_001391;P21453 Hs.154210 1667629;1671231;1690676;1734620;1735812;1794636;1797102;2168030;2168426;2181286 AL009411;D1S1774E;D1S1917E;D1S2185;D1S3362;EDG1;PMC333404P1;RH69118;RH92741;SHGC-75229 CD363;CHEDG1;D1S3362;ECGF1;EDG-1;EDG1;FLJ58121;S1P1 OTTHUMP00000012525;S1P receptor 1;S1P receptor Edg-1;endothelial differentiation G-protein coupled receptor 1;endothelial differentiation, sphingolipid G-protein-coupled receptor, 1;sphingosine 1-phosphate receptor 1;sphingosine 1-phosphate receptor EDG1;sphingosine 1-phosphate receptor Edg-1 APPROVED protein-coding ENSG00000170989 3165 03578 601974 REVIEWED 5013868 SAA2-SAA4 SAA2-SAA4 readthrough This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 11 p15.1 18252902 18270221 - 20967262;20889312 100528017 ABBA01061059;AC090099;AMYH01003419;BG616641;BX117371;NM_001199744 NP_001186673 Hs.731376 1779173;2176097 STS-M81349;STS-N22938 SAA2-SAA2 protein;SAA2-SAA2 read-through transcript APPROVED protein-coding ENSG00000255071 39550 VALIDATED 1346983 SAA3P serum amyloid A3 pseudogene 11 11 11 p15.1 18266336 18269996 - 18090610 18094695 - 18134019 18137679 - 1580863;6480464 14718574;12589816;8325654;2558975;1755958 6290 ABBA01061060;AC090099;AMYH01003419;AY209188;NR_026576;S73444;X13895 AAO48437;CAA32096 Hs.454496 1671011;1852394 RH71466;SAA3 SAA3 pseudo ENSG00000166787 10515 PROVISIONAL 1352226 SAA@ serum amyloid A1 cluster 1550545 6287 10512 1312457 S1PR4 sphingosine-1-phosphate receptor 4 This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008] 19 19 p13.3 3129766 3131330 + 3178736 3180330 + 1580863;6480464;6484113 10679247;9790765;18713968;15489334;15298705;12767884;12761884;12648236;12477932;12401211;12270137;12115604;11919175;10753843;2834384;19293149;18577758;20686109;20837468;22119461;22460268 8698 O95977 ABBA01002802;AC011547;AJ000479;AMYH01009301;AY322537;BC014970;CH471139;FJ200495;NM_003775 AAH14970;AAP84350;ACO54892;CAA04118;EAW69336;EAW69337;NP_003766;O95977 Hs.662006 1340883;2106475 D19S120;EDG6_4074 EDG6;LPC1;S1P4;SLP4 S1P receptor 4;S1P receptor Edg-6;endothelial differentiation G-protein coupled receptor 6;endothelial differentiation, G protein coupled receptor 6;endothelial differentiation, G-protein-coupled receptor 6;endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6;sphingosine 1-phosphate receptor 4;sphingosine 1-phosphate receptor Edg-6 APPROVED protein-coding ENSG00000125910 3170 04779 603751 REVIEWED 1352881 S1PR3 sphingosine-1-phosphate receptor 3 This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008] 9 9 q22.1-q22.2 90796182 90809745 + 91606324 91620070 + 632521;1580863;6480464;6484113 9409733 21660960;23142484;10555146;10617617;8649355;18658144;18612546;18502815;17395891;17331465;16527273;15894172;15489334;12763936;12648236;12477932;12039947;11915348;11854302;10908314;10818450;10818441;10818438;10794715;10712250;10683250;10537322;10488065;10383399;10216094;9988698;8878560;19913121;20628086;19309361;19633297;19748727;20648639;18577758;2834384;22771388;22889737;20980685;20889557;23589284;21145832;20979115;21652634;22118674;22547907;16344560;23392686;22308044;22331829;22344462;22595806 1903 Q99500 ABBA01004617;AF022139;AK312798;AL772202;AL832194;AMYH01021494;AY322540;BC060827;BC069579;BM990167;CH471089;DA722994;DR763542;NM_005226;X83864 AAC51906;AAH60827;AAH69579;AAP84353;BAG35658;CAA58744;EAW62758;NP_005217;Q99500 Hs.585118 1652537;1721539;1791918;2151643;5015619;5015861;5016478;5020740;5022200;5037552;5492565;7185938 D10S16;D11S3114;D8S2279;G59774;GDB:434012;L17809;L18426;PMC133668P1;RH48303;RH66805;UniSTS:481689 EDG-3;EDG3;FLJ37523;FLJ93220;LPB3;MGC71696;S1P3 G protein-coupled receptor, endothelial differentiation gene-3;OTTHUMP00000215691;S1P receptor 3;S1P receptor EDG3;S1P receptor Edg-3;endothelial differentiation G-protein coupled receptor 3;endothelial differentiation, sphingolipid G-protein-coupled receptor, 3;sphingosine 1-phosphate receptor 3;sphingosine 1-phosphate receptor Edg-3 APPROVED protein-coding ENSG00000213694 3167 03572 601965 REVIEWED 1317420 SAA1 serum amyloid A1 This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Jun 2012] 11 11 p15.1 18244348 18248102 + 18287808 18291524 + 1580863;6480464 2834384;9892621;9815279;7561109;7636186;9823935;12557751;1697614;9252455;11830469;12857601;9605178;7516407;14718574;19167353;18768891;18726069;18695905;18571179;18566366;18385816;15489334;15225640;15188355;15170927;15161744;15018633;14871291;14738910;14696796;12973732;12762136;12762135;12687559;12606051;12477932;12410800;12077270;12056504;12031974;11946204;11592044;10753626;9305847;8995276;8783012;8512321;8188252;7851899;15561721;7655463;7115671;6155694;5056669;5055786;4816450;3839415;3800865;3442653;3183061;2890635;2595451;2017667;1971508;1656519;1546977;1259755;18299466;17968686;17849429;17806085;17676666;17552057;17461519;17329325;17237436;17039310;17039260;17015746;16864904;16737350;16651021;16236134;16219644;16155472;16152805;16120612;16118480;16011988;15972323;15910745;15729583;18322992;20463814;19913121;20628086;20677144;20022911;20177146;12011456;12456883;19007930;19171342;19549924;19726303;19729864;19755416;19758820;19833744;19850938;20184536;20237496;20435930;20713982;20502455;20061576;20877498;21124955;21067563;19453393;19922330;20979827;10531386;21103356;20853849;19925664;21141971;21309051;22901189;21103663;21325601;21624307;20964562;21569756;22367597;21465531;23391827;20869715;21449704;21876610;22011672;22371903;22771314;22827403;23454129;23357645;23165195;23300020;22300576;22341353;21953030;22076945;23223242;22447522;22766792;22552174;22768267;23566403 6288 E9PQD6;Q3KRB3 ABBA01061059;AC107948;AMYH01003420;BC007022;BC105796;BG533276;BG565078;BG567902;BQ691948;CD102084;CH471064;CR542241;CS081991;HC025774;HI519556;JA514413;M10906;M23698;NG_021330;NM_000331;NM_001178006;NM_199161;X51439;X51443;X56652 AAA60297;AAA64799;AAH07022;AAI05797;ABM83270;ABM83365;ABM86475;ABW03318;CAA35804;CAA35808;CAA39974;CAG47037;CAI95959;CBH19818;CBX54359;CCD62024;EAW68408;EAW68409;EAW68410;EAW68411;NP_000322;NP_001171477;NP_954630;P0DJI8 Hs.632144 1742563;1794740;1849412;1855330;2169469;5117793 GDB:197885;GDB:607573;PMC356915P1;RH11624;SHGC-32644;SHGC-6030 MGC111216;PIG4;SAA;SAA2;TP53I4 OTTHUMP00000232000;OTTHUMP00000232001;OTTHUMP00000236629;serum amyloid A protein;serum amyloid A-1 protein;tumor protein p53 inducible protein 4 APPROVED protein-coding ENSG00000173432 10513 00097 104750 REVIEWED 733271 S1PR5 sphingosine-1-phosphate receptor 5 The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008] 19 19 p13.2 10484623 10489112 - 10623418 10628668 - 632648;1580863;6480464;6484113 10799507 19211033;17918267;16303743;15530552;15489334;15057824;14702039;12648236;12477932;12427546;12234605;12044878;11705398;11331101;11069896;16344560;19474291;20950786;22541110;2834384;18577758;20085233;22715976 53637 K7EIT5;Q9H228 AB083602;ABBA01029917;ABBA01029918;AC011461;AF088014;AF317676;AF331840;AF331841;AF331842;AK074661;AK094880;AMYH01009476;AY262689;BC034703;BC067781;CH471106;CQ782630;DA747912;DA866378;DB013424;NM_001166215;NM_030760 AAG38113;AAH34703;AAH67781;AAL57041;AAL57042;AAL57043;AAP20653;ABM82216;ABM84267;ABM85400;ABM87660;BAB89315;BAC11119;CAF85890;EAW84113;EAW84114;EAW84115;NP_001159687;NP_110387;Q9H228 Hs.501561 2125763;2182020;5493858 Edg8;RH78976;SHGC-53359 EDG8;Edg-8;S1P5;SPPR-1;SPPR-2 S1P receptor 5;S1P receptor Edg-8;endothelial differentiation G-protein-coupled receptor 8;endothelial differentiation, sphingolipid G-protein-coupled receptor, 8;sphingosine 1-phosphate receptor 5;sphingosine 1-phosphate receptor EDG8;sphingosine 1-phosphate receptor Edg-8 APPROVED protein-coding ENSG00000180739 14299 05510 605146 VALIDATED 1351382 SAA2 serum amyloid A2 11 11 p15.1-p14 18223365 18226744 - 18259780 18270221 - 1580863;6480464 18977241;18385816;17601350;16737350;16152805;15170927;14871291;14718574;12857601;12557751;12477932;12456883;12077270;11485914;10524285;9892621;9823935;20889312;9605178;9252455;8995276;8889548;8783012;8188252;8159722;8089807;7827140;7686132;7636186;7561109;7516407;3950541;3800865;3183061;2890635;1971508;1697614;1656519;9815279;19913121;20628086;11991719;19729864;20237496;20379614;20967262;17207965;21103356;22300576;23223242 6289 E9PR14;G3V1D9;Q16879 ABBA01061059;AC090099;AK307163;AMYH01003419;BC020795;BC058008;BU607521;CB241029;CH471064;J03474;JA514415;L05921;M23699;M23700;M26152;NM_001127380;NM_030754;X51440;X51441;X51442;X51444;X51445;X56653 AAA64800;AAA64801;AAA85338;AAB59539;AAH20795;ADQ32164;CAA35805;CAA35806;CAA35807;CAA35809;CAA35810;CAA39975;CCD62028;EAW68412;EAW68413;EAW68414;NP_001120852;NP_110381;P0DJI9 Hs.731376;Hs.734161 1742563;1849412;1855330;2169469 GDB:197885;RH11624;SHGC-32644;SHGC-6030 OTTHUMP00000233004;OTTHUMP00000233007;OTTHUMP00000233008;OTTHUMP00000233009;serum amyloid A-2 protein;serum amyloid A2 protein-coding ENSG00000134339 10514 00098 104751 VALIDATED 5130625 SACS-AS1 SACS antisense RNA 1 13 q12 23993110 24003008 + 14702039;16344560 100506680 ABBA01007875;AK057396;AL354815;AMYH01004969;AW196964;DB022332;DB459589;DB525041;NR_103450;XR_110106;XR_133024;XR_171994 Hs.253280 FLJ32834 APPROVED miscrna ENSG00000229558 39835 VALIDATED 1607039 SAC3D1 SAC3 domain containing 1 11 11 11 q13.1 62134308 62138231 + 64564952 64568876 + 64808376 64812300 + 6480464 18838617;16344560;16239144;15342556;15322101;15302935;12477932;9110174;8619474 29901 A6NKF1;F8WC89;H0YEW7 ABBA01024137;AMYH01003716;AP003068;AU119957;BC007448;BP253859;CH471076;NM_013299;U79266 A6NKF1;AAB50210;EAW74338;EAW74339;NP_037431 Hs.23642 1655624;1664377;1782398 RH11499;RH11696;SHGC-154578 HSU79266;SHD1 SAC3 domain-containing protein 1;SAC3 homology domain-containing protein 1;Sac3 homology domain 1 protein-coding ENSG00000168061 30179 11558 VALIDATED 733012 SACM1L SAC1 suppressor of actin mutations 1-like (yeast) 3 3 3 p21.3 45668700 45724522 + 45705947 45761905 + 45730754 45786900 + 6480464 11256614;18480408;16381901;15489336;14527956;12805586;12477932;11352561;11230166;11214970;11076863;10887188;10048485;22041458;21139048;21890473 22908 B4DK71;C9J3E3;C9JV50;E9PGZ4;F8WCQ2;F8WD07;F8WDN7;Q9NTJ5 AB020658;ABBA01024721;AC098476;AJ289880;AJ297357;AK126434;AK291142;AK296421;AK301248;AL136831;AMYH01013130;BC016559;BC033581;CH471055;CR749564;DC317560;NM_014016 AAH16559;BAA74874;BAF83831;BAG54329;BAG59083;BAG62815;CAB66765;CAB95945;CAB96871;CAH18361;CAL37939;EAW64744;EAW64745;EAW64746;NP_054735;Q9NTJ5 Hs.156509 1644672;1716995;2108435;2130184;2145187;2151596 A004I38;D3S3383;RH124044;SACM1L_9284;SHGC-76897;SHGC-76902 DKFZp686A0231;KIAA0851;SAC1 OTTHUMP00000210310;OTTHUMP00000210311;phosphatidylinositide phosphatase SAC1;sac1 (supressor of actin mutations 1, homolog)-like (s. cerevisiae);suppressor of actin 1;suppressor of actin mutations 1-like protein protein-coding ENSG00000211456 17059 07587 606569 VALIDATED 1316532 SAA4 serum amyloid A4, constitutive 11 11 p15.1-p14 18209479 18214910 - 18252902 18258384 - 1579981;1580863;6480464 7775864 14718574;16335952;15489334;12477932;12410800;11256804;11169201;9815279;8995276;8889548;8783012;8325654;8188252;8159722;7686132;6411718;1740433;1439582;16189514;19913121;20536400;20628086;11752456;20967262;20855565;20237496;16712791 6291 P35542 ABBA01061059;AC090099;AK312182;AMYH01003419;AV699045;BC007026;BG569210;BU685219;CB113387;CH471064;CR541758;M81349;NM_006512;S48983 AAA60298;AAB24060;AAH07026;BAG35115;CAG46558;EAW68415;NP_006503;P35542 Hs.1955 1779173;2107561;2176097 SAA4_7869;STS-M81349;STS-N22938 C-SAA;CSAA OTTHUMP00000233012;constitutively expressed serum amyloid A protein;serum amyloid A-4 protein protein-coding ENSG00000148965 10516 00099 104752 VALIDATED 1606985 SAAL1 serum amyloid A-like 1 11 11 11 p15.1 18234206 18259954 - 18058466 18084214 - 18101890 18127638 - 6480464 15489334;12477932;16169070;19615732;23181366;22939629;20360068;22127701;19953087;21139048;21890473;21906983;22505724 113174 E9PL53;E9PMD2;E9PRZ1;G1UCX3;H0YCN7;H0YDM3;H0YEK5;J3KND1;Q96ER3 AB489136;ABBA01061060;AC090099;AK123457;AMYH01003419;BC012010;BU150462;CH471064;DR155913;NM_138421 AAH12010;BAG53907;BAK74733;EAW68418;EAW68419;NP_612430;Q96ER3 Hs.591998 2148593 SGC32688 FLJ41463;SPACIA1 OTTHUMP00000232864;OTTHUMP00000232865;OTTHUMP00000232868;OTTHUMP00000232870;protein SAAL1;synoviocyte proliferation-associated in collagen-induced arthritis 1 protein-coding ENSG00000166788 25158 13999 VALIDATED 1344330 SAI1 suppression of anchorage independence 1 6298 10523 154280 1316383 SACS spastic ataxia of Charlevoix-Saguenay (sacsin) This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 13 13 q12 22800966 22840626 - 23902965 24007841 - 1580863;6480464;7240710 14718707;10655055;18604465;18484239;18465152;18464913;18398442;17716690;17290461;16606928;16198375;15985586;15156359;15057823;14718708;14718706;14702039;12477932;11788093;10610707;9872452;20488193;20876471;16713569;19031088;19208651;19880797;19892370;21507954;20301432;20852969;17853117;20972266;21139048;21745802;21906983;22493691;15174051;16344560;19389623;19529988;19779133;20085233;21135390;21410841;21416271;21450511;21597885;21625752;22209141;22287014;22307627;22441213;22751902;22892508;23000965;23077228;23123642;23250129;23280630;8421971;22805644;22816526;23300278 26278 B2REB0;H0Y6M8;Q9NZJ4 AB018273;ABBA01007874;ABBA01007875;ABBA01007876;AF193556;AK024708;AK090599;AK125458;AL157766;AL354815;AMYH01004969;AW295072;AW296712;BC039418;BX640926;CH471075;CR749427;CR987846;DB213398;DB309987;NG_012342;NM_001278055;NM_014363 AAF31262;BAA34450;BAC03486;CAE45964;CAH18265;EAX08323;NP_001264984;NP_055178;Q9NZJ4 Hs.159492 1646670;1737493;1749301;2109795;2114092;2120715;2124522;2167386;2167388 AB056815;D13S1034;NIB226;RH45763;RH79003;SACS_9479;SHGC-110974;SHGC-37589;SHGC-53325 ARSACS;DKFZp686B15167;DNAJC29 OTTHUMP00000018109;dnaJ homolog subfamily C member 29;sacsin APPROVED protein-coding ENSG00000151835 10519 05135 270550;604490 REVIEWED 1350763 SALL1P1 sal-like 1 (Drosophila) pseudogene 1 X X X p11.23 53497848 53502810 - 49316398 49325222 - 49428331 49433293 - 10343095 139163 ABBA01063271;ABBA01063272;AC142496;AC142497;AC231643;AJ010104;AMYH01022321;NG_009881 SALL1P APPROVED pseudo 10525 INFERRED 736449 SAG S-antigen; retina and pineal gland (arrestin) Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008] 2 2 q37.1 233881207 233920440 + 234216309 234255701 + 734491;1580863;6480464;6893539;6893556;7240710 7670478;22074925;21824527 22419846;20705733;2550422;18685727;18413662;18175313;17332750;17286855;15815621;15713799;15295660;15234147;15232620;12107411;10952973;9501883;9020843;8889548;8617782;7695743;7566098;3164688;2249983;1917988;1533347;1325454;20801516;12477932;21288033;21987685;21922265;17620599;21904838;22412388;20301590;23277586 6295 A0FDN6;B7Z7L5;C9JSX4;E7ESX4;F8WCN5;P10523 AA317634;ABBA01001947;AC013726;AK302211;AMYH01011577;BC144203;BQ636469;BQ636894;BQ639030;BQ639460;BU734369;BX491422;BX537502;BX537649;BX641043;BX647821;BX647827;CH471063;DQ980618;DQ980619;DQ980620;M38064;NG_009116;NM_000541;U70962;U70976;X12453 AAC50992;AAI56657;AAP03721;AAY14861;ABJ97141;BAH13651;CAA30983;CAA30984;CAD97766;CAE46025;EAW71041;EAW71042;EAW71043;EAW71044;EAW71045;NP_000532;P10523 Hs.32721 1673522;1741897;1745881;1761557;1851567;2120331;5015861;5020948;5022576;5022578;5024413;5037552;5109281;7185938 D10S16;D1S1361;D1S1423;D1S1425;D8S2279;G35510;GDB:186559;GDB:681367;L17877;RH12582;RH18086;RH71255;SHGC-145552 DKFZp686D1084;DKFZp686I1383;RP47;S-AG 48 kDa protein;OTTHUMP00000203381;S-arrestin;arrestin 1;retinal S-antigen (48 KDa protein);retinal s-antigen;rod photoreceptor arrestin APPROVED protein-coding ENSG00000130561 10521 01625 181031;258100;613758 REVIEWED 733074 SAFB scaffold attachment factor B This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 19 19 p13.3-p13.2 5574164 5619489 + 5623046 5668489 + 1580863;6480464 1324173;14667819;19077293;18772145;18154639;17643427;17081983;16964243;16475161;16326836;16195251;16169070;15302935;15066997;15057824;14702179;14702039;14587024;14559993;12890497;12837281;12660241;12477932;12403786;11784858;11509566;11207044;11118435;10933876;10809782;10707955;10212141;9671816;9605873;9328833;8600450;21145461;21130767;21527249;20562859;17643375;18029348;19106221;19615732;19674106;19901029;19137425;15146197;16159877;22990118;22939629;22354994;22446626;19471022;21139048;21693764;21890473;21900206;21906983;22178446;19322201;21628590;15576338;22174317;22566185;19282290 6294 B7Z2F6;F5GZU3;K7EII0;K7ES42;Q15424 AB208780;ABBA01056003;AC004611;AC011499;AC134303;AK095736;AK290444;AK293152;AK294671;AK294718;AK295298;AK298707;AK299525;AK304474;AK307970;AMYH01009363;BC020309;BC032055;BC126219;BC143937;BC143938;BC143939;CH471139;CN271637;CR749251;L43631;NM_001201338;NM_001201339;NM_001201340;NM_002967;NR_037699;U72355 AAC00056;AAC14667;AAC18697;AAI26220;AAI43938;AAI43939;AAI43940;BAD92017;BAF83133;BAH11463;BAH11842;BAH11859;BAH12027;BAH12852;BAH13059;BAH14195;CAH18107;EAW69161;EAW69162;EAW69163;EAW69164;NP_001188267;NP_001188268;NP_001188269;NP_002958;Q15424 Hs.728802 1643604;1649777;1683227;2122307;2129532;5016348 A008W44;RH25361;RH47536;RH93302;WI-16093;WIAF-2223 DKFZp779C1727;HAP;HET;SAF-B1;SAFB1 HSP27 ERE-TATA-binding protein;HSP27 estrogen response element-TATA box-binding protein;Hsp27 ERE-TATA binding protein;SAB-B1;SAF-B;glutathione S-transferase fusion protein;heat-shock protein (HSP27) estrogen response element and TATA box-binding protein;scaffold attachment factor B1 APPROVED protein-coding ENSG00000160633 10520 04205 602895 REVIEWED 1352077 SAGE1 sarcoma antigen 1 This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008] X X X q26 135335486 135355129 + 134803451 134822886 + 134975785 134995220 + 6480464 18029348;16061876;12477932;10919659 55511 F5H2Z8;Q9NXZ1 ABBA01055839;ABBA01055840;AC240441;AJ278111;AK310412;AL590618;AL953870;AMYH01023045;BC144260;BF056519;CD358947;CH471150;NG_012571;NM_018666 AAI44261;CAB92443;EAW88486;NP_061136;Q9NXZ1 Hs.195292 1701706 DXS7888 CT14;SAGE OTTHUMP00000024088;cancer/testis antigen 14;putative tumor antigen;sarcoma antigen 1 APPROVED protein-coding ENSG00000181433 30369 02290 300359 REVIEWED 5130641 SALL4P1 sal-like 4 (Drosophila) pseudogene 1 5 5 53673146 53674945 + 56718293 56720092 + 100419717 ABBA01015777;AC025470;AMYH01015099;NG_024673 pseudo 39818 INFERRED 5130646 SALL4P2 sal-like 4 (Drosophila) pseudogene 2 X X X q26.1 129391780 129398050 + 128832975 128839230 + 129005276 129011546 + 100130259 ABBA01047850;ABBA01047851;AL034405;AMYH01022964;NG_022702 1701998 DXS7910 pseudo 39819 INFERRED 5130644 SALL4P3 sal-like 4 (Drosophila) pseudogene 3 16 16 16 p12.3 19316170 19319214 + 20028986 20077565 + 20166904 20169948 + 100131046 ABBA01028277;AC021089;AC092132;AMYH01007327;NG_022510 1337939;1731383;1738821;1753541 D16S2881;D16S3099;D16S383;SHGC-107476 pseudo 39820 INFERRED 1604646 SAE1 SUMO1 activating enzyme subunit 1 Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010] 19 19 19 q13.32 44437959 44517752 + 52325984 52405372 + 47634080 47713893 + 6480464;6907045 10187858;9920803;16620772;16421094;16344560;15660128;15489334;15146197;14702039;12924945;12477932;11481243;11451954;11042152;10217437;17353931;16189514;11792325;15546615;21209321;21832049;22863883;22939629;16147992;22403398;12941704;18781797;19246003;19307308;21987572;22157079;21833088;19471022;21139048;21890473;21906983;12821332;18029348;22505724;22884621 10055 B3KNJ4;B4DY66;M0QX65;M0QYM8;M0QYP2;M0QZS6;M0R054;M0R286;M0R375;Q9UBE0 ABBA01041005;ABBA01041006;ABBA01041007;ABBA01041008;ABBA01041009;ABBA01041010;ABBA01041011;ABBA01041012;ABBA01041013;AC008532;AC008755;AF046025;AF090385;AF110956;AF161489;AI339364;AK021978;AK027595;AK055481;AK090645;AK302287;AK315624;AMYH01009876;BC000344;BC003611;BC018271;BC128518;BC128519;BT007290;CH471126;CN386158;DA047601;DA086973;DC297573;DC312737;NM_001145713;NM_001145714;NM_005500;NR_027280 AAD12785;AAD23902;AAD24433;AAF29104;AAH00344;AAH03611;AAH18271;AAP35954;ABM82677;ABM85858;BAG37992;BAG51064;BAG51356;BAG63628;EAW57460;EAW57461;EAW57462;EAW57463;EAW57464;NP_001139185;NP_001139186;NP_005491;Q9UBE0 Hs.515500 1644965;1678213;1699650 RH103429;RH94318;WI-22443 AOS1;FLJ3091;HSPC140;SUA1;UBLE1A SUMO-1 activating enzyme E1 N subunit;SUMO-1 activating enzyme subunit 1;SUMO-activating enzyme subunit 1;activator of SUMO1;sentrin/SUMO-activating protein AOS1;ubiquitin-like 1-activating enzyme E1A;ubiquitin-like protein SUMO-1 activating enzyme APPROVED protein-coding ENSG00000142230 30660 18010 613294 VALIDATED 5130640 SALL4P4 sal-like 4 (Drosophila) pseudogene 4 13 13 92681609 92682194 - 111834458 111835043 - 100419855 ABBA01026987;AL390754;AMYH01005381;NG_024884 pseudo 39821 INFERRED 5130654 SALL4P6 sal-like 4 (Drosophila) pseudogene 6 3 3 3 p22.1 42301596 42303283 + 42284601 42339191 + 42362497 42364184 + 391530 ABBA01024771;AC018358;AC092048;AMYH01013111;NG_022248 pseudo 39823 INFERRED 5130645 SALL4P5 sal-like 4 (Drosophila) pseudogene 5 3 3 3 p24.3 22967274 22969030 + 23006318 23008077 + 23031314 23033070 + 100130785 ABBA01025049;AC135253;AMYH01013025;NG_022241 pseudo 39822 INFERRED 6483006 SALL4P7 sal-like 4 (Drosophila) pseudogene 7 14 q23.1 60960581 60963591 - 390483 ABBA01018282;AL122057;AMYH01005766;NG_022841 pseudo 43900 INFERRED 1320515 SALL1 sal-like 1 (Drosophila) The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q12.1 49727387 49742684 - 51169886 51185183 - 1599551;1599553;1580863;6480464;7240710 16088922;11102974 9425907;19213029;19005989;18470945;18280297;18000979;17910067;17426652;16670092;16545361;16443351;16429401;16344560;16221172;15342556;15158448;12477932;12200128;12065233;11836251;11751684;11484202;10965108;10928856;10533063;9973281;8975705;20548946;20634891;11511981;12395297;16971658;18024993;18297069;19247946;19440552;19942929;20301618;21062744;21300955;22308078;21139048;21532573;19471022;23069192;22504420 6299 F5H733;H3BQ32;H3BSM9;Q9NSC2 ABBA01000861;AC009166;AF017655;AF074949;AK295103;AK307835;AMYH01007667;BC113881;BC113906;BC131548;BP229682;CH471092;DA318592;NG_007990;NM_001127892;NM_002968;X98833;Y18264;Y18265 AAB99908;AAF19263;AAI13882;AAI13907;AAI31549;AAI67772;BAG58138;CAB41399;CAB41400;EAW82777;NP_001121364;NP_002959;Q9NSC2 Hs.135787 1689690;2160249;2184924;2220008 AF021116;RH47686;SALL1__5538;SHGC-9504 HSAL1;Sal-1;TBS;ZNF794 OTTHUMP00000164231;sal-like protein 1;spalt-like transcription factor 1;zinc finger protein 794;zinc finger protein SALL1;zinc finger protein Spalt-1 APPROVED protein-coding ENSG00000103449 10524 03742 107480;602218 REVIEWED 1342747 SAFB2 scaffold attachment factor B2 19 19 19 p13.3 5524361 5560295 - 5538010 5573938 - 5587010 5622938 - 1580863;6480464 19077293;17081983;15489334;15345747;15302935;15057824;14702039;14587024;12660241;12477932;8590280;16169070;21145461;17803295;19674106;19901029;19137425;20562859;16195251;22939629;18781797;19471022;21139048;21693764;21890473;21906983;22178446;21098080;21628590;21810271;15576338;22566185 9667 B4DKG3;K7EQU4;K7ERX3;Q14151 ABBA01056003;AC004611;AK123246;AK296552;AK300501;AMYH01009363;AW136754;BC001216;BC014784;BC025279;CH471139;D50928;DB475007;NM_014649 AAC14666;AAH14784;AAH25279;BAA09487;BAG59175;BAG62215;EAW69165;NP_055464;Q14151 Hs.655392 1649777;1689993;1738977;1773780;2143798 D19S1086;D19S800;RH25361;RH42000;RH80655 KIAA0138 SAF-B2;scaffold attachment factor B2 protein-coding ENSG00000130254 21605 06424 608066 VALIDATED 6908156 SAMD11P1 sterile alpha motif domain containing 11 pseudogene 1 17 2516576 2517263 - 100421331 ABBA01054717;AC015799;AMYH01008017;NG_026140 pseudo 44473 INFERRED 1321014 SALL3 sal-like 3 (Drosophila) This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011] 18 18 18 q23 73515295 73533238 + 74841263 74859182 + 76740275 76758969 + 1580863;6480464 22690083;18668548;16545361;12477932;10610715;20634891;18029348;19139273;19247946;22589738;21532573;21890473 27164 A9JR48;I3L3L8;Q9BXA9 ABBA01013882;ABBA01013883;AC099689;AC214178;AF347021;AI569735;AJ007421;AMYH01009125;AMYH01009126;AW956238;BC148296;CH471117;NG_030353;NM_171999 AAI48297;AAK18311;CAB65124;EAW66608;NP_741996;Q9BXA9 Hs.700557 2132067;2135583 RH12091;WI-15059 ZNF796 C2H2 zinc finger protein SALL3;OTTHUMP00000163810;hSALL3;sal-like protein 3;spalt-like zinc finger protein;zinc finger protein 796;zinc finger protein SALL3 APPROVED protein-coding 10527 05467 605079 REVIEWED 1345005 SALL2 sal-like 2 (Drosophila) 14 14 14 q11.1-q12 1852573 1868687 - 21059071 21075177 - 21989231 22005337 - 1580863;6480464 19131967;16545361;16189514;15082782;14702039;14507652;12477932;12168954;9205841;9110172;8975705;8889548;8188290;18655026;20634891;19247946;21228219;21791360;21362508;21532573;21890473;23029531 6297 E7EW59;F5GY43;F5H1G6;F5H433;H0YFS7;Q8N656;Q9Y467 AB002358;ABBA01061256;ABBA01061257;AE000521;AE000658;AF465630;AK001276;AK289358;AK293574;AK294051;AK296414;AK299931;AMYH01005595;BC024245;BC090958;BC136528;BC136529;BI823697;BM698506;CH471078;NG_001332;NM_005407;X98834 AAH24245;AAH90958;AAI36529;AAI36530;AAL74188;BAA21638;BAF82047;BAG57044;BAG57400;BAG59077;BAG61764;EAW66377;EAW66378;NP_005398;Q9Y467 Hs.416358;Hs.743336 1761545;1769797;2108437 SALL2_8607;SHGC-145541;WI-14198 FLJ10414;FLJ55746;HSAL2;KIAA0360;Sal-2;ZNF795;p150(Sal2) OTTHUMP00000239557;sal-like protein 2;zinc finger protein 795;zinc finger protein SALL2;zinc finger protein Spalt-2 protein-coding ENSG00000165821 10526 03743 602219 VALIDATED 2300135 SAMD12-AS1 SAMD12 antisense RNA 1 8 q24.12 119633240 119738306 + 10737800;16344560 552860 ABBA01037806;ABBA01037807;ABBA01037808;ABBA01037809;AMYH01018986;AP003468;AP004217;BE069098;BF368547;DB096108;NR_038210 Hs.571527 C8orf26;NCRNA00252 APPROVED miscrna 30937 VALIDATED 1353453 SAMD11 sterile alpha motif domain containing 11 1 1 1 p36.33 1711838 1728177 - 850984 869824 + 861121 879961 + 737633;6480464 12477932 15146197;16710414;15489334;14702039 148398 A6PWC8;H7BY14;H7C3J6;Q5SV95;Q96NU1 ABBA01016004;AK054643;AL645608;AMYH01000104;BC024295;BC033213;BM055062;CH471183;CN293867;CN342795;JX093066;JX093067;JX093068;JX093069;JX093070;JX093071;JX093072;JX093073;JX093074;JX093075;JX093076;JX093077;JX093078;JX093079;JX093080;JX093081;JX093082;JX093083;JX093084;JX093085;JX093086;JX093087;JX093088;JX093089;JX093090;JX093091;JX093092;JX093093;JX093094;JX093095;JX093096;JX093097;JX093098;JX093099;JX093100;JX093101;JX093102;JX093103;JX093104;JX093105;JX093106;JX093107;JX093108;JX093109;JX093110;NM_152486 AAH24295;AAH33213;AFP36417;AFP36418;AFP36419;AFP36420;AFP36421;AFP36422;AFP36423;AFP36424;AFP36425;AFP36426;AFP36427;AFP36428;AFP36429;AFP36430;AFP36431;AFP36432;AFP36433;AFP36434;AFP36435;AFP36436;AFP36437;AFP36438;AFP36439;AFP36440;AFP36441;AFP36442;AFP36443;AFP36444;AFP36445;AFP36446;AFP36447;AFP36448;AFP36449;AFP36450;AFP36451;AFP36452;AFP36453;AFP36454;AFP36455;AFP36456;AFP36457;AFP36458;AFP36459;AFP36460;AFP36461;BAB70781;EAW56307;NP_689699;Q96NU1 Hs.335293 1762901;1781562;2129521;2176080 SHGC-145703;SHGC-146656;SHGC-74080;SHGC-74122 MGC45873 OTTHUMP00000038427;OTTHUMP00000178963;SAM domain-containing protein 11;sterile alpha motif domain containing 11 splice variant ASV1;sterile alpha motif domain containing 11 splice variant ASV10;sterile alpha motif domain containing 11 splice variant ASV11;sterile alpha motif domain containing 11 splice variant ASV12;sterile alpha motif domain containing 11 splice variant ASV13;sterile alpha motif domain containing 11 splice variant ASV14;sterile alpha motif domain containing 11 splice variant ASV15;sterile alpha motif domain containing 11 splice variant ASV16;sterile alpha motif domain containing 11 splice variant ASV17;sterile alpha motif domain containing 11 splice variant ASV18;sterile alpha motif domain containing 11 splice variant ASV19;sterile alpha motif domain containing 11 splice variant ASV2;sterile alpha motif domain containing 11 splice variant ASV20;sterile alpha motif domain containing 11 splice variant ASV21;sterile alpha motif domain containing 11 splice variant ASV22;sterile alpha motif domain containing 11 splice variant ASV23;sterile alpha motif domain containing 11 splice variant ASV24;sterile alpha motif domain containing 11 splice variant ASV25;sterile alpha motif domain containing 11 splice variant ASV26;sterile alpha motif domain containing 11 splice variant ASV27;sterile alpha motif domain containing 11 splice variant ASV28;sterile alpha motif domain containing 11 splice variant ASV29;sterile alpha motif domain containing 11 splice variant ASV3;sterile alpha motif domain containing 11 splice variant ASV30;sterile alpha motif domain containing 11 splice variant ASV31;sterile alpha motif domain containing 11 splice variant ASV32;sterile alpha motif domain containing 11 splice variant ASV33;sterile alpha motif domain containing 11 splice variant ASV34;sterile alpha motif domain containing 11 splice variant ASV35;sterile alpha motif domain containing 11 splice variant ASV36;sterile alpha motif domain containing 11 splice variant ASV37;sterile alpha motif domain containing 11 splice variant ASV38;sterile alpha motif domain containing 11 splice variant ASV39;sterile alpha motif domain containing 11 splice variant ASV4;sterile alpha motif domain containing 11 splice variant ASV40;sterile alpha motif domain containing 11 splice variant ASV41;sterile alpha motif domain containing 11 splice variant ASV42;sterile alpha motif domain containing 11 splice variant ASV43;sterile alpha motif domain containing 11 splice variant ASV44;sterile alpha motif domain containing 11 splice variant ASV45;sterile alpha motif domain containing 11 splice variant ASV5;sterile alpha motif domain containing 11 splice variant ASV6;sterile alpha motif domain containing 11 splice variant ASV7;sterile alpha motif domain containing 11 splice variant ASV8;sterile alpha motif domain containing 11 splice variant ASV9;sterile alpha motif domain-containing protein 11 protein-coding ENSG00000187634 28706 10081 VALIDATED 1343473 SAMD1 sterile alpha motif domain containing 1 19 19 19 p13.12 14093031 14122123 - 14060229 14062232 - 14199229 14201232 - 6480464 16159594;12477932;22939629;19322201;19531213 90378 E9PIW9;F8WDT5;Q6SPF0 ABBA01029689;ABBA01029690;ABBA01029691;ABBA01029692;AC022098;AMYH01009519;AMYH01009520;AY453840;BC007384;BC030129;BC065477;BC080588;CH471106;NM_138352 AAH07384;AAH30129;AAH65477;AAH80588;AAR24087;EAW84396;NP_612361;Q6SPF0 Hs.140309 1682215;1798016;1854453;2144790;2148900;2150666;2181589 D1S3205;PRKACA__2119;RH47780;RH65125;RH69574;SHGC-64129;STS-N57750 OTTHUMP00000233858;OTTHUMP00000240510;SAM domain containing 1;SAM domain-containing protein 1;atherin;sterile alpha motif domain-containing protein 1 protein-coding 17958 18011 PROVISIONAL 1351691 SAMD10 sterile alpha motif domain containing 10 20 20 20 q13.33 59292100 59297628 - 62075910 62081439 - 62605466 62610995 - 6480464 16341674;15489334;12477932;11780052 140700 Q5JWV3;Q9BYL1 ABBA01021435;AI866764;AL118506;AMYH01012096;BC041436;BC067362;BM839907;CH471077;NM_080621 AAH67362;EAW75180;EAW75181;NP_542188;Q9BYL1 Hs.27189 1680419 RH44234 C20orf136;dJ591C20;dJ591C20.7 D930033N23Rik;OTTHUMP00000031619;SAM domain-containing protein 10;sterile alpha motif domain-containing protein 10 protein-coding ENSG00000130590 16129 15292 VALIDATED 1351271 SALL4 sal-like 4 (Drosophila) The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq, Jul 2008] 20 20 q13.2 49833988 49852421 - 50400581 50419048 - 1580863;6480464;7240710 21526180;19295406;19151334;18519826;18487508;18414659;18299846;17623483;17557835;17546590;17256792;16763212;16545361;16411190;16402211;16344560;16086360;15489334;15386473;15342710;15329836;15286162;14702039;12843316;12477932;12395297;12393809;22555391;20505821;20634891;19060217;19247946;19390421;19440552;19476507;19478329;19574883;19581335;19619907;19781444;19820689;20182341;22516245;21468036;22934838;21057460;19099625;21274508;21405998;22128185;21258884;21725617;21417895;23432194;23201546;19471022;19322201;22448662;20301547;23112162;23287862;22743134;23012367;23122807;23758232 57167 Q6Y8G5;Q9UJQ4 ABBA01052810;AI638036;AK001666;AL034420;AMYH01011983;AY170621;AY170622;AY172738;BC111714;CH471077;DB066881;NG_008000;NM_020436 AAI11715;AAO16566;AAO16567;AAO44950;EAW75595;EAW75596;NP_065169;Q9UJQ4 Hs.517113 1643870;1651535 AL022348;RH46384 DRRS;HSAL4;MGC133050;ZNF797;dJ1112F19.1 OTTHUMP00000031296;OTTHUMP00000165811;sal-like protein 4;zinc finger protein 797;zinc finger protein SALL4 APPROVED protein-coding ENSG00000101115 15924 08458 147750;607323;607343 REVIEWED 1344782 SAMD12 sterile alpha motif domain containing 12 8 8 8 q24.12 115390217 115822474 - 119270875 119703365 - 119201694 119634184 - 6480464 17568003;16344560;12477932;10737800;8889548;20379614;23412934 401474 B8ZZB7;E9PLP5;F8VYB8;H0Y632;H0YDQ2;H0YEJ0;Q8N8I0 ABBA01037804;ABBA01037805;ABBA01037806;AC023590;AK096777;AK311704;AMYH01018985;AMYH01018986;AP003468;AP003476;AP003493;AP003494;AP003496;BC121818;BC124554;BF326714;CB241290;CH471060;DA335826;DA459013;DB228621;DB232393;EF212289;NM_001101676;NM_207506 AAI21819;AAI24555;BAC04861;EAW91974;NP_001095146;NP_997389;Q8N8I0 Hs.359393;Hs.701196 1340176;1341173;1696466;1696786;1699824;1715311;1731891;1762145;1798446;1798548;1798618;1800774;1801102;1801468;1801554;1801850;1802276;1802334;1802394;1802518;1802882;1802988;1803094;1804168;1804264;1806104;1806226;1806560;1806852;1808142;1808294;1809000;1809936;1810816;1810966;1811422;1811566;1811668;1811988;1812212;1812274;1812276;1812844;1813366;1813702;1813928;1814592;1814818;1814968;1815126;1815376;1815378;1815512;1816090;1816728;1816884;1816886;1817044;1817526;1817782;1818542;1820178;1820514;1820580;1820640;1820886;1820948;1821434;1822206;1822560;1822944;1823294;1823906;1824226;1824922;1826736;1826738;1827358;1827438;1827700;1827772;1827848;1827940;1828032;1829100;1830160;1830722;1830820;1831142;1831308;1832242;1832406;1832650;1832890;1833170;1833346;1833502;1834852;1835238;1835400;1835776;1837688;1837980;1838028;1839284;1839336;1839396;1839824;1839884;1840126;1840128;1840686;1841788;1842012;1842616;1842890;1843774;1843776;1844276;1845246;1854562;1858576;1883848;1883850;1883852;1883854;1883856;1883858;1883860;1883862;1883864;1883866;1883868;1883870;1883872;1883874;1883876;1883878;1883880;1883882;1883884;1883886;1883888;1883890;1883892;1883894;1883896;1883898;1883900;1883902;1883904;1883906;1883908;1883910;1883912;1883914;1883916;1883918;1883920;1883922;1883924;1883926;1883928;1883930;1883932;1883934;1883936;1883938;1883940;1883942;1883944;1883946;1883948;1883950;1883952;1883954;1883956;1883958;1883960;1883962;1883964;1883966;1883968;1883970;1883972;1883974;1883976;1883978;1883980;1883982;1883984;1883986;1883988;1883990;1883992;1883994;1883996;1883998;1884000;1884002;1884004;1884006;1884008;1884010;1884012;1884014;1884016;1884018;1884020;1884022;1884024;1884026;1884028;1884030;1884032;1884034;1884036;1884038;1884040;1884042;1884044;1884046;1884048;1884050;1884052;1884054;1884056;1884058;1884060;1884062;1884064;1884066;1884068;1884070;1884072;1884074;1884076;1884078;1884080;1884082;1884084;1884086;1884088;1884090;1884092;1884094;1884096;1884098;1884100;1884102;1884104;1884106;1884108;1884110;1884112;1884114;1884116;1884118;1884120;1884122;1884124;1884126;1884128;1884130;1884132;1884134;1884136;1884138;1884140;1884142;1884144;1884146;1884148;1884150;1884152;1884154;1884156;1884158;1884160;1884162;1884164;1884166;1884168;1884170;1884172;1884174;1884176;1884178;1884180;1884182;1884184;1884186;1884188;1884190;1884192;1884194;1884196;1884198;1884200;1884202;1884204;1884206;1884208;1884210;1884212;1884214;1884216;1884218;1884220;1884222;1884224;1884226;1884228;1884230;1884232;1884234;1884236;1884238;1884240;1884242;1884244;1884246;1884248;1884250;1884252;1884254;1884256;1884258;1884260;1884262;1884264;1884266;1884268;1884270;1884272;1884274;1884276;1884278;1884280;1884282;1884284;1884286;1884288;1884290;1884292;1884294;1884296;1884298;1884300;1884302;1884304;1884306;1884308;1884310;1884312;1884314;1884316;1884318;1884320;1884322;1884324;1884326;1884328;1884330;1884332;1884334;1884336;1884338;1884340;1884342;1884344;1884346;1884348;1884350;1884352;1884354;1884356;1884358;1884360;1884362;1884364;1884366;1884368;1884370;1884372;1884374;1884376;1884378;1884380;1884382;1884384;1884386;1884388;1884390;1884392;1884394;1884396;1884398;1884400;1884402;1884404;1884406;1884408;1884410;1884412;1884414;1884416;1884418;1884420;1884422;1884424;1884426;1884428;1884430;1884432;1884434;1884436;1884438;1884440;1884442;1884444;1884446;1884448;1884450;1884452;1884454;1884456;1884458;1884460;1884462;1884464;1884466;1884468;1884470;1884472;1884474;1884476;1884478;1884480;1884482;1884484;1884486;1884488;1884490;1884492;1884494;1884496;1884498;1884500;1884502;1884504;1884506;1884508;1884510;1884512;1884514;1884516;1884518;1884520;1884522;1884524;1884526;1884528;1884530;1884532;1884534;1884536;1884538;1884540;1884542;1884544;1884546;1884548;1884550;1884552;1884554;1884556;1884558;1884560;1884562;1884564;1884566;1884568;1884570;1884572;1884574;1884576;1884578;1884580;1884582;1884584;1884586;1884588;1884590;1884592;1884594;1884596;1884598;1884600;1884602;1884604;1884606;1884608;1884610;1884612;1884614;1884616;1884618;1884620;1884622;1884624;1884626;1884628;1884630;1884632;1884634;1884636;1884638;1884640;1884642;1884644;1884646;1884648;1884650;1884652;1884654;1884656;1884658;1884660;1884662;1884664;1884666;1884668;1884670;1884672;1884674;1884676;2002300;2002302;2002304;2002306;2002308;2002310;2002312;2002314;2002316;2002318;2002320;2002322;2002324;2002326;2002328;2002330;2002332;2002334;2002336;2002338;2002340;2141549;2155007;2182415;2211770;2211772;2211774;2211776;2211778;2211780;2211782;2211784;2211786;2211788;2211790;2211792;2211794;2211796;2211798;2211800;2211802;2211804;2211806;2211808;2211810;2211812;2211814;2211816;2211818;2211820;2211822;2211824;2211826;2211828;2211830;2211832;2211834;2211836;2211838;2211840;2211842;2211844;2211846;2211848;2211850;2211852;2211854;2211856;2211858;2211860;2211862;2211864;2211866;2211868;2211870;2211872;2211874;2211876;2211878;2211880;2211882;2211884;2211886;2211888;2211890;2211892;2211894;2211896;2211898;2211900;2211902;2211904;2211906;2211908;2211910;2211912;2211914;2211916;2211918;2211920;2211922;2211924;2211926;2211928;2211930;2211932;2211934;7185708 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153;SHGC-146042;SHGC-79788;SHGC-79819;WIAF-2121;stSG631066;stSG631068;stSG631069;stSG631070;stSG631071;stSG631072;stSG631073;stSG631074;stSG631075;stSG631076;stSG631077;stSG631078;stSG631079;stSG631080;stSG631081;stSG631082;stSG631083;stSG631084;stSG631085;stSG631086;stSG631087;stSG631088;stSG631089;stSG631090;stSG631091;stSG631092;stSG631093;stSG631095;stSG631096;stSG631097;stSG631098;stSG631099;stSG631100;stSG631101;stSG631102;stSG631105;stSG631106;stSG631107;stSG631108;stSG631109;stSG631110;stSG631111;stSG631112;stSG631113;stSG631114;stSG631115;stSG631116;stSG631117;stSG631119;stSG631122;stSG631123;stSG631124;stSG631125;stSG631126;stSG631127;stSG631128;stSG631129;stSG631130;stSG631131;stSG631132;stSG631133;stSG631135;stSG631136;stSG631137;stSG631138;stSG631139;stSG631140;stSG631141;stSG631142;stSG631143;stSG631144;stSG631145;stSG631147;stSG631148;stSG631149;stSG631150;stSG631152;stSG631153;stSG631156;stSG631157;stSG631158;stSG631159;stSG631160 FLJ39458;MGC148139;MGC148140 OTTHUMP00000066180;OTTHUMP00000203660;OTTHUMP00000203661;OTTHUMP00000203662;OTTHUMP00000228445;OTTHUMP00000228446;OTTHUMP00000228447;SAM domain-containing protein 12;sterile alpha motif domain-containing protein 12 protein-coding ENSG00000177570 31750 15293 VALIDATED 1606448 SAMD13 sterile alpha motif domain containing 13 1 1 1 p31.1 83008265 83060708 + 84536637 84589067 + 84764049 84816481 + 6480464 16710414;14702039;12477932;23251661 148418 H7BZX5;Q5VXD3 ABBA01045657;ABBA01045658;AK056937;AL359273;AMYH01000752;BC037973;BF000472;CH471097;DB459148;NM_001010971;NM_001134663;NM_001134664 BAG51830;EAW73240;EAW73241;EAW73242;EAW73243;NP_001010971;NP_001128135;NP_001128136;Q5VXD3 Hs.591445 1692386;1706608;1775160;2175841 AL009765;AL033841;D1S1710;SHGC-82703 RP11-376N17.1 OTTHUMP00000011475;OTTHUMP00000011476;OTTHUMP00000011477;OTTHUMP00000011478;OTTHUMP00000011479;OTTHUMP00000206814;SAM domain-containing protein 13;dnaj-like protein (LOC148418);sterile alpha motif domain-containing protein 13 protein-coding ENSG00000203943 24582 17302 VALIDATED 1606691 SAMD15 sterile alpha motif domain containing 15 14 14 14 q24.3 57882338 57896164 + 76913515 76927340 + 77843762 77857587 + 15489334;14702039;12508121;12477932 161394 G3V2Z3;Q9P1V8 ABBA01030651;ABBA01030652;ABBA01030653;AC007954;AK093282;AK292571;AMYH01005882;BC104834;BC104836;CH471061;NM_001010860 AAF62561;AAI04835;AAI04837;BAF85260;EAW81284;NP_001010860;Q9P1V8 Hs.421961 1701424 RH104344 C14orf174;FAM15A;FLJ35963;MGC132494;MGC132496 OTTHUMP00000235925;SAM domain-containing protein 15;SAM domain-containing protein C14orf174;family with sequence similarity 15, member A;sterile alpha motif domain-containing protein 15 APPROVED protein-coding 18631 16618 PROVISIONAL 1322660 SAMD3 sterile alpha motif domain containing 3 6 6 6 q23.1 131211871 131290516 - 130507153 130585792 - 130465447 130686570 - 6480464 18391951;16344560;16189514;14702039;12477932;20602751;20978832;23455924;23534349 154075 B4DY20;E9PPN0;E9PR28;E9PR45;E9PRU9;E9PS85;H0YEH9;J3KQK4;Q8N6K7 ABBA01025900;ABBA01025901;AI129628;AK091351;AK091882;AK302228;AK310075;AL121947;AL355581;AMYH01016671;AMYH01016672;BC029851;BC119757;BC119758;BC127653;BC127654;CH471051;DA584636;DB509479;NM_001017373;NM_001258275;NM_001277185 AAH29851;AAI19758;AAI19759;AAI41507;BAC03644;BAC03765;BAG63582;EAW48069;EAW48070;NP_001017373;NP_001245204;NP_001264114;Q8N6K7 Hs.440508 1713455 RH119586 FLJ34563;MGC35163 OTTHUMP00000017193;OTTHUMP00000017194;OTTHUMP00000017195;OTTHUMP00000233213;OTTHUMP00000233239;SAM domain-containing protein 3;sterile alpha motif domain-containing protein 3 protein-coding ENSG00000164483 21574 11530 VALIDATED 1353343 SAMD5 sterile alpha motif domain containing 5 6 6 6 q24.3 148570287 148631616 + 147871756 147932850 + 147829828 147891157 + 6480464 12477932;20041166;23251661 389432 H3BS43;Q5TGI4 ABBA01025712;AL034350;AL354880;AMYH01016729;BC020896;BX642659;CB988162;NM_001030060 NP_001025231;Q5TGI4 Hs.567973 1650524;1700816;2152132;5016851 D6S1438;RH104033;RH80031;STS-AA039713 dJ875H10.1 OTTHUMP00000017385;SAM domain containing 1;SAM domain-containing protein 5;sterile alpha motif domain-containing protein 5 protein-coding ENSG00000203727 21180 VALIDATED 1602057 SAMD14 sterile alpha motif domain containing 14 17 17 17 q21.33 44650150 44667284 - 45545034 45562166 - 48188673 48207246 - 6480464 15489334;14702039;12477932;9110174;8619474;15146197;8889548;18823374;21829388;22415137;8125298 201191 D6RA16;J3KN99;Q8IZD0 ABBA01041227;AC002401;AF035306;AK054843;AK094209;AK095809;AK225767;AK291482;AMYH01008470;AY148482;BC029872;BC047081;BC136485;BC141822;BC142728;BM973393;CH471109;CN369613;NM_001257359;NM_174920 AAH29872;AAH47081;AAI36486;AAI41823;AAI42729;AAN71008;BAF84171;BAG52844;BAG53135;EAW94640;EAW94641;NP_001244288;NP_777580;Q8IZD0 Hs.567769 1664004;1740071;1746723;1771270 AI839049;D17S1781;IB663;RH11762 FLJ30281;FLJ36890 OTTHUMP00000220961;OTTHUMP00000220962;OTTHUMP00000220963;SAM domain-containing protein 14;sterile alpha motif domain-containing protein 14 protein-coding ENSG00000167100 27312 14127 VALIDATED 1321222 SAMD4A sterile alpha motif domain containing 4A Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008] 14 14 14 q22.2 35084168 35309486 + 54104387 54325595 + 55034330 55260033 + 1580863;6480464 16344560;16221671;12477932;10470851;15324660;19913121;20628086;20379614;22201125;23251661 23034 G3V2R1;J3QSW1;Q8WW19;Q9UPU9 AB028976;ABBA01018196;ABBA01018197;ABBA01018198;AF429970;AK024652;AK025923;AK074716;AL117523;AL133444;AL138994;AL359792;AMYH01005743;AW129053;BC011489;BC021060;BC021726;BC057838;BC121173;BC121174;BI825501;BX648198;CH471061;DA393986;NM_001161576;NM_001161577;NM_015589 AAH21726;AAH57838;AAI21174;AAI21175;AAP97302;BAA83005;CAB55976;EAW80644;EAW80645;EAW80646;NP_001155048;NP_001155049;NP_056404;Q9UPU9 Hs.733324;Hs.98259 1338656;1339961;1646808;1657895;1662874;1675173;1684684;1690736;1718077;2131712;2161607;2163714;2174759;5022578;7187110 A002Q45;A004C05;D14S1331;D14S281;D14S991;D1S1423;G35853;RH122656;RH44632;RH48077;RH81035;RH99309;SGC33961;WI-11810 DKFZp434H0350;DKFZp686A1532;KIAA1053;SAMD4;SMG;SMGA;Smaug;Smaug1;hSmaug1 OTTHUMP00000244858;OTTHUMP00000244859;OTTHUMP00000244860;SAM domain-containing protein 4A;protein Smaug homolog 1;smaug 1;smaug homolog;sterile alpha motif domain containing 4;sterile alpha motif domain-containing protein 4A APPROVED protein-coding ENSG00000020577 23023 10209 610747 VALIDATED 1605980 SAMD4B sterile alpha motif domain containing 4B 19 19 19 q13.2 36634788 36677224 + 44524948 44567382 + 39833108 39875542 + 6480464 17353931;16964243;16221671;15489334;15324660;15302935;14702039;12477932;20510020;19913121;20628086;22939629;21139048;19322201;23251661 55095 M0QX45;M0QXV2;M0QY61;M0QZ22;M0QZW7;M0R0X3;Q5PRF9 ABBA01040729;AC005239;AC011445;AK001073;AK091041;AMYH01009794;BC039652;BC054518;BC065211;BC080641;CH471126;EF601121;NM_018028 AAH39652;AAH54518;AAH65211;AAH80641;ABQ85549;BAA91493;EAW56875;EAW56876;EAW56877;EAW56878;EAW56879;NP_060498;Q5PRF9 Hs.707137 1648083;1769713 G19397;STS-AA024814 FLJ10211;MGC99832;SMGB;hSmaug2 SAM domain-containing protein 4B;protein Smaug homolog 2;smaug 2;smaug homolog B;sterile alpha motif domain-containing protein 4B protein-coding ENSG00000179134 25492 10960 PROVISIONAL 1318984 SAMD7 sterile alpha motif domain containing 7 3 3 3 q26.2 168028781 168056256 + 171112176 171139645 + 169629482 169656951 + 15489334;12477932 344658 F8WDF1;Q7Z3H4 ABBA01058701;AC008040;AMYH01013642;BC117339;BC143909;BX537903;BX648534;BX648989;BX648991;CH471052;NM_182610 AAI17340;ADR83006;CAD97889;EAW78534;NP_872416;Q7Z3H4 Hs.439922 2219664 SAMD7__5543 DKFZp686E1583 OTTHUMP00000213354;OTTHUMP00000213355;SAM domain-containing protein 7;sterile alpha motif domain-containing protein 7 protein-coding ENSG00000187033 25394 18013 PROVISIONAL 6481147 SAMSN1-AS1 SAMSN1 antisense RNA 1 21 15954523 15970624 + 100874190 ABBA01057084;AF165138;AMYH01012140;BF184654;NR_046512 Hs.563053 APPROVED miscrna ENSG00000223662 39599 PREDICTED 1315069 SAMD8 sterile alpha motif domain containing 8 10 10 10 q22.2 70159648 70230138 + 76541471 76606455 + 76871393 76941881 + 1580863;6480464 14685263;15761153;14702039;12477932;16385451;19506037;21906983 142891 Q5JSC9;Q96LT4 ABBA01020263;ABBA01020264;ABBA01020265;AK057811;AL392111;AMYH01002837;BC080593;CH471083;NM_001174156;NM_144660 AAH80593;AAI40220;AAI46557;BAB71586;EAW54565;EAW54566;EAW54567;EAW54568;NP_001167627;NP_653261;Q96LT4 Hs.302669 1653271;1760197;5016478;5022578;5024761;5037552 D1S1423;D8S2279;GDB:434012;RH36905;SHGC-132478;SHGC-32818 FLJ25082;SMSr CPE synthase;OTTHUMP00000019872;OTTHUMP00000019873;OTTHUMP00000019874;SAM domain-containing protein 8;ceramide phosphoethanolamine synthase;sphingomyelin synthase related;sphingomyelin synthase-related protein 1;sterile alpha motif domain-containing protein 8 protein-coding ENSG00000156671 26320 18014 611575 VALIDATED 1353410 SAMD9L sterile alpha motif domain containing 9-like 7 7 7 q21.2 87463879 87482190 - 92597304 92615616 - 92759368 92777680 - 6480464 17407603;14702039;12690205;12477932 219285 Q2UZV8 AACC02000014;AB095926;ABBA01045794;AC000119;AF474973;AK026672;AK097204;AK304307;AK304779;AL832264;AL834232;AMYH01017691;AY195582;AY195583;AY195584;AY195585;AY195586;AY195587;AY195588;BC029108;BC038974;BC127117;BC127118;CH236949;CH471091;DQ068177;NM_152703;W19045 AAH29108;AAH38974;AAI27118;AAI27119;AAP57709;AAP57710;AAP57711;AAP57712;AAP57713;AAP57714;AAQ05771;AAY98793;BAC04975;BAC23102;BAG65160;BAG65533;CAD38910;EAL24144;EAW76824;EAW76825;NP_689916;Q8IVG5 Hs.489118 1653666;1695048;1695050;1700042;1735644 D7S2058E;G44754;G44755;GDB:1318442;RH103633 C7orf6;DRIF2;FLJ39885;KIAA2005;UEF1 OTTHUMP00000208674;OTTHUMP00000208675;OTTHUMP00000208676;OTTHUMP00000208677;OTTHUMP00000208678;OTTHUMP00000208679;OTTHUMP00000208680;SAM domain-containing protein 9-like;chromosome 7 open reading frame 6;sterile alpha motif domain-containing protein 9-like protein-coding ENSG00000177409 1349 10798 611170 VALIDATED 1318099 SAMHD1 SAM domain and HD domain 1 This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010] 20 20 pter-q12 34954059 35013590 - 35520227 35580246 - 1580863;6480464;7240710 12477932;19525956;11064105;18546154;17081983;14702039;12107410;11780052;11256614;11230166;21832049;22461318;22589553;21204240;16344560;20237496;23426366;20842748;20358604;20156774;21102625;21402907;22863883;22990118;23076149;22691373;22926205;22999946;21613998;21720370;21633013;21740548;21963094;22174685;22327569;21139048;21890473;21906983;21903422;23364794;23526823;23677995;21987572;22056990;22069334;22972397;23000965;23158101;22362772;20301648;21145461;22776683;22978176;23455922;23463506;23092122;23092512;23426363;23231760;22530776;23269793;21701517;21720361;22421880;22908011;22973040 25939 A6NDZ3;Q59H15;Q9Y3Z3 AB013847;AB208944;ABBA01006597;ABBA01006598;ABBA01006599;ABBA01006600;ABBA01006601;ABBA01006602;AF228421;AK027811;AK304187;AK304795;AK311150;AK315169;AL050267;AL079335;AL365505;AMYH01011887;AMYH01011888;BC036450;CA392465;CH471077;DA351335;NG_017059;NM_015474 AAF32407;AAH36450;ADZ15537;BAB18916;BAB55386;BAD92181;BAG65067;BAG65545;CAB43368;EAW76090;EAW76091;NP_056289;Q9Y3Z3 Hs.580681 1652559;1666705;1768654;1857030;2109797;2118876;5021266 1452;A005D07;RH45857;RH48138;RH66067;SAMHD1_9434;WI-11878 AGS5;CHBL2;DCIP;HDDC1;MOP-5;SBBI88 OTTHUMP00000030889;SAM domain and HD domain-containing protein 1;dNTPase;dendritic cell-derived IFNG-induced protein;deoxynucleoside triphosphate triphosphohydrolase SAMHD1;monocyte protein 5 APPROVED protein-coding 15925 08418 606754;612952;614415 REVIEWED 1352885 SAMD9 sterile alpha motif domain containing 9 This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010] 7 7 7 q21.2 87433326 87451836 - 92566767 92585258 - 92728826 92747336 - 6480464;7240710 18094730;17507861;17407603;16960814;15489334;14702039;12853948;12690205;12477932;9847074;8125298;19830690;21160498;21248034;18029348;21139048;21906983 54809 C9JKF1;Q5K651 AA628487;AACC02000014;AB095925;ABBA01045794;AC000119;AF445355;AF453311;AK000080;AK122951;AK125101;AK125131;AK225201;AMYH01017691;BC065769;BC132773;BC132775;BC150249;BG615970;BX647072;CH236949;CH471091;NG_023419;NM_001193307;NM_017654 AAH65769;AAI32774;AAI32776;AAI50250;AAQ04637;AAQ04689;AAQ96842;BAA90932;BAC23101;BAG54143;BAG54150;EAL24145;EAW76826;NP_001180236;NP_060124;Q5K651 Hs.65641 1663153;1684118 RH99073;SHGC-63607 C7orf5;DRIF1;FLJ20073;KIAA2004;NFTC;OEF1;OEF2 OTTHUMP00000208700;OTTHUMP00000208701;SAM domain-containing protein 9;expressed in aggressive fibromatosis;sterile alpha motif domain-containing protein 9 APPROVED protein-coding ENSG00000205413 1348 11531 610455;610456 REVIEWED 5132311 SAP25 Sin3A-associated protein, 25kDa 7 7 q22.1 94899650 94901069 - 100169851 100171270 - 15489334;14702039;12107411;16449650 100316904 Q8TEE9 AACC02000084;ABBA01013198;AC069281;AI554115;AMYH01017738;BQ635892;CH236956;NM_001168682 NP_001162153;Q8TEE9 Hs.633863 25 kDa Sin3-associated polypeptide;Sin3 corepressor complex subunit SAP25;histone deacetylase complex subunit SAP25;sin3-associated polypeptide, 25kDa;sin3A-binding protein 25 protein-coding ENSG00000205307 41908 PROVISIONAL 1348552 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008] 21 21 21 q11 1027395 1088492 - 14779420 14840535 - 15857549 15955723 - 1580863;6480464 15381729;18523997;15489334;12909339;12477932;11536050;10830953;21296879;20478393;19807924;20379614;11594764;16344560;19953087 64092 F8WAA1;Q9NSI8 AA747998;ABBA01057083;ABBA01057084;AF165138;AF218085;AF222927;AF519621;AI815031;AK125144;AL163206;AMYH01012140;BC029112;CH471079;DA819791;NM_001256370;NM_022136 AAG23355;AAH29112;AAK07746;AAM75349;ADZ15733;BAG54155;CAB90391;EAX10053;EAX10054;NP_001243299;NP_071419;Q9NSI8 Hs.473341;Hs.719474 1666049;1675369;1681546;1695620;1699058;1718687;1729930;2126134 D21S16;D21S236;G48500;RH103104;RH123034;RH45314;SHGC-7347;STS-H77697 HACS1;NASH1;SASH2;SH3D6B;SLy2 OTTHUMP00000083033;OTTHUMP00000083034;SAM and SH3 domain containing 2;SAM domain, SH3 domain and nuclear localisation signals, 1;SAM domain, SH3 domain and nuclear localization signals protein 1;SAM domain-containing protein SAMSN-1;SH3-SAM adaptor protein;Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2;hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1;hematopoietic adapter-containing SH3 and sterile alpha-motif (SAM) domains 1;hematopoietic adaptor containing SH3 and SAM domains 1;nuclear localization signals, SAM and SH3 domain containing 1 APPROVED protein-coding ENSG00000155307 10528 06413 607978 VALIDATED 1604035 SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae) This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011] 22 22 22 q13.31 28262860 28304013 + 42682634 42723745 + 44351261 44392412 + 6480464 12477932;15644312;18940312;17624330;17510655;16344560;16189514;15489334;15461802;14702039;22719876;10810093;10591208;8125298;18029348;20877624;19913121;20628086;20379614;22939629;21963094;23402259;23464991;23535911;17623298;20360068;22114354;22001757;21139048;21906983;22252321;22505724 25813 A8MZI2;Q9Y512 ABBA01014588;ABBA01014589;ABBA01014590;AF151809;AK001087;AK091282;AK093144;AK097015;AK124895;AK222657;AK297770;AK312773;AL035398;AMYH01012832;AY189688;BC007830;BC011681;BC015200;CH471138;CR456483;DB030637;NG_029057;NM_015380 AAD34046;AAH07830;AAH11681;AAH15200;AAO85221;ABM84050;ABM87400;BAA91498;BAD96377;BAG53408;BAG60116;CAG30369;CAK54464;CAK54763;EAW73326;NP_056195;Q9Y512 Hs.505824 1678047;5022649;5022651 D11S2875;D11S2921;RH76330 CGI-51;FLJ35825;FLJ42905;FLJ99036;OMP85;SAM50;TOB55;TRG-3;YNL026W OTTHUMP00000197826;sorting and assembly machinery 50kDa;sorting and assembly machinery component 50 homolog;transformation-related gene 3 protein;transformation-related protein 3 APPROVED protein-coding ENSG00000100347 24276 10826 612058 REVIEWED 1606502 SAP130 Sin3A-associated protein, 130kDa SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008] 2 2 2 q14.3 122009747 122095715 - 128415266 128501337 - 128698791 128784869 - 6480464 17375202;17403666;17620012;11564863;19088080;16381901;15815621;15489336;15489334;15231748;14702039;12724404;12477932;11256614;11230166;11076863;18173839;11406595;12660246;15561718;19505873;16387653;20379614;16449650;18212063;22939629;11438666;9885572;19471022;22318606;23044487 79595 C9J683;C9JTJ5;H7BXF5;Q9H0E3 ABBA01040185;ABBA01040186;ABBA01040187;AC012306;AC118060;AK022823;AK055979;AK092234;AK315185;AL136833;AMYH01011027;AMYH01011028;AY220791;BC017453;BC117255;BC143898;CH471103;DB509348;NM_001145928;NM_024545 AAH17453;AAI17256;AAI43899;AAO63591;AAX88975;AAY14878;BAB14261;BAB71063;BAG52501;CAB66767;CAL37428;CAL38106;EAW95350;EAW95351;EAW95352;EAW95353;EAW95354;EAW95355;NP_001139400;NP_078821;Q9H0E3 Hs.32995 1648364;1667930;1671718;1678175;2120990;2172206;2183307 A006S47;G33178;RH41944;RH44344;RH47241;SHGC-33543;WI-15148 FLJ12761 130 kDa Sin3-associated polypeptide;OTTHUMP00000162312;OTTHUMP00000162313;Sin3-associated polypeptide p130;histone deacetylase complex subunit SAP130;mSin3A-associated protein 130 APPROVED protein-coding ENSG00000136715 29813 18015 609697 VALIDATED 1345696 SAPCD2 suppressor APC domain containing 2 9 9 9 q34.3 110469998 110478498 - 139076585 139084849 - 139956579 139965028 - 737633;6480464 12477932 17525738;23576022;18029348;21998710;23228105;20360068 89958 Q86UD0;Q96GJ3 ABBA01022739;ABBA01022740;AL807752;AMYH01021888;BC009435;BC018901;BC024299;BC042162;BC048267;BX332104;CH471090;DQ150361;NM_178448 AAH09435;AAH48267;AAZ39408;EAW88338;EAW88339;NP_848543;Q86UD0 Hs.19322 1655458;2137954 STS-R54078;WI-20997 C9orf140;p42.3 2010317E24Rik;OTTHUMP00000022651;TS/MDEP;protein C9orf140;suppressor APC domain-containing protein 2;tumor specificity and mitosis phase-dependent expression protein APPROVED protein-coding ENSG00000186193 28055 12943 612057 VALIDATED 1321265 SAP18 Sin3A-associated protein, 18kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008] 13 13 q12.11 20612685 20620977 + 21714653 21723224 + 1580863;6480464;6484113;6907045 9150135;17353931;17002296;16537548;16344560;16169070;15635413;15489334;15057823;12665594;12477932;10357820;9651585;14611647;11960000;11872158;21319273;19503603;19615732;20966198;18029348;16159877;19454010;23084401;23383273;17620012;22939629;16051665;20639865;17361185;21628590;19471022;21139048;21693764;21890473;21906983;22318606;22388736;22505724;22952844 10284 H7BZW6;O00422 ABBA01068601;AF153608;AK311748;AL158032;AMYH01004955;AY550970;BC030836;BU618473;CH471075;CR457035;DB171768;NM_005870;U78303;U96915 AAC51322;AAD41090;AAF21220;AAH30836;AAT52216;ABZ92289;BAG34691;CAG33316;EAX08291;NP_005861;O00422 Hs.524899 1725821;1740791;1855561;2114164;2147345;2178203 D11S4361;D13S1163;G61998;HUM00D0E10;STS-H65596;WI-13846 2HOR0202;MGC27131;SAP18P 18 kDa Sin3-associated polypeptide;OTTHUMP00000018107;OTTHUMP00000211540;cell growth inhibiting protein 38;cell growth-inhibiting gene 38 protein;cell growth-inhibiting protein 38;histone deacetlyase complex subunit SAP18;histone deacetylase complex subunit SAP18;sin3-associated polypeptide p18;sin3-associated polypeptide, 18 kDa;sin3-associated polypeptide, p18 APPROVED protein-coding ENSG00000150459 10530 04256 602949 REVIEWED 1352062 SAR1AP1 SAR1 homolog A (S. cerevisiae) pseudogene 1 6 6 6 p22.1 30648303 30651128 - 29152068 29152924 - 29042193 29045018 - 646260 ABBA01038029;AL035402;AL662791;AL662852;AL929561;AMYH01016195;BX248413;CR388407;CR547123;CR933783;NG_009576 2191407 MARC_21359-21360:1023909782:1 SAR1P1;SARAP;SARAP1;dJ88J8.3;hsSARA-p APPROVED pseudo 13983 INFERRED 1354225 SAP30 Sin3A-associated protein, 30kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008] 4 4 q34.1 174528668 174535258 + 174292093 174298683 + 1580863;6480464;6484113 9651585;9874765;12670868;19015240;17897615;17672918;17081983;15489334;15451426;15302935;15235594;15005689;12788099;12477932;12124384;11784859;11118440;11102443;11013263;10444591;10441327;9804427;9790534;9702189;9150135;7889570;12724404;11390640;11101889;11000236;15496587;16387653;20478393;11283269;12453419;16449650;16479010;16820529;18193082;20211142;20388487;21148318;9885572;22318606;21676866 8819 O75446 ABBA01070373;ABBA01070374;AC097534;AF055993;AMYH01014716;AW236579;BC016757;CH471056;NM_003864 AAC33316;AAH16757;ABM83754;EAX04755;EAX04756;NP_003855;O75446 Hs.591715 1663824;1773053;2109799;2127013 A008X24;SAP30_8860;SHGC-59778;SHGC-59809 30 kDa Sin3-associated polypeptide;OTTHUMP00000219006;Sin3 corepressor complex subunit SAP30;Sin3-associated polypeptide, 30kDa;histone deacetylase complex subunit SAP30;sin3-associated polypeptide p30;sin3-associated polypeptide, 30 kDa APPROVED protein-coding ENSG00000164105 10532 04540 603378 REVIEWED 2303334 SAR1AP2 SAR1 homolog A (S. cerevisiae) pseudogene 2 10 10 q26.2 121735915 121736509 + 127961297 127961891 + 641312 ABBA01034179;AC026226;AMYH01003167;NG_009478;NG_029050 SAR1P2;SARA1P APPROVED pseudo 20770 INFERRED 2799526 SAR1AP4 SAR1 homolog A (S. cerevisiae) pseudogene 4 X X X q13.3 75387708 75388303 + 75021106 75021701 + 75104381 75104976 + 100132322 ABBA01059392;AL451105;AMYH01022619;NG_016180 5017479 SAR1A pseudo 37638 INFERRED 1602814 SAR1AP3 SAR1 homolog A (S. cerevisiae) pseudogene 3 4 4 4 q27 118648444 118651324 + 121482662 121489403 + 121263135 121266015 + 9847074 344988 ABBA01044719;AC073475;AMYH01014489;NG_009719 2151622 WI-16722 SAR1P3 APPROVED pseudo 32317 INFERRED 1606218 SAP30L SAP30-like 5 5 5 q33.2 149901175 149916278 + 153805776 153816067 + 153825517 153840613 + 6480464 19015240;18070604;16484223;15302935;14702039;14680513;12477932;10843801;20588308;16820529;21076409;21258344;23535033 79685 Q9HAJ7 ABBA01026238;AC008625;AC026688;AF085957;AF157115;AF157116;AI144341;AI199517;AI436556;AK021588;AK027248;AK093816;AL833219;AL833381;AMYH01015729;AW874393;AY341060;AY846876;BC009829;CH471062;NM_001131062;NM_001131063;NM_024632;NR_024084 AAH09829;AAQ16562;AAX54477;ADZ15848;BAB13848;EAW61637;NP_001124534;NP_001124535;NP_078908;Q9HAJ7 Hs.592566 1665801;1699886;1721065;1775380;1794566;1794568;2123460;2142240;2149978;5019815 A009X35;G32956;G59515;PMC319701P1;PMC319701P2;RH103551;STS-Z41280;WI-12608;WI-13614;WI-17163 DKFZp667L2214;FLJ11526;FLJ23595;FLJ36497;NS4ATP2 HCV non-structural protein 4A-transactivated protein 2;OTTHUMP00000160641;OTTHUMP00000224330;OTTHUMP00000224331;Sin3A associated protein p30-like;histone deacetylase complex subunit SAP30L;sin3 corepressor complex subunit SAP30L;sin3-associated protein p30-like protein-coding 25663 08563 610398 VALIDATED 1352760 SAPCD1 suppressor APC domain containing 1 6 6 6 p21.33 33329018 33330872 + 31838752 31840606 + 31730773 31732627 + 6480464 14656967;14574404;8812450;2477242;12477932;19851445;22087225 401251 B0V039;F6XBR9;Q5SSQ6 ABBA01038085;AF134726;AI765046;AL662834;AL662899;AMYH01016217;BA000025;BC137541;BC137542;BU162048;BX248133;CR759787;CR759915;CR925765;NM_001039651 AAD21821;AAI37542;AAI37543;BAB63305;NP_001034740;Q5SSQ6 Hs.371225 1693774;2110581 MSH5_7832;SHGC-58848 C6orf26;DKFZp434C1615;NG23 OTTHUMP00000029178;OTTHUMP00000174487;protein G7d;suppressor APC domain-containing protein 1 APPROVED protein-coding ENSG00000228727 13938 VALIDATED 7245928 SAP30L-AS1 SAP30L antisense RNA 1 (head to head) 12477932;14702039;16344560 386627 ABBA01026238;ABBA01026239;ABBA01026240;AC008625;AK095428;AMYH01015729;BC042059;DB100745;NR_037897 Hs.652021 1682105;1688783;5016799;5022578;5037552 D1S1423;D8S2279;RH79856;RH91542;RH94350 GALNT10-AS1 miscrna 26760 VALIDATED 1602722 SAP30BP SAP30 binding protein 17 17 17 q25.1 70253482 70294229 + 71174994 71215734 + 73663399 73704139 + 6480464 9651585;16189514;15496587;15489334;14702039;12477932;10931946;16169070;17643375;18255255;20532202;21221920;20811636;17893145;22939629;21822266;18029348;17332742;19471022;21139048;21693764;21890473;21900206;21906983 29115 F5H478;J3KRR6;J3KRU5;J3KS14;J3QKW0;J3QLH3;J3QLM2;J3QQJ0;J3QS04;Q9UHR5 ABBA01028773;ABBA01028774;ABBA01028775;AC087749;AF087869;AF119664;AF450482;AK002202;AK023157;AK095265;AK298060;AK310177;AL049465;AMYH01008635;AY082382;BC007592;BC011724;BC013409;BC030233;BC063793;BX647066;CH471099;NM_013260 AAF17221;AAH07592;AAH13409;AAH30233;AAH63793;AAL47177;AAL92491;AAM10497;ABZ92322;BAC04514;BAG51029;BAH12715;CAH56422;EAW89298;EAW89299;EAW89300;EAW89301;EAW89302;EAW89303;EAW89304;NP_037392;Q9UHR5 Hs.655088 1736925;1749283;1769353;1849473;2116874;2183903 Cda12b04;D17S1570;RH17466;RH18255;RH46479;SHGC-110960 DKFZp586L2022;HCNGP;HTRG;HTRP HSV-1 binding;SAP30-binding protein;transcriptional regulator protein HCNGP protein-coding ENSG00000161526 30785 17094 610218 VALIDATED 735740 SARDH sarcosine dehydrogenase This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008] 9 9 9 q33-q34 107075562 107151924 - 135518503 135594863 - 136528682 136605077 - 1580863;634034;6480464;6907045;7240710;7242560 9839943;20645850 19161160;16344560;14702039;12477932;10686491;10444331;8125298;2447942;2417560;20877624;22825317;22939629 1757 A8K596;B4DPI2;Q5SYU9;Q5SYV1;Q5SYV2;Q9UL10;Q9UL12 ABBA01021976;ABBA01021977;AF047004;AF047190;AF095735;AF095736;AF095737;AF129265;AF140745;AF162428;AJ223317;AK093794;AK223402;AK291211;AK298348;AK316494;AL365494;AL590710;AMYH01021809;AMYH01021810;BC033217;BC041574;BC136363;BC136364;BC144035;CH471090;DB184618;NG_008987;NM_001134707;NM_007101 AAD13136;AAD13137;AAD32214;AAD33412;AAD43585;AAD53398;AAD53399;AAD53400;AAH33217;AAI36364;AAI36365;AAI44036;BAD97122;BAF83900;BAG52766;BAG60594;BAH14865;CAA11257;EAW88101;EAW88102;EAW88103;EAW88104;NP_001128179;NP_009032;Q9UL12 Hs.198003 1663306;1738317;1738331;1740537;1778573;5037552 D8S2279;D9S122;D9S1346;D9S1353;SHGC-32511;WI-18415 BPR-2;DMGDHL1;FLJ36475;SAR;SARD;SDH BPR-2;OTTHUMP00000022503;OTTHUMP00000022506;dimethylglycine dehydrogenase-like 1;sarcosine dehydrogenase, mitochondrial APPROVED protein-coding ENSG00000123453 10536 06831 268900;604455 REVIEWED 1320776 SARM1 sterile alpha and TIR motif containing 1 17 17 17 q11 23560746 23589829 + 23723114 23752192 + 26698987 26728065 + 6480464 9628581;18089857;17804407;16964262;15893701;15123841;14702039;12477932;11386760;19913121;20628086;20306472;17258210;21048031;21903422;21139048;21890473;22145856;22797925 23098 J3KRZ6;J3KSG7;J3QRE0;Q6SZW1 AB011096;ABBA01015059;ABBA01015060;AC002094;AC015917;AJ290445;AK093615;AK302038;AK314609;AMYH01008277;AY444166;BC040429;BC122860;BG820141;CH471159;CQ859792;NM_015077 AAH40429;AAI22861;AAR17520;BAA25450;BAG52744;BAG63432;CAB90355;CAH25946;EAW51083;EAW51084;NP_055892;Q6SZW1 Hs.743510 1660570;1672648;1682197;1687287;1689139;2219666 RH11530;RH12566;RH39314;SARM1__5545;SHGC-30073;SHGC-57890 FLJ36296;KIAA0524;MyD88-5;SAMD2;SARM OTTHUMP00000163322;OTTHUMP00000245268;SAM domain-containing protein 2;sterile alpha and Armadillo repeat protein;sterile alpha and HEAT/Armadillo motif protein, ortholog of Drosophila;sterile alpha and TIR motif-containing protein 1;sterile alpha motif domain-containing protein 2;tir-1 homolog protein-coding ENSG00000004139 17074 607732 VALIDATED 1350460 SAR1A SAR1 homolog A (S. cerevisiae) 10 10 q22.1 71579966 71600275 - 71909960 71930285 - 1580863;6480464;6907045 18318767;17981133;17373700;16713569;16344560;15489334;12692552;12477932;11230166;10871277;15580264;20624903;20457124;20634891;16385451;18029348;19135528;19357197;17207965;22974979;21832049;22939629;18781797;19738201;21988832;22605651;23000965;23349634;21139048;21890473;21906983;19322201;23019651 56681 B4DQ19;H0Y5E8;Q5SQT8;Q5SQT9;Q9NR31 ABBA01019619;ABBA01019620;AF086166;AF087897;AF217959;AF261717;AF274026;AF318066;AK025857;AK298591;AK312469;AL136724;AL731540;AMYH01002811;AW128933;AY008268;BC003658;BG327663;CH471083;CQ859742;CR533492;DB216796;DR763562;EB388518;NM_001142648;NM_020150 AAF81741;AAG16638;AAH03658;AAL27183;AAM69363;AAP97196;AAQ13891;ACE86727;ACE87413;ADQ33170;BAG35376;BAG60781;CAB66658;CAG38523;CAH25921;EAW54378;EAW54379;EAW54380;EAW54381;NP_001136120;NP_064535;Q9NR31 Hs.499960 1854636;2150852;2151622;2191407;5016258;5017479;5124527 MARC_21359-21360:1023909782:1;RH80472;SAR1A;SHGC-31373;STS-T93317;STS-W79509;WI-16722 SAR1;SARA1;Sara;masra2 COPII-associated small GTPase;GTP-binding protein SAR1a;OTTHUMP00000019743;OTTHUMP00000019744;OTTHUMP00000019745;OTTHUMP00000019746;OTTHUMP00000019748;SAR1 gene homolog A;SAR1 gene homolog A (S. cerevisiae);SAR1a gene homolog 1;sar1a gene homolog 1 (s. cerevisiae) protein-coding ENSG00000079332 10534 07608 607691 VALIDATED 1313710 SAR1B SAR1 homolog B (S. cerevisiae) The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 q31.1 133970018 133996426 - 133936839 133968533 - 1580863;6480464;6907045;7240710 11252894;11031247;18786134;17945526;15943909;15489334;14702039;12692552;12477932;10665502;8125298;12450215;18029348;19846172;16341674;21836065;21139048;22974979 51128 D6R9R5;D6RAA2;D6RD69;D6RDB2;Q9H029;Q9Y6B6 ABBA01068753;ABBA01068754;ABBA01068755;AC106763;AF087850;AF092130;AK056821;AK223452;AL512710;AL710660;AMYH01015626;BC002847;BC093034;BM765118;CD048852;CH471062;CQ816569;NG_017002;NM_001033503;NM_016103 AAD40372;AAH02847;AAH93034;AAP97161;ACE86982;ACE87671;BAD97172;BAG51815;CAC21652;CAG32967;EAW62249;EAW62250;NP_001028675;NP_057187;Q9Y6B6 Hs.432984 1653504;1657831;1679073;1679351;1735462;1780648;1856049;2138348;2166702;5015861;5015879;5020414;5020881;5022450;5022578;5037552;7184655;7185938 A006N32;D10S16;D10S275;D1S1423;D4S133;D5S1585E;D8S2279;GDB:314949;L17688;L17709;RH47180;RH91372;RH92208;STS-W67309;WI-21567;bac51510T ANDD;CMRD;GTBPB;SARA2 2310075M17Rik;GTP-binding protein B;GTP-binding protein SAR1b;GTP-binding protein Sara;OTTHUMP00000159375;OTTHUMP00000159376;OTTHUMP00000223099;OTTHUMP00000223100;OTTHUMP00000223101;OTTHUMP00000223103;OTTHUMP00000223104;OTTHUMP00000223105;SAR1 gene homolog B (S. cerevisiae);SAR1a gene homolog 2;sar1a gene homolog 2 (s. cerevisiae) APPROVED protein-coding ENSG00000152700 10535 09647 246700;607690 REVIEWED 1603945 SARNP SAP domain containing ribonucleoprotein This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 12 12 12 q13.2 55798717 55863901 - 54437325 54497773 - 56146247 56211540 - 6480464 14667819;11356193;17196963;15635413;15489334;15338056;15284855;15048984;12477932;11922608;11790298;11181995;17986458;21319273;11042152;8125298;16189514;22863883;22939629;18029348;21900206;19471022;21139048;21693764;21890473;21906983;21628590 84324 F8VS12;F8VZQ9;P82979;Q567R9 ABBA01008387;ABBA01008388;ABBA01008389;ABBA01008390;AC023055;AC073487;AF161434;AF486281;AJ409089;AK222719;AK290508;AMYH01004497;BC007099;BC093051;BI520421;CH471054;NM_033082;NR_026722;NR_026723 AAF28994;AAH07099;AAH93051;AAM09686;ABZ92475;BAF83197;CAC37950;EAW96838;NP_149073;P82979 Hs.505676 1651650;1659800;1681795;1777922;2119868;5093448;5123468 A009P04;D12S1177E;G32723;RH44981;RH99137;STS-AA005408;STS-AA040347 CIP29;HCC1;HSPC316;MGC14726;THO1 OTTHUMP00000243796;OTTHUMP00000243802;OTTHUMP00000243805;SAP domain-containing ribonucleoprotein;cytokine induced protein 29 kDa;cytokine-induced protein of 29 kDa;hepatocellular carcinoma 1;nuclear protein Hcc-1;proliferation associated cytokine-inducible protein CIP29;proliferation-associated cytokine-inducible protein CIP29 APPROVED protein-coding ENSG00000205323 24432 16716 610049 REVIEWED 1319808 SARS2 seryl-tRNA synthetase 2, mitochondrial This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] 19 19 19 q13.2 36208338 36223965 - 44097746 44113376 - 39405904 39421536 - 1580863;6480464 10764807;17353931;18755224;15489334;15109557;14702039;12477932;11331419;11317363;16133542;21145461;19439209;19615732;20877624;22939629;20186120;21139048;21890473;22145905 54938 B4DJM9;E7EX87;M0QWZ7;M0QX29;M0R1C0;M0R259;M0R2H5;Q9NP81 AB029948;ABBA01040709;ABBA01040710;AC011455;AK000457;AK098522;AK293414;AK296152;AK296170;AMYH01009789;BC001020;BC042912;CA415983;CH471126;NG_031865;NM_001145901;NM_017827 AAH01020;AAH42912;BAA91176;BAA99557;BAG56921;BAG58891;BAG58908;EAW56844;EAW56845;EAW56846;EAW56847;EAW56848;NP_001139373;NP_060297;Q9NP81 Hs.709416 1661792;1688881;2109801;2116913;2145505;5094910 MRPS12;RH12266;RH39132;SARS2_9851;SHGC-33491;STS-T78012 FLJ20450;SARS;SARSM;SERS;SYS;SerRS;SerRSmt;mtSerRS mitochondrial seryl-tRNA synthetase;serine tRNA ligase 2, mitochondrial;serine--tRNA ligase;serine--tRNA ligase, mitochondrial;serine-tRNA ligase, mitochondrial;seryl-tRNA synthetase, mitochondrial;seryl-tRNA(Ser/Sec) synthetase;seryl-trna synthetase 2 APPROVED protein-coding ENSG00000104835 17697 15295 612804;613845 REVIEWED 1348583 SARS seryl-tRNA synthetase This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010] 1 1 p13.3 109558063 109582308 + 109756515 109780804 + 1580863;6480464 15342556;16341674;16344560;8889548;9431993;17353931;19423847;15489334;14702039;12477932;11945516;11577083;11317363;9637248;8125298;7540217;22939629;11331419;20571754;21319273;18029348;20562859;20877624;21045311;21255763;22863883;17314511;22353712;21139048;21890473;21906983;21044950;22190034;22505724 6301 P49591;Q0VGA5;Q5T5C7 ABBA01068376;AK093718;AK222677;AK312771;AL356389;AMYH01000929;BC000716;BC009390;BC111398;BM666450;BM798814;BP363347;CH471122;D49914;DA792457;NM_006513;NR_034072;X91257 AAH00716;AAH09390;AAI11399;ABM83070;ABM86265;BAA95602;BAD96397;BAG35636;CAA62635;EAW56365;EAW56366;EAW56367;EAW56368;EAW56369;EAW56370;EAW56371;NP_006504;P49591 Hs.531176 1656120;1661743;1664437;1687479;1692630;2110715;2126989;2137689;2176952 AL009498;AL034074;RH28522;RH36634;RH69912;SARS_8608;SHGC-35825;SHGC-75275;STS-W72396 FLJ36399;SERRS;SERS OTTHUMP00000013432;OTTHUMP00000013500;Seryl-tRNA Ser/Sec synthetase;serine tRNA ligase 1, cytoplasmic;serine--tRNA ligase;serine--tRNA ligase, cytoplasmic;serine-tRNA ligase;seryl-tRNA synthetase, cytoplasmic;seryl-tRNA(Ser/Sec) synthetase APPROVED protein-coding ENSG00000031698 10537 09605 607529 REVIEWED 1603551 SASS6 spindle assembly 6 homolog (C. elegans) SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) [PubMed 17681132].[supplied by OMIM, Mar 2008] 1 1 1 p21.2 98805981 98855389 - 100321688 100371099 - 100549100 100598511 - 6480464 15665853;14654843;22349698;19503075;17681132;16710414;15572125;12477932;20308539;16244668;17681131;19615732;21725316;21139048;20360068;22020124;23511974 163786 F5GXY5;Q6UVJ0 ABBA01045445;AC093019;AK025750;AK302513;AK307824;AL445928;AL834265;AMYH01000825;AY359522;BC054889;BC101026;BX641109;BX648406;CH471097;NM_194292 AAI01027;AAQ57128;BAG63789;CAD38940;EAW72974;EAW72975;NP_919268;Q6UVJ0 Hs.591447 1727287;1855404 G63050;SHGC-75217 FLJ22097;MGC119440;SAS-6;SAS6 OTTHUMP00000012455;hsSAS-6;spindle assembly abnormal protein 6 homolog APPROVED protein-coding ENSG00000156876 25403 10907 609321 VALIDATED 1317312 SAT2 spermidine/spermine N1-acetyltransferase family member 2 17 17 17 p13.1 7555972 7557610 - 7470281 7471889 - 7529556 7531194 - 737633;1580863;6480464;6483358;6907045 12477932;19364912 17119850;16596569;18949426;18676680;17875644;17558023;16189514;15761153;15489334;15342556;15283699;12803540;22675492;19170196;19625176;19692168;15604093 112483 I3L0W4;I3L2W7;Q96F10 ABBA01054875;AC007421;AF348524;AMYH01008085;BC011751;BC065922;BC095466;BP317593;CH471108;NG_011981;NM_133491 AAH11751;AAH95466;AAL83905;ADZ15794;EAW90151;EAW90152;EAW90153;NP_597998;Q96F10 Hs.10846 1690458;2139571;2183546 RH18329;RH66154;SHGC-166 SSAT2 OTTHUMP00000135292;diamine N-acetyltransferase 2;diamine acetyltransferase 2;polyamine N-acetyltransferase 2;spermidine/spermine N(1)-acetyltransferase 2;spermidine/spermine N1-acetyltransferase 2;thialysine N-epsilon-acetyltransferase protein-coding ENSG00000141504 23160 15296 611463 VALIDATED 1350407 SASH1 SAM and SH3 domain containing 1 6 6 6 q24.3 149404636 149614083 + 148705422 148914877 + 148663729 148873184 + 1580863;6480464 9872452;17474147;18978678;18464913;17088907;17081983;15790807;15489334;14702039;12771949;12477932;15778465;19913121;20628086;21150874;20084102;20379614;22488244;22915266;21820526;22745667;21906983;20061627;15231748;23108792;23408906;22505724 23328 O94885;Q5TGN6 AB018333;ABBA01025696;ABBA01025697;ABBA01025698;ABBA01025699;ABBA01025700;ABBA01025701;ABBA01025702;ABBA01025703;AJ420508;AJ507735;AK023607;AK024403;AK025495;AK074249;AK300403;AL033378;AL357567;AL513164;AL589940;AMYH01016731;AY351979;AY927559;BC028303;BC063279;BN000088;BX537611;CH471051;NM_015278 AAH28303;AAH63279;AAQ55463;BAA34510;BAB14909;BAG62133;CAD47811;CAD92036;CAD97798;EAW47815;EAW47816;NP_056093;O94885 Hs.193133 1335494;1335712;1679263;1691002;1708298;1752475;1761201;1774310;1853361;1853363;2154611;2158036;2185857;2219668;5022450;7184929;7186519 A006J24;AL021862;D10S275;D6S1118E;D6S1637;D6S2102;D6S2201;D6S311;G20871;RH64974;RH99139;SASH1__5546;SHGC-106319;SHGC-145214;SHGC-80099 KIAA0790;RP3-323M4.1;SH3D6A;dJ323M4;dJ323M4.1 2500002E12Rik;OTTHUMP00000017386;SAM and SH3 domain-containing protein 1;proline-glutamate repeat-containing protein protein-coding ENSG00000111961 19182 06408 607955 VALIDATED 1353862 SASH3 SAM and SH3 domain containing 3 The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 2009] X X X q26 129300396 129315681 + 128741641 128756858 + 128913892 128929177 + 6480464 18029348;15761153;15489334;12515807;12477932;11470164;9094723;21832049 54440 B4DKQ0;O75995 ABBA01047837;ABBA01047838;ABBA01047839;ABBA01047840;AK292023;AK296665;AK314869;AL023653;AL049683;AMYH01022964;BC051881;CH471107;CR975883;NG_013260;NM_018990 AAH51881;BAF84712;BAG37384;BAG59262;CAB41255;EAX11826;NP_061863;O75995 Hs.61469 2147169;2148527;2159165;5092602 G54536;RH47211;RH68000;SHGC-34209 753P9;CXorf9;HACS2;SH3D6C;SLY OTTHUMP00000023986;SAM and SH3 domain-containing protein 3;SH3 protein expressed in lymphocytes homolog APPROVED protein-coding ENSG00000122122 15975 02342 300441 REVIEWED 1323212 SART3 squamous cell carcinoma antigen recognized by T cells 3 The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008] 12 12 q24.1 107440121 107479295 - 108915991 108955165 - 1580863;6480464;7240710 11477570;17353931;19148489;18567812;17081983;16713569;16344560;15489334;15452143;15314151;15146197;15031286;14749385;12578909;12477932;12421765;12374753;12032085;11959860;11920522;11092984;10844547;10761712;10463607;8590280;8125298;21145461;21319273;21988832;22751105;23088399;23463506;23667531;17643375;19615732;22863883;22939629;20595234;20360068;15840095;22586326;21252943;21139048;21890473;21906983;22132941;18029348;22072767;23022198;17932509 9733 B7ZKM0;F8VV04;F8VVK9;F8VZM2;F8W667;H0YHU8;Q15020 AB020880;AB073647;ABBA01053133;AC008119;AC010206;AF387506;AI656011;AK225174;AK290209;AK299250;AK302332;AK304834;AMYH01004731;BC004547;BC015627;BC024279;BC032601;BC041638;BC093784;BC103706;BC111983;BC143253;BQ231651;CH471054;CN349201;D63879;DA391623;NG_012155;NM_014706 AAH32601;AAH41638;AAH93784;AAI03707;AAI11984;AAI43254;AAK69347;BAA09929;BAA78384;BAF82898;BAG61281;BAG63664;BAG65578;EAW97816;EAW97817;NP_055521;Q15020 Hs.584842 1337955;1339239;1340552;1663059;1668012;1684662;1712502;1744491;1782774;2173090;2217936;5492145 A007J29;D12F290S2;D12S1605;D12S1727;D12S78;G54201;RH25375;SART3;SART3_3515;SGC31638;SHGC-173295;WI-17609 DSAP1;KIAA0156;MGC138188;P100;RP11-13G14;TIP110;p110;p110(nrb) OTTHUMP00000241139;OTTHUMP00000241141;OTTHUMP00000241143;SART-3;hSART-3;squamous cell carcinoma antigen recognised by t cells 3;squamous cell carcinoma antigen recognized by T-cells 3;tat-interacting protein of 110 kDa APPROVED protein-coding ENSG00000075856 16860 11532 175900;611684 REVIEWED 736742 SART1 squamous cell carcinoma antigen recognized by T cells This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008] 11 11 q13.1 65485736 65504183 + 65729160 65747607 + 1580863;6480464;6907045 15302935;16158934;10209962;9856836;10929426;18838541;18374504;17081983;16344560;15620657;15489334;15175327;14702039;12477932;12189166;12032085;11991638;11410364;11350945;11156463;11092984;10853014;10551332;9449708;8889548;8125298;11971955;15561718;20797634;21145461;18029348;16687569;17643375;19615732;20056645;16055720;17000644;21614000;21252943;21832049;22939629;23022380;19596686;20360068;17332742;19471022;21139048;21693764;21890473;21906983;22586326;22027693;21628590;16723661;22944692 9092 E9PQI8;O43290 AB006198;ABBA01024094;AF109680;AF353625;AK223016;AK293200;AK297589;AK298184;AMYH01003727;AP006287;AU136920;AW082868;BC001058;BC018607;BM668558;BM693243;BT006637;BX648500;CH471076;NM_005146;Y14314 AAD20223;AAH01058;AAK49523;AAP35283;ABM82620;ABW03446;BAA24056;BAD96736;BAG56740;BAG59976;BAG60455;CAA74694;EAW74474;EAW74475;NP_005137;O43290 Hs.502883 1675764;2131268;2191527 MARC_26072-26073:1032454189:5;RH16397;RH92212 Ara1;HOMS1;MGC2038;SART1259;SNRNP110;Snu66 IgE autoantigen;OTTHUMP00000234172;SART-1;SART1(259) protein;SART1(800) protein;SNU66 homolog;U4/U6.U5 tri-snRNP-associated 110 kDa protein;U4/U6.U5 tri-snRNP-associated protein 1;hSART-1;hSnu66;small nuclear ribonucleoprotein 110kDa (U4/U6.U5);squamous cell carcinoma antigen recognised by T cells;squamous cell carcinoma antigen recognized by T cells 1;squamous cell carcinoma antigen recognized by T-cells 1 APPROVED protein-coding ENSG00000175467 10538 10440 605941 REVIEWED 1351939 SAX1 spastic ataxia 1 (dominant) 7240710 114610 1340672 D12S93 16474 1343887 SATL1 spermidine/spermine N1-acetyl transferase-like 1 X X X q21.1 84586693 84603357 - 84233956 84250102 - 84347292 84363974 - 737633;1580863 12477932 15772651;15489334 340562 E9PB72;Q86VE3 ABBA01051642;AMYH01022660;BC043215;BC126401;CH471104;NG_016590;NM_001012980;Z83820;Z99571 AAH43215;AAI26402;EAW98567;NP_001012998;Q86VE3 Hs.640783 1847583;1858566;2142960 A006S21;DXS6994E;DXS8341 OTTHUMP00000023622;spermidine/spermine N(1)-acetyltransferase-like protein 1 protein-coding ENSG00000184788 27992 18497 VALIDATED 1346323 SAT1 spermidine/spermine N1-acetyltransferase 1 The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009] X X p22.1 23711225 23714248 + 23801275 23804327 + 1580863;6480464;6483358;6907045;7242932;7240710;7244190 19364912;2292587;15541750 1985966;19060904;11256614;19162121;19051286;18759322;18660501;18430370;17875644;17516632;17065202;16854216;16769699;16757480;16637064;16544326;16389195;16262603;16207710;16189514;16169070;15905201;15489334;15479742;15213272;15159132;15146197;14506281;12803540;12600646;12539042;12477932;12427553;12215835;12083816;11779193;11485561;10646846;8954982;8670140;8573111;8033120;2241897;1989509;1652956;1417826;20628624;19152344;19446796;19686286;19727732;19851986;20212040;21152090;11866539;21501848;21139048;21890473;21906983;22179681;22354986;19149577 6303 A6NJE6;A6NM56;E9PD37;P21673;Q6ICU9 ABBA01072231;AC131011;AF251292;AK310078;AK312162;AK315888;AL050290;AMYH01022153;AY841998;BC002503;BC008424;BR000410;BT006825;CD638929;CH471074;CN271682;CR450294;M55580;M77693;NG_012929;NM_002970;NR_027783;U40369;Z14136 AAA60573;AAA63260;AAA98854;AAG44592;AAH02503;AAH08424;AAP35471;AAW03315;BAF98779;BAG35096;CAA78509;CAG29290;EAW98999;EAW99000;FAA00324;NP_002961;P21673 Hs.28491 1668143;1679700;1773099;2187227;2189403;5017887 MARC_4853-4854:991938661:1;RH17558;RH77846;RH81013;SAT1;SHGC-34052 DC21;KFSD;KFSDX;SAT;SSAT;SSAT-1 OTTHUMP00000023061;OTTHUMP00000023064;diamine N-acetyltransferase 1;diamine acetyltransferase 1;polyamine N-acetyltransferase 1;putrescine acetyltransferase;spermidine/spermine N(1)-acetyltransferase 1;spermidine/spermine N1-acetyltransferase alpha APPROVED protein-coding ENSG00000130066 10540 02431 308800;313020 REVIEWED 2303663 SATB2-AS1 SATB2 antisense RNA 1 2 2 2 q33.1 194088090 194092750 + 200042824 200046088 + 200332821 200337481 + 14702039;12477932 150538 Q96MQ0 ABBA01062505;AC017096;AK056625;AK123639;AK290476;AK291368;AK311461;AMYH01011393;BC035902;BC101782;BC113374;CH471063;NG_016976;NR_026830 BAB71234;BAF83165;BAF84057;EAW70182;EAW70183 Hs.721226 5015961;5022450;5024761;5037552;5493145 D10S275;D15S1477;D8S2279;RH36905;UniSTS:484417 MGC126831 APPROVED miscrna ENSG00000225953 26490 08118 VALIDATED 1313660 SATB1 SATB homeobox 1 This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 3 3 p23 18364438 18440344 - 18389133 18480265 - 1580863;6480464 1505028;15851481;19332023;19103759;19072498;18408014;18337816;17652321;17376900;17343824;17173041;16630892;16377216;16371359;16344560;16189514;15970696;15618465;15561718;15489334;14605447;12766061;12692553;12477932;12374985;12036295;11937547;11463840;10373541;9886398;9417904;9284917;8114718;7829101;17057718;19304547;19860849;20351170;20379614;20126258;20595686;20811679;21232178;15677454;15713622;21270445;21841785;20584685;21597389;21799257;21355308;21767935;20980149;22328728;22088470;22683624;21139048;22839214;21743493;21870058;21764697;22864778;22710879;22820583;23251624;22782115;22935204;23308245;23326301;22879953;22583549;22139419 6304 C9IZC5;C9J3I0;C9J7F3;C9JGL9;C9JLL5;C9JP21;H0YL45;H0YL78;H0YLV9;H0YN86;H0YNA6;Q01826 AA001621;AB209761;ABBA01025116;AC139618;AC144521;AK127242;AMYH01013008;AU127749;BC001744;BE218845;BI494258;CD677701;CH471055;DA938384;DB134320;DB141938;GN344109;HI589661;M97287;NG_027814;NM_001131010;NM_001195470;NM_002971;U92993 AAA60304;AAH01744;ABM82796;ABM85984;BAD92998;BAG54463;CAY55990;CBX55095;EAW64291;EAW64292;EAW64293;NP_001124482;NP_001182399;NP_002962;Q01826 Hs.517717 1655953;1662480;1687798;1709962;1765483;1788652;1851602;1854554;1855981;2109803;2112600;2114953;2123794;2139632;2182641;5118081 D3S4171;D3S4360;G09847;G64287;RH18154;RH68018;RH68415;RH91898;SATB1_8610;SGC34436;SHGC-148967;SHGC-76756;SHGC-76759;SHGC-8047;SHGC-82249;STS-M97287 DNA-binding protein SATB1;OTTHUMP00000160335;OTTHUMP00000207687;OTTHUMP00000207689;special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA's);special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA);special AT-rich sequence-binding protein 1 APPROVED protein-coding 10541 03647 602075 REVIEWED 2308875 SBF1P1 SET binding factor 1 pseudogene 1 8 8 8 q12.1 52352129 52358253 - 56524623 56530364 - 56361757 56367881 - 100133234 ABBA01041748;AF165144;AMYH01018731;AW297679;NR_027765 Hs.729852 1685632;2177312 RH47520;STS-T23637 pseudo ENSG00000248522 31098 PROVISIONAL 1343440 SATB2 SATB homeobox 2 This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010] 2 2 2 q33 193889754 194091258 - 199842469 200033446 - 200134223 200335989 - 1580863;6480464;7240710 22570222;16953426;16327884;15489334;14702039;14701874;12915443;12477932;10964520;10470851;20634891;18333962;18029348;20228799;19668335;19937600;20829881;21343628;21677534;21965674;21890473;19322201;22825848;22815795 23314 B3KPQ9;C9JR56;F8WCV6;Q3ZB87;Q59FT3;Q9UPW6 AB028957;AB209376;ABBA01062504;ABBA01062505;AC016746;AC017096;AJ438951;AK025127;AK056638;AK291463;AMYH01011393;BC098136;BC099723;BC103492;BC103500;CH471063;NG_016976;NM_001172509;NM_001172517;NM_015265 AAH98136;AAH99723;AAI03493;AAI03501;ABZ92224;BAA82986;BAB15073;BAD92613;BAF84152;BAG51771;EAW70180;EAW70181;NP_001165980;NP_001165988;NP_056080;Q9UPW6 Hs.516617 1681486;1687910;1704076;1717823;1734244;1854902;2148469;2178473;2219670;5024912 A006V05;D2S1498E;D2S2708;RH121822;RH80503;RH91707;SATB2__5548;SHGC-83346;Satb2;WI-17677 FLJ21474;FLJ32076;KIAA1034;MGC119474;MGC119477 DNA-binding protein SATB2;OTTHUMP00000163655;OTTHUMP00000205774;OTTHUMP00000205775;OTTHUMP00000208037;OTTHUMP00000208038;SATB family member 2;special AT-rich sequence-binding protein 2 APPROVED protein-coding ENSG00000119042 21637 12178 119540;608148 REVIEWED 1316338 SAV1 salvador homolog 1 (Drosophila) WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012] 14 14 14 q13-q23 30967387 31002030 - 50170110 50204773 - 51100298 51135071 - 1580863;6480464 16344560;16930133;19212654;15688006;15489334;14702039;12969014;12477932;12202036;11027580;8125298;15778465;21145461;20562859;16751776;21076410;19950692;17207965;21489991;21567072;21104395;22185343;17379520;19322201;19797269;21988832;23524264;22570112 60485 G3V453;H0YJ02;H0YJH0;H0YJT4;Q9H4B6;R4GNA7 ABBA01018142;AF088000;AJ292969;AK021500;AK023071;AK095903;AK225896;AK290883;AL606834;AL833378;AMYH01005723;BC006385;BC020537;CH471078;CR457297;DA479812;DA536352;DB543756;NM_021818 AAH20537;ADQ31795;BAB13835;BAB14390;BAF83572;BAG53163;CAC13972;CAG33578;EAW65702;EAW65703;EAW65704;NP_068590;Q9H4B6 Hs.642842;Hs.706933 1652733;1656847;1681298;1688560;1690556;1770770;1775032;1847002;2119706;2133698;2175602;2187621 A003P20;D14S1336;G20638;G36013;G36269;HSC2BE052;RH94145;RH98833;SGC35848;SHGC-67645;STS-AA036859;WI-16395 SAV;WW45;WWP4 1700040G09Rik;45 kDa WW domain protein;OTTHUMP00000178976;OTTHUMP00000244675;WW domain-containing;hWW45;protein salvador homolog 1 APPROVED protein-coding ENSG00000151748 17795 06229 607203 REVIEWED 1344532 SBK1 SH3-binding domain kinase 1 16 16 16 p11.2 27083689 27113061 + 28211341 28242671 + 28303840 28335170 + 6480464 19240061;17081983;11322885;19041431;21104019 388228 Q52WX2 ABBA01017176;AC138904;AL390134;AMYH01007409;AY874862;CH471145;NM_001024401 AAI72295;AAX59898;EAW55733;NP_001019572;Q52WX2 Hs.97837 1334856;1675493;2179276 D16S299;D16S3022;RH92920 Sbk OTTHUMP00000231814;SH3-binding kinase 1;serine/threonine-protein kinase SBK1 protein-coding ENSG00000188322 17699 18608 VALIDATED 1348153 SBDSP1 Shwachman-Bodian-Diamond syndrome pseudogene 1 7 7 7 q11.23 69777836 69800422 - 71938022 71942522 + 72299952 72307978 + 16344560;15146197;12496757;12477932;11329013;9847074;8889548 155370 ABBA01063982;ABBA01063983;AC005236;AC211469;AMYH01017531;BC010183;BG212607;BM974324;BQ441749;CB216674;CN267170;CX867149;DA143511;NR_001588;NR_024109;NR_024110;NR_024111 AAQ96837 Hs.585053 1647085;1665484;1683815;5491932 D7S2749;D8S1491;RH18371;Sbds SBDSP APPROVED pseudo ENSG00000225648 21646 VALIDATED 2302831 SBK2 SH3-binding domain kinase family, member 2 19 19 19 q13.42 53080945 53087914 - 60732912 60739473 - 56041100 56048435 - 17344846;15057824;12471243 646643 P0C263 ABBA01020868;ABBA01020869;AC008735;AMYH01010002;AX481603;NM_001101401 CAD44406;NP_001094871;P0C263 Hs.532676 SGK069 OTTHUMP00000208765;Putative uncharacterized serine/threonine-protein kinase SgK069;Sugen kinase 69;serine/threonine-protein kinase SBK2 protein-coding ENSG00000187550 34416 VALIDATED 1322030 SAYSD1 SAYSVFN motif domain containing 1 6 6 6 p21.2 40625262 40636287 - 39179818 39190843 - 39071840 39082865 - 6480464 18029348;15489334;14702039;14574404;12477932;11230166;17207965;19322201 55776 Q9NPB0 ABBA01038308;AF086405;AK001963;AL035690;AL136839;AMYH01016288;BC022007;CH471081;CR627244;CS072431;NM_018322 AAH22007;ACE86965;ACE87655;ADQ32782;BAA92004;CAB66773;CAI93569;EAX03976;EAX03977;NP_060792;Q9NPB0 Hs.58382 1680467;1745161;2136597;2148633;2149077;2149613;2156779;2176663;2181642 A004H40;GDB:595841;RH15833;RH36427;RH93841;SHGC-16715;SHGC-197;SHGC-31689;SHGC-57921 C6orf64;DKFZp434H012;FLJ11101 OTTHUMP00000016342;SAYSvFN domain-containing protein 1;hypothetical protein LOC55776;uncharacterized protein C6orf64 APPROVED protein-coding ENSG00000112167 21025 12892 PROVISIONAL 1322290 SBDS Shwachman-Bodian-Diamond syndrome This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008] 7 7 q11.21 66090125 66098023 - 66452690 66460588 - 1599541;6480464;6907045;7240710 12496757 18324336;17475909;17643419;15342903;17920346;18478597;14743349;15860664;19148133;19014892;19009351;18280855;18268284;18190602;18024409;17916435;17478638;17400792;17046571;16529906;15942154;15769891;15635413;15489334;15284109;14749921;14702039;12477932;12032733;10810093;19951977;17207965;20979173;19602484;19759903;19816210;20015955;20053358;20301722;22939629;21695142;23115272;22371183;22863883;21660439;21963601;21139048;21890473;21906983;21044950;23000965;23189942;22997148 51119 F8WE72;Q9Y3A5 ABBA01048957;ABBA01048958;AC079920;AF151855;AK001779;AK289609;AMYH01017493;AY169963;BC065700;CH471140;CQ787569;NG_007277;NM_016038 AAD34092;AAH65700;AAN77490;ADQ31940;BAA91905;BAF82298;CAG17753;EAX07906;NP_057122;Q9Y3A5 Hs.110445 1647085;1665484;1683815;5491932 D7S2749;D8S1491;RH18371;Sbds CGI-97;FLJ10917;SDS;SWDS OTTHUMP00000159953;ribosome maturation protein SBDS;shwachman-Bodian-Diamond syndrome protein APPROVED protein-coding ENSG00000126524 19440 07393 260400;607444 REVIEWED 6766587 SBF2-AS1 SBF2 antisense RNA 1 11 p15.4 9779840 9832866 + 12477932;14702039 283104 ABBA01061164;ABBA01061165;AC026250;AK098060;AMYH01003388;BC073899;NR_036485 Hs.632156;Hs.734067 2116952;2127945;2153775;2175095 A003N02;RH18237;RH69947;WI-19474 APPROVED miscrna ENSG00000246273 27438 VALIDATED 1342540 SC Scianna blood group 6306 10544 111620;111750 1346823 SC4MOP sterol-C4-methyl oxidase pseudogene X X X p21.1 41942799 41943680 + 37690081 37690962 + 37805137 37806018 + 6308 ABBA01047073;AL121578;AMYH01022211;NG_001194;U93261 DESP4P1 pseudo 10546 INFERRED 1316075 SBF1 SET binding factor 1 22 22 22 q13.33 34759447 34789477 - 49232101 49260320 - 50883429 50913464 - 1580863;6480464 9736772;19369647;15489334;14702039;12668758;12477932;11994405;11686296;10848615;10591208;9537414;8889548;17148452;19851296;20198315;19343720;21139048;21900206;22586326;23382691;22505724 6305 G5E933;H0Y5W8;O95248 AB209682;ABBA01042631;AF072929;AK057985;AL096767;AMYH01012910;AMYH01012911;BC009268;BC024101;BC040031;BC046169;BC056915;BC087612;BG766677;BI821356;BM975530;BU931657;BX341189;CA868136;CH471138;CR749672;NM_002972;U93181 AAC39675;AAC78842;AAH09268;AAH46169;AAH56915;AAH87612;ACE86433;ACE87108;BAD92919;CAH18463;EAW73536;EAW73537;EAW73538;EAW73539;EAW73540;NP_002963;O95248 Hs.589924 1682676;1685632;2108441;2146977;2160447;2177312 RH11296;RH46917;RH47520;RH47771;SBF1_8611;STS-T23637 CMT4B3;DENND7A;DKFZp761D0422;MGC99700;MTMR5 DENN/MADD domain containing 7A;OTTHUMP00000196597;OTTHUMP00000196599;SET-binding factor 1;myotubularin related 5;myotubularin-related protein 5 protein-coding 10542 06788 603560;615284 VALIDATED 1352262 SCA11 spinocerebellar ataxia 11 7240710 10417284 10977 10550 604432 1345814 SCA13 spinocerebellar ataxia 13 7240710 10820125 57363 10552 605259 1351203 SCA15 spinocerebellar ataxia 15 7240710 11723290 140449 13439 117360;606658 1353892 SCA16 spinocerebellar ataxia 16 7240710 57043 10554 117360;606658 1347005 SCA18 spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) 7240710 11992570 94008 15744 1349872 SCA19 spinocerebellar ataxia 19 7240710 12384780 140452 1338626 D1S534 17033 1354041 SCA20 spinocerebellar ataxia 20 7240710 14998916 407973 17204 1352970 SCA21 spinocerebellar ataxia 21 7240710 11160961 170545 1338347;1338518;7183790 D7S2464;D7S516 17172 1342705 SCA22 spinocerebellar ataxia 22 12764052 140575 17320 1347379 SCA23 spinocerebellar ataxia 23 7240710 259268 19051 610245 1354115 SCA25 spinocerebellar ataxia 25 7240710 14705117 338435 20684 1344127 SCA26 spinocerebellar ataxia 26 7240710 408221 31097 1349236 SCA4 spinocerebellar ataxia 4 6312 10557 1343643 SCA5 spinocerebellar ataxia 5 7240710 7874171 6313 10558 600224 1342581 SCA9 spinocerebellar ataxia 9 7240710 9159738 140451 13440 5687795 SCAANT1 SCA7/ATXN7 antisense RNA 1 p21 21689595 100861563 BU569004 1654372 A007I19 ATXN7-AS1 APPROVED miscrna 43718 614481 1602809 SBSN suprabasin 19 19 19 q13.13 32727776 32732706 - 40706109 40711093 - 36014269 36019253 - 6480464 10737800;17562024;15256262;15234001;12975309;12477932;12228223;21139048;23144906;22792300 374897 K7ESC4;Q6UWP8 AA055367;ABBA01018746;AC002389;AK291305;AMYH01009728;AY358701;BC063640;BF838582;BX648076;CU448844;NM_001166034;NM_001166035;NM_198538 AAH63640;AAQ89064;BAF83994;NP_001159506;NP_001159507;NP_940940;Q6UWP8 Hs.433484 MGC75533;UNQ698 HLAR698;OTTHUMP00000225014;OTTHUMP00000225015;suprabasin protein-coding ENSG00000189001 24950 18498 609969 VALIDATED 1316240 SBNO2 strawberry notch homolog 2 (Drosophila) 19 19 19 p13.3 1040607 1110334 - 1058633 1125282 - 1107633 1174282 - 6480464 18025162;19068216;15342556;12477932;10231032;21102463;19913121;20628086;20379614;19760754;23128233 22904 K7ENA9;K7ERL2;K7ES28;Q9Y2G9 AB023180;ABBA01002621;ABBA01002622;ABBA01002623;ABBA01002624;ABBA01002625;ABBA01002626;AC005390;AC093067;AC120982;AI433817;AK074102;AK125139;AK292407;AK296849;AK300981;AK309167;AMYH01009224;AMYH01009225;AMYH01009226;AMYH01009227;AMYH01009228;AMYH01009229;BC106021;BC127011;BG332816;BP315965;BQ950129;CH471139;DC400108;NM_001100122;NM_014963 AAC28919;AAI06022;AAI27012;BAA76807;BAB84928;BAF85096;BAG54153;BAG59415;BAG62603;EAW69541;EAW69542;NP_001093592;NP_055778;Q9Y2G9 Hs.408708 1712853;2119273;2153954;2173199;2191389 Bdyc2h09;G21495;MARC_21175-21176:1027090938:1;RH120143;STS-R96945 FLJ00173;KIAA0963;SNO;STNO protein strawberry notch homolog 2 protein-coding ENSG00000064932 29158 17203 VALIDATED 1354184 SBF2 SET binding factor 2 This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] 11 11 p15.4 9756905 10272312 - 9800214 10315754 - 6480464;7240710 15998640;19039035;16344560;15489334;15477569;15304601;14702039;12687498;12554688;12477932;11214970;10644431;9521281;18429927;18774718;17148452;17880751;19936222;20379614;16751776;21139048;23314748;20301641;23180869 81846 H0Y767;H0YD05;H0YDZ1;Q96FE2 AB051553;ABBA01061160;ABBA01061161;ABBA01061162;ABBA01061163;ABBA01061164;ABBA01061165;AC011092;AC015700;AC026250;AC080023;AC100763;AF085830;AI268862;AK022478;AK026571;AK091362;AK123621;AL512756;AL832942;AMYH01003388;AMYH01003389;AY234241;BC011143;BC027492;BC043389;BC053867;BC063656;BC101466;BX538184;BX647533;CR749312;CT000365;DA862574;NG_008074;NM_030962 AAH11143;AAH43389;AAH53867;AAH63656;AAI01467;AAO62733;BAB21857;BAG52341;BAG53924;CAC21675;CAD98056;CAH18167;CAH56315;NP_112224;Q86WG5 Hs.577252 1337036;1339126;1676676;1718159;1719703;1723943;1727145;2106459;2116952;2119503;2153775;2175095;5014039;5014051;5015619;5022651;5037552;7185150 A003N02;CMT4B2_4596;D11S1329;D11S1331;D11S2921;D11S3114;D11S4194;D22S1584;D8S2278;D8S2279;G62826;RH118704;RH122847;RH123540;RH18237;RH69947;RH80688;UniSTS:26777 CMT4B2;DENND7B;DKFZp779B2327;FLJ22918;FLJ41627;KIAA1766;MTMR13 DENN/MADD domain containing 7B;OTTHUMP00000231444;SET-binding factor 2;myotubularin related 13;myotubularin-related protein 13 APPROVED protein-coding ENSG00000133812 2135 09649 604563;607697 REVIEWED 1320657 SBNO1 strawberry notch homolog 1 (Drosophila) 12 12 12 q24.31 123365858 123427151 - 122346408 122400941 - 123773656 123834988 - 6480464 22449796;14702039;12477932;17308053;20379614;20881960;16751776;22863883;19471022;21139048;21890473;20686565;22504419 55206 A3KN83 AB014772;ABBA01060422;ABBA01060423;ABBA01060424;ABBA01060425;ABBA01060426;ABBA01060427;AC068768;AC137767;AF086046;AK001563;AK001695;AK024128;AK074256;AK092518;AK096864;AK122703;AK307488;AMYH01004837;AY364255;BC030544;BC041141;BC129949;BC133704;CH471054;NM_001167856;NM_018183 A3KN83;AAH30544;AAI33705;AAQ76814;BAA91758;BAA91842;BAB19784;BAG53383;EAW98402;EAW98403;EAW98404;EAW98405;NP_001161328;NP_060653 Hs.7012 1647384;1661254;1697816;1736252;1736254;1847210;2106777;2118759;2131213;2134586;2168773;5015619;5017633;5022200;5022578;5022651;5037552 A003B12;D11S2921;D11S3114;D12S1139E;D12S1208E;D12S1209E;D1S1423;D8S2279;GC22S16;L18426;RH102432;RH44771;SBNO1;STS-H24468;STS-N94741;UniSTS:2326;WI-22211 FLJ10701;FLJ10833;FLJ14066;FLJ16176;FLJ35199;MOP3;Sno monocyte protein 3;protein strawberry notch homolog 1;sno, strawberry notch homolog 1 (drosophila) protein-coding ENSG00000139697 22973 11533 614274 VALIDATED 1602645 SBSPON somatomedin B and thrombospondin, type 1 domain containing 8 8 8 q21.11 69973957 70002409 - 74141808 74168061 - 73976778 74005507 - 6480464 14702039;12107410;12477932;20551380;22412388;22969067 157869 Q8IVN8 ABBA01041960;ABBA01041961;AC022893;AC100823;AF087977;AI698180;AK292970;AL080094;AMYH01018790;AY040546;BC042877;CH471068;NM_153225 AAH42877;AAK83466;BAF85659;EAW86996;NP_694957;Q8IVN8 Hs.439040 1672518;1682734;1698076;1752551;1761959;1786740 RH102570;RH94170;SHGC-106470;SHGC-145894;SHGC-155272;SHGC-35192 C8orf84;FLJ40021;RPESP OTTHUMP00000211532;RPE spondin;RPE-spondin;somatomedin-B and thrombospondin type-1 domain-containing protein APPROVED protein-coding ENSG00000164764 30362 15271 VALIDATED 1351356 SC5D sterol-C5-desaturase This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008] 11 11 q23.3 120668598 120689329 + 121163388 121184119 + 1580863;1599537;2316911;2316868;2316857;6480464;7240710 12189593;7961720;12668600;16876788 8976377;18660489;15489334;14702039;12812989;12477932;11731337;10786622;10769175;10601301;10344195;8466936;8125298;7560069;7770068;20634891;20144677;20379614;17207965;21890473;21906983;21987572;21963094;23000965;23006423 6309 E9PPW5;E9PQ91;O75845;Q6GTM5 AB057650;ABBA01031307;AF069469;AF187981;AK027246;AK096847;AK222686;AK223141;AK312634;AMYH01004092;AP002959;BC012333;BC050427;BI559520;CH471065;NG_009446;NM_001024956;NM_006918;R60770 AAF00544;AAH12333;AAH50427;ADQ31867;BAB68218;BAD96406;BAD96861;BAG35518;EAW67519;EAW67520;EAW67521;EAW67522;NP_001020127;NP_008849;O75845 Hs.287749 1652553;1656098;1657439;1678953;1857222;2117092;2130665;5014051;5022200;5022651;5118444 A007C08;D11S2317E;D11S2921;D11S3316;D11S4289;D8S2278;L18426;RH18263;RH65852;RH79981;WI-19895 ERG3;S5DES;SC5DL 3beta-hydroxysteroid-delta5-desaturase;C-5 sterol desaturase;OTTHUMP00000231829;OTTHUMP00000231830;OTTHUMP00000231831;OTTHUMP00000231832;delta(7)-sterol 5-desaturase;fungal ERG3, delta-5-desaturase-like;lathosterol 5-desaturase;lathosterol dehydrogenase;lathosterol oxidase;sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like APPROVED protein-coding 10547 09078 602286 REVIEWED 733391 SCAF1 SR-related CTD-associated factor 1 19 19 19 q13.3-q13.4 47014713 47031238 + 54832203 54853711 + 50145382 50161906 + 6480464 16713569;16631123;15302935;14702039;12477932;11461075;19913121;20628086;20379614;21139048;21890473;21906983;21987572;22505724 58506 M0R232;M0R2L3;M0R3G4;Q9H7N4 ABBA01032913;ABBA01032914;AC011495;AF254411;AK024444;AMYH01009915;AMYH01009916;BC011662;BC018398;BC023628;BC053992;BQ896877;CH471177;NM_021228 AAF87552;AAH11662;AAH18398;AAH53992;BAB15734;EAW52508;EAW52509;NP_067051;Q9H7N4 Hs.103521 1698890 RH103013 FLJ00034;SRA1 SCAF;SR-related and CTD-associated factor 1;SR-related-CTD-associated factor;ctd-binding sr-like ra1;serine arginine-rich pre-mRNA splicing factor SR-A1;splicing factor, arginine/serine-rich 19 protein-coding ENSG00000126461 30403 11604 VALIDATED 1316447 SCAI suppressor of cancer cell invasion This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 9 9 9 q33.3 98352855 98553772 - 126754888 126945596 - 127704887 127905838 - 6480464 15164053;14702039;12477932;16344560;19350017;20379614;20562864;22939629;23178076 286205 H7C4U2;H7C5A3;Q3SXZ0;Q8N9R8 ABBA01043758;ABBA01043759;ABBA01043760;ABBA01043761;ABBA01043762;ABBA01043763;ABBA01043764;ABBA01043765;ABBA01043766;ABBA01043767;ABBA01043768;ABBA01043769;ABBA01043770;ABBA01043771;ABBA01043772;ABBA01043773;ABBA01043774;ABBA01043775;AF086497;AK021820;AK093983;AK098024;AL445930;AL451125;AMYH01021708;AMYH01021709;AMYH01021710;BC029431;BC037940;BC104030;BC104031;BC104032;BM873972;CH471090;DB048788;NG_016620;NM_001144877;NM_173690 AAI04031;AAI04032;AAI04033;BAC05217;EAW87608;EAW87609;NP_001138349;NP_775961;Q8N9R8 Hs.59504 1336865;1341436;1749681;1856364;2118208;2141575;2190883;5014023;5015619;5015959;5022578;5037552;5118718 D10S2448;D11S3114;D11S3590;D13S1553;D1S1423;D8S2279;D9S1789;D9S1825;G17284;MARC_10305-10306:998934185:1;RH79254;SGC34503;SHGC-111358 C9orf126;FLJ11758;FLJ36664;MGC120525;MGC120526;MGC120528;NET40 OTTHUMP00000022121;OTTHUMP00000215847;OTTHUMP00000215848;protein SCAI;suppressor of cancer cell invasion protein APPROVED protein-coding 26709 12941 REVIEWED 1342919 SCAF8 SR-related CTD-associated factor 8 6 6 6 q25.1-q25.3 155788784 155889386 + 155096204 155196886 + 155054512 155155194 + 1580863;6480464 18550522;17081983;15302935;14702039;14574404;12477932;10470851;8889548;11101529;22939629;18029348;19471022;21139048;21890473;21906983 22828 B7Z888;Q05BU5;Q8NDE9;Q9UPN6 AB029039;ABBA01025588;ABBA01025589;ABBA01025590;AK001530;AK023859;AK295651;AK302969;AK303001;AK307815;AL121952;AL136976;AL591499;AL833928;AMYH01016758;BC032728;BC070071;BM976977;CH471051;NM_014892 AAH32728;AAH70071;BAA83068;BAB14705;BAH12140;BAH13862;BAH13874;CAD38784;EAW47696;EAW47697;NP_055707;Q9UPN6 Hs.591329 1339613;1658856;1676071;1695732;2108897;2115086;2119238;7185261 AFM292yd5;D6S1130E;D6S1459;D6S448;RBM16__5653.2;RH46142;SHGC-82657 KIAA1116;RBM16 CDC5L complex-associated protein 7;OTTHUMP00000017469;RNA binding motif protein 16;RNA-binding motif protein 16;RNA-binding protein 16;SR-like CTD-associated factor 8;SR-related and CTD-associated factor 8;protein SCAF8;putative RNA-binding protein 16 APPROVED protein-coding ENSG00000213079 20959 11487 VALIDATED 1354010 SCAF11 SR-related CTD-associated factor 11 12 12 12 q12 45110253 45181745 - 44599181 44670668 - 46312914 46384401 - 1580863;6480464 9447963;9224939;17081983;16611372;15489334;15302935;14702039;12477932;10508479;10069390;8208298;21145461;19668339;20379614;22990118;18029348;22586326;19471022;21693764;21890473;21906983;16713569 9169 A8MTP4;A8MUK0;F8VXG7;F8W6K1;Q99590 ABBA01031452;ABBA01031453;AC000015;AC084878;AF030234;AF147405;AK026473;AK096682;AK302999;AK314093;AMYH01004426;BC017465;BC017851;BC033589;BC040951;CH471111;NM_004719;Y11251 AAC39565;AAH17851;AAH33589;AAH40951;AAI41553;BAG36788;BAG64134;CAA72121;EAW57892;EAW57893;EAW57894;NP_004710;Q99590 Hs.743951 1660167;1666853;1668696;1687824;1750121;1778176;2121553;2130386;2168723;2169631;2176251;2190567;5015619;5037552 D11S3114;D8S2279;EST4E5;RH44548;RH44967;RH65885;RH94197;SGC32980;SHGC-112246;SHGC-30766;SHGC-51985;STS-N22508;WI-18558;WI-19268 CASP11;SFRS2IP;SIP1;SRRP129;SRSF2IP CTD-associated SR protein 11;OTTHUMP00000195169;SC35-interacting protein 1;SFRS2-interacting protein;SR-related and CTD-associated factor 11;SRSF2-interacting protein;protein SCAF11;renal carcinoma antigen NY-REN-40;serine/arginine-rich splicing factor 2, interacting protein;serine/arginine-rich splicing factor 2-interacting protein;splicing factor, arginine/serine-rich 2, interacting protein;splicing factor, arginine/serine-rich 2-interacting protein;splicing regulatory protein 129 APPROVED protein-coding 10784 04720 603668 VALIDATED 1317892 SCAF4 SR-related CTD-associated factor 4 This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 21 21 21 q22.1 18226630 18287746 - 31965416 32026133 - 33043313 33104431 - 1580863;6480464 18550522;17914031;17081983;16344560;15489334;15302935;12477932;10830953;10574461;8692929;12692135;19913121;20628086;18029348;19423540;20406964;20438785;16055720;22990118;22939629;19322201;21139048;21890473;21906983;22505724 57466 O95104 AB032998;ABBA01057293;ABBA01057294;AF023142;AK025748;AK027017;AK057840;AK308406;AL117417;AL834304;AMYH01012198;AP000254;AP000255;BC014921;BC031898;BC043353;BC052286;BC064990;CH471079;DA016102;NM_001145444;NM_001145445;NM_020706 AAD09327;AAH14921;AAH43353;AAH52286;AAH64990;BAA86486;CAB55911;CAD38974;EAX09884;EAX09885;EAX09886;EAX09887;EAX09888;NP_001138916;NP_001138917;NP_065757;O95104 Hs.17255 1660439;1698318;1701544;1723095;1778069;1788656;1855157;2116627;2166442;2186916;2218602;5018905;5104900 D11Wox12;D11Wox13;D21S1847;RH102699;RH104405;RH121984;RH18156;RH66120;SFRS15__3662;SHGC-64327;SHGC-87579;SHGC-9340;WI-17989 DKFZp434E098;FLJ23364;KIAA1172;SFRS15;SRA4 CTD-binding SR-like protein rA4;OTTHUMP00000107307;OTTHUMP00000107308;SR-like CTD-associated factor 4;SR-related and CTD-associated factor 4;pre-mRNA splicing SR protein rA4;splicing factor serine alanine 15;splicing factor, arginine/serine-rich 15 APPROVED protein-coding ENSG00000156304 19304 11551 REVIEWED 1343509 SCAMP5 secretory carrier membrane protein 5 15 15 15 q24.2 52238808 52264809 + 73074954 73100889 + 75287876 75313836 + 737633;6480464 12477932 15840657;19234194;19240033;16381901;15489336;15489334;14702039;11230166;11076863;11050114;21490707;16344560;20071347;21163940 192683 H3BMY4;H3BNB3;H3BNH7;H3BNW6;H3BP89;H3BS22;H3BT30;H3BTD1;H3BU33;Q8TAC9 ABBA01060511;ABBA01060512;AC015720;AF495715;AK025678;AK056438;AK126940;AK127480;AK301505;AL360203;AL833230;AL834226;AMYH01006798;BC024700;CH471136;CR936761;CS320139;DA810757;NM_001178111;NM_001178112;NM_138967;NR_033660 AAH24700;AAM18052;BAG51709;BAG54404;BAG54511;BAH13498;CAD38904;CAH10607;CAK96044;CAL38295;EAW99277;EAW99278;EAW99279;EAW99280;EAW99281;EAW99282;EAW99283;EAW99284;NP_001171582;NP_001171583;NP_620417;Q8TAC9 Hs.374180 1768326;2134525 A001Y23;RH192 DKFZp686L1799;MGC24969 hSCAMP5;secretory carrier-associated membrane protein 5 protein-coding ENSG00000198794 30386 18020 613766 VALIDATED 1345872 SCAMP4 secretory carrier membrane protein 4 Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011] 19 19 19 p13.3 1839456 1860087 + 1856373 1877012 + 1905373 1926012 + 737633;1580863;6480464 12477932 16303743;15489334;14702039;11295240;11050114;20379614;20972266;21139048;21890473;21906983;19322201;22053931 113178 C9JWM2;K7EJJ4;Q969E2 ABBA01002692;AC012615;AF109187;AF173896;AK074586;AK074967;AK091166;AK092056;AK307641;AK307700;AL832731;AMYH01009269;BC007958;BC011747;BC016509;BC016685;BC062598;BX647235;CH471139;CQ782937;NM_079834 AAH11747;AAH16509;AAH62598;AAQ13496;AAQ13643;ABM82989;ABM82990;ABM82992;ABM86184;BAC03797;BAC11075;BAC11322;CAF86165;EAW69435;NP_524558;Q969E2 Hs.144980 1850752;5020946;5022200;5022450;5022576;5022651;5037552;5109281 D10S275;D11S2921;D1S1361;D1S1425;D8S2279;L17971;L18426;RH11579 FLJ33847;FLJ90105;SCAMP-4 OTTHUMP00000206198;OTTHUMP00000206199;OTTHUMP00000206200;OTTHUMP00000206201;secretory carrier-associated membrane protein 4 APPROVED protein-coding ENSG00000227500 30385 11536 613764 VALIDATED 6481447 SCAND3P1 SCAN domain containing 3 pseudogene 1 100873886 AL356430;NG_032394 pseudo 42037 INFERRED 731550 SCAMP1 secretory carrier membrane protein 1 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 73549557 73669746 + 77692095 77812318 + 77656339 77776562 + 1580863;6480464 9658162;15840657;9378760;16713569;16344560;15489334;14759258;14702039;12477932;12475951;12124380;11050114;11042173;11042152;10777571;9653160;9224770;9110174;8619474;8404846;8125298;19668339;20379614;19322201;21139048;21890473;21906983;21987572;22505724 9522 O15126;Q96AZ4 ABBA01061996;ABBA01061997;ABBA01061998;AC010585;AC104108;AF005037;AF038966;AF131858;AK001417;AK001541;AK225172;AK290225;AK298146;AK304452;AL049223;AMYH01015432;BC009787;BC015065;BC016355;BC034048;CB960371;CH471084;CR542286;DB213762;NM_004866 AAB62722;AAC39864;AAH15065;AAH16355;AAH34048;BAF82914;BAG60422;BAG65269;CAG47081;EAW95814;EAW95815;EAW95816;EAW95817;NP_004857;O15126 Hs.482587 1689203;1707096;1735500;1735578;1751725;1754353;1764499;1775804;1798116;1855910;1856647;1856649;2187038;5021872;5022200;5037552;5491808 A009A26;D5S1625E;D5S1690E;D5S1734;D5S1854;D8S2279;L18426;RH36123;RH91729;SCAMP1;SCAMP1_1839;SHGC-105737;SHGC-132376;SHGC-148104;SHGC-24296;SHGC-81307;sY3084 SCAMP;SCAMP37 OTTHUMP00000222103;secretory carrier-associated membrane protein 1 APPROVED protein-coding 10563 06072 606911 REVIEWED 68490 SCAMP2 secretory carrier membrane protein 2 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. [provided by RefSeq, Jul 2008] 15 15 15 q23-q25 52087212 52115664 - 72924250 72952723 - 75137197 75165670 - 1580863;6480464 15840657;9378760;19276089;17713930;16870614;16169070;15489334;14702039;12477932;12475951;12124380;9224770;21295544;21490707;18029348;20424473;21139048;22053931 10066 H3BMN2;H3BN93;H3BPL9;H3BQW2;H3BUB6;H3BV04;O15127 ABBA01060505;ABBA01060506;AC091230;AF005038;AK096376;AK096794;AK291884;AK315516;AMYH01006795;BC001376;BC004385;CH471136;CR456800;NM_005697 AAB62723;AAH01376;AAH04385;BAF84573;BAG37897;BAG53276;CAG33081;EAW99299;EAW99300;NP_005688;O15127 Hs.458917 1650254;1766571;2182014 SHGC-149885;STS-R33045;STS-W74766 OTTHUMP00000183476;secretory carrier-associated membrane protein 2 APPROVED protein-coding 10564 06073 606912 REVIEWED 1350296 SCAR1 spinocerebellar ataxia, recessive, non-Friedreich type 1 7240710 11022012 85506 23722 602433;606002 68495 SCAMP3 secretory carrier membrane protein 3 This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 1 1 1 q21 128299045 128305446 - 153492394 153498819 - 155225770 155232176 - 1580863;6480464 9378760;19158374;17081983;15592455;15489334;15144186;12477932;10777571;9658162;9331372;9224770;16105885;19438519;21102463;16341674;21832049;22939629;21252943;21951651;18781797;21903422;21987572;20972266;21139048;21890473;21906983;22053931;22190034;22505724 10067 O14828;Q6FHJ5 ABBA01016711;AF005039;AF023268;AL713999;AMYH01001427;BC000161;BC005135;BC010505;BM790077;BU193466;CH471121;CR541757;NM_005698;NM_052837 AAB62724;AAC51821;AAH00161;AAH05135;AAH10505;CAG46557;EAW53090;EAW53091;EAW53092;EAW53093;NP_005689;NP_443069;O14828 Hs.200600 1674284;1678651;1855394;2107939;2175184;2217938 A004W05;CLK2_8263;D1S3427;D7S2838;RH69036;SCAMP3_2726 C1orf3 OTTHUMP00000034066;OTTHUMP00000034067;propin 1;secretory carrier-associated membrane protein 3 APPROVED protein-coding ENSG00000116521 10565 06074 606913 REVIEWED 1318355 SCAND1 SCAN domain containing 1 This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] 20 20 20 q11.1-q11.23 31289831 31290713 - 34004960 34005842 - 34541539 34543281 - 1580863;6480464 18660489;16540086;16381901;16189514;15489336;15489334;12477932;12444922;12383503;11780052;11076863;10777584;10747874;10567577;11256614;20211142;21139048;21900206 51282 H0UIA5;P57086;Q9NZG6 ABBA01019133;AF204271;AF207829;AL109965;AMYH01011877;BC000785;BC036709;BC041022;BU190039;BU752664;BU848795;CH471077;CR457188;NM_016558;NM_033630 AAF59839;AAF66832;AAH00785;AAH36709;AAH41022;ABZ92024;CAG33469;CAL37761;CAL38007;EAW76150;EAW76151;EAW76152;NP_057642;NP_361012;P57086 Hs.584909 RAZ1;SDP1 OTTHUMP00000030813;OTTHUMP00000030814;SCAN domain-containing 1;SCAN domain-containing protein 1;SCAN-related protein RAZ1 APPROVED protein-coding 10566 15298 610416 REVIEWED 1350423 SCAND2P SCAN domain containing 2 pseudogene 15 15 15 q25.2 61600218 61611221 + 82975695 82985528 + 85174691 85185694 + 1580863;6480464 17081983;15489334;14702039;12477932;12036577;11056053;10567577;20531441;21832049 54581 Q9GZW5 AA280726;ABBA01052944;AC048382;AF229246;AF244812;AI218957;AK022844;AK290489;AL109690;AMYH01006869;AW341587;BC011547;BC012929;BC063836;BC093922;BC093924;BF115195;CH471101;NR_003654;NR_004859 AAG33966;AAG34567;BAB14268;BAF83178;EAX01938;EAX01939;EAX01940;EAX01941;EAX01942;EAX01943;Q9GZW5 Hs.658114 2109805;2162431;5019070;5022450 D10S275;G44334;SCAND2_9803;SGC30819 SCAND2 APPROVED pseudo ENSG00000176700 10567 18021 610417 VALIDATED 1345518 SCAPER S-phase cyclin A-associated protein in the ER 15 15 15 q24 53566747 54107576 - 74427592 74963247 - 76640526 77176217 - 1580863;6480464 18245951;17698606;17553665;14702039;12477932;12421765;10819331;15840729;19596686;21139048;15161980;22505724 49855 H3BPB0;H3BPM0;H3BQ61;H3BQF3;H3BR40;H3BS25;H3BT27;H3BTL8;H3BTY2;H3BU24;Q6NSF1;Q9BY12 AB040887;ABBA01060550;ABBA01060551;ABBA01060552;ABBA01060553;ABBA01060554;ABBA01060555;AC015798;AC016343;AC027243;AC051643;AC090179;AC090751;AF119814;AF242528;AK025663;AK056095;AK056515;AK125919;AK128091;AL137612;AMYH01006821;AMYH01006822;BC015212;BC070197;BC107415;BT006762;BX647285;CH471136;NM_001145923;NM_020843 AAG47945;AAH15212;AAH70197;AAI07416;AAI56878;AAK29205;AAP35408;BAA95978;CAB70841;EAW99217;EAW99218;EAW99219;NP_001139395;NP_065894;Q9BY12 Hs.458986 1334614;1659782;1680315;1684262;1709564;1714009;1750105;1752643;1762375;1771640;1773422;1783164;2115351;2138700;2156290;2165028;2165030;2181298;2185452;7187588 A004S31;A006F29;D15S114;D15S825;D15S833;G17864;G20765;G30961;RH119435;RH91340;RH93976;SHGC-106495;SHGC-111446;SHGC-112341;SHGC-146203;SHGC-37692;SHGC-81874;WI-21800;Z94581 FLJ31533;FLJ31953;FLJ46212;KIAA1454;MSTP063;ZNF291;Zfp291 S phase cyclin A-associated protein in the ER;S phase cyclin A-associated protein in the endoplasmic reticulum;zinc finger protein 291 protein-coding ENSG00000140386 13081 11704 611611 VALIDATED 1351610 SCAND3 SCAN domain containing 3 6 6 6 p22.1 30145800 30161506 - 28647386 28663091 - 28539407 28555112 - 6480464 18029348;16381901;15489336;15489334;14702039;14574404;12477932;11572484;11230166;11076863 114821 Q6R2W3 AB067512;ABBA01038022;ABBA01038023;AK056369;AL049543;AL713690;AL832486;AMYH01016190;AY517631;BC110834;BC111741;BC111742;BX647791;CH471081;NM_052923 AAI10835;AAI11742;AAI11743;AAS01734;BAB67818;BAB71166;CAD28490;CAL37757;CAL38739;EAX03170;NP_443155;Q6R2W3 Hs.176980 1677578 RH93273 Buster4;DKFZp434N092;FLJ31087;KIAA1925;MGC131782;MGC133310;MGC133311;ZBED9;ZFP38-L;ZNF305P2;ZNF452;dJ1186N24.3 OTTHUMP00000017861;SCAN domain-containing protein 3;dJ1186N24.3 (novel zinc finger protein);zinc finger protein 305 pseudogene 2;zinc finger protein 452 protein-coding ENSG00000232040 13851 11720 615254 PROVISIONAL 1604827 SCAP SREBF chaperone This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. [provided by RefSeq, Jul 2008] 3 3 p21.31 47430188 47492449 - 47455184 47517445 - 1581819;2317203;5490977;6480464 16741953;19933148;20973890 11726962;11969205;11726974;19116028;18660489;18195716;17570245;17383658;16466730;16344560;16303743;15489334;14702039;12842885;12482938;12477932;12242332;12202038;12168954;10896675;10570919;10570913;9642295;17963605;9242699;8898195;8724849;18835813;15782218;16549805;19706601;19740467;19878569;19948975;20031551;20186155;16751776;23440422;23564452;17043353;20111910;21963094;23454642;21139048;21906983 22937 C9JFY0;C9JQ35;D6RA39;F8W921;F8W9W7;F8WDP3;F8WEH8;Q12770 ABBA01024692;ABBA01024693;ABBA01024694;AC099778;AK027402;AK074312;AK075528;AK091005;AK291484;AK300311;AMYH01013142;AMYH01013143;AU152077;BC020987;BC027207;BI160250;CH471055;D83782;NM_012235 AAH20987;AAH27207;BAA12111;BAB55088;BAC11673;BAF84173;BAH13256;EAW64825;EAW64826;NP_036367;Q12770 Hs.531789 1664405;1684066;2108903;2148360;2153571 RH47493;RH91891;SCAP_9290;SHGC-76917;STS-D83782 KIAA0199 OTTHUMP00000155199;SREBP cleavage-activating protein;sterol regulatory element binding protein cleavage-activating protein;sterol regulatory element-binding protein cleavage-activating protein APPROVED protein-coding ENSG00000114650 30634 03300 601510 REVIEWED 1602765 SCARNA1 small Cajal body-specific RNA 1 1 1 1 p35.3 26556539 26556704 + 28033499 28033664 + 28160912 28161077 + 677774 ABBA01034995;AJ609484;AL020997;AMYH01000424;NR_002997 Hs.689694 ACA35 miscrna 32555 PROVISIONAL 1602538 SCARNA10 small Cajal body-specific RNA 10 12 12 p13.31 8236248 8236577 + 6619388 6619717 + 11157760 692148 ABBA01017642;AC006064;AF308283;AMYH01004203;NR_004387 2124947 D12S229 U85 miscrna 32567 PROVISIONAL 1602760 SCARNA11 small Cajal body-specific RNA 11 12 12 12 p13.31 8307501 8307637 - 6560900 6561036 - 6690639 6690775 - 677780 ABBA01017645;AC006064;AJ609487;AMYH01004204;NR_003012 Hs.689692 ACA57 miscrna 32568 PROVISIONAL 1602762 SCARNA12 small Cajal body-specific RNA 12 This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010] 12 12 12 p13.31 8697519 8697788 - 6946761 6947030 - 7076500 7076769 - 12032087;8723724;9074930 677777 ABBA01017670;AMYH01004212;AY077739;NG_021408;NR_003010;U47924 Hs.689636 2191659 MARC_4161-4162:996679469:1 U89 APPROVED miscrna 32569 VALIDATED 1602771 SCARNA13 small Cajal body-specific RNA 13 14 14 q32.12 76055380 76055654 - 95999692 95999966 - 12409454;16601202 677768 ABBA01048602;AF492209;AL133467;AMYH01005975;NG_021217;NG_033103;NR_003002 Hs.448753 1685726;1685728 RH93740;RH98225 U93 miscrna ENSG00000252481 32570 VALIDATED 1319520 SCARA3 scavenger receptor class A, member 3 This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 8 8 8 p21 26451665 26494373 + 27547496 27590205 + 27491577 27534286 + 6480464 9580669;16436673;15489334;12477932;9747040;17207965;18806823;20485444;21987572;22138034;21906983;21855113;22683311 51435 Q6AZY7 AB007829;AB007830;ABBA01005590;AC013643;AMYH01018598;AMYH01018599;BC060811;BC075067;BC075068;CH471080;DQ205185;NM_016240;NM_182826 AAH60811;AAH75067;AAH75068;ABA27098;ADQ32966;BAA86201;BAA86202;EAW63544;EAW63545;NP_057324;NP_878185;Q6AZY7 Hs.128856 1773565;1798118 D8S500;SCARA3_2473 APC7;CSR;CSR1;MSLR1;MSRL1 OTTHUMP00000225307;OTTHUMP00000225308;cellular stress response gene protein;cellular stress response protein;macrophage scavenger receptor-like 1;scavenger receptor class A member 3 APPROVED protein-coding ENSG00000168077 19000 04104 602728 REVIEWED 1602537 SCARNA14 small Cajal body-specific RNA 14 15 15 q22.31 43529355 43529491 - 66639544 66639680 - 14602913 692149 ABBA01038828;AC055855;AMYH01006721;AY349601;NR_004388 U100 miscrna 32571 PROVISIONAL 1602761 SCARNA15 small Cajal body-specific RNA 15 15 15 15 q25.2 61155809 61155935 - 81221751 81221877 + 83424697 83424823 + 19026782 677778 ABBA01029428;AC105339;AJ609485;AMYH01006856;NR_003011 Hs.743895 ACA45 miscrna ENSG00000252690 32572 612675 PROVISIONAL 1602770 SCARNA17 small Cajal body-specific RNA 17 18 18 18 q21.1 44197060 44197480 + 45594391 45594811 + 47340393 47340813 + 6480464 15556860;12032087 677769 ABBA01018665;AC090227;AMYH01008993;AY077741;BK005569;NR_003003 2131314 SHGC-57883 U91 miscrna 32574 PROVISIONAL 1602774 SCARNA18 small Cajal body-specific RNA 18 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 5 5 5 q14.2 78264627 78264760 - 82395779 82395912 - 82360023 82360156 - 16361266 677765 ABBA01062079;AC022416;AM055742;AMYH01015452;NR_003139 Hs.693283 U109 APPROVED miscrna 32559 611329 PROVISIONAL 1602759 SCARNA16 small Cajal body-specific RNA 16 17 17 17 q25.2 71680172 71680358 + 72596984 72597170 + 75085389 75085575 + 677781 ABBA01028720;AC015815;AJ609486;AMYH01008653;NR_003013 Hs.720923 ACA47 miscrna ENSG00000251790 32573 PROVISIONAL 1602937 SCARNA20 small Cajal body-specific RNA 20 17 17 17 q23.2 57409405 57409534 - 55663659 55663788 - 58308877 58309006 - 16373490 677681 ABBA01035415;AC104763;AMYH01008527;NR_002999 ACA66 miscrna 32578 PROVISIONAL 1602775 SCARNA21 small Cajal body-specific RNA 21 17 17 17 p13.1 7836993 7837130 + 7750166 7750303 + 7809441 7809578 + 16373490 677763 ABBA01054890;AC104581;AMYH01008086;NR_003000 ACA68 miscrna 32579 PROVISIONAL 1602769 SCARNA22 small Cajal body-specific RNA 22 4 4 4 p16.3 1888591 1888715 + 1946161 1946285 + 1976363 1976487 + 677770 ABBA01029524;AJ609470;AL132868;AMYH01013873;NG_009269;NR_003004 Hs.676951 ACA11 miscrna 32580 PROVISIONAL 1602766 SCARNA23 small Cajal body-specific RNA 23 X X X p22.11 28885430 28885559 + 24672479 24672608 + 24762558 24762687 + 12032087;15199136;20227365 677773 ABBA01072355;AC079375;AJ609482;AMYH01022166;NG_016798;NR_003007 Hs.689695 ACA12 miscrna 32581 VALIDATED 1642104 SCARNA27 small Cajal body-specific RNA 27 6 6 6 p24.3 9315934 9316059 - 8031640 8031765 - 8086641 8086766 - 16990247 100124533 ABBA01022053;AL451187;AMYH01016065;NR_003703 miscrna 33614 PROVISIONAL 1602938 SCARNA3 small Cajal body-specific RNA 3 1 1 1 q25.1 149048249 149048392 - 174204156 174204299 - 175937533 175937676 - 11387227 677679 ABBA01027866;AL590723;AMYH01001516;BK000438;NR_002998 HBI-100 miscrna 32577 PROVISIONAL 1602768 SCARNA4 small Cajal body-specific RNA 4 1 1 1 q22 128968658 128968786 - 154162373 154162501 - 155895749 155895877 - 12032087;12912925 677771 ABBA01016680;AJ609483;AL355388;AMYH01001433;NR_003005 Hs.678903 1715293 RH120477 ACA26 miscrna 32560 PROVISIONAL 1602764 SCARNA5 small Cajal body-specific RNA 5 2 2 2 q37.1 227905889 227906166 + 233849111 233849388 + 234184372 234184649 + 12032087;12119114;12912925;17435756;20570966;21102463;22412388;22936669 677775 ABBA01001947;AC013726;AMYH01011577;AY077737;NG_023038;NR_003008 Hs.663619 U87 miscrna 32561 VALIDATED 1602767 SCARNA6 small Cajal body-specific RNA 6 2 2 2 q37.1 227918838 227919103 + 233862061 233862326 + 234197322 234197587 + 12032087 677772 ABBA01001947;AC013726;AMYH01011577;AY077738;NG_023038;NR_003006 Hs.689637 U88 miscrna 32562 VALIDATED 1602772 SCARNA7 small Cajal body-specific RNA 7 3 3 3 q25.22 158654708 158655037 - 161715389 161715718 - 160232695 160233024 - 12032087 677767 ABBA01058796;AC078868;AMYH01013616;AY077740;NR_003001 Hs.675953 U90 miscrna 32563 PROVISIONAL 1602763 SCARNA8 small Cajal body-specific RNA 8 9 9 9 p22.1 18989849 18989979 - 19053654 19053784 - 19063654 19063784 - 12032087;16601202 677776 ABBA01065222;AL591206;AMYH01019269;AY077742;NR_003009 Hs.689635 U92 miscrna 32564 PROVISIONAL 1602604 SCARNA9 small Cajal body-specific RNA 9 11 11 11 q21 90746130 90746484 + 93094328 93094680 + 93454680 93455032 + 6480464 15556860;12032087 619383 ABBA01040043;AMYH01003959;AP003499;AV737883;BK005567;C19000;EH348052;NR_002569 Hs.660668 Z32;mgU2-19/30 miscrna 32566 VALIDATED 2293599 SCARNA9L small Cajal body-specific RNA 9-like X X X p22.12 24278718 24278867 - 20154184 20154531 - 20154184 20154531 - 6480464 16990247 100158262 AL732366;AMYH01022134;NR_023358 FLJ14503 APPROVED miscrna 33559 PROVISIONAL 1350717 SCASI spinocerebellar ataxia with saccadic intrusions 7240710 11960835 260415 19186 1351812 SCCD Schnyder crystalline corneal dystrophy 7240710 7801 14431 121800 1319619 SCARF1 scavenger receptor class F, member 1 The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 17 17 17 p13.3 1552503 1564397 - 1483902 1495791 - 1537152 1549041 - 1580863;6480464 9395444;15489334;12477932;12154095;11978792;8590280;15371419;21190681;10511292;11351612;15894273;17499247;17586471;17928461;18078691;18272814;19696406;20101615;20338659;20606164;20686127;22279061 8578 A8K6Z5;I3L4R9;Q14162 AB052946;AB052947;AB052948;AB052949;AB052950;ABBA01054669;AC130343;AK291810;AK298737;AK308904;AK310174;AK311370;AMYH01008000;AMYH01008001;AW263037;BC039735;CA434049;CH471108;D63483;D86864;DC429327;NM_003693;NM_145350;NM_145352;NR_028075;NR_028076;NR_102409 AAH39735;BAA09770;BAA24070;BAC02692;BAC02693;BAC02694;BAC02695;BAC02696;BAF84499;BAG60884;EAW90596;EAW90597;EAW90598;EAW90599;EAW90600;NP_003684;NP_663325;NP_663327;Q14162 Hs.647430 1685748;1847870;2182446;5022200;5022578;5022651 D11S2921;D17S1533;D1S1423;L18426;RH41938;STS-T96691 KIAA0149;MGC47738;SREC;SREC-I;SREC1 OTTHUMP00000115659;acetyl LDL receptor;endothelial cells scavenger receptor;scavenger receptor class F member 1;scavenger receptor expressed by endothelial cells;scavenger receptor expressed by endothelial cells 1 APPROVED protein-coding ENSG00000074660 16820 06386 607873 REVIEWED 1606661 SCARA5 scavenger receptor class A, member 5 (putative) 8 8 8 p21.1 26687547 26810041 - 27783655 27906117 - 27727399 27850369 - 6480464 16407294;16245330;15489334;14702039;12975309;12477932;21145461;20379614;16344560;21029358;21858178;22138034 286133 Q6ZMJ2 AA934589;ABBA01005593;ABBA01005594;ABBA01005595;AC069113;AC104997;AK172746;AK301006;AMYH01018602;AMYH01018603;AY337579;AY358150;BC033153;BQ944057;CH471080;DA991818;DA993754;NM_173833 AAH33153;AAQ17470;AAQ88517;BAD18733;BAG62624;EAW63532;EAW63533;EAW63534;NP_776194;Q6ZMJ2 Hs.591833 1676434;1748683;1750511;1757603;1762359;1763097;1766103;1786548;1789176 G65586;RH98499;SHGC-110343;SHGC-111451;SHGC-111819;SHGC-145089;SHGC-146192;SHGC-146833;SHGC-149486 FLJ23907;MGC45780;NET33;Tesr OTTHUMP00000163034;OTTHUMP00000225408;OTTHUMP00000225409;scavenger receptor class A member 5;scavenger receptor hlg;testis expressed scavenger receptor protein-coding ENSG00000168079 28701 11356 611306 VALIDATED 732465 SCARB2 scavenger receptor class B, member 2 The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] 4 4 q21.1 77298918 77354059 - 77079890 77135052 - 1580863;6480464;7240710 18022370;1374238;18996102;18308289;17673517;17215280;17110915;16542748;16368683;15489334;14702039;14570588;12754519;12628346;12620969;12477932;12370188;12356916;12107410;11840567;9478926;7539776;7509809;21738487;22223122;15469932;19913121;20602615;20628086;19543282;19847901;19933215;20032583;20237496;21389126;21674799;22939629;22884962;22219187;22050460;22272359;21139048;22032306;21985131;22465138;22438546;21796727;21782476;23302872;22537104 950 D6RDG0;Q14108 ABBA01063357;AC034139;AC110795;AK022432;AK056001;AK296519;AK313016;AMYH01014311;BC021892;BC035111;BQ924546;BT006939;BX538257;CA395147;CH471057;D12676;NG_012054;NM_001204255;NM_005506 AAH21892;AAP35585;AAP36329;ABM84461;ABM84683;BAA02177;BAG35851;BAG59150;EAX05779;EAX05780;EAX05781;NP_001191184;NP_005497;Q14108 Hs.349656 1337487;1646902;1649173;1654652;1662508;1663989;1711134;1735364;1757055;1772437;1798122;2141814;2171242;5022578;5024039;5037552 A007G26;D16S325;D1S1423;D4S2490E;D4S2820;D4S2990;D4S3271;D8S2279;HSC0FA022;SCARB2_2188;SHGC-144424;SHGC-50251;SHGC-50473;SHGC-59239;SHGC-86226;STS-D12676 AMRF;CD36L2;EPM4;HLGP85;LGP85;LIMP-2;LIMPII;SR-BII 85 kDa lysosomal membrane sialoglycoprotein;85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2;CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II);CD36 antigen-like 2;LGP85;LIMP II;OTTHUMP00000160590;OTTHUMP00000219176;cd36 antigen (collagen type i receptor, thrombospondin receptor)-like 2;lysosome membrane protein 2;lysosome membrane protein II APPROVED protein-coding ENSG00000138760 1665 03772 254900;602257 REVIEWED 1344605 SCDP1 stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 1 17 17 17 p11.2 21849004 21854368 - 20628156 20631897 + 20687563 20692927 + 10229681;10229681 645313 ABBA01050452;AC126365;AMYH01008263;NG_016706 1682259;2153070 RH11040;STS-S70284 SCDP APPROVED pseudo 10572 INFERRED 735633 SCARB1 scavenger receptor class B, member 1 The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 12 12 q24.31 123828127 123914472 - 125262174 125348519 - 1580028;1580003;1600654;1580004;6480464;6484679;6907045;7240710 14592533;14657200;16258026;15967843;21718801 22025344;10764676;12651854;9211901;19087225;14718538;17574123;11792700;19276229;19179658;19169357;19158204;19148942;19136670;19094442;18981156;18829747;18779054;18779053;18757346;18676680;18660489;18641187;18640393;18542840;18477479;18424859;18403724;18373109;18285332;18216094;18057374;18053692;18007013;17957039;17905649;17700364;17673517;17618962;17531953;17507483;17476110;17404186;17311943;17259591;17241464;17240192;17215280;17110915;17105723;16926440;16870193;16816107;16794223;16777453;16770077;16675450;16600224;16574909;16542392;16488891;16476701;16410457;16380385;16185081;16168958;16120612;15979078;15970294;15910850;15749707;15681296;15632171;15576377;15561721;15509885;15492319;15489334;15345670;15342124;15226391;15186961;15166784;15102890;15072554;14967816;14726519;14701812;14676281;14652019;14566094;14551195;12968020;12966036;12913001;12807968;12788901;12763030;12663276;12568179;12562842;12555245;12519372;12477932;12417285;12356718;12227853;12207878;12164779;12138091;12119305;12100619;12039952;12016218;11952809;11944916;11575708;11238031;11196441;10829064;7689561;7539776;4838888;1076467;21454587;20844007;17784784;18930459;19156545;19170196;19229312;19489872;19625176;19689828;19692168;19718657;19776133;19806217;19828610;19837407;19878569;19948975;19996318;20031551;20032583;20064494;20085651;20156043;20160195;20167577;20186155;20331378;20379614;20442857;20304957;20551015;20629037;20718868;20724701;20060115;20713650;20962076;21131975;21226579;20734064;20835684;20855565;19913121;20057170;20602615;20628086;20677014;20686565;23041084;20949066;21289254;21454568;21480869;22583964;23023567;23091409;21531995;19497383;21525007;21551950;21512283;18781797;21485189;21987572;22097902;21139048;21890473;21906983;22503545;22579005;22182283;22262054;21917726;21729881;22178419;22390933;22425645;22442701;21963094;23000965;23133640;21145461;22628436;23029167;23192982;23118302;23510561;22268729;19620049;22614118;22767607 949 B3KW46;B4DZ71;B7ZKQ9;F5H4X0;F5H5E8;F8W8N0;Q8WTV0 AB209436;ABBA01060364;ABBA01060365;ABBA01060366;ABBA01060367;ABBA01060368;AC073593;AC126309;AF254409;AF515445;AK124112;AK302779;AK304730;AMYH01004851;BC022087;BC034322;BC080647;BC093732;BC112037;BC143319;BG770204;CA428516;CH471054;NG_028199;NM_001082959;NM_005505;Z22555 AAF91347;AAH80647;AAH93732;AAI12038;AAI43320;AAQ08185;ABM83763;ABM87082;BAD92673;BAG54008;BAG63983;BAG65493;CAA80277;EAW98458;EAW98459;EAW98460;EAW98461;EAW98462;NP_001076428;NP_005496;Q8WTV0 Hs.731377 1646200;1707372;1720761;1746365;1750605;1798120;2126336;2128696;2164826;2179742;5092878;5118444;5120267;5494108 A009B29;D11S3316;G32387;G59354;G64578;GDB:228077;RH11185;RH46525;RH64878;SCARB1_2043;SHGC-111902;SHGC-84469;UniSTS:66150;fe49f02.x1 CD36L1;CLA-1;CLA1;HDLQTL6;MGC138242;SR-BI;SRB1 CD36 and LIMPII analogous 1;CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1;CD36 antigen-like 1;OTTHUMP00000239001;OTTHUMP00000239002;OTTHUMP00000239003;OTTHUMP00000239004;OTTHUMP00000239005;collagen type I receptor, thrombospondin receptor-like 1;scavenger receptor class B member 1;scavenger receptor class B type 1;scavenger receptor class B type III 2289510;2289628;2289630;2289632 BW451_H;BW500_H;BW501_H;BW502_H APPROVED protein-coding ENSG00000073060 1664 03024 601040;610762 REVIEWED 1602773 SCARNA2 small Cajal body-specific RNA 2 1 1 1 q13.1 107912195 107912614 + 109444338 109444757 + 109642815 109643234 + 6480464 15556860;12477932;19906720 677766 ABBA01068371;AL356488;AMYH01000928;BC071822;BK005568;NR_003023 Hs.550815 HBII-382;mgU2-25/61 miscrna ENSG00000238881;ENSG00000270066 32558 PROVISIONAL 1314385 SCARF2 scavenger receptor class F, member 2 The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 22 22 22 q11.21 4265595 4278869 - 19108875 19122146 - 20778874 20792146 - 1580863;6480464 17474147;15489334;12477932;12154095;20887961 91179 Q96GP6 AB024433;AB052951;ABBA01015456;AC007731;AF088043;AF522196;AMYH01012534;AW301146;BC000584;BC009326;CH471176;NG_031868;NM_153334;NM_182895 AAH00584;AAH09326;AAI72421;AAN45861;BAC53753;BAD93345;EAX02965;EAX02966;NP_699165;NP_878315;Q96GP6 Hs.474251 1697520;1798124 RH102264;SCARF2_2110 NSR1;SREC-II;SREC2;SRECRP-1;VDEGS OTTHUMP00000198480;OTTHUMP00000198481;scavenger receptor class F member 2;scavenger receptor expressed by endothelial cells 2 protein APPROVED protein-coding ENSG00000244486 19869 15299 600920;613619 REVIEWED 1349660 SCD5 stearoyl-CoA desaturase 5 Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008] 4 4 4 q21.22 80841716 81011030 - 83769714 83939034 - 83550690 83720010 - 737633;6480464 12477932 17468887;16806233;15907797;15610069;12727354;12815040;20379614;19913121;20628086;20634891;16712791;22046234;21139048;21890473;21906983;22745828 79966 Q86SK9;Q86UC8;Q9BSN4 ABBA01063439;ABBA01063440;ABBA01063441;ABBA01063442;ABBA01063443;ABBA01063444;AC073413;AF389338;AK024685;AL831891;AMYH01014355;AMYH01014356;BC004936;BC048971;BC137429;BC137432;CB155881;CH471057;DB479400;DR763368;NM_001037582;NM_024906 AAH04936;AAH48971;AAI37430;AAI37433;AAP31443;AAY40977;BAB14961;CAD38567;EAX05902;EAX05903;EAX05904;EAX05905;NP_001032671;NP_079182;Q86SK9 Hs.379191 1649589;1652256;1652258;1657263;1662137;1671532;1720365;1721805;1770351;1853995;1856547;2118028;2127752;2129107;2144744;2150874;2169066;2190797;5037552;5094260 A001Y29;D4S1119;D4S1199;D4S2402;D4S2886;D4S3160;D8S2279;G19790;G33585;G54671;G59924;RH123934;RPS26;SHGC-24770;SHGC-51006;SHGC-51070;SHGC-58090;SHGC-59596;SHGC-67695;WI-19688 ACOD4;FADS4;FLJ21032;HSCD5;SCD2;SCD4 OTTHUMP00000160803;OTTHUMP00000160804;acyl-CoA-desaturase 4;stearoyl-CoA 9-desaturase;stearoyl-CoA desaturase 5 APPROVED protein-coding ENSG00000145284 21088 09756 608370 VALIDATED 1348082 SCFD2 sec1 family domain containing 2 4 4 4 q12 51235702 51729727 - 53433906 53926999 - 53739149 54232242 - 737633;1580863;6480464 12477932 15489334;14702039;20395239;20379614;20360068;21139048;21890473;21906983;22797925 152579 D6RCK6;Q8WU76 AB074276;ABBA01003383;ABBA01003384;ABBA01003385;ABBA01003386;ABBA01003387;ABBA01003388;ABBA01003389;ABBA01003390;ABBA01003391;AC023107;AC023154;AC079995;AC098821;AC108153;AK024713;AK096833;AMYH01014181;AMYH01014182;AMYH01014183;AY299407;BC012458;BC021137;BC032453;CH471057;NM_152540 AAH12458;AAH21137;AAH32453;AAP57259;ACT64508;ACT64509;BAC04872;EAX05442;EAX05443;NP_689753;Q8WU76 Hs.302287 1664813;1668137;1695356;1695448;1717921;1748837;1749901;1764509;1779672;1784930;1784984;1785128;2150638;2155544 D4S1036;D4S971;G41945;RH122787;SHGC-100863;SHGC-110508;SHGC-111626;SHGC-112148;SHGC-148110;SHGC-153642;SHGC-155524;SHGC-56914;SHGC-68272;SHGC-68563 FLJ21060;FLJ39514;STXBP1L1 OTTHUMP00000218715;OTTHUMP00000218755;sec1 family domain-containing protein 2;syntaxin binding protein 1-like 1;syntaxin-binding protein 1-like 1 protein-coding ENSG00000184178 30676 15300 VALIDATED 1606286 SCCPDH saccharopine dehydrogenase (putative) 1 1 1 q44 220179744 220223684 + 244954001 244998062 + 246887378 246931439 + 6480464 16710414;16341674;16303743;15489334;14702039;12477932;10810093;17207965;20877624;15166316;22990118;14741744;21987572;21139048;21890473;22505724 51097 Q8NBX0 ABBA01031767;ABBA01031768;AF151807;AK075178;AL591848;AMYH01001904;AMYH01001905;AW515488;BC026185;BG258610;BM786495;CH471148;CQ783258;NM_016002 AAD34044;AAH26185;ADQ32427;BAC11453;CAF86462;EAW77161;NP_057086;Q8NBX0 Hs.498397 1335516;1688863;1762827;1766825;1771605;1847486;2129162;2131282;2169563;5092754 A005Y30;D1S2836;G32308;RH66228;RH66307;RH66503;RH69726;SHGC-146601;SHGC-152198;SHGC-76638 CGI-49;FLJ43187;NET11;RP11-439E19.2 OTTHUMP00000038085;probable saccharopine dehydrogenase;saccharopine dehydrogenase-like oxidoreductase protein-coding ENSG00000143653 24275 13038 VALIDATED 1312935 SCEL sciellin The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008] 13 13 13 q22 59007927 59117523 + 77007860 77116645 + 78109809 78219398 + 1580863;6480464 14632196;11112355;9813070;15274303;12477932;8889548;8125298;1377656;19211270;21832049;18029348 8796 F2Z2X8;O95171 ABBA01021662;ABBA01021663;ABBA01021664;AF045941;AK025320;AK222720;AK301659;AL137140;AMYH01005223;BC020726;BC047536;BM973059;CH471093;DC372982;NM_001160706;NM_003843;NM_144777 AAC78461;AAH20726;AAH47536;ADZ15567;BAD96440;BAH13533;EAW80568;EAW80569;NP_001154178;NP_003834;NP_659001;O95171 Hs.534699 2164544;2185602 D13S747;RH68041 FLJ21667;MGC22531 OTTHUMP00000018525;OTTHUMP00000018526;sciellin APPROVED protein-coding ENSG00000136155 10573 09161 604112 VALIDATED 5687803 SCGB1B2P secretoglobin, family 1B, member 2, pseudogene 19 q13.11 35067638 35068596 - 22155607 643719 ABBA01018723;AC022143;AMYH01009718;CA429783;CD173361;CS300803;NR_027620 CAK32467 Hs.686754 1715443 RH120860 SCGB4A1P pseudo ENSG00000268751 20741 PREDICTED 734327 SCG2 secretogranin II The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008] 2 2 q35-q36 224169902 224175365 - 224461658 224467217 - 1580863;6480464 22217803;9473216;14970115;17474147;2745426;18549351;18448176;18239671;17584765;16807684;16101435;15815621;15572199;15489334;12788858;12477932;11853870;10678772;10648883;10619397;9709974;9654353;9100282;8825061;8617499;2053134;1425774;22655045;21145461;16344560;16713569;18721831;20200953;23081990;20550951;21046454;22118674;21628590;22095909 7857 C9JDT0;C9JQI2;P13521 ABBA01023795;AC012512;AF106540;AF145702;AK298828;AK312452;AMYH01011523;BC022509;CH471063;DA271642;M25756;NG_027998;NM_003469 AAA36607;AAH22509;AAY24243;BAG35359;BAG60958;EAW70811;NP_003460;P13521 Hs.516726 1796722;2113924;2116878;2126184;2166708 RH17683;RH35885;SCG2;SCG2_390;SHGC-12518 CHGC;EM66;SN;SgII EM66;OTTHUMP00000164218;OTTHUMP00000203781;OTTHUMP00000203782;chromogranin-C;secretogranin 2;secretogranin-2;secretoneurin APPROVED protein-coding ENSG00000171951 10575 06762 118930 REVIEWED 735301 SCD stearoyl-CoA desaturase (delta-9-desaturase) This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Feb 2012] 10 10 q24.31 102096762 102114578 + 102106772 102124588 + 1304415;1580863;6480464;7240710 12896875 10229681;19154947;18952834;18832746;18813799;18697866;18660489;18499418;18340007;18286258;18030445;17852835;17636091;17614770;16723740;16213227;15907797;15855323;15851470;15708362;15662557;15609334;15489334;15164054;14967823;14967817;14683458;12477932;12401889;12061775;11677241;11415448;11397803;11181995;10922050;9362069;8125298;7909540;6102994;21148;21775116;20395685;19913121;20599700;20628086;21832049;15610069;16385451;18029348;19130493;19478146;19710915;20032470;22457791;20565855;20579763;21045174;20713121;23015656;21179554;21331774;21060977;23221600;23013158;23019225;22049297;21544602;21898701;21674150;18781797;19953087;20639865;21139048;21890473;21906983;21987572;22026420;22209225;22046234;21658928;21831035;21886157;19322201;21963094;23000965;23139775;23362303;22819528;23208590;23331615;22505724;22946088 6319 Q59GX7;Q96KF6 AB032261;AB208982;ABBA01063228;AF097514;AF109362;AF320307;AI740935;AK222862;AK312312;AL139819;AMYH01002998;BC005807;BC062303;BI827092;BM546583;BU940035;CD245516;CF454075;CH471066;NM_005063;S70284;Y13647 AAB30631;AAD29870;AAH05807;AAH62303;AAK54510;AAQ13510;BAA93510;BAD92219;BAD96582;BAG35237;CAA73998;EAW49827;EAW49828;EAW49829;EAW49830;NP_005054;O00767 Hs.558396 1652590;1653006;1682259;1850090;2150488;2153070;2153503;2167447;2176711;2176713 A002P35;D10S1355E;D10S2199;IB293;RH11040;RH11163;RH11186;RH45424;SHGC-34978;STS-S70284 FADS5;MSTP008;SCD1;SCDOS OTTHUMP00000020279;OTTHUMP00000020280;acyl-CoA desaturase;delta(9)-desaturase;delta-9 desaturase;delta-9-desaturase;fatty acid desaturase;predicted protein of HQ0998;stearoyl-CoA desaturase opposite strand APPROVED protein-coding ENSG00000099194 10571 04941 212140;604031 VALIDATED 732003 SCG3 secretogranin III The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 15 15 q21 49760842 49800515 + 51973550 52013223 + 6480464;7240710 14597614;19150442;18448176;17200173;16303743;15489334;15125023;12975309;12533531;12477932;12388744;12098761;8825061;7917832;2053134;14630798;20159242;20550951;21046454;21796137;22987761 29106 H0YKC2;Q8WXD2 ABBA01039080;AC020892;AF078851;AF453583;AK075314;AK290175;AK296466;AMYH01006645;AMYH01006646;AMYH01006647;AY359093;BC009511;BC014539;BI552493;CH471082;NG_013214;NM_001165257;NM_013243 AAD44483;AAH09511;AAH14539;AAL67431;AAQ89451;BAF82864;BAG52108;BAG59111;EAW77425;EAW77426;NP_001158729;NP_037375;Q8WXD2 Hs.232618 1338260;1650407;1798126;1848684;2118299;5113026 D15S1017;RH26968;RH67999;SCG3_1974;SHGC-3227;SHGC-36808 FLJ90833;SGIII OTTHUMP00000162544;secretogranin-3 APPROVED protein-coding ENSG00000104112 13707 11538 253700;611796 REVIEWED 1350281 SCFD1 sec1 family domain containing 1 14 14 14 q12 10957301 11070796 + 30161272 30274769 + 31091460 31205034 + 1580863;633771;6480464 9195952 12506202;18029348;15489334;15302935;14702039;14565970;12665801;21145461;12477932;10048485;8125298;11927603;10903204;16169070;15029241;20562859;15649705;19176879;19536132;20379614;22939629;21139048;21890473;21906983;11329013;16344560;23383273;17400507;22053931 23256 B7Z5N7;B7Z738;G3V2M8;G3V363;G3V3K9;G3V4I1;G3V551;G3V5E2;G3V5F3;H0YIZ7;H0YJS6;H0YJY1;J3KNG4;Q9UNL3 AB020724;ABBA01061403;AF067205;AF086916;AF092139;AF110646;AF319958;AK022127;AK222820;AK290410;AK297873;AK298622;AK299222;AK301406;AK307960;AK308587;AK316212;AL121852;AMYH01005636;AMYH01005637;AMYH01005638;BC017734;BG028643;BG212062;BU198450;BX325898;CA454055;CD697934;CH471078;DA151789;DB105324;DN993082;NM_001257376;NM_016106;NM_182835;NR_047546;NR_047547;NR_047548 AAC17907;AAD40381;AAD48586;AAG50273;AAH17734;AAP97146;BAA74940;BAD96540;BAF83099;BAH12683;BAH12830;BAH12973;BAH13474;BAH14583;EAW65967;EAW65968;NP_001244305;NP_057190;NP_878255;Q8WVM8 Hs.369168 1649015;1671800;1672464;1709956;1710868;1749291;1753401;2129241;2144867;5015404;5024413 L17705;L17877;RH44375;RH44525;RH46244;RH68476;SHGC-107171;SHGC-110964;SHGC-24139;SHGC-82246;SHGC-84212 C14orf163;KIAA0917;RA410;SLY1;SLY1P;STXBP1L2 OTTHUMP00000028197;OTTHUMP00000178786;OTTHUMP00000244059;OTTHUMP00000244066;SLY1 homolog;sec1 family domain-containing protein 1;sly1p;syntaxin-binding protein 1-like 2;vesicle transport-related protein protein-coding ENSG00000092108 20726 10210 VALIDATED 6483489 SCGB1D5P secretoglobin, family 1D, member 5, pseudogene 4 166438428 166438652 - 22155607 100874258 ABBA01070296;AC012504;AMYH01014673;NG_032727 SCGB1D1P1 pseudo 42735 INFERRED 731406 SCG5 secretogranin V (7B2 protein) 15 15 q13-q14 30721252 30776590 + 32933870 32989298 + 1580863;6480464 17334394;3134253;7913882;19058789;18448176;17617923;16713569;15489334;15342556;14767469;12646671;12477932;11439082;8617287;8162254;7722516;6625600;3530373;3293987;3234177;2840270;2776483;1989596;16169070;21901745;15604093;21988832;22947085;21761138;23172224;23251661 6447 C9J650;C9JNY7;H7C4X7;P05408;Q6FHD0 ABBA01038563;AC123768;AJ290438;AK314965;AMYH01006505;BC005349;BC093053;BP377248;CH471125;CR541824;NM_001144757;NM_003020;Y00757 AAH05349;AAH93053;CAA68726;CAB90397;CAG46623;EAW92261;EAW92262;EAW92263;NP_001138229;NP_003011;P05408 Hs.156540 1644136;1748597;2131956;2174247;2217972;7188008 RH45863;SGNE1_3213;SHGC-110252;STS-Y00757;WI-18351 7B2;P7B2;SGNE1;SgV OTTHUMP00000215364;OTTHUMP00000215365;OTTHUMP00000215366;OTTHUMP00000215367;OTTHUMP00000215368;neuroendocrine protein 7B2;pituitary polypeptide;prohormone convertase chaperone;secretogranin-5;secretory granule endocrine protein I;secretory granule, neuroendocrine protein 1 (7B2 protein) protein-coding ENSG00000166922 10816 01410 173120 VALIDATED 1606365 SCGB1D4 secretoglobin, family 1D, member 4 11 11 11 q12.3 59393130 59395911 - 61820330 61823112 - 62063754 62066536 - 6480464 15340161;15034037;12975309;12477932;22155607 404552 Q6XE38 ABBA01003221;AMYH01003687;AP003306;AY236538;AY359052;BC130639;BC130645;CH471076;NM_206998 AAI30640;AAI30646;AAP69948;AAQ89411;ADR82780;EAW74011;NP_996881;Q6XE38 Hs.473247 IFN-gamma inducible SCGB (IIS);IFN-gamma-inducible secretoglobin;IIS;OTTHUMP00000236067;secretoglobin family 1D member 4 protein-coding ENSG00000197745 31748 15301 615062 PROVISIONAL 1351548 SCGB1C1 secretoglobin, family 1C, member 1 11 11 11 p15.5 87947 89440 + 183080 184573 + 193080 194573 + 6480464 16381901;12477932;12406855;11076863;1915264;15489336;15489334;22155607 147199 Q8TD33 ABBA01011167;AC069287;AMYH01003275;AY026938;BC069287;BC111427;BC111433;BK000201;NM_145651 AAH69287;AAI11428;AAI11434;AAK08972;CAL37525;CAL38648;CAL38680;DAA00358;NP_663626;Q8TD33 Hs.127059 5492487;5492795 UniSTS:481246;UniSTS:482622 RYD5 OTTHUMP00000230134;ligand binding protein RYD5;secretoglobin RYD5;secretoglobin family 1C member 1 protein-coding 18394 18024 610176 VALIDATED 735247 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) This gene encodes a member of the secretoglobin family of small secreted proteins. The encoded protein has been implicated in numerous functions including anti-inflammation, inhibition of phospholipase A2 and the sequestering of hydrophobic ligands. Defects in this gene are associated with a susceptibility to asthma. [provided by RefSeq, May 2010] 11 11 q12.3 61943099 61947243 + 62186507 62190678 + 1580863;5144208;5144210;5147386;5144135;5144211;5144123;5144139;5144051;5144130;5144055;5143982;5144143;5144142;5144052;5144234;5144215;5144148;5144226;6480464;6903255;2313129;6484113;6903251;7240710 12847279;11597923;11981419;17882576;11435254;21567110;16369113;15799573;21239758;11107082;18420837;15608088;16226776;12921604;15836756;9555576;15467329;21255142;11967037;18824919;18558621 10587371;19263529;19258923;19247692;19225544;19222419;19131662;19128353;19076932;19028820;19019335;18976364;18974840;18818748;18702901;18521628;18316584;18243143;18201431;17957145;17928103;17716718;17703412;17693780;17531233;17507989;17338426;17207022;17094107;16797381;16764982;16703373;16690962;16423471;16387800;16215398;16081627;16061484;15829319;15813809;15744536;15677460;15549500;15489334;15480316;15297273;15148962;15148333;14990020;14735466;14719079;14669228;14551164;12927696;22558282;12642831;12477932;12204889;12127976;12200800;12100044;12082592;12014016;12003994;11788998;11774099;11434507;11278724;11258696;11193760;10470078;9643286;9022046;7733299;7664082;7521325;3275712;3167058;1395029;1284526;20536507;20603037;20677014;20736038;20664959;16344560;19132521;19423540;19479237;19527514;19559392;19632988;19729601;19789190;19852548;20037209;20237496;20395963;20406964;20438785;20503287;19887851;20683434;20553297;21299834;23030587;21131866;22155607;21799131;22902791;21045740;21767304;22805990;21952535;22788242;22613976;22883104;23144326 7356 E9PN95;P11684 ABBA01003223;ABBA01003224;AK312165;AMYH01003688;AP003064;BC004481;CH471076;CR541780;DB196705;NG_021331;NM_003357;U01101;U01102;X13197;X59875 AAA18297;AAA81885;AAH04481;ABM84301;ABM87768;BAG35099;CAA31584;CAA42532;CAG46579;EAW74018;NP_003348;P11684 Hs.523732 1775424;1848405 RH71458;UGB CC10;CC16;CCPBP;CCSP;UGB;UP-1;UP1 OTTHUMP00000236107;blastokinin;clara cell phospholipid-binding protein;clara cells 10 kDa secretory protein;secretoglobin, family 1a, member 1;urinary protein 1;urine protein 1;uteroglobin APPROVED protein-coding ENSG00000149021 12523 01884 192020;600807 REVIEWED 1351140 SCGB1D1 secretoglobin, family 1D, member 1 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008] 11 11 11 q13 59287151 59290450 + 61714286 61717585 + 61957710 61961009 + 1580863;6480464 10066439;15489334;12477932;9720917;22155607 10648 O95968 ABBA01003219;AJ224171;AMYH01003685;AP002793;AP003306;BC062693;BC069170;BC069289;CH471076;NM_006552 AAH62693;AAH69170;AAH69289;CAA11863;EAW74007;NP_006543;O95968 Hs.202686 LIPA;LPHA;LPNA;MGC71958 OTTHUMP00000236062;lipophilin A (uteroglobin family member);lipophilin-A;prostatein-like lipophilin A;secretoglobin family 1D member 1 APPROVED protein-coding ENSG00000168515 18395 18025 615060 REVIEWED 1345787 SCGB1D2 secretoglobin, family 1D, member 2 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008] 11 11 11 q13 59339186 59341742 + 61766300 61768856 + 62009724 62012280 + 1580863;6480464 10066439;18630503;17163411;15668787;15489334;12576445;12477932;12022875;9720917;22155607;21139048 10647 O95969 ABBA01003220;AJ224172;AL708956;AMYH01003685;AP003306;BC069290;BC104838;BC104840;CH471076;NM_006551 AAH69290;AAI04839;AAI04841;CAA11864;EAW74009;NP_006542;O95969 Hs.204096 LIPB;LPHB;LPNB OTTHUMP00000236064;lipophilin B (uteroglobin family member), prostatein-like;lipophilin-B;prostatein-like lipophilin B;secretoglobin family 1D member 2 APPROVED protein-coding ENSG00000124935 18396 18026 615061 REVIEWED 1347983 SCGB2A1 secretoglobin, family 2A, member 1 11 11 q13 61732716 61737984 + 61976140 61981411 + 1580863;6480464 18416968;18021217;16166429;16020486;15489334;15151203;12826312;12539042;12477932;12022875;11446459;10066439;9806831;9720917;9504814;19635143;20306663;22155607;22118674 4246 O75556 ABBA01003220;AF071219;AJ224173;AMYH01003685;AP003306;BC062218;CH471076;GN341832;NM_002407 AAC79996;AAH62218;CAA11865;CAY39335;EAW74008;NP_002398;O75556 Hs.97644 1782412 SHGC-154842 LPHC;LPNC;MGB2;MGC71973;UGB3 OTTHUMP00000236063;lacryglobin;lipophilin C;lipophilin-C;mammaglobin 2;mammaglobin B;mammaglobin-2;mammaglobin-B protein-coding ENSG00000124939 7051 05096 604398 VALIDATED 6480294 SCGB2B3P secretoglobin, family 2B, member 3, pseudogene 19 q13.11 35136778 35136957 + 12477932;22155607 100130342 ABBA01018726;AC020910;AMYH01009718;BC114619;NR_045208 AAI14620 Hs.679909 C2B;SCGB4A3P pseudo 31895 PROVISIONAL 1604182 SCGB2B2 secretoglobin, family 2B, member 2 19 19 19 q13.11 31796754 31797898 - 39776186 39777330 - 35084346 35085490 - 14702039;12477932;22155607 284402 Q4G0G5 ABBA01018724;AC022143;AK093495;AMYH01009718;BC093909;BC093935;BX105421;NM_001025591 AAH93909;AAH93935;NP_001020762;Q4G0G5 Hs.656990 5493249 UniSTS:485427 SCGB4A2;SCGBL secretoglobin family 2B member 2;secretoglobin-like;secretoglobin-like protein APPROVED protein-coding ENSG00000205209 27616 18770 615063 VALIDATED 1345224 SCGB2A2 secretoglobin, family 2A, member 2 11 11 q13 61794206 61797204 + 62037630 62040628 + 1580863;6480464 12477932;18841443;18630503;18451221;18416968;18303409;18289390;18251583;17653857;17192791;17071045;16925986;16761620;16760290;16203799;16110760;15609337;15489334;15447988;15151203;14696125;12539042;12022875;9754584;9488047;9419211;8631025;20586026;18846421;19217055;19690758;20092039;20306663;20920982;21411781;21623075;22155607;21473729;23212340;21744998;22074997;21939647;22897908;21976532;22994369;22963676 4250 Q13296;Q6NX70 ABBA01003220;AF015224;AMYH01003685;AP003306;AY217100;BC067220;BC128252;BC128402;CH471076;NM_002411;U33147 AAC39608;AAC50375;AAH67220;AAI28253;AAI28403;AAO60111;EAW74010;NP_002402;Q13296 Hs.46452 MGB1;MGC71974;UGB2 OTTHUMP00000236065;mammaglobin 1;mammaglobin A;mammaglobin-1;mammaglobin-A protein-coding ENSG00000110484 7050 05712 605562 PROVISIONAL 1352722 SCKL2 Seckel syndrome 2 7240710 11781686 347729 20805 251255;606744 1347820 SCKL3 Seckel syndrome 3 7240710 14571270 386616 20806 1343531 SCGB3A1 secretoglobin, family 3A, member 1 5 5 q35-qter 179949711 179951093 - 180017105 180018487 - 1580863;6480464 18483325;21274384;11481438;19470737;19258476;19098448;18950845;17623056;17545522;16266985;15489334;15472908;15383627;15340161;14977834;14614327;14601057;12975309;12847263;12727813;12477932;12438750;12406855;12175512;20496080;20642860;19509163;20505321;22695491;22095135;22155607;21812955;22048254;22871047 92304 Q96QR1 ABBA01010072;AC122714;AF086152;AF313458;AF436839;AMYH01015969;AY040564;AY359064;BC029176;BC072673;CH471165;NM_052863 AAH29176;AAH72673;AAK82942;AAL26217;AAQ04481;AAQ89423;EAW53751;NP_443095;Q96QR1 Hs.62492 HIN-1;HIN1;LU105;MGC87867;PnSP-2;UGRP2 OTTHUMP00000161545;cytokine HIN-1;cytokine high in normal-1;high in normal 1;pneumo secretory protein 2;secretoglobin family 3A member 1;uteroglobin-related protein 2 protein-coding ENSG00000161055 18384 05932 606500 VALIDATED 1346821 SCGB3A2 secretoglobin, family 3A, member 2 The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010] 5 5 q32 147238467 147241946 + 147258274 147261756 + 5144233;5144231;5144230;5147390;5147389;5144225;5147392;5128690;5144129;5144229;5144232;6480464;7240710 16456148;18089940;18201431;20466451;21385388;21410962;19418968;15531759;21478551;11813133;17218572 15485815;19247692;19126779;16195814;15591807;15489334;12975309;12847263;12477932;12175512;11682631;10949149;8557195;20210668;20843168;21170691;22155607 117156 D6RBX5;Q2L6B3;Q96PL1 AA988559;AB223046;ABBA01026321;AC011352;AF313455;AF439544;AF439545;AMYH01015693;AY358979;BC024232;CH471062;NG_016867;NM_054023 AAH24232;AAL26215;AAQ04559;AAQ04560;AAQ89338;ABM84019;ABM87364;BAE78654;EAW61818;NP_473364;Q96PL1 Hs.483765 5112207 RH102354 LU103;PNSP1;UGRP1;pnSP-1 OTTHUMP00000160144;pnSP-1;pneumo secretory protein 1;secretoglobin family 3A member 2;uteroglobin-related protein 1 APPROVED protein-coding ENSG00000164265 18391 05940 600807;606531 REVIEWED 1347901 SCGN secretagogin, EF-hand calcium binding protein The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008] 6 6 p22.3-p22.1 25760408 25809990 + 25652429 25702011 + 1580863;6480464 10811645;19084217;17083620;16189514;15766553;15489334;15237930;14702039;14574404;12477932;11709487;19503597;23102406;20529129;21288557;22921511;22474393;21976236 10590 O76038;Q96P10 ABBA01066548;AF420280;AK094387;AK289477;AL022170;AL512384;AMYH01016160;BC000336;BC003036;BM511122;BQ477463;CH471087;NM_006998;Y16752 AAH00336;AAH03036;AAL16052;BAF82166;CAA76365;EAW55487;EAW55488;NP_008929;O76038 Hs.116428 1678203;2108905;2119088;2123125 AL021842;D6S1468;RH99089;SCGN_9148 CALBL;DJ501N12.8;SECRET;SEGN;setagin OTTHUMP00000016124;calbindin-like;secretagogin APPROVED protein-coding ENSG00000079689 16941 10211 609202 REVIEWED 1320587 SCHIP1 schwannomin interacting protein 1 3 3 3 q25.32-q25.33 157413298 158036888 + 160474238 161097833 + 158991036 159615155 + 6480464 10669747;18029348;18311140;17045569;14702039;12477932;11701967;9110174;8619474;15867431;19197348;20190752;20379614;18550753;19913121;20628086;20195357;23377640 29970 C9JWG6;F8WDG0;Q9P0W4 ABBA01058802;ABBA01058803;ABBA01058804;ABBA01058805;ABBA01058806;AC021654;AC063955;AC068770;AC092861;AC092943;AC107312;AC131150;AF070614;AF145713;AF145714;AF145715;AK091871;AK309223;AK314662;AMYH01013610;AMYH01013611;AMYH01013612;AMYH01013613;BC005947;BC036535;BX648179;CA431197;CH471052;DB466706;NM_001197107;NM_001197108;NM_001197109;NM_014575 AAC25386;AAF34241;AAF34242;AAF34243;AAH05947;AAH36535;ABM82116;ABM85300;BAG37220;BAG52432;EAW78659;EAW78660;EAW78661;EAW78662;NP_001184036;NP_001184037;NP_001184038;NP_055390;Q9P0W5 Hs.134665 1336947;1338557;1646649;1646651;1668681;1670474;1689175;1709040;1710094;1714317;1724521;1726493;1758081;1758203;1760485;1761845;1773784;2120744;2125580;2128994;2160226;2172682;2175127;2188233;2188237;2190533;5017789;7186561 A005Y17;D3S1553;D3S3354;D3S3362;D3S3575;D3S4144;EST19B11;G09404;G09423;G16599;G20592;G62626;G66290;G66292;L18085;RH119938;RH122520;RH44994;RH80343;SCHIP1;SHGC-143377;SHGC-145793;SHGC-147311;SHGC-147652;SHGC-53521;SHGC-79593;SHGC-83714 FLJ39160;SCHIP-1 OTTHUMP00000213674;OTTHUMP00000213675;OTTHUMP00000213676;OTTHUMP00000213677;OTTHUMP00000213678;OTTHUMP00000213679;OTTHUMP00000221996;schwannomin interacting protein 1 variant 1;schwannomin interacting protein 1 variant 2;schwannomin-interacting protein 1 protein-coding ENSG00000151967;ENSG00000250588 15678 15302 VALIDATED 1604451 SCIMP SLP adaptor and CSK interacting membrane protein This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 17 17 17 p13.2 5131553 5155751 - 5054429 5078861 - 5113901 5138083 - 6480464 18029348;14702039;12975309;12477932;21930792 388325 A6XGL4;I3L1W2;Q6UWF3 ABBA01054798;AC087500;AK057142;AK297035;AK310145;AMYH01008047;AMYH01008048;AY358809;BC127925;BC130554;BC130556;BC144395;CH471108;DQ778084;NM_001271842;NM_207103 AAI27926;AAI30555;AAI30557;AAI44396;AAQ89169;ABI63348;ADR82817;ADR83350;BAG59563;EAW90348;EAW90349;EAW90350;NP_001258771;NP_996986;Q6UWF3 Hs.462080 1661839;1669500;2142382;5015961;5016478;5016851;5022200;5022463;5037552;5109281 D15S1477;D17S659;D1S1425;D3S1673;D8S2279;GDB:434012;L18426;RH18233;RH80031;SHGC-33773 C17orf87;FLJ32580;MGC163426;MGC163428;UNQ5783 DTFT5783;OTTHUMP00000163835;SLP adapter and CSK-interacting membrane protein;SLP65/SLP76, Csk-interacting membrane protein;transmembrane protein C17orf87 APPROVED protein-coding 33504 18267 614406 REVIEWED 6893012 SCML2P1 sex comb on midleg-like 2 (Drosophila) pseudogene 1 18 6926973 6928214 + 100421167 ABBA01049901;AMYH01008789;AP005210;NG_026306 pseudo 44329 INFERRED 6893013 SCML2P2 sex comb on midleg-like 2 (Drosophila) pseudogene 2 16 25080893 25081622 + 100421172 ABBA01017114;AC133552;AMYH01007395;NG_026403 pseudo 44330 INFERRED 731355 SCLT1 sodium channel and clathrin linker 1 SCLT1 acts as a linker protein between the voltage-gated sodium channel Na(v)1.8 (SCN10A; MIM 604427) and clathrin (see CLTC, MIM 118955) (Liu et al., 2005 [PubMed 15797711]).[supplied by OMIM, Mar 2008] 4 4 4 q28.2 127187192 127396780 - 130024602 130234214 - 129805152 130014764 - 6480464 15797711;14702039;12766061;12477932;22087225;20098747;19615732;18029348;15840729 132320 D6RBA6;D6RBP0;D6RDM2;Q96NL6 ABBA01044829;ABBA01044830;AC093783;AC093826;AK055217;AK093361;AK122852;AMYH01014515;BC014677;BC040258;BC064428;BC121057;BC121058;BC128051;CD679143;CD691962;CH471056;NM_144643 AAH64428;AAI21058;AAI21059;AAI28052;BAB70876;EAX05167;EAX05168;EAX05169;NP_653244;Q96NL6 Hs.654690 1647650;1660845;1673771;1677919;1707758;1715143;1751311;2120742;2127595;2132852;2143299;2154619;2155644;2172216;2172861;2182417;2182702;2183939;2184643;5022200;5037552 D4S3316;D4S443;D4S509;D4S555;D4S818;D8S2279;G34096;L18426;RH119524;SHGC-105183;SHGC-13256;SHGC-35766;SHGC-50205;SHGC-50297;SHGC-50751;SHGC-51552;SHGC-67344;SHGC-82098;SHGC-8635;SHGC4-1667;WI-20811 CAP-1A;CAP1A;FLJ30655;FLJ36042;MGC70542;hCAP-1A OTTHUMP00000164485;sodium channel and clathrin linker 1;sodium channel-associated protein 1 APPROVED protein-coding ENSG00000151466 26406 08700 611399 VALIDATED 1349086 SCN10A sodium channel, voltage-gated, type X, alpha subunit The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. [provided by RefSeq, Dec 2011] 3 3 p22.2 38713841 38810505 - 38738837 38835501 - 1580863;6480464;6484251;6484253 21965668;19070548 19953341;9839820;19164297;16598065;16506887;16382098;12591166;10198179;15797711;19233853;19563686;19699781;19877286;20018876;20062060;20062061;20062063;20237269;20379614;21041692;21076409;20720009;21646736;23115331;23047628;22618805;23139255;23273568;23463857 6336 Q9Y5Y9 ABBA01024817;ABBA01024818;AC116038;AC137625;AF117907;AMYH01013095;CH471055;CQ891317;NG_031891;NM_006514 AAD30863;AAI72222;CAH68722;EAW64543;NP_006505;Q9Y5Y9 Hs.250443 1729462;2217940 D3S1100;SCN10A_3461 Nav1.8;PN3;SNS;hPN3 OTTHUMP00000045936;peripheral nerve sodium channel 3;sodium channel protein type 10 subunit alpha;sodium channel protein type X subunit alpha;sodium channel, voltage-gated, type X, alpha polypeptide;voltage-gated sodium channel subunit alpha Nav1.8 APPROVED protein-coding ENSG00000185313 10582 09188 604427 REVIEWED 1342640 SCN11A sodium channel, voltage-gated, type XI, alpha subunit Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004] 3 3 3 p22.2 38826267 38932035 - 38862264 38967056 - 38887260 38992052 - 6480464 10444332;10623608;16382098;15302875;12536125;12384689;11144347;10580103;21857998 11280 Q9UI33;Q9UKU5 ABBA01024815;ABBA01024816;ABBA01024817;AC116038;AC123903;AF109737;AF126739;AF150882;AF188679;AJ417790;AMYH01013095;AMYH01013096;AMYH01013097;AY686224;CH471055;CS275932;NM_014139 AAD53407;AAF17480;AAF24976;AAF24980;AAI72234;AAT95434;CAD10507;CAJ84379;EAW64544;EAW64545;EAW64546;NP_054858;Q9UI33 Hs.591657 5022200;5022450;5037552 D10S275;D8S2279;L18426 NAV1.9;NaN;SCN12A;SNS-2 OTTHUMP00000045937;OTTHUMP00000209286;OTTHUMP00000209287;PN5;hNaN;peripheral nerve sodium channel 5;sensory neuron sodium channel 2;sodium channel protein type 11 subunit alpha;sodium channel protein type XI subunit alpha;sodium channel, voltage-gated, type XI, alpha polypeptide;sodium channel, voltage-gated, type XII, alpha polypeptide;sodium channel, voltage-gated, type xi, alpha;voltage-gated sodium channel Nav1.9;voltage-gated sodium channel subunit alpha Nav1.9 APPROVED protein-coding ENSG00000168356 10583 05090 604385 VALIDATED 1351823 SCN12A sodium channel, voltage-gated, type XII, alpha 10623608 337933 AF109737 10584 1350815 SCIN scinderin SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010] 7 7 p21.3 12595673 12659752 + 12610203 12693228 + 1580863;6480464 11568009;16344560;16303743;15489334;15342343;14702039;12853948;12477932;12438125;11572484;9819354;1621245;1331119;19666531;18029348 85477 C9JGB6;E5RHN8;E5RHX6;F8WBX5;Q9Y6U3 AACC02000009;AB067492;ABBA01056574;ABBA01056575;AC005281;AC011891;AC073232;AF276507;AK027778;AK075123;AK075198;AK290363;AMYH01017074;AMYH01017075;BC021090;CA447429;CA448540;CH236948;CH471073;DB196860;NM_001112706;NM_033128 AAD15423;AAH21090;AAK60494;AAS07450;ABM82959;ABM86150;BAB55361;BAB67798;BAC11416;BAC11465;BAF83052;EAW93645;EAW93646;EAW93647;EAW93648;NP_001106177;NP_149119;Q9Y6U3 Hs.633359;Hs.655515 1649697;1657433;1658103;1667790;1767467;1852587;2131207;2143495;2149901;2152758;2171860;2188597;2219674;5094873 D7S1597;G30497;G66344;GDB:1318599;RH18521;RH66415;RH77952;SCIN;SCIN__5553;SHGC-34183;SHGC-55968;STS-H67781;STS-N71427;STS-R63710 KIAA1905 OTTHUMP00000201578;OTTHUMP00000201579;OTTHUMP00000225142;adseverin APPROVED protein-coding ENSG00000006747 21695 11539 613416 VALIDATED 1343598 SCLY selenocysteine lyase Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008] 2 2 2 q37.3 232682527 232720990 + 238634371 238672793 + 238969565 239008054 + 1580863;6480464;6907045 22291978;22295093;16925092;14702039;12477932;10692412;6461656;1483038;20379614;22863883;21139048;21044950;22505724 51540 B4DDP9;C9JNL5;E7ESG3;E7ESH3;F8WBU3;F8WCL3;H0Y396;H7C1N7;H7C1S7;H7C277;H7C280;H7C2H3;H7C2M1;H7C3V9;H7C4A1;Q59FK2;Q96I15 AB209458;ABBA01042600;ABBA01042601;AC016757;AC016776;AF175767;AK001377;AK127520;AK293283;AK298409;AK301009;AMYH01011601;AMYH01011602;BC000586;BC007891;BC018966;CH471063;DN995828;NM_016510 AAF36816;AAH00586;AAH07891;AAY24221;AAY24333;ABM84160;ABM87563;BAA91659;BAD92695;BAG56810;BAG60637;BAG62626;EAW71135;EAW71136;EAW71137;EAW71138;EAW71139;NP_057594;Q96I15 Hs.731909 1706572;1853457;1855511;2109809;2160091 Cda0ya05;D2S2653;SCLY_9735;SHGC-81267;WI-13471 SCL;hSCL OTTHUMP00000164474;OTTHUMP00000202726;hSCL;selenocysteine lyase APPROVED protein-coding ENSG00000132330 18161 15303 611056 VALIDATED 735777 SCN1A sodium channel, voltage-gated, type I, alpha subunit The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011] 2 2 q24.3 166553916 166638395 - 166845670 167005642 - 727292;1580863;6480464;7240710 10742094 19586930;19522081;19400878;19350499;19339291;19332696;19292758;19289736;19270815;19236456;19220312;19214208;19200853;19070316;19007941;18930999;18784617;18680191;18655196;18632931;18621678;18566737;18554361;18554360;18554359;18489610;18479393;18451712;18413471;18342948;18330841;18294202;18275929;18251839;18175077;18093548;18076640;18056581;18021921;17928445;17927801;17621480;17565594;17544618;17537961;17507202;17436242;17397047;17347258;17065438;17054685;17054684;17030758;17001291;16713920;16541393;16505326;20110217;20675100;21426328;11823106;11779698;11756608;11579435;11524484;11359211;11295230;11254445;11254444;10514109;8062593;2429308;1317301;9412493;16430863;16382098;16380441;16326807;16210358;16054936;15880351;15715999;15525788;15508916;15277629;15263074;15249644;15087100;14738421;14702039;14672992;14504318;13129592;12919402;12837571;12821740;12773292;12754708;12742596;12610651;12566275;12086636;12083760;11940708;22719002;20484682;20194124;20506560;20522430;20602612;20431604;19402159;19464195;19464834;19469841;19585586;19589774;19673951;19694741;19782004;19949041;20037572;20038948;20064729;20410126;20447868;20477842;20600615;20879882;20117752;19099883;20630778;22000312;22341965;22206733;22292851;19563458;20682179;20452746;21248271;21371021;21504425;21504426;21561445;22386634;23066759;23086956;22534457;21555645;21396429;21531204;21377452;21726526;18274552;21762453;21163940;22992729;22578703;21753172;21156207;21843600;20519669;21713554;21890636;21881118;22150645;21864321;21868258;22071555;22011963;22147323;22309220;22151702;22430156;23225037;21906962;22188362;20301494;20301562;22014581;22780858;21940124;23786015;22848613;23291792;22944210;23195492;23398550;23398611;22952603;23158734;22949513;22532537;23093055;23057548 6323 P35498 AB093548;AB093549;AB098335;ABBA01004927;ABBA01004928;AC010127;AC107082;AF225985;AK094487;AK293759;AK294900;AMYH01011229;AY043484;CH471058;EU368117;EU368119;HQ726795;HQ726796;HQ726798;HQ726799;M91803;NG_011906;NM_001165963;NM_001165964;NM_001202435;NM_006920;S71446;X65362 AAB31605;AAK00217;AAK95360;AAX81984;ABY76307;AEJ07962;AEJ07963;AEJ07965;AEJ07966;BAC21101;BAC21102;BAC45228;BAG57178;BAG57989;CAA46439;EAX11318;EAX11319;NP_001159435;NP_001159436;NP_001189364;NP_008851;P35498 Hs.22654 1665065;1676562;2109811;2134033;2187631 A006O14;HSC2FB112;RH47954;RH92200;SCN1A_3451 EIEE6;FEB3;FEB3A;FHM3;GEFSP2;HBSCI;NAC1;Nav1.1;SCN1;SMEI OTTHUMP00000041051;OTTHUMP00000041052;OTTHUMP00000205012;sodium channel protein brain I subunit alpha;sodium channel protein type 1 subunit alpha;sodium channel protein type I subunit alpha;sodium channel protein, brain I alpha subunit;sodium channel voltage gated type 1 alpha subunit;sodium channel, voltage-gated, type I, alpha polypeptide;voltage-gated sodium channel subunit alpha Nav1.1;voltage-gated sodium channel type I APPROVED protein-coding ENSG00000144285 10585 01669 182389;604403;607208;609634 REVIEWED 1322066 SCML4 sex comb on midleg-like 4 (Drosophila) 6 6 6 q21 108771904 108892338 - 108146342 108200148 - 108023364 108145521 - 6480464 18978678;14702039;12477932 256380 F2Z2X1;Q5T0T5;Q8N228 AB072902;ABBA01026165;ABBA01026166;ABBA01026167;AK074125;AK093571;AK303562;AL096816;AL512490;AL512592;AMYH01016572;AMYH01016573;AMYH01016574;AMYH01016575;BC021582;BC033286;CH471051;CR975586;DC410126;NM_198081 AAH33286;ABZ92125;BAB84951;BAC04198;BAG64585;EAW48393;EAW48394;EAW48395;EAW48396;NP_932347;Q8N228 Hs.486109 1339487;1709978;1762369;5017665 D6S941;SHGC-146199;SHGC-82258;TKY1995 FLJ36252;dJ47M23.1 OTTHUMP00000016934;OTTHUMP00000197438;sex comb on midleg-like protein 4 protein-coding 21397 10212 VALIDATED 1343784 SCML1 sex comb on midleg-like 1 (Drosophila) X X X p22 21874910 21892423 + 17665513 17683026 + 17755592 17773105 + 1580863;6480464 9570953;18601738;15772651;15489334;12477932;19322201;22325352 6322 Q5H966;Q9UN30 ABBA01071576;AF160728;AK313993;AMYH01022119;BC009193;BC026159;BC105028;BI461014;BX647757;CH471074;EU370780;NM_001037535;NM_001037536;NM_001037540;NM_006746;Z93242 AAD47635;AAH26159;AAI05029;ABY68575;ABZ92430;BAG36705;EAW98928;EAW98929;EAW98930;EAW98931;EAW98932;NP_001032624;NP_001032625;NP_001032629;NP_006737;Q9UN30 Hs.109655 1665520;1676610;1676950;2108443;2131111;2154538 RH46283;RH93889;SCML1_8612;SHGC-53909;STS-H53878;STS-R07875 OTTHUMP00000022996;OTTHUMP00000025692;OTTHUMP00000025693;OTTHUMP00000025694;sex comb on midleg-like protein 1 protein-coding ENSG00000047634 10580 02205 300227 VALIDATED 1314031 SCMH1 sex comb on midleg homolog 1 (Drosophila) 1 1 1 p34 39775792 39990782 - 41265461 41480375 - 41492871 41707815 - 1580863;6480464 10524249;18391952;17081983;16713569;16710414;16169070;15489334;14973489;14702039;12477932;12167701;10653359;20546612;19266077;20211142;23207902;22325352;20881960 22955 B3KMZ7;J3KPV8;Q96GD3 AA912153;ABBA01023153;ABBA01023154;ABBA01023155;AF149045;AF149046;AK023124;AK299383;AK301497;AL110502;AL391730;AL606484;AMYH01000541;BC009752;BC021252;BX640721;CH471059;CR457161;NM_001031694;NM_001172218;NM_001172219;NM_001172220;NM_001172221;NM_001172222;NM_012236 AAF01150;AAF01151;AAH09752;AAH21252;ABM83593;ABM86837;BAG51159;BAG61370;BAG63008;CAE45840;CAG33442;EAX07181;EAX07182;EAX07183;EAX07184;EAX07185;NP_001026864;NP_001165689;NP_001165690;NP_001165691;NP_001165692;NP_001165693;NP_036368;Q96GD3 Hs.571874 1334819;1675858;1686620;1694530;1721809;1722523;1798128;1854910;2110913;2123152;2133863;2137298;2144074;2155605;2173801;5019895 AL009711;D1S2722;D1S327E;G27473;G43043;G54630;G59927;G60187;RH79952;RH98352;SCMH1_2142;SHGC-44348;SHGC-74647;SHGC-74648;SHGC-74656;SHGC-74660 Scml3 OTTHUMP00000006330;OTTHUMP00000006331;OTTHUMP00000006332;OTTHUMP00000006333;OTTHUMP00000006334;polycomb protein SCMH1 protein-coding ENSG00000010803 19003 11540 VALIDATED 732165 SCN4A sodium channel, voltage-gated, type IV, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] 17 17 q23.3 59369646 59404010 - 62015914 62050278 - 1580863;6480464;7240710 10218481;1338909;19347921;19211598;19118277;19015483;18726720;18690054;18337730;18281721;18270170;18166706;18079277;18046642;17998485;17898326;17823953;17804458;17334961;17212350;17151947;16890191;16870577;16506889;16392038;16382098;15790667;15596759;15482957;15459238;15318338;15072700;14527681;12766226;12210802;11591859;11558801;10944223;10851391;10599760;10366610;9521881;9392583;9164815;8580427;8575757;8388676;8385647;8308722;8242056;8058156;8044656;2173143;1851726;1659948;1659668;1654742;1339144;1316765;1315496;1310898;22617007;22653516;1310531;1310396;9677412;15746172;21099342;20713951;16637659;19077043;19290024;19773279;19840739;19881885;19882638;20038812;9412493;21043388;20301512;21317558;21606664;21841462;21665479;21521764;23420899;21664816;20301669;15123239;23381896;22250216;22914841 6329 J3QQZ1;P35499 ABBA01035314;ABBA01035315;AC127029;AF038871;AMYH01008552;AY212253;CH471109;L01983;L04216;L04217;L04218;L04219;L04220;L04221;L04222;L04223;L04224;L04225;L04226;L04227;L04228;L04229;L04230;L04231;L04232;L04233;L04234;L04235;L04236;M81758;NG_011699;NM_000334;S82622;U24693 AAA60554;AAA75557;AAB21450;AAB59624;AAC14673;AAG43105;AAI72375;AAO83647;EAW94225;EAW94226;NP_000325;P35499 Hs.46038 1661161;1674518;1741951;1741953;1771030;2149451;5492265 D2S2975;GDB:186996;GDB:186997;RH66541;RH77871;STS-M81758;Scn3a HOKPP2;HYKPP;HYPP;NAC1A;Na(V)1.4;Nav1.4;SkM1 skeletal muscle voltage-dependent sodium channel type IV alpha subunit;sodium channel protein skeletal muscle subunit alpha;sodium channel protein type 4 subunit alpha;sodium channel protein type IV subunit alpha;voltage-gated sodium channel subunit alpha Nav1.4 APPROVED protein-coding ENSG00000007314 10591 04912 168300;170500;603967;608390;613345;614198 REVIEWED 1352337 SCML2 sex comb on midleg-like 2 (Drosophila) This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010] X X X p22 22377536 22492940 - 18167355 18282699 - 18257433 18372844 - 1580863;6480464 21252943;19615732;10331946;18706910;15489334;15302935;14702039;12952983;12477932;19471022;22325352 10389 B4DRC2;H0Y6S1;Q9UQR0 ABBA01071620;ABBA01071621;ABBA01071622;ABBA01071623;ABBA01071624;ABBA01071625;ABBA01071626;ABBA01071627;AK022824;AK299190;AK303064;AK308140;AK315116;AL031007;AL096763;AL833937;AMYH01022121;BC040497;BC051913;BC064617;CH471074;NG_021431;NM_006089;NR_033717;Y18004;Z93023 AAH51913;AAH64617;BAG61234;BAG64181;CAB38943;CAD38792;EAW98937;EAW98938;EAW98939;NP_006080;Q9UQR0 Hs.495774 1665520;1858401;2116400;5022322;5022450 D10S275;D11S2560;G06175;STS-N74417;STS-R07875 OTTHUMP00000023000;sex comb on midleg-like protein 2 APPROVED protein-coding ENSG00000102098 10581 02195 300208 REVIEWED 736601 SCN3A sodium channel, voltage-gated, type III, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q24 165652276 165768823 - 165944030 166060577 - 1580863;6480464 9589372;18784617;17544618;16382098;16344560;16052353;16029190;15317864;12610651;11566500;11245985;11122339;10827173;10718198;8889548;8159690;19699781;20379614;20346423;23016767;15548568;22494998 6328 C9JBM7;E7EUE6;F5H4V8;Q9C007;Q9Y6P4 AB037777;ABBA01004916;ABBA01004917;AC013463;AF035685;AF035686;AF225986;AF225987;AF239921;AF330135;AJ251507;AJ276139;AJ276140;AJ277394;AK299757;AK301853;AL079365;AMYH01011226;BM681920;CH471058;DA772987;DA796981;DQ993537;NM_001081676;NM_001081677;NM_006922;S69887 AAB30530;AAC29514;AAC29515;AAF44690;AAG53414;AAG53415;AAK00218;AAK00219;AAY15072;BAA92594;BAG61646;BAG63295;CAB85895;CAC03582;CAC03583;CAC03586;EAX11331;EAX11332;EAX11333;EAX11334;EAX11335;NP_001075145;NP_001075146;NP_008853;Q9NY46 Hs.435274 1340647;1676758;2121036;2158960;2173948;2217944;5492263 D2S382;G16466;RH17907;RH79252;SCN3A_3454;Scn1a;WI-15259 KIAA1356;NAC3;Nav1.3 OTTHUMP00000041047;OTTHUMP00000041048;OTTHUMP00000204827;brain III voltage-gated sodium channel;sodium channel protein brain III subunit alpha;sodium channel protein type 3 subunit alpha;sodium channel protein type III subunit alpha;sodium channel, voltage-gated, type III, alpha polypeptide;voltage-gated sodium channel subtype III;voltage-gated sodium channel subunit alpha Nav1.3 APPROVED protein-coding ENSG00000153253 10590 01671 182391 REVIEWED 1350483 SCN1B sodium channel, voltage-gated, type I, beta subunit Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] 19 19 q13.1 40213374 40223193 + 35521592 35531353 + 1580863;6480464;6484255;7240710 22581745 9697698;8394762;19522081;19270815;18755274;18464934;18175077;18093548;18052691;17927801;17629415;17604911;16205844;16052353;15489334;14622265;14504340;12677453;12486163;12477932;12011299;11997395;11744748;11470829;8125980;7851891;6319405;14761957;20602612;19710327;19808477;19861310;20137763;20226894;22155597;14500339;21882141;21994374;21040232;17884088;22011963;22292491;20301494;20301690;22284586;23022100 6324 B4DI92;M0QZ85;Q07699 ABBA01018730;ABBA01018731;AC020907;AK295477;AK313279;AMYH01009723;AY391842;BC021266;BC030193;BC067122;BC112922;BF194996;BM805468;BT019923;DQ677665;L10338;L16242;NG_013359;NM_001037;NM_199037;U12193 AAA60391;AAA61277;AAB97608;AAH21266;AAH67122;AAI12923;AAR25552;AAV38726;ABQ01236;BAG36087;BAG58404;NP_001028;NP_950238;Q07699 Hs.436646 1674802;1744167;1852617;2164084;2217942;5092994 A009D43;G32458;GDB:434009;SCN1B_3452;STS-L16242;STS-R56235 GEFSP1 sodium channel beta-1 subunit;sodium channel subunit beta-1 APPROVED protein-coding ENSG00000105711 10586 02581 600235;604233;612838 REVIEWED 1354096 SCN2A sodium channel, voltage-gated, type II, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 q24.3 165804158 165957066 + 166095912 166248820 + 1580863;1358571;6480464;7240710 11823106 1325650;19401682;19270815;19129176;18784617;18479388;17805013;17715289;17641256;17544618;17467289;17386050;16914293;16847056;16464983;16417554;16382098;16344560;16052353;15342556;15316014;15249644;15048894;15028761;12930796;12610651;12477932;12243921;12165424;11738931;11371648;11326335;11245985;11000491;10486327;10344788;8889548;2571571;1846440;1317301;14761957;15681389;20602612;12036953;16169070;16652168;19465131;19694741;19738391;19743470;19783390;19786696;20371507;20379614;20346423;22525008;21762452;21377452;21439835;23016767;23360469;21156207;22495306;20467438;22591750;23550958;22029951;22677033 6326 A8K0U1;Q99250 AB208888;ABBA01004917;AC011303;AC013438;AF059683;AF327228;AF327246;AK289656;AL137498;AMYH01011226;AMYH01011227;BC029489;BC047398;BC048417;BP199510;BP311214;BU729783;CH471058;DA232976;DQ993531;DQ993533;M55662;M91804;M94055;NG_008143;NM_001040142;NM_001040143;NM_021007;X65361 AAA18895;AAB65854;AAC14574;AAG53412;AAG53413;AAY14971;ACX32328;BAD92125;BAF82345;CAA46438;EAX11328;EAX11329;EAX11330;NP_001035232;NP_001035233;NP_066287;Q99250 Hs.93485 1334855;1335926;1336069;1669041;1690778;1696592;1704710;1751589;1775135;1775137;2110717;2138214;2141343;2177009;5492263;5492265 D2S124;D2S2330;D2S399;RH45814;RH47377;RH79255;SCN2A2_3453;SHGC-105580;SHGC-30518;SHGC-3738;SHGC-53406;SHGC-79014;SHGC-82894;Scn1a;Scn3a;WI-18792 BFIC3;BFIS3;BFNIS;EIEE11;HBA;HBSCI;HBSCII;NAC2;Na(v)1.2;Nav1.2;SCN2A1;SCN2A2 HBSC II;OTTHUMP00000041049;OTTHUMP00000041050;sodium channel protein brain II subunit alpha;sodium channel protein type 2 subunit alpha;sodium channel protein type II subunit alpha;sodium channel protein, brain type 2 alpha subunit;sodium channel, voltage-gated, type 2, alpha 1 polypeptide;sodium channel, voltage-gated, type II, alpha 1 polypeptide;sodium channel, voltage-gated, type II, alpha 2 polypeptide;voltage-gated sodium channel subtype II;voltage-gated sodium channel subunit alpha Nav1.2 APPROVED protein-coding ENSG00000136531 10588 03133 182390;607745;613721 REVIEWED 1351349 SCN8A sodium channel, voltage gated, type VIII, alpha subunit This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 12 12 q13 50271287 50488574 + 51985020 52206648 + 1580863;6480464;6484224;7240710 19584134 20600647;22365152;9828131;19352218;19136557;18812204;18718804;17881658;17805013;16775201;16702217;16382098;16014723;15676283;15302875;15282281;10779552;10066808;9295353;7670495;20204400;20632842;20351042;20379614;20421839;20530479;20483028;21156207;14702039;21630263;21562192 6334 F8VRN5;F8VWM7;F8W0Q0;Q9UQD0 AB027567;AB037525;ABBA01031616;AC013421;AC025097;AC068987;AC140060;AF049618;AF050711;AF050712;AF050713;AF050714;AF050715;AF050716;AF050717;AF050718;AF050719;AF050720;AF050721;AF050722;AF050723;AF050724;AF050725;AF050726;AF050727;AF050728;AF050729;AF050730;AF050731;AF050732;AF050733;AF050734;AF050735;AF050736;AF225988;AJ276141;AJ276142;AJ277395;AJ310884;AJ310885;AJ310898;AK091315;AK309213;AMYH01004468;AY510083;AY682081;AY682082;AY682083;BX112779;CH471111;FJ611941;NG_021180;NM_001177984;NM_014191 AAD15789;AAD20439;AAF35390;AAS89692;AAT85830;AAT85831;AAT85832;ACM63162;BAA78033;BAA90445;BAC03635;CAC03584;CAC03585;CAC03587;CAC84527;CAC84528;CAC84538;EAW58197;EAW58198;EAW58199;EAW58200;EAW58201;EAW58202;NP_001171455;NP_055006;Q9UQD0 Hs.436550;Hs.710638 1335913;1651151;1651340;1679810;1693588;1694634;1712432;1712436;1747987;1748219;1774948;1776539;1850274;2113472;2145096;2151341;2217946;7186847 A006S01;D12S1546;D12S1968;D12S2211;D12S347;G43469;G54251;G54253;G64234;G64248;RH11256;RH78513;RH92945;SCN8A_3459;SHGC-31178;SHGC-58494;WI-15800 CIAT;CerIII;EIEE13;FLJ33996;MED;NaCh6;Nav1.6;PN4 OTTHUMP00000241297;OTTHUMP00000241298;hNa6/Scn8a voltage-gated sodium channel;sodium channel protein type 8 subunit alpha;sodium channel protein type VIII subunit alpha;voltage-gated sodium channel subunit alpha Nav1.6 APPROVED protein-coding 10596 09006 600702;614306;614558 REVIEWED 737151 SCN9A sodium channel, voltage-gated, type IX, alpha subunit This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] 2 2 q24 166759941 166876560 - 167051695 167232497 - 1599515;1599517;1580863;6480464;7240710 14985375;16216943 7720699;19304393;18978189;18945915;18803825;18676988;18599537;18518989;18439623;18426592;18347287;18337362;18171466;18079277;18070140;18070139;18060017;18036246;17985268;17950472;17928139;17597096;17470132;17430993;17410110;17404832;17294067;17167479;17135418;17008310;16988069;16392115;16382098;16088330;15958509;15955112;15929046;15385606;15302875;15178348;22348792;9169448;8889548;11283792;10198179;20429905;21115638;20529324;20074229;19557861;19633428;19699781;19763161;19800314;20033988;20038812;20146699;20212137;20379614;20478850;20635406;20628234;22136189;20959280;21094958;21441906;23006801;23232607;20692858;21705421;22911851;21715690;21031562;21232038;22286749;21698661;21939494;23129781;22539570;20301342;20301494;22033523;21984269;22875917;23280954;23364568;23536180;23596073;23383113;23450472;23102778;23149731;23259602 6335 E9PBA5;E9PF08;H7C064;Q8WWN4 ABBA01004929;AC074101;AC107082;AC108146;AJ277393;AJ310882;AJ310883;AJ310897;AJ580918;AJ580919;AK307549;AL517958;AMYH01011229;AMYH01011230;AMYH01011231;AMYH01011232;AY682084;AY682085;AY682086;BU742924;CH471058;DQ148960;DQ857292;NG_012798;NM_002977;X82835 AAT85833;AAT85834;AAT85835;AAY14794;AAZ77737;ABI51981;CAA58042;CAC84537;CAC84550;CAC84551;CAE45644;CAE45645;EAX11314;EAX11315;EAX11316;NP_002968;Q15858 Hs.439145 1336069;1340229;1340813;1665480;1755691;1763707;1765097;2110721;2111378;2113902;2143879;5492265 D11S4681;D2S1510E;D2S1776;D2S2330;D2S2370;HSC0CD092;SCN9A;SCN9A_3460;SHGC-142531;SHGC-147379;SHGC-148625;Scn3a ETHA;FEB3B;GEFSP7;NE-NA;NENA;Nav1.7;PN1;SFNP OTTHUMP00000204933;OTTHUMP00000204936;hNE-Na;neuroendocrine sodium channel;peripheral sodium channel 1;sodium channel protein type 9 subunit alpha;sodium channel protein type IX subunit alpha;sodium channel, voltage-gated, type IX, alpha polypeptide;voltage-gated sodium channel alpha subunit Nav1.7;voltage-gated sodium channel subunit alpha Nav1.7 APPROVED protein-coding ENSG00000169432 10597 04565 133020;167400;243000;603415;607208;613863 REVIEWED 736397 SCN2B sodium channel, voltage-gated, type II, beta subunit 11 11 11 q23 115191374 115205190 - 117538729 117552546 - 118033519 118047337 - 1580863;6480464;6484586 12206256 9295116;16344560;15833746;15489334;14702039;12975309;12477932;10198179;9887383;8521473;7566098;6319405;19808477;20226894;20379614 6327 O60939;Q5U0K8 ABBA01039715;AF007783;AF049497;AF049498;AF107028;AK090729;AK094643;AK308834;AK313891;AMYH01004067;AP002800;AY358945;BC036793;BQ574152;BT019487;CH471065;DA290917;NM_004588;U87555 AAC05208;AAC05274;AAC26013;AAD47196;AAF21472;AAH36793;AAQ89304;AAV38294;ABM83352;ABM83560;ABM86566;BAG36614;EAW67353;NP_004579;O60939 Hs.129783 1774407;1779286;2107563;2126097;2134505 D11S4701;HSC0CC032;SCN2B_7255;SHGC-153284;WI-20536 OTTHUMP00000045939;neuronal voltage-gated sodium channel beta 2 subunit;sodium channel beta 2 subunit;sodium channel subunit beta-2;sodium channel, voltage-gated, type II, beta polypeptide APPROVED protein-coding ENSG00000149575 10589 03208 601327 VALIDATED 1601888 SCN7A sodium channel, voltage-gated, type VII, alpha subunit This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] 2 2 q21-q23 166969785 167051724 - 167260083 167343481 - 6480464 1846440;1317577;18029348;17339538;14669210;12477932;11144347;10198179;8889548;8188276;7874451;19451621 6332 C9JII9;C9JW43;F8WD82;Q01118 ABBA01004929;ABBA01004930;AC074101;AC092583;AK308450;AMYH01011232;BC062699;BC141864;CF129950;CH471058;CK903677;M91556;NG_031928;NM_002976;NR_045628;S75992 AAA59899;AAD14203;EAX11312;EAX11313;NP_002967;Q01118 Hs.596087;Hs.644853 1646506;1703522;1721763;1767741 A007J23;G59750;SHGC-82665;WI-9171 NaG;Nav2.1;Nav2.2;SCN6A OTTHUMP00000205008;putative voltage-gated sodium channel subunit alpha Nax;sodium channel protein cardiac and skeletal muscle subunit alpha;sodium channel protein type 7 subunit alpha;sodium channel protein type VII subunit alpha;sodium channel, voltage-gated, type VI, alpha polypeptide;sodium channel, voltage-gated, type VII, alpha polypeptide;voltage-dependent sodium channel alpha subunit APPROVED protein-coding ENSG00000136546 10594 08355 182392 REVIEWED 1350710 SCN3B sodium channel, voltage-gated, type III, beta subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 11 11 q23.3 123005105 123030525 - 123499895 123525315 - 633985;1580863;6480464;7240710 10688874 11256614;19385982;16415175;16381901;16344560;15489336;15489334;15342556;15334053;15232296;14702039;12477932;12220575;11470829;11230166;11212211;11076863;10574461;19596049;19808477;20042427;20226894;20558140;21051419;20675377;20301690;23118027 55800 E9PJP6;E9PQS8;Q9NY72 AB032984;ABBA01031269;AJ243396;AK055033;AK314513;AL136589;AMYH01004101;AP002765;BC045704;BC117282;BC126265;BP202832;BX106794;CH471065;DA327760;DA806480;DQ677666;NG_016283;NM_001040151;NM_018400 AAI17283;AAI26266;ABQ01237;ADR82877;BAA86472;BAG37113;CAB66524;CAB76825;CAL38175;EAW67550;EAW67551;EAW67552;NP_001035241;NP_060870;Q9NY72 Hs.4865 1650862;1696722;1792716;1850043;2136033;2141433;2185637;5014063;5109281 A006Q45;A006R46;D15S1390;D1S1425;PMC15797P2;RH12768;SHGC-77877;STS-Z41028;T03530 HSA243396;SCNB3 OTTHUMP00000231688;OTTHUMP00000231689;sodium channel subunit beta-3;voltage-gated sodium channel beta-3 subunit APPROVED protein-coding ENSG00000166257 20665 10497 608214;613120 REVIEWED 731255 SCN5A sodium channel, voltage-gated, type V, alpha subunit The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 3 3 p21 38564557 38666167 - 38589553 38691164 - 735235;1358572;1580008;1580502;1580863;6480464;6484225;6484224;7240710;7240708 11786529;12208804;12574143;15840476;19471098;19584134;23091085 15504354;15466643;15367556;15338453;15316014;15306732;15277732;15217910;15176425;15161528;15057319;15051636;14985827;14961552;14760488;14720472;14654377;14523039;14500339;12820704;12673799;12639704;12574983;12569159;12522116;12477932;12471205;12454206;12431447;12429735;12358675;12193783;12106943;12051963;11997281;11960580;11901046;11889015;11823453;11804990;11748104;11743032;11710892;11410597;11289718;11234013;11136691;10973849;10940383;10911008;10690282;17060380;7651517;7889574;9521325;19412328;19389651;19376164;19324308;19322600;19305639;19305409;19305408;19302788;19251209;19171938;19167345;19149796;19121811;19083750;19075524;19074138;19056759;19027780;19026623;18977767;18929331;18929244;18848812;18803136;18752142;18708744;18690024;18676988;18674739;18657562;18596570;18591664;18503232;18456723;18452875;18452871;18451998;18436145;18426444;18408010;18393272;18378609;18368697;18362431;18355654;18252757;18245395;18184654;18156160;18088563;18071069;18065446;18048769;18040022;17967977;17928536;17905336;17901361;17897635;17854786;17697823;17675083;17605181;17556197;17548620;17544529;17534376;17510181;17496023;17363383;17331104;17275752;17227473;17210841;17210839;17205354;17198989;17185997;17161064;17141278;17075016;17070808;16980337;16930557;16880338;16877553;16873405;16864729;16857961;16847056;16818214;16771953;16731473;16728661;16674915;16643374;16637659;16632547;16616735;16505387;16469732;16453024;16426410;16415376;16414944;16382098;16344400;16325048;16301357;16266370;16254012;16207794;16188595;16132053;16115203;16061851;16061744;16054936;15996170;15910881;15863661;15851320;15851227;15851119;15828879;15808832;15805167;15746172;15671429;15665061;15579534;15534720;10627139;10618304;10590249;10532948;10508990;10471492;10377081;10200053;9686753;9506831;9412493;8917568;8621719;8567977;8541846;7956363;7842012;1309946;22277643;22514276;20372843;20395683;20174578;19913121;20384651;20586826;20628086;21109022;15548568;16169070;18616619;19255801;19272188;19279232;19318916;19340536;19345130;19377070;19549036;19551538;19632628;19661462;19666841;19698999;19706159;19716085;19719504;19745168;19808398;19808432;19808664;19822451;19841300;19843919;19843921;19861310;19948241;20004937;20009079;20031634;20038812;20062060;20062063;20102920;20108749;20110800;20116193;20147455;20201937;20339117;20379614;20386770;20400777;20403459;20470418;21076026;21126620;20875080;20920651;21048329;21063070;21070882;21167176;20539757;20651255;20609320;20618077;20090423;20025708;19845816;20724705;22064211;22426227;19224165;21076409;20301690;22876298;21170089;21454796;21321465;20219395;21164104;21167004;21347284;20129283;21185499;22633666;22682427;22739120;22802584;21325150;21498565;21596231;21393430;21552533;21824921;21385947;21859973;19406494;19419784;12401812;23277474;23308164;22999724;20812931;21705349;11807557;22028457;22090166;21609529;21273195;21397042;22460359;21840964;23008441;15174051;22461438;22882672;21139048;21906983;22067152;22092558;22101522;21288276;17592081;19808477;20301308;20301486;21937582;21996251;22117993;22331908;22400069;22722661;22766342;22842345;22795782;22952230;23503384;22486578;22826127;23571586;22710484;23656992;23424222;23133651;23283979;23123192;23139255;23376825;23463857;22560601;22370247;22562703;22899775;23359282;22685113 6331 A3EY21;E7ET19;E9PG18;E9PHB6;H9KVD2;K4DIA1;Q59H93;Q86V90 AB158469;AB158470;AB208866;ABBA01024818;ABBA01024819;AF482988;AJ310886;AJ310887;AJ310888;AJ310889;AJ310890;AJ310891;AJ310892;AJ310893;AJ310894;AJ310895;AJ310896;AMYH01013093;AMYH01013094;AP006241;AY038064;AY148488;BC051374;BC140813;BC144621;BU845010;CH471055;DQ086162;DQ784809;EF092293;EF092294;EF092295;EF179185;EF629346;EF629347;M77235;NG_008934;NM_000335;NM_001099404;NM_001099405;NM_001160160;NM_001160161;NM_198056 AAA58644;AAH51374;AAI40814;AAI44622;AAK74065;AAN61120;AAO91669;AAZ06802;ABN05288;ABN50062;ABN50063;ABN50064;ABQ01244;ABR15763;ABR15764;ACX32327;BAD12084;BAD12085;BAD92103;CAC84525;CAC84529;CAC84530;CAC84531;CAC84532;CAC84533;CAC84534;CAC84535;CAC84536;EAW64540;EAW64541;EAW64542;NP_000326;NP_001092874;NP_001092875;NP_001153632;NP_001153633;NP_932173;Q14524 Hs.517898 1740221;1744735;1745573;1745585;1745587;1761233;1762541;1764951;2110719;2145013;5492265;7186368 D3S1641;D3S4190;GDB:555574;GDB:624525;GDB:624564;GDB:624573;SCN5A_3457;SHGC-145242;SHGC-146356;SHGC-148512;Scn3a CDCD2;CMD1E;CMPD2;HB1;HB2;HBBD;HH1;ICCD;IVF;LQT3;Nav1.5;PFHB1;SSS1;VF1 OTTHUMP00000209279;OTTHUMP00000209280;OTTHUMP00000209281;OTTHUMP00000209282;OTTHUMP00000209283;OTTHUMP00000209284;OTTHUMP00000226268;cardiac sodium channel alpha subunit;cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit;sodium channel protein cardiac muscle subunit alpha;sodium channel protein type 5 subunit alpha;sodium channel protein type V alpha subunit;sodium channel protein type V subunit alpha;voltage-gated sodium channel subunit alpha Nav1.5 APPROVED protein-coding ENSG00000183873 10593 02543 113900;272120;600163;601144;601154;603829;603830;608567;614022 REVIEWED 735494 SCN4B sodium channel, voltage-gated, type IV, beta subunit The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009] 11 11 11 q23.3 115161938 115181485 - 117509302 117528747 - 118004092 118023630 - 1580863;6480464;7240710 12930796;18941776;17592081;16344560;15489334;14702039;12477932;1293796;21115638;19808477;20226894;21051419;20301308;22842345 6330 B0YJ93;Q8IWT1 ABBA01039715;AK090713;AK092285;AK124886;AK314531;AMYH01004067;AP002800;AY149967;BC035017;BX538328;CH471065;DA109496;DA111034;DA211092;DA247019;DB101246;DB237478;EF445029;NG_011710;NM_001142348;NM_001142349;NM_174934;NR_024527 AAH35017;AAN74584;ACA06071;BAG37123;EAW67351;EAW67352;NP_001135820;NP_001135821;NP_777594;Q8IWT1 Hs.65239 1651697;1683735;2107565 RH98735;SCN4B_3456.2;WI-19664 LQT10;Navbeta4 OTTHUMP00000234705;OTTHUMP00000234706;sodium channel beta-4 subunit;sodium channel subunit beta-4 APPROVED protein-coding ENSG00000177098 10592 09749 608256;611819 REVIEWED 734263 SCNN1B sodium channel, non-voltage-gated 1, beta subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009] 16 16 p12.2-p12.1 23221092 23300121 + 23313591 23392620 + 737753;1624136;1624161;1624117;1580863;6480464;6907045;7240710 10589691;7954808;15075188;8589714 17560176;17510235;17460608;17434346;17381423;17241874;16943574;16579800;16463024;16432044;16423824;15853823;15661075;15596218;15489334;15483078;15328345;15327619;15198480;15188166;14761957;14553964;12714866;12562778;12477932;12473861;12204893;12180079;12167593;12107247;11997395;11934701;11906720;11863256;11845306;11826291;11567041;11470829;11375929;11359767;11181995;10845103;10642508;10506918;10493829;10404817;10212229;17586416;9118951;11244092;19462466;19017867;18990692;18665318;18639284;18507830;18443236;18398334;18184758;18004211;17766193;9813171;9794716;9674649;9626162;9169421;8986818;8601645;8524790;8521520;7762608;7550319;7499195;7490094;18322022;14996668;21307123;19913121;20628086;14645214;17502380;19300301;19344079;19359370;19520916;19763606;19948975;20106988;20424473;20519934;23060445;22940131;21525970;16574660;21700000;21107496;21654856;19953087;20237237;21562341;22374202;22207244;11323714;12876068;16416336;19380724;21956615;11802777;16844684;18701608;22250980;15814530;22809657;22526458;22895453 6338 B2R812;H3BQ95;H3BRM4;H3BUQ8;P51168 ABBA01017818;ABBA01017819;ABBA01017820;ABBA01017821;AC008915;AC130452;AF260226;AF260228;AJ005383;AJ005384;AJ005385;AJ005386;AJ005387;AJ005388;AJ005389;AJ005390;AJ005391;AJ005392;AJ005393;AK313192;AMYH01007381;AU105979;BC036352;CH471145;DQ402523;FJ515831;L36593;NG_011908;NM_000336;U16023;X87159 AAA67036;AAA75459;AAH36352;AAK49394;AAL48196;AAL48197;ABD72219;ACE86622;ACE87303;ACS13724;ADR82661;BAG36009;CAA06508;CAA60632;EAW55833;EAW55834;NP_000327;P51168 Hs.414614 1338541;1738619;2148858;2165843;2217948 D16S2760;D16S3130;RH79175;SCNN1B_3463;STS-X87159 BESC1;ENaCb;ENaCbeta;SCNEB OTTHUMP00000162368;amiloride-sensitive sodium channel subunit beta;amiloride-sensitive sodium channel subunit beta 1;beta-ENaC;beta-NaCH;epithelial Na(+) channel subunit beta;epithelial sodium channel beta-2 subunit;epithelial sodium channel beta-3 subunit;nasal epithelial sodium channel beta subunit;nonvoltage-gated sodium channel 1 subunit beta;sodium channel, nonvoltage-gated 1, beta APPROVED protein-coding ENSG00000168447 10600 02861 177200;211400;264350;600760 REVIEWED 1319050 SCNM1 sodium channel modifier 1 SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009] 1 1 1 q21.3 124253808 124256905 + 149405141 149408238 + 151138498 151142773 + 1580863;6480464 16710414;16189514;15489334;14702039;12920299;12477932;7566098;18482256;17656373;23382074 79005 Q9BWG6 AA374943;ABBA01049379;ABBA01049380;AI791817;AK056322;AK301644;AL592424;AMYH01001386;AV718162;BC000264;BF669691;BU540926;CD103880;CH471121;NM_001204856;NM_024041;NR_037937 AAH00264;ABM83457;ABM86668;BAB71149;BAG63123;EAW53466;NP_001191785;NP_076946;Q9BWG6 Hs.732060 5015547;5015619;5015861;5022200;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;L18426;WIAF-1603 MGC3180 OTTHUMP00000014151;OTTHUMP00000014262;sodium channel modifier 1 APPROVED protein-coding ENSG00000163156 23136 12162 608095 VALIDATED 1349372 SCOCP1 short coiled-coil protein pseudogene 1 14 14 40675512 40677978 + 60625677 60628143 + 317767 ABBA01018278;AL163853;AMYH01005766;NG_011824 2164822 G36315 pseudo 20339 INFERRED 736324 SCNN1A sodium channel, non-voltage-gated 1 alpha subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009] 12 12 p13 6326274 6354976 - 6456009 6486523 - 1624161;1624117;1580863;5509791;5509790;6480464;6907045;7240710 15075188;8589714;21314941;15734793 20663296;11244092;19619703;19559392;19541605;19527514;19479237;19462466;19359370;19263529;19238444;19131662;19019335;19017867;18990692;18818748;18801933;18703878;18665318;18660489;18634878;18547339;18513389;18355814;17905853;17766193;17596527;17537777;17460608;17434346;17381423;17170520;17020471;16912051;16463024;16423824;16373340;16344560;16172422;15853823;15755725;15746174;15596218;15498559;15489334;15328345;15308680;15169674;15069064;14556380;12923071;12562778;12477932;12167593;12107247;12082592;11756432;11752024;11696533;11675945;11359767;11266509;10642508;10586178;10447117;10409621;10404817;10212229;9654208;9612219;9575806;9169421;8986818;8889548;8278374;8023962;7896277;18632802;18322022;14996668;19913121;20536507;20577119;20628086;17502380;18298571;19300301;19423540;19561078;19617352;19619128;19720813;19763606;19773279;19858199;19864429;19925887;19948975;20054153;20078945;20098615;20106988;20406964;20424473;20438785;20484876;23416952;20709758;21048031;20194130;21664233;22127840;22318606;20097829;20519934;20079059;21307123;9351815;21653223;22987920;21084303;21667229;16574660;21478478;21768316;21906983;20675381;21562341;21889619;21893217;22729284;15677482;22374202;12876068;16416336;18981174;22207244;21917531;22573385;23297398;11802777;16844684;18701608;22250980;23460285;23523754;22406554;22776878;22526458;22613977 6337 C5HTZ1;E7EVF3;F5GXE6;F5H5F8;J3KPV6;P37088 ABBA01017639;ABBA01017640;ABBA01017641;ABBA01017642;AC005840;AC006057;AF060913;AK025536;AK172792;AK304379;AMYH01004202;AY365119;BC006526;BC037417;BC062613;BU680600;CH471116;DB232484;DQ402522;FJ515830;L29007;NG_011945;NM_001038;NM_001159575;NM_001159576;U81961;X76180;Z92978 AAA21813;AAC31773;AAC31774;AAD28355;AAH06526;AAH62613;AAQ67341;ABD72218;ACS13719;ACS13720;ACS13721;ACS13722;BAG65217;CAA53773;CAB07505;EAW88803;EAW88804;NP_001029;NP_001153047;NP_001153048;P37088 Hs.591047 1677814;2110723;2172612 RH80869;SCNN1A_3462;STS-X76180 BESC2;ENaCa;ENaCalpha;FLJ21883;SCNEA;SCNN1 OTTHUMP00000238446;OTTHUMP00000238447;OTTHUMP00000238448;OTTHUMP00000238449;OTTHUMP00000238451;alpha ENaC-2;alpha-ENaC;alpha-NaCH;amiloride-sensitive epithelial sodium channel alpha subunit;amiloride-sensitive sodium channel subunit alpha;amiloride-sensitive sodium channel subunit alpha 2;epithelial Na(+) channel subunit alpha;nasal epithelial sodium channel alpha subunit;nonvoltage-gated sodium channel 1 subunit alpha;sodium channel, nonvoltage-gated 1 alpha APPROVED protein-coding ENSG00000111319 10599 02575 264350;600228;613021 REVIEWED 732847 SCNN1G sodium channel, non-voltage-gated 1, gamma subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009] 16 16 p12 23101541 23135701 + 23194040 23228200 + 737754;1624147;1580863;6480464;6907045;7240710 7550319;8640238 20376790;11244092;8521520;19462466;19073825;19017867;18990692;18981180;18665318;18443236;17998393;17766193;17698725;17560176;17510235;17460608;17434346;17381423;17241874;17199078;16716084;16630545;16463024;16423824;16172412;15864129;15702377;15661075;15596218;15489334;15328345;15198480;15188166;14996668;18507830;12548396;12477932;12473862;12167593;12107247;11906720;11845306;11805112;11463765;11180614;10727408;10642508;10404817;10391210;9351815;9169421;8986818;8824247;7762608;7499195;7490094;18498246;18632802;18322022;11802777;16844684;18701608;20953144;19913121;20628086;10212229;10409621;11359767;12562778;14645214;17502380;19300301;19359370;19561078;19763606;19779464;19948975;20106988;20519934;22864553;21307123;16574660;17013377;21478478;21667229;22006290;21562341;22167092;15677482;22374202;22207244;12876068;16416336;23060445;22526458;23136006 6340 A5X2V1;Q96TD2 ABBA01017824;AC099482;AF356502;AMYH01007381;BC059391;BC069652;CH471145;DQ402524;FJ515832;L36592;NG_011909;NM_001039;U35630;U48936;U48937;U53836;U53837;U53839;U53841;U53844;U53845;U53846;U53847;U53848;U53849;U53850;U53852;U53853;X87160 AAA75460;AAC50217;AAC50737;AAC50744;AAC50745;AAC50747;AAC50749;AAC50752;AAC50753;AAC50754;AAC50755;AAC50756;AAC50757;AAC50758;AAC50760;AAC50761;AAH59391;AAH69652;AAK50910;ABD72220;ACS13725;CAA60633;EAW55837;EAW55838;NP_001030;P51170 Hs.371727 1768525;2124831 SHGC-61004;SHGC-61048 BESC3;ENaCg;ENaCgamma;PHA1;SCNEG ENaC gamma subunit;OTTHUMP00000162369;amiloride-sensitive epithelial sodium channel gamma subunit;amiloride-sensitive sodium channel gamma-subunit;amiloride-sensitive sodium channel subunit gamma;epithelial Na(+) channel subunit gamma;gamma-ENaC;gamma-NaCH;nonvoltage-gated sodium channel 1 subunit gamma;sodium channel, nonvoltage-gated 1, gamma APPROVED protein-coding ENSG00000166828 10602 02862 177200;264350;600761;613071 REVIEWED 1346343 SCNN1D sodium channel, non-voltage-gated 1, delta subunit 1 1 p36.3-p36.2 1207439 1217272 + 1215816 1227409 + 1580863;6480464 7499195;18951889;18073141;17472699;16930535;16710414;16423824;15489334;15308635;15084585;14726523;14702039;14645214;12477932;8661065;19520916;21419751;21562313;19913121;20628086;18298571;19359370;19717556;20631247;8889548;21307123;21741370;22159085;22505667 6339 A6NNF7;C9JDY8;F8VWH5;H0Y3F1;P51172 AA617657;AA622685;ABBA01016028;ABBA01016029;AK093239;AK093372;AK127357;AK131558;AK315288;AL162741;AMYH01000122;AMYH01000123;AMYH01000124;BC036752;BC040882;BC125074;BC125075;BU729671;BX424308;CH471183;DQ898175;DQ898176;EU489064;NM_001130413;NR_037668;U38254 AAC50283;AAH36752;AAI25075;AAI25076;ABI64068;ABI64069;ACA51868;BAC04105;BAD18692;BAG52699;BAG54495;EAW56251;EAW56252;EAW56253;EAW56254;NP_001123885;P51172 Hs.512681 2178209 SHGC-74130 ENaCd;ENaCdelta;MGC149710;MGC149711;SCNED;dNaCh OTTHUMP00000002083;OTTHUMP00000002084;OTTHUMP00000242838;amiloride-sensitive sodium channel subunit delta;delta-ENaC;delta-NaCH;epithelial Na(+) channel subunit delta;nonvoltage-gated sodium channel 1 subunit delta;sodium channel, nonvoltage-gated 1, delta;sodium channel, voltage-gated, type I, delta polypeptide APPROVED protein-coding ENSG00000162572 10601 03209 601328 VALIDATED 1347479 SCO2 SCO2 cytochrome c oxidase assembly protein Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX asembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy. [provided by RefSeq, Dec 2009] 22 22 q13.33 49308863 49310900 - 50961997 50964868 - 1580020;1580863;6480464;7240710 10749987 22120717;21145461;21833088;10545952;19353431;19336478;18924171;18332255;18254779;17850752;17189203;16728594;16091356;16083427;15489334;15461802;15229189;15146197;14994243;12538779;12529303;12477932;12020273;11931660;11751685;11673586;10218584;19913121;20628086;16341674;20193760;20139978;19879173;10493829;20864674;21832049;22939629;21820150;21139048;21890473;23455922;23643385;21150319;21963094;23222517;21925769;23319048 9997 C9JBU1;O43819 ABBA01042625;AF177385;AL021683;AMYH01012916;BC102024;BC102025;BG392981;BM787182;BQ878572;CN409692;CR456569;NG_016235;NG_021419;NM_001169109;NM_001169110;NM_001169111;NM_005138;U62317 AAB03344;AAF05313;AAI02025;AAI02026;CAA16671;CAG30455;CAK54599;CAK54898;NP_001162580;NP_001162581;NP_001162582;NP_005129;O43819 Hs.180903;Hs.730607 1298301;1681911;1777806;2155787;2219676 D22S685;RH92958;SCO2__5555;UniSTS:50701;WI-11276 CEMCOX1;MGC125823;MGC125825;MYP6;SCO1L OTTHUMP00000196772;OTTHUMP00000196773;OTTHUMP00000196774;OTTHUMP00000196775;SCO cytochrome oxidase deficient homolog 2;cytochrome oxidase deficient homolog 2;protein SCO2 homolog, mitochondrial APPROVED protein-coding ENSG00000130489 10604 05042 604272;604377;608908 REVIEWED 1344696 SCO1 SCO1 cytochrome c oxidase assembly protein Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008] 17 17 p13.1 10524379 10541562 - 10583649 10600885 - 1599513;1580863;6480464 11013136 2835635;9878253;19336478;19295170;18458339;17189203;16735468;16520371;16344560;16091356;15659396;15489334;15229189;12477932;11579424;11027508;10545952;10218584;9110174;8889548;8619474;2543907;19913121;20628086;19465909;20877624;20864674;21139048;21890473 6341 J3QL56;J3QR42;K7EMB5;O75880 ABBA01054979;AC002347;AF026852;AF131816;AF183424;AF295386;AK074588;AK098826;AK315595;AMYH01008107;BC015504;BM981070;BM994602;CH471108;DA571370;NG_008228;NM_004589 AAD08641;AAD20051;AAG09693;AAG23836;AAH15504;ABM82531;ABM85724;BAG37967;BAG51973;EAW89997;NP_004580;O75880 Hs.14511 1655474;1655476;2108445;2125814;2141542;5123937 A006I06;G20832;HSC2RC052;RH78578;SCO1_8613;WI-14254 SCOD1 OTTHUMP00000160897;OTTHUMP00000160898;SCO cytochrome oxidase deficient homolog 1;protein SCO1 homolog, mitochondrial APPROVED protein-coding ENSG00000133028 10603 04705 603644 REVIEWED 1323537 SCOC short coiled-coil protein This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 4 4 4 q31.1 138508468 138633708 + 141397890 141523154 + 141178440 141303710 + 6480464 16344560;15146197;14702039;12477932;11303027;22558309;16484223;20379614;17207965;22354037;21139048 60592 H0Y9P5;Q9BZB2 AA213765;AB015335;ABBA01069976;ABBA01069977;ABBA01069978;ABBA01069979;ABBA01069980;AC093671;AC114771;AF330205;AF448857;AK027797;AK092794;AL133580;AMYH01014571;BC016511;BC062684;BG151522;BU070009;CH471056;CN367654;DA625782;DA695503;DB204055;DB465370;NM_001153446;NM_001153484;NM_001153552;NM_001153585;NM_001153635;NM_001153663;NM_001153690;NM_032547 AAH16511;AAH62684;AAK01707;AAP97732;ADQ32078;BAA88116;BAB55375;EAX05102;EAX05103;EAX05104;NP_001146918;NP_001146956;NP_001147024;NP_001147057;NP_001147107;NP_001147135;NP_001147162;NP_115936;Q9UIL1 Hs.480815 1648896;1675860;1678825;1686612;1749445;1763459;5022578 D1S1423;D4S2342;RH36024;RH80049;SHGC-111177;SHGC-147167;SHGC-67341 HRIHFB2072;SCOCO OTTHUMP00000164612;OTTHUMP00000164613;OTTHUMP00000164614;OTTHUMP00000220121;OTTHUMP00000220123;OTTHUMP00000220124;OTTHUMP00000220125;short coiled coil protein;short coiled-coil protein APPROVED protein-coding ENSG00000153130 20335 18027 REVIEWED 68543 SCRG1 stimulator of chondrogenesis 1 Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. [provided by RefSeq, Jul 2008] 4 4 4 q34.1 171634399 171645725 - 174545874 174557192 - 174309299 174320617 - 6480464 9660755;16199891;16188469;15340161;12975309;12477932;9516475 11341 D6RD99;O75711;Q6FGG5 ABBA01070376;AC093849;AC097534;AJ224677;AK312146;AMYH01014716;AX002933;AX002935;AY359040;BC017583;BC067829;CH471056;CR542142;NM_007281 AAI52792;AAQ89399;BAG35081;CAA12059;CAG46939;EAX04752;EAX04753;EAX04754;NP_009212;O75711 Hs.7122 1338310;1339077;1648856;1722739;2124019;2135831;5123772 D4S1595;D4S2992;D4S3309;G60307;HSC0SE072;SHGC-59598;SHGC-59607 MGC26468;SCRG-1 OTTHUMP00000219946;scrapie responsive gene 1;scrapie responsive protein 1;scrapie-responsive gene 1 protein;scrapie-responsive protein 1 APPROVED protein-coding ENSG00000164106 17036 11932 603163 PROVISIONAL 1318122 SCP2D1 SCP2 sterol-binding domain containing 1 20 20 20 p11.23 18868645 18869311 + 18742370 18743036 + 18794370 18795036 + 15489334;12477932;11780052;16501878 140856 Q6X959;Q9UJQ7 ABBA01054056;AF418568;AF418570;AK130970;AL035563;AMYH01011745;AY248902;BC105121;BC112024;CH471133;HC006832;NM_178483 AAI05122;AAI12025;AAP20053;AAP97287;AAP97289;CBH19222;EAX10224;NP_848578;Q9UJQ7 Hs.112794 1697104;5493213 RH102036;UniSTS:485336 C20orf79;HSD22;MGC138229;dJ1068E13.2 OTTHUMP00000030367;SCP2 sterol-binding domain-containing protein 1;hypothetical protein LOC140856;sterol carrier protein 2-like protein;uncharacterized protein C20orf79 APPROVED protein-coding ENSG00000132631 16211 12785 VALIDATED 733061 SCP2 sterol carrier protein 2 This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010] 1 1 p32 53165536 53289870 + 53392901 53517289 + 1580863;6480464;6907045;7240710 15182174;1703300;19020914;18465878;17418802;15489334;15449949;14661971;14563822;12641450;12477932;12356316;11591437;10856712;10706581;10623549;10585412;10567245;10529196;10412765;10407148;10341103;9048555;8640304;8300590;8243660;8063752;8004106;7788802;7698762;7654720;2294101;1755959;1718316;1483685;19913121;20628086;20677014;19598235;20656919;16756494;17207965;18029348;20877624;21375735;20178365;22939629;1347505;19584060;23000965;21078624;21139048;21890473;21906983;19322201;22505724 6342 B2R761;E9PLD1;H0YCB0;H0YD06;H0YEU8;H0YF61;Q15432;Q59HG9 AA664009;AB208789;ABBA01074746;ABBA01074747;ABBA01074748;ABBA01074749;ABBA01074750;AC099677;AK294631;AK295214;AK303400;AK308105;AK312856;AL445183;AMYH01000624;AMYH01000625;BC005911;BC067108;BG028932;BG432929;BX537618;BX537619;CA867670;CH471059;DB459183;DC330171;M55421;M75883;M75884;NG_012211;NM_001007098;NM_001007099;NM_001007100;NM_001007250;NM_001193599;NM_001193600;NM_001193617;NM_002979;S52450;U11313 AAA03557;AAA03558;AAA03559;AAB24921;AAB41286;AAH05911;AAH67108;ADQ32600;BAD92026;BAG35708;BAG57810;BAG58208;BAG64455;EAX06760;EAX06761;EAX06762;NP_001007099;NP_001007100;NP_001007101;NP_001007251;NP_001180528;NP_001180529;NP_001180546;NP_002970;P22307 Hs.476365 1678779;1684744;1711444;2146697;2158484;2171691 G17313;RH40056;RH79910;S52450;SCP2;SHGC-74838 DKFZp686C12188;DKFZp686D11188;NLTP;NSL-TP;SCP-2;SCP-CHI;SCP-X;SCPX OTTHUMP00000010488;OTTHUMP00000231766;OTTHUMP00000231767;OTTHUMP00000231768;OTTHUMP00000231769;OTTHUMP00000231770;OTTHUMP00000231772;OTTHUMP00000231773;OTTHUMP00000231774;OTTHUMP00000231776;OTTHUMP00000234662;SCP-2;SCP-X;SCP-chi;non-specific lipid-transfer protein;nonspecific lipid-transfer protein;propanoyl-CoA C-acyltransferase;sterol carrier protein X APPROVED protein-coding ENSG00000116171 10606 01700 184755;613724 REVIEWED 1348701 SCRT2 scratch homolog 2, zinc finger protein (Drosophila) 20 20 20 p13 737069 751655 - 590240 604823 - 642240 656823 - 1580863;6480464 11780052;11274425 85508 Q9NQ03 ABBA01053753;ABBA01053754;ABBA01053755;ABBA01053756;AL121758;AMYH01011658;AMYH01011659;AY129025;CH471133;NM_033129 AAI72245;AAM98768;EAX10660;EAX10661;NP_149120;Q9NQ03 Hs.355284 1335293;1337700;1683581;1693412;1711130;1723045;1751863;1776461 AL034529;D20S105;D20S117;G60473;SHGC-105848;SHGC-3386;SHGC-86223;Z94655 FLJ43353;ZNF898B OTTHUMP00000161402;scratch 2 protein;scratch homolog 2 zinc finger protein;transcriptional repressor scratch 2 protein-coding ENSG00000215397 15952 15305 VALIDATED 735506 SCT secretin Secretin belongs to the glucagon family. This protein is an endocrine hormone and its major site of production is the endocrine S cells located in the proximal small intestinal mucosa. The release of active secretin is stimulated by either fatty acids or an acidic pH in the duodenum. This hormone stimulates the secretion of bicarbonate-rich pancreatic fluids and has also been shown to regulate the growth and development of the stomach, small intestine, and pancreas. Secretin deficiency has been implicated in autistic syndrome, suggesting that the hormone could have a neuroendocrine function in addition to its role in digestion. [provided by RefSeq, Jul 2008] 11 11 p15.5 616313 617173 - 626313 627173 - 729921;1580863;6480464;7240710 2315322 11060443;18566919;18280672;16888198;16888194;15706223;15610158;15118068;12160732;12133828;11814635;11278902;10807420;10764961;10576771;9440501;8579602;7782300;18577758;18240029;19239625;19372104;19904746;20398908;12036966;23064014;21851058;21597914;19850743;23233532;22964305 6343 P09683 ABBA01015197;AF244355;AMYH01003289;AP006284;CH471158;NM_021920 AAG31443;AAI46572;AAI52726;EAX02368;NP_068739;P09683 Hs.632324 5492505;5493049 UniSTS:481377;UniSTS:484039 OTTHUMP00000164437;prepro-secretin;secretin APPROVED protein-coding 10607 08354 108720;108721;112310;150250;182099;272460 REVIEWED 1351146 SCPEP1 serine carboxypeptidase 1 17 17 17 q22 51517044 51545707 + 52410467 52439128 + 55055468 55084129 + 70518;1580863;6480464 11447226 15489334;15340161;14702039;12975309;12754519;12477932;17207965;22863883;21890473;21906983;21935400 59342 I3L195;I3L2N6;I3L4Z3;I3L4Z9;I3L506;Q9H2J9;Q9HB40 ABBA01041310;AC004584;AC007114;AF113214;AF265441;AF282618;AK027373;AK092928;AK298161;AMYH01008500;AY358559;BC010078;BC072405;CH471109;DC344612;NM_021626 AAG16692;AAG39285;AAG44699;AAH72405;AAQ88923;ADQ32066;BAB55069;BAG60434;EAW94520;EAW94521;NP_067639;Q9HB40 Hs.514950 1668083;1688199;2219678 G18002;RH92976;SCPEP1__5557 HSCP1;RISC retinoid inducible serine carboxypeptidase;retinoid-inducible serine carboxypeptidase;serine carboxypeptidase 1 precursor protein protein-coding ENSG00000121064 29507 10194 VALIDATED 1317110 SCRN2 secernin 2 17 17 17 q21.32 42367851 42371503 - 43270057 43273611 - 45915047 45918699 - 6480464 15489334;12477932;12221138;17207965;21044950 90507 J3KS57;J3KT79;J3QL71;J3QQM9;J3QR84;J3QRJ1;Q96FV2 ABBA01041146;AC003665;AK290646;AK303835;AK308989;AMYH01008451;AW452880;BC002980;BC010408;BC017317;CH471109;CN480733;NM_001145023;NM_138355 AAH02980;AAH10408;AAH17317;ABM83735;ADQ32863;BAF83335;BAH14063;EAW94790;EAW94791;EAW94792;NP_001138495;NP_612364;Q96FV2 Hs.239718 1652222 WI-16780 Ses2 secernin-2 protein-coding ENSG00000141295 30381 10213 614966 VALIDATED 1348666 SCRN1 secernin 1 This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 7 7 7 p14.3-p14.1 29949107 30019299 - 29926253 29995902 - 29959719 30029905 - 1580863;6480464 10942595;16630140;15489334;12853948;12477932;12221138;12168954;11921445;9847074;8724849;19019082;21385630;20039278;20379614;20381070;17207965;22863883;22360420;21139048;21906983;23000965;23251661 9805 B4DIV7;B8ZZP4;C9J7U9;C9K052;Q12765 AA910381;AACC02000087;AB071705;ABBA01056806;ABBA01056807;AC004912;AC007285;AK289514;AK293462;AK294891;AK295172;AK295713;AK295800;AMYH01017145;BC040492;CH471073;D83777;DC307846;DC370097;HH836336;JA039643;NM_001145513;NM_001145514;NM_001145515;NM_014766 AAH40492;AAQ96874;ADQ32965;BAA12106;BAE91926;BAF82203;BAG56957;BAG57983;BAG58182;BAG58557;BAG58619;CBX33278;CCA61719;EAL24458;EAW93926;EAW93927;EAW93928;NP_001138985;NP_001138986;NP_001138987;NP_055581;Q12765 Hs.520740 1660776;1661694;1712304;1786376;1854924;2168335;2186982 D7S2271E;D7S370;G54061;RH25406;RH66311;SHGC-171947;SHGC-56008 KIAA0193;SES1 OTTHUMP00000122627;OTTHUMP00000202313;OTTHUMP00000202315;OTTHUMP00000225306;secernin-1 APPROVED protein-coding ENSG00000136193 22192 15304 614965 REVIEWED 1314736 SCRT1 scratch homolog 1, zinc finger protein (Drosophila) This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013] 8 8 8 q24.3 141716494 141734723 - 145525262 145530751 - 145554454 145559943 - 1580863;6480464 11274425;15489334;12477932;11687288;11181995;20043117 83482 Q9BWW7 ABBA01005213;ABBA01005214;ABBA01005215;AC142402;AC233992;AF205589;AL512683;AMYH01019147;AMYH01019148;AY014996;BC014675;BC024967;BC093806;BX420136;CH471162;NM_031309 AAH14675;AAI68377;AAK01467;EAW82125;NP_112599;Q9BWW7 Hs.31746 2220550 UniSTS:484395 DKFZp547F072;SCRT;ZNF898 OTTHUMP00000228987;hScrt;scratch 1;scratch homolog 1 zinc finger protein;transcriptional repressor scratch 1 APPROVED protein-coding 15950 16166 605858 REVIEWED 1321471 SCRIB scribbled planar cell polarity protein This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 8 8 q24.3 144945078 144969537 - 144873090 144897549 - 2293492;6480464 17226800 15231747;19555689;19041750;18716323;18661220;18641685;18513328;18042258;17509663;17081983;17043654;16965391;16964243;16619250;16611247;16482544;16344308;16137684;16103886;15975580;15806148;15775968;15649318;15489334;15345747;15302935;15261375;15144186;14710229;14681682;12477932;12168954;11027293;8590280;15761153;17855372;21145461;22179838;20622900;21489588;21086040;20939435;15182672;18793635;19386766;19615732;19959811;20702615;20936341;21549346;23922697;21849460;21701506;22095531;20360068;21965329;19071123;21139048;21890473;21906983;19738201;22623428;22792261;23000965;22053931;19875381 23513 A0PJK8;H0YCG0;H0YDF9;Q14160 ABBA01005240;AC105219;AF240677;AF271734;AF318352;AI829609;AMYH01019116;AMYH01019117;AY062238;BC009490;BC014632;BC026045;BC036905;BC044627;BC063590;CH471162;D63481;NG_030583;NM_015356;NM_182706 AAH09490;AAH14632;AAH44627;AAI46322;AAL38976;AAL55859;AAP88017;AAP88018;BAA09768;EAW82196;EAW82197;EAW82198;NP_056171;NP_874365;Q14160 Hs.436329 2126488;2135632;5016419 RH25368;RH70666;WI-19511 CRIB1;SCRB1;SCRIB1;Vartul OTTHUMP00000228640;OTTHUMP00000228641;OTTHUMP00000228643;hScrib;protein scribble homolog;scribble;scribbled homolog APPROVED protein-coding ENSG00000180900 30377 06984 607733 REVIEWED 1625822 SCXB scleraxis homolog B (mouse) 8 8 8 q24.3 141665524 141666939 + 145393505 145395033 + 145321517 145323045 + 6480464 16421571;12617822 642658 Q7RTU7 AC145291;NM_001080514 NP_001073983;Q7RTU7 Hs.553250 SCXA;bHLHa48 bHLHa41;basic helix-loop-helix transcription factor scleraxis;class A basic helix-loop-helix protein 41;class A basic helix-loop-helix protein 48 protein-coding ENSG00000187786 32322 VALIDATED 1601802 SCXA scleraxis homolog A (mouse) 8 8 q24.3 145461347 145463278 + 145490603 145492131 + 6480464 16421571;15338228;12837285;12617822;11585810;17129431;19828133;19087640;10775504;9050988;21988170;22796342;21424732 100129885 Q7RTU7 ABBA01005217;AC110280;AMYH01019137;AMYH01019138;BK000280;NM_001008271 DAA00239;NP_001008272;Q7RTU7 Hs.723088 SCX;SCXB;bHLHa41 OTTHUMP00000228469;bHLHa48;basic helix-loop-helix transcription factor scleraxis;class A basic helix-loop-helix protein 41;class A basic helix-loop-helix protein 48;class II bHLH protein scleraxis protein-coding 24312 609067 PROVISIONAL 1312871 SCRN3 secernin 3 2 2 2 q31.1 168873893 168907739 + 174968713 175001974 + 175260457 175294303 + 6480464 15815621;15489334;14702039;12477932;12221138;11238933;8889548;16344560;21139048;21890473 79634 C9JID8;C9JNS3;F8W0M9;F8WBX0;H9KVC8;Q0VDG4;Q0VDG5 AA227619;ABBA01062187;ABBA01062188;AC018470;AF279776;AK026795;AK057912;AK295357;AK296558;AMYH01011282;BC031821;BC119684;BC119685;BG492502;BM725063;CH471058;CK301138;DA760451;NM_001193528;NM_024583 AAH31821;AAI19685;AAI19686;AAY24217;BAB15555;BAG58323;BAG59179;EAX11140;EAX11141;EAX11142;EAX11143;NP_001180457;NP_078859;Q0VDG4 Hs.470679 1694442;1694582;1722095;1847053;2123575;2132476;2170448 D2S1626E;G20279;G42934;G43281;G60089;RH35807;WI-15486 FLJ23142;MGC149597;SES3 OTTHUMP00000163170;OTTHUMP00000205169;secernin-3 protein-coding ENSG00000144306 30382 18028 614967 VALIDATED 1319121 SCUBE1 signal peptide, CUB domain, EGF-like 1 This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011] 22 22 22 q13 27509622 27649802 - 41929174 42069299 - 43599229 43739394 - 1580863;6480464 12270931;16753137;15234972;12477932;11597177;11087664;10591208;20962850;15028280;8889548;23220851;22874483;23149075;23382691 80274 A0JP65;B1AH90;H0Y4Y9;Q6ZS56;Q86TI6;Q8IWY4 ABBA01017904;ABBA01017905;ABBA01017906;AF525689;AK127719;AMYH01012826;AMYH01012827;BC047916;BC127263;BG901065;BM714681;BQ183912;BU101852;BX280767;CH471138;DN991996;DR003420;NG_029056;NM_173050;Z82214;Z99756 AAH47916;AAI27264;AAI56732;AAN77133;BAC87098;EAW73295;EAW73296;EAW73297;EAW73298;EAW73299;EAW73300;EAW73301;EAW73302;NP_766638;Q8IWY4 Hs.133995 2136413 D22S1681 OTTHUMP00000198230;signal peptide, CUB and EGF-like domain-containing protein 1;signal peptide-CUB domain-EGF-related 1 APPROVED protein-coding ENSG00000159307 13441 18029 611746 REVIEWED 1343319 SCZD1 schizophrenia disorder 1 7240710 2903449 6377 1334915;1335129;1337197;7185107;7185327;7186056 D5S1473;D5S406;D5S408;D5S433 10649 181500 1342478 SCZD10 schizophrenia disorder 10 (periodic catatonia) 7240710 11001582 63944 1335361;1336480;1337014;1341495;7187979 D15S1036;D15S118;D15S128;D15S165 17339 1350306 SCZD2 schizophrenia disorder 2 7240710 6378 1298156;1298202 D11S2002;D11S2371 10650 181500 1346514 SCZD3 schizophrenia disorder 3 7240710 7647789 6365 1337587;1337794;1340812 D6S260;D6S277;D6S296 10651 181500 736213 SCTR secretin receptor The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008] 2 2 q14.1 119913889 119998498 - 120197419 120282028 - 729676;1580863;6480464;6907045 1646711 7612008;18680717;18401761;18223557;17711922;17678920;16935383;16819820;16344560;16192632;15706223;15670850;14702039;14645499;12477932;11517171;10537138;10437774;9506976;9453500;9440501;8579602;8575789;8390245;7864894;7782300;7700244;3186683;1335692;12036966;18240029;19886671;19904746;21851058;21988832;22964305 6344 P47872;Q8IV17 AB065660;ABBA01045924;ABBA01045925;AC013275;AK055551;AK314638;AMYH01010988;AY462218;BC035757;CH471103;DA930115;NG_029904;NM_002980;U13989;U20178;U28281 AAA64949;AAA87556;AAC50106;AAH35757;AAR25625;AAY14741;BAC05886;BAG37200;EAW95219;NP_002971;P47872 Hs.42091 1657231;1677736;1751003;1773526 RH68868;RH79136;SHGC-104924;STS-U28281 SR OTTHUMP00000162098;SCT-R;pancreatic secretin receptor;secretin receptor APPROVED protein-coding ENSG00000080293 10608 01628 182098 REVIEWED 1353691 SCZD4 schizophrenia disorder 4 7240710 8178837 6379 10652 239500;600850 1345019 SCZD5 schizophrenia disorder 5 7240710 9226366 6380 10653 181500 1348335 SCZD6 schizophrenia disorder 6 7240710 8400 1334607;1334904;1337367;1338138;1338538;1339967;1341270;1342354 D8S1106;D8S136;D8S1771;D8S1819;D8S264;D8S439;D8S532;D8S560 10654 181500;603013 1348629 SCZD7 schizophrenia disorder 7 7240710 8401 1335883;1336755;1337275;1337630;1339782;1341201;5121121;7186705;7186954 D13S1293;D13S1315;D13S168;D13S170;D13S174;D13S317;D13S779;D13S793 10655 181500 1351973 SCZD8 schizophrenia disorder 8 7240710 9758604 8806 1336669;1337457 D18S450;D18S451 10656 181500 1343330 SCZD9 schizophrenia disorder 9 7240710 10784452 51785 17338 181500;604906 1347535 SD segregation distortion (Drosophila) 6381 10657 1349630 SDAD1P1 SDA1 domain containing 1 pseudogene 1 8 8 8 p21.2 25199029 25201537 - 26292763 26294951 - 26236646 26239154 - 157489 ABBA01005571;AC022911;AMYH01018593;NG_006994 pseudo 31403 INFERRED 1352231 SDAD1P2 SDA1 domain containing 1 pseudogene 2 20 20 p12.2 10314427 10316702 + 10366427 10368463 + 400836;404669 ABBA01053932;AL034430;AMYH01011710;NG_021986 1689071 RH48675 pseudo 31404 INFERRED 6481501 SDAD1P3 SDA1 domain containing 1 pseudogene 3 3 33813455 33813787 + 100873858 ABBA01024899;AC112220;AMYH01013069;NG_032239 pseudo 39260 INFERRED 4889254 SDAD1P4 SDA1 domain containing 1 pseudogene 4 13 13 4904376 4906281 + 23841375 23843280 + 100419955 ABBA01007872;AL160256;AMYH01004968;NG_024899 pseudo 39261 INFERRED 1353066 SDAD1 SDA1 domain containing 1 4 4 4 q21.1 74171578 74212624 - 77090092 77131137 - 76871068 76912113 - 737633;6480464 12477932 14702039;17353931;11790298;15635413;15607425;14976432;11483580;9847074;20834067;20379614;22939629;18029348;21890473;19322201 55153 D6RC74;D6RIR5;E7EW05;F8W8T7;Q9NVU7 ABBA01063353;ABBA01063354;AC110615;AC112719;AC115628;AF132198;AK001360;AK022683;AK024031;AK300074;AK307540;AMYH01014309;AMYH01014310;BC048351;BC054040;BC063797;BC107895;BJ989617;BU619826;CH471057;CR749574;DN602051;NM_018115 AAG35544;AAH54040;AAH63797;AAI07896;AAI68370;BAA91648;BAB14177;BAB14790;BAG61878;CAH18368;EAX05761;EAX05762;NP_060585;Q9NVU7 Hs.632604 1337326;1670709;1676338;1689071;2151349;2169257 D4S2453;D4S3042;G33649;RH48675;RH98663;SHGC-59431 DKFZp686E22207;FLJ10498 OTTHUMP00000160605;OTTHUMP00000160606;OTTHUMP00000219217;SDA1 domain-containing protein 1;hSDA;nucleolar protein 130;protein SDA1 homolog protein-coding ENSG00000198301 25537 10214 VALIDATED 1352842 SCUBE2 signal peptide, CUB domain, EGF-like 2 11 11 11 p15.3 9160716 9235000 - 8998511 9069731 - 9041047 9113150 - 1580863;6480464 14702039;19369267;18676680;15489334;12477932;12270931;11528127;19170196;19480626;19625176;19692168;20379614;21652720;23279374 57758 E7EQD6;H0YD28;H0YDN3;H0YEB3;H0YEI5;Q9NQ36 ABBA01061201;AC079296;AF086390;AJ400877;AK092153;AK092553;AK123039;AK131552;AL133990;AMYH01003378;AMYH01003379;BC111690;CH471064;DN995815;NM_001170690;NM_020974 AAI11691;BAC85521;BAD18686;BAG52571;CAB92285;EAW68602;EAW68603;NP_001164161;NP_066025;Q9NQ36 Hs.523468 1339885;1721351;1765411;1798130;2147095;2177573;5491467 D11S4188;G59675;MARC_14461-14462:1010436954:1;RH45205;RH71184;SCUBE2_2595;SHGC-148899 CEGP1;Cegb1;Cegf1;FLJ16792;FLJ35234;MGC133057 OTTHUMP00000225263;OTTHUMP00000225264;OTTHUMP00000230760;signal peptide, CUB and EGF-like domain-containing protein 2 protein-coding ENSG00000175356 30425 18030 611747 VALIDATED 1312575 SCUBE3 signal peptide, CUB domain, EGF-like 3 6 6 6 p21.3 36736150 36772575 + 35290168 35326587 + 35182190 35218609 + 6480464 15234972;18391951;15489334;14702039;14574404;12477932;12270931;20546612;21441952 222663 Q8IX30;Q8NAV8 ABBA01038221;ABBA01038222;AF452494;AK092010;AK092062;AK291218;AMYH01016264;AMYH01016265;AY639608;BC052263;BX537875;CH471081;CR936607;CR936873;NM_152753;Z97832 AAH52263;AAN76808;AAU08347;ACE86924;ACE87611;BAC03789;BAC03798;BAF83907;CAD97875;CAI56752;CAI59785;EAX03810;EAX03811;EAX03812;EAX03813;NP_689966;Q8IX30 Hs.12923 1644120;1655398;1655400;1670496;2130958 D6S2187;RH46635;RH46803;RH69466;SGC30588 CEGF3;DKFZp686B09105;DKFZp686B1223;DKFZp686D20108;FLJ34743 CUB and EGF containing protein 3;CUB domain and EGF-like repeat containing 3;OTTHUMP00000016250;signal peptide, CUB and EGF-like domain containing protein 3;signal peptide, CUB and EGF-like domain-containing protein 3 protein-coding ENSG00000146197 13655 18031 614708 PROVISIONAL 1343640 SCYL2 SCY1-like 2 (S. cerevisiae) 12 12 12 q23.1 100326815 100399182 + 99185680 99258048 + 100661549 100733917 + 6480464 17587408;16914521;16903783;15809293;15489334;14702039;12477932;10718198;15231748;1589293;19643732;21182205;22939629;12777385;21139048;17620599;23084401;20467438;23341777;23047923 55681 F8VPW3;F8VSC5;H0YI32;H0YIK6;Q6P3W7 AB037781;ABBA01053257;ABBA01053258;ABBA01053259;AC026110;AK000936;AK001597;AK024274;AK026160;AK027551;AK125091;AK292980;AMYH01004696;AMYH01004697;BC011525;BC012387;BC063798;CH471054;NM_017988 AAH12387;AAH63798;BAA91433;BAA91778;BAA92598;BAB14869;BAB55194;BAF85669;EAW97630;EAW97631;EAW97632;EAW97633;EAW97634;EAW97635;EAW97636;NP_060458;Q6P3W7 Hs.506481 2133518;2135228;2150324 BCD1539;RH48161;WI-17588 CVAK104;FLJ10074;KIAA1360 OTTHUMP00000243486;OTTHUMP00000243487;SCY1-like protein 2;coated vesicle-associated kinase of 104 kDa protein-coding 19286 07642 PROVISIONAL 1349419 SDC4P syndecan 4 pseudogene 22 22 22 q12.2 14676991 14677457 - 29207277 29207743 - 30877277 30877743 - 12652906;22747683 376844 ABBA01055299;AC004832;AF520746;AMYH01012707;NR_001580 Hs.534651 pseudo 18903 PROVISIONAL 1603625 SCYL3 SCY1-like 3 (S. cerevisiae) This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012] 1 1 1 q24.2 142931586 142972865 - 168088854 168129661 - 169822215 169863100 - 6480464 12477932;12651155;18029348;19064610;16710414;16381901;16344560;15489336;15489334;15003124;11076863;20379614;21139048;21890473;21906983;21188226 57147 Q8IZE3 AA844031;ABBA01027945;AF540957;AK292507;AK304481;AL031297;AL117233;AMYH01001490;AY144493;BC014662;BX647352;CH471067;DA449356;DB285397;NM_020423;NM_181093 AAH14662;AAN23123;AAN41656;ABM84394;ABM87343;BAF85196;BAG65292;CAB55300;CAL38717;EAW90867;EAW90868;NP_065156;NP_851607;Q8IZE3 Hs.435560;Hs.443551 1670457;1699940;1752833;1847091 RH103578;SHGC-106696;SHGC-75868;SHGC-75871 PACE-1;PACE1;RP1-97P20.2 OTTHUMP00000034140;OTTHUMP00000034141;OTTHUMP00000034142;SCY1-like protein 3;ezrin-binding partner PACE-1 (PACE-1);ezrin-binding protein PACE-1;protein-associating with the carboxyl-terminal domain of ezrin APPROVED protein-coding ENSG00000000457 19285 07459 608192 REVIEWED 1316462 SCYL1 SCY1-like 1 (S. cerevisiae) This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q13 65049124 65062758 + 65292548 65306182 + 6480464 12783284;10843802;18556652;19198626;17081983;16903783;16713569;16261899;15963946;15504359;15489334;15459234;15342556;12477932;12036289;11118629;11042159;8889548;20548946;22623531;20598683;18029348;20505071;20209057;19958622;21832049;22863883;22939629;21988832;22504420;22570270 57410 E9PK59;E9PPN3;E9PS17;H0YCI6;H0YDH0;Q96KG9 AB047077;AB051427;AB051428;ABBA01024113;AF225424;AF255613;AF297709;AK302198;AK314945;AMYH01003721;AP000769;BC009967;BC069233;BP281963;BU728709;CH471076;NM_001048218;NM_020680 AAF81422;AAG09726;AAG17902;AAH09967;AAH69233;BAB55454;BAB55458;BAB55459;BAG63559;EAW74395;EAW74396;EAW74397;EAW74398;EAW74399;EAW74400;NP_001041683;NP_065731;Q96KG9 Hs.238839 1769455;1770095;1773880;2176772;2181563;2190901 D11S1209;G38718;MARC_10501-10502:1000139918:1;RH65764;RH78678;WI-15382 GKLP;HT019;MGC78454;NKTL;NTKL;P105;TAPK;TEIF;TRAP N-terminal kinase-like protein;OTTHUMP00000232618;OTTHUMP00000232619;OTTHUMP00000232620;OTTHUMP00000232621;OTTHUMP00000232622;OTTHUMP00000232632;OTTHUMP00000232737;SCY1-like protein 1;coated vesicle-associated kinase of 90 kDa;likely ortholog of mouse N-terminal kinase-like protein;telomerase regulation-associated protein;telomerase transcriptional element-interacting factor;telomerase transcriptional elements-interacting factor;teratoma-associated tyrosine kinase APPROVED protein-coding ENSG00000142186 14372 06414 607982 REVIEWED 1343030 SDC3 syndecan 3 The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009] 1 1 pter-p22.3 31118567 31154067 - 31342313 31381480 - 1580863;1357925;6480464;6484113;6907045;7240710 15189116 18716876;18599487;18093920;18040049;17368428;17018662;16710414;16674815;16052590;15489334;14504279;12477932;11968010;11751872;11527150;10460248;9553134;9455484;9388509;9089390;8662884;8344959;8175719;1556152;16817962;16157597;9342064;7690138;12885232;11567105;11024024;10497173;9111037;8570206;11152476;16982797;19820907;19822079;21050724;21200028;21555518;17620599;23351331 9672 D3DPN2;O75056 AB007937;ABBA01023495;AF248634;AK295698;AL049426;AL445235;AMYH01000450;BC013974;BQ887307;CH471059;NG_013371;NM_014654 AAK39969;ABM82826;ABM86012;BAA32313;BAG58546;EAX07636;EAX07637;EAX07638;NP_055469;O75056 Hs.158287 1698854 RH102992 N-syndecan;SDCN;SYND3 N-syndecan;OTTHUMP00000040577;syndecan 3 (n-syndecan);syndecan neural type;syndecan proteoglycan 3;syndecan-3 APPROVED protein-coding 10660 01719 186357;601665 REVIEWED 7175589 SDCBPP1 syndecan binding protein (syntenin) pseudogene 1 10 p15.1 6335063 6336647 - 100128930 ABBA01034765;AL359960;AMYH01002004;NG_011666 pseudo 44684 INFERRED 7175684 SDCBPP2 syndecan binding protein (syntenin) pseudogene 2 8 q13.3 70855156 70856521 + 100129960 ABBA01041930;AC090574;AMYH01018780;NG_030275 pseudo 44686 INFERRED 7175935 SDCBPP3 syndecan binding protein (syntenin) pseudogene 3 X p11.4 40749900 40750790 - 100131656 ABBA01046762;AC092268;AMYH01022226;NG_022592 2146407;2146409 RH47142;SGC32650 pseudo 44687 INFERRED 730864 SDC1 syndecan 1 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008] 2 2 p24.1 20264039 20288675 - 20400558 20425194 - 1580863;1643125;1643127;1643128;1643129;1643133;1357925;2311712;6480464;6484113;6907045 17403197;16810465;16622173;11522680;14704229;15189116;9237025 12902511;12885232;12879463;12824007;12749851;12660231;12477932;12464176;12144130;12091355;11830493;11567105;11179419;11168765;11024024;10506830;10497173;9857223;9792716;9660868;9565572;9548182;9342064;9294130;9111037;9089390;9050911;8889548;8570206;8163535;8125298;8118875;7959737;7690138;7592967;16982797;2324102;19420730;19351365;19305494;19255147;19228696;19126645;19107206;19073610;19029267;19020713;19010933;18957427;18694404;18657535;18542065;18450755;18450428;18413760;18386024;18378436;18190591;18093920;18064305;18006945;17625591;17579341;17455248;17431390;17413980;17339423;17314405;17149710;16945147;16884912;16857657;16840194;16778379;16773719;16720645;16636895;16341674;16286510;16247452;16132527;16020957;16007225;15902740;15886501;15770719;15743035;15728209;15648090;15489334;15479743;15459490;15383330;15297422;15126321;14972511;14744776;14701864;14645569;14637022;14630925;14521955;12975379;12947106;12920224;12904296;7592855;2519615;2173154;1664683;1644217;1442271;1339431;16817962;16157597;8175719;22629140;22238310;20471559;20430722;20013319;20398359;20598296;20736897;11877089;18029348;18997617;19251947;19456850;19473447;19581738;19596856;19632304;19696445;19735958;19802384;19822079;19860843;19866343;19875451;20008145;20036233;20083849;20097882;20204274;20237901;20307537;20361982;20477813;9566955;19450993;20200931;20927321;22714920;21832049;22766978;22939629;21148276;20971705;22672327;22680042;22905270;23066085;20081059;21334435;21257720;21430259;21630196;15292202;21317913;21414405;21320038;21463121;21757697;21772125;21454203;21731601;21886795;22338054;21265098;21623993;21898481;21987572;22024722;21139048;21906983;22102278;23206733;23570784;23576506;23824909;20193112;21957484;22308310;22298773;21327984;22237752;22673509;22936802;22150439;22351752;22418956;21963094;22686587;22994707;23408834;23504321;22899717;23431957;23289672;23331867;22573479;19661268;19859083;22745764 6382 AAB21434;AAB23935;E9PHH3;F8WCX9;H7C1K4;P18827 ABBA01018478;ABBA01018479;AC104792;AJ551176;AK222739;AK299385;AK313974;AMYH01010148;AMYH01010149;BC008765;BM785035;BM910157;CB321970;CH471053;J05392;NM_001006946;NM_002997;X60306;Z48199 AAA60605;AAB21434;AAB23935;AAH08765;AAX93151;ABM84191;ABM87594;BAD96459;BAG61371;CAA42851;CAA88235;CAD80245;EAX00828;EAX00829;EAX00830;EAX00831;NP_001006947;NP_002988;P18827 Hs.224607;Hs.665958 2124763;2142582;2161931 RH16622;RH17406;RH67771 CD138;SDC;SYND1;syndecan CD138 antigen;OTTHUMP00000115942;heparan sulfate proteoglycan fibroblast growth factor receptor;syndecan proteoglycan 1;syndecan-1 1643262;1643271 BW207_H;BW214_H APPROVED protein-coding ENSG00000115884 10658 01718 186355 REVIEWED 1349476 SDCCAG3P1 serologically defined colon cancer antigen 3 pseudogene 1 18 18 18 q21.32 54395254 54396342 - 55828098 55829386 - 57677217 57678305 - 388478 ABBA01056175;AC090377;AMYH01009040;NG_005510 SDCCAG3L APPROVED pseudo 29375 INFERRED 4777671 SDCCAG3P2 serologically defined colon cancer antigen 3 pseudogene 2 1 1 1 q25.1 148123432 148124515 - 173280261 173281471 - 175013765 175014848 - 22118674 646891 ABBA01027873;AMYH01001514;NG_022743;Z99297 pseudo 39164 INFERRED 730877 SDC4 syndecan 4 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] 20 20 q12 43387342 43410478 - 43953928 43977064 - 1580863;2312328;2311707;2312325;6480464;6484113;6907045 11372670;14633120;15001228 17879962;18029348;1500433;19350579;18638267;18499669;18342939;18158320;18093920;17901052;17870067;16822948;16636895;16319082;16253987;16087677;16007225;15968398;15819887;15731100;15572366;15489334;15033938;14652650;14637022;12885232;12509413;12493766;12477932;12377772;12241528;12011116;11916978;11889131;11805099;11801740;11780052;11567105;11549250;11456484;11024024;10911369;10497173;9660868;9582338;9556568;9342064;9111037;8797100;8621465;8570206;8125298;8019004;7916598;7690138;7626103;16817962;16157597;16982797;22531343;19913121;20485444;20628086;20639201;14670076;17545042;18775505;19519784;19538537;19632304;19684582;19695308;19696445;19821490;19822079;19875451;20229236;20398359;20607801;20953189;20929862;21036168;21482826;21252093;21430259;21414405;21949132;22623531;22164265;21139048;21906983;12571249;22268118;22351752;19322201;22569333;21988832;23374111;23374155;23525101 6385 B4E1S6;P31431 ABBA01052660;AK222695;AK223243;AK303964;AK312507;AL021578;AMYH01011937;BC030805;CH471077;CR542045;CR542074;D13292;D79206;NM_002999;X67016 AAH30805;ABM81644;ABM84824;BAA02550;BAA19613;BAD96415;BAD96963;BAG35408;BAG64888;CAA47406;CAG46842;CAG46871;EAW75860;EAW75861;EAW75862;NP_002990;P31431 Hs.632267 1694626;1698272;1712236;1722051;1796724;1850738;2126987;2131177 G43350;G54026;G59912;RH102672;RH48325;SDC4_251;WI-11633;WI-7527 MGC22217;SYND4 OTTHUMP00000031788;amphiglycan;ryudocan amphiglycan;ryudocan core protein;syndecan 4 (amphiglycan, ryudocan);syndecan proteoglycan 4;syndecan-4 APPROVED protein-coding ENSG00000124145 10661 08366 600017 REVIEWED 734386 SDC2 syndecan 2 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008] 8 8 q22-q23 97575058 97693213 + 97505882 97624037 + 1580863;2311706;6480464;6484113;6907045 14976204 19179614;19086053;19073173;18716610;18599487;18342939;18093920;18032547;17623663;17516498;17457918;17261577;17035092;16997272;16440330;16303743;16253987;15936998;15489334;15297422;15183101;14999018;14702039;14674716;14527339;12885232;12860968;12860416;12708751;12477932;12200971;12055189;12036876;11567105;11373281;11161813;11024024;11023673;11018053;10772816;10734053;10704377;10497173;10446183;10375199;9869645;9660868;9391086;9342064;9259269;9244383;9111037;8997243;8889549;8832397;8570206;8187643;8157651;7690138;7551962;7524669;22437834;2948951;2745554;2523388;1315572;16817962;16157597;12676536;16982797;19913121;20485444;20628086;11356864;11580899;15846369;19288017;19383343;19641225;19786981;19822079;19962968;20006588;20379614;19450993;20683009;22471946;18256285;20929862;21036168;21289173;21148276;22550000;21482826;21569759;21317913;21139048;21987572;21813734;22238310;22227189;22170634;19322201;22493442;21963094;21988832;23000965;23297089;23455922;22558273;22745764;22881146 6383 E5RHU3;E5RJB8;E7ESK6;E9PBI9;P34741 AA114891;ABBA01037493;ABBA01037494;ABBA01037495;AK025488;AK074530;AK097839;AK130131;AK298643;AK298939;AK300067;AMYH01018908;AP003477;AP003548;BC030133;BC049836;CH471060;CK825252;J04621;NM_002998 AAA52701;AAH30133;AAH49836;ADR82698;BAB15150;BAG51965;BAG53540;BAG60818;BAG61873;BAH12908;EAW91755;EAW91756;NP_002989;P34741 Hs.1501;Hs.598247 1342338;1646757;1670238;1703336;1788754;2130451;2139952;2145473;2178944;2191409 D8S1018;MARC_21367-21368:1023204259:1;RH12464;RH129475;RH16471;RH45426;SHGC-32567;SHGC-36183;SHGC-52456;SHGC-68575 CD362;HSPG;HSPG1;SYND2 OTTHUMP00000227223;OTTHUMP00000227224;OTTHUMP00000227225;OTTHUMP00000227226;OTTHUMP00000227227;OTTHUMP00000227228;cell surface-associated heparan sulfate proteoglycan 1;fibroglycan;heparan sulfate proteoglycan 1, cell surface-associated;heparan sulfate proteoglycan core protein;syndecan proteoglycan 2;syndecan-2 APPROVED protein-coding ENSG00000169439 10659 00803 142460 REVIEWED 6893194 SDCBP2-AS1 SDCBP2 antisense RNA 1 20 1305987 1359379 + 12477932;14702039;16344560 100507495 ABBA01053769;ABBA01053770;ABBA01053771;AK055993;AL109658;AL136531;AMYH01011663;BC034773;DA094549;DA274215;DB454162;NR_040047;NR_040048;NR_040049 Hs.655785 1653597;1655308;1740657;1758131;1846548;2126829 D20S1003;RH68384;SGC33430;SGC35429;SHGC-147477;STS-X52220 miscrna 44314 VALIDATED 1343667 SDCBP syndecan binding protein (syntenin) The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 8 8 q12 59628282 59657973 + 59465728 59495419 + 1580863;6480464;6484113 11891216;9391086;11498591;15371445;11152476;12037664;10230395;9883737;11179419;18839981;18832467;18256285;18234474;17666427;17451681;17081065;16322237;15518882;15489334;15276154;15254681;15126321;15081807;12679023;12643545;12597860;12477932;12403354;12241528;12202822;22349701;11432873;10770943;10473577;9920925;9511750;12775419;15014045;20233700;15231748;16034076;16169070;19228696;19592421;19654410;20145126;21569759;20228839;22938480;23233738;21359963;21949238;16196087;21828040;21986941;21139048;21890473;21906983;21987572;22267972;22201728;22535526;19738201;21988832;22623428;23000965;23066033;22190034 6386 B4DHN5;E9PBU7;G5EA09;O00560 ABBA01041789;AC068522;AF000652;AF006636;AK128645;AK295198;AK298697;AK300647;AK312274;AMYH01018743;BC013254;BC113674;BC113676;BC143915;BC143916;BG111210;BG772269;BU160865;CH471068;NM_001007067;NM_001007068;NM_001007069;NM_001007070;NM_005625;U83463 AAB51246;AAB97144;AAC52050;AAI13675;AAI13677;AAI43916;AAI43917;ADR82910;BAG35204;BAG58197;BAG60855;BAG62335;EAW86812;EAW86813;EAW86814;EAW86815;EAW86816;NP_001007068;NP_001007069;NP_001007070;NP_001007071;NP_005616;O00560 Hs.200804 1657934;1682964;1852772;1852774;2146407;2146409;5021163;5091004;5113506 D8S1955;RH16388;RH47142;RH64949;RH91764;SGC32650;SHGC-35930;SHGC-83;STS-G07282 MDA-9;ST1;SYCL;TACIP18 OTTHUMP00000226412;OTTHUMP00000226413;OTTHUMP00000226414;OTTHUMP00000226415;OTTHUMP00000226416;OTTHUMP00000226417;OTTHUMP00000226418;melanoma differentiation associated protein-9;melanoma differentiation-associated protein 9;pro-TGF-alpha cytoplasmic domain-interacting protein 18;scaffold protein Pbp1;syndecan-binding protein 1;syntenin-1 APPROVED protein-coding ENSG00000137575 10662 03741 602217 REVIEWED 1314253 SDCCAG3 serologically defined colon cancer antigen 3 9 9 9 q34.3 109811312 109819899 - 138416195 138424875 - 139296374 139305054 - 6480464 16332174;14702039;12477932;9610721;16169070;17353931;15388255;21297633;21832049;19322201;22118674;21139048;21890473;21906983;21988832;23383273;23128233 10807 B5MDD7;H7C331;Q6V704 AA742964;ABBA01022707;ABBA01022708;AF039688;AK001296;AL559847;AL592301;AMYH01021861;AY129014;AY349357;BC014515;BM549484;BQ723499;CH471090;NM_001039707;NM_001039708;NM_006643 AAC18037;AAH14515;AAM98757;AAQ56721;ABM84009;ABM87348;BAA91607;EAW88228;EAW88229;EAW88230;EAW88231;NP_001034796;NP_001034797;NP_006634;Q96C92 Hs.94300 2153066;2165067 RH70466;STS-H69662 NY-CO-3 OTTHUMP00000022576;OTTHUMP00000022577;OTTHUMP00000022578;OTTHUMP00000022582;antigen NY-CO-3;serologically defined colon cancer antigen 3 protein-coding ENSG00000165689 10667 15307 VALIDATED 1317056 SDCBP2 syndecan binding protein (syntenin) 2 The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011] 20 20 20 p13 1386949 1406180 - 1238619 1257838 - 1290553 1309879 - 633988;1580863;6480464 11152476 16344560;16189514;15489334;14702039;12477932;11780052;11102519;9110174;8619474;15342556;8889548;16712791;15961997;16884951;22623796 27111 Q9H190 AA514519;AA907131;ABBA01053769;ABBA01053770;AF131809;AF159228;AJ292244;AJ292245;AK022318;AK296577;AL136531;AMYH01011663;BC002727;BI599848;BM987490;BP261525;BU684857;CB147569;CB154525;CH471133;DB018804;NG_029926;NM_001199784;NM_015685;NM_080489 AAD20049;AAF80369;AAH02727;BAG59197;CAC21573;CAC21716;EAX10639;EAX10640;NP_001186713;NP_056500;NP_536737;Q9H190 Hs.657015 2126556;2135939;5022588 D5S1597E;SHGC-37152;Z94646 FLJ12256;SITAC;SITAC18;ST-2 OTTHUMP00000029961;OTTHUMP00000029962;OTTHUMP00000029963;OTTHUMP00000029964;syndecan-binding protein 2;syntenin-2 APPROVED protein-coding ENSG00000125775 15756 18032 REVIEWED 1603354 SDE2 SDE2 telomere maintenance homolog (S. pombe) 1 1 1 q42.12 199361495 199378155 - 224237026 224253689 - 226170403 226187066 - 6480464 14702039;12477932;16712791;17643375;21139048;21906983;21333630;19322201 163859 Q6IQ49 ABBA01009661;AK092701;AK127780;AK291008;AK308441;AL133288;AMYH01001775;BC016290;BC071563;BX648319;CB140971;CH471098;NM_152608 AAH71563;BAC03952;BAC87130;BAF83697;EAW69768;EAW69769;NP_689821;Q6IQ49 Hs.520192 1717113;1852132;2129402;5014023;5015961;5037552 AL010050;D13S1553;D15S1477;D8S2279;RH121475;SHGC-76446 C1orf55;FLJ35382;RP4-671D7.1;dJ671D7.1 OTTHUMP00000035611;OTTHUMP00000035612;UPF0667 protein C1orf55;hypothetical protein LOC163859;protein SDE2 homolog APPROVED protein-coding ENSG00000143751 26643 08180 VALIDATED 1316372 SDF2 stromal cell-derived factor 2 The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011] 17 17 17 q11.2 23834634 23847960 - 23999734 24013060 - 26975374 26989207 - 1580863;6480464 8918255;15489334;12477932;19479237;19513569;19615732;12107413;15576338;22190034 6388 K7ELH6;K7ELI9;Q6IBU4;Q99470 ABBA01015050;ABBA01015051;AC005726;AC010761;AK310890;AMYH01008280;AW026433;BC000500;BC001406;BQ056236;BT006709;CD673481;CH471159;CR456708;D50645;NM_006923;NR_045585 AAH00500;AAH01406;AAP35355;ABM82916;ABM86106;BAA09312;CAG32989;EAW51121;EAW51122;EAW51123;EAW51124;NP_008854;Q99470 Hs.514036 1680908;1681791;1689131;2219680 RH68278;RH79803;RH80441;SDF2_3858 FLJ17932 OTTHUMP00000163531;SDF-2;stromal cell-derived factor 2 APPROVED protein-coding ENSG00000132581 10675 04243 602934 REVIEWED 1344755 SDCCAG8 serologically defined colon cancer antigen 8 This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010] 1 1 1 q43 216706118 216951200 + 241485943 241730016 + 243419307 243663393 + 6480464 15489334;15146197;14702039;14654843;12559564;12477932;11042152;9610721;20835237;19913121;20628086;19626040;20056178;20379614;20421936;22895009;21926974;22095114;20301537;22626039;22190034 10806 A6NCS9;E9PFS7;Q86SQ7 ABBA01047215;ABBA01047216;ABBA01047217;AC092782;AC092806;AC096539;AF039690;AF161348;AF250731;AK023586;AK297105;AK299212;AK299249;AMYH01001884;BC015867;BC032454;BC041942;BC045832;CH471148;CN336494;DC326670;NG_027811;NM_006642 AAC18039;AAF28908;AAH32454;AAH45832;AAO27830;BAG59616;BAG61251;BAG61280;EAW77084;EAW77085;EAW77086;EAW77087;EAW77088;EAW77089;EAW77090;NP_006633;Q86SQ7 Hs.591530 1686108;1765903;1781576;1851672;1857026;2126885;2144329;2176214;5022200;5022450;5037552;5118674 AL009623;AL009684;D10S275;D11S3538;D1S1904E;D8S2279;G27428;L18426;RH12417;RH92199;SHGC-148050;SHGC-149315 BBS16;CCCAP;CCCAP SLSN7;HSPC085;NPHP10;NY-CO-8;SLSN7;hCCCAP OTTHUMP00000037913;antigen NY-CO-8;centrosomal colon cancer autoantigen protein;hCCCAP;serologically defined colon cancer antigen 8 APPROVED protein-coding ENSG00000054282 10671 10215 613524;613615 REVIEWED 1320780 SDF2L1 stromal cell-derived factor 2-like 1 22 22 22 q11.21 5814082 5816128 + 20326542 20328588 + 21996542 21998588 + 6480464 15489334;15461802;12975309;12477932;11162531;10591208;21145461;19710015;22863883;20811636;18781797;21139048;16396496;21628590;22190034 23753 Q9HCN8 AB043007;ABBA01055056;AF277316;AMYH01012636;AP000553;AY359118;BC132849;BC132851;BM560445;CH471095;CR456570;NM_022044 AAI32850;AAI32852;AAI39838;AAK69113;AAQ89476;BAB18277;CAG30456;CAK54600;CAK54899;EAW59467;NP_071327;Q9HCN8 Hs.303116 1649011;2126132 RH41995;RH48055 OTTHUMP00000198554;OTTHUMT00000075032;PWP1-interacting protein 8;SDF2-like 1;SDF2-like protein 1;dihydropyrimidinase-like 2;stromal cell-derived factor 2-like protein 1 protein-coding ENSG00000128228 10676 09614 607551 VALIDATED 2307455 SDHAF1 succinate dehydrogenase complex assembly factor 1 The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010] 19 19 19 q13.12 33200270 33201400 + 41177941 41179054 + 36486090 36487220 + 6480464;7240710 19465911;19328947;12477932;8889548;23174333;22995659 644096 A6NFY7 ABBA01018776;AF038458;AI954026;AMYH01009737;BC007205;BC064605;BC069054;BC137516;BC137517;BM695501;NG_016869;NM_001042631 A6NFY7;AAI37517;AAI37518;NP_001036096 Hs.356460 1854611;2122496 RH65900;WI-16129 LYRM8 LYR motif containing 8;LYR motif-containing protein 8;SDH assembly factor 1;succinate dehydrogenase assembly factor 1, mitochondrial APPROVED protein-coding ENSG00000205138 33867 252011;612848 REVIEWED 1606278 SDHAF2 succinate dehydrogenase complex assembly factor 2 This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010] 11 11 q12.2 60954173 60970805 + 61197597 61214239 + 6480464;7240710 19628817;16169070;12477932;19915015;20071235;7814027;8981955;20877624;20972721;22939629;21224366;18029348;21890473;21906983;20301715;23174333;23291190;23380393 54949 F5H4T4;F5H8E2;F8W679;M0QY91;M0QYN2;M0R060;Q9NX18 ABBA01003199;AI039966;AI660205;AK000494;AMYH01003678;AP003108;BC002331;CH471076;NG_023393;NM_017841 AAH02331;BAA91204;EAW73951;NP_060311;Q9NX18 Hs.313247 1340658;1647346;1657453;1725671;2122559 D11S1647;D11S2295E;G62044;RH79179;WI-12356 C11orf79;FLJ20487;PGL2;SDH5 OTTHUMP00000238097;OTTHUMP00000238130;OTTHUMP00000238131;OTTHUMP00000238508;SDH assembly factor 2;hSDH5;paraganglioma or familial glomus tumors 2;succinate dehydrogenase assembly factor 2, mitochondrial;succinate dehydrogenase subunit 5, mitochondrial APPROVED protein-coding 26034 07915 601650;613019 REVIEWED 731601 SDF4 stromal cell derived factor 4 This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011] 1 1 1 p36.33 1416207 1431366 + 1142151 1157274 - 1152288 1167447 - 6480464 18355758;17442889;16303743;15489334;14702039;12477932;10648803;9254016;8609160;8125298;21145461;17207965;19513569;19615732;19773279;19913121;20628086;21832049;17342744;21890473;21906983;21900206;22190034;23266954 51150 G3V1E2;H0Y3T6;Q96AA1 ABBA01016023;AF132749;AF153686;AF178986;AK000717;AK027277;AK055331;AK075352;AK126927;AK222521;AK223079;AK299810;AK315517;AL162741;AMYH01000117;BC006211;BC007625;BC008917;BC011244;BC022375;CH471183;DC405714;L79912;NG_030007;NM_016176;NM_016547 AAD51612;AAF44350;AAH06211;AAH07625;AAH08917;AAH11244;AAH22375;AAL40084;AAL75950;ADQ32709;BAB55012;BAC11563;BAD96241;BAD96799;BAG37898;BAG61683;EAW56271;EAW56272;EAW56273;EAW56274;EAW56275;EAW56276;EAW56277;NP_057260;NP_057631;Q9BRK5 Hs.42806 2185123 SHGC-74127 Cab45;RP5-902P8.6;SDF-4 45 kDa calcium-binding protein;OTTHUMP00000001752;OTTHUMP00000001753;OTTHUMP00000001754;OTTHUMP00000001755;SDF-4;calcium binding protein;stromal cell-derived factor 4 APPROVED protein-coding ENSG00000078808 24188 13113 614282 REVIEWED 4110650 SDHCP1 succinate dehydrogenase complex, subunit C pseudogene 1 18 18 63380332 63380840 + 66533754 66534262 + 100422600 ABBA01056275;AC096708;AMYH01009073;NG_026341 pseudo 31734 INFERRED 7241610 SDHCP2 succinate dehydrogenase complex, subunit C pseudogene 2 100128302 ABBA01021917;AL158040;AMYH01002946;NG_029201 pseudo 45177 INFERRED 7244039 SDHCP3 succinate dehydrogenase complex, subunit C pseudogene 3 100422591 ABBA01045096;AC066692;AMYH01010164;NG_023680 pseudo 45178 INFERRED 7241772 SDHCP4 succinate dehydrogenase complex, subunit C pseudogene 4 11 17457222 17457728 - 100422598 ABBA01061065;AC124798;AMYH01003415;NG_024319 pseudo 45179 INFERRED 1604191 SDHAP1 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 3 3 q29 197174372 197220417 - 195686792 195717150 - 14702039;12477932 255812 ABBA01002403;ABBA01033703;ABBA01033704;AC024937;AF088032;AK299148;AMYH01013793;BC071730;NR_003264 BAH12959 Hs.566872;Hs.596261 1651077;1685696;1689546;5024615;5096024 G33146;RH12738;RH63773;RH76040;RH93551 SDHAL1;SDHALP1 APPROVED pseudo ENSG00000185485 32455 PROVISIONAL 1350543 SDHDP1 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1 18 p11.21 12101993 12102470 - 10482792;10482792 100289186;29773 ABBA01074010;AMYH01008823;AP002414;NG_030063 pseudo 10684 INFERRED 1350059 SDHDP2 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2 7 7 7 q32.1 129866624 129867926 + 134779735 134781032 + 135129188 135130488 + 6480464 10482792;10482792 647081 AACC02000025;ABBA01001118;AC083871;AMYH01017955;CH236950;NG_009407 pseudo 10685 INFERRED 1348181 SDHDP3 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3 3 3 3 q26.3 167825846 167827152 + 170909566 170911180 + 169427060 169428366 + 10482792 29771 ABBA01058705;AC007849;AMYH01013640;NG_005647 pseudo 10686 INFERRED 1343144 SDHDP4 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4 3 3 3 p21.3 45861926 45863224 - 45899123 45900816 - 45924319 45925617 - 10482792 29770 ABBA01024720;AC005669;AC099782;AMYH01013130;NG_005646;NG_029472 pseudo 10687 INFERRED 1351623 SDHAP2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 3 3 q29 196867186 196904457 + 195384910 195415742 + 6480464 16344560;14702039;12477932;10737800 727956 ABBA01017565;AC069513;AC233280;AK057553;AK074764;AK316025;AMYH01013788;AMYH01013789;BC053551;BC062438;BC064564;BC073879;BE712485;BQ445981;DA457940;NR_003265 BAH14396 Hs.596261 1651077;1674442;1689546;1701250;1768811;1768813;5016447;5024615;5096024;5125769 A002C12;G19921;G33146;RH104253;RH12738;RH45269;RH63773;RH76040;SHGC-31380;STS-T71278 SDHAL2;SDHALP2 APPROVED pseudo ENSG00000242086 27408 VALIDATED 1604017 SDHDP6 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6 1 1 p36.11 25492440 25493731 - 25619849 25621160 - 11902138;10482792 29768 ABBA01059930;AL928711;AMYH01000380;NG_007494;NG_029351 pseudo 10689 INFERRED 1345071 SDHDP7 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7 1 1 p36.11 25597789 25599078 + 25725186 25726493 + 11902138 388606 ABBA01059932;AL031284;AL928711;AMYH01000387;NG_009208;NG_029352 pseudo 31410 INFERRED 1351853 SDHDP5 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5 2 q32.1 178882773 178883983 + 10482792;10482792;9847074 29769 ABBA01062241;AC011998;AMYH01011304;NG_031938 pseudo 10688 INFERRED 4892135 SDIM1 stress responsive DNAJB4 interacting membrane protein 1 6 6 167046843 167049242 - 166307330 166309725 - 21255413 100505705 Q6ZPB5 AK129633;AL590482;XM_003118900;XM_003120019;XM_003120538 BAC85201;Q6ZPB5;XP_003118948;XP_003120067;XP_003120586 Hs.722069 stress responsive DNAJB4 interacting membrane protein 1 protein-coding 38749 1343437 SDHAP3 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 5 5 5 p15.33 1609475 1631727 - 1625071 1647602 - 1572072 1594646 - 12477932 728609 ABBA01034201;AC091849;AMYH01014859;BC129998;BC150557;BC150558;NR_003263 Hs.379186 2131504;2174988;2217950 A002R37;SDHA_2868;STS-L21936 MGC179707;SDHACL;SDHAL pseudo 18781 VALIDATED 733521 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. [provided by RefSeq, Jul 2008] 5 5 p15 271356 309815 + 218356 256815 + 1580863;724604;1300048;2306881;6480464;6907045;7240710 7550341;16143825 21505157;15961414;16361598;16826196;17376234;17298551;16751257;16344560;15489334;15242332;14702039;12794685;12612654;12477932;11120693;10746566;8142412;8125298;7798181;23633203;19064571;19628817;19644226;19836344;20877624;20440543;20551992;22939629;20489732;19688755;16196087;20186120;22974104;22360420;23109135;18781797;21139048;21890473;21900206;21906983;21963094;21987572;20301352;20301382;20301403;22677546;17620599;22586326;20301715;21145461;19738201;22623428;10198260;22972948;22190034;22505724;22797925;22955521;23000077;23174333;23291190;23380393;23060355;23282968 6389 D6REB7;D6RFM5;E9PBJ5;H0Y8S2;H0Y8X1;P31040 AB208991;ABBA01034261;ABBA01034262;AC021087;AF171017;AK094879;AK131350;AK131478;AK225027;AK291311;AK295937;AK302524;AMYH01014821;BC001380;BC004328;BC041016;CA427314;CH471235;D30648;DA160919;DQ402982;L21936;NG_012339;NM_004168;S79641 AAA20683;AAB35332;AAD51006;AAH01380;AAH41016;ABD77315;BAA06332;BAD92228;BAF84000;BAG52946;BAG54767;BAG58722;BAG63797;EAW50982;EAW50983;EAW50984;NP_004159;P31040 Hs.440475 1791816;1792534;2131504;2174988;2217950;5024615;5096024 A002R37;G33146;PMC126239P2;PMC153210P1;RH63773;SDHA_2868;STS-L21936 CMD1GG;FP;PGL5;SDH1;SDH2;SDHF OTTHUMP00000115308;OTTHUMP00000221433;OTTHUMP00000221434;flavoprotein subunit of complex II;succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial;succinate dehydrogenase complex flavoprotein subunit APPROVED protein-coding ENSG00000073578 10680 02914 252011;256000;600857;613642;614165 REVIEWED 1352696 SDK1 sidekick cell adhesion molecule 1 7 7 7 p22.2 3309584 4277798 + 3307606 4275158 + 3341080 4308632 + 1580863;6480464 22889411;17307840;16344560;15213259;14702039;12230981;9110174;8619474;20562105;19197348;19851296;20198315;20379614;20398908;23314748;15231748;21150319;23251661 221935 F8W6X9;H7C255;Q7Z5N4 AACC02000053;ABBA01039403;ABBA01039404;ABBA01039405;ABBA01039406;ABBA01039407;ABBA01039408;ABBA01039409;ABBA01039410;ABBA01039411;ABBA01039412;ABBA01039413;ABBA01039414;ABBA01039415;AC004935;AC004984;AC011284;AC015968;AC017000;AC069286;AC073316;AC073550;AC079231;AC092427;AF131799;AK055987;AK055988;AK074077;AK074083;AL833354;AMYH01016985;AMYH01016986;AMYH01016987;AY310398;CH236953;CH471144;DB065853;DB454012;NM_001079653;NM_152744 AAP75619;BAB71066;BAB84903;BAB84909;EAW87286;EAW87287;EAW87288;NP_001073121;NP_689957;Q7Z5N4 Hs.653013 1335645;1649140;1649710;1652815;1658127;1659888;1660335;1661946;1664479;1668883;1674729;1686812;1697322;1701392;1704246;1713355;1739897;1749319;1761451;1771520;1786304;1786308;1847498;1848674;1849662;2129536;2140255;2140370;2143738;2143837;2144382;2147067;2150556;2160183;2163947;2164922;2167922;2178278;2180748;2183774;2183776;2187317;5093052;7186407;7186496 A004G34;A006H07;A009E45;D7S2134E;D7S2236;D7S2391;D7S2424;D7S2649;D7S544E;D7S752;G20798;G32491;GDB:1317130;GDB:1317596;GDB:1317614;GDB:1317626;GDB:1318166;GDB:1318168;GDB:1318252;GDB:1318258;GDB:1318462;GDB:1318720;GDB:1318732;GDB:4585491;RH102158;RH104326;RH119531;RH11955;RH11998;RH16383;RH93095;SGC35203;SHGC-111082;SHGC-145460;SHGC-154026;SHGC-154245;SHGC-33107;SHGC-83254;STS-N20093;STS-N26031;WI-10377;WI-12220;WI-18580 FLJ31425 OTTHUMP00000200446;OTTHUMP00000200448;protein sidekick-1;sidekick homolog 1 (chicken);sidekick homolog 1, cell adhesion molecule APPROVED protein-coding ENSG00000146555 19307 07388 607216 VALIDATED 2303685 SDR16C6P short chain dehydrogenase/reductase family 16C, member 6, pseudogene 8 8 q12.1 57448181 57470478 - 57285627 57307924 - 6480464 19027726;16421571;23251661 442388 ABBA01041766;ABBA01041767;AC023464;AC103849;AMYH01018736;DN831106;NR_103832;XR_108906;XR_133492;XR_171732 Hs.632065 1703974;2113132 D8S2310;SHGC-77746 SDR16C6 APPROVED pseudo ENSG00000253542 35413 VALIDATED 1318463 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008] 1 1 p36.1-p35 17217804 17253252 - 17345217 17380665 - 1624151;1580863;1300048;2306881;6480464;6907134;6907045;7240710 11404820;16143825;21771581 15961414;2302193;19389109;19368708;19343621;19258401;19223516;19215943;19208735;19075037;19029228;18728283;18678321;18551016;18519664;18382370;18362451;18310297;18057081;17967865;17943698;17804857;17667967;17652212;17639058;17599579;17308434;17298551;17298303;17200167;17143317;17102080;16912137;16751257;16710414;16472267;16405730;16322339;16314641;15489334;15328326;15087120;14718574;14685938;14512425;12618761;12612654;12477932;12362046;12213855;12000816;11897817;19399650;8291026;7778269;7622059;2494655;12054535;19913121;20628086;20677014;21145461;18029348;18419787;19064571;19189136;19261994;19393419;19768395;19802898;19825962;19849834;19915015;20082856;20153743;20189936;20193854;20205103;20208144;20213850;20236688;20305538;20379614;20505258;20563860;20119652;20592014;20877624;20540712;20503330;22566194;20702724;21173220;20980436;20890271;21172883;21934479;22990118;22939629;19688755;22555179;22835832;21997692;18624398;21900206;21969497;22492777;23109135;21906983;21139048;21890473;22167067;21820839;21956414;22270996;22677546;20301715;22566157;22972948;23099648;23154831;22623428;22804613;22573489;23433498;23000077;23174333;23291190;22160509 6390 P21912;Q70SX8 ABBA01000262;ABBA01000263;AJ549502;AK312056;AL049569;AMYH01000295;BC007840;BF796275;BU554163;CH471134;D10245;DQ403007;M32246;NG_012340;NM_003000;U17248;U17886 AAA35708;AAA80581;AAA81167;AAH07840;ABD77140;BAA01089;BAG34992;CAE47739;EAW94828;EAW94829;NP_002991;P21912 Hs.465924 1658009 SHGC-74296 CWS2;FLJ92337;IP;PGL4;SDH;SDH1;SDH2;SDHIP OTTHUMP00000002396;iron-sulfur subunit of complex II;succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial APPROVED protein-coding ENSG00000117118 10681 01707 115310;171300;185470;606764;606864;612359 REVIEWED 1345704 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013] 11 11 q23 111462832 111471727 + 111957571 111966518 + 1580035;1302858;1580863;2306881;6480464;6907045;6907134;7240710 15572694;10657297;16143825;21771581 9533030;2302193;19399650;19393419;19343621;19289533;19258401;19240061;19239085;19223516;19215943;19205158;19075037;19072999;19029228;18840642;18826997;18728283;18678321;18561749;17804857;17727250;17667967;17639058;17599579;17576205;17526943;17308434;17298551;17298303;17227803;17102080;16797480;16322339;16314641;16303743;15623805;15531530;15489334;15365827;15328326;15066320;15032977;12883710;12811540;12782822;12696072;12612654;12477932;12114404;12111639;12007193;12000816;11897817;11605159;11526495;11391798;11391796;11343322;11323050;11156372;10482792;7814027;7566098;1301144;18551016;18211978;20111059;19913121;20628086;21862453;17973943;19546167;19584903;19768395;19802898;19825962;19915015;20153743;20205103;20208144;20236688;20505258;20877624;22566194;22584711;11397905;11827452;14557476;15064708;20967262;21565294;23291190;21792967;22170724;21561462;21619495;22456618;21945342;21937622;22270996;20301715;23174333;23099648;22573489 6392 E9PIC0;E9PIG3;E9PK73;E9PQI9;G3V173;H0YD41;H0YD96;O14521 AA374642;AB006202;AB026906;ABBA01039805;AI753083;AK075360;AMYH01004034;AP002007;BC005263;BC009574;BC012603;BC015188;BC015992;BC022350;BC070307;BC071755;BC071756;BE567994;BF211358;BG492859;BQ000657;BQ932668;BT007238;BX419391;CD105572;CH471065;CR456932;NG_012337;NM_001276503;NM_001276504;NM_001276506;NM_003002;NR_077060 AAH05263;AAH09574;AAH12603;AAH15188;AAH15992;AAH22350;AAH70307;AAH71755;AAH71756;AAP35902;ABM83627;ABM87291;BAA22054;BAA81889;BAG52120;CAG33213;EAW67181;EAW67182;EAW67183;NP_001263432;NP_001263433;NP_001263435;NP_002993;O14521 Hs.356270;Hs.744039 1669935;1688610;1736162;2153457;2164636 A002R25;D11S2246E;RH64925;RH80714;WI-11979 CBT1;CII-4;CWS3;PGL;PGL1;QPs3;SDH4;cybS CII-4;OTTHUMP00000234720;OTTHUMP00000234721;OTTHUMP00000234722;OTTHUMP00000234723;OTTHUMP00000234724;OTTHUMP00000234725;OTTHUMP00000234726;QPs3;cybS;succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial;succinate dehydrogenase complex subunit D;succinate dehydrogenase ubiquinone cytochrome B small subunit;succinate-ubiquinone oxidoreductase cytochrome b small subunit;succinate-ubiquinone reductase membrane anchor subunit APPROVED protein-coding ENSG00000204370 10683 04069 114900;168000;171300;602690;606864;612359;615106 REVIEWED 5688458 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 16 p12.2 22176904 22201714 + 15616553;19027726 100288072 A6NKP2;R4GN39 AC009019;XM_002343452;XM_003119658 A6NKP2;XP_002343493;XP_003119706 1755143 SHGC-142068 Putative 3-beta-HSD family protein ENSP00000330812;putative short-chain dehydrogenase/reductase family 42E member 2;short chain dehydrogenase/reductase family 42E, member 2 protein-coding 35414 1354327 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013] 1 1 q23.3 159550790 159601165 + 161284166 161334541 + 1599507;1580863;2306881;6480464;6907045;7240710 11062460;16143825 9533030;2302193;19343621;19258401;19223516;19029228;18728283;17804857;17667967;17599579;17298551;17250422;17102080;16405730;16322339;15665296;15489334;15342702;12658451;12612654;12477932;11897817;11404820;9851882;9714607;21106325;19064571;19546167;19768395;19915015;20153743;20208144;20236688;20877624;22566194;21268708;16196087;22589738;21139048;21900206;21906983;22351710;20301715;15479192;16344560;16885361;17376234;21988832;6934864;7592812;23174333;22573489 6391 D6RBX6;Q99643 AB201252;AB211234;AB211235;AB212048;ABBA01016590;ABBA01016591;ABBA01016592;AF039594;AK131051;AK293687;AK294305;AL592295;AMYH01001457;BC012735;BC020808;BC033626;BC066329;BG724095;CH471121;CR457102;D49737;DA751501;NG_012767;NM_001035511;NM_001035512;NM_001035513;NM_001278172;NM_003001;NR_103459;U57877 AAB41838;AAC27993;AAH20808;AAH33626;AAH66329;BAA31998;BAE46977;BAE46978;BAE46979;BAE46980;BAG57126;BAG57586;CAG33383;EAW52597;EAW52598;EAW52599;EAW52600;EAW52601;EAW52602;EAW52603;EAW52604;NP_001030588;NP_001030589;NP_001030590;NP_001265101;NP_002992;Q99643 Hs.444472 1651527;1688136;1692002;2117176 AL033654;RH65492;SHGC-31694;WI-11628 CYB560;CYBL;PGL3;QPS1;SDH3 OTTHUMP00000032375;OTTHUMP00000217417;OTTHUMP00000217418;OTTHUMP00000217419;OTTHUMP00000217420;QPs-1;cytochrome B large subunit of complex II;integral membrane protein CII-3;integral membrane protein CII-3b;succinate dehydrgenase cytochrome b;succinate dehydrogenase 3, integral membrane subunit;succinate dehydrogenase complex subunit C;succinate dehydrogenase cytochrome b560 subunit, mitochondrial;succinate-ubiquinone oxidoreducatase cytochrome B large subunit;succinate-ubiquinone oxidoreductase cytochrome B large subunit APPROVED protein-coding 10682 03878 602413;605373;606764;606864 REVIEWED 1604728 SDR16C5 short chain dehydrogenase/reductase family 16C, member 5 RDHE2 belongs to a family of short-chain alcohol dehydrogenases/reductases that catalyze the first and rate-limiting step that generates retinaldehyde from retinol (Matsuzaka et al., 2002 [PubMed 12372410]).[supplied by OMIM, Mar 2008] 8 8 8 q12.1 53202994 53224037 - 57375122 57395795 - 57212570 57233241 - 6480464 15457346;14702039;12477932;12372410;20546612;12407145;18926804;19102727;20379614;18391950;18391951;20881960 195814 B3KT84;G3V145;Q8N3Y7 AB083038;ABBA01041764;ABBA01041765;AC103849;AK057667;AK095159;AK294634;AMYH01018735;AY444559;BC037219;BC064525;CH471068;NM_138969 AAH37219;AAH64525;AAS68535;BAB71545;BAB91014;BAG52996;BAG57813;EAW86780;EAW86781;EAW86782;NP_620419;Q8N3Y7 Hs.170673 2113114;2219616 D8S2301;RDH-E2__5473 FLJ33105;RDH#2;RDH-E2;RDHE2 EPHD-2;OTTHUMP00000226432;OTTHUMP00000226433;OTTHUMP00000226434;epidermal retinal dehydrogenase 2;epidermal retinol dehydrogenase 2;retSDR2;retinal short chain dehydrogenase reductase;retinal short-chain dehydrogenase reductase 2;short-chain dehydrogenase/reductase family 16C member 5 APPROVED protein-coding 30311 12351 608989 VALIDATED 1321280 SDK2 sidekick cell adhesion molecule 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 67913645 68224743 - 68845407 68945808 - 71330523 71640227 - 6480464 19165232;16625196;15489334;15213259;14702039;12477932;12230981;10819331;9310325;15203218;22990118;21139048 54549 H7C2P2;Q58EX2 AB040947;ABBA01028856;ABBA01028857;ABBA01028858;ABBA01028859;ABBA01028860;ABBA01028861;ABBA01028862;ABBA01028863;ABBA01028864;ABBA01160341;AC032019;AC087301;AC124804;AK001694;AK074994;AK091827;AL137357;AMYH01008619;AMYH01008620;AMYH01008621;AMYH01008622;BC045763;BC066363;BQ182396;CD629657;CH471099;NM_001144952 AAH45763;AAH66363;AAI72275;AAI72562;BAA91841;BAA96038;BAG52422;CAB70709;EAW89126;EAW89127;EAW89128;EAW89129;NP_001138424;Q58EX2 Hs.435719 1335817;1697048;1747647;1755705;1765497;1783568;1785484;2109813 D17S1831;G65527;RH102003;SDK2_9798;SHGC-142543;SHGC-148978;SHGC-152449;SHGC-154962 FLJ10832;KIAA1514 Drosophila sidekick-like;OTTHUMP00000202279;chicken sidekick 2-like;protein sidekick-2;sidekick homolog 2 APPROVED protein-coding ENSG00000069188 19308 06239 607217 PROVISIONAL 1349913 SDU skeletal dysplasia (unspecified) 6393 10692 1346173 SEA S13 erythroblastosis oncogene homolog (avian) 6395 10695 165110 1626595 SEBOX SEBOX homeobox Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008] 17 17 17 q11.2 23553047 23554023 - 23715417 23719114 - 26691290 26692265 - 6480464 10922053;19913121;20628086 645832 C9JDG5;F5GX75;Q9HB31 ABBA01015060;AC002094;AF284337;AMYH01008277;CH471159;NM_001080837 AAG14458;EAW51081;NP_001074306;Q9HB31 Hs.728714 1678371;1680274;1694928;1741909;1790371;1792904;1792906 G44355;GDB:186726;PMC16794P1;PMC16794P2;RH11584;RH71464;VTN OG-9;OG9;OG9X OTTHUMP00000237305;homeobox OG-9;homeobox protein SEBOX;skin-, embryo-, brain- and oocyte-specific homeobox APPROVED protein-coding ENSG00000109072 32942 610975 VALIDATED 1348108 SDPR serum deprivation response This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009] 2 2 2 q32-q33 186294205 186307180 - 192407281 192420226 - 192699031 192712006 - 1580863;6480464 2390065;10191091;19525939;16189514;15815621;15489334;15146197;12665801;12477932;9566962;8241023;8012384;16344560;18332105;19722192;8889548;21913217;18029348;21139048 8436 O95810 ABBA01062401;AC098872;AF085481;AK026943;AK290378;AMYH01011355;BC016475;BM971534;BQ025694;BX113402;CH471058;CN286178;DA561006;NM_004657;R55388;Z55164 AAD17795;AAH16475;AAY24078;ABM82366;ABM85543;BAF83067;EAX10833;NP_004648;O95810 Hs.26530 1644570;1664132;1777899;1851385;2162377 A004T07;RH45862;RH66552;SGC38126;WI-12497 CAVIN2;PS-p68;SDR;cavin-2 OTTHUMP00000205484;phosphatidylserine binding protein;phosphatidylserine-binding protein;serum deprivation-response protein APPROVED protein-coding ENSG00000168497 10690 09470 606728 REVIEWED 1319586 SDR39U1 short chain dehydrogenase/reductase family 39U, member 1 14 14 14 q12 4773608 4776643 - 23978812 23981847 - 24908972 24912007 - 6480464 19027726;15489334;14702039;12477932;21139048;21890473 56948 F6RWC2;G3V2Z6;G3V3J5;G3V451;G3V4N6;G3V4Z0;G3V5T1;H0YJ71;Q86TZ5;Q9NRG7 ABBA01061345;AF226050;AK123513;AL132800;AMYH01005612;BC000989;BC008566;BI256676;BX161384;CH471078;NM_020195 AAF86950;AAH00989;CAD61875;EAW66009;EAW66010;EAW66011;EAW66012;NP_064580;Q9NRG7 Hs.643552 1647214;1672218;1674270;1736450;2157220;5124711 A002H45;D14S710E;HSCZSG032;RH48917;RH76482;WI-15548 C14orf124;HCDI OTTHUMP00000245807;epimerase family protein SDR39U1;short-chain dehydrogenase/reductase family 39U member 1 protein-coding ENSG00000100445 20275 16598 VALIDATED 1353467 SEC11B SEC11 homolog B (S. cerevisiae) 8 8 8 q11.23 51425534 51426425 - 55597892 55626571 - 55435050 55435941 - 21906983;21987572 157708 P0C7V7 ABBA01041745;AC091076;AMYH01018727;NG_008902 P0C7V7 SEC11L2;SPCS4B pseudo 31884 INFERRED 1601729 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 16 16 16 q23.3 66329095 66343762 - 80588752 80602594 - 82031251 82045093 - 6480464 19027726;12477932;8889548;17207965;21906983 93517 E9PQ06;Q8WUS8 ABBA01016952;AC092142;AF161368;AK026740;AK315652;AMYH01007855;BC019670;BX482154;CB851753;CH471114;NM_145168 AAF28928;AAH19670;ABM82212;ADQ31772;BAG38018;EAW95521;EAW95522;EAW95523;NP_660151;Q8WUS8 Hs.87779 1665456 RH68058 HSPC105 NAD(P) dependent steroid dehydrogenase-like;OTTHUMP00000232002;short-chain dehydrogenase/reductase family 42E member 1 protein-coding ENSG00000184860 29834 17118 VALIDATED 7174888 SEC13P1 SEC13 homolog (S. cerevisiae) pseudogene 1 3 p22.3 33075349 33076299 + 100131671 ABBA01024912;AC112211;AMYH01013067;NG_009005;NG_022244 1743317;2147975 G16542;GDB:314877 pseudo 44529 INFERRED 732810 SDR9C7 short chain dehydrogenase/reductase family 9C, member 7 This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010] 12 12 12 q13.3 56970828 56982079 - 55603884 55614312 - 57316938 57328189 - 6480464 19027726;12477932;12234675;14702039;19703561;18029348;23341893 121214 Q8NEX9 ABBA01008445;AC026120;AK122782;AMYH01004510;AY044434;BC101551;BC101553;CH471054;NM_148897 AAI01552;AAI01554;AAK95856;BAG53726;EAW96967;NP_683695;Q8NEX9 Hs.380178 FLJ16333;MGC126600;MGC126602;RDHS;SDR-O;SDRO OTTHUMP00000244864;RDH-S;orphan short-chain dehydrogenase / reductase;orphan short-chain dehydrogenase/reductase;retinol dehydrogenase similar protein;short-chain dehydrogenase/reductase family 9C member 7 APPROVED protein-coding ENSG00000170426 29958 15235 609769 REVIEWED 6770065 SEC14L1P1 SEC14-like 1 pseudogene 1 11 p11.2 43918853 43921438 + 729799 AA559282;ABBA01060774;AC087521;AMYH01003521;AW070233;BG112955;NR_026952 Hs.368920 pseudo 44189 PROVISIONAL 734053 SDS serine dehydratase This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008] 12 12 q24.13 112314633 112326075 - 113830250 113841692 - 1300048;1580863;6480464;6907045;7240710 2674117;18289528;14646100;12477932;10347152;8889548;435568;163697;163593;31199;15689518;18342636;18029348;23112234 10993 F8VW93;F8VXS0;P20132;Q8WW81 ABBA01019959;AC010178;AK292760;AMYH01004761;BC020750;BG534053;BG566257;BU740747;CH471054;J05037;NM_006843 AAA36604;AAH20750;BAF85449;EAW98054;EAW98055;EAW98056;NP_006834;P20132 Hs.439023 1712410;2114445;2121500;5022578;5022651 D11S2921;D1S1423;G54238;STS-J05037;WI-12136 SDH L-serine ammonia-lyase;L-serine deaminase;L-serine dehydratase;L-serine dehydratase/L-threonine deaminase;L-threonine dehydratase;OTTHUMP00000241529;TDH APPROVED protein-coding ENSG00000135094 10691 01633 182128;260400 REVIEWED 1319395 SDSL serine dehydratase-like 12 12 12 q24.13 113487476 113503320 + 112344599 112360464 + 113860216 113876081 + 1580863;6480464 16189514;15489334;12477932;20877624;18342636;21890473 113675 F8VYZ3;F8VZ97;H0YIA2;H0YID3;Q96GA7 ABBA01019960;AC009773;AC010178;AF134473;AMYH01004761;BC009849;BC091479;CH471054;NM_138432 AAH09849;AAH91479;AAP97250;ABM84069;ABM87428;EAW98057;EAW98058;EAW98059;NP_612441;Q96GA7 Hs.337594 1712508 G54204 SDH 2;SDS-RS1;TDH L-serine deaminase;L-serine dehydratase/L-threonine deaminase;L-threonine dehydratase;OTTHUMP00000241522;OTTHUMP00000241523;OTTHUMP00000241524;SDH;serine dehydratase 2;serine dehydratase related sequence 1;serine dehydratase-like protein-coding ENSG00000139410 30404 11542 PROVISIONAL 1348413 SEC11C SEC11 homolog C (S. cerevisiae) 18 18 18 q21.32 53525021 53543961 + 54958105 54977044 + 56807125 56826064 + 1580863;6480464 12477932;15489334;17207965;9631292;21890473;21906983 90701 K7EJQ7;Q9BY50 ABBA01056162;ABBA01056163;AC021241;AF212233;AK295346;AK307127;AK314107;AMYH01009031;BC009703;CH471096;NM_033280 AAH09703;AAK14919;ADQ33210;BAG36800;BAG58315;EAW63089;EAW63090;NP_150596;Q9BY50 Hs.45107 1775699;5017227 G38154;STS-N41002 SEC11L3;SPC21;SPCS4C OTTHUMP00000163649;SEC11-like 3;SEC11-like protein 3;SPase 21 kDa subunit;microsomal signal peptidase 21 kDa subunit;signal peptidase complex catalytic subunit SEC11C protein-coding ENSG00000166562 23400 15310 PROVISIONAL 1346355 SEC14L3 SEC14-like 3 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 22 22 22 q12.2 14654929 14667748 - 29185219 29198017 - 30855216 30868034 - 1580863;6480464 15040456;15033454;12757856;12477932;10591208;8889548 266629 B5MC44;F8WB08;H7C1Y0;Q495V9;Q6XCI7;Q9UDX4 ABBA01055297;AC004832;AK131358;AK298079;AMYH01012707;AY158086;AY240872;BC069641;BC101001;BC101002;BC101003;BC101004;BE219833;BQ186227;BU584962;CH471095;EL947765;NG_027515;NM_001257378;NM_001257379;NM_001257382;NM_174975 AAF19258;AAH69641;AAI01002;AAI01003;AAI01004;AAI01005;AAO21870;AAO52677;BAG54768;BAG60367;EAW59893;EAW59894;NP_001244307;NP_001244308;NP_001244311;NP_777635;Q9UDX4 Hs.505601 1852223;2182774;5015861;7185938 D10S16;RH79242;SGC38334 MGC119366;MGC119367;MGC119368;TAP2 OTTHUMP00000199510;OTTHUMP00000199511;OTTHUMP00000199512;OTTHUMP00000199582;OTTHUMP00000199583;SEC14-like protein 3;SEC14p-like protein TAP2;tocopherol-associated protein 2 APPROVED protein-coding ENSG00000100012 18655 15311 612824 REVIEWED 1605420 SEC14L5 SEC14-like 5 (S. cerevisiae) 16 16 16 p13.3 5217701 5278537 + 4948319 5009157 + 5008318 5069156 + 6480464 9455477;23319000 9717 K7ERV2;O43304 AB007880;ABBA01026794;ABBA01026795;ABBA01026796;ABBA01026797;ABBA01026798;AC007011;AC026458;AC027687;AMYH01007109;AMYH01007110;BC045685;CH471112;NM_014692 AAI66626;BAA24850;EAW85247;NP_055507;O43304 Hs.512856 1646452;1651453 RH68422;SHGC-60724 KIAA0420;PRELID4B SEC14-like protein 5 protein-coding ENSG00000103184 29032 VALIDATED 5132081 SEC14L6 SEC14-like 6 (S. cerevisiae) 22 22 22 q12.2 14720696 14742385 - 29250984 29272669 - 30920917 30942669 - 15146197 730005 B5MCN3;H7C077 ABBA01055300;AC004832;AMYH01012707;BG163986;BX283471;CN413798;NM_001193336 B5MCN3;NP_001180265 Hs.505605 OTTHUMP00000199584;SEC14-like 6;putative SEC14-like protein 6 protein-coding 40047 INFERRED 1344783 SEC11A SEC11 homolog A (S. cerevisiae) This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012] 15 15 15 q25.3 61638279 61685260 - 83013779 83060678 - 85212775 85259674 - 6480464 17353931;15489334;12477932;8125298;16169070;9631292;10737800;15342556;16341674;19261089;8889548;18781797;21139048;21890473;21906983;21853274;22505724 23478 B4DUL4;H0YK72;H0YK83;H0YKT4;H0YNA5;H0YNG3;H0YNX5;P67812 AA151795;AB209437;ABBA01052944;ABBA01052945;ABBA01052946;ABBA01052947;AC087732;AC115102;AF061737;AF087906;AF090315;AF108945;AI051931;AK223224;AK300693;AK314146;AMYH01006870;BC000359;BC014508;BF920344;BG703137;BI545042;BM763471;BM904189;BM985046;BP370483;BU540274;CD356160;CF455691;CH471101;CR457127;CT001736;DA963119;DC360846;FN058159;HY170714;NM_001271918;NM_001271919;NM_001271920;NM_001271921;NM_001271922;NM_014300;NR_073518 AAC36354;AAD17526;AAD19640;AAH00359;AAH14508;AAP97204;ABM82752;BAD92674;BAD96944;BAG36834;BAG62376;CAG33408;EAX01952;EAX01953;EAX01954;EAX01955;EAX01956;NP_001258847;NP_001258848;NP_001258849;NP_001258850;NP_001258851;NP_055115;P67812 Hs.9534 5014711 SHGC-35901 1810012E07Rik;SEC11L1;SPC18;SPCS4A;sid2895 SEC11-like 1;SEC11-like protein 1;SPase 18 kDa subunit;endopeptidase SP18;microsomal signal peptidase 18 kDa subunit;sec11-like 1 (s. cerevisiae);signal peptidase complex (18kD);signal peptidase complex catalytic subunit SEC11A protein-coding ENSG00000140612 17718 07503 REVIEWED 6769934 SEC1P secretory blood group 1, pseudogene 19 q13.33 49141296 49185502 + 6480464 10723735;9219535;18067503;20210993;7876235 653677 AA922053;ABBA01032974;ABBA01032975;ABBA01032976;ABBA01032977;ABBA01032978;AC008888;AK301046;AK301238;AMYH01009904;AMYH01009905;AMYH01009906;AMYH01009907;D87946;D87947;DC353776;NR_004401;U17895 BAG62808;BAH13396 Hs.443160 5112293 RH103095 SEC1 pseudo 44149 VALIDATED 736725 SEC14L2 SEC14-like 2 (S. cerevisiae) This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008] 22 22 q12.2 29122933 29149828 + 30792930 30821291 + 1580863;6480464 7364757;11444841;10829015;11226224;19305383;19190344;18676680;17334589;16267002;15998911;15790807;15461802;15033454;14702039;12972248;12757856;12477932;12454003;12429094;11258795;10591208;10574461;9847074;9036970;8889548;8125298;19170196;19625176;19692168;19909011;21890473;22747683;23129185 23541 B3KRD8;C9IYR5;C9JTM4;C9JYY7;C9JZI9;F8WED8;F8WEE7;O76054 AA610131;AB033012;ABBA01055295;ABBA01055296;ABBA01055297;AC004832;AK056163;AK091402;AK223587;AK296540;AK303751;AK314390;AL096881;AMYH01012707;AY203959;AY927434;AY927435;AY927436;AY927437;AY927438;AY927439;AY927441;BC048337;BC058915;BM680990;BU734336;CH471095;CR456571;DC375707;NM_001204204;NM_012429;NM_033382 AAF19256;AAH58915;AAP34482;BAA86500;BAD97307;BAG37015;BAG52350;BAH12384;BAH14037;CAB51405;CAG30457;CAK54601;CAK54900;EAW59885;EAW59886;EAW59887;EAW59888;NP_001191133;NP_036561;NP_203740;O76054 Hs.335614 1682305;1693680;2173741 A004Y09;D22S1023E.1;SHGC-58605 C22orf6;KIAA1186;KIAA1658;MGC65053;SPF;TAP;TAP1 OTTHUMP00000198972;OTTHUMP00000198973;OTTHUMP00000198974;OTTHUMP00000199021;SEC14-like protein 2;alpha-tocopherol-associated protein;hTAP;sec14 (s. cerevisiae)-like 2;squalene transfer protein;supernatant protein factor;tocopherol-associated protein APPROVED protein-coding ENSG00000100003 10699 06344 607558 REVIEWED 1320418 SEC14L1 SEC14-like 1 (S. cerevisiae) The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011] 17 17 17 q25.2 71732575 71808664 + 72648647 72724778 + 75084725 75213183 + 1580863;6480464 8697811;16381901;16344560;15489336;14702039;12477932;11707779;11230166;11076863;9110174;8619474;16368544;19734545;22683750;21139048;21890473;21906983;21963094;22053931;23000965;23083832 6397 A5PLM6;D5G3K4;K7EIJ7;K7EJ08;K7EJJ2;K7ELM0;K7ELU0;K7EPE4;K7EQK4;K7ERB3;K7ESI4;Q59HE8;Q7Z3R7;Q92503 AB208811;ABBA01028714;ABBA01028715;ABBA01028716;ABBA01028717;ABBA01028718;ABBA01028719;ABBA01028720;AC015815;AC068594;AK094232;AK130317;AK290913;AK293206;AK293867;AK303328;AMYH01008653;AMYH01008654;BC136523;BC136525;BC142979;BM802278;BX537448;CH471099;D67029;DA024354;DB040556;DB040580;FM995495;FM995496;FM995497;FM995498;NM_001039573;NM_001143998;NM_001143999;NM_001144001;NM_001204408;NM_001204410;NM_003003;U79284 AAB50220;AAI36524;AAI36526;AAI42980;AAI43078;AAI50322;BAA11048;BAC85325;BAD92048;BAF83602;BAG56746;BAG57258;BAG64393;CAD97690;CAL38341;CAX33889;CAX33890;CAX33891;CAX33892;EAW89469;EAW89470;NP_001034662;NP_001137470;NP_001137471;NP_001137473;NP_001191337;NP_001191339;NP_002994;Q92503 Hs.464184 1644054;1686845;1695980;1734510;1756539;2122291;5014435 D17S1453E;G38326;RH36193;RH78798;RH98794;SHGC-143569;SHGC-82728 DKFZp686C06176;PRELID4A;SEC14L SEC14-like protein 1 APPROVED protein-coding ENSG00000129657 10698 03295 601504 REVIEWED 1344614 SEC13 SEC13 homolog (S. cerevisiae) The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008] 3 3 p25-p24 10317615 10337855 - 10342615 10362858 - 1580863;6480464;6907045 18692470;11252894;7987303;11031247;18713835;18160040;16407955;16189514;21145461;15489334;14702039;14517296;12665801;12477932;10788476;10747849;9110174;8619474;8125298;7876304;15146057;16799092;17360435;19682973;22939629;22863883;18457437;18781797;20360068;21139048;21890473;15146197;19054391;22331354;20676042;22586326;19338310;21988832;23000965;23455922 6396 A8MXL6;B4DXJ1;C9J0S2;C9JBJ5;C9JIB6;E7ERC8;P55735 AA682381;AB209554;ABBA01020379;AC022384;AF052155;AK095629;AK223019;AK294662;AK301999;AMYH01012969;BC002634;BC006167;BC091506;BE621430;CH471055;CN344033;DB564012;EF036494;L09260;NM_001136026;NM_001136232;NM_001278946;NM_030673;NM_183352;NR_024272;NR_024273 AAH02634;AAH06167;AAH91506;ABO65080;BAD92791;BAD96739;BAG57832;BAG63403;EAW64077;EAW64078;NP_001129498;NP_001129704;NP_001265875;NP_109598;NP_899195;P55735 Hs.166924 1687878;1687880;1730918;1735208;1741877;2109815;2139684;5015961 D15S1477;D3S1350;D3S2866E;GDB:186267;SEC13L1_8614;SHGC-2675;SHGC-2687;T15986 D3S1231E;SEC13L1;SEC13R;npp-20 OTTHUMP00000158854;OTTHUMP00000158855;OTTHUMP00000195525;OTTHUMP00000195526;OTTHUMP00000195527;SEC13-like 1 isoform;SEC13-like protein 1;SEC13-related protein;protein SEC13 homolog APPROVED protein-coding ENSG00000157020 10697 02538 600152 REVIEWED 1343842 SEC14L4 SEC14-like 4 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] 22 22 22 q12.2 14684603 14701411 - 29214900 29231682 - 30884889 30901698 - 1580863;6480464 15461802;15033454;14702039;12757856;12477932;10591208;8889549;20012369;21139048;21906983;19322201 284904 B2RMR2;B3KRP9;B3KSF0;D7F472;F8WEM2;G3V1L4;Q9UDX3 ABBA01055299;AC004832;AK092002;AK093418;AK093448;AMYH01012707;AY158085;BC136358;BC136359;BC139912;CH471095;CR456346;FJ824055;NM_001161368;NM_174977;T72380 AAF19259;AAI36359;AAI36360;AAI39913;AAO21869;ACR78114;BAG52461;BAG52712;BAG52719;CAG30232;CAK54647;CAK54946;EAW59895;EAW59896;EAW59897;NP_001154840;NP_777637;Q9UDX3 Hs.517541 2109817;2176311;5015861;5037552;7185938 D10S16;D8S2279;SEC14L4__5568;WI-17157 TAP3 OTTHUMP00000199506;OTTHUMP00000199507;SEC14-like protein 4;SEC14p-like protein TAP3;tocopherol-associated protein 3 APPROVED protein-coding ENSG00000133488 20627 15312 612825 REVIEWED 1354294 SEC16A SEC16 homolog A (S. cerevisiae) This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013] 9 9 9 q34.3 109849015 109891964 - 138454369 138497328 - 139334548 139377507 - 737633;6480464 12477932 17428803;17192411;17081983;17005010;16964243;15489334;15302935;15164053;14743216;14702039;12168954;9205841;8889548;21145461;19638414;21045114;21297633;16751776;21697133;20811636;21768384;19542561;22586326;18457437;21139048;21628590;23383273;22347445;22424054;22543157;22740409;22792062;22863883;19380743 9919 F1T0I1;J3KNL6;O15027;Q6ZP13;Q8N9G1 AB002308;AB593115;AB621812;ABBA01022708;ABBA01022709;AK074565;AK094041;AK094756;AK124843;AK126215;AK129634;AK130247;AK301371;AK302210;AK316194;AL592301;AMYH01021862;AMYH01021863;BC001404;BC008332;BC016873;BC028183;BC040710;BC051290;BC070488;BC098454;BC125018;BC125019;BM975558;DQ593401;DQ595727;DQ903855;NM_001276418;NM_014866 AAH01404;AAH08332;AAH16873;AAH28183;AAH98454;AAI25019;AAI25020;ABI78944;BAA20769;BAC04415;BAC11063;BAC85312;BAG62913;BAG63568;BAH14565;BAJ84055;BAK64148;NP_001263347;NP_055681;O15027 Hs.522500;Hs.668588 1651081;1770760;1854415;2114769;5022651 D11S2921;RH77981;RH78813;WI-11990;WI-5789 FLJ26737;KIAA0310;RP11-413M3.10;SEC16L;p250 OTTHUMP00000022589;OTTHUMP00000022592;OTTHUMP00000022593;protein SEC16 homolog A;protein transport protein Sec16A APPROVED protein-coding ENSG00000148396 29006 612854 REVIEWED 737396 SEC16B SEC16 homolog B (S. cerevisiae) SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009] 1 1 1 q25.2 151007141 151047948 - 176164865 176205673 - 177898242 177939050 - 6480464 19214710;19079260;17192411;16189514;15302935;14702039;12477932;11752456;11605020;11572484;20616199;20712903;20724581;20816195;21102462;20935630;19812171;19851340;20215397;21768384;22355596;23894747;22344221 89866 E9PK14;H0YE70;Q96JE7 AB063357;ABBA01027845;ABBA01027846;ABBA01027847;AK074451;AK090971;AK093939;AK098627;AK314585;AL160007;AL356279;AMYH01001522;AV697113;BC009106;CH471067;EF125213;NM_033127 AAH09106;ABN42197;ADZ15970;BAB61035;BAC05357;EAW91010;EAW91011;EAW91012;EAW91013;EAW91014;EAW91015;NP_149118;Q96JE7 Hs.149540 1643994;1707838;1771986;2107547 RGPR__6887;SHGC-75947;SHGC-75957;SHGC-82150 DKFZp686C2486;FLJ23871;FLJ25761;FLJ33652;FLJ36620;LZTR2;PGPR-p117;RGPR;SEC16S OTTHUMP00000032954;OTTHUMP00000206854;RGPR-p117;leucine zipper transcription regulator 2;protein SEC16 homolog B;protein transport protein Sec16B;regucalcin gene promoter region-related protein p117;regucalcin gene promotor region related protein APPROVED protein-coding ENSG00000120341 30301 11491 612855 VALIDATED 1607079 SEC22C SEC22 vesicle trafficking protein homolog C (S. cerevisiae) This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 3 3 3 p22.1 42529876 42563833 - 42564476 42598432 - 42589459 42642572 - 6480464 9501016;12975309;12477932;16344560 9117 C9J2R1;C9J448;C9J9A4;C9JNW1;F5H0H7;F8VQT7;F8WBN1;F8WDR5;H7C479;Q9BRL7 ABBA01024766;ABBA01024767;ABBA01024768;AC092047;AF039568;AK074576;AK292856;AK293133;AMYH01013114;AY359041;BC006178;BC018437;BX377531;CB410223;CH471055;CR749670;DA434403;NM_001201572;NM_001201584;NM_004206;NM_032970 AAD02171;AAH06178;AAH18437;AAQ89400;ABM82520;ABM85713;BAF85545;BAG56682;CAH18461;EAW64653;EAW64654;EAW64655;EAW64656;NP_001188501;NP_001188513;NP_004197;NP_116752;Q9BRL7 Hs.445892 1340088;1714359;1759757;1776710;2108451;2183144;5014057;5022450;5022649;5037552 D10S275;D11S2875;D1S3699;D3S3687;D8S2279;RH119961;SEC22L3_8900;SHGC-150986;SHGC-76864;STS-H98967 DKFZp761F2321;MGC13261;MGC5373;SEC22L3 OTTHUMP00000162608;OTTHUMP00000162609;OTTHUMP00000209408;OTTHUMP00000209409;OTTHUMP00000209410;OTTHUMP00000209412;SEC22 vesicle trafficking protein-like 3;SEC22 vesicle-trafficking protein homolog C;SEC22 vesicle-trafficking protein-like 3;secretion deficient 22C;vesicle trafficking protein;vesicle-trafficking protein SEC22c APPROVED protein-coding ENSG00000093183 16828 04938 604028 REVIEWED 1344636 SEC22A SEC22 vesicle trafficking protein homolog A (S. cerevisiae) The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008] 3 3 3 q21.1 121327594 121400083 + 124403465 124474050 + 122920774 122992983 + 61611;1580863;6480464 9094723 17207965;20379614;8621431;17499046;16344560;15489334;14702039;12477932;11042152;9501016;11927603 26984 C9J463;C9JDJ8;C9JNZ0;C9JR77;C9JRY4;C9JZ27;F8WAU7;Q96IW7 ABBA01016461;ABBA01016462;AC063922;AC112503;AF100749;AK057587;AK315771;AMYH01013432;BC007122;BG613364;BX118915;CH471052;DA308910;NM_012430 AAD43013;AAH07122;ADQ32303;BAG38123;BAG51938;EAW79451;NP_036562;Q96IW7 Hs.477361 1341787;1663067;1672927;1674482;1759725;2149067;2179171;5014003;5015869;5037552;5491543 D17S1136;D3S3674;D8S2279;GDB:313261;MARC_17489-17490:1016467909:1;SGC34688;SHGC-151005;SHGC-58219;SHGC-77272;STS-H48436;WI-20424 SEC22L2 OTTHUMP00000215581;OTTHUMP00000215582;OTTHUMP00000215583;OTTHUMP00000215598;SEC22 vesicle trafficking protein-like 2;SEC22 vesicle-trafficking protein homolog A;SEC22 vesicle-trafficking protein-like 2;sec22 homolog;vesicle-trafficking protein SEC22a APPROVED protein-coding 20260 15313 612442 REVIEWED 1320628 SEC22B SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009] 1 1 q21.1 143807764 143828279 + 145096407 145116922 + 61611;1580863;6480464 9094723 16354670;17081065;15489334;15308636;15272311;15203218;12477932;11042152;11035026;11001058;9653160;15029241;20562859;9166403;23383273;22053931;22505724;22939629;19471022;19322201;18781797;21139048;21890473;21906983;21987572;8889548;8889549;22264512;19738201;19805454;21963094;21988832;23000965;23246001 9554 O75396 AA135767;AC245008;AF047442;AI085383;AK289875;AL359758;AMYH01000980;BC001364;BU741516;BX537145;CD619408;NM_004892 AAC39893;AAH01364;ABM83510;ABM86727;BAF82564;NP_004883;O75396 Hs.632438 1689247 RH45098 ERS-24;SEC22L1 ER-Golgi SNARE of 24 kDa;OTTHUMP00000205451;SEC22 vesicle trafficking protein-like 1;SEC22 vesicle-trafficking protein homolog B;vesicle-trafficking protein SEC22b APPROVED protein-coding 10700 04939 604029 REVIEWED 1321756 SEC23B Sec23 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] 20 20 p11.23 18436188 18490050 + 18488188 18542059 + 1580863;6480464;6907045;7240710 11836161;18029348;19621418;20379614;9345103;8898360;19561605;16341674;16189514;15489334;15342556;12477932;11780052;10329445;10075675;21145461;20381388;20562859;20941788;22863883;21252497;20015893;22939629;21850656;21139048;21890473;21906983;22208203;19738201;22323290;23000965;9472029;22267732;22586326;23455922;22764119 10483 B4DJW8;Q15437;Q5QPE1;Q5QPE2 ABBA01054047;ABBA01054048;AK296270;AK299171;AK299513;AL121893;AL121900;AL540773;AMYH01011743;BC001151;BC001575;BC005032;BC005404;BC095404;BM473680;BM751928;BM925053;BP244573;BX398403;CH471133;DB447110;EC528189;NG_016281;NM_001172745;NM_001172746;NM_006363;NM_032985;NM_032986;X97065 AAH05032;AAH05404;AAH95404;ABM82079;ABM85258;BAG58980;BAG61217;BAG61466;CAA65775;EAX10231;EAX10232;EAX10233;EAX10234;EAX10235;NP_001166216;NP_001166217;NP_006354;NP_116780;NP_116781;Q15437 Hs.369373 1798134;2149398;2161652;2170344;2191363 A006P24;MARC_17867-17868:1025013978:1;RH66074;SEC23B_2632;SHGC-31801 CDA-II;CDAII;CDAN2;HEMPAS OTTHUMP00000042645;OTTHUMP00000042646;OTTHUMP00000042648;OTTHUMP00000063206;SEC23-like protein B;SEC23-related protein B;congenital dyserythropoietic anemia, type II;protein transport protein Sec23B;transport protein SEC23B APPROVED protein-coding ENSG00000101310 10702 11543 224100;610512 REVIEWED 1354109 SEC23A Sec23 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008] 14 14 q21.1 38570874 38642188 - 39501123 39572437 - 1580863;6480464;6907045;7240710 17192411;20379614;10075675;16091426;17220478;18692470;11252894;11031247;8898360;18713835;17981133;16980979;15489334;15013749;14702039;12677423;12508121;12477932;10329445;15580264;21145461;21319273;22863883;22939629;21593139;21139048;21890473;21906983;22586326;22495181 10484 B3KXI2;F5H365;F5H6C4;G3V1W4;G3V2R6;G3V3G5;G3V4Q2;G3V4V1;G3V5K1;G3V5X8;Q15436 ABBA01061543;ABBA01061544;ABBA01061545;AK127355;AK293944;AK299862;AK303485;AK312259;AL109628;AL137739;AMYH01005682;BC036649;BX537566;CH471078;NG_012157;NM_006364;X97064 AAH36649;ABM81828;ABM84273;ABM84981;BAG35191;BAG54494;BAG57321;BAG61717;BAG64521;CAA65774;EAW65831;NP_006355;Q15436 Hs.272927 1712797;1796728;2126930;2138961;2148788;2159356 A003B13;D14S644E;G35986;RH120113;RH78878;SEC23A_1368 CLSD;MGC26267 OTTHUMP00000178872;OTTHUMP00000244209;OTTHUMP00000244213;SEC23-related protein A;protein transport protein Sec23A APPROVED protein-coding ENSG00000100934 10701 06714 607812;610511 REVIEWED 6483857 SEC24B-AS1 SEC24B antisense RNA 1 This lncRNA contains a single Alu element which, along with 1/2-sbsRNA3, appears to target the 3' UTR Alu element in MTAP. Downregulation of the RNA appears to up-regulate the target. [provided by RefSeq, Feb 2011] 4 q25 110351119 110354973 - 12477932;21307942 100533182 ABBA01063775;AC138782;AMYH01014456;BC009800;NG_032166;NR_039978 Hs.518927 1/2-SBSRNA4 APPROVED miscrna ENSG00000247950 44003 VALIDATED 1319664 SEC24B SEC24 family, member B (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The role of this gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 4 q25 107677967 107755474 + 110574420 110681064 + 110354971 110461615 + 1580863;6480464;6907045 21145461;10075675;17474147;11252894;11031247;18713835;17499046;17081983;16344560;16094384;12477932;10329445;20562859;20332099;20811636;22939629;19706601;21139048;19542561;22323290;23455922 10427 B7ZKM8;O95487 ABBA01063775;ABBA01063776;ABBA01063777;AC105314;AC138782;AI193145;AJ131245;AK300278;AK304234;AMYH01014456;AMYH01014457;BC040137;BC117135;BC143268;BC143269;BC143276;BM802180;CH471057;DA498444;NG_032166;NM_001042734;NM_006323 AAH40137;AAI17136;AAI43269;AAI43277;BAG62038;BAG65103;CAA10335;EAX06241;NP_001036199;NP_006314;O95487 Hs.292472 1649997;1661098;1796730;2150326;2162816;2167600;5127074 D4S2646;SEC24B_1319;SGC33972;SHGC-23029;SHGC-36718;SHGC-59599;SHGC-67946 MGC48822;SEC24 OTTHUMP00000220118;OTTHUMP00000220119;OTTHUMP00000224463;SEC24 related gene family, member B;Sec24-related protein B;protein transport protein Sec24B;secretory protein 24 APPROVED protein-coding ENSG00000138802 10704 06216 607184 REVIEWED 1319800 SEC24A SEC24 family, member A (S. cerevisiae) The protein encoded by this gene belongs to a family of proteins that are homologous to yeast Sec24. This protein is a component of coat protein II (COPII)-coated vesicles that mediate protein transport from the endoplasmic reticulum. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 5 5 5 q31.1 130110657 130189971 + 134012378 134091500 + 133984475 134063601 + 1580863;6480464;6907045 11252894;11031247;17499046;17255961;15489334;12477932;10329445;10075675;16189514;21252943;21145461;22863883;22939629;12766061;21139048;21890473;21906983;22820839 10802 B4E205;H0Y9J6;O95486 ABBA01068749;ABBA01068750;ABBA01068751;ABBA01068752;AC010301;AC106763;AJ131244;AK026545;AK304060;AL080064;AL137677;AMYH01015626;BC009325;BC019341;BM127845;CD109783;CD677660;CH471062;L81692;NM_001252231;NM_021982 AAH09325;AAH19341;BAG64967;CAA10334;EAW62245;EAW62246;NP_001239160;NP_068817;O95486 Hs.595540 1339431;1644949;1678511;2120596;2140709;2150083;5019695;7186376 A009F27;D5S458;G32508;RH36020;RH45972;RH79864;STS-H02274 OTTHUMP00000223122;SEC24 related gene family, member A;SEC24-related protein A;protein transport protein Sec24A APPROVED protein-coding ENSG00000113615 10703 607183 REVIEWED 1319616 SEC23IP SEC23 interacting protein This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 10 10 10 q25-q26 115383262 115432278 + 121642213 121691235 + 121652085 121704170 + 1580863;6480464 10400679;19240061;16510448;22261722;15623529;15489334;14702039;12477932;11112430;16385451;16344560;17428803;20308572;20679433;22863883;22939629;18029348;19542561;21139048;21890473;21906983 11196 F5H0L8;H7C0V8;H7C4C4;Q9Y6Y8 AB019435;ABBA01062880;ABBA01062881;ABBA01062882;AC027672;AF116723;AI093198;AK000698;AK001135;AK021846;AK023238;AK301517;AK307286;AK314592;AMYH01003120;BC002540;BC063800;BT006755;BX649119;CH471066;DA193345;DA942854;NM_007190;NR_037771 AAH63800;AAO15299;AAP35401;BAA77392;BAG50859;BAG51172;BAG63023;EAW49371;EAW49372;EAW49373;EAW49374;NP_009121;Q9Y6Y8 Hs.435004 1673536;1699240;1846987;2118553;5024761;5093326;5127615 A009L28;G32653;RH103201;RH36905;RH44608;STS-H95966;STS-N22197 MSTP053;P125;P125A OTTHUMP00000020613;SEC23-interacting protein;Sec23-interacting protein p125;phospholipase APPROVED protein-coding 17018 07152 REVIEWED 1323325 SEC24D SEC24 family, member D (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. [provided by RefSeq, Jul 2008] 4 4 4 q26 117004529 117117866 - 119863427 119976702 - 119643978 119757326 - 1580863;6480464;6907045 11252894;10329445;11031247;17210573;16344560;16189514;15231748;14702039;12477932;10075675;9872452;15580264;20332099;20379614;20889976;22863883;22939629;21890473;21906983;22404651 9871 A8K6V0;D6RAE2;D6RBM1;D6RGJ5;E9PC44;E9PDM8;E9PG84;O94855 AB018298;ABBA01044693;ABBA01044694;ABBA01044695;AC108030;AC110079;AF130464;AK000709;AK001390;AK125962;AK291765;AK302479;AK309960;AK310259;AMYH01014484;BC035761;BC037736;CH471229;DB224337;NM_014822 AAD28756;AAH35761;AAH37736;AAY40935;ABM85382;ABW03718;BAA34475;BAA91334;BAF84454;BAG50901;BAG54271;BAG63767;EAW73653;EAW73654;EAW73655;EAW73656;NP_055637;O94855 Hs.189641 1701382;1735394;2130948;2150340;2150342 D4S2565E;D4S2788;RH104321;SHGC-36538;SHGC-50671 FLJ43974;KIAA0755 OTTHUMP00000163899;OTTHUMP00000219902;SEC24 related gene family, member D;SEC24-related protein D;protein transport protein Sec24D APPROVED protein-coding ENSG00000150961 10706 06218 607186 REVIEWED 1317006 SEC31B SEC31 homolog B (S. cerevisiae) This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008] 10 10 10 q24.31 95984251 96017442 - 102236393 102269585 - 102246403 102279595 - 6480464;6907045 16495487;14702039;12477932;10788476;8889548;16385451;17332742;21150319;23362303;23400010 25956 B4DGE3;B4E2H6;E9PKR7;F6TTE0;Q9NQW1 ABBA01063225;ABBA01063226;AF274863;AF279139;AK093637;AK098002;AK128343;AK289975;AK294551;AL080141;AL133352;AMYH01003000;BC034946;BC044569;BC053949;BC071580;BC144312;BC144313;BM719543;BX640914;CH471066;NM_015490 AAF78243;AAH34946;AAI44314;AAI48658;BAF82664;BAG57754;CAB45735;CAE45955;EAW49821;EAW49822;EAW49823;EAW49824;NP_056305;Q9NQW1 Hs.18889 1659980;2109819;2177583;5022651;5022931 D11S2921;RH69723;SEC31L2_9438;SHGC-33917;ksks372 DKFZp434M183;SEC31B-1;SEC31L2 OTTHUMP00000020817;SEC31-like 2;SEC31-like protein 2;SEC31-related protein B;protein transport protein Sec31B;secretory pathway component Sec31B-1 APPROVED protein-coding ENSG00000075826 23197 15315 610258 REVIEWED 1321602 SEC24C SEC24 family, member C (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q22.2 68787456 68815097 + 75174138 75201925 + 75504131 75531933 + 1580863;6480464;6907045 18692470;11252894;10329445;11031247;10214955;18329616;17373700;15489334;15302935;15013749;12477932;10075675;7584044;16189514;21145461;16751776;22863883;21454670;21832049;22939629;18029348;22586326;21628590;22779921;21139048;21890473;21906983;22404651;19738201;20085233;21963094;21988832;22623428;23000965;23288844;15899885 9632 B4DZT4;E7EP00;F6RFB3;G5EA31;P53992 ABBA01020309;ABBA01020310;ABBA01020311;AC022400;AK098512;AK298598;AK299826;AK303085;AK309918;AK316451;AL596994;AL832110;AMYH01002830;BC018928;BQ710971;CA419040;CH471083;D38555;NM_004922;NM_198597 AAH18928;ADZ15543;BAA07558;BAG60784;BAG61695;BAG64196;BAH14822;EAW54515;EAW54516;EAW54517;NP_004913;NP_940999;P53992 Hs.81964 1659447;1661790;1686532;1796732;1851664;2141782 D10S2187;RH25307;RH44071;RH44836;SEC24C_392;WI-18926 KIAA0079 OTTHUMP00000019829;OTTHUMP00000019830;OTTHUMP00000019831;SEC24 related gene family, member C;SEC24-related protein C;protein transport protein Sec24C APPROVED protein-coding ENSG00000176986 10705 06217 607185 REVIEWED 1350188 SEC31A SEC31 homolog A (S. cerevisiae) The protein encoded by this gene is similar to yeast Sec31 protein. Yeast Sec31 protein is known to be a component of the COPII protein complex which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII , in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 q21.22 83958838 84031424 - 83739814 83812419 - 1580863;6480464;6907045 17196169;17214967;11252894;10788476;11031247;18713835;17981133;16957052;16407955;16344560;16161041;14702039;12665801;12477932;12107410;11269867;10048485;8125298;15146057;21145461;20936779;18029348;18256029;18692470;20379614;20834162;21325169;22939629;21109691;19738201;22623428;23000965;23349870;18781797;21900206;21139048;21890473;21906983;21963094;19054391;22331354;20691033;21853274 22872 B7ZL00;D6RAB3;D6RBT0;D6RCQ9;D6RE64;D6REA9;D6REC0;D6REX3;D6RHE8;D6RHZ5;H0Y8V7;H0Y8W8;H0Y9K1;H0Y9T9;H0Y9V3;H0YAB3;H0YAF5;H7BXG7;Q6ZU90 AB018358;AB018359;AB020712;ABBA01063444;ABBA01063445;ABBA01063446;ABBA01063447;ABBA01063448;ABBA01063449;AC021105;AC108469;AF139184;AF161393;AF161452;AK001014;AK002161;AK125897;AK225934;AK295810;AL049463;AL704825;AMYH01014356;AMYH01014357;AY137583;BC031292;BC039834;BC047883;BC084583;BC117221;BC143489;BC143491;BC143492;CA397330;CA428539;CH471057;CR933696;DA508741;DA720299;DC342364;NG_029569;NM_001077206;NM_001077207;NM_001077208;NM_001191049;NM_014933;NM_016211 AAF28953;AAF29012;AAF67836;AAH47883;AAH84583;AAI17222;AAI43490;AAI43492;AAI43493;AAN15221;BAA74928;BAA84923;BAA84924;BAC86336;BAG58628;CAH56418;CAI45995;EAX05906;EAX05907;EAX05908;EAX05909;EAX05910;EAX05911;EAX05912;NP_001070674;NP_001070675;NP_001070676;NP_001177978;NP_055748;NP_057295;O94979 Hs.370024 1647546;1672514;1690896;1719599;1849899;2106591;2131403;2134570;2135872;2146657;2159001;2174560;2175283;5022200;5491745 A009A37;D4S2523E;G33437;L18426;RH123704;RH36083;RH98310;SEC31A;SEC31L1__5379;SHGC-19008;SHGC-24814;SHGC-50327;SHGC-57474;SHGC-59763;SHGC-67285 ABP125;ABP130;DKFZp686N07171;HSPC275;HSPC334;KIAA0905;MGC90305;SEC31L1 OTTHUMP00000160808;OTTHUMP00000160809;OTTHUMP00000160810;OTTHUMP00000218817;OTTHUMP00000218818;OTTHUMP00000218819;OTTHUMP00000218820;OTTHUMP00000218821;OTTHUMP00000218822;OTTHUMP00000218823;OTTHUMP00000218824;OTTHUMP00000218825;SEC31-like 1;SEC31-like protein 1;SEC31-related protein A;protein transport protein Sec31A;protein-transport protein SEC31;sec31-like 1 (s. cerevisiae);web1-like protein;yeast Sec31p homolog APPROVED protein-coding ENSG00000138674 17052 15314 610257 REVIEWED 5132552 SEC63P1 SEC63 homolog (S. cerevisiae) pseudogene 1 1 1 96264972 96266231 + 98011257 98012516 + 100420341 ABBA01045475;AL356457;AMYH01000818;NG_027119 1688624;2182939 RH17430;RH80889 pseudo 41953 INFERRED 5132553 SEC63P2 SEC63 homolog (S. cerevisiae) pseudogene 2 4 4 35929061 35930967 + 35489434 35491342 + 100420287 ABBA01074286;AC093761;AMYH01014107;NG_025200 pseudo 41954 INFERRED 1312761 SEC61B Sec61 beta subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008] 9 9 q22.32-q31.3 101024391 101032722 + 101984570 101992901 + 6480464;6907045 8107851;18555783;17215517;17081983;16083285;15489334;15164053;12477932;10799540;10601334;10508919;10212142;9792704;9585408;9565615;9512475;8945469;8125298;16015337;20676083;19602593;9631292;20516149;21255561;20937808;21182205;23129660;22710939;21343306;21139048;17360537;22645275 10952 P60468;Q53FA5 ABBA01042903;AJ293399;AK223384;AL137067;AMYH01021565;BC001734;CH471105;CR456883;CR542159;L25085;NM_006808 AAA19706;AAH01734;BAD97104;CAG33164;CAG46956;EAW58912;NP_006799;P60468 Hs.191887 1664920;1772288;1856869 D9S2083;SHGC-30916;WI-11370 OTTHUMP00000021784;Sec61 complex, beta subunit;protein translocation complex beta;protein transport protein SEC61 beta subunit;protein transport protein Sec61 subunit beta APPROVED protein-coding ENSG00000106803 16993 06715 609214 REVIEWED 1351813 SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae) The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008] 3 3 3 q21.3 126201130 126220443 + 129253902 129273216 + 127771212 127790526 + 6480464;6907045 17353931;18480044;16303743;15489334;14702039;12477932;11054417;10601334;10212142;9792704;9565615;9512475;8945469;19615732;9631292;21102557;22375059;22990118;16196087;21406962;21987770;21252943;21903422;21139048;21890473;21906983;14644099;20676083;22796945;17110338;20706999;21963094;21987572;22505607;18555783;20937808;22190034;9585408 29927 B3KME8;B3KNF6;B4DR61;C9JXC6;Q9Y2R3 ABBA01020888;AC011311;AF077032;AF084458;AF346602;AK001689;AK027423;AK027452;AK027454;AK027458;AK074706;AK074907;AK074928;AK075148;AK129816;AK299118;AL831940;AL832821;AMYH01013460;AMYH01013461;BC002951;BC029970;CH471052;CQ783967;NM_013336 AAD27765;AAD39847;AAI52928;AAI56689;AAK29083;BAC11283;BAC11298;BAC11434;BAG50960;BAG51318;BAG51323;BAG51324;BAG51326;BAG51989;BAG61173;CAD38592;CAF86948;CAI46127;EAW79324;EAW79325;EAW79326;EAW79327;NP_037468;P61619 Hs.518236 1683012;1773568;2152320;2166099;2183278 D3S4244;RH98730;SHGC-33998;SHGC-77295;SHGC-77312 HSEC61;SEC61;SEC61A OTTHUMP00000216015;OTTHUMP00000216020;Sec61 alpha-1;protein transport protein SEC61 alpha subunit;protein transport protein Sec61 subunit alpha;protein transport protein Sec61 subunit alpha isoform 1;sec61 homolog APPROVED protein-coding ENSG00000058262 18276 15316 609213 REVIEWED 1314281 SEC61A2 Sec61 alpha 2 subunit (S. cerevisiae) The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 p14 12101504 12141488 + 12211704 12246832 + 12171640 12211957 + 1580863;6480464;6907045 15342556;14702039;12477932;11217851;10212142;9565615;16385451;19615732;9631292;20562859;21987572;21890473;21906983 55176 A6NIF9;A6NK38;B3KQ68;C9JJV4;F2Z2C7;F8W776;H7C069;H7C1Q9;H7C1S8;Q8TC24;Q9H9S3 ABBA01034668;ABBA01034669;ABBA01034670;ABBA01034671;ABBA01034672;AC073160;AF346603;AK001440;AK022027;AK022640;AK057532;AK292295;AK301841;AMYH01002030;BC026179;BP212860;BX645143;CH471072;NM_001142627;NM_001142628;NM_018144;NR_024576;NR_024577 AAH26179;AAK29084;ADZ15735;BAA91692;BAB13955;BAB14148;BAF84984;BAG51930;BAG63284;EAW86323;EAW86324;EAW86325;EAW86326;NP_001136099;NP_001136100;NP_060614;Q9H9S3 Hs.112955 1670225;1672206;1674997;1731086;1774804;2190875 D10S293;MARC_10123-10124:1001523166:3;RH68542;SHGC-33307;SHGC-64287;WI-20796 FLJ10578 OTTHUMP00000019099;OTTHUMP00000019100;OTTHUMP00000019101;OTTHUMP00000019102;Sec61 alpha form 2;protein transport protein Sec61 subunit alpha;protein transport protein Sec61 subunit alpha isoform 2;sec61 alpha-2 APPROVED protein-coding ENSG00000065665 17702 15317 REVIEWED 1351792 SEDLP6 spondyloepiphyseal dysplasia, late, pseudogene 6 11031107 27192 AC009235 10715 1314869 SEC61G Sec61 gamma subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 7 7 7 p11.2 54925611 54932604 - 54787434 54794433 - 54819940 54826939 - 6480464;6907045 16381901;15489336;15489334;12477932;11076863;11042152;10212142;9565615;8945469;8107851;9631292;21139048 23480 P60059 AACC02000089;ABBA01011845;AC074351;AF054184;AF086539;AK308617;AK311845;AMYH01017267;BC009480;BC051840;BU932672;CD385140;CH236957;CH471201;CR456979;NM_001012456;NM_014302 AAC99401;AAH09480;AAH51840;BAG34787;CAG33260;CAL38284;EAW50960;EAW50961;NP_001012474;NP_055117;P60059 Hs.488282 2186920 SHGC-2996 SSS1 OTTHUMP00000159590;OTTHUMP00000209148;OTTHUMP00000209149;protein transport protein SEC61 gamma subunit;protein transport protein Sec61 subunit gamma APPROVED protein-coding ENSG00000132432 18277 15318 609215 REVIEWED 1318878 SEC62 SEC62 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008] 3 3 3 q26.2 168083886 168115467 + 171167274 171198855 + 169684580 169716161 + 1580863;6480464;6907045 16713569;9020021;17081983;14702039;16547154;15489334;12477932;10799540;10683767;20669223;18029348;22648169;22682366;22375059;21557272;21139048;21906983;22197383;22190034;22505724;20071467;21963094;21988832;23000965;23287549 7095 F8WCJ7;F8WDG8;F8WF48;Q99442 AB024586;ABBA01058698;ABBA01058699;ABBA01058700;AC008040;AK025548;AK057365;AMYH01013642;BC003677;BC007040;BC012035;BC089399;BC105971;BX475495;BX537668;BX648539;CH471052;D87127;NM_003262;U93239 AAB51391;AAH03677;AAH12035;AAI05972;ACE86871;ACE87559;BAA13254;BAB12685;EAW78527;EAW78528;EAW78529;EAW78530;EAW78531;EAW78532;EAW78533;NP_003253;Q99442 Hs.744859 1656003;1668329;1687205;1850189;1853974;1856920;2111512;2118562;2134485;2134487;2191331;5015881;5016478;5022578;5109281 A001Y45;D1S1423;D1S1425;D20S1089;G19801;GDB:335751;GDB:434012;MARC_17479-17480:1016465460:1;RH16643;RH48979;RH69313;SHGC-77511;SHGC-77520;STS-AA031543;WI-20113 Dtrp1;FLJ32803;HTP1;TLOC1;TP-1 OTTHUMP00000213389;OTTHUMP00000213390;hTP-1;membrane protein SEC62, S.cerevisiae, homolog of;translocation protein 1;translocation protein SEC62 APPROVED protein-coding ENSG00000008952 11846 03706 602173 REVIEWED 1605418 SECISBP2L SECIS binding protein 2-like 15 15 15 q21.1 26174444 26232374 - 47068259 47125922 - 49280835 49338760 - 6480464 15489334;12477932;9039502;12766061;16344560;22530054;21566536;21139048 9728 H0YKY4;H0YNT4;J3KPI1;Q93073 ABBA01039133;AC091073;AK307480;AK308183;AMYH01006629;BC008635;BC033001;BM129242;CD678675;CH471082;D87445;DA394911;NM_001193489;NM_014701 AAH33001;BAA13386;EAW77360;EAW77361;EAW77362;NP_001180418;NP_055516;Q93073 Hs.9997 1339989;1646150;1662724;1678547;1704902;1727499;1729690;2116652;2175133 D15S1238;D15S126;D15S94;G30363;G63007;RH91336;SHGC-17196;SHGC-37619;SHGC-79926 KIAA0256;SBP2L;SLAN SECIS-binding protein 2-like;selenocysteine insertion sequence-binding protein 2-like protein-coding ENSG00000138593 28997 17181 VALIDATED 1312738 SEC63 SEC63 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008] 6 6 q21 108298215 108386086 - 108188960 108279482 - 1580863;6480464;6907045;7240710 10799540;18224332;17456004;16835903;16344560;16303743;15489334;15133510;14702039;12477932;11023840;10543453;10219736;17353931;20095989;20408955;16341674;21251912;22375059;16196087;21903422;21139048;21890473;21906983;21963094;23000965;23166619;23209713;23287549 11231 A6PVC9;F8WB27;Q9UGP8 ABBA01026162;ABBA01026163;ABBA01026164;AF100141;AF119883;AI559292;AJ011779;AJ420532;AK001465;AK027374;AK074835;AL024507;AL137338;AMYH01016575;BC001153;BC009066;BC023598;BC047221;BC048287;BE972247;BM764168;CH471051;DB049187;NG_008270;NM_007214;X75689 AAC83375;AAF69637;AAH23598;AAH47221;AAH48287;BAG51309;BAG52012;CAB46275;CAB70701;EAW48392;NP_009145;Q9UGP8 Hs.26904 1654676;1674262;1678783;1688624;1807404;1816964;1817188;1817716;1818200;1821026;1832612;1832892;1838234;1838510;1845366;1846262;1955844;1955846;1955848;1955850;1955852;1955854;1955856;1955858;1955860;1955862;1955864;1955866;1955868;1955870;1955872;1955874;1955876;1955878;1955880;1955882;1955884;1955886;1955888;1955890;1955892;1955894;1955896;1955898;1955900;1955902;1955904;1955906;1955908;1955910;1955912;1955914;1955916;1955918;1955920;1955922;1955924;1955926;1955928;1955930;1955932;1955934;1955936;1955938;1955940;1955942;1955944;1955946;1955948;1955950;1955952;1955954;1955956;1955958;1955960;1955962;1955964;1955966;1955968;1955970;1955972;1955974;2121404;2143079;2150550;2182939;2212596;2212598;2212600;2212602;2212604;2212606;2212608;2212610;2212612;2219682;5015861;7185938 1914;D10S16;D6S2040;ECD04673;ECD09531;ECD09644;ECD09911;ECD10157;ECD11589;ECD17446;ECD17587;ECD20289;ECD20429;ECD23900;ECD24351;REN48784;REN48785;REN48786;REN48787;REN48788;REN48789;REN48790;REN48791;REN48792;REN48793;REN48794;REN48795;REN48796;REN48797;REN48798;REN48799;REN48800;REN48801;REN48802;REN48803;REN48804;REN48805;REN48806;REN48807;REN48808;REN48809;REN48810;REN48811;REN48812;REN48813;REN48814;REN48815;REN48816;REN48817;REN48818;REN48819;REN48820;REN48821;REN48822;REN48823;REN48824;REN48825;REN48826;REN48827;REN48828;REN48829;REN48830;REN48831;REN48832;REN48833;REN48834;REN48835;REN48836;REN48837;REN48838;REN48839;REN48840;REN48841;REN48842;REN48843;REN48844;REN48845;REN48846;REN48847;REN48848;REN48849;RH17430;RH17473;RH46852;RH80889;RH99154;SEC63_2452;SGC30691;stSG634007;stSG634008;stSG634009;stSG634010;stSG634011;stSG634013;stSG634014;stSG634015;stSG634017 DNAJC23;ERdj2;PRO2507;SEC63L OTTHUMP00000016937;SEC63-like;translocation protein SEC63 homolog APPROVED protein-coding ENSG00000025796 21082 09783 174050;608648 REVIEWED 1314321 SECTM1 secreted and transmembrane 1 This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008] 17 17 17 q25 76872243 76885307 - 77872189 77885210 - 80278900 80291921 - 1302741;1580863;6480464 9480746 12761501;16344560;15489334;12477932;10652336;8125298;19423540;20406964;20438785;21749909;21890473;21987572 6398 J3KS40;J3KSN0;J3KTR4;J3QKK2;J3QQU6;J3QR99;J3QRU5;Q8WVN6 ABBA01019675;AC132872;AK223068;AK223104;AK290708;AK312980;AMYH01008731;BC017716;BI861812;CH471099;DA589733;NM_003004;U77643 AAC52044;AAH17716;ACE86651;ACE87333;ADZ15868;BAD96788;BAD96824;BAF83397;BAG35817;EAW89766;NP_002995;Q8WVN6 Hs.558009 K12 K12 protein;secreted and transmembrane protein 1;type 1a transmembrane protein APPROVED protein-coding ENSG00000141574 10707 04004 602602 REVIEWED 1343356 SECISBP2 SECIS binding protein 2 The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. [provided by RefSeq, Jul 2008] 9 9 q22.2 91123232 91164381 + 91933412 91974561 + 1580863;6480464;7240710 11118223;16962588;19265499;19106619;19004874;18948268;17846120;16782878;16381901;16228000;15489336;15489334;14702039;12477932;12403468;12095701;11230166;11076863;10637234;8889548;21084748;20877624;15231748;16713569;19467292;19602558;19803747;20378690;21832049;22247018;22308032 79048 F8W892;Q4V370;Q5HYY5;Q96T21 AB208940;ABBA01004609;ABBA01004610;ABBA01004611;ABBA01004612;AF380995;AK023078;AK090608;AK127655;AK290182;AK299161;AK302852;AL136881;AL160054;AL929575;AMYH01021494;BC001189;BC023142;BC036109;BC099900;BM666620;BX000356;BX648787;CH471089;DR002073;NG_012177;NM_024077 AAH01189;AAH23142;AAH36109;AAH99900;AAK57518;BAB14393;BAD92177;BAF82871;BAG61209;BAG64039;CAB66815;CAH10382;CAL37690;CAL38577;EAW62763;EAW62764;NP_076982;Q96T21 Hs.59804;Hs.667515 1663329;1664537;1678191;2130317;2162923;5015861;5022578;5037552;7185938 D10S16;D1S1423;D8S2279;RH68462;RH69402;RH91496;SGC31294;WI-18160 DKFZp686C09169;FLJ45753;SBP2 OTTHUMP00000021618;OTTHUMP00000069896;SECIS-binding protein 2;selenocysteine insertion sequence binding protein 2;selenocysteine insertion sequence-binding protein 2 APPROVED protein-coding ENSG00000187742 30972 07408 607693;609698 REVIEWED 1351070 SEL1L sel-1 suppressor of lin-12-like (C. elegans) The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 14 14 q31 81007646 81069886 - 81937891 82000205 - 1580863;2317190;6480464;6907045 14508516 19204006;18811591;18711132;18502753;18314878;18264092;17967421;16412574;16331889;16331677;16303743;16186509;15342556;15307954;14729273;12975309;12754519;12553058;12477932;12030374;11809711;11544613;11349831;10746565;10496078;10051412;9858735;9417916;17822620;22905195;19524542;19706418;20416077;23097496;23356641;21454652;21359144;22939629;16344560;21656579;21139048;21903092;21903422;21857022;22119785;22350780;19135427;19346256;21632540;22190034 6400 G3V3B3;Q3ZCU6;Q9UBV2 AB020335;AB024763;ABBA01030607;AF052059;AF157516;AF198647;AK075511;AL121769;AL136039;AMYH01005905;AY358651;BC040498;BC054336;BP358857;CA447094;CB986742;CH471061;DA351814;DA833312;ES313707;NG_030335;NM_001244984;NM_005065;U11037 AAB52516;AAF24176;AAF29413;AAH40498;AAI72282;AAI72577;AAL40905;AAQ89014;BAA87904;BAA89204;EAW81344;NP_001231913;NP_005056;Q9UBV2 Hs.181300 1663002;1664373;1682784;1708290;1728885;1728887;1728891;1728895;1728897;2117895;2127336;2141285;2162840;2164527;2167060;2176667 G44758;G44759;G49444;G49445;G49446;RH45342;RH66038;RH66049;RH67780;RH79115;RH98263;SHGC-58050;SHGC-64261;SHGC-81129;STS-AA031823;STS-U11037 IBD2;PRO1063;SEL1-LIKE;SEL1L1 OTTHUMP00000245987;Suppressor of lin 12 (sel-1), C. elegans, homolog of;protein sel-1 homolog 1;sel-1 (suppressor of lin-12, C.elegans)-like;sel-1 suppressor of lin-12-like 1;sel-1L;suppressor of lin-12-like protein 1 APPROVED protein-coding ENSG00000071537 10717 07532 602329 REVIEWED 1352568 SEH1L SEH1-like (S. cerevisiae) The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 18 18 18 p11.21 12830517 12870069 + 12937983 12977535 + 12947983 12987535 + 1580863;6480464 17363900;21145461;15146057;17360435;15489334;14702039;14517296;12477932;12228227;12196509;17207965;20562859;10601273;19615732;16449650;22863883;21825076;20360068;21139048;21890473;21906983;20676042;19322201;22053931;22190034;22505724 81929 K7ELV2;K7ENI5;K7EP88;K7EPZ5;Q96EE3 ABBA01074032;AF136976;AF255625;AF431970;AF514996;AK056940;AK291226;AK314403;AMYH01008843;AMYH01008844;AP002449;BC012430;BX538037;CB990796;CH471113;NM_001013437;NM_031216 AAG49437;AAH12430;AAM21169;AAM44214;AAM76707;ADQ32362;BAB71317;BAF83915;EAX01530;EAX01531;NP_001013455;NP_112493;Q96EE3 Hs.301048 1654339;1667343;1683783;1857813;1857815;5022200;5022651;5024553;5037552 A006H17;D11S2921;D18S1328;D8S2279;G20806;G33182;L18426;RH42021;RH47087 SEC13L;SEH1A;SEH1B;Seh1 SEH1-like;nucleoporin SEH1;nup107-160 subcomplex subunit SEH1;sec13 like protein;sec13-like protein APPROVED protein-coding ENSG00000085415 30379 15319 609263 REVIEWED 1322649 SEL1L2 sel-1 suppressor of lin-12-like 2 (C. elegans) 20 20 20 p12.1 13900109 14046640 - 13778049 13919262 - 13830044 13975979 - 6480464 12477932;20379614;17370265;14729273;16344560 80343 C9JNX3;F8WE69;H7C4S6;Q5TEA6 ABBA01053975;ABBA01053976;ABBA01053977;ABBA01053978;AK302170;AL109657;AL117333;AL137678;AL354683;AMYH01011725;AMYH01011726;AMYH01011727;BC035741;BX649006;DA857535;DB468041;DC396776;DC398207;NM_001271539;NR_073206;NR_073207 BAG63537;NP_001258468;Q5TEA6 Hs.590879 1670825;1673755;1710888;2162949 D7S532E;HSC24E072;SHGC-84223;Z94385 C20orf50;DJ842G6.2;DKFZp434C1826;FLJ22324;dJ631M13.1 OTTHUMP00000030307;OTTHUMP00000214481;chromosome 20 open reading frame 50;protein sel-1 homolog 2;sel-1L2;suppressor of lin-12-like protein 2 protein-coding ENSG00000101251 15897 614289 VALIDATED 1604048 SEL1L3 sel-1 suppressor of lin-12-like 3 (C. elegans) 4 4 4 p15.2 26197112 26312612 - 25358147 25473708 - 25749049 25864610 - 6480464 17457313;12477932;9872452;9847074;16169070;20708005;20379614;21906983 23231 D6RCE1;D6RDH1;D6RF11;H0Y8P8;H0Y9M6;H0YA36;Q68CR1 AB018289;ABBA01032706;ABBA01032707;AC020706;AC092436;AC133961;AK025282;AK123293;AK289687;AK300219;AMYH01014068;BC009945;BC029422;BC041046;BC060867;CH471069;CR749817;DB479874;NM_015187 AAH09945;AAH29422;AAH60867;BAA34466;BAF82376;BAG61987;CAH18677;EAW92843;EAW92844;NP_056002;Q68CR1 Hs.479384 1649130;1670366;1711964;1751549;2115501;2125668;2166914;2174275;2174277 A005L10;G01952;G20304;RH118428;RH48103;SHGC-105331;SHGC-59194;SHGC-59785;SHGC-64035 DKFZp781J1697;FLJ21629;FLJ41299;KIAA0746;Sel-1L3 OTTHUMP00000218046;OTTHUMP00000218047;OTTHUMP00000218048;protein sel-1 homolog 3;suppressor of lin-12-like protein 3 APPROVED protein-coding ENSG00000091490 29108 11105 VALIDATED 736831 SELE selectin E The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008] 1 1 q22-q25 167958406 167969803 - 169691781 169703220 - 1580039;1580040;1580041;1580863;1625253;2313599;2313600;2313595;2313597;2313598;2313596;6480464;6484113;6907045;7240710 14563588;16061120;16207337;11828340;19107536;19107136;18791689;16843446;19489247;17578587 21159528;19118161;19064610;19056482;19028820;19021457;18991188;18974842;18974840;18973547;18828734;18794336;18761727;18726101;18707907;18704886;18692491;18677293;18676680;18649056;18633131;18613029;18597952;18597403;18593916;18590706;18580442;18513389;18484695;18401566;18375392;18217430;18212564;18197885;18191640;18182036;18094708;18020971;17996280;17991470;17963163;17956423;17954174;17939599;17875185;17706953;17706337;17684030;17563404;17515951;17452460;17392035;17389327;17372905;17167725;17143564;17142773;17057786;17036337;17020471;17014013;16982492;16980970;16974056;16963035;16916660;16908800;16892455;16820586;16773720;16756647;16710414;16565092;16554320;16544732;16501492;16433632;16426244;16344560;7680663;12960351;8609175;18029551;9312078;9290466;2466335;19479237;19420919;19420105;19414551;19361981;19263529;19240957;19238444;19237221;19225544;19212205;19191721;19139603;19131662;16269612;16080806;16002039;15979159;15917220;15871853;15833936;15784173;15736116;15666579;15593054;15584003;15560890;15515123;15488708;15387376;15331359;15308783;15304054;15299021;15254658;15187162;15179350;15167972;15148373;15086468;15083893;15080580;15076188;15076187;15013273;15009098;14988223;14984317;14763917;14734737;14714557;14691583;14607629;14592840;14592723;14587643;14568956;14557872;14534081;12940514;12898464;12871600;12820726;12792758;12788528;12768436;12738381;12698264;12673844;12649084;12626663;12595908;12522014;12499405;12477932;12421968;12388172;12200386;12200076;12186696;12175121;12172576;12172318;12165498;12086338;12082592;12082590;12036529;12027924;12020443;12011765;11983205;11981814;11948013;11936588;11935152;11929779;11882338;11882337;11859093;11847011;11827962;11776680;11764211;11714857;11697721;11602579;11575218;11575217;11466561;11404363;11402070;11359462;11341749;11168027;11097335;10982036;10477700;10419878;10391210;9933738;9920928;9597096;9269771;9128259;9024699;8621728;8557254;7694691;7693046;7681016;22648254;7541576;7538217;7536194;7533025;7523444;1701274;1694218;1689848;1375831;15194470;15735663;7509040;1703529;20430730;20580062;21162967;19913121;20485444;20536507;20602615;20603037;20607758;20622166;20628086;20673868;20796317;19249917;21471547;21521525;19538882;18611928;20680929;20587315;20691427;20713000;20855565;20941749;20495539;20193033;20445017;18606703;20937831;20044088;18930765;19136145;19170196;19417018;19422386;19423540;19536175;19548631;19559392;19564823;19578796;19670701;19692168;19701669;19729601;19729612;19885579;19942746;19948975;19949084;19996987;20004427;20010946;20056442;20191078;20227257;20406964;20416077;20438785;20452482;20508517;20833389;21138731;16722397;20656374;21099224;22763042;22414298;22497223;21286681;21486700;21659524;21526496;22718118;21629188;22269951;22009003;21827804;21881522;22030423;22025563;22068558;21381877;21544708;21756793;23235150;22010135;22104155;22159147;22533155;22021370;22264805;22271244;22322211;22366582;22158116;22384091;22508864;21780194;22593709;23190470;23187956;23041613;23129313;22589243;22814396;18276775;18710415;22820001;22836626;22336504;22815813;22922984;23442851;22970241 6401 P16581;Q5TI72;Q5TI73;Q5TI74;Q5TI75 ABBA01027947;AF540378;AK314214;AL021940;AMYH01001489;AY367062;BC131551;BC142677;BC142711;CH471067;DB209354;M24736;M30640;M61892;M61893;NG_012124;NM_000450 AAA52375;AAA52376;AAA52377;AAI31552;AAI42678;AAI42712;AAN01237;AAQ67702;BAG36888;EAW90860;NP_000441;P16581 Hs.82848 1731146;1745017;1795080;2112340;2123277;2142130 D1S332;D1S3363;D1S3668;GDB:592877;PMC97258P1;RH17688 CD62E;ELAM;ELAM1;ESEL;LECAM2 CD62 antigen-like family member E;E-selectin;ELAM-1;OTTHUMP00000032745;OTTHUMP00000032746;OTTHUMP00000032747;OTTHUMP00000032748;OTTHUMP00000032749;endothelial adhesion molecule 1;endothelial leukocyte adhesion molecule 1;leukocyte endothelial cell adhesion molecule 2;leukocyte-endothelial cell adhesion molecule 2 APPROVED protein-coding ENSG00000007908 10718 00566 131210;145500 REVIEWED 733754 SELENBP1 selenium binding protein 1 This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] 1 1 q21.3 149603404 149611788 - 151336778 151345210 - 1580863;6480464 1553752;9027582;19118533;18435490;18163446;16645984;16380993;16189514;16169070;15108003;14702039;12477932;10799528;8453708;8157642;1602151;22072582;1540595;21338716;21143902;20332323;19596560;19615732;19896693;19924303;17207965;18029348;20615253;20628624;22939629;17192395;22990118;16344560;8889548;20354826;20530237;21497372;21900206;20480265;17343851 8991 A6PVW9;A6PVX1;C9JVL0;F2Z2W8;F8WBA9;F8WCR4;H0Y532;Q13228 ABBA01049393;AK023875;AK296661;AK298355;AK303815;AK309264;AK310044;AK315643;AL391069;AMYH01001387;BC009084;BC032997;BQ045424;CH471121;CR456852;DB288439;NM_001258288;NM_001258289;NM_003944;U29091 AAB02395;AAH09084;AAH32997;ABM81657;ADQ32717;BAB14709;BAG38010;BAG59258;BAG60599;BAG64765;CAG33133;EAW53443;EAW53444;EAW53445;NP_001245217;NP_001245218;NP_003935;Q13228 Hs.632460 1798496;1802466;1813498;1814952;1815442;1815922;1816254;1816256;1819354;1825780;1834418;1841520;1847600;1926028;1926030;1926032;1926034;1926036;1926038;1926040;1926042;1926044;1926046;1926048;1926050;1926052;1926054;1926056;1926058;1926060;1926062;1926064;1926066;1926068;1926070;1926072;1926074;1926076;1926078;1926080;1926082;1926084;1926086;1926088;1926090;1926092;1926094;1926096;1926098;1926100;1926102;1926104;1926106;1926108;1926110;1926112;1926114;1926116;1926118;1926120;1926122;2147055;2178293;2178295;2185851;2207682;2207684;2207686;2207688;2207690;2207692;2207694;2207696 A002D26;A008S07;ECD00086;ECD02119;ECD07770;ECD08507;ECD08757;ECD09001;ECD09168;ECD09169;ECD10744;ECD13998;ECD18357;ECD21957;G19959;REN33840;REN33841;REN33842;REN33843;REN33844;REN33845;REN33846;REN33847;REN33848;REN33849;REN33850;REN33851;REN33852;REN33853;REN33854;REN33855;REN33856;REN33857;REN33858;REN33859;REN33860;REN33861;REN33862;REN33863;REN33864;REN33865;REN33866;REN33867;REN33868;REN33869;REN33870;REN33871;REN33872;REN33873;REN33874;REN33875;REN33876;REN33877;REN33878;REN33879;REN33880;REN33881;REN33882;REN33883;REN33884;REN33885;REN33886;REN33887;SHGC-2948;WI-20043;stSG627137;stSG627138;stSG627139;stSG627140;stSG627141;stSG627142;stSG627143;stSG627144 FLJ13813;LPSB;SBP56;SP56;hSBP;hSP56 56 kDa selenium-binding protein;OTTHUMP00000082403;OTTHUMP00000196309;selenium-binding protein 1 APPROVED protein-coding ENSG00000143416 10719 05007 604188 REVIEWED 1342543 SELL selectin L This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] 1 1 q23-q25 167926432 167947461 - 169659806 169680843 - 1580863;2303708;5685675;5685677;5686285;5685684;2313598;5685687;6480101;5685701;5685695;5685703;5685698;5685700;5685705;5685707;5685685;2316357;5685696;5685693;5685697;5685706;6480464;7175284;7175290;1625253;7175303;7175511;7240710 17845203;21760899;21484243;15677732;20182448;19489247;19465442;22391529;18279101;21465128;18054560;21641115;19375498;16214426;15998669;21437035;17924279;21515793;22044737;16026013;20512127;17452405;11828340;22119815;11095659 21316337;7680663;10747985;1692315;12588680;10882119;19419934;19258923;19240957;19212205;19129194;19118161;19088176;19074885;19064610;18974842;18829897;18713968;18713749;18665829;18619508;18582506;18496641;18385135;18375392;18250165;18191640;18182036;18089680;18032547;18028430;17954174;17890399;17765649;17706337;17703412;17698668;17525255;17515951;17465998;17407075;17056762;17055225;17028146;16982492;16974056;16916660;16740600;16738933;16690519;16585636;16565092;16357481;16352650;16335952;16270299;15831305;15776384;15506984;15470072;15192100;15178693;15093751;14737745;14615387;14597772;14592723;14585903;14576059;14533031;12918706;12874338;12871600;12844406;12738381;12736247;12609846;12595908;12532021;12496379;12477932;12431911;12370391;12202158;12200386;12200076;12186696;12165498;12147693;12144128;12063026;12042326;12036888;11907045;11821431;11466384;11064106;8125298;7488174;2664786;2663882;2509939;2473156;1717161;1376638;1375831;10449768;11706008;9024699;10950950;9625756;9538010;10377245;8986819;12889478;15249540;7539755;19913121;20485444;20628086;21521525;20925194;10725346;16344560;18973547;19052753;19451621;19462221;19536175;19654311;19670701;19837408;19954409;20065025;20212041;20220571;20306662;20503287;20507883;20708610;20193033;20469932;16712791;18606703;20580062;17548643;22627390;22941246;21237580;21197561;21664913;23442851;21584225;22068558;21869829;22159147;22977256;23319734;23487023;23028631;21546114;22505724;22836626;22842622;22921892 6402 P14151;Q8WW79 ABBA01027947;ABBA01027948;AI253539;AJ246000;AK225713;AK298705;AK312673;AL021940;AMYH01001489;AY233976;AY367061;BC020758;BP393094;CB164568;CH471067;DB271854;DB482055;DC378123;M25280;M32406;M32407;M32408;M32409;M32410;M32411;M32412;M32413;M32414;NG_016132;NM_000655;NR_029467;X16070;X16150;X17519 AAB60700;AAC63053;AAH20758;AAO48272;AAQ67701;ABM82302;ABM85480;BAG35555;BAG60862;CAA34203;CAA34275;CAB43536;CAB43537;CAB55488;EAW90855;EAW90856;EAW90857;EAW90858;EAW90859;NP_000646;P14151 Hs.728756 1692990;1701656;1721651;1851211;2115879;2135935;2161603;2162289 AL034213;D1S3431;G59836;RH104485;RH11088;RH11089;RH17452;WI-11175 CD62L;LAM-1;LAM1;LECAM1;LEU8;LNHR;LSEL;LYAM1;Leu-8;Lyam-1;PLNHR;TQ1;hLHRc CD62 antigen-like family member L;L-selectin;OTTHUMP00000032696;gp90-MEL;leukocyte adhesion molecule 1;leukocyte surface antigen Leu-8;leukocyte-endothelial cell adhesion molecule 1;lymph node homing receptor;lymphocyte adhesion molecule 1;pln homing receptor APPROVED protein-coding ENSG00000188404 10720 153240 REVIEWED 1603383 SELK selenoprotein K This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is localized to the endoplasmic reticulum and is highly expressed in the heart, where it may function as an antioxidant. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 53886504 53893267 - 53894266 53901029 - 53919226 53925989 - 6480464 16962588;18029348;15489334;14702039;12775843;12477932;11042152;21048031;16341674;21220695;22016385;23133653;23142642 58515 Q9Y6D0 ABBA01024471;AC012467;AF085359;AF161415;AF537132;AK123406;AK289594;AMYH01013195;BC013162;BM762385;CH471055;NM_021237 AAD40194;AAF28975;AAH13162;AAN61473;BAF82283;EAW65301;NP_067060;Q9Y6D0 Hs.58471;Hs.640242 HSPC030;HSPC297;MGC17057 OTTHUMP00000213230;OTTHUMP00000213231;selenoprotein K APPROVED protein-coding ENSG00000113811 07448 607916 REVIEWED 1603181 SELM selenoprotein M This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This gene is expressed in a variety of tissues, and the protein is localized to the perinuclear structures. [provided by RefSeq, Jul 2008] 22 22 22 q12.2 15300895 15303683 - 29830763 29833551 - 31500763 31503551 - 6480464 15489334;12477932;11839807;18029348;21048031 140606 Q8WWX9 ABBA01055320;AC005005;AMYH01012712;AY043487;BC013421;BC030236;BC042299;BC053846;BC068004;CH471095;NM_080430 AAH13421;AAH30236;AAH68004;AAK95397;EAW59934;EAW59935;NP_536355;Q8WWX9 Hs.55940 1693828;1778830 SHGC-57277;STS-W72233 MGC40146;SEPM OTTHUMP00000199395;OTTHUMP00000199396;selenoprotein M;selenoprotein SelM APPROVED protein-coding ENSG00000198832 15320 610918 REVIEWED 1605929 SELO selenoprotein O This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 22 22 22 q13.33 34514319 34530956 + 48981535 48998172 + 50639408 50656045 + 6480464 15489334;15461802;12775843;12477932;10591208;21139048;21963094;223596 83642 Q9BVL4;Q9BZU0 ABBA01011374;ABBA01011375;AF274946;AL022328;AMYH01012896;AY324823;BC001099;BC020510;BC032384;BC051758;BC110866;CH471138;CR456464;NM_031454 AAH01099;AAH20510;AAI10867;AAK07523;AAP85540;CAG30350;EAW73504;EAW73505;EAW73506;NP_113642;Q9BVL4 Hs.365405 1667952;1773017 RH78658;SHGC-58240 MGC131879 OTTHUMP00000028552;selenoprotein O APPROVED protein-coding ENSG00000073169 07449 607917 REVIEWED 737162 SELP selectin P (granule membrane protein 140kDa, antigen CD62) This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008] 1 1 q22-q25 167824711 167866001 - 169558087 169599377 - 1580074;1580075;1599904;1580863;729766;2312304;2312314;2312302;2312303;2312291;2312292;2312307;2312309;2312308;2312294;2312310;6478687;6478695;6219001;6218990;6219003;6219005;6296592;5685677;6480464;6218988;6218993;6218989;6219000;6478679;6218991;6478702;6219007;6478699;6480101;6480105;6480102;6478688;6218986;6219006;6478682;6484113;6907045;7240710 11597943;12165563;12929084;12377736;17391113;18521901;18026823;17598012;19228864;19061719;19451746;19193626;19333758;18471420;19147805;20179168;20079717;21412059;21701413;21162967;21147071;20885295;21484243;21894146;21526498;21885854;21457388;20690979;21567088;19832990;19834105;22391529;21146547;22340239;20122276;22156911;21124648;20646456 19689998;21159528;18050247;16648968;11936588;7680663;16514062;9129046;11237770;15633604;2466574;9290466;1701178;15297306;1377048;19590054;19559392;19536175;19525192;19479237;19423540;19404301;19395438;19361981;19332769;19280705;19264679;19263529;19262138;19247692;19241310;19240957;19212907;19138666;19132251;19131662;19082691;19074885;19064610;19047793;19036374;19028820;18974842;18974840;18828734;18818407;18713749;18649055;18600034;18597952;18580442;18576930;18550060;18539899;18535285;18497306;18449419;18390200;18383329;18363816;18363812;18333373;18217430;18191640;18182036;18080800;18054198;18034324;17982310;17945332;17944986;17939599;17890399;17849054;17710630;17706337;17702963;17700216;17698171;17634906;17597069;17554801;17510305;17509958;17498578;17497038;17488661;17473568;17437524;17420019;17393020;17279322;17275499;17204688;17143564;17126824;17074110;17027652;16982492;16973503;16935700;16877367;16860607;16764881;16683915;16636497;16633357;16352650;16344560;16332977;16263699;16257118;16184405;16139336;16125711;16100264;16014051;15916851;15885758;15769472;15705928;15583743;15543334;15497463;15353601;15351857;15316595;15299021;15297307;15231569;15221968;15217824;15133030;15080580;15059609;15059608;15026421;14764537;14681304;14680834;14676308;14630802;14615387;14592723;14568956;14557872;12945872;12911583;12888879;12871600;12871503;12860908;12858167;12847232;12783114;12757775;12736150;12477932;12468916;12384485;12200386;12082590;12036880;12036879;11981814;21143192;22473907;11885026;11861803;11247301;11081633;11040019;10950950;10733515;10713099;10499919;10391209;9668170;9128259;8901515;7693674;7684381;7508745;7505680;2472431;1717161;1705568;1694218;1375831;15972662;20580062;21106229;21319374;19913121;20485444;20536507;20586826;20602615;20603037;20628086;20673868;20079524;21085001;19221099;21507293;20153702;20669347;20435690;21071696;8467233;20445017;19948214;21149548;21116278;20855565;1435334;16390014;16928730;17064811;19105599;19106004;19136145;19493436;19578796;19638712;19656773;19729601;19812370;19874461;19913879;19948975;20010946;20034466;20051472;20056442;20097880;20167578;20227257;20376705;20406964;20438785;20452482;20431845;20431848;17192395;22627390;22688557;21170343;21638248;19452728;21245745;18029348;21441381;21521525;21385561;21642543;23442851;21618132;20723301;21534853;21763287;20205626;21594636;22053609;21803846;17632516;22703881;22039451;22068558;21544708;21866298;21545688;22021370;21497813;22010135;21816455;22142906;22100896;22192915;21658254;22159147;21714704;22425972;22088599;22745009;22593709;23018521;23014585;22717029;23416763;22836626;22842622;18606703 6403 F6VVT6;P16109;Q5R341;Q5R342;Q5R343;Q5R345;Q5R349;Q6NUL9 ABBA01027950;AF542391;AK312884;AL022146;AMYH01001489;AY367063;BC028067;BC068533;CH471067;DA926598;DA994564;L01574;M25322;M60222;M60234;NG_012125;NM_003005;Z99572 AAA35910;AAA35911;AAC31762;AAH28067;AAH68533;AAN06828;AAQ67703;BAG35732;EAW90850;EAW90851;EAW90852;EAW90853;EAW90854;NP_002996;P16109 Hs.73800 1692232;2160352 AL033775;SHGC-17253 CD62;CD62P;FLJ45155;GMP140;GRMP;LECAM3;PADGEM;PSEL CD62 antigen-like family member P;GMP-140;OTTHUMP00000032609;OTTHUMP00000032610;OTTHUMP00000032615;OTTHUMP00000032616;OTTHUMP00000032620;OTTHUMP00000032631;OTTHUMP00000032632;OTTHUMP00000032633;P-selectin;granule membrane protein 140;granulocyte membrane protein;leukocyte-endothelial cell adhesion molecule 3;platelet activation dependent granule-external membrane protein;platelet alpha-granule membrane protein APPROVED protein-coding ENSG00000174175 10721 01433 147050;173610 REVIEWED 1603489 SELV selenoprotein V This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 36807457 36813038 + 44697593 44703166 + 40005753 40011326 + 15489334;12775843;12477932;21048031;22990118 348303 P59797 ABBA01040733;AC011500;AMYH01009794;AY324825;BC117331;CH471126;NM_182704 AAI17332;AAP85542;EAW56907;NP_874363;P59797 Hs.319284 2106593 SELV__5380 OTTHUMP00000232908;selenoprotein V APPROVED protein-coding ENSG00000186838 12134 607919 REVIEWED 1602000 SELT selenoprotein T This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008] 3 3 3 q25.1 148734077 148761252 + 151803756 151830924 + 150321066 150348234 + 6480464 10567350;16303743;15489334;12975309;12775843;12477932;9110174;8619474;16169070;19322201;17503775;21890473 51714 P62341;Q6IAK0 ABBA01058925;AC069236;AF131856;AF195141;AK075006;AK300315;AMYH01013575;AY358095;AY358096;BC006012;BC008411;BC009556;BC009611;BC026350;BC036738;BC071699;BE221894;CD707391;CH471052;CR457154;NM_016275 AAD20063;AAF13696;AAH06012;AAH08411;AAH09556;AAH09611;AAH26350;AAH36738;AAH71699;AAQ88462;AAQ88463;BAG52048;BAG62067;CAG33435;EAW78827;EAW78828;EAW78829;NP_057359;P62341 Hs.369052 1663824;1678829;1678885;1686008;1686530;1694856;1744335;1849152;1849154;2169646 A001V27;G19688;G20683;G44299;GDB:451721;RH17143;RH65015;RH68371;RH80692;SHGC-59809 OTTHUMP00000216656;OTTHUMP00000216657;OTTHUMP00000216658;OTTHUMP00000216688;selenoprotein T APPROVED protein-coding ENSG00000198843 07446 607912 REVIEWED 1317472 SELPLG selectin P ligand This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] 12 12 q24 107539800 107551799 - 109015671 109027670 - 1580863;6218987;6218985;6480464;6907045 22009715;22307784 10834846;7505206;19543284;19542463;19404397;19395438;19262138;19074885;18773738;18713749;18519846;18509085;18497306;18485118;18452987;18451333;18363812;18250165;18182036;17947642;17910894;17890399;17827388;17597069;17545190;17510705;17420019;17372146;17346310;17322099;17221329;17181632;16633357;16547281;16501095;16269612;16257118;16100264;16039046;16024226;15926890;15925831;15843584;15522894;15497463;15489334;15488708;15466853;15459589;15386532;15217824;15187162;15059608;15026421;15001428;14702039;14678816;14641238;14615387;14592840;14507929;12879153;12874338;12736689;12736247;12595306;12529243;12477932;12393521;12387735;12377939;12354382;12223514;12189248;12115638;12036880;11961238;11929779;11916843;11843835;11520793;10807781;10770806;10725346;10713099;10599889;9804815;9414280;9353122;9128259;8839831;8621728;8125298;7585950;7585949;7559387;7541799;7521878;15060624;19913121;20558823;20586826;20628086;22311979;17632516;20690162;20585324;19628338;20445017;21044367;17064811;17558413;18196517;19353220;19423540;19665434;19696154;19875629;19913879;20051472;20376705;20406964;20438785;9486531;22947939;20705591;20943886;21292497;21079683;21144558;21768350;21880775;21484243;21864485;22021370;21816455;22096244;22229154;22366582;23302872;22535539;21060818;22830021 6404 Q14242 ABBA01053130;AC007569;AC008119;AK098315;AK127638;AK225644;AK290395;AK295238;AK298742;AMYH01004732;AY331789;BC029782;CA427270;CH471054;CQ785370;CQ785372;DC339004;NM_001206609;NM_003006;U02297;U25956 AAA74577;AAC50061;AAH29782;AAP81163;ABM83043;ABM86239;BAC05283;BAC87066;BAF83084;BAG58231;BAH12863;CAG14915;CAG14916;EAW97824;EAW97825;NP_001193538;NP_002997;Q14242 Hs.591014 1337597;1342050;1685570;1775511;1796736;2125644;7183436 D12S1637;D12S1893;D12S84;RH80178;SELPLG_1234;STS-U02297 CD162;CLA;PSGL-1;PSGL1 OTTHUMP00000241014;OTTHUMP00000241015;P-selectin glycoprotein ligand 1;cutaneous lymphocyte-associated associated antigen APPROVED protein-coding ENSG00000110876 10722 02845 600738 REVIEWED 1606511 SELRC1 Sel1 repeat containing 1 1 1 1 p32.3 51438778 51450802 - 52925102 52936626 - 53152014 53164038 - 6480464 15489334;14702039;12477932;22939629;22990118;22114354;21890473;21906983 65260 Q96BR5 ABBA01074765;AC099784;AK022501;AK023237;AK225041;AK225087;AMYH01000621;BC005992;BC015313;CH471059;NM_023077 AAH15313;BAB14063;EAX06772;NP_075565;Q96BR5 Hs.349905 5022450;5022578;5037552 D10S275;D1S1423;D8S2279 C1orf163;FLJ12439 OTTHUMP00000010167;beta-lactamase hcp-like protein;hcp beta-lactamase-like protein C1orf163;sel1 repeat-containing protein 1 APPROVED protein-coding 25716 07769 VALIDATED 730921 SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008] 7 7 p12.1 83425595 83662153 - 83587659 83824217 - 1580863;6480464 8269517;18831963;18818766;18625544;18272814;18160633;18056484;17989695;17684500;17631638;17607942;17569671;17390026;17369353;16791896;16684957;16672672;16424390;16380453;16330548;16085543;15831706;15517571;15485501;15080899;14656993;14500350;12879061;12853948;12730958;12690205;12610647;12456642;10520994;10196546;9331348;8889548;7748561;15550623;20382125;21842119;20051117;11604131;12477932;18053124;18787945;19296128;19480842;19684614;19817889;19855168;19957197;20379614;19886821;20655307;21205984;21953086;22875653;23593010;19909241;22416012;21784300;21656899;21884206;22697500;21878545;23372769;21835309;22210626;22184102;22685328;23251661;23343469;23453885;22093159;18443354;22497252;22927827;22565412 10371 C9J9C4;C9JD25;Q14563 AACC02000015;ABBA01045898;ABBA01045899;ABBA01045900;ABBA01045901;AC004451;AC004848;AC006322;AC073221;AK289954;AMYH01017656;AMYH01017657;AMYH01017658;AMYH01017659;AMYH01017660;BC111416;BM723807;BU186364;BX491494;CH236949;CH471091;CR748125;CS067216;DR002146;JA738703;L26081;NG_011489;NM_006080 AAA65938;AAC78622;AAI11417;AAP22350;AAS00353;AAS02028;BAF82643;CAI84571;CCF77004;EAL24185;EAW76982;NP_006071;Q14563 Hs.252451 1331594;1646214;1661472;1691694;1691788;1696590;1713905;1717345;1767645;1786212;1796738;2127765;2129289;2173006;2173654;2184018;7185124 D7S1598;D7S2366;D7S820;G42165;G42251;GDB:1317948;RH119383;RH122163;RH69031;SEMA3A_1309;SEMIII;SHGC-106937;SHGC-33736;SHGC-53494;SHGC-56119;SHGC-82891 COLL1;HH16;Hsema-I;Hsema-III;MGC133243;SEMA1;SEMAD;SEMAIII;SEMAL;SemD;coll-1 OTTHUMP00000161379;OTTHUMP00000208884;collapsin 1;semaphorin D;semaphorin III;semaphorin L;semaphorin-3A;semaphorin-like APPROVED protein-coding ENSG00000075213 10723 04908 603961;614897 REVIEWED 1320778 SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B The semaphorin/collapsin family of molecules plays a critical role in the guidance of growth cones during neuronal development. The secreted protein encoded by this gene family member is important in axonal guidance and has been shown to act as a tumor suppressor by inducing apoptosis. [provided by RefSeq, Jul 2008] 3 3 p21.3 50280044 50289577 + 50305040 50314573 + 1580863;6480464 8633026;19367581;18985860;18922901;18757406;18458115;18356290;17452250;15831529;15489334;15273288;14702039;12810670;12477932;11922394;11809707;11717452;11085536;10196546;8603390;7748561;19548530;19683737;20088387;20124444 7869 Q13214 AB083186;AB209322;ABBA01024552;ABBA01024553;AF217991;AK092182;AK098329;AK293678;AK308875;AMYH01013168;BC009113;BC013975;BC024220;BC044602;BI603095;CH471055;CS067218;NG_032938;NM_001005914;NM_004636;U28369;U73167;U90094 AAC02731;AAD09138;AAG17234;AAH09113;AAH13975;AAH24220;AAH44602;ACE87012;ACE87700;ADZ15978;BAB88870;BAC03823;BAD92559;BAG57120;CAI84572;EAW65062;EAW65063;EAW65064;EAW65065;EAW65066;EAW65067;NP_001005914;NP_004627;Q13214 Hs.82222 1342341;5037552;5037666;5108111 D1S466;D3S4347;D8S2279;RH41936 FLJ34863;LUCA-1;SEMA5;SEMAA;SemA;semaV OTTHUMP00000233990;OTTHUMP00000233991;sema A(V);sema V;semaphorin A;semaphorin V;semaphorin-3B;semaphorin-V APPROVED protein-coding 10724 03179 601281 REVIEWED 1319638 SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 7 7 q21-q31 80209790 80386603 - 80371854 80548667 - 1580084;1580085;1580863;6480464 15077297;9168980 9405678;19666519;17390026;15609325;15489334;12853948;12730958;12690205;12477932;12174914;9331348;8889548;7829101;7748561;22899844;19414484;19915008;15146197;22924992 10512 B4DRL8;B4E2I9;F2Z2Y0;F5H1Z7;F8WEP9;Q99985 AA853650;AACC02000015;AB000220;ABBA01058056;ABBA01058057;ABBA01058058;ABBA01058059;ABBA01058060;AC004880;AC073850;AC093683;AF086506;AK299322;AK304294;AK312478;AL135601;AMYH01017645;BC030690;BF983184;BI494187;BM473251;BU740462;CH236949;CH471091;CN334967;CN334969;CS067220;D32000;NM_006379 AAH30690;AAS00351;AAS07489;ABM81773;ABM84927;BAA32398;BAG35382;BAG61330;BAG65151;CAI84573;EAL24190;EAW76995;NP_006370;Q99985 Hs.269109 1671876;1676262;1676680;1796740;1853019;2115249;2134632;2145784;2152914;2179875;5023503 D7S1934;D7S783;G31434;RH46160;RH47103;RH48494;RH80742;RH93359;SEMA3C_394;STS-N38844;STS-N63008 SEMAE;SemE OTTHUMP00000161326;OTTHUMP00000207932;sema E;semaphorin E;semaphorin-3C;semaphorin-E protein-coding ENSG00000075223 10725 04034 602645 VALIDATED 1312188 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] 1 1 q22 154390012 154414159 + 156119735 156147542 + 737633;1580863;6480464;7240710 12477932 12906260;16199541;15489334;14702039;12975309;22491253;12893810;12563299;12374982;7748561;18334927;17318185;20237496;20801516;16344560;22956603;20301590;21988832;23007237;23360997 64218 Q5TCI4;Q5TCI6;Q5TCJ5;Q5TCJ7;Q9H3S1 AA761091;AB029394;ABBA01016669;ABBA01016670;AK022349;AK022416;AK091127;AK290353;AK296693;AK315547;AL135927;AMYH01001435;AMYH01001436;AY358531;BC020974;BX640891;CH471121;DA409501;DA508826;DC332598;NG_027683;NM_001193300;NM_001193301;NM_001193302;NM_022367 AAH20974;AAQ88895;BAB14018;BAB20087;BAF83042;BAG37925;BAG52288;BAG59287;CAE45942;EAW52992;EAW52993;EAW52994;EAW52995;NP_001180229;NP_001180230;NP_001180231;NP_071762;Q9H3S1 Hs.408846 2133447 A001V24 CORD10;FLJ12287;RP11-54H19.2;RP35;SEMAB;SEMB OTTHUMP00000015916;OTTHUMP00000015917;OTTHUMP00000015918;OTTHUMP00000016567;OTTHUMP00000016570;sema B;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4A;semaphorin B;semaphorin-4A;semaphorin-B APPROVED protein-coding ENSG00000196189 10729 09528 607292;610282;610283 REVIEWED 1322177 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] 7 7 7 q21.11 77694433 77979877 - 82831158 83116260 - 82993222 83278479 - 1580095;1580863;6480464;7240710 15235037 18974298;15386596;9515811;18818766;12853948;12690205;9205841;20949546;20664171;12477932;15550623;16344560;20029409;20379614;21505259;21555518;21559368;21795701;22247010;20301296 9723 C9JVH5;F8WCZ5;O15041 AACC02000015;AB002329;ABBA01045907;ABBA01058088;ABBA01058089;ABBA01058090;AC004954;AC006204;AC079799;AC079987;AK297209;AK303925;AMYH01017655;AMYH01017656;BC140706;BC144338;BC152458;CH236949;CH471091;CS067222;DA722912;DB215551;NG_021242;NM_001178129;NM_012431 AAC69513;AAI40707;AAI44339;AAI52459;AAS07487;AAS07488;BAA20789;BAG59693;BAG64853;CAI84574;EAL24186;EAW76983;NP_001171600;NP_036563;O15041 Hs.528721 1338488;1848595;1916756;2154169;5014051;5015619;5037552;7185346 D11S3114;D7S2540;D8S2278;D8S2279;G09563;GDB:1317544;REN29193 KIAA0331;M-SEMAH;M-SemaK;SEMAH;coll-5 OTTHUMP00000206419;OTTHUMP00000206420;semaphorin-3E APPROVED protein-coding ENSG00000170381 10727 11545 214800;608166 REVIEWED 1345838 SEMA4E sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4E 10506 10733 1348225 SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 7 7 7 q21.11 79328907 79455300 - 84462805 84589183 - 84624869 84751247 - 1580863;6480464 19054571;18818766;15489334;15329371;12975309;12853948;12690205;12477932;20684831;23685842;23372769 223117 C9JYT6;O95025 AACC02000015;ABBA01045884;ABBA01045885;ABBA01045886;AC004957;AK309116;AMYH01017662;AY358937;BC029590;BX648652;CH236949;CH471091;NM_152754 AAH29590;AAQ89296;ABM82491;ABM85679;EAL24184;EAW76974;EAW76975;EAW76976;EAW76977;NP_689967;O95025 Hs.201340 1337158;1770626;2133635;2219684;7185279 D7S1932;D7S524;RH48549;SEMA3D_2589 MGC39708;Sema-Z2;coll-2 OTTHUMP00000206138;collapsin 2;semaphorin-3D protein-coding ENSG00000153993 10726 15321 609907 VALIDATED 1318327 SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed 7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM, Mar 2008] 3 3 p21.3 50167852 50201512 + 50192848 50226508 + 1580863;6480464 8786119;19177200;18818766;18660502;17693432;17569671;17308083;15967098;15862967;15520858;15489334;12845630;12659673;12477932;10702410;10095013;9883722;8889548;8649831;8633026;8402908;8269517;7637782;7566098;9331348;15550623;18476556;20124444;15814794;20036365;16169070;19657188;19683737;19790074;19851296;20198310;20198315;20388805;23314748;21349996;22431917;21610314;22350413;21963094;23603393;22093159 6405 C9IYS6;C9J1V2;C9J4H5;C9JPG5;C9JQ85;H7C4A2;Q13275 AA378582;AB209259;ABBA01024553;ABBA01024554;AC000063;AC104450;AMYH01013168;BC042914;CB240860;CH471055;NM_004186;U32171;U32172;U33920;U38276 AAB06011;AAB06012;AAB18276;AAB46344;AAC50568;AAH42914;BAD92496;EAW65043;EAW65044;EAW65045;EAW65046;NP_004177;Q13275 Hs.32981 1738903;1793474;1798138;2113278;2113280;2113282;2113284;2113286;2113288;2113290;2113292;2113294;2113296;2113298;2113300;2113302;2113304;2113306;2113308;2113310;2139632;2158836 D3S3178;D3S4505;D3S4506;D3S4507;D3S4508;D3S4509;D3S4511;D3S4512;D3S4513;D3S4514;D3S4515;D3S4516;D3S4517;D3S4518;D3S4519;D3S4520;D3S4521;D3S4522;PMC22669P18;SEMA3F_2436;SGC31666;SHGC-76759 SEMA-IV;SEMA4;SEMAK OTTHUMP00000210657;OTTHUMP00000210658;OTTHUMP00000210669;sema III/F;sema IV;sema domain, immunoglobulin domain (Ig), short basic domain, secreted, 3F;semaphorin III/F;semaphorin IV;semaphorin-3F APPROVED protein-coding ENSG00000001617 10728 03079 601124 VALIDATED 1601989 SEMA3G sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 3 3 3 p21.1 52446585 52458288 - 52442308 52454083 - 52467268 52479043 - 6480464 12477932;18818766;18781179;15489334;14702039;11214971;19913121;20628086;20947821;21926972;22562223 56920 C9JXB2;H7C5M7;Q9NS98 AB029496;ABBA01024508;AC006208;AK024425;AMYH01013184;BC098104;BC098137;BC099724;CH471055;GN344113;NM_020163 AAH98104;AAH98137;AAH99724;BAA98132;BAB15715;CAY55992;EAW65225;NP_064548;Q9NS98 Hs.59729 1693574 SHGC-58480 FLJ00014;MGC119473;sem2 OTTHUMP00000213101;semaphorin sem2;semaphorin-3G protein-coding ENSG00000010319 30400 14251 PROVISIONAL 1354487 SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 2 2 2 q11.2 91965635 91975934 - 96889200 96899462 - 97525473 97535735 - 1580863;6480464 15489334;12975309;12477932;11214970;11162505;11134026;10318831;9464278;7656991;15978582;17498836;20959347;21139048;21890473 54910 C9J4M7;C9JV89;Q9C0C4 AB051526;ABBA01036573;ABBA01036574;AC092636;AF258577;AF370374;AK000376;AK075388;AK126512;AMYH01010726;AY358842;BC017476;BC062984;BC109103;BC109104;BI518922;CH471207;NM_017789 AAG23780;AAH17476;AAH62984;AAI09104;AAI09105;AAQ15210;AAQ89201;AAY14967;BAA91124;BAB21830;BAC11588;BAG54340;EAW71325;EAW71326;EAW71327;NP_060259;Q9C0C4 Hs.516220 1798140;1848143;5014051;5015619;5017726;5024761;5037552;5109281 D11S3114;D1S1425;D2S2834;D8S2278;D8S2279;RH36905;SEMA4C;SEMA4C_2477 FLJ20369;KIAA1739;M-SEMA-F;MGC126382;MGC126383;SEMACL1;SEMAF;SEMAI M-Sema F;OTTHUMP00000161095;semaphorin-4C protein-coding ENSG00000168758 10731 07257 604462 VALIDATED 1317317 SEMA4B sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B 15 15 15 q25 67132562 67177271 + 88529156 88573896 + 90728152 90772892 + 1580863;6480464 17081983;16335952;15489334;15340161;14702039;12975309;12477932;12123608;11214970;7748561;19913121;20628086;15978582;17213806;21139048;21906983;21963094 10509 H0YKP2;H0YKV7;H0YLN3;H0YM68;H0YMD6;H0YMR1;H0YMZ3;H0YN49;H0YNC4;H0YNM2;J3KNP4;Q9NPR2 AB051532;ABBA01053047;ABBA01053048;ABBA01053049;AC091167;AF258561;AK026108;AK026133;AK027083;AK289991;AL390080;AL390081;AL390082;AMYH01006921;AY358392;AY445887;BC010701;BC017658;BC019013;BC094849;BC110853;BC126438;BC144141;BX537671;CD109794;CH471101;NM_020210;NM_198925 AAG23764;AAH10701;AAH17658;AAH94849;AAI10854;AAI26439;AAQ88758;AAR15707;ADR83274;BAB15372;BAB21836;BAF82680;CAB98204;CAB98205;CAB98206;CAD97806;EAX02084;EAX02085;EAX02086;NP_064595;NP_945119;Q9NPR2 Hs.474935 1761925;1847840;2168262 A006E48;SHGC-145859;WI-20237 KIAA1745;MGC131831;SEMAC;SemC sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4B;semaphorin-4B protein-coding ENSG00000185033 10730 10217 VALIDATED 1321336 SEMA4G sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 10 10 10 q24.31 96470007 96483094 + 102722276 102735362 + 102732286 102745373 + 1580863;6480464 19047128;16189514;15489334;15164054;12593985;12477932;12471249;12432760;10997877;15978582;16385451;22990118;23275563 57715 E5RFG2;E5RGX4;H0YBN3;Q9NTN9;Q9NWU8 AB046839;ABBA01063212;ABBA01063213;AK000597;AK297431;AL133215;AMYH01003002;AW161452;BC020960;BC051030;BC053507;BC110382;BC128579;CH471066;NM_001203244;NM_017893 AAH20960;AAH51030;AAI10383;AAI28580;BAA91278;BAB13445;BAG59859;EAW49801;EAW49802;EAW49803;EAW49804;NP_001190173;NP_060363;Q9NTN9 Hs.591923;Hs.735152 1661698;1740033;2124195;2167592 D10S1629;D10S2273;SHGC-24148;STS-W80406 FLJ20590;KIAA1619;MGC102867 OTTHUMP00000020312;OTTHUMP00000020313;OTTHUMP00000224654;OTTHUMP00000224655;OTTHUMP00000224657;semaphorin-4G APPROVED protein-coding ENSG00000095539 10735 10218 REVIEWED 1321523 SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 9 9 q22.2 91181972 91284431 - 91975706 92094611 - 1580863;6480464 15613544;11254688;8876214;18025083;17520683;17244710;17213182;17081983;16754882;16263699;16055703;15632204;15489334;15164053;14707103;14702039;12958590;12882840;12539042;12477932;12406905;11937491;11254687;11181995;11114375;10520995;8969198;8955171;1530858;22606231;12730235;16188938;17786190;19805522;19957197;20237496;20379614;20877282;21812859;21925246;21244334;23564909;21538148;19788569;19322201;22652457;22189792;22863734;22111667;23335257;23376478 10507 C9JD54;C9JFP1;C9JYS7;E9PFD9;F5H044;Q92854 AB210030;ABBA01004609;ABBA01015390;AI055975;AJ420442;AK090804;AK091601;AK097056;AK128342;AK293749;AK316107;AL590233;AL929575;AMYH01021494;AMYH01021495;BC054500;BC137515;BC137518;BX648216;CH471089;DT220478;NM_001142287;NM_006378;U60800 AAC50810;AAH54500;AAI37516;AAI37519;BAC04938;BAE06112;BAG57171;BAH14478;EAW62765;EAW62766;EAW62767;EAW62768;EAW62769;EAW62770;EAW62771;EAW62772;NP_001135759;NP_006369;Q92854 Hs.494406 1657952;1680765;1683825;1773806;1786962;1796742;2119632;2144454;2163022;2164962;2169868 A004V46;D2S276;D9S1762;D9S2094;HSC09B052;RH12284;RH18172;RH48764;SEMA4D_1690;SHGC-144540;SHGC-24386 C9orf164;CD100;FLJ33485;FLJ34282;FLJ39737;FLJ46484;M-sema-G;MGC169138;MGC169141;SEMAJ;coll-4 A8;BB18;GR3;OTTHUMP00000021622;OTTHUMP00000208931;OTTHUMP00000208950;OTTHUMP00000208951;OTTHUMP00000208952;OTTHUMP00000208957;OTTHUMP00000240168;OTTHUMP00000240188;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4D;semaphorin-4D protein-coding ENSG00000187764 10732 03520 601866 VALIDATED 735857 SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 2 2 2 p13.1 74712502 74740294 + 74734901 74762693 + 74881393 74909185 + 69991;1580863;6480464 10051670 19056885;11256614;16381901;16303743;15815621;15489336;15489334;12477932;11901358;11483650;11230166;11076863;9856463;14702039;19047084;21136834;21625861;21945643;21925246;22685421 10505 B7Z931;C9JKW7;C9K0A1;F8WCP8;F8WD61;F8WEH3;O95754 AB021292;AB022317;ABBA01075609;ABBA01075610;AC007387;AF053369;AK075384;AK095587;AK291023;AK304358;AK308166;AK312728;AL136552;AMYH01010454;BC018361;BC038411;CH471053;CK905501;CS051179;DC306380;NM_001271661;NM_001271662;NM_004263;NR_073398;NR_073399 AAF80660;AAH18361;AAH38411;ABM86603;BAA75631;BAC11584;BAF83712;BAH14167;CAB66487;CAI72085;CAL38610;EAW99605;EAW99606;EAW99607;EAW99608;NP_001258590;NP_001258591;NP_004254;O95754 Hs.25887 1664335;1671538;1793734;1796744;1847189;2148764;2162179;5014051;5015619;5022200;5022651;5037552;5109362 A008R45;Cda10e10;D11S2921;D11S3114;D17S1239;D2S2657;D8S2278;D8S2279;L18426;PMC26812P2;SEMA4F_810;STS-F02243;WI-13990 M-SEMA;PRO2353;S4F;SEMAM;SEMAW;m-Sema-M OTTHUMP00000160410;OTTHUMP00000202702;sema M;sema W;sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4F;semaphorin 4f;semaphorin M;semaphorin-4F;semaphorin-M;semaphorin-W protein-coding ENSG00000135622 10734 04748 603706 REVIEWED 1318955 SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 3 3 3 q21.1 121038150 121153367 - 124110733 124229266 - 122628040 122747452 - 1580863;6480464 19463192;16344560;14702039;12975309;12477932;10819331;8817451;19913121;20628086;20379614;21642993;21900206 54437 B5ME80;B7Z2B3;C9JKR3;C9JTV9;C9JTX2;F8WAT5;H0Y5U2;Q9P283 AB040878;ABBA01016464;ABBA01016465;ABBA01016466;AC078794;AC083797;AC109130;AK001234;AK091481;AK291407;AK294528;AK295619;AK309834;AK309848;AMYH01013432;AY358124;BC002776;BC077726;CH471052;DA115188;DA797213;NM_001031702;NM_001256346;NM_001256347;NM_001256348;NR_046079 AAH77726;AAQ88491;BAA91570;BAA95969;BAF84096;BAH11799;BAH12129;EAW79457;EAW79458;NP_001026872;NP_001243275;NP_001243276;NP_001243277;Q9P283 Hs.210870 1710502;1721825;1779370;2132012;2140563;2218804 D3S1760;G59937;SEMA5B_4154;SHGC-153362;SHGC-86272;STS-AA026150 FLJ10372;KIAA1445;SEMAG;SemG OTTHUMP00000179160;OTTHUMP00000179161;OTTHUMP00000215810;semaphorin-5B APPROVED protein-coding ENSG00000082684 10737 15322 609298 VALIDATED 731900 SEMA6B sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 4481386 4497296 - 4493600 4509503 - 4542600 4559771 - 1580863;6480464 15340161;15177567;12975309;11350127;16344560;12477932 10501 Q9H3T3 AB022433;AB209278;ABBA01056060;ABBA01056061;ABBA01056062;AC011498;AF216389;AF293363;AI825930;AK300037;AMYH01009337;AV701490;AY358939;BC142617;CH471139;DA818632;DB257858;FR839673;NM_032108 AAF87661;AAI42618;AAK16831;AAQ89298;BAB20669;BAD92515;BAG61848;CCA61013;EAW69206;EAW69207;EAW69208;EAW69209;EAW69210;NP_115484;Q9H3T3 Hs.465642 SEM-SEMA-Y;SEMA-VIB;SEMAN;semaZ semaphorin VIB;semaphorin Z;semaphorin-6B;semaphorin-6Ba APPROVED protein-coding ENSG00000167680 10739 12322 608873 REVIEWED 1313551 SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011] 5 5 5 q23.1 111728814 111860108 - 115807150 115938450 - 115779251 115910551 - 1302316;1580863;6480464 10993894 15561718;19578876;18187809;17671748;16436660;16303743;14702039;12477932;12421765;10718198;9204478;19451621;20379614;11242070;22036096;22184411 57556 B3KU01;D6RAG9;D6RCR0;E7ERF3;E9PDV9;H0Y8V9;Q9H2E6 AB037789;ABBA01069023;AC008524;AC010296;AC027304;AF225425;AF279656;AK027439;AK027471;AK027501;AK027505;AK027654;AK027867;AK074975;AK096337;AK315143;AMYH01015564;BC032619;CH471086;CX164544;NM_020796 AAG09727;AAG29378;AAI56174;AAI72468;BAA92606;BAB55111;BAB55136;BAB55158;BAB55269;BAB55418;BAC11326;BAG37591;BAG53263;EAW48934;EAW48935;EAW48936;EAW48937;EAW48938;NP_065847;Q9H2E6 Hs.156967 1671118;1673014;1679688;1688528;1772463;1796746;1854558;1854912;2114620;2119792;2127009;2129813;2160177;2163632;2168281;2183561;5022737;5113367 D5S2407;RH18167;RH18405;RH36041;RH48072;RH65776;RH68760;RH91380;RH93004;RH93058;SEMA6A;SEMA6A_812;SGC33248;SHGC-35133;STS-N21368;STS-N27270;STS-W92748;WI-14893 HT018;KIAA1368;SEMA;SEMA6A1;SEMAQ;VIA OTTHUMP00000223008;OTTHUMP00000223009;OTTHUMP00000223010;SEMA6A-1;sema VIa;semaphorin 6A-1;semaphorin VIA;semaphorin-6A;semaphorin-6A-1 APPROVED protein-coding ENSG00000092421 10738 06906 605885 VALIDATED 1349692 SEN2 senescence (cellular)-related 2 7240710 2300822 6409 10745 612389 1345498 SEN3 senescence (cellular)-related 3 1576706 6410 10746 1347900 SEN6 senescence (cellular)-related 6 8706800 6411 10747 1343700 SEN6A senescence (cellular)-related 6A 8570202 6412 10748 1345722 SEN6B senescence (cellular)-related 6B 7520270 6413 10749 732717 SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010] 1 1 1 q21.2 124219448 124234432 - 149370785 149385728 - 151104161 151119140 - 633916;1580863;6480464 12110693 19054571;16710414;12878157;12477932;11347906;11245885;9110174;8619474;16344560 10500 Q96JF8 AB022434;AB058772;ABBA01049378;AF055020;AF339152;AF339153;AF339154;AK302862;AK311613;AL122064;AL592424;AMYH01001386;AU279414;BC114521;BC114623;BE253393;CH471121;DA787858;NG_029237;NM_001178061;NM_001178062;NM_030913 AAC09365;AAI14522;AAI14624;AAL72098;AAL72099;AAL72100;BAB20670;BAB47498;BAG64046;CAB59243;EAW53469;EAW53470;EAW53471;EAW53472;NP_001171532;NP_001171533;NP_112175;Q9H3T2 Hs.516316 1734402;1769532 D1S1757E;RH47819 SEMAY;m-SemaY;m-SemaY2 OTTHUMP00000014154;OTTHUMP00000014155;OTTHUMP00000014156;OTTHUMP00000014157;sema Y;semaphorin 6c;semaphorin-6C;semaphorin-Y APPROVED protein-coding ENSG00000143434 10740 10220 609294 REVIEWED 1318544 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010] 5 5 p15.2 9088138 9599233 - 9035138 9546233 - 1580101;1580863;6480464 9464278 9049630;19329067;18950607;18628988;18519826;18029348;17028446;16481103;16344560;16252231;15489334;15372022;15302935;15218527;14702039;12477932;8889548;8817451;20073063;19913121;20628086;19812673;19957501;20379614;20696765;20802022;22782341;21706053;21890473;22229870;23251661 9037 D6R9K6;D6RAF4;H0Y9H9;Q13591 ABBA01020588;ABBA01020589;ABBA01020590;ABBA01020591;AC004615;AC021088;AC022446;AC027335;AC027336;AC034214;AC091906;AF009314;AF056434;AK022877;AK293441;AK307587;AMYH01014898;AMYH01014899;AMYH01014900;AMYH01014901;BC115696;BM669539;CH471102;CX788776;DA336109;NG_016410;NM_003966;U52840 AAC09473;AAC14668;AAI15697;BAG56944;EAX08078;EAX08079;NP_003957;Q13591 Hs.27621 1334984;1336464;1654481;1654483;1670800;1684230;1718553;1733676;1733680;1733682;1733684;1733688;1765797;1785464;1798142;1852091;1854607;2123866;2137843;2150799;2155196 A005Z39;D5S1512E;D5S1514E;D5S1515E;D5S1516E;D5S1518E;D5S1842;D5S1880;D5S2095;D5S807;G20633;RH122478;RH12734;RH45272;RH46269;RH65788;RH92606;SEMA5A_1487;SHGC-149224;SHGC-149507;STS-U10508 FLJ12815;SEMAF;semF OTTHUMP00000115584;sema F;semaphorin F;semaphorin-5A;semaphorin-F APPROVED protein-coding ENSG00000112902 10736 10219 609297 REVIEWED 1605040 SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010] 15 15 15 q21.1 24903126 24958881 + 45797978 45853712 + 47476403 48066420 + 6480464 11102867;14977921;14702039;12477932;12110693;11842242;10819331;16715077;17143962;19913121;20628086;18029348;22911880 80031 A6NM95;H0YL82;H0YM97;H0YMA6;H0YMP7;H0YMV0;Q9P249 AB040912;ABBA01039148;ABBA01039149;ABBA01039150;ABBA01039151;ABBA01039152;ABBA01039153;AC009558;AC012050;AC018900;AC023905;AC044787;AC066615;AC084882;AF389426;AF389427;AF389428;AF389429;AF389430;AK021660;AK022747;AK022831;AK290032;AMYH01006626;AMYH01006627;BC004330;BC150253;CH471082;CS000930;GM708668;GM708670;GM708672;GM708674;GM708676;GM708678;NG_029119;NM_001198999;NM_020858;NM_024966;NM_153616;NM_153617;NM_153618;NM_153619 AAI50254;AAM69449;AAM69450;AAM69451;AAM69452;AAM69453;BAA96003;BAB13869;BAB14221;BAB14264;BAF82721;CAI48006;CAT82582;CAT82584;CAT82585;CAT82587;CAT82590;CAT82592;EAW77332;EAW77333;NP_001185928;NP_065909;NP_079242;NP_705869;NP_705870;NP_705871;NP_705872;Q8NFY4 Hs.511265 1337686;1685071;1722055;1796748;1854929;2113852;2140588;2154873;2161056 AB063027;AFM205ye1;D15S1188;D15S1223;D15S123;D15S666;G09531;G59914;SEMA6D_1632 FLJ11598;KIAA1479 semaphorin-6D APPROVED protein-coding ENSG00000137872 16770 10221 609295 REVIEWED 1345967 SEMG2 semenogelin II The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jul 2008] 20 20 q12-q13.1 43283424 43286513 + 43850010 43853099 + 1580863;6480464 1517240;19089943;18714013;18482984;17683036;15563730;15531881;14629036;14581514;12477932;12399526;12200457;11784334;11780052;11027412;10411640;9523691;9128720;8833737;8665956;8665951;8654389;2757795;1584792;21557275;23077236;22177559;22118674;19380743 6407 Q02383;Q6IRW3 ABBA01052657;AK312932;AL049767;AMYH01011937;AY259284;AY259285;AY259286;BC005262;BC056675;BC070306;CH471077;M81651;M81652;NM_003008;Z47556 AAA60313;AAA60562;AAH05262;AAH70306;AAP86625;AAP86626;AAP86627;BAG35775;CAA87637;EAW75870;NP_002999;Q02383 Hs.537218 5126696 STS-M81652 SGII OTTHUMP00000031099;Semenogelin 2;semenogelin-2 APPROVED protein-coding ENSG00000124157 10743 01642 182141 REVIEWED 1313074 SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 15 15 q22.3-q23 72489376 72513329 - 74701630 74726299 - 1580863;6480464;7240710 22891341;17474147;9721204;19318806;18987670;18422858;17671519;17485510;17377534;17207242;16372136;16344560;16199891;15907379;15489334;14702039;12477932;12193228;10520995;10416131;10201933;9712866;10885563;12879062;22837378;20854351;20727575;21524887;22448926;23166499;22845496 8482 F5GYX3;H3BMF9;O75326 ABBA01060488;AC012435;AC090826;AF030697;AF030698;AF069493;AF071542;AK001895;AK293280;AK312257;AM180445;AM180446;AM180447;AM180448;AM180449;AM180450;AM180451;AMYH01006792;AY885237;BC101643;BC101647;BU191525;CH471136;DA136330;DC408557;NG_011733;NM_001146029;NM_001146030;NM_003612 AAC34261;AAC34741;AAC80456;AAC82642;AAI01644;AAI01648;AAW62253;BAG35189;BAG50988;BAG56808;CAJ55398;CAJ55399;CAJ55400;CAJ55401;CAJ55402;CAJ55403;CAJ55404;EAW99340;NP_001139501;NP_001139502;NP_003603;O75326 Hs.24640 1796750 SEMA7A_817 CD108;CDw108;H-SEMA-K1;H-Sema-L;JMH;MGC126692;MGC126696;SEMAK1;SEMAL JMH blood group antigen;John Milton Hagen blood group H-Sema K1;OTTHUMP00000176868;john-Milton-Hargen human blood group Ag;sema K1;sema L;sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group);sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A;sema domain, immunoglobulin domain (ig), and gpi membrane anchor, (semaphorin) 7a;semaphorin K1;semaphorin L;semaphorin-7A;semaphorin-K1;semaphorin-L APPROVED protein-coding ENSG00000138623 10741 07081 607961;614745 REVIEWED 1312139 SENP5 SUMO1/sentrin specific peptidase 5 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009] 3 3 3 q29 195180606 195248200 + 198079174 198142496 + 196594727 196661585 + 737633;1580863;6480464 12477932 19015314;18949399;16738315;16608850;15489334;10806345 205564 B4DY82;C9JHT8;H7C2F8;H7C424;Q96HI0 ABBA01033759;ABBA01033760;ABBA01033761;AC011322;AC016949;AC127904;AF335474;AK124389;AK302305;AK313764;AL049229;AMYH01013799;BC000958;BC008589;BC013799;BC030705;BC036626;CH471191;DC399261;NM_152699 AAH08589;AAH30705;AAK69630;ABM81775;ABM84929;BAG36502;BAG63644;EAW53625;EAW53626;EAW53627;EAW53628;EAW53629;NP_689912;Q96HI0 Hs.240770 1769497;1777886;1854451;2108453;2116805;2117359;2137870;2176893;5015961;5016478;5017266;5020948;5022578;5037552;5108927 D15S1477;D17S1140;D1S1423;D3S4241;D8S2279;G16548;G35510;GDB:434012;L18506;RH78367;SENP5_8156;SGC33427;SHGC-77697;SHGC-77715;STS-AA007591 DKFZp564O1016;FLJ42398;MGC27076 OTTHUMP00000208184;OTTHUMP00000208185;OTTHUMP00000208186;sentrin-specific protease 5;sentrin/SUMO-specific protease SENP5 APPROVED protein-coding ENSG00000119231 28407 10222 612845 VALIDATED 1349203 SEMG1 semenogelin I The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. The prostate-specific antigen (PSA) protease processes this protein into smaller peptides, with each possibly having a separate function. The proteolysis process breaks down the gel matrix and allows the spermatozoa to move more freely. [provided by RefSeq, Jul 2009] 20 20 q12-q13.2 43269088 43271823 + 43835638 43838414 + 1580863;6480464 21557275;2912989;1517240;19089943;18714013;18482984;18468680;18314226;17683036;17680810;17624925;16713569;16582407;16344560;15962837;15930278;15590901;15563730;15489334;14629036;14613901;14581514;14562960;12771235;12477932;12399526;12200457;11870067;11784334;11780052;11027412;10412373;10411640;9523691;9092810;8833737;8665951;8654389;8444163;6698208;6484484;6422553;3972122;3889920;2757795;21319273;19241194;19889947;20378931;22617231;23077236;23085372;19850743;22118674;22177559;21525168;19380743;22699487 6406 Q6Y808;Q86U64 AA687874;ABBA01052657;AL049767;AMYH01011937;AY174423;AY174424;AY174437;AY174446;AY174447;AY174448;AY256465;AY256466;AY256467;AY256468;AY256469;BC005229;BC007096;BC011442;BC055416;BT007177;CH471077;DA874748;J04440;M81650;NM_003007;Z47556 AAA18168;AAB59506;AAH05229;AAH07096;AAH55416;AAO20112;AAO20113;AAO20126;AAO20127;AAO20128;AAO20129;AAP35841;AAP82462;AAP82463;AAP82464;AAP82465;AAP82466;CAA87636;EAW75871;EAW75872;NP_002998;P04279 Hs.1968 2177797 RH71011 CT103;FLJ78262;MGC14719;SEMG;SGI;dJ172H20.2 OTTHUMP00000031098;cancer/testis antigen 103;semen coagulating protein;semenogelin-1 APPROVED protein-coding ENSG00000124233 10742 01641 182140 REVIEWED 1321080 SENP1 SUMO1/sentrin specific peptidase 1 This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 12 12 q13.1 46723024 46785908 - 48436681 48500091 - 1580863;6480464 10652325;18616636;18474224;18219322;17704192;17099698;16925949;16712526;16553580;16253240;15923632;15917269;15820677;15701643;15489334;15487983;15199155;14563852;12477932;12466471;15546615;1087798;18029348;19116244;20079608;20337593;19622798;16699503;20841360;21106093;20603076;21505236;21832049;23002208;21669491;21791615;17000875;22878415;21890473;21252943;15105549;16009940;19322201;20212317;22370484;22194619;22493095;17981124;22797925;22748127 29843 F8VRZ8;F8W0I8;Q6N001;Q7Z3G1;Q9P0U3 ABBA01031473;ABBA01031474;ABBA01031475;AC004801;AF149770;AK292060;AK312874;AL582855;AMYH01004428;AMYH01004429;BC045639;BI560893;BX537920;BX640784;CH471111;NM_001267594;NM_001267595;NR_051991;NR_051992 AAF31171;AAH45639;BAF84749;CAD97903;CAE45874;EAW57971;EAW57972;NP_001254523;NP_001254524;Q9P0U3 Hs.744287 1657006;1674816;1677300;1714285;1736316;1851083;2164207;2176542;2217050;2217952 ATP6V1F_3928;D12S1251E;D12S1814;D12S1957;RH119921;RH47543;RH48837;RH66140;RH98806;SENP1_3815 SuPr-2 OTTHUMP00000242414;OTTHUMP00000242415;OTTHUMP00000242416;SUMO1/sentrin specific protease 1;sentrin-specific protease 1;sentrin/SUMO-specific protease SENP1 APPROVED protein-coding ENSG00000079387 17927 07153 612157 REVIEWED 1351152 SENP2 SUMO1/sentrin/SMT3 specific peptidase 2 SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004] 3 3 q27.2 186786725 186831583 + 185304031 185348889 + 1580863;6480464;6907045 22155005;11896061;12192048;17099700;16738331;15489334;15296745;14702039;12477932;12419228;12168954;11997515;11489887;10718198;16169070;22031293;15896780;20337593;18029348;20098747;19394292;21183956;21832049;21777808;15958389;19953087;22028379;17081986;19322201;21988832;23092970;23098437;14673145;22626734 59343 B4DQ42;C9IYB7;F8WCX8;F8WED6;F8WED7;F8WET6;H7C1A0;J3KQD2;Q9HC62 ABBA01058411;ABBA01058412;ABBA01058413;ABBA01058414;ABBA01058415;ABBA01058416;ABBA01058417;AC016961;AC133473;AF151697;AK027599;AK074357;AK296744;AK296772;AK298628;AK304402;AL834380;AMYH01013728;BC018020;BC040609;CH471052;NM_021627 AAG15309;AAH40609;BAB55222;BAG59328;BAG59351;BAG60804;BAG65236;CAD39043;EAW78214;EAW78215;EAW78216;EAW78217;NP_067640;Q9HC62 Hs.401388 1656965;1684040;2137038;2168851 Cda0da04;D3S3113;RH92734;SHGC-24167 AXAM2;DKFZp762A2316;KIAA1331;SMT3IP2 OTTHUMP00000210348;SMT3-specific isopeptidase 2;sentrin-specific protease 2;sentrin/SUMO-specific protease SENP2 APPROVED protein-coding 23116 07002 608261 VALIDATED 1313579 SENP7 SUMO1/sentrin specific peptidase 7 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] 3 3 3 q12 99434719 99624210 - 102525807 102714775 - 101043117 101232085 - 1580863;6480464 10652325;11256614;18799455;17081983;16381901;15489336;12477932;11230166;11214970;11076863;23045645;20562864;16147992;21878624 57337 H7C1X8;J3QT09;Q9BQF6 AB051494;ABBA01061775;ABBA01061776;ABBA01061777;ABBA01061778;ABBA01061779;AC068764;AC073861;AC110994;AF199458;AF217504;AK297356;AL136599;AL833577;AMYH01013359;AMYH01013360;BC039900;BC062674;BC129988;BX537943;CH471052;NM_001077203;NM_020654 AAG09703;AAI29989;AAL25651;BAB21798;BAG59804;CAB66534;CAD97911;CAL37498;CAL37839;CAL37848;CAL38318;EAW79796;EAW79797;EAW79798;EAW79799;EAW79800;EAW79801;EAW79802;NP_001070671;NP_065705;Q9BQF6 Hs.529551 1706398;1710994;2128568;2133965;2184426;5093506 A009P48;D3S3056;G32758;SHGC-77165;SHGC-80773;SHGC-84875 KIAA1707;MGC157730 OTTHUMP00000195146;OTTHUMP00000195147;OTTHUMP00000195148;OTTHUMP00000195149;OTTHUMP00000195150;SUMO-1-specific protease 2;sentrin-specific protease 7;sentrin/SUMO-specific protease SENP7 APPROVED protein-coding ENSG00000138468 30402 07154 612846 VALIDATED 5133403 SEPHS1P2 selenophosphate synthetase 1 pseudogene 2 15 15 70385468 70386028 - 93973886 93974446 - 100420292 ABBA01053109;AC091078;AMYH01006940;NG_025354 pseudo 42162 INFERRED 5133405 SEPHS1P3 selenophosphate synthetase 1 pseudogene 3 5 175556716 175557297 - 100420189 ABBA01000568;AC139491;AMYH01015856;NG_024643 pseudo 42163 INFERRED 5133410 SEPHS1P4 selenophosphate synthetase 1 pseudogene 4 X X X q13.2 73272560 73273732 + 72905671 72908065 + 72989083 72990255 + 389873 ABBA01059646;ABBA01059647;AL356513;AMYH01022611;NG_022673 pseudo 42169 INFERRED 5133390 SEPHS1P5 selenophosphate synthetase 1 pseudogene 5 5 5 14984189 14985317 + 14960376 14961504 + 20379614 100420190 ABBA01020645;AC016575;AMYH01014923;NG_024654 1724337 RH119091 pseudo 42165 INFERRED 5133407 SEPHS1P6 selenophosphate synthetase 1 pseudogene 6 2 2 2 q33.1 194279540 194280710 + 200053121 200234360 + 200524274 200525444 + 729399 ABBA01062507;AC017096;AC079609;AC093590;AMYH01011394;NG_021597 1674741;1680264;1703788;1706770;1724137;2108457 RH11181;RH121203;SEPHS1_9288;SHGC-53751;SHGC-79111;SHGC-80853 pseudo 42168 INFERRED 1323815 SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009] 17 17 p13 7406043 7416011 + 7465309 7475287 + 1580863;6480464 19015314;18946085;18639523;18259216;17081983;16738315;16608850;16565220;16381901;15743823;15635413;15632193;15489336;15489334;15231748;14702039;12477932;11256614;11230166;11076863;11029585;10806345;18948745;22684029;19913121;20628086;21316347;15960975;19423540;19680224;19773279;20181954;20337593;20406964;20438785;19394292;19454010;19622798;20924358;22939629;17283066;20442285;23524851;23667531;21331046;21415862;21139048;21890473;22094256;22190735;23118916;22505724;22626734 26168 J3KNH7;J3KSF5;J3QL36;J3QRE4;Q9H4L4 ABBA01054873;AC016876;AF199459;AK000923;AL050283;AL557688;AL834294;AMYH01008084;AMYH01008085;AY008763;BC048306;BC080658;BF514106;BQ424754;BQ956948;CH471108;CX165088;NM_015670 AAG33252;AAH48306;AAH80658;AAL25652;CAB43384;CAD38967;CAL37577;CAL37586;EAW90170;EAW90171;EAW90172;NP_056485;Q9H4L4 Hs.513926;Hs.733104 1655535;1676458;2129984 RH16009;RH75761;SHGC-56910 DKFZp586K0919;DKFZp762A152;SMT3IP1;SSP3;Ulp1 SUMO-1-specific protease 3;sentrin-specific protease 3;sentrin/SUMO-specific protease 3;sentrin/SUMO-specific protease SENP3 APPROVED protein-coding ENSG00000161956 17862 08339 612844 VALIDATED 5133409 SEPHS1P7 selenophosphate synthetase 1 pseudogene 7 2 2 2 q14.1 108338913 108339704 - 114734093 114745224 - 115017626 115018417 - 391428 ABBA01045976;AC105050;AMYH01010970;NG_021519 pseudo 42167 INFERRED 1312076 SENP6 SUMO1/sentrin specific peptidase 6 Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] 6 6 q13-q14.3 76368342 76484714 + 76311622 76427997 + 1580863;6480464 14563852;18799455;17081983;17000875;16912044;15489334;15302935;14702039;14574404;12477932;12354770;11278381;10806345;10799485;9872452;21148299;20212317;18029348;16699503;20603076;17704809;21878624;22118674;21693764;20881960;21145461 26054 B3KMM0;D6RG09;D6RJH1;E7EQN6;F8W6D9;H0Y4F4;H0Y8Y8;Q9GZR1 AA768785;AB018340;ABBA01040358;ABBA01040359;ABBA01040360;AF196304;AF306508;AF307849;AI732829;AJ710192;AK001406;AK021417;AK021949;AK096455;AK126921;AL109897;AL355797;AL356057;AL589656;AMYH01016439;AMYH01016440;BC028583;CH471051;CR990444;NM_001100409;NM_015571 AAF04852;AAG29831;AAG30253;AAH28583;BAA34517;BAC04794;BAG50906;BAG51032;BAG51063;BAG54398;EAW48733;EAW48734;EAW48735;EAW48736;NP_001093879;NP_056386;Q9GZR1 Hs.485784 1666525;1673977;1728325;1770297;1851905;1852081;2132805;2149665;2162017;2218600 D6S1226E;D6S1339;G63444;RH46771;RH69973;SENP6__3808;SHGC-33979;SHGC-34466;STS-R89090;WI-11925 FLJ11355;FLJ11887;KIAA0389;KIAA0797;SSP1;SUSP1 2810017C20Rik;OTTHUMP00000016757;OTTHUMP00000220703;OTTHUMP00000220706;SUMO-1-specific protease 1;SUMO1/sentrin specific protease 6;sentrin-specific protease 6;sentrin/SUMO-specific protease SENP6 APPROVED protein-coding ENSG00000112701 20944 05417 605003 VALIDATED 736154 SEP15 15 kDa selenoprotein This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies in mouse suggest that this selenoprotein may have redox function and may be involved in the quality control of protein folding. This gene is localized on chromosome 1p31, a genetic locus commonly mutated or deleted in human cancers. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p31 87100716 87152695 - 87328128 87380107 - 6480464 15198809;9535873;11278576;18676680;18239845;16710414;15489334;15107826;12665801;12600282;12477932;11898406;11230166;10945981;8125298;21145461;19170196;19625176;19692168;20378690;20424130;20852007;21048031;21052528;21900206;21139048 9403 O60613 ABBA01045610;AF051894;AF267982;AF288991;AF288992;AK225252;AK225640;AL121989;AL833575;AMYH01000768;AMYH01000769;BC005294;BC016359;BC021697;BQ429619;BU941543;CB066894;CH471097;NM_004261;NM_203341 AAC15478;AAF78966;AAG31556;AAG31557;AAH05294;AAH16359;AAH21697;CAJ18323;EAW73176;EAW73177;EAW73178;EAW73179;EAW73180;NP_004252;NP_976086;O60613 Hs.362728 1698704;1712084;1712240;2165655;2169996;2181362 AL009717;D1S3349;G54028;G54091;RH102912;SHGC-75087 15 kDa selenoprotein;OTTHUMP00000010189;OTTHUMP00000010190;OTTHUMP00000010191;selenoprotein APPROVED protein-coding ENSG00000183291 09376 606254 REVIEWED 5490855 SEPHS1P1 selenophosphate synthetase 1 pseudogene 1 7 7 q11.21 63947506 63962280 - 64311698 64313827 - 12477932 168474 ABBA01027986;AC073349;AMYH01017436;NG_029998 SEPHS1P pseudo 42161 INFERRED 1322506 SEPHS1 selenophosphate synthetase 1 This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010] 10 10 10 p14 13287201 13317394 - 13400086 13430286 - 13359438 13390298 - 1580863;6480464;6907045 7665581;16786570;16262699;16189514;16169070;15534230;15489334;12477932;21145461;23112913;16385451;20471958;22939629;21139048;21890473;19322201;23000965;23382691 22929 P49903;Q5T5U6;Q5T5U7 ABBA01034627;ABBA01034628;ABBA01034629;AK125066;AK297129;AK301568;AK309829;AL138764;AL355870;AL557595;AL579174;AMYH01002042;AMYH01002043;BC000941;BC063816;BC064610;CH471072;CT000832;GU954545;GU954546;GU954547;GU954548;GU954549;HH961864;NM_001195602;NM_001195604;NM_012247;U34044 AAA87567;AAH00941;AAH63816;ABM85063;ADF78120;ADF78121;ADF78122;ADF78123;ADF78124;BAG59633;BAG63062;CBX51405;EAW86289;EAW86290;EAW86291;EAW86292;EAW86293;NP_001182531;NP_001182533;NP_036379;P49903 Hs.124027 1680264;1694446;1767321;2108457;2140763;5016670;5124576 G42936;RH11181;RH27227;RH36724;RH48902;SEPHS1_9288;WI-22046 MGC4980;SELD;SPS;SPS1 OTTHUMP00000019139;OTTHUMP00000019140;selenide, water dikinase 1;selenium donor protein 1;selenophosphate synthase 1;selenophosphate synthetase 1 +E9;selenophosphate synthetase 1 +E9a;selenophosphate synthetase 1 delta E2;selenophosphate synthetase 1 delta E8;selenophosphate synthetase 1 major APPROVED protein-coding ENSG00000086475 19685 02944 600902 REVIEWED 1320576 SENP8 SUMO/sentrin specific peptidase family member 8 This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 15 15 q23 70197808 70220358 + 72406599 72433311 + 1580863;6480464 15567417;15775960;15489334;15242646;14702039;12759363;12759362;12730221;12477932;17440617;15146197;15342556;16344560;17591783;18666185;19328766;19784069;16998474;23246961;22388932;22118674;22110750;23319000;23408908;23209320;20190741;22626734;23001041 123228 A8K8D3;H3BS71;H3BTJ8;H3BTK5;Q96LD8 ABBA01038736;ABBA01038737;AC020779;AF308450;AK097557;AK292298;AMYH01006759;AY008293;BC031411;BP370384;CH471082;CN367895;CS300645;DB033241;DB048641;NM_001166340;NM_001172109;NM_001172110;NM_001172111;NM_145204 AAG21828;AAH31411;AAL06294;ABM81728;ABM84883;BAF84987;CAK32309;EAW77881;NP_001159812;NP_001165580;NP_001165581;NP_001165582;NP_660205;Q96LD8 Hs.513002 1852229;2108455;2121197;2186525 D15S1331;SENP8_8135;SGC33966;STS-R02756 DEN1;HsT17512;NEDP1;PRSC2 NEDD8 specific-protease cysteine 2;NEDD8-specific protease 1;OTTHUMP00000164640;SUMO sentrin specific protease family member 8;deneddylase 1;deneddylase-1;protease, cysteine 2;sentrin-specific protease 8 APPROVED protein-coding ENSG00000166192 22992 09784 608659 REVIEWED 5131838 SEPT10P1 septin 10 pseudogene 1 8 8 8 q12.1 53380185 53381445 - 57551877 57615579 - 57389389 57390649 - 389662 ABBA01041771;AC012349;AC013644;AMYH01018736;NG_022390 1335996;1340576;1644747;1676526;1704976;1714571;1731989;1772373 D8S1102;D8S166;D8S444;D8S583;RH119799;RH12491;RH92188;SHGC-77990 DKFZP564M1416 pseudo 40018 INFERRED 1603617 SEPN1 selenoprotein N, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.13 25999254 26017300 + 26126667 26144713 + 6480464;7240710 20937510;10608886;17474147;19557870;19067361;18713863;16779558;16710414;16498447;16365872;15961312;15792869;15668457;15489334;15122708;12700173;12477932;12192640;11528383;9585610;8833144;21048031;18841251;22527882;21241449;21670436;20301436;21906983;20301467;20301468;19322201 57190 H9KV50;Q9NZV5 AA613025;ABBA01034886;ABBA01034887;AF166125;AJ306398;AJ306399;AK172860;AK308457;AL020996;AL110205;AMYH01000394;BC005881;BC015638;BC021028;BC033244;BC042154;BC107036;BQ217758;NG_009930;NM_020451;NM_206926 AAF21430;AAH15638;AAH42154;AAI56072;CAC83790;CAC83791;NP_065184;NP_996809;Q9NZV5 Hs.323396 1336312;2114612;2149578;5022200;5022588;5037552;5094024 A010A48;D1S2885;D5S1597E;D8S2279;G33062;L18426;SHGC-74434 CFTD;FLJ24021;MDRS1;RSMD1;RSS;SELN OTTHUMP00000008506;OTTHUMP00000008507;selenoprotein N APPROVED protein-coding ENSG00000162430 15999 05867 255310;602771;606210 REVIEWED 1606287 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011] 4 4 p15.2 24732820 24771083 - 25121627 25162204 - 6480464;6907045 17194211;17142313;16344560;16230358;12477932;11826415;11230739;10931155;10801173;20920667;20623998;15146197;19608919;19683415;20471133;23112913;22190034 51091 D6R969;H0Y9D2;J3KP25;Q9HD40 ABBA01032690;ABBA01032691;AC007073;AC104662;AF146396;AF282065;AJ238617;AJ277541;AK292476;AL133065;AMYH01014066;AMYH01014067;AW515989;BC012188;BC023539;BC117202;BC126213;BX648976;CH471069;CN429794;DA155173;NG_028222;NM_016955 AAD33963;AAG00491;AAH23539;AAI17203;AAI26214;ACE86809;ACE87496;BAF85165;CAB62209;CAB89517;EAW92831;EAW92832;EAW92833;EAW92834;EAW92835;NP_058651;Q9HD40 Hs.253305 1696158;1751453;2116128;2121910 RH46210;SHGC-105226;SHGC-64855;SHGC-79143 DKFZp434B1417;LP;MGC161491;PCH2D;SLA;SLA/LP O-phosphoseryl-tRNA(Sec) selenium transferase;OTTHUMP00000158713;OTTHUMP00000218475;SLA-p35;SLA/LP autoantigen;UGA suppressor tRNA-associated protein;liver-pancreas antigen;sec synthase;selenocysteine synthase;selenocysteinyl-tRNA(Sec) synthase;sep-tRNA:Sec-tRNA synthase;soluble liver antigen;soluble liver antigen/liver pancreas antigen;tRNA(Ser/Sec)-associated antigenic protein APPROVED protein-coding ENSG00000109618 30605 11561 613009;613811 REVIEWED 1318823 SEPHS2 selenophosphate synthetase 2 This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. This protein itself contains a selenocysteine residue in its predicted active site. The 3' UTR of the gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which allows UGA to direct the incorporation of selenocysteine rather than signal a translational stop. Alternatively spliced transcripts have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 29841772 29844044 + 30362453 30364725 - 30454952 30457224 - 1580863;6480464;6907045 8986768;15534230;15489334;14702039;12477932;10608886;7588067;22939629;21139048 22928 F5H8F9;J3KR58;Q8N9T3;Q99611 ABBA01042026;AC116348;AK092003;AK093889;AK303275;AMYH01007497;BC002381;BC016643;CH471192;NM_012248;U43286 AAC50958;AAH02381;AAH16643;BAC03787;BAC04245;BAG64355;EAW52246;NP_036380;Q99611 Hs.118725 1797186 SPS2 SPS2;SPS2b OTTHUMP00000045871;selenide, water dikinase 2;selenide,water dikinase 2;selenium donor protein 2;selenophosphate synthase 2 APPROVED protein-coding ENSG00000179918 19686 12096 606218 REVIEWED 1602813 SEPT14 septin 14 SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008] 7 7 7 p11.2 66914266 66984265 - 55828731 55897976 - 55861237 55930482 - 6480464 17922164;16344560 346288 Q6ZU15 ABBA01061827;ABBA01061828;ABBA01061829;ABBA01061830;ABBA01061831;ABBA01061832;AC092647;AI337138;AK126048;AK301928;AL041480;AMYH01017274;AMYH01017275;CH471140;DB087561;DB341209;DC400351;NM_207366 AAI46358;AAI53167;BAC86412;BAG63348;EAX07958;EAX07959;NP_997249;Q6ZU15 Hs.453629 5016478 GDB:434012 FLJ44060 OTTHUMP00000159695;septin-14 APPROVED protein-coding ENSG00000154997 33280 16972 612140 VALIDATED 6482018 SEPT2P1 septin 2 pseudogene 1 1 106240652 106240849 + 100873333 ABBA01028440;AL589665;AMYH01000879;NG_032370 pseudo 40017 INFERRED 737591 SEPP1 selenoprotein P, plasma, 1 This gene encodes a selenoprotein containing multiple selenocysteine (Sec) residues, which are encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is an extracellular glycoprotein, and is unusual in that it contains 10 Sec residues per polypeptide. It is a heparin-binding protein that appears to be associated with endothelial cells, and has been implicated to function as an antioxidant in the extracellular space. Several transcript variants, encoding either the same or different isoform, have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q31 42835739 42847781 - 42799982 42812024 - 1580863;6480464 8421687;2037562;14718574;19215687;19074884;18977241;18676680;18483336;17986007;17961124;17937618;17601350;17536041;17511039;16344560;16335952;15489334;14702039;12477932;12423375;12173025;11442337;11280803;11278668;10782998;10775431;9918658;9915822;9735174;8884283;8142465;8125298;7931697;20565998;21988832;23056383;23129481;20875901;17245539;19170196;19453253;19625176;19692168;19747622;19779296;20178852;20237496;20378690;20542496;19513589;20029029;20521393;20360971;20800603;20852007;21052528;21035759;21456065;22932905;21677040;15604093;22496878;16335786 6414 D6REX5;D6RIS9;P49908;R4GMT5 ABBA01024242;AC008945;AK094640;AK096125;AK225801;AK311392;AL833145;AMYH01015053;AU136519;BC005244;BC015875;BC030009;BC040075;BC046152;BC058919;BI463468;CH471119;DQ022288;NM_001085486;NM_001093726;NM_005410;Z11793 AAH15875;AAH40075;AAH46152;AAH58919;AAY26400;CAA77836;EAW56026;EAW56027;EAW56028;EAW56029;EAW56030;EAW56031;EAW56032;NP_001078955;NP_001087195;NP_005401;P49908 Hs.275775;Hs.745017 1682870;1768235;1856704;2134582;2134584;2139739;2152600;5092784 A006E08;D5S2379;G32328;HUM000AA35;HUM00D2F10;RH78323;STS-Z11793;WI-11922 SELP;SeP OTTHUMP00000221366;OTTHUMP00000221367;OTTHUMP00000221368;OTTHUMP00000221369;OTTHUMP00000221370;selenoprotein P APPROVED protein-coding ENSG00000250722 10751 03286 601484 REVIEWED 1316277 SEPT1 septin 1 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012] 16 16 p11.1 30296957 30301672 - 30389454 30394171 - 1580863;6480464 21809895;23087102;17912427;16189514;16179162;15489334;12747765;12477932;9811347;8590280;2174398;12475938;15915442;17967425;19799413;20136629;20236126;21082023;23314748;21832049;8889548;19850743;22145905;22505724 1731 H3BS29;H3BS52;I3L2M1;J3KNL2;Q8WYJ6 ABBA01042021;AC116348;AC127457;AF085235;AF308288;AK301045;AK303390;AL833004;AMYH01007497;AY034176;BC012161;BM663465;BQ072902;CH471192;NM_052838 AAG48256;AAH12161;AAK61491;AAL40393;BAG62658;BAG64446;CAH56484;EAW52252;EAW52253;NP_443070;Q8WYJ6 Hs.632176 1663773;1683868 G30670;RH66827 DIFF6;LARP;MGC20394;PNUTL3;SEP1 OTTHUMP00000045869;differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase);peanut-like protein 3;septin-1;serologically defined breast cancer antigen NY-BR-24 APPROVED protein-coding ENSG00000180096 2879 15324 612897 REVIEWED 1606447 SEPT10 septin 10 This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] 2 2 2 q13 104469162 104540564 - 109657665 109729072 - 110300374 110371783 - 6480464 12477932;17657217;15815621;15489334;14702039;12711328;21145461;17207965;22863883;22939629;21139048;21906983;19531213;22320903 151011 B5ME97;B7Z277;B7Z371;C9JEQ7;C9JEW2;C9JNR7;E7EW69;E7EX04;F5GYV2;F5H1F2;F5H1W3;F8WC85;Q9P0V9 AB208875;ABBA01008999;ABBA01009000;ABBA01009001;AC011753;AC140485;AF146760;AF316880;AK021681;AK022682;AK092033;AK292038;AK294427;AK295560;AL049934;AL353938;AMYH01010858;BC020502;BC050345;CH471182;NM_144710;NM_178584;NR_047585 AAF67469;AAH20502;AAH50345;AAY24142;ADQ32727;BAB13873;BAB14176;BAD92112;BAF84727;BAG52471;BAH11763;BAH12107;CAB43213;CAB89249;EAW53858;EAW53859;EAW53860;EAW53861;EAW53862;EAW53863;EAW53864;NP_653311;NP_848699;Q9P0V9 Hs.469615 1709380 SHGC-81707 FLJ11619 OTTHUMP00000207015;OTTHUMP00000207016;OTTHUMP00000207017;OTTHUMP00000207018;OTTHUMP00000207019;sept1-like;septin-10 APPROVED protein-coding ENSG00000186522 14349 15325 611737 REVIEWED 1604543 SEPT12 septin 12 This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p13.3 5036441 5047169 - 4767675 4778348 - 4827615 4838522 - 18443421;18047794;19359518;15915442;14611653;12477932;22275165;17207965;21832049;18029348;22116646;21636737;22479503 124404 K7EIJ5;K7EP57;K7EP92;K7ES86;Q8IYM1 ABBA01026786;AC020663;AI554914;AK058139;AK098718;AMYH01007107;BC024017;BC035619;CH471112;DQ456996;DQ517531;EF620906;NG_030315;NM_001154458;NM_144605 AAH24017;AAH35619;ABE68946;ABF61438;ABR10901;ADQ32285;BAB71681;EAW85264;EAW85265;NP_001147930;NP_653206;Q8IYM1 Hs.126780 FLJ25410;SPGF10 OTTHUMP00000159856;septin-12 APPROVED protein-coding ENSG00000140623 26348 08061 611562;614822 REVIEWED 1349067 SEPT11 septin 11 SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009] 4 4 q21.1 78089919 78178792 + 77870895 77959768 + 1580863;6480464 15485874;18443421;18029348;19234302;17625225;17546647;15635413;15489334;15196925;15140406;14999297;14702039;12665801;12477932;12107410;11790298;16767699;17353931;20379614;20419844;20736409;20978712;22863883;21504731;22939629;22126117;21139048;21890473;21906983;19322201;19531213;17110338;19738201;21963094;23000965;23192594;22505724 55752 D6R9Y6;D6RDP1;D6RDU5;D6RER5;D6RGI3;H0Y961;H0Y9G8;Q9NVA2 ABBA01063370;AC104687;AC111196;AI580485;AI741944;AK001711;AK027279;AK027633;AK124592;AK302700;AL110300;AMYH01014319;BC008083;BC063615;BC064934;BQ021538;BQ221260;CA394082;CH471057;GU727629;NM_018243 AAH08083;AAH63615;AAY40922;ADU87631;BAA91853;BAB55014;BAB55250;BAH13782;CAB53741;EAX05803;EAX05804;EAX05805;NP_060713;Q9NVA2 Hs.128199 1656875;1662916;1664483;1673050;1689803;1690700;1703196;1707378;1735362;1745043;1762683;1764347;1765319;1778076;1852438;1856068;2122309;2130532;2131001;2142051;2142053;2144178;2149594;2151140;2154931;2164497;5024478 D4S1491E;D4S2489E;D4S2515E;D4S3151;D4S988;G33442;G34076;GDB:593240;RH11977;RH36409;RH70008;SGC32423;SHGC-146478;SHGC-147949;SHGC-148811;SHGC-24762;SHGC-24788;SHGC-50163;SHGC-50537;SHGC-50546;SHGC-59798;SHGC-59857;SHGC-67666;SHGC-67808;SHGC-84472;SHGC-8614;WI-20168 OTTHUMP00000219160;OTTHUMP00000219161;OTTHUMP00000219162;OTTHUMP00000219163;OTTHUMP00000219164;septin-11 APPROVED protein-coding ENSG00000138758 25589 08555 612887 VALIDATED 1349682 SEPT7P1 septin 7 pseudogene 1 14 14 14 q13.2 15490736 15492039 - 34696554 34698057 - 35626902 35628205 - 317774 ABBA01061499;AL121594;AMYH01005666;NG_002472 CDC10P APPROVED pseudo 19926 INFERRED 736597 SEPT3 septin 3 This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 26179152 26200449 + 40702877 40724171 + 42372931 42394225 + 1580863;6480464 11230166;11076863;10591208;8889548;16169070;18029348;16381901;15489336;15485489;15461802;15200238;15107017;12477932;11322766;21082023;23163726;21900206;21139048;21890473 55964 B1AHR1;B1AHR2;B7Z686;Q9UH03 AB209152;ABBA01055658;ABBA01055659;ABBA01055660;AF285107;AF285108;AF285109;AI341333;AK290037;AK299919;AL833942;AMYH01012807;BC111779;BM666855;BX465056;CH471095;CR456572;NM_019106;NM_145733;Z99716 AAG00517;AAG00518;AAG00519;AAI11780;BAD92389;BAF82726;BAH13172;CAD38797;CAG30458;CAK54602;CAK54901;CAL37625;EAW60478;EAW60479;EAW60480;EAW60481;EAW60482;NP_061979;NP_663786;Q9UH03 Hs.120483 1342147;1662902;1687323;1700760;2139018 D22S1178;D22S1261;D22S307;D22S410E;RH104005 MGC133218;SEP3;bK250D10.3 OTTHUMP00000028742;OTTHUMP00000199651;OTTHUMP00000199652;neuronal-specific septin 3;neuronal-specific septin-3 APPROVED protein-coding ENSG00000100167 10750 10515 608314 REVIEWED 2902550 SEPT7P3 septin 7 pseudogene 3 7 7 p14.2 35914298 35980039 + 35985900 36014302 + 12690205 646913 AACC02000036;ABBA01056896;AC087072;AMYH01017181;CH236951;NG_008036 EAL23974 1665466;1732758;2171906 D7S1531;D7S2641;D7S2750 pseudo 38038 INFERRED 3516300 SEPT7P4 septin 7 pseudogene 4 7 7 58837794 58844525 + 62701968 62708699 - 100418715 ABBA01006354;ABBA01006355;AC006455;AMYH01017361;NG_022539 pseudo 38039 INFERRED 3516299 SEPT7P5 septin 7 pseudogene 5 7 62956177 62962914 + 100418718 ABBA01000197;AC006457;AMYH01017397;NG_022560 pseudo 38041 INFERRED 3516298 SEPT7P6 septin 7 pseudogene 6 7 7 146622066 146623046 + 152064592 152065572 + 100418720 ABBA01035137;AC104692;AMYH01018149;NG_022577 1847408 SGC34800 pseudo 38042 INFERRED 1342947 SEPT2 septin 2 2 2 q37 241903396 241942115 + 242254723 242293442 + 6480464 20471030;10321247;17685441;10942595;18029348;19234302;19165576;18676680;18656699;18209106;17803907;17637674;17081983;16914550;16807684;16682951;16565220;16189514;15987492;15774761;15635413;15592455;15489334;15485874;15150837;14531065;12544826;12477932;12446710;12388755;12125979;9847074;9811347;9655500;9203580;8697812;8590280;18305167;17353931;12695511;17024187;19170196;19625176;19692168;21082023;16159877;21504731;22939629;22863883;20870893;21788367;21767235;21900206;19531213;22360420;21139048;21890473;21906983;21967827;20881960;22053931;22797925 4735 B5MCX3;B5MD47;C9IY94;C9IZU3;C9J2Q4;C9J938;C9JB25;C9JFT1;C9JG93;C9JQJ4;C9JSE7;C9JT15;C9JZI2;F8WB65;F8WCX3;H7C1T1;H7C2Y0;H7C310;Q15019 ABBA01006044;ABBA01006045;AC005104;AC104841;AF038404;AK294563;AMYH01011631;BC014455;BC033559;BC040676;BC043180;BG721140;BI561073;BX648000;CH471063;D28540;D63878;NM_001008491;NM_001008492;NM_004404;NM_006155 AAB92377;AAH14455;AAH33559;AAY14718;ABM83173;ABM86373;BAA05893;BAA09928;BAG57759;EAW71258;EAW71259;EAW71260;EAW71261;NP_001008491;NP_001008492;NP_004395;NP_006146;Q15019 Hs.721234 1651285;1655466;1672559;1725715;1730143;1739025;1739959;1846578;2129839;2146391;2146393;2176113;7184670 A001W20;D15S949;D2S1880;D2S189E;D2S2576;D2S2704;D2S2850;G19712;G62117;RH17945;RH36196;SHGC-4202 DIFF6;KIAA0158;NEDD5;Pnutl3;hNedd5 NEDD-5;OTTHUMP00000200241;OTTHUMP00000200242;OTTHUMP00000200248;OTTHUMP00000200249;OTTHUMP00000200250;OTTHUMP00000200251;neural precursor cell expressed developmentally down-regulated protein 5;neural precursor cell expressed, developmentally down-regulated 5;septin-2 protein-coding ENSG00000168385 7729 03297 601506 VALIDATED 3003949 SEPT7P7 septin 7 pseudogene 7 9 9 9 q22.33 71877953 71884440 + 100403852 100410379 + 101364031 101370518 + 100130564 ABBA01042912;ABBA01042913;AL353782;AMYH01021563;NG_016426;NG_021463 FLJ36928 pseudo 38043 INFERRED 1349607 SEPT4 septin 4 This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010] 17 17 q22 53952615 53964410 - 56597611 56618179 - 6480464 9889007;17685441;19221096;19165527;18951507;18617022;17764158;17644312;17546647;17383018;17296554;17105210;16464805;16376484;15837787;15489334;15214843;15122323;15116257;15029247;14702039;14559152;12695511;12544826;12477932;12032658;11511094;11167005;11146656;10340703;15254396;16344560;20877624;22503047;17893145;18029348;21185211;21824006;22185822;21898991;21938432;21952823;21869827;19523119;23479728 5414 J3KS26;J3KS85;J3KSZ7;J3QLA8;J3QLR2;J3QRS4;J3QRT6;J3QRU3;O43236 AB002110;AB008753;AB010642;ABBA01041340;AC005666;AF035811;AF073312;AF176379;AK091065;AK094579;AK126631;AK294094;AK295527;AK301914;AK302146;AK308957;AK314528;AK315045;AK315396;AMYH01008513;BC018055;BC018056;BC128255;BC128515;BC142968;CH471109;CR457111;D89278;DA076433;DA343015;DC361494;NG_029570;NM_001198713;NM_001256782;NM_001256822;NM_004574;NM_080415;NM_080416;NR_037155;U88829;U88870 AAB88512;AAC25673;AAD00653;AAD00657;AAG45673;AAH18056;ABM83262;ABM86467;BAB46922;BAB70694;BAB70695;BAG37122;BAG37789;BAG52275;BAG52891;BAG57432;BAG58440;BAG63338;BAG63517;CAG33392;EAW94440;EAW94441;EAW94442;EAW94443;EAW94444;EAW94445;EAW94446;EAW94447;EAW94448;EAW94449;EAW94450;EAW94451;EAW94452;EAW94453;NP_001185642;NP_001243711;NP_001243751;NP_004565;NP_536340;NP_536341;O43236 Hs.287518 1649357;1736624;2163980;2176051 D17S1387E;D17S1470E;SHGC-32067;WI-15444 ARTS;BRADEION;CE5B3;H5;MART;PNUTL2;SEP4;hCDCREL-2;hucep-7 CE5B3 beta;apoptosis-related protein in the TGF-beta signaling pathway;bradeion beta;brain protein H5;cell division control-related protein 2;cerebral protein 7;peanut-like 2;peanut-like protein 2;septin-4;septin-M APPROVED protein-coding ENSG00000108387 9165 04738 603696 REVIEWED 3516296 SEPT7P8 septin 7 pseudogene 8 19 19 51317047 51317638 - 54275949 54276540 - 100418735 ABBA01068200;AC008753;AMYH01009965;NG_021752 pseudo 38044 INFERRED 1350777 SEPT5 septin 5 This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010] 22 22 q11.21 18081987 18092297 + 19701987 19710845 + 6480464;6907045 10321247;9611266;18398426;17625225;16179808;16169070;15489334;15461802;15345747;15231747;15214843;15116257;14702039;14530399;12909369;12477932;12023038;11880646;11078524;9760144;9655500;9600980;9022087;14559152;9385360;16767699;18845538;11771754;18385322;16714300;21832049;22939629;21139048;21900206 5413 B4DJ62;C9JM82;E7EPG2;E7EQM7;E7EX32;F8W9E5;G3XAH0;H7C299;Q99719 ABBA01005406;AC000093;AF006988;AF061154;AK056273;AK295940;AMYH01012479;BC025261;BI601927;BQ448147;CH471176;CR456545;NM_001009939;NM_002688;U74628;U85431;Y11593 AAB93438;AAC25958;AAC39779;AAC39780;AAD00564;AAH25261;BAB71133;BAG58724;CAA72332;CAG30431;CAK54576;CAK54875;EAX03030;EAX03032;NP_001009939;NP_002679;Q99719 Hs.728762;Hs.731401 1686022;2106571;2114032 AB056419;PNUTL1__5740;RH15728 CDCREL;CDCREL-1;CDCREL1;H5;HCDCREL-1;PNUTL1 OTTHUMP00000197271;OTTHUMP00000197272;OTTHUMP00000197273;OTTHUMP00000197274;OTTHUMP00000197275;OTTHUMP00000197276;OTTHUMP00000197396;OTTHUMP00000197410;cell division control related protein 1;cell division control-related protein 1;peanut-like 1;peanut-like protein 1;platelet glycoprotein Ib beta chain;septin-5 APPROVED protein-coding ENSG00000184702 9164 04100 602724 REVIEWED 2298733 SEPT7P2 septin 7 pseudogene 2 Septins, such as SEPT13, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM, Jul 2008] 7 7 7 p12.3 45862299 45907541 - 45734248 45772907 - 45763386 45808617 - 16344560;15915442;14702039;12690205;12477932;9847074 641977 AACC02000109;ABBA01058250;ABBA01058251;AC091439;AC096582;AK056032;AL832059;AMYH01017224;BC092503;CH236960;DA100871;NR_024271 Hs.723477 1653706;1782366;5022200;5106565 GDB:4585075;L18426;RH47788;SHGC-149993 DKFZp313J1114;FLJ14186;FLJ31470;SEPT13;SEPT7B APPROVED pseudo ENSG00000214765 32339 611563 PROVISIONAL 1344473 SEPW1P selenoprotein W, 1 pseudogene 1 1 1 p35.2 29823946 29825013 - 31339786 31341306 - 31567418 31568485 - 12818432 23679 ABBA01023483;AF083062;AL356320;AMYH01000454;NG_002791 pseudo 10753 INFERRED 1316585 SEPT6 septin 6 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] X X q24 118633715 118711361 - 118749687 118827333 - 634004;1580863;6480464 10744683 11809673;18047794;18029348;17803907;17637674;17229681;16914550;16843108;16189514;15772651;15489334;14531065;12665801;12544826;12477932;12446710;12388755;12096348;11064363;8590280;11584266;17207965;17353931;21082023;21788367;21110914;21900206;21906983;19531213;22505724 23157 B1AMS2;B4E049;F5H1J5;Q14141;Q541S4;Q548C9 ABBA01036642;ABBA01036643;ABBA01036644;ABBA01036645;ABBA01036646;ABBA01036647;ABBA01036648;ABBA01036649;ABBA01036650;ABBA01036651;ABBA01036652;ABBA01036653;AC004913;AC005052;AF397023;AF403058;AF403059;AF403060;AF403061;AF403062;AK026589;AK290977;AK298487;AK299273;AK303116;AK303224;AL355348;AL833677;AMYH01022884;AMYH01022885;AY005981;AY034177;AY679521;BC009291;BC011922;BC036240;BC069231;CH471161;D50918;DC336432;NG_012565;NM_015129;NM_145799;NM_145800;NM_145802 AAF97496;AAH09291;AAH11922;AAH36240;AAH69231;AAK61492;AAK98547;AAK98548;AAK98549;AAK98550;AAK98551;AAN76547;AAT80339;ADQ32407;BAA09477;BAF83666;BAG60696;BAG61293;BAG64222;BAG64311;EAW89851;EAW89852;EAW89853;EAW89854;EAW89855;EAW89856;EAW89857;EAW89858;NP_055944;NP_665798;NP_665799;NP_665801;Q14141 Hs.496666 1651377;1655154;1666509;1681873;1697276;2121942 DXS7626;RH102135;RH12106;RH18205;RH25351;SHGC-37555 KIAA0128;MGC16619;MGC20339;RP5-876A24.2;SEP2;SEPT2 OTTHUMP00000023916;OTTHUMP00000023917;OTTHUMP00000023918;OTTHUMP00000023919;OTTHUMP00000023920;OTTHUMP00000023921;septin 2;septin-6 APPROVED protein-coding ENSG00000125354 15848 06716 300683 REVIEWED 1353969 SEPT7P9 septin 7 pseudogene 9 10 10 10 p11.1 135891530 135891723 - 38711903 38731627 - 38671997 38691780 - 14702039;12477932 285961 ABBA01033278;ABBA01033279;ABBA01033280;ABBA01033281;AL133216;AMYH01002262;BC042387;BC048143;BC171738;NR_027269 Hs.406568 CDC10L;SEPT7L;bA291L22.2 APPROVED pseudo 30810 VALIDATED 1603821 SERBP1P1 SERPINE1 mRNA binding protein 1 pseudogene 1 X X X q13.1 68356142 68359199 + 67919841 67923099 + 68003216 68006273 + 389866 ABBA01067388;AL353587;AMYH01022520;NG_005103 1736054 D1S2010E SERBP1P APPROVED pseudo 32247 INFERRED 2794052 SERBP1P2 SERPINE1 mRNA binding protein 1 pseudogene 2 Y Y p11.2 4728951 4731070 - 4669051 4670970 - 12815422;9847074 359996 ABBA01069873;AC019060;NG_002917 pseudo 23967 INFERRED 7175252 SERBP1P3 SERPINE1 mRNA binding protein 1 pseudogene 3 3 p21.1 53092184 53099107 - 553148 ABBA01024493;AC096887;AMYH01013190;NG_005109 1337876;1739205 D3S2321;D3S3275 pseudo 44630 INFERRED 7175944 SERBP1P4 SERPINE1 mRNA binding protein 1 pseudogene 4 X q21.31 90815437 90816597 - 100132591 AL627250;AMYH01022682;NG_022620 pseudo 44631 INFERRED 7175181 SERBP1P5 SERPINE1 mRNA binding protein 1 pseudogene 5 4 q21.21 79101380 79103299 - 9847074 442112 ABBA01063377;AC093897;AMYH01014325;NG_005107;NG_015812 1739205 D3S3275 pseudo 44632 INFERRED 7175946 SERBP1P6 SERPINE1 mRNA binding protein 1 pseudogene 6 5 42465499 42468968 - 100420450 ABBA01024240;AC093225;AMYH01015052;NG_024590 pseudo 44635 INFERRED 1604654 SEPT7 septin 7 This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011] 7 7 p14.2 35807152 35911442 + 35840596 35946715 + 6480464 8037772;11584266;15485874;17685441;18543212;18460473;17803907;17637674;17081983;16914550;16344560;15635413;15592455;15489334;15342556;14531065;12477932;12388755;10931866;9655500;8125298;17353931;19322201;21767235;21824007;22064074;20385374;19426592;19916744;20379614;18029348;20035367;20352323;16159877;21082023;21509594;19221096;21616478;19779646;17500595;22863883;22939629;21788367;19531213;21139048;21906983;22623428;22956766;23000965;23383034;23442799;22505724;22797925 989 A8K3D0;B4DNE4;E7EPK1;E7ES33;F5GZE5;G3V1Q4;H0Y3Y4;H0YFF6;Q16181;Q5JXL7 AA853468;AACC02000036;AB073389;AB209677;ABBA01056888;ABBA01056889;ABBA01056890;ABBA01056891;ABBA01056892;AC007551;AC087072;AI651908;AK223225;AK223241;AK290545;AK297883;AK298453;AK300601;AL050392;AMYH01017181;BC022442;BC025987;BC067264;BC093640;BC093642;BC107718;BI669760;BP280069;BQ229116;BQ232357;BX435313;BX571755;BX648365;CH236951;CH471073;DA352853;DC414394;DQ232879;NM_001011553;NM_001242956;NM_001788;S72008 AAB31337;AAH25987;AAH67264;AAH93640;AAH93642;AAI07719;ABB17294;ADR82997;BAD92914;BAE45719;BAF83234;BAG60206;BAG60668;BAG62298;CAE11880;CAI46224;EAW94059;EAW94060;EAW94061;EAW94062;NP_001011553;NP_001229885;NP_001779;Q16181 Hs.191346 1655721;1664144;1665466;1672532;1697994;1795526;2116172;5014757;5107179 CDC10_514;D7S2641;D7S3201;G10723;RH102526;RH11850;STS-H79300;STS-S72008;WI-9389 CDC10;CDC3;DKFZp686M10191;Nbla02942;SEPT7A CDC10 (cell division cycle 10, S. cerevisiae, homolog);CDC10 cell division cycle 10 homolog;CDC10 protein homolog;OTTHUMP00000207203;OTTHUMP00000207204;septin-7 APPROVED protein-coding 1717 04398 603151 REVIEWED 6769422 SERF1AP1 small EDRK-rich factor 1A (telomeric) pseudogene 1 4 q28.3 138222158 138222341 - 100131921 ABBA01044900;AC104797;AMYH01014557;NG_030215 pseudo 44061 INFERRED 737006 SEPW1 selenoprotein W, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein shows highest expression in skeletal muscle and heart, and may be involved in oxidation-reduction reactions. A retroprocessed pseudogene, SEPW1P, has been identified and mapped to chromosome 1p35-34. [provided by RefSeq, Jul 2008] 19 19 q13.3 52973654 52979755 + 48281842 48287939 + 6480464 15823556;15670848;15489334;14702039;12818432;12775843;12477932;11215511;10708517;9256076;7896009;19387567;19690192;21866568;21875573;17503775;22730327 6415 F8WB74;M0QYX1;P63302 ABBA01041056;AC008745;AF015283;AF247455;AK026717;AK091604;AMYH01009889;BC000581;BC032546;BC039597;BC047893;BF032577;BF973456;BU185196;CH471126;NM_003009;U67171 AAB69859;AAC51665;AAH00581;AAH32546;AAH39597;AAH47893;AAL00898;EAW57511;EAW57512;EAW57513;NP_003000;P63302 Hs.631549 2114323;2175129;5014051;5015619;5016478;5017227;5020740;5020885;5020946;5022200;5022578;5024272;5024413;5024756;5037552;5118444 D11S3114;D11S3316;D1S1423;D2S1254;D8S2278;D8S2279;G38154;GDB:434012;L17791;L17809;L17877;L17971;L18426;RH41798;RH80030;SHGC-16175 selW selenoprotein W APPROVED protein-coding ENSG00000178980 10752 08377 603235 REVIEWED 1318222 SEPT8 septin 8 This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. [provided by RefSeq, Jun 2012] 5 5 q31 132114408 132141460 - 132086509 132113561 - 1580863;6480464 17685441;17625225;17353931;16767699;16344560;15489334;15214843;15116257;12909369;12477932;12475938;12098780;12023038;10704283;9149945;9039502;8889548;20544379;20379614;20485362;16159877;21900206;21139048;19531213;18029348;22505724 23176 A6NFQ9;A6NMH6;C9J4G8;C9JV02;F6W7K9;F8W8I8;H7C604;Q92599 ABBA01068801;ABBA01068802;AC004775;AF179995;AF440761;AF440762;AF440763;AK057797;AMYH01015616;BC001329;BC140759;BC171779;BU739074;CH471062;D86957;DA261871;NM_001098811;NM_001098812;NM_001098813;NM_015146 AAG09407;AAH01329;AAI40760;AAI60179;AAI71779;AAO13878;AAO13879;AAO13880;BAA13193;EAW62315;EAW62316;EAW62317;NP_001092281;NP_001092282;NP_001092283;NP_055961;Q92599 Hs.522057 1698462;1785372;1798712;1798762;1798992;1799490;1799902;1799904;1800902;1801018;1801360;1801536;1801626;1802114;1802716;1802998;1804682;1805778;1806686;1807076;1807542;1810676;1816188;1817726;1818926;1821514;1822018;1824306;1824308;1826238;1826574;1833856;1838672;1839512;1854100;2001240;2001242;2001244;2001246;2001248;2001250;2001252;2001254;2001256;2001258;2001260;2001262;2001264;2001266;2001268;2001270;2001272;2001274;2001276;2001278;2001280;2001282;2001284;2001286;2001288;2001290;2001292;2001294;2001296;2001298;2001300;2001302;2001304;2001306;2001308;2001310;2001312;2001314;2001316;2001318;2001320;2001322;2001324;2001326;2001328;2001330;2001332;2001334;2001336;2001338;2001340;2001342;2001344;2001346;2001348;2001350;2001352;2001354;2001356;2001358;2001360;2001362;2001364;2001366;2001368;2001370;2001372;2001374;2001376;2001378;2001380;2001382;2001384;2001386;2001388;2001390;2001392;2001394;2001396;2001398;2001400;2001402;2001404;2001406;2001408;2001410;2001412;2001414;2001416;2001418;2001420;2001422;2001424;2001426;2001428;2001430;2001432;2001434;2001436;2001438;2001440;2001442;2001444;2001446;2001448;2001450;2001452;2001454;2001456;2001458;2001460;2001462;2001464;2001466;2001468;2001470;2001472;2001474;2001476;2001478;2001480;2001482;2001484;2001486;2001488;2001490;2001492;2096430;2096432;2096434;2096436;2096438;2096440;2096442;2096444;2096446;2096448;2096450;2096452;2096454;2096456;2096458;2096460;2096462;2133470;5091772 ECD00196;ECD00221;ECD00339;ECD00596;ECD00805;ECD00806;ECD01316;ECD01375;ECD01552;ECD01646;ECD01691;ECD01939;ECD02245;ECD02390;ECD03273;ECD03840;ECD04300;ECD04503;ECD04743;ECD06332;ECD09134;ECD09916;ECD10527;ECD11841;ECD12095;ECD13251;ECD13252;ECD14231;ECD14401;ECD18074;ECD20510;ECD20938;REN71532;REN71533;REN71534;REN71535;REN71536;REN71537;REN71538;REN71539;REN71540;REN71541;REN71542;REN71543;REN71544;REN71545;REN71546;REN71547;REN71548;REN71549;REN71550;REN71551;REN71552;REN71553;REN71554;REN71555;REN71556;REN71557;REN71558;REN71559;REN71560;REN71561;REN71562;REN71563;REN71564;REN71565;REN71566;REN71567;REN71568;REN71569;REN71570;REN71571;REN71572;REN71573;REN71574;REN71575;REN71576;REN71577;REN71578;REN71579;REN71580;REN71581;REN71582;REN71583;REN71584;REN71585;REN71586;REN71587;REN71588;REN71589;REN71590;REN71591;REN71592;REN71593;REN71594;REN71595;REN71596;REN71597;REN71598;REN71599;REN71600;REN71601;REN71602;REN71603;REN71604;REN71605;REN71606;REN71607;REN71608;REN71609;REN71610;REN71611;REN71612;REN71613;REN71614;REN71615;REN71616;REN71617;REN71618;REN71619;REN71620;REN71621;REN71622;REN71623;REN71624;REN71625;REN71626;REN71627;REN71628;REN71629;REN71630;REN71631;REN71632;REN71633;REN71634;REN71635;REN71636;REN71637;REN71638;REN71639;REN71640;REN71641;REN71642;REN71643;REN71644;REN71645;REN71646;REN71647;REN71648;REN71649;REN71650;REN71651;REN71652;REN71653;REN71654;REN71655;REN71656;REN71657;REN71658;RH102780;RH25415;SHGC-132851;SHGC-53463;WI-14977;stSG601497;stSG601499;stSG601500;stSG601501;stSG601502;stSG601503;stSG601504;stSG601505;stSG601506;stSG601507;stSG601508;stSG601509;stSG601510;stSG601511;stSG601512;stSG601513;stSG601516 KIAA0202;SEP2 OTTHUMP00000066074;OTTHUMP00000066075;OTTHUMP00000066076;OTTHUMP00000066077;OTTHUMP00000066079;OTTHUMP00000066080;OTTHUMP00000211755;septin-8 APPROVED protein-coding ENSG00000164402 16511 608418 VALIDATED 1349770 SERAC1 serine active site containing 1 The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012] 6 6 6 q25.3 159179384 159237341 - 158450535 158509257 - 158530536 158589312 - 6480464 16344560;15489334;14702039;14574404;12477932;8889549;21832049;20379614;16527507;19282972;21423545;22683713 84947 Q5JVM6;Q96JX3 AA128978;ABBA01021100;AK023656;AK027823;AK125878;AL135907;AL590703;AMYH01016779;BC001705;BC028594;BC048335;BC060795;BX648104;CH471051;DA232092;DB046171;NG_032889;NM_032861;NR_073096 AAH01705;AAH28594;BAB55393;EAW47664;NP_116250;Q96JX3 Hs.154706 1340487;1690462;2144137;2154979;5014051;5015619;5022578;5037552;5109281;5109655 AFM309yb9;D11S3114;D1S1423;D1S1425;D6S1120E;D6S363;D8S2278;D8S2279;RH76368;RH77847 FLJ14917;FLJ30544;MEGDEL OTTHUMP00000017498;OTTHUMP00000017499;protein SERAC1;serine active site-containing protein 1 APPROVED protein-coding ENSG00000122335 21061 10223 614725;614739 REVIEWED 1350108 SERF1A small EDRK-rich factor 1A (telomeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008] 5 5 5 q13 66254473 66261935 - 70232244 70250112 + 70196490 70214357 + 1580863;6480464 19154529;15489334;12477932;11181995;10486205;9731538;9503025;20723760;17207965;22854022;21832049;21821450;18624398 8293 D6RC42;D6RC90;D6RCL9;E5RHJ0;E5RIQ9;E5RIX6;O75920 ABBA01159831;AC139494;AC139834;AF073518;AF073519;AF073520;AMYH01015400;BC021174;BC035932;BC093880;BC093882;BX107837;CH878701;DB444407;NM_021967;NM_022968 AAC63517;AAC63518;AAH21174;AAH35932;AAH93880;AAH93882;ADQ32011;EAW50867;NP_068802;NP_075257;O75920 Hs.726820 1698942;1743521;1743527;2219686 D5F149S1;D5F154S1;RH103040;SERF1B__5381 4F5;FAM2A;H4F5;SERF1;SERF1B;SMAM1 OTTHUMP00000221991;OTTHUMP00000221992;OTTHUMP00000222105;SMA modifier 1;protein 4F5;small EDRK-rich factor 1;spinal muscular atrophy-related gene H4F5 APPROVED protein-coding ENSG00000172058 10755 04308 603011 REVIEWED 1349459 SEPT9 septin 9 This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009] 17 17 q25 72827197 73008273 + 75277492 75496678 + 1599349;6480464;7240710 16186812 10339604;15485874;16007136;19451530;19406918;19251694;19204161;19139049;19071215;19018278;18642054;18525421;18492087;18075300;17546647;17081983;16964243;16424018;16344560;16161048;15782116;15489334;15302935;14702039;12626509;12477932;12388755;12095151;11593400;10987277;10673329;10673328;10485469;10231032;9439655;22278362;22837378;16169070;17922164;19851296;20019224;20029986;20113838;20198315;20098747;20407014;20562859;20966902;20682395;20140221;19939853;16159877;20301569;21059847;21832049;22939629;21267688;21737677;19531213;21767235;22123865;21831286;19953087;21139048;21693764;21890473;21906983;21963094;18029348;23049919;23118862;17110338;19738201;22505724;22956766;23000965;22981636;22337587;22632162;22797925 10801 K7EIE4;K7EIR4;K7EJ51;K7EJL9;K7EJV0;K7EJZ2;K7EK18;K7EKF9;K7EKN4;K7EL40;K7ELJ9;K7EMW8;K7EN52;K7ENL0;K7ENQ5;K7EPY1;K7EQ08;K7EQD7;K7ER14;K7ER34;K7ER52;K7ERG1;Q96QF4 AA523782;AB023208;ABBA01002960;ABBA01002961;ABBA01028696;ABBA01028697;ABBA01028698;ABBA01028699;ABBA01028700;ABBA01028701;ABBA01028702;ABBA01028703;ABBA01028704;ABBA01028705;ABBA01028706;ABBA01028707;AC068594;AC111170;AC111182;AF123052;AF142408;AF142569;AF189712;AF189713;AJ312319;AJ312320;AJ312321;AJ312322;AJ312323;AK022493;AK056495;AK290368;AK299828;AK300268;AK300270;AK303449;AK304143;AK316473;AL080131;AMYH01008656;BC018877;BC021192;BC054004;BC064642;BC114550;BQ279153;BT007215;CH471099;DA234895;DB007851;DB148645;DC307336;NG_011683;NM_001113491;NM_001113492;NM_001113493;NM_001113494;NM_001113495;NM_001113496;NM_006640 AAD39749;AAF23373;AAF23374;AAG27919;AAG27922;AAH21192;AAH54004;AAI14551;AAP35879;ABM84718;ABM92240;BAA76835;BAB14057;BAF83057;BAG51732;BAG62029;BAG62031;BAG64494;BAG65036;BAH13140;BAH14844;CAB45728;CAC42221;CAC42222;CAC42223;CAC42224;CAC42225;EAW89461;EAW89462;EAW89463;EAW89464;EAW89465;EAW89466;EAW89467;EAW89468;NP_001106963;NP_001106964;NP_001106965;NP_001106966;NP_001106967;NP_001106968;NP_006631;Q9UHD8 Hs.440932 1336707;1338539;1341087;1341390;1341588;1678091;1687820;1688460;1694718;1750667;1783468;1847218;1852008 AFM267xh1;D17S1603;D17S705;D17S802;D17S937;D17S939;RH121931;RH35918;RH45518;RH98696;RH98887;SHGC-111980;SHGC-112100 AF17q25;FLJ75490;KIAA0991;MSF;MSF1;NAPB;PNUTL4;SINT1;SeptD1 MLL septin-like fusion protein MSF-A;Ov/Br septin;ovarian/breast septin;septin D1;septin-9 APPROVED protein-coding ENSG00000184640 7323 10360 162100;604061 REVIEWED 1353994 SERF1B small EDRK-rich factor 1B (centromeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008] 5 5 q13.2 69356852 69374696 + 69321078 69338935 + 6480464 15489334;9731538;12766061;8889548;12477932;10486205 728492 D6RC42;D6RC90;D6RCL9;O75920 ABBA01143181;AC004999;AC139277;AMYH01015399;BC101970;BC103687;BC104738;BC143255;BC143260;BC171749;BM686659;CD679521;DB454907;NM_001178087;NM_022978 AAI01971;AAI03688;AAI04739;AAI43256;AAI43261;AAI71749;NP_001171558;NP_075267;O75920 Hs.559428 1698942;1743521;1743527;2219686 D5F149S1;D5F154S1;RH103040;SERF1B__5381 FAM2B;H4F5C;MGC125278;MGC125279;MGC125280;SERF1A OTTHUMP00000221945;OTTHUMP00000221946;OTTHUMP00000221947;SMA modifier 1;h4F5;protein 4F5;small EDRK-rich factor 1 APPROVED protein-coding ENSG00000205572 10756 REVIEWED 1606807 SERBP1 SERPINE1 mRNA binding protein 1 1 1 p31 67646081 67668711 - 67873493 67896123 - 6480464 11001948;12505151;18440126;17698176;17081983;16964243;16963292;16879614;16679534;16303743;15489334;14702039;12477932;12027469;11972486;11230166;10810093;9110174;8619474;8125298;16169070;21145461;22442049;21832049;22939629;17207965;17353931;16455055;22863883;22990118;16196087;18029348;19135240;15604093;18457437;18781797;20360068;21900206;21987572;19471022;21139048;21693764;21890473;21906983;16009940;17361185;18632687;19322201;22412388;17620599;22379092;22586326;18654987;15492215;21963094;22113938;22963397;23000965;23236990;23398456;23455922;23455924;23463506;19836239;19380743;22053931;22505724 26135 Q5VU21;Q63HR1;Q9Y367 ABBA01074517;ABBA01074518;AF131807;AF151813;AK074970;AK095960;AK130606;AK222955;AK223138;AK312256;AL080119;AL358512;AL590559;AMYH01000692;AY032853;BC002488;BC003049;BC008045;BC017449;BC019273;BC020555;BC026916;BC036414;BI464676;BX647139;CH471059;CR457383;NM_001018067;NM_001018068;NM_001018069;NM_015640 AAD34050;AAH02488;AAH03049;AAH08045;AAH17449;AAH19273;AAH20555;AAH26916;AAK51130;ACE86556;ACE87060;ACE87133;ACE87238;ACE87741;ADQ32172;BAC11324;BAD96675;BAD96858;BAG35188;CAB45718;CAG33664;CAH56188;EAX06489;EAX06490;EAX06491;EAX06492;EAX06493;EAX06494;EAX06495;EAX06496;EAX06497;NP_001018077;NP_001018078;NP_001018079;NP_056455;Q8NC51 Hs.530412 1644532;1663049;1668962;1677672;1710150;1736054;1739205;2115047;2125975;2152333;2182391;5020798;5021203;5111945;5113906;5117224;5124922 D1S2010E;D1S2367;D3S3275;G34821;G43269;GDB:451849;HUM0C12C01;RH47127;RH47128;RH64710;RH65037;RH65162;RH70271;SHGC-37015;SHGC-74956;SHGC-82332;STS-H42500 CGI-55;CHD3IP;DKFZp564M2423;FLJ90489;HABP4L;PAI-RBP1;PAIRBP1 OTTHUMP00000010977;OTTHUMP00000010978;OTTHUMP00000037681;OTTHUMP00000037682;PAI-1 mRNA binding protein;PAI1 RNA-binding protein 1;SERPINE1 mRNA-binding protein 1;chromodomain helicase DNA binding protein 3 interacting protein;plasminogen activator inhibitor 1 RNA binding protein;plasminogen activator inhibitor 1 RNA-binding protein protein-coding ENSG00000142864 17860 607378 VALIDATED 1603222 SERGEF secretion regulating guanine nucleotide exchange factor 11 11 11 p14.3 17942106 18166667 - 17766171 17991213 - 17809595 18034637 - 6480464 10571079;12459492;15489334;14980502;12477932;10737800;8889548;18029348;23455924 26297 B4DFC0;E9PIU4;E9PIV0;E9PL52;E9PMV6;E9PR50;E9PS70;G3V1B4;H0YD20;H0YDC8;H0YE53;H0YEL8;H0YEV5;Q9UGK8 ABBA01061060;ABBA01061061;AC055860;AC124058;AC124078;AF086056;AJ243950;AJ243951;AK292286;AK294022;AMYH01003417;BC000707;BC065375;BE075522;BM709308;BU932034;CB051322;CH471064;NM_012139;NR_104040;NR_104041 AAH65375;BAF84975;BAG57381;CAB60832;CAB60833;EAW68423;EAW68424;NP_036271;Q9UGK8 Hs.32470 1338822;1656746;1659644;1698102;1711168;1714771;2109231;2149377;2151954;7185523;7185896;7185897 D11S1310;D11S2304E;DELGEF_9483;G31087;RH102583;RH120051;RH46127;SHGC-85327;STS-AA002069 DELGEF;Gnefr OTTHUMP00000232777;OTTHUMP00000232778;OTTHUMP00000232779;OTTHUMP00000232780;OTTHUMP00000232781;deafness locus associated putative guanine nucleotide exchange factor;deafness locus-associated putative guanine nucleotide exchange factor;guanine nucleotide exchange factor-related protein;secretion-regulating guanine nucleotide exchange factor protein-coding ENSG00000129158 17499 06926 606051 VALIDATED 1344606 SERF2 small EDRK-rich factor 2 15 15 15 q15.3 20973939 20977749 + 41871769 41875579 + 44069294 44088287 + 6480464 16916647;16344560;15489334;14702039;12477932;11042152;9731538;9700202;8889548;16169070;16189514;17568003;20723760;16713569;15342556;16927404 10169 B8ZZY7;B9A031;C9JQZ0;F8WBN3;F8WBV6;P84101 ABBA01039223;AC018512;AF073298;AF320073;AK000479;AK094846;AK307547;AL049976;AMYH01006607;AV713454;BC008214;BC009869;BC015491;BC022326;BC038893;BI260545;BM970646;BP317864;BQ061048;DA051124;DA302996;DB060650;EF212272;NM_001018108;NM_001199875;NM_001199876;NM_001199877;NM_001199878;NR_037672 AAC63516;AAH15491;AAH22326;AAK07636;ABM82421;ABM85612;NP_001018118;NP_001186804;NP_001186805;NP_001186806;NP_001186807;P84101 Hs.424126;Hs.604985;Hs.732549 1736810;1805516;1805820;1805904;1806218;1806380;1933598;1933690;1933692;1933694;1933696;1933698;1933700;1933702;1933704;1933706;1933708;1933710;1933712;1933714;1933716;1933718;1933720;1933722;1933724;1933726;1933728;1933730;1933732;1933734;1933736;1933738;2154049;2173819;2186551;2209086;2209088;2209090;2209092 D15S797;ECD03706;ECD03861;ECD03905;ECD04064;ECD04146;REN37632;REN37678;REN37679;REN37680;REN37681;REN37682;REN37683;REN37684;REN37685;REN37686;REN37687;REN37688;REN37689;REN37690;REN37691;REN37692;REN37693;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;REN37700;REN37701;REN37702;RH41787;RH47782;WI-18240;stSG627949;stSG627950;stSG627951;stSG627952 4F5REL;FAM2C;FLJ20431;FLJ37527;FLJ38557;H4F5rel;HsT17089;MGC48826 OTTHUMP00000066299;OTTHUMP00000066300;OTTHUMP00000161393;OTTHUMP00000200122;OTTHUMP00000200123;OTTHUMP00000200124;OTTHUMP00000204316;gastric cancer-related protein VRG107;protein 4F5-related;small EDRK-rich factor 2 protein-coding 10757 05447 605054 VALIDATED 1602055 SERHL2 serine hydrolase-like 2 22 22 22 q13 26860413 26880873 + 41279869 41300332 + 42949925 42970388 + 6480464 15489334;15461802;12529303;12477932;11352564;11181995;10591208;20877624;21906983 253190 A6ND93;B4DGG4;E9PMQ2;F2Z3M3;Q9H4I8 ABBA01017933;ABBA01017934;AK294584;AK295223;AL450314;AL589866;AL590118;AL590120;AMYH01012821;BC119650;BC119651;BC127635;BC127636;CH471138;CR456455;CS566152;NM_014509;Z93241 AAI19651;AAI19652;AAI27636;AAI27637;BAG57775;BAG58216;CAC16804;CAC34477;CAC34871;CAC34873;CAG30341;CAK54436;CAK54735;CAN37627;EAW73255;EAW73256;EAW73257;EAW73258;EAW73259;NP_055324;Q9H4I8 Hs.728878 1648115;1667147;2138816;2152048;2158413;2219688;5037552 A008L30;D8S2279;SERHL__5382;STS-T78900;WI-13406;WI-14068;WI-14105 MGC149508;MGC157667;MGC157668;dJ222E13.1 OTTHUMP00000198668;OTTHUMP00000198669;OTTHUMP00000232531;kraken-like;serine hydrolase-like protein 2 protein-coding ENSG00000183569 29446 15908 PROVISIONAL 1346851 SERHL serine hydrolase-like 22 22 22 q13.2-q13.31 26702859 26705553 + 41226540 41238510 + 42896585 42908566 + 1580863;6480464 16344560;15489334;15461802;14702039;12529303;12477932;10591208 94009 Q8N1U3;Q9NQF3 ABBA01055680;ABBA01055681;ABBA01055682;AK094872;AL022316;AL365513;AMYH01012816;AMYH01012817;BC093888;CH471095;DA273263;NR_027786 AAH93888;BAC04444;CAB97209;EAW60507;Q9NQF3 Hs.744111 1648115;1667147;2111420;2138816;2152048;2158413;2219688 A008L30;D22S1143;SERHL__5382;STS-T78900;WI-13406;WI-14068;WI-14105 BK126B4.1;BK126B4.2;HS126B42;dJ222E13.1 pseudo ENSG00000172250 14408 10465 607979 VALIDATED 1349070 SERINC1 serine incorporator 1 6 6 6 q22.31 123508786 123537260 - 122806192 122834651 - 122764493 122792952 - 1580863;6480464 12477932;18978678;17081983;15489334;14574404;12975309;10931946;10637174;10574462;22939629;17207965;21890473;21906983;22053931 57515 Q9NRX5 AB033079;ABBA01025984;AF087902;AF092436;AF164794;AK075339;AL137261;AMYH01016636;AY358429;BC014412;BC028607;BC033029;CH471051;NM_020755;Z99129 AAF80758;AAH28607;AAH33029;AAP97200;AAP97211;AAQ88795;ADQ32715;ADZ15376;BAA86567;CAB70662;EAW48172;EAW48173;NP_065806;Q9NRX5 Hs.146668 1652351;1652353;1672145;2152637;2162056;2170145;5016781 A005A16;D6S1230E;D6S1418;G20260;IB477;SHGC-67307;WI-18000 KIAA1253;TDE1L;TDE2;TMS-2;TMS2 OTTHUMP00000017112;serine incorporator 1;tumor differentially expressed 1 protein-like;tumor differentially expressed 2;tumor differentially expressed protein 1-like;tumor differentially expressed protein 2 protein-coding ENSG00000111897 13464 15480 614548 PROVISIONAL 1322836 SERINC2 serine incorporator 2 1 1 1 p35.1 30143213 30168046 + 31658550 31680112 + 31882412 31907527 + 6480464 15815621;15489334;14702039;12975309;12949800;12477932;9872452;23455491 347735 Q96IM8;Q96SA4 ABBA01023463;ABBA01023464;ABBA01023465;AC114494;AF116607;AF352325;AK093784;AK127659;AK296118;AK298512;AK308031;AK309409;AK316357;AMYH01000456;AMYH01000457;AMYH01000458;AY094595;AY358560;BC007375;BC017085;BC063006;BC084580;BC126283;BC126285;BM924335;CH471059;DC363849;NM_001199037;NM_001199038;NM_001199039;NM_018565;NM_178865 AAF71032;AAH07375;AAH17085;AAH84580;AAI26284;AAI26286;AAK83284;AAM22522;AAQ88924;ACT64421;ACT64422;ADR83169;BAG58867;BAH12803;BAH14728;EAX07611;EAX07612;EAX07613;EAX07614;EAX07615;EAX07616;NP_001185966;NP_001185967;NP_001185968;NP_061035;NP_849196;Q96SA4 Hs.270655 1683515;2139380;2166243;2191533;5093320;5112033 A009L24;D1S1701;G32650;G44725;MARC_26102-26103:1032794289:1;RH80390 FKSG84;MGC90340;PRO0899;TDE2;TDE2L OTTHUMP00000003896;OTTHUMP00000003897;serine incorporator 2;tumor differentially expressed 2-like;tumor differentially expressed protein 2;tumor differentially expressed protein 2-like protein-coding ENSG00000168528 23231 15481 614549 VALIDATED 1606056 SERINC4 serine incorporator 4 15 15 15 q15.3 20976627 20981717 - 41874457 41879547 - 44086372 44092295 - 6480464 16120614;14702039;12477932 619189 A6NH21;A6NM42;F8WBD8;H7C188;H7C303 ABBA01039223;AC018512;AK097682;AMYH01006607;BC136669;BX647438;CH471082;DQ103711;NM_001258031;NM_001258032 A6NH21;AAI36670;AAZ80298;EAW77244;EAW77245;EAW77246;NP_001244960;NP_001244961 Hs.604985 1711310;1736810;1805516;1805632;1805984;1806558;1815924;1817030;1833784;1836164;1933722;1933724;1933726;1933728;1933730;1933732;1933734;1933736;1933738;1933740;1933742;1933744;1933746;1933748;1933750;1933752;1933754;1933756;1933758;1933760;1933762;1933764;1933766;1933768;1933770;1933772;1933774;1933776;1933778;1933780;1933782;1933784;1933786;2154049;2173819;2175857;2186551;2209094;2209096;2209098;2209100 D15S797;ECD03706;ECD03766;ECD03945;ECD04236;ECD09002;ECD09564;ECD18037;ECD19243;REN37694;REN37695;REN37696;REN37697;REN37698;REN37699;REN37700;REN37701;REN37702;REN37703;REN37704;REN37705;REN37706;REN37707;REN37708;REN37709;REN37710;REN37711;REN37712;REN37713;REN37714;REN37715;REN37716;REN37717;REN37718;REN37719;REN37720;REN37721;REN37722;REN37723;REN37724;REN37725;REN37726;RH41787;RH47782;SHGC-33350;SHGC-84907;WI-18240;stSG627953;stSG627955;stSG627956;stSG627957 FLJ40363 OTTHUMP00000066510;serine incorporator 4 protein-coding ENSG00000184716 32237 614550 VALIDATED 1604715 SERINC5 serine incorporator 5 5 5 5 q14.1 75308393 75453225 - 79443230 79587626 - 79407050 79551898 - 6480464 17672918;15637075;12688535;12477932;20379614 256987 D6RHG7;Q86VE9 ABBA01062030;ABBA01062031;AC010260;AC012636;AF498273;AK026295;AK297467;AMYH01015443;AMYH01015444;AMYH01015445;BC101280;BC101281;BC101282;BC101283;CH471084;NM_001174071;NM_001174072;NM_178276 AAI01281;AAI01282;AAI01284;AAP06800;BAG59889;EAW95843;EAW95844;EAW95845;NP_001167542;NP_001167543;NP_840060;Q86VE9 Hs.288232 1655881;1659154;2117728;2121508;2127805;2142232;2142234;2144643;2145422;2178911;5017423;5022450;5121802 A006W30;D10S275;D5S2485;D5S2675;L28256;NIB1185;RH16321;RH68505;RH68715;RH78501;SHGC-33799;SHGC-35055;STS-T96036 C5orf12;TPO1 OTTHUMP00000222342;OTTHUMP00000222451;OTTHUMP00000222452;OTTHUMP00000222579;serine incorporator 5 protein-coding ENSG00000164300 18825 12828 614551 VALIDATED 1318130 SERINC3 serine incorporator 3 20 20 20 q13.12 39833511 39859373 - 42558278 42584140 - 43124864 43150726 - 1580863;6480464 17353931;10559794;16547497;15489334;12477932;11780052;8889548;8125298;7566098;21297633;19322201;21988832;22925353 10955 B4DUE9;Q13530;Q5H936 AA294859;ABBA01052642;ABBA01052643;AF112227;AF153979;AK222923;AK295120;AK300618;AK309993;AMYH01011933;BC006088;BU739133;BX456085;CA950523;CB956722;CH471077;NM_006811;NM_198941;U49188;Z97053 AAB48858;AAD22448;AAD34641;AAH06088;ABM84318;ABM87713;BAD96643;BAG58147;BAG62311;EAW75915;EAW75916;NP_006802;NP_945179;Q13530 Hs.272168 1769828;1769838;2161679;2181978 RH16284;RH70652;SHGC-32730;STS-AA025063 AIGP1;DIFF33;SBBI99;TDE;TDE1;TMS-1 OTTHUMP00000031807;placental transmembrane protein (mouse testicular tumor differentially expressed);serine incorporator 3;transmembrane protein SBBI99;tumor differentially expressed 1;tumor differentially expressed protein 1;tumour differentially expressed 1 protein-coding ENSG00000132824 11699 06201 607165 VALIDATED 1346471 SERP2 stress-associated endoplasmic reticulum protein family member 2 13 13 13 q14.11 26004057 26027937 + 43845978 43869850 + 44947978 44971850 + 6480464 16189514;15489334;15057823;12477932 387923 F2Z2S5;H7C5W3;Q8N6R1 ABBA01021233;AL138960;AMYH01005081;BC029067;CH471075;NM_001010897 AAH29067;EAX08708;NP_001010897;Q8N6R1 Hs.377972 1338856;1685415 D13S326;RH92598 C13orf21;MGC35505;RP11-269C23.1;bA269C23.1 OTTHUMP00000018334;ribosome-associated membrane protein RAMP4-2;stress-associated endoplasmic reticulum protein 2 protein-coding ENSG00000151778 20607 16590 PROVISIONAL 1345816 SERPINA2P serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene 14 14 q32.13 93900404 93902896 - 94830651 94833039 - 1580863 2842251;17135331;15014966;11161981;15769666;18519826;2470331;2901833 390502 P20848 ABBA01030417;AL117259;AL132708;AMYH01005970;M19684;M19685;NG_032041 AAA51544;P20848 1646246;1731883 D14S1142;huma1ar2 ARGS;ATR;PIL;SERPINA2;psiATR APPROVED pseudo 8985 107410 INFERRED 1345910 SERPINA11 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 14 14 14 q32.13 74964705 74975013 - 93978554 93988875 - 94908801 94919122 - 1302440;6480464 15014966 22808956;12477932 256394 Q86U17 ABBA01030416;ABBA01030417;AL132708;AMYH01005970;BC146962;BX248259;NM_001080451 AAI46963;AAI52931;CAD62587;NP_001073920;Q86U17 Hs.145890 OTTHUMP00000245877;antiproteinase-like 2;serpin A11 protein-coding ENSG00000186910 19193 PROVISIONAL 1348482 SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 14 14 q32.13 94023373 94053934 - 94953620 94984181 - 737633;1580863;6480464 12477932 15489334;15014966;19554505;18848328;18800627;18726871;18375437;17991760;16298335;16030142;22417310;19913121;20060144;20628086;20488498;20580037;19356820;19816707;19951565;19952124;20018186;20045145;20095887;20156923;20379614;17207965;20975299;20605615;20850423;22982016;21798959;20626239;21893030;21646731;21738955;21513939;23342091;22539588;19114623;21442174;21139048;22032341;22246907;21545478;22116078;23206449;23359189;23160181;23537643;23123830;23307819;23251661;23041430 145264 Q8IW75 ABBA01030414;ABBA01030415;ABBA01030416;AL132708;AL132990;AMYH01005970;AY177692;AY326420;BC040857;CH471061;NM_173850 AAH40857;AAO18649;AAP88384;ADQ33048;EAW81578;NP_776249;Q8IW75 Hs.99476 1782998 SHGC-101638 OL-64 OTTHUMP00000245883;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12;serpin A12;vaspin;visceral adipose tissue-derived serine protease inhibitor;visceral adipose-specific SERPIN protein-coding ENSG00000165953 18359 18038 PROVISIONAL 1601762 SERP1 stress-associated endoplasmic reticulum protein 1 3 3 3 q25.1 148672684 148677330 - 151742470 151747118 - 150259780 150264428 - 6480464 10601334;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;10931946;22526458;19913121;20628086;20516149;21103663;21832049;22419128;21816823;21956116 27230 C9JSB0;C9JUH5;Q9Y6X1 AA890577;AB022427;ABBA01058926;AC107426;AF136975;AK054644;AK090933;AK093929;AK098135;AK125413;AL136807;AMYH01013574;BC108314;BC112364;BC112365;CH471052;CR533472;DB022941;NM_014445;X75694 AAG49436;AAI08315;AAI12365;AAI12366;BAA81895;CAB66741;CAG38503;CAL37667;CAL38137;EAW78833;EAW78834;EAW78835;EAW78836;NP_055260;Q9Y6X1 Hs.713956 1660923;1660925;1735150;1857787;2128408;2132501;2161992 A002B48;D3S2808E;D3S2837E;G19910;RH15894;RH48541;SHGC-56912 MGC117327;MGC133321;MGC133322;RAMP4 OTTHUMP00000216427;ribosome associated membrane protein 4;ribosome-attached membrane protein 4;stress-associated endoplasmic reticulum protein 1 protein-coding ENSG00000120742 10759 18037 VALIDATED 1353693 SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010] 14 14 q32.13 93819403 93829349 - 94749650 94759596 - 1580102;1580104;1580863;6480464;7240710 10829076;15461625 11049983;10460162;18768472;18710385;17582153;16527896;16335952;16093243;16079143;15489334;15014966;12975309;12477932;22039093;9689066;22786881;21975032;22424030;21220417;20427285;19172319;20024489;19913121;20628086;11751269;20458435;21988832;23530052;22399118;22540147;22274138 51156 G3V2W1;Q9UK55 ABBA01030417;AF181467;AI174900;AK314877;AL117259;AMYH01005970;AY358597;BC022261;BX248011;CH471061;NG_021202;NM_001100607;NM_016186 AAD53962;AAH22261;AAQ88960;ABM82923;ABM86113;BAG37392;CAD62339;EAW81564;EAW81565;EAW81566;NP_001094077;NP_057270;Q9UK55 Hs.118620 1664173 D14S1218 PZI;ZPI OTTHUMP00000245857;OTTHUMP00000245858;OTTHUMP00000245859;PZ-dependent protease inhibitor;protein Z-dependent protease inhibitor;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10;serpin A10 APPROVED protein-coding ENSG00000140093 15996 09245 605271 REVIEWED 1352813 SERPINA13P serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene 14 14 14 q32.13 75163197 75169466 + 94176815 94183084 + 95107062 95113331 + 1302440 15014966 15769666;19240061;16395595;12975309;12477932;21903150 388007 Q6UXR4 ABBA01030411;ABBA01030412;AL049839;AMYH01005970;AY358238;CH471061;NR_015340 AAI56105;AAI56897;AAQ88605;EAW81593 Hs.527795 SERPINA13;UNQ6121 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 13 APPROVED pseudo ENSG00000187483 30909 18039 VALIDATED 1349357 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q32.1 93914451 93926782 - 94843084 94857029 - 1580863;1643158;1625796;1626391;1643144;1643147;1643148;1643154;1643155;1624236;1641805;1643168;1601202;1643145;1643149;1643164;2324964;4892125;4892128;4892126;2324960;2324975;2324959;4140387;2317811;6480464;6484113;6907045;7240710;5131869 15475529;11239198;10569800;17444595;10353322;10063411;1836309;1852102;16092147;12770935;11140575;16752182;12692006;7832094;12509927;20434574;19941265;19738092;21030517;2323846;19252908;18218118;20298391;12488200;20118217 21273701;17906067;16449193;8364590;15853774;12878203;15845869;16192646;59727;14718574;19590686;19515129;19368725;19306859;19292870;19197072;19181511;19180336;19129321;19115690;19073710;19010440;18766166;18725338;18723439;18686007;18609127;18594986;18550704;18534053;18519826;18515255;18504338;18495745;18433707;18353624;18340647;18309698;18294358;18283111;18264947;18258845;18164971;18089349;18060368;18031952;18029348;18028276;17972336;17855650;17727818;17693072;17688648;17660256;17659342;17654345;17650587;17635928;17573378;17261591;17240615;17237579;17204961;17203708;17006922;17003923;16979136;16954950;16900211;16887359;16875754;16859601;16819398;16802007;16759229;16622833;16617455;16608528;16581345;16540089;16531799;16501672;16449194;12009885;11991955;11936950;11862702;11848724;11834734;11785295;11773044;11754061;11744816;11562937;11436564;11427540;11368345;11317942;11295654;11260148;11202478;11199103;11178897;11148177;11131449;11057674;11034936;10933492;10867014;10716194;10708851;10677536;10651487;10612848;9545340;9466920;9459000;9079644;8939743;8756325;8543039;16387939;16385367;16344560;16339299;16335952;16312203;16278826;16263699;16204591;16183649;16179568;16175011;16172282;16137891;16099106;16044402;16029614;16011217;15994391;15927063;15820782;15820772;15775753;15709777;15681822;15674733;15659365;15653097;15612581;15532029;15498560;15489334;15474273;15454649;15342556;15271889;15271689;15266208;15131125;15100318;15084671;15079023;15014966;14968215;14766207;14766206;14760718;14639110;14616761;14551891;14523999;12934194;12933574;12893950;12878320;12860985;12815594;12815101;12796484;12786756;12754519;12689922;12649292;12626422;12612303;12608432;12578879;12528263;12514663;12498804;12492914;12477932;12464660;12464659;12460583;12452840;12372062;12368052;12324297;12244055;12223217;12119297;12114510;12083479;12023832;12023831;21172656;22735536;22995909;8358043;8076819;7980522;7977369;7566098;7045697;7031661;6983488;6982267;6979715;6976274;6966283;6604220;6387509;6333329;6332197;6322161;6319097;6191979;6153632;6093867;3876243;3873938;3500042;3491072;3490426;3262617;3257351;2985281;2901226;2787118;2786335;2785270;2784123;2696185;2669992;2610933;2606478;2539391;2394452;2390072;2339709;2316526;2309708;2254451;2227940;2035534;1975477;1967187;1905728;1859394;1602151;1429867;1406456;1079736;12621451;8227051;1702714;14687906;20435667;20371432;20477988;20463814;21138453;21470421;17207965;21067581;19902353;20561599;20811639;12890555;15795238;16321984;18931508;19251783;19251947;19344972;19398551;19417089;19437508;19628210;19657220;19729499;19747908;19751191;19763368;19789190;19815548;19853488;19944704;19948975;19956452;19961268;20049513;20086110;20109307;20119870;20150872;20170533;20226649;20228200;20379614;20425789;20521180;7523394;19913121;20558996;20595457;20628086;20634282;20739079;21173712;23251618;19794310;20108056;20667823;20666480;20736409;21060150;16341674;20428906;20886426;21335450;20827781;21134340;21258324;21505264;21263074;21138571;22926906;23088986;23342621;22723858;21477074;21575917;21791445;21702661;21752289;18624398;21786332;20360068;22008137;21727732;21821620;21925577;6980881;21832065;22184992;21670848;21763297;22139150;22215832;21199683;22075288;22590577;22793939;22808956;22993338;22162908;22363634;22274560;18264092;21135095;21909096;22555971;22634621;22708402;20301692;22356581;22392975;23381957;23144969;19914915;17380188;21988832;22841602;22971141;23750785;22896658;22912729;22414631;22746289;23226468;23067211;12787886;17258834;19917667;21698349;21843112;22821488;22916037;22544422;22933512;21103663;23017899;23356641 5265 E9KL23;G3V2B9;G3V387;G3V4I7;G3V544;G3V5R8;Q86U18 AA317159;ABBA01030417;AF119873;AK026174;AK315637;AL132708;AMYH01005970;BC011991;BC015642;BC070163;BG483969;BM844817;BM923322;BP296710;BP300943;BP301274;BT019455;BX161449;BX247968;BX248002;BX248257;BX477352;CD685665;CH471061;DA427262;DA428299;DA433050;DA433058;DA672472;DA675981;DA966896;DQ174461;DQ343612;DQ682455;FJ830375;GU727620;J00064;J00066;J00067;J02619;K01396;K02212;M11465;M26123;NG_008290;NM_000295;NM_001002235;NM_001002236;NM_001127700;NM_001127701;NM_001127702;NM_001127703;NM_001127704;NM_001127705;NM_001127706;NM_001127707;V00496;X01683;X02920;X05826;X05827;X17122 AAA51545;AAA51546;AAA51547;AAB59369;AAB59370;AAB59371;AAB59375;AAB59495;AAF69627;AAH11991;AAH15642;AAV38262;ABA41642;ABC62080;ABG73380;ACO55054;ADQ32725;ADU87622;BAG38005;CAA23755;CAA25838;CAA26677;CAA29267;CAA34982;CAD61914;CAD62306;CAD62334;CAD62585;EAW81570;EAW81571;EAW81572;EAW81573;EAW81574;EAW81575;EAW81576;NP_000286;NP_001002235;NP_001002236;NP_001121172;NP_001121173;NP_001121174;NP_001121175;NP_001121176;NP_001121177;NP_001121178;NP_001121179;P01009 Hs.525557 1664188;1685596;1685598;1722201;1737309;1740973;1741037;1741039;1741065;1741643;1767801;1775590;1777238;1791330;1791332;2158900;2177820;2184250;5015575;5037552;5117266;5119773;5119865 D14S1217;D16S2648;D8S2279;G60004;GDB:177077;GDB:177505;GDB:177506;GDB:177563;GDB:181554;GDB:181604;GDB:185734;GDB:454785;PMC102814P1;PMC102814P2;RH1620;RH1623;RH1712;RH18081;RH68269;SGC32646;SHGC-32639;WIAF-2218;hsa1attr A1A;A1AT;AAT;MGC23330;MGC9222;PI;PI1;PRO2275;alpha1AT OTTHUMP00000197150;OTTHUMP00000197151;OTTHUMP00000197152;OTTHUMP00000197153;OTTHUMP00000197154;OTTHUMP00000245864;alpha-1 protease inhibitor;alpha-1-antiproteinase;alpha-1-antitrypsin;alpha-1-antitrypsin null;protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin;serine (or cysteine) proteinase inhibitor, clade A, member 1;serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 1;serpin A1 APPROVED protein-coding ENSG00000197249 8941 02463 107400;606963;613490 REVIEWED 1348774 SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 14 14 q32.13 94097536 94105996 + 95027783 95036243 + 1302507;1580289;1580863;6480464 8227002;8950506 7474653;1334488;18029348;17729417;17714861;16335952;15489334;15014966;12810351;12757180;12754519;12734113;12477932;12384424;11341921;11258665;11016932;10991942;10862973;10547191;9889257;9826127;8853434;8648266;7835886;2558505;20509975;19913121;20628086;19858207;16344560;23190873;21900206;22710204 5267 P29622 ABBA01030412;AK309586;AK313196;AL049839;AMYH01005970;BC014992;BX248009;BX248760;CH471061;L19684;L28101;NM_006215 AAA59454;AAC41706;AAH14992;ABM83126;ABM86321;BAG36012;CAD62337;CAD66567;EAW81579;EAW81580;EAW81581;NP_006206;P29622 Hs.719893 1700414;1753299;1858024;2119437;2169191 D14S1311;RH103828;RH65904;RH68729;SHGC-81713 KAL;KLST;KST;PI-4;PI4;kallistatin OTTHUMP00000244583;OTTHUMP00000244584;OTTHUMP00000244585;PI-4;kallikrein inhibitor;kallistatin;peptidase inhibitor 4;protease inhibitor 4 (kallistatin);serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4;serpin A4 protein-coding ENSG00000100665 8948 01004 147935 PROVISIONAL 1343168 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008] 14 14 q32.1 94148467 94160143 + 95078714 95090390 + 1580109;1580110;1580863;5147410;5147435;5147449;5147441;5147423;5147448;5147458;5147446;5147433;5147434;5147439;6480464 12126519;12685871;11581179;16273852;8244391;10849024;7562495;8574716;2432615;8620411;17261175;16649161;11120905 15159602;8849841;2016749;14668352;12709365;14687906;2404007;12475184;11835318;9880565;14718574;19590686;19525388;19390575;19341158;19247692;19165527;19008959;18991685;18842294;18408372;18401426;18383875;18248459;18078695;18056971;17854420;17690329;17608807;16968986;16892178;16565071;16453284;16424370;16335952;16303762;16278826;16137793;15935385;15907346;15718509;15659365;15653173;15638460;15612581;15546506;15542006;15530656;15489334;15482730;15014966;14760718;14702039;12782964;12754519;12736093;12600202;12477932;12324297;12023832;11992569;11959399;11936240;11916200;11798857;11769703;11735417;11692021;11385264;11317942;11295654;11290389;11289720;11274154;11132933;11099722;11096092;10829039;10759471;10660528;10618372;10512690;10228625;10209959;10048303;9824262;9698370;9635374;9580375;9521649;9428387;9261179;9042371;8836107;8739078;8732755;8718849;8376411;8365378;8267879;8226889;8216224;8011628;7966721;7924407;7873202;7759598;7588564;7528097;7521171;6762318;6687683;6606438;6556193;6547997;3637050;3492865;3490907;3485824;3260956;3257719;3028924;2945424;2787670;2456771;2435303;2432851;2190106;1618300;1351206;1311327;15131125;16712791;123121;16099106;19578796;19789190;19907165;19933216;19959196;20117085;20158662;8647626;11161981;17207965;21067581;19913121;20628086;20302328;20378355;20444200;21296644;21674799;21730889;21693707;22079093;22246292;22294107;22806587 12 G3V3A0;G3V595;G3V5I3;Q6NSC9 AB209060;ABBA01030412;AF089747;AK093049;AK096120;AK123091;AL049839;AMYH01005970;AY513275;AY513276;BC003559;BC010530;BC013189;BC034554;BC070265;BG565041;CB111903;CH471061;CS081989;J05176;K01500;M18906;NG_012879;NM_001085;X00947;X68733 AAA51543;AAA51559;AAA51560;AAD08810;AAH03559;AAH10530;AAH13189;AAH34554;AAH70265;AAT08028;AAT08029;ADQ32760;BAD92297;BAG52641;BAG53869;CAA25459;CAA48671;CAI95958;EAW81587;EAW81588;EAW81589;EAW81590;NP_001076;P01011 Hs.534293;Hs.710488 1661288;1680599;1688464;1793760;2109823;2127849;2135665;2176717;2179870 D14S845;G31126;PMC27764P1;RH1625;RH78280;RH79711;RH91507;SERPINA3_7738;SHGC-32982 AACT;ACT;GIG24;GIG25;MGC88254 OTTHUMP00000028439;OTTHUMP00000244599;OTTHUMP00000244601;alpha-1-antichymotrypsin;cell growth-inhibiting gene 24/25 protein;growth-inhibiting protein 24;growth-inhibiting protein 25;serine (or cysteine) proteinase inhibitor, clade A, member 3;serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 3;serpin A3 APPROVED protein-coding ENSG00000196136 16 00120 107280 REVIEWED 1351148 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012] X X q22.2 105163853 105167722 - 105277190 105282718 - 1600137;1600139;1580863;2312329;2312330;2312332;6480464;7240710 2106883;2505856;8742570;1867879;6768790 8232304;3094014;14718574;7499319;17887925;16335952;15772651;15489334;12871948;12477932;11931635;11916615;11889160;11600582;11147833;11061524;9768672;9510125;8530630;8268226;2969453;7951486;7557975;2501669;2495303;2155256;2115061;1943753;1906892;1906047;1903654;1901689;1515456;1294376;414747;22820390;20429632;19415532;21325280;23458682;23750785 6906 P05543 ABBA01018872;ABBA01018873;AK310778;AMYH01022815;BC020747;BJ996322;CH471120;L13470;M14091;M31218;NG_021252;NM_000354;T78892;X64171;Z83850 AAA16067;AAA60616;AAH20747;ABM82913;ABM86103;CAA45509;EAX02745;EAX02746;EAX02747;EAX02748;NP_000345;P05543 Hs.76838 1668776;1702110;1791256;1798144;2140824;2187070;5022804 A007H29;DXS9706;GDB:192500;MARC_8259-8260:996688468:1;SERPINA7;SERPINA7_2610;STS-M14091 FLJ17820;TBG OTTHUMP00000023778;OTTHUMP00000023779;T4-binding globulin;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7;serpin A7;thyroxin-binding globulin;thyroxine-binding globulin APPROVED protein-coding ENSG00000123561 11583 02438 314200 REVIEWED 1353758 SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] 14 14 q32.1 93840338 93859441 - 94770585 94789688 - 1580863;6480464;7240710 14760718;3299377;19336370;19172388;19086053;19011238;18636124;18513745;17547679;17245537;16381901;16335952;16222046;15877287;15554358;15489336;15489334;15014966;14871264;12780753;12554596;12477932;12364459;12154211;11893012;11752456;11502797;11076863;10634411;10474016;10436419;9739422;9383284;9378466;8539782;8212073;8180202;8125298;7912884;7878688;7734053;7172869;3751467;3386241;3347061;2821037;2612005;2608068;2253941;2240617;1504007;932172;19723618;20226861;20379614;20403506;20354921;11161981;20716560;19913121;20628086;22932886;20839151;23300763;21325280;21795453;21750736;22072571;22747683;22242800;22337907;21558494;22576823 866 G3V350;G3V4V7;P08185 ABBA01030417;AK225591;AK290821;AK313760;AL117259;AMYH01005970;AV689566;BC017462;BC036818;BC056259;BC058021;CH471061;J02943;M31662;NG_011796;NM_001756 AAB59523;AAH56259;AAH58021;BAF83510;BAG36499;CAL37483;CAL37486;CAL38045;CAL38218;EAW81567;EAW81568;NP_001747;P08185 Hs.532635 1667219;1740601;1743955;2117805 D14S1141;GDB:378193;RH17576;SHGC-12744 CBG OTTHUMP00000245861;corticosteroid binding globulin;corticosteroid-binding globulin;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6;serpin A6;transcortin APPROVED protein-coding ENSG00000170099 1540 00419 122500;611489 REVIEWED 1346137 SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012] 14 14 q32.1 94117564 94129205 + 95047706 95059457 + 1580299;1580863;6480464;6907045 12139754 7521127;11120760;15853774;9510955;14718574;18974053;18362344;18193533;18184931;17450526;17332248;17258797;16335952;15878512;15822942;15489334;15377716;15014966;14760718;14702039;14696115;14518028;12878585;12575940;12477932;11864713;11722589;11686324;11583740;11123896;10805286;10438718;10417615;10391209;10209959;9556620;9473218;9368023;9365930;8732755;8713781;8665956;8589203;8471250;8384496;8381582;8148499;8148485;7525654;7509746;6294098;3027058;2752144;2556811;2551064;2173165;2172989;1714450;1372913;1318261;9016396;16169070;11161981;19765701;20019810;8796266;21056543;20409682;19913121;20628086;16344560;21102419;22206708;10340997;6323392;15328353;1725227;2844223;22205989;22721676;8536714;3501295 5104 B4DDH1;G3V264;G3V265;G3V2M1;G3V345;G3V3F5;G3V3Y3;G3V482;G3V4B4;G3V5Q9;P05154 ABBA01030412;AF361796;AI114432;AK096131;AK293192;AK298279;AK310869;AL049839;AL080185;AMYH01005970;BC008915;CH471061;DC394575;HY003178;J02639;M68516;NG_032908;NM_000624;S58545;S69366;U35464 AAA02811;AAA35688;AAB26244;AAB30461;AAB60386;AAH08915;AAK27240;ABM84453;ABM87551;BAG53218;BAG56732;BAG60539;CAB45766;EAW81582;EAW81583;EAW81584;EAW81585;EAW81586;NP_000615;P05154 Hs.159628;Hs.741309 1658719;1674930;1722431;1742875;1742969;1796752;1850674;1855860;2144530;2177506 D14S1340;G60289;GDB:212834;GDB:217872;RH65034;RH68959;RH70612;SERPINA5_1304;SHGC-12750;STS-R07994 PAI-3;PAI3;PCI;PCI-B;PLANH3;PROCI OTTHUMP00000244589;OTTHUMP00000244592;OTTHUMP00000244595;PAI-3;acrosomal serine protease inhibitor;plasma serine protease inhibitor;plasminogen activator inhibitor 3;plasminogen activator inhibitor III;plasminogen activator inhibitor-3;protein C inhibitor;serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5;serpin A5 APPROVED protein-coding ENSG00000188488 8723 03503 601841 REVIEWED 1312435 SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 14 14 14 q32.13 74984948 74998549 - 93998811 94012423 - 94929058 94942670 - 6480464 18550480;17975119;17898315;17447896;15014966;12975309;12819018;12477932;11069088;15489334;18799872;19023099 327657 Q86YP6 ABBA01030416;AK301082;AL132708;AMYH01005970;AY185496;AY185497;AY220118;AY220119;AY220120;AY220121;AY358700;BC089422;BC111498;CH471061;NM_001042518;NM_175739 AAI11499;AAO32345;AAO32346;AAO65242;AAO65243;AAO65244;AAO65245;AAQ89063;BAG62686;EAW81577;NP_001035983;NP_783866;Q86WD7 Hs.317970 GCET1;MGC131906;SERPINA11;SERPINA11b OTTHUMP00000236565;OTTHUMP00000236566;OTTHUMP00000236568;OTTHUMP00000236592;OTTHUMP00000236593;OTTHUMP00000236594;centerin;germinal center B cell-expressed transcript 1;germinal center B-cell-expressed transcript 1 protein;serine proteinase inhibitor A11;serpin A9 protein-coding ENSG00000170054 15995 11546 VALIDATED 1342655 SERPINB2L1 SERPINB2-like 1 5056 8585 1351967 SERPINB2L2 SERPINB2-like 2 5057 8586 1314687 SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 6 6 p25 2778732 2787080 - 2832566 2842283 - 1580863;6480464;6907045 1376927;15952740;15489334;14574404;12665801;12477932;12189154;12114510;11747453;10924364;9858835;9630619;8530031;8125298;7654387;7578269;1286667;20485444;20424473;20817705;21248149;23269243;18781797;21139048;21890473;21906983;22145905;22421620;16305753;16341674;16569592;19213596;19946248;20335295;21993616;23002442 1992 B4DNT0;P30740 ABBA01048627;AF053630;AK223370;AK291327;AK298044;AK304641;AK309765;AK312973;AL139092;AMYH01016026;AW451326;BC009015;BI521531;BM785367;BM823453;BT006928;BU942473;CH471087;M93056;NM_030666;NR_073111;NR_073112 AAC31394;AAH09015;AAP35574;BAD97090;BAF84016;BAG60342;BAG65420;EAW55089;EAW55090;NP_109591;P30740 Hs.381167 1744183;1848903;2150621;2158174;5015861;7185938 D10S16;GDB:435254;RH17753;RH35877;SHGC-34164 EI;ELANH2;LEI;M/NEI;MNEI;PI-2;PI2 OTTHUMP00000015943;PI-2;anti-elastase;leukocyte elastase inhibitor;monocyte/neutrophil elastase inhibitor;peptidase inhibitor 2;protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1;serpin B1 APPROVED protein-coding ENSG00000021355 3311 00555 130135 REVIEWED 1343942 SERPINB12 serpin peptidase inhibitor, clade B (ovalbumin), member 12 18 18 18 57943890 57954746 + 59374373 59385224 + 61223393 61234244 + 1580863;6480464 11604408;12477932;21145461;21800051;20360068;21139048;21628590;19380743 89777 Q3SYB4;Q96P63 ABBA01056223;AC090307;AF411191;AK309754;AMYH01009056;BC103884;BC103885;CH471096;NM_080474 AAI03885;AAI03886;AAL05571;EAW63149;NP_536722;Q96P63 Hs.348541 2106595 SERPINB12__5385 MGC119247;MGC119248;YUKOPIN OTTHUMP00000163678;OTTHUMP00000180649;serpin B12 protein-coding ENSG00000166634 14220 11548 PROVISIONAL 733342 SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by a well-conserved tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-10 (PI10; SERPINB10) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010] 18 18 18 q21.3 58303195 58322926 + 59733725 59753456 + 61582745 61602476 + 1580863;6480464;6907045 7592909;16172807;15489334;12477932;10871600;10196205;9268635;2690952;20433722;22465717 5273 H7BYS2;H7C004;P48595 ABBA01056230;AC009802;AC072051;AK314936;AMYH01009057;BC096217;BC096218;BC096219;BC096220;CH471096;NM_005024;U35459 AAC50282;AAH96217;AAH96218;AAH96219;AAH96220;BAG37442;EAW63162;NP_005015;P48595 Hs.158339 1725145;1730521;1798418;1798482;1800060;1805132;1810504;1812310;1812470;1814878;1817622;1821472;1822538;1826344;1829072;1831292;1834008;1836354;1839370;1841038;1841380;1841578;1843108;1882314;1882316;1882318;1882320;1882322;1882324;1882326;1882328;1882330;1882332;1882334;1882336;1882338;1882340;1882342;1882344;1882346;1882348;1882350;1882352;1882354;1882356;1882358;1882360;1882362;1882364;1882366;1882368;1882370;1882372;1882374;1882376;1882378;1882380;1882382;1882384;1882386;1882388;1882390;1882392;1882394;1882396;1882398;1882400;1882402;1882404;1882406;1882408;1882410;1882412;1882414;1882416;1882418;1882420;1882422;1882424;1882426;1882428;1882430;1882432;1882434;1882436;1882438;1882440;1882442;1882444;1882446;1882448;1882450;1882452;1882454;1882456;1882458;1882460;1882462;1882464;1882466;1882468;1882470;1882472;1882474;1882476;1882478;1882480;1882482;1882484;1882486;1882488;1882490;1882492;1882494;1882496;1882498;1882500;1882502;1882504;1882506;1882508;1882510;1882512;2154922;2200278;2200280;2200282;2200284;2200286;2200288;2200290;2200292;2200294;2200296;2200298;2200300;2200302;2200304;2200306;2200308;2200310;2217954 D18S80;ECD00046;ECD00078;ECD00885;ECD03508;ECD06245;ECD07162;ECD07242;ECD08470;ECD09863;ECD11820;ECD12357;ECD14285;ECD15663;ECD16782;ECD18152;ECD19339;ECD20867;ECD21712;ECD21886;ECD21986;ECD22762;REN11850;REN11851;REN11852;REN11853;REN11854;REN11855;REN11856;REN11857;REN11858;REN11859;REN11860;REN11861;REN11862;REN11863;REN11864;REN11865;REN11866;REN11867;REN11868;REN11869;REN11870;REN11871;REN11872;REN11873;REN11874;REN11875;REN11876;REN11877;REN11878;REN11879;REN11880;REN11881;REN11882;REN11883;REN11884;REN11885;REN11886;REN11887;REN11888;REN11889;REN11890;REN11891;REN11892;REN11893;REN11894;REN11895;REN11896;REN11897;REN11898;REN11899;REN11900;REN11901;REN11902;REN11903;REN11904;REN11905;REN11906;REN11907;REN11908;REN11909;REN11910;REN11911;REN11912;REN11913;REN11914;REN11915;REN11916;REN11917;REN11918;REN11919;REN11920;REN11921;REN11922;REN11923;REN11924;REN11925;REN11926;REN11927;REN11928;REN11929;REN11930;REN11931;REN11932;REN11933;REN11934;REN11935;REN11936;REN11937;REN11938;REN11939;REN11940;REN11941;REN11942;REN11943;REN11944;REN11945;REN11946;REN11947;REN11948;REN11949;RH118875;RH18042;SERPINB10_2979;stSG619537;stSG619538;stSG619539;stSG619540;stSG619541;stSG619542;stSG619543;stSG619544;stSG619545;stSG619546;stSG619547;stSG619548;stSG619549;stSG619550;stSG619551;stSG619552;stSG619553 PI-10;PI10;bomapin OTTHUMP00000066999;PI-10;bomapin;peptidase inhibitor 10;protease inhibitor 10 (ovalbumin type, bomapin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10;serpin B10 APPROVED protein-coding 8942 03635 602058 PROVISIONAL 1315147 SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) 18 18 18 58090689 58111621 + 59521174 59542103 + 61370194 61391123 + 1580863;6480464 17567994;17562709;15489334;12477932;17207965;22393410;22289513 89778 F5GWT8;F5GY69;F5GYW9;Q96P14 ABBA01056224;ABBA01056225;ABBA01056226;AC069356;AF419953;AF419954;AF419955;AK292775;AK296705;AK309537;AK309970;AMYH01009057;AY739645;AY792323;AY792324;AY792325;AY792326;BC069596;BC130370;BC130372;CH471096;DC383104;NM_080475 AAH69596;AAL16056;AAL16057;AAL16058;AAU81932;AAV73920;AAV73921;AAV73922;AAV73923;ADQ31989;BAF85464;BAG59299;EAW63158;NP_536723;Q96P15 Hs.350958 1798562;1800274;1800938;1802566;1814640;1816322;1817620;1818008;1818686;1820364;1820568;1821974;1822118;1822996;1825686;1829716;1831054;1831480;1834366;1841270;1841886;1842876;1845900;1846390;1880486;1880488;1880490;1880492;1880494;1880496;1880498;1880500;1880502;1880504;1880506;1880508;1880510;1880512;1880514;1880516;1880518;1880520;1880522;1880524;1880526;1880528;1880530;1880532;1880534;1880536;1880538;1880540;1880542;1880544;1880546;1880548;1880550;1880552;1880554;1880556;1880558;1880560;1880562;1880564;1880566;1880568;1880570;1880572;1880574;1880576;1880578;1880580;1880582;1880584;1880586;1880588;1880590;1880592;1880594;1880596;1880598;1880600;1880602;1880604;1880606;1880608;1880610;1880612;1880614;1880616;1880618;1880620;1880622;1880624;1880626;1880628;1880630;1880632;1880634;1880636;1880638;1880640;1880642;1880644;1880646;1880648;1880650;1880652;1880654;1880656;1880658;1880660;1880662;1880664;1880666;1880668;1880670;1880672;1880674;1880676;1880678;1880680;1880682;1880684;1880686;2110727;2199986;2199988;2199990;2199992;2199994;2199996;2199998;2200000;2200002;2200004;2200006;2200008;2200010;2200012;2200014;2200016;2200018;2200020 ECD00120;ECD00995;ECD01334;ECD02170;ECD08350;ECD09203;ECD09862;ECD10059;ECD10407;ECD11257;ECD11359;ECD12073;ECD12145;ECD12586;ECD13951;ECD15990;ECD16663;ECD16877;ECD18331;ECD21831;ECD22145;ECD22645;ECD24170;ECD24415;REN10932;REN10933;REN10934;REN10935;REN10936;REN10937;REN10938;REN10939;REN10940;REN10941;REN10942;REN10943;REN10944;REN10945;REN10946;REN10947;REN10948;REN10949;REN10950;REN10951;REN10952;REN10953;REN10954;REN10955;REN10956;REN10957;REN10958;REN10959;REN10960;REN10961;REN10962;REN10963;REN10964;REN10965;REN10966;REN10967;REN10968;REN10969;REN10970;REN10971;REN10972;REN10973;REN10974;REN10975;REN10976;REN10977;REN10978;REN10979;REN10980;REN10981;REN10982;REN10983;REN10984;REN10985;REN10986;REN10987;REN10989;REN10990;REN10992;REN10993;REN10994;REN10995;REN10996;REN10997;REN10998;REN10999;REN11000;REN11001;REN11002;REN11003;REN11004;REN11005;REN11006;REN11007;REN11008;REN11009;REN11010;REN11011;REN11012;REN11013;REN11014;REN11015;REN11016;REN11017;REN11018;REN11019;REN11020;REN11021;REN11022;REN11023;REN11024;REN11025;REN11026;REN11027;REN11028;REN11029;REN11030;REN11031;REN11032;REN11033;REN11034;SERPINB11__6819;stSG619383;stSG619384;stSG619385;stSG619386;stSG619387;stSG619388;stSG619389;stSG619390;stSG619391;stSG619392;stSG619393;stSG619394;stSG619395;stSG619396;stSG619397;stSG619398;stSG619399;stSG619400 EPIPIN;MGC163242;MGC163244;SERPIN11 OTTHUMP00000202800;serpin B11;serpin peptidase inhibitor, clade B (ovalbumin), member 11 protein-coding ENSG00000206072 14221 11547 VALIDATED 1312230 SERPINB13 serpin peptidase inhibitor, clade B (ovalbumin), member 13 18 18 q21.33 59405580 59417413 + 61254534 61266433 + 1580863;6480464;6907045 10512713;9297979;19569240;16433682;16357159;15885077;15489334;12809493;12504904;12477932;11313015;11004515;10527881;19690890;21723253;22593614 5275 C9JL93;F8WE70;H7BZS9;Q9UIV8 ABBA01056223;AC090307;AF169949;AF216854;AJ001696;AJ001697;AJ001698;AJ278717;AK290323;AK296797;AK298049;AK303867;AK303979;AK313486;AL050177;AMYH01009056;BC101821;BC143402;CH471096;DC346089;NM_012397;X98307 AAD55765;AAF72879;AAI01822;AAI43403;BAF83012;BAG36269;BAH12433;BAH12713;BAH14070;BAH14090;CAA04935;CAA04936;CAA04937;CAA66951;CAC03569;EAW63150;EAW63151;EAW63152;EAW63153;NP_036529;Q9UIV8 Hs.241407 1659335;1755069;1799360;1800712;1809268;1833538;1879566;1879568;1879570;1879572;1879574;1879576;1879578;1879580;1879582;1879584;1879586;1879588;1879590;1879592;1879594;1879596;1879598;1879600;1879602;1879604;1879606;1879608;1879610;1879612;1879614;2199880;2199882;2199884;2199886 ECD00529;ECD01217;ECD05624;ECD17912;REN10471;REN10472;REN10473;REN10474;REN10475;REN10476;REN10477;REN10478;REN10479;REN10480;REN10481;REN10482;REN10483;REN10484;REN10485;REN10486;REN10487;REN10488;REN10489;REN10490;REN10491;REN10492;REN10493;REN10494;REN10495;RH47046;SHGC-142006;stSG619324;stSG619325;stSG619326;stSG619327 HSHUR7SEQ;HUR7;MGC126870;PI13;headpin HURPIN;OTTHUMP00000066811;PI-13;UV-B repressed sequence, HUR 7;haCaT UV-repressible serpin;peptidase inhibitor 13;protease inhibitor 13 (hurpin, headpin);proteinase inhibitor 13;serpin B13 protein-coding ENSG00000197641 8944 05118 604445 VALIDATED 1343432 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 18 18 q21.3 59705922 59722100 + 61554939 61571124 + 1580863;6480464;6907045 21314733;19074642;18977990;18690354;18632617;18472001;17696882;17657675;17567994;17267840;17141398;16923810;16459332;16344560;16214170;16113755;15887231;15767426;15500643;15489334;14653443;12944478;12883638;12682008;12578825;12477932;12105855;11949838;11929770;10438806;10393034;10391209;10368272;9892694;9846056;9780231;9268635;8388810;8152607;7867722;7506655;3496414;3325828;3257578;3029122;2845977;2799763;2494165;2471561;2303256;2166055;2161846;1286667;7499264;19238444;19117638;14732874;15346200;19423540;19650060;19690890;19926580;20406964;20438785;18029348;20800603;19913121;20628086;20628624;20494554;16397580;20974129;20845058;21316840;20838737;20205627;21477997;21606492;21832049;21744990;21976669;22334683;23474086;23527801 5055 E7EPJ9;E7ERB5;E9PDK7;P05120 A21238;A21254;A32415;ABBA01056230;AC072051;AK313159;AMYH01009057;BC012609;CD366374;CH471096;DA543366;DQ656059;J02685;J03603;M18082;M23092;M24657;M31546;M31547;M31548;M31549;M31550;M31551;NM_001143818;NM_002575;Y00630 AAA36413;AAA36797;AAA60004;AAA60005;AAA60006;AAA60348;AAH12609;ABM83793;ABM87115;BAG35977;CAA01535;CAA01539;CAA02099;CAA68666;EAW63160;EAW63161;NP_001137290;NP_002566;P05120 Hs.594481 1657813;1710838;1742953;1778965;1800876;1802156;1805804;1808342;1810056;1810638;1811480;1811820;1813992;1819136;1821084;1821746;1826450;1828702;1829570;1831182;1831886;1832272;1834752;1843164;1844974;1882070;1882072;1882074;1882076;1882078;1882080;1882082;1882084;1882086;1882088;1882090;1882092;1882094;1882096;1882098;1882100;1882102;1882104;1882106;1882108;1882110;1882112;1882114;1882116;1882118;1882120;1882122;1882124;1882126;1882128;1882130;1882132;1882134;1882136;1882138;1882140;1882142;1882144;1882146;1882148;1882150;1882152;1882154;1882156;1882158;1882160;1882162;1882164;1882166;1882168;1882170;1882172;1882174;1882176;1882178;1882180;1882182;1882184;1882186;1882188;1882190;1882192;1882194;1882196;1882198;1882200;1882202;1882204;1882206;1882208;1882210;1882212;1882214;1882216;1882218;1882220;1882222;1882224;2142282;2168296;2200240;2200242;2200244;2200246;2200248;2200250;2200252;2200254;2200256;2200258;2200260;2200262;2200264;2200266;5017641 8STS01;D18S1234;D18S1277;ECD01303;ECD01960;ECD03853;ECD05152;ECD06020;ECD06313;ECD06740;ECD06914;ECD08023;ECD10635;ECD11619;ECD11959;ECD14339;ECD15478;ECD15916;ECD16727;ECD17081;ECD17274;ECD18524;ECD22790;ECD23703;GDB:216921;REN11728;REN11729;REN11730;REN11731;REN11732;REN11733;REN11734;REN11735;REN11736;REN11737;REN11738;REN11739;REN11740;REN11741;REN11742;REN11743;REN11744;REN11745;REN11746;REN11747;REN11748;REN11749;REN11750;REN11751;REN11752;REN11753;REN11754;REN11755;REN11756;REN11757;REN11758;REN11759;REN11760;REN11761;REN11762;REN11763;REN11764;REN11765;REN11766;REN11767;REN11768;REN11769;REN11770;REN11771;REN11772;REN11773;REN11774;REN11775;REN11776;REN11777;REN11778;REN11779;REN11780;REN11781;REN11782;REN11783;REN11784;REN11785;REN11786;REN11787;REN11788;REN11789;REN11790;REN11791;REN11792;REN11793;REN11794;REN11795;REN11796;REN11797;REN11798;REN11799;REN11800;REN11801;REN11802;REN11803;REN11804;REN11805;RH17682;SHGC-84187;WI-7061;stSG619518;stSG619519;stSG619520;stSG619521;stSG619522;stSG619523;stSG619524;stSG619525;stSG619526;stSG619527;stSG619528;stSG619529;stSG619530;stSG619531 HsT1201;PAI;PAI-2;PAI2;PLANH2 OTTHUMP00000066997;monocyte Arg-serpin;placental plasminogen activator inhibitor;plasminogen activator inhibitor 2;plasminogen activator inhibitor, type II (arginine-serpin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2;serpin B2;urokinase inhibitor protein-coding ENSG00000197632 8584 01420 173390 VALIDATED 1351541 SERPINB8P1 serpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1 6 6 6 p25 4278098 4278494 + 2993970 2994566 + 3049072 3049468 + 10644448;19773279 11029 ABBA01048622;AL031963;AMYH01016029;NG_002645 PI8L1;SERPINB11;SERPINBP1 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), pseudogene 1 APPROVED pseudo 8953 INFERRED 1346118 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 18 18 q21.3 59473411 59480094 - 61322431 61329197 - 1580863;6480464;6907045 17353931;7724531;19112206;19070595;18657489;18385761;18155162;18078639;17523076;16701102;16681421;16344560;15906357;15902720;15733534;15677460;15489334;15001834;14993646;14970861;14719077;14654899;12975381;12949073;12874860;12820321;12773976;12477932;11267667;10956412;10653592;9548757;21526154;8125298;2840187;2208001;1958219;20212457;20428762;20586028;19332150;19423540;19959474;20089382;20406964;20438785;20840788;21383048;23239141;22563932;21800051;22088515;21139048;22079093;22406480;21737255;22359459;22451727;21145461;22829702;22808225;16549498;23185467;23349993;22999061;23383155 6317 Q8IWL4;Q9BYH9 AB034984;AB046399;ABBA01056223;AC069356;AF428135;AF428136;AF428137;AF428138;AF428139;AF461146;AJ515706;AK222746;AK222753;AK308383;AK310948;AK314805;AMYH01009057;AY190327;AY245778;AY245781;BC005224;BC008483;BT006748;CH471096;DB229922;EU852041;NM_006919;S66896;U19556;U19562;U19568 AAA86316;AAA86317;AAA97552;AAB20405;AAH05224;AAO11731;AAO92269;AAO92272;AAP35394;AAQ04218;AAQ04219;AAQ04220;AAQ04221;AAQ04222;AAQ04770;ABM84648;ABM92177;ACF21012;BAB21524;BAB40772;BAD96466;BAD96473;BAG37332;CAD56658;EAW63156;EAW63157;NP_008850;P29508 Hs.227948 1673566;1719769;1730529;1800430;1800814;1801546;1802926;1807462;1809180;1809182;1809588;1811818;1814938;1821972;1823198;1836304;1838054;1841106;1844876;1879936;1879940;1879942;1879950;1879956;1879958;1879970;1879986;1879988;1879992;1879996;1880002;1880004;1880086;1880088;1880090;1880092;1880094;1880096;1880098;1880100;1880102;1880104;1880106;1880108;1880110;1880112;1880114;1880116;1880118;1880120;1880122;1880124;1880126;1880128;1880130;1880132;1880134;1880136;1880138;1880140;1880142;1880144;1880146;1880148;1880150;1880152;1880154;1880156;1880158;2118109;2135636;2170394;2199922;2199924;2199926;2199936;2199938;2199940;2199942;2199944;2199946;2199948 D18S1028;D18S86;ECD01075;ECD01269;ECD01651;ECD02352;ECD04703;ECD05580;ECD05581;ECD05786;ECD06913;ECD08500;ECD12072;ECD12688;ECD19313;ECD20198;ECD21747;ECD23654;G15930;REN10656;REN10658;REN10659;REN10663;REN10666;REN10667;REN10673;REN10681;REN10682;REN10684;REN10686;REN10689;REN10690;REN10731;REN10732;REN10733;REN10734;REN10735;REN10736;REN10737;REN10738;REN10739;REN10740;REN10741;REN10742;REN10743;REN10744;REN10745;REN10746;REN10747;REN10748;REN10749;REN10750;REN10751;REN10752;REN10753;REN10754;REN10755;REN10756;REN10757;REN10758;REN10759;REN10760;REN10761;REN10762;REN10763;REN10764;REN10765;REN10766;REN10767;RH123576;RH17905;RH71207;stSG619349;stSG619350;stSG619351;stSG619356;stSG619357;stSG619358;stSG619359;stSG619360;stSG619362;stSG619363 HsT1196;SCC;SCCA-1;SCCA-PD;SCCA1;T4-A OTTHUMP00000066804;OTTHUMP00000066805;protein T4-A;serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3;serpin B3;squamous cell carcinoma antigen 1 protein-coding ENSG00000057149 10569 02745 600517 VALIDATED 69089 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 18 18 q21.33 59295199 59323297 + 61144144 61172318 + 1580863;6480464;6907045 22011669;8290962;19309490;19221500;19148518;19147537;19090015;19073519;18931702;18698492;18665036;18597952;18367129;18343598;18247378;18236066;18234645;18091326;18091325;18042077;17490717;17458898;17446556;17301947;17203770;17203179;17189399;16936308;16892558;16720730;16633061;16614520;16604823;16540429;16491398;16329135;16304843;16227634;16203989;16049007;16049006;16007219;15907209;15760906;15731774;15713631;15688005;15620951;15608662;15578720;15501821;15492782;15353310;15309707;15256060;15197584;15145521;15009909;14991928;14761935;14743202;14732229;14716296;14670180;14578190;14534696;14532972;12969792;12964023;12799381;12789271;12786889;12753703;12644823;12629351;12533266;12477932;12425757;12384513;12366809;12231537;12220518;12127964;12037665;11969337;11788595;11751384;10828881;9433491;9389773;7797587;7724531;21109985;20337574;20697987;20132554;19222699;19462894;19473451;19728335;19906413;19966016;20092039;20099971;20211623;20334895;20346150;20105109;20336301;20517662;20075396;20363977;20459532;19909580;16982778;18060631;21048031;20349288;21187389;21622623;21330826;20939879;21069375;21439064;22292406;21617230;22857708;21502940;18029348;21800051;20360068;21903246;21856005;21606500;21833477;21943228;21732742;21855619;21139048;21725612;22076034;16009940;22825520;23079206;22962304;22780967 5268 C9JLM5;P36952 ABBA01056218;ABBA01056219;ABBA01056220;ABBA01056221;ABBA01056222;AC036176;AK301667;AK312765;AL602439;AMYH01009056;BC020713;BM955647;BX640597;CH471096;CV575332;NM_002639;U04313 AAA18957;AAH20713;BAG35631;BAG63141;CAE45703;EAW63145;EAW63146;EAW63147;EAW63148;NP_002630;P36952 Hs.55279 1744179;1744181;1773184;1796754;2167786;5015607;5118412 D11S3014;D11S3270;GDB:435240;GDB:435245;RH17976;SERPINB5_1312;SHGC-12569 PI5;maspin OTTHUMP00000180654;PI-5;peptidase inhibitor 5;protease inhibitor 5 (maspin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5;serine (or cysteine) proteinase inhibitor, clade b, member 5;serpin B5 protein-coding ENSG00000206075 8949 01111 154790 VALIDATED 1351173 SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4 18 18 q21.3 59455473 59462482 - 61304493 61311502 - 1580863;6480464;6907045 17353931;7589435;9931463;18097581;17016656;16820864;16549498;21145461;16344560;16211231;15677460;15489334;14970861;14630915;12702576;12477932;12437110;11267667;10956412;10852705;10653592;9828132;8889548;7724531;21338226;20428762;19070595;19339807;19615732;19956912;19959474;12949073;21182205;22937809;23382074;21576355;21628590;21857942;22406480;22451727;22576068;22808225;23168150 6318 C9JZ65;F8W9L1;H0Y5H9;P48594 AB005548;AB035089;AB046400;ABBA01056223;AC069356;AF461147;AK292212;AMYH01009057;AY245780;AY245782;BC008399;BC017401;BU676816;CH471096;DB118691;NM_002974;U19557;U19576;X89015 AAA92602;AAA97553;AAH17401;AAO92271;AAO92273;AAQ04771;ABM83720;ABM87040;BAA75462;BAB21525;BAB40773;BAF84901;CAA61420;EAW63154;EAW63155;NP_002965;P48594 Hs.123035 1673566;1719769;1730529;1800430;1800814;1800984;1801546;1807462;1809336;1811818;1823198;1826448;1836304;1838054;1841106;1844876;1879930;1879932;1879934;1879936;1879938;1879940;1879942;1879944;1879946;1879948;1879950;1879952;1879954;1879956;1879958;1879960;1879962;1879964;1879966;1879968;1879970;1879972;1879974;1879976;1879978;1879980;1879982;1879984;1879986;1879988;1879990;1879992;1879994;1879996;1879998;1880000;1880002;1880004;1880006;1880088;1880094;1880130;1880134;1880136;1880138;1880140;1880142;1880144;1880152;1880154;1880158;2135636;2170394;2199914;2199916;2199918;2199920;2199922;2199924;2199926;2199944;2199946 D18S86;ECD01075;ECD01269;ECD01357;ECD01651;ECD04703;ECD05659;ECD06913;ECD12688;ECD14338;ECD19313;ECD20198;ECD21747;ECD23654;G15930;REN10653;REN10654;REN10655;REN10656;REN10657;REN10658;REN10659;REN10660;REN10661;REN10662;REN10663;REN10664;REN10665;REN10666;REN10667;REN10668;REN10669;REN10670;REN10671;REN10672;REN10673;REN10674;REN10675;REN10676;REN10677;REN10678;REN10679;REN10680;REN10681;REN10682;REN10683;REN10684;REN10685;REN10686;REN10687;REN10688;REN10689;REN10690;REN10691;REN10732;REN10735;REN10753;REN10755;REN10756;REN10757;REN10758;REN10759;REN10760;REN10764;REN10765;REN10767;RH123576;RH17905;RH71207;stSG619345;stSG619346;stSG619347;stSG619348;stSG619349;stSG619350;stSG619351;stSG619360;stSG619362 LEUPIN;PI11;SCCA-2;SCCA1;SCCA2 OTTHUMP00000066807;OTTHUMP00000066808;OTTHUMP00000066810;PI-11;SCCA2/SCCA1 fusion protein;peptidase inhibitor 11;protease inhibitor (leucine-serpin);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4;serpin B4;squamous cell carcinoma antigen 1;squamous cell carcinoma antigen 2 protein-coding ENSG00000206073 10570 02746 600518 VALIDATED 1320387 SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by well-conserved a tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-8 (PI8; SERPINB8) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010] 18 18 q22.1 59788243 59807588 + 61637263 61656608 + 1580863;6480464 8530382;19188865;19023099;17975119;17567994;16493485;12477932;12417609;9442015;9417904;9402754;9268635;8761950;15231068;22837378;20379614;2690952;17207965;20953187;22939629;21906983 5271 B4DTW2;C9JTJ8;C9JVA8;H7BXK7;P50452 ABBA01056230;AC009802;AK300391;AK313782;AL708543;AMYH01009057;BC034528;BE566411;BG611734;BQ435307;BX280409;BX571754;CA445967;CH471096;DC384755;DQ656055;L40377;NM_001031848;NM_001276490;NM_002640;NM_198833;U92984 AAC41939;AAH34528;ACE86686;ACE87370;ADQ31588;BAG36520;BAG62124;CAE11879;EAW63163;EAW63164;EAW63165;NP_001027018;NP_001263419;NP_002631;NP_942130;P50452 Hs.368077 1806474;1806900;1814374;1815018;1815984;1816574;1817624;1817948;1819270;1820624;1820810;1821220;1822922;1822998;1824592;1829480;1834574;1834834;1835220;1836424;1836768;1839544;1882764;1882766;1882768;1882770;1882772;1882774;1882776;1882778;1882780;1882782;1882784;1882786;1882788;1882790;1882792;1882794;1882796;1882798;1882800;1882802;1882804;1882806;1882808;1882810;1882812;1882814;1882816;1882818;1882820;1882822;1882824;1882826;1882828;1882830;1882832;1882834;1882836;1882838;1882840;1882842;1882844;1882846;1882848;1882850;1882852;1882854;1882856;1882858;1882860;1882862;1882864;1882866;1882868;1882870;1882872;1882874;1882876;1882878;1882880;1882882;1882884;1882886;1882888;1882890;1882892;1882894;1882896;1882898;1882900;1882902;1882904;1882906;1882908;1882910;1882912;1882914;1882916;1882918;1882920;1882922;1882924;1882926;1882928;1882930;1882932;1882934;1882936;1882938;1882940;2146058;2200354;2200356;2200358;2200360;2200362;2200364;2200366;2200368;2200370;2200372;2200374;2200376;2200378;2200380;2200382 ECD04193;ECD04415;ECD08216;ECD08540;ECD09032;ECD09329;ECD09864;ECD10029;ECD10702;ECD11387;ECD11480;ECD11687;ECD12549;ECD12587;ECD13394;ECD15871;ECD18435;ECD18566;ECD18765;ECD19374;ECD19548;ECD20954;REN12075;REN12076;REN12077;REN12078;REN12079;REN12080;REN12081;REN12082;REN12083;REN12084;REN12085;REN12086;REN12087;REN12088;REN12089;REN12090;REN12091;REN12092;REN12093;REN12094;REN12095;REN12096;REN12097;REN12098;REN12099;REN12100;REN12101;REN12102;REN12103;REN12104;REN12105;REN12106;REN12107;REN12108;REN12109;REN12110;REN12111;REN12112;REN12113;REN12114;REN12115;REN12116;REN12117;REN12118;REN12119;REN12120;REN12121;REN12122;REN12123;REN12124;REN12125;REN12126;REN12127;REN12128;REN12129;REN12130;REN12131;REN12132;REN12133;REN12134;REN12135;REN12136;REN12137;REN12138;REN12139;REN12140;REN12141;REN12142;REN12143;REN12144;REN12145;REN12146;REN12147;REN12148;REN12149;REN12150;REN12151;REN12152;REN12153;REN12154;REN12155;REN12156;REN12157;REN12158;REN12159;REN12160;REN12161;REN12162;REN12163;RH17652;stSG619578;stSG619579;stSG619580;stSG619581;stSG619582;stSG619583;stSG619584;stSG619585;stSG619586;stSG619587;stSG619588;stSG619589;stSG619590;stSG619591;stSG619592 CAP2;PI8 OTTHUMP00000067000;OTTHUMP00000067001;OTTHUMP00000067002;OTTHUMP00000180653;PI-8;cytoplasmic antiproteinase 2;peptidase inhibitor 8;protease inhibitor 8 (ovalbumin type);serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8;serpin B8 APPROVED protein-coding ENSG00000166401 8952 03412 601697 VALIDATED 736732 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 18 18 q21.33 59571257 59623584 + 61420281 61472610 + 1580863;6480464;70611;7207378;7207374;7207386;7207366;7207380;7207372 11473647;19690890;16443768;16782060;18793525;16796905;16550745 9710452;18498720;18471408;16431886;15788472;15489334;15342556;15213261;12477932;12397041;12386281;11527413;9182567;18580857;20628624;16344560;19403671 8710 A8K3Q8;C9JA68;C9JM00;O75635 ABBA01056227;ABBA01056228;AC069356;AC072051;AF027866;AK290673;AK290876;AK300828;AMYH01009057;BC069417;BC069442;BC069547;BC106743;BC106744;BP332064;BX641156;CD701612;CD702645;CH471096;D88575;DA577978;NM_001040147;NM_001261830;NM_001261831;NM_003784 AAC64506;AAH69417;AAH69442;AAH69547;AAI06744;AAI06745;BAA31232;BAF83362;BAF83565;BAG62480;CAE46069;EAW63159;NP_001035237;NP_001248759;NP_001248760;NP_003775;O75635 Hs.138202;Hs.742388 1725065;1731785;1801150;1801656;1802154;1802260;1803366;1803524;1803896;1804508;1805064;1805884;1805964;1806972;1807636;1807780;1808054;1808674;1809708;1809710;1810710;1812818;1813028;1813030;1813552;1815560;1815982;1817100;1817416;1818010;1818826;1819340;1819468;1821546;1821548;1824278;1824896;1829326;1830014;1831056;1834272;1834652;1834654;1835804;1837262;1837470;1840170;1840276;1841378;1842280;1843660;1844400;1845820;1845966;1880920;1880922;1880924;1880926;1880928;1880930;1880932;1880934;1880936;1880938;1880940;1880942;1880944;1880946;1880948;1880950;1880952;1880954;1880956;1880958;1880960;1880962;1880964;1880966;1880968;1880970;1880972;1880974;1880976;1880978;1880980;1880982;1880984;1880986;1880988;1880990;1880992;1880994;1880996;1880998;1881000;1881002;1881004;1881006;1881008;1881010;1881012;1881014;1881016;1881018;1881020;1881022;1881024;1881026;1881028;1881030;1881032;1881034;1881036;1881038;1881040;1881042;1881044;1881046;1881048;1881050;1881052;1881054;1881056;1881058;1881060;1881062;1881064;1881066;1881068;1881070;1881072;1881074;1881076;1881078;1881080;1881082;1881084;1881086;1881088;1881090;1881092;1881094;1881096;1881098;1881100;1881102;1881104;1881106;1881108;1881110;1881112;1881114;1881116;1881118;1881120;1881122;1881124;1881126;1881128;1881130;1881132;1881134;1881136;1881138;1881140;1881142;1881144;1881146;1881148;1881150;1881152;1881154;1881156;1881158;1881160;1881162;1881164;1881166;1881168;1881170;1881172;1881174;1881176;1881178;1881180;1881182;1881184;1881186;1881188;1881190;1881192;1881194;1881196;1881198;1881200;1881202;1881204;1881206;1881208;1881210;1881212;1881214;1881216;1881218;1881220;1881222;1881224;1881226;1881228;1881230;1881232;1881234;1881236;1881238;1881240;1881242;1881244;1881246;1881248;1881250;1881252;1881254;1881256;1881258;1881260;1881262;1881264;1881266;1881268;1881270;1881272;1881274;1881276;1881278;1881280;1881282;1881284;1881286;1881288;1881290;1881292;1881294;1881296;1881298;1881300;1881302;1881304;1881306;1881308;1881310;1881312;1881314;1881316;1881318;1881320;1881322;1881324;1881326;1881328;1881330;1881332;1881334;1881336;1881338;1881340;1881342;1881344;1881346;1881348;1881350;1881352;1881354;1881356;1881358;1881360;1881362;1881364;1881366;1881368;1881370;1881372;1881374;1881376;1881378;1881380;1881382;1881384;1881386;1881388;2125085;2200054;2200056;2200058;2200060;2200062;2200064;2200066;2200068;2200070;2200072;2200074;2200076;2200078;2200080;2200082;2200084;2200086;2200088;2200090;2200092;2200094;2200096;2200098;2200100;2200102;2200104;2200106;2200108;2200110;2200112;2200114;2200116;2200118;2200120;2200122;2200124;2200126 D18S14;D18S42;ECD01447;ECD01707;ECD01959;ECD02014;ECD02580;ECD02663;ECD02861;ECD03183;ECD03474;ECD03895;ECD03935;ECD04451;ECD04790;ECD04864;ECD05005;ECD05319;ECD05846;ECD05847;ECD06350;ECD07422;ECD07533;ECD07534;ECD07799;ECD08816;ECD09031;ECD09599;ECD09758;ECD10060;ECD10477;ECD10737;ECD10801;ECD11859;ECD11860;ECD13237;ECD13547;ECD15794;ECD16140;ECD16664;ECD18284;ECD18474;ECD18475;ECD19063;ECD19798;ECD19902;ECD21269;ECD21322;ECD21885;ECD22343;ECD23041;ECD23414;ECD24129;ECD24203;REN11151;REN11152;REN11153;REN11154;REN11155;REN11156;REN11157;REN11158;REN11159;REN11160;REN11161;REN11162;REN11163;REN11164;REN11165;REN11166;REN11167;REN11168;REN11169;REN11170;REN11171;REN11172;REN11173;REN11174;REN11175;REN11176;REN11177;REN11178;REN11179;REN11180;REN11181;REN11182;REN11183;REN11184;REN11185;REN11186;REN11187;REN11188;REN11189;REN11190;REN11191;REN11192;REN11193;REN11194;REN11195;REN11196;REN11197;REN11198;REN11199;REN11200;REN11201;REN11202;REN11203;REN11204;REN11205;REN11206;REN11207;REN11208;REN11209;REN11210;REN11211;REN11212;REN11213;REN11214;REN11215;REN11216;REN11217;REN11218;REN11219;REN11220;REN11221;REN11222;REN11223;REN11224;REN11225;REN11226;REN11227;REN11228;REN11229;REN11230;REN11231;REN11232;REN11233;REN11234;REN11235;REN11236;REN11237;REN11238;REN11239;REN11240;REN11241;REN11242;REN11243;REN11244;REN11245;REN11246;REN11247;REN11248;REN11249;REN11250;REN11251;REN11252;REN11253;REN11254;REN11255;REN11256;REN11257;REN11258;REN11259;REN11260;REN11261;REN11262;REN11263;REN11264;REN11265;REN11266;REN11267;REN11268;REN11269;REN11270;REN11271;REN11272;REN11273;REN11274;REN11275;REN11276;REN11277;REN11278;REN11279;REN11280;REN11281;REN11282;REN11283;REN11284;REN11285;REN11286;REN11287;REN11288;REN11289;REN11290;REN11291;REN11292;REN11293;REN11294;REN11295;REN11296;REN11297;REN11298;REN11299;REN11300;REN11301;REN11302;REN11303;REN11304;REN11305;REN11306;REN11307;REN11308;REN11309;REN11310;REN11311;REN11312;REN11313;REN11314;REN11315;REN11316;REN11317;REN11318;REN11319;REN11320;REN11321;REN11322;REN11323;REN11324;REN11325;REN11326;REN11327;REN11328;REN11329;REN11330;REN11331;REN11332;REN11333;REN11334;REN11335;REN11336;REN11337;REN11338;REN11339;REN11340;REN11341;REN11342;REN11343;REN11344;REN11345;REN11346;REN11347;REN11348;REN11349;REN11350;REN11351;REN11352;REN11353;REN11354;REN11355;REN11356;REN11357;REN11358;REN11359;REN11360;REN11361;REN11362;REN11363;REN11364;REN11365;REN11366;REN11367;REN11368;REN11369;REN11370;REN11371;REN11372;REN11373;REN11374;REN11375;REN11376;REN11377;REN11378;REN11379;REN11380;REN11381;REN11382;REN11383;REN11384;REN11385;RH118828;stSG619420;stSG619421;stSG619422;stSG619423;stSG619424;stSG619425;stSG619426;stSG619427;stSG619428;stSG619429;stSG619430;stSG619431;stSG619432;stSG619434;stSG619435;stSG619436;stSG619437;stSG619438;stSG619439;stSG619440;stSG619441;stSG619442;stSG619443;stSG619447;stSG619448;stSG619449;stSG619451;stSG619452;stSG619453;stSG619454;stSG619455;stSG619456;stSG619457;stSG619458;stSG619459;stSG619460;stSG619461 DKFZp686D06190;MEGSIN;MGC120014;MGC120015;TP55 OTTHUMP00000066995;OTTHUMP00000180650;TP55;mesangium predominant gene, megsin;serpin B7 protein-coding ENSG00000166396 13902 04524 603357 VALIDATED 2301110 SERPINE3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 13 13 13 q14.3 32964335 32985406 + 50813169 50834240 + 51915168 51936239 + 15057823 647174 A8MV23;E5RG55 ABBA01051048;AL137780;AM402969;AMYH01005116;AX772926;CH471075;NM_001101320 A8MV23;CAE06272;CAL47031;EAX08872;NP_001094790 Hs.685891 2114202 RH66764 OTTHUMP00000228212;OTTHUMP00000228214;nexin-related serine protease inhibitor;serpin E3 protein-coding ENSG00000253309 24774 VALIDATED 732320 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2008] 22 22 q11.21 19458383 19472008 + 21128383 21142008 + 1580300;1580301;1580303;1580304;1580863;6480464;6907045;7240710 12361205;8562924;10583218;8624776 14718574;18971786;18383370;16981704;16339402;16335952;15543340;15461802;15342556;15337701;15292227;15247982;12477932;12169660;12152684;12095635;11856753;11846800;11323006;10391209;8125298;7545318;3907702;3782093;3755044;3379101;3003690;2894851;2841345;2760054;2647747;2552799;2318847;2104620;1985958;1939083;1836773;1671335;19913121;20628086;19747479;20053992;20671370;21107326;21832049;22904320;19953087 3053 P05546;Q8IVC0 ABBA01015445;AC007308;AK225292;AK314200;AMYH01012538;BC035028;BP237845;CH471176;CR456573;M12849;M33660;M58600;NG_012076;NG_033052;NM_000185;X03498 AAA36185;AAA52641;AAA52642;AAH35028;ABM82129;ABM85312;BAG36878;CAA27218;CAG30459;CAK54603;CAK54902;EAX02941;EAX02942;NP_000176;P05546 Hs.474270 1686943;1769423;1857929;2128659;2169579 D22S1026;D22S1540;RH27825;STS-M12849;WI-7024 D22S673;HC2;HCF2;HCII;HLS2;LS2;THPH10 OTTHUMP00000198450;OTTHUMP00000198451;heparin cofactor 2;leuserpin 2;leuserpin-2;protease inhibitor leuserpin-2;serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1;serpin D1 APPROVED protein-coding ENSG00000099937 4838 00795 142360;612356 REVIEWED 1316583 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009] 1 1 q25.1 172139565 172153096 - 173872942 173886516 - 1580118;1580119;1580122;1599331;1599321;1599323;1599326;1599332;1599333;1599337;1599327;1599330;1580863;2312416;5147779;5147765;6480464;6484113;6907045;7240710 1685742;12595305;16141622;16095456;3162535;16732381;16457847;15995859;15792522;15220100;16440418;16124052;7974333;20519137;21396682 15853774;12878203;12907439;14718574;19277409;19229049;19004141;18954896;18923394;18761717;18550704;18208532;18056677;17849067;17597998;17492649;17413759;17244682;16973611;16940049;16908819;16796563;16705712;16542481;16335952;16263699;15978566;15733967;15630491;15630490;15338392;15164384;15140129;15084671;14760718;14652650;14532267;14347873;12894857;12695507;12556442;12477932;12466122;12369826;12353073;12193972;12138164;11927130;11861278;11854268;11794707;11754060;11713457;11686319;11686316;10997988;10974350;10809774;10361121;9845533;9761669;9759613;9428387;9405673;9157604;9067613;9031473;8889549;8664906;8486379;8476848;8443391;8274732;8236149;8087553;7994035;7989582;7981186;21264449;22424603;7959685;7878627;7832187;7749926;7656006;7599134;7238875;6833231;6693405;6672771;6636045;6582486;6572945;6305982;6298709;6096369;3979120;3805013;3800906;3605071;3472589;3360140;3191114;3179438;3169232;3162733;3080419;3055413;2998880;2991253;2917133;2794060;2781509;2615648;1808766;1602151;1555650;1551681;1547341;1483709;1421387;1325679;1315572;2602168;2544589;2365065;2229057;2126464;2093312;2013320;2012760;1998601;1977621;1932746;1906811;1873224;1873223;1868237;1695900;17474147;19423540;19631608;19715676;19760264;19762145;19843180;19861246;19924026;20024502;20406964;20438785;20452482;20088933;20224507;19913121;20628086;20673868;20683322;21044781;21240680;22627591;22918506;22958499;21795523;21316837;21655678;22234719;22318606;22398878;23416531;21885952;21569219;21569220;22353523;22116592;22498748;22997155;22481271 462 Q8TCE1;Q9UC78 AB083701;AB083703;AB083704;AB083707;ABBA01027895;AF130100;AF386078;AK312654;AL136170;AMYH01001505;BC022309;CH471067;CQ975467;D29832;H62671;H65301;H71210;HH713706;L00190;M21642;M21643;M21644;M21645;NG_012462;NM_000488;R84868;U11270;X00237;X00238;X03203;X03204;X68793 AAA19930;AAA51793;AAA51794;AAA51795;AAA51796;AAB40025;AAG35525;AAH22309;AAK60337;BAA06212;BAC21173;BAC21174;BAC21175;BAC21176;BAG35537;CAA25059;CAA25060;CAA26951;CAA26952;CAA48690;CAI45858;CBX54631;EAW90969;EAW90970;EAW90971;NP_000479;P01008 Hs.75599 1664605;1694948;1740945;1741015;1741115;1742447;1743961;1793944;2154751;2179198;5022578;5491400 D1S1423;G44373;GDB:176373;GDB:177376;GDB:177819;GDB:197001;GDB:379028;PMC310502P1;SERPINC1;SHGC-75923;SHGC-75924;SHGC-75926 AT3;AT3D;ATIII;MGC22579;THPH7 OTTHUMP00000035393;antithrombin III;antithrombin-III;serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1;serine-cysteine proteinase inhibitor clade C member 1;serpin C1 APPROVED protein-coding ENSG00000117601 775 00122 107300;613118 REVIEWED 1348161 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] 6 6 p25 2893392 2917089 - 2948393 2972399 - 1302731;1580863;6480464;6907045;7240710 8415716 18029348;19425502;17761692;16175637;15489334;14702039;14670919;12477932;12107413;11745444;10463585;9858835;9851866;8662739;8636153;8486644;8408007;8136380;7601482;7548163;20451170;16341674;22939629;18781797;21139048;21890473;21906983;21963094;19380743 5269 P35237 AB209563;ABBA01048622;AF116727;AK027149;AK057138;AK094983;AK098566;AK122895;AK122961;AK128637;AK314578;AL133351;AMYH01016028;BC001394;BC098564;BG499326;BI090002;BI259189;BI827451;BM789272;BX538343;CA847860;CD674931;CH471087;CX755337;CX782163;DA847833;HY169891;NG_027692;NM_001195291;NM_001271822;NM_001271823;NM_001271824;NM_001271825;NM_004568;Z22658 AAH01394;AAH98564;AAO15303;ABM86293;ABW03799;BAD92800;BAG37155;CAA80373;CAD98106;EAW55097;EAW55098;EAW55099;EAW55100;EAW55101;EAW55102;EAW55103;EAW55104;EAW55105;EAW55106;NP_001182220;NP_001258751;NP_001258752;NP_001258753;NP_001258754;NP_004559;P35237 Hs.519523;Hs.731506 1705920;2131646;2177468;2186996;5015879;5022578;5037552 D1S1423;D8S2279;GDB:314949;RH68324;RH71006;SGC35714;SHGC-78089 CAP;DFNB91;DKFZp686I04222;MGC111370;MSTP057;PI-6;PI6;PTI;SPI3 OTTHUMP00000017778;OTTHUMP00000017779;OTTHUMP00000017780;OTTHUMP00000017781;OTTHUMP00000017782;OTTHUMP00000017783;PI-6;cytoplasmic antiproteinase;deafness, autosomal recessive 91;peptidase inhibitor 6;placental thrombin inhibitor;protease inhibitor 6 (placental thrombin inhibitor);serpin B6 APPROVED protein-coding ENSG00000124570 8950 01413 173321;613453 REVIEWED 1318666 SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012] 6 6 p25 2832503 2848506 - 2887499 2903546 - 1580863;6480464;6907045 8910377;16130169;18669594;18191723;17479112;17077322;16310039;16306080;16267761;16169070;16144945;15531453;15494398;15489334;15458434;15146197;12517944;12477932;12036886;11856484;11719590;11485349;11207275;10681578;10477277;9858835;8530382;21319273;10790428;11463822;15739160;17237823;19956856;22167597;21795594;8938458;22090449;21139048;21906983;22387007;21296596;21919028 5272 P50453;Q6N0A8 AB060690;ABBA01048624;AK314842;AL133351;AMYH01016028;BC002538;BT006673;BX485378;BX640606;CH471087;CN255302;CR407627;L40378;NM_004155;U71364 AAC41940;AAC50793;AAH02538;AAP35319;ABM81700;ABM84860;BAB91078;BAG37360;CAE45712;CAG28555;EAW55093;EAW55094;EAW55095;NP_004146;P50453 Hs.104879 1684441;1701646;2165920;5014051;5015404;5015619;5022200;5022651;5024413;5037552 D11S2921;D11S3114;D8S2278;D8S2279;L17705;L17877;L18426;RH104467;RH48376;RH75915 CAP-3;CAP3;PI-9;PI9 OTTHUMP00000015954;PI-9;cytoplasmic antiproteinase 3;peptidase inhibitor 9;protease inhibitor 9 (ovalbumin type);serpin B9;serpin peptidase inhibitor, clade B, member 9 APPROVED protein-coding ENSG00000170542 8955 03480 601799 REVIEWED 1351755 SERPINH1P1 serpin peptidase inhibitor, clade H1, pseudogene 1 9 9 9 p13.3 34249790 34251855 + 34308194 34310515 + 34318264 34320329 + 737815 10023073 158172 AB010273;ABBA01065014;AL353662;AMYH01019335;NG_006020 1857685;2144788 A002P11;D11S4351 SERPINHP1;bA571F15.6;pshsp47 APPROVED pseudo 19917 INFERRED 70076 SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 2 2 q36.1 224548118 224612237 - 224839765 224904036 - 1580863;2317927;729767;2317936;2317937;6480464 18442833;12524238;8261109;2813392 23041623;19017876;18617644;18550614;17934860;17703087;17690329;17446335;17379830;16921128;16741952;16358219;16344560;16085935;16015279;15489334;15340161;12859287;12477932;12356769;12106474;11925594;11827452;8125298;8006028;7665170;3427015;1334458;9184208;3997857;2877744;19626039;19604412;19249338;19111454;22618708;20463177;20623540;20942929;20805453;1691280;1939253;19439404;19584287;19789190;19855083;19949669;20035713;20233420;20298363;2037625;20525719;3279057;20819545;21067581;21403095;22863883;23106098;21426587;21806836;19911255;21611750;21436250;22028159;22331468;22145704;19322201;20881960 5270 C9JN98;C9JRK5;C9K031;P07093 A03911;ABBA01023779;AC073641;AI754402;AJ293400;AK225823;AK295564;AK297588;AK312499;AMYH01011524;BC015663;BC042628;BX360097;BX647459;CH471063;CR746616;DB325994;DC304261;DC366668;M17783;NG_032907;NM_001136528;NM_001136530;NM_006216;NR_073116 AAA35883;AAH15663;AAH42628;AAY14926;ABM84117;ABM84610;ABM84611;ABM87515;ABM87861;ABM87862;BAG35401;BAG58464;BAG59975;CAA00310;EAW70821;EAW70822;EAW70823;EAW70824;NP_001130000;NP_001130002;NP_006207;P07093 Hs.38449;Hs.708453 1655515;1798146;2148369;2149859;2155581;2180355 D2S2574;G31099;RH16314;RH47841;SERPINE2_1428;SHGC-34895 DKFZp686A13110;GDN;GDNPF;PI-7;PI7;PN-1;PN1;PNI OTTHUMP00000164215;OTTHUMP00000203766;OTTHUMP00000203767;OTTHUMP00000203768;glia-derived nexin;glial-derived neurite promoting factor;peptidase inhibitor 7;protease nexin 1;protease nexin I;serine (or cysteine) proteinase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 2;serpin E2 APPROVED protein-coding ENSG00000135919 8951 01510 177010 REVIEWED 1315455 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 17 17 p13 1592880 1605309 + 1646130 1658559 + 1580302;1580303;1580304;1625535;1625530;1625532;1625537;1625538;1625531;1625536;1580863;1625529;1625533;1625534;6480464;6907045;7240710 12911586;10583218;8624776;1334334;12595617;9184412;6121140;10423332;9361364;2313941;15771120;9207984;1384011 21075;21707521;15853774;12878203;14687906;7306699;14718574;19073825;18550704;18048863;18029348;17961166;17890952;17883703;17388801;17317851;17203182;16828203;16335952;14751930;12621583;12549929;12477932;12080056;11604408;11074138;10963790;10958788;9428387;9368023;9169621;9042371;8889548;8703832;8647939;8611456;7873202;7095605;6980881;3818581;3416655;3334852;3166140;2958938;2830248;2572590;2456616;2440681;2437112;2434496;2433286;1577485;1385210;158022;134998;10570951;19492163;19913121;20628086;20705733;19691486;20071328;20112045;8484741;20553378;21471521;21505192;21251197;21486949;17958745;21543325;22205503;21988832;23022100;10671537 5345 C9JMH6;C9JPV4;P08697 ABBA01054672;ABBA01054673;ABBA01054674;AC130343;AK303763;AL564784;AMYH01008004;BC031592;BX107460;CH471108;CK300825;D00116;D00174;J02654;M20786;NG_013215;NM_000934;NM_001165920;NM_001165921 AAA35543;AAA51554;AAH31592;ABM81722;ABM84877;BAA00070;BAA00124;BAG64729;EAW90578;EAW90579;EAW90580;EAW90581;NP_000925;NP_001159392;NP_001159393;P08697 Hs.159509 1657134;1741011;2119567;2123762 D17S2100;GDB:177369;RH68851;STS-T52007 A2AP;AAP;ALPHA-2-PI;API;PLI OTTHUMP00000115656;OTTHUMP00000197008;OTTHUMP00000197009;alpha-2-AP;alpha-2-antiplasmin;alpha-2-plasmin inhibitor;serpin F2 APPROVED protein-coding ENSG00000167711 9075 02029 262850;613168 REVIEWED 1344082 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008] 11 11 q12.1 57121603 57138902 + 57365027 57382326 + 1302854;1600545;1580863;6480464;6907045;7240710 12773530;12402344 22456031;11527969;2365061;2563376;10946292;3965505;14718574;19344414;19201015;19169411;18842294;18758157;18586324;18535392;18035804;18022239;17976427;17916775;17908769;17709141;17521609;17502473;17498209;17488724;17230419;16617246;16470590;16409206;16335952;15971231;15879149;15607116;15596403;21526158;21345278;15596402;15583734;15489334;15356570;15325085;15096536;14760718;14635117;14568956;12754519;12539042;12492481;12477932;12421980;12123444;11933207;11460008;11437612;9882449;9234243;8755917;8529136;8172583;7883978;7814636;7749926;7586269;6980881;6604523;6416294;6282262;3756141;3587308;3488058;3458172;3393514;3295045;3267220;3178731;3089875;2723063;2478116;2323781;2296585;2154751;2118657;2026152;1885769;1684567;1531292;1451784;1363816;19423540;19607829;19706314;19752569;20016407;20024535;20062564;20120775;20161815;20237496;20306692;20406964;20438785;1339401;10570951;20351192;20606025;20532227;20576771;20628624;20736409;20800603;19925520;21695123;20804470;22831796;23123409;22276768;21864911;21623829;21852020;22230421;22014012;22001489;22078245;22456345;15174051;21988832;22882460;23251661;22994404;23583915 710 B4E1F0;B4E1H2;B5MCB9;C9JZJ9;E9KL26;E9PGN7;E9PK97;H0YCA1;H9KV48;Q96FE0 AB209826;ABBA01021474;AF435921;AK293054;AK303809;AK303840;AK312626;AL703442;AMYH01003652;AP000662;AP002893;AY732485;AY732486;AY904027;BC011171;BQ183346;BT006966;CH471076;GU727623;M13203;M13656;M13690;M14036;M30688;NG_009625;NM_000062;NM_001032295;S76944;X07427;X07577;X54486 AAA35613;AAA51848;AAA51849;AAA53096;AAB33044;AAB59387;AAH11171;AAM21515;AAP35612;AAV33124;AAV33125;AAW69393;ABM82725;ABM85908;ADU87625;BAD93063;BAF85743;BAG35512;BAG64762;BAG64784;CAA30314;CAA30469;CAA38358;EAW73762;EAW73763;EAW73764;NP_000053;NP_001027466;P05155 Hs.384598 1657289;1673224;1725767;1742499;1748469;2138107;2138671;2217956 C1NH;D11S3986;G62069;GDB:197595;RH11451;SERPING1_2664;SHGC-6014;STS-X54486 C1IN;C1INH;C1NH;HAE1;HAE2 C1 esterase inhibitor;C1-inhibiting factor;OTTHUMP00000197003;OTTHUMP00000197004;OTTHUMP00000197007;OTTHUMP00000235286;OTTHUMP00000235287;complement component 1 inhibitor;plasma protease C1 inhibitor;serine (or cysteine) proteinase inhibitor, clade g (c1 inhibitor), member 1, (angioedema, hereditary);serine/cysteine proteinase inhibitor clade G member 1;serpin G1;serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) APPROVED protein-coding ENSG00000149131 1228 06033 106100;120790;606860 REVIEWED 69014 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 7 7 q22.1 100557172 100569026 + 100770370 100782547 + 1580127;1580126;1580190;1580131;1580123;1624959;1580132;1580863;2316117;2316116;4143529;4144832;4143512;4143514;4143527;4143513;4144037;4144039;4144040;4143525;4144840;4144842;4144861;4144828;4144830;4144831;4144856;4144867;4144850;4144833;4144837;4144846;4144041;4144827;4144836;4144847;4143511;4144038;6480464;5147765;6484146;6484113;6907045;7175506;7240710 12669121;12777947;9484978;12960956;15322501;16855181;14653439;19587273;19706694;18337154;19063817;20110652;19855955;20300292;20061390;17667242;16284739;12730079;19387177;17032919;16224526;19574431;20429897;19753144;19703828;20554458;19010488;8981909;19604112;18330639;12765340;11929177;20508215;18594148;11450024;20473240;17207889;21396682;17651644;17469143 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5054 P05121 ABBA01011350;AC004876;AF386492;AI752990;AK293248;AK297728;AK298048;AK316225;AMYH01017750;BC005927;BC010860;BC020765;BF351821;C00767;CH471197;CN309001;CN309016;CN309038;GN348256;HI555467;J03764;M14083;M16006;M22313;M22314;M22315;M22316;M22317;M22318;M22319;M22320;M22321;NG_013213;NM_000602;NM_001165413;X04429;X04729;X04731;X04744;X12701;X13338;X13339;X13340;X13341;X13342;X13343;X13344;X13345 AAA60003;AAA60007;AAA60008;AAA60009;AAD45828;AAH10860;AAK60338;ABM81620;ABM84803;BAH11475;BAH12656;BAH12712;BAH14596;CAA28025;CAA28438;CAA28442;CAA28444;CAA31208;CAA31722;CAA31729;CAB51606;CAB51607;CAB51639;CAB51737;CAB51738;CAB51739;CAY56481;CBX47312;EAW50195;EAW50196;EAW50197;NP_000593;NP_001158885;P05121 Hs.414795;Hs.713079;Hs.741440 1338441;1662935;1665501;1669029;1742677;1742701;1774235;2129271;2132750;2139716;2141957;2161204;7187497 A008P30;D7S477;G10517;GDB:201753;GDB:201866;GDB:3755009;GDB:4585717;GDB:512828;PAI1;PLANH1;RH48262;STS-D29544 PAI;PAI-1;PAI1;PLANH1 OTTHUMP00000211478;endothelial plasminogen activator inhibitor;plasminogen activator inhibitor 1;serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;serpin E1 1643388;1643401 BMD1_H;BW321_H APPROVED protein-coding ENSG00000106366 8583 01418 173360;613329 REVIEWED 1342519 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 The protein encoded by this gene is a member of the serpin family, although it does not display the serine protease inhibitory activity shown by many of the other serpin family members. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells.[provided by RefSeq, Mar 2011] 17 17 p13.3 1612009 1627618 + 1665259 1680859 + 1580135;1580863;2312346;2312337;2312345;2312347;2312353;2312354;2312342;2312349;2312338;2312339;2312340;2312341;2312355;2312356;2312344;2312348;5490120;6480464 15059706;17658465;19365032;17971181;17491674;17073149;16863836;18322021;18996124;19237211;19073347;18715664;18455830;15313905;15312607;18025835;16054135;21487926 16797605;16777976;16740777;16707486;16596284;16409998;16335952;16896539;16322471;16289162;16196102;16102727;15994443;15856012;15846509;15713745;15489334;15377265;15374885;15239109;15150108;15140209;15096582;14991838;12920663;12878936;12860293;12837042;12827055;12711260;12687338;12670505;12621583;12603315;12599204;12477932;12237317;12200129;11438800;10531367;10398730;10398599;9692954;9238088;8977492;8889548;8434014;8188257;7592790;7566098;8473338;11562499;8226833;12737624;19637042;19513563;19503741;19342598;19253105;19247457;19224861;19223990;19182495;19180572;19091957;18845835;18805795;18792873;18787502;18787046;18677713;18676622;18523656;18312852;18226801;18191271;18180304;18084848;18029348;17870167;17651710;17604022;17593873;17525281;17479108;17213275;17202143;17188371;17081065;21058962;22051848;19913121;20628086;20678803;20705733;21067572;20685859;20229034;20381502;20631025;20664971;18625531;19583952;19608741;19635565;19661223;19948828;20087951;20104255;20132989;20141354;20228934;20412062;20504225;20709803;21152082;21122834;20857208;21209034;21281801;21059648;21174599;21851923;21947986;21353196;21236558;21275514;19298519;21323605;20237999;21211310;21697133;21673604;22837306;22930782;21652703;21330424;21570865;21846721;21697716;21826736;22115973;22457728;22457810;22028839;22215693;22884488;19953087;21139048;23393224;22029535;22120651;22218393;22315956;21777264;22113968;22792709;22547925;22570532;18704312;23055574;20706999;22827961;23038613;21336718;23547472;23075882;22819570;22915824;23346798;22234980;22669302 5176 I3L107;I3L1U4;I3L2R7;I3L3Z3;I3L425;I3L4F9;I3L4N7;I3L4Z0;P36955 AA351026;AA658568;AB593011;AB593012;AB593013;ABBA01054676;ABBA01054677;AC130343;AC130689;AF400442;AK315344;AMYH01008004;AY513280;BC000522;BC013984;BM981180;BQ773314;BT007222;BU154385;CA405781;CH471108;M76979;M90439;NG_028180;NM_002615;U29953;W22661 AAA60058;AAA84914;AAA93524;AAH00522;AAH13984;AAK92491;AAP35886;AAT08033;ADZ15741;BAJ83966;BAJ83967;BAJ83968;EAW90577;NP_002606;P36955 Hs.532768 1648678;1734472;1736700;5097051 D17S1434E;D17S1518E;G61999;SGC31677 EPC-1;OI12;OI6;PEDF;PIG35 OTTHUMP00000115682;cell proliferation-inducing gene 35 protein;pigment epithelium-derived factor;proliferation-inducing protein 35;serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1;serpin F1 APPROVED protein-coding ENSG00000132386 8824 01408 172860;613982 REVIEWED 1351903 SERTAD4 SERTA domain containing 4 1 1 1 q32.1-q41 183629578 183639844 + 208472818 208483083 + 210406195 210416460 + 737633;6480464 12477932 14702039;19156129;19322201 56256 Q9NUC0 ABBA01048203;AK096381;AK315386;AL035414;AMYH01001696;BC012083;CH471100;NM_019605 AAH12083;ABM84559;ABM86456;BAG37779;EAW93431;EAW93432;EAW93433;NP_062551;Q9NUC0 Hs.600545 1663731;1676097;1697548;2185248;2217964 RH102282;RH92965;SERTAD4_3610;SHGC-76284;SHGC-76290 DJ667H12.2 OTTHUMP00000034572;SERTA domain-containing protein 4 protein-coding 25236 15328 VALIDATED 732731 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] 11 11 q13.5 74950818 74961494 + 75273101 75283849 + 1580863;737815;6480464;7240710 10023073 7656593;1309665;15308636;19019335;18818748;18293509;18205191;18095990;18093617;16938879;16484215;16396496;16326708;16171977;15955241;15806139;15635413;15489334;15389525;15247019;15225209;15047128;14702039;12824005;12659832;12477932;12475206;12174873;12163502;12145293;12061838;11994473;11748222;11572868;11162551;11106745;11052465;10862616;10506936;10227388;9588174;9533029;9272875;16169070;20701077;11581402;17977830;19341245;19527514;19603022;20043075;20112500;19067716;16712791;18029348;19578754;20881960;22939629;17546044;21187648;11500849;23097496;21182205;22863883;22235129;22021425;19531213;22354994;22586326;18781797;21139048;21890473;21900206;21906983;21987572;22118674;19322201;23049894;21319273;21150319;21565611;21963094;22304920;22967132;23000965;23349634;21853274;22053931;22190034;22268729;22797925 871 A8K259;E9PIG2;E9PJH8;E9PK86;E9PKH2;E9PLA6;E9PMI5;E9PNX1;E9PPV6;E9PQ34;E9PR70;E9PRS3;H0YEP8;P50454 AB044778;AB044779;AB044780;AB044781;ABBA01017463;AI926019;AK075504;AK094047;AK122936;AK130870;AK131503;AK290124;AK297811;AK309905;AMYH01003817;AP001922;AP002815;AY264853;AY744367;BC014623;BC036298;BC070087;BQ016136;BT007094;CB123399;CH471076;D83174;DC398178;NG_012052;NM_001207014;NM_001235;X61598 AAH14623;AAH36298;AAH70087;AAP35758;AAP93914;AAU95378;BAA11829;BAA96788;BAA96789;BAA96790;BAA96791;BAF82813;BAG53805;BAG60149;CAA43795;EAW74974;EAW74975;EAW74976;EAW74977;EAW74978;EAW74979;NP_001193943;NP_001226;P50454 Hs.596449 1857685;2144786;2144788;2168656 A002P11;D11S4351;RH11786;STS-T11182 AsTP3;CBP1;CBP2;HSP47;OI10;PIG14;PPROM;RA-A47;SERPINH2;gp46 47 kDa heat shock protein;OTTHUMP00000229451;OTTHUMP00000229452;OTTHUMP00000229453;OTTHUMP00000229454;OTTHUMP00000229458;arsenic-transactivated protein 3;cell proliferation-inducing gene 14 protein;collagen-binding protein;colligin;colligin-1;colligin-2;proliferation-inducing gene 14;rheumatoid arthritis antigen A-47;rheumatoid arthritis-related antigen RA-A47;serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1);serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2);serine (or cysteine) proteinase inhibitor, clade h, member 1;serpin H1 APPROVED protein-coding ENSG00000149257 1546 02968 600943;610504;613848 REVIEWED 731505 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 3 3 q26.1 168936217 169026048 + 167453432 167543357 + 1580863;6480464;7240710 9070919;18029348;19265707;19222708;18591508;18391951;18051703;17961231;17606885;17212813;16849336;16344560;15664988;15489334;15291813;15269833;15090543;14983220;12477932;12354288;12228252;12103288;11880376;10992299;10517635;9407089;21487809;19423540;19423713;20406964;20438785;20691191;21174006;21081089;21507957;21569344;21961602;23534349 5274 C9JDY5;C9JQU8;H7C5T9;Q99574 ABBA01058725;AC026353;AC079822;AF248246;AK290082;AMYH01013636;BC018043;BQ086144;CH471052;CR627434;CS208019;DA270615;DA359846;HB867204;NG_008217;NM_001122752;NM_005025;Z81326 AAG01089;AAH18043;BAF82771;CAB03626;CAH10520;CAJ44935;CBF57588;EAW78571;EAW78572;EAW78573;NP_001116224;NP_005016;Q99574 Hs.478153 1725293;2115013;2184499 RH118964;SGC32223;STS-N47859 DKFZp781N13156;PI12;neuroserpin OTTHUMP00000212948;OTTHUMP00000212949;PI-12;neuroserpin;peptidase inhibitor 12;serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1;serpin I1 APPROVED protein-coding ENSG00000163536 8943 03901 602445;604218 REVIEWED 737028 SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2 The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] 3 3 3 q26.1 165558263 165590371 - 168642417 168674512 - 167159723 167191818 - 1580863;6480464 10097100;16713569;16189514;15489334;12477932;10992299;9624529;8125298;20453000;22110064;17668148;19641524;20967262 5276 B4DDY9;C9J7N5;C9JWE1;O75830 AB006423;ABBA01058730;AC107311;AF130470;AK226025;AK293391;AMYH01013636;BC027859;BX496933;CH471052;FY211025;FY212742;NM_001012303;NM_006217 AAD34723;AAH27859;BAA33766;BAG56900;EAW78587;NP_001012303;NP_006208;O75830 Hs.445555 1338242;1651941 D3S3673;G16564 MEPI;PANCPIN;PI14;TSA2004 OTTHUMP00000212687;OTTHUMP00000212688;OTTHUMP00000212689;PI-14;myoepithelium-derived serine protease inhibitor;pancreas-specific protein TSA2004;peptidase inhibitor 14;protease inhibitor 14;serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2;serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2;serpin I2 APPROVED protein-coding ENSG00000114204 8945 05722 605587 REVIEWED 1353244 SERTAD1 SERTA domain containing 1 19 19 q13.1-q13.2 45620248 45623772 - 40928408 40931932 - 1580863;6480464 6434876;16713569;16303743;16201750;16189514;18316374;15489334;15065884;14675634;12736710;12477932;11331592;10580009;8125298;16098148;19176394;20570897;17141982;20211142;21044367;21344158;21725208 29950 Q53GC0;Q9UHV2 AA928491;ABBA01040757;AC010271;AF117959;AF366402;AK074652;AK222970;AK223011;AMYH01009802;AY130860;BC002670;CH471126;CQ783536;CS072423;NM_013376 AAF08349;AAH02670;AAK52831;AAM77800;ABM83919;ABM87240;BAD96690;BAD96731;BAG51982;CAF86711;CAI93561;EAW56964;EAW56965;NP_037508;Q9UHV2 Hs.269898 2157307;2217958;5014039 D22S1584;SERTAD1_3583;STS-N31928 SEI1;TRIP-Br1 CDK4-binding protein p34SEI;CDK4-binding protein p34SEI1;SEI-1;SERTA domain-containing protein 1;transcriptional regulator interacting with the PHD-bromodomain 1 protein-coding 17932 15326 VALIDATED 1350169 SERTAD2 SERTA domain containing 2 2 2 2 p14 64704952 64727240 - 64712260 64734550 - 64858755 64881046 - 1580863;6480464 16098148;18316374;15815621;15489334;12477932;11331592;8590280;17141982;19152710;20379614;22589738;21139048;19322201;23291629 9792 Q14140 ABBA01075423;ABBA01075424;AC007365;AK311117;AMYH01010402;BC074788;BC074789;BC101639;BC101641;BQ017415;CH471053;D50917;NM_014755 AAH74788;AAH74789;AAI01640;AAI01642;AAY14766;ABZ92282;BAA09476;EAW99935;NP_055570;Q14140 Hs.591569 1646275;1667651;1689059;2217960 RH12683;RH25350;SERTAD2_3516;WI-11513 MGC126688;MGC126690;Sei-2;TRIP-Br2 OTTHUMP00000202194;SERTA domain-containing protein 2;transcriptional regulator interacting with the PHD-bromodomain 2;transcriptional regulator interacting with the PHS-bromodomain 2 protein-coding ENSG00000179833 30784 18040 VALIDATED 1602254 SERTAD4-AS1 SERTAD4 antisense RNA 1 1 1 1 q32.2 183628187 183630849 - 208471424 208474125 - 210404804 210407466 - 6480464 19240061;12477932 574036 Q5TG53 ABBA01048203;ABBA01048204;AL035414;AMYH01001696;BC066352;BC094794;BP422084;NR_024337 Q5TG53 Hs.446946 1697548 RH102282 C1orf133 APPROVED miscrna ENSG00000203706 32019 VALIDATED 1603398 SERTAD3 SERTA domain containing 3 The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 37746311 37749842 - 45638591 45642122 - 40946748 40950282 - 6480464 16189514;16098148;17260023;15489334;12477932;11331592;10982866;19060904;21906983 29946 M0QXL4;M0R352;Q9UJW9 ABBA01040759;AC010271;AF192529;AK074604;AMYH01009802;AW242302;BC014061;BC050643;CH471126;CQ783944;NM_013368;NM_203344 AAF05761;AAH14061;AAH50643;BAG51975;CAF86937;EAW56966;EAW56967;EAW56968;NP_037500;NP_976219;Q9UJW9 Hs.515412 1680172;1791452;2217962 PMC110737P1;RH92950;SERTAD3_3582 RBT1 RPA-binding trans-activator;SERTA domain-containing protein 3;replication protein-binding trans-activator APPROVED protein-coding ENSG00000167565 17931 15327 612125 REVIEWED 1601910 SERTM1 serine-rich and transmembrane domain containing 1 13 13 13 q13.3 18315266 18339185 + 36146049 36169976 + 37248049 37271976 + 12477932;12107410;20379614;17207965;21832049 400120 A2A2V5 ABBA01021355;ABBA01021356;AK294236;AL136160;AMYH01005038;BC036540;BI544475;CA392022;CH471075;DC425828;NM_203451 A2A2V5;AAH36540;ADQ32380;BAG57534;EAX08568;NP_982276 Hs.422375 1737337 D13S935 C13orf36;MGC33996;RP11-16L6.1 OTTHUMP00000178564;hypothetical protein LOC400120;serine-rich and transmembrane domain-containing 1;serine-rich and transmembrane domain-containing protein 1 APPROVED protein-coding ENSG00000180440 33792 14219 VALIDATED 1316757 SESN1 sestrin 1 This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] 6 6 q21 109414338 109521970 - 109307640 109415708 - 1580863;6480464;6907045 9926927;15105503;14702039;12607115;12477932;7938006;20800603;16751804;18692468;18703169;19704005;21067298;8889548;21890473;21906983;23274085 27244 Q9Y6P5 ABBA01026137;ABBA01026138;ABBA01026139;ABBA01026140;AF033120;AF033121;AF033122;AJ420599;AK001886;AK290157;AK290551;AL133559;AL355305;AL390208;AMYH01016581;BC112036;BC113569;BI549226;BU740021;CH471051;NG_029518;NM_001199933;NM_001199934;NM_014454 AAD04810;AAD04811;AAD04812;AAI12037;AAI13570;BAA91961;BAF82846;BAF83240;EAW48367;EAW48368;NP_001186862;NP_001186863;NP_055269;Q9Y6P5 Hs.591336 1646574;1661478;1681640;1697560;1858181;2117664;2144516;2177712;5094244 A007I12;G54662;RH102290;RH36549;RH37402;RH46062;RH46717;RH69830;RH75369 MGC138241;MGC142129;PA26;RP11-787I22.1;SEST1 OTTHUMP00000016951;OTTHUMP00000016952;OTTHUMP00000016953;p53 activated gene 26;p53 regulated PA26 nuclear protein;p53-regulated protein PA26;sestrin-1 APPROVED protein-coding ENSG00000080546 21595 07310 606103 REVIEWED 1349123 SESTD1 SEC14 and spectrin domains 1 2 2 2 q31.2 173560816 173723730 - 179681776 179764838 - 179966419 180129350 - 6480464 19240061;14702039;12837271;12477932;20164195;20379614;21903422;23509613 91404 B3KTX3;C9J4X8;C9JHW6;F8WFB2;H0Y774;H7BXT9;H7BZR8;Q86VW0 ABBA01062253;ABBA01062254;ABBA01062255;ABBA01062256;ABBA01062257;AC016755;AC093911;AK056075;AK057944;AK096232;AL122046;AMYH01011308;AMYH01011309;AY209190;BC029744;BC047578;BC053862;BC061918;CH471058;NM_178123 AAH29744;AAH47578;AAH53862;AAP47744;AAY24093;AAY24323;ACE86789;ACE87475;BAB71618;BAG53235;CAB59182;EAX11010;NP_835224;Q86VW0 Hs.30977 1647846;1661204;1665731;1671947;1849335;1850386;1856316;2118582;2167372;2184792;5093368 A009N12;G31511;G32678;RH17512;RH65909;RH69360;RH78358;RH78716;SHGC-36272;WI-14379;WI-14852 DKFZp434O0515;SOLO OTTHUMP00000206035;SEC14 domain and spectrin repeat-containing protein 1;huntingtin-interacting protein-like protein;protein Solo protein-coding ENSG00000187231 18379 11549 VALIDATED 1314725 SETBP1 SET binding protein 1 This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 18 18 18 q21.1 39067575 39456828 + 40535467 40898771 + 42260138 42648475 + 1580863;6480464;7240710 16582916;12168954;11231286;9455477;8889548;14718574;12477932;20379614;20436468;21076409;19913121;20628086;21037274;17549794;21371013;23443343;21832049;22333924;22693459;23222956 26040 K7ES17;Q9Y6X0 AB007897;AB022660;ABBA01022341;ABBA01022342;ABBA01022343;AC015954;AC021766;AC090376;AC105074;AC120049;AK123972;AL832945;AMYH01008967;AMYH01008968;AMYH01008969;BC062338;BC146776;BQ641251;CF143191;CH471088;NG_027527;NM_001130110;NM_015559 AAH62338;AAI46777;BAA24826;BAA82444;EAX01441;NP_001123582;NP_056374;Q9Y6X0 Hs.435458 1650359;1650576;1653238;1658760;1671171;1674525;1682906;1705600;1722091;1728201;1751969;1783720;1783746;1791262;2106597;2115460;2133316;2135421;2150538;2160759;2171866;2182591;2186253 A006F19;D18S1212;D18S1271;D18S1329;D18S861;G60087;G63523;MARC_9665-9666:996688503:1;RH16311;RH35832;RH46246;RH46559;RH47399;RH80518;SETBP1__5386;SHGC-105982;SHGC-154981;SHGC-156067;SHGC-34555;SHGC-35051;SHGC-83910;WI-14971;WI-17044 DKFZp666J1210;KIAA0437;SEB OTTHUMP00000163447;OTTHUMP00000209757;SET-binding protein APPROVED protein-coding ENSG00000152217 15573 10224 269150;611060 REVIEWED 1319828 SESN3 sestrin 3 This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 11 11 11 q21 92194063 92252174 - 94545781 94603894 - 94906133 94964246 - 1580863;6480464;6907045 15489334;14702039;12607115;12477932;17510393;19061837;22349704;22958918;20379614;20412774;21890473;19322201 143686 B7Z7P9;F5H1K7;P58005 ABBA01040017;AF086251;AF086504;AK096300;AK302366;AMYH01003965;AP000787;BC017296;CH471065;NM_001271594;NM_144665 AAH17296;BAC04754;BAH13685;EAW66959;EAW66960;NP_001258523;NP_653266;P58005 Hs.120633 1646230;1665797;1667353;1772160;1782252;1782256;1853487;1855916;1856430;2122461;2125977;2153125;2187186;5094028;5123714 A010B04;D11S2315E;D11S361;D11S4631;G33064;RH11849;RH18334;RH46209;RH47318;RH48984;RH68616;SGC34501;SHGC-111463;SHGC-111507;WI-16429 MGC29667;SEST3 OTTHUMP00000236979;OTTHUMP00000236986;sestrin-3 protein-coding 23060 09682 607768 REVIEWED 1346813 SESN2 sestrin 2 This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008] 1 1 1 p35.3 26981763 27004758 + 28458593 28481589 + 28585963 28609002 + 1580863;6480464;6907045 11256614;15489334;15105503;14702039;12607115;12477932;12203114;11230166;19113821;19377293;16344560;22749810;23274085;23383273;21536039;21139048;21418191;22363791;21988832;22450766 83667 P58004 ABBA01035018;AK025640;AK027896;AK315710;AL136551;AL353622;AMYH01000427;AY123223;AY538253;BC013304;BC033719;BI912024;CH471059;DB094914;NM_031459 AAH13304;AAH33719;AAM92261;ABM83753;ABM87072;ACE86501;ACE87182;BAB55438;BAG38070;CAB66486;EAX07703;NP_113647;P58004 Hs.469543 1733128;1778314;1853373;2118127;2122746;2142750;2149802 A001Z14;D1S1445;D1S1786E;D1S1788E;D1S2365;RH12617;SHGC-74473 DKFZp761M0212;DKFZp761M02121;HI95;SES2;SEST2 OTTHUMP00000003641;hypoxia induced gene 95;sestrin-2 APPROVED protein-coding ENSG00000130766 20746 06378 607767 REVIEWED 1602124 SETD1B SET domain containing 1B SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008] 12 12 12 q24.31 121878891 121906814 + 120726308 120754945 + 122242638 122270562 + 6480464;6907045 17355966;12477932;10470851;17998332;18838538;18029348;18680430;19433449;20516061;22939629;20305087;22927943;22266653;22665483 23067 Q9UPS6 AB028999;ABBA01020184;ABBA01020185;AC079360;AC084018;AK000810;AMYH01004818;BC047909;BC080192;JF813787;NM_015048 AEG67286;BAA83028;NP_055863;Q9UPS6 Hs.507122 1681269 RH79998 FLJ20803;KIAA1076;KMT2G;Set1B OTTHUMP00000240050;SET domain-containing protein 1B;hSET1B;histone-lysine N-methyltransferase SETD1B;lysine N-methyltransferase 2G APPROVED protein-coding ENSG00000139718 29187 611055 VALIDATED 1605414 SETD1A SET domain containing 1A SET1A is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. The complex is the analog of the S. cerevisiae Set1/COMPASS complex (Lee and Skalnik, 2005 [PubMed 16253997]). Also see SET1B (MIM 611055).[supplied by OMIM, Mar 2008] 16 16 16 p11.2 29301475 29329094 - 30876116 30903482 + 30968615 30995981 + 6480464;6907045 12670868;17500065;18838538;18765639;18082152;17998332;17578910;17081983;16253997;15489334;12477932;9205841;17846119;17355966;18680430;19433449;19951360;20819778;16061203;19454010;22939629;20516061;21988832;22902626;23306522;21653943;18029348;20305087;21139048;22147691;21252943;22266653;22665483 9739 C9J2Z9;O15047 AB002337;ABBA01042072;ABBA01042073;AC135048;AMYH01007501;BC027450;BC035795;NM_014712 AAH27450;AAH35795;BAA20797;NP_055527;O15047 Hs.297483 2132211 SHGC-57014 KIAA0339;KMT2F;Set1;Set1A OTTHUMP00000197439;SET domain-containing protein 1A;hSET1A;histone-lysine N-methyltransferase SETD1A;lysine N-methyltransferase 2F;set1/Ash2 histone methyltransferase complex subunit SET1 APPROVED protein-coding ENSG00000099381 29010 13795 611052 PROVISIONAL 1316679 SET SET nuclear oncogene The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 q34 130491682 130498488 + 131445934 131458675 + 1580863;6480464 14759373;14671643;14612398;12628186;12524539;12477932;12444089;12407107;12107410;11978794;11909973;11741927;11231286;11163245;11076863;11073993;11018049;9773788;9353299;8294483;8192856;8131851;8125298;17353931;15136563;11555662;8626647;7753797;1630450;19234487;19028839;18931446;18591933;18374643;18299449;18096310;17875674;17868381;17620317;17608644;17529993;17360516;17296573;17245428;17081983;17034827;17008916;16916647;16861234;16823850;16381901;16286244;16189514;16061203;15931263;15930275;15642345;15556635;15489336;15489334;15342556;15173575;15164053;15146197;23568457;23667531;23463506;19343227;20634891;18685082;20876349;21319273;22466417;17142970;20800572;22133779;22318606;16712791;16541025;17309103;17643375;18649364;18809386;19166587;19615732;19900756;15592452;16162853;16226712;16474839;16818237;17065150;19358706;21209461;21289314;10390352;10490631;15100215;15239126;21156847;22863883;22939629;19059912;23134341;21515671;21725597;21800051;21806989;20360068;21844565;15840729;18457437;21940793;22677993;21139048;21693764;21890473;21906983;21963094;22127260;18781797;20693670;21720744;21987572;19471022;21419339;22143534;21911363;19322201;21044950;23106910;19836239;16212417;19738201;20195357;21988832;23000965;23233674;22739068;23251465;22053931;22174317;22505724;22796192;23195690 6418 B2REB7;Q01105;Q5VXV3 ABBA01043894;ABBA01043895;ABBA01043896;AK223556;AK300609;AK300794;AK311346;AK315313;AL356481;AL359678;AMYH01021749;AMYH01021750;AMYH01021751;AY349172;BC014567;BC032749;BP343325;BQ774097;BU543146;CA392072;CA419540;CB129868;CH471090;CN408133;CR536543;CR542050;D45198;EF534308;JF729356;M93651;NG_030356;NM_001122821;NM_001248000;NM_001248001;NM_003011;U51924;X75091 AAA60318;AAC50460;AAH32749;AAQ79833;ABM85334;ABP96841;ABW03714;AEO27880;BAA08139;BAD97276;BAG37717;BAG62304;BAG62453;CAA52982;CAG38780;CAG46847;CAL37598;CAL37620;CAL37900;CAL38053;CAL38324;EAW87818;EAW87819;EAW87820;EAW87821;EAW87822;EAW87823;NP_001116293;NP_001234929;NP_001234930;NP_003002;Q01105 Hs.436687 1652448;1676916 RH69637;WI-7839 2PP2A;I2PP2A;IGAAD;IPP2A2;PHAPII;TAF-I;TAF-IBETA HLA-DR-associated protein II;I-2PP2A;OTTHUMP00000022285;OTTHUMP00000022286;OTTHUMP00000022287;OTTHUMP00000202056;SET translocation (myeloid leukemia-associated);Template-Activating Factor-I, chromatin remodelling factor;inhibitor of granzyme A-activated DNase;inhibitor-2 of protein phosphatase-2A;phosphatase 2A inhibitor I2PP2A;protein SET;protein phosphatase type 2A inhibitor;template-activating factor I APPROVED protein-coding ENSG00000119335 10760 09023 600960 REVIEWED 7152200 SETD5-AS1 SETD5 antisense RNA 1 3 p25.3 9430537 9439174 - 12477932;14702039 440944 Q6ZR93 ABBA01020411;AC018506;AK093640;AK128398;AL110136;AMYH01012963;BC036698;BC052961;BC132680;DB567546;NR_027007 BAC87421;Q6ZR93 Hs.598958;Hs.730098 1685968;2112756;2132918;2163447 D3S4445;RH93837;SGC31297;SHGC-64839 THUMPD3-AS1 miscrna 44478 VALIDATED 1602894 SETD2 SET domain containing 2 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008] 3 3 p21.31 47032910 47140744 - 47057898 47205467 - 6480464;6907133;6907137;6907045 22035299;21654818 19367581;19155214;19141475;18585004;17081983;16713569;16344560;16314571;16118227;15489334;15302935;14702039;12477932;11461154;11214970;11042152;10958656;9700202;20944102;19698110;20054297;20501857;18985028;19377461;21282530;21988832;23325844;23667531;21139048;19322201 29072 C9JG86;H7BXT4;H7BZ93;H7C3H4;Q6ZN53 AB051519;ABBA01024702;ABBA01024703;ABBA01024704;ABBA01024705;ABBA01024706;ABBA01024707;ABBA01024708;AC094020;AC127430;AF049103;AF049610;AF161554;AI671342;AJ238403;AK026125;AK026837;AK091413;AK095494;AK127782;AK128096;AK131371;AL049470;AL713692;AL831959;AL833394;AMYH01013140;AY576987;AY576988;BC072440;BC090954;BC117162;BC117164;BF437034;BX649110;CH471055;DA800082;NG_032091;NM_014159 AAC26194;AAC26846;AAF29041;AAH72440;AAH90954;AAI17163;AAI17165;AAT77612;AAT77613;BAB15367;BAB21823;BAC87131;BAD18522;CAC28349;CAD28492;CAD38601;CAH10589;EAW64805;EAW64806;EAW64807;EAW64808;EAW64809;EAW64810;EAW64811;NP_054878;Q9BYW2 Hs.517941 1654690;2112594;2112692;2168569;2174566;2184083;2219158;5015741;5021066 D20S994;D3S4066;D3S4358;D3S4406;G10736;HYPB__6622;RH45910;SHGC-34751;SHGC-76906 FLJ16420;FLJ22472;FLJ23184;FLJ45883;FLJ46217;HBP231;HIF-1;HIP-1;HSPC069;HYPB;KIAA1732;KMT3A;SET2;p231HBP HIP-1;OTTHUMP00000164782;SET domain-containing protein 2;hSET2;histone-lysine N-methyltransferase SETD2;huntingtin interacting protein 1;huntingtin yeast partner B;huntingtin-interacting protein 1;huntingtin-interacting protein B;lysine N-methyltransferase 3A APPROVED protein-coding ENSG00000181555 18420 11043 612778 REVIEWED 1319950 SETD3 SET domain containing 3 14 14 14 q32.2 79918981 80002111 - 98933836 99016979 - 99864083 99947226 - 6480464 18029348;16094384;15489334;14702039;12477932;11329013;21832049;22939629;21139048;22145905;19322201;21628590;21832073 84193 C9K0W5;Q6NXR6;Q9H5U5 ABBA01048559;ABBA01048560;AK026680;AK302882;AL110504;AL132819;AL359581;AMYH01005990;AMYH01005991;AMYH01005992;BC009054;BC037395;BC066931;BC120967;BC120968;BC127624;BC127625;BC142995;BC148251;BG194029;BX161441;BX161471;CB988965;CH471061;NM_032233;NM_199123 AAH09054;AAH66931;AAI20968;AAI20969;AAI27625;AAI27626;AAI42996;AAI48252;BAB15525;BAG64060;CAD61911;CAD61927;CAH56365;EAW81664;EAW81665;EAW81666;EAW81667;NP_115609;NP_954574;Q86TU7 Hs.510407 1651379;1679281;1798960;1799676;1799832;1800384;1800478;1801298;1804528;1805756;1806164;1807524;1807798;1809050;1809052;1809530;1809532;1812976;1813368;1813508;1813580;1819546;1822562;1822564;1824062;1824140;1824762;1826638;1830770;1839692;1841792;1847974;1849503;1955618;1955620;1955622;1955624;1955626;1955628;1955630;1955632;1955634;1955636;1955638;1955640;1955642;1955644;1955646;1955648;1955650;1955652;1955654;1955656;1955658;1955660;1955662;1955664;1955666;1955668;1955670;1955672;1955674;1955676;1955678;1955680;1955682;1955684;1955686;1955688;1955690;1955692;1955694;1955696;1955698;1955700;1955702;1955704;1955706;1955708;1955710;1955712;1955714;1955716;1955718;1955720;1955722;1955724;1955726;1955728;1955730;1955732;1955734;1955736;1955738;1955740;1955742;1955744;1955746;1955748;1955750;1955752;1955754;1955756;1955758;1955760;1955762;1955764;1955766;1955768;1955770;1955772;1955774;1955776;1955778;1955780;1955782;1955784;1955786;1955788;1955790;1955792;1955794;1955796;1955798;1955800;1955802;1955804;1955806;1955808;1955810;1955812;1955814;1955816;1955818;1955820;1955822;1955824;1955826;1955828;1955830;1955832;1955834;1955836;1955838;1955840;1955842;2122528;2133392;2212566;2212568;2212570;2212572;2212574;2212576;2212578;2212580;2212582;2212584;2212586;2212588;2212590;2212592;2212594 A006R32;ECD00322;ECD00692;ECD00770;ECD01052;ECD01099;ECD01521;ECD03193;ECD03829;ECD04036;ECD04734;ECD04874;ECD05512;ECD05513;ECD05757;ECD05758;ECD07502;ECD07705;ECD07775;ECD07813;ECD10840;ECD12369;ECD12370;ECD13127;ECD13166;ECD13479;ECD14433;ECD16521;ECD21029;ECD22095;G36029;REN48671;REN48672;REN48673;REN48674;REN48675;REN48676;REN48677;REN48678;REN48679;REN48680;REN48681;REN48682;REN48683;REN48684;REN48685;REN48686;REN48687;REN48688;REN48689;REN48690;REN48691;REN48692;REN48693;REN48694;REN48695;REN48696;REN48697;REN48698;REN48699;REN48700;REN48701;REN48702;REN48703;REN48704;REN48705;REN48706;REN48707;REN48708;REN48709;REN48710;REN48711;REN48712;REN48713;REN48714;REN48715;REN48716;REN48717;REN48718;REN48719;REN48720;REN48721;REN48722;REN48723;REN48724;REN48725;REN48726;REN48727;REN48728;REN48729;REN48730;REN48731;REN48732;REN48733;REN48734;REN48735;REN48736;REN48737;REN48738;REN48739;REN48740;REN48741;REN48742;REN48743;REN48744;REN48745;REN48746;REN48747;REN48748;REN48749;REN48750;REN48751;REN48752;REN48753;REN48754;REN48755;REN48756;REN48757;REN48758;REN48759;REN48760;REN48761;REN48762;REN48763;REN48764;REN48765;REN48766;REN48767;REN48768;REN48769;REN48770;REN48771;REN48772;REN48773;REN48774;REN48775;REN48776;REN48777;REN48778;REN48779;REN48780;REN48781;REN48782;REN48783;RH68701;RH78765;SHGC-30385;SHGC-35053;stSG632255;stSG632257;stSG632258;stSG632259;stSG632260;stSG632261;stSG632262;stSG632263;stSG632264;stSG632265;stSG632266;stSG632267;stSG632269;stSG632270;stSG632271 C14orf154;DKFZp761E1415;FLJ23027;MGC87236 OTTHUMP00000028053;OTTHUMP00000067230;OTTHUMP00000067231;SET domain-containing protein 3;histone-lysine N-methyltransferase setd3 protein-coding ENSG00000183576 20493 08664 VALIDATED 1605381 SETD5 SET domain containing 5 3 3 3 p25.3 9374104 9454540 + 9414403 9494838 + 9439403 9519838 + 6480464 16641997;15489334;14702039;12477932;11214970;16189514 55209 C9JLA7;C9JLM1;E7EWN3;F2Z2J0;F8WD12;H0Y3R4;H7C1F2;H7C1Q2;Q9C0A6 AB051544;ABBA01020411;AC018506;AK001569;AK024384;AK025478;AK091393;AK092046;AK094975;AK127298;AK289529;AL442073;AMYH01012963;AMYH01012964;BC012558;BC020956;BX648380;CH471055;CR627408;NM_001080517 AAH20956;BAA91762;BAB14903;BAB15144;BAB21848;BAF82218;BAG52348;BAG54476;CAC09439;CAH10497;CAH10552;EAW63962;NP_001073986;Q9C0A6 Hs.288164 1658541;2131169;2132918;2147664;2159860;2177579;2188351;2188353;5015861;7185938 D10S16;G66213;G66214;RH12737;RH46923;SGC31297;SHGC-76684;SHGC-76694;WI-16427 DKFZp686J18276;FLJ10707;KIAA1757 OTTHUMP00000197546;OTTHUMP00000197548;OTTHUMP00000197549;SET domain-containing protein 5 protein-coding ENSG00000168137 25566 PROVISIONAL 1353006 SETD4 SET domain containing 4 21 21 21 q22.13 22605727 22631704 - 36328709 36358576 - 37406839 37432819 - 6480464 15489334;14759258;14702039;12477932;11707072;10830953;9740676;21890473;21906983;23251661 54093 A8MTS1;C9J256;C9JIU9;C9JPA1;C9JWV5;C9JYV0;Q9NVD3 AB004848;AB004849;AB004852;AB004853;ABBA01057382;AF391112;AI636385;AK001660;AK095215;AK124254;AK126368;AK300009;AMYH01012223;AP000688;BC002898;BC036556;BF195582;CH471079;DC368543;NM_001007259;NM_017438;NR_040086;NR_040087;NR_040088 AAH02898;AAH36556;AAL34503;ABZ92338;BAA89424;BAA91819;BAG61826;EAX09756;EAX09757;EAX09758;EAX09759;EAX09760;EAX09761;EAX09762;NP_001007260;NP_059134;Q9NVD3 Hs.606200 1657473;1661892;1699562;2135975;5020946;5037552 D8S2279;L17971;RH103382;SHGC-13275;SHGC-87609;SHGC-87620 C21orf18;C21orf27 OTTHUMP00000108887;OTTHUMP00000108888;OTTHUMP00000108889;OTTHUMP00000108890;OTTHUMP00000108891;OTTHUMP00000108892;OTTHUMP00000108894;OTTHUMP00000108895;OTTHUMP00000108897;SET domain-containing protein 4 protein-coding ENSG00000185917 1258 10743 VALIDATED 1605343 SETD6 SET domain containing 6 16 16 16 q21 43048356 43053420 + 57106928 57111067 + 58549383 58554431 + 6480464 16344560;15489334;15342556;14702039;12477932;19416867;21131967;21139048;21515635;21906983 79918 C9JCR1;E9PC53;H7C3N0;J3QT10;Q8TBK2 ABBA01025307;AC009118;AK024801;AK127136;AK290495;AK297288;AK304822;AK309468;AMYH01007713;BC022451;BC110433;BP338820;CH471092;DA074170;GD152628;NM_001160305;NM_024860 AAH22451;BAB15011;BAC86845;BAF83184;BAG59758;BAG65570;EAW82980;EAW82981;NP_001153777;NP_079136;Q8TBK2 Hs.731691 1655264;1694664;1848952;2115407;2120462;2147595;2151479;2184689;5022450 A002K05;D10S275;D16S2562E;D16S2941;D16S3186;G43512;RH35951;RH41889;SHGC-61172 FLJ21148 N-lysine methyltransferase SETD6;OTTHUMP00000196840;OTTHUMP00000196841;OTTHUMP00000196842;OTTHUMP00000196844;OTTHUMP00000196846;SET domain-containing protein 6 protein-coding ENSG00000103037 26116 07956 VALIDATED 1641963 SETD8P1 SET domain containing 8 pseudogene 1 13 q11-q13 122812956 122815641 + 12477932;12208845;12086618;9847074 57108 ABBA01016828;AC005283;AL356585;NG_003193 1684030 RH70202 SET07p;SET7 pseudo 30088 INFERRED 1602299 SETD9 SET domain containing 9 5 5 5 q11.2 53159295 53175568 + 56240857 56248767 + 56205087 56221359 + 6480464 12477932;20930037;19322201 133383 C9J935;F8WBJ9;Q8NE22 ABBA01015768;AC008937;AK309152;AMYH01015098;BC036528;BG719045;CH471123;NM_001171990;NM_153706 AAH36528;ADZ15888;EAW54956;EAW54957;EAW54958;NP_001165461;NP_714917;Q8NE22 Hs.85950 1699934;1701016;1800116;1800676;1800954;1800994;1801890;1801950;1807654;1808686;1812680;1812776;1816580;1816860;1833646;1834694;1839050;1839974;1844114;1915202;1915204;1915206;1915208;1915210;1915212;1915214;1915216;1915218;1915220;1915222;1915224;1915226;1915228;1915230;1915232;1915234;1915236;1915238;1915240;1915242;1915244;1915246;1915248;1915250;1915252;1915254;1915256;1915258;1915260;1915262;1915264;1915266;1915268;1915270;1915272;1915274;1915276;1915278;1915280;1915282;1915284;1915286;1915288;1915290;1915292;1915294;1915296;1915298;1915300;1915302;1915304;1915306;1915308;1915310;1915312;1915314;1915316;1915318;1915320;1915322;1915324;1915326;1915328;1915330;1915332;1915334;1915336;1915338;1915340;1915342;1915344;1915346;1915348;1915350;1915352;1915354;1915356;1915358;1915360;1915362;1915364;2205936;2205938;2205940;2205942;2205944;2205946;2205948;2205950;2205952 ECD00914;ECD01199;ECD01342;ECD01363;ECD01826;ECD01856;ECD04799;ECD05325;ECD07351;ECD07399;ECD09332;ECD09476;ECD17968;ECD18495;ECD20704;ECD21171;ECD23270;REN28411;REN28412;REN28413;REN28414;REN28415;REN28416;REN28417;REN28418;REN28419;REN28420;REN28421;REN28422;REN28423;REN28424;REN28425;REN28426;REN28427;REN28428;REN28429;REN28430;REN28431;REN28432;REN28433;REN28434;REN28435;REN28436;REN28437;REN28438;REN28439;REN28440;REN28441;REN28442;REN28443;REN28444;REN28445;REN28446;REN28447;REN28448;REN28449;REN28450;REN28451;REN28452;REN28453;REN28454;REN28455;REN28456;REN28457;REN28458;REN28459;REN28460;REN28461;REN28462;REN28463;REN28464;REN28465;REN28466;REN28467;REN28468;REN28469;REN28470;REN28471;REN28472;REN28473;REN28474;REN28475;REN28476;REN28477;REN28478;REN28479;REN28480;REN28481;REN28482;REN28483;REN28484;REN28485;REN28486;REN28487;REN28488;REN28489;REN28490;REN28491;REN28492;RH103575;RH104135;stSG625169;stSG625171;stSG625172;stSG625173;stSG625174;stSG625175;stSG625176;stSG625177;stSG625178 C5orf35;MGC33648 OTTHUMP00000065817;SET domain-containing protein 9;hypothetical protein LOC133383;uncharacterized protein C5orf35 APPROVED protein-coding ENSG00000155542 28508 14572 VALIDATED 6480410 SETP10 SET pseudogene 10 1 q25.2 179153087 179153827 + 100287822 ABBA01027823;AL512326;AMYH01001529;NG_022819;NG_028242 pseudo 42929 INFERRED 6480407 SETP11 SET pseudogene 11 3 150987226 150987919 + 100419187 ABBA01058911;AC078816;AMYH01013580;NG_025756 1337856 D3S3625 pseudo 42930 INFERRED 6482156 SETP13 SET pseudogene 13 100873167 AC005666;NG_032538 pseudo 42932 INFERRED 5684150 SETP12 SET pseudogene 12 4 121817273 121817804 - 100419158 ABBA01044721;AC104068;AMYH01014490;NG_025157;NG_031862 1762257 SHGC-146118 pseudo 42931 INFERRED 6482538 SETP14 SET pseudogene 14 3 q25.31 155705042 155706847 + 15670842;16195249 389168 ABBA01058845;AC067721;AMYH01013597;NG_017152 pseudo 42933 INFERRED 1606498 SETD7 SET domain containing (lysine methyltransferase) 7 4 4 q28 140646642 140697027 - 140427192 140477577 - 2316155;6480464;6484113;6907045;7242554 19450511;22194015 19262565;17166833;22242964;16415881;12514135;19351588;19282482;18474616;18471979;18650421;17646389;17573780;15525938;15489334;15099517;12670868;12540855;12477932;12389038;12372304;11850410;11779497;11214970;19864627;20675860;18408754;19247474;19752191;20227666;20379614;22820736;17108971;21273441;21098664;21245319;20603083;21454678;22939629;21115810;21151116;21320024;21859860;22836579;21896933;21139048;22403242;21131967;22406368;21988832;23509280;20227660;20615470;17707234 80854 B5MCS2;B5MCZ8;D6RJA0;Q8WTS6 AB051504;ABBA01069962;ABBA01069963;AC112236;AC114743;AF448510;AF462150;AK024846;AK310856;AMYH01014571;BC012784;BC040990;BC066361;BC110904;BC121055;BC121056;BM922680;CH471056;NM_030648 AAI21056;AAI21057;AAL56579;AAL69901;AAY40937;BAB21808;EAX05114;NP_085151;Q8WTS6 Hs.480792 1652466;1653454;1655741;1771456;2124204;2160744;2165089 1976;D4S2472E;D4S2475E;D4S3221;G33847;G41977;SHGC-67728 FLJ21193;KIAA1717;KMT7;SET7;SET7/9;SET9 H3-K4-HMTase SETD7;OTTHUMP00000164543;OTTHUMP00000220049;SET domain-containing protein 7;histone H3-K4 methyltransferase SETD7;histone H3-lysine 4-specific methyltransferase;histone-lysine N-methyltransferase SETD7;lysine N-methyltransferase 7 protein-coding ENSG00000145391 30412 16226 606594 VALIDATED 6480413 SETP17 SET pseudogene 17 11 q14.2 86005830 86006620 + 100130043 ABBA01017323;AMYH01003851;AP001148;AP003084;NG_021827 1726991 G62893 pseudo 42936 INFERRED 5684431 SETP15 SET pseudogene 15 X 15935671 15935969 + 100856877 ABBA01071365;AC004106;AMYH01022110;NG_031903 pseudo 42934 INFERRED 6480422 SETP16 SET pseudogene 16 11 q23.3 118704506 118705274 - 649925 ABBA01039693;AMYH01004076;AP004609;NG_021806 pseudo 42935 INFERRED 5508281 SETP19 SET pseudogene 19 14 14 q11.2 20066109 20066959 - 20996269 20997119 - 100133314 AL163195;NG_030238 pseudo 42938 INFERRED 1343389 SETP2 SET pseudogene 2 14 14 14 q22.1 31769618 31772959 + 50972518 50975878 + 51902687 51906031 + 326277 ABBA01018154;AL358332;AMYH01005726;NG_002537 pseudo 20032 INFERRED 6480423 SETP18 SET pseudogene 18 1 p22.1 92540093 92540968 - 22863883;22354994 646817 ABBA01045554;AC104836;AMYH01000794;NG_022728 pseudo 42937 INFERRED 6480424 SETP22 SET pseudogene 22 5 q15 96390387 96393125 - 642737 ABBA01069224;AC008865;AC008905;AMYH01015491;NG_017145 pseudo 42941 INFERRED 5684430 SETP21 SET pseudogene 21 5 59755679 59756566 - 100856878 ABBA01015801;AC109486;AMYH01015107;NG_031904 pseudo 42940 INFERRED 5686951 SETP3 SET pseudogene 3 17 q23.2 56553552 56554313 - 619349 ABBA01041337;AC005666;AMYH01008513;NG_032022 pseudo 31115 INFERRED 6480416 SETP5 SET pseudogene 5 9 q34.3 140535463 140536024 - 100130014 ABBA01022782;AL590627;AMYH01021915;NG_011776;NG_021638 pseudo 42924 INFERRED 6480406 SETP6 SET pseudogene 6 3 81661389 81661956 - 100419178 ABBA01031052;AC017015;AMYH01013306;NG_025596 pseudo 42925 INFERRED 6482157 SETP7 SET pseudogene 7 12 107665162 107665620 + 100873166 ABBA01053160;AC007649;AMYH01004726;NG_032537 pseudo 42926 INFERRED 6480417 SETP8 SET pseudogene 8 X q23 116097017 116097644 + 100128536 ABBA01036956;AL732604;AMYH01022871;NG_022693 pseudo 42927 INFERRED 6480415 SETP9 SET pseudogene 9 1 q23.3 160639941 160640771 + 100129738 ABBA01016612;AL121985;AMYH01001453;NG_022811 pseudo 42928 INFERRED 5490945 SETP20 SET pseudogene 20 4 4 q25 110693848 110695664 - 110474402 110475250 - 9847074;21906983 389217 ABBA01063777;AC105314;AMYH01014457;NG_029996 pseudo 42939 INFERRED 1602807 SETD8 SET domain containing (lysine methyltransferase) 8 12 12 q24.31 122434657 122459853 + 123868704 123893900 + 6480464;6484113;6907045;7242554 22194015 15933069;18480059;18418072;18408754;18319261;18166648;17707234;15964846;15933070;15489334;12540855;12477932;12411495;12208845;12121615;12086618;8980232;21282610;20870725;20953199;21035370;17207965;20932471;20932472;18474616;18512960;19789321;23152447;12351676;21220508;21983900;21200139;21139048;21906983;21963094;20966048;21829513;23478445;22556262;19322201;22867998;22583696;22095217;23291132;23455924;23703321;22505724 387893 C9JKQ0;F8WC45;Q9NQR1 ABBA01060416;ABBA01060417;AC137767;AC145423;AF287261;AK292645;AMYH01004837;AMYH01004838;AY064546;AY102937;BC050346;BQ773996;CH471054;HQ259683;NM_020382 AAF97812;AAH50346;AAL40879;AAM47033;ADP08984;ADQ32515;BAF85334;EAW98406;EAW98407;EAW98408;EAW98409;NP_065115;Q9NQR1 Hs.443735;Hs.572262 1684030;1698832 RH102980;RH70202 KMT5A;PR-Set7;SET07;SET8 H4-K20-HMTase SETD8;H4-K20-specific histone methyltransferase;H4K20-specific histone methyltransferase splice variant Set8b;N-lysine methyltransferase SETD8;OTTHUMP00000197452;OTTHUMP00000197454;PR/SET domain containing protein 8;PR/SET domain-containing protein 07;PR/SET07;SET domain-containing protein 8;histone-lysine N-methyltransferase SETD8;lysine N-methyltransferase 5A protein-coding ENSG00000183955 29489 06254 607240 VALIDATED 1321179 SETDB2 SET domain, bifurcated 2 Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 [PubMed 12754510]).[supplied by OMIM, Mar 2008] 13 13 13 q14 31073381 31124092 + 48916511 48964299 + 50018429 50069139 + 1580863;6480464;6907045 16344560;15489334;15057823;12754510;12477932;11306461;20085599;20404330;18498648;22797925 83852 Q8NDJ9;Q96T68 AB209349;ABBA01051016;ABBA01051017;AF086317;AF277186;AF334407;AK307593;AK308220;AK308354;AK311602;AL136218;AL139321;AL831937;AL833957;AMYH01005108;AW297242;BC017078;BC028202;BC047434;CH471075;DB164537;NM_001160308;NM_031915 AAH17078;AAH47434;AAK38373;BAD92586;CAD38807;CAH56265;EAX08824;EAX08825;EAX08826;NP_001153780;NP_114121;Q96T68 Hs.631789 1690218;1858208;2140976;2150129;5016781 RH48846;RH69241;RH93583;SHGC-67307;STS-AA039375 C13orf4;CLLD8;CLLL8;DKFZp586I0123;DKFZp761J1217;KMT1F OTTHUMP00000018417;OTTHUMP00000018418;chronic lymphocytic leukemia deletion region 8;chronic lymphocytic leukemia deletion region gene 8 protein;histone-lysine N-methyltransferase SETDB2;lysine N-methyltransferase 1F APPROVED protein-coding ENSG00000136169 20263 09712 607865 VALIDATED 6480304 SETP4 SET pseudogene 4 X q21.1 84010006 84011485 + 11181995;12477932 642869 AMYH01022660;BC015351;CH471104;NG_017144;Z95126 EAW98571 Hs.648339 pseudo 42923 INFERRED 1354478 SF Stoltzfus blood group 7240710 5365757;6948764 6420 10764 145250;611664 1348585 SETMAR SET domain and mariner transposase fusion gene This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 p26.1 4320016 4333949 + 4344988 4358949 + 6480464;6907045 9461395;18790802;18263876;17877369;17403897;17130240;16989604;16672366;16332963;15489334;12477932;9110174;8619474;8125298;7670491;16169070;19458360;20416268;20457750;18773976;20800603;18498648;21187428;21124928;21491884;19390626;22231448 6419 B4DY74;B9ZVV8;C9JHK2;E7EN68;F8WB33;F8WEU1;Q53H47 ABBA01020470;AC023483;AC034191;AF054989;AK222734;AK297865;AK302296;AK307537;AK311418;AMYH01012948;AY952295;BC008931;BC011635;BG479260;CH471055;DC357038;DQ341316;NM_001243723;NM_001276325;NM_006515;NR_024022;NR_075073;U52077;U80776 AAC09350;AAC52010;AAC52012;AAH08931;AAH11635;AAY29570;ABC72087;BAD96454;BAG60194;BAG63636;EAW63903;EAW63904;EAW63905;NP_001230652;NP_001263254;NP_006506;Q53H47 Hs.475300 1696314 SHGC-77734 HsMar1;METNASE;Mar1 OTTHUMP00000115296;OTTHUMP00000207093;SET domain and mariner transposase fusion gene-containing protein;histone-lysine N-methyltransferase SETMAR;hsMar1 protein-coding ENSG00000170364 10762 10225 609834 REVIEWED 1320435 SEZ6 seizure related 6 homolog (mouse) 17 17 17 q11.2 24141317 24192463 - 24306049 24357207 - 27281923 27333081 - 724667;6480464 7723619 17086543;16344560;14702039;12477932;12351182;8125298;7488116;16169070;21900206 124925 C9JFF1;H0YF95;H0YFT6;H0YFX0;H0YGK0;K7ELJ4;Q53EL9 ABBA01015034;ABBA01015035;ABBA01015036;AC024267;AC024619;AF502129;AF502130;AK054913;AK055383;AK091522;AK096473;AK125377;AK223620;AL834405;AMYH01008285;AY038048;BC069260;CH471159;DA123986;NM_001098635;NM_178860 AAI46293;AAK71497;AAM22213;AAM22214;BAB70826;BAB70912;BAC03684;BAD97340;CAD39067;EAW51170;EAW51171;EAW51172;EAW51173;EAW51174;NP_001092105;NP_849191;Q53EL9 Hs.21837 1339128;1678789;1687732;1695856;1758937;2106599;5019641;5127897 D17S925;G32307;RH12427;RH66983;SEZ6__5387;SHGC-151098;SHGC-152086;SHGC-78803 OTTHUMP00000237561;OTTHUMP00000237562;OTTHUMP00000237567;OTTHUMP00000237570;SEZ-6;hSEZ-6;seizure protein 6 homolog protein-coding ENSG00000063015 15955 18041 VALIDATED 1318101 SETDB1 SET domain, bifurcated 1 This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011] 1 1 q21 149165512 149203837 + 150898815 150937220 + 1580863;1359072;6480464;6484113;6907045 11959841 11791185;16682412;17577629;19124506;18498648;17142323;17066076;16713569;16344560;16169070;16097034;15899859;15691849;15489334;15383276;15327775;15231748;14702039;14536086;12869583;12477932;12421765;12398767;10343109;7584044;16710414;16567619;18082607;17952062;21430779;14611647;18029348;19498464;19884257;20936779;20383146;18501190;19061646;19394292;11252719;21170338;20331966;21243721;21252943;18781797;21900206;21983785;19471022;21139048;21693764;21890473;22110129;21921037;21963094;21988832;22939624;23055267 9869 B0QZE6;E9PAP1;E9PQM8;E9PRF4;E9PS59;Q15047 ABBA01049361;ABBA01049362;ABBA01049363;AI582266;AK095075;AK302461;AK308335;AL590133;AMYH01001385;BC009362;BC028671;CH471121;D31891;DA418593;DB062762;HC290201;HC290203;NM_001145415;NM_001243491;NM_012432 AAH09362;AAH28671;BAA06689;BAG63752;CBJ06473;CBJ06474;EAW53503;EAW53504;EAW53505;EAW53506;EAW53507;EAW53508;NP_001138887;NP_001230420;NP_036564;Q15047 Hs.643565 1654912;1664719;2108459;2131159;2156559;2157167;2176544;5037552 Cda0kh05;D1S2372;D1S3444;D8S2279;RH12118;RH68265;SETDB1_7959;SHGC-2406 ESET;H3-K9-HMTase4;KG1T;KIAA0067;KMT1E;TDRD21 ERG-associated protein with SET domain;ERG-associated protein with a SET domain, ESET;H3-K9-HMTase 4;OTTHUMP00000032929;OTTHUMP00000234730;OTTHUMP00000234731;histone H3-K9 methyltransferase 4;histone-lysine N-methyltransferase SETDB1;histone-lysine N-methyltransferase, H3lysine-9 specific 4;lysine N-methyltransferase 1E;tudor domain containing 21 APPROVED protein-coding ENSG00000143379 10761 06828 604396 REVIEWED 1344560 SEZ6L seizure related 6 homolog (mouse)-like 22 22 22 q12.1 10369614 10583724 + 24895480 25106437 + 26565440 26779563 + 1580863;6480464 11992124;19336575;17804757;15489334;15461802;12975309;12529303;12477932;22837378;11175339;10591208;10231032;19913121;20628086;17554300;19955471;20379614;20424129;21901158 23544 B0QYH4;B0QYH5;B4DGV2;B7ZLJ8;Q6IBZ4 AB023144;AB041736;ABBA01055192;ABBA01055193;ABBA01055194;ABBA01055195;ABBA01055196;ABBA01055197;ABBA01055198;AK294790;AL022337;AL023513;AL035545;AL050253;AL078460;AL080273;AMYH01012682;AMYH01012683;AY358405;BC037846;BC126115;BC143851;BC143854;BM875686;CH471095;CR456574;NM_001184773;NM_001184774;NM_001184775;NM_001184776;NM_001184777;NM_021115 AAI26116;AAI43852;AAI43855;AAQ88771;BAA76771;BAB40970;BAG57913;CAB37431;CAB43355;CAG30460;CAK54604;CAK54903;EAW59711;EAW59712;EAW59713;EAW59714;NP_001171702;NP_001171703;NP_001171704;NP_001171705;NP_001171706;NP_066938;Q9BYH1 Hs.194766 1339163;1339925;1654537;1658037;1674987;1675186;1678737;1706718;1716057;1726473;1727893;1735066;1774665;1784494;1848409;1854779;1856763;2115184;2163463;2166063;2173652;2182185;5093542;5113502 A002S43;A008Q32;A009Q26;D22S1013E;D22S1017E;D22S1154;D22S1684;D22S310;D22S635;D22S638;D22S988E;G09583;G13368;G18187;G32780;G62616;G63363;HSC2JG082;RH120992;RH77725;SHGC-141571;SHGC-82865;WI-18670;WI-21996 OTTHUMP00000198626;OTTHUMP00000198627;OTTHUMP00000198628;OTTHUMP00000198629;OTTHUMP00000198648;OTTHUMP00000198649;seizure 6-like protein;seizure related gene 6-like protein-coding ENSG00000100095 10763 08449 607021 VALIDATED 1342667 SF3A3P1 splicing factor 3a, subunit 3 pseudogene 1 20 20 20 p13 3531891 3533586 - 3418076 3419752 - 3469976 3471671 - 170548 ABBA01053824;AL109805;AMYH01011676;NG_001054;NG_029406 1651420 D20S1122 SF3A3P;dJ581P3.1 splicing factor 3a, subunit 3 pseudogene pseudo 16576 INFERRED 1603800 SF3A3P2 splicing factor 3a, subunit 3 pseudogene 2 11 11 11 q24.1 120626866 120629601 - 122972563 122975478 - 123467446 123470182 - 449645 ABBA01031270;AMYH01004101;AP002765;NG_004710 1681251;2123489 RH79909;SHGC-74617 pseudo 23277 INFERRED 1606022 SEZ6L2 seizure related 6 homolog (mouse)-like 2 This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 16 16 16 p11.2 72886639 72900492 + 29790329 29818074 - 29882480 29910585 - 6480464 17207965;16344560;16303743;14702039;12975309;12477932;19242545;19260139;8619474;9110174;21988832;23006423;23273568;21394203;16863507;20503337;21890473 26470 B7Z5L4;H3BN26;I3L111;Q6UXD5 ABBA01013112;ABBA01013113;ABBA01013114;ABBA01013115;AC120114;AF131749;AJ245820;AJ245821;AJ245822;AK027407;AK027676;AK074998;AK293675;AK299103;AMYH01007495;AY358404;BC000567;CH471238;DA188718;DA726021;EL733582;GN088322;NG_029737;NM_001114099;NM_001114100;NM_001243332;NM_001243333;NM_012410;NM_201575 AAH00567;AAQ88770;ABW03462;BAC11345;BAG51315;BAG51364;BAH11566;BAH12950;CAB57950;CAB57951;CAB57952;CAX86995;EAW79973;NP_001107571;NP_001107572;NP_001230261;NP_001230262;NP_036542;NP_963869;Q6UXD5 Hs.6314 1679027;1682726;1772619;2151310;2181778 D16S3185;RH11802;RH64895;SHGC-60606;UniSTS:67512 FLJ90517;PSK-1 OTTHUMP00000162991;OTTHUMP00000162992;seizure 6-like protein 2;type I transmembrane receptor (seizure related protein);type I transmembrane receptor (seizure-related protein) APPROVED protein-coding ENSG00000174938 30844 06686 REVIEWED 1347866 SETX senataxin This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008] 9 9 q34.13 134126648 134220193 - 135136827 135230372 - 1580863;6480464;7240710 22088787;17562789;19141356;19058054;18405395;18350359;17593543;17096168;17081983;16964243;16717225;15732101;15489334;15164053;15106121;14770181;14702039;12477932;11022012;9734811;9497266;8889548;8125298;21112256;21324166;20800603;20936779;19515850;19569000;19593598;19744353;20379614;20301333;21576111;21700224;23129421;23149945;21190393;21252943;19471022;21139048;21693764;21906983;21963094;21987572;15174051;23000965;20301623;22577233;22980978;22505724 23064 Q68DW5 AB014525;ABBA01032489;ABBA01032490;AK001456;AK022902;AK024331;AK025601;AK125448;AK226007;AK302394;AK307608;AL159997;AL353701;AMYH01021787;AY362728;BC032600;BC032622;BC078166;BC106017;BC137350;BM718142;BX537849;BX538166;CH471090;CR749249;NG_007946;NM_015046 AAH32600;AAH32622;AAH78166;AAI06018;AAI37351;AAR13367;BAA31600;BAA91701;BAB14299;BAC86166;BAG63708;CAD97857;CAD98045;CAH18105;EAW87997;EAW87998;EAW87999;EAW88000;NP_055861;Q7Z333 Hs.460317 1337349;1339677;1671116;1680230;1735948;1787004;1857520;2132595;2146462;7186178 A008M28;Cda1bc05;D9S1073E;D9S164;D9S1831;D9S1847;RH91796;SHGC-149376;SHGC-16732;WI-12222 ALS4;AOA2;DKFZp781B151;FLJ12840;FLJ43459;KIAA0625;SCAR1;bA479K20.2 OTTHUMP00000022428;OTTHUMP00000022429;SEN1 homolog;amyotrophic lateral sclerosis 4;amyotrophic lateral sclerosis 4 protein;probable helicase senataxin APPROVED protein-coding ENSG00000107290 445 07622 602433;606002;608465 REVIEWED 1346504 SF1 splicing factor 1 This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence and is required for the early stages of spliceosome assembly. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 11 11 q13 64288654 64302817 - 64532076 64546316 - 6480464;7240710 8752089;9660765;18305892;15647371;7912130;9731529;18974054;18285458;17383426;17081983;16964243;17332742;16189514;15489334;15456888;15302935;12718882;12477932;12176931;11691992;11604498;11467860;10449420;9573336;9512519;9506990;9192847;9150140;8668206;1406644;21145461;16002533;18029348;16055720;16595694;21146534;21062807;21360626;22927646;21505248;20133449;22939629;21139048;21890473;21906983;11574675;12917325;21987572;22412018;23273425;21768215;22863883;19738201;22365833;22623428;22906951;23000965;23151878;23275563;23349634;23450049;22053931 7536 B4DX42;C9J792;F8WEG7;F8WEV5;H7BZT1;H7C0N4;H7C561;Q92745 ABBA01024146;ABBA01024147;AI492561;AJ000051;AJ000052;AK293753;AK296237;AK299705;AK301803;AMYH01003711;AMYH01003712;AMYH01003713;AP001462;BC000773;BC008080;BC008724;BC011657;BC020217;BC032676;BC034451;BC038446;BC069273;BQ230035;BU624935;BX095574;CH471076;D26120;D26121;D26122;DC368015;DC370979;L49345;L49380;NG_021399;NM_001178030;NM_001178031;NM_004630;NM_201995;NM_201997;NM_201998;NR_033649;NR_033650;Y08765;Y08766 AAB03514;AAB04033;AAH00773;AAH08080;AAH08724;AAH20217;AAH38446;ACE87042;ACE87725;BAA05116;BAA05117;BAA05118;BAA05119;BAG58956;BAG61606;BAG63254;BAH11587;CAA03883;CAA70018;CAA70019;EAW74286;EAW74287;EAW74288;EAW74289;EAW74290;EAW74291;EAW74292;EAW74293;EAW74294;EAW74295;EAW74296;EAW74297;NP_001171501;NP_001171502;NP_004621;NP_973724;NP_973726;NP_973727;Q15637 Hs.502829 1670632;1682101;1775543;1778750;1799424;1799426;1799516;1799838;1799840;1800726;1802342;1802654;1802702;1804102;1805698;1807590;1808792;1809748;1818346;1843708;1970954;1970956;1970958;1970960;1970962;1970964;1970966;1970968;1970970;1970972;1970974;1970976;1970978;1970980;1970982;1970984;1970986;1970988;1970990;1970992;1970994;1970996;1970998;1971000;1971002;1971004;1971006;1971008;1971010;1971012;1971014;1971016;1971018;1971020;1971022;1971024;1971026;1971028;1971030;1971032;1971034;1971036;1971038;1971040;1971042;1971044;1971046;1971048;1971050;1971052;1971054;1971056;1971058;1971060;1971062;1971064;1971066;1971068;1971070;1971072;1971074;1971076;1971078;1971080;1971082;1971084;1971086;1971088;1971090;2121924;2147546;2178723;2214890;2214892;2214894;2214896;2214898;2214900;2214902;2214904;2214906;2214908 D11S4328;D11S4350;ECD00563;ECD00564;ECD00610;ECD00773;ECD00774;ECD01224;ECD02055;ECD02214;ECD02238;ECD02969;ECD03799;ECD04767;ECD05379;ECD05866;ECD10230;ECD23065;G33087;REN56360;REN56361;REN56362;REN56363;REN56364;REN56365;REN56366;REN56367;REN56368;REN56369;REN56370;REN56371;REN56372;REN56373;REN56374;REN56375;REN56376;REN56377;REN56378;REN56379;REN56380;REN56381;REN56382;REN56383;REN56384;REN56385;REN56386;REN56387;REN56388;REN56389;REN56390;REN56391;REN56392;REN56393;REN56394;REN56395;REN56396;REN56397;REN56398;REN56399;REN56400;REN56401;REN56402;REN56403;REN56404;REN56405;REN56406;REN56407;REN56408;REN56409;REN56410;REN56411;REN56412;REN56413;REN56414;REN56415;REN56416;REN56417;REN56418;REN56419;REN56420;REN56421;REN56422;REN56423;REN56424;REN56425;REN56426;REN56427;REN56428;RH91433;SHGC-35223;STS-D26120;ZNF162;stSG635670;stSG635671;stSG635672;stSG635673;stSG635674;stSG635675;stSG635676;stSG635677;stSG635678;stSG635681 BBP;D11S636;MBBP;ZCCHC25;ZFM1;ZNF162 OTTHUMP00000069749;OTTHUMP00000069750;OTTHUMP00000069751;OTTHUMP00000069752;OTTHUMP00000069753;OTTHUMP00000196697;mammalian branch point-binding protein;splicing factor 1;transcription factor ZFM1;zinc finger gene in MEN1 locus;zinc finger protein 162 APPROVED protein-coding ENSG00000168066 12950 03306 601516;612964;612965;613957 REVIEWED 1318510 SF3A2 splicing factor 3a, subunit 2, 66kDa This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008] 19 19 p13.3 2187816 2199678 + 2236816 2248678 + 1580863;6480464;6907045 8211113;15647371;12226669;9731529;15489334;15316075;15231748;15142036;15057824;12477932;12234937;11991638;11602354;11533230;11500380;10882114;10385517;9710584;9576861;9016565;8718683;8541848;21145461;19615732;20379614;16055720;17549794;22939629;16009940;17332742;20360068;21139048;21890473;21906983;22318606;15576338;22174317 8175 K7EKV8;K7EMT0;K7EP23;Q05DF2;Q15428 ABBA01002714;AC005263;AK314815;AMYH01009278;BC004434;BC009903;BC015804;BG325385;BQ642367;CH471139;L21990;NM_007165 AAA60301;AAC25613;AAH04434;AAH09903;AAH15804;ABM87780;BAG37338;EAW69398;EAW69399;EAW69400;EAW69401;EAW69402;EAW69403;EAW69404;NP_009096;Q15428 Hs.115232 5015810 GDB:182516 PRP11;PRPF11;SAP62;SF3a66 SAP 62;pre-mRNA splicing factor SF3A, subunit 2;spliceosome associated protein 62;spliceosome-associated protein 62;splicing factor 3A subunit 2 APPROVED protein-coding ENSG00000104897 10766 02877 600796 REVIEWED 1322957 SF3A1 splicing factor 3a, subunit 1, 120kDa This gene encodes subunit 1 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 1 belongs to the SURP protein family; named for the SURP (also called SWAP or Suppressor-of-White-APricot) motifs that are thought to mediate RNA binding. Subunit 1 has tandemly repeated SURP motifs in its amino-terminal half while its carboxy-terminal half contains a proline-rich region and a ubiquitin-like domain. Binding studies with truncated subunit 1 derivatives demonstrated that the two SURP motifs are necessary for binding to subunit 3 while contacts with subunit 2 may occur through sequences carboxy-terminal to the SURP motifs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 22 22 q12.2 29057977 29082913 - 30727977 30752913 - 1580863;6480464;6907045 10882114;10976766;17353931;15647371;12226669;18029348;17081983;15761153;15592455;15527767;15489334;15461802;15456888;15316075;15302935;12477932;12234937;11991638;11533230;11500380;11337467;11101529;10591208;10385517;9847074;9731529;8718683;8022796;7489498;11013263;21145461;20562859;16055720;16751776;17643375;19615732;20379614;22863883;22939629;22990118;23084401;23184937;17332742;21628590;19850743;20360068;20639865;21081666;22178446;19471022;21139048;21693764;21890473;21906983;22318606;22586326;22174317;22797925 10291 E9PAW1;F8WB66;F8WC79;H7C1L2;Q15459 ABBA01055293;AC004997;AI681052;AK098463;AK303273;AMYH01012705;AU100212;AV750569;BC001976;BC007684;BF965438;BI827130;BQ212479;BQ223575;BQ437843;BQ447452;CA440158;CH471095;CR456575;NG_032902;NM_001005409;NM_005877;X85237 AAC23435;AAH01976;AAH07684;ABM83613;ABM86857;BAG64353;CAA59494;CAG30461;CAK54605;CAK54904;EAW59878;EAW59879;NP_001005409;NP_005868;Q15459 Hs.406277;Hs.505597 1850396;2126420;2133676;2142641;2167040;2174645 D22S1559;RH17805;RH78161;STS-W73688;STS-X85237;WI-10121 PRP21;PRPF21;SAP114;SF3A120 OTTHUMP00000198919;SAP 114;pre-mRNA processing 21;pre-mRNA splicing factor SF3a (120 kDa subunit);spliceosome associated protein 114;spliceosome-associated protein 114;splicing factor 3 subunit 1;splicing factor 3A subunit 1 APPROVED protein-coding ENSG00000099995 10765 06903 605595 REVIEWED 1347608 SF3B4P1 splicing factor 3b, subunit 4 pseudogene 1 14 14 14 q23.3 47724815 47726324 + 66735524 66737020 + 67665758 67667277 + 326276 ABBA01023719;AL135978;AMYH01005812;NG_002536 1793058 PMC193924P1 SF3B4P APPROVED pseudo 19821 INFERRED 1318668 SF3A3 splicing factor 3a, subunit 3, 60kDa This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. [provided by RefSeq, Jul 2008] 1 1 p34.3 38195234 38228348 - 38422647 38455761 - 1580863;6480464;6907045 7816610;17353931;15647371;12226669;9731529;18713018;17081983;16710414;16189514;15635413;15592455;15489334;15456888;15316075;14559993;12565890;12477932;12234937;11991638;11533230;11500380;10882114;8889548;8125298;8022796;21145461;19615732;18029348;21832049;22939629;16055720;17332742;22863883;22354994;20360068;22079093;22178446;21139048;21890473;21906983;18654987;22174317;22190034 10946 B3KY12;E7EUT8;Q12874 ABBA01023251;ABBA01023252;ABBA01023253;ABBA01023254;AI492088;AK026887;AK128438;AK222554;AK291181;AK292116;AK301424;AL603790;AMYH01000508;AMYH01000509;BC002395;BC011523;BM702776;BM905122;CA443595;CH471059;N67022;N91991;NM_006802;U08815 AAA19625;AAH02395;AAH11523;ABM82046;ABW03360;BAD96274;BAF83870;BAF84805;BAG54674;BAG62952;EAX07304;EAX07305;EAX07306;NP_006793;Q12874 Hs.77897 1341860;1651420;1681251;1720941;1766685;2109825;2123489;2133362 D20S1122;DXS8093;G59300;RH70925;RH79909;SF3A3_9201;SHGC-149969;SHGC-74617 PRP9;PRPF9;SAP61;SF3a60 OTTHUMP00000004730;SAP 61;pre-mRNA splicing factor SF3a (60kD);spliceosome associated protein 61;spliceosome-associated protein 61;splicing factor 3A subunit 3 APPROVED protein-coding 10767 10411 605596 REVIEWED 1316185 SF3B2 splicing factor 3b, subunit 2, 145kDa This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008] 11 11 q13.1 65576392 65592958 + 65819816 65836382 + 1580863;6480464;6907045 16189514;12634307;15146077;17353931;8566756;12226669;9731529;17081983;16923959;15635413;15456888;15302935;14651998;12477932;12234937;11991638;11500380;11287586;10882114;10490618;9601606;7958871;16571786;21145461;17403666;11101529;17643375;16055720;16159877;20696395;21832049;22939629;18029348;17620599;22586326;17332742;18457437;18781797;20360068;21081666;21900206;22178446;20682791;21628590;22415777;19471022;21139048;21549307;21693764;21890473;21906983;21926972;19329795;17347016;18275585;19275585;20012529;22505724;22944692 10992 E9PIL8;E9PJ04;E9PJT3;E9PPJ0;H0YCG1;H0YEX5;Q13435 ABBA01024092;AK126488;AK290850;AK300016;AMYH01003728;AP006287;BC000401;BC007610;BC014125;BC051237;BC053577;BE677116;BF311442;BX537771;CH471076;NM_006842;U41371 AAA97461;AAH00401;AAH07610;AAH14125;AAH53577;ADZ15333;BAF83539;BAG61831;CAD97834;EAW74491;EAW74492;EAW74493;EAW74494;EAW74495;EAW74496;EAW74497;EAW74498;EAW74499;EAW74500;EAW74501;NP_006833;Q13435 Hs.406423 5016781;5118444;5491605 D11S3316;MARC_24069-24070:1030027541:1;SHGC-67307 Cus1;SAP145;SF3B145;SF3b1;SF3b150 OTTHUMP00000234151;OTTHUMP00000234152;SAP 145;pre-mRNA splicing factor SF3b 145 kDa subunit;pre-mRNA-splicing factor SF3b 145 kDa subunit;spliceosome associated protein 145;spliceosome-associated protein 145;splicing factor 3B subunit 2 APPROVED protein-coding ENSG00000087365 10769 10410 605591 REVIEWED 1346641 SF3B1 splicing factor 3b, subunit 1, 155kDa This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 2 2 q33.1 197964943 198008016 - 198256698 198299771 - 1580863;6480464;6907045 15146077;22064353;9585501;17353931;12226669;18559850;18974054;18842582;18076038;17931603;17081983;16964243;16790528;16376933;15302935;14730023;14702039;12738865;12477932;12234937;12105215;11991638;11500380;10882114;10737800;10688664;9110174;8619474;18173839;11101529;10490618;9891079;22064355;22496461;21145461;11406595;9671485;15456888;15231748;16216881;16512921;20936779;22826563;22939629;16055720;16603771;19454010;23435461;17403666;17803295;16335966;23568491;21995386;21182205;19471022;20305087;17332742;22738114;17620599;22318606;22586326;22096241;22158541;15840729;15848144;16051665;18457437;19596686;19850743;20360068;21081666;21900206;21987572;21998214;22178446;21252943;21886174;23280334;20972266;21139048;21693764;21890473;21906983;22039264;22323480;20462248;23084401;23184937;22461140;23160465;23531595;23313955;23243274;19738201;19805454;21963094;22113938;22365833;22751105;23000965;23138133;23151878;23335386;23113893;12549820;22505724;22797925;22921018 23451 A0JLT9;B4DGZ4;F8WC19;H7C341;O75533;Q7Z497 ABBA01062473;ABBA01062474;ABBA01062475;AC010746;AF054284;AF070540;AF086296;AK057684;AK290470;AK294851;AK308122;AL137410;AMYH01011388;BC015530;BC029418;BC039020;BC046140;BC056155;BC064335;BC107883;BE168220;CD692669;CH471063;NG_032903;NM_001005526;NM_012433 AAC28633;AAC97189;AAH15530;AAH29418;AAH56155;AAI07884;BAF83159;BAG57955;CAB70728;EAW70146;NP_001005526;NP_036565;O75533 Hs.632554 1649161;1712208;1723827;1853731;2190545;2190913;2191151;5121767;5491991 A006O45;D2S1533E;EST23H7;G54156;MARC_11487-11488:1000830916:1;MARC_15343-15344:1013437555:1;RH118649;RH66152;SF3B1-1 Hsh155;MDS;PRP10;PRPF10;SAP155;SF3b155 OTTHUMP00000205700;OTTHUMP00000205702;OTTHUMP00000225001;OTTHUMP00000225002;SAP 155;pre-mRNA processing 10;pre-mRNA splicing factor SF3b, 155 kDa subunit;pre-mRNA-splicing factor SF3b 155 kDa subunit;spliceosome associated protein 155;spliceosome-associated protein 155;splicing factor 3B subunit 1 APPROVED protein-coding ENSG00000115524 10768 09281 605590;614286 REVIEWED 1602118 SF3B14 splicing factor 3B, 14 kDa subunit This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008] 2 2 2 pter-p25.1 24130785 24139642 - 24143958 24152818 - 24290454 24299314 - 6480464;6907045 17353931;12226669;15635413;15592455;15489334;15146077;12738865;12477932;12234937;11500380;11329013;11042152;10931946;10810093;21145461;17332742;16432215;19773279;21832049;22939629;19167051;20360068;21987572;21139048;21890473;21906983;21628590;22505724 51639 Q53TM1;Q9Y3B4 ABBA01045101;ABBA01045102;AC008073;AF151868;AF161523;AF184213;AF401310;AK000621;AK311118;AK311908;AMYH01010164;BC015463;BG200650;CH471053;NM_016047 AAD34105;AAF29138;AAG09698;AAH15463;AAK94041;AAY14664;ADZ15691;BAG34849;EAX00767;NP_057131;Q9Y3B4 Hs.177861 1661371;1676508;2147105 RH16180;RH69280;SGC34447 CGI-110;HSPC175;Ht006;P14;SAP14;SF3B14a OTTHUMP00000155154;SF3b 14 kDa subunit;pre-mRNA branch site protein p14;spliceosome-associated protein, 14 kDa subunit APPROVED protein-coding ENSG00000115128 09702 607835 REVIEWED 1345762 SF3B5 splicing factor 3b, subunit 5, 10kDa 6 6 6 q24.2 145156476 145157212 - 144457711 144458447 - 144416018 144416754 - 1580863;6480464;6907045 12234937;12226669;16381901;15489336;15489334;14574404;12477932;11256614;11076863;15146077;16341674;22939629;16159877;17332742;20360068;21139048;21890473;21628590;22053931;22505724 83443 Q9BWJ5 ABBA01025741;AK074417;AK312079;AL031390;AMYH01016723;BC000198;BK000562;BM823656;CH471051;NM_031287 AAH00198;BAG35015;CAL37949;DAA00073;EAW47851;NP_112577;Q9BWJ5 Hs.110695 1643842;2138581 RH41837;SGC31952 MGC3133;SF3b10;Ysf3 OTTHUMP00000017343;pre-mRNA-splicing factor SF3b 10 kDa subunit;splicing factor 3B subunit 5 protein-coding ENSG00000169976 21083 18042 VALIDATED 1347387 SFI1 Sfi1 homolog, spindle assembly associated (yeast) 22 22 22 q12.2 15692769 15814976 + 30222261 30344534 + 31892125 32014537 + 6480464 16956364;16189514;14702039;14504268;12477932;9628581;11101529;16009131;11076968;12221128;12852856;16462731;19857500;7790358;19389623;16344560 9814 D3YTJ2;E5RJU6;F8WBU4;H0Y5I7;H0Y836;H7BZF3;H7C2F1;Q8WU14 AB011114;ABBA01055333;ABBA01055334;ABBA01055335;ABBA01055336;ABBA01055337;ABBA01055338;ABBA01055339;ABBA01055340;ABBA01055341;AI141022;AK055147;AK097004;AK292408;AK293987;AK303362;AL096701;AL096768;AL109802;AL708501;AMYH01012717;AMYH01012718;AMYH01012719;BC021576;BC033613;BC041101;BC046221;BC110814;BC129926;BC129945;CH471095;DA202472;DA391957;DA534059;DC369327;DC369842;NM_001007467;NM_001258325;NM_001258326;NM_001258327;NM_014775 A8K8P3;AAH21576;AAI10815;AAI29927;AAI29946;BAA25468;BAF85097;BAH11642;BAH13949;EAW59980;EAW59981;EAW59982;EAW59983;NP_001007468;NP_001245254;NP_001245255;NP_001245256;NP_055590 Hs.62209;Hs.742373 1662857;1721425;1798968;1804268;1804756;1805170;1805844;1806928;1807208;1807604;1807742;1809764;1810410;1810974;1811440;1811520;1813952;1814180;1816108;1817372;1817594;1818358;1818566;1819004;1819502;1820466;1820766;1822084;1823644;1825578;1827120;1827122;1827206;1827300;1828856;1830178;1830338;1831078;1832016;1832758;1832974;1833186;1833248;1834442;1834858;1835638;1837906;1838036;1838574;1838618;1839408;1839514;1839516;1840944;1841552;1842034;1842386;1842634;1843138;1843396;1843714;1844134;1844136;1844442;1844624;1845488;1845996;1846224;1858578;2006526;2006528;2006530;2006532;2006534;2006536;2006538;2006540;2006542;2006544;2006546;2006548;2006550;2006552;2006554;2006556;2006558;2006560;2006562;2006564;2006566;2006568;2006570;2006572;2006574;2006576;2006578;2006580;2006582;2006584;2006586;2006588;2006590;2006592;2006594;2006596;2006598;2006600;2006602;2006604;2006606;2006608;2006610;2006612;2006614;2006616;2006618;2006620;2006622;2006624;2006626;2006628;2006630;2006632;2006634;2006636;2006638;2006640;2006642;2006644;2006646;2006648;2006650;2006652;2006654;2006656;2006658;2006660;2006662;2006664;2006666;2006668;2006670;2006672;2006674;2006676;2006678;2006680;2006682;2006684;2006686;2006688;2006690;2006692;2006694;2006696;2006698;2006700;2006702;2006704;2006706;2006708;2006710;2006712;2006714;2006716;2006718;2006720;2006722;2006724;2006726;2006728;2006730;2006732;2006734;2006736;2006738;2006740;2006742;2006744;2006746;2006748;2006750;2006752;2006754;2006756;2006758;2006760;2006762;2006764;2006766;2006768;2006770;2006772;2006774;2006776;2006778;2006780;2006782;2006784;2006786;2006788;2006790;2006792;2006794;2006796;2006798;2006800;2006802;2006804;2006806;2006808;2006810;2006812;2006814;2006816;2006818;2006820;2006822;2006824;2006826;2006828;2006830;2006832;2006834;2006836;2006838;2006840;2006842;2006844;2006846;2006848;2006850;2006852;2006854;2006856;2006858;2006860;2006862;2006864;2006866;2006868;2006870;2006872;2006874;2006876;2006878;2006880;2006882;2006884;2006886;2006888;2006890;2006892;2006894;2006896;2006898;2006900;2006902;2006904;2006906;2006908;2006910;2006912;2006914;2006916;2006918;2006920;2006922;2006924;2006926;2006928;2006930;2006932;2006934;2006936;2006938;2006940;2006942;2006944;2006946;2006948;2006950;2006952;2006954;2006956;2006958;2006960;2006962;2006964;2006966;2006968;2006970;2006972;2006974;2006976;2006978;2006980;2006982;2006984;2006986;2006988;2006990;2006992;2006994;2006996;2006998;2007000;2007002;2007004;2007006;2007008;2007010;2007012;2007014;2007016;2007018;2007020;2007022;2007024;2007026;2007028;2007030;2007032;2007034;2007036;2007038;2007040;2007042;2007044;2007046;2007048;2007050;2007052;2007054;2007056;2007058;2007060;2007062;2007064;2007066;2007068;2007070;2007072;2007074;2007076;2007078;2007080;2007082;2007084;2007086;2007088;2007090;2007092;2007094;2007096;2007098;2007100;2007102;2007104;2007106;2007108;2007110;2007112;2007114;2007116;2007118;2007120;2007122;2007124;2007126;2007128;2007130;2007132;2007134;2007136;2007138;2007140;2007142;2007144;2007146;2007148;2007150;2007152;2007154;2007156;2007158;2007160;2007162;2007164;2007166;2007168;2007170;2007172;2007174;2007176;2007178;2007180;2007182;2007184;2007186;2007188;2007190;2007192;2007194;2007196;2007198;2007200;2007202;2007204;2007206;2007208;2007210;2007212;2007214;2007216;2007218;2007220;2007222;2007224;2007226;2007228;2007230;2007232;2007234;2007236;2007238;2007240;2007242;2007244;2007246;2007248;2007250;2007252;2007254;2007256;2007258;2007260;2007262;2007264;2007266;2007268;2007270;2007272;2007274;2007276;2007278;2007280;2007282;2007284;2007286;2007288;2007290;2007292;2007294;2007296;2007298;2007300;2007302;2007304;2007306;2007308;2007310;2007312;2007314;2007316;2007318;2007320;2007322;2007324;2007326;2007328;2007330;2007332;2007334;2007336;2007338;2007340;2007342;2007344;2007346;2007348;2007350;2007352;2007354;2007356;2007358;2007360;2007362;2007364;2007366;2007368;2007370;2007372;2007374;2007376;2007378;2007380;2007382;2007384;2007386;2007388;2007390;2007392;2007394;2007396;2007398;2007400;2007402;2007404;2007406;2007408;2007410;2007412;2007414;2007416;2007418;2007420;2007422;2007424;2007426;2007428;2007430;2007432;2007434;2007436;2007438;2007440;2007442;2007444;2007446;2007448;2007450;2097476;2097478;2097480;2097482;2097484;2097486;2097488;2097490;2097492;2097494;2097496;2097498;2097500;2097502;2097504;2097506;2097508;2097510;2097512;2097514;2097516;2097518;2097520;2097522;2097524;2097526;2097528;2097530;2097532;2097534;2097536;2097538;2097540;2097542;2097544;2097546;2097548;2097550;2097552;2097554;2097556;2097558;2097560;2097562;2097564;2097566;2097568;2097570;2097572;2097574;2097576;2097578;2097580;2097582;2097584;2097586;2097588;2097590;2097592;2097594;2097596;2097598;2097600;2097602;2097604;2097606;2097608;2097610;2097612;2097614;2097616;2097618;2097620;2129056 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02;stSG602103;stSG602104;stSG602105;stSG602106;stSG602107;stSG602108;stSG602110;stSG602111;stSG602112;stSG602113;stSG602114;stSG602115;stSG602116;stSG602117;stSG602118;stSG602119;stSG602122;stSG602123;stSG602124;stSG602125;stSG602126;stSG602127;stSG602128;stSG602129;stSG602130;stSG602131;stSG602132;stSG602133;stSG602134;stSG602135;stSG602136;stSG602137;stSG602138;stSG602139;stSG602141;stSG602142;stSG602143;stSG602144;stSG602145;stSG602147;stSG602151;stSG602152;stSG602153;stSG602154;stSG602155;stSG602156;stSG602157;stSG602158;stSG602159;stSG602160;stSG602162;stSG602163;stSG602164;stSG602165 MGC131712;MGC150663;MGC156283;MGC57874;PISD;RP5-858B16.1;hSfi1p OTTHUMP00000028604;OTTHUMP00000195955;OTTHUMP00000206735;OTTHUMP00000206736;OTTHUMP00000208985;hSFI1;homolog of yeast Sfi1;protein SFI1 homolog protein-coding ENSG00000198089 29064 11550 612765 VALIDATED 1349613 SFPQP1 splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 1 Y Y Y q11.1 2200169 2203086 + 13716083 13719129 + 15206718 15209635 + 12815422 23758 ABBA01065572;AC005820;NG_002816 SFPQP splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) pseudogene APPROVED pseudo 10775 INFERRED 1320131 SF3B4 splicing factor 3b, subunit 4, 49kDa This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008] 1 1 q21.2 148161835 148166326 - 149895209 149900144 - 1580863;6480464;6907045;7240710 7958871;14667819;17353931;17474147;12226669;9731529;18391951;17513295;16236267;16189514;15592455;15489334;15456888;15351706;14702039;12738865;12477932;12234937;11500380;10882114;10490618;8125298;16923959;15146077;17332742;20881960;21145461;16751776;11101529;16055720;16159877;16344560;20811636;22939629;22415777;21988832;22365833;23000965;18781797;19850743;20360068;16009940;18654987;21139048;22318606;22541558;15576338;17347016;19275585;20012529 10262 B3KUJ0;Q15427;Q5SZ64 ABBA01049314;AC239868;AI925089;AK097315;AK223322;AK310495;AL590487;AL591493;AMYH01001373;BC004273;BC013886;BC090883;BM460550;CH471121;DA535996;L35013;NG_032777;NM_005850 AAA60300;AAH04273;AAH13886;AAH90883;ABM83897;ABM87219;ABW03550;BAD97042;BAG53452;CAI12553;CAI12554;CAI12647;CAI12648;EAW53595;NP_005841;Q15427 Hs.516160 1664999;1793058;2108907;2131429;2218430 CRA_4632;PMC193924P1;RH36569;RH69043;SF3B4_9078 AFD1;Hsh49;MGC10828;SAP49;SF3b49 OTTHUMP00000014064;SAP 49;SF3b50;pre-mRNA splicing factor SF3b 49 kDa subunit;pre-mRNA-splicing factor SF3b 49 kDa subunit;spliceosomal protein;spliceosome-associated protein (U2 snRNP);spliceosome-associated protein 49;splicing factor 3B subunit 4 APPROVED protein-coding ENSG00000143368 10771 12028 154400;605593 REVIEWED 1312812 SFMBT2 Scm-like with four mbt domains 2 10 10 10 p14 7129950 7379087 - 7244255 7493456 - 7200586 7453448 - 6480464 15164054;14702039;10997877;12477932;16344560;22581228;23385818 57713 Q5T980;Q5T981;Q5VUG0 AB046837;ABBA01034744;ABBA01034745;ABBA01034746;ABBA01034747;ABBA01034748;ABBA01034749;ABBA01034750;ABBA01034751;ABBA01034752;AK057130;AK090887;AL138771;AL139125;AL158046;AL590095;AMYH01002009;AMYH01002010;AMYH01002011;BC067242;BC144327;BC152430;CH471072;DA152101;NM_001018039;NM_001029880 AAI52431;AAI67860;BAB13443;EAW86385;NP_001018049;NP_001025051;Q5VUG0 Hs.407983 1341575;1673328;1690117;1698362;1725127;1750355;1750741;1759559;1772681;1772790;1772792;1849109;1851093;2107567 A006I02;D10S1691;D10S2415;G20829;RH102722;RH118865;RH93166;SFMBT2__6821;SHGC-112529;SHGC-151224;SHGC-31288;SHGC-34011;SHGC-5567;STS-AA004318 OTTHUMP00000019055;Scm-related gene containing four mbt domains 2;scm-like with four MBT domains protein 2 protein-coding ENSG00000198879 20256 VALIDATED 1323197 SF3B3 splicing factor 3b, subunit 3, 130kDa This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008] 16 16 q22.1 69115202 69163702 + 70557691 70611571 + 1580863;6480464;6907045 10490618;12029088;17353931;12226669;15489334;15324660;14702039;12601814;12477932;12234937;11991638;11564863;11500380;11438666;11406595;10428969;8889548;7584028;7584026;19019082;11013263;15146077;14559993;21145461;21319273;16055720;16159877;19454010;16169070;17643375;20379614;17332742;22939629;20946988;16196087;17620599;15848144;18274552;18781797;20360068;21081666;21900206;22178446;12938929;20972266;21139048;21549307;21890473;21906983;23084401;21642987;21963094;21988832;22365833;22751105;22939624;23000965;23455922;23463506;22053931 23450 A8K6V3;H3BMB0;I3L4G7;J3QKV4;J3QL37;J3QRB2;Q15393 ABBA01010655;ABBA01010656;ABBA01010657;AC106804;AJ001443;AK001297;AK074933;AK291768;AL110251;AMYH01007784;AW449427;BC000463;BC003146;BC009780;BC068974;BI465052;CB241776;CH471241;D13642;D87686;NM_012426 AAH00463;AAH03146;AAH09780;AAH68974;ADZ15869;BAA02805;BAA32662;BAF84457;BAG50889;BAG52033;CAB53699;CAB56791;EAW51803;EAW51804;EAW51805;NP_036558;Q15393 Hs.514435 1651200;1671075;1685009;1690258;1789254;1849891;2106601;5016478;5037552 D16S3312;D8S2279;G65634;GDB:434012;RH25256;RH64904;SF3B3__5388;SHGC-61444;STS-AA007595 KIAA0017;RSE1;SAP130;SF3b130;STAF130 OTTHUMP00000174907;SAP 130;pre-mRNA splicing factor SF3b, 130 kDa subunit;pre-mRNA-splicing factor SF3b 130 kDa subunit;spliceosome-associated protein 130;splicing factor 3B subunit 3 APPROVED protein-coding 10770 12027 605592 REVIEWED 1343140 SFMBT1 Scm-like with four mbt domains 1 This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012] 3 3 3 p21.1 52916400 53047177 - 52913667 53055110 - 52937583 53080089 - 1580863;6480464 17599839;15489334;12477932;10661410;16189514;16344560;21325761;21926972;22479346;23592795;21988832;23349461;23128233;23263486 51460 C9IY64;C9IZZ5;C9JWI3;Q9UHJ3 AB189472;ABBA01024495;ABBA01024496;ABBA01024497;AC096887;AC099667;AC103589;AF168132;AI206996;AK313965;AL080140;AL523328;AMYH01013188;AMYH01013189;AMYH01013190;BC014614;BG717319;BG723139;BM560104;BU553665;CH471055;CR981845;DB064119;DB070525;DB081417;DB085221;NM_016329 AAF19794;AAH14614;ABM83787;ABM87109;BAE43835;BAG36680;CAB45734;EAW65271;EAW65272;EAW65273;NP_057413;Q9UHJ3 Hs.343679 1708124;1719989;1775620;2109827;2120516;5491413 D3S4223;MARC_10469-10470:999704456:1;RH123971;RH46044;SFMBT1_9721;SHGC-81462 DKFZp434L243;RU1;SFMBT;hSFMBT OTTHUMP00000213927;Scm-related gene containing four mbt domains;Scm-related gene product containing four mbt domains;renal ubiquitous protein 1;scm-like with four MBT domains protein 1 APPROVED protein-coding ENSG00000163935 20255 09539 607319 REVIEWED 1313532 SFR1 SWI5-dependent recombination repair 1 10 10 10 q25.1 99622685 99627012 + 105871806 105876133 + 105881816 105886143 + 737633;6480464 12477932 15489334;15164054;10409428;16385451;21252223;20976249;21779174;17043677;21906983 119392 Q86XK3 ABBA01063087;AK123954;AK291184;AL357336;AMYH01003033;BC020892;BC043256;BC047587;BC140835;BE960638;BG942691;CD694866;CH471066;NM_001002759;NM_145247 AAH20892;AAI40836;BAF83873;EAW49610;EAW49611;NP_001002759;NP_660290;Q86XK3 Hs.93667 5122647 RH78802 C10orf78;FLJ41960;MEI5;MEIR5;RP11-373N18.1;bA373N18.1 MEI5 recombination repair protein homolog;OTTHUMP00000020427;OTTHUMP00000020428;SWI5-dependent recombination repair protein 1;hypothetical protein LOC119392;meiosis protein 5 homolog;swi5-dependent recombination DNA repair protein 1 homolog APPROVED protein-coding ENSG00000156384 29574 12590 VALIDATED 1312341 SFN stratifin 1 1 p36.11 27062220 27063534 + 27189633 27190947 + 1580863;2299930;2292009;2299931;2299928;2299929;2299933;2299936;6480464;6484113;6907045 16773180;16682214;16271083;18452837;16964403;15102672;11896620 20478393;8515476;11574543;10767298;19473536;19271751;19231067;19160382;19047086;18950492;18936350;18806827;18452139;18440129;18382127;18379196;18036402;18036248;17982629;17786341;17786288;17443672;17391729;17388661;17361185;17359284;16964243;16953367;16814250;16797759;16786000;16710414;16648560;16581770;16532026;16505098;16243811;16229802;16189514;16098031;16045749;15867223;15857578;15857577;15731107;15654971;15654940;15489902;15489334;15482563;15467455;15367659;15324660;15292943;15282546;15260850;15187095;15184053;15173315;15140222;15131044;15023544;14568170;14517281;12919677;12816952;12787309;12477932;12438239;12730237;12075357;11917136;11886850;10524633;9659898;1390337;1286667;15778465;11896572;16009130;15574328;12582028;19664078;20388496;20487521;12364343;12433946;15696159;16511572;16799092;16902409;17546054;17672938;18029348;19172738;19502805;19513498;19528459;19626586;19642975;19729831;19828132;19961842;20093232;20336542;19685192;20108042;20811675;20843328;21115893;20976731;21048031;16511560;20823509;21239874;15166223;21040574;21182205;22863883;22984265;21416292;22329840;21249227;15791647;16093354;23370648;23752268;22634725;20618440;21755566;21625211;21654836;21870863;21918011;21987572;22178446;22222486;22399611;21139048;21890473;21906983;22192357;21933426;16099816;11697890;17222803;19166854;22315970;22422640;22706160;14505491;16041367;16888623;21963094;21988832;22053931;22304920;23000965;23312294;23444366;19380743;22315133;22505724 2810 P31947 ABBA01034932;AF029081;AF029082;AL034380;AMYH01000414;BC000329;BC000995;BC001550;BC002995;BC023552;CH471059;CR541905;CR541926;M93010;NM_006142 AAA59546;AAC52029;AAC52030;AAH00329;AAH00995;AAH01550;AAH02995;AAH23552;ABM85088;CAG46703;CAG46724;EAX07786;EAX07787;NP_006133;P31947 Hs.523718 1792402;1793010;1793012;1793014;2129330;2145331;5022331 G06573;G15869;PMC150720P3;PMC18556P1;PMC18556P2;PMC18556P3;SHGC-74449 YWHAS 14-3-3 protein sigma;14-3-3 sigma;OTTHUMP00000004242;epithelial cell marker protein 1 protein-coding ENSG00000175793 10773 03185 601290 VALIDATED 1343285 SFPQ splicing factor proline/glutamine-rich 1 1 p34.3 35421788 35431322 - 35649201 35658743 - 1580863;6480464 11101529;8766827;9848648;10653975;11259580;15231747;8449401;19447914;18655028;18445785;17965020;17639083;17537995;17507659;17452459;17318576;17081983;16938326;16832349;16731528;16169070;16024807;15782174;15668243;15635413;15590677;15231748;15140795;14559993;12944487;12840015;12477932;12417296;12403470;11897684;11790298;11525732;11514619;11161712;11060040;10931916;10858305;10847580;9756848;9409622;9393982;8439294;8045264;2480877;22213094;19535458;21145461;21319273;15975576;19339282;19809274;19812236;19874820;19144721;20932480;20936779;20605917;15790595;18689799;22939629;18042045;17803295;21499250;21144806;16055720;16159877;21106524;20371701;20508642;20811636;19135240;19928837;16196087;20421735;21566083;22156371;15848144;18457437;19596686;19850743;20360068;21081666;19471022;22145905;18239623;21252943;12938929;18781797;20639865;21139048;21693764;21890473;21906983;21987572;22178446;21881826;22114566;17361185;19322201;21628590;21670149;22558197;17620599;19542561;22318606;22446626;22586326;15576338;19380743;22174317;22268729;16417406;23158102;23314748 6421 H0Y9K7;H0Y9U2;P23246;Q86VG2 ABBA01023352;AK307985;AL590434;AL831889;AL833670;AMYH01000488;BC000546;BC004534;BC027708;BC027717;BC051192;BX537811;CH471059;NM_005066;X16850;X70944 AAH04534;AAH27708;AAH51192;CAA34747;CAA50283;EAX07421;EAX07422;EAX07423;EAX07424;EAX07425;EAX07426;NP_005057;P23246 Hs.355934;Hs.611911 1651261;1791284;2117178;2120746;2145886;2154225 MARC_9965-9966:996688719:1;RH18090;RH78190;SHGC-30279;SHGC-74566;WI-7518 DKFZp547C228;DKFZp667K0521;DKFZp686K1282;POMP100;PSF 100 kDa DNA-pairing protein;DNA-binding p52/p100 complex, 100 kDa subunit;OTTHUMP00000004329;PTB-associated splicing factor;PTB-associated-splicing factor;hPOMp100;polypyrimidine tract binding protein associated;polypyrimidine tract-binding protein-associated splicing factor;polypyrimidine tract-binding protein-associated-splicing factor;splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated);splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated);splicing factor, proline- and glutamine-rich APPROVED protein-coding ENSG00000116560 10774 07284 605199 VALIDATED 1350997 SFRP4 secreted frizzled-related protein 4 Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008] 7 7 p14.1 37912068 37922902 - 37945534 37956525 - 4107721;6480464;6907045 20528676 22608881;10211996;19562778;19480240;19453261;19396169;19299079;19146776;19040566;18945944;18938133;18592156;18528941;18079202;17476687;16609023;16356838;16151791;15705870;15489334;14760084;14517837;12952927;12477932;10728394;9409757;9096311;15607035;20613673;19730886;20403915;20596629;18166153;20811686;20030932;22668815;21307090;21576276;11793365;21858178;21732829;22363760;23140642;23326605;23035359 6424 C9JMJ2;Q6FHJ7 AACC02000036;ABBA01056921;ABBA01056922;AC018634;AF026692;AK302357;AK303977;AK313029;AMYH01017188;BC032828;BC047684;BC058911;BT019679;CH236951;CH471073;CR541731;CR541755;DQ420628;NM_003014 AAC04617;AAH47684;AAH58911;AAV38485;ABD83351;BAG63683;BAG64896;CAG46532;CAG46555;EAL23981;EAW94085;NP_003005;Q6FHJ7 Hs.658169 1796756 SFRP4_1609 FRP-4;FRPHE;MGC26498;sFRP-4 OTTHUMP00000128365;frizzled protein, human endometrium;sFRP-4;secreted frizzled-related protein 4;secreted frizzled-related protein 4; secreted frizzled-related protein 4 APPROVED protein-coding ENSG00000106483 10778 07357 606570 REVIEWED 1312773 SFSWAP splicing factor, suppressor of white-apricot homolog (Drosophila) This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012] 12 12 12 q24.33 131812182 131900934 + 130761588 130850235 + 132195632 132284283 + 1580863;6480464 17353931;8940107;17081983;15302935;12477932;8206918;21145461;16738036;20379614;21555454 6433 F5H1A5;F5H5X1;H0YFR9;Q12872;Q8IV81 AA410512;AB208921;ABBA01032805;ABBA01032806;AC117500;AC131009;AMYH01004895;BC008707;BC015953;BC024041;BC113420;BC136678;BC142980;BC144364;BM454299;CH471054;DB468124;NM_001261411;NM_004592;U08377 AAA19604;AAH08707;AAH15953;AAH24041;AAI36679;AAI42981;AAI44365;BAD92158;EAW98526;EAW98527;NP_001248340;NP_004583;Q12872 Hs.308171 1680337;1686506;1707180;1774777;1779300 RH80585;RH91231;SHGC-153300;SHGC-79174;STS-N20163 MGC167082;SFRS8;SWAP OTTHUMP00000238562;OTTHUMP00000238565;splicing factor, arginine/serine-rich 8;splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila);splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog);splicing factor, suppressor of white-apricot homolog;suppressor of white apricot protein homolog APPROVED protein-coding ENSG00000061936 10790 09055 601945 REVIEWED 1344361 SFTA1P surfactant associated 1, pseudogene 10 10 p14 10754762 10765237 - 10826402 10836877 - 6480464 23064961 207107 ABBA01034700;AL136452;AMYH01002023;AY102069;NR_027082 Hs.31562 1672093 D10S2393 SFTPF APPROVED pseudo ENSG00000225383 18383 PROVISIONAL 1321235 SFRP5 secreted frizzled-related protein 5 Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008] 10 10 q24.1 99516508 99521760 - 99526508 99531756 - 6480464;6907045 19957335;10072424;9391078;19299079;18795670;18592156;18528941;18497987;18356147;16609023;15489334;15164054;12477932;9642118;9096311;19586554;19926868;20795789;20811686;18981481;21830441;23054609;23185036;23009178;22384249 6425 Q5T4F7 ABBA01021789;ABBA01021790;AF017988;AF117758;AL358938;AMYH01002979;BC050435;CH471066;NM_003015 AAB70794;AAD25052;AAH50435;EAW49894;NP_003006;Q5T4F7 Hs.279565 1685528;1796758;5492281 RH71469;SFRP5_819;Sfrp5 SARP3 FRP-1b;OTTHUMP00000020227;SARP-3;frizzled-related protein 1b;sFRP-5;secreted apoptosis related protein 3;secreted apoptosis-related protein 3;secreted frizzled-related protein 5 APPROVED protein-coding ENSG00000120057 10779 09166 604158 REVIEWED 1345643 SFRP2 secreted frizzled-related protein 2 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008] 4 4 q31.3 154921192 154929678 - 154701742 154710228 - 4107088;6480464;6907045 22246241;18029348;19458075;19453261;19299079;19095296;18990230;18795670;18592156;18528941;18497987;18404682;18079202;17848950;17639423;17410438;17352030;17081983;16609023;16407829;16303743;15489334;15340161;15146197;15094274;14709558;14702039;14561758;12975309;12477932;10654605;10072424;9853965;9642118;9391078;9096311;10980594;20501806;20723538;21463549;19389651;19513569;19593212;19926868;19946729;20208569;20403915;20795789;20596629;20602801;12055200;17471511;20682398;20811686;21174795;20686305;20030932;21490961;22363119;21709714;21409489;22136354;22175903;22915211;23226515 6423 B3KSM5;Q96HF1 AA449032;ABBA01070144;AC020703;AF017986;AF311912;AK075372;AK093922;AMYH01014629;AY359001;BC008666;BM906663;BM924815;BQ130455;CH471056;CN431016;HB436341;NM_003013 AAB70792;AAG24923;AAH08666;AAQ89360;BAG52124;BAG52787;CAZ76869;EAX04949;NP_003004;Q96HF1 Hs.481022 2108909;2120308;2162721 SFRP2_3264.2;SHGC-68208;STS-W72225 FRP-2;SARP1;SDF-5 OTTHUMP00000220373;SARP-1;sFRP-2;secreted apoptosis related protein 1;secreted apoptosis-related protein 1;secreted frizzled-related protein 2 APPROVED protein-coding ENSG00000145423 10777 16041 604157 REVIEWED 735754 SFRP1 secreted frizzled-related protein 1 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009] 8 8 p11.21 41238635 41286137 - 41119476 41166990 - 2301712;2298808;4107084;6480464;6907045 15123780;15972578;20420713 11741940;20353273;9192640;9391078;19569235;19543515;19453261;19299079;19277043;19118898;19095296;19053830;18949430;18941195;18795670;18774388;18706212;18639284;18592156;18528941;18497987;18371946;18274669;18156211;18035687;17699851;17626620;17544413;17500071;17485441;17471511;17465504;17443492;17353908;17035233;16775427;16609023;16532032;16523202;16449975;16423993;16410723;16410684;16407829;16328026;16288033;16149051;16007200;15886250;15677765;15489334;15335268;15235574;14871816;14581477;12477932;12413893;11932307;11593386;10660608;10347172;9724099;9096311;12925876;9403839;8922468;7561057;9138296;11287180;18787224;19734317;10980594;19254787;19778523;12055200;20685720;20856206;20471677;16149501;17994217;19072540;20162454;20596629;19737074;15146197;16344560;19473496;19565266;19690140;19702942;19723665;19730886;20208569;20595636;20811686;22576962;22927647;21830441;20848536;21046672;20823417;21402050;20030932;21344486;22351518;23449484;21567192;22031861;22178351;22296502;22246241;21382349;21988832;23159077;1927703 6422 Q6ZSL4;Q8N474 ABBA01021127;ABBA01021128;AC104393;AF001900;AF017987;AF056087;AF229192;AK127331;AK293090;AL049995;AMYH01018668;AMYH01018669;BC004466;BC036503;BQ002015;CB956696;CH471080;CN271890;DA571541;NM_003012 AAB61576;AAB70793;AAC12877;AAH04466;AAH36503;AAK00753;BAC86934;BAF85779;EAW63260;EAW63261;NP_003003;Q8N474 Hs.213424 1694554;1696212;1751423;1798148;2133853;2133855;2153835 A002C42;G19941;G43220;RH12508;SFRP1_1897;SHGC-105250;SHGC-79057 FRP;FRP-1;FRP1;FrzA;SARP2 OTTHUMP00000225802;SARP-2;sFRP-1;secreted apoptosis-related protein 2;secreted frizzled-related protein 1 APPROVED protein-coding ENSG00000104332 10776 09165 604156 REVIEWED 1343304 SFT2D1 SFT2 domain containing 1 6 6 6 q27 167472881 167495356 - 166653506 166675981 - 166733516 166755991 - 6480464 15489334;14574404;12477932;21139048 113402 Q4G178;Q8WV19 ABBA01033445;AF041429;AL022069;AL121956;AMYH01016848;BC018969;BC028388;CH471051;CS072430;NM_145169 AAF18564;AAH18969;AAH28388;CAI93568;EAW47533;EAW47534;EAW47535;NP_660152;Q8WV19 Hs.487143 2149095 AL022460 C6orf83;MGC19825;pRGR1 OTTHUMP00000017595;SFT2 domain-containing protein 1;chromosome 6 open reading frame 83;vesicle transport protein SFT2A protein-coding 21102 12903 PROVISIONAL 1351946 SFTPA3P surfactant protein A3, pseudogene 10 10 q22.3 74640137 74640583 - 81353703 81355415 - 1827027;1827027 100288405 ABBA01020206;AMYH01002862;BX248123;NG_016155 COLEC6;SFTPAP1;SFTPP1 APPROVED pseudo 10800 INFERRED 1351266 SFTA3 surfactant associated 3 14 14 14 q13.3 16806141 16846536 - 36012244 36052741 - 36942493 36982990 - 12477932;11181995;19913121;20628086 253970 E5RG42;G5EA12;P0C7M3 ABBA01061526;AK027147;AL132857;AMYH01005673;AMYH01005674;AY102071;BC042093;BC129834;CH471078;NM_001101341 EAW65860;EAW65861;NP_001094811;P0C7M3 Hs.509165 1668982;1719897 G31514;RH123642 FLJ23494;SFTPH OTTHUMP00000225286;OTTHUMP00000225287;putative protein SFTA3;surfactant associated protein H;surfactant-associated protein 3;surfactant-associated protein H protein-coding ENSG00000229415 18387 PROVISIONAL 1603003 SFT2D3 SFT2 domain containing 3 2 2 2 q14.3 121769540 121772350 + 128175067 128177877 + 128458597 128461407 + 6480464 16303743;15815621;12477932;8889548;21906983 84826 Q587I9 ABBA01040199;AC006011;AK074549;AMYH01011020;AMYH01011021;AW058154;BC006808;BC063637;BC110324;BU074308;BU736338;CB990183;CH471103;NM_032740 AAX82032;BAC11053;EAW95340;EAW95341;NP_116129;Q587I9 Hs.345849;Hs.700855 1660674;1699402;1770497;2167764 A007E21;RH103292;RH68071;SHGC-64108 MGC5391 OTTHUMP00000162267;SFT2 domain-containing protein 3;vesicle transport protein SFT2C protein-coding ENSG00000173349 28767 14683 VALIDATED 1347220 SFTA2 surfactant associated 2 6 6 6 p21.33 32497235 32498060 - 31007106 31007931 - 30899127 30899952 - 6480464 15489334;15340161;12975309;12477932;8889549;19851445;23094088;22768197 389376 Q6UW10 ABBA01038067;AI857998;AL662854;AL669830;AL773541;AMYH01016207;AY102070;AY359057;BC039677;BX927194;CH471081;CR759747;CR936875;NM_205854;T94049 AAH39677;AAQ89416;EAX03350;NP_995326;Q6UW10 Hs.211267 2126428 D6S2088 GSGL541;SFTPG;UNQ541 OTTHUMP00000165038;surfactant associated protein G;surfactant-associated protein 2;surfactant-associated protein G APPROVED protein-coding ENSG00000196260 18386 18265 VALIDATED 1353854 SFTPI surfactant, pulmonary associated protein I 207111 18388 1343041 SFTPJ surfactant, pulmonary associated protein J 207112 18389 1605217 SFT2D2 SFT2 domain containing 2 1 1 1 q24.2 141304278 141321113 + 166461870 166479002 + 168195255 168212088 + 6480464 19064610;16710414;15489334;14702039;12975309;12477932;19536175;17207965;21139048;21890473;21906983 375035 O95562;Q5TIH2 ABBA01047231;AK290325;AL009051;AL035297;AMYH01001486;AY358675;BC068098;CH471067;NM_199344 AAH68098;AAQ89038;ADQ32037;BAF83014;CAA22897;EAW90822;NP_955376;O95562 Hs.645435 1684656;1854467;2164998;5019843 A010B09;G33068;RH70401;RH77792 FLJ34085;RP4-747L4.1;UNQ512;dJ747L4.C1.2 OTTHUMP00000032584;SFT2 domain-containing protein 2;vesicle transport protein SFT2B protein-coding 25140 14192 VALIDATED 1346707 SFTPA2 surfactant protein A2 This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009] 10 10 q22.3 80985614 80990169 - 81315608 81320163 - 1578322;4143445;6480464;6484113;7240710 10762543;9475280 19543369;19392648;19100526;18983439;18828058;18487360;17580966;16489761;16406431;15489334;15164054;12477932;8125298;3755136;2610270;1372511;20963503;10781424;11087951;16385451;1986781;19914637;20048345;20448439;9476117;20466729;20693318;23223528;23525782;21601013;21840962;20301408;23038062;23056344 729238 E3VLC9;R4GMN3 ABBA01020206;AK225599;AK298041;AK298074;AK298114;AK313179;AK316192;AMYH01002862;BC111571;BC139727;BC157866;BC157890;BX248123;HQ021421;HQ021422;HQ021423;HQ021424;HQ021425;HQ021426;HQ021427;HQ021428;HQ021429;HQ021430;HQ021431;HQ021432;K03475;NG_013046;NM_001098668 AAA36520;AAI11572;AAI39728;AAI57867;AAI57891;ADO27664;ADO27665;ADO27666;ADO27667;ADO27668;ADO27669;ADO27670;ADO27671;ADO27672;ADO27673;ADO27674;ADO27675;BAG35996;BAH12710;BAH12720;BAH12725;BAH14563;NP_001092138;Q8IWL1 Hs.523084 1796760;1796762;2137304;5113411;5125944 D10S2286;RH75329;SFTPA1;SFTPA2_1327;SFTPA2_821 COLEC5;FLJ50594;FLJ50597;FLJ51953;FLJ79091;FLJ93678;MGC133169;MGC133366;MGC189714;MGC189761;PSAP;PSP-A;PSPA;SFTP1;SFTPA2B;SP-A;SPA2;SPAII 35 kDa pulmonary surfactant-associated protein;OTTHUMP00000019932;OTTHUMP00000019933;PSP-A;PSPA;SP-A;alveolar proteinosis protein;collectin 5;collectin-5;pulmonary surfactant-associated protein A2;surfactant protein A2 variant ABD 1A;surfactant protein A2 variant ABD 1A0;surfactant protein A2 variant ABD 1A1;surfactant protein A2 variant ABD 1A2;surfactant protein A2 variant ABD 1A3;surfactant protein A2 variant ABD 1A5;surfactant protein A2 variant ABD' 1A;surfactant protein A2 variant ABD' 1A0;surfactant protein A2 variant ABD' 1A1;surfactant protein A2 variant ABD' 1A2;surfactant protein A2 variant ABD' 1A3;surfactant protein A2 variant ABD' 1A5;surfactant, pulmonary-associated protein A2A APPROVED protein-coding ENSG00000185303 10799 178500;178642 REVIEWED 736369 SFTPA1 surfactant protein A1 This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 10 10 q22.3 81040722 81045208 + 81370695 81375199 + 1578322;4143394;4143411;4143436;4143451;4143433;4143462;4143437;4143403;4143409;4143431;4143449;4143452;4143379;4143407;4143439;4143423;4143384;4143429;4143489;4143428;4143450;4144873;4144870;4144874;4143446;4143281;4144876;4143472;4143506;4144871;4144875;4143495;4143505;4144872;4143430;4143464;4143453;4143516;4143288;4143289;4143398;4143387;4143454;4143448;6480464;6484113;7240710 10762543;15967375;12612307;10588595;8569184;11063734;16629790;10543276;15271694;13680361;11385364;9216212;8542113;17662121;14748931;10194154;11589345;17264398;11472975;20413160;11504697;8652189;17407567;19347046;16292672;9374572;19797132;11105614;15136884;17599561;16429424;12476938;19287351;16162765;11445799;12169586;7590701;18802356;18959437;18926058;15816355;16620381;7654386;9230741 15696492;11181995;22201752;2995821;19392648;19378784;19264843;19181744;18983439;18828058;18710635;18595202;18554451;18523248;18463356;18443188;18285549;18022079;17905854;17874049;17848554;17580966;17128993;22418431;15489334;15164054;14702039;12477932;9813381;3755136;2610270;10101009;20540853;20693318;20864512;20963503;20708093;10781424;11087951;11149893;11174628;11245991;11714829;11724772;11751208;11807709;12040027;12055204;12244146;12244199;12421966;12437362;12505869;12654642;12654643;12743564;12750409;12777246;12794007;12817025;12842807;12846554;1372511;14531999;14617519;14633512;14720435;14751851;15026426;15075250;15102713;15145932;15216431;15274124;15308505;15377498;15608147;15615713;1577827;15845487;15890661;15894557;15932345;15996209;16061856;16081790;16114131;16330552;16344560;16385451;16581766;16754682;16827183;16884531;16889547;17083016;17220308;17293378;17311505;17343789;17524024;18251786;1935736;1986781;20048345;20056602;20233942;20448439;2884868;8226864;8354874;8360162;8406480;8494055;8663107;9204768;9294011;21159752;21203987;21251160;21270323;19894557;21402781;21435274;20873544;23406594;21601013;22672628;21784968;22384248;20301408;22884059;23038062;23031213;18566427 653509 B4DNP6;B4DNW5;J3KPA7;P07714 ABBA01020206;AK290703;AK298002;AK298029;AK298034;AK298092;AK309518;AK316196;AMYH01002862;AY198391;BC026229;BC029913;BC111570;BC171875;BI820937;BM996243;BX248123;CH471083;DA588383;HQ021433;HQ021434;HQ021435;HQ021436;HQ021437;HQ021438;HQ021439;HQ021440;HQ021441;HQ021442;JX502764;JX502765;NG_021189;NM_001093770;NM_001164644;NM_001164645;NM_001164646;NM_001164647;NM_005411 AAH29913;AAI11571;AAI71875;AAO13486;ADO27676;ADO27677;ADO27678;ADO27679;ADO27680;ADO27681;ADO27682;ADO27683;ADO27684;ADO27685;AFV36787;AFV36788;BAF83392;BAG60308;BAG60331;BAG60335;BAG60377;BAH14567;EAW54657;EAW54658;EAW54659;EAW54660;NP_001087239;NP_001158116;NP_001158117;NP_001158118;NP_001158119;NP_005402;Q8IWL2 Hs.535295;Hs.745476 1681823;1742253;1743165;1770055;2186778;5113411;5125944 GDB:193873;GDB:278158;RH17690;RH75329;RH93200;SFTPA1;STS-T63485 COLEC4;FLJ50593;FLJ51913;FLJ61144;FLJ77898;FLJ79095;FLJ99559;MGC133365;MGC198590;PSAP;PSP-A;PSPA;SFTP1;SFTPA1B;SP-A;SP-A1;SPA;SPA1 35 kDa pulmonary surfactant-associated protein;OTTHUMP00000019928;OTTHUMP00000019929;OTTHUMP00000019930;OTTHUMP00000019931;alveolar proteinosis protein;collectin-4;pulmonary surfactant-associated protein A1;surfactant protein A1 variant AB'D' 6A;surfactant protein A1 variant AB'D' 6A2;surfactant protein A1 variant AB'D' 6A3;surfactant protein A1 variant AB'D' 6A4;surfactant protein A1 variant ACD' 6A;surfactant protein A1 variant ACD' 6A2;surfactant protein A1 variant ACD' 6A3;surfactant protein A1 variant ACD' 6A4;surfactant protein A1 variant AD' 6A;surfactant protein A1 variant AD' 6A2;surfactant protein A1 variant AD' 6A3;surfactant protein A1 variant AD' 6A4;surfactant protein A1B;surfactant, pulmonary-associated protein A1A;surfactant, pulmonary-associated protein A1B APPROVED protein-coding ENSG00000122852 10798 178500;178630 REVIEWED 737197 SFTPB surfactant protein B This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010] 2 2 p12-p11.2 85737951 85748823 - 85884440 85895864 - 1624152;1580863;4143377;4143412;4143416;4143433;4143286;4143289;4143403;4143409;4143410;4143423;4143429;4143411;4143431;4143379;4143414;4143439;4143418;4143384;4143428;4143404;4143465;4143463;4143446;4143462;4143290;4143408;4143430;4143438;4143464;4143447;4143448;4143460;4143472;4143451;4143287;4143402;4143407;4143381;4143382;4143389;4143392;4143393;4143396;4143398;4143376;4143390;4143394;4143399;4143405;4143454;4143455;6480464;7240710 8163685;18263595;12594064;12490037;11063734;19201882;18926058;15271694;13680361;12639841;11589345;11472975;12612307;11385364;17662121;12515908;10194154;12424586;17264398;11504697;15190959;11472974;16274485;9374572;16629790;18550614;14718442;11445799;10502556;12169586;9351625;9230741;1622844;15136884;8569184;19099817;15315329;14748931;17507829;17498296;16570259;16042774;16024721;15817713;15816355;18353230;16309574;15967375;15790974;15102713;7654386;7832777 10378403;19393186;19348329;19336370;19258923;19132247;19131640;19111454;19017876;18828060;18828058;18797948;18776725;18679120;18558554;18405368;18317237;18256027;17703412;17690329;17597650;17581675;17540055;17209137;17071721;16971405;16809635;16630564;16549540;16500948;16461352;16456143;16333843;16214863;16211553;16183668;16100012;15790313;15695595;15654742;15568810;15496605;15489334;15049696;14977415;14766755;14720435;14569193;13129928;12972403;12896877;12829715;12784301;12573987;12483294;12477932;12356334;12161428;12107845;11788590;11699576;11699574;11076040;10798379;10722708;10571948;9793979;7956367;7644495;3597440;3343343;3035561;2924687;2475034;1606172;1568474;1415726;1346779;20693256;20650982;17207965;19220077;19808337;19833825;20005435;20233420;20503287;20525719;21429235;21283003;23406594;21817103;21736957;22289747;21180884;22201752;23272120;23330012;21128671 6439 D6W5L6;H0Y7V6;H0YB57;P07988 AB439563;AB439565;ABBA01075766;AC012454;AF400074;AK303817;AK314947;AL548140;AMYH01010497;AW204600;BC032785;BG482852;BI821350;BM989941;CA435153;CA437348;CA439044;CH471053;CS123915;DQ317589;J02761;M16764;M19097;M24461;NG_016967;NM_000542;NM_198843 AAA36628;AAA60212;AAA88099;AAB59541;AAH32785;AAK77913;ABC59511;ADQ32344;BAG37452;BAG64767;CAJ18771;EAW99487;EAW99488;EAW99489;NP_000533;NP_942140;P07988 Hs.512690 1644430;1666501;1685568;1741275;1744751;1796764;2172168;5109281;5118444 D11S3316;D1S1425;D2S2579;D2S2612;GDB:180296;GDB:555915;RH69695;RH98252;SFTPB_1556 PSP-B;SFTB3;SFTP3;SMDP1;SP-B 18 kDa pulmonary-surfactant protein;6 kDa protein;OTTHUMP00000160684;OTTHUMP00000203252;OTTHUMP00000203253;pulmonary surfactant-associated protein B;pulmonary surfactant-associated proteolipid SPL(Phe) APPROVED protein-coding ENSG00000168878 10801 01523 178640;265120 REVIEWED 736728 SFTPC surfactant protein C This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010] 8 8 p21 22075129 22077937 + 22019184 22021992 + 1624153;1580863;4143431;4143420;4143400;4143403;4143413;4143379;4143428;4143444;4143464;4144063;4144116;4143462;4143465;4144126;4144060;4144062;4144117;4144115;4144124;4144127;4144114;4143429;4143430;4144065;4143451;4143407;4144159;4143394;4144064;4143399;6480464;7240710 11207353;11385364;11796659;15756222;15271694;12519727;17662121;11504697;9655740;12169586;19910179;17121584;16629790;11472974;16423270;20656946;20560845;16910460;18038590;16251411;7537464;18566429;11472975;11445799;19304906;8569184;14748931;9720777;15967375;19443464;15790974 3366248;17264398;17051367;17005585;16709565;16631109;16630564;16613858;16449190;16042774;15927881;15778495;15647591;15516475;15496605;15489334;15293602;15153097;15133475;15102713;15049696;15039969;14977415;14735158;14525980;13817571;13680361;12933801;12477932;12034564;11991887;11907042;11893657;11802797;11699576;11699575;11699574;11344267;8181452;7713515;5942662;3479771;19472327;19376131;19366705;19281242;19258923;19148933;18643778;18612544;18405368;18400946;18390830;18383112;18317237;18239190;18199284;17703412;17597647;17586700;22458263;3335510;2839484;2383558;2326260;1859376;20403820;19220077;19735006;19815549;20237496;20371530;20503287;20539253;20658481;20054353;20301408;21092132;20463293;23505323;23406594;21169555;21248320;21310059;21707890;21828032;21165348;21542803 6440 C9JYF6;E5RG20;E5RG93;E5RHW5;E5RI64;E5RI92;P11686 ABBA01005506;AC105206;AK058094;AK298119;AK315742;AMYH01018565;AY090568;AY337315;AY357924;BC005913;BC105594;BM993053;BQ027183;CH471080;CS123922;DB537043;DQ884411;J03517;J03553;J03890;NG_016968;NG_029659;NM_001172357;NM_001172410;NM_003018;U02948 AAA36631;AAA36634;AAB60332;AAC32022;AAC32023;AAH05913;AAP88034;AAQ67734;ABI63378;ADZ15954;BAG38097;BAG60401;CAJ18780;EAW63705;EAW63706;EAW63707;NP_001165828;NP_001165881;NP_003009;P11686 Hs.1074 1725833;2113882;2137518;2153216;2155247 G62003;RH66510;RH78298;SFTPC;WIAF-1622 BRICD6;PSP-C;SFTP2;SMDP2;SP-C BRICHOS domain containing 6;OTTHUMP00000224820;OTTHUMP00000224821;OTTHUMP00000224822;OTTHUMP00000224824;OTTHUMP00000224825;OTTHUMP00000224826;SP5;pulmonary surfactant apoprotein-2 SP-C;pulmonary surfactant-associated protein C;pulmonary surfactant-associated proteolipid SPL(Val) APPROVED protein-coding ENSG00000168484 10802 01520 178620;610913 REVIEWED 735702 SFTPD surfactant protein D 10 10 q22.2-q23.1 81687476 81698841 - 81697496 81708861 - 1580863;4143431;4143461;4143286;4143436;4143449;4143429;4143439;4143505;4143507;4143384;4143465;4143486;4143489;4143493;4143497;4143503;4144051;4143487;4143490;4143491;4143492;4143428;4143462;4143508;4143518;4143499;4143500;4143502;4143504;4143506;4143488;4143519;4143501;4143256;4143495;4143496;4143464;4144056;4143494;4143516;4143517;4143498;4143407;4143385;4143394;4143520;4143281;6480464;6484113 11385364;16849999;19201882;10588595;9216212;11472975;10194154;17524024;17264398;11472974;20459699;20413160;19833760;19046553;17974096;12882759;20448057;20401612;20151281;20075511;11504697;16629790;16839409;16787926;18635887;18347569;18211966;17925426;17599561;20435656;16255775;18310480;20639460;19287351;19286849;12169586;10666121;19493231;18802356;18266831;18779194;14748931;17158597;15967375;19741068;19797132 15711012;8630261;9751757;10485905;19439011;19378784;19348329;19340882;19336370;19275746;19258923;19249874;19140875;19017984;18991397;18990700;18983439;18811961;18785967;18676680;18657106;18498293;18359891;18355911;18302538;18251786;18226251;18191856;18092821;18052966;17999785;17874049;17848554;17703412;17693780;17567900;17209137;17083016;16889547;16834340;16709857;16636058;16514117;16426259;16406431;16361352;16114131;16061223;15951332;15700120;15661913;15608147;15489334;15274124;15244040;15173172;15164054;15145932;15123664;15102713;15067073;13680361;12888356;12853121;12753670;12730206;12654779;12654643;12479105;12477932;12244199;12218146;12218102;12032263;11967276;11916969;11912209;11854236;11278637;10820266;10542261;10368295;9777404;9153228;8889548;8428971;8424457;8406480;8226864;8006040;1932100;1898081;1400434;1339284;16227233;10101009;19913121;20628086;20799037;20601494;20683434;20560296;12884308;16385451;19164344;19170196;19478465;19540617;19577304;19590686;19625176;19684355;19692168;19799916;20056602;20086254;20205699;20207732;20211020;20228064;20237496;20453000;20457545;20503287;21171185;20360592;21821801;21204009;21396106;21489996;21233593;21560203;22509983;23406594;21934714;21678446;21601013;21790524;21310059;21828236;21858107;23052388;23244171;22289856;20512337;22288595;21960125;22511785;22860023;22846212;23435141;23012359;23144326 6441 P35247;Q5T0M2 ABBA01003818;AF034862;AL512662;AMYH01002881;AY216721;BC022318;BI820265;BM985387;CH471142;CR541948;L05483;L05485;NM_003019;X65018 AAB59450;AAH22318;AAO22991;CAA46152;CAG46746;EAW80419;EAW80420;EAW80421;NP_003010;P35247 Hs.253495 1742935;1770812;1791842;2137139;2217970 D10S2423;GDB:216194;PMC127735P1;SFTPD_2859;STS-X65018 COLEC7;PSP-D;SFTP4;SP-D OTTHUMP00000019944;collectin 7;collectin-7;lung surfactant protein D;pulmonary surfactant apoprotein;pulmonary surfactant-associated protein D;surfactant, pulmonary-associated protein D;surfactant-associated protein, pulmonary 4 protein-coding ENSG00000133661 10803 01522 178635 VALIDATED 1314569 SFXN2 sideroflexin 2 10 10 10 q24.32 98215360 98240001 + 104464288 104488933 + 104474298 104498946 + 6480464 15489334;14702039;12670026;12477932;16385451;19915575;20877624;21139048;21890473;22939629;22505724 118980 Q5JSM6;Q96NB2;R4GMR9;R4GMS6;R4GMW0;R4GMX4;R4GN63;R4GN74;R4GNC2 ABBA01063136;ABBA01063137;AF462052;AK055711;AK308246;AL391121;AMYH01003020;BC022091;CH471066;NM_178858 AAH22091;AAM09645;ABM83782;ABM87102;BAB70993;EAW49675;EAW49676;EAW49677;NP_849189;Q96NB2 Hs.44070 1697680;5037552;5109281 D1S1425;D8S2279;RH102356 OTTHUMP00000020380;sideroflexin-2 protein-coding ENSG00000156398 16086 18045 VALIDATED 1345797 SFXN3 sideroflexin 3 10 10 10 q24.31 96528732 96538734 + 102780986 102790988 + 102790996 102800998 + 1580863;6480464 16303743;14702039;12477932;17207965;18029348;20877624;22939629;19322201;21139048;21890473;17110338;23464991 81855 Q9BWM7 ABBA01063208;ABBA01063209;AK074707;AK093011;AK299405;AL133215;AL701236;AMYH01003003;BC000124;BG698800;BG773593;BG775086;BI819328;CH471066;CQ783611;NM_030971 AAH00124;ADQ31902;BAC11151;BAG61388;CAF86775;EAW49787;NP_112233;Q9BWM7 Hs.283844 1736062;1768848;2131913;2168967;2168969;2179212 A006J02;D10S1322E;D10S1338E;G20861;RH47518;RH78949 BA108L7.2;SFX3 OTTHUMP00000020311;sideroflexin-3 protein-coding ENSG00000107819 16087 15329 VALIDATED 1317616 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 17 17 q21 45598390 45608288 + 48243366 48253293 + 1599344;1599345;1580863;6480464;6907045;7240710 9192266;8069911 7663524;7937874;18996010;18078839;16883602;15954112;15489334;15298081;12477932;11747090;10993904;10767327;10684260;9864373;9585331;9032047;8681137;8528203;8226900;7744812;7657792;20019182;21031578;21361872;21656825;21856579;21884196;22303798 6442 B7Z1L1;D6R9S3;D6RAA4;E9PCT8;F5GZD3;H0Y8T1;H0YAB9;H7C5V0;Q16586 ABBA01041229;ABBA01041230;ABBA01041231;AC015909;AK290622;AK300710;AMYH01008471;BC025702;CH471109;F25770;L34355;L35853;L46810;NG_008889;NM_000023;NM_001135697;U08895 AAA35510;AAA50461;AAA81637;AAC37583;AAH25702;ABM84703;BAF83311;BAH13330;EAW94634;EAW94635;NP_000014;NP_001129169;Q16586 Hs.463412 1666753;1733774;1851240 D17S1319;G10719;STS-L34355 50-DAG;A2;ADL;DAG2;DMDA2;LGMD2D;SCARMD1;adhalin 50 kDa dystrophin-associated glycoprotein;50DAG;50kD DAG;OTTHUMP00000221051;OTTHUMP00000221052;OTTHUMP00000221053;OTTHUMP00000221059;alpha-SG;alpha-sarcoglycan;dystroglycan-2 APPROVED protein-coding ENSG00000108823 10805 02525 600119;608099 REVIEWED 1318276 SFXN1 sideroflexin 1 5 5 5 170944525 170994642 + 174838189 174888218 + 174905514 174955621 + 1580863;6480464 17353931;16381901;16344560;15589833;15489336;15489334;15060089;14702039;14634051;12477932;12150972;11722557;11274051;11230166;11076863;8889548;8132490;21145461;20562859;18029348;20877624;22939629;19322201;16196087;20186120;21081666;21139048;21890473;21906983 94081 D6RAE9;D6RDG7;D6RFI0;H0Y9J5;Q9H9B4 ABBA01043992;ABBA01043993;AC091393;AF327346;AK022287;AK022938;AK025032;AK056915;AMYH01015837;AMYH01015838;BC020517;BC063241;BU689165;BX648188;CH471062;DA753705;NM_022754 AAH20517;AAH63241;AAL56007;BAB14003;BAB14318;BAG51825;CAL38720;EAW61370;EAW61371;EAW61372;EAW61373;EAW61374;EAW61375;NP_073591;Q9H9B4 Hs.369440 1340249;1670253;1698014;1761715;1764947;2182778;2186228;5015621;5015861;5037552;7185938 D10S16;D11S3732;D5S2034;D8S2279;RH102536;RH68876;SHGC-145688;SHGC-148498;WI-11328;WI-16996 FLJ12876 OTTHUMP00000161114;TCC;sideroflexin-1;tricarboxylate carrier protein protein-coding 16085 18044 VALIDATED 1343188 SFXN5 sideroflexin 5 2 2 2 73020012 73149807 - 73022673 73152473 - 73169165 73298965 - 1580863;6480464 15815621;15489334;14702039;12477932;12150972;12039050;20877624 94097 B8ZZJ6;C9JIV5;F8WBH6;H7C1S9;Q8TD22 ABBA01075574;ABBA01075575;ABBA01075576;AC012366;AK024193;AK025170;AK094205;AK289731;AK294751;AK295637;AK307116;AK308863;AK309091;AK314770;AK315861;AL833454;AMYH01010435;AMYH01010436;AY044437;BC013233;BC018640;BC046630;BC101311;BC101312;BC101313;CH471053;NM_144579 AAI01312;AAI01313;AAI01314;AAK95826;AAY14745;BAF82420;BAF98752;BAG57890;BAG58510;EAW99752;EAW99753;EAW99754;NP_653180;Q8TD22 Hs.368171 1655188;1720053;2126365;2134650;2134652;2180426;5015619;5015861;5022578;5022651;5037552;5109281;7185938 A001Z27;A006O05;D10S16;D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;G19820;RH123823;RH78075;WI-14605 BBG-TCC;MGC120413;MGC120415 OTTHUMP00000160197;OTTHUMP00000202290;OTTHUMP00000202293;OTTHUMP00000203040;sideroflexin-5 protein-coding ENSG00000144040 16073 18047 VALIDATED 1314503 SFXN4 sideroflexin 4 10 10 10 q26.11 114629997 114654783 - 120890415 120915194 - 120900425 120925204 - 6480464 15489334;15164054;14756423;14702039;12477932;8889548;20562859;17207965;20877624;16385451;19615732;20237496;18029348;21139048;21890473;21906983 119559 B1AMV7;B1AMV8;E9PGB5;Q6P4A7 AA401250;ABBA01062907;ABBA01062908;AF336980;AK095295;AL355598;AL355861;AMYH01003111;AW249181;AY269785;BC050475;BC063562;BQ009818;CB306697;CH471066;H12949;NM_213649 AAH63562;AAP23066;AAP97074;ADQ32544;BAC04525;EAW49400;EAW49401;EAW49402;EAW49403;EAW49404;NP_998814;Q6P4A7 Hs.655168 1754437;2166892 SHGC-132513;SHGC-34017 BCRM1 OTTHUMP00000020591;breast cancer resistance marker 1;sideroflexin-4 protein-coding ENSG00000183605 16088 18046 VALIDATED 1352882 SGCE sarcoglycan, epsilon This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 7 7 q21.3 94052472 94123457 - 94214536 94285521 - 1580863;6480464;7240710 9405466;9475163;19117362;19066193;18852357;18702114;18651096;18581468;18362280;18355305;18349702;18205193;18175340;18162078;18098280;17898012;17702043;17702041;17394247;17394244;17296918;17230465;17200151;16534121;15728306;15679701;15627203;15390016;15368614;15193417;14978685;12975309;12853948;12821748;12707948;12634861;12620933;12477932;12444570;12402271;12325078;12060343;11528394;10993904;10554001;16169070;22626943;20372795;17993586;19147379;19441135;19896264;20298200;20301587;20800530;21220679;21157498;21320983;21767414;21386109;21425342;21139048;21219543;21906983;22026499;21713999;21382349;21988832;23365103;23284065 8910 B7Z2R4;C9J4J9;C9JR67;E9PEH6;G5E9K6;H0YC75;O43556 AACC02000014;AB117974;ABBA01045782;AC069292;AF031920;AF036364;AF516515;AJ000534;AK295021;AK298220;AK313438;AL547747;AMYH01017696;AY359042;BC021709;BI552969;CH236949;CH471091;NG_008893;NM_001099400;NM_001099401;NM_003919 AAC04368;AAC14021;AAH21709;AAM64204;AAQ89401;AAS07485;ABM84989;ABW03640;BAD21206;BAG36229;BAG60490;BAH11950;CAA04167;EAW76784;EAW76785;EAW76786;EAW76787;EAW76788;NP_001092870;NP_001092871;NP_003910;O43556 Hs.371199 1687411;1708924;1779760;2123332 RH46573;SHGC-153737;SHGC-33751;SHGC-79514 DYT11;ESG OTTHUMP00000163052;OTTHUMP00000208297;OTTHUMP00000208298;OTTHUMP00000208299;OTTHUMP00000208300;OTTHUMP00000208303;dystonia 11, myoclonic;epsilon-SG;epsilon-sarcoglycan APPROVED protein-coding ENSG00000127990 10808 04999 159900;604149 REVIEWED 1312050 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008] 4 4 q12 52581629 52599203 - 52886861 52904485 - 1599343;1580863;6480464;6907045;7240710 9631401 7581448;8968749;18996010;17036316;16934466;16088906;15954112;15489334;14702039;12477932;12189167;12060343;11747090;10993904;10942431;10928275;10874299;10767327;10678176;10662809;10660328;9864373;9565988;9521867;9032047;7581449;2081733;17993586;21139048;21906983;20301582;18051367 6443 B7Z635;H0Y8J3;H0YA15;Q16585;Q5U0N0 ABBA01003374;AC093858;AK094731;AK289892;AK299765;AMYH01014173;BC020709;BC048972;BT019433;CA449352;CH471057;CN483961;CR456810;NG_008891;NM_000232;U29586;U31116;U63801;Y09781 AAA87034;AAB41291;AAB46956;AAH20709;AAV38240;ABM84066;ABM87424;ABW03884;BAF82581;BAH13121;CAA70920;CAG33091;EAX05429;EAX05430;NP_000223;Q16585 Hs.438953 1674669;1735382;1778936;2121539;2143428;5015619;5022578;5024039;5037552 D11S3114;D16S325;D1S1423;D4S2486E;D4S2539E;D8S2279;SHGC-50265;SHGC-67269;STS-W81563 A3b;LGMD2E;SGC 43 kDa dystrophin-associated glycoprotein;43DAG;OTTHUMP00000158880;beta-SG;beta-sarcoglycan;beta-sarcoglycan(43kD dystrophin-associated glycoprotein);limb girdle muscular dystrophy 2E (non-linked families) APPROVED protein-coding ENSG00000163069 10806 02942 600900;604286 REVIEWED 1315366 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008] 5 5 q33-q34 155686345 156125639 + 155753767 156194799 + 1599341;1580863;6480464;6907045;7240710 8841194 8842738;19010793;18996010;18649358;17652892;17036316;16344560;15489334;14564412;14506720;12794684;12477932;10993904;10974018;10942431;10928275;10767327;10735275;10629222;10608889;10481911;10341878;9864373;9832045;9339364;8943294;8889549;8776597;19913121;20628086;17993586;19259135;19260139;20161521;20181037;20379614;20384457;20474083;20301582;20301486;21988832;23251661 6444 E5RI34;Q92629 AA029970;ABBA01044278;ABBA01044279;ABBA01044280;ABBA01044281;ABBA01044282;AC008535;AC011345;AC016577;AC025434;AC027308;AF010236;AI139498;AK129889;AK130068;AK292794;AMYH01015739;BC008431;BC020740;BQ434817;BQ446019;BX501169;BX537948;BX642431;CH471062;DA561069;NG_008693;NM_000337;NM_001128209;NM_172244;U58331;X95191 AAC50921;AAH20740;ABM82676;ABM85855;BAF85483;CAA64490;CAD97916;EAW61618;EAW61619;NP_000328;NP_001121681;NP_758447;Q92629 Hs.387207;Hs.644733 1331610;1339382;1644479;1677140;1696676;1699742;1704402;1709442;1724033;1724723;1729329;1747083;1755879;1781012;1781014;1785506;1850912;2106603;2123821;2131239;2138192;2171115;2175454;2186103 A006N34;D5S1499;D5S820;G64134;G64955;L31456;NIB2057;RH103477;RH119027;RH122565;RH36417;RH41990;RH80699;SGCD__5392;SHGC-14004;SHGC-142716;SHGC-153999;SHGC-79724;SHGC-81762;SHGC-83016;STS-U58331;WI-14133;bac5714T;bac5715T 35DAG;CMD1L;DAGD;MGC22567;SG-delta;SGCDP;SGD 35 kDa dystrophin-associated glycoprotein;35kD dystrophin-associated glycoprotein;OTTHUMP00000223946;OTTHUMP00000223947;OTTHUMP00000223961;delta-SG;delta-sarcoglycan;dystrophin associated glycoprotein, delta sarcoglycan;placental delta sarcoglycan APPROVED protein-coding ENSG00000170624 10807 03246 601287;601411;606685 REVIEWED 1346308 SGIP1 SH3-domain GRB2-like (endophilin) interacting protein 1 SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008] 1 1 1 p31.3 65290173 65500737 + 66772413 66983356 + 66999825 67210768 + 737633;6480464 12477932 11256614;17975119;17626015;16710414;16381901;16344560;15919751;15489336;15489334;14702039;11230166;11076863;19023099;19713939;20379614;20421487;20946875;21317682;21407171;23307926;23509613 84251 F6R8P8;F8WD01;H9KV65;Q6MZY6;Q6ZV33 AB210039;ABBA01074528;ABBA01074529;ABBA01074530;ABBA01074531;ABBA01074532;AK090697;AK125044;AK298970;AK299941;AL136561;AL139147;AL354978;AL356913;AL391820;AMYH01000688;BC040516;BX640813;CH471059;CR749541;DA801276;NM_032291 AAH40516;ACE86691;ACE87375;BAC86031;BAE06121;BAG52213;BAH12914;BAH13177;CAB66496;CAE45891;CAH18344;CAL37765;EAX06521;EAX06522;EAX06523;NP_115667;Q9BQI5 Hs.132121 1337827;1660056;1660650;1673957;1691980;1693518;1704740;1711396;1713451;1714845;1748507;1789080;1789194;2150218;2167985;5094276;7186968 AL009405;AL009520;AL033642;D1S198;D1S3585;G16077;G42182;G54681;G65597;G65675;RH119584;RH120417;SHGC-131180;SHGC-30800;SHGC-58572;SHGC-79650 DKFZp686A16142;DKFZp761D221;FLJ33378;FLJ43054 OTTHUMP00000010739;OTTHUMP00000010740;OTTHUMP00000010741;SH3-containing GRB2-like protein 3-interacting protein 1;endophilin-3-interacting protein APPROVED protein-coding ENSG00000118473 25412 10910 611540 VALIDATED 1317183 SGCZ sarcoglycan, zeta The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008] 8 8 8 p22 12912065 14059882 - 13991744 15140163 - 13947373 15095792 - 6480464 19472918;17438352;15489334;12477932;12189167;18625863;20379614;20526338;22836685;23251661;23382691 137868 Q08AT0;Q96LD1 ABBA01021604;ABBA01021605;ABBA01021606;ABBA01021607;ABBA01021608;ABBA01021609;ABBA01021610;ABBA01021611;ABBA01021612;ABBA01021613;ABBA01021614;ABBA01021615;ABBA01021616;ABBA01021617;AC009898;AC019215;AC020992;AC021760;AC022039;AC023538;AC040926;AC084838;AC106857;AC107965;AMYH01018533;AMYH01018534;AMYH01018535;AMYH01018536;AY028700;AY502063;BC069459;BC125037;CH471080;NG_008899;NM_139167 AAH69459;AAI25038;AAK21962;AAR89453;EAW63843;EAW63844;NP_631906;Q96LD1 Hs.676196 1335091;1338526;1644967;1670039;1672470;1695922;1703756;1704478;1707762;1708534;1713163;1713881;1716033;1717405;1717515;1720989;1748613;1748855;1753065;1758925;1763207;2124548;2168484;5094813 ATT070;D8S1647;D8S1827;D8S511;G09307;G32147;G59476;RH119371;RH120369;RH120955;RH122193;RH122264;SHGC-110274;SHGC-110519;SHGC-146940;SHGC-150709;SHGC-68946;SHGC-78879;SHGC-82100;SHGC-82986;SHGC-83174;SHGC-85044;WI-1021;WI-10386 MGC149397;ZSG1 OTTHUMP00000116054;OTTHUMP00000229979;zeta-SG;zeta-sarcoglycan APPROVED protein-coding ENSG00000185053 14075 12165 608113 REVIEWED 1347979 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008] 13 13 q12 22653091 22797304 + 23755060 23899304 + 1580309;1580863;6480464;6907045;7240710 15087111 8641426;18996010;16883602;16832103;16344560;15954112;15489334;15479193;14960875;12477932;12189167;10993904;10942431;10767327;10714584;10629222;9864373;8968757;8923014;8900232;8105688;7668303;7481775;14506720;21738484;20345928;19770540;20350330;20379614;21832049;22524166;15546612;22004471;20301582;23291589;23300278 6445 Q13326 ABBA01007869;ABBA01007870;ABBA01007871;ABBA01007872;ABBA01007873;ABBA01007874;AK290620;AK316579;AL157766;AL160256;AL356287;AMYH01004968;AMYH01004969;BC074777;BC074778;BC109321;CH471075;DA897096;NG_008759;NM_000231;U34976;U63395 AAC50269;AAD13475;AAH74777;AAH74778;AAI09322;BAF83309;BAG38167;EAX08320;EAX08321;NP_000222;Q13326 Hs.37167 1334606;1713443;1724929;1737491;1737497;2119713;2121229;2121604 D13S1033;D13S1037;D13S232;D13S905;RH119231;RH119579;SGC35673;STS-U34976 A4;DAGA4;DMDA;DMDA1;LGMD2C;MAM;MGC130048;SCARMD2;SCG3;TYPE 35 kDa dystrophin-associated glycoprotein;35DAG;35kD dystrophin-associated glycoprotein;OTTHUMP00000018112;gamma sarcoglycan;gamma-SG;gamma-sarcoglycan APPROVED protein-coding ENSG00000102683 10809 07039 253700;608896 REVIEWED 1345170 SGM1 segmentation syndrome 1 6438 10815 1352309 SGMS1 sphingomyelin synthase 1 The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008] 10 10 q11.2 51735351 52053743 - 52065345 52383737 - 737633;1580863;1302423;6480464;6907045 12477932;12353928 14685263;14976195;19506037;19001565;18694848;18370930;17982138;17616479;17467659;17449912;16713569;16508036;15489334;15315829;11841947;10544266;16385451;18820264;19779494;20379614;16341674;21418611;21549185;21203393;21980337;22106271;21856749;22863277;22952603 259230 B4DJU2;D3DWC4;Q86VZ5;R4GNI5 AB154421;ABBA01052477;ABBA01052478;ABBA01052479;ABBA01052480;AC069547;AK026683;AK296233;AK311737;AL117341;AL596137;AMYH01002732;AY280959;AY312431;AY332650;AY364088;BC042899;BM141853;BM764008;BN000143;CH471142;FM210200;FN870365;FN908045;FN908146;FR686760;NM_147156;Y14155 AAH42899;AAP37279;AAQ22363;AAQ82051;AAR13294;BAD16809;BAG58954;CAD79708;CAR65042;CBM41470;CBM42040;CBM43071;CBW52777;EAW80429;EAW80430;EAW80431;EAW80432;NP_671512;Q86VZ5 Hs.654698 1338348;1341859;1647332;1661624;1682828;1689885;1690852;1705538;1755311;1766247;1768754;1774047;1797084;1858136;2116420;2123923;2134477;2161039;7184022;7184875;7187776 A007I09;BF055346;D10S1577;D10S196;D10S220;D10S2407;D10S2418;D10S538;RH45684;RH80546;RH80900;RH99240;SGC34922;SHGC-142200;SHGC-149604;SHGC-16177;SHGC-83869;STS-AA009772;WI-12701 MGC17342;MOB;MOB1;SMS1;TMEM23;hmob33 OTTHUMP00000035396;medulla oblongata-derived protein;phosphatidylcholine:ceramide cholinephosphotransferase 1;protein Mob;transmembrane protein 23 APPROVED protein-coding ENSG00000198964 29799 18203 611573 REVIEWED 1347154 SGK2 serum/glucocorticoid regulated kinase 2 This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] 20 20 20 q13.2 38895152 38921737 + 41621100 41647687 + 42187635 42214273 + 1580863;6480464 12397388;10548550;12632189;15790807;15578212;15489334;12634932;12477932;11780052;11707620;16460280;20511718;15203218;16344560;21832049;19953087 10110 F2Z3C8;Q5H8Y5;Q9HBY8 ABBA01052619;ABBA01052620;AF169034;AF186470;AK289596;AK308502;AMYH01011925;AY987010;BC006523;BC014037;BC065511;BG420383;BT020098;CD627734;CH471077;DA244897;DB183229;DC385330;NG_029448;NM_001199264;NM_016276;NM_170693;Z98752 AAF12757;AAG17012;AAH14037;AAH65511;AAV38901;AAX88805;BAF82285;EAW75955;EAW75956;NP_001186193;NP_057360;NP_733794;Q9HBY8 Hs.300863;Hs.740147 1729518;1848314 D20S43;Z94618 H-SGK2;dJ138B7.2 OTTHUMP00000031702;OTTHUMP00000031703;OTTHUMP00000031704;OTTHUMP00000031705;OTTHUMP00000031706;OTTHUMP00000031707;serine/threonine-protein kinase Sgk2;serum/glucocorticoid-regulated kinase 2 APPROVED protein-coding ENSG00000101049 13900 06348 607589 REVIEWED 6481373 SGOL1-AS1 SGOL1 antisense RNA 1 3 20215736 20227919 + 22365631 100874028 ABBA01025086;AC099057;AMYH01013015;BU156169;NR_046723 Hs.105153 APPROVED miscrna ENSG00000237485 41081 PREDICTED 731028 SGK1 serum/glucocorticoid regulated kinase 1 This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] 6 6 q23 134532081 134537695 - 134490384 134639196 - 1580863;1580967;1580968;1580969;1580970;2289157;6480464;6484113;6907045 15046873;16221215;15304560;12215463;11994539 17314099;17353931;9114008;10884438;19461886;19447520;19380724;19232516;19088452;19088076;19068477;18985156;18801914;18753299;18570873;18487207;18456663;18319604;18239069;18209482;17985234;17982255;17982254;17965184;17932503;17640988;17595519;17571248;17570343;17568772;17442044;17382906;17360471;17317952;17170520;16971495;16847254;16817852;16543730;16443776;16344560;16301825;16301823;16125969;16105029;16036218;15737648;15721303;15695387;15665527;15578212;15576372;15496163;15489334;15461589;15342340;15328345;15208094;15167446;15166308;15044175;15040001;14725621;14702039;14623317;14574404;12923071;12911626;12823993;12788082;12729930;12684516;12634932;12631736;12628440;12590200;12477932;12444200;12435876;12417559;12397388;12387817;12376324;12218062;12077559;12023960;11751930;11742982;11707620;11696533;11410590;11254654;11154281;10869359;10548550;10357815;10191262;9722955;15910284;14499622;15735679;16895519;22610502;22590650;19913121;20628086;21147854;20511718;15733869;16460280;17332896;19584721;19617352;19619128;19706464;19756449;19961832;20041238;20338997;20438709;20884880;20832730;20466724;20525693;20631247;20098747;20516150;20947508;21355052;21079778;23055545;23019294;21224398;21757730;21430556;21478911;22648267;23581296;23650397;17512525;21691090;20237237;21563193;20933037;21784856;21900244;22001908;22309306;19953087;16716084;17916563;19322201;20730100;22240294;16006511;22250980;22410793;23192594;23589291;22832853;23012321;23314748;23487453;20433920;22809514;20368287;21890473;21963094;21988832;22939624;23034940;23392695;22704443 6446 E9PJN2;E9PP33;E9PR89;H0YCJ3;Q5TCN4;Q7Z3I4 ABBA01025855;ABBA01025856;ABBA01025857;ABBA01025858;ABBA01025859;ABBA01025860;ABBA01025861;ABBA01025862;AF153609;AF460178;AJ000512;AK055077;AK098509;AK293383;AK295422;AK298688;AL135839;AL355881;AMYH01016684;AMYH01016685;AMYH01016686;BC001263;BC013832;BP384292;BQ183142;BX649005;CH471051;DA309338;DB450096;DC428953;EU518415;FM205707;FM205708;FM205709;FM205710;JQ836654;NM_001143676;NM_001143677;NM_001143678;NM_005627;Y10032;Z84486 AAD41091;AAH01263;AAN40971;ACD35864;AFJ04414;BAG51463;BAH11497;BAH12061;BAH12848;CAA04146;CAA71138;CAH10381;CAR58095;CAR58096;CAR58097;CAR58098;EAW47991;EAW47992;EAW47993;NP_001137148;NP_001137149;NP_001137150;NP_005618;O00141 Hs.510078 1647094;1681328;1694222;1769409;1794980;2123364;2128089;2138769;2157385;2163097;2187345;5116972;5491443 AL008757;AL022528;D9S233;MARC_12229-12230:1007996328:1;PMC86685P1;RH102;RH16308;RH80261;STS-H74007;STS-H95353;STS-T33566;WI-13202;ha3097 SGK OTTHUMP00000017246;OTTHUMP00000017247;OTTHUMP00000017248;OTTHUMP00000017249;OTTHUMP00000234028;OTTHUMP00000234029;Sgk1 variant i3;serine/threonine protein kinase SGK;serine/threonine-protein kinase Sgk1;serum/glucocorticoid-regulated kinase 1 APPROVED protein-coding ENSG00000118515 10810 04264 602958 REVIEWED 1602085 SGK196 protein kinase-like protein SgK196 This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 8 8 8 p11.21 41897360 41927029 + 43067818 43097480 + 42948657 42978323 + 6480464 16344560;15761153;15489334;14702039;12477932;10737800;12471243;21746835;23519211 84197 Q9H5K3 ABBA01021184;ABBA01021185;AC113191;AMYH01018692;BC101548;BC113703;BQ365114;CH471080;DA074115;DA330953;DA383787;DA818523;EH337134;NG_033235;NM_001277971;NM_032237 AAI01549;AAI13704;EAW63187;NP_001264900;NP_115613;Q9H5K3 Hs.491646 1683721 RH92724 FLJ23356;MDDGA12;MGC126597 OTTHUMP00000225904;OTTHUMP00000225905;Sugen kinase 196;probable inactive protein kinase-like protein SgK196;protein kinase-like protein SgK196 protein-coding ENSG00000185900 08668 615247;615249 REVIEWED 1354188 SGK3 serum/glucocorticoid regulated kinase family, member 3 This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 8 8 q12 67787445 67936811 + 67624653 67774257 + 1580863;6480464 10548550;19293151;17167223;16888620;16790420;16543730;16485113;16341674;16036218;15737648;15578212;15496163;15489334;14604990;12634932;12632189;12590200;12477932;12397388;12218062;12054501;11884598;11751930;11749387;11707620;11514587;11035810;10585774;8125298;16460280;20511718;20687898;21084382;21832049;21890473;21963094;21988832;22939624;23589291;22262416;22576469 23678 E5RHR8;E5RHX2;E5RHY6;E5RJV7;E5RK28;Q53EW6;Q5H9Q5;Q96BR1 ABBA01041880;ABBA01041881;ABBA01041882;AC011031;AC090154;AF085233;AF169035;AI127772;AK074666;AK223523;AK291428;AMYH01018773;AMYH01018774;AV714643;BC015326;BF665552;BI547053;BM739201;BQ777590;BU177012;CB995805;CH471068;CK822899;CQ783554;CR536581;CR933673;DB447859;HH961744;NM_001033578;NM_013257;NM_170709 AAF12758;AAF27051;AAH15326;BAD97243;BAF84117;BAG51984;CAF86721;CAG38818;CAI45969;CBX51345;EAW86919;EAW86920;NP_001028750;NP_037389;NP_733827;Q96BR1 Hs.613417;Hs.733251 1855803;2108465;2118769;2159639;2181656;5014740;5015619;5015861;5015961;5022322;5037552;7185938 D10S16;D11S2560;D11S3114;D15S1477;D17S610;D8S2279;SGKL_8014;SHGC-36195;STS-H98714;STS-N69197;STS-T86988 CISK;DKFZp781N0293;SGK2;SGKL OTTHUMP00000226962;OTTHUMP00000226963;OTTHUMP00000226965;OTTHUMP00000226966;OTTHUMP00000226969;cytokine-independent survival kinase;serine/threonine-protein kinase Sgk3;serum/glucocorticoid regulated kinase 3;serum/glucocorticoid regulated kinase-like;serum/glucocorticoid-regulated kinase 3;serum/glucocorticoid-regulated kinase-like APPROVED protein-coding ENSG00000104205 10812 06349 607591 REVIEWED 1603276 SGK494 uncharacterized serine/threonine-protein kinase SgK494 17 17 17 q11.2 23794009 23800238 - 23959109 23965338 - 26934982 26941211 - 6480464 15489334;14702039;12477932;12471243 124923 L7N484;Q96LW2 ABBA01015052;AC005726;AK057735;AK294189;AK316079;AMYH01008280;BC045622;BC147005;BC147009;CH471159;NM_001174103 AAH45622;AAI60139;BAB71555;BAG57505;BAH14450;EAW51108;EAW51109;EAW51110;EAW51111;NP_001167574;Q96LW2 Hs.514033;Hs.729077 1667701;1678601;1734434;1847515;2123029;2166045;5015861;5020274;5022463;5037670;5493767;7185938 D10S16;D17S1405E;D3S1673;D3S4354;G19761;L18441;RH10564;SHGC-12628;SHGC-31911;SHGC-32514;UniSTS:494733 FLJ25006;FLJ78978;MGC39533 sugen kinase 494;uncharacterized serine/threonine-protein kinase SgK494 APPROVED protein-coding 08680 PROVISIONAL 1344948 SGOL1 shugoshin-like 1 (S. pombe) 3 3 p24.3 20177087 20202687 - 20202085 20227724 - 737633;6480464 12477932 21346195;16541025;18084284;19015261;18716626;18635744;18331714;17621308;17617734;17448445;16628005;16580887;16112668;15737064;15723797;15604152;15489334;12747765;17322402;16344560;16541024;16582621;16682347;19465021;19716788;20379614;20384790;20739936;14702039;19156129;21532624;20562864;22161216;19850743;20360068;20231385;21890473;22365631;19322201;21875947;22374677 151648 B5BUA4;F8WB17;Q9BVA8 AB187577;AB187578;AB187579;AB187580;AB187581;AB187582;AB190994;AB193056;AB193057;AB193058;AB193059;AB193060;AB193061;AB193062;AB193063;AB193064;AB193065;AB193066;AB451340;AB451489;AB567656;AB567657;ABBA01025086;AC099057;AF308299;AK024292;AK308095;AMYH01013015;BC001339;BC017867;BC032696;BC039605;BG530826;BX648516;CH471055;DB163747;NM_001012409;NM_001012410;NM_001012411;NM_001012412;NM_001012413;NM_001199251;NM_001199252;NM_001199253;NM_001199254;NM_001199255;NM_001199256;NM_001199257;NM_138484 AAG48266;AAH01339;AAH17867;AAH32696;BAD89587;BAD89588;BAD89589;BAD89590;BAD89591;BAD89592;BAD91318;BAD95529;BAD95530;BAD95531;BAD95532;BAD95533;BAD95534;BAD95535;BAD95536;BAD95537;BAD95538;BAD95539;BAG70154;BAG70303;BAJ79291;BAJ79292;EAW64307;EAW64308;EAW64309;EAW64310;NP_001012409;NP_001012410;NP_001012411;NP_001012412;NP_001012413;NP_001186180;NP_001186181;NP_001186182;NP_001186183;NP_001186184;NP_001186185;NP_001186186;NP_612493;Q5FBB7 Hs.105153 5015619;5037552;5109663;5117897 D11S3114;D7S2067E;D8S2279;GDB:631813 FLJ14230;NY-BR-85;SGO;Sgo1 OTTHUMP00000161045;OTTHUMP00000207982;OTTHUMP00000208163;OTTHUMP00000208164;OTTHUMP00000208165;OTTHUMP00000208166;OTTHUMP00000208167;OTTHUMP00000208168;OTTHUMP00000208169;OTTHUMP00000208170;OTTHUMP00000208171;OTTHUMP00000208172;OTTHUMP00000208174;OTTHUMP00000208175;OTTHUMP00000208176;hSgo1;serologically defined breast cancer antigen NY-BR-85;shugoshin 1AB protein;shugoshin 1CD protein;shugoshin 1EF protein;shugoshin 1GH protein;shugoshin 1KL protein;shugoshin-like 1 protein-coding ENSG00000129810 25088 12377 609168 VALIDATED 1317805 SGSM1 small G protein signaling modulator 1 22 22 22 q11.23 9006548 9127191 + 23532136 23652813 + 25202136 25322813 + 737633;6480464 12477932 19077034;17509819;11853319;8889548;19913121;20628086;20379614;22637480 129049 Q2NKQ1 AB075821;AB275761;AB449879;ABBA01055155;ABBA01055156;ABBA01055157;ABBA01055158;ABBA01055159;ABBA01055160;AK123162;AK124850;AL049759;AL050312;AMYH01012671;AMYH01012672;AMYH01012673;AP000359;AW028652;BC036915;BC111698;BM930881;NM_001039948;NM_001098497;NM_001098498;NM_133454 BAB85527;BAF63511;BAH16622;NP_001035037;NP_001091967;NP_001091968;NP_597711;Q2NKQ1 Hs.474397;Hs.620906 1774823;1784506;1784524;1854055;2131368;5037552;5118444 D0S2249;D11S3316;D22S603;D8S2279;RH78632;SHGC-144873;SHGC-170350 KIAA1941;MGC133298;RUTBC2 OTTHUMP00000198601;OTTHUMP00000198602;RUN and TBC1 domain containing 2;RUN and TBC1 domain-containing protein 2;small G protein signaling modulator 1;small G protein signaling modulator 1 protein protein-coding ENSG00000167037 29410 611417 VALIDATED 1605563 SGMS2 sphingomyelin synthase 2 Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008] 4 4 q25 109033879 109051558 + 108745721 108836203 + 6480464;6907045 14685263;19286635;19233134;19001565;18694848;18566297;18370930;17982138;17616479;17449912;16344560;15489334;12477932;19454763;20332099;21235823;21139048;21906983;21980337;22106271 166929 E5RGG5;E5RJ63;E5RJU3;Q8NHU3 ABBA01063755;AC096564;AF452717;AK290344;AK314049;AL833599;AMYH01014451;BC028705;BC041369;BX649142;CH471057;DB048409;DC417367;NM_001136257;NM_001136258;NM_152621 AAH28705;AAH41369;AAP13352;BAF83033;BAG36758;EAX06211;EAX06212;EAX06213;NP_001129729;NP_001129730;NP_689834;Q8NHU3 Hs.595423 1645834;1651935;1700422;1761783;2172107 A005E06;RH103832;SHGC-145745;SHGC-59733;STS-H01973 MGC26963;SMS2 OTTHUMP00000162627;OTTHUMP00000162628;OTTHUMP00000162629;SM synthase;phosphatidylcholine:ceramide cholinephosphotransferase 2 APPROVED protein-coding ENSG00000164023 28395 11323 611574 REVIEWED 1315867 SGSM2 small G protein signaling modulator 2 17 17 17 p13.3 2256908 2300461 + 2187556 2231098 + 2240806 2284348 + 737633;6480464 12477932 19077034;17509819;16169070;9455477;19584346;21808068;21873549 9905 B9A6J3;I3L1Y7;I3L361;I3NI18;J3QSA2;O43147 AB007857;AB275762;AB449878;ABBA01054701;ABBA01054702;AC006435;AK124883;AK125203;AK294955;AK304263;AL450226;AMYH01008012;BC029251;BC039204;BC061895;CH471108;NM_001098509;NM_014853 AAH39204;BAA23693;BAC86084;BAF63512;BAG58030;BAG65127;BAH16621;EAW90545;EAW90546;EAW90547;NP_001091979;NP_055668;O43147 Hs.513861 1680044;1728505;1729564;1734420;2174346;5123729;7184721 D17S1397E;D17S379;G63690;RH41934;RH91781;SHGC-30137 KIAA0397;RUTBC1 RUN and TBC1 domain containing 1;RUN and TBC1 domain-containing protein 1;small G protein signaling modulator 2;small G protein signaling modulator 2 protein protein-coding ENSG00000141258 29026 15284 611418 VALIDATED 1353613 SGSM3 small G protein signaling modulator 3 22 22 22 q13.1-q13.2 24568657 24608354 + 39096541 39136239 + 40766595 40806293 + 737633;6480464 12477932 16923123;17509819;19077034;15541357;15461802;14702039;11214971;15709751;19570815;12771190;17174262;16086013;21906983;21900206;17267689;22505724 27352 B0QY80;B0QY81;B4DMS2;B9A6J5;H0Y7V2;Q96HU1 AB196956;AB275763;AB449880;ABBA01055602;AK000006;AK295469;AK297599;AK301042;AK309400;AL022238;AL137499;AMYH01012788;AW512418;AY308849;BC008078;BC127850;BG741967;BU585020;CH471095;CR456441;NM_015705 AAH08078;AAI27851;AAQ81879;ABM84197;ABM87601;BAA92231;BAE02561;BAF63513;BAG58399;BAG59984;BAG62655;BAH16623;CAB70773;CAG30327;CAK54470;CAK54769;EAW60378;EAW60379;EAW60380;EAW60381;NP_056520;Q96HU1 Hs.474914 1665089;1665091;1855995;2191489;5122766 A006A20;G20649;MARC_23909-23910:1031838934:1;NIB2041;SGC30681 DKFZp761D051;MAP;RABGAP5;RUSC3;RUTBC3;RabGAP-5 OTTHUMP00000199241;RUN and SH3 containing 3;RUN and TBC1 domain containing 3;RUN and TBC1 domain-containing protein 3;merlin binding protein;merlin-associated protein;rab-GTPase-activating protein-like protein;rabGAPLP;small G protein signaling modulator 3;small G protein signaling modulator 3 protein protein-coding ENSG00000100359 25228 15285 610440 VALIDATED 1343984 SGPP1 sphingosine-1-phosphate phosphatase 1 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009] 14 14 14 q23.2 44201594 44245417 - 63220687 63264509 - 64150934 64194756 - 1580863;6480464;6484113;6907045 17895250;17081983;16782891;15489334;15180992;12815058;12508121;12477932;12411432;10859351;11069896;19798445;20798685;21940944;22052905;19322201;22106015;22359512 81537 Q9BX95 ABBA01018335;AF349315;AJ293294;AK314188;AL161670;AMYH01005793;BC063839;BC070060;CH471061;NM_030791 AAH63839;AAH70060;AAK26660;BAG36867;CAC17772;EAW80834;NP_110418;Q9BX95 Hs.24678 1777677;2134114;2183828 G35499;RH17831;WI-16352 SPPase1 OTTHUMP00000028107;hSPP1;hSPPase1;sphingosine-1-phosphatase 1;sphingosine-1-phosphate phosphatase 1;spp1 APPROVED protein-coding ENSG00000126821 17720 10226 612826 PROVISIONAL 1346522 SGPP2 sphingosine-1-phosphate phosphatase 2 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP2 catalyzes the degradation of S1P (Ogawa et al., 2003 [PubMed 12411432]).[supplied by OMIM, Jun 2009] 2 2 2 q36.1 217107484 217191808 + 222997566 223131861 + 223289322 223423617 + 1302442;1580863;6480464;6907045 12411432 17113265;14702039;12477932;23568457 130367 Q53QF5;Q8IWX5 ABBA01023813;ABBA01023814;AC097461;AC112718;AF542512;AK096323;AK314322;AMYH01011516;AMYH01011517;BC106904;BC106905;BC114513;BC134342;CH471063;NM_152386 AAI06905;AAI06906;AAI34343;AAN28731;AAX88957;AAY24195;BAC04762;BAG36970;EAW70801;NP_689599;Q8IWX5 Hs.591604 1337779;1704240;1717929;1727549;1757735;1783978;1784110;5015619 D11S3114;D2S2300;G63032;RH122791;SHGC-141517;SHGC-146400;SHGC-153751;SHGC-83242 FLJ39004;SPP2 OTTHUMP00000164206;SPPase2;hSPP2;sphingosine 1-phosphate phosphohydrolase 2;sphingosine-1-phosphatase 2;sphingosine-1-phosphate phosphatase 2;sphingosine-1-phosphate phosphotase 2 APPROVED protein-coding 19953 18048 612827 PROVISIONAL 1318224 SGOL2 shugoshin-like 2 (S. pombe) 2 2 2 q33.1 195145716 195203700 + 201099185 201156750 + 201390865 201448818 + 6480464 16541025;17353931;18084284;17485487;16565220;16381901;16344560;15815621;15489336;15489334;14702039;12477932;11230166;11076863;19898482;20739936;20889715;18029348;20360068;21139048 151246 B7Z7S9;C9JW92;Q562F6 ABBA01062516;AC012459;AC080164;AK057940;AK095291;AK302457;AMYH01011399;AY094614;BC004567;BC035764;BC048349;BC092412;BC110583;BX647433;CH471063;DB369428;NM_001160033;NM_001160046;NM_152524 AAH35764;AAH48349;AAH92412;AAM21971;AAY24264;AAY24310;BAB71617;BAC04524;BAH13715;CAL37460;CAL37862;EAW70207;NP_001153505;NP_001153518;NP_689737;Q562F6 Hs.655182 1761525 SHGC-145527 FLJ25211;MGC129665;SGO2;TRIPIN OTTHUMP00000205956;shugoshin-2;shugoshin-like 2 protein-coding ENSG00000163535 30812 11555 612425 VALIDATED 736917 SH2B2 SH2B adaptor protein 2 The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009] 7 7 q22 101715166 101748898 + 101928405 101962178 + 1625124;6480464;6484113;6907045 17347799 10374881;9233773;9989826;16141217;15737992;15231829;12400014;12101115;11751854;10196204;9799793;18273061;9856458;10872802;11997497;15031295;15946664;20237496;19293402;17548467;17620296;16273093;23190452 10603 C9JK89;F5GY53;H7C431;O14492 AB000520;ABBA01011293;ABBA01011294;ABBA01011295;AC005088;AC091390;AMYH01017766;AMYH01017767;BI261466;CH471197;DN995670;NG_033220;NM_020979 BAA22514;EAW50232;EAW50233;NP_066189;O14492 Hs.489448 2122952;2155102;2157914;2159815 GDB:4585353;GDB:4585751;RH44454;WI-21075 APS SH2 and PH domain-containing adapter protein APS;SH2B adapter protein 2;adapter protein with pleckstrin homology and Src homology 2 domains;adaptor protein with pleckstrin homology and src homology 2 domains APPROVED protein-coding 17381 16097 605300 REVIEWED 1345995 SGSH N-sulfoglucosamine sulfohydrolase This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 17 17 q25.3 75797685 75808719 - 78183079 78194199 - 1580332;1580333;1580863;6480464;7240710 15146460;15902564 7493035;18407553;15489334;14702039;12754519;12702166;12477932;11793481;11668611;11343308;10727844;10521831;9744479;9700599;9554748;9405287;9401012;9285796;9158154;8946167;8125298;6796310;20237496;21550404;22939629;21671382;21890473;22268729 6448 F5H6A3;I3L0M2;I3L207;I3L2I6;I3L2L4;I3L3T3;I3L4B7;I3L4C9;I3NI22;P51688 AB209900;ABBA01015407;AC087741;AC123764;AK095969;AK222890;AK291257;AK304706;AK309927;AMYH01008694;AW274014;BC047318;BF445930;CH471099;DC319407;NG_008229;NM_000199;U30894;U60111 AAA86530;AAB17952;AAH47318;BAD93137;BAD96610;BAF83946;BAG53179;BAH14242;EAW89590;EAW89591;NP_000190;P51688 Hs.31074 1684355;1710780;2157958;5015619 D11S3114;RH78492;RH79914;SHGC-84063 HSS;MPS3A;SFMD N-sulphoglucosamine sulphohydrolase;heparan sulfate sulfatase;mucopolysaccharidosis type IIIA;sulfoglucosamine sulfamidase;sulphamidase APPROVED protein-coding ENSG00000181523 10818 05590 252900;605270 REVIEWED 1347742 SGPL1 sphingosine-1-phosphate lyase 1 10 10 q21 72245722 72309873 + 72575704 72640946 + 6480464;6484113;6907045 11018465;14570870;19119317;18172856;17373700;17090686;16777052;15489334;15342556;14702039;12477932;10574462;9464245;2061324;20519401;16385451;18029348;21184844;22784711;21304987;21368890;21903422;21139048;21890473;21906983;21963094;19322201;22190034 8879 H0Y3V8;H7BXL7;O95470 AB033078;ABBA01019635;AC073176;AF144638;AJ011304;AK023873;AK308610;AK314615;AMYH01002815;BC031338;BC041567;BC051238;BC052991;BC068061;BP314104;CH471083;CS479821;NM_003901 AAD44755;AAH52991;BAA86566;BAG37181;CAA09590;CAM35395;EAW54414;NP_003892;O95470 Hs.499984 1644361;1650138;1654067;1684305;2150089;2161601;5093110 A009G12;G32525;RH27225;RH44692;SHGC-33649;SHGC-36893;WI-14267 FLJ13811;KIAA1252;S1PL;SPL OTTHUMP00000019766;OTTHUMP00000019769;SP-lyase 1;SPL 1;hSPL;sphingosine-1-phosphate aldolase;sphingosine-1-phosphate lyase 1 protein-coding ENSG00000166224 10817 07224 603729 VALIDATED 1353974 SGTB small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 5 5 5 q12.3 61960213 62016409 - 64997511 65053697 - 64961755 65017941 - 737633;1580863;6480464 12477932 16189514;15489334;14702039;2158125;17207965;21139048;21890473;21906983 54557 D6RFW1;Q96EQ0 ABBA01048324;ABBA01048325;ABBA01048326;ABBA01048327;ABBA01048328;AC008560;AC008958;AF075050;AF368281;AK096321;AL713334;AMYH01015135;BC012044;CH471137;NM_019072 AAC28459;AAH12044;AAP29459;ADQ31912;BAC04761;EAW51342;NP_061945;Q96EQ0 Hs.482301 1646543;1648646;1652922;1709478;1773991;1849642;5015861;5037552;5109283;7185938 D10S16;D1S1431;D8S2279;IB2013;RH66359;SHGC-81792;STS-N23147;STS-R61558;WI-15163 FLJ39002;SGT2 OTTHUMP00000123451;beta-SGT;small glutamine rich protein with tetratricopeptide repeats 2;small glutamine-rich protein with tetratricopeptide repeats 2;small glutamine-rich tetratricopeptide repeat-containing protein beta protein-coding ENSG00000197860 23567 18049 VALIDATED 1603671 SH2B1 SH2B adaptor protein 1 This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] 16 16 p11.2 28782815 28793027 + 28875078 28885534 + 2302071;6480464;6907045 15316008 19164386;19079261;19079260;17471236;17228025;16344560;15767667;14702039;12477932;12421765;11940664;10718198;9742218;10594240;12074588;10708759;9856458;12370803;9343427;10757801;20712903;20724581;20725061;20816152;20816195;21045733;20935630;20571754;20616199;19293402;21102463;20808231;12551917;19342444;19692490;19746409;19851340;19910938;20215397;20386550;11827956;23160192;21566085;22901222;22942098;17565041;22974441;21907990;21796141;21750520;22248999;16273093;21988832;23190452;23054017;23270367;22443470 25970 B3KNV5;B4DLN5;F5GXU7;H3BMY3;H3BPB4;H3BPZ4;H3BTK4;H3BTT2;H3BUN7;H3BVF6;Q9NRF2 AB037720;ABBA01045685;AC133550;AF227967;AF227968;AF227969;AK027488;AK055104;AK290332;AK297080;AK298569;AL049924;AL713760;AMYH01007478;BC010704;CH471267;DA490578;DB026545;NG_029706;NM_001145795;NM_001145796;NM_001145797;NM_001145812;NM_015503 AAF73912;AAF73913;AAF73914;AAH10704;BAA92537;BAB55148;BAF83021;BAG51467;BAG59597;BAG60762;CAB43208;CAD28530;EAW51999;EAW52000;EAW52001;EAW52002;EAW52003;EAW52004;EAW52005;NP_001139267;NP_001139268;NP_001139269;NP_001139284;NP_056318;Q9NRF2 Hs.15744 1681849;2110729;5109281 D1S1425;SH2B_9440;SHGC-61052 DKFZp547G1110;FLJ30542;KIAA1299;PSM;SH2B SH2 domain-containing protein 1B;SH2 domain-containing putative adapter SH2-B;SH2-B signaling protein;SH2B adapter protein 1;pro-rich, PH and SH2 domain-containing signaling mediator APPROVED protein-coding ENSG00000178188 30417 12336 608937 REVIEWED 68607 SH2B3 SH2B adaptor protein 3 This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus.[provided by RefSeq, May 2010] 12 12 q24 110328135 110373810 + 111843752 111889427 + 6480464;6484113;6907045;7240710 20560212;18029348;19430483;19430479;19375649;19264985;19198610;19073967;18805825;18593762;18588518;18311140;17554300;17007883;16644735;12477932;11805142;22561518;11163396;10799879;9169414;8995445;8649391;20404132;20647273;21794913;21922527;21990094;19293402;19430480;19693089;19838195;19860791;19862010;19913121;19951419;20190752;20237496;20508602;20546165;20843259;20586186;20971364;21045733;21060863;20724988;20453842;21383967;21378990;21496118;21310211;22028877;21829393;21909115;22493691;19322201;22441983;16273093;22916186;23222517;23417110;22139419 10019 F5GYM4;Q59H48;Q9UQQ2;R4GN84 AB208911;ABBA01019888;ABBA01019889;ABBA01019890;AC002395;AC005805;AF055581;AJ012793;AK025666;AK025745;AK302173;AMYH01004752;BC015786;BC136451;CH471054;HI573956;NG_021216;NM_005475 AAC71695;AAH15786;AAI36452;BAD92148;BAH13642;CAB42642;CBX47467;EAW97955;EAW97956;NP_005466;Q9UQQ2 Hs.506784 1652426;1667337;1673432;1796258;2140147 D12S2142;LNK_1461;RH15682;RH44606;SGC35065 IDDM20;LNK OTTHUMP00000241520;OTTHUMP00000241521;SH2B adapter protein 3;lymphocyte-specific adapter protein Lnk;signal transduction protein Lnk APPROVED protein-coding ENSG00000111252 29605 05480 133100;187950;254450;605093 REVIEWED 735887 SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008] 19 19 p13 2705712 2734354 - 2754712 2783354 - 1580863;6480464 11076863;9740675;10567422;11256614;18759457;18607086;18332089;17942943;17081983;16964243;16777091;16580629;16381901;16189514;16169070;15972823;15710426;15489336;15489334;15302935;15057824;14729056;14667819;14623262;12815268;12735788;12482202;12477932;11878889;11230166;9766974;9573291;9557704;7966229;2158125;20516149;19615732;20200332;22693264;22863883;22733359;22939629;23129660;16196087;17558393;20639865;21139048;21890473;21900206;21906983;22779921;21963094;21987572;21988832;23000965;23142665;23246001;23533635;20012522;22053931;22505724;23433514 6449 K7EMD6;K7ERW5;O43765 ABBA01002769;AC006538;AF368279;AF408399;AJ133129;AJ223828;AK293535;AL050156;AMYH01009291;BC000390;BC002989;BC005165;BC008885;BG423904;CH471139;CR533517;CR542282;NM_003021 AAD13117;AAH00390;AAH02989;AAH05165;AAH08885;AAL01051;AAP29457;BAG57017;CAA11565;CAB39725;CAB43297;CAG38548;CAG47077;CAL38336;EAW69366;EAW69367;EAW69368;NP_003012;O43765 Hs.203910 2129968;2162433;2165179;2172766 A007K05;D19S1028;RH11023;RH77778 SGT;alphaSGT;hSGT UBP;alpha-SGT;protein containing three tetratricopeptide repeats;small glutamine-rich tetratricopeptide repeat-containing protein alpha;vpu-binding protein APPROVED protein-coding ENSG00000104969 10819 04568 603419 REVIEWED 1346207 SH2D1A SH2 domain containing 1A This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q25 123307831 123334686 + 123480132 123507010 + 1580863;6480464;6907045;7240710 11054674;17643931;17620557;17455312;17171759;16983070;16344560;16223723;16002423;15772651;15738056;15711562;15677558;15661039;15489334;15378026;15356108;15320910;15315965;15195244;14726378;14707094;14674764;14523387;12951057;12928397;12766168;12594824;12545174;12477932;12458214;12356686;12152986;12115647;12008045;11815622;11806999;11803050;11493483;11489943;11477403;11477068;11389028;11313386;9774102;19570996;19150402;19079134;18951976;18832568;18662772;18587224;18479751;18212118;18051214;18031694;18024409;18000860;17922402;17692919;22438812;11034354;10852966;10549287;9811875;9771704;8387453;8361760;10607564;10089404;12621057;15096483;19759517;19859091;9856458;11282995;15722257;17289546;17785286;20301580;22425739;20926771;20975587;21091715;21119115;22048771;9235954;21674762;16273093;22912825;9130707;22069374;22271700;19322201;23165210;15169881;22505724 4068 O60880 AA190204;AB586694;ABBA01036455;ABBA01036456;ABBA01036457;ABBA01036458;ABBA01036459;AF072930;AF073019;AF100539;AF100540;AF100541;AF100542;AF100543;AK311645;AK311911;AL022718;AL023657;AMYH01022945;AMYH01022946;AMYH01022947;BC020732;BP432686;CH471107;CR542031;CR542043;DA007747;GM741641;HB441350;NG_007464;NM_001114937;NM_002351 AAC62630;AAC62631;AAC79712;AAC79713;AAC79714;AAC79715;AAC79716;AAH20732;ABM86090;ABW03773;BAG34852;BAJ19023;CAA19222;CAG46828;CAG46840;CAV31693;CAZ78681;EAX11847;EAX11848;EAX11849;EAX11850;EAX11851;NP_001108409;NP_002342;O60880 Hs.349094 1690085 RH93240 DSHP;EBVS;FLJ18687;FLJ92177;IMD5;LYP;MTCP1;SAP;SAP/SH2D1A;XLP;XLPD Duncan disease SH2-protein;OTTHUMP00000023976;OTTHUMP00000226563;SH2 domain-containing protein 1A;SLAM associated protein/SH2 domain protein 1A;SLAM-associated protein;T cell signal transduction molecule SAP;T-cell signal transduction molecule SAP;signaling lymphocyte activation molecule-associated protein;signaling lymphocytic activation molecule-associated protein APPROVED protein-coding ENSG00000183918 10820 02390 300490;308240 REVIEWED 1323129 SH2D4B SH2 domain containing 4B 10 10 10 q23.1 76287936 76398071 + 82287638 82396296 + 82297658 82406316 + 14702039;20379614;22864933 387694 B1AVV4;Q5SQS7 ABBA01003790;ABBA01003791;ABBA01003792;ABBA01003793;ABBA01003794;ABBA01003795;AC021028;AK091518;AK123885;AK123978;AL731544;AMYH01002883;AMYH01002884;AMYH01002885;NM_001145719;NM_207372 BAC85715;BAC85741;NP_001139191;NP_997255;Q5SQS7 Hs.147643 1714019;1747897;2219690 G66838;RH119440;SH2D4B__5396 FLJ41984 OTTHUMP00000019987;OTTHUMP00000059796;SH2 domain-containing protein 4B;novel SH2 domain-containing protein protein-coding ENSG00000178217 31440 18050 VALIDATED 2923266 SH2D7 SH2 domain containing 7 15 15 15 q25.1 55320939 55332405 + 76171982 76183448 + 78384927 78396393 + 11181995;16572171 646892 A6NKC9;B8ZZB5 ABBA01060579;AC090260;AMYH01006831;CH471136;NM_001101404 A6NKC9;EAW99187;NP_001094874 Hs.569511 OTTHUMP00000205438;OTTHUMP00000205439;Putative SH2 domain-containing protein LOC646892;SH2 domain protein-like;SH2 domain-containing protein 7;hCG38941 protein-coding 34549 VALIDATED 1345635 SH2D2A SH2 domain containing 2A This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 1 1 q21 155042659 155053226 - 156776035 156786640 - 1358573;1580863;2298729;2298871;2298870;2298532;6480464;6484113;6907045 11528519;17658244;18554728;15129233;16376520 9468509;10553045;19240061;18541536;18533279;18160104;17327418;16710414;16344560;15962004;15752554;15592455;15489334;12477932;10752626;10692392;10587356;8125298;11073940;19561400;20305788;19913121;20628086;12640115;21696499;15752563 9047 Q5UBZ2;Q5UBZ3;Q9NP31 ABBA01016643;AF051325;AF097744;AF106072;AJ000553;AK222737;AK313706;AL158169;AL590666;AMYH01001441;AY763098;AY763099;AY763100;BC012107;BQ012931;CH471121;DB128222;NG_016849;NM_001161441;NM_001161442;NM_001161443;NM_001161444;NM_003975 AAC99298;AAF43260;AAF69027;AAH12107;AAV34673;AAV34674;AAV34675;ACE87018;ACE87705;BAD96457;BAG36451;CAA04185;EAW52905;EAW52906;EAW52907;NP_001154913;NP_001154914;NP_001154915;NP_001154916;NP_003966;Q9NP31 Hs.103527 1773352;2217974 RH47613;SH2D2A_3029 F2771;SCAP;TSAD;VRAP OTTHUMP00000038737;OTTHUMP00000038738;SH2 domain protein 2A;SH2 domain-containing protein 2A;T cell specific adapter protein TSAd;T lymphocyte specific adaptor protein;VEGF receptor-associated protein APPROVED protein-coding ENSG00000027869 10821 05152 604514 REVIEWED 1606747 SH2D1B SH2 domain containing 1B By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 135468132 135485005 - 160631680 160648552 - 162365056 162381928 - 6480464 11689425;11244050;9000139;16920955;16710414;15489334;14702039;12787752;12477932;12115647;21832049;22974441;16425036 117157 O14796 ABBA01047305;ABBA01047306;AF020264;AF256653;AF403479;AF484964;AK097162;AK314743;AL512785;AL709120;AMYH01001463;BC022407;BC066595;CH471067;NM_053282 AAB70927;AAH22407;AAH66595;AAL26000;AAL27357;AAM28522;ABM82901;ABM86092;BAC04968;BAG37283;EAW90703;EAW90704;EAW90705;NP_444512;O14796 Hs.350581 EAT2 EAT-2;EWS/FLI1-activated transcript 2;OTTHUMP00000029531;SH2 domain-containing molecule EAT2;SH2 domain-containing protein 1B APPROVED protein-coding ENSG00000198574 30416 12248 608510 VALIDATED 1602949 SH2D5 SH2 domain containing 5 1 1 1 p36.12 19371996 19384904 - 20918812 20931720 - 21046225 21059133 - 6480464 16710414;14702039;20379614 400745 E5RGJ3;E5RGV2;E5RJW5;J3KQT6;Q6ZV89 ABBA01059794;AK123236;AK123841;AK124869;AK296431;AL663074;AMYH01000323;CH471134;DC382086;NM_001103160;NM_001103161 BAC85974;BAH12349;EAW94947;EAW94949;NP_001096630;NP_001096631;Q6ZV89 Hs.591522 1764035;1766369;2135833;2150146 RH45524;SHGC-147696;SHGC-149712;SHGC-74318 FLJ41242;FLJ41847;FLJ42879 OTTHUMP00000002714;OTTHUMP00000002715;SH2 domain-containing protein 5 protein-coding ENSG00000189410 28819 VALIDATED 1348075 SH2D3A SH2 domain containing 3A 19 19 19 p13.3 6694421 6709773 - 6703171 6718480 - 6752171 6767523 - 1580863;6480464 10187783;17427198;17270363;15489334;14702039;12975309;12477932;8125298;15778465;21906983;11875519 10045 A8K2M8;B4DRS7;M0QZQ6;Q9BRG2 ABBA01051474;AC008760;AC020954;AF124249;AK024368;AK225386;AK290293;AK292781;AK299406;AK310659;AMYH01009379;AY358406;BC006281;CH471139;NM_005490 AAD28244;AAH06281;AAQ88772;ABM83676;ABM86973;BAF82982;BAF85470;BAG61389;EAW69059;NP_005481;Q9BRG2 Hs.439645 1684668;1699522;2109829;5016478;5016596;5020881;5020948;5022322;5022578;5037552;5109281 D11S2560;D1S1423;D1S1425;D8S2279;G35510;GDB:434012;GDB:631802;L17709;RH103355;RH98924;SH2D3A_9033 NSP1 SH2 domain-containing 3A;SH2 domain-containing protein 3A;novel SH2-containing protein 1 protein-coding ENSG00000125731 16885 05283 604721 VALIDATED 1316391 SH2D3C SH2 domain containing 3C This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 9 9 9 q34.11 101151465 101191912 - 129540419 129580733 - 130500596 130541048 - 6480464 10187783;17562024;17427198;17270363;16344560;16189514;15489334;15272013;15164053;14702039;12975309;12486027;12477932;10692442;10542222;16169070;16825666;20583170;22081014;23503679;23568457 10044 B4DG32;E7EUN5;H0Y5X5;Q5JU32;Q8N5H7 ABBA01043842;ABBA01043843;AF124251;AI472242;AI799905;AJ420431;AK056068;AK096983;AK128287;AK291393;AK292041;AK292718;AK294386;AK311510;AL162426;AL162586;AMYH01021733;AY358089;AY358440;BC027962;BC032365;BI912337;BX647905;CH471090;CU454732;CU455802;DA054525;DA970566;DB161948;DC302682;NG_030563;NM_001142531;NM_001142532;NM_001142533;NM_001142534;NM_001252334;NM_005489;NM_170600 AAD28246;AAH27962;AAH32365;AAQ88456;AAQ89948;ADZ15473;BAF84082;BAF84730;BAF85407;BAG51614;BAG53404;BAG57643;CAI46101;EAW87695;NP_001136003;NP_001136004;NP_001136005;NP_001136006;NP_001239263;NP_005480;NP_733745;Q8N5H7 Hs.306412 1787184;2109831;2175178 SH2D3C_9032;SHGC-82506;WI-15876 CHAT;FLJ39664;NSP3;PRO34088;SHEP1 OTTHUMP00000022206;OTTHUMP00000022207;OTTHUMP00000022208;SH2 domain-containing 3C;SH2 domain-containing Eph receptor-binding protein 1;SH2 domain-containing protein 3C;novel SH2-containing protein 3 APPROVED protein-coding ENSG00000095370 16884 05284 604722 REVIEWED 1606407 SH2D6 SH2 domain containing 6 2 2 2 p11.2 85490191 85492425 + 85515429 85517663 + 85661918 85664152 + 6480464 18464913;14702039;12477932 284948 Q2YDT5;Q7Z4S9 ABBA01075749;AC016753;AF450483;AK093312;AMYH01010494;AY517502;BC110073;NM_198482 AAI10074;AAP97677;AAR98781;BAG52686;NP_940884;Q7Z4S9 Hs.209542 1709906 SHGC-84800 FLJ35993 OTTHUMP00000160679;SH2 domain-containing protein 6 protein-coding ENSG00000152292 30439 14156 PROVISIONAL 1314135 SH3BGRL2 SH3 domain binding glutamic acid-rich protein like 2 6 6 6 q14.1 80756102 80828496 + 80397719 80470088 + 80341000 80413369 + 1580863;6480464 22939629;14574404;12477932;12095696;9110174;8619474;22773346;20522523;21890473;18029348 83699 Q9BPY5 ABBA01040413;ABBA01040414;ABBA01040415;ABBA01040416;AF131754;AF340151;AJ297972;AK074506;AK307145;AK311757;AL035700;AL451064;AMYH01016458;BC040489;BC052987;BC060799;BC070059;BC109043;BC109044;CH471051;NM_031469 AAH40489;AAH52987;AAH60799;AAH70059;AAI09044;AAI09045;AAK37526;BAG34700;CAC35771;EAW48703;NP_113657;Q9UJC5 Hs.302772 1707862;1727519;1759171;1774499;2133794;2174834;2175403 D6S1164E.1;G63017;RH46668;RH69690;SHGC-152608;SHGC-82168;STS-H57896 FLJ90025 OTTHUMP00000016775;SH3 domain-binding glutamic acid-rich-like protein 2;fovea-associated SH3 domain-binding protein protein-coding ENSG00000198478 15567 15331 PROVISIONAL 1317502 SH2D4A SH2 domain containing 4A 8 8 8 p21.2 18134620 18217068 + 19215483 19297596 + 19171081 19253729 + 1580863;6480464 16189514;17353931;18029348;18641339;17081983;16964243;15489334;15302935;14702039;12477932;12476414;8125298;20936779;16344560;19060904;19712589;20379614;22863883;19389623;19471022;21906983;20360068 63898 H0YAT1;Q9H788 ABBA01021558;ABBA01021559;ABBA01021560;AC068880;AK024620;AK024799;AK225052;AK293301;AMYH01018554;AY190323;BC014525;BC067117;BC082982;CA418381;CH471080;DA952240;NM_001174159;NM_001174160;NM_022071 AAH14525;AAH67117;AAH82982;AAO41715;BAB14935;BAB15010;BAG56822;EAW63773;NP_001167630;NP_001167631;NP_071354;Q9H788 Hs.303208 1656888;1669553;1681068;1682656;2144264;2144701;2147371;2164043;5127327 D8S2001;GDB:312946;RH35966;RH80043;SHGC-33765;SHGC-5873;WI-15862;WI-17471;WI-17568 FLJ20967;PPP1R38;SH2A OTTHUMP00000122496;OTTHUMP00000224604;OTTHUMP00000224605;SH2 domain-containing protein 4A;protein SH(2)A;protein phosphatase 1 regulatory subunit 38;protein phosphatase 1, regulatory subunit 38 protein-coding ENSG00000104611 26102 08340 614968 VALIDATED 1346069 SH3BGR SH3 domain binding glutamic acid-rich protein 21 21 21 q22.3 26015495 26085127 + 39739667 39809303 + 40817797 40887433 + 1580863;6480464 18654987;9050928;16780588;15489334;14767758;12477932;12358155;10830953;8889548;20532202 6450 C9JJT2;C9JX40;H7C1Y8;H7C2G0;H7C3V3;P55822 ABBA01009334;ABBA01009335;ABBA01009336;ABBA01009337;AF121781;AF121897;AI338732;AL163279;AL163280;AMYH01012252;BC006371;BM474020;BM697281;BT006994;CH471079;NM_001001713;NM_007341;X93498 AAD12067;AAH06371;AAP35640;ACT64582;ACT64583;ADZ15842;CAB57259;CAB90445;CAB90456;EAX09637;EAX09638;EAX09639;EAX09640;NP_001001713;NP_031367;P55822 Hs.473847 1340425;1719243;1784420;1817506;1818018;1828482;1831998;1832526;1833152;1838494;1844716;1899648;1899650;1899652;1899654;1899656;1899658;1899660;1899662;1899664;1899666;1899668;1899670;1899672;1899674;1899676;1899678;1899680;1899682;1899684;1899686;1899688;1899690;1899692;1899694;1899696;1899698;1899700;1899702;1899704;1899706;1899708;1899710;1899712;1899714;1899716;1899718;1899720;1899722;1899724;1899726;1899728;1899730;1899732;2108467;2149039;2203266;2203268;2203270 D21S1246;ECD09803;ECD10065;ECD15368;ECD17137;ECD17403;ECD17718;ECD20421;ECD23573;REN20622;REN20623;REN20624;REN20625;REN20626;REN20627;REN20628;REN20629;REN20630;REN20631;REN20632;REN20633;REN20634;REN20635;REN20636;REN20637;REN20638;REN20639;REN20640;REN20641;REN20642;REN20643;REN20644;REN20645;REN20646;REN20647;REN20648;REN20649;REN20650;REN20651;REN20652;REN20653;REN20654;REN20655;REN20656;REN20657;REN20658;REN20659;REN20660;REN20661;REN20662;REN20663;REN20664;RH123342;RH45907;SH3BGR_8620;SHGC-106900;stSG622788;stSG622789;stSG622790 21-GARP 21-glutamic acid-rich protein;OTTHUMP00000082771;OTTHUMP00000082772;OTTHUMP00000082773;OTTHUMP00000109161;OTTHUMP00000109177;OTTHUMP00000207539;OTTHUMP00000207540;OTTHUMP00000210782;SH3 domain-binding glutamic acid-rich protein;SH3-binding domain and glutamic acid-rich protein protein-coding ENSG00000185437 10822 03753 602230 VALIDATED 1352415 SH3BGRL SH3 domain binding glutamic acid-rich protein like X X X q13.3 80697460 80794205 + 80344278 80440702 + 80457303 80554046 + 1580863;6480464 11230166;9642120;16130169;16344560;16186799;16080146;15772651;15489334;15146197;12477932;8589991;1602151;16729043;20532202;22939629;21139048 6451 O75368 ABBA01049187;ABBA01049188;ABBA01049189;ABBA01049190;ABBA01049191;ABBA01049192;ABBA01049193;ABBA01049194;ABBA01049195;ABBA01049196;AF042081;AK024892;AK129610;AK309350;AK309351;AK309352;AK310011;AK310155;AK315897;AL136718;AL357115;AMYH01022643;BC016709;BC103762;CH471104;CN272007;CR533478;DA487377;NM_003022 AAC27445;AAH16709;AAI03763;BAF98788;CAB66652;CAG38509;EAW98579;EAW98580;EAW98581;NP_003013;O75368 Hs.108029 1672864;1738997;1848608;2138080;2151653;2172815 1598;DXS7425;SHGC-34549;STS-AA034026;WI-12682;WI-20792 MGC117402;SH3BGR OTTHUMP00000023609;SH3 domain-binding glutamic acid-rich-like protein;SH3-binding domain glutamic acid-rich protein like protein-coding ENSG00000131171 10823 02178 300190 VALIDATED 7174998 SH3BP5-AS1 SH3BP5 antisense RNA 1 3 p25.1 15295691 15306005 + 21956439;22488850;8889548 100505696 ABBA01025142;AC087590;AL133111;AMYH01013001;BM684368;CA447289;NR_046084 Hs.257761 1683255;1689714;1698718;1730275;1735096;1858200;2121447 D3S1323E;D3S2776E;RH102919;RH66166;RH66709;SHGC-64041;SHGC-76742 miscrna ENSG00000224660 44501 VALIDATED 1317706 SH3BGRL3 SH3 domain binding glutamic acid-rich protein like 3 1 1 1 p36.11 25002547 25004347 + 26478800 26480600 + 26606213 26608013 + 1580863;6480464 15907482;15489334;12477932;11444877;11344125;11211881;11137621;10554026;18029348;16729043;21832049;22939629;21139048;21906983 83442 Q5T123;Q9H299 ABBA01034902;AF247790;AF304163;AF466367;AJ297915;AK024884;AL451139;AMYH01000397;BC030135;CH471059;DB482618;NM_031286 AAG41412;AAH30135;AAL95695;AAO33388;ABM84303;ABM87697;CAC35770;EAX07831;EAX07832;NP_112576;Q9H299 Hs.109051 1681010;1682678;1684970;1697500 RH102252;RH79742;RH80614;RH91491 SH3BP-1;TIP-B1 OTTHUMP00000003458;SH3 domain-binding glutamic acid-rich-like protein 3;SH3 domain-binding protein 1;SH3BGRL3-like protein;TNF inhibitory protein protein-coding 15568 15332 VALIDATED 1314801 SH3BP1 SH3-domain binding protein 1 22 22 22 q13.1 21837548 21853915 + 36365630 36381996 + 38035684 38052050 + 1580863;6480464 12029088;15489334;15461802;14702039;12477932;10591208;1379745;10764144;10508610;9548756;18685082;8438166;21906983;21044950;23223568;20697350;22891260 23616 F5GZA8;F8WEQ3;Q6ZT62;Q9Y3L3 ABBA01055478;ABBA01055479;AK124370;AK126556;AK301163;AL157480;AMYH01012754;AMYH01012755;AW452539;AY364241;BC008282;CH471095;CR456576;NM_018957;Z83844 AAH08282;AAQ76800;ABM83584;ABM86824;BAC85842;BAC86592;BAH13419;CAB75671;CAG30462;CAK54606;CAK54905;EAW60171;EAW60172;EAW60173;EAW60174;NP_061830;Q9Y3L3 Hs.601143 5022578 D1S1423 ARHGAP43 3BP-1;OTTHUMP00000028981;OTTHUMP00000198187;SH3 domain binding protein 1;SH3 domain-binding protein 1 protein-coding ENSG00000100092 10824 10227 VALIDATED 1321583 SH3BP2 SH3-domain binding protein 2 The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 p16.3 2790339 2810712 + 2794750 2842823 + 1599339;1580863;6480464;7240710 11381256 14577811;12900899;12709437;12501243;12477932;12200378;11390470;10409713;10364528;10364527;9846481;9734812;8438166;8125298;9299232;19017279;18596838;18479751;17544554;17321449;17306257;17156730;17147794;16802602;16713042;16177062;15751964;15489334;15345594;15117958;14759258;14757747;20872577;20002873;16169070;19833725;20237496;20379614;20301316;19576004;22820184;21680150;21794028;22153077;16273093;21988832;22153076;22795151;19531213;23083484;20439986 6452 D6R919;D6R995;D6RAB4;D6RBL6;D6RC64;D6RER9;H0YAD9;P78314 AB000462;AB000463;ABBA01029485;ABBA01029486;ABBA01029487;ABBA01029488;ABBA01029489;AF000936;AK124073;AK126537;AK225497;AK299996;AK304752;AK307106;AK312286;AL121750;AMYH01013884;BC022996;CH471131;CQ834812;DC391267;NG_011609;NM_001122681;NM_001145855;NM_001145856;NM_003023;U56386 AAB59973;AAB72034;AAH22996;BAA19119;BAA19120;BAC85767;BAC86582;BAG35213;BAG61816;BAH14252;CAH05621;EAW82506;EAW82507;EAW82508;EAW82509;EAW82510;EAW82511;EAW82512;EAW82513;NP_001116153;NP_001139327;NP_001139328;NP_003014;P78314 Hs.167679 1659519;1663875;1729996;2107569;2133051;2136532;5016352;5016478;5020946;5022651;5037552 D11S2921;D4S182;D4S3283;D8S2279;GDB:434012;L17971;L30021;RH68130;SH3BP2__6823;SHGC-68227;STS-H16766 3BP-2;3BP2;CRBM;CRPM;FLJ42079;FLJ54978;RES4-23 3BP-2;Abl-SH3 binding protein 2;OTTHUMP00000219014;OTTHUMP00000219024;OTTHUMP00000219026;OTTHUMP00000219027;SH3 domain-binding protein 2;TNFAIP3 interacting protein 2 APPROVED protein-coding ENSG00000087266 10825 03657 118400;602104 REVIEWED 1606500 SH3BP5L SH3-binding domain protein 5-like 1 1 1 q44 222266041 222281391 - 247071274 247086777 - 249104651 249120154 - 6480464 16189514;14702039;12975309;12477932;11230166;11214970;15324660;20936779 80851 B4DQ94;Q7L8J4 AB051507;ABBA01002095;AK056345;AK056382;AK091164;AK125138;AK125837;AK298698;AK299713;AL136569;AL732583;AMYH01001952;AY358453;BC010871;BC011962;BC017254;CH471257;NM_030645 AAH10871;AAH11962;AAH17254;AAQ88818;BAB21811;BAB71158;BAB71171;BAG60856;BAG61613;CAB66504;EAW57534;EAW57535;EAW57536;NP_085148;Q7L8J4 Hs.298573 2123462;2127996 Cda1ha09;RH12550 FLJ33845;KIAA1720 OTTHUMP00000038181;SH3 domain-binding protein 5-like;SH3BP-5-like protein-coding ENSG00000175137 29360 13887 PROVISIONAL 1345626 SH3GL1P1 SH3-domain GRB2-like 1 pseudogene 1 17 17 17 q11.2 27286990 27289486 + 27391106 27393960 + 30367355 30369851 + 9169142 6458 ABBA01014941;AC090616;AMYH01008328;NR_033412;X99658;X99659 Hs.672460 CNSA-P1;SH3GLP1 APPROVED pseudo 10835 VALIDATED 1349582 SH3GL1P2 SH3-domain GRB2-like 1 pseudogene 2 17 17 q11.2 25971963 25976873 + 28951336 28953841 + 19291764;9169142 6459 ABBA01014999;AC005562;AMYH01008308;AMYH01008309;AMYH01008310;AMYH01008311;NR_033420;X99660;X99661 Hs.684860 CNSA-P2;SH3GLP2 APPROVED pseudo 10836 VALIDATED 1352293 SH3GL1P3 SH3-domain GRB2-like 1 pseudogene 3 17 17 17 q24.2 62700277 62702800 - 63641742 63643734 - 66129357 66131906 - 9169142 727736 ABBA01028966;AC005332;NG_011727;X99662;X99663 Hs.591212 1656315 RH47730 CNSA-P3;SH3GLP3 APPROVED pseudo 10837 INFERRED 731485 SH3BP4 SH3-domain binding protein 4 This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008] 2 2 2 q37.1-q37.2 229577847 229681460 + 235525367 235629097 + 235860628 235964358 + 724635;6480464 10644451 17353931;16964243;16325581;15815621;15616480;15489334;15324660;12477932;9303539;7568168;15778465;18654987;21546767;20379614;20936779;21139048;21890473;21906983;22419666;22575674 23677 C9JED2;C9JF25;C9JRG1;C9JWW6;Q9P0V3 ABBA01013931;ABBA01013932;AC010148;AC114814;AF015043;AF147747;AK291209;AK304398;AMYH01011588;BC057396;BX647198;BX648877;CH471063;DQ232895;NM_014521 AAD01551;AAF33022;AAH57396;AAY14916;AAY24025;ABB18377;BAF83898;BAG65233;EAW71076;EAW71077;NP_055336;Q9P0V3 Hs.516777 1679037;1847012;1857187;2115198;2162177 A004W19;Cda19e02;RH93190;SHGC-33127;WI-14192 BOG25;TTP EH-binding protein 10;OTTHUMP00000164396;OTTHUMP00000203216;OTTHUMP00000203217;SH3 domain-binding protein 4;transferrin receptor trafficking protein;transferrin receptor-trafficking protein APPROVED protein-coding ENSG00000130147 10826 09285 605611 REVIEWED 1604508 SH3D20 SH3 domain containing 20 17 17 17 q21.31 40216087 40219651 - 40862501 40867570 - 43506718 43510282 - 6480464 12477932;20070850 201175 AC091132;AC217778;AF258593;AK290650;BC067345;CH471178;NM_174919 AAG23796;AAH67345;BAF83339;EAW51527;NP_777579;Q6ZUM4 Hs.205326 ARHGAP27;PP905;SH3P20 CIN85-associated multi-domain-containing Rho GTPase-activating protein 1;PP905;rho GTPase-activating protein 27;rho-type GTPase-activating protein 27 protein-coding 27311 18575 733305 SH3BP5 SH3-domain binding protein 5 (BTK-associated) 3 3 3 p24.3 15234616 15321139 - 15271361 15357905 - 15295860 15382901 - 1580863;6480464 9571151;10339589;16964243;15506969;15489334;15158451;15146197;14702039;12477932;12167088;10702676;21832049;17043677;16344560;21956439;22488850;21890473;21906983;15342556 9467 C9J140;C9JK30;C9JNW0;F8WDU8;O60239 AA843106;AB005047;ABBA01025141;ABBA01025142;AC087590;AK090524;AK313167;AL117422;AMYH01013001;AW673562;BC006169;BC010123;BC023195;BG475051;BP308415;BX114836;BX641159;CA429664;CH471055;CN402267;DA530463;NM_001018009;NM_004844 AAH10123;ABM83801;ABW03526;BAA25922;BAG35985;BAG52178;CAE46071;CAI46220;EAW64225;EAW64226;EAW64227;EAW64228;NP_001018009;NP_004835;O60239 Hs.257761;Hs.744025 1338596;1650108;1689714;1698718;1730275;1735096;1763173;1858200;2112622 D3S1323E;D3S2776E;D3S3542;D3S3613;D3S4373;RH102919;RH66166;SHGC-146904;SHGC-76742 SAB;SH3BP-5 OTTHUMP00000208288;OTTHUMP00000208289;OTTHUMP00000208291;OTTHUMP00000208294;SH3 binding protein;SH3 domain-binding protein 5;SH3 domain-binding protein that preferentially associates with BTK;SH3BP-5 protein-coding ENSG00000131370 10827 12030 605612 VALIDATED 1605862 SH3D19 SH3 domain containing 19 This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 4 4 4 q31.3 149365961 149472384 - 152260886 152367022 - 152041433 152149182 - 6480464 17672918;16858696;16344560;16341674;15280379;14702039;14551139;12477932;12107413;8889548;12615363;11031247;11252894;17116749;18029348;20936779;20360068;19322201;19531213 152503 Q5HYK7;Q6PJX8 ABBA01070106;ABBA01070107;ABBA01070108;ABBA01070109;AC095055;AK092528;AK128493;AK291025;AK294476;AL133047;AMYH01014614;AMYH01014615;AMYH01014616;AW263019;BC010110;BC032404;BC032468;BC045742;BC085613;BC108890;BC108891;BC108892;BC108893;BF109395;BM670337;BM831166;BX647422;CD675494;CF541231;CH471056;DB277036;DB278138;NG_029721;NM_001009555;NM_001128923;NM_001128924;NM_001243349 AAH10110;AAH32468;AAH45742;AAH85613;AAI08891;AAI08892;AAI08893;AAI08894;BAF83714;BAG52566;BAG54685;BAH11782;CAB61374;CAI46052;EAX04986;EAX04987;NP_001009555;NP_001122395;NP_001122396;NP_001230278;Q5HYK7 Hs.744983 1341513;1651021;1661451;1663472;1676732;1768369;1769046;1788456;5093976;7183421 A009Z47;D4S1548;G33033;RH98990;SHGC-31182;SHGC-33844;SHGC-57501;STS-N39590;fk48f12.x1 EBP;EVE1;Kryn;MGC105136;MGC118910;MGC118911;MGC118912;MGC118913;SH3P19 ADAM binding protein Eve-1;ADAM-binding protein Eve-1;EEN binding protein;EEN-binding protein;OTTHUMP00000204946;OTTHUMP00000205640;OTTHUMP00000220254;SH3 domain protein D19;SH3 domain-containing protein 19 APPROVED protein-coding ENSG00000109686 30418 16364 608674 REVIEWED 1605948 SH3D21 SH3 domain containing 21 1 1 1 p34.3 35047088 35062073 + 36545305 36563074 + 36771994 36786948 + 6480464 17924679;16344560;15489334;15146197;14702039;12477932;10737800 79729 B5MDU9;D6RD64;Q9H5W5 ABBA01023302;ABBA01023303;AK026591;AK056459;AK297015;AL591845;AMYH01000494;AMYH01000495;AW194075;BC036763;BC048273;BC101676;BC101678;BE537168;BG003040;CH471059;CN285484;CN292095;DB034996;DC423360;NM_001162530;NM_024676;R61532 A4FU49;AAH36763;AAH48273;AAI01677;AAI01679;BAB15504;BAB71191;BAG59548;EAX07374;EAX07375;EAX07376;NP_001156002;NP_078952 Hs.524496 1665865;1666584;1856839;5493337 RH68220;SHGC-58104;SHGC-74603;UniSTS:485775 C1orf113;FLJ22938 OTTHUMP00000009601;OTTHUMP00000217735;SH3 domain-containing protein 21;SH3 domain-containing protein C1orf113 APPROVED protein-coding ENSG00000214193 26236 08011 VALIDATED 1343139 SH3GL2 SH3-domain GRB2-like 2 9 9 p22 17569194 17787122 + 17578953 17797122 + 1580863;6480464;6907045 10542231;16115810;9169142;10567358;11894095;12218189;15962011;11157096;19165527;19010793;18602463;18239974;17081983;16713569;16606361;16169070;15164053;14684745;12477932;12177062;12127567;12034747;11894096;11877424;11384986;11292345;10816441;10764144;12456676;10535961;10531379;9341169;9315708;9238017;9122235;20512084;11031247;11252894;16374509;19679847;19734545;20379614;15919751;20944657;9651214;20445134;15456872;21163940;21832049;22939629;21829671;18029348;12672817;15834155;17174262;17437541;19722700;19343052;21900206;21044950;22451204;21988832;23251661;22998870;23029364 6456 F5H5J3;Q7Z376;Q8IZ09;Q99962 AB206840;ABBA01065232;ABBA01065233;ABBA01065234;ABBA01065235;AF036268;AK057744;AK293546;AK293592;AK302273;AK312400;AL133214;AL139115;AMYH01019258;BC032825;BT019682;BX538074;CH471071;CR542086;CR542102;DC309737;NM_003026;X99657 AAC04764;AAH32825;AAV38488;BAE44459;BAG35315;BAH11530;BAH11542;BAH13663;CAA67971;CAD97999;CAG46883;CAG46899;EAW58661;EAW58662;EAW58663;NP_003017;Q99962 Hs.75149 1335847;1669878;1707524;1727397;1767932;1779820;1857490;5037293;7187579 D9S157;G63106;RH12259;RH47487;SH3GL2_8623;SHGC-153793;SHGC-84568;T15988 CNSA2;EEN-B1;FLJ20276;FLJ25015;SH3D2A;SH3P4 Endophilin A1 BAR domain;OTTHUMP00000021084;SH3 domain protein 2A;SH3 domain-containing GRB2-like protein 2;bA335L15.1 (SH3-domain GRB2-like 2);endophilin-1;endophilin-A1 protein-coding ENSG00000107295 10831 05125 604465 VALIDATED 731323 SH3GL3 SH3-domain GRB2-like 3 15 15 q24 81907287 82078495 + 84116091 84287495 + 1580863;6480464;6907045 21722156;16115810;9169142;19308258;19266077;18391951;18391950;16713569;16169070;15919751;15383276;15342556;14551139;12477932;12477732;12177062;12135478;12034747;11894096;10816441;10764144;10542231;10535961;9809064;9238017;9122235;20546612;18602463;19807924;20397748;20531441;22901147;21139048;21900206;22998870 6457 H3BRH8;Q8IVP1;Q99963 ABBA01029441;ABBA01029442;AC025483;AC087738;AC090083;AF036269;AF036270;AF036271;AF036272;AK307442;AK309086;AL109775;AMYH01006861;AMYH01006862;AMYH01006863;AMYH01006864;BC035598;BC042864;BP228213;CH471188;NM_003027;NR_026799;X99664 AAC04765;AAC04766;AAC04767;AAC04768;AAH42864;CAA67978;CAB52431;EAW62419;EAW62420;EAW62421;EAW62422;EAW62423;NP_003018;Q99963 Hs.270055;Hs.666365 1337181;1653329;1665935;1671818;1722337;1759117;1767647;2107571;2125019;2125912;2136339;2136393;2152228 2038;BCD1457;D15S205;D15S660;D15S819;D15S944;G10450;G60237;RH70954;RH79009;SH3GL3__6824;SHGC-2201;SHGC-30592 CNSA3;EEN-2B-L3;EEN-B2;HsT19371;SH3D2C;SH3P13 OTTHUMP00000190869;OTTHUMP00000211646;SH3 domain protein 2C;SH3 domain-containing GRB2-like protein 3;endophilin-3;endophilin-A3 protein-coding ENSG00000140600 10832 04528 603362 VALIDATED 7241968 SH3PXD2A-AS1 SH3PXD2A antisense RNA 1 14702039;16344560 100505839 ABBA01063091;AK056784;AL133355;AMYH01003030;DA422325;NR_038940 Hs.655149 1718065;2147444 RH122650;STS-AA029714 miscrna 45242 VALIDATED 1351797 SH3GL1 SH3-domain GRB2-like 1 This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 19 19 p13.3 4311367 4351471 - 4360364 4400565 - 6480464;6907045;7240710 16169070;9169142;16115810;15944398;15752756;15489334;15214844;15077184;14702039;14551139;12477932;12034747;10816441;10764144;10542231;9238017;9122235;11894096;16189514;22183150;21988832;22053931;23000965;16990610;19060904;20627007;22863883;17891136;22750032;18029348;22360420;22558309;21139048;21900206;20963938;17428861;22167186;23050879;22998870 6455 M0QYE0;M0R0I3;M0R2K6;Q6FGM0;Q99961 ABBA01056075;ABBA01056076;AC007292;AC011498;AF190465;AK097616;AK299166;AK315450;AMYH01009329;AMYH01009330;AMYH01009331;AY364240;BC000089;BC001094;BC001270;BC014387;BC098565;BU838380;CH471139;CK820395;CR542087;NG_028084;NM_001199943;NM_001199944;NM_003025;U65999;X99656 AAB86800;AAD24591;AAF04290;AAH00089;AAH01094;AAH01270;AAH14387;AAH98565;AAQ76799;ABM82184;ABM85370;BAG37838;BAG61213;CAA67970;CAG46884;EAW69227;EAW69228;EAW69229;NP_001186872;NP_001186873;NP_003016;Q99961 Hs.97616 1339612;1714563;1732147;1732149;1855639 D19S894;D7S836;D7S845;RH119795;STS-F10175 CNSA1;EEN;MGC111371;SH3D2B;SH3P8 EEN fusion partner of MLL;SH3 domain GRB2-like 1;SH3 domain protein 2B;SH3 domain-containing GRB2-like protein 1;SH3-containing Grb-2-like 1 protein;SH3-containing protein EEN;endophilin-2;endophilin-A2;extra 11-19 leukemia fusion;extra eleven-nineteen leukemia fusion;extra eleven-nineteen leukemia fusion gene protein;fusion partner of MLL APPROVED protein-coding ENSG00000141985 10830 03462 601626;601768 REVIEWED 1349978 SH3PXD2B SH3 and PX domains 2B This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome. [provided by RefSeq, Sep 2010] 5 5 5 q35.1 167792626 167913367 - 171693108 171814132 - 171760503 171881527 - 737633;6480464;7240710 12477932 19228371;18959745;14702039;11181995;10718198;19144821;20609497;19807924;20137777;20379614;20943948;19755710;22939629;21886807;21139048;21706016;21890473;23000965;19531213;22318606;22829589 285590 A1X283;G3V144;H0YAU1 AB037716;AB430862;ABBA01044047;AC008671;AC011407;AC090064;AK000838;AK095834;AK128871;AMYH01015814;AMYH01015815;BC016513;BC038561;BC065230;BC110316;CA308160;CH471062;DQ109556;NG_027746;NM_001017995 A1X283;AAI56243;AAI57117;AAZ99795;BAA91395;BAA92533;BAG81977;EAW61431;EAW61432;EAW61433;EAW61434;EAW61435;NP_001017995 Hs.285666 1643796;1650804;1700174;1740457;2143132;5037552 D5S1852;D5S2257E;D5S2401;D8S2279;RH103701;RH65087 FAD49;FLJ20831;FTHS;HOFI;KIAA1295;TKS4;TSK4 OTTHUMP00000223471;OTTHUMP00000223472;SH3 and PX domain-containing protein 2B;adapter protein HOFI;adaptor protein HOFI;factor for adipocyte differentiation 49;kiaa1295;tyrosine kinase substrate with four SH3 domains APPROVED protein-coding ENSG00000174705 29242 18591 249420;613293 REVIEWED 1322510 SH3PXD2A SH3 and PX domains 2A 10 10 q24.33 105343774 105605154 - 105353784 105615164 - 6480464 19540230;17440933;15710903;15710328;15164054;15146197;14702039;12615925;9687503;9455477;20609497;20562859;16374509;19464300;19755710;19807924;19837132;20379614;12672817;22584907;22745667;18417249;21139048;21890473;21906983;21963094;20309963;19322201;22249020 9644 B3KPL1;B7Z9C6;F5GZ35;F8WCK5;H0Y507;Q5TCZ1 AB007878;ABBA01063090;ABBA01063091;ABBA01063092;ABBA01063093;AK025783;AK056469;AK096575;AK123570;AK294454;AK294736;AK295314;AK295660;AK302015;AK304828;AK315983;AL121929;AL133355;AL833070;AMYH01003027;AMYH01003028;AMYH01003029;AMYH01003030;BX647371;CH471066;CN307901;NM_014631 AAI46310;AAI56573;BAA24848;BAG51723;BAH11772;BAH11864;BAH12031;BAH12146;BAH13608;BAH14262;BAH14354;CAD89969;EAW49622;EAW49623;EAW49624;EAW49625;NP_055446;Q5TCZ1 Hs.678727 1341095;1341234;1653178;1653180;1659382;1674226;1688098;1690846;1697566;1704596;1718065;1730974;1730976;1731000;1736146;1760021;1851229;2129885;2132664;2147444;2157264;2168536;5022651 A005K38;BCD1265;D10S1268;D10S1400E;D10S1668;D10S346;D10S361;D10S383;D11S2921;D3S3985;G20290;RH102293;RH122650;RH48899;RH92781;RH93063;SGC33314;SHGC-106571;SHGC-57337;SHGC-83111;STS-AA029714;STS-N31939;UniSTS:73411 FISH;SH3MD1;TKS5;TSK5 OTTHUMP00000020419;OTTHUMP00000020421;SH3 and PX domain-containing protein 2A;SH3 multiple domains protein 1;adapter protein TKS5;adaptor protein TKS5;five SH3 domain-containing protein;five SH3 domains;tyrosine kinase substrate with five SH3 domains protein-coding ENSG00000107957 23664 10228 VALIDATED 6767497 SH3RF3-AS1 SH3RF3 antisense RNA 1 2 q12.3 109743783 109746575 - 8619474;9110174 100287216 ABBA01000771;AC133109;AF035291;AK297376;AMYH01010857;NR_029193 BAH12566 Hs.171244 1699662 RH103435 APPROVED miscrna 44168 VALIDATED 1344960 SH3RF3 SH3 domain containing ring finger 3 2 2 2 q13 104055768 104430967 + 109616360 109619489 + 109745997 110107395 + 6480464 16374509;14702039;20379614;20696164 344558 C9JNJ4;H7BZP9;Q8TEJ3 ABBA01000771;ABBA01000772;ABBA01000773;ABBA01000774;ABBA01000775;ABBA01000776;ABBA01000777;ABBA01000778;ABBA01000779;ABBA01009001;AC010906;AC109344;AC133109;AC139850;AC140485;AC153804;AC233025;AK074131;AK093821;AL831825;AMYH01010857;AMYH01010858;DQ307286;NM_001099289 ABC25188;BAB84957;CAD38539;NP_001092759;Q8TEJ3 Hs.171244;Hs.535157 1334519;1342401;1663674;1699662;1714843;1730475;1759705;1781612;2129119;2173823;2183880 D2S1891;D2S1893;D2S199;HSC16A112;IB846;RH103435;RH11810;RH120416;RH65580;SHGC-152525;SHGC-153258 FLJ00204;POSH2;SH3MD4 OTTHUMP00000203907;OTTHUMP00000203921;SH3 domain-containing RING finger protein 3;SH3 multiple domains 4;SH3 multiple domains protein 4;plenty of SH3s 2;plenty of SH3s-2 protein-coding 24699 PROVISIONAL 1314186 SH3GLB2 SH3-domain GRB2-like endophilin B2 9 9 9 q34 102422625 102442892 - 130810134 130830400 - 131770313 131790579 - 1580863;6480464;6907045 12477932;11347906;11894096;11894095;16518874;11161816;18303116;16189514;15498874;15489334;15164053;14559993;20562859;18029348;20379614;22863883;22939629;16849557;21266059;21139048;21890473;21906983 56904 B7ZC38;B7ZC39;F8WFB9;G5E9J1;H7C1Z6;Q9NR46 AB058751;ABBA01043913;AF257319;AF258589;AF370426;AF370433;AL592211;AL832592;AMYH01021754;BC005843;BC008029;BC014635;CH471090;NM_020145 AAF81226;AAG23792;AAH14635;AAQ15262;AAQ15269;ACE86915;ACE87602;BAB47477;EAW87854;EAW87855;EAW87856;EAW87857;EAW87858;EAW87859;EAW87860;NP_064530;Q9NR46 Hs.460238 1802212;1802388;1803028;1803850;1804222;1804980;1805202;1807312;1816804;1822000;1826288;1830766;1835324;1836074;1837374;1838182;1841522;1842078;1842754;1845594;1931330;1931332;1931334;1931336;1931338;1931340;1931342;1931344;1931346;1931348;1931350;1931352;1931354;1931356;1931358;1931360;1931362;1931364;1931366;1931368;1931370;1931372;1931374;1931376;1931378;1931380;1931382;1931384;1931386;1931388;1931390;1931392;1931394;1931396;1931398;1931400;1931402;1931404;1931406;1931408;1931410;1931412;1931414;1931416;1931418;1931420;1931422;1931424;1931426;1931428;1931430;1931432;1931434;1931436;1931438;1931440;1931442;1931444;1931446;1931448;1931450;1931452;1931454;1931456;1931458;1931460;1931462;1931464;1931466;1931468;1931470;1931472;2109833;2208152;2208154;2208156;2208158;2208160;2208162;2208164;2208166;2208168;2208170;2208172;2208174;2208176;2208178 ECD01989;ECD02079;ECD02405;ECD02836;ECD03033;ECD03430;ECD03544;ECD04626;ECD09448;ECD12086;ECD14256;ECD16519;ECD18817;ECD19198;ECD19854;ECD20263;ECD21958;ECD22242;ECD22584;ECD24015;REN36494;REN36495;REN36496;REN36497;REN36498;REN36499;REN36500;REN36501;REN36502;REN36503;REN36504;REN36505;REN36506;REN36507;REN36508;REN36509;REN36510;REN36511;REN36512;REN36513;REN36514;REN36515;REN36516;REN36517;REN36518;REN36519;REN36520;REN36521;REN36522;REN36523;REN36524;REN36525;REN36526;REN36527;REN36528;REN36529;REN36530;REN36531;REN36532;REN36533;REN36534;REN36535;REN36536;REN36537;REN36538;REN36539;REN36540;REN36541;REN36542;REN36543;REN36544;REN36545;REN36546;REN36547;REN36548;REN36549;REN36550;REN36551;REN36552;REN36553;REN36554;REN36555;REN36556;REN36557;REN36558;REN36559;REN36560;REN36561;REN36562;REN36563;REN36564;REN36565;SH3GLB2_8070;stSG628128;stSG628129;stSG628130;stSG628131;stSG628132;stSG628133;stSG628134;stSG628135;stSG628136;stSG628137;stSG628138;stSG628139;stSG628140;stSG628142 KIAA1848;PP6569;PP9455;RRIG1 OTTHUMP00000022319;OTTHUMP00000022320;OTTHUMP00000043254;OTTHUMP00000206382;OTTHUMP00000206383;SH3 domain-containing GRB2-like protein B2;SH3-containing protein SH3GLB2;endophilin-B2;retinoid receptor-induced gene 1 protein-coding ENSG00000148341 10834 15334 609288 PROVISIONAL 732890 SH3KBP1 SH3-domain kinase binding protein 1 This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] X X p22.1-p21.3 19463441 19815640 - 19552083 19905744 - 1580863;6480464;6907045 17606992;22791810;16733801;21725061;12029088;17474147;10679202;11894095;12218189;15962011;18029348;16407834;19268472;19166927;18680311;18266907;18048363;17823309;17675467;17306257;17255943;17081983;16895919;16751601;16678097;16256071;16228008;16223483;16177060;16083285;15824310;15761153;15719014;15707590;15489334;15456872;15147912;15144186;15090612;14596919;12946264;12829691;12771190;12734385;12690097;12618476;12477932;12177062;12135478;11894096;11474197;11152963;11071869;10921882;10858458;9857189;9507006;8889549;7566098;20216986;20457601;22558309;20927317;15107835;20221403;12874286;15342556;15557335;20130058;21275903;21372129;21446695;21635887;21822214;20360068;20654576;21191027;21900206;22262777;21139048;19322201;20473970;22833562;15476827;16537602;16849543;17020880;17174262;17428861;18076569;18362180;18641129;19111555;19417776;19531213;20711168;21830225;22203040;22623531;22745667;22939629;20467438;22815893;23279575;17072306 30011 B7Z6E8;Q5JPT1;Q5JPT2;Q5JPT3;Q5JPT6;Q5VSN0;Q96B97 ABBA01071776;ABBA01071777;ABBA01071778;ABBA01071779;ABBA01071780;ABBA01071781;ABBA01071782;ABBA01071783;ABBA01071784;ABBA01071785;ABBA01071786;ABBA01071787;ABBA01071788;ABBA01071789;ABBA01071790;ABBA01071791;ABBA01071792;ABBA01071793;ABBA01071794;ABBA01071795;ABBA01071796;ABBA01071797;ABBA01071798;ABBA01071799;ABBA01071800;ABBA01071801;ABBA01071802;ABBA01071803;ABBA01071804;ABBA01071805;ABBA01071806;ABBA01071807;ABBA01071808;ABBA01071809;ABBA01071810;ABBA01071811;ABBA01071812;ABBA01071813;ABBA01071814;AF230904;AF329267;AF329268;AF542051;AK293234;AK293237;AK300189;AK307276;AK313308;AL732325;AL732327;AL732409;AL732423;AL772197;AMYH01022128;AMYH01022129;AMYH01022130;AY423734;AY542305;BC015806;BC041055;BC050663;BP224209;CH471074;CS300518;DC359739;DC409010;DR000949;NG_021367;NM_001024666;NM_001184960;NM_031892 AAF37854;AAH15806;AAH50663;AAK95587;AAN77231;AAO13348;AAS00497;AAT08174;ABM83313;ABM86526;BAG36113;BAH11470;BAH11471;BAH13234;CAK32182;EAW98964;EAW98965;EAW98966;EAW98967;NP_001019837;NP_001171889;NP_114098;Q96B97 Hs.726365 1682876;1702416;1702694;1703106;1703158;1726913;1773119;1787254;1791189;1791201;1791213;1791231;1791233;2125397;2141999;2145700;2157244;2175753;7185916 187J3_T7;24O6_T7;442A14_SP6;692N21_SP6;692N21_T7;DXS3424;DXS443;DXS8004;DXS8005;DXS8176;DXS9770;G31065;G62700;L77818;RH18201;RH45953;RH94355;SHGC-143702 CD2BP3;CIN85;GIG10;HSB-1;HSB1;MIG18 CD2-binding protein 3;OTTHUMP00000023022;OTTHUMP00000023024;OTTHUMP00000023025;OTTHUMP00000023028;SH3 domain-containing kinase-binding protein 1;Src family kinase-binding protein 1;c-Cbl-interacting protein;cbl-interacting protein of 85 kDa;human Src family kinase-binding protein 1;migration-inducing gene 18;src-related kinase binding protein-1 APPROVED protein-coding ENSG00000147010 13867 02301 300374 REVIEWED 1318168 SH3RF2 SH3 domain containing ring finger 2 5 5 5 q32 141396292 141522973 + 145296335 145423048 + 145316126 145442879 + 737633;1580863;6480464 12477932 15489334;15342556;14702039;21145461;19807924;19945436;20379614;19690564;21832049;23080069;19389623;22128169;22321011 153769 Q08AM8;Q8TEC5 ABBA01026345;AC005216;AC005351;AC011359;AC091887;AK058046;AK074234;AK292576;AK302024;AL833297;AMYH01015680;BC031650;BC073914;BC125106;BC125107;BP352041;CH471062;NM_152550 AAH31650;AAH73914;AAI25107;AAI25108;BAB71639;BAB85025;BAF85265;BAG63422;EAW61852;EAW61853;EAW61854;NP_689763;Q8TEC5 Hs.443728 1340584;1676552;1740469;1760277;1780574;2181464;5015619;5022578;5022588;5022651;5022733;5024510;5037552 D11S2921;D11S3114;D13S1552;D1S1423;D5S1597E;D5S2099;D5S2266E;D5S608;D8S2279;RH99232;SH3RF2;SHGC-132799;bac51213T FLJ23654;HEPP1;MGC149788;MGC149789;MGC90410;POSHER;PPP1R39;RNF158 OTTHUMP00000160093;OTTHUMP00000223636;POSH-eliminating RING protein;RING finger protein 158;SH3 domain containing ring finger 2;SH3 domain-containing RING finger protein 2;heart protein phosphatase 1-binding protein;protein phosphatase 1 regulatory subunit 39;protein phosphatase 1, regulatory subunit 39;putative E3 ubiquitin-protein ligase SH3RF2 APPROVED protein-coding ENSG00000156463 26299 10229 613377 VALIDATED 734100 SHANK1 SH3 and multiple ankyrin repeat domains 1 19 19 q13.3 55856896 55912007 - 51165084 51220195 - 1580863;6480464;6907045 21901269;10551867;11583995;16192279;15673434;12954649;12753155;12626503;12504591;11509555;11178875;11087996;10964907;10958799;10806096;10433269;10433268;16217014;19416473;20936779;22503632 50944 H9KV90;M0QYB5;Q9Y566 ABBA01068305;ABBA01068306;ABBA01068307;ABBA01068308;AC008743;AC010325;AF163302;AF226728;AMYH01009942;AMYH01009943;CH471135;NM_016148 AAD45121;AAF35887;EAW71893;EAW71894;NP_057232;Q9Y566 Hs.274255 SPANK-1;SSTRIP;synamon OTTHUMP00000174437;OTTHUMP00000174438;SH3 and multiple ankyrin repeat domains protein 1;SSTR-interacting protein;somatostatin receptor-interacting protein protein-coding ENSG00000161681 15474 05413 604999 VALIDATED 1312539 SH3GLB1 SH3-domain GRB2-like endophilin B1 This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 1 1 p22 86942845 86986455 + 87170253 87213867 + 6480464;6907045 11161816;19132989;19125733;19074440;18824435;18752120;18474606;16916719;16763557;16710414;16227588;15489334;15452144;14704270;14702039;12477932;12456676;11259440;10810093;10531379;9455484;8125298;11384986;11431473;18833585;11894096;20643123;15978591;16696976;18029348;19805544;20159967;22785202;20562859;21832049;16344560;21068542;22863883;21283040;19341794;19471022;21139048;21906983;21963094;21988832;16374509;22505724;22797925 51100 Q9Y371 AB007960;ABBA01045611;AF151819;AF257318;AF263293;AF350371;AI936794;AK001954;AK225864;AK303710;AL049597;AMYH01000767;BC007455;CH471097;DB038227;DB451777;NG_030018;NM_001206651;NM_001206652;NM_001206653;NM_016009 AAD34056;AAF73017;AAF81225;AAH07455;AAK27365;ABM83955;ABM87272;BAA91999;BAD88797;BAG64694;EAW73181;EAW73182;NP_001193580;NP_001193581;NP_001193582;NP_057093;Q9Y371 Hs.136309 1659873;1665125;2146560;5015961 D15S1477;D1S3283;SHGC-33734;SHGC-75080 Bif-1;CGI-61;KIAA0491;PPP1R70;dJ612B15.2 Bax-interacting factor 1;OTTHUMP00000011912;OTTHUMP00000011913;SH3 domain-containing GRB2-like protein B1;SH3-containing protein SH3GLB1;endophilin B1;endophilin-B1;protein phosphatase 1, regulatory subunit 70 APPROVED protein-coding ENSG00000097033 10833 15333 609287 REVIEWED 6481151 SHANK2-AS2 SHANK2 antisense RNA 2 100874199 AP000590 APPROVED miscrna 40015 1315058 SH3YL1 SH3 domain containing, Ysc84-like 1 (S. cerevisiae) 2 2 2 p25.3 281261 326708 - 208155 254158 - 218136 264068 - 737633;6480464 12477932 16344560;16189514;14702039;12615363;10771491;16169070;17207965;21624956;22745667 26751 C9J4Z8;C9JJI3;F5GYQ6;H7C1B8;H7C499;Q96HL8 ABBA01035630;ABBA01035631;AC079779;AK026507;AK026586;AK055801;AK096440;AK123829;AK292312;AL050373;AMYH01010044;BC008374;BC008375;BC013286;BC030778;BC034974;BC043234;BC043403;CK821806;CR457361;DB244375;NM_001159597;NM_015677 AAH08374;AAH08375;AAH30778;AAH34974;AAY14957;ACE86416;ACE86417;ACE87092;ACE87093;ADQ32282;BAB15493;BAF85001;CAB43679;CAG33642;NP_001153069;NP_056492;Q96HL8 Hs.515951 1653529;1699146;2141847;5020948;5022450;5109281 D10S275;D1S1425;G35510;RH103149;STS-AA024860;WI-21834 DKFZp586F1318;FLJ39121;RAY OTTHUMP00000199899;OTTHUMP00000199900;OTTHUMP00000199901;OTTHUMP00000199903;OTTHUMP00000199904;OTTHUMP00000199906;OTTHUMP00000199907;SH3 domain-containing YSC84-like protein 1 protein-coding ENSG00000035115 29546 15336 VALIDATED 6481154 SHANK2-AS1 SHANK2 antisense RNA 1 11 70477199 70481595 + 14702039 100874198 ABBA01010312;AK097446;AMYH01003782;AP001271;NR_046567 Hs.656610 1771695 A008P15 APPROVED miscrna ENSG00000226627 40014 VALIDATED 1348094 SH3RF1 SH3 domain containing ring finger 1 This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008] 4 4 4 q32.3 167346760 167524236 - 170251982 170428824 - 170015407 170192249 - 1302763;1580863;6480464 9482736 17535800;16344560;15659549;14702039;14504284;12477932;12421765;10819331;20936779;20974134;16230351;16374509;19393081;19710010;20379614;21586138;21139048;21906983;22128169 57630 D6RAL3;D6RHX5;H0YA90;Q7Z6J0 AB040927;ABBA01070337;ABBA01070338;AC021151;AC096741;AC104783;AK021429;AK025255;AK026726;AMYH01014699;BC033203;BC041023;BC053671;CH471056;DA292937;NM_020870 AAH33203;AAH41023;AAH53671;BAA96018;BAB13822;EAX04792;EAX04793;EAX04794;NP_065921;Q7Z6J0 Hs.301804 1657646;1686170;1697826;1710416;1717989;1718669;1718731;1739325;1772635;2107573;2114725;2120758;2129788;2186653 D4S2770E;D4S2840;D4S3122;D4S516;G33624;RH102438;RH122611;RH123022;RH123053;RH92786;SH3MD2__6826;SHGC-24796;SHGC-67757;SHGC-82499 FLJ21602;KIAA1494;POSH;RNF142;SH3MD2 E3 ubiquitin-protein ligase SH3RF1;OTTHUMP00000219547;SH3 domain-containing RING finger protein 1;SH3 multiple domains protein 2;plenty of SH3 domains;plenty of SH3s;putative E3 ubiquitin-protein ligase SH3RF1;ring finger protein 142 APPROVED protein-coding ENSG00000154447 17650 15335 REVIEWED 1313741 SH3TC1 SH3 domain and tetratricopeptide repeats 1 4 4 4 p16.1 8092937 8134682 + 8251960 8293730 + 8201060 8242830 + 1580863;6480464 19240061;14702039;12477932;8125298;20379614 54436 B3KWX8;D6RC98;D6REB6;D6RI07;E7EQR1;F5GXD3;H0Y9A4;H0YA34;H0YAJ7;Q6NVH2;Q8TE82 ABBA01008688;ABBA01008689;AC104650;AK000363;AK057561;AK074093;AK074402;AK093562;AK126165;AK128258;AK222865;AK310552;AMYH01013928;BC030283;BC068094;BC131785;CH471131;NM_018986 AAH68094;AAI31786;AAI68362;AAY40932;BAA91112;BAB84919;BAB85071;BAD96585;BAG54290;EAW82347;EAW82348;EAW82349;EAW82350;EAW82351;EAW82352;EAW82353;NP_061859;Q8TE82 Hs.479116 1336961;1673562;1681084;1687245;2109835;2142594 D4S1219;D4S2923;RH93793;SH3TC1_9781;SHGC-50906;SHGC-67314 FLJ20356;FLJ32999;FLJ36243;FLJ46394 OTTHUMP00000115586;SH3 domain and tetratricopeptide repeat-containing protein 1;SH3 domain and tetratricopeptide repeats-containing protein 1 protein-coding ENSG00000125089 26009 11556 VALIDATED 1348846 SH3TC2 SH3 domain and tetratricopeptide repeats 2 This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008] 5 5 q32 148341906 148422930 - 148361713 148442737 - 1580863;6480464;7240710 19240061;18511281;17470135;16344560;16326826;15498874;15489334;14702039;14574644;12477932;11853319;11752282;11716477;8894708;19272779;19744956;20028792;20379614;20301514;22318606;20301641;22950825 79628 C9JLC3;D6RA65;D6RFX2;E9PDF1;F5GYY0;H0Y8Q9;H0Y9E7;Q14CC0;Q8TF17 AB070621;AB075865;ABBA01026312;AC011364;AC116312;AF086088;AK023641;AK023667;AK092408;AK124854;AK127050;AK127241;AK127248;AK127442;AK128209;AK300420;AK309932;AL832651;AMYH01015700;AY341075;BC113879;BC114486;DA856608;NG_007947;NM_024577 AAI13880;AAI14487;AAR03497;BAB14631;BAB85571;BAC86899;BAG54107;BAG54431;BAG54462;BAG54650;BAH13280;NP_078853;Q8TF17 Hs.483784 1335530;1649291;1665239;1689544;1705886;1778199;2115593;2117381;2173552;5022578;5022651;5037552 AFM198zh6;D11S2921;D1S1423;D5S2647;D5S2654;D5S413;D8S2279;RH70055;SHGC-81207;STS-N34331;STS-R77678;WI-22716 CMT4C;FLJ13605;KIAA1985;MNMN OTTHUMP00000160383;OTTHUMP00000223904;OTTHUMP00000223905;OTTHUMP00000223921;SH3 domain and tetratricopeptide repeat-containing protein 2;SH3 domain and tetratricopeptide repeats-containing protein 2 APPROVED protein-coding 29427 10496 601596;608206;613353 REVIEWED 7204625 SHANK2-AS3 SHANK2 antisense RNA 3 11 q13.4 70708895 70711220 + 12477932;15489334 220070 Q9BTD1 ABBA01010315;AMYH01003782;AP003783;BC004224;CH471076;NR_073536;XR_110890;XR_111196;XR_171127;XR_171904 AAH04224;EAW74783;Q9BTD1 Hs.326766 C11orf76 miscrna ENSG00000171671 25098 14132 VALIDATED 1353619 SHC1P1 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1 X X X q11.1 63998885 64002376 + 63652303 63655365 + 63652063 63655554 + 6480464 9192859 6465 ABBA01066896;AL034408;AMYH01022495;NG_001195;Y09846 1729343 G64102 pseudo 10841 INFERRED 732251 SHANK3 SH3 and multiple ankyrin repeat domains 3 This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] 22 22 q13.3 49459936 49518507 + 51113070 51171640 + 1599213;6480464;6907045;7240710 12920066 17474147;19384346;19371741;18615476;19077115;18505557;17999366;17173049;16284256;14702039;12504591;12477932;11431708;11258795;10806096;10414979;10527873;11509555;12626503;20301377;16637659;19454329;19566951;19736351;20080650;20385823;20442744;21271662;21062623;21988832;22966748;23080069;10506216;10574750;10958799;12065602;15895082;16059935;17419801;18491060;19029687;19348707;19428206;19432386;21378602;21984749;19545994;19718887;20186804;20613842;20635403;20715264;20868653;21376300;21575668;21606927;21615902;21624971;21626699;21751912;21779178;21840719;22093425;22223503;22509352;23300510;22749736;23100419;23225497 85358 D7UT47;F2Z3L0;F5GZA1;M0QWZ9;Q9BYB0 AB051437;AB569469;ABBA01042613;ABBA01042614;ABBA01042615;ABBA01042616;AC000036;AC000050;AC002056;AK074038;AMYH01012921;AMYH01012922;AMYH01012923;AMYH01012924;BC018856;BC045765;BC062987;DQ173561;HQ848666;HQ848667;NG_008607;NM_033517 AAH62987;ABA00478;ADY38945;ADY38946;BAB33320;BAB84864;BAJ09793;NP_277052;Q9BYB0 Hs.149035 1656764;1729209 D22S1726;UniSTS:146590 DEL22q13.3;KIAA1650;PROSAP2;PSAP2;SCZD15;SPANK-2 SH3 and multiple ankyrin repeat domains protein 3;proline rich synapse associated protein 2;proline-rich synapse-associated protein 2;sh3/ankyrin domain gene 3;shank postsynaptic density protein APPROVED protein-coding ENSG00000251322 14294 606230;606232;613950 REVIEWED 1345976 SHC1P2 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2 17 17 17 q21.31 39013052 39016640 - 39659755 39663461 - 42304329 42307918 - 7635484 6466 ABBA01028381;AC003102;AMYH01008416;NG_004765;U31058 SHCL1 APPROVED pseudo 10842 600739 INFERRED 736232 SHANK2 SH3 and multiple ankyrin repeat domains 2 This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 11 11 q13.2 69991609 70185520 - 70313961 70935808 - 6480464;6907045;7240710 10506216;11583995;17081983;16554811;16293618;15489334;14702039;12626503;12504591;12477932;11087996;10964907;10806096;10527873;10470851;10433269;10373412;9742101;9110174;8619474;10433268;10844022;20301615;10958799;17474147;20080968;20473310;20531469;22699619;22346768;21994763;23149075;23251661;23432519 22941 A6NHU9;B7ZKU9;C0SPH0;C9JFP8;C9JW40;E7EUA2;E7EX50;H0Y7S5;H7BXK2;H7BZP8;H7BZV1;H7C027;H7C1X5;H7C2E9;H7C2J1;J3KQC3;Q9UPX8 AA464273;AB028945;AB208025;AB208026;AB208027;ABBA01010311;ABBA01010312;ABBA01010313;ABBA01010314;ABBA01010315;ABBA01010316;ABBA01017557;ABBA01017558;ABBA01017559;ABBA01017560;ABBA01017561;ABBA01017562;ABBA01017563;AC234421;AF131790;AF141901;AK095088;AK096045;AK128563;AMYH01003780;AMYH01003781;AMYH01003782;AMYH01003783;AMYH01003784;AMYH01003785;AP000590;AP001271;AP001648;AP003783;AP003967;AP004370;AP005401;BC041371;BC093885;BC112097;BC113876;BC114484;BC143389;BX648718;CH471076;DQ152234;NM_012309;NM_133266;U73633 AAF02496;AAH93885;AAI12098;AAI14485;AAI43390;AAI68372;AAZ77790;BAA82974;BAH37016;BAH37017;BAH37018;EAW74771;EAW74772;EAW74773;EAW74774;EAW74775;EAW74776;EAW74777;EAW74778;EAW74779;NP_036441;NP_573573;Q9UPX8 Hs.268726 1338255;1339850;1341088;1645867;1656246;1671094;1675539;1684678;1686288;1688945;1695950;1717055;1722039;1738017;1752283;1754955;1762225;1769815;1771098;1771695;1774163;1775290;1782392;2115464;2131062;2142278;2151535;2181605;5494080;7185728 A008P15;D11S1126;D11S1975;D11S2288E;D11S3627;D11S4057;D11S4139;D11S579;D11S971;D1S2718;G17560;G48072;G59906;RH124032;RH36039;RH36629;RH48629;RH66696;RH76480;RH91142;SHGC-106206;SHGC-141871;SHGC-146094;SHGC-154075;SHGC-78908;STS-T84114;UniSTS:24206;WI-14325;WIAF-2195 AUTS17;CORTBP1;CTTNBP1;ProSAP1;SHANK;SPANK-3 GKAP/SAPAP interacting protein;OTTHUMP00000165931;OTTHUMP00000165995;OTTHUMP00000165996;OTTHUMP00000166023;OTTHUMP00000166026;OTTHUMP00000202300;SH3 and multiple ankyrin repeat domains protein 2;cortactin SH3 domain-binding protein;cortactin-binding protein 1;proline rich synapse associated protein 1;proline-rich synapse associated protein 1;proline-rich synapse-associated protein 1 APPROVED protein-coding ENSG00000162105 14295 04479 603290;613436 REVIEWED 1350494 SHB Src homology 2 domain containing adaptor protein B 9 9 p13.2 37905895 38059210 - 37915895 38069210 - 1580863;2298729;6480464;6484113 17658244 9484780;8302579;16971391;16630561;16569669;15951569;15919073;15489334;15164053;15026417;14702039;12520086;12477932;12464388;12200137;12181353;12084069;11786545;10964504;10837138;10828022;10488157;9751119;8806685;7713524;7537362;10477520;20171287 6461 Q15464 ABBA01050384;ABBA01050385;AK055947;AL138752;AL161448;AL583849;AMYH01019361;BC029953;BC136581;BC136582;CH471071;NM_003028;X75342 AAI36582;AAI36583;CAA53091;EAW58254;EAW58255;NP_003019;Q15464 Hs.521482 1745127;1757971;1768640;1787020;2108469;2129390;2137776;2144444;2160187 D9S952;GDB:594944;RH12398;SHB_8624;SHGC-12007;SHGC-146997;SHGC-149857;STS-X75342;WI-19223 RP11-3J10.8;bA3J10.2 OTTHUMP00000021397;SH2 domain-containing adapter protein B;SHB (Src homology 2 domain containing) adaptor protein B;SHB adaptor protein (a Src homology 2 protein) protein-coding 10838 02635 600314 VALIDATED 1603608 SHARPIN SHANK-associated RH domain interactor 8 8 8 q24.3 141491053 141496661 - 145225524 145231128 - 145153536 145159140 - 6480464 18950845;15489334;12753155;12477932;11230166;11178875;20458142;22253853;22750873;15146197;21455180;20179993;20956555;22607974;21947080;22549881;21987572;21890473;21906983;22605335;21709223;22053931;23032186;23032187 81858 H0YCU2;Q6PJD5;Q9BUE4 AB052764;AB052765;ABBA01005225;AC104592;AK075518;AL136816;AMYH01019127;BC002688;BC017230;BC025244;BC034028;BE877614;BI911222;CH471162;CN260986;CS051355;FJ655995;NM_030974;NR_038270 AAH02688;AAH17230;AAH25244;AAH34028;ACN38058;BAC11666;BAC53797;BAC53798;CAB66750;CAI72172;EAW82150;EAW82151;EAW82152;EAW82153;EAW82154;EAW82155;EAW82156;NP_112236;Q9H0F6 Hs.529755 2124587 RH65611 DKFZp434N1923;SIPL1 OTTHUMP00000229042;OTTHUMP00000229043;hSIPL1;shank-associated RH domain-interacting protein;shank-interacting protein-like 1 protein-coding ENSG00000179526 25321 15463 611885 VALIDATED 736172 SHBG sex hormone-binding globulin This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein binds each steroid molecule as a dimer formed from identical or nearly identical monomers. The use of alternate promoters and alternatively spliced transcripts have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 17 17 p13-p12 7474216 7477395 + 7517382 7536700 + 1625245;1580863;2313783;2313787;2313782;2313784;2313785;6480464 17315164;18505902;17562326;19657112;18346991;17884445 19124506;19091090;19086053;19064572;19064566;19015200;19005973;18980759;18949680;18937076;18767927;18681858;18676680;18636124;18505907;18477206;18464913;18437557;18318428;18312604;18192296;18188141;18056923;18047273;17992261;17952758;17893265;17890489;17706202;17684316;17507624;17411440;17258903;17220347;17189294;17176215;17077994;17027364;17027360;16982738;16949385;16926255;16896040;16757555;16394089;16335952;16331562;16251630;16155373;15894658;15879463;15862967;15784702;15755867;15668497;15664449;15634719;15574421;15489334;15292305;15199113;15193539;15146368;15111517;15028279;14764814;14694008;14671199;14568572;12861158;12800098;12753385;12679434;12603009;12477932;12235141;12228253;12151349;12081841;12065592;12054810;12039072;12015315;11473114;11140838;10675319;10419028;10391209;8964583;7714097;3702459;3569533;3542030;19168589;2587256;14718574;19453261;19429700;19416531;19327605;19194113;19179433;22547569;22829776;2956126;2956125;2608061;2249477;1400872;20634197;20690069;20691435;20368409;20354921;20716560;20734064;20974254;19022535;20829367;20841609;19170196;19196890;19336534;19534810;19557594;19574343;19598235;19625176;19649728;19672706;19679209;19692168;19724880;19733622;19765778;19770023;19929279;19933169;19945451;20133463;20173016;20200332;20346360;20432167;20540673;21030499;20105436;21252242;21261118;20839151;20943702;22106826;22882730;21178921;21193555;22559844;21158891;21715040;22047952;18624398;21613632;21660442;22210320;22242800;21317201;21803356;21998597;21862168;22675492;21711374;22221653;22301786;22098307;22943902;22469296;22915343;22902540;22591465;23122048;22936694;23318050;23001781;23001782;23102785;23393169;23408572;22548950;22711300;23066943 6462 B0FWH2;B0FWH5;B0FWH6;B0FWH7;B4DYU0;I3L0M1;I3L145;I3L1C1;I3L1G4;I3L1J1;I3L2F1;I3L2X4;I3L4B9;I3L4D0;Q6ISD2 ABBA01054875;ABBA01054876;AC007421;AK302603;AMYH01008085;BC069597;BC101785;BC112186;CD013955;CD013957;CH471108;EU352656;EU352657;EU352658;EU352659;EU352660;EU352661;EU352662;EU352663;EU352664;EU352665;EU352666;EU352667;EU352668;EU352669;EU352670;EU352671;EU352672;EU352673;EU352674;EU352675;EU352676;M31651;NG_011981;NM_001040;NM_001146279;NM_001146280;NM_001146281;NR_027462;NR_027463;X05403;X05792;X05885;X16349;X16350;X16351 AAC18778;AAH69597;AAI01786;AAI12187;ABY67997;ABY67998;ABY67999;ABY68000;ABY68001;ABY68002;ABY68003;ABY68004;ABY68005;ABY68006;ABY68007;ABY68008;BAG63852;CAA28987;CAA29234;CAA29309;CAA34398;CAA34399;CAA34400;EAW90149;EAW90150;NP_001031;NP_001139751;NP_001139752;NP_001139753;P04278 Hs.632235 1673683;1690458;1792432;2139571;2183546 PMC150924P1;RH18329;RH66154;SHGC-166;SHGC-35513 ABP;MGC126834;MGC138391;SBP;TEBG OTTHUMP00000135293;androgen binding protein;sex hormone-binding globulin;sex steroid-binding protein;testis-specific androgen-binding protein;testosterone-binding beta-globulin;testosterone-estradiol-binding globulin;testosterone-estrogen-binding globulin APPROVED protein-coding ENSG00000129214 10839 01646 182205 REVIEWED 1350366 SHC2 SHC (Src homology 2 domain containing) transforming protein 2 19 19 p13.3 367583 411832 - 416583 460996 - 1299208;1580863;6480464;6907045 9507002 11520933;7527937;18029348;16368877;15057824;12477932;12006576;8760305;12446789;10749680;7739560;9790910;21658278 25759 K7EKS8;K7ENB2;P98077 AB001451;ABBA01002561;ABBA01002562;ABBA01002563;AC006124;AC008988;AC138433;AL134433;AL360254;AMYH01009182;AMYH01009183;BC030527;BC034544;BC048290;BQ025513;BU754380;BY796046;CF457169;CK826553;NM_012435 AAI56110;AAI56899;BAA25798;CAB96175;NP_036567;P98077 Hs.30965 1657714;2180228 RH41850;WI-14847 SCK;SHCB;SLI SH2 domain protein C2;SHC-transforming protein 2;SHC-transforming protein B;neuronal Shc adaptor homolog;protein Sck;src homology 2 domain-containing-transforming protein C2 protein-coding ENSG00000129946 29869 605217 VALIDATED 1602620 SHC4 SHC (Src homology 2 domain containing) family, member 4 15 15 15 q21.1-q21.2 26009561 26149272 - 46903226 47042933 - 49115934 49255641 - 6480464;6907045 17452444;17409413;12975309;12477932;20379614;20663410;21621269;22911880;20078941 399694 F5H5M1;H0YLU6;H0YLZ2;Q6S5L8 ABBA01039134;ABBA01039135;AC012379;AC091073;AK124916;AK125762;AK302156;AMYH01006629;AW102644;AY358250;AY464565;BC033907;NM_203349 AAH33907;AAQ88617;AAR19363;BAG54111;BAG54244;BAH13639;NP_976224;Q6S5L8 Hs.642615 1665366;1669494;1671310;1672324;1687389;1719337;1725313;1856041;2124664;2170034;2184479;5014726 G27429;RH118974;RH123395;RH15715;RH47286;RH47316;RH66594;SGC34499;SHGC-34647;STS-N93791;STS-R92213;WI-10566 MGC34023;RaLP;SHCD OTTHUMP00000162250;SH2 domain protein C4;SHC-transforming protein 4;SHC-transforming protein D;hShcD;rai-like protein;src homology 2 domain-containing-transforming protein C4 protein-coding ENSG00000185634 16743 15289 VALIDATED 1313739 SHCBP1L SHC SH2-domain binding protein 1-like 1 1 1 q25.3 155980150 156033661 - 181135623 181189176 - 182869000 182922553 - 6480464 12477932;11318611 81626 Q9BZQ2 AA448460;ABBA01027757;ABBA01027758;ABBA01027759;ABBA01027760;ABBA01027761;AF288397;AF288398;AF297023;AL450304;AL662837;AMYH01001549;AMYH01001550;AMYH01001551;BC026084;BC026086;BC050305;BC132764;BC144326;CH471067;HC006822;HC044501;NM_030933 AAG45336;AAG60616;AAG60617;AAH26084;AAH50305;AAI32765;ADR83382;CBH19217;CBH30580;EAW91139;EAW91140;EAW91141;EAW91142;EAW91143;NP_112195;Q9BZQ2 Hs.497034 1341440;1690314;1704186 D1S2623;RH92759;SHGC-79817 C1orf14;GE36;MGC26911;MGC48296 GE36;OTTHUMP00000033451;SHC SH2 domain-binding protein 1-like protein;chromosome 1 open reading frame 14 APPROVED protein-coding ENSG00000157060 16788 16634 VALIDATED 737159 SHC3 SHC (Src homology 2 domain containing) transforming protein 3 9 9 q22.1 90817880 90983502 - 91620686 91793682 - 6480464;6907045 11877420;8808684;11520933;18997821;17919311;17179996;15940252;15870690;15735675;15489334;12477932;12446789;12242309;12185581;12006576;11812778;9507002;9345034;8760305;8610109;16436505;9325171;12074588;21046104;19748727;20379614;9690470;14702039;7739560;22318606;22311806;21900206;22331829 53358 Q5T7I8;Q92529 ABBA01004615;ABBA01004616;ABBA01004617;AK127258;AL160054;AL353150;AL772202;AMYH01021494;BC026314;BC042431;BX538228;BX641139;CH471089;D84361;NM_016848 AAH26314;ABM87662;BAA12322;BAA12323;EAW62759;EAW62760;NP_058544;Q92529 Hs.292737 1665398;1704088;1720169;1720749;1767184;2111370;2118264;2127934;2129654;2149311;5093198 A009J17;D9S1143;D9S1758;D9S981E;G32578;G59348;RH11756;RH123995;SHGC-36196;SHGC-53160;SHGC-83360 DKFZp686H1544;FLJ45325;N-Shc;NSHC;RAI;SHCC OTTHUMP00000021614;SH2 domain protein C3;SHC-transforming protein 3;SHC-transforming protein C;neuronal Shc;protein Rai;src homology 2 domain-containing-transforming protein C3 protein-coding 18181 12005 605263 VALIDATED 1626597 SHFM1P1 split hand/foot malformation (ectrodactyly) type 1 pseudogene 1 5 5 5 q14.1 77092143 77092596 + 81224009 81224485 + 81188257 81188710 + 9060422 153842 ABBA01062062;AC026726;AMYH01015448;NG_001311;U61847 1675253 RH36546 DSS1P1;SHFM1P APPROVED pseudo 24454 INFERRED 1346269 SHFM2 split hand/foot malformation (ectrodactyly) type 2 7240710 8454282 6463 1702476;5112581 DXS294;HPRT 10846 1346921 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 1 1 q21 153201398 153213464 - 154934774 154946959 - 1304398;1625124;1580863;1642523;1643173;1643176;1643171;1643177;1643188;1643185;1642762;2299174;2317988;6480464;6484113;6907045 12837289;17347799;17596878;17360381;15998704;17986714;15044008;15375560;15837797;14685170;18175071;16829981 7537849;7559478;7541045;14676841;8491186;11520933;1623525;7739560;8493579;8810325;9544989;9690470;14665640;19383602;19229850;19055724;18840094;18660489;18611262;18504439;18480379;18420583;18385518;18279888;18093973;18067454;15562031;15485499;15489334;15316024;15308584;15226408;15094067;15036421;14990987;14983012;14764897;14749389;14702039;14573619;14530863;12789267;12589038;12586295;12577067;12522270;12477932;12446583;12400011;12237775;12069755;12048194;12024011;12009895;11980671;11950700;11948181;11903040;11896612;11884620;11884411;11877420;11855827;11773443;11724572;11714803;11707405;11707404;11707390;11694516;11607835;11505033;11302736;11094073;11075717;11044453;11027663;10996427;10971656;10921922;10896916;18032526;17998013;17938255;17908971;17906149;17380301;17167775;17158237;17081983;17081113;16934220;16825188;16756945;16519809;16487929;16481327;16257509;16186108;16170380;15992607;15951569;15888547;15753984;15705774;15688026;15592455;10816433;10790433;10783152;10764799;10749680;10748054;10704825;10662798;10652211;10650943;10623845;10602027;10570290;10559276;10482988;10477722;10457218;10382761;10086341;10037694;9927207;9872323;9824671;9741627;9710588;9710204;9694850;9685404;9660833;9659899;9632636;9614102;9446569;9388490;9378963;9346925;9344843;9325171;9233773;9223670;9209414;9192859;9174053;9126968;9121430;9096689;9083103;9058724;9049300;9047384;9045663;8940017;8939605;8918464;8776723;8761298;8662998;8662748;8656061;8643566;8628261;8617812;8557643;8524391;8400282;8294403;8226808;8195171;8183561;8125298;8035825;7961936;7933095;7929214;7806213;7791787;7731718;7675451;7650013;7635484;7556090;7544443;7544002;7541035;7535773;7524086;7514169;7499194;7473762;16436505;16113100;7559507;10803466;12441060;11964172;10477741;10080542;9045692;8662733;8647288;8112292;11287610;10675333;11533253;12446789;10708759;10092678;9856458;9660480;11349134;10194451;10900203;10822173;8643691;7970715;16729043;10085134;9461587;11888936;8626541;12135708;11782427;12871937;11854294;10319320;7537361;16189514;8874179;8723348;11432829;7657612;8943228;8610109;8577769;9047383;9202037;10681566;8887653;10964917;9148935;8155326;7515480;7542991;10891441;8084588;10340378;8890167;22561705;20534722;20637729;20624904;21206972;10224114;10629055;11071635;11342545;11825908;12052829;12419535;12485888;12808090;15588985;16034442;16099422;16219545;16843263;19172738;19696221;19826412;19828641;19889638;19889727;20061561;20111892;20354186;20379614;7516469;7518560;7520523;7798267;8541543;8621719;8631299;8633037;8702728;8940081;8995379;9122198;9234717;9488479;9716598;9733714;9837978;20667496;17207965;20739287;20226758;20676142;12114320;8631894;20842738;15812354;22020565;22974441;10635327;12925710;21264241;15488758;23033271;17001306;21612602;21817106;21778425;19531499;21900206;21439852;21616139;15657067;21983898;21139048;21906983;21933910;21828072;22039050;22101521;22100252;22096252;10025673;11370743;9129019;9130710;9434624;9756944;9886492;10595738;11408594;12898421;16135792;22661506;23267066;15470047;7537740;14982882;23277357;23584453;16273093;21706016;22641095;10049786;18271526;19380743;19884766;20697350;8950973;9541596;9617486;9804835 6464 H0Y539;Q5T181;Q5T182;Q5T186;Q5T187;Q5T188 AB208849;AB451255;AB451379;ABBA01016724;AF455141;AK096169;AK130014;AK225332;AK292143;AK296786;AK315842;AL451085;AMYH01001420;BC011813;BC014158;BC017283;BC033925;BX647136;BX647149;CH471121;NG_029028;NM_001130040;NM_001130041;NM_001202859;NM_003029;NM_183001;U73377;X68148;Y09847 AAB49972;AAH14158;AAH33925;AAM61859;AAM61860;ADQ32764;BAD92086;BAF84832;BAF98733;BAG59364;BAG70069;BAG70193;CAA48251;CAA70977;EAW53167;EAW53168;EAW53169;EAW53170;EAW53171;NP_001123512;NP_001123513;NP_001189788;NP_003020;NP_892113;P29353 Hs.433795 1651295;1680647;1847183;2108471;5015861;5015961;5016596;5020740;5022651;5024413;5037552;7185938 D10S16;D11S2921;D15S1477;D7S2830;D8S2279;GDB:631802;L17809;L17877;RH70874;RH98253;SHC1_7874 FLJ26504;SHC;SHCA OTTHUMP00000035407;OTTHUMP00000035408;OTTHUMP00000035409;OTTHUMP00000035471;OTTHUMP00000035472;SH2 domain protein C1;SHC (Src homology 2 domain-containing) transforming protein 1;SHC-transforming protein 1;SHC-transforming protein 3;SHC-transforming protein A;src homology 2 domain-containing-transforming protein C1 APPROVED protein-coding ENSG00000160691 10840 02780 600560 REVIEWED 1605584 SHE Src homology 2 domain containing E 1 1 1 q21.3 127523605 127546174 - 152718581 152741213 - 154451954 154474526 - 6480464 16710414;15489334;12693554;12477932;9315092 126669 H0YJQ6;H0YJR4;Q5VZ18 ABBA01049487;AI797276;AK074067;AK126006;AK131004;AL162591;AMYH01001417;BC117210;BC143765;CH471121;CR936667;CR936736;NM_001010846 AAI17211;AAI43766;BAB84893;EAW53197;EAW53198;NP_001010846;Q5VZ18 Hs.591481 2176244;5014019;5022450;5037552 D10S275;D5S2354;D8S2279;SHGC-33085 DKFZp451D1511;DKFZp686E14106;RP11-350G8.8 OTTHUMP00000034319;SH2 domain-containing adapter protein E protein-coding ENSG00000169291 27004 17293 610482 VALIDATED 1601984 SHD Src homology 2 domain containing transforming protein D 19 19 19 p13.3 4217984 4230101 + 4230659 4241720 + 4278598 4290720 + 6480464 15489334;14702039;12477932;9315092;10454579;17207965 56961 M0QYZ4;M0R1V9;Q96IW2 ABBA01056081;AC008616;AK055673;AK056268;AL390078;AMYH01009329;BC007206;CH471139;NM_020209 AAH07206;ADQ32660;BAB70981;CAB98202;EAW69241;NP_064594;Q96IW2 Hs.7423 2139317 WI-18365 SH2 domain-containing adapter protein D;src homology 2 domain-containing transforming protein D protein-coding ENSG00000105251 30633 15337 610481 VALIDATED 1602197 SHF Src homology 2 domain containing F 15 15 15 q21.1 22350695 22384650 - 43246704 43280665 - 45459412 45493373 - 6480464;6484113 15146197;14702039;12477932;11095946;8889548 90525 B3KTY1;F8W6K9;F8W6V4;H0YKA8;H0YLD8;H0YLM1;H0YLW6;H0YMM7;H0YMN4;H0YN16;H0YNF2;H0YNJ2;Q7M4L6 ABBA01039186;ABBA01039187;ABBA01039188;AC051619;AK094391;AK096267;AK123658;AK301625;AK303749;AMYH01006615;AMYH01006616;AMYH01006617;BC007586;BC101601;BC101603;BC143601;BC171730;BM669861;BX416415;CH471082;CN287519;NM_138356 AAH07586;AAI01602;AAI01604;AAI43602;AAI71730;BAC04345;BAG53243;BAG63110;BAG64721;EAW77298;EAW77299;EAW77300;EAW77301;NP_612365;Q7M4L6 Hs.310399 2159933;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;RH66736 MGC126650;MGC126652 OTTHUMP00000162042;SH2 domain-containing adapter protein F protein-coding ENSG00000138606 25116 14272 VALIDATED 1354140 SHCBP1 SHC SH2-domain binding protein 1 16 16 16 q11.2 31122631 31163484 - 45171968 45212785 - 46614466 46655311 - 6480464 17353931;16964243;16344560;16189514;15489334;15342556;15302935;15146197;15009096;14702039;12477932;10086341;8125298;7829101;15778465;19615732;22939629;19531213;15324660;20360068;21139048;21890473;21906983 79801 I3L3Z1;Q8NEM2 AA401234;ABBA01013773;ABBA01013774;AC092368;AK025662;AK055931;AK225315;AK292164;AK310430;AK315706;AMYH01007640;BC000960;BC030699;BI495128;BP245197;CH471092;CN259555;DB322103;NM_024745 AAH00960;AAH30699;ABW03337;ABW03345;ABW03683;BAB15208;BAB71049;BAF84853;BAG38067;EAW82680;EAW82681;NP_079021;Q8NEM2 Hs.123253 1676792;5017227 G38154;RH78742 FLJ22009;MGC26900;PAL OTTHUMP00000163362;SHC SH2 domain-binding protein 1 protein-coding ENSG00000171241 29547 11557 611027 VALIDATED 1353356 SHISA2 shisa family member 2 13 13 13 q12.13 7686949 7693412 - 25516735 25523198 - 26618735 26625198 - 6480464 17481602;15340161;12975309;12477932;22889411 387914 Q6UWI4 ABBA01007912;AL139004;AMYH01004981;AY358775;BC132898;BC137092;CH471075;NM_001007538 AAI32899;AAI37093;AAQ89135;EAX08378;NP_001007539;Q6UWI4 Hs.433791 5015881;5024605 GDB:335751;RH75489 C13orf13;PRO28631;TMEM46;WGAR9166;bA398O19.2;hShisa OTTHUMP00000018153;chromosome 13 open reading frame 13;protein shisa-2 homolog;shisa homolog 2;transmembrane protein 46 APPROVED protein-coding ENSG00000180730 20366 16589 VALIDATED 736829 SHH sonic hedgehog This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008] 7 7 q36 155288319 155297728 - 155595558 155604967 - 1580354;1580863;628387;2306294;2306299;5510013;5510025;5490965;6480464;6484113;6907045;7240710 16282375;12417650;18827446;18228117;20716670;20844013;19506583 20938369;8896572;19460624;19453261;19432668;19407245;19398181;19363151;19291772;19254376;19244133;19240184;19219074;19177589;19074837;19057928;19055941;19004543;18997815;18974107;18953259;18829478;18788453;18787206;18776995;18776754;18772349;18701018;18691547;18661269;18655123;18629868;18534984;18524848;22241722;21424326;22056874;22350753;22461522;22609357;15249145;15238528;15221788;15170664;15128061;14733907;14727139;14691301;14520413;14520411;12926841;12917489;12853948;12837695;12783258;12773389;12709790;12690205;12632368;12629553;12547712;12533514;12514186;12503095;12495844;12477932;12421920;12394760;12032320;11983699;11857543;11576188;11572986;11471164;11395778;11359461;11175816;11076863;10556296;10441331;10050855;18463159;18425375;18422746;18417549;18332216;18308861;18178630;18174246;18156157;18063705;17914115;17895245;17761145;17628016;17611415;17461467;17414057;17409199;17392427;17390043;17378681;17353904;17152067;17102592;17050669;17035233;17007023;16945339;16786128;16778137;16701100;16571640;16540513;16528374;16448649;16335952;16323008;16322088;16300466;16244652;16159933;16003737;15998911;15939571;15905200;15790807;15675968;15592520;15521068;15502857;15470048;15314219;15292211;15249678;9811851;9593755;9302262;9115210;8896571;8269518;8012392;8012391;7720571;7590746;10654605;20440271;20578145;20619754;21129534;20634891;21338440;20425842;20720195;20564213;20842831;19847792;19856079;19862523;19901516;19906872;19920144;19952108;19996099;20015350;20026066;20053908;20087349;20137639;20146882;20186790;20200556;20218977;20219995;20512148;20526338;12221011;17927850;18410549;18836447;19540662;19548265;19561609;19564910;19577569;19593328;19603532;19622100;19629560;19633682;19662327;19730683;19738389;19784071;19788370;19801637;19834598;19836325;21039988;20508033;20531442;20538960;20972907;20854074;20643644;20561215;21732818;21861243;14764698;17227833;21441223;21707705;21172305;20336604;8906787;21496866;21059263;23023967;23112049;22264144;22875023;22513293;22901214;22941587;23041623;17850284;21249152;21372638;21597001;21434830;21498615;21646478;21940988;22902404;22948179;22677152;22786669;23027964;11001584;11331587;8647801;22995914;23027863;22897141;21110116;21633164;21824197;21520153;21537345;21975935;22144466;22020162;22240607;21685941;22049079;21190179;23395608;17507406;22052462;21720384;22262830;22388744;21940735;22130025;22114142;21953141;22123293;22125638;21357747;22535603;22543708;22310223;22432023;21376786;21945071;21649559;20301702;21984201;22581926;23172661;22264356;22554932;22559324;22791840;22486854;23340176;22683912;23284750;23476075;23322567;22811598;22354771;22407314;22679015;22903933;23091001;23336661;23249701 6469 C9JC48;F8WB84;F8WEH4;Q15465 AACC02000068;AB020410;ABBA01032387;AC002484;AC078834;AMYH01018183;AY422195;AY927450;CH236954;CH471149;HM015597;L38518;NG_007504;NM_000193 AAA62179;AAB67604;AAI11926;AAQ87879;AAS01990;ADL14518;BAA34689;EAL23913;EAX04543;NP_000184;Q15465 Hs.164537 1337406;1744489;1769068;2106815;2153940;7184768 D7S550;D7S559;GDB:456307;RH69762;RH71367;UniSTS:465494 HHG1;HLP3;HPE3;MCOPCB5;SMMCI;TPT;TPTPS OTTHUMP00000199886;sonic hedgehog homolog;sonic hedgehog protein APPROVED protein-coding 10848 02838 142945;147250;269160;600725;611638 REVIEWED 1349756 SHFM1 split hand/foot malformation (ectrodactyly) type 1 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008] 7 7 q21.3 96156015 96177139 - 96318079 96339203 - 6480464;6907045;7240710 10373512;16239144;15117943;18950845;18775730;18270339;17563742;17406092;17066443;16189514;15489334;12853948;12690205;12477932;12228710;9927667;9847074;8733122;1895319;1877619;20610542;20808887;19690177;20220765;20817001;20694011;21906983;22343721;19013454;21900206;15610744;16205630;23024267;23371468 7979 F2Z2L7;F2Z2N6;F2Z309;P60896;Q6IBB7 AACC02000013;ABBA01045763;AC073230;AK291070;AK309241;AMYH01017701;BC032782;CH236949;CH471091;CR456887;NG_009273;NM_006304;U41515 AAA91179;AAH32782;AAQ93368;BAF83759;CAG33168;EAL24125;EAW76746;EAW76747;NP_006295;P60896 Hs.489201 1337313;1675253;1765671;5024516;7187002;7187948 D13S1568;D7S479;RH36546;SHGC-149111 DSS1;ECD;SEM1;SHFD1;SHSF1;Shfdg1 26S proteasome complex subunit DSS1;OTTHUMP00000198236;deleted in split hand/split foot protein 1;deleted in split-hand/split-foot 1;split hand/foot deleted protein 1;split hand/foot malformation type 1 protein APPROVED protein-coding 10845 03182 REVIEWED 1345156 SHISA8 shisa family member 8 22 22 q13.2 40635715 40640617 - 42305558 42310671 - 6480464 440829 B8ZZ34 ABBA01055655;AI763350;AMYH01012804;AMYH01012805;AMYH01012806;CR748983;NM_001207020;XM_003960820;Z99716 B8ZZ34;NP_001193949;XP_003960869 Hs.526704 2184463 IB284 C22orf17;Orf26 CTA-250D10.17;putative protein shisa-8;shisa homolog 8;shisa homolog 8 (Xenopus laevis);transmembrane protein 46-like APPROVED protein-coding 18351 INFERRED 1323817 SHISA4 shisa family member 4 1 1 1 q32.1 174981622 174985540 + 200124655 200128050 + 201857797 201861715 + 737633;6480464 12477932 17481602;16710414;15489334;12975309;16344560 149345 Q96DD7 ABBA01027523;AK294106;AK311191;AK316312;AL513217;AMYH01001644;AY358589;BC009558;BC061908;BC066977;BC104444;BC104445;BC111855;BM923401;CH471067;DA130234;NM_198149;NR_030775 AAH09558;AAH61908;AAI04445;AAI04446;AAI11856;AAQ88952;ACE86765;ACE87451;BAG57441;BAH14683;EAW91378;EAW91379;NP_937792;Q96DD7 Hs.632471 1671564;1770508 A007G17;SHGC-76135 C1orf40;FLJ18233;MGC102893;MGC129812;MGC129813;TMEM58;hShisa4 OTTHUMP00000033952;protein shisa-4;shisa homolog 4;transmembrane protein 58 APPROVED protein-coding ENSG00000198892 27139 12729 VALIDATED 3160513 SHISA9 shisa family member 9 16 16 16 p13.12 13170353 13509146 + 13083744 13236767 + 12995477 13334273 + 20195266;14702039;18677311;20185686;20379614;23362303 729993 B4DS77;H0YM01;H0YNH4 ABBA01006859;ABBA01006860;ABBA01006861;ABBA01006862;ABBA01006863;ABBA01006864;AC009134;AC092324;AC092380;AJ002784;AK000877;AK026131;AK094972;AK299610;AK309038;AK309193;AMYH01007170;AMYH01007171;AMYH01007172;AMYH01007173;CR627300;CR749545;DC375222;H20826;NM_001145204;NM_001145205 B4DS77;BAG61539;NP_001138676;NP_001138677 Hs.130661 1337108;1649224;1661496;1662474;1718901;1738593;1738727;1738769;1738841;1777863;2127714;2148701;2159018;2166973;2182613;5015460;5015607;5016403;5022637;5037552 A115XE1;D11S2766;D11S3014;D16S2746;D16S2828;D16S2852;D16S2893;D16S292;D16S3062;D16S3288;D16S741;D8S2279;G02304;L17953;RH123156;RH78567;SHGC-17618;SHGC-2863;SHGC-60505;SHGC-60526 CKAMP44;DKFZp686D24206;DKFZp686E24206;FLJ10015;FLJ37653;FLJ58277;FLJ99079;FLJ99234 OTTHUMP00000205384;OTTHUMP00000205385;cystine-knot AMPAR modulating protein;protein shisa-9;shisa homolog 9 APPROVED protein-coding ENSG00000237515 37231 613346 VALIDATED 1350866 SHMT1P1 serine hydroxymethyltransferase 1 (soluble) pseudogene 1 1 1 1 p34 42596943 42599466 - 44315093 44317616 - 44315093 44317616 - 9156323;8786078 6471 ABBA01050941;AL592548;AMYH01000562;NG_002289;NG_028196;X85980 SHMT1P APPROVED pseudo 10851 INFERRED 2292184 SHISA3 shisa family member 3 4 4 4 p13 42847702 42852350 + 42094613 42099261 + 42399856 42404504 + 6480464 17481602;12477932 152573 A0PJX4 ABBA01014289;AC024022;AC084010;AMYH01014134;BC012029;BC127690;BC127691;CH471069;NM_001080505 A0PJX4;AAH12029;AAI27691;AAI27692;EAW93002;NP_001073974 Hs.370904 2170280 RH65380 hShisa3 OTTHUMP00000219634;protein shisa-3 homolog;shisa homolog 3 APPROVED protein-coding ENSG00000178343 25159 PROVISIONAL 1602039 SHISA6 shisa family member 6 17 17 17 p12 11175533 11498055 + 11085465 11402921 + 11144740 11467380 + 6480464 12477932;14702039;16344560;20379614;23251661;23382691;23396134 388336 Q6ZSJ9 ABBA01054988;ABBA01054989;ABBA01054990;ABBA01054991;ABBA01054992;ABBA01054993;AC005725;AC007510;AC055825;AK094349;AK095052;AK127379;AK128003;AMYH01008109;AMYH01008110;AMYH01008111;BC105704;BC105705;BC105706;BC105707;DA362563;DQ070854;NM_001173461;NM_001173462;NM_207386 AAI48580;AAI56587;AAY68487;BAC86949;BAG54617;NP_001166932;NP_001166933;NP_997269;Q6ZSJ9 Hs.592124 1334961;1336395;1340692;1688692;1698782;1708530;1723787;1754655;1766849;1785028;2123732;2179891;2186661;5493567 D17S1546;D17S1875;D17S731;D17S748;RH102954;RH122223;RH48639;RH92936;SHGC-133008;SHGC-152248;SHGC-153164;SHGC-5898;SHGC-85041;UniSTS:487272 FLJ37030;FLJ37733;FLJ45455 OTTHUMP00000205111;OTTHUMP00000205112;OTTHUMP00000205113;protein shisa-6 homolog;shisa homolog 6 APPROVED protein-coding ENSG00000188803 34491 13507 VALIDATED 1349053 SHOX short stature homeobox This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] X;Y X;Y p22.33;Yp11.3 505079 540146 + 535079 570146 + 1580863;6480464;7240710 14981722;14513875;9259282;9590292;19188742;19016538;18797583;18322641;18059093;17994562;17935511;17911654;17881654;17201812;17200153;17182655;16941489;16826534;16807223;16597678;16175500;15931687;15931595;15529627;15292358;15214013;15173321;15145945;15118270;22518848;22572840;12960152;12784295;12116254;12089524;11891678;11889216;11889214;11874178;11751690;11716161;11403039;11030412;9590293;9254856;9140395;8558568;7815426;6954848;2602357;21262861;21273290;20412871;20683993;21150837;20847698;19997128;16325853;19578035;19724992;20375215;21325865;21068148;21147883;22791839;21448463;21454626;22020182;21806840;21912078;21925981;21712857;22071895;22946287;23028966;23426818;21057177;21057178;21057179;23208451;22903874 6473 H0YLI9;H0YMI2;H0YMR3;O15266 ABBA01055801;ABBA01055802;ABBA01055803;AMYH01021956;AY628411;BX004827;CH471225;NG_009385;NM_000451;NM_006883;U82668;U89331;Y11535;Y11536 AAC18820;AAI41504;AAI48784;AAT46026;CAA72298;CAA72299;EAW66815;EAW66816;EAW66817;NP_000442;NP_006874;O15266 Hs.105932 1702746;2117941;2156680;5015404;5015961;5022578;5022651;5037552;7185463;7185568 D0S17712;D11S2921;D15S1477;D1S1423;D8S2279;DXYS131;DXYS28;L17705 GCFX;PHOG;SHOXY;SS OTTHUMP00000022821;OTTHUMP00000022822;OTTHUMP00000245276;growth control factor, X-linked;pseudoautosomal homeobox-containing osteogenic protein;short stature homeobox protein;short stature homeobox-containing protein APPROVED protein-coding ENSG00000185960 10853 02430 127300;249700;300582;312865;400020 REVIEWED 1602716 SHISA5 shisa family member 5 This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 3 3 3 p21.31 48460056 48497388 - 48484201 48516665 - 48509197 48541661 - 6480464;6907045 12761501;19367581;17889823;14702039;12477932;12135983;11042152;15064722;16344560;8889548;18624398 51246 C9IZ46;F8W9N8;F8WCE2;F8WDS1;F8WFD9;H7C2R0;Q8N114 AB097007;ABBA01024645;ABBA01024646;ABBA01024647;AC104448;AC134772;AF151051;AF520698;AI718508;AK056328;AK075441;AK124652;AK298799;AK298842;AK301191;AL117413;AL832568;AMYH01013149;AMYH01013150;AMYH01013151;BC001463;BC020279;BI552637;BM929955;BX336842;BX344125;BX379507;CH471055;CS051259;CS488909;DA009534;DA020280;DA025113;DA045437;DA046900;DA657994;NG_033100;NM_001272065;NM_001272066;NM_001272067;NM_001272068;NM_001272082;NM_001272083;NM_016479 AAF36137;AAH01463;AAM74232;BAB71152;BAC11623;BAC77360;BAG54061;BAG60934;BAG60969;BAH13428;CAH10587;CAH10718;CAI72125;CAM55983;EAW64885;EAW64886;EAW64887;EAW64888;EAW64889;NP_001258994;NP_001258995;NP_001258996;NP_001258997;NP_001259011;NP_001259012;NP_057563;Q8N114 Hs.414579;Hs.664265 1764675;2165349 SHGC-148265;WI-11814 SCOTIN;hShisa5 OTTHUMP00000164808;OTTHUMP00000210138;OTTHUMP00000210139;OTTHUMP00000210140;protein shisa-5;putative NF-kappa-B-activating protein 120;shisa homolog 5 APPROVED protein-coding ENSG00000164054 30376 06290 607290 REVIEWED 3160565 SHISA7 shisa family member 7 19 19 19 q13.42 52980996 53005709 - 60636335 60654784 - 55940105 55954230 - 6480464 11181995;12477932;14702039;15057824 729956 A6NL88;H7C1N4 ABBA01068094;AC135592;AK091660;AK094959;AK127223;AL831832;AMYH01009999;BC093900;BC112197;NM_001145176 A6NL88;AAH93900;AAI12198;BAC03715;BAC04461;BAC86890;NP_001138648 Hs.6664 1679431;1856291;2143923;5493133 NIB1495;RH11812;RH98724;UniSTS:484430 DKFZp547H0214;FLJ34341;FLJ37640;FLJ45290;MGC120935;MGC138402 OTTHUMP00000205373;UPF0626 protein A;protein shisa-6-like;protein shisa-7;shisa homolog 7 APPROVED protein-coding ENSG00000187902 35409 VALIDATED 1352927 SHKBP1 SH3KBP1 binding protein 1 19 19 19 q13.2 37881810 37896356 + 45774630 45789141 + 41082757 41097305 + 729812;1580863;6480464 11152963 16733801;16344560;15324660;12477932;9110174;8619474;21145461;16169070;19615732;21139048;21830225;21890473;21906983;19531213 92799 M0QX42;M0QXA4;M0QYB1;M0QYJ9;M0QZE8;M0QZF2;M0QZF4;M0R0E3;M0R0K4;M0R0S1;M0R0S2;M0R1G0;M0R204;M0R2P6;M0R2U6;Q8TBC3 ABBA01040775;ABBA01040776;ABBA01040777;AC010412;AC020929;AF258553;AK075057;AK123695;AK297006;AK300808;AK300819;AK312748;AMYH01009806;AY007117;BC007653;BC022855;CA416700;CH471126;CQ834620;DB038927;NM_138392 AAG23756;AAH07653;AAH22855;BAC11374;BAG35616;BAG53940;BAG59542;BAG62464;BAG62474;CAH05525;EAW56979;EAW56980;EAW56981;NP_612401;Q8TBC3 Hs.26506 1689923;1798220 RH94117;SPTBN4_2491 PP203;Sb1 SH3KBP1-binding protein 1 protein-coding ENSG00000160410 19214 15338 VALIDATED 1345880 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010] 3 3 3 p13 72732591 72831743 - 72881118 72980288 - 72798428 72897598 - 737633;6480464 12477932 14702039;19615732;19383767;18029348;21931644;22085966;21139048;21890473;21906983;19322201 55164 B4DL05;C9J6N3;F8WBC6;F8WDZ9;Q6PI26 ABBA01030954;ABBA01030955;AC114876;AC134050;AK001401;AK092962;AK296789;AMYH01013279;BC017204;BC017274;BC025270;BC032671;BC039830;BC047879;BX641074;CH471055;NM_018130 AAH17204;AAH17274;AAH25270;AAH32671;AAH39830;AAH47879;BAA91669;BAG59367;CAE46037;EAW65521;EAW65522;EAW65523;NP_060600;Q6PI26 Hs.606584 1749109;1780222;2121774;5037552 D3S3369;D8S2279;SHGC-110789;SHGC-154639 DKFZp686H07226;FLJ10539;Shq1p OTTHUMP00000213535;OTTHUMP00000213537;SHQ1 homolog;protein SHQ1 homolog APPROVED protein-coding ENSG00000144736 25543 07682 613663 VALIDATED 7206880 SHQ1P1 SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1 10 q11.23 52389287 52391008 - 644451 ABBA01052480;AL596137;AMYH01002732;NG_022146 pseudo 45013 INFERRED 1317750 SHOC2 soc-2 suppressor of clear homolog (C. elegans) This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010] 10 10 q25 112713903 112763413 + 112679301 112773425 + 1580863;6480464;7240710 22606262;9674433;9618511;16301319;15489334;14702039;12477932;10783161;10048485;20071468;16630891;19684605;20051520;20110435;20882035;23076151;21548061;21182205;21832049;17314511;23000965;20360068;21139048 8036 Q9UQ13 AB020669;ABBA01063019;ABBA01063020;AF054828;AF068920;AI202318;AK090820;AK292833;AK293271;AL158163;AMYH01003065;BC044752;BC050445;BX649055;CH471066;DB451165;NG_028922;NM_001269039;NM_007373 AAC25698;AAC39856;AAH50445;BAA74885;BAF85522;BAG52235;BAG56800;EAW49548;EAW49549;EAW49550;NP_001255968;NP_031399;Q9UQ13 Hs.104315 1700064;2109839;2162242;2162244 A005M36;G20338;RH103645;SHOC2_8774 FLJ60412;KIAA0862;SIAA0862;SOC-2;SOC2;SUR-8;SUR8 OTTHUMP00000020481;OTTHUMP00000020482;leucine-rich repeat protein SHOC-2 APPROVED protein-coding ENSG00000108061 15454 04144 602775;607721 REVIEWED 1323770 SHMT1 serine hydroxymethyltransferase 1 (soluble) This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 p11.2 18171912 18207581 - 18231187 18266856 - 1359815;1580863;2300328;2300383;2300321;2300329;6480464;6907045;7242557;7242561 15671219;17311260;3110140;17896178;17031801;22108709;22332074 15797993;15598699;15531579;15489334;15198953;15122597;15060097;15059614;14656021;12615003;12604405;12477932;12161434;11997338;11386852;10995219;10549165;9573390;9056951;8533763;8527925;8125298;6794659;16169070;16006999;627563;9753690;8505317;11278996;11516159;19336370;19223009;19161160;19159907;19086053;19064578;19048631;19020309;18996879;18830263;18635682;18427977;18381459;18378616;17904392;17891500;17595805;17446168;17420066;17311259;17206530;17119116;17113224;17074544;17035141;16536979;16447238;16365025;16049973;16046727;17482557;20544798;20615890;20634891;20670920;11063567;19513116;19619240;19692168;19706844;19707223;19734143;19751277;19774638;19776626;19777601;19858780;20031554;20101025;20386493;20398908;20453000;20458436;20511665;18029348;20140262;20737570;20842733;20852008;20877624;20920350;20977478;21055808;21090237;21178087;21963094;21988832;23322534;23421317;8786078;22863883;22939629;20639865;21139048;21890473;21906983;21987572;22194612;21987236;21687976;22220685;22044939;23106098;22803112;22505724 6470 B4DPM9;J3KRK5;J3KRZ5;P34896 ABBA01009732;ABBA01009733;AC127537;AF017064;AF017065;AK223552;AK298415;AK302834;AL353997;AMYH01008168;AU185281;BC007979;BC022874;BC038598;BM792235;CH471196;DB451683;L11931;L23928;NG_017111;NM_001281786;NM_004169;NM_148918;Y14485;Y14486;Y14488;Y14489;Y14490 AAA36018;AAA36019;AAA36020;AAA63257;AAC39726;AAH07979;AAH22874;AAH38598;ABM84168;ABW03580;BAD97272;BAG60641;BAG64027;CAB54838;CAB54839;CAB54841;CAB54842;CAB54843;EAW55637;EAW55638;EAW55639;EAW55640;EAW55641;EAW55642;EAW55643;NP_001268715;NP_004160;NP_683718;P34896 Hs.513987;Hs.592944;Hs.636044 1687117;1722313;1791968;1793018;2109837;2145333;2166908;2169937;5014051;5037552 D17S1715;D8S2278;D8S2279;G33160;G60222;PMC133987P5;PMC186597P1;RH15951;RH75041;SHMT1_8625 CSHMT;MGC15229;MGC24556;SHMT 14 kDa protein;OTTHUMP00000065139;OTTHUMP00000065140;OTTHUMP00000065141;cytoplasmic serine hydroxymethyltransferase;glycine hydroxymethyltransferase;serine hydroxymethyltransferase, cytosolic;serine methylase APPROVED protein-coding ENSG00000176974 10850 01643 182144 REVIEWED 1351345 SHROOM2P1 shroom family member 2 pseudogene 1 Y Y Y q11.21 1646906 1649068 + 13163003 13165165 + 14652993 14655155 + 12815422 10031 ABBA01065638;AC004617;NG_002803 2188339;2188341;5095114;5095116;5095118;5095120 APXLP-4;APXLP-4-2;APXLP-4-3;APXLP-4-4;G66206;G66207 APXLP APPROVED pseudo 631 INFERRED 1321190 SHPRH SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008] 6 6 6 q24.3 146946301 147025589 - 146247636 146326926 - 146205943 146285233 - 6480464 17130289;17108083;16169070;15324660;14702039;12837266;12477932;7566098;22242598;18719106;19615732;20379614;21396873;21139048;21890473 257218 B3KX98;H0YBI0;H7C2W2;K4DI94;Q5JT88;Q8NBR7 AA315737;AB095943;ABBA01025726;AK075318;AK094944;AK126959;AK130768;AL356599;AL451145;AL833521;AMYH01016727;AY161136;AY163808;BC113089;BC117685;BC117686;BX648322;CH471051;CR749290;NM_001042683;NM_173082 AAI13090;AAI17686;AAI17687;AAO06907;AAO26201;BAC04459;BAC11544;BAC23119;BAG54410;CAH18145;EAW47836;EAW47837;EAW47838;EAW47839;NP_001036148;NP_775105;Q149N8 Hs.723297 1683491;1695326;1787582;2135390;2148756 RH93573;SHGC-155911;SHGC-64749;STS-N20832;WI-17307 FLJ27258;FLJ37625;FLJ45012;FLJ90837;KIAA2023;MGC134886;bA545I5.2 2610103K11Rik;E3 ubiquitin-protein ligase SHPRH;OTTHUMP00000017363;OTTHUMP00000225216;OTTHUMP00000225224;SNF2, histone-linker, PHD and RING finger domain-containing helicase APPROVED protein-coding ENSG00000146414 19336 10476 608048 VALIDATED 1317524 SHPK sedoheptulokinase The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008] 17 17 17 p13 3525274 3553357 - 3458305 3486365 - 3511556 3539616 - 1580863;6480464 10673275;18186520;14702039;12477932;19913121;20628086;19679847;21139048;21906983;19413330;22682222;22505724 23729 Q9UHJ6 ABBA01054741;ABBA01054742;AC027796;AF163573;AF168787;AK055609;AK057020;AK057040;AK298360;AK312428;AL832420;AMYH01008031;BC020543;BC111366;CH471108;NM_013276 AAF24936;AAF43103;AAH20543;ABM82572;ABM85761;BAG35337;BAG51543;BAG60602;CAH10646;EAW90501;NP_037408;Q9UHJ6 Hs.579217 5015619;5015861;5015881;5092456;5092460;5092484;7185938 D10S16;D11S3114;G54293;G54296;G54325;GDB:335751 CARKL;FLJ32478;SHK OTTHUMP00000115862;carbohydrate kinase-like protein;sedoheptulokinase APPROVED protein-coding ENSG00000197417 1492 05451 605060 REVIEWED 1346980 SHS Sutherland-Haan X-linked mental retardation syndrome 7240710 3177467;1605216 347679 10855 300448;301040;309500;309580 736918 SHOX2 short stature homeobox 2 This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] 3 3 3 q25.32 156237551 156247714 - 159296494 159306630 - 157813800 157823952 - 1580863;6480464 9482898;19453261;16344560;15489334;14759258;14702039;12477932;9858825;9466998;19336002;20211142;20858598;21426551;21047392;21694641;22108652;19322201;22555092 6474 A6NLG4;H0YJ32;O60902 AA450208;ABBA01058823;AC112502;AF022654;AJ002367;AJ002368;AK095338;AMYH01013606;BC008829;BX331739;CH471052;DA447204;NM_001163678;NM_003030;NM_006884 AAC39662;AAH08829;ADR82773;BAG53030;CAA05341;CAA05342;EAW78695;EAW78696;EAW78697;EAW78698;NP_001157150;NP_003021;NP_006875;O60902 Hs.55967 1683367;5127339 RH92222;SGC44267 OG12;OG12X;SHOT OTTHUMP00000213397;OTTHUMP00000213398;OTTHUMP00000213399;OTTHUMP00000245277;SHOX homologous gene on chromosome 3;homeobox protein Og12X;paired-related homeobox protein SHOT;short stature homeobox protein 2 APPROVED protein-coding ENSG00000168779 10854 602504 REVIEWED 1318437 SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 12 12 q12-q14 55909819 55914981 + 57623356 57628718 + 1359815;1580863;2300383;6480464;6907045;7242560;7242557;7242561 15671219;3110140;20645850;22108709;22332074 8999870;21145461;15489334;14702039;12477932;11386852;11063567;10828359;10549165;9639330;9573390;9497969;8505317;17482557;17220478;17353931;11516159;18063578;19086053;19048631;18988749;18636124;15635413;8435385;8125298;19913121;20628086;18029348;20877624;20562859;15146197;16344560;19513116;19615732;22863883;21832049;20186120;15604093;21081666;21139048;21890473;21906983;21987572;22220685;21628590;21853274;22505724 6472 B4DJQ3;B4DLV4;G3V241;G3V2D2;G3V2E4;G3V2W0;G3V2Y1;G3V2Y4;G3V3C6;G3V3Y8;G3V4T0;G3V4W5;G3V4X0;G3V540;G3V5L0;H0YIZ0;P34897;Q5BJF5;Q5HYG8 ABBA01026707;AC137834;AK055053;AK223555;AK295941;AK296183;AK297173;AK298231;AK301339;AK301443;AK303827;AK315916;AMYH01004513;BC008066;BC008711;BC011911;BC013677;BC025355;BC032584;BC044211;BC091501;BT006866;BX647711;BX648847;CH471054;CN395976;DA052422;DC339924;DC386590;GN344115;L11932;NG_029163;NM_001166356;NM_001166357;NM_001166358;NM_001166359;NM_005412;NR_029415;NR_029416;NR_029417;NR_048562;U23143;Y12331 AAA63258;AAA64572;AAH11911;AAH13677;AAH32584;AAH44211;AAH91501;AAP35512;ABM82235;ABM85356;BAD97275;BAG58725;BAG58915;BAG59666;BAG60500;BAG62887;BAG62969;BAG64774;BAH14287;CAA72999;CAI46021;CAY55993;EAW96993;EAW96994;EAW96995;EAW96996;EAW96997;EAW96998;EAW96999;EAW97000;EAW97001;NP_001159828;NP_001159829;NP_001159830;NP_001159831;NP_005403;P34897 Hs.741179 1682139;1775592;2139180;2183429;2184840;5124166 L11932;RH15808;RH47705;RH71214;RH98752;STS-W84778 GLYA;SHMT GLY A+;OTTHUMP00000245559;OTTHUMP00000245562;OTTHUMP00000245565;OTTHUMP00000245566;OTTHUMP00000245570;glycine auxotroph A, human complement for hamster;glycine hydroxymethyltransferase;serine aldolase;serine hydroxymethylase;serine hydroxymethyltransferase, mitochondrial;serine methylase;threonine aldolase APPROVED protein-coding ENSG00000182199 10852 00717 138450 REVIEWED 1605292 SHROOM1 shroom family member 1 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] 5 5 5 q31.1 128287848 128296605 - 132185911 132189901 - 132157833 132166590 - 6480464 16684770;16615870;12477932;11853319 134549 A6NN40;C9JXU1;Q2M3G4 AB075840;ABBA01068798;ABBA01068799;AC004500;AC004775;AF314142;AMYH01015616;AMYH01015617;BC104914;BC104916;BC143494;CH471062;EB387851;NM_001172700;NM_133456 AAI04915;AAI04917;AAI43495;AAM15526;BAB85546;EAW62310;EAW62311;EAW62312;NP_001166171;NP_597713;Q2M3G4 Hs.519574 1687990;1803754;1804550;1804872;1804874;1806508;1809382;1809762;1812428;1814256;1832556;1837292;1841744;2001830;2001832;2001834;2001836;2001838;2001840;2001842;2001844;2001846;2001848;2001850;2001852;2001854;2001856;2001858;2001860;2001862;2001864;2001866;2001868;2001870;2001872;2001874;2001876;2001878;2001880;2001882;2001884;2001886;2001888;2001890;2001892;2001894;2001896;2001898;2001900;2001902;2001904;2001906;2001908;2001910;2001912;2001914;2001916;2001918;2001920;2096516;2096518;2096520;2096522;2096524;5014051;5015619;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;ECD02784;ECD03204;ECD03371;ECD03372;ECD04211;ECD05683;ECD05873;ECD07221;ECD08157;ECD17418;ECD19813;ECD22071;REN71827;REN71828;REN71829;REN71830;REN71831;REN71832;REN71833;REN71834;REN71835;REN71836;REN71837;REN71838;REN71839;REN71840;REN71841;REN71842;REN71843;REN71844;REN71845;REN71846;REN71847;REN71848;REN71849;REN71850;REN71851;REN71852;REN71853;REN71854;REN71855;REN71856;REN71857;REN71858;REN71859;REN71860;REN71861;REN71862;REN71863;REN71864;REN71865;REN71866;REN71867;REN71868;REN71869;REN71870;REN71871;REN71872;RH92995;stSG601549;stSG601550;stSG601551;stSG601553;stSG601554 APXL2;KIAA1960 OTTHUMP00000066201;OTTHUMP00000066202;OTTHUMP00000066204;apical protein 2;protein Shroom1 APPROVED protein-coding ENSG00000164403 24084 10655 611179 VALIDATED 2302187 SIAH1P1 siah E3 ubiquitin protein ligase 1 pseudogene 1 X X X p21.1 39771630 39774177 + 35553810 35555013 + 35644130 35646678 + 19642869 340571 ABBA01073492;ABBA01073493;AL359734;AMYH01022206;NG_011405 SIAH1L APPROVED pseudo 30966 INFERRED 1343092 SHROOM2 shroom family member 2 The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. [provided by RefSeq, Jul 2008] X X X p22.3 13926415 14088764 + 9714496 9877481 + 9754496 9917481 + 1580863;6480464 22634755;16684770;7795590;17081983;16615870;15772651;15324660;14702039;21248203;12477932;17474147 357 C9IZC6;F5H3B6;Q13796 ABBA01070761;ABBA01070762;ABBA01070763;ABBA01070764;ABBA01070765;ABBA01070766;ABBA01070767;ABBA01070768;ABBA01070769;ABBA01070770;ABBA01070771;AC002365;AC090481;AC135254;AK096596;AK299907;AMYH01022070;AMYH01022071;AMYH01022072;BC140866;CH471074;CR749271;NG_012493;NM_001649;X83543 AAC32592;AAI40867;BAG53335;BAH13168;CAA58534;CAH18127;EAW98774;NP_001640;Q13796 Hs.567236 1654028;1668780;1693540;1694004;1694014;1711832;1745275;1745277;1745281;1745283;1745327;1745329;1745331;1745333;1745335;1745339;1745341;1745343;1745345;1745347;1745349;1745351;1745353;1745355;1745357;1745365;1745367;1745369;1745371;2106427;5017883 A007I24;AF003658;AF003664;APXL__4346;G49443;GDB:597633;GDB:597645;GDB:597735;GDB:599051;GDB:599415;GDB:599441;GDB:599465;GDB:599475;GDB:599486;GDB:599499;GDB:599508;GDB:599514;GDB:599521;GDB:599525;GDB:599536;GDB:599539;GDB:599542;GDB:599551;GDB:599554;GDB:603613;GDB:603624;GDB:603627;GDB:603631;RH18181;SHGC-58453;SHROOM2 APXL;DKFZp781J074;FLJ39277;HSAPXL APX homolog of Xenopus;OTTHUMP00000022887;apical protein, Xenopus laevis-like;apical protein-like (xenopus laevis);apical-like protein;protein Shroom2 APPROVED protein-coding ENSG00000146950 630 02113 300103 REVIEWED 6481354 SIAH2-AS1 SIAH2 antisense RNA 1 100874005 AC011317 APPROVED miscrna 40526 1602873 SHROOM3 shroom family member 3 This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011] 4 4 q21.1 77575277 77923430 + 77356253 77704406 + 6480464 22797727;19430482;16615870;14760703;14702039;12477932;10819331;10767323;10589677;9847074;15778465;20636464;19740415;20208534;20222955;20379614;20383145;20383146;20700443;22939629;21987572;21936905;23455922;23535967 57619 B3KY47;Q8TF72 AB040914;AB055660;ABBA01063361;ABBA01063362;ABBA01063363;ABBA01063364;ABBA01063365;AC096743;AC107051;AC107072;AC112249;AC121158;AF109367;AK027744;AK055294;AK124415;AK127929;AK128677;AK304103;AMYH01014314;AMYH01014315;AMYH01014316;AW025141;BC007291;CH471057;NG_028077;NM_020859 AAH07291;AAI56133;AAQ13515;BAA96005;BAB55336;BAB84689;BAC85848;BAC87195;BAG54709;BAG65006;EAX05794;EAX05795;NP_065910;Q8TF72 Hs.702168 1335001;1695070;1712631;1714813;1735506;1756431;1771389;1785126;1785138;2112096;2121187;2147516;2147586;2157999;2170161;2219736 D4S1166;D4S2393;D4S2805;D4S3320;D4S789;D5S1629E;G34188;RH120073;RH120166;SGC34670;SHGC-143416;SHGC-155380;SHGC-155720;SHGC-24718;SHGC-51583;ShrmL__5406 APXL3;KIAA1481;MSTP013;SHRM;ShrmL F-actin-binding protein;OTTHUMP00000160595;hShrmL;protein Shroom3;shroom family member 3 protein;shroom-related protein APPROVED protein-coding ENSG00000138771 30422 07053 604570 REVIEWED 1351927 SIATL1 sialyltransferase-like 1 6486 10873 1352166 SI sucrase-isomaltase (alpha-glucosidase) This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010] 3 3 q25.2-q26.2 166179380 166278976 - 164696686 164796283 - 1625543;1625544;1625545;1625550;1625548;1580863;6480464;6907045;7240710 12940455;9878708;16964428;9724271;10864000 16802690;1717481;19121318;17194452;16543230;16329100;15944403;15522234;14724820;12477932;11340066;11003604;10903344;9092938;8609217;8521865;7566098;3925457;3896809;3178143;2962903;1677636;1560017;1353958;23103650;20841351;11329013;16344560;21165628 6476 F8WF21;P14410 AA376756;ABBA01058755;ABBA01058756;AC092695;AC140119;AC144561;AMYH01013628;BC115033;BC115034;BC116452;BC116453;BC132834;BC132860;BG187733;CH471052;DA919374;M22616;M84646;NG_017043;NM_001041;X63597 AAA60551;AAI15035;AAI16453;AAI32835;AAI32861;CAA45140;EAW78601;NP_001032;P14410 Hs.429596 1713021;2108477;2115941;5492056 RH120601;SHGC-77505;SI-223F;SI_8627 MGC131621;MGC131622 OTTHUMP00000212594;oligosaccharide alpha-1,6-glucosidase;sucrase-isomaltase, intestinal APPROVED protein-coding ENSG00000090402 10856 01962 222900;609845 REVIEWED 1606521 SHROOM4 shroom family member 4 This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] X X X p11.22 54378231 54600597 - 50351387 50573784 - 50334642 50557044 - 6480464;7240710 16249884;16684770;18029348;16615870;14702039;12673656;12477932;10737800;10574462 57477 Q9ULL8 AB033028;ABBA01060069;ABBA01060070;ABBA01060071;ABBA01060072;ABBA01060073;ABBA01060074;ABBA01060075;ABBA01060076;ABBA01060077;ABBA01060078;ABBA01060079;ABBA01060080;ABBA01060081;ABBA01060082;ABBA01060083;ABBA01060084;ABBA01060085;ABBA01060086;ABBA01060087;ABBA01060088;ABBA01060089;ABBA01060090;ABBA01060091;ABBA01060092;ABBA01060093;ABBA01060094;ABBA01060095;AC233286;AK092659;AK127486;AL121865;AL359272;AL445491;AMYH01022331;AMYH01022332;AY044234;BC151240;BI018520;CH471180;NG_011882;NM_020717;NR_027121 AAI51241;AAK95579;BAA86516;EAW89917;EAW89918;NP_065768;Q9ULL8 Hs.420541 1334583;1644128;1649062;1667077;1703116;2127423;2128953;2139194;2164602;2171191;2182460 AFM308zg9;DXS1184;DXS1186;DXS6824;DXS7045;DXS8023;DXS8372;L77286;L77293;L77314;sWXD1434 KIAA1202;SHAP OTTHUMP00000195166;OTTHUMP00000217073;protein Shroom4;second homolog of apical protein APPROVED protein-coding ENSG00000158352 29215 17209 300434;300579 REVIEWED 6481374 SIDT1-AS1 SIDT1 antisense RNA 1 100874030 AC112128 APPROVED miscrna 41126 1604014 SIAE sialic acid acetylesterase This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011] 11 11 11 q24 121665869 121703894 - 124010903 124048927 - 124505685 124546199 - 6480464;7240710 22257840;15489334;15292578;14702039;12477932;10464298;19913121;20628086;18711365;16344560;20555325;23011869;21615338;21183218;21803834;23308225 54414 Q9HAT2 AA938533;ABBA01031254;ABBA01031255;AF300796;AF303378;AK056093;AK092224;AL137496;AMYH01004103;AP000890;AP001524;BC022456;BC040966;BC068450;CA778291;CH471065;DB027544;NG_028132;NM_001199922;NM_170601 AAG14897;AAG15386;AAH68450;ACE87400;BAG51622;CAB70771;EAW67591;NP_001186851;NP_733746;Q9HAT2 Hs.10056 1698744;2109201;5016478;5037552 CSE-_C_9780;D8S2279;GDB:434012;RH102935 AIS6;CSE-C;CSEC;LSE;MGC87009;YSG2 H-Lse;OTTHUMP00000231526;cytosolic sialic acid 9-O-acetylesterase homolog;sialate O-acetylesterase;sialic acid-specific 9-O-acetylesterase;sialic acid-specific acetylesterase II APPROVED protein-coding ENSG00000110013 18187 16764 610079;613551 REVIEWED 1603255 SIAH3 siah E3 ubiquitin protein ligase family member 3 13 13 13 q14.13 27409074 27480538 - 45252406 45323847 - 46354405 46425846 - 16344560;14702039;12477932;20379614 283514 Q8IW03 ABBA01050980;AK125411;AL157819;AMYH01005092;BC041372;DA804734;NM_198849 AAH41372;AAI48397;NP_942146;Q8IW03 Hs.368483 1749383;2111530;2111650 D13S1502;D13S1578;SHGC-111132 FLJ39203 OTTHUMP00000209200;seven in absentia homolog 3;siah-3 APPROVED protein-coding ENSG00000215475 30553 14145 VALIDATED 1351073 SIAH1 siah E3 ubiquitin protein ligase 1 This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] 16 16 q12.1 46951943 46976730 - 48394442 48419229 - 1580863;6480464;6907045 18280659;22037423;11389840;11863358;9403064;9334332;19224863;18850011;18536714;18314624;18276110;18089810;18070888;18065497;17420721;16899216;16752048;16713569;16615911;16230351;16189514;16174773;16085652;15951807;15492505;15489334;15467739;15326481;15284290;15231748;15221006;15163637;15146197;15064394;14985507;14702039;14654780;14645235;14506261;12810624;12646221;12557228;12477932;12421809;12399545;12072443;11852084;11786535;11752454;11483518;11483517;11389839;11146551;10956387;10747903;10681424;9858595;9822659;9582267;8799150;8125298;23027902;23152621;10207103;20187294;19250734;19549727;17533377;19690564;19696028;19775288;19940145;20082325;20144232;20181957;23500468;23503458;20471960;20682032;20604806;21185211;18073335;21466614;17998205;21633900;21632771;19043406;20479273;21078624;21878328;15273720;20508617;21057505;21109632;16492755;17683050;22128162;22534308;22483617;22295074;22493164;19523119;21988832;22053931;23208506;23228635 6477 H3BU09;Q8IUQ4 AB451253;AB451377;ABBA01000915;AC023818;AJ400626;AK023458;AK094663;AK225895;AK313861;AMYH01007646;AMYH01007647;BC018193;BC035562;BC042550;BC044920;BX357983;BX647064;CH471092;CN360509;EF026094;NG_029599;NM_001006610;NM_003031;U63295;U76247 AAC12950;AAC51907;AAH35562;AAH42550;AAH44920;ABK15529;ABM81916;ABM85093;BAG36589;BAG52904;BAG70067;BAG70191;CAC35542;CAE46191;EAW82726;EAW82727;NP_001006611;NP_003022;Q8IUQ4 Hs.706828 1676388;1679363;1684532;1792344;1798152;1854029;2152903;2170217;5015619;5037552;5109281 D11S3114;D1S1425;D8S2279;G20682;PMC149152P1;RH17142;RH64986;RH68065;RH68358;RH75389;SIAH1_2345 FLJ08065;HUMSIAH;SIAH1A;Siah-1;Siah-1a;hSIAH1 E3 ubiquitin-protein ligase SIAH1;OTTHUMP00000164188;OTTHUMP00000164189;OTTHUMP00000164190;seven in absentia homolog 1;siah-1;siah-1a APPROVED protein-coding ENSG00000196470 10857 03736 602212 REVIEWED 1354413 SIGLEC11 sialic acid binding Ig-like lectin 11 This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 19 19 19 q13.33 47321746 47333926 - 55144062 55156241 - 50452250 50464429 - 1580863 18629938;16151003;12975309;11986327;20203208;20237496;21467073 114132 H7C2S0;Q96RL6 AB072038;ABBA01032906;ABBA01032907;AC011452;AF337818;AMYH01009920;AY358135;CH471177;NG_030323;NM_001135163;NM_052884 AAI56823;AAK72907;AAQ88502;BAB86816;EAW52584;EAW52585;EAW52586;EAW52587;NP_001128635;NP_443116;Q96RL6 Hs.661852 5020635 D7S3207 OTTHUMP00000211434;OTTHUMP00000211435;sialic acid-binding Ig-like lectin 11;sialic acid-binding lectin 11;siglec-11 APPROVED protein-coding ENSG00000161640 15622 06196 607157 REVIEWED 1346888 SIDT1 SID1 transmembrane family, member 1 3 3 3 q13.2 111659802 111756995 + 114733908 114831112 + 113251218 113348422 + 1580863;6480464 16344560;15850781;14702039;12477932;10737800;20379614;22174421;22509261;23259602 54847 J3KPQ7;Q9NXL6 ABBA01061651;ABBA01061652;AC055740;AC112128;AI004220;AK295938;AK303385;AMYH01013396;BC117222;BC143776;BC143778;BE839090;BG484269;CH471052;DA217300;DA337075;DB217586;NM_017699 AAI17223;BAG58723;BAG64441;EAW79633;NP_060169;Q9NXL6 Hs.591291 1334843;2191351 D3S3683;MARC_17817-17818:1024940184:1 B830021E24Rik;FLJ20174;SID-1;SID1 OTTHUMP00000197051;SID1 transmembrane family member 1 protein-coding ENSG00000072858 25967 12111 606816 VALIDATED 1346882 SIGLEC13 sialic acid binding Ig-like lectin 13 474172 24184 1625453 SIGLEC14 sialic acid binding Ig-like lectin 14 19 19 19 q13.4 49196890 49201220 - 56837618 56841944 - 52145806 52150132 - 17012248;12975309;19369701 100049587 Q08ET2 AK298284;AY854038;CA439587;DC428881;NM_001098612 AAX47338;BAG60544;NP_001092082;Q08ET2 Hs.707374;Hs.741865 5106015 SHGC-146146 OTTHUMP00000230011;sialic acid-binding Ig-like lectin 14;siglec-14 protein-coding ENSG00000254415 32926 VALIDATED 1351240 SIDT2 SID1 transmembrane family, member 2 11 11 11 q23.3 114207559 114225784 + 116555149 116573371 + 117049939 117068161 + 6480464 14702039;17081983;16303743;15340161;12975309;12477932;10810093;17897319;19913121;20628086;20379614 51092 C9JBG5;E9PMC3;E9PME7;E9PPN9;F5H8L4;G3V172;H0YEI3;Q8NBJ9 ABBA01039737;AF151799;AK075137;AK075471;AK292501;AK292974;AK301501;AK303023;AMYH01004061;AP005018;AY358442;BC114522;BC114959;BX648437;CH471065;KC109742;NM_001040455 AAD34036;AAI14523;AAI14960;AAQ88807;AGC94566;BAC11427;BAC11641;BAF85190;BAF85663;BAG63012;BAG64149;EAW67283;EAW67284;EAW67285;EAW67286;EAW67287;EAW67288;EAW67289;EAW67290;EAW67291;EAW67292;EAW67293;EAW67294;EAW67295;EAW67296;NP_001035545;Q8NBJ9 Hs.712144 1736176;1763117;2110735;2146635;2148410;2165318 D11S2284E;RH18240;SGC34431;SHGC-146847;SIDT2_9663;STS-H39887 CGI-40;DKFZp686L17253;FLJ90656 OTTHUMP00000234982;OTTHUMP00000234985;SID1 transmembrane family member 2 protein-coding ENSG00000149577 24272 15345 VALIDATED 734303 SIAH2 siah E3 ubiquitin protein ligase 2 This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008] 3 3 q25 151941600 151963953 - 150458910 150481263 - 1580863;5128512;6480464 16394250 10207103;9334332;19043406;19001609;18850011;18070888;17716627;17533377;17003045;16958618;16899216;16141343;15489334;15466852;15221006;15210114;14702039;14645235;12810624;12477932;12411493;12136098;11786535;11483518;11389839;10704288;10681424;9858595;9403064;8889548;8125298;18323779;14654780;22350919;22878263;21037926;12952940;15231748;16713569;18629630;19730683;19744480;16174773;15064394;23044042;23208506;17998205;21659512;21586138;16888801;20691163;21988832;23518348;19224863;19240029;22037769;22064479;22065755;22037423;17683050;22128162;22951594;23500468;22053931;22323152 6478 C9J9D7;O43255 ABBA01058920;ABBA01058921;AC011317;AJ323446;AK055290;AK223565;AMYH01013575;BC013082;BF514387;BM970396;CH471052;NM_005067;U76248;Y15268 AAC51908;AAH13082;BAD97285;CAA75557;EAW78821;NP_005058;O43255 Hs.477959;Hs.692394 1727497;1729377;1798154;1857728;2133514;2148229;2170880 A006R18;G19157;G54350;G63006;SHGC-32660;SIAH2_2129;WI-11588 hSiah2 E3 ubiquitin-protein ligase SIAH2;OTTHUMP00000216722;OTTHUMP00000216723;seven in absentia homolog 2;siah-2 APPROVED protein-coding ENSG00000181788 10858 03737 602213 REVIEWED 1604713 SIGLEC15 sialic acid binding Ig-like lectin 15 18 18 18 q12.3 40213693 40230671 + 41659543 41676519 + 43405545 43422521 + 6480464 17483134;14702039;23035012 284266 B4DVQ9;K7EN40;Q6ZMC9 ABBA01022332;ABBA01022333;AC087685;AK025833;AK092746;AK095432;AK172835;AK290400;AK290402;AK301189;AMYH01008970;AY971516;CH471088;DC299128;NM_213602 AAY40743;BAD18800;BAF83089;BAF83091;BAG62771;EAX01462;EAX01463;NP_998767;Q6ZMC9 Hs.287692 CD33L3;HsT1361;SIGLEC-15 CD33 antigen-like 3;CD33 molecule-like 3;OTTHUMP00000244616;sialic acid-binding Ig-like lectin 15 protein-coding ENSG00000197046 27596 13011 VALIDATED 1344689 SIGLEC18P sialic acid binding Ig-like lectin 18, pseudogene 19 19 19 q13.41 48675173 48675679 + 56314798 56315504 + 51623087 51623593 + 11546777 114184 ABBA01068279;AC011473;AMYH01009951;NG_004728 SIGLECP1 APPROVED pseudo 15491 INFERRED 1353284 SIGLEC19P sialic acid binding Ig-like lectin 19, pseudogene 19 19 19 q13.41 48699096 48699546 + 56338722 56339372 + 51647011 51647461 + 11546777 114191 ABBA01068279;AC063977;AMYH01009951;NG_004741 SIGLECP2 APPROVED pseudo 15603 INFERRED 1349069 SIGLEC20P sialic acid binding Ig-like lectin 20, pseudogene 19 19 19 q13.41 48740160 48740585 + 56379781 56380406 + 51688070 51688495 + 11943481;11546777 114192 ABBA01068279;AC063977;AMYH01009951;AY040544;NG_004735 SIGLECP1;SIGLECP4 APPROVED pseudo 15609 INFERRED 1345640 SIGLEC21P sialic acid binding Ig-like lectin 21, pseudogene 19 19 19 q13.41 48754201 48754666 + 56393823 56394488 + 51702112 51702577 + 11546777 114194 ABBA01068279;AC063977;AMYH01009951;NG_004736 SIGLECP5 APPROVED pseudo 15610 INFERRED 1342613 SIGLEC22P sialic acid binding Ig-like lectin 22, pseudogene 19 19 19 q13.41 48766455 48766934 + 56406077 56406756 + 51714366 51714845 + 11546777 114195 ABBA01068279;AC063977;AMYH01009951;NG_004737 SIGLECP6 APPROVED pseudo 15611 INFERRED 1350448 SIGLEC23P sialic acid binding Ig-like lectin 23, pseudogene 19 19 19 q13.41 48819422 48820120 + 56459039 56459937 + 51767328 51768026 + 11546777 114197 ABBA01068278;AC063977;AMYH01009951;NG_004739 SIGLECP7 APPROVED pseudo 15612 INFERRED 1353041 SIGLEC24P sialic acid binding Ig-like lectin 24, pseudogene 19 19 19 q13.41 48836172 48836525 + 56475800 56476353 + 51784089 51784442 + 11546777 114196 ABBA01068278;AC063977;AMYH01009951;NG_004738 SIGLECP8 APPROVED pseudo 15613 INFERRED 1343547 SIGLEC25P sialic acid binding Ig-like lectin 25, pseudogene 19 19 19 q13.41 49015621 49016095 - 56656295 56656969 - 51964583 51965057 - 11546777 114198 ABBA01068274;AC008750;AC020914;AMYH01009952;NG_004740 SIGLECP9 APPROVED pseudo 15614 INFERRED 1354111 SIGLEC26P sialic acid binding Ig-like lectin 26, pseudogene 19 19 19 q13.41 49022940 49023821 - 56663715 56664596 - 51971903 51972784 - 11546777 114185 ABBA01068274;AC008750;AC020914;AMYH01009952;NG_004729 SIGLECP10 APPROVED pseudo 15615 VALIDATED 1350861 SIGLEC27P sialic acid binding Ig-like lectin 27, pseudogene 19 19 19 q13.41 49062698 49063123 + 56703368 56703993 + 52011657 52012082 + 11546777 114186 ABBA01068270;AC020914;AMYH01009952;NG_004730 SIGLECP11 APPROVED pseudo 15617 INFERRED 1347373 SIGLEC28P sialic acid binding Ig-like lectin 28, pseudogene 19 19 19 q13.41 49099633 49100397 - 56740291 56741252 - 52048579 52049340 - 11546777 114187 ABBA01068270;AC020914;AMYH01009952;NG_004731 SIGLECP12 APPROVED pseudo 15618 INFERRED 1344594 SIGLEC29P sialic acid binding Ig-like lectin 29, pseudogene 19 19 19 q13.41 49118750 49119228 - 56759403 56760081 - 52067691 52068169 - 11546777 114188 ABBA01068269;AC020914;AMYH01009952;NG_004732 SIGLECP13 APPROVED pseudo 15619 INFERRED 1352871 SIGLEC30P sialic acid binding Ig-like lectin 30, pseudogene 1 1 1 q24.2 143194474 143195101 + 168351284 168351911 + 170084664 170085538 + 11546777 114190 ABBA01027945;AL162428;AL445203;AMYH01001490;NG_004734 SIGLECP14 APPROVED pseudo 15623 INFERRED 1349427 SIGLEC31P sialic acid binding Ig-like lectin 31, pseudogene 19 19 19 q13.43 54144311 54144848 - 61793034 61793771 - 57101322 57101859 - 11546777 114189 ABBA01020832;AC007228;AMYH01010020;NG_004733 SIGLECP15 APPROVED pseudo 16072 INFERRED 1604804 SIGIRR single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 11 11 p15.5 395716 407397 - 405716 417397 - 5490209;6480464 20081871 21890473;22223854;12925853;15866876;10346978;19200604;16432636;16344560;15489334;14715412;14702039;12975309;12477932;11022119;16169070;19699681;20130217;20331378;21077278;20506350;21048031;21187075;20364327;22952899;21832049;22634523 59307 C9JFX4;E9PK23;E9PLG6;E9PSD9;H0YDF8;H0YDR5;Q6IA17 ABBA01015181;ABBA01015182;AC138230;AK025099;AK093427;AK172830;AMYH01003283;AMYH01003284;AMYH01003285;AY358342;BC003591;BC025953;BC106007;BX369506;CH471158;CQ893567;CR457338;DA963481;DB112269;NM_001135053;NM_001135054;NM_021805 AAH03591;AAH25953;AAI06008;AAQ88708;ABM84379;ABM87289;BAB15066;BAD18795;CAG33619;CAH68705;EAX02324;NP_001128525;NP_001128526;NP_068577;Q6IA17 Hs.501624 2110737;2163497 SHGC-64262;SIGIRR_2903 MGC110992;TIR8 OTTHUMP00000229641;OTTHUMP00000229642;OTTHUMP00000229643;OTTHUMP00000229644;OTTHUMP00000229645;single Ig IL-1-related receptor;single Ig IL-1R-related molecule;single immunoglobulin domain IL1R1 related;single immunoglobulin domain-containing IL1R-related protein;toll/interleukin-1 receptor 8 protein-coding ENSG00000185187 30575 12018 605478 VALIDATED 1323674 SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008] 20 20 p13 3615617 3635775 - 3667617 3687775 - 1580863;6480464 17328080;11133773;19285973;18414664;18383365;16002716;15790807;14702039;11780052;11238599;11214971;10610356;10406848;8530048;20800603;12477932;17330143;19950173;20237496;20653431;22249367;23271952;23610394 6614 H7C0M6;Q9BZZ2 ABBA01053826;AF230073;AK024459;AK024462;AK024479;AK057560;AK122586;AL109804;AL833688;AMYH01011677;AY927519;BC141884;CD365566;CH471133;NM_023068 AAI41885;AAK00757;BAB15749;BAB15752;BAB15769;BAB71527;BAC56927;EAX10517;EAX10518;NP_075556;Q9BZZ2 Hs.31869 1335756;1670229 D20S867;STS-H22126 CD169;DKFZp667F058;FLJ00051;FLJ00055;FLJ00073;FLJ00411;FLJ32150;SIGLEC-1;SN;dJ1009E24.1 OTTHUMP00000030124;sialic acid-binding Ig-like lectin 1;sialic acid-binding immunoglobulin-like lectin 1;sialoadhesin APPROVED protein-coding ENSG00000088827 11127 02854 600751 REVIEWED 1354067 SIGLEC17P sialic acid binding Ig-like lectin 17, pseudogene 19 19 19 q13.3 48722674 48728870 + 56362466 56368590 + 51670585 51676780 + 6480464 12477932;11943481;11546777;22665810 284367 ABBA01068279;AC063977;AF161341;AK301336;AMYH01009951;AY040545;BC035688;BC041072;BC050999;DC340819;NR_047529;NR_047530;NR_047531 AAF28901;BAG62884 Hs.132045 HSPC078;SIGLECP2;SIGLECP3 APPROVED pseudo ENSG00000171101 15604 VALIDATED 1316634 SIGLEC10 sialic acid binding Ig-like lectin 10 SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002] 19 19 19 q13.3 48964319 48972101 - 56605087 56613263 - 51913275 51921057 - 1580863;6480464 17672918;16344560;15489334;12975309;12477932;12163025;12055638;11409878;11358961;11284738;19861682;20237496 89790 B7ZL06;E9PJA1;E9PKV9;E9PL79;Q96G54 ABBA01068274;AC008750;AF301007;AF310233;AF311905;AK122619;AK289900;AK290542;AK292025;AK294185;AK303514;AK303717;AK308982;AMYH01009952;AY029277;AY032685;AY358337;BC009955;BC101725;BC143497;BC143500;CH471135;NM_001171156;NM_001171157;NM_001171158;NM_001171159;NM_001171160;NM_001171161;NM_033130 AAH09955;AAI01726;AAI43498;AAI43501;AAK40255;AAK40256;AAK51124;AAK55139;AAK92542;AAM83254;AAQ88703;BAC85493;BAF82589;BAF83231;BAF84714;BAH11692;BAH13979;BAH14029;EAW72012;EAW72013;EAW72014;EAW72015;EAW72016;NP_001164627;NP_001164628;NP_001164629;NP_001164630;NP_001164631;NP_001164632;NP_149121;Q96LC7 Hs.284813 5015619;5015961;5016478;5022450 D10S275;D11S3114;D15S1477;GDB:434012 MGC126774;PRO940;SIGLEC-10;SLG2 OTTHUMP00000230049;OTTHUMP00000230050;OTTHUMP00000230051;OTTHUMP00000230052;OTTHUMP00000230053;OTTHUMP00000230054;sialic acid binding Ig-like lectin 10 Ig-like lectin 7;sialic acid-binding Ig-like lectin 10;siglec-like gene 2;siglec-like protein 2 APPROVED protein-coding ENSG00000142512 15620 07307 606091 VALIDATED 1346125 SIGLEC16 sialic acid binding Ig-like lectin 16 (gene/pseudogene) 19 19 19 q13.33 47342409 47348332 + 55164724 55170888 + 50472912 50479076 + 6480464 18629938;15489334;15057824;12477932;11986327;11546777 400709 A6NMB1 ABBA01032906;AC011452;AMYH01009920;BC030222;BC039008;NR_002825 A6NMB1 Hs.568076;Hs.738007 5022651 D11S2921 SIGLECP16;Siglec-P16 pseudo 24851 PROVISIONAL 1350480 SIGLEC12 sialic acid binding Ig-like lectin 12 (gene/pseudogene) Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 49045653 49056083 - 56686425 56696855 - 51994613 52005043 - 15489334;14702039;12975309;12477932;11546777;11409877;11328818;8125298;19913121;20628086;20237496;21555517 89858 M0QYF3;Q96PQ1 ABBA01068270;ABBA01068271;AC020914;AF277806;AF282256;AI132995;AK095919;AK225931;AMYH01009952;AY358140;BC035809;CH471135;NM_033329;NM_053003 AAH35809;AAK51233;AAK51234;AAK71521;AAQ88507;BAG53167;EAW72022;EAW72023;NP_201586;NP_443729;Q96PQ1 Hs.249741 2106613 SIGLECL1__5415 FLJ38600;S2V;SIGLECL1;SLG;Siglec-12;Siglec-L1;Siglec-XII OTTHUMP00000230066;SIGLEC-like 1;sialic acid-binding Ig-like lectin 12;sialic acid-binding Ig-like lectin-like 1 APPROVED protein-coding ENSG00000254521 15482 16195 606094 REVIEWED 1348004 SIGLEC6 sialic acid binding Ig-like lectin 6 19 19 19 q13.3 49073824 49086158 - 56714795 56726876 - 52022784 52035110 - 1580863;6480464 9465907;18029348;18818296;17580316;16344560;12477932;10428856;20237496;21880722 946 O43699 ABBA01068270;AC020914;AK300170;AK300182;AK308174;AK309903;AMYH01009952;AU138048;AY040542;BC035359;BC140798;CA495365;CH471135;D86358;D86359;NM_001177547;NM_001177548;NM_001177549;NM_001245;NM_198845;NM_198846;U71382 AAB70702;AAH35359;AAI40799;AAK83655;BAA24983;BAA24984;BAG61951;BAG61961;EAW72024;EAW72025;EAW72026;EAW72027;NP_001171018;NP_001171019;NP_001171020;NP_001236;NP_942142;NP_942143;O43699 Hs.720304 CD327;CD33L;CD33L1;CD33L2;CDw327;OBBP1;SIGLEC-6 CD33 antigen-like 1;OTTHUMP00000164940;OTTHUMP00000164941;OTTHUMP00000164942;OTTHUMP00000207124;OTTHUMP00000207125;obesity-binding protein 1;sialic acid-binding Ig-like lectin 6 protein-coding ENSG00000105492 10875 16058 604405 VALIDATED 1349915 SIGLEC7 sialic acid binding Ig-like lectin 7 19 19 q13.3 56337370 56348595 + 51647011 51647461 + 1580863;6480464 10499918;10567377;18331725;16828866;16732727;16623661;15703304;15557178;15292262;14747738;12778482;12477932;12438315;11943481;11774609;11389909;10764831;10611343;10514511;8188688;19710502;20237496;23029261;17138568;11546777 27036 M0QY65;Q9Y286 ABBA01068279;AC063977;AF170485;AF178981;AF193441;AJ007395;AJ130710;AJ130711;AJ130712;AJ130713;AK314875;AMYH01009951;AY040543;BC028150;BX644517;CH471135;NM_001277201;NM_014385;NM_016543;NR_102350 AAF06790;AAF12759;AAF44346;AAH28150;AAK83656;BAG37390;CAB46011;CAB51126;CAB51127;CAB51128;CAB51129;EAW71986;EAW71987;NP_001264130;NP_055200;NP_057627;Q9Y286 Hs.655393 2106613;2109841;5125561 D19S1075;SIGLEC7_9514;SIGLECL1__5415 AIRM1;CD328;CDw328;D-siglec;QA79;SIGLEC-7;SIGLEC19P;SIGLECP2;p75;p75/AIRM1 AIRM-1;QA79 membrane protein;adhesion inhibitory receptor molecule 1, siglec-7;sialic acid binding immunoglobulin-like lectin 7;sialic acid-binding Ig-like lectin 7 protein-coding ENSG00000168995 10876 05102 604410 VALIDATED 1313458 SIGLEC5 sialic acid binding Ig-like lectin 5 This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012] 19 19 q13.3 56806996 56825525 - 52114756 52133727 - 1580863;6480464 18029348;19596804;18022638;17675532;17012248;16828866;16732727;16189514;15769739;15489334;15057824;12763136;12477932;11943481;10428856;10343116;9731071;8889549;8125298;21795693;20231688;20237496;22215570;22945238 8778 O15389 ABBA01068267;ABBA01068268;AC018755;AF170484;AK225753;AMYH01009952;AY040820;BC029896;BX106622;CH471135;DC324223;H71235;NM_003830;U71383 AAB70703;AAD50978;AAF87846;AAH29896;AAK77223;ABM83359;EAW72033;NP_003821;O15389 Hs.310333 5106015 SHGC-146146 CD170;CD33L2;OB-BP2;OBBP2;SIGLEC-5 CD33 antigen-like 2;OB binding protein-2;OB-binding protein 2;OTTHUMP00000230009;obesity-binding protein 2;sialic acid-binding Ig-like lectin 5;sialic acid-binding immunoglobulin-like lectin 5 APPROVED protein-coding ENSG00000105501 10874 05011 604200 REVIEWED 1353065 SIGLEC9 sialic acid binding Ig-like lectin 9 19 19 q13.41 56319977 56325379 + 51628137 51639520 + 1580863;6480464 10801860;19196661;18558361;18325328;16828866;16732727;15827126;15557178;15292262;15057824;14693915;12975309;12477932;10903842;10801862;10652563;20497550;19295491;19542910;20237496;15342556;20971061;20733319;21821708 27180 M0R2D4;Q9Y336 AB026265;ABBA01068279;AC011473;AC063977;AF135027;AF227924;AF247180;AK297043;AK315272;AMYH01009951;AY358913;BC035365;BP305376;CH471135;NM_001198558;NM_014441 AAD26428;AAF71455;AAF87223;AAG23261;AAH35365;AAQ89272;ABM83402;ABM86614;BAB41100;BAG59570;EAW71985;NP_001185487;NP_055256;Q9Y336 Hs.245828 CD329;CDw329;FOAP-9;OBBP-LIKE;siglec-9 OB binding protein-like;protein FOAP-9;sialic acid-binding Ig-like lectin 9;siglec-9 protein-coding ENSG00000129450 10878 16133 605640 VALIDATED 1602049 SIGLECL1 SIGLEC family like 1 19 19 19 q13.41 48813054 48824675 + 56452776 56464394 + 51760964 51772582 + 14702039;12477932;23362303;11546777 284369 B7ZLS6;M0QY48;M0QY54;M0R2N8;Q8N7X8 AA454064;ABBA01068278;AC063977;AK097554;AK311591;AMYH01009951;BC126357;BC126359;BC144002;CH471135;HC006992;HC044797;NM_173635;NR_102324 AAI26358;AAI26360;AAI44003;ADR82847;BAC05098;CBH19301;CBH30728;EAW71997;EAW71998;NP_775906;Q8N7X8 Hs.381087 C19orf75;FLJ40235;MGC161635;MGC161637;SIGLEC23P;SIGLECP7 SIGLEC family-like protein 1;hypothetical protein LOC284369;sialic acid binding Ig-like lectin, pseudogene 7;uncharacterized protein C19orf75 APPROVED protein-coding ENSG00000179213 26856 08275 VALIDATED 1351533 SIGLEC8 sialic acid binding Ig-like lectin 8 Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010] 19 19 q13.33-q13.41 56646063 56653520 - 51954251 51961708 - 1580863;6480464 15563466;22079334;10625619;19458105;19178537;18558361;18036650;17690326;16344560;16157303;15489334;12609831;12477932;11284738;11095983;10856141;20087405;20237496;22324980;21938510;22683541 27181 C9JT30;M0R326;Q9NYZ4 ABBA01068274;AC020914;AF195092;AF223403;AF287892;AF310234;AK290149;AK290412;AK295589;AMYH01009952;BC053319;CH471135;DA388103;NM_014442 AAF27622;AAF34702;AAG00573;AAH53319;AAK55140;BAF82838;BAF83101;BAG58481;EAW72018;EAW72019;EAW72020;NP_055257;Q9NYZ4 Hs.447899 5014019;5037552;5109281 D1S1425;D5S2354;D8S2279 MGC59785;SAF2;SIGLEC-8;SIGLEC8L CDw329;SAF-2;sialic acid-binding Ig-like lectin 8;sialoadhesin family member 2 APPROVED protein-coding ENSG00000105366 10877 16132 605639 VALIDATED 6481030 SIK3-IT1 SIK3 intronic transcript 1 (non-protein coding) 100874315 AK058022;AP003070;AP006216;NR_046846 Hs.668988 1828052;2003668;2003670;2003690;2003692;2003694;2003696 ECD15149;REN72746;REN72747;REN72757;REN72758;REN72759;REN72760 FLJ25293 miscrna 41495 VALIDATED 69451 SIK1 salt-inducible kinase 1 21 21 21 q22.3 29940650 29953256 - 43658823 43671430 - 44834395 44847002 - 1580863;6480464 18725536;14976552;16306228;21549091;17939993;17565599;12477932;10830953;9920726;7893599;16341674;20223287;19622832;20379614;23256157;18348280;21987572;16396636;19322201;22378783;22395973 150094 P57059 AB047786;ABBA01074121;ABBA01074122;AI073528;AK131076;AMYH01012277;AMYH01012278;AP001046;AP001047;AP001751;BC038504;BM840872;CF528907;CH471079;NM_173354 AAH38504;ABM83392;ABM86605;BAA95536;BAC85126;BAD74070;EAX09495;EAX09496;NP_775490;P57059 Hs.282113;Hs.700423 1337928;1672298;1696892;1745937;2110967;2123308;2174048 D21S1890;D21S413E;G34752;G64284;RH69307;WI-18985;e04503rbk MSK;SIK;SNF1LK OTTHUMP00000109458;SIK-1;SNF1-like kinase;myocardial SNF1-like kinase;salt-inducible protein kinase 1;serine/threonine protein kinase;serine/threonine-protein kinase SIK1;serine/threonine-protein kinase SNF1-like kinase 1;serine/threonine-protein kinase SNF1LK protein-coding ENSG00000142178 11142 09301 605705 VALIDATED 68519 SIGMAR1 sigma non-opioid intracellular receptor 1 This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2008] 9 9 p13.3 34624719 34627768 - 34634719 34637768 - 1580863;6480464 8954936;19439245;19279232;19204726;18539593;17961544;17457031;17419803;16954606;16945406;16472803;16388898;16319298;15542696;15489334;15298647;15164053;14706429;14702039;14567761;12477932;11687279;11476895;11149946;10406945;10087012;9453537;9341151;8125298;18583979;20053954;20178807;20468064;20562859;21031579;21744858;21211548;21549171;22079628;21680736;22511599;21605063;23041531;18781797;21987572;23536676;22433979;22561649;21842496;21139048;21486275;21906983;22322890;22952230;17110338;21963094;21988832;22739338;22818711 10280 A2A3U5;Q5T1J1;Q7Z653 ABBA01065009;AF001975;AF001976;AF001977;AF226604;AK098451;AK130502;AK222899;AK291092;AK299130;AL450283;AMYH01019338;AY633611;BC004899;BC006307;BC007839;BC010104;CH471071;CR457075;DQ644568;DQ647702;DQ656583;NG_029945;NM_005866;NM_147157;U75283;U79528 AAB50402;AAB51238;AAC04507;AAF64280;AAH04899;AAH07839;AAV33304;ABG29111;ABG36559;ABG46369;ABM83807;ABM87129;BAC05307;BAD96619;BAF83781;BAG61183;CAG33356;EAW58431;EAW58434;EAW58435;EAW58436;NP_005857;NP_671513;Q99720 Hs.522087 1688955;2109601;2148943 OPRS1__6118;RH15753;RH16220 ALS16;FLJ25585;MGC3851;OPRS1;SR-BP1;SRBP OTTHUMP00000021286;OTTHUMP00000021287;OTTHUMP00000159911;SIG-1R;SR-BP;SR31747 binding protein 1;SR31747-binding protein;aging-associated gene 8 protein;hSigmaR1;opioid receptor, sigma 1;sigma 1-type opioid receptor;sigma non-opioid intracellular receptor 1;sigma1 receptor;sigma1-receptor;sigma1R;type I sigma receptor APPROVED protein-coding ENSG00000147955 8157 03580 601978;614373 REVIEWED 1602207 SIKE1 suppressor of IKBKE 1 SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008] 1 1 1 p13.2 113541323 113552531 - 115113623 115124831 - 115312100 115323308 - 6480464;6907045 16344560;16281057;12477932;8125298;18782753;18029348;17620012;19156129;21906983 80143 Q9BRV8 ABBA01068467;AI039175;AI221103;AK024821;AK126316;AK225734;AL096773;AMYH01000967;BC005934;CH471122;CR749219;CR936771;DA950119;DB459255;NM_001102396;NM_025073;NR_049741;NR_049742 AAH05934;ACE87033;BAB15020;CAH18076;EAW56620;NP_001095866;NP_079349;Q9BRV8 Hs.709277 1663206;1688522;5015961;5022322 D11S2560;D15S1477;RH66176;SHGC-75357 DKFZp686A0768;FLJ21168;RP5-1000E10.4;SIKE OTTHUMP00000013884;OTTHUMP00000013885;suppressor of IKBKE 1;suppressor of IKK epsilon;suppressor of IKK-epsilon APPROVED protein-coding ENSG00000052723 26119 07958 611656 VALIDATED 1320567 SIM1 single-minded homolog 1 (Drosophila) SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. [provided by RefSeq, Jul 2008] 6 6 q16.3-q21 100943471 101018272 - 100836750 100911551 - 1624165;1580863;6480464;7240710 10587584 14697214;9020169;8812055;9199934;18029348;19401419;19054571;16924270;16709610;14988267;14574404;12477932;12161602;11782478;11448938;11076863;20734064;20075856;20220015;21512513;22930747 6492 P81133 ABBA01014470;AK308090;AL121948;AMYH01016544;CH471051;NG_008230;NM_005068;U70212;Z86062 AAB62395;AAI11932;AAI18501;EAW48451;NP_005059;P81133 Hs.520293 1715317;1756355;1793946;1794710;2106617;2159096 AL022494;PMC310662P1;PMC34708P3;RH120490;SHGC-143334;SIM1__5418 bHLHe14 OTTHUMP00000016902;class E basic helix-loop-helix protein 14;single-minded homolog 1 2289234;2289252 BW141_H;BW142_H APPROVED protein-coding ENSG00000112246 10882 07049 601665;603128 REVIEWED 1317540 SIM2 single-minded homolog 2 (Drosophila) SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim gene encodes a transcription factor that is a master regulator of fruit fly neurogenesis. SIM2 maps within the so-called Down syndrome chromosomal region. Based on the mapping position, its potential function as transcriptional repressor and similarity to Drosophila sim, it is proposed that SIM2 may contribute to some specific Down syndrome phenotypes [provided by RefSeq, Jul 2008] 21 21 q22.13 36993861 37044088 + 38071991 38122510 + 1580863;6480464 12530058;8661114;9199934;19169276;18160708;16840439;16129820;15963499;15946822;14701734;14697214;14550949;12676991;12477932;11782478;11404025;10830953;10400987;9503011;9271372;9020169;8905236;8812055;7647800;7568099;7485157;18029348;19668230;19737960;20137643;22777354;22174909;22048266;20467438;22939624;23343470 6493 H7BZX8;Q14190 AB003185;ABBA01057403;ABBA01057404;AI625864;AJ001858;AJ001859;AMYH01012229;AP000697;BC110444;CH471079;D44444;D44445;D44446;D44447;D44448;D70838;D85922;NG_029519;NM_005069;NM_009586;U80456;U80457;X83514;X83515;X84790 AAB62396;AAB62397;AAI10445;BAA07906;BAA07907;BAA07908;BAA07909;BAA07910;BAA11108;BAA12919;BAA21489;BAA21490;BAA89433;CAA05055;CAA59261;EAX09737;EAX09738;NP_005060;NP_033664;Q14190 Hs.146186 1672897;1730863;1730865;1735032;1792548;2139134;2142276;2160996;2184531;5022450;5022588 D10S275;D21S1726E;D21S1841;D21S395;D21S396;D5S1597E;G34611;PMC153629P1;SHGC-51958;SHGC-52065;SHGC-87636 HMC13F06;HMC29C01;MGC119447;SIM;bHLHe15 OTTHUMP00000109043;OTTHUMP00000109044;class E basic helix-loop-helix protein 15;single-minded homolog 2;single-minded homolog 2, short isoform;transcription factor SIM2 APPROVED protein-coding ENSG00000159263 10883 02935 600892 REVIEWED 1346987 SIK2 salt-inducible kinase 2 11 11 11 q23.1 108626358 108750800 + 110978380 111102845 + 111473170 111597635 + 1580863;6480464 14702039;14976552;15511237;15489334;15454081;15067358;12624099;12477932;12168954;11230166;9872452;8889548;14532992;20367563;18029348;20379614;16712791;20708153;21832049;18348280;16306228;21987572;21139048;21890473;21906983;22462548;21963094;23322770;23393134 23235 Q9H0K1 AB018324;AB084424;AB096248;ABBA01039816;ABBA01039817;ABBA01039818;ABBA01039819;AK000396;AK096463;AK291233;AL136764;AMYH01004031;AP000925;BC013612;BC078150;BC113459;BC117183;BM799630;BM982514;CB124295;CH471065;EF445030;NM_015191 AAH13612;AAH78150;AAI13460;AAI17184;ACA06072;BAA34501;BAB91442;BAF83922;CAB66698;EAW67146;EAW67147;EAW67148;EAW67149;NP_056006;Q9H0K1 Hs.269128 1646718;1672361;1673842;1687996;1693496;1695888;1730757;1782496;1856669;2111788;2111810;2128040;2137012;2151475;2171341;2179030;5014051;5021872;5037552 A008B02;A008R11;D11S4480;D11S4495;D11S966E;D8S2278;D8S2279;G30492;NIB1902;RH36390;RH99301;SHGC-172824;SHGC-58333;SHGC-78845;STS-N25323;STS-Z40795;WI-14282;WI-15500;sY3084 DKFZp434K1115;KIAA0781;LOH11CR1I;QIK;SNF1LK2 OTTHUMP00000198122;SIK-2;SNF1-like kinase 2;qin-induced kinase;salt-inducible protein kinase 2;salt-inducible serine/threonine kinase 2;serine/threonine-protein kinase SIK2;serine/threonine-protein kinase SNF1-like kinase 2 protein-coding 21680 12348 608973 VALIDATED 1603681 SIK3 SIK family kinase 3 11 11 11 q23.3 113871923 114126759 - 116219328 116474203 - 116714118 116968993 - 6480464 15334068;14976552;16306228;18348280;18266979;18193046;15489334;16968750;15134808;14702039;12477932;12168954;10231032;8889549;8889548;20936779;21149283;20056645;20379614;22437554;21399663;22589738;22306654;21906983;19322201;23393134;21963094;23505323;18729074 23387 A1A5A8;A1A5A9;H0Y494;H0Y4E8;H7C038;H7C042;H7C3X8;J3KPC8;Q9Y2K2 AA044062;AB209327;ABBA01039742;ABBA01039743;ABBA01039744;ABBA01039745;ABBA01039746;AI369377;AI479678;AI765994;AI866497;AK022302;AK122838;AMYH01004055;AMYH01004056;AMYH01004057;AP000936;AP003070;AP006216;AY598338;BC035583;BC063887;BC086858;BC121188;BC128510;BC128511;BF055085;BK008396;BM127054;BM682365;BQ018415;BQ219303;CH471065;NM_001281748;NM_001281749;NM_025164;W90813 AAH35583;AAH63887;AAH86858;AAI21189;AAI28511;AAI28512;AAT06749;BAB14006;BAD92564;BAG53754;DAA64471;EAW67278;EAW67279;NP_001268677;NP_001268678;NP_079440;Q9Y2K2 Hs.167451 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855;stSG601856;stSG601857;stSG601858;stSG601859;stSG601860;stSG601861;stSG601862;stSG601863;stSG601864;stSG601865;stSG601866;stSG601867;stSG601868;stSG601869;stSG601870;stSG601871;stSG601872;stSG601873;stSG601874;stSG601875;stSG601876;stSG601877;stSG601878;stSG601879;stSG601880;stSG601881;stSG601882;stSG601883;stSG601884;stSG601885;stSG601886;stSG601887;stSG601888;stSG601889;stSG601890;stSG601891;stSG601892;stSG601893;stSG601894;stSG601895;stSG601897;stSG601900;stSG601901;stSG601902;stSG601903;stSG601904;stSG601905;stSG601906;stSG601907;stSG601908;stSG601909;stSG601911;stSG601912;stSG601913;stSG601914;stSG601915;stSG601916;stSG601917;stSG601918;stSG601919;stSG601920;stSG601921;stSG601922;stSG601923;stSG601924;stSG601925;stSG601926;stSG601927;stSG601928;stSG601929;stSG601930;stSG601931;stSG601932;stSG601933;stSG601934;stSG601935;stSG601936;stSG601937;stSG601938;stSG601939;stSG601940;stSG601941;stSG601943;stSG601944;stSG601945;stSG601946;stSG601947;stSG601948;stSG601949;stSG601950;stSG601951;stSG601952;stSG601953;stSG601954;stSG601955;stSG601956;stSG601959;stSG601960;stSG601961;stSG601962;stSG601963;stSG601964;stSG601965;stSG601966;stSG601967;stSG601968;stSG601969;stSG601970;stSG601971;stSG601974;stSG601975;stSG601976;stSG601977;stSG601978;stSG601979;stSG601980;stSG601981;stSG601982;stSG601983;stSG601984;stSG601985;stSG601986;stSG601987;stSG601988;stSG601989;stSG601990;stSG601991;stSG601992;stSG601993;stSG601994;stSG601995;stSG601996;stSG601997;stSG601998;stSG601999;stSG602001;stSG602002;stSG602003;stSG602004;stSG602005;stSG602006;stSG602007;stSG602008;stSG602009;stSG602010;stSG602011 FLJ12240;KIAA0999;L19;QSK;SIK-3 OTTHUMP00000069593;OTTHUMP00000069594;OTTHUMP00000198139;SIK-3;salt-inducible kinase 3;serine/threonine-protein kinase QSK;serine/threonine-protein kinase SIK3 APPROVED protein-coding ENSG00000160584 29165 11121 614776 VALIDATED 1605350 SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 5 5 q31 138310308 138561964 - 138282409 138534065 - 6480464;6907045;7240710 18395226;11101517;19471582;18285827;17026626;16303743;16282978;16282977;15489334;15231748;14512967;12975309;12477932;12356756;2791656;16712791;20430899;20111056;20301371;21963094;21988832;23000965;21139048;21890473;21906983;22115007;22219183 64374 A0RZB6;D6R940;D6RAI3;D6RBP7;D6REA1;D6RG16;D6RIU8;Q9H173 ABBA01068651;ABBA01068652;ABBA01068653;AC008614;AC011378;AC011405;AF547994;AJ299442;AK074624;AK075177;AMYH01015646;AMYH01015647;AMYH01015648;AMYH01015649;AY358950;BC011568;BI561751;CA415266;CB125000;CD369479;CH471062;CQ783256;DQ059315;DQ173771;DQ173772;NG_008112;NM_001037633;NM_022464 AAH11568;AAN84477;AAQ89309;AAY89591;ABA60425;ABA60426;ABW03472;ABW03779;BAC11096;BAC11452;CAC17773;CAF86460;EAW62120;EAW62121;NP_001032722;NP_071909;Q9H173 Hs.483521 1339280;1678107;1780834;1780842;5123820 D5S1372;RH91427;STS-W04672;bac5235T;bac5237T BAP;MSS;ULG5 BiP-associated protein;OTTHUMP00000159527;OTTHUMP00000223767;OTTHUMP00000223768;nucleotide exchange factor SIL1 APPROVED protein-coding ENSG00000120725 24624 12150 248800;608005 REVIEWED 1604161 SIMC1 SUMO-interacting motifs containing 1 5 5 5 q35.2 172729463 172780341 - 175597969 175705598 + 175665370 175772992 + 6480464 15489334;15144186;14702039;12477932;20936779;16169070;21900206;21890473;21906983;23707407;23086935 375484 B4DRM7;Q8NDZ2 ABBA01009220;ABBA01033501;ABBA01033502;ABBA01033503;AC138956;AC139493;AK126204;AK299336;AMYH01015858;AMYH01015859;BC032390;BC037298;BC066980;BC073880;BX390643;DC372557;KF151170;NM_198567 AAH32390;AAH37298;AAH66980;AAH73880;AGN32860;BAG61339;NP_940969;Q8NDZ2 Hs.719847 1674569;1681460;1683627;1846848;2146106;2153753;2158442;5093476 A009P29;G20706;G32741;RH41058;RH79163;SGC30272;SGC33650;WI-13355 C5orf25;FLJ44216;FLJ52236;FLJ56998;MGC33586;MGC40402;MGC90345;OOMA1;PLEIAD OTTHUMP00000161247;OTTHUMP00000202935;OTTHUMP00000202936;SUMO-interacting motif-containing protein 1;hypothetical protein LOC375484;oocyte maturation associated 1;uncharacterized protein C5orf25 APPROVED protein-coding ENSG00000170085 24779 13486 VALIDATED 1346963 SIPA1 signal-induced proliferation-associated 1 The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008] 11 11 q13 65162171 65174965 + 65405578 65418391 + 1580863;2312656;6480464;6484113 18431594 9346962;12059963;10373454;7799964;9183624;19124506;19089925;18492118;18033671;17081983;16563182;15489334;15456879;12590145;12477932;12091396;11461903;9651531;9027487;8889548;19913121;20628086;19765277;19773279;19825179;19906411;22990111 6494 E9PIB3;F6RY50;Q96FS4 AB005666;ABBA01024108;AF029789;AF052232;AF052233;AF052237;AF052238;AI307277;AK303551;AK308234;AK310068;AMYH01003723;AP001362;BC010492;BC110353;BM677738;CH471076;DN999403;NM_006747;NM_153253 AAC32547;AAC32559;AAH10492;AAI10354;BAA22197;BAG64575;EAW74421;EAW74422;EAW74423;NP_006738;NP_694985;Q96FS4 Hs.530477 2109845;2134782 SIPA1_8629;STS-N32829 MGC102688;MGC17037;SPA1 GTPase-activating protein Spa-1;OTTHUMP00000233396;OTTHUMP00000233399;OTTHUMP00000233400;p130 SPA-1;signal-induced proliferation-associated gene 1;signal-induced proliferation-associated protein 1;sipa-1 APPROVED protein-coding ENSG00000213445 10885 03713 602180 REVIEWED 1348412 SIN3B SIN3 transcription regulator homolog B (yeast) 19 19 p13.11 16801218 16852164 + 16940209 16991164 + 1580863;6480464;6484113 19505873;12670868;18586123;18205948;16464847;16166625;15489334;15467743;14702039;12590135;12477932;12398767;12015313;11959842;11909966;11370785;11101889;10570134;10357820;9734811;9627120;7889570;10444591;19913121;20628086;20547842;16197452;19654306;20170641;9620779;14559996;16449650;21041482;11046157;11102443;11283269;14749338;15173382;15197246;15935060;18451802;9611234;19553677;20332121;20585571;17573780;17991736;22028823;19471022;21139048;21693764;21906983;22203677;16469706;22505724 23309 M0QYC5;M0R271;O75182 AB014600;ABBA01051171;ABBA01051172;AC008737;AK001633;AK295618;AK311023;AMYH01009566;AY706204;BC005113;BC025026;BC063531;BC110821;CH471106;DB504745;NM_015260 AAH05113;AAH25026;AAH63531;AAI10822;AAI72412;AAU01916;BAA31675;BAH12128;EAW84564;EAW84565;NP_056075;O75182 Hs.13999 1337307;1340913;1656051 A005U36;D19S199;D19S930 KIAA0700 SIN3 homolog B, transcription regulator;SIN3 homolog B, transcriptional regulator;histone deacetylase complex subunit Sin3b;paired amphipathic helix protein Sin3b;transcriptional corepressor Sin3b APPROVED protein-coding ENSG00000127511 19354 09691 607777 VALIDATED 1354355 SIRPAP1 signal-regulatory protein alpha pseudogene 1 22 22 22 q12.2 14737958 14740637 + 29268342 29271028 + 30938242 30940921 + 10591208;9847074 23755 ABBA01055300;AC004832;AMYH01012707;NG_002457 AAF19260 PTPNS1L APPROVED pseudo 9663 INFERRED 1320248 SIRPB2 signal-regulatory protein beta 2 20 20 20 p13 1551602 1568598 - 1403236 1420131 - 1455236 1472233 - 6480464 17178844;16339511;14702039;12213963 284759 B3KTG0;F2Z2Y9;F5H204;Q5JXA8;Q5JXA9 ABBA01053771;AK095499;AK294440;AK297072;AL109658;AMYH01011663;AY424277;BG539998;BM285394;BQ635335;CH471133;DC313096;DC358609;DN998473;NM_001122962;NM_001134836 AAR04783;BAG53072;BAG59591;BAH11767;EAX10626;NP_001116434;NP_001128308;Q5JXA9 Hs.721685 1754969;2219574 PTPNS1L3__5613;SHGC-141894 PTPN1L;PTPNS1L3;dJ776F14.2 OTTHUMP00000029984;OTTHUMP00000029985;SIRP-beta-2;protein tyrosine phosphatase non-receptor type substrate 1-like 3;protein tyrosine phosphatase non-receptor type substrate protein;protein tyrosine phosphatase, non-receptor type 1-like;protein tyrosine phosphatase, non-receptor type substrate 1-like 3;signal-regulatory protein beta-2 protein-coding ENSG00000196209 16247 VALIDATED 1322892 SIPA1L3 signal-induced proliferation-associated 1 like 3 19 19 19 q13.13 35198809 35501239 + 43089708 43390849 + 38397868 38699009 + 1580863;6480464 15592455;12477932;12168954;9628581;15778465;20379614;20360068;21906983;19322201 23094 M0QX89;M0R185;M0R2Q7;M0R2W1;O60292;Q8IUV1 AB011117;ABBA01040650;ABBA01040651;ABBA01040652;ABBA01040653;ABBA01040654;ABBA01040655;ABBA01040656;ABBA01040657;ABBA01040658;ABBA01040659;ABBA01040660;ABBA01040661;ABBA01040662;ABBA01040663;ABBA01040664;ABBA01040665;ABBA01040666;ABBA01040667;AC008395;AC011465;AC011479;AC016582;AC098790;AMYH01009773;AMYH01009774;AMYH01009775;AMYH01009776;AY168880;BC036863;BC150620;BM193478;CH471126;NM_015073 AAH36863;AAI50621;AAO12531;BAA25471;EAW56758;NP_055888;O60292 Hs.655502 1331558;1338234;1749801;1765073;1771448;2107579;2130982;2146099;2179334;7185331;7187636 D19S1069;D19S220;D19S228;D19S557;RH48216;SHGC-111541;SHGC-148608;SIPA1L3__6837;STS-T56936 SPAL3 OTTHUMP00000081862;SIPA1-like protein 3;SPA-1-like 3;SPA-1-like protein 3;signal-induced proliferation-associated 1-like protein 3 protein-coding ENSG00000105738 23801 18755 VALIDATED 1323140 SIN3A SIN3 transcription regulator homolog A (yeast) The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008] 15 15 q24.2 73450328 73530979 - 75661720 75748124 - 1580863;6480464;6484113;6907045 15509555;15489334;15467743;15451426;15345747;15314177;15302935;15235594;14749338;14702039;14647463;14559791;14525983;12943729;12724404;12670868;12634383;12612053;12590135;12527908;12493763;12477932;12466959;12398767;12391155;12242670;12150998;12124384;12091390;12036432;12015313;12007404;12006497;11909966;11897684;11882901;11719366;11486045;11441023;11438660;11430826;11416139;11390640;11359905;11283269;18505829;18372343;18316480;17854949;17209038;17081983;16805913;16344560;16166625;15684083;11259580;11238380;11150306;11118440;11106735;11102443;11013263;10950960;10944117;10933397;10823891;10773092;10766745;10688671;10640276;10444591;10441327;10357820;9804427;9790534;9765306;9627120;9184233;9150135;9150134;9150133;8889548;8521822;7889570;7601471;10431247;10207062;11784859;9702189;9651585;11959865;12920132;12374985;11931768;10640275;10220385;9520398;10644367;15199122;15148359;15456747;15333839;15729358;11000236;9486654;11171972;21454521;14729951;17287852;17452459;17612494;17643391;17803295;21440557;21658281;14559996;14612411;16505006;16776654;16800816;16820529;17011572;17074803;19454010;20920219;20547842;17210713;19081374;19144721;19235719;19244234;20676127;14593184;14966270;15322089;15899845;16254079;16331260;16387653;16449650;16728974;17255935;17827154;18156491;18585351;19339282;19509248;19620290;19641626;20126307;20189936;9620779;9620804;11884454;12453419;12659862;16030350;16227606;16252006;18535655;10049357;10491605;10521394;10734189;10737769;11306568;11439334;11585818;11593411;11602581;11682623;14761981;15173382;15467731;15528196;15542849;15695521;15934135;18059533;18070604;18451802;9753732;15300592;23275444;20585571;20508642;16959795;17036045;22939629;16147992;20935208;21148318;21149449;21779366;9885572;17704768;22615490;12082111;18781797;20153263;21566081;21566083;21139048;21532573;21549307;21890473;21906983;22203677;21252943;16009940;21670149;21676866;21693630;21706058;17962807;22318730;22493095;22647378;22733735;22783022;19805454;21258344;23000965;16469706;19503603;22952844 25942 H3BMA2;H3BNA0;H3BNZ3;H3BP90;H3BQ76;H3BQ88;H3BQL7;H3BT34;Q96ST3 ABBA01060522;ABBA01060523;ABBA01060524;ABBA01060525;AC068338;AC105137;AF418569;AK027559;AK074800;AK074903;AK096477;AL117513;AL832463;AMYH01006814;AY044430;BC018973;BC030563;BC041047;BC052275;BC066364;BC137098;BC137099;BM676304;BX649162;CH471136;DB074084;NM_001145357;NM_001145358;NM_015477 AAH18973;AAI37099;AAI37100;AAK95854;AAP97288;BAB55197;BAC04801;BAC11280;BAG52005;CAB55972;EAW99249;EAW99250;EAW99251;NP_001138829;NP_001138830;NP_056292;Q96ST3 Hs.513039 1341052;1687327;1697018;1697908;1736536;2110739;2141922;5015861;7185938 D10S16;D11S1301;D15S735E;RH101985;RH102482;RH44902;RH91923;SIN3A_8019 DKFZp434K2235;FLJ90319;KIAA0700 OTTHUMP00000183517;OTTHUMP00000183518;SIN3 homolog A, transcription regulator;histone deacetylase complex subunit Sin3a;paired amphipathic helix protein Sin3a;transcriptional co-repressor Sin3A;transcriptional corepressor Sin3a;transcriptional regulator, SIN3A APPROVED protein-coding ENSG00000169375 19353 09690 607776 REVIEWED 733053 SIPA1L1 signal-induced proliferation-associated 1 like 1 14 14 14 q24.2 52059323 52269351 + 71065795 71275875 + 71996042 72206122 + 1580863;6480464 18029348;17081983;16999984;15588942;15302935;14702039;12508121;12477932;12421765;12168954;11502259;9858596;9455477;15778465;19615732;21076409;22939629;21139048;21906983;23000965;23251661;22017875 26037 F5GYF8;G3V4Z3;H0YJY2;J3KP19;O43166 AB007900;ABBA01030792;ABBA01030793;ABBA01030794;ABBA01030795;ABBA01030796;AC004900;AC004968;AC004974;AF090989;AF090990;AK094532;AK122930;AK302650;AMYH01005835;AMYH01005836;BC146777;CH471061;CR936651;JA130602;JA208946;NM_015556 AAC83179;AAD12543;AAD12544;AAI46778;BAA23712;BAG63889;CAI56789;CCA64007;CCA64575;EAW81058;EAW81059;EAW81060;NP_056371;O43166 Hs.654657 1645378;1645380;1649315;1653198;1656795;1670869;1672801;1673806;1673987;1685790;1695126;1695586;1740771;1783120;1857927;1858505;2109843;2112134;2119796;2122842;2136128;2136830;2139344;2141226;2147733;2154053;2158005;2159908;2161709;2169804;2174769;2178082;2182609;5017247 A002T06;A006E37;A006F03;A008U05;A009Q05;D14S1212;D14S1355;D14S855;D14S904;G20750;G35394;G35444;G36072;G38095;G38097;G38245;G38247;G38248;G38257;G38332;G38334;G48202;IB3513;NIB343;RH17953;RH69979;RH91755;SGC33553;SHGC-171445;SHGC-68945;SIPA1L1_9450;WI-13394;WI-15058;WI-21876 DKFZp686G1344;E6TP1;FLJ37213;KIAA0440 E6-targeted protein 1;H_DJ1140G11.1;OTTHUMP00000245734;OTTHUMP00000245735;OTTHUMP00000245736;OTTHUMP00000246397;SIPA1-like protein 1;WUGSC:H_DJ1140G11.1;high-risk human papilloma viruses E6 oncoproteins targeted protein 1;signal-induced proliferation-associated 1-like 1;signal-induced proliferation-associated 1-like protein 1;spa-1 like protein p1294 protein-coding ENSG00000197555 20284 11559 PROVISIONAL 1314792 SIPA1L2 signal-induced proliferation-associated 1 like 2 1 1 1 q42.2 205802459 205919973 - 230600334 230717866 - 232533711 232651243 - 1580863;6480464 16710414;15570572;15489334;15146197;14702039;12477932;10718198;8889548;20694011;20602751;20379614;21906983 57568 Q9P2F8 AB037810;ABBA01033061;ABBA01033062;AK022852;AK026779;AK074212;AK093191;AL157409;AL356965;AMYH01001823;AY168879;BC006013;BC013119;BC082251;BC150334;CB242802;CH471098;CN425351;NM_020808 AAH13119;AAH82251;AAI50335;AAO12530;BAA92627;BAB14273;BAC04090;EAW69971;EAW69972;NP_065859;Q9P2F8 Hs.268774 1764771;1781782;1851749;1853214;2107577;2113658;2133289 AB046038;D1S1770E;D1S2349;G35298;SHGC-148347;SHGC-155748;SIPA1L2__6836 FLJ23126;FLJ23632;KIAA1389;SPAL2 OTTHUMP00000035939;SIPA1-like protein 2;SPA-1-like 2;signal-induced proliferation-associated 1-like protein 2 protein-coding ENSG00000116991 23800 15346 611609 VALIDATED 736759 SIRPA signal-regulatory protein alpha The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008] 20 20 p13 1822813 1868540 + 1874813 1920540 + 1580863;6480464 9062191;22451913;9070220;16691243;19165527;18954403;18855618;18820737;18647419;18051954;17954568;17632076;17360380;17178844;17142753;17098740;17070842;16825188;16697668;16344560;16339511;16335952;16291597;16189514;15888547;15842360;15489334;15374953;15359629;14729615;14662855;12805067;12483539;12477932;11907074;11792697;11780052;11509594;10962556;10842184;10660565;10585853;10572074;10469599;10098842;9872987;9712903;9632768;9485180;9271230;17500595;22815949;8943344;8810330;8525433;10660620;20473329;20299253;20826801;20705613;19299420;19628875;19748659;19820697;19874234;20207740;20643654;21223598;21169408;21788504;21788509;21225905;21369691;20826546;22490440;21890473;21906983;22409853;22511785;21706016;23000965;23271705;22738830;22139419;22747997 140885 Q9H0Z2 AB023430;ABBA01053783;ABBA01053784;AK290776;AK298243;AK312521;AL034562;AL117335;AMYH01011666;BC026692;BC033092;BC038510;BC075849;CH471133;D86043;DA471662;DN989886;NM_001040022;NM_001040023;NM_080792;U06681;U06701;Y10375;Y11047 AAH26692;AAH33092;AAH38510;AAH75849;ABM82577;BAA12974;BAA87929;BAF83465;BAG35420;BAG60509;CAA71403;CAA71944;EAX10606;EAX10607;EAX10608;EAX10609;EAX10610;EAX10611;NP_001035111;NP_001035112;NP_542970;P78324 Hs.581021 1677020;1771430;1798048;2111204;2124348;2133780;2135232;2141127;2155476;2175578;2181049;2184943 BCD2069;D20S1066;D20S203E;D20S793;G18068;PTPNS1_1575;RH11752;RH68309;SHGC-31938;STS-D29515;STS-M78966;WI-14028 BIT;CD172A;MFR;MYD-1;P84;PTPNS1;SHPS-1;SHPS1;SIRP;SIRP-ALPHA-1;SIRPalpha;SIRPalpha2 CD172 antigen-like family member A;OTTHUMP00000030001;OTTHUMP00000159968;OTTHUMP00000159969;brain-immunoglobulin-like molecule with tyrosine-based activation motifs;inhibitory receptor SHPS-1;macrophage fusion receptor;myd-1 antigen;protein tyrosine phosphatase, non-receptor type substrate 1;tyrosine phosphatase SHP substrate 1;tyrosine-protein phosphatase non-receptor type substrate 1 APPROVED protein-coding ENSG00000198053 9662 03912 602461 REVIEWED 1347883 SIRPB1 signal-regulatory protein beta 1 The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 20 20 20 p13 1641380 1664813 - 1493029 1548689 - 1545029 1600689 - 1580863;6480464 9062191;19165527;19034380;16344560;16339511;16335952;16081415;15489334;15342556;12477932;12415263;11780052;10940905;10604985;19893026;17207965;12213963;22360420;21890473 10326 H3BQ21;H3BRP9;H3BSK5;H3BTT9;H3BU43;H3BUW0;H9KV29;O00241;Q5TFQ8 ABBA01169430;AK130124;AK289866;AL049634;AL138804;AL592544;AMYH01011663;AMYH01011664;AMYH01011665;BC025286;BC075835;BC131747;BM010247;BM285386;BP268958;BP295274;BX537992;CH471133;DA331023;DA463753;DA761891;NM_001083910;NM_001135844;NM_006065;Y10376 AAH25286;AAH75835;AAI31748;AAI56610;ADQ32572;BAF82555;CAA71404;CAD97951;EAX10620;EAX10621;EAX10622;NP_001077379;NP_001129316;NP_006056;O00241;Q5TFQ8 Hs.664861 2107581;5037552 D8S2279;SIRPB1__6838 CD172b;DKFZp686A05192;FLJ26614;SIRP-BETA-1 CD172 antigen-like family member B;OTTHUMP00000029992;OTTHUMP00000029993;OTTHUMP00000029994;signal-regulatory protein beta-1 APPROVED protein-coding ENSG00000101307 15928 04866 603889 REVIEWED 1353362 SIRPD signal-regulatory protein delta 20 20 20 p13 1611254 1634702 - 1462897 1486343 - 1514897 1538343 - 6480464 16339511;15489334;14702039;12477932;11780052;16344560;21044950 128646 H0Y747;Q5TFQ5;Q9H106 ABBA01053771;ABBA01053772;AK093083;AL049634;AMYH01011663;BC033502;CH471133;DA466740;NM_178460 AAH33502;ABM82223;ABW03378;BAG52650;EAX10623;EAX10624;NP_848555;Q9H106 Hs.729560 1698224 RH102648 PTPNS1L2;dJ576H24.4 OTTHUMP00000029990;OTTHUMP00000029991;SIRP-delta;protein tyrosine phosphatase non-receptor type substrate 1-like 2;protein tyrosine phosphatase, non-receptor type substrate 1-like 2;signal-regulatory protein delta protein-coding ENSG00000125900 16248 17931 VALIDATED 1604807 SIRPG signal-regulatory protein gamma The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 20 20 20 p13 1673922 1702555 - 1557798 1586425 - 1609798 1638425 - 15383453;9062191;16691243;18524990;16344560;16339511;15489334;15294972;12477932;11780052;11185750;17207965;19430480;19473566;21890473 55423 Q9P1W8 AA446468;AB042624;ABBA01053780;ABBA01053781;AK124224;AK292745;AL109809;AL138804;AMYH01011665;AY748247;AY748248;BC020629;BC064532;CH471133;DA008008;DB046293;NM_001039508;NM_018556;NM_080816 AAH20629;AAH64532;AAV88530;AAV88531;ADQ32580;BAA95692;BAF85434;EAX10615;EAX10616;EAX10617;EAX10618;NP_001034597;NP_061026;NP_543006;Q9P1W8 Hs.590883 1681979;2160583;2219692 RH94120;SHGC-56794;SIRPB2__5422 CD172g;FLJ42230;SIRP-B2;SIRPB2;SIRPgamma;bA77C3.1 CD172 antigen-like family member B;CD172g antigen;OTTHUMP00000029998;OTTHUMP00000029999;OTTHUMP00000030000;OTTHUMP00000185041;SIRP beta 2;SIRP-beta-2;SIRP-gamma;signal-regulatory protein beta 2;signal-regulatory protein beta-2;signal-regulatory protein gamma APPROVED protein-coding ENSG00000089012 15757 605466 REVIEWED 1318106 SIRT3 sirtuin 3 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.5 205030 226362 - 215030 236362 - 6480464 19209188;10381378;18781224;19343720;19367319;19240061;18215119;17957139;17437997;17059877;16189514;15676284;15489334;12477932;12374852;18710944;18680753;12186850;11056054;10873683;8889548;22585829;21460842;20463968;20661474;16079181;16169070;16788062;17456799;19535340;19680556;19714312;20129246;20132432;20159966;20198340;20800603;20819778;20877624;22416140;22326535;20945913;15719057;21397863;21358671;21449565;21566644;23075334;17715127;21701047;22318606;22589271;21840382;22155639;22609775;22770219;23139766;23272146;23045395;22595756;22674009;22750084;23046812 23410 B7WNN4;E9PIT6;E9PJS6;E9PK80;E9PM52;E9PM75;E9PN58;E9PNA0;E9PR48;Q9NTG7 AA279020;ABBA01011167;AC069287;AC136475;AF015416;AF083108;AI091200;AK074992;AK298572;AK299009;AK299438;AK301558;AK301979;AK308681;AK316175;AL137276;AL535769;AMYH01003275;BC001042;BI755839;BM709066;BM973763;CH471278;CS330056;CS330058;CS417199;CS545590;DR762907;NM_001017524;NM_012239;U73637 AAD40851;AAH01042;BAH12816;BAH12927;BAH13032;BAH13513;BAH13600;BAH14546;CAB70674;CAL00156;CAL00157;CAL48199;CAN36293;EAW61239;EAW61240;EAW61241;EAW61242;EAW61243;NP_001017524;NP_036371;Q9NTG7 Hs.716456 1737209;1851947;2108913;2150177;2161358;2163291;2169199;2169201 A001U35;A004P12;D11S3074;G19667;RH15952;RH78086;SIRT3_3197.2;WI-19967 SIR2L3 NAD-dependent deacetylase sirtuin-3, mitochondrial;NAD-dependent protein deacetylase sirtuin-3, mitochondrial;OTTHUMP00000147616;OTTHUMP00000230525;OTTHUMP00000230526;OTTHUMP00000230527;OTTHUMP00000230528;SIR2-like protein 3;hSIRT3;mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase;regulatory protein SIR2 homolog 3;silent mating type information regulation 2, S.cerevisiae, homolog 3;sir2-like 3;sirtuin;sirtuin type 3 APPROVED protein-coding ENSG00000142082 14931 06836 604481 VALIDATED 1321303 SIRT4 sirtuin 4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008] 12 12 12 q 120373255 120384162 + 119224546 119235428 + 120740124 120751045 + 6480464 15342556;16959573;10381378;19209188;17715127;16541075;15489334;15122253;12477932;10873683;9847074;16079181;17456799;23044393;21556116;22770219;23663782;23045395 23409 F5H4X9;Q9Y6E7 ABBA01020107;ABBA01020108;AC003982;AF083109;AMYH01004799;BC034736;BC109319;BC109320;BP232525;CH471054;CS330060;CS417201;CS545592;NM_012240 AAB95634;AAD40852;AAI09320;AAI09321;CAL00158;CAL48200;CAN36294;EAW98182;EAW98183;NP_036372;Q9Y6E7 Hs.50861 1685013 RH46443 MGC130046;MGC130047;MGC57437;SIR2L4 NAD-dependent ADP-ribosyltransferase sirtuin-4;NAD-dependent protein deacetylase sirtuin-4;OTTHUMP00000239957;SIR2-like protein 4;regulatory protein SIR2 homolog 4;sir2-like 4;sirtuin;sirtuin type 4 APPROVED protein-coding ENSG00000089163 14932 06837 604482 REVIEWED 733995 SIRT2 sirtuin 2 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010] 19 19 q13 44061040 44082201 - 39369195 39390502 - 6480464 16344560;17456799;12697818;12887892;12620231;15126506;11427894;10381378;19282667;18995842;18722353;18332217;18249187;18249170;17708669;17516032;16909107;16648462;16565078;16247014;16211212;15489334;15328540;15274642;15213244;14702039;12963026;12477932;11812793;11483616;10931946;10873683;10393250;9110174;8619474;8125298;22089141;22318606;17353931;16079181;17172643;17726514;20159555;20378838;22819792;22833565;23468428;20237298;20543840;14522900;19801601;15220471;15719057;18193082;20562129;22857867;22944623;20849899;21349544;21726808;21511279;21890473;22166219;22302938;22014574;23000965;23358244;23475622;22053931;22735931 22933 B5MCS1;C9J3U7;C9JR33;C9JZQ0;E7EWX6;F8WBT6;F8WCF4;F8WDM4;F8WF57;Q8IXJ6 AB009274;ABBA01040708;ABBA01040709;AC011455;AF083107;AF095714;AF131800;AF160214;AJ505014;AK025876;AK054642;AK092940;AK094810;AK131390;AK225824;AK290716;AK314492;AMYH01009789;AY030277;BC003012;BC003547;BF346568;BF529906;CH471126;CS072425;CS330052;CS330054;CS417195;CS417197;CS545586;CS545588;DA541045;DA705079;NM_001193286;NM_012237;NM_030593;NR_034146 AAD20046;AAD40850;AAD45971;AAF67015;AAH03012;AAH03547;AAK51133;ABZ92537;BAF76655;BAF83405;BAG37092;CAD43717;CAI93563;CAL00154;CAL00155;CAL48197;CAL48198;CAN36291;CAN36292;EAW56833;EAW56834;EAW56835;EAW56836;EAW56837;EAW56838;NP_001180215;NP_036369;NP_085096;Q8IXJ6 Hs.466693 1664236;1734604;1734702;5014063;5015404;5016478;5016781;5017266;5020881;5020946;5020948;5022322;5022450;5109281;5118444 D10S275;D11S2560;D11S3316;D15S1390;D19S613E;D19S697E;D1S1425;G35510;GDB:434012;L17705;L17709;L17971;L18506;SHGC-67307;WIAF-1625 FLJ35621;FLJ37491;SIR2;SIR2L;SIR2L2 NAD-dependent deacetylase sirtuin-2;NAD-dependent protein deacetylase sirtuin-2;OTTHUMP00000197460;OTTHUMP00000197461;OTTHUMP00000197465;SIR2-like protein 2;regulatory protein SIR2 homolog 2;silencing information regulator 2-like;silent information regulator 2;sir2-related protein type 2;sirtuin;sirtuin 2 (silent mating type information regulation 2, homolog) 2 (s. cerevisiae);sirtuin type 2 APPROVED protein-coding ENSG00000068903 10886 10377 604480 REVIEWED 1318374 SIRT1 sirtuin 1 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 q21.3 69314433 69348149 + 69644427 69678147 + 1580423;2316155;6480464;6484113 15486319;19450511 20812964;20978007;18329615;15780941;21289058;21527554;21555002;17456799;16959573;18203716;15469825;11672523;17317627;12006491;18029348;19643082;19555662;19498162;19404850;19364925;19343720;19286634;19285077;19236849;19229036;19188449;19167483;19166820;19149601;19132007;19104446;19075016;19071085;19060927;19017485;19014491;19008647;18977241;18957417;18850005;18838864;18835033;18834855;18829956;18821472;18820948;18774777;18755897;18724249;18723829;18704159;18689793;18687677;18660489;18636124;18573234;18563176;18556572;18485895;18482975;18438697;18414679;22510409;21987377;18296641;18235502;18235501;18230337;18184747;18174544;17996922;17964266;17937892;17934453;17916362;17901049;17895433;17806102;17785417;17680780;17638871;17624472;17612497;17601350;17581637;17516504;17505061;17373700;17334224;17283066;17213307;17180656;17112576;17099246;17081983;17041012;16998810;16964243;16923962;16892051;16751189;16628003;16354677;16344560;16328012;16288004;16257164;16207712;16183991;16166628;15749705;15719057;15692560;15640142;15639232;15632193;15489334;15302935;15205477;15164054;15152190;15126506;14980222;14976264;14702039;12939617;12930829;12535671;12477932;12413881;12297502;11672522;11230166;10873683;10381378;17936707;20375098;21471201;21813271;21972126;22013015;22318606;22328728;22446626;15175761;22178470;22333659;22640743;21118843;17487425;21212262;20160399;20631301;20633545;21504832;20555380;21474819;16998474;18823944;18829436;18922603;19491102;19553684;20977650;19267881;20506278;20668706;20733005;19218236;19244234;19934257;20702418;20817729;20668205;20670893;19322201;21698133;21713995;21720722;22137654;22378745;22389628;20941378;21130087;20225204;20488443;20689156;20972425;20421294;20439735;20217115;20813124;20493163;20412117;20448046;20617556;20620956;16154098;20033348;20819794;20627091;20157519;20463039;20479254;15744310;16079181;16269335;16385451;17172643;18485871;18662546;18662547;19220062;19289152;19376817;19377286;19430421;19433578;19478080;19509139;19578370;19581416;19615732;19649206;19680556;19690166;19713122;19714620;19716821;19720090;19741164;19786632;19819989;19887452;19895790;19923004;19934264;19995796;19996091;20027304;20041875;20060806;20068143;20071779;20089851;20100829;20102704;20103737;20107110;20131294;20167603;20203304;20335544;20379614;20451257;20503258;22152608;22789853;22867969;18004385;21067862;20693263;20955178;20966076;21056897;21144831;18681908;21832856;21968188;22219708;22586264;20431927;20484414;20426787;19047049;21241768;20956937;21149449;21163946;21337390;21098725;21329659;15684044;18193082;21149730;20803525;21108727;21277951;21454709;20844277;21245135;21245319;22683888;22824213;23024800;22683003;22863883;22935421;22990118;21074897;22885181;23050959;21414717;21501079;21345792;21176092;19568959;21505241;21703114;21778425;21543634;21556116;21596753;21700104;21882241;21915620;22157007;22190494;21701047;21775285;17098745;21390332;21533107;19883617;20595232;20869593;21331741;20360068;21030595;21349544;21502975;21502801;23079621;23209300;23257246;21719763;22893703;23075334;22272724;22674476;22939629;21920899;21567102;21697093;22050448;22159506;22198152;22200427;22266962;22330808;22340598;22385246;21604001;22000456;22133824;22169038;21789216;21947282;22017869;21807113;21810449;22073865;21865267;22228742;22465953;22230810;22038097;22833338;23395904;21963094;22094255;22094256;22902626;23137540;21760635;22306819;22312127;22308024;21746786;21852339;22149272;22207735;22364258;21139048;21555454;21636977;21745208;21871827;21890473;21906983;22124156;22157016;22197555;22249256;22479397;22493485;22552445;22564731;22584570;22613205;22302044;22542455;22245592;22363646;22146883;22553202;22554968;22689577;22700961;22696478;22995302;23045412;23238746;22448750;23224247;22836009;22410779;22980663;23143889;22902550;23070058;23390957;22735644;23449222;22661383;23255128;23332867;23349863;23475622;22121772;23038275;23133645;23169992;22537175;23450480;22628222;23248098;23305113;23365135;23370328;23267107;23417673;23474493;18342601;18344999;18800364;19664641;20042607;21956116;22190034;22703651;22728651;22773876;22780949;22807441;23056314;23178529;23276927;22322739;22406815;22590959;22732402;22740055;22986747;23382074 23411 A8K128;B0QZ35;E9PC49;Q96EB6 AA452304;ABBA01019551;ABBA01019552;ABBA01019553;AF083106;AF235040;AK027686;AK074805;AK289743;AL133551;AL136741;AMYH01002796;BC012499;BX648554;CH471083;CS330050;CS417193;CS545584;DB162635;DQ278604;GM718527;JQ768366;NM_001142498;NM_012238 AAD40849;AAG38486;AAH12499;ABB72675;AFI98394;BAF82432;BAG51365;BAG52006;CAL00153;CAL48196;CAN36290;CAV28860;EAW54258;EAW54259;NP_001135970;NP_036370;Q96EB6 Hs.369779 1796766;1849721;2118880 RH66167;SIRT1_1810;STS-H98832 SIR2L1 NAD-dependent deacetylase sirtuin-1;NAD-dependent protein deacetylase sirtuin-1;OTTHUMP00000019691;OTTHUMP00000198111;OTTHUMP00000198112;SIR2-like protein 1;SIR2alpha;hSIR2;hSIRT1;regulatory protein SIR2 homolog 1;sir2-like 1;sirtuin;sirtuin type 1 APPROVED protein-coding ENSG00000096717 14929 08381 604479 REVIEWED 1351920 SIRT5 sirtuin 5 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010] 6 6 p23 13682812 13720500 + 13574761 13615390 + 6480464 14574404;11076863;16712791;10381378;18680753;16827919;16484774;16381901;15489336;15489334;14702039;12477932;22767592;22585829;10873683;11256614;16079181;17456799;19135889;18029348;20800603;20877624;21139048;21555454;21908771;21143562;21832049;23028781;22076378;17715127;20887790;22318606;23475622 23408 Q7Z3A0;Q9NXA8 ABBA01022128;AF083110;AI969140;AJ420496;AK000355;AK094269;AK294162;AK302467;AL441883;AMYH01016095;BC000126;BC035122;BC035196;BX538030;CA406695;CB155518;CH471087;CS330062;CS330064;CS417203;CS417205;CS545594;CS545596;DC314190;DR003695;NM_001193267;NM_001242827;NM_012241;NM_031244 AAD40853;AAH00126;BAA91107;BAG57485;BAG63757;CAD97975;CAL00159;CAL00160;CAL38292;CAL48201;CAL48202;CAN36295;CAN36296;EAW55332;EAW55333;EAW55334;EAW55335;EAW55336;EAW55337;EAW55338;NP_001180196;NP_001229756;NP_036373;NP_112534;Q9NXA8 Hs.567431;Hs.594133 1655819;1672176;1699012;1785988;2174143;2217976;5014019;5037552 D5S2354;D8S2279;RH103078;RH46758;SHGC-154505;SIRT5_823;WI-14668;WI-14994 FLJ36950;SIR2L5 NAD-dependent deacetylase sirtuin-5;NAD-dependent lysine demalonylase and desuccinylase sirtuin-5, mitochondrial;NAD-dependent protein deacylase sirtuin-5, mitochondrial;OTTHUMP00000016054;OTTHUMP00000016055;SIR2-like protein 5;regulatory protein SIR2 homolog 5;silent mating type information regulation 2, S.cerevisiae, homolog 5;sir2-like 5;sirtuin;sirtuin type 5 APPROVED protein-coding ENSG00000124523 14933 06838 604483 REVIEWED 1314170 SIRT7 sirtuin 7 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008] 17 17 q25 77463107 77469332 - 79869815 79876058 - 1580863;6480464 20375098;19174463;17003781;16618798;16525639;15489334;14702039;12477932;12454780;11953824;10873683;16169070;9776767;16079181;21832049;22147730;22722849;22586326;23079745 51547 I3L2A4;I3L480;Q9NRC8 ABBA01019653;AC145207;AF233395;AK002027;AK094326;AK131437;AK131484;AK290265;AL137626;AMYH01008723;BC017305;BC101791;BC101793;BQ890203;CD579273;CH471099;CS330068;CS417209;CS545600;NM_016538 AAF43431;AAH17305;AAI01792;AAI01794;ABM83280;ABM86487;BAA92044;BAF82954;BAG52860;CAB70848;CAL00162;CAL48204;CAN36298;EAW89713;NP_057622;Q9NRC8 Hs.514636 1796770;2136473;5037552 D8S2279;RH65676;SIRT7_1731 MGC126840;MGC126842;SIR2L7 NAD-dependent deacetylase sirtuin-7;NAD-dependent protein deacetylase sirtuin-7;SIR2-like protein 7;regulatory protein SIR2 homolog 7;silent mating type information regulation 2, S.cerevisiae, homolog 7;sir2-related protein type 7;sirtuin;sirtuin type 7 APPROVED protein-coding ENSG00000187531 14935 12094 606212 REVIEWED 1313110 SIRT6 sirtuin 6 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 19 19 p13.3 4125106 4133596 - 4174106 4182596 - 6480464 17456799;19135889;18388907;18337721;18242175;16189514;16169070;15489334;15057824;14702039;12477932;10873683;8125298;21224216;16079181;19625767;20157594;20829486;15719057;17131381;20375098;23086953;23132960;23217706;22939629;23041974;21362626;21680843;21349544;21502801;21847107;22087257;21981042;23075334;21890473;21900206;21900744;21906983;22700961;22753495;22770219;23136298;23552949;22505724;22743824;22792191 51548 B4DDV3;M0QXA0;M0QZ09;M0R0B2;M0R1F6;M0R1N9;Q9NRC7 ABBA01056083;ABBA01056084;AC005620;AC006930;AC016586;AF233396;AK074810;AK225567;AK293348;AK299420;AK301247;AK315048;AMYH01009328;BC004218;BC005026;BC028220;CH471139;CR457200;CS330066;NM_001193285;NM_016539 AAC34468;AAD15478;AAF43432;AAH04218;AAH05026;AAH28220;ABM87357;ABW03864;BAC11222;BAG37527;BAG56864;BAG62814;BAH13027;CAG33481;CAL00161;EAW69251;EAW69252;EAW69253;EAW69254;EAW69255;EAW69256;EAW69257;EAW69258;EAW69259;NP_001180214;NP_057623;Q8N6T7 Hs.423756 1675646;1796768 RH93156;SIRT6_244 SIR2L6 NAD-dependent deacetylase sirtuin-6;NAD-dependent protein deacetylase sirtuin-6;SIR2-like protein 6;regulatory protein SIR2 homolog 6;sir2-related protein type 6;sirtuin;sirtuin type 6 APPROVED protein-coding ENSG00000077463 14934 12093 606211 REVIEWED 6482993 SIX3-AS1 SIX3 antisense RNA 1 2 p21 45167293 45169017 - 8889548 100506108 ABBA01075118;AC012354;AMYH01010306;BM663835;BM690547;NR_103785;NR_103786;XR_109979;XR_109980;XR_112315;XR_112316;XR_171291 Hs.503113 1684016;2189527 RH143896;RH94877 APPROVED miscrna 40532 VALIDATED 1601761 SIT1 signaling threshold regulating transmembrane adaptor 1 9 9 9 p13-p12 35582849 35584501 - 35639295 35640947 - 35649295 35650947 - 6480464 15489334;7566098;11433379;10209036;19204726;16160011;16094384;15592455;15570572;15164053;15144186;12477932;11491537;11390434;21957439;18029348;22505724 27240 Q9Y3P8 AA310964;AA746595;ABBA01064988;ABBA01064989;AJ010059;AJ271888;AK314758;AL357874;AMYH01019347;BC102029;BC104491;BC107484;BM919490;CH471071;JQ924063;NM_014450 AAI02030;AAI04492;AAI07485;AFK32776;BAG37296;CAB41504;CAC81313;EAW58370;NP_055265;Q9Y3P8 Hs.88012 2107583;5493621 SIT__6839;UniSTS:489845 MGC125908;MGC125909;MGC125910;RP11-331F9.5;SIT;SIT-R OTTHUMP00000021333;SHP-2 interacting transmembrane adaptor protein;SHP2 interacting transmembrane adaptor;SHP2-interacting transmembrane adapter protein;SHP2-interacting transmembrane adaptor protein;gp30/40;signaling threshold-regulating transmembrane adapter 1;suppression inducing transmembrane adaptor 1;suppression-inducing transmembrane adapter 1 protein-coding ENSG00000137078 17710 05394 604964 VALIDATED 1321897 SIX2 SIX homeobox 2 This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008] 2 2 2 p21 45070945 45075163 - 45085847 45090026 - 45232324 45236542 - 1580863;6480464 10773454;22703800;19055944;18989625;18305125;12477932;12441302;12215533;11734542;10677303;8814301;20542577;21832049;21909109 10736 Q8TBA2;Q9NPC8 ABBA01075121;AC012354;AC093702;AF136939;AF136940;AF323498;AF332196;AF332197;AF332198;AI299144;AI697804;AMYH01010307;BC024033;BT020100;CH471053;NG_009360;NM_016932 AAF69031;AAF69032;AAH24033;AAK06773;AAK16581;AAK16582;AAK16583;AAV38903;EAX00265;NP_058628;Q9NPC8 Hs.101937 1798156 SIX2_2180 OTTHUMP00000201649;homeobox protein SIX2;sine oculis homeobox homolog 2 APPROVED protein-coding ENSG00000170577 10888 05408 604994 REVIEWED 1346541 SJS1 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) 7240710 8541852;9279765 347680 10893 224410;255800 731648 SIX1 SIX homeobox 1 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008] 14 14 q23.1 60182506 60185933 - 61111417 61116155 - 1580863;6480464;7240710 9770533;22447252;16189514;8617500;18029348;19331807;19101580;18666230;18398830;18381426;18330911;17637804;17519359;17130831;17008870;16670092;16652090;15489334;15226428;15141091;15123840;14628042;12874121;12843324;12477932;12441302;12215533;12057921;11734542;10906137;10801845;10777717;7720577;22466647;20013809;20395239;20603620;15492887;19497856;19726883;19726885;19901965;20548946;19008232;21370601;21280147;22286765;22840486;21427129;21700001;21988832;22286770;22190591;22570617;21874375;22180226;21706047;22419738;20301554;20301607;23435380 6495 G3V300;H0YK85;Q15475 ABBA01018285;AF323497;AL049874;AMYH01005769;BC008874;BT007083;CH471061;CS025630;NG_008231;NM_005982;X91868 AAH08874;AAK06772;AAP35746;CAA62974;CAI61692;EAW80784;EAW80785;NP_005973;Q15475 Hs.633506 1335355;1647504;1703272;2153803;7187881 D14S290;RH106538;RH70939;RH78873 BOS3;DFNA23;TIP39 OTTHUMP00000179042;homeobox protein SIX1;sine oculis homeobox homolog 1 APPROVED protein-coding 10887 03125 601205;605192;608389 REVIEWED 733474 SIX3 SIX homeobox 3 This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009] 2 2 p21 45022541 45025894 + 45169037 45173216 + 1599335;1599336;1580863;6480464;7240710 15523651;10369266 19353631;19346217;18836447;18791198;17666527;17576749;16323008;15635066;15221788;14973488;12543801;12477932;12441302;12050133;11554737;11173923;11069920;10490620;10415461;9889003;1887845;20634891;20531442;12107413;19921650;20057906;20157829;20201926;8889548;20682799;21940735;21909109;22488850;22310223;20301552;20301702 6496 O95343;Q9NSJ2 ABBA01075117;ABBA01075118;ABBA01075119;AC012354;AF049339;AF083891;AF092047;AJ012611;AL162671;AMYH01010306;BC030289;BF569811;BF570321;BM668514;CD673488;CH471053;EL952320;NG_016222;NM_005413 AAD11939;AAD15753;AAD51091;AAH30289;AAI53027;AAX93283;CAB42539;CAB83141;EAX00267;EAX00268;NP_005404;O95343 Hs.567336 1684016;1789112;1789558;2189527 D2S4014;G65690;RH143896;RH94877 HPE2 OTTHUMP00000201650;homeobox protein SIX3;sine oculis homeobox homolog 3 APPROVED protein-coding ENSG00000138083 10889 04756 157170;269160;603714 REVIEWED 1351570 SKA2P1 spindle and kinetochore associated complex subunit 2 pseudogene 1 9 9 9 q33.2 96172444 96173250 + 124563946 124564769 + 125524129 125524935 + 15164053 729012 ABBA01043717;AC006313;AMYH01021694;NG_027505 Em:AC006313.1;FAM33B;SKA2L family with sequence similarity 33, member B;spindle and kinetochore associated complex subunit 2-like APPROVED pseudo 23122 INFERRED 1603317 SIVA1 SIVA1, apoptosis-inducing factor This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Jul 2008] 14 14 q32.33 104290515 104297041 + 105219470 105225996 + 6480464 9177220;12011449;14739602;16683188;19392652;18849585;18330885;17965021;17653867;17348035;16491128;15958577;15489334;15105421;15034012;12478477;12477932;11920585;11601913;11278261;10756043;8125298;20727854;16169070;19293149;19590512;17207965;20934406;21048035;21832049;22343716;21768358;21955384;19584092;21628590;19953087;21890473;21906983;21963094;21988832;23462994;22505724 10572 G3V3U1;G3V439;H0YJN1;O15304 ABBA01002986;AF033111;AF401214;AK223332;AK300415;AK316550;AL583722;AMYH01006063;BC034562;BK000018;BU195069;CH471061;CK001877;NG_029449;NM_006427;NM_021709 AAD50057;AAH34562;AAL02171;ADQ32443;BAD97052;BAG62144;BAG65628;DAA01049;EAW81877;EAW81878;EAW81879;EAW81880;NP_006418;NP_068355;O15304 Hs.112058 CD27BP;SIVA;Siva-1;Siva-2 CD27-binding (Siva) protein;CD27-binding protein;OTTHUMP00000244488;OTTHUMP00000244489;OTTHUMP00000244490;OTTHUMP00000244492;apoptosis regulatory protein Siva APPROVED protein-coding ENSG00000184990 17712 16124 605567 REVIEWED 1321886 SKA1 spindle and kinetochore associated complex subunit 1 18 18 18 q21.1 44757915 44777060 + 46155390 46174536 + 47901392 47920538 + 737633;6480464 12477932 19289083;17093495;16189514;15561729;15489334;15146197;23085020;18029348;19156129;22483620;19322201;22371557 220134 K7EP61;K7EPW0;Q96BD8 ABBA01018670;AC013759;AC105227;AK303464;AK313968;AMYH01008998;BC005972;BC015606;BC015706;BG493245;BM470268;BQ069178;BU659790;BX956145;CH471096;CN403719;NM_001039535;NM_145060 AAH15706;BAG36683;BAG64506;EAW62971;EAW62972;EAW62973;NP_001034624;NP_659497;Q96BD8 Hs.134726 1856958;5016478;5022578;5022651;5037552 D11S2921;D18S1311;D1S1423;D8S2279;GDB:434012 C18orf24;MGC10200 OTTHUMP00000163540;spindle and KT (kinetochore) associated 1;spindle and kinetochore-associated protein 1 protein-coding ENSG00000154839 28109 12689 VALIDATED 1315508 SIX4 SIX homeobox 4 This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010] 14 14 14 q23 41226507 41241110 - 60246009 60260545 - 61176256 61190852 - 1580863;6480464 10640827;15489334;12477932;10512683;8628654;10490620;12215533;10906137;12441302;22939629;19471022;21693764 51804 G3V2N2;G3V416;Q9UIU6 AA424469;AB024687;ABBA01018289;ABBA01018290;AF032107;AK308528;AK309358;AL132777;AMYH01005770;BC098135;BC098282;BC099722;BC101934;CH471061;NG_021182;NM_017420 AAF04403;AAH98135;AAH98282;AAH99722;AAI01935;ABZ92148;ABZ92373;BAA86223;EAW80786;NP_059116;Q9UIU6 Hs.690393;Hs.97849 1677720;1699528;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;L18426;RH103360;RH93867 AREC3;MGC119450;MGC119452;MGC119453 OTTHUMP00000028070;homeobox protein SIX4;sine oculis homeobox homolog 4 APPROVED protein-coding ENSG00000100625 10890 06960 606342 REVIEWED 1321431 SIX6 SIX homeobox 6 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] 14 14 14 q23.1 41026094 41028681 + 60045775 60048278 + 60975938 60978525 + 1580863;6480464;7240710 10512683;18029348;18293925;15505031;15266624;12477932;12441302;11493467;10381575;18666230;20057906;20211142;22570617;22419738;20301477;20301552;20881960;23396134;22505724 4990 O95475;Q6P051 AB041399;ABBA01018282;AF031648;AF141651;AJ011785;AL049874;AMYH01005766;BC065831;BC069413;BC087852;CH471061;NG_008203;NM_007374 AAD49844;AAF04402;AAH65831;AAH69413;AAH87852;ABZ92173;BAA94484;CAA09773;EAW80782;NP_031400;O95475 Hs.194756 1679846;1727061 G62930;RH106539 MCOPCT2;OPTX2;Six9 OTTHUMP00000179043;homeobox protein SIX6;homeodomain protein OPTX2;optic homeobox 2;sine oculis homeobox homolog 6 APPROVED protein-coding 10892 07557 212550;606326 REVIEWED 1342955 SKI v-ski avian sarcoma viral oncogene homolog This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009] 1 1 p36.33 2149994 2229316 + 2160134 2241652 + 1580863;6480464;6484113;7240710 21600873;14525983;15621726;10549282;11121043;19341714;19112531;19096149;19049980;19032343;18782659;18508800;18451154;18261624;17621263;17592292;17469184;17054724;16710414;16424870;16327884;16054854;15806149;15542823;15312649;15231748;15128733;15122324;15107821;14712482;14583455;12874272;12857746;12793438;12764135;12435627;12419246;12034730;11719430;11522815;11441023;11430826;10823891;10575014;10485843;9927733;9569025;9380514;8514802;8233802;3026737;2762147;11278756;10531062;15761153;21107877;19959502;20691163;20572854;20634891;20672350;14699069;16987993;17510063;19008232;19546161;19594546;19845874;19875456;20959473;20404506;12732634;20624875;21149449;14761981;9988677;11306568;23103230;21466664;16959829;20853076;21685371;12426322;21906983;22227247;22229264;21795712;22194822;22411991;17283070;20301454;22853316;10049357;12154125;22984993;23023332;23382691;23530056;18729074 6497 P12755;Q7Z462 ABBA01016089;ABBA01016090;ABBA01016091;ABBA01016092;AK309515;AL590822;AMYH01000171;AY331180;AY334557;AY338687;CH471183;NG_013084;NM_003036;X15218 AAI56045;AAI57083;AAP94890;AAP97864;AAQ16119;CAA33288;EAW56117;EAW56118;NP_003027;P12755 Hs.656507 1650897;1686486;1706850;1766385;2115962 D1S2515;RH79610;SHGC-149729;SHGC-31449;SHGC-80908 SGS;SKV C-ski;OTTHUMP00000001507;proto-oncogene c-Ski;ski oncogene;ski oncoprotein 2292936;2293000 PRSTS117_H;PRSTS118_H APPROVED protein-coding ENSG00000157933 10896 01271 164780;182212 REVIEWED 1316064 SKA2 spindle and kinetochore associated complex subunit 2 17 17 17 q22 53649948 53695816 - 54542090 54587582 - 57187308 57232800 - 737633;6480464 12477932 19289083;17093495;18583474;16344560;15489334;14702039;17207965;20470754;19156129;22483620;22371557 348235 J3KRW9;J3KRZ0;J3KSP0;J3KTC5;J3QKN8;J3QL03;J3QS74;Q8WVK7 ABBA01041360;ABBA01041361;ABBA01041362;ABBA01041363;ABBA01041364;AC099850;AK022820;AK056473;AMYH01008517;BC017873;BC106003;BQ019350;CH471109;DA133216;DB158057;FJ648812;NM_001100595;NM_182620 AAH17873;AAI06004;ACN41865;ADQ32261;BAG51725;EAW94420;EAW94421;EAW94422;EAW94423;NP_001094065;NP_872426;Q8WVK7 Hs.463607 1655570;1672103;1691754;1698860 G42225;RH102995;RH78002;WI-10139 FAM33A;FLJ12758;MGC110975 family with sequence similarity 33, member A;spindle and KT (kinetochore) associated 2;spindle and kinetochore-associated protein 2 protein-coding ENSG00000182628 28006 13306 VALIDATED 1312832 SIX5 SIX homeobox 5 The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009] 19 19 q13.32 50959884 50964152 - 46268043 46272497 - 1580863;6480464;7240710 22447252;16713569;17357085;15489334;14702039;12500905;12477932;11978764;10823141;10756185;10490620;9949207;9817928;9241282;8595416;11748221;19851296;20198315;21280147;22939629;18029348;20301554 147912 H0YLF6;H0YLK1;Q8N196 ABBA01040951;ABBA01040952;AC074212;AK074826;AL540911;AMYH01009855;BC033204;BC084563;BU859227;CH471126;NG_012745;NM_175875;X84813 AAH33204;AAI56209;AAI56984;EAW57379;NP_787071;Q8N196 Hs.43314 1729720;1730748;1741875;1741911;1745933;1791340;2130939;2132053;2157112 D19S201;D19S261;G15898;G64289;GDB:186209;GDB:186796;PMC104374P1;RH11440;STS-N23083 BOR2;DMAHP DM locus-associated homeodomain protein;dystrophia myotonica-associated homeodomain protein;homeobox protein SIX5;sine oculis homeobox homolog 5 APPROVED protein-coding ENSG00000177045 10891 09024 600963;610896 REVIEWED 2306854 SKINTL Skint-like, pseudogene 1 1 1 p33 46854212 46934908 - 48399270 48445685 - 48567387 48648100 - 18408721;16710414 391037 A8MVG2 ABBA01050806;ABBA01050807;ABBA01050808;AL109659;AL356289;AMYH01000596;AMYH01000597;AMYH01000598;BX118767;DN994130;NR_026749 A8MVG2 Hs.585393 1650822;1699846;1700630;1723505;1760573 AL009484;RH103530;RH103938;RH118569;SHGC-144043 SKINT1;SKINTP APPROVED pseudo 33993 VALIDATED 1606383 SKIDA1 SKI/DACH domain containing 1 10 10 10 p12.31 21490230 21502423 - 21842413 21854617 - 21802407 21814611 - 6480464 16344560;7829101;19913121;20628086;19322201;23535730 387640 E9PAX1;F5H7M0;Q1XH10 AB234866;ABBA01034496;ABBA01034497;AK127130;AK131456;AL358780;AL834446;AMYH01002172;AMYH01002173;BC142633;BI497298;CH471072;DB320086;NM_207371 AAI56042;BAC86842;BAD18601;BAE93016;CAD39106;EAW86167;NP_997254;Q1XH10 Hs.350848 5015861;5037552;7185938 D10S16;D8S2279 C10orf140;DKFZp761J229;DLN-1;FLJ45187 OTTHUMP00000183707;SKI/DACH domain-containing protein 1;protein DLN-1 APPROVED protein-coding ENSG00000180592 32697 16981 VALIDATED 1605497 SKOR1 SKI family transcriptional corepressor 1 15 15 15 q23 45005997 45014230 + 65904995 65913228 + 68112042 68126174 + 6480464 19279021;18541116;17637780;16572171;15528197;17292623;19822783;20935630;21641385;21779176 390598 G3V3E1;G3V5H7;P84550 ABBA01038789;ABBA01038790;AC009292;AMYH01006735;AY669507;NM_001258024 AAI68376;AAV74188;NP_001244953;P84550 Hs.451224 CORL1;FUSSEL15;LBXCOR1 LBX1 corepressor 1;Lbxcor1 homolog;OTTHUMP00000244643;OTTHUMP00000244644;OTTHUMP00000244645;SKI family transcriptional corepressor 1;corepressor for LBX1;functional Smad-suppressing element on chromosome 15;functional smad suppressing element 15;fussel-15;ladybird homeobox corepressor 1;transcriptional corepressor CORL1 APPROVED protein-coding 21326 611273 VALIDATED 3160638 SKOR2 SKI family transcriptional corepressor 2 18 18 q21.1 43000291 43029552 - 44738460 44775554 - 21102462;16200078;18522874;20029986 652991 Q2VWA4 ABBA01018617;ABBA01018618;AC051635;AMYH01008974;AMYH01008975;AY669508;DW009659;NM_001037802;NM_001278063;XM_001715219;XM_003403698;XM_003960751 AAV74189;NP_001032891;NP_001264992;Q2VWA4;XP_001715271;XP_003403746;XP_003960800 1696396;1855037;5016002 Fussel18;G18029;SHGC-77853 CORL2;FUSSEL18 LBX1 corepressor 1-like protein;SKI family transcriptional corepressor 2;functional Smad-suppressing element on chromosome 18;functional smad suppressing element 18;fussel-18;ladybird homeobox corepressor 1-like protein protein-coding ENSG00000215474 32695 VALIDATED 1354438 SKAP1 src kinase associated phosphoprotein 1 This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008] 17 17 q21.32 43565801 43862593 - 46210802 46507594 - 1580863;6480464 9195899;17658605;16980616;16461356;15939789;15849195;15489334;12652296;12477932;12171928;11909961;10856234;10358754;9837776;9748251;9671755;9232446;22318606;18029348;19667759;19798671;20346707;20379614;20852632;21669874;21832049;21652578;10229084;22949513;23535730 8631 J3KS83;J3KSD4;J3QKX8;J3QRG3;J3QS38;Q86WV1 ABBA01041159;ABBA01041160;ABBA01041161;ABBA01041162;ABBA01041163;ABBA01041164;ABBA01041165;ABBA01041166;ABBA01041167;AC006468;AC027152;AC036222;AC090627;AK290818;AMYH01008452;BC039040;BC047870;CH471109;DR007155;NM_001075099;NM_003726;Y11215 AAH47870;BAF83507;CAA72101;EAW94747;EAW94748;EAW94749;EAW94750;EAW94751;NP_001068567;NP_003717;Q86WV1 Hs.316931 1335558;1336107;1650782;1704696;1733318;1752999;1780000;2114168;2114170;2190635 A005N37;D17S1150;D17S1349E;D17S958;D8S11022;G20361;RH12627;SHGC-154250;SHGC-68727;SHGC-79003 SCAP1;SKAP55 SKAP-55;pp55;src family associated phosphoprotein 1;src family-associated phosphoprotein 1;src kinase-associated phosphoprotein 1;src kinase-associated phosphoprotein of 55 kDa APPROVED protein-coding ENSG00000141293 15605 05396 604969 REVIEWED 1350075 SKP1P2 S-phase kinase-associated protein 1 pseudogene 2 12 p12.3 17141681 17143562 + 8646875;8646875 6501;728622 ABBA01067914;AC023512;AK310444;AMYH01004306;NR_036619 Hs.741380 1681660;2146207;5014051 D8S2278;SHGC-5625;STS-U37558 FLJ17486;SKP1B;p19B APPROVED pseudo 10900 601435 VALIDATED 1345057 SKAP2 src kinase associated phosphoprotein 2 The protein encoded by this gene belongs to the src family kinases. This protein is similar to the src kinase associated phosphoprotein 1. It is an adaptor protein that is thought to play an essential role in the src signaling pathway in various cells. It inhibits PTK2B/RAFTK activity and regulates alpha-synuclein phosphorylation. [provided by RefSeq, Jul 2008] 7 7 p15.2 26673212 26870866 - 26706687 26904341 - 1580863;6480464 9671755;9837776;11390434;17952125;17081983;15761153;15489334;15166227;12893833;12853948;12690205;12477932;11301322;11063873;10942756;10527689;9755858;8125298;19430480;19807924;20378605;10469599;19913121;20628086;21719704;21832049;22745667;21906983;23161539;23128233;19380743 8935 B7Z5R3;C9JQ17;O75563 AACC02000007;AB014486;ABBA01056751;ABBA01056752;ABBA01056753;AC003999;AC011299;AF051323;AF072166;AF174049;AJ004886;AK222885;AK299216;AK299317;AK311454;AK313209;AMYH01017130;BC002893;BC036044;BI547092;BI826753;CH236948;CH471073;NM_003930 AAC39924;AAC99296;AAD53795;AAH02893;AAH36044;AAS02033;AAS07536;ABM83822;ABM87143;BAA36194;BAD96605;BAG36025;BAH12970;BAH12999;CAA06193;EAL24231;EAW93858;EAW93859;EAW93860;NP_003921;O75563 Hs.200770;Hs.610137 1648670;1652969;1684138;1698202;1752989;1753119;1756543;1778848;2132599;5016911;5017564 D7S2810;G17151;RH102637;RH70585;RH93855;SHGC-143572;SHGC-68527;SHGC-77918;SKAP2;WI-11266;WI-12672 MGC10411;MGC33304;PRAP;RA70;SAPS;SCAP2;SKAP-HOM;SKAP55R Fyn-associated phosphoprotein SKAP55 homologue;OTTHUMP00000122527;Pyk2/RAFTK-associated protein;SKAP-55HOM;SKAP55 homolog;retinoic acid-induced protein 70;src family associated phosphoprotein 2;src family-associated phosphoprotein 2;src kinase-associated phosphoprotein 2;src kinase-associated phosphoprotein 55-related protein;src kinase-associated phosphoprotein of 55-related protein;src-associated adapter protein with PH and SH3 domains;src-associated adaptor protein APPROVED protein-coding ENSG00000005020 15687 05558 605215 REVIEWED 1316254 SKA3 spindle and kinetochore associated complex subunit 3 This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 13 13 13 q12.11 2789717 2812399 - 20625734 20648710 - 21727734 21750741 - 6480464 19289083;19646878;19387489;19360002;16565220;15592455;15489334;15144186;15057823;14702039;12477932;19458608;19549680;17207965;21832049;22939629;22990118;19156129;22483620;19471022;21139048;21906983;22371557 221150 F5GWG1;F5H8H7;Q8IX90 ABBA01068601;AF361358;AK090584;AK307976;AK314864;AL158032;AMYH01004955;BC013418;BC048988;BI460315;CH471075;NM_001166017;NM_145061 AAH13418;AAH48988;AAO13796;ADQ32474;BAC03484;BAG37379;EAX08293;EAX08294;EAX08295;NP_001159489;NP_659498;Q8IX90 Hs.88523 1691292;2149321;7183240 RH93582;STS-T26585 C13orf3;MGC4832;RAMA1 OTTHUMP00000018108;OTTHUMP00000176878;OTTHUMP00000176879;spindle and kinetochore-associated protein 3 APPROVED protein-coding ENSG00000165480 20262 10706 REVIEWED 1351044 SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] 6 6 p21 32034560 32045511 + 31926581 31937532 + 1580863;6480464 9705521;7610041;15231747;18976687;17997607;17542649;17081983;16964243;15302935;12477932;11719186;11487501;10774746;9799600;9264031;8812450;8132574;7759100;19913121;20587610;20628086;20861866;20385819;19556007;19851445;22939629;16024656;22586326;23260260;21139048;21890473;21906983;21987572;23455636;22444670;23382691;21963094;21988832;22053931;22797925 6499 B4DM01;B4E0B4;F5H7B0;F8WDE8;H7C4L3;H7C5N0;Q15477 AB209605;ABBA01038099;ABBA01038100;AF019413;AF059675;AK293881;AK297230;AK299967;AK303302;AK303448;AL049547;AL529319;AL645922;AL662849;AL844853;AMYH01016223;BC015758;BE395851;BG396326;BX005143;CH471081;CR753822;CR753845;CR759782;NG_032652;NM_006929;U09877;U37116;U37117;X98378;Z48796 AAA93258;AAA93259;AAB52523;AAB67978;AAC78607;AAH15758;ABM83013;ABW03481;BAD92842;BAG57270;BAG59713;BAG61793;BAG64376;BAG64493;CAA67024;CAA88733;CAB89307;EAX03554;EAX03555;EAX03556;EAX03557;NP_008860;Q15477 Hs.89864 2128137;2178940 RH70616;WI-16314 170A;DDX13;HLP;SKI2;SKI2W;SKIV2;THES2 OTTHUMP00000029197;helicase SKI2W;helicase-like protein;superkiller viralicidic activity 2 (S. cerevisiae homolog)-like APPROVED protein-coding ENSG00000204351 10898 02724 600478;614602 REVIEWED 1314830 SKIL SKI-like oncogene The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 q26 171558208 171593230 + 170075473 170114637 + 1580863;2308901;2308888;6480464;6484113 19189315;19382458 22767605;10531062;9207045;19383336;19096149;18782659;18612694;18261624;17625116;17591695;17510063;17469184;17074815;17062133;16966324;16442497;16314499;16109768;15809735;15677458;15489334;15231748;12764135;12522145;12477932;12426322;11691834;11511096;11389444;9927733;8233802;2762147;11278756;15761153;20457602;15496141;19889106;10049357;14712482;15967445;16675394;17202138;18334480;19538364;19898560;20093492;20460516;8514802;15221015;20957027;9988677;11306568;23154981;17276978;23178716;16959829;21988832;23154181;23418461;23530056;16344560;21795712;22710172;22710173;20959473;21139048;21693764;21890473;22227247;21743467;22674574;18729074 6498 C9J8R9;H7C4V3;P12757 AA827643;AA827646;ABBA01058682;ABBA01058683;AC073288;AI245308;AK300053;AMYH01013644;BC041913;BC059386;CH471052;DA464211;JX103164;NG_030357;NM_001145097;NM_001145098;NM_001248008;NM_005414;U70730;X15217;X15219;Z19588 AAB65850;AAH59386;ABZ92141;ADZ15581;AFM38218;BAG61862;CAA33287;CAA33289;CAA79636;EAW78511;EAW78512;NP_001138569;NP_001138570;NP_001234937;NP_005405;P12757 Hs.536655;Hs.581632 1658412;1662175;1674214;1697292;2115782;2174028;2180038;2184985;5015861;5022578;7185938 D10S16;D1S1423;G15941;RH102143;RH68630;SHGC-35445;SHGC-77527;STS-X15217;STS-X15219;WI-9234 SNO;SnoA;SnoI;SnoN OTTHUMP00000213557;OTTHUMP00000213591;OTTHUMP00000213592;OTTHUMP00000213595;ski-like protein;ski-related oncogene snoN;ski-related protein APPROVED protein-coding ENSG00000136603 10897 01319 165340 REVIEWED 1606819 SKIV2L2 superkiller viralicidic activity 2-like 2 (S. cerevisiae) 5 5 5 q11.2 51556391 51674226 + 54639373 54756562 + 54603576 54721409 + 6480464 16782053;15635413;7584044;14667819;15231747;18309376;17542649;17412707;16344560;15489334;14676314;12477932;12429849;11991638;11812149;11790298;11719186;11110791;21145461;17353931;17643375;20811636;22939629;18029348;19156129;21139048;21693764;21890473;21906983;22145905;19596686;22586326;16263084;21628590;21252943;20531386;22174317;22952844 23517 D6REC7;F5H7E2;H0Y8U3;H0YAC4;P42285;Q3MHC9 ABBA01015739;AC010480;AC020728;AK291649;AK304788;AMYH01015089;BC014669;BC028604;BC031779;BC065258;BC104996;BC105291;BC113509;BX640789;CH471123;D29641;DA524147;NM_015360 AAH14669;AAH28604;AAH31779;AAH65258;AAI04997;AAI05292;AAI13510;BAA06124;BAF84338;BAG65538;CAE45877;EAW54919;NP_056175;P42285 Hs.274531 1676980;1684311;1729297;2175710;5109609 D20S536E;G64173;RH76135;RH99030;WI-15758 Dob1;KIAA0052;MGC142069;Mtr4;fSAP118 ATP-dependent helicase SKIV2L2;OTTHUMP00000122510;functional spliceosome-associated protein 118;superkiller viralicidic activity 2-like 2 protein-coding ENSG00000039123 18734 13777 VALIDATED 1347276 SKP1 S-phase kinase-associated protein 1 This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008] 5 5 q31 133520468 133540583 - 133492082 133512724 - 6480464;6484113;6907045 12504026;16943429;12791267;9660940;12820959;15469984;11231585;18784078;17569795;17274640;16705156;16682006;16123585;15635413;15489334;15280393;15070733;14743216;14702039;14685242;12746458;12679038;12665572;12609982;12481031;12477932;12417738;12140560;12117534;11961546;11956208;11717410;11585921;11389839;11359933;11337588;11099048;10713156;10644755;10531037;10531035;10508920;9990852;9872132;9858587;9827542;9430629;9031623;8912791;8706131;8646875;8530064;7558018;7553852;18378770;12628165;10230407;18426905;10918611;10559858;17353931;11689688;16169070;16009132;18094045;18775313;19270694;19509332;19762596;19933270;20360068;21952639;15103331;16278047;16880511;17098746;17290223;17389369;17389604;17434132;19159283;19615732;19776120;20057081;20379614;20404110;15640526;15966899;15118074;15145941;15342634;15452136;15469821;20668394;16357137;16759355;10559916;11027288;16275325;16714087;18284940;18660753;18809579;21145461;22310285;22474075;9636170;9663463;11850407;12717421;11245432;11483504;21402913;23086937;22939629;10066435;10228155;10230406;10321728;10514433;10648623;21378169;17205132;18071316;21640084;12165731;16196087;17081987;20181953;20181957;21778237;10074433;17314511;19996097;21757720;15456869;19471022;19786724;18781797;18818696;19061640;20041211;20832730;21139048;21249194;21572988;21620836;21726808;21890473;21906983;22113614;22205987;10023660;12963825;17283138;22242598;22325352;22730322;17704768;22399757;22590978;22660580;22479149;22464731;12684064;12904573;14706645;14752276;15109709;15772084;16503656;16979657;17215248;17494702;18203720;18784254;19193609;19322201;19398581;19762597;20160477;20473970;21169563;21205095;21628590;22205206;22388891;22632967;22669845;22767593;12504025;17998335;19066453;21466614;22295074;22405651;9857061;10973499;11565034;12840033;19295130;19828458;20484041;22190034;22268729;22505724;22952844;22972877;22975506;23027877;23045529;22761574 6500 E5RGM3;E5RGM4;E5RHM3;E5RI56;E5RJR5;E5RK33;E7ERH2;F8W8N3;P63208 ABBA01068766;AC011336;AC104109;AI025746;AI028694;AK057110;AMYH01015622;BC009839;BC020798;BC025673;BC065730;BI552966;BI670085;BQ632052;CH471062;L49170;L49173;L49176;NM_006930;NM_170679;U33760;U37558;Z47087 AAA79202;AAB50032;AAB50264;AAB50265;AAC50241;AAH09839;AAH20798;AAH25673;AAH65730;ABM82438;ABM85629;ACE86547;ACE87228;CAA87392;EAW62270;EAW62271;EAW62272;EAW62273;EAW62274;EAW62275;EAW62276;NP_008861;NP_733779;P63208 Hs.171626 1681660;1734272;1771820;1774867;1780652;2146207 D4S2465E;RH67782;SHGC-5625;STS-U37558;WI-13758;bac51513T EMC19;MGC34403;OCP-II;OCP2;SKP1A;TCEB1L;p19A OCP-2;OTTHUMP00000159379;OTTHUMP00000159380;OTTHUMP00000228275;OTTHUMP00000228276;OTTHUMP00000228278;OTTHUMP00000228279;OTTHUMP00000228281;RNA polymerase II elongation factor-like protein OCP2;S-phase kinase-associated protein 1;SIII;cyclin A/CDK2-associated p19;cyclin A/CDK2-associated protein p19;cyclin-A/CDK2-associated protein p19;organ of Corti protein 2;organ of Corti protein II;p19skp1;transcription elongation factor B;transcription elongation factor B (SIII), polypeptide 1-like APPROVED protein-coding ENSG00000113558 10899 03255 601434 VALIDATED 1351693 SLA Src-like-adaptor 8 8 q24 134118155 134184479 - 134048973 134115310 - 1580863;6480464;6484113 10662792;22561518;7543898;19240061;16521218;16344560;15489334;15117958;12477932;11696592;11179692;10779329;10449770;9660183;9020066;8825655;17237826;21145461;22798681;16169070;19631983;20379614;16327786;22832960;21900206;18193084;16273093;23300935;22505724 6503 B7Z4J2;B7Z4L6;E5RGG0;E5RH80;E5RHT2;E5RJ69;E5RJB0;E5RK29;E5RK95;Q13239;Q6FI01 ABBA01014201;AF235100;AF305872;AJ238591;AK297423;AK297519;AK309401;AK310092;AK310108;AK310115;AK311010;AK312584;AMYH01019037;BC007042;BT019994;BX648382;CH471060;CR536537;D89077;DA483212;DA522819;DA999385;DB265860;DC313073;FB775548;HI573974;HI573976;HI573978;NG_015832;NM_001045556;NM_001045557;NM_006748;U30473;U44403;Y18324 AAC27662;AAC50357;AAH07042;AAV38797;ACE86434;ACE87109;BAA13758;BAG35478;BAH12578;BAH12602;CAB53536;CAG38774;CAV30731;CBX47476;CBX47477;CBX47478;EAW92159;NP_001039021;NP_001039022;NP_006739;Q13239 Hs.75367 1341222;1342341;1650843;1685405;1722115;1739113;1757497;2117835;2117837;2117839;2143551;2148358;2186046;7185587 A002K18;D17S1775;D1S466;D8S1538;D8S529;G60100;HSC06D062;IB3077;RH11483;RH47284;SHGC-144869;SHGC-32844;WI-3500 SLA1;SLAP OTTHUMP00000226704;OTTHUMP00000226705;OTTHUMP00000226706;OTTHUMP00000226708;SLAP-1;hSLAP;src-like-adapter;src-like-adapter protein 1 protein-coding ENSG00000155926 10902 03060 601099;613811 VALIDATED 1603921 SLAIN1 SLAIN motif family, member 1 13 13 13 q22.3 59170471 59236367 + 77170471 77236378 + 78271989 78338377 + 6480464 12477932;16546155;16344560;14702039 122060 B7Z326;C9JAC5;C9JD09;C9JP03;C9JUW9;Q5T6P1;Q5T6P2;Q5T6P5;Q7L0J2;Q8ND83 ABBA01021668;AK054608;AK094337;AK289600;AK289714;AK294201;AK295423;AL354831;AL834203;AL834332;AMYH01005224;AMYH01005225;BC045177;BC111497;BG391962;BI599720;BQ433296;CH471093;DA096260;DA343547;DB500463;NM_001040153;NM_001242868;NM_001242869;NM_001242870;NM_001242871;NM_144595 AAH45177;AAI11498;ACE86713;ACE86714;ACE86717;ACE87398;ACE87399;ACE87403;BAB70772;BAF82289;BAF82403;BAH11695;BAH12062;CAD38891;CAD39000;EAW80571;NP_001035243;NP_001229797;NP_001229798;NP_001229799;NP_001229800;NP_653196;Q8ND83 Hs.349955;Hs.732587 1656783;1690308;1855569;2158150 G27419;RH80471;SHGC-8188;WI-19918 C13orf32;FLJ30046;MGC131899 OTTHUMP00000018528;OTTHUMP00000018529;OTTHUMP00000018531;OTTHUMP00000215095;OTTHUMP00000215096;OTTHUMP00000215097;SLAIN motif-containing protein 1 protein-coding ENSG00000139737 26387 13400 610491 VALIDATED 6480156 SLAMF6P1 SLAM family member 6 pseudogene 1 1 q23.3 162415339 162415676 + 100862852 ABBA01047305;AL359699;AMYH01001464;NG_032142 pseudo 32012 INFERRED 1320351 SLA2 Src-like-adaptor 2 This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 31947996 31982111 - 34674336 34707972 - 35240922 35274619 - 1580863;6480464 11891219;11696592;15489334;14702039;12527895;12477932;12024036;11780052;17353186;20828795;21044367;16344560;16623714;22505724 84174 Q9H135 ABBA01006582;ABBA01006583;ABBA01006584;ABBA01006585;AF290985;AF290986;AF326353;AK025645;AK291513;AL031662;AL050318;AMYH01011882;AMYH01011883;BC042041;BF062179;BF510664;BQ052468;CH471077;DA983348;NG_031823;NM_032214;NM_175077 AAH42041;AAL29204;AAL38197;AAL38198;BAB15201;BAF84202;EAW76116;EAW76117;EAW76118;EAW76119;NP_115590;NP_778252;Q9H6Q3 Hs.713578 1662759;1671904;2146297;2151711;2162048;2180836;5014023 AL031472;D13S1553;D20S1010;HUM000AA21;RH65678;WI-19258;Z94699 C20orf156;FLJ21992;MARS;MGC49845;SLAP-2;SLAP2 MARS;OTTHUMP00000030867;OTTHUMP00000030868;Src-like adapter protein-2;modulator of antigen receptor signaling;src-like adapter protein 2;src-like-adapter 2 APPROVED protein-coding ENSG00000101082 17329 05955 606577 REVIEWED 1602874 SLAIN2 SLAIN motif family, member 2 4 4 4 p11 48792323 48877038 + 48038370 48122972 + 48343613 48428215 + 6480464 16546155;14702039;12477932;10819331;7757816;16712791;20056178;21646404;21832049;22939629;20360068;19531213;21706016;23128233 57606 D6REM5;D6RIF6;H0Y9L2;Q9P270 AB040891;ABBA01014345;ABBA01014346;ABBA01014347;ABBA01014348;AC024191;AC096952;AC098873;AK025264;AK026476;AK291006;AMYH01014160;AMYH01014161;BC006139;BC007701;BC012067;BC031691;BC040993;CB157681;CH471069;NM_020846;Z25182 AAH31691;AAH40993;BAA95982;BAB15095;BAF83695;EAW93057;EAW93058;NP_065897;Q9P270 Hs.479677 1643620;1645651;1659780;1678507;1680940;1686564;1686889;2159602;2185363 D4S2471E;D4S2482E;D4S2804;G34404;RH70048;SHGC-50258;SHGC-67310;SHGC-67327;SHGC-8621 FLJ21611;KIAA1458 OTTHUMP00000220622;OTTHUMP00000223077;SLAIN motif-containing protein 2 protein-coding ENSG00000109171 29282 610492 VALIDATED 1607086 SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011] 5 5 p13 36187946 36219904 + 36152145 36184143 + 2315043;2315049;2315050;2315036;2315038;2315029;2315035;2302384;2315042;2315044;2315045;2315046;6480464;6484113;6907045 16080017;19852587;19533683;19094580;18922157;19450994;19350629;18559093;16525656;15351619;15220466;12670908 20883453;18826954;22453922;22322669;18808421;18716061;18695910;18644126;18628304;18620845;18620730;18538504;18516647;18514141;18451165;18381934;18243116;18202766;18196971;18097041;18071316;18064393;18008005;17962192;17908926;17785450;17724117;17652624;17639054;17581405;17560996;11931757;12504026;12813041;16286470;17157259;7553852;19270695;19270694;19174556;19147533;19056892;19047054;19034576;19029817;17513606;17499794;17471231;17431674;17407140;17384652;17303695;17283060;17081983;16979657;16951159;16924241;16902410;16883603;16861300;16835890;16803887;16774918;16754685;16705171;16636894;16581786;16537899;16489076;16428491;16425372;16425184;16376880;16232199;16024059;15963850;15949444;15855168;15833859;15767556;15756449;15736055;15735730;15645119;15631990;15605273;15491322;15489334;15483027;15469821;15355997;15342634;15297415;15215173;15201993;15138278;15096506;15041716;15014503;15014502;14993212;14707456;14615539;14592976;14586067;14558671;12925736;12904306;12883474;12861003;12840033;12738731;12670508;12579266;12529174;12477932;12435635;12429629;12351407;12208864;12188931;12133445;11961546;11689688;11425869;11337588;11237742;11231585;11226270;11099048;10871850;10559916;10559858;10386600;9858587;9827542;9430629;8646875;16103164;18173839;12609982;18519678;12140288;18765672;10531035;12042314;15070733;15735731;10918611;11255262;16275325;16338391;17438373;18247557;19112177;21145461;21212736;22013077;22310285;9636170;9663463;20160477;20160482;20134482;19913121;20628086;20659261;10652300;16344560;16209941;16463785;16880511;17409098;17439941;17477906;17679094;18162579;18604603;18953829;19451650;19557642;19587092;19615363;19615732;19631451;19636294;19657571;19738611;19828607;19889619;19935701;20424123;20508983;20513428;19724954;15668399;18769160;20864512;12097298;12717421;12769844;17345711;15004027;15314162;15452136;20465575;20717963;16170383;16865698;12963825;17786314;22533738;22632973;20663873;19961778;21245140;21237244;21270971;11245432;18800682;20734220;22939629;23071779;23086937;23300741;23261596;23277542;9736735;10230406;20422979;21514447;21358672;19686743;21503567;21386910;20818375;21571647;21677876;10790373;11463388;21238503;21781227;20360068;21704589;20041211;20426910;21119685;21841822;21946088;21969365;15456869;15980415;19786724;21558842;18950007;21980072;21249194;21630295;21768776;21987572;21139048;21890473;21906983;22077337;22770219;22203671;22252296;13678583;15075339;15772084;17187060;17308064;18784254;19322201;19398581;19622356;21352698;22204716;22515289;17704768;22440256;22464731;22094872;18820369;23229098;18239684;21963094;21988832;22939624;22995332;17463251;22714061;23455922;23071715;23328995;22158033;11565034;22505724;22797925;22975506;23045395;23062638;23328082;23352642;23589337 6502 D6R9R7;D6RAG5;D6RF40;H0Y9I9;Q13309 AB050979;AB050980;AB050981;ABBA01024162;ABBA01024163;ABBA01024164;AC008942;AK026224;AK291255;AK295152;AK296223;AMYH01015025;AY029177;BC001441;BC007441;CA415778;CH471119;DA223617;NG_029643;NM_001243120;NM_005983;NM_032637;U33761 AAC50242;AAH01441;AAH07441;AAK31593;BAB87200;BAB87201;BAB87202;BAF83944;BAG58168;BAG58946;EAW55934;EAW55935;EAW55936;EAW55937;EAW55938;NP_001230049;NP_005974;NP_116026;Q13309 Hs.23348 1676442;2170028;5015619;5022200;5037552 D11S3114;D8S2279;L18426;L28202;RH64840 FBL1;FBXL1;FLB1;MGC1366;p45 CDK2/cyclin A-associated protein p45;F-box protein Skp2;F-box/LRR-repeat protein 1;OTTHUMP00000161733;OTTHUMP00000161734;OTTHUMP00000221389;S-phase kinase-associated protein 2;S-phase kinase-associated protein 2 (p45);cyclin A/CDK2-associated protein p45;cyclin-A/CDK2-associated protein p45;p45skp2 APPROVED protein-coding ENSG00000145604 10901 03256 601436 REVIEWED 1344109 SLAMF1 signaling lymphocytic activation molecule family member 1 1 1 q23.3 158846513 158883493 - 160579891 160617081 - 1580863;6480464;6907045 7617038;19199539;18676680;18287234;18020706;17715217;17692919;17560639;16889684;16344560;15661039;15356162;15315965;15308701;15193925;14707094;14657878;12629654;12621057;12610126;12477932;12458214;12270725;11806999;11689425;11544303;11489980;11477068;11414741;10972291;10802665;10229804;9774102;9091591;12545174;10607564;21423089;20618687;20810499;19170196;19625176;19692168;20237496;20379614;20042501;20231852;21357537;21450813;22974441;22086389;22479419;22493499;22532682;22194822;22277902;21982860;23128233 6504 B4E2E4;E7ET99;Q13291 AA825199;ABBA01016612;AF252304;AF252305;AF252306;AK304237;AK311666;AK314244;AL121985;AL138930;AMYH01001453;AY040554;BC012602;BC067847;BC110349;BC132792;BC144498;BC144499;BC144500;CH471121;DB133023;FB584107;NM_003037;U33017 AAA75380;AAG10433;AAG10434;AAG17628;AAH12602;AAI32793;AAK77968;ADR82949;BAG36911;BAG65106;CAR96687;EAW52706;NP_003028;Q13291 Hs.523660 1342069;1667229;1768527;1857338;1857340;2218604 D1S2771;G34872;RH18033;RH79145;SGC35581;SLAM_4157 CD150;CDw150;SLAM IPO-3;OTTHUMP00000025670;signaling lymphocytic activation molecule protein-coding ENSG00000117090 10903 04603 603492 VALIDATED 1314275 SLAMF9 SLAM family member 9 This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] 1 1 1 q23.2 132989718 132992480 - 158187908 158190634 - 159921282 159924044 - 1580863;6480464 18501771;16710414;15489334;12975309;12477932;11862385;11685473;11300479 89886 Q6NSE6;Q96A28 ABBA01016617;AF275725;AL513485;AMYH01001448;AY034613;AY358801;BC070213;BC074754;CB528634;CH471121;NM_001146172;NM_001146173;NM_033438 AAH70213;AAH74754;AAK61389;AAK69052;AAQ89161;EAW52754;EAW52755;NP_001139644;NP_001139645;NP_254273;Q96A28 Hs.661712 1678119 RH98461 CD2F-10;CD2F10;CD84-H1;CD84H1;MGC88194;SF2001 CD2 family member 10;CD84 homolog 1;OTTHUMP00000025749;OTTHUMP00000025750;SLAM family member 9;cluster of differentiation 2 antigen family member 10;cluster of differentiation 84 homolog 1;signaling lymphocytic activation molecule family member 2001;signaling lymphocytic activation molecule family member 9 APPROVED protein-coding ENSG00000162723 18430 12263 608589 REVIEWED 1345807 SLAMF6 SLAM family member 6 The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] 1 1 q23.2 158721444 158759666 - 160454820 160493052 - 1580863;6480464 17045824;12928397;12621057;17981603;17609265;16920955;16710414;16410313;15489334;15340161;15153464;14988414;12975309;12477932;11489943;8892612;8756661;6610481;21231893;19913121;20628086;11862385;16344560;20237496;20379614;22989874;21075351;22184727;23528733;21075348;21922073;21994772 114836 B4E1U5;Q96DU3 ABBA01016612;AJ277141;AJ306388;AK125624;AK300013;AK301026;AK303990;AK310085;AK313549;AL138930;AL832854;AMYH01001453;AW402723;AY358159;BC090928;BC113893;BC114495;CH471121;DB197632;JA738795;NM_001184714;NM_001184715;NM_001184716;NM_052931 AAI13894;AAI14496;AAQ88526;BAG36325;BAG54223;BAG62642;BAG64907;BAH13193;CAC59749;CAC59750;CAI46161;CCF77050;EAW52713;EAW52714;EAW52715;EAW52716;NP_001171643;NP_001171644;NP_001171645;NP_443163;Q96DU3 Hs.492348 5020948;5037552 D8S2279;G35510 CD352;FLJ50657;KALI;KALIb;Ly108;MGC104953;NTB-A;NTBA;SF2000 NK-T-B-antigen;NTBA receptor;OTTHUMP00000024347;OTTHUMP00000024348;OTTHUMP00000024349;SLAM family member 6;activating NK receptor;natural killer-, T- and B-cell antigen APPROVED protein-coding ENSG00000162739 21392 05920 606446 REVIEWED 736402 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010] 13 13 q33 102494351 102517197 - 103696348 103719196 - 1624186;1580863;6480464;6907045;7240710 9109432 11396803;7592981;19184108;18688880;18668439;18644122;18508772;18311924;18063707;18028035;17960397;17942302;16899538;16749860;16749855;16541252;16411770;16237211;16230354;15952798;15350125;15304498;15239098;15057823;12364586;12220224;12055195;11742882;11589382;11535543;9458785;8661017;12477932;19653651;19823678;20056894;20201924;20346360;20453000;20616306;20600720;21341987;21646357;21526375;22016432;22403793;21649730;22093174;21829377;22960999;22669917 6555 Q12908 ABBA01027068;AE014294;AL161771;AMYH01005342;BC130521;BC130523;CH471085;NG_016648;NM_000452;U10417;U67674;Z54350 AAC51870;AAC95398;AAI30522;AAI30524;AAN16026;ADR82931;CAA91161;EAX09074;NP_000443;Q12908 Hs.194783 1648809;1678101;1680435;1796772;2190129 99-62677;RH70986;RH93919;RH98835;SLC10A2_737 ASBT;IBAT;ISBT;NTCP2;PBAM Na(+)-dependent ileal bile acid transporter;OTTHUMP00000018682;ileal apical sodium-dependent bile acid transporter;ileal sodium-dependent bile acid transporter;ileal sodium/bile acid cotransporter;sodium/taurocholate cotransporting polypeptide, ileal;solute carrier family 10, member 2 APPROVED protein-coding ENSG00000125255 10906 03189 601295;613291 REVIEWED 7247659 SLC10A5P1 SLC10A5 pseudogene 1 100631269 ABBA01004052;AC090255;AMYH01018830;NG_029285 pseudo 48930 INFERRED 1345987 SLAMF7 SLAM family member 7 1 1 q23.1-q24.1 158975701 158991225 + 160709077 160724601 + 1580863;6480464 11802771;11698418;18451245;18216865;17981603;17906076;17878365;16710414;16410313;16381901;15489336;15489334;15368295;15340161;12975309;12621057;12477932;12242590;11230166;11220635;11076863;19904767;20237496;20345977;21988832;23250953;21982860;23128233 57823 A8K3U1;B4DPU4;B4DPY3;B4DVL7;B4DWA3;Q9NQ25;R4GND0 AB027233;ABBA01016611;AF291815;AF390894;AJ271869;AJ276429;AK290706;AK292097;AK292148;AK298499;AK298548;AK301137;AK301432;AK301438;AL121985;AL713801;AL833025;AL834424;AMYH01001453;AY358512;BC027867;CH471121;NM_021181 AAH27867;AAK11549;AAL26989;AAQ88876;ACE86969;ACE87659;BAB61022;BAF83395;BAF84786;BAF84837;BAG60706;BAG60745;BAG62729;BAG62960;BAG62965;CAB76561;CAB81950;CAD39085;CAL37819;CAL38153;EAW52703;EAW52704;NP_067004;Q9NQ25 Hs.517265 2159624;2179717;2218806 RH70763;SHGC-63665;SLAMF7_2176 19A;CD319;CRACC;CS1 19A24 protein;CD2 subset 1;CD2-like receptor activating cytotoxic cells;CD2-like receptor-activating cytotoxic cells;OTTHUMP00000025677;OTTHUMP00000025678;OTTHUMP00000025679;SLAM family member 7;membrane protein FOAP-12;novel LY9 (lymphocyte antigen 9) like protein;protein 19A protein-coding ENSG00000026751 21394 09432 606625 PROVISIONAL 1314782 SLAMF8 SLAM family member 8 This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008] 1 1 1 q23.2 132864904 132875709 + 158063103 158073906 + 159796479 159807282 + 1580863;6480464 16344560;16710414;16303743;15489334;15340161;14702039;12928397;12477932;11313408;20237496 56833 Q9P0V8;Q9Y351 ABBA01016618;AF144235;AF146761;AK074669;AL590560;AMYH01001448;BC109194;CH471121;CQ782632;DA578369;NM_020125 AAD33923;AAF67470;AAI09195;BAC11123;CAF85891;EAW52774;NP_064510;Q9P0V8 Hs.438683 1798158;2178946 SLAMF8_2285;WI-11725 BLAME;CD353;FLJ20442;MGC129578;SBBI42 B lymphocyte activator macrophage expressed;B-lymphocyte activator macrophage expressed;BCM-like membrane protein;OTTHUMP00000033462;OTTHUMP00000033463;SLAM family member 8 APPROVED protein-coding ENSG00000158714 21391 09429 606620 REVIEWED 737174 SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011] 14 14 q24.1 69312305 69333707 - 70242552 70264006 - 1580863;6480464;6907045 19343046;17635184;16541252;16123152;16027164;15922475;15604201;15489334;14701722;14660639;12663868;12477932;12044156;11031103;8132774;20679960;19815625;20031551;20346360;20424473;17207965;20857261;21109590;22744337;21341987;22029531;22098322;21988832;23150796 6554 B2RA41;Q14973 ABBA01030825;AF184235;AK314028;AL157789;AMYH01005826;AY544127;BC069799;BC069822;BC074724;BC126298;BC136355;CH471061;JQ814895;L21893;NM_003049 AAA36381;AAD56541;AAH69799;AAH69822;AAH74724;AAI26299;AAI36356;AAT11158;ADQ31923;ADR82943;AFL02669;BAG36738;EAW81011;NP_003040;Q14973 Hs.952 1664208;1775839;1798160;2163744 D14S1317;D14S1324;RH69025;SLC10A1_2001 NTCP Na(+)/bile acid cotransporter;Na(+)/taurocholate transport protein;Na/taurocholate cotransporting polypeptide;OTTHUMP00000245521;cell growth-inhibiting gene 29 protein;growth-inhibiting protein 29;sodium/bile acid cotransporter;sodium/taurocholate cotransporter;sodium/taurocholate cotransporting polypeptide;solute carrier family 10 member 1;solute carrier family 10, member 1 APPROVED protein-coding 10905 01672 182396 REVIEWED 1350910 SLBP stem-loop binding protein This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008] 4 4 p16.3 1664325 1683828 - 1694527 1714030 - 1580863;6480464 9049306;10825184;19155325;18490441;18025107;17499042;17081983;16982637;16931877;16492733;15916543;15829567;15546920;15489334;15260483;14702039;12588979;12477932;12415002;11782445;10982817;10207079;8957003;8652556;1338771;14536070;16086026;16912046;18172165;20348956;23329046;22907757;23286197;22328085;22439849;20881960;23234701 7884 E7EUV9;F8W8D3;H0YAE8;H7C4H8;Q14493;Q53XR2 ABBA01029532;AC016773;AK091735;AK093314;AK094257;AK300826;AK315635;AMYH01013866;BC014908;BC015703;BT007433;CH471131;NM_006527;U75679;Z71188 AAB97091;AAH14908;AAH15703;AAP36101;ABM83296;ABM86505;BAG38003;BAG52407;BAG52687;BAG52851;BAG62479;CAA94918;EAW82576;EAW82577;EAW82578;EAW82579;EAW82580;NP_006518;Q14493 Hs.298345 1678745;2181474;2181694 RH27233;SHGC-67765;WI-11359 HBP OTTHUMP00000113498;OTTHUMP00000216797;OTTHUMP00000216798;OTTHUMP00000216799;OTTHUMP00000216816;OTTHUMP00000217544;hairpin binding protein, histone;histone RNA hairpin-binding protein;histone binding protein;histone stem-loop binding protein;histone stem-loop-binding protein;stem-loop (histone) binding protein APPROVED protein-coding ENSG00000163950 10904 03884 602422 REVIEWED 1604951 SLC10A6 solute carrier family 10 (sodium/bile acid cotransporter), member 6 4 4 4 q21.3 85034180 85059864 - 87963865 87989292 - 87744621 87770416 - 6480464 17491011;16541252;12477932;22791750 345274 Q3KNW5 ABBA01063513;AC079237;AC093827;AC105413;AJ583502;AMYH01014371;BC107051;BC107052;CH471057;EF437223;NM_197965 AAI07052;AAI07053;ABO38126;CAE47477;EAX05969;NP_932069;Q3KNW5 Hs.452996 1707190 SHGC-79180 MGC129575;MGC129576;SOAT OTTHUMP00000161170;OTTHUMP00000219455;sodium-dependent organic anion transporter;solute carrier family 10 member 6 APPROVED protein-coding ENSG00000145283 30603 11593 613366 VALIDATED 1314423 SLC10A5 solute carrier family 10, member 5 8 8 8 q21.13 78610394 78611710 - 82768446 82769762 - 82605891 82607207 - 6480464 17632081;16541252;14702039;12477932;23535730 347051 Q5PT55 ABBA01004051;AC132219;AK095808;AMYH01018830;AY825924;BC136625;BC136631;CH471068;NM_001010893 AAI36626;AAI36632;AAV80707;BAG53134;EAW87101;NP_001010893;Q5PT55 Hs.683849 1730818;2217978 D8S333E;SLC10A5_3741 P5 Na(+)/bile acid cotransporter 5;OTTHUMP00000227211;sodium/bile acid cotransporter 5;solute carrier family 10 member 5 APPROVED protein-coding 22981 18053 VALIDATED 1354490 SLC10A3 solute carrier family 10, member 3 This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008] X X X q28 153876701 153880053 - 153368842 153372189 - 153715650 153719002 - 1580863;6480464 17567994;16541252;16381901;15489336;12477932;11256614;11076863;8733135;3186440;1354645;19322201;21988832 8273 P09131;Q5HY78 ABBA01045273;AC244090;AMYH01023318;BC004966;BG327309;BX664739;CH471172;DB460327;DQ655958;DQ655959;L44140;NG_013261;NM_001142391;NM_001142392;NM_019848;X12458 AAA92651;AAH04966;CAA30998;CAL38023;CAL38530;EAW72697;EAW72698;EAW72699;NP_001135863;NP_001135864;NP_062822;P09131 Hs.522826 1702998;1800252;1801816;1803824;1807552;1832852;1835032;2037522;2037524;2037526;2037528;2037530;2037532;2037534;2037536;2037538;2037540;2037542;2037544;2037546;2037548;2037550;2037552;2037554;2037556;2037558;2037560;2037562;2037564;2037566;2037568 DXS7067;ECD00984;ECD01789;ECD02822;ECD04748;ECD17567;ECD18669;REN89772;REN89773;REN89774;REN89775;REN89776;REN89777;REN89778;REN89779;REN89780;REN89781;REN89782;REN89783;REN89784;REN89785;REN89786;REN89787;REN89788;REN89789;REN89790;REN89791;REN89792;REN89793;REN89794;REN89795 DXS253E;P3 OTTHUMP00000015404;OTTHUMP00000015405;OTTHUMP00000015406;P3 protein;Protein P3;solute carrier family 10 member 3 APPROVED protein-coding ENSG00000126903 22979 02418 312090 REVIEWED 736532 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 2 2 q35 218954996 218969861 + 219246752 219261617 + 1331525;1580863;5684951;5684952;5684937;5684939;5684966;5684967;5684936;5684944;5684950;5684957;5684960;5684948;5684956;5684971;5684972;5684943;5684974;5684976;5684962;6480464;5684926;5684940;5684977;5684925;5684975;5684929;5684928;5684941;5684932;5684949;5684968;5684970;5684961;5684934;5684931;5684930;5684938;5684942;5684955;5684969;7240710 15118671;16516037;16059695;18973068;18340647;12847242;12135431;18998137;17067929;16550170;15755200;15584484;17035062;15757519;10719815;10608779;17122779;21169917;18656410;14734525;21524304;17876529;10857800;22160516;19016783;21128323;21233146;17385031;19768110;16734634;11929588;11791966;14960532;19116231;19863441;20089160;18454481;17131479;15877293;11821237 16637265;12019922;7717395;19474129;19374813;19193106;19055603;18786141;18506362;18504650;18496987;18456389;18374540;18062835;17955444;17950034;17917676;17624216;17606764;17493019;17466092;17459898;17378896;17371589;17298451;17223386;17211726;17157384;17062442;17034726;16981342;16638645;8537108;16466030;16461017;16426236;16395392;16344560;16182589;16135804;16125248;16103355;16002921;15988535;15860357;15825023;15702130;15644277;15641099;15636493;15381817;15223010;15191519;15141734;15004750;14989712;14703493;12892615;12799146;12729343;12618857;12595908;12552460;12527228;12477932;12447767;12404162;12391841;12234138;12195379;12142377;12136340;12070036;11960304;11380946;11358358;10967134;10227396;10049947;9271100;9034150;8529098;8490962;7980580;7964458;22609013;19913121;20563497;20578522;20587610;20628086;20799037;16510578;16737570;17932044;19723394;20196868;20214763;20231985;20297661;20399512;20405176;20416077;20424473;19799071;22387151;21297633;23137204;21300803;21710855;21283567;21948377;21599885;22008758;21554230;22326178;23244274;23509347;22946062;23128233 6556 C0H5Y3;P49279;Q9HBK0 AB209650;ABBA01023871;AC021016;AF229163;AJ494846;AK294707;AK298667;AK303398;AK307954;AK310914;AK311405;AMYH01011494;BC033754;BC037550;BC041787;BC071165;CA307182;CH471063;D38171;D50402;D50403;DB284801;L32185;L38593;NG_012128;NM_000578;X82015 AAA57521;AAA57556;AAA57557;AAG15403;AAG15405;AAH71165;BAA07370;BAA08907;BAA08908;BAD92887;BAG57862;BAG60835;BAG64454;CAA57541;CAD39201;EAW70611;EAW70612;EAW70613;EAW70614;NP_000569;P49279 Hs.591607 1684353;2157972;5014039;5015619;5022322;5037552;5109281;5491993 D11S2560;D11S3114;D1S1425;D22S1584;D2S2821;D8S2279;RH80764;SLC11A1-1 LSH;NRAMP;NRAMP1 NRAMP 1;OTTHUMP00000109205;natural resistance-associated macrophage protein 1;solute carrier family 11 (sodium/phosphate symporters), member 1;solute carrier family 11 member 1 APPROVED protein-coding ENSG00000018280 10907 02601 600266;607948;610446 REVIEWED 1319926 SLC10A4 solute carrier family 10, member 4 4 4 4 p11 48934151 48940332 + 48180206 48185921 + 48485360 48491541 + 1580863;6480464 17106928;16541252;15489334;12477932;21890473;21906983;23128233 201780 Q96EP9 AA776274;ABBA01014349;ABBA01014350;AC096952;AI421729;AK126542;AMYH01014161;AY704414;BC012048;BC019066;CH471069;NM_152679 AAH12048;AAH19066;AAW30130;ABM83554;ABW03505;EAW93061;NP_689892;Q96EP9 Hs.132591 MGC29802;P4 Na(+)/bile acid cotransporter 4;OTTHUMP00000128285;bile acid transporter SLC10A4;sodium/bile acid cotransporter 4;solute carrier family 10 member 4 APPROVED protein-coding ENSG00000145248 22980 11562 VALIDATED 1351041 SLC10A7 solute carrier family 10, member 7 4 4 4 q31.22 144494604 144763675 - 147395627 147662535 - 147175137 147443123 - 6480464 19240061;17628207;16381901;16344560;15932064;15489336;15489334;12477932;11256614;11230166;11076863 84068 Q8IZ62 ABBA01070044;ABBA01070045;ABBA01070046;ABBA01070047;ABBA01070048;ABBA01070049;ABBA01070050;AC093863;AC106879;AK075364;AK126000;AK172727;AK291046;AL136728;AMYH01014600;AY346324;BC023288;BC063471;BC120970;BC120971;BC127626;BC127627;BC148252;BC150308;CH471056;CR933647;CR936751;DB205503;DQ122860;DQ122861;DQ871036;NM_001029998;NM_032128 AAH23288;AAH63471;AAI20971;AAI20972;AAI27627;AAI27628;AAI46685;AAI48253;AAI50309;AAQ84722;AAZ32256;AAZ32257;ABI31650;ACE86574;ACE86578;ACE87257;ACE87263;BAC11571;BAF83735;BAG54274;CAB66662;CAI45948;CAL37739;EAX05026;NP_001025169;NP_115504;Q0GE19 Hs.659209 1664515;1695086;1708018;1727105;1776617;2149773 D4S1238;D4S655;D4S830;G62955;SHGC-81357;STS-N30034 C4orf13;DKFZp313H0531;DKFZp566M114;DKFZp779O2438;MGC25043;P7 Na(+)/bile acid cotransporter 7;OTTHUMP00000220218;OTTHUMP00000220219;OTTHUMP00000220221;OTTHUMP00000221097;SBF-domain containing protein;chromosome 4 open reading frame 13;sodium/bile acid cotransporter 7;solute carrier family 10 member 7 APPROVED protein-coding ENSG00000120519 23088 13177 611459 VALIDATED 737578 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] 12 12 q13 49666044 49706409 - 51373566 51422058 - 1580428;1580430;1580431;729808;1580863;2311409;5688411;5688715;5688713;5688710;5688724;5688718;6480464;5688709;5688403;5688410;6484113 14675167;16439678;15459009;9448300;17116743;21325818;20125122;19011085;21276595;20336479;17510944;21278260;21777657;21710629 15139022;7613023;18667808;18419598;18082289;17980698;17293870;17109629;16344560;16123094;15880641;15792797;15644277;15636493;15489334;15223008;23016933;22068728;22154351;22666436;15024413;14768003;14702039;12973678;12949888;12949720;12734107;12662899;12477932;12475959;12209011;12139757;12127992;11943663;11897618;11891802;11842004;11755534;11439223;11095929;10984552;10751401;9790986;9642100;9464519;9241278;21074515;19913121;20587610;20628086;10625641;17932044;18776082;18876082;19679638;20007457;20152801;20164305;20379614;22137264;20410187;21199652;20945371;21948377;20089134;19706893;22509377;22383495;21871825;21798283;22371024;22310887;21947861;22736759 4891 F8VR36;F8VRL7;F8VWB0;F8VZL6;F8W154;F8W1C0;F8W1D8;F8W1F2;F8W1P7;H0YIV3;Q8IUD7 AB004857;AB015355;AB062284;ABBA01031592;ABBA01031593;AC087884;AF046997;AF064482;AF064484;AJ493662;AK094735;AK128640;AK296445;AK315987;AK316507;AL832886;AMYH01004459;BC002592;BC100014;CD365137;CH471111;CK000292;DA417090;DA737206;DA957633;DB350334;DC324894;L37347;NG_021139;NM_000617;NM_001174125;NM_001174126;NM_001174127;NM_001174128;NM_001174129;NM_001174130;NR_033421;NR_033422 AAA79219;AAC18078;AAC21459;AAC21460;AAC21461;AAH02592;AAI00015;ACT64403;ACT64404;BAA24933;BAA34374;BAB93467;BAG52920;BAG54706;BAG59096;BAH14358;BAH14878;CAD38517;EAW58159;EAW58160;EAW58161;EAW58162;EAW58163;EAW58164;EAW58165;NP_000608;NP_001167596;NP_001167597;NP_001167598;NP_001167599;NP_001167600;NP_001167601;P49281 Hs.505545 1335399;1768424;1791884;1791886;1796774;1847762;2147755;2149258;2158604;2168440;2168442;2171737;2178986;2179383;2186705;5017266;5109739;5493888 A005U25;A006N48;D12S1249E;D12S1402;D12S813;G20510;L18506;PMC129447P4;PMC129447P5;RH17780;RH45071;RH47542;SHGC-33554;SHGC-35510;SLC11A2_739;Slc11a2;WI-11374;WI-22218 DCT1;DMT1;FLJ37416;NRAMP2 DMT-1;NRAMP 2;OTTHUMP00000241304;OTTHUMP00000241305;OTTHUMP00000241306;OTTHUMP00000241307;OTTHUMP00000241308;OTTHUMP00000241309;OTTHUMP00000241310;OTTHUMP00000241311;divalent cation transporter 1;natural resistance-associated macrophage protein 2;solute carrier family 11 member 2 APPROVED protein-coding ENSG00000110911 10908 02750 600523 REVIEWED 731943 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010] 15 15 q15-q21.1 46285790 46383567 + 48498498 48596275 + 1624188;1580863;6480464;7240710 8640224 7929272;19058262;18830715;18391953;17998760;17460608;16832045;16807401;16344560;15167446;14967834;14528028;12761241;12477932;12471046;11564973;11509477;9672238;9655365;8589530;19913121;20628086;12386165;18495801;19096086;19513753;20424473;9355073;9585600;20219833;20196086;20146722;22388656;20819979;22989884;21867980;21209010;21321328;21631963;21613606;23325410;22211456 6557 B4DPF4;E9PDW4;H0YKV3;H0YLJ2;H0YMG9;H0YNL0;H0YNW0;Q13621;Q8IUN5 AA917702;AB032525;AB032527;ABBA01039141;AC023355;AC066612;AJ005332;AJ005333;AK129998;AK295375;AK298275;AK298312;AMYH01006628;BC040138;BX647067;BX647484;CH471082;CS223391;DA632985;EF559316;NG_021301;NM_000338;NM_001184832;U58130 AAB07364;AAH40138;AAI48652;AAI56820;ABU69043;BAA84574;BAA84576;BAC85271;BAG58334;BAG60536;BAG60566;CAA06479;CAA06480;CAJ46935;EAW77344;EAW77345;EAW77346;NP_000329;NP_001171761;Q13621 Hs.123116;Hs.605373 1336549 D15S1024 BSC1;MGC48843;NKCC2 NKCC2A variant A;Na-K-2Cl cotransporter;OTTHUMP00000162220;bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2;kidney-specific Na-K-Cl symporter;solute carrier family 12 member 1;solute carrier family 12, member 1 APPROVED protein-coding ENSG00000074803 10910 02908 600839;601678 REVIEWED 733325 SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 q13 55456643 55504850 + 56899119 56949762 + 1580586;1580587;1580588;1580589;1580863;6480464;7240710 15824464;15956070;16221718;15480096 8528245;8670281;19489442;19207868;19033254;18580052;18496130;18469313;18391953;18362449;18287808;18270262;18263927;18067089;17997379;17981812;17975670;17954289;17885550;17873326;17654016;17653210;17460608;17329572;17159356;16887815;16688122;16505253;15915338;15309683;15102966;15069170;14766743;14675033;14655226;21051746;22406640;14578305;12686679;12515852;12477932;11893344;11832422;11564973;11076863;9596079;8954067;8812482;8125298;19913121;20628086;19420906;19451210;19668106;19779464;19875813;20031564;20379614;20889219;21415153;20675610;21164023;23156397;21644207;21644212;21852580;21631963;21753071;21613606;21196779;21987572;22027832;23505323;22009145;21161146;22679066;23482560;22627394;23079845 6559 J3QSS1;P55017 ABBA01025252;ABBA01025253;AC012181;AK223133;AK315298;AMYH01007693;AMYH01007694;BF510426;CH471092;NG_009386;NM_000339;NM_001126107;NM_001126108;U44128;X91220 AAC50355;AAI11851;CAA62613;EAW82888;EAW82889;EAW82890;EAW82891;NP_000330;NP_001119579;NP_001119580;P55017 Hs.669115 1770723;5095886 RH70938;STS-X91220 FLJ96318;NCC;NCCT;TSC Na-Cl cotransporter;Na-Cl symporter;NaCl electroneutral thiazide-sensitive cotransporter;OTTHUMP00000164385;solute carrier family 12 (sodium/chloride transporters), member 3;solute carrier family 12 member 3;solute carrier family 12, member 3;thiazide-sensitive Na-Cl cotransporter;thiazide-sensitive sodium-chloride cotransporter APPROVED protein-coding ENSG00000070915 10912 02984 263800;600968 REVIEWED 731044 SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] 20 20 q13.12 44091245 44122196 + 44650329 44688789 + 1580863;6480464 11780052;11701957;11395011;10574461;9110174;8619474;12106695;19307176;18978678;18602983;18391953;17715129;17693402;16344560;16324114;16291749;15932617;15528236;14702039;12739168;12637262;12477932;20516068;20650312;19686239;20379614;21256718;22082832;22496567;21613606;23440186;21911617 57468 B7Z3T3;Q5VZ42;Q9H2X9 AB033002;ABBA01052674;AF208159;AK055066;AK098371;AK289758;AK294059;AK295096;AK295900;AK296331;AL162458;AMYH01011940;BC036329;BC132668;BC132670;CH471077;DA102113;DC320473;NM_001134771;NM_020708;U79245 AAG43493;AAI32669;AAI32671;BAA86490;BAF82447;BAH11662;BAH11972;BAH12216;BAH12319;EAW75771;EAW75772;EAW75773;NP_001128243;NP_065759;Q9H2X9 Hs.21413 1339302;1665733;1779626;1856156;2172186;2186984;5020615 D20S1037;D20S856;G65726;RH12005;RH78814;SHGC-153603;Z94533 KCC2;KIAA1176 K-Cl cotransporter 2;OTTHUMP00000031197;electroneutral potassium-chloride cotransporter 2;erythroid K-Cl cotransporter 2;hKCC2;neuronal K-Cl cotransporter;solute carrier family 12 member 5 APPROVED protein-coding ENSG00000124140 13818 09469 606726 REVIEWED 732816 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 5 5 q23.3 127447382 127553279 + 127419483 127525380 + 1580582;1580583;1580584;1580863;6480464;6907045 15020309;12535773;16227993 18391953;8895530;12946942;18032481;7629105;19523148;19240061;19023125;18550547;18400987;17478539;16222701;15899883;15347682;15280386;14982922;14563843;12740379;12657561;12477932;12355171;12054469;11943682;11700976;11042348;10736171;9672238;8889548;8663127;20471979;20442269;16669787;19686239;19916249;20044742;20061948;20379614;21963094;22643131;23000965;23515529;20732874;21139019;22939629;22989884;20819979;20819947;23139219;16196087;21613606;21847667;22178882;21139048;21890473;21906983;21987572;22437837;22570591;23317544;22053931 6558 B7ZM24;G3XAL9;P55011;Q53ZR1 AA425438;AA425619;AA843086;AB209192;ABBA01068871;AC008577;AC011332;AF439152;AI493213;AK025062;AMYH01015604;AV708692;AY280459;BC033003;BC144221;BC146839;BM978607;CH471062;NM_001046;NM_001256461;NR_046207;U30246;Z36839 AAC50561;AAI44222;AAI46840;AAL32454;AAP33906;BAD92429;EAW62392;EAW62393;EAW62394;NP_001037;NP_001243390;P55011 Hs.162585;Hs.712970 1708974;1780622;1780640;1780930;1798162;1857245;2118227;2123709;2133692;2144499;5022450;5022578;5037552 016YB7;A006Y26;D10S275;D1S1423;D8S2279;SGC32885;SGC35509;SHGC-79547;SLC12A2_2056;STS-N22107;bac51423S;bac51488T;bac5341T BSC;BSC2;MGC104233;NKCC1 OTTHUMP00000159234;OTTHUMP00000223462;OTTHUMP00000223463;basolateral Na-K-Cl symporter;bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1;solute carrier family 12 member 2;solute carrier family 12, member 2 APPROVED protein-coding ENSG00000064651 10911 06775 600840 REVIEWED 1322734 SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] 15 15 q13 32309489 32417557 - 34522197 34630265 - 1580594;1580863;6480464;7240710 16606917 10187864;19058789;18566107;18536702;18391953;18006853;17893295;17133354;16098236;16048901;15262997;12657561;12637262;12477932;12368912;11551954;10600773;10347194;12386165;19665974;20020398;20301546;21733850;21628467;22423107;21613606;21906983;21890473;21963094;21987572 9990 B3KXX3;H0YKE6;H0YKJ2;H0YKL8;H0YKQ8;H0YMQ9;H0YNJ5;Q6NSI7;Q9Y665 ABBA01038539;ABBA01038540;ABBA01038541;ABBA01038542;AC021822;AC079203;AF105366;AF108831;AF116242;AF314931;AF314932;AF314933;AF314934;AF314935;AF314936;AF314937;AF314938;AF314939;AF314940;AF314941;AF314942;AF314943;AF314944;AF314945;AF314946;AF314947;AF314948;AF314949;AF314950;AF314951;AF314952;AF314953;AF314954;AF314955;AF314956;AF477977;AF531258;AF531259;AF531260;AK128133;AK292550;AK315283;AL117500;AMYH01006511;BC033894;BC051709;BC051744;BC070107;BC126241;BC126243;BC150584;BX648195;CH471125;DQ138323;NG_007951;NM_001042494;NM_001042495;NM_001042496;NM_001042497;NM_005135;NM_133647 AAD25337;AAD39742;AAF24986;AAH51744;AAH70107;AAI26242;AAI26244;AAI50585;AAL85335;AAM96215;AAM96216;AAQ10026;AAQ10027;AAQ10028;ABA02873;BAF85239;BAG37692;BAG54635;CAB55965;CAI46042;EAW92295;EAW92296;EAW92297;EAW92298;EAW92299;EAW92300;EAW92301;EAW92302;NP_001035959;NP_001035960;NP_001035961;NP_001035962;NP_005126;NP_598408;Q9UHW9 Hs.510939 1655336;1687061;2115898;2144111;5015619;5015961;5016596;5021872;5037552 D11S3114;D15S1477;D8S2279;GDB:631802;RH46282;SHGC-53908;SHGC-57948;STS-M55683;sY3084 ACCPN;DKFZp434D2135;KCC3;KCC3A;KCC3B K-Cl cotransporter 3;OTTHUMP00000159813;electroneutral potassium-chloride cotransporter 3;potassium chloride cotransporter 3;potassium chloride cotransporter KCC3a-S3;potassium-chloride transporter-3a;potassium-chloride transporter-3b;solute carrier family 12 member 6 APPROVED protein-coding 10914 09220 218000;604878 REVIEWED 1345509 SLC12A8 solute carrier family 12, member 8 This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010] 3 3 3 q21.2 123208830 123340801 - 126284170 126414299 - 124801480 124931609 - 737840;6480464 11863360 19472210;16344560;16297188;12739168;12477932;7566098;20379614;23325410 84561 C9IZN2;F8W7X1;H7C5B1;H7C5L2;Q8WUI3 AA331231;AA593021;ABBA01016427;ABBA01016428;ABBA01016429;ABBA01016430;AC055752;AC108688;AC117488;AF345197;AF389851;AF390442;AK026841;AK123001;AK308484;AMYH01013441;BC020506;BC063528;BC126158;BC126160;BG149722;BX538023;CH471052;CR457363;DA858738;NG_027706;NM_001195483;NM_024628 A0AV02;AAH20506;AAH63528;AAI26159;AAI26161;AAK94307;AAM73657;AAO49174;ADR83103;BAB15571;BAG53843;CAD97969;CAG33644;EAW79399;EAW79400;NP_001182412;NP_078904 Hs.658514 1334773;1338556;1338933;1342363;1662267;1728481;1759457;1766963;1779274;1779764;2127746;2161148;2171752;5015861;5017227;5093704;7183415;7185938 A009V17;D10S16;D3S1551;D3S3569;D3S3573;D3S3636;G32875;G38154;G63678;RH48858;SHGC-151007;SHGC-151248;SHGC-152496;SHGC-153741;SHGC-58257;SHGC-77287 CCC9;DKFZp686L18248;FLJ23188 OTTHUMP00000215536;OTTHUMP00000215625;cation-chloride cotransporter 9;solute carrier family 12 (sodium/potassium/chloride transporters), member 8;solute carrier family 12 member 8;solute carrier family 12, member 8 APPROVED protein-coding ENSG00000221955 15595 11563 611316 REVIEWED 736767 SLC12A4 solute carrier family 12 (potassium/chloride transporter), member 4 This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 16 16 q22.1 66535731 66560026 - 67977377 68002597 - 729801;1580863;6480464 8663127 12477932;9516379;19317253;18391953;15489334;15262997;15231748;15039017;14976052;14702039;12902337;12637262;11551954;10564083;8268911;19913121;20602615;20628086;21139048;21890473;21906983;21987572;21733850;21666489;21613606;12739168;16943364;22939629;23177987;21963094;23000965;23503679 6560 B4DF30;I3L1N8;I3L4N6;J3QKM4;J3QRE2;J3QSF2;O60632 ABBA01025467;ABBA01025468;AC040162;AF047338;AF053402;AF054505;AF054506;AI368074;AK026911;AK097808;AK293906;AK293956;AK299042;AK302790;AK310027;AK311073;AK316415;AMYH01007754;AY026038;AY211326;BC021193;BC035480;CF272417;CH471092;DC321966;DC333904;DC402650;NG_033098;NM_001145961;NM_001145962;NM_001145963;NM_001145964;NM_005072;U55054 AAC32815;AAC35282;AAC39684;AAC39685;AAC50563;AAH21193;AAK01946;AAO83657;ABM83180;ABM86383;BAG53532;BAG57291;BAG57330;BAG61116;BAG63994;BAH14786;EAW83191;EAW83192;EAW83193;EAW83194;EAW83195;EAW83196;NP_001139433;NP_001139434;NP_001139435;NP_001139436;NP_005063;Q9UP95 Hs.10094 1677604;1776732;1798164;2131133;2152975;5017528;5020635;5021682;5120955 D7S3207;RH44404;RH70236;RH70676;RH77895;RH79953;SLC12A4;SLC12A4_2007;ksks15 FLJ17069;FLJ40489;KCC1 K-Cl cotransporter;OTTHUMP00000174837;electroneutral potassium-chloride cotransporter 1;erythroid K-Cl cotransporter 1;erythroid K:Cl cotransporter;hKCC1;potassium/chloride cotransporter 1;solute carrier family 12 member 4;solute carrier family 12, member 4 APPROVED protein-coding ENSG00000124067 10913 04987 604119 REVIEWED 1346909 SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 7 7 7 q31.32 117558028 117644480 - 122540824 122627261 - 122753588 122840025 - 1580863;6480464 19401682;16211368;14702039;12867358;12857732;12853948;12690205;12477932;11161786;20670164 6561 A4D0X1;F5GYP1;F8WEH1;F8WEM4;Q9BZW2 AACC02000001;ABBA01057738;ABBA01057739;AC073054;AC091319;AF260824;AI209074;AI469201;AK026413;AK314537;AMYH01017902;BC111775;CH236947;CH471070;NM_022444 AAG60583;AAI11776;AAI40318;AAI48687;AAS01993;AAS01997;BAB15477;BAG37127;EAL24337;EAW83582;NP_071889;Q9BZW2 Hs.489849 1337001;1699692;1796776;2161169;7186729 D7S490;RH103451;SLC13A1_743;WI-10596 NAS1;NaSi-1 Na(+)/sulfate cotransporter;OTTHUMP00000211446;hNaSi-1;renal sodium/sulfate cotransporter;solute carrier family 13 (sodium/sulphate symporters), member 1;solute carrier family 13 member 1 APPROVED protein-coding ENSG00000081800 10916 08394 606193 VALIDATED 1348814 SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7 5 5 p15 1103489 1165172 - 1050489 1112172 - 1580863;6480464 10347194;18984587;18391953;17133354;15489334;15262997;14702039;14698746;12637262;12477932;11976689;11214971;10913127;20516068;19887603;20734064;21760919;21733850;21613606;21987572;21139048;21890473;21906983;23000965 10723 H0YB78;Q9Y666 ABBA01034217;ABBA01034218;AC116351;AF105365;AK024493;AK024497;AK026625;AK302856;AL117433;AMYH01014850;AMYH01014851;BC007760;BC018982;BC098390;BU953746;CH471102;CQ859788;DB451347;NM_006598 AAD39741;AAH07760;AAH98390;BAB15783;BAB15787;BAG64042;CAB55921;CAH25944;EAX08178;EAX08179;EAX08180;EAX08181;NP_006589;Q9Y666 Hs.172613 1770034 RH11663 DKFZp434F076;KCC4 K-Cl cotransporter 4;OTTHUMP00000220873;electroneutral potassium-chloride cotransporter 4;potassium/chloride transporter KCC4;solute carrier family 12 member 7 APPROVED protein-coding ENSG00000113504 10915 09221 604879 VALIDATED 1347947 SLC12A9 solute carrier family 12, member 9 7 7 7 q22 95180919 95195211 + 100288294 100302569 + 100450341 100464634 + 6480464 14702039;12690205;12477932;11239002;11060040;10871601;20639392;21347282;21139048;21890473;21906983;16344560;22990020;23325410 56996 C9J0I5;C9JBD8;C9JMQ7;F8WEK3;Q9H7I6;Q9NQR5 AA825567;AB033284;ABBA01013177;AC011895;AF284422;AF312032;AK024420;AK024421;AK024466;AK024494;AK026624;AK090458;AK128873;AK301411;AMYH01017745;BC000154;BG818005;BI554206;BM921877;BU625109;CA488831;CH236956;CH471091;DA816969;DA982886;NM_001267812;NM_001267814;NM_020246 AAF88060;AAH00154;AAK21008;AAK21009;BAB15710;BAB15711;BAB15756;BAB15784;BAB40456;BAC03439;BAH13476;EAL23818;EAW76475;EAW76476;EAW76477;EAW76478;EAW76479;EAW76480;EAW76481;EAW76482;EAW76483;EAW76484;EAW76485;EAW76486;NP_001254741;NP_001254743;NP_064631;Q9BXP2 Hs.521087 1659990;5014063;5015861;5022200;5022578;5022651;5037552;5112143;7185938 D10S16;D11S2921;D15S1390;D1S1423;D7S2888;D8S2279;L18426;RH101934 CCC6;CIP1;FLJ46905;WO3.3;hCCC6 CCC-interacting protein 1;OTTHUMP00000209114;OTTHUMP00000209115;WO3.3;cation-chloride cotransporter 6;cation-chloride cotransporter-interacting protein 1;hCCC6;hCIP1;potassium-chloride transporter 9;solute carrier family 12 member 9 APPROVED protein-coding ENSG00000146828 17435 11564 VALIDATED 1345589 SLC13A4 solute carrier family 13 (sodium/sulfate symporter), member 4 7 7 7 q33 130103444 130150391 - 135016525 135063473 - 135365985 135412933 - 1580863;6480464 10535998;16211368;15607730;12690205;12477932;20379614;23485456 26266 Q59HF0;Q9UKG4 AACC02000025;AB208809;ABBA01001125;ABBA01001126;AC091736;AF169301;AK313072;AMYH01017959;BC030689;BC040872;CH236950;CH471070;NM_012450 AAF05907;AAH30689;ABM84484;ABM84966;BAD92046;EAL24058;EAW83857;EAW83858;NP_036582;Q9UKG4 Hs.200022;Hs.490241 1663452;1688905;1857879;2133808;2160915;5016781;5092712 A005R34;D7S2118E;D7S2867;G32281;RH46984;RH92554;SHGC-67307 SUT-1;SUT1 Na(+)/sulfate cotransporter SUT-1;OTTHUMP00000208203;naS2;solute carrier family 13 (sodium/sulphate symporters), member 4;solute carrier family 13 member 4;sulphate transporter 1 APPROVED protein-coding ENSG00000164707 15827 10372 604309 VALIDATED 736607 SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 17 17 p13.2 23824791 23848514 + 26800664 26824799 + 1580863;6480464 8967342;18161988;17470169;16344560;16211368;15774465;15620109;15489334;14702039;12477932;12445824;10343111;20610529;20424473;21257749 9058 F5GWV6;G3V1L2;J3QLA5;J3QR70;Q13183 ABBA01015054;ABBA01015055;AC015917;AK091926;AK298388;AK303909;AK303936;AK314684;AMYH01008279;AW024214;BC096276;BC096277;BC096278;BC096279;CH471159;DB204108;DB320886;NM_001145975;NM_003984;NR_027384;U26209 AAA98504;AAH96276;AAH96277;AAH96278;AAH96279;BAG37236;BAG52442;BAG60623;BAG64838;BAG64864;EAW51090;EAW51091;NP_001139447;NP_003975;Q13183 Hs.102307 1679505 RH71217 NADC1;NaCT;NaDC-1;SDCT1 Na(+)-coupled citrate transporter;Na(+)/dicarboxylate cotransporter 1;OTTHUMP00000163347;renal sodium/dicarboxylate cotransporter;solute carrier family 13 member 2 protein-coding ENSG00000007216 10917 09164 604148 VALIDATED 69657 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008] 20 20 q13.12 44619870 44746514 - 45186462 45313124 - 1580863;6480464 15146197;15342556;16344560;18602983;16331647;16211368;15561973;15489334;14702039;12915942;12477932;11780052;10992006;10794676;18029348;20813124;21865262;21873665 64849 B4DF27;B4E181;C9J4A3;C9J7L4;F6WI18;H7C0C8;Q8N8K4 ABBA01052680;ABBA01052681;ABBA01052682;ABBA01052683;AF154121;AK056713;AK096658;AK123351;AK293902;AK295748;AK303709;AK310767;AK310960;AK315131;AL034424;AL133520;AL442082;AMYH01011944;AY072810;BC014931;BC035966;BM474324;BP358260;BQ946167;CB997336;CH471077;CN310376;DA272524;DA334816;DA503319;DA636764;NM_001011554;NM_001193339;NM_001193340;NM_001193342;NM_022829 AAF73251;AAH35966;AAL66762;ABM83581;ABM86820;BAB71262;BAC04834;BAG57288;BAG58580;BAG64693;CAC09447;EAW75725;EAW75726;NP_001011554;NP_001180268;NP_001180269;NP_001180271;NP_073740;Q8WWT9 Hs.655498 1341518;1685780;1688267;1694636;1759653;2116771;2126246;2129400;2136607;2143404;2149018;2153107;2153292;2179668;2180943;2186822 A004V36;AFMB305XD9;AL031467;D20S1114;D20S565E;D20S577E;D20S886;D20S957;G27374;G43492;RH45751;RH66073;RH79978;RH98928;SHGC-150948;WI-14322 NADC3;SDCT2 Na(+)/dicarboxylate cotransporter 3;OTTHUMP00000031667;OTTHUMP00000214796;OTTHUMP00000214797;OTTHUMP00000214798;hNaDC3;naDC-3;sodium-dependent high affinity dicarboxylate transporter 3;sodium-dependent high-affinity dicarboxylate transporter 2;solute carrier family 13 member 3 APPROVED protein-coding ENSG00000158296 14430 10450 606411 REVIEWED 731952 SLC14A2 solute carrier family 14 (urea transporter), member 2 The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] 18 18 q12.1-q21.1 41448764 41517070 + 42792947 43263072 + 1580863;6480464 17702749;8647271;17344938;17264986;16480766;15189812;12952854;12477932;11590132;11502588;11399654;7989337;22797727;20139978;19260141;20379614;21102462;20797394;22693459;16344560;21909109 8170 E7EPU1;Q15849 ABBA01022336;ABBA01022337;ABBA01022338;ABBA01022339;ABBA01022340;AC021517;AC021810;AC023421;AC090376;AC091151;AF349446;AK074236;AK122698;AK292422;AMYH01008970;BC110445;BC110446;CH471088;DB045789;DR002593;NM_001242692;NM_007163 AAI10447;AAL08485;BAB85026;BAF85111;EAX01454;EAX01455;NP_001229621;NP_009094;Q15849 Hs.710927 1671860;1779568;1779958;1783674;1783706;5015619;5021872;5021984;5022200;5037552 D11S3114;D8S2279;L18426;RH66547;SHGC-144943;SHGC-153540;SHGC-154202;SHGC-154458;contig_177348;sY3084 FLJ16167;HUT2;MGC119566;MGC119567;UT-A2;UT2;UTA;UTR;hUT-A6 OTTHUMP00000163451;solute carrier family 14 member 2;solute carrier family 14, member 2;urea transporter 2;urea transporter, kidney;urea transporter-2 APPROVED protein-coding ENSG00000132874 10919 03366 601611 VALIDATED 2302456 SLC15A5 solute carrier family 15, member 5 12 12 12 p12.3 21486383 21574381 - 16233869 16321886 - 16341419 16430619 - 6480464 16541075;22589738;21044875 729025 A6NIM6 ABBA01067897;AC073574;AMYH01004304;NM_001170798 A6NIM6;NP_001164269 Hs.692712 1725893;2114972 G62282;RH65784 OTTHUMP00000239482;Peptide/histidine transporter ENSP00000340402;solute carrier family 15 member 5 protein-coding ENSG00000188991 33455 PROVISIONAL 1351292 SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[supplied by OMIM, Apr 2004] 17 17 17 p13.1 6613818 6642517 - 6528762 6557388 - 6588038 6616740 - 6480464 16973915;16344560;16211368;15489334;14702039;12826022;12477932;12445824;20379614;22566634 284111 B3KXR0;F8W7N2;I3L2Y7;I3L424;I3L4S9;I3L4V4;I3L4X6;K7END6;Q86YT5 ABBA01054838;AC004706;AJ489980;AK127797;AK131206;AK172779;AK172785;AK297612;AMYH01008061;AY151833;BC104795;BC112151;BC143689;CH471108;CR749584;DA187094;NM_001143838;NM_177550 AAI04796;AAI12152;AAI43690;AAN86530;BAD18760;BAD18766;BAG54572;BAH12628;CAD34590;CAH18382;EAW90292;EAW90293;EAW90294;EAW90295;NP_001137310;NP_808218;Q86YT5 Hs.399496 1688016;2131789;2189387;5022651 D11S2921;MARC_3679-3680:991937315:1;RH46267;WI-18574 DKFZp686E17257;MGC138356;NACT Na(+)/citrate cotransporter;OTTHUMP00000128226;sodium-coupled citrate transporter;sodium-dependent citrate transporter;solute carrier family 13 member 5;solute carrier family 13, member 5 APPROVED protein-coding ENSG00000141485 23089 10512 608305 VALIDATED 1354455 SLC14A1 solute carrier family 14 (urea transporter), member 1 The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009] 18 18 q11-q12 41558155 41585297 + 43304092 43332485 + 1580863;6480464 11435423;7797558;7989337;19175544;18997004;18713105;18510579;18067501;16344560;15783300;15754970;14985236;14702039;12477932;12093813;11852461;11841450;11807016;10942407;10644814;10514515;9734652;9582331;9215669;8647271;8573795;2890568;21309779;20560530;19926813;20379614;20424473;20431033;21750109;21824976;22223368;22733730;22738189 6563 B3KXJ3;B4DFJ8;E9NSU1;F5GWS2;G0W2N5;K7EJ54;K7EJF6;K7EKN6;K7EL30;K7ELI3;K7EQM7;K7ESL3;M0QX00;M0QYS8;Q13336 ABBA01022335;AC023421;AF046026;AF328890;AF328892;AJ316564;AK091064;AK123681;AK127452;AK289608;AK294129;AK295268;AMYH01008970;AU134365;AV724913;AY942197;BC040128;BC050539;CH471088;DA051199;DA134800;DA186606;DA473671;GQ502682;HE577851;HQ709264;L36121;NG_011775;NM_001128588;NM_001146036;NM_001146037;NM_015865;U35735;Y19039 AAB00181;AAC69610;AAH50539;AAL37474;AAX20112;ACV91713;ADW41579;BAF82297;BAG52274;BAG53935;BAG54505;BAG57459;BAG58255;CAB60834;CAC86943;CCD04138;EAX01458;EAX01459;NP_001122060;NP_001139508;NP_001139509;NP_056949;Q13336 Hs.101307 1721277;1734544;1756615;1849562;2181091;5094232 D18S899E;G54655;G59635;RH16293;SHGC-143656;SHGC-32575 FLJ33745;FLJ41687;HUT11;HsT1341;JK;RACH1;RACH2;UT-B1;UT1;UTE Kidd blood group;OTTHUMP00000163453;SLC14A1 JK;blood group Kidd urea transporter;solute carrier family 14 member 1;truncated urea transporter;urea transporter 1;urea transporter JK glycoprotein;urea transporter, erythrocyte;urea transporter-B1 APPROVED protein-coding ENSG00000141469 10918 00195 111000;613868 REVIEWED 730868 SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010] 13 13 q32.3 98134057 98202909 - 99336055 99404929 - 1580863;6480464 16181611;9299407;22779445;7896779;19343046;19246733;19144638;18713951;18668438;18466105;18336632;18094991;18028524;17562024;17407174;17009102;16963449;16627568;16568107;16328452;16283203;16253763;16198124;15981923;15974593;15832510;15832502;15802293;15623827;15521010;15489334;15057823;14725353;14561585;14532279;12905028;12788085;12679938;12649372;12548404;12477932;11944083;11897620;9508831;9458100;20558765;9207295;9115234;7592745;15553237;19389806;19439487;19462432;19549526;19685173;20067523;20104847;20379614;20424473;20430871;21030610;22610502;22959800;21366347;21762661;23494121 6564 B2CQT6;P46059;Q9BZ22 AB001328;ABBA01027134;ABBA01027135;ABBA01027136;AF043233;AL353574;AL391670;AL708816;AMYH01005323;AMYH01005324;AW449979;AY634368;BC096327;BC096328;BC096329;BC099651;CH471085;CU445953;EU544224;NG_017032;NM_005073;U13173;U21936 AAA63797;AAB61693;AAC15477;AAH96327;AAH96328;AAH96329;AAT48121;ACB71122;BAA22632;EAX08991;EAX08992;EAX08993;NP_005064;P46059 Hs.436893 1737467;1758053;1769035;1792214;1792216;1792218;1792220;1792222;1792224;1792226;1792228;1792236;1792244;1792246;1792248;1792250;1792252;1792254;1792256;1796778;5022200;5037552 D13S1019;D8S2279;L18426;PMC140024P1;PMC140024P10;PMC140024P11;PMC140024P12;PMC140024P13;PMC140024P14;PMC140024P15;PMC140024P16;PMC140024P2;PMC140024P3;PMC140024P4;PMC140024P5;PMC140024P6;PMC140024P7;PMC140024P8;PMC140024P9;RH70582;SHGC-147222;SLC15A1_722 HPECT1;HPEPT1;PEPT1 Caco-2 oligopeptide transporter;OTTHUMP00000018599;intestinal H+/peptide cotransporter;macrophage oligopeptide transporter PEPT1;oligopeptide transporter, small intestine isoform;peptide transporter 1;solute carrier family 15 member 1 APPROVED protein-coding ENSG00000088386 10920 02768 600544 REVIEWED 1348958 SLC15A3 solute carrier family 15 (oligopeptide transporter), member 3 11 11 11 q12.2 58065442 58080124 - 60461134 60475833 - 60704555 60719257 - 633591;1580863;6480464 11336635 12905028;12477932;11741232;8889548;21103663;21366347 51296 F5GZ36;F5H1C8;F5H251;H0YFC1;H0YG40;Q8IY34 AB020598;ABBA01021517;AF135600;AK127216;AMYH01003668;AP003721;BC025710;BC037974;BU731752;CH471076;NM_016582;NR_027391 AAH25710;AAH37974;AAQ13565;BAA93432;EAW73915;EAW73916;NP_057666;Q8IY34 Hs.237856 1754431;1853099;1853101;2111222 D11S1383;SHGC-132491;SHGC-33247;SHGC-36506 FLJ26631;OCTP;PHT2;PTR3 OTTHUMP00000236906;OTTHUMP00000236907;osteoclast transporter;peptide transporter 3;peptide/histidine transporter 2;solute carrier family 15 member 3 APPROVED protein-coding ENSG00000110446 18068 11565 610408 VALIDATED 731699 SLC15A2 solute carrier family 15 (oligopeptide transporter), member 2 The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011] 3 3 q13.33 123095977 123143148 + 121613171 121663034 + 1580863;6480464 7756356;16738539;19343046;19246733;19240061;18766334;18762712;18713951;18668438;18474668;18367661;15981923;15626774;15282265;15020234;14702039;12905028;12579467;12477932;12388627;11944083;8889548;20406817;15553237;19723536;19898482;20067523;20173083;20424473;20868728;21366347;21327641;21833088 6565 C9IZ38;Q16348 ABBA01016475;ABBA01016476;AC072031;AK090726;AK289820;AK296895;AK302002;AK304189;AMYH01013427;AMYH01013428;BC020743;BC038445;BC044572;CB242692;CH471052;DC418197;NM_001145998;NM_021082;S78203 AAB34388;AAH20743;AAH44572;BAF82509;BAG59454;BAG63405;BAG65069;EAW79496;NP_001139470;NP_066568;Q16348 Hs.518089 1660463;1764217;1784820;1852543;2175110;2187026;5017227;5022578 D1S1423;D3S3498;G38154;RH12677;SHGC-147851;SHGC-155332;SHGC-63664;SHGC-77261 FLJ33407;PEPT2 OTTHUMP00000215240;OTTHUMP00000215241;kidney H(+)/peptide cotransporter;oligopeptide transporter, kidney isoform;peptide transporter 2;solute carrier family 15 member 2 APPROVED protein-coding ENSG00000163406 10921 09088 602339 VALIDATED 733038 SLC15A4 solute carrier family 15 (oligopeptide transporter), member 4 12 12 12 q24.32 128891861 128922740 - 127843713 127874494 - 129277739 129308541 - 1580863;6480464 18259684;16289537;14702039;12905028;12477932;11741232;19838193;20379614;20516000;21366347;21693764;21890473;21906983;21963094;23000965;23273568;23362303;22505724 121260 B6ZDF2;F5GZQ7;H7BYB7;Q8N697 ABBA01019769;AC108704;AF461893;AK095717;AMYH01004870;AY038999;AY050629;BC028394;BC146803;CH471054;NM_145648 AAH28394;AAI46804;AAK72099;AAK95565;AAQ04807;BAG53113;EAW98494;EAW98495;NP_663623;Q8N697 Hs.507260 1697604;1848819;2140427 RH102313;SGC30248;SGC31722 FP12591;PHT1;PTR4 OTTHUMP00000238743;hPHT1;peptide transporter 4;peptide-histidine transporter 4;peptide/histidine transporter;peptide/histidine transporter 1;solute carrier family 15 member 4 APPROVED protein-coding ENSG00000139370 23090 VALIDATED 6480419 SLC16A14P1 solute carrier family 16, member 14 pseudogene 1 8 q23.1 107227993 107229533 + 100128685 ABBA01037683;AC027031;AC129928;AMYH01018951;NG_022428 1704260;1709346 SHGC-81671;SHGC-83265 APPROVED pseudo 43809 INFERRED 7247677 SLC16A1P1 SLC16A1 pseudogene 1 100422547 AACC02000107;ABBA01000975;AC004853;AMYH01018073;CH236959;NG_026644 pseudo 48931 INFERRED 1322416 SLC16A11 solute carrier family 16, member 11 17 17 17 p13.1 6970509 6972802 - 6885673 6887966 - 6944949 6947242 - 1580863;6480464 12477932;16303743;12739169 162515 C9JRM8;I3L431;Q8NCK7 ABBA01054846;AC040977;AK074674;AMYH01008066;BC093860;BC093886;BC143369;CH471108;CQ783564;NM_153357 AAH93860;AAH93886;BAC11128;CAF86732;EAW90268;EAW90269;EAW90270;NP_699188;Q8NCK7 Hs.336564 FLJ90193;MCT11 MCT 11;OTTHUMP00000128280;monocarboxylate transporter 11;monocarboxylic acid transporter 11;solute carrier family 16 (monocarboxylic acid transporters), member 11;solute carrier family 16 member 11 APPROVED protein-coding ENSG00000174326 23093 11567 VALIDATED 731538 SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10 SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004] 6 6 6 q21-q22 112155354 112291161 + 111515502 111650907 + 111408781 111544608 + 1580863;6480464 11278508;15918515;18337592;12739169;12477932;11827462;11278976;21508134;18195088;20167367;21315799;21486766;21890473;21906983;21886157;22286219 117247 H0Y3W8;H0Y5M8;Q8TF71;Q9P1I2 AB057445;ABBA01026094;ABBA01026095;ABBA01026096;ABBA01026097;AF116652;AK126183;AK172789;AL360227;AMYH01016591;BC017968;BC034031;BC066985;CH471051;NM_018593 AAF71072;AAH17968;AAH34031;AAH66985;BAB84670;BAD18768;BAG54292;EAW48298;EAW48299;NP_061063;Q8TF71 Hs.591327 1717049;1796780;2125153;2160205 EV4Pm;RH124087;SLC16A10_831;STS-N30257 MCT10;PRO0813;TAT1 MCT 10;OTTHUMP00000017017;T-type amino acid transporter 1;aromatic amino acid transporter 1;monocarboxylate transporter 10;solute carrier family 16 (monocarboxylic acid transporters), member 10;solute carrier family 16 member 10;solute carrier family 16, member 10 APPROVED protein-coding ENSG00000112394 17027 09613 607550 VALIDATED 737451 SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012] X X q13.2 73557810 73670475 + 73641328 73753764 + 1304408;1599329;1580863;6480464;7240710 12871948;15980113 9425115;7981683;19641107;19439506;19194886;19022891;18710470;18687783;18636565;18398436;18337592;18187543;17684393;17356046;17081983;16957765;16887882;15889350;15834651;15661862;15488219;14661163;12739169;9545634;9110174;8619474;7829101;20628049;19648159;19797118;20167367;20373986;20660035;19811520;20301789;20705735;21486766;21208750;21315799;21813593;21415082;15146197;22924588;23546606 6567 K7ELT4;P36021 AA205401;AB085789;ABBA01059546;ABBA01059547;ABBA01059548;ABBA01059549;ABBA01059550;ABBA01059551;ABBA01059552;ABBA01059553;ABBA01059554;ABBA01059555;ABBA01059556;ABBA01059557;ABBA01059558;ABBA01059559;ABBA01059560;ABBA01059561;ABBA01059562;ABBA01059563;ABBA01059564;AC004073;AF055025;AK308542;AL157934;AMYH01022615;AW022421;CH471104;CN342861;NG_011641;NM_006517;U05315;U05316;U05321 AAB60374;AAB60375;AAI56063;AAI56881;BAC76827;EAW98644;EAW98645;NP_006508;P36021 Hs.75317 1702004;1702072;1796784;2124408;2147708;7183971;7186402 DXS128;DXS7738;GDB:600880;RH70539;SLC16A2_396 AHDS;DXS128;DXS128E;MCT 7;MCT 8;MCT7;MCT8;MRX22;XPCT OTTHUMP00000023573;X-linked PEST-containing transporter;monocarboxylate transporter 7;monocarboxylate transporter 8;solute carrier family 16 member 2;solute carrier family 16, member 2 (monocarboxylic acid transporter 8) APPROVED protein-coding ENSG00000147100 10923 02106 300095;300523 REVIEWED 1606094 SLC16A12 solute carrier family 16, member 12 This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010] 10 10 10 q23.31 84936860 85042126 - 91180036 91285293 - 91190051 91295313 - 6480464;7240710 18304496;12739169;12477932;16385451;20181839 387700 E9PPP4;E9PSF9;Q6ZSM3 ABBA01021946;ABBA01021947;ABBA01021948;AK124901;AK127303;AL353146;AL355342;AMYH01002934;BC086873;CB068043;CH471066;CR936657;NG_021179;NM_213606 AAH86873;AAI72347;BAC85987;BAC86925;EAW50134;NP_998771;Q6ZSM3 Hs.530338 1341921;1658018;1738033;1782100 D10S1143;D11S3652;G17552;SHGC-154739 CJMG;DKFZp686E188;MCT12 OTTHUMP00000020064;monocarboxylate transporter 12;monocarboxylic acid transporter 12 APPROVED protein-coding ENSG00000152779 23094 17365 611910;612018 VALIDATED 1354212 SLC16A13 solute carrier family 16, member 13 17 17 17 p13.1 6964936 6968991 + 6880426 6884005 + 6939394 6943440 + 6480464 12739169;12477932;21906983 201232 Q7RTY0 ABBA01054846;AC040977;AMYH01008065;BC109286;BC131739;BC142618;BN000145;CH471108;NM_201566 AAI09287;AAI31740;AAI42619;CAD80156;EAW90272;NP_963860;Q7RTY0 Hs.448010 MCT13 MCT 13;OTTHUMP00000128282;monocarboxylate transporter 13;monocarboxylic acid transporter 13;solute carrier family 16 (monocarboxylic acid transporters), member 13;solute carrier family 16 member 13 APPROVED protein-coding ENSG00000174327 31037 18054 VALIDATED 7247660 SLC16A6P1 SLC16A6 pseudogene 1 440459 ABBA01029054;ABBA01029055;AC037487;AMYH01008570;NG_012727 pseudo 48932 INFERRED 1320146 SLC16A14 solute carrier family 16, member 14 2 2 2 q36.3 224675617 224709637 - 230607942 230641863 - 230899690 230933715 - 6480464 14702039;12739169;12477932;16344560 151473 C9JIV1;C9JME4;E7EMG7;Q6ZWE5;Q7RTX9 ABBA01050131;ABBA01050132;ABBA01050133;ABBA01050134;AC093171;AK055317;AK055356;AK123207;AK292873;AL833470;AMYH01011549;BC034382;BC065524;BN000146;BX093330;BX648181;CH471063;DA044472;NM_152527 AAH34382;AAH65524;AAY24109;BAB70909;BAC85558;BAF85562;BAG51499;CAD80157;EAW70913;EAW70914;NP_689740;Q7RTX9 Hs.504317 1338074;1766987;2111137 D2S2317;D2S247E;SHGC-152545 FLJ30794;MCT14 MCT 14;OTTHUMP00000164266;OTTHUMP00000204389;OTTHUMP00000204390;monocarboxylate transporter 14;monocarboxylic acid transporter 14;solute carrier family 16 (monocarboxylic acid transporters), member 14;solute carrier family 16 member 14 APPROVED protein-coding ENSG00000163053 26417 15347 VALIDATED 1348929 SLC16A4 solute carrier family 16, member 4 1 1 p13.3 110707028 110735159 - 110905473 110933704 - 724632;1580863;6480464 9425115 19073896;18832090;18635880;18188595;18079261;18056982;17082373;16710414;16452478;16408234;16403666;15917240;15135232;14724187;12739169;12657613;12477932;11101640;10510291;10329977;8125298;10921872;15342556;22240841;20658178;19876643;20454640;20035863;21306479;23258846;21558814;21787388;21870331;21930917;19322201;22153830;22362593;23187830 9122 E9PKZ1;E9PRV1;H0YEG4;Q8WU09 ABBA01068390;ABBA01068391;AI245349;AK129985;AK223307;AK290720;AK295946;AK298539;AK313735;AL355488;AL833619;AMYH01000943;BC021664;BE893159;BP345760;BX647948;CH471122;NM_001201546;NM_001201547;NM_001201548;NM_001201549;NM_004696;U59185 AAB72035;AAH21664;BAD97027;BAF83409;BAG36476;BAG58729;BAG60739;EAW56443;EAW56444;EAW56445;EAW56446;NP_001188475;NP_001188476;NP_001188477;NP_001188478;NP_004687;O15374 Hs.351306 1664926;1755473;1765569;1787632;1849204;1849206;5037552 A006B12;AL009866;D8S2279;G20671;SHGC-142339;SHGC-149033;SHGC-155999 MCT4;MCT5 MCT 4;MCT 5;OTTHUMP00000013008;OTTHUMP00000013284;OTTHUMP00000229648;monocarboxylate transporter 4;monocarboxylate transporter 5;solute carrier family 16 (monocarboxylic acid transporters), member 4;solute carrier family 16 member 4 APPROVED protein-coding ENSG00000168679 10925 04855 603878 VALIDATED 736227 SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010] 22 22 22 q12.3-q13.2 22275893 22280919 - 36804090 36809116 - 38474144 38479170 - 1580863;6480464 10493836;12739169;12657613;10591208;8889548;16169070;15917240;20424473;7273846;23455636 23539 B0QYL4;O95907 ABBA01055502;AF132610;AF132611;AL031587;AMYH01012758;BM709138;BM714896;BM714916;CH471095;NM_013356 AAF03489;AAF03565;AAI56247;AAI57027;EAW60214;EAW60215;NP_037488;O95907 Hs.745256 1754415;2216960;2218808 SHGC-132435;SLC16A8_4325;UniSTS:461936 MCT3;REMP MCT 3;OTTHUMP00000199351;monocarboxylate transporter 3;solute carrier 16 (monocarboxylic acid transporters), member 8;solute carrier family 16 member 8;solute carrier family 16, member 8 (monocarboxylic acid transporter 3) APPROVED protein-coding ENSG00000100156 16270 11568 610409 VALIDATED 1343675 SLC16A6 solute carrier family 16, member 6 17 17 17 q24.2 62834768 62859018 - 63775933 63799002 - 66263167 66287405 - 724632;1580863;6480464 9425115 17081983;16174808;12739169;12477932;10510291;21963094;19322201 9120 J3KS02;J3KTN2;O15403 ABBA01028963;AC005332;AK290417;AK313121;AMYH01008588;AMYH01008589;AX750581;BC064832;BC127749;BC127750;BC141962;BC150547;BC150548;CH471099;NG_032814;NM_001174166;NM_004694;U79745 AAC52014;AAH64832;AAI27750;AAI27751;AAI41963;AAI50548;AAI50549;BAF83106;CAD99143;EAW89052;EAW89053;EAW89054;NP_001167637;NP_004685;O15403 Hs.42645 1796786;2173350 SLC16A6_835;STS-N33189 MCT6;MCT7 MCT 6;MCT 7;breast cancer protein BCY5;monocarboxylate transporter 6;monocarboxylate transporter 7;solute carrier family 16 (monocarboxylic acid transporters), member 6;solute carrier family 16 member 6 APPROVED protein-coding ENSG00000108932 10927 04857 603880 VALIDATED 737474 SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009] 1 1 p12 113255992 113300498 - 113454469 113498975 - 1580863;6480464;7240710 14724187;1429658;17353931;8124722;19033663;19033536;18832090;18539591;18188595;18079261;17701893;17182800;17082373;17081983;17016429;16441976;16408234;16403470;16370372;16150873;15901598;15804185;15765403;15489334;15135232;14702039;12949353;12759536;12739169;12657613;12479094;12477932;11953883;11944921;11882670;11820324;10921872;10590411;10562613;10471310;9824713;8889548;7835905;19913121;20454640;20628086;15342556;15917240;18029348;19427019;19876643;19881260;19898482;19905008;7273846;19850519;20877624;20501436;20035863;20636790;21306479;22939629;23187830;21646425;16196087;17342744;21081165;16136905;18781797;20972266;21139048;21890473;21906983;21987572;21787388;21870331;21930917;22184616;22281667;22428047;21145461;21987487;23073708;23455922;21963094;22516692;23000965;23097496;22053931;22505724 6566 B4DKS0;P53985;Q49A45;Q5T8R3;Q5T8R4;Q5T8R5 ABBA01068436;AF239919;AI656300;AJ438942;AJ438943;AJ438945;AK000641;AK094064;AK296688;AK303603;AK312500;AL158844;AL162079;AMYH01000952;BC026317;BC045664;BM712667;BP294493;CH471122;DB443025;L31801;NG_015880;NM_001166496;NM_003051 AAC41707;AAH26317;AAH45664;ABM86212;ABW03657;ACE86705;ACE87390;BAG35402;BAG59282;BAG64618;CAB82412;CAD27707;EAW56551;EAW56552;EAW56553;NP_001159968;NP_003042;P53985 Hs.75231 1661042;1739167;1745743;1754083;1772230;1796782;1855898;1856219;2143349;2155703;2169904;2216954;5022578;5024761;5037552;5093266;5109281;5109283 94;A009K27;Bda32a02;D1S1423;D1S1425;D1S1431;D1S1896E;D1S2287;D1S3034;D8S2279;G32617;GDB:633352;RH36905;RH69982;SHGC-12946;SHGC-132119;SLC16A1_833;Slc16a1 FLJ36745;HHF7;MCT;MCT1;MGC44475 MCT 1;OTTHUMP00000013960;OTTHUMP00000013961;OTTHUMP00000013962;OTTHUMP00000013963;monocarboxylate transporter 1;solute carrier family 16 (monocarboxylic acid transporters), member 1;solute carrier family 16 member 1;solute carrier family 16, member 1 APPROVED protein-coding ENSG00000155380 10922 02816 245340;600682;610021 REVIEWED 1346247 SLC16A7 solute carrier family 16 (monocarboxylate transporter), member 7 This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 12 12 q13 58369393 58461675 + 59989821 60183636 + 1580863;6480464 12739169;12115955;9786900;18598673;18188595;17502341;14757520;12477932;15917240;19834535;19876643;20379614;7273846;20454640;20035863;21680735;20827233;21177384;22131303;22535546;22700320;21787388;21987572;21906983;21988832;22964484;15123239;23192371 9194 F5H843;F8VQS4;F8VS95;F8VVU7;F8VXG4;F8VYZ2;F8W0N3;F8W0U4;F8W1M4;O60669 ABBA01026672;ABBA01026673;ABBA01026674;AC079905;AC119793;AF049608;AF058056;AK301725;AK310281;AK313345;AMYH01004528;BC007463;BC030693;CH471054;DC394954;DR000391;NM_001270622;NM_001270623;NM_004731;NR_073055;NR_073056 AAC13721;AAC70919;AAH30693;ABM84505;ABM85684;BAG36148;BAG63191;EAW97096;EAW97097;EAW97098;EAW97099;NP_001257551;NP_001257552;NP_004722;O60669 Hs.439643;Hs.88156 1666093;1719841;1736228;1779750;1798166;2216956;2216958;5018983 AL033784;D12S1169E;RH123615;SHGC-153727;SLC16A7_1419;STS-N34486;UniSTS:461933;UniSTS:461934 MCT2 MCT 2;OTTHUMP00000242485;OTTHUMP00000242486;monocarboxylate transporter 2;solute carrier family 16 (monocarboxylic acid transporters), member 7;solute carrier family 16 member 7 APPROVED protein-coding 10928 06791 603654 REVIEWED 1351583 SLC16A5 solute carrier family 16 (monocarboxylate transporter), member 5 This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 17 17 q25.1 70595650 70613847 + 73084055 73102252 + 724632;1580863;6480464 9425115 14702039;15489334;12739169;12477932;10510291;21906983;19322201;16174808;22911660 9121 B4E288;J3KS19;J3KT93;J3QL40;J3QQW5;O15375 ABBA01028817;ABBA01028818;AC111186;AK000416;AK092512;AK304163;AMYH01008629;AW452009;BC009684;BC033611;BI820515;CH471099;NM_001271765;NM_004695;U59299 AAC52013;AAH09684;AAH33611;ABM85080;BAG52563;BAG65050;EAW89232;EAW89233;EAW89234;EAW89235;NP_001258694;NP_004686;O15375 Hs.592095 1691156;1736710;1765715 D17S1521;RH80627;SHGC-149150 MCT5;MCT6 MCT 5;MCT 6;monocarboxylate transporter 5;monocarboxylate transporter 6;solute carrier family 16 (monocarboxylic acid transporters), member 5;solute carrier family 16 member 5 APPROVED protein-coding ENSG00000170190 10926 04856 603879 REVIEWED 731750 SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3 Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008] 17 17 17 q25 76780516 76791586 + 77779582 77790658 + 80186282 80197375 + 724632;1580863;6480464 9425115 17502341;17081983;15489334;12739169;12657613;12477932;10921872;10510291;8125298;20035863;18029348;15917240;7273846;19913121;20628086;16344560;8889548;18781797;21906983;21987572;21963094 9123 J3KT83;J3KTI8;J3KTM6;J3QLE3;J3QQS9;J3QQV2;J3QRA0;J3QRP8;J3QRU2;J3QSC3;O15427 AA448579;ABBA01019672;ABBA01019673;AC132872;AK127319;AK223040;AMYH01008731;BC112267;BC112269;BM926587;BM980920;CH471099;CX872345;DA373476;DA419716;DA583988;DA895850;NM_001042422;NM_001042423;NM_001206950;NM_001206951;NM_001206952;NM_004207;U81800 AAC52015;AAI12268;AAI12270;ADR83188;BAD96760;BAG54480;EAW89753;EAW89754;EAW89755;EAW89756;EAW89757;NP_001035887;NP_001035888;NP_001193879;NP_001193880;NP_001193881;NP_004198;O15427 Hs.500761 2131308;5014051;5015619;5022578;5037552 D11S3114;D1S1423;D8S2278;D8S2279;RH11551 MCT 3;MCT 4;MCT-3;MCT-4;MCT3;MCT4;MGC138472;MGC138474 MCT 3;MCT 4;monocarboxylate transporter;monocarboxylate transporter 3;monocarboxylate transporter 4;solute carrier family 16 (monocarboxylic acid transporters), member 3;solute carrier family 16 member 3 APPROVED protein-coding ENSG00000141526 10924 04854 603877 VALIDATED 1350724 SLC17A1 solute carrier family 17 (organic anion transporter), member 1 6 6 p22.2 25891104 25940266 - 25783125 25832287 - 1580863;6480464 8288239;19503597;8867793;19204726;19084217;14531806;12477932;11704559;10733936;9781053;9545579;7826357;19556210;19571809;19890391;20162742;20566650;20884846;20927387;21149283;21208937;22541845;23263486 6568 E9PGW3;Q14916 ABBA01066549;ABBA01066550;AF362494;AF362495;AF362500;AF362502;AF362504;AK290783;AK308035;AL138726;AL391194;AMYH01016160;AY780791;BC101745;BC101747;BC143579;BG054690;CH471087;D28532;D83236;DC362172;NM_005074;X71355 AAI01746;AAI01748;AAL04478;AAL04479;AAL04480;AAL04481;AAL04482;AAV98361;BAA05888;BAA25645;BAF83472;CAA50490;EAW55494;NP_005065;Q14916 Hs.205816 1663768;1684425;1733408;1846560;2124493;2161613;2189685 D6S2054;D6S2237;D6S2293;D6S2386;D6S985;G29215;RH80887 MGC126794;MGC126796;NAPI-1;NPT-1;NPT1 Na(+)/PI cotransporter 1;OTTHUMP00000017909;OTTHUMP00000214413;OTTHUMP00000214415;na/Pi-4;renal Na(+)-dependent phosphate cotransporter 1;renal sodium-dependent phosphate transport protein 1;renal sodium-phosphate transport protein 1;sodium phosphate transporter;sodium-dependent phosphate transport protein 1;sodium/phosphate cotransporter 1;sodium/phosphate type I cotransporter;solute carrier family 17 (vesicular glutamate transporter), member 1;solute carrier family 17 member 1 APPROVED protein-coding ENSG00000124568 10929 01661 182308 VALIDATED 1318813 SLC17A2 solute carrier family 17, member 2 6 6 6 p21.3 27140178 27158141 - 26020961 26038818 - 25912982 25930946 - 1580863;6480464;7240710 9149941;14574404;12477932;19890391;19850743 10246 A6NK81;O00624 ABBA01066552;AL138726;AMYH01016161;BC104822;BC112033;BC143317;BC143323;BJ993843;CH471087;NM_005835;U90544;U91328 AAB53422;AAB82085;AAI04823;AAI12034;EAW55498;EAW55499;EAW55500;NP_005826;O00624 Hs.591802 1848346;2140528 D6S2382;RH17511 MGC138238;NPT3 Na(+)/PI cotransporter 3;OTTHUMP00000016129;OTTHUMP00000016130;sodium phosphate transporter 3;sodium-dependent phosphate transport protein 3;sodium/phosphate cotransporter 3;solute carrier family 17 (vesicular glutamate transporter), member 2;solute carrier family 17 member 2 APPROVED protein-coding ENSG00000112337 10930 10232 611049;612286;613388 VALIDATED 1344101 SLC17A3 solute carrier family 17 (organic anion transporter), member 3 The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012] 6 6 6 p21.3 27072523 27101662 - 25953307 25982450 - 25845328 25874471 - 1580863;6480464;7240710 9149941;18834626;15505377;12477932;20587610;19571809;19862010;19890391;20053405;20162743;20379614;16712791;20810651;21282933;21778665;23222517;23263486 10786 E9PBQ8;H0Y8R7;H0Y9F7;O00476 ABBA01066550;AK296070;AK296082;AK298271;AK298297;AK298367;AL138726;AMYH01016160;BC017952;BX107915;CB163247;CH471087;DC340735;DC361549;NG_032922;NM_001098486;NM_006632;U90545;Z83953 AAB53423;AAH17952;ABM82917;ABM86107;BAH12250;BAH12253;BAH12747;BAH12751;BAH12767;EAW55495;EAW55496;EAW55497;NP_001091956;NP_006623;O00476 Hs.327179 1648850 D6S2385 NPT4 Na(+)/PI cotransporter 4;OTTHUMP00000016126;OTTHUMP00000016127;OTTHUMP00000016128;sodium-dependent phosphate transport protein 4;sodium/phosphate cotransporter 4;solute carrier family 17 member 3 APPROVED protein-coding ENSG00000124564 10931 10233 611034;612671 REVIEWED 1347871 SLC16A9 solute carrier family 16, member 9 10 10 10 q21.2 54676299 54735417 - 61080529 61165766 - 61410522 61469649 - 6480464 16344560;14702039;12739169;12477932;16385451;19503597;19861489;19890391;20037589;20162742;20162743;21886157;21890473;21906983;23263486 220963 Q7RTY1 ABBA01019452;ABBA01019453;ABBA01019454;AC022027;AC026391;AK021827;AK125791;AK172758;AL122071;AMYH01002767;BC126238;BC130567;BN000144;BX092606;CH471083;CX784319;DA229807;NM_194298 AAI26239;AAI30568;ADR83371;BAC86293;BAD18743;CAB59247;CAD80155;EAW54194;NP_919274;Q7RTY1 Hs.499709 1341473;1698108;1716507;1754871;1766209;1777417;1855489;2219694;7183694;7184890 D10S589;G35324;RH102586;RH121539;SHGC-141800;SHGC-149574;SLC16A9__5427;STS-AA021431 C10orf36;FLJ43803;MCT9 MCT 9;OTTHUMP00000178988;OTTHUMP00000178989;monocarboxylate transporter 9;monocarboxylic acid transporter 9;solute carrier family 16 (monocarboxylic acid transporters), member 9;solute carrier family 16 member 9 APPROVED protein-coding ENSG00000165449 23520 15348 614242 VALIDATED 1314119 SLC17A4 solute carrier family 17, member 4 Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011] 6 6 6 p22.2 26982141 27008607 + 25862945 25888419 + 25754927 25781403 + 1580863;6480464 22460716;10319585;12672655;12477932;21909108;21943158 10050 E7EPE8;E7EU17;Q9Y2C5 AB020527;ABBA01066548;ABBA01066549;AK024903;AK293354;AK308500;AL391194;AMYH01016160;BC109207;BC109208;CH471087;NM_005495 AAI09208;AAI09209;BAA76663;BAG56870;EAW55492;EAW55493;NP_005486;Q9Y2C5 Hs.282931 1788902;1798168 G67627;SLC17A4_1574 KAIA2138;KIAA2138;MGC129623 Na/PO4 cotransporter;OTTHUMP00000016125;putative small intestine sodium-dependent phosphate transport protein;solute carrier family 17 member 4 APPROVED protein-coding ENSG00000146039 10932 05022 604216 VALIDATED 733222 SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8 This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 12 12 q23.1 99275125 99339968 + 100750857 100815837 + 1580863;6480464;6907045;7240710 18674745;18498073;17660252;12477932;12151341;11115382;15102489;16516863;16722234;20301607;23341777 246213 Q8NDX2 ABBA01053256;AC026110;AC126308;AJ459241;AK128319;AMYH01004697;BC117229;BC143396;CH471054;NG_021175;NM_001145288;NM_139319 AAI17230;AAI43397;ADR83038;BAG54658;CAD30553;EAW97637;NP_001138760;NP_647480;Q8NDX2 Hs.116871 1335154;1746907;1746941;1749177;1767995;1782632;1796790 D12S1030;G10266;G64829;G64831;SHGC-110863;SHGC-145725;SLC17A8_1283 DFNA25;VGLUT3 OTTHUMP00000243577;OTTHUMP00000243578;solute carrier family 17 member 8;vesicular glutamate transporter 3 APPROVED protein-coding ENSG00000179520 20151 10457 605583;607557 REVIEWED 730912 SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 11 11 p14.3 22316243 22357619 + 22359667 22401049 + 1580863;6480464;6907045 19156168;19086053;18562601;18155679;18050306;17660252;17531353;16344560;15124103;12477932;11306821;10820226;8889548;19839996;20540360;20541370;22510271;23453885;22684983 57084 B4DGA8;Q9P2U8 AB032435;ABBA01061015;AC040936;AK294502;AK309131;AMYH01003438;BC069629;BC069640;BC069646;BQ185289;BQ188116;CH471064;CK823303;DA392769;NM_020346 AAH69629;AAH69640;AAH69646;BAA92874;BAG57719;EAW68324;NP_065079;Q9P2U8 Hs.242821 1673743;1729752 D11S2049;D11S865 DNPI;VGLUT2 OTTHUMP00000231813;differentiation-associated BNPI;differentiation-associated Na(+)-dependent inorganic phosphate cotransporter;differentiation-associated Na-dependent inorganic phosphate cotransporter;solute carrier family 17 member 6;vesicular glutamate transporter 2 APPROVED protein-coding ENSG00000091664 16703 10459 607563 VALIDATED 737319 SLC18A1 solute carrier family 18 (vesicular monoamine transporter), member 1 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008] 8 8 p21.3 20046652 20084997 - 20002366 20040717 - 1580863;5131197;5131200;5131198;6480464;6907045 16936705;16189177;18451639 7905859;8643547;19156168;18702937;18249496;18193046;17134514;16326835;12871984;12807698;12477932;11431013;20677014;12827358;19060910;20031538;20038947;20468064;23090274;21883697;22318606;23505323 6570 E5RK12;P54219;Q96GL6 ABBA01021549;AC025853;AK313720;AMYH01018559;BC006317;BC009387;CH471080;NM_001135691;NM_001142324;NM_001142325;NM_003053;U39905 AAC50472;AAH06317;AAH09387;ABM83656;ABM84371;ABM86902;BAG36463;EAW63760;EAW63761;EAW63762;EAW63763;NP_001129163;NP_001135796;NP_001135797;NP_003044;P54219 Hs.158322 1796792 SLC18A1_248 CGAT;VAT1;VMAT1 OTTHUMP00000122508;OTTHUMP00000224712;OTTHUMP00000224713;OTTHUMP00000224714;OTTHUMP00000237226;chromaffin granule amine transporter;solute carrier family 18 (vesicular monoamine), member 1;solute carrier family 18 member 1;solute carrier family 18, member 1;vesicular amine transporter 1 APPROVED protein-coding ENSG00000036565 10934 01897 193002 VALIDATED 733841 SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008] 19 19 q13 54624470 54636596 - 49932655 49944808 - 1580863;6480464;6907045 8632143;10820226;19156168;19086053;18155679;17660252;17531353;16606361;15961236;15653259;14702039;12477932;12107411;11001057;10938000;8889548;19720501;19839996;21396926;22510271;23022470 57030 B4DFR9;B4DG46;M0R1S5;Q9P2U7 AB032436;ABBA01032929;AC010619;AK057879;AK091061;AK095659;AK289622;AK294226;AK294405;AMYH01009912;BC059379;BG701511;BQ636968;BU732143;CH471177;NM_020309 AAH59379;BAA92875;BAF82311;BAG57530;BAG57657;EAW52485;NP_064705;Q9P2U7 Hs.375616 1645001;1711412;1791266;2151357;2217980;5023547 G42190;HSCZSA032;MARC_9701-9702:996688535:1;PMC84149P1;RH11758;SLC17A7_839.2 BNPI;VGLUT1 brain-specific Na(+)-dependent inorganic phosphate cotransporter;brain-specific Na-dependent inorganic phosphate cotransporter;solute carrier family 17 member 7;vesicular glutamate transporter 1 APPROVED protein-coding ENSG00000104888 16704 05551 605208 REVIEWED 1322823 SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008] 6 6 q13 74359823 74420417 - 74303102 74363737 - 1624224;1580863;6480464;7240710 10581036 7557994;18695252;18399798;17933575;16303743;16170568;15516337;15510212;15489334;15342556;15172005;15006695;14702039;12794687;12477932;12359136;12121352;11751519;11588980;10947946;10069709;8198127;7573152;7151835;2334213;2010546;22778404;22334707;21832049;19913121;20424173;20628086;19557856;20379614;3961501;20301643;21781115;21890473;21906983;22632162 26503 B4DFF2;Q9NRA2 ABBA01040332;ABBA01040333;ABBA01040334;ABBA01040335;ABBA01040336;ABBA01040337;AF244577;AJ387747;AK025880;AK026921;AK075320;AK294068;AK315789;AL121972;AL590428;AMYH01016427;AMYH01016428;AMYH01016429;AMYH01016430;AMYH01016431;BC020961;BP288187;CH471051;NG_008272;NM_012434 AAF97769;AAH20961;ABM82388;ABW03386;BAC11546;BAG38135;BAG57413;CAB62540;EAW48756;EAW48757;EAW48758;NP_036566;Q9NRA2 Hs.597422 1680741;1796788;2137280;2158291;5015961 D15S1477;RH45718;RH99262;SLC17A5_400;STS-N21319 AST;FLJ22227;FLJ23268;ISSD;NSD;SD;SIALIN;SIASD;SLD H(+)/nitrate cotransporter;H(+)/sialic acid cotransporter;OTTHUMP00000016747;membrane glycoprotein HP59;sialic acid storage disease;sialin;sodium/sialic acid cotransporter;solute carrier family 17 member 5;solute carrier family 17, member 5;vesicular H(+)/Aspartate-glutamate cotransporter APPROVED protein-coding ENSG00000119899 10933 05058 269920;604322;604369 REVIEWED 1323655 SLC17A9 solute carrier family 17 (vesicular nucleotide transporter), member 9 20 20 20 q13.33 58260628 58276497 + 61054444 61070394 + 61583999 61599949 + 6480464 18375752;16344560;15489334;14702039;12693554;12477932;11780052;20382737;21613220;21988832;23467297 63910 Q5W197;Q9BYT1 ABBA01021377;AK027065;AK074107;AK095473;AK125597;AK298503;AL121673;AMYH01012067;AMYH01012068;BC025312;BC027447;BC038593;CH471077;DB153870;NM_022082 AAH25312;AAH27447;BAB15644;BAB84933;BAG53064;BAG60710;EAW75313;EAW75314;EAW75315;EAW75316;EAW75317;NP_071365;Q9BYT1 Hs.512686 1680323;1681109;5093528 G32772;RH67463;RH78178 C20orf59;FLJ23412;VNUT OTTHUMP00000031528;OTTHUMP00000031530;solute carrier family 17 member 9;vesicular nucleotide transporter SLC17A9 APPROVED protein-coding ENSG00000101194 16192 12777 612107 VALIDATED 734009 SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011] 10 10 q25 118990706 119027085 + 119000584 119038941 + 1580863;5131168;5130970;5131165;5129143;5131167;5128868;5131159;5131163;5131179;5131199;5131086;6480464;6907045 17898223;19798748;16339215;16269145;16421508;19903816;18385100;11463816;17683483;19223416;21291984 18316816;8095030;19328558;19289536;19228741;19156168;18797399;18791800;18599602;18288090;18045777;17985233;17665159;17652604;17442673;17427184;17344033;17233532;16408221;16386370;16189177;16139173;15988470;15850588;15829504;15489334;15475732;15164054;15135235;12871984;12710012;12477932;12112084;12009896;11997877;11443533;11431013;11279528;9045708;8643547;8373557;8245983;7905859;22483869;20677014;12827358;19693267;19874574;20080893;20379614;20468064;20544232;21041608;21083670;20665056;20181938;21814181;23363473;21522164;22554508;23185343;21139048;21851191;21484276;23530208 6571 Q05940;Q99870 AB044401;ABBA01062946;ABBA01062947;AK314997;AL391988;AL731557;AMYH01003101;BC030593;BC108927;BC108928;BQ416859;CH471066;DB458870;L09118;L14269;L23205;NM_003054;X71354;X94079 AAA59877;AAA61290;AAA91853;AAH30593;AAI08928;AAI08929;BAB19009;BAG37493;CAA50489;CAA63824;EAW49428;EAW49429;EAW49430;NP_003045;Q05940 Hs.596992 1680116;1789248;2145239;2162964 G65624;RH92599;SHGC-31141;U75537 MGC120477;MGC120478;MGC26538;SVAT;SVMT;VAT2;VMAT2 OTTHUMP00000020576;monoamine neurotransmitter transporter;monoamine transporter;solute carrier family 18 member 2;solute carrier family 18, member 2;synaptic vesicular amine transporter;vesicle monoamine transporter type 2;vesicle monoamine/H+ antiporter;vesicular amine transporter 2 APPROVED protein-coding ENSG00000165646 10935 01896 193001 REVIEWED 1315874 SLC18B1 solute carrier family 18, subfamily B, member 1 This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008] 6 6 6 q22.3-q23.3 133837336 133866574 - 133132200 133161440 - 133090507 133119747 - 6480464 19697161;15203218;12477932;21987572;21906983;19322201 116843 B7Z1S5;Q5TBJ2;Q6NT16 ABBA01025876;AJ420537;AK124442;AK289918;AK293853;AL032821;AL137783;AMYH01016676;AX235945;BC069567;BC069570;CB218467;CD635228;CH471051;NM_052831 AAH69567;AAH69570;BAF82607;BAG54039;BAH11611;CAC88243;EAW48012;EAW48013;NP_439896;Q6NT16 Hs.347144 1715679;2122776;2127913 RH119286;RH46757;WI-13485 C6orf192;dJ55C23.6 MFS-type transporter C6orf192;MFS-type transporter SLC18B1;OTTHUMP00000017232;solute carrier family 18 member B1 APPROVED protein-coding ENSG00000146409 21573 12869 613361 VALIDATED 732691 SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008] 10 10 q11.2 50488353 50490772 + 50818347 50820766 + 61752;1580863;5686699;5686430;5686805;5686685;5686693;5686682;6480464;5686673;5686690 8071310;17229408;21743130;16987871;18394802;17306796;18848922;21333939;17328924 12827358;12417445;19204726;17373700;16763548;15489334;14622097;12759818;12477932;10883397;10727789;8910293;8860234;7616604;19685929;20379614;20490865;20831599;21163949;21948486;22821666;23222296 6572 Q16572 ABBA01041070;AC073366;AK313094;AMYH01002642;BC007765;CH471187;NG_011797;NM_003055;U09210;U10554 AAA20497;AAB92675;AAH07765;ADZ15462;BAG35918;EAW93093;NP_003046;Q16572 Hs.654374 MGC12716;VACHT OTTHUMP00000019582;solute carrier family 18 member 3;solute carrier family 18, member 3;vesicular acetylcholine transporter APPROVED protein-coding ENSG00000187714 10936 08979 600336 REVIEWED 737399 SLC19A1 solute carrier family 19 (folate transporter), member 1 The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] 21 21 q22.3 45759057 45786779 - 46934629 46962385 - 735239;1580863;6480464;7242557;7242426 11600421;22108709;20814827 12749765;7826387;8276792;19340000;19336437;19336370;19324355;19172696;19161160;19048631;19020309;19019821;18988749;18830263;18797703;18776693;18676680;18650265;18635682;18629538;18528741;18499665;18427977;18414976;18322994;18182479;18053808;18028428;17983788;17891500;17436311;17404734;17334909;17325736;17323057;17311260;17311259;17306382;17264302;17113562;17035141;16962770;16923800;16917939;16875718;16750224;16365025;16225938;16122883;16115875;15964598;15937947;15922487;15797993;15652157;15564880;15469899;15457444;15337749;15297414;15214842;15068242;14602046;14584080;14551190;12855225;12753319;12673279;12576457;12519783;12477932;12454742;12411325;12228234;12227830;12175915;12144527;12139489;12087110;11857541;11705857;10830953;10347183;9804996;9602167;9570943;9041240;7852378;7763259;7641195;7615551;12707400;21507721;19913121;20544798;20557288;20628086;20647221;20651609;20683905;20718043;16471213;19105199;19170196;19274320;19571232;19625176;19650776;19651439;19692168;19706844;19729796;19841321;20018840;20036773;20037791;20056620;20233025;20235210;20310006;20371868;20424473;20458436;20468076;20737570;20824655;20852008;20890936;20335220;22890010;22975209;21274745;20494980;21760912;21811990;23148635;21139048;21890473;21906983;21987572;22344739;21963094;22053931;23000965;23144806;23385809;22505724 6573 C9J8K6;C9JKP4;E9PIL5;H0Y4T2;H3BTQ3;P41440 AB209069;ABBA01074202;AF004354;AF064602;AK303168;AK307623;AK310797;AK313125;AL163302;AMYH01012317;AY089985;AY089986;AY089987;AY089988;BC003068;BC023005;BC128247;BX322561;CB959876;CB995207;CH471079;DC311922;NG_028278;NM_001205206;NM_001205207;NM_194255;S78996;U15939;U17566;U19720;U92868;U92869;U92870;U92871;U92872;U92873 AAA74914;AAA98442;AAB35058;AAB61417;AAC26162;AAC50180;AAC78834;AAH03068;AAI28248;ABM82757;ABM85942;BAD92306;BAG35945;BAH13909;CAB90483;EAX09331;EAX09332;EAX09333;EAX09334;EAX09335;EAX09336;EAX09337;NP_001192135;NP_001192136;NP_919231;P41440 Hs.736903;Hs.84190 1656073;1672188;1687407;1701690;1790665;1797422;2115583;2153526;2164916 COL18A1_540.2;RH78304;RH91121;SHGC-12530;SHGC-8080;SHGC-87711;SHGC-87717;STS-T97724;STS_CEB288 CHMD;FOLT;IFC1;REFC;RFC1 IFC-1;OTTHUMP00000115459;OTTHUMP00000115460;RFC;folate transporter 1;intestinal folate carrier 1;placental folate transporter;reduced folate carrier protein;solute carrier family 19 member 1;solute carrier family 19, member 1 APPROVED protein-coding ENSG00000173638 10937 02691 600424 REVIEWED 1318484 SLC19A2 solute carrier family 19 (thiamine transporter), member 2 This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. [provided by RefSeq, Jul 2008] 1 1 q23.3 167699791 167721865 - 169433147 169455208 - 1599325;1580863;6480464;7240710 10391221 22369132;10542220;3060175;18029348;19064610;17659067;17463047;17331069;16710414;16705148;16373304;16371350;16055442;16015585;15952116;14994241;14622275;14615284;12900388;12477932;12454006;12227830;12065289;10978358;10874303;10391223;10391222;9399900;8889548;19913121;20628086;19340000;19423748;19536175;19731322;11286512;20466634;20301459;21963094;21988832;23454484;19322201;22876572;21906983;21980494;23589815;23285265 10560 O60779;Q5TIE1 AB209540;ABBA01027952;AF135488;AF153330;AF158233;AF160186;AF160756;AF160812;AF272359;AJ237724;AJ238413;AK304021;AK313779;AK316465;AL021068;AMYH01001488;AY288293;BC018514;BU608154;CH471067;NG_008255;NM_006996 AAD43534;AAD45985;AAD51280;AAD51283;AAD54242;AAF15129;AAH18514;AAK54468;AAP37965;BAD92777;BAG36517;BAG64936;BAH14836;CAB50770;CAB50771;EAW90843;EAW90844;EAW90845;EAW90846;EAW90847;NP_008927;O60779 Hs.30246 1771779;1796794 SHGC-75880;SLC19A2_1484 TC1;THMD1;THT1;THTR1;TRMA OTTHUMP00000033497;OTTHUMP00000033498;OTTHUMP00000033499;high affinity thiamine transporter;reduced folate carrier protein (RFC) like;solute carrier family 19 member 2;thTr-1;thiamine transporter 1 APPROVED protein-coding ENSG00000117479 10938 04897 249270;603941 REVIEWED 1322863 SLC19A3 solute carrier family 19 (thiamine transporter), member 3 This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010] 2 2 q37 228258170 228290989 - 228549926 228582745 - 1580863;6480464;7240710 3060175;11136550;17463047;16790503;16705148;16371350;16055442;15871139;15815621;15623830;15489334;15328374;15217784;14770311;12861052;12477932;11731220;20930543;19423748;19816091;21176162;22777947;23482991;21789241;23285265;21988832;23423671;23251661 80704 B8ZZ39;B8ZZW1;C9IZI1;C9J4J5;E7EM61;F5H2M8;Q9BZV2 ABBA01050176;ABBA01050177;ABBA01050178;ABBA01050179;AC064853;AC093762;AF271633;AF283317;AI056985;AK301490;AK312464;AMYH01011543;BC032014;CH471063;NG_016359;NM_025243 AAG53879;AAH32014;AAK69539;AAX93157;ABM83337;ABM86551;BAG35371;BAH13497;EAW70875;EAW70876;NP_079519;Q9BZV2 Hs.221597 1721969;2183534 G59870;RH47615 BBGD;THMD2;THTR2 OTTHUMP00000164241;OTTHUMP00000204103;solute carrier family 19, member 3;thTr-2;thiamine transporter 2 APPROVED protein-coding ENSG00000135917 16266 07311 606152;607483 REVIEWED 732300 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010] 11 11 p13-p12 35229328 35397681 - 35272752 35441610 - 70006;1302517;1300048;1580863;6480464;6907045 1448170;9539131 15483603;7521911;19338517;19283393;19268276;19156168;19151621;19086053;19023027;18838545;18658151;18519826;18378006;18326497;18314905;17920768;17684493;17535102;17311320;17311293;16766085;16567804;16344560;16061389;15822905;15660126;15494981;15337309;15296513;15265858;15246112;15135231;15048885;14702039;14662797;14506254;12950454;12898275;12890621;12578975;12477932;12408226;11994293;11891650;11860269;11792462;11744157;11698255;11357955;11204345;11071482;11038258;11031254;9585360;9463476;9450673;9110174;8619474;8172925;7587378;7522567;15927426;14982736;22561518;17823119;21335552;20416976;21110225;19527721;19660525;19910676;19998491;20193040;20379614;20398908;20410850;21471434;20399272;20688910;20936779;21098017;21711518;21792905;21852380;21707071;21569822;22069320;22505712;22764253;23023733;22513140;22522966;23596072;22728822;22750157;22903028 6506 A2A2U1;C9J9N5;H0YEB1;H0YEK4;P43004 AB209444;ABBA01060860;ABBA01060861;ABBA01060862;AC090625;AF131756;AF510107;AK054855;AK057674;AK090810;AK122843;AK298769;AL133330;AL157452;AMYH01003489;AY066021;BC031313;BC047052;BC132768;BX509751;BX538155;BX648750;CH471064;CR626999;CR627009;CR627022;CR749842;CS448965;D85884;DA158200;DA215039;DB465494;NG_008727;NM_001195728;NM_001252652;NM_004171;U01824;U03505;Z32517 AAA18900;AAA50429;AAI32769;AAL57716;BAA28706;BAD92681;BAG53756;BAG60911;CAA83532;CAL69850;EAW68141;EAW68142;EAW68143;NP_001182657;NP_001239581;NP_004162;P43004 Hs.502338 1648922;1659020;1659797;1730363;1730415;1731559;1739909;1756917;1768664;1798172;1851590;2113964;2119603;2119605;2130374;2142158;2142226;2169687;2174791;2174793;5022651;5023349;7184694;7185489 A001X30;A005T24;AB056372;D11S1264;D11S2280E;D11S2282E;D11S2323E;D11S2385;D11S2921;D11S4061;D11S941E;D11S945E;G19754;G20481;HSC13E022;NIB521;RH11741;RH64984;RH65376;SHGC-144080;SLC1A2;SLC1A2_2151 EAAT2;GLT-1 OTTHUMP00000165208;OTTHUMP00000165209;OTTHUMP00000165210;excitatory amino acid transporter 2;excitotoxic amino acid transporter 2;glial high affinity glutamate transporter;glutamate/aspartate transporter II;sodium-dependent glutamate/aspartate transporter 2;solute carrier family 1 member 2;solute carrier family 1, member 2 APPROVED protein-coding ENSG00000110436 10940 02625 600300 REVIEWED 732972 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010] 9 9 p24 4480444 4577469 + 4490427 4587469 + 1580863;6480464;6907045;7240710 16566829;7521911;19360657;19349310;19156168;19152386;19086053;18846501;18624794;18286588;18167356;18096700;17991780;17894418;17646425;17630698;17588938;17360917;17360916;17221839;16858406;16818867;16818866;16800850;22532568;16478724;16198020;16061389;15716409;15489334;15164053;15135231;12843260;12477932;11823462;11317217;11242046;10701825;9375691;8782106;8020993;7914198;7859077;16189514;20634426;16344560;19644675;19884611;20155310;20378543;20398908;20410850;20468064;19569082;21084597;20424168;21123949;21832049;21445956;22483750;21990008;22095641;22158540;21628590;22531293;22617815;22479505;22707712 6505 H0Y7R2;P43005 AB008536;ABBA01065421;AF037982;AF074911;AK313013;AL136231;AL162587;AMYH01019200;AMYH01019201;BC033040;BQ008494;BQ029108;CB984615;CH471071;CK903716;DA643262;NG_017044;NM_004170;U03506;U06469;U08989 AAA50430;AAA53215;AAA68628;AAC25029;AAC27511;AAH33040;ABM83351;ABM86565;BAB83767;BAG35848;EAW58786;NP_004161;P43005 Hs.444915 1649665;1661304;1673780;1711942;1731423;1735944;1766355;1767119;1798170;2152134;2175093;5122924 D9S1071E;D9S1970;D9S1982;D9S199;G49582;RH11999;RH15877;RH48870;RH70490;SHGC-149694;SHGC-35927;SLC1A1_2172 EAAC1;EAAT3;SCZD18 OTTHUMP00000021006;excitatory amino acid carrier 1;excitatory amino acid transporter 3;neuronal and epithelial glutamate transporter;sodium-dependent glutamate/aspartate transporter 3;solute carrier family 1 member 1;solute carrier family 1, member 1 APPROVED protein-coding ENSG00000106688 10939 00597 133550;615232 REVIEWED 1352627 SLC20A1P1 solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 14 14 14 q32.33 87076933 87078652 - 106209692 106211411 - 107138647 107140366 - 9841928 192127 AB019437;AMYH01006101;NG_001019 1710266 SHGC-85227 pseudo 20051 VALIDATED 5487084 SLC20A1P2 solute carrier family 20 (phosphate transporter), member 1 pseudogene 2 14 14 q32.33 105706610 105708194 - 106635565 106637149 - 9841928 192128 AB019440;ABBA01074094;AMYH01006101;NG_001019 pseudo 42539 VALIDATED 5487956 SLC20A1P3 solute carrier family 20 (phosphate transporter), member 1 pseudogene 3 15 15 q11.1 18432672 18438137 - 20171883 20173618 - 9847074 646052 ABBA01004579;AC127381;AMYH01006105;NG_021113 pseudo 42538 INFERRED 732126 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 This gene encodes a member of a member of a high affinity glutamate transporter family. Mutations in this gene are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] 5 5 p13 36642446 36724191 + 36606457 36688436 + 1580863;6480464;6907045;7240710 19338517;11792462;8647279;7521911;19352218;19283393;19156168;19139306;19086053;18678877;18657127;18454440;18446307;18081024;17676873;17627080;17581948;17316900;17221839;16877378;16516348;16116111;16061389;16042756;15950021;15718040;15535133;15135231;14749132;14713304;12957496;12911626;12769187;12477932;11826152;10864655;10594060;10570036;10519046;9110174;8619474;8218410;8123008;8001975;7859077;7698014;7584044;11752470;10915646;21145461;19913121;20628086;19736351;23107647;22706862;21876140;21528001;21711518;22252783;21233784;21732909;21707071;21963094;22292083;18781797;21139048;21906983;21987572;22053931;22569537 6507 B4DF14;E7EPV5;E7EUS7;E7EUV6;P43003;Q7Z5T0;Q8N169 ABBA01024174;AC008957;AC010631;AF070609;AK057823;AK293886;AK295032;AK295754;AK312304;AMYH01015027;AMYH01015028;AY954110;BC022285;BC037310;BC054475;BQ019197;CH471119;D26443;DC320625;L19158;NG_015890;NM_001166695;NM_001166696;NM_004172;U03504;Z31713 AAA50428;AAH37310;AAH54475;AAY28724;BAA05462;BAG35230;BAG57275;BAG58087;BAG58584;CAA83507;EAW55945;EAW55946;NP_001160167;NP_001160168;NP_004163;P43003 Hs.481918 1675499;1794316;1796796;2111416;2123815;2125194;2127120;2135016;2158890;2164614 D5S1950;L28325;PMC311006P7;RH66388;RH68232;RH69887;RH80751;SGC34127;SLC1A3_404;WI-19296 EA6;EAAT1;FLJ25094;GLAST;GLAST1 GLAST-1;OTTHUMP00000116002;excitatory amino acid transporter 1;sodium-dependent glutamate/aspartate transporter 1;solute carrier family 1 member 3;solute carrier family 1, member 3 APPROVED protein-coding ENSG00000079215 10941 02523 600111;612656 REVIEWED 736350 SLC21A1 solute carrier family 21, member 1 1598620;625763 14731123;12006354 6577 732902 SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 19 19 19 p13.12 14956703 14979425 - 14921991 14944730 - 15060991 15083730 - 1580863;6480464;6907045 17442044;7791878;19156168;19086053;17360917;17221839;15057824;12477932;11432999;11242047;16169070;20519505;20424473;21572047;22302796;16344560 6511 B7Z7Q5;E7EV13;M0QY32;M0R063;M0R0B5;M0R106;M0R1V3;M0R2V7;P48664;Q8N753 AB209199;ABBA01051087;ABBA01051088;AC004659;AK302380;AK312996;AMYH01009542;BC028721;BC040604;BI829415;CH471106;DA059558;DA200776;DB027852;DR004792;HY352099;NM_001272087;NM_001272088;NM_005071;NR_073589;U18244 AAA75314;AAC15754;AAH28721;AAH40604;BAD92436;BAH13691;EAW84456;EAW84457;NP_001259016;NP_001259017;NP_005062;P48664 Hs.515217;Hs.733178 1669355;1771965;2129386;5015404;5015861;5015961;5017227;5020885;5022578;5037552;7185938 D10S16;D15S1477;D19S578;D1S1423;D8S2279;G16271;G38154;L17705;L17791;WI-16161 EAAT4;MGC33092;MGC43671 excitatory amino acid transporter 4;sodium-dependent glutamate/aspartate transporter;solute carrier family 1 member 6 protein-coding ENSG00000105143 10944 09005 600637 VALIDATED 1345199 SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 2 2 p15-p13 65070098 65104503 + 65215579 65250999 + 1580863;6480464 19086053;8603078;8101838;8340364;8910405;14502423;16897601;18638388;18442140;17106422;17081065;16344560;15815621;15489334;12584318;12477932;12050356;11824937;11268453;10933718;8125298;7896285;16820059;18195088;20424473;22623531;21139048;21906983;21987572;22286219;22916037;22053931 6509 P43007 AB026689;ABBA01075429;AC007386;AK126636;AK223486;AK295687;AK298472;AK313052;AK315986;AMYH01010404;BC007350;BC026216;BC072423;BI553783;CH471053;CR990382;DA214889;DA218921;L14595;L19444;NM_001193493;NM_003038;U05235 AAA02761;AAA19438;AAC51349;AAF03519;AAH26216;AAH72423;ABM82053;ABM85232;BAA94861;BAD97206;BAG35883;BAH12156;BAH12797;BAH14357;EAW99932;EAW99933;NP_001180422;NP_003029;P43007 Hs.654352 1656498;1734884;1768015;1775224;1847030;1853615;2111194;2116693;2161879;2168450;5021620 D2S1651E;D2S1652E;D2S2566;D2S2858;D2S2933;D2S421E;RH16636;RH69014;RH70537;SLC1A4;WI-14351 ASCT1;SATT ASCT-1;OTTHUMP00000159933;OTTHUMP00000235138;alanine/serine/cysteine/threonine transporter 1;glutamate/neutral amino acid transporter;neutral amino acid transporter A;solute carrier family 1 member 4 protein-coding ENSG00000115902 10942 02576 600229 VALIDATED 1323639 SLC1A7 solute carrier family 1 (glutamate transporter), member 7 1 1 1 p32.3 51840827 51896289 - 53325443 53380837 - 53552855 53608289 - 1580863;6907045;6480464 19086053;9108121;15737648;14702039;12477932;12107412;19913121;20628086;20424473;21408207;21697133;22745009 6512 O00341;Q9BW45 AB593059;AB593060;AB593061;ABBA01074746;AK093921;AL445183;AMYH01000625;BC000651;BC012119;BC017242;CD672672;CH471059;JF917096;NM_006671;U76362 AAB53971;AAH00651;AAH12119;AAH17242;ABM83225;ABM86424;AEI69348;BAG52786;BAJ84006;BAJ84007;BAJ84008;EAX06754;EAX06755;NP_006662;O00341 Hs.104637 1677388;1798174;2158595 G35927;RH94229;SLC1A7_1966 AAAT;EAAT5;FLJ36602 OTTHUMP00000010489;excitatory amino acid transporter 5;excitatory amino acid transporter 5 (retinal glutamate transporter);excitatory amino acid transporter 5a long;retinal glutamate transporter;solute carrier family 1 member 7 protein-coding ENSG00000162383 10945 09194 604471 VALIDATED 732626 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] 6 6 q25.3 160462853 160499740 + 160542863 160579750 + 6480464;6907045;7244192;7243179;7243180;7243885;7243178;7243877;7243881;7243879 21154198;22414646;21909718;19002567;23228442;21835768;18313662;20814153 20143233;20371711;9187257;11543633;19381165;19343046;19336679;19141860;19021069;18669873;18559609;18483382;17971819;17934801;17701831;17635184;17609683;17568400;17476361;17393420;17220237;17111267;16597591;16141367;15817714;15499200;15389554;15135235;14697261;12719534;12439218;12439217;11752456;11447227;11388889;11136971;10541551;9933568;9605850;9260930;9078256;8902060;7690421;1727476;22810231;20679960;20680652;20682687;20720558;12477932;19536068;19584153;19591196;19833842;19898263;19950608;19954617;20173083;20363215;20379614;20424473;20429798;20445576;20660041;20921968;20959405;21044367;20960210;21104302;22508387;20686565;21743057;21886157;22202118;22207690;22735389;21988832;22483271;22498645;23144633;23272163;22718759;23223357 6580 F5GY86;F5H5P3;O15245 ABBA01021058;AJ243995;AK289887;AL353625;AMYH01016806;AV684761;BC126364;CH471051;NM_003057;NM_153187;U77086;X98332 AAB67703;AAI26365;ADR83047;BAF82576;CAA66977;CAB95971;EAW47603;EAW47604;EAW47605;EAW47606;NP_003048;NP_694857;O15245 Hs.117367 1761279 SHGC-145283 HOCT1;OCT1;oct1_cds OTTHUMP00000017537;OTTHUMP00000238949;OTTHUMP00000238993;OTTHUMP00000238994;organic cation transporter 1;solute carrier family 22 member 1 APPROVED protein-coding ENSG00000175003 10963 04007 602607 REVIEWED 733735 SLC20A2 solute carrier family 20 (phosphate transporter), member 2 This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] 8 8 p11.21 42393150 42516225 - 42273980 42397356 - 1580863;6480464;7207819 21778753 8302848;17494632;16790504;15955065;15308749;12477932;12205090;11932396;7745689;1656098;20379614;23334463;7966619;8041748;21586110;20301594;21890473;21906983;16344560;22327515;23000965;23122642 6575 B2RBR4;B4DJ71;E5RGG8;E5RGJ6;E5RGM8;E5RIX1;E5RJW9;Q08357 ABBA01021155;ABBA01021156;ABBA01021157;ABBA01021158;ABBA01021159;AC090739;AC093367;AC107885;AK291202;AK295952;AK314774;AMYH01018681;AMYH01018682;AMYH01018683;AMYH01018684;AMYH01018685;BC028600;CH471080;DA418477;H10927;L20852;NG_032161;NM_001257180;NM_001257181;NM_006749 AAA18018;AAH28600;ABM82464;ABM85653;BAF83891;BAG37311;BAG58733;EAW63213;EAW63214;EAW63215;NP_001244109;NP_001244110;NP_006740;Q08357 Hs.653173;Hs.654763 1643687;1652531;1671747;1675545;1679984;1680797;1683435;1685960;1796798;1853243;1857518;2137482;2166523;7186764 A005T02;D19S1068;D8S1500;D8S1915;D8S2042;D8S291E;RH40591;RH79257;RH79839;RH80329;RH99123;SHGC-37178;SLC20A2_1432 GLVR2;Glvr-2;IBGC3;MLVAR;PIT-2;PIT2;Ram1;hPit2 OTTHUMP00000226062;OTTHUMP00000226063;OTTHUMP00000226064;gibbon ape leukemia virus receptor 2;hPit2;murine leukemia virus, amphotropic, receptor for;phosphate transporter 2;pit2;sodium-dependent phosphate transporter 2;solute carrier family 20 member 2;solute carrier family 20, member 2 APPROVED protein-coding ENSG00000168575 10947 08865 158378;614540 REVIEWED 1602951 SLC22A10 solute carrier family 22, member 10 11 11 11 q12.3 60381496 60403314 + 62814006 62835822 + 63057430 63079246 + 6480464 11327718;16554811;12372408;12477932;16712791 387775 B4DJY8;E9PIT2;E9PJB1;E9PMM0;Q63ZE4;Q68CJ0 AB075876;ABBA01003254;AK296299;AK298430;AMYH01003693;AP001880;BC171744;BK001421;BX091233;CB162810;DR003989;NM_001039752 AAI60176;BAD38658;BAG59000;BAG60651;DAA01503;NP_001034841;Q63ZE4 Hs.188982 1731249;1737909 D11S3511;D11S480 OAT5;hOAT5 OTTHUMP00000228881;OTTHUMP00000228882;OTTHUMP00000230108;organic anion transporter 5;solute carrier family 22 (organic anion/cation transporter), member 10;solute carrier family 22 member 10 protein-coding 18057 607580 VALIDATED 1347799 SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011] 19 19 q13.3 51969980 51983653 - 47278140 47291842 - 1580863;6480464 10051606;17353931;8702519;18638388;18157695;17676482;17329400;17081983;17081065;16820059;16516348;16435221;16344560;16197915;15848195;15845389;15489334;14702039;14520239;12757936;12584318;12555937;12477932;12175968;12050356;11350958;10196349;21145461;10698697;11781704;16169070;18195088;19321927;19615732;22990118;22939629;16196087;18029348;18781797;20972266;21139048;21890473;21906983;21987572;22238282;22804921;15174051;19805454;21963094;23000965;23213057;22053931;22505724 6510 M0QX44;M0QXM4;M0R144;Q59ES3;Q96RL9 AB209738;ABBA01040987;ABBA01040988;AC008622;AF102826;AF105230;AF105423;AF334818;AK055630;AK125222;AK292690;AK293433;AK299137;AK301661;AK316546;AMYH01009872;BC000062;CH471126;DA031076;GQ919058;NM_001145144;NM_001145145;NM_005628;U53347 AAC50629;AAD09812;AAD09814;AAD27806;AAH00062;AAK77026;ABM83074;ABM86271;ACX53626;BAD92975;BAF85379;BAG56938;BAG61189;BAG63136;BAH14917;EAW57446;NP_001138616;NP_001138617;NP_005619;Q15758 Hs.631582 1745111;1792844;2217982 GDB:594587;PMC16555P1;SLC1A5_3271 AAAT;ASCT2;ATBO;FLJ31068;M7V1;M7VS1;R16;RDRC ATB(0);RD114 virus receptor;RD114/simian type D retrovirus receptor;baboon M7 virus receptor;neutral amino acid transporter B;neutral amino acid transporter B(0);sodium-dependent neutral amino acid transporter type 2;solute carrier family 1 member 5 APPROVED protein-coding ENSG00000105281 10943 00173 109190 VALIDATED 1349725 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011] 2 2 q13 113119998 113137873 + 113403434 113421402 + 6480464;7207819 21778753 8041748;12761501;18729813;18095154;17494632;17339538;16790504;16527991;15815621;15641067;15489334;12477932;12205090;12097582;11009570;9889306;9528951;8411375;7966619;7929240;2078500;1672162;1531369;1309898;19913121;20628086;19726692;20817733;21048031;16344560;21586110;21796222;19322201;21139048;21890473;21906983;21987572;21963094;21988832;23000965;23308213;22053931;22505724 6574 A7LNJ1;H7BZK4;H7BZY1;H7C227;H7C3Q9;Q8WUM9 ABBA01074252;ABBA01074253;AC079922;AK123420;AK312738;AMYH01010966;BC019944;BC075818;BX647555;CH471217;DB086768;EU043383;L20859;NG_028281;NM_005415 AAA52572;AAH19944;AAH75818;AAY14922;ABM84488;ABM85164;ABS82764;BAG35609;BAG53902;EAW73597;EAW73598;EAW73599;NP_005406;Q8WUM9 Hs.187946;Hs.732750 1655014;1666489;1775797;2139447;2143238 D2S2728;D2S2795;RH46300;RH69666;SHGC-2362 DKFZp686J2397;FLJ41426;GLVR1;Glvr-1;PIT1;PiT-1 OTTHUMP00000161992;gibbon ape leukemia virus receptor 1;leukemia virus receptor 1 homolog;phosphate transporter 1;sodium-dependent phosphate transporter 1;solute carrier family 20 member 1 APPROVED protein-coding ENSG00000144136 10946 08846 137570 REVIEWED 1323543 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 11 11 q13.1 64114858 64126396 + 64358282 64369820 + 1599244;1599245;1580863;6480464;7240710 15634722;12024214 21722610;15304510;15772301;16775029;14694169;19019168;18936980;18824160;18701466;18670416;18492088;18409511;17891652;17891408;17567994;17445045;22797727;16920156;16837472;16385546;16059895;15772829;15338274;15327384;14702039;14531806;12975309;12477932;20714133;19503597;19762362;19833602;19890391;20162742;20162743;23043931;21154327;21614936;21366895;21350910;21148271;16344560;22000646;22132991;22841915;22971602;23129426;23148994;23152669;23291366;21211204;21768215;23544272;22194875;23263486;22942308;21544634 116085 B3KP53;B5ME56;G3XAN7;Q96S37 AB050269;AB071863;ABBA01024150;ABBA01024151;AC044790;AK055737;AK122599;AK309588;AK315061;AMYH01003706;AMYH01003707;AP001092;AY358183;BC026291;BC053348;BX104022;CH471076;DA631511;DQ514593;DQ514594;DQ514595;DQ514596;DQ655912;NG_008110;NM_001276326;NM_001276327;NM_144585;NM_153378 AAH26291;AAH53348;AAK68156;AAQ88550;ABF74570;ABF74571;ABF74572;ABF74573;BAB68364;BAB96750;BAG51565;BAG53617;EAW74271;EAW74272;EAW74273;EAW74274;EAW74275;EAW74276;NP_001263255;NP_001263256;NP_653186;NP_700357;Q96S37 Hs.174424;Hs.700182 1687261;1798860;1799964;1801054;1801106;1807868;1810092;1818208;1818552;1818986;1819158;1832246;1834028;1838404;1969484;1969486;1969488;1969490;1969492;1969494;1969496;1969498;1969500;1969502;1969504;1969506;1969508;1969510;1969512;1969514;1969516;1969518;1969520;1969522;1969524;1969526;1969528;1969530;1969532;1969534;1969538;1969540;1969542;1969544;1969546;1969548;1969550;1969552;1969554;1969556;1969558;1969560;1969562;1969564;1969566;1969568;1969570;1969572;1969574;1969576;1969578;1969580;1969582;1969584;1969586;1969588;1969590;1969592;1969594;2214750;2214752;2214754;2214756 ECD00270;ECD00836;ECD01395;ECD01422;ECD04909;ECD06038;ECD10161;ECD10338;ECD10558;ECD10646;ECD17261;ECD18162;ECD20376;REN55621;REN55622;REN55623;REN55624;REN55625;REN55626;REN55627;REN55628;REN55629;REN55630;REN55631;REN55632;REN55633;REN55634;REN55635;REN55636;REN55637;REN55638;REN55639;REN55640;REN55641;REN55642;REN55643;REN55644;REN55645;REN55646;REN55648;REN55649;REN55650;REN55651;REN55652;REN55653;REN55654;REN55655;REN55656;REN55657;REN55658;REN55659;REN55660;REN55661;REN55662;REN55663;REN55664;REN55665;REN55666;REN55667;REN55668;REN55669;REN55670;REN55671;REN55672;REN55673;REN55674;REN55675;REN55676;RH98949;stSG635523;stSG635524;stSG635528;stSG635529 OAT4L;RST;URAT1 OTTHUMP00000042665;OTTHUMP00000069173;OTTHUMP00000239509;OTTHUMP00000239510;organic anion transporter 4-like protein;renal-specific transporter;solute carrier family 22 (organic anion/cation transporter), member 12;solute carrier family 22 member 12;urate anion exchanger 1;urate transporter 1 APPROVED protein-coding ENSG00000197891 17989 06160 220150;607096 REVIEWED 1353940 SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. [provided by RefSeq, Jul 2008] 11 11 q13.1 64079674 64095575 + 64323098 64338999 + 1580863;6480464 15037815;16236806;10660625;15291761;15102942;19400747;19343046;18985008;18414001;17602283;17229912;16554811;15576633;15489334;14702039;12477932;12024214;12023506;11909604;11907186;11855680;11327718;8125298;20668102;15553237;18501590;19503597;19710015;19861489;19890391;19934028;20015291;20140636;20884846;22753387;23251661;23263486 55867 A6NCG2;H7C0B7;H7C3R9;Q9NSA0 AB026116;ABBA01024152;AC044790;AK075127;AK075224;AK129930;AK222869;AK290791;AK296083;AK309931;AMYH01003706;AP001092;AP006288;BC034384;CH471076;HC007278;NM_018484 AAH34384;AAK68155;ABW03305;ABW03648;BAA95316;BAC11419;BAC11483;BAC85252;BAD96589;BAF83480;BAG58838;CBH19444;EAW74269;EAW74270;NP_060954;Q9NSA0 Hs.220844 1684630;1798180;1800688;1802430;1803688;1804374;1804376;1804590;1804854;1805758;1808850;1811678;1817048;1818918;1823560;1828302;1839638;1843706;1844358;1844668;1969168;1969170;1969172;1969174;1969176;1969178;1969180;1969182;1969184;1969186;1969188;1969190;1969192;1969194;1969196;1969198;1969200;1969202;1969204;1969206;1969208;1969210;1969212;1969214;1969216;1969218;1969220;1969222;1969224;1969226;1969228;1969230;1969232;1969234;1969236;1969238;1969240;1969242;1969244;1969246;1969248;1969250;1969252;1969254;1969256;1969258;1969260;1969262;1969264;1969266;1969268;1969270;1969272;1969274;1969276;1969278;1969280;1969282;1969284;1969286;1969288;1969290;1969292;1969294;1969296;1969298;1969300;1969302;1969304;1969306;1969308;1969310;1969312;1969314;1969316;1969318;1969320;1969322;1969324;1969326;1969328;1969330;2116852;2119121;2147018;2214706;2214708;2214710;2214712;2214714;2214716;2214718;2214720;2214722;2214724;2214726;2214728;2214730;2214732;2214734;5020737 ECD01205;ECD02100;ECD02750;ECD03111;ECD03112;ECD03227;ECD03362;ECD03830;ECD05408;ECD06843;ECD09573;ECD10523;ECD12871;ECD15276;ECD21002;ECD23064;ECD23393;ECD23548;REN55463;REN55464;REN55465;REN55466;REN55467;REN55468;REN55469;REN55470;REN55471;REN55472;REN55473;REN55474;REN55475;REN55476;REN55477;REN55478;REN55479;REN55480;REN55481;REN55482;REN55483;REN55484;REN55485;REN55486;REN55487;REN55488;REN55489;REN55490;REN55491;REN55492;REN55493;REN55494;REN55495;REN55496;REN55497;REN55498;REN55499;REN55500;REN55501;REN55502;REN55503;REN55504;REN55505;REN55506;REN55507;REN55508;REN55509;REN55510;REN55511;REN55512;REN55513;REN55514;REN55515;REN55516;REN55517;REN55518;REN55519;REN55520;REN55521;REN55522;REN55523;REN55524;REN55525;REN55526;REN55527;REN55528;REN55529;REN55530;REN55531;REN55532;REN55533;REN55534;REN55535;REN55536;REN55537;REN55538;REN55539;REN55540;REN55541;REN55542;REN55543;REN55544;RH45115;RH68786;RH70001;RH91263;SHGC-37461;SLC22A11_1938;stSG635496;stSG635497;stSG635498;stSG635499;stSG635500;stSG635501;stSG635502;stSG635503;stSG635504;stSG635505;stSG635506;stSG635507;stSG635508;stSG635509;stSG635510 MGC34282;OAT4;hOAT4 OTTHUMP00000042651;OTTHUMP00000069174;OTTHUMP00000069175;organic anion transporter 4;solute carrier family 22 (organic anion/cation transporter), member 11;solute carrier family 22 member 11 APPROVED protein-coding ENSG00000168065 18120 06161 607097 REVIEWED 1322509 SLC22A15 solute carrier family 22, member 15 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004] 1 1 1 p13.1 114747861 114841388 + 116320642 116413548 + 116519119 116612675 + 1580863;6480464 12975309;12477932;12372408;14702039;20379614 55356 Q8IZD6 ABBA01068482;ABBA01068483;AK055633;AK125072;AL353933;AL357137;AL365318;AMYH01000969;AY145501;AY358258;BC026358;BC030090;BC070033;CH471122;NM_018420 AAH26358;AAN52927;AAQ88625;ABM83293;ABM86502;BAG54132;CAB89246;EAW56640;EAW56641;NP_060890;Q8IZD6 Hs.125482 1645708;1665560;1672538;1692194;1695164;1701650;1710290 AL009272;AL033734;D1S3407;G48222;RH104469;SHGC-75375;SHGC-85251 DKFZp761G0313;FLIPT1;PRO34686 OTTHUMP00000013798;flipt 1;fly-like putative organic ion transporter 1;fly-like putative transporter 1;solute carrier family 22 (organic cation transporter), member 15;solute carrier family 22 member 15;trans-like protein APPROVED protein-coding ENSG00000163393 20301 608275 VALIDATED 1344136 SLC22A16 solute carrier family 22 (organic cation/carnitine transporter), member 16 This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011] 6 6 q22.1 110852599 110904537 - 110745890 110797844 - 6480464 17581421;17559346;17473959;17197897;15963465;14702039;12477932;12384147;12372408;12089149;20037140;20179710;20453000 85413 B4E330;C9JGT0;C9JTF8;C9JU94;Q86VW1 AB055798;ABBA01026118;ABBA01026119;AC002464;AF268892;AI632467;AK057306;AK304546;AL050350;AMYH01016588;AMYH01016589;AY145502;BC012014;BC037247;BC047565;CH471051;NM_033125 AAB67044;AAH12014;AAH47565;AAK58593;AAN52928;ADZ15999;BAB71419;BAC23062;BAG65342;EAW48313;EAW48314;EAW48315;NP_149116;Q86VW1 Hs.520319 1756339;1848298;2154915;2158333;5094014 A010A38;G17048;G33056;RH17540;SHGC-143321 CT2;FLIPT2;OAT6;OCT6;OKB1;dJ261K5.1 OTTHUMP00000017785;OTTHUMP00000017786;WUGSC:RG331P03.1;carnitine transporter 2;flipt 2;fly-like putative organic ion transporter 2;fly-like putative transporter 2;organic cation transporter 6;organic cation transporter OKB1;organic cation/carnitine transporter 6;solute carrier family 22 (organic cation transporter), member 16;solute carrier family 22 member 16 APPROVED protein-coding ENSG00000004809 20302 12202 608276 VALIDATED 1315106 SLC22A14 solute carrier family 22, member 14 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 38283102 38295539 + 38322449 38334863 + 38347445 38359859 + 1580863;6480464 10231028;10072596;15489334;12477932;10213508;20379614;20424473 9389 F5H7H1;Q9Y267 AB011082;AB026898;ABBA01024825;AK130497;AK315317;AMYH01013091;AP006193;BC075070;BC075071;BC126482;BC130543;BC144079;CH471055;NM_004803 AAH75070;AAH75071;AAI26483;AAI30544;ADR83219;BAA76351;BAA77626;BAG37720;EAW64529;NP_004794;Q9Y267 Hs.165559 1659024 D3S3407 MGC163415;OCTL2;OCTL4;ORCTL4 ORCTL-4;OTTHUMP00000161717;OTTHUMP00000209056;OTTHUMP00000209057;organic cation transporter-like 4;organic cationic transporter-like 4;solute carrier family 22 (organic cation transporter), member 14;solute carrier family 22 member 14 APPROVED protein-coding ENSG00000144671 8495 06811 604048 VALIDATED 1315683 SLC22A13 solute carrier family 22 (organic anion/urate transporter), member 13 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008] 3 3 3 p21.3 38242927 38255435 + 38282335 38294810 + 38307298 38319806 + 1580863;6480464 10072596;19282870;18411268;16344560;15489334;12477932;10231028;10213508;19536068;20379614 9390 B4DPK1;H0Y4Y1;Q9Y226 AB010438;AB026898;ABBA01024825;AK298375;AK315301;AMYH01013091;AP000499;AP006193;BC035973;CH471055;DA629093;DA629311;NM_004256 AAH35973;BAA76350;BAA77625;BAG37706;BAG60613;EAW64526;EAW64527;EAW64528;NP_004247;Q9Y226 Hs.225941 2108919 SLC22A13__5428.2 OAT10;OCTL1;OCTL3;ORCTL-3;ORCTL3 OTTHUMP00000161721;organic cation transporter-like 3;organic cationic transporter-like 3;organic-cation transporter like 3;solute carrier family 22 member 13;solute carrier family 22, member 13 APPROVED protein-coding ENSG00000172940 8494 06810 604047 REVIEWED 1348088 SLC22A17 solute carrier family 22, member 17 14 14 14 q11.2 3678238 3684791 - 22885367 22891920 - 23815527 23822080 - 1580863;6480464 18029348;19047093;17253959;16377569;15489334;12477932;21763306;21305251;21184133;22932106;22728279;21139048 51310 H9KVA1;Q8WUG5 ABBA01061320;AJ243122;AJ243653;AK308661;AK311241;AL049829;AMYH01005604;BC020565;BC030559;BC090870;BC111015;BX161416;BX647316;CH471078;DQ658848;NM_016609;NM_020372 AAH20565;AAH90870;AAI11016;ABG45942;ADZ16095;CAC01119;CAC17762;CAD61891;EAW66165;EAW66166;NP_057693;NP_065105;Q8WUG5 Hs.373498 2107585;2150069;2179226 SLC22A17__6842;WI-13550;WI-15014 24p3R;BOCT;BOIT;NGALR;NGALR2;NGALR3;hBOIT 24p3 receptor;NGAL receptor;OTTHUMP00000082690;OTTHUMP00000082691;OTTHUMP00000164598;brain-type organic cation transporter;lipocalin-2 receptor;neutrophil gelatinase-associated lipocalin receptor;potent brain type organic ion transporter;solute carrier family 22 (organic cation transporter), member 17;solute carrier family 22 member 17 protein-coding ENSG00000092096 23095 15349 611461 PROVISIONAL 1352553 SLC22A18AS solute carrier family 22 (organic cation transporter), member 18 antisense 11 11 11 p15.5 2944041 2959889 - 2864750 2877507 - 2909327 2925175 - 6480464 18721868;15489334;15175115;12477932;9570947;9520460 5003 Q8N1D0 ABBA01032078;AC013791;AF035407;AF037066;AMYH01003325;BC030237;CH471158;NM_007105 AAC04789;AAC17497;AAH30237;EAX02526;EAX02527;NP_009036;Q8N1D0 Hs.300076 1699660;1699664;2107587 RH103434;RH103436;SLC22A1LS__6843 BWR1B;BWSCR1B;ORCTL2S;SLC22A1LS;p27-BWR1B Beckwith-Wiedemann region 1B;Beckwith-Wiedemann syndrome chromosome region 1, candidate b;OTTHUMP00000229183;beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein;organic cation transporter-like 2 antisense;organic cation transporter-like protein 2 antisense protein;p27-Beckwith-Wiedemann region 1 B;solute carrier family 22 (organic cation transporter), member 1-like antisense;solute carrier family 22 member 1-like antisense protein;solute carrier family 22 member 18 antisense protein protein-coding 10965 09127 603240 VALIDATED 1350768 SLC22A18 solute carrier family 22, member 18 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010] 11 11 p15.5 2877527 2903052 + 2920951 2946476 + 6480464 9499412;9744804;18996451;16624517;16344560;16314844;15489334;15342556;12477932;11925925;11076855;22153794;9802569;9751628;9570947;9520460;19414484;20201924;20705733;21144813;23514245;21936894;22237119;21890473;21906983;20301425;21963094 5002 E9PMN7;E9PRM7;Q96BI1 AB012083;ABBA01032077;ABBA01032078;AC013791;AF028738;AF030302;AF037064;AF059663;AF070479;AF313150;AL832892;AMYH01003325;AW452749;BC015571;BG489795;BG684685;BM561526;BP350681;CH471158;DA582280;NG_011512;NM_002555;NM_183233 AAB82727;AAC04787;AAC14725;AAC17492;AAC23505;AAH15571;ABW03589;BAA32779;CAH10416;EAX02528;EAX02529;EAX02530;NP_002546;NP_899056;Q96BI1 Hs.50868 1699660;1699664;1791770;5014051;5022200;5037552 D8S2278;D8S2279;L18426;PMC124986P2;RH103434;RH103436 BWR1A;BWSCR1A;DKFZp667A184;HET;IMPT1;ITM;ORCTL2;SLC22A1L;TSSC5;p45-BWR1A Beckwith-Wiedemann syndrome chromosome region 1, candidate A;ORCTL-2;OTTHUMP00000011731;OTTHUMP00000011732;OTTHUMP00000011733;OTTHUMP00000012598;beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein;efflux transporter-like protein;imprinted multi-membrane spanning polyspecific transporter-related protein 1;imprinted multi-membrane-spanning polyspecific transporter-related protein 1;organic cation transporter-like 2;organic cation transporter-like protein 2;p45 Beckwith-Wiedemann region 1A;p45-Beckwith-Wiedemann region 1 A;solute carrier family 22 (organic cation transporter), member 1-like;solute carrier family 22 member 1-like;solute carrier family 22 member 18;tumor-suppressing STF cDNA 5 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein APPROVED protein-coding ENSG00000110628 10964 04024 602631 REVIEWED 1342518 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008] 6 6 q25.3 160557780 160599949 - 160637794 160679963 - 1580863;6480464;7243877;7243180;7243880;7243881;7243878;2312728;7243884;7243882;7243885;7243178;7243177;7243179;7243879;7243883;7244192 21835768;21909718;18612803;18313662;21167265;19356064;19625999;15748710;19002567;23228442;23280877;22414646;20814153;12110012;21154198 9933568;9078256;20067471;20371711;16024787;9260930;19483665;19343046;18728938;18559608;18551044;18508876;18414781;18401339;17971819;17495125;17393420;17220237;17111267;17060063;16990275;16951202;16513443;16368738;16314463;16141367;15817714;15499192;15135235;12538837;12477932;12388397;12142729;12089365;11953440;11483518;11447227;10942111;9687576;9605850;8902060;7690421;1727476;22590580;19913121;20628086;20679960;20682687;18029348;19536068;19833842;20053795;20173083;20383146;20429798;20383145;21128598;22569819;23424657;21346370;21553234;22223530;22085643;22573376;22525860;22735389;21988832;22483271 6582 O15244;Q5T7Q5 AB075951;ABBA01021057;ABBA01021058;AJ251885;AK290787;AL162582;AMYH01016806;AMYH01016807;BC030978;BC039899;CH471051;NM_003058;X98333 AAH30978;AAH39899;BAC02720;BAF83476;CAA66978;CAB96133;EAW47601;EAW47602;NP_003049;O15244 Hs.436385 1786160;1798182 SHGC-81309;SLC22A2_2598 MGC32628;OCT2 OTTHUMP00000017538;hOCT2;organic cation transporter (OCT2);organic cation transporter 2;solute carrier family 22 member 2 APPROVED protein-coding ENSG00000112499 10966 04008 602608 REVIEWED 5135309 SLC22A31 solute carrier family 22, member 31 16 16 16 q24.3 74328395 74332475 - 87789670 87794030 - 89262169 89266529 - 6480464 15616553 146429 A6NKX4 ABBA01014159;ABBA01014160;AC009113;AL137382;AMYH01007927;NM_001242757 A6NKX4;NP_001229686 Hs.447544;Hs.743726 putative solute carrier family 22 member 31;putative solute carrier family 22 member ENSG00000182157 protein-coding 27091 VALIDATED 1602395 SLC22A20 solute carrier family 22, member 20 SLC22A20 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] 11 11 11 q13.1 62307628 62336670 + 64737885 64766133 + 64981311 65010228 + 6480464 17714910;16478971;15869325;15369770;12477932;14702039;16341674 440044 A6NK97 ABBA01024129;ABBA01024130;ABBA01024131;ABBA01024132;AK094565;AK131327;AMYH01003716;AMYH01003717;AMYH01003718;AP000828;AP003068;BC146850;BM826695;CH471076;DN831898;DN831899;DQ053017;DY654625;DY654969;NM_001004326;NR_033396 A6NK97;AAI46851;BAD18487;EAW74372;NP_001004326 Hs.532372 1681754;1685762;1687744;5020274 L18441;RH27707;RH27708;RH98698 FLJ16331;FLJ37246;Oat6 organic anion transporter 6;solute carrier family 22 member 20 APPROVED protein-coding 29867 16913 611696 VALIDATED 1603866 SLC22A24 solute carrier family 22, member 24 SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] 11 11 11 q12.3 60171467 60235772 - 62603988 62668269 - 62847412 62911693 - 6480464 17714910;16189514;12477932 283238 C9JC66;Q8N4F4 ABBA01003253;AMYH01003692;AMYH01003693;AP001858;BC034394;NM_001136506 AAH34394;ABM81754;ABM84909;NP_001129978;Q8N4F4 Hs.375139 1737281 D11S3145 MGC34821;NET46 OTTHUMP00000229553;hypothetical protein mgc34821;solute carrier family 22 member 24 APPROVED protein-coding ENSG00000197658 28542 14591 611698 VALIDATED 1347503 SLC22A23 solute carrier family 22, member 23 SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008] 6 6 6 p25.2 4498122 4685667 - 3214691 3390217 - 3269207 3456793 - 6480464 19422935;19174780;19068216;17714910;12477932;8125298;20379614;21102463;19760754;20886065;20921969;21072187;21906983;23251661 63027 A1A5C7;C9IZW5;C9J4Z0;F8WBC7;H7C4T9 ABBA01048614;ABBA01048615;ABBA01048616;ABBA01048617;AJ420525;AK000691;AK025033;AK025827;AK172770;AK225936;AK308282;AK308943;AL110245;AL160398;AL445309;AL512737;AMYH01016031;AMYH01016032;AMYH01016033;BC022217;BC038748;BC040876;BC090851;BC128580;BC128581;CH471087;NM_015482;NM_021945 A1A5C7;AAH22217;AAH40876;AAI28581;AAI28582;BAB15054;BAB15250;BAD18753;CAB53695;EAW55132;EAW55133;EAW55134;EAW55135;NP_056297;NP_068764 Hs.713588 1646563;1646565;1656088;1656090;1665436;1674551;1698604;1701530;1754447;1758715;1776322;1786148;1787644;1787646;1847747;1855386;2118870;2123609;2126044;2148048;2150870;2171761 A002C03;A005L18;D6S1193E;G17018;G17022;G19913;G20307;HSCZXB092;RH102856;RH104398;RH16218;RH46670;RH46781;RH48236;SHGC-132582;SHGC-149253;SHGC-156009;SHGC-156010;SHGC-36291;SHGC-77744;WI-13800;WI-18225 C6orf85;DKFZp434F011;FLJ22174 OTTHUMP00000015966;OTTHUMP00000213939;OTTHUMP00000213940;OTTHUMP00000213955;OTTHUMP00000213957;OTTHUMP00000213958;chromosome 6 open reading frame 85;ion transporter protein;solute carrier family 22 member 23 APPROVED protein-coding ENSG00000137266 21106 12904 611697 VALIDATED 1606386 SLC22A25 solute carrier family 22, member 25 11 11 11 q12.3 60255372 60321199 - 62687872 62753700 - 62931296 62997124 - 6480464 18466105;17714910;15054140;14702039;12477932 387601 A4IF29;E9PJ86;H0YCA2;H0YCS4;H7BYX8;Q6T423 ABBA01003253;AK091990;AK127610;AMYH01003693;AP001880;AP003420;AY437532;AY517500;BC101314;BC101315;BC101316;BC101317;CH471076;NM_199352 AAI01315;AAI01316;AAI01317;AAI01318;AAI60048;AAR84082;AAS76641;BAC03786;BAC87056;EAW74138;EAW74139;EAW74140;EAW74141;EAW74142;EAW74143;NP_955384;Q6T423 Hs.332119 1666231;2122313;2158968;2173686 G31510;RH46376;RH78704;WI-16867 HIMTP;MGC120420;UST6 OTTHUMP00000229406;OTTHUMP00000229427;organic anion transporter UST6;putative UST1-like organic anion transporter;solute carrier family 22 member 25 protein-coding ENSG00000196600 32935 14198 610792 VALIDATED 1351828 SLC22A3 solute carrier family 22 (organic cation transporter), member 3 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008] 6 6 q25.3 160689415 160796004 + 160769405 160873611 + 70010;1580863;6480464;7243178 9632645;23228442 20371711;17474147;10966924;9933568;19591196;19549807;19423541;19366831;19318432;19219857;19198611;18794092;18295396;18264097;18253050;17477885;14690517;12768439;12538837;12110607;11770002;11682442;11129104;10942111;10196521;9830022;17393420;17010131;16141367;16024787;15135235;14702039;20690139;21493818;12477932;15553237;19789190;19866473;19900942;19902474;20379614;20429798;20450899;20460480;20717903;20878950;21071540;20562519;21242260;23036009;21636115;21905038;21900290;22095909;21697722;22730461;22741436 6581 O75751;Q96KH7 ABBA01021054;AF078749;AI810629;AJ001417;AJ251884;AJ403946;AK096980;AK314590;AL355506;AL591069;AMYH01016807;AMYH01016808;BC144280;BP320971;CH471051;NM_021977 AAD20977;AAI56539;AAI72500;BAG37164;CAA04751;CAB96132;CAC39443;EAW47599;NP_068812;O75751 Hs.567337 1712737;1720291;1761813;1765741;1765743;1789585;1789587;1796806;2116286;2145609;2190377;2217768;7186466 A007E40;D6S2067;EMT_F1R1;EMT_F2R1;EMT_F2R2;PLG_3841;RH121066;RH123894;RH1524;SHGC-145768;SHGC-149174;SHGC-149175;SLC22A3_408 EMT;EMTH;OCT3 EMT organic cation transporter 3;OTTHUMP00000017542;extraneuronal monoamine transporter;organic cation transporter 3;solute carrier family 22 member 3 APPROVED protein-coding ENSG00000146477 10967 05328 604842 REVIEWED 732686 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44817758 44825036 + 43373976 43381254 + 43265998 43273276 + 70525;1580863;6480464;6907045 9650585 22190696;19343046;18216183;16344560;12477932;12023506;11907186;11855680;11327718;10773670;21446918;19854166;22981274;23263486 10864 Q5T047;Q5T051;Q8WWC3;Q9Y694 AA705161;ABBA01050688;AF097518;AF210455;AI928177;AK290796;AK290806;AK309570;AK314822;AL583834;AMYH01016312;AY050498;BC017963;BC033805;CH471081;DA640137;EU562669;NM_006672;NM_153320 AAD37091;AAG43523;AAH17963;AAH33805;AAL12496;ABM84540;ABM87843;ACB21045;BAF83485;BAF83495;BAG37344;EAX04171;EAX04172;EAX04173;EAX04174;EAX04175;EAX04176;NP_006663;NP_696961;Q9Y694 Hs.485438 1778724;1796810 D6S1790;SLC22A7_1483 MGC24091;MGC45202;NLT;OAT2 OTTHUMP00000016426;OTTHUMP00000016428;OTTHUMP00000016429;hOAT2;liver-specific transporter;novel liver transporter;organic anion transporter 2;solute carrier family 22 member 7 APPROVED protein-coding ENSG00000137204 10971 05409 604995 REVIEWED 619572 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q12.3 62500645 62509045 - 62744069 62752495 - 1580863;68822;6480464 9228014 15037815;9950961;19060904;19403644;19400747;19343046;19308960;19088254;19082692;19034961;18818201;18365245;17585018;17502342;17353191;17344191;17038320;16920720;16648942;16189514;16164645;16046403;16024787;15914676;15864112;15284288;15200431;15145940;15039295;14984259;14749323;14702039;14644751;12874449;12477932;12472777;12429554;11855680;10964714;10462545;10049739;9887087;9762842;19854166;19892921;16344560;21164499;21832049;21865262;21945944;22108572 9356 F5H0T7;Q9NQC2 AB009697;AB009698;ABBA01003250;AF057039;AF097490;AF104038;AF124373;AI017670;AJ249369;AJ251529;AJ271205;AK055764;AK091879;AK298374;AMYH01003692;AP001858;BC033682;CH471076;DA628191;DA629600;DB320467;EU567146;NM_004790;NM_153276;NM_153277;NM_153278 AAC70004;AAD10052;AAD19356;AAD55356;AAH33682;ABM83006;ABM86199;ACB21049;BAA75072;BAA75073;BAG51569;BAG52435;BAG60612;CAB77184;CAB94830;CAB97249;EAW74129;EAW74130;EAW74131;EAW74132;NP_004781;NP_695008;NP_695009;NP_695010;Q4U2R8 Hs.369252 2126009 RH78059 FLJ55736;HOAT1;MGC45260;OAT1;PAHT;ROAT1 OTTHUMP00000236796;OTTHUMP00000236797;OTTHUMP00000236798;OTTHUMP00000236799;PAH transporter;hPAHT;hROAT1;organic anion transporter 1;para-aminohippurate transporter;renal organic anion transporter 1;solute carrier family 22 member 6;solute carrier family 22, member 6 APPROVED protein-coding ENSG00000197901 10970 12125 607582 REVIEWED 733281 SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008] 5 5 q31.1 131658044 131707798 + 131630145 131679899 + 6480464;7240710 16361305;16729965;9426230;19412005;19214536;19158815;19141711;19131452;19103559;18804983;18756601;18715515;18709696;18668679;18641280;18614543;18466472;18433468;18338763;18328148;18274826;18162085;18087673;18064451;17786191;17700366;17609685;17609683;17509030;17476680;17451203;17387389;17340776;17213842;17100974;17006998;16835882;16821265;16796743;16773684;16771961;16670523;16652416;16519819;16519742;16469794;16441470;16437728;16373276;16344053;16333318;16255050;16249223;16246312;15955786;15883854;15832501;15795384;15751072;15693005;15685536;15489334;15459889;15184985;15107849;14608356;14531806;12788076;12504088;12477932;12436193;12388627;10215651;9808712;9703985;16344054;22182480;15523054;15553237;19439218;19528813;19536068;19581171;19605748;19656490;19659785;19660151;19814996;19881261;20020740;20031577;20379614;20485362;20224991;20846217;20877624;21102463;22569296;21122496;21910182;21674708;21606177;21695374;21706137;22206629;22325173;21793125;21886157;22412388;21816865;23127916;23128233 6583 Q9H015 AB007448;ABBA01068808;AC008599;AC034220;AK310818;AMYH01015614;AMYH01015615;BC028313;CH471062;CS240059;NG_012129;NM_003059;Y09881 AAH28313;ABM81742;ABM84898;BAA23356;CAA71007;CAJ56219;EAW62340;NP_003050;Q9H015 Hs.310591 1660823;1799788;1800010;1801620;1801960;1802478;1802594;1802664;1806684;1807204;1808158;1809134;1809136;1810242;1811062;1811686;1811858;1812018;1812924;1813072;1815526;1816184;1816186;1816818;1816894;1817650;1818638;1827028;1827786;1828654;1829874;1830238;1830784;1830886;1831150;1831920;1834094;1834478;1834480;1835978;1837744;1838728;1843884;1844132;1844796;1845078;1846106;1846398;1854008;1997502;1997504;1997506;1997508;1997510;1997512;1997514;1997516;1997518;1997520;1997522;1997524;1997526;1997528;1997530;1997532;1997534;1997536;1997538;1997540;1997542;1997544;1997546;1997548;1997550;1997552;1997554;1997556;1997558;1997560;1997562;1997564;1997566;1997568;1997570;1997572;1997574;1997576;1997578;1997580;1997582;1997584;1997586;1997588;1997590;1997592;1997594;1997596;1997598;1997600;1997602;1997604;1997606;1997608;1997610;1997612;1997614;1997616;1997618;1997620;1997622;1997624;1997626;1997628;1997630;1997632;1997634;1997636;1997638;1997640;1997642;1997644;1997646;1997648;1997650;1997652;1997654;1997656;1997658;1997660;1997662;1997664;1997666;1997668;1997670;1997672;1997674;1997676;1997678;1997680;1997682;1997684;1997686;1997688;1997690;1997692;1997694;1997696;1997698;1997700;1997702;1997704;1997706;1997708;1997710;1997712;1997714;1997716;1997718;1997720;1997722;1997724;1997726;1997728;1997730;1997732;1997734;1997736;1997738;1997740;1997742;1997744;1997746;1997748;1997750;1997752;1997754;1997756;1997758;1997760;1997762;1997764;1997766;1997768;1997770;1997772;1997774;1997776;1997778;1997780;1997782;1997784;1997786;1997788;1997790;1997792;1997794;1997796;1997798;1997800;1997802;1997804;1997806;1997808;1997810;1997812;1997814;1997816;1997818;1997820;1997822;1997824;1997826;1997828;1997830;1997832;1997834;1997836;1997838;1997840;1997842;1997844;1997846;1997848;1997850;1997852;1997854;1997856;1997858;1997860;1997862;1997864;1997866;1997868;1997870;1997872;1997874;1997876;1997878;1997880;1997882;1997884;1997886;1997888;1997890;1997892;1997894;1997896;1997898;1997900;1997902;1997904;1997906;1997908;1997910;1997912;1997914;1997916;1997918;1997920;1997922;1997924;1997926;1997928;1997930;1997932;1997934;1997936;1997938;2095852;2095854;2095856;2095858;2095860;2095862;2095864;2095866;2095868;2095870;2095872;2095874;2095876;2095878;2095880;2095882;2095884;2095886;2095888;2095890;2095892;2095894;2095896;2095898;2095900;2095902;2095904;2095906;2095908;2119806;2179348 A004O42;ECD00748;ECD00860;ECD01688;ECD01861;ECD02125;ECD02184;ECD02219;ECD04299;ECD04568;ECD05060;ECD05556;ECD05557;ECD06113;ECD06529;ECD06847;ECD06933;ECD07014;ECD07476;ECD07555;ECD08799;ECD09132;ECD09133;ECD09455;ECD09493;ECD09877;ECD10383;ECD14629;ECD15015;ECD15454;ECD16070;ECD16253;ECD16528;ECD16579;ECD16711;ECD17098;ECD18195;ECD18387;ECD18388;ECD19150;ECD20040;ECD20542;ECD23153;ECD23279;ECD23614;ECD23756;ECD24273;ECD24419;L28271;REN69662;REN69663;REN69664;REN69665;REN69666;REN69667;REN69668;REN69669;REN69670;REN69671;REN69672;REN69673;REN69674;REN69675;REN69676;REN69677;REN69678;REN69679;REN69680;REN69681;REN69682;REN69683;REN69684;REN69685;REN69686;REN69687;REN69688;REN69689;REN69690;REN69691;REN69692;REN69693;REN69694;REN69695;REN69696;REN69697;REN69698;REN69699;REN69700;REN69701;REN69702;REN69703;REN69704;REN69705;REN69706;REN69707;REN69708;REN69709;REN69710;REN69711;REN69712;REN69713;REN69714;REN69715;REN69716;REN69717;REN69718;REN69719;REN69720;REN69721;REN69722;REN69723;REN69724;REN69725;REN69726;REN69727;REN69728;REN69729;REN69730;REN69731;REN69732;REN69733;REN69734;REN69735;REN69736;REN69737;REN69738;REN69739;REN69740;REN69741;REN69742;REN69743;REN69744;REN69745;REN69746;REN69747;REN69748;REN69749;REN69750;REN69751;REN69752;REN69753;REN69754;REN69755;REN69756;REN69757;REN69758;REN69759;REN69760;REN69761;REN69762;REN69763;REN69764;REN69765;REN69766;REN69767;REN69768;REN69769;REN69770;REN69771;REN69772;REN69773;REN69774;REN69775;REN69776;REN69777;REN69778;REN69779;REN69780;REN69781;REN69782;REN69783;REN69784;REN69785;REN69786;REN69787;REN69788;REN69789;REN69790;REN69791;REN69792;REN69793;REN69794;REN69795;REN69796;REN69797;REN69798;REN69799;REN69800;REN69801;REN69802;REN69803;REN69804;REN69805;REN69806;REN69807;REN69808;REN69809;REN69810;REN69811;REN69812;REN69813;REN69814;REN69815;REN69816;REN69817;REN69818;REN69819;REN69820;REN69821;REN69822;REN69823;REN69824;REN69825;REN69826;REN69827;REN69828;REN69829;REN69830;REN69831;REN69832;REN69833;REN69834;REN69835;REN69836;REN69837;REN69838;REN69839;REN69840;REN69841;REN69842;REN69843;REN69844;REN69845;REN69846;REN69847;REN69848;REN69849;REN69850;REN69851;REN69852;REN69853;REN69854;REN69855;REN69856;REN69857;REN69858;REN69859;REN69860;REN69861;REN69862;REN69863;REN69864;REN69865;REN69866;REN69867;REN69868;REN69869;REN69870;REN69871;REN69872;REN69873;REN69874;REN69875;REN69876;REN69877;REN69878;REN69879;REN69880;RH79048;STS-U46120;stSG601175;stSG601177;stSG601178;stSG601179;stSG601181;stSG601182;stSG601184;stSG601185;stSG601186;stSG601187;stSG601189;stSG601190;stSG601191;stSG601192;stSG601193;stSG601196;stSG601197;stSG601198;stSG601199;stSG601202;stSG601203;stSG601204;stSG601205;stSG601206;stSG601207;stSG601208;stSG601209;stSG601210;stSG601211 MGC34546;MGC40524;OCTN1 ET transporter;OTTHUMP00000065971;ergothioneine transporter;integral membrane transport protein;organic cation transporter octn1;organic cation/carnitine transporter 1;solute carrier family 22 member 4 APPROVED protein-coding ENSG00000197208 10968 09171 180300;604190 REVIEWED 1342925 SLC23A4P solute carrier family 23 (nucleobase transporters), member 4, pseudogene 7 7 7 q33 129699443 129735780 - 134612509 134648853 - 134961969 134998313 - 12845532;20042597 641842 AACC02000025;ABBA01001115;AC009542;AMYH01017955;CH236950;NG_006548 SLC23A4 APPROVED pseudo 20602 INFERRED 732952 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010] 11 11 q11 62516872 62539887 - 62760296 62783317 - 1580863;6480464;6907045 17578901;17556638;17502342;16793932;16648942;16455804;16291576;15846473;15644426;15489334;14984259;14586168;12811365;12477932;11912245;11855680;15037815;10049739;19343046;19034961;18414781;17585018;20237588;15342556;16344560;19878671;19956635;21164499;21865262;21945944;22589738;22108572 9376 B2R807;H7BXN9;Q8TCC7 AB042505;AB209692;ABBA01003251;ABBA01003252;ABBA01003253;AF097491;AK298341;AK298351;AK307850;AK313187;AMYH01003692;AP001858;BC022387;BP276255;CH471076;DA628705;DA633836;NM_001184732;NM_001184733;NM_001184736;NM_004254 AAD19357;AAH22387;ABM82943;ABM86133;BAB47393;BAD92929;BAG36004;BAG60589;BAG60596;EAW74133;EAW74134;EAW74135;NP_001171661;NP_001171662;NP_001171665;NP_004245;Q8TCC7 Hs.266223 1646182;1648604;1782238;2218810 D11S4404;SHGC-105128;SLC22A8_2492;WI-14966 MGC24086;OAT3 OTTHUMP00000236800;OTTHUMP00000236801;OTTHUMP00000236802;OTTHUMP00000236803;OTTHUMP00000236804;hOAT3;organic anion transporter 3;solute carrier family 22 ,member 8;solute carrier family 22 member 8 APPROVED protein-coding ENSG00000149452 10972 607581 REVIEWED 733710 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008] 5 5 q23.3 131733343 131759205 + 131705401 131731306 + 1580608;1580609;1580610;1580611;1580863;1624241;6480464;7240710 15487009;15107849;12802501;12408185;3974805 18756601;18715515;18698678;18668679;18646596;18641280;18433468;18338763;18337137;18274826;18162085;18005709;17977516;17786191;17725851;17703373;17509700;17509030;17476680;17451203;17417720;17387389;17340776;17274673;17213842;17100974;17006998;16931768;16835882;16796743;16773684;16771961;16670523;16652416;16519742;16490820;16469794;16441470;16437728;16373276;16361305;16344560;16344054;16344053;16333318;16255050;15955786;15714519;15685536;15647998;15523054;15499185;15489334;15486076;15303004;15238359;14702039;14684825;14665638;14506273;12684216;12477932;12183691;10679939;10612840;10559218;10545605;10480371;10454528;10425211;10072434;9634512;9618255;9685390;9916797;19412005;19343046;19214536;19141711;19131452;19091402;18804983;18762717;22389472;19913121;20558736;20574985;20601676;20628086;15553237;19578876;19581171;19659785;19735486;19814996;20020740;20031577;20208395;20370797;20379614;20485362;20860503;20846217;21102463;21125992;21126579;19238580;21606177;21287663;21695374;21864509;21910182;22325173;22118696;21906983;21706137;21922592;19322201;21793125;22420015;20881960;21963094;22212555;23127916;23128233;23382691 6584 F8WCC9;H7BZC0;H7BZF0;H7C1R8;O76082 AB015050;AB016625;AB209484;AB291606;ABBA01068808;AC004628;AC118464;AF057164;AK128610;AK313230;AMYH01015615;AY429569;BC012325;CH471062;DA186237;DA567722;GN007377;NG_008982;NM_003060 AAC24828;AAH12325;ABM84597;ABM86744;BAA29023;BAA36712;BAC87527;BAD92721;BAF45812;BAG36041;CAX30725;EAW62337;EAW62338;EAW62339;NP_003051;O76082 Hs.443572 1676798;1679339;1735530;1740467;1753883;1796808;1798900;1798932;1799054;1799432;1800844;1801358;1801534;1803042;1803188;1803248;1803554;1803926;1804754;1805994;1806580;1809758;1810324;1820764;1821258;1821922;1824302;1825654;1825976;1827650;1827958;1828308;1828430;1840998;1846176;1998108;1998110;1998112;1998114;1998116;1998118;1998120;1998122;1998124;1998126;1998128;1998130;1998132;1998134;1998136;1998138;1998140;1998142;1998144;1998146;1998148;1998150;1998152;1998154;1998156;1998158;1998160;1998162;1998164;1998166;1998168;1998170;1998172;1998174;1998176;1998178;1998180;1998182;1998184;1998186;1998188;1998190;1998192;1998194;1998196;1998198;1998200;1998202;1998204;1998206;1998208;1998210;1998212;1998214;1998216;1998218;1998220;1998222;1998224;1998226;1998228;1998230;1998232;1998234;1998236;1998238;1998240;1998242;1998244;1998246;1998248;1998250;1998252;1998254;1998256;1998258;1998260;1998262;1998264;1998266;1998268;1998270;1998272;1998274;1998276;1998278;1998280;1998282;1998284;1998286;1998288;1998290;1998292;1998294;1998296;1998298;1998300;1998302;1998304;1998306;1998308;1998310;1998312;1998314;1998316;1998318;1998320;1998322;1998324;1998326;1998328;1998330;1998332;1998334;1998336;1998338;1998340;1998342;1998344;1998346;1998348;1998350;2095928;2095930;2095932;2095934;2095936;2095938;2095940;2095942;2095944;2095946;2095948;2095950;2095952;2095954;2095956;2095958;2095960;2095962;2122234;5016478;5093936 A009Z13;D5S1664E;D5S2265E;ECD00291;ECD00307;ECD00372;ECD00567;ECD01285;ECD01551;ECD01645;ECD02412;ECD02485;ECD02517;ECD02678;ECD02877;ECD03309;ECD03950;ECD04247;ECD05871;ECD06154;ECD11457;ECD11706;ECD12047;ECD13249;ECD13935;ECD14097;ECD14945;ECD15102;ECD15279;ECD15341;ECD21692;ECD24308;G33010;GDB:434012;REN69966;REN69967;REN69968;REN69969;REN69970;REN69971;REN69972;REN69973;REN69974;REN69975;REN69976;REN69977;REN69978;REN69979;REN69980;REN69981;REN69982;REN69983;REN69984;REN69985;REN69986;REN69987;REN69988;REN69989;REN69990;REN69991;REN69992;REN69993;REN69994;REN69995;REN69996;REN69997;REN69998;REN69999;REN70000;REN70001;REN70002;REN70003;REN70004;REN70005;REN70006;REN70007;REN70008;REN70009;REN70010;REN70011;REN70012;REN70013;REN70014;REN70015;REN70016;REN70017;REN70018;REN70019;REN70020;REN70021;REN70022;REN70023;REN70024;REN70025;REN70026;REN70027;REN70028;REN70029;REN70030;REN70031;REN70032;REN70033;REN70034;REN70035;REN70036;REN70037;REN70038;REN70039;REN70040;REN70041;REN70042;REN70043;REN70044;REN70045;REN70046;REN70047;REN70048;REN70049;REN70050;REN70051;REN70052;REN70053;REN70054;REN70055;REN70056;REN70057;REN70058;REN70059;REN70060;REN70061;REN70062;REN70063;REN70064;REN70065;REN70066;REN70067;REN70068;REN70069;REN70070;REN70071;REN70072;REN70073;REN70074;REN70075;REN70076;REN70077;REN70078;REN70079;REN70080;REN70081;REN70082;REN70083;REN70084;REN70085;REN70086;REN70087;RH79575;RH80552;SHGC-89446;SLC22A5_409;stSG601225;stSG601227;stSG601228;stSG601229;stSG601231;stSG601232;stSG601233;stSG601234;stSG601236;stSG601237;stSG601238;stSG601239;stSG601241;stSG601242;stSG601243;stSG601244;stSG601246;stSG601247 CDSP;FLJ46769;OCTN2;OCTN2VT OTTHUMP00000065961;high-affinity sodium dependent carnitine cotransporter;high-affinity sodium-dependent carnitine cotransporter;organic cation transporter 2;organic cation transporter 5;organic cation/carnitine transporter 2;solute carrier family 22 (organic cation transporter), member 5;solute carrier family 22 member 5;solute carrier family 22, member 5 APPROVED protein-coding ENSG00000197375 10969 04539 212140;603377 REVIEWED 735914 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008] 20 20 20 p13 19267475 19777636 + 19141290 19651541 + 19193290 19703541 + 1580863;6480464;7204698 17716241 11780052;11294880;20031604;20379614;21321244;22424883 57419 Q9HC58 ABBA01054060;ABBA01054061;ABBA01054062;ABBA01054063;ABBA01054064;ABBA01054065;ABBA01054066;ABBA01054067;ABBA01054068;ABBA01054069;ABBA01054070;ABBA01054071;ABBA01054072;ABBA01054073;AF169257;AF288087;AL034425;AL049647;AL121761;AL121830;AL136090;AL139429;AL139827;AMYH01011752;AMYH01011753;AMYH01011754;AMYH01011755;AMYH01011756;AMYH01011757;CH471133;NM_020689 AAG12988;AAI41433;EAX10219;EAX10220;NP_065740;Q9HC58 Hs.654790 1653689;1660058;1666373;1704962;1706568;1708072;1712018;1712923;1723211;1729510;1731507;1752985;1770883;1773719;1776022;1784340;2118038;2121877;2129780;2140284;2143867;2145290;2166865;2172143;2173944;2181212 A008U36;AL031192;AL031193;AL031209;D20S1040;D20S139;D20S40;D20S804;G18128;RH118679;RH120551;RH122289;SHGC-102685;SHGC-32038;SHGC-77737;SHGC-77980;SHGC-81264;SHGC-81433;WI-11208;Z94345;Z94352;Z94382;Z94526;Z94579;Z94601;Z94614 NCKX3 Na(+)/K(+)/Ca(2+)-exchange protein 3;OTTHUMP00000030370;sodium calcium exchanger;sodium/potassium/calcium exchanger 3;solute carrier family 24 member 3 APPROVED protein-coding ENSG00000185052 10977 15352 609839 VALIDATED 1343950 SLC22A9 solute carrier family 22 (organic anion transporter), member 9 11 11 q13.1 62893837 62934307 + 63137261 63177731 + 1580863;6480464 12409283;18501590;18466105;18414781;18365245;17393504;17341544;15489334;15037815;14702039;12477932;11327718;10660625;15553237;19371258;20379614;22566634 114571 A4PB24;Q8IVM8 AB062418;AB074812;ABBA01003254;AF440402;AJ295270;AK074246;AMYH01003693;AP000484;AP001880;BC022379;BC126288;CH471076;NM_080866 AAH22379;AAI26289;AAP97316;ADR83039;BAB83517;BAB85030;BAF51552;CAC82910;EAW74146;EAW74147;EAW74148;NP_543142;Q8IVM8 Hs.502772 1677184;1771655;1782512;1849523;2178158;2219696;5093730 A009V38;G32890;RH78712;RH79253;SHGC-37520;SHGC-84429;SLC22A9_2575 FLJ23666;HOAT4;OAT4;OAT7;UST3H;ust3 OTTHUMP00000236911;organic anion transporter 4;organic anion transporter 7;solute carrier family 22 (organic anion/cation transporter), member 9;solute carrier family 22 member 9 protein-coding ENSG00000149742 16261 06982 607579 VALIDATED 1345783 SLC23A3 solute carrier family 23, member 3 2 2 2 q35 213795898 213804533 - 219734431 219742959 - 220026181 220034817 - 1580863;6480464 18391951;14702039;12477932;11181995;7588067;20546612;20368287 151295 B7Z508;C9JQ03;E2QRJ3;F8W735;F8WET7;H7C2A2;Q6PIS1;Q6ZV11 ABBA01023851;AC068946;AK055730;AK298256;AK298277;AMYH01011503;BC030243;CH471063;DC361649;DQ294736;DQ294737;NM_001144889;NM_001144890;NM_144712 AAH30243;ABC17635;ABC17636;ABM81945;ABM85125;BAB70999;BAH12744;BAH12748;EAW70681;EAW70682;EAW70683;NP_001138361;NP_001138362;NP_653313;Q6PIS1 Hs.124565 1699050;1798186;5037552 D8S2279;RH103100;SLC23A3_1795 E2BP3;FLJ31168;SVCT3;Yspl1 E2-binding protein 3;HPC E2-binding protein 3;Na(+)/L-ascorbic acid transporter 3;OTTHUMP00000206280;OTTHUMP00000206283;OTTHUMP00000206287;sodium-dependent vitamin C transporter 3;solute carrier family 23 member 3 APPROVED protein-coding ENSG00000213901 20601 15350 VALIDATED 1342862 SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 5 5 q31.2 138730787 138746900 - 138702885 138719039 - 634186;1580863;6480464 10331392 10395795;17474147;9804989;19527514;19379732;19243932;18818748;18791929;18676680;18636124;18619416;18417304;18247577;18094143;17664139;17008880;16357110;16344560;15993839;15489334;15084584;14702039;12477932;19019335;18845575;12388072;12381735;11984580;11584081;11396616;10631088;10556521;10556483;10471399;22348976;20588054;23014846;11895172;17258485;17575980;19170196;19216494;19625176;19692168;19741195;20453000;20519558;20471816;21733302 9963 H0Y902;H0YAJ1;Q9UHI7 ABBA01068638;AC135457;AF058317;AF098277;AF170911;AF375875;AI478520;AJ250807;AJ269477;AK092655;AK290789;AK298337;AK300935;AMYH01015650;AMYH01015651;BC019225;BC050261;CH471062;DA385445;NM_005847;NM_152685 AAC78804;AAF22490;AAF24759;AAH19225;AAH50261;AAK97398;BAF83478;BAG52585;BAG60585;BAG62564;CAB58119;CAC15384;EAW62106;NP_005838;NP_689898;Q9UHI7 Hs.643467 1780646;2217984 SLC23A1_2967;bac51505T MGC22361;SLC23A2;SVCT1;YSPL3 Na(+)/L-ascorbic acid transporter 1;OTTHUMP00000224289;OTTHUMP00000224290;hSVCT1;sodium-dependent vitamin C transporter 1;sodium-dependent vitamin C transporter-1;solute carrier family 23 (nucleobase transporters), member 2;solute carrier family 23 member 1;yolk sac permease-like molecule 3 APPROVED protein-coding ENSG00000170482 10974 04810 603790 REVIEWED 736859 SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 15 15 q22 63701323 63735652 + 65914270 65948598 + 1580863;6480464;6893550;6907045;7204698 18690016;17716241 12477932;9478004;17474147;7539424;9856482;14770312;12693957;12600216;10662833;10608890;9734811;20850105;20139978;12037007 9187 B4DUG1;F5H127;F5H483;H0YH06;O60721;Q17RM9 AB014602;ABBA01038845;ABBA01038846;ABBA01038847;AC011939;AC027220;AF026132;AF062921;AF062922;AK300633;AK304006;AMYH01006719;BC012630;BC029407;BC117263;BC143375;CH471082;NG_031968;NM_001254740;NM_004727 AAB97832;AAC16732;AAC77912;AAI17264;AAI43376;BAA31677;BAG62323;BAG64922;EAW77739;EAW77740;EAW77741;NP_001241669;NP_004718;O60721 Hs.173092 1649307;1798188;5093586;5491334 A009S19;G32806;PMC150727P6;SLC24A1_1761.2 CSNB1D;HsT17412;KIAA0702;NCKX;NCKX1;RODX Na(+)/K(+)/Ca(2+)-exchange protein 1;OTTHUMP00000237477;OTTHUMP00000237511;OTTHUMP00000237512;retinal rod Na+/Ca+/K+ exchanger;retinal rod Na-Ca+K exchanger;sodium/calcium/potassium exchanger;sodium/potassium/calcium exchanger 1 APPROVED protein-coding ENSG00000074621 10975 04685 603617;613830 REVIEWED 1353786 SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008] 20 20 p13 4781002 4938939 - 4833002 4990939 - 634186;1580613;1580863;6480464 10331392;16357110 9804989;10471399;10556521;19346260;19243932;18845575;18791929;18676680;18636124;18619416;18614995;18247577;17664139;17291984;17092984;17012227;16380174;15993839;15921655;15489334;15340249;15060139;14993613;12477932;12168954;11984580;11780052;11396616;10915794;10748165;10395795;9039502;22348976;20588054;10631088;18417304;19162177;19170196;19216494;19232538;19625176;19692168;19926816;20379614;20453000;21335086;20471816;21733302;21770893;19953087;21139048;21906983;22171153;21988832;23288661 9962 B4DJZ1;H0Y544;Q9UGH3 AB075494;ABBA01053860;ABBA01053861;ABBA01053862;ABBA01053863;AF058319;AF092511;AF164142;AI742576;AJ269478;AJ292318;AK296304;AK297253;AL109841;AL121890;AL389886;AMYH01011689;AMYH01011690;AY380556;BC013112;BC073895;CH471133;D87075;DQ011866;EF032501;NG_029959;NM_005116;NM_203327 AAC78806;AAD11783;AAF80493;AAH13112;AAQ79775;AAY26157;ABK34450;BAA13244;BAG59003;BAG59732;CAB58120;CAC83100;EAX10438;EAX10439;EAX10440;EAX10441;EAX10442;NP_005107;NP_976072;Q9UGH3 Hs.516866 1650195;1670449;1711982;1748767;1764229;1766291;1798184;2163730;2172775 RH118444;RH47957;SHGC-110394;SHGC-147858;SHGC-149645;SLC23A2_2187;T03153;Z94315;Z94337 KIAA0238;NBTL1;SLC23A1;SVCT2;YSPL2 Na(+)/L-ascorbic acid transporter 2;OTTHUMP00000030173;OTTHUMP00000030174;hSVCT2;nucleobase transporter-like 1 protein;sodium-dependent vitamin C transporter 2;sodium-dependent vitamin C transporter-2;solute carrier family 23 (nucleobase transporters), member 1;solute carrier family 23 member 2;yolk sac permease-like molecule 2 APPROVED protein-coding ENSG00000089057 10973 04811 603791 REVIEWED 730928 SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 9 9 p22.1 19505978 19776926 - 19507450 19787017 - 1580863;6480464;6893550;7204698 18690016;17716241 12525183;8889548;19240061;18166528;17164249;17038313;15909993;15611132;15583008;15489334;15196038;15164053;12502543;12477932;10662833;20231282;17172467;17286855;17303823;17303830;17332073;17446453;17446491;19734545;23224872 25769 Q9UI40 ABBA01065193;ABBA01065194;ABBA01065195;ABBA01065196;AF097366;AF177987;AK127092;AL133281;AL158077;AL158206;AMYH01019271;BC037528;BC069622;BC143889;BU736451;CH471071;DQ067462;DQ067463;DQ067464;NG_029734;NM_001193288;NM_020344 AAF21810;AAF25811;AAH69622;AAI43890;EAW58633;NP_001180217;NP_065077;Q9UI40 Hs.283014;Hs.590750;Hs.738749 1340615;1341030;1650342;1698982;1711384;1724123;1724599;7183406 D9S162;D9S1684;G42174;RH103060;RH119062;RH121296;SHGC-7540 FLJ45149;NCKX2 Na(+)/K(+)/Ca(2+)-exchange protein 2;OTTHUMP00000021125;OTTHUMP00000021126;retinal cone Na-Ca+K exchanger;sodium/potassium/calcium exchanger 2;solute carrier family 24 member 2 APPROVED protein-coding 10976 15351 609838 REVIEWED 1321543 SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 25305700 25327109 + 46200461 46221881 + 48413169 48434589 + 6480464;7204698 17716241 16357253;19384953;19336370;19060277;18650849;18637132;18166528;17999355;17952075;17081065;16847698;15489334;14625281;12477932;19944766;20691427;23364476;23224873 283652 H0YLZ0;Q71RS6 ABBA01039143;AC090526;AF348468;AMYH01006628;BC073944;BC113628;BC113630;BC143950;CH471082;DQ665306;DQ665307;NG_011500;NM_205850 AAH73944;AAI13629;AAI13631;AAI43951;AAQ15116;ABG66958;ABG66959;ADR83033;EAW77335;NP_995322;Q71RS6 Hs.710240 1665883;1754565;1796380;1850922;2125790;2150842 MYEF2_1816;RH45837;RH78227;SHGC-132846;SHGC-53423;STS-N31726 JSX;NCKX5;OCA6;SHEP4 Na(+)/K(+)/Ca(2+)-exchange protein 5;OTTHUMP00000162219;ion transporter JSX;oculocutaneous albinism 6 (autosomal recessive);sodium/potassium/calcium exchanger 5;solute carrier family 24 (sodium/potassium/calcium exchanger), member 5;solute carrier family 24, member 5 APPROVED protein-coding ENSG00000188467 20611 18055 113750;609802 REVIEWED 1314247 SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 14 14 14 q32.12 72841198 73019912 + 91858678 92032349 + 92788925 92967825 + 6480464;7204698 17716241 18483556;17952075;15489334;14702039;12477932;12379639;20585627;21546767;19609347;19710684;20379614;21126331;23548203;23375655 123041 G3V505;H0YCX3;Q8NFF2 ABBA01030454;AF520704;AF520705;AF520706;AK096171;AK295059;AK295234;AL118559;AL834225;AMYH01005958;AMYH01005959;BC034805;BC037863;BC050357;BC069653;BX648995;CH471061;NG_023408;NM_153646;NM_153647;NM_153648 AAH69653;AAM76070;AAM76071;AAM76072;BAC04715;BAG58108;BAG58227;CAD38903;EAW81485;EAW81486;EAW81487;EAW81488;EAW81489;NP_705932;NP_705933;NP_705934;Q8NFF2 Hs.385530 1335644;1340777;1707912;1753457;1772737;1775995;1858285;2159858;2160065;5016781;5022651 D11S2921;D14S1016;D14S1050;FB12B12;G35718;G35860;SHGC-107410;SHGC-31732;SHGC-67307;SHGC-82207;STS-M79260 FLJ38852;NCKX4;SHEP6;SLC24A2 Na(+)/K(+)/Ca(2+)-exchange protein 4;OTTHUMP00000236276;OTTHUMP00000236277;OTTHUMP00000236278;OTTHUMP00000236279;sodium/potassium/calcium exchanger 4;solute carrier family 24 member 4 APPROVED protein-coding 10978 15353 210750;609840 REVIEWED 6480846 SLC25A14P1 solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1 4 q21.23 84398674 84399574 + 100288343 ABBA01063465;AC096768;AMYH01014359;NG_030222 pseudo 43856 INFERRED 1350550 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 17 17 17 q25.3 76324691 76333300 + 77289776 77298447 + 79679266 79688046 + 634162;1580863;6480464 9733776 16303743;16189514;16043481;16027120;15489334;12477932;10585886;10072589;15117959;20949348;21437236;22354994;19447967;18029348;20877624;20562859;19060904;21555518;22939629;22990118;19167051;20186120;21139048;21890473;21987572;22178446;14970193;19622634;20921139;23266187;23455922;23464991;23752268;23259602 1468 B4DLN1;B4E1E9;I3L1E8;I3L3N9;Q9UBX3 ABBA01032160;ABBA01032161;AC139530;AI081980;AJ131612;AJ131613;AK075249;AK303808;AMYH01008718;BC007355;BC015797;BM561945;CH471099;CQ783360;HY259124;NM_001270888;NM_001270953;NM_012140 AAH07355;AAH15797;ABM84189;ABM87591;BAC11497;BAG64761;CAB59892;CAB60007;CAF86566;EAW89681;EAW89682;NP_001257817;NP_001257882;NP_036272;Q9UBX3 Hs.548187 1682299 RH94066 DIC dicarboxylate ion carrier;mitochondrial dicarboxylate carrier;solute carrier family 25 member 10 APPROVED protein-coding ENSG00000183048 10980 08424 606794 REVIEWED 1348384 SLC25A15P1 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 1 Y Y 9663818 9669623 + 28732792 28733711 - 100422624 ABBA01015480;AC019099;NG_024787 5116754 sY3165 SLC25A15P;SLC25A15PY1 APPROVED pseudo 18497 INFERRED 6480903 SLC25A15P2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 2 13 19989408 19989572 + 100874522 ABBA01068555;AL356259;AMYH01004937;NG_032358 pseudo 39843 INFERRED 5130637 SLC25A15P3 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 3 13 13 6581271 6582193 + 25517713 25518635 + 100422635 ABBA01007897;AL354798;AMYH01004978;NG_024903 pseudo 39844 INFERRED 5130636 SLC25A15P4 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 4 21 10899078 10900002 + 100422636 ABBA01155612;AF254982;AMYH01012129;NG_025052 pseudo 39845 INFERRED 5130635 SLC25A15P5 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 5 22 22 748733 749655 - 17126582 17127504 - 100422642 ABBA01001464;AMYH01012421;AP000365;NG_027407 pseudo 39846 INFERRED 1343333 SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 The mitochondrial tricarboxylate transporter (also called citrate transport protein, or CTP) is responsible for the movement of citrate across the mitochondrial inner membrane (Kaplan et al., 1993 [PubMed 8514800]).[supplied by OMIM, Jan 2011] 22 22 q11.21 17543095 17546285 - 19163088 19166338 - 1580863;6480464 22355067;20448665;8666394;17353931;19445897;19240061;18706393;15489334;12477932;9254007;8776594;8660975;19505435;19654186;8514800;23561848;20877624;8944226;22939629;21787310;17314511;19167051;20186120;21660517;15342556;21139048;21890473;21906983;21987572;22178446;8889548;21081666;22286219;15576338;23266187;23455922;23464991;19738201;21103663;22916037;22797925 6576 B4DP62;D9HTE9;P53007 ABBA01005421;AC004463;AK292313;AK298204;AMYH01012476;AW249250;BC004980;BC008061;BC018590;BG473148;BI159897;BI160240;BI560375;BM679710;BP265446;CH471176;DR006840;HM037273;L75823;L76134;L77567;NM_001256534;NM_005984;NR_033687;NR_046298;U25147;X96924 AAB08515;AAH04980;AAH08061;AAL40090;AAL40091;ABM83842;ABM87164;ABM87169;ADI78884;BAF85002;BAG60474;CAA65633;EAX03048;EAX03049;EAX03050;EAX03051;NP_001243463;NP_005975;P53007 Hs.111024 1656539;2110741;2112182;2112418;2149363 D22S1571;D22S1621;G19115;SGC31622;SLC25A1_7880 CTP;D2L2AD;SEA;SLC20A3 OTTHUMP00000196366;OTTHUMP00000196405;citrate transport protein;solute carrier family 20 (mitochondrial citrate transporter), member 3;solute carrier family 25 member 1;tricarboxylate carrier protein;tricarboxylate transport protein, mitochondrial APPROVED protein-coding ENSG00000100075 10979 01832 190315;615182 VALIDATED 1313056 SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012] 2 2 q24 172349126 172458979 - 172639915 172750816 - 1358576;1580863;6480464;7240710 15056512 11566871;9722566;19598235;19401682;19360665;18996845;18607376;18348195;18180767;17894412;17693006;17497669;17237342;17151801;16648338;16263864;16205742;16122696;15494407;14702039;12477932;10965105;10702666;10369257;17353931;19058789;19041431;19913066;20877624;17500595;22939629;19641205;21609426;17314511;20186120;21691713;18781797;22178446;22304920;23266187;21890473;21906983;18729074;22505724 8604 B3KR64;B4DGK6;F8W9J0;H0YFB2;O75746 ABBA01020729;AC068039;AJ496568;AK022828;AK054941;AK091071;AK294638;AMYH01011262;AMYH01011263;BC016932;CH471058;DN993435;NG_011781;NM_003705;NR_047549;Y14494 AAH16932;AAY24134;ABM82466;ABW03408;BAG51120;BAG52276;BAG57817;CAA74834;CAD43090;EAX11196;EAX11197;NP_003696;O75746 Hs.470608 1337028;1728747;1761205;2217986 D2S2381;G54269;SHGC-145217;SLC25A12_3281 AGC1;ARALAR OTTHUMP00000165848;araceli hiperlarga;calcium binding mitochondrial carrier superfamily member Aralar1;calcium-binding mitochondrial carrier protein Aralar1;mitochondrial aspartate glutamate carrier 1;solute carrier family 25 (mitochondrial carrier, Aralar), member 12;solute carrier family 25 member 12 APPROVED protein-coding 10982 04719 603667;612949 REVIEWED 732504 SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011] 17 17 p13.3 4781349 4784063 - 4840425 4843462 - 1580863;6480464 16920706;1457818;15489334;12939596;12477932;10072597;9639574;9110174;8769314;8619474;8597574;16169070;20562859;19615732;16712791;19913121;20628086;17082780;20877624;22990118;21448454;22939629;17314511;20186120;18781797;21081666;21987572;22678362;23054077;23246001;21139048;21500544;21890473;21906983;23266187;23455922;23464991;22505724 8402 I3L1P8;Q02978;Q6IBH0 AA937945;ABBA01054784;AC004771;AC109333;AF070548;AK290376;AK313010;AMYH01008043;BC006508;BC006519;BC016294;BC016473;BC017170;BI752999;BM047391;CB155476;CH471108;CR456834;NM_001165417;NM_001165418;NM_003562;X66114 AAC28637;AAH06508;AAH06519;AAH16294;AAH17170;ABM82078;ABM85257;BAF83065;CAA46905;CAG33115;EAW90389;EAW90390;EAW90391;EAW90392;NP_001158889;NP_001158890;NP_003553;Q02978 Hs.184877 1768417;2108921;2134420;2178189;2189363 MARC_2889-2890:991933627:9;RH11767;SHGC-31613;SLC25A11_3257.2;STS-T79192 OGC;SLC20A4 2-oxoglutarate carrier;OGCP;OTTHUMP00000216308;mitochondrial 2-oxoglutarate/malate carrier protein;solute carrier family 20 (oxoglutarate carrier), member 4;solute carrier family 25 member 11 APPROVED protein-coding ENSG00000108528 10981 05003 604165 VALIDATED 736693 SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. The gene product has an N-terminal hydrophobic domain that is not present in other UCPs. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008] X X q24 129301728 129335016 + 129474047 129507335 + 1580863;6480464 11701769;9852133;18018477;17066476;16941493;15772651;15489334;12975309;12477932;12051969;10928996;10772343;10620491;19910678;22087257;22524567;23266187 9016 B4DJN2;B4DMK1;O95258;Q5JY88 ABBA01047920;ABBA01047921;ABBA01047922;ABBA01047923;ABBA01047924;AF078544;AF155809;AF155810;AF155811;AK296155;AK297499;AK309433;AL035423;AMYH01022973;AY358099;BC119666;BC119667;CH471107;NG_012850;NM_003951;NM_022810 AAD04346;AAG29582;AAG29583;AAG29584;AAI19667;AAI19668;AAQ88466;BAG58894;BAG59913;EAX11801;EAX11802;EAX11803;EAX11804;NP_003942;NP_073721;O95258 Hs.194686 1848544;1849593 DXS8293;WI-13677 BMCP1;MGC149543;UCP5 BMCP-1;OTTHUMP00000024012;OTTHUMP00000024013;OTTHUMP00000024014;UCP 5;brain mitochondrial carrier protein 1;mitochondrial uncoupling protein 5;solute carrier family 25 member 14 APPROVED protein-coding ENSG00000102078 10984 02214 300242 REVIEWED 6480837 SLC25A1P1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 1 11 q14.2 85645780 85646693 + 100131457 ABBA01017331;AMYH01003848;AP000767;AP003128;NG_021826 1656539 SGC31622 pseudo 43845 INFERRED 6480839 SLC25A1P2 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 2 7 q11.21 62857832 62859970 + 100133079 ABBA01018529;AC073188;AMYH01017381;NG_009439 pseudo 43847 INFERRED 6480834 SLC25A1P3 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 3 7 q11.21 63391465 63392611 + 9847074 644159 ABBA01027967;AC092634;AMYH01017427;NG_009405 pseudo 43846 INFERRED 6480838 SLC25A1P4 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 4 16 p11.2 34407928 34408462 + 100132355 ABBA01002118;AC023824;AMYH01007634;NG_022513 1688052 RH18236 pseudo 43848 INFERRED 6480833 SLC25A1P5 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 5 19 q11 28296335 28297116 - 642290 ABBA01039519;AC006504;AMYH01009663;NG_021745 1703248;1718917;1752015 RH123164;SGC32471;SHGC-105994 pseudo 43849 INFERRED 1323000 SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 7 7 q21.3 95587468 95789341 - 95749532 95951459 - 1599241;1599242;1580863;6480464;7240710 10369257;11153906 21424115;11566871;10642534;12851387;19401682;19232506;19036621;18620775;18392553;17982687;17092749;17000460;16928234;16344560;16278034;16059747;15489334;12853948;12477932;12424587;12111366;11793471;11432966;11343052;11281457;10610724;8125298;20458766;20739017;21134364;18578996;20614727;20233664;18029348;20877624;20927635;19596235;19598235;19615732;20376801;20379614;22939629;23022256;21507300;23067347;21252943;23266187;23455922;23464991;19517266;23798571;18958581;22360420;22178446;17314511;19167051;20186120;16196087;21470889;20301360;21139048;21890473;21914561;22277121;22487826;22586326;15174051;21706016;22304920;22504420;22797925 10165 F5GX33;Q9UJS0;R4GN64 AACC02000013;ABBA01045770;ABBA01045771;ABBA01045772;ABBA01045773;ABBA01045774;AC002450;AC002540;AC004458;AC084368;AC096775;AF118838;AJ496569;AK000766;AK025227;AK025779;AK222864;AK294629;AMYH01017701;BC006566;CH236949;CH471091;DA118296;DA696723;NG_012247;NM_001160210;NM_014251;NR_027662;Y17571 AAB67049;AAB70112;AAD38501;AAH06566;AAS07441;AAS07513;AAS07527;ABM83777;ABM87097;BAD96584;BAH11828;CAB62206;CAD43091;EAW76748;EAW76749;NP_001153682;NP_055066;Q9UJS0 Hs.489190 1336536;1779358;1849967;1933716;2119246;2135930;2140606;2187131;2187154 A006W14;D7S1812;D7S2374;REN37691;SHGC-153354;SHGC-35735;SHGC-37627;SHGC-53039;SHGC-56158 ARALAR2;CITRIN;CTLN2 OTTHUMP00000024692;calcium-binding mitochondrial carrier protein Aralar2;mitochondrial aspartate glutamate carrier 2;solute carrier family 25 member 13;solute carrier family 25, member 13 (citrin) APPROVED protein-coding ENSG00000004864 10983 04837 603471;603859;605814 REVIEWED 1322697 SLC25A16 solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008] 10 10 10 q21.3 63517479 63563049 - 69912103 69957590 - 70242090 70287280 - 1580863;6480464 2575220;14702039;12477932;11158296;8444471;1457817;16385451;20379614;20877624;16344560;8889548;23266187 8034 B4DPV4;P16260 ABBA01019568;ABBA01019569;ABBA01019570;ABBA01019571;ABBA01019572;ABBA01019573;ABBA01019574;AK123772;AK290255;AK295287;AK298510;AL136233;AL713888;AMYH01002802;BC001407;BC030266;BE280946;BU618210;BU684567;CH471083;DA023888;M31659;NM_152707 AAA36329;AAH30266;ABM82636;ABM85813;BAF82944;BAG58271;BAG60716;EAW54298;NP_689920;P16260 Hs.180408 1855016;2181310 RH44947;RH66142 D10S105E;GDA;GDC;HGT.1;MGC39851;ML7;hML7 OTTHUMP00000019707;graves disease autoantigen;graves disease carrier protein;mitochondrial solute carrier protein homolog;solute carrier family 25 member 16 APPROVED protein-coding 10986 00740 139080 REVIEWED 1347032 SLC25A20P1 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 1 6 6 6 p12 53772292 53774024 + 52219046 52220961 + 52111169 52112902 + 789 ABBA01050558;AJ000401;AL034343;AMYH01016349;NG_001087;NG_031869 CACTP;SLC25A20P APPROVED pseudo 1422 INFERRED 1322973 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009] 13 13 q14 40261597 40282246 + 41363547 41386596 + 1599239;1599240;1580863;6480464;7240710 10369256;10805333 22262851;18978333;17825324;16376511;16256388;15498874;15489334;14759633;12807890;12477932;11814739;11668643;11552031;11355015;8889548;20574716;19242930;20877624;23266187;21139048;21890473;22292090;19322201;22465082;23266558;22649802 10166 F2Z354;Q5VZD9;Q9Y619 AA948095;ABBA01021288;AF112968;AF177333;AJ309943;AK296862;AK313602;AL161614;AL538057;AMYH01005057;BC002702;BI461478;BU726339;CH471075;DB505424;NG_012248;NM_014252 AAD45238;AAG17977;AAH02702;ABM83930;ABM87249;BAG36368;BAG59425;CAC83972;EAX08630;NP_055067;Q9Y619 Hs.646645 1672308;1798190;5015861;5015961;5022322;5022578;5037552;5109281;5117897;7185938 D10S16;D11S2560;D15S1477;D1S1423;D1S1425;D8S2279;GDB:631813;RH17529;SLC25A15_1851 D13S327;HHH;ORC1;ORNT1 OTTHUMP00000018304;OTTHUMP00000178580;mitochondrial ornithine transporter 1;ornithine transporter 1;solute carrier family 25 member 15 APPROVED protein-coding 10985 04838 238970;603861 REVIEWED 1347291 SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 Located between the protocadherin beta and gamma gene clusters on chromosome 5, this intronless gene encodes a protein that is highly similar to an ornithine transporter localized in the mitochondrial inner membrane. The encoded protein most likely plays a role in metabolism as a mitochondrial transport protein. [provided by RefSeq, Jul 2008] 5 5 5 q31 136759021 136760437 - 140662380 140663796 - 140682196 140683612 - 1580863;6480464 19240061;12948741;12807890;12477932;11230163;11004451;10716726;10380929;20877624;23266187;22262851;23251661 83884 Q9BXI2 ABBA01026417;AC005618;AF332005;AF378119;AMYH01015661;AY208943;BC069458;BC100935;BC100936;BC100937;CH471062;NG_000012;NM_031947 AAH69458;AAI00936;AAI00937;AAI00938;AAK26320;AAM94902;AAO31753;EAW61967;NP_114153;Q9BXI2 Hs.97647 1682692;2107593;5492411 RH92610;SLC25A2__6844;UniSTS:480968 MGC119151;MGC119153;ORC2;ORNT2 OTTHUMP00000160004;mitochondrial ornithine transporter 2;ornithine transporter 2;solute carrier family 25 member 2 APPROVED protein-coding ENSG00000120329 22921 12180 608157 REVIEWED 1350192 SLC25A18 solute carrier family 25 (glutamate carrier), member 18 22 22 22 q11.2 1665610 1693397 + 16423183 16453647 + 18043183 18073647 + 1580863;6480464 15489334;15461802;14702039;12477932;11897791;11566871;11381032;20877624;22395867;20186120;21890473;23266187 83733 Q9H1K4 ABBA01001444;ABBA01001445;AC004019;AJ428203;AK095706;AK308974;AK309110;AMYH01012435;AY008285;BC016954;BC031644;CH471193;CR456578;NM_031481 AAG22855;AAH31644;ABM84586;ABM86585;CAD21008;CAG30464;CAK54610;CAK54909;EAW57760;EAW57761;NP_113669;Q9H1K4 Hs.282982;Hs.629929 1672162;2140359;5020946;5022651;5024272;5037552;5109317 A004F12;D11S2921;D22S1005E;D22S586;D2S1254;D8S2279;L17971 GC2 GC-2;OTTHUMP00000196211;OTTHUMP00000196212;glutamate/H(+) symporter 2;mitochondrial glutamate carrier 2;solute carrier family 25 (mitochondrial carrier), member 18;solute carrier family 25 member 18 APPROVED protein-coding ENSG00000182902 10988 15355 609303 PROVISIONAL 1322988 SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. [provided by RefSeq, Sep 2011] 22 22 22 q13.2 24969310 25019057 - 39495582 39545338 - 41165636 41215392 - 1580863;6480464 10704444;9874197;15489334;15461802;14709540;14702039;12477932;12445829;10591208;11402059;8889548;11121399;16756494;22939629;22185573;21139048;21890473;21963094;23266187 10478 B0QYW5;B1AHN4;B4DU97;F2Z2I9;F5GYD1;F8WA85;F8WBA4;F8WCH6;F8WCN9;F8WE74;F8WEC6;F8WF87;O43808 ABBA01055609;AK094062;AK292924;AK298215;AK300553;AL049764;AMYH01012794;AMYH01012795;BC005957;BC012998;BC024741;BC039064;BU595416;BU686766;BX647991;CH471095;CQ871242;CR456577;NM_006358;Y12860;Z98048 AAH05957;AAH12998;ABM84064;ABM87421;BAF85613;BAG60485;BAG62259;CAA73367;CAG30463;CAH56802;CAK54609;CAK54908;EAW60389;EAW60390;EAW60391;EAW60392;EAW60393;NP_006349;O43808 Hs.474938 1653112;1674832;1679607;1683555;1796812;1852564;1856655;2137875;2185724 A004I16;D22S1200;D22S588;RH46061;RH80474;SGC35084;SGC38343;SHGC-52894;SLC25A17_724 PMP34 34 kDa peroxisomal membrane protein;OTTHUMP00000199227;OTTHUMP00000199240;peroxisomal membrane protein (34kD);peroxisomal membrane protein PMP34;solute carrier family 25 member 17 APPROVED protein-coding ENSG00000100372 10987 08425 606795 VALIDATED 732535 SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008] 3 3 p21.31 48869368 48911333 - 48894356 48936426 - 1580863;2317584;6480464;7240710 19430727 9399886;11257506;16054041;18307102;17508264;15515015;15489334;15365988;15057979;12859414;12477932;11592821;10697964;10384384;9837782;9733094;9686371;9533014;1598097;16169070;19748481;20877624;21130740;18029348;21890473;22560224;23178685;23266187;23322164 788 B4DWZ5;C9JPE1;F8WEF6;O43772 ABBA01024626;ABBA01024627;ABBA01024628;ABBA01024629;AC134028;AK301744;AK312962;AMYH01013153;BC001689;BI913588;BQ018220;CH471055;DC360427;NG_008171;NM_000387;Y10319;Y17775 AAH01689;ABM83525;ABM86754;BAG35801;BAG63207;CAA71367;CAB55356;EAW64929;NP_000378;O43772 Hs.13845 1687171;1735174 D3S2821E;RH64842 CAC;CACT OTTHUMP00000164819;OTTHUMP00000210385;carnitine/acylcarnitine carrier protein;carnitine/acylcarnitine translocase;mitochondrial carnitine/acylcarnitine carrier protein;solute carrier family 25 member 20 APPROVED protein-coding ENSG00000178537 1421 01953 212138;613698 REVIEWED 7247658 SLC25A24P1 SLC25A24 pseudogene 1 20210993 727941 ABBA01068345;AL359258;NG_027806 pseudo 48933 INFERRED 7247675 SLC25A24P2 SLC25A24 pseudogene 2 100422608 AL390038;BX323851;BX649306;NG_026966 pseudo 48934 INFERRED 1343771 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 q25.3 70780669 70797109 - 73269061 73285530 - 1624242;1580863;6480464;7240710 12185364 11226231;18280798;17035501;16344560;16303743;15539640;15489334;14702039;12477932;11474176;8889548;8125298;19798730;20877624;20301539;21139048;21890473;23266187 60386 E9PF74;J3KRY6;J3KS44;J3KSB1;J3KSI7;J3KTL0;J3QL84;J3QLV3;J3QS02;Q5JPC1;Q9HC21 AA743427;ABBA01028805;ABBA01028806;AC022211;AF182404;AJ251857;AJ301616;AK075239;AK097882;AK225881;AL833387;AMYH01008633;AY346372;BC001075;BC005120;BM455504;BU177306;BU607955;CH471099;CQ783884;DA605220;DB482052;NG_008274;NM_001126121;NM_001126122;NM_021734 AAG16903;AAH01075;AAH05120;AAQ54327;ABM83686;ABM86983;BAC11492;BAG53545;CAC27560;CAC37793;CAF86907;CAI46136;EAW89267;EAW89268;EAW89269;NP_001119593;NP_001119594;NP_068380;Q9HC21 Hs.514470 1739883;1758141;2132382;2217988 D17S1769;SHGC-147512;SHGC-64319;SLC25A19_1610 DNC;MCPHA;MUP1;THMD3;THMD4;TPC microcephaly, Amish;mitochondrial thiamine pyrophosphate carrier;mitochondrial uncoupling protein 1;solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 APPROVED protein-coding ENSG00000125454 14409 08405 606521;607196;613710 REVIEWED 7244904 SLC25A21-AS1 SLC25A21 antisense RNA 1 12477932;14702039 100129794 ABBA01061530;AK057476;AL079304;AMYH01005677;BC012470;BC040167;BC053597;CH471078;NR_033240 EAW65852 Hs.601579 2117098;2165290;5093524 A009Q12;G32768;RH45291 miscrna ENSG00000258708 44298 VALIDATED 1343183 SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 19 19 19 p13.3 6379913 6399607 - 6391075 6410781 - 6440075 6459781 - 1580863;6480464 14702039;15801905;15716113;15123600;15054102;21145461;12477932;17207965;20877624;21906983;19322201;23266187 79085 E7ESZ5;M0QZJ5;M0QZP9;M0QZT4;M0R1W8;M0R1X8;M0R2F3;M0R2I4;Q9BV35 ABBA01055956;ABBA01055957;ABBA01055958;AC010503;AJ512835;AJ619962;AJ619988;AJ879080;AJ879081;AJ879082;AJ879083;AK027562;AK054901;AK074579;AK294514;AK295484;AMYH01009372;AW379976;AY750170;BC001656;BG706035;CH471139;NM_024103 AAH01656;AAU95077;ADQ32408;BAB70825;BAC11071;BAG57727;BAG58407;CAD55563;CAF04059;CAF04494;CAI51682;CAI51683;CAI51684;CAI51685;EAW69087;EAW69088;EAW69089;NP_077008;Q9BV35 Hs.356231;Hs.732434 1682329 RH78554 APC2;MCSC2;MGC2615;SCaMC-3 calcium-binding mitochondrial carrier protein SCaMC-3;mitochondrial ATP-Mg/Pi carrier protein 2;mitochondrial Ca(2+)-dependent solute carrier protein 2;mitochondrial Ca2+-dependent solute carrier protein 2;short calcium-binding mitochondrial carrier 3;small calcium-binding mitochondrial carrier protein 3;solute carrier family 25 member 23 protein-coding ENSG00000125648 19375 16381 608746 VALIDATED 1350119 SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004] 14 14 14 q11.2 17010674 17505455 - 36218829 36711616 - 37147126 37641865 - 727306;1580863;6480464 11083877 19240061;15489334;12477932;19913121;20628086;20877624;20379614;23266187 89874 Q9BQT8 ABBA01061528;ABBA01061529;ABBA01061530;AJ278148;AK289575;AL079303;AL079304;AL121775;AL162464;AMYH01005674;AMYH01005675;AMYH01005676;AMYH01005677;BC101521;BC113365;CH471078;HB883165;HC940574;NM_001171170;NM_030631 AAI01522;AAI13366;ADR82918;BAF82264;CAC27562;CBF65810;CBU90681;EAW65851;NP_001164641;NP_085134;Q9BQT8 Hs.730857 1336043;1340987;1656172;1657066;1660730;1661938;1704086;1704682;1721817;1750689;1753481;1756273;1775983;1776225;1783114;1783116;1798192;2117098;2122788;2129928;2138793;2142795;2144583;2146338;2149232;2162283;2162995;2165290;2166221;2167418;2190349;5093524 A009Q12;AFM200zh4;AFM205XG5;CGR69;D14S75;D1S2669;G28439;G32768;G35715;G35886;G35933;G36153;G36231;G59933;RH44677;RH45291;RH45413;RH47829;RH68675;RH69748;RH70116;SHGC-107416;SHGC-112171;SHGC-143178;SHGC-156135;SHGC-156136;SHGC-52477;SHGC-56765;SHGC-78994;SHGC-83358;SLC25A22_1677;WI-16969 MGC126570;ODC;ODC1 OTTHUMP00000178876;OTTHUMP00000244282;mitochondrial 2-oxodicarboxylate carrier;oxodicarboxylate carrier;solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21;solute carrier family 25 member 21 APPROVED protein-coding 14411 12124 607571 VALIDATED 1607032 SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 1 1 1 p13.3 106852157 106917679 - 108478968 108544497 - 108677344 108742980 - 6480464 15123600;15054102;12477932;11230166;20379614;18029348;20877624;22939629;11827452;22015608;21139048;21890473;23266187;22797925 29957 H3BMI3;J3KN42;Q6NUK1 ABBA01028419;ABBA01028420;AF123303;AJ619961;AJ619987;AK292567;AK304165;AK316304;AK316506;AL050209;AL359258;AL390036;AMYH01000888;AW069035;BC014519;BC029377;BC029905;BC068010;BC068561;BE243559;BQ685792;CH471156;DC309482;DC340944;DC416591;NG_032752;NM_013386;NM_213651 AAF28888;AAH14519;AAH68561;ACE87008;ACE87696;BAF85256;BAG65052;BAH14675;BAH14877;CAF04058;CAF04493;EAW51254;EAW51255;NP_037518;NP_998816;Q6NUK1 Hs.656870 1652605;1654328;1675419;1695116;1699730;1772595;2109849 AL009685;D1S3169;G48197;RH103471;RH26333;SHGC-75246;SLC25A24_9617 APC1;DKFZp586G0123;SCAMC-1 OTTHUMP00000012674;OTTHUMP00000012675;calcium-binding mitochondrial carrier protein SCaMC-1;calcium-binding transporter;mitochondrial ATP-Mg/Pi carrier protein 1;mitochondrial ATP-Mg/Pi transporter;mitochondrial Ca(2+)-dependent solute carrier protein 1;short calcium-binding mitochondrial carrier 1;small calcium-binding mitochondrial carrier protein 1;solute carrier family 25 member 24 APPROVED protein-coding ENSG00000085491 20662 12290 608744 REVIEWED 1317247 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010] 11 11 11 p15.5 857022 864848 - 780475 786221 - 790475 798269 - 1580863;6480464;7240710 11897791;17353931;15592994;15489334;14702039;14598172;12477932;11566871;21145461;19780765;18029348;20562859;22939629;22990118;19167051;21139048;21890473;23266187;23464991 79751 E9PI74;E9PJH7;E9PJY0;E9PP01;E9PQ36;E9PS95;K4DIA2;K4DIA8;K4DIB0;K4DIB2;K4DIB3;K4DIB4;K4DIB6;K4DIB8 AA723654;ABBA01015210;AJ428202;AK023106;AK290481;AK311038;AL832423;AMYH01003295;AP006621;BC019033;BC023545;BC024212;CH471158;NG_023407;NM_001191060;NM_001191061;NM_024698 AAH19033;AAH23545;AAH24212;ABM83846;ABM86865;BAB14407;BAF83170;CAD21007;EAX02385;EAX02386;EAX02387;EAX02388;EAX02389;NP_001177989;NP_001177990;NP_078974;Q9H936 Hs.99486 1673941;1697074 RH102018;SGC30389 EIEE3;FLJ13044;GC1;NET44 GC-1;OTTHUMP00000164433;OTTHUMP00000229783;OTTHUMP00000229784;OTTHUMP00000229958;glutamate/H(+) symporter 1;mitochondrial glutamate carrier 1;solute carrier family 25 member 22 APPROVED protein-coding ENSG00000177542 19954 15356 609302;609304 REVIEWED 1351086 SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012] 9 9 9 q34.11 101482501 101523452 + 129870300 129911345 + 130830479 130871537 + 6480464 12107411;16344560;8889548;15123600;15054102;12975309;12645546;12477932;11572484;20583170;20877624;23266187;21906983 114789 F8WEY9;H7C4Z4;Q6KCM6 AB067483;ABBA01043864;ABBA01043865;ABBA01043866;ABBA01043867;AJ619963;AJ619989;AJ619990;AJ619991;AJ619992;AK290705;AK290991;AL360268;AL559911;AL590708;AMYH01021739;AMYH01021740;AY358515;BC005163;BC036889;BC044631;BC061925;BC089448;BC103930;BC103931;BC103932;BC103933;BM689843;BQ637100;BX642627;CH471090;DA219774;NG_032871;NM_001006641;NM_001006642;NM_001265614;NM_052901;NR_049766 AAH05163;AAH89448;AAI03931;AAI03932;AAI03933;AAI03934;AAQ88879;BAB67789;BAF83394;BAF83680;CAF04060;CAF04495;CAF04496;CAF04497;CAF04498;EAW87738;EAW87739;NP_001006642;NP_001006643;NP_001252543;NP_443133;Q6KCM7 Hs.5476;Hs.729700 1739927;2126486;2143893;2155921;2168672;2191295 D9S1755;MARC_17155-17156:1021053900:3;RH68473;RH68655;SHGC-31024;SHGC-34993 KIAA1896;MCSC;MGC105138;MGC119514;MGC119515;MGC119516;MGC119517;PCSCL;RP11-395P17.4;SCAMC-2 OTTHUMP00000022249;OTTHUMP00000022250;OTTHUMP00000022251;OTTHUMP00000022252;OTTHUMP00000215166;calcium-binding mitochondrial carrier protein SCaMC-2;mitochondrial ATP-Mg/Pi carrier protein 3;mitochondrial Ca(2+)-dependent solute carrier protein 3;mitochondrial Ca2+-dependent solute carrier;short calcium-binding mitochondrial carrier 2;small calcium-binding mitochondrial carrier 2;small calcium-binding mitochondrial carrier protein 2;solute carrier family 25 member 25;solute carrier family 25, member 25, isoform a APPROVED protein-coding ENSG00000148339 20663 10573 608745 REVIEWED 6481091 SLC25A30-AS1 SLC25A30 antisense RNA 1 13 45991959 45994506 + 100874259 AL627107;AMYH01005089;AMYH01005090;XR_159009;XR_172004 Hs.658038 APPROVED miscrna 42795 MODEL 1318797 SLC25A26 solute carrier family 25 (S-adenosylmethionine carrier), member 26 Mitochondrial carriers, including SLC25A26, are a family of transport proteins found mostly in the inner membranes of mitochondria. They shuttle metabolites and cofactors through the mitochondrial membrane (Agrimi et al., 2004 [PubMed 14674884]).[supplied by OMIM, Mar 2008] 3 3 3 p14.1 66136355 66375193 + 66376317 66512041 + 66119285 66119661 + 1580863;6480464 14674884;16641997;16344560;14702039;12477932;18029348;20877624;21076409;23266187;21906983;22623531 115286 F8WAB8;H0YCZ5;H0YF50;H7C430;Q5HCH6;Q70HW3 ABBA01024293;ABBA01024295;ABBA01030863;ABBA01030864;ABBA01030865;AC092034;AC145425;AC170165;AC170801;AC235952;AJ580932;AK092495;AK096876;AK291873;AMYH01013254;AMYH01013255;AX747571;BC003399;BC012852;BI822084;BX358127;CH471055;CR749718;DA420010;DA845619;NM_001164796;NM_173471;NR_028475 AAH12852;ADZ15836;BAF84562;BAG52559;BAG53388;CAE45652;CAI46206;EAW65448;EAW65449;EAW65450;EAW65451;NP_001158268;NP_775742;Q70HW3 Hs.379386 1340267;1647319;1649736;1661591;1689097;1699370;1857226;2158948;2184897;5022200;5037552 D3S2380;D3S3697;D8S2279;G30980;L18426;RH103272;RH80372;SHGC-77066;SHGC-77070;STS-H08059;WI-22136 DKFZp434E079;FLJ77340;SAMC OTTHUMP00000195109;OTTHUMP00000195110;S-adenosylmethionine carrier protein;S-adenosylmethionine mitochondrial carrier protein;mitochondrial S-adenosylmethionine transporter;solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26;solute carrier family 25, member 26 APPROVED protein-coding ENSG00000144741 20661 15357 611037 VALIDATED 1344458 SLC25A27 solute carrier family 25, member 27 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011] 6 6 p12.3 46728638 46753886 + 46620652 46645927 + 1580863;6480464;6482843;6482844 18534681;17066476 10025957;18977241;18755175;17601350;17035241;16775390;16378686;14702039;12975309;12477932;11994670;10928996;10772343;10620491;8889548;20877624;19150400;19536655;20545631;15342556;16344560;20385226;21332312;22580300;21621926;22524567;22427795;23266187 9481 B4DHR4;B4DZG4;O95847;Q5VTS8 ABBA01050615;AF110532;AK090871;AK291427;AK295233;AK302906;AK315940;AL591242;AMYH01016328;AY358711;BC033091;BP310559;CB243903;CH471081;DA144842;DC314392;DR002070;NM_001204051;NM_001204052;NM_004277 AAD16995;AAH33091;AAQ89951;BAF84116;BAG58226;BAG64076;BAH14311;EAX04298;EAX04299;NP_001190980;NP_001190981;NP_004268;O95847 Hs.40510 1669671;1682794;1686410;1700184;2106619;2174012;5113531 RH103707;RH46727;RH98533;RH98902;SGC31026;SLC25A27__5432;WI-18030 FLJ33552;RP11-446F17.2;UCP4 OTTHUMP00000016548;UCP 4;mitochondrial uncoupling protein 4;uncoupling protein 4 APPROVED protein-coding ENSG00000153291 21065 15358 613725 REVIEWED 1317684 SLC25A29 solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 14 14 14 q32.2 80812080 80827487 - 99827206 99842613 - 100757453 100772860 - 1580863;6480464 14702039;12882971;12477932;19287344;20877624;23266187 123096 A3KMR5;G3V441;G3V477;G3V4H8;G3V5F4;Q8N8R3 ABBA01048531;AK095532;AK096294;AK123821;AK172788;AK289627;AK310069;AL157871;AL832299;AMYH01006010;BC132964;BC132966;BX247983;CH471061;NM_001039355 AAI32965;AAI32967;BAC04751;BAD18767;BAF82316;BAG53079;BAG53964;CAD62317;EAW81692;EAW81693;EAW81694;EAW81695;NP_001034444;Q8N8R3 Hs.578109 2107591;2130490;2138618 RH15727;RH78286;SLC25A29__6846 C14orf69;CACL;FLJ38975;ORNT3 CACT-like;OTTHUMP00000028080;OTTHUMP00000197038;OTTHUMP00000246489;carnitine-acylcarnitine translocase like;carnitine/acylcarnitine translocase-like;mitochondrial carnitine/acylcarnitine carrier protein CACL;mitochondrial ornithine transporter 3;solute carrier family 25, member 29 APPROVED protein-coding ENSG00000197119 20116 15360 615064 VALIDATED 1312988 SLC25A28 solute carrier family 25 (mitochondrial iron transporter), member 28 10 10 10 q24.2 95107676 95117622 - 101360265 101370211 - 101370275 101380221 - 1580863;6480464 15489334;15164054;14702039;12477932;12107412;11297739;16751776;16385451;20877624;23135267;23266187;22412388;22318606;23279374 81894 Q96A46 ABBA01063245;AF267854;AF327402;AF327403;AJ303077;AJ303078;AK056782;AL353719;AL831943;AMYH01002990;BC015951;BC047312;BC058937;BC064541;BC076399;BC094821;CD672723;CH471066;NM_031212 AAG44723;AAH47312;AAH58937;AAH76399;AAH94821;AAK49519;AAK49520;CAC27996;CAC27997;CAH10774;EAW49863;EAW49864;EAW49865;EAW49866;NP_112489;Q96A46 Hs.403790 2107589;2145938;2191645 D10S2168;MARC_3591-3592:966880954:1;SLC25A28__6845 DKFZp547C109;MFRN2;MRS3/4;MRS4L;NPD016 OTTHUMP00000020256;OTTHUMP00000020257;hMRS3/4;mitochondrial RNA splicing protein 3/4;mitochondrial RNA-splicing protein 3/4 homolog;mitochondrial iron transporter 2;mitoferrin 2;mitoferrin-2;putative mitochondrial solute carrier;solute carrier family 25, member 28 APPROVED protein-coding ENSG00000155287 23472 609767 VALIDATED 1606937 SLC25A30 solute carrier family 25, member 30 Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008] 13 13 13 q14.13 27022161 27047226 - 44868044 44890515 - 45967451 45992516 - 6480464 15809292;14702039;12477932;20877624;21906983;23266187 253512 D6RJI0;E5RIS9;E5RIW6;F5H8H8;Q5SVS4 ABBA01021205;ABBA01021206;ABBA01021207;AK074457;AK094133;AK095465;AK302967;AL627107;AL832206;AMYH01005088;AMYH01005089;BC129808;BC132739;BC136760;BC144401;CH471075;NM_001010875 AAI32740;AAI36761;ADR82925;BAG52822;BAG53060;BAG64115;EAX08739;NP_001010875;Q5SVS4 Hs.591230 1653223;1769651;1788190;1849842;1849844;2107595;5015281;5022200;5022651;5037552 A005O48;D11S2921;D8S2279;G20387;G67440;G67447;L18426;RH79191;SLC25A30__6847;WI-16852 KMCP1 OTTHUMP00000018351;kidney mitochondrial carrier protein 1;kidney mitochondrial carrier protein-1 APPROVED protein-coding ENSG00000174032 27371 18056 610793 VALIDATED 1604265 SLC25A33 solute carrier family 25 (pyrimidine nucleotide carrier), member 33 SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 1 1 1 p36.22 8705513 8748776 + 9522115 9565418 + 9599528 9642831 + 6480464 16949250;14715278;12887330;12477932;20453889;20877624;21900206;23266187 84275 Q9BSK2 ABBA01035555;ABBA01035556;ABBA01035557;ABBA01035558;AF495714;AJ880283;AL928921;AL954705;AMYH01000241;BC004991;BC073135;CH471130;NM_032315 AAH04991;AAH73135;AAM18051;CAI54244;EAW71620;NP_115691;Q9BSK2 Hs.568613 1659443;2173656 SGC32104;SHGC-74187 BMSC-MCP;MGC4399;PNC1 OTTHUMP00000001435;PNC1 protein;bone marrow stromal cell mitochondrial carrier protein;huBMSC-MCP;mitochondrial carrier protein;novel mitochondrial carrier protein;solute carrier family 25 member 33;solute carrier family 25, member 33 APPROVED protein-coding ENSG00000171612 29681 14631 610816 VALIDATED 1606496 SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM, Mar 2008] 4 4 4 q28.1 126030533 126074415 + 128871024 128914897 + 128651555 128695447 + 6480464;6907045 17137571;16381901;15670820;15489336;12477932;11256614;11230166;11076863;18029348;20060930;20877624;21532989;21827840;19156129;21139048;21906983;22178446;21890473;23266187 83447 Q9H0C2 ABBA01044794;AC093591;AJ863129;AL136857;AMYH01014509;AY550240;BC022032;BG773445;CH471056;NM_031291 AAH22032;AAT42263;AAY40974;CAB66791;CAI05952;CAL38140;EAX05199;EAX05200;NP_112581;Q9H0C2 Hs.149030 1720471;2142571 D4S1027;G59189 AAC4;ANT4;DKFZp434N1235;SFEC35kDa ADP,ATP carrier protein 4;ADP/ATP translocase 4;ANT 4;OTTHUMP00000164422;adenine nucleotide translocase 4;adenine nucleotide translocator 4;solute carrier family 25 member 31;sperm flagellar energy carrier protein APPROVED protein-coding ENSG00000151475 25319 13160 610796 VALIDATED 1606920 SLC25A34 solute carrier family 25, member 34 SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 1 1 1 p36.21 14545826 14550901 + 15935396 15940471 + 16062809 16067884 + 6480464 16949250;14702039;12477932;20877624;23266187 284723 Q6PIV7 ABBA01004700;AK024244;AL450998;AL832282;AMYH01000274;BC027998;CH471167;CR749264;NM_207348 AAH27998;CAH18120;EAW51747;NP_997231;Q6PIV7 Hs.631867 1670072;1775170;5015861;5016478;5024756;5024761;5037552;5118877;7185938 D10S16;D11S3745;D8S2279;GDB:434012;RH36905;RH80030;SHGC-74256;SHGC-74261 DKFZp781A10161;RP11-169K16.2 OTTHUMP00000003096;solute carrier family 25 member 34 APPROVED protein-coding ENSG00000162461 27653 17340 610817 PROVISIONAL 6480832 SLC25A38P1 solute carrier family 25, member 38 pseudogene 1 1 q24.3 172717392 172719311 + 20190752 441915 ABBA01027917;AMYH01001500;NG_006910;Z98043 1690514;1735228;2186001 A002A40;D3S2894E;RH16141 pseudo 43858 INFERRED 732727 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008] 12 12 q23 97511534 97519909 + 98987403 98995778 + 6480464;7240710 8144629;8168843;1777677;19405953;17273968;16303743;15984930;15489334;15324660;14702039;12477932;9733094;8575787;8125298;21145461;21319273;20877624;21252943;23266187;23402259;23455922;23464991;16196087;22939629;18029348;19156129;19167051;20186120;22810585;23000965;23184937;23246001;23438482;21565611;21963094;18781797;19287380;20848231;21081666;21139048;21890473;21906983;21987572;22178446;21907836;21113133;18729074;22797925 5250 F8VVM2;F8VWQ0;F8VWR4;F8VY00;F8VYH5;F8VZL5;Q00325;Q6MZF9 AB064666;ABBA01053283;AC013283;AK057575;AK074759;AK092689;AK222658;AK316598;AMYH01004691;BC000998;BC001328;BC003504;BC004345;BC006455;BC011574;BC011641;BC014019;BC015379;BC051367;BC068067;BI458030;BX647062;CH471054;CS185525;NG_011702;NM_002635;NM_005888;NM_213611;X60036;X77337 AAH00998;AAH01328;AAH03504;AAH04345;AAH06455;AAH11574;AAH11641;AAH14019;AAH15379;AAH51367;ABM81884;ABW03346;BAB93517;BAC11187;BAD96378;BAG38185;BAG52596;CAA42641;CAB56611;CAB56612;CAE46080;CAJ42706;EAW97595;EAW97596;EAW97597;EAW97598;EAW97599;EAW97600;NP_002626;NP_005879;NP_998776;Q00325 Hs.290404 2132936;2173511 G28613;RK1219_1220 OK/SW-cl.48;PHC;PTP OTTHUMP00000243241;OTTHUMP00000243242;OTTHUMP00000243243;OTTHUMP00000243245;OTTHUMP00000243249;OTTHUMP00000243251;PTP;mitochondrial phosphate carrier protein;phosphate carrier protein, mitochondrial;phosphate transport protein;solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 3;solute carrier family 25 member 3 APPROVED protein-coding ENSG00000075415 10989 02654 600370;610773 REVIEWED 6480847 SLC25A39P1 solute carrier family 25, member 39 pseudogene 1 1 202765166 202766222 + 100420877 ABBA01027495;AC098934;AMYH01001652;NG_027188 pseudo 43859 INFERRED 1605787 SLC25A35 solute carrier family 25, member 35 SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 8219936 8227022 - 8131807 8138895 - 8191082 8198170 - 6480464 16949250;14702039;12477932;20877624;23266187 399512 Q3KQZ1 ABBA01054908;AC135178;AK097536;AMYH01008090;AY498866;BC041597;BC052233;BC101329;BC101330;BC105995;CH471108;NM_201520 AAI01330;AAI01331;AAI05996;AAR92153;BAC05091;EAW90062;EAW90063;NP_958928;Q3KQZ1 Hs.118918 1652138;1652140;1771304;1855233;5022425 A006E21;D22S296;G20744;RH46164;RH69850 FLJ40217;MGC120446;MGC120448 solute carrier family 25 member 35 APPROVED protein-coding ENSG00000125434 31921 13444 610818 PROVISIONAL 6480418 SLC25A3P2 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2 12 q24.13 112430798 112431862 + 100128618 ABBA01019917;AC004024;AMYH01004754;NG_021734 pseudo 43784 INFERRED 6480402 SLC25A3P3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 18 1159190 1159773 - 100422606 ABBA01049825;AMYH01008775;AP005265;NG_026266 pseudo 43785 INFERRED 1605933 SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32 This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013] 8 8 8 q22.3 100597407 100614007 - 104480042 104496447 - 104410866 104427468 - 6480464;7242561 22332074 10978331;19362304;15489334;15342556;14702039;12477932;20877624;22939629;21768094;23266187;19322201;21906983;16344560 81034 B4DUQ5;E5RFL3;E5RGK5;E5RGT9;Q9H2D1 ABBA01037636;AC012213;AF283645;AK027531;AK027787;AK074452;AK125492;AK300748;AL046268;AMYH01018944;BC021893;BP274577;CH471060;DB087013;DC331449;NM_030780;NR_102337;NR_102338 AAG37834;AAH21893;BAB55180;BAB55368;BAG54205;BAG62417;EAW91877;EAW91878;NP_110407;Q9H2D1 Hs.532265;Hs.607819 1774599;5022639;5022651 D11S2808;D11S2921;STS-F13653 FLJ23872;MFT;MFTC OTTHUMP00000227518;mitochondrial folate transporter/carrier;solute carrier family 25 (mitochondrial folate carrier) , member 32;solute carrier family 25, member 32 APPROVED protein-coding ENSG00000164933 29683 11301 610815 REVIEWED 1605658 SLC25A36 solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 3 3 3 q23 139084063 139122168 + 142143352 142181475 + 140660662 140698785 + 6480464 15831516;19010793;16344560;16169070;14702039;12887330;12477932;22704111;20877624;20944657;21906983;23266187 55186 D6R8Y3;D6RB26;D6RCF5;F6SDC8;J3KQA4;Q96CQ1 ABBA01059053;ABBA01059054;AC108727;AC132032;AK001480;AK296785;AL049246;AL136803;AMYH01013540;AMYH01013541;BC014064;BC019859;BC036272;BM552452;BQ718950;BQ771812;CH471052;DA593079;NM_001104647;NM_018155 AAH14064;ACE86423;ACE87098;BAA91715;BAG59363;CAB66737;EAW79011;EAW79012;EAW79013;NP_001098117;NP_060625;Q96CQ1 Hs.144130 1646389;1653450;1664507;1689981;1695322;2136666 D3S2376;RH67882;RH92630;SHGC-64739;STS-H98013;WI-22240 DKFZp564C053;FLJ10618;PNC2 OTTHUMP00000217882;OTTHUMP00000217884;OTTHUMP00000217886;solute carrier family 25 member 36;solute carrier family 25, member 36 APPROVED protein-coding ENSG00000114120 25554 07688 VALIDATED 1606272 SLC25A38 solute carrier family 25, member 38 This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010] 3 3 3 p22.1 39366402 39380406 + 39399819 39413823 + 39424815 39438819 + 6480464;7240710 19412178;16949250;16344560;12477932;8125298;16169070;19731322;17207965;21393332;23266187 54977 C9JT44;Q96DW6 ABBA01024804;AC099332;AC104850;AK000558;AK026356;AK225388;AMYH01013099;BC013194;BQ574159;CH471055;CR457242;DB113609;NG_016931;NM_017875 AAH13194;ADQ31832;BAA91253;CAG33523;EAW64579;EAW64580;EAW64581;NP_060345;Q96DW6 Hs.369615 1650234;1690514;1735228;2186001 A002A40;D3S2894E;RH16141;RH41949 FLJ20551;FLJ22703 OTTHUMP00000161963;solute carrier family 25 member 38 APPROVED protein-coding ENSG00000144659 26054 07925 205950;610819 REVIEWED 1605395 SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011] 8 8 8 p21.2 22349849 22393485 + 23442308 23486008 + 23386363 23430063 + 6480464 19187226;16949250;16511496;16303743;15489334;14702039;12477932;11845285;10931946;8125298;19322201;20877624;19805291;21627978;23266187 51312 F8W9Q7;H0YAT5;Q9NYZ2 ABBA01005544;ABBA01005545;AC051642;AF113696;AF116630;AF116640;AF155660;AF223466;AF495725;AK074708;AK075313;AK093931;AK127666;AK223194;AL833186;AMYH01018574;AY032628;BC015013;BC033834;BC132799;BC132801;BI460337;BM926580;CH471080;CQ783918;NM_016612 AAF64141;AAF67479;AAF71053;AAF71063;AAH15013;AAI32800;AAI32802;AAK38154;AAQ06679;ADR83141;BAD96914;CAF86924;CAH10415;EAW63617;NP_057696;Q9NYZ2 Hs.596025;Hs.658208;Hs.726050 1646059;1670668;1677820;1686196;1701218;1733990;1768430;1768432;1775282;2125635;2134784;2135604;2142914;2146144;2171978;2176280;2180357;2180385;2181350;5014019;5015961;5024761;5037552 A003P18;A006H19;D15S1477;D5S2354;D8S1181;D8S1939;D8S2028;D8S2279;G20807;RH104237;RH12880;RH16282;RH16405;RH16493;RH16505;RH36905;RH80368;RH80596;SHGC-33931;SHGC-34133;STS-H40450;STS-R98014;WI-14743 HT015;MFRN;MFRN1;MSC;MSCP;PRO1278;PRO1584;PRO2217 OTTHUMP00000225191;OTTHUMP00000225195;mitochondrial iron transporter 1;mitochondrial solute carrier protein;mitoferrin;mitoferrin-1;predicted protein of HQ2217;solute carrier family 25, member 37 APPROVED protein-coding 29786 17605 610387 PROVISIONAL 5688823 SLC25A3P1 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1 1 p32.3 53904043 53905693 - 12477932;14702039 163742 Q8N7R6 ABBA01074740;AK097753;AL365445;AMYH01000628;BC128116;BC128117;NR_002314 BAC05161 Hs.99394 FLJ40434;MGC149198;MGC149199 APPROVED pseudo ENSG00000236253 26869 PROVISIONAL 1607018 SLC25A40 solute carrier family 25, member 40 SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 7 7 7 q21.12 82168374 82210252 - 87303353 87343604 - 87463814 87505692 - 6480464 16949250;12690205;12477932;8125298;17207965;20877624;23266187 55972 F2Z3Q4;F8WEL8;Q8TBP6 AACC02000015;ABBA01045863;ABBA01045864;AC003083;AF125531;AI037919;AK223020;AK290848;AMYH01017670;BC027322;BU933121;BX362003;CH236949;CH471091;NM_018843 AAF17225;AAH27322;AAS07443;ADQ31676;BAD96740;BAF83537;EAL24171;EAW76933;EAW76934;EAW76935;NP_061331;Q8TBP6 Hs.208414 2136144;2171105;2173922 D7S2012;D7S2786;D7S2883 MCFP OTTHUMP00000161660;mitochondrial carrier family protein;solute carrier family 25 member 40 APPROVED protein-coding 29680 14372 610821 VALIDATED 1604180 SLC25A41 solute carrier family 25, member 41 SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 19 19 19 p13.3 6364835 6373632 - 6377048 6384790 - 6426048 6433790 - 6480464 16949250;14702039;12477932;23266187 284427 Q8N5S1 ABBA01055958;AC011539;AK097761;AMYH01009372;BC031671;CH471139;NM_173637 AAH31671;BAC05163;EAW69092;EAW69093;EAW69094;NP_775908;Q8N5S1 Hs.375135 APC4;FLJ40442;MGC34725 solute carrier family 25 member 41 APPROVED protein-coding ENSG00000181240 28533 14584 610822 VALIDATED 1604178 SLC25A42 solute carrier family 25, member 42 This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012] 19 19 19 p13.11 19079646 19128541 + 19035808 19084694 + 19174803 19223839 + 6480464 16949250;12477932;19429682;20379614;20877624;23266187;23752268 284439 Q86VD7;Q8NHH2 ABBA01051308;AC002126;AC003038;AC004143;AF521885;AI057363;AK303785;AMYH01009605;AMYH01009606;BC041973;BC045598;CH471106;FN356975;NM_178526 AAB86983;AAC02758;AAH45598;AAM81327;BAH14051;CAX94853;EAW84777;EAW84778;EAW84779;NP_848621;Q86VD7 Hs.303669 1646655;2182872 SHGC-36640;STS-AA005350 FLJ54826;MGC26694 mitochondrial coenzyme A transporter SLC25A42;solute carrier family 25 member 42 APPROVED protein-coding ENSG00000181035 28380 17523 610823 REVIEWED 1604622 SLC25A39 solute carrier family 25, member 39 SLC25A39 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 17 17 17 q12 39105698 39110922 - 39752522 39757710 - 42396993 42402217 - 6480464 16949250;15489334;14702039;12477932;11256614;11230166;11139402;10810093;8889548;19656490;20877624;21906983;23266187 51629 B4DFG5;K7EJI2;K7EKC2;K7EKF4;K7ELM7;K7EMR4;K7EMW3;K7EQS4;K7EQS8;Q9BZJ4 AB209576;ABBA01028378;AC003043;AF119864;AF151827;AF317711;AK026060;AK289357;AK294085;AK295478;AK301139;AL133584;AMYH01008416;BC001398;BC009330;BC011178;BC096819;BU678976;CH471178;CV573041;NM_001143780;NM_016016 AAD34064;AAF69618;AAG60687;AAH01398;AAH09330;AAH96819;BAB15341;BAD92813;BAF82046;BAG57426;BAG58405;BAG62731;CAB63728;EAW51602;EAW51603;EAW51604;EAW51605;EAW51606;EAW51607;NP_001137252;NP_057100;Q9BZJ4 Hs.744880 2152816;2161721;5021872 RH12048;RH70380;sY3084 CGI-69;CGI69;FLJ22407 OTTHUMP00000163468;solute carrier family 25 member 39 APPROVED protein-coding ENSG00000013306 24279 13040 610820 VALIDATED 732748 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013] 4 4 q35 186301392 186305419 + 186064417 186071538 + 1581261;1580618;1580619;1580620;1580621;1580622;1580863;6480464;6907045;7240710 10220377;16501242;16155110;15792871;15551024;12565915 2823266;16507998;10926541;10620603;19425506;19232058;18852887;18575922;18504126;17420318;16887100;16556444;16120388;16107323;16020522;15489334;15231833;14729611;12750404;12750393;12707443;12477932;12450408;12140186;12112115;12039962;11809823;11756613;11756592;11193032;11181702;11175251;10364542;9748162;8644740;8479824;8103757;2829183;2547778;2541251;1582253;16511342;16492162;16354571;16429131;15832179;15817944;15725353;15638722;15142377;12149099;22354994;12663490;15033717;21145461;21319273;20843780;20698827;11287411;19965780;20007455;20181062;8619474;9110174;9874241;20160640;20528917;20504995;20877624;16226712;21196320;19840444;20186120;22939629;22187496;17328670;17331040;17586316;17586317;18094160;19149577;19275580;19275583;19275588;20012529;21318276;21918813;22797925;23401503;18781797;20972266;21139048;21586654;21890473;21906983;22178446;16236267;20301559;20301725;17203973;21963094;23000965;23106098;23246001;22350218;23266187;23464991 291 P12235;Q59EP7 AB209764;ABBA01070527;ABBA01070528;AC093592;AC093824;AC112237;AF052119;AK291902;AMYH01014772;BC008664;BC061589;BC063643;BG707401;BI544547;CH471056;HQ206346;HQ206347;HQ206348;HQ206349;HQ206350;HQ206351;HQ206352;HQ206353;HQ206354;HQ206355;HQ206356;HQ206357;HQ206358;HQ206359;HQ206360;HQ206361;HQ206362;HQ206363;HQ206364;HQ206365;HQ206366;HQ206367;HQ206368;HQ206369;HQ206370;HQ206371;HQ206372;HQ206373;HQ206374;HQ206375;HQ206376;HQ206377;HQ206378;HQ206379;HQ206380;HQ206381;HQ206382;HQ206383;HQ206384;HQ206385;J02966;J03593;J04982;NG_013001;NM_001151 AAA36751;AAA51736;AAA61223;AAH08664;AAH61589;AAH63643;ABM82473;ABM85661;ADP92294;ADP92295;ADP92296;ADP92297;ADP92298;ADP92299;ADP92300;ADP92301;ADP92302;ADP92303;ADP92304;ADP92305;ADP92306;ADP92307;ADP92308;ADP92309;ADP92310;ADP92311;ADP92312;ADP92313;ADP92314;ADP92315;ADP92316;ADP92317;ADP92318;ADP92319;ADP92320;ADP92321;ADP92322;ADP92323;ADP92324;ADP92325;ADP92326;ADP92327;ADP92328;ADP92329;ADP92330;ADP92331;ADP92332;ADP92333;BAD93001;BAF84591;EAX04655;EAX04656;NP_001142;P12235 Hs.246506 1735374;1742687;1848249;1854504;2132075;2152255;2167014;2176423;2177369;5017859;5120181;5491651 A006N06;D4S2504E;D4S3175;G33947;GDB:201790;GDB:201792;MARC_5085-5086:996690129:1;SHGC-59516;SHGC-59518;SHGC-59680;SLC25A4;STS-F10917 1;AAC1;ANT;ANT 1;ANT1;PEO2;PEO3;T1 ADP,ATP carrier protein 1;ADP,ATP carrier protein, heart/skeletal muscle;ADP/ATP translocase 1;ANT 1;OTTHUMP00000165924;adenine nucleotide translocator 1 (skeletal muscle);heart/skeletal muscle ATP/ADP translocator;solute carrier family 25 (mitochondrial adenine nucleotide translocator) member 4;solute carrier family 25 member 4 APPROVED protein-coding 10990 00058 103220;192600;609283 REVIEWED 1605262 SLC25A43 solute carrier family 25, member 43 This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009] X X X q24 118987995 119043163 + 118417051 118472462 + 118533258 118588441 + 6480464 22883974;16949250;14702039;12477932;21145461;21623375;17207965;22430806;19322201;23266187 203427 B4E1P8;Q8WUT9 ABBA01036677;ABBA01036678;ABBA01036679;ABBA01036680;ABBA01036681;ABBA01036682;ABBA01036683;ABBA01036684;ABBA01036685;AC004000;AC004973;AK091304;AK094254;AK292035;AK303932;AL590525;AMYH01022880;AMYH01022881;AMYH01022882;AMYH01022883;AMYH01022884;BC019584;BC071871;BM907537;CH471161;NG_016298;NM_145305 AAC62432;AAH19584;AAH71871;ADQ32319;BAC04318;BAF84724;BAG52331;BAG64860;CAC36518;EAW89873;EAW89874;EAW89875;NP_660348;Q8WUT9 Hs.496658 1666767;1694322;5019611;5094112;5094114;5094120 AL023949;G42856;G54520;G54552;G54553;G54557 OTTHUMP00000023899;solute carrier family 25 member 43 APPROVED protein-coding ENSG00000077713 30557 06617 300641 REVIEWED 1605709 SLC25A44 solute carrier family 25, member 44 SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 1 1 1 q22 129236709 129255567 + 154430523 154449211 + 156163730 156182587 + 6480464 16949250;16710414;16303743;15489334;12477932;9455484;20877624;22939629;19322201;23266187 9673 E9PGQ0;Q96H78 AB007915;ABBA01016669;AK074912;AK075002;AK294524;AK299747;AK307968;AK309678;AK309690;AL135927;AMYH01001436;BC008843;BC039854;BC062796;CH471121;CQ782989;CQ783742;DC370927;NM_014655 AAH08843;AAH39854;BAA32291;BAC11287;BAC11347;BAG57735;BAG61638;CAF86209;CAF86839;EAW52991;NP_055470;Q96H78 Hs.532375 1680962;1707492;2127961;2137417;2185985;5015961 A002Y27;D15S1477;RH45544;RH79563;SHGC-64332;SHGC-84544 FLJ90431;KIAA0446;RP11-54H19.3 OTTHUMP00000016580;solute carrier family 25 member 44 APPROVED protein-coding ENSG00000160785 29036 17190 610824 VALIDATED 1345966 SLC25A47 solute carrier family 25, member 47 14 14 14 q32.2 80844304 80851341 + 99859432 99866468 + 100789679 100796715 + 6480464 19303656;15322095;15221005;14702039;12477932;20877624;21988832;23266187 283600 G3V374;Q6Q0C1 AB073385;ABBA01048531;AK092001;AL157871;AMYH01006010;AY569438;AY570298;BC137253;BC137254;BC144549;BX248260;CH471061;NM_207117 AAI37254;AAI37255;AAS77211;AAS80155;BAD38636;BAG52460;CAD62588;EAW81696;EAW81697;EAW81698;EAW81699;NP_997000;Q6Q0C1 Hs.108268 C14orf68;HDMCP;HMFN1655 HCC-down-regulated mitochondrial carrier protein;OTTHUMP00000246491;hepatocellular carcinoma down-regulated mitochondrial carrier protein;hepatocellular carcinoma-downregulated mitochondrial carrier protein;solute carrier family 25 member 47 APPROVED protein-coding ENSG00000140107 20115 16620 609911 VALIDATED 1601716 SLC25A48 solute carrier family 25, member 48 5 5 5 q31.1 131295101 131349055 + 135198264 135236335 + 135170365 135224326 + 6480464 16344560;12477932;19773279;20877624;23251661;23266187 153328 C9JM56;D6RFW8;J3KQI1;Q6ZT89 ABBA01068720;ABBA01068721;ABBA01068722;AC011427;AI733049;AK126812;AMYH01015630;BC025747;BG700532;CH471062;DA137264;NM_145282 AAH25747;BAC86705;EAW62205;EAW62206;EAW62207;NP_660325;Q6ZT89 Hs.412418;Hs.720329 1645549 WI-13437 HDMCP HCC-down-regulated mitochondrial carrier protein;OTTHUMP00000211282;OTTHUMP00000211284;mitochondrial carrier protein-like;solute carrier family 25 member 48 APPROVED protein-coding ENSG00000145832 30451 14098 VALIDATED 1604185 SLC25A45 solute carrier family 25, member 45 SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 11 11 11 q13.1 62469015 62476495 - 64899239 64906718 - 65142663 65150142 - 6480464 16949250;16344560;14702039;12477932;17207965;23266187;8889548 283130 E9PJ15;E9PJQ3;E9PJW2;E9PK53;E9PMF0;Q8N413 ABBA01024126;AK090434;AK091190;AK124022;AMYH01003719;AP000944;AY597807;BC036869;BC041100;BM695511;BX648573;CH471076;DA453096;DA872876;NM_001077241;NM_001278250;NM_001278251;NM_182556 AAH36869;AAT09000;ADQ33016;BAC03415;BAG52302;EAW74380;EAW74381;EAW74382;EAW74383;NP_001070709;NP_001265179;NP_001265180;NP_872362;Q8N413 Hs.661604 5015881;5015961;5020740;5022651;5037552;5108775 D11S2921;D15S1477;D3S1674;D8S2279;GDB:335751;L17809 OTTHUMP00000232356;OTTHUMP00000232357;OTTHUMP00000232359;OTTHUMP00000232377;OTTHUMP00000232380;solute carrier family 25 member 45 APPROVED protein-coding ENSG00000162241 27442 14142 610825 VALIDATED 1343151 SLC25A51P2 solute carrier family 25, member 51 pseudogene 2 18 18 18 p11.23 7019350 7021110 + 7124929 7125851 + 7134119 7135880 + 645423 ABBA01049906;AMYH01008791;AP005062;NG_009212 MCART4P APPROVED pseudo 23327 INFERRED 1352025 SLC25A51P3 solute carrier family 25, member 51 pseudogene 3 8 8 8 q21.13 77511956 77513074 - 81669523 81670491 - 81506985 81508103 - 100128119 ABBA01004061;AC009871;AMYH01018828;NG_009213 MCART5P APPROVED pseudo 31051 INFERRED 1606754 SLC25A46 solute carrier family 25, member 46 SLC25A46 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] 5 5 5 q22.1 106020634 106044366 + 110102653 110126383 + 110074754 110098484 + 6480464 16949250;14702039;12477932;1651563;1651562;20877624;17207965;19584346;22939629;21906983;21890473;21963094;23266187 91137 B3KRE6;B4DTA3;B4DY98;B7Z6C8;E7EVY2;Q96AG3 ABBA01069075;AC008650;AK091427;AK290217;AK300116;AK300123;AK302326;AMYH01015545;BC017169;CH471086;CQ834278;M74089;NM_138773 AAA03587;AAH17169;ADQ32748;BAF82906;BAG52358;BAG61915;BAG63660;BAH13214;CAH05354;EAW49040;EAW49041;NP_620128;Q96AG3 Hs.75639 1659110;1669567;2130991;5094959 D5S2477;D5S2563;RH17735;SLC25A46 OTTHUMP00000159002;OTTHUMP00000223494;solute carrier family 25 member 46 APPROVED protein-coding ENSG00000164209 25198 14283 610826 PROVISIONAL 1345736 SLC25A5P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1 22 22 q13.2 26202661 26204262 - 42396437 42398037 - 2157297 266623 ABBA01055660;AMYH01012807;NG_009276;Z99716 ANTP3;bK250D10.4 pseudo 19250 INFERRED 2304153 SLC25A5P2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2 2 2 2 p22.3 33903224 33904444 - 33846136 33919249 - 34064589 34065809 - 19421330;2157297 344371 ABBA01074913;AC069303;AMYH01010243;NG_009264 1750855;1784076 SHGC-104635;SHGC-149584 pseudo 35470 INFERRED 1344632 SLC25A5P3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3 7 7 7 p11.2 54591774 54593003 + 54453055 54455515 + 54487064 54488293 + 19425506;9847074;2157297 222005 AACC02000089;ABBA01011841;AC073269;AMYH01017265;CH236957;NG_009279 2120602 GDB:1318338 ANTP1 pseudo 507 INFERRED 2304157 SLC25A5P4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4 13 13 13 q21.1 38843418 38845164 + 56645579 56788076 + 57888799 57890551 + 2157297 100131027 ABBA01037017;AL353652;AL353657;AL390965;AL590100;NG_009271 1704560;1715083;1727039;1770323 D13S1814;G62918;RH119493;SHGC-83086 pseudo 35471 INFERRED 1350253 SLC25A5P5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5 7 7 7 p14.3 32494954 32496525 + 32477650 32487266 + 32511041 32512613 + 2157297 442525 AACC02000087;ABBA01056836;AC018641;AMYH01017155;NG_009277 ANTP5;TCAG_29001 pseudo 511 INFERRED 1352141 SLC25A5P6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 6 4 4 4 q35.2 184575615 184576840 - 187486803 187487749 - 187249609 187250834 - 2157297 644042 ABBA01070558;AC109517;AMYH01014783;NG_007588 ANTP6 pseudo 512 INFERRED 1347659 SLC25A5P7 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7 6 6 6 q22.31 122719402 122720611 + 122016538 122017671 + 121974885 121976094 + 2157297 442255 ABBA01025990;AL603865;AMYH01016634;NG_009280 ANTP7 pseudo 513 INFERRED 2304152 SLC25A5P8 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 9 9 9 p21.1 32262665 32263902 - 32323180 32334863 - 32333193 32334430 - 2157297;16107323 392301 ABBA01065086;AL353573;AMYH01019319;NG_009270 pseudo 35469 INFERRED 2304160 SLC25A5P9 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9 5 5 5 q13.3 70941537 70942786 - 75084149 75138043 - 75048115 75049364 - 2157297 100133074 ABBA01061947;AC025170;AC108120;AMYH01015412;NG_009302 1729652 D5S349 pseudo 35468 INFERRED 1313070 SLC25A51 solute carrier family 25, member 51 9 9 9 p13.3-p12 37810747 37837522 - 37877601 37894350 - 37877572 37904350 - 737633;1580863;6480464 12477932 15489334;15342556;15164053;14702039;10737800;20877624;23266187;23275563 92014 Q9H1U9 ABBA01050385;AK091407;AK094592;AK098185;AL138752;AMYH01019361;BC008500;BC063563;BG953457;BP363489;CH471071;NM_033412;NR_024872;NR_024873 AAH08500;EAW58258;EAW58259;EAW58260;NP_219480;Q9H1U9 Hs.634120 1688440;1725705;2161104;2164896;5015404;5015861;5015881;5016596;5020274;5022322;5114032;5117897;5493553;7185938 D10S16;D11S2560;G30541;G62115;GDB:335751;GDB:631802;GDB:631813;L17705;L18441;RH18244;RH75285;RH78981;UniSTS:487200 CG7943;FLJ37273;MCART1;MGC14836 OTTHUMP00000195034;OTTHUMP00000195035;mitochondrial carrier triple repeat 1;mitochondrial carrier triple repeat protein 1;solute carrier family 25 member 51 APPROVED protein-coding ENSG00000122696 23323 14370 VALIDATED 1343024 SLC25A6P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 20 20 20 p11.22 21796897 21797621 - 21670891 21671815 - 21722990 21723714 - 128790 ABBA01054109;AL035562;AMYH01011772;NG_003107 SLC25A5L;dJ1065O2.2 pseudo 16554 INFERRED 6480829 SLC25A6P2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 2 9 p21.1 31253779 31254941 + 138412 ABBA01065095;AL354854;AMYH01019315;NG_005651 pseudo 43850 INFERRED 6480850 SLC25A6P3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 3 1 52174755 52175611 + 100422686 ABBA01074788;AL050343;AMYH01000617;NG_027091 1706922 SHGC-80950 pseudo 43852 INFERRED 6480849 SLC25A6P4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 4 18 77835609 77836151 + 100422690 ABBA01013902;AC090360;AMYH01009137;NG_026343 pseudo 43853 INFERRED 6480836 SLC25A6P5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 5 9 q31.2 108611991 108612874 + 100129319 ABBA01042811;AL592488;AMYH01021602;AMYH01021603;NG_021673 pseudo 43854 INFERRED 6480835 SLC25A6P6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 6 6 q13 71373205 71373982 - 100128312 ABBA01040270;AL354943;AMYH01016416;NG_022309 pseudo 43855 INFERRED 5552935 SLC25A5-AS1 SLC25A5 antisense RNA 1 X 118599996 118603083 - 12477932;14702039;8889548 100303728 Q8NAU4 ABBA01036674;AC004000;AI380428;AI471629;AK092094;AK094280;AMYH01022884;BC028211;BC050320;BM715000;NR_028443 BAC03803 Hs.714405;Hs.742239 1682129;1794164 PMC310799P1;RH44917 FLJ34775;FLJ36961 APPROVED miscrna ENSG00000224281 43438 VALIDATED 1352634 SLC25A51P1 solute carrier family 25, member 51 pseudogene 1 6 6 6 q12 64662826 64664430 + 66554493 66556099 + 66497772 66499376 + 12477932 442229 ABBA01023930;AL391500;AMYH01016397;AW665607;BC024198;NR_026540 Hs.390414 MCART3P;bA707M13.1 APPROVED pseudo 23325 VALIDATED 1603463 SLC25A53 solute carrier family 25, member 53 X X X q22.2 103818515 103876331 - 103230554 103288364 - 103343898 103401708 - 6480464 15772651;12477932;23266187 401612 Q5H9E4 ABBA01019070;ABBA01019071;ABBA01019072;ABBA01019073;ABBA01019074;ABBA01019075;ABBA01019076;AC234783;AL135959;AL833609;AMYH01022808;BC035919;BC140812;BC140814;CH471120;NM_001012755;Z82254 AAI40813;AAI40815;CAI41997;EAX02763;NP_001012773;Q5H9E4 Hs.660022 1671995;1672758;1688823;1701170;1754643;1854656;2121201;2150931;2163099;2167636;5037552 D8S2279;L77846;L77847;L77851;RH104213;RH69847;RH79967;SGC33118;SGC34091;SHGC-132991;SHGC-58402 DKFZp686O1267;MCART6 OTTHUMP00000023764;mitochondrial carrier triple repeat 6;mitochondrial carrier triple repeat protein 6;solute carrier family 25 member 53 APPROVED protein-coding ENSG00000176274 31894 18628 VALIDATED 732042 SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013] X X q24 118486433 118489320 + 118602363 118605359 + 1580863;6480464;6907045 2168878;10620603;18063578;18267033;18215124;16120388;15772651;15489334;15486956;14598172;12777383;12477932;12450408;11602586;11287411;9698557;9315697;8918809;7713517;3031073;2829183;2157297;17609381;21145461;17715127;17207965;20875141;19154410;22707389;22939629;21182205;20950584;23402259;23455922;23464991;23266187;19167051;20186120;16196087;18729074;19380743;21853274;22053931;22268729;22505724;22797925;12777385;18457437;18781797;20972266;21139048;21890473;21906983;21987572;22178446;21113133;21907836;21252943;17203973;23150669;19725029;19738201;19805454;21706016;21963094;22623428;22810585;23000965;23084401;23106098;23184937;23246001;23438482 292 P05141;Q6NVC0 ABBA01036674;AC004000;AK315292;AMYH01022884;BC056160;BC068199;BQ223988;CH471161;DB555059;DR759917;J02683;J03591;L78810;M57424;NG_013262;NM_001152 AAA35579;AAA36749;AAA51737;AAB39266;AAB96347;AAH56160;AAH68199;ADQ32589;BAG37698;EAW89868;EAW89869;EAW89870;NP_001143;P05141 Hs.632282 1682129;1744959;1794164;5106710 G22154;GDB:583346;PMC310799P1;RH44917 2F1;AAC2;ANT2;T2;T3 ADP,ATP carrier protein 2;ADP,ATP carrier protein, fibroblast isoform;ADP/ATP carrier protein;ADP/ATP translocase 2;ANT 2;OTTHUMP00000024324;adenine nucleotide translocator 2 (fibroblast);solute carrier family 25 member 5 APPROVED protein-coding ENSG00000005022 10991 02147 300150 REVIEWED 1319971 SLC25A52 solute carrier family 25, member 52 This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008] 18 18 18 q12.1 26146768 26147952 - 27593657 27594841 - 29339659 29340843 - 16344560;15489334;12477932;23266187 147407 I3L0B8;Q3SY17 ABBA01022507;AC022960;AK302337;AMYH01008925;BC103999;BC104000;BC104001;DB057843;NM_001034172 AAI04000;AAI04001;AAI04002;BAG63667;NP_001029344;Q3SY17 Hs.567708 5493553 UniSTS:487200 MCART2;MGC120230;MGC120231;MGC120232 mitochondrial carrier triple repeat 2;mitochondrial carrier triple repeat protein 2;solute carrier family 25 member 52 APPROVED protein-coding ENSG00000141437 23324 18732 VALIDATED 736905 SLC26A1 solute carrier family 26 (anion exchanger), member 1 This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008] 4 4 4 p16.3 909807 924170 - 962861 977224 - 972861 987224 - 1580863;6480464 11087667;17881426;17119850;12713736;12477932;11581495;21093948;19850743 10861 Q3SX88;Q9H2B4 ABBA01019349;AC019103;AF297659;AK292747;AMYH01013842;AY124771;BC015517;BF589989;CH471131;NG_033042;NM_022042;NM_134425;NM_213613 AAG22075;AAH15517;AAI56323;AAI57109;AAM94171;BAF85436;EAW82628;EAW82629;NP_071325;NP_602297;NP_998778;Q9H2B4 Hs.658244 1684124;1742307;1743897;1796816;5120824 GDB:196305;GDB:375216;GDB:375219;SHGC-67289;SLC26A1_1601 EDM4;SAT-1;SAT1 OTTHUMP00000217306;OTTHUMP00000217307;OTTHUMP00000217308;solute carrier family 26 member 1;sulfate anion tranporter AT1;sulfate anion transporter 1;sulfate transporter;sulfate/anion transporter SAT-1 protein APPROVED protein-coding ENSG00000145217 10993 15361 610130 REVIEWED 736428 SLC26A4 solute carrier family 26 (anion exchanger), member 4 Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008] 7 7 q31 107088316 107145490 + 107301080 107358254 + 1599215;1599216;1599217;1580863;6480464;7240710 16570074;12974744 22389666;19266817;19204907;19199245;19196800;19050049;19040761;19027966;19017801;18988928;18692402;18641518;18641360;18585793;18427006;18424749;18368581;18335745;18322141;18316665;18310264;18285825;18283249;18274916;18250610;18167283;18075246;18067822;17949297;17851929;10192399;9398842;16928804;19509082;19429184;19426954;19615760;21035230;17718863;17697873;17690912;17503324;17443271;17309986;16684826;16283880;16260629;16260428;15905611;15784681;15689455;15679828;15531480;15355436;15279074;15155570;14715652;14679580;14508505;12853948;12788906;12727986;12727855;12676893;12112665;11932316;11919333;11834742;11748854;11716048;11581495;11375792;11317356;11274445;11087667;10878664;10843192;10718825;10700480;10602116;10190331;9618167;9618166;9500541;9070918;8706311;17766716;8630498;8630497;8541853;22551242;22285650;22429511;22444735;22750442;20553101;20597900;20621367;20668687;20739942;21187047;20857898;18710471;18813951;19287372;19289392;19578036;19608655;19648736;19673989;19718752;19730683;19744334;19786220;19787632;19954013;19998422;20056178;20235449;20483489;20842945;20931531;21045265;20601923;21162657;21154317;19558834;20359100;17007371;20826203;21809555;21366435;21814192;17854396;21174747;21416585;21757707;21914796;21961810;22906308;22918213;22924538;22116356;22116359;22116360;20301607;20301640;22412181;22509691;23246836;23401162;23705809;23185506;22717225;23151031;23174149;22796198;22884721 5172 B7Z266;B7Z6M6;C9JQG1;F5H104;O43511 AACC02000004;ABBA01057905;ABBA01057906;AC002467;AC078937;AF030880;AK294388;AK298543;AK300604;AMYH01017830;CH236947;CH471070;NG_008489;NM_000441 AAB88773;AAC51873;AAI48376;AAI53003;AAS02011;BAH11752;BAH12811;BAH13312;EAW83414;NP_000432;O43511 Hs.571246 1341782;1796820;2163364;5014051;5015619;5021872;5037552;7183706 D11S3114;D7S2459;D8S2278;D8S2279;G36378;SLC26A4_832;sY3084 DFNB4;EVA;PDS;TDH2B OTTHUMP00000206717;pendrin;sodium-independent chloride/iodide transporter;solute carrier family 26, member 4 APPROVED protein-coding ENSG00000091137 8818 05735 274600;600791;605646 REVIEWED 1345527 SLC26A10 solute carrier family 26, member 10 12 12 12 q13 57669508 57675749 + 56299960 56306201 + 58013693 58019934 + 1580863;6480464 12477932;14702039 65012 E9PIH7;H0Y683;Q8NG04 ABBA01026695;AC025165;AF331523;AK122981;AK314085;AL050358;AMYH01004522;BC068027;NM_133489 AAM92901;BAC85515;NP_597996;Q8NG04 Hs.727726 2122078;2151807;5021876 D12S1969;RH1607;ha1547 FLJ32854 OTTHUMP00000158621;OTTHUMP00000205604;solute carrier family 26 member 10 protein-coding ENSG00000135502 14470 10234 VALIDATED 1314648 SLC26A11 solute carrier family 26 (anion exchanger), member 11 This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 q25.3 74838390 74854977 + 75808832 75841892 + 78194200 78227308 + 6480464 12626430;16303743;12477932;14702039;16344560;17071331;17693766;21890473;21906983;23000965 284129 I3L0N9;I3L124;I3L1H1;I3L250;I3L266;I3L2J9;I3L3K8;Q86WA9 ABBA01015407;AC123764;AF331524;AF345195;AI963799;AJ544073;AK027293;AK075248;AK315132;AL833468;AMYH01008694;BC015160;BC035900;BC047451;CH471099;CQ784015;CQ834674;DA290933;NM_001166347;NM_001166348;NM_001166349;NM_173626 AAH15160;AAH35900;AAH47451;AAM92902;AAO26673;BAC11496;BAG37584;CAD66450;CAF86970;CAH05552;EAW89592;NP_001159819;NP_001159820;NP_001159821;NP_775897;Q86WA9 Hs.4866 1699066;1765737;2164398;2164400;5014051;5015619;5037552 A001Z20;D11S3114;D8S2278;D8S2279;G19817;RH103108;SHGC-149168 MGC46523 OTTHUMP00000164618;sodium-independent sulfate anion transporter APPROVED protein-coding ENSG00000181045 14471 11569 610117 REVIEWED 1349745 SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013] X;Y X;Y p22.32 and Yp11.3 1465045 1470998 - 1455045 1461039 - 1580863;6480464;6907045 14726512;17220478;19111545;17855512;16930576;16556444;16201016;16189514;16169070;16120388;15489334;15063741;15033708;14746803;12477932;12450408;12112115;11872176;11756613;10926541;9110174;8619474;8490661;8486369;2829183;2823266;2541251;10620603;15163724;19669810;16226712;16712791;22939629;16196087;17715127;20000738;20186120;18729074;19380743;21853274;22797925;23266187;23455922;23464991;23798571;21252943;18457437;18781797;20972266;21081666;21139048;21890473;21906983;21987572;22178446;21145461;17979178;21706016;21963094;22810585;23000965;23246001 293 I7HJJ0;P12236;Q6I9V5 AB209822;ABBA01055727;AF076617;AF091236;AK312336;AL683870;AMYH01021994;AY007135;BC007295;BC007850;BC008737;BC008935;BC013256;BC014775;BC031912;BC035469;CB150341;CH471074;CR457400;J03592;NG_013263;NM_001636 AAA36750;AAC61590;AAG01998;AAH07295;AAH07850;AAH08737;AAH08935;AAH14775;AAH31912;ABM82404;ABM85593;BAD93059;BAG35257;CAG33681;EAW98680;NP_001627;P12236 Hs.350927 1678461;1690618;1736372;1742107;1796814;5022596 D13S873E;D9S1056E;GDB:191420;RH74927;RH79891;SLC25A6_1328 2;3;AAC3;ANT;ANT 2;ANT 3;ANT3;ANT3Y;MGC17525 ADP,ATP carrier protein 3;ADP,ATP carrier protein, isoform T2;ADP,ATP carrier protein, liver;ADP/ATP translocase 3;ADP/ATP translocator of liver;ANT 2;ANT 3;OTTHUMP00000022826;adenine nucleotide translocator 3;solute carrier family 25 member 6 APPROVED protein-coding 10992 02461 300151;403000 REVIEWED 732217 SLC26A2 solute carrier family 26 (anion exchanger), member 2 The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008] 5 5 q31-q34 149320493 149347156 + 149340300 149366963 + 1600010;1580863;6480464;7240710 8571951 7923357;8528239;19371798;18708426;18056413;17393463;17081983;16719839;15523498;15489334;14692227;12966518;12477932;12193993;11834742;11581495;11558903;11457925;11087667;10466420;9822202;9575183;1783404;20634891;20219950;20460514;21077202;21077204;20301483;20301493;20301524;20301689;21155763;22939629;21139048;21890473;21922596;22190686 1836 C9JAN6;H0YA38;P50443 ABBA01026288;AC008427;AF190156;AF190160;AK025078;AK290358;AK312596;AMYH01015705;AMYH01015706;AW089339;BC059390;BI912879;BQ437711;BX640696;NG_007147;NM_000112;U14528 AAA70081;AAH59390;AAQ13700;AAQ13704;BAF83047;BAG35488;CAE45819;NP_000103;P50443 Hs.302738 1665661;1666016;1796818;1854163;2169545;5015861;5037552;7185938 D10S16;D5S2618;D5S2656;D8S2279;RH65249;RH70569;SLC26A2_830 D5S1708;DTD;DTDST;EDM4;MST153;MSTP157 OTTHUMP00000160529;diastrophic dysplasia protein;diastrophic dysplasia sulfate transporter;solute carrier family 26 (sulfate transporter), member 2;solute carrier family 26 member 2;sulfate anion transporter 1;sulfate transporter APPROVED protein-coding ENSG00000155850 10994 05990 222600;226900;256050;600972;606718 REVIEWED 1603482 SLC26A5 solute carrier family 26 (anion exchanger), member 5 This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009] 7 7 q22.1 102780413 102873834 - 102993177 103086624 - 6480464;7240710 12719379;19492055;19027966;18988928;18567583;18073211;17933870;17786286;17151276;16873410;16086836;15660259;15140192;14747354;12853948;12477932;12239568;11867734;11836512;11581495;11423665;11087667;10821263;9847074;20471983;20668687;16344560;19515900;19737539;19926791;21813750;21975444;23212912 375611 E9PCM2;F8WD50;F8WDL4;P58743;Q496J0;Q496J1;Q496J3;Q7Z7F4 AACC02000005;ABBA01057985;ABBA01057986;ABBA01057987;ABBA01057988;AC004668;AC005064;AC093701;AF523354;AK126898;AMYH01017812;AY256823;AY256824;AY256825;AY289133;AY289134;BC100832;BC100833;BC100834;BC100835;CH236947;CH471070;DA197655;NG_023055;NM_001167962;NM_198999;NM_206883;NM_206884;NM_206885 AAI00833;AAI00834;AAI00835;AAI00836;AAP31417;AAP31532;AAP31533;AAP31534;AAP43685;AAP43686;EAW83334;EAW83335;NP_001161434;NP_945350;NP_996766;NP_996767;NP_996768;P58743 Hs.585146 1775653;2123879;2147014;2176493 B296YE5;RH11504;RH69239;SGC32632 DFNB61;MGC118886;MGC118887;MGC118888;MGC118889;PRES OTTHUMP00000195085;OTTHUMP00000195086;OTTHUMP00000195087;OTTHUMP00000195088;OTTHUMP00000195089;OTTHUMP00000195090;OTTHUMP00000195091;OTTHUMP00000195092;OTTHUMP00000211774;OTTHUMP00000211775;OTTHUMP00000211776;prestin;prestin (motor protein) APPROVED protein-coding ENSG00000170615 9359 09224 604943;613865 REVIEWED 6767343 SLC26A4-AS1 SLC26A4 antisense RNA 1 7 q22.3 107296961 107302243 - 10737800;12477932;14702039;16344560 286002 AACC02000004;ABBA01057906;AC002467;AC078937;AK091347;AMYH01017830;BC022493;BC037315;BC047092;BC052342;BI002805;CH236947;DA291647;DA295451;DB535533;NG_008489;NR_028137 Hs.512611 2163364 G36378 APPROVED miscrna ENSG00000233705 22385 VALIDATED 1346275 SLC26A3 solute carrier family 26 (anion exchanger), member 3 The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008] 7 7 q31 107193153 107230873 - 107405912 107443678 - 1600011;1580863;6480464;7240710 8896562 7683425;9554749;19321737;19056765;18216024;17761837;16715296;16606687;16421216;16412765;15766278;15489334;15480750;15342556;12651923;12477932;12442266;12372813;12369822;11834742;11581495;11524734;11087667;9718329;9717812;9473459;8140616;8020951;19122664;19447883;19915573;19940027;20044511;20634435;21694535;21150650;21068358;21394828;22159084;23382691 1811 C9JFJ2;F8WBL6;G5E9U3;P40879 AACC02000004;ABBA01057902;ABBA01057903;ABBA01057904;AC002467;AC005046;AK300651;AMYH01017831;BC025671;BP262081;BX640837;CH236947;CH471070;L02785;NG_008046;NM_000111 AAA58443;AAB88772;AAH25671;ABM82476;ABW03417;BAG62339;CAE45910;EAW83418;EAW83419;EAW83420;NP_000102;P40879 Hs.1650 1772002;1858082;2177308 D7S2740;DRA;STS-L02785 CLD;DRA OTTHUMP00000206742;chloride anion exchanger;down-regulated in adenoma protein APPROVED protein-coding ENSG00000091138 3018 00544 126650;214700 REVIEWED 1321983 SLC26A7 solute carrier family 26 (anion exchanger), member 7 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Splice variants that use both alternate transcription initiation and polyadenylation sites have been described for this gene. [provided by RefSeq, Jul 2008] 8 8 8 q23 88455583 88604581 + 92330692 92479554 + 92261516 92410378 + 6480464 1183472;12736153;16524946;15956810;15284286;14702039;12965893;12477932;11834742;11829495;11581495;21822266 115111 E5RFH2;E5RGL8;H0YB61;Q8TE54 ABBA01037417;ABBA01037418;AC087847;AC104967;AF331521;AJ413228;AJ413229;AJ413230;AK122933;AMYH01018876;AW235609;BC113866;BC114474;CH471060;NM_052832;NM_134266 AAI13867;AAI14475;AAK95665;CAC88370;CAC88371;CAC88372;EAW91679;EAW91680;NP_439897;NP_599028;Q8TE54 Hs.354013 1704070;1709164;1709416;1779976;1798194 SHGC-154221;SHGC-81740;SHGC-83337;SHGC-85744;SLC26A7_2006 MGC126268;SUT2 OTTHUMP00000225731;OTTHUMP00000225732;OTTHUMP00000225733;anion exchange transporter;sulfate anion transporter APPROVED protein-coding ENSG00000147606 14467 10533 608479 REVIEWED 1320955 SLC26A6 solute carrier family 26 (anion exchanger), member 6 This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013] 3 3 p21.3 48638160 48647930 - 48663156 48672926 - 1580863;6480464 19367581;19029225;20501439;18951670;18655181;18174209;17881426;17120764;17081983;16606687;16344560;15956810;15548529;15489334;14702039;12477932;12217875;11581495;11247665;11087667;10610771;14531806;19910524;21987572;21906983;12444019;15990874;21963094;22053931 65010 B4DMZ1;C9J6Y3;C9JKR6;F8W9I8;G3XAC1;H7BZ36;H7BZB1;H7BZJ6;H7C291;Q548A7;Q9BXS9;Q9Y3Y1 AB033288;AB102713;AB208936;ABBA01024642;AC121252;AF161369;AF195347;AF279265;AF288410;AF416721;AK056237;AK297695;AL050170;AMYH01013152;BC017697;CH471055;DA702248;NM_001040454;NM_001281732;NM_001281733;NM_022911;NM_134263;NM_134426 AAF20748;AAF28929;AAF81911;AAH17697;AAK19153;AAN07094;ABM82647;ABW03410;ACE87477;BAB69041;BAB71126;BAC56861;BAD92173;BAG60053;CAB43306;EAW64900;EAW64901;EAW64902;EAW64903;EAW64904;EAW64905;EAW64906;EAW64907;EAW64908;EAW64909;EAW64910;EAW64911;EAW64912;EAW64913;NP_001035544;NP_001268661;NP_001268662;NP_075062;NP_599025;NP_602298;Q9BXS9 Hs.631925;Hs.663208 2159522;2189365;2218368;5019136 CELSR3_4553;D3S4222;MARC_2903-2904:991933693:1;RH102367 DKFZp586E1422 OTTHUMP00000210293;OTTHUMP00000210294;OTTHUMP00000210295;OTTHUMP00000210296;OTTHUMP00000210298;anion transporter 1;pendrin L1;pendrin-L1;pendrin-like protein 1;solute carrier family 26 member 6;solute carrier family 26, member 6;sulfate anion transporter APPROVED protein-coding ENSG00000225697 14472 10235 610068 REVIEWED 1347727 SLC26A8 solute carrier family 26 (anion exchanger), member 8 This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010] 6 6 6 p21 37465857 37546973 - 36019271 36100355 - 35911291 35992413 - 1580863;6480464;7240710 1183472;11278976;19221096;19023099;17975119;15579655;14702039;12477932;11834742;11829495;11581495;19578796;20379614;19913121;20628086;21822266;23582645;7707528 116369 C9JMV8;H7C4T4;H7C5E6;Q96RN1 ABBA01038246;ABBA01038247;ABBA01038248;ABBA01038249;AF314959;AF331522;AI015633;AK055314;AK057276;AK097410;AK122928;AK125189;AL133507;AMYH01016269;AMYH01016270;BC025408;BG702985;CH471081;NM_001193476;NM_052961;NM_138718;Z95152 AAH25408;AAK95666;AAL26868;ADZ15533;BAB71408;EAX03862;EAX03863;EAX03864;EAX03865;EAX03866;NP_001180405;NP_443193;NP_619732;Q96RN1 Hs.435836 1648718;1695692;1796822;2161373;2183125;5018953;5022450 AL024479;D10S275;D6S1285;G42236;RH63736;SHGC-78735;SLC26A8_1266 FLJ32714;SPGF3;TAT1 OTTHUMP00000016279;OTTHUMP00000215704;OTTHUMP00000215705;anion exchange transporter;anion transporter/exchanger-8;testis anion transporter 1 APPROVED protein-coding ENSG00000112053 14468 12241 606766;608480 REVIEWED 1349953 SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 56053816 56067542 - 63701517 63715161 - 59009700 59023432 - 1580863;6480464;6907045 11980911;10479480;17266179;16552721;14702039;10749848;10471116;9671728;9642112;20945272;22089923;23415802 10998 B4DPQ1;M0R075;Q9Y2P5 AB208931;ABBA01020764;ABBA01020765;AC012313;AF064255;AK026640;AK123036;AK298446;AMYH01010039;BX103174;CH471135;NM_012254 AAD29444;AAI46388;AAI48808;BAD92168;BAG53858;BAG60663;EAW72601;NP_036386;Q9Y2P5 Hs.292177 1664829;1672064;2119234;2136662;5015861;5016478;5016596;5020414;5020946;5020948;5022200;5022322;5022450;5022578;5024272;5024761;5037552;5092786;5109281;5126439;7185938 A005O38;A006E09;D10S16;D10S275;D11S2560;D1S1423;D1S1425;D2S1254;D8S2279;G32329;G35510;GDB:434012;GDB:631802;L17688;L17971;L18426;RH17933;RH36905;SHGC-33055;SHGC-57775 ACSB;ACSVL6;BACS;BAL;FACVL3;FATP-5;FATP5;FLJ22987;VLACSR;VLCS-H2;VLCSH2 BA-CoA ligase;BACS;BAL;FATP-5;VLACS-related;bile acid-CoA ligase;bile acyl-CoA synthetase;cholate--CoA ligase;fatty acid transport protein 5;fatty-acid-Coenzyme A ligase, very long-chain 3;solute carrier family 27 member 5;very long-chain acyl-CoA synthetase homolog 2;very long-chain acyl-CoA synthetase-related protein APPROVED protein-coding ENSG00000083807 10999 04499 603314 REVIEWED 1321344 SLC26A9 solute carrier family 26 (anion exchanger), member 9 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008] 1 1 1 q32.1 179018544 179048971 - 204148799 204179211 - 205882176 205912588 - 6480464 22466613;14702039;12477932;11834742;11581495;18769029;17673510;17120765;16344560;19289574;19643730;20331378;20658517;21107309;21439353;22945630;21809345;22544634 115019 B1AVM8;B3KXK1;Q7LBE3 ABBA01027400;ABBA01027401;AF314958;AF331525;AK091876;AK127491;AL713965;AMYH01001675;BC037978;BC136538;BC144233;BC151208;CH471067;DA333352;NM_052934;NM_134325 AAI36539;AAI51209;AAK95667;AAL26867;BAC03763;BAG54513;EAW91587;EAW91588;NP_443166;NP_599152;Q7LBE3 Hs.164073 1796824 SLC26A9_1722 OTTHUMP00000034236;OTTHUMP00000034326;anion transporter/exchanger protein 9;anion transporter/exchanger-9;solute carrier family 26 member 9 APPROVED protein-coding ENSG00000174502 14469 12242 608481 REVIEWED 1604940 SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 19 19 p13.11 17442300 17477977 + 17581300 17616977 + 1642793;1642790;1642794;1642800;6480464 10807750;16611988;15281014;17034771 20356843;19361580;18660489;15978856;15897321;15489334;12818409;12477932;12235169;10873384;9671728;7954810;19913121;20628086;20965718;19523918;20416077;20360315;22318606 376497 B7Z225;B7Z662;M0QXY2;M0QZC9;Q6PCB7 ABBA01051205;ABBA01051206;ABBA01051207;ABBA01051208;ABBA01051209;AC010319;AC010618;AK131101;AK294238;AK296355;AK299852;AK315935;AMYH01009575;BC013149;BC059399;CH471106;NM_198580 AAH13149;AAH59399;BAC85151;BAH11711;BAH12327;BAH13148;BAH14306;EAW84609;EAW84610;EAW84611;NP_940982;Q6PCB7 Hs.363138 2107597;5015861;5022769;5024039;5109281;7185938 D10S16;D16S325;D1S1425;SLC27A1;SLC27A1_7258 ACSVL5;FATP;FATP1;FLJ00336;MGC71751 FATP-1;fatty acid transport protein 1;long-chain fatty acid transport protein 1;solute carrier family 27 member 1 protein-coding ENSG00000130304 10995 11863 600691 PROVISIONAL 1346073 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 15 15 15 q21.2 27367005 27421191 + 48261714 48315862 + 50474393 50528589 + 1580863;6480464 10198260;14702039;12477932;11980911;10479480;10471116;9730624;9671728;8939997;8889548;8125298;17998437;20965718;16756494;22939629;21768100;10640429;16781659;15161933;18781797;22028793;21890473;21906983;20178365 11001 G3V1R7;O14975 ABBA01039117;ABBA01039118;AC009753;AF096290;AK123905;AK222859;AK223145;AK290262;AMYH01006635;AMYH01006636;BC057770;BM980042;CH471082;D88308;NM_001159629;NM_003645 AAC64973;AAH57770;BAA23644;BAD96579;BAD96865;BAF82951;BAG53981;EAW77384;EAW77385;EAW77386;NP_001153101;NP_003636;O14975 Hs.11729 2139659;2155310;2217990;5022028 BP230006B20H5;D15S1254;D15S918;SLC27A2_2923 ACSVL1;FACVL1;FATP2;HsT17226;VLACS;VLCS;hFACVL1 FATP-2;OTTHUMP00000162414;THCA-CoA ligase;fatty acid transport protein 2;fatty-acid-coenzyme A ligase, very long-chain 1;long-chain-fatty-acid--CoA ligase;solute carrier family 27 member 2;very long-chain acyl-CoA synthetase;very long-chain fatty-acid-coenzyme A ligase 1;very long-chain-fatty-acid-CoA ligase;very-long-chain acyl-CoA synthetase APPROVED protein-coding ENSG00000140284 10996 11935 603247 REVIEWED 1321607 SLC27A3 solute carrier family 27 (fatty acid transporter), member 3 1 1 1 q21.3 126819362 126824227 + 152014392 152019257 + 153747768 153752633 + 6480464 16710414;15489334;15469937;14702039;12975309;12477932;9671728;20965718;19920185;21987572;21906983 11000 H0YDM5;H0YDP0;H7BZH4;Q9BTJ5 ABBA01049450;AJ577572;AK027499;AK074134;AK075377;AK123997;AK125102;AL513523;AMYH01001406;AY358409;BC003041;BC003654;BC009916;BC029792;CH471121;NM_024330 AAH03041;AAH03654;AAH09916;AAH29792;AAQ88775;ABM84355;ABM86877;BAB55156;BAB84960;BAC11578;BAC86050;CAE12158;CAE12159;EAW53274;EAW53275;EAW53276;EAW53277;EAW53278;NP_077306;Q5K4L6 Hs.438723 1649155;1676123;1677810;1734638;2108479;2120117 A005A27;D1S1775E;RH36580;RH80662;RH94084;SLC27A3_7986 ACSVL3;FATP3;MGC4365;VLCS-3 FATP-3;OTTHUMP00000035252;OTTHUMP00000038688;fatty acid transport protein 3;long-chain fatty acid transport protein 3;solute carrier family 27 member 3;very long-chain acyl-CoA synthetase homolog 3 protein-coding ENSG00000143554 10997 11967 604193 PROVISIONAL 733249 SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1 15 15 q25.3 83228917 83290033 + 85427913 85489027 + 1580863;6480464 9124315;19228884;19139132;19107936;19074885;18635603;18604194;18600541;18538445;18207572;17926640;17453413;17279631;17187757;15456697;15386342;14978229;14668133;14581375;12477932;12411296;12388627;12097333;11396613;11353816;10455109;10087507;22644860;20854794;19647871;19912163;20028759;20392501;20665488;20734919;21343396;22580602;21998139;22005931 9154 B7Z3L6;B7Z3M4;B7Z533;F5H560;O00337;Q96PL7 ABBA01052950;AC087468;AC103741;AF187978;AF309632;AK291997;AK296074;AK296075;AK296119;AK298369;AK309578;AMYH01006872;BC029788;BC039898;BC126204;BC126206;BC143908;CH471101;NM_004213;NM_201651;U62967;U62968 AAB53838;AAB53839;AAF15353;AAH29788;AAH39898;AAI26205;AAI26207;AAL09447;ADR83106;BAF84686;BAH12251;BAH12252;BAH12260;BAH12769;EAX01962;EAX01963;EAX01964;NP_004204;NP_964014;O00337 Hs.459187 1698468;1740555;2220016 D15S1123;RH102783;SLC28A1_4162 CNT1;HCNT1 CNT 1;Na(+)/nucleoside cotransporter 1;OTTHUMP00000192893;OTTHUMP00000192894;concentrative nucleoside transporter 1;sodium-coupled nucleoside transporter 1;sodium/nucleoside cotransporter 1;solute carrier family 28 member 1 APPROVED protein-coding ENSG00000156222 11001 07068 606207 VALIDATED 1323714 SLC27A6 solute carrier family 27 (fatty acid transporter), member 6 This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q23.3 124432488 124500533 + 128329109 128397234 + 128301210 128369335 + 1642800;6480464 17034771 10471116;16169070;15489334;12556534;12477932;10749848;10479480;9671728;19322201;20965718;21920065;21906983 28965 D6RAJ2;Q9Y2P4 AA614135;ABBA01068859;ABBA01068860;ABBA01068861;AC004636;AC006959;AF064254;AK313456;AL833117;AMYH01015605;BC041945;BX537383;CH471062;CR457129;NM_001017372;NM_014031 AAD29443;AAH41945;BAG36243;CAD97625;CAG33410;EAW62387;NP_001017372;NP_054750;Q9Y2P4 Hs.49765 1690828;1751417;2110743 RH92144;SHGC-105248;SLC27A6_7213 ACSVL2;DKFZp779M0564;FACVL2;FATP6;VLCS-H1 FATP-6;OTTHUMP00000159240;OTTHUMP00000223224;OTTHUMP00000223225;VLCSH1;fatty acid transport protein 6;fatty-acid-Coenzyme A ligase, very long-chain 2;hVLCS-H1;long-chain fatty acid transport protein 6;solute carrier family 27 member 6;very long-chain acyl-CoA synthetase homolog 1 APPROVED protein-coding ENSG00000113396 11000 09173 604196 REVIEWED 1316551 SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010] 9 9 q34.11 130142661 130163323 + 131102839 131123749 + 1625640;1625638;6480464;7240710 16248953;15168018 9878842;17353931;17901542;15489334;15164053;14715877;14702039;12477932;10518211;9671728;14985385;19631310;20416077;20424473;8358434;9115920;20562859;20815031;20965718;22235293;21987572;22028793;21139048;21906983;23271751;21988832;22190034 10999 Q6P1M0;Q96G53 AA350218;ABBA01043877;AF055899;AI478495;AK000722;AK027504;AK074831;AK290222;AK314681;AL359091;AMYH01021743;AMYH01021744;BC004268;BC009959;BC065003;CH471090;H16504;NG_017057;NM_005094 AAD11623;AAH04268;AAH09959;AAH65003;BAF82911;BAG51333;BAG52010;EAW87779;EAW87780;NP_005085;Q6P1M0 Hs.656699 1335180;1796826;2139127;2139129;2143829;2176733;2220634 A005S23;D9S778;G17286;G20461;SLC27A4_834;UniSTS:486843;WI-13928 ACSVL4;FATP4;IPS OTTHUMP00000022264;long-chain fatty acid transport protein 4 APPROVED protein-coding ENSG00000167114 10998 09172 604194;608649 REVIEWED 5688829 SLC29A4P1 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 1 7 p11.2 57081992 57087978 - 402509 AC069152;AC122133;AMYH01017320;AMYH01017321;NG_022537 pseudo 43783 INFERRED 6480185 SLC29A4P2 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 2 7 q11.21 63016976 63022966 + 100132308 AC006015;AC006457;AMYH01017404;NG_022561 pseudo 43782 INFERRED 731872 SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3 Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008] 9 9 q22.2 86082912 86173233 - 86890765 86983413 - 1580863;6480464 19318496;19297449;19074885;18827020;18621735;18199742;17993510;17926640;17696452;17453413;17412768;17409283;16446384;16271041;15870078;15861042;15738947;14504928;12477932;11032837;19380585;19380587;20028759;20172853;20379614;20339536;14702039;16344560;20643903;20495821;21346688;21822668;23192594;23251661 64078 B2RA51;F5GYE3;Q9HAS3 AA643687;ABBA01034018;ABBA01034019;ABBA01034020;AF305210;AK022042;AK292849;AK304406;AK310861;AK314039;AL353787;AL356134;AMYH01021465;BC093821;BC093823;CH471089;DB218604;DB237216;NM_001199633;NM_022127;NR_037638 AAG22551;AAH93821;AAH93823;BAF85538;BAG36748;BAG65240;EAW62686;NP_001186562;NP_071410;Q9HAS3 Hs.535966 1652142;1766559 G17301;SHGC-149871 CNT3 CNT 3;OTTHUMP00000021567;concentrative Na(+)-nucleoside cotransporter 3;concentrative Na+-nucleoside cotransporter;hCNT3;solute carrier family 28 member 3 APPROVED protein-coding ENSG00000197506 16484 12200 608269 VALIDATED 732572 SLC28A2 solute carrier family 28 (concentrative nucleoside transporter), member 2 15 15 q15 43331726 43355425 + 45544428 45568132 + 1580863;6480464 12110519;9435697;19098160;19074885;18635603;17926640;17700367;17696452;17453413;17187757;16840788;15861032;15489334;15486050;15044622;12893280;12477932;12411296;11602688;11162617;10455109;10087507;8125298;20028759;20379614;20392501;20506327;22229870;23149444 9153 H0YNK4;H0YNM6;O43868;Q2M2A7;Q53H72 ABBA01039186;AC051619;AF036109;AK025121;AK222709;AK291974;AMYH01006617;BC093737;BC112047;CH471082;NM_004212;U84392 AAB88539;AAC51930;AAH93737;AAI12048;BAD96429;BAF84663;EAW77303;EAW77304;NP_004203;O43868 Hs.367833 5014051;5015619;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426 CNT2;FLJ21468;HCNT2;HsT17153;MGC138252;SPNT1 CNT 2;Na(+)/nucleoside cotransporter 2;OTTHUMP00000162119;SPNT;concentrative nucleoside transporter 2;sodium-coupled nucleoside transporter 2;sodium/nucleoside cotransporter 2;sodium/purine nucleoside co-transporter;solute carrier family 28 member 2;solute carrier family 28, member 2 APPROVED protein-coding ENSG00000137860 11002 07069 606208 VALIDATED 6770546 SLC2A1-AS1 SLC2A1 antisense RNA 1 1 p34.2 43424720 43449029 + 14702039 440584 ABBA01050968;AC099795;AI025943;AK056786;AMYH01000555;BU657382;NR_033967 Hs.260928 2143124;2186221;5037552 D19S1065;D1S2553;D8S2279 APPROVED miscrna ENSG00000227533 44187 VALIDATED 733577 SLC29A2 solute carrier family 29 (equilibrative nucleoside transporter), member 2 The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008] 11 11 q13 65886568 65895867 - 66129992 66139291 - 1580863;6480464 15386342;14702039;14612157;12838422;12820662;12590919;12527552;12477932;12411296;12006583;9478986;9192854;9396714;7639753;19297449;19105964;18945750;18703227;18635603;17926640;17921321;16924660;16214850;15649894;15644498;15489334;20392501;21156465;21906983;21987572;21822668;21926972;21963094 3177 G5E943;Q14542;Q96FB2 ABBA01024082;AF029358;AF034102;AF401235;AK057041;AMYH01003734;AP001107;BC011387;BC093634;BC143335;CH471076;NM_001532;X86681 AAB97834;AAC39526;AAH11387;AAH93634;AAK92533;BAG51849;CAA60380;EAW74519;EAW74520;EAW74521;EAW74522;NP_001523;Q14542 Hs.569017 2139608;2161809 RH79174;STS-X86681 DER12;ENT2;HNP36 36 kDa nucleolar protein HNP36;OTTHUMP00000240013;OTTHUMP00000240014;OTTHUMP00000240015;OTTHUMP00000240016;OTTHUMP00000240018;delayed-early response protein 12;equilibrative NBMPR-insensitive nucleoside transporter;equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter;equilibrative nucleoside transporter 2;hydrophobic nucleolar protein, 36 kDa;hydrophobic nucleolar protein, 36kD;nucleoside transporter, ei-type;solute carrier family 29 member 2;solute carrier family 29, member 2 APPROVED protein-coding ENSG00000174669 11004 03662 602110 VALIDATED 1351725 SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3 This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010] 10 10 q22.1 72749016 72793153 + 73079010 73123147 + 1302477;1580863;6480464;7240710 11396612 19336477;19164483;18940313;15701636;15489334;14702039;12975309;12477932;12384580;20677642;20199539;20595384;16385451;19581757;19889517;20140240;20392501;22238637;22875837;22951725;23251661;23273568;22653152 55315 Q9BWI2 ABBA01019638;ABBA01019639;AF326987;AK002022;AK304503;AK314497;AK316152;AL359183;AL359384;AMYH01002815;AX775915;AX775917;AX775919;AX775921;AY288928;AY358686;BC000223;BC041575;BC050589;BC063019;BC120996;BC120997;BK000392;CH471083;CQ834384;DC319920;NG_017066;NM_001174098;NM_018344;NR_033413;NR_033414 AAH00223;AAH41575;AAI20997;AAI20998;AAK00958;AAP41133;AAQ89049;BAA92041;BAG37097;BAG65311;BAH14523;CAE11657;CAE11658;CAE11659;CAE11660;CAH05407;DAA00364;EAW54423;EAW54424;EAW54425;NP_001167569;NP_060814;Q9BZD2 Hs.438419 1668756;1762863;1763663;1764467;1765553 SHGC-146629;SHGC-147348;SHGC-148072;SHGC-149021;WI-17123 ENT3;FLJ11160;HCLAP;HJCD;PHID OTTHUMP00000019773;equilibrative nucleoside transporter 3 APPROVED protein-coding ENSG00000198246 23096 11570 602782;612373 REVIEWED 1321510 SLC29A4 solute carrier family 29 (equilibrative nucleoside transporter), member 4 This gene is a member of the SLC29 family and encodes a plasma membrane protein with 11 transmembrane helices. This protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternate transcriptional splice variants which encode the same protein have been characterized. [provided by RefSeq, Jul 2008] 7 7 p22.1 5289087 5310230 + 5322561 5343704 + 1580863;6480464 19357181;18523561;17393420;17121826;17018840;16873718;16099839;15448143;14702039;12838422;12477932;8889548;20392501;20858707;21822668;22562044 222962 C9IYM7;C9JZA2;Q7RTT9 ABBA01039449;AC093376;AK075422;AK092242;AK296278;AL515106;AMYH01016999;AMYH01017000;AMYH01017001;AY485959;BC025325;BC047592;BK000627;BM069878;BU740709;CH471144;H07897;NM_001040661;NM_153247 AAH25325;AAH47592;AAS65965;BAC03836;BAC11612;BAG58987;DAA00308;EAW87329;EAW87330;NP_001035751;NP_694979;Q7RTT9 Hs.4302 2153973;5114316;5115165;7187850 D7S2126E;D7S541E;T15458 ENT4;FLJ34923;PMAT OTTHUMP00000025415;OTTHUMP00000200583;OTTHUMP00000200584;equilibrative nucleoside transporter 4;hENT4;plasma membrane monoamine transporter;solute carrier family 29 member 4 APPROVED protein-coding ENSG00000164638 23097 15362 609149 REVIEWED 737565 SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 p21.1 44295220 44309866 + 44187242 44201888 + 1580863;2316942;2316941;6480464 15829178;16873415 8986748;14667819;19428333;19349719;19318496;19297449;19222701;19193655;19164463;19116148;18703227;18635603;18600541;18462193;18187485;18064606;17926640;17921321;17658213;17409283;17162590;16858130;16818276;16818266;16688763;16609362;16595656;16344560;16333246;15933265;15649894;15632314;15557207;15529184;15489334;14759222;14702039;14607828;12820662;12527552;12477932;12389626;12384580;12097333;12008078;12006583;11814344;11584005;10755314;9396714;9344680;8889548;19913121;20608756;20628086;20665488;20734919;20812847;22212648;20814156;20839414;19801629;19853583;19874574;20028759;20032083;20113503;20185188;20392501;20453000;20720035;20883780;22644860;22985987;22837314;21455275;21283641;21395582;21898089;21264835;21336182;21645551;21795683;21139048;21678404;21890473;21906983;21987572;21822668;22349506;22314683;21963094;22053931;23000965;23095574;22505724;22705007 2030 B3KQV7;Q99808 AB490708;AB490709;ABBA01050643;AF079117;AF190884;AF495730;AK090491;AK090615;AK293558;AK304285;AL139392;AMYH01016319;AMYH01016320;AMYH01016321;AX775997;BC001382;BC008954;BC095398;BM661584;CB996332;CH471081;DA559201;DA680982;DC396448;NM_001078174;NM_001078175;NM_001078176;NM_001078177;NM_004955;U81375 AAC51103;AAC62495;AAF02777;AAH01382;AAH08954;AAM11785;ABM83059;ABM86253;BAG52169;BAG52197;BAH11534;BAH14150;BAI39492;BAI39493;CAE11698;EAX04254;EAX04255;EAX04256;NP_001071642;NP_001071643;NP_001071644;NP_001071645;NP_004946;Q99808 Hs.25450 1651036;1762405;1796828;2183255 RH36576;RH67942;SHGC-146237;SLC29A1_838 ENT1;MGC1465;MGC3778 OTTHUMP00000016506;OTTHUMP00000016507;OTTHUMP00000016508;OTTHUMP00000016509;OTTHUMP00000016510;OTTHUMP00000016511;OTTHUMP00000016512;equilibrative NBMPR-sensitive nucleoside transporter;equilibrative nitrobenzylmercaptopurine riboside (NBMPR)-sensitive nucleoside transporter;equilibrative nitrobenzylmercaptopurine riboside-sensitive nucleoside transporter;equilibrative nucleoside transporter 1;nucleoside transporter, es-type;solute carrier family 29 member 1;solute carrier family 29, member 1 APPROVED protein-coding ENSG00000112759 11003 03724 602193 REVIEWED 1354509 SLC2A11 solute carrier family 2 (facilitated glucose transporter), member 11 SLC2A11 belongs to a family of plasma membrane proteins that mediate transport of sugars across the membrane by facilitative diffusion (Sasaki et al., 2001 [PubMed 11741323]).[supplied by OMIM, Mar 2008] 22 22 22 q11.23 8036832 8065494 + 22529059 22557390 + 24199059 24227738 + 1580863;6480464 17710649;16303743;16154905;15461802;12477932;12175779;11741323;11583593;14702039;19423540;20406964;20438785;22452979 66035 B5MCM1;B5MCM7;F8WB79;F8WBG9;F8WBK0;F8WCV3;F8WFA8;Q504W2;Q6PJ99;Q9BYW1 AA888149;AB049214;AB067442;AB067443;AB067444;AB209301;ABBA01055124;AF443201;AF479409;AJ271290;AK075467;AK092466;AK296169;AK300196;AK304409;AK308589;AK308602;AK314502;AK315937;AK316049;AMYH01012647;AP000350;BC018967;BC063525;BC094735;BC100807;BC100808;BC100809;BC100810;CH471095;CR456373;CS051291;NM_001024938;NM_001024939;NM_030807 AAH18967;AAH63525;AAH94735;AAI00808;AAI00809;AAI00810;AAI00811;AAL39061;AAL87108;BAB68410;BAB83504;BAB83505;BAB83506;BAC11637;BAD92538;BAG37102;BAG58907;BAG65242;BAH13236;BAH14308;BAH14420;CAC29020;CAG30259;CAI72140;CAK54509;CAK54808;EAW59613;EAW59614;EAW59615;EAW59616;EAW59617;EAW59618;NP_001020109;NP_001020110;NP_110434;Q9BYW1 Hs.743282 1671464;1687978;5015961;5016478;5037552 D15S1477;D8S2279;G27734;GDB:434012;RH93042 GLUT10;GLUT11;MGC118830;MGC118833;SLC2A11-a;SLC2A11-c GLUT-10;GLUT-11;OTTHUMP00000198421;OTTHUMP00000198422;OTTHUMP00000198472;facilitative glucose transporter GLUT11;glucose transporter protein 10;glucose transporter protein 11;glucose transporter type 10;glucose transporter type 11;glucose transporter-like protein XI;solute carrier family 2, facilitated glucose transporter member 11 APPROVED protein-coding ENSG00000133460 14239 11571 610367 VALIDATED 1315233 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009] 20 20 q13.1 44771686 44798393 + 45338279 45364986 + 1580863;6480464;7240710 11247674;18818946;18774132;18565096;16586067;16550171;16336637;16051383;15975113;15936967;15679832;15489334;14702039;12941788;12890477;12554125;12477932;11780052;11592815;19913121;20628086;20735855;20379614;21890473;22001912 81031 O95528;Q8TDC7 ABBA01052683;AF248053;AF321240;AF479407;AK055548;AK290961;AK315269;AL031055;AL137188;AMYH01011945;BC101657;BC113423;CH471077;NG_016284;NM_030777 AAI01658;AAI13424;AAK26294;AAK31911;AAL87106;ADR83042;BAF83650;BAG37684;BAG51534;CAB69822;EAW75724;NP_110404;O95528 Hs.305971 1336023;1336375;1675216;1770462;1798196;1851125;2141717;2161691;5022200 D20S885;D20S893;L18426;RH66093;SGC44522;SHGC-44522;SLC2A10_1831;STS-N36110;Z94364 ATS;GLUT10;MGC126706 GLUT-10;OTTHUMP00000031212;glucose transporter type 10;solute carrier family 2, facilitated glucose transporter member 10 APPROVED protein-coding ENSG00000197496 13444 05851 208050;606145 REVIEWED 1343832 SLC2A3P1 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 1 5 5 5 q34 164014847 164016006 - 167908076 167913403 - 167979499 167980658 - 6480464 1695905;11882521 100128062 ABBA01044122;AC020894;AMYH01015796;NG_008263 1676316;1777882;1854298;2153634;2170900 RH68356;RH69142;RH93527;UniSTS:14879;WI-15765 GLUT3P1;GLUT6;SLC2A3P pseudo 11008 INFERRED 1354392 SLC2A3P2 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 2 1 1 1 p31.3 63739380 63742692 - 65221154 65224479 - 65448479 65451791 - 11882521 391045 ABBA01074552;AC025866;AL606517;AMYH01000682;NG_005841 pseudo 31074 INFERRED 1345033 SLC2A3P3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3 11882521 399494 AC006517 31075 1347560 SLC2A3P4 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 8 8 q21.3 83710219 83713750 + 87515645 87519176 + 399495 ABBA01037362;AC103817;AMYH01018859;NG_009577 1756391 SHGC-143357 pseudo 31076 INFERRED 1320922 SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008] 6 6 6 q23.2 135049799 135114783 - 134350412 134415482 - 134308719 134373789 - 1580863;6480464 18978678;16803853;16344560;16091581;14702039;12914765;12890477;12583599;12477932;11832379;11780753;19549745;20734064;20965718;21890473;23000965;23302780;23396969 154091 Q8TD20 ABBA01025866;AK056554;AK122628;AK226098;AL035699;AL449363;AL833602;AMYH01016684;AY046419;BC070149;BX648889;CH471051;DB253903;NM_145176 AAH70149;AAL02327;BAB71214;BAG53629;EAW47994;NP_660159;Q8TD20 Hs.486508 1762355;2116219;2153920;2185919 RH46699;SHGC-146189;STS-N20817;WI-14629 GLUT12;GLUT8 GLUT-12;OTTHUMP00000017245;glucose transporter type 12;solute carrier family 2, facilitated glucose transporter member 12 APPROVED protein-coding 18067 11572 610372 VALIDATED 737272 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013] 1 1 p34.2 43164102 43197088 - 43391046 43424847 - 1624245;1580863;1626159;1625539;2313601;2313617;730192;2313620;2312290;2312305;2312289;2303167;2312306;6480464;6484113;6907045;7240710 9462754;15449578;15466941;19781384;17935675;11738800;8179300;9789717;15745834;7516306;2211693;18613291 16344560;10227690;19587357;19554504;19533890;19449892;19420105;19386788;19366592;19347605;19303158;19289587;19286567;19234439;19166280;19152396;19142800;19085834;19020742;19020718;19016655;18990414;18987250;18981181;18973239;18953257;18948400;18821326;18764953;18726700;18695903;18676680;18614966;18577546;18565734;18451999;18410529;18401196;18387950;18351386;18343752;18324916;18311082;18290322;18271924;18245775;18227718;18212354;18191496;18177733;18172662;18097583;17727838;17635959;17611657;17591274;17504522;17452775;17451637;17442736;17404017;17387384;17294670;17192790;17167225;17081065;17080242;17071132;17064664;17020877;16842248;16800634;16681688;16681687;16519917;16443776;16407180;16310037;16273245;16220828;16195374;16172126;16147855;16142350;16136514;16126902;16125330;15967114;15955807;15847702;15823019;15778389;15767416;15709778;15682272;15502921;15489334;15454279;15342556;15331928;15147968;15086844;15073187;14991538;14757434;14702039;14688257;14674124;14622599;12969152;12942120;12849991;12752470;12673735;12583599;12554125;12477932;12379106;12379105;12145475;12133004;12122099;12112827;12086959;12064911;11991658;11953883;11920478;11842083;11836704;11774318;11747430;11681785;11603379;11477169;11425315;11296192;11231353;11168944;11136715;11007796;10980529;10759149;10655495;10562431;22509097;21270293;21475039;22814174;22843905;22363641;10198040;10086067;9153243;9110174;8839927;8662691;8619474;7829101;7798206;3839598;3170580;3028891;2834252;2394733;16169070;14679154;20395120;20574033;21109935;21281236;21306648;21317389;21343253;15924676;17554865;17991316;18246802;18422279;19170196;19173807;19292042;19304421;19434538;19465749;19490621;19533082;19536037;19569052;19619276;19625176;19630075;19648108;19648882;19655166;19681047;19692168;19798636;19819644;19822956;19883765;19948975;19955252;20030103;20063428;20113375;20221955;20424473;20540786;21273616;20703861;20730618;20965718;20526721;20569445;19709351;20375117;20527231;15166316;20428049;20846124;20937822;21033220;20947823;20382060;20679470;21135204;20687207;21194153;20301603;20854211;20512538;20630673;21029693;21384913;21870331;21899256;21321933;20607826;21411785;21332301;22029179;20803547;21295279;21348951;20079187;22835601;23187830;21445818;21521642;21528061;21206329;21555602;21832227;21438910;21442770;21395180;22069254;21697701;22901702;1429721;21075472;22795339;22939629;23106342;21252943;21938742;22200795;21987572;22199327;22263435;21546213;21791420;21838819;21707071;22011817;22376167;22470192;22971162;23453806;21139048;21808860;21906983;21986508;22253523;21962875;22072148;22153830;22234250;22270867;22398711;22228332;22282645;17854396;23359198;19471022;21987722;22234467;22308487;22475893;21920790;21294792;23098453;22221271;18347014;19738201;21963094;22304920;22623428;22961556;23000965;23002041;22282454;23108021;23219802;22800355;23030583;22437877;22483234;22663547;22673619;22813791;22704013;22707195;22812641;23280796 6513 A6NL68;C9JIM8;C9JR18;P11166;Q59GX2 AB208987;ABBA01050968;ABBA01050969;AC099795;AF070544;AK122999;AK292791;AK293306;AK296736;AK312403;AMYH01000555;AW137914;AY034633;BC118590;BC121804;BG682043;BI490999;BP314853;BQ948542;CH471059;CQ918450;DA753077;K03195;M20653;NG_008232;NM_006516 AAA52571;AAB61084;AAC28635;AAI18591;AAI21805;AAK56795;BAD92224;BAF85480;BAG35317;BAG53842;BAG56827;BAG59323;CAI23886;EAX07123;EAX07124;NP_006507;P11166 Hs.473721 1651965;1672711;1690518;1696950;1771190;1790363;1796830;2116664;2148306;2153078;2170181 G09541;RH101947;RH11019;RH68258;RH68980;RH91471;SHGC-2652;SHGC-74680;SLC2A1;SLC2A1_1316;WI-15743 DYT17;DYT18;DYT9;EIG12;GLUT;GLUT1;GLUT1DS;HTLVR;MGC141895;MGC141896;PED GLUT-1;OTTHUMP00000009006;glucose transporter type 1, erythrocyte/brain;hepG2 glucose transporter;human T-cell leukemia virus (I and II) receptor;solute carrier family 2, facilitated glucose transporter member 1;solute carrier family 2,member 1 APPROVED protein-coding ENSG00000117394 11005 00683 138140;601042;606777;612126;614847 REVIEWED 730861 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 3 3 q26.1-q26.2 172196831 172227462 - 170714137 170744768 - 1624252;1624253;1580863;2312359;1626159;2312358;2312360;2311061;2324977;2324976;2324975;6480464;6484113;6907045;7240710 8027028;9354798;17636114;15449578;19433262;17235524;18774732;8421107;12114701;19252908 19554504;19303158;19269875;19223655;18349384;18239936;18220613;17204838;17192490;17141226;17065357;15983230;15009676;14614558;14551916;13480676;12477932;12017192;11988093;11978637;11810292;11592815;11344224;11247674;11044475;10987651;10697967;9686354;9266402;8923459;8626492;8482435;8063045;7593639;3399500;1862003;1852621;15889141;19913121;20628086;21852673;20066028;20081858;20142250;20201351;20419449;20424473;20800603;21832049;22993150;20564476;22660720;22865906;23341889;22145468;23185617;21920790;21943636;22581228;22214819;22001757;22221271;22350464;23396969;23010768 6514 C9J0E8;F8W8V8;F8WBJ2;P11168 ABBA01058669;AC061708;AC092918;AK290846;AK292741;AK298418;AK313622;AMYH01013646;BC060041;CH471052;HC890011;HC901936;J03810;L09674;NG_008108;NM_000340;NM_001278658;NM_001278659 AAA59514;AAH60041;BAF83535;BAF85430;BAG36383;BAH12783;CBN59495;CBN65426;EAW78498;EAW78499;EAW78500;NP_000331;NP_001265587;NP_001265588;P11168 Hs.167584 1644887;1741343;1741435;1741997;1774905;1777476;1796832;2110899;2151684;2159224;2185639;2186513;2190811;5090920 D3S1355E;D3S3881;GDB:180741;GDB:181209;GDB:188623;RH68967;RH69731;RH70213;SHGC-77533;SHGC-77535;SLC2A2;SLC2A2_841;STS-H60870;WI-11773 GLUT2 GLUT-2;OTTHUMP00000213823;glucose transporter type 2, liver;solute carrier family 2, facilitated glucose transporter member 2 1643508 BW262_H APPROVED protein-coding ENSG00000163581 11006 00685 138160;227810 REVIEWED 731999 SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 12 12 12 q12 38952820 39302877 - 38435090 38785928 - 40148823 40499661 - 634137;1580863;6480464 11500374 17081983;15489334;15203218;12477932;19473719;19607714;19915576;20379614;22451204 114134 E9PE47;Q96QE2 ABBA01049538;ABBA01049539;ABBA01049540;ABBA01049541;AC079630;AC117403;AC121335;AC121336;AJ315644;AK000182;AK026495;AMYH01004390;AMYH01004391;AMYH01004392;AMYH01004393;BC039431;BC047507;BC117117;BC117119;CD635353;CH471111;NM_052885 AAH47507;AAI17118;AAI17120;CAC51116;EAW57811;NP_443117;Q96QE2 Hs.558595 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A001X31;D12S1243E;D12S833;D17S610;D1S1425;ECD00065;ECD00362;ECD00399;ECD00492;ECD00910;ECD00996;ECD01190;ECD01191;ECD01241;ECD01272;ECD01512;ECD01573;ECD01653;ECD01904;ECD02015;ECD02293;ECD02323;ECD02374;ECD02432;ECD02497;ECD02636;ECD02910;ECD02994;ECD02995;ECD03648;ECD04553;ECD04620;ECD05153;ECD05217;ECD05361;ECD05433;ECD05536;ECD05660;ECD05661;ECD05706;ECD05787;ECD05815;ECD05816;ECD05943;ECD06061;ECD06062;ECD06209;ECD06246;ECD06314;ECD07028;ECD07029;ECD07307;ECD07340;ECD07580;ECD07726;ECD07897;ECD08024;ECD08110;ECD08753;ECD08784;ECD08952;ECD08953;ECD09240;ECD09288;ECD09433;ECD09514;ECD09760;ECD09761;ECD10030;ECD10212;ECD10368;ECD10408;ECD10542;ECD10703;ECD10739;ECD10769;ECD10970;ECD10971;ECD11111;ECD11227;ECD11323;ECD11577;ECD11655;ECD12023;ECD12147;ECD12424;ECD12501;ECD12623;ECD12624;ECD13198;ECD13511;ECD13837;ECD14286;ECD14467;ECD14742;ECD14785;ECD14925;ECD14995;ECD15634;ECD15917;ECD16334;ECD16515;ECD16538;ECD16615;ECD16857;ECD17022;ECD17133;ECD17134;ECD17317;ECD17355;ECD17377;ECD17838;ECD17994;ECD18153;ECD18154;ECD18179;ECD18352;ECD18678;ECD18733;ECD19193;ECD19340;ECD19375;ECD20001;ECD20154;ECD20365;ECD20444;ECD21292;ECD21422;ECD22232;ECD23266;ECD23450;ECD23655;ECD23858;ECD23891;ECD23947;ECD24012;ECD24154;ECD24253;ECD24349;ECD24392;ECD24459;G19755;HSC14C022;REN26234;REN26235;REN26236;REN26237;REN26238;REN26239;REN26240;REN26241;REN26242;REN26243;REN26244;REN26245;REN26246;REN26247;REN26248;REN26249;REN26250;REN26251;REN26252;REN26253;REN26254;REN26255;REN26256;REN26257;REN26258;REN26259;REN26260;REN26261;REN26262;REN26263;REN26264;REN26265;REN26266;REN26267;REN26268;REN26269;REN26270;REN26271;REN26272;REN26273;REN26274;REN26275;REN26276;REN26277;REN26278;REN26279;REN26280;REN26281;REN26282;REN26283;REN26284;REN26285;REN26286;REN26287;REN26288;REN26289;REN26290;REN26291;REN26292;REN26293;REN26294;REN26295;REN26296;REN26297;REN26298;REN26299;REN26300;REN26301;REN26302;REN26303;REN26304;REN26305;REN26306;REN26307;REN26308;REN26309;REN26310;REN26311;REN26312;REN26313;REN26314;REN26315;REN26316;REN26317;REN26318;REN26319;REN26320;REN26321;REN26322;REN26323;REN26324;REN26325;REN26326;REN26327;REN26328;REN26329;REN26330;REN26331;REN26332;REN26333;REN26334;REN26335;REN26336;REN26337;REN26338;REN26339;REN26340;REN26341;REN26342;REN26343;REN26344;REN26345;REN26346;REN26347;REN26348;REN26349;REN26350;REN26351;REN26352;REN26353;REN26354;REN26355;REN26356;REN26357;REN26358;REN26359;REN26360;REN26361;REN26362;REN26363;REN26364;REN26365;REN26366;REN26367;REN26368;REN26369;REN26370;REN26371;REN26372;REN26373;REN26374;REN26375;REN26376;REN26377;REN26378;REN26379;REN26380;REN26381;REN26382;REN26383;REN26384;REN26385;REN26386;REN26387;REN26388;REN26389;REN26390;REN26391;REN26392;REN26393;REN26394;REN26395;REN26396;REN26397;REN26398;REN26399;REN26400;REN26401;REN26402;REN26403;REN26404;REN26405;REN26406;REN26407;REN26408;REN26409;REN26410;REN26411;REN26412;REN26413;REN26414;REN26415;REN26416;REN26417;REN26418;REN26419;REN26420;REN26421;REN26422;REN26423;REN26424;REN26425;REN26426;REN26427;REN26428;REN26429;REN26430;REN26431;REN26432;REN26433;REN26434;REN26435;REN26436;REN26437;REN26438;REN26439;REN26440;REN26441;REN26442;REN26443;REN26444;REN26445;REN26446;REN26447;REN26448;REN26449;REN26450;REN26451;REN26452;REN26453;REN26454;REN26455;REN26456;REN26457;REN26458;REN26459;REN26460;REN26461;REN26462;REN26463;REN26464;REN26465;REN26466;REN26467;REN26468;REN26469;REN26470;REN26471;REN26472;REN26473;REN26474;REN26475;REN26476;REN26477;REN26478;REN26479;REN26480;REN26481;REN26482;REN26483;REN26484;REN26485;REN26486;REN26487;REN26488;REN26489;REN26490;REN26491;REN26492;REN26493;REN26494;REN26495;REN26496;REN26497;REN26498;REN26499;REN26500;REN26501;REN26502;REN26503;REN26504;REN26505;REN26506;REN26507;REN26508;REN26509;REN26510;REN26511;REN26512;REN26513;REN26514;REN26515;REN26516;REN26517;REN26518;REN26519;REN26520;REN26521;REN26522;REN26523;REN26524;REN26525;REN26526;REN26527;REN26528;REN26529;REN26530;REN26531;REN26532;REN26533;REN26534;REN26535;REN26536;REN26537;REN26538;REN26539;REN26540;REN26541;REN26542;REN26543;REN26544;REN26545;REN26546;REN26547;REN26548;REN26549;REN26550;REN26551;REN26552;REN26553;REN26554;REN26555;REN26556;REN26557;REN26558;REN26559;REN26560;REN26561;REN26562;REN26563;REN26564;REN26565;REN26566;REN26567;REN26568;REN26569;REN26570;REN26571;REN26572;REN26573;REN26574;REN26575;REN26576;REN26577;REN26578;REN26579;REN26580;REN26581;REN26582;REN26583;REN26584;REN26585;REN26586;REN26587;REN26588;REN26589;REN26590;REN26591;REN26592;REN26593;REN26594;REN26595;REN26596;REN26597;REN26598;REN26599;REN26600;REN26601;REN26602;REN26603;REN26604;REN26605;REN26606;REN26607;REN26608;REN26609;REN26610;REN26611;REN26612;REN26613;REN26614;REN26615;REN26616;REN26617;REN26618;REN26619;REN26620;REN26621;REN26622;REN26623;REN26624;REN26625;REN26626;REN26627;REN26628;REN26629;REN26630;REN26631;REN26632;REN26633;REN26634;REN26635;REN26636;REN26637;REN26638;REN26639;REN26640;REN26641;REN26642;REN26643;REN26644;REN26645;REN26646;REN26647;REN26648;REN26649;REN26650;REN26651;REN26652;REN26653;REN26654;REN26655;REN26656;REN26657;REN26658;REN26659;REN26660;REN26661;REN26662;REN26663;REN26664;REN26665;REN26666;REN26667;REN26668;REN26669;REN26670;REN26671;REN26672;REN26673;REN26674;REN26675;REN26676;REN26677;REN26678;REN26679;REN26680;REN26681;REN26682;REN26683;REN26684;REN26685;REN26686;REN26687;REN26688;REN26689;REN26690;REN26691;REN26692;REN26693;REN26694;REN26695;REN26696;REN26697;REN26698;REN26699;REN26700;REN26701;REN26702;REN26703;REN26704;REN26705;REN26706;REN26707;REN26708;REN26709;REN26710;REN26711;REN26712;REN26713;REN26714;REN26715;REN26716;REN26717;REN26718;REN26719;REN26720;REN26721;REN26722;REN26723;REN26724;REN26725;REN26726;REN26727;REN26728;REN26729;REN26730;REN26731;REN26732;REN26733;REN26734;REN26735;REN26736;REN26737;REN26738;REN26739;REN26740;REN26741;REN26742;REN26743;REN26744;REN26745;REN26746;REN26747;REN26748;REN26749;REN26750;REN26751;REN26752;REN26753;REN26754;REN26755;REN26756;REN26757;REN26758;REN26759;REN26760;REN26761;REN26762;REN26763;REN26764;REN26765;REN26766;REN26767;REN26768;REN26769;REN26770;REN26771;REN26772;REN26773;REN26774;REN26775;REN26776;REN26777;REN26778;REN26779;REN26780;REN26781;REN26782;REN26783;REN26784;REN26785;REN26786;REN26787;REN26788;REN26789;REN26790;REN26791;REN26792;REN26793;REN26794;REN26795;REN26796;REN26797;REN26798;REN26799;REN26800;REN26801;REN26802;REN26803;REN26804;REN26805;REN26806;REN26807;REN26808;REN26809;REN26810;REN26811;REN26812;REN26813;REN26814;REN26815;REN26816;REN26817;REN26818;REN26819;REN26820;REN26821;REN26822;REN26823;REN26824;REN26825;REN26826;REN26827;REN26828;RH68929;SHGC-145073;SHGC-149563;SHGC-31432;SHGC-78909;stSG619671;stSG619672;stSG619673;stSG619674;stSG619676;stSG619677;stSG619678;stSG619679;stSG619680;stSG619681;stSG619682;stSG619683;stSG619684;stSG619686;stSG619687;stSG619689;stSG619690;stSG619691;stSG619692;stSG619693;stSG619694;stSG619695;stSG619696;stSG619697;stSG619698;stSG619699;stSG619700;stSG619701;stSG619702;stSG619703;stSG619704;stSG619705;stSG619706;stSG619707;stSG619708;stSG619709;stSG619710;stSG619711;stSG619712;stSG619713;stSG619714;stSG619715;stSG619716;stSG619717;stSG619718;stSG619719;stSG619720;stSG619721;stSG619722;stSG619723;stSG619724;stSG619725;stSG619726;stSG619727;stSG619729;stSG619730;stSG619731;stSG619732;stSG619733;stSG619734;stSG619735;stSG619736;stSG619737;stSG619738;stSG619739;stSG619740;stSG619741;stSG619742;stSG619743;stSG619744;stSG619745;stSG619747;stSG619748;stSG619749;stSG619750;stSG619751;stSG619752;stSG619753;stSG619754;stSG619755;stSG619756;stSG619757;stSG619758;stSG619759;stSG619762;stSG619763;stSG619764;stSG619765;stSG619766;stSG619767;stSG619768;stSG619769;stSG619770;stSG619771;stSG619772;stSG619773;stSG619774;stSG619775;stSG619776;stSG619777;stSG619778;stSG619779;stSG619780;stSG619781;stSG619783 HMIT;MGC48624 H(+)-myo-inositol symporter;OTTHUMP00000066086;h(+)-myo-inositol cotransporter;proton (H+) myo-inositol symporter;proton myo-inositol cotransporter protein-coding ENSG00000151229 15956 15363 611036 VALIDATED 1344587 SLC2A7 solute carrier family 2 (facilitated glucose transporter), member 7 SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008] 1 1 1 p36.2 8172056 8195080 - 8985946 9008991 - 9063359 9086404 - 6480464 16186102;15033637;11780753 155184 Q6PXP3 ABBA01035533;AL158048;AMYH01000230;AMYH01000231;AY571960;CH471130;NM_207420 AAI52831;AAS78590;EAW71607;EAW71608;NP_997303;Q6PXP3 Hs.531239 1732828 D1S1273 GLUT7 GLUT-7;OTTHUMP00000159095;glucose transporter type 7;intestinal facilitative glucose transporter 7;solute carrier family 2, facilitated glucose transporter member 7 APPROVED protein-coding ENSG00000197241 13445 15365 610371 PROVISIONAL 1347307 SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM, Mar 2008] 12 12 12 p13.31 9544472 9594140 - 7857664 7916762 - 7966397 8025495 - 1580863;6480464 18029348;15489334;12504846;12477932;11882521;22939629;21139048;21963094;22421804 144195 B7Z844;B7ZAC3;F5GXP7;F5GXP8;F5GXT4;F5H076;F5H3J0;F5H565;F5H5Q3;F5H5V7;F5H6F6;F5H7N2;Q8TDB8 ABBA01012211;ABBA01012212;ABBA01012213;ABBA01012214;ABBA01012215;ABBA01012216;ABBA01012217;ABBA01012218;ABBA01012219;AC006517;AC124891;AF481878;AF481879;AK122783;AK126026;AK299037;AK302881;AK316238;AL110298;AL832448;AMYH01004219;AMYH01004220;AY357941;BC060766;CH471116;NM_153449 AAH60766;AAL89709;AAL89710;AAQ63763;BAG53727;BAG54279;BAH12934;BAH13830;BAH14609;CAB53739;EAW88652;EAW88653;NP_703150;Q8TDB8 Hs.655169 1338493;1658350;1772960;1784446;2114211;2123588;5016967;5122173 G10588;RH65076;RH68461;RH78158;SHGC-154853;SHGC-30912;SHGC-31620;WI-20968 DKFZp564K1672;GLUT14;SLC2A3P3 GLUT-14;OTTHUMP00000238843;OTTHUMP00000238844;OTTHUMP00000238878;OTTHUMP00000238879;OTTHUMP00000238881;OTTHUMP00000238882;glucose transporter 14;glucose transporter type 14;solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3;solute carrier family 2, facilitated glucose transporter member 14 APPROVED protein-coding ENSG00000173262 18301 11573 611039 PROVISIONAL 737055 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 12 12 p13.3 7963094 7980138 - 8071824 8088892 - 1580863;1626159;1625539;1642802;1642812;2313602;2313618;730192;2313619;2313620;2313601;2313617;6480464 15449578;15466941;11436180;7598707;19110659;12882795;11738800;10086067;8179300;19781384;17935675 1695905;18029348;19554504;19261894;18802725;18764953;18401196;18299470;18172662;17920708;17611657;17559076;17442736;16303743;16136514;16125330;16049004;15489334;14757434;12583599;12554125;12477932;12397394;12112827;12064911;11991658;9477959;9253355;7502272;3170580;1417839;20599725;16169070;19536037;19659459;19681047;19782666;19786962;20308990;20424473;20468064;8457197;20428049;20870738;22876317;22000473;22234467;22265971;21963094;22901689;23341039;21890473;21987572;21920790;22069254;22113212;19322201;22270867;22645302;22901702;22663547;22706202 6515 F5GYR5;F5GYX0;P11169 AB209607;ABBA01012224;ABBA01012225;ABBA01012226;AC007536;AF274892;AK074861;AK298673;AK304509;AK312386;AMYH01004222;AY034634;BC039196;CH471116;CR457413;HC007280;HC890017;HC901942;M20681;NM_006931 AAB61083;AAF82116;AAH39196;AAK56796;ABM82044;ABM85223;ABM85225;BAD92844;BAG35303;BAH12843;BAH14202;CAG33694;CBH19445;CBN59498;CBN65429;EAW88644;EAW88645;NP_008862;P11169 Hs.419240 1647062;1658350;1675451;1772960;1796834;2123588;2168063;5014051;5016967;5037552;5106206;5122173 D8S2278;D8S2279;RH48707;RH65076;RH68326;RH68461;RH69095;RH78158;RH80536;SHGC-30912;SHGC-31620;SLC2A3_843 FLJ90380;GLUT3 GLUT-3;OTTHUMP00000165065;glucose transporter type 3, brain;solute carrier family 2, facilitated glucose transporter member 3;solute carrier family 2, member 2 protein-coding ENSG00000059804 11007 00686 138170 VALIDATED 1352870 SLC2AXP1 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 2 2 q11.1 90213289 90214178 - 95862243 95863132 - 11882521 399496 ABBA01003571;AC026626;AC092835;AMYH01010684;NG_011411 pseudo 31077 INFERRED 731478 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008] 17 17 p13 7125778 7132091 + 7185054 7191367 + 1625188;1580863;1626159;1625539;2313624;2302393;2306268;2302395;2302397;2313621;2313622;2313625;2303167;6480464;6484113;6907045;7240710 1918382;15449578;15466941;18778861;17717074;8013658;17629673;18570632;19252289;19043358;18653321;2211693 15334390;21454505;2649253;11842083;14562105;11742412;19554504;19375584;19321702;19286271;19251038;19219452;19188436;19035854;18769028;18676680;18660489;18635880;18299470;18249389;18184930;18067156;18056982;17611657;17496362;17448565;17382906;17220298;17164432;17035674;16966355;16803853;16787385;16763099;16497805;16497797;16396496;16213228;16096283;15864539;15731326;15528266;15489334;15480742;15184360;15182197;15166000;14747278;14630949;12716734;12716391;12700047;12631717;12606502;12583599;12565902;12477932;12467732;12145475;12079888;12064911;11994746;11500317;11217863;11003568;10606624;10068455;9388492;8300557;7916714;2656669;2568955;1756912;1601840;1521731;1397719;10655495;15292352;15247266;15992544;22496345;22403297;19913121;20625434;20628086;16647043;17003346;18713752;19170196;19328476;19389739;19478182;19549745;19590752;19625176;19648108;19692168;19885647;19948975;19955252;20103707;20173759;20363751;20406953;20417083;20965718;20501875;20352120;22488520;21147915;12556481;21547502;21187969;21454690;21454697;21468601;22673408;22992739;22114711;21668369;21796809;21757715;20854370;21986508;22286219;22384078;21883150;22297303;22452979;21645024;23239154;23424197;22971162;23202124;23546602;21606541;22663547 6517 F5H081;I3L1S2;I3L2R4;P14672;Q05BQ3 ABBA01054857;AC003688;AK300899;AK313372;AL521328;AMYH01008075;BC034387;BC069615;BC069621;BC113592;BC126164;BQ775137;CF594356;CH471108;M20747;M91463;NG_012127;NM_001042;X58489 AAA52569;AAA59189;AAH34387;AAH69615;AAH69621;AAI13593;AAI26165;ADR83021;BAG36171;BAG62537;CAA41399;EAW90226;EAW90227;NP_001033;P14672 Hs.380691 1657358;1683675;1741193;1741269;1798198 GDB:178568;GDB:180271;RH69198;RH76256;SLC2A4_1783 GLUT4 GLUT-4;OTTHUMP00000128376;glucose transporter type 4, insulin-responsive;insulin-responsive glucose transporter type 4;solute carrier family 2 , member 4;solute carrier family 2, facilitated glucose transporter member 4 APPROVED protein-coding ENSG00000181856 11009 00688 125853;138190 REVIEWED 68456 SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 1 1 p36.2 9019594 9052257 - 9097005 9129887 - 1580863;6480464 1634504;1695905;19091748;18439419;18424253;17577579;17251278;16803853;15489334;14757434;12820898;12554125;12477932;11840567;11247674;9691177;8037665;1550217;19913121;20628086;20043883;20379614;20965718;21165569;23084044;21938742;21988832;23341889 6518 B4DT82;B4DU31;K7EIT1;K7EJR1;K7EJZ0;K7EQI3;P22732 ABBA01035533;ABBA01035534;ABBA01035535;AF451839;AF479408;AK289849;AK290398;AK294368;AK295785;AK300091;AK300477;AK302047;AK302057;AK302137;AL158048;AMYH01000231;AMYH01000232;AMYH01000233;AMYH01000234;BC001692;BC001820;BC035878;CA309754;CH471130;DC379829;M55531;NM_001135585;NM_003039;U05344;U11843 AAA52570;AAB60641;AAH01692;AAH01820;AAH35878;AAL87107;ABM83217;ABM86417;BAF82538;BAF83087;BAG57630;BAG58606;BAG61894;BAG62193;BAG63439;BAG63447;BAG63511;EAW71610;NP_001129057;NP_003030;P22732 Hs.530003 1673401;1678759;1712068;1732798;2121847;2121960;2124535;2127261;2151487;7184424 D1S1254;D1S274E;G54082;RH64477;RH69141;RH70560;RH80220;SHGC-74165;SHGC-74178 GLUT-5;GLUT5 GLUT-5;OTTHUMP00000001704;OTTHUMP00000001705;fructose transporter;glucose transporter type 5, small intestine;glucose transporter-like protein 5;solute carrier family 2 (facilitated glucose transporter), member 5;solute carrier family 2, facilitated glucose transporter member 5;solute carrier family 2, member 5 protein-coding 11010 00690 138230 VALIDATED 1343076 SLC2A4RG SLC2A4 regulator The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 59055481 59059673 + 61841655 61845847 + 62371211 62375403 + 1580863;6480464 10825161;18249389;16368714;15489334;14630949;14625278;12477932;11780052;11752456;8889548;21102463;18216015;21297633;23128233 56731 Q2PHL5;Q9NR83 AB044777;AB044786;AB052777;ABBA01021419;AF249267;AK298304;AL121845;AMYH01012090;AMYH01012091;AV659783;BC001402;BC017446;BC028349;BC052306;BM983611;CH471077;NM_020062 AAF97516;AAH01402;AAH17446;AAH28349;AAH52306;BAD29732;BAD29733;BAE71373;BAG60558;EAW75210;EAW75211;EAW75212;NP_064446;Q9NR83 Hs.435126 1683411;1687716 RH71178;RH98655 GEF;HDBP-1;HDBP1;Si-1-2;Si-1-2-19 GLUT4 enhancer factor;HDBP-1;Huntington's disease gene regulatory region-binding protein 1;OTTHUMP00000031591;SLC2A4 regulator;huntington disease gene regulatory region-binding protein 1 APPROVED protein-coding 15930 15364 609493 REVIEWED 730862 SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8 This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012] 9 9 9 q33.3 100814105 100824801 + 129199286 129209988 + 130159465 130170161 + 70600;1580863;6480464 10671487 18029348;19554504;16723738;12554125;12477932;11845330;10821868;22452979;20965718;21890473;23319000;19176349 29988 H0Y7M6;Q5VVV3;Q5VVV4;Q5VVV5;Q5VVV6;Q5VVV9;Q5VVW0;Q5VVW5;Q8WZ05;Q9NY64 AB209112;ABBA01043832;AF289587;AI818661;AJ245937;AL445222;AMYH01021725;BC019043;BM044230;BX395379;CH471090;HC897950;HY025817;NM_001271711;NM_001271712;NM_014580;NR_073416;Y17801 AAH19043;AAL55771;ABM83835;ABM87159;BAD92349;CAB75702;CAB89809;CBN63384;EAW87660;EAW87661;EAW87662;EAW87663;EAW87664;NP_001258640;NP_001258641;NP_055395;Q9NY64 Hs.179522 1651776;1676117;1687604;2217992 A005N15;RH91499;RH94275;SLC2A8_3313 GLUT8;GLUTX1 GLUT-8;OTTHUMP00000022176;OTTHUMP00000022177;OTTHUMP00000022179;glucose transporter X1;glucose transporter type 8;glucose transporter type X1;solute carrier family 2, facilitated glucose transporter member 8 protein-coding ENSG00000136856 13812 05580 605245 REVIEWED 1319599 SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002] 9 9 9 q34 106886840 106894900 - 135326038 135334039 - 136336216 136344276 - 1580863;6480464 10970791;19554504;16303743;15489334;15164053;14702039;12554125;12477932;8125298;20413573;20734064;21139048 11182 F2Z2F6;F2Z3K7;Q9UGQ3 AB209108;ABBA01032457;AJ011372;AK074836;AK074927;AK096630;AK222919;AK225106;AK294974;AL593848;AMYH01021805;BC013740;CA306069;CH471090;CQ782786;CQ782893;DC305025;NM_001145099;NM_017585;Y17803 AAH13740;ABM82439;ABM85630;BAC11235;BAC11297;BAD92345;BAD96639;BAG58046;CAB66155;CAB96996;CAF86016;CAF86119;EAW88092;EAW88093;EAW88094;NP_001138571;NP_060055;Q9UGQ3 Hs.244378 5015619 D11S3114 GLUT6;GLUT9;HSA011372 GLUT-6;GLUT-9;OTTHUMP00000022489;OTTHUMP00000022490;glucose transporter type 6;glucose transporter type 9;solute carrier family 2, facilitated glucose transporter member 6 APPROVED protein-coding ENSG00000160326 11011 06010 606813 VALIDATED 731339 SLC30A1 solute carrier family 30 (zinc transporter), member 1 1 1 q32.3 209815004 209818722 - 211748381 211752099 - 1580863;6480464 12477932;18676680;18639746;18158319;17971500;17971132;17786585;16179263;15451416;14662799;21462106;15276077;17349999;18029348;19170196;19625176;19692168;19767393;19900532;20201890;19371353;21347282;20471814;22939629;21103883;22349685;18781797;21987572;21053094;21139048;21906983;21963094;22572848 7779 Q96KD7;Q9Y6M5 AA853540;AB451467;ABBA01048189;AC105275;AF048701;AF323590;AF364518;AI467909;AI621266;AMYH01001700;AW183618;BC121015;BC121016;BE744293;BF057194;CB990012;CF529684;CH471100;NM_021194 AAD29840;AAG53405;AAI21016;AAI21017;AAK50854;BAG70281;EAW93412;NP_067017;Q9Y6M5 Hs.744253 1697128;2191371;2217996 MARC_17913-17914:1025020546:1;RH102049;SLC30A1_3894 ZNT1;ZRC1 OTTHUMP00000035052;OTTHUMP00000042570;solute carrier family 30 member 1;zinc transporter 1;znT-1 protein-coding 11012 15366 609521 VALIDATED 1604615 SLC30A10 solute carrier family 30, member 10 This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012] 1 1 1 q41 193307088 193321437 - 218154229 218168616 - 220087606 220101993 - 6480464 15154973;14702039;12477932;19064571;22341971;22341972;22706290;22934317 55532 B3KR19;Q6XR72 ABBA01048087;ABBA01048088;AC093562;AK090806;AL359609;AMYH01001740;AMYH01001741;AY212919;BC036078;BG564297;CB999545;CH471100;NG_032153;NM_018713;NR_046437 AAH36078;AAI46292;AAP44332;BAG52231;CAB94880;EAW93312;EAW93313;EAW93314;NP_061183;Q6XR72 Hs.284450 2122860;2127949;2135445;2155715 AL010044;D1S1880E;RH11881;SHGC-76385 DKFZp547M236;HMDPC;ZNT10;ZNT8;ZRC1;ZnT-10 OTTHUMP00000216728;solute carrier family 30 (zinc transporter), member 10;zinc transporter 10;zinc transporter 8 APPROVED protein-coding 25355 15367 611146;613280 REVIEWED 1351405 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 p16.1 9436946 9650970 - 9827848 10041872 - 1580863;6480464;7240710 18398472;18327257;18327256;18179892;18177733;18172662;17997608;17710649;15489334;14739288;14702039;12554125;12477932;11991658;11739520;10970791;10860667;19026395;18842065;18834626;18759275;18701466;18606621;18487473;22797727;22527535;22393348;20472486;20589538;20714133;19797240;19260141;19503597;19593129;19679263;19723617;19808778;19833602;19877038;19890391;19926891;20053405;20162742;20162743;20162744;20162745;20379614;20413573;22212408;20197412;15203218;20800603;20884846;20972595;20926839;20588307;21294900;21256783;21536615;21584282;22132990;22420403;21658257;22132964;21186168;21511506;21886157;22005930;22229870;21810765;23272134;23263486;22753387;23302780;23703922;22647630 56606 D6REK5;Q9NRM0 ABBA01032505;ABBA01032506;ABBA01032507;ABBA01032508;ABBA01032509;ABBA01032510;ABBA01032511;AC005674;AC098976;AC108199;AF210317;AF421859;AK096819;AK310895;AL572022;AMYH01013993;AMYH01013994;BC018897;BC110414;BI821650;CD629819;CD629822;CH471069;NG_011540;NM_001001290;NM_020041 AAF85942;AAH18897;AAI10415;AAL16939;AAY41052;ABM82868;ABM86055;EAW92681;EAW92682;EAW92683;NP_001001290;NP_064425;Q9NRM0 Hs.656895 1647561;1666312;1672402;1765271;1765273;1769030;1769563;1777270;1785044;1850973;2110229;2110231;2117589;2133589;2133654;2147266;2147825;2148987;2158309;2178360;2189073;2189075;2189077;2189117;2189233;2217994 D4S1251;D4S1268;D4S1365;D4S317;D4S615;D4S634;G33346;G41975;G65145;G65164;G65185;G65186;G65187;L18084;RH36271;SHGC-148773;SHGC-148774;SHGC-154066;SHGC-25155;SHGC-50921;SHGC-51391;SHGC-51591;SHGC-59716;SLC2A9_2838;stb751l19.p1;stbA448G15.ca2 GLUT9;GLUTX;UAQTL2;URATv1 GLUT-9;OTTHUMP00000115632;OTTHUMP00000115633;glucose transporter type 9;human glucose transporter-like protein-9;solute carrier family 2, facilitated glucose transporter member 9;urate voltage-driven efflux transporter 1 APPROVED protein-coding ENSG00000109667 13446 05848 606142;612076 REVIEWED 1346114 SLC30A3 solute carrier family 30 (zinc transporter), member 3 2 2 2 p23.3 27323767 27332284 - 27330944 27339464 - 27477440 27485960 - 1580863;6480464 8962159;18639746;17971500;15154973;14662799;14657250;12477932;17349999;19521526 7781 C9J1K4;C9JHX4;C9JHZ9;C9JM13;C9JV68;F5H3B7;H7BZ83;Q99726 ABBA01045199;AC013413;AK127096;AK127300;AK302174;AK313600;AL043136;AMYH01010195;BC028358;CH471053;NM_003459;U76010 AAB39732;AAH28358;AAY24294;ABM83041;ABM86236;BAG36366;BAG63540;EAX00610;EAX00611;NP_003450;Q99726 Hs.467981 1697922;2107601;2134409 RH102490;SLC30A3_7909;STS-U76010 ZNT3 OTTHUMP00000158510;OTTHUMP00000201041;solute carrier family 30 member 3;zinc transporter 3;zinc transporter ZnT-3;znT-3 protein-coding ENSG00000115194 11014 11924 602878 VALIDATED 1343503 SLC30A4 solute carrier family 30 (zinc transporter), member 4 Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008] 15 15 q21.1 43561968 43602294 - 45774676 45815002 - 1580863;2299948;2299950;6480464 12955079;18289514 22254085;9354792;19058789;18676680;18639746;17971500;16580781;15187159;14968438;12743795;12477932;11988082;11935329;11686514;11511923;10600821;19371353;17349999;17575980;19625176;19692168;23368743;23149075;22632162 7782 O14863;Q96JT7 AA485220;ABBA01039179;ABBA01039180;ABBA01039181;ABBA01039182;AC025580;AF025409;AK290874;AMYH01006620;AY029482;BC026089;CH471082;NM_013309 AAB82561;AAH26089;AAK40257;ABM83047;ABW03348;BAF83563;EAW77316;EAW77317;NP_037441;O14863 Hs.162989 1705258 SHGC-78120 ZNT4 OTTHUMP00000162136;solute carrier family 30 member 4;zinc transporter 4;znT-4 APPROVED protein-coding 11015 03651 602095 VALIDATED 733874 SLC30A2 solute carrier family 30 (zinc transporter), member 2 1 1 1 p35.3 24761192 24769282 - 26237101 26245191 - 26364514 26372604 - 1580863;6480464 17971500;17349999;17065149;14702039;12477932;8617223;19064571;19170196;19496757;21462106;22733820;22364884 7780 B3KSN7;Q9BRI3 ABBA01034895;AF370409;AK023491;AK023504;AK094027;AL391650;AMYH01000394;BC006251;BF509598;CH471059;NM_001004434;NM_032513 AAH06251;AAQ15245;ADZ15896;BAG52799;EAX07849;EAX07850;NP_001004434;NP_115902;Q9BRI3 Hs.143545 2107599;2134054;5015961;5022576;5022578 D15S1477;D1S1361;D1S1423;SLC30A2_7908;WI-17216 FLJ36708;MGC11303;PP12488;TNZD;ZNT2;ZnT-2 OTTHUMP00000008699;OTTHUMP00000035104;solute carrier family 30 member 2;zinc transporter 2 protein-coding ENSG00000158014 11013 18057 608118;609617 VALIDATED 1351746 SLC31A1P1 solute carrier family 31 (copper transporter), member 1 pseudogene 1 3 3 3 q26.31 170715745 170720542 - 172320217 172321904 - 172317176 172321973 - 11054564 117151 ABBA01058646;AC007919;AF238997;AMYH01013652;NG_009573 1336339;1686294 D9S262;RH65620 CTR1P;CTR1psi;SLC31A1P APPROVED pseudo 17124 INFERRED 1319489 SLC30A6 solute carrier family 30 (zinc transporter), member 6 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A6, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008] 2 2 2 p22.3 32235752 32294001 + 32244437 32300313 + 32390910 32449181 + 1580863;6480464 18639746;17971500;16580781;15154973;14702039;12477932;11997387;17349999;19064571;19759014;20877624;19371353;21890473;21906983;22349685 55676 B3KU87;B5MCR8;C9JZR9;F8WCU3;F8WD78;F8WEL5;Q6NXT4 ABBA01074877;ABBA01074878;ABBA01074879;ABBA01074880;ABBA01074881;AF173387;AI401266;AK055663;AK096672;AK127716;AK304225;AL121653;AL121658;AL832755;AMYH01010229;BC032525;BC066903;BG527678;CH471053;DB469378;EF560719;EF560726;NM_001193513;NM_001193514;NM_001193515;NM_017964 AAH32525;AAH66903;AAQ13628;ABQ59029;ABQ59036;ACT64359;ACT64360;ACT64513;ACT64514;BAB70980;BAG53349;BAG54557;BAH14137;EAX00456;EAX00457;EAX00458;EAX00459;EAX00460;NP_001180442;NP_001180443;NP_001180444;NP_060434;Q6NXT4 Hs.23248 1645103;1767761;2148020;2155878;2162581;2217998;5022578;5037552;5092834 A004A17;Cda15g09;D1S1423;D2S2661;D8S2279;G32359;RH65977;SLC30A6_3650;WI-16901 FLJ31101;MGC45055;MST103;MSTP103;ZNT6 OTTHUMP00000158572;OTTHUMP00000201174;OTTHUMP00000201177;OTTHUMP00000201178;solute carrier family 30 member 6;zinc transporter 6;znT-6 APPROVED protein-coding ENSG00000152683 19305 15368 611148 VALIDATED 1315825 SLC30A5 solute carrier family 30 (zinc transporter), member 5 This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011] 5 5 5 q12.1 65389051 65425100 + 68425574 68461636 + 68389776 68426899 + 1580628;6480464 12095919 11937503;10330022;18639746;17971500;15276077;14702039;12975309;12477932;11904301;20689807;17349999;19064571;19759014;16344560;21887337;22939629;18029348;19322201;21906983;22529353;22505724 64924 D6REM2;H0Y957;H0YAH4;Q8TAD4 ABBA01048288;ABBA01048289;ABBA01048290;AC010273;AF212235;AF461760;AK022558;AK022818;AK292925;AL833716;AMYH01015144;AY089991;AY358505;BC000808;BC003411;BC008198;BC017441;BC130452;BC130454;BC144349;BX537394;CH471137;DB090660;DB259372;JF802034;NG_030415;NM_001251969;NM_022902;NM_024055 AAH00808;AAH03411;AAH08198;AAH17441;AAI30453;AAI30455;AAI44350;AAI48651;AAI53203;AAK14921;AAL96437;AAM09099;AAQ88869;ACE86679;ACE87364;AEG25670;BAB14098;BAB14258;BAF85614;CAD97636;EAW51307;EAW51308;EAW51309;EAW51310;NP_001238898;NP_075053;NP_076960;Q8TAD4 Hs.631975 1674771;1689290;2108481;2120113;5014019;5037552 D5S2354;D8S2279;RH45168;RH93799;SLC30A5_8088;STS-R73498 FLJ12496;FLJ12756;MGC5499;ZNT5;ZNTL1;ZTL1;ZnT-5 OTTHUMP00000161922;OTTHUMP00000221929;OTTHUMP00000223027;ZnT5 variant B;hZTL1;solute carrier family 30 member 5;zinc transporter 5;zinc transporter ZTL1;znT-like transporter 1 APPROVED protein-coding ENSG00000145740 19089 06381 607819 REVIEWED 1317319 SLC30A7 solute carrier family 30 (zinc transporter), member 7 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008] 1 1 1 p21.2 99623317 99709033 + 101134266 101217596 + 101361632 101447311 + 1580863;6480464 17353931;18639746;17971500;16381901;16344560;15489336;15276077;15154973;14702039;12477932;12446736;11256614;11230166;11076863;17349999;18029348;19064571;21462106;21987572;21833088;21139048;21890473;19322201;22190034 148867 H0Y362;Q8NEW0 ABBA01045434;AC104506;AF233345;AF529197;AK023089;AK313638;AL732465;AMYH01000826;AY094606;BC064692;BX537375;BX640630;BX648884;CH471097;CR936806;DA997188;NM_001144884;NM_133496 AAH64692;AAL83716;AAM21969;AAO17324;BAG36396;CAD97617;CAL37805;EAW72942;EAW72943;NP_001138356;NP_598003;Q8NEW0 Hs.533903 1338436;1645716;1669153;1768089;2114596;2120502;2142417;2145227;2174663;2176374 D1S1154;D1S299E;RH64505;RH70028;SHGC-75215;SHGC-75231;SHGC-75235;SHGC-75236;STS-M78355;WI-17896 DKFZp686M0368;ZNT7;ZnT-7;ZnTL2 OTTHUMP00000013590;OTTHUMP00000013591;solute carrier family 30 member 7;zinc transporter 7;zinc transporter ZnT-7;zinc transporter like 2;znt-like transporter 2 APPROVED protein-coding ENSG00000162695 19306 15369 611149 VALIDATED 1315097 SLC30A9 solute carrier family 30 (zinc transporter), member 9 4 4 4 p13 42436367 42535251 + 41687280 41784308 + 41992523 42089551 + 1580863;6480464 15988012;17349999;19064571;10409434;17971500;12477932;11906820;8125298;22939629;19322201;21139048 10463 D6R9M6;Q6PML9 AA427879;ABBA01014278;ABBA01014279;ABBA01014280;ABBA01014281;AC106052;AC113151;AF006621;AK225470;AK299917;AK312838;AMYH01014133;AMYH01014134;AY319413;AY594282;BC000240;BC007732;BC016949;BC022981;BG323207;CH471069;NM_006345 AAB87763;AAH07732;AAH16949;AAH22981;AAP83846;AAT02479;AAY40966;BAG35692;BAG61754;EAW92996;EAW92997;EAW92998;EAW92999;NP_006336;Q6PML9 Hs.479634 1659124;1661029;1674902;1722401;1744333;1850903;1852233;2145718;5093124 A009G43;D4S2797;G32534;G60273;GDB:451712;SHGC-68054;SHGC4-259;STS-AA016310;WI-21988 C4orf1;GAC63;HUEL;ZNT9 GRIP1-dependent nuclear receptor coactivator;OTTHUMP00000125233;expressed in human embryonic lung;human embryonic lung protein;solute carrier family 30 member 9;zinc transporter 9;znT-9 protein-coding ENSG00000014824 1329 06858 604604 VALIDATED 1317968 SLC30A8 solute carrier family 30 (zinc transporter), member 8 The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] 8 8 q24.11 118216518 118258134 + 117962512 118188953 + 1580863;6480464;7240710 15331542;16984975;19502414;19380854;19336475;19324937;19323954;19279076;19258437;19258404;19247372;19228808;19225753;19172244;19120307;19120306;19108828;19096518;19082521;19056611;19033397;19020324;19020323;19008344;19002430;18991055;18984664;18850084;18719881;18694974;18633108;18628523;18618095;18598350;18591388;18591387;18548167;18544707;18516622;18498634;18477659;18469204;18461161;18443202;18437351;18426861;18400535;18324385;18264689;18252897;18212765;22424623;22487833;18210030;18162509;18162508;17971500;17971426;17942684;17928989;17804762;17786204;17657472;17463249;17463248;17463246;17460697;17293876;16381901;16158222;15489336;15489334;15154973;12477932;11230166;11076863;22446173;22526605;22526607;22582094;22653633;21073664;20550665;20571754;20580033;20616309;20802253;20809084;22693455;20581827;20703447;19064571;19401414;19479076;19542200;19590848;19592620;19602701;19622614;19655390;19720844;19734900;19741166;19741467;19794065;19808892;19808923;19862325;19892838;19933996;20035758;20075150;20081858;20167458;20185807;20203524;20215779;20384434;20424228;20490451;20509872;20091020;20873210;20138556;20610599;20712903;20816152;20836749;20879858;20889853;20929593;21036910;22443257;22686132;22923468;21099294;21103350;21131091;22447136;21244337;22787139;21792090;21510814;21604969;21798992;23396399;22778022;22046415;22529353;22581228;21779873;21814517;21873549;22586580;23251661;23390544 169026 E5RG87;Q8IWU4 ABBA01037793;ABBA01037794;ABBA01037795;ABBA01037796;AC027419;AC084114;AC087350;AC104391;AK298294;AL713790;AMYH01018983;AY117411;BC015845;BC126446;BC143953;BQ631692;BU949895;CH471060;EF560713;HI380463;NG_016991;NM_001172811;NM_001172813;NM_001172814;NM_001172815;NM_173851 AAM80562;ABQ59023;BAG60552;CAD28545;CAL37399;CAL38185;CBX55804;EAW91968;NP_001166282;NP_001166284;NP_001166285;NP_001166286;NP_776250;Q8IWU4 Hs.532270 1669684;1734092;1763365;1786700 D8S1201;D8S1673;SHGC-147089;SHGC-154540 ZNT8;ZnT-8 OTTHUMP00000228049;OTTHUMP00000228051;OTTHUMP00000228052;zinc transporter 8;zinc transporter ZnT-8 APPROVED protein-coding ENSG00000164756 20303 15370 125853;611145 REVIEWED 1317461 SLC31A2 solute carrier family 31 (copper transporter), member 2 9 9 9 q32 86561147 86574330 + 114953059 114966243 + 115913238 115926422 + 1580863;6480464 9207117;17944601;17617060;15489334;15342556;12477932;14722252;19509135;21103663;23284715;23564780 1318 F2Z3D2;O15432;Q53X94 ABBA01042691;AK057903;AK131071;AK131546;AK295544;AL449105;AMYH01021669;BC026252;BP341248;CH471090;CN480022;CR407615;NM_001860;U83461 AAB66307;AAH26252;ABM82295;ABM85475;BAG58452;CAG28543;EAW87355;NP_001851;O15432 Hs.24030 1665016;1674089;1757771;1758411;1771011;2154231;2174568;2174570;2218000 A006C39;G20709;SHGC-146491;SHGC-148266;SLC31A2_3954;STS-N35585;WI-11879;WI-17544;WI-22404 COPT2;CTR2;hCTR2 OTTHUMP00000022792;copper transporter 2;probable low affinity copper uptake protein 2;solute carrier family 31 member 2 APPROVED protein-coding ENSG00000136867 11017 04365 603088 VALIDATED 735683 SLC31A1 solute carrier family 31 (copper transporter), member 1 The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011] 9 9 q32 115023689 115066593 + 115983808 116026772 + 1580863;6480464 9207117;19240214;19147760;19144690;17959139;22552365;17627945;16501047;16356544;15634665;15489334;15326162;14976198;14702039;12501239;12477932;12466020;12177073;12034741;12023893;11983704;11734551;11054564;8125298;20534491;20569931;20699218;19529937;19669174;19684018;19740744;19856191;19929093;21072377;22725681;23010323;22068728;22569840;22684009;22354499;23303382;23426973;21602128;22516052;22962276 1317 O15431;Q5T1M3 ABBA01042690;ABBA01042691;AK056926;AK129613;AK222866;AK292511;AL449305;AL831843;AMYH01021669;BC004315;BC013611;BC061924;CH471090;NM_001859;U83460 AAB66306;AAH04315;AAH13611;AAH61924;ABM82379;ABM85558;BAD96586;BAF85200;CAD38549;EAW87357;EAW87358;EAW87359;NP_001850;O15431 Hs.532315 1336339;1682307;1686294;1700186;2168933;5015619;5022578;5037552 D11S3114;D1S1423;D8S2279;D9S262;RH103708;RH12245;RH46393;RH65620 COPT1;CTR1;MGC75487;hCTR1 OTTHUMP00000021950;OTTHUMP00000021951;copper transport 1 homolog;copper transporter 1;high affinity copper uptake protein 1;solute carrier family 31 member 1 APPROVED protein-coding ENSG00000136868 11016 04362 603085 REVIEWED 1346344 SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 34063870 34068780 + 36786519 36791429 + 37353105 37358015 + 6480464 17471287;15489334;14702039;12806177;12477932;12115694;11780052;9921901;9349821;19843525;19874574;12750892;21396926;22510271 140679 Q9H598 ABBA01052531;AF064848;AK055051;AK091079;AL133519;AMYH01011906;AY044836;BC036458;BC053582;BI488536;CH471077;NM_080552 AAH36458;AAH53582;AAK98782;BAB70846;BAG52280;EAW76012;NP_542119;Q9H598 Hs.179080 2131651;2184968 AL030975;WI-16167 VGAT;VIAAT GABA and glycine transporter;OTTHUMP00000030977;hVIAAT;solute carrier family 32 member 1;vesicular GABA transporter;vesicular inhibitory amino acid transporter APPROVED protein-coding ENSG00000101438 11018 18058 REVIEWED 733686 SLC34A1 solute carrier family 34 (type II sodium/phosphate contransporter), member 1 This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 5 5 q35 176744041 176758455 + 176811432 176825849 + 730120;1580863;2311304;6480464;7242923;7242924;7242925;7242927;7242930;7242933;7242935;7242936;7242938;7242939;7242940;7242942;7242943;7242944;7242947;7242948;7243005;7243007;7243096;7243098;7243099;7243100;7240710;7207819;7243131;7243122;7243134 8327470;15775707;20335586;19570882;16358215;22396660;15452708;11004225;21826734;21784483;12674325;19515808;18835926;19933269;19729856;19439519;19193726;18535837;18337544;9560283;15355967;20466874;20418498;20383146;21778753;10098486;18550648;17409279 9683733;8693007;16955105;16688119;16105044;15613617;15504898;15342556;14702039;14694264;14672348;14558883;12952859;12477932;12324554;11880379;11099500;9210418;8188224;22506049;20558539;8898024;9530108;17895247;21597970;22703881 6569 D6RCE5;Q06495;Q7Z725;Q86VN6 ABBA01033457;AC145098;AF058289;AI650347;AK096088;AK298299;AMYH01015874;BC034756;BC035294;BC050385;BC053349;BI759164;BP275443;CH471195;D89927;L13258;NG_016223;NM_001167579;NM_003052;U56684;U56692;U56694 AAA36354;AAD14856;AAD14864;AAD14866;AAH35294;AAH50385;AAH53349;BAC04699;BAG60555;EAW85007;EAW85008;EAW85009;EAW85010;NP_001161051;NP_003043;Q06495 Hs.936 1660140;2108483 RH17618;SLC34A1_7879 FRTS2;NAPI-3;NPHLOP1;NPT2;NPTIIa;SLC11;SLC17A2 Na(+)-dependent phosphate cotransporter 2A;Na(+)/Pi cotransporter 2A;Na+-phosphate cotransporter type II;OTTHUMP00000161450;OTTHUMP00000223822;naPi-2a;renal sodium-dependent phosphate transporter;sodium-dependent phosphate transport protein 2A;sodium-phosphate transport protein 2A;sodium/phosphate co-transporter;sodium/phosphate cotransporter 2A;solute carrier family 17 (sodium phosphate), member 2;solute carrier family 34 member 1;solute carrier family 34, member 1 APPROVED protein-coding ENSG00000131183 11019 08918 182309;612286;613388 REVIEWED 732825 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 3 q25.31 153965573 153993678 - 157028065 157054861 - 155544300 155572248 - 1580863;6480464;6907045;7240710 9096318;19061983;15489334;12739170;12477932;20306460;20461110;20826464;21890473;21906983;22243965;21963094;22787145;22797925 9197 H7C532;H7C562;H7C577;O00400 ABBA01058850;AC104472;AK312268;AMYH01013596;BC014416;CH471052;D88152;NG_023365;NM_001190992;NM_004733 AAH14416;ABM82633;ABM85811;BAA20072;BAG35199;EAW78743;EAW78744;NP_001177921;NP_004724;O00400 Hs.478031 1666636;1739049;1856187;2106621;2123271 D3S3246;G30389;SHGC-77470;SHGC-77475;SLC33A1_3924 ACATN;AT-1;AT1;CCHLND;SPG42 OTTHUMP00000212981;OTTHUMP00000212982;OTTHUMP00000212983;acetyl-CoA transporter 1;acetyl-coa transporter;acetyl-coenzyme A transporter 1;solute carrier family 33 member 1;spastic paraplegia 42 (autosomal dominant) APPROVED protein-coding ENSG00000169359 95 04734 603690;612539;614482 REVIEWED 1348656 SLC34A3 solute carrier family 34 (type II sodium/phosphate contransporter), member 3 This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010] 9 9 q34 139245206 139250827 + 140125209 140131006 + 1299524;1580863;6480464;7240710;7207819 11880379;21778753 16358214;18480181;17968493;16955105;16358215;15504899;14702039;12477932;14531806;19820004;22159077;22387237;22672866;22806288 142680 Q8N130 AB055000;ABBA01022751;ABBA01022752;AK095999;AL832449;AMYH01021896;BC029942;BX255925;NG_017008;NM_001177316;NM_001177317;NM_080877 AAI72399;BAB83242;BAC04667;NP_001170787;NP_001170788;NP_543153;Q8N130 Hs.432442 2106623 SLC34A3__3713 FLJ38680;HHRH;NPTIIc Na(+)-dependent phosphate cotransporter 2C;Na(+)/Pi cotransporter 2C;OTTHUMP00000162587;naPi-2c;sodium-dependent phosphate transport protein 2C;sodium-phosphate transport protein 2C;sodium/inorganic phosphate cotransporter IIC;type IIc Na+/Pi cotransporter APPROVED protein-coding ENSG00000198569 20305 10236 241530;609826 REVIEWED 733113 SLC34A2 solute carrier family 34 (type II sodium/phosphate contransporter), member 2 The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010] 4 4 p15.2 25266533 25289468 + 25657435 25680370 + 1580863;6480464;7240710;7207819 21778753 22336687;22553815;10329428;19119262;18724815;17095743;16960801;16344560;16303743;15458926;14702039;12477932;11880379;11171583;10610722;19134407;12488042;12893629;15970207;19617834;20017296;20046000;20457063;8889548;21036732;21716206;17091453;21956469;23164546 10568 D6RA94;D6RBC0;O95436 ABBA01032703;AC092436;AF111856;AF146796;AK075015;AK075045;AK075046;AK292675;AK314514;AMYH01014068;BC142704;BC146666;CA435368;CH471069;CN479082;DB201517;DB241180;NG_021185;NM_001177998;NM_001177999;NM_006424 AAC98695;AAF31328;AAI42705;AAI46667;BAC11354;BAF85364;EAW92842;NP_001171469;NP_001171470;NP_006415;O95436 Hs.479372 1849461;1850394;2108485;2121263;2151427 A001V25;D4S1384;G15986;SHGC-51145;SLC34A2_7976 FLJ90534;NAPI-3B;NAPI-IIb;NPTIIb OTTHUMP00000123386;OTTHUMP00000218055;OTTHUMP00000218056;sodium-dependent phosphate transport protein 2B;sodium/phosphate cotransporter 2B;solute carrier family 34 (sodium phosphate), member 2;type II sodium-dependent phosphate transporter 3b APPROVED protein-coding ENSG00000157765 11020 07251 265100;604217;610441 REVIEWED 1353471 SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 X X X p11.23-p11.22 52894294 52903071 + 48645403 48654179 - 48760459 48769235 - 1580863;6480464 9010752;16189514;14702039;12925779;12477932;11389099;11279205;9399569;8889805;8128316;8125298;18029348;21918738;23561849 7355 A6NFI1;A6NGW4;A6NKM8;B4DE11;C9JCV5;E7EW45;P78381 AB042425;ABBA01046079;ABBA01046080;ABBA01046081;AC233300;AF207550;AK090730;AK225508;AK290284;AK292816;AK293415;AK293419;AK298484;AK299748;AMYH01022290;BC035747;CH471224;CR450287;D84454;D88146;NM_001032289;NM_001042498;NM_005660 AAH35747;BAA12673;BAA13545;BAA95614;BAA95615;BAC03509;BAF82973;BAF85505;BAG56922;BAG56926;BAG60694;BAG61639;CAG29283;EAW50731;EAW50732;EAW50733;EAW50734;NP_001027460;NP_001035963;NP_005651;P78381 Hs.21899 1648967;1660281;1776797;2184301 RH78860;STS-H88980;STS-R01143;WI-13527 CDG2M;CDGX;UGALT;UGAT;UGT;UGT1;UGT2;UGTL OTTHUMP00000025813;OTTHUMP00000025814;OTTHUMP00000025815;OTTHUMP00000025816;OTTHUMP00000025817;OTTHUMP00000025818;OTTHUMP00000025819;UDP-Gal-Tr;UDP-galactose translocator;UDP-galactose transporter;solute carrier family 35 (UDP-galactose transporter), member 2;solute carrier family 35 member A2 protein-coding ENSG00000102100 11022 02441 300896;314375 PROVISIONAL 1348037 SLC35A4 solute carrier family 35, member A4 5 5 5 q31.3 136021170 136025433 + 139924604 139928867 + 139944420 139948683 + 1580863;6480464 12782588;12477932;17207965 113829 Q96G79 ABBA01026426;AC011399;AC116353;AF445025;AJ420598;AK122601;AK289378;AK307282;AL833972;AMYH01015659;BC009906;CH471062;NM_080670 AAH09906;AAL38586;ADQ32306;BAC85488;BAF82067;CAD38817;EAW62040;NP_542401;Q96G79 Hs.406840 1740499;1740519;1768546;1768548;2108487;2116091 D5S1647E;D5S2292E;D5S2307E;D5S2325;SLC35A4_8124;WI-12008 MGC2541 OTTHUMP00000159875;OTTHUMP00000223644;probable UDP-sugar transporter protein SLC35A4;solute carrier family 35 (UDP-galactose transporter), member A4;tumor rejection antigen protein-coding ENSG00000176087 20753 11574 PROVISIONAL 1318491 SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 1 1 1 p21 98691115 98744765 + 100208128 100261594 + 100435540 100489006 + 1580863;6480464 3099781;1736542;10393322;16691598;12477932;8093218;3264072;2829950;21906983;11752456;16344554;23089177 23443 C9JW63;E9PPQ9;Q9BSB7;Q9Y2D2 AB021981;ABBA01045446;ABBA01045447;AC118553;AK024989;AK290573;AMYH01000825;AV698459;BC005136;CH471097;CR749816;NM_001271684;NM_001271685;NM_012243 AAH05136;BAA77841;BAF83262;CAH18676;EAW72977;EAW72978;EAW72979;NP_001258613;NP_001258614;NP_036375;Q9Y2D2 Hs.448979;Hs.534953 1676658;1856991;1858216;2170093;5015861;5016478;5022200;5022450;5022463;5022578;5037552;7185938 AL009729;D10S16;D10S275;D1S1423;D3S1673;D8S2279;G31442;GDB:434012;L18426;RH93267;SHGC-75222 DKFZp781P1297 OTTHUMP00000012506;OTTHUMP00000012507;OTTHUMP00000012508;OTTHUMP00000012509;OTTHUMP00000231651;UDP-N-acetylglucosamine transporter;golgi UDP-GlcNAc transporter;solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3;solute carrier family 35 member A3 protein-coding ENSG00000117620 11023 10413 605632 REVIEWED 1322776 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 q15 88239414 88278766 + 88182643 88222057 + 1580863;6480464;7240710 9644260;16923816;16344560;16343442;15576474;15489334;14702039;14574404;12682060;12477932;9010752;8889548;8755516;8617505;8427599;964426;17207965;20301507;23251661 10559 B4DEM1;P78382;Q5W1L7 ABBA01040494;ABBA01040495;AJ810302;AJ810303;AJ851888;AJ851889;AJ851890;AK293696;AK299432;AL049697;AL122119;AMYH01016493;BC008372;BC017807;BG699364;CB242593;CH471051;D87969;DA210713;DB095595;NG_016207;NM_001168398;NM_006416 AAH17807;ADQ32146;BAA13522;BAG57132;BAG61410;CAH17780;CAH17781;CAH56397;CAH65468;CAH65469;CAH65470;EAW48599;NP_001161870;NP_006407;P78382 Hs.423163 1644810;1646193;2154927;2186123 RH12764;RH66170;SGC35202;STS-R72165 CDG2F;CMPST;CST;FLJ76955;hCST;inactive CMP-SA-Tr;CMP-Sia-Tr;CMP-sialic acid transporter;OTTHUMP00000016832;mutated CMP-sialic acid transporter A1;solute carrier family 35 (CMP-sialic acid transporter), member 1;solute carrier family 35 (UDP-galactose transporter), member 1;solute carrier family 35 member A1 APPROVED protein-coding ENSG00000164414 11021 09290 603585;605634 REVIEWED 1344135 SLC35A5 solute carrier family 35, member A5 3 3 3 q13.2 110689568 110711683 + 113763585 113785693 + 112280895 112303003 + 1580863;6480464 14702039;12975309;12477932;17207965;19850743 55032 C9J7U8;C9JXZ8;F8WDF8;H7BXF8;Q9BS91 AB075484;ABBA01061660;ABBA01061661;ABBA01061662;ABBA01061663;AC048334;AC092692;AK000737;AK001992;AK098839;AK172825;AK297411;AL117531;AMYH01013392;AY358994;BC005207;BC010307;BC013046;CH471052;DA854399;NM_017945 AAH05207;AAH10307;AAH13046;AAQ89353;ADQ32726;BAA91350;BAD18792;BAG59846;CAH10717;EAW79666;EAW79667;NP_060415;Q9BS91 Hs.237480 2108923 SLC35A5_8059 DKFZp434E102;FLJ11130;FLJ20730;FLJ25973 OTTHUMP00000214565;OTTHUMP00000214566;OTTHUMP00000214567;probable UDP-sugar transporter protein SLC35A5 protein-coding 20792 11575 VALIDATED 1351742 SLC35B1 solute carrier family 35, member B1 This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 17 17 17 q21.33 44233680 44240270 - 45133689 45140281 - 47778690 47785282 - 1580863;6480464 9010752;15489334;14702039;12477932;8617505;8076819;20800603;21832049;11337467;17113583;19270184;23506892 10237 D6R981;D6R9G9;D6RB73;D6RDY9;D6RE58;D6RF81;D6RG34;D6RHG0;J3KQV4;P78383 ABBA01041213;AC015795;AI252816;AK098056;AK293563;AK296073;AMYH01008470;AU099388;AU309730;BC011888;BM476321;BX641166;CH471109;CR745911;CX164572;D87989;DR980774;NM_001278784;NM_005827 AAH11888;ABM84351;ABW03613;BAA13525;BAG57035;BAG58831;CAE46073;EAW94665;EAW94666;EAW94667;EAW94668;EAW94669;EAW94670;NP_001265713;NP_005818;P78383 Hs.154073 1772820;2191797 A007B33;MARC_7913-7914:1010423980:1 UGTREL1 OTTHUMP00000220497;OTTHUMP00000220500;OTTHUMP00000220579;UDP-galactose transporter related;UDP-galactose transporter-related protein 1;hUGTrel1;solute carrier family 35 member B1 protein-coding 20798 10237 610790 REVIEWED 1349281 SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008] 6 6 6 p12.1-p11.2 45774983 45778432 - 44329821 44333250 - 44221838 44225283 - 1580863;6480464 12716889;12761501;17081983;16344560;16303743;15489334;14574404;12477932;8125298;19773279;20978009;21139048;21987572;23464991 347734 B4DDM2;F5H7Y9;Q8TB61 AB097021;AB097039;AB106538;ABBA01050642;AK075456;AK123749;AK223028;AK293251;AK293344;AK307572;AL139392;AMYH01016321;AY491520;BC016839;BC024288;CH471081;DA383304;NM_178148 AAH16839;AAH24288;AAS79661;ABM84240;ABM87627;ABM87631;ABW03805;BAC11631;BAC77374;BAC77392;BAC79117;BAD96748;BAG53951;BAG56783;BAG56860;EAX04261;NP_835361;Q8TB61 Hs.182885 1664633;1667810;1744327;1857463;2109851;2115371;2148319;2156602;2167183;2178384;2217666 A006I17;D6S1157E;GDB:451694;NFKBIE_3084;RH15775;RH36212;RH41920;RH65822;SHGC-32848;SLC35B2_8181;WI-21703 PAPST1;SLL;UGTrel4 3'-phosphoadenosine 5'-phosphosulfate transporter;OTTHUMP00000016513;OTTHUMP00000016514;PAPS transporter 1;adenosine 3'-phospho 5'-phosphosulfate transporter 1;putative MAPK-activating protein PM15;putative NF-kappa-B-activating protein 48;solute carrier family 35 member B2 variant 2 APPROVED protein-coding ENSG00000157593 16872 11576 610788 VALIDATED 1316221 SLC35B3 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 Sulfation of a variety of molecules, including glycoproteins, proteoglycans, and glycolipids, requires 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS), a high-energy form of the universal sulfate donor. SLC35B3 translocates PAPS from the cytosol or nucleus, where it is synthesized, to the Golgi lumen for use (Kamiyama et al., 2006 [PubMed 16492677]).[supplied by OMIM, Mar 2008] 6 6 6 p24.3 9642577 9665073 - 8358306 8380624 - 8413301 8435794 - 1580863;6480464 16793546;16492677;15489334;14574404;12477932;10810093;17207965;20978009;21211351 51000 B4E1Q6;Q9H1N7 AB231931;ABBA01022056;AF132953;AK303940;AK304250;AK313522;AL355815;AMYH01016067;BC006973;BX538271;BX641086;BX647208;BX648022;CH471087;DC357624;NM_001142540;NM_001142541;NM_015948 AAD27728;AAH06973;ADQ31774;BAE93015;BAG36302;BAG64868;BAG65117;CAD98078;CAE46041;EAW55233;EAW55234;EAW55235;EAW55236;EAW55237;EAW55238;EAW55239;EAW55240;NP_001136012;NP_001136013;NP_057032;Q9H1N7 Hs.285847 1697842;2108489;5014051;5014865;5015861;5022450;5022651;5024761;5115329;7185938 D10S16;D10S275;D11S2921;D12S1332;D8S2278;L18494;RH102447;RH36905;SLC35B3_8034 C6orf196;CGI-19;PAPST2 3' phosphoadenosine 5' phosphosulfate transporter 2;3'-phosphoadenosine 5'-phosphosulfate transporter;OTTHUMP00000016009;PAPS transporter 2;adenosine 3'-phospho 5'-phosphosulfate transporter 2 APPROVED protein-coding ENSG00000124786 21601 11577 610845 VALIDATED 1319077 SLC35B4 solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008] 7 7 7 q33 128711529 128739279 - 133624629 133652343 - 133974089 134001827 - 1580863;6480464 15911612;16965264;16344560;16341674;16303743;15489334;14702039;12690205;12477932;8125298;21507882;21918738 84912 F8WAW0;Q969S0 AACC02000025;AB052892;ABBA01001107;AC008154;AI274082;AI695174;AI948585;AJ315497;AJ315498;AJ971941;AK027603;AK027726;AK056475;AK075368;AK222874;AK307621;AMYH01017953;BC008413;BE894120;BI756619;BM458284;BM800938;BM806557;BQ082178;BX328982;BX646379;CH236950;CH471070;CS051163;DA208815;NM_032826 AAH08413;BAB55225;BAB55325;BAB61040;BAC11573;BAD96594;CAC84567;CAC84568;CAI72077;CAI98963;EAL24071;EAW83809;EAW83810;EAW83811;EAW83812;NP_116215;Q969S0 Hs.490181 2113712;2115784;2160392;2172093 AB060201;RH47519;RH47952;SGC32924 FLJ14697;YEA;YEA4 OTTHUMP00000207725;UDP-Xylose/N-Acetylglucosamine transporter;UDP-xylose and UDP-N-acetylglucosamine transporter;YEA4 homolog APPROVED protein-coding ENSG00000205060 20584 11578 610923 VALIDATED 1319900 SLC35D2 solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008] 9 9 9 q22.32 69524567 69587574 - 98122809 98185758 - 99082988 99145992 - 1580863;6480464 9927678;19276090;15607426;15082721;12759756;12477932;23144319 11046 Q5VZJ2;Q76EJ3 AB106537;AB122077;ABBA01043591;ABBA01043592;ABBA01043593;ABBA01043594;ABBA01043595;AJ005866;AK024841;AK307890;AL160269;AMYH01021543;BC009413;BC015146;BC100278;BC113579;CH471174;NM_007001 AAH09413;AAI00279;AAI13580;ADR83361;BAC99016;BAD14396;CAA06743;EAW92646;EAW92647;NP_008932;Q76EJ3 Hs.494556;Hs.731624 2108491 SLC35D2_7988 HFRC1;MGC117215;MGC142139;SQV7L;UGTrel8;hfrc OTTHUMP00000021719;SQV7-like protein;UDP-N-acetylglucosamine transporter;UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter;UDP-galactose transporter-related protein 8;fringe connection;homolog of Fringe connection protein 1 APPROVED protein-coding ENSG00000130958 20799 16456 609182 VALIDATED 5133162 SLC35E1P1 solute carrier family 35, member E1 pseudogene 1 13 13 q12.11 2243138 2328596 + 21181218 21266663 + 727991 ABBA01068586;ABBA01068587;ABBA01068588;ABBA01068589;AL161772;AMYH01004949;AMYH01004950;NG_007300 1667745;1723753;1748415;2108613;2113466;2114569;2176463 D13S1798;G64212;RH118612;RH65721;SHGC-57879;STS-U20362;TTC10_8779 FLJ14793 pseudo 42046 INFERRED 1319816 SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 11 11 11 p11.2 45973214 45982158 + 45783912 45791143 + 45825623 45834567 + 1599002;1580863;6480464;7240710 11326280 17884843;16455955;16344560;15489334;14702039;12477932;12406889;11326279;8125298;22589738;17207965;20301507;22134107;22492235 55343 B3KQH0;E9PPI4;E9PS26;Q96A29 ABBA01060759;AC044839;AF323970;AF326199;AK000527;AK002182;AK027394;AK027747;AK074929;AK091245;AK225428;AK315473;AL547030;AMYH01003530;BC001427;CH471064;CQ783756;DB287838;GM744699;NG_009875;NM_001145265;NM_001145266;NM_018389 AAH01427;AAK50397;AAK51705;ADQ32732;BAA92126;BAB55080;BAB55339;BAG37859;BAG52032;BAG52316;CAF86846;CAV31712;EAW68031;EAW68032;EAW68033;NP_001138737;NP_001138738;NP_060859;Q96A29 Hs.12211 1716623;2149469;2158387 RH11570;RH121568;RH64851 CDG2C;FLJ11320;FLJ14841;FUCT1 GDP-fucose transporter 1;OTTHUMP00000233118;OTTHUMP00000233119 APPROVED protein-coding ENSG00000181830 20197 09324 266265;605881 REVIEWED 1319766 SLC35D3 solute carrier family 35, member D3 6 6 6 q23.3 137983854 137987229 + 137285095 137288470 + 137243402 137246777 + 6480464 12477932 340146 Q5M8T2 ABBA01025823;AK295424;AK316095;AL365223;AMYH01016699;BC067217;BC087842;CH471051;NM_001008783 AAH67217;AAH87842;BAG58370;BAH14466;EAW47939;NP_001008783;Q5M8T2 Hs.369703 1697676;2218606 RH102353;SLC35D3_3740 FRCL1;MGC102873;bA55K22.3 OTTHUMP00000017279;frc, fringe-like 1;fringe connection-like protein 1;solute carrier family 35 member D3 protein-coding ENSG00000182747 15621 18059 612519 PROVISIONAL 1320404 SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009] 1 1 1 p32-p31 65754958 65810053 - 67242439 67292316 - 67465015 67520080 - 1580863;6480464;7240710 17952091;16710414;15489334;12477932;12107410;11322953;9039502;8889548;17482904;19508970;20379614;22412388;22505724 23169 B7Z3X2;Q9NTN3 AB044343;ABBA01074523;AK289800;AL133320;AL500525;AMYH01000688;BC093786;BC112031;BQ001392;BU619019;BU679620;CA391890;CH471059;D87449;NG_012933;NM_015139 AAH93786;AAI12032;BAA13390;BAB18586;BAF82489;EAX06504;NP_055954;Q9NTN3 Hs.213642 1643654;1662169;1671251;2116249;2132105;2151872 AL009972;D1S3135;D1S3287;G16198;G30944;RH46458 KIAA0260;MGC138236;UGTREL7 OTTHUMP00000010965;UDP-GlcA/UDP-GalNAc transporter;UDP-galactose transporter-related 7;UDP-galactose transporter-related protein 7;UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter;solute carrier family 35 member D1 APPROVED protein-coding ENSG00000116704 20800 15372 269250;610804 REVIEWED 1322607 SLC35C2 solute carrier family 35 (GDP-fucose transporter), member C2 This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] 20 20 20 q13.12 41689609 41704478 - 44411584 44426471 - 44978177 44993064 - 6480464 11247664;10810093;8125298;15489334;14702039;12477932;12461647;11934252;11856893;11780052;11549316;16341674;21987572;21890473;21906983;23000965;16344560;8889548 51006 F5H4T9;Q5JW02;Q5JW03;Q5JW04;Q9NQQ7 ABBA01052679;AF132949;AF455052;AK094358;AK128842;AK222928;AK300207;AK300798;AK301022;AK315726;AL133227;AMYH01011942;AW275152;BC014191;BC021138;BC025277;BI831689;BM666377;BM846744;CH471077;DA820126;DB023133;DB246755;NM_001281457;NM_001281458;NM_001281459;NM_001281460;NM_015945;NM_173073;NM_173179 AAD27724;AAH14191;AAH21138;AAH25277;AAL59605;ABM82820;ABM87836;BAD96648;BAH13238;BAH13350;BAH13392;EAW75747;EAW75748;EAW75749;EAW75750;EAW75751;EAW75752;EAW75753;NP_001268386;NP_001268387;NP_001268388;NP_001268389;NP_057029;NP_775096;NP_775271;Q9NQQ7 Hs.593344 1674456;1683741;2107603;2138940;2168165;5491635 A006N01;MARC_27498-27499:1034364070:5;RH18312;RH46558;RH92511;SLC35C2__6851 BA394O2.1;C20orf5;CGI-15;FLJ37039;FLJ46434;MGC20633;MGC32079;MGC39183;OVCOV1 OTTHUMP00000031690;OTTHUMP00000031691;OTTHUMP00000031692;OTTHUMP00000031694;OTTHUMP00000031696;ovarian cancer overexpressed 1;ovarian cancer-overexpressed gene 1 protein;solute carrier family 35 member C2 APPROVED protein-coding ENSG00000080189 17117 15371 REVIEWED 1352847 SLC35E3 solute carrier family 35, member E3 12 12 12 q15 68803409 68823329 + 67426203 67446120 + 69139936 69159853 + 6480464 12975309;12477932;17207965 55508 H0Y691;Q7Z769 AA491309;ABBA01026552;AC124890;AF148713;AK289645;AMYH01004562;AY358943;BC008412;BC021103;BC030504;BC049192;BE540822;BF971234;CH471054;NM_018656;W00476 AAF73127;AAH08412;AAH21103;AAH30504;AAH49192;AAQ89302;ADQ32991;BAF82334;EAW97196;EAW97197;EAW97198;NP_061126;Q7Z769 Hs.506011 1700612;2123834;2128068;5015961;5020948;5022651 D11S2921;D15S1477;G31524;G35510;RH103928;RH69332 BLOV1 OTTHUMP00000240637;bladder cancer overexpressed protein;bladder cancer-overexpressed gene 1 protein;solute carrier family 35 member E3;solute carrier family 35, member E2 protein-coding 20864 15375 VALIDATED 1319214 SLC35E2 solute carrier family 35, member E2 1 1 1 p36.33 917683 931435 + 1653541 1667291 - 1656277 1677438 - 6480464 14702039;12477932;9455484;19322201 9906 P0CK97;Q6ZTL7 ABBA01016066;ABBA01016067;AI802363;AK092315;AK126501;AL031282;AL049665;AMYH01000157;BC062371;BC101666;BC112289;DB461679;NM_001199787;NM_182838 AAI01667;AAI12290;ADR83324;BAC86569;CAB41241;NP_001186716;NP_878258;P0CK97 Hs.655255;Hs.707620;Hs.736504;Hs.744616 1648002;1648178;1649653;1656065;1657123;2133069;5015861;5017170;5022578;7185938 A002H48;D10S16;D1S1423;D1S1893E;D1S2565;L29953;RH12898;SHGC-74106;SHGC-74113 DKFZp686M0869;FLJ34996;FLJ44537;KIAA0447;MGC104754;MGC117254;MGC126715;MGC138494 OTTHUMP00000000895;OTTHUMP00000039052;solute carrier family 35 member E2;solute carrier family 35, member E2 protein-coding ENSG00000215790 20863 15374 VALIDATED 1602959 SLC35E4 solute carrier family 35, member E4 22 22 22 q12.2 14831889 14843953 + 29361793 29373862 + 31031793 31043862 + 6480464 15461802;12477932;21906983 339665 H7C3S2;Q6ICL7 ABBA01055303;AC005006;AMYH01012709;BC040191;BC093099;BC107119;CH471095;CR456351;NM_001001479 AAH40191;AAH93099;AAI07120;CAG30237;CAK54492;CAK54791;EAW59912;NP_001001479;Q6ICL7 Hs.660384 2149695 STS-AA010644 MGC129826 OTTHUMP00000199169;solute carrier family 35 member E4 protein-coding ENSG00000100036 17058 15376 PROVISIONAL 1319908 SLC35E1 solute carrier family 35, member E1 19 19 19 p13.11 16562488 16585032 - 16523564 16544193 - 16660648 16683193 - 1580863;6480464 16303743;15489334;14702039;12477932;16169070;21890473;21906983 79939 C9JK45;H7C1I0;Q96K37 ABBA01051149;ABBA01051150;AC008764;AK024313;AK027699;AK027850;AK075355;AL080085;AMYH01009563;BC007731;BC014557;BC062562;BU619655;BX640756;CH471106;CR457326;NG_031959;NM_024881 AAH14557;AAH62562;BAB14879;BAB55306;BAB55410;BAC11565;CAE45863;CAG33607;EAW84550;EAW84551;EAW84552;EAW84553;NP_079157;Q96K37 Hs.620596 1680447;1699634;1708140;5015404;5015961;5016478;5022576;5117897 D15S1477;D1S1361;GDB:434012;GDB:631813;L17705;RH103420;RH93836;SHGC-81472 DKFZp564G0462;FLJ14251;FLJ36689;MGC44954 OTTHUMP00000201974;OTTHUMP00000201992;solute carrier family 35 member E1 protein-coding ENSG00000127526 20803 15373 VALIDATED 1353208 SLC35F1 solute carrier family 35, member F1 6 6 6 q22.31 118971646 119382119 + 118335382 118745524 + 118228689 118638839 + 6480464 14702039;12477932;20639392;19305408;19584346;19587794;20200953;20379614;21076409;23400010 222553 Q5T1Q4 ABBA01026028;ABBA01026029;ABBA01026030;ABBA01026031;AK092207;AK128717;AK295860;AL133379;AL136478;AL449196;AL450405;AL590621;AMYH01016621;AMYH01016622;BC028615;BC036493;BC114925;BX640761;CH471051;NM_001029858;Z95326 AAH28615;AAH36493;AAI14926;BAG54715;BAG58664;CAE45867;CAI16177;EAW48199;EAW48200;NP_001025029;Q5T1Q4 Hs.654841 1647884;1649331;1666437;1709154;1710664;1717785;1755295;1768013;1780184;2145039;5014051;5021453;5021884;5022578;5037552 A008R47;AL020969;D1S1423;D6S1075;D6S1954;D6S1997;D8S2278;D8S2279;RH121802;SHGC-142186;SHGC-154554;SHGC-79599;SHGC-85738;STS-N66295;ha2102 C6orf169;FLJ13018;dJ230I3.1 OTTHUMP00000017091;solute carrier family 35 member F1 protein-coding ENSG00000196376 21483 18751 VALIDATED 4109106 SLC35E2B solute carrier family 35, member E2B 1 1 1 p36.33 953254 984414 + 1582799 1618022 - 1592939 1624243 - 6480464 12477932;14702039;15489334;16344560;16710414;9455484 728661 P0CK96 AB007916;ABBA01016063;ABBA01016064;ABBA01016065;AK022944;AK092311;AK125619;AK307886;AL031282;AL049249;AL691432;AMYH01000147;BC010500;BC073811;BC092507;BC110653;BQ446951;CR936618;DA794179;DB450858;NM_001110781 AAI10654;BAA32292;BAG52529;BAG54222;CAI56761;NP_001104251;P0CK96 Hs.655255 1648002;1648178;1649653;1656065;1657123;2119953;2133069;2218002;5015619;5021872 A002H48;D11S3114;D1S1893E;D1S2565;RH12898;SHGC-74089;SHGC-74106;SHGC-74113;SLC35E2_3751;sY3084 DKFZp564C093;DKFZp686M0869;FLJ43631;KIAA0447;MGC104754;MGC117254;SLC35E2 OTTHUMP00000096308;OTTHUMP00000096309;solute carrier family 35 member E2;solute carrier family 35 member E2B protein-coding ENSG00000189339 33941 VALIDATED 1351439 SLC35F4 solute carrier family 35, member F4 14 14 14 q22.2 38080673 38113630 - 57100393 57133368 - 58030640 58332592 - 6480464 12477932;20889312;17554300;21254220 341880 A4IF30;G3V2S4;G3V4Z9;H0YJV4 ABBA01018241;ABBA01018242;ABBA01018243;ABBA01018244;AL049838;AL132668;AL136520;AL161804;AMYH01005753;AMYH01005754;AMYH01005755;BC101318;BC101319;BC101320;BC101321;BX107164;NM_001206920 A4IF30;AAI01319;AAI01321;AAI01322;NP_001193849 Hs.28280 1787664;2172119 RH15698;SHGC-156148 C14orf36;FLJ37712;c14_5373 OTTHUMP00000245812;OTTHUMP00000245823;solute carrier family 35 member F4 protein-coding ENSG00000151812 19845 VALIDATED 1344599 SLC35F2 solute carrier family 35, member F2 11 11 11 q22.3 104816599 104884333 - 107166927 107234864 - 107661717 107729914 - 6480464 19322201;16344560;14702039;12477932;9119394;20379614;21874247;21139048;21890473;21906983;23000965;23453885 54733 B4DUB9;E9PJD1;E9PKZ2;E9PRY2;Q8IXU6 ABBA01039876;AK023080;AK128062;AK300582;AL833969;AMYH01004016;AP001024;AY078178;BC013022;BC039195;BC048302;CH471065;DA840333;DC352180;NM_017515;X99961 AAH39195;AAH48302;AAL82572;BAB14394;BAC87256;BAG62281;CAA68226;CAI46204;EAW67095;EAW67096;EAW67097;EAW67098;EAW67099;NP_059985;Q8IXU6 Hs.524014 1649551;2184723;2184725;2220620;5491433 D11S4652;MARC_11837-11838:1029348695:1;RH12476;RH48962;UniSTS:486077 DKFZp667H1615;FLJ13018;HSNOV1 OTTHUMP00000232730;OTTHUMP00000232731;OTTHUMP00000232733;OTTHUMP00000232734;lung squamous cell cancer related protein LSCC-3;solute carrier family 35 member F2 protein-coding ENSG00000110660 23615 15377 VALIDATED 1354059 SLC35G1 solute carrier family 35, member G1 10 10 10 q23.33 89393872 89402633 + 95643720 95652480 + 95653730 95662491 + 737633;6480464 12477932 15489334;15164054;14702039;21569384;19322201 159371 Q2M3R5 ABBA01021866;AK091309;AL138923;AMYH01002963;BC036382;BC041432;BC047102;BC104814;BC143284;CH471066;NM_001134658;NM_153226 AAH41432;AAI04815;AAI43285;BAC03633;EAW50046;EAW50047;EAW50048;EAW50049;NP_001128130;NP_694958;Q2M3R5 Hs.632085;Hs.744369 1664087;1701418 RH104340;WI-14114 C10orf60;FLJ33990;TMEM20 OTTHUMP00000020123;solute carrier family 35 member G1;transmembrane protein 20 APPROVED protein-coding ENSG00000176273 26607 15531 VALIDATED 1344227 SLC35G4 solute carrier family 35, member G4 18 18 p11.21 11599474 11600674 + 11609595 11610611 + 17101974 646000 P0C7Q5 ABBA01073994;AMYH01008817;AP001017;AP001120;XM_001720870;XM_003960743;XM_928960 P0C7Q5;XP_001720922;XP_003960792;XP_934053 AMAC1L1 acyl-malonyl condensing enzyme 1-like 1;acyl-malonyl-condensing enzyme 1-like protein 1;protein AMAC1L1;solute carrier family 35 member G4;solute carrier family 35, member G4 APPROVED protein-coding 31043 MODEL 1345092 SLC35G6 solute carrier family 35, member G6 17 17 17 p13.1 7410995 7412657 + 7325445 7327107 + 7384721 7386383 + 18950845;17101974 643664 P0C7Q6 ABBA01054870;AC113189;AMYH01008083;NG_027747;NM_001102614 NP_001096084;P0C7Q6 Hs.632234 AMAC1L3;TMEM21B acyl-malonyl condensing enzyme 1-like 3;acyl-malonyl-condensing enzyme 1-like protein 3;protein AMAC1L3;solute carrier family 35 member G6;transmembrane protein 21B APPROVED protein-coding ENSG00000259224 31351 VALIDATED 1317716 SLC35F5 solute carrier family 35, member F5 2 2 2 q14.1 107786371 107828842 - 114188400 114244975 - 114471933 114514400 - 1580863;6480464 12975309;12477932;21139048 80255 B8ZZV6;B8ZZY4;H7C0S5;H7C2I7;Q8WV83 ABBA01045988;AC017074;AF529364;AK024666;AK025657;AK315719;AMYH01010968;AY358620;BC018537;BC050096;CH471103;NM_025181 AAH18537;AAQ09598;AAQ88983;AAY14808;BAB14954;BAB15206;BAG38077;EAW95174;EAW95175;EAW95176;EAW95177;NP_079457;Q8WV83 Hs.632527 1679491;1693464;1728613;1755681;2108493 G63598;RH45879;SHGC-142524;SHGC-59111;SLC35F5_8097 FLJ22004 HCV NS5A-transactivated protein 3;OTTHUMP00000162050;OTTHUMP00000203796;hepatitis C virus NS5A-transactivated protein 3;solute carrier family 35 member F5 protein-coding 23617 11579 PROVISIONAL 1347980 SLC35F3 solute carrier family 35, member F3 1 1 1 q42.2 207636740 207731155 + 232107302 232526885 + 234040679 234460262 + 1580863;6480464 14702039;12477932;20379614;19913121;20628086 148641 Q8IY50 ABBA01033083;ABBA01033084;ABBA01033085;ABBA01033086;ABBA01033087;ABBA01033088;ABBA01033089;ABBA01033090;ABBA01033091;ABBA01033092;ABBA01033093;ABBA01033094;AK095031;AL122008;AL672045;AL713868;AMYH01001830;AMYH01001831;BC037878;BX005090;CH471098;NM_173508 AAH37878;BAC04479;EAW69991;NP_775779;Q8IY50 Hs.158748 1335412;1655947;1660034;1687073;1716295;1716389;1726441;1763653;1766229;1853798;2120136;2137225;2137276;2138866;2185072;2218004 AL009393;AL009446;AL009849;AL009917;AL009932;AL009946;D1S2800;G09521;G09816;G62600;RH121177;RH121375;RH98329;SHGC-147339;SHGC-149590;SLC35F3_3714 FLJ37712 OTTHUMP00000036032;OTTHUMP00000063513;solute carrier family 35 member F3 protein-coding ENSG00000183780 23616 15378 PROVISIONAL 1319452 SLC35F6 solute carrier family 35, member F6 2 2 2 p23.3 26833199 26850160 + 26840646 26857603 + 26987142 27004099 + 737633;6480464 12477932 19154410;16303743;16169070;15815621;15489334;12975309;14702039;8125298;15911612;21674799;18029348;21139048;21890473;19322201 54978 B4DLH2;F8WB19;F8WCT7;Q8N357 ABBA01045188;AC011740;AK000562;AK025889;AK075164;AK222929;AK296996;AK299598;AMYH01010194;AY358820;BC005887;BC011013;BC016389;BC028081;BC035519;BX647807;BX648017;CH471053;CR457243;NM_017877 AAH28081;AAQ89179;AAX93265;AAX93266;BAA91255;BAC11445;BAD96649;BAG59534;BAG61529;CAG33524;EAX00673;EAX00674;EAX00675;EAX00676;NP_060347;Q8N357 Hs.1594;Hs.516034 1857416;2138606;2170791;5014563;5015879;5016478;5017266;5022578;5022651 A007A23;D11S2921;D1S1423;D2S2602;D2S2929;GDB:314949;GDB:434012;L17676;L18506 ANT2BP;C2orf18;FLJ20555;TANGO9 ANT2-binding protein;OTTHUMP00000158508;solute carrier family 35 member F6;transmembrane protein C2orf18;transport and golgi organization 9 homolog APPROVED protein-coding ENSG00000213699 26055 12808 VALIDATED 1314532 SLC35G2 solute carrier family 35, member G2 3 3 3 q22.3 134964163 135001036 + 138020551 138057424 + 136537861 136574734 + 737633;1580863;6480464 12477932 11256614;19148500;17081983;16381901;15489336;15489334;11230166;11076863;16712791;16169070;20237496 80723 Q8TBE7 ABBA01059108;ABBA01059109;AC011597;AC096992;AK314079;AL136661;AMYH01013522;BC000111;BC022557;BC050423;BI962644;CB123281;CH471052;NM_001097599;NM_001097600;NM_025246 AAH00111;AAH22557;BAG36777;CAB66596;CAL37816;CAL38252;EAW79111;EAW79112;EAW79113;NP_001091068;NP_001091069;NP_079522;Q8TBE7 Hs.477692 1649908;1684660;1735294;1748465;1851520;2147314;5019727 A009K39;D3S2936E;G32625;RH44736;RH80984;SHGC-64775;STS-N27030 DKFZp564K2464;MGC3295;TMEM22 OTTHUMP00000216499;OTTHUMP00000216500;solute carrier family 35 member G2;transmembrane protein 22 APPROVED protein-coding ENSG00000168917 28480 15532 VALIDATED 1318445 SLC37A1 solute carrier family 37 (glucose-6-phosphate transporter), member 1 SLC37A1, a member of the sugar-phosphate transport family, transports glycerol-3-phosphate (G3P) between cellular compartments for its utilization in several compartment-specific biochemical pathways.[supplied by OMIM, Jul 2004] 21 21 21 q22.3 29068693 29150480 + 42792811 42874619 + 43919742 44001550 + 1580863;6480464 15862967;11112347;10830953;16009131;21949678 54020 P57057 ABBA01004540;ABBA01004541;ABBA01004542;AF311320;AJ269529;AJ277912;AJ277913;AK025993;AL355683;AMYH01012267;AMYH01012268;AP001625;AW466890;BC042139;BI912541;CH471079;NM_018964 AAG29853;AAI48369;AAI52998;CAB87248;CAB91985;CAB91986;EAX09552;EAX09553;NP_061837;P57057 Hs.547009 1661795;1662712;1685083;1688058;1730708;1758297;1766503;1784436;2131157;2173337;2189985;5014053;7186555 99-2525;D1S3693;D21S1831;D21S358;G34680;RH41909;RH45258;SHGC-147977;SHGC-147978;SHGC-149823;SHGC-6858;WI-17658 FLJ22340;G3PP G-3-P permease;G-3-P transporter;OTTHUMP00000109360;OTTHUMP00000109362;glycerol-3-phosphate permease;glycerol-3-phosphate transporter;solute carrier family 37 member 1 APPROVED protein-coding ENSG00000160190 11024 10479 608094 REVIEWED 1350379 SLC35G3 solute carrier family 35, member G3 17 17 17 q12 30429712 30431585 - 30543652 30545490 - 33519539 33521412 - 1580863;6480464 17101974;14702039;12477932 146861 Q8N808 ABBA01011228;AC022916;AK097473;AMYH01008353;BC136422;BC140700;CH471147;NM_152462 AAI36423;AAI40701;BAC05067;EAW80161;NP_689675;Q8N808 Hs.514814 5493395 UniSTS:485979 AMAC1;FLJ40154;TMEM21A OTTHUMP00000163850;acyl-malonyl condensing enzyme 1;acyl-malonyl-condensing enzyme 1;protein AMAC1;solute carrier family 35 member G3;transmembrane protein 21A APPROVED protein-coding ENSG00000164729 26848 12450 VALIDATED 1605928 SLC35G5 solute carrier family 35, member G5 This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011] 8 8 8 p23.1 10316520 10317720 + 11225905 11227105 + 11188495 11189695 + 6480464 19060906;17101974;11896452;20571754;12477932;20160193;20972250 83650 Q96KT7 ABBA01026881;AF131216;AJ291677;AMYH01018480;BC131696;CH471157;NM_054028 AAI31697;CAC82744;EAW65610;NP_473369;Q96KT7 Hs.458397 AMAC;AMAC1L2 OTTHUMP00000115812;acyl-malonyl condensing enzyme 1-like 2;acyl-malonyl-condensing enzyme 1-like protein 2;protein AMAC1L2;solute carrier family 35 member G5 APPROVED protein-coding ENSG00000177710 15546 09796 615199 REVIEWED 1319236 SLC36A3 solute carrier family 36, member 3 5 5 5 q33.1 146737294 146764697 - 150636516 150663520 - 150655926 150683334 - 6480464 15058382;12809675;12477932;19910524 285641 Q495N2 ABBA01026263;AC008385;AK127978;AK131483;AMYH01015711;AY162215;AY228365;BC101092;BC101093;BC101094;BC101095;CH471062;NM_001145017;NM_181774 AAI01093;AAI01094;AAI01095;AAI01096;AAO11789;BAC87215;BAD18628;EAW61679;NP_001138489;NP_861439;Q495N2 Hs.720893 1687051 RH92822 FLJ16658;MGC119638;MGC119639;MGC119641;PAT3;TRAMD2;tramdorin2 OTTHUMP00000160623;OTTHUMP00000224128;proton-coupled amino acid transporter 3;proton/amino acid transporter 3;solute carrier family 36 member 3;solute carrier family 36, member 3;tramdorin 2;tramdorin-2 APPROVED protein-coding ENSG00000186334 19659 12216 608332 VALIDATED 1354285 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010] 5 5 5 q33.1 146775913 146808530 - 150674732 150707312 - 150694539 150727151 - 6480464;7240710 14600155;12809675;12477932;11959859;19240061;15058382;18195088;19845895;19033659 153201 E5RGH8;E5RJJ5;H0YB43;Q495M3 ABBA01026263;AC008385;AK297682;AK309575;AMYH01015711;AY162214;AY228364;BC101100;BC101101;BC101102;BC101103;BX538285;CH471062;DC362112;NG_027745;NM_181776 AAI01101;AAI01102;AAI01103;AAI01104;AAO11788;AAO74832;BAG60042;EAW61678;NP_861441;Q495M3 Hs.483877 1780982;1858214;2108497;2168571;5015961;5022322;5037552 D11S2560;D15S1477;D5S587;D8S2279;G16919;SLC36A2_8149;bac5574S FLJ16051;MGC119658;MGC119660;PAT2;TRAMD1 OTTHUMP00000160624;OTTHUMP00000224111;proton-coupled amino acid transporter 2;proton/amino acid transporter 2;solute carrier family 36 member 2;solute carrier family 36, member 2;tramdorin;tramdorin-1 APPROVED protein-coding ENSG00000186335 18762 12215 138500;242600;608331 REVIEWED 736301 SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. [provided by RefSeq, Jul 2008] 5 5 q33.1 150807356 150852133 + 150827163 150871940 + 633316;1580863;6480464 11390972 11256614;19409386;18230330;17050537;16381901;16331283;15754324;15521011;15489336;15058382;14702039;12809675;12598615;12527723;11959859;11230166;11076863;16341674;12477932;18195088;19074966;19358571;19549785;20498635;22574197;22975709;22853447 206358 E5RG64;E5RHG5;E5RI40;E7EW39;H0YB60;H0YBS2;Q7Z2H8 ABBA01026262;AC034205;AF516142;AK000729;AK025102;AK057340;AK309323;AL833703;AMYH01015712;AMYH01015713;AY162213;AY227111;AY227112;AY227113;BC136437;BC136438;BK001052;BM787446;BX537963;CH471062;GU296670;NM_078483 AAI36438;AAI36439;AAI46686;AAO11787;AAO37091;AAO37092;AAO37093;AAP47194;ACE86861;ACE87549;ADB56966;BAB71435;CAD97927;CAL38601;DAA01126;EAW61674;EAW61675;EAW61676;EAW61677;NP_510968;Q7Z2H8 Hs.269004 1668679;1682385;1721461;1740369;1764921;2108495;2140048;2141467 D5S1838;D5S1938;D5S2195E;G59583;SGC35164;SHGC-148481;SLC36A1_8157;WIAF-2087 Dct1;LYAAT1;PAT1;TRAMD3 OTTHUMP00000160620;OTTHUMP00000224120;OTTHUMP00000224123;hPAT1;lysosomal amino acid transporter 1;proton-coupled amino acid transporter 1;proton/amino acid transporter 1;solute carrier family 36 member 1;ysosomal amino acid transporter 1 APPROVED protein-coding ENSG00000123643 18761 07584 606561 REVIEWED 1313712 SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2 11 11 11 q24.2 122093053 122120452 + 124438442 124464341 + 124933013 124960412 + 6480464 12811562;12477932;21949678 219855 E9PRJ4;Q8TED4 ABBA01031248;AF318322;AK074100;AK074207;AK290314;AK296975;AMYH01004104;AP001007;AP003172;BC051314;BC062990;CH471065;NM_001145290;NM_198277 AAH51314;AAH62990;AAL55829;BAB84926;BAB85016;BAF83003;BAH12466;EAW67619;EAW67620;EAW67621;EAW67622;NP_001138762;NP_938018;Q8TED4 Hs.352661 1645336;1737023;1766065;5022651;5037552;5109281 D11S2413;D11S2773;D11S2921;D1S1425;D8S2279;SHGC-149448 FLJ00171;MGC71430;pp11662 OTTHUMP00000231401;OTTHUMP00000231403;solute carrier family 37 member 2;sugar phosphate exchanger 2 APPROVED protein-coding 20644 15380 VALIDATED 1323033 SLC36A4 solute carrier family 36 (proton/amino acid symporter), member 4 SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011] 11 11 11 q21 90179804 90230049 - 92520498 92570743 - 92880850 92931095 - 6480464 14702039;12477932;21097500;20498635;23251661 120103 E9PID7;E9PN09;Q6YBV0 ABBA01040051;ABBA01040052;ABBA01040053;AJ295983;AK096251;AMYH01003951;AP003072;AY162216;BC047374;CH471065;NM_152313 AAH47374;AAO11790;ADZ15553;BAC04737;CAC82496;EAW66895;EAW66896;EAW66897;NP_689526;Q6YBV0 Hs.148766 1671691;2108925;2133904;2169428 HSC2CA042;RH66340;SLC36A4_8132;WI-18662 FLJ38932;PAT4 OTTHUMP00000235803;OTTHUMP00000235804;OTTHUMP00000235805;proton-coupled amino acid transporter 4;proton/amino acid transporter 4;solute carrier family 36 member 4 APPROVED protein-coding 19660 15379 613760 PROVISIONAL 1321198 SLC37A3 solute carrier family 37, member 3 7 7 7 q34 134755301 134820377 - 139680021 139744780 - 140033552 140098311 - 6480464 12811562;12690205;12477932;11230166;9847074;21988832 84255 B4DTL4;C9J4S7;C9JZ37;F8WAR9;F8WC97;F8WF28;H7C4I4;H7C4J2;H7C4J3;H7C4J5;H7C4U0;H7C4U5;H7C4Z5;H7C594;H7C5E7;H7C5T4;Q8NCC5 AACC02000022;ABBA01034062;ABBA01034063;ABBA01034064;ABBA01034065;AC093087;AK074823;AK126589;AK131347;AK296543;AK299276;AK300265;AL136583;AMYH01017985;AMYH01017986;BC028380;BC046567;CD101739;CH236950;CH471070;CQ834428;NM_032295;NM_207113 AAH28380;AAH46567;AAQ93361;ACE86951;ACE86981;ACE87642;ACE87670;ADR82761;BAC11231;BAG54349;BAG59167;BAG61295;BAG62026;CAB66518;CAH05429;EAL24030;EAL24031;EAW83943;EAW83944;EAW83945;EAW83946;EAW83947;NP_115671;NP_996996;Q8NCC5 Hs.446021;Hs.738791 1665913;1677911;1686516;1701000;5024545;5037552 D1S3695;D8S2279;RH104127;RH80207;SHGC-24030;SHGC-32230 FLJ16367;MGC32939 OTTHUMP00000211976;OTTHUMP00000211977;OTTHUMP00000211978;OTTHUMP00000211979;solute carrier family 37 member 3;sugar phosphate exchanger 3 APPROVED protein-coding ENSG00000157800 20651 15381 VALIDATED 1601937 SLC38A10 solute carrier family 38, member 10 17 17 17 q25.3 75849343 75903449 - 76833394 76883691 - 79218799 79269096 - 6480464 14702039;12477932;20834067;21906983;23382691 124565 F5H3T4;H0YF92;H0YGS1;I3L0Q8;Q9HBR0 ABBA01032134;ABBA01032135;ABBA01032136;AC027601;AF086389;AI476273;AK093037;AK128263;AMYH01008707;AMYH01008708;BC007391;BC011702;BC014156;BC014642;BC020925;BI194553;BQ642219;BU552914;CA416101;CH471099;NM_001037984;NM_138570 AAH14642;AAH20925;BAC04027;EAW89641;EAW89642;EAW89643;NP_001033073;NP_612637;Q9HBR0 Hs.352240 1689929;1776102;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;RH92126;STS-T49250 FLJ35718;FLJ46399;MGC15523;PP1744 OTTHUMP00000237711;OTTHUMP00000237713;putative sodium-coupled neutral amino acid transporter 10 protein-coding ENSG00000157637 28237 17506 VALIDATED 1605863 SLC38A11 solute carrier family 38, member 11 2 2 2 q24.3 159365443 159422633 - 165463058 165520281 - 165754709 165812035 - 6480464 14702039;12477932;20379614 151258 B8ZZ86;H7C1P1;Q08AI6 ABBA01004912;AC019197;AK097141;AK293998;AMYH01011226;BC125156;BC125157;CH471058;NM_001199148;NM_173512 AAI25158;AAY14946;BAC04962;BAG57360;EAX11337;NP_001186077;NP_775783;Q08AI6 Hs.658702 1657841;1663466;1669018;1855872 G28400;G29523;RH46112;RH78736 AVT2;FLJ39822;MGC150450 OTTHUMP00000163013;OTTHUMP00000204829;OTTHUMP00000204830;OTTHUMP00000204831;putative sodium-coupled neutral amino acid transporter 11 protein-coding ENSG00000169507 26836 08267 VALIDATED 1351082 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009] 11 11 q23.3 118400274 118406800 - 118895061 118901616 - 1599000;1625641;6480464;7240710 9428641;10567346 12560945;212064;19008136;18267120;17460777;17354259;16777101;16435186;16344560;15906092;15669677;15489334;15260472;15059622;12477932;12409273;11949931;11071391;11032333;10931421;10923042;10874322;10518030;10482962;10482875;10323254;10318794;10026167;10023055;9925924;9856496;9822626;9781688;9758626;9675154;9598717;9463334;15862967;17207965;20578944;11140953;21446359;21575371;21906983;20301489 2542 A8K0S7;B4DUH2;O43826 AB209026;ABBA01039681;AF078163;AF097831;AF110819;AF110820;AF110821;AF110822;AF111852;AF116864;AK289642;AK294993;AK298395;AK300646;AK312628;AMYH01004080;AP003392;AY423732;BC002400;BC003589;BC014663;BC015650;BC064563;BM506735;CH471065;CR456733;DA485567;DC295438;FP885832;NG_013331;NM_001164277;NM_001164278;NM_001164279;NM_001164280;NM_001467;Y15409;Y17864 AAC72916;AAD13111;AAD19898;AAF16691;AAF37735;AAF37736;AAH02400;AAH03589;AAH14663;AAH15650;AAH64563;AAS00495;ADQ32771;BAD92263;BAF82331;BAG60630;BAG62334;BAH11943;CAA75608;CAA76898;CAG33014;EAW67432;EAW67433;EAW67434;EAW67435;EAW67436;EAW67437;EAW67438;EAW67439;NP_001157749;NP_001157750;NP_001157751;NP_001157752;NP_001458;O43826 Hs.719203 1664130;1857772;2107605;5024543 A007J44;D1S3690;RH35862;SLC37A4_7228 G6PT1;G6PT2;G6PT3;GSD1b;GSD1c;GSD1d;MGC15729;PRO0685;TRG-19;TRG19 glucose-5-phosphate transporter;glucose-6-phosphatase, transport (glucose) protein 3;glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1;glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2;glucose-6-phosphate translocase;microsomal glucose-6-phosphate transporter;solute carrier family 37 member 4;transformation-related gene 19 protein APPROVED protein-coding 4061 04052 232220;232240;602671 REVIEWED 735316 SLC38A1 solute carrier family 38, member 1 Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008] 12 12 q13.11 44863105 44949475 - 46576838 46663208 - 6480464;6907045 10891391;18703994;17549407;16344560;16303743;15054072;14702039;12477932;11325958;8125298;16516348;18195088;19442705;20308991;20379614;20599747;21219957;20605601;21987572;21139048;21890473;21906983;21963094;7750094 81539 F8VX04;F8VX12;Q9H2H9 AA740867;AA864710;ABBA01031455;AC016254;AC025031;AF247166;AF271070;AK024263;AK025900;AK027825;AK056670;AK074758;AK074797;AK074851;AK074949;AK130314;AK225639;AK225778;AK308129;AK309410;AK313731;AMYH01004426;BC010620;BQ019472;BX647547;BX648495;BX648676;CH471111;DB229647;NM_001077484;NM_001278387;NM_001278388;NM_001278389;NM_001278390;NM_030674;S77359 AAG39354;AAG44546;AAH10620;ABM81943;ABW03351;BAB55394;BAC11186;BAC11215;BAC11310;EAW57895;EAW57896;EAW57897;EAW57898;EAW57899;NP_001070952;NP_001265316;NP_001265317;NP_001265318;NP_001265319;NP_109599;Q9H2H9 Hs.533770 1648602;1659403;1712456;1739173;1769510;1775218;1852337;2125299;2125301;2155372;2218006 A005Y12;D12S1372;G20591;G54265;RH17801;RH66777;SGC31837;SLC38A1_3684;STS-W70087;WI-13331;WI-19766 ATA1;NAT2;SAT1;SNAT1 N-system amino acid transporter 2;OTTHUMP00000241206;OTTHUMP00000241207;OTTHUMP00000241208;OTTHUMP00000241209;OTTHUMP00000241210;amino acid transporter A1;amino acid transporter system A1;sodium-coupled neutral amino acid transporter 1;system A amino acid transporter 1;system N amino acid transporter 1 APPROVED protein-coding ENSG00000111371 13447 12245 608490 VALIDATED 2290191 SLC38A8 solute carrier family 38, member 8 16 16 16 q23.3 68345794 68378119 - 82600890 82633263 - 84043389 84075762 - 11181995;20379614;23213074 146167 A6NNN8;H3BP02;H3BUP5 ABBA01016920;ABBA01016921;ABBA01016922;AC040169;AMYH01007867;CH471114;NM_001080442 A6NNN8;EAW95507;NP_001073911 Hs.461575 putative sodium-coupled neutral amino acid transporter 8 protein-coding ENSG00000166558 32434 PROVISIONAL 730997 SLC38A3 solute carrier family 38, member 3 3 3 3 p21.3 50215521 50231235 + 50217696 50233410 + 50242692 50258406 + 634178;1580863;6480464;6907045 10619430 10823827;16641997;16432833;16381901;15489336;15489334;15342556;15094455;12788082;12477932;11256614;11230166;11085536;11076863;16169070;18195088;19892400;20737472 10991 Q99624 ABBA01024553;AC002077;AF244548;AK293801;AK299677;AK313461;AMYH01013168;BC042875;BP362985;BX537382;CH471055;CR456970;NM_006841;U49082 AAB47236;AAG15313;AAH42875;BAG36247;BAH11599;BAH13100;CAD97624;CAG33251;CAL37630;CAL38420;EAW65049;EAW65050;NP_006832;Q99624 Hs.76460 1686114;1738909;1775689;1793470;2110745;2116095 D3S3181;PMC22669P16;RH65839;RH75882;SLC38A3_7985;STS-T62038 G17;NAT1;SN1 N-system amino acid transporter 1;Na(+)-coupled neutral amino acid transporter 3;sodium-coupled neutral amino acid transporter 3;system N amino acid transporter 1;system N1 Na+ and H+-coupled glutamine transporter protein-coding 18044 11980 604437 VALIDATED 736694 SLC38A2 solute carrier family 38, member 2 12 12 q 45038238 45052814 - 46751971 46766645 - 68920;1580863;6480464;6907045 10747860 18703994;18697751;17237199;16621896;16621798;16616430;16445384;16344560;16125834;15951569;15922329;15581851;14702039;14623874;12477932;12054432;10930503;10718198;16169070;18195088;19589777;19741197;20206993;21832049;22939629;21622135;21930789;20972266;21139048;21890473;21906983;21987572;22028413;19322201;22505724 54407 F8VQW8;F8VUY8;Q96QD8 AB037803;ABBA01031456;AC025031;AF116620;AF259799;AF298897;AJ344099;AK001700;AK172784;AK291644;AK293858;AMYH01004426;BC016909;BC029379;BC040342;CH471111;CR457267;DA725217;NM_018976 AAF71044;AAG24618;AAH29379;AAH40342;AAK38510;ABM82727;ABM85911;BAA91846;BAA92620;BAD18765;BAF84333;BAG57253;CAC51434;CAG33548;EAW57900;EAW57901;EAW57902;NP_061849;Q96QD8 Hs.221847 1644875;1649120;1663345;1778934;2156734 D12S2010;RH11173;RH17405;RH67932;WI-11919 ATA2;KIAA1382;PRO1068;SAT2;SNAT2 OTTHUMP00000241212;amino acid transporter 2;amino acid transporter A2;protein 40-9-1;sodium-coupled neutral amino acid transporter 2;system A amino acid transporter 2;system A transporter 1;system N amino acid transporter 2 protein-coding ENSG00000134294 13448 05535 605180 VALIDATED 1321172 SLC38A6 solute carrier family 38, member 6 14 14 14 q23.1 41498096 41600701 + 60517633 60588929 + 61447832 61550451 + 6480464 12477932;9110174;8619474;15342556;18029348;19322201 145389 E7ETF2;E9PM79;E9PMA3;G3V3H5;H0YDY0;H0YE10;H0YEH3;H0YF42;H0YJ85;H0YJG2;H0YJU1;Q8IZM9 ABBA01018292;ABBA01018293;AF070578;AF543422;AK303839;AL160234;AL160236;AMYH01005771;AMYH01005772;AMYH01005773;AMYH01005774;AMYH01005775;BC050349;BC064429;BC110378;BP352279;BX248072;BX648332;CH471061;DC394244;DR002669;NM_001172702;NM_153811;NR_033344 AAI10379;AAN47144;BAG64783;CAD62361;EAW80793;EAW80794;EAW80795;EAW80796;EAW80797;EAW80798;NP_001166173;NP_722518;Q8IZM9 Hs.200738 1705238;1776955;1847681 RH44909;SHGC-16536;SHGC-78107 MGC102697;NAT-1 N system amino acid transporter NAT-1;N-system amino acid transporter 1;Na(+)-coupled neutral amino acid transporter 6;OTTHUMP00000179047;OTTHUMP00000179048;probable sodium-coupled neutral amino acid transporter 6 protein-coding ENSG00000139974 19863 15382 VALIDATED 1347009 SLC38A4 solute carrier family 38, member 4 SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008] 12 12 12 q13 45955607 46016842 - 45444811 45506006 - 47158544 47219780 - 1580863;6480464 19015196;18703994;16344560;16148032;15489334;14702039;12845534;12477932;11414754;11342143;16712791;18195088;22945694;21917917 55089 F8VQY9;F8VRD9;H0YHZ8;Q969I6 AB055003;ABBA01031460;AC008014;AC080136;AF193836;AF305814;AK001053;AK291168;AMYH01004426;BC069819;BC101827;BC104913;CB164010;CH471111;DB139964;NM_001143824;NM_018018 AAH69819;AAI01828;AAI04914;AAK43528;AAK71508;BAA91481;BAB84090;BAF83857;EAW57917;EAW57918;EAW57919;EAW57920;NP_001137296;NP_060488;Q969I6 Hs.446077 2110117;2110119;2179559;2183455 CH12SSR14;CH12SSR15;RH68486;SGC33305 ATA3;FLJ10191;MGC126876;NAT3;PAAT N amino acid transporter 3;Na(+)-coupled neutral amino acid transporter 4;OTTHUMP00000241405;OTTHUMP00000241406;amino acid transporter A3;amino acid transporter system A3;sodium-coupled neutral amino acid transporter 4;system A amino acid transporter 3;system N amino acid transporter 3 APPROVED protein-coding ENSG00000139209 14679 12159 608065 VALIDATED 730905 SLC38A5 solute carrier family 38, member 5 The protein encoded by this gene is a system N sodium-coupled amino acid transporter involved in the transfer of glutamine, asparagine, histidine, serine, alanine, and glycine. The encoded protein does not transport charged amino acids, imino acids, or N-alkylated amino acids. This transporter is not inhibited by lithium.[provided by RefSeq, Jun 2010] X X X p11.23 53337091 53348808 + 48201871 48213509 - 48316927 48328644 - 6480464 11243884;17333282;16344560;14702039;12477932;18195088;22939629;20972266;21890473;21906983;21987572 92745 C9JHH7;C9JJU1;C9JMY2;C9JNK4;C9JWG4;Q8WUX1 ABBA01045999;ABBA01046000;ABBA01046001;AF196972;AF276889;AF318358;AK094788;AL606490;AMYH01022290;BC019246;BC027721;CH471224;DA089769;NG_021469;NM_033518 AAH19246;AAH27721;AAK61856;AAL55865;ABM83986;ABM87311;BAG52932;EAW50785;EAW50786;EAW50787;EAW50788;EAW50789;EAW50790;NP_277053;Q8WUX1 Hs.195155 1689953;1734338;2184138 DXS6949;G21700;RH93254 JM24;SN2;SNAT5;pp7194 OTTHUMP00000025789;OTTHUMP00000025791;OTTHUMP00000025793;OTTHUMP00000025794;sodium-coupled neutral amino acid transporter 5;system N transporter 2 APPROVED protein-coding ENSG00000017483 18070 06718 300649 REVIEWED 1602480 SLC38A7 solute carrier family 38, member 7 16 16 16 q21 43199597 43219111 - 57257799 57276175 - 58700298 58718674 - 6480464 14702039;12477932;19305408;8125298;21511949 55238 H3BMC5;H3BN87;H3BP25;H3BPK8;H3BPV9;H3BRZ0;H3BU46;H3BV81;Q9NVC3 ABBA01025312;AC010287;AK001677;AK022786;AK222932;AK299424;AMYH01007717;AMYH01007718;BC001961;BC063399;CH471092;CR457236;NM_018231 AAH01961;BAA91830;BAB14244;BAD96652;BAG61404;CAG33517;EAW82985;EAW82986;EAW82987;NP_060701;Q9NVC3 Hs.10499 1677208;1685690;5022651;5024541 D11S2921;D1S3688;RH80140;RH98256 FLJ10815;FLJ12724;SNAT7 OTTHUMP00000164727;amino acid transporter;putative sodium-coupled neutral amino acid transporter 7 protein-coding 25582 07701 614236 PROVISIONAL 1604225 SLC38A9 solute carrier family 38, member 9 5 5 5 q11.2 51875777 51961881 - 54957435 55043852 - 54921673 55008163 - 6480464 16303743;14702039;12477932;20881960 153129 B3KVK8;D6R9Q7;D6R9X0;D6RBB9;D6RDH2;D6RE72;D6RER8;D6RG31;D6RHF5;D6RHW0;D6RIW7;E7ESU6;Q8NBW4 ABBA01015747;ABBA01015748;ABBA01015749;ABBA01015750;AC008784;AC016632;AI580489;AK075190;AK122957;AK127988;AK301850;AMYH01015091;AMYH01015092;BC036232;BC045589;BC066891;BC101361;BC101362;BU632379;BX641065;CH471123;CQ783277;CQ834820;DC371481;NM_001258286;NM_001258287;NM_173514;NR_047649;NR_047650 AAH66891;AAI01363;BAC11460;BAG53820;BAG54613;BAH13566;CAE46032;CAF86482;CAH05625;EAW54925;EAW54926;EAW54927;EAW54928;NP_001245215;NP_001245216;NP_775785;Q8NBW4 Hs.649685 1339106;1785318 D5S664;SHGC-111499 FLJ46104;FLJ90709;MGC120544 OTTHUMP00000161835;OTTHUMP00000221658;OTTHUMP00000221768;OTTHUMP00000221769;OTTHUMP00000221770;putative sodium-coupled neutral amino acid transporter 9 protein-coding ENSG00000177058 26907 08817 VALIDATED 1316445 SLC39A10 solute carrier family 39 (zinc transporter), member 10 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 2 2 2 q32.3 190277406 190358291 + 196230184 196310663 + 196521532 196602426 + 6480464 12659941;12477932;10574462;19064571;20379614;18781797;21987572;21890473;21906983;22832960;19322201 57181 B4DGU0;C9J0F5;E7ENT5;E7EV45;F2Z341;Q05C42;Q9ULF5 AB033091;ABBA01062449;ABBA01062450;AC013274;AI693720;AK074996;AK291241;AK294771;AL050294;AMYH01011380;BC010371;BC029413;BC047493;BC073909;BC101516;BC112223;BX490118;CH471063;CR749813;NM_001127257;NM_020342 AAH29413;AAH73909;AAI01517;AAI12224;ADR83428;BAA86579;BAC11343;BAF83930;BAG57901;CAB43393;CAH18673;EAW70116;EAW70117;EAW70118;EAW70119;NP_001120729;NP_065075;Q9ULF5 Hs.650158 1691068;2113914;2162094;2178305;2218766;5123686 AB060898;DNAH7__4760;RH69214;RH92946;SHGC-36936;WI-21799 DKFZp781L10106;LZT-Hs2;MGC126565;MGC138428 OTTHUMP00000205660;OTTHUMP00000205661;ZIP-10;solute carrier family 39 (metal ion transporter), member 10;solute carrier family 39 member 10;zinc transporter ZIP10;zrt- and Irt-like protein 10 APPROVED protein-coding ENSG00000196950 20861 10572 608733 VALIDATED 1313154 SLC39A1 solute carrier family 39 (zinc transporter), member 1 This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 1 1 q21 152198212 152206812 - 153931588 153940188 - 6480464 10610721;19026724;18765529;18279033;17635580;16303743;16203195;16153295;15489334;14702039;14525987;12888280;12477932;11696349;11301334;10810093;10681536;10477520;16169070;19644445;19802870;20705137;20471814;21103883;21053094;21139048;22349685;22903471;21988832 27173 B4DDY7;Q5T4K2;Q5T4K3;Q5T4K4;Q9NY26 ABBA01049459;AF132942;AF151829;AJ243649;AJ243650;AJ271671;AK074943;AK075257;AK293389;AK297983;AK300244;AL358472;AMYH01001409;AW571711;BC002563;BC003152;BC007886;BC014303;BC047288;BC069261;BG704399;BM807264;CH471121;CQ783764;CR457217;DA052424;DA354647;DA711655;DA818910;DB001496;HY042960;NM_001271957;NM_001271958;NM_001271959;NM_001271960;NM_001271961;NM_014437 AAD27717;AAD34066;AAH02563;AAH03152;AAH07886;AAH14303;ABM84545;ABM86276;BAC11502;BAG52035;BAG56898;BAG60292;BAG62011;CAB59979;CAB59980;CAB82784;CAF86850;CAG33498;EAW53259;EAW53261;EAW53264;EAW53265;EAW53267;NP_001258886;NP_001258887;NP_001258888;NP_001258889;NP_001258890;NP_055252;Q9NY26 Hs.743291;Hs.7854 1670311;1678815;1683243;1778500;1794596;1849705;1856332;2117210;2180479;2191725 D1S1830E;D1S2463;G19748;MARC_5745-5746:996690776:3;PMC321570P9;RH10553;RH16039;RH186;RH64708;WI-22571 ZIP1;ZIRTL OTTHUMP00000035259;OTTHUMP00000035260;OTTHUMP00000035262;OTTHUMP00000035263;OTTHUMP00000038686;ZIP-1;hZIP1;solute carrier family 39 (zinc transporter), member 3;solute carrier family 39 member 1;zinc transporter ZIP1;zinc-iron regulated transporter-like;zinc-iron-regulated transporter-like;zinc/iron regulated transporter-like;zrt- and Irt-like protein 1 protein-coding ENSG00000143570 12876 11984 604740 REVIEWED 1319582 SLC39A12 solute carrier family 39 (zinc transporter), member 12 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] 10 10 10 p12.33 17927289 18018644 + 18280827 18372218 + 18240768 18332221 + 6480464 16311021;14702039;12659941;12477932;16385451;19064571;20379614 221074 F5GX72;Q96NN4 ABBA01034545;ABBA01034546;ABBA01034547;AC069023;AK055061;AK295294;AK303735;AL360231;AL590111;AMYH01002154;BC035118;BC047635;BC065917;BC094700;BC117323;BC143551;CH471072;DB469365;NM_001145195;NM_152725 AAH35118;AAH47635;AAH65917;AAH94700;AAI17324;AAI43552;ADR83097;BAB70848;BAH12025;BAH14035;EAW86199;EAW86200;EAW86201;NP_001138667;NP_689938;Q504Y0 Hs.350895 1663678;1836354;1841038;1882454;1882456;1882458;2106625;2183947 ECD19339;ECD21712;G17490;G17503;REN11920;REN11921;REN11922;SLC39A12__5440 FLJ30499;LZT-Hs8;MGC43205;MGC51099;ZIP-12;bA570F3.1 LIV-1 subfamily of ZIP zinc transporter 8;LZT-Hs8;OTTHUMP00000019246;OTTHUMP00000019247;ZIP-12;solute carrier family 39 (metal ion transporter), member 12;solute carrier family 39 member 12;zinc transporter ZIP12;zrt- and Irt-like protein 12 APPROVED protein-coding ENSG00000148482 20860 15384 608734 VALIDATED 1312289 SLC39A13 solute carrier family 39 (zinc transporter), member 13 This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome.[provided by RefSeq, Mar 2010] 11 11 11 p11.2 47571745 47579746 + 47386758 47394623 + 47430046 47438051 + 1580863;6480464;7240710 18513683;12659941;12477932;19064571;8889548;23213233;18985159;21917916;21739577 91252 E9PNE7;E9PNN7;E9PRH4;E9PSA8;G3V1B2;K4DIA9;K4DIB5;Q96H72 ABBA01060715;AC090559;AK098651;AL133581;AMYH01003542;BC008853;BC019016;BI918365;BX342307;BX647491;CF132216;CH471064;DR001557;NG_017073;NM_001128225;NM_152264 AAH08853;AAH19016;ABM83174;ABW03478;BAC05365;CAH56389;EAW67917;EAW67918;EAW67919;EAW67920;EAW67921;EAW67922;EAW67923;NP_001121697;NP_689477;Q96H72 Hs.523664 FLJ25785 LIV-1 subfamily of ZIP zinc transporter 9;LZT-Hs9;OTTHUMP00000234332;OTTHUMP00000236487;OTTHUMP00000236488;OTTHUMP00000236489;solute carrier family 39 (metal ion transporter), member 13;zinc transporter ZIP13;zrt- and Irt-like protein 13 APPROVED protein-coding ENSG00000165915 20859 608735;612350 REVIEWED 1323721 SLC39A11 solute carrier family 39, member 11 17 17 17 q21.31 67213461 67671934 - 68153683 68600427 - 70642085 71088853 - 1580863;6480464 16344560;14702039;12477932;11707075;11591653;8889548;19913121;20628086;19451621;20379614;22589738;21906983;19322201;23128233;23192594;23400010 201266 J3KRI1;J3KRX2;J3KS66;J3KT59;J3KTP1;J3QLA9;J3QLB2;J3QQP1;J3QRN3;J3QS49;Q8N1S5 ABBA01028877;ABBA01028878;ABBA01028879;ABBA01028880;ABBA01028881;ABBA01028882;ABBA01028883;ABBA01028884;ABBA01028885;ABBA01028886;AC011120;AC025198;AC080037;AC138336;AF331643;AK095227;AK313376;AMYH01008611;AMYH01008612;AMYH01008613;BC035631;BU686998;CH471099;DA380043;NM_001159770;NM_139177 AAH35631;AAL32175;BAC04504;BAG36174;EAW89107;EAW89108;EAW89109;NP_001153242;NP_631916;Q8N1S5 Hs.221127 1338550;1339327;1341934;1686130;1694662;1723657;1749193;1756383;1759571;1762639;1762949;1787892;1850842;2108499;2144311;2164501;2184663 D17S1351;D17S1848;D17S692;G43511;RH118747;RH45475;RH69804;RH78720;RH91208;SHGC-110876;SHGC-143352;SHGC-146444;SHGC-146701;SHGC-150922;SHGC-173571;SLC39A11_8154;STS-D20379 C17orf26;ZIP11 ZIP-11;Zrt- and Irt-like protein 11;solute carrier family 39 member 11;zinc transporter ZIP11 APPROVED protein-coding ENSG00000133195 14463 15383 VALIDATED 1315975 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 8 8 8 p21.3 21186754 21253275 + 22280737 22336143 + 22224762 22291642 + 1580863;6480464 18524764;15863613;15642354;12659941;12477932;9391139;7584044;20587610;18029348;20682781;20938052;21462106;22137264;16196087;21903422;21987572;21139048;21906983;19322201;21373779;22318508;21963094;23110240;22173985;23052185 23516 E5RFF5;E5RFT1;E5RFZ8;E5RGA7;E5RIP4;E5RJG5;Q15043 AA181885;ABBA01005512;ABBA01005513;ABBA01005514;ABBA01005515;ABBA01005516;AC087854;AC105910;AF026940;AK172810;AK295807;AMYH01018565;AMYH01018566;BC000068;BC015770;BX648538;CH471080;D31887;DC323208;DC423882;NM_001128431;NM_001135153;NM_001135154;NM_015359 AAH15770;ADZ15405;BAA06685;BAD18780;BAG58625;EAW63680;EAW63681;EAW63682;EAW63683;NP_001121903;NP_001128625;NP_001128626;NP_056174;Q15043 Hs.491232 1341270;1658707;1662224;1689422;1735804;1774509;1854588;2156672;2167080;2170054;2218008;5092886 1684;A009B38;D8S1419E;D8S1587;D8S1931;D8S439;G32392;RH11601;RH16598;RH25295;SHGC-56581;SLC39A14_3803 KIAA0062;LZT-Hs4;NET34;ZIP14;cig19 LIV-1 subfamily of ZIP zinc transporter 4;OTTHUMP00000123432;OTTHUMP00000123433;OTTHUMP00000123434;OTTHUMP00000226296;ZIP-14;Zrt-, Irt-like protein 14;solute carrier family 39 (metal ion transporter), member 14;solute carrier family 39 member 14;zinc transporter ZIP14;zrt- and Irt-like protein 14 APPROVED protein-coding ENSG00000104635 20858 12288 608736 VALIDATED 1314826 SLC39A2 solute carrier family 39 (zinc transporter), member 2 This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010] 14 14 q11.2 20537259 20539870 + 21467414 21470034 + 1580863;6480464 10681536;18676680;18328005;18279033;17786585;17550612;16344560;15489334;15342556;12477932;7751801;10477520;11590192;11831460;12002684;12730457;12748861;17473989;18326752;19170196;19625176;19692168;14612438;15146197;18385089;19598279;21508100;21603979;21947419;22079192;22209006 29986 Q9NP94 ABBA01061237;AF186081;AI382710;AK314974;AL161668;AL355922;AMYH01005593;AY029483;BC096723;BC098254;BC098274;BC110057;BP359281;CH471078;CN306082;D83039;DA871745;NG_017065;NM_001256588;NM_014579 AAF35832;AAH96723;AAH98254;AAI10058;AAK40258;BAA94313;BAG37473;EAW66431;NP_001243517;NP_055394;Q9NP94 Hs.175783 2109853;2139196 RH48291;SLC39A2_3817 6A1;Eti-1;MGC119190;ZIP-2;ZIP2;hZIP2 OTTHUMP00000164402;Zrt- and Irt-like protein 2;solute carrier family 39 member 2;zinc transporter ZIP2;zinc uptake transporter 2 APPROVED protein-coding ENSG00000165794 17127 15385 612166 REVIEWED 1322010 SLC39A3 solute carrier family 39 (zinc transporter), member 3 19 19 19 p13.3 2668859 2676411 - 2683522 2691074 - 2732522 2740074 - 1580863;6480464 19308021;18279033;17550612;15054103;14702039;14525987;12477932;10681536;9110174;8619474;21613827;21053094;21139048;22427155 29985 F5H385;K7EJZ1;K7ENJ1;Q9BRY0 ABBA01002766;ABBA01002767;AC006538;AF052125;AK002044;AK302600;AMYH01009291;BC000815;BC005869;BC017009;BC020571;BG719479;BQ898834;CH471139;NM_144564;NM_213568 AAH05869;AAH20571;BAG51005;BAG63850;EAW69369;EAW69370;NP_653165;NP_998733;Q9BRY0 Hs.515046 1677406 RH81024 ZIP3 ZIP-3;solute carrier family 39 member 3;zinc transporter ZIP3;zrt- and Irt-like protein 3 protein-coding ENSG00000141873 17128 15386 612168 VALIDATED 1312236 SLC39A6 solute carrier family 39 (zinc transporter), member 6 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 18 18 q12.2 31942492 31963355 - 33688494 33709357 - 1580863;6480464 19066393;18330719;17825787;17786585;15986450;15489334;15340161;12960427;12839489;12659941;12477932;11911440;2903103;19336002;17959546;19724917;19852955;19887557;17207965;22852056;15642354;21963094;23644492;21906983;22110740;22779921;22349685 25800 K7EQ91;Q13433 ABBA01022433;ABBA01022434;AC091060;AK299102;AK301539;AK304079;AMYH01008938;BC008317;BC039498;BX336036;CA443894;CH471088;CQ834422;DC369482;DC410860;DC414741;DR762943;NM_001099406;NM_012319;U41060 AAA96258;AAH08317;AAH39498;ADQ33084;BAG61161;BAG63038;BAG64986;CAH05426;EAX01371;EAX01372;NP_001092876;NP_036451;Q13433 Hs.79136 1851432 WI-14709 LIV-1 LIV-1 protein, estrogen regulated;ZIP-6;estrogen-regulated protein LIV-1;solute carrier family 39 (metal ion transporter), member 6;solute carrier family 39 member 6;zinc transporter ZIP6;zrt- and Irt-like protein 6 APPROVED protein-coding ENSG00000141424 18607 12285 608731 VALIDATED 1321159 SLC39A5 solute carrier family 39 (zinc transporter), member 5 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A5 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] 12 12 12 q13.3 56276713 56284524 + 54910894 54917897 + 56623820 56631630 + 6480464 16344560;15489334;15322118;14702039;12839489;12659941;12477932 283375 C9JB28;C9JIB2;C9JPS5;C9JPS6;C9JVC6;Q6ZMH5 ABBA01008412;AC073896;AK172768;AK298331;AK313188;AMYH01004502;BC027884;CH471054;DA640935;DA918133;NM_001135195;NM_173596 AAH27884;BAD18751;BAG36005;BAG60580;EAW96916;EAW96917;EAW96918;NP_001128667;NP_775867;Q6ZMH5 Hs.591018 1644667;1667185;1686054 RH70180;RH98394;SGC34394 LZT-Hs7;MGC34778;ZIP5 OTTHUMP00000211153;OTTHUMP00000211154;ZIP-5;solute carrier family 39 member 5;zinc transporter ZIP5;zrt- and Irt-like protein 5 APPROVED protein-coding ENSG00000139540 20502 608730 VALIDATED 1317894 SLC39A8 solute carrier family 39 (zinc transporter), member 8 This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] 4 4 4 q22-q24 100470678 100565146 - 103401844 103485371 - 103172198 103266655 - 1580863;6480464 18556457;18390834;18270315;16083285;14702039;12839489;12659941;12504855;12477932;19064571;19401385;20864672;20935630;22898811;22078303;20686565;21909110;21909115 64116 Q9C0K1 AB020969;AB020970;AB040120;ABBA01063698;AC098487;AF193052;AK027652;AK304274;AL049963;AMYH01014432;AP002023;BC001320;BC012125;BF000600;BI823248;CA438467;CH471057;DR006301;NM_001135146;NM_001135147;NM_001135148;NM_022154 AAG22480;AAH01320;AAH12125;ABM83138;ABM86333;BAA96442;BAB21559;BAB55268;BAG65135;EAX06129;EAX06130;EAX06131;EAX06132;NP_001128618;NP_001128619;NP_001128620;NP_071437;Q9C0K1 Hs.288034 1649142;1652698;1688933;1774555;1794592;2119597;2165417;2165419;2174312;5114349 A006D35;D4S2644;G20730;G34418;PMC321570P6;RH65581;RH78848;RH92985;SHGC-36631;SHGC-50443 BIGM103;LZT-Hs6;PP3105;ZIP8 BCG induced integral membrane protein BIGM103;BCG-induced integral membrane protein in monocyte clone 103 protein;LIV-1 subfamily of ZIP zinc transporter 6;OTTHUMP00000161761;OTTHUMP00000161762;OTTHUMP00000219647;ZIP-8;Zrt- and Irt-like protein 8;solute carrier family 39 (metal ion transporter), member 8;solute carrier family 39 member 8;zinc transporter ZIP8 APPROVED protein-coding ENSG00000138821 20862 12286 608732 REVIEWED 1315470 SLC39A4 solute carrier family 39 (zinc transporter), member 4 This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] 8 8 q24.3 145608606 145613081 - 145637798 145642273 - 1599005;6480464;7240710 12068297 18328205;18003899;17202136;16682017;16344560;15489334;14709598;14702039;14612438;12801924;12787121;12032886;12659941;12477932;20587610;19370757;19416242;19416256;19755388;20023433;20160059;20970119;16986515;20957146;20471814;21462106;21603979;21906983;22242765;11254458;12955721;16889938;17573886;18684156;18936158;19021533;20300938;20463217;21165302;21906148;23228939;21803616 55630 A6NDY5;E9PQ16;Q6P5W5 ABBA01005205;AC233992;AF205589;AK000334;AK000489;AK000695;AK025537;AK056900;AK290563;AMYH01019153;BC001688;BC033807;BC062625;BE798833;BI765535;CH471162;CQ834248;CQ834282;DA837547;DA915781;DC361959;NG_012234;NM_001280557;NM_017767;NM_130849 AAH01688;AAH62625;BAA91091;BAA91200;BAB15164;BAF83252;CAH05339;CAH05356;EAW82101;EAW82102;EAW82103;EAW82104;EAW82105;NP_001267486;NP_060237;NP_570901;Q6P5W5 Hs.521934 5022578;5024039 D16S325;D1S1423 AEZ;AWMS2;FLJ20327;MGC74741;ZIP4 OTTHUMP00000228914;OTTHUMP00000228915;ZIP-4;solute carrier family 39 member 4;zinc transporter ZIP4;zrt- and Irt-like protein 4 APPROVED protein-coding ENSG00000147804 17129 06137 201100;607059 REVIEWED 1322587 SLC39A9 solute carrier family 39, member 9 14 14 14 q24.1 49929546 49993246 + 68935704 68997021 + 69865096 69929107 + 6480464 18029348;19420709;14702039;12975309;12477932;8125298;17207965;19064571;21696611;15342556;16344560 55334 B4DDK0;C4N9M8;G3V5J8;M0QX28;Q9NUM3 AA884056;ABBA01030828;ABBA01030829;AK002136;AK025831;AK222547;AK293222;AK310285;AK316381;AL137760;AL157996;AMYH01005825;AY358687;AY780789;BC047682;BC062762;BC064383;BP269907;BP299863;BX643103;CH471061;DA112731;FJ423549;NM_001252148;NM_001252150;NM_001252151;NM_001252152;NM_018375 AAH47682;AAH64383;AAQ89050;AAV98359;ACR27086;ADQ32543;BAA92100;BAD96267;BAG56761;BAH14752;EAW80991;EAW80992;EAW80993;EAW80994;EAW80995;NP_001239077;NP_001239079;NP_001239080;NP_001239081;NP_060845;Q9NUM3 Hs.432690 1340612;1699274;1736462;1751625;2108927;2123260;2133295;2157059;5093520;5114550;5127436 A009Q09;D14S554;D14S716E;G32766;G35547;G35877;G36004;RH103219;RH70513;SHGC-105597;SLC39A9_8061 FLJ11274;MGC74989;ZIP-9;ZIP9 OTTHUMP00000245511;OTTHUMP00000245512;OTTHUMP00000245513;OTTHUMP00000245514;ZIP-9;zinc transporter SLC39A9;zinc transporter ZIP9;zrt- and Irt-like protein 9 APPROVED protein-coding ENSG00000029364 20182 15387 VALIDATED 1344767 SLC39A7 solute carrier family 39 (zinc transporter), member 7 The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 p21.3 33276581 33280192 + 33168603 33172214 + 1580863;6480464 17353931;8812499;19246244;19023099;18583420;17975119;16344560;16083285;15705588;15489334;14574404;14525538;12839489;12477932;8125298;1855816;19913121;20587610;20602615;20628086;19615732;19851445;18781797;21139048;21906983;22317921;15576338;21963094;21988832;23455922 7922 A2AAT0;Q92504 ABBA01038138;AF117221;AK225282;AK225682;AK301126;AK303158;AL031228;AL645940;AL662824;AL844527;AMYH01016242;BC000645;CH471081;CR354565;CR759733;CR759786;CR847841;CR936877;D82060;DA573310;DR158641;M58660;NG_023374;NM_001077516;NM_006979 AAA63219;AAD12305;AAH00645;ABM82855;ABM86042;BAA11528;BAG62720;BAG64260;CAA20238;EAX03680;EAX03681;NP_001070984;NP_008910;Q92504 Hs.631995 1794594;2157964;2189435;2218010 MARC_5891-5892:991939781:1;PMC321570P8;RH66534;SLC39A7_3898 D6S115E;D6S2244E;H2-KE4;HKE4;KE4;RING5;ZIP7 HLA class II region expressed gene KE4;Ke4 gene, mouse, human homolog of;OTTHUMP00000029348;OTTHUMP00000029349;histidine-rich membrane protein Ke4;really interesting new gene 5 protein;solute carrier family 39 member 7;zinc transporter SLC39A7 APPROVED protein-coding ENSG00000112473 4927 09028 601416 REVIEWED 1345624 SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 2 2 p16.3 44356103 44401448 + 44502597 44547963 + 1600015;1580863;6480464;7240710 8054986 7573036;18778962;18752446;18332091;18234729;17010017;16358225;16138908;15913950;15818802;15818801;15818800;15815621;15691362;15635077;15489334;14991253;14702039;14561219;14531788;12820697;12477932;12372889;12239244;12234283;12167606;12060600;11748844;11458794;11318953;10799513;10588648;10574970;9186880;8663184;8486766;8125298;7789946;7686906;7575432;7568194;7539209;18195088;19782624;20146678;20800603;21255007;22796000 6519 B8ZZK1;B8ZZP2;C9JBK3;E7ENC4;E9PC38;Q07837;Q4J6B5;Q4J6B6;Q4J6B8 AB033549;ABBA01075106;ABBA01075107;AC013717;AK091932;AK092000;AK223146;AK289636;AK309145;AK313157;AMYH01010305;BC022386;BC093624;BC093626;CH471053;DQ023512;DQ023513;DQ023514;DQ023515;DQ023516;DQ023517;L11696;M95548;NG_008233;NM_000341;U60819 AAA35500;AAA81778;AAB39829;AAH22386;AAH93624;AAH93626;AAX88955;AAY89643;AAY89644;AAY89645;AAY89646;AAY89647;AAY89648;ABM82957;ABM86148;BAB16841;BAD96866;BAF82325;BAG35975;BAG52443;EAX00278;EAX00279;NP_000332;Q07837 Hs.112916 1649716;1676978;1727203;1743465;1745883;1745885;1745887;1745891;1745893;1778605;2165488;2180424;5107048;5107050;5107052 D2S2562;D2S2945;D2S2946;D2S2947;G62856;GDB:335819;GDB:681418;GDB:681433;GDB:681454;GDB:681472;GDB:681483;RH12757;RH19832;RH69205;RH94171 ATR1;CSNU1;D2H;FLJ34681;NBAT;RBAT B(0,+)-type amino acid transport protein;OTTHUMP00000158957;OTTHUMP00000202385;OTTHUMP00000202387;OTTHUMP00000202388;OTTHUMP00000202389;SLC3A1 variant B;SLC3A1 variant C;SLC3A1 variant D;SLC3A1 variant E;SLC3A1 variant F;SLC3A1 variant G;amino acid transporter 1;neutral and basic amino acid transport protein rBAT;solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1 APPROVED protein-coding 11025 00090 104614;220100 REVIEWED 1322838 SLC41A1 solute carrier family 41 (magnesium transporter), member 1 1 1 1 q32.1 178894473 178918404 - 204024844 204048784 - 205758221 205782161 - 6480464 18367447;15713785;14702039;12810078;21738487;20683486;21812739;12477932;19915576;23661805;21696366;22031603;21890473;19322201;23269536 254428 B2RMP2;B3KWH2;Q8IVJ1 ABBA01027405;ABBA01027406;AC119673;AJ514402;AK092123;AK093254;AK125075;AK128069;AK314732;AL831974;AL832001;AL832362;AMYH01001675;BC136303;BX641054;BX648979;CH471067;NM_173854 AAI36304;BAG54134;BAG54625;CAD58404;CAE46028;CAH56135;CAH56211;CAH56213;CAH56217;EAW91582;EAW91583;NP_776253;Q8IVJ1 Hs.20274 1659885;1721097;2124641;2172764;2172857 D1S2156;G59533;SHGC-76224;SHGC-76236;SHGC-76247 MgtE OTTHUMP00000034231;solute carrier family 41 member 1;solute carrier family 41, member 1 APPROVED protein-coding ENSG00000133065 19429 15388 610801 VALIDATED 1316398 SLC41A2 solute carrier family 41 (magnesium transporter), member 2 12 12 12 q23.3 104861914 104987145 - 103722491 103846562 - 105197275 105322472 - 6480464 16344560;15809054;14702039;12810078;12477932;11230166;17207965;23000965 84102 C9J2P6;C9JA64;C9JCR2;C9JDQ2;C9JIL4;C9JKF2;C9JYJ7;H7BZT9;Q96JW4 ABBA01053191;AC089985;AK027838;AL136828;AMYH01004718;AW016390;BC036734;BC106871;BC106872;CH471054;DA050789;NM_032148 AAH36734;AAI06872;AAI06873;ACE86974;ADQ32853;BAB55402;CAB66762;EAW97752;EAW97753;NP_115524;Q96JW4 Hs.577463 1669747;1746383;2108501;2130811;2176456 D12S1826;D12S1844;G64583;SLC41A2_8112;WI-11905 DKFZp434K0427;MGC125330;MGC125331;SLC41A1-L1 OTTHUMP00000211172;SLC41A1-like 1;solute carrier family 41 member 2 APPROVED protein-coding 31045 15389 610802 VALIDATED 1343810 SLC41A3 solute carrier family 41, member 3 3 3 3 q21.2 124148794 124244070 - 127207890 127285824 - 125725200 125820391 - 1580863;6480464 15302935;14702039;12810078;12477932;10737800;21832049;21900206;21906983 54946 D3DNA7;D6R925;D6R9M9;D6R9S7;D6R9X6;D6RC02;D6RDB0;D6RDM3;D6RF72;D6RHE3;D6RJC0;E7ENY4;Q9HAB1 ABBA01016395;ABBA01016396;ABBA01016397;ABBA01016398;ABBA01016399;AC079848;AC092903;AC117422;AI814125;AK000480;AK021925;AK022780;AK091671;AK093380;AK094051;AK128054;AK298070;AK307107;AL560923;AMYH01013447;AW614139;AW938624;BC009039;BC009444;BC028241;BC035753;BM547018;BQ777605;CD300027;CH471052;CQ834870;NM_001008485;NM_001008486;NM_001008487;NM_001164475;NM_017836 AAH09039;AAH28241;BAA91192;BAB13938;BAB14241;BAC03717;BAG52701;BAH12718;CAH05650;EAW79374;EAW79375;EAW79376;EAW79377;NP_001008485;NP_001008486;NP_001008487;NP_001157947;NP_060306;Q96GZ6 Hs.573007 1675423;1764907;1787670;1853814;2109855;2138848;2147117 D3S3078;RH47414;RH80252;SHGC-148468;SHGC-156151;SHGC-77304;SLC41A3_8057 FLJ20473;SLC41A1-L2 OTTHUMP00000222516;OTTHUMP00000222518;OTTHUMP00000222720;OTTHUMP00000222721;OTTHUMP00000222889;SLC41A1-like 2;solute carrier family 41 member 3 protein-coding ENSG00000114544 31046 11580 610803 VALIDATED 733072 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] 2 2 q32 190133561 190153858 - 190425316 190445537 - 6480464;7240710 12873829;12865285;12857562;12730114;12477932;12406098;12376346;12161425;12123233;12091367;12091366;11925460;11897618;11783942;11774199;11518736;11431687;11256614;11230166;11076863;10882071;10828623;8125298;10747949;10693807;19150361;19066423;18820912;18782341;18680715;18586377;18177470;18160816;18160317;17997113;17847004;17490902;17486601;17475779;17383046;17276706;17135308;17042772;16885049;16648237;16381901;16351644;16344560;16330432;16280445;15956209;15942076;15935710;15897636;15894659;15831700;15727899;15692071;15514116;15489336;15489334;15466004;15338274;15075083;14768003;14757427;14702039;14636643;14636642;22246570;18646536;20230395;19759876;20691492;20655381;20587610;20739079;16274220;20688958;16169070;19234114;19589941;19610021;19709084;19787796;19846751;19937651;19958990;20007457;20460119;20686179;21396368;21126372;21094556;21199650;20564534;21303654;22137264;21231898;22357659;22170436;23630227;21607294;22178646;22249207;21890473;22682226;22682227;23178444;23335088;22776295;22890139;23012398 30061 E7EQF8;E7ES28;Q4PNE6;Q9NP59 ABBA01062379;AC013439;AF147322;AF171087;AF215636;AF226614;AF231121;AJ609539;AJ609540;AK002038;AK223236;AK292146;AK314827;AL136944;AMYH01011343;BC035893;BC037733;CH471058;CQ977117;CR533564;DA806565;DQ065759;DQ065760;DQ065761;DQ065763;DQ065764;NG_009027;NM_014585 AAF36697;AAF44330;AAF80986;AAH35893;AAH37733;AAQ13603;AAX93082;AAY78556;AAY78557;AAY78558;AAY78560;AAY78561;ABM81806;ABM84960;BAA92049;BAD96956;BAF84835;BAG37348;CAB66878;CAE81347;CAE81348;CAG38595;CAI45360;CAL38155;EAX10901;EAX10902;NP_055400;Q9NP59 Hs.643005 1643848;1793322;1849552;2108929;2123758;2134097;2137249;2148581;2151865;2173471;5093820 A002Q39;A009X19;D2S2575;G32943;PMC209405P1;RH16273;RH36364;SGC34910;SLC40A1_8028;STS-AA011593;WI-16551 FPN1;HFE4;IREG1;MST079;MSTP079;MTP1;SLC11A3 OTTHUMP00000163497;OTTHUMP00000207310;ferroportin 1;ferroportin-1;iron regulated gene 1;iron-regulated transporter 1;putative ferroportin 1 variant IIIB;solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3;solute carrier family 39 (iron-regulated transporter), member 1;solute carrier family 40 member 1 APPROVED protein-coding ENSG00000138449 10909 05229 604653;606069 REVIEWED 1350504 SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 System L amino acid transporters, such as SLC43A2, mediate sodium-independent transport of bulky neutral amino acids across cell membranes (Bodoy et al., 2005 [PubMed 15659399]).[supplied by OMIM, Mar 2008] 17 17 17 p13.3 1493130 1547478 - 1424446 1478880 - 1477696 1532130 - 6480464 16303743;15659399;19322201;12477932;19913121;20628086;18195088;20379614;21963094;23268354;21987572;21906983 124935 B7Z6X9;G8JLH5;I3L3E3;I3L4J2;I3L4V3;Q8N370 AB120364;ABBA01054667;ABBA01054668;ABBA01054669;AC130343;AF289592;AK074428;AK075068;AK075173;AK075196;AK301127;AMYH01008000;BC019562;BC027923;BC071859;BK005642;CH471108;NM_152346 AAH19562;AAH27923;AAH71859;AAL55776;BAC11383;BAC11450;BAC11464;BAD91091;BAH13415;DAA05676;EAW90601;EAW90602;EAW90603;EAW90604;EAW90605;EAW90606;EAW90607;NP_689559;Q8N370 Hs.160550 1341713;1769124 D16S3107;STS-F09512 FLJ23848;LAT4;MGC34680 L-type amino acid transporter 4;OTTHUMP00000115403;amino acid transporter;large neutral amino acids transporter small subunit 4 APPROVED protein-coding ENSG00000167703 23087 15390 610791 PROVISIONAL 1317883 SLC43A1 solute carrier family 43 (amino acid system L transporter), member 1 SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008] 11 11 11 q12.1 54608562 54639686 - 57008583 57039735 - 57252004 57283192 - 1580863;6480464 12930836;15489334;14702039;12477932;11956097;9722952;9255310;972295;18195088;8889549;21906983;21963094;23000965 8501 E9PJ68;E9PJT8;E9PKZ5;E9PR87;E9PRF0;H0YEH0;O75387 AA040589;AB103033;ABBA01021474;AF045584;AK027732;AMYH01003652;AP002893;BC001639;BM147085;BQ029981;CH471076;NM_001198810;NM_003627 AAC33004;AAH01639;BAD00152;BAG51373;EAW73749;EAW73750;EAW73751;EAW73752;NP_001185739;NP_003618;O75387 Hs.591952;Hs.735724 1671852;1855708;2107607;2146013;2162074 RH11621;RH16439;SLC43A1_7921;WI-17004;WI-18571 LAT3;PB39;POV1;R00504 L-type amino acid transporter 3;OTTHUMP00000234819;OTTHUMP00000234820;large neutral amino acids transporter small subunit 3;prostate cancer overexpressed gene 1 protein APPROVED protein-coding ENSG00000149150 9225 07227 603733 VALIDATED 735716 SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010] 11 11 q13 62380094 62412929 + 62623484 62656355 + 1580863;6480464 21145461;21757542;15489334;15485886;15458438;15274339;15178563;15146197;14702039;14527684;12925876;12754519;12740424;12716892;12531285;12477932;12270127;12235164;12181350;11840567;11749697;11742812;11696247;11507094;11435306;11406111;11311135;10574970;9878049;9829974;9751058;9110174;8938448;8619474;8125298;7204970;6190235;6187076;6177771;3782435;3480538;3265471;3265470;2416754;1358795;7561057;9403839;8922468;17353931;15782160;10673541;10506149;10631289;3036867;3476959;12493773;19065266;19018776;18813831;18660501;18054915;18032696;17724034;17611393;17558306;17451431;17081983;17081065;17023546;16785209;16344560;16335952;15713750;15625115;15556631;19913121;20628086;21352957;21270293;10863037;10903140;15901826;16799092;18195088;19171406;19562367;19777189;19808856;19922591;20091333;16712791;20811665;21282044;22499670;16196087;21486766;21670318;22939629;22360420;21750865;21252943;18781797;20972266;21139048;21693764;21890473;21906983;21963094;21987572;22118674;22077314;22291182;22234250;19738201;19805454;22304920;23000965;23297381;23383273;23438482;22678362;23272174;22053931;22505724;22797925 6520 F5GZI0;F5GZR9;F5GZS6;F5H056;F5H0E2;F5H867;H0YFS2;H0YFX4;H0YH36;J3KPF3;P08195 AA594112;AB018010;ABBA01003246;ABBA01003247;ABBA01003248;ABBA01003249;AF055031;AK025584;AK090758;AK094620;AK225304;AK304497;AK304685;AK308797;AK311592;AMYH01003691;AP001160;AU143131;BC001061;BC003000;BE018712;BQ128156;BU556953;BX362778;BX443653;CA453972;CB138799;CB151304;CH471076;CN302816;DC395235;J02769;J02939;J03569;M21904;NM_001012662;NM_001012664;NM_001013251;NM_002394;NR_037193 AAA35489;AAA35536;AAA51540;AAA52497;AAH01061;AAH03000;ACE87015;ACE87703;BAA84649;BAG65305;BAG65456;EAW74118;EAW74119;EAW74120;EAW74121;EAW74122;EAW74123;NP_001012680;NP_001012682;NP_001013269;NP_002385;P08195 Hs.502769 1685686;1742525;1769866;1852894;2132004;2155957;2183810;2219698 AF081279;D11S1010;G15889;GDB:197851;MDU1;RH17582;RH98739;SLC3A2_2672 4F2;4F2HC;4T2HC;CD98;CD98HC;MDU1;NACAE 4F2 cell-surface antigen heavy chain;4F2 heavy chain antigen;CD98 heavy chain;OTTHUMP00000082735;OTTHUMP00000236708;OTTHUMP00000236709;OTTHUMP00000236712;OTTHUMP00000238367;antigen defined by monoclonal antibody 4F2, heavy chain;antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43;heavy chain;lymphocyte activation antigen 4F2 large subunit;monoclonal antibody 44D7;solute carrier family 3, member 2 APPROVED protein-coding ENSG00000168003 11026 01148 158070 REVIEWED 731828 SLC45A1 solute carrier family 45, member 1 1 1 1 p36.23 7492236 7512007 + 8306977 8326814 + 8384390 8404227 + 1580863;6480464 16710414;10729226;22321011;23453885 50651 Q9Y2W3 ABBA01035514;AF118274;AL356072;AMYH01000225;CH471130;NM_001080397 AAD27583;AAI56141;AAI56981;EAW71597;NP_001073866;Q9Y2W3 Hs.463036 1707700;1750599;2106469;2181632 DNB5__4762;RH36035;SHGC-111898;SHGC-82023 DNB5;FLJ26758;KIAA0458 DNb-5;H+/sugar symporter;OTTHUMP00000000552;PAST-A;deleted in neuroblastoma 5 protein;proton-associated sugar transporter A protein-coding ENSG00000162426 17939 605763 PROVISIONAL 1323779 SLC43A3 solute carrier family 43, member 3 11 11 11 q11 54531012 54551638 - 56931003 56951629 - 57174427 57195053 - 6480464 16303743;12477932;11704567;7531438;21890473;21906983;22412388;21963094;21987572;21988832;23000965;22505724 29015 E7EQD2;E9PJL1;E9PJL3;E9PJT6;E9PKW3;E9PL23;E9PLF2;E9PLP1;E9PLW1;E9PMZ1;E9PNM4;E9PPE4;E9PR64;E9PR94;E9PS74;E9PSH9;H0YD64;Q8NBI5 AB028927;ABBA01021471;AF118070;AK075552;AK290391;AK298028;AK300977;AK311394;AK311401;AK315839;AL157431;AMYH01003652;AP000781;BC003163;BC064137;BG391025;CH471076;CQ834210;CR457391;DC347054;HY120731;NM_001278201;NM_001278206;NM_014096;NM_017611;NM_199329 AAF22014;AAH03163;ACE86870;ACE87558;BAB82466;BAC11695;BAF83080;BAF98730;BAG60330;BAG62599;CAB75655;CAG33672;CAH05320;EAW73741;EAW73742;EAW73744;EAW73745;EAW73746;NP_001265130;NP_001265135;NP_054815;NP_060081;NP_955361;Q8NBI5 Hs.99962 1774075;1774077;1856867;5019709;5491529 A009H48;G32558;MARC_17103-17104:1023890756:1;RH47191;SGC32746 DKFZp762A227;EEG1;FOAP-13;PRO1659;SEEEG-1 OTTHUMP00000235049;OTTHUMP00000235050;OTTHUMP00000235051;OTTHUMP00000235120;OTTHUMP00000235121;OTTHUMP00000235122;likely ortholog of mouse embryonic epithelial gene 1;solute carrier family 43 member 3 protein-coding ENSG00000134802 17466 15391 VALIDATED 1352703 SLC44A1 solute carrier family 44 (choline transporter), member 1 9 9 q31.2 107046750 107193503 + 108006929 108153682 + 632580;1580863;6480464 10677542 19357133;16609143;16319125;15715662;15691711;15489334;15164053;14702039;12477932;11698453;20410607;19448620;19519661;17192395;21185344;21900206;21987572;21139048;21906983;19322201;21963094;22483272;22505724 23446 H9KV47;Q8WWI5 ABBA01042816;ABBA01042817;AJ245620;AJ272365;AJ420812;AK000109;AK022549;AK124926;AL161627;AL450265;AL590368;AMYH01021600;AMYH01021601;AMYH01021602;BC018213;BC049203;CD101684;CH471105;NM_080546 AAH18213;AAH49203;BAG51089;BAG54114;CAB75541;CAC82175;CAD12764;EAW58995;EAW58996;EAW58997;EAW58998;EAW58999;NP_536856;Q8WWI5 Hs.573495 1341156;1656613;1678051;1689356;1699104;1722853;2110311;2118935 CDW92_9350;D9S1784;G60369;RH103128;RH79975;RH80136;SGC38127;WI-17320 CD92;CDW92;CHTL1;CTL1;RP11-287A8.1 CD92 protein;CDW92 antigen;OTTHUMP00000021836;OTTHUMP00000021837;OTTHUMP00000021838;OTTHUMP00000021839;choline transporter-like protein 1 APPROVED protein-coding 18798 16197 606105 VALIDATED 1602189 SLC44A3 solute carrier family 44, member 3 1 1 1 p21.3 93540360 93615267 + 95058765 95133197 + 95285898 95360803 + 6480464 16710414;16344560;15715662;15489334;12975309;12477932;10677542;20379614;19850743;21906983;22238593 126969 E9PIC5;F8W7F3;H0YD35;H0YDW5;Q9BWY7 ABBA01045503;AC093429;AK300193;AK301288;AK302381;AK303906;AK313574;AK316123;AL359554;AL530322;AL540829;AMYH01000810;AY358659;BC033858;BC040448;BC053877;BX648225;CH471097;DA538278;DB331517;DC311042;NM_001114106;NM_001258340;NM_001258341;NM_001258342;NM_001258343;NM_152369 AAH33858;AAH53877;AAQ89022;ADR82679;BAG61966;BAG62846;BAG63698;BAG64836;BAH14494;CAC36091;EAW73030;EAW73031;EAW73032;EAW73033;EAW73034;EAW73035;EAW73036;EAW73037;EAW73038;NP_001107578;NP_001245269;NP_001245270;NP_001245271;NP_001245272;NP_689582;Q8N4M1 Hs.483423 1709000;1755433;1788412 SHGC-142306;SHGC-79565;fb74a12.x1 CTL3;MGC45474 OTTHUMP00000012419;OTTHUMP00000012421;OTTHUMP00000228722;OTTHUMP00000228723;OTTHUMP00000228724;OTTHUMP00000228726;choline transporter-like protein 3;solute carrier family, member 3 protein-coding ENSG00000143036 28689 14637 VALIDATED 1601745 SLC44A2 solute carrier family 44 (choline transporter), member 2 19 19 p13.1 10597229 10616232 + 10713121 10755235 + 6480464 10677542;12761501;18029348;17926100;16344560;16303743;15715662;15489334;14973250;14702039;12477932;9110174;8619474;22211383;22040064;20037594;20040764;20665236;21048031;20410607;22414054;21564101;21906983 57153 K7EKB7;K7EMN3;K7EMR2;K7EPV6;K7ER17;K7ESF5;K7ESP7;Q8N2F0 ABBA01029908;ABBA01029909;ABBA01029910;AC011475;AF070636;AF258549;AJ245621;AK027519;AK075512;AK126550;AK294118;AK309801;AK314582;AL832517;AL832978;AMYH01009478;BC010617;BC020511;BC040556;BC042692;BI602883;CH471106;DA628435;DA673268;DA749803;FN668568;NM_001145056;NM_020428 AAG23752;AAH10617;AAH40556;BAC11662;BAG37158;BAG51335;BAG54343;BAG57451;CAB75542;CAH56342;CAH56352;CBJ93592;EAW84126;EAW84127;EAW84128;EAW84129;NP_001138528;NP_065161;Q8IWA5 Hs.534560 1652218;1658525 STS-R73494;STS-W46600 CTL2;DKFZp666A071;FLJ44586;PP1292 choline transporter-like protein 2;solute carrier family 44, member 2 APPROVED protein-coding ENSG00000129353 17292 16198 606106 VALIDATED 1315452 SLC45A2 solute carrier family 45, member 2 This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 5 5 p13.2 33980478 34020537 - 33944721 33984780 - 1580863;6480464;7240710 19384953;19340012;19060277;18986462;18806926;18683857;18650849;18563784;22464347;18483556;18463683;18326704;17999355;17768386;17516931;17358008;17081065;17044855;16868655;16847698;15714523;15656822;15489334;15455243;14961451;14722913;12477932;11916009;11574907;11479596;11221837;17207965;20381161;20457063;19578363;19710684;19865097;19916045;19913121;20585627;20628086;20301683;21287499;20861488;21677667;21559390;22042571;22490798;21983787;22294196;23190901;23165166 51151 C9JK74;D6RBP8;D6RGY6;Q9UMX9 ABBA01066761;AC139777;AC139783;AF172849;AMYH01015007;AMYH01015008;BC003597;BC064405;BQ677785;BU166522;CH471118;NG_011691;NM_001012509;NM_016180 AAD51812;AAH03597;AAH64405;ADQ32605;EAX10811;EAX10812;EAX10813;EAX10814;NP_001012527;NP_057264;Q9UMX9 Hs.278962 1663584;1757993;1760257;1774873;1781094;2158882;2176477;7186223 D5S1430;RH16380;SHGC-132566;SHGC-147068;SHGC-36018;SHGC-56588;STS-N23139 1A1;AIM1;MATP;OCA4;SHEP5 OTTHUMP00000115892;OTTHUMP00000155209;OTTHUMP00000221214;OTTHUMP00000221215;melanoma antigen AIM1;membrane associated transporter;membrane-associated transporter protein;protein AIM-1;underwhite APPROVED protein-coding ENSG00000164175 16472 05865 227240;606202;606574 REVIEWED 1346444 SLC45A3 solute carrier family 45, member 3 1 1 q32.1 203893604 203916253 - 205626981 205649630 - 61503;1580863;6480464 10613842 19136943;18193184;18172298;17721190;16344560;15489334;14997204;12477932;11245466;21738478;15048720;15176054;19649210;19915576;20118910;22719019;21777423;23269536;22821757 85414 A8K2U9;Q96JT2 ABBA01027407;ABBA01027408;AC096533;AK290364;AK313479;AL832933;AMYH01001674;AY033593;BC050416;CH471067;DA759616;JA897589;NM_033102 AAH50416;AAK54386;BAF83053;BAG36263;CAH56282;CCV01468;EAW91575;EAW91576;EAW91577;NP_149093;Q96JT2 Hs.278695 1692610 AL033941 IPCA-2;IPCA-6;IPCA-8;IPCA6;PCANAP2;PCANAP6;PCANAP8;PRST OTTHUMP00000035340;prostate cancer associated protein 2;prostate cancer associated protein 6;prostate cancer associated protein 8;prostate cancer-associated gene 2;prostate cancer-associated gene 6;prostate cancer-associated gene 8;prostate cancer-associated protein 6;prostein;solute carrier family 45 member 3 protein-coding ENSG00000158715 8642 16312 605097 VALIDATED 1349303 SLC44A4 solute carrier family 44, member 4 The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 6 6 6 p21.3 33429555 33445404 - 31938948 31954802 - 31830969 31846823 - 632580;6480464 10677542 16344560;15715662;15489334;14702039;14656967;14574404;12975309;12477932;12067718;8125298;19448619;19851445;20466734;20526339;20421499;22789125 80736 H0Y5I3;Q5JQ93 ABBA01038091;AF134726;AI560195;AI956094;AK027397;AK222998;AK223013;AK300550;AK301596;AK314673;AL662834;AL671762;AL833009;AL844853;AMYH01016220;AY358457;BA000025;BC014659;BX005460;CH471081;CR388202;CR759784;CR936237;DA924720;DC300771;DC392935;NG_023058;NM_001178044;NM_001178045;NM_025257 AAD21813;AAH14659;AAQ88822;BAB55083;BAB63296;BAD96718;BAG62256;BAG63084;CAH56275;EAX03538;EAX03539;NP_001171515;NP_001171516;NP_079533;Q53GD3 Hs.335355 1739635;1848460;1856514;1856516;2106217;2115118;2134988;2189557;2191011;2220320;5015961;5021692;5037552 D15S1477;D15S948E;D6S2052;D6S2924;D8S2279;MARC_12895-12896:999881472:3;MN6S1424;RH46780;RH70238;STS-X69838;UniSTS:237636;WI-19170;ksks210 C6orf29;CTL4;FLJ14491;NG22 OTTHUMP00000029182;OTTHUMP00000029183;choline transporter-like protein 4;chromosome 6 open reading frame 29 APPROVED protein-coding ENSG00000204385 13941 12087 606107 REVIEWED 1604721 SLC44A5 solute carrier family 44, member 5 1 1 1 p31.1 73913149 74316659 - 75444868 75849359 - 75667816 76076799 - 6480464 16344560;15715662;15489334;14702039;12477932;21116278;20379614;22864933 204962 B7Z473;Q8NCS7 ABBA01074420;ABBA01074421;ABBA01074422;AC093156;AC107627;AC118550;AC118990;AK091400;AK093170;AK128063;AK296924;AK296941;AK299573;AL096829;AMYH01000712;AMYH01000713;BC028743;BC034580;BC051740;CH471059;CS223377;DA534406;DA778954;DB450780;DC374918;NM_001130058;NM_152697 AAH28743;AAH34580;AAH51740;ABM83384;ABM86596;BAC03655;BAC04084;BAH12456;BAH12459;BAH13070;CAJ46928;EAX06402;EAX06403;NP_001123530;NP_689910;Q8NCS7 Hs.654821 1336002;1339682;1679307;1691986;1703834;1731188;1769198;1781382;1782368;1879836;2139896;2162725;2169173;2176395;2179050;5093238;7186517 A009K04;AFM294wg1;AL033645;D1S333;D1S464;D1S481;G32601;G34832;REN10606;RH64655;RH70455;SHGC-106433;SHGC-152136;SHGC-33741;SHGC-79068;WI-15157 CTL5;FLJ34081;MGC34032 OTTHUMP00000011292;OTTHUMP00000011329;choline transporter-like protein 5 protein-coding ENSG00000137968 28524 14580 VALIDATED 1607016 SLC45A4 solute carrier family 45, member 4 8 8 8 q24.3 138389005 138406794 - 142290052 142307855 - 142220870 142238673 - 6480464 10574461;12477932;21906983 57210 E5RGN5;E5RJM7;E7EV90;J3KQI8;Q5BKX6 AB032952;ABBA01013683;AC011676;AK128212;AL137490;AL713711;AMYH01019072;BC007262;BC033223;BC090891;BC157840;BC171836;CH471060;NM_001080431 AAH33223;AAH90891;AAI57841;AAI60000;BAA86440;BAC87328;EAW92222;EAW92224;NP_001073900;Q5BKX6 Hs.372492 1684244;1771771;1848557;2117868 RH93689;SGC32017;STS-N29778;WI-18501 KIAA1126 OTTHUMP00000226604;OTTHUMP00000226789;OTTHUMP00000226790;solute carrier family 45 member 4 protein-coding ENSG00000022567 29196 PROVISIONAL 1604345 SLC48A1 solute carrier family 48 (heme transporter), member 1 12 12 12 q13.11 46964517 46974086 + 46453258 46461720 + 48166967 48176536 + 6480464 18418376;12477932;19322201;19913121;20628086;19875448;21555518;21832049;22174408;23263486 55652 F8VQX9;F8VXV4;F8W1R8;Q6P1K1 ABBA01031468;AC004466;AK000496;AK025856;AK294075;AMYH01004427;BC002759;BC011823;BC026344;BC065033;BI548780;CH471111;NM_017842 AAH02759;AAH26344;AAH65033;BAA91205;BAG57417;EAW57950;EAW57951;NP_060312;Q6P1K1 Hs.438867 1681925;2128171;5017433 RH93449;STS-H18096;STS-T76997 FLJ20489;HRG-1;HRG1;hHRG-1 OTTHUMP00000211237;heme transporter HRG1;heme-responsive gene 1 protein homolog;solute carrier family 48 member 1 protein-coding ENSG00000211584 26035 07916 612187 VALIDATED 1605371 SLC47A1 solute carrier family 47 (multidrug and toxin extrusion), member 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] 17 17 p11.2 19377759 19422938 + 19437167 19482346 + 6480464 19228809;19172157;18305230;17855482;17509534;17495125;17047166;16996621;16928787;16330770;14702039;12477932;11997338;8125298;20047987;19158817;19536068;19745787;19898263;20016398;20053795;20067714;20682687;21128598;23267855;22242910;22735389;22569819;22882994;22722930 55244 B4DYV3;E7EX57;I3L345;J3KRZ3;J3KSS8;Q96FL8 ABBA01054603;ABBA01054604;AC025627;AK001709;AK222625;AK225360;AK293196;AK298254;AK301854;AK302620;AK304647;AK310270;AMYH01008235;BC010661;BC050592;BC058882;CH471212;NM_018242 AAH10661;AAH50592;AAH58882;BAA91852;BAD96345;BAG56736;BAG60519;BAG63296;BAG63865;BAG65424;EAW50893;EAW50894;EAW50895;NP_060712;Q96FL8 Hs.232054 2137633;5022651 D11S2921;STS-W85883 FLJ10847;MATE1;MGC64822 MATE-1;OTTHUMP00000065792;OTTHUMP00000065793;hMATE-1;multidrug and toxin extrusion 1;multidrug and toxin extrusion protein 1 APPROVED protein-coding ENSG00000142494 25588 07703 609832 VALIDATED 1606669 SLC46A3 solute carrier family 46, member 3 13 13 13 q12.3 10349991 10368926 - 28172217 28190962 - 29274217 29293150 - 6480464 19284880;16344560;14702039;12477932;8889548;20708005;23251661 283537 Q7Z3Q1 ABBA01035723;AF315594;AK093932;AK098426;AK124604;AL359454;AMYH01004994;BC036662;BC060850;BC068556;BX537565;CB851220;CD237026;CH471075;DA496545;DB073710;NM_001135919;NM_181785 AAH36662;AAH60850;AAH68556;AAL18405;BAC85896;BAG52789;CAD97783;EAX08436;EAX08437;EAX08438;NP_001129391;NP_861450;Q7Z3Q1 Hs.117167 1681207;1762081;5037552 D8S2279;RH93198;SHGC-145990 FKSG16;FLJ42613;RP11-97E23.2 OTTHUMP00000018184;OTTHUMP00000178553;solute carrier family 46 member 3 protein-coding ENSG00000139508 27501 14146 VALIDATED 1321413 SLC46A2 solute carrier family 46, member 2 9 9 9 q32 86314093 86326088 + 114681021 114692866 - 115641200 115653193 - 6480464 10978518;18392855;16344560;15489334;14702039;10706709;12826694;12477932;17207965 57864 Q9BY10 ABBA01042692;AF242557;AK055571;AK314414;AL139041;AMYH01021655;BC048285;CH878453;DA593062;NM_033051 AAH48285;AAK28343;ADQ33085;BAB70960;BAG37035;EAW50550;EAW50551;EAW50552;NP_149040;Q9BY10 Hs.512668 Ly110;TSCOT OTTHUMP00000021945;thymic stromal co-transporter;thymic stromal cotransporter homolog protein-coding ENSG00000119457 16055 16411 608956 VALIDATED 1603576 SLC47A2 solute carrier family 47 (multidrug and toxin extrusion), member 2 This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16994973 17033389 - 19522220 19560635 - 19581628 19620043 - 6480464 17509534;16996621;16807400;16330770;14702039;12477932;11181995;8889548;19158817;20016398;20067714;20379614;20047987;22558177;16344560;23267855 146802 C9JAE6;Q86VL8 AB250364;AB250701;ABBA01054597;ABBA01054598;ABBA01054599;AC005722;AK055758;AK096080;AK123589;AK307647;AK310218;AMYH01008238;BC035288;BC050578;BC062614;BG432484;BM924669;BM930596;BX648861;CH471212;DA312379;NM_001099646;NM_001256663;NM_152908 AAH35288;AAH50578;BAF36847;BAF37007;CAH56154;EAW50901;EAW50902;EAW50903;EAW50904;EAW50905;EAW50906;EAW50907;NP_001093116;NP_001243592;NP_690872;Q86VL8 Hs.126830 FLJ31196;MATE2;MATE2-B;MATE2-K;MATE2K H+/organic cation antiporter;MATE-2;OTTHUMP00000065788;OTTHUMP00000065789;OTTHUMP00000065790;OTTHUMP00000065791;hMATE-2;kidney-specific H(+)/organic cation antiporter;multidrug and toxin extrusion 2;multidrug and toxin extrusion protein 2 APPROVED protein-coding ENSG00000180638 26439 08710 609833 VALIDATED 1606750 SLC46A1 solute carrier family 46 (folate transporter), member 1 This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] 17 17 q11.2 23745788 23757355 - 26721661 26733230 - 6480464;7240710;7242557;7242426 22108709;20814827 17129779;17475902;19643086;19508863;19403800;19389703;19371039;19176287;19074442;18842806;18817749;18718264;18650265;18003745;17947394;17446347;17335806;17156779;16143108;15489334;14702039;12477932;22785121;23601781;19762432;20005757;20036773;20225891;20686069;20724482;19913121;20628086;20301716;20805364;20795774;16344560;21256110;22954694;21489556;21333572;21602279;21338559;21963094;22843796;21890473;21906983;22179615;22496243;22345511 113235 C9JSZ2;J3KTE6;J3QL21;J3QRF7;K7EPJ7;Q96NT5 ABBA01015059;AC002094;AC015917;AK054669;AK074161;AK097194;AK295883;AL832613;AMYH01008277;BC010691;BC022100;BC065365;CH471159;CQ834412;DA188147;DQ496103;NG_013306;NM_001242366;NM_080669 AAH10691;ABF47092;ADZ16056;BAB70789;BAB84987;BAG58679;CAD89945;CAH05421;EAW51085;EAW51086;EAW51087;EAW51088;EAW51089;NP_001229295;NP_542400;Q96NT5 Hs.446689 1660570;1672648;2219666 SARM1__5545;SHGC-30073;SHGC-57890 FLJ39875;HCP1;MGC9564;PCFT G21;PCFT/HCP1;heme carrier protein 1;proton-coupled folate transporter;solute carrier family 46 member 1 APPROVED protein-coding ENSG00000076351 30521 14715 229050;611672 REVIEWED 737027 SLC4A1 solute carrier family 4 (anion exchanger), member 1 The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008] 17 17 q21.31 39682566 39700993 - 42325758 42345502 - 1599007;1580863;6480464;7240710 8282779 7530501;7479704;15500919;15489334;15478802;15310273;15252044;15211439;15182940;15121092;15087282;15067510;15039022;14769040;14736961;14695625;14654610;14640982;14604989;14570914;12938018;12933803;12813056;12578372;12531814;12482869;12482865;12477932;12466935;12446737;12227829;12175337;12149479;12101015;12087557;12070037;11994299;11934690;11876646;11844997;11831035;11756190;11380459;11208088;11155072;11063570;11049968;10942416;10942405;10926824;10820026;10364201;9973643;9854053;9845551;9774471;9765907;9734643;9709782;9709005;9600966;9454576;9422766;9312167;9233560;9207478;9191821;9012689;8960772;8943874;8808627;8704215;8693505;8640229;8578746;8567957;8547122;8527430;8508760;8471774;8434259;8343110;8206915;8168533;8045253;7949112;7919393;7902326;7812009;7774942;4027230;379653;10950304;14734552;8841202;12539048;16669616;19438409;19294450;19289107;19238475;19229254;19071041;19029645;18979639;18945214;18778682;18714043;18524859;18358003;18266205;18160114;17971901;17941824;17854772;17652430;17554061;17553790;17533027;17453414;17408468;17361021;17317744;17205967;17137217;17128827;17027918;16960783;16914912;16849697;16762928;16718373;16700540;16420521;16411779;16392641;16252102;16229454;16227998;16118313;16107207;16013436;15907563;15847654;15813913;15811326;15653731;7506871;21209359;6615451;6449514;6345535;3478298;3372523;3223947;2968981;2790053;2594752;2575590;2065070;1998697;1885574;1824272;1737855;1722314;1678289;1639060;1538405;1527044;1520883;1471983;1378323;1352774;701248;695442;7626035;11606574;8227202;20576809;19913121;20346715;20628086;11208611;11842009;12898519;19330352;19564639;19625994;19722686;19846781;19907019;20005958;20007969;20015879;20035734;20062076;20068363;20100494;20132789;20424473;20628050;20691413;20561513;21039340;20799361;20151848;20825599;20828148;20833140;20932077;21543742;21257764;20960171;22919024;23013433;21455273;21246053;21493712;21300752;21527529;21761435;21695904;22155194;22126643;21871436;22580993;22170767;22214711;21649639;10605028;22518001;22861190;22016805;23219802;22609520;22426110;23255290;23251661 6521 P02730 AB526447;ABBA01028380;AC003043;AC003102;AM919470;AMYH01008416;BC096106;BC096107;BC099628;BC099629;BC101570;BC101574;CH471178;DQ072115;DQ419529;GQ981383;GQ981384;GQ981385;GQ981386;GQ981387;L35930;M16978;M16979;M27819;NG_007498;NM_000342;S68680;X12609 AAA35514;AAA51670;AAA51671;AAC60608;AAH96106;AAH96107;AAH99628;AAH99629;AAI01571;AAI01575;AAY57324;ABD74692;ADN39420;ADN39421;ADN39422;ADN39423;ADN39424;BAJ22989;CAA31128;CAP46016;EAW51614;NP_000333;P02730 Hs.443948 1649445;1660547;1741205;1796836;2135052;2152997;2158446;5024185 GDB:178577;RH17959;RH46054;RH67779;RH70913;RH79167;SLC4A1_726;WI-16724 AE1;BND3;CD233;DI;EMPB3;EPB3;FR;MGC116750;MGC116753;MGC126619;MGC126623;RTA1A;SW;WD;WD1;WR AE 1;Diego blood group;Froese blood group;OTTHUMP00000210781;Swann blood group;Waldner blood group;Wright blood group;anion exchange protein 1;anion exchanger 1;anion exchanger-1;band 3 anion transport protein;erythrocyte membrane protein band 3;erythroid anion exchange protein;solute carrier family 4 member 1;solute carrier family 4, anion exchanger, number 1;solute carrier family 4, member 1 APPROVED protein-coding ENSG00000004939 11027 00175 109270;110500;112010;112050;179800;601550;601551;611162;611590;612653 REVIEWED 1348028 SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] 2 2 2 q24.2 156091092 156452030 + 162189091 162550032 + 162480845 162841786 + 6480464;7240710 10993873;18413482;18319254;18165320;15815621;12477932;10965143;20101282;20331378;20379614;21906983 57282 B7Z2J0;C9J240;E7EW28;F8WDX9;Q6U841 AB040457;ABBA01004889;ABBA01004890;AC008063;AC062022;AC092841;AC096654;AK293793;AK294767;AK308529;AK309839;AL713680;AL832525;AMYH01011214;AY376402;BC036415;BC038298;BC051190;BC136269;BC143714;CA841736;CH471058;DC337667;NG_021401;NM_001178015;NM_001178016;NM_022058 AAI36270;AAI43715;AAQ83632;AAX88962;AAX93124;BAB18301;BAH11596;BAH11876;CAD28484;CAD38630;EAX11363;EAX11364;NP_001171486;NP_001171487;NP_071341;Q6U841 Hs.333958 1701096;1703992;1705014;1728333 G63448;RH104176;SHGC-77777;SHGC-78023 NBCn2;NCBE OTTHUMP00000204671;OTTHUMP00000204674;OTTHUMP00000207305;OTTHUMP00000207306;OTTHUMP00000207307;OTTHUMP00000207308;sodium-driven chloride bicarbonate exchanger;solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 APPROVED protein-coding ENSG00000144290 13811 605556 REVIEWED 733142 SLC4A3 solute carrier family 4 (anion exchanger), member 3 2 2 q36 220200536 220214946 + 220492292 220506702 + 1580863;6480464 8227202;7923606;12477932;12027221;11994299;11875273;11875255;11842009;11739292;11606574;11248201;11208611;10732805;10362722;8001971;2686841;19605733;19854014;21139048 6508 E9PCP1;F8WD49;H7C160;H7C1Z2;P48751 ABBA01023838;AC009955;AK226122;AK289974;AK299109;AK299595;AK309025;AK314083;AMYH01011510;AY142112;BC136384;BC146656;BC171760;CH471063;L27213;NM_005070;NM_201574;NR_048551;U05596;X70797;X87211 AAA50748;AAB05850;AAI36385;AAI46657;AAI71760;AAN34939;BAF82663;BAG61165;BAG61527;CAA50067;CAA60670;EAW70777;EAW70778;NP_005061;NP_963868;P48751 Hs.1176 1799300;1800230;1800232;1806388;1806568;1807064;1808566;1811188;1818716;1820388;1821110;1823228;1826476;1827102;1827558;1829426;1829666;1830234;1841652;1844842;1965520;1965522;1965524;1965526;1965528;1965530;1965532;1965534;1965536;1965538;1965540;1965542;1965544;1965546;1965548;1965550;1965552;1965554;1965556;1965558;1965560;1965562;1965564;1965566;1965568;1965570;1965572;1965574;1965576;1965578;1965580;1965582;1965584;1965586;1965588;1965590;1965592;1965594;1965596;1965598;1965600;1965602;1965604;1965606;1965608;1965610;1965612;1965614;1965616;1965618;1965620;1965622;1965624;1965626;1965628;1965630;1965632;1965634;1965636;1965638;1965640;1965642;1965644;1965646;1965648;1965650;1965652;1965654;1965656;1965658;2142895;2214150;2214152;2214154;2214156;2214158;2214160;2214162;2214164;2214166;2214168 D2S2848;ECD00498;ECD00973;ECD00974;ECD04150;ECD04241;ECD04497;ECD05265;ECD06592;ECD10422;ECD11269;ECD11632;ECD12703;ECD14352;ECD14666;ECD14896;ECD15844;ECD15965;ECD16251;ECD22023;ECD23637;REN53635;REN53636;REN53637;REN53638;REN53639;REN53640;REN53641;REN53642;REN53643;REN53644;REN53645;REN53646;REN53647;REN53648;REN53649;REN53650;REN53651;REN53652;REN53653;REN53654;REN53655;REN53656;REN53657;REN53658;REN53659;REN53660;REN53661;REN53662;REN53663;REN53664;REN53665;REN53666;REN53667;REN53668;REN53669;REN53670;REN53671;REN53672;REN53673;REN53674;REN53675;REN53676;REN53677;REN53678;REN53679;REN53680;REN53681;REN53682;REN53683;REN53684;REN53685;REN53686;REN53687;REN53688;REN53689;REN53690;REN53691;REN53692;REN53693;REN53694;REN53695;REN53696;REN53697;REN53698;REN53699;REN53700;REN53701;REN53702;REN53703;REN53704;stSG633139;stSG633140;stSG633142;stSG633143;stSG633144;stSG633145;stSG633146;stSG633147;stSG633148;stSG633149 AE3;SLC2C AE 3;Anion exchanger 3, neuronal;CAE3/BAE3;OTTHUMP00000065426;OTTHUMP00000065427;OTTHUMP00000196385;OTTHUMP00000196386;anion exchange protein 3;cardiac/brain band 3-like protein;neuronal band 3-like protein;solute carrier family 4 member 3;solute carrier family 4, member 3 APPROVED protein-coding ENSG00000114923 11029 00109 106195 VALIDATED 1350896 SLC4A7OS solute carrier family 4, sodium bicarbonate cotransporter, member 7 opposite strand 404197 21433 1320941 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] 20 20 p12 3156063 3166373 - 3208063 3219887 - 1580863;6480464;7240710 10209448;19369245;20118786;20144242;15525507;18474783;18363173;18024964;17679935;17667634;17397048;17262014;17220209;16825429;16767101;14702039;12654361;12477932;11836359;11780052;11302728;10512674;8889548;20848555;21203343;21288032;22072594;21963094;23462747;21906983;22447871 83959 B4DKC8;Q8NBS3 ABBA01053818;AF336127;AK075303;AK091157;AK296508;AK296760;AL109976;AMYH01011673;BC110540;BC110541;BM666654;CA312226;CH471133;DC341640;NG_017072;NM_001174089;NM_001174090;NM_032034 AAI10541;AAI10542;AAK16734;BAC11536;BAG59140;BAG59341;EAX10535;EAX10536;EAX10537;EAX10538;EAX10539;NP_001167560;NP_001167561;NP_114423;Q8NBS3 Hs.105607 1335497;1336801;1337010;1338765;1357241;2108503;5021722;7183697;7187790 D20S113;D20S179;D20S482;D20S882;D20S889;SLC4A11_8111;ksks428 BTR1;CDPD;CDPD1;CHED2;MGC126418;MGC126419;NABC1;dJ794I6.2 OTTHUMP00000030096;OTTHUMP00000030097;bicarbonate transporter related protein 1;sodium bicarbonate transporter-like protein 11;sodium-coupled borate cotransporter 1;solute carrier family 4, sodium bicarbonate transporter-like, member 11 APPROVED protein-coding ENSG00000088836 16438 15392 217400;217700;610206;613268 REVIEWED 730989 SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] 3 3 p22 27389218 27473249 - 27414212 27525911 - 1580863;6480464 12444018;17353931;10347222;19330027;17624982;16301216;15324660;15144186;14736710;14578046;12403779;10600945;10198178;9610397;20542029;20095854;20145138;20453838;21263130;16344560;22383045;21139048;21890473;21906983;21963094;21224233;21987572;22120673;21909110;21909115;22907202;23117855 9497 B5M449;C9JRP1;C9JST9;D3K174;E9PDL9;E9PFN4;E9PGC1;F8W7E6;H7C3C4 AA569234;AB012130;ABBA01024999;ABBA01025000;ABBA01025001;ABBA01025002;ABBA01025003;ABBA01025004;AC099535;AF047033;AF053755;AF089726;AK309734;AK310865;AL389947;AL833589;AMYH01013045;CH471055;CR627428;DA756057;EU499349;EU934246;EU934247;EU934248;EU934249;EU934250;FJ178574;FJ178575;FJ178576;GU354307;GU354308;GU354309;GU354310;NG_032673;NM_001258379;NM_001258380;NM_003615 AAD38322;AAF21720;AAG16773;AAI56214;AAI72463;ACB47400;ACH61958;ACH61959;ACH61960;ACH61961;ACH61962;ACI24740;ACI24741;ACI24742;ADC32649;ADC32650;ADC32651;ADC32652;BAA25898;CAH10515;EAW64381;EAW64382;EAW64383;EAW64384;NP_001245308;NP_001245309;NP_003606;Q9Y6M7 Hs.250072 1652631;1668707;1678801;1721589;1728137;1766551;2108931 G59804;G63491;RH92347;SHGC-149867;SHGC-76801;SLC4A7_7948;WI-18242 DKFZp686H168;NBC2;NBC3;NBCN1;SBC2;SLC4A6 OTTHUMP00000208472;OTTHUMP00000208473;OTTHUMP00000208474;OTTHUMP00000208476;OTTHUMP00000208477;OTTHUMP00000208478;OTTHUMP00000208479;OTTHUMP00000208483;OTTHUMP00000208484;OTTHUMP00000208486;bicarbonate transporter;sodium bicarbonate cotransporter 2;sodium bicarbonate cotransporter 2b;sodium bicarbonate cotransporter 3;solute carrier family 4 member 7 APPROVED protein-coding ENSG00000033867 11033 04521 603353 REVIEWED 731047 SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5 This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 p13 74296877 74424042 - 74443369 74570534 - 1580863;6480464;6907045;7240710 22610502;22764636;19384345;16365189;12477932;12388414;12063394;11788353;11562789;11087115;10978526;19487301;22987918 57835 C9JNL6;C9JU12;C9JW32;E7EQT3;E7ETM3;Q9BY07 AB209752;ABBA01075599;ABBA01075600;AC006030;AC073263;AC103915;AF243499;AF293337;AF293338;AF452248;AF453528;AMYH01010454;BC109221;CH471053;DB455137;NG_032663;NM_021196;NM_133478 AAF03523;AAI09222;AAK26741;AAK97072;AAK97073;AAL48291;AAL50802;AAX93062;AAY14938;BAD92989;EAW99688;EAW99689;EAW99690;EAW99691;EAW99692;EAW99693;NP_067019;NP_597812;Q9BY07 Hs.594099 1667882;1696340;1723577;1724015;2123303;5022578 AFM326wg9;D1S1423;RH118960;RH123242;SHGC-77769;WI-17080 MGC129662;NBC4 NBCe2;OTTHUMP00000115292;OTTHUMP00000115293;OTTHUMP00000115294;OTTHUMP00000200878;OTTHUMP00000200879;electrogenic sodium bicarbonate cotransporter 4;solute carrier family 4 member 5 APPROVED protein-coding ENSG00000188687 18168 08420 604278;606757 REVIEWED 1316058 SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 2 2 2 p23.3 27731809 27763317 + 27739842 27771351 + 27886338 27917847 + 1580863;6480464 17081983;15815621;15764369;15489334;15302935;15252450;14702039;12800979;12477932;11934690;11772400;11329013;9422766;17553790;8570611;21832049;22939629;18029348;20628050;19471022;21139048;21693764;21906983;22159054;22379092;22747683 22950 H7C256;Q9BWU0 ABBA01045214;ABBA01045215;AC074091;AK001486;AK098323;AK300958;AMYH01010199;AY028435;AY117688;BC098302;BC098358;BC099711;BC099739;BG220419;CH471053;DQ786283;NM_018158;U38432 AAH98302;AAH98358;AAH99711;AAH99739;AAK29177;AAN12269;AAX93203;BAA91718;BAG62586;EAX00554;EAX00555;NP_060628;Q9BWU0 Hs.306000 1337690;1768003;2110747;5014023;5015959;5016781;5020635;5022578;5022651 D10S2448;D11S2921;D13S1553;D1S1423;D22S532;D7S3207;SHGC-67307;SLC4A1AP_8003;STS-N26833 FLJ10624;FLJ41004;HLC3;MGC120646;MGC120648 HLC-3;OTTHUMP00000200842;human lung cancer oncogene 3 protein;kanadaptin;kidney anion exchanger adapter protein;kidney anion exchanger adaptor protein;lung cancer oncogene 3;solute carrier family 4 (anion exchanger), member 1, adapter protein;solute carrier family 4 anion exchanger member 1 adapter protein protein-coding ENSG00000163798 13813 04038 602655 VALIDATED 68964 SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 4 4 q21 72271867 72656663 + 72053003 72437804 + 61794;1600028;1600034;6480464;6907045;7240710 10545938;15340004;12944321 9651366;9235899;19336397;19158093;19102757;18614622;18441326;18223262;17881426;17661077;17182531;16857349;16707554;16687407;16622177;16344560;16159892;15930088;15817634;15713912;15563508;15489334;15471865;15366422;15329059;15273250;15218065;15123668;14702039;14567693;14559244;12907161;12730338;12534288;12477932;12411514;11744745;11743927;10652014;10600945;10099707;10069984;8358434;20936779;19913121;20628086;19294449;19662435;20197274;20837482;21234596;21317537;21228764;21621518;21976511;23324180;23362273;22383045;22479346;21224233;22012331;22415075;23166209;23303189 8671 A5JJ20;Q9UP50 AA349118;AB470072;ABBA01022964;ABBA01022965;ABBA01022966;ABBA01022967;ABBA01022968;AC019089;AC079230;AC096713;AC110783;AC112226;AF004813;AF007216;AF011390;AF053753;AF053754;AF069510;AF157492;AF310248;AK090968;AK226164;AK307594;AK308038;AMYH01014285;AMYH01014286;AMYH01014287;AMYH01014288;AV724814;AV726720;BC030977;BC127908;BE855478;CH471057;CR749482;DA343084;DA378692;DA635432;EF531618;NG_012653;NM_001098484;NM_001134742;NM_003759 AAC39840;AAC51645;AAD31379;AAD42020;AAF21718;AAF21719;AAF80343;AAG47773;AAH30977;ABQ43327;BAH58226;CAH18310;EAX05639;EAX05640;EAX05641;EAX05642;EAX05643;EAX05644;NP_001091954;NP_001128214;NP_003750;Q9Y6R1 Hs.5462 1335285;1338356;1668193;1696270;1696286;1704736;1712691;1719007;1750797;1753751;1764093;1790205;1793320;2112094;2173346;2180509;2186011;2218012;7185501 AW527043;D4S1509;D4S1543;D4S2931;D4S3319;G16764;G17822;PMC209339P1;RH121043;RH123210;SHGC-100544;SHGC-103649;SHGC-147750;SHGC-53498;SHGC-79648;SHGC-83657;SHGC-83779;SLC4A4_3914 DKFZp781H1314;HNBC1;KNBC;NBC1;NBC2;NBCe1-A;SLC4A5;hhNMC;pNBC Na(+)/HCO3(-) cotransporter;OTTHUMP00000160355;OTTHUMP00000218884;OTTHUMP00000218885;electrogenic sodium bicarbonate cotransporter 1;kNBC1;sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas);solute carrier family 4 member 4;solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type;solute carrier family 4, sodium bicarbonate cotransporter, member 5 APPROVED protein-coding ENSG00000080493 11030 04516 603345;604278 REVIEWED 730837 SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 5 5 5 q31 135816417 135831351 + 139719971 139734906 + 139739787 139754722 + 1580863;6480464 12477932;11305939;11302728 83697 Q9BXN3 AB032762;ABBA01026434;AC008438;AF313465;AF332961;AF336237;AMYH01015656;BC136262;BC143602;CB046220;CH471062;NG_032676;NM_001258426;NM_001258427;NM_001258428;NM_031467 AAI36263;AAI43603;AAK16733;AAK28832;AAK69625;BAA93010;EAW62061;EAW62062;EAW62063;EAW62064;EAW62065;EAW62066;EAW62067;EAW62068;NP_001245355;NP_001245356;NP_001245357;NP_113655;Q96Q91 Hs.550313 AE4 AE 4;OTTHUMP00000223645;OTTHUMP00000223646;OTTHUMP00000223647;OTTHUMP00000223648;anion exchange protein 4;anion exchanger 4;sodium bicarbonate cotransporter 5;solute carrier family 4 member 9;solute carrier family 4, sodium bicarbonate cotransporter-like, member 9 APPROVED protein-coding ENSG00000113073 11035 15393 610207 REVIEWED 1607017 SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 1 1 1 q22 128179725 128182926 + 153374950 153377951 + 155108288 155111334 + 6480464 14991772;8630032;12477932;21107422;17207965;22451204;19322201 55974 Q5SR67;Q9BRV3 ABBA01016716;AF126023;AF126024;AK289551;AL691442;AMYH01001426;BC005943;BC009621;BC010869;BC012378;BC069245;BI711397;CH471121;CQ834326;CQ834328;CR457148;NM_001122837;NM_001122839;NM_018845 AAF17232;AAF17233;AAH05943;AAH09621;ADQ31652;BAF82240;CAG33429;CAH05378;CAH05379;EAW53127;EAW53128;EAW53129;EAW53130;NP_001116309;NP_001116311;NP_061333;Q9BRV3 Hs.292154 1692912;1795734;2179794;5014051;5016478;5022200;5037552 AL034168;D8S2278;D8S2279;EFNA1_321;GDB:434012;L18426;STS-W60696 HsSWEET1;RAG1AP1;RP11-540D14.5;SCP;SWEET1;slv OTTHUMP00000033279;OTTHUMP00000033280;OTTHUMP00000033281;OTTHUMP00000033282;RAG1-activating protein 1;RZPDo834D038D;probable sugar transporter RAG1AP1;recombination activating gene 1 activating protein 1;solute carrier family 50 member 1;stromal cell protein;sugar transporter SWEET1 APPROVED protein-coding ENSG00000169241 30657 17427 613683 VALIDATED 733302 SLC4A2 solute carrier family 4 (anion exchanger), member 2 7 7 q36.1 150387590 150404547 + 150755299 150773614 + 1580863;6480464;6907045 3015590;19491853;18930330;18676680;18438347;17652430;17058451;16344560;15489334;14575719;12477932;12225956;11852051;11842009;11248201;11208611;11156694;10820026;10623603;10577919;10491633;10491290;10452823;9587054;9477304;9027488;8889548;8434259;7984058;7626035;3020980;2968981;1562608;19913121;20180022;20628086;19170196;19224338;19625176;19692168;20379614;20424473;21691115;18781797;21594562;21987572;21139048;21906983;22383162;23121767;22802585;21890473;21963094;23275563;22053931 6522 C9J035;C9J459;C9J722;C9J9M9;C9JVC2;J3KNG9;P04920;Q59GF1 AACC02000108;AB209158;ABBA01035167;AC010973;AK295767;AK296065;AK312699;AMYH01018142;BC004893;BC009386;BC009434;BC010069;BC028601;BC128111;BM680391;CH471173;CV807529;DA103528;DA699325;DQ149844;NM_001199692;NM_001199693;NM_001199694;NM_003040;U62531;U76669;X03918;X62137 AAC50964;AAF19583;AAF19584;AAF23240;AAH04893;AAH09386;AAH09434;AAH10069;AAH28601;AAZ38724;ABM87511;ABW03897;BAD92395;BAG35577;BAG58592;BAH12249;CAA27556;CAA44067;EAW54044;EAW54045;EAW54046;EAW54047;EAW54048;NP_001186621;NP_001186622;NP_001186623;NP_003031;P04920 Hs.647069 1769238;2121947;2148951 RH48801;RH71298;STS-X62137 AE2;BND3L;EPB3L1;FLJ59028;HKB3;NBND3 AE 2;OTTHUMP00000212940;OTTHUMP00000212941;OTTHUMP00000212942;OTTHUMP00000212943;anion exchange protein 2;anion exchanger 2 type a;anion exchanger 2 type b1;anion exchanger 2 type b2;erythrocyte membrane protein band 3-like 1;non-erythroid band 3-like protein;solute carrier family 4 member 2;solute carrier family 4, member 2 APPROVED protein-coding ENSG00000164889 11028 02728 109280 VALIDATED 1604974 SLC51A solute carrier family 51, alpha subunit 3 3 3 q29 194523852 194541937 + 197427780 197444698 + 195943383 195960301 + 6480464 16317684;18847488;18469300;17332473;16713569;16423920;16269519;16251721;15563450;12719432;12477932;20538072;21691099;22535958 200931 C9J2I5;F8WBV2;H7C351;H7C3V2;Q86UW1 ABBA01033723;ABBA01033724;AC069257;AK172837;AK300996;AK310276;AMYH01013793;AY194243;BC029606;CH471191;NM_152672 AAH29606;AAP23993;BAD18802;BAG62615;EAW53665;NP_689885;Q86UW1 Hs.630585 1644245;2176497 SGC33919;SHGC-77670 MGC39807;OSTA;OSTalpha OST-alpha;OTTHUMP00000208487;organic solute transporter alpha;organic solute transporter subunit alpha;organic solute transporter, alpha subunit;solute carrier family 51 subunit alpha APPROVED protein-coding ENSG00000163959 29955 17810 612084 VALIDATED 1346907 SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 12 12 q13.13 50104861 50189247 + 51785101 51909547 + 1580863;6480464 18577713;16344560;14736710;14702039;12477932;12444018;12403779;12121896;12027220;11133997;10362779;9872452;21139048;21906983;23535033 9498 B4DHY0;E7EML0;F5GZ31;Q2Y0W8 AB018282;ABBA01031611;ABBA01031612;ABBA01031613;AC025097;AC046135;AC107031;AF069512;AF107099;AI377345;AK056222;AK093005;AK093357;AK124576;AK128321;AK295315;AK299545;AK310017;AL137310;AL831915;AMYH01004465;AW118662;BC025994;CH471111;DA521806;DB220099;DQ063579;DQ975204;DQ996398;DQ996537;EU637925;NG_032675;NM_001039960;NM_001258401;NM_001258402;NM_001258403;NM_001267615;NR_047672 AAC82380;AAD52981;AAH25994;AAY79176;ABJ09587;ABJ91576;ABJ91577;BAA34459;BAG58292;BAG61491;CAD38576;EAW58191;EAW58192;EAW58193;NP_001035049;NP_001245330;NP_001245331;NP_001245332;NP_001254544;Q2Y0W8 Hs.4749 1336007;1722919;1747729;1788458;2147205;5015619;5016596;5021872;5022200;5022578;5022588;5023327;5037552 D11S3114;D12S1633;D1S1423;D5S1597E;D8S2279;G60556;G64245;GDB:631802;L18023;L18426;WI-11123;fk57e05.x1;sY3084 DKFZp761B2318;FLJ46462;NBC3;NDCBE Na+-driven Cl-HCO3 exchanger;OTTHUMP00000241291;OTTHUMP00000241292;OTTHUMP00000241293;OTTHUMP00000241295;electroneutral Na(+)-driven Cl-HCO3 exchanger;electroneutral sodium bicarbonate exchanger 1;k-NBC3;solute carrier family 4 member 8 APPROVED protein-coding ENSG00000050438 11034 05430 605024 REVIEWED 1346677 SLC52A1 solute carrier family 52 (riboflavin transporter), member 1 Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] 17 17 17 p13.2 4950713 4953543 - 4876621 4879451 - 4935897 4938727 - 737633;1580863;6480464 12477932 14702039;18632736;16344560;15489334;12740431;12044878;21089064;22702469;23413253 55065 F5H5Y1;Q9NWF4 AB083624;AB362533;AB362534;ABBA01054790;AC012146;AK000922;AK023570;AK123566;AMYH01008045;AY070775;BC060810;BC092473;BU752646;CH471108;DA383729;NG_033117;NM_001104577;NM_017986 AAH60810;AAH92473;AAL59883;ACE86763;ADZ15644;BAA91427;BAB89337;BAG53914;BAG71128;BAG71129;EAW90363;EAW90364;EAW90365;NP_001098047;NP_060456;Q9NWF4 Hs.632247 1792784;5015861;5016478;7185938 D10S16;GDB:434012;PMC164520P2 FLJ10060;GPCR;GPCR42;GPR172B;PAR2;RBFVD;RFT1;RFVT1;hRFT1 G protein-coupled receptor 172B;G-protein coupled receptor GPCR42;OTTHUMP00000125300;PERV-A receptor 2;porcine endogenous retrovirus A receptor 2;riboflavin transporter 1;solute carrier family 52, riboflavin transporter, member 1 APPROVED protein-coding ENSG00000132517 30225 07432 607883;615026 REVIEWED 1345162 SLC5A12 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008] 11 11 11 p14.2 26833841 26888871 - 26645142 26700150 - 26688566 26743574 - 737633;1580863;6480464 12477932 17692818;15146197 159963 E9PLZ7;G3V1E3;Q1EHB4 ABBA01060979;ABBA01060980;AC083755;AL049270;AMYH01003456;AW614338;AY299482;BC029048;BC041454;BC049207;BM924715;CH471064;CN370367;CR747563;NM_178498 AAH41454;AAH49207;AAQ73572;EAW68293;EAW68294;EAW68295;NP_848593;Q1EHB4 Hs.148907 DKFZp564G223;MGC52019;SMCT2 OTTHUMP00000198294;electroneutral sodium monocarboxylate cotransporter;low-affinity sodium-lactate cotransporter;sodium-coupled monocarboxylate transporter 2;sodium-iodide related cotransporter;solute carrier family 5 member 12 APPROVED protein-coding ENSG00000148942 28750 15395 612455 VALIDATED 1604245 SLC51B solute carrier family 51, beta subunit 15 15 15 q22.31 42215879 42223900 + 63129366 63132592 + 65337708 65345734 + 6480464 12719432;18469300;17332473;16423920;16317684;16269519;16251721;15563450;12477932;20538072;20649839;18847488;8889549;21691099;22535958 123264 Q86UW2 AA156136;AA621440;ABBA01038861;AC013553;AI793107;AK129601;AMYH01006715;AY194242;BC103842;BC103843;BC103844;CH471082;NM_178859 AAI03843;AAI03844;AAI03845;AAP23992;EAW77708;NP_849190;Q86UW2 Hs.27018;Hs.534533 1338405;1669825;1680058;1851183;2146383 D15S1507;D15S619E;D15S953;RH48386;RH98169 FLJ26090;MGC118959;MGC118960;MGC118961;OSTB;OSTBETA OST-beta;OTTHUMP00000164149;organic solute transporter beta subunit;organic solute transporter subunit beta;solute carrier family 51 subunit beta APPROVED protein-coding ENSG00000186198 29956 17811 612085 VALIDATED 1349767 SLC52A2 solute carrier family 52 (riboflavin transporter), member 2 This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012] 8 8 8 q24.3 141757606 141760327 + 145553033 145555753 + 145582217 145584946 + 737633;1580863;6480464 12477932 15489334;14702039;12740431;12044878;20463145;15146197;16344560 79581 E9PIX2;E9PJC1;E9PKE4;E9PPS0;E9PRC3;F5GXA8;Q9HAB3 AB083623;AB522904;ABBA01005210;AC233992;AF205589;AK021918;AK027888;AK291581;AK303822;AL560856;AMYH01019151;AY070774;BC002917;BQ772207;BQ888729;BU603018;CA306391;CH471162;CN260061;DA289629;DC365525;NG_032872;NM_001253815;NM_001253816;NM_024531;NR_045600 AAH02917;AAL59882;BAB13936;BAB55433;BAB89336;BAF84270;BAG64770;BAK79010;EAW82115;EAW82116;NP_001240744;NP_001240745;NP_078807;Q9HAB3 Hs.6459;Hs.731710 1792782 PMC164520P1 BVVLS2;D15Ertd747e;GPCR;GPCR41;GPR172A;PAR1;RFT3;RFVT2;hRFT3 G protein-coupled receptor 172A;OTTHUMP00000228740;OTTHUMP00000228741;OTTHUMP00000228743;OTTHUMP00000228745;OTTHUMP00000228746;PERV-A receptor 1;porcine endogenous retrovirus A receptor 1;putative G-protein coupled receptor GPCR41;riboflavin transporter 3;solute carrier family 52, riboflavin transporter, member 2 APPROVED protein-coding ENSG00000185803 30224 07431 607882;614707 REVIEWED 1315814 SLC5A4 solute carrier family 5 (glucose activated ion channel), member 4 22 22 q12.3 30944463 30981318 - 32614463 32651318 - 1580863;6480464 18198291;17705872;17110502;16319503;13130073;12354616;10591208;9501190;22766068;20421923 6527 Q9NY91 ABBA01055369;AJ133127;AL008723;AMYH01012727;AMYH01012728;CH471095;GQ292716;JQ340171;JQ519903;NM_014227;U41897 AAB61732;AAI46452;AAI53070;ACT67432;AEZ53225;AEZ53226;CAB81772;EAW60017;EAW60018;NP_055042;Q9NY91 Hs.130101 1666674;1714051;1799794;1799906;1800146;1800602;1809616;1813000;1815316;1817214;1820706;1822442;1822784;1822964;1823322;1823804;1824172;1824944;1825580;1827128;1827654;1828860;1829608;1830788;1831548;1831680;1832158;1832904;1833668;1834444;1834726;1838676;1841316;1841750;1842268;1842968;1844578;1845648;2012180;2012182;2012184;2012186;2012188;2012190;2012192;2012194;2012196;2012198;2012200;2012202;2012204;2012206;2012208;2012210;2012212;2012214;2012216;2012218;2012220;2012222;2012224;2012226;2012228;2012230;2012232;2012234;2012236;2012238;2012240;2012242;2012244;2012246;2012248;2012250;2012252;2012254;2012256;2012258;2012260;2012262;2012264;2012266;2012268;2012270;2012272;2012274;2012276;2012278;2012280;2012282;2012284;2012286;2012288;2012290;2012292;2012294;2012296;2012298;2012300;2012302;2012304;2012306;2012308;2012310;2012312;2012314;2012316;2012318;2012320;2012322;2012324;2012326;2012328;2012330;2012332;2012334;2012336;2012338;2012340;2012342;2012344;2012346;2012348;2012350;2012352;2012354;2012356;2012358;2012360;2012362;2012364;2012366;2012368;2012370;2012372;2012374;2012376;2012378;2012380;2012382;2012384;2012386;2012388;2012390;2012392;2012394;2012396;2012398;2012400;2012402;2012404;2012406;2012408;2012410;2012412;2012414;2012416;2012418;2012420;2012422;2012424;2012426;2012428;2012430;2012432;2012434;2012436;2012438;2012440;2012442;2012444;2012446;2012448;2012450;2012452;2012454;2012456;2012458;2012460;2012462;2012464;2012466;2012468;2012470;2012472;2012474;2012476;2012478;2012480;2012482;2012484;2012486;2012488;2012490;2012492;2012494;2012496;2012498;2012500;2012502;2012504;2012506;2012508;2098454;2098456;2098458;2098460;2098462;2098464;2098466;2098468;2098470;2098472;2098474;2098476;2098478;2098480;2098482;2098484;2098486;2098488;2098490;2098492;2098494;2098496;2098498;2098500;2098502;2098504;2098506;2098508;2098510;2098512;2098514 ECD00751;ECD00807;ECD00929;ECD01162;ECD05800;ECD07514;ECD08694;ECD09657;ECD11428;ECD12309;ECD12480;ECD12570;ECD12750;ECD12994;ECD13182;ECD13571;ECD13898;ECD14679;ECD14947;ECD15557;ECD15935;ECD16530;ECD16911;ECD16977;ECD17217;ECD17593;ECD17979;ECD18370;ECD18511;ECD20512;ECD21854;ECD22074;ECD22337;ECD22692;ECD23503;ECD24042;REN77019;REN77020;REN77021;REN77022;REN77023;REN77024;REN77025;REN77026;REN77027;REN77028;REN77029;REN77030;REN77031;REN77032;REN77033;REN77034;REN77035;REN77036;REN77037;REN77038;REN77039;REN77040;REN77041;REN77042;REN77043;REN77044;REN77045;REN77046;REN77047;REN77048;REN77049;REN77050;REN77051;REN77052;REN77053;REN77054;REN77055;REN77056;REN77057;REN77058;REN77059;REN77060;REN77061;REN77062;REN77063;REN77064;REN77065;REN77066;REN77067;REN77068;REN77069;REN77070;REN77071;REN77072;REN77073;REN77074;REN77075;REN77076;REN77077;REN77078;REN77079;REN77080;REN77081;REN77082;REN77083;REN77084;REN77085;REN77086;REN77087;REN77088;REN77089;REN77090;REN77091;REN77092;REN77093;REN77094;REN77095;REN77096;REN77097;REN77098;REN77099;REN77100;REN77101;REN77102;REN77103;REN77104;REN77105;REN77106;REN77107;REN77108;REN77109;REN77110;REN77111;REN77112;REN77113;REN77114;REN77115;REN77116;REN77117;REN77118;REN77119;REN77120;REN77121;REN77122;REN77123;REN77124;REN77125;REN77126;REN77127;REN77128;REN77129;REN77130;REN77131;REN77132;REN77133;REN77134;REN77135;REN77136;REN77137;REN77138;REN77139;REN77140;REN77141;REN77142;REN77143;REN77144;REN77145;REN77146;REN77147;REN77148;REN77149;REN77150;REN77151;REN77152;REN77153;REN77154;REN77155;REN77156;REN77157;REN77158;REN77159;REN77160;REN77161;REN77162;REN77163;REN77164;REN77165;REN77166;REN77167;REN77168;REN77169;REN77170;REN77171;REN77172;REN77173;REN77174;REN77175;REN77176;REN77177;REN77178;REN77179;REN77180;REN77181;REN77182;REN77183;RH119457;SGC33122;stSG602616;stSG602617;stSG602618;stSG602619;stSG602620;stSG602621;stSG602622;stSG602623;stSG602624;stSG602625;stSG602626;stSG602627;stSG602628;stSG602629;stSG602630;stSG602631;stSG602632;stSG602633;stSG602634;stSG602635;stSG602636;stSG602637;stSG602638;stSG602639;stSG602640;stSG602641;stSG602642;stSG602643;stSG602644;stSG602645;stSG602646 DJ90G24.4;SAAT1;SGLT3 Na(+)/glucose cotransporter 3;OTTHUMP00000195961;low affinity sodium glucose cotransporter;low affinity sodium-glucose cotransporter;sodium transporter;sodium/glucose cotransporter 3;solute carrier family 5 (neutral amino acid transporters, system A), member 4;solute carrier family 5 member 4 APPROVED protein-coding ENSG00000100191 11039 10238 VALIDATED 7207688 SLC5A4P1 solute carrier family 5 (glucose activated ion channel), member 4 pseudogene 1 11 124143866 124144474 + 100422550 ABBA01031261;AMYH01004102;AP002965;NG_024564 APPROVED pseudo ENSG00000255116 45041 INFERRED 1347645 SLC5A11 solute carrier family 5 (sodium/inositol cotransporter), member 11 Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008] 16 16 16 p12.1 23635365 23703959 + 24765053 24830445 + 24857184 24922949 + 1580863;6480464 18069935;12477932;12133831;12039040;20379614;20800603 115584 B7Z8N3;H3BN85;I3L1G0;Q8WWX8 AA772233;ABBA01017101;ABBA01017102;ABBA01017103;ABBA01017104;ABBA01017105;AC008731;AF292385;AJ305237;AK125267;AK295427;AK298373;AK303691;AMYH01007393;AMYH01007394;AY044906;BC049385;BC057780;CH471145;DC332171;NM_001258411;NM_001258412;NM_001258413;NM_001258414;NM_052944;U41898 AAB61733;AAH49385;AAH57780;AAK97053;AAK97784;BAC86105;BAH12065;BAH12770;BAH14019;CAC83728;EAW55781;NP_001245340;NP_001245341;NP_001245342;NP_001245343;NP_443176;Q8WWX8 Hs.164118 1731433;1750035 D16S319;SHGC-111723 KST1;RKST1;SGLT6;SMIT2 Na(+)/myo-inositol cotransporter 2;OTTHUMP00000122494;homolog of rabbit KST1;na+/myo-inositol cotransporter 2;putative sodium-coupled cotransporter RKST1;sodium-dependent glucose cotransporter;sodium/glucose cotransporter KST1;sodium/myo-inositol cotransporter 2;sodium/myo-inositol transporter 2;solute carrier family 5 member 11 APPROVED protein-coding ENSG00000158865 23091 610238 VALIDATED 1313138 SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10 This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 17 17 17 p11.2 20769838 20834185 + 18796203 18864728 + 18853989 18924004 + 1580863;6480464 12748858;19237446;22127746;15342556;12477932;19913121;20628086;22212718 125206 A0PJK1 AA745934;ABBA01013329;ABBA01013330;AC003957;AC090286;AK057946;AK298345;AMYH01008187;AMYH01008188;BC034380;BC039868;BC062617;BC112347;BP332461;CH471276;DR003789;NM_001042450;NM_001270648;NM_001270649;NM_152351;NR_073067 A0PJK1;AAH34380;AAH39868;AAH62617;ADZ15561;BAB71619;BAG60592;EAW50439;EAW50440;EAW50441;NP_001035915;NP_001257577;NP_001257578;NP_689564 Hs.462418 1670119;1729448;1729861;2110439;7184643 D17S29;D17S737;GRAP_9174;WI-14642 FLJ25217;SGLT-5;SGLT5 Na(+)/glucose cotransporter 5;OTTHUMP00000065729;OTTHUMP00000065730;OTTHUMP00000065731;OTTHUMP00000065732;sodium/glucose cotransporter 5;solute carrier family 5 member 10 APPROVED protein-coding ENSG00000154025 23155 15394 REVIEWED 734339 SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 21 21 q22.12 34367740 34400431 + 35445870 35478561 + 1580863;6480464 1372904;19198609;19032932;17178845;16344560;15342556;14702039;10830953;9685419;9612208;9441750;8646889;7789985;20738937;20971364;21139048;21906983;19738201;21565611;21963094;23207989;22053931 6526 P53794 AB074183;ABBA01057365;AF027153;AK024896;AK026169;AK055913;AK092248;AL833562;AMYH01012214;AP000315;AP000467;AX750578;BP290336;DA723865;DB080492;L38500;NM_006933;X83558 AAC39548;AAC41747;AAI40350;AAI46537;CAD99141;NP_008864;P53794 Hs.302742 1701002;1770008;1857881;2110873;2116545;2116547;2118353;2130978;2149205;2218812 A005K42;Cda0ae11;D21S363E;G20293;RH104128;RH35989;RH78031;SHGC-87543;SHGC-87556;SLC5A3_3862 SMIT;SMIT1;SMIT2 BCW2 protein;Na(+)/myo-inositol cotransporter;OTTHUMP00000068543;human solute carrier family 5, member 3, Sodium/myo-inositol cotransporter;sodium/myo-inositol cotransporter;sodium/myo-inositol cotransporter 1;sodium/myo-inositol transporter 1;solute carrier family 5 (inositol transporter), member 3;solute carrier family 5 (inositol transporters), member 3;solute carrier family 5 member 3 protein-coding ENSG00000198743 11038 02708 600444 VALIDATED 732146 SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 22 22 q12.3 30769259 30836645 + 32439019 32509016 + 1624257;1580863;1626159;1625539;6480464;6907045;7240710 2008213;15449578;15466941 16344560;7759499;8563765;18455122;19115253;18853313;18713983;18481997;18471079;17983207;17903058;17686765;17567994;17505558;17495124;17222499;17153597;17130520;16860318;16788146;16446504;16322051;16300400;16260652;15904891;15885653;15596535;15476411;15461802;15166308;14724758;12773314;12543931;12488461;12477932;12139397;12082088;11406349;11131365;10591208;10036327;8889548;8567640;8244393;8195156;7823022;2490366;16327313;15090548;21406183;12885248;19509029;20338844;20379614;20424473;20800603;20965718;20334581;20980548;21048164;23116249;21156162;20564476;21190656;20486940;23008432;22004742;22159082;21080109;22159627;23010278 6523 P13866 ABBA01055362;ABBA01055363;ABBA01055364;AI078794;AK297665;AK312948;AK316184;AL022321;AMYH01012724;AMYH01012725;BC139839;BM980416;CH471095;CR456579;DA429018;DA562836;DQ656053;L29339;M24847;NG_017045;NM_000343;NM_001256314;Z74021;Z80998;Z83839;Z83849 AAA60320;AAB59448;AAI39839;AAI39840;AAI41436;AAI46581;BAG35789;BAH12645;BAH14555;CAG30465;CAK54607;CAK54906;EAW60006;NP_000334;NP_001243243;P13866 Hs.1964 1659567;1663341;1678803;1731329;1742091;1798970;1799852;1803046;1803116;1805930;1806056;1808228;1808648;1809480;1809552;1809766;1811442;1812504;1812996;1812998;1813456;1813594;1814982;1815730;1816282;1817658;1817852;1818788;1819636;1819778;1820590;1821712;1822022;1822514;1822634;1822874;1823112;1823320;1823858;1824780;1826308;1826410;1827570;1828858;1829202;1831632;1831976;1832388;1832662;1833626;1835352;1835984;1837018;1837078;1837864;1837994;1838194;1838418;1839072;1839450;1839582;1839584;1840514;1840946;1842784;1842786;1842900;1843254;1843720;1843804;1844022;1845646;1846566;2010730;2010732;2010734;2010736;2010738;2010740;2010742;2010744;2010746;2010748;2010750;2010752;2010754;2010756;2010758;2010760;2010762;2010764;2010766;2010768;2010770;2010772;2010774;2010776;2010778;2010780;2010782;2010784;2010786;2010788;2010790;2010792;2010794;2010796;2010798;2010800;2010802;2010804;2010806;2010808;2010810;2010812;2010814;2010816;2010818;2010820;2010822;2010824;2010826;2010828;2010830;2010832;2010834;2010836;2010838;2010840;2010842;2010844;2010846;2010848;2010850;2010852;2010854;2010856;2010858;2010860;2010862;2010864;2010866;2010868;2010870;2010872;2010874;2010876;2010878;2010880;2010882;2010884;2010886;2010888;2010890;2010892;2010894;2010896;2010898;2010900;2010902;2010904;2010906;2010908;2010910;2010912;2010914;2010916;2010918;2010920;2010922;2010924;2010926;2010928;2010930;2010932;2010934;2010936;2010938;2010940;2010942;2010944;2010946;2010948;2010950;2010952;2010954;2010956;2010958;2010960;2010962;2010964;2010966;2010968;2010970;2010972;2010974;2010976;2010978;2010980;2010982;2010984;2010986;2010988;2010990;2010992;2010994;2010996;2010998;2011000;2011002;2011004;2011006;2011008;2011010;2011012;2011014;2011016;2011018;2011020;2011022;2011024;2011026;2011028;2011030;2011032;2011034;2011036;2011038;2011040;2011042;2011044;2011046;2011048;2011050;2011052;2011054;2011056;2011058;2011060;2011062;2011064;2011066;2011068;2011070;2011072;2011074;2011076;2011078;2011080;2011082;2011084;2011086;2011088;2011090;2011092;2011094;2011096;2011098;2011100;2011102;2011104;2011106;2011108;2011110;2011112;2011114;2011116;2011118;2011120;2011122;2011124;2011126;2011128;2011130;2011132;2011134;2011136;2011138;2011140;2011142;2011144;2011146;2011148;2011150;2011152;2011154;2011156;2011158;2011160;2011162;2011164;2011166;2011168;2011170;2011172;2011174;2011176;2011178;2011180;2011182;2011184;2011186;2011188;2011190;2011192;2011194;2011196;2011198;2011200;2011202;2011204;2011206;2011208;2011210;2011212;2011214;2011216;2011218;2011220;2011222;2011224;2011226;2011228;2011230;2011232;2011234;2011236;2011238;2011240;2011242;2011244;2011246;2011248;2011250;2011252;2011254;2011256;2011258;2011260;2011262;2011264;2011266;2011268;2011270;2011272;2011274;2011276;2011278;2011280;2011282;2011284;2011286;2011288;2011290;2011292;2011294;2011296;2011298;2011300;2011302;2011304;2011306;2011308;2011310;2011312;2011314;2011316;2011318;2011320;2011322;2011324;2011326;2011328;2011330;2011332;2011334;2011336;2011338;2011340;2011342;2011344;2011346;2011348;2011350;2011352;2011354;2098200;2098202;2098204;2098206;2098208;2098210;2098212;2098214;2098216;2098218;2098220;2098222;2098224;2098226;2098228;2098230;2098232;2098234;2098236;2098238;2098240;2098242;2098244;2098246;2098248;2098250;2098252;2098254;2098256;2098258;2098260;2098262;2098264;2098266;2098268;2098270;2098272;2098274;2098276;2098278;2098280;2098282;2098284;2098286;2098288;2098290;2098292;2098294;2098296;2098298;2098300;2098302;2098304;2098306;2218014;5014802 D22S1033;D22S1542;D22S347;D22S652;ECD00327;ECD00780;ECD02414;ECD02449;ECD03918;ECD03981;ECD05095;ECD05306;ECD05732;ECD05768;ECD05875;ECD06719;ECD07259;ECD07512;ECD07513;ECD07749;ECD07820;ECD08522;ECD08903;ECD09183;ECD09881;ECD09980;ECD10458;ECD10885;ECD10959;ECD11370;ECD11942;ECD12097;ECD12345;ECD12405;ECD12525;ECD12644;ECD12749;ECD13021;ECD13488;ECD14267;ECD14319;ECD14902;ECD15556;ECD15728;ECD16953;ECD17126;ECD17333;ECD17472;ECD17958;ECD18831;ECD19153;ECD19673;ECD19703;ECD20102;ECD20168;ECD20269;ECD20383;ECD20715;ECD20907;ECD20974;ECD20975;ECD21444;ECD21666;ECD22599;ECD22600;ECD22658;ECD22835;ECD23071;ECD23113;ECD23224;ECD24041;GDB:190932;REN76287;REN76288;REN76289;REN76290;REN76291;REN76292;REN76293;REN76294;REN76295;REN76296;REN76297;REN76298;REN76299;REN76300;REN76301;REN76302;REN76303;REN76304;REN76305;REN76306;REN76307;REN76308;REN76309;REN76310;REN76311;REN76312;REN76313;REN76314;REN76315;REN76316;REN76317;REN76318;REN76319;REN76320;REN76321;REN76322;REN76323;REN76324;REN76325;REN76326;REN76327;REN76328;REN76329;REN76330;REN76331;REN76332;REN76333;REN76334;REN76335;REN76336;REN76337;REN76338;REN76339;REN76340;REN76341;REN76342;REN76343;REN76344;REN76345;REN76346;REN76347;REN76348;REN76349;REN76350;REN76351;REN76352;REN76353;REN76354;REN76355;REN76356;REN76357;REN76358;REN76359;REN76360;REN76361;REN76362;REN76363;REN76364;REN76365;REN76366;REN76367;REN76368;REN76369;REN76370;REN76371;REN76372;REN76373;REN76374;REN76375;REN76376;REN76377;REN76378;REN76379;REN76380;REN76381;REN76382;REN76383;REN76384;REN76385;REN76386;REN76387;REN76388;REN76389;REN76390;REN76391;REN76392;REN76393;REN76394;REN76395;REN76396;REN76397;REN76398;REN76399;REN76400;REN76401;REN76402;REN76403;REN76404;REN76405;REN76406;REN76407;REN76408;REN76409;REN76410;REN76411;REN76412;REN76413;REN76414;REN76415;REN76416;REN76417;REN76418;REN76419;REN76420;REN76421;REN76422;REN76423;REN76424;REN76425;REN76426;REN76427;REN76428;REN76429;REN76430;REN76431;REN76432;REN76433;REN76434;REN76435;REN76436;REN76437;REN76438;REN76439;REN76440;REN76441;REN76442;REN76443;REN76444;REN76445;REN76446;REN76447;REN76448;REN76449;REN76450;REN76451;REN76452;REN76453;REN76454;REN76455;REN76456;REN76457;REN76458;REN76459;REN76460;REN76461;REN76462;REN76463;REN76464;REN76465;REN76466;REN76467;REN76468;REN76469;REN76470;REN76471;REN76472;REN76473;REN76474;REN76475;REN76476;REN76477;REN76478;REN76479;REN76480;REN76481;REN76482;REN76483;REN76484;REN76485;REN76486;REN76487;REN76488;REN76489;REN76490;REN76491;REN76492;REN76493;REN76494;REN76495;REN76496;REN76497;REN76498;REN76499;REN76500;REN76501;REN76502;REN76503;REN76504;REN76505;REN76506;REN76507;REN76508;REN76509;REN76510;REN76511;REN76512;REN76513;REN76514;REN76515;REN76516;REN76517;REN76518;REN76519;REN76520;REN76521;REN76522;REN76523;REN76524;REN76525;REN76526;REN76527;REN76528;REN76529;REN76530;REN76531;REN76532;REN76533;REN76534;REN76535;REN76536;REN76537;REN76538;REN76539;REN76540;REN76541;REN76542;REN76543;REN76544;REN76545;REN76546;REN76547;REN76548;REN76549;REN76550;REN76551;REN76552;REN76553;REN76554;REN76555;REN76556;REN76557;REN76558;REN76559;REN76560;REN76561;REN76562;REN76563;REN76564;REN76565;REN76566;REN76567;REN76568;REN76569;REN76570;REN76571;REN76572;REN76573;REN76574;REN76575;REN76576;REN76577;REN76578;REN76579;REN76580;REN76581;REN76582;REN76583;REN76584;REN76585;REN76586;REN76587;REN76588;REN76589;REN76590;REN76591;REN76592;REN76593;REN76594;REN76595;REN76596;REN76597;REN76598;REN76599;RH27835;RH69037;SLC5A1_3860;stSG602480;stSG602481;stSG602482;stSG602483;stSG602484;stSG602485;stSG602487;stSG602488;stSG602489;stSG602490;stSG602491;stSG602492;stSG602493;stSG602494;stSG602495;stSG602496;stSG602497;stSG602498;stSG602499;stSG602500;stSG602501;stSG602502;stSG602503;stSG602505;stSG602506;stSG602507;stSG602508;stSG602509;stSG602510;stSG602511;stSG602512;stSG602513;stSG602514;stSG602515;stSG602516;stSG602517;stSG602518;stSG602519;stSG602520;stSG602521;stSG602522;stSG602523;stSG602524;stSG602526;stSG602527;stSG602528;stSG602529;stSG602530;stSG602531;stSG602532;stSG602533;stSG602534;stSG602535;stSG602536 D22S675;NAGT;SGLT1 Na+/glucose cotransporter 1;OTTHUMP00000028869;high affinity sodium-glucose cotransporter;sodium/glucose cotransporter 1;solute carrier family 5, member 1 APPROVED protein-coding ENSG00000100170 11036 01668 182380;606824 REVIEWED 1312203 SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012] 20 20 20 p13 835489 844006 - 688724 697228 - 740724 749228 - 6480464;7240710 16344560;16303743;15489334;14702039;12477932;11780052;22791947;20729853;19122205;20206331;17207965;20724488;22718020;21512156;22273710;22471455;22533825;23413253 113278 K0A6P4;Q9NQ40 ABBA01053758;AI244952;AK074650;AK291706;AL118502;AMYH01011661;BC009750;CH471133;DA302552;DA358731;HH961814;JX478249;NG_027687;NM_033409 AAH09750;ADQ32763;AFS68799;BAC11113;BAF84395;CBX51380;EAX10657;EAX10658;EAX10659;NP_212134;Q9NQ40 Hs.283865 1675616;1697296 RH102145;RH80917 BVVLS;BVVLS1;C20orf54;MGC10698;RFT2;RFVT3;bA371L19.1;hRFT2 OTTHUMP00000029939;OTTHUMP00000029940;hypothetical protein LOC113278;riboflavin transporter 2;solute carrier family 52 member 3;solute carrier family 52, riboflavin transporter, member 3 APPROVED protein-coding ENSG00000101276 16187 09843 211500;211530;613350 REVIEWED 731434 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. [provided by RefSeq, Sep 2009] 16 16 p11.2 31401940 31409590 + 31494439 31502091 + 1599049;1599050;737731;1580863;1626159;1625539;6480464;7240710 14614622;14506074;12436245;15449578;15466941 22314875;8244402;18622023;17505558;15610225;14702039;14569097;1415574;12477932;20965718;20980548;21048164;21165652;21830867;22079028;21410690;22528597;22673616 6524 A2RRD2;H3BP44;P31639 ABBA01042096;AC026471;AF307340;AI222550;AK054830;AMYH01007509;BC131542;CH471192;M95549;NG_012892;NM_003041 AAA36608;AAI31543;AAL66409;EAW52123;EAW52124;EAW52125;NP_003032;P31639 Hs.709195 1679167;1683633;1693740;1849376 RH69206;RH98795;SHGC-58809;SHGC-61098 SGLT2 Na(+)/glucose cotransporter 2;OTTHUMP00000163298;low affinity na-dependent glucose transporter (sglt2);low affinity sodium-glucose cotransporter;sodium/glucose cotransporter 2;solute carrier family 5 (sodium/glucose transporter), member 2;solute carrier family 5 member 2 APPROVED protein-coding ENSG00000140675 11037 08919 182381;233100 REVIEWED 6481296 SLC6A1-AS1 SLC6A1 antisense RNA 1 3 11047784 11060910 - 16344560 100874090 ABBA01025229;AC024910;AMYH01012974;DA771774;NR_046647 Hs.628542 APPROVED miscrna ENSG00000232287 40546 PREDICTED 1352176 SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008] 12 12 q23.1 100073402 100128120 - 101549994 101604016 - 6480464 15867356;18661192;18566324;18559491;18437076;18037591;17692818;17526579;17245649;16873376;16858683;16670197;16375929;15322102;15001644;14966140;12829793;12477932;12107270;19730683;19864324;20029986;20082847;20211600;20403997;20671196;20965718;23167260;23273563;21687703;21802122;22450368 160728 Q8N695 ABBA01053246;AC079953;AC225709;AF536216;AF536217;AK075263;AK313788;AMYH01004701;AY081220;BC110492;CH471054;NM_145913 AAI10493;AAL88746;AAP46193;AAP46194;BAG36525;EAW97648;EAW97649;EAW97650;EAW97651;NP_666018;Q8N695 Hs.444536 1752125 SHGC-106056 AIT;MGC125354;SMCT;SMCT1 OTTHUMP00000243936;apical iodide transporter;electrogenic sodium monocarboxylate cotransporter;sodium iodide-related cotransporter;sodium-coupled monocarboxylate transporter 1;solute carrier family 5 member 8 APPROVED protein-coding 19119 10475 608044 VALIDATED 731751 SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009] 19 19 p13.11 17843782 17865897 + 17982782 18005983 + 1624273;1580863;6480464;7240710 9171822 9388506;19241193;19196800;19029227;18708479;18628528;18509003;18339708;18202121;18187871;18077370;17938324;17726079;17696829;17408651;17297475;17214887;17164311;16990649;16982034;16954431;16391203;16335670;16264365;15976004;15968416;15919754;15562032;15522214;15489334;15472226;15340050;15215159;15068624;15062579;15062578;15057824;15009910;14630715;12720543;12679487;12602914;12588808;12477932;12475396;12351692;12161518;12039073;12021185;11575851;11231356;11170832;10893432;10487695;9814502;9745458;9709973;9657379;9492156;9486973;9398697;9329364;9231811;8806637;3998954;3451231;2249482;1410443;21702220;18500672;19124451;19618116;19706688;19916865;20620544;20153805;20213084;21092238;21428212;21209020;20797386;20961282;15961562;20479570;21587211;21521301;23134812;23342072;17854396;21988488;21989446;22157753;22510021;22545753;22962269;22982218;23117572;23163107;22781452;22954554;23255420;15123239;23174149 6528 Q92911;Q9UEU3 ABBA01051233;ABBA01051234;ABBA01051235;AC005796;AF059566;AF260700;AMYH01009578;BC105047;BC105049;BX648217;CH471106;D87920;NG_012930;NM_000453;U66088 AAB17378;AAC14697;AAC62827;AAF70339;AAI05048;AAI05050;BAA24835;EAW84643;NP_000444;Q92911 Hs.584804 2144113;5015861;5022425;5022576;5037552;5109281;7185938 D10S16;D1S1361;D1S1425;D22S296;D8S2279;STS-U66088 NIS;TDH1 Na(+)/I(-) cotransporter;Na(+)/I(-) symporter;Na(+)/I(-)-symporter;sodium/iodide cotransporter;solute carrier family 5 (sodium iodide symporter), member 5;solute carrier family 5 member 5;solute carrier family 5, member 5 APPROVED protein-coding ENSG00000105641 11040 03504 274400;601843 REVIEWED 1322816 SLC5A9 solute carrier family 5 (sodium/sugar cotransporter), member 9 1 1 1 p33 46975128 47001092 + 48460991 48486903 + 48688357 48714316 + 6480464 15607332;12477932;20800603 200010 B4DJL5;E9PJ08;F8WD86;H0Y5P9;H0YC92;Q2M3M2 ABBA01050804;AI767388;AK131200;AK296133;AK311580;AL109659;AMYH01000599;BC025411;BC032417;BC048332;BC104857;BC104863;BC143570;BC143572;BC143587;BX648549;CH471059;NM_001011547;NM_001135181 AAI04858;AAI04864;AAI43571;AAI43573;BAG54749;BAG58877;EAX06857;EAX06858;EAX06859;NP_001011547;NP_001128653;Q2M3M2 Hs.37890 1672834;1675680 D1S1696;RH93027 MGC132517;MGC132523;SGLT4 Na(+)/glucose cotransporter 4;OTTHUMP00000009658;OTTHUMP00000211038;OTTHUMP00000229424;hSGLT4;sodium/glucose cotransporter 4;solute carrier family 5 member 9 APPROVED protein-coding ENSG00000117834 22146 18060 VALIDATED 1348839 SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM, Mar 2008] 2 2 q12 107969427 107996876 + 108602995 108630439 + 1580863;6480464;7240710 12237312;11068039;11027560;17005849;16876130;15815621;15784779;15489334;15450352;15090548;14623932;12969261;12628461;12477932;12406342;20379614;20490865;21163949;23132865;23141292;23392663;21337021;22361880;22483271;22483273 60482 F5H382;Q9GZV3 AB043997;AB084377;ABBA01000751;ABBA01000752;AC009963;AF276871;AJ308378;AJ401466;AK300801;AK315280;AMYH01010852;AMYH01010853;BC111524;BC111525;CH471182;NM_021815 AAG25940;AAI11525;AAI11526;AAY14927;BAB18161;BAG37689;BAG62459;CAC03717;CAC88115;EAW53893;NP_068587;Q9GZV3 Hs.287758 1339319;2108505 D2S274;SLC5A7_8079 CHT;CHT1;HMN7A;MGC126299;MGC126300;hCHT OTTHUMP00000161574;OTTHUMP00000203760;hemicholinium-3-sensitive choline transporter;high affinity choline transporter 1;high affinity choline transporter; hemicholinium-3-sensitive choline transporter;solute carrier family 5 member 7 APPROVED protein-coding ENSG00000115665 14025 12294 158580;608761 PROVISIONAL 69654 SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 2 2 p23 27275962 27288575 - 27422455 27435175 - 68917;1580863;6480464 9516450 21570947;19211916;17904341;17135299;16959947;16749865;16344560;16303743;15561972;14702039;12646417;12477932;11955628;11834205;10334869;10329687;19898482;16751776;20962270;20980265;22304562;22732670;21183659;15123239;22015582;23142496;21139048;21890473;21906983;21963094;21988832;22927035;23000965 8884 E7EMX0;E7ENG0;E7ENN0;E7EP02;E7ERE1;E7EW41;E7EW78;E7EXC0;Q9HD19;Q9Y289 ABBA01045198;ABBA01045199;AC013403;AF069307;AF081571;AF116241;AF288781;AF442149;AF442150;AK027855;AK075078;AK293162;AK314545;AL096737;AMYH01010195;BC012806;BC015631;BG025980;BI832199;BQ651664;CH471053;DA958474;DB452476;N30242;NM_021095;NR_028323 AAD31727;AAD37481;AAD37502;AAG00587;AAH12806;AAH15631;AAL84706;AAL84707;AAX93172;ABW03592;BAC11387;BAG37132;BAG51384;BAG56706;CAH56408;EAX00620;EAX00621;EAX00622;EAX00623;NP_066918;Q9Y289 Hs.435735 1698840;1721363;1725669;1792882;1847850;2129857;2147794;2147796;2149313 A001U43;G19673;G59682;G62043;PMC166200P4;RH102984;RH45117;RH45418;WI-19577 SMVT Na(+)-dependent multivitamin transporter;Na+-dependent multivitamin transporter;OTTHUMP00000122593;OTTHUMP00000201025;sodium-dependent multivitamin transporter;solute carrier family 5 (sodium-dependent vitamin transporter), member 6;solute carrier family 5 member 6 APPROVED protein-coding ENSG00000138074 11041 04934 604024 VALIDATED 1343735 SLC6A10P solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene 16 16 p11.2 32796298 32803964 - 32888797 32896463 - 6480464 16125675;12477932;9154116;8817324;8661037 386757 Q6ZUB2 ABBA01118520;AC142086;AK125843;AMYH01007568;BC117243;NR_003083;U41163 AAA96028;BAC86314 Hs.433146 CT-2;CT2;FLJ43855;SLC6A10;SLC6A10pA;SLC6A10pB similar to sodium- and chloride-dependent creatine transporter;solute carrier family 6 (neurotransmitter transporter, creatine), member 10 APPROVED pseudo ENSG00000214617 11043 13479 PROVISIONAL 731475 SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al., 2009 [PubMed 19077666]).[supplied by OMIM, Jul 2009] 3 3 p25.3 11009453 11055935 + 11034420 11080935 + 1580863;1643191;1643202;1643208;1643214;1643219;1643206;1643209;1643205;1643217;6480464 11191352;15976529;15149801;12196583;12111474;15248296;15084665;15349978;17918738 8530094;2387399;19201752;19086053;19077666;19058789;18846501;18821565;18607529;18367207;18005940;17994179;17967412;17941974;17544870;17440935;17210573;17099065;16344560;15905165;15496410;15106822;14744863;14702039;12925537;12477932;12446715;11960023;11744314;11555659;11017172;10640187;10197772;9698305;9623887;9512391;9195904;8995422;20655483;19622377;20237276;21131297;21098479;22737235;17500595;22235131;22437554;23288838 6529 B7Z3C5;C9J5P8;P30531 ABBA01025229;AC024910;AK090958;AK295702;AMYH01012974;BC033904;BC057291;CH471055;DA162953;NM_003042;X54673 AAH33904;ABM82148;ABM85331;BAH12161;CAA38484;EAW64088;EAW64089;EAW64090;NP_003033;P30531 Hs.443874 1652189;1700458;1796840;2152446;5024270;5492373 D3S3997;RH103850;SGC30830;SLC6A1_849;Slc6a1;WI-14944 GABATHG;GABATR;GAT1 GABA transporter 1;GAT-1;OTTHUMP00000041132;gaba transporter protein;sodium- and chloride-dependent GABA transporter 1;solute carrier family 6 member 1 APPROVED protein-coding ENSG00000157103 11042 00664 137165 VALIDATED 732372 SLC6A11 solute carrier family 6 (neurotransmitter transporter), member 11 Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11 (Borden et al., 1994 [PubMed 7874447]).[supplied by OMIM, Nov 2010] 3 3 3 p25.3 10793362 10915588 + 10832917 10955146 + 10857917 10980146 + 1580863;1643196;1299345;6480464 17408599;13678673 18334916;12477932;19450549;19086053;7874447;1400419;19874574;20379614;20424473;22491018;21776001 6538 P48066;Q8IYC9 ABBA01025230;AC018495;AC027128;AK312719;AMYH01012972;AMYH01012973;BC036083;CH471055;CS409836;NM_014229;S75989 AAB33570;AAH36083;AAI52736;BAG35593;CAL40956;EAW64086;EAW64087;NP_055044;P48066 Hs.657405 1675182;1754887;1760867;1761513;2142686;2142688;2163700 A001T39;G19637;RH18458;SHGC-141816;SHGC-144538;SHGC-145517;SHGC-36836 GAT-3;GAT3;GAT4 GABA transporter 3;OTTHUMP00000160132;sodium- and chloride-dependent GABA transporter 3;solute carrier family 6 member 11 APPROVED protein-coding 11044 06406 607952 PROVISIONAL 731509 SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12 12 12 p13 169513 192753 - 299243 323371 - 1580863;6480464 19204726;19086053;16344560;16198020;14702039;12477932;12111824;10228153;7861179;7589472;18195088;20424473;20597903;20383146;22405821;21367462;15123239;23378610 6539 F5H2T6;F5H4L6;P48065 ABBA01048857;AC007406;AI241640;AK096046;AK125026;AK131564;AK307167;AK313690;AMYH01004166;BC026339;BC036838;BC126215;BC126217;CH471116;DA093632;DA390883;DA406088;DA638367;L42300;NM_001122847;NM_001122848;NM_001206931;NM_003044;U27699 AAA66574;AAA87029;AAI26216;AAI26218;ADR83067;BAD18697;BAG36439;BAG53203;BAG54125;EAW88975;EAW88976;EAW88977;EAW88978;NP_001116319;NP_001116320;NP_001193860;NP_003035;P48065 Hs.437174;Hs.737267 1657038;1659010;1792202;1798200;2117104 G41013;PMC139224P1;RH79135;SLC6A12_1341;WI-18098 BGT-1;BGT1;FLJ38727;GAT2 Na(+)/Cl(-) betaine/GABA transporter;OTTHUMP00000115358;OTTHUMP00000237543;OTTHUMP00000237583;betaine/GABA transporter-1;gaba transporter;gamma-aminobutyric acid transporter;sodium- and chloride-dependent betaine transporter;solute carrier family 6 member 12 APPROVED protein-coding ENSG00000111181 11045 04358 603080 VALIDATED 733725 SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 12 12 12 p13.3 1938637 1980875 - 200052 242263 - 329787 372039 - 1580863;6480464 19450549;15252450;22932902;19086053;17502375;16125675;12477932;11824941;1400419;19913121;20628086;19874574;20379614;20383146;20398908;20424473;16344560;8889548;23275563;23378610 6540 F5GZA5;F5H5D9;F5H6S9;Q9NSD5 ABBA01048857;AC007406;AF462445;AI802118;AK295904;AK296127;AK296209;AK313511;AMYH01004166;BC020867;BC022392;BM662288;CH471116;DA374290;DB540466;DQ786244;NM_001190997;NM_001243392;NM_016615;U76343 AAF64247;AAH20867;AAH22392;AAP97713;ABM82951;ABM86143;BAG36291;BAG58695;BAG58873;BAG58935;EAW88972;EAW88973;EAW88974;NP_001177926;NP_001230321;NP_057699;Q9NSD5 Hs.504398;Hs.733878 1663660;1689047;1794396;2142294;2159322 D12S1256;D12S2046;PMC311068P1;RH93085;WI-17955 GAT-2;GAT2;GAT3 GABA transport protein;GABA transporter 2;OTTHUMP00000237738;sodium- and chloride-dependent GABA transporter 2;solute carrier family 6 member 13 APPROVED protein-coding ENSG00000010379 11046 10239 615097 VALIDATED 1353315 SLC6A16 solute carrier family 6, member 16 SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008] 19 19 19 q13.33 46659740 46695326 - 54484701 54520286 - 49792889 49828474 - 737637;1580863;6480464 11112352 12477932;11230166;10471414 28968 M0QYK3;M0QZL4;M0R1Y6;M0R2R5;Q8IYV4;Q9GZN6 ABBA01032933;ABBA01032934;ABBA01032935;AC011450;AF151977;AF265578;AL136856;AMYH01009911;AW451672;BC034948;BG772801;CH471177;NM_014037 AAD38044;AAG41362;AAH34948;ADZ15362;CAB66790;EAW52464;NP_054756;Q9GZN6 Hs.130949 1652503;1698040;1857441;2107609;2170188 RH102551;SGC34294;SHGC-34723;SHGC-58287;SLC6A16__6852 NT5;NTT5 orphan sodium- and chloride-dependent neurotransmitter transporter NTT5;solute carrier family 6 (neurotransmitter transporter), member 16 APPROVED protein-coding ENSG00000063127 13622 607972 VALIDATED 1604954 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008] 5 5 p15.33 1254766 1275019 + 1201710 1225232 + 6480464;7240710 19335424;19322909;18671945;18484095;17555458;15286788;15286787;15044460;14702039;11394870;20399395;18195088;20883558;21964291;23234856 340024 E9PD72;Q695T7 ABBA01034208;AC114291;AI015994;AK000687;AK091954;AK096054;AK123779;AK290811;AMYH01014853;AMYH01014854;AMYH01014855;AY591756;AY596807;CH471102;NG_008282;NM_001003841 AAI46291;AAI48802;AAT42127;AAT66171;BAF83500;BAG53204;BAG53960;EAX08174;EAX08175;NP_001003841;Q695T7 Hs.481478 B0AT1;FLJ20680;FLJ34635;HND OTTHUMP00000220493;sodium-dependent amino acid transporter system B0;sodium-dependent neutral amino acid transporter B(0)AT1;solute carrier family 6 (neurotransmitter transporter), member 19;solute carrier family 6 member 19;system B(0) neutral amino acid transporter AT1;system B0 neutral amino acid transporter APPROVED protein-coding ENSG00000174358 27960 10596 138500;234500;242600;608893 REVIEWED 2303486 SLC6A21P solute carrier family 6, member 21, pseudogene 19 19 q13.33 46622473 46626480 - 49755590 49759597 - 16125675 652969 ABBA01032935;AC008891;AMYH01009911;NG_009578 SLC6A21 APPROVED pseudo 31400 INFERRED 1346320 SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010] 5 5 5 p15.33 1262353 1283111 + 1278470 1299303 + 1225470 1246304 + 737633;1580863;6480464 12477932 19478081;18554081;16340170;16125675;15489334;15286787;14702039;18195088;19692168;21420947 348932 E7EML8;Q96N87 ABBA01034207;ABBA01034208;AC114291;AK055798;AK298257;AMYH01014855;AMYH01014856;AY007685;BC056757;CH471102;NM_182632 AAG23290;AAH56757;BAB71018;BAG60521;EAX08172;EAX08173;NP_872438;Q96N87 Hs.213284 FLJ31236;Xtrp2 OTTHUMP00000115414;sodium channel-like protein;sodium- and chloride-dependent transporter XTRP2;sodium-dependent neutral amino acid transporter B(0)AT3;solute carrier family 6 (neurotransmitter transporter), member 18;system B(0) neutral amino acid transporter AT3 APPROVED protein-coding ENSG00000164363 26441 15396 610300 VALIDATED 1347984 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010] X X q23 115481818 115506651 + 115567747 115592625 + 1625271;1625272;1625275;1625278;1580863;6480464;7240710 15331564;17065219;17006743;15300171 12477932;10446133;18700007;18599538;18029348;15905073;15772651;15489334;14660752;12388375;10999806;19913121;20628086;16344560;17575980;18195088;19876004;22466613 11254 Q9UN76 ABBA01049248;ABBA01049249;ABBA01049250;ABBA01049251;AC241580;AF151978;AK304243;AK313390;AL034411;AMYH01022870;BC093710;BC093712;CH471234;DB207650;NG_021305;NM_007231;Z96810 AAD49223;AAH93710;AAH93712;BAG36188;BAG65111;CAI42799;CAI43081;EAW51500;EAW51501;NP_009162;Q9UN76 Hs.522109 1335143;1689865;1796838;5106120 DXS6804;RH93168;SLC6A14;SLC6A14_411.2 ATB(0+);BMIQ11 OTTHUMP00000023880;amino acid transporter ATB0+;amino acid transporter B0+;sodium- and chloride-dependent neutral and basic amino acid transporter B(0+);solute carrier family 6 (neurotransmitter transporter), member 14;solute carrier family 6 member 14 APPROVED protein-coding ENSG00000087916 11047 02344 300306;300444 REVIEWED 1603474 SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17 The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008] 1 1 1 p13.3 108940307 108992002 + 110494631 110546347 + 110693132 110744824 + 6480464 19147495;16710414;16344560;16125675;14702039;12477932;20379614;21906983;22589738;21963094 388662 Q6ZV87;Q9H1V8 ABBA01068388;AK054687;AK124875;AK289982;AK297429;AL137437;AL137790;AL355990;AL833249;AMYH01000942;BC140908;CH471122;DA081361;DA325382;NM_001010898 AAI40909;BAC85976;BAF82671;BAG59857;EAW56432;NP_001010898;Q9H1V8 Hs.128382 1337741;1678113;1699046;1722921;1729175;2107611;2136646;2144385 D1S2695;G60557;RH103098;RH94096;SHGC-30398;SLC6A17__6853;WI-19280;WI-9875 NTT4 OTTHUMP00000013508;orphan sodium- and chloride-dependent neurotransmitter transporter NTT4;sodium-dependent neurotransmitter transporter NTT4;sodium-dependent neutral amino acid transporter SLC6A17;solute carrier family 6 (neurotransmitter transporter), member 17 APPROVED protein-coding ENSG00000197106 31399 18061 610299 VALIDATED 1603308 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 45734543 45775644 - 45771946 45812966 - 45796941 45838035 - 6480464;7240710 15632147;15308626;12477932;11352561;9932288;18195088;19657969;22610502;19033659;21572414 54716 B7ZLW4;C9JIN6;Q9NP91 ABBA01024721;AC098476;AF075260;AF125107;AJ276207;AJ276208;AJ289880;AL389979;AMYH01013130;BC036073;BC126197;BC136431;BC144087;CH471055;DR006419;EL949345;NG_023204;NM_020208;NM_022405 AAC27755;AAI26198;AAI36432;AAI44088;AAL75944;ADR83334;CAB96872;CAB97535;CAB99310;CAB99311;EAW64747;EAW64748;NP_064593;NP_071800;Q9NP91 Hs.413095 2112690 D3S4405 MGC161475;SIT1;XT3;Xtrp3 OTTHUMP00000164648;OTTHUMP00000164649;X transporter protein 3;neurotransmitter transporter RB21A;orphan transporter XT3;sodium- and chloride-dependent transporter XTRP3;sodium/imino-acid transporter 1;solute carrier family 6 (neurotransmitter transporter), member 20;transporter rB21A homolog APPROVED protein-coding ENSG00000163817 30927 16128 138500;242600;605616 REVIEWED 1344650 SLC6A6P1 solute carrier family 6, member 6 pseudogene 1 21 21 21 q21.1 5792009 5794011 + 19538583 19540585 + 20616712 20618714 + 19240061;10830953 54019 ABBA01057144;AMYH01012156;AP000855;AP001675;NG_000901 SLC6A6P APPROVED pseudo 11053 INFERRED 735866 SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 12 12 12 q21.3 84916853 84970192 - 83777398 83830705 - 85253267 85306608 - 737637;1580863;6480464 11112352 22889411;19147495;16344560;16226721;16185194;15489334;14702039;12477932;10471414;8889548;18195088;21521612;21139048;21890473;21987572;22053931 55117 F8VRN9;F8VSG1;F8VVE6;F8VX16;F8VZC8;F8WJN6;Q8IXG2;Q9H2J7;Q9NW50 ABBA01053446;AC018922;AF265577;AF351619;AI368909;AK001178;AK022853;AK291207;AK294945;AL050066;AMYH01004633;AMYH01004634;BC022253;BC070040;BE535587;BM696062;CF529868;CH471054;CR749673;DA247242;NM_001146335;NM_018057;NM_182767 AAG41361;AAH22253;AAH70040;AAN76519;BAA91536;BAB14274;BAF83896;BAH11933;CAH18464;EAW97388;EAW97389;EAW97390;NP_001139807;NP_060527;NP_877499;Q9H2J7 Hs.44424 1647088;1667115;1683265;1746305;1746401;1746917;1753013;1857852;2109857;2130313;2130807 A004A20;D12S1214E;G64529;G64530;G64783;RH45707;RH92709;SHGC-30472;SHGC-53313;SHGC-68514;SLC6A15_9875 DKFZp761I0921;FLJ10316;MGC87066;NTT73;SBAT1;V7-3;hv7-3 OTTHUMP00000241973;OTTHUMP00000241974;OTTHUMP00000241979;homolog of rat orphan transporter v7-3;orphan sodium- and chloride-dependent neurotransmitter transporter NTT73;orphan transporter v7-3;sodium- and chloride-dependent neurotransmitter transporter NTT73;sodium-coupled branched-chain amino-acid transporter 1;sodium-dependent neutral amino acid transporter B(0)AT2;sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7;solute carrier family 6 (neurotransmitter transporter), member 15;solute carrier family 6 member 15;solute carrier family 6, member 15;transporter v7-3 APPROVED protein-coding ENSG00000072041 13621 12141 607971 VALIDATED 733809 SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009] 5 5 p15.3 1445909 1498538 - 1392905 1445543 - 1358582;1625653;1625655;1625656;1625663;1625668;1580863;734997;6480464;6907045;7240710 12915833;16674552;12490667;9074541;15680936;14698456;9888856 19304505;19288168;19247849;19196467;19193883;19183461;19176830;19156168;19152006;19146920;19142409;19120712;19104049;19098122;19091889;19086053;19058789;19025233;18973248;18937842;18937294;18841010;18831910;18826446;18821566;18810510;18802924;18802919;18788325;18779819;18769827;18762727;18729135;19309018;18720903;18704100;18690118;18690117;18676680;18668530;18665883;18636124;18588943;18580852;18563707;18563706;18559107;18553640;18553389;18552399;18504048;18468730;18446263;18444252;18434921;18434601;18426798;18404133;18393256;18374902;18366104;18361424;18331164;18327668;18270970;18239643;18216182;18214865;18214864;18206700;18197081;18197080;18188752;18181793;18174826;18165969;18094849;18088380;18081165;18070248;18053732;18046306;18045777;18023044;18004640;17979508;17965994;17955458;17955457;17934207;17928119;17907820;17893706;17873367;17711354;17705902;17704152;17692827;17690944;17689985;17679637;17671965;17654295;17633563;17621383;17608284;17582621;17579611;17579368;17579365;17549062;17539957;17526637;17525955;17508996;17508355;17501935;17500623;17485610;17483451;17466074;17449559;11343649;16024787;10823899;19519258;19513381;19506906;19506579;19494806;19490304;19482231;19478460;19418498;19409950;19390575;19388000;19376159;19368898;19364291;19360691;19352220;19352218;16585476;16569110;16545000;16537431;16526040;16526026;16424823;16406146;16402340;16389711;16389200;16368111;16342279;16309561;16261167;16222334;16216085;16201143;16178931;16178930;16171832;16168728;16165273;16139170;16125912;16123773;16110277;16109712;16109590;16103889;16082693;16082688;16041244;15996968;15993876;15940306;15924135;15872345;15845322;15827573;15823165;15809660;15768394;15763138;15724142;15722958;15708296;15683546;15608954;15605097;15602501;15567077;15542698;15492001;15381926;15380858;15370155;15274029;15229055;15211638;15210531;15202772;15193761;15190232;15148564;15135042;15094788;15091313;15069467;15024426;15024013;14978671;14732864;14732464;14685824;14681904;14660644;14597628;14584093;14570538;14519759;12947560;12931138;12898575;12874502;12859681;12815660;12773538;12746456;17449448;17440978;17440951;17440935;17439486;17432702;17427194;17427187;17413453;17403983;17392738;17325714;17316573;17314918;17267664;17264803;17255098;17250655;17245411;17225991;17192955;17191306;17187291;17175058;17171650;17157268;17150335;17135598;17130883;17120049;17109713;17079728;17063150;17044101;17044099;17042887;17028370;17023870;16963468;16930369;16917950;16894395;16818870;16783497;16782077;16760197;16741944;16712949;16710758;16702979;16671078;16623961;16611807;16604301;12708251;12707943;12707931;12740596;12686408;12672538;12660802;12658362;12650952;12630565;12605102;12579508;12513948;12477932;12465073;12464618;12459514;12457396;12453630;12429746;12422069;12401557;12232785;12215242;12210886;12177201;12173460;12172219;12149916;11989984;11959130;11911442;11834311;11820798;11807408;11803445;11803442;11798784;11774209;11558224;11505915;11449401;11378848;11304827;11292651;11244477;11239904;11220753;11165777;11140838;11104840;10889531;10391209;10363710;9837830;9703165;9398650;9300814;8628395;8302271;7717410;7637582;1406597;1359373;1353885;16237680;14550771;22366190;21149640;21290414;21150814;21299752;20957668;20551163;20580759;20593420;20602615;20603187;20620172;20631685;20661460;20672519;20678555;20685009;20731709;20736997;20800641;20817043;16885233;17260170;17380124;18583979;19170196;19443134;19447357;19450132;19576958;19590515;19590691;19621370;19625176;19647327;19655343;19664686;19666577;19673036;19676101;19692168;19693267;19717274;19739106;19740369;19761593;19764480;19764934;19766158;19766189;19767592;19769301;19772578;19779799;19789190;19796878;19805704;19818050;19819301;19827313;19844206;19858760;19874574;19879111;19884604;19890261;19892410;19906444;19944766;19956635;19960520;20006992;20026227;20033274;20041956;20049490;20051513;20053379;20074437;20086298;20091113;20098830;20117122;20132487;20146095;20170711;20179766;20205808;20210499;20218802;20332413;20367960;20391341;20427663;20430042;20450954;20459035;20461808;20464528;20468064;20493539;20497233;20505554;20505557;20856247;21113497;21295544;20688912;20338240;20933528;12958153;20161733;20554017;20141527;21112253;20732903;20734064;20845394;20862259;20960275;21041608;21049181;21050355;21078357;21083670;20463658;20739786;20548783;21799208;22119468;19728374;20700532;20957647;21147099;20644949;21298009;21491204;21596533;21272388;21399631;21516943;23161550;20021740;22646917;22177721;22683321;22047966;22723947;21171728;21716015;21232548;21354244;21644994;21595008;20631684;22156764;22778840;23340505;21802993;23808292;21876545;22454241;22939506;17948872;19726478;20141587;21207241;21957239;21304140;21672565;21826203;21873779;23137414;23185343;22958175;21801841;21990355;23398760;21609749;22160470;22162768;22163275;22279524;22427685;20953736;21525861;21554332;22006250;22438994;21176997;21247255;21404331;21445667;21889247;22082040;22138326;22157025;22182296;22408582;22514303;21883027;22103304;22113132;22689927;22691013;22711722;14756560;22342155;22733030;18617632;22810728;21812871;22940645;22832428;23065263;23076524;22494359;22682503;22698582;15123239;22435397;20962236;21538554;22081881;22745713;22819977;22844499;23034259 6531 H0YBA7;H0YBU0;Q01959 ABBA01034203;ABBA01034204;AC026748;AF119117;AF321321;AI586989;AK310589;AMYH01014857;AMYH01014858;AY623110;BC132977;BC133003;CH471102;CS223367;D88570;EF174603;HH935282;HI939012;HI939125;HI939238;HI987308;HI988463;HI988576;JA032831;JA033038;JA033639;JA142861;JA188612;JA188725;JA282299;JA288764;JA421398;L24178;M95167;M96670;NG_015885;NM_001044;S44626;S46955;U92262;Y10141 AAA11754;AAA19560;AAA35770;AAB23443;AAC41720;AAC50179;AAC51876;AAG33844;AAI32978;AAI33004;AAT38106;ABO77644;BAA22511;CAA71229;CAJ46923;CBX36861;CBY79733;CBY79752;CBY79771;CBY88727;CBY88755;CBY88774;CCA61663;CCA61682;CCA61701;CCA64028;CCA64149;CCA64168;CCA65378;CCA65409;CCD32738;EAX08158;EAX08159;EAX08160;NP_001035;Q01959 Hs.406 1744145;5120059 GDB:194281;GDB:392133 DAT;DAT1;PKDYS DA transporter;OTTHUMP00000161635;dopamine transporter 1;sodium-dependent dopamine transporter;solute carrier family 6 (neurotransmitter transporter, dopamine), member 3;solute carrier family 6 member 3;solute carrier family 6, member 3 APPROVED protein-coding ENSG00000142319 11049 00543 126455;143465;188890;613135 REVIEWED 731947 SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2 This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] 16 16 q12.2 54248057 54295201 + 55689542 55740104 + 1624279;1624278;1580863;6480464;6218960;7240710 17124432;10684912;18800064 18937309;12787070;11707293;16024787;2008212;11343649;18029348;19506906;19387424;19365399;19352218;19105200;19095219;19086053;19058789;18937296;18821566;18821565;18821564;18779921;18702937;18629431;18617423;18591486;18552510;18511195;18259012;18214863;18197080;18196892;18187607;18163388;18089827;18085566;18081710;17994190;17955457;17920180;17917281;17876324;17845831;17654409;17630229;17621171;17475971;17428804;17404580;17353941;17239355;17156375;17146058;17032905;16969268;16965261;16848906;16741933;16712949;16573647;16538182;16272960;16242784;16189177;16092934;15963952;15946904;15900230;15763139;15763138;15757904;15722184;15717291;15539861;15485485;15362567;15337646;15322419;15138209;15135235;15118352;14726430;14675164;14620922;12805287;12629174;12589229;12480177;12477932;12401556;12374639;12210284;12210281;12140790;12127072;12097806;11927173;11920844;11875370;11744160;11739781;22311378;22544311;10037744;9808705;9655936;8478011;7905857;7488042;19913121;20628086;20681272;20818294;16344560;19468717;19483189;19564048;19649213;19685476;19693267;19698724;19721846;19727679;19808400;19844206;19858760;19874574;19944766;20017301;20332182;20351714;20398908;20424473;20468064;20491280;20691427;20863575;20929549;21070505;20588071;20700532;21149640;23086945;21412203;21498515;22591463;21569456;21416264;21883217;22297068;21739117;21885739;23185385;22405810;22533655;15719398;22234472;22723437;18331289 6530 B4DX48;H3BM11;H3BML6;H3BMY5;H3BRE9;H3BRS0;I3L368;P23975 AB022846;AB022847;ABBA01066526;AC136621;AF061198;AK301811;AK310410;AK312793;AMYH01007681;AU132072;BC000563;BC039309;BC060831;CH471092;DA853047;M65105;NG_016969;NM_001043;NM_001172501;NM_001172502;NM_001172504;X91117;X91119 AAA59943;AAD17521;AAH00563;AAI56904;BAA82110;BAA82111;BAG35654;BAG63260;CAA62566;CAC39181;EAW82831;EAW82832;EAW82833;EAW82834;EAW82835;NP_001034;NP_001165972;NP_001165973;NP_001165975;P23975 Hs.78036 1653915;1765647;1787594;2126130 D16S3351;SHGC-149089;SHGC-155920;SHGC-61051 NAT1;NET;NET1;SLC6A5 OTTHUMP00000164270;neurotransmitter transporter;norepinephrine transporter;sodium-dependent noradrenaline transporter;solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2;solute carrier family 6 member 5 APPROVED protein-coding ENSG00000103546 11048 01232 163970;604715 REVIEWED 732096 SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 1 1 p33 44234742 44269721 - 44462155 44497164 - 1580863;6480464 22705056;8183239;19427831;19086053;18638388;18411704;17582620;16841561;16604304;16121932;15146197;12091465;11360303;11159884;10722844;10625616;10606742;8494645;7721869;7587377;19556729;19650813;7595479;21628872;21688322;21139048;21906983;16344560;22425803 6536 B7Z3A9;B7Z3W8;B7Z589;B7Z9G8;E9PJ65;E9PLM5;J3KPA5;P48067 ABBA01050934;AI884725;AK296438;AK298611;AK304057;AK311136;AK315233;AK315933;AL139220;AMYH01000564;AMYH01000565;AMYH01000566;CH471059;CN354684;CR749669;DA403430;NM_001024845;NM_001261380;NM_006934;NM_201649;NR_048548;NR_048549;S70609;S70612 AAB30784;AAB30785;AAI56980;BAH12354;BAH12825;BAH14101;BAH14304;EAX07054;EAX07055;EAX07056;EAX07057;NP_001020016;NP_001248309;NP_008865;NP_964012;P48067 Hs.442590 1337080;1669277;2186842 D1S2733;RH70220;RH78692 DKFZp547A1118;GLYT1 OTTHUMP00000010004;OTTHUMP00000010005;OTTHUMP00000010006;OTTHUMP00000231267;OTTHUMP00000231268;OTTHUMP00000231269;glyT-1;glycine transporter 1;sodium- and chloride-dependent glycine transporter 1;solute carrier family 6 member 9 protein-coding ENSG00000196517 11056 03010 601019 VALIDATED 732915 SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. [provided by RefSeq, Oct 2009] 11 11 p15.1 20577522 20633186 + 20620946 20676610 + 1580863;6480464 9845349;19086053;18638388;16884688;16751771;16691125;15489334;15124103;14675166;12738009;12477932;12091465;11709067;11036075;10606742;10381548;10722844;22700964;22753417;20859245;20934189;15276154;19650813;20219997;20424473;21397641;22889411;23251661 9152 J3KNC4;Q4VAM5;Q4VAM6;Q9Y345 AA625644;ABBA01061027;ABBA01061028;ABBA01061029;AC090707;AF085412;AF117999;AF142501;AF352733;AMYH01003435;AMYH01003436;BC096319;BC096320;BC096321;BC096322;CH471064;NG_013086;NM_004211 AAC95145;AAD27892;AAH96319;AAH96320;AAH96321;AAH96322;AAK12641;AAK29670;EAW68330;NP_004202;Q9Y345 Hs.136557 1342404;1722911;1737999;1761801 D11S3601;D11S4114;G60550;SHGC-145762 GLYT-2;GLYT2;HKPX3;NET1 OTTHUMP00000231736;glycine transporter 2;sodium- and chloride-dependent glycine transporter 2;solute carrier family 6 member 5 APPROVED protein-coding 11051 08378 604159;614618 REVIEWED 69004 SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 3 3 p25.1 14419110 14505861 + 14444106 14530857 + 1580863;6480464 8010975;19423693;18703994;16956961;16356117;15907840;15630186;15225620;15166008;12681485;12477932;12163498;12062416;8889548;8654117;8382624;1518851;18195088;19074966;19602579;19734545;20424473;11140363;12871209;12908594;12908596;12908598;15142033;15701671;16729199;17153588;17153592;18501699;21963094;23000965;7774940;7881434;21139048;21890473;21906983;21987572;21739148;23006423;23392873;23392891;23392892 6533 AAB25509;C9JPV1;E9PDM3;F8WF95;H7C1B9;P31641 AB209172;ABBA01025158;ABBA01025159;AC090941;AC090952;AC093496;AF346763;AK303649;AK307284;AK308417;AK309534;AMYH01012996;BC006252;BC111489;BC137128;BC137129;BC144490;BM149397;BM873716;BM981004;BQ945675;BU625571;BX478649;BX509263;BX510251;CA448606;CD366732;CH471055;DC359099;NM_001134367;NM_001134368;NM_003043;NR_103507;U09220;U16120;Z18956 AAA50842;AAB25509;AAC50443;AAH06252;AAI11490;AAI37129;AAI37130;AAK30132;BAD92409;BAG64652;CAA79481;EAW64192;EAW64193;EAW64194;EAW64195;NP_001127839;NP_001127840;NP_003034;P31641 Hs.529488 1649431;1668056;1730269;1734264;1788894;1788896;2122344;2137114 D3S1325E;D3S2754E;D3S3892;D3S4548;G67700;G67701;SHGC-31156;STS-M78677 MGC10619;MGC131729;TAUT OTTHUMP00000208177;OTTHUMP00000208180;sodium- and chloride-dependent taurine transporter;solute carrier family 6 member 6;solute carrier family 6, member 6;taurine transporter APPROVED protein-coding ENSG00000131389 11052 01734 186854 REVIEWED 732932 SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008] 17 17 q11.2 25549032 25586841 - 28523376 28562954 - 1580639;1358567;1624295;1580863;4889460;4889466;4889442;4889509;4889434;4889462;4889426;4889435;4889437;4889474;4889430;4889438;4889445;4889516;4889432;4889440;4889463;4889441;6480660;6480658;6480464;7240710 10381332;15749247;14593431;19806585;15867649;16339917;18295409;19556740;19014073;20981038;19473340;18074800;20447560;19886858;17307423;11259539;17711618;19736308;16399993;16215942;16380550;20838391;22014438 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6532 AAB26687;B2R7Y7;J3KPR9;J3QKP3;P31645 AA700070;ABBA01015002;ABBA01015003;ABBA01015004;AC104984;AF233399;AK308014;AK309538;AK313166;AMYH01008300;AU138385;AY902473;BC069484;BE645279;BQ017027;BX399758;CH471159;CS008504;DC345903;EU099989;L05568;NG_011747;NM_001045;U79746;X70697;X76753;X76754;X76755;X76756;X76757;X76758;X76759;X76760;X76761;X76762 AAA35492;AAB26687;AAB93475;AAF61945;AAH69484;AAW80933;ABV02581;BAG35984;CAA50029;CAI53631;EAW51223;NP_001036;P31645 Hs.134662;Hs.29792 1650550;1683795;1743139;1793332;1793668;2114102;2116801;2173210;5016851 A004R12;GDB:271277;PMC209526P1;PMC24806P1;RH70057;RH70982;RH80031;SHGC-11022;SLC6A4 5-HTT;5-HTTLPR;5HTT;HTT;OCD1;SERT;SERT1;hSERT 5-hydroxytryptamine (serotonin) transporter;5-hydroxytryptamine transporter;5HT transporter;Na+/Cl- dependent serotonin transporter;OTTHUMP00000163632;OTTHUMP00000163633;serotonin transporter 1;sodium-dependent serotonin transporter;solute carrier family 6 (neurotransmitter transporter, serotonin), member 4;solute carrier family 6 member 4;solute carrier family 6, member 4 APPROVED protein-coding ENSG00000108576 11050 01640 164230;182138;607834 REVIEWED 1342978 SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] X X q28 152606586 152615234 + 152953752 152962048 + 1600037;1580863;6480464;7240710 11898126 7953292;8661155;19188083;18515020;18461508;18443316;18350323;17603797;17101918;16738945;16086185;16049011;16036218;15489334;15338463;15154114;12477932;12219031;12210795;11326334;11063724;8661037;7945388;7774949;7622069;19319661;20528887;19570237;19879361;20602486;10893433;20301745;21190923;22281021;20846889;21267006;23000965;21906983;21987572;21556832;21140503 6535 H7C0F5;H7C1I2;H7C222;H7C249;P48029;Q59EV7 AB209704;ABBA01045367;AK295495;AK309060;AMYH01023296;AMYH01023297;AMYH01023298;AMYH01023299;BC012355;BC081558;BE207407;CA424985;CH471172;CX788315;EU280316;L31409;NG_012016;NM_001142805;NM_001142806;NM_005629;S74039;U17986;U36341;U52111;Z66539 AAA79507;AAA86990;AAB32284;AAC41688;AAH12355;AAH81558;ABM83232;ABM86431;ABZ82022;BAD92941;BAG58415;CAA91442;EAW72827;EAW72830;EAW72832;NP_001136277;NP_001136278;NP_005620;P48029 Hs.540696 1846913;5022110;5117322;5125062 D16S3203;GDB:511269;RH18202;RH71204 CCDS1;CRT;CRTR;CT1;MGC87396 OTTHUMP00000025945;OTTHUMP00000025946;creatine transporter 1;creatine transporter SLC6A8;sodium- and chloride-dependent creatine transporter 1;solute carrier family 6 (neurotransmitter transporter, creatine), member 8;solute carrier family 6 member 8 APPROVED protein-coding ENSG00000130821 11055 02073 300036;300352 REVIEWED 734004 SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008] 5 5 5 q32 145650900 145672027 + 149549713 149570828 + 149569520 149590635 + 1580863;6480464 7651355;15489334;14702039;12477932;8889548;7797577;19874574;20379614;20424473;20431603 6534 E5RJL1;Q99884 ABBA01026283;ABBA01026284;AC005895;AK096607;AK308895;AK312309;AMYH01015706;BC069631;BC093785;BC113425;BM682856;CH471062;NM_014228;S80071 AAB47007;AAH69631;AAH93785;AAI13426;ADR83094;BAG35234;EAW61743;EAW61744;NP_055043;Q99884 Hs.241597 1331607;1337120;1798202 D5S2013;D5S2015;SLC6A7_2321 PROT OTTHUMP00000160521;OTTHUMP00000226021;brain-specific L-proline transporter;sodium-dependent proline transporter;solute carrier family 6 member 7 APPROVED protein-coding ENSG00000011083 11054 09371 606205 VALIDATED 731925 SLC7A10 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008] 19 19 19 q13.1 30393162 30410341 - 38391411 38408548 - 33699570 33716756 - 1580863;6480464 10863037;10734121;15489334;15458438;12477932;11509015;11441184;15901826;18195088;22589738 56301 K7EK24;K7EK51;K7ENB6;Q9NS82 AB037670;ABBA01039621;AC008738;AF340165;AJ277731;AK000846;AK307527;AK316594;AMYH01009702;BC022457;BC035627;NM_019849 AAH35627;AAK93960;ADZ15434;BAA91397;BAB03213;BAG38181;CAC81900;NP_062823;Q9NS82 Hs.58679 1848320;2145241 D19S392;SHGC-52396 FLJ20839;HASC-1;asc-1 asc-type amino acid transporter 1;solute carrier family 7 member 10;solute carrier family 7, (cationic amino acid transporter, y+ system) member 10;solute carrier family 7, (neutral amino acid transporter, y+ system) member 10 APPROVED protein-coding ENSG00000130876 11058 12137 607959 VALIDATED 3476304 SLC7A15P solute carrier family 7, member 15, pseudogene 2 2 p24.1 20448877 20459078 + 20586147 20596346 + 15757906;18566733;20210993 100289450 ABBA01018474;AC007041;AMYH01010152;AMYH01010153;NG_012112 2119082 WI-8172 ARPAT APPROVED pseudo 32724 INFERRED 6484057 SLC7A11-AS1 SLC7A11 antisense RNA 1 4 q28.3 139010168 139099331 + 12477932 641364 ABBA01044913;ABBA01044914;ABBA01044915;AC105310;AC110804;AMYH01014558;AMYH01014559;AMYH01014560;BC040999;DB443521;NR_038380 Hs.570846 1652424;1674394;1857679;2162733;2164832;2171380 D4S1139;D4S1385;D4S3103;D4S857;RH36112;SHGC-51032 APPROVED miscrna ENSG00000250033 44064 VALIDATED 736349 SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 13 13 q12.3 28981551 29067721 - 30083551 30169825 - 1580863;6480464 12787129;1348489;1718082;19067360;18574322;18172665;17494634;17325243;16344560;15631944;15491978;15489334;15342556;15086470;15064952;15057823;14702039;12477932;12388095;12202949;11891586;11665818;10485994;18195088;21832049;22705145;21212261;21308737;16751776;23009292;21302286;21139048;21890473;21906983;21987572;21923750;21722652;19322201;22870827;23000965;22053931;22505724 6541 P30825;Q5JR49 AA527433;ABBA01035712;ABBA01035713;AF078107;AI362952;AK022999;AK124591;AK312818;AL050021;AL596114;AMYH01005000;BC012895;BC033200;BC063303;BC069358;BC115407;BG248687;BM458630;BP356532;CH471075;DA337847;DA394628;NM_003045;X57303;X59155 AAC27721;AAH63303;AAH69358;AAI15408;BAG35675;CAA40560;CAA41869;EAX08443;EAX08444;NP_003036;P30825 Hs.14846 1667697;1705700;1738377;1738391;1755731;1781726;2107613;2125229;2156028 D13S652E;D13S661E;G29227;RH71285;SHGC-142580;SHGC-155278;SHGC-83431;SLC7A1_7877;STS-AA007155 ATRC1;CAT-1;ERR;HCAT1;REC1L CAT1;OTTHUMP00000018189;amino acid transporter, cationic 1;ecotropic retroviral leukemia receptor homolog;ecotropic retroviral receptor;ecotropic retrovirus receptor homolog;high affinity cationic amino acid transporter 1;solute carrier family 7 member 1;solute carrier family 7, member 1;system Y+ basic amino acid transporter protein-coding ENSG00000139514 11057 00091 104615 VALIDATED 1323193 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 8 8 8 q21.3 83421171 83437487 - 87295404 87311720 - 87226288 87242604 - 1580863;6480464 14702039;12477932;11943479;11907033;20379614 157724 Q8TCU3 ABBA01037358;AC084128;AJ417661;AK055815;AMYH01018857;BC029436;BC125165;BC125166;CH471060;NM_138817 AAH29436;AAI25166;AAI25167;BAB71021;CAD10393;EAW91633;NP_620172;Q8TCU3 Hs.149095 1786820;2218016 SHGC-172426;SLC7A13_3723 AGT-1;AGT1;MGC150476;MGC150477;XAT2 OTTHUMP00000224513;OTTHUMP00000224514;X-amino acid transporter 2;amino acid transporter XAT2;sodium-independent aspartate/glutamate transporter 1;solute carrier family 7 member 13;solute carrier family 7, (cationic amino acid transporter, y+ system) member 13 APPROVED protein-coding ENSG00000164893 23092 15397 VALIDATED 1605648 SLC7A14 solute carrier family 7, member 14 3 3 3 q26.2 168576516 168703058 - 171667255 171786552 - 170177342 170303863 - 6480464 16344560;14702039;12477932;10997877;20379614;19389623;22787143 57709 Q8TBB6 AB046833;ABBA01058676;ABBA01058677;AC008041;AK094547;AK122655;AMYH01013644;BC022968;CH471052;DA475001;N64525;NM_020949 AAH22968;BAB13439;BAG53645;EAW78510;NP_066000;Q8TBB6 Hs.596660 1337673;1339823;1659699;1723693;1751865;1756137;1760597;5015961;5022322;5037552;7184464 D11S2560;D15S1477;D3S1564;D3S3723;D8S2279;RH123089;RH78995;SHGC-105847;SHGC-142944;SHGC-144148 FLJ37228;KIAA1613 OTTHUMP00000213700;probable cationic amino acid transporter;solute carrier family 7 (cationic amino acid transporter, y+ system), member 14;solute carrier family 7 (orphan transporter), member 14;solute carrier family 7 member 14 APPROVED protein-coding 29326 17222 VALIDATED 1319531 SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011] 4 4 q28-q32 139304698 139382953 - 139085248 139163503 - 1580863;6480464 11133847;19207949;19017641;19015640;18978678;18648370;18469825;18287333;18054200;17081983;16574866;15489334;15326101;15151999;14722095;12763038;12477932;12235164;11417227;11406111;11302733;11213471;10206947;20634891;15901826;17575980;18195088;20007406;20053169;20733204;21510944;21555518;21639880;21369940;21689549;21139048;21890473;21906983;21987572;21963094;23000965;23096413;20849923 23657 H0Y9F9;Q9UPY5 AB026891;AB040875;AB042201;ABBA01044913;ABBA01044914;ABBA01044915;AC093903;AC110804;AC116610;AF200708;AF252872;AJ277882;AK290359;AK314855;AMYH01014558;AMYH01014559;AMYH01014560;BC012087;BC041925;CD639041;CH471056;NM_014331 AAG35592;AAH12087;AAK49111;AAY41053;ADZ15927;BAA82628;BAA94999;BAB40574;BAF83048;BAG37372;CAC81905;EAX05135;NP_055146;Q9UPY5 Hs.390594 1724243;1848476;1857679;2162733;2166779;5015961;5022200;5024761;5037552 D15S1477;D4S265;D4S3103;D8S2279;L18426;RH121262;RH36112;RH36905;SHGC-51593 CCBR1;xCT OTTHUMP00000164578;amino acid transport system xc-;calcium channel blocker resistance protein CCBR1;cystine/glutamate transporter;solute carrier family 7 member 11;solute carrier family 7, (cationic amino acid transporter, y+ system) member 11 APPROVED protein-coding ENSG00000151012 11059 09720 607933 VALIDATED 1314214 SLC7A4 solute carrier family 7, member 4 22 22 q11.21 19713007 19716847 - 21383007 21386847 - 1580863;6480464 9598310;18460403;17051526;15489334;15461802;12477932;12049641;11665818;9754584;10700465;20584552;20685009;20452607 6545 C9JM63;O43246 ABBA01015432;AC002472;AJ000730;AJ009516;AMYH01012540;BC008814;BC062565;BC107160;BC107161;CH471176;CR456580;NM_004173 AAH08814;AAH62565;AAI07161;AAI07162;ABM83599;ABM86826;CAA04263;CAA08723;CAG30466;CAK54608;CAK54907;EAX02909;NP_004164;O43246 Hs.197116 2125108;2218608 D22S1239;SLC7A4__3865 CAT-4;CAT4;HCAT3;MGC129976;MGC129977;VH Ig heavy chain variable region;OTTHUMP00000198675;OTTHUMP00000198676;VH 3 family;cationic amino acid transporter 4;solute carrier family 7 (cationic amino acid transporter, y+ system), member 4;solute carrier family 7 member 4 APPROVED protein-coding ENSG00000099960 11062 04780 603752 VALIDATED 1603607 SLC7A5P1 solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1 This locus represents a transcribed pseudogene of the L-type amino acid transporter 1. [provided by RefSeq, Jul 2008] 16 16 16 p11.2 73170970 73171584 + 29531925 29532539 - 29624424 29625038 - 6480464 15146197;14702039;12477932;12009310;10493829 81893 Q8MH63 AC009086;AMYH01007494;BI522879;BM923058;CN275837;NR_002593 Hs.677169 DC49;LAT1-3TM;MLAS;hLAT1-3TM LAT1-3TM protein 1 APPROVED pseudo ENSG00000260727 29458 13964 VALIDATED 733970 SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010] X X X q13.1 70499018 70504564 - 70062154 70067684 - 70145429 70150975 - 6480464 15489334;18029348;16332251;16303743;15737334;14702039;12477932;11591158;18195088;22870827;22318606 84889 Q8WY07 ABBA01067634;AF320612;AK027447;AK074865;AK075014;AL627071;AMYH01022533;BC033816;CH471132;CQ783812;NG_021370;NM_001048164;NM_032803 AAH33816;AAL37184;ABM81811;ABM84965;BAB55118;BAC11253;BAC11353;CAF86874;EAX05329;EAX05330;NP_001041629;NP_116192;Q8WY07 Hs.175220 1699186;1787326;2110749;2118675 RH103173;RH67945;SHGC-154064;SLC7A3_8116 ATRC3;CAT-3;CAT3;FLJ14541;MGC20687 OTTHUMP00000023478;OTTHUMP00000023479;cationic amino acid transporter 3;solute carrier family 7, member 3 APPROVED protein-coding ENSG00000165349 11061 02343 300443 REVIEWED 68562 SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 8 8 p22 17440665 17472352 + 17354597 17428077 + 1580863;6480464 12787129;8954799;18029348;18172665;16344560;15489334;15064952;12477932;11665818;9174363;20430034;10756096;18195088;20424473;9040790;20600019;21963094;22870827;20972266;21139048;21906983;21987572;22787143;22053931 6542 P52569 AA724796;AB020863;ABBA01021583;ABBA01021584;AI275549;AI458117;AK314287;AL512749;AL832016;AMYH01018545;AMYH01018546;AP006248;AU077312;BC069648;BC104905;BC113661;BC143583;CB216457;CH471080;D29990;D78212;DB237902;NG_030355;NM_001008539;NM_001164771;NM_003046;U76368;U76369 AAB62810;AAB62811;AAH69648;AAI04906;AAI13662;AAI43584;BAA06271;CAD89909;EAW63812;EAW63813;EAW63814;EAW63815;NP_001008539;NP_001158243;NP_003037;P52569 Hs.448520 1649721;1651511;1681758;1691288;1699362;1720207;1788420;1794214;1848466;2119419 G31147;PMC310830P24;RH103268;RH124017;RH41931;RH79723;RH80694;SHGC-36559;STS-AA007415;fb93h06.x1 ATRC2;CAT-2;CAT2;HCAT2 solute carrier family 7, member 3;OTTHUMP00000216432;OTTHUMP00000216433;OTTHUMP00000224768;amino acid transporter, cationic 2;cationic amino acid transporter, y+ system;low affinity cationic amino acid transporter 2;low-affinity cationic amino acid transporter-2;solute carrier family 7 member 2 APPROVED protein-coding ENSG00000003989 11060 03524 601872 REVIEWED 1601796 SLC7A5P2 solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2 16 16 16 p12.2 73170970 73173529 + 21436715 21439266 - 21529214 21531765 - 6480464 12477932;12009310;21906983 387254 Q9GIP4 AC005632;AMYH01007355;BC071656;BI758996;BM904244;NR_002594 Q9GIP4 Hs.448808;Hs.664952 5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;L18426 IMAA;MMAA APPROVED pseudo 24951 13738 PROVISIONAL 1319397 SLC7A6 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 16 16 16 q22.1 52806916 52844230 + 66855924 66893223 + 68298419 68335726 + 1580863;6480464 9829974;15342556;12477932;9878049;9039502;10903140;15901826;18195088;19443642;16344560;22007000;21886157;23221699 9057 E7EPZ8;H3BNF5;H3BPK5;H3BPV6;H3BRZ8;H3BSB6;H3BSV7;H3BUA4;H3BUR2;J3QL60;Q92536 ABBA01025483;ABBA01025484;AC020978;AK310602;AK310866;AK311610;AMYH01007756;BC028216;BC113100;BP242589;CH471092;CR749291;CR749475;D87432;DB107640;NM_001076785;NM_003983;R48943 AAH28216;AAI13101;ABM81949;ABM85129;BAA13376;CAH18146;CAH18305;EAW83219;EAW83220;NP_001070253;NP_003974;Q92536 Hs.679580 1682141;1736540;1769371;2145578;2161515;2175211;2175213;2218018 A005R27;D16S2540E;G20443;RH64998;RH70445;SHGC-33727;SHGC-60827;SLC7A6_3922 DKFZp686K15246;KIAA0245;LAT-2;LAT3;y+LAT-2 Y+L amino acid transporter 2;amino acid permease;cationic amino acid transporter, y+ system;solute carrier family 7 (cationic amino acid transporter, y+ system), member 6;solute carrier family 7 member 6;y(+)L-type amino acid transporter 2;y+LAT2 APPROVED protein-coding ENSG00000103064 11064 12031 605641 VALIDATED 1354186 SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 16 16 q24.3 86421130 86460601 - 87863629 87903100 - 1580863;6480464 1597461;9751058;19347882;19184136;19121087;19018776;18813831;18440724;18382329;18294274;18262359;18253116;18095110;17622555;17558306;16496379;16175382;16097034;15900591;15769744;15589117;15489334;15302935;15200428;15178563;12925876;12824232;12477932;12225859;12117417;12009310;11557028;11535130;11311135;11095508;10629848;10568788;10072483;10049700;9878049;9829974;7829099;8922468;7561057;9403839;20374249;21530999;21371427;15901826;18195088;19171406;19430419;19635099;19777189;20375792;19559497;20510678;20601542;20091333;21439283;19068093;20680301;21055621;22813728;22939629;21501294;16196087;21486766;21798283;22007000;18781797;21987572;22199264;22110199;20972266;21139048;21890473;21906983;22077314;19322201;21963094;23000965;23221699;23438482;22736142;22053931;22505724;23103253 8140 Q01650;Q8IV97 AB017908;AB018009;AB018542;AB023721;ABBA01006922;AC126696;AF077866;AF104032;AM182888;AMYH01007902;AMYH01007903;BC014177;BC039692;BC042600;BC114608;CH471114;M80244;NM_003486 AAA35780;AAC61479;AAD20464;AAH39692;AAH42600;ABM84264;ABM87765;BAA33851;BAA75746;BAA84648;BAB70708;CAJ58680;EAW95373;EAW95374;EAW95375;NP_003477;Q01650 Hs.513797 1336048;1645803;1648447;1726277;1731659;1762353;1766655;1783394;1796842;2173960 2084;D16S413;D16S469E;G62517;RH47455;RH69181;SHGC-146188;SHGC-149947;SHGC-154007;SLC7A5_851 4F2LC;CD98;D16S469E;E16;LAT1;MPE16;hLAT1 4F2 LC;4F2 light chain;CD98 light chain;L-type amino acid transporter 1;OTTHUMP00000175013;integral membrane protein E16;large neutral amino acids transporter 1;large neutral amino acids transporter small subunit 1;sodium-independent neutral amino acid transporter LAT1;solute carrier family 7 (cationic amino acid transporter, y+ system), member 5;solute carrier family 7 member 5;y+ system cationic amino acid transporter APPROVED protein-coding ENSG00000103257 11063 02552 600182 VALIDATED 731774 SLC8A2 solute carrier family 8 (sodium/calcium exchanger), member 2 19 19 19 q13.3 44737047 44781071 - 52623735 52666934 - 47931279 47975307 - 730182;1580863;2316975;2316979;2316980;6480464;7204698 8021246;18037393;16107787;15461673;17716241 21382638;16679322;15557343;10470851;19913121;20628086;20132488;21858195;23224884;23224887;23224890 6543 F5GYS4;F5H6L7;M0R1Z4;M0R211;Q9UPR5 AB029010;ABBA01041035;ABBA01041036;ABBA01041037;ABBA01041038;ABBA01041039;ABBA01041040;AC073548;AK293457;AK293836;AK293860;AK302552;AL512764;AMYH01009884;CH471126;DC401065;NM_015063 AAI67838;BAA83039;BAG56952;BAG57237;BAG57255;BAG63821;CAC21681;EAW57484;EAW57485;EAW57486;NP_055878;Q9UPR5 Hs.172884 1339316;1650671;1666014;2151491;2218022 D19S596;RH66264;SLC8A2_3864;WI-13762;WI-19404 NCX2 Na(+)/Ca(2+)-exchange protein 2;Na+/Ca2+-exchanging protein Nac2;sodium-calcium exchanger 2;sodium/calcium exchanger 2;solute carrier family 8 (sodium-calcium exchanger), member 2;solute carrier family 8 (sodium/calcium exchanger), member 2;solute carrier family 8 member 2 protein-coding ENSG00000118160 11069 15990 601901 VALIDATED 1602091 SLC7A6OS solute carrier family 7, member 6 opposite strand 16 16 16 q22.1 52843026 52853373 - 66892021 66902349 - 68334518 68344868 - 6480464 16344560;14702039;12477932;8125298;20510023;21906983 84138 I3L4S1;J3KSD3;Q96CW6 ABBA01025484;AC020978;AK023353;AK091674;AK225712;AMYH01007756;AY078070;BC013778;CH471092;DB145613;NM_032178 AAH13778;AAL79958;BAB14538;EAW83222;EAW83223;NP_115554;Q96CW6 Hs.729520 1682141;1736540;1769371;2145578;2161515;2175211;2175213;2218018 A005R27;D16S2540E;G20443;RH64998;RH70445;SHGC-33727;SHGC-60827;SLC7A6_3922 FLJ13291 ADAMS proteinase-related protein;OTTHUMP00000174865;probable RNA polymerase II nuclear localization protein SLC7A6OS;protein SLC7A6OS;solute carrier family 7 member 6 opposite strand transcript protein-coding 25807 07824 VALIDATED 6767272 SLC8A1-AS1 SLC8A1 antisense RNA 1 2 p22.1 40144774 40482349 + 12477932;22628157 100128590 ABBA01075039;AC007253;AC007254;AC007377;AMYH01010277;BC043380;NR_038441 Hs.656261 1339849;1656148;1681981;1716481;1716781;1730317;1739035;1739037;1854329;2114402;2129666;2167299;2175973;7186566 Cda11b02;D2S1886;D2S1887;D2S193E;D2S2238;D2S2658;D2S2749;G10124;RH121526;RH121685;RH91099;SHGC-61992;WI-16830 APPROVED miscrna ENSG00000227028 44102 VALIDATED 731021 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] 2 2 p22.1 40192790 40510948 - 40339286 40739575 - 727449;1580732;1580863;1642711;1598724;1580586;1642714;1642717;1642720;1642725;1642713;1642716;1642729;2316975;2316980;6480464;6771236;6907045;7204698 12377375;15785003;17192285;16343576;15824464;10944172;17662498;17536604;17446477;15615841;17822695;17267548;18037393;15461673;22036625;17716241 14702039;1374913;19095005;18996841;18660489;18635667;17912271;17846126;17541957;16921169;16679322;16399865;16314582;16292983;15703175;15557343;15033764;14981087;14736881;14593108;12502539;12477932;12031969;11916852;11821059;11350050;11241183;10536662;9847074;9516469;8921376;8790037;8485996;1647256;1559714;1476165;15475962;19830548;19541636;20018762;20109173;20379614;20424473;20173311;22456474;22628157;21126331;22842068;21382638;23192947;21321244;21613675;21790537;22270364;21873429;21858195;21930298;21833492;22726844;17178715;19481548;23069678;23251661;23224869;23224872;23224875;23224883;23224887;23224890;23224891;23224892;22479505 6546 E7EV41;E9PB98;E9PCL8;F5H5B3;Q4QQH3;Q9UD55 AB209075;ABBA01075039;ABBA01075040;ABBA01075041;AC007254;AC007281;AC007377;AC007877;AC093586;AC106048;AF108388;AF108389;AF115505;AF128524;AK095013;AK125406;AK291696;AMYH01010277;BC098285;BC098308;BC098345;BX537482;BX648299;CH471053;M91368;M96368;NM_001112800;NM_001112801;NM_001112802;NM_001252624;NM_021097;X91213;X91221;X91815;Y12878;Y12885;Y13032;Y13033 AAA35702;AAD17213;AAD26362;AAF08987;AAF08988;AAF19235;AAF19237;AAH98285;AAH98308;AAI56360;AAI72488;AAX81985;BAD92312;BAF84385;CAA62923;CAA73378;CAA73386;CAA73477;CAA73478;CAD97765;EAX00331;EAX00332;EAX00333;EAX00334;EAX00335;EAX00336;NP_001106271;NP_001106272;NP_001106273;NP_001239553;NP_066920;P32418 Hs.31961;Hs.468274;Hs.744988 1338062;1647123;1656148;1707030;1715519;1724595;1753957;1759753;1784264;1854329;2114064;2129666;2148833;2167299;2175973;2185022;2218610;5109281 AFMB335XC1;Cda11b02;D1S1425;D2S2328;D2S2658;D2S2749;RH121294;RH121523;RH18469;SHGC-151269;SHGC-172311;SHGC-61992;SHGC-81024;SHGC-89339;SLC8A1;SLC8A1__3866;STS-Z40873;WI-16830 DKFZp779F0871;FLJ37694;FLJ43417;MGC119581;NCX1 Na(+)/Ca(2+)-exchange protein 1;Na+/Ca++ exchanger;Na+/Ca2+ exchanger;OTTHUMP00000128378;OTTHUMP00000201546;OTTHUMP00000201569;OTTHUMP00000201570;OTTHUMP00000201587;OTTHUMP00000201589;sodium/calcium exchanger 1 APPROVED protein-coding ENSG00000183023 11068 01659 182305 VALIDATED 734403 SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011] 19 19 q13.1 38013262 38052512 - 33321417 33360683 - 737767;1580863;6480464;7240710 10471498 10799513;19322909;18778962;18752446;17710781;17701443;16838140;16801163;16609684;16138908;15818803;15818799;15635077;15499206;15489334;15342556;14991253;14531788;12820697;12779097;12477932;12371955;12239244;12234283;12167606;11318953;11157794;10588648;9042922;9042921;8889548;8125298;21145461;15901826;18195088;19782624;20383145;20383146;20424473;21572414;21255007;21988832;21912425 11136 K7EIF5;K7EKD0;P82251 AB033548;ABBA01039603;ABBA01039604;AC008805;AF141289;AF421181;AJ249199;AK026446;AK223147;AK313708;AL365340;AL365341;AMYH01009698;AY170373;BC017962;BC029802;BP276659;CK300669;NG_008258;NM_001126335;NM_001243036;NM_014270 AAD55898;AAH17962;AAN40878;ABM82932;ABM86121;BAB16840;BAD96867;BAG36453;CAB54003;NP_001119807;NP_001229965;NP_055085;P82251 Hs.743345 BAT1;CSNU3;FLJ94301 B(0,+)-type amino acid transporter 1;b(0,+)AT;bo,+ amino acid transporter;glycoprotein-associated amino acid transporter b0,+AT1;solute carrier family 7 (cationic amino acid transporter, y+ system), member 9;solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9;solute carrier family 7 member 9 APPROVED protein-coding ENSG00000021488 11067 04997 220100;604144 REVIEWED 733448 SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] 14 14 q11.2 22312274 22354852 - 23242431 23289020 - 1624296;1580863;6480464;7240710 10080182 17764084;15756301;9829974;18716612;17666782;17530437;17196863;16344560;15776427;19664597;15489334;12589791;12477932;12402335;10737982;10655553;10631139;10080183;9878049;9199570;15901826;18195088;20301535;21586674;20379614;22325938 9056 D6RFE5;G3V273;G3V2H8;G3V2K0;G3V2L0;G3V362;G3V4U1;G3V4Z6;G3V5A1;G3V5W2;H0YJ95;Q9UM01 AB011263;AB020532;AB031537;AB209591;ABBA01061283;ABBA01061284;ABBA01061285;AF092032;AJ130718;AK025377;AK301219;AK309128;AK314351;AL135998;AL365450;AL365451;AL365452;AMYH01005599;BC003062;BC010107;BX161519;BX248291;CH471078;DA044956;DA638578;DA950997;DA991442;DB170842;NG_012851;NM_001126105;NM_001126106;NR_040448;Y18474 AAC83706;AAH03062;AAH10107;ABM82761;ABM85947;BAA87623;BAA95120;BAB11849;BAD92828;BAG36987;BAG62792;CAA10198;CAB40136;CAD61952;CAD62619;EAW66245;EAW66246;EAW66247;EAW66248;NP_001119577;NP_001119578;Q9UM01 Hs.513147;Hs.732349 1669705;2124509;2125894;2126869;2136517;2160008;2218020 G35496;G35515;G35664;G35783;G35854;G36098;SLC7A7_3921 LAT3;LPI;MOP-2;Y+LAT1;y+LAT-1 OTTHUMP00000027913;OTTHUMP00000164491;OTTHUMP00000164492;OTTHUMP00000164493;OTTHUMP00000164494;OTTHUMP00000245928;OTTHUMP00000245955;Y+L amino acid transporter 1;monocyte amino acid permease 2;solute carrier family 7 (cationic amino acid transporter, y+ system), member 7;solute carrier family 7 member 7;y(+)L-type amino acid transporter 1 APPROVED protein-coding ENSG00000155465 11065 04667 222700;603593 REVIEWED 1345085 SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 14 14 q11.2 22664344 22722689 - 23594504 23652869 - 1580863;6480464 10574970;10391915;17558306;15769744;15489334;14702039;12716892;12477932;11311135;10610726;10080183;8125298;19913121;20628086;12117417;15901826;15918515;18195088;19851296;20198315;20379614;21486766;21906983 23428 E9PIC3;E9PLV9;E9PQT4;E9PS92;H0Y2X7;Q53EM9;Q9UKQ7 AB037669;ABBA01061308;ABBA01061309;ABBA01061310;ABBA01061311;AF087908;AF087911;AF135828;AF135829;AF135830;AF171669;AK094550;AK223610;AK296702;AK300384;AK307609;AK313465;AL117258;AL365342;AL365343;AL365344;AL365345;AL365346;AL365347;AL365414;AMYH01005602;BC036825;BC052250;BX248288;CH471078;DC348596;NM_001267036;NM_001267037;NM_012244;NM_182728;NR_049767;Y18483 AAF05695;AAF05696;AAF05697;AAF20381;AAH36825;AAH52250;AAP97206;AAP97208;BAB21519;BAD97330;BAG36251;BAG52886;BAG59296;BAG62118;CAB40137;CAD62616;EAW66181;EAW66182;NP_001253965;NP_001253966;NP_036376;NP_877392;Q9UHI5 Hs.596643 1668585;1690404;1760553;2107615;2117503;2141401;2172517 D14S1252;D14S936;RH68931;RH69320;RH99158;SHGC-143965;SLC7A8_7269 LAT2;LPI-PC1 L-type amino acid transporter 2;OTTHUMP00000164556;OTTHUMP00000164557;OTTHUMP00000228619;hLAT2;integral membrane protein E16H;large neutral amino acids transporter small subunit 2;solute carrier family 7 (amino acid transporter, L-type), member 8;solute carrier family 7 (cationic amino acid transporter, y+ system), member 8;solute carrier family 7 member 8 APPROVED protein-coding ENSG00000092068 11066 11971 604235 VALIDATED 1351479 SLC9A3P1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 1 10 10 q11.23 51580557 51582353 + 51910338 51912326 + 8833252;8199403 6551 AL450382;NG_006095 NHE3P;SLC9A3P solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene APPROVED pseudo 11074 INFERRED 1351319 SLC9A3P2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 2 22 22 22 q11.21 4498069 4499962 + 19337021 19339114 + 21007121 21009014 + 128997 ABBA01015450;AC007050;AMYH01012536;NG_005203 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene 2 APPROVED pseudo 19325 INFERRED 1625826 SLC9A3P3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 3 10 10 10 q11.23 45733644 45735419 + 51454901 51457129 - 51785152 51786927 - 728990 ABBA01003656;AL442003;AMYH01002707;NG_006098 APPROVED pseudo 33492 INFERRED 1625810 SLC9A3P4 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 4 10 10 q11.22 47485766 47487329 + 47965760 47967028 + 389963 ABBA01052473;AL954360;AMYH01002450;NG_006096 APPROVED pseudo 33493 INFERRED 732656 SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Three mammalian isoforms in family 8 have been identified. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Jul 2008] 14 14 q24.1 69580687 69725540 - 70510934 70655787 - 730187;1580863;2316975;2316979;2316980;2316976;6480464;7204698 8798769;18037393;16107787;15461673;16914199;17716241 16679322;16344560;16306395;15777725;15557343;15247490;14722618;14702039;12558991;12502570;12477932;12406570;10390518;9195292;8921376;20379614;21602797;21382638;21858195;21790537;21959935;22969067;23382691;23224883;23224884;23224887;23224890;23224891 6547 B3KU59;F2Z391;P57103 ABBA01030819;ABBA01030820;ABBA01030821;ABBA01030822;ABBA01030823;ABBA01030824;AF508982;AF510501;AF510502;AF510503;AJ304852;AJ304853;AJ508602;AJ745101;AJ745102;AK096553;AK122728;AL135747;AL160191;AMYH01005826;BC023215;BC036783;BC114217;BC142969;BC150183;BC150193;BI551720;BI906774;BX248763;CH471061;DA351808;NM_001130417;NM_033262;NM_058240;NM_182932;NM_182936;NM_183002;X93017 AAI42970;AAI50184;AAI50194;AAI60014;AAM90955;AAN60790;AAN60791;AAN60792;BAG53321;BAG53692;CAC40984;CAC40985;CAD48420;CAD66570;CAG33739;CAG33740;EAW81018;EAW81019;EAW81020;EAW81021;EAW81022;EAW81023;EAW81024;EAW81025;EAW81026;NP_001123889;NP_150287;NP_489479;NP_891977;NP_891981;NP_892114;P57103 Hs.337696 1335233;1337718;1653227;1721129;1722607;1724547;1757609;1761393;1761425;1761499;1761531;1761547;1770366;1789186;1951158;2128937;2136743;2137812;2159614;2218024;5491862;7185267 D14S1116;D14S258;D14S603;D14S681E;D14S776;G59549;G60387;G65592;REN46433;RH122533;RH44806;RH78238;SHGC-145103;SHGC-145406;SHGC-145433;SHGC-145504;SHGC-145531;SHGC-145542;SLC8A3;SLC8A3_3867;WI-14913 NCX3 Na(+)/Ca(2+)-exchange protein 3;Na+/Ca2+ exchanger 3;OTTHUMP00000179116;OTTHUMP00000233725;OTTHUMP00000233727;OTTHUMP00000233728;OTTHUMP00000233729;OTTHUMP00000233730;OTTHUMP00000233731;sodium/calcium exchanger 3;sodium/calcium exchanger SLC8A3;solute carrier family 8 (sodium-calcium exchanger), member 3;solute carrier family 8 (sodium/calcium exchanger), member 3 APPROVED protein-coding ENSG00000100678 11070 09723 607991 REVIEWED 1606087 SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 2 2 2 q12.1 97290912 97351604 + 102456194 102516863 + 103089762 103150431 + 6480464 18311140;17943310;16344560;12576672;8199403;21738478;22049213;17370265 389015 Q6AI14 ABBA01073897;ABBA01073898;ABBA01073899;AC007278;AL833048;AMYH01010821;AMYH01010822;CH471127;CR627411;DA442134;NM_001011552 AAI60158;CAH10500;CAH10600;EAX01790;NP_001011552;Q6AI14 Hs.447686 1336851;7185342 D2S373 DKFZp313B031;NHE4 NHE-4;Na(+)/H(+) exchanger 4;OTTHUMP00000203108;sodium/hydrogen exchanger 4;solute carrier family 9 (sodium/hydrogen exchanger), isoform 4;solute carrier family 9 (sodium/hydrogen exchanger), member 4;solute carrier family 9 member 4 APPROVED protein-coding ENSG00000180251 11077 15973 600531 VALIDATED 730959 SLC9A2 solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 2 2 q11.2 102602598 102694241 + 103236166 103327809 + 1580863;6480464 17943310;8843774;8595899;7683411;19056765;17881426;17561809;16982955;15815621;15664417;12477932;11408268;11350981;11254504;10579058;10444453;10187839;9847074;8901634;1318024;12576672;19389806;19479940;20379614;22052014;21890473 6549 O00618;Q9UBY0 AA843986;ABBA01073895;AC007239;AF073299;AK129936;AMYH01010825;AMYH01010826;BC035787;BC136377;BC136378;CH471127;NM_003048;S83549 AAB50820;AAD41635;AAF19248;AAI36378;AAI36379;EAX01788;EAX01789;NP_003039;Q9UBY0 Hs.250083 NHE2 NHE-2;Na(+)/H(+) exchanger 2;OTTHUMP00000161338;sodium/hydrogen exchanger 2;solute carrier family 9 (sodium/hydrogen exchanger), isoform 2;solute carrier family 9 (sodium/hydrogen exchanger), member 2;solute carrier family 9 member 2 APPROVED protein-coding ENSG00000115616 11072 02756 600530 VALIDATED 730978 SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 5 5 p15.3 526425 577447 - 473334 524549 - 727424;1580740;1625672;1625673;1580863;727447;6480464;6484113;6907045 12218313;15201541;16757903;16244498;12372791 12542207;19088451;16421216;15911629;15754324;15531580;15489334;15342556;15197272;15070904;14580213;14531806;12799307;12763917;12665801;12576672;19338654;19303862;19056765;18801914;18614797;18433466;18085326;17881426;17540780;17307723;17276988;16971495;16760259;16464174;12477932;12397398;12167607;11841999;11408268;10506918;10452823;10364184;9748260;8901634;8843774;8795445;8096830;7631746;1577762;19913121;20628086;20691413;16159897;16293618;19389806;19473983;19479940;19535329;19772970;19854014;19926819;20080968;20424473;20967843;23086913;22447429;21832242;23324582;22466613;23128233 6550 E9PF67;P48764 ABBA01034255;ABBA01034256;AC010442;AC106772;AMYH01014827;AMYH01014828;AMYH01014829;AMYH01014830;BC011555;BC101669;BC101671;BC143328;BP270851;CH471235;NM_004174;S83545;U28043 AAB48990;AAB50819;AAI01670;AAI01672;AAI43329;EAW51006;EAW51007;NP_004165;P48764 Hs.658120 1648459;1681143;2112202;2174615 D5S2774;RH91398;SHGC-36639;STS-Z39377 MGC126718;MGC126720;NHE3 NHE-3;Na(+)/H(+) exchanger 3;OTTHUMP00000115364;OTTHUMP00000221424;sodium/hydrogen exchanger 3;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3;solute carrier family 9 (sodium/hydrogen exchanger), member 3;solute carrier family 9 member 3 APPROVED protein-coding ENSG00000066230 11073 01660 182307 VALIDATED 1349643 SLC8B1 solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008] 12 12 12 q24.13 113363396 113399748 - 112220954 112257308 - 113736571 113772925 - 6480464;7204696 22850819 15489334;15060069;14702039;14625281;12477932;8889548;21890473;21906983;23149075;23506867;23538132 80024 F8VR99;F8VTU4;F8VW44;F8VWW9;F8W134;H0YI75;Q6J4K2 ABBA01019953;AC010178;AK025886;AK056179;AK094074;AK095092;AK124000;AK293216;AMYH01004760;AMYH01004761;AY601759;AY601760;BC020463;BC032397;BC033070;BC098360;BC098430;BM560555;BM980568;CA309108;CH471054;NM_024959 AAH98360;AAT35807;AAT35808;BAB15271;BAG52808;BAG56755;EAW98048;EAW98049;EAW98050;EAW98051;NP_079235;Q6J4K2 Hs.286194 1730419;5015861;5126487 D10S16;D12S1396E;WI-18647 FLJ22233;NCKX6;NCLX Na(+)/K(+)/Ca(2+)-exchange protein 6;OTTHUMP00000241554;OTTHUMP00000241555;OTTHUMP00000241556;sodium/calcium exchanger protein, mitochondrial;sodium/potassium/calcium exchanger 6;sodium/potassium/calcium exchanger 6, mitochondrial;solute carrier family 24 (sodium/potassium/calcium exchanger), member 6;solute carrier family 24 member 6 APPROVED protein-coding ENSG00000089060 26175 15354 609841 VALIDATED 5135553 SLC9A7P1 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1 12 12 12 q23.1 98511368 98514673 - 97372512 97402108 - 98847618 98850923 - 14702039 121456 ABBA01053290;AC013418;AK092631;AMYH01004688;CH471054;NR_033801 BAG52584;EAW97588 Hs.620643 1718955;1794144 PMC310794P37;RH123185 APPROVED pseudo ENSG00000227825 32679 VALIDATED 732088 SLC9A5 solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 16 16 q22.1 65840356 65863595 + 67282855 67306094 + 634199;1580863;1643221;6480464 9933642;10642288 9933641;19276089;16920332;15699339;14702039;12598940;12576672;12417987;12205089;7759094;12477932;21296876;21551074;19322201 6553 H3BNY2;J3KSB3;J3KSE2;J3QRV1;Q14940;Q9NSW9 AB209203;ABBA01025433;AC040160;AF111173;AK021876;AK091748;AL137689;AMYH01007745;BC142671;BC144131;BC150207;CH471092;DB475730;NM_004594;U08607 AAA87678;AAC98696;AAI42672;BAD92440;CAB70875;EAW83114;EAW83115;EAW83116;NP_004585;Q14940 Hs.439650 1341446;1668276;1699702;1731435;1744971;2107619;5019070;5037552 D16S318;D16S421;D8S2279;G44334;GDB:591113;RH103456;RH70396;SLC9A5_7878 NHE5 NHE-5;Na(+)/H(+) exchanger 5;sodium/hydrogen exchanger 5;solute carrier family 9 (sodium/hydrogen exchanger), isoform 5;solute carrier family 9 (sodium/hydrogen exchanger), member 5;solute carrier family 9 member 5 APPROVED protein-coding ENSG00000135740 11078 02723 600477 VALIDATED 733001 SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 16 16 p13.3 2016930 2028484 + 2076869 2089027 + 1580741;1580863;6480464;6484113;6907045;7207465 15311100;21777186 11893083;11751930;11285285;11118213;10893422;10748023;10455146;9831664;9671706;9314537;9096337;15642748;11997330;11457882;14531806;14604981;11786550;9748260;9054412;19091402;18029348;17229887;16615918;16166090;15728708;15665527;15616553;15489334;15302935;14623317;12954600;12499563;12477932;12444200;12387817;12369822;12080047;12075354;11948184;22587461;20562104;20663896;11099500;12421809;15523054;15553237;16203867;16456542;19293149;19555689;19615732;20618342;17242191;20430067;21187068;21191106;19448074;20632170;21913013;21980575;21134377;22343917;22939629;21139048;21906983;22371496;17110338;23284683;18729074 9351 H3BMF5;H3BN50;H3BQS0;H3BUQ9;Q15599 AB014460;AB016243;ABBA01030280;AC005600;AC093513;AF004900;AF035771;AMYH01007047;BC014513;BC069014;BC106001;BQ447156;BQ687174;BX377861;CB961565;CH471112;DB495688;NM_001130012;NM_001252073;NM_001252075;NM_001252076;NM_004785;U82108;Z50150 AAB53042;AAC34208;AAC52090;AAC63061;AAH14513;AAH69014;AAI06002;BAA32696;BAA33216;CAA90511;EAW85563;EAW85564;EAW85565;EAW85566;NP_001123484;NP_001239002;NP_001239004;NP_001239005;NP_004776;Q15599 Hs.440896 1666894;2161458 RH48490;STS-Z50150 E3KARP;MGC104639;NHE3RF2;NHERF-2;NHERF2;OCTS2;SIP-1;SIP1;TKA-1 NHE3 kinase A regulatory protein E3KARP;NHE3 regulatory factor 2;Na(+)/H(+) exchange regulatory cofactor NHE-RF2;SRY-interacting protein 1;sodium-hydrogen exchanger regulatory factor 2;sodium/hydrogen exchanger;sodium/hydrogen exchanger 3 kinase A regulatory protein;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2;solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2;solute carrier family 9 isoform A3 regulatory factor 2;tyrosine kinase activator protein 1 APPROVED protein-coding ENSG00000065054 11076 05946 606553 REVIEWED 736585 SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011] 1 1 p36.1-p35 27297894 27353990 - 27425300 27481621 - 1625560;1625563;727424;1580863;6480464;6771238;6771334;6771331;6771339;6771325;6771332;6771337;6771327;6771336;6771239;6484113;625494;6907045 17356886;15942020;12218313;22803959;19384202;20883671;18057998;20337040;18776042;22009485;19179646;22588937;12039959 1979310;2536298;8283968;19176522;18996841;18953413;18757828;18701649;18508767;18508719;18480176;18407588;18264982;18263712;18094149;18094063;18003619;17982256;17981808;17943310;17916606;17913870;17894388;17662110;17565280;17349711;17339567;17332506;17209041;17167226;17073455;17050540;16861220;16710414;16710297;16511206;16475831;16344560;16306134;16189514;16002403;15843433;15823043;15772858;15677483;15610042;15535843;15523538;15489334;15465015;15269707;15253667;15096511;15035633;14702039;14680478;12905871;12809501;12765964;12682826;12626508;12598940;12576672;12562776;12549930;12479094;12477932;12226101;12138085;12065894;11852051;11696366;11604491;11369779;11350981;11279064;11163215;10913675;10713111;9688597;8901634;8068684;2846238;2154036;1712287;21185840;21221801;22688515;20338684;20542029;22270364;19301149;19479940;19622752;19835836;19854014;19887620;19958503;20138826;20427472;20855896;20547664;20936779;20609358;20974853;19876777;21261728;21148407;21349616;21063092;21170089;20737315;21413028;22939629;22984264;21867601;21345796;21425832;21669197;21047280;21729545;21931166;21454803;22772156;20561412;22301060;21139048;21890473;21906983;22216126;22120673;22718548;22922957;22138972;23184727;23393197;23303189;23331996;23224899;22494070 6548 B1ALD5;B2RAH2;B4DTZ6;P19634 ABBA01034949;ABBA01034950;ABBA01034951;ABBA01034952;ABBA01034953;AF141350;AF141351;AF141352;AF141353;AF141354;AF141355;AF141356;AF141357;AF141358;AF141359;AF146430;AF146431;AF146432;AF146433;AF146434;AF146435;AF146436;AF146437;AF146438;AF146439;AK096921;AK124218;AK300432;AK314190;AL137860;AL590640;AMYH01000420;AMYH01000421;BC012121;BC030272;BC090942;BQ775239;BQ775318;CH471059;DA313453;DA853045;HI574184;M81768;M96066;M96067;NG_030006;NM_003047;NR_046474;S68616 AAB59460;AAC60606;AAF21350;AAF21351;AAF21352;AAF21353;AAF21354;AAF21355;AAF21356;AAF21357;AAF21358;AAF21359;AAF25592;AAF25593;AAF25594;AAF25595;AAF25596;AAF25597;AAF25598;AAF25599;AAF25600;AAF25601;AAH12121;ADZ15465;BAG36869;BAG62158;CBX47581;EAX07773;EAX07774;EAX07775;NP_003038;P19634 Hs.469116;Hs.91389 1649775;1661772;1662348;1688086;1740949;1744669;1771844;1778526;2116124;2120275;2161075;2172299;2183461;2218026 AL009835;D1S3323;DXS6991E;DXS6996E;GDB:176410;GDB:549196;RH18372;RH45589;SHGC-53719;SHGC-74483;SHGC-74507;SLC9A1_3868;STS-R72385;STS-S68616 APNH;FLJ39602;FLJ42224;NHE-1;NHE1 NHE-1;Na(+)/H(+) antiporter, amiloride-sensitive;Na(+)/H(+) exchanger 1;Na+/H+ antiporter, amiloride-sensitive;Na-Li countertransporter;OTTHUMP00000004468;sodium/hydrogen exchanger 1;solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive);solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive);solute carrier family 9 member 1;solute carrier family 9, member 1 APPROVED protein-coding ENSG00000090020 11071 00123 107310 REVIEWED 1352693 SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] X X q26.3 134895252 134957094 + 135067583 135129428 + 1580863;6480464;7240710 18057008;9507001;11940519;11641397;19471312;18342287;12477932;11707463;11279194;10528855;9039502;20130086;20364249;19619532;20395263;22541666;21413028;21171650;21812100;21881004;21963094;17370265;19322201 10479 Q86VS0 AB074255;ABBA01055849;ABBA01055850;ABBA01055851;ABBA01055852;ABBA01055853;ABBA01055854;AF030409;AK289775;AK296444;AK297218;AK300475;AK314562;AK316255;AL732579;AMYH01023046;AMYH01023047;BC035029;BC047375;BC049169;CH471150;D87743;DB483081;DC308430;NG_017160;NM_001042537;NM_001177651;NM_006359;R15803 AAC39643;AAH35029;AAH49169;BAA13449;BAB72002;BAF82464;BAG59095;BAG59701;BAG62192;BAH14626;EAW88481;EAW88482;NP_001036002;NP_001171122;NP_006350;Q92581 Hs.62185 1701854;1701902;1702280;1726457;1730265;1769434;1771991;2163325;2218028 DXS1009E;DXS1009E.1;DXS424;DXS548;DXS6845;G09809;G62608;SHGC-31813;SLC9A6_3766 KIAA0267;MRSA;NHE6 Na(+)/H(+) exchanger 6;OTTHUMP00000024089;OTTHUMP00000024090;OTTHUMP00000024091;sodium/hydrogen exchanger 6;solute carrier family 9 (sodium/hydrogen exchanger), isoform 6;solute carrier family 9 (sodium/hydrogen exchanger), member 6;solute carrier family 9 member 6 APPROVED protein-coding ENSG00000198689 11079 02208 300231;300243 REVIEWED 6483989 SLC9A9-AS1 SLC9A9 antisense RNA 1 3 q24 143061088 143065913 + 16344560 100885796 ABBA01059014;AC131210;AMYH01013552;DB338547;NR_048544 Hs.581618 APPROVED miscrna ENSG00000240012 40928 VALIDATED 2800409 SLC9B1P2 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 2 2 2 p11.1 91434659 91513828 - 92070932 92119740 - 389000 ABBA01048752;ABBA01048753;AC127391;AC128677;AMYH01010666;CH471366;NG_009550 EAW50835 1794260 PMC310890P6 NHEDC1P2 APPROVED pseudo 37493 INFERRED 3539548 SLC9B1P1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1 Y Y q11.21 11956066 12002304 - 13496066 13541371 - 12815422 100128190 A6NJY1;I3L094 ABBA01032191;ABBA01032192;ABBA01032193;ABBA01032194;ABBA01032195;ABBA01032196;AC134882;NG_023008 A6NJY1 NHEDC1P1 APPROVED pseudo 37492 INFERRED 5553005 SLC9B1P3 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 3 10 38933913 38982207 - 100421008 AL133173;AMYH01002273;NG_025429 APPROVED pseudo 43582 INFERRED 5553004 SLC9B1P5 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 5 16 32399452 32447686 + 100533705 AC138915;AMYH01007527;NG_028878 APPROVED pseudo 43584 INFERRED 5553023 SLC9B1P4 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 4 22 22 q11.1 15289498 15338634 - 16909498 16957618 - 644768 ABBA01001470;ABBA01001471;ABBA01001472;AMYH01012414;AP000545;AP000546;NG_022866 APPROVED pseudo 43583 INFERRED 1342625 SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009] 17 17 q25.1 70256373 70277089 + 72744751 72765499 + 1580863;6480464;6484113;7207465;7240710 21777186 16236806;9560162;11285285;12471024;9430655;19308292;19234136;19188335;19165527;19139211;19091402;19073137;19034380;18784102;18754678;18588753;18184109;17982258;17911601;17895247;17884816;17613530;17602283;17593079;17332506;17242191;17237149;17081983;17078868;16615918;16519819;16129695;15805108;15489334;15467753;15342556;15302935;15161943;15146197;15070904;14744877;14702039;14608357;14604981;14580213;14531806;14507927;12920119;12830000;12665801;12651858;12626493;12615054;12499563;12477932;12444018;12403779;12369822;12193606;12145337;12080081;12075354;12004055;11967229;11956211;11893083;11882663;11684085;11352585;11304524;11099500;11046132;10980202;10852925;10748165;10562288;10499588;10446210;9677412;9671706;9613608;9314537;9096337;7738182;12954600;12621035;22366766;22506049;22801783;22496422;22610101;22628548;22354994;20562104;20571032;20203292;20442317;20395446;20656684;20736378;20012548;20237154;20404332;20801883;11158634;11533036;15020681;15523054;15553237;16456542;18029348;19173579;19581308;19591839;19615732;19912366;20031577;20042604;20140636;20937695;12881487;21160026;20802536;21191106;21170265;22863883;17342744;21672215;21707710;21680517;21496870;21832055;21139048;21906983;22028271;21983488;22440733;21971156;21987572;21990315;21203899;21804599;21822312;22466651;22939629;22964850;19805454;21963094;21988832;22622406;11526121;22053931;22190034;22446018;22766563;23284683;22476347 9368 B3KY21;J3QRA3;J3QRP6;O14745 ABBA01028827;AC016888;AF015926;AF036241;AI203594;AK026581;AK094467;AK128474;AK312498;AMYH01008626;BC001443;BC003361;BC011777;BC049220;BC053350;BP347679;BX648303;CH471099;CN286501;CX761192;NG_013022;NM_004252 AAC04572;AAC52084;AAH01443;AAH03361;AAH11777;AAH49220;AAH53350;BAG35400;BAG52871;BAG54683;EAW89189;EAW89190;EAW89191;NP_004243;O14745 Hs.724482;Hs.744126 1683737;1686502;1846962;1846964;2107617;2140093;5015861;5020948;5022450;5024761;5037552;7185938 A002D35;D10S16;D10S275;D8S2279;G19962;G35510;HUM000S150;RH36905;RH92683;RH98250;SLC9A3R1_7238 EBP50;NHERF;NHERF-1;NHERF1;NPHLOP2 NHERF-1;Na(+)/H(+) exchange regulatory cofactor NHE-RF1;Na+/H+ exchange regulatory co-factor;ezrin-radixin-moesin binding phosphoprotein-50;ezrin-radixin-moesin-binding phosphoprotein 50;regulatory cofactor of Na(+)/H(+) exchanger;sodium-hydrogen exchanger regulatory factor 1;sodium/hydrogen exchanger regulatory factor 1;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1;solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1;solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1;solute carrier family 9 isoform A3 regulatory factor 1 APPROVED protein-coding ENSG00000109062 11075 05406 604990;612287 REVIEWED 1350922 SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] X X X p11.3 50658215 50810335 - 46351317 46503416 - 46458686 46618607 - 1580863;6480464 18654930;11279194;15840657;15772651;14702039;12477932;11944989;20364249;21171650;21906983;22076128 84679 Q96T83 ABBA01052231;ABBA01052232;ABBA01052233;ABBA01052234;ABBA01052235;ABBA01052236;ABBA01052237;ABBA01052238;ABBA01052239;ABBA01052240;ABBA01052241;AF298591;AI081096;AK056599;AL022165;AL050307;AL162583;AL512633;AMYH01022250;AMYH01022251;AMYH01022252;AMYH01022253;BC094742;CH471164;NG_012622;NM_001257291;NM_032591 AAI57024;AAK54508;BAG51760;EAW59270;EAW59271;EAW59272;EAW59273;NP_001244220;NP_115980;Q96T83 Hs.91389 1335441;1649775;1662348;1671081;1687664;1702368;1702698;1703102;1718955;1776317;1778526;2113224;2129571;2132977;2133441;2171912;2172299;5015619;5016596;5016781;5017227;5020946;5022450;5022463;5037552;7185242 A004O01;AL031091;D10S275;D11S3114;D3S1673;D8S2279;DXS1003;DXS1290;DXS6991E;DXS6996E;DXS7662;DXS9886E;G06244;G38154;GDB:631802;L17971;RH123185;RH18372;RH47308;SHGC-53719;SHGC-57294;SHGC-67307;WI-18364;sWXD3384;sWXD3386 NHE-7;NHE7;SLC9A6 NHE-7;Na(+)/H(+) exchanger 7;OTTHUMP00000023187;nonselective sodium potassium/proton exchanger;sodium/hydrogen exchanger 7;solute carrier family 9 (sodium/hydrogen exchanger), isoform 7;solute carrier family 9 (sodium/hydrogen exchanger), member 7;solute carrier family 9 member 7 APPROVED protein-coding 17123 02297 300368 REVIEWED 1605279 SLC9B1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 4 4 4 q24 101105822 101237997 - 104025643 104160325 - 103806205 103940896 - 6480464 16850186;12477932 150159 D6RA80;D6RFK4;D6RGI9;D6RHJ0;H0Y9Z0;Q4ZJI4 ABBA01063703;ABBA01063704;ABBA01063705;ABBA01063706;AC018797;AC083826;AC097485;AF213884;AF447585;AK313592;AMYH01014432;AMYH01014433;AMYH01014434;AY461581;BC022079;BC046636;BC110794;BC132712;BC136966;BC144443;CH471057;DB526003;DQ003059;NG_008662;NM_001100874;NM_139173;NR_047513;NR_047515 AAI10795;AAI32713;AAI36967;AAM22868;AAS91021;AAY21808;ADR83330;BAG36359;EAX06152;EAX06153;EAX06154;EAX06155;EAX06156;EAX06157;EAX06158;NP_001094344;NP_631912;Q4ZJI4 Hs.666728 1729744;1848399;5015881 D4S246;GDB:335751;WI-22115 MGC131641;NHA1;NHEDC1 CG10806-like;NHE domain-containing protein 1;Na(+)/H(+) exchanger-like domain-containing protein 1;Na+/H+ exchanger domain containing 1;Na+/H+ exchanger like domain containing;Na-H-exchanger protein;OTTHUMP00000219741;OTTHUMP00000219742;sodium/hydrogen exchanger 9B1;sodium/hydrogen exchanger-like domain-containing protein 1;solute carrier family 9 subfamily B member 1;solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 APPROVED protein-coding ENSG00000164037 24244 11240 611527 REVIEWED 1317829 SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009] 20 20 20 q13.13 45133843 45213359 + 47862657 47942179 + 48429250 48508779 + 6480464 19109523;18209477;17881426;17081983;15522866;14702039;12845533;12477932;12409279;12168954;11780052;10231032;20953189;20719963;20375273;21171650;21666503 23315 B4DIV9;B4DIX7;B7Z3B1;Q9Y2E8 AB023156;ABBA01052753;ABBA01052754;ABBA01052755;ABBA01052756;ABBA01052757;ABBA01052758;ABBA01052759;AK124491;AK131001;AK295665;AK295803;AK295822;AK300318;AK308328;AK310530;AL031685;AL049469;AL162615;AL833574;AMYH01011968;BC112213;BX424838;BX430866;CH471077;CQ834456;CR749638;NM_001260491;NM_015266;NR_048537;NR_048538;NR_048539;NR_048540 AAI12214;BAA76783;BAC85475;BAG58621;BAG58639;BAG62070;BAH12147;CAH05443;CAH18432;EAW75647;EAW75648;EAW75649;EAW75650;EAW75651;EAW75652;NP_001247420;NP_056081;Q9Y2E8 Hs.444202 1646625;1667571;1668019;1680673;1777963;2168647;2168649;2187601;2218612 A005P06;AL030965;G20391;RH70097;SLC9A8__3795;STS-F09734;WI-20567;Z94308;Z94546 DKFZp686C03237;FLJ42500;KIAA0939;MGC138418;NHE-8;NHE8 NHE-8;Na(+)/H(+) exchanger 8;OTTHUMP00000043368;sodium/hydrogen exchanger 8;solute carrier family 9 (sodium/hydrogen exchanger), isoform 8;solute carrier family 9 (sodium/hydrogen exchanger), member 8;solute carrier family 9 member 8 APPROVED protein-coding ENSG00000197818 20728 18062 612730 VALIDATED 1604997 SLC9B2 solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008] 4 4 4 q24 101243753 101295309 - 104166795 104217379 - 103946652 103998170 - 6480464 18508966;18000046;17988971;12477932;18600791;20053353;20332099;20713131;22948142;21906983 133308 B7Z676;D6R9P2;D6RGJ7;E9PE63;Q86UD5 AA233228;ABBA01063706;ABBA01063707;AC097485;AK172823;AK297010;AK298506;AK299888;AMYH01014434;BC009732;BC047447;BI914487;BI962996;CA447309;CH471057;NM_178833 AAH09732;AAH47447;BAD18790;BAH12474;BAH12802;BAH13162;EAX06159;EAX06160;EAX06161;NP_849155;Q86UD5 Hs.546482 1677060;1681129;1849995;1849997;2137950;2174550 G34408;RH91901;RH91916;SHGC-24733;SHGC-36602;SHGC-50517 FLJ23984;NHA2;NHE10;NHEDC2 NHE domain-containing protein 2;Na(+)/H(+) exchanger-like domain-containing protein 2;Na+/H+ exchanger domain containing 2;OTTHUMP00000161768;OTTHUMP00000161769;OTTHUMP00000219474;OTTHUMP00000219475;mitochondrial Na(+)/H(+) exchanger NHA2;mitochondrial sodium/hydrogen exchanger 9B2;mitochondrial sodium/hydrogen exchanger NHA2;sodium/hydrogen exchanger-like domain-containing protein 2;solute carrier family 9 subfamily B member 2;solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 APPROVED protein-coding ENSG00000164038 25143 14051 611789 VALIDATED 1602168 SLCO1B7 solute carrier organic anion transporter family, member 1B7 (non-functional) 12 12 12 p12.2 26323985 26398421 + 21059897 21134307 + 21168630 21243040 + 20837016 338821 F5H094;G3V0H7;H0YFQ8 ABBA01067966;AC011604;AC087309;AF401642;AMYH01004318;CH471094;NM_001009562 AAQ03085;EAW96417;EAW96418;EAW96419;G3V0H7;NP_001009562 Hs.744627 1796804;2171149;2182812 D12S1836;RH68705;SLC21A8_826 LST-3;LST-3TM12;LST3;SLC21A21 OTTHUMP00000239941;OTTHUMP00000239996;liver-specific organic anion transporter 3;liver-specific organic anion transporter 3TM12;organic anion transporter LST-3b;putative solute carrier organic anion transporter family member 1B7 APPROVED protein-coding ENSG00000205754 32934 17455 VALIDATED 1351436 SLC9C1 solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009] 3 3 3 q13.2 110258818 110421777 - 113342442 113495764 - 111859752 112013074 - 1580863;6480464 14634667;12783626;12477932;20379614;23000155 285335 C9J3M6;F8WCJ0;Q4G0N8 ABBA01061665;ABBA01061666;AC119734;AC128688;AK128084;AMYH01013389;BC044801;BC143774;BK001328;CH471052;HC007284;NM_183061 AAH44801;BAC87265;CBH19447;DAA01462;EAW79679;NP_898884;Q4G0N8 Hs.680112 1676686;1676814;1770012;1850338;2119098 AFM290yg5;D3S1215;NIB1965;RH65506;SHGC-87656 NHE;SLC9A10;sperm-NHE NHE-10;Na(+)/H(+) exchanger 10;OTTHUMP00000214496;OTTHUMP00000214497;sNHE;sodium/hydrogen exchanger 10;solute carrier family 10 member 10;solute carrier family 9 member C1;solute carrier family 9, isoform 10;solute carrier family 9, member 10;sperm-specific Na(+)/H(+) exchanger;sperm-specific sodium proton exchanger APPROVED protein-coding ENSG00000172139 31401 11257 612738 VALIDATED 1354032 SLC9C2 solute carrier family 9, member C2 (putative) 1 1 1 q25.1 146579016 146681647 - 171736234 171838803 - 173469604 173572233 - 16344560;12477932 284525 B3KXW8;F5H342;Q5TAH2 ABBA01027903;ABBA01027904;ABBA01027905;AK128104;AK302731;AL139142;AMYH01001502;AMYH01001503;BC042592;BX648119;CH471067;DB071569;NM_178527 AAH42592;BAG54630;BAG63949;EAW90946;EAW90947;EAW90948;NP_848622;Q5TAH2 Hs.494981 2113662 AB072793 MGC43026;RP3-436N22.2;SLC9A11 NHE-11;Na(+)/H(+) exchanger 11;OTTHUMP00000032688;sodium/hydrogen exchanger 11;solute carrier family 9 member C2;solute carrier family 9, isoform 11;solute carrier family 9, member 11 APPROVED protein-coding ENSG00000162753 28664 15398 VALIDATED 1344263 SLCO1B1 solute carrier organic anion transporter family, member 1B1 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009] 12 12 p 21175404 21283997 + 21284128 21392730 + 1580863;2316977;2316509;6480464;6907361;6907045 17353665;17253883;22170007 10358072;19414484;19397531;19390945;19387419;19374892;19349540;19343046;19293444;19244099;19243019;19238654;19238167;19238116;19144951;19129086;19122343;19005461;18854776;18823304;18794729;18781850;18650507;18641915;18558634;18551036;18518855;18499754;18443034;18408565;18399713;18321482;18314419;18221820;18192894;18187595;18185926;18180273;18159134;18154446;17996736;17989996;17973861;17932728;17923851;17906856;17885626;17883959;17766002;17641954;17635496;17622941;17568401;17496208;17473846;17460607;17439540;17415554;17412826;17108811;17047488;16917677;16906022;16847425;16796707;16784736;16758257;16722833;16678545;16678544;16568260;16542205;16534140;16515396;16513443;16198653;16198652;16004557;15961978;15952872;15864131;15864125;15548849;15535988;15519273;15319464;15226675;15116054;12811365;12670950;12490595;12477932;12196548;12130747;11483603;11477075;11134001;10873595;10779507;10644574;10601278;21243006;22203093;22829776;19590950;20602615;20635135;20660695;20679960;20712525;18695635;16255851;19442037;19620935;19642078;19667110;19760661;19771428;19776292;19833260;19842932;19858149;19890249;19901119;19934028;19952871;19956635;20031551;20040338;20051929;20078617;20173083;20175818;20207952;20212519;20347093;20389299;20403997;20514852;22240838;20837016;20839930;20877131;20973885;21072184;20827719;14579113;21245207;20406215;21309757;21646302;21092521;23010650;22842957;23625433;23216274;23236639;21849517;21851379;22147369;21327909;21691816;21709081;21902813;22088425;21743379;21787759;21992719;21500146;21655991;21719246;22041697;22505549;22562052;22574206;22749334;22178260;21457551;21886157;22189199;22232210;22136368;23190519;23361102;22695893;23233662;23263738;23281178;23285087;23556337;21882531;23248200;22771883;23708174 10599 Q05CV5;Q9Y6L6 AB026257;ABBA01067967;ABBA01067968;AC022335;AF060500;AF205071;AJ132573;AJ400749;AJ400750;AJ400751;AJ400752;AJ400753;AJ400754;AJ400755;AJ400756;AJ400757;AJ400758;AJ400759;AJ400760;AJ400761;AJ400762;AK312970;AMYH01004318;AY945934;BC005243;BC020696;BC054878;BC070172;BC105596;BC114376;CH471094;CQ969227;CS172507;GN060123;NG_011745;NM_006446 AAD38323;AAF20212;AAH20696;AAH54878;AAH70172;AAI05597;AAI14377;AAX20114;BAA78639;BAG35809;CAB62577;CAB97007;CAI38410;CAJ33680;CAX52185;EAW96420;EAW96421;NP_006437;Q9Y6L6 Hs.449738 1771676;1782612;2108915 RH1600;SHGC-153709;SLC21A6_1910.2 HBLRR;LST-1;LST1;MGC133282;OATP-C;OATP1B1;OATP2;OATPC;SLC21A6 OATP-2;OTTHUMP00000239999;liver-specific organic anion transporter 1;sodium-independent organic anion-transporting polypeptide 2;solute carrier family 21 (organic anion transporter), member 6;solute carrier family 21 member 6;solute carrier organic anion transporter family member 1B1 APPROVED protein-coding ENSG00000134538 10959 09214 237450;604843 REVIEWED 1314947 SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012] 3 3 3 q24 141407434 141990172 - 144466754 145049979 - 142984064 143567373 - 1580863;6480464;7240710 15522866;19268276;18937294;18821565;18649358;17903302;16344560;15489334;14702039;14569117;12477932;20732626;20032819;20379614;20708005;21171650;21555518;21908519;22566498;21858920;23374588 285195 C9IZP1;F8WF83;Q8IVB4 AB075486;AB089794;ABBA01059011;ABBA01059012;ABBA01059013;ABBA01059014;AC016934;AC073242;AC073358;AC107421;AC116423;AC131210;AI252807;AK092932;AK301816;AK315107;AL832304;AMYH01013552;AMYH01013553;AMYH01013554;AY254100;BC035779;CH471052;DA387367;DB285312;NG_017077;NM_173653 AAH35779;AAP80573;BAC04005;BAD69592;BAE45746;BAG37567;BAG63263;CAI46158;EAW78950;EAW78951;NP_775924;Q8IVB4 Hs.302257 1336275;1340136;1644682;1708116;1708910;1721011;1755083;1756829;1760545;1761415;1763009;1765325;1772006;1772170;1784570;1784748;1784778;1784788;2147040;2185497;2186645;7186712 D3S1569;D3S3373;D3S3599;G59487;RH16165;SHGC-106921;SHGC-142017;SHGC-143952;SHGC-143982;SHGC-145424;SHGC-146757;SHGC-148816;SHGC-154454;SHGC-154961;SHGC-155079;SHGC-33458;SHGC-79506;SHGC-81458;STS-AA029791;WI-11313;WI-11352 AUTS16;FLJ35613;NHE9;Nbla00118 Na(+)/H(+) exchanger 9;OTTHUMP00000215083;putative protein product of Nbla00118;sodium/hydrogen exchanger 9;sodium/proton exchanger NHE9;solute carrier family 9 (sodium/hydrogen exchanger), isoform 9;solute carrier family 9 (sodium/hydrogen exchanger), member 9 APPROVED protein-coding ENSG00000181804 20653 12226 608396;613410 REVIEWED 1607085 SLCO1A2 solute carrier organic anion transporter family, member 1A2 This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008] 12 12 p12 21311651 21439638 - 21417534 21548371 - 6480464;6907045 9328325;7557095;9007731;19010908;18695635;18466105;16344560;15832500;15632119;12477932;11238933;10873595;10779507;9539145;9398014;22474172;22203093;21508937;21685912;19913121;20560925;20635135;20628086;15553237;19414484;19890249;20051929;20379614;20416077;20837016;14579113;22509823;22864060;21633340;21133891;21486766;21849517;22124880 6579 B4DJE6;C9IYW8;C9JCA7;C9JG34;C9JGK7;C9JHU9;C9JSB7;C9JTF6;C9JUW6;C9K059;F5GXY6;F5H060;P46721 ABBA01067968;AC006559;AC022224;AF085224;AF279784;AJ400735;AK296044;AK316249;AMYH01004319;BC042452;BC144256;BX093727;CH471094;DA184882;DA216595;DA220201;DA322842;DA412674;NM_021094;NM_134431;U21943;Y08062 AAA87732;AAD52694;AAG30037;AAH42452;BAG58808;BAH14620;CAB64372;CAB97006;EAW96422;EAW96423;EAW96424;EAW96425;NP_066580;NP_602307;P46721 Hs.46440 1645861;1663368;1688676;1690093;1743979;1768949;1782672;1796802;1849969;2140655;2145208;2170817;2217460 G17655;G29226;GDB:384719;IAPP_3999;RH44793;RH80996;RH93204;SGC35306;SHGC-153650;SHGC-57392;SLC21A3_1296;WI-11630;WI-20902 OATP;OATP-A;OATP1A2;SLC21A3 OATP-1;OTTHUMP00000209604;OTTHUMP00000209605;organic anion transporting polypeptide A;organic anion-transporting polypeptide 1;sodium-independent organic anion transporter;solute carrier family 21 (organic anion transporter), member 3;solute carrier family 21 member 3;solute carrier organic anion transporter family member 1A2 APPROVED protein-coding ENSG00000084453 10956 09112 602883 REVIEWED 1354473 SLCO4C1 solute carrier organic anion transporter family, member 4C1 SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008] 5 5 5 q21.2 97517512 97580066 - 101597589 101660152 - 101569690 101632253 - 6480464 14993604;19197249;19875811;14579113;20610891;19913121;20628086;20691413 353189 Q6ZQN7;Q9P181 ABBA01069153;AC008948;AC099515;AF119865;AF401643;AK128854;AMYH01015513;AY273896;BX647349;BX647577;BX647880;CH471086;NM_180991 AAF69619;AAI48352;AAI52990;AAP33047;AAQ03086;BAC87647;CAH56201;EAW49099;EAW49100;NP_851322;Q6ZQN7 Hs.127648 1697466;2107621 RH102234;SLCO4C1__6854 OATP-H;OATP-M1;OATP4C1;OATPX;PRO2176;SLC21A20 OTTHUMP00000222642;organic anion transporter M1;solute carrier family 21 member 20;solute carrier organic anion transporter family member 4C1 APPROVED protein-coding ENSG00000173930 23612 12354 609013 VALIDATED 736966 SLCO2A1 solute carrier organic anion transporter family, member 2A1 This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011] 3 3 q21 135134230 135231418 - 133651540 133748920 - 1580863;6480464 19138942;8787677;17474147;18353443;16344560;16339169;15864125;12477932;9832484;9618293;22060278;20346915;20424473;14579113;20357271;22696055;22906430;22197487;22331663;23509104;22553128 6578 E7EU40;F8W9W8;Q92959 AB201109;AB201110;AB201111;ABBA01059162;ABBA01059163;AC080128;AC117475;AF056732;AK303550;AK309561;AMYH01013511;BC041140;BC051347;BU783445;CH471052;DA592947;NG_031964;NM_005630;U70867 AAC09469;AAC62004;AAH41140;AAH51347;BAE03223;BAE03224;BAE03225;BAH13984;EAW79156;NP_005621;Q92959 Hs.518270 1646266;1796800 SHGC-77366;SLC21A2_824 MATR1;OATP2A1;PGT;PHOAR2;SLC21A2 OTTHUMP00000216361;OTTHUMP00000216362;OTTHUMP00000216363;matrin F/G 1;prostaglandin transporter;solute carrier family 21 (prostaglandin transporter), member 2;solute carrier family 21 member 2;solute carrier organic anion transporter family member 2A1 APPROVED protein-coding ENSG00000174640 10955 03269 601460;614441 REVIEWED 1350750 SLCO1B3 solute carrier organic anion transporter family, member 1B3 This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012] 12 12 p12 20854905 20960925 + 20963638 21069845 + 1580863;2303132;2303109;2302565;2303111;631887;2316977;6480464;6907045 12127424;17916651;16895976;16858290;10500057;17353665 18509328;11159893;10779507;19343046;19228751;19122334;19074900;18690707;18537956;18519758;18509327;18391951;18321482;18314419;18294295;18180273;18082941;17906856;17760952;17496208;17412826;17186002;16877380;16741617;16534140;15226676;15159445;14739090;14702039;12695556;12477932;12055601;11677211;11375950;20560925;20635135;20639394;20660695;20679960;20720558;18029348;20877131;14993604;19419973;19442037;19620935;19890249;20051929;20130966;20212519;18695635;20615467;14579113;21212528;21278621;21615622;21256917;21266523;21606417;22580719;21849517;23236639;21787759;21691816;21626360;23188068;8889548;21719246;21995462;22136368;22147445;22185815;22203093;22221095;22227166;22232210;22326869;22695893;22352740;22240838;23371916;23352438;22771883 28234 B3KP78;F5H8K0;H0YGG9;Q5JAR4;Q9NPD5 ABBA01067962;ABBA01067963;AC011604;AF187815;AJ251506;AJ400763;AJ400764;AJ400765;AJ400766;AJ400767;AJ400768;AJ400769;AJ400770;AJ400771;AJ400772;AJ400773;AJ400774;AJ400775;AJ400776;AK055874;AMYH01004318;AY342017;BC022843;BC058006;BC070264;BC105597;BG567966;BM968322;CH471094;NG_032071;NM_019844 AAG43445;AAH22843;AAH70264;AAI05598;AAI41526;AAQ19672;BAG51590;CAB96997;CAB97008;EAW96413;EAW96414;EAW96415;NP_062818;Q9NPD5 Hs.504966 1796804;2171149 RH68705;SLC21A8_826 HBLRR;LST-2;LST-3TM13;LST3;OATP-8;OATP1B3;OATP8;SLC21A8 LST-2;OATP-8;OTTHUMP00000239924;OTTHUMP00000239942;liver-specific organic anion transporter 2;liver-specific organic anion transporter 3TM13;organic anion transporter 8;organic anion transporter LST-3c;organic anion-transporting polypeptide 8;solute carrier family 21 (organic anion transporter), member 8;solute carrier family 21 member 8;solute carrier organic anion transporter family member 1B3 APPROVED protein-coding ENSG00000111700 10961 12021 237450;605495 REVIEWED 1349513 SLEB1 systemic lupus erythematosus susceptibility 1 7240710 9045876 7833 1335312;1335412;1336704;1337665;1339856;1341601;7183716;7185442;7186362;7186948 D1S103;D1S229;D1S235;D1S245;D1S2785;D1S2800;D1S3462;D1S446;D1S484 11080 601744;608556 1346708 SLEB2 systemic lupus erythematosus susceptibility 2 7240710 10677248 56179 1298231;1298234;1336218;1339619;1341679;7185427;7186284 D2S1391;D2S151;D2S162;D2S301;D2S325 11081 126200;605218 1344156 SLEB3 systemic lupus erythematosus susceptibility 3 7240710 11078476 64695 1298103;1331564;7186345 D4S2366;D4S403 14535 1348123 SLEH1 systemic lupus erythematosus with hemolytic anemia 1 7240710 170682 1298202 D11S2002 17420 1351659 SLEN1 systemic lupus erythematosus with nephritis 1 7240710 12215904 192677 18542 1349376 SLEN2 systemic lupus erythematosus with nephritis 2 7240710 12215904 192679 1299886 D2S2972 18543 1347311 SLEN3 systemic lupus erythematosus with nephritis 3 7240710 12215904 282849 1339636 D11S1984 18544 1342797 SLEV1 systemic lupus erythematosus, vitiligo-related 1 7240710 11592035 140652 18176 606579;615225 731528 SLCO1C1 solute carrier organic anion transporter family, member 1C1 This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 12 12 p12.2 20739666 20797587 + 20848289 20906320 + 1580863;634158;6480464 11981753 22569225;19290786;19179441;19129463;18845642;18687783;18566113;18410547;18391951;17574004;16357150;16344560;16131319;15667314;15652527;15489334;12477932;12351693;15553237;14579113;21508134;21486766;21906983;20881960 53919 F5H6S4;Q9NYB5 ABBA01067957;AC092491;AF205076;AF260704;AK294333;AK296236;AK303713;AK308729;AL834209;AMYH01004318;BC022461;CH471094;DA345251;NM_001145944;NM_001145945;NM_001145946;NM_017435 AAF70338;AAG42208;AAH22461;ABW03661;BAH11737;BAH12289;BAH14027;CAI46209;EAW96411;EAW96412;NP_001139416;NP_001139417;NP_001139418;NP_059131;Q9NYB5 Hs.47261 2131185 RH46261 OATP-F;OATP1;OATP14;OATP1C1;OATPF;OATPRP5;SLC21A14 OAT-RP-5;OATP-14;OTTHUMP00000239827;OTTHUMP00000239828;OTTHUMP00000239829;organic anion transporter F;organic anion transporter polypeptide-related protein 5;organic anion transporting polypeptide 14;organic anion-transporting polypeptide 14;solute carrier family 21 (organic anion transporter), member 14;solute carrier family 21 member 14;solute carrier organic anion transporter family member 1C1;thyroxine transporter APPROVED protein-coding ENSG00000139155 13819 08342 613389 REVIEWED 1353358 SLCO6A1 solute carrier organic anion transporter family, member 6A1 5 5 5 q21.1 97655507 97782570 - 101735550 101862619 - 101707651 101834720 - 6480464 19397531;12677006;12477932;19571808;20379614;22412388 133482 C9J020;H0Y8R6;Q86UG4 ABBA01069153;AC094108;AC113417;AF505657;AK131445;AMYH01015514;AMYH01015515;AY273897;BC034976;BM554439;CH471086;HC044607;NM_173488 AAH34976;AAP30851;AAP33048;ABM84485;ABM84968;BAD18590;CBH30633;EAW49095;EAW49096;EAW49097;EAW49098;NP_775759;Q86UG4 Hs.388874 CT48;GST;MGC26949;OATP6A1;OATPY OATP-I;OTTHUMP00000222643;OTTHUMP00000222644;OTTHUMP00000222645;cancer/testis antigen 48;gonad-specific transporter;organic anion-transporting polypeptide 6A1;organic anion-transporting polypeptide I;solute carrier family 21 member 19;solute carrier organic anion transporter family member 6A1;testis-specific organic anion transporter protein-coding ENSG00000205359 23613 15400 613365 VALIDATED 736486 SLCO2B1 solute carrier organic anion transporter family, member 2B1 This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010] 11 11 q13 74539811 74594947 + 74862032 74917445 + 1580863;2316977;6480464 17353665 8889548;18501590;19620935;19383542;19343046;19237515;17906856;16908597;16754786;15489334;15226675;14702039;12477932;12409283;12130747;11932330;10873595;10048485;20974993;19940267;20159975;20173083;11159893;14579113;20560925;20635135;20679960;22822035;21832049;22201122;21278488;21266523;21606417;21849517;22021325;21780830;23132664;23151832;23531488;23190519 11309 B4DGA9;C7BWB6;E7ERN5;E9PI53;E9PIU9;E9PN87;E9PPJ4;E9PPU8;E9PRW4;H0YE11;O94956 AB020687;AB026256;ABBA01017472;ABBA01017473;AF205073;AK127289;AK127363;AK290234;AK294503;AK296079;AK300134;AK302492;AK304783;AL117465;AL833466;AMYH01003814;AP001972;BC041095;BC127254;CH471076;CK299190;CQ969225;DC335261;DC343392;DC362722;FM209049;FM209050;FM209051;FM209052;FM209053;GN060121;NG_027921;NM_001145211;NM_001145212;NM_007256 AAG42205;AAH41095;BAA74903;BAA78638;BAF82923;BAG57720;BAG58835;BAG61922;BAG63777;BAG65535;CAB55940;CAH56206;CAI38409;CAR64268;CAR64269;CAR64270;CAR64271;CAR64272;CAX52184;EAW74956;EAW74957;EAW74958;NP_001138683;NP_001138684;NP_009187;O94956 Hs.7884 1737885;1782310;2108917;2128078;2146836;2164080;5014051;5014053;5109281;7185995 D11S1073;D11S3488;D1S1425;D1S3693;D8S2278;RH45548;SHGC-142426;SLC21A9_406.2;STS-T26641 DKFZp686E0517;KIAA0880;OATP-B;OATP2B1;OATPB;SLC21A9 OATP-RP2;OATPRP2;OTTHUMP00000229671;OTTHUMP00000229672;OTTHUMP00000229673;OTTHUMP00000229674;OTTHUMP00000229675;OTTHUMP00000229681;organic anion transporter B;organic anion transporter polypeptide-related protein 2;solute carrier family 21 (organic anion transporter), member 9;solute carrier family 21 member 9;solute carrier organic anion transporter family member 2B1 APPROVED protein-coding ENSG00000137491 10962 07061 604988 REVIEWED 1316144 SLCO5A1 solute carrier organic anion transporter family, member 5A1 This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] 8 8 8 q13.3 66582145 66744912 - 70747129 70909762 - 70584568 70747299 - 1580863;6480464 14702039;12507753;12477932;20041166;20379614;20602915;21278488;21628590 81796 B3KUC7;E9PPI0;Q9H2Y9 AA602921;ABBA01041926;ABBA01041927;AC024680;AC079089;AC091047;AF205075;AK022760;AK096879;AK299048;AK307567;AK308488;AMYH01018780;BC016067;BC137424;BC139755;BC144618;CA449383;CH471068;NM_001146008;NM_001146009;NM_030958 AAG42207;AAH16067;AAI37425;AAI39756;BAG51109;BAG53389;BAG61121;EAW86957;EAW86958;NP_001139480;NP_001139481;NP_112220;Q9H2Y9 Hs.152460;Hs.443609 1733494;1748813;1752317;1773430;1798178 AFMA205XE9;D8S1061;SHGC-106286;SHGC-110440;SLC21A15_822 FLJ39560;OATP-J;OATP-RP4;OATP5A1;OATPRP4;SLC21A15 OATP-RP4;OTTHUMP00000228515;OTTHUMP00000228516;OTTHUMP00000228518;organic anion transporter polypeptide-related protein 4;solute carrier family 21 (organic anion transporter), member 15;solute carrier family 21 member 15;solute carrier organic anion transporter family member 5A1 APPROVED protein-coding ENSG00000137571 19046 15399 613543 REVIEWED 733471 SLCO3A1 solute carrier organic anion transporter family, member 3A1 15 15 15 q26 68809625 69127530 + 90197950 90507783 + 92396938 92715665 + 1580863;6480464 19330903;18521091;16971491;15489334;14702039;14631946;12542534;12495658;12477932;10873595;14579113;15553237;18821565;20379614;21486766;21278488;22377092;22076464;23251661 28232 G3V2B7;G3V3K4;G3V4E8;H0YJM0;Q9UIG8 AB031050;ABBA01053087;ABBA01053088;ABBA01053089;AC104020;AC104236;AC113190;AC116903;AC135996;AF187816;AF205074;AK057031;AK097797;AK290872;AK308463;AK310306;AMYH01006926;AMYH01006927;AMYH01006928;AMYH01006929;BC000585;CH471101;CQ969229;FJ515841;NM_001145044;NM_013272 AAG42206;AAG43446;AAH00585;ABM82880;ABM86066;ACS13734;BAA89287;BAF83561;BAG51847;BAG53529;CAI38411;EAX02146;EAX02147;EAX02148;NP_001138516;NP_037404;Q9UIG8 Hs.311187 1340735;1678991;1688650;1722017;1750911;1769868;1783292;1783306;1798176;1852113;1853698;1857982;2112942;2112944;2112946;2112948;2112950;2112982;5017489;5093724 A009V33;D15S1415E;D15S1417E;D15S1421E;D15S1423E;D15S1426E;D15S1450E;D15S652;D15S671;G32886;G59895;RH99134;RH99257;SHGC-104662;SHGC-171522;SHGC-82159;SLC21A11_1798;SLCO3A1;WI-18111;WIAF-2077 FLJ40478;OATP-D;OATP3A1;OATPD;SLC21A11 OATP-RP3;OATPRP3;OTTHUMP00000194777;OTTHUMP00000246724;OTTHUMP00000246728;PGE1 transporter;organic anion transporter polypeptide-related protein 3;organic anion-transporting polypeptide D;sodium-independent organic anion transporter D;solute carrier family 21 (organic anion transporter), member 11;solute carrier family 21 member 11;solute carrier organic anion transporter family member 3A1 protein-coding ENSG00000176463 10952 07502 612435 VALIDATED 2291763 SLFN12L schlafen family member 12-like 17 17 17 q12 30708342 30775018 - 30822269 30888993 - 33801942 33814758 - 6480464 16344560;14569139;9846487;21145461;20045101;20379614;14702039;16625196;20800221 100506736 F5H6G3;J3KQ81;Q6IEE8 ABBA01011230;AC015911;AK172761;AMYH01008354;BN000147;DA814276;NM_001195790 CAD80167;NP_001182719;Q6IEE8 Hs.447559 1340036;1686370;1724977;1729705;1775262;2116428 D17S583;D17S907;RH118776;RH17438;RH45318;WI-22629 FLJ23922 OTTHUMP00000236556;OTTHUMP00000238672;schlafen family member 12-like protein-coding ENSG00000205045 33920 614956 VALIDATED 735453 SLCO4A1 solute carrier organic anion transporter family, member 4A1 20 20 20 q13.33 57949700 57979500 + 60744242 60774092 + 61273797 61303647 + 1580863;727314;6480464 11316767 19343046;15994332;15489334;15302935;14702039;12915686;12477932;11780052;10873595;16341674;14579113;21486766;21906983;21987572;22505724 28231 E1P5H9;Q96BD0 AB031051;ABBA01021366;ABBA01021367;ABBA01045411;AF104334;AF187817;AF205072;AI660559;AK000551;AK023410;AK095985;AL357033;AMYH01012058;BC015727;BM846201;CH471077;CQ969231;GN060127;NM_016354 AAF15545;AAG42204;AAG43447;AAH15727;ABM83783;ABM87103;BAA89288;BAA91247;BAB14566;CAI38412;CAX52187;EAW75348;EAW75349;EAW75350;EAW75351;NP_057438;Q96BD0 Hs.235782 1685065;1687786 RH65335;RH74808 OATP-E;OATP1;OATP4A1;OATPE;OATPRP1;POAT;SLC21A12 OATP-RP1;OTTHUMP00000031492;OTTHUMP00000031493;colon organic anion transporter;organic anion transporter polypeptide-related protein 1;organic anion transporting polypeptide E;organic anion-transporting polypeptide E;sodium-independent organic anion transporter E;solute carrier family 21 (organic anion transporter), member 12;solute carrier family 21 member 12;solute carrier organic anion transporter family member 4A1 protein-coding ENSG00000101187 10953 11582 612436 VALIDATED 6767045 SLFNL1-AS1 SLFNL1 antisense RNA 1 1 p34 41480262 41509562 + 100507178 ABBA01023155;AL110502;AL157461;AL391730;AMYH01000540;AMYH01000541;NR_037868 Hs.660056 1686440;1694530;1721809;1722523;1854910;1856084;2137298;2155605;5019895;5020948;5022578;5022651;5037552 AL010124;D11S2921;D1S1423;D8S2279;G27473;G35510;G43043;G54630;G59927;G60187;RH99163;SHGC-74656;SHGC-74660 APPROVED miscrna 44126 VALIDATED 1602272 SLFN14 schlafen family member 14 17 17 17 q12 30785278 30795239 - 30899371 30909194 - 33875144 33885110 - 12477932;9846487;22139419 342618 P0C7P3 ABBA01011230;AC015911;AMYH01008354;BC140847;BC157877;BC157879;BU658532;CH471147;NM_001129820 AAI40848;AAI57878;AAI57880;EAW80144;NP_001123292;P0C7P3 Hs.591193 1722545;2122804;2130084 G60199;RH35897;SHGC-34858 schlafen family member 14 protein-coding ENSG00000236320 32689 614958 PROVISIONAL 1605673 SLFN12 schlafen family member 12 17 17 17 q12 30648230 30669690 - 30762192 30783656 - 33738079 33759543 - 6480464 15489334;14702039;12477932;9846487 55106 C9J4K7;C9JIA1;Q8IYM2 ABBA01011230;AC060766;AK001122;AK291826;AMYH01008354;BC035605;BX647081;CH471147;NM_018042 AAH35605;BAA91512;BAF84515;EAW80154;EAW80155;NP_060512;Q8IYM2 Hs.663548 FLJ10260;SLFN3 OTTHUMP00000163883;OTTHUMP00000163884;schlafen family member 12 protein-coding ENSG00000172123 25500 08543 614955 VALIDATED 1605312 SLFN11 schlafen family member 11 17 17 17 q12 30587468 30610868 - 30701437 30724833 - 33677324 33700720 - 6480464 11256614;16381901;15489336;15489334;15342556;14702039;12477932;11230166;11076863;9846487;17643375;22990118;23022380;22927417;23000900;21890473;22505724 91607 C9J902;C9JDG6;C9JUT2;K7EIM3;K7EJJ3;K7EKT7;K7ER38;K7ES87;Q7Z7L1 ABBA01011230;AC060766;AK074184;AK092241;AL512731;AL831964;AMYH01008353;AMYH01008354;BC052586;BM996330;BP245452;BX490030;CB265500;CH471147;NM_001104587;NM_001104588;NM_001104589;NM_001104590;NM_152270 AAH52586;AAI41661;BAB85010;BAC03835;CAD38606;CAL38551;EAW80156;EAW80157;EAW80158;NP_001098057;NP_001098058;NP_001098059;NP_001098060;NP_689483;Q7Z7L1 Hs.462829 1657885;5022651 D11S2921;SHGC-53150 FLJ34922;SLFN8/9 OTTHUMP00000163875;OTTHUMP00000163876;schlafen family member 11 protein-coding ENSG00000172716 26633 08178 614953 VALIDATED 5487909 SLIT2-IT1 SLIT2 intronic transcript 1 (non-protein coding) 4 20393812 20396479 + 11181995 100505893 ABBA01032643;AC108011;AMYH01014046;BC041440;BI831389;BX089083;CH471069;NR_037876 EAW92794 Hs.665305 1698226 RH102649 miscrna 41383 VALIDATED 1603573 SLFN13 schlafen family member 13 17 17 17 q12 30672287 30686046 - 30786228 30799885 - 33762115 33775856 - 6480464 11256614;16381901;16344560;15489336;14702039;11230166;11076863;9846487;12477932 146857 E9PKT7;E9PM29;E9PMV5;K7EPV8;Q68D06 ABBA01011230;AC015911;AC060766;AK056514;AK074465;AK122750;AK126184;AK127728;AL832726;AL833747;AMYH01008354;BC136622;BC171771;CH471147;CR749630;DA720331;NM_144682 AAI36623;AAI71771;BAB71201;BAG53704;BAG54293;CAH18424;CAH56227;CAL37815;EAW80150;EAW80151;EAW80152;EAW80153;NP_653283;Q68D06 Hs.462833 5022578 D1S1423 DKFZp666J196;DKFZp686I026;FLJ31952;SLFN10 OTTHUMP00000228452;OTTHUMP00000228454;OTTHUMP00000228456;OTTHUMP00000228457;schlafen family member 13 protein-coding ENSG00000154760 26481 08716 614957 VALIDATED 1603889 SLFN5 schlafen family member 5 17 17 17 q12 30480259 30504950 + 30594199 30618881 + 33570086 33594768 + 6480464 15489334;15342556;14702039;12477932;9846487;20956525;22939629;23022380;21139048;21906983;21252943;22505724 162394 B4E128;Q08AF3 ABBA01011228;ABBA01011229;AC022706;AC022916;AK054668;AK075116;AK303299;AK303632;AL832814;AMYH01008353;BC021238;BC125200;BC125201;BP281007;BX102817;BX647942;CD704489;CH471147;NM_144975 AAH21238;AAI25201;AAI25202;ABM83860;ABM87182;BAB70788;BAG64373;BAG64640;EAW80159;NP_659412;Q08AF3 Hs.709347 1783502;5121716;5124749 RH45715;RH79990;SHGC-145866 MGC150611;MGC150612;MGC19764 schlafen family member 5 protein-coding 28286 17519 614952 VALIDATED 733848 SLIT1 slit homolog 1 (Drosophila) 10 10 10 q23.3-q24 92499394 92687283 - 98750601 98935653 - 98757795 98945683 - 68762;634084;737816;2316136;6480464 9693030;9813312;11804570;16262652 10432110;18029348;18829537;17062560;16840550;16713569;16162649;12477932;12200164;12168954;12141424;12107412;10433822;10364234;11748139;15207848;16385451;23251661;23382691 6585 A6H8V1;O75093;Q5T0V0;Q5T0V2;Q5T0V3;Q5T0V4 AB011537;AB017167;ABBA01021819;AL442123;AL512424;AMYH01002976;AY029183;BC028105;BC139909;BC146761;BC146851;CD671648;CH471066;NM_003061 AAI46762;AAI46852;AAK31796;BAA32465;BAA35184;EAW49956;EAW49957;EAW49958;EAW49959;NP_003052;O75093 Hs.632082 1340608;1649403;1652799;1663975;1683271;1722757;1782188;2111005;2129208;2165709;2166617;2184246;5093026;5094832;5113471 A009E24;D10S1157;D10S1210;D10S1758;D10S477E;G32476;G60317;RH46480;RH66322;RH92281;RH94174;SHGC-156107;SLIT1;WI-13377;WI-15882 MEGF4;MGC164811;SLIL1;SLIT3;Slit-1 OTTHUMP00000020182;OTTHUMP00000020183;multiple EGF-like domains protein 4;multiple epidermal growth factor-like domains protein 4;slit homolog 1 protein protein-coding ENSG00000187122 11085 04773 603742 VALIDATED 1603541 SLFNL1 schlafen-like 1 1 1 1 p34.2 39764190 39770348 - 41253856 41259976 - 41481269 41487427 - 6480464 16710414;15489334;14702039;12477932;16344560;21832049 200172 Q499Z3 ABBA01023155;AK074458;AK097609;AK292296;AL391730;AMYH01000540;AMYH01000541;BC022037;BC037879;BC050353;CH471059;DB046748;NM_001168247;NM_144990 AAH22037;AAH37879;AAH50353;BAB85090;BAF84985;EAX07187;EAX07188;EAX07189;NP_001161719;NP_659427;Q499Z3 Hs.194609 1686440;5015619;5037552 D11S3114;D8S2279;RH99163 FLJ23878;MGC43873 OTTHUMP00000006326;OTTHUMP00000006327;OTTHUMP00000006328;OTTHUMP00000006329;schlafen-like protein 1 protein-coding ENSG00000171790 26313 08044 VALIDATED 733245 SLIT3 slit homolog 3 (Drosophila) The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 5 5 q35 168025857 168660554 - 168093071 168728133 - 68762;634084;1580863;2316136;6480464 9693030;9813312;16262652 10349621;19240061;19228371;18829537;18628988;16840550;16162649;15231749;14702039;12975309;12477932;12358155;12141424;11754167;11443047;11748139;15207848;18566128;19741192;20163849;20379614;20298552;21078908;21152026;22922792;21465248;20881960;22614124 6586 J3KNP3;O75094 AB011538;AB017169;ABBA01044111;ABBA01044112;ABBA01044113;ABBA01044114;ABBA01044115;ABBA01044116;ABBA01044117;ABBA01044118;ABBA01044119;ABBA01044120;ABBA01044121;AC008409;AC008479;AC011365;AC011389;AC027311;AC094081;AC112165;AF075240;AF086552;AI741785;AK001626;AK310549;AL122074;AMYH01015796;AMYH01015797;AMYH01015798;AMYH01015799;AMYH01015800;AY358884;BC098388;BC142665;BC142717;BC146759;CH471062;HY285022;NG_033081;NM_001271946;NM_003062 AAD19336;AAI46760;AAQ89243;BAA32466;BAA35186;CAB59249;EAW61499;EAW61500;EAW61501;NP_001258875;NP_003053;O75094 Hs.552087 1334585;1339784;1341104;1341950;1342149;1644309;1648690;1658786;1683353;1688500;1696246;1698062;1751371;1752405;1753615;1757001;1758793;1759729;1761719;1764067;1776406;1780730;1780734;1785258;1785404;1785454;1846951;1851221;1853108;2108507;2117562;2121174;2127519;2139950;2139954;2152511;2158161;5021916;7186059 A003N35;AFMa109xa5;D21S2030;D5S2043;D5S2045;D5S2052;D5S2075;D5S2559;D5S400;D5S605;G16886;G16910;G16948;RH102563;RH92323;RH92760;SGC32449;SGC44608;SHGC-105008;SHGC-105270;SHGC-106334;SHGC-107512;SHGC-143393;SHGC-144356;SHGC-145693;SHGC-147724;SHGC-149272;SHGC-150624;SHGC-150783;SHGC-83613;SLIT3_8631;STS-R89593;WI-11149;WI-14817;WI-17129;bac51840S;bac51858T;ha3001 FLJ10764;MEGF5;SLIL2;SLIT1;Slit-3;slit2 OTTHUMP00000160960;OTTHUMP00000223095;multiple EGF-like domains protein 5;multiple epidermal growth factor-like domains protein 5;slit homolog 3 protein protein-coding ENSG00000184347 11087 04775 603745 REVIEWED 1323602 SLIRP SRA stem-loop interacting RNA binding protein Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008] 14 14 14 q24.3 58212937 58222439 + 77244188 77253694 + 78174414 78183941 + 6480464 15342556;8889548;17081983;16762838;16341674;15489334;12477932;20200222;19596235;19615732;19680543;20877624;16196087;18029348;20186120;21139048;21890473;22939629;22190034;22661577 81892 G3V2S9;G3V4X6;H0YJ07;H0YJ40;H0YJI1;H0YJU7;H0YJW7;Q9GZT3 ABBA01030646;AC008044;AC008372;AF253980;AF271779;AJ272055;AMYH01005884;AY860853;BC017895;BM685909;BP289922;BQ083727;BU944910;BU955571;BU960115;CH471061;EL951262;NM_001267863;NM_001267864;NM_031210;NR_052025 AAG44629;AAG44790;AAH17895;AAX58600;ADR82692;CAC81241;EAW81303;EAW81304;NP_001254792;NP_001254793;NP_112487;Q9GZT3 Hs.655105 1848417;2145862 D14S857;G36014 C14orf156;DC50;PD04872 OTTHUMP00000246303;OTTHUMP00000246304;OTTHUMP00000246305;OTTHUMP00000246306;OTTHUMP00000246308;SRA stem-loop-interacting RNA-binding protein, mitochondrial APPROVED protein-coding ENSG00000119705 20495 12639 610211 VALIDATED 1318872 SLITRK1 SLIT and NTRK-like family, member 1 This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 13 13 q31.1 83349344 83354529 - 84451343 84456528 - 1580863;6480464;7240710 19240061;19018236;18722020;18698576;18413575;18021920;18004766;17712845;17671968;17083340;17035247;17003809;16936762;16323357;16224024;15489334;15057823;14557068;14550773;12975309;12477932;11572484;21458401;20351724;20301778;16344560;22365631;23326512 114798 Q96PX8 AA677641;AB067497;ABBA01021738;ABBA01021739;AI500170;AK299479;AL355481;AMYH01005246;AY358289;BC051738;CH471093;DA240278;DC334447;HY157227;NG_016748;NM_001281503;NM_052910 AAH51738;AAQ88656;BAB67803;BAG61443;EAW80608;NP_001268432;NP_443142;Q96PX8 Hs.415478;Hs.627477;Hs.694617 1736356;1857774;1857776;2139733;2152680;5021966;5023105 D13S865E;G31128;RH66461;WI-20640;WI-21805;btcn17872;contig_113052 FLJ54428;KIAA0918;KIAA1910;LRRC12;RP11-395N17.1;TTM OTTHUMP00000018546;SLIT and NTRK-like protein 1;leucine-rich repeat-containing protein 12;slit and trk like gene 1 APPROVED protein-coding ENSG00000178235 20297 18063 137580;609678;613229 REVIEWED 733021 SLIT2 slit homolog 2 (Drosophila) 4 4 p15.2 19864333 20229886 + 20255235 20620788 + 634084;1580863;2316127;2316132;6480464;6484113 9813312;19783284;15215188 16636676;16439689;16162649;15489334;14702039;14645233;12881718;12615722;12477932;12384551;12200164;12141424;11404413;11375980;11309622;11239147;11222645;10975526;10864954;10575218;10364234;10349621;10102266;12941633;17268810;16840550;10102268;10197527;10432110;10102269;15130495;19351956;19350278;19100240;19048120;18829537;18611862;18269211;17968499;17903301;17848514;17609981;17496152;17448996;21385904;20153733;20438712;19913121;20375003;20628086;20944010;10892742;11748139;15207848;17062560;18345009;18566128;19005219;19033678;19498462;19550140;19706539;19759280;19851296;19855388;20008733;20029409;20068157;20198315;20379614;21349947;22719878;21283129;21264840;21686327;22011669;22241990;22865890;21627385;21857494;17314511;21894562;22198087;21986575;21465248;23671423;18985028;23119100;22315090;22826604;23294842;22898079;23314748;22613430 9353 E9PCX4;F5H0U4;H0Y968;H0Y9Z6;O94813 AB017168;ABBA01032641;ABBA01032642;ABBA01032643;ABBA01032644;ABBA01032645;AC021118;AC092577;AC096718;AC108011;AF055585;AF133270;AK027326;AK126459;AK308444;AMYH01014046;AMYH01014047;BC117190;BC143978;CH471069;NM_004787 AAD04309;AAD25539;AAI17191;AAI43979;AAY41008;AAY41010;BAA35185;BAG51304;EAW92792;EAW92793;NP_004778;O94813 Hs.29802 1644109;1645746;1645766;1650468;1651831;1651833;1659160;1662187;1666582;1670202;1683361;1698226;1765815;1766051;2113760;2115585;2128228;2149203;2151447;2163192;2167515 D4S1063;D4S1372;D4S2611;D4S2742;D4S279;D4S3124;D4S331;D4S544;G34103;G34229;RH102649;SHGC-149242;SHGC-149436;SHGC-24805;SHGC-50557;SHGC-50605;SHGC-50719;SHGC-51362;SHGC-67708;SLIT2;STS-R78732 FLJ14420;SLIL3;Slit-2 OTTHUMP00000158695;OTTHUMP00000217852;OTTHUMP00000217853;OTTHUMP00000217854;slit homolog 2 protein protein-coding ENSG00000145147 11086 04776 603746 PROVISIONAL 1348582 SLITRK4 SLIT and NTRK-like family, member 4 This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X X q27.3 142997864 143011197 - 142543584 142550685 - 142710595 142723926 - 737633;1580863;6480464 12477932 15489334;14702039;14557068;14550773;16344560 139065 B2RCC8;Q8IW52 ABBA01066405;ABBA01066406;ABBA01066407;AC239921;AI286228;AK057619;AK092016;AK315044;AL080239;AL713693;AMYH01023125;BC040986;CH471170;DA774595;DA802760;NG_021344;NM_001184749;NM_001184750;NM_173078 AAH40986;ADZ15615;BAB71535;BAG37525;CAD28493;CAI41650;EAW78020;NP_001171678;NP_001171679;NP_775101;Q8IW52 Hs.272284 2106627;2134711 RH15938;SLITRK4__5446 DKFZp547M2010 OTTHUMP00000024187;OTTHUMP00000024188;SLIT and NTRK-like protein 4;slit and trk like gene 4 APPROVED protein-coding ENSG00000179542 23502 06486 300562 REVIEWED 1321448 SLITRK3 SLIT and NTRK-like family, member 3 Members of the SLITRK family, such as SLITRK3, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK3, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] 3 3 3 q26.1 163303200 163313157 - 166387202 166397163 - 164904508 164914469 - 1580863;6480464 19336002;14557068;14550773;12477932;10048485;20237496;22318606 22865 C9K0R4;O94933 AB020655;ABBA01058751;AC013458;AK290024;AMYH01013629;BC040491;BC114621;CH471052;NM_014926 AAI14622;BAA74871;BAF82713;EAW78599;NP_055741;O94933 Hs.101745 KIAA0848;MGC138681 OTTHUMP00000212596;OTTHUMP00000212598;SLIT and NTRK-like protein 3;slit and trk like gene 3 APPROVED protein-coding ENSG00000121871 23501 18064 609679 VALIDATED 1315398 SLMO1 slowmo homolog 1 (Drosophila) 18 18 18 p11.21 12288649 12313115 + 12397928 12422234 + 12407895 12432237 + 737633;6480464 12477932 16344560;14702039;20877624 10650 B4E0C9;K7ELB4;K7ENN4;K7EP78;K7EPM9;K7EQM5;Q96N28 ABBA01074018;ABBA01074019;ABBA01074020;AF048849;AK056046;AK303325;AL359942;AMYH01008835;AMYH01008836;AP001029;BC007528;BC106750;BT007092;CA446199;CH471113;CR627465;DB018070;EF444975;NM_001142405;NM_006553 AAC05143;AAI06751;AAP35755;ACA05988;BAB71083;BAG64391;CAB95773;CAH10669;EAX01547;EAX01548;EAX01549;EAX01550;NP_001135877;NP_006544;Q96N28 Hs.514718 2142060 G30968 C18orf43;DKFZp547K106;FLJ31484;HFL-EDDG1;MGC120170;PRELID3A OTTHUMP00000162475;chromosome 18 open reading frame 43;erythroid differentiation and denucleation factor 1;protein slowmo homolog 1 protein-coding ENSG00000141391 24639 09981 VALIDATED 1322151 SLITRK5 SLIT and NTRK-like family, member 5 Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] 13 13 13 q31.2 69166179 69173176 + 87122871 87129872 + 88324870 88331871 + 1580863;6480464 16212419;15489334;15057823;14702039;14557068;14550773;12477932;10048485 26050 B4DSH5;O94991 AB020725;ABBA01027272;AK024251;AK299744;AL603883;AMYH01005271;AW449813;BC098106;BC098287;BC103497;BC103509;CH471085;NM_015567 AAH98106;AAH98287;AAI03510;BAA74941;BAG51280;BAG61637;EAX08917;NP_056382;O94991 Hs.591208 1673747;1700706;2109859 RH103976;SHGC-57840;SLITRK5_9452 FLJ58374;KIAA0918;LRRC11;bA364G4.2 OTTHUMP00000018547;SLIT and NTRK-like protein 5;leucine rich repeat containing 11;leucine-rich repeat-containing protein 11;slit and trk like gene 5 APPROVED protein-coding ENSG00000165300 20295 18065 609680 VALIDATED 1344547 SLITRK2 SLIT and NTRK-like family, member 2 This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010] X X X q27.3 145211704 145219715 + 144707042 144715052 + 144899347 144907360 + 1580863;6480464 19488044;16344560;15772651;15489334;14702039;14557068;12975309;12477932;11347906;8889548;20237496;20479760 84631 B3KTY4;Q9H156 AB058757;ABBA01054370;ABBA01054371;AK091015;AK096278;AK289732;AL109653;AMYH01023157;BC113011;BC113012;BM669862;CH471175;CR627412;DA184412;DA234617;DA239165;DA332123;DA411897;DA412276;DA496247;NG_016477;NM_001144003;NM_001144004;NM_001144005;NM_001144006;NM_001144008;NM_001144009;NM_001144010;NM_032539;Y19205 AAI13012;AAI13013;BAB47483;BAC03566;BAF82421;BAG53246;CAC80724;CAH10501;EAW53953;EAW53954;NP_001137475;NP_001137476;NP_001137477;NP_001137478;NP_001137480;NP_001137481;NP_001137482;NP_115928;Q9H156 Hs.320368 1653012;2220302 AB063047;RH18200 CXorf2;DKFZp451E1911;KIAA1854;MGC129912;MGC129913;SLITL1 OTTHUMP00000024190;OTTHUMP00000024191;SLIT and NTRK-like protein 2;slit and trk like gene 2;slit-like 1 APPROVED protein-coding ENSG00000185985 13449 06603 300561 REVIEWED 1315229 SLITRK6 SLIT and NTRK-like family, member 6 Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008] 13 13 13 q31.1 67280318 67286879 - 85264923 85271484 - 86366922 86373483 - 1580863;6480464 16381901;15489336;15489334;15057823;14702039;14557068;12477932;11230166;11076863;23543054;23326512 84189 Q9H5Y7 ABBA01012309;AK021931;AK026427;AK292793;AL137517;AL162373;AMYH01005260;BC101070;BC101071;BC101072;BC101073;BQ772084;BX648640;CD687435;CH471093;CQ860409;CQ860411;CQ860417;CQ861063;FB326355;NM_032229 AAI01071;AAI01072;AAI01073;AAI01074;BAB13941;BAB15480;BAF85482;CAB70783;CAH10557;CAH25964;CAH68812;CAH68813;CAH68816;CAL38445;CAR82286;EAW80611;NP_115605;Q9H5Y7 Hs.525105 2184699;5017765 RH70006;SLITRK6 MGC119595;MGC119596;MGC119597 4832410J21Rik;OTTHUMP00000218559;SLIT and NTRK-like protein 6;slit and trk like gene 6 APPROVED protein-coding ENSG00000184564 23503 15403 609681 VALIDATED 1345443 SLMO2 slowmo homolog 2 (Drosophila) 20 20 20 q13.32 54348621 54358322 - 57041595 57051296 - 57608200 57617901 - 6480464 15489334;14702039;12477932;11780052;10810093;20877624;19322201;22423221 51012 E9PL81;Q9Y3B1 ABBA01005967;AF151865;AK002157;AK298135;AK314449;AL109840;AMYH01012024;BC010649;BC013969;CH471077;CO248221;NM_001256403;NM_016045 AAD34102;AAH10649;AAH13969;ADZ15804;BAA92114;BAG60414;EAW75442;EAW75443;NP_001243332;NP_057129;Q9Y3B1 Hs.656865 1644487;1657577;1663818;2086358 REN114435;RH12018;RH78170;STS-R77463 C20orf45;PRELID3B;dJ543J19.5 OTTHUMP00000031406;OTTHUMP00000031407;chromosome 20 open reading frame 45;protein slowmo homolog 2 protein-coding ENSG00000101166 15892 12771 VALIDATED 733761 SLK STE20-like kinase 10 10 q24.33 105717460 105777332 + 105727470 105787342 + 2304069;6480464 12965890 18287541;17321610;17081983;16837460;15489334;15164054;12477932;12421765;11316611;11149944;10699464;10611247;9039502;3526554;14531806;21460842;16385451;18029348;19525980;19615732;18239682;22863883;22939629;12938929;21139048;21906983;23209304 9748 Q9NQL0 AB002804;ABBA01063087;AF273048;AK302855;AK307389;AL138761;AL360170;AMYH01003032;AMYH01003033;BC008697;BC036736;BC047762;BC047885;BC064804;BC111565;CH471066;D86959;EF139853;FB775502;NM_014720 AAG34908;AAH47762;AAH47885;AAH64804;AAI11566;BAA13195;BAA19655;BAG64041;CAV30708;EAW49615;EAW49616;EAW49617;EAW49618;NP_055535;Q9H2G2 Hs.591922 1663038;1683060;2108933 D10S2248;RH25417;SLK_8987 KIAA0204;LOSK;MGC133067;STK2;bA16H23.1;se20-9 CTCL tumor antigen se20-9;Long Ste20-like Kinase;OTTHUMP00000020425;OTTHUMP00000020426;SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase;SNF1 sucrose nonfermenting like kinase;STE20-like serine/threonine-protein kinase;STE20-related kinase;STE20-related serine/threonine-protein kinase;Ste20-related serine/threonine kinase;hSLK;serine/threonine kinase 2;serine/threonine-protein kinase 2 APPROVED protein-coding 11088 11585 PROVISIONAL 1313124 SLN sarcolipin Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008] 11 11 11 q22-q23 104732928 104737614 - 107083311 107087997 - 107578101 107582787 - 1580863;6480464 9367679;17515962;17010328;15342556;12692302;12645548;12477932;12032137;11781085;11772399;9575189;8681137;19913121;20628086;21640081 6588 O00631 ABBA01039879;AK312097;AMYH01004016;AP002353;BC005261;BC094685;BC104150;BC104185;BC113930;BC113987;BP233121;CH471065;CR450290;F30315;NM_003063;U96093;U96094 AAB86980;AAB86981;AAH05261;AAH94685;AAI04151;AAI04186;AAI13931;AAI13988;BAG35033;CAG29286;EAW67094;NP_003054;O00631 Hs.334629 1665622;1719095;2129649;2218030 RH123265;RH41839;SLN_3870;WI-11530 MGC12301;MGC125854;MGC125855 sarcolipin APPROVED protein-coding ENSG00000170290 11089 03729 602203 REVIEWED 1317000 SLMAP sarcolemma associated protein 3 3 3 p21.2-p14.3 57757094 57928809 + 57718214 57889934 + 57743174 57914894 + 6480464 9405447;17081983;15489334;14702039;12975309;12477932;11042152;10997877;10986292;17353931;18029348;18782753;19615732;23064965;23277359;19156129;23251661 7871 B7Z863;B7Z964;C9JA20;C9JCH4;C9JPE6;H7BZK0;H7BZW9;H7C3M8;H7C5G9;H7C5S2;Q9Y681 AB046821;ABBA01024399;ABBA01024400;ABBA01024401;ABBA01024402;ABBA01024403;ABBA01024404;AC099777;AC114480;AF100750;AF304450;AK022561;AK124200;AK300106;AK302934;AK304493;AK316436;AL834538;AMYH01013224;AMYH01013225;AMYH01013226;AY358410;BC114627;BC115701;CH471055;CR627321;NM_007159 AAD43014;AAG41949;AAI14628;AAI15702;AAQ88776;BAB13427;BAC85803;BAH13213;BAH13849;BAH14200;BAH14807;CAD39194;CAH10369;EAW65347;EAW65348;EAW65349;EAW65350;NP_009090;Q14BN4 Hs.476432 1652347;1652920;1669829;1673069;1680567;2111892;2161711;2173086;2190529;2191275 D3S4053;D3S4071;EST17C8;G16530;MARC_17013-17014:1023291181:1;RH45625;RH47974;RH98947;STS-N21213;WI-13681 FLJ42206;KIAA1601;MGC138760;MGC138761;SLAP OTTHUMP00000165233;OTTHUMP00000213197;OTTHUMP00000213198;Sarcolemmal-associated protein;sarcolemmal membrane-associated protein protein-coding ENSG00000163681 16643 04079 602701 VALIDATED 1350976 SLPI secretory leukocyte peptidase inhibitor This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes; the protein is also thought to have broad-spectrum anti-biotic activity. [provided by RefSeq, Jul 2008] 20 20 q12 43314293 43316620 - 43880879 43883206 - 1580863;6480464 19039956;19333378;19254589;19154415;19095674;22786767;18976018;18688858;18667508;18425362;18285402;18173453;18075823;17964057;17878156;17371258;16776851;16384861;16355004;16015083;15812165;15650263;15492784;15489334;15315966;15248236;15167969;15155685;15039364;15039315;15020232;15015603;12934194;12874244;12819058;12759437;12732717;12526812;12351521;12206714;12183536;12023969;12023766;11912282;11868825;11817677;11780052;11759111;11667971;11435427;10869562;10833481;10704052;10702419;10355635;9843921;8573092;7539415;7515550;3640338;3533531;3485543;3462719;3366116;3060147;2110563;2039600;1674946;16928883;15858026;12477932;12355371;20378727;18953959;19271144;19900269;20047904;20068074;21377455;21335488;21077989;21503571;21676452;21641406;21687932;21940052;22493362;10548568;10598905;10799472;11170993;12392704;9456660;22537232 6590 P03973;Q6LDI0 ABBA01052657;AF114471;AK312192;AL035660;AMYH01011937;AX772818;BC020708;CH471077;CS106326;CS566122;GN341838;M74444;NG_028137;NM_003064;X04470;X04502;X04503 AAA60559;AAD19661;AAH20708;ABM82291;ABM85471;BAG35125;CAA28158;CAA28187;CAA28188;CAE06258;CAJ01313;CAN37611;CAY39338;EAW75869;NP_003055;P03973 Hs.517070 1709740;1734998;1795034;2181125 D20S523E;D20S726;PMC88765P1;SHGC-84681 ALK1;ALP;BLPI;HUSI;HUSI-I;MPI;WAP4;WFDC4 HUSI-1;OTTHUMP00000031775;WAP four-disulfide core domain 4;WAP four-disulfide core domain protein 4;antileukoproteinase;mucus proteinase inhibitor;protease inhibitor WAP4;secretory leukocyte protease inhibitor (antileukoproteinase);seminal proteinase inhibitor APPROVED protein-coding ENSG00000124107 11092 00121 107285 REVIEWED 7243348 SLX1B-SULT1A4 SLX1B-SULT1A4 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring SLX1B (SLX1 structure-specific endonuclease subunit homolog B) and SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1A and SULT1A3 genes located ~730 kb downstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Nov 2010] 15358107;20967262 100526831 AC133555;AMYH01007494;NR_037609 Hs.744871 miscrna 48353 VALIDATED 6908696 SLX1A-SULT1A3 SLX1A-SULT1A3 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located ~730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Nov 2010] 16 p 30205754 30215650 + 12477932;14702039;15358107;20967262;7695643 100526830 ABBA01013099;AC106782;AK094769;AK097386;AK122707;AK122733;AMYH01007497;BC014471;BC071688;BC111011;NR_037608;X84653 AAH14471;AAI11012;BAC85507;BAG52926;BAG53679;CAA59146 Hs.460558 1676706;1685391;1744201;1745599;1745601;5037552;5117514;5117558 D8S2279;GDB:435498;GDB:574035;GDB:579633;GDB:626005;GDB:626032;RH69023;RH80591 APPROVED miscrna 44437 VALIDATED 1605637 SLTM SAFB-like, transcription modulator 15 15 15 q22.1 36059189 36113796 - 56958536 57013144 - 59171244 59225852 - 6480464 19086053;14702039;12477932;21182207;22939629;20811636;18029348;22586326;21628590;15840729;18781797;19471022;21139048 79811 A8K5V8;H0YKH2;H0YKU6;H0YL55;H0YLE6;H0YLW7;H0YMM0;H0YMR6;H0YMW8;H0YNF3;H7BXE3;H7C3F4;Q9H8U9 ABBA01038976;ABBA01038977;AC025918;AC090515;AI215187;AI745094;AK000867;AK023275;AK024710;AK055195;AK131242;AK291423;AL834297;AMYH01006682;AW205376;BC014944;BC040120;BC046119;BC108656;BC140851;CD688133;CH471082;NM_001013843;NM_024755 AAH14944;AAH46119;AAI08657;AAI40852;BAA91401;BAB14502;BAB14971;BAF84112;BAG51484;CAH56362;EAW77550;EAW77551;EAW77552;EAW77553;NP_001013865;NP_079031;Q9NWH9 Hs.512932 1650025;1699556;1705970;1847854;1851292;2124469 RH103377;RH67863;RH77794;SHGC-79695;STS-H56197;WI-22631 DKFZp762G052;FLJ10005;FLJ13213;Met OTTHUMP00000082628;OTTHUMP00000082630;SAFB-like transcription modulator;modulator of estrogen induced transcription;modulator of estrogen-induced transcription protein-coding ENSG00000137776 20709 07819 VALIDATED 1604303 SLX1B SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010] 16 16 p11.2 29373376 29377041 + 29465822 29469545 + 6480464 15358107;12477932;8125298;19595722;19596236;19595721;19596235 79008 H3BRR6;Q9BQ83 AC133555;AK027092;AK225436;AMYH01007494;BC000754;BC000803;BC015990;BC019306;BC069007;BC130545;BC130547;NM_024044;NM_178044 AAH00754;AAH00803;AAH15990;AAH19306;AAH69007;AAI30546;AAI30548;BAB15654;NP_076949;NP_835145;Q9BQ83 Hs.728161 1788776;5112303 RH103211;RH133600 FLJ23439;GIYD1;GIYD2;MGC2532;MGC5178;SLX1A GIY-YIG domain containing 2;GIY-YIG domain-containing protein 1;OTTHUMP00000162987;OTTHUMP00000162988;structure-specific endonuclease subunit SLX1 APPROVED protein-coding ENSG00000181625 28748 14673 REVIEWED 1606825 SLU7 SLU7 splicing factor homolog (S. cerevisiae) Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008] 5 5 5 q33.3 155861110 155878652 - 159761226 159778746 - 159828648 159846168 - 6480464;6907045 15728250;10197984;15181151;17804646;16344560;16189514;12477932;11238888;10647016;21122810;11991638;16159877;18662664;22939629;18029348;19369195;21693764;21890473;21906983;22505724 10569 E5RGM7;E5RK41;O95391 ABBA01044218;ABBA01044219;AC091842;AF101074;AK000813;AK024875;AK314564;AMYH01015760;AY486334;BC010634;BE221264;CA976106;CH471062;DA232975;DA409854;DQ174516;DQ174517;NM_006425 AAD13774;AAH10634;AAS59410;ABA08382;ABA08383;ABM81963;ABM85142;BAG37147;EAW61554;EAW61555;EAW61556;NP_006416;O95391 Hs.435342 1644181;1723707;1735478;1794516;5022200;5037552 D5S1599E;D5S2666;D8S2279;L18426;PMC316594P1;RH121435 9G8;MGC9280;hSlu7 OTTHUMP00000160841;pre-mRNA-splicing factor SLU7;splicing factor;step II splicing factor SLU7;zinc knuckle motif containing APPROVED protein-coding ENSG00000164609 16939 12074 605974 REVIEWED 1603444 SLX1A SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010] 16 16 p11.2 30112718 30116383 + 30205164 30208887 + 15489334;15358107;12477932;12107412;19595721;19595722;19596235;19596236 548593 H3BPC3;Q9BQ83 ABBA01013099;AC106782;AC133555;AI885276;AMYH01007497;BC144462;BI757439;CD673028;NM_001014999;NM_001015000 AAI41498;AAI44463;AAI48778;NP_001014999;NP_001015000;Q9BQ83 Hs.729791 1788776;5112303 RH103211;RH133600 GIYD1;GIYD2;SLX1B GIY-YIG domain containing 1;GIY-YIG domain-containing protein 1;OTTHUMP00000045748;structure-specific endonuclease subunit SLX1 APPROVED protein-coding ENSG00000132207 20922 18681 REVIEWED 1346067 SLURP1 secreted LY6/PLAUR domain containing 1 The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008] 8 8 q24.3 143819364 143820831 - 143822362 143823829 - 1599051;1580863;6480464;7240710 11285253 9887370;8742060;14506129;14721776;18764860;17643396;16354194;15909066;15489334;14756676;14674887;12787122;12603845;12483299;12477932;10211827;19692209;20237496;20621062;20337899;20660165;22369755;20854438 57152 P55000 ABBA01005289;AC083841;AMYH01019092;AY579079;AY579080;BC069292;BC105133;BC105135;CH471162;NG_011494;NM_020427;X99977 AAH69292;AAI05134;AAI05136;AAT01436;AAT01437;CAA68237;EAW82308;NP_065160;P55000 Hs.103505;Hs.676358 1339060;1778567;5492951;5494017 D8S1751;RH70955;UniSTS:480733;UniSTS:483339 ANUP;ARS;ArsB;LY6LS;MDM ARS(component B)-81/S;OTTHUMP00000227216;SLURP-1;anti-neoplastic urinary protein;lymphocyte antigen 6-like secreted;secreted Ly-6/uPAR-related protein 1;secreted Ly6/uPAR related protein 1 APPROVED protein-coding ENSG00000126233 18746 05836 248300;606119 REVIEWED 1345916 SMA@ spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) 7813012 6592 11096 1352856 SLX4IP SLX4 interacting protein 20 20 20 p12.2 10485945 10674022 + 10363951 10552027 + 10415951 10604027 + 6480464 12477932;22902628;19596235;20379614;19394292;21555518 128710 H0YD23;Q5VYV7 ABBA01053932;ABBA01053933;ABBA01053934;ABBA01053935;ABBA01053936;AL034430;AL035456;AL133340;AL353599;AMYH01011710;BC020787;BC026094;CH471133;NM_001009608 AAH20787;AAH26094;EAX10342;NP_001009608;Q5VYV7 Hs.668782 1338698;1693382;1693400;1704842;1704844;1734186;1753403;2177683;2182737;5021880;5093398 A009N48;AL034503;AL034512;D20S160;D20S507;G32695;SHGC-107167;SHGC-58236;SHGC-79893;SHGC-79896;ha2028 C20orf94;bA204H22.1;bA254M13.1;dJ1099D15.3 OTTHUMP00000030279;SLX4-interacting protein;UPF0492 protein C20orf94;hypothetical protein LOC128710;protein SLX4IP APPROVED protein-coding ENSG00000149346 16225 12516 VALIDATED 1605402 SMA5 glucuronidase, beta pseudogene 5 5 q13 69812599 69888457 - 69776870 69881549 - 6480464 8565635;7977382;7680524;12477932 11042 AC108108;AC138827;AC146944;AK289851;BC070286;NR_034021;X83301 BAF82540;CAA58280 Hs.529793;Hs.652536 1721607;5017352 G59813;WI-19224 pseudo 18067 VALIDATED 1606824 SMA3 SMA3 5 q13 69176375 69452422 + 7240710 7977382;14702039;12477932 10571 Q15486 AC108108;AC131392;AC138827;AC139277;AC140134;AK094021;AL009030;BC002622;BC050737;NM_006780;X83299 AAH50737;ABM82829;CAA58278;CAC69829;CAC69830;NP_006771;Q15486 Hs.654587 FLJ36702;b55C20.2 protein-coding 10240 253300;253400;253550;271150 1347724 SLX4 SLX4 structure-specific endonuclease subunit This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded protein acts as a docking platform for the assembly of multiple structure-specific endonucleases.[provided by RefSeq, Jan 2011] 16 16 16 p13.3 3837948 3868351 - 3571183 3601586 - 3631182 3661585 - 6480464 15616553;15489334;14702039;12477932;11853319;11347906;22902628;19595721;19595722;19596235;19596236;19394292;21240275;21240277;21832049;19471022;20360068;22401137;21139048;21693764;21805310;21890473;21906983;22383991;20301575;23093618;22907656;22911665 84464 Q8IY92 AB058687;AB075867;ABBA01026743;ABBA01026744;AC006111;AK095411;AK122775;AL442083;AMYH01007094;BC029952;BC036335;BC104222;BC104223;BC112989;BC112990;BE887716;BM541728;CH471112;NG_028123;NM_032444 BAB47413;BAB85573;CAH10659;EAW85345;EAW85346;EAW85347;NP_115820;Q8IY92 Hs.143681 1688134;1756173;2157609;5022200;5022578;5022651;5037552 AFMa217xh1;D11S2921;D1S1423;D8S2279;L18426;RH92116;SHGC-143024 BTBD12;FANCP;KIAA1784;KIAA1987;MUS312 BTB (POZ) domain containing 12;BTB/POZ domain-containing protein 12;Fanconi anemia, complementation group P;OTTHUMP00000082733;SLX4 structure-specific endonuclease subunit homolog;structure-specific endonuclease subunit SLX4 APPROVED protein-coding ENSG00000188827 23845 12537 613278;613951 REVIEWED 1602897 SMAD5-AS1 SMAD5 antisense RNA 1 5 5 5 q31.1 131589942 131595319 - 135497375 135497680 - 135465202 135470579 - 6480464 10049768 9597 Q9Y6J3 ABBA01068719;AC009014;AF071111;AF086556;AMYH01015630;CH471062;NG_032037;NR_026763 AAD20804;EAW62197;Q9Y6J3 Hs.59666 DAMS;SMAD5AS;SMAD5OS APPROVED miscrna ENSG00000164621 30586 09904 VALIDATED 1605403 SMA4 glucuronidase, beta pseudogene 5 5 q13.2 69550767 69557378 - 69434689 69586004 - 7240710 15489334;15372022;14702039;12477932;7977382;7894161 11039 AC108108;AC118459;AC138866;AC139494;AC139500;AC140134;AC146949;AK094021;AK097091;AK289832;AK315849;AMYH01015204;AMYH01015205;AMYH01015206;AMYH01015207;AMYH01015208;AMYH01015209;AMYH01015210;AMYH01015211;AMYH01015212;AMYH01015213;AMYH01015214;AMYH01015215;AMYH01015216;AMYH01015217;AMYH01015218;AMYH01015219;AMYH01015220;AMYH01015221;AMYH01015222;AMYH01015223;AMYH01015224;AMYH01015225;AMYH01015226;AMYH01015227;AMYH01015228;AMYH01015229;AMYH01015230;AMYH01015231;AMYH01015232;AMYH01015233;AMYH01015234;AMYH01015235;AMYH01015236;AMYH01015237;AMYH01015238;AMYH01015239;AMYH01015240;AMYH01015241;AMYH01015242;AMYH01015243;AMYH01015244;AMYH01015245;AMYH01015246;AMYH01015247;AMYH01015248;AMYH01015249;AMYH01015250;AMYH01015251;AMYH01015252;AMYH01015253;AMYH01015254;AMYH01015255;AMYH01015256;AMYH01015257;AMYH01015258;AMYH01015259;AMYH01015260;AMYH01015261;AMYH01015262;AMYH01015263;AMYH01015264;AMYH01015265;AMYH01015266;AMYH01015267;AMYH01015268;AMYH01015269;AMYH01015270;AMYH01015271;AMYH01015272;AMYH01015273;AMYH01015274;AMYH01015275;AMYH01015276;AMYH01015277;AMYH01015278;AMYH01015279;AMYH01015280;AMYH01015281;AMYH01015282;AMYH01015283;AMYH01015284;AMYH01015285;AMYH01015286;AMYH01015287;AMYH01015288;AMYH01015289;AMYH01015290;AMYH01015291;AMYH01015292;AMYH01015293;AMYH01015294;AMYH01015295;AMYH01015296;AMYH01015297;AMYH01015298;AMYH01015299;AMYH01015300;AMYH01015301;AMYH01015302;AMYH01015303;AMYH01015304;AMYH01015305;AMYH01015306;AMYH01015307;AMYH01015308;AMYH01015309;AMYH01015310;AMYH01015311;AMYH01015312;AMYH01015313;AMYH01015314;AMYH01015315;AMYH01015316;AMYH01015317;AMYH01015318;AMYH01015319;AMYH01015320;AMYH01015321;AMYH01015322;AMYH01015323;AMYH01015324;AMYH01015325;AMYH01015326;AMYH01015327;AMYH01015328;AMYH01015329;AMYH01015330;AMYH01015331;AMYH01015332;AMYH01015333;AMYH01015334;AMYH01015335;AMYH01015336;AMYH01015337;AMYH01015338;AMYH01015339;AMYH01015340;AMYH01015341;AMYH01015342;AMYH01015343;AMYH01015344;AMYH01015345;AMYH01015346;AMYH01015347;AMYH01015348;AMYH01015349;AMYH01015350;AMYH01015351;AMYH01015352;AMYH01015353;AMYH01015354;AMYH01015355;AMYH01015356;AMYH01015357;AMYH01015358;AMYH01015359;AMYH01015360;AMYH01015361;AMYH01015362;AMYH01015363;AMYH01015364;AMYH01015365;AMYH01015366;AMYH01015367;AMYH01015368;AMYH01015369;AMYH01015370;AMYH01015371;AMYH01015372;AMYH01015373;AMYH01015374;AMYH01015375;AMYH01015376;AMYH01015377;AMYH01015378;AMYH01015379;AMYH01015380;AMYH01015381;AMYH01015382;AMYH01015383;AMYH01015384;AMYH01015385;AMYH01015386;AMYH01015387;AMYH01015388;AMYH01015389;AMYH01015390;AMYH01015391;AMYH01015392;AMYH01015393;AMYH01015394;AMYH01015395;AMYH01015396;AMYH01015397;AMYH01015398;AMYH01015399;BC067830;BC131740;NR_024054;NR_029426;X75940;X83300 AAI40017;AAI40018;ABM82829;ABM84660;ABM86015;BAF82521;BAF98740;CAA58279 Hs.582500;Hs.652536;Hs.654588 1721607;5017352;5020885;5021872;5022578;5118506;5120506;7183868 D11S3374;D1S1423;D5F153S1;D5S1709;G59813;L17791;WI-19224;sY3084 FLJ36702;FLJ39772;MGC22265;MGC60382;SMA3;b55C20.2 pseudo 15404 253300;253400;253550;271150 VALIDATED 1353457 SMAD1 SMAD family member 1 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] 4 4 q31 146622401 146699778 + 146402951 146480328 + 1580077;1580863;1643224;1643228;1643229;1643233;1643234;1643235;1643222;1643227;2299978;6480464;6484113;6907045;7240710 16361357;17803470;16482100;16447265;15911698;15704675;15591053;17347486;17166487;17967875 22299030;20667911;21360446;11094085;17215250;17676934;19416967;22344298;22452883;22670624;22615489;22868198;11571290;9111321;8653785;10708949;19018011;15621726;9759503;8663601;9436979;17356069;10647776;11121043;19513897;19453261;19424179;19269967;19247629;19244313;19224917;19211612;19056927;18775991;18769113;18684712;18668566;18393632;18321803;18310319;18184649;17963781;17948051;17847004;17496924;17455258;17452325;17392271;17359969;17043655;16990609;16931515;16621789;16436528;16412560;16326713;16247476;15877825;15781469;15761153;15708501;15613244;15542835;15516492;15489854;15489334;15246821;15231748;14732718;14702039;14701756;14633973;14630787;14500836;12874272;12821673;12650946;12649288;12519765;12477932;12426322;12370310;12354674;12167862;12097147;11811554;11779505;11700304;11483516;11451566;11438941;11387330;11278251;11239394;11163184;11158580;11139569;11118211;11016919;10890911;10887155;10708948;10673036;10660046;10652350;10583507;10400705;10400677;10224145;10205054;10085121;9843199;9748228;9393997;9335505;9335504;9136927;9006934;8893010;8774881;8673135;8637600;9256479;10531362;10962029;10199400;12743038;12714599;10497242;12944489;20522807;12904571;15107829;15647271;16087734;17183365;17292623;19819941;19914168;19959123;19996292;9389648;20211142;20734064;20819778;21068203;20388715;20460105;14612411;15221015;16613856;16611643;20565840;20634891;21445358;12808092;15009097;15849193;18160706;18425117;17289590;20851880;21708152;21760921;23344957;14699069;21454478;21440420;21515822;22073863;21344387;20937913;21405981;21453705;21900206;21945631;22318606;19135894;21308777;21947082;22474288;22550179;12857866;22393057;15359284;17510966;19664780;19917253;21685363;17251190;22897816;21832049;22277251;18729074;22588298;18045539;21890473;23088614 4086 D6RAY1;D6RBH9;D6RD62;D6RDN7;D6REQ3;Q15797 ABBA01070030;ABBA01070031;ABBA01070032;ABBA01070033;ABBA01070034;AC093796;AK096624;AK293055;AL117396;AMYH01014595;BC001878;BE644607;BI772689;BI792941;BQ962660;BT007386;BU163870;CB956339;CH471056;HI961647;NM_001003688;NM_005900;U54826;U57456;U59423;U59912 AAB06852;AAC50493;AAC50621;AAC50790;AAH01878;AAP36050;ABM83436;ABM86650;BAF85744;CAB55898;CBY84968;EAX05037;EAX05038;EAX05039;EAX05040;NP_001003688;NP_005891;Q15797 Hs.604588 1673409;1697702;1699798;1708170;1756191;2176928;5114293;5115840 B327ZG1;D4S2549E;RH102368;RH103506;SHGC-143047;SHGC-79334;STS-Z39684;ksks229 BSP-1;BSP1;JV4-1;JV41;MADH1;MADR1 BSP-1;MAD homolog 1;MAD, mothers against decapentaplegic homolog 1;Mad-related protein 1;OTTHUMP00000220455;OTTHUMP00000220456;OTTHUMP00000221520;SMAD 1;SMAD, mothers against DPP homolog 1;TGF-beta signaling protein 1;hSMAD1;mothers against DPP homolog 1;mothers against decapentaplegic homolog 1;smad, mothers against dpp homolog 1 (drosophila);transforming growth factor-beta signaling protein 1;transforming growth factor-beta-signaling protein 1 APPROVED protein-coding 6767 03356 600794;601472;601595 REVIEWED 1347299 SMAD2 SMAD family member 2 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] 18 18 q21.1 43613464 43711510 - 45359466 45457517 - 1599906;1599900;1580863;1559169;2299974;2306282;2298922;2300007;2302517;2299962;2299970;2299973;2299967;2299968;2299964;2308865;6480464;6484113;6907045 16959941;10819637;12770730;10969799;17613544;12809600;11809701;18684975;16141389;12883738;11332076;14985451;12894231;15548366;18662538 18729074;16437159;11438668;9311995;9111321;8752209;8980228;17438144;9702198;9256479;9389648;19122240;19018011;14555988;9436979;9865696;11100470;10549282;19453261;19429239;19351817;19289081;19211612;19201832;19104148;19066393;18983975;18955504;18949743;18826955;18268325;18648910;18618014;18616749;18568018;18511908;18482992;18393632;18263591;18223258;18210139;18166170;18082619;17875924;17729405;17591701;17427197;17365852;17295676;17292826;17217620;17142261;17081983;17053951;17035229;16924420;16645187;16556868;16478646;16403803;16344560;16260601;16253118;16146757;16055724;16007227;15811425;15799969;15761153;15750622;15735739;15665291;15613484;15599395;15520018;15496141;15494412;15489854;15489334;15356634;15326485;15308665;15280432;15241418;15231748;15218362;15166010;15144564;15084259;15066998;14728725;14727154;14702039;14691252;14612439;14531804;12874272;12760775;12743038;12732139;12650946;12618756;12615364;12531695;12477932;12393416;12370310;12354674;12202987;12193595;12191474;12191473;12170265;12167862;12150994;12105419;12097320;12034739;12034730;12023901;12000714;11879191;11804592;11779503;11691834;11555647;11387330;11387212;11371641;11359933;11278756;11278302;11274206;11264182;11229886;11163184;11160896;11118211;11114293;11094085;11058129;11043574;11042172;11027280;11016919;10890911;10887155;10863401;10825365;10823886;10757800;10708949;10708948;10678166;10647776;10615055;10531362;10531062;10505717;10485843;10420150;10400677;10220381;10199400;10197981;9892009;9873005;9843199;9820171;9759503;9702197;9679056;9525694;9503010;9346908;9288972;9214507;9136927;9092546;9006934;8893010;8889549;8861901;8774881;8673135;8617505;16179804;11389444;18783722;12794086;12419246;11102446;10938097;9858566;16362038;12815042;12714599;12165866;12426322;15761148;10575014;14612425;10497242;10587642;20403362;21406405;22563507;22617150;22710166;20462450;14699069;21081648;17711623;15817471;18974875;19032343;20211142;20734064;21052639;21068203;12700238;15623506;15849193;18215124;18334480;19937272;16027725;20852387;20607798;19827952;20347004;21095583;20460105;12411310;12764135;12904571;14701756;15107821;15350224;15647271;16087734;16200078;16751101;16806156;17099224;17292623;17591695;17878231;17927854;19049980;19135894;19345189;19397700;19421146;19558215;19620243;19688145;19751112;19819941;19822523;19917253;19951945;20010874;20011542;20086175;20346360;20350217;20453000;9732876;20634891;22705205;21749466;12732634;12808092;15221015;16224064;16619037;21036908;21106222;10781087;11158580;20604712;20945383;21149449;15009097;18003620;20717921;21110833;21170261;19920136;22868198;22935165;16636667;18832382;20571128;21258410;21377836;21646355;16959829;17341133;21490324;20207742;20930144;20977504;21454478;21624123;21828274;16751102;21732483;15350225;15150278;17239842;19366699;22301403;21990365;22318606;22385658;10085121;10878024;11226163;12917407;19914168;20937913;20954112;20959473;21139048;21532621;21947082;21960005;22195013;22196728;22227581;15359284;19322201;19580641;21613609;22426647;22461896;17283070;23419524;22228025;16916642;12621041;22278155;22344298;23139211;12543979;14729983;15467747;16806069;19139564;19419955;21988832;23000965;23297089;23530056;23781096;23077590;15922743;19420158;20070253;21883378;22505724 4087 B7Z5N5;K7EJX0;K7EL92;K7ERC7;K7ESI8;Q15796;Q53XR6 AA081871;AA418737;ABBA01018626;ABBA01018627;AC120349;AF027964;AI087928;AI453799;AI765747;AK126373;AK299218;AK312963;AMYH01008978;AMYH01008979;AMYH01008980;AY134745;BC014840;BC025699;BI258844;BQ018815;BQ900993;BT007422;BU167620;BU517178;BX491944;CH471096;CR992221;DB035686;DB462454;DC371139;NG_029946;NM_001003652;NM_001135937;NM_005901;U59911;U65019;U68018;U78733 AAB17054;AAB17087;AAC39657;AAC50789;AAC51918;AAH14840;AAH25699;AAN08619;AAP36090;ABM82427;ABM84458;ABM84672;ABM85619;BAG35802;BAH12971;EAW62914;EAW62915;EAW62916;EAW62917;NP_001003652;NP_001129409;NP_005892;Q15796 Hs.12253;Hs.705764;Hs.741342 1654016;1657936;1673532;1679814;1765211;1796266;2126659;2138852;2158775;2160795;2169353;2174069;2183790;2190881;5015619;5022200 D11S3114;D18S1312;L18426;MADH2_1658;MARC_10275-10276:998924078:1;RH12141;RH17857;RH18445;RH47015;RH66619;RH69774;RH98251;SHGC-148706;SHGC-16176;SHGC-64255;WIAF-1471 JV18;JV18-1;MADH2;MADR2;MGC22139;MGC34440;hMAD-2;hSMAD2 MAD homolog 2;MAD, mothers against decapentaplegic homolog 2;Mad protein homolog;Mad-related protein 2;OTTHUMP00000163489;SMAD 2;SMAD, mothers against DPP homolog 2;Sma- and Mad-related protein 2;mother against DPP homolog 2;mothers against DPP homolog 2;mothers against decapentaplegic homolog 2;smad, mothers against dpp homolog 2 (drosophila) APPROVED protein-coding ENSG00000175387 6768 03221 601366 REVIEWED 6481280 SMAD9-AS1 SMAD9 antisense RNA 1 100874072 AL138706 APPROVED miscrna 39963 1343311 SMAD3 SMAD family member 3 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009] 15 15 q22.33 65145249 65274587 + 67358195 67487533 + 1599906;1599900;1559169;1625706;2306282;2300396;2298922;2299970;5490966;6480464;6484113;6907045 16959941;10819637;12770730;16891311;17613544;17908958;12809600;12883738;18772397 9311995;8774881;9111321;9732876;15799969;19122240;10823886;15107418;14555988;15334054;19018011;12411310;9865696;11100470;10549282;19468687;19453261;19394554;19351817;19336575;19289081;19265200;19263472;19255064;19252133;19247629;19218245;19211612;10587642;22615489;22617150;22710166;23139211;17875924;17786540;17657819;17653079;17638910;17634449;17623674;17591701;17591695;17476473;17471513;17279001;17230494;17197157;17142261;17074765;17053951;17035229;16924420;16886151;16849317;16828225;16785237;16754688;16556868;16543220;16528675;16449645;16413503;16403803;16344560;16253118;16223572;16187293;16156666;16007227;15917296;15907489;15881652;15845540;15798217;15761153;15750622;15735739;15665291;15629128;15623506;15527767;15520018;15494412;15489334;15464984;15356634;15326485;15308665;15247277;15241418;15240101;15231748;15198928;15166010;15150273;15144564;15138260;15084259;15066998;15051726;15044214;15001984;14966294;14727154;12524424;12483531;12477932;12393612;12393416;12370310;12270924;12226080;12202987;12191474;12167862;12165866;12161532;12161428;12154125;12150994;12099698;12097320;12023901;12000714;11804592;11711431;11707452;11691834;11590145;11555647;11438668;11432852;11427533;11387330;11387212;11359933;11280774;11278756;11278251;11274402;11163184;11118211;11114293;11094085;11058129;11042152;11027280;11016919;10995777;10973944;10962029;10942775;10903323;10890911;10878024;10846168;10757800;10708949;10708948;10681527;10647776;10601313;10557285;10531062;10518526;10497242;10400677;10220381;10197981;10085140;10037600;9858566;9843199;9759503;9753318;9741623;9665135;9464505;9380693;8889548;8673135;7958925;7958924;16750572;12202226;18495657;18172167;11389444;18950738;9892009;12794086;12419246;14691252;14657019;14651998;14647420;14638857;14633126;14630914;14623893;14612439;14557482;14531804;14525983;14512875;12939660;12917425;12917407;12902338;12857746;12847691;12815042;12760775;12759229;12758167;12743038;12732139;12718878;12650946;12631740;12618756;12615364;12551947;12543979;12531695;19129849;19106105;19101551;19066393;19064572;19013433;18955504;18826955;18794808;18791848;18776948;18768831;18729074;18568018;18505915;18482992;18445023;18393632;18384750;18333754;18263591;18250161;18245174;18223258;18210139;18203713;18174246;18174158;18166170;18095154;18082619;18078810;18055455;17994767;17934056;17920062;10531362;16362038;12874272;14988407;12714599;15561701;12426322;15688032;10575014;20222112;14699069;21150326;20607798;21081648;12764135;14729983;16806069;19419955;23530056;12446380;12904571;12963786;14603262;14701756;15350224;15647271;15897867;16200078;16751101;17099224;17264880;17292623;17469184;17474147;17927854;18095113;18832382;19041414;19049980;19135894;19345189;19375841;19421146;19458083;19461048;19589780;19595713;19616922;19620243;19693466;19751112;19768112;19819941;19822523;19917253;19951945;19959123;20010874;20037158;20070253;20093492;20097766;20142324;20346360;20379614;20463300;20506137;11306568;12700238;15849193;15990875;15994459;16890162;18215124;18339718;15496141;15781469;16876108;18974875;19032343;20211142;20599907;20734064;20738937;20819778;20860503;21068203;16027725;16247473;16285943;21095583;15221015;16423881;16619037;21102463;20739403;20547485;20102559;20634891;20694560;12732634;12808092;16224064;21042764;20427289;20602465;11158580;20945383;15009097;15133024;18003620;21159608;21217753;17251190;19139564;23585475;23747528;23781096;22576977;21345218;20564330;20571128;21258410;21377836;20736297;21114847;20207742;20930144;21625455;21646355;12686552;21307346;21778426;16959829;17341133;10092624;19920136;22927969;21624123;18268325;21749466;21832049;21828274;21896644;21965288;21310903;21986102;22382019;20360068;21947082;22045334;16751102;15150278;21862595;21990365;22318606;22385658;22927430;22034170;22161558;19914168;19953087;21139048;21532621;21960005;22110135;22195013;22196728;22227581;22241478;9679056;12228247;20553715;23362262;21924870;22167769;15359284;16061479;21685363;21798735;21829441;21835029;22020340;22310290;22251470;22232600;17283070;20301312;21057546;22878587;23179147;20301299;22228025;22782721;22278155;22344298;22633655;23419524;15467747;21988832;23000965;23056222;22778267;15922743;16714330;16777850;18417583;19420158;19758997;19875456;21883378;22921829;22820497;23128233;23291589;11486006;16636667;23022526 4088 H0YKE2;H0YL71;H0YMP2;H0YMY0;H0YNV1;H3BP09;H3BQ00;H3BVD1;O14510;Q9P0T0 AA493306;AB004930;AB209616;ABBA01038804;ABBA01038805;AC012568;AC087482;AF025300;AF151027;AI762628;AI991957;AK026690;AK290881;AK298139;AK300614;AK301348;AK313812;AK316017;AL110265;AMYH01006729;AMYH01006730;AMYH01006731;BC000414;BC007496;BC050743;BE905995;BF058230;BG251847;BM551682;BM722372;BQ917888;BX506233;CH471082;CR457386;CR749287;DA453132;DA755047;DA977882;NG_011990;NM_001145102;NM_001145103;NM_001145104;NM_005902;U68019;U76622 AAB18967;AAB80960;AAF36113;AAH50743;AAL68976;ABZ92016;BAA22032;BAD92853;BAF83570;BAG36548;BAH12731;BAH13315;BAH13461;BAH14388;CAG33667;CAH18142;EAW77788;EAW77789;EAW77790;EAW77791;NP_001138574;NP_001138575;NP_001138576;NP_005893;P84022 Hs.727986;Hs.742270 1729047;1783302;1797834;1846779;1852770;1858460;2129805;2138026;2167175;2167177;2177720;2182257;5020327 A005A06;A008T12;G19273;G20255;MADH3_2337;Madh3;RH44526;RH47017;RH47448;SHGC-33628;SHGC-79498;STS-AA026105;STS-U68019 DKFZp586N0721;DKFZp686J10186;HSPC193;HsT17436;JV15-2;LDS1C;LDS3;MADH3;MGC60396 MAD homolog 3;MAD, mothers against decapentaplegic homolog 3;OTTHUMP00000164305;SMA- and MAD-related protein 3;SMAD, mothers against DPP homolog 3;hMAD-3;hSMAD3;mad homolog JV15-2;mad protein homolog;mad3;mothers against DPP homolog 3;mothers against decapentaplegic homolog 3;smad, mothers against dpp homolog 3 (drosophila) APPROVED protein-coding ENSG00000166949 6769 04380;08533 603109;613795 REVIEWED 1312880 SMAD6 SMAD family member 6 The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009] 15 15 q21-q22 64781688 64861380 + 66994674 67074338 + 1580863;724455;2300008;2289036;1643222;2315074;6480464;6484113;6907045 11920662;11078792;17437042;17347486;11170839 9256479;9436979;16299379;19047146;16886151;19018011;19277452;19211612;19032685;18445023;17934461;17931948;17850776;17359969;16951688;16687405;16601693;16373339;16249187;15736400;15716278;15665522;15621726;15529348;15489334;15146197;15033458;14657019;22275001;22223368;14645520;12477932;12407115;12397035;11737269;11483516;11278251;10757800;10748100;10722652;10708949;10708948;10655064;10647776;9759503;9712726;8673135;16282533;12118366;12815042;20462450;15496141;15817471;20734064;15221015;20658468;12782279;15231748;15761153;19688145;19959123;9335505;16491121;20514018;12857866;21576367;21791611;21897371;21900206;22589738;23455153;21984931;15359284;19322201;17676934;21145461;22705548;23284751;19758997;20663871 4091 H0YK80;H0YM33;O43541 ABBA01038807;ABBA01038808;AC013564;AC110048;AF035528;AF037469;AF041065;AF043640;AF101474;AM909653;AMYH01006727;BC012986;BC029288;BC052569;BU154759;CA406301;CB055216;CH471082;CN314453;CN314455;NG_012244;NM_001142861;NM_005585;NR_027654;U59914 AAB94137;AAC00497;AAC50792;AAC82331;AAF06841;AAF14343;AAH12986;CAP20377;EAW77784;EAW77785;EAW77786;NP_001136333;NP_005576;O43541 Hs.153863 1645653;1645712;1654001;1763033;1764057;1778067;2113856;2181720;5016014 39078501;AB071130;CHLC.GGAA28H03;D15S1301;RH15748;RH47721;RH70683;SHGC-146780;SHGC-147716 AOVD2;HsT17432;MADH6;MADH7 MAD homolog 6;Mothers against decapentaplegic, drosophila, homolog of, 6;OTTHUMP00000164291;SMAD 6;SMAD, mothers against DPP homolog 6;hSMAD6;mothers against DPP homolog 6;mothers against decapentaplegic homolog 6;smad, mothers against dpp homolog 6 (drosophila) APPROVED protein-coding ENSG00000137834 6772 04240 602931;614823 REVIEWED 1349958 SMAD5 SMAD family member 5 The protein encoded by this gene is involved in the TGF-beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by BMP type 1 receptor kinase. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 q31 135496435 135546321 + 135468536 135518422 + 1580755;1580077;1580863;2299978;6480464;6484113;6907045 9264367;16361357;17967875 12060751;9748228;8673135;10708949;19018011;15621726;9759503;9436979;17356069;11121043;19269967;19247629;19211612;18775991;18684712;18393632;18310319;18298822;17847004;17359969;17081983;16436528;16247476;16243555;15877825;15489334;15246821;15231748;15107829;14702039;14670176;12849988;12649288;12477932;12473652;12370310;12064918;11451570;11451566;11278410;11278251;11163184;10708948;10652350;10647776;10583507;10504300;10400677;10049768;16516194;17133595;17676934;22452883;22670624;9484787;9442019;9288787;18641638;10531362;12714599;15647271;16087734;19244313;19819941;20522807;17207965;20734064;20148926;15009097;15221015;16613856;18425117;14699069;21454478;22939629;12857866;20484049;21900206;21945631;21139048;19914168;22013049;19322201;17251190;18729074;22505724;22966907;21890473;22897816;23455153 4090 D6R9D4;D6RBB4;D6RIZ9;F5GWU7;H0YAK7;H0YAM3;Q68DB7;Q99717 ABBA01068719;AC009014;AF009678;AF009744;AF009745;AF010601;AF010607;AF071106;AF071107;AF071108;AF071109;AF071110;AK001036;AK055211;AK311231;AK313397;AMYH01015630;BC009682;BK001394;BX510058;BX646699;BX648328;CH471062;CR457424;CR749366;CR749473;NG_032037;NM_001001419;NM_001001420;NM_005903;U59913;U73825 AAB66353;AAB72180;AAB82655;AAB92396;AAB95090;AAC50791;AAD20799;AAD20800;AAD20801;AAD20802;AAD20803;AAH09682;ADQ32752;BAG36195;CAG33705;CAH18219;CAH18303;EAW62194;EAW62195;EAW62196;NP_001001419;NP_001001420;NP_005894;Q99717 Hs.167700 1654007;1780654;1797836;1848205;2113632;2118787;2138375;2158549;2169081;5024756;5093334;5094945 A009L33;G32658;MADH5_2355;RH17543;RH44658;RH65479;RH80030;SGC34305;SMAD5;UniSTS:478946;WIAF-2102;bac51515S DKFZp781C1895;DKFZp781O1323;Dwfc;JV5-1;MADH5 MAD homolog 5;MAD, mothers against decapentaplegic homolog 5;OTTHUMP00000223331;SMA- and MAD-related protein 5;SMAD 5;SMAD, mothers against DPP homolog 5;hSmad5;mothers against DPP homolog 5;mothers against decapentaplegic homolog 5;mothers against decapentaplegic, drosophila, homolog of, 5;smad, mothers against dpp homolog 5 (drosophila) APPROVED protein-coding ENSG00000113658 6771 04381 603110 REVIEWED 1352527 SMAD4 SMAD family member 4 This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009] 18 18 q21.1 46810611 46860145 + 48556583 48611412 + 734492;1599906;1599898;1599899;1599900;1580863;2299975;2299968;2299976;2299980;2300007;2306282;2298922;2300005;2299979;2299972;2299973;2300009;2299981;2299966;2308865;5490966;5490965;6480464;6484113;6907045;7240710 8553070;16959941;9582123;11920286;10819637;10706106;12894231;10451707;16859125;11809701;17613544;12809600;15017584;16951150;11783019;11332076;10331746;15042598;15385128;18662538;18772397;19506583 20581473;8774881;9111321;9311995;9732876;17438144;9389648;15621726;10823886;9707553;12411310;10549282;11121043;19527492;19453261;19351817;19321257;19284991;19273710;19270816;19270646;19247629;19211612;19144825;19064568;18985820;18949401;18823382;18664273;18620728;18568018;18519681;18519565;18505344;18471510;18425078;18413775;18321803;18310088;18310076;18213629;18178612;17997817;17994767;17875924;17873119;17854080;17847004;17659731;17643425;17591695;17478078;17476473;17469085;17436386;17390050;17353364;17301079;17200344;17167985;17151782;17132729;17053951;17043799;17023741;17016646;16959612;16953227;16754688;16627986;16613914;16478646;16436638;16344560;16288847;16223572;16189514;16172383;16146757;16135802;16082587;16007227;15940269;15886208;15881652;15867212;15855639;15846069;15817471;15814640;15799969;15761153;15736060;15735739;15708501;15637079;15592526;15531914;15489334;15367885;15280432;15240101;15235019;15231748;15173084;15166010;15157044;15107966;15084259;15069531;15063137;15033661;15031030;15028714;22316667;15014009;14988407;14966294;14766211;14727154;14715079;14701756;14691252;14671321;14669329;14647445;14647410;14639103;14633973;14630914;14630787;14612439;14607700;14557482;14555988;14525983;14514699;12952364;12917407;12857746;12813045;12802277;12801888;12794086;12758167;12740389;12720172;12700666;12650946;12631740;12629129;12621041;12618756;12576474;12569386;12551947;12548549;12543979;12531695;12524424;12477932;12429655;12419246;12417513;12414627;12374795;12370310;12226080;12209716;12202987;12202226;12191474;12167862;12150994;12136244;12116240;12099698;12097320;12077092;12023040;12010891;12000714;11866987;11836524;11818334;11783110;11741830;11700304;11571638;11555647;11432852;11387330;11278302;11274206;11265759;11224571;11163184;11160896;11114293;11042172;11027280;10995777;10980615;10942775;10896788;10890911;10887155;10878024;10871368;10708949;10708948;10660046;10647776;11401430;10647180;10636916;10557285;10531062;10400705;22266936;10398437;21709185;10224145;10220381;10085140;9892009;9843571;9843199;9811934;9759503;9741623;9679056;9288972;9285560;9214508;9098646;8889548;8653691;8564959;7958925;7958924;18783722;11264182;11102446;10531362;10199400;9256479;11278756;12874272;16362038;10583507;10846168;12483531;12815042;15561701;10575014;15592428;15820681;20667911;11094085;14993265;16516194;17583730;22278155;22344298;22321641;22351431;22585601;21412070;21330551;21352803;20682989;19538865;20565773;14699069;20685810;21245094;14612411;15314162;20734429;20862427;21112326;20797318;20012971;16865698;20404275;19032343;20211142;20235236;20682711;20734064;21036691;21068203;20577838;21095583;12161428;12904571;15350224;15781469;17099224;17469184;18029348;19135894;19266212;19328798;19341727;19463221;19548527;19558215;19584151;19626374;19686287;19688145;19690946;19730683;19752858;19834456;19841536;19856310;19916025;19996292;20101697;20118412;20142324;20165854;20200332;20237276;20307265;20346360;20350217;8861901;9482899;9660945;20622003;19183329;19913121;20473902;20628086;20634891;12732634;12808092;20301642;20885978;10781087;21289291;15849193;18215124;21105199;21263249;21289624;17591701;22710759;22860091;18832382;19624886;20564330;21540640;21726607;21898662;22024061;21294585;21597466;10092624;23018642;23154409;23221074;21492476;21782795;20959473;21945631;21791112;22109972;22115830;10085121;21705453;21947082;21152044;21421563;21454478;21465659;21726812;16751102;22002709;22045334;19366699;22301403;22318606;22504380;22377565;22821565;21139048;21532621;21890473;22158539;23362281;23399955;23788427;22020746;22033265;22028478;22130069;22243968;21968601;22658931;17283070;20301525;22314103;22461896;15359284;16009940;19528490;19917253;21126430;21259057;21835029;21964812;22209340;22310290;22689943;16916642;17190602;17251190;19768112;23139211;23344532;17183365;19139564;23298711;15467747;21988832;22331366;23000965;12764135;14729983;19419955;23207623;23226455;23538390;23239472;22674574;15922743;16714330;16777850;18729074;19420158;22505724;22617360;22965423;23047509;9436979;22748914 4089 K7EIJ2;K7EIU8;K7EL15;K7EL18;K7ELK2;K7ENG1;K7ENG8;K7ES96;L7N2F7;Q13485 AB043547;ABBA01018682;ABBA01018683;ABBA01018684;AC091551;AF045447;AK290770;AMYH01009000;AU120224;BC002379;BM701399;BX647129;CH471096;NG_013013;NM_005359;U44378 AAA91041;AAC03051;AAH02379;ABM82766;ABM85954;BAB40977;BAF83459;EAW62985;EAW62986;EAW62987;NP_005350;Q13485 Hs.75862 1335625;1668407;1683531;1711380;1734548;1769903;1778479;1794972;1796268;2153868;2181336;5037552 AF010230;D18S1110;D18S903E;D8S2279;MADH4_174;PMC86557P1;RH44980;RH46461;RH66749;RH75869;SHGC-56739;WI-11075 DPC4;JIP;MADH4;MYHRS MAD homolog 4;MAD, mothers against decapentaplegic homolog 4;OTTHUMP00000163548;SMAD 4;SMAD, mothers against DPP homolog 4;deleted in pancreatic carcinoma locus 4;deletion target in pancreatic carcinoma 4;hSMAD4;mothers against DPP homolog 4;mothers against decapentaplegic homolog 4;mothers against decapentaplegic, Drosophila, homolog of, 4;smad, mothers against dpp homolog 4 (drosophila) APPROVED protein-coding ENSG00000141646 6770 02995 139210;174900;175050;600993 REVIEWED 1344957 SMAD7 SMAD family member 7 The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 18 18 q21.1 44700221 44731079 - 46446223 46477081 - 1579878;1580863;2299963;2298922;2300008;2315074;2308865;6480464;6484113;6907045;7240710 14722617;15661223;12809600;11078792;11170839;18662538 15632190;12408818;21054221;17704440;17657819;17510063;17377371;17332363;17230494;17172861;17009056;16718778;16714330;16641086;16601693;16442497;16288847;16285943;16260615;16187293;16007121;15922743;15877825;15831498;15811853;15811425;15788410;15761153;15736400;15708859;15684397;9256479;16720724;18593713;17438144;11278251;19018011;18762808;18952608;9436979;19505925;19395656;19357349;19352540;19288000;19192480;19032343;18684712;18616749;18445023;18372905;18372901;18231913;18163503;18041647;17934461;17931948;17928287;15621726;15579469;15529348;15498852;15489334;15231748;15221015;15132952;15128733;15075243;15033661;15033458;15023526;14993265;14988821;14728725;14718519;14657019;14557482;12952364;12947087;12815042;12650946;12589052;12519765;12477932;12407115;12397035;12202987;12151385;12118366;12023024;11904440;11737269;11483516;11163210;10887185;10823886;10757800;10708949;10708948;10647776;9786930;9759503;9730599;9335507;9215638;16179804;18448069;15148321;9892009;16362038;15820682;22496417;16061177;22344298;20416076;20658468;16027725;15342556;16344560;19341727;19562778;19693466;19730683;19758997;19843678;19875456;19878580;19885573;20040761;20124488;20165854;20200978;20354004;20437058;20501757;20514018;20551054;15496141;15817471;15946939;18029348;20734064;20819778;21071539;21075068;16690609;20738806;20663871;20530476;20638935;20648012;20659471;15831516;18683731;20863724;23104301;23455153;22876112;17314099;19624886;21258410;21445336;17098745;23049692;22232431;21931165;20937913;21791611;22033246;21221812;19861282;21910156;22229264;22318606;22457752;22286770;23258148;22028324;21883230;22624557;23435373;23747528;23781096;21761138;21900845;15359284;21795712;22773947;22841502;17384642;23255602;23034881;23390194;23244128;23530056;23064961;23128233;23266556;22641218;22921829;23027871 4092 B3KYA8;K7EKF0;O15105 ABBA01018639;AC114684;AF010193;AF015261;AF026559;AF156731;AK131394;AK301535;AMYH01008984;BC074818;BC074819;BP363832;CH471096;DA882147;NG_023330;NM_001190821;NM_001190822;NM_001190823;NM_005904 AAB81246;AAB81354;AAH74818;AAH74819;AAL68977;BAG54770;BAH13509;EAW62931;NP_001177750;NP_001177751;NP_001177752;NP_005895;O15105 Hs.465087 1763619;1765387;1793052;1793054;5492074 PMC193708P1;PMC193708P2;SHGC-147306;SHGC-148875;Smad7 CRCS3;FLJ16482;MADH7;MADH8 MAD (mothers against decapentaplegic, Drosophila) homolog 7;MAD homolog 7;MAD homolog 8;MAD, mothers against decapentaplegic homolog 7;Mothers against decapentaplegic, drosophila, homolog of, 7;OTTHUMP00000163490;SMAD 7;SMAD, mothers against DPP homolog 7;hSMAD7;mothers against DPP homolog 7;mothers against DPP homolog 8;mothers against decapentaplegic homolog 7;mothers against decapentaplegic homolog 8;smad, mothers against dpp homolog 7 (drosophila) APPROVED protein-coding ENSG00000101665 6773 04241 602932;612229 REVIEWED 1350114 SMAD9 SMAD family member 9 The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] 13 13 q12-q14 36320321 36351966 - 37418968 37494409 - 1580077;1580863;2299981;1643222;6480464;6484113;6907045;7240710 16361357;15042598;17347486 19018011;15621726;9436979;17356069;9256479;11121043;19269967;18775991;17081983;15489334;12477932;10708949;10708948;10647776;10583507;9759503;9205116;11163184;16189514;22452883;18425117;15146197;15231748;15542835;19211612;19244313;20379614;15009097;23022380;22318606;21890473;22897816;23455924;22707059 4093 O15198 ABBA01021352;ABBA01021353;AK311686;AK314920;AL138706;AMYH01005040;AW191604;BC011559;BC067766;BC104760;BC104762;BC143240;BC143256;CH471075;CN291481;D83760;D83761;DB501041;NG_016963;NM_001127217;NM_005905 AAH11559;AAI04761;AAI04763;AAI43241;ABZ92389;ACE86732;ACE87418;BAA21128;BAA21129;EAX08570;EAX08571;EAX08572;EAX08573;NP_001120689;NP_005896;O15198 Hs.123119 1690210;1797838;5015619;5022200;5022450;5037552 D10S275;D11S3114;D8S2279;L18426;MADH9_1987.3;RH92948 MADH6;MADH9;PPH2;SMAD8;SMAD8A;SMAD8B MAD homolog 9;Mothers against decapentaplegic, drosophila, homolog of, 9;OTTHUMP00000018262;OTTHUMP00000178565;SMAD, mothers against DPP homolog 9;mothers against decapentaplegic homolog 9;smad, mothers against dpp homolog 9 (drosophila) APPROVED protein-coding ENSG00000120693 6774 178600;603295;615342 REVIEWED 1607014 SMAGP small cell adhesion glycoprotein 12 12 12 q13.13 50440592 50465681 - 49925400 49950469 - 51639133 51664202 - 6480464 15986429;15021913;14702039;12477932;18029348;21906983;22505724 57228 O95332;Q0VAQ4 ABBA01031607;ABBA01031608;ABBA01031609;AC046135;AC139768;AF091087;AK001839;AMYH01004463;BC001400;BC003379;BC008712;BC045658;BC120965;BC120966;BG740791;CA776511;CH471111;CR456943;NM_001031628;NM_001033873 AAC72956;AAH03379;AAH08712;AAI20966;AAI20967;CAG33224;EAW58183;EAW58184;EAW58185;NP_001026798;NP_001029045;Q0VAQ4 Hs.652389 1685766;1760775;1770115;2171187;2171189;5037552 A006B21;D12S1951;D8S2279;G20676;RH94292;SHGC-144292 MGC149453;MGC149454;hSMAGP small cell adhesion glycoprotein;small cell transmembrane and glycosylated protein;small trans-membrane and glycosylated protein;small transmembrane and glycosylated protein APPROVED protein-coding ENSG00000170545 26918 14256 VALIDATED 7248533 SMARCA5-AS1 SMARCA5 antisense RNA 1 100128055 ABBA01070003;AC104685;AK307172;AMYH01014583;HY014185;NR_104027;XR_109838;XR_112686;XR_171470 Hs.707570 miscrna ENSG00000245112 39982 VALIDATED 1601981 SMAP2 small ArfGAP2 1 1 1 p35.3-p34.1 39122094 39171384 + 40612315 40661581 + 40839378 40888998 + 6480464;6907045;7240710 17207965;16710414;16571680;15489334;12477932;18029348;20831471;16344560;21147065;21139048 64744 Q9UJL8 ABBA01023176;AK294675;AK298702;AK303975;AK308280;AK313105;AK316218;AL031985;AL133206;AL137764;AMYH01000537;BC014512;BC021133;BU617889;CH471059;DA082592;DC411665;NM_001198978;NM_001198979;NM_001198980;NM_022733 AAH14512;AAH21133;ADQ32236;BAG35928;BAH11845;BAH12851;BAH14088;BAH14589;CAB61580;CAB70912;EAX07220;EAX07221;EAX07222;NP_001185907;NP_001185908;NP_001185909;NP_073570;Q8WU79 Hs.15200;Hs.602551 1648079;1680319;2176675 RH16606;RH66079;SHGC-33564 RP1-228H13.3;SMAP1L OTTHUMP00000008376;OTTHUMP00000008377;OTTHUMP00000008378;stromal membrane-associated GTPase-activating protein 2;stromal membrane-associated protein 1-like;stromal membrane-associated protein 2 protein-coding ENSG00000084070 25082 12442 125400 VALIDATED 1347252 SMAP1 small ArfGAP 1 The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 q13 71765844 71960082 + 71434200 71628439 + 71377479 71571718 + 6480464;6907045 16273301;15761153;15659652;15489334;14702039;14574404;12477932;12119110;9644265;8125298;17353931;21832049;21139048;21890473;16344560;23000965 60682 E7ETU6;H0Y5G0;Q5T6I8;Q8IYB5 ABBA01040270;ABBA01040271;AF442495;AK023221;AK074340;AK124239;AK222711;AK290448;AK303387;AK307807;AK315579;AL121961;AL354943;AL591049;AL833906;AMYH01016416;AMYH01016417;AY055003;AY055004;AY055015;BC008672;BC028074;BC036123;CH471051;DA527013;DB480952;NM_001044305;NM_001281439;NM_001281440;NM_021940 AAH08672;AAH28074;AAH36123;AAL14714;AAL14715;AAL14716;AAL14717;AAP97320;BAB14473;BAD96431;BAF83137;BAG37952;BAG64443;CAD38762;EAW48805;EAW48806;EAW48807;EAW48808;EAW48809;NP_001037770;NP_001268368;NP_001268369;NP_068759;Q8IYB5 Hs.485717 1340495;1661027;1673583;1689113;1712931;1739949;1759147;1789040;1853331;1855891;2119078;2136715;2138387;2140889;7187502 A003B38;D20S768;D6S1180E.1;D6S1220E;D6S1413;D6S455;G65654;RH120555;RH15822;RH18293;RH75302;SHGC-150607;SHGC-30828;WI-13200 FLJ13159;FLJ42245;SMAP-1 OTTHUMP00000016707;OTTHUMP00000016708;OTTHUMP00000016709;stromal membrane-associated GTPase-activating protein 1;stromal membrane-associated protein 1 APPROVED protein-coding ENSG00000112305 19651 18072 611372 REVIEWED 1350342 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 This gene encodes a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q25 128408159 128485122 - 128580478 128657460 - 1580863;6480464 14609955;1408766;18302774;18243132;18029348;16740656;15772651;15640247;15489334;15347669;15310751;14702039;12477932;12112843;11980720;17846119;16728976;19996304;18922045;22939629;21118156;21738833;21628590;21653943;22508985;21139048;21890473;21906983;22233809;22952844 6594 F6TQG2;P28370;Q86UA8 ABBA01047799;ABBA01047800;ABBA01047801;ABBA01047802;ABBA01047803;ABBA01047804;ABBA01047805;AK026426;AK123541;AL022577;AL138745;AMYH01022962;AW614102;BC051825;BC117447;BC143954;BC143955;BQ006393;BX647934;CH471107;EU636009;M89907;NG_012526;NM_003069;NM_139035 AAA80560;AAH51825;AAI17448;AAI43955;ACF37172;EAX11833;EAX11834;EAX11835;EAX11836;NP_003060;NP_620604;P28370 Hs.152292 2141165;2164098;2190975;2218034 L77638;L78006;MARC_12207-12208:1004716010:1;SMARCA1_3299 DKFZp686D1623;FLJ41547;ISWI;NURF140;SNF2L;SNF2L1;SNF2LB;SNF2LT;SWI;SWI2 ATP-dependent helicase SMARCA1;OTTHUMP00000023982;OTTHUMP00000023983;OTTHUMP00000023984;SNF2-like 1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1;global transcription activator homologous sequence;nucleosome-remodeling factor subunit SNF2L;probable global transcription activator SNF2L1;sucrose nonfermenting 2-like protein 1 APPROVED protein-coding ENSG00000102038 11097 02055 300012 REVIEWED 1348339 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jul 2008] 9 9 p22.3 2005342 2183624 + 2015342 2193624 + 1580863;2302527;6480464 17075831 17938176;8223438;8895581;12200431;12437990;14701856;15696166;16341228;11078522;8670841;19488910;19371634;19183483;19144648;18923443;18660489;18082132;18042045;18006815;17546055;17081983;16916647;16749937;16097034;15302935;15240517;15075294;14718574;14702039;14657023;14603256;12757710;12620226;12566296;12493776;12477932;12065415;12044884;11850427;11734557;11719516;11262242;11175787;11134956;10938115;10910076;10078207;10072425;9710619;9099865;8804307;8208605;8012116;7565614;16601680;11238380;11839798;10619021;9891079;15034933;20457675;16565076;16940996;19363039;19615732;19784067;20011120;20333683;20379614;9128241;16877760;16932743;17043312;17074803;18029348;19525936;19759913;19762545;21070662;14559996;16452305;20719309;20460684;20224553;21262773;21189327;15141164;9744861;17257825;17261582;17984088;11274403;12453419;15314177;15347669;16230384;18487222;21079652;23275444;21646426;20093853;11318604;20562864;22939629;23163725;23667531;21092585;22242598;22334708;22586326;19596686;20360068;21555454;21566081;21890473;21906983;15140983;22439931;23000965;23088494;23276717;19471022;20305087;22366787;21638299;22721696;15207703;23453885;15774904;19726504;22505724;22944692 6595 B1ALF6;B1ALG1;B1ALG2;B1ALG5;F6QYQ1;F6RS74;F6UH26;F6VDE0;F6XDY1;F6XE55;F6XG14;P51531;Q56A76;Q8N9Q1 ABBA01065443;ABBA01065444;ABBA01065445;AK094076;AK296373;AK298045;AK299683;AK300093;AK308941;AL138755;AL359076;AL558829;AMYH01019189;AMYH01019190;AY293824;BC040029;BC068252;BM921013;CH471071;NG_032162;NM_003070;NM_139045;U92832;X72889 AAB68685;AAH40029;AAI56186;BAC04280;BAG59047;BAG60343;BAG61590;BAG61895;CAA51407;EAW58811;EAW58812;EAW58813;EAW58814;EAW58815;NP_003061;NP_620614;P51531 Hs.298990 1661730;1729904;1758391;1774677;1787654;1793872;1854435;2108935;2143977 D9S143;D9S2065;G17342;PMC303366P11;SHGC-12004;SHGC-148225;SHGC-156097;SMARCA2_2377.2;WI-19184 BAF190;BRM;FLJ36757;MGC74511;NCBRS;SNF2;SNF2L2;SNF2LA;SWI2;Sth1p;hBRM;hSNF2a ATP-dependent helicase SMARCA2;BAF190B;BRG1-associated factor 190B;OTTHUMP00000020970;OTTHUMP00000020971;SNF2-alpha;SNF2-like 2;SNF2/SWI2-like protein 2;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2;global transcription activator homologous sequence;probable global transcription activator SNF2L2;protein brahma homolog;sucrose nonfermenting 2-like protein 2 APPROVED protein-coding ENSG00000080503 11098 02483 600014;601358 REVIEWED 1348890 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] 19 19 p13.2 10932606 11033953 + 11071598 11172958 + 1580863;2302032;2302526;2302527;2302528;5147892;6480464;7240710 16793760;15287030;17075831;12684665;11306337 17938176;8232556;8208605;17582821;12917342;11950834;10943845;19149898;21520050;11078522;19448667;19342595;19220418;19183483;19144648;19066270;18660489;18508648;18500344;18386774;18345028;18239461;18086889;18042045;18003620;17726060;17723105;17672918;17599918;17468105;17393431;17317669;17274598;17182572;17081983;17081121;17043312;17023429;16923960;16824695;16800816;16730941;16537901;16513088;16195385;16051670;15999204;15985610;15887247;15781111;15731117;15635413;15616580;15347669;15317818;15302935;15286705;15240517;15231747;15207703;15141164;15075294;15057824;14990991;14743216;14702039;14701856;14676191;14603256;14555651;14530259;12889071;12637547;12620226;12612078;12566296;12493776;12477932;12411497;12368262;12244326;12200431;12192000;12154023;12077331;12065415;12044884;11988099;11953317;11937040;11839798;11805098;11779498;11734557;11726552;11719516;11532957;11486022;11445556;11414763;11108719;11085541;11003650;10944117;10619021;10204490;10078207;9891079;9845365;9590696;9443979;9222609;9099865;8895581;8856972;8670841;7923370;7739891;16687403;11238380;11371506;11784859;11018012;11013263;17353931;10688647;14499622;15034933;14966121;14530271;15035981;15780937;20628086;20810930;20506188;19081374;20697355;14729568;17387179;17666433;17878164;21284845;16565076;16675956;16940996;17148452;17643375;19198609;19740755;19784067;19805516;19901545;19913121;20011120;20137775;20164218;20195544;20333683;9128241;16893449;16932743;17011493;17074803;18809673;19525936;19762545;20418909;14559996;14673171;16322236;16424906;16452305;16552721;19061646;19371634;19454010;20086098;20829883;20969766;20596014;12192045;16217013;16230384;16252006;16287714;18487222;21102582;21347282;21378990;15485920;15774904;15870273;15882967;16024661;18414052;20491765;10778858;11003653;15150092;15170388;9584200;9744861;21079652;23275444;20460684;21360626;20224553;20353823;20571081;18816825;8804307;21317927;21555518;21683060;16147992;21118156;20508149;20951943;23276717;23076834;23163725;21092585;20129940;20562864;22939629;23022380;20130577;20360068;21900401;16751102;18451880;19596686;21795385;18303029;22068056;22192413;22242598;22285184;22334708;22403242;22573825;22586326;22668559;23088494;21139048;21532573;21549307;21555454;21693764;21730156;21890473;21906983;22196727;21940037;21963585;22362300;22363625;22407764;22408259;22425674;22426308;21252943;21300803;19471022;20305087;22162999;21670149;21699904;22262178;22563078;21145461;22721696;22814607;23082233;23339192;23438604;15140983;22751105;23000965;23392668;23349796;23698369;12434308;16469706;19716452;20599239;22505724 6597 A7E2E1;B3KNW7;H0YGM3;K7EP28;K7EQF0;P51532;Q9HBD4 AB209313;ABBA01029877;ABBA01029878;ABBA01029879;ABBA01029880;ABBA01029881;ABBA01029882;ABBA01029883;AC006127;AC011442;AC011485;AF254822;AI695800;AK026573;AK055168;AK097105;AK290033;AK299761;AK303352;AK308763;AMYH01009481;BC007302;BC035916;BC136644;BC139917;BC139924;BC150298;BG396607;BQ009907;CH471106;CT005139;D26156;EU430756;EU430757;EU430758;EU430759;NG_011556;NM_001128844;NM_001128845;NM_001128846;NM_001128847;NM_001128848;NM_001128849;NM_003072;U29175 AAB40977;AAC97986;AAC97987;AAG24789;AAG24790;AAI36645;AAI39918;AAI39925;AAI50299;AAI51850;ACA09750;ACA09751;ACA09752;ACA09753;BAA05143;BAD92550;BAF82722;BAG51479;BAG61650;BAG64413;EAW84162;EAW84163;EAW84164;EAW84165;EAW84166;EAW84167;NP_001122316;NP_001122317;NP_001122318;NP_001122319;NP_001122320;NP_001122321;NP_003063;P51532 Hs.327527 1672008;1768119;1778097;1783796 D19S1111;D19S991;SHGC-144512;WI-18794 BAF190;BAF190A;BRG1;FLJ39786;MRD16;RTPS2;SNF2;SNF2-BETA;SNF2L4;SNF2LB;SWI2;hSNF2b ATP-dependent helicase SMARCA4;BAF190A;BRG1-associated factor 190A;BRM/SWI2-related gene 1;OTTHUMP00000240631;OTTHUMP00000240632;OTTHUMP00000240633;OTTHUMP00000240634;OTTHUMP00000240635;SNF2-beta;SNF2-like 4;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4;brahma protein-like 1;global transcription activator homologous sequence;homeotic gene regulator;mitotic growth and transcription activator;nuclear protein GRB1;protein BRG-1;protein brahma homolog 1;sucrose nonfermenting-like 4;transcription activator BRG1 APPROVED protein-coding ENSG00000127616 11100 04459 603254;613325;614609 REVIEWED 1320088 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 4 4 4 q22-q23 92425422 92509567 + 95348217 95431466 + 95128759 95212443 + 1580756;1580863;6480464 11031099 18675275;17081983;16344560;15489334;15302935;14702039;12477932;10574461;21549307;21820097;20889312;18029348;20508149;22101266;19471022;21139048;21693764;21890473;21906983;21252943;22864933;22863883;22505724;22960744 56916 D6RAY8;F8W9M2;Q9H4L7 AB032948;ABBA01063619;AC096746;AK023990;AK025302;AK027490;AK301668;AL359929;AL512768;AL704040;AMYH01014403;AY008271;BC017953;BC041800;BC045534;CH471057;DA798320;DB207879;NG_031945;NM_001128429;NM_001128430;NM_001254949;NM_020159;NR_045644 AAG16639;AAH17953;AAH45534;ABZ92355;ACE86841;ACE87528;BAA86436;BAB14759;BAB55150;BAH13535;CAB95769;CAC21685;EAX06049;EAX06050;EAX06051;NP_001121901;NP_001121902;NP_001241878;NP_064544;Q9H4L7 Hs.410406 1644861;1675479;1675800;1764597;1794626;1796844;1848108;1849762;2131376;2153893 G33505;PMC33171P1;RH71145;SHGC-148190;SHGC-24039;SHGC-24763;SHGC-68102;SHGC-68143;SMARCAD1__1204;WI-19794 ADERM;DKFZp762K2015;ETL1;HEL1;KIAA1122 ATP-dependent helicase 1;OTTHUMP00000161594;OTTHUMP00000161595;OTTHUMP00000219301;OTTHUMP00000219302;OTTHUMP00000219930;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1;hHEL1 APPROVED protein-coding ENSG00000163104 18398 11586 136000;612761 REVIEWED 1318831 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008] 4 4 q31.1-q31.2 144654066 144694017 + 144434616 144478642 + 1580863;6480464 12972596;9730600;9836642;18553938;18519663;17081983;16964243;16877760;16603771;16565220;16344560;15775975;15635413;15616580;15543136;15489334;15302935;15284901;15120635;15009096;14729942;12477932;12434153;12374985;12198550;12167701;11980720;11532953;11435432;10914549;10880450;10655480;15148359;15780937;21145461;21319273;16514417;16675956;16728976;16917504;18029348;18162579;19940112;10662543;16510875;19454010;21172662;16510874;19578370;20974961;16085498;18535655;21261476;11691835;14702039;15313181;14759371;17846119;21113140;23264744;23383273;21249171;22939629;23022380;21937426;17314511;19596686;21738833;21900490;22178446;22586326;19471022;21907836;21252943;21628590;21139048;21519849;21532573;21549307;21693764;21890473;21906983;22147730;22154806;22242598 8467 O60264 AB010882;ABBA01070003;AC099396;AC104685;AC139713;AF086544;AK123439;AK302841;AK308424;AK316444;AL157495;AMYH01014583;AU132439;BC023144;CH471056;NM_003601 AAH23144;AAY40920;AAY40965;ADZ15718;BAA25173;BAG64032;BAH14815;EAX05071;NP_003592;O60264 Hs.558422 1681975;1687395;1724713;1851428;2127884;2190985 D4S846;MARC_12251-12252:1005143327:1;RH122560;RH70242;SHGC-67312;SHGC-68114 ISWI;SNF2H;WCRF135;hISWI;hSNF2H OTTHUMP00000220293;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5;sucrose nonfermenting protein 2 homolog;sucrose nonfermenting-like 5 APPROVED protein-coding ENSG00000153147 11101 04538 603375 REVIEWED 1314575 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] 2 2 q35 216986820 217056021 + 217277137 217347776 + 1599053;6480464;7240710 11799392 10713074;10857751;18974355;18805831;18520775;18356746;17089404;16840568;16344560;16237566;15489334;14702039;12477932;12471207;22378147;19127206;19752368;19793861;19793862;19793863;19793864;19841479;20379614;20179009;20301550;21525954;22939629;21327070;21906983;22279047;22242598;21504906;22995303 50485 C9J6I8;C9J8F8;C9JHQ1;C9JP32;C9JS37;H7BYI2;H7C051;H7C1I3;Q9NZC9 ABBA01062815;ABBA01062816;AC098820;AF082179;AF210833;AF210834;AF210835;AF210836;AF210837;AF210838;AF210839;AF210840;AF210841;AF210842;AF432223;AI701066;AK000117;AK023780;AL122076;AMYH01011489;BC016482;BC029994;BC043341;BX104166;CH471063;DA856812;DB099423;NG_009771;NM_001127207;NM_014140 AAF24984;AAF70454;AAH16482;AAH43341;AAL73034;AAX93097;ABM82663;ABM85839;BAA90955;CAB59251;EAW70567;NP_001120679;NP_054859;Q9NZC9 Hs.516674 1788500;1788502;1788504;1788506;1788508;1788510;1788512;1788514;1788516;2139908;2218036 G67536;G67537;G67538;G67539;G67540;G67541;G67542;G67543;G67544;RH12875;SMARCAL1_2972 HARP;HHARP ATP-driven annealing helicase;HepA-related protein;OTTHUMP00000164057;OTTHUMP00000206800;OTTHUMP00000206801;SMARCA-like protein 1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1;sucrose nonfermenting protein 2-like 1 APPROVED protein-coding ENSG00000138375 11102 05969 242900;606622 REVIEWED 1318721 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.23 22459150 22506705 + 24129150 24176705 + 1580863;1599055;6480464;7240710 9671307 14604992;14526201;12892231;12665591;12637547;12620397;12548550;12477932;12226744;12213194;12200431;12145209;12138206;12112529;12082626;12016208;11921280;11880634;11782423;11782395;11756182;11734557;11479624;11259590;11085541;10773452;10739763;10688647;10619021;10521299;10490642;10365963;10319872;10208879;10078207;9892189;9710619;17669367;17616514;17486366;17376508;17357086;16912184;16889668;16772295;16568092;16528370;16344560;16314535;16288006;16267391;16219292;16154112;15993274;15985610;15981100;15899790;15796965;15769941;15761491;15642401;15589835;15489652;15461802;15175083;15150092;15101046;14990991;14743216;14702039;11950834;7801128;14963118;11078522;11430827;19480937;19351817;19276269;19234532;19221586;19221051;19141382;19124645;19033866;18997735;18985520;18973917;18710953;18676838;18647326;18580682;18422762;18327209;18285426;18266055;18262058;18236049;18087273;18072270;17922027;17717433;17699849;9448295;8895581;8709224;7739891;7627549;16403635;16945155;16075307;15875659;16687403;11784859;16169070;11238380;11018012;11013263;9845365;10943845;11726552;11486022;9891079;22544318;22698742;19913121;20628086;21159874;1569166;15696166;16387653;18029348;19305156;19320657;19328320;19398554;19503603;19515827;19582488;19683621;19805520;19808872;19902524;20003390;20118769;20472658;9128241;21108436;15314177;18414052;18809673;19650111;20932739;19525936;20305614;20506188;12453419;14559996;16199878;16287714;16601680;19061646;19371634;19454010;20460684;20930055;21240060;14729568;17620012;20829602;15096481;18042045;9584200;9744861;21255467;21832049;22752724;22939629;23275444;15141006;20614030;21521802;8804307;21057957;21705046;21809989;21494030;21208904;21613800;18451880;20360068;21127945;19471022;20305087;21159066;21637919;21900206;22242598;22285184;22334708;22479537;22490415;22573825;22672440;22686875;23074045;21139048;21520050;21532573;21549307;21890473;21906983;22020042;22082606;22038540;21628590;22434358;22614000;19505873;21145461;22797305;22949514;23382691;21963094;23000965;23348212;19014595;19232540;19389610;19716452;19750561;21347347;21994574;22505724;22797925;22928108;20078948;23245672 6598 AAB34227;B5MCL5;C9JTA6;G5E975;Q12824;Q9H836 AB017523;ABBA01055121;ABBA01055122;ABBA01055123;ABBA01055124;AJ011737;AJ011738;AK021419;AK024025;AK299411;AK303620;AL389878;AL389881;AMYH01012647;AP000349;AP000350;AU143041;AY207470;AY207471;AY207472;BC117114;BC143667;BG705851;CH471095;CR456581;DQ230988;NG_009303;NM_001007468;NM_003073;R37717;Y17118 AAB34227;AAI17115;AAI43668;AAO59166;AAO59167;AAO59168;ABB02184;ADR82978;BAB14784;BAC77068;BAG51033;BAG61393;BAG64629;CAA09758;CAA09759;CAA76639;CAG30467;CAK54611;CAK54910;EAW59605;EAW59606;EAW59607;EAW59608;NP_001007469;NP_003064;Q12824 Hs.534350 1680593;1683126;2163599;2185030;2185032 A006E25;G20745;RH80266;RH80678;SHGC-33862 BAF47;INI1;MRD15;RDT;RTPS1;SNF5;SNF5L1;Sfh1p;Snr1;hSNFS BRG1-associated factor 47;OTTHUMP00000198410;OTTHUMP00000198411;OTTHUMP00000198412;OTTHUMP00000198413;SNF5 homolog;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1;hSNF5;integrase interactor 1 protein;malignant rhabdoid tumor suppressor;sucrose nonfermenting, yeast, homolog-like 1 APPROVED protein-coding ENSG00000099956 11103 03364 601607;609322;614608 REVIEWED 5129382 SMARCE1P1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1 11 11 q22.3 104428958 104430225 - 107274096 107275363 - 100271884 ABBA01039883;AMYH01004014;AP000766;NG_011597 pseudo 39731 INFERRED 5129407 SMARCE1P2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 2 6 6 6 q14.3 85572594 85573814 - 85196018 85197238 - 85139299 85140519 - 442233 ABBA01040464;AL137010;AMYH01016474;NG_011600 pseudo 39732 INFERRED 5129408 SMARCE1P3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 3 14 14 14 q11.2 1491205 1492483 + 20700511 20701789 + 21630671 21631949 + 401744 ABBA01061240;AL157687;AMYH01005594;NG_011599 pseudo 39733 INFERRED 5129406 SMARCE1P4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 4 8 8 8 p11.23 35905601 35906911 + 37060455 37073080 + 36952615 36953925 + 642879 ABBA01023575;AC092818;AMYH01018647;NG_011598 pseudo 39735 INFERRED 1313419 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q13-q14 48765250 48780761 + 50478983 50494494 + 1580863;6480464 12917342;8804307;11078522;18029348;16484223;16344560;16189514;15489334;15146197;12753905;12665591;12477932;11734557;11053448;10078207;9892636;9710619;9693044;8895581;8889549;11784859;11018012;17474147;19762545;14559996;16199878;18042045;18809673;19371634;20211142;14729568;20460684;11726552;22939629;21118156;22990118;18303029;22285184;22334708;15985610;20360068;21532573;21906983;20305087;19454010;22505724 6602 F8VRQ4;F8VUB0;F8VW95;F8VZ70;H0YHV1;Q96GM5 AA610093;ABBA01031554;ABBA01031555;AC025154;AF109733;AK130517;AK292700;AK293932;AMYH01004450;AMYH01004451;BC000063;BC009368;BE905082;CH471111;CN272379;DA825057;DB010252;N75126;NM_003076;NM_139071;U66617 AAC50695;AAD23390;AAH09368;ABZ92538;BAF85389;BAG57311;EAW58120;EAW58121;EAW58122;EAW58123;EAW58124;EAW58125;EAW58126;EAW58127;NP_003067;NP_620710;Q96GM5 Hs.79335 1645476;1666176;1856936;2144553;2175612 A005C39;RH47016;RH70705;SHGC-32103;WI-22480 BAF60A;CRACD1;Rsc6p 60 kDa BRG-1/Brm-associated factor subunit A;BRG1-associated factor 60A;OTTHUMP00000196567;OTTHUMP00000196568;SWI/SNF complex 60 kDa subunit A;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1;Swp73-like protein;chromatin remodeling complex BAF60A subunit;mammalian chromatin remodeling complex BRG1-associated factor 60A APPROVED protein-coding ENSG00000066117 11106 03438 601735 REVIEWED 5129409 SMARCE1P5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5 13 13 13 q14.11 26225071 26226362 + 44066994 44068285 + 45168994 45170285 + 400129 ABBA01021231;AL356107;AMYH01005083;NG_011330 pseudo 39734 INFERRED 5129400 SMARCE1P6 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6 2 2 2 p23.3 26212304 26213831 + 26225577 26227104 + 26371961 26374141 + 646196 ABBA01045174;AC011742;AMYH01010189;NG_028933 pseudo 39737 INFERRED 734113 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q23-q24 56297562 56308472 - 59263173 59274083 - 61909441 61920351 - 1580863;6480464 10382302;11726552;15231747;17474147;8804307;17081983;16964243;15489334;12665591;12477932;9693044;8895581;10943845;21145461;20148946;20308539;14559996;22939629;20305087;20360068;21139048;21549307;21890473;21906983;22505724 6603 J3KMX2;J3KT18;J3QQL7;J3QS33;J3QWB6;Q92925 ABBA01035318;ABBA01035319;AC015651;AF068245;AF113019;AK025917;AK300939;AK303951;AK307944;AMYH01008549;BC018953;BC136322;BC142963;BM463728;CH471109;NM_001098426;U66618 AAC50696;AAF20280;AAH18953;AAI36323;AAI42964;BAG62568;BAG64878;EAW94266;EAW94267;EAW94268;NP_001091896;Q92925 Hs.250581 1676047;1739463;1773615;1798206;2135167;2135169;2191523 D17S1654;MARC_26036-26037:1032447192:1;RH36133;RH36220;RH80844;SGC30177;SMARCD2_2130 BAF60B;CRACD2;PRO2451;Rsc6p 60 kDa BRG-1/Brm-associated factor subunit B;BRG1-associated factor 60B;SWI/SNF complex 60 kDa subunit B;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2;Swp73-like protein;chromatin remodeling complex BAF60B subunit;mammalian chromatin remodeling complex BRG1-associated factor 60B APPROVED protein-coding ENSG00000108604 11107 03439 601736 REVIEWED 1312524 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008] 3 3 p21.31 47602391 47798410 - 47627378 47823405 - 1580863;6480464 8889548;12917342;8804307;10078207;11018012;11078522;19367581;19156145;18581278;17513758;17081983;16568092;16199878;16083285;15489334;15302935;15144186;14743216;12665591;12477932;11734557;11726552;11238380;10619021;9891079;9744861;9710619;9693044;9590696;8895581;11784859;11013263;11950834;12244326;9845365;10943845;14966121;14530271;16387653;16940996;17474147;17643375;20379614;21145461;17074803;18029348;18809673;19525936;19650111;19321449;12453419;14559996;16055720;16159877;16217013;16230384;16287714;16452305;16601680;20086098;20829358;11003653;15150092;15170388;15314177;15923603;18003620;18042045;18086889;9584200;23275444;23383273;14729568;17620012;20460684;20400511;20506188;20508149;22939629;23022380;17314511;17526739;21118156;21252943;18303029;22242598;22318606;22334708;22586326;19471022;20305087;22139574;19322201;21628590;21699904;14676191;15985610;16751102;18781797;20130577;20360068;20972266;21520050;21532573;21549307;21555454;21693764;21890473;21906983;22053931;22505724 6599 F8WE13;Q58EY4;Q92922 ABBA01024678;ABBA01024679;ABBA01024680;ABBA01024681;ABBA01024682;ABBA01024683;ABBA01024684;ABBA01024685;ABBA01024686;AC026318;AC112512;AC130472;AK302412;AK302541;AMYH01013145;BC012101;BC021862;BC032564;BC039843;BC040242;BC050564;BC065253;BC113465;BC117213;BG474088;BM971095;CH471055;NM_003074;U66615 AAC50693;AAH21862;AAH32564;AAH39843;AAH50564;AAH65253;AAI13466;AAI17214;ACE86821;ACE87507;BAG63721;BAG63813;EAW64831;EAW64832;NP_003065;Q92922 Hs.476179 1646495;1646497;1647101;1670451;1679421;1735308;1762575;1762577;1798204;1857477;2141052;2147655;2163661;2167646;2175255;2177050;5111695 A005X26;D3S2944E;D3S3284;D3S3441;G20574;G22291;G42248;HSC11A082;RH91777;SHGC-146379;SHGC-146380;SHGC-30198;SHGC-53111;SHGC-76924;SMARCC1_2308;WI-11317;WI-17963 BAF155;CRACC1;Rsc8;SRG3;SWI3 BRG1-associated factor 155;OTTHUMP00000164798;SWI/SNF complex 155 kDa subunit;SWI/SNF complex subunit SMARCC1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1;chromatin remodeling complex BAF155 subunit;mammalian chromatin remodeling complex BRG1-associated factor 155 APPROVED protein-coding ENSG00000173473 11104 03435 601732 VALIDATED 1323550 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q35-q36 145493418 145531599 - 150566992 150605164 - 150936059 150974231 - 6480464 14701856;8804307;18816825;17081983;16687403;15489334;14697242;12853948;12690205;12477932;11726552;9891079;9693044;8895581;17474147;17363140;22939629;21694703;20305087;21906983;22068056;23219531;23563706;23382691;22505724;22833560 6604 C9JYI7;F8WBJ3;H7C4E9;Q6STE5 AACC02000108;ABBA01035158;ABBA01035159;ABBA01035160;AC005486;AC021097;AK127595;AK297876;AK309500;AK316173;AMYH01018144;AY450430;AY450431;BC002628;BC110350;BI598614;BX648385;CH471173;NG_029468;NM_001003801;NM_001003802;NM_003078;U66619 AAC50697;AAH02628;AAI10351;AAR88510;AAR88511;AAS00380;AAS02031;BAG54531;BAH12684;BAH14544;EAL24510;EAW54005;EAW54006;EAW54007;EAW54008;EAW54009;NP_001003801;NP_001003802;NP_003069;Q6STE5 Hs.647067 1338462;1688328;1735704;1779142;2149938;2179486;2181139 D7S2157E;D7S642;G33154;GDB:4584943;RH66788;RH91733;STS-R51978 BAF60C;CRACD3;MGC111010;Rsc6p 60 kDa BRG-1/Brm-associated factor subunit C;60kDa BRG-1/Brm associated factor subunit c;BRG1-associated factor 60C;OTTHUMP00000212163;OTTHUMP00000212164;SWI/SNF complex 60 kDa subunit C;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3, isoform 1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3;Swp73-like protein;chromatin remodeling complex BAF60C subunit;mammalian chromatin remodeling complex BRG1-associated factor 60C APPROVED protein-coding ENSG00000082014 11108 03440 601737 REVIEWED 1315563 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q13.2 54843379 54869544 - 56555636 56583351 - 1580863;6480464 8804307;12917342;10078207;11018012;12192000;11078522;17081983;16713569;16199878;16169070;15489334;15345747;15302935;14743216;12665591;12477932;12368262;11734557;11238380;9710619;9693044;9435219;8895581;8889548;11784859;11013263;11726552;12244326;9845365;10943845;15035981;19505873;21145461;14729568;17620012;17803295;17878164;20460684;19164553;19336002;16387653;16940996;17474147;17643375;18029348;12453419;14559996;15150092;16055720;16159877;16230384;16568092;16601680;18003620;18086889;18809673;19454010;19525936;19650111;19759913;20086098;9584200;23022380;20400511;22939629;21118156;21699904;22379092;22573825;22586326;15985610;16751102;18451880;18781797;20130577;20360068;21139048;21532573;21549307;21693764;21890473;21906983;19471022;20305087;19322201;21044950;21628590;21988832;22113938;23000965;23030715;23275444;21382013;22505724 6601 F8VXC8;F8VZW6;Q8TAQ2 AB209006;AB209293;ABBA01008406;ABBA01008407;AC073896;AK025128;AK293896;AK315153;AL833124;AMYH01004500;BC009067;BC013045;BC026222;BC040645;BE326466;BQ272432;BT009924;BX476347;CB850719;CH471054;CX165574;NM_001130420;NM_003075;NM_139067;U66616 AAC50694;AAH09067;AAH13045;AAH26222;AAP88926;ABW03707;BAD92243;BAD92530;BAG57283;CAH56218;EAW96906;EAW96907;EAW96908;NP_001123892;NP_003066;NP_620706;Q8TAQ2 Hs.236030;Hs.632717 1652491;1656541;1746817;1773166;2122421;5092710 A005R19;G32279;G64806;RH47781;STS-T64879;STS-U66616 BAF170;CRACC2;DKFZp313D0632;Rsc8 BRG1-associated factor 170;OTTHUMP00000243441;OTTHUMP00000243447;OTTHUMP00000243474;OTTHUMP00000243475;SWI/SNF complex 170 kDa subunit;SWI/SNF complex subunit SMARCC2;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2;SWI3-like protein;chromatin remodeling complex BAF170 subunit;mammalian chromatin remodeling complex BRG1-associated factor 170 APPROVED protein-coding 11105 03437 601734 REVIEWED 1318766 SMC1B structural maintenance of chromosomes 1B SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008] 22 22 22 q13.31 29651346 29720883 - 44118608 44188164 - 45739944 45809500 - 1580863;6480464;6907045 18029348;14660695;11564881;11329013;10591208;15125634;12759374;12477932;20819778;21110914;21875947 27127 Q8NDV3 ABBA01007137;AJ504806;AK125736;AL008718;AL021391;AL704843;AMYH01012849;BC126208;BG194018;CH471138;NM_148674 AAI26209;BAC86266;CAD43404;EAW73381;EAW73382;EAW73383;NP_683515;Q8NDV3 Hs.334176 1644388;1710198;1733246;1747481;1747483;1854724 AL008659;D22S597;D22S598;G65366;G65367;SHGC-83724 FLJ43748;SMC1BETA;SMC1L2;bK268H5;bK268H5.5 OTTHUMP00000199851;OTTHUMP00000199852;SMC protein 1B;SMC-1-beta;SMC-1B;SMC1 (structural maintenance of chromosomes 1, yeast)-like 1;SMC1 structural maintenance of chromosomes 1-like 2;mitosis-specific chromosome segregation protein like protein beta;structural maintenance of chromosomes protein 1B APPROVED protein-coding ENSG00000077935 11112 10564 608685 VALIDATED 1313743 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008] 17 17 q21.2 36037498 36057629 - 38783972 38804103 - 6480464;7240710 12637547;12192000;9435219;12917342;11078522;18029348;17669635;16769725;16199878;16135788;16051670;15489334;15231748;14743216;14702039;12672490;12477932;12145209;12110891;11734557;11256614;11147808;10078207;8895581;11018012;12244326;9845365;14530271;14623284;19505873;21145461;19164553;19321449;18809673;19609353;19650111;19759913;15696166;15985610;16919237;16940996;17043677;20460533;14559996;16055720;16287714;16538531;18559499;20829358;15314177;15743818;11003653;14729568;20460684;17363140;11726552;8804307;22939629;22419023;20130577;20360068;21139048;21532573;21549307;21693764;21890473;21906983;21963094;19471022;20305087;21465167;15140983;23000965;23377182;22505724 6605 B4DGM3;C0IMW4;C0IMW5;C0IMW7;H7C048;J3KS99;J3KT85;J3QKS7;J3QKX6;J3QL66;J3QR61;J3QS32;K7EMQ8;Q969G3 ABBA01031823;AC004585;AC073508;AF035262;AK001532;AK095047;AK294218;AK294666;AMYH01008384;BC007082;BC011017;BC047731;BC063700;BC069196;BQ707908;BT007176;CH471152;EU327017;EU327018;EU327019;EU327020;EU327021;NG_032163;NM_003079 AAC04509;AAH07082;AAH11017;AAH63700;AAP35840;ABM81638;ABM84407;ABM84820;ABM87381;ACA81391;ACA81392;ACA81393;ACA81394;ACA81395;BAG50933;BAG52975;BAG57525;BAG57834;EAW60670;EAW60671;NP_003070;Q969G3 Hs.743978 1699156;1733466;1798208;1856574;2120957 A002R45;D17S1237;RH103157;SMARCE1_2145;STS-AA035420 BAF57;FLJ35648 BRG1-associated factor 57;OTTHUMP00000164519;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1;SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1;chromatin remodeling complex BRG1-associated factor 57 APPROVED protein-coding 11109 04382 603111;607174 REVIEWED 1354451 SMC3 structural maintenance of chromosomes 3 This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008] 10 10 q25 112317439 112354382 + 112327449 112364392 + 1580863;6480464;6907045;7240710 11590136;10801778;12498344;9506951;12651860;19094982;18996922;18727658;18614053;18442975;18299561;17273969;17081288;16156898;16043481;15837422;15656913;15635413;15164054;15125634;12759374;12477932;11564881;11076961;11042152;9789013;9528857;11877376;12198550;17353931;19907496;19906707;20562859;20936779;19444697;11483963;15855230;15917200;16385451;16484223;16682347;17113138;17148452;17478428;18832153;19615732;20085707;20358602;16159877;19454010;17349791;17925232;20811636;21252943;22965847;15737063;22939629;23022380;9015313;17112726;20818333;10931856;21139048;21549307;21890473;21906983;21907836;22145905;16802858;21963094;22678362;23000965;23106691;23349634;20720539;22615490;17043677;17962804;20360068;21081666;20473970;21126432;20301283;21880767;18247557;21043528;21145461;21319273;23455922;23667531;23752268;21111234;11983169;21875947;22268729;22751501;22797925 9126 Q86VX4;Q9UQE7 ABBA01063026;AF020043;AF067163;AJ005015;AK289771;AK315845;AL359260;AMYH01003063;BC047324;CA439554;CH471066;NG_012217;NM_005445 AAC14893;AAD32447;AAH47324;BAF82460;BAF98736;CAA06289;EAW49557;EAW49558;NP_005436;Q9UQE7 Hs.24485 1700274;5491995 RH103755;SMC3-1 BAM;BMH;CDLS3;CSPG6;HCAP;SMC3L1 OTTHUMP00000020477;SMC protein 3;SMC-3;basement membrane-associated chondroitin proteoglycan;chondroitin sulfate proteoglycan 6 (bamacan);chromosome-associated polypeptide;structural maintenance of chromosomes protein 3 APPROVED protein-coding ENSG00000108055 2468 05829 606062;610759 REVIEWED 1313128 SMC2 structural maintenance of chromosomes 2 Members of the structural maintenance of chromosomes, or SMC, family (e.g., SMC1A; MIM 300040) are critical for mitotic chromosome condensation in frogs and for DNA repair in mammals.[supplied by OMIM, Nov 2010] 9 9 q31.1 105896362 105943521 + 106856541 106903700 + 1580863;6480464 21194474;12589063;9789013;11136719;10958694;17488335;15635413;14702039;14660695;12477932;15148359;17353931;18247557;17653272;19454010;20823528;22863883;22990118;22939629;17113138;17314511;17043677;21633354;14532007;21252943;17268547;21139048;21890473;21906983;22145905;21618603;21988832;23000965;23095742;21504906;22505724;22797925 10592 A8K984;B3KMB1;B7ZLZ7;O95347;Q05BV1;Q05D74;Q5T821;Q6IPS5;Q7Z2X1 ABBA01042838;AF092563;AF113673;AJ420415;AJ420453;AK000955;AK001485;AK124957;AK292599;AK307752;AL161791;AL354938;AL833191;AMYH01021592;AY739716;BC003396;BC017845;BC032705;BC055081;BC061906;BC071750;BC107891;BC130385;BC144163;BF969462;BN000163;CH471105;NM_001042550;NM_001042551;NM_001265602;NM_006444;U46075 AAA86843;AAC72360;AAF29579;AAH03396;AAH17845;AAH32705;AAH55081;AAH61906;AAH71750;AAI07892;AAI30386;AAI44164;AAW65985;BAF85288;BAG50839;BAG50923;CAD89875;CAI46187;EAW58973;EAW58974;EAW58975;EAW58976;EAW58977;NP_001036015;NP_001036016;NP_001252531;NP_006435;O95347 Hs.119023 1665243;1681504;1853707;2147966;5106941 1712;A006V39;RH64831;SGC33405;WI-14706 CAP-E;CAPE;FLJ10093;SMC-2;SMC2L1;hCAP-E OTTHUMP00000021818;OTTHUMP00000021819;SMC protein 2;SMC-2;SMC2 (structural maintenance of chromosomes 2, yeast)-like 1;SMC2 structural maintenance of chromosomes 2-like 1;XCAP-E homolog;chromosome-associated protein E;smc2 structural maintenance of chromosomes 2-like 1 (yeast);structural maintenance of chromosomes (SMC) family member, chromosome-associated protein E;structural maintenance of chromosomes protein 2 APPROVED protein-coding ENSG00000136824 14011 09277 605576;615222 VALIDATED 2303335 SMCO2 single-pass membrane protein with coiled-coil domains 2 12 12 12 p11.23 32765333 32800716 + 27514689 27546385 + 27619743 27655118 + 6480464 16541075 341346 A6NFE2;J3KNC3 ABBA01068048;ABBA01068049;AC068794;AMYH01004351;NM_001145010 A6NFE2;NP_001138482 Hs.282121 1341487;1726103 D12S1042;G62358 C12orf70 OTTHUMP00000240404;OTTHUMP00000240405;hypothetical protein LOC341346;single-pass membrane and coiled-coil domain-containing protein 2;uncharacterized protein C12orf70 APPROVED protein-coding ENSG00000165935 34448 VALIDATED 1315434 SMC4 structural maintenance of chromosomes 4 Members of the structural maintenance of chromosomes, or SMC, family (e.g., SMC1A; MIM 300040) are critical for mitotic chromosome condensation in frogs and for DNA repair in mammals.[supplied by OMIM, Nov 2010] 3 3 q26.1 161600124 161635435 + 160117430 160152741 + 1580863;6480464 20585571;11136719;9789013;11850403;17488335;16565220;14702039;12477932;11321372;11230166;10958694;10319587;8125298;15148359;18247557;21319273;19454010;18029348;20800603;22863883;22939629;16196087;17113138;17314511;22586326;14532007;21252943;17043677;19596686;17268547;21139048;21693764;21890473;21906983;22145905;21150319;21963094;22842912;23000965;21382013;22505724 10051 C9IYK2;C9J578;C9J9E4;C9JJ64;C9JR83;C9JVD8;C9JWF0;E9PD53;F8WCB7;Q9NTJ3 AB019987;ABBA01058796;AC024221;AF092564;AK002200;AK026361;AK122939;AK128143;AK225437;AK307508;AK315070;AL136877;AL833949;AMYH01013614;AMYH01013615;BC001557;BC065259;BC070161;BC106033;BI090399;CH471052;NM_001002800;NM_005496 AAC72361;AAH01557;AAH65259;AAH70161;AAI06034;AAI46371;AAI48797;BAA73535;BAG53807;BAG54637;CAB66811;CAD38803;EAW78639;EAW78640;EAW78641;EAW78642;NP_001002800;NP_005487;Q9NTJ3 Hs.58992 2160897;2182513;5017227;5124856 G38154;RH98841;SHGC-52508;STS-W93650 CAP-C;CAPC;SMC-4;SMC4L1;hCAP-C OTTHUMP00000213837;OTTHUMP00000213838;OTTHUMP00000213841;OTTHUMP00000213842;SMC protein 4;SMC-4;SMC4 structural maintenance of chromosomes 4-like 1;XCAP-C homolog;chromosome-associated polypeptide C;smc4 structural maintenance of chromosomes 4-like 1 (yeast);structural maintenance of chromosomes protein 4 APPROVED protein-coding ENSG00000113810 14013 09276 605575 VALIDATED 7246425 SMC5-AS1 SMC5 antisense RNA 1 (head to head) 12477932;14702039 100507299 ABBA01033820;ABBA01033821;AI984490;AK124136;AL158153;AL162390;AMYH01021394;BC040840;CR936772;NR_039990 Hs.556816;Hs.734108 1661241;2163636;5015607;5015609;5015615;5015661;5019288;5115198;5118384;5118686 D11S2442;D11S3014;D11S3026;D11S3076;D11S3243;D11S3553;D3S3184;DXS7960;RH47183;STS-N33222 MAMDC2-AS2 miscrna 48718 VALIDATED 737070 SMC1A structural maintenance of chromosomes 1A Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] X X p11.22-p11.21 53417795 53466343 - 53401070 53449618 - 1580863;6480464;6907045 9789013;11076961;12199140;11877377;16438930;11590136;12226669;7757074;18029348;19468298;18996922;18832153;18763866;18299561;17544403;17273969;17106445;17102637;16623664;16604071;16242161;16043481;15837422;15772651;15640246;15635413;15546961;15489334;15302935;14702039;14657349;12607005;12477932;12168954;11790298;11564881;10931856;10409732;18247557;21043528;21145461;21319273;9295362;8724849;8076819;7757075;12759374;11877376;12198550;12930902;17353931;17925232;11483963;11682612;15917200;17148452;19052029;19414588;19615732;19701948;20016259;20085707;20159591;20358602;19308699;20562859;20514443;20635401;16159877;16226712;21056556;15737063;22939629;18219272;18385154;17242407;20670891;23455922;23752268;22863883;23022380;17349791;20360068;21081666;21757780;17112726;17113138;20818333;21963094;22751105;23000965;23106691;23349634;15855230;16391231;18781797;19596686;22178446;18239623;20720539;21139048;21549307;21890473;21906983;22145905;20301283;21880767;15342556;21875947;22053931;22268729;22505724;22751501;22965847 8243 G8JLG1;H0Y7K8;Q14683 ABBA01056410;ABBA01056411;ABBA01056412;ABBA01056413;ABBA01056414;ABBA01056415;ABBA01056416;AC233728;AF176781;AK055575;AK056308;AK091458;AK291921;AK301266;AL161779;AMYH01022423;BC064368;BC080185;BC112127;BC171726;BP312805;BQ232418;BX640922;CH471154;D80000;NG_006988;NM_001281463;NM_006306;S78271;Z97054 AAB34405;AAH64368;AAH80185;AAI12128;AAQ13659;ADR83441;BAA11495;BAF84610;BAH13445;CAE45960;CAI42089;CAI42645;CAI42646;EAW93149;EAW93150;EAW93151;NP_001268392;NP_006297;Q14683 Hs.211602 1650165;1652438;1675013;1678843;1702122;1796846;2114635;7183975 AL023613;DXS423;RH25393;RH26243;SMC1L1__1206;STS-T70312;WI-13565 CDLS2;DKFZp686L19178;DXS423E;KIAA0178;MGC138332;SB1.8;SMC1;SMC1L1;SMC1alpha;SMCB OTTHUMP00000023351;SMC protein 1A;SMC-1-alpha;SMC-1A;SMC1 (structural maintenance of chromosomes 1, yeast)-like 1;SMC1 structural maintenance of chromosomes 1-like 1;segregation of mitotic chromosomes 1;smc-like 1 (yeast);structural maintenance of chromosomes protein 1A APPROVED protein-coding ENSG00000072501 11111 02077 300040 REVIEWED 1346026 SMCR Smith-Magenis syndrome chromosome region 7240710 6600 11113 182290 1345469 SMCR2 Smith-Magenis syndrome chromosome region, candidate 2 11997338 140768 AI821758 Hs.369680 protein-coding 17914 1343673 SMCR3 Smith-Magenis syndrome chromosome region, candidate 3 11997338 140769 AA609047 protein-coding 17915 1316718 SMC5 structural maintenance of chromosomes 5 9 9 9 q21.12 43464262 43560152 + 72063698 72159609 + 72873878 72969789 + 6480464 18086888;17589526;16810316;16344560;16055714;15489334;15164053;14702039;12477932;12168954;11408570;9628581;18667531;19502785;19861517;20379614;22939629;20360068;21550342;15601840;21900206;19471022;21139048;21890473;21906983;22505724;22751501 23137 Q8IY18 AA709087;AB011166;ABBA01033821;AJ310550;AK055825;AK304133;AL162390;AMYH01021394;BC017666;BC020393;BC034441;BC038225;CH471089;DB220819;DB318469;NM_015110 AAH17666;AAH38225;ABM84290;ABM87767;BAA25520;BAG65027;CAC39247;EAW62501;EAW62502;NP_055925;Q8IY18 Hs.534189;Hs.601181 1650126;1664462;1855006;2111198;5015961 D15S1477;D9S1695;D9S308E;SHGC-24172;STS-D29466 KIAA0594;SMC5L1 OTTHUMP00000021442;SMC protein 5;SMC-5;SMC5 structural maintenance of chromosomes 5-like 1;hSMC5;smc5 structural maintenance of chromosomes 5-like 1 (yeast);structural maintenance of chromosomes protein 5 protein-coding ENSG00000198887 20465 10241 609386 VALIDATED 1352395 SMCR4 Smith-Magenis syndrome chromosome region, candidate 4 11997338;10737800 140770 BG992883 protein-coding 17917 1352378 SMCR5 Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) 17 17 17 18619464 18622306 - 17622694 17623116 - 17680000 17682843 - 11997338 140771 Q8TEV8 ABBA01009747;AC122129;AF467442;AMYH01008159;CH471196;NR_024007 AAL78339;EAW55697 Hs.352643 NCRNA00034 miscrna ENSG00000226746 17918 VALIDATED 1350603 SMCR6 Smith-Magenis syndrome chromosome region, candidate 6 11997338 140772 AJ230805;BF511382;W94594 Hs.660306 protein-coding 17919 1601987 SMCO4 single-pass membrane protein with coiled-coil domains 4 11 11 11 q21 90503166 90568014 - 92851286 92925437 - 93211638 93276546 - 6480464 10863097;15489334;12477932;17207965 56935 E9PQ76;E9PSB8;Q9NRQ5 ABBA01040044;ABBA01040045;AF197137;AMYH01003958;AP003499;AP004242;BC031564;CH471065;NM_020179 AAF86046;AAH31564;ADQ32449;EAW66901;EAW66902;EAW66903;EAW66904;EAW66905;NP_064564;Q9NRQ5 Hs.438064 1342145;1663016;1688724;1721509;1745943;1776757;2142821;2152899;5094262 D11S1386;D17S930;G54672;G59609;G64291;RH39276;RH70343;SHGC-58127;g04502m C11orf75;FN5 OTTHUMP00000235952;OTTHUMP00000235955;UPF0443 protein C11orf75;hypothetical protein LOC56935;single-pass membrane and coiled-coil domain-containing protein 4 APPROVED protein-coding ENSG00000166002 24810 17008 609477 VALIDATED 1601772 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011] 18 18 18 p11.32 2531141 2680454 + 2645886 2795015 + 2655886 2805015 + 6480464;7240710 17567985;16461635;16344560;12477932;10737800;9734811;22586326;20379614;19394292;22990118;23022380;23143600;20301616;19471022;19596686;21139048;21693764;21890473;21906983;21252943;23269277;19738201;21963094;22623428;23000965;23542155;22505724 23347 A6NHR9;J3KRK8;J3KTK7;J3KTL8;J3QSH1 AB014550;ABBA01049833;ABBA01049834;ABBA01049835;ABBA01049836;AI904018;AK025646;AK126324;AL080138;AMYH01008776;AMYH01008777;AP001011;AP005061;AW503637;BC006008;BC035774;BP872870;BU153211;BU509173;CR627458;DA283721;DA675822;DB071574;DN913642;NG_031972;NM_015295 A6NHR9;BAA31625;BAB15202;BAC86525;CAB45732;CAH10538;NP_056110 Hs.8118 1644301;1652568;1654385;1665444;1665518;1672750;1695580;1713857;1749297;1756895;2114436;2149685;2149687;2151884;2159610 D18S1042;RH119360;RH16142;RH45654;RH45745;RH47564;RH77973;SHGC-110970;SHGC-144058;SHGC-31055;SHGC-68828;STS-F04013;STS-N33215;WI-20109;WI-22474 DKFZp686O0631;KIAA0650 SMC hinge domain-containing protein 1;structural maintenance of chromosomes flexible hinge domain-containing protein 1 APPROVED protein-coding ENSG00000101596 29090 158901;614982 REVIEWED 1344602 SMCR9 Smith-Magenis syndrome chromosome region, candidate 9 17 p11.2 17322658 17326728 + 11997338 140776 P0DM48 ABBA01009760;AC073621;AMYH01008157;NM_001243312 NP_001230241;P0DM48 Hs.740247 hypothetical protein LOC140776;smith-Magenis syndrome chromosomal region candidate gene 9 protein;uncharacterized protein LOC140776 protein-coding 17913 VALIDATED 737432 SMCP sperm mitochondria-associated cysteine-rich protein Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 125921062 125927787 + 151117422 151124147 + 152850798 152857523 + 1580863;6480464 17047026;16325371;16189514;15489334;12477932;11940662;11375445;10411523;8916043;8833144;2715306;1418626;18029348 4184 P49901;Q5T7P5 ABBA01049426;ABBA01049427;AK312020;AL162596;AMYH01001401;BC014593;BC016744;CH471121;NM_030663;X89960;X89961 AAH14593;AAH16744;ABM81714;ABM84870;BAG34957;CAA62000;CAD56487;EAW53361;NP_109588;P49901 Hs.111850 1856631;2161434 G34873;SGC35666 HSMCSGEN1;MCS;MCSP;MGC26305;MGC26519 OTTHUMP00000014403;mitochondrial capsule selenoprotein;sperm mitochondrial-associated cysteine-rich protein APPROVED protein-coding ENSG00000163206 6962 03093 601148 REVIEWED 1605173 SMCO3 single-pass membrane protein with coiled-coil domains 3 12 12 12 p12.3 20102571 20112104 - 14848851 14858383 - 14957584 14967116 - 6480464 15489334;14702039;12477932;8889548;23449627 440087 A2RU48 ABBA01067886;AC007655;AK092637;AMYH01004303;BC132752;BC132754;BM696674;BU735185;CH471094;NM_001013698 A2RU48;AAI32753;AAI32755;ADR82872;BAC03930;EAW96331;NP_001013720 Hs.220931 2190885 MARC_10307-10308:998934573:1 C12orf69 OTTHUMP00000236006;Uncharacterized protein LOC440087;hypothetical protein LOC440087;single-pass membrane and coiled-coil domain-containing protein 3;uncharacterized protein C12orf69 APPROVED protein-coding ENSG00000179256 34401 18442 VALIDATED 1322555 SMC6 structural maintenance of chromosomes 6 2 2 2 p24.2 17724884 17815383 - 17708562 17798541 - 17845079 17935096 - 1580863;6480464 11256614;18086888;17589526;16810316;16381901;16055714;15815621;15489336;15489334;14702039;12477932;11408570;11230166;11076863;14968112;18667531;20056645;20360068;21550342;14701739;12938929;21139048;21890473;21906983;22751501 79677 C9JEF0;C9JMN1;H7C3J8;Q96SB8 ABBA01018508;AC097377;AJ310551;AK025769;AK092853;AK098325;AK124545;AK292421;AL136544;AL832979;AMYH01010143;BC011389;BC022998;BC032675;BC039828;CD369665;CH471053;DB451629;NM_001142286;NM_024624 AAH32675;AAH39828;AAX88851;BAB15236;BAF85110;CAB66479;CAC39248;CAH56327;CAL37412;EAX00866;EAX00867;EAX00868;NP_001135758;NP_078900;Q96SB8 Hs.526728 1683962;1709456;2127021;2142266;2148460 A004S33;RH67770;RH94239;SHGC-81773;WI-12545 FLJ22116;FLJ35534;SMC-6;SMC6L1;hSMC6 OTTHUMP00000115842;OTTHUMP00000115843;OTTHUMP00000200488;OTTHUMP00000200490;SMC protein 6;SMC6 structural maintenance of chromosomes 6-like 1;smc6 structural maintenance of chromosomes 6-like 1 (yeast);structural maintenance of chromosomes protein 6 protein-coding ENSG00000163029 20466 10242 609387 VALIDATED 1604008 SMCR7L Smith-Magenis syndrome chromosome region, candidate 7-like 22 22 22 q13 23700340 23716193 + 38228230 38244083 + 39898284 39914137 + 6480464 15324660;12477932;11256614;16381901;16189514;15489336;11230166;11076863;10591208;9110174;8619474;21701560;20877624;21508961;21139048 54471 B0QY94;B0QY95;Q7L890;Q9NQG6 ABBA01055573;ABBA01055574;AF086364;AK000239;AK026539;AK290954;AL022312;AL136768;AL365515;AL834205;AMYH01012779;BC002587;BC002861;BC008327;BC009958;BC032530;BC047292;BC054037;BG419918;CH471095;NM_019008 AAH02587;AAH08327;BAA91027;BAF83643;CAB66702;CAB97211;CAD38892;CAL38265;CAL38549;CAL38622;EAW60335;EAW60336;EAW60337;EAW60338;EAW60339;NP_061881;Q9NQG6 Hs.744044 1647880;1651269;1677528;2158886;2174781;2174783 A006A38;G20660;RH138;RH64903;SGC30687;SHGC-57575 FLJ20232;HSU79252;MID51;MIEF1;dJ1104E15.3 OTTHUMP00000199136;OTTHUMP00000199138;OTTHUMP00000199140;Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like;mitochondrial dynamic protein MID51;mitochondrial dynamic protein of 51 kDa;mitochondrial dynamics proteins of 51 kDa;mitochondrial elongation factor 1 protein-coding ENSG00000100335 25979 13371 VALIDATED 1602982 SMEK3P SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene X X X p21.3 31606919 31610049 - 27388247 27391379 - 27478328 27481458 - 14702039 139420 Q6ZMV5 ABBA01072648;AC006210;AK057429;AK131475;AMYH01022176;NR_002784 BAB71482;BAD18620 Hs.350673 FLFL3P;FLJ32867;smk1 pseudo 33146 09960 PROVISIONAL 1347197 SMCR7 Smith-Magenis syndrome chromosome region, candidate 7 This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] 17 17 17 p11.2 19104964 19110211 + 18104594 18109820 + 18163848 18169095 + 6480464 16713569;16344560;16189514;15517828;14702039;12477932;11997338;19060904;21508961;21890473;21906983 125170 A8MT25;J3KTJ4;J3QR30;K7EKV6;Q96C03 ABBA01009736;AC127537;AF467443;AK056165;AK128310;AMYH01008167;BC014973;BC035292;CH471196;DB183618;NM_001144900;NM_139162;NM_148886 AAH14973;AAL78340;ADZ15378;BAB71108;BAC87377;EAW55651;EAW55652;NP_001138372;NP_631901;NP_683684;Q96C03 Hs.655555 2107625;5022649 D11S2875;SMCR7__6859 MGC23130;MID49 OTTHUMP00000065695;OTTHUMP00000065696;OTTHUMP00000065697;Smith-Magenis syndrome chromosomal region candidate gene 7 protein;mitochondrial dynamic protein MID49;mitochondrial dynamic protein of 49 kDa;mitochondrial dynamics proteins of 49 kDa APPROVED protein-coding ENSG00000177427 17920 18074 REVIEWED 1602445 SMDT1 single-pass membrane protein with aspartate-rich tail 1 22 22 22 q13.2 26281901 26286490 + 40805645 40810234 + 42475695 42480288 + 6480464 12477932;15461802;14702039;20877624 91689 F8WDX6;Q9H4I9 ABBA01055661;AK095636;AK312142;AL021878;AL449243;AMYH01012809;BC024237;BI754670;CH471095;CR456453;NM_033318;Z82192 AAH24237;BAG35078;CAC15000;CAG30339;EAW60488;NP_201575;Q9H4I9 Hs.306083 1654752;2132409;2155650;5022200;5022578;5022651 A006U46;D11S2921;D1S1423;L18426;SHGC-32218;STS-N22521 C22orf32;DDDD;dJ186O1.1 OTTHUMP00000199677;OTTHUMP00000199678;UPF0466 protein C22orf32, mitochondrial;hypothetical protein LOC91689;single-pass membrane protein with aspartate-rich tail 1, mitochondrial APPROVED protein-coding ENSG00000183172 25055 12385 VALIDATED 1345463 SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 17 17 17 p11.2 19159665 19172441 + 18159319 18172095 + 18218594 18231370 + 6480464 15342556;14702039;12477932;11997338;20562859;21139048;21906983;18029348 140775 Q8TEV9 ABBA01009733;AC127537;AF467440;AK092035;AK296847;AMYH01008168;BC001018;BC005067;BC014179;BC040699;BC101115;BC101116;BC101117;BC142680;BP280386;CH471196;CK724925;NM_144775 AAH01018;AAH14179;AAI01117;AAI01118;AAI42681;AAL78337;BAG59413;EAW55644;EAW55645;NP_658988;Q8TEV9 Hs.592944;Hs.707728 2107627;2109837;2166908;2169937 G33160;RH15951;SHMT1_8625;SMCR8__6860 FLJ34716;FLJ60657 OTTHUMP00000065699;Smith-Magenis syndrome chromosomal region candidate gene 8 protein protein-coding 17921 18075 VALIDATED 6769498 SMG1P1 SMG1 pseudogene 1 16 p12.2 22448329 22503541 + 6480464 12477932;15489334;21906983;9039502 641298 Q5BKU6 ABBA01003839;AC106788;AK300040;AL834164;AMYH01007348;BC090929;BX647335;NR_027154 AAH90929;BAG61851;CAD38867;CAH10385;Q5BKU6 Hs.552700 1687724;1749279;2127409;5106365;5109779;5112199;5119156 D16S2541E;D16S2930E;RH102308;RH65949;SHGC-110958;SHGC-32944;SHGC-37696 APPROVED pseudo ENSG00000237296 44186 PROVISIONAL 1602127 SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013] 16 16 p12.3 18723676 18844887 - 18816175 18937726 - 6480464;6907045 11331269;11544179;15175154;16488880;14636577;19417104;18332866;18326048;17229728;16452507;16344560;15279777;14702039;12554878;12477932;12168954;11948212;10737800;10493829;10428027;9566925;9455477;8524286;20427287;20723581;20864032;15231748;19406746;19765550;21245168;18256688;21418860;21701263;21911475;20639865;21987572;21307779;22247495;21139048;21890473;21906983;19322201;18160036;18423202;20371770;21963094;23277562 23049 E9PNP6;H3BPS6;H3BQN7;H3BR09;I3L0C1;I3L0W2;I3L144;I3L400;J3KRA9;Q96Q15 AB007881;AB061371;ABBA01028242;ABBA01028243;ABBA01028244;ABBA01028245;ABBA01028246;ABBA01028247;ABBA01028248;ABBA01028249;AC026472;AC092287;AC138811;AF186377;AF395444;AK025794;AK057563;AK074359;AK123332;AL833298;AMYH01007309;AMYH01007310;AMYH01007311;AMYH01007312;AMYH01007313;AMYH01007314;AW088221;AW503964;AY014957;BC037335;BC047629;BE079340;BF333707;BU633006;CA868047;CH471186;DA433527;DA854035;NM_015092;U32581 AAA86535;AAI56498;AAK00511;AAK58892;AAM73708;BAA24851;BAB70696;EAW50262;NP_055907;Q96Q15 Hs.460179 1342365;1654393;1687724;1716453;1749279;1765789;1773014;1796848;1855147;2127409;5014051;5022651;5022723;5037552;5112199;5114620;5124491 Cda0uf06;D11S2921;D16S3056;D16S3241;D16S3313;D8S2278;D8S2279;RH102308;RH121406;RH65949;RH66032;RH68916;SHGC-110958;SHGC-149218;SHGC-37696;SMG1;SMG1_1253 61E3.4;ATX;KIAA0421;LIP OTTHUMP00000234388;PI-3-kinase-related kinase SMG-1;SMG-1;SMG1 homolog, phosphatidylinositol 3-kinase-related kinase;hSMG-1;lambda-interacting protein;lambda/iota protein kinase C-interacting protein;phosphatidylinositol 3-kinase-related kinase;phosphatidylinositol 3-kinase-related protein kinase;serine/threonine-protein kinase SMG1;smg-1 homolog, phosphatidylinositol 3-kinase-related kinase APPROVED protein-coding ENSG00000157106 30045 06123 607032 REVIEWED 1319189 SMEK1 SMEK homolog 1, suppressor of mek1 (Dictyostelium) 14 14 14 q32.12 71972721 72025463 - 90993708 91046397 - 91923955 91976644 - 6480464 17353931;18487071;16107728;16085932;15489334;15302935;22349239;14702039;18715871;12477932;21423269;20936779;22863883;22939629;20876121;19156129;21139048;21890473 55671 G3V231;G3V4R3;G3V5A2;G3V5Z3;H0YIY8;H0YJN6;Q9NWP1 AB095930;ABBA01030478;ABBA01030479;AF113213;AK000714;AK001885;AK024297;AL133153;AL832921;AMYH01005954;BC018617;BC022778;BC028088;BC038932;BC072409;BM147425;BX248247;CH471061;NM_032560 AAG39284;AAH28088;AAH38932;AAH72409;BAA91338;BAA91960;BAB14877;BAC23106;CAD62575;CAH10634;EAW81452;EAW81453;EAW81454;EAW81455;EAW81456;EAW81457;NP_115949;Q6IN85 Hs.533887 1671480;1687768;1727443;1797114;2115082;2145782;5491505 D14S947;FLJ20707;G35631;G62979;MARC_16316-16317:1017431376:1;RH78410;RH80615 FLFL1;KIAA2010;MSTP033;PP4R3A;smk-1;smk1 OTTHUMP00000245082;OTTHUMP00000245083;OTTHUMP00000245084;OTTHUMP00000245085;OTTHUMP00000245086;serine/threonine-protein phosphatase 4 regulatory subunit 3A protein-coding ENSG00000100796 20219 11176 610351 VALIDATED 1603387 SMEK2 SMEK homolog 2, suppressor of mek1 (Dictyostelium) 2 2 2 p16.1 55615913 55685202 - 55629018 55698253 - 55775514 55844796 - 2300117;6480464 18753676 14702039;17353931;18029348;18614045;16964243;16344560;16107728;16085932;15815621;15616564;15489334;12477932;11230166;10718198;18715871;16169070;22491012;22939629;22863883;19156129;20876121;21139048;22399527 57223 Q5MIZ7 AB037808;ABBA01075270;ABBA01075271;ABBA01075272;AC015982;AK023148;AK026437;AK056036;AK056503;AK296481;AL122106;AL136556;AMYH01010364;AY825268;AY825269;BC006215;BC032531;BC045714;BC060855;CH471053;DA392286;NM_001122964;NM_020463 AAH06215;AAH45714;AAH60855;AAV97750;AAV97751;AAY24270;BAA92625;BAB14430;BAG59121;CAB66491;EAX00090;EAX00091;EAX00092;EAX00093;EAX00094;EAX00095;EAX00096;NP_001116436;NP_065196;Q5MIZ7 Hs.516182 1647429;1667535;1686800;1701314;1797132;1847099;2120356 D2S2860;D3S4227;KIAA1387;RH104286;RH36367;RH64990;SHGC-37373 FLFL2;FLJ31474;KIAA1387;PP4R3B;PSY2;smk1 OTTHUMP00000159688;OTTHUMP00000159689;OTTHUMP00000201233;serine/threonine-protein phosphatase 4 regulatory subunit 3B protein-coding ENSG00000138041 29267 13854 610352 VALIDATED 1603683 SMG5 SMG5 nonsense mediated mRNA decay factor SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008] 1 1 1 q21.2 129291997 129325601 - 154485639 154519244 - 156219015 156252620 - 6480464;6907045 12699629;14636577;16488880;17053788;16809764;16710414;15546618;15489334;14702039;12676087;12477932;12168954;10470851;15721257;21832049;21145460;15824131;19725029;20371770;21963094 23381 Q5SZX1;Q9UPR3 AB029012;AB085691;ABBA01016664;ABBA01016665;AK025988;AK026395;AK027486;AK092183;AL135927;AL137738;AL589685;AMYH01001436;AY168922;AY336728;BC007292;BC007453;BC038296;CH471121;CT000143;NM_015327 AAH07453;AAH38296;AAO17582;AAQ84301;BAA83041;BAB55147;BAC53623;CAH56374;EAW52973;EAW52974;NP_056142;Q9UPR3 Hs.516837 1690252;1851717;2149220 RH27735;SHGC-37183;STS-F04957 EST1B;FLJ12287;FLJ34864;KIAA1089;LPTS-RP1;LPTSRP1;RP11-54H19.7;SMG-5 EST1 telomerase component homolog B;EST1-like protein B;Est1p-like protein B;LPTS interacting protein;LPTS-interacting protein;OTTHUMP00000018886;ever shorter telomeres 1B;hSMG-5;protein SMG5;smg-5 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000198952 24644 16869 610962 VALIDATED 6892987 SMG7-AS1 SMG7 antisense RNA 1 1 q25.3 183430009 183441117 - 6480464 12477932 284649 ABBA01027749;AI793165;AL050020;AL449223;AMYH01001552;BC032873;NR_040063 Hs.127384 1699572 RH103387 DKFZP564C196 miscrna ENSG00000232860 24518 VALIDATED 1320039 SMG6 SMG6 nonsense mediated mRNA decay factor This gene encodes a protein which is part of the telomerase ribonucleoprotein complex and binds single-stranded DNA found at the telomeres, but the product of this gene also participates in the nonsense-mediated mRNA decay (NMD) pathway. The encoded protein contains two binding sites for components of the exon junction complex (EJC); interaction between the encoded protein and the EJC is necessary for NMD activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 17 17 p13.3 1909883 2153819 - 1963133 2207069 - 6480464;6907045 14702039;12699629;16488880;15721257;14636577;19018238;17940095;17557331;17053788;16820686;15489334;12676087;12554878;12477932;12168954;11087658;9872452;19913121;20628086;16344560;19584346;20930030;21378990;18974281;19060897;21145460;21906983;18029348;22011238;16809764;22960999;23319000;23667531;21382349;22504420;22190034 23293 I3L176;I3L1W8;I3L355;I3L390;I3L3A9;I3L421;K7EKV2;K7ELM2;K7ENH7;Q86US8 AB018275;ABBA01054691;ABBA01054692;ABBA01054693;ABBA01054694;ABBA01054695;ABBA01054696;ABBA01054697;ABBA01054698;ABBA01054699;AC090617;AK024131;AK074270;AK302964;AL080204;AL133597;AL450226;AMYH01008008;AMYH01008009;AMYH01008010;AU120859;AY145883;AY168921;BC064916;CH471108;CQ834790;DB333407;NM_001256827;NM_001256828;NM_017575;NR_046385 AAH64916;AAI48374;AAN46114;AAO17581;BAA34452;BAB14835;BAH13860;CAB63733;CAH05610;EAW90559;NP_001243756;NP_001243757;NP_060045;Q86US8 Hs.448342 1341878;1676900;1681602;1729562;1746071;1746081;1776421;1783564;1846835;1856304;2172511;2180113;2190835;5022651 D11S2921;D17S1528;D17S2096;D17S22;G54749;G54750;HIC1;RH36098;RH76358;RH78924;RH80072;SHGC-154919;STS-N29817;WI-11584 C17orf31;EST1A;KIAA0732;SMG-6;hSMG5/7a EST1 telomerase component homolog A;EST1-like protein A;Est1p-like;ever shorter telomeres 1A;hSmg5/7a;smg-6 homolog, nonsense mediated mRNA decay factor;telomerase subunit EST1A;telomerase-binding protein EST1A APPROVED protein-coding ENSG00000070366 17809 06502 610963 VALIDATED 1346186 SMIM11P1 small integral membrane protein 11 pseudogene 1 6 q14.3 86444927 86445786 - 14574404;20379614 100127905 Q5T5W8 ABBA01040478;AL355615;AMYH01016480;NG_012759 Q5T5W8 C6orf161;FAM165A;bA33E24.4 family with sequence similarity 165, member A APPROVED pseudo 21400 INFERRED 6767479 SMIM1 small integral membrane protein 1 1 p36.32 3689352 3692546 + 6480464 12477932;23505126;23563606;23563608 388588 B2RUZ4;H3BS66;M4WDD3 ABBA01073653;AI990490;AL365330;AMYH01000192;BC035379;BC042129;BC146945;BC146957;NM_001163724 B2RUZ4;NP_001157196 Hs.22047 1692012;2140402;5113437 AL033657;RH91403;SHGC-74073 Vel small integral membrane protein 1;uncharacterized protein LOC388588;vel blood group antigen protein-coding ENSG00000235169 44204 615242;615264 VALIDATED 5488264 SMIM10 small integral membrane protein 10 X X q26.3 133950972 133954169 + 134124968 134126503 + 12477932 644538 Q96HG1 AA630048;ABBA01042513;ABBA01042514;AMYH01022997;BC008642;BQ016562;CH471107;NM_001163438;Z83826 AAH08642;EAX11741;NP_001156910;Q96HG1 Hs.42239 1699944;2117779 AL008946;RH103580 CXorf69 hypothetical protein LOC644538;putative uncharacterized protein CXorf69;small integral membrane protein 10 APPROVED protein-coding ENSG00000184785 41913 VALIDATED 1602698 SMG8 SMG8 nonsense mediated mRNA decay factor 17 17 17 q22 53749443 53754683 + 54642153 54647393 + 57287371 57292611 + 6480464 19417104;14702039;12477932;21245168;21139048;21890473;21906983;20371770 55181 J3KTD7;J3QKP6;Q8ND04 ABBA01041366;AC099850;AF349467;AK001449;AK026858;AL834490;AMYH01008517;BC020957;BC031604;CH471109;NM_018149 AAH20957;AAH31604;AAL83913;ADZ15595;BAA91699;BAB15576;CAD39148;EAW94413;EAW94414;EAW94415;NP_060619;Q8ND04 Hs.7296 1665578;1665580;1691726;1734478;1776221;5491689 A006J47;D17S1438E;G20885;G42209;MARC_7919-7920:996688168:1;RH35809 C17orf71;FLJ10587 SMG8 protein;amplified in breast cancer gene 2 protein;protein SMG8;protein smg-8 homolog;smg-8 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000167447 25551 08551 613175 VALIDATED 1606789 SMG9 SMG9 nonsense mediated mRNA decay factor 19 19 19 q13.31 41038878 41062719 - 48927141 48950982 - 44235301 44259142 - 6480464 19417104;11256614;16344560;14702039;12477932;11230166;8889548;21640080;20371770;21963094;23000965 56006 M0QX70;M0QYR7;M0QZC7;M0QZH1;M0R0U0;M0R2N0;Q9H0W8 ABBA01040868;AC004780;AK022948;AK309830;AL136606;AMYH01009840;BC008869;BM981890;CH471126;DA356912;NM_019108 AAC17932;AAH08869;BAB14323;CAB66541;EAW57223;EAW57224;EAW57225;EAW57226;EAW57227;EAW57228;NP_061981;Q9H0W8 Hs.466875 1649912;1668758;2137145 RH46988;STS-F09576;STS-R15751 C19orf61;DKFZp564H1322;F17127_1;FLJ12886 OTTHUMP00000197093;protein SMG9;protein smg-9 homolog;smg-9 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000105771 25763 07800 613176 VALIDATED 1321852 SMG7 SMG7 nonsense mediated mRNA decay factor This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011] 1 1 1 q25 156552563 156634375 + 181708257 181789949 + 183441506 183523328 + 6480464;6907045 14636577;16488880;15721257;17081983;16710414;15546618;15489334;14702039;12699629;12676087;12477932;12168954;11318611;9039502;16169070;16344560;20237496;18029348;16452507;20371770;21963094;21145460;21139048;21890473;21906983;19322201;22505724 9887 B1ALB4;D6R9J3;D6RAD0;E9PBK2;E9PCE5;E9PD50;E9PEK3;Q6TV06;Q8IXC2 AB085674;ABBA01027747;ABBA01027748;ABBA01027749;AK056035;AK074297;AK091477;AK297207;AK299178;AK307394;AL137800;AL355387;AL359876;AL449223;AL833675;AMYH01001552;AY386363;BC009281;BC015788;BC036381;BC052565;BM152501;CH471067;CN479993;D87437;DB223038;DC380923;NG_029808;NM_001174061;NM_173156;NM_201568;NM_201569 AAH36381;AAH52565;AAR25620;BAA13381;BAB71079;BAC03672;BAC53621;BAG59692;BAG61224;EAW91154;EAW91155;EAW91156;EAW91157;EAW91158;EAW91159;NP_001167532;NP_775179;NP_963862;NP_963863;Q92540 Hs.591463 1699572;1712831;1774924;1849021;1855617 AL009653;D1S3351;RH103387;RH120132;SHGC-75977 C1orf16;EST1C;FLJ23717;KIAA0250;SGA56M;SMG-7 EST1 telomerase component homolog C;EST1-like protein C;OTTHUMP00000033159;OTTHUMP00000033244;OTTHUMP00000033245;OTTHUMP00000217155;OTTHUMP00000217156;OTTHUMP00000217157;OTTHUMP00000226607;breast cancer-associated antigen SGA-56M;ever shorter telomeres 1C;protein SMG7;smg-7 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000116698 16792 10723 610964 REVIEWED 7205118 SMIM17 small integral membrane protein 17 19 q13.43 57154527 57168614 + 14702039;21145461 147670 M0R1N7;P0DL12 ABBA01020831;AC007228;AK095199;AMYH01010021;CH471135;NM_001193628 EAW72469;NP_001180557;P0DL12 Hs.336588 5015619;5037552 D11S3114;D8S2279 uncharacterized protein LOC147670 protein-coding 27114 VALIDATED 1606189 SMIM12 small integral membrane protein 12 1 1 1 p34.3 33589547 33599002 - 35091711 35097934 - 35315963 35325417 - 6480464 16303743;12477932;15342556;21906983;19322201 113444 E5RH51;L0R6D7;Q96EX1 ABBA01023361;ABBA01023362;AI467795;AK074853;AL122010;AMYH01000486;BC011880;BC034598;BC064320;BC073851;BC093838;BC107421;BC112231;BG702416;BP234122;BU601949;BX648912;CH471059;CQ782810;HF547981;NM_001164824;NM_001164825;NM_138428 AAH11880;AAH34598;AAH73851;AAH93838;AAI07422;AAI12232;BAC11246;CAF86037;CCO13692;EAX07437;EAX07438;EAX07439;NP_001158296;NP_001158297;NP_612437;Q96EX1 Hs.27160;Hs.661594 1654257;1660789;1674896;1722543;2166854;2178286;5014039;5015961;5016478;5022322;5022463;5037552;5093156;5493129 A009H36;D11S2560;D15S1477;D1S1806E;D1S2371;D22S1584;D3S1673;D8S2279;G32553;G60198;GDB:434012;SGC34142;SHGC-74586;UniSTS:484404 C1orf212;FLJ90372;MGC138436 OTTHUMP00000224962;OTTHUMP00000224964;OTTHUMP00000224965;OTTHUMP00000224966;UPF0767 protein C1orf212;alternative protein C1orf212;hypothetical protein LOC113444;small integral membrane protein 12;uncharacterized protein C1orf212 APPROVED protein-coding 25154 14002 VALIDATED 7204607 SMIM18 small integral membrane protein 18 8 30496117 30503473 + 15885500;20125193;8889548 100507341 P0DKX4 ABBA01023662;AC102945;AC103959;AMYH01018618;BM710955;CH471080;CS072394;DR033682;NM_001206847 CAI93532;EAW63450;NP_001193776;P0DKX4 Hs.659493 1659486;1700398 G36444;RH103819 small integral membrane protein 18;uncharacterized protein LOC100507341 protein-coding ENSG00000253457 42973 VALIDATED 5488847 SMIM2-AS1 SMIM2 antisense RNA 1 13 44716464 44728215 + 100507253 XR_110118;XR_111384 1779522 SHGC-153492 C13orf44-AS1;C3orf81-AS1 APPROVED miscrna 42674 6480969 SMIM2-IT1 SMIM2 intronic transcript 1 (non-protein coding) 13 44720606 44732358 - 100874377 ABBA01021235;AI476676;AL589745;AMYH01005081;NR_046843 Hs.652552 C13orf44-IT1 APPROVED miscrna ENSG00000235285 41492 PREDICTED 5508051 SMIM13 small integral membrane protein 13 6 6 p24.2 11242617 11246957 + 11094266 11138971 + 6480464 12477932 221710 P0DJ93 AA724884;ABBA01022098;ABBA01022099;AK058186;AK299804;AL136139;AMYH01016082;AMYH01016083;BC032356;CH471087;NM_001135575 BAG61679;EAW55298;NP_001129047;P0DJ93 Hs.656600 1664811;1671716;1769091;1793526;2120520;2127984;2128820;2150117;2163002 AL031214;D6S1201E;PMC228468P4;RH12397;RH15828;RH17888;SHGC-33794;STS-N26559;WIAF-1567 C6orf228 OTTHUMP00000244580;UPF0766 protein C6orf228;hypothetical protein LOC221710;small integral membrane protein 13;uncharacterized protein LOC221710 APPROVED protein-coding ENSG00000224531 27356 VALIDATED 2293892 SMIM15 small integral membrane protein 15 5 5 5 q12.1 57394547 57399320 - 60489293 60494059 - 60453536 60458302 - 16344560;12477932 643155 Q7Z3B0 ABBA01015813;AC008498;AK291180;AMYH01015113;BC014242;BC047489;BC066550;BC103711;BC146876;BC146881;BX538015;BX648459;CH471123;DA039277;NM_001048249 AAI46877;AAI46882;BAF83869;CAD97962;EAW55009;NP_001041714;Q7Z3B0 Hs.508479 1663389;2148050;2160518 RH15648;RH35739;SGC31768 C5orf43;DKFZp686E2158;DKFZp686O1385 OTTHUMP00000221665;OTTHUMP00000221666;UPF0542 protein C5orf43;hypothetical protein LOC643155;small integral membrane protein 15 APPROVED protein-coding ENSG00000188725 33861 VALIDATED 1351649 SMIM11 small integral membrane protein 11 21 21 21 q22.12 20947319 20961025 + 34669619 34683322 + 35747749 35761452 + 6480464 15489334;14702039;12477932;12036298;11707072;10830953;7566098;20379614;21832049;19322201 54065 P58511;Q8TCY0 ABBA01057366;AK057880;AK092693;AMYH01012214;AP000320;AP000321;AP000322;AY033902;AY081143;AY081144;BC015596;BC045820;BC064410;BF795619;BI460535;BM989806;CH471079;NM_058182 AAH15596;AAK68720;AAL91137;AAL91138;EAX09785;EAX09786;EAX09787;EAX09788;NP_478062;P58511 Hs.656195 C21orf51;FAM165B OTTHUMP00000108572;OTTHUMP00000108573;chromosome 21 open reading frame 51;family with sequence similarity 165, member B;protein FAM165B;small integral membrane protein 11 APPROVED protein-coding ENSG00000205670 1293 10751 VALIDATED 7246688 SMIM2 small integral membrane protein 2 12477932 79024 Q9BVW6 ABBA01021235;AL589745;AMYH01005081;BC000868;CH471075;NM_024058;XR_159007;XR_159230;XR_172002 AAH00868;EAX08705;NP_076963;Q9BVW6 Hs.534877;Hs.730073 1779522 SHGC-153492 C13orf44 protein-coding ENSG00000139656 28776 VALIDATED 1606130 SMIM14 small integral membrane protein 14 4 4 4 p14 39990340 40078393 - 39228930 39316876 - 39552550 39640481 - 6480464 15231747;15489334;14702039;12477932;17207965;21987572;21890473;21906983;19322201 201895 D6R9U3;D6RDB1;D6RGZ0;Q96QK8 ABBA01004127;ABBA01004128;AC021148;AC105427;AC108471;AK023351;AK307146;AMYH01014119;BC008502;CH471069;NM_174921 AAH08502;ADQ32370;EAW92940;EAW92941;EAW92942;NP_777581;Q96QK8 Hs.576320 1720811;2173878 G16694;G59381 C4orf34;FLJ13289 OTTHUMP00000158733;OTTHUMP00000218412;OTTHUMP00000218413;hypothetical protein LOC201895;small integral membrane protein 14;uncharacterized protein C4orf34 APPROVED protein-coding ENSG00000163683 27321 14129 PROVISIONAL 7247217 SMIM22 small integral membrane protein 22 6480464 12477932 440335 K7EIG5;K7EIH2 AA507469;ABBA01026786;ABBA01026787;AC020663;AMYH01007107;BC022385;BC035868;BC048326;BC148245;BI767985;CK903133;NM_001253790;NM_001253791;NM_001253793;NM_001253794 NP_001240719;NP_001240720;NP_001240722;NP_001240723 Hs.390599 uncharacterized protein LOC440335 protein-coding ENSG00000267795 48329 VALIDATED 1604712 SMIM21 small integral membrane protein 21 18 18 18 q23 69940532 69958268 - 71250815 71268577 - 73121827 73139589 - 14702039;12477932;23568457;22449649 284274 J3KSN8;J9JIF2;Q3B7S5 ABBA01015269;ABBA01015270;AC116003;AK093452;AMYH01009101;BC037871;BC105945;BC107486;CH471117;NM_001037331 AAI07487;EAW66572;NP_001032408;Q3B7S5 Hs.666744 C18orf62;MGC126049 putative uncharacterized protein C18orf62 APPROVED protein-coding 27598 18769 PROVISIONAL 1602660 SMIM19 small integral membrane protein 19 8 8 8 p11.21 41343227 41355088 + 42515913 42527280 + 42396298 42408140 + 6480464 18029348;16344560;15489334;12477932;17207965 114926 E5RII4;E5RKA7;Q96E16 ABBA01021159;AC090739;AK311932;AMYH01018683;AMYH01018684;AMYH01018685;BC013035;BI335341;BI463786;BI549696;CH471080;DA702519;DB519016;NM_001135674;NM_001135675;NM_001135676;NM_138436 AAH13035;ADQ33159;BAG34873;EAW63209;EAW63210;EAW63211;EAW63212;NP_001129146;NP_001129147;NP_001129148;NP_612445;Q96E16 Hs.655320 1665846 A006X27 C8orf40 OTTHUMP00000211404;OTTHUMP00000211405;OTTHUMP00000211406;OTTHUMP00000211407;OTTHUMP00000226072;UPF0697 protein C8orf40;hypothetical protein LOC114926 APPROVED protein-coding ENSG00000176209 25166 14005 VALIDATED 3418804 SMIM20 small integral membrane protein 20 4 4 4 p15.2 26363965 26380057 + 25524626 25540611 + 25915814 25931501 + 6480464 12477932;16344560;22939629;23251661 389203 E5RH91;Q8N5G0 ABBA01032709;AC133961;AMYH01014069;BC006003;BC014348;BC032431;BC040154;BC046171;BC062747;BC086307;C75542;CH471069;DA733575;NM_001145432 AAH06003;AAH32431;EAW92845;NP_001138904;Q8N5G0 Hs.479386 C4orf52 OTTHUMP00000225143;hypothetical protein LOC389203;uncharacterized protein C4orf52 APPROVED protein-coding ENSG00000250317 37260 VALIDATED 5481439 SMIM9 small integral membrane protein 9 X X q28 153704817 153717173 - 154051623 154062937 - 11181995;11329013;15772651;16344560 100132963 A6NGZ8 ABBA01029088;ABBA01029089;AC109993;AMYH01023320;AW072401;BG196890;BX092805;CH471172;DA855214;NG_033065;NM_001162936 A6NGZ8;EAW72650;EAW72651;EAW72652;NP_001156408 Hs.220762 1741047;1798906;1800610;1813968;1816036;1816826;1817600;1823654;1829372;1830126;1834616;1840444;1844860;1845380;1846356;2039638;2039640;2039642;2039644;2039646;2039648;2039650;2039652;2039654;2039656;2039658;2039660;2039662;2039664;2039666;2039668;2039670;2039672;2039674;2039676;2039678;2039680;2039682;2039684;2039686;2039688;2039690;2039692;2039694;2039696;2039698;2039700;2039702;2039704;2039706;2039708;2039710;2039712;2039714;2039716;2039718;2039720;2039722;2039724;2039726;2039728;2039730;2039732;2039734;2039736;2039738;2039740;2039742;2039744;2039746;2039748;2039750;2039752;2039754;2039756;2039758;2039760;2039762;2039764;2039766;2102958;2102960;2102962;2102964;2102966;2102968;2102970;2102972;2102974;2102976;2102978;2155456 ECD00294;ECD01166;ECD08011;ECD09058;ECD09459;ECD09850;ECD12919;ECD15817;ECD16196;ECD18456;ECD21408;ECD23646;ECD23907;ECD24398;GDB:177519;REN90844;REN90845;REN90846;REN90847;REN90848;REN90849;REN90850;REN90851;REN90852;REN90853;REN90854;REN90855;REN90856;REN90857;REN90858;REN90859;REN90860;REN90861;REN90862;REN90863;REN90864;REN90865;REN90866;REN90867;REN90868;REN90869;REN90870;REN90871;REN90872;REN90873;REN90874;REN90875;REN90876;REN90877;REN90878;REN90879;REN90880;REN90881;REN90882;REN90883;REN90884;REN90885;REN90886;REN90887;REN90888;REN90889;REN90890;REN90891;REN90892;REN90893;REN90894;REN90895;REN90896;REN90897;REN90898;REN90899;REN90900;REN90901;REN90902;REN90903;REN90904;REN90905;REN90906;REN90907;REN90908;STS-M14113;stSG604316;stSG604317;stSG604318;stSG604319;stSG604320;stSG604323;stSG604324;stSG604325;stSG604326;stSG604327;stSG604328 CXorf68 OTTHUMP00000026048;hypothetical protein LOC100132963;small integral membrane protein 9;uncharacterized protein CXorf68 APPROVED protein-coding ENSG00000203870 41915 VALIDATED 7204969 SMKR1 small lysine-rich protein 1 7 q32.1 129142320 129152773 + 100287482 H3BMG3;H3BQK7 AACC02000035;ABBA01057635;AC009244;AF086124;AMYH01017931;BC035417;BC050400;CH236950;NM_001195243 H3BMG3;NP_001182172 Hs.178144 1690520 RH94383 small lysine-rich protein 1 protein-coding ENSG00000240204 43561 PROVISIONAL 1605605 SMIM3 small integral membrane protein 3 5 5 5 q33.1 146238857 146257646 + 150138060 150156491 + 150157508 150176298 + 6480464 16189514;15489334;12477932;11288140 85027 Q7Z4C3;Q9BZL3 ABBA01026271;AC010441;AF313413;AK027847;AK125286;AMYH01015710;BC009719;BC101838;BC101840;BC106040;BG911744;CH471062;NM_032947 AAG53959;AAH09719;AAI01839;AAI01841;AAI06041;BAC86114;EAW61705;NP_116565;Q9BZL3 Hs.29444 1780826;2116586 1728;bac52321T C5orf62;MGC117221;MGC126887;MGC126889;MST150;NID67 NGF-induced differentiation clone 67 protein;OTTHUMP00000224492;putative small membrane protein NID67;small integral membrane protein 3;small membrane protein NID67 APPROVED protein-coding ENSG00000256235 30248 12212 608324 VALIDATED 5134215 SMIM6 small integral membrane protein 6 17 17 70232732 70234143 + 73642646 73644057 + 11181995;12477932 100130933 P0DI80 ABBA01028776;AC087749;AI167865;AK131023;AL041162;AMYH01008635;BC062771;CH471099;CS072343;NG_029617;NM_001162997 CAI93481;EAW89297;NP_001156469;P0DI80 Hs.662541 1697944 RH102501 C17orf110;FLJ27513 hypothetical protein LOC100130933;putative uncharacterized protein C17orf110;small integral membrane protein 6 APPROVED protein-coding ENSG00000259120 40032 VALIDATED 5132337 SMIM5 small integral membrane protein 5 17 17 17 q25.1 70219600 70227572 + 71140850 71149081 + 73629514 73637486 + 12107410;12477932;14702039 643008 Q71RC9 ABBA01028776;AC087749;AF370408;AK055768;AL832643;AMYH01008635;BC027861;BC146918;BC146923;BI712658;CA388654;CA413024;CH471099;NG_029617;NM_001162995;NR_028439 AAQ15244;EAW89296;NP_001156467;Q71RC9 Hs.528605 C17orf109;DKFZp451K2118;FLJ31206;PP12104 OTTHUMP00000237168;hypothetical protein LOC643008;small integral membrane protein 5;uncharacterized protein C17orf109 APPROVED protein-coding ENSG00000204323 40030 VALIDATED 1601966 SMIM7 small integral membrane protein 7 19 19 19 p13.11 16658798 16672807 - 16617959 16631968 - 16756959 16770968 - 6480464 12477932;21139048;19322201 79086 B7WNH4;E9PLH2;E9PNA8;E9PP42;M0R0R3;Q9BQ49 ABBA01051153;AC024075;AK025602;AL702263;AMYH01009564;BC001680;BC001948;BC069279;BX648276;CH471106;NM_024104 EAW84555;EAW84556;EAW84557;EAW84558;NP_077009;Q9BQ49 Hs.356467 1662361;1664736;1675660;1686867;2159384;2174168;5015619;5015861;5015961;5016851;5017170;7185938 D10S16;D11S3114;D15S1477;G30986;L29953;RH80031;RH80737;RH98555;SHGC-57818;STS-H96900;STS-T91964 C19orf42;MGC2747 OTTHUMP00000195061;OTTHUMP00000195062;OTTHUMP00000233381;OTTHUMP00000233382;OTTHUMP00000233383;UPF0608 protein C19orf42;hypothetical protein LOC79086;small integral membrane protein 7 APPROVED protein-coding 28419 14525 VALIDATED 1603140 SMIM4 small integral membrane protein 4 3 3 3 p21.1 52550126 52554091 + 52543954 52549863 + 52570621 52574586 + 6480464 14702039;12477932;8889548 440957 C9JAX8;F8W7Q2;Q8WVI0 ABBA01024505;AC112215;AK095910;AMYH01013186;BC017996;BG031013;BM674004;CH471055;NM_001124767 AAH17996;EAW65238;NP_001118239;Q8WVI0 Hs.660577 1681642 RH93758 C3orf78 OTTHUMP00000213339;OTTHUMP00000213340;UPF0640 protein C3orf78;hypothetical protein LOC440957;small integral membrane protein 4;small nucleolar rna host gene (non-protein coding) 8 APPROVED protein-coding 37257 VALIDATED 7205347 SMLR1 small leucine-rich protein 1 6 q23.1 131148545 131158275 + 12477932;14702039;8889549 100507203 H3BR10 ABBA01025899;AI247685;AK091900;AL109938;AMYH01016673;BC101422;BC101423;BC101424;BC101425;BC113026;BC113027;BX095531;NM_001195597;T54915 H3BR10;NP_001182526 Hs.388715 1644207;1674869;1674871;1689875;1854236;2148896;2185203;5092696 A005Q25;D6S1156E;D6S1877;D6S2129;G32271;RH64862;STS-H49563;WI-18727 small leucine-rich protein 1;uncharacterized protein LOC100507203 protein-coding ENSG00000256162 44670 VALIDATED 1313022 SMIM8 small integral membrane protein 8 6 6 6 q15 88450980 88470715 + 88089025 88108762 + 88032306 88052043 + 6480464 16344560;15489334;14574404;12477932;17207965 57150 Q96KF7 ABBA01040492;AF311339;AI681117;AJ420558;AK311963;AL050201;AL096817;AMYH01016493;BC070260;BG534658;CH471051;DA293899;NM_001042493;NM_020425 AAH70260;AAK38513;ADQ32012;BAG34903;EAW48601;EAW48602;EAW48603;NP_001035958;NP_065158;Q96KF7 Hs.70769 1698094;2147791;2150425 RH102579;RH47881;STS-N24194 C6orf162;DKFZp586E1923;dJ102H19.2 OTTHUMP00000016828;UPF0708 protein C6orf162;hypothetical protein LOC57150;small integral membrane protein 8 APPROVED protein-coding ENSG00000111850 21401 12862 VALIDATED 733306 SMO smoothened, frizzled family receptor The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010] 7 7 q32.3 128615949 128640622 + 128828713 128853386 + 704355;1580863;2324978;2324982;2324983;2324981;2324910;2324992;5510013;5510026;6480464;6484113;6907045 9422511;19460966;20071678;20062892;16826192;19396459;16197497;20716670;20635334 9628830;9581815;8906787;19453261;19432668;19401682;19351817;19304771;19237606;18543049;18502968;18359851;16945339;16867986;16804411;16339184;15618519;15489334;12773389;12690205;12499255;12477932;12241103;12192414;12165511;12123571;11748145;11042037;9811851;9799615;9764827;22864913;8898207;21338440;16344560;20561215;17884791;19473442;19564910;19726788;19730683;20050020;20067614;20215540;20603613;20819778;19592253;20937227;22901214;17850284;21757753;23063129;23098507;21210262;16147992;11278759;22114142;22231273;22253573;22535603;23636324;23508962;23334667;23349881;22486854;23341351;23348505 6608 A4D1K5;H7C509;H7C5S9;Q99835 AACC02000035;AB065574;ABBA01057642;AC011005;AF071494;AF089720;AF114821;AF120103;AF130867;AMYH01017928;AMYH01017929;AU132302;BC004332;BC009989;CH236950;CH471070;NG_023340;NM_005631;U84401 AAB41788;AAC24863;AAD17202;AAD28625;AAF31757;AAH09989;ABM87646;BAC05807;EAL24102;EAW83715;NP_005622;Q99835 Hs.437846 1694840;1796850;2126653;2134992;2191257 MARC_16819-16820:1021560442:1;RH121944;RH12557;RH16231;SMO_853 FZD11;Gx;SMOH OTTHUMP00000212929;frizzled family member 11;protein Gx;seven transmembrane helix receptor;smoothened homolog;smoothened, seven transmembrane spanning receptor APPROVED protein-coding ENSG00000128602 11119 03294 601500 REVIEWED 1348217 SMOC1 SPARC related modular calcium binding 1 This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 14 14 14 q24.2 50410240 50563191 + 69415896 69568836 + 70346114 70499083 + 1331355;6480464 12130637 17386346;15489334;12508121;12477932;20359165;21194678;21194680;16344560;22863883;21349332;21750680;23088713;23222517;23263445 64093 Q9H4F8 ABBA01030824;ABBA01030825;AJ249900;AK098441;AK289988;AK313063;AL135747;AL157789;AMYH01005826;BC008608;BC011548;BQ183777;BX110623;CH471061;DA805236;NG_028217;NM_001034852;NM_022137 AAH08608;AAH11548;ABM82709;ABM85893;BAF82677;BAG35892;CAC10352;EAW81013;EAW81014;EAW81015;EAW81016;NP_001030024;NP_071420;Q9H4F8 Hs.497349 1340652;1341015;1677268;1700232;1705594;1707058;1708964;1713653;1722717;2181498 D14S1029;D14S580;G60444;RH103733;RH120708;RH70356;RH99058;SHGC-79541;SHGC-81284;SHGC-83905 OAS OTTHUMP00000245522;OTTHUMP00000245523;SMOC-1;SPARC-related modular calcium-binding protein 1;secreted modular calcium-binding protein 1 APPROVED protein-coding ENSG00000198732 20318 12244 206920;608488 REVIEWED 736439 SMN1 survival of motor neuron 1, telomeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] 5 5 q13.2 70256524 70284593 + 70220768 70248839 + 1358253;1358254;6480464;7240710 10942426;11303798 7552146;15119481;14972554;14749338;14742439;14715275;14697339;14520560;12975319;12878704;12679382;12668731;12663808;12657835;12477932;12459587;12374765;12361597;12221125;12192051;12095920;12067652;12065586;12021369;11996521;11992267;11935338;11907229;11875052;11835381;19625283;19538222;19480685;19351384;19271042;19244360;19215052;19198020;19179398;19154529;19134255;19103745;19050931;18974562;18752447;18703124;18651653;18633133;18546169;18533950;18337729;18332255;18269687;18172693;18093976;18071605;17850955;17682539;17635841;17625510;17592254;17585203;17475491;17415510;17392705;17250498;17250497;17081983;17049859;17023415;16936383;16931506;16845275;16786553;16651888;16617248;16565220;16481599;16449646;16439605;16331551;16189514;16169070;16118268;16093455;15832310;15726222;15608400;15580564;15526170;15489334;15459957;15372022;15345747;15304326;15249625;15222879;11792806;11791208;11773003;11748230;11720283;11714716;11713266;11704667;11641277;11574476;11551898;11522829;11509230;11448987;11438536;11313744;11149922;11135666;11092763;10851237;10767334;10734235;10732817;10732802;10725331;10601333;10369862;10339583;10205267;9845364;9837824;9818944;9600994;9503025;9389483;9323129;9302277;9259265;9158159;9147655;8922999;8838816;8808598;8670859;7813012;7639755;7581461;22197680;22607171;22824686;22323753;11914277;15494309;20515750;20620147;20637152;17218272;20696395;20563565;15337310;16087681;20947812;21055263;19596235;19628962;19648294;19735367;19922137;19997741;20090376;20188701;20197730;20373854;20442745;21462119;21233719;20659551;21082361;22454514;22939629;21826391;22994313;23112048;21209906;21496457;21364876;19928837;21172665;21338334;21785216;22884440;22990118;23221635;21732698;21482919;18624398;20713032;21610747;21900206;21300694;21333717;21956898;21672919;21693563;21335981;21920940;21963094;22118674;21631299;22101937;22124016;21924051;22161088;21705024;22324632;20301526;22085534;22363433;22318606;23185376;21145461;22669976;23136128;23455922;23455924;23615451;23752268;23398456;19447967;21565611;21890473;21906983;22190034;22365833;23000965;23246001;23438482;17916631 6606 B4DP61;E7EQZ4;H0YBZ9;Q16637 ABBA01112812;ABBA01150078;AC005031;AC044797;AC139494;AC139834;AF092925;AK298203;AMYH01015400;BC062723;JQ657798;JQ657799;JQ657800;JQ657801;JQ657802;JQ657803;JQ732166;JQ732167;JQ745297;NG_008691;NM_000344;NM_022874;U18423;U43883;U80017 AAA66242;AAC50473;AAC52048;AAC62262;AAD37484;AAH62723;ABM85021;ABW03675;AFK09761;AFK09762;AFK09763;AFK09764;AFK09765;AFK09766;AFM22704;AFM68922;AFM68923;BAG60473;NP_000335;NP_075012;Q16637 Hs.535788 1643786;1734312;1743523;1743525;1768776;1768778;1790299;2112540;2112542;2172047;2172049 A006I11;D5F150S1;D5F151S1;D5S1556;D5S1946;D5S2463;D5S2797;D5S2798;G20836;SMN1;STS-U18423 BCD541;GEMIN1;SMA;SMA1;SMA2;SMA3;SMA4;SMA@;SMN;SMN2;SMNT;T-BCD541;TDRD16A OTTHUMP00000125198;OTTHUMP00000223567;OTTHUMP00000223568;OTTHUMP00000224066;OTTHUMP00000226924;component of gems 1;gemin 1;gemin-1;survival motor neuron;survival motor neuron 1 protein;survival motor neuron protein;tudor domain containing 16A APPROVED protein-coding ENSG00000172062 11117 02646 253300;253400;253550;271150;600354 REVIEWED 1319332 SMNDC1 survival motor neuron domain containing 1 This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008] 10 10 10 q23 105784468 105796377 - 112042788 112054687 - 112052798 112064707 - 1580863;6480464;6907045 9731529;15494309;17353931;9817934;18211889;16964243;15635413;15489334;12477932;11331595;11331295;21145461;12234937;16385451;20028739;22939629;21172665;17332742;22365833;19322201;22101937;21139048;20301526;22363433 10285 O75940 ABBA01063032;AF083385;AF107463;AK314013;AL360182;AMYH01003062;BC011234;BC039110;BQ694303;CH471066;NG_008284;NM_005871 AAC64086;AAC84148;AAH11234;BAG36724;EAW49561;EAW49562;EAW49563;EAW49564;NP_005862;O75940 Hs.632093 2108937 SMNDC1_9083 SMNR;SPF30;TDRD16C 30 kDa splicing factor SMNrp;OTTHUMP00000020474;OTTHUMP00000020475;SMN-related protein;splicing factor 30, survival of motor neuron-related;survival motor neuron domain-containing protein 1;survival of motor neuron-related-splicing factor 30;tudor domain containing 16C APPROVED protein-coding ENSG00000119953 16900 04627 603519 REVIEWED 1606833 SMN2 survival of motor neuron 2, centromeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] 5 5 q13.2 69381106 69409175 + 69345350 69373422 + 6480464;7240710 22085534;11714716;17023415;8670859;15130578;9323129;9845364;10531003;19397406;19329542;19287802;19271042;19244360;19154529;19134255;18971205;18941511;18842367;18794368;18703504;18703124;18662980;18546169;18492800;17924536;17884807;17850955;17761657;17592254;17585203;17505471;17475491;17407069;17307868;17250497;17081983;17049859;16931506;16845275;16565220;16481599;16449646;16439605;16093455;15944201;15852397;15832310;15790598;15772088;15580564;15489334;15372022;15305106;15304326;15162126;15146197;14766219;12915451;12833158;12642665;12477932;12370479;12095920;12067652;12065586;11993528;11925564;11875052;11839954;11835381;11791208;11574476;11551898;11509230;11149922;11135666;10942426;10732817;10732802;10556282;10369862;10205267;9837824;9503025;9259265;9158159;9147655;8889549;21145461;8838816;8808598;7813012;7639755;7552146;17353931;20515750;20739549;10601333;10734235;10851237;11092763;11438536;11448987;11641277;11704667;11720283;11748230;11773003;12361597;12975319;14715275;15494309;15848170;16087681;16169070;16189514;19603064;19628962;19648294;19716110;19760790;19922137;19953646;20186123;20197730;20442745;9389483;20563565;20826664;20947812;20577007;21189287;20884664;20659551;21120954;22082206;22939629;22750651;22884440;18984161;21762474;22187232;21925145;21979052;21890473;21906983;22190034;19447967;23000965;21821450;21963094;22118674;22607171;21705024;20301526;22274580;22558076;21548796;22763238;23185376 6607 B4DP61;E7EQZ4;Q16637 AA029652;AC004999;AC140134;AF187725;AI312583;AK289669;AMYH01015399;BC000908;BC015308;BC070242;CN272420;JQ690861;JQ690862;JQ690863;JQ690864;JQ690865;JQ690866;NG_008728;NM_017411;NM_022875;NM_022876;NM_022877;U21914 AAA64505;AAC83178;AAH00908;AAH15308;AAH70242;ABM82472;ABM85660;ABW03676;AFJ92627;AFJ92628;AFJ92629;AFJ92630;AFJ92631;AFJ92632;BAF82358;NP_059107;NP_075013;NP_075014;NP_075015;Q16637 Hs.202179 1643786;1734312;1743523;1743525;1768776;1768778;1790299;2112540;2112542;2172047;2172049 A006I11;D5F150S1;D5F151S1;D5S1556;D5S1946;D5S2463;D5S2797;D5S2798;G20836;SMN1;STS-U18423 BCD541;C-BCD541;FLJ76644;GEMIN1;MGC20996;MGC5208;SMN1;SMNC;TDRD16B OTTHUMP00000125236;OTTHUMP00000125237;OTTHUMP00000221943;OTTHUMP00000221944;component of gems 1;gemin 1;gemin-1;survival motor neuron protein;tudor domain containing 16B APPROVED protein-coding ENSG00000205571 11118 09036 253400;601627 REVIEWED 5129249 SMPD4P1 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1 22 22 22 q11.21 4450199 4472530 - 19284586 19312870 - 20959274 20981606 - 645280 ABBA01015451;AC007050;AMYH01012536;CH471176;NG_028286 EAX02946 2149211;7184988 D22S1138 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1 pseudo 39673 INFERRED 5129246 SMPD4P2 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 2 13 13 13 q12.11 787543 807477 - 18623607 18643541 - 19725607 19745541 - 441654 ABBA01068549;ABBA01068550;AL139327;AMYH01004934;NG_011395 pseudo 39674 INFERRED 1315436 SMOC2 SPARC related modular calcium binding 2 This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 6 6 6 q27 169559437 169782279 + 168584880 168810596 + 168841831 169068674 + 625567;6480464;7240710 12031507 17204727;16774925;15489334;14702039;14574404;12741954;12477932;19890347;20379614;19759913;20965805;22152679 64094 H0Y3J4;H0Y5I1;Q9H1L4 AB014730;AB014737;ABBA01000394;ABBA01000395;ABBA01000396;ABBA01000397;ABBA01000398;AF173892;AF176778;AI032288;AJ249902;AJ420521;AK056700;AK297839;AK314613;AK315920;AL109940;AL136099;AL138918;AL391319;AL442124;AL832303;AMYH01016870;AMYH01016871;AMYH01016872;AMYH01016873;BC028420;BC047583;CH471051;NG_032781;NM_001166412;NM_022138 AAH28420;AAH47583;AAQ13639;AAQ13656;BAB20267;BAB20274;BAG51789;BAG60173;BAH14291;CAC10353;CAI46175;EAW47461;EAW47462;EAW47463;EAW47464;NP_001159884;NP_071421;Q9H3U7 Hs.487200 1338198;1653444;1721347;1757339;1766631;1777051;2107629;2127369;2142430 D6S386;D6S992;G59673;RH45190;RH70362;SHGC-144743;SHGC-149927;SMOC2__6864;WI-13584 DTDP1;MST117;MSTP117;MSTP140;RP11-270C4__A.1;SMAP2;SMOC-2;bA270C4A.1;bA37D8.1;dJ421D16.1 OTTHUMP00000017665;OTTHUMP00000017666;SMAP-2;SMOC-2;SPARC-related modular calcium-binding protein 2;secreted modular calcium-binding protein 2;smooth muscle associated protein 2;smooth muscle-associated protein 2;thyroglobulin type-1 repeat containing protein APPROVED protein-coding ENSG00000112562 20323 06244 125400;607223 REVIEWED 1314443 SMOX spermine oxidase Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012] 20 20 p13 4077450 4116369 + 4129426 4168394 + 6480464;7244190;7244193 15541750;13678416 18422650;18302221;16207710;15489334;15221502;14764092;14702039;12975309;12727196;12477932;12458219;12398765;12141946;11780052;11454677;3181599;12798;20127992;19165232;19727732;20000632;20379614;20059804;21152090;20946629;21839041;21906983;20881960;12477380;18029348 54498 Q5TE25;Q9NPY2 ABBA01053848;ABBA01053849;AF519179;AK000753;AK025938;AK127286;AK293485;AL121675;AL162058;AMYH01011682;AMYH01011683;AW136764;AY033889;AY033890;AY033891;AY358104;BC000669;BG480614;BG679874;CH471133;EF032141;NM_001270691;NM_175839;NM_175840;NM_175841;NM_175842;U61836 AAH00669;AAK55763;AAK55764;AAK55765;AAN77119;AAQ88471;ABM01872;BAA91360;BAB15288;BAG56974;CAB82396;EAX10457;EAX10458;EAX10459;EAX10460;EAX10461;EAX10462;EAX10463;NP_001257620;NP_787033;NP_787034;NP_787035;NP_787036;Q9NWM0 Hs.433337 2109863;2175804;5093410 A009O14;G32702;SMOX_9791 C20orf16;FLJ20746;MGC1010;PAO;PAO-1;PAOH1;SMO OTTHUMP00000030155;OTTHUMP00000030156;OTTHUMP00000030157;OTTHUMP00000030158;OTTHUMP00000161031;OTTHUMP00000161032;PAO-1;flavin containing amine oxidase;flavin-containing spermine oxidase;polyamine oxidase 1;putative cyclin G1 interacting protein;spermine oxidase APPROVED protein-coding ENSG00000088826 15862 11587 REVIEWED 1349414 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] 11 11 p15.4-p15.1 6368231 6372802 + 6411644 6416228 + 1601336;1601345;1601347;1580863;6480464;6484113;6907045;7240710 12556236;17259995;14983401 18052040;17698617;17381401;16787399;16642440;16472269;16245071;16051685;16010684;15997205;15888438;15877209;15849201;15769735;15743760;15383576;15241805;15221801;15175033;12953170;12815059;12801930;12631268;12477932;12369017;12208520;11788605;11001565;9030779;8889548;8693491;8680412;8664904;8407868;8051942;2555181;2023926;2004772;1885770;1840600;1740330;1711683;1618760;1391960;1301192;1292508;15509740;1718266;7670466;19300439;19059331;19054571;19050888;18815062;18628757;18426979;18264947;18088425;9110068;19913121;20628086;20386867;20956541;19860808;22771321;22824271;11238738;19405096;19817993;19878569;20807762;21153367;21294641;21098024;22906436;19279008;19279011;21335555;22558155;21900206;22613662;20137294;19322201;22573858;20301544;22879933;23356216;22890197;23535491;17344303 6609 E7EWE2;E9PL59;E9PPK6;E9PQT3;G3V1E1;G3XAB5;H0YEP5;P17405;Q59EN6 AA746054;AB209775;ABBA01028667;AC068733;AK292388;AMYH01003366;AY649987;BC041164;BI599208;BM686561;BU845962;CH471064;HQ132745;HQ132746;HQ132747;HQ132748;M59916;M59917;M81780;NG_011780;NM_000543;NM_001007593;X52678;X52679;X59960;X63600 AAA58377;AAA58378;AAA75008;AAA75009;AAH41164;AAV68198;ADW08999;ADW09000;ADW09001;ADW09002;BAD93012;BAF85077;CAA36901;CAA36902;CAA42584;CAA45145;EAW68726;EAW68727;EAW68728;EAW68729;NP_000534;NP_001007594;P17405 Hs.498173 1742579;1774032;1796852;1850059;1855929;2152808;2180012 A002D29;D11S4426;GDB:197904;RH69187;SMPD1;SMPD1_855;STS-M81780 ASM;ASMASE;NPD OTTHUMP00000229836;OTTHUMP00000232789;aSMase;acid sphingomyelinase;sphingomyelin phosphodiesterase APPROVED protein-coding ENSG00000166311 11120 06353 257200;607608;607616 REVIEWED 1347416 SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 16 16 q22.1 66949731 67039905 - 68392230 68482409 - 1580863;6480464;6484113;6907045 20106976;10823942;18299447;17349629;17085432;16631623;16517606;15489334;15051724;14741383;12566438;12477932;12417987;15509740;19913121;20628086;19698806;19735728;23439645;21536668;21303347;21708940;22082680;22114277 55512 A8K0T6;B7ZL82;H3BS51;H3BTM0;I3L228;Q9NY59 AA461272;ABBA01025484;ABBA01025485;ABBA01025486;AC099521;AJ250460;AK026246;AK289651;AL157660;AMYH01007756;AW163364;BC012727;BC041828;BC112238;BC143631;BC143634;BI196095;CA424980;CB268111;CH471092;DQ424899;JA738549;NM_018667 AAI12239;AAI43632;AAI43635;ABD83664;ADR83107;BAB15409;BAF82340;CAB92964;CCF76927;EAW83233;NP_061137;Q9NY59 Hs.368421 1691268;1719255;1722007;2135200;2173854;5024914 G59890;RH123348;RH48608;RH92696;SHGC-61160;Smpd3 FLJ22593;MGC138443;NSMASE2 OTTHUMP00000174866;nSMase-2;neutral sphingomyelinase 2;neutral sphingomyelinase II;sphingomyelin phosphodiesterase 3 protein-coding ENSG00000103056 14240 16154 605777 VALIDATED 1347939 SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A 6 6 6 q22.31 123854285 123875174 + 123152123 123172564 + 123109971 123130865 + 1580863;6480464 14574404;22810003;12442002;16344560;15489334;12477932 10924 B7Z729;Q92484 ABBA01025981;AK000184;AK301365;AL732431;AMYH01016636;BC018999;BC066591;CH471051;DA510600;DC414598;NM_006714;Y08136 AAH18999;ABM83133;ABM86328;BAH13465;CAA69330;EAW48163;EAW48164;NP_006705;Q92484 Hs.486357 1644742;1758389;2109865;5017667 RH70964;SHGC-148224;SMPDL3A;SMPDL3A_9196 ASM3A;ASML3a;FLJ20177;yR36GH4.1 0610010C24Rik;ASM-like phosphodiesterase 3a;OTTHUMP00000017120;acid sphingomyelinase-like phosphodiesterase 3a protein-coding ENSG00000172594 17389 10244 610728 VALIDATED 732430 SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009] 6 6 q21 109868624 109871815 + 109761931 109765122 + 1580863;6480464;6484113;6907045 17272284;9520418;18391951;18040843;17212982;16344560;15489334;15175033;15051724;12477932;10608884;8889548;15509740;19913121;20628086;11238738;11997500;12566438;12676795;14689449;15013522;17449104;19698806;19817993;19834535;20836852;20378749;17207965;20448054;21335555;21906983;17344303;22899568 6610 H0Y5N2;O60906 ABBA01026126;AJ222801;AK310148;AK313515;AL109947;AMYH01016583;BC000038;CA314251;CH471051;DA672570;NM_003080 AAH00038;ABM82805;ADQ32367;BAG36295;CAA10995;EAW48346;NP_003071;O60906 Hs.55235 2218038 SMPD2_2808 ISC1;NSMASE;NSMASE1 N-SMase;OTTHUMP00000016965;lyso-PAF-PLC;lyso-platelet-activating factor-phospholipase C;neutral sphingomyelinase;sphingomyelin phosphodiesterase 2 APPROVED protein-coding ENSG00000135587 11121 04608 603498 VALIDATED 1316663 SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 1 1 1 p35.3 26657114 26681282 + 28134091 28158250 + 28261504 28285663 + 1580863;6480464 16710414;15489334;12477932;16712791;23322567;23398456 27293 B4DE65;F8VWW8;F8VXS3;Q5T0Y8;Q92485 ABBA01035006;AK293489;AK293566;AK301349;AK316500;AL512288;AMYH01000425;BC014444;BQ011468;BX389470;CB160850;CH471059;NM_001009568;NM_014474;Y08134 AAH14444;BAG56976;BAG57037;BAG62896;BAH14871;CAA69328;EAX07721;EAX07722;EAX07723;NP_001009568;NP_055289;Q92485 Hs.123659 1774435 SHGC-74460 ASML3B ASM-like phosphodiesterase 3b;OTTHUMP00000004004;OTTHUMP00000004005;OTTHUMP00000004006;OTTHUMP00000241359;acid sphingomyelinase-like phosphodiesterase 3b protein-coding ENSG00000130768 21416 15405 VALIDATED 1601815 SMTNL1 smoothelin-like 1 SMTNL1, which is a member of the smoothelin (SMTN; MIM 602127) family, regulates contraction and relaxation of skeletal and smooth muscle fibers and mediates vascular adaptation to exercise (Wooldridge et al., 2008 [PubMed 18310078]).[supplied by OMIM, Dec 2010] 11 11 11 q12.1 54666633 54674266 + 57065555 57074684 + 57310114 57317747 + 6480464 15327999;8889549;18310078;20634291;21352594 219537 A8MU46;C9J621;E9PPJ3 ABBA01021474;AMYH01003652;AP002893;NM_001105565 A8MU46;AAI72381;NP_001099035 Hs.68756 1655790;1854741;5092978 A009D26;G32448;RH65714 CHASM OTTHUMP00000235021;calponin homology-associated smooth muscle protein;smoothelin-like protein 1 APPROVED protein-coding ENSG00000214872 32394 613664 PROVISIONAL 1349580 SMR3A submaxillary gland androgen regulated protein 3A 4 4 4 q13.3 68584242 68590573 + 71261082 71267412 + 71226493 71232823 + 6480464 9354371;17512016;12477932;18410445;15851553 26952 Q99954 ABBA01022926;AC106884;AK312075;AMYH01014276;BC140927;CA946421;CD722466;CD722957;CH471057;D89501;NM_012390 AAI40928;BAA13971;BAG35011;EAX05618;NP_036522;Q99954 Hs.701334 2124381;2170573 SHGC-35364;SHGC-67927 P-B1;PBI;PRL5;PROL5 OTTHUMP00000219116;proline rich 5 (salivary);proline- rich protein 5;proline-rich protein 5;proline-rich protein PBI;protein homologous to salivary proline-rich protein P-B;submaxillary gland androgen regulated protein 3 homolog A;submaxillary gland androgen-regulated protein 3A protein-coding ENSG00000109208 19216 18077 VALIDATED 1604348 SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008] 2 2 2 q21.1 124183727 124215108 - 130625450 130656164 - 130908965 130940323 - 6480464;6907045 15231747;16517606;18505924;16344560;15815621;15489334;14702039;12477932;11230166;10718198;21145461;9110174;8889549;8619474;15509740;17353931;19913121;20628086;19698806;21987572;21139048;21890473;21906983 55627 B1PBA3;B4DM23;B4DQ31;B4DWK7;B4E0L6;C9J647;F2Z2I0;F2Z2W5;F8WEQ5;F8WF03;G8JLC4;H7BXF4;H7C0W5;H7C1Q6;H7C235;H7C2E2;H7C2J2;Q9NWL2 AA232420;AB037839;ABBA01017941;ABBA01017942;ABBA01017943;ABBA01017944;AC018804;AF052134;AI393912;AK000304;AK000763;AK001227;AK056501;AK126920;AK297257;AK298609;AK299185;AK301576;AK303427;AK303519;AL136737;AMYH01011051;BC040941;BC064947;CH471263;CR533550;DA797873;DB137488;EU367941;NM_001171083;NM_017751;NM_017951;NR_033230;NR_033231;NR_033232 AAH64947;AAY14883;ACA48221;BAA91070;BAA91368;BAA91567;BAA92656;BAC86751;BAG59735;BAG60793;BAG61230;BAG63069;BAG64478;BAG64547;CAB66671;CAG38581;EAW55597;EAW55598;EAW55599;EAW55600;EAW55601;NP_001164554;NP_060221;NP_060421;Q9NXE4 Hs.516450 1657062;1725603;2153003 A005N47;G62090;UniSTS:48762 FLJ20297;FLJ20756;KIAA1418;NET13;NSMASE3;nSMase-3 OTTHUMP00000162391;OTTHUMP00000162392;OTTHUMP00000190862;SKNY protein;neutral sphingomyelinase 3;neutral sphingomyelinase III;sphingomyelin phosphodiesterase 4 APPROVED protein-coding ENSG00000136699 32949 13374 610457 VALIDATED 736270 SMPX small muscle protein, X-linked This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011] X X X p22.1 25845385 25897515 - 21634012 21686151 - 21724090 21776278 - 1580863;6480464;7240710 10598820;15489334;12477932;11401441;21549336;21549342;22911656;21893181;8889548;20301607 23676 Q9UHP9 ABBA01071990;ABBA01071991;ABBA01071992;ABBA01071993;ABBA01071994;ABBA01071995;ABBA01071996;AF129505;AJ250584;AK312134;AL772370;AL772392;AMYH01022139;BC005948;BF126275;BM674432;CH471074;NG_031916;NM_014332;NR_045617 AAF19343;AAH05948;BAG35070;CAC08492;EAW98980;EAW98981;NP_055147;Q9UHP9 Hs.734084;Hs.86492 1702866;1850142;1856062 DXS365;DXS8331;RH41821 DFNX4 OTTHUMP00000023044;small muscular protein;stretch-responsive skeletal muscle protein APPROVED protein-coding ENSG00000091482 11122 02204 300066;300226 REVIEWED 1345383 SMR3B submaxillary gland androgen regulated protein 3B 4 4 4 q13.3 68606545 68613711 + 71283384 71290550 + 71248795 71255961 + 7982889;15489334;12477932;10731710;1747107;479131;22145905;21628590 10879 P02814;Q504X8 AB031740;ABBA01022926;AC106884;AMYH01014276;BC015327;BC094707;BC144529;BX487896;CB958582;CH471057;D29833;NM_006685 AAH15327;AAH94707;AAI44530;ADZ15370;BAA06213;BAA88517;EAX05619;NP_006676;P02814 Hs.650650 2124381 SHGC-35364 MGC104379;P-B;PBII;PRL3;PROL3;SMR1B OTTHUMP00000159762;OTTHUMP00000219876;proline rich 3;proline-rich peptide P-B;proline-rich protein 3;salivary proline-rich protein;submaxillary gland androgen regulated protein 3 homolog B;submaxillary gland androgen-regulated protein 3B protein-coding ENSG00000171201 17326 18078 611593 VALIDATED 1605229 SMTNL2 smoothelin-like 2 17 17 17 p13.2 4499504 4523839 + 4434043 4458363 + 4487276 4511614 + 6480464 16344560;12477932;21832049 342527 I3L3R4;Q2TAL5 ABBA01054770;AC118754;AK124452;AMYH01008039;AMYH01008040;BC105050;BC110859;BC112177;CH471108;DA822419;DB557882;NM_001114974;NM_198501 AAI05051;AAI10860;AAI12178;BAC85855;EAW90429;EAW90430;EAW90431;NP_001108446;NP_940903;Q2TAL5 Hs.441709 2126825 RH41994 FLJ42461;MGC131847;MGC138382 OTTHUMP00000163866;smoothelin-like protein 2 protein-coding ENSG00000188176 24764 13463 VALIDATED 1320987 SMTN smoothelin This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011] 22 22 q12.2 29807305 29830609 + 31477282 31500610 + 1580863;6480464 8707825;19252475;15302935;14702039;12477932;12176134;11316948;10627276;10591208;10550614;10023782;10023778;9847074;9244445;9113392;8125298;21472682;16919237;19950405;20154589;20716166;21164287;20636795;17549794;22963604;21150319;23000965;23568457;15717329;20360068;21683983;21139048;22118674;22960022;23033319 6525 B4DI56;B4E229;B5MCI0;C9JBH9;C9JGQ0;C9JP19;C9JQZ8;C9JV14;C9JYU8;H7BZZ8;H7C372;Q9UIT1 AB209643;ABBA01055320;AC005005;AF064238;AF115551;AF115552;AF115553;AF115554;AF115555;AF115556;AF115557;AF115558;AF115559;AF115560;AF115561;AF115562;AF115563;AF115564;AF115565;AF115566;AF115567;AF115568;AF115569;AF115570;AJ010306;AK092487;AK092684;AK095916;AK095930;AK096953;AK128627;AK128719;AK225648;AK293681;AK295418;AK300064;AK300854;AK301289;AK303424;AK304084;AK307627;AK309502;AMYH01012712;AY061971;AY061972;BC034237;CH471095;DC342566;NG_029838;NM_001207017;NM_001207018;NM_006932;NM_134269;NM_134270;Y13492;Z49989 AAD15619;AAF01481;AAF03562;AAF03563;AAH34237;AAL36149;AAL36150;ABM82102;ABM85284;BAD92880;BAG52594;BAG53165;BAG53168;BAG53398;BAG54703;BAG54716;BAG57122;BAG58368;BAG61871;BAG62504;BAG62847;BAG64475;BAG64991;CAA09077;CAA73884;CAA90281;EAW59925;EAW59926;EAW59927;EAW59928;EAW59929;EAW59930;EAW59931;EAW59932;NP_001193946;NP_001193947;NP_008863;NP_599031;NP_599032;P53814 Hs.149098 1693828;1778830;2157495;2162455;5015961;5022322 D11S2560;D15S1477;D22S600;RH65333;SHGC-57277;STS-W72233 FLJ35168;FLJ35365;FLJ35620;FLJ38597 OTTHUMP00000199381;OTTHUMP00000199382;OTTHUMP00000199383;OTTHUMP00000199384;smoothelin APPROVED protein-coding ENSG00000183963 11126 03675 602127 REVIEWED 1345734 SMS spermine synthase This gene encodes a protein belonging to the spermidine/spermin synthase family. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene are associated with X-linked Snyder-Robinson mental retardation syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] X X p22.1 21868763 21922876 + 21958691 22012955 + 1580863;6480464;6907045;7242932;7240710;7242425;7244193 2292587;23073625;13678416 9299240;7546290;19206178;18550699;15772651;15592455;15489334;14508504;12665801;12477932;9847074;8826448;5823961;16169070;19277733;20059804;21152090;21318891;21647366;22863883;22939629;18367445;21139048;21890473;21900206;21906983;19322201;21963094;22258329;23000965 6611 B4DE40;H7C2R7;P52788 ABBA01072017;ABBA01072018;ABBA01072019;ABBA01072020;ABBA01072021;ABBA01072022;ABBA01072023;AD001528;AK293455;AK313834;AMYH01022141;AMYH01022142;BC009898;BC085621;CH471074;NG_009228;NM_001258423;NM_004595;U53331;U72789;U73023;Z49099 AAB61308;AAD08634;AAH09898;AAH85621;ABW03798;BAG36567;BAG56951;CAA88921;EAW98984;EAW98985;EAW98986;NP_001245352;NP_004586;P52788 Hs.724874 1702854;2109867;2149097;2163211;2184142;5125884;5125886 A001U03;DXS7528;DXS7924;G19647;L47638;SMS_8632;WI-17538 MRSR;SPMSY;SRS;SpS OTTHUMP00000023048;OTTHUMP00000023049;Snyder-Robinson X-linked mental retardation syndrome;spermidine aminopropyltransferase;spermine synthase APPROVED protein-coding ENSG00000102172 11123 02115 182290;300105;309583 REVIEWED 1603623 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010] 7 7 q22.1 98463000 98579659 - 98625058 98741743 - 2298922;2302550;6480464;6484113;6907045 12809600;17726579 11278251;16720724;16299379;10458166;19318350;18927080;18380791;18208356;17676934;17510966;17190792;16611643;16540523;16472676;15761153;15710384;15252135;15138260;14722617;14702039;14657501;12853948;12690205;12519765;12477932;12151385;10997877;10708948;9110174;8619474;18641638;17894482;14657019;15820682;19363486;20484049;20621832;21454619;15817471;20844743;14701756;15621726;19379695;19914168;20228798;19937093;16622418;8889548;15221015;21832049;23087404;21382345;21402695;23781096;23184937;23226367;17289590;20200942;20207742;21708152;19144635;20580715;12857866;21262463;21887346;22195013;22152476;22318606;15761148;17906294;18451154;19307600;19917253;21685363;22773947;21898695;22474288;16516194;17215250;17576816;22670624;22496338;15231748;21572392;21963094;23444366;23475958;23042388;23128233;22949615;21897371;22921829;23032291 57154 Q8NDD8;Q9HCE7 AACC02000085;AB046845;ABBA01045693;ABBA01045694;ABBA01045695;AC004893;AC073468;AC114500;AF199364;AF464850;AK057024;AK126471;AL833673;AL834242;AMYH01017719;AY007164;BC008574;BC136804;BC144414;BC152468;BM981719;CH236956;CH471091;DB727777;NM_001199847;NM_020429;NM_181349 AAC62434;AAF08298;AAI36805;AAI44415;AAI52469;AAM90910;BAB13451;CAD38919;EAL23885;EAL23886;EAW76686;EAW76687;EAW76688;EAW76689;EAW76690;NP_001186776;NP_065162;NP_851994;Q9HCE7 Hs.189329 1686386;1693628;1735646;1853323;1853325;2107633;2136784;2141267;2181472;2181765;2187416 A005U06;D7S2062E;D7S2149E;G20498;HSC25H072;RH44466;SGC33466;SHGC-31299;SHGC-58544;SMURF1__6866;WI-10648 KIAA1625 E3 ubiquitin ligase SMURF1;E3 ubiquitin-protein ligase SMURF1;OTTHUMP00000024663;OTTHUMP00000205583;SMAD-specific E3 ubiquitin-protein ligase 1;Smad ubiquitination regulatory factor 1;Smad-specific E3 ubiquitin ligase 1;hSMURF1 APPROVED protein-coding ENSG00000198742 16807 06902 605568 REVIEWED 1606814 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011] 12 12 q13.11-q13.3 52861519 52869024 - 54574142 54582778 - 6480464;6907045 16189514;10583946;12161446;12718543;11937636;19403629;19365746;19324873;18835277;18270339;17537817;17150750;17029639;16407970;15489334;15466595;14702039;12820976;12477932;11526119;10074426;8125298;16103149;22483865;21454529;20574454;20226869;20522537;16344560;22939629;21427733;23246433;17360488 23583 D6RA25;D6RA78;D6RAI1;D6RAS0;D6RD88;D6RI04;D6RIA4;H0YA95;Q53HV7 ABBA01008364;AC023794;AF125182;AF489699;AI002776;AK001235;AK001789;AK091468;AK222473;AK290274;AMYH01004487;AMYH01004488;BC000417;BC088352;BC105607;BG706635;BG764502;BU195802;CD245413;CH471054;DA430734;DA703553;NM_001243787;NM_001243788;NM_001243789;NM_001243790;NM_001243791;NM_014311;NR_045039 AAD17301;AAH00417;AAH88352;AAI05608;AAL86910;BAA91571;BAC03670;BAD96193;BAF82963;EAW96752;EAW96753;EAW96754;EAW96755;EAW96756;EAW96757;NP_001230716;NP_001230717;NP_001230718;NP_001230719;NP_001230720;NP_055126;Q53HV7 Hs.632721;Hs.731659 1721649;1790073;1790075;1848567;2107631;2114293;2125353 D12S1194E;D12S2015;G59835;RH11305;SMUG1__6865;csnpsmug1-pcr2-1;csnpsmug1-pcr3-1 FDG;HMUDG;MGC104370;UNG3 OTTHUMP00000217426;OTTHUMP00000217430;OTTHUMP00000217434;OTTHUMP00000217438;OTTHUMP00000217440;single-strand selective monofunctional uracil DNA glycosylase APPROVED protein-coding ENSG00000123415 17148 06376 607753 REVIEWED 1343755 SMU1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 9 9 9 p12 32973152 33007723 - 33031850 33066714 - 33041850 33076714 - 724659;6480464 11410362 17041588;15570572;15489334;15164053;14702039;12477932;11438655;8125298;22586326;21145461;21628590;19615732;20379614;22939629;21139048;21890473;21906983;18781797;22190034;22505724 55234 A0MNN4;B4E3L0;Q2TAY7 ABBA01065070;ABBA01065071;ABBA01065072;AK001667;AK001732;AK022032;AK225559;AK225587;AK304767;AL162590;AL512690;AMYH01019321;BC002876;BC110654;CH471071;EF011613;NM_018225 AAH02876;AAI10655;ABK41103;ABM83931;ABM87250;BAA91822;BAG65522;EAW58522;EAW58523;NP_060695;Q2TAY7 Hs.655351 1673245;1699458;1703378;2124635;2172656;5014019;5020881;5020948;5022578;5037552;5093510;5115436 A009Q03;D1S1423;D5S2354;D8S2279;D9S1743;G32760;G35510;L17709;RH103320;RH48194;RH68042;SHGC-68674 BWD;DKFZp761L0916;FLJ10805;FLJ10870;FLJ11970;MGC117363;RP11-54K16.3;SMU-1;fSAP57 OTTHUMP00000021186;WD40 repeat-containing protein SMU1;brain-enriched WD-repeat protein;functional spliceosome-associated protein 57;smu-1 suppressor of mec-8 and unc-52 protein homolog protein-coding ENSG00000122692 18247 11588 VALIDATED 1345810 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 17 17 q22-q23 59971197 60088848 - 62540735 62658386 - 1580863;2298922;2302550;6480464;6484113;6907045 12809600;17726579 11016919;11158580;19122240;11163210;19481076;19255252;19155312;18927080;18852296;18842593;18821706;18671942;18514338;18353873;18181147;18052755;16641086;16061177;15862290;15761153;15574587;15489334;15342556;15231748;15146197;15138260;14722617;14702039;12477932;11389444;18448069;14562029;17719543;14755250;15621726;22624557;14701756;17318188;19379695;19557001;19805145;19898560;15221015;15496141;20819168;19620243;20026602;20676133;21933340;22070932;21750651;22045334;19343052;20484049;20937913;21791611;21953463;21945933;21967197;17906294;18451154;19307600;19917253;21402695;22773947;20858899;22231558;22378783;19318350;22344298;18729074;21424732;21897371;22921829;23250956 64750 J3QLG1;J3QQM4;J3QRY2;Q96DE7;Q9HAU4 ABBA01035289;ABBA01035290;ABBA01035291;ABBA01035292;ABBA01035293;ABBA01035294;AC009994;AC132812;AF301463;AF310676;AK002019;AMYH01008560;AMYH01008561;AY014180;BC009527;BC051283;BC093876;BC111945;BP363931;CB267500;CH471109;CN310238;CN370887;CR936721;NM_022739 AAG25641;AAG45422;AAG50421;AAH09527;AAH93876;AAI11946;EAW94193;EAW94194;EAW94195;NP_073576;Q9HAU4 Hs.743986 1647040;1652119;1676920;1679876;1684004;1691130;1699216;2110751;2117583;2118163;2172446;5015961;5037552;5109281 1024;D15S1477;D1S1425;D8S2279;G29209;RH103189;RH15988;RH68026;RH75179;RH79618;RH79788;RH80586;SMURF2__6867;STS-T85104 DKFZp686F0270;MGC138150 E3 ubiquitin ligase SMURF2;E3 ubiquitin-protein ligase SMURF2;SMAD ubiquitination regulatory factor 2;SMAD-specific E3 ubiquitin-protein ligase 2;hSMURF2 protein-coding 16809 06901 605532 VALIDATED 1352063 SNAI1P1 snail family zinc finger 1 pseudogene 1 2 2 2 q33-q37 204441229 204442958 + 210381603 210383468 + 210673446 210675148 + 16804902;12151403;10585766;10543399;9847074;19277896 10415 ABBA01062730;AC006385;AF153502;AJ245660;AMYH01011460;NG_000884 SNAI1L;SNAI1L1;SNAI1P snail homolog 1 like 1 (drosophila) APPROVED pseudo 11129 INFERRED 1354091 SMYD2 SET and MYND domain containing 2 SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008] 1 1 1 q32.3 187677508 187733362 + 212521199 212577097 + 214454565 214510477 + 1580863;2316155;6480464;6484113;7242554 19450511;22194015 9110174;17353931;19240061;18065756;16805913;16710414;15743541;15489334;12477932;8619474;17108971;19423649;20870719;21509594;21678921;21782458;21880715;21724641;22028380;23382691;22787429 56950 B0R0U3;I6L9H7;Q9NRG4 ABBA01048148;ABBA01048149;AF070592;AF226053;AK098683;AK313868;AL929236;AMYH01001717;AW474469;BC017080;BC028104;BC039890;BC049367;BC057793;BC068511;BC094747;BC098133;BC098276;BC098305;BC098335;BG723585;CH471100;NM_020197 AAF86953;AAH17080;AAH28104;AAH49367;AAH98133;AAH98276;AAH98305;AAH98335;BAG36596;EAW93355;EAW93356;EAW93357;EAW93358;NP_064582;Q9NRG4 Hs.66170 1644165;1672456;2108509;2116968;2161477;2184014 AL009564;D1S1920E;D1S3517;SHGC-76336;SHGC-76339;SMYD2_8071 HSKM-B;KMT3C;MGC119305;ZMYND14 N-lysine methyltransferase SMYD2;OTTHUMP00000035134;SET and MYND domain-containing protein 2;histone methyltransferase SMYD2;lysine N-methyltransferase 3C;zinc finger, MYND domain containing 14 APPROVED protein-coding ENSG00000143499 20982 15406 610663 VALIDATED 1312941 SMYD1 SET and MYND domain containing 1 2 2 2 p11.2 88373097 88418568 - 88148497 88194018 + 88367299 88412903 + 1580757;6480464 12858532 7590968;19162039;15489334;14702039;12477932;12011100;11923873;19783823;20379614;23382691 150572 C9JUP3;E9PHG3;Q5HYE8;Q8NB12 ABBA01018804;ABBA01018805;AC092836;AF086123;AK022290;AK091724;AL832035;AMYH01010628;AY518933;AY518934;BC017915;BC126191;BX647878;CH471215;NM_198274 AAI26192;AAT44535;AAT44536;ACE86665;ACE87349;ADR83018;BAC03732;CAI46077;CAI46139;EAW77077;EAW77078;EAW77079;EAW77080;NP_938015;Q8NB12 Hs.516176 1336804;1690962;2218040 D2S2216;RH92670;SMYD1_3717 BOP;KMT3D;ZMYND18;ZMYND22 CD8 beta opposite;OTTHUMP00000207183;OTTHUMP00000207184;SET and MYND domain-containing protein 1;histone-lysine N-methyltransferase SMYD1;zinc finger, MYND domain containing 18 protein-coding ENSG00000115593 20986 06025 606846 VALIDATED 1348508 SMYD3 SET and MYND domain containing 3 This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 q44 243979267 244647334 - 245912642 246670644 - 1580863;6480464 14667819;17353931;19321255;18452649;18294291;18027872;18006819;17998933;17963297;17431393;16710414;16441421;16155568;16081583;15489334;15235609;14702039;12477932;21167177;15342556;19509295;20379614;20725992;19403031;21266482;21832049;21450690;21054678;21779408;20957523;22419068;21890473;21906983;22194464;22318606;22659877;22819820;21988832;22810585;23251661 64754 A8MXR1;B0QZ88;B0QZ99;B0QZA0;Q9H7B4 AB057595;ABBA01047153;ABBA01047154;ABBA01047155;ABBA01047156;ABBA01047157;ABBA01047158;ABBA01047159;ABBA01047160;ABBA01047161;ABBA01047162;ABBA01047163;ABBA01047164;ABBA01047165;ABBA01047166;ABBA01047167;ABBA01047168;AC092801;AC094022;AC118555;AK023594;AK024733;AK289605;AL356583;AL358859;AL358941;AL445468;AL512412;AMYH01001900;AMYH01001901;AMYH01001902;AW173130;AY186742;BC017079;BC031010;BC107725;BI916760;BP231249;CH471148;NM_001167740;NM_022743 AAH17079;AAH31010;AAI07726;AAO31695;ABM83506;ABM86723;BAB14981;BAB86333;BAF82294;BAG51208;EAW77139;EAW77140;EAW77141;EAW77142;EAW77143;EAW77144;NP_001161212;NP_073580;Q9H7B4 Hs.567571 1645163;1645165;1670886;1673025;1673767;1692506;1700646;1706442;1709332;1712661;1712833;1713869;1714511;1718549;1726405;1755759;1761755;1763985;1777874;1780074;1851043;1853577;2109869;2139820;2139822;2157154;2165984;2187004 A002C15;A005P22;AFM155xc11;AL009278;AL009348;AL009702;AL033905;G16310;G19923;G20398;G62503;RH103946;RH119365;RH119768;RH120133;RH121995;RH122476;SHGC-142609;SHGC-145721;SHGC-154325;SHGC-155319;SHGC-57105;SHGC-76629;SHGC-76635;SHGC-76636;SHGC-80803;SHGC-81660;SMYD3_8086 FLJ21080;KMT3E;MGC104324;ZMYND1;ZNFN3A1;bA74P14.1 OTTHUMP00000038321;SET and MYND domain-containing protein 3;bA74P14.1 (novel protein);histone-lysine N-methyltransferase SMYD3;zinc finger MYND domain-containing protein 1;zinc finger protein, subfamily 3A (MYND domain containing), 1;zinc finger, MYND domain containing 1 APPROVED protein-coding ENSG00000185420 15513 12297 608783 VALIDATED 1319335 SMYD5 SMYD family member 5 2 2 2 p13.2 73292193 73305182 + 73294874 73307863 + 73441366 73454355 + 6480464 8754834;15489334;12477932;21139048;21906983 10322 C9IYN9;E2QRN5;F8WEJ9;Q6GMV2 ABBA01075579;AC010913;AK300779;AK301809;AMYH01010436;BC009484;BC073806;CH471053;DC303248;NM_006062;U50383 AAB38131;AAH73806;ABZ92291;BAG62443;BAG63258;EAW99744;EAW99745;NP_006053;Q6GMV2 Hs.631882 2126473 RH70659 NN8-4AG;RAI15;RRG1;ZMYND23 OTTHUMP00000197473;SET and MYND domain-containing protein 5;retinoic acid induced 15;retinoic acid responsive;retinoic acid-induced protein 15 protein-coding ENSG00000135632 16258 18080 VALIDATED 1351785 SNAP23P synaptosomal-associated protein, 23kDa pseudogene 20 20 20 q13.13 44359509 44359754 + 47088201 47088646 + 47654895 47655140 + 101290500 AL121903;NG_033168 dJ155G6.3 pseudo 16561 INFERRED 1320115 SNAI3 snail family zinc finger 3 SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009] 16 16 16 q24.3 73813753 73822552 - 87271591 87280383 - 88744090 88752882 - 6480464 12579345;12477932;14673164 333929 Q3KNW1 ABBA01015843;AC138028;AMYH01007912;BC041461;BC107058;CH471184;NM_178310 AAH41461;AAI07059;EAW66765;NP_840101;Q3KNW1 Hs.673548 MGC129606;SMUC;SNAIL3;ZNF293;Zfp293 protein snail homolog 3;snail homolog 3;zinc finger protein 293;zinc finger protein SNAI3 APPROVED protein-coding ENSG00000185669 18411 18781 612741 VALIDATED 6893014 SNAP25-AS1 SNAP25 antisense RNA 1 20 p12.2 10004460 10200154 - 16344560 100131208 ABBA01053932;AK124961;AL109754;AL354824;AMYH01011708;AMYH01011709;BF244758;DA318406;NR_040710 Hs.658178 1339840;1340083;1644052;1734182;1754073;1761817;1858263;2115015;2121528;2171731 D20S1075;D20S162;D20S504;D20S901;RH47929;SHGC-132109;SHGC-145770;STS-H93070;WI-11410;Z94390 miscrna ENSG00000227906 44312 VALIDATED 7051313 SNAI3-AS1 SNAI3 antisense RNA 1 16 q24.3 88729781 88753594 + 12477932;14702039 197187 ABBA01015843;AC116552;AC138028;AK094837;AMYH01007912;AY203928;BC015583;BC050404;BQ446432;BX640980;NR_024399;NR_024402 AAP34451 Hs.499548 5037552 D8S2279 miscrna ENSG00000260630 28327 VALIDATED 1347076 SNAI1 snail family zinc finger 1 The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008] 20 20 q13.2 48032934 48038830 + 48599513 48605423 + 1580863;6480464 21478114;22267549;22349639;16328348;16207734;16203744;16169460;15836774;15742334;15712635;15647282;15631989;15489334;15467754;15448698;15314165;15302935;15286702;15075229;15026811;14507651;12832491;12668723;12632084;12477932;12161443;12082640;11780052;11245431;10773451;10655587;10585766;10543399;19004823;16502042;17353931;19440385;19412634;19381684;19347028;19269083;19245592;19198871;19124656;19107228;19046938;19010907;18832382;18799618;18691339;18676743;18559496;18554584;18469861;18321996;18234959;18089802;18043286;18026186;17952120;17914115;17724139;17692821;17616667;17296734;17072303;17060462;16936774;16858414;16568079;22580338;22307688;20543867;20628624;20634891;21225336;21317430;20166136;20150431;20397042;20957493;20562920;16344560;14673164;20959806;20953189;19860811;20211142;20489148;20138990;20348013;20514449;20576520;20823140;20851575;17545014;18519590;19386897;19411070;19533388;19604397;19641025;19695091;19784072;19789323;19795442;19802011;19821482;19861116;19887480;19915148;19923321;19955572;20091050;18347060;20089328;20620220;20421926;21360437;20403241;21324165;20947514;20952218;21088236;21448462;21300290;19502595;21454664;20121949;20534591;21638011;19651985;21315410;21315411;22903530;21617757;23029563;21321977;21809991;22382019;21646478;19604315;21830269;21853110;21885439;22024162;22128911;20389281;21577210;21643654;21839581;21808237;21834956;22248055;22131135;22471493;23185371;23454378;21963453;22028892;22199300;11912130;21796367;22134354;22514743;21952048;21685935;22344746;22393371;21633953;22406531;16096638;22006115;22276203;22629832;22745173;23288509;22562246;22562247;22580609;23049906;22974478;22471696;20385133;23076049;22246525;23261431;23261444;23435375;23510993;18331720;23196056;23054398;22158034;18256147;22791710;23011797;22586581;22923499;23052737;23449453;23246564 6615 O95863 ABBA01052765;AF125377;AF131208;AF155233;AF177731;AJ245657;AJ245658;AJ245659;AK313228;AL121712;AMYH01011970;BC012910;BI822180;CH471077;DA972913;HI422754;NM_005985 AAD17332;AAD52986;AAD52996;AAF32527;AAH12910;ABM82525;ABM85719;BAG36039;CAB52414;CBX55848;EAW75640;NP_005976;O95863 Hs.48029 SLUGH2;SNA;SNAH;SNAIL;SNAIL1;dJ710H13.1 OTTHUMP00000031680;protein sna;protein snail homolog 1;snail 1 homolog;snail 1 zinc finger protein;snail 1, zinc finger protein;snail homolog 1;zinc finger protein SNAI1 APPROVED protein-coding ENSG00000124216 11128 05025 604238 REVIEWED 1316528 SMYD4 SET and MYND domain containing 4 17 17 17 p13.3 1699373 1749745 - 1629579 1679925 - 1682829 1733175 - 1580863;6480464 19383909;20705733;16344560;15489334;15146197;14702039;12477932;11752456;11572484;8889548;20379614 114826 I3L1V4;I3L2P4;I3L428;I3L496;Q8IYR2 AB067523;ABBA01054677;ABBA01054678;ABBA01054679;ABBA01054680;AC130689;AK057769;AK092149;AK095369;AL137345;AMYH01008004;AMYH01008005;AV700545;BC035077;BM676597;CH471108;CN352185;CR987176;DB219337;NM_052928 AAH35077;BAB67829;BAB71564;BAC04538;EAW90576;NP_443160;Q8IYR2 Hs.514602 1689710;5014051;5015619;5015879;5015961;5016478;5017433;5020635;5021872;5037552;5109281 D11S3114;D15S1477;D1S1425;D7S3207;D8S2278;D8S2279;GDB:314949;GDB:434012;RH99281;STS-T76997;sY3084 KIAA1936;ZMYND21 OTTHUMP00000115681;SET and MYND domain-containing protein 4 protein-coding ENSG00000186532 21067 18079 VALIDATED 6483991 SNAP47-AS1 SNAP47 antisense RNA 1 q42.13 14702039 100885800 AK057311 Hs.668786 SNAP47-IT1 APPROVED miscrna 41501 735659 SNAI2 snail family zinc finger 2 This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008] 8 8 q11 49992789 49996541 - 49830236 49833999 - 1600041;1580863;6480464;7240710 12444107 9182671;10866665;19448627;19389926;19046938;18853422;18799618;18716062;18685621;18663143;18628477;18588516;18485278;18160708;18056415;17984306;17724139;17194444;16952353;16924233;16717446;16707493;16541421;16169465;15737616;15734731;15709186;15489334;15337769;15314165;12477932;11912130;10518215;10479723;9721220;9337409;8125298;22178381;20565806;20634891;21081648;21274735;19381684;19502595;19681038;19751508;19756381;19784072;19821482;20019845;20101232;20128911;23244088;23447531;20150431;20809941;20138990;20418652;20622260;20564361;20509143;14673164;21044962;21199805;20503457;22074556;20594328;16344560;20651304;22745193;23086238;21182836;21207222;20738754;21832049;22974478;23059759;21647877;21809991;21645451;21785273;21532623;21470622;21593765;21599940;21632819;22028892;23434592;23438693;22232555;22385965;22899291;23031797;23354685;22490800;22232246;20730573;22208948;21053100;21120639;21808237;22493711;22496452;22503751;22288519;22937066;21645238;22727060;23352643;22911700;22471696;23410973;21656704;23190132;23226515;23567973;23052737;22508482;18256147;22801439;23011797;23142026;22886823;23029385 6591 O43623 AA410443;ABBA01041658;AC013701;AF042001;AF084243;AK223368;AK312661;AMYH01018705;BC014890;BC015895;BG706203;CH471068;DA522147;NG_012130;NM_003068;U97060 AAB58705;AAC34288;AAD55240;AAH14890;AAH15895;ABZ92391;BAD97088;BAG35543;EAW86700;NP_003059;O43623 Hs.360174 1698566;1753251;1774043;2107635;5492258 RH102835;RH48259;SHGC-110054;SNAI2__6869;Snai2 MGC10182;SLUG;SLUGH1;SNAIL2;WS2D OTTHUMP00000195093;neural crest transcription factor SLUG;protein snail homolog 2;slug (chicken homolog), zinc finger protein;snail 2;snail homolog 2;zinc finger protein SNAI2 APPROVED protein-coding ENSG00000019549 11094 03689 172800;602150;608890 REVIEWED 1601832 SNAP47 synaptosomal-associated protein, 47kDa 1 1 1 q42.13 201114401 201160635 + 225989320 226035550 + 227922697 227968932 + 6480464 16621800;14702039;12477932;19546860;21139048;21906983;22797925 116841 H0Y627;H7C3C7;Q96CQ3 ABBA01009608;ABBA01009609;AK054633;AL136378;AL731702;AMYH01001784;AY090635;BC001332;BC004418;BC007786;BC011145;BC014059;BC018760;BC025231;BX648570;CH471098;FJ236305;NM_053052 AAH01332;AAH04418;AAH07786;AAH11145;AAH14059;AAH18760;AAH25231;AAM09082;ACI45237;BAB70779;CAI45994;EAW69816;EAW69817;NP_444280;Q5SQN1 Hs.325081 1735212;1767222;2118448;2118450;2148400;5037738 D1S1837E;D1S3689;HSC0YB102;SHGC-32828;SHGC-76435;SHGC-76436 C1orf142;DKFZp686M10160;FLJ12517;HEL170;SNAP-47;SVAP1 OTTHUMP00000035832;OTTHUMP00000035834;epididymis luminal protein 170;synaptosomal-associated 47 kDa protein;synaptosomal-associated protein 47 protein-coding ENSG00000143740 30669 17148 VALIDATED 1604652 SNAP23 synaptosomal-associated protein, 23kDa Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 q14 40575127 40612548 + 42787504 42825259 + 2302393;2302397;2312656;6480464 17717074;18570632;18431594 16180048;15489334;12930825;12877659;12832401;12828989;12773094;12665801;12651853;12556468;12551899;12477932;12475239;12434312;12209004;12130530;12124380;12121992;11842301;11444845;11354632;11029050;11001914;10820264;10713150;10588641;10373452;10036234;9815132;9701566;9693005;9614185;9507000;9168999;9070898;12853575;9852078;15029241;16272324;15610015;16189514;10839363;9727496;8663154;18029348;19086053;18665925;18457912;17825825;17485553;22261722;15635093;20562859;20519516;11031247;11252894;11994746;18588921;20416077;19910495;20460426;16341674;16344560;21642540;22939629;21981832;21768361;21900206;21987572;21139048;21906983;19322201;19738201;21963094;23000965;23087210 8773 A8K287;H3BM38;H3BNE1;H3BNG6;H3BP15;H3BPJ0;H3BQY9;H3BR18;H3BR99;H3BU94;H3BV99;O00161 ABBA01038369;ABBA01038370;ABBA01038371;ABBA01038372;ABBA01038373;AC018362;AJ011915;AJ278972;AJ278973;AJ278974;AK290152;AK313161;AK315279;AMYH01006582;BC000148;BC003686;BC022890;BI918294;BM782600;BT006916;CH471125;CR457212;DA650133;DA882401;NM_003825;NM_130798;U55936;Y09567;Y09568 AAC50537;AAH00148;AAH03686;AAH22890;AAP35562;ABM85012;BAF82841;BAG35979;CAA09864;CAA70760;CAA70761;CAC07504;CAG33493;EAW92556;EAW92557;EAW92558;EAW92559;NP_003816;NP_570710;O00161 Hs.511149 1679387;2129998;2173831;5093256;5107608;5124864 A009K18;G32612;RH17890;RH77806;RH93442;STS-H02552 HsT17016;SNAP-23;SNAP23A;SNAP23B OTTHUMP00000161203;OTTHUMP00000161263;SNAP-23;synaptosomal-associated protein 23;vesicle-membrane fusion protein SNAP-23 APPROVED protein-coding ENSG00000092531 11131 03962 602534 REVIEWED 731271 SNAP91 synaptosomal-associated protein, 91kDa 6 6 q14.2 84319332 84475495 - 84262604 84419127 - 1580863;6480464 19450545;19086053;16344560;15555551;15489334;15345747;14574404;12847086;12807910;12750376;12732633;12493563;12477932;11779129;10748223;10579202;10436022;10430869;9734811;9110174;8619474;8063760;20379614;20511563;22939629;20847448;21808019;17043677;12538641;21813615;22479182;22639918;23092984 9892 B7Z2N2;E5RFC6;E5RFU0;E5RGP8;E5RGY9;E5RHK9;E5RIJ5;E5RJY3;E5RK51;E5RK53;E9PDG8;F5GWN7;H0Y357;H0YBT2;O60641 AB014556;ABBA01040457;AF054993;AK289582;AK294556;AK294898;AL109915;AMYH01016470;AMYH01016471;BC036650;BC044579;BC060818;CH471051;CR749348;DA110036;DA307867;DA316497;DA323323;DB480068;NM_001242792;NM_001242793;NM_001242794;NM_001256717;NM_001256718;NM_014841 AAC09352;AAH60818;BAA31631;BAF82271;BAH11808;BAH11918;CAH18201;EAW48656;EAW48657;EAW48658;EAW48659;EAW48660;EAW48661;NP_001229721;NP_001229722;NP_001229723;NP_001243646;NP_001243647;NP_055656;O60641 Hs.368046 1338552;1748879;1750329;1772499;2158459;5109577;5491581 D19S703E;D6S1609;D6S1922;MARC_21740-21741:1023217238:1;RH1538;SHGC-110549;SHGC-112644 AP180;CALM;DKFZp781O0519;KIAA0656 91 kDa synaptosomal-associated protein;OTTHUMP00000016794;OTTHUMP00000016795;OTTHUMP00000224760;OTTHUMP00000224761;OTTHUMP00000224789;OTTHUMP00000224797;OTTHUMP00000224798;OTTHUMP00000224841;assembly protein, 180kDa;clathrin coat assembly protein AP180;clathrin coat-associated protein AP180;phosphoprotein F1-20;synaptosomal-associated protein, 91kDa homolog APPROVED protein-coding ENSG00000065609 14986 06391 607923 VALIDATED 735746 SNAP29 synaptosomal-associated protein, 29kDa This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.21 19543292 19574109 + 21213292 21245502 + 1299477;1580863;6480464;7240710 9852078 10839363;19350501;19086053;16189514;15968592;15890653;15489334;15461802;15371016;12853575;12477932;11707603;11444821;11423532;11317222;10591208;9880331;16009131;21073448;18029348;20562859;20305790;22558309;19738201;21988832;22792062;23000965;20360068;21139048;21906983 9342 C9JAF7;O95721 ABBA01015442;AC007308;AF115436;AF278704;AK024704;AMYH01012538;BC009715;BF435261;BG773022;BT007357;CA427899;CH471176;CR456582;NG_012152;NM_004782 AAD11436;AAF91421;AAH09715;AAP36021;CAG30468;CAK54612;CAK54911;EAX02935;NP_004773;O95721 Hs.108002 1654559;1696938;1707876;2109871;2166002;5022200;5022578 D1S1423;D22S1201;L18426;RH101941;RH68848;SHGC-82177;SNAP29__6871 CEDNIK;FLJ21051;SNAP-29 OTTHUMP00000198464;OTTHUMP00000198533;soluble 29 kDa NSF attachment protein;synaptosomal-associated protein 29;vesicle-membrane fusion protein SNAP-29 APPROVED protein-coding ENSG00000099940 11133 11968 604202;609528 REVIEWED 5508550 SNAPC5P1 small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1 6 6347320 6347600 - 100750245 ABBA01022019;AL133326;AMYH01016057;NG_030348 pseudo 38667 INFERRED 734151 SNAP25 synaptosomal-associated protein, 25kDa Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 20 20 p12-p11.2 10147477 10236065 + 10199477 10288066 + 1579958;2311121;6480464 12499044;12830383 18512733;7553862;8692999;8760387;15537656;19506906;19352218;19193342;19156168;19156089;19132710;19125158;19099826;19086053;19058789;19004828;18821566;18821565;18726138;18658150;18633321;18617262;18596234;18519826;18457912;18347838;18250960;18191416;18041776;17908175;17877635;17501935;17455213;17427194;17325714;17325713;16939418;16801949;16672379;16381901;16189514;16169070;16088329;15823421;15752769;15717291;15603740;15592454;15489336;15489334;15121806;15007392;14709554;14702039;12853575;12847087;12814864;12691775;12660803;12477932;12475239;12459461;12403834;12145319;12114505;12062043;11920846;11832947;11832227;11780052;11524423;11509230;11493665;11438521;11438518;11076863;10954418;10906076;10886332;10825299;10692432;10644766;10625663;10373452;10336434;10195194;10085240;9817754;9556632;9452464;9395480;9349529;9168999;8999968;8663154;8661740;8125298;8112622;8056350;7961655;7768895;7622514;12200427;9030619;10194441;9852078;10449403;9325254;10777571;15635093;22890573;19546860;20599404;20677014;20679152;17207965;20950795;17363971;18957941;19557857;19695183;19713048;19721846;19724880;19858760;19913510;20333500;20379614;19806613;22732502;16722236;20519516;21073671;21348951;21378164;21526988;21756448;22940547;17500595;21832049;21497654;21557260;21916482;21926557;21996783;21139048;22193912;23612411;22762387;18381601;20489724;19060904;23341457;23403573;23463002;23242284 6616 Q53EM2 ABBA01053932;AK026732;AK090857;AK094560;AK098347;AK098767;AK223617;AK289647;AK314359;AL023913;AL354824;AMYH01011709;AMYH01011710;BC010647;BI552777;BI602062;BI604120;BT019684;BX647443;CH471133;D21267;L19760;L19761;NG_029626;NM_003081;NM_130811 AAC37545;AAC37546;AAH10647;AAV38490;ADQ32436;BAA22370;BAD97337;BAF82336;BAG36991;CAL38108;CAL38529;EAX10346;EAX10347;EAX10348;EAX10349;EAX10350;EAX10351;EAX10352;EAX10353;NP_003072;NP_570824;P60880 Hs.167317 1645433;1653565;1656631;1659650;1664057;1675273;1678969;1703408;1717983;1768987;2132282;2148989;2159714;2190931;7183683 1788;D20S763;MARC_11717-11718:1029180244:1;RH122608;RH28686;RH47511;RH64137;SHGC-12843;SHGC-68771;STS-AA017039;WI-14216;WI-18780;WI-19889;Z94685 FLJ23079;RIC-4;RIC4;SEC9;SNAP;SNAP-25;bA416N4.2;dJ1068F16.2 OTTHUMP00000030267;OTTHUMP00000030268;SUP;resistance to inhibitors of cholinesterase 4 homolog;super protein;synaptosomal-associated 25 kDa protein;synaptosomal-associated protein;synaptosomal-associated protein 25 APPROVED protein-coding ENSG00000132639 11132 02637 600322 REVIEWED 2303858 SNAR-A1 small ILF3/NF90-associated RNA A1 19 q13.33 48421686 48421807 + 17855395 100126798 AC124853;AMYH01009895;EU071051;NR_004435 Hs.579631 SNAR-A53113498 snrna 34304 PROVISIONAL 2301580 SNAR-A10 small ILF3/NF90-associated RNA A10 19 q13.33 50626331 50626451 - 17855395 100170216 AC010624;EU071060;NR_024229 Hs.723094 snrna 34313 PROVISIONAL 2301586 SNAR-A11 small ILF3/NF90-associated RNA A11 19 q13.33 50631659 50631779 - 17855395 100169954 AC010624;EU071061;NR_024225 Hs.723094 snrna 34314 PROVISIONAL 1312249 SNAPC1 small nuclear RNA activating complex, polypeptide 1, 43kDa 14 14 14 q22 42279530 42313604 + 61298920 61332899 + 62229075 62263146 + 1580863;6480464 9003788;15955816;15489334;12621023;12477932;11094070;11056176;9644240;8524284;7715707;20211142;22966203;22318606;21139048;21890473 6617 B2RC42;Q16533 ABBA01018302;ABBA01018303;AK314933;AL137129;AMYH01005778;BC014984;BC019038;CH471061;NM_003082;U44754;Z47542 AAC50358;AAH14984;AAH19038;ABM83609;ABM86852;BAG37439;CAA87590;EAW80810;NP_003073;Q16533 Hs.179312 1644068;1666174;1677915;1742633;5014051;5021872 D14S1334;D8S2278;GDB:198173;RH93275;STS-U44754;sY3084 PTFgamma;SNAP43 OTTHUMP00000179060;PSE-binding factor subunit gamma;PTF subunit gamma;SNAPc 43 kDa subunit;SNAPc subunit 1;proximal sequence element-binding transcription factor subunit gamma;small nuclear RNA-activating complex polypeptide 1;snRNA-activating protein complex 43 kDa subunit;snRNA-activating protein complex subunit 1 protein-coding ENSG00000023608 11134 08998 600591 VALIDATED 2303854 SNAR-A12 small ILF3/NF90-associated RNA A12 19 q13.33 48410935 48411056 + 17855395 100126800 ABBA01041064;AC124853;AMYH01009891;EU071062;NR_004437 Hs.707967 SNAR-A53102747 snrna 34315 PROVISIONAL 2301582 SNAR-A13 small ILF3/NF90-associated RNA A13 19 q13.33 48448179 48448300 + 17855395 100169959 AC124853;EU071063;NR_024216 Hs.723093 snrna 34316 PROVISIONAL 2301594 SNAR-A14 small ILF3/NF90-associated RNA A14 19 q13.33 50601083 50601203 - 17855395 100191063 AC010624;AMYH01009921;NR_024242 Hs.723094 snrna 34338 PROVISIONAL 2303857 SNAR-A2 small ILF3/NF90-associated RNA A2 19 q13.33 48437438 48437559 + 17855395 100126799 AC124853;AMYH01009920;EU071052;NR_004436 Hs.723085 SNAR-A53129250 snrna 34305 PROVISIONAL 2301589 SNAR-A3 small ILF3/NF90-associated RNA A3 19 q13.33 48427036 48427156 + 17855395 100169951 AC124853;EU071053;NR_024214 Hs.723094 snrna 34306 PROVISIONAL 2301584 SNAR-A4 small ILF3/NF90-associated RNA A4 19 q13.33 50595746 50595866 - 17855395 100169956 ABBA01032901;AC010624;AMYH01009925;EU071054;NR_024215 Hs.717307 snrna 34307 PROVISIONAL 2301588 SNAR-A5 small ILF3/NF90-associated RNA A5 19 q13.33 50604148 50604268 - 17855395 100169952 ABBA01032901;AC010624;AMYH01009921;EU071055;NR_024223 Hs.723094 snrna 34308 PROVISIONAL 2301583 SNAR-A6 small ILF3/NF90-associated RNA A6 19 q13.33 50607212 50607332 - 17855395 100169957 AC010624;EU071056;NR_024227 Hs.723094 snrna 34309 PROVISIONAL 2301587 SNAR-A7 small ILF3/NF90-associated RNA A7 19 q13.33 50610271 50610391 - 17855395 100169953 AC010624;EU071057;NR_024224 Hs.723094 snrna 34310 PROVISIONAL 2296068 SNAR-A8 small ILF3/NF90-associated RNA A8 19 q13.33 50615625 50615745 - 17855395 100169958 AC010624;EU071058;NR_024228 Hs.723094 snrna 34311 PROVISIONAL 2301585 SNAR-A9 small ILF3/NF90-associated RNA A9 19 q13.33 50620977 50621097 - 17855395 100169955 AC010624;EU071059;NR_024226 Hs.723094 snrna 34312 PROVISIONAL 2301575 SNAR-B1 small ILF3/NF90-associated RNA B1 19 q13.33 50637002 50637121 - 17855395 100170224 AC010624;AMYH01009895;EU071064;NR_024231 Hs.446545 snrna 34317 PROVISIONAL 1312116 SNAPC2 small nuclear RNA activating complex, polypeptide 2, 45kDa This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 19 19 p13 7891229 7894134 + 7985194 7988136 + 1580863;6480464 7715707;8524284;18356157;15489334;12621023;12477932;11318610;11056176;9418884;8633057;8125298;15342556;16769183;9003788;9488448;9732265;21444690 6618 M0QXY9;M0R1L8;Q13487 ABBA01010876;AC010336;AK222926;AK314878;AMYH01009418;BC011868;BP234322;BX647416;CF454397;CH471139;EC481022;NM_003083;NR_030717;U44755;U44898 AAB06230;AAC50359;AAH11868;ABZ92146;ABZ92431;BAD96646;BAG37393;EAW68957;EAW68958;NP_003074;Q13487 Hs.631860 1682930 RH98907 PTFdelta;SNAP45 PSE-binding factor subunit delta;PTF subunit delta;SNAPC 45 kDa subunit;SNAPc subunit 2;proximal sequence element-binding transcription factor subunit delta;small nuclear RNA-activating complex polypeptide 2;snRNA-activating protein complex 45 kDa subunit;snRNA-activating protein complex subunit 2 APPROVED protein-coding ENSG00000104976 11135 05464 605076 REVIEWED 2301579 SNAR-B2 small ILF3/NF90-associated RNA B2 19 q13.33 50642375 50642494 - 17855395 100170217 ABBA01033021;AC010624;AMYH01009930;EU071065;NR_024230 Hs.723095 snrna 34318 PROVISIONAL 2301574 SNAR-C1 small ILF3/NF90-associated RNA C1 19 q13.32 48458939 48459058 + 17855395 100170225 AC124853;AMYH01009896;EU071066;NR_024220 Hs.717052 snrna 34319 PROVISIONAL 2301578 SNAR-C2 small ILF3/NF90-associated RNA C2 19 q13.32 48432075 48432194 + 17855395 100170218 AC124853;AMYH01009891;EU071067;NR_024217 Hs.723092 snrna 34320 PROVISIONAL 2301573 SNAR-C3 small ILF3/NF90-associated RNA C3 19 q13.32 48453553 48453671 + 17855395 100170226 AC124853;AMYH01009930;EU071068;NR_024221 Hs.467061 snrna 34321 PROVISIONAL 2301576 SNAR-C5 small ILF3/NF90-associated RNA C5 19 q13.32 48416308 48416427 + 17855395 100170223 AC124853;AMYH01009891;EU071070;NR_024219 Hs.717052 snrna 34323 PROVISIONAL 2301577 SNAR-C4 small ILF3/NF90-associated RNA C4 19 q13.32 48442798 48442917 + 17855395 100170219 AC124853;AMYH01009922;EU071069;NR_024218 Hs.560634 snrna 34322 PROVISIONAL 2301572 SNAR-D small ILF3/NF90-associated RNA D 19 19 q13.33 47693651 47693769 - 50643459 50643577 - 17855395 100170227 ABBA01068344;AC010624;AMYH01009930;EU071071;NR_024243 Hs.717309 snrna 34324 PROVISIONAL 2303859 SNAR-F small ILF3/NF90-associated RNA F 19 19 q13.33 48159552 48159674 + 51108220 51108342 + 17855395 100126781 ABBA01068310;AC008743;AMYH01009941;EU071073;NR_004384 Hs.707968 snrna 34326 PROVISIONAL 2301774 SNAR-E small ILF3/NF90-associated RNA E 19 19 q13.32 44138103 44138222 - 47333842 47333961 - 17855395;21444687;22120889 100170220 ABBA01040989;AC008622;AMYH01009872;EU071072;NR_024258 Hs.541243 snrna 34325 PROVISIONAL 2301571 SNAR-G2 small ILF3/NF90-associated RNA G2 19 19 q13.33 46402133 46402251 - 49534926 49535044 - 17855395 100170228 ABBA01032949;AC008687;AMYH01009908;EU071075;NR_024244 Hs.717308 snrna 34328 PROVISIONAL 2303860 SNAR-G1 small ILF3/NF90-associated RNA G1 19 19 q13.33 46407486 46407613 + 49540277 49540404 + 17855395 100126780 ABBA01032948;AC008687;AMYH01009908;EU071074;NR_004383 Hs.621635 snrna 34327 PROVISIONAL 2303850 SNAR-H small ILF3/NF90-associated RNA H 2 2 p12 78010849 78010968 - 78182033 78182152 - 17855395 100170221 ABBA01075649;AC073628;AMYH01010467;EU071076;NR_024342 Hs.717311 snaR-2 snrna 34329 PROVISIONAL 2303849 SNAR-I small ILF3/NF90-associated RNA I 3 3 q28 189025885 189026005 + 190595719 190595839 + 17855395 100170222 ABBA01058322;AC092952;AMYH01013758;EU071077;NR_024343 Hs.717310 snaR-3 snrna 34330 PROVISIONAL 1319171 SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa 9 9 9 q34.3 109784965 109807827 - 138389850 138412710 - 139270029 139292889 - 6480464 7715707;9418884;11056176;17670747;15955816;15302935;15164053;14702039;12621023;12477932;11856838;17643375;20237496;20379614;20463747;20562859;21102463;21297633;8524284;21139048;21900206;22936669 6621 Q5SXM2 ABBA01022705;ABBA01022706;ABBA01022707;AF032387;AK023513;AL592301;AMYH01021861;BC013606;CH471090;CT003125;HI574188;NM_003086 AAC02972;AAI72433;CBX47583;EAW88225;EAW88226;EAW88227;NP_003077;Q5SXM2 Hs.113265 2165067 STS-H69662 FLJ13451;PTFalpha;SNAP190 OTTHUMP00000022583;PSE-binding factor subunit alpha;PTF subunit alpha;SNAPc 190 kDa subunit;SNAPc subunit 4;proximal sequence element-binding transcription factor subunit alpha;snRNA-activating protein complex 190 kDa subunit;snRNA-activating protein complex subunit 4 protein-coding ENSG00000165684 11137 04146 602777 VALIDATED 1313043 SNAPC3 small nuclear RNA activating complex, polypeptide 3, 50kDa 9 9 9 p22.3 15356122 15394975 + 15412782 15451627 + 15422782 15461627 + 1580863;6480464 9003788;17474147;7715707;16901896;15489334;15164053;12621023;12477932;11094070;11056176;8816454;900378;8524284;21890473;21906983;22505724;22797925 6619 Q5T282;Q5T284;Q92966 ABBA01065278;ABBA01065279;AK293310;AL441925;AMYH01019246;AMYH01019247;BC014985;BC036031;BC108743;BC121011;BC121012;CH471071;NM_001039697;U66413;U71300 AAC50948;AAD09214;AAH14985;AAI08744;AAI21012;AAI21013;ABZ92234;BAG56830;EAW58680;EAW58681;EAW58682;NP_001034786;Q92966 Hs.546299 1653591;1681734;1684788;1735924;1739119;2163996;2172649 D9S1059E;D9S1630;G30507;RH78643;RH80849;RH92362;STS-H39845 MGC132011;MGC33124;PTFbeta;SNAP50 OTTHUMP00000021068;OTTHUMP00000021069;OTTHUMP00000021070;OTTHUMP00000021072;PSE-binding factor subunit beta;PTF subunit beta;SNAPc 50 kDa subunit;SNAPc subunit 3;proximal sequence element-binding transcription factor subunit beta;small nuclear RNA-activating complex polypeptide 3;snRNA-activating protein complex 50 kDa subunit;snRNA-activating protein complex subunit 3 protein-coding 11136 03826 602348 VALIDATED 1313202 SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa 15 15 15 q22.31 43671873 43679351 - 64569720 64577200 - 66782666 66790146 - 1580863;6480464 9732265;16344560;16189514;15489334;15146197;12477932;11056176;15867431;22797925 10302 H3BQA0;H3BSI3;O75971 ABBA01038819;AC116913;AF093593;AK024763;AK292051;AK312018;AMYH01006723;BC014315;CD685245;CH471082;CN347010;DB037177;NM_006049 AAC61873;AAH14315;BAF84740;EAW77770;EAW77771;EAW77772;NP_006040;O75971 Hs.30174 1682261;1684367;1685355;1744317;1797840;2138203 GDB:451670;MAP2K1_2178;RH28581;RH65816;RH68988;RH93816 SNAP19 OTTHUMP00000164251;SNAPc 19 kDa subunit;SNAPc subunit 5;small nuclear RNA-activating complex polypeptide 5;snRNA-activating protein complex 19 kDa subunit;snRNA-activating protein complex subunit 5 protein-coding ENSG00000174446 15484 16183 605979 VALIDATED 1319545 SNCAIP synuclein, alpha interacting protein This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2011] 5 5 q23.2 121675719 121827693 + 121647820 121799794 + 1580863;6480464;6907045 11590439;11956199;12364339;14506261;18029348;18782602;18635553;18366718;18292964;17982729;17467279;17327361;16877356;16595633;16174773;15894486;15728840;15322916;14702039;14645218;14639662;14627698;12915459;12761037;12750386;12695511;12477932;12044636;11958831;11784370;11427316;11331421;10967135;10319874;11742726;16169070;15603737;15105460;8889549;12423244;16049031;18335262;19224863;19762560;19857556;20379614;19730898;15064394;15944382;20301402;20890676;20604806;22388932;20816781;21103907;20849899;20089136;21890473;22321011;21900206;22828940;21344240;16096643;21590270;20301387;17549501;16365047 9627 B7Z616;B7Z995;D6R9G8;D6RBR2;D6RD29;D6REC1;D6RFL3;D6RHX3;Q6L980;Q6L981;Q6L982;Q6L983;Q6L986;Q9NVG1 AB110788;AB110789;AB110790;AB110791;AB110792;AB110793;AB110794;ABBA01068955;ABBA01068956;ABBA01068957;AC022101;AC113349;AC119150;AF076929;AF167306;AK001617;AK021944;AK298882;AK299687;AK304646;AK310835;AMYH01015585;AMYH01015586;BC033743;BC040552;BC094759;BM908442;CH471086;DQ227317;N21998;NG_011486;NM_001242935;NM_005460 AAD30362;AAG17478;AAH33743;AAH40552;AAH94759;ABB51162;BAA91791;BAD19017;BAD19018;BAD19019;BAD19020;BAD19021;BAD19022;BAD19023;BAG51060;BAH12894;BAH13102;BAH14231;EAW48887;EAW48888;EAW48889;EAW48890;EAW48891;NP_001229864;NP_005451;Q9Y6H5 Hs.426463 1653295;1693698;1703984;1723343;1757147;2108511;5017710 RH118488;SHGC-144579;SHGC-58617;SHGC-77767;SNCAIP;SNCAIP_7955;WI-13890 MGC39814;SYPH1;Sph1 OTTHUMP00000159162;OTTHUMP00000159163;OTTHUMP00000222988;alpha-synuclein-interacting protein;synphilin-1 APPROVED protein-coding ENSG00000064692 11139 04804 603779 REVIEWED 733869 SNCB synuclein, beta The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and putatively inhibit phospholipase D2 selectively. The encoded protein, which may play a role in neuronal plasticity, is abundant in neurofibrillary lesions of patients with Alzheimer disease. This protein has been shown to be highly expressed in the substantia nigra of the brain, a region of neuronal degeneration in patients with Parkinson disease; however, no direct relation to Parkinson disease has been established. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q35 175979816 175990163 - 176047210 176057557 - 1580863;6480095;6219004;6480464;6478703;6478793;6480098;6480199;6478800;730073;6480195;6480200;6480194;7240710 10557341;15365127;21264917;17556099;10934140;12657883;15483670;12496452;14637093;12410393;11578596 9806846;18436957;18221001;17692832;17681534;17653558;17092945;16959793;16597821;15591046;15489334;12867415;12783249;12695511;12477932;11812782;11683992;11588588;10852916;9163350;8194594;7558013;22087225;21593311;11312271;16169070;20043104;20833719;20697047;19875982;20693280;20959308;20854101;21085664;21386983;19889641;21699177;18029348;21683963;22205345;23319586;11698390;21117662 6620 Q16143;Q59GT0 AB209029;ABBA01033485;ABBA01033486;AC091934;AF053134;AF053135;AF053136;AK309135;AMYH01015864;BC002902;BM543516;BM967045;BT006627;CH471195;CR457027;JF960950;JF960951;JF960952;JF960953;NG_012131;NM_001001502;NM_003085;S69965 AAB30860;AAC80286;AAH02902;AAP35273;ABM83896;ABM87217;AEQ54756;AEQ54757;AEQ54758;AEQ54759;BAD92266;CAG33308;EAW85063;EAW85064;NP_001001502;NP_003076;Q16143 Hs.90297 2107637;2115927;5022651 D11S2921;D5S2595;SNCB_7881 OTTHUMP00000161244;OTTHUMP00000223368;OTTHUMP00000223369;OTTHUMP00000223370;beta-synuclein APPROVED protein-coding ENSG00000074317 11140 03980 127750;602569 REVIEWED 1349916 SNED1 sushi, nidogen and EGF-like domains 1 2 2 2 q37.3 235639389 235703345 + 241586928 241682316 + 241938255 242033643 + 737633;6480464 12477932 15162516;22675492;22266900 25992 B5MEF5;H7BYY9;H7C0D4;H7C1R9;Q8TER0 ABBA01006036;ABBA01006037;ABBA01006038;AC005237;AC093585;AC104809;AF439717;AF439718;AK074062;AK074075;AL050143;AMYH01011627;AMYH01011628;BC027939;CH471063;NM_001080437 AAH27939;AAQ04558;AAQ04563;BAB84888;BAB84901;EAW71233;NP_001073906;Q8TER0 Hs.471834 1661646;1671426;1689211;1716143;1847691;2109873;2113928;2133710;2134786;2141078;2144506;2149526;2151586;2159854;2179763;2184091;2185925 A002H36;AB046104;D2S1611E;D2S2890;G19468;G42004;G42005;G42006;G42007;G42008;G42009;G42010;RH121037;RH12328;RH93931;SNED1_9445;STS-Z41119 DKFZp586B2420;FLJ00133;SST3;Snep 6720455I24Rik homolog;IRE-BP1;OTTHUMP00000200552;OTTHUMP00000200553;OTTHUMP00000200554;insulin responsive sequence DNA binding protein-1;insulin-responsive sequence DNA-binding protein 1;sushi, nidogen and EGF-like domain-containing protein 1 protein-coding ENSG00000162804 24696 PROVISIONAL 1351269 SNAPIN SNAP-associated protein The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 1 1 q21.3 151897824 151900930 + 153631130 153634328 + 1580863;6480464 12477932;11283605;15066994;10195194;19515809;19168546;17684020;16980328;16169070;15862967;15635093;15546961;15489334;15231748;15102850;14702039;12877659;12809483;12659861;21102408;22890573;17101137;17702749;20237496;21356520;18624398;20360068;21917956;21139048;22779921;12107412;18068530;22203680;22471585;22523426;18029348;21988832;22797916 23557 O95295 AA173972;ABBA01049443;AF086837;AI018675;AK024555;AL592150;AMYH01001405;BC000761;BC004494;BE278772;BI117540;BM051828;BT006753;CD671119;CH471121;NM_012437;NR_052019;NR_052020 AAD11417;AAH00761;AAH04494;AAP35399;BAB14927;CAI18797;EAW53288;EAW53289;NP_036569;O95295 Hs.32018 1658995;1850402;1852281;2141306;2182131;2182552 A007E12;Cda0cg07;D14S1187;RH12842;WI-15073;WI-17491 BLOC1S7;BLOS7;SNAPAP BLOC-1 subunit 7;OTTHUMP00000035157;SNAP-25-binding protein;SNARE associated protein snapin;SNARE-associated protein Snapin;biogenesis of lysosomal organelles complex-1, subunit 7;biogenesis of lysosome-related organelles complex 1 subunit 7;synaptosomal-associated protein 25-binding protein APPROVED protein-coding ENSG00000143553 17145 06111 607007 REVIEWED 733186 SNCA synuclein, alpha (non A4 component of amyloid precursor) Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Four alternatively spliced transcripts encoding two different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009] 4 4 q21 90865728 90977156 - 90645250 90759447 - 1302528;1302527;1300048;730239;1580863;1302872;1302570;1302583;631849;6480095;6218960;6478716;6478704;6478794;6480098;6478802;6480091;6478792;6478799;6480094;6480103;6218996;6480199;6480195;6480197;6480198;6480196;6480200;6478703;6480464;6907045;7240710 11572944;10678833;12122208;14556719;10707987;10746727;12665621;10557341;18800064;19198857;20697047;17448146;10934140;15147505;9749615;18577885;15499605;10651022;11733371;11810180;12657883;14637093;9197268;12684441;9462735;12410393;21264917 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6622 D6RA31;E7EPV7;H6UYS5;P37840 ABBA01063566;ABBA01063567;AC093759;AC097478;AC108208;AF163864;AI815523;AK290169;AMYH01014389;AY049786;AY547269;AY548761;BC013293;BC108275;CH471057;CR457058;CR541653;CR736451;D31839;DA391115;DQ088379;FB659846;HQ830267;HQ830268;HQ830269;JN709859;JN709860;JN709861;JN709862;JN709863;JN709864;JN709865;JN709866;JN709867;JN709868;JN709869;L08850;L36674;L36675;NG_011851;NM_000345;NM_001146054;NM_001146055;NM_007308;U46901 AAA16117;AAA98487;AAA98493;AAC02114;AAG30302;AAG30303;AAH13293;AAI08276;AAL15443;AAS57868;AAS83394;AAY40956;AAY88735;ABM83490;ABW03506;AEG20815;AEG20816;AEG20817;AFA25669;AFA25670;AFA25671;AFA25672;AFA25673;AFA25674;AFA25675;AFA25676;AFA25677;AFA25678;AFA25679;BAA06625;BAF82858;CAG33339;CAG46454;CAS01777;EAX06035;EAX06036;NP_000336;NP_001139526;NP_001139527;NP_009292;P37840 Hs.21374 1697986;1713105;1745077;1745079;1745101;1767749;1779159;1787872;1847701;1847703;2129396;2130704;2140264;2167167;2173153;2176436;2184807;5017989;5093488;5093934;5095215;5115616 1332;A009P36;A009Z12;D4S2505E;D4S3159;D4S3299;D4S3486;D4S3487;G32748;G33009;GDB:593720;GDB:593735;GDB:594029;RH102522;RH120340;SHGC-13157;SHGC-173536;SHGC-50183;SHGC-59776;SHGC-67637;SNCA_s25;STS-R93996 MGC110988;NACP;PARK1;PARK4;PD1 OTTHUMP00000161559;OTTHUMP00000161560;OTTHUMP00000161561;OTTHUMP00000218549;OTTHUMP00000218550;OTTHUMP00000218551;OTTHUMP00000218552;OTTHUMP00000218553;OTTHUMP00000218554;Parkinson disease (autosomal dominant, Lewy body) 4;alpha-synuclein;alpha-synuclein, isoform NACP140;non A-beta component of AD amyloid;non-A beta component of AD amyloid;non-A4 component of amyloid;synuclein alpha-140;synuclein, alpha APPROVED protein-coding ENSG00000145335 11138 01227 127750;163890;168601;605543 REVIEWED 1602003 SND1-IT1 SND1 intronic transcript 1 (non-protein coding) 7 7 7 q31 122440968 122443537 + 127424798 127427366 + 127637562 127640130 + 6480464 14702039;12690205;12477932 27099 Q9HBX3 AACC02000001;ABBA01057681;AC008039;AF095687;AF191492;AK024176;AMYH01017914;BC093748;BC112141;CH236947;NR_027330 AAC96312;AAG28385;BAG51268;EAL24317 Hs.657377 1649405;1663214;1778613;2145424;2220586 A008Q29;D7S2081E;D7S2823;RH46056;UniSTS:485657 C7orf54;MGC138346;NAG8;NSG-X APPROVED miscrna 24158 18483 VALIDATED 1345963 SNCG synuclein, gamma (breast cancer-specific protein 1) This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010] 10 10 q23.2-q23.3 88708395 88712995 + 88718288 88723017 + 1580863;6480095;6478704;6480098;6478802;6478792;6478801;6478795;6478696;6478797;6480100;6480195;6218971;6218958;6480464 10557341;20697047;10934140;15147505;18577885;15221989;16821081;19246516;16140929;11933054;14637093;18728752;20579003 18849443;11812782;17353931;19429025;19351749;19016751;18544996;18498014;18424589;17681534;17534899;17373700;17369845;17016652;16989287;18803290;16816827;16786148;16597821;16596223;15596044;15591046;15489334;15342556;15073123;14576821;14556204;12970872;12873981;12783249;12667059;12566312;12559990;12477932;12446933;12121974;12072430;11806835;11746666;11585599;11259122;10852916;10828462;10619569;10192768;10048491;9801372;9737786;9700196;9044857;8125298;21593311;20595634;20670935;20604972;19706805;19859996;20043104;20577925;22905097;20437261;22939629;22261620;23242284;22015044;21740810;21959308;22201822;22294286;21044950;23129765;22440249;21117662 6623 F8W754;O76070;Q6FHG5 ABBA01033689;AC025268;AF010126;AF017256;AF037207;AF044311;AF411524;AK223367;AK312141;AMYH01002903;BC014098;BP346786;CH471142;CR541788;CR541790;EU019993;NG_008783;NM_003087 AAB64109;AAC27738;AAC36550;AAC36586;AAH14098;AAL05870;ABM83260;ABM83431;ABM86645;ABS18760;ABW03516;BAD97087;BAG35077;CAG46587;CAG46589;EAW80315;EAW80316;EAW80317;EAW80318;NP_003078;O76070 Hs.349470 BCSG1;SR OTTHUMP00000020012;OTTHUMP00000020013;breast cancer-specific gene 1 protein;gamma-synuclein;persyn;synoretin APPROVED protein-coding ENSG00000173267 11141 04297 602998 REVIEWED 1603226 SNHG1 small nucleolar RNA host gene 1 (non-protein coding) 11 11 11 q12.3 59942856 59946756 - 62376036 62379936 - 62619460 62623360 - 6480464 7985025;16344560;14702039;12477932;9387929;8559254;23801869 23642 ABBA01003246;AK095849;AMYH01003691;AP001160;BC000839;BC011809;BC017253;BC027980;BC063571;DA856235;L36587;L36588;NR_003098;U40580 Hs.655643 1792336;2132004;2185573 AF081279;D11S4685;PMC14794P1 LINC00057;NCRNA00057;U22HG;UHG miscrna ENSG00000255717 32688 603222 PROVISIONAL 1603252 SNHG10 small nucleolar RNA host gene 10 (non-protein coding) This gene is small nucleolar RNA host gene 10 and represents a non-protein coding RNA. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] 14 14 14 q32.13 76054937 76056896 - 95069002 95070962 - 95999249 96001209 - 6480464 14702039;12477932;8889548 283596 ABBA01048602;AK097876;AL133467;AMYH01005975;BC036576;CA313768;CV813093;NG_021217;NG_033103;NR_001459;NR_003138 Hs.448753 1685726;1685728 RH93740;RH98225 C14orf62;FLJ40557;LINC00063;NCRNA00063 miscrna 27510 REVIEWED 1601936 SNHG11 small nucleolar RNA host gene 11 (non-protein coding) This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008] 20 20 20 q11.23 33784102 33788368 + 36508711 36512978 + 37075297 37079564 + 6480464 14702039;12477932;20532202;11181995 128439 ABBA01052525;AK055434;AL049868;AMYH01011905;BC040237;CH471077;NR_003239 Hs.16936 1693428;2149506 AL034527;WI-14331 C20orf198;LINC00101;NCRNA00101 APPROVED miscrna ENSG00000174365 25046 11814 VALIDATED 733231 SND1 staphylococcal nuclease and tudor domain containing 1 7 7 q31.3 127079438 127519895 + 127292202 127732659 + 6480464 17353931;7651391;18029348;19435788;18453631;17909068;17632523;17576664;17081983;17081065;15695802;15627504;15592455;15489334;14702039;12917451;12819296;12477932;12234934;11691653;11124528;9809063;9003410;8756344;10644367;9874765;11259168;21145461;21319273;19913121;20628086;20643132;22396537;20225206;20562859;19615732;20379614;20442744;20484005;16914450;20211142;20877624;21148275;21478147;21832049;22863883;22939629;21252943;16051665;18781797;19596686;21936566;21987572;19471022;21890473;21906983;21139048;22379092;22586326;22745804;19738201;21963094;21988832;22113938;22623428;23000965;23065261;23532257;22053931;22505724;22797925;22944692 27044 H7C597;Q7KZF4 AACC02000001;AB209510;ABBA01057678;ABBA01057679;ABBA01057680;ABBA01057681;ABBA01057682;ABBA01057683;ABBA01057684;AC006529;AC008039;AC009181;AC073934;AK096583;AK304181;AK309014;AK312313;AMYH01017912;AMYH01017913;AMYH01017914;AMYH01017915;AY273894;BC017180;BC020423;BE799345;BM149154;BQ217773;BT009785;CH236947;CH471070;NM_014390;U22055 AAA80488;AAH17180;AAP31683;AAP88787;ABM84558;ABM86455;BAD92747;BAG35238;BAG53329;BAG65061;EAW83635;EAW83636;EAW83637;NP_055205;Q7KZF4 Hs.122523 1336159;1338812;1644033;1645994;1649405;1651485;1652578;1654424;1658249;1663214;1693494;1715365;1717639;1727851;1747613;1767029;1769786;1778613;1789134;2123944;2124182;2138862;2141097;2145424;2147338;2148416;2165990;2171253;2176737;2176854;2187050;2218042;2220586;5111251;7185049;7186531;7186925 A008Q29;A009A30;C016YC9;D7S2081E;D7S2389;D7S2501;D7S2823;D7S2940;D7S2943;D7S504;G17149;G63341;G65517;G65703;GDB:1318687;GDB:4585141;GDB:4585650;RH120514;RH122124;RH12231;RH18311;RH46056;RH47193;RH47485;SHGC-152675;SHGC-31025;SHGC-35064;SHGC-58325;SND1_3572;STS-H23117;STS-T91284;UniSTS:485657;WI-14761;WI-15275 TDRD11;p100 100 kDa coactivator;EBNA-2 co-activator (100kD);EBNA2 coactivator p100;OTTHUMP00000212277;SND1-BRAF fusion;p100 EBNA2 co-activator;p100 co-activator;p105 coactivator;staphylococcal nuclease domain containing 1;staphylococcal nuclease domain-containing protein 1;tudor domain-containing protein 11 protein-coding ENSG00000197157 30646 03714 602181 VALIDATED 1605604 SNHG12 small nucleolar RNA host gene 12 (non-protein coding) 1 1 1 p35.3 27300816 27304132 - 28777641 28782076 - 28905050 28908366 - 6480464 16710414;14702039;12477932 85028 Q9BXW3 ABBA01035043;AF277181;AK092096;AL513497;AMYH01000433;AY277594;BC022205;BC045792;BC064589;BC068048;CH471059;NR_024127 AAK07540;AAQ18033;EAX07686;Q9BXW3 Hs.632377 1779132;2128422 RH77841;SHGC-74498 C1orf79;LINC00100;NCRNA00100;RP4-669K10.5 miscrna ENSG00000197989 30062 PREDICTED 6893175 SNHG16 small nucleolar RNA host gene 16 (non-protein coding) 17 74553846 74561430 + 19287950;21147498;12477932 100507246 F2Z347;K7EKJ2;K7EM10;K7ER41 AB447886;ABBA01028738;AC015802;AMYH01008645;BC042949;BC100293;BX647993;NR_038108;NR_038109;NR_038110;NR_038111 Hs.288215 1698056;1744361;2190371;5015404;5020946;5022588 D17S2244;D5S1597E;GDB:451818;L17705;L17971;RH102560 ncRAN miscrna ENSG00000163597 44352 VALIDATED 1604833 SNF8 SNF8, ESCRT-II complex subunit SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 43461656 43476351 - 44362457 44377153 - 47007458 47022154 - 4892619;6480464;6907045 19535733 10419521;17714434;16973552;16371348;16189514;15755741;15489334;15329733;14519844;14505570;12477932;11278625;17207965;21378990;11031247;15218037;22863883;22939629;21987572;21139048;21890473;21906983;18539118;21963094;21988832;23000965;23171048;19819239;17010938;22505724;22978549 11267 D6RBI1;D6RFY6;D6RJ86;H0Y8S5;I3L2X5;I3L457;K7EPV2;Q96H20 ABBA01041183;AC091133;AF156102;AMYH01008459;BC008976;BC038830;CH471109;NM_007241 AAD46560;AAH08976;AAH38830;ADQ31826;EAW94698;EAW94699;EAW94700;NP_009172;Q96H20 Hs.127249 1341843;2108043 D17S1827;EAP30_9250 Dot3;EAP30;VPS22 EAP30 subunit of ELL complex;ELL-associated protein of 30 kDa;ESCRT-II complex subunit VPS22;OTTHUMP00000218490;OTTHUMP00000218491;SNF8, ESCRT-II complex subunit, homolog;hVps22;vacuolar-sorting protein SNF8 APPROVED protein-coding 17028 16847 610904 PROVISIONAL 7248517 SNHG18 small nucleolar RNA host gene 18 (non-protein coding) 16341674;16344560;8889548 100505806 ABBA01020592;AC034214;AMYH01014902;BM676492;BM796927;DA542304;NR_045196 Hs.34447 miscrna ENSG00000250786 49007 VALIDATED 1602236 SNHG6 small nucleolar RNA host gene 6 (non-protein coding) 8 8 8 q13 63827659 63831271 - 67996719 68000331 - 67834165 67837777 - 6480464 16226852 641638 ABBA01041882;AC011031;AMYH01018774;AY264285;NR_002599 Hs.372680 1653537;1735750;2161197 D8S1363E;RH47443;STS-AA035428 HBII-276HG;NCRNA00058;U87HG miscrna 32965 612215 PROVISIONAL 1601702 SNHG15 small nucleolar RNA host gene 15 (non-protein coding) 7 7 7 p13 45121376 45125025 - 44989152 44992784 - 45022627 45026259 - 6480464 14702039;12690205;12477932 285958 AACC02000110;ABBA01058244;AC004847;AK096179;AMYH01017219;BC092459;CH236960;NR_003697 Hs.25892 1778548 STS-R52131 C7orf40;FLJ38860 APPROVED miscrna ENSG00000232956 27797 PROVISIONAL 1603325 SNHG4 small nucleolar RNA host gene 4 (non-protein coding) 5 5 5 q31.2 134731161 134740599 + 138609778 138615286 + 138609441 138618873 + 6480464 19240791;16344560;15146197;9630250;8657112 724102 ABBA01068644;AC011404;AJ224167;AJ224168;AJ224170;AMYH01015649;CN337312;DA203569;DB192707;NG_012846;NR_003141;NR_036536 Hs.268939 1780630;5022578 D1S1423;bac51452T NCRNA00059;U19H miscrna 32964 VALIDATED 1604665 SNHG9 small nucleolar RNA host gene 9 (non-protein coding) 16 16 16 p13.3 2227179 2227687 + 1954998 1955506 + 2014997 2015505 + 6480464 735301 ABBA01030285;AC005363;AMYH01007046;CR749453;NR_003142 Hs.115329 1712348 G54162 DKFZp686N06141;NCRNA00062 miscrna ENSG00000255198 33102 PROVISIONAL 7244404 SNHG17 small nucleolar RNA host gene 17 (non-protein coding) 12477932;14702039;16341674;16344560;8889548 388796 ABBA01052524;ABBA01052525;AK022745;AL080249;AMYH01011905;BC012894;BC032119;BC052370;BM714185;BM796603;BX640887;DA687932;NR_015366;NR_027241 Hs.400876 1338575;2148238;5014023;5015879;5016478;5020946;5022578;5022651 D11S2921;D13S1553;D1S1423;D20S881;GDB:314949;GDB:434012;L17971;WI-17688 miscrna ENSG00000196756 48600 PREDICTED 1642405 SNHG3-RCC1 SNHG3-RCC1 readthrough transcript 1 1 1 p36.1 27228273 27261373 + 28705083 28738194 + 28832496 28865607 + 12477932;3678831 751867 AL513497;BF590413;BF667678;BU501614;BU622451;BX109495;CB985055;NM_001048197;NM_001048198;NM_001048199;NR_030725;NR_030726 NP_001041662;NP_001041663;NP_001041664 Hs.469723;Hs.723831 OTTHUMP00000003775;OTTHUMP00000211004;OTTHUMP00000211006;OTTHUMP00000211007;OTTHUMP00000211009;regulator of chromosome condensation 1 protein-coding 1602758 SNORA1 small nucleolar RNA, H/ACA box 1 11 11 11 q21 90756622 90756751 - 93104818 93104947 - 93465170 93465299 - 6480464 16381836;15199136;19446021 677792 ABBA01040043;AJ609425;AMYH01003959;AP001273;NR_003026 Hs.689724 2147584 D11S4684 ACA1 snorna ENSG00000206834 32557 PROVISIONAL 1602252 SNORA10 small nucleolar RNA, H/ACA box 10 16 16 16 p13.3 2224517 2224649 - 1952336 1952468 - 2012335 2012467 - 16381836;15199136;19446021 574042 ABBA01030285;AC005363;AJ609432;AMYH01007046;NR_002327 Hs.679928 1649282;1712348 G54162;RP_S2_1 ACA10 snorna 32598 PROVISIONAL 1602751 SNORA11 small nucleolar RNA, H/ACA box 11 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] X X X p11.21 58673363 58673493 + 54857528 54857658 + 54840803 54840933 + 16381836;16361266;19446021 677799 ABBA01069586;AM055729;AMYH01022432;NG_012844;NR_002953;Z98046 Hs.679783 1682181 RH64607 SNORA11A;U107 APPROVED snorna 32599 300662 VALIDATED 1642098 SNORA11B small nucleolar RNA, H/ACA box 11B 14 14 14 q32.12 71641217 71641343 + 90662523 90662649 + 91592770 91592896 + 6480464 16990247;19446021 100124539 ABBA01030487;AL121784;AMYH01005949;NR_003709 Hs.693444 APPROVED snorna ENSG00000221102 33620 VALIDATED 1642096 SNORA11D small nucleolar RNA, H/ACA box 11D X X X p11.22 55921742 55921868 + 51933718 51933844 + 51933718 51933844 + 16990247;19446021 100124541 ABBA01059939;AC245177;AL928717;AMYH01022351;NR_003711 Hs.709779 FLJ39060 snorna 33622 VALIDATED 1642097 SNORA11C small nucleolar RNA, H/ACA box 11C X X X p11.3 51443307 51443433 + 47132993 47133119 + 47248049 47248175 + 16990247;19446021 100124540 ABBA01052348;AL591503;AMYH01022262;NR_003710 Hs.693443 APPROVED snorna 33621 VALIDATED 1349550 SNHG5 small nucleolar RNA host gene 5 (non-protein coding) This gene is a member of both the non-protein-coding multiple snoRNA host gene family and the 5'-terminal oligopyrimidine (5' TOP) class of genes. Two snoRNAs are derived from the introns of this host gene but, although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. The gene is located at the chromosomal translocation breakpoint involved in B-cell lymphoma. [provided by RefSeq, Jul 2008] 6 6 6 q14.3 86813919 86815645 - 86443444 86445170 - 86386725 86388451 - 6480464 12477932;10792466 387066 AB017710;ABBA01040478;AL355615;AMYH01016480;BC009220;BC108291;CD384894;CD388674;NR_003038 Hs.292457 1659002;1857426;1858337;2142996;2176557 RH41933;RH46859;SHGC-33135;SHGC-58311;WI-13410 C6orf160;LINC00044;MGC16362;NCRNA00044;U50HG;bA33E24.2 APPROVED miscrna ENSG00000203875 21026 613263 VALIDATED 1642113 SNORA11E small nucleolar RNA, H/ACA box 11E X X X p11.22 55921742 55921868 - 51823183 51823309 - 51806443 51806569 + 16990247;19446021 101340250 BX537154;NR_102368 snorna 33623 VALIDATED 1602596 SNORA12 small nucleolar RNA, H/ACA box 12 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 10 10 10 q24.31 95734870 95735016 - 101986903 101987049 - 101996913 101997059 - 16381836;16361266;19446021 677800 ABBA01063229;AL138921;AM055730;AMYH01002997;NR_002954 Hs.662165 U108 APPROVED snorna 32600 611330 PROVISIONAL 1602777 SNORA13 small nucleolar RNA, H/ACA box 13 5 5 5 q22.2 107442901 107443033 + 111525081 111525213 + 111497182 111497314 + 16381836;15199136;3342024;19446021 654322 ABBA01069062;AC010261;AJ609455;AMYH01015547;NR_002922 Hs.689709 ACA13 snorna ENSG00000238363 32601 PROVISIONAL 1602595 SNORA14A small nucleolar RNA, H/ACA box 14A Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 1. [provided by RefSeq, Oct 2008] 7 7 7 q11.23 70441647 70441780 + 75411037 75411170 + 75573101 75573234 + 16381836;15199136;19446021 677801 ABBA01005894;AC005067;AJ609456;AMYH01017557;NG_008930;NR_002955 Hs.689708 ACA14a APPROVED snorna ENSG00000201643 32602 REVIEWED 1602594 SNORA14B small nucleolar RNA, H/ACA box 14B Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 7. [provided by RefSeq, Oct 2008] 1 1 1 q42.3 208533753 208533887 - 233357741 233357875 - 235291118 235291252 - 6480464 16381836;15199136;19446021 677802 ABBA01033118;AJ609457;AL732292;AMYH01001841;NR_002956 Hs.744743 ACA14b APPROVED snorna 32603 REVIEWED 1602593 SNORA15 small nucleolar RNA, H/ACA box 15 7 7 7 p11.2 67181565 67181697 + 56095657 56095789 + 56128163 56128295 + 16381836;15199136;19446021 677803 ABBA01061849;AC092101;AJ609458;AMYH01017277;NR_002957 Hs.689706 ACA15 snorna 32604 PROVISIONAL 1602745 SNORA16A small nucleolar RNA, H/ACA box 16A 1 1 1 p35.3 27303198 27303331 - 28780019 28780152 - 28907432 28907565 - 16381836;15199136;19446021 692073 ABBA01035043;AJ609433;AL513497;AMYH01000433;NR_003035 Hs.742409 1779132;2128422 RH77841;SHGC-74498 ACA16 snorna ENSG00000207070 32605 PROVISIONAL 1602536 SNORA16B small nucleolar RNA, H/ACA box 16B 1 1 q32.3 185751784 185751916 + 212526160 212526292 + 16381836;14602913;19446021 692157 ABBA01048179;AL360091;AMYH01001707;AY349599;NR_004389 Hs.707958 U98b snorna 32606 PROVISIONAL 1602592 SNORA17 small nucleolar RNA, H/ACA box 17 9 9 9 q34.3 110134317 110134449 - 138741020 138741152 - 139621199 139621331 - 16381836;15199136;19446021 677804 ABBA01022719;AJ609434;AL355987;AMYH01021870;NR_002958 Hs.495480 ACA17 snorna ENSG00000212487 32607 PROVISIONAL 1602591 SNORA18 small nucleolar RNA, H/ACA box 18 11 11 11 q21 90758084 90758215 - 93106280 93106411 - 93466632 93466763 - 16381836;15199136;19446021 677805 ABBA01040043;AJ609471;AMYH01003959;AP001273;NR_002959 Hs.732267 2147584 D11S4684 ACA18 snorna ENSG00000207145 32608 PROVISIONAL 1602603 SNORA19 small nucleolar RNA, H/ACA box 19 10 10 10 q26 114550166 114550293 - 120809513 120809640 - 120819523 120819650 - 6480464 16381836;15199136;9047361;19446021 641451 ABBA01062921;AJ609435;AL355598;AMYH01003108;NR_002917 Hs.688653 ACA19 snorna 32609 PROVISIONAL 1602590 SNORA20 small nucleolar RNA, H/ACA box 20 6 6 6 q25.3 160847359 160847490 - 160121272 160121403 - 160201282 160201413 - 16381836;15199136;19446021 677806 ABBA01021060;AJ609459;AL135914;AMYH01016804;NG_023389;NR_002960 Hs.689705 5117186 GDB:451649 ACA20 snorna 32610 VALIDATED 1602589 SNORA22 small nucleolar RNA, H/ACA box 22 7 7 7 q11.21 58335933 58336066 + 64857948 64858081 + 65220513 65220646 + 16381836;15199136;19446021 677807 ABBA01049024;AC073107;AJ609437;AMYH01017482;NR_002961 Hs.675336 ACA22 snorna ENSG00000206634 32612 PROVISIONAL 1602588 SNORA23 small nucleolar RNA, H/ACA box 23 11 11 11 p15.4 9572017 9572205 + 9406889 9407077 + 9450313 9450501 + 16381836;15199136;19446021 677808 ABBA01061181;AC132192;AJ609438;AMYH01003381;NR_002962 Hs.689720 ACA23 snorna 32613 PROVISIONAL 1602587 SNORA24 small nucleolar RNA, H/ACA box 24 4 4 4 q26 116491469 116491599 + 119419793 119419923 + 119200345 119200475 + 6480464 16381836;15199136;19446021 677809 ABBA01063873;AC096762;AJ609460;AMYH01014483;NG_023350;NR_002963 Hs.744742 ACA24 snorna ENSG00000206823 32614 VALIDATED 1602847 SNHG7 small nucleolar RNA host gene 7 (non-protein coding) 9 9 q34.3 110132169 110135754 - 139619046 139622636 - 6480464 14702039;12477932 84973 ABBA01022719;AK090585;AL355987;AMYH01021870;BC007651;BC042369;BC042667;BC055011;BC059956;BC061888;NR_003672;NR_024542;NR_024543 Hs.495480 1748479;2155466;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;RH73;SHGC-32749 MGC16037;NCRNA00061 miscrna ENSG00000233016 28254 VALIDATED 1601779 SNORA25 small nucleolar RNA, H/ACA box 25 11 11 11 q21 90755131 90755264 - 93103327 93103460 - 93463679 93463812 - 6480464 16381836;15199136;19446021 684959 ABBA01040043;AJ609461;AMYH01003959;AP001273;NR_003028 Hs.738736 1675686 RH35 ACA25 snorna ENSG00000207112 32615 PROVISIONAL 1602586 SNORA26 small nucleolar RNA, H/ACA box 26 4 4 4 q12 51075982 51076103 + 53274173 53274294 + 53579416 53579537 + 16381836;11387227;19446021 677810 ABBA01003380;AC104066;AMYH01014179;NR_003016 Hs.635034 HBI-6 snorna ENSG00000212588 32616 614626 PROVISIONAL 1350602 SNHG3 small nucleolar RNA host gene 3 (non-protein coding) 1 1 p36.1 27228232 27233181 + 28832455 28837404 + 6480464 16344560;12477932;9671460;14702039 8420 ABBA01035034;AF075052;AJ006834;AJ006835;AK092726;AK311577;AL513497;AMYH01000431;BC006790;BC012122;BC017334;BC065008;DA044266;DA135739;NR_002909;NR_036473 Hs.469723 1767391;1854138;2133826;2133828;5020946;5024413;5037552;5093636;5126835 A009U10;D8S2279;G32835;L17877;L17971;PMC14794P2;RH68391;SHGC-32496;SHGC-74505 FLJ18619;NCRNA00014;RNU17C;RNU17D;U17HG;U17HG-A;U17HG-AB rna, u17d small nucleolar;small nucleolar RNA host gene (non-protein coding) 3 miscrna ENSG00000242125 10118 603238 VALIDATED 1602377 SNORA27 small nucleolar RNA, H/ACA box 27 13 13 13 q12.2 8898411 8898536 + 26727538 26727663 + 27829538 27829663 + 16381836;15199136;9047361;19446021 619499 AB061826;ABBA01035750;AJ609439;AL159977;AMYH01004987;NR_002575 Hs.689719 ACA27 snorna 32617 PROVISIONAL 1602585 SNORA28 small nucleolar RNA, H/ACA box 28 14 14 14 q32.32 83858363 83858488 + 102873939 102874064 + 103804186 103804311 + 6480464 16381836;15199136;19446021 677811 ABBA01048430;AJ609462;AL138976;AMYH01006045;NR_002964 Hs.658237 ACA28 snorna 32618 PROVISIONAL 1602584 SNORA29 small nucleolar RNA, H/ACA box 29 6 6 6 q25.3 160852710 160852849 - 160126616 160126755 - 160206626 160206765 - 6480464 16381836;15199136;19446021 677812 ABBA01021060;AJ609472;AL135914;AMYH01016804;NR_002965 Hs.743896 ACA29 snorna 32619 PROVISIONAL 1602245 SNORA3 small nucleolar RNA, H/ACA box 3 11 11 11 p15 8823406 8823535 + 8662350 8662479 + 8705774 8705903 + 16381836;15199136;9047361;19446021 619562 ABBA01061210;AC091053;AJ609428;AMYH01003377;NR_002580 Hs.523463 2116450 SGC31250 ACA3 snorna 32586 PROVISIONAL 1602246 SNORA21 small nucleolar RNA, H/ACA box 21 17 17 17 q12 33670085 33670217 - 34262642 34262774 - 37009116 37009248 - 16381836;15199136;14702039;9047361;19446021 619505 ABBA01031895;AC110749;AJ609436;AK095288;AMYH01008369;NR_002576 Hs.738742 ACA21 snorna 32611 PROVISIONAL 1602757 SNORA2A small nucleolar RNA, H/ACA box 2A 12 12 12 q13.11 47846415 47846549 - 47336698 47336832 - 49050431 49050565 - 6480464 16381836;15199136;19446021 677793 ABBA01031482;AC079951;AJ609426;AMYH01004434;NR_002950 Hs.689723 ACA2A snorna 32584 PROVISIONAL 1602756 SNORA2B small nucleolar RNA, H/ACA box 2B 12 12 12 q13.11 47857223 47857359 - 47347507 47347643 - 49061240 49061376 - 16381836;15199136;19446021 677794 ABBA01031482;AC079951;AJ609427;AMYH01004434;NR_002951 Hs.683444 ACA2b snorna 32585 PROVISIONAL 1602747 SNORA32 small nucleolar RNA, H/ACA box 32 11 11 11 q21 90755597 90755717 - 93103793 93103913 - 93464145 93464265 - 16381836;15199136;19446021 692063 ABBA01040043;AJ609442;AMYH01003959;AP001273;NR_003032 Hs.738740 ACA32 snorna ENSG00000206799 32622 PROVISIONAL 1602582 SNORA31 small nucleolar RNA, H/ACA box 31 13 13 13 q14.13 26967743 26967872 - 44809615 44809744 - 45911615 45911744 - 16381836;15199136;19446021 677814 ABBA01021208;AJ609441;AL138963;AMYH01005087;NR_002967 Hs.738741 1647492;1681664;5038551 G26329;RH41035;RH68285 ACA31 snorna 32621 PROVISIONAL 1602583 SNORA30 small nucleolar RNA, H/ACA box 30 16 16 16 p11.2 29575563 29575691 - 30629359 30629487 + 30721858 30721986 + 16381836;15199136;19446021 677813 ABBA01042055;AC106886;AJ609440;AMYH01007498;NG_032135;NR_002966 Hs.689718 ACA30 snorna 32620 VALIDATED 1625827 SNHG8 small nucleolar RNA host gene 8 (non-protein coding) 4 4 4 q26 116491041 116492102 + 119419362 119420424 + 119199917 119200978 + 6480464 15199136;12477932;16341674;8889548 100093630 ABBA01063873;AC096762;AMYH01014483;BC017993;BC039555;BM845860;CD520851;CF124302;NG_023350;NR_003584;NR_034010;NR_034011 Hs.535762 2144618;5020479 SHGC-59624;SHGC-59631 LINC00060;NCRNA00060 miscrna ENSG00000269893 33098 VALIDATED 1602580 SNORA35 small nucleolar RNA, H/ACA box 35 X X X q23 114300443 114300570 + 113771515 113771642 + 113865259 113865386 + 6480464 16381836;15199136;19446021 677816 ABBA01053591;AC007025;AC233299;AMYH01022851;NR_002993 Hs.693123 HBI-36 snorna ENSG00000208839 32625 PROVISIONAL 1602581 SNORA34 small nucleolar RNA, H/ACA box 34 12 12 12 q13.11 47844149 47844285 - 47334432 47334568 - 49048165 49048301 - 16381836;15199136;19446021 677815 ABBA01031482;AC079951;AJ609443;AMYH01004434;NR_002968 Hs.689717 ACA34 snorna 32624 PROVISIONAL 1602578 SNORA36B small nucleolar RNA, H/ACA box 36B 1 1 1 q41 193593099 193593229 - 218440511 218440641 + 220373888 220374018 - 16381836;15199136;19446021 677818 ABBA01048081;AL445435;AMYH01001742;NG_015837;NR_002994 Hs.730572 ACA36b snorna 32629 VALIDATED 1642102 SNORA36C small nucleolar RNA, H/ACA box 36C 2 2 2 p14 69597783 69597910 - 69600680 69600807 - 69747176 69747303 - 16990247;19446021 100124535 ABBA01075506;AC079121;AMYH01010421;NR_003705 Hs.693447 APPROVED snorna 33616 PROVISIONAL 1602577 SNORA37 small nucleolar RNA, H/ACA box 37 18 18 18 q21.2 48604949 48605077 - 50002652 50002780 - 51748654 51748782 - 16381836;15199136;19446021 677819 ABBA01018714;AC093462;AJ609444;AMYH01009010;NG_029550;NR_002970 Hs.655869 1791396 PMC109239P1 ACA37 snorna 32630 VALIDATED 1642101 SNORA38B small nucleolar RNA, H/ACA box 38B 17 17 17 q24.2 62308852 62308983 + 63167248 63167379 + 65736786 65736917 + 16990247;19446021 100124536 ABBA01028983;AC006534;AMYH01008585;NR_003706 Hs.693446 APPROVED snorna 33617 VALIDATED 1602575 SNORA39 small nucleolar RNA, H/ACA box 39 20 20 20 q11.23 33785532 33785667 + 36510140 36510275 + 37076726 37076861 + 16381836;15199136;19446021 677821 ABBA01052525;AJ609475;AL049868;AMYH01011905;NR_002972 Hs.741059 ACA39 snorna ENSG00000201902 32632 PROVISIONAL 1602240 SNORA4 small nucleolar RNA, H/ACA box 4 3 3 3 q27 184941564 184941700 + 187988096 187988232 + 186505402 186505538 + 6480464 16381836;15199136;19446021 619568 ABBA01058381;AC112907;AJ609452;AMYH01013736;NR_002588 Hs.743897 1735188 D3S2828E ACA4 snorna 32587 PROVISIONAL 1602574 SNORA40 small nucleolar RNA, H/ACA box 40 11 11 11 q21 90759728 90759854 - 93107924 93108050 - 93468276 93468402 - 16381836;15199136;19446021 677822 ABBA01040043;AJ609445;AMYH01003959;AP001273;NR_002973 Hs.741062 1668602;1754157 D11S4346;SHGC-132183 ACA40 snorna ENSG00000210825 32633 PROVISIONAL 1602579 SNORA36A small nucleolar RNA, H/ACA box 36A Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009] X X X q28 154155367 154155498 + 153649997 153650128 + 153996803 153996934 + 16381836;15199136;19446021 677817 ABBA01029081;AC109993;AJ609463;AMYH01023318;NG_009780;NR_002969 Hs.689704 1817288;1818222;1825984;2039150;2039152;2039154;2039156;2039158;2039160;2039162;2039164;2039166;2039168;2102892 ECD09694;ECD10168;ECD14101;REN90596;REN90597;REN90598;REN90599;REN90600;REN90601;REN90602;REN90603;REN90604;REN90605;stSG604277 ACA36 APPROVED snorna 32628 REVIEWED 1602239 SNORA41 small nucleolar RNA, H/ACA box 41 2 2 2 q33 200784382 200784513 + 206735197 206735328 + 207026952 207027083 + 6480464 16381836;15199136;3342024;19446021 619569 ABBA01062650;AC007383;AJ609464;AMYH01011436;NG_009248;NR_002590 Hs.742407 ACA41 snorna 32634 VALIDATED 1602573 SNORA42 small nucleolar RNA, H/ACA box 42 1 1 1 q22 128962604 128962737 - 154156324 154156457 - 155889700 155889833 - 16381836;15199136;19446021;21986946 677823 ABBA01016680;AJ609465;AL355388;AMYH01001433;NR_002974 Hs.676501 ACA42 snorna 32635 PROVISIONAL 1602576 SNORA38 small nucleolar RNA, H/ACA box 38 6 6 6 p21.33 33189079 33189210 + 31698835 31698966 + 31590856 31590987 + 16381836;15199136;19446021 677820 ABBA01038083;AJ609474;AL662801;AL662847;AL805934;AMYH01016217;BX511262;CR354443;CR753892;CR759761;NR_002971 Hs.689700 ACA38 snorna 32631 PROVISIONAL 1602572 SNORA44 small nucleolar RNA, H/ACA box 44 1 1 1 p35.3 27302659 27302790 - 28779480 28779611 - 28906893 28907024 - 16381836;15199136;19446021 677825 ABBA01035043;AJ609466;AL513497;AMYH01000433;NR_002976 Hs.632377 1779132;2128422 RH77841;SHGC-74498 ACA44 snorna ENSG00000207314 32637 PROVISIONAL 1602571 SNORA45 small nucleolar RNA, H/ACA box 45 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 11 11 11 p15.4 8824618 8824748 + 8663562 8663692 + 8706986 8707116 + 6480464 16381836;16361266;19446021 677826 ABBA01061210;AC091053;AM055744;AMYH01003377;NR_002977 Hs.523463 2166423;2166425;2189341 D11S4394;MARC_1767-1768:991931306:1;RP_L27A_1 ACA3-2 APPROVED snorna 32638 611333 PROVISIONAL 1602570 SNORA46 small nucleolar RNA, H/ACA box 46 16 16 16 q21 43081399 43081533 - 57139904 57140038 - 58582403 58582537 - 16381836;15199136;19446021 677827 ABBA01025307;AC009118;AC010287;AJ609467;AMYH01007713;NR_002978 Hs.688592 ACA46 snorna 32639 PROVISIONAL 1602569 SNORA47 small nucleolar RNA, H/ACA box 47 5 5 5 q13.3 72270556 72270693 - 76412015 76412152 - 76376259 76376396 - 16381836;11387227;19446021 677828 ABBA01061977;AC008581;AMYH01015425;NR_003014 Hs.693249 HBI-115 snorna ENSG00000238961 32640 PROVISIONAL 1602941 SNORA48 small nucleolar RNA, H/ACA box 48 17 17 17 p13.1 7504354 7504488 + 7418755 7418889 + 7478031 7478165 + 16381836;15199136;9047361;19446021 652965 ABBA01054873;AC016876;AJ609447;AMYH01008085;NR_002918 Hs.742408 1767709;1853135 A004D02;RH36626 ACA48 snorna 32641 PROVISIONAL 1602568 SNORA49 small nucleolar RNA, H/ACA box 49 12 12 12 q24.33 132134341 132134477 + 131081722 131081858 + 132515769 132515905 + 6480464 16381836;15199136;19446021 677829 ABBA01032798;AC137590;AJ609476;AMYH01004901;NR_002979 Hs.742405 ACA49 snorna 32642 VALIDATED 1602567 SNORA50 small nucleolar RNA, H/ACA box 50 16 16 16 q21 43092696 43092831 - 57151201 57151336 - 58593700 58593835 - 6480464 16381836;15199136;19446021 677830 ABBA01025307;AC010287;AJ609468;AMYH01007713;NR_002980 Hs.677515 ACA50 snorna 32643 PROVISIONAL 1602242 SNORA52 small nucleolar RNA, H/ACA box 52 11 11 11 p15 878230 878363 + 801681 801814 + 811681 811814 + 16381836;15199136;9047361;19446021 619565 ABBA01015211;AJ609448;AMYH01003295;AP006621;NR_002585 Hs.689713 ACA52 snorna 32645 PROVISIONAL 1602249 SNORA33 small nucleolar RNA, H/ACA box 33 6 6 6 q23.2 133885185 133885317 + 133180051 133180183 + 133138358 133138490 + 6480464 16381836;15199136;14702039;19446021 594839 ABBA01025876;AJ609473;AK096147;AL137783;AMYH01016676;NR_002436 Hs.671378 2135319;2143394;5124225;7186901 D6S989;RH47548;RH80451 ACA33 snorna 32623 PROVISIONAL 1602564 SNORA54 small nucleolar RNA, H/ACA box 54 11 11 11 p15.4 3018839 3018961 - 2941577 2941699 - 2985001 2985123 - 6480464 16381836;15199136;20201924;19446021 677833 ABBA01032076;AC131971;AJ609479;AMYH01003326;NR_002982 Hs.689696 ACA54 snorna 32647 PROVISIONAL 1602565 SNORA53 small nucleolar RNA, H/ACA box 53 12 12 12 q23.1 98658126 98658375 + 97517544 97517793 + 98993413 98993662 + 16381836;15199136;19446021 677832 ABBA01053283;AC013283;AMYH01004691;NG_011702;NR_003015 Hs.693250 ACA53 snorna 32646 VALIDATED 1602566 SNORA51 small nucleolar RNA, H/ACA box 51 20 20 20 p13 2700176 2700307 + 2583713 2583844 + 2635713 2635844 + 16381836;15199136;19446021 677831 ABBA01053795;AJ609477;AL049712;AMYH01011668;NG_032136;NR_002981 Hs.689698 ACA51 snorna 32644 VALIDATED 1602563 SNORA55 small nucleolar RNA, H/ACA box 55 1 1 1 p34.3 38314760 38314896 - 39805633 39805769 - 40033046 40033182 - 6480464 16381836;15199136;19446021 677834 ABBA01023207;AJ609480;AL365277;AMYH01000523;NR_002983 Hs.676660 ACA55 snorna 32649 PROVISIONAL 1602562 SNORA56 small nucleolar RNA, H/ACA box 56 Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA. [provided by RefSeq, Feb 2009] X X X q28 154161836 154161964 + 153656467 153656595 + 154003273 154003401 + 16381836;15199136;19446021 677835 ABBA01029082;AC109993;AJ609449;AMYH01023318;NG_009780;NR_002984 Hs.4747 1810830;1812630;2039202;2039204;2039206;2039208;2039210;2039212;2039214;2039216;2102902 ECD06413;ECD07325;REN90622;REN90623;REN90624;REN90625;REN90626;REN90627;REN90628;REN90629;stSG604283 ACA56 APPROVED snorna 32650 REVIEWED 1602545 SNORA59A small nucleolar RNA, H/ACA box 59A 1 1 p36.21 11678835 11678986 + 12567300 12567451 + 16381836;15199136;15252450;19446021 677885 ABBA01003085;AJ609481;AL031296;AMYH01000261;DQ786227;NR_003025 Hs.721005 ACA59 snorna 32653 PROVISIONAL 1602535 SNORA57 small nucleolar RNA, H/ACA box 57 11 11 q12.2 59762472 59762620 + 62432894 62433042 + 16381836;15199136;14602913;19446021 692158 ABBA01003235;AMYH01003690;AP001458;AY349600;NR_004390 Hs.687390 U99 snorna ENSG00000206597 32651 PROVISIONAL 1602561 SNORA58 small nucleolar RNA, H/ACA box 58 3 3 3 q21.2 129623964 129624100 - 132680631 132680767 - 131197842 131198077 - 16381836;15199136;19446021 677836 ABBA01059194;AC107027;AJ609450;AMYH01013497;DW436402;NG_029207;NR_002985 Hs.735762 ACA58 snorna 32652 VALIDATED 1602546 SNORA59B small nucleolar RNA, H/ACA box 59B 17 17 17 p11.2 16873678 16873829 + 19401465 19401616 + 19460873 19461024 + 16381836;15199136;19446021 677882 ABBA01054604;AC025627;AMYH01008235;DQ786227;NR_003022 Hs.658450;Hs.721005 ACA59 snorna 32658 PROVISIONAL 1605446 SNORA43 small nucleolar RNA, H/ACA box 43 9 9 9 q34.3 110133679 110133812 - 138739507 138742457 - 139620556 139620689 - 6480464 16381836;15199136;14702039;19446021 677824 ABBA01022719;AJ609446;AK054908;AL355987;AMYH01021870;BC105975;NR_002975 Hs.495480 1748479;1787132;5015961;5037552;5109281 D15S1477;D1S1425;D8S2279;SHGC-155365;SHGC-32749 ACA43 snorna ENSG00000199437 32636 PROVISIONAL 1602780 SNORA5A small nucleolar RNA, H/ACA box 5A 7 7 7 p13 45242791 45242924 - 45110473 45110606 - 45143948 45144081 - 6480464 16381836;15199136;19446021 654319 AACC02000110;ABBA01058248;AC013416;AJ609453;AMYH01017221;CH236960;NR_002919 Hs.689711 ACA5;ACA5A/B/C snorna 32588 PROVISIONAL 1602754 SNORA5C small nucleolar RNA, H/ACA box 5C Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 7 7 7 p13 45243348 45243484 - 45111030 45111166 - 45144505 45144641 - 6480464 16381836;16361266;15199136;19446021 677796 AACC02000110;ABBA01058248;AC013416;AM055746;AMYH01017221;CH236960;NR_002991 Hs.692718 ACA5c APPROVED snorna 32590 611335 PROVISIONAL 1602755 SNORA5B small nucleolar RNA, H/ACA box 5B 7 7 7 p13 45244410 45244541 - 45112092 45112223 - 45145567 45145698 - 16381836;15199136;19446021 677795 AACC02000110;ABBA01058248;AC013416;AMYH01017221;CH236960;NR_002990 Hs.693124 ACA5b snorna 32589 PROVISIONAL 1602253 SNORA6 small nucleolar RNA, H/ACA box 6 3 3 3 p22.2 39391466 39391614 + 39424886 39425034 + 39449882 39450030 + 6480464 16381836;15199136;19446021 574040 ABBA01024804;AC099332;AF375472;AJ609429;AMYH01013099;NG_033234;NR_002325 Hs.745521 ACA6 snorna 32591 VALIDATED 1602559 SNORA61 small nucleolar RNA, H/ACA box 61 1 1 1 p35.3 27302042 27302171 - 28778863 28778992 - 28906276 28906405 - 6480464 16381836;15199136;19446021 677838 ABBA01035043;AJ609451;AL513497;AMYH01000433;NR_002987 Hs.744744 1779132;2128422 RH77841;SHGC-74498 ACA61 snorna ENSG00000207311 32655 PROVISIONAL 1350000 SNORA62 small nucleolar RNA, H/ACA box 62 3 3 3 p22.1 39394155 39394308 + 39427549 39427702 + 39452545 39452698 + 6480464 16381836;8421699;8415643;19446021 6044 ABBA01024804;AC099332;AMYH01013099;L07383;NG_033234;NR_002324;U36484;U43901 Hs.449909 E2;E2-1;RNE2;RNU108 snorna 10107 180646 VALIDATED 1348131 SNORA63 small nucleolar RNA, H/ACA box 63 3 3 3 q27 184941250 184941384 + 187987782 187987916 + 186505088 186505222 + 6480464 9182768;9144174;9047361;8421699;8415643;8391637;19446021;22268729 6043 ABBA01058381;AC112907;AMYH01013736;L07384;L22740;NR_002586 Hs.518475 E3;E3-2;RNE3;RNU107 snorna 10106 180647 PROVISIONAL 1345878 SNORA65 small nucleolar RNA, H/ACA box 65 9 9 9 q34 100861656 100861791 - 129250602 129250737 - 130210781 130210916 - 6480464 16381836;15199136;9106664;19446021 26783 ABBA01043833;AL445222;AMYH01021726;NG_032008;NR_002449;Y11159 Hs.408054 RNU65;U65 snorna 10222 VALIDATED 1343246 SNORA66 small nucleolar RNA, H/ACA box 66 This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009] 1 1 1 p22.1 91559868 91560000 + 93078864 93078996 + 93306276 93306408 + 16381836;15199136;19446021 26782 ABBA01045531;AL162740;AMYH01000800;NG_011779;NG_033051;NR_002444;Y11160 Hs.180946 1853666;1857859 Cda18a05;RH66440 RNU66;U66 APPROVED snorna 10223 REVIEWED 1347171 SNORA68 small nucleolar RNA, H/ACA box 68 19 19 19 p13 17875111 17875243 + 17834397 17834529 + 17973397 17973529 + 6480464 9182768;9106664;19446021 26780 ABBA01051233;AC005796;AMYH01009578;NR_000012;Y11162 Hs.684118 2135038 RP_L18A RNU68;U68 snorna 10225 PROVISIONAL 1344266 SNORA69 small nucleolar RNA, H/ACA box 69 This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3' end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009] X X X q24 119375935 119376066 - 118805344 118805475 - 118921316 118921447 - 6480464 16381836;15199136;9182768;9106664;3342024;19446021 26779 AB061835;ABBA01036625;AC005052;AMYH01022886;NG_016250;NR_002584;Y11163 Hs.675255 RNU69;U69;U69A APPROVED snorna 10226 VALIDATED 1342682 SNORA70 small nucleolar RNA, H/ACA box 70 X X X q28 153789678 153789812 + 153281816 153281950 + 153628622 153628756 + 6480464 15199136;9106664;8733135;19446021 26778 ABBA01045288;AC245140;AMYH01023315;BX936347;L44140;M81806;NG_012884;NG_012890;NR_000011;Y11164 Hs.744703 1665315;1677608;1802240;1803060;2036814;2036816;2036818;2036820;2036822;2036824;2036826;2036828;2036830;2036832;2036834;2102504 ECD02003;ECD02421;REN89417;REN89418;REN89419;REN89420;REN89421;REN89422;REN89423;REN89424;REN89425;REN89426;REN89427;RH45180;RP_L10;stSG604020 DXS648E;RNU70;U70 snorna 10231 VALIDATED 1642100 SNORA70B small nucleolar RNA, H/ACA box 70B 2 2 2 p15 61488819 61488952 - 61497883 61498016 - 61644379 61644512 - 16990247;19446021 100124537 ABBA01075353;AC016894;AMYH01010380;NR_003707 Hs.675825 1673932;1823746 ECD12965;RH68443 APPROVED snorna 33618 VALIDATED 1352748 SNORA67 small nucleolar RNA, H/ACA box 67 17 17 17 p13.1 7507596 7507732 + 7421997 7422133 + 7481273 7481409 + 16381836;15199136;9182768;9106664;21145461;19446021;22118674;21628590 26781 ABBA01054873;AC016876;AMYH01008085;NR_002912;Y11161 Hs.744704 RNU67;U67 snorna 10224 PROVISIONAL 1642099 SNORA70C small nucleolar RNA, H/ACA box 70C This gene produces a small nucleolar RNA (snoRNA) that plays a role in post-transcriptional modification. This snoRNA is a type-3 retrotransposed snoRNA, where the ribosomal protein L10 gene on chromosome X is its parental gene, and this, together with part of the parental gene, was subsequently mobilized into an intron of the astrotactin 2 host gene on chromosome 9. This snoRNA contains a H/ACA box, which serves as a guide for the pseudouridylation of selected bases of ribosomal RNA by forming short duplexes with the 18S rRNA U1692, the target for this snoRNA. This gene is specific to human, chimp and orangutan, and is not found in the genomes of rhesus or marmoset. [provided by RefSeq, Jun 2010] 9 9 9 q33.1 90591066 90591201 - 118983166 118983299 - 119943345 119943480 - 16990247;17154719;17175533;19446021 100124538 ABBA01016278;AL355608;AMYH01021681;NG_021409;NR_003708 Hs.693445 U70C APPROVED snorna 33619 REVIEWED 2974666 SNORA70D small nucleolar RNA, H/ACA box 70D 16 16 q22.3 56048528 56048662 - 71732470 71732604 - 19446021 100379141 ABBA01016781;AC009097;AMYH01007789;NR_033337 Hs.725116 U70D APPROVED snorna 34356 PROVISIONAL 1342964 SNORA64 small nucleolar RNA, H/ACA box 64 16 16 16 p13.3 2225156 2225289 - 1952975 1953108 - 2012974 2013107 - 6480464 16381836;15199136;9106664;19446021 26784 ABBA01030285;AC005363;AMYH01007046;NR_002326;Y11158 Hs.498569 1712348 G54162 RNU64;U64 snorna 10221 PROVISIONAL 2974667 SNORA70G small nucleolar RNA, H/ACA box 70G 12 12 q14 68684753 68684894 - 69021014 69021155 - 19446021 100379132 ABBA01026555;AC015550;AMYH01004561;NR_033335 Hs.724530 U70G APPROVED snorna ENSG00000206650 34359 PROVISIONAL 1351285 SNORA71A small nucleolar RNA, H/ACA box 71A 20 20 20 q11.23 33764753 33764890 - 36489363 36489500 - 37055949 37056086 - 15199136;9106664;19446021 26777 ABBA01052525;AL080249;AMYH01011905;NR_002911;Y11165 Hs.681779 1338575 D20S881 RNU71A;U71a snorna ENSG00000201599;ENSG00000225091 10232 PROVISIONAL 1349458 SNORA71B small nucleolar RNA, H/ACA box 71B 20 20 20 q11.23 33762642 33762777 - 36487257 36487392 - 37053843 37053978 - 6480464 15199136;9106664;19446021 26776 ABBA01052525;AL080249;AMYH01011905;NR_002910;Y11166 Hs.743872 1338575 D20S881 RNU71B;U71b rna, u71b small nucleolar snorna ENSG00000201416;ENSG00000235408 10233 PROVISIONAL 1602558 SNORA71C small nucleolar RNA, H/ACA box 71C 20 20 20 q11.23 33767114 33767251 - 36491724 36491861 - 37058310 37058447 - 16381836;15199136;19446021 677839 ABBA01052525;AL080249;AMYH01011905;NR_003017 Hs.711516 U71c snorna ENSG00000201512 32656 PROVISIONAL 1602557 SNORA71D small nucleolar RNA, H/ACA box 71D 20 20 20 q11.23 33771309 33771446 - 36495919 36496056 - 37062505 37062642 - 16381836;15199136;19446021 677840 ABBA01052525;AL080249;AMYH01011905;NR_003018 Hs.653086 U71d snorna ENSG00000200354 32657 PROVISIONAL 1349239 SNORA72 small nucleolar RNA, H/ACA box 72 8 8 8 q22 95240231 95240362 - 99123490 99123621 - 99054314 99054445 - 9182768;9106664;9047361;19446021 26775 AB070559;ABBA01037529;AMYH01018915;AP003352;NR_002581;Y11167 Hs.684855 RNU72;U72 snorna 10234 PROVISIONAL 2881126 SNORA70F small nucleolar RNA, H/ACA box 70F 2 2 159154798 159154932 - 165544153 165544287 - 19446021 100337591 ABBA01004911;AC019181;AMYH01011224;NR_033309 Hs.743769 U70F APPROVED snorna 34358 PROVISIONAL 1354060 SNORA73A small nucleolar RNA, H/ACA box 73A 1 1 1 p36.1 27229654 27229860 + 28706464 28706670 + 28833877 28834083 + 8421699;8391637;8335005;19446021 6080 ABBA01035034;AL513497;AMYH01000431;CX783521;L07382;L16791;NR_002907;S63405 1767391;5126835 PMC14794P2;SHGC-74505 E1;E1-7;E1b;RNE1;RNU17A;U17A snorna ENSG00000201808 10115 180645 VALIDATED 1345459 SNORA73B small nucleolar RNA, H/ACA box 73B 1 1 p36.1 27230847 27231051 + 28835070 28835274 + 8335005;19446021 6081 AL513497;L16792;NR_004406 1767391 SHGC-74505 RNU17B;U17B snorna 10116 603239 PROVISIONAL 1345962 SNORA74A small nucleolar RNA, H/ACA box 74A 5 5 5 q31.2 134736190 134736389 + 138642368 138642567 + 138614469 138614668 + 6480464 19240791;9630250;8657112;16601202;19446021 26821 ABBA01068644;AC011404;AMYH01015649;NG_012846;NR_002915;X94290 Hs.684893 1780630 bac51452T RNU19;U19 snorna ENSG00000200959 10119 VALIDATED 1602560 SNORA60 small nucleolar RNA, H/ACA box 60 20 20 20 q11.23 33786818 33786953 + 36511426 36511561 + 37078012 37078147 + 6480464 16381836;15199136;14702039;19446021 677837 ABBA01052525;AJ609469;AK091209;AL049868;AMYH01011905;NR_002986 Hs.16936;Hs.706159 1693428;2149506 AL034527;WI-14331 ACA60 snorna ENSG00000199266 32654 PROVISIONAL 2946884 SNORA70E small nucleolar RNA, H/ACA box 70E 11 11 80062270 80062404 - 82752506 82752640 - 19446021 100379250 ABBA01017368;AMYH01003839;AP001767;NR_033347 Hs.725115 U70E APPROVED snorna ENSG00000207221 34357 PROVISIONAL 1602556 SNORA74B small nucleolar RNA, H/ACA box 74B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 5 5 5 q35.1 168481196 168481399 + 172380335 172380538 + 172447729 172447932 + 16381836;16361266;15199136;19446021 677841 ABBA01044033;AC008429;AM055743;AMYH01015820;NR_002988 Hs.692720 U19-2 APPROVED snorna ENSG00000212402 32660 611331 PROVISIONAL 1602554 SNORA77 small nucleolar RNA, H/ACA box 77 1 1 1 q32.1 176829054 176829178 + 201965332 201965456 + 203698709 203698833 + 16381836;15199136;19446021 677843 ABBA01027472;AC114402;AMYH01001657;NG_029589;NR_003019 Hs.676135 ACA63 snorna 32663 VALIDATED 1602778 SNORA75 small nucleolar RNA, H/ACA box 75 2 2 2 q37.1 226096864 226097000 - 232028755 232028891 - 232320511 232320647 - 6480464 16381836;15199136;9182768;19446021 654321 ABBA01002057;AC017104;AJ007015;AMYH01011558;NR_002921 Hs.674388 1679593;1713497;5017595 NCL;RH120232;RH65048 U23 snorna 32661 PROVISIONAL 1602555 SNORA76 small nucleolar RNA, H/ACA box 76 17 17 17 q23.3 56611769 56611901 + 59577431 59577563 + 62223699 62223831 + 6480464 16381836;15199136;19446021 677842 ABBA01035308;AC025362;AMYH01008553;NR_002995 Hs.405444 ACA62 snorna ENSG00000221462 32662 PROVISIONAL 1602553 SNORA78 small nucleolar RNA, H/ACA box 78 16 16 16 p13.3 2227367 2227493 + 1955186 1955312 + 2015185 2015311 + 16381836;15199136;19446021 677844 ABBA01030285;AC005363;AC005606;AMYH01007046;BC028232;NR_003020 Hs.707294 1712348 G54162 ACA64 snorna ENSG00000238671 32664 VALIDATED 1602552 SNORA79 small nucleolar RNA, H/ACA box 79 14 14 14 q31.1 61708936 61709075 - 80738792 80738931 - 81669039 81669178 - 16381836;15199136;19446021 677845 ABBA01030612;AC010582;AL136040;AMYH01005902;NR_003021 Hs.693251 ACA65 snorna 32665 VALIDATED 1602753 SNORA7B small nucleolar RNA, H/ACA box 7B 3 3 3 q21.3 127542893 127543031 - 130598743 130598881 - 129116053 129116191 - 6480464 16381836;15199136;19446021 677797 ABBA01059231;AL449212;AMYH01013476;NR_002992 Hs.711399 2185311;2191469 D3S4252;MARC_23652-23653:1029502677:1 ACA7B snorna ENSG00000207088 32593 PROVISIONAL 1602779 SNORA8 small nucleolar RNA, H/ACA box 8 11 11 11 q21 90756979 90757117 - 93105175 93105313 - 93465527 93465665 - 6480464 16381836;15199136;3342024;19446021 654320 ABBA01040043;AJ609454;AMYH01003959;AP001273;NR_002920 Hs.741060 2147584 D11S4684 ACA8 snorna ENSG00000207304 32596 PROVISIONAL 2312689 SNORA80B small nucleolar RNA, H/ACA box 80B 2 2 p25.1 10502619 10502754 - 10586840 10586975 - 19446021 100302743 ABBA01015615;AC007249;AMYH01010103;NR_028374 Hs.730525 1793308 PMC207647P3 ACA67B snorna ENSG00000206633 34355 PROVISIONAL 1602551 SNORA80 small nucleolar RNA, H/ACA box 80 21 21 21 q22.11 18933122 18933257 - 32671367 32671502 - 33749496 33749631 - 16381836;15199136;19446021 677846 ABBA01057313;AMYH01012199;AP000268;NR_002996 Hs.712293 1806692;1808654;1833994;2019574;2019576;2019578;2019580;2019582;2019584;2019586;2019588;2019590;2019592;2019594;2019596;2019598;2019600;2019602;2019604;2019606;2099744;2099746;2099748 ECD04303;ECD05309;ECD18144;REN80735;REN80736;REN80737;REN80738;REN80739;REN80740;REN80741;REN80742;REN80743;REN80744;REN80745;REN80746;REN80747;REN80748;REN80749;REN80750;REN80751;stSG606347;stSG606348;stSG606349 ACA67 snorna 32666 PROVISIONAL 1602550 SNORA81 small nucleolar RNA, H/ACA box 81 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008] 3 3 3 q27.3 184940626 184940803 + 187987158 187987335 + 186504464 186504641 + 6480464 16381836;16361266;15199136;19446021 677847 ABBA01058381;AC112907;AM055745;AMYH01013736;NR_002989 Hs.688848 HBI-61 APPROVED snorna 32667 611334 PROVISIONAL 1642103 SNORA84 small nucleolar RNA, H/ACA box 84 9 9 9 q22.31 65491052 65491184 - 94094564 94094696 - 95054743 95054875 - 16990247;19446021 100124534 ABBA01018584;AL136097;AMYH01021508;NR_003704 Hs.693449 snorna ENSG00000239183 33615 VALIDATED 1602244 SNORA7A small nucleolar RNA, H/ACA box 7A 3 3 p25 12820102 12820240 - 12881811 12881949 - 6480464 16381836;15199136;9047361;21145461;19446021;21628590 619563 ABBA01025188;AC034198;AJ609430;AMYH01012988;NR_002582 Hs.265174 ACA7 snorna ENSG00000207496 32592 PROVISIONAL 1602940 SNORD10 small nucleolar RNA, C/D box 10 17 17 17 p13.1 7506452 7506599 + 7420853 7421000 + 7480129 7480276 + 9844635;19446021 652966 ABBA01054873;AC016876;AMYH01008085;NR_002604 Hs.742526 1767709;2135284 A004D02;A005T43 mgU6-77 snorna 32706 PROVISIONAL 1602752 SNORA9 small nucleolar RNA, H/ACA box 9 7 7 7 p13 45123743 45123875 - 44991502 44991634 - 45024977 45025109 - 16381836;15199136;19446021 677798 AACC02000110;ABBA01058244;AC004847;AJ609431;AMYH01017219;CH236960;NR_002952 Hs.744745 ACA9 snorna ENSG00000206942 32597 PROVISIONAL 1602251 SNORD101 small nucleolar RNA, C/D box 101 6 6 6 q23.2 133883273 133883345 + 133178139 133178211 + 133136446 133136518 + 14602913;19446021 594837 ABBA01025876;AL137783;AMYH01016676;AY349602;NR_002434 U101 snorna 32764 PROVISIONAL 1602329 SNORD102 small nucleolar RNA, C/D box 102 13 13 13 q12.2 8898074 8898145 + 26727201 26727272 + 27829201 27829272 + 14602913;19446021 26771 AB061826;ABBA01035750;AL159977;AMYH01004987;AY349603;NR_002574 RNU102;Z18 snorna 10099 PROVISIONAL 1602349 SNORD103A small nucleolar RNA, C/D box 103A 1 1 p35.2 29664456 29664543 - 31408536 31408623 - 14602913;19446021 692234 ABBA01023492;AL445235;AMYH01000452;AY349604;NR_004054 U103 snorna 32766 VALIDATED 1602250 SNORD100 small nucleolar RNA, C/D box 100 6 6 6 q23.2 133884768 133884843 + 133179634 133179709 + 133137941 133138016 + 11387227;19446021 594838 AB061840;ABBA01025876;AL137783;AMYH01016676;NR_002435 HBII-429 snorna 32763 PROVISIONAL 2947026 SNORD103B small nucleolar RNA, C/D box 103B 1 1 p35.2 29677881 29677968 - 31421965 31422052 - 14602913;19446021 692235 ABBA01023490;AL445235;AMYH01000452;NR_033295 U103B snorna 32767 VALIDATED 1602352 SNORD104 small nucleolar RNA, C/D box 104 17 17 q23.3 56611508 56611587 + 62223438 62223517 + 6480464 14602913;19446021 692227 ABBA01035308;AC025362;AMYH01008553;AY349605;NR_004380 U104 snorna ENSG00000199753 32768 PROVISIONAL 1626531 SNORD105B small nucleolar RNA, C/D box 105B 19 19 19 p13.2 10115916 10116007 + 10220425 10220516 + 10220425 10220516 + 16990247;19446021 100113382 ABBA01029947;AC020931;AMYH01009467;NR_003688 snorna 33572 PROVISIONAL 1602351 SNORD105 small nucleolar RNA, C/D box 105 19 19 p13.2 10113818 10113902 + 10218327 10218411 + 14602913;19446021 692229 ABBA01029947;AC020931;AMYH01009467;AY349606;NR_004381 U105 snorna 32769 PROVISIONAL 1606194 SNORD107 small nucleolar RNA, C/D box 107 Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011] 15 15 15 q11.2 3389136 3389210 + 22778234 22778308 + 25227141 25227215 + 11726556;19446021 91380 ABBA01048688;AC124312;AMYH01006484;AY055806;NG_002690;NR_001293 HBII-436 APPROVED snorna ENSG00000238810 32771 REVIEWED 1605817 SNORD108 small nucleolar RNA, C/D box 108 15 15 15 q11.2 3394065 3394133 + 22783165 22783233 + 25232072 25232140 + 11726556;19446021 338427 ABBA01048688;AC124312;AMYH01006484;AY055807;NG_002690;NR_001292 HBII-437 snorna ENSG00000239014 32772 VALIDATED 1605815 SNORD109B small nucleolar RNA, C/D box 109B This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010] 15 15 15 q11.2 3685513 3685579 + 23074583 23074649 + 25523490 25523556 + 11726556;19446021 338429 ABBA01048691;AC100774;AMYH01006484;NG_002690;NR_001289 HBII-438B APPROVED snorna ENSG00000239169 32774 REVIEWED 1605816 SNORD109A small nucleolar RNA, C/D box 109A This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010] 15 15 15 q11.2 3449108 3449174 + 22838214 22838280 + 25287121 25287187 + 11726556;19446021 338428 ABBA01048688;AC124312;AMYH01006484;AY055808;NG_002690;NR_001295 HBII-438A APPROVED snorna ENSG00000238678 32773 REVIEWED 1602359 SNORD110 small nucleolar RNA, C/D box 110 20 20 20 p13 2699321 2699395 + 2582858 2582932 + 2634858 2634932 + 11387227;19446021 692213 ABBA01053795;AL049712;AMYH01011668;NG_032136;NR_003078 HBII-55 snorna 32775 VALIDATED 1602748 SNORD11 small nucleolar RNA, C/D box 11 2 2 2 q33.1 196909678 196909761 + 202866019 202866102 + 203157774 203157857 + 11387227;19446021 692058 ABBA01062559;AC064836;AMYH01011407;NR_003031 HBII-95 snorna 32707 PROVISIONAL 1602358 SNORD111 small nucleolar RNA, C/D box 111 16 16 16 q22.1 54956138 54956231 - 69129409 69129502 + 70571908 70572001 + 11387227;19446021 692214 ABBA01010656;AC106804;AMYH01007784;NR_003079 HBII-82 snorna 32776 PROVISIONAL 1602357 SNORD112 small nucleolar RNA, C/D box 112 Small nucleolar RNAs (snoRNAs), like SNORD112, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010] 14 14 14 q32.31 81418079 81418155 + 100434010 100434086 + 101364257 101364333 + 12045206;19446021 692215 ABBA01048515;AL117190;AMYH01006016;NR_003080 1768378 RH44958 14q(0) APPROVED snorna ENSG00000238527 32777 613649 PROVISIONAL 1602532 SNORD113-1 small nucleolar RNA, C/D box 113-1 Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010] 14 14 14 q32.31 81444989 81445058 + 100460911 100460980 + 101391158 101391227 + 12045206;19446021 767561 ABBA01048514;AL117190;AMYH01006016;NR_003229 14q(I-1) APPROVED snorna ENSG00000202191 32980 613650 PROVISIONAL 1602531 SNORD113-2 small nucleolar RNA, C/D box 113-2 14 14 14 q32.31 81447510 81447580 + 100463432 100463502 + 101393679 101393749 + 12045206;19446021 767562 ABBA01048514;AL132709;AMYH01006016;NR_003230 14q(I-2) snorna ENSG00000212384 32981 PROVISIONAL 1605941 SNIP1 Smad nuclear interacting protein 1 This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012] 1 1 1 p34.3 36280132 36297891 - 37774729 37792490 - 38000050 38019945 - 6480464 17157259;17081983;16189514;15750622;15489334;15378006;15231748;14702039;12477932;12097147;11567019;10887155;18632581;18794151;17207965;17260016;21167768;18029348;19471022;15342556;21693764;22020748;22279524;22094256;22365833;23000965 79753 B1AK66;Q8TAD8 ABBA01023274;ABBA01023275;AK022615;AK027622;AK293229;AK297176;AK300796;AK315574;AL034379;AMYH01000501;AY081909;BC027040;BP364813;CH471059;CX759814;NG_032170;NM_024700 AAH27040;AAL91140;ADQ31741;BAB14134;BAB55241;BAG37948;BAG56768;BAG59668;BAG62455;EAX07338;NP_078976;Q8TAD8 Hs.47232 1692328;2147274;2154647;2156929;5015961;5022578;5037552 AL009981;AL033821;D15S1477;D1S1423;D8S2279;SHGC-74619;SHGC-74624 FLJ12553;PMRED;RP3-423B22.3;dJ423B22.2 FHA domain-containing protein SNIP1;OTTHUMP00000004404;Smad nuclear interacting protein (SNIP1);smad nuclear-interacting protein 1 APPROVED protein-coding 30587 06999 608241;614501 REVIEWED 1602526 SNORD113-7 small nucleolar RNA, C/D box 113-7 14 14 14 q32.31 81461297 81461372 + 100477216 100477291 + 101407463 101407538 + 12045206;19446021 767567 ABBA01048514;AL132709;AMYH01006016;NR_003235 14q(I-7) snorna ENSG00000200632 32986 PROVISIONAL 1626520 SNORD111B small nucleolar RNA, C/D box 111B 16 16 16 q22.1 54964649 54964742 - 69120906 69120999 + 70563402 70563502 + 16990247;16381832;20483914;19446021 100113402 ABBA01010657;AC106804;AMYH01007784;NR_037420 MIR3647 APPROVED snorna 33579 PROVISIONAL 1602530 SNORD113-3 small nucleolar RNA, C/D box 113-3 14 14 14 q32.31 81450087 81450157 + 100466009 100466079 + 101396256 101396326 + 12045206;19446021 767563 ABBA01048514;AL132709;AMYH01006016;NR_003231 14q(I-3) snorna ENSG00000201700 32982 PROVISIONAL 1602528 SNORD113-5 small nucleolar RNA, C/D box 113-5 14 14 14 q32.31 81458358 81458434 + 100474277 100474353 + 101404524 101404600 + 12045206;19446021 767565 ABBA01048514;AL132709;AMYH01006016;NR_003233 14q(I-5) snorna 32984 PROVISIONAL 1602529 SNORD113-4 small nucleolar RNA, C/D box 113-4 14 14 14 q32.31 81456661 81456734 + 100472581 100472654 + 101402828 101402901 + 12045206;19446021 767564 ABBA01048514;AL132709;AMYH01006016;NR_003232 14q(I-4) snorna ENSG00000201672 32983 PROVISIONAL 1602527 SNORD113-6 small nucleolar RNA, C/D box 113-6 14 14 14 q32.31 81459727 81459800 + 100475646 100475719 + 101405893 101405966 + 12045206;19446021 767566 ABBA01048514;AL132709;AMYH01006016;NR_003234 14q(I-6) snorna ENSG00000200215 32985 PROVISIONAL 1602523 SNORD114-1 small nucleolar RNA, C/D box 114-1 Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010] 14 14 14 q32 81470004 81470074 + 100485923 100485993 + 101416170 101416240 + 12045206;19446021 767577 ABBA01048514;AL132709;AMYH01006016;NR_003193 14q(II-1) APPROVED snorna ENSG00000199575 32989 613651 PROVISIONAL 1602524 SNORD113-9 small nucleolar RNA, C/D box 113-9 14 14 14 q32.31 81465820 81465890 + 100481739 100481809 + 101411986 101412056 + 12045206;19446021 767569 ABBA01048514;AL132709;AMYH01006016;NR_003237 14q(I-9) snorna ENSG00000201950 32988 PROVISIONAL 1602514 SNORD114-10 small nucleolar RNA, C/D box 114-10 14 14 14 q32 81489388 81489458 + 100503142 100503212 + 101433389 101433459 + 12045206;19446021 767588 ABBA01048514;AL132709;AMYH01006016;NR_003203 1652470;2126608 RH45990;SHGC-53623 14q(II-10) snorna ENSG00000200279 32998 PROVISIONAL 1602512 SNORD114-12 small nucleolar RNA, C/D box 114-12 14 14 14 q32 81491284 81491357 + 100505038 100505111 + 101435285 101435358 + 12045206;19446021 767590 ABBA01048514;AL132709;AMYH01006016;NR_003205 14q(II-12) snorna ENSG00000202270 33000 PROVISIONAL 1602513 SNORD114-11 small nucleolar RNA, C/D box 114-11 14 14 14 q32 81490447 81490520 + 100504201 100504274 + 101434448 101434521 + 12045206;19446021 767589 ABBA01048514;AL132709;AMYH01006016;NR_003204 1652470;2126608 RH45990;SHGC-53623 14q(II-11) snorna ENSG00000200608 32999 PROVISIONAL 1602507 SNORD114-17 small nucleolar RNA, C/D box 114-17 14 14 14 q32 81497143 81497216 + 100510896 100510969 + 101441143 101441216 + 12045206;19446021 767595 ABBA01048514;AL132709;AMYH01006016;NR_003210 14q(II-17) snorna ENSG00000201569 33005 PROVISIONAL 1602509 SNORD114-15 small nucleolar RNA, C/D box 114-15 14 14 14 q32 81495007 81495077 + 100508760 100508830 + 101439007 101439077 + 12045206;19446021 767593 ABBA01048514;AL132709;AMYH01006016;NR_003208 14q(II-15) snorna ENSG00000201557 33003 PROVISIONAL 1602510 SNORD114-14 small nucleolar RNA, C/D box 114-14 14 14 14 q32 81494440 81494513 + 100508193 100508266 + 101438440 101438513 + 12045206;19446021 767592 ABBA01048514;AL132709;AMYH01006016;NR_003207 14q(II-14) snorna ENSG00000199593 33002 PROVISIONAL 1602525 SNORD113-8 small nucleolar RNA, C/D box 113-8 14 14 q32.31 100479541 100479613 + 101409788 101409860 + 12045206;19446021 767568 ABBA01048514;AL132709;AMYH01006016;NR_003236 14q(I-8) snorna ENSG00000200367 32987 PROVISIONAL 1602511 SNORD114-13 small nucleolar RNA, C/D box 114-13 14 14 14 q32 81492215 81492287 + 100505969 100506041 + 101436216 101436288 + 12045206;19446021 767591 ABBA01048514;AL132709;AMYH01006016;NR_003206 14q(II-13) snorna ENSG00000201247 33001 PROVISIONAL 1602506 SNORD114-18 small nucleolar RNA, C/D box 114-18 14 14 14 q32 81498162 81498232 + 100511915 100511985 + 101442162 101442232 + 12045206;19446021 767596 ABBA01048514;AL132709;AMYH01006016;NR_003211 14q(II-18) snorna ENSG00000202142 33006 PROVISIONAL 736222 SNN stannin 16 16 16 p13 11936631 11947357 + 11669802 11680507 + 11762289 11773015 + 1580863;6480464 9657854;16381901;15489336;15489334;15345747;12477932;11230166;11076863;10233894;9413842;1635553;19305408 8303 O75324 ABBA01006829;ABBA01006830;AC007613;AF030196;AF070673;AK025795;AL161976;AL538273;AMYH01007156;AY325800;BC005837;BC036100;BC036443;BQ019000;CH471112;CR542127;CR542138;CR984360;NM_003498 AAC28427;AAC83231;AAH36100;AAH36443;AAP78484;ABM81710;ABM84866;CAB82314;CAG46924;CAG46935;CAL37610;EAW85146;EAW85147;NP_003489;O75324 Hs.618526 1683455;1703250;1737549;1772977;2173599 D16S2658;D16S2934E;RH93664;SGC32077;SHGC-24019 AG8_1;OTTHUMP00000115637;stannin protein-coding ENSG00000184602 11149 04327 603032 VALIDATED 1602508 SNORD114-16 small nucleolar RNA, C/D box 114-16 14 14 14 q32 81495932 81496000 + 100509685 100509753 + 101439932 101440000 + 12045206;19446021 767594 ABBA01048514;AL132709;AMYH01006016;NR_003209 14q(II-16) snorna ENSG00000199914 33004 PROVISIONAL 1602505 SNORD114-19 small nucleolar RNA, C/D box 114-19 14 14 14 q32 81498814 81498887 + 100512567 100512640 + 101442814 101442887 + 12045206;19446021 767597 ABBA01048514;AL132709;AMYH01006016;NR_003212 14q(II-19) snorna ENSG00000199942 33007 PROVISIONAL 1602503 SNORD114-21 small nucleolar RNA, C/D box 114-21 14 14 14 q32 81504312 81504382 + 100518065 100518135 + 101448312 101448382 + 12045206;19446021 767599 ABBA01048514;AL132709;AMYH01006016;NR_003214 14q(II-21) snorna 33009 PROVISIONAL 1602347 SNORD114-23 small nucleolar RNA, C/D box 114-23 14 14 14 q32 81506213 81506283 + 100519966 100520036 + 101450213 101450283 + 12045206;19446021 767603 ABBA01048514;AL132709;AMYH01006016;NR_003216 14q(II-23) snorna ENSG00000200406 33011 PROVISIONAL 1602504 SNORD114-20 small nucleolar RNA, C/D box 114-20 14 14 14 q32 81503341 81503411 + 100517094 100517164 + 101447341 101447411 + 12045206;19446021 767598 ABBA01048514;AL132709;AMYH01006016;NR_003213 14q(II-20) snorna ENSG00000202048 33008 PROVISIONAL 1602522 SNORD114-2 small nucleolar RNA, C/D box 114-2 14 14 14 q32 81472027 81472102 + 100487946 100488022 + 101418193 101418269 + 12045206;19446021 767578 ABBA01048514;AL132709;AMYH01006016;NR_003194 1689975 RH80736 14q(II-2) snorna ENSG00000200823 32990 PROVISIONAL 1602348 SNORD114-22 small nucleolar RNA, C/D box 114-22 14 14 14 q32 81505263 81505333 + 100519016 100519086 + 101449263 101449333 + 12045206;19446021 767600 ABBA01048514;AL132709;AMYH01006016;NR_003215 14q(II-22) snorna ENSG00000202293 33010 PROVISIONAL 1602346 SNORD114-24 small nucleolar RNA, C/D box 114-24 14 14 14 q32 81507113 81507183 + 100520867 100520937 + 101451114 101451184 + 12045206;19446021 767604 ABBA01048514;AL132709;AMYH01006016;NR_003217 14q(II-24) snorna ENSG00000201899 33012 PROVISIONAL 1602345 SNORD114-25 small nucleolar RNA, C/D box 114-25 14 14 14 q32 81508393 81508463 + 100522147 100522217 + 101452394 101452464 + 12045206;19446021 767605 ABBA01048514;AL132709;AMYH01006016;NR_003218 14q(II-25) snorna ENSG00000200612 33013 PROVISIONAL 1602344 SNORD114-26 small nucleolar RNA, C/D box 114-26 14 14 14 q32 81509382 81509452 + 100523136 100523206 + 101453383 101453453 + 12045206;19446021 767606 ABBA01048514;AL132709;AMYH01006016;NR_003219 14q(II-26) snorna ENSG00000200413 33014 PROVISIONAL 1602343 SNORD114-27 small nucleolar RNA, C/D box 114-27 14 14 14 q32 81510497 81510565 + 100524251 100524319 + 101454498 101454566 + 12045206;19446021 767608 ABBA01048514;AL132709;AMYH01006016;NR_003220 14q(II-27) snorna ENSG00000200636 33015 PROVISIONAL 1602342 SNORD114-28 small nucleolar RNA, C/D box 114-28 14 14 14 q32 81511466 81511536 + 100525220 100525290 + 101455467 101455537 + 12045206;19446021 767609 ABBA01048514;AL132709;AMYH01006016;NR_003221 14q(II-28) snorna ENSG00000200480 33016 PROVISIONAL 1602520 SNORD114-4 small nucleolar RNA, C/D box 114-4 14 14 14 q32 81474511 81474614 + 100490434 100490537 + 101420681 101420784 + 12045206;19446021 767580 ABBA01048514;AL132709;AMYH01006016;NR_003196 Hs.651071 1696942;2167504 D1S3497;RH101943 14q(II-4) snorna 32992 PROVISIONAL 1602519 SNORD114-5 small nucleolar RNA, C/D box 114-5 14 14 14 q32 81475537 81475605 + 100491460 100491528 + 101421707 101421775 + 12045206;19446021 767581 ABBA01048514;AL132709;AMYH01006016;NR_003197 14q(II-5) snorna ENSG00000199798 32993 PROVISIONAL 1602518 SNORD114-6 small nucleolar RNA, C/D box 114-6 14 14 14 q32 81477333 81477403 + 100493256 100493326 + 101423503 101423573 + 12045206;19446021 767582 ABBA01048514;AL132709;AMYH01006016;NR_003198 14q(II-6) snorna ENSG00000201263 32994 PROVISIONAL 1602517 SNORD114-7 small nucleolar RNA, C/D box 114-7 14 14 14 q32 81485387 81485462 + 100499144 100499219 + 101429391 101429466 + 12045206;19446021 767583 ABBA01048514;AL132709;AMYH01006016;NR_003199 1721173;5094206 G54611;G59423 14q(II-7) snorna ENSG00000199390 32995 PROVISIONAL 1602516 SNORD114-8 small nucleolar RNA, C/D box 114-8 14 14 14 q32 81487114 81487184 + 100500871 100500941 + 101431118 101431188 + 12045206;19446021 767584 ABBA01048514;AL132709;AMYH01006016;NR_003200 1721173;5094206 G54611;G59423 14q(II-8) snorna 32996 PROVISIONAL 1602515 SNORD114-9 small nucleolar RNA, C/D box 114-9 14 14 14 q32 81488362 81488432 + 100502119 100502189 + 101432366 101432436 + 12045206;19446021 767585 ABBA01048514;AL132709;AMYH01006016;NR_003201 14q(II-9) snorna ENSG00000201240 32997 PROVISIONAL 1605814 SNORD115-1 small nucleolar RNA, C/D box 115-1 This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008] 15 15 15 q11.2 3577882 3577963 + 22966963 22967044 + 25415870 25415951 + 18616950;16357227;15939761;15565282;12045206;11726556;11106375;19446021;20301505 338433 ABBA01048690;AC124303;AF250841;AMYH01006484;NG_002690;NR_001291 HBII-52-1;RNHBII52 APPROVED snorna ENSG00000201831 33020 609837 REVIEWED 1602339 SNORD114-31 small nucleolar RNA, C/D box 114-31 14 14 14 q32 81515572 81515645 + 100529326 100529399 + 101459573 101459646 + 12045206;19446021 767612 ABBA01048514;AL132709;AMYH01006016;NR_003224 1660155;5093760 A009W10;G32907 14q(II-31) snorna ENSG00000200089 33019 PROVISIONAL 1602341 SNORD114-29 small nucleolar RNA, C/D box 114-29 14 14 14 q32 81512427 81512495 + 100526181 100526249 + 101456428 101456496 + 12045206;19446021 767610 ABBA01048514;AL132709;AMYH01006016;NR_003222 14q(II-29) snorna ENSG00000201689 33017 PROVISIONAL 1602340 SNORD114-30 small nucleolar RNA, C/D box 114-30 14 14 14 q32 81514255 81514325 + 100528009 100528079 + 101458256 101458326 + 12045206;19446021 767611 ABBA01048514;AL132709;AMYH01006016;NR_003223 14q(II-30) snorna ENSG00000201318 33018 PROVISIONAL 1604081 SNORD115-12 small nucleolar RNA, C/D box 115-12 15 15 15 q11.2 3598575 3598656 + 22987656 22987737 + 25436563 25436644 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033449 ABBA01017984;AC124303;AF250841;AMYH01006484;NG_002690;NR_003304 HBII-52-12 snorna ENSG00000199453 33031 PROVISIONAL 1604080 SNORD115-13 small nucleolar RNA, C/D box 115-13 15 15 15 q11.2 3600480 3600561 + 22989561 22989642 + 25438468 25438549 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033450 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003305 HBII-52-13 snorna ENSG00000200228 33032 PROVISIONAL 1604082 SNORD115-11 small nucleolar RNA, C/D box 115-11 15 15 15 q11.2 3596573 3596654 + 22985654 22985735 + 25434561 25434642 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033448 ABBA01017984;AC124303;AF250841;AMYH01006484;NG_002690;NR_003303 HBII-52-11 snorna ENSG00000200486 33030 PROVISIONAL 1604083 SNORD115-10 small nucleolar RNA, C/D box 115-10 15 15 15 q11.2 3594695 3594775 + 22983776 22983856 + 25432683 25432763 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033447 ABBA01017984;AC124303;AF250841;AMYH01006484;NG_002690;NR_003302 HBII-52-10 snorna ENSG00000201943 33029 PROVISIONAL 1604078 SNORD115-15 small nucleolar RNA, C/D box 115-15 15 15 15 q11.2 3604735 3604815 + 22993816 22993896 + 25442723 25442803 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033453 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003307 HBII-52-15 snorna ENSG00000201679 33034 PROVISIONAL 1604077 SNORD115-16 small nucleolar RNA, C/D box 115-16 15 15 15 q11.2 3606607 3606688 + 22995688 22995769 + 25444595 25444676 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033454 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003308 HBII-52-16 snorna ENSG00000200757 33035 PROVISIONAL 1604079 SNORD115-14 small nucleolar RNA, C/D box 115-14 15 15 15 q11.2 3602080 3602160 + 22991161 22991241 + 25440068 25440148 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033451 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003306 HBII-52-14 snorna ENSG00000199960 33033 PROVISIONAL 1604076 SNORD115-17 small nucleolar RNA, C/D box 115-17 15 15 15 q11.2 3608482 3608563 + 22997563 22997644 + 25446470 25446551 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033455 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003309 HBII-52-17 snorna ENSG00000201482 33036 PROVISIONAL 1604075 SNORD115-18 small nucleolar RNA, C/D box 115-18 15 15 15 q11.2 3610386 3610467 + 22999467 22999548 + 25448374 25448455 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033456 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003310 HBII-52-18 snorna ENSG00000200163 33037 PROVISIONAL 1604074 SNORD115-19 small nucleolar RNA, C/D box 115-19 15 15 15 q11.2 3611516 3611597 + 23000597 23000678 + 25449504 25449585 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033458 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003311 HBII-52-19 snorna ENSG00000199968 33038 PROVISIONAL 1603413 SNORD115-21 small nucleolar RNA, C/D box 115-21 15 15 15 q11.2 3615254 3615334 + 23004323 23004403 + 25453230 25453310 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033603 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003313 HBII-52-21 snorna ENSG00000199833 33040 PROVISIONAL 1606846 SNORD115-22 small nucleolar RNA, C/D box 115-22 15 15 15 q11.2 3617089 3617170 + 23006158 23006239 + 25455065 25455146 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033799 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003314 HBII-52-22 snorna ENSG00000201326 33041 PROVISIONAL 1604073 SNORD115-20 small nucleolar RNA, C/D box 115-20 15 15 15 q11.2 3613433 3613514 + 23002502 23002583 + 25451409 25451490 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033460 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003312 HBII-52-20 snorna ENSG00000201969 33039 PROVISIONAL 1606613 SNORD115-23 small nucleolar RNA, C/D box 115-23 15 15 15 q11.2 3618967 3619048 + 23008036 23008117 + 25456943 25457024 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033800 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003315 HBII-52-23 snorna ENSG00000201331 33042 PROVISIONAL 1602521 SNORD114-3 small nucleolar RNA, C/D box 114-3 14 14 14 q32 81473519 81473592 + 100489439 100489512 + 101419686 101419759 + 14702039;12045206;19446021 767579 ABBA01048514;AK001109;AL132709;AMYH01006016;NR_003195 Hs.613596 1689975;1696942;2167504 D1S3497;RH101943;RH80736 14q(II-3) snorna ENSG00000201839 32991 PROVISIONAL 1606612 SNORD115-25 small nucleolar RNA, C/D box 115-25 15 15 15 q11.2 3622712 3622793 + 23011781 23011862 + 25460688 25460769 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033801 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003342 HBII-52-25 snorna ENSG00000199489 33044 PROVISIONAL 1606611 SNORD115-26 small nucleolar RNA, C/D box 115-26 15 15 15 q11.2 3625788 3625869 + 23014857 23014938 + 25463764 25463845 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033802 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003343 HBII-52-26 snorna ENSG00000201937 33045 PROVISIONAL 1606610 SNORD115-29 small nucleolar RNA, C/D box 115-29 15 15 15 q11.2 3630417 3630498 + 23019486 23019567 + 25468393 25468474 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033803 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003344 HBII-52-29 snorna ENSG00000199704 33048 PROVISIONAL 5483736 SNORD115-27 small nucleolar RNA, C/D box 115-27 15 15 q11.2 23016743 23016818 + 25465650 25465725 + 11106375;11726556 100036564 ABBA01048691;AC124303;AMYH01006484;NG_002690;NR_003496 HBII-52-27 snorna ENSG00000201300 33046 PROVISIONAL 4144953 SNORD115-24 small nucleolar RNA, C/D box 115-24 15 15 15 q11.2 3620830 3620900 + 23009899 23009969 + 25458806 25458876 + 11106375;11726556 100036563 ABBA01048691;AC124303;AMYH01006484;NG_002690;NR_003495 HBII-52-24 snorna ENSG00000200398 33043 PROVISIONAL 1604093 SNORD115-2 small nucleolar RNA, C/D box 115-2 15 15 15 q11.2 3579794 3579875 + 22968875 22968956 + 25417782 25417863 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033437 ABBA01048690;AC124303;AF250841;AMYH01006484;NG_002690;NR_003294 HBII-52-2 snorna ENSG00000199712 33021 PROVISIONAL 5483732 SNORD115-28 small nucleolar RNA, C/D box 115-28 15 15 q11.2 23018594 23018667 + 25467501 25467574 + 11106375;11726556 100036565 ABBA01048691;AC124303;AMYH01006484;NG_002690;NR_003497 HBII-52-28 snorna ENSG00000200801 33047 PROVISIONAL 1604090 SNORD115-3 small nucleolar RNA, C/D box 115-3 15 15 15 q11.2 3582086 3582167 + 22971167 22971248 + 25420074 25420155 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033440 ABBA01001014;ABBA01048690;AC124303;AF250841;AMYH01006484;NG_002690;NR_003295 HBII-52-3 snorna ENSG00000199970 33022 PROVISIONAL 1606609 SNORD115-30 small nucleolar RNA, C/D box 115-30 15 15 15 q11.2 3632374 3632455 + 23021443 23021524 + 25470350 25470431 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033804 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003345 HBII-52-30 snorna ENSG00000200987 33049 PROVISIONAL 1606608 SNORD115-31 small nucleolar RNA, C/D box 115-31 15 15 15 q11.2 3634280 3634361 + 23023349 23023430 + 25472256 25472337 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033805 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003346 HBII-52-31 snorna ENSG00000202188 33050 PROVISIONAL 1606607 SNORD115-32 small nucleolar RNA, C/D box 115-32 15 15 15 q11.2 3636138 3636219 + 23025207 23025288 + 25474114 25474195 + 16357227;15565282;12045206;11726556;11106375;15939761;19446021 100033806 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003347 HBII-52-32 snorna ENSG00000200949 33051 PROVISIONAL 1606606 SNORD115-33 small nucleolar RNA, C/D box 115-33 15 15 15 q11.2 3638009 3638090 + 23027078 23027159 + 25475985 25476066 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033807 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003348 HBII-52-33 snorna ENSG00000200593 33052 PROVISIONAL 1606605 SNORD115-34 small nucleolar RNA, C/D box 115-34 15 15 15 q11.2 3639558 3639639 + 23028627 23028708 + 25477534 25477615 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033808 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003349 HBII-52-34 snorna ENSG00000199311 33053 PROVISIONAL 1606604 SNORD115-35 small nucleolar RNA, C/D box 115-35 15 15 15 q11.2 3641418 3641499 + 23030487 23030568 + 25479394 25479475 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033809 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003350 HBII-52-35 snorna ENSG00000201992 33054 PROVISIONAL 1606601 SNORD115-38 small nucleolar RNA, C/D box 115-38 15 15 15 q11.2 3647009 3647090 + 23036078 23036159 + 25484985 25485066 + 15939761;16357227;15565282;12045206;11726556;11106375;19446021 100033812 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003353 HBII-52-38 snorna ENSG00000201907 33057 PROVISIONAL 1606603 SNORD115-36 small nucleolar RNA, C/D box 115-36 15 15 15 q11.2 3643256 3643337 + 23032325 23032406 + 25481232 25481313 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033810 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003351 HBII-52-36 snorna ENSG00000202499 33055 PROVISIONAL 1606602 SNORD115-37 small nucleolar RNA, C/D box 115-37 15 15 15 q11.2 3645157 3645238 + 23034226 23034307 + 25483133 25483214 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033811 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003352 HBII-52-37 snorna ENSG00000200638 33056 PROVISIONAL 1606600 SNORD115-39 small nucleolar RNA, C/D box 115-39 15 15 15 q11.2 3648917 3648998 + 23037986 23038067 + 25486893 25486974 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033813 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003354 HBII-52-39 snorna ENSG00000200564 33058 PROVISIONAL 1604089 SNORD115-4 small nucleolar RNA, C/D box 115-4 15 15 15 q11.2 3583991 3584072 + 22973072 22973153 + 25421979 25422060 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033441 ABBA01001014;AC124303;AF250841;AMYH01006484;NG_002690;NR_003296 HBII-52-4 snorna ENSG00000200680 33023 PROVISIONAL 1606599 SNORD115-40 small nucleolar RNA, C/D box 115-40 15 15 15 q11.2 3650785 3650866 + 23039854 23039935 + 25488761 25488842 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033814 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003355 HBII-52-40 snorna 33059 PROVISIONAL 1606596 SNORD115-43 small nucleolar RNA, C/D box 115-43 15 15 15 q11.2 3656369 3656450 + 23045438 23045519 + 25494345 25494426 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033817 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003358 HBII-52-43 snorna ENSG00000202373 33062 PROVISIONAL 6481499 SNORD115-46 small nucleolar RNA, C/D box 115-46 100873857 AC100774 HBII-52-46 snorna 42798 1606598 SNORD115-41 small nucleolar RNA, C/D box 115-41 15 15 15 q11.2 3652649 3652730 + 23041718 23041799 + 25490625 25490706 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033815 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003356 HBII-52-41 snorna ENSG00000200478 33060 PROVISIONAL 1606597 SNORD115-42 small nucleolar RNA, C/D box 115-42 15 15 15 q11.2 3654516 3654597 + 23043585 23043666 + 25492492 25492573 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033816 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003357 HBII-52-42 snorna ENSG00000201143 33061 PROVISIONAL 1606595 SNORD115-44 small nucleolar RNA, C/D box 115-44 15 15 15 q11.2 3658030 3658111 + 23047099 23047180 + 25496006 25496087 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033818 ABBA01048691;AC124303;AF250841;AMYH01006484;NG_002690;NR_003359 HBII-52-44 snorna ENSG00000202261 33063 PROVISIONAL 1606592 SNORD115-48 small nucleolar RNA, C/D box 115-48 15 15 15 q11.2 3676954 3677029 + 23066023 23066098 + 25514930 25515005 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033822 ABBA01048691;AC100774;AF250841;AMYH01006484;NG_002690;NR_003362 1767093;2146176 1084;D15S164E HBII-52-48 snorna ENSG00000201634 33343 PROVISIONAL 1604087 SNORD115-6 small nucleolar RNA, C/D box 115-6 15 15 15 q11.2 3587656 3587737 + 22976737 22976818 + 25425644 25425725 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033443 ABBA01001013;AC124303;AF250841;AMYH01006484;NG_002690;NR_003298 HBII-52-6 snorna ENSG00000200812 33025 PROVISIONAL 1604088 SNORD115-5 small nucleolar RNA, C/D box 115-5 15 15 15 q11.2 3585897 3585978 + 22974978 22975059 + 25423885 25423966 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033442 ABBA01001014;AC124303;AF250841;AMYH01006484;NG_002690;NR_003297 HBII-52-5 snorna ENSG00000200503 33024 PROVISIONAL 1604085 SNORD115-8 small nucleolar RNA, C/D box 115-8 15 15 15 q11.2 3591465 3591546 + 22980546 22980627 + 25429453 25429534 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033445 ABBA01001013;AC124303;AF250841;AMYH01006484;NG_002690;NR_003300 HBII-52-8 snorna ENSG00000200726 33027 PROVISIONAL 1604086 SNORD115-7 small nucleolar RNA, C/D box 115-7 15 15 15 q11.2 3589544 3589625 + 22978625 22978706 + 25427532 25427613 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033444 ABBA01001013;AC124303;AF250841;AMYH01006484;NG_002690;NR_003299 HBII-52-7 snorna ENSG00000202176 33026 PROVISIONAL 1604084 SNORD115-9 small nucleolar RNA, C/D box 115-9 15 15 15 q11.2 3592790 3592871 + 22981871 22981952 + 25430778 25430859 + 16357227;15939761;15565282;12045206;11726556;11106375;19446021 100033446 ABBA01017984;AC124303;AF250841;AMYH01006484;NG_002690;NR_003301 HBII-52-9 snorna ENSG00000199782 33028 PROVISIONAL 1604117 SNORD116-1 small nucleolar RNA, C/D box 116-1 15 15 15 q11.2 3458596 3458692 + 22847716 22847812 + 25296625 25296718 + 11726556;11106375;19446021;20301505 100033413 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003316 HBII-85-1;PWCR1 snorna ENSG00000207063 33067 605436 PROVISIONAL 1604108 SNORD116-10 small nucleolar RNA, C/D box 116-10 15 15 15 q11.2 3481231 3481334 + 22870353 22870456 + 25319260 25319363 + 11726556;11106375;19446021 100033422 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003325 HBII-85-10 snorna ENSG00000200661 33076 PROVISIONAL 1604107 SNORD116-11 small nucleolar RNA, C/D box 116-11 15 15 15 q11.2 3483046 3483139 + 22872168 22872261 + 25321075 25321168 + 11726556;11106375;19446021 100033423 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003326 HBII-85-11 snorna ENSG00000206609 33077 PROVISIONAL 1604106 SNORD116-12 small nucleolar RNA, C/D box 116-12 15 15 15 q11.2 3484168 3484261 + 22873290 22873383 + 25322197 25322290 + 11726556;11106375;19446021 100033424 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003327 HBII-85-12 snorna ENSG00000207197 33078 PROVISIONAL 1604105 SNORD116-13 small nucleolar RNA, C/D box 116-13 15 15 15 q11.2 3486175 3486268 + 22875297 22875390 + 25324204 25324297 + 11726556;11106375;19446021 100033425 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003328 HBII-85-13 snorna ENSG00000207137 33079 PROVISIONAL 5483724 SNORD115-47 small nucleolar RNA, C/D box 115-47 15 15 q11.2 23064757 23064789 + 25513664 25513696 + 11106375;11726556 100036567 ABBA01048691;AC100774;AMYH01006484;NG_002690;NR_003499 HBII-52-46;HBII-52-47 snorna 33065 PROVISIONAL 5483728 SNORD115-45 small nucleolar RNA, C/D box 115-45 15 15 q11.2 23060767 23060819 + 25509674 25509726 + 11106375;11726556 100036566 ABBA01048691;AC100774;AMYH01006484;NG_002690;NR_003498 HBII-52-45;SNORD115-48 snorna 33064 PROVISIONAL 1604104 SNORD116-14 small nucleolar RNA, C/D box 116-14 15 15 15 q11.2 3487259 3487352 + 22876381 22876474 + 25325288 25325381 + 11726556;11106375;19446021 100033426 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003329 HBII-85-14 snorna ENSG00000206621 33080 PROVISIONAL 1604103 SNORD116-15 small nucleolar RNA, C/D box 116-15 15 15 15 q11.2 3488404 3488497 + 22877526 22877619 + 25326433 25326526 + 11726556;11106375;19446021 100033427 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003330 HBII-85-15 snorna ENSG00000207174 33081 PROVISIONAL 1604101 SNORD116-17 small nucleolar RNA, C/D box 116-17 15 15 15 q11.2 3490705 3490798 + 22879827 22879920 + 25328734 25328827 + 11726556;11106375;19446021 100033429 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003332 HBII-85-17 snorna ENSG00000206656 33083 PROVISIONAL 1604102 SNORD116-16 small nucleolar RNA, C/D box 116-16 15 15 15 q11.2 3489885 3489978 + 22879007 22879100 + 25327914 25328007 + 11726556;11106375;19446021 100033428 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003331 HBII-85-16 snorna ENSG00000207263 33082 PROVISIONAL 1604100 SNORD116-18 small nucleolar RNA, C/D box 116-18 15 15 15 q11.2 3492502 3492595 + 22881624 22881717 + 25330531 25330624 + 6480464 11726556;11106375;19446021 100033430 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003333 HBII-85-18 snorna ENSG00000206688 33084 PROVISIONAL 1604116 SNORD116-2 small nucleolar RNA, C/D box 116-2 15 15 15 q11.2 3461329 3461425 + 22850449 22850545 + 25299356 25299452 + 11726556;11106375;19446021 100033414 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003317 HBII-85-2 snorna ENSG00000207001 33068 PROVISIONAL 1604098 SNORD116-21 small nucleolar RNA, C/D box 116-21 15 15 15 q11.2 3495921 3496014 + 22885043 22885136 + 25333950 25334043 + 11726556;11106375;19446021 100033432 AC124312;AMYH01006484;NG_002690;NR_003335 1769478 RH44910 HBII-85-21 snorna ENSG00000207236 33087 PROVISIONAL 1604097 SNORD116-22 small nucleolar RNA, C/D box 116-22 15 15 15 q11.2 3497040 3497133 + 22886162 22886255 + 25335069 25335162 + 11726556;11106375;19446021 100033433 ABBA01048690;AC124312;AMYH01006484;NG_002690;NR_003336 1769478 RH44910 HBII-85-22 snorna ENSG00000207159 33088 PROVISIONAL 1604099 SNORD116-20 small nucleolar RNA, C/D box 116-20 15 15 15 q11.2 3494779 3494872 + 22883901 22883994 + 25332808 25332901 + 11726556;11106375;19446021 100033431 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003334 1769478 RH44910 HBII-85-20 snorna ENSG00000207259 33086 PROVISIONAL 1604096 SNORD116-23 small nucleolar RNA, C/D box 116-23 15 15 15 q11.2 3498903 3498996 + 22888025 22888118 + 25336932 25337025 + 11726556;11106375;19446021 100033434 ABBA01048690;AC124312;AMYH01006484;NG_002690;NR_003337 2220378 UniSTS:480915 HBII-85-23 snorna ENSG00000207375 33089 PROVISIONAL 1604095 SNORD116-24 small nucleolar RNA, C/D box 116-24 15 15 15 q11.2 3501154 3501247 + 22890276 22890369 + 25339183 25339276 + 11726556;11106375;19446021 100033435 ABBA01048690;AC124312;AMYH01006484;NG_002690;NR_003338 HBII-85-24 snorna ENSG00000207279 33090 PROVISIONAL 1604092 SNORD116-26 small nucleolar RNA, C/D box 116-26 15 15 15 q11.2 3506615 3506712 + 22895738 22895835 + 25344645 25344742 + 11726556;11106375;19446021 100033438 ABBA01048690;AC124312;AMYH01006484;NG_002690;NR_003340 1705888;1751459 SHGC-105287;SHGC-81208 HBII-85-26 snorna ENSG00000251815 33092 PROVISIONAL 1604091 SNORD116-27 small nucleolar RNA, C/D box 116-27 15 15 15 q11.2 3508691 3508784 + 22897814 22897907 + 25346721 25346814 + 11726556;11106375;19446021 100033439 ABBA01048690;AC124312;AF250841;AMYH01006484;NG_002690;NR_003341 HBII-85-27 snorna ENSG00000251896 33093 PROVISIONAL 1606594 SNORD116-28 small nucleolar RNA, C/D box 116-28 15 15 15 q11.2 3511759 3511851 + 22900881 22900973 + 25349788 25349880 + 11726556;11106375;19446021 100033820 ABBA01048690;AC124312;AF250841;AMYH01006484;NG_002690;NR_003361 HBII-85-28 snorna ENSG00000251932 33347 PROVISIONAL 1606593 SNORD116-29 small nucleolar RNA, C/D box 116-29 15 15 15 q11.2 3513638 3513722 + 22902760 22902844 + 25351667 25351751 + 11106375;11726556;19446021 100033821 ABBA01048690;AC124303;AF250841;AMYH01006484;NG_002690;NR_003360 HBII-85-29 snorna ENSG00000207245 33348 PROVISIONAL 6481496 SNORD116-30 small nucleolar RNA, C/D box 116-30 100873856 AC124303 HBII-85-30 snorna 42797 1604115 SNORD116-3 small nucleolar RNA, C/D box 116-3 15 15 15 q11.2 3463979 3464075 + 22853099 22853195 + 25302006 25302102 + 11726556;11106375;19446021 100033415 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003318 HBII-85-3 snorna ENSG00000207014 33069 PROVISIONAL 1604113 SNORD116-5 small nucleolar RNA, C/D box 116-5 15 15 15 q11.2 3469450 3469546 + 22858572 22858668 + 25307479 25307575 + 11726556;11106375;19446021 100033417 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003320 HBII-85-5 snorna ENSG00000207191 33071 PROVISIONAL 1604114 SNORD116-4 small nucleolar RNA, C/D box 116-4 15 15 15 q11.2 3466655 3466752 + 22855777 22855874 + 25304684 25304781 + 11726556;11106375;19446021 100033416 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003319 HBII-85-4 snorna ENSG00000207464 33070 PROVISIONAL 1604112 SNORD116-6 small nucleolar RNA, C/D box 116-6 15 15 15 q11.2 3472143 3472240 + 22861265 22861362 + 25310172 25310269 + 11726556;11106375;19446021 100033418 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003321 HBII-85-6 snorna ENSG00000207442 33072 PROVISIONAL 1604110 SNORD116-8 small nucleolar RNA, C/D box 116-8 15 15 15 q11.2 3477549 3477645 + 22866671 22866767 + 25315578 25315674 + 11726556;11106375;19446021 100033420 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003323 HBII-85-8 snorna ENSG00000207093 33074 PROVISIONAL 1604111 SNORD116-7 small nucleolar RNA, C/D box 116-7 15 15 15 q11.2 3474905 3475001 + 22864027 22864123 + 25312934 25313030 + 11726556;11106375;19446021 100033419 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003322 HBII-85-7 snorna ENSG00000207133 33073 PROVISIONAL 1604109 SNORD116-9 small nucleolar RNA, C/D box 116-9 15 15 15 q11.2 3480224 3480320 + 22869346 22869442 + 25318253 25318349 + 11726556;11106375;19446021 100033421 ABBA01048689;AC124312;AMYH01006484;NG_002690;NR_003324 HBII-85-9 snorna ENSG00000206727 33075 PROVISIONAL 1602350 SNORD117 small nucleolar RNA, C/D box 117 6 6 6 p21.33 33102388 33102463 - 31612130 31612205 - 31504151 31504226 - 10684929;19446021;21912425 692233 ABBA01038080;AJ243200;AL662801;AL662847;AMYH01016217;BX001040;BX248516;BX927320;CR753820;CR753864;CT009531;NR_003140 U83 snorna 32742 PROVISIONAL 1626534 SNORD121A small nucleolar RNA, C/D box 121A 9 9 9 p13.3 33884551 33884641 - 33942762 33942852 - 33952762 33952852 - 16990247;19446021 100113379 ABBA01065034;AL139113;AMYH01019329;NR_003685 snorna 33560 PROVISIONAL 1626535 SNORD119 small nucleolar RNA, C/D box 119 20 20 20 p13 2508043 2508138 - 2391598 2391693 - 2443598 2443693 - 16990247;19446021 100113378 ABBA01053790;AL049650;AMYH01011667;NR_003684 5491649 MARC_5069-5070:996690109:1 snorna 33558 PROVISIONAL 1626523 SNORD11B small nucleolar RNA, C/D box 11B 2 2 2 q33.1 196907943 196908054 + 202864285 202864396 + 203156040 203156151 + 16990247;19446021 100113392 ABBA01062559;AC064836;AMYH01011407;NR_003694 Hs.693442 snorna 33571 PROVISIONAL 1602749 SNORD12 small nucleolar RNA, C/D box 12 20 20 20 q13.13 44601825 44601914 + 47330627 47330716 + 47897220 47897309 + 11387227;19446021 692057 ABBA01052741;AL049766;AMYH01011965;NR_003030 HBII-99;MIR1259;MIRN1259 snorna ENSG00000212304 32708 PROVISIONAL 2859191 SNORD118 small nucleolar RNA, C/D box 118 17 17 p13.1 8105024 8105159 - 8076771 8076906 - 2411727;2531075;19446021 727676 AC129492;AMYH01008088;NR_033294 2115345 D17S2157 U8 snorna ENSG00000200463 32952 VALIDATED 1604119 SNORD116-19 small nucleolar RNA, C/D box 116-19 15 15 15 q11.2 3493644 3493737 + 22882766 22882859 + 25331673 25331765 + 11726556;11106375;19446021 727708 ABBA01048689;AC124312;AF250841;AMYH01006484;NG_002690;NR_001290 1769478 RH44910 HBII-85-19 snorna ENSG00000207460 33085 VALIDATED 1626528 SNORD121B small nucleolar RNA, C/D box 121B 9 9 9 p13.3 33866087 33866179 + 33924286 33924378 - 33934286 33934378 + 16990247;19446021 101340252 AL139113;NR_102370 snorna 33569 VALIDATED 1626525 SNORD124 small nucleolar RNA, C/D box 124 17 17 17 q21.1 34843858 34843961 + 35437321 35437424 - 38183795 38183898 + 16990247;19446021 101340251 AC102799;NR_102369 snorna 33563 VALIDATED 1626533 SNORD125 small nucleolar RNA, C/D box 125 22 22 22 q12.2 13529008 13529103 - 28059152 28059247 - 29729152 29729247 - 16990247;19446021 100113380 ABBA01055261;AC002059;AMYH01012695;NR_003686 snorna 33564 PROVISIONAL 1626526 SNORD127 small nucleolar RNA, C/D box 127 14 14 14 q21.3 25441331 25441431 + 44649828 44649928 + 45580078 45580178 + 16990247;19446021 100113389 ABBA01018049;AL121809;AMYH01005702;NR_003691 Hs.712501 snorna 33555 PROVISIONAL 1604094 SNORD116-25 small nucleolar RNA, C/D box 116-25 15 15 15 q11.2 3504779 3504872 + 22893902 22893995 + 25342809 25342902 + 11726556;11106375;19446021 100033436 ABBA01048690;AC124312;AMYH01006484;NG_002690;NR_003339 HBII-85-25 snorna ENSG00000252326 33091 PROVISIONAL 1626524 SNORD126 small nucleolar RNA, C/D box 126 14 14 14 q11.2 655747 655845 - 19864440 19864538 - 20794600 20794698 - 19272437;16990247;19446021 100113391 ABBA01061225;AL355075;AMYH01005586;NR_003693 1764671 SHGC-148260 MIR1201;MIRN1201 snorna 33565 PROVISIONAL 1626522 SNORD12B small nucleolar RNA, C/D box 12B 20 20 20 q13.13 44601455 44601557 + 47896850 47896952 + 47896850 47896952 + 16990247;19446021 100113393 ABBA01052741;AL049766;AMYH01011965;NR_003695 Hs.711216 snorna ENSG00000222365 33573 PROVISIONAL 1602330 SNORD12C small nucleolar RNA, C/D box 12C 20 20 q13.13 44600087 44600165 + 47895482 47895560 + 6480464 14602913;8415643;19446021 26765 ABBA01052741;AL049766;AMYH01011965;AY349607;NR_002433 E2;E2-1;E3;RNU106;SNORD106;U106 snorna ENSG00000209042 10105 PROVISIONAL 1346573 SNORD13P1 small nucleolar RNA, C/D box 13 pseudogene 1 22 22 q13.2 26278265 26278367 - 42472063 42472165 - 1748306;15574332 6076 NG_008259;X58061;Z99716 RNU13P1;U13;U13.32A APPROVED pseudo 10110 INFERRED 1602742 SNORD13 small nucleolar RNA, C/D box 13 8 8 8 p12 32320698 32320801 + 33490535 33490638 + 33370993 33371096 + 6480464 8973634;8721999;2531075;2247610;19446021 692084 ABBA01023609;AC091144;AMYH01018631;NG_033257;NR_003041 RNU13;U13 snorna ENSG00000239039 32711 PROVISIONAL 1353610 SNORD13P3 small nucleolar RNA, C/D box 13 pseudogene 3 3 3 p21.31 47230626 47230727 - 47292015 47292116 - 1748306 6078 ABBA01024699;AC104447;AMYH01013141;NG_008261;X58062 RNU13P3;U13;U13.4B APPROVED pseudo 10112 INFERRED 1354215 SNORD14A small nucleolar RNA, C/D box 14A 11 11 11 p15 17224090 17224181 - 17052776 17052867 - 17096200 17096291 - 8920921;19446021 26822 AC116533;AMYH01003413;D88010;NR_000022 RNU14;RNU14A;U14;U14-S13-5 snorna 10113 PROVISIONAL 1344331 SNORD13P2 small nucleolar RNA, C/D box 13 pseudogene 2 7 7 7 p22.1 4688707 4688911 + 4729060 4729264 + 4729060 4729264 + 6480464 9847074;1748306 6077 ABBA01039429;AC072054;AMYH01016990;NG_008260;X58060 RNU13P2;U13;U13.12A APPROVED pseudo 10111 INFERRED 2798060 SNORD14E small nucleolar RNA, C/D box 14E 11 11 11 q23.3-q25 120088114 120088193 - 122433837 122434168 - 122928785 122928864 - 6480464 2251119;3037489;7545947 85391 ABBA01031277;AMYH01004098;AP000926;NG_029473;NR_003125;Y00371 1684136;2116590 RH27394;WI-12733 snorna 30354 VALIDATED 1351969 SNORD14B small nucleolar RNA, C/D box 14B 11 11 11 p15 17225215 17225305 - 17053901 17053991 - 17097325 17097415 - 8920921;19446021 85388 ABBA01061070;AC116533;AMYH01003413;D88010;NR_001452 RNU14B;U14;U14B snorna 31803 PROVISIONAL 1343552 SNORD15A small nucleolar RNA, C/D box 15A 11 11 11 q13.4 72419186 72419333 + 74789083 74789230 + 75111435 75111582 + 6480464 8319909;7789996;19446021 6079 ABBA01017466;AMYH01003816;AP000744;L15616;L16016;NR_000005 Hs.689081 RNU15A;SNORNA;U15A snorna 10114 600455 VALIDATED 1352212 SNORD15B small nucleolar RNA, C/D box 15B 11 11 11 q13.4 72423216 72423361 + 74793113 74793258 + 75115465 75115610 + 11943484;8319909;7789996;19446021 114599 ABBA01017466;AF281313;AMYH01003816;AP000744;L15557;NR_000025 Hs.689080 RNU15B;U15B snorna 16649 PROVISIONAL 1602022 SNORD16 small nucleolar RNA, C/D box 16 15 15 15 q22 43684495 43684594 - 64582203 64582302 - 66795149 66795248 - 11875025;8674114;8335006;19446021 595097 AB061820;ABBA01038819;AC116913;AMYH01006723;NR_002440 Hs.739034 U16 snorna 32712 PROVISIONAL 1602021 SNORD18A small nucleolar RNA, C/D box 18A 15 15 15 q22 43684929 43684998 - 64582637 64582706 - 66795583 66795652 - 11875025;8674114;7507233;19446021 595098 AB061820;ABBA01038819;AC116913;AMYH01006723;NR_002441 U18A snorna 32714 PROVISIONAL 1602740 SNORD17 small nucleolar RNA, C/D box 17 20 20 20 p11.23 18017899 18018135 - 17891353 17891589 - 17943353 17943589 - 11387227;19446021 692086 ABBA01054034;AL121585;AMYH01011740;NR_003045 Hs.680747 HBI-43 snorna 32713 PROVISIONAL 1602020 SNORD18B small nucleolar RNA, C/D box 18B 15 15 15 q22 43683705 43683774 - 64581414 64581483 - 66794360 66794429 - 11875025;8674114;7507233;19446021 595099 AB061820;ABBA01038819;AC116913;AMYH01006723;NR_002442 U18B snorna 32715 PROVISIONAL 1601897 SNORD18C small nucleolar RNA, C/D box 18C 15 15 15 q22 43682795 43682861 - 64580644 64580710 - 66793590 66793656 - 11875025;8674114;7507233;19446021 595100 AB061820;ABBA01038819;AC116913;AMYH01006723;NR_002443 U18C snorna 32716 PROVISIONAL 1602549 SNORD1A small nucleolar RNA, C/D box 1A 17 17 q25.1 71150054 71150127 + 74557715 74557788 + 6480464 14960365;19446021 677848 ABBA01028738;AC015802;AJ543324;AMYH01008645;NR_004395 1698056 RH102560 R38A;snR38A snorna ENSG00000201838 32556 PROVISIONAL 1602737 SNORD19 small nucleolar RNA, C/D box 19 3 3 3 p21.1 52701967 52702042 + 52698296 52698371 + 52723256 52723331 + 11387227;19446021;21926972;22763110 692089 ABBA01024500;AC104446;AMYH01013188;NG_027871;NG_032108;NR_003047 HBII-108 snorna 32717 VALIDATED 1626532 SNORD19B small nucleolar RNA, C/D box 19B 3 3 3 p21.1 52703465 52703557 + 52699794 52699886 + 52724754 52724846 + 16990247;19446021;21926972 100113381 ABBA01024500;AC104446;AMYH01013188;NG_027871;NG_032108;NR_003687 snorna 33570 VALIDATED 1602548 SNORD1B small nucleolar RNA, C/D box 1B 17 17 q25.1 71149529 71149614 + 74557190 74557275 + 14960365;19446021 677849 ABBA01028738;AC015802;AJ543325;AMYH01008645;NR_004396 R38B;snR38B snorna ENSG00000199961 32676 PROVISIONAL 1602547 SNORD1C small nucleolar RNA, C/D box 1C 17 17 q25.1 71147213 71147290 + 74554874 74554951 + 6480464 14960365;19446021 677850 ABBA01028738;AC015802;AJ543326;AMYH01008645;NR_004397 R38C;snR38C snorna ENSG00000200185 32677 PROVISIONAL 1602241 SNORD2 small nucleolar RNA, C/D box 2 3 3 3 q27 184938747 184938816 + 187985279 187985348 + 186502585 186502654 + 14960365;19446021 619567 ABBA01058381;AC112907;AMYH01013736;NR_002587 R39B;SNR39B snorna 32678 PROVISIONAL 1351179 SNORD20 small nucleolar RNA, C/D box 20 2 2 2 q37.1 226097508 226097587 - 232029399 232029478 - 232321155 232321234 - 6480464 8065311;2394707;19446021 6082 ABBA01002057;AC017104;AMYH01011558;NR_002908;Z34290 1679593;1713497;5017595 NCL;RH120232;RH65048 RNU20;U20 snorna 10143 604012 PROVISIONAL 1352254 SNORD21 small nucleolar RNA, C/D box 21 This gene encodes a small nucleolar RNA (snoRNA) that may be involved in biogenesis of the large (28S) ribosomal subunit. This gene is found within an intron of the RPL5 gene. [provided by RefSeq, Mar 2009] 1 1 1 p22.1 91556438 91556532 + 93075434 93075528 + 93302846 93302940 + 6480464 7937132;19446021 6083 ABBA01045531;AL162740;AMYH01000800;NG_011779;NG_033051;NR_000006;Z35312 1707184 SHGC-79177 RNU21;U21 APPROVED snorna 10144 603635 REVIEWED 1344519 SNORD22 small nucleolar RNA, C/D box 22 11 11 11 q13 59943778 59943903 - 62376958 62377083 - 62620382 62620507 - 6480464 9387929;8559254;7985025;19446021 9304 ABBA01003246;AMYH01003691;AP001160;L36588;NR_000008;U40580 Hs.744737 1792336 PMC14794P1 RNU22;U22 snorna ENSG00000207487 10145 603223 VALIDATED 1602735 SNORD23 small nucleolar RNA, C/D box 23 19 19 19 q13.32 45064811 45064920 + 52950922 52951031 + 48259110 48259219 + 11387227;19446021 692091 ABBA01041056;AC008745;AMYH01009889;NR_003048 Hs.421907 1682708 RH91488 HBII-115 snorna 32718 PROVISIONAL 1349393 SNORD24 small nucleolar RNA, C/D box 24 9 9 9 q34 106766737 106766811 + 135206072 135206146 + 136216251 136216325 + 9703018;8674114;8482538;7651828;19446021 26820 ABBA01032461;AC002107;AL158826;AL772161;AMYH01021800;NR_002447;Z48764;Z48765 1852786 RP_L7A RNU24;U24 snorna 10146 VALIDATED 2798088 SNORD14C small nucleolar RNA, C/D box 14C 11 11 11 q23.3-q25 120089372 120089459 - 122435180 122435390 - 122930043 122930130 - 3037489;7545947;2251119 85389 ABBA01031277;AMYH01004098;AP000926;NG_029473;NR_001453;Y00371 snorna 30352 VALIDATED 1346154 SNORD25 small nucleolar RNA, C/D box 25 11 11 11 q13 59946433 59946499 - 62379613 62379679 - 62623037 62623103 - 9387929;8559254;19446021 9303 ABBA01003246;AF081279;AMYH01003691;AP001160;NR_002565;U40580 2132004 AF081279 RNU25;U25 snorna ENSG00000202477 10147 603224 PROVISIONAL 2798093 SNORD14D small nucleolar RNA, C/D box 14D 11 11 11 q23.3-q25 120088946 120089032 - 122434749 122434976 - 122929617 122929703 - 2251119;3037489;7545947 85390 ABBA01031277;AMYH01004098;AP000926;NG_029473;NR_001454;Y00371 snorna 30353 VALIDATED 1348733 SNORD26 small nucleolar RNA, C/D box 26 11 11 11 q13 59946160 59946234 - 62379340 62379414 - 62622764 62622838 - 9387929;8559254;19446021 9302 ABBA01003246;AMYH01003691;AP001160;NR_002564;U40580 2132004 AF081279 RNU26;U26 snorna ENSG00000206874 10148 603225 PROVISIONAL 1352918 SNORD27 small nucleolar RNA, C/D box 27 11 11 11 q13 59945880 59945951 - 62379060 62379131 - 62622484 62622555 - 9387929;8559254;19446021 9301 ABBA01003246;AMYH01003691;AP001160;NR_002563;U40580 2132004 AF081279 RNU27;U27 snorna ENSG00000200851 10149 603226 PROVISIONAL 1343428 SNORD28 small nucleolar RNA, C/D box 28 11 11 11 q13 59945489 59945563 - 62378669 62378743 - 62622093 62622167 - 6480464 9387929;8559254;19446021 9300 ABBA01003246;AMYH01003691;AP001160;NR_002562;U40580 2132004 AF081279 RNU28;U28 snorna ENSG00000207437 10150 603227 PROVISIONAL 1346054 SNORD29 small nucleolar RNA, C/D box 29 11 11 11 q13 59944772 59944836 - 62377952 62378016 - 62621376 62621440 - 9387929;8559254;19446021 9297 ABBA01003246;AMYH01003691;AP001160;NR_002559;U40580 RNU29;U29 snorna ENSG00000206653 10151 603228 PROVISIONAL 1349433 SNORD30 small nucleolar RNA, C/D box 30 11 11 11 q13 59944531 59944600 - 62377711 62377780 - 62621135 62621204 - 6480464 9387929;8559254;19446021 9299 ABBA01003246;AMYH01003691;AP001160;NR_002561;U40580 RNU30;U30 snorna ENSG00000207424 10157 603229 PROVISIONAL 1350784 SNORD31 small nucleolar RNA, C/D box 31 11 11 11 q13 59944194 59944261 - 62377374 62377441 - 62620798 62620865 - 9387929;8559254;19446021 9298 ABBA01003246;AMYH01003691;AP001160;NR_002560;U40580 1792336 PMC14794P1 RNU31;U31 snorna ENSG00000201669 10158 603230 PROVISIONAL 1342801 SNORD32A small nucleolar RNA, C/D box 32A 19 19 19 q13.3 46862546 46862627 + 54685035 54685116 + 49993223 49993304 + 10580157;8764399;19446021 26819 AB028893;ABBA01032924;AC010619;AMYH01009912;NR_000021;X94598 RNU32;U32;U32A snorna 10159 PROVISIONAL 1348219 SNORD33 small nucleolar RNA, C/D box 33 19 19 19 q13.3 46863197 46863279 + 54685686 54685768 + 49993874 49993956 + 10580157;8764399;19446021 26818 AB028893;ABBA01032924;AC010619;AMYH01009912;NR_000020;X94599 RNU33;U33 snorna 10160 PROVISIONAL 1602734 SNORD32B small nucleolar RNA, C/D box 32B 6 6 6 p22.1 31156118 31156194 + 29658008 29658084 + 29550029 29550105 + 8764399;19446021 692092 ABBA01038033;AL645936;AL662826;AMYH01016195;BX000688;BX927223;CR759766;CR759870;CR788300;NR_003049 U32B snorna ENSG00000201330 32719 PROVISIONAL 1350805 SNORD34 small nucleolar RNA, C/D box 34 19 19 19 q13.3 46863487 46863552 + 54685976 54686041 + 49994164 49994229 + 10580157;8764399;19446021 26817 AB028893;ABBA01032924;AC010619;AMYH01009912;NR_000019;X94600 RNU34;U34 snorna 10161 PROVISIONAL 1353609 SNORD35A small nucleolar RNA, C/D box 35A 19 19 19 q13.3 46863755 46863840 + 54686244 54686329 + 49994432 49994517 + 10580157;8764399;19446021 26816 AB028893;ABBA01032924;AC010619;AMYH01009912;NR_000018;X94601 RNU35;RNU35A;U35 snorna 10162 PROVISIONAL 1346245 SNORD35B small nucleolar RNA, C/D box 35B 19 19 19 q13.3 46870317 46870404 + 54692788 54692875 + 50000976 50001063 + 10580157;19446021;23022100;21909109 84546 AB028893;ABBA01032923;AC010619;AMYH01009912;NR_001285 2152977;5094709 MARC_4679-4680:996679598:1;RH66611 RNU35B;U35B snorna 17365 PROVISIONAL 1352325 SNORD36A small nucleolar RNA, C/D box 36A 9 9 9 q34 106767797 106767868 + 135207132 135207203 + 136217311 136217382 + 9703018;8764399;19446021 26815 ABBA01032461;AC002107;AJ003040;AL158826;AL593848;AL772161;AMYH01021800;NG_008477;NR_002448;X97584 1852786 RP_L7A RNU36A;U36a snorna 10163 VALIDATED 1350667 SNORD36B small nucleolar RNA, C/D box 36B 9 9 9 q34 106767435 106767505 + 135206770 135206840 + 136216949 136217019 + 6480464 9703018;8764399;19446021 26814 ABBA01032461;AC002107;AJ003039;AL158826;AL772161;AMYH01021800;NG_008477;NR_000017 1852786 RP_L7A RNU36B;U36b snorna 10164 VALIDATED 1347255 SNORD36C small nucleolar RNA, C/D box 36C 9 9 9 q34 106768187 106768254 + 135207522 135207589 + 136217701 136217768 + 9703018;8764399;19446021 26813 ABBA01032461;AC002107;AJ003041;AL158826;AL593848;AMYH01021800;NG_008477;NR_000016;X97587 1852786 RP_L7A RNU36C;U36c snorna 10165 VALIDATED 1352874 SNORD37 small nucleolar RNA, C/D box 37 19 19 19 p13.3 3918580 3918645 - 3933505 3933570 - 3982505 3982570 - 8764399;19446021 26812 ABBA01002861;AC011488;AMYH01009321;NR_002602;X94602 1734648 D19S643E RNU37;U37 snorna 10166 PROVISIONAL 1342819 SNORD38A small nucleolar RNA, C/D box 38A 1 1 1 p34.1 43526401 43526471 + 45016101 45016171 + 45243514 45243584 + 6480464 8764399;19446021 94162 ABBA01050909;AL592166;AMYH01000567;NR_001456;X67247 RNU38A;U38A snorna 30355 PROVISIONAL 1346070 SNORD38B small nucleolar RNA, C/D box 38B 1 1 1 p34.1 43526949 43527017 + 45016649 45016717 + 45244062 45244130 + 6480464 8764399;19446021 94163 ABBA01050909;AL592166;AMYH01000567;NR_001457;X67247 2182395;7185033 D1S1544 RNU38B;U38B snorna 30356 PROVISIONAL 1642510 SNORD3B-2 small nucleolar RNA, C/D box 3B-2 17 17 p11.2 18907958 18908174 - 18967233 18967449 - 9365252;2531075 780852 AC007952;AF020535;AF020536;AMYH01008199;NR_003924 U3-2B;U3b2 snorna ENSG00000201750 33190 VALIDATED 2289761 SNORD3D small nucleolar RNA, C/D box 3D 17 p11.2 19015733 19015949 - 9365252 780854 AC007952;AMYH01008212;NR_006882 U3-4 snorna ENSG00000199663 33192 PROVISIONAL 2289762 SNORD3C small nucleolar RNA, C/D box 3C 17 p11.2 19093342 19093558 - 9365252;2531075 780853 AC106017;NR_006881 U3-3 snorna ENSG00000199298 33191 PROVISIONAL 1344851 SNORD41 small nucleolar RNA, C/D box 41 19 19 19 p13.2 12706976 12707045 - 12678263 12678332 - 12817263 12817332 - 8674114;19446021 26810 ABBA01029779;AC018761;AMYH01009495;NR_002751;X96640 RNU41;U41 snorna 10179 PROVISIONAL 1626529 SNORD123 small nucleolar RNA, C/D box 123 5 5 5 p15.2 9589251 9589338 + 9601939 9602026 + 9548939 9549026 + 6480464 16990247;14702039;19446021 100113384 ABBA01020592;AC034214;AMYH01014902;NG_016410;NR_003689 1652654;1670732;1685019;1721355;5093710 A009V21;G32878;G59677;RH45251;RH93727 snorna 33562 VALIDATED 1354029 SNORD42A small nucleolar RNA, C/D box 42A 17 17 17 q11 23909611 23909672 + 24074575 24074636 + 27050448 27050509 + 6480464 9417910;8674114;19446021 26809 ABBA01015048;AC010761;AF001689;AMYH01008282;NR_000014;X96641 RNU42A;U42;U42A snorna 10180 PROVISIONAL 1351888 SNORD42B small nucleolar RNA, C/D box 42B 17 17 17 q11 23906733 23906799 + 24071695 24071761 + 27047568 27047634 + 6480464 9417910;19446021 26808 ABBA01015048;AC010761;AF001689;AJ224023;AMYH01008282;NR_000013 RNU42B;U42B snorna 10181 PROVISIONAL 1348712 SNORD44 small nucleolar RNA, C/D box 44 1 1 1 q25.1 146944575 146944635 - 172101729 172101789 - 173835106 173835166 - 6480464 8674114;19446021 26806 ABBA01027896;AL136170;AMYH01001505;NR_002750;X96643 RNU44;U44 snorna 10183 VALIDATED 1346020 SNORD43 small nucleolar RNA, C/D box 43 Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23517173 23517234 - 38045003 38045064 - 39715057 39715118 - 6480464 10684968;8674114;19446021 26807 ABBA01055560;AJ238853;AL022326;AMYH01012776;NR_002439;X96642 1747525 G65387 RNU43;U43 APPROVED snorna 10182 611068 PROVISIONAL 1342927 SNORD45A small nucleolar RNA, C/D box 45A 1 1 1 p31.1 74493484 74493567 + 76026162 76026245 + 76253574 76253657 + 8674114;19446021 26805 ABBA01074416;AL357314;AMYH01000713;NR_002749;X96644 RNU45A;U45a snorna 10184 PROVISIONAL 1351466 SNORD45B small nucleolar RNA, C/D box 45B 1 1 1 p31.1 74495072 74495142 + 76027750 76027820 + 76255162 76255232 + 8674114;19446021 26804 ABBA01074416;AL357314;AMYH01000713;NR_002748;X96645 1680132 RH64622 RNU45B;U45b snorna 10185 PROVISIONAL 1602741 SNORD45C small nucleolar RNA, C/D box 45C 1 1 1 p31.1 74492667 74492744 + 76025345 76025422 + 76252757 76252834 + 6480464 8674114;19446021 692085 ABBA01074416;AL357314;AMYH01000713;NR_003042 U45C snorna 32720 PROVISIONAL 1346025 SNORD46 small nucleolar RNA, C/D box 46 1 1 1 p34.1 43525051 43525148 + 45014751 45014848 + 45242164 45242261 + 6480464 8764399;8674114;19446021 94161 ABBA01050909;AL592166;AMYH01000567;NR_000024;X67247;X96646;Z69628 RNU40;RNU46;U40;U46 snorna 10186 PROVISIONAL 1350035 SNORD47 small nucleolar RNA, C/D box 47 1 1 1 q25.1 146942976 146943052 - 172100130 172100206 - 173833507 173833583 - 8674114;19446021 26802 ABBA01027896;AL136170;AMYH01001505;NR_002746;X96647 1791400 PMC109273P2 RNU47;U47 snorna ENSG00000202394 10187 PROVISIONAL 1353404 SNORD49A small nucleolar RNA, C/D box 49A 17 17 17 p11.2 16246249 16246319 + 16284075 16284145 + 16343350 16343420 + 6480464 8674114;19446021 26800 ABBA01035652;AC093484;AMYH01008149;NR_002744;X96649 1783516 SHGC-149766 RNU49;U49;U49A snorna ENSG00000206956 10189 PROVISIONAL 1352935 SNORD48 small nucleolar RNA, C/D box 48 6 6 6 p21.33 33401292 33401354 + 31911019 31911082 + 31803040 31803103 + 8674114;19446021;23382691;20041166 26801 ABBA01038089;AL662834;AL671762;AL929592;AMYH01016219;CR388202;CR759915;NR_002745;X96648 2131873 RH47136 RNU48;U48 snorna ENSG00000201823 10188 PROVISIONAL 1351412 SNORD3B-1 small nucleolar RNA, C/D box 3B-1 17 17 p11.2 37418900 37418971 - 18965225 18965441 + 9365252;2531075 26851 AC007952;AF020532;AF020533;AF020534;AMYH01008199;NR_003271 RNU3A1;U3a;U3b1;U3b2 snorna ENSG00000200229 10168 VALIDATED 1602739 SNORD49B small nucleolar RNA, C/D box 49B 17 17 17 p11.2 16245722 16245769 + 16283548 16283595 + 16342823 16342870 + 6480464 8674114;19446021 692087 ABBA01035652;AC093484;AMYH01008149;NR_003043 U49B snorna 32721 PROVISIONAL 1345375 SNORD4A small nucleolar RNA, C/D box 4A 17 17 17 q11 23908763 23908834 + 24073727 24073798 + 27049600 27049671 + 6480464 9417910;19446021 26773 ABBA01015048;AC010761;AF001689;AJ224024;AMYH01008282;NR_000010 RNU101A;Z17A;mgh18S-121 snorna 10097 PROVISIONAL 1346958 SNORD4B small nucleolar RNA, C/D box 4B 17 17 17 q11 23909862 23909935 + 24074826 24074899 + 27050699 27050772 + 6480464 9417910;19446021 26772 ABBA01015048;AC010761;AF001689;AJ224025;AMYH01008282;NR_000009 1690748 RH78645 RNU101B;Z17B snorna 10098 PROVISIONAL 2289763 SNORD3A small nucleolar RNA, C/D box 3A U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009] 17 17 p11.2 19091329 19091545 + 19091329 19091545 + 15574333;15574332;9365252;8440138;6186397;2719960;2531075;21505065 780851 AC106017;AMYH01008225;K00777;NR_006880 RNU3;U3 APPROVED snorna ENSG00000202364 33189 180710 PROVISIONAL 1345508 SNORD50A small nucleolar RNA, C/D box 50A SNORD50A belongs to the C/D box class of small nucleolar RNAs (snoRNAs), which are thought to function as guide RNAs in the site-specific ribose methylation of preribosomal RNA (Kiss-Laszlo et al., 1996 [PubMed 8674114]).[supplied by OMIM, Nov 2009] 6 6 6 q14.3 86814206 86814280 - 86443731 86443805 - 86387012 86387086 - 6480464 18202102;10792466;8674114;19683667;19446021 26799 AB017710;ABBA01040478;AL355615;NR_002743;X96662 1659002;1857426;1858337;2176557 RH46859;SHGC-33135;SHGC-58311;WI-13410 RNU50;U50 APPROVED snorna ENSG00000207066 10200 613117 VALIDATED 1602746 SNORD5 small nucleolar RNA, C/D box 5 11 11 11 q21 90757846 90757918 - 93106042 93106114 - 93466394 93466466 - 15199136;19446021 692072 ABBA01040043;AJ609488;AMYH01003959;AP001273;NR_003033 2147584 D11S4684 mgh28S-2410 snorna ENSG00000239195 32702 PROVISIONAL 1602738 SNORD50B small nucleolar RNA, C/D box 50B SNORD50B is a C/D box-type small nucleolar RNA (snoRNA) that is predicted to function as a guide RNA in 2-prime O-methylation of 28S ribosomal RNA (Tanaka et al., 2000 [PubMed 10792466]).[supplied by OMIM, Feb 2010] 6 6 6 q14.3 86814501 86814571 - 86444026 86444096 - 86387307 86387377 - 6480464 10792466;19446021 692088 AB017710;ABBA01040478;AL355615;AMYH01016480;NR_003044 1659002;1857426;1858337;2176557 RH46859;SHGC-33135;SHGC-58311;WI-13410 U50';U50B APPROVED snorna ENSG00000201865 32722 613264 VALIDATED 1347366 SNORD51 small nucleolar RNA, C/D box 51 2 2 2 q33 200784035 200784104 + 206734850 206734919 + 207026605 207026674 + 6480464 8674114;19446021 26798 ABBA01062650;AC007383;AMYH01011436;NG_009248;NR_002589;X96650 RNU51;U51 snorna 10201 VALIDATED 1346681 SNORD53 small nucleolar RNA, C/D box 53 2 2 2 p23.2 28994617 28994692 + 29003437 29003514 + 29149933 29150008 + 6480464 8674114;19446021 26796 ABBA01045243;AC097720;AMYH01010207;NR_002741;X96652 RNU53;U53 snorna 10203 PROVISIONAL 1344796 SNORD52 small nucleolar RNA, C/D box 52 6 6 6 p21.33 33403103 33403166 + 31912832 31912895 + 31804853 31804916 + 6480464 8674114;20041166;19446021 26797 ABBA01038089;AL662834;AL671762;AL929592;AMYH01016219;CR388202;CR759915;NR_002742;X96651 2155308 RH46105 RNU52;U52 snorna ENSG00000201754 10202 PROVISIONAL 1345062 SNORD56B small nucleolar RNA, C/D box 56B 14 14 14 q24.2 51928307 51928377 + 70934807 70934877 + 71865054 71865124 + 319139 ABBA01030796;AC005994;AMYH01005835;NR_001276 RNU56B snorna ENSG00000207444 19771 PROVISIONAL 1344613 SNORD54 small nucleolar RNA, C/D box 54 8 8 8 q12 52978235 52978297 - 57148952 57149014 - 56986398 56986460 - 6480464 8674114;19446021 26795 ABBA01041760;AC107376;AMYH01018734;NR_002437;X96653 2184691 D8S1961 RNU54;U54 snorna 10204 PROVISIONAL 1351914 SNORD55 small nucleolar RNA, C/D box 55 1 1 1 p34.1 43524424 43524497 + 45014124 45014197 + 45241537 45241610 + 6480464 8764399;8674114;19446021 26811 ABBA01050909;AL592166;AMYH01000567;NR_000015;X67247;X96654;Z69626 RNU39;RNU55;SNORD39;U39;U55 snorna 10205 PROVISIONAL 1349350 SNORD56 small nucleolar RNA, C/D box 56 20 20 20 p13 2701733 2701803 + 2585270 2585340 + 2637270 2637340 + 8674114;19446021 26793 ABBA01053795;AL049712;AMYH01011668;NG_012149;NG_032136;NR_002739;X96655 5491266 MARC_6809-6810:992007497:1 RNU56;U56 snorna 10206 VALIDATED 1345494 SNORD57 small nucleolar RNA, C/D box 57 20 20 20 p13 2702048 2702119 + 2585585 2585656 + 2637585 2637656 + 8674114;19446021 26792 ABBA01053795;AL049712;AMYH01011668;NG_012149;NG_032136;NR_002738;X96656 2116650;5491266 MARC_6809-6810:992007497:1;WI-18557 RNU57;U57 snorna 10207 VALIDATED 1354480 SNORD58A small nucleolar RNA, C/D box 58A 18 18 18 q21 43873009 43873073 - 45271651 45271715 - 47017653 47017717 - 6480464 8674114;19446021 26791 AB061824;ABBA01018653;AC100778;AMYH01008990;NR_002571;X96657 RNU58A;U58a snorna 10208 PROVISIONAL 1345763 SNORD58B small nucleolar RNA, C/D box 58B 18 18 q21 43873390 43873455 - 47018034 47018099 - 8674114;19446021 26790 AB061824;ABBA01018653;AC100778;AMYH01008990;NR_002572;X96658 RNU58B;U58b snorna 10209 PROVISIONAL 1642109 SNORD58C small nucleolar RNA, C/D box 58C 18 18 18 q21.1 43870960 43871050 - 47015605 47015694 - 47015605 47015694 - 16990247;11875025;19446021 100124516 AB061824;ABBA01018653;AC100778;AMYH01008990;NR_003701 U58 snorna 33613 PROVISIONAL 1345043 SNORD59A small nucleolar RNA, C/D box 59A 12 12 12 p13.3 56690523 56690597 - 55325078 55325152 - 57038811 57038885 - 8674114;19446021 26789 ABBA01008432;AC090681;AMYH01004506;NR_002737;X96659 1736226 D12S1168E RNU59;U59 snorna 10210 PROVISIONAL 1602736 SNORD59B small nucleolar RNA, C/D box 59B 12 12 12 q13.3 56689176 56689250 - 55323731 55323805 - 57037464 57037538 - 8674114;19446021 692090 ABBA01008432;AC090681;AMYH01004506;NR_003046 1736226 D12S1168E U59B snorna 32723 PROVISIONAL 1602744 SNORD6 small nucleolar RNA, C/D box 6 11 11 11 q21 90756121 90756191 - 93104317 93104387 - 93464669 93464739 - 6480464 15199136;19446021 692075 ABBA01040043;AJ609489;AMYH01003959;AP001273;NR_003036 2147584 D11S4684 mgh28S-2412 snorna ENSG00000202314 32703 PROVISIONAL 1344326 SNORD60 small nucleolar RNA, C/D box 60 16 16 16 p13.3 2419443 2419525 - 2145025 2145107 - 2205024 2205106 - 8674114;19446021 26788 ABBA01030271;AC009065;AMYH01007052;NR_002736;X96660 5124603 RH93955 RNU60;U60 snorna ENSG00000206630 10217 PROVISIONAL 1351384 SNORD62A small nucleolar RNA, C/D box 62A 9 9 9 q34.13 104901229 104901314 + 133350873 133350958 + 134361052 134361137 + 8962077;19446021 26786 ABBA01012097;AL358781;AMYH01021779;NR_002914;U72851 RNU62;U62;U62A snorna 10219 PROVISIONAL 1354078 SNORD61 small nucleolar RNA, C/D box 61 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009] X X X q26.3 136324966 136325038 - 135789024 135789096 - 135961358 135961430 - 11387227;8674114;19446021 26787 AL683813;AMYH01023051;NG_012918;NR_002735;X96661 2156965 WI-11365 HBII-342;RNU61;U61 APPROVED snorna 10218 VALIDATED 1602733 SNORD62B small nucleolar RNA, C/D box 62B 9 9 q34.13 104906053 104906138 + 134365873 134365958 + 8962077;19446021 692093 ABBA01012097;AL358781;AMYH01021779;NR_003050 U62;U62B snorna 23031 PROVISIONAL 1348341 SNORD63 small nucleolar RNA, C/D box 63 5 5 5 q31.2 134018593 134018660 - 137924631 137924698 - 137896732 137896799 - 6480464 8962077;19240791;19446021 26785 ABBA01068667;AC011385;AMYH01015642;NG_029469;NR_002913;U72852 RNU63;U63 snorna 10220 VALIDATED 1605532 SNORD64 small nucleolar RNA, C/D box 64 This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010] 15 15 15 q12 3392240 3392306 + 22781340 22781406 + 25230247 25230313 + 6480464 11106375;19446021 347686 ABBA01048688;AC124312;AMYH01006484;NG_002690;NR_001294 HBII-13 APPROVED snorna ENSG00000209418 32725 REVIEWED 1602544 SNORD65 small nucleolar RNA, C/D box 65 17 17 p11.2 16285265 16285337 + 16344540 16344612 + 11387227;19446021 692106 AC093484;NR_003054 1783516;2160830 RH66249;SHGC-149766 HBII-135 snorna ENSG00000212381 32726 PROVISIONAL 1602543 SNORD66 small nucleolar RNA, C/D box 66 3 3 3 q27.1 182484380 182484455 + 185526178 185526253 + 184043484 184043559 + 11387227;19446021 692107 ABBA01058448;AC078797;AMYH01013718;NG_016850;NR_003055 HBII-142 snorna 32727 VALIDATED 1602542 SNORD67 small nucleolar RNA, C/D box 67 11 11 11 p11.2 46929944 46930054 - 46740515 46740625 - 46783939 46784049 - 11387227;19446021 692108 ABBA01060730;AC115088;AMYH01003536;NG_029924;NR_003056 Hs.693252 HBII-166 snorna 32728 VALIDATED 1602248 SNORD68 small nucleolar RNA, C/D box 68 16 16 16 q24.3 74691344 74691415 + 88155339 88155410 + 89627838 89627909 + 6480464 11387227;2247610;19446021 606500 ABBA01014145;AC092123;AMYH01007931;NR_002450 1730956;7184755 D16S444E HBII-202 snorna 32729 PROVISIONAL 1602743 SNORD7 small nucleolar RNA, C/D box 7 This gene encodes a spliceosomal small nuclear RNA that has orthologs in S. pombe and D. melanogaster. In S. pombe, this gene is required for site-specific 2'-O-methylation of U6 snRNA at position A41. While this is not an essential gene for S. pombe growth, loss of this gene's function may result in a slight decrease in mRNA splicing efficiency. [provided by RefSeq, Oct 2008] 17 17 17 q12 30810810 30810906 + 30924789 30924885 + 33900676 33900772 + 11842100;19446021;22139419 692076 ABBA01011230;AC015911;AJ007733;AMYH01008354;NG_008447;NR_003037 Z30;mgU6-47 APPROVED snorna ENSG00000207297 32704 REVIEWED 1602540 SNORD70 small nucleolar RNA, C/D box 70 2 2 2 q33.1 196893057 196893144 + 202849399 202849486 + 203141154 203141241 + 11387227;19446021 692110 ABBA01062559;AC064836;AMYH01011407;NR_003058 HBII-234 snorna 32731 PROVISIONAL 1602541 SNORD69 small nucleolar RNA, C/D box 69 3 3 3 p21.1 52705463 52705539 + 52701792 52701868 + 52726752 52726828 + 11387227;19446021;21926972 692109 ABBA01024500;AC104446;AMYH01013188;NG_027871;NR_003057 2168196 IB223 HBII-210 snorna 32730 VALIDATED 1602539 SNORD71 small nucleolar RNA, C/D box 71 16 16 16 q22.2 56108468 56108553 - 70349806 70349891 - 71792305 71792390 - 11387227;19446021 692111 ABBA01016783;AC010653;AMYH01007791;NR_003059 HBII-239;MIRN768;hsa-mir-768 snorna 32732 PROVISIONAL 1347544 SNORD73A small nucleolar RNA, C/D box 73A 4 4 4 q31.3 149346645 149346709 + 152244429 152244493 + 152024979 152025043 + 6480464 9573378;19446021 8944 ABBA01070104;AC095055;AMYH01014614;NR_000007;X87373;Z83330;Z83334 RNU73;RNU73A;U73;U73a snorna 10235 603568 PROVISIONAL 1345267 SNORD73B small nucleolar RNA, C/D box U73B (pseudogene) 4 4 4 q31.3 149344775 149345049 + 152242559 152242833 + 152023109 152023383 + 9573378;8647443;19446021 114655 ABBA01070104;AC095055;AMYH01014614;NG_000961;X87373;Z83334 RNU73B;U73B rna, u73b small nucleolar pseudogene APPROVED pseudo 30357 INFERRED 1602243 SNORD72 small nucleolar RNA, C/D box 72 5 5 5 p13 40721356 40721435 - 40868515 40868594 - 40832758 40832837 - 11387227;19446021 619564 AB061834;ABBA01024225;AC008810;AK124098;AMYH01015049;NR_002583 2128135 RP_L37_1 HBII-240 snorna 32733 PROVISIONAL 2291784 SNORD75 small nucleolar RNA, C/D box 75 1 1 1 q25.1 146945486 146945545 - 172102640 172102699 - 173836017 173836076 - 6480464 15556860;9819378;19446021 692195 ABBA01027896;AF141346;AL136170;AMYH01001505;NR_003941 U75 snorna 32735 PROVISIONAL 1602378 SNORD74 small nucleolar RNA, C/D box 74 1 1 1 q25.1 146946281 146946352 - 172103435 172103506 - 173836812 173836883 - 6480464 15556860;9819378;19446021 619498 ABBA01027896;AF141346;AJ224026;AL136170;AMYH01001505;NR_002579 U74;Z18 snorna ENSG00000200954 32734 PROVISIONAL 2291783 SNORD76 small nucleolar RNA, C/D box 76 1 1 1 q25.1 146945242 146945322 - 172102396 172102476 - 173835773 173835853 - 15556860;9819378;19446021 692196 ABBA01027896;AF141346;AL136170;AMYH01001505;NR_003942 U76 snorna ENSG00000200016 32736 PROVISIONAL 2291782 SNORD77 small nucleolar RNA, C/D box 77 1 1 1 q25.1 146944918 146944978 - 172102072 172102132 - 173835449 173835509 - 6480464 15556860;9819378;19446021 692197 ABBA01027896;AF141346;AL136170;AMYH01001505;NR_003943 U77 snorna ENSG00000208313 32737 PROVISIONAL 2291781 SNORD78 small nucleolar RNA, C/D box 78 1 1 1 q25.1 146944240 146944293 - 172101394 172101447 - 173834771 173834824 - 6480464 15556860;9819378;19446021 692198 ABBA01027896;AF141346;AL136170;AMYH01001505;NR_003944 U78 snorna ENSG00000208317 32738 PROVISIONAL 1346705 SNORD79 small nucleolar RNA, C/D box 79 1 1 q25.1 146943957 146944037 - 173834488 173834568 - 6480464 15556860;9819378;19446021 26770 ABBA01027896;AF141346;AJ224027;AL136170;AMYH01001505;NR_003939 RNU103;U79;Z22 snorna ENSG00000200729 10100 PROVISIONAL 1353378 SNORD80 small nucleolar RNA, C/D box 80 1 1 1 q25.1 146943440 146943510 - 172100594 172100664 - 173833971 173834041 - 15556860;9819378;19446021 26774 ABBA01027896;AF141346;AJ224022;AL136170;AMYH01001505;NR_003940 RNU100;U80;Z15 snorna ENSG00000201692 10096 PROVISIONAL 1348850 SNORD8 small nucleolar RNA, C/D box 8 14 14 14 q11.2 1730948 1731056 - 20935292 20935400 - 21865452 21865560 - 10490628;19446021 319103 ABBA01061245;AJ243222;AL161747;AMYH01005595;NG_021249;NR_002916 Hs.680078 RNU6C;mgU6-53 snorna 20159 VALIDATED 1352386 SNORD83A small nucleolar RNA, C/D box 83A Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23513332 23513426 - 38041164 38041258 - 39711218 39711312 - 10684968;19446021 116937 ABBA01055560;AJ238852;AL022326;AMYH01012776;NR_000027 1747521;1747523 G65385;G65386 RNU83A;U83A APPROVED snorna 17131 611070 PROVISIONAL 1349705 SNORD83B small nucleolar RNA, C/D box 83B Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008] 22 22 22 q13 23511938 23512030 - 38039770 38039862 - 39709824 39709916 - 6480464 10684968;19446021 116938 ABBA01055560;AJ238852;AL022326;AMYH01012776;NR_000028 RNU83B;U83B APPROVED snorna 17132 611071 PROVISIONAL 1348775 SNORD81 small nucleolar RNA, C/D box 81 1 1 1 q25.1 146942782 146942824 - 172099936 172099978 - 173833313 173833355 - 15556860;9819378;19446021 26769 ABBA01027896;AF141346;AJ224028;AL136170;AMYH01001505;NR_003938 1663269;1791400 PMC109273P2;SHGC-35933 RNU104;U81;Z23 snorna 10101 PROVISIONAL 1352574 SNORD82 small nucleolar RNA, C/D box 82 The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008] 2 2 2 q37.1 226101432 226101506 - 232325079 232325153 - 232325079 232325153 - 6480464 10684968;10524220;2394707;19446021 25826 ABBA01002057;AC017104;AJ010666;AMYH01011558;NR_004398 1734780;1793304 D2S1557E;PMC207647P1 RNU82;U82;Z25 APPROVED snorna 10240 611133 PROVISIONAL 1602533 SNORD84 small nucleolar RNA, C/D box 84 6 6 6 p21.33 33107112 33107189 - 31616857 31616934 - 31508878 31508955 - 10684929;19446021 692199 ABBA01038081;AJ243199;AL662801;AL662847;AMYH01016217;BX001040;BX248516;BX927320;CR753820;CR753864;NR_003065 1786110 SHGC-172533 U84 snorna ENSG00000265236 32743 PROVISIONAL 1602371 SNORD86 small nucleolar RNA, C/D box 86 20 20 p13 2701206 2701291 + 2636743 2636828 + 11594746;19446021 692201 ABBA01053795;AJ311853;AL049712;AMYH01011668;NG_032136;NR_004399 U86 snorna 32745 VALIDATED 1602372 SNORD85 small nucleolar RNA, C/D box 85 1 1 1 p35.2 29696926 29697000 - 31213597 31213671 - 31441010 31441084 - 11387227;19446021 692200 ABBA01023490;AL445235;AMYH01000452;NR_003066 HBII-251 snorna 32744 PROVISIONAL 1602368 SNORD88C small nucleolar RNA, C/D box 88C 19 19 19 q13.33 48356551 48356647 - 55997394 55997490 - 51305582 51305678 - 11387227;19446021 692204 ABBA01068298;AC010325;AMYH01009945;NR_003069 HBII-180C snorna ENSG00000220988 32749 PROVISIONAL 1602370 SNORD88A small nucleolar RNA, C/D box 88A 19 19 19 q13.33 48353657 48353753 - 55994508 55994604 - 51302696 51302792 - 11387227;19446021 692202 ABBA01068298;AC010325;AMYH01009945;NR_003067 HBII-180A snorna ENSG00000221241 32747 PROVISIONAL 1602235 SNORD87 small nucleolar RNA, C/D box 87 Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM, Aug 2008] 8 8 8 q13.1 63828203 63828278 - 67997263 67997338 - 67834709 67834784 - 16226852;12119114;11387227;19446021 641648 ABBA01041882;AC011031;AMYH01018774;NR_002598 1653537;1735750 D8S1363E;RH47443 HBII-276;U87 APPROVED snorna ENSG00000201719;ENSG00000254341 32746 612216 PROVISIONAL 1602369 SNORD88B small nucleolar RNA, C/D box 88B 19 19 19 q13.33 48353243 48353340 - 55994098 55994194 - 51302286 51302382 - 11387227;19446021 692203 ABBA01068298;AC010325;AMYH01009945;NR_003068 HBII-180B snorna ENSG00000221381 32748 PROVISIONAL 1602367 SNORD89 small nucleolar RNA, C/D box 89 2 2 2 q11.2 96093386 96093499 - 101255830 101255943 - 101889398 101889511 - 6480464 11387227;19446021 692205 ABBA01073912;AC013722;AK126261;AMYH01010814;NR_003070 Hs.656503 2126928;2148609 RH45674;RH68824 HBII-289 snorna ENSG00000212283 32750 PROVISIONAL 1602750 SNORD9 small nucleolar RNA, C/D box 9 14 14 14 q11.2 1725804 1725906 - 20930150 20930252 - 21860310 21860412 - 10490628;19446021 692053 ABBA01061245;AL135744;AL161747;AMYH01005595;NG_021249;NR_003029 Hs.675950 5022026 BE589327 mgU6-53B snorna 32705 VALIDATED 1602366 SNORD90 small nucleolar RNA, C/D box 90 9 9 9 q33.2 96290803 96290909 - 124682313 124682419 - 125642492 125642598 - 11387227;19446021 692206 ABBA01043718;AC007066;AMYH01021694;NR_003071 Hs.693253 HBII-295 snorna 32751 PROVISIONAL 1602365 SNORD91A small nucleolar RNA, C/D box 91A 17 17 17 p13.3 2249675 2249766 - 2180323 2180414 - 2233573 2233664 - 11387227;19446021 692207 ABBA01054701;AL450226;AMYH01008012;NR_003072 HBII-296a snorna 32752 PROVISIONAL 1602364 SNORD91B small nucleolar RNA, C/D box 91B 17 17 17 p13.3 2248521 2248606 - 2179169 2179254 - 2232419 2232504 - 11387227;19446021 692208 ABBA01054701;AL450226;AMYH01008012;NR_003073 HBII-296b snorna 32753 PROVISIONAL 1602354 SNORD94 small nucleolar RNA, C/D box 94 2 2 p11.2 86191134 86191270 + 86362993 86363129 + 14602913;19446021 692225 ABBA01075772;AC009309;AMYH01010498;AY349593;NR_004378 Hs.723087 U94 snorna 32756 PROVISIONAL 1602363 SNORD92 small nucleolar RNA, C/D box 92 2 2 2 p23.2 28981211 28981299 + 28990032 28990120 + 29136528 29136616 + 11387227;19446021 692209 ABBA01045243;AC097720;AMYH01010207;NR_003074 2122515;2177194 RH66494;SHGC-56576 HBII-316 snorna 32754 PROVISIONAL 1602237 SNORD96A small nucleolar RNA, C/D box 96A 5 5 5 q35.3 176296671 176296742 - 180601424 180601495 - 180668818 180668889 - 6480464 14602913;19446021 619571 ABBA01010097;AC008443;AMYH01015977;AY349595;NR_002592 U96A snorna 32758 PROVISIONAL 1602362 SNORD93 small nucleolar RNA, C/D box 93 7 7 7 p15.3 22882575 22882648 + 22862757 22862830 + 22896232 22896305 + 11387227;19446021 692210 AACC02000007;ABBA01056697;AC005682;AMYH01017109;CH236948;NR_003075 HBII-336 snorna ENSG00000221740 32755 PROVISIONAL 1602238 SNORD95 small nucleolar RNA, C/D box 95 5 5 5 q35.3 176298167 176298229 - 180602920 180602982 - 180670314 180670376 - 6480464 14602913;19446021 619570 ABBA01010097;AC008443;AMYH01015977;AY349594;NR_002591 U95 snorna 32757 PROVISIONAL 1602353 SNORD96B small nucleolar RNA, C/D box 96B X X q23 109947840 109947911 - 109468217 109468288 - 14602913;19446021 692226 ABBA01043423;AL079334;AMYH01022840;AY349596;NG_016469;NR_004379 U96b snorna 32759 VALIDATED 1602356 SNORD97 small nucleolar RNA, C/D box 97 11 11 p15.3 10944612 10944753 - 10823014 10823155 - 14602913;19446021 692223 ABBA01061154;AC116535;AMYH01003391;AY349597;NR_004403 Hs.723086 1737101;5491705 D11S2865;MARC_8851-8852:992359168:1 U97 snorna 32760 PROVISIONAL 6481418 SNRK-AS1 SNRK antisense RNA 1 3 43388411 43393454 - 100873954 ABBA01024759;AC104184;AMYH01013118;BF195995;NR_046757 Hs.600984 APPROVED miscrna 41269 VALIDATED 1602360 SNORD99 small nucleolar RNA, C/D box 99 1 1 1 p35.3 27301021 27301100 - 28777842 28777921 - 28905255 28905334 - 11387227;19446021 692212 ABBA01035043;AL513497;AMYH01000433;NR_003077 HBII-420 snorna ENSG00000221539 32762 PROVISIONAL 1602361 SNORD98 small nucleolar RNA, C/D box 98 10 10 10 q21.3 63790871 63790937 + 70184935 70185001 + 70514929 70514995 + 11387227;19446021 692211 ABBA01019588;AL513534;AMYH01002804;NR_003076 HBII-419 snorna 32761 PROVISIONAL 1314155 SNPH syntaphilin Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. [provided by RefSeq, Jul 2008] 20 20 20 p13 1343292 1386301 + 1194960 1237971 + 1246960 1289971 + 1580863;6480464 10707983;12896979;12477932;11780052;9205841;20877624;17207965 9751 O15079 AB002372;ABBA01053768;ABBA01053769;AF187733;AL136531;AMYH01011663;BC035788;CH471133;NM_014723 AAF29901;AAH35788;ADQ31782;BAA20829;EAX10641;EAX10642;EAX10643;EAX10644;EAX10645;NP_055538;O15079 Hs.323833 2147631 RH64100 KIAA0374;MGC46096;bA314N13.5 OTTHUMP00000029965;OTTHUMP00000070985;syntaphilin APPROVED protein-coding ENSG00000101298 15931 16081 604942 REVIEWED 1602490 SNRNP35 small nuclear ribonucleoprotein 35kDa (U11/U12) The protein encoded by this gene is a homolog of U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal is rich in Arg/Asp and Arg/Glu dipeptides; a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. This gene is differentially expressed in a variety of human tissues. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Nov 2008] 12 12 12 q24.31 123538515 123546844 + 122508604 122516894 + 123942651 123950941 + 6480464 18559850;15146077;12477932;10520751;8889548;19565553;17207965;21586597;21832049;21900206 11066 Q16560 ABBA01060408;ABBA01060409;AC145423;AK290127;AMYH01004840;BC009622;BC028485;BC047678;BC054034;BC093671;BC111955;BK005197;BM714052;CH471054;NM_022717;NM_180699;U44798;U44799 AAA86654;AAA86655;AAH09622;AAH47678;AAH54034;AAH93671;AAI11956;ADQ31915;BAF82816;DAA05495;EAW98412;EAW98413;EAW98414;NP_073208;NP_851030;Q16560 Hs.632738 2124787 RH18067 HM-1;MGC138160;U1SNRNPBP OTTHUMP00000236244;OTTHUMP00000236245;U1 snRNP binding protein homolog;U1 snRNP-binding protein homolog;U1-snRNP binding protein homolog;U11/U12 small nuclear ribonucleoprotein 35 kDa protein;U11/U12 snRNP 35 kDa protein;U11/U12 snRNP 35K;U11/U12-35K;protein HM-1 APPROVED protein-coding 30852 15595 REVIEWED 1319128 SNRNP48 small nuclear ribonucleoprotein 48kDa (U11/U12) 6 6 6 p24.3 8820198 8841965 + 7535431 7557199 + 7590432 7612200 + 6480464 15146077;19217400;18347052;14702039;14574404;12477932;18029348;21906983;19322201;23251661 154007 Q6IEG0 ABBA01022045;ABBA01022046;AJ420586;AK027220;AK056796;AK292409;AL031058;AL390026;AL832462;AMYH01016064;BC001558;BC054008;BC062458;BC114630;BC114631;BK005199;CH471087;NM_152551 AAI14631;AAI14632;BAB71287;BAF85098;CAI20238;DAA05497;EAW55216;EAW55217;EAW55218;NP_689764;Q6IEG0 Hs.13366 2140854;2154047;5017227 G38154;SHGC-36217;WI-12266 C6orf151;FLJ32234;MGC138904;MGC138905;dJ336K20B.1;dJ512B11.2 OTTHUMP00000016002;U11/U12 small nuclear ribonucleoprotein 48 kDa protein;U11/U12 snRNP 48 kDa protein;U11/U12 snRNP 48K;U11/U12-48K protein-coding ENSG00000168566 21368 12858 VALIDATED 1605404 SNRNP27 small nuclear ribonucleoprotein 27kDa (U4/U6.U5) This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 2 2 2 p13.3 69972266 69983527 + 69974594 69985853 + 70121075 70132368 + 6480464;6907045 7931148;17081983;15815621;15489334;12477932;9085842;2479028;17643375;19615732;17207965;16723661;20360068 11017 A8K513;B8ZZ98;H0YBW5;Q8WVK2 ABBA01075516;AC019206;AK291128;AK312041;AMYH01010423;AW452063;BC017890;BU171817;CH471053;NM_006857;NR_037862;X76302 AAH17890;AAY14866;ADQ32225;BAF83817;BAG34978;CAA53949;EAW99837;EAW99840;NP_006848;Q8WVK2 Hs.54649 1659821;1855410;2148276 RH67798;RH70906;SHGC-12014 27K;RY1 27K;OTTHUMP00000202208;OTTHUMP00000202209;OTTHUMP00000202210;U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein;U4/U6.U5 snRNP 27 kDa protein;U4/U6.U5 tri-snRNP-associated 27 kDa protein;U4/U6.U5 tri-snRNP-associated protein 3;U4/U6.U5-27K;nucleic acid binding protein RY 1;nucleic acid-binding protein RY-1;putative nucleic acid binding protein RY-1 APPROVED protein-coding 30240 15288 REVIEWED 1322103 SNRNP25 small nuclear ribonucleoprotein 25kDa (U11/U12) Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010] 16 16 16 p13.3 305723 309564 + 43017 47444 + 103829 107669 + 6480464 15146077;16728641;15616553;15489334;14702039;12477932;18559850;23314748 79622 B8ZZ06;H7BYR9;Q4TT61;Q9BV90 ABBA01030394;AE006462;AI820975;AK026593;AMYH01006981;BC001381;BC009179;BK005201;CH471112;DQ431198;NG_017004;NM_024571;Z69719;Z84714 AAH01381;AAH09179;AAK61211;ABD95904;ABM83055;ABM83263;ABM86248;BAB15505;CAI95606;CAX15111;DAA05499;EAW85877;EAW85878;NP_078847;Q9BV90 Hs.15277 1798824;1800346;1801706;1810120;2046732;2046734;2046736;2046738;2046740;2046742;2046744;2046746;2046748;2046750;2046752;2046754;2046756;2046758;2046760;2046762;2046764;2046766;2046768;2046770;2046772;2046774;2046776;2046778;2104336;2104338;2104340;2178148 D16S3332;ECD00252;ECD01032;ECD01733;ECD06052;REN94495;REN94496;REN94497;REN94498;REN94499;REN94500;REN94501;REN94502;REN94503;REN94504;REN94505;REN94506;REN94507;REN94508;REN94509;REN94510;REN94511;REN94512;REN94513;REN94514;REN94515;REN94516;REN94517;REN94518;stSG608830;stSG608831;stSG608832 C16orf33;FLJ22940 OTTHUMP00000067143;OTTHUMP00000197536;U11/U12 small nuclear ribonucleoprotein 25 kDa protein;U11/U12 snRNP 25 kDa protein;U11/U12 snRNP 25K;minus-99 protein APPROVED protein-coding 14161 12673 REVIEWED 1606327 SNRNP40 small nuclear ribonucleoprotein 40kDa (U5) This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008] 1 1 1 p35.2 29988910 30026143 - 31505002 31542231 - 31732415 31769644 - 6480464;6907045 11991638;9774689;17353931;12226669;17041588;16723661;16710414;16429158;15506927;15489334;12477932;10788320;9731529;16169070;11971955;2479028;19615732;18029348;16159877;18212063;22990118;21832049;22939629;21139048;21890473;20360068;19322201;21628590;21963094;23000965;23084401;23455491;22174317 9410 A0MNP2;B4DQJ1;Q96DI7;Q9NSS8 ABBA01023469;ABBA01023470;AC114495;AF090988;AK074516;AK123103;AK298823;AK313800;AL157420;AL451070;AMYH01000456;BC001494;BM150898;CH471059;CQ782448;CR736901;EF011621;NM_004814 AAC69625;AAH01494;ABK41111;ABM84553;ABM86368;BAG36536;BAG51963;BAG60953;CAB75650;CAF85733;EAX07626;EAX07627;NP_004805;Q96DI7 Hs.33962 1692710;1698920;1781638;2155568;5091008 AL034116;D1S3561;RH103029;SHGC-154524;SHGC-74523 40K;FLJ41108;HPRP8BP;MGC1910;PRP8BP;PRPF8BP;RP11-490K7.3;SPF38;WDR57 38 kDa-splicing factor;OTTHUMP00000003888;Prp8-binding protein;U5 small nuclear ribonucleoprotein 40 kDa protein;U5 snRNP 40 kDa protein;U5 snRNP-specific 40 kDa protein (hPrp8-binding);U5-40K;U5-40kD protein;WD repeat domain 57 (U5 snRNP specific);WD repeat-containing protein 57 APPROVED protein-coding ENSG00000060688 30857 08481 607797 REVIEWED 1351534 SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010] 2 2 q11.2 96303801 96334988 - 96940074 96971307 - 1580863;6480464;6907045;7240710 9539711;9774689;17353931;8670905;12226669;17081983;16730941;16723661;16565220;15635413;15489334;15324660;15302935;18951082;11971955;21145461;15175327;14702039;12477932;12421765;12403470;12168954;11991638;11790298;11331595;9872452;8600454;15146077;20936779;18029348;16344560;17643375;19615732;19710410;19878916;16612614;19454010;16055720;16159877;17567985;22863883;22990118;21618346;23029027;17314511;21252943;17332742;19471022;21139048;21693764;21890473;21906983;15848144;16051665;18457437;18624398;18781797;19596686;20360068;21081666;21903422;21987572;22108332;22118674;22178446;22446626;22586326;22623531;16009940;20301590;22939629;23045696;19875381;23084401;23500468;19738201;21963094;22365833;22569250;22623428;23000965;23455922;23704370;22174317;22505724 23020 B4E0P5;C9JAQ9;O75643 AB018331;ABBA01036592;ABBA01036593;AC021188;AF085356;AF119874;AJ844618;AK021418;AK021583;AK023840;AK024391;AK026662;AK090671;AK303465;AK303663;AL831994;AMYH01010722;AW190145;AY572488;BC001417;BC007577;BC065924;BC112891;BC131784;BP873066;CH471207;DA109508;DB067751;NG_016973;NM_014014;Z70200 AAD40191;AAF69628;AAH01417;AAH07577;AAH65924;AAI12892;AAI31785;AAS78571;BAA34508;BAB14698;BAB14906;BAC03499;BAG64507;BAG64662;CAA94089;CAH59741;EAW71372;EAW71373;NP_054733;O75643 Hs.246112 1658173;1665556;1682177;2144422;5014051;5015619;5015961;5020948 D11S3114;D15S1477;D2S2893;D8S2278;G19984;G35510;RH10762;SHGC-33807 ASCC3L1;BRR2;FLJ11521;HELIC2;RP33;U5-200KD BRR2 homolog;OTTHUMP00000161012;U5 small nuclear ribonucleoprotein 200 kDa helicase;U5 snRNP-specific 200 kDa protein;activating signal cointegrator 1 complex subunit 3-like 1;retinitis pigmentosa 33 (autosomal dominant) APPROVED protein-coding ENSG00000144028 30859 03391 601664;610359 REVIEWED 1345061 SNRPBL1 small nuclear ribonucleoprotein polypeptide B-like 1 6630 11156 4109592 SNRPBP1 small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1 7 7 q21.11 74707519 74707800 - 80006870 80007151 - 9847074 100499258 AACC02000015;ABBA01058049;AC004862;AMYH01017644;CH236949;NG_023439 pseudo 38665 INFERRED 735399 SNRK SNF related kinase SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009] 3 3 3 p22.1 43265488 43330125 + 43303008 43367639 + 43328004 43392635 + 6480464 12234663;17353931;16344560;15733851;15489334;15342556;14702039;12477932;12168954;12087103;10930554;10878360;8654423;7788527;16306228;22874833;23251661 54861 E7EUC4;Q9NRH2 ABBA01024759;AC104184;AC104434;AK000231;AK025449;AK026013;AK291360;AK295187;AK314376;AMYH01013117;AMYH01013118;BC071567;BP281284;CH471055;CR749621;D43636;DA769463;DB080037;NM_001100594;NM_017719;U57452 AAB02237;AAH71567;BAA07744;BAA91023;BAF84049;BAG37003;BAG58191;CAH18415;EAW64693;EAW64694;NP_001094064;NP_060189;Q9NRH2 Hs.476052 1735322;1774477;1777652;2112628;2166869;2219700;5022200;5037552 D3S2951E;D3S3943;D3S4376;D8S2279;L18426;SHGC-76870;SNRK__5466;WIAF-2554 DKFZp779A1866;FLJ20224;HSNFRK;KIAA0096 OTTHUMP00000209954;OTTHUMP00000209955;OTTHUMP00000209956;OTTHUMP00000209957;SNF-1 related kinase;SNF-related serine/threonine-protein kinase;SNF1-related kinase APPROVED protein-coding ENSG00000163788 30598 18082 612760 VALIDATED 733493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 p13 2390281 2399499 - 2442281 2451499 - 1580863;6480464;6907045 21145461;22912744;8076607;11714716;11748230;2531083;15130578;10531003;15782174;15494309;15231747;12975319;12560496;12477932;12403470;12095920;12065586;11991638;11780068;11780052;11756452;11747828;11720283;11713266;11641277;11549288;11522829;11343899;11226169;11149922;10725331;10601333;10556313;10025403;9724750;9417867;9323129;8510173;7683587;2524838;2522439;2522186;2174118;1825643;1694885;1693924;1376292;10556282;12234937;11604498;16169070;17353931;15939020;9010216;17207965;11574479;12226669;15105431;15848170;16000308;16120600;17643375;19997741;20085707;20418484;15146077;16087681;16159877;22863883;22990118;22939629;17709427;19928837;17332742;12456665;17955473;18984161;20360068;21139048;21890473;21906983;19471022;21628590;22505724 6628 A8MT02;P14678;Q66K91 ABBA01053790;AF134825;AK301034;AK301206;AK307093;AK312620;AL049650;AMYH01011667;AY742712;BC003530;BC080516;BM559678;CH471133;CQ834772;CR456969;J04564;M34081;M34082;NM_003091;NM_198216;X15893;X17567;X17568;X52979 AAA36578;AAA36579;AAA60151;AAD54488;AAD54489;AAH80516;AAU89981;ADQ32029;BAG35506;BAG62648;BAG62782;CAA33902;CAA37170;CAA37171;CAB57867;CAB57868;CAG33250;CAH05601;EAX10596;EAX10597;EAX10598;EAX10599;NP_003082;NP_937859;P14678 Hs.83753 1717427;2107641;2124345;2156892;5491649 D20S1032;MARC_5069-5070:996690109:1;RH122204;SNRPB_2794.2;WI-18905 COD;SNRPB1;Sm-B/B';SmB/B';SmB/SmB';snRNP-B B polypeptide of Sm protein;OTTHUMP00000030012;OTTHUMP00000030013;Sm protein B/B';sm-B/Sm-B';small nuclear ribonucleoprotein polypeptide B;small nuclear ribonucleoprotein polypeptides B and B';small nuclear ribonucleoprotein-associated proteins B and B' APPROVED protein-coding ENSG00000125835 11153 01655 182282 REVIEWED 1316600 SNRPA small nuclear ribonucleoprotein polypeptide A The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010] 19 19 q13.1 45948619 45963134 + 41256759 41271297 + 1580863;6480464;6907045 21145461;21319273;9848648;17353931;12226669;9731529;17942741;17507659;16189514;15890361;15635413;15489334;15231748;12477932;11101529;10742179;10688667;10648562;9312034;9265619;8609632;8602269;8070414;7984237;2962859;2147232;1833186;1831431;1826055;1701111;11420046;9783582;19561594;15146197;1696729;16055720;22863883;21298455;21419778;20508642;22939629;19373254;17955473;18457437;21139048;21384338;21566083;21890473;21906983;17332742;17361185;21628590 6626 M0QXK2;M0QZG7;M0R0G9;M0R221;M0R268;M0R2B8;P09012 ABBA01040786;ABBA01040787;ABBA01040788;AC020945;AK293140;AK313182;AMYH01009807;AMYH01009808;BC000405;BC008290;BQ002918;CH471126;CN286572;M60784;NM_004596;X06347 AAA61245;AAH00405;AAH08290;BAG35999;BAG56688;CAA29653;EAW56995;EAW56996;NP_004587;P09012 Hs.466775 1653051;1681540;1720303;1789038;2121672;2160208 G65653;RH123900;RH67887;RH77942;RH80281;STS-N55164 Mud1;U1-A;U1A U1 small nuclear RNP-specific A;U1 small nuclear ribonucleoprotein A;U1 snRNP A;U1 snRNP-specific protein A APPROVED protein-coding ENSG00000077312 11151 01658 182285 REVIEWED 1343555 SNRPD2P1 small nuclear ribonucleoprotein D2 pseudogene 1 10 10 10 q23.31 85484822 85485328 + 91728454 91728807 + 91738419 91738925 + 17643375;15324660;19167051 119358 ABBA01021941;AL390206;AMYH01002936;CH471066;NG_023172 EAW50123 1685269;1687948;1788724 RH126590;RH69717;RH79659 SNRPD2P;bA478K7.1 hypothetical protein LOC119358 APPROVED pseudo 31459 INFERRED 1321959 SNRPA1 small nuclear ribonucleoprotein polypeptide A' 15 15 q26.3 99639238 99652983 - 101821715 101835460 - 1580863;6480464;6907045 21145461;17353931;2928112;12226669;9731529;16964243;15635413;15489334;14702039;12477932;11991638;11790298;11780068;10811961;10339552;9716128;9531537;8331728;8125298;2148205;11101529;12234937;17643375;19615732;16159877;22863883;23184937;22939629;16196087;19928837;17332742;15848144;20360068;21139048;21693764;21890473;21906983;21963094;22178446;19471022 6627 H0YKK0;H0YLR3;H0YMA0;P09661 ABBA01020524;AC023024;AJ130971;AJ130972;AK090986;AK223070;AK223110;AK290078;AK312200;AL538391;AMYH01006975;BC022816;BC067846;BC071717;CH471101;NM_003090;X13482 AAH22816;AAH67846;AAH71717;ABM83764;ABM87083;BAD96790;BAD96830;BAF82767;BAG35133;CAA10271;CAA10272;CAA31838;EAX02296;EAX02297;EAX02298;EAX02299;EAX02300;NP_003081;P09661 Hs.528763 1704768;1724003;2113646;2150784;5022200;5037552;5125104 D15S910;D8S2279;L18426;RH118954;SHGC-79848;STS-AA011337;UniSTS:479275 Lea1 OTTHUMP00000194836;U2 small nuclear ribonucleoprotein A';U2 small nuclear ribonucleoprotein polypeptide A';U2 snRNP A' protein-coding ENSG00000131876 11152 04629 603521 VALIDATED 1316126 SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 19 19 q13.3 54280277 54303682 + 49588465 49611870 + 1580863;6480464;6907045 9281376;8816452;2467746;9447963;14561889;12226669;9531537;18559850;18523312;18202700;17622584;17081983;16964243;15489334;15231748;15146197;15144186;14765198;14702039;14688384;12560496;12548559;12477932;12456665;12417631;12218166;12193588;12115232;11780068;11748230;11741604;11514619;11500380;11448987;10725331;10339552;9826776;9799243;9731529;9685421;22379092;22490866;22586326;9016565;8889548;8746626;8332490;8261509;7516470;3028775;2477447;2447561;2147422;1833625;9472028;17353931;21536904;15862967;20205790;21145461;20500824;20519584;19232124;19419839;19784376;11850407;16055720;21832049;22939629;22990118;20811636;21139048;21693764;21890473;21906983;17332742;17043677;19928837;21348812;21942715;21628590;19738201;21642987;21963094;21988832;22113938;22365833;22454191;22623428;23084401;23151878;23246001;23398456;12549820;22174317;22505724 6625 M0QX04;M0QYR1;Q99377 ABBA01032941;ABBA01032942;AC008687;AK027127;AK056808;AK096783;AK293120;AL117399;AL117507;AL832819;AMYH01009909;BC000342;BC001315;BE397125;BM969999;CH471177;CN292681;M22636;M57935;M57939;NM_003089;X06811;X06812;X06813;X06814;X06815;X06816;X06817;X06818;X06819;X07401;X07402;X07403;X84841 AAA03001;AAA36571;AAA36572;AAA36573;AAH00342;AAH01315;BAF85809;BAG51812;BAG53365;CAA29960;CAA29961;CAA29962;CAA29963;CAA29964;CAA29965;CAA29966;CAA29967;CAA30303;CAA30304;CAA30305;CAA59278;CAB55900;CAB55969;EAW52445;EAW52446;EAW52447;EAW52448;EAW52449;EAW52450;EAW52451;EAW52452;EAW52453;NP_003080;P08621 Hs.467097 1693694;1766133;1797180;2147190;2153905 RH11471;SHGC-149512;SHGC-57460;SHGC-58615;SNRP70 RNPU1Z;RPU1;SNRP70;Snp1;U1-70K;U170K;U1AP;U1RNP U1 small nuclear ribonucleoprotein 70 kDa;U1 snRNP 70 kDa protein-coding ENSG00000104852 11150 01617 180740 VALIDATED 1314465 SNRPC small nuclear ribonucleoprotein polypeptide C This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009] 6 6 p21.31 34833293 34849549 + 34724871 34741634 + 1580863;6480464;6907045 10725331;2961811;1826349;8076607;12486009;8532530;8798632;15312772;8972845;10068039;15525645;15635413;12477932;11748230;10827180;9826776;9031639;8125298;2971157;21145461;16159877;22939629;22990118;21139048;21890473;21906983;17332742;22174317;22505724 6631 P09234;Q5TAL2;Q5TAL4 ABBA01038202;ABBA01038203;ABBA01038204;AI356808;AK223098;AK311955;AL139100;AMYH01016261;BC121082;BC121083;BU153661;BU508721;CD109745;CH471081;CS185544;M18465;NM_003093;NR_029472;X12517 AAA36618;AAI21083;AAI21084;BAD96818;BAG34895;CAA31037;CAJ42725;EAX03795;EAX03796;EAX03797;NP_003084;P09234 Hs.1063 2161258;5115496 G06174;STS-X12517 FLJ20302;U1-C;U1C;Yhc1 OTTHUMP00000016238;OTTHUMP00000016239;OTTHUMP00000016240;U1 small nuclear RNP specific C;U1 small nuclear ribonucleoprotein C;U1 snRNP C;U1 snRNP protein C APPROVED protein-coding 11157 04630 603522 REVIEWED 2305219 SNRPEP1 small nuclear ribonucleoprotein polypeptide E pseudogene 1 5 5 5 q33.3 155786188 155786468 + 159686278 159686558 + 159753700 159753980 + 1839226 100129454 ABBA01044221;AC112191;AMYH01015760;M65126;NG_008773 pseudo 35244 INFERRED 6481015 SNRPEP10 small nuclear ribonucleoprotein polypeptide E pseudogene 10 1 223831814 223832085 - 100874424 ABBA01008159;AC099065;AMYH01001759;NG_032560 pseudo 43575 INFERRED 1347491 SNRPEP2 small nuclear ribonucleoprotein polypeptide E pseudogene 2 9 9 9 p24.1 6679338 6679797 - 6738553 6739012 - 6748553 6749012 - 17643375 414153 ABBA01065382;AL354707;AMYH01019211;NG_006656 SNRPEL1;bA390F4.4 APPROVED pseudo 20733 INFERRED 5552924 SNRPEP3 small nuclear ribonucleoprotein polypeptide E pseudogene 3 16 16 p12.3 20157744 20158070 - 20250243 20250569 - 1839226 100129329 ABBA01028278;AC092132;AMYH01007328;M65125;NG_008888 pseudo 43445 INFERRED 5553007 SNRPEP4 small nuclear ribonucleoprotein polypeptide E pseudogene 4 19 19 p13.3 5527517 5527962 - 5576493 5576962 - 100130109 ABBA01056003;AC011533;AMYH01009363;CH471139;NG_023307 EAW69166 1851974 D1S3358 pseudo 43446 VALIDATED 6481003 SNRPEP5 small nuclear ribonucleoprotein polypeptide E pseudogene 5 2 8743212 8743486 + 100874413 ABBA01015563;AC011747;AMYH01010090;NG_032554 pseudo 43447 INFERRED 6481006 SNRPEP6 small nuclear ribonucleoprotein polypeptide E pseudogene 6 6 148888517 148888790 - 100874414 ABBA01025696;AL033378;AMYH01016731;NG_032556 pseudo 43571 INFERRED 6481004 SNRPEP7 small nuclear ribonucleoprotein polypeptide E pseudogene 7 1 27537755 27537972 + 100874415 ABBA01034960;AL590640;AMYH01000422;NG_032557 pseudo 43572 INFERRED 1320950 SNRPB2 small nuclear ribonucleoprotein polypeptide B The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 p12.1 16658629 16670037 + 16710609 16722417 + 1580863;6480464;6907045 16341674;16344560;11780068;17353931;2951739;12226669;9731529;15592455;15489334;12477932;12084575;11991638;21145461;11780052;11149922;10556282;9716128;9576861;9323129;9016565;7593271;2139037;12234937;16159877;22863883;22939629;15840729;18457437;20360068;21139048;21890473;21906983;17332742;22505724 6629 P08579;Q86YK2 AA953215;AB451234;AB451359;ABBA01054016;AI741327;AK313004;AL034428;AMYH01011736;BC008311;BC018022;BC022311;BC036737;BF243328;BM772256;CH471133;DA088017;M15841;NM_003092;NM_198220 AAA36796;AAH08311;AAH18022;AAH36737;ABM81790;ABM84945;BAG35840;BAG70048;BAG70173;EAX10284;EAX10285;EAX10286;NP_003083;NP_937863;P08579 Hs.280378 1663501;1683479;1698858;2159078;2218044 D20S1100;RH102994;RH45368;RH69644;SNRPB2_2657 MGC24807;MGC45309;Msl1 OTTHUMP00000030324;OTTHUMP00000030325;U2 small nuclear ribonucleoprotein B'';U2 snRNP B'';small nuclear ribonucleoprotein polypeptide B2 APPROVED protein-coding ENSG00000125870 11155 04628 603520 REVIEWED 6481020 SNRPEP8 small nuclear ribonucleoprotein polypeptide E pseudogene 8 10 54798045 54798300 + 100874423 ABBA01019380;AC069077;AMYH01002744;NG_032558 pseudo 43573 INFERRED 6481010 SNRPEP9 small nuclear ribonucleoprotein polypeptide E pseudogene 9 X 24531524 24531799 + 100874416 ABBA01072328;AC004656;AMYH01022164;NG_032559 pseudo 43574 INFERRED 1342723 SNRPFP1 small nuclear ribonucleoprotein polypeptide F pseudogene 1 20 20 20 q13.13 45050731 45051098 - 47779435 47779889 - 48346127 48346494 - 170550 ABBA01052751;AL162615;AMYH01011968;NG_001056 2110525 MARC_39572-39407:1078175609:4 dJ1041C10.2 pseudo 16551 INFERRED 6481001 SNRPFP2 small nuclear ribonucleoprotein polypeptide F pseudogene 2 1 26213851 26214093 + 100874411 ABBA01034887;AL033528;AMYH01000394;NG_032338 pseudo 39665 INFERRED 6481013 SNRPFP3 small nuclear ribonucleoprotein polypeptide F pseudogene 3 13 69675964 69676188 - 100874422 ABBA01050300;AL356264;AMYH01005192;NG_032339 pseudo 39666 INFERRED 6481005 SNRPFP4 small nuclear ribonucleoprotein polypeptide F pseudogene 4 3 48202667 48202904 + 100874412 ABBA01024656;AC124916;AMYH01013148;NG_032340 pseudo 39667 INFERRED 3302339 SNRPD2P2 small nuclear ribonucleoprotein D2 pseudogene 2 1 1 1 q42.2 204876347 204877110 - 229678317 229678484 - 231611508 231612271 - 12477932 645339 Q4G1D0 ABBA01033039;AL445524;AMYH01001819;BC014600;NR_033826 AAH14600 Hs.382049 pseudo 38598 VALIDATED 1345744 SNRPGP1 small nuclear ribonucleoprotein polypeptide G pseudogene 1 14 14 14 q22.1 30905514 30905905 - 50108147 50108734 - 51038493 51038884 - 326272 ABBA01018140;AL118556;AMYH01005723;NG_002533;NG_009028 SNRPGP APPROVED pseudo 20033 INFERRED 4889675 SNRPGP10 small nuclear ribonucleoprotein polypeptide G pseudogene 10 1 1 1 q32.1 178455550 178455774 + 203586972 203587369 + 205320349 205320756 + 100130289 ABBA01027418;AC098936;AMYH01001670;NG_028930 pseudo 39329 INFERRED 6481014 SNRPGP11 small nuclear ribonucleoprotein polypeptide G pseudogene 11 13 52070156 52070387 - 100874426 ABBA01051049;AL354820;AMYH01005116;NG_032254 pseudo 39330 INFERRED 1314912 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. [provided by RefSeq, Jul 2008] 18 18 q11.2 17446258 17464206 + 19192260 19210208 + 6480464;6907045 15231747;12234937;3260384;11714716;1701240;15130578;7527560;10531003;16247014;15489334;15146077;14559993;12975319;12477932;11991638;11780068;11756452;11748230;11747828;11713266;11522829;11389857;11226169;11135666;11101529;10942426;10747894;10747849;10725331;10601333;10025403;9417867;9323129;9168134;2528429;10556282;14524621;10851237;17620599;22318606;22446626;21145461;12226669;16087681;16159877;18984161;21182205;22863883;22939629;19471022;21139048;21907836;16051665;16196087;19928837;20360068;17332742;15492215;19738201;21642987;22365833;22623428;23084401;23151878;23184937;23358685;23398456 6632 J3QLI9;J3QLR7;P62314 AB451227;AB451350;ABBA01022680;ABBA01022681;ABBA01022682;ABBA01022683;AC106037;AJ577268;AMYH01008876;BC001721;BC072427;CH471088;CR542239;J03798;L36186;L36187;L36188;NM_006938 AAA36620;AAA85339;AAH01721;AAH72427;BAG70041;BAG70164;CAE11897;CAG47035;EAX01130;NP_008869;P62314 Hs.464734 1745973;1854801 RH124565;STS-J03798 HsT2456;SMD1;SNRPD;Sm-D1 Sm-D autoantigen;small nuclear ribonucleoprotein D1 polypeptide 16kDa pseudogene;small nuclear ribonucleoprotein Sm D1;snRNP core protein D1 APPROVED protein-coding ENSG00000167088 11158 03040 601063 REVIEWED 6480908 SNRPGP12 small nuclear ribonucleoprotein polypeptide G pseudogene 12 10 111898972 111899184 - 100874427 ABBA01063035;AL590628;AMYH01003060;NG_032255 pseudo 39331 INFERRED 6480909 SNRPGP13 small nuclear ribonucleoprotein polypeptide G pseudogene 13 21 39874369 39874545 + 100874428 ABBA01011095;AMYH01012239;AP001037;NG_032256 pseudo 39332 INFERRED 6480904 SNRPGP14 small nuclear ribonucleoprotein polypeptide G pseudogene 14 13 50063106 50063500 + 100874434 ABBA01051016;AL139321;NG_032395 pseudo 42039 INFERRED 6480996 SNRPGP3 small nuclear ribonucleoprotein polypeptide G pseudogene 3 7 129117716 129117942 + 100874407 AACC02000035;ABBA01057635;AC009244;AMYH01017930;CH236950;NG_032250 pseudo 39322 INFERRED 4889672 SNRPGP4 small nuclear ribonucleoprotein polypeptide G pseudogene 4 17 17 17 q24.3 63886425 63886656 + 64826469 64826700 + 67314831 67315231 + 100130368 ABBA01028947;AC115085;AMYH01008597;NG_028970 pseudo 39323 INFERRED 1350313 SNRPGP2 small nuclear ribonucleoprotein polypeptide G pseudogene 2 18 18 18 q21.2 48789053 48789283 - 50187113 50187541 - 51933254 51933484 - 100130003 ABBA01018716;AC090897;AMYH01009013;NG_027990 HsT2742 pseudo 30999 INFERRED 6481009 SNRPGP5 small nuclear ribonucleoprotein polypeptide G pseudogene 5 10 13146574 13146793 - 100874418 ABBA01034633;AL355355;AMYH01002040;NG_032251 pseudo 39324 INFERRED 5687903 SNRPGP6 small nuclear ribonucleoprotein polypeptide G pseudogene 6 10 q25.3 118168772 118169122 + 100861574 ABBA01062959;AC011328;AMYH01003095;NG_032066 pseudo 39325 INFERRED 6480999 SNRPGP7 small nuclear ribonucleoprotein polypeptide G pseudogene 7 2 28683123 28683228 - 100874408 ABBA01045233;AC104695;AMYH01010204;NG_032252 pseudo 39326 INFERRED 6481002 SNRPGP8 small nuclear ribonucleoprotein polypeptide G pseudogene 8 2 228643226 228643451 - 100874409 ABBA01050173;AC093762;AMYH01011543;NG_032253 pseudo 39327 INFERRED 4889753 SNRPGP9 small nuclear ribonucleoprotein polypeptide G pseudogene 9 2 2 q13 104177130 104177357 + 109867790 109868295 + 100506574 ABBA01000773;AC010906;AMYH01010858;NG_028932 small nuclear ribonucleoprotein G-like;small nuclear ribonucleoprotein polypeptide G pseudogene 9 pseudo 39328 INFERRED 1312873 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 19 19 q13.2 50882558 50887282 - 46190712 46195443 - 6480464;6907045 11714716;11748230;12065586;1701240;15130578;7527560;10531003;16344560;16169070;15489334;15231747;15146077;15057824;14667819;12975319;12577067;12477932;11991638;11780068;11756452;11226169;11135666;11101529;10942426;10725331;10601333;10025403;9417867;9323129;3260384;10556282;12234937;11713266;15939020;15782160;21145461;21319273;16712791;12226669;15848170;17643375;16087681;16159877;22863883;22939629;17332742;16196087;18457437;18984161;19471022;19531499;19928837;20360068;21139048;21693764;21890473;21906983;17620599;22446626;22589738;21628590;23084401;23184937 6633 K7EJB5;K7ERG4;P62316 ABBA01040942;AC007191;AJ707552;AK291912;AMYH01009855;BC000486;BC001930;BG528418;BU532756;CB136390;CH471126;DA325073;NM_004597;NM_177542;U15008 AAC13776;AAD22673;AAH00486;AAH01930;ABM82172;ABM85358;BAF84601;EAW57373;EAW57374;NP_004588;NP_808210;P62316 Hs.515472 1685269;1687948 RH69717;RH79659 SMD2;SNRPD1;Sm-D2 small nuclear ribonucleoprotein Sm D2;snRNP core protein D2 APPROVED protein-coding ENSG00000125743 11159 03038 601061 REVIEWED 1313167 SNRPE small nuclear ribonucleoprotein polypeptide E 1 1 q32 202097363 202106903 + 203830740 203840280 + 6480464;6907045 11714716;11748230;15130578;2974536;10531003;19483722;19404844;19378335;18567582;18434602;18208561;18045987;16960555;15489334;15231747;15146077;14667819;12477932;12065586;12022225;11991638;11756452;11226169;10725331;10601333;10025403;9417867;9323129;9020971;8098025;2974540;2972723;2522439;2440864;2143747;1835977;1688550;9154803;10556282;12234937;11969417;11713266;15939020;21145461;21319273;22506009;22826122;20807807;20460314;11574479;12226669;15848170;19917255;16159877;22863883;22939629;22510884;19471022;17332742;15161933;18781797;18984161;20360068;20972266;21139048;21890473;21906983;22178446;19738201;20639865;21642987;21963094;22365833;23000965;23151878;23246001;23358685;23246290;23190890;16322212;22053931;22174317;22505724 6635 A6NHK2;P62304 ABBA01027466;AC114402;AC118554;AK307255;AK312130;AMYH01001658;BC002639;BC072433;BC090951;CH471067;M15919;M21258;M37716;NM_003094;X12466 AAA36621;AAA90926;AAB59365;AAH02639;AAH90951;BAG35066;CAA31007;EAW91494;EAW91495;NP_003085;P62304 Hs.334612;Hs.654418 1791247;1851974 Braf;D1S3358 B-raf;HYPT11;SME;Sm-E OTTHUMP00000034219;sm protein E;small nuclear ribonucleoprotein E;snRNP-E protein-coding 11161 00548 128260;615059 PROVISIONAL 1345342 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q11.23 23281618 23298509 + 24951618 24968509 + 6480464;6907045 12975319;17709427;1701240;15130578;18029348;10531003;7527560;15939020;15782174;15642139;15489334;15461802;15231747;15146077;14559993;12477932;12065586;11991638;11790298;11780068;11756452;11748230;11747828;11714716;11713266;11389857;11226169;11101529;10747894;10725331;10601333;10025403;9417867;9323129;10556282;12234937;10851237;22446626;21145461;11574479;12226669;15848170;17643375;20085707;16159877;19520849;19759913;22939629;22990118;22863883;18984161;16196087;19471022;18781797;20360068;21139048;21906983;17332742;19322201;15146197;15302587;15342556;15369763;15642993;16236255;19738201;21516107;21642987;21874759;21963094;21988832;22365833;22623428;23151878;23246001;23398456;23438482;23455922;23463506;23084401;23184937;21853274;22505724 6634 B4DJP7;H3BT13;P62318 AB451249;AB451373;ABBA01055141;AK296173;AMYH01012666;AMYH01012667;AP000356;BC000457;BC003150;BC034447;BF344644;BM928709;BP202359;BY993733;CH471095;CN286602;CR456583;NM_001278656;NM_004175;NR_103819;U15009 AAA57034;AAH00457;AAH03150;BAG58909;BAG70063;BAG70187;CAG30469;CAK54613;CAK54912;EAW59670;NP_001265585;NP_004166;P62318 Hs.356549 1667839;1724669;2180979 RH121336;SHGC-12625;STS-W80851 SMD3;Sm-D3 OTTHUMP00000198379;OTTHUMP00000198382;small nuclear ribonucleoprotein Sm D3;small nuclear ribonucleoprotein polypeptide D3;snRNP core protein D3 APPROVED protein-coding 11160 03039 601062 REVIEWED 1353294 SNRPG small nuclear ribonucleoprotein polypeptide G 2 2 p13.3 70362009 70374373 - 70508510 70520869 - 6480464;6907045 12165861;17353931;7744013;15130578;10531003;16189514;16169070;15939020;15489334;15146077;14603251;12477932;11991638;11748230;11226169;10725331;10601333;10556282;9417867;9020971;1387914;12234937;11714716;21145461;17207965;11574479;12226669;17643375;21745816;19928837;22318606;17332742;18984161;21139048;21890473;21906983;21628590;20360068;19471022;22174317;22505724 6637 C9JVQ0;F5H013;P62308;Q49AN9 ABBA01075534;ABBA01075535;AC079338;AMYH01010425;BC000070;BC022432;BC035103;BC066302;BC070166;BC071880;BC106055;CH471053;CR456918;CS185595;NM_003096;X85373 AAH00070;AAH22432;AAH35103;AAH66302;AAH70166;AAH71880;AAI06056;AAX81996;ADQ33142;CAA59689;CAG33199;CAJ42776;EAW99817;EAW99818;NP_003087;P62308 Hs.465167;Hs.516076;Hs.631639;Hs.654528 1339656;1727161;2119934;2150075;2184311;7183409 D2S2113;D2S2831;G62834;RH47273;SHGC-30019 MGC117317;SMG;Sm-G OTTHUMP00000160076;OTTHUMP00000204047;OTTHUMP00000204048;OTTHUMP00000204050;OTTHUMP00000204051;OTTHUMP00000237246;sm protein G;small nuclear ribonucleoprotein G;snRNP-G protein-coding ENSG00000143977 11163 04646 603542 PROVISIONAL 1313451 SNRPF small nuclear ribonucleoprotein polypeptide F 12 12 q23.1 94776840 94784369 + 96252709 96260238 + 6480464;6907045 7744013;15231747;17353931;15130578;10531003;11991638;16169070;15939020;15489334;15146077;12477932;11756452;11748230;11226169;10725331;10601333;10556282;10025403;9417867;9020971;8889548;2974540;2522439;1688550;12234937;11714716;11971955;21145461;21319273;11574479;12226669;17643375;18781797;18984161;20360068;21139048;21890473;21906983;16159877;19928837;22863883;22939629;17332742;19322201;21628590;22174317;22505724 6636 F8W0W6;P62306 ABBA01053321;AC090001;AK311752;AMYH01004677;BC002505;BC063397;BC128452;BC128453;BM972965;BU861031;CH471054;CR456751;NM_003095;X85372 AAH02505;AAH63397;AAI28453;AAI28454;BAG34695;CAA59688;CAG33032;EAW97548;EAW97549;NP_003086;P62306 Hs.105465 1676236;2110525 MARC_39572-39407:1078175609:4;RH93038 SMF;Sm-F;snRNP-F OTTHUMP00000243551;sm protein F;small nuclear ribonucleoprotein F;snRNP-F protein-coding 11162 04645 603541 VALIDATED 2306150 SNTN sentan, cilia apical structure protein 3 3 3 p14.2 63655601 63668154 + 63613384 63625933 + 63638344 63650893 + 6480464 18829862;16641997 132203 A6NMZ2;C9JRU3;C9JXY5 ABBA01024317;AC136289;AK126350;AMYH01013247;BR000723;NM_001080537 A6NMZ2;FAA00429;NP_001074006 Hs.130704 1656156;5015861;5037552;7185938 D10S16;D3S4105;D8S2279 FLJ44379;S100A1L;S100AL;sentan OTTHUMP00000213412;OTTHUMP00000213413;OTTHUMP00000213414;Protein S100-A1-like;S100 calcium-binding protein A1-like;S100A-like protein;sentan protein-coding 33706 PROVISIONAL 1317088 SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] 8 8 q23-q24 121619226 121893910 - 121547985 121824309 - 1580863;6480464 11352924;8183929;8119949;16533813;16192292;16192270;16192269;15489334;15024025;12665801;12477932;12136098;11168526;11069112;10545507;10212242;9482110;9412493;8576247;7844150;20889312;20208534;19343720;18468998;23406873 6641 E5RIX7;H0YBJ3;Q13884 ABBA01037837;ABBA01037838;ABBA01037839;AC104958;AC105142;AC129906;AF028828;AJ333934;AK025100;AK026095;AK292655;AMYH01018995;BC023571;BC098573;CH471060;L31529;NM_021021 AAA81523;AAB84253;AAH98573;BAF85344;EAW92008;NP_066301;Q13884 Hs.46701 1336951;1652670;1688943;1721917;1724317;1755453;2125373;2127517;2137433;2142152;2158109 D8S1112;D8S1999;G59991;RH119080;RH45192;RH92195;SHGC-142320;STS-N30895;WI-17164;WI-17825;WIAF-2216 59-DAP;A1B;BSYN2;DAPA1B;FLJ22442;MGC111389;SNT2;SNT2B1;TIP-43 59 kDa dystrophin-associated protein A1 basic component 1;OTTHUMP00000228252;OTTHUMP00000228253;beta-1-syntrophin;dystrophin-associated protein A1, 59kD, basic component 1;syntrophin-2;tax interaction protein 43 APPROVED protein-coding ENSG00000172164 11168 02490 600026 REVIEWED 1316039 SNTA1 syntrophin, alpha 1 Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013] 20 20 q11.2 31459424 31495359 - 31995763 32031698 - 1580863;5148023;6480464;6771370;6771369 20886625;19684871;20009079 8576247;18591664;17081983;16637659;16533813;16344560;16192273;15489334;15024025;14702039;14623885;12477932;12206805;11780052;11747091;11717465;11571312;11551227;11352924;11278583;11168526;11163757;11069112;10995443;10404183;10230395;10221915;10212242;9512352;9412493;8612778;7890602;9356463;10373412;10545507;16169070;15123239;16192269;16192274;14722086;21091386;17628813;20301308;23376825;23426965;19931615 6640 Q13424;Q29RY0 ABBA01019233;ABBA01019234;AK095942;AK291994;AK301800;AL355392;AMYH01011854;AU118614;BC026215;BC113813;CH471077;NG_011622;NM_003098;S81737;U40571 AAB36398;AAC50448;AAH26215;AAI13814;ABM84492;ABM87815;BAF84683;BAG53172;BAG63252;EAW76314;EAW76315;EAW76316;EAW76317;NP_003089;Q13424 Hs.31121 2107643;2116069;2159841;2169507;5092774 A006C20;D20S724;G32321;RH41835;SNTA1__6874 LQT12;SNT1;TACIP1;dJ1187J4.5 59 kDa dystrophin-associated protein A1 acidic component 1;OTTHUMP00000030650;acidic alpha 1 syntrophin;alpha-1-syntrophin;dystrophin-associated protein A1, 59kDa, acidic component;pro-TGF-alpha cytoplasmic domain-interacting protein 1;syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component);syntrophin-1 APPROVED protein-coding ENSG00000101400 11167 03009 601017 REVIEWED 1604407 SNURFL SNRPN upstream reading frame-like X X X q27 138809630 138810172 + 138271765 138272307 + 138444099 138444641 + 727686 B1AK76 ABBA01066019;AL035262;AMYH01023057;NG_005696 B1AK76 CXorf19 APPROVED pseudo 29543 INFERRED 1343749 SNRPN small nuclear ribonucleoprotein polypeptide N The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008] 15 15 q11.2 22619887 23215702 + 25068794 25223729 + 1601354;6480464;7240710 8723064 16116039;15939761;15565282;15489334;15105431;15014980;14702039;14500540;12477932;12456665;12244096;12045206;11726556;11713266;11317358;11159938;11149922;11106375;10725331;10556313;10318933;9931342;9915945;9590284;9070929;8845846;8841186;8571960;8363612;8125298;7849716;2753153;2528429;2522449;2522186;1303277;9417867;14715275;1533223;7512861;18627066;18361419;17903307;17262171;16357227;16169070;17353931;17643375;19595458;20582452;21227640;21233802;18662664;22711311;18984161;21906983;17361185;20301505;20301615;18951082;18362360;20467438;21890473;21988832;23000965;23251661;23040914;22190034;22505724 6638 B3KVR1;J3KRY3;J3QLE5;P63162 ABBA01048688;AC090602;AC090983;AC100774;AC124303;AC124312;AC124997;AF087645;AF087646;AF087647;AF087648;AF087649;AF092911;AF134832;AF148319;AF319522;AF319523;AF319524;AF400432;AF400485;AF400486;AF400487;AF400488;AF400489;AF400490;AF400491;AF400492;AF400493;AF400494;AF400495;AF400496;AF400497;AF400498;AF400499;AF400500;AF400501;AF400502;AK123119;AK222633;AL832758;AMYH01006483;AMYH01006484;AY362862;AY362863;AY362864;AY362865;AY362866;AY421730;BC000611;BC003180;BC016168;BC018809;BC024777;BC025178;BC035280;BC080646;BC113069;BX648788;CH471151;CR450350;J04615;L80004;L80005;NG_002690;NG_012958;NM_003097;NM_022805;NM_022806;NM_022807;NM_022808;U41303;U81001;X15892;X16163 AAA36617;AAA98969;AAD54487;AAH00611;AAH03180;AAH24777;AAH25178;AAK18178;AAK92481;ABM83812;ABM87134;BAD96353;BAG53873;CAA33901;CAA34288;CAG29346;CAI46029;EAW57613;EAW57614;EAW57615;EAW57616;EAW57617;EAW57618;EAW57619;EAW57620;EAW57621;EAW57622;EAW57623;NP_003088;NP_073716;NP_073717;NP_073718;NP_073719;P63162 Hs.555970;Hs.564847;Hs.578619;Hs.585703;Hs.621316;Hs.632166;Hs.728856;Hs.731866;Hs.733072;Hs.737651 1337014;1644179;1651412;1662615;1669387;1669639;1671956;1672082;1678695;1679952;1680110;1680655;1681281;1687153;1694520;1694906;1697786;1705888;1708344;1718435;1722397;1722411;1724621;1730469;1733644;1733648;1733656;1733664;1733832;1733836;1733840;1736488;1736494;1743441;1744157;1751459;1759079;1767093;1767677;1767679;1771047;1787840;1789298;1792182;1793038;1794914;1794916;1798304;1853298;2114727;2115099;2121693;2133548;2137387;2142972;2145162;2146087;2146176;2149074;2164323;2164969;2166427;2169737;2175813;2176155;2176878;2179846;2183376;2183559;2220378;5015861;5016478;5022578;5022651;5037552;5093794;5117879;5492176;5492178;7184754;7185923;7185938 1084;A003A06;BCD1279;D10S16;D11S2921;D15S1089;D15S128;D15S164E;D15S612E;D15S613E;D15S618E;D15S626E;D15S63;D15S631E;D15S672;D15S674;D15S676;D15S698E;D15S701E;D15S824;D15S837;D15S839;D15S903;D1S1423;D8S2279;G31495;G32928;G43004;G44340;G60271;G60278;G67875;GDB:335240;GDB:424492;GDB:434012;GDB:626138;PMC139148P1;PMC19156P1;PMC84611P2;PMC84611P3;RH102417;RH11312;RH11332;RH121309;RH122419;RH12800;RH39444;RH45096;RH65064;RH68062;RH70205;RH70315;RH77804;RH78150;RH79621;RH79645;RH91324;SHGC-105287;SHGC-132610;SHGC-31492;SHGC-33389;SHGC-3356;SHGC-36523;SHGC-59943;SHGC-81103;SHGC-81208;STS-H75355;STS-H93310;STS-N21972;UBE3A_1455;Ube3a;UniSTS:480915;WI-11918;WI-13724;WI-13791;WI-14946;WI-15028;WI-15655 DKFZp686C0927;DKFZp686M12165;DKFZp761I1912;DKFZp762N022;FLJ33569;FLJ36996;FLJ39265;HCERN3;MGC29886;PWCR;RT-LI;SM-D;SMN;SNRNP-N;SNURF-SNRPN;sm-N OTTHUMP00000159463;OTTHUMP00000246275;OTTHUMP00000246279;OTTHUMP00000246280;SM protein N;sm protein D;sm-N;small nuclear ribonucleoprotein-associated protein N;tissue-specific splicing protein;tissue-specific-splicing protein APPROVED protein-coding ENSG00000128739 11164 01653 176270;182279 REVIEWED 1350202 SNTG2 syntrophin, gamma 2 This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008] 2 2 2 p25.3 1012573 1421170 + 936555 1253924 + 946554 1371385 + 1580863;6480464 17292328;10747910;12477932;12429735;11329013 54221 F2Z2D2;Q9NY99 ABBA01003643;ABBA01003644;ABBA01003645;ABBA01003646;ABBA01035637;ABBA01035638;ABBA01035639;ABBA01035640;ABBA01035641;ABBA01035642;ABBA01035643;ABBA01035644;AC108462;AC114808;AC116614;AC140476;AC144444;AC144527;AC225604;AJ003029;AMYH01010048;AMYH01010049;AMYH01010050;AMYH01010051;BC035783;BC125251;BG208326;CH471053;NG_029707;NM_018968 AAI25252;CAB92969;EAX01092;NP_061841;Q9NY99 Hs.595069 1684034;1709820;1712621;1748795;1784212 RH120160;RH99251;SHGC-110410;SHGC-155704;SHGC-84728 G2SYN;MGC133174;SYN5 OTTHUMP00000199935;OTTHUMP00000199936;gamma-2-syntrophin;gamma2-syntrophin;syntrophin 5;syntrophin-5 APPROVED protein-coding ENSG00000172554 13741 16374 608715 REVIEWED 1347731 SNTG1 syntrophin, gamma 1 The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This gene is specifically expressed in the brain. Transcript variants for this gene have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 8 8 8 q11-q12 46812529 47693284 + 50987150 51867980 + 50824597 51705427 + 1580863;6480464 10747910;17903307;16533813;16381901;15761153;15489336;15489334;15088139;12477932;11352924;11230166;11076863;11062261;12877659;12832401;11256614;15485858;20379614;20416077;23314748;21358174;23382691 54212 E5RHN6;E5RIN0;H0YC21;Q9NSN8 ABBA01041675;ABBA01041676;ABBA01041677;ABBA01041678;ABBA01041679;ABBA01041680;ABBA01041681;ABBA01041682;ABBA01041683;ABBA01041684;ABBA01041685;ABBA01041686;ABBA01041687;AC023762;AC023842;AC087173;AC087366;AC090450;AC090539;AC103784;AC104376;AJ003030;AK314084;AL161971;AMYH01018708;BC075072;BC104829;BC143695;CH471068;NM_018967 AAH75072;AAI04830;BAG36781;CAB82311;CAB92968;CAL38547;EAW86704;EAW86705;EAW86706;NP_061840;Q9NSN8 Hs.584914 1335318;1340144;1657370;1682994;1706278;1708394;1714169;1716395;1720233;1726561;1726827;1752067;1752087;1765251;1779646;1850346;2114278;2125914;2136509;2177556 AFM189yg1;B353XD9;D8S1133;D8S1652;D8S589;G32166;G62662;G62805;RH119693;RH121378;RH123865;RH27231;RH66337;SHGC-106016;SHGC-106022;SHGC-148740;SHGC-153621;SHGC-80691;SHGC-82879;WI-20652 G1SYN;SYN4 OTTHUMP00000226271;OTTHUMP00000226272;OTTHUMP00000226273;OTTHUMP00000226275;gamma-1-syntrophin;gamma1-syntrophin;syntrophin 4;syntrophin-4 APPROVED protein-coding ENSG00000147481 13740 16373 608714 REVIEWED 1318541 SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008] 16 16 q22.1 67778551 67900456 + 69221050 69342955 + 1580863;6480464 8576247;17081983;16964243;16533813;15489334;15024025;14759258;12899872;12477932;12417987;12206805;12136098;12054535;11483505;11352924;11168526;11043403;10995443;10725395;10404183;9412493;8183929;22735534;12763866;19615732;19786618;22937058;21139048;21906983;18468998;19322201 6645 H0YCS0;H7BY41;J3KT21;Q13425 ABBA01025517;ABBA01025518;ABBA01025519;ABBA01025520;ABBA01025521;ABBA01025522;ABBA01025523;ABBA01025524;ABBA01025525;ABBA01025526;AC009131;AC026464;AC026474;AC208009;AF243385;AJ329412;AJ331949;AMYH01007765;AMYH01007766;AMYH01007767;BC031058;BC035134;BC036429;BC048215;CH471092;NM_006750;U40572 AAC50449;AAH48215;AAK15149;ACE86457;ACE87138;EAW83258;EAW83259;EAW83260;NP_006741;Q13425 Hs.461117 1697868;1698570;1854857;2115798;2173868;5022578;5109281;5117066 D1S1423;D1S1425;GDB:433966;RH102462;RH102837;RH70742;SHGC-53808;SHGC-61114 D16S2531E;EST25263;SNT2B2;SNT3;SNTL 59 kDa dystrophin-associated protein A1 basic component 2;OTTHUMP00000174888;beta-2-syntrophin;dystrophin-associated protein A1, 59kD, basic component 2;syntrophin-3;syntrophin-like APPROVED protein-coding ENSG00000168807 11169 02491 600027 REVIEWED 736038 SNURF SNRPN upstream reading frame This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008] 15 15 15 q12 3362072 3385724 + 22751163 22774822 + 25200070 25223729 + 634164;1580863;6480464 10318933 16344560;16116039;15489334;15014980;12477932;11726556;8845846;8571960;8363612;2753153;2528429;2522449;2522186;11696545;17207965;21227640;21832049;22679513 8926 G3V4N2;Q9Y675 ABBA01048688;AC090602;AC124312;AF101044;AI017249;AK098563;AMYH01006483;AMYH01006484;AW451120;CH471151;DA134019;NG_002690;NG_012958;NM_005678;NM_022804 AAD31391;ADQ31631;EAW57625;EAW57626;EAW57627;NP_005669;NP_073715;Q9Y675 Hs.564847 1680110;1694520;1718435;1743441;1793038;1794914;1794916;1853298;2115099;2145162;2175813;2179846;5117879 G31495;G43004;GDB:335240;GDB:626138;PMC19156P1;PMC84611P2;PMC84611P3;RH122419;RH68062;RH70205;RH91324;SHGC-31492;SHGC-59943 OTTHUMP00000159464;SNRPN upstream reading frame protein APPROVED protein-coding ENSG00000214265 11171 18083 REVIEWED 1314019 SNX10 sorting nexin 10 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 7 7 7 p15.2 26320523 26402976 + 26298040 26380474 + 26331515 26413949 + 1580863;6480464 17012226;12853948;12690205;12477932;12461558;22174188;11485546;22499339;21890473;21906983;21844891;19322201;22589738 29887 B4DJM0;C9JQ16;C9JUQ6;G5E9H5;Q8N5Z3;Q9Y5X0 AACC02000007;ABBA01056748;AC004540;AC010677;AC074295;AF121860;AK296142;AK307905;AK309162;AK311256;AK312850;AK316088;AMYH01017129;BC031050;BC034992;BG399132;BJ995940;BM147840;BM147978;BX648363;CH236948;CH471073;NM_001199835;NM_001199837;NM_001199838;NM_013322;NR_037670 AAD27833;AAH31050;AAH34992;AAS02029;AAS07476;ABM83346;ABM86560;BAG35703;BAG58882;BAH14459;EAL24234;EAW93848;EAW93849;EAW93850;EAW93851;NP_001186764;NP_001186766;NP_001186767;NP_037454;Q9Y5X0 Hs.741316 1674176;1760463;2132403;5111260 A003A21;SHGC-143124;SHGC-55990;WI-21086 MGC33054;OPTB8 OTTHUMP00000122521;OTTHUMP00000122522;OTTHUMP00000202476;OTTHUMP00000202479;sorting nexin-10 APPROVED protein-coding ENSG00000086300 14974 15409 614780;615085 REVIEWED 1353124 SNUPN snurportin 1 The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 15 q24.2 52816555 52843715 - 73677479 73705774 - 75890424 75918719 - 1580863;6480464 15489334;14702039;12477932;12095920;10209022;9670026;15130578;10531003;19389996;16169070;16030253;15920472;19619473;21900206;21139048;21890473;21906983;22505724 10073 C9K0X5;H3BQR0;H3BRI5;H3BSK1;H3BTA6;H3BUB4;O95149 ABBA01060532;ABBA01060533;ABBA01060534;ABBA01060535;ABBA01060536;ABBA01060537;ABBA01060538;AC105020;AC105036;AF039029;AK054641;AK289475;AMYH01006818;AMYH01006819;BC004203;BU945130;CD244425;CH471136;CR456811;NM_001042581;NM_001042588;NM_005701 AAC70906;AAH04203;ABM84014;ABM87359;BAF82164;BAG51404;CAG33092;EAW99245;EAW99246;NP_001036046;NP_001036053;NP_005692;O95149 Hs.21577 2109765;2160654 RNUT1_9037;WI-12418 KPNBL;RNUT1;Snurportin1 OTTHUMP00000183516;RNA U transporter 1;snurportin-1 APPROVED protein-coding ENSG00000169371 14245 07441 607902 REVIEWED 68962 SNX1 sorting nexin 1 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] 15 15 q22.31 62175230 62223486 + 64388083 64436433 + 6480464 11997453;8125298;20070609;9819414;11279102;18088323;17502486;17145813;17101778;16487940;16407403;15882442;15673616;15498486;15489334;12657642;12477932;12198132;12058063;11309204;11110793;11102511;9110174;8638121;8619474;11410165;20604901;22863883;18505799;21048941;21427358;21832049;22939629;21078624;21973056;21139048;21890473;21900206;18029348;23152498;19874558;22673115 6642 A6NKH4;H0YK42;H0YK43;H0YK58;H0YKD5;H0YKL5;H0YKT3;J3KPH4;Q13596 AB209013;ABBA01038900;ABBA01038901;ABBA01038902;ABBA01038903;AC021541;AC100840;AF065483;AF065484;AF131792;AK128179;AK222561;AK222793;AK291752;AK310618;AL050148;AMYH01006706;AMYH01006707;AU279817;BC000357;BQ935515;BT006983;BX108623;CH471082;DB455188;NG_029708;NM_001242933;NM_003099;NM_148955;U53225 AAA98672;AAC17182;AAC17183;AAH00357;AAP35629;ABM81677;ABM84844;BAC87312;BAD92250;BAD96281;BAD96513;BAF84441;EAW77663;EAW77664;EAW77665;EAW77666;NP_001229862;NP_003090;NP_683758;Q13596 Hs.188634 1754341;2046902;2141205;2169178;2178872;2178874;2179069 Bdaa7f10;D15S1176;REN94580;RH47502;SHGC-132367;SHGC-24058;STS-H15134 HsT17379;MGC8664;SNX1A;Vps5 sorting nexin 1A;sorting nexin-1 APPROVED protein-coding ENSG00000028528 11172 03171 601272 REVIEWED 1321977 SNW1 SNW domain containing 1 This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. [provided by RefSeq, Jul 2008] 14 14 q24.3 77253695 77297250 - 78183942 78227497 - 1580863;6480464;6907045 10713164;16102918;9569025;15194481;9632709;18029348;16595688;16169070;16083285;15905409;15635413;15489334;15316101;14985122;12840015;12529369;12508121;12508107;12477932;12466551;12101239;11991638;11522815;11514567;11509665;11404076;11371506;11278756;10644367;15546612;12650714;15604093;15878163;17643375;18996344;19818711;19852851;19934264;20007319;20056645;21460037;20368803;16159877;20211142;23084401;20508642;22939629;20360068;21461980;20965173;21900206;22172677;22178446;21139048;21628590;19616115;22318606;22586326;18654987;16002321;21145461;22872573;12549820;18729074;20227660;22944692 22938 G3V3A4;G3V4E0;G3V4X8;G3V5R3;Q13573 ABBA01030643;ABBA01030644;ABBA01030645;ABBA01030646;AC008044;AC008372;AF045184;AK292274;AK293619;AK302246;AK316087;AMYH01005884;AX775981;BC032377;BC040112;BC046105;BC065286;BC105585;BC108902;BC108903;BT020060;BT020061;CH471061;CR457433;NM_012245;U43960;U51432 AAB48857;AAC15912;AAC31697;AAF01479;AAF23325;AAH40112;AAH46105;AAH65286;AAI05586;AAI08904;AAV38863;AAV38864;BAF84963;BAG57078;BAG63598;BAH14458;CAE11690;CAG33714;EAW81305;EAW81306;EAW81307;EAW81308;NP_036377;Q13573 Hs.445498 1661609;1798210;1846816;1848417;2120130;2158702;2173187;5016810;5093162;5123040 A009H42;D14S120;D14S691E;D14S857;G32556;G35431;G36348;RH70062;SHGC-75044;SNW1_2342 Bx42;MGC119379;NCOA-62;PRPF45;Prp45;SKIIP;SKIP OTTHUMP00000246312;OTTHUMP00000246313;OTTHUMP00000246315;SKI-interacting protein;SNW domain-containing protein 1;homolog of Drosophila BX42;nuclear protein SkiP;nuclear receptor coactivator NCoA-62;nuclear receptor coactivator, 62-kD APPROVED protein-coding ENSG00000100603 16696 04340 603055 REVIEWED 1316444 SNX11 sorting nexin 11 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008] 17 17 17 q21.32 42639285 42654466 + 43539919 43555104 + 46184920 46200105 + 1580863;6480464 15489334;14702039;12477932;12461558;11485546;21139048;22949513;23000965 29916 B4DJI7;B4DKH7;B4DPY5;J3KTN6;J3QKV3;J3QLV8;J3QRB9;J3QRW4;Q9Y5W9 ABBA01041157;ABBA01041158;ABBA01041159;AC006468;AF121861;AK023932;AK091852;AK296095;AK296569;AK298551;AK316374;AMYH01008452;BC000768;BC103721;BT006723;CH471109;NM_013323;NM_152244 AAD27834;AAH00768;AAI03722;AAP35369;BAB14732;BAG52428;BAG58849;BAG59189;BAG60747;BAH14745;EAW94752;EAW94753;EAW94754;EAW94755;EAW94756;EAW94757;NP_037455;NP_689450;Q9Y5W9 Hs.15827 1675708;1690954;1775679;2110753;2115325;2183368;2191453;5115618 G29178;MARC_23527-23528:1027525177:1;RH78521;RH91353;RH93763;SNX11;SNX11__6877;STS-W38157 MGC111019 sorting nexin-11 APPROVED protein-coding ENSG00000002919 14975 15410 614906 REVIEWED 1350610 SNX12 sorting nexin 12 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] X X X q13.1 70634675 70642112 - 70197513 70204956 - 70279097 70293276 - 1580863;6480464 17081983;16166738;15592455;15489334;12477932;12461558;11485546;17474147;22719997;22939629;22109349;16344560;21139048;21906983;21890473;21963094;22709416;23000965 29934 Q3SYF1;Q9UMY4 ABBA01067657;ABBA01067658;ABBA01067659;ABBA01067660;AF171229;AK025781;AK312977;AL590764;AMYH01022533;BC020559;BC024301;BC033809;BC044059;BC063716;BC080535;BC103847;BC103848;BC108323;BM805683;BT007203;CH471132;DA439434;DA736880;DA847821;DB251077;DB482683;NM_001256185;NM_001256186;NM_001256187;NM_001256188;NM_013346 AAD48491;AAI03848;AAI03849;AAP35867;BAG35814;EAX05323;EAX05324;EAX05325;NP_001243114;NP_001243115;NP_001243116;NP_001243117;NP_037478;Q9UMY4 Hs.260750 1790199;2165055;2171699;5015861;5016596;5016851;5017433;5021228;5022651;5024413;5037552;7185938 BI293668;D10S16;D11S2921;D8S2279;GDB:312794;GDB:631802;L17877;RH77702;RH80031;SHGC-31769;STS-T76997 FLJ22128;MGC118982;MGC118983 OTTHUMP00000023487;OTTHUMP00000023488;sorting nexin-12 APPROVED protein-coding ENSG00000147164 14976 06719 300883 REVIEWED 5128980 SNX18P10 sorting nexin 18 pseudogene 10 21 9689973 9690726 - 100419040 AMYH01012120;CR381670;NG_025018 pseudo 39618 INFERRED 5128969 SNX18P11 sorting nexin 18 pseudogene 11 21 9931701 9932442 + 100419043 AMYH01012126;CR392039;NG_025050 pseudo 39619 INFERRED 5128971 SNX18P12 sorting nexin 18 pseudogene 12 21 10203291 10204871 - 100419041 AMYH01012127;CR381653;NG_025020 pseudo 39620 INFERRED 5128970 SNX18P13 sorting nexin 18 pseudogene 13 21 15278059 15279641 - 100419042 AMYH01012135;AP001466;NG_025024 pseudo 39621 INFERRED 5128990 SNX18P14 sorting nexin 18 pseudogene 14 2 2 89802618 89804090 - 95452217 95453689 - 100418972 ABBA01003584;AC073464;AMYH01010682;NG_023589 pseudo 39622 INFERRED 5128978 SNX18P15 sorting nexin 18 pseudogene 15 1 142660008 142660761 - 100419019 AL583842;AMYH01001004;NG_026981 pseudo 39623 INFERRED 5128981 SNX18P16 sorting nexin 18 pseudogene 16 1 142688145 142689733 - 100419020 ABBA01031128;AL583842;AMYH01001004;NG_026982 pseudo 39624 INFERRED 5128975 SNX18P17 sorting nexin 18 pseudogene 17 1 142850772 142851522 + 100419024 BX572084;NG_027137 pseudo 39625 INFERRED 5128979 SNX18P18 sorting nexin 18 pseudogene 18 1 143156455 143157208 - 100419021 AMYH01001014;BX571672;NG_026983 pseudo 39626 INFERRED 5128977 SNX18P19 sorting nexin 18 pseudogene 19 1 143184614 143186190 - 100419022 AMYH01001014;BX571672;NG_026984 pseudo 39627 INFERRED 5128987 SNX18P1Y sorting nexin 18 pseudogene 1, Y-linked Y 13333964 13334716 + 100418999 AC134878;NG_024792 pseudo 38442 INFERRED 5129009 SNX18P2 sorting nexin 18 pseudogene 2 9 9 9 q22.31 66097751 66098588 - 94695671 94696708 - 95655950 95656787 - 642952 ABBA01018598;AL136981;AMYH01021510;NG_005963 pseudo 39610 INFERRED 5128974 SNX18P20 sorting nexin 18 pseudogene 20 1 143402104 143403677 + 100419026 AMYH01001021;BX004987;NG_027139 pseudo 39628 INFERRED 5128976 SNX18P21 sorting nexin 18 pseudogene 21 1 143288437 143289188 + 100419025 AMYH01001014;BX571672;NG_027138 pseudo 39629 INFERRED 5128972 SNX18P22 sorting nexin 18 pseudogene 22 1 143430755 143431495 + 100419027 AMYH01001022;BX004987;NG_027140 pseudo 39630 INFERRED 6484032 SNX18P23 sorting nexin 18 pseudogene 23 4 p11 49234932 49235976 - 100132617 AC118282;AMYH01014165;NG_028187 pseudo 39631 INFERRED 5128982 SNX18P24 sorting nexin 18 pseudogene 24 4 49562667 49564166 + 100419004 AC119751;AMYH01014169;NG_025208 pseudo 39632 INFERRED 5128984 SNX18P25 sorting nexin 18 pseudogene 25 4 49590793 49591546 + 100419005 AC119751;AMYH01014169;NG_025209 pseudo 39633 INFERRED 5128973 SNX18P26 sorting nexin 18 pseudogene 26 13 13 426016 427595 - 19381416 19382995 - 100419038 ABBA01068537;AL391382;AMYH01004934;NG_024826 pseudo 39634 INFERRED 6481549 SNX18P27 sorting nexin 18 pseudogene 27 8 43368786 43369564 + 100873788 ABBA01021198;AC134698;AMYH01018695;NG_032330 pseudo 39635 INFERRED 5128991 SNX18P3 sorting nexin 18 pseudogene 3 9 9 38503306 38505087 - 38567398 38569179 - 100418975 ABBA01050375;AL390726;AL591543;AMYH01019367;NG_023808 pseudo 39611 INFERRED 5128989 SNX18P4 sorting nexin 18 pseudogene 4 9 43062963 43064350 - 100418976 AL513478;NG_023820 pseudo 39612 INFERRED 5128988 SNX18P5 sorting nexin 18 pseudogene 5 9 44047023 44048418 - 100418977 ABBA01033781;ABBA01033782;CR848007;NG_023822 pseudo 39613 INFERRED 5128985 SNX18P6 sorting nexin 18 pseudogene 6 9 66394460 66395855 - 100418978 AL591441;NG_023826 pseudo 39614 INFERRED 5128983 SNX18P7 sorting nexin 18 pseudogene 7 9 9 33505996 33507508 + 33575500 33577012 + 100418980 ABBA01065047;AL139008;AMYH01019324;NG_023890 pseudo 39615 INFERRED 5128986 SNX18P8 sorting nexin 18 pseudogene 8 9 42437552 42438939 + 100418981 AMYH01021246;BX664727;NG_023901 pseudo 39616 INFERRED 5129007 SNX18P9 sorting nexin 18 pseudogene 9 9 9 q21.11 68741270 68742389 + 69451450 69452569 + 644576 CR769776;NG_006123 pseudo 39617 INFERRED 1320299 SNX13 sorting nexin 13 This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 17810453 17960145 - 17798181 17946656 - 17830385 17980131 - 1580863;4140388;6480464 17173929 16344560;15489334;14759258;14702039;12477932;12461558;12438708;11729322;11485546;9872452;20379614;21906983 23161 B8ZZT9;F8W8A9;F8WB11;Q86XC4;Q9NSH0;Q9Y5W8 AACC02000008;AB018256;ABBA01056646;AC073205;AC080080;AF121862;AF420470;AK001861;AK023740;AK026643;AK294582;AK307453;AK315135;AL353943;AMYH01017097;BC022060;BC041844;BC045667;BC050289;BG718588;BX503974;CH236948;CH471073;DB050735;NM_015132 AAD27835;AAH22060;AAH45667;AAL37728;ACT64562;ACT64563;BAA34433;BAG37586;BAG51222;BAG57773;CAB89251;EAW93689;EAW93690;EAW93691;EAW93692;EAW93693;EAW93694;EAW93695;EAW93696;EAW93697;EAW93698;EAW93699;NP_055947;Q9Y5W8 Hs.487648 1660762;1677004;1688020;1693454;1850435;2139354 AFMA046XB5;RH41852;RH65927;RH93786;SHGC-55983;SHGC-59064 KIAA0713;RGS-PX1 OTTHUMP00000202283;OTTHUMP00000202284;rgs domain- and phox domain-containing protein;sorting nexin-13 APPROVED protein-coding 21335 09418 606589 REVIEWED 1352467 SNX19P1 sorting nexin 19 pseudogene 1 21 21 q11.2 13819295 13824203 + 14897424 14902332 + 378810 ABBA01000236;AL078475;AMYH01012132;NG_006946 SNX19P APPROVED pseudo 16765 INFERRED 3362733 SNX19P2 sorting nexin 19 pseudogene 2 13 13 13 q11 527070 531993 - 18362957 18367880 - 19464957 19469880 - 400094 ABBA01068540;AL355516;AMYH01004934;NG_006945 KIAA0254 pseudo 38115 INFERRED 3029010 SNX19P3 sorting nexin 19 pseudogene 3 18 18 p11.21 14618399 14623301 - 14628382 14633301 - 646442 AMYH01008856;AP005058;NG_006944 pseudo 38116 INFERRED 5131797 SNX19P4 sorting nexin 19 pseudogene 4 10 10 67528111 67528739 + 74242985 74243613 + 100419047 ABBA01020352;AC091769;AMYH01002824;NG_025518;NG_033179 1665123 RH44916 pseudo 41510 INFERRED 1322101 SNX14 sorting nexin 14 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 6 6 6 q14.3 86642396 86730827 - 86271933 86360348 - 86215214 86303629 - 1580863;6480464 15489334;14702039;12477932;12461558;11736640;11500980;11485546;17370265;21139048;21890473;21906983;18160415 57231 D6RBA7;D6RDA6;D6RDH9;D6REK1;D6RJG9;E2QRM8;H0Y926;Q5JRQ0;Q9Y5W7 ABBA01040476;ABBA01040477;AF121863;AJ420561;AK000362;AK026479;AK095380;AK125063;AK226097;AK295417;AL136082;AL589666;AMYH01016480;AY044865;BC005110;BC046520;BC068589;BC095419;BI458735;BI463232;CB054302;CH471051;NM_020468;NM_153816 AAD27836;AAH05110;AAH46520;AAH68589;AAH95419;AAK97796;BAG58367;EAW48631;EAW48632;EAW48633;NP_065201;NP_722523;Q9Y5W7 Hs.485871 1760817;1771125 SHGC-144447;SHGC-37370 MGC13217;RGS-PX2;RP11-321N4.2 OTTHUMP00000016812;OTTHUMP00000016813;OTTHUMP00000220881;OTTHUMP00000220929;OTTHUMP00000220930;OTTHUMP00000220931;OTTHUMP00000220932;sorting nexin-14 APPROVED protein-coding ENSG00000135317 14977 11590 REVIEWED 733907 SNX16 sorting nexin 16 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. [provided by RefSeq, Jul 2008] 8 8 8 q21.13 78716410 78759118 - 82874373 82916990 - 82711818 82754521 - 6480464 16344560;15489334;12813048;12477932;12461558;11736640;11485546;20445134;19754948;17207965;19322201;22219177;23535730 64089 E5RG30;E5RGQ6;E5RGS8;E5RH07;E5RHF1;E5RJ65;E5RJ81;P57768 ABBA01004049;ABBA01004050;AC087349;AC132219;AF305779;AK290903;AL833763;AMYH01018830;BC033630;BG700892;BG739930;CB962009;CH471068;DA307370;NM_022133;NM_152836;NM_152837 AAG25676;AAH33630;ADQ32489;BAF83592;CAH56235;EAW87108;EAW87109;NP_071416;NP_690049;NP_690050;P57768 Hs.492121 DKFZp666H147 OTTHUMP00000227313;OTTHUMP00000227314;sorting nexin-16 APPROVED protein-coding ENSG00000104497 14980 15411 614903 REVIEWED 1321231 SNX18 sorting nexin 18 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q11.2 50767064 50795890 + 53849350 53878173 + 53813589 53842416 + 1580863;6480464 14679214;18411244;17761170;16782399;15851553;15146197;14702039;12477932;12461558;22542470;11736640;11485546;21145461;19807924;20427313;20491914;21969467;21906983;21706016;22718350;17072306 112574 Q96RF0 ABBA01015729;AC091888;AF395536;AI335241;AI669182;AK022059;AK057122;AK304195;AMYH01015088;BC060791;BC067860;BC117218;BC117220;BJ990551;BJ990552;CD722181;CH471123;CN360136;CN479485;NM_001102575;NM_001145427;NM_052870 AAH60791;AAH67860;AAI17219;AAI17221;AAK82415;BAG65075;EAW54894;NP_001096045;NP_001138899;NP_443102;Q96RF0 Hs.432755;Hs.606166 1659648;2121610 RH65215;SHGC-64864 FLJ11997;FLJ32560;FLJ61062;MGC150827;MGC150829;SH3PX2;SH3PXD3B;SNAG1 OTTHUMP00000122476;OTTHUMP00000122477;SH3 and PX domain-containing protein 3B;sorting nexin associated golgi protein 1;sorting nexin-18;sorting nexin-associated Golgi protein 1 APPROVED protein-coding ENSG00000178996 19245 15407 REVIEWED 1314058 SNX15 sorting nexin 15 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010] 11 11 11 q12 62120841 62133975 + 64551486 64564620 + 64794880 64808044 + 1580863;6480464 11085978;16189514;15489334;14702039;12477932;11208079;11181995;9253601;8125298;16169070;20843780;12676568;15372247;16344560;22939629;18029348 29907 E5KQS5;E5KQS6;E9PK26;E9PMW6;E9PNI5;E9PR81;Q9NRS6 AB209439;ABBA01024137;ABBA01024138;AF001435;AF175267;AF175268;AK315034;AK315642;AMYH01003716;AP000436;AP003068;BC009897;BC012767;BC014520;BE547440;BE884806;BT006631;BX444780;CH471076;DA079695;HQ205586;HQ205587;HQ205588;HQ205589;HQ205590;HQ205591;HQ205592;HQ205593;HQ205594;HQ205595;HQ205596;HQ205597;HQ205598;HQ205599;HQ205600;HQ205601;HQ205602;HQ205603;HQ205604;HQ205605;HQ205606;HQ205607;HQ205608;HQ205609;HQ205610;HQ205611;HQ205612;HQ205613;HQ205614;HQ205615;HQ205616;HQ205617;HQ205618;HQ205619;HQ205620;HQ205621;HQ205622;HQ205623;HQ205624;HQ205625;NG_029947;NM_013306;NM_147777 AAB81205;AAF89955;AAF89956;AAH09897;AAH12767;AAH14520;AAP35277;ADP91254;ADP91255;ADP91256;ADP91257;ADP91258;ADP91259;ADP91260;ADP91261;ADP91262;ADP91263;ADP91264;ADP91265;ADP91266;ADP91267;ADP91268;ADP91269;ADP91270;ADP91271;ADP91272;ADP91273;ADP91274;ADP91275;ADP91276;ADP91277;ADP91278;ADP91279;ADP91280;ADP91281;ADP91282;ADP91283;ADP91284;ADP91285;ADP91286;ADP91287;ADP91288;ADP91289;ADP91290;ADP91291;ADP91292;ADP91293;ADP91294;ADP91295;ADP91296;ADP91297;ADP91298;ADP91299;ADP91300;ADP91301;ADP91302;ADP91303;ADP91304;ADP91305;ADP91306;ADP91307;ADP91308;ADP91309;ADP91310;ADP91311;ADP91312;ADP91313;ADP91314;ADP91315;ADP91316;ADP91317;ADP91318;ADP91319;ADP91320;ADP91321;ADP91322;ADP91323;ADP91324;ADP91325;ADP91326;ADP91327;ADP91328;ADP91329;ADP91330;ADP91331;ADP91332;ADP91333;BAD92676;BAG38009;EAW74334;EAW74336;EAW74337;NP_037438;NP_680086;Q9NRS6 Hs.80132 1664377;2155924;5015404;5015961 D11S4936;D15S1477;L17705;RH11499 HSAF001435 OTTHUMP00000035515;OTTHUMP00000230789;OTTHUMP00000230840;OTTHUMP00000230841;clone iota unknown protein;sorting nexin-15 APPROVED protein-coding ENSG00000110025 14978 12073 605964 REVIEWED 1315030 SNX17 sorting nexin 17 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012] 2 2 2 p23-p22 27440055 27446660 + 27446893 27453498 + 27593363 27600400 + 1580863;6480464 15231748;15121882;14739284;12665801;12477932;11485546;8125298;7584044;12169628;11237770;10942595;18276590;16712798;16052210;15815621;15769472;15489334;17474147;23115288;18029348;22747683;16344560;19005208;20226821;22151726;22492727;21139048;21890473;22505724 9784 B4DDM3;B4DQ37;B4DTB8;F8WAZ0;F8WEG6;F8WFA0;Q15036 ABBA01045203;AC074117;AJ404855;AK129689;AK222543;AK293252;AK293464;AK295278;AK297054;AK298620;AK298856;AK298869;AK300144;AK300641;AK307122;AK308487;AK309640;AK316373;AMYH01010195;BC002524;BC002610;BC014620;BC021108;BC032320;BC050590;BT007167;CH471053;CQ834622;CR457081;D31764;DB177194;NM_001267059;NM_001267060;NM_001267061;NM_014748;NR_049782;NR_049783;NR_049784;NR_049785;NR_049786;NR_049787;NR_049788 AAH02524;AAH02610;AAH14620;AAH50590;AAP35831;AAY14844;BAA06542;BAD96263;BAG56784;BAG56959;BAG58262;BAG59579;BAG60799;BAG60979;BAG60989;BAG61930;BAG62330;BAH14744;CAC12897;CAG33362;CAH05526;EAX00584;EAX00585;EAX00586;NP_001253988;NP_001253989;NP_001253990;NP_055563;Q15036 Hs.278569 1664351;1678733;1688979;2110131;2110135;2110137;2110139;2110143;2110147;2147203;2158404 D2S2598;RH25297;RH75415;RSA000987699;RSA000987708;RSA000987715;RSA000987719;RSA001081057;RSA001334633;WI-19785;WIAF-1573 KIAA0064 OTTHUMP00000123418;sorting nexin-17 APPROVED protein-coding ENSG00000115234 14979 05812 605963 REVIEWED 1604682 SNX19 sorting nexin 19 11 11 11 q25 127914643 127955264 - 130250976 130291592 - 130745766 130786382 - 6480464 16273344;19023099;18073581;17975119;16344560;15146197;12477932;12461558;11564866;9039502;19752551;19730683;16751776;21906983;19322201 399979 E7ERC7;E9PJV7;E9PKB9;E9PLV3;F5H5D1;Q92543 ABBA01023047;AF395843;AK292457;AK294731;AK295606;AK304809;AK308314;AK308628;AK309202;AK316414;AK316505;AL512699;AMYH01004130;AP000824;AP001093;BC031620;BU431333;BU623384;CB999595;CH471065;CN307729;D87443;DB098024;DN990954;DQ576434;NM_014758 AAH31620;AAK73124;BAA13384;BAF85146;BAG57878;BAG58492;BAG65559;BAH14785;BAH14876;CAC21700;EAW67794;NP_055573;Q92543 Hs.444024 1666690;1722499;2128495;2140017 A008P25;G60173;RH46872;RH69520 CHET8;DKFZp667I205;KIAA0254 OTTHUMP00000230657;OTTHUMP00000230660;OTTHUMP00000230661;sorting nexin-19 protein-coding ENSG00000120451 21532 18621 VALIDATED 5131798 SNX25P1 sorting nexin 25 pseudogene 1 1 1 184816955 184817867 + 211590367 211591279 + 100419028 ABBA01048192;AL590101;AMYH01001699;NG_027204 pseudo 41509 INFERRED 1604540 SNX20 sorting nexin 20 SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010] 16 16 16 q12.1 35215527 35230577 - 49264387 49272667 - 50700211 50715264 - 6480464 18196517;16782399;16189514;14702039;12477932;8586417;7835887;20018961;20379614;22412388 124460 Q7Z614 AA278249;ABBA01000868;AC007608;AK055837;AK292650;AK292705;AMYH01007663;AY302441;BC027944;BC063423;BC119626;CH471092;D20065;NM_001144972;NM_153337;NM_182854 AAH63423;AAI19627;AAI68369;AAP58362;BAF85339;BAF85394;EAW82763;NP_001138444;NP_699168;NP_878274;Q7Z614 Hs.715778 1335524;1666124;1684680;1697436;1789440;1789442;2134843;2144593;2148218;5126663 D16S3136;G67944;G67945;RH102218;RH68075;RH77862;RH98498;SGC34205;SHGC-17274;SHGC-31023 MGC35578;SLIC-1;SLIC1 OTTHUMP00000164226;OTTHUMP00000164227;selectin ligand interactor cytoplasmic 1;selectin ligand interactor cytoplasmic-1;selectin ligand-interactor cytoplasmic 1;sorting nexin-20 APPROVED protein-coding ENSG00000167208 30390 15401 613281 VALIDATED 1312835 SNX22 sorting nexin 22 The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] 15 15 15 q22.31 41322905 41328625 + 62230969 62236733 + 64443916 64449680 + 1580863;6480464 17400918;14702039;12477932;12461558;16189514;20811636 79856 Q8WUS9;Q96L94 ABBA01038899;ABBA01038900;AC100840;AK024014;AK126655;AL832838;AMYH01006707;AY044653;BC014660;BC019655;BC030225;BC036532;CH471082;CS185585;NG_033071;NM_024798;NR_073534 AAH19655;AAH30225;AAK98767;BAB14776;BAC86630;CAJ42766;EAW77667;EAW77668;NP_079074;Q96L94 Hs.744250 1682585;1699468;1778629;2127819;2171935;2191477;5015619;5015961;5016596;5020944;5024661;5024756;5037552 AF044685;D11S3114;D15S1174;D15S1477;D8S2279;GDB:631802;MARC_23668-23669:1029507689:1;RH103326;RH45047;RH80030;RH91503;RH98542;WI-9117 FLJ13952 OTTHUMP00000163918;sorting nexin-22 protein-coding ENSG00000157734 16315 15412 REVIEWED 1322486 SNX21 sorting nexin family member 21 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41172965 41182409 + 43895877 43905321 + 44462470 44471914 + 6480464 16344560;14702039;12477932;12461558;12459172;11780052;11736640;11485546;21832049 90203 Q05DJ0;Q5JZH3;Q5JZH4;Q8WY78;Q969T3 ABBA01052667;AF258570;AF395845;AF523834;AK091359;AK095851;AK226120;AK293443;AK297622;AL008726;AL591562;AMYH01011939;BC012904;BC019823;BM925584;CH471077;DA053179;NM_001042632;NM_001042633;NM_033421;NM_152897 AAG23773;AAH12904;AAH19823;AAK73126;AAM77915;ADZ15975;BAC03646;BAC04637;BAG56946;BAG59998;CAC39140;EAW75799;EAW75800;EAW75801;NP_001036097;NP_001036098;NP_219489;NP_690857;Q969T3 Hs.472854 2118627;2152180;2166601 D20S569E;RH12567;RH18291 C20orf161;MGC29895;PP3993;SNX-L;dJ337O18.4 OTTHUMP00000031179;OTTHUMP00000031180;OTTHUMP00000031181;OTTHUMP00000031182;OTTHUMP00000031183;chromosome 20 open reading frame 161;sorting nexin 21;sorting nexin L;sorting nexin-21 APPROVED protein-coding 16154 16641 REVIEWED 1320883 SNX25 sorting nexin 25 4 4 4 q35.1 183458214 183611271 + 186368278 186522114 + 186131284 186285120 + 6480464 17081983;14702039;12477932;12461558;21266196;22939629;21890473 83891 B3KTI8;H0Y9R5;Q9H3E2 ABBA01070528;ABBA01070529;ABBA01070530;ABBA01070531;AC073344;AF113223;AK026814;AK095661;AMYH01014773;AW968034;AY044656;AY601647;BC029868;BM554003;BX508898;CH471056;NM_031953 AAG39294;AAH29868;AAK98770;AAT98627;BAB15562;BAG53100;EAX04651;EAX04652;NP_114159;Q9H3E2 Hs.369091 1336854;1338203;1657674;1660106;1665155;1675557;1696748;1771878;2173580;7185729 A008Y25;AFM240XD10;D4S1540;D4S171;SHGC-35923;SHGC-50367;SHGC-67316;SHGC-77933;STS-H99959 FLJ23161;MSTP043;SBBI31 OTTHUMP00000218288;OTTHUMP00000218290;sorting nexin-25 protein-coding ENSG00000109762 21883 15414 VALIDATED 5131799 SNX2P1 sorting nexin 2 pseudogene 1 1 1 193600201 193600835 + 220380990 220381624 + 100418968 ABBA01048081;AL445435;AMYH01001742;NG_027207 pseudo 41514 INFERRED 6481550 SNX2P2 sorting nexin 2 pseudogene 2 7 31980874 31981193 + 100873785 AACC02000087;ABBA01056828;AC007033;AMYH01017153;NG_032371 pseudo 41515 INFERRED 1315725 SNX24 sorting nexin 24 5 5 5 q23.2 118135984 118299375 + 122209170 122372799 + 122181160 122344902 + 1580863;6480464 15489334;14702039;12975309;12477932;12461558;17207965;16169070;22863883;20360068;21900206 28966 A8MXB7;H0Y8V0;H0YA25;Q9Y343 ABBA01068947;ABBA01068948;ABBA01068949;AC008669;AC022116;AF139461;AK021473;AMYH01015587;AY044655;AY358098;BC010886;BC069012;BE673672;BQ278046;CH471086;DB498436;NM_014035 AAD32668;AAH10886;AAH69012;AAK98769;AAQ88465;ADQ32520;EAW48880;EAW48881;EAW48882;NP_054754;Q9Y343 Hs.483200 1716375;1847641;2109875;2129888;2172295 AFMB027ZG9;D5S1756;RH121367;RH65699;SNX24_9565 PRO1284;SBBI31 OTTHUMP00000159159;OTTHUMP00000159160;OTTHUMP00000223057;OTTHUMP00000223058;sorting nexin-24;sorting nexing 24 protein-coding ENSG00000064652 21533 15413 VALIDATED 1321108 SNX2 sorting nexin 2 This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013] 5 5 q23 122138649 122193702 + 122110750 122165803 + 1580863;6480464 11278302;9819414;11279102;17319803;17101778;16964243;16179610;15690390;15546961;15489334;15302935;14978220;14702039;14596906;12477932;11485546;11438682;11102511;8125298;15673616;20604901;22939629;18029348;21139048;21890473;21906983;21963094;21987572;22863883;17891154;18472259;21391972;21988832;23000965 6643 B3KN57;B4DEK4;D6RBT1;D6RC15;O60749 ABBA01068949;ABBA01068950;AC008669;AC093267;AF043453;AF065482;AK002170;AK023581;AK023716;AK026718;AK222968;AK293671;AK296596;AMYH01015587;AY272044;BC003382;BT009841;CH471086;NM_003100 AAB99852;AAC17181;AAH03382;AAP88843;AAQ02693;ABM81859;ABM85022;BAD96688;BAG51023;BAG51206;BAG51219;BAG57115;BAH12394;EAW48883;EAW48884;NP_003091;O60749 Hs.713554 1340461;2169656;2169658;2184387 D5S1975;RH46107;RH69353;SHGC-53714 MGC5204;TRG-9 OTTHUMP00000223062;OTTHUMP00000223063;sorting nexin-2;transformation-related gene 9 protein APPROVED protein-coding ENSG00000205302 11173 09332 605929 REVIEWED 1352523 SNX29P2 sorting nexin 29 pseudogene 2 16 16 16 p11.2 27293188 27314402 - 21265985 21304758 + 29313608 29376380 + 12477932;14702039 440352 D6RAV5;E9PDE2;Q8IUI4 ABBA01045666;ABBA01045667;AC025279;AK023827;AMYH01007493;AMYH01007494;BC024293;BX648280;NR_002939 BAB14692 Hs.658149 5014003;5014023;5015619;5015867;5015959;5016478;5020740;5022578;5024272;5037552;5109281 D10S2448;D11S3114;D13S1553;D17S1136;D1S1423;D1S1425;D2S1254;D8S2279;GDB:312714;GDB:434012;L17809 MGC52410;RUNDC2C APPROVED pseudo 31914 VALIDATED 1604256 SNX29 sorting nexin 29 16 16 16 p13.13-p13.12 12320697 12843213 + 12053556 12575647 + 12070602 12668146 + 6480464 16782399;14702039;12477932;10493829;8889548;15616553;19773279;22589738;23251661;23358160;22797925 92017 H3BPI1;H3BQF0;H3BT98;H7BXR5;J3KNF2;Q8TEQ0 ABBA01006840;ABBA01006841;ABBA01006842;ABBA01006843;ABBA01006844;ABBA01006845;ABBA01006846;ABBA01006847;ABBA01006848;ABBA01006849;ABBA01006850;ABBA01006851;AC007216;AC007598;AC007601;AC010333;AC092365;AC131391;AI369689;AK022425;AK024473;AK074072;AK097928;AL135642;AL137333;AMYH01007163;AMYH01007164;AMYH01007165;AMYH01007166;AMYH01007167;AMYH01007168;BC013346;BC029857;BM692924;BQ185857;BX648908;NM_032167;U95737 AAC31664;AAH29857;AAI56064;AAI72456;BAB14033;BAB15763;BAB84898;NP_115543;Q8TEQ0 Hs.458401 1336017;1337557;1338584;1342375;1647338;1647340;1652737;1658823;1676932;1682624;1682998;1696120;1696124;1705782;1714551;1734566;1738575;1763083;1764619;1764967;1766621;1769877;1772340;1774304;1852629;2117323;2117639;2147065;2153614;2159955;2172957;2173179;2183305;2187664;5015961;5022200 A005X12;AFMa134vc9;D15S1477;D16S2570E;D16S2662;D16S2737;D16S2970;D16S3047;D16S3069;D16S3075;D16S3102;D18S930E;G17889;G20567;L18426;RH119789;RH25185;RH66309;RH69796;RH92684;SHGC-146819;SHGC-148210;SHGC-148522;SHGC-149921;SHGC-17252;SHGC-31085;SHGC-60498;SHGC-60616;SHGC-60707;SHGC-60854;SHGC-6109;SHGC-61125;SHGC-78954;SHGC-78964;SHGC-78971;WI-13943 A-388D4.1;FLJ00143;FLJ12363;FLJ40609;RUNDC2A OTTHUMP00000160262;RUN domain containing 2A;RUN domain-containing protein 2A;similar to riken cdna 4933437k13;sorting nexin-29 protein-coding ENSG00000048471 30542 17437 VALIDATED 1349647 SNX27 sorting nexin family member 27 This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008] 1 1 q21.3 149851286 149938183 + 151584662 151671559 + 1580863;6480464 22411990;18690037;17828261;17577583;17351151;16710414;15466885;14702039;12477932;12461558;11485546;9455484;8889548;15121882;19555689;19615732;20379614;20733053;21300787;21303929;21602791;21988832;23000965;23563491;21926430;19322201;21139048;21890473;21906983;18029348;17644068 81609 H7C603;Q96D79 AB007957;ABBA01049402;ABBA01049403;AF060509;AJ009640;AK001395;AL391335;AL589765;AMYH01001391;AMYH01001392;AMYH01001393;AMYH01001394;AY044866;BC012184;BC051817;BC071825;BC100998;BC100999;BC101000;BC101822;BC101824;BC107862;BG472531;BM560557;BU676479;CB853160;CH471121;NM_030918 AAG43127;AAH12184;AAH51817;AAH71825;AAI00999;AAI01000;AAI01001;AAI01823;AAI01825;AAI07863;AAK97797;ADZ15676;BAE16986;EAW53423;EAW53424;EAW53425;EAW53426;EAW53427;EAW53428;NP_112180;Q96L92 Hs.192326 1643801;1772505;1799380;1800586;1800718;1804850;1805142;1806036;1806984;1810070;1812540;1813698;1814516;1814588;1815578;1815580;1816340;1817700;1819684;1821014;1822334;1822934;1824916;1827762;1829340;1831352;1831842;1831952;1832604;1833226;1833558;1834284;1835450;1836262;1837372;1838230;1840684;1842076;1843230;1843942;1844736;1846348;1851532;1928004;1928006;1928008;1928010;1928012;1928014;1928016;1928018;1928020;1928022;1928024;1928026;1928028;1928030;1928032;1928034;1928036;1928038;1928040;1928042;1928044;1928046;1928048;1928050;1928052;1928054;1928056;1928058;1928060;1928062;1928064;1928066;1928068;1928070;1928072;1928074;1928076;1928078;1928080;1928082;1928084;1928086;1928088;1928090;1928092;1928094;1928096;1928098;1928100;1928102;1928104;1928106;1928108;1928110;1928112;1928114;1928116;1928118;1928120;1928122;1928124;1928126;1928128;1928130;1928132;1928134;1928136;1928138;1928140;1928142;1928144;1928146;1928148;1928150;1928152;1928154;1928156;1928158;1928160;1928162;1928164;1928166;1928168;1928170;1928172;1928174;1928176;1928178;1928180;1928182;1928184;1928186;1928188;1928190;1928192;1928194;1928196;1928198;1928200;1928202;1928204;1928206;1928208;1928210;1928212;1928214;1928216;1928218;1928220;1928222;1928224;1928226;1928228;1928230;1928232;1928234;1928236;1928238;1928240;1928242;1928244;1928246;1928248;1928250;1928252;1928254;1928256;1928258;1928260;1928262;1928264;1928266;1928268;1928270;1928272;1928274;1928276;1928278;1928280;1928282;1928284;1928286;1928288;1928290;1928292;1928294;1928296;1928298;1928300;1928302;1928304;1928306;1928308;1928310;1928312;1928314;1928316;1928318;1928320;1928322;1928324;1928326;1928328;1928330;1928332;1928334;1928336;1928338;1928340;1928342;1928344;1928346;1928348;1928350;1928352;1928354;1928356;1928358;1928360;1928362;1928364;1928366;1928368;1928370;1928372;1928374;1928376;1928378;1928380;1928382;1928384;1928386;1928388;1928390;1928392;1928394;1928396;1928398;1928400;1928402;1928404;1928406;1928408;1928410;1928412;1928414;1928416;1928418;1928420;1928422;1928424;1928426;1928428;1928430;1928432;1928434;1928436;1928438;1928440;1928442;1928444;1928446;1928448;1928450;1928452;1928454;1928456;1928458;1928460;1928462;1928464;1928466;1928468;1928470;1928472;1928474;1928476;1928478;1928480;1928482;1928484;1928486;1928488;1928490;1928492;1928494;1928496;1928498;1928500;1928502;1928504;1928506;1928508;1928510;1928512;1928514;1928516;1928518;1928520;1928522;1928524;1928526;1928528;1928530;1928532;1928534;1928536;1928538;1928540;1928542;1928544;1928546;1928548;1928550;1928552;1928554;1928556;1928558;1928560;1928562;1928564;1928566;1928568;1928570;1928572;1928574;1928576;1928578;1928580;1928582;1928584;1928586;1928588;1928590;1928592;1928594;1928596;2138020;2161541;2207980;2207982;2207984;2207986;2207988;2207990;2207992;2207994;2207996;2207998;2208000;2208002;2208004;2208006;2208008;2208010;2208012;2208014;2208016;2208018;2208020;2208022;2208024;2208026;2208028;2208030;2208032;2208034;2208036;2208038;2208040;2208042;2208044;2208046;2208048;2208050;2208052;5014467;5016478;5491272 ECD00540;ECD01154;ECD01220;ECD03360;ECD03514;ECD03971;ECD04457;ECD06027;ECD07280;ECD07872;ECD08288;ECD08324;ECD08825;ECD08826;ECD09212;ECD09902;ECD10909;ECD11583;ECD12255;ECD12555;ECD13557;ECD15003;ECD15801;ECD16812;ECD17059;ECD17114;ECD17442;ECD17755;ECD17922;ECD18290;ECD18881;ECD19292;ECD19853;ECD20287;ECD21533;ECD22241;ECD22823;ECD23183;ECD23583;ECD24394;GDB:313557;GDB:434012;MARC_7153-7154:992008256:1;REN34828;REN34829;REN34830;REN34831;REN34832;REN34833;REN34834;REN34835;REN34836;REN34837;REN34838;REN34839;REN34840;REN34841;REN34842;REN34843;REN34844;REN34845;REN34846;REN34847;REN34848;REN34849;REN34850;REN34851;REN34852;REN34853;REN34854;REN34855;REN34856;REN34857;REN34858;REN34859;REN34860;REN34861;REN34862;REN34863;REN34864;REN34865;REN34866;REN34867;REN34868;REN34869;REN34870;REN34871;REN34872;REN34873;REN34874;REN34875;REN34876;REN34877;REN34878;REN34879;REN34880;REN34881;REN34882;REN34883;REN34884;REN34885;REN34886;REN34887;REN34888;REN34889;REN34890;REN34891;REN34892;REN34893;REN34894;REN34895;REN34896;REN34897;REN34898;REN34899;REN34900;REN34901;REN34902;REN34903;REN34904;REN34905;REN34906;REN34907;REN34908;REN34909;REN34910;REN34911;REN34912;REN34913;REN34914;REN34915;REN34916;REN34917;REN34918;REN34919;REN34920;REN34921;REN34922;REN34923;REN34924;REN34925;REN34926;REN34927;REN34928;REN34929;REN34930;REN34931;REN34932;REN34933;REN34934;REN34935;REN34936;REN34937;REN34938;REN34939;REN34940;REN34941;REN34942;REN34943;REN34944;REN34945;REN34946;REN34947;REN34948;REN34949;REN34950;REN34951;REN34952;REN34953;REN34954;REN34955;REN34956;REN34957;REN34958;REN34959;REN34960;REN34961;REN34962;REN34963;REN34964;REN34965;REN34966;REN34967;REN34968;REN34969;REN34970;REN34971;REN34973;REN34974;REN34975;REN34976;REN34977;REN34978;REN34979;REN34980;REN34981;REN34982;REN34983;REN34984;REN34985;REN34986;REN34987;REN34988;REN34989;REN34990;REN34991;REN34992;REN34993;REN34994;REN34995;REN34996;REN34997;REN34998;REN34999;REN35000;REN35001;REN35002;REN35003;REN35004;REN35005;REN35006;REN35007;REN35008;REN35009;REN35010;REN35011;REN35012;REN35013;REN35014;REN35015;REN35016;REN35017;REN35018;REN35019;REN35020;REN35021;REN35022;REN35023;REN35024;REN35025;REN35026;REN35027;REN35028;REN35029;REN35030;REN35031;REN35032;REN35033;REN35034;REN35035;REN35036;REN35037;REN35038;REN35039;REN35040;REN35041;REN35042;REN35043;REN35044;REN35045;REN35046;REN35047;REN35048;REN35049;REN35050;REN35051;REN35052;REN35053;REN35054;REN35055;REN35056;REN35057;REN35059;REN35060;REN35061;REN35062;REN35063;REN35064;REN35065;REN35066;REN35067;REN35068;REN35069;REN35070;REN35071;REN35072;REN35073;REN35074;REN35075;REN35076;REN35077;REN35078;REN35079;REN35080;REN35081;REN35082;REN35083;REN35084;REN35085;REN35086;REN35087;REN35088;REN35089;REN35090;REN35091;REN35092;REN35093;REN35094;REN35095;REN35096;REN35097;REN35098;REN35099;REN35100;REN35101;REN35102;REN35103;REN35104;REN35105;REN35106;REN35107;REN35108;REN35109;REN35110;REN35111;REN35112;REN35113;REN35114;REN35115;REN35116;REN35117;REN35118;REN35119;REN35120;REN35121;REN35122;REN35123;REN35124;REN35125;REN35126;RH11820;RH45420;RH64610;RH64656;SHGC-5606;stSG627328;stSG627329;stSG627330;stSG627332;stSG627333;stSG627334;stSG627335;stSG627336;stSG627337;stSG627338;stSG627339;stSG627340;stSG627341;stSG627342;stSG627343;stSG627344;stSG627345;stSG627346;stSG627347;stSG627348;stSG627352;stSG627353;stSG627354;stSG627355;stSG627356;stSG627357;stSG627359;stSG627360;stSG627361;stSG627362;stSG627363;stSG627364;stSG627365;stSG627366;stSG627367;stSG627368;stSG627369 KIAA0488;MGC126871;MGC126873;MGC20471;MRT1;MY014 OTTHUMP00000015250;OTTHUMP00000015251;OTTHUMP00000042487;methamphetamine-responsive transcript 1;sorting nexin-27 APPROVED protein-coding ENSG00000143376 20073 11591 611541 REVIEWED 7245353 SNX33P1 sorting nexin 33 pseudogene 1 100533624 ABBA01051127;AC004790;AMYH01009558;NG_028694 pseudo 48590 INFERRED 6481443 SNX3P1X sorting nexin 3 pseudogene 1, X-linked X 91770325 91770496 - 100873884 AL121869;AMYH01022686;NG_032372 pseudo 41516 INFERRED 6481448 SNX3P1Y sorting nexin 3 pseudogene 1, Y-linked Y 5502525 5502696 - 100873885 ABBA01069924;AC010081;NG_032373 pseudo 41517 INFERRED 1343949 SNX29P1 sorting nexin 29 pseudogene 1 16 16 p12.2 29210042 29293098 + 21360684 21397254 + 15489334;12477932;17207965;15616553;19690332 100652781 ABBA01157002;AC008740;AMYH01007348;BC041583;DR003051;NR_045011 AAH41583;ADQ32105;Q8IUI4 Hs.443656;Hs.658149 5020635;5109281 D1S1425;D7S3207 MGC52410;RUNDC2B;RUNDC2L RUN domain containing 2B;RUN domain-containing protein 2B;RUNDC2-like protein APPROVED pseudo 31913 VALIDATED 1601789 SNX30 sorting nexin family member 30 9 9 9 q32 86330021 86454125 - 114552955 114677088 + 115513134 115637267 + 6480464 14702039;12477932;20583170;21906983;22745667;16374509 401548 H0Y496;Q5VWJ9 AA401207;ABBA01042692;ABBA01042693;ABBA01042694;ABBA01042695;ABBA01042696;AK091599;AK092908;AK126644;AK127013;AK128080;AK128710;AK129991;AL139041;AL360235;AL390067;AMYH01021650;AMYH01021651;AMYH01021652;AMYH01021653;AMYH01021654;AMYH01021655;BC014914;BG699098;BX367137;CH878453;NM_001012994 EAW50549;NP_001013012;Q5VWJ9 Hs.522350 1653599;1682782;1701570;1786954;1849146;1849560;2171629;5015961;5022578 D15S1477;D1S1423;D9S1097;D9S1101;D9S1103;G33170;RH104418;RH99025;SHGC-143479 ATG24A;FLJ26481;FLJ34280;FLJ35589;FLJ44686;FLJ45069;FLJ46877 OTTHUMP00000021943;sorting nexin-30 protein-coding ENSG00000148158 23685 VALIDATED 5131748 SNX5P1 sorting nexin 5 pseudogene 1 4 4 4 q21.1 74565840 74567026 + 77469028 77485915 + 77265701 77266887 + 9847074 100131940 ABBA01063359;AC034139;AMYH01014314;NG_009130 pseudo 41512 INFERRED 1603261 SNX31 sorting nexin 31 8 8 8 q22.3 97770483 97847271 - 101654299 101731069 - 101585110 101661893 - 6480464 16782399;14702039;12516573;12477932;20379614 169166 E5RFI8;E5RJE9;E5RJK2;H0YBA9;Q8N9S9 ABBA01037578;ABBA01037579;ABBA01037580;ABBA01037581;AK093906;AMYH01018927;AMYH01018928;AP000424;AP001205;BC031260;BQ012274;CD106024;CH471060;NM_152628 AAH31260;BAC04249;EAW91812;EAW91813;NP_689841;Q8N9S9 Hs.567758 1704524;1721375;2121384;2136703;2162901 D8S1517;G31444;G59689;RH45797;SHGC-83048 MGC39715 OTTHUMP00000227308;OTTHUMP00000227309;sorting nexin-31 protein-coding ENSG00000174226 28605 17545 VALIDATED 5131807 SNX5P2 sorting nexin 5 pseudogene 2 12 12 12 q23.1 101125731 101129128 + 99984643 99987417 + 101460385 101463780 + 728467 ABBA01053247;AC063947;AMYH01004700;NG_009120 2159218 SHGC-64282 pseudo 41513 INFERRED 5131839 SNX6P1 sorting nexin 6 pseudogene 1 19 19 19 p12 23140238 23142197 - 23100389 23102546 - 23308643 23310602 - 126506 ABBA01051426;AC124856;AMYH01009651;NG_002348 pseudo 41511 INFERRED 1603528 SNX33 sorting nexin 33 15 15 15 q24.2 52866675 52876295 + 73728403 73738023 + 75941348 75950968 + 6480464 18419754;18353773;16782399;16374509;15302935;14702039;12477932;19487689;19718658;19807924;20964629;22718350 257364 B1NM17;H3BPR3;Q8WV41 ABBA01060538;AC105020;AK091291;AL833039;AMYH01006819;BC018775;CH471136;CS416523;EF219141;EF653821;NM_153271 AAH18775;ABM82621;ABM86137;ABN09670;ABV26009;ACE86418;ACE87094;CAH56299;CAL48182;EAW99243;NP_695003;Q8WV41 Hs.8705 1666113;2174922 RH77791;SGC34391 MGC32065;SH3PX3;SH3PXD3C;SNX30 OTTHUMP00000183519;SH3 and PX domain-containing protein 3;sorting nexin-33 protein-coding 28468 11331 PROVISIONAL 1605258 SNX32 sorting nexin 32 11 11 11 q13.1 62925320 62945078 + 65357986 65377748 + 65601410 65621172 + 6480464 16782399;15203218;14702039;12477932;17207965;21890473;23128233 254122 B4DS03;Q86XE0 ABBA01024098;AK055496;AK289587;AK293827;AK296055;AK299512;AK309435;AK309789;AL833261;AMYH01003727;AP001266;BC040981;BC045563;CD638068;CH471076;NM_152760 AAH40981;AAH45563;ADQ33031;BAB70935;BAF82276;BAG57231;BAG58818;BAG61465;EAW74441;EAW74442;EAW74443;EAW74444;EAW74445;EAW74446;EAW74447;NP_689973;Q86XE0 Hs.591950 2146547 RH48139 DKFZp761P1320;FLJ30934;MGC42112;MGC57276;SNX6B OTTHUMP00000158605;sorting nexin 6B;sorting nexin-32;sorting nexin-6B protein-coding ENSG00000172803 26423 08090 VALIDATED 1345268 SNX3 sorting nexin 3 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. [provided by RefSeq, Jul 2008] 6 6 q21 108639410 108689156 - 108532717 108582464 - 1580863;6480464 17474147;17622474;9819414;11279102;18978678;18767904;17655765;17081983;16964243;15489334;14574404;12665801;12477932;12471201;11433298;18632802;16169070;15673616;20482551;20634891;22990118;22939629;19471022;22159558;21139048;21890473;21906983;19322201;19738201;21963094;22623428;23000965;23237080;22673115;22505724;23383273 8724 Q5JXJ8 AB047360;ABBA01026153;ABBA01026154;AF034546;AF062483;AK289476;AL078596;AMYH01016576;AV704272;BC008444;BC014580;BC015179;BC016863;BG497532;BT007114;CH471051;CR456898;DB502691;NG_023278;NM_003795;NM_152827;Z98742 AAC16018;AAC16040;AAH08444;AAH14580;AAH15179;AAH16863;AAP35778;ACE86730;ACE87416;BAB32649;BAF82165;CAG33179;EAW48378;EAW48379;EAW48380;EAW48381;EAW48382;EAW48383;EAW48384;NP_003786;NP_690040;O60493 Hs.12102 1686168;1739327;1798396;1801052;1803436;1803438;1804006;1805152;1805308;1809880;1813280;1815050;1816730;1818052;1821698;1823984;1827100;1829924;1830514;1832102;1833108;1833412;1833898;1835720;1835878;1836852;1837226;1837434;1838452;1839492;1839756;1840356;1841304;1841590;1842170;1842302;1843440;1843778;1843872;1844422;1845044;1845396;1846524;1958070;1958072;1958074;1958076;1958078;1958080;1958082;1958084;1958086;1958088;1958090;1958092;1958094;1958096;1958098;1958100;1958102;1958104;1958106;1958108;1958110;1958112;1958114;1958116;1958118;1958120;1958122;1958124;1958126;1958128;1958130;1958132;1958134;1958136;1958138;1958140;1958142;1958144;1958146;1958148;1958150;1958152;1958154;1958156;1958158;1958160;1958162;1958164;1958166;1958168;1958170;1958172;1958174;1958176;1958178;1958180;1958182;1958184;1958186;1958188;1958190;1958192;1958194;1958196;1958198;1958200;1958202;1958204;1958206;1958208;1958210;1958212;1958214;1958216;1958218;1958220;1958222;1958224;1958226;1958228;1958230;1958232;1958234;1958236;1958238;1958240;1958242;1958244;1958246;1958248;1958250;1958252;1958254;1958256;1958258;1958260;1958262;1958264;1958266;1958268;1958270;1958272;1958274;1958276;1958278;1958280;1958282;1958284;1958286;1958288;1958290;1958292;1958294;1958296;1958298;1958300;1958302;1958304;1958306;1958308;1958310;1958312;1958314;1958316;1958318;1958320;1958322;1958324;1958326;1958328;1958330;1958332;1958334;1958336;1958338;1958340;1958342;1958344;1958346;1958348;1958350;1958352;1958354;1958356;1958358;1958360;1958362;1958364;1958366;1958368;1958370;1958372;1958374;1958376;1958378;1958380;1958382;1958384;1958386;1958388;1958390;1958392;1958394;1958396;1958398;1958400;1958402;1958404;1958406;1958408;1958410;1958412;1958414;1958416;1958418;1958420;1958422;1958424;1958426;1958428;1958430;1958432;1958434;1958436;1958438;1958440;1958442;1958444;1958446;1958448;1958450;1958452;1958454;1958456;1958458;1958460;1958462;1958464;1958466;1958468;1958470;1958472;1958474;1958476;1958478;1958480;1958482;1958484;1958486;1958488;1958490;1958492;1958494;1958496;2126799;2148934;2212952;2212954;2212956;2212958;2212960;2212962;2212964;2212966;2212968;2212970;2212972;2212974;2212976;2212978;2212980;2212982;2212984;2212986;2212988;2212990;2212992;2212994;2212996;2212998;2213000;2213002;2213004;2213006;2213008;2213010;2213012;2213014;2213016;2213018;2213020;2213022;2213024 A004X47;D4S2772E;D6S1250;ECD00034;ECD01394;ECD02615;ECD02616;ECD02918;ECD03519;ECD03601;ECD05932;ECD07660;ECD08557;ECD09409;ECD10082;ECD11935;ECD13088;ECD14665;ECD16095;ECD16392;ECD17189;ECD17696;ECD17849;ECD18095;ECD19017;ECD19100;ECD19590;ECD19780;ECD19884;ECD20400;ECD20928;ECD21061;ECD21363;ECD21848;ECD21992;ECD22288;ECD22354;ECD22929;ECD23100;ECD23147;ECD23425;ECD23739;ECD23915;ECD24483;REN49902;REN49903;REN49904;REN49905;REN49906;REN49907;REN49908;REN49909;REN49910;REN49911;REN49912;REN49913;REN49914;REN49915;REN49916;REN49917;REN49918;REN49919;REN49920;REN49921;REN49922;REN49923;REN49924;REN49925;REN49926;REN49927;REN49928;REN49929;REN49930;REN49931;REN49932;REN49933;REN49934;REN49935;REN49936;REN49937;REN49938;REN49939;REN49940;REN49941;REN49942;REN49943;REN49944;REN49945;REN49946;REN49947;REN49948;REN49949;REN49950;REN49951;REN49952;REN49953;REN49954;REN49955;REN49956;REN49957;REN49958;REN49959;REN49960;REN49961;REN49962;REN49963;REN49964;REN49965;REN49966;REN49967;REN49968;REN49969;REN49970;REN49971;REN49972;REN49973;REN49974;REN49975;REN49976;REN49977;REN49978;REN49979;REN49980;REN49981;REN49982;REN49983;REN49984;REN49985;REN49986;REN49987;REN49988;REN49989;REN49990;REN49991;REN49992;REN49993;REN49994;REN49995;REN49996;REN49997;REN49998;REN49999;REN50000;REN50001;REN50002;REN50003;REN50004;REN50005;REN50006;REN50007;REN50008;REN50009;REN50010;REN50011;REN50012;REN50013;REN50014;REN50015;REN50016;REN50017;REN50018;REN50019;REN50020;REN50021;REN50022;REN50023;REN50024;REN50025;REN50026;REN50027;REN50028;REN50029;REN50030;REN50031;REN50032;REN50033;REN50034;REN50035;REN50036;REN50037;REN50038;REN50039;REN50040;REN50041;REN50042;REN50043;REN50044;REN50045;REN50046;REN50047;REN50048;REN50049;REN50050;REN50051;REN50052;REN50053;REN50054;REN50055;REN50056;REN50057;REN50058;REN50059;REN50060;REN50061;REN50062;REN50063;REN50064;REN50065;REN50066;REN50067;REN50068;REN50069;REN50070;REN50071;REN50072;REN50073;REN50074;REN50075;REN50076;REN50077;REN50078;REN50079;REN50080;REN50081;REN50082;REN50083;REN50084;REN50085;REN50086;REN50087;REN50088;REN50089;REN50090;REN50091;REN50092;REN50093;REN50094;REN50095;REN50096;REN50097;REN50098;REN50099;REN50100;REN50101;REN50102;REN50103;REN50104;REN50105;REN50106;REN50107;REN50108;REN50109;REN50110;REN50111;REN50112;REN50113;REN50114;REN50115;RH91822;stSG634201;stSG634202;stSG634203;stSG634204;stSG634205;stSG634206;stSG634207;stSG634208;stSG634209;stSG634210;stSG634211;stSG634212;stSG634213;stSG634214;stSG634215;stSG634216;stSG634217;stSG634218;stSG634219;stSG634221;stSG634223;stSG634224;stSG634225;stSG634226;stSG634227;stSG634228;stSG634229;stSG634230;stSG634231;stSG634232;stSG634233;stSG634234;stSG634235;stSG634236;stSG634237;stSG634238;stSG634240 Grd19;MCOPS8;MGC17570;SDP3 OTTHUMP00000016941;OTTHUMP00000046475;OTTHUMP00000046476;sorting nexin 3A;sorting nexin-3 APPROVED protein-coding ENSG00000112335 11174 09333 605930 REVIEWED 1320273 SNX4 sorting nexin 4 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012] 3 3 3 q21.2 123575104 123648748 - 126648184 126721748 - 125165494 125239058 - 1580863;6480464 11278302;9819414;11279102;17994011;17319803;15489334;14702039;12668730;12477932;21145461;16169070;19529763;20379614;22939629;21973056;21139048;21890473;21906983;16344560;22505724 8723 B4DQV4;F8W9T3;F8WDD4;O95219 ABBA01016419;ABBA01016420;ABBA01016421;AC080096;AC117487;AF065485;AF130078;AI187416;AK001835;AK298972;AMYH01013442;AMYH01013443;BC018762;BI669801;CH471052;DA289870;NM_003794;NR_073435 AAC83149;AAG35504;AAH18762;ABM83057;ABM86251;BAG50982;BAG61066;EAW79390;EAW79391;EAW79392;EAW79393;NP_003785;O95219 Hs.507243 1652158;1699554;2169750;5022765 D3S4226;RH103376;SHGC-77294;SNX4 ATG24B OTTHUMP00000215866;sorting nexin-4 APPROVED protein-coding ENSG00000114520 11175 09334 605931 REVIEWED 1312208 SNX6 sorting nexin 6 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q13.1 14894794 14963537 - 34100369 34169117 - 35030618 35099366 - 1580863;6480464 11278302;11279102;17148574;14702039;12477932;11591366;11485546;18523162;19322201;16713569;16730713;17043677;19935774;20354142;20830743;22863883;22990118;22939629;21139048;21890473;21906983;15840729;18029348;22505724 58533 B4DJS7;G3V2U1;G3V4Z5;G3V589;G3V5U2;G3V5X9;H0YJF8;Q9UNH7 ABBA01061465;ABBA01061466;ABBA01061467;ABBA01061468;ABBA01061469;ABBA01061470;ABBA01061471;ABBA01061472;AF109364;AF121856;AK021456;AK124315;AK292250;AK296213;AK308464;AL445363;AL445883;AMYH01005660;AMYH01005661;BC001798;BG722853;BI870378;CH471078;NM_021249;NM_152233;U83194 AAD24202;AAD27829;AAH01798;AAQ13512;ADZ15697;BAF84939;BAG51034;BAG58939;EAW65913;EAW65914;EAW65915;EAW65916;EAW65917;EAW65918;NP_067072;NP_689419;Q9UNH7 Hs.356647 1662546;1687874;1773613;1857408;2117906;2123267;2156969;2157960;2166638;2191663;7187532 D14S1170;D14S665E;D14S827;G35755;G35892;G35904;G36182;MARC_4171-4172:996679463:3;RH44760;RH81064 MGC3157;MSTP010;TFAF2 OTTHUMP00000178808;OTTHUMP00000178809;TRAF4-associated factor 2;sorting nexin-6;tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2 APPROVED protein-coding ENSG00000129515 14970 12086 606098 REVIEWED 1313530 SNX7 sorting nexin 7 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010] 1 1 1 p21.3 97381135 97479949 + 98899801 98998644 + 99127236 99226056 + 1580863;6480464 16189514;15489334;12477932;12461558;11485546;8125298;16130112;17474147;20203127;21900206;21873549;21988832;23259602 51375 B4DP69;B7ZC83;E9PLE1;E9PNL2;Q96FW9 ABBA01045462;ABBA01045463;AF121857;AK025031;AK223229;AK293018;AK298211;AL049989;AL548028;AL627442;AMYH01000820;BC010349;BC018105;BI856196;BT006747;CH471097;NM_015976;NM_152238;NR_033716 AAD27830;AAH10349;AAH18105;AAP35393;ADZ16069;BAD96949;BAF85707;BAG60481;CAB43229;EAW72995;EAW72996;EAW72997;EAW72998;NP_057060;NP_689424;Q9UNH6 Hs.197015 1692790;1693180;1698496;1725539;1775447;2158112;2219702 AL034039;AL034316;RH102798;RH119168;SHGC-75195;SHGC-75196;SNX7__5472 DKFZp564F052;MGC8717 OTTHUMP00000012432;OTTHUMP00000236198;sorting nexin-7 APPROVED protein-coding ENSG00000162627 14971 15416 614904 REVIEWED 1320945 SNX5 sorting nexin 5 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein binds to fanconi anemia complementation group A protein, but its function is unknown. This gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 20 20 20 p11 17996791 18024035 - 17870244 17897490 - 17922244 17949490 - 1580863;6480464 18596235;17148574;15561769;15489334;15133132;14702039;12477932;11780052;11485546;10600472;8125298;16169070;16857196;19204726;18854019;22863883;22939629;21900206;21139048;21890473;21906983;21988832;22486813;23000965;23195037;23602387;22505724 27131 Q5QPE4;Q5QPE5;Q9Y5X3 ABBA01054034;AF121855;AK001793;AK026227;AK054634;AK123903;AK129505;AK223308;AK296947;AK308017;AL121585;AL832967;AMYH01011740;BC000100;BC002724;BC062638;BC093623;BC093980;BC143274;BT007191;CH471133;NM_014426;NM_152227 AAD27828;AAH62638;AAH93623;AAH93980;AAI43275;AAP35855;BAA91914;BAD97028;BAG53980;BAH12462;EAX10263;EAX10264;EAX10265;EAX10266;EAX10267;EAX10268;NP_055241;NP_689413;Q9Y5X3 Hs.316890 1675965;1678339;1694242;1790189;2119738;2119740;2159218;2159961;5014051;5015619;5021872;5022200;5022651;5037552;5124567 A005K08;AA851347;AL035224;D11S2921;D11S3114;D20S550E;D8S2278;D8S2279;G20280;L18426;RH36045;RH38955;RH94213;SHGC-64282;sY3084 FLJ10931 OTTHUMP00000030340;OTTHUMP00000062927;OTTHUMP00000062929;sorting nexin-5 APPROVED protein-coding ENSG00000089006 14969 10439 605937 REVIEWED 1314037 SNX8 sorting nexin 8 7 7 7 p22.3 2264329 2323538 - 2261164 2320625 - 2291405 2354099 - 1580863;6480464 17474147;15489334;12690205;12477932;12461558;11485546;19782049;22939629;21973056;20889312;21139048;21906983;22688191 29886 C9IYC5;C9J014;C9J271;C9J8E6;C9JCB9;Q9Y5X2 AACC02000053;ABBA01039362;ABBA01039363;ABBA01039364;ABBA01039365;AC004971;AF121858;AK074544;AK315670;AL713633;AMYH01016968;BC007785;BC014395;BC021565;CH236953;CH471144;NM_013321 AAD27831;AAH07785;AAH21565;ABM83434;ABM86648;BAG38035;EAL23950;EAW87235;NP_037453;Q9Y5X2 Hs.584900 DKFZp761E1721;Mvp1 OTTHUMP00000200137;sorting nexin-8 protein-coding ENSG00000106266 14972 11592 614905 VALIDATED 6768907 SOCS2-AS1 SOCS2 antisense RNA 1 12 q22 93959404 93965174 - 14702039 144481 ABBA01053373;ABBA01053374;AC012085;AC025260;AK054607;AMYH01004660;NR_038263 Hs.602278;Hs.733244 1679894 RH98660 APPROVED miscrna ENSG00000246985 27054 VALIDATED 1352978 SOCS2P1 suppressor of cytokine signaling 2 pseudogene 1 20 20 20 q11.21 28529088 28529989 + 31238758 31239859 + 31775198 31776099 + 276719 ABBA01019238;AL121901;AMYH01011853;NG_002411 pseudo 16069 INFERRED 1349432 SOCS2P2 suppressor of cytokine signaling 2 pseudogene 2 22 22 22 q11.2 6341834 6343468 - 20854349 20855988 - 22524349 22525988 - 9074928 266701 ABBA01055082;AMYH01012639;D87000;NG_000002 pseudo 19330 VALIDATED 1353452 SNX9 sorting nexin 9 This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013] 6 6 q25.1-q26 158164282 158286097 + 158244294 158366109 + 1580863;6480464 11799118;14679214;15231747;18940612;18682798;18388313;18065239;17948057;17609109;17242350;16903783;16585770;16316319;16137687;15703209;15489334;15299020;14702039;14574404;12952949;12477932;11879186;11485546;10531379;21145461;20491914;16374509;19807924;20129922;20379614;20088948;20964629;16344560;19092055;21139048;21890473;21906983;22586326;22745667;16964398;17110338;21963094;22718350 51429 B3KXH8;Q9Y5X1 AB209736;ABBA01021106;AF001629;AF076957;AF121859;AF131214;AF172847;AF190158;AJ420452;AJ420512;AK026637;AK127345;AK314360;AL035634;AL139330;AL391863;AMYH01016779;BC001084;BC005022;BG766499;CH471051;DA315945;DA336311;NM_016224 AAD00898;AAD27832;AAD43001;AAF04473;AAH01084;AAH05022;AAL54871;AAQ13702;ABM84226;ABM87788;BAD92973;BAG36992;BAG54490;EAW47668;EAW47669;NP_057308;Q9Y5X1 Hs.191213 1670601;1682553;1683203;1754159;1848241;2139020;2172386;2185522;5014865;5022200;5022651 D11S2921;D12S1332;L18426;RH15827;RH18342;RH26809;RH92174;SHGC-132189;STS-AA010032;STS-R69163;WI-19319 MST155;MSTP155;SDP1;SH3PX1;SH3PXD3A;WISP OTTHUMP00000017492;SH3 and PX domain-containing protein 1;SH3 and PX domain-containing protein 3A;SH3 and PX domain-containing protein SH3PX1;Wiskott-Aldrich syndrome protein (WASP) interactor protein;sorting nexin-9 APPROVED protein-coding ENSG00000130340 14973 12072 605952 REVIEWED 731038 SOAT1 sterol O-acyltransferase 1 The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011] 1 1 q25 177529640 177591076 + 179262849 179327815 + 1300048;730139;1580863;6480464 11967026 10438503;16647063;15308631;8407899;11401500;9756919;15353128;18971559;17412327;18269457;17622762;17593314;16763159;16474185;16230498;16154994;16043284;16013913;15992359;15850387;15768051;15489334;15319423;15253151;15219857;14729857;12851640;12533546;12477932;11483630;11353332;10623671;10196189;9756920;8197480;3335499;19913121;20628086;19502590;20031551;22939629;21239516;21266192;21143839;21139048;21890473;21906983;21987572;21803834;2738092;21044950;22505724 6646 B1APM4;B4DFD8;P35610 ABBA01027814;ABBA01027815;AK026611;AK290659;AK294047;AK300551;AK310920;AK316401;AL355806;AL451075;AL512326;AL833625;AMYH01001530;AMYH01001531;BC028940;BQ182606;CH471067;DC344271;L21934;NG_030638;NM_001252511;NM_001252512;NM_003101;NR_045530 AAC37532;AAH28940;ABM82733;ABM85917;BAF83348;BAG57399;BAG62257;BAH14772;EAW91043;EAW91044;NP_001239440;NP_001239441;NP_003092;P35610 Hs.445588 1665879;1671595;1714145;1767923;2108939;2116638;2149197;5015404;5015861;5015961;5037552;5491756;7185938 D10S16;D15S1477;D1S1814E;D1S3424;D8S2279;G29235;L17705;RH119681;SHGC-75995;SOAT1;SOAT1__5281.2;WI-9273 ACACT;ACAT;ACAT-1;ACAT1;RP11-215I23.2;SOAT;STAT ACAT-1;OTTHUMP00000033188;acyl-Coenzyme A: cholesterol acyltransferase;acyl-coenzyme A:cholesterol acyltransferase 1;cholesterol acyltransferase 1;sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1;sterol O-acyltransferase 1 APPROVED protein-coding ENSG00000057252 11177 00033 102642 REVIEWED 730963 SOAT2 sterol O-acyltransferase 2 Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 12 12 q13.13 51783541 51804590 + 53497274 53518323 + 1581189;1581190;1581191;1556516;1625282;1601112;1581921;625687;1580863;730139;6480464 15486318;16274362;15242859;11100118;17431188;16195894;14557872;12217884;11967026 16647063;9756920;14615411;15308631;11401500;15451793;18676680;17303779;16331323;16230498;15992359;15961790;14729857;12808042;12621162;12477932;11325614;11294643;11071899;11042153;10846185;9756919;9242919;8650549;15782160;19170196;19625176;19692168;19878569;19913121;20628086 8435 F5H7W4;F8VPE9;O75908 ABBA01008314;AC073573;AF059203;AF099031;AF331516;AF332857;AF332858;AMYH01004477;BC096090;BC096091;BC096092;BC099626;CH471054;NM_003578 AAC63998;AAC78335;AAH96090;AAH96091;AAH96092;AAH99626;AAK18275;AAK48829;EAW96665;NP_003569;O75908 Hs.656544 1646170;1657477;1671891;1747719;2219704 D12S2110;G64238;SOAT2__5282;STS-W84340;WI-11660 ACACT2;ACAT2;ARGP2;MGC116732 ACAT-2;OTTHUMP00000242062;acyl Co-A: cholesterol acyltransferase 2;acyl coenzyme A:cholesterol acyltransferase 2;acyl-CoA:cholesterol acyltransferase 2;acyl-coenzyme A:cholesterol acyltransferase 2;cholesterol acyltransferase 2;sterol O-acyltransferase 2 APPROVED protein-coding ENSG00000167780 11178 03202 601311 REVIEWED 7175182 SOCS5P1 suppressor of cytokine signaling 5 pseudogene 1 7 85846101 85847043 - 100420754 AACC02000015;ABBA01045877;AC006374;AMYH01017665;CH236949;NG_026489 pseudo 44597 INFERRED 7175921 SOCS5P2 suppressor of cytokine signaling 5 pseudogene 2 9 q34.3 138339292 138341643 + 100128299 ABBA01030035;AL161452;AMYH01021838;NG_021679 1720359;1786896 RH123930;SHGC-106105 pseudo 44598 INFERRED 7175198 SOCS5P3 suppressor of cytokine signaling 5 pseudogene 3 3 p21.31 44750803 44752378 - 100127945 ABBA01024737;AC124045;AMYH01013123;NG_022203 pseudo 44599 INFERRED 7175947 SOCS5P4 suppressor of cytokine signaling 5 pseudogene 4 X q13.1 70263064 70265320 - 100132415 ABBA01067654;AL590764;AMYH01022533;NG_028788 pseudo 44600 INFERRED 7176201 SOCS5P5 suppressor of cytokine signaling 5 pseudogene 5 6 q21 113543368 113545271 + 643884 ABBA01026072;AL049695;AL162720;AMYH01016603;NG_022369 pseudo 44601 INFERRED 1347441 SOCS1 suppressor of cytokine signaling 1 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008] 16 16 p13.13 11255775 11257540 - 11348274 11350039 - 1625125;1580863;2298920;2298909;2298918;2298903;2298906;2298907;2298899;2298924;634751;2290486;2298904;1625677;2298923;6480464;6484113;6907045 17010638;11027633;12888825;16377761;17522834;16242928;15361843;18381452;12644450;11312157;16458425;16878360;15240880;15169905 16082380;15850793;15688010;15589317;15545275;15522878;15456882;15386345;15373779;15240148;15235874;15198092;15197228;15166476;15121754;15074307;15021916;14976049;14762685;14634100;14630083;14614901;14614012;14522994;12900355;12865927;12759928;12601549;12485838;12477932;12470648;12456503;12228220;12163560;12163497;12080466;12077274;12076535;12070153;11971965;11907070;11889171;11854514;11835308;11696536;11553846;11445538;11384984;11297560;11208867;11133764;10585430;10517496;10512686;10490100;9727029;9202125;9202126;19419769;19342366;19327355;19287004;19240061;19215277;19164812;19047140;19017994;18987746;18971287;18820827;18815196;18801363;18725457;18656467;18639978;18556463;18551144;18538318;18440067;18355908;18250407;18203295;18172216;18035697;17888401;17867599;17652621;17589943;17438093;17315216;17264307;17230231;17099141;17001312;16984412;16943387;16815301;16628196;16532038;16498413;16432158;16421738;16415872;16410555;16407264;16287070;10064597;10051596;10022833;9341160;9266833;7796808;16429138;17898043;11713228;10455112;9344848;11342531;22257840;11314018;17276034;17974915;18508766;10707961;20433750;19000444;17083795;20648401;21079688;20299783;20423643;20596075;20689596;19913121;20145416;20406299;20588308;20628086;20724312;14690596;14968112;17183367;18199397;19135225;19423540;19482358;19515423;19542368;19543316;19551406;19561639;19592492;19595407;19617348;19622834;19727727;19734231;19734449;19846529;19915063;20005840;20064913;20164024;20190752;20331378;20354188;20395963;20398276;20406964;20438785;20538233;20372794;20934424;20883163;20622265;20633028;21337543;21263070;21084693;20840058;21234523;21291295;21385099;21795592;18928596;21355095;23568457;23152563;23237992;23001011;21622562;20137421;21119685;21653641;21757742;21802214;21190606;21734367;21368418;21899704;21724255;22488585;22951153;23111066;23134344;23164156;23285955;22482804;21716315;22025331;21935712;16273093;23375208;23469018;10747851;18776134;21685897;22487676;22739986;23089475;22994783;23151489;23128233;22095154;22787435;22587677;19802344;21841072;22004035;22363329;22670716;22745793;23320781 8651 O15524;Q4JHT5 AB000676;AB000734;AB005043;ABBA01006810;AC009121;AF132440;AK127621;AMYH01007152;BC029307;CH471112;DQ086801;FB571467;HI573982;NM_003745;U88326;Z46940 AAB62401;AAD27709;AAI48543;AAI53089;AAY87931;BAA21537;BAA22431;BAA23521;BAG54535;CAB92528;CAR95151;CBX47480;EAW85163;NP_003736;O15524 Hs.50640 1681628;1793832;5493495 PMC298718P1;RH91351;UniSTS:486896 CIS1;CISH1;JAB;SOCS-1;SSI-1;SSI1;TIP3 JAK binding protein;JAK-binding protein;OTTHUMP00000160221;STAT induced SH3 protein 1;STAT-induced STAT inhibitor 1;TIP-3;Tec-interacting protein 3;cytokine-inducible SH2 protein 1;suppressor of cytokine signaling 1 2315775 GLUCO145_H APPROVED protein-coding ENSG00000185338 19383 04669 603597 REVIEWED 1605982 SOBP sine oculis binding protein homolog (Drosophila) The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011] 6 6 6 q21 108559766 108731020 + 107918010 108089206 + 107811317 107982513 + 6480464;7240710 12477932;14702039;8889548;16169070;20379614;21035105;21900206;23086935 55084 A7XYQ1;Q24K27 ABBA01026167;ABBA01026168;ABBA01026169;AK090879;AL096816;AL121957;AL671934;AMYH01016571;AMYH01016572;BC014859;BC091526;BC113966;BM684094;BX442875;CH471051;DQ507800;NG_028200;NM_018013 A7XYQ1;AAH91526;AAI13967;ABF72848;BAC03537;EAW48397;EAW48398;EAW48399;NP_060483 Hs.445244 1341977;1654813;1710164;1740097;1752883;2116843;2162417;2174863;2185728 D6S1537;D6S1635;RH18478;RH36033;RH47900;RH47967;SGC32903;SHGC-106830;SHGC-82344 FLJ10159;JXC1;MRAMS OTTHUMP00000198925;jackson circler protein 1;sine oculis-binding protein homolog APPROVED protein-coding 29256 07650 613667;613671 REVIEWED 1352815 SOCS2 suppressor of cytokine signaling 2 This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 12 12 q 92487729 92494109 + 93963598 93970521 + 1580863;2298924;2298909;2298902;2298907;2298926;2298928;2298925;6480464;6484113;6907045 12644450;12888825;17651480;15361843;15159323;11723173;16707422 11835308;9266833;9344848;12135564;9727029;11781573;12552091;19279332;19266077;19258923;18820827;18769447;18391952;18391951;17703412;17666591;17325857;17264307;17008382;16684815;16675548;16406727;16199887;16189514;16097082;15489334;12477932;12076535;11889171;11861294;11034314;10890450;10585430;10512686;10455112;10453981;9202403;16344560;22291912;15644415;17898043;18844680;19159283;19423540;19779605;20136974;20237496;20406964;20438785;20503287;20802378;21048031;19913121;20546612;20628086;20543098;16961462;21844389;21980433;22768656;18508766;20881960;21145461;21988832;23449627;23548639;23567159;21234523;22745742 8835 F8VRV3;F8VS53;F8VU91;O14508 AB004903;AB006966;AB451318;ABBA01053372;ABBA01053373;ABBA01053374;ABBA01053375;AC012085;AF020590;AF037989;AF132441;AI129818;AK290546;AK297662;AK309452;AK313165;AL522912;AMYH01004660;BC010399;BC070039;BJ996504;CD699665;CH471054;DA490057;DA709082;DB054162;DB481261;DC300183;NM_001270467;NM_001270468;NM_001270469;NM_001270470;NM_001270471;NM_003877 AAC34745;AAC98896;AAD27710;AAH10399;BAA22429;BAA22536;BAF83235;BAG35983;BAG60027;BAG70132;EAW97492;EAW97493;NP_001257396;NP_001257397;NP_001257398;NP_001257399;NP_001257400;NP_003868;O14508 Hs.485572;Hs.594327;Hs.736572;Hs.737206 1675870;1690956;1793834;2113578;2124291 D12S2130;PMC298718P2;RH80947;RH99191;SOCS2_V159 CIS2;Cish2;SOCS-2;SSI-2;SSI2;STATI2 CIS-2;OTTHUMP00000243097;STAT induced STAT inhibitor-2;STAT-induced STAT inhibitor 2;STAT-induced STAT inhibitor-2;cytokine-inducible SH2 protein 2;suppressor of cytokine signaling 2;suppressor of cytokine signaling-2 APPROVED protein-coding ENSG00000120833 19382 05490 605117 REVIEWED 7241101 SOD1P2 superoxide dismutase 1, soluble pseudogene 2 100652974 ABBA01000861;AC009166;AMYH01007666;NG_032733 pseudo 45135 INFERRED 1346055 SOCS5 suppressor of cytokine signaling 5 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008] 2 2 p21 46779603 46843431 + 46926099 46989927 + 1580863;1357941;6480464;6484113;6907045 14607831 11837794;10773671;16210657;15590694;15489334;14707129;12477932;12242343;12076535;11835308;11553846;11230166;9734811;9419338;21145461;14968112;15695332;20802378;21048031;23314748;21685187;22773185;21832049;20137421;22081311;22423360;20881960 9655 O75159 AB014571;ABBA01075140;ABBA01075141;ABBA01075142;ABBA01075143;AC020604;AF073958;AI433294;AK290194;AL136896;AMYH01010318;AMYH01010319;BC032862;CH471053;NM_014011;NM_144949 AAD40484;AAH32862;AAY24289;ABM82139;ABM85322;BAA31646;BAF82883;CAB66830;EAX00235;EAX00236;EAX00237;NP_054730;NP_659198;O75159 Hs.468426 1644325;1756877;1796856;2156148;2173050;5093328 A009L30;G32655;RH69691;RH69870;SHGC-144045;SOCS5_1721 CIS6;CISH6;Cish5;KIAA0671;SOCS-5 CIS-6;OTTHUMP00000159072;OTTHUMP00000200252;cytokine-inducible SH2 protein 6;cytokine-inducible SH2-containing protein 5;suppressor of cytokine signaling 5 APPROVED protein-coding ENSG00000171150 16852 06159 607094 REVIEWED 7241984 SOD2P1 superoxide dismutase 2, mitochondrial pseudogene 1 100421046 ABBA01045414;AC093150;AMYH01000835;NG_026965 pseudo 45268 INFERRED 1315155 SOCS4 suppressor of cytokine signaling 4 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 35543338 35565701 + 54563594 54585960 + 55493844 55516207 + 1357941;1580863;2303397;6480464;6907045 14607831;17880360 17997974;15590694;15489334;14702039;12477932;12076535;10500304;19423540;20406964;20438785;20486857;17207965;20433750;22127425;22423360;21145461 122809 Q5H9R6;Q8WXH5 ABBA01018200;ABBA01018201;AF424815;AK056685;AK124083;AK126195;AK127299;AL139316;AL160471;AL352982;AMYH01005744;BC060790;BX161418;BX648734;CD109883;CH471061;CR933659;NM_080867;NM_199421 AAH60790;AAL60517;ADQ32995;BAG54001;CAD61893;CAI45958;EAW80655;NP_543143;NP_955453;Q8WXH5 Hs.744302 2136727;2156959;5093890;5492787;5493995 A009Y22;G32984;RH68698;UniSTS:480684;UniSTS:482558 DKFZp686J1568;SOCS7 OTTHUMP00000179008;OTTHUMP00000244923;SH2 domain containing SOCS box protein;SOCS-4;SOCS-7;suppressor of cytokine signaling 4;suppressor of cytokine signaling 7 APPROVED protein-coding ENSG00000180008 19392 18084 REVIEWED 730833 SOCS3 suppressor of cytokine signaling 3 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008] 17 17 q25.3 73864454 73867753 - 76352859 76356158 - 1625125;1625684;1625677;625688;1625683;1625676;632385;1625688;730264;1580863;1357935;2313788;2313787;2313790;2298909;2298924;2298920;2298901;2313789;634751;2298899;2298923;2298904;6480464;6484113;6907045 17010638;16507131;15240880;12217886;17405912;16920065;12437578;14614901;12392283;12039028;17513737;17562326;15331532;12888825;12644450;11027633;18097573;17295835;11312157;18381452;15169905;16878360 21173340;20484656;20433750;12560330;12477932;12459551;12403768;12351404;12228220;12198248;12182826;12163560;12133942;12076535;12070153;12027890;11970967;11889171;11867182;11786421;11727828;11713228;11481489;11331873;11279517;11076863;11071852;11034314;11018044;10946280;10882725;10837055;10585430;10490101;10421843;10051596;9344848;9266833;19258923;19225535;19164812;19129540;19115200;19083014;19077438;19052638;19036437;19027008;18989459;18986700;18971287;18952062;18941624;18820827;18815196;18770864;18752121;18687693;18660489;18656467;18636124;18571793;18538318;18507841;18440067;18250407;18240972;18055217;18045952;17935223;17895321;17881539;17703412;17668875;17636039;17589943;17530721;17445271;17438093;17374732;17363902;17325857;17297444;17273770;17264307;17241887;17148681;17138568;17001312;16943387;16914720;16831601;16822822;16805839;16709613;16685656;16568091;16543409;16381901;16410555;16402267;16374465;16344560;16210657;16055089;16007195;16007169;15939448;15629435;15618960;15607366;15589317;15489336;15489334;15385932;15361843;15308667;15300962;15249995;15240148;15217536;15163721;15070676;14617776;14559241;12847520;12783885;12688541;12654831;12626585;12565872;21029588;22425648;16169070;20067961;20478455;20504769;20631305;17083795;16407264;20689596;20231901;20351777;20155426;20335309;20588308;20690084;10373548;10707961;15213237;15514089;16199887;17605868;18199397;18414649;18549612;19229050;19231005;19423540;19524687;19543316;19592492;19595407;19617629;19634073;19643162;19737863;19803812;19913854;19951849;20005910;20130595;20136974;20237496;20375166;20398276;20406964;20438785;20468064;20503287;20372794;20934424;20717995;21042758;21263153;21337543;21481788;20840058;10777583;21275162;22957141;21832049;22848642;22574771;22576756;22739025;15601820;23028842;21451109;21325601;21239736;21490101;21354254;21478033;21545585;23033269;21308719;21547863;21734367;21360047;21590492;22084247;22342841;20137421;21765854;18031698;21385272;21900206;22093833;21190606;21898505;22951153;23111066;23164156;23185530;23816468;23824571;23360921;23430705;22768656;21934357;22075701;20673263;21876460;21892197;22260693;22294695;21685897;22487676;22547065;22575502;22266116;22311708;22532676;22488585;23133602;23154639;23302305;11314018;17135358;17974915;22591635;22739986;23046072;23274199;23320781;23335796;21963094;21988832;23375208;23226414;23392112;23432547;23454976;23030674;23108375;21234523;22613986;22787435;22632162;22745793;22820139;22925925;23152563;22587677 9021 K7EIF6;O14543;Q6FI39 AB004904;AB006967;ABBA01002927;ABBA01002928;AC061992;AF159854;AK309756;AK314212;AMYH01008668;AU134017;BC060858;BE048635;BE245649;BT019544;CH471099;CR536497;CR541694;DA671124;NG_016851;NM_003955 AAD42231;AAH60858;AAV38351;BAA22430;BAA22537;BAG36886;CAG38736;CAG46495;CAL37774;CAL38024;CAL38368;EAW89521;EAW89522;NP_003946;O14543 Hs.527973;Hs.703620 1299971;1698746;1792340;1793770;1793836;1793838;1796854;7187054 D17S784;PMC148819P2;PMC283558P1;PMC298718P3;PMC298718P4;RH102936;SOCS3_1736 ATOD4;CIS3;Cish3;MGC71791;SOCS-3;SSI-3;SSI3 CIS-3;STAT-induced STAT inhibitor 3;cytokine-induced SH2 protein 3;cytokine-inducible SH2 protein 3;suppressor of cytokine signaling 3 APPROVED protein-coding ENSG00000184557 19391 05006 604176 REVIEWED 1312180 SOCS6 suppressor of cytokine signaling 6 The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008] 18 18 q22.2 66107117 66148414 + 67956137 67997434 + 1625125;1580863;1357941;6480464 17010638;14607831 9344848;18204098;17603019;17210122;16643902;15761153;14707129;14702039;12477932;12076535;12052866;11342531;11042152;21145461;19913121;20628086;21048031;21030588;19646809;19716864;20007709;20379614;22952242;22081311;21906983;22363434 9306 J3KTM7;O14544 AB006968;ABBA01056291;ABBA01056292;ABBA01056293;AC023395;AF161545;AK024356;AMYH01009077;AMYH01009078;BC020082;CH471117;NM_004232 AAF29032;AAH20082;BAA22538;EAW66522;EAW66523;EAW66524;NP_004223;O14544 Hs.44439 1656920;1682131;1717315;1726749;1798212;2114118;5021696 AB060232;G62762;RH122148;RH94380;SOCS6_2453;STS-N33129;ksks24 CIS-4;CIS4;HSPC060;SOCS-4;SOCS-6;SOCS4;SSI4;STAI4;STATI4 CIS-4;OTTHUMP00000163710;SOCS-4;SOCS-6;STAT induced STAT inhibitor-4;cytokine-inducible SH2 protein 4;suppressor of cytokine signaling 4;suppressor of cytokine signaling 6 APPROVED protein-coding ENSG00000170677 16833 05491 605118 REVIEWED 5133089 SOGA2P1 SOGA family member 2 pseudogene 1 13 13 q21.33 52400329 52400919 + 71497791 71499742 + 20125088 100288130 ABBA01050323;AL391123;AMYH01005196;NG_029110 CCDC165P1 coiled-coil domain containing 165 pseudogene 1;uncharacterized protein KIAA0802-like APPROVED pseudo 42040 INFERRED 1317076 SOCS7 suppressor of cytokine signaling 7 17 17 q12 33761531 33809545 + 36508007 36561846 + 1625125;1580863;1357941;6480464;6907045 17010638;14607831 9419338;9344857;17803907;16625196;16127460;15677474;15489334;15242778;14702039;14644140;12477932;12076535;12052866;11837794;10969179;21145461;20357037;20433750;23535730;16751776;18029348;22213096;23392170 30837 J3KSN6;J9JID8;O14512 AA233668;AB005216;ABBA01031927;ABBA01031928;AC115992;AC124789;AC183084;AI223248;AK094338;AMYH01008362;AW613025;BC121030;BC121031;BC128607;CH471152;DQ593634;NM_014598 AAI28608;AAI67822;BAA22432;EAW60512;NP_055413;O14512 Hs.514132 2123013;2123015;5015959;5024761;5037554 A005S24;D10S2448;D8S2282;G20462;RH36905 NAP4;NCKAP4 NAP-4;NCK-associated protein 4;Nck, Ash and phospholipase C binding protein;SOCS-7;nck, Ash and phospholipase C gamma-binding protein;suppressor of cytokine signaling 7 protein-coding 29846 12299 608788 VALIDATED 1348438 SOGA2 SOGA family member 2 18 18 18 p11.22 8601536 8716876 + 8707369 8822074 + 8717369 8832775 + 737633;6480464 12477932 18649358;17081983;16964243;16565220;16177791;15489334;14702039;14676191;9872452;19615732;19156129;20360068 23255 J3QL92;J3QLE1;Q9Y4B5 AB018345;ABBA01049936;AK131528;AMYH01008800;AMYH01008801;AP000864;AP001531;BC040542;BX648455;BX648911;NM_015210 AAH40542;BAA34522;BAD18666;NP_056025;Q9Y4B5 Hs.707920 1646561;1668455;1734592;1772607;1851761;2140747;2157057;2157518;5092820;5108006 A002T11;A006G39;D18S841;D18S922E;D18S944E;G32350;HSC10F012;NIB1243;RH18416;STS-Z41106 CCDC165;KIAA0802 OTTHUMP00000162348;OTTHUMP00000162349;OTTHUMP00000227037;coiled-coil domain containing 165;coiled-coil domain-containing protein 165;hypothetical protein LOC23255;protein SOGA2 APPROVED protein-coding ENSG00000168502 29121 11110 PROVISIONAL 1347447 SOGA3 SOGA family member 3 6 6 6 q22.33 128501795 128582743 - 127813023 127879540 - 127759551 127840500 - 6480464 19505873;14702039;14574404;12477932 387104 A5PLQ8;E9PJP2;Q5TF21 ABBA01025931;AK091416;AK096490;AK309423;AL583806;AMYH01016656;BC020441;BC127760;BC143043;BC143044;BE552225;BE779627;CH471051;DC377915;NM_001012279 AAI27761;AAI43044;AAI43045;AAI56254;AAI57035;EAW48100;NP_001012279;Q5TF21 Hs.319247 1643899;1653424;1723819;1750461;1774689;2118325;2121678;2143572;2147177;2149428;2184493;5021872;5022578 D1S1423;RH118646;RH37401;RH46655;RH46738;RH47312;RH65429;SHGC-111767;SHGC-30315;SHGC-34704;STS-F04688;WI-15819;sY3084 C6orf174;dJ403A15.3 OTTHUMP00000232099;hypothetical protein LOC387104;protein SOGA3;uncharacterized protein C6orf174 APPROVED protein-coding ENSG00000214338;ENSG00000255330 21494 16661 VALIDATED 730855 SOD1 superoxide dismutase 1, soluble The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008] 21 21 q22.11 31953806 31963115 + 33031935 33041244 + 737689;1580846;1600704;1600708;1581192;1581207;1581213;1581214;1581216;1581220;1581221;1581222;1581223;1581228;1581229;1581230;1581232;1580863;1580834;1300048;1581209;1580833;2312361;2312367;2303613;2312364;2312362;2312363;2312365;2312366;2317410;1358244;6480464;6484113;6907045;7240710 8446170;12458889;17198913;16338763;16254550;16844785;16055286;16248885;16005359;15890620;15843790;11864929;16877401;15531919;16291929;16540901;16864745;15364863;16583367;16716903;19470681;18947433;18626730;18423055;19324844;19317795;17914031;19403858;12499913;15337829 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6647 H7BYH4;Q6NR85 ABBA01057293;AK312116;AMYH01012198;AP000253;AP000254;AV756797;AY049787;AY450286;AY835629;BC001034;BT006676;CA448539;CH471079;CR450355;CR541742;EF143990;EF151142;HH772807;L44139;L44746;L46374;L46375;NG_008689;NM_000454;W17182;X01780;X01781;X01782;X01783;X01784;X02317;X95228 AAB05661;AAB05662;AAB59626;AAB59627;AAC41773;AAH01034;AAL15444;AAP35322;AAR21563;AAV80422;ABL96474;ABL96616;BAG35052;CAA25915;CAA25916;CAA25917;CAA25918;CAA25919;CAA26182;CAA64520;CAG29351;CAG46542;CBX86766;EAX09889;EAX09890;NP_000445;P00441 Hs.443914 1668164;1679976;1741657;1741791;1741793;1742141;1743843;1744473;1745415;1745419;1745421;1745423;1754525;1791706;1793810;1793812;1794528;1854799;2113698;2125642;2142346;2191579;5020838 A006F27;G20764;G34694;GDB:181632;GDB:185170;GDB:185171;GDB:192323;GDB:374780;GDB:455467;GDB:607616;GDB:607623;GDB:607626;GDB:607629;MARC_26673-26674:1036188363:1;PMC122237P1;PMC291829P1;PMC291829P2;PMC316779P1;RH80185;SHGC-132804;SHGC-6902;SHGC-87564;SOD1 ALS;ALS1;IPOA;SOD;hSod1;homodimer Cu/Zn superoxide dismutase;OTTHUMP00000107278;OTTHUMP00000107279;SOD, soluble;indophenoloxidase A;superoxide dismutase;superoxide dismutase 1;superoxide dismutase [Cu-Zn];superoxide dismutase, cystolic APPROVED protein-coding ENSG00000142168 11179 00937 105400;147450 REVIEWED 1606708 SONP1 SON pseudogene 1 1 1 1 q23.1 130749967 130752456 + 155945410 155947899 + 157678786 157681275 + 8503959 148300 ABBA01016637;AL356276;AMYH01001443;NG_001549;X63754;X71604 1716161;1743447;1813600;2029434;2029624;2134799 ECD07823;GDB:335409;REN85723;REN85818;RH121103;SHGC-87574 pseudo 30608 INFERRED 1605184 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 9 9 9 q34.3 109103027 109109205 - 137725074 137731195 - 138585253 138591374 - 6480464 16690745;16344560;12477932;20506135 402381 Q5JUK2 ABBA01030041;AL158822;AMYH01021843;AY884306;AY902244;BC031861;CH471090;DB307692;DB339952;EB710265;NM_001012415;NM_001101677 AAH31861;AAW78548;AAW82617;EAW88174;EAW88175;EAW88176;NP_001012415;NP_001095147;Q5JUK2 Hs.120464 1701422 RH104343 C9orf157;NOHLH;SPATA27;TEB2;bA100C15.3;bHLHe80 OTTHUMP00000022556;newborn ovary helix loop helix;spermatogenesis associated 27;spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 protein-coding ENSG00000165643 27845 16678 610224 VALIDATED 736515 SOD3 superoxide dismutase 3, extracellular This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the dismutation of two superoxide radicals into hydrogen peroxide and oxygen. The product of this gene is thought to protect the brain, lungs, and other tissues from oxidative stress. The protein is secreted into the extracellular space and forms a glycosylated homotetramer that is anchored to the extracellular matrix (ECM) and cell surfaces through an interaction with heparan sulfate proteoglycan and collagen. A fraction of the protein is cleaved near the C-terminus before secretion to generate circulating tetramers that do not interact with the ECM. [provided by RefSeq, Jul 2008] 4 4 p15.2 24406183 24411565 + 24797085 24802467 + 1581225;1581230;1581232;1581254;1581264;1581265;1581266;1581268;1581270;1581277;1581298;1581299;1580852;1580841;1580853;1581095;1625698;1580863;1579965;1580843;1580845;1580842;2312361;6480464 15990193;16540901;16864745;12815947;15778274;15375030;11880297;16842247;16399992;16100289;12663605;12830380;10833313;14592844;10811593;11779401;15171689;16014615;16840738;12600899;14662715;19470681 14975589;8034674;19526392;19505917;19423521;19390575;19318538;19289127;19242068;19213780;19200140;19108943;19016244;18977241;18971527;18948423;18726685;18720901;18703790;18682580;18676680;18599502;18385137;18314536;18165226;17937792;17717013;17679946;17646272;17601350;17296902;17070542;17023265;16899934;16809550;16611809;16469315;16467073;16344560;16335952;15899505;15761197;15528465;15489334;15166009;15044467;14736885;14704872;14619883;12477932;12475988;12126755;12052468;11861638;11299047;10329680;8889548;8864862;8694786;8546689;7959763;7662997;6541229;3476950;2276747;2106874;1505778;1477980;15869407;16792821;15223067;21080077;21781513;21077177;20514411;19913121;20079429;20485444;20628086;20673035;20673868;20600835;20226522;20576801;20800603;20966810;19170196;19423540;19488773;19495415;19533864;19625176;19636420;19692168;19705749;19789190;19811392;19933216;19948975;20237496;20406964;20438785;20452482;20477822;21077778;22958044;21362472;21641397;21493784;21621610;21554548;22313459;22217996;21351093;22064654;21957979;23620962;23377640;22432908;23241403;18160848;22836756;22816678;23160801;23027624 6649 M0R1V4;P08294 ABBA01032684;AC006390;AK313935;AMYH01014065;AY787834;BC014418;BI757365;BM677660;CH471069;CR541853;DA668533;J02947;NG_012213;NM_003102;S71544;U10116 AAA62278;AAA66000;AAB31336;AAH14418;AAV40827;ABM83012;ABM86206;BAG36654;CAG46651;EAW92823;NP_003093;P08294 Hs.2420 EC-SOD;MGC20077 OTTHUMP00000158715;extracellular superoxide dismutase;extracellular superoxide dismutase [Cu-Zn];superoxide dismutase 3 APPROVED protein-coding ENSG00000109610 11181 01708 185490 REVIEWED 730872 SOD2 superoxide dismutase 2, mitochondrial This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 6 6 q25.3 160020138 160034343 - 160100148 160114353 - 1581148;1581214;1581220;1581222;1581231;1581233;1581234;1581235;1581236;1581237;1581238;1581239;1581240;1581241;1581242;1581243;1581244;1581245;1581246;1581247;1581248;1581249;1581250;1581251;1581252;1581253;1581254;1581255;1581256;1581257;1581258;1581259;1581260;1581262;1580836;1580837;1580838;1579972;1625694;1625699;1582141;1625695;1580833;1580840;1580863;2312364;2317411;2317382;2317410;2317403;2317406;6480464;7175518;7175536;7175539;7175540;6907045;7240710 14575298;16248885;15890620;11864929;15743779;15681709;15454275;12700280;16485861;16423340;15908783;16179351;15883815;15887859;15869407;15734485;15512801;15094225;15337840;15213518;15168344;14611903;12960753;14687717;12880680;12946273;12815947;12469139;12447859;11837748;11836586;15087276;11677043;8790408;15591282;10425186;12732398;16369462;11477087;17196988;15612529;10212301;16716903;2313102;18423055;19891634;12499913;17785574;18205184;21060756;19458120;17974967;17192491 17353931;14980699;17251466;9393747;19528373;19526139;19505917;19493484;19474327;19428448;19423521;19420105;19405048;19385967;19368118;19339270;19339246;19336475;19306099;19302750;19265433;19262996;19254215;19242068;19219857;19213780;19167605;19157724;19156168;19151739;19124506;19100713;19074885;19074884;19074833;19064542;19016244;19012493;18989629;18987137;18977241;18977034;18930811;18930810;18845242;18834346;18829510;18829485;18790709;18784358;18784066;18775420;18760346;18720901;18689799;18683149;18682580;18676870;18676680;18653258;18646267;18636124;18582155;18573360;18571701;18569577;18553161;18490963;18469277;18466086;18460737;18434620;18413745;18396798;18387669;18373354;18327668;18305395;18296681;18291700;18258609;18247479;18180754;18167310;18167182;18095014;18057537;18044968;18023606;17967822;17965603;17936883;17922231;17879532;17822322;17719580;17693525;17653087;17652337;17646272;17634480;17628794;17617122;17616699;17601350;17588204;17582511;17577737;17575500;17567676;17548864;17548672;17491681;17473980;17465268;17459574;17453961;17449559;17409931;17400324;17376152;17340208;17336594;17331249;17299970;17299255;17296902;17293864;17291655;17290392;17277236;17217237;17211829;17188257;17186424;17171548;17149600;17145829;17142144;17085785;17055157;17018785;17005595;16969494;16966488;16966185;16956909;16956821;16945136;16933053;16868544;16859522;16847469;16819819;16807759;16780879;16780268;16769586;16740634;16630148;16626843;16543247;16540901;16538174;16510607;16475114;16467073;16458347;16424062;16381901;16324912;16281056;16215873;16206227;16170370;16166634;16157826;16148556;16107721;16084535;16076760;16047490;16006997;15952740;15951095;15933380;15923250;15894290;15878096;15838728;15817612;15809720;15781667;15774926;15767364;15765450;15743756;15734083;15706661;15705913;15701646;15673194;15621215;15610954;15598343;15589819;15581626;15535847;15534883;15512788;15489336;15489334;15455371;15386537;15345661;15338334;15331175;15330761;15308628;15266664;15247771;15217492;15196853;15184255;15166009;15131792;15088300;15087454;15075214;14744747;14729580;14704872;14702039;14688256;14643949;14638684;14578853;14574404;14515147;14503839;12963120;12948282;12829021;12711112;12684509;12683635;12673575;12644569;12627943;12624725;12590982;12551919;12540612;12517793;12477932;12239572;12161520;12127599;12126755;12078513;12063011;12032830;11977425;11912930;11912921;11853549;11849743;11756571;11721640;11719088;11580280;11481695;11350569;11323405;11299047;11124296;11076863;10852710;10748080;10393559;9882443;9537988;9537987;9484232;9462746;9150946;9110146;8889548;8806673;8633092;8605177;8395050;7895732;7859743;7702755;7498159;12592389;7493016;6386798;3684581;3399391;2831093;2738919;2462451;1988135;1699607;1427917;1394426;752518;14975589;16792821;15223067;16169070;22261313;22318606;22119635;21781513;22580338;22547077;22710435;21434856;21130430;21167124;20578157;20206302;20514411;19913121;20301895;20485444;20567899;20598694;20627099;20628086;20643115;20644561;20673159;20712757;20728955;20802415;22688013;10511315;123234;18583979;18821846;18930813;18996183;19064571;19170196;19228881;19293328;19376215;19423540;19451660;19467856;19509150;19521720;19533864;19538885;19558795;19622717;19623544;19625176;19628492;19628738;19636420;19641337;19647296;19666009;19692168;19696404;19706356;19712751;19715479;19731237;19752172;19753309;19754948;19755112;19756960;19778569;19787204;19789190;19834686;19847642;19863340;19880028;19896490;19900038;19902052;19917371;19929244;19946932;19948975;19958503;20003469;20012093;20041472;20043000;20052533;20056743;20061391;20082261;20082738;20082851;20086011;20089851;20097730;20109103;20139358;20144705;20150532;20170971;20204285;20204772;20206073;20214802;20237496;20309628;20346360;20346996;20357718;20378690;20406964;20416077;20437850;20438785;20441054;20444272;20459474;20461808;20477822;20478627;20501330;20534900;20536280;20233853;21268071;20107204;20137347;20734807;20851292;20877624;20878976;20931825;20966810;21052528;21053180;21056286;21062213;21072184;17549794;20714737;21131394;19955594;20417703;20690800;20226522;20833513;20872977;20538313;20649542;20863520;20143154;20618948;20856861;21181397;21056653;20598578;21434422;21069346;22958044;22829583;22537351;23033381;21419216;21566644;21574139;21527182;19949914;20000738;21725155;20638682;22171130;21223689;21829032;22009531;21536589;21727734;22699057;22983815;23111423;23167810;21139048;21890473;23219743;21741706;21773993;22089180;22108257;22170599;21351093;21553226;21804600;21619840;22386763;22070905;22206979;21756849;22167619;22302046;22330623;22561997;22705344;22348527;23620962;23138846;23237540;22738689;23030347;23142385;23649652;21988832;22516022;23000965;22704671;22972774;22432908;23221071;21619820;21832049;22517484;22939629;22825700;22429591;22710948;21904836;23056314;18160848;22218650 6648 B3KUK2;B4E3K9;F5GXZ9;F5GYZ5;F5H3C5;F5H4R2;G5E9P6;G8JLJ2;Q9P2Z3 ABBA01021065;ABBA01021066;AK296809;AK304766;AK313082;AL050388;AL135914;AL691784;AMYH01016802;AY267901;AY280718;AY280719;AY280720;AY280721;BC001980;BC012423;BC016934;BC035422;BG699596;BM994509;BT006967;BU164685;BU741675;CH471051;D83493;DQ003134;L34157;M36693;NG_008729;NM_000636;NM_001024465;NM_001024466;S77127;X07834;X14322;X15132;X59445;X65965;Y00472;Y00985 AAA36622;AAA83933;AAD14248;AAH12423;AAH16934;AAP03428;AAP34407;AAP34408;AAP34409;AAP34410;AAP35613;AAY21807;ABM84678;ABM92204;BAA18955;BAG35908;BAG59382;BAG65521;CAA30687;CAA32502;CAA33228;CAA42066;CAA68533;CAA68791;CAB62521;CAL37714;EAW47629;EAW47630;EAW47631;NP_000627;NP_001019636;NP_001019637;P04179 Hs.487046 1674376;1768571;1776281;2161331;2162818;2218046 D6S1335;D6S1419;RH16462;SHGC-34268;SOD2_3060;STS-W78148 IPO-B;IPOB;MNSOD;MVCD6;Mn-SOD Mn superoxide dismutase;OTTHUMP00000017530;OTTHUMP00000017531;OTTHUMP00000238884;OTTHUMP00000238886;OTTHUMP00000238887;indophenoloxidase B;manganese-containing superoxide dismutase;mangano-superoxide dismutase;superoxide dismutase [Mn], mitochondrial APPROVED protein-coding ENSG00000112096 11180 00938 147460;612634 REVIEWED 1603036 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 13 13 13 q13.3 17809516 17855920 - 35640354 35686676 - 36742345 36788752 - 6480464 16344560;16189514;14702039;12477932;19834535;22566634 54937 Q9NX45 ABBA01021363;AI368806;AK000456;AL160392;AMYH01005038;AY884305;BC025383;CH471075;DB022954;NM_017826 AAH25383;AAW78547;BAA91175;EAX08552;EAX08554;EAX08555;EAX08556;NP_060296;Q9NX45 Hs.124519 FLJ20449;FLJ57222;SPATA28;TEB1;bHLHe81 OTTHUMP00000018247;OTTHUMP00000221747;spermatogenesis associated 28;spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 protein-coding ENSG00000120669 26026 07910 VALIDATED 1352015 SOGA1 suppressor of glucose, autophagy associated 1 20 20 20 q11.23 32113367 32199596 - 34839259 34921690 - 35405845 35492087 - 6480464 15489334;15302935;14702039;14676191;12477932;11780052;10737800;10048485;20813965;20936779;22586326;20360068;21139048;21890473;21906983 140710 H0YDM2;I3L0I1;O94964 AB020696;ABBA01006589;ABBA01006590;ABBA01006591;ABBA01006592;ABBA01006593;ABBA01006594;AK022023;AK057056;AK094762;AK126630;AK131491;AL079335;AL132768;AL391602;AL833153;AL935080;AMYH01011885;AMYH01011886;AW450158;BC113405;BC113433;BF944938;BK007092;BM464536;BQ027014;CH471077;NM_080627;NM_199181 AAI13406;AAI13434;AAI48415;BAA74912;BAB13954;BAC86621;BAG54771;DAA34786;EAW76094;EAW76095;EAW76096;EAW76097;EAW76098;EAW76099;EAW76100;NP_542194;NP_954650;O94964 Hs.460807 1667569;1678073;2115462;2172158;2172160;5014039;5016478;5020414;5022578;5037552 A005W08;D1S1423;D20S622;D22S1584;D8S2279;G20546;GDB:434012;L17688;RH98788;SHGC-57358 C20orf117;FLJ44670;KIAA0889;SOGA;dJ132F21.1 OTTHUMP00000030870;OTTHUMP00000178800;SOGA family member 1;hypothetical protein LOC140710;protein SOGA1;suppressor of glucose by autophagy;suppressor of glucose from autophagy;suppressor of glucose, autophagy-associated protein 1;uncharacterized protein KIAA0889 APPROVED protein-coding ENSG00000149639 16111 11116;13493;18553 VALIDATED 1319118 SON SON DNA binding protein This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 21 21 q22.11 33837220 33871682 + 34915350 34949812 + 1580863;6480464 10950926;10830953;8031013;17353931;10509013;18952841;17081983;16964243;16916647;16565220;15324660;15302935;15231748;14759258;14702039;14637006;12477932;11782456;11707072;11306577;10470851;8318737;3054499;1944255;1435774;1435773;1424986;20053686;21551269;18029348;20581448;21504830;22939629;22354994;22586326;19471022;19596686;21139048;21890473;22234250;22193954;21963094;23000965;23084401;23322776;23383273;20081832;23752268;22505724 6651 H7C1M2;H7C1S4;H7C257;H7C2G8;J3QSZ5;O95981 AB028942;ABBA01057351;AF139897;AF161428;AF161430;AF380179;AF380180;AF380181;AF380182;AF380183;AF380184;AF435977;AK024752;AK074269;AK091233;AK127947;AK128071;AK307612;AMYH01012211;AP000303;AP000304;AY026895;BC002422;BC005337;BC017278;BC029455;BC046101;BC054029;BC066303;BC104656;BF197677;BM998625;CH471079;M36428;NM_032195;NM_138927;NR_103796;NR_103797;NR_103798;X63071;X63751;X63753 AAA36624;AAD50078;AAF28988;AAF28990;AAH02422;AAH05337;AAH29455;AAI04657;AAK07692;AAL30810;AAL34497;AAL34498;AAL34499;AAL34500;AAL34501;AAL34502;BAA82971;BAB14985;BAC87202;BAG52313;CAA44793;CAA45282;CAC69885;EAX09814;EAX09815;EAX09816;EAX09817;EAX09818;EAX09819;EAX09820;EAX09821;EAX09822;EAX09823;EAX09824;NP_115571;NP_620305;P18583 Hs.517262 1340572;1650297;1650299;1653026;1663310;1695632;1734322;1743447;1759871;1768996;1798400;1798524;1798972;1799970;1800182;1801434;1801568;1801636;1802902;1803390;1806756;1807550;1808872;1809232;1809308;1809388;1810980;1812360;1812624;1813600;1814610;1814612;1815472;1815956;1816454;1819388;1819570;1820210;1821854;1821934;1822708;1826244;1826954;1830984;1832514;1835694;1838524;1838812;1842646;1845574;1846510;2029322;2029324;2029326;2029328;2029330;2029332;2029334;2029336;2029338;2029340;2029342;2029344;2029346;2029348;2029350;2029352;2029354;2029356;2029358;2029360;2029362;2029364;2029366;2029368;2029370;2029372;2029374;2029376;2029378;2029380;2029382;2029384;2029386;2029388;2029390;2029392;2029394;2029396;2029398;2029400;2029402;2029404;2029406;2029408;2029410;2029412;2029414;2029416;2029418;2029420;2029422;2029424;2029426;2029428;2029430;2029432;2029434;2029436;2029438;2029440;2029442;2029444;2029446;2029448;2029450;2029452;2029454;2029456;2029458;2029460;2029462;2029464;2029466;2029468;2029470;2029472;2029474;2029476;2029478;2029480;2029482;2029484;2029486;2029488;2029490;2029492;2029494;2029496;2029498;2029500;2029502;2029504;2029506;2029508;2029510;2029512;2029514;2029516;2029518;2029520;2029522;2029524;2029526;2029528;2029530;2029532;2029534;2029536;2029538;2029540;2029542;2029544;2029546;2029548;2029550;2029552;2029554;2029556;2029558;2029560;2029562;2029564;2029566;2029568;2029570;2029572;2029574;2029576;2029578;2029580;2029582;2029584;2029586;2029588;2029590;2029592;2029594;2029596;2029598;2029600;2029602;2029604;2029606;2029608;2029610;2029612;2029614;2029616;2029618;2029620;2029622;2029624;2029626;2029628;2029630;2029632;2029634;2101380;2101382;2101384;2101386;2101388;2101390;2101392;2101394;2101396;2101398;2101400;2101402;2101404;2101406;2101408;2101410;2101412;2101414;2101416;2101418;2101420;2101422;2123168;2131720;2132263;2134799;2141405;2150544;2162863;2190917;5017114;5022357;5096793;5112994 D21S1451;D21S1680;D21S1910;D21S1960;ECD00036;ECD00100;ECD00328;ECD00839;ECD00899;ECD00948;ECD01591;ECD01662;ECD01697;ECD01730;ECD02340;ECD02592;ECD04336;ECD04747;ECD05419;ECD05606;ECD05644;ECD05686;ECD06488;ECD07187;ECD07322;ECD07823;ECD08335;ECD08336;ECD08772;ECD09018;ECD09269;ECD10761;ECD10852;ECD11179;ECD12013;ECD12053;ECD12442;ECD14234;ECD14592;ECD16628;ECD17396;ECD19004;ECD20436;ECD20585;ECD22530;ECD24005;ECD24476;G48507;GDB:335409;MARC_11511-11512:1001088403:1;REN85665;REN85666;REN85667;REN85668;REN85669;REN85670;REN85671;REN85672;REN85673;REN85674;REN85675;REN85676;REN85677;REN85678;REN85679;REN85680;REN85681;REN85682;REN85683;REN85684;REN85685;REN85686;REN85687;REN85688;REN85689;REN85690;REN85691;REN85692;REN85693;REN85694;REN85695;REN85696;REN85697;REN85698;REN85699;REN85700;REN85701;REN85702;REN85703;REN85704;REN85705;REN85706;REN85707;REN85708;REN85709;REN85710;REN85711;REN85712;REN85713;REN85714;REN85715;REN85716;REN85717;REN85718;REN85719;REN85720;REN85721;REN85722;REN85723;REN85724;REN85725;REN85726;REN85727;REN85728;REN85729;REN85730;REN85731;REN85732;REN85733;REN85734;REN85735;REN85736;REN85737;REN85738;REN85739;REN85740;REN85741;REN85742;REN85743;REN85744;REN85745;REN85746;REN85747;REN85748;REN85749;REN85750;REN85751;REN85752;REN85753;REN85754;REN85755;REN85756;REN85757;REN85758;REN85759;REN85760;REN85761;REN85762;REN85763;REN85764;REN85765;REN85766;REN85767;REN85768;REN85769;REN85770;REN85771;REN85772;REN85773;REN85774;REN85775;REN85776;REN85777;REN85778;REN85779;REN85780;REN85781;REN85782;REN85783;REN85784;REN85785;REN85786;REN85787;REN85788;REN85789;REN85790;REN85791;REN85792;REN85793;REN85794;REN85795;REN85796;REN85797;REN85798;REN85799;REN85800;REN85801;REN85802;REN85803;REN85804;REN85805;REN85806;REN85807;REN85808;REN85809;REN85810;REN85811;REN85812;REN85813;REN85814;REN85815;REN85816;REN85817;REN85818;REN85819;REN85820;REN85821;REN85822;REN85823;SHGC-170111;SHGC-36101;SHGC-51896;SHGC-52062;SHGC-64033;SHGC-87574;SHGC-87576;SHGC-87592;SHGC-87593;STS-H66858;STS-W78112;stSG607252;stSG607253;stSG607254;stSG607255;stSG607256;stSG607257;stSG607258;stSG607260;stSG607261;stSG607262;stSG607265;stSG607266;stSG607267;stSG607269;stSG607270;stSG607271;stSG607273;stSG607274;stSG607276;stSG607279;stSG607280;stSG607281 BASS1;C21orf50;DBP-5;FLJ21099;FLJ33914;KIAA1019;NREBP;SON3 Bax antagonist selected in Saccharomyces 1;NRE-binding protein;OTTHUMP00000068515;OTTHUMP00000068516;OTTHUMP00000068517;OTTHUMP00000197908;OTTHUMP00000198934;negative regulatory element-binding protein;protein DBP-5;protein SON APPROVED protein-coding ENSG00000159140 11183 01678 182465 REVIEWED 732975 SORBS2 sorbin and SH3 domain containing 2 Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 4 4 q35.1 186743592 187114516 - 186506598 186877870 - 6480464 9211900;19240061;18559503;16381901;16344560;16189514;15949647;15784622;15489336;15302935;15146197;15128873;14702039;12510380;12477932;12475393;12421765;12023963;11752456;11481476;11292345;11230166;11076863;10521485;9872452;8889549;8125298;16169070;15778465;20029029;16374509;19631450;20379614;20886612;21602178;22589738;21689717;21900206;22394629;22431180;16125169 8470 B7Z3D7;B7Z997;C9IZ89;C9IZT7;C9J348;C9J372;C9J3W4;C9J4K2;C9J4Z9;C9J620;C9J7Q5;C9J8E3;C9J9D3;C9JBB0;C9JBR8;C9JC90;C9JDX2;C9JEA9;C9JFS9;C9JG84;C9JI79;C9JL62;C9JLD6;C9JM25;C9JN77;C9JWC3;C9JZ60;E9PAS5;H7BXR3;H7BZK1;H7BZX1;H7C1R7 AA114994;AB018320;ABBA01070537;ABBA01070538;ABBA01070539;ABBA01070540;ABBA01070541;ABBA01070542;AC093797;AC096659;AC104805;AC108472;AF049884;AF049885;AF090937;AK056628;AK056758;AK225327;AK225812;AK293400;AK295742;AK296461;AK304653;AK312986;AL134289;AL527982;AMYH01014776;AMYH01014777;AU142147;AV658263;BC011883;BC035329;BC069025;BC122526;CB988614;CH471056;CN340607;DA105517;DA119376;DA139168;DA398113;DA836871;DC421607;NG_029709;NM_001145670;NM_001145671;NM_001145672;NM_001145673;NM_001145674;NM_001145675;NM_001270771;NM_003603;NM_021069 AAC05508;AAC05509;AAF24049;AAH11883;ACE87043;ACE87726;BAA34497;BAG35823;BAG51769;BAG51806;BAH11501;BAH12173;BAH12362;BAH14233;CAL37436;CAL37496;CAL37534;CAL37644;CAL37671;CAL37728;CAL37733;CAL37767;CAL37811;CAL37863;CAL37890;CAL37892;CAL37912;CAL37932;CAL37934;CAL38005;CAL38050;CAL38068;CAL38099;CAL38145;CAL38245;CAL38378;CAL38512;CAL38526;CAL38569;CAL38582;CAL38709;EAX04630;EAX04631;EAX04632;EAX04633;EAX04634;EAX04635;EAX04636;EAX04637;NP_001139142;NP_001139143;NP_001139144;NP_001139145;NP_001139146;NP_001139147;NP_001257700;NP_003594;NP_066547;O94875 Hs.619806;Hs.655143 1649409;1649494;1649904;1659825;1670443;1689416;1693666;1706048;1710242;1747877;1749853;1766525;1769474;1772008;1774391;1776036;1777804;1785148;1785156;1787526;1851594;1852476;1853220;1857014;2134795;2143584;2149453;2160793;2173887;2174398;2179498;2181805;2183919;2186128;5022200;5022450;5022578;5037552;5126723 D10S275;D1S1423;D4S1164;D4S2454;D4S2537E;D4S2823;D4S3262;D4S3275;D4S546;D4S910;D8S2279;G41986;G41989;G66867;L18426;RH70382;RH91813;SHGC-111587;SHGC-149842;SHGC-155588;SHGC-155765;SHGC-156018;SHGC-31331;SHGC-33691;SHGC-51428;SHGC-58594;SHGC-59366;SHGC-67241;SHGC-67644;SHGC-67656;SHGC-67667;SHGC-67703;SHGC-67724;SHGC-67725;SHGC-67746;SHGC-67978;SHGC-80058;SHGC-85211;WI-20258 ARGBP2;FLJ93447;KIAA0777;PRO0618 Arg binding protein 2;Arg/Abl interacting protein;Arg/Abl-interacting protein 2;OTTHUMP00000211722;OTTHUMP00000211723;OTTHUMP00000211724;OTTHUMP00000211725;OTTHUMP00000211726;OTTHUMP00000211727;OTTHUMP00000211728;arg/abl-interacting protein argbp2;sorbin and SH3 domain-containing protein 2 APPROVED protein-coding ENSG00000154556 24098 12473 REVIEWED 1314224 SORCS1 sortilin-related VPS10 domain containing receptor 1 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 10 q23-q25 102072553 102663374 - 108323411 108914282 - 108333421 108924466 - 1580863;6480464 11499680;12482870;19241460;18830724;18519826;18315530;15164054;14702039;19913121;20534741;20574532;20628086;20677014;12477932;16385451;19875614;19948975;20379614;20413850;20881129;21294870;23055476;22046233;22353753;23279143;23472165 114815 A8K182;B3KVZ0;B3KWN9;E6Y3G0;H7C2U3;Q9H1Y1 AB209142;ABBA01063060;ABBA01063061;ABBA01063062;AF284756;AK074581;AK123752;AK125464;AK126905;AK289797;AL133395;AL160010;AL356255;AL356308;AL357333;AMYH01003042;AMYH01003043;AMYH01003044;AMYH01003045;AW137766;AY099452;AY099453;BC131597;BE019093;CH471066;EU281343;EU281344;NG_029120;NM_001013031;NM_001206569;NM_001206570;NM_001206571;NM_001206572;NM_052918 AAI31598;AAL56667;AAM43811;AAM43812;ABZ89711;ABZ89712;BAD92379;BAF82486;BAG53952;BAG54201;BAG54391;EAW49583;EAW49584;EAW49585;EAW49586;EAW49587;NP_001013049;NP_001193498;NP_001193499;NP_001193500;NP_001193501;NP_443150;Q8WY21 Hs.591915 1335247;1336056;1338793;1713873;1719713;1722881;1729676;1736134;1753021;1755231;1756685;1778887;2106629;2136100;2141095;2154905;2171400 A008R15;D10S108;D10S1123;D10S1331E;D10S1395E;D10S1410;D10S1636;D10S1663;D10S175;G60535;RH119367;RH123545;SHGC-142130;SHGC-143767;SHGC-31312;SHGC-77869;SORCS1__5283 FLJ41758;FLJ43475;FLJ44957;hSorCS OTTHUMP00000020446;OTTHUMP00000020447;SORCS receptor 1;VPS10 domain receptor SorCS;VPS10 domain receptor protein SORCS 1;VPS10 domain-containing receptor SorCS1;hSorCS APPROVED protein-coding ENSG00000108018 16697 12098 606283 REVIEWED 1322178 SORCS3 sortilin-related VPS10 domain containing receptor 3 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. [provided by RefSeq, Jul 2008] 10 10 10 q23-q25 100141671 100765737 + 106390849 107014983 + 106400859 107024993 + 1580863;6480464 11499680;15710408;15164054;12477932;10470851;16385451;20379614;22939629 22986 B7Z891;Q5CAJ2;Q9UPU3 AB028982;ABBA01063082;ABBA01063083;ABBA01063084;ABBA01063085;ABBA01063086;ABBA01063087;AK303009;AL161646;AL353900;AL355350;AL358949;AL365449;AL445492;AL589942;AL596118;AMYH01003035;AMYH01003036;AMYH01003037;AMYH01003038;BC045754;BC117417;CH471066;HC007286;NM_014978 AAH45754;AAI17418;BAA83011;BAH13877;CBH19448;EAW49589;EAW49590;NP_055793;Q9UPU3 Hs.671950 1336930;1337532;1339974;1664210;1690604;1721005;1724461;1731036;1731054;1758063;1761833;1761937;1781902;1782170;2125138;2149400 D10S1264;D10S1671;D10S20;D10S2212;D10S2469;D10S266;D10S467;G59484;RH122394;RH93114;SHGC-106916;SHGC-145786;SHGC-145871;SHGC-147240;SHGC-155953;WI-11152 RP11-107L7.1;SORCS 6330404A12Rik;OTTHUMP00000020444;VPS10 domain receptor protein SORCS 3 (SORCS3);VPS10 domain-containing receptor SorCS3 APPROVED protein-coding ENSG00000156395 16699 12100 606285 REVIEWED 1320080 SORBS1 sorbin and SH3 domain containing 1 10 10 q23.33 97061520 97311161 - 97071530 97321171 - 1580863;1642731;1642744;6480464;6484113;6907045 17351624;11532984 15716063;15489336;15489334;14702039;9447983;10085297;11374898;11001060;11371513;19165527;18660489;18394047;17462669;16381901;15777793;12849814;12690089;12510380;12504111;12477932;12421765;12395215;12079283;11997497;11557983;11481476;11230166;11076863;10718198;10583506;9461600;15128873;17353931;15031295;12650714;14627618;16374509;16385451;17082770;19282865;19891780;20129698;20201926;20379614;18029348;20936779;12765336;15939299;17548467;22235335;22745667;21988832;22094256;23251661;23382691 10580 Q9UFT2 AB037717;ABBA01021836;ABBA01021837;ABBA01021838;AF136380;AF136381;AF330623;AF330624;AF356525;AF356526;AF356527;AJ489942;AK022468;AK294924;AK300407;AK304130;AK304753;AL117472;AL122082;AL157890;AL158165;AL707894;AL832353;AM260536;AMYH01002968;BC042612;BC152463;BX640814;CH471066;NM_001034954;NM_001034955;NM_001034956;NM_001034957;NM_006434;NM_015385;NM_024991;U70668 AAB93496;AAD27647;AAF22175;AAH42612;AAI52464;AAI60134;AAK37563;AAK37564;AAK37565;AAK57479;AAK57480;BAA92534;BAG58006;BAG62137;BAG65026;BAH14253;CAB55947;CAD34588;CAE45892;CAI14385;CAJ97431;CAL37960;EAW49998;EAW49999;EAW50000;EAW50001;EAW50002;EAW50003;EAW50004;EAW50005;EAW50006;EAW50007;EAW50008;NP_001030126;NP_001030127;NP_001030128;NP_001030129;NP_006425;NP_056200;NP_079267;Q9BX66 Hs.38621 1340464;1679838;1683503;1709464;1713587;1736152;1762681;1767571;1767829;1780248;1782152;1782198;1789106;1857849;2118729;2139665;2145084;2183109;5015169;5015810;5094834;5122183;7185687 D10S1403E;D10S571;G65687;GDB:182516;RH120290;RH66455;RH68872;RH70787;RH80133;RH92581;SHGC-146474;SHGC-154707;SHGC-155500;SHGC-155501;SHGC-156237;SHGC-31032;SHGC-56758;SHGC-81783;SORBS1;STS-W86789;WI-18250;WI-22239 CAP;DKFZp451C066;DKFZp586P1422;FLAF2;FLJ12406;KIAA1296;R85FL;SH3D5;SH3P12;SORB1 Fas-ligand associated factor 2;OTTHUMP00000020139;OTTHUMP00000020140;OTTHUMP00000020142;OTTHUMP00000020143;OTTHUMP00000020144;OTTHUMP00000020145;OTTHUMP00000020146;OTTHUMP00000020147;SH3 domain protein 5;SH3-domain protein 5 (ponsin);c-Cbl associated protein;c-Cbl-associated protein;ponsin;sorbin and SH3 domain-containing protein 1 protein-coding ENSG00000095637 14565 05587 605264 VALIDATED 1604395 SORBS3 sorbin and SH3 domain containing 3 This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 8 8 p21.3 22465196 22488953 + 22409251 22433008 + 6480464 9885244;19294487;17486060;17081983;16964243;16923119;16189514;15734736;15489334;15302935;15242778;15184391;12660241;12657639;12510380;12477932;10585480;11481476;18662323;14627618;16302969;16374509;16831423;19807924;20361963;20205591;22939629 10174 E5RH58;E5RHI2;E5RHS8;E5RIA0;E5RJP2;E7EQH0;H0YAT3;H0YAU6;H0YAZ3;H0YB51;H0YB85;H0YBA2;H0YBL2;O60504 ABBA01005521;AC037459;AF037261;AF064807;AK301196;AK303950;AMYH01018566;BC004314;BC010146;BC067260;BC091514;BM999851;CF456833;CH471080;CX783871;NG_030586;NM_001018003;NM_005775 AAC09244;AAD32304;AAH04314;AAH10146;AAH67260;AAH91514;BAG62776;BAG64877;EAW63673;EAW63674;EAW63675;EAW63676;NP_001018003;NP_005766;O60504 Hs.528572 1338138;1671601;1687788;2166813 D8S136;RH41845;RH78782;SHGC-30970 SCAM-1;SCAM1;SH3D4;VINEXIN OTTHUMP00000162521;OTTHUMP00000225098;OTTHUMP00000225099;SH3-containing adapter molecule 1;sorbin and SH3 domain-containing protein 3;vinexin;vinexin beta (SH3-containing adaptor molecule-1) APPROVED protein-coding ENSG00000120896 30907 11535 610795 REVIEWED 5132539 SOS1-IT1 SOS1 intronic transcript 1 (non-protein coding) 2 2 p21 39060148 39061160 - 39219420 39220432 - 100505911 AA284396;BI861294;XR_109972;XR_112310 Hs.712612 1691282 RH98865 miscrna 41385 1321631 SORCS2 sortilin-related VPS10 domain containing receptor 2 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] 4 4 4 p16.1 7098892 7646499 + 7245373 7795464 + 7194374 7744564 + 1580863;6480464 11499680;19328558;19308021;16344560;12477932;10718198;19851296;20080650;20198315;20379614;21216879;23251661 57537 B5MED8;H0Y9I2;Q96PQ0 AB037750;ABBA01012743;ABBA01012744;ABBA01012745;ABBA01012746;ABBA01012747;ABBA01012748;ABBA01012749;ABBA01012750;ABBA01012751;ABBA01012752;ABBA01012753;ABBA01012754;ABBA01012755;AC004169;AC080003;AC097382;AC112710;AC116316;AF286190;AI206155;AK295629;AMYH01013923;AMYH01013924;AMYH01013925;AMYH01013926;BC035257;CH471131;DA215907;FJ695208;NM_020777;R37251 AAI56054;AAI56940;AAL04014;BAA92567;BAG58506;EAW82363;EAW82364;NP_065828;Q96PQ0 Hs.479099 1644388;1646242;1650385;1652769;1656505;1661954;1672347;1694842;1696402;1712867;1760861;1762753;1787668;1851001;1851911;2110171;2114963;2116227;2124937;2132243;2137511;2141853;2143958;2155302;2162885;2164142;2164348;2166269;2178234;2179296;2189083;2189093;2189113;2189125;2189257;2189259 AL008659;D4S1115;D4S1128;D4S1269;D4S495;D4S538;D4S545;D4S547;D4S611;D4S849;D4S853;G01810;G16730;G16741;G33989;G43673;G65089;G65090;G65143;G65163;G65189;G65191;RH120150;SHGC-144535;SHGC-146538;SHGC-156150;SHGC-24198;SHGC-25091;SHGC-25103;SHGC-50797;SHGC-50999;SHGC-59761;SHGC-59838;SHGC-83322;WI-9347;st526h22-8e5 OTTHUMP00000217248;VPS10 domain receptor protein;VPS10 domain-containing receptor SorCS2 APPROVED protein-coding ENSG00000184985 16698 12099 606284 REVIEWED 7241956 SORCS3-AS1 SORCS3 antisense RNA 1 10 106424366 106425973 - 12477932;14702039 100505890 ABBA01063087;AK097854;AL355350;AMYH01003036;BC042079;BU852305;NR_104028;XR_110455;XR_111117;XR_171869 Hs.348526 1690604 RH93114 uncharacterized protein LOC100505890 miscrna ENSG00000226387 45244 VALIDATED 1322140 SOS1 son of sevenless homolog 1 (Drosophila) This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008] 2 2 p21 39066469 39201067 - 39208690 39347604 - 1580011;1580863;1581104;1581110;1299201;2317988;5686834;6480464;6484113;6907045;7240710 11868160;15728722;8577724;12891559;16829981;22029668 21851854;22360309;9790532;9690470;10206341;12029088;14679214;17474147;11520933;8493579;7739560;8479541;8810325;19289468;19206169;19133693;19077116;19020799;18972187;18778683;18660489;18651097;18454158;18064648;17586837;17510059;17486115;17437339;17315019;17283063;17143285;17143282;17075039;17062749;16906159;16760435;15302935;15173068;15010862;14656442;14565974;14551916;12486104;12223473;12147692;12099688;11956071;11707404;11560935;11560919;11352907;11278868;11173924;11071869;10995566;10943841;10913276;10716926;10706702;10507724;10499589;10026169;9856337;9651378;9544989;9529355;9480847;9447973;9374522;9182757;9182529;9162067;8816480;8647802;8631299;8276400;7862111;7664271;7629168;7520523;8112292;7529874;7544443;11997436;10783152;10675333;10570290;9632781;10940929;9660480;12577067;11964172;11960376;10477741;10319320;10207103;9872323;9009162;8695800;8188688;7514169;9344843;7510700;8632004;12628188;9374537;22344067;19913121;20543023;20628086;20950586;20389169;20724475;16159877;20030748;20305546;20936779;11756498;12376548;12787561;15824104;17389601;19352411;19438935;19464300;19724911;19911011;19953625;20005866;20133692;20133694;20186801;20302979;20379614;20607846;21048031;20683980;20673819;21387466;21666788;15507210;21746917;22042618;17043677;19531499;21674833;16893902;20467438;21706016;21988832;22217993;22396725;22558309;20301303;10025673;16274251;17548467;18539136;8943292;9716598;18271526;19380743;20697350;8950973;23132018;23589333 6654 B4DXG2;C9K0N6;G5E9C8;Q07889 AB209140;ABBA01075022;ABBA01075023;ABBA01075024;ABBA01075025;AC019171;AC092672;AF106953;AF441482;AK290228;AK301960;AL833457;AMYH01010269;AV702692;CH471053;HI376402;L13857;NG_007530;NM_005633 AAA35913;AAF04460;AAI40216;AAM22406;AAX93186;AAY24202;BAD92377;BAF82917;BAG63374;CBX55730;EAX00350;EAX00351;EAX00352;EAX00353;NP_005624;Q07889 Hs.709893;Hs.732497 1298195;1338062;1338122;1338864;1341743;1357238;1644526;1645756;1656949;1685373;1691282;1745957;1792624;1852037;2111017;2128673;2139992;2140570;2147145;2150415;2152530;2162194;2169674;2174237;2176099;5093904;5094012;5109601;7183811 A009Y37;A010A36;AI449023;D2S119;D2S1346;D2S1348;D2S1356;D2S1690E;D2S1788;D2S2186;D2S2328;D2S235E;D2S441;G32992;G33055;PMC155645P1;RH36309;RH48741;RH68727;RH69415;RH69513;RH98720;RH98865;SGC31905;SGC34493;SHGC-31981;SHGC-37149;WI-13618;WI-21651 GF1;GGF1;GINGF;HGF;NS4 OTTHUMP00000128306;OTTHUMP00000204121;SOS-1;gingival fibromatosis, hereditary, 1;guanine nucleotide exchange factor;son of sevenless homolog 1 APPROVED protein-coding ENSG00000115904 11187 01681 135300;182530;610733 REVIEWED 1346295 SOS2 son of sevenless homolog 2 (Drosophila) 14 14 q21 49653596 49767849 - 50583846 50698099 - 1580863;1299201;2317988;5686834;6480464;6907045 12891559;16829981;22029668 14679214;17474147;19289468;17440948;17143285;14551139;12628188;12477932;12097864;11003655;10940929;10938118;10820259;10675333;9372945;9067577;8943292;8493579;8276400;7629138;22558309;11756498;12376548;12787561;19911011;20936779;20618341;9182529;15173068;19531499;18271526;19380743;20697350 6655 B7ZKT6;G3V5W3;Q07890 AB209277;ABBA01018131;AI419975;AK295868;AK302825;AK308978;AK309123;AL109758;AMYH01005719;AMYH01005720;AMYH01005721;BC117261;BC143366;BC143367;CH471078;L13858;L20686;NM_006939 AAA35914;AAA91852;AAI17262;AAI43367;AAI43368;ADR83296;BAD92514;BAG58667;BAG64022;EAW65727;EAW65728;NP_008870;Q07890 Hs.291533 1670986;1731609;1777325;1847633;1852325;2121088;2166455 D13S1686;D14S166;D14S945;G35441;G35626;G35790;WI-16425 FLJ25596 OTTHUMP00000178975;OTTHUMP00000244573;SOS-2;guanine nucleotide exchange factor;guanine nucleotide releasing factor;son of sevenless homolog 2 protein-coding ENSG00000100485 11188 03149 601247 VALIDATED 1322123 SORL1 sortilin-related receptor, L(DLR class) A repeats containing This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded protein is translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association between expression of this locus and Alzheimer's Disease.[provided by RefSeq, Sep 2010] 11 11 q23.2-q24.2 120828130 121005621 + 121322912 121504471 + 1581303;1580863;6480464;7240710 15313836 18407551;16489755;17326667;9157966;19368828;19364927;19077115;19064752;18938222;18830724;18713574;18685254;18603531;18562096;18541377;18093545;18090307;18063222;17978276;17975299;17949987;17826910;17721864;17589324;17420311;17220890;16565469;16531402;16407538;16344560;16174740;14764453;14702039;12970790;12530537;12477932;11821067;11557679;11294867;10375696;8940146;8619474;19913121;20534741;20574532;20625269;20628086;20634593;20667857;21385844;20015111;21145461;19539718;19584446;19653016;19822782;19889229;19889475;20379614;20413850;20838585;20047743;20880607;20946940;20689279;21220680;21147781;21206043;20970138;22127416;22621900;22286501;22472873;23486467;22927900;21730226;21994944;21989385;22279231;21997402;22321011;20301340;22044026;22836009;17110338;21185108;23127357;22268729;22297619;22750733;23565137 6653 E9PKB0;E9PP43;E9PPB3;E9PS32;Q92673 ABBA01031302;ABBA01031303;ABBA01031304;AI358248;AK025583;AK096577;AK294404;AK295090;AK295878;AK302589;AK309523;AK316340;AMYH01004092;AP000664;AP000977;BC032903;BC040643;BC137171;BQ888333;BX365721;CH471065;DA386525;DB499706;DN831521;NG_023313;NM_003105;U90916;Y08110 AAI37172;BAG57656;BAG58131;BAG58675;BAG63842;BAH14711;CAA69325;EAW67524;EAW67525;EAW67526;EAW67527;NP_003096;Q92673 Hs.368592 1645338;1647610;1647612;1705366;1715235;1724405;1751635;1756129;1769133;1856938;2118332;2135685;2156413;2166632;5491465 A001V33;D11S2303E;G19692;MARC_13961-13962:1007650350:1;RH11765;RH119868;RH122364;RH12302;RH12473;RH45842;SHGC-105603;SHGC-142924;SHGC-53425;SHGC-83535;T15980 C11orf32;FLJ21930;FLJ39258;LR11;LRP9;SORLA;SorLA-1;gp250 LDLR relative with 11 ligand-binding repeats;OTTHUMP00000231797;low-density lipoprotein receptor relative with 11 ligand-binding repeats;mosaic protein LR11;sortilin-related receptor;sortilin-related receptor containing LDLR class A repeats;sortilin-related receptor, L(DLR class) A repeats-containing;sorting protein-related receptor containing LDLR class A repeats APPROVED protein-coding ENSG00000137642 11185 03595 104300;602005 REVIEWED 737334 SOST sclerostin Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008] 17 17 q11.2 39186625 39191682 - 41831099 41836156 - 68858;1580863;6480464;7240710 11179006 21164019;14633986;22162201;11181578;19371798;19079262;19075223;19072561;18931653;18292354;17185822;17052975;17002572;16189254;16123173;15545262;15514891;15489334;15454089;15340161;15199066;15024046;14739291;12975309;12477932;12398949;12116252;11836356;22399511;20817762;19208630;19453261;19857121;19877044;19898734;19936252;20043874;20156921;20305005;20359476;19778325;20336693;20583295;20951118;20200987;15908424;20534768;20554715;21471202;20952383;21153337;20721932;20499362;21312267;22836717;21221996;22728230;22844062;22855334;22865898;22575440;17696759;21351148;21441835;21667439;21566129;21723865;22082361;22006831;21786318;21812027;21890009;21994959;22031520;22032557;22206666;21937621;21944579;21991382;21613383;21347301;22075208;22151063;22466341;22364398;20301406;22475109;22353552;22579776;23389587;22527202;23079137;22581647;23233270;23362266;22504420;23221033;23041840;22032690;22767636;22076526;22508529;22696217;22723594 50964 Q7Z4G0;Q9BQB4 ABBA01028400;AC055813;AF170491;AF184211;AF326736;AF326739;AF331844;AMYH01008409;AY358203;AY358627;BC101086;BC101087;BC101088;BC101089;CH471178;CQ986736;NG_008078;NM_025237 AAI01087;AAI01088;AAI01089;AAI01090;AAK13451;AAK13454;AAK16158;AAQ13601;AAQ13694;AAQ88570;AAQ88990;CAI46877;EAW51669;NP_079513;Q9BQB4 Hs.349204 2109877 SOST_9655 CDD;VBCH sclerostin APPROVED protein-coding ENSG00000167941 13771 05762 122860;239100;269500;605740 REVIEWED 1606099 SOWAHD sosondowah ankyrin repeat domain family member D X X X q24 119347218 119348807 + 118776604 118778155 + 118892576 118894165 + 15772651;22234889 347454 A6NJG2 ABBA01036634;AC005052;AMYH01022886;CD368490;NM_001105576 A6NJG2;NP_001099046 Hs.355223 ANKRD58 OTTHUMP00000215979;ankyrin repeat domain 58;ankyrin repeat domain-containing protein 58;ankyrin repeat domain-containing protein SOWAHD;protein sosondowah homolog D APPROVED protein-coding ENSG00000187808 32960 VALIDATED 735508 SORD sorbitol dehydrogenase Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010] 15 15 q15.3 43102633 43154331 + 45315302 45367287 + 1601362;1601364;1601360;1300048;1580863;6480464;6907045 15755558;14525943;15064821 16344560;3365415;6870831;8487505;12962626;14965227;16278369;6177277;17343568;16189514;15862967;15489334;14702039;12665801;12595725;12477932;9880675;9183016;8088829;7782086;7601136;6439573;2936393;2691249;20372835;8535074;20628624;19423711;22863883;22939629;18781797;21139048;21906983;21963094;21988832;22505724 6652 B7Z3A6;H0YKB3;H0YLA4;Q00796 ABBA01039190;AC090888;AC091117;AK090738;AK296574;AK309672;AK312444;AMYH01006615;BC021085;BC025295;BI258813;CH471082;DA530494;DB031906;L29008;L29254;NM_003104;NR_034039;U07361;U67243 AAA66064;AAA80565;AAA80566;AAB61898;AAH21085;AAH25295;ABM83695;ABM87015;BAG35352;BAG59194;EAW77284;EAW77285;NP_003095;Q00796 Hs.878 1653116;1653152;1670179;1675455;1736812;2108513;2118789;2174369 D15S1336;D15S800;G15968;RH68832;RH79584;SHGC-17227;SORD_8637;STS-N22765 SORD1 L-iditol 2-dehydrogenase;OTTHUMP00000161939;sorbitol dehydrogenase APPROVED protein-coding 11184 01679 182500 VALIDATED 1348976 SOX1 SRY (sex determining region Y)-box 1 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008] 13 13 q34 111769914 111774021 + 112721913 112726020 + 1580863;6480464 9337405;19061938;18032743;15110721;12194848;12100890;11071752;10729834;9512512;20634891;19667272;20515335;20844123;22767186;23278580 6656 O00570 ABBA01019839;ABBA01019840;AL138691;AMYH01005386;AMYH01005387;CH471085;NM_005986;Y13436 CAA73847;EAX09158;NP_005977;O00570 Hs.202526 1661035;1701580;1773273;1793892;5024901 D13S1177;PMC304098P3;RH104424;Sox1;WI-13756 OTTHUMP00000038925;SRY-related HMG-box gene 1;transcription factor SOX-1 APPROVED protein-coding ENSG00000182968 11189 03687 602148 REVIEWED 1605533 SOWAHB sosondowah ankyrin repeat domain family member B 4 4 4 q21.1 75117434 75120354 - 78035106 78038026 - 77816082 77819002 - 6480464 12477932;22234889 345079 A6NEL2 ABBA01063367;AC104687;AMYH01014316;BC137241;BC137255;NM_001029870 A6NEL2;AAI37242;AAI37256;NP_001025041 Hs.257292 ANKRD56 OTTHUMP00000219201;ankyrin repeat domain 56;ankyrin repeat domain-containing protein 56;ankyrin repeat domain-containing protein SOWAHB;protein sosondowah homolog B APPROVED protein-coding ENSG00000186212 32958 18789 PROVISIONAL 731682 SORT1 sortilin 1 This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. [provided by RefSeq, Jul 2008] 1 1 p13.3 109653715 109742086 - 109852187 109940563 - 1580863;6480464;6907045 10085125;14985763;9756851;11331584;15992544;18258592;19487539;19299407;19198609;19148283;19060910;19060906;18713973;18624930;20339536;20383146;20686565;15930396;15489334;15364913;15313463;14702039;14657016;12598608;12477932;12419319;12360476;12209882;11859376;11499680;11390366;11257441;10390649;9927419;9657377;9305862;9013611;11821067;18603531;18193044;18193043;18191449;18088323;17353931;17220298;16710414;16344560;16263699;15987945;21245145;20570916;20584990;20628624;20679960;16087676;19219422;19837406;19875813;20031591;20036257;20048080;20085800;20159974;20167577;20686566;20613775;20816088;20738937;20971364;21087763;21261755;21378988;21378990;21521695;22884962;23236149;21730062;22256600;21466885;21963094;23102784;23485461;22418572;21139048;22128158;21966426;21909109;19322201;20015111;22361451;22751103;18029348;23118302;23283322;12482870;22297619;22768187;23438231 6272 Q99523 AA782785;ABBA01068377;AI623426;AI695671;AK000757;AK023648;AK129918;AK130545;AK293118;AK301548;AK310147;AL117561;AL390252;AMYH01000930;AU132384;BC023542;BC041982;BC053575;BF591118;BQ001031;BQ774407;BX955818;CB267773;CH471122;DA023768;DB045034;FJ525881;JA738725;NG_028280;NM_001205228;NM_002959 AAH23542;ABM87792;ACN81319;BAF85807;BAG63045;CCF77015;EAW56380;NP_001192157;NP_002950;Q99523 Hs.485195;Hs.703487 1693128;1771281;2108515;2158660;2164449;2182438;5016478 AL034289;GDB:434012;SHGC-75262;SHGC-75268;SHGC-75270;SORT1_8606;WI-14018 Gp95;LDLCQ6;NT3 100 kDa NT receptor;NTR3;OTTHUMP00000013784;glycoprotein 95;neurotensin receptor 3;sortilin APPROVED protein-coding ENSG00000134243 11186 03910 602458;613589 REVIEWED 1602435 SOWAHA sosondowah ankyrin repeat domain family member A 5 5 5 q31.1 128279047 128282503 + 132176932 132180388 + 132149033 132152489 + 6480464 15489334;14702039;12477932;22234889 134548 Q2M3V2 ABBA01068799;AC004775;AK090823;AK092782;AMYH01015616;AW450551;BC104771;BC104775;BF437580;BF967159;BM967275;CH471062;DB481577;DN949321;NM_175873 AAI04772;AAI04776;BAC03975;EAW62313;EAW62314;NP_787069;Q2M3V2 Hs.13308 1780508;1803700;1815946;1822868;1824626;1839578;1852934;2001740;2001742;2001744;2001746;2001748;2001750;2001752;2001754;2001756;2001758;2001760;2001762;2001764;2001766;2001768;2001770;2001772;2001774;2001776;2001778;2001780;2001782;2001784;2001786;2096504;2096506;5493307 ECD02756;ECD09013;ECD12522;ECD13411;ECD20972;REN71782;REN71783;REN71784;REN71785;REN71786;REN71787;REN71788;REN71789;REN71790;REN71791;REN71792;REN71793;REN71794;REN71795;REN71796;REN71797;REN71798;REN71799;REN71800;REN71801;REN71802;REN71803;REN71804;REN71805;STS-N49602;UniSTS:485664;bac5077S;stSG601540;stSG601543 ANKRD43 OTTHUMP00000066214;ankyrin repeat domain 43;ankyrin repeat domain-containing protein 43;ankyrin repeat domain-containing protein SOWAHA;protein sosondowah homolog A APPROVED protein-coding ENSG00000198944 27033 14059 VALIDATED 1343094 SOSTDC1 sclerostin domain containing 1 This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 16480854 16485222 - 16467631 16471999 - 16501106 16505474 - 6480464;6484113 18032587;15951218;15489334;15280373;15020244;14702039;14623234;12853948;12690205;12477932;20339536;19760604;21080955;17207965;21221677;21113658 25928 A4D125;A8MUA6;Q6X4U4 AACC02000008;AB059270;ABBA01056629;AC079155;AF361494;AI540640;AI927000;AK093408;AK315682;AL050024;AMYH01017092;AY255634;BC008484;CH236948;CH471073;NM_015464 AAH08484;AAL57219;AAQ83296;AAQ96855;ADQ32508;BAC20331;BAG38047;BAG52710;CAB43243;EAL24287;EAW93669;NP_056279;Q6X4U4 Hs.648106 2110843;2133902;5094875 A008L20;SOSTDC1;UniSTS:471847 CDA019;DKFZp564D206;ECTODIN;USAG1 OTTHUMP00000116021;cystine-knot containing secreted protein;ectodermal BMP inhibitor;sclerostin domain-containing protein 1;uterine sensitization-associated protein-1 APPROVED protein-coding ENSG00000171243 21748 15417 609675 REVIEWED 1349983 SOWAHC sosondowah ankyrin repeat domain family member C 2 2 2 q13 104540692 104545345 + 109729200 109733853 + 110371911 110376564 + 6480464 14702039;12477932;20211142;15489334;15815621;16964243;22990118;18781797;22234889;21906983 65124 Q53LP3 ABBA01008998;AC011753;AC140485;AK023346;AK025523;AMYH01010858;BC036652;BC066772;CH471182;NM_023016 AAH36652;AAY24143;AAY24292;BAB15161;EAW53857;NP_075392;Q53LP3 Hs.355455 1648570;1671814;1856775;2184920;5018953;5022200;5093338;5093534 A009L36;A009Q19;G32660;G32775;G42236;L18426;RH17449;SHGC-34236 ANKRD57;C2orf26 OTTHUMP00000203405;ankyrin repeat domain 57;ankyrin repeat domain-containing protein 57;ankyrin repeat domain-containing protein SOWAHC;chromosome 2 open reading frame 26;protein sosondowah homolog C APPROVED protein-coding ENSG00000198142 26149 08643 VALIDATED 735734 SOX11 SRY (sex determining region Y)-box 11 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008] 2 2 p25 5750250 5758968 + 5832799 5841517 + 1580863;6480464 8666406;16018252;18029348;17934069;17762975;16276109;16166090;21479697;15944188;15345747;12637543;12477932;12194848;12125983;12100890;10574465;9632656;8332506;21880559;20383146;10606637;19801969;19808959;19880778;19880779;20124476;20624318;20626275;21124928;20919851;22752091;22827557;21738649;22915760;21943380;23619925;22738398;23251661;23266558;23321250 6664 P35716;Q05CH0 AB028641;ABBA01023886;AC108025;AMYH01010084;BC025789;CH471053;NM_003108;U23752;X73038 AAB08518;AAH25789;AAI60119;AAX88930;BAA88122;CAA51519;EAX01047;NP_003099;P35716 Hs.432638 1643662;1676694;1682339;2110755;2170967;5491910 A007J15;RH15937;RH76305;RH91652;SOX11_863.2;Sox11 OTTHUMP00000115385;SRY (sex-determining region Y)-box 11;SRY-related HMG-box gene 11;sry-box containing gene 11;transcription factor SOX-11 APPROVED protein-coding ENSG00000176887 11191 02940 600898 REVIEWED 1320144 SOX13 SRY (sex determining region Y)-box 13 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008] 1 1 q32 202308869 202363494 + 204042246 204096871 + 1580863;6480464 10198172;19536175;14679071;12477932;12473246;12194848;12100890;12021135;12021128;12021109;11323090;11286511;11270687;11264788;11126406;10871192;10854791;9421502;15231748;20028982 9580 E9PKD6;E9PPW0;H0YDQ5;Q9UN79 ABBA01027452;ABBA01027453;ABBA01027454;ABBA01027455;ABBA01027456;AF083105;AF098915;AF116571;AF149301;AK301782;AK304192;AK304801;AK314197;AL592146;AMYH01001661;BC040649;BC106038;BM450236;BQ216323;BQ935858;CH471067;NM_005686 AAC83687;AAD16237;AAD50120;AAF23875;AAI06039;ABZ92220;BAG63238;BAG65072;BAG65551;EAW91499;EAW91500;NP_005677;Q9UN79 Hs.201671 1335020;1337402;1647541;1721847;1796862;1851113;5015404;5016596;5020414;5037552;5094186 D1S2668;D1S2717;D8S2279;G54597;G59948;GDB:631802;L17688;L17705;SHGC-76123;SOX13_415;WI-10728 ICA12;MGC117216;Sox-13 OTTHUMP00000034307;SRY-box 13;SRY-related HMG-box gene 13;islet cell antibody 12;islet cell antigen 12;transcription factor SOX-13;type 1 diabetes autoantigen ICA12 APPROVED protein-coding ENSG00000143842 11192 604748 REVIEWED 1320109 SOX14 SRY (sex determining region Y)-box 14 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008] 3 3 3 q22-q23 135908242 135909059 + 138966269 138967086 + 137483134 137485176 + 1580863;6480464 9925951;15489334;12477932;12194848;12100890;10830911;10798354;10441749;9827568;20074681;20797317 8403 O95132;O95416 ABBA01059099;AC007159;AF032451;AF032453;AF107043;AF193436;AJ006230;AK314127;AMYH01013531;BC106729;BC106730;CH471052;NM_004189 AAC94971;AAC94973;AAC95380;AAF76294;AAI06730;AAI06731;BAG36817;CAB43111;EAW79097;NP_004180;O95416 Hs.248184 1701582;1729093;5492829 RH104425;Sox14;UniSTS:482914 MGC119898;MGC119899;SOX28 HMG box transcription factor SOX-14;OTTHUMP00000216388;SRY-box 14;transcription factor SOX-14 APPROVED protein-coding 11193 16067 604747 REVIEWED 1323788 SOX15 SRY (sex determining region Y)-box 15 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] 17 17 p12.3 7432222 7434212 - 7491498 7493488 - 1580863;6480464 9540826;8332506;18579725;18182846;15489334;12477932;12194848;12100890;10524236;9880678;9827568;9730625;8978787;10821863;15367664;16759287;17363903;20211142;22197929 6665 B4DWU7;O60248 AB006867;AB025355;ABBA01054873;AC016876;AF032450;AF032452;AJ006222;AMYH01008085;BC000985;BC072003;CH471108;NG_009204;NM_006942;X73039 AAC94970;AAC94972;AAH00985;AAH72003;ABM81662;ABM84834;BAA25663;BAA78784;CAA06920;CAA51520;EAW90156;EAW90157;NP_008873;O60248 Hs.95582 1646584;1665612;1695012;1730111;2218048 D17S812E;G44719;SOX15_2765;STS-N93513;WI-15346 SOX20;SOX26;SOX27 SRY (sex determining region Y)-box 20;protein SOX-15 APPROVED protein-coding ENSG00000129194 11196 03191 601297 REVIEWED 731681 SOX10 SRY (sex determining region Y)-box 10 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008] 22 22 q13.1 36698265 36710485 - 38368319 38380539 - 1580863;6480464;7240710 16205963;12138193;11029584;9722528;19422606;19320733;18923447;18786246;18636017;18627047;18512230;18348274;18348267;17999358;17855658;17855451;17621166;17009072;16896310;16791471;16741945;16582099;16494873;16214168;22772081;15930386;15896776;15843399;15489334;15461802;15004559;14523991;12944398;12720173;12668617;12477932;12189494;11546831;10942418;10762540;10591208;10482261;10441344;9760192;9462749;9425902;1636383;20308050;19764030;19912373;19933217;20478267;20653825;20974870;20067553;21531202;20130826;20890226;21552103;22736149;22514309;21906983;22008330;21898658;21965087;22640896;22804786;22848661;23643381;23260325;21890473;21988832;22094256;23000965;23275444;23413263;22325460;22337526 6663 A6PVD3;H0Y5N4;P56693 ABBA01055496;ABBA01055497;AJ001183;AK300945;AL031587;AMYH01012758;BC002824;BC007595;BC018808;BT020029;CH471095;CR456584;CR536571;NG_007948;NM_006941 AAH02824;AAH07595;AAV38832;ABM84098;ABM87470;BAG62574;CAA04576;CAG30470;CAG38808;CAK54614;CAK54913;EAW60204;EAW60205;NP_008872;P56693 Hs.376984 1338492;1672024;1796858 D22S1156;SOX10_1580;STS-N32174 DOM;MGC15649;PCWH;WS2E;WS4;WS4C OTTHUMP00000195094;OTTHUMP00000195095;OTTHUMP00000195097;SRY-related HMG-box gene 10;dominant megacolon, mouse, human homolog of;sry-box containing gene 10;transcription factor SOX-10 APPROVED protein-coding ENSG00000100146 11190 03752 602229;609136;611584;613266 REVIEWED 1318728 SOX12 SRY (sex determining region Y)-box 12 Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013] 20 20 20 p13 401079 405712 + 254239 258868 + 306239 310868 + 1580863;6480464 9215677;15489334;12477932;11780052;11222737;11071752;8889548;7566098;185058;18505825 6666 O15370 AA322870;ABBA01053746;AL034548;AMYH01011652;AW296348;BC028103;BC067361;BF530163;BM670751;BU078462;CH471133;HY104751;NM_006943;U35612 AAB69627;AAH67361;EAX10683;NP_008874;O15370 Hs.43627;Hs.712815 1676202;1777226;1796860;2168868 RH47996;RH98756;SOX12_1637;STS-T67132 SOX22 OTTHUMP00000029906;SOX-22 protein;SRY (sex determining region Y)-box 22;SRY-related HMG-box gene 22;transcription factor SOX-12 APPROVED protein-coding ENSG00000177732 11198 09056 601947 REVIEWED 5130490 SOX21-AS1 SOX21 antisense RNA 1 (head to head) 13 q32.1 95364970 95368500 + 14702039 100507533 AK055459;AL137061;XR_109146 Hs.556071 1677969;1701584;1706820 RH104426;RH75757;SHGC-80887 FLJ30897 APPROVED miscrna 39807 1313358 SOX17 SRY (sex determining region Y)-box 17 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] 8 8 q11.23 55533048 55536009 + 55370495 55373456 + 1580863;4889598;6480464;6907045;7240710 20816680 11786926;23044318;17875931;19369635;18997786;18940723;18682240;18564921;18523156;18413743;16344560;15163629;14702039;12477932;12194848;12100890;22348788;19301122;19549530;19736317;20364137;20716954;20960469;21305474;22921431;21514720;21362573;21457403;21957254;21760905;23136251;23474492;22161215;22961961;22846201;23169777;23241958 64321 Q2T9L5;Q9H6I2 AB073988;ABBA01041744;AC091076;AK025905;AMYH01018727;BC030209;BC111365;BC111770;CH471068;DA874945;NG_028171;NM_022454 AAH30209;AAI11366;AAI11771;AAI40308;BAB15277;BAB83867;EAW86748;NP_071899;Q9H6I2 Hs.98367 1677881 RH93135 FLJ22252;VUR3 OTTHUMP00000226577;SRY-related HMG-box transcription factor SOX17;transcription factor SOX-17 APPROVED protein-coding ENSG00000164736 18122 18085 610928;613674 REVIEWED 4768296 SOX30P1 SRY (sex determining region Y)-box 30 pseudogene 1 5 5 5 q33.3 153143842 153145509 - 157049818 157051485 - 157116941 157118244 - 442142 ABBA01044264;AC008694;AMYH01015748;NG_028192 SRY (sex determining region Y)-box 30 pseudogene 1 pseudo 35122 INFERRED 1312334 SOX21 SRY (sex determining region Y)-box 21 SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004] 13 13 13 q31-q32 76209825 76212338 - 94159877 94162390 - 95361876 95364389 - 1580863;6480464 10441749;1614875;12477932;12194848;11076863;9827568;8111369;16341674;20824710 11166 O95129;Q9Y651 ABBA01027206;ABBA01027207;AF032449;AF107044;AI418194;AI569726;AI816765;AL137061;AMYH01005301;AMYH01005302;BM783159;CH471085;NM_007084;X65666;X71136 AAC94969;AAC95381;AAI11585;CAA46617;CAA50466;EAX08946;NP_009015;Q9Y651 Hs.187577 1677969;1701584;5492861 RH104426;RH75757;UniSTS:483061 SOX25 OTTHUMP00000018558;SOX-A;SRY-box 21;transcription factor SOX-21 APPROVED protein-coding ENSG00000125285 11197 16083 604974 VALIDATED 1350865 SOX2-OT SOX2 overlapping transcript (non-protein coding) 3 3 3 q26.33 179761749 179892814 + 182900092 182942710 + 181328151 181459009 + 6480464 16344560;14702039;12612584;12477932;19767420 347689 ABBA01058503;ABBA01058504;ABBA01058505;ABBA01058506;AC117415;AC125613;AK022826;AL157425;AMYH01013697;AMYH01013698;BC016393;BC041898;DA250340;DA281835;DA310380;DA366949;JN711430;JN882275;JQ408703;JX504683;NR_004053;NR_075089;NR_075090;NR_075091;NR_075092;NR_075093 Hs.654932 1341438;1681746;1698278;1698820;1710364;1711122;1724289;1769369;1783900;1784726;1784740;1849292;1852271;2113486;2150344;2165185;7186662 D3S1232;D3S4129;G16679;GDB:1318268;GDB:312782;RH102676;RH102974;RH119069;RH66812;SHGC-106348;SHGC-153786;SHGC-154076;SHGC-82444;SHGC-86213;UniSTS:474706;WI-14081 DKFZp761J1324;NCRNA00043;SOX2OT APPROVED miscrna 20209 VALIDATED 1345400 SOX5P SRY (sex determining region Y)-box 5 pseudogene 8 8 8 q21.2 84995094 84996543 - 88869379 88871228 - 88800463 88801912 - 1580863 12194848;9827568;8812465 6661 O95133 ABBA01037378;AC005066;AC032002;AF032454;AMYH01018866;NG_002726 AAC94974 1676095 RH80811 SOX29 pseudo 11202 INFERRED 1323321 SOX18 SRY (sex determining region Y)-box 18 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008] 20 20 q13.33 62149523 62151423 - 62679079 62680979 - 1599075;1580863;6480464;7240710 12740761 10807548;18564921;18564920;18496767;18065521;16882943;16179596;15489334;12477932;12194848;12165811;12100890;11780052;11748221;11554755;11130989;10858556;7665083;1614875;21796627;22292085;22018271;21988832 54345 P35713 AB033888;ABBA01021438;ABBA01021439;AF086136;AF270652;AJ243896;AL355803;AMYH01012096;BC035513;BC038590;BC073971;BC111390;CH471077;NG_008095;NM_018419;X65664 AAG48577;AAH38590;AAH73971;AAI11391;BAA94874;CAA46615;CAB95835;EAW75172;NP_060889;P35713 Hs.8619 1698650 RH102882 HLTS OTTHUMP00000031624;SRY-box 18;transcription factor SOX-18 APPROVED protein-coding ENSG00000203883 11194 07208 601618;607823 REVIEWED 1344695 SOX2 SRY (sex determining region Y)-box 2 This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008] 3 3 q26.3-q27 182912416 182914918 + 181429712 181432224 + 1599088;1580863;6480464;7240710 12612584 19876845;22396547;22482508;20368621;21419292;21518820;22571403;22070920;22311737;22542624;22613719;18385794;18366076;18293417;18285410;18268498;18199879;18187129;18162777;18157115;18039390;18027866;17898260;17587179;17522144;17506876;17464316;17389240;17334350;17291498;17219395;17136346;16932809;16712695;16596179;16552336;16283891;16153702;15920534;15910596;15489334;14719100;14655050;14559893;12923055;12732652;12710953;12637543;12477932;12194848;11358870;10801796;10760287;10729834;10089404;8889548;7590241;7849401;19549847;19520737;19414369;19409607;19061938;18948646;18831064;18710938;18474784;18456656;18393632;18388306;21276239;20667095;21251041;21927024;20299530;20537983;20510497;20371328;20709360;20875870;20631605;20726797;20454695;22941189;20349085;20949537;20161759;20384793;17982423;18000303;18407919;18836133;19254784;19327014;19396148;19427902;19458492;19471311;19483629;19554373;19657699;19661786;19696409;19716157;19723802;19736317;19767420;19787784;19801978;19816951;19921648;20042675;20057906;20114006;20126410;20138825;20185800;20382729;20494911;20211142;20698766;21048121;20425471;20301552;20739473;20850729;22539002;22791809;23086772;15146197;16344560;21304604;21103394;20937145;21211035;21716161;21951286;21166886;22937156;23060440;23135265;23213213;20824710;21305642;21531766;20879854;21280222;21323603;21540835;18757296;21376027;21549328;23424657;22945632;21460799;21433225;21689966;21631526;21947321;21803132;19591226;21415100;21962512;21804543;21852325;21687954;21931300;22069467;22200372;21190055;21940738;22236193;22777760;23462476;21532573;22204637;23349823;23539445;23307254;22899289;22899292;21227461;21822303;22265740;21919124;22014056;22046437;22171155;22184093;20301477;22015605;22469032;22184289;22576801;22576926;22615765;22401770;22814375;22863087;23541921;22912670;23111103;23568430;15143193;23326489;23414798;23667531;22718759;22832207;23159246;22847005;23009336 6657 P48431 ABBA01058503;AC117415;AMYH01013697;AW016610;AW163619;BC013923;BF305585;BM668019;BM722297;CH471052;CN430685;DA388996;L07335;NG_009080;NM_003106;Z31560 AAA35997;AAH13923;ABZ92183;CAA83435;EAW78354;NP_003097;P48431 Hs.518438;Hs.732963 1681746;2113486 RH66812;UniSTS:474706 ANOP3;MCOPS3;MGC2413 OTTHUMP00000212684;SRY-related HMG-box gene 2;transcription factor SOX-2;transcription factor SOX2 APPROVED protein-coding ENSG00000181449 11195 08921 184429;206900 REVIEWED 1347884 SOX3 SRY (sex determining region Y)-box 3 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008] X X q27.1 139412818 139414891 - 139585152 139587225 - 1580863;6480464;7240710 9106538;21636067;8625802;17994562;17910945;17627381;17587179;17127446;17005281;15800844;15788563;15772651;15489334;15342697;15292361;14714741;14585968;12710953;12477932;12428212;12194848;11071752;10729834;8111369;1614875;19799567;19902333;20534763;22293114;21183788;17549794 6658 P41225;Q15505 ABBA01066153;AF264713;AL121875;AMYH01023064;BC093863;BC093865;CH471150;NG_009387;NM_005634;X65665;X71135;X71137 AAF73059;AAH93863;AAH93865;CAA46616;CAA50465;CAA50467;EAW88422;NP_005625;P41225 Hs.157429 1340648;1682347;1683703;1728917;1793628;1798214;5492293;5492607;5493019 DXS1187;DXS737;G42697;PMC24149P3;RH80867;SOX3_2438;Sox3;UniSTS:481771;UniSTS:483758 GHDX;MRGH;PHP;PHPX;SOXB OTTHUMP00000024166;transcription factor SOX-3 APPROVED protein-coding ENSG00000134595 11199 02432 300123;312000;313430 REVIEWED 1602491 SOX30 SRY (sex determining region Y)-box 30 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q33 153079301 153106027 - 156985265 157012006 - 157052687 157079428 - 6480464 18029348;16189514;15489334;15019997;12477932;11678506;10359848;18436822;22990118;21143990;21988832 11063 B4DXW7;O94993 AB022083;AB022441;ABBA01044265;AC008694;AK302162;AK308329;AMYH01015748;BC033492;CH471062;HC007288;NM_007017;NM_178424 AAH33492;BAA37146;BAA37149;BAG63529;CBH19449;EAW61593;EAW61594;NP_008948;NP_848511;O94993 Hs.744348 1682321;1796864;2134615;5022731;7186203 D5S2525;RH93130;SOX30;SOX30_1458 OTTHUMP00000160739;OTTHUMP00000160740;Sox30 protein type II;transcription factor SOX-30 APPROVED protein-coding ENSG00000039600 30635 09461 606698 REVIEWED 1319854 SOX4 SRY (sex determining region Y)-box 4 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008] 6 6 p22.3 21701951 21706829 + 21593972 21598850 + 1581119;1581304;1581305;1581306;1580863;6480464 12011571;16585165;15231650;9815146 18504433;16631117;8268656;16636670;15522200;17875931;19487295;19453261;19234109;19156145;19153074;19147588;18577562;17922414;17507571;16618720;15489334;15345747;14574404;12477932;12216117;12194848;12125983;12100890;11498591;11127205;11071752;10867006;10729834;10381369;9730625;8530483;8404853;8889548;15146197;7706298;1614875;22627767;21533022;18029348;20400479;19887623;20049565;20080751;20237496;20331975;16341674;19454010;21348951;21165564;20952589;20419098;23152540;21680105;20423819;22098624;21986941;22084397;23402613;22231735;22510499;19322201;22542805;23251334;23285187;23284291;23482931;22787120;22689055 6659 Q06945 ABBA01022279;ABBA01022280;AF070669;AF124147;AJ420500;AL136179;AMYH01016136;BC072668;BM459088;BM817788;BM822945;CF147018;CH471087;CN419098;CX873598;HY065060;NG_029166;NM_003107;X65661;X70683 AAH72668;ABZ92184;CAA46612;CAA50018;EAW55429;NP_003098;Q06945 Hs.643910 1680198;1771833;1791758;1796866;2124910;2128335;2161593;2190905 A002M13;MARC_10647-10648:1000474126:1;PMC123659P3;RH36579;RH46888;RH79983;SGC33328;SOX4_1527 EVI16 OTTHUMP00000017714;SRY-related HMG-box gene 4;ecotropic viral integration site 16;transcription factor SOX-4 APPROVED protein-coding ENSG00000124766 11200 01695 184430 REVIEWED 1319098 SOX6 SRY (sex determining region Y)-box 6 This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] 11 11 p15.3 15948371 16454494 - 15987995 16497935 - 1581307;1580007;1580863;1580857;6480464 16148004;15696967;10760285 1614875;11255018;19453261;19384854;19240061;17961134;17433257;17412698;16442531;16381901;16344560;16258006;15696972;15489336;14702039;14691456;14530442;12477932;11504872;11230166;11076863;10996314;22547066;9755172;21262861;11256614;19709629;19714249;19801982;20379614;20395365;20548944;19913121;20628086;21104366;20966410;21263153;21084391;21728837;21625884;22864933;21988832;22504420 55553 E9PN02;E9PQ67;E9PQ78;E9PQL4;P35712 ABBA01061086;AC009869;AC013595;AC027016;AC068405;AC100865;AC103794;AF309034;AF309471;AF309472;AF309473;AF309474;AF309475;AF309476;AK021785;AK097455;AK310506;AL136780;AL833302;AMYH01003407;AMYH01003408;BC029429;BC037866;BC047064;CH471064;DB080840;DB093816;NG_012881;NM_001145811;NM_001145819;NM_017508;NM_033326;X65663 AAH47064;AAK26115;AAK26243;AAK26244;CAA46614;CAB66714;CAL37472;CAL37608;CAL38234;EAW68458;EAW68459;EAW68460;NP_001139283;NP_001139291;NP_059978;NP_201583;P35712 Hs.368226 1342158;1651876;1664485;1671211;1679183;1705546;1706636;1708888;1713775;1727925;1729095;1737105;1739513;1750939;1770439;1779622;1782510;1796868;1852740;2121934;2135904;2136083;2150322;2156935;2158406;2169830;2174332;5019841 A010A46;D11S1397;D11S2336;D11S2872;D11S4042;D11S4044;G30608;G33060;G63381;RH120774;RH45425;RH65285;RH68714;RH94315;SHGC-104674;SHGC-153595;SHGC-35069;SHGC-37207;SHGC-82799;SHGC-83438;SHGC-83873;SHGC-83953;SOX6_844;STS-H69535;UniSTS:144491;WI-16902;WI-17844;WI-17892 HSSOX6;SOXD OTTHUMP00000231372;OTTHUMP00000231373;OTTHUMP00000231374;OTTHUMP00000231375;SRY-box containing gene 6;transcription factor SOX-6 APPROVED protein-coding ENSG00000110693 16421 06267 607257 REVIEWED 1320707 SOX7 SRY (sex determining region Y)-box 7 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 9709191 9716191 - 10618688 10625432 - 10581278 10588022 - 1580863;6480464 19108950;18940723;18819930;18682240;15489334;15231748;14702039;12477932;11691915;8125298;21060863;21832049;22706399;22171135;20467438;22777918 83595 B4DKV0;Q9BT81 ABBA01026889;AC105001;AJ409320;AK055556;AK223574;AMYH01018478;BC004299;BC071947;BE671627;BG740632;BT006693;BU187815;HY089489;NM_031439 AAH71947;AAP35339;BAB70955;BAD97294;CAC84226;NP_113627;Q9BT81 Hs.709543 1679483;1796870;1851338;5117010 RH65392;RH81045;SOX7;SOX7_1773 MGC10895 OTTHUMP00000115701;SOX7 transcription factor;transcription factor SOX-7 APPROVED protein-coding ENSG00000171056 18196 18087 612202 REVIEWED 1603322 SOX5 SRY (sex determining region Y)-box 5 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 12 12 p12.1 23576498 24606647 - 23685231 24715383 - 6480464 21330457;8812465;19453261;19219070;19173284;18519826;17554380;17230535;15489334;15231748;14702039;12477932;12406576;12194848;12100890;11912161;11585348;11071752;10729834;9755172;8889548;8125298;8078769;1614875;21262861;22290657;22547066;20634891;20639392;19754311;20062060;20195266;20379614;20668334;20339536;21532573;21728837;22396742;21779181;22197933;21832049;23220431;21988832;22094256 6660 F5GWL1;F5H0I3;F5H876;G3V0H1;I3L0A5;Q8N1D9 AB081588;AB081589;AB081590;AB081591;ABBA01067994;ABBA01067995;ABBA01067996;ABBA01067997;ABBA01067998;ABBA01067999;ABBA01068000;ABBA01068001;ABBA01068002;ABBA01068003;ABBA01068004;AC069208;AC087244;AC087260;AC087312;AC087319;AC087322;AC090675;AC092773;AC092830;AC092864;AC112915;AK074317;AK096569;AK098610;AK223536;AK299607;AK303970;AMYH01004329;AMYH01004330;AMYH01004331;AMYH01004332;AMYH01004333;BC014929;BC029220;BC035227;BC047665;BC060773;BC065532;BU675886;CH471094;CR456713;HC025818;NG_029612;NM_001261414;NM_001261415;NM_006940;NM_152989;NM_178010;S83308;X65662 AAB49537;AAH29220;AAH35227;AAH47665;AAH60773;ADZ15623;BAB85048;BAC05353;BAC16233;BAC16234;BAC16235;BAC16236;BAD97256;BAG53325;BAH13079;BAH14086;CAA46613;CAG32994;CBH19840;EAW96486;EAW96487;EAW96488;EAW96489;EAW96490;EAW96491;EAW96492;NP_001248343;NP_001248344;NP_008871;NP_694534;NP_821078;P35711 Hs.657542 1298188;1340375;1655256;1673008;1676095;1690494;1699952;1705172;1708268;1709058;1713119;1722839;1725881;1726719;1726825;1727463;1728491;1728557;1752535;1753829;1760087;1762357;1764893;1782690;1782720;1782798;1787570;1853608;1855515;1857528;2118974;2121906;2125929;2152939;2161354;2163351;2170567;2170772 D12S1057;D12S1591;D12S1822;D12S1942;D12S1950;D12S292;G17656;G19258;G35318;G60361;G62383;G62747;G62804;G62989;G63683;G63717;RH103584;RH120347;RH45463;RH45564;RH80021;RH80811;SHGC-106422;SHGC-107736;SHGC-108028;SHGC-146191;SHGC-148450;SHGC-155005;SHGC-155556;SHGC-155690;SHGC-79400;SHGC-80033;SHGC-84176;SHGC-85675;STS-H73926;STS-N27112;WI-18056;WI-3881 L-SOX5;MGC35153 OTTHUMP00000239955;OTTHUMP00000239958;OTTHUMP00000239959;OTTHUMP00000239960;OTTHUMP00000239961;OTTHUMP00000239962;OTTHUMP00000239963;transcription factor SOX-5 APPROVED protein-coding ENSG00000134532 11201 18086 604975 REVIEWED 1319208 SOX8 SRY (sex determining region Y)-box 8 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1240025 1245196 + 971809 976980 + 1031808 1036979 + 1580863;6480464 10684944;10662550;19369635;18512230;16582099;15616553;15489334;14702039;12732652;12665801;12477932;11483257;11157797;20211142;21890473;21988832;23000965;23739915;21532573;21906983;21833088 30812 P57073;Q9H7I9 ABBA01030336;AC009041;AE006465;AF164104;AF226675;AK024491;AMYH01007013;BC031797;CH471112;NG_009933;NM_014587;Z99757 AAF35886;AAF37424;AAH31797;AAK61260;BAB15781;CAB75612;EAW85691;EAW85692;NP_055402;P57073 Hs.243678 1646826;1731695;1791488;2124595 D16S525;PMC111037P2;STS-H16586;STS-Z41122 MGC24837 OTTHUMP00000151195;transcription factor SOX-8 APPROVED protein-coding ENSG00000005513 11203 16175 605923 REVIEWED 1322513 SOX9 SRY (sex determining region Y)-box 9 The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008] 17 17 q23 67628756 67634156 + 70117161 70122561 + 1599093;1580863;6480464;7240710 7990924 21297661;10805756;18029348;19463983;19453261;19234473;19080707;19061938;19019766;18923447;20301211;18830622;18820665;18794798;18677406;18671802;18628953;18577562;18550917;18519685;18512230;18433381;18391513;18339840;18333897;18296708;18271004;18087279;18077449;17935617;17702866;17615267;17551083;17532558;17409199;17360815;17289023;17234760;17197889;17050539;16791471;16554309;16155402;16109717;15922909;15908194;15896776;15781631;15694126;15623506;15489334;15456769;15266301;15240568;15240557;15192080;15077158;22547066;12783851;12732631;12713737;12673561;12477932;12420222;12381733;12136106;12128229;12111997;11990798;11754051;11707075;11356186;11331609;11323423;11076045;10951468;10446171;9774680;9724758;12935820;9569122;9143916;9002675;8894698;8640233;8348155;8001137;7747782;7485151;1583645;15889150;17848411;18705695;20530484;20628624;20634891;19637360;20569257;21084857;12414734;21078438;19614725;20098296;20513132;17986281;19041414;19113914;19322650;19473998;19509063;19657054;19801163;19828133;19921652;20039424;20049725;20103652;19845757;21208124;20301724;21321311;20484142;21284335;22271799;20593410;20651055;21173804;21193222;23064761;21412441;22846713;21614988;21427722;23178713;15132997;22331131;20196777;21693691;21385068;21853455;21139048;21728837;21890473;21906983;22051515;22102413;22962301;23426182;21682576;21995959;22246670;21861142;21991335;22385965;20838034;21983268;22001757;22424883;22570960;22158061;22385677;22532563;21869831;22052544;22523547;22761195;23635786;21988832;22504420;23000965;22714060;23349860;23648064;23284291;23408906;23306204;22515642;22665440;22698986;22766303;22795539;22209504;22769578 6662 P48436 ABBA01028898;ABBA01028899;AC007461;AK295455;AMYH01008610;BC007951;BC018276;BC056420;BT006875;CH471099;CS025618;NG_012490;NM_000346;S74504;S74505;S74506;Z46629 AAB32870;AAH07951;AAH56420;AAP35521;BAG58389;CAA86598;CAI61686;EAW89102;NP_000337;P48436 Hs.647409 1680238;1689127;1729097;1791760;1794660;1794716;2148985;5117564;5492338 GDB:580585;MARC_71570-71571:1249593890:3;PMC123659P4;PMC34415P1;PMC351321P1;RH79827;RH91806;SHGC-35378;Sox9 CMD1;CMPD1;SRA1 OTTHUMP00000232537;SRY (sex-determining region Y)-box 9 protein;SRY-related HMG-box, gene 9;transcription factor SOX-9 APPROVED protein-coding ENSG00000125398 11204 06427 114290;608160 REVIEWED 1314926 SP140 SP140 nuclear body protein 2 2 2 q37.1 224866569 224954088 + 230798690 230886174 + 231090445 231177930 + 1580863;6480464 20332261;8695863;8910577;18758461;18029348;12477932;12368356;12887892;20731705;21102463;22700719;21833088;11331592;22505724;23128233;19149577 11262 B4DVW8;E7ESH9;E7EUR5;E9PFJ6;F5GY84;F8W6B8;Q13342;Q3KR17;Q8IWJ1 AA741304;ABBA01050128;ABBA01050129;ABBA01050130;AC009949;AC009950;AK301267;AK301317;AMYH01011550;BC038091;BC054890;BC070160;BC105743;BC105744;BC105960;CH471063;DC391925;NM_001005176;NM_001278451;NM_001278452;NM_001278453;NM_007237;U36499;U36500;U63420 AAB18616;AAB18617;AAC50817;AAH38091;AAH54890;AAH70160;AAI05744;AAI05745;AAI05961;AAX88868;AAX93282;BAG62830;BAG62868;EAW70920;EAW70921;EAW70922;NP_001005176;NP_001265380;NP_001265381;NP_001265382;NP_009168;Q13342 Hs.632549 1340264;1651001;1685233;2108517;2170830;7187481 D2S172;RH18044;SHGC-34902;SHGC-401;SP140_9249 LYSP100;LYSP100-A;LYSP100-B;MGC126440 OTTHUMP00000204294;OTTHUMP00000204295;OTTHUMP00000204296;OTTHUMP00000207180;lymphoid-restricted homolog of Sp100;lymphoid-specific SP100 homolog;nuclear autoantigen Sp-140;nuclear body protein SP140;speckled 140 kDa protein-coding ENSG00000079263 17133 09780 608602 VALIDATED 732035 SP1 Sp1 transcription factor The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 q13.1 52060246 52096497 + 53773979 53810230 + 1580863;6480464;6484113;6907045 15523672;20127720;3139301;17827154;10816420;12169688;14580349;12560508;18029348;19438726;19372209;19307576;19302979;19245816;19193796;19164283;19164126;19154347;19147754;19141126;19138671;19132086;19131339;19124744;19120021;19118563;19116449;19115249;19111069;19106100;19070619;19064990;19064501;19049975;18996451;18990686;18930904;18852899;18850004;18843277;18812468;18811981;18809386;18801742;18790604;18786141;18775869;18772363;18769160;18765668;18725933;18714402;18706393;18701434;18673381;18660489;18655767;18654640;18653454;18640248;18619531;18604866;18593937;18593936;18588874;18579560;18572193;18556457;18555711;18543253;18525291;18524846;18522535;18519037;18509005;18483225;18449948;18423053;18419748;18396147;18391986;18384375;18378679;18372343;18365874;18353772;18348986;18343609;18329191;18328811;18314536;18298657;18261712;18258854;18243132;18226133;10393239;18199680;18195733;18192274;18173747;18171990;18165235;18068676;18065760;18064606;18053794;18034423;18031462;17990281;17965828;17958743;17938207;17927842;17920708;17916230;17894944;17893646;17890878;17889508;17885207;17855482;17851584;17804646;17719138;17705132;17698844;17689681;17681019;17670825;17656364;17652716;17616668;17609267;17600309;17597815;17540780;17530395;17384146;17373631;17343736;17321722;17307335;17297470;17289023;17287525;17272513;17264126;17224162;17215518;17202341;17192956;17161377;17046201;17026958;17014845;16965966;16964286;16964243;16943418;16883603;16879824;16815888;16807381;16807373;16806531;16760259;16740634;16734381;16728402;16715126;16714763;16714330;16690926;16677608;16675542;16672217;16671893;16631833;16603733;16582099;16575904;16565233;16529657;16516150;16442295;16413224;16410262;16378688;16377629;16361535;16339759;16304843;16260592;16260418;16248979;16245312;16158248;16118214;15998736;15987735;15979574;15970595;15955096;15951564;15908479;15907486;15905415;15878880;15863387;15850836;15828018;15821099;15816870;15790310;15788387;15777284;15760895;15735752;15709764;15706661;15694838;15691849;15666829;15665278;15650166;15647279;15637147;15563462;15531587;15528990;15528196;22315456;22427654;22431021;12485937;12477932;12475396;12466967;12458222;12439750;12433697;12427542;12421830;12384434;12379120;12378384;12359731;12358602;12324467;12297462;12239153;12228247;12228234;12221105;12213324;12200149;12186868;12151407;12151347;12134007;12133007;12105191;12091390;12088866;12077144;12055073;12054741;12052832;12050359;12034813;12021324;12004059;11997063;11988536;11914583;11909966;11904305;11896613;11884455;11867623;11856466;11853549;11850421;11844788;11842244;11839795;11839742;11796707;11585914;11432852;11294852;11274368;11237613;11114293;11022037;10987820;10976766;10973950;10919277;10878024;10850422;10825178;10816575;10809237;10747986;10720440;10704334;10681512;10644726;10547281;10506225;10471301;10644332;10457364;10446910;10393859;10362258;10361124;10224053;10215616;10103059;10089212;10082523;9915847;9882443;9819401;9748305;9742090;9694791;9685344;9651398;9566873;9535906;9525610;9525578;9492043;9472608;9388268;9372921;9353275;9343410;9329821;9278494;9271438;9153193;9121429;9065444;8849451;8845379;8800208;8668525;8657142;8657141;8628270;8626793;8422676;8411386;8404040;8244404;8230415;8207805;7933095;7732011;7690421;7666561;7622044;7621073;7592727;7565695;7559627;7541039;3319186;2657100;2512012;1924310;1912570;1662663;1583736;17150965;16120388;15725353;15353294;15142377;15869407;9885563;12176973;12706836;10617653;11018012;14623863;15661808;15838506;15780936;8327494;15574328;15837427;15619633;15019994;15674334;15550242;14657503;15489334;15468069;15466927;15466008;15462673;15367601;15345676;15342781;15339794;15302935;15302882;15282343;15247906;15217947;15194684;15180327;15118068;15117948;15111490;15100293;15094066;15084343;15064717;15033443;15024015;15001984;14977835;14970236;14766015;14744869;14744793;14742449;14701757;14676314;14670973;14660675;14652633;14645238;14608051;14568562;14561739;14532290;14514691;13680213;12972613;12954631;12943729;12933821;12911579;12888575;12855699;12855685;12847250;12847090;12818425;12811817;12804776;12769819;12753906;12748179;12732645;12730302;12694199;12682078;12670868;12665582;12665574;12664565;12642036;12634356;12624107;12615703;12612060;12576329;12569082;12560236;12513689;12509426;19112177;19505873;22711357;22213398;22682030;22266860;22291595;22318606;22354938;22402494;22412893;22415975;22455954;22496486;22564704;21248046;21159880;20160399;20384626;16931573;17075044;17124180;18948152;19652226;19661285;20211142;20819778;20851106;20508969;20515446;20807505;17471507;17623675;17656465;17906119;17906698;17961220;17984071;21193408;21296692;20699577;20971080;21208652;20888937;20950431;20926649;14988427;16439465;16478997;16651265;18632985;19401466;20180024;20360975;20946882;19563076;20091743;20518744;20538607;20528922;22580340;12192045;12665570;16036112;16121030;16201967;16288017;16298343;16314315;20052536;19062177;20936779;12771217;14710355;14979875;15109260;15710382;17024177;17225865;17418410;17474147;17786189;17927860;18293083;19105596;19115260;19296249;19339282;19558215;19588484;19621387;19633291;19666599;19703278;19747485;19755487;19758310;19772640;19783902;19816048;19875459;19994725;20047772;20061391;20086170;20102333;20121949;20141633;20144149;20149781;20150555;20351094;20381594;20383178;2833704;7824954;8463313;20591193;22718198;20372080;20506264;21097497;21130740;21167276;17344216;20335021;20385359;20385708;20570896;20599619;21411560;17260018;17312152;21056687;21338575;21360626;20963645;11158299;11237594;11517158;11598016;15317818;15557281;15651981;15713621;15722551;15781457;15849318;18202149;18215124;18249093;18270252;18281035;18310298;18338249;18368381;20974858;10235267;10409740;10651903;11030335;15087465;15155736;18003922;18059533;18078517;21242964;21248772;21345218;21316605;22821729;21554857;17556661;17717078;20697349;21123453;21170990;21184844;21465530;21731707;21798247;20072153;21412054;21518763;20629990;21246532;21683812;21684359;18083845;20861353;21611785;22855260;22992725;23137637;22065068;23464785;23601184;9407313;23184467;23455922;21659522;20874724;21983342;18239466;22049076;21795679;21872883;21922223;20969766;21076612;21528154;21309719;21469139;21925952;21753780;22534375;21555589;22001409;22139845;22169644;22227581;21636851;22383952;22419072;22464952;22500101;21324108;21837748;21919647;22125028;22023388;22099172;22113199;22034194;22360859;22342309;21184768;21325822;21335086;21604172;21761199;21822301;21928351;21948504;22028617;22030357;22033265;22036763;22086197;22105759;22190856;22227038;22282354;22297492;22382027;22420942;22465120;22307793;16818630;23133636;23158992;23168245;23329847;22615874;10391891;17486080;17766039;22399227;23047008;23250796;23013401;23176121;23131565;23159876;23190608;22956772;23209644;23300749;23523134;23537647;22984509;23028678;22700966;22718761;22826432;17661632;19204000;19275580;19275588;20139419;20347598;22211660;22229121;23291272;23369005;23104175 6667 E4Z9M7;G5E9M8;H3BUU5;H3BVI2;P08047 AB039286;AB209678;ABBA01008331;ABBA01008332;ABBA01008333;ABBA01008334;ABBA01008335;ABBA01008336;ABBA01008337;AC068889;AC073611;AF252284;AF255681;AF255682;AF261690;AI282745;AI561005;AJ272134;AK311995;AL442093;AMYH01004479;AMYH01004480;AW028976;BC012008;BC043224;BC062539;BC078158;BF434304;BF436290;BF671559;BM463205;BQ072120;BQ431320;BQ774060;CD104746;CH471054;CS691415;FJ949572;FN908228;J03133;NG_030361;NM_001251825;NM_003109;NM_138473 AAA61154;AAF67726;AAF75063;AAF78780;AAF78781;AAH43224;AAH62539;ACR22508;BAB13476;BAD92915;BAG34933;CAB75345;CAP12210;CBM42955;EAW96698;EAW96699;EAW96700;NP_001238754;NP_003100;NP_612482;P08047 Hs.620754;Hs.649191 1649506;1681181;1685872;1744015;1777894;1791542;1798216;2117643;2125383;2170472;2184966 A006M45;D12S1882;G15947;GDB:384842;PMC114562P1;RH46968;RH65088;RH93219;SHGC-33077;SHGC-35173;SP1_2361 OTTHUMP00000242705;OTTHUMP00000242706;specificity protein 1;transcription factor Sp1 APPROVED protein-coding ENSG00000185591 11205 01796 189906 REVIEWED 1604252 SP140L SP140 nuclear body protein-like 2 2 2 q37.1 224968052 225044599 + 230900138 230976689 + 231191894 231268445 + 6480464 16344560;14702039;12477932;20800603;20379614;21832049;22118674;19953087;21906983;22505724 93349 H7BYP4;Q9H930 ABBA01050128;AC009949;AK023116;AMYH01011550;AU130836;BC004921;BC105007;BC143624;BQ232706;BQ690359;CH471063;CR987282;DB240458;DW428200;HA637636;NM_138402 AAH04921;AAX88869;BAB14413;CAZ39540;EAW70924;EAW70925;EAW70926;NP_612411;Q9H930 Hs.589661 1337617;1699732;5037552 D2S256;D8S2279;RH103472 MGC132667 OTTHUMP00000207580;OTTHUMP00000224456;nuclear body protein SP140-like protein protein-coding ENSG00000185404 25105 14299 PROVISIONAL 1320919 SP110 SP110 nuclear body protein The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008] 2 2 q37.1 230741896 230792932 - 231033634 231090444 - 1580863;6480464;7240710 22700719;7693701;18758461;17883869;17510920;17287948;17149599;16960008;16816019;16803959;16648851;16344560;15489334;15308735;15063762;14559998;12539042;12477932;10913195;10388521;16169070;20196868;20331378;20332261;20353833;20211142;21033425;20301448;21536091;21222611;22522001;22691368;21397050;21900206;18239623;18029348;23129390;23251661;18187620;22621957 3431 C9JZQ4;E7EM70;E7ER70;E9PHK4;G5E9C0;Q9HB58 ABBA01050130;AC009950;AF280094;AF280095;AK026488;AK128274;AK301097;AL579921;AL832300;AMYH01011550;BC012447;BC019059;BG231996;CA432211;CH471063;DA958469;DB474530;DQ124709;DQ124712;DQ124713;DQ124714;DQ124715;L22343;NG_008295;NM_001185015;NM_004509;NM_004510;NM_080424 AAD13402;AAF99318;AAG09826;AAH12447;AAH19059;AAX93281;AAZ23281;AAZ23282;AAZ23283;AAZ23284;AAZ23285;ADZ16028;BAG62696;EAW70915;EAW70916;EAW70917;EAW70918;EAW70919;NP_001171944;NP_004500;NP_004501;NP_536349;Q9HB58 Hs.145150 1662706;1708560;2126751;2159478;2175191;5111114 G09664;RH45567;RH66657;RH78723;SGC32635;SHGC-85063 FLJ22835;IFI41;IFI75;IPR1;VODI OTTHUMP00000164263;OTTHUMP00000204405;OTTHUMP00000204406;OTTHUMP00000204419;interferon-induced protein 41, 30kD;interferon-induced protein 41/75;interferon-induced protein 75, 52kD;phosphoprotein 41;phosphoprotein 75;sp110 nuclear body protein;speckled 110 kDa;transcriptional coactivator Sp110 APPROVED protein-coding ENSG00000135899 5401 06832 235550;604457;607948 REVIEWED 1347414 SP2 Sp2 transcription factor This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008] 17 17 q21.32 43328515 43361322 + 45973516 46006323 + 1580863;6480464 1341900;18029348;17071613;16467376;16201967;15953604;15788387;15489334;15126343;14726517;14702039;12477932;10547281;10454592;9730617;7584044;17827154;19482358;19698806;19834535;15987735;21832049;18051367 6668 Q02086;Q9BRW5 ABBA01041147;AC018521;AK097532;AMYH01008451;BC005914;BC016680;BC033814;CH471109;D28588;DB451570;M97190;NM_003110 AAA36629;AAH05914;AAH16680;AAH33814;ADZ15566;BAA05923;EAW94782;EAW94783;EAW94784;EAW94785;EAW94786;EAW94787;NP_003101;Q02086 Hs.514276 1690228;1723869;1734432;1779430;1796872;2159252;2160787;2184487;5022578;5109281 D17S1404E;D17S2015;D1S1423;D1S1425;RH118670;RH17404;RH25284;SHGC-153414;SP2_846;WI-22192 OTTHUMP00000196580;transcription factor Sp2 APPROVED protein-coding ENSG00000167182 11207 03481 601801 REVIEWED 1348100 SP100 SP100 nuclear antigen This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011] 2 2 q37.1 230989115 231118561 + 231280871 231410317 + 1580863;6480464 17081983;14647468;9636147;9636146;15247905;8810287;9230084;17332504;19279115;17000644;16873258;16415175;16344560;16189514;16177824;15882967;15592518;15489334;14702039;12477932;11909962;11574059;11313457;10921892;10766566;10212234;9973607;9412458;8695863;2258622;11716541;11792325;18691969;22086178;20936779;11112690;20512085;15017387;17245429;17491593;18029348;20130140;20211142;21118961;21383994;21274506;21471311;21252943;22863883;22939629;21734036;22278248;20379614;21880768;15608651;21172801;21693764;21779164;21906983;19471022;20805487;21044950;22419217;15767676;21890473;21988832;23000965;23221561 6672 C9JBL0;E7EUA7;E9PBK3;E9PHV6;H0Y4R8;H7C1G8;H7C4B4;Q6ZMK3;Q96F70 AA810108;ABBA01050126;ABBA01050127;ABBA01050128;AC009949;AC010149;AF056322;AF076675;AF146342;AF255565;AF378670;AI886092;AK090565;AK091898;AK126529;AK160379;AK293373;AK304205;AMYH01011550;AW978040;BC011562;CH471063;CR749288;DA442074;DA562355;L79986;L79987;L79988;L79989;M60618;NG_029842;NM_001080391;NM_001206701;NM_001206702;NM_001206703;NM_001206704;NM_003113;U36501;X95472 AAA35537;AAC39790;AAC50743;AAF39781;AAF43098;AAH11562;AAK51202;AAK57703;AAL77438;AAL77439;AAL77440;AAL77441;AAX88870;AAY14879;BAD18722;BAG56886;BAG65081;CAA64744;CAH18143;EAW70927;EAW70928;EAW70929;NP_001073860;NP_001193630;NP_001193631;NP_001193632;NP_001193633;NP_003104;P23497 Hs.369056 1668181;1676928;1757289;1773426;1773870;1794794;1794796;1920252;2123586;2157297;2182535;5015881;5037552 D2S2624;D2S2641;D8S2279;GDB:335751;PMC56901P1;PMC56901P2;REN30944;RH68107;RH70945;RH93607;SHGC-144697;SHGC-60177;WIAF-2192 DKFZp686E07254;FLJ00340;FLJ34579;lysp100b OTTHUMP00000164262;OTTHUMP00000204340;OTTHUMP00000204342;OTTHUMP00000204343;OTTHUMP00000204344;OTTHUMP00000204345;SP100-HMG nuclear autoantigen;lysp100b;nuclear autoantigen Sp-100;nuclear dot-associated Sp100 protein;speckled 100 kDa APPROVED protein-coding ENSG00000067066 11206 06844 604585 REVIEWED 2302538 SP3P Sp3 transcription factor pseudogene 13 13 13 q31.3 70853721 70857357 - 88810996 88817458 - 90012120 90015756 - 15474306;12477932 160824 ABBA01027258;AL163533;AL354997;AMYH01005279;AY441959;BC036697;NG_004748 Hs.407509 1793904;2188795;2188811 G66493;G66505;PMC305603P1 pseudo 35430 INFERRED 2303677 SP9 Sp9 transcription factor 2 2 2 q31.1 168813313 168815760 + 174908067 174910514 + 175199821 175202268 + 6480464 15815621 100131390 P0CG40 ABBA01062187;AC018470;AMYH01011281;CH471058;NM_001145250 EAX11147;NP_001138722;P0CG40 Hs.516603 ZNF990 OTTHUMP00000197236;Sp9 transcription factor homolog;Transcription factor Sp9;zinc finger protein 990 APPROVED protein-coding 30690 PROVISIONAL 731794 SP4 Sp4 transcription factor 7 7 p15.3 21434214 21520687 + 21467689 21554162 + 1581308;1581309;1580019;1580863;6480464 15972724;15907824;11007485 7559627;12560508;19401786;18593936;17356515;16574784;15788387;15345676;12853948;12477932;12107411;11943774;11438531;10570957;7800480;7607696;1454515;10547281;12004059;20538607;19656107;19934275;20038947;20125088;20298200;20487506;15883203;16201967;20634195;15781457;22614877;21919647;22017217;23103227 6671 C9JUS7;F8WB93;Q02446 AACC02000007;ABBA01056682;ABBA01056683;AC004595;AK289728;AK296749;AMYH01017105;BC015512;BC109300;BC109301;BQ639622;CH236948;CH471073;NM_003112;X68561 AAI09301;AAI09302;ABZ92432;BAF82417;BAG59332;CAA48563;EAW93733;NP_003103;Q02446 Hs.88013 1338231;1657972;1658389;1668685;1722825;1851526;2137691;2142025;2218050;7185218 D7S2562;G01876;G60354;GDB:1317532;GDB:1318416;RH46964;SHGC-55987;SP4;SP4_3465 HF1B;MGC130008;MGC130009;SPR-1 OTTHUMP00000120032;transcription factor Sp4 protein-coding ENSG00000105866 11209 02764 600540 VALIDATED 1351516 SPA17P1 sperm autoantigenic protein 17 pseudogene 1 10 10 10 q22.2 70431544 70432237 - 76811981 76812669 - 77141975 77142668 - 12393185;22747683 171424 ABBA01020254;AC010997;AF335424;AMYH01002841;NG_001328 Sp17-2 pseudo 23224 INFERRED 1319818 SP3 Sp3 transcription factor This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010] 2 2 q31 174481504 174538309 - 174771187 174830430 - 1580863;6480464 16760259;7559627;14667819;16696853;9278495;12560508;19309563;19212434;19064501;18725933;18604866;18593936;18543253;18522535;18496767;18393243;18348986;18343609;18342022;18329191;18314536;18195733;18065760;18053089;17894944;17698844;17681019;17652716;17616668;17548428;17540780;17343736;17297470;17241874;16965966;16807381;16806531;16677608;16672217;16671893;16603733;16574784;16529657;16339759;16150893;16081043;16024108;15987735;15979574;15951564;15831526;15821099;15816870;15790310;15777284;15747776;15706661;15666829;15572681;15523672;15494207;15489334;15474306;15466927;15247906;15247228;15118068;15111490;15107420;14970236;14767558;14767471;14766015;14742449;14697235;14645238;14623259;14608051;12972613;12943729;12911579;12855685;12837748;12818425;12730302;12694199;12664565;12576329;12509426;12477932;12419227;12411611;12378384;12356736;12297462;12297010;12186868;12176973;12151407;12133007;12071960;12054741;12004059;11867623;11850421;11839742;11796707;11773047;11447232;11237613;10816575;10547281;9388268;9329821;9224612;8938460;8896459;8845379;7800480;7732011;1454515;1341900;15869407;19505873;22682030;12091390;15619633;15780936;15546615;12771217;19339282;17906119;20519498;20538607;16651265;16734381;20180024;20518744;17124180;20462637;11517158;12200149;12665570;15781457;16201967;20974858;21235713;21248046;20442780;23223231;17130167;21554857;20385708;21335086;21604172;23464785;22318606;19471022;21693764;21906983;21919647;22139845;22464952;10391891;22311708;23326307;23523134;23133566;23401853;22871965;23000412;23028678 6670 B7ZLN9;H0Y6K5;H0Y7L6;Q02447;Q59FX5;Q86TP0 AA706229;AB209334;ABBA01062178;ABBA01062179;ABBA01062180;AC016737;AC093399;AF494280;AJ310752;AK304199;AMYH01011276;AMYH01011277;AMYH01011278;AW204666;AW295583;AY070137;AY251018;AY441957;AY441958;BC042945;BC126414;BC143928;BQ010796;BX648857;CH471058;CR749323;M97191;NG_029153;NM_001017371;NM_001172712;NM_003111;X68560 AAA36630;AAH42945;AAI26415;AAI43929;AAL58086;AAL58087;AAL58088;AAM12875;AAP03059;AAR30505;AAR30506;ADR83384;BAD92571;BAG65079;CAA48562;CAC34575;CAH18178;EAX11152;EAX11153;EAX11154;EAX11155;NP_001017371;NP_001166183;NP_003102;Q02447 Hs.531587 1708794;1778659;1793904;2110757;2115233;2168785 PMC305603P1;RH65732;RH65817;RH68948;SHGC-81056;SP3_2024 DKFZp686O1631;SPR-2;SPR2 GC-binding transcription factor Sp3;OTTHUMP00000163171;OTTHUMP00000205122;OTTHUMP00000220849;specificity protein 3;transcription factor Sp3 APPROVED protein-coding ENSG00000172845 11208 03483 601804 REVIEWED 1318302 SP5 Sp5 transcription factor 2 2 2 q31.1 165188525 165191166 + 171280107 171282743 + 171571857 171574498 + 6480464 16380080;15820306;15146197;12477932;16201967 389058 Q6BEB4 AB096175;ABBA01014917;AC007405;AMYH01011257;AW450640;BC069026;BQ064677;CH471058;CN275885;NM_001003845 AAI72750;BAD34944;EAX11238;EAX11239;NP_001003845;Q6BEB4 Hs.368802 OTTHUMP00000204954;transcription factor Sp5 protein-coding ENSG00000204335 14529 18088 609391 VALIDATED 1315575 SP6 Sp6 transcription factor SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 42375084 42386045 - 43277279 43288239 - 45922280 45933240 - 6480464 15489334;14551215;12477932;11087666;23535033 80320 B3KXP2;Q3SY56 ABBA01041146;AC003665;AC018521;AK127707;AK127850;AMYH01008451;BC103951;BC103952;BC103953;BC103954;CH471109;NM_001258248;NM_199262 AAI03952;AAI03953;AAI03954;AAI03955;BAG54554;BAG54586;EAW94789;NP_001245177;NP_954871;Q3SY56 Hs.253603 1682323;1703386;2219706 RH92416;SHGC-68687;SP6__5287 EPFN;EPIPROFIN;KLF14;MGC119662;MGC119663;MGC119664;MGC119665 Kruppel-like factor 14;OTTHUMP00000162947;krueppel-like factor 14;transcription factor Sp6 APPROVED protein-coding ENSG00000189120 14530 12269 608613 VALIDATED 1346531 SPACA5 sperm acrosome associated 5 X X X p11.23 52182559 52187955 + 47748678 47754074 + 47863734 47869130 + 16382448;12975309 389852 Q96QH8 AC244636;AF217622;AMYH01022266;AMYH01022267;AX359709;AY358844;BX279755;CH471164;NM_205856;Z98304 AAQ13890;AAQ89203;CAD23344;EAW59341;NP_995328;Q96QH8 Hs.319319 1702042 DXS6616 LYC5;LYZL5;SLLP2;SPACA5B;UNQ6288;dJ54B20.3 OTTHUMP00000023232;PNPK6288;SLLP-X;Sperm Lysozyme-Like Protein 2;lysozyme-like protein 5;sperm acrosome-associated protein 5;sperm-specific lysozyme-like protein X protein-coding ENSG00000171489 31353 10159 300593 VALIDATED 1603416 SPACA5B sperm acrosome associated 5B X X p11.23 47871547 47876943 + 47990039 47991995 + 16382448;15772651;12975309 729201 Q96QH8 ABBA01052437;AC244636;AF217622;AL356464;AMYH01022268;AY358844;NM_001079900 AAQ13890;AAQ89203;CAI40526;NP_001073369;Q96QH8 Hs.712503 SPACA5 OTTHUMP00000023238;SLLP-X;lysozyme-like protein 5;sperm acrosome-associated protein 5;sperm-specific lysozyme-like protein X protein-coding ENSG00000171478 19142 PROVISIONAL 736995 SP7 Sp7 transcription factor This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010] 12 12 q13.13 52006626 52015804 - 53720359 53730004 - 727208;1580863;6480464 11792318 20579626;19079262;18932205;18829486;18777089;18495459;18482578;18471237;17352693;17311298;17303075;17206379;16467978;15489334;15474293;14604442;12674332;12477932;21078438;19019468;19453261;19801982;19927124;20200978;21880893;22869368;21212767;21351630;21558934;21777568;22056560;21931789;21898406;22504420;23457570;23159876;22467200 121340 F8VV67;Q8TDD2 ABBA01008325;AC073611;AF466179;AF477981;AK128520;AMYH01004479;AY150673;AY150674;BC101549;BC113613;CH471054;NG_023391;NM_001173467;NM_152860 AAI01550;AAI13614;AAL84281;AAN85556;AAN85557;AAO33377;ABZ92092;BAG54688;EAW96695;EAW96696;EAW96697;NP_001166938;NP_690599;Q8TDD2 Hs.209402 1339529;1792660;1793768 D12S1604;PMC156282P2;PMC280673P1 MGC126598;OI11;OI12;OSX;osterix OTTHUMP00000242639;OTTHUMP00000242702;transcription factor Sp7;zinc finger protein osterix APPROVED protein-coding ENSG00000170374 17321 05971 606633;613849 REVIEWED 1344211 SPACA1 sperm acrosome associated 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008] 6 6 6 q15 89175410 89194450 + 88814226 88833269 + 88757507 88776550 + 6480464 17903301;15489334;14574404;12477932;11870081;10898932;10735589;20424473 81833 Q9HBV2 ABBA01040515;AF203447;AL136096;AMYH01016497;BC029488;CH471051;HC007290;NM_030960 AAG31422;AAH29488;CBH19450;EAW48577;NP_112222;Q9HBV2 Hs.161241 2219708 SPACA1_3626 MGC32952;SAMP32 OTTHUMP00000016837;sperm acrosomal membrane-associated protein 32;sperm acrosome membrane-associated protein 1 APPROVED protein-coding ENSG00000118434 14967 15419 612739 VALIDATED 1352459 SPAG10 sperm associated antigen 10 1580863 9546740 54740 P78328 Y11718 CAA72405;P78328 hP47 protein-coding 14528 1353517 SPA17 sperm autoantigenic protein 17 This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009] 11 11 q24.2 124048950 124069900 + 124543740 124564690 + 1580863;6480464 8688458;18779750;17230514;16344560;15489334;15381930;15257753;14712480;14566839;12739786;12530914;12477932;12393185;12213290;11415432;10591629;9378618;7578682;7525387;19604394;19685492;19744347;20712874;18421703;23137323;21139048 53340 Q05D07;Q15506 ABBA01031254;AF334735;AF334810;AK307271;AK311806;AMYH01004103;AP000890;AP001524;BC019224;BC032457;CH471065;DA511916;NM_017425 AAH19224;AAH32457;AAK20878;AAK28125;BAG34749;EAW67592;NP_059121;Q15506 Hs.286233 1700996;2123192 031XG1;RH104125 CT22;SP17;SP17-1 OTTHUMP00000231527;OTTHUMP00000231528;cancer/testis antigen 22;sperm protein 17;sperm surface protein Sp17 APPROVED protein-coding ENSG00000064199 11210 12272 608621 REVIEWED 1315441 SPACA3 sperm acrosome associated 3 17 17 q11.2 28342995 28349005 + 31318882 31324892 + 1580863;6480464 16150577;5154881;11591365;3470418;16014814;15489334;15475442;12975309;12606493;12477932;19945174;21139048 124912 E9PF91;Q8IXA5 ABBA01000735;ABBA01000736;AC003687;AF099029;AF216311;AMYH01008347;AY358653;BC029867;BC100886;BC100887;CH471147;NM_173847 AAH29867;AAI00887;AAI00888;AAK01478;AAP97222;AAQ89016;EAW80217;EAW80218;NP_776246;Q8IXA5 Hs.434112 1700025M08Rik;ALLP17;CT54;LYC3;LYZL3;MGC119058;SLLP1 OTTHUMP00000163796;OTTHUMP00000163797;OTTHUMP00000163798;cancer/testis antigen 54;lysozyme-like acrosomal sperm-specific secretory protein ALLP-17;lysozyme-like protein 3;lysozyme-like sperm-specific secretory protein ALLP17;sperm acrosome membrane-associated protein 3;sperm lysozyme like protein 1;sperm lysozyme-like protein 1;sperm protein reactive with ASA;sperm protein reactive with antisperm antibodies protein-coding ENSG00000141316 16260 15420 612749 PROVISIONAL 1343720 SPACA4 sperm acrosome associated 4 19 19 19 q13.33 45974868 45975839 + 53801812 53802783 + 49110000 49110971 + 6480464 15489334;12975309;12788941;12477932 171169 Q8TDM5 ABBA01032981;AC022154;AF353721;AMYH01009904;AY358387;BC047334;CH471177;CS072277;HC007292;HC044583;NM_133498 AAH47334;AAL83950;AAQ88753;CAI93415;CBH19451;CBH30621;EAW52357;NP_598005;Q8TDM5 Hs.122599 SAMP14 sperm acrosomal membrane protein 14;sperm acrosomal membrane-associated protein 14;sperm acrosome membrane-associated protein 4 protein-coding ENSG00000177202 16441 15421 609932 VALIDATED 1316919 SP8 Sp8 transcription factor The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 7 7 7 p21.2 20807385 20812013 - 20788426 20793030 - 20821894 20826508 - 1580863;6480464 16344560;15533246;15489334;14702039;14597661;12477932;20339536;20386566;20211142;20634891 221833 Q8IXZ3 AACC02000007;ABBA01056676;AC005060;AC005251;AI632278;AK056857;AK290465;AK299947;AK307969;AMYH01017103;AMYH01017104;AY167047;AY167048;BC038669;CH236948;CH471073;DA492955;NG_029244;NM_182700;NM_198956 AAH38669;AAO38028;AAO38029;BAB71297;BAF83154;BAG61776;EAW93729;EAW93730;EAW93731;EAW93732;NP_874359;NP_945194;Q8IXZ3 Hs.195922 BTD OTTHUMP00000120017;OTTHUMP00000202034;specificity protein 8;transcription factor Sp8 APPROVED protein-coding 19196 12208 608306 REVIEWED 1604666 SPAG11A sperm associated antigen 11A 8 8 p23.1 7742812 7758729 + 7705402 7721319 + 6480464 16421571;12477932;11259252;10698202;8167223 653423 C9IZU7;C9JP82;H0YEK6;J3KR45;Q6PDA7 ABBA01152677;ABBA01226780;AC130365;AF168618;AF168619;AF168620;AF170797;AMYH01018383;AMYH01018384;AMYH01018385;AMYH01018386;AMYH01018387;AMYH01018388;BC058833;BC125141;NM_001081552 AAF37188;AAF37189;AAF37190;AAF37191;AAH58833;NP_001075021;Q6PDA7 Hs.559506 1681249;1786570;1786602;2135579;2144718 D8S2060;RH92070;SHGC-11992;SHGC-132077;SHGC-143062 EDDM2A;HE2 OTTHUMP00000222025;OTTHUMP00000222026;epididymal protein 2A;human epididymis-specific protein 2;sperm antigen HE2;sperm-associated antigen 11A protein-coding ENSG00000178287 33342 VALIDATED 1606982 SPACA7 sperm acrosome associated 7 13 13 13 q34 93856057 93914326 + 112078670 112137002 + 113030651 113089009 + 6480464 15489334;15057823;12477932;20379614;22495889 122258 Q5T8L4;Q5T8L5;Q5T8L6;Q96KW9 ABBA01019846;AI219896;AK130866;AL160033;AMYH01005388;BC016750;CH471085;NM_145248 AAH16750;EAX09162;NP_660291;Q96KW9 Hs.97592 1777228 D13S1187 C13orf28;FLJ27356 OTTHUMP00000018722;OTTHUMP00000018725;protein SPACA7;putative uncharacterized protein C13orf28;sperm acrosome-associated protein 7 APPROVED protein-coding ENSG00000153498 29575 14022 VALIDATED 5490491 SPAG5-AS1 SPAG5 antisense RNA 1 17 26926151 26944395 + 100506436 ABBA01015052;AC005726;AK098638;AL157421;AMYH01008279;AMYH01008280;BC001556;BG723958;BX089040;DB457167;NR_040012 Hs.743630 1667701;1678601;1683150;1734434;1847515;2123029;2166045 D17S1405E;G19761;RH10564;RH25327;SHGC-12628;SHGC-31911;SHGC-32514 DKFZp434K129 APPROVED miscrna 41140 VALIDATED 1352554 SPAG11B sperm associated antigen 11B This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 8 8 p23.1 7292686 7308602 - 7305276 7321192 - 1580863;6480464 8167223;10698202;15229135;14662784;12477932;12193388;11259252;10819450;8418812;1693137;19535787;21933954 10407 A8MZA0;E9PAK7;H0YF39;Q6PDA7;Q9H4Q2 AA694479;ABBA01138827;AC130360;AF168616;AF168617;AJ628017;AJ635328;AMYH01018319;AY005129;NG_029571;NM_016512;NM_058200;NM_058201;NM_058202;NM_058203;NM_058206;NM_058207 AAF37186;AAF37187;AAG21878;AAG21879;AAG21880;AAG21881;AAG21882;AAG21883;AAG21884;AAG21885;AAG21886;AAI60085;CAF31328;CAG25732;NP_057596;NP_478107;NP_478108;NP_478109;NP_478110;NP_478113;NP_478114;Q08648 Hs.2717 1681249;1786570;1786602;2135579;2144718 D8S2060;RH92070;SHGC-11992;SHGC-132077;SHGC-143062 EDDM2B;EP2;EP2C;EP2D;HE2;HE2C;MGC61846;SPAG11 OTTHUMP00000159517;OTTHUMP00000159518;OTTHUMP00000159596;OTTHUMP00000159597;OTTHUMP00000229575;OTTHUMP00000229576;OTTHUMP00000229577;epididymal protein 2;epididymal protein 2B;human epididymis-specific protein 2;sperm antigen HE2;sperm associated antigen 11;sperm-associated antigen 11B APPROVED protein-coding ENSG00000164871 14534 07583 606560 REVIEWED 734255 SPAG4 sperm associated antigen 4 The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. [provided by RefSeq, Jul 2008] 20 20 20 q11.21 30952104 30957260 + 33667223 33672379 + 34203809 34208965 + 730131;1580863;6480464 9691178 14614621;12477932;11780052;11076863;10373309;22990118 6676 C9JJZ6;Q5JX49;Q9NPE6 ABBA01019153;AF043344;AF262992;AF262993;AL109827;AMYH01011875;BC143783;CH471077;NM_003116 AAC32052;AAF75267;AAF75268;AAI11379;CAB87609;EAW76191;NP_003107;Q9NPE6 Hs.123159 1749363;1814824;1815298;1816272;1816436;1820104;1838566;1841062;1842958;1975110;1975112;1975114;1975116;1975118;1975120;1975122;1975124;1975126;1975128;1975130;1975132;1975134;1975136;1975138;1975140;1975142;1975144;1975146;1975148;1975150;1975152;1975154;1975156;1975158;1975160;1975162;1975164;1975166;1975168;1975170;2215490;2215492;2215494;2215496 ECD08443;ECD08685;ECD09178;ECD09260;ECD11125;ECD20457;ECD21724;ECD22687;REN58441;REN58442;REN58443;REN58444;REN58445;REN58446;REN58447;REN58448;REN58449;REN58450;REN58451;REN58452;REN58453;REN58454;REN58455;REN58456;REN58457;REN58458;REN58459;REN58460;REN58461;REN58462;REN58463;REN58464;REN58465;REN58466;REN58467;REN58468;REN58469;REN58470;REN58471;SHGC-111118;stSG636739;stSG636741;stSG636742;stSG636743 CT127;SUN4 OTTHUMP00000030768;OTTHUMP00000204168;SUN domain-containing protein 4;Sad1 and UNC84 domain containing 4;acrosomal protein ACR55;cancer/testis antigen 127;outer dense fiber-associated protein SPAG4;sperm antigen 4;sperm tail protein;sperm-associated antigen 4 protein APPROVED protein-coding ENSG00000061656 11214 04330 603038 REVIEWED 1601710 SPAG17 sperm associated antigen 17 1 1 1 p12 116723952 116955535 - 118297811 118529357 - 118496288 118727848 - 6480464 18559567;18391952;16344560;15827353;14702039;12477932;20546612;19266077;19893584;20846217;18029348;20881960;23251661 200162 Q5TDG6;Q6Q759 ABBA01068504;ABBA01068505;ABBA01068506;AK091816;AK126319;AK126327;AL121993;AL137581;AL139345;AL513191;AL833485;AMYH01000974;AY555274;BC043251;BX648110;DB060943;HM370394;NM_206996 AAI48428;AAS66753;ADM86747;BAC03753;BAG54308;CAB70823;NP_996879;Q6Q759 Hs.528821 1336043;1692244;2107769;2170215;2177954;2182142;2219492 AL009508;AL009658;AL033783;D1S2669;PF6__5669;UniSTS:64952;WDR3__5087 DKFZp434B0610;FLJ34497;FLJ44343;FLJ44353;PF6;RP4-776P7.2 OTTHUMP00000014052;projection protein PF6 homolog;sperm-associated antigen 17 protein-coding ENSG00000155761 26620 10146 VALIDATED 1321762 SPAG1 sperm associated antigen 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008] 8 8 8 q22.2 97355644 97439501 + 101239439 101323306 + 101170263 101254132 + 1580863;6480464 1299558;16983343;16368546;15489334;14702039;12846798;12509440;12477932;11517287;10527845;9138444;8889548;8849440;16344560;23314748;20849852;21139048 6674 B3KQ58;G3XAM3;Q07617 ABBA01037564;ABBA01037565;ABBA01037566;ABBA01037567;AC025647;AF311312;AI624411;AK057482;AMYH01018925;AMYH01018926;BC055091;BM557203;BM981630;BX480304;CH471060;DB028984;NM_003114;NM_172218 AAG23967;AAH55091;BAG51920;EAW91800;EAW91801;EAW91802;EAW91803;EAW91804;EAW91805;EAW91806;NP_003105;NP_757367;Q07617 Hs.591866 1765607;2108519;2153566;2181137 D8S1602;SHGC-149057;SHGC-31092;SPAG1_8638 FLJ32920;HSD-3.8;SP75;TPIS OTTHUMP00000227270;TPR-containing protein involved in spermatogenesis;infertility-related sperm protein Spag-1;sperm-associated antigen 1;tetratricopeptide repeat-containing protein APPROVED protein-coding ENSG00000104450 11212 04548 603395 REVIEWED 1352269 SPAG16 sperm associated antigen 16 Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008] 2 2 2 q34 207912975 209043467 + 213857361 214983470 + 214149103 215275225 + 1580863;6480464 17699735;15489334;14702039;12477932;12391165;11867345;15328412;20379614;20463177;8889548;23251661;22963137 79582 B4DYB5;E7EWV3;E9PE90;F8WB32;F8WBQ0;F8WBY1;H0Y811;Q4G1A2;Q8N0X2 ABBA01062771;ABBA01062772;ABBA01062773;ABBA01062774;ABBA01062775;ABBA01062776;ABBA01062777;ABBA01062778;ABBA01062779;ABBA01062780;ABBA01062781;AC008169;AC008279;AC009964;AC024246;AC064841;AC079610;AC092618;AC093042;AC096565;AC098486;AC107218;AC114499;AC125244;AC131096;AF310672;AF426740;AF490390;AK026377;AK095036;AK302351;AK310883;AL832962;AMYH01011477;AMYH01011478;AMYH01011479;AMYH01011480;AMYH01011481;AMYH01011482;AW207406;BC009614;BC025379;BC067756;BC100282;CA313710;CH471063;CR457359;CR749477;NM_001025436;NM_024532;NR_047659;NR_047660 AAH09614;AAH25379;AAH67756;AAI00283;AAM63956;AAM97147;AAN63530;AAX93063;AAX93092;AAX93125;AAX93264;AAY14888;AAY24171;AAY24242;BAB15466;BAC04481;BAG63677;CAG33640;CAH18307;CAH56274;EAW70515;NP_001020607;NP_078808;Q8N0X2 Hs.743365 1298289;1331574;1337195;1338825;1340770;1341635;1664069;1664817;1678117;1679720;1695204;1704474;1705540;1734888;1747807;1773711;1774748;1784034;1787520;2172379;2186377;7185487 A004I11;D14S1164;D1S1649;D2S128;D2S1327;D2S1345;D2S1656E;D2S2048;D2S2319;D2S334;EV98Mn;G16506;G66878;RH79632;SHGC-144363;SHGC-155580;SHGC-62913;SHGC-763;SHGC-82984;SHGC-83870;WI-18681 DKFZp666P1710;FLJ22724;FLJ37717;MGC87036;PF20;WDR29 OTTHUMP00000163972;OTTHUMP00000206695;OTTHUMP00000206700;WD repeat domain 29;pf20 protein homolog;sperm-associated WD repeat protein;sperm-associated antigen 16 protein APPROVED protein-coding ENSG00000144451 23225 18089 612173 VALIDATED 736242 SPAG5 sperm associated antigen 5 This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008] 17 17 q11.2 23928710 23950183 - 26904583 26926056 - 1580863;6480464 15504738;19197158;18055457;17383637;16565220;16546135;15489334;12477932;12356910;11724960;11549262;16169070;11468777;18361916;16343815;16713569;17664331;20508983;20852589;20805509;18029348;20360068;21139048;21890473;22190034 10615 F5GZT2;J3KSV2;J3QRV8;K7ELC8;Q96R06 ABBA01015052;AC005726;AF063308;AF345347;AF399910;AK025725;AK292398;AL122116;AL137585;AMYH01008279;BC000322;BC113055;BI459711;BQ773438;CH471159;NM_006461 AAD02813;AAH00322;AAI13056;AAK91712;AAL06396;BAF85087;CAB59275;CAB70827;EAW51106;NP_006452;Q96R06 Hs.514033 1663727;1684878;1698818;5024543 D1S3690;G21480;RH102973;RH79796 DEEPEST;MAP126;hMAP126 OTTHUMP00000233592;astrin;mitotic spindle associated protein p126;mitotic spindle coiled-coil related protein;mitotic spindle-associated protein p126;sperm-associated antigen 5 APPROVED protein-coding ENSG00000076382 13452 10246 REVIEWED 1313749 SPAG6 sperm associated antigen 6 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p12.2 22322124 22394264 + 22674405 22746545 + 22634374 22706539 + 1580863;6480464 10493827;16381901;15489336;15489334;15164054;12509440;12477932;12391165;12167721;11230166;11076863;10684790;9295136;9138444;11256614;16385451;20668334;21832049;16344560 9576 O75602 ABBA01034478;ABBA01034479;ABBA01034480;AF079363;AK289903;AK302194;AK310247;AL080136;AL158211;AL513128;AMYH01002182;BC030585;BI561430;CH471072;CR533552;DB025758;DB057157;HM370395;NM_001253854;NM_001253855;NM_012443;NM_172242 AAC32590;AAH30585;ABM81842;ABM84993;ADM86748;BAF82592;BAG63556;CAB45730;CAG38583;CAL37552;CAL37576;EAW86143;EAW86144;EAW86145;EAW86146;EAW86147;NP_001240783;NP_001240784;NP_036575;NP_758442;O75602 Hs.655170 1665688;2143708 D10S1599;SHGC-30672 DKFZp434I153;MGC26276;Repro-SA-1;pf16 OTTHUMP00000019296;OTTHUMP00000019297;axoneme central apparatus protein;protein PF16 homolog;sperm flagellar protein;sperm-associated antigen 6 APPROVED protein-coding ENSG00000077327 11215 09305 605730 REVIEWED 1313520 SPAG7 sperm associated antigen 7 17 17 17 p13.2 4877332 4885943 - 4803244 4811856 - 4862521 4871132 - 1298632;1580863;6480464 9653160 11042152;14667819;15489334;15342556;12477932;7624517;18029348;21139048;21890473 9552 I3L0Q5;I3L0X5;I3L4C3;O75391 ABBA01054784;ABBA01054785;AC004771;AC109333;AF047437;AK123065;AK312174;AMYH01008044;BC007819;BC011934;BP308951;NM_004890 AAC39888;AAH11934;NP_004881;O75391 Hs.90436 1698914;2218746;5022921;5491298 CAMTA2__4500;MARC4001-4002;RH103026;ksks155 ACRP;FSA-1;MGC20134 sperm-associated antigen 7 protein-coding ENSG00000091640 11216 10247 610056 VALIDATED 1316057 SPAG8 sperm associated antigen 8 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012] 9 9 p13.3 35797782 35802259 - 35807782 35812259 - 6480464 8788182;17187156;15489334;15164053;15014887;12477932;11111873;11111865;10500252;9138444;8889548;16713569;19548270;20488182;19953087 26206 C9JAA8;F2Z302;F8WBP3;H7C4J6;Q99932 ABBA01064984;AI028727;AK302313;AL133410;AMYH01019347;BC019247;BI757195;CA314354;CH471071;NM_001039592;NM_172312;S83157;U12978 AAA21129;AAB46833;AAH19247;ABM81724;ABW03304;BAG63651;EAW58335;EAW58336;NP_001034681;NP_758516;Q99932 Hs.256747 1850417;2107445;2143753;2181442 NPR2_7842;RH41893;SHGC-12605;STS-S83157 BS-84;HSD-1;MGC26201;SMP1;SPAG3;hSMP-1 OTTHUMP00000021352;OTTHUMP00000215542;OTTHUMP00000215543;OTTHUMP00000215544;OTTHUMP00000215545;sperm membrane protein 1;sperm membrane protein BS-84;sperm-associated antigen 8 APPROVED protein-coding ENSG00000137098 14105 12039 605731 REVIEWED 1605147 SPANXA2-OT1 SPANXA2 overlapping transcript 1 (non-protein coding) X X X q27.2 140901924 141023911 + 140418515 140565735 + 140590843 140738069 + 6480464 14702039;16344560 619455 Q8N9U9 ABBA01066189;ABBA01066190;ABBA01066191;AC234774;AC235097;AC240443;AK093505;AL050308;AL121881;AMYH01023097;AMYH01023098;AMYH01023099;AMYH01023100;AMYH01023101;AMYH01023102;AMYH01023103;AMYH01023104;AMYH01023105;AMYH01023106;AMYH01023107;AMYH01023108;AMYH01023109;AMYH01023110;AMYH01023111;AMYH01023112;AMYH01023113;AMYH01023114;AMYH01023115;AMYH01023116;DA220378;NR_037183 Q8N9U9 Hs.590784 1694392;1701972;1717159;1757517;1789711;5022578 D1S1423;DXS1341;G42891;RH121502;SHGC-144953;Xq4094 CXorf18;FLJ36186 APPROVED miscrna 31683 VALIDATED 1347791 SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 7 7 q31.3 123352565 123398700 + 123565286 123611464 + 1580863;6480464 8195297;15804358;12932297;12853948;12690205;12477932;11731269;11731267;11114590;10493834;8575780;8282124;8234258;2269661;20634891;16344560;23209833;23463525;23247813 6677 C9J2X5;P38567;Q5D1J4 AACC02000001;ABBA01057726;AC004690;AK292229;AMYH01017905;AY920278;AY920279;AY920280;AY920281;BC026163;BI831525;CH236947;CH471070;DB023094;HC007296;HC470627;HC679018;JA209070;JA420763;JA721131;L13779;L13781;NM_001174044;NM_001174045;NM_001174046;NM_003117;NM_153189;S67798;X84347 AAC60607;AAH26163;AAQ96882;AAX13985;AAX13986;AAX13987;AAX13988;ABM82583;ABM85770;BAF84918;CAA59086;CBH19453;CBL54474;CBL86562;CCA64576;CCD32726;CCF70987;EAL24329;EAL24330;EAW83604;EAW83605;EAW83606;NP_001167515;NP_001167516;NP_001167517;NP_003108;NP_694859;P38567 Hs.121494 1664291;1667614;1858540;2129121;2139038 D7S1432;D7S2893;RH66806;SPAM1;STS-S67798 HYA1;HYAL1;HYAL3;HYAL5;MGC26532;PH-20;PH20;SPAG15 OTTHUMP00000211901;OTTHUMP00000211902;OTTHUMP00000211952;hyal-PH20;hyaluronidase PH-20;hyaluronoglucosaminidase PH-20;sperm surface protein PH-20 APPROVED protein-coding ENSG00000106304 11217 02958 600930 REVIEWED 1342995 SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X X X q27.1 141072907 141073938 - 140499472 140500502 - 140671806 140672836 - 1580863;6480464 10906052;16390498;16251457;15772651;15489334;14734458;12758128;12477932;11133693;20073942 30014 Q4KRP5;Q9NS26 AC235097;AF098306;AL121881;AMYH01023116;AY787120;AY787123;AY920732;AY920733;AY920735;AY920736;AY920737;AY920738;AY920739;AY920741;AY920742;AY920743;AY920744;AY920745;AY920746;BC069393;BC069816;CH471170;DQ994201;DQ994202;DQ994203;DQ994204;DQ994205;DQ994206;DQ994207;DQ994208;DQ994209;DQ994210;NM_013453 AAF28420;AAH69393;AAH69816;AAI41463;AAI48760;AAW47342;AAW47345;AAY16548;AAY16549;AAY16551;AAY16552;AAY16553;AAY16554;AAY16555;AAY16557;AAY16558;AAY16559;AAY16560;AAY16561;AAY16562;ABN68940;ABN68941;ABN68942;ABN68943;ABN68944;ABN68945;ABN68946;ABN68947;ABN68948;ABN68949;CAI42369;EAW78007;NP_038481;Q9NS26 Hs.334464;Hs.711784 CT11.1;NAP-X;SPAN-Xa;SPAN-Xb;SPANX;SPANX-A2;SPANX-C;SPANX-D;SPANXA2;SPANXC;SPANXD OTTHUMP00000024179;SPAN-X;SPANX family member A;SPANX family, member A1;SPANX-A;cancer/testis antigen 11.1;cancer/testis antigen family 11, member 1;nuclear-associated protein SPAN-Xa;sperm protein associated with the nucleus on the X chromosome A;sperm protein associated with the nucleus, X chromosome, family member A1 APPROVED protein-coding 11218 02252 300305 REVIEWED 1351593 SPANXA2 SPANX family, member A2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X X q27.1 140505498 140506567 + 140677835 140678899 + 12477932;11133693;10906052;20073942;16712791 728712 Q9NS26 AC235097;AF098306;AI808260;AJ457794;AL121881;AMYH01023115;AY920732;AY920733;AY920735;AY920736;AY920737;AY920738;AY920739;AY920741;AY920742;AY920743;AY920744;AY920745;AY920746;BC069393;BC069816;CB113891;DQ994201;DQ994202;DQ994203;DQ994204;DQ994205;DQ994206;DQ994207;DQ994208;DQ994209;DQ994210;NM_145662 AAF28420;AAH69393;AAH69816;AAY16548;AAY16549;AAY16551;AAY16552;AAY16553;AAY16554;AAY16555;AAY16557;AAY16558;AAY16559;AAY16560;AAY16561;AAY16562;ABN68940;ABN68941;ABN68942;ABN68943;ABN68944;ABN68945;ABN68946;ABN68947;ABN68948;ABN68949;ABZ92539;CAD19068;CAD29843;NP_663695;Q9NS26 Hs.375036;Hs.711784 CT11.1;SPAN-X;SPANX;SPANX-A;SPANXA;SPANXA1 OTTHUMP00000024180;SPANX family member A;cancer/testis antigen 11.1;nuclear-associated protein SPAN-Xa;sperm protein associated with the nucleus on the X chromosome A;sperm protein associated with the nucleus, X chromosome, family member A2 APPROVED protein-coding 14328 06720 300493 REVIEWED 1601817 SPANXF1 SPANX family, member F1 q27.1 171490 Q9NS25 AJ457793;AJ457796;NM_139019 CAD29842;CAD29845;NP_620588;Q9NS25 Hs.434105 SPANXB1;SPANXB2 CT11.2;SPAN-Xf;SPANX family member B/F;SPANX family member B1;SPANX-B;SPANX-F;cancer/testis antigen 11.2;nuclear-associated protein SPAN-Xb;nuclear-associated protein SPAN-Xf;sperm protein associated with the nucleus on the X chromosome B/F protein-coding 18409 VALIDATED 1349351 SPANXF2 SPANX family, member F2 171491 AL451048 18447 1606621 SPANXN1 SPANX family, member N1 This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010] X X X q27 144641519 144650139 + 144136799 144145420 + 144329107 144337728 + 17012309;14973187 494118 Q5VSR9 ABBA01054422;AL356499;AL713923;AMYH01023155;AY825029;DQ336118;DQ336119;DQ336120;DQ336121;NG_021225;NM_001009614 AAV97585;ABC61869;ABC61870;ABC61871;ABC61872;NP_001009614;Q5VSR9 Hs.551270 CT11.6;SPANX-N1 OTTHUMP00000043784;cancer/testis antigen family 11, member 6;nuclear-associated protein SPAN-Xn1;sperm protein associated with the nucleus on the X chromosome N1 APPROVED protein-coding 33174 18090 300664 REVIEWED 1606620 SPANXN2 SPANX family, member N2 X X X q27.3 143082347 143091809 - 142622721 142632182 - 142795055 142804516 - 17012309;14973187 494119 Q5MJ10 ABBA01066417;AC239921;AL080239;AL500522;AMYH01023125;AY825030;DQ336111;DQ336112;DQ336113;DQ336114;DQ336115;NM_001009615 AAI46379;AAI46547;AAV97586;ABC61862;ABC61863;ABC61864;ABC61865;ABC61866;CAI41652;NP_001009615;Q5MJ10 Hs.535083 CT11.7;SPANX-N2 OTTHUMP00000043765;cancer/testis antigen family 11, member 7;nuclear-associated protein SPAN-Xn2;sperm protein associated with the nucleus on the X chromosome N2 protein-coding ENSG00000203924 33175 18091 300665 PROVISIONAL 1347946 SPANXD SPANX family, member D Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. [provided by RefSeq, Jul 2008] X X q27.1 140613234 140614264 - 140785568 140786598 - 1580863;6480464 16251457;12758128;12477932;11133693;20073942 64648 Q4KRP8;Q9BXN6 AC240443;AF312765;AJ457791;AL121881;AY920734;AY920931;AY920932;AY920933;AY920934;AY920935;AY920936;AY920937;AY920938;AY920939;AY920940;AY920941;AY920942;AY920943;AY920944;AY920945;AY920946;AY920947;AY920948;AY920949;AY920950;AY920951;AY920952;AY920953;AY920954;AY920955;AY920956;AY920957;AY920958;AY920959;AY920960;AY920961;AY920962;AY920963;AY920964;AY920965;AY920966;AY920967;AY920968;AY920969;AY920970;AY920971;AY920972;AY920973;AY920974;AY920975;AY920976;AY920977;AY920978;AY920979;AY920980;AY920981;AY920982;AY920983;AY920984;AY920985;AY920986;AY920987;BC103961;BC121070;BC134418;EF101637;NM_032417 AAI03962;AAI21071;AAI34419;AAK28485;AAY16550;AAY18634;AAY18635;AAY18636;AAY18637;AAY18638;AAY18639;AAY18640;AAY18641;AAY18642;AAY18643;AAY18644;AAY18645;AAY18646;AAY18647;AAY18648;AAY18649;AAY18650;AAY18651;AAY18652;AAY18653;AAY18654;AAY18655;AAY18656;AAY18657;AAY18658;AAY18659;AAY18660;AAY18661;AAY18662;AAY18663;AAY18664;AAY18665;AAY18666;AAY18667;AAY18668;AAY18669;AAY18670;AAY18671;AAY18672;AAY18673;AAY18674;AAY18675;AAY18676;AAY18677;AAY18678;AAY18679;AAY18680;AAY18681;AAY18682;AAY18683;AAY18684;AAY18685;AAY18686;AAY18687;AAY18688;AAY18689;AAY18690;ABK96944;CAD29840;CAI42368;NP_115793;Q9BXN6 Hs.375036 CT11.4;MGC119769;SPANX-C;SPANX-D;dJ171K16.1 OTTHUMP00000024178;SPAN-Xd protein;cancer/testis antigen 11.4;cancer/testis antigen family 11, member 4;nuclear-associated protein SPAN-Xd;sperm protein associated with the nucleus on the X chromosome D;sperm protein associated with the nucleus, X chromosome, family member D APPROVED protein-coding 14332 06722 300670 REVIEWED 1353572 SPANXB1 SPANX family, member B1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B2, which appears to be a duplication of the B1 locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X X X q27.1 140458407 140458599 + 139924427 139925545 + 140096761 140097876 + 1580863 18626316;16251457;15489334;12393489;11133693;10906052;12758128;12477932;19417550;20073942 728695 Q32WN1;Q9NS25 AF098307;AL031078;AMYH01023071;AY787057;AY787058;AY787059;AY787060;AY787061;AY787062;AY787063;AY787064;AY787065;AY787066;AY787067;AY787068;AY787069;AY787070;AY787071;AY787072;AY787073;AY787074;AY787075;AY787076;AY787077;AY787078;AY787079;AY787080;AY787081;AY787082;AY787083;AY787085;AY787090;AY787092;AY787127;AY787130;AY787632;BC034472;BC137533;BC137536;NM_032461 AAF28421;AAH34472;AAI37534;AAI37537;AAW47348;AAW47349;AAW47350;AAW47351;AAW47352;AAW47353;AAW47354;AAW47355;AAW47356;AAW47357;AAW47358;AAW47359;AAW47360;AAW47361;AAW47362;AAW47363;AAW47364;AAW47365;AAW47366;AAW47367;AAW47368;AAW47369;AAW47370;AAW47371;AAW47372;AAW47373;AAW47374;AAW47375;AAW47376;AAW47377;AAW47380;AAW47382;AAW47383;ABM83256;ABM86460;CAI42717;NP_115850;Q9NS25 Hs.434105;Hs.711489 B1;CT11.2;SPANX-B;SPANXB;SPANXB2;SPANXF1 OTTHUMP00000024171;SPAN-Xf;SPANX family member B/F;SPANX-F;cancer/testis antigen 11.2;cancer/testis antigen family 11, member 2;nuclear-associated protein SPAN-Xb;nuclear-associated protein SPAN-Xf;sperm protein associated with the nucleus on the X chromosome B/F;sperm protein associated with the nucleus, X chromosome, family member B1 APPROVED protein-coding ENSG00000235604 14329 15423 300669 REVIEWED 1606617 SPANXN5 SPANX family, member N5 X X X p11.22 56647753 56648955 - 52841911 52843113 - 52825186 52826388 - 17012309;14973187 494197 Q5MJ07 ABBA01056331;AC244505;AL039107;AL445236;AMYH01022400;AY825033;NM_001009616 AAI46365;AAI56578;AAV97589;CAI41620;NP_001009616;Q5MJ07 Hs.535218 1702564 UniSTS:99422 CT11.10;SPANX-N5 OTTHUMP00000043785;cancer/testis antigen family 11, member 10;nuclear-associated protein SPAN-Xn5;sperm protein associated with the nucleus on the X chromosome N5 protein-coding 33178 18094 300668 VALIDATED 1322667 SPAG9 sperm associated antigen 9 This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 17 17 q21.33 46397987 46553094 - 49039535 49198226 - 6480464;7240533 20626350 14743216;17353931;9480848;19056739;18922895;17081983;16959808;16356479;16112646;16077255;15693750;15489334;15302935;15144186;14702039;14662895;12477932;12391307;12168954;10557099;9628581;22146769;21356354;21177868;15923648;15987681;18826971;19596235;19644450;19820019;19947555;20138665;22939629;22863883;22990118;18029348;16344560;22586326;20360068;21900206;21139048;21890473;21906983;20173330;22053931;22505724 9043 D6RHI8;H0Y981;H0YBE9;H0YBS5;Q5JB53;Q86WC8 AB011088;ABBA01041252;ABBA01041253;ABBA01041254;ABBA01041255;ABBA01041256;ABBA01041257;ABBA01041258;AC005839;AC005920;AF327452;AF542172;AK023512;AK024068;AK091921;AK129652;AK295098;AK299553;AK302789;AK307793;AK309214;AMYH01008481;AY219897;AY219898;AY236487;AY850123;BC007524;BC059946;BC146755;BC153878;CH471109;DA631864;DC332810;NG_029710;NM_001130527;NM_001130528;NM_001251971;NM_003971;X91879 AAH07524;AAH59946;AAI46756;AAI53879;AAN61565;AAO66462;AAO66463;AAP74807;AAQ11383;AAX47276;ADZ15793;BAA25442;BAB14812;BAG51202;BAG58134;BAG61498;BAG63993;CAA62987;EAW94569;EAW94570;EAW94571;EAW94572;EAW94573;EAW94574;NP_001123999;NP_001124000;NP_001238900;NP_003962;O60271 Hs.463439 1664451;1666396;1681522;1686818;1700534;1703680;1730283;1734418;1738221;1848724;2118567;2139368;2172440;2185301;5014023;5014063;5037552;7184703 D11S3862;D13S1553;D15S1390;D17S1393E;D17S2022;D17S819E;D8S2279;RH103888;RH12095;RH44968;RH76125;RH78073;RH91778;SHGC-30378;SHGC-78834;STS-Z41139;WI-20746 CT89;FLJ13450;FLJ14006;FLJ26141;FLJ34602;HLC-6;HLC4;HLC6;JIP-4;JIP4;JLP;KIAA0516;MGC117291;MGC14967;MGC74461;PHET;PIG6 C-Jun-amino-terminal kinase-interacting protein 4;JNK interacting protein;JNK/SAPK-associated protein;Max-binding protein;OTTHUMP00000221890;OTTHUMP00000221891;OTTHUMP00000221892;OTTHUMP00000221893;OTTHUMP00000221894;OTTHUMP00000221896;OTTHUMP00000221898;c-Jun NH2-terminal kinase-associated leucine zipper protein;cancer/testis antigen 89;human lung cancer oncogene 6 protein;lung cancer oncogene 4;mitogen-activated protein kinase 8-interacting protein 4;proliferation-inducing gene 6;protein highly expressed in testis;sperm surface protein;sunday driver 1 APPROVED protein-coding ENSG00000008294 14524 10398 605430 REVIEWED 1350741 SPAR surfactant protein A binding protein q31.21 1580863 8360162 9981 L10123 AAA36632;Q15509 SFTPABP protein-coding 16351 1343530 SPANXB2 SPANX family, member B2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B1 and appears to be a duplication of that locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008] X X q27.1 139912422 139913537 + 140084756 140085871 + 6480464 10906052;17342728;16251457;15772651;15489334;12758128;12477932;11133693;20073942 100133171 Q9NS25 ABBA01023089;ABBA01023090;ABBA01023091;ABBA01023092;AF098307;AJ457789;AL031078;AL451048;AX972163;BC034472;BC137533;BC137536;CH881887;NM_145664 AAF28421;AAH34472;AAI37534;AAI37537;CAD29838;CAF17271;CAI42718;EAW50544;NP_663697;Q9NS25 Hs.434105;Hs.711489 SPANX;SPANXB;SPANXB1;SPANXF1 CT11.2;OTTHUMP00000024172;SPAN-Xb protein;SPAN-Xf;SPANX family member B/F;SPANX family member B1;SPANX-B;SPANX-C;SPANX-F;cancer/testis antigen 11.2;hCG2036708;nuclear-associated protein SPAN-Xb;nuclear-associated protein SPAN-Xf;sperm protein associated with the nucleus on the X chromosome B/F;sperm protein associated with the nucleus, X chromosome, family member B2 APPROVED protein-coding ENSG00000227234 14330 REVIEWED 1350633 SPANXC SPANX family, member C Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008] X X q27.1 140163262 140164312 - 140335596 140336646 - 1580863;6480464 10626816;18626316;16251457;15489334;15139967;12758128;12477932;11133693;8125298;19417550;20073942;17207965;22941507 64663 A0FGX0;Q9NY87 AA412605;AJ238277;AJ457790;AK225988;AL109799;AMYH01023084;AY787084;AY787087;AY787088;AY787089;AY787091;AY787093;AY787094;AY787095;AY787097;AY787098;AY787099;AY787100;AY787101;AY787103;AY787105;AY787106;AY787107;AY787108;AY787109;AY787111;AY787112;AY787113;AY787114;AY787115;AY787116;AY787117;AY787118;AY787121;AY787122;AY787124;AY787129;BC054023;DQ994212;DQ994213;DQ994215;DQ994216;DQ994221;DQ994223;DQ994224;DQ994225;DQ994226;DQ994227;DQ994228;DQ994229;DQ994230;DQ994231;DQ994232;DQ994236;DQ994237;DQ994238;DQ994239;EF101641;EF101643;EF101644;EF101645;EF101646;EF101650;EF101651;EF101654;EF101656;EF101659;NM_022661 AAH54023;AAW47309;AAW47311;AAW47312;AAW47313;AAW47314;AAW47315;AAW47316;AAW47317;AAW47319;AAW47320;AAW47321;AAW47322;AAW47323;AAW47325;AAW47327;AAW47328;AAW47329;AAW47330;AAW47331;AAW47333;AAW47334;AAW47335;AAW47336;AAW47337;AAW47338;AAW47339;AAW47340;AAW47343;AAW47344;AAW47346;AAW47347;ABK19853;ABK19854;ABK19856;ABK19857;ABK19862;ABK19864;ABK19865;ABK19866;ABK19867;ABK19868;ABK19869;ABK19870;ABK19871;ABK19872;ABK19873;ABK19877;ABK19878;ABK19879;ABK19880;ABK96948;ABK96950;ABK96951;ABK96952;ABK96953;ABK96957;ABK96958;ABK96961;ABK96963;ABK96966;ADQ32125;CAB75344;CAD29839;CAI41662;NP_073152;Q9NY87 Hs.558533 C;CT11.3;CTp11;SPANX-C OTTHUMP00000024173;SPAN-Xc protein;cancer-testis-associated protein CTp11;cancer/testis antigen 11.3;cancer/testis antigen family 11, member 3;cancer/testis-associated protein CTp11;cancer/testis-associated protein of 11 kD;nuclear-associated protein SPAN-Xc;sperm protein associated with the nucleus on the X chromosome C;sperm protein associated with the nucleus, X chromosome, family member C APPROVED protein-coding ENSG00000198573 14331 02270 300330 REVIEWED 1603581 SPANXN3 SPANX family, member N3 X X X q27.3 142883872 142892615 - 142424230 142432973 - 142596564 142605307 - 6480464 17012309;14973187;12477932;21832049;19953087 139067 Q5MJ09 ABBA01066394;ABBA01066395;ABBA01066396;AC239395;AL030997;AL080239;AMYH01023125;AY825031;BC062750;CH471170;DQ336128;DQ336129;NM_001009609 AAH62750;AAV97587;ABC61879;ABC61880;CAI41648;CAI42274;EAW78017;NP_001009609;Q5MJ09 Hs.447320 2155993;2176549 DXS8316;WI-4468 CT11.8;SPANX-N3 OTTHUMP00000043763;cancer/testis antigen family 11, member 8;nuclear-associated protein SPAN-Xn3;sperm protein associated with the nucleus on the X chromosome N3 protein-coding ENSG00000189252 33176 18092 300666 VALIDATED 1345465 SPANXE SPANX family, member E Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that contains a consensus nuclear localization signal but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. [provided by RefSeq, Jul 2008] X X q27.2 141072907 141073995 - 140613234 140614321 - 1580863 16251457;15489334;12758128;12477932;11133693;20073942 171489 Q4KRP2;Q8TAD1 AC234777;AJ457792;AJ457795;AL121881;AY787086;AY787096;AY787102;AY787104;AY787110;AY787119;AY920740;BC005382;BC062672;DQ994211;DQ994214;DQ994217;DQ994218;DQ994219;DQ994220;DQ994233;DQ994234;DQ994235;EF101635;EF101636;EF101639;EF101642;EF101647;EF101648;EF101649;EF101652;EF101653;EF101657;EF101658;NM_145665 AAH05382;AAH62672;AAW47310;AAW47318;AAW47324;AAW47326;AAW47332;AAW47341;AAY16556;ABK19852;ABK19855;ABK19858;ABK19859;ABK19860;ABK19861;ABK19874;ABK19875;ABK19876;ABK96942;ABK96943;ABK96946;ABK96949;ABK96954;ABK96955;ABK96956;ABK96959;ABK96960;ABK96964;ABK96965;CAD29841;CAD29844;NP_663698;Q8TAD1 Hs.375036 MGC71908;SPANX-A2;SPANX-C;SPANX-D;SPANX-E;SPANXA2;SPANXD SPAN-Xe protein;SPANX-E;nuclear-associated protein SPAN-Xe;sperm protein associated with the nucleus on the X chromosome E;sperm protein associated with the nucleus, X chromosome, family member E APPROVED protein-coding 18408 06723 300671 REVIEWED 1604672 SPANXN4 SPANX family, member N4 This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, Sep 2009] X X X q27.3 142401127 142409489 + 141941370 141949732 + 142113704 142122066 + 17012309;14973187;12477932 441525 Q5MJ08 ABBA01066349;ABBA01066350;ABBA01066351;AL137840;AMYH01023125;AY825032;BC130503;BC130505;DQ336126;DQ336127;NG_013264;NM_001009613 AAI30504;AAI30506;AAV97588;ABC61877;ABC61878;ADR83315;NP_001009613;Q5MJ08 Hs.535082 CT11.9;SPANX-N4 OTTHUMP00000226037;cancer/testis antigen family 11, member 9;nuclear-associated protein SPAN-Xn4;sperm protein associated with the nucleus on the X chromosome N4 APPROVED protein-coding ENSG00000189326 33177 18093 300667 REVIEWED 6481183 SPATA13-AS1 SPATA13 antisense RNA 1 13 24826887 24828577 - 100874231 ABBA01007887;AL359736;AMYH01004973;AV761850;NR_046531 Hs.577998 APPROVED miscrna ENSG00000227213 39905 PREDICTED 736595 SPARCL1 SPARC-like 1 (hevin) 4 4 q22.1 88613511 88669530 - 88394487 88450655 - 1580863;6480464 18384059;18381651;17825989;16844696;16335952;16316624;15231748;15146195;12538579;12477932;10735494;8626806;8488563;7600298;19834535;20237496;20029029;21528083;22927397;22909274;17043677;19850743;21887554;22161898 8404 B4E2Z0;C9JJR8;D6RA29;E7EU82;E9PC64;F5H1Y9;F5H331;F5H4Y3;Q14515 ABBA01063536;AC093906;AC112250;AK294335;AK298039;AK300956;AK304494;AK304628;AK316533;AL833430;AMYH01014379;AY513278;BC010383;BC022484;BC033721;BX647713;CH471057;DC403565;DC421365;NM_001128310;NM_004684;X82157;X86693 AAH33721;AAT08031;ACE87844;ACT64358;BAG57605;BAG60338;BAG62584;BAG65302;BAG65409;BAH14904;CAA57650;CAA60386;EAX05991;EAX05992;NP_001121782;NP_004675;Q14515 Hs.62886 1658680;1797182;2184908 SHGC-59409;SPARCL1;WI-21135 PIG33;SC1 MAST 9;OTTHUMP00000161184;OTTHUMP00000219654;SPARC-like 1 (mast9, hevin);SPARC-like protein 1;hevin;high endothelial venule protein;mast9;proliferation-inducing protein 33;sparc-like 1 protein-coding ENSG00000152583 11220 06919 606041 VALIDATED 1318293 SPAST spastin This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008] 2 2 p24-p21 32142184 32236210 + 32288680 32382706 + 1580863;1358585;6480464;7240710 11723204 15716377;16219033;17389232;10610178;19289482;19141076;19084842;19000169;18997780;18701882;18664244;18613979;18401025;18337300;18202664;18190593;17971434;17957230;17916079;17895902;17720546;17690846;17598600;17597328;17594340;17560499;17420921;17407089;17345589;17100993;17098887;17035675;16828199;16826525;16815977;16788734;16684598;16682546;16602018;16339213;16240363;16055926;16026783;16009903;15939438;15891913;15858810;15841487;15739043;15537668;15482961;15345747;15326248;15269182;15248095;15210521;15159500;15147984;14732620;14681884;14656074;14506940;12939659;12925368;12876245;12778437;12743246;12736085;12676568;12552568;12490534;12471215;12460147;12202986;12163196;12161613;12124993;12023066;11985387;11843700;11809724;11704932;11309678;11087788;11039577;11015453;10980739;10699187;10493830;10470851;22573551;20154342;20562464;19039240;19423133;19620182;19652142;19730024;19875132;19939411;20200447;20214791;20857310;20559269;22446388;20430936;20718791;20734064;20843780;20301339;20665701;20932283;20491894;21546041;21834905;21757506;12477932;15174051;23383273;22203332;23252998;19322201;20719964;22192498;22574173;22637577;23272056;23400676 6683 E5KRP5;E5KRP6;Q9UBP0 AA830062;AB029006;ABBA01074868;ABBA01074869;ABBA01074870;ABBA01074871;ABBA01074872;ABBA01074873;ABBA01074874;ABBA01074875;ABBA01074876;AJ246001;AJ246003;AK304135;AL121655;AL121658;AMYH01010228;AMYH01010229;BC150260;BG532310;CH471053;HQ205746;HQ205747;HQ205748;HQ205749;HQ205750;HQ205751;HQ205752;HQ205753;HQ205754;HQ205755;HQ205756;HQ205757;HQ205758;HQ205759;HQ205760;HQ205761;HQ205762;HQ205763;HQ205764;HQ205765;HQ205766;HQ205767;HQ205768;HQ205769;HQ205770;HQ205771;HQ205772;HQ205773;HQ205774;HQ205775;HQ205776;HQ205777;HQ205778;HQ205779;HQ205780;HQ205781;HQ205782;HQ205783;HQ205784;HQ205785;NG_008730;NM_014946;NM_199436 AAI50261;ADP91574;ADP91575;ADP91576;ADP91577;ADP91578;ADP91579;ADP91580;ADP91581;ADP91582;ADP91583;ADP91584;ADP91585;ADP91586;ADP91587;ADP91588;ADP91589;ADP91590;ADP91591;ADP91592;ADP91593;ADP91594;ADP91595;ADP91596;ADP91597;ADP91598;ADP91599;ADP91600;ADP91601;ADP91602;ADP91603;ADP91604;ADP91605;ADP91606;ADP91607;ADP91608;ADP91609;ADP91610;ADP91611;ADP91612;ADP91613;ADP91614;ADP91615;ADP91616;ADP91617;ADP91618;ADP91619;ADP91620;ADP91621;ADP91622;ADP91623;ADP91624;ADP91625;ADP91626;ADP91627;ADP91628;ADP91629;ADP91630;ADP91631;ADP91632;ADP91633;ADP91634;ADP91635;ADP91636;ADP91637;ADP91638;ADP91639;ADP91640;ADP91641;ADP91642;ADP91643;ADP91644;ADP91645;ADP91646;ADP91647;ADP91648;ADP91649;ADP91650;ADP91651;ADP91652;ADP91653;BAA83035;BAG65029;CAB60141;CAB60208;EAX00461;EAX00462;NP_055761;NP_955468;Q9UBP0 Hs.468091 1647132;1675333;1700338;1768876;5037552 D8S2279;G31531;RH103789;RH94043;SHGC-32499 ADPSP;FSP2;KIAA1083;SPG4 OTTHUMP00000158570;OTTHUMP00000158571;spastic paraplegia 4 (autosomal dominant; spastin);spastic paraplegia 4 protein;spastin APPROVED protein-coding ENSG00000021574 11233 05044 182601;604277 REVIEWED 1351808 SPATA16 spermatogenesis associated 16 This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010] 3 3 3 q26.31 171006118 171258045 - 174089841 174341695 - 172607147 172859058 - 737633;1580863;7240710 12477932 17847006;17665087;16372119;16344560;14702039;12529416;20379614;20467438;22219177 83893 Q0R2U2 ABBA01058641;ABBA01058642;ABBA01058643;ABBA01058644;AC063933;AC092948;AF345909;AF404758;AK093041;AMYH01013654;AMYH01013655;BC034496;BI829426;CH471052;DB040560;DQ141866;DQ141867;DQ141868;DQ141869;DQ141870;DQ141871;DQ141872;DQ141873;DQ141874;DQ141875;DQ141876;DQ141877;DQ141878;DQ141879;DQ141880;DQ141881;DQ141882;DQ141883;DQ141884;DQ141885;DQ141886;DQ141887;DQ141888;DQ141889;DQ141890;DQ141891;DQ141892;DQ141893;DQ141894;DQ141895;DQ141896;DQ141897;DQ141898;DQ141899;DQ141900;DQ141901;DQ141902;DQ141903;DQ141904;DQ141905;DQ141906;DQ141907;DQ141908;DQ141909;DQ141910;DQ141911;DQ141912;DQ141913;DQ141914;DQ141915;DQ141916;DQ141917;DQ141918;DQ141919;DQ141920;DQ141921;DQ141922;DQ141923;DQ141924;DQ141925;DQ141926;DQ141927;DQ141928;DQ141929;DQ141930;DQ141931;DQ141932;DQ141933;DQ141934;DQ141935;DQ141936;DQ141937;DQ141944;DQ141945;DQ141946;DQ141947;DQ141948;DQ141949;DQ141950;DQ141951;DQ141952;DQ141953;DQ141954;DQ141955;DQ141956;DQ141957;DQ141958;DQ141959;DQ141960;DQ141961;DQ141962;DQ141963;DQ141964;DQ141965;DQ141966;DQ141967;DQ141968;DQ141969;DQ141970;DQ141971;DQ141972;DQ141973;DQ141974;DQ141975;DQ141976;DQ141977;DQ141978;DQ141979;DQ141980;DQ141981;DQ141982;DQ141983;DQ141984;DQ141985;DQ141986;DQ141987;DQ141988;DQ141989;DQ141990;DQ141991;DQ141992;DQ141993;DQ141994;DQ141995;DQ141996;DQ141997;DQ141998;DQ141999;DQ142000;DQ142001;DQ142002;DQ142003;DQ142004;DQ142005;DQ142006;DQ142007;DQ142008;DQ142009;DQ142010;DQ142011;DQ142012;DQ142013;DQ142014;DQ142015;DQ142022;DQ142023;DQ142024;DQ142025;DQ142026;DQ142027;DQ142028;DQ142029;DQ142030;DQ142031;DQ142032;DQ142033;DQ142034;DQ142035;DQ142036;DQ142037;DQ142038;DQ142039;DQ142040;DQ142041;DQ142042;DQ142043;DQ142044;DQ142045;DQ142046;DQ142047;DQ142048;DQ142049;DQ142050;DQ142051;DQ142052;DQ142053;DQ142054;DQ142055;DQ142056;DQ142057;DQ142058;DQ142059;DQ142060;DQ142061;DQ142062;DQ142063;DQ142064;DQ142065;DQ142066;DQ142067;DQ142068;DQ142069;DQ142070;DQ142071;DQ142072;DQ142073;DQ142074;DQ142075;DQ142076;DQ142077;DQ142078;DQ142079;DQ142080;DQ142081;DQ142082;DQ142083;DQ142084;DQ142085;DQ142086;DQ142087;DQ142088;DQ142089;DQ142090;DQ142091;DQ142092;DQ142093;DQ142100;DQ142101;DQ142102;DQ142103;DQ142104;DQ142105;DQ142106;DQ142107;DQ142108;DQ142109;DQ142110;DQ142111;DQ142112;DQ142113;DQ142114;DQ142115;DQ142116;DQ142117;DQ142118;DQ142119;DQ142120;DQ142121;DQ142122;DQ142123;DQ142124;DQ142125;DQ142126;DQ142127;DQ142128;DQ142129;DQ142130;DQ142131;DQ142132;DQ142133;DQ142134;DQ142135;DQ142136;DQ142137;DQ142138;DQ142139;DQ142140;DQ142141;DQ142142;DQ142143;DQ142144;DQ142145;DQ142146;DQ142147;DQ142148;DQ142149;DQ142150;DQ142151;DQ142152;DQ142153;DQ142154;DQ142155;DQ142156;DQ142157;DQ142158;DQ142159;DQ142160;DQ142161;DQ142162;DQ142163;DQ142164;DQ142165;DQ142166;DQ142167;DQ142168;DQ142169;DQ142170;DQ142171;DQ142178;DQ142179;DQ142180;DQ142181;DQ142182;DQ142183;DQ142184;DQ142185;DQ142186;DQ142187;DQ142188;DQ142189;DQ142190;DQ142191;DQ142192;DQ142193;DQ142194;DQ142195;DQ142196;DQ142197;DQ142198;DQ142199;DQ142200;DQ142201;DQ142202;DQ142203;DQ142204;DQ142205;DQ142206;DQ142207;DQ142208;DQ142209;DQ142210;DQ142211;DQ142212;DQ142213;DQ142214;DQ142215;DQ142216;DQ142217;DQ142218;DQ142219;DQ142220;DQ142221;DQ142222;DQ142223;DQ142224;DQ142225;DQ142226;DQ142227;DQ142228;DQ142229;DQ142230;DQ142231;DQ142232;DQ142233;DQ142234;DQ142235;DQ142236;DQ142237;DQ142238;DQ142239;DQ142240;DQ142241;DQ142242;DQ142243;DQ142244;DQ142245;DQ142246;DQ142247;DQ142248;DQ142249;DQ142256;DQ142257;DQ142258;DQ142259;DQ142260;DQ142261;DQ142262;DQ142263;DQ142264;DQ142265;DQ142266;DQ142267;DQ142268;DQ142269;DQ142270;DQ142271;DQ142272;DQ142273;DQ142274;DQ142275;DQ142276;DQ142277;DQ142278;DQ142279;DQ142280;DQ142281;DQ142282;DQ142283;DQ142284;DQ142285;DQ142286;DQ142287;DQ142288;DQ142289;DQ142290;DQ142291;DQ142292;DQ142293;DQ142294;DQ142295;DQ142296;DQ142297;DQ142298;DQ142299;DQ142300;DQ142301;DQ142302;DQ142303;DQ142304;DQ142305;DQ142306;DQ142307;DQ142308;DQ142309;DQ142310;DQ142311;DQ142312;DQ142313;DQ142314;DQ142315;DQ142316;DQ142317;DQ142318;DQ142319;DQ142320;DQ142321;DQ142322;DQ142323;DQ142324;DQ142325;DQ142326;DQ142327;DQ142334;DQ142335;DQ142336;DQ142337;DQ142338;DQ142339;DQ142340;DQ142341;DQ142342;DQ142343;DQ142344;DQ142345;DQ142346;DQ142347;DQ142348;DQ142349;DQ142350;DQ142351;DQ142352;DQ142353;DQ142354;DQ142355;DQ142356;DQ142357;DQ142358;DQ142359;DQ142360;DQ142361;DQ142362;DQ142363;DQ142364;DQ142365;DQ142366;DQ142367;DQ142368;DQ142369;DQ142370;DQ142371;DQ142372;DQ142373;DQ142374;DQ142375;DQ142376;DQ142377;DQ142378;DQ142379;DQ142380;DQ142381;DQ142382;DQ142383;DQ142384;DQ142385;DQ142386;DQ142387;DQ142388;DQ142389;DQ142390;DQ142391;DQ142392;DQ142393;DQ142394;DQ142395;DQ142396;DQ142397;DQ142398;DQ142399;DQ142400;DQ142401;DQ142402;DQ142403;DQ142404;DQ142405;DQ142412;DQ142413;DQ142414;DQ142415;DQ142416;DQ142417;DQ142418;DQ142419;DQ142420;DQ142421;DQ142422;DQ142423;DQ142424;DQ142425;DQ142426;DQ142427;DQ142428;DQ142429;DQ142430;DQ142431;DQ142432;DQ142433;DQ142434;DQ142435;DQ142436;DQ142437;DQ142438;DQ142439;DQ142440;DQ142441;DQ142442;DQ142443;DQ142444;DQ142445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AAH34496;AAK29063;AAK95642;ABA27447;ABA27448;ABA27449;ABA27450;ABA27451;ABA27452;ABA27453;ABA27454;ABA27455;ABA27456;ABA27457;ABA27458;ABA27459;ABA27460;ABA27461;ABA27462;ABA27463;ABA27464;ABA27465;ABA27466;ABA27467;ABA27468;ABA27469;ABA27470;ABA27471;ABA27472;ABA27473;ABA27474;ABA27475;ABA27476;ABA27477;ABA27478;ABA27479;ABA27480;ABA27481;ABA27482;ABA27483;ABA27484;ABA27485;ABA27486;ABA27487;ABA27488;ABA27489;ABA27490;ABA27491;ABA27492;ABA27493;ABA27494;ABA27495;ABA27496;ABA27497;ABA27498;ABA27499;ABA27500;ABA27501;ABA27502;ABA27503;ABA27504;ABA27505;ABA27506;ABA27507;ABA27508;ABA27509;ABA27510;ABA27511;ABA27512;ABA27513;ABA27514;ABA27515;ABA27516;ABA27517;ABA27518;ABA27519;ABA27520;ABA27521;ABA27522;ABA27523;ABA27524;ABA27525;ABA27526;ABA27527;ABA27528;ABA27529;ABA27530;ABA27531;ABA27532;ABA27533;ABA27534;ABA27535;ABA27536;ABA27537;ABA27538;ABA27539;ABA27540;ABA27541;ABA27542;ABA27543;ABA27544;ABA27545;ABA27546;ABA27547;ABA27548;ABA27549;ABA27550;ABA27551;ABA27552;ABA27553;ABA27554;ABA27555;ABA27556;ABA27557;ABA27558;ABA27559;ABA27560;ABA27561;ABA27562;ABA27563;ABA27564;ABA27565;ABA27566;ABA27567;ABA27568;ABA27569;ABA27570;ABA27571;ABA27572;ABA27573;ABA27574;ABA27575;ABA27576;ABA27577;ABA27578;ABA27579;ABA27580;ABA27581;ABA27582;ABA27583;ABA27584;ABA27585;ABA27586;ABA27587;ABA27588;ABA27589;ABA27590;ABA27591;ABA27592;ABA27593;ABA27594;ABA27595;ABA27596;ABA27597;ABA27598;ABA27599;ABA27600;ABA27601;ABA27602;ABA27603;ABA27604;ABA27605;ABA27606;ABA27607;ABA27608;ABA27609;ABA27610;ABA27611;ABA27612;ABA27613;ABA27614;ABA27615;ABA27616;ABA27617;ABA27618;ABA27619;ABA27620;ABA27621;ABA27622;ABA27623;ABA27624;ABA27625;ABA27626;ABA27627;ABA27628;ABA27629;ABA27630;ABA27631;ABA27632;ABA27633;ABA27634;ABA27635;ABA27636;ABA27637;ABA27638;ABA27639;ABA27640;ABA27641;ABA27642;ABA27643;ABA27644;ABA27645;ABA27646;ABA27647;ABA27648;ABA27649;ABA27650;ABA27651;ABA27652;ABA27653;ABA27654;ABA27655;ABA27656;ABA27657;ABA27658;ABA27659;ABA27660;ABA27661;ABA27662;ABA27663;ABA27664;ABA27665;ABA27666;ABA27667;ABA27668;ABA27669;ABA27670;ABA27671;ABA27672;ABA27673;ABA27674;ABA27675;ABA27676;ABA27677;ABA27678;ABA27679;ABA27680;ABA27681;ABA27682;ABA27683;ABA27684;ABA27685;ABA27686;ABA27687;ABA27688;ABA27689;ABA27690;ABA27691;ABA27692;ABA27693;ABA27694;ABA27695;ABA27696;ABA27697;ABA27698;ABA27699;ABA27700;ABA27701;ABA27702;ABA27703;ABA27704;ABA27705;ABA27706;ABA27707;ABA27708;ABA27709;ABA27710;ABA27711;ABA27712;ABA27713;ABA27714;ABA27715;ABA27716;ABA27717;ABA27718;ABA27719;ABA27720;ABA27721;ABA27722;ABA27723;ABA27724;ABA27725;ABA27726;ABA27727;ABA27728;ABA27729;ABA27730;ABA27731;ABA27732;ABA27733;ABA27734;ABA27735;ABA27736;ABA27737;ABA27738;ABA27739;ABA27740;ABA27741;ABA27742;ABA27743;ABA27744;ABA27745;ABA27746;ABA27747;ABA27748;ABA27749;ABA27750;ABA27751;ABA27752;ABA27753;ABA27754;ABA27755;ABA27756;ABA27757;ABA27758;ABA27759;ABA27760;ABA27761;ABA27762;ABA27763;ABA27764;ABA27765;ABA27766;ABA27767;ABA27768;ABA27769;ABA27770;ABA27771;ABA27772;ABA27773;ABA27774;ABA27775;ABA27776;ABA27777;ABA27778;ABA27779;ABA27780;ABA27781;ABA27782;ABA27783;ABA27784;ABA27785;ABA27786;ABA27787;ABA27788;ABA27789;ABA27790;ABA27791;ABA27792;ABA27793;ABA27794;ABA27795;ABA27796;ABA27797;ABA27798;ABA27799;ABA27800;ABA27801;ABA27802;ABA27803;ABA27804;ABA27805;ABA27806;ABA27807;ABA27808;ABA27809;ABA27810;ABA27811;ABA27812;ABA27813;ABA27814;ABA27815;ABA27816;ABA27817;ABA27818;ABA27819;ABA27820;ABA27821;ABA27822;ABA27823;ABA27824;ABA27825;ABA27826;ABA27827;ABA27828;ABA27829;ABA27830;ABA27831;ABA27832;ABA27833;ABA27834;ABA27835;ABA27836;ABA27837;ABA27838;ABA27839;ABA27840;ABA27841;ABA27842;ABA27843;ABA27844;ABA27845;ABA27846;ABA27847;ABA27848;ABA27849;ABA27850;ABA27851;ABA27852;ABA27853;ABA27854;ABA27855;ABA27856;ABA27857;ABA27858;ABA27859;ABA27860;ABA27861;ABA27862;ABA27863;ABA27864;ABA27865;ABA27866;ABA27867;ABA27868;ABA27869;ABA27870;ABA27871;ABA27872;ABA27873;ABA27874;ABA27875;ABA27876;ABA27877;ABA27878;ABA27879;ABA27880;ABA27881;ABA27882;ABA27883;ABA27884;ABA27885;ABA27886;ABA27887;ABA27888;ABA27889;ABA27890;ABA27891;ABA27892;ABA27893;ABA27894;ABA27895;ABA27896;ABA27897;ABA27898;ABA27899;ABA27900;ABA27901;ABA27902;ABA27903;ABA27904;ABA27905;ABA27906;ABA27907;ABA27908;ABA27909;ABA27910;ABA27911;ABA27912;ABA27913;ABA27914;ABA27915;ABA27916;ABA27917;ABA27918;ABA27919;ABA27920;ABA27921;ABA27922;ABA27923;ABA27924;ABA27925;ABA27926;ABA27927;ABA27928;ABA27929;ABA27930;ABA27931;ABA27932;ABA27933;ABA27934;ABA27935;ABA27936;ABA27937;ABA27938;ABA27939;ABA27940;ABA27941;ABA27942;ABA27943;ABA27944;ABA27945;ABA27946;ABA27947;ABA27948;ABA27949;ABA27950;ABA27952;ABA27956;ABA27957;ABA27958;ABA27959;ABA27960;ABA27961;ABA27962;ABA27963;ABA27964;ABA27965;ABA27966;ABA27967;ABA27968;ABA27969;ABA27970;ABA27971;ABA27972;ABA27973;ABA27974;ABA27975;ABA27976;ABA27977;ABA27978;ABA27979;ABA27980;ABA27981;ABA27982;ABA27983;ABA27984;ABA27985;ABA27986;ABA27987;ABA27988;ABA27989;ABA27990;ABA27991;ABA27992;ABA27993;ABA27994;ABA27995;ABA27996;ABA27997;ABA27998;ABA27999;ABA28000;ABA28001;ABA28002;ABA28003;ABA28004;ABA28005;ABA28006;ABA28007;ABA28008;ABA28009;ABA28010;ABA28011;ABA28012;ABA28013;ABA28014;ABA28015;ABA28016;ABA28017;ABA28018;ABA28019;ABA28020;ABA28021;ABA28022;ABA28023;ABA28024;ABA28025;ABA28026;ABA28027;ABA28028;ABA28029;ABA28030;ABA28031;ABA28032;ABA28033;ABA28034;ABA28035;ABA28036;ABA28037;ABA28038;ABA28039;ABA28040;ABA28041;ABA28042;ABA28043;ABA28044;ABA28045;ABA28046;ABA28047;ABA28048;ABA28049;ABA28050;ABA28051;ABA28052;ABA28053;ABA28054;ABA28055;ABA28056;ABA28057;ABA28058;ABA28059;ABA28060;ABA28061;ABA28062;ABA28063;ABA28064;ABA28065;ABA28066;ABA28067;ABA28068;ABA28069;ABA28070;ABA28071;ABA28072;ABA28073;ABA28074;ABA28075;ABA28076;ABA28077;ABA28078;ABA28079;ABA28080;ABA28081;ABA28082;ABA28083;ABA28084;ABA28085;ABA28086;ABA28087;ABA28088;ABA28089;ABA28090;ABA28091;ABA28092;ABA28093;ABA28094;ABA28095;ABA28096;ABA28097;ABA28098;ABA28099;ABA28100;ABA28101;ABA28102;ABA28103;ABA28104;ABA28105;ABA28106;ABA28107;ABA28108;ABA28109;ABA28110;ABA28111;ABA28112;ABA28113;ABA28114;ABA28115;ABA28116;ABA28117;ABA28118;ABA28119;ABA28120;ABA28121;ABA28122;ABA28123;ABA28124;ABA28125;ABA28126;ABA28127;ABA28128;ABA28129;ABA28130;ABA28131;ABA28132;ABA28133;ABA28134;ABA28135;ABA28136;ABA28137;ABA28138;ABA28139;ABA28140;ABA28141;ABA28142;ABA28143;ABA28144;ABA28145;ABA28146;ABA28147;ABA28148;ABA28149;ABA28150;ABA28151;ABA28152;ABA28153;ABA28154;ABA28155;ABA28156;ABA28157;ABA28158;ABA28159;ABA28160;ABA28161;ABA28162;ABA28163;ABA28164;ABA28165;ABA28166;BAG52640;EAW78459;NP_114161;Q9BXB7 Hs.444236 1784756 SHGC-154504 NYD-SP12;SPGF6 OTTHUMP00000210843;spermatogenesis associated 16;spermatogenesis-associated protein 16;testis development protein NYD-SP12;testis-specific Golgi protein APPROVED protein-coding ENSG00000144962 29935 11408 102530;609856 REVIEWED 731035 SPARC secreted protein, acidic, cysteine-rich (osteonectin) This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. [provided by RefSeq, Dec 2011] 5 5 q31.3-q32 151021201 151046710 - 151040657 151066615 - 1580863;2300051;2300070;2300025;2300062;2300063;2300071;2300027;2300030;2300026;2300072;2300058;2300024;2300019;2300022;2300069;2300056;2300020;2300021;2300052;6480464 17717147;8644857;11679940;11294850;10625572;8786698;10502421;18615449;10703670;8569083;12359048;11696817;17951402;16434596;8943481;12826287;17487382;17149610;17611274 20955243;14500371;2338025;7034958;1737102;14718574;19453261;19177197;18949063;18813945;18813349;18796407;18583538;18487610;18442089;18442048;18410576;18367635;18350569;18253934;18084690;18059024;17994631;17970686;17724718;17681430;17638862;17625595;17586526;17490812;17435158;17397030;17343824;17235047;17213807;17022822;16972886;16735494;16670288;16299239;16263253;16173048;16121393;16012759;15838642;15795937;15763439;15763438;15641096;15609325;15558074;15546965;15489334;15480132;15469933;15389586;15246191;15034927;15014008;14702039;12879219;12867428;12721366;12658547;12477932;12428242;12427131;12402984;12370830;12201246;12169206;11956183;11856645;11782382;11716067;11554745;11445660;10937551;10880278;10801822;10756178;10567433;9792673;9501084;9457905;9284812;9233787;8826089;8647860;8626499;8548457;8516290;7982919;7875683;7829101;7730416;7721952;7563094;7559469;6368555;3597437;3581152;3489235;3410046;3402455;3400777;2838412;2790009;2745554;2505905;7821789;20070483;22003835;22422640;22247475;2306517;1552170;1311092;1093755;20369286;20574156;21264231;19913121;20628086;20628624;20673868;19403984;19448421;19509023;19597474;19661316;19700761;19703125;19780053;19817957;19830689;19900269;19920824;20061390;20087345;20195270;20452482;20393008;20606036;20339379;21173124;19236378;20132490;20525171;20565704;18787407;20338068;20607658;20929508;20210803;21042566;21098700;21152079;22136411;22957090;18808384;22879971;22880013;21308731;21339733;21922274;22851666;21672357;21778250;21818290;21798346;21850018;21900206;21867537;21685937;21976959;22206672;21192846;22114076;22246794;22542805;22563191;22567126;22955913;21725199;21962567;22308039;22321704;22222271;22145659;21852239;22956186;23023935;23321672;22718352;23383963;23390502;22911700;21801304;23050783;22687753;23599341 6678 E5RJA5;E5RK62;F5GY03;F5H4E2;P09486 ABBA01026262;AC011374;AK096969;AK299441;AK315591;AMYH01015713;AY545555;BC004974;BC008011;BC072457;BI602719;BQ018477;CH471062;CR456799;D28381;J03040;M25746;NM_003118;Y00755 AAA60570;AAA60993;AAH04974;AAH08011;AAH72457;AAS50152;ABM84341;ABM87733;BAA05747;BAG37963;BAG61416;CAA68724;CAG33080;EAW61667;EAW61668;EAW61669;EAW61670;EAW61671;EAW61672;NP_003109;P09486 Hs.111779 1649394;1653929;1710932;1742689;1743195;1767649;2127886;2130833;2147101;2157870;2159562;2218052;5016773;5114057;5125787 234;A007I34;D5S2386;D5S2416;D5S444E;GDB:201800;GDB:294200;RH41219;RH47515;RH65614;RH68620;RH71413;SHGC-84435;SPARC_1369;STS-J03040 ON BM-40;OTTHUMP00000160617;basement-membrane protein 40;cysteine-rich protein;osteonectin;secreted protein acidic and rich in cysteine APPROVED protein-coding ENSG00000113140 11219 01631 182120 VALIDATED 1353232 SPATA12 spermatogenesis associated 12 3 3 3 p14.3 57060065 57075056 + 57069509 57084500 + 57094469 57109460 + 6480464 22981541;17251597;15603706;15490870;15489334;12477932 353324 Q0P657;Q7Z6I5 ABBA01024428;AC097358;AMYH01013215;AY221117;BC033337;BC126274;BC136498;CH471055;HC007300;NM_181727 AAH33337;AAI26275;AAI36499;AAP50852;ADR83499;CBH19455;EAW65328;NP_859078;Q7Z6I5 Hs.129794 1698034 RH102548 SRG5 OTTHUMP00000213688;spermatogenesis-associated protein 12;spermatogenesis-related protein 5 protein-coding ENSG00000186451 23221 15426 609869 PROVISIONAL 1353083 SPATA1 spermatogenesis associated 1 1 1 1 p22.3 83216252 83262706 + 84744601 84791368 + 84971902 85018807 + 12477932;11329013;11181995;15489334;16710414 100505741 Q5VX52 ABBA01045653;ABBA01045654;AF306347;AL359762;AMYH01000752;BC064144;BC119641;BC119642;BC127634;BG184610;CD300599;CH471097;XM_003118960;XM_003119805;XM_003960123 AAG22047;AAI19642;AAI19643;AAI27635;EAW73234;EAW73235;Q5VX52;XP_003119008;XP_003119853;XP_003960172 Hs.584956 1781766;2118156;2126144;2169361;2219062 CTBS__4649;SHGC-155518;SHGC-75066;SHGC-75072;WI-11830 MGC157666;SP-2;SPAP1 OTTHUMP00000011572;OTTHUMP00000232584;sperm-specific protein SP-2;spermatogenesis associated 1;spermatogenesis associated protein 1;spermatogenesis-associated protein 1;spermatogenesis-associated protein 1-like protein-coding 14682 MODEL 6481269 SPATA20P1 spermatogenesis associated 20 pseudogene 1 21 39610149 39610586 - 100874060 ABBA01011097;AMYH01012239;AP001434;NG_032331 pseudo 39636 INFERRED 1316520 SPATA13 spermatogenesis associated 13 13 13 13 q12.12 5797087 5943877 + 23632887 23776048 + 24734861 24881212 + 1580863;6480464 17599059;17145773;15489334;15057823;14702039;12477932;22837378;16344560;19151759;19910543;19934221;22745667;18029348;22064162;22419666 221178 E9PFR9;J3KQH2;J3KQJ8;Q5VX67;Q8N873 ABBA01007887;AK025586;AK055770;AK074117;AK092754;AK097217;AK123031;AK160371;AK297394;AK298717;AK299981;AK301149;AK307528;AL049335;AL359736;AMYH01004971;AMYH01004972;AMYH01004973;BC109290;BC109291;BK006072;BX648244;CH471075;DB221004;NM_001166271;NM_153023 AAI09291;AAI09292;BAB71009;BAB84943;BAC04977;BAD18714;BAG53856;BAG59834;BAG60873;BAG61802;BAG62740;DAA05848;EAX08331;EAX08332;NP_001159743;NP_694568;Q96N96 Hs.595391 1338175;1705120;1715045;1715931;1754849;1759497;1783814;2116555;2132709;2150330;2219710;5093316;5118718 A009L18;D11S3590;D13S1243;D13S850E;G32646;RH119475;RH122701;RH70141;SHGC-141772;SHGC-151206;SHGC-152360;SHGC-79986;SPATA13__5290 ARHGEF29;ASEF2;FLJ31208;FLJ35435;MGC129988;MGC129989;RP11-307N16.3 APC-stimulated guanine nucleotide exchange factor 2;OTTHUMP00000018126;OTTHUMP00000018128;OTTHUMP00000205783;OTTHUMP00000205784;OTTHUMP00000205785;OTTHUMP00000205786;adenomatous polyposis coli stimulated exchange factor 2;spermatogenesis-associated protein 13 protein-coding ENSG00000182957 23222 15427 613324 VALIDATED 1604999 SPATA17 spermatogenesis associated 17 1 1 1 q41 191028161 191263954 + 215871318 216107107 + 217804695 218040484 + 6480464 17081983;16710414;16395525;15489334;14702039;12477932;19483714;19680270;23079716 128153 Q96L03;R4GN71 ABBA01048109;ABBA01048110;ABBA01048111;ABBA01048112;ABBA01048113;AC097061;AK098591;AK310291;AL354659;AL445428;AMYH01001731;AMYH01001732;AY963797;BC014608;CH471100;NM_138796 AAH14608;AAY33662;ACE86774;ACE87460;ADZ15754;BAC05343;EAW93332;NP_620151;Q96L03 Hs.171130 1652038;1713031 A006V28;RH120297 IQCH;MSRG-11;MSRG11;RP11-144C20.1 IQ motif containing H;OTTHUMP00000035984;spermatogenesis-associated protein 17;spermatogenesis-related protein 11 protein-coding 25184 14039 611032 PROVISIONAL 1606969 SPATA18 spermatogenesis associated 18 4 4 4 q12 50412632 50458652 + 52612350 52658215 + 52917593 52963458 + 6480464 16088906;15489334;14702039;12477932;21264221;21264228;21300779;22990118;22292033 132671 D6RAW7;D6RAX6;D6RGI2;E7EVV3;Q8TC71 AB465501;AB465502;ABBA01003374;AC093858;AK057468;AK098625;AK304386;AK314799;AMYH01014173;BC025396;BC037886;CH471057;NM_145263 AAH25396;AAH37886;BAB71501;BAC05356;BAG65222;BAJ53738;BAJ53739;EAX05432;EAX05433;NP_660306;Q8TC71 Hs.527090 1727181;1757123;2132699 G62844;SHGC-144562;SHGC-67817 FLJ32906;Mieap;SPETEX1 OTTHUMP00000158881;OTTHUMP00000218598;OTTHUMP00000218599;mitochondria-eating protein;spermatogenesis associated 18 homolog;spermatogenesis-associated protein 18 APPROVED protein-coding ENSG00000163071 29579 14050 612814 PROVISIONAL 1602628 SPATA21 spermatogenesis associated 21 1 1 1 p36.13 15205065 15243856 - 16597725 16636506 - 16725138 16763919 - 6480464 12477932;21145461 374955 F5GXP5;H7C5T0;Q5VXG6;Q7Z572 ABBA01004668;ABBA01004669;ABBA01004670;AK128106;AK311614;AL358794;AMYH01000281;AY327405;BC022039;BC150598;CH471167;NM_198546 AAH22039;AAI50599;AAP92797;BAC87278;EAW51779;NP_940948;Q7Z572 Hs.705501 2142334;2163219 SHGC-33683;SHGC-74280 MGC27074;RP11-430L17.3;spergen-2;spergen2 OTTHUMP00000002439;spermatogenesis-associated protein 21 protein-coding ENSG00000187144 28026 14190 PROVISIONAL 1606425 SPATA19 spermatogenesis associated 19 11 11 11 q25 130884494 130889369 - 133215727 133220602 - 133710517 133715392 - 6480464 17081983;15489334;15302935;15139970;14702039;12688595;12477932;19886887;20682177;17207965 219938 Q7Z5L4 ABBA01031107;AF521713;AK098717;AMYH01004144;AP001979;BC058039;CH471065;HC007298;HC044807;NM_174927 AAH58039;AAP80739;ADQ32104;BAC05390;CBH19454;CBH30733;EAW67810;EAW67811;NP_777587;Q7Z5L4 Hs.97541 1709726 SHGC-86355 CT132;FLJ25851;SPAS1;spergen1 OTTHUMP00000235238;OTTHUMP00000235239;cancer/testis antigen 132;spergen 1;spergen-1;spermatogenesis-associated protein 19, mitochondrial;spermatogenic cell-specific gene 1 protein;spermatogenic specific-gene1 protein-coding ENSG00000166118 30614 11594 609805 PROVISIONAL 6481429 SPATA2P1 spermatogenesis associated 2 pseudogene 1 13 56788507 56791076 + 100873966 ABBA01037030;AL590304;NG_032304 pseudo 39446 INFERRED 1603970 SPATA20 spermatogenesis associated 20 17 17 17 q21.33 45085923 45094575 + 45979561 45988212 + 48624450 48633213 + 6480464 15231747;15489334;15223837;14702039;12477932;8125298;16341674;16344560;21988832;23118872 64847 D6R947;D6RC70;D6RIU6;H0Y9M1;H0Y9W3;Q8TB22 ABBA01041240;AC021491;AF086245;AK025000;AK025622;AK092731;AK125807;AK225189;AK291805;AK302850;AK308616;AK310416;AL137367;AMYH01008473;BC017468;BC025255;BC065526;BC111029;BM787432;CH471109;CR936769;DA295930;DA489234;DQ238597;NM_001258372;NM_001258373;NM_022827 AAH17468;AAH25255;AAH65526;AAI11030;ABB54669;BAB15051;BAB15192;BAF84494;BAG52603;BAG54251;BAG64037;CAH56380;EAW94603;EAW94604;EAW94605;NP_001245301;NP_001245302;NP_073738;Q8TB22 Hs.103147 1656939;1659331;2190929 G31146;MARC_11627-11628:1002815904:1;RH12494 DKFZp686H1839;FLJ21347;FLJ21969;MGC111032;SSP411;Tisp78 OTTHUMP00000221444;OTTHUMP00000221446;OTTHUMP00000221447;sperm protein SSP411;sperm-specific protein 411;spermatogenesis-associated protein 20;transcript increased in spermiogenesis 78 protein-coding ENSG00000006282 26125 07961 613939 VALIDATED 3005862 SPATA24 spermatogenesis associated 24 5 5 5 q31.2 134852451 134859487 - 138760355 138767652 - 138732456 138739776 - 6480464 17207965;12477932;16146721;16341674;19240791;18029348 202051 D6R9Q3;D6RBC8;H0Y992;H0YAD3;Q86W54;Q8N799 AA399058;ABBA01068638;AC135457;AK098740;AMYH01015651;BC040037;BC050563;BM785501;CH471062;NM_194296 AAH50563;ADQ33090;BAC05400;EAW62104;NP_919272;Q86W54 Hs.373612 CCDC161;T6441 OTTHUMP00000223719;OTTHUMP00000223720;OTTHUMP00000223721;OTTHUMP00000223723;OTTHUMP00000223725;coiled-coil domain containing 161;spermatogenesis-associated protein 24;testis protein T6441 homolog protein-coding ENSG00000170469 27322 VALIDATED 731260 SPATA2 spermatogenesis associated 2 20 20 20 q13.13 45224519 45236653 - 47953335 47965475 - 48519928 48532080 - 1580863;6480464 10222154;18364390;16189514;15489334;14702039;12531478;12477932;11780052;9872452;8889549;8889548;11160222;19605492;19615732;20385810;20953189;21832049;19322201;21139048 9825 A8K0S9;B4DID4;F5H3K3;Q9UM82 AB018300;ABBA01052759;AK023229;AK289644;AK295536;AL031685;AMYH01011968;BC009481;BU738682;CB992178;CH471077;N62318;NM_001135773;NM_006038;U28164 AAD28324;AAH09481;ABM84411;ABM87411;BAA34477;BAF82333;BAG51170;BAG58446;EAW75645;EAW75646;NP_001129245;NP_006029;Q9UM82 Hs.48513 1651422;1693390;1769482;2109879;2155368 AL034507;RH12086;RH79044;SPATA2_8999;STS-D25902 FLJ13167;KIAA0757;PD1;tamo OTTHUMP00000031253;spermatogenesis associated PD1;spermatogenesis-associated protein 2;spermatogenesis-associated protein PD1 protein-coding ENSG00000158480 14681 09636 607662 VALIDATED 1625823 SPATA31A4 SPATA31 subfamily A, member 4 9 9 p12 41311105 41317391 - 41321107 41327397 - 6480464 15164053;20850414 642629 J3KPE9;Q4VX67 ABBA01116003;AL596385;AMYH01019698;NM_001242613 CAI95396;NP_001229542;Q4VX67 Hs.740245 FAM75A4 OTTHUMP00000069659;chromosome 9 open reading frame 36-like;family with sequence similarity 75, member A4;hypothetical protein LOC642629;protein FAM75A4;spermatogenesis-associated protein 31A4 APPROVED protein-coding ENSG00000234214 32004 VALIDATED 1603417 SPATA31A5 SPATA31 subfamily A, member 5 9 9 p12 41490652 41496927 + 41500679 41506925 + 6480464 20850414 727905 Q5VU36 AL590491;AMYH01020906;NM_001113541 NP_001107013;Q5VU36 Hs.645497 FAM75A5 OTTHUMP00000015351;family with sequence similarity 75, member A5;hypothetical protein LOC727905;protein FAM75A5;spermatogenesis-associated protein 31A5 APPROVED protein-coding ENSG00000233788 32005 VALIDATED 2303681 SPATA31A6 SPATA31 subfamily A, member 6 9 9 p11.2 43564496 43570753 - 43624502 43630730 - 6480464 20850414 389730 Q5VVP1 ABBA01007848;AL445584;AMYH01020268;NM_001145196 NP_001138668;Q5VVP1 Hs.455299 FAM75A6 OTTHUMP00000015353;family with sequence similarity 75, member A6;hypothetical protein LOC389730;protein FAM75A6;spermatogenesis-associated protein 31A6 APPROVED protein-coding ENSG00000185775 32006 PROVISIONAL 1605588 SPATA2L spermatogenesis associated 2-like 16 16 16 q24.3 74827200 74832533 - 88290266 88295600 - 89762765 89768121 - 6480464 12477932;9110174;8619474;19615732;17207965;21906983 124044 H3BVE5;Q8IUW3 ABBA01014136;AC010538;AF070574;AK127372;AMYH01007938;BC027606;BC039608;BC053588;BI917028;CH471184;NM_152339 AAH27606;AAH39608;AAH53588;ADQ33009;BAG54497;EAW66697;EAW66698;EAW66699;NP_689552;Q8IUW3 Hs.374556 1667703;1698938;1730165 D18S77E;RH103038;SHGC-61182 C16orf76;MGC26885;tamo OTTHUMP00000175350;SPATA2-like protein;spermatogenesis-associated protein 2-like protein protein-coding ENSG00000158792 28393 14515 VALIDATED 1606760 SPATA22 spermatogenesis associated 22 17 17 17 p13.3 3357027 3388867 - 3290063 3321790 - 3343305 3375142 - 6480464 15713825;15489334;12477932;14702039;15342556;20378615;22990118 84690 F5GWB9;I3L1L5;I3L2B9;I3L3S6;I3L4D7;I3L4R7;I3L517;Q8NHS9 ABBA01054737;AC025125;AF367472;AK057485;AK295299;AK301892;AMYH01008030;AY032684;AY035867;AY035868;BC029483;BG716998;BI463957;BP371122;CH471108;DB450733;NM_001170695;NM_001170696;NM_001170697;NM_001170698;NM_001170699;NM_032598 AAH29483;AAK51120;AAK53408;AAK61373;AAK61374;ABM82168;ABM85354;BAG58280;BAG63323;EAW90508;EAW90509;EAW90510;EAW90511;EAW90512;NP_001164166;NP_001164167;NP_001164168;NP_001164169;NP_001164170;NP_115987;Q8NHS9 Hs.351068 1680807 RH92507 NYD-SP20;NYDSP20 spermatogenesis-associated protein 22;testes development-related NYD-SP20;testis development protein NYD-SP20 protein-coding ENSG00000141255 30705 14862 VALIDATED 4109369 SPATA31C2 SPATA31 subfamily C, member 2 9 9 q22.1 89934038 89939733 - 90744220 90749900 - 16344560 645961 B4DYI2;Q9Y4N5 ABBA01016502;AK302448;AL080179;AL353726;AMYH01021488;AMYH01021489;DB061043;NM_001166137 BAG63744;CAB45764;NP_001159609 Hs.632070 DKFZp434M131;FAM75C2 family with sequence similarity 75, member C2;hypothetical protein LOC645961;uncharacterized protein LOC645961 APPROVED protein-coding 24508 VALIDATED 4140076 SPATA31D2P SPATA31 subfamily D, member 2, pseudogene 9 9 9 q21.32 55151770 55156498 + 83763176 83773523 + 84581478 84586206 + 100130636 ABBA01033986;AL158154;AL355985;AMYH01021452;NG_009643 1951472 REN46592 FAM75D2P APPROVED pseudo 38607 INFERRED 1601912 SPATA31D1 SPATA31 subfamily D, member 1 9 9 9 q21.32 55173976 55180460 + 83793507 83799986 + 84603687 84610171 + 22118674 389763 Q6ZQQ2 ABBA01033987;AK128831;AL355985;AMYH01021452;CH471089;NM_001001670 BAC87631;EAW62640;NP_001001670;Q6ZQQ2 Hs.209545 FAM75D1;FLJ46321 FAM75-like protein FLJ46321;OTTHUMP00000240119;family with sequence similarity 75, member D1;hypothetical protein LOC389763;protein FAM75D1;spermatogenesis-associated protein 31D1 APPROVED protein-coding ENSG00000214929 37283 13531 VALIDATED 4140044 SPATA31D4 SPATA31 subfamily D, member 4 9 9 q21.32 83733163 83739736 + 84543343 84549913 + 6480464 389761 Q6ZUB0 ABBA01203260;AK125847;AK308327;AL158154;AMYH01021448;AMYH01021449;AMYH01021450;NM_001145197 BAC86316;NP_001138669;Q6ZUB0 Hs.722630 2145037 CHLC.GAAT4F02 FAM75D4;FLJ43859 FAM75-like protein FLJ43859;family with sequence similarity 75, member D4;hypothetical protein LOC389761;putative protein FAM75D4;putative spermatogenesis-associated protein 31D4 APPROVED protein-coding 38601 VALIDATED 1626193 SPATA31C1 SPATA31 subfamily C, member 1 9 9 9 q22 61098591 61104286 + 89722684 89728394 + 90532877 90538572 + 16344560;14702039 441452 P0DKV0 ABBA01016508;AK093374;AL353572;AMYH01021481;DB065037;NM_001145124 B4DYI2;NP_001138596;P0DKV0 Hs.652956 FAM75C1;FLJ36055;SPATA31C2 family with sequence similarity 75, member C1;hypothetical protein LOC441452;spermatogenesis-associated protein 31C2;uncharacterized protein LOC441452 APPROVED protein-coding 27846 VALIDATED 1351206 SPATA25 spermatogenesis associated 25 20 20 20 q13.12 41226588 41227696 - 43948537 43949645 - 44515130 44516238 - 6480464 19240080;15489334;12477932;11780052 128497 Q9BR10 ABBA01052670;AL008726;AMYH01011939;BC039607;CH471077;NG_008291;NG_033108;NM_080608 AAH39607;EAW75791;NP_542175;Q9BR10 Hs.128235 C20orf165;TSG23;dJ337O18.8 OTTHUMP00000031188;chromosome 20 open reading frame 165;spermatogenesis-associated protein 25;testis-specific gene 23 protein;uncharacterized protein C20orf165 APPROVED protein-coding ENSG00000149634 16158 12754 VALIDATED 4140036 SPATA31D3 SPATA31 subfamily D, member 3 9 9 q21.32 83748235 83754829 + 84558415 84565009 + 6480464 14702039;15164053 389762 P0C874 AK126070;AL158154;AMYH01021450;AMYH01021451;AMYH01021452;NM_207416 NP_997299;P0C874 Hs.522246 2145037 CHLC.GAAT4F02 FAM75D3;FLJ44082 FAM75-like protein FLJ44082;Putative FAM75-like protein FLJ44082;family with sequence similarity 75, member D3;hypothetical protein LOC389762;putative protein FAM75D3;putative spermatogenesis-associated protein 31D3 APPROVED protein-coding 38603 VALIDATED 6480579 SPATA31E3P SPATA31 subfamily E, member 3, pseudogene 15 q11.2 23466077 23470058 - 646507 AC100757;AMYH01006452;AMYH01006453;NG_022101 FAM75E3P APPROVED pseudo 43828 INFERRED 6480578 SPATA31E2P SPATA31 subfamily E, member 2, pseudogene 15 q11.2 20798691 20802672 - 646177 ABBA01184355;AC131280;NG_022095 FAM75E2P APPROVED pseudo 43827 INFERRED 1317781 SPATA3 spermatogenesis associated 3 2 2 2 q37.1 225637075 225647511 + 231569086 231580243 + 231860839 231871999 + 6480464 12812072;16344560;14702039;12477932;20379614 130560 F8WDD9;H7C283;H7C3E6;Q8NHX4 ABBA01050108;AC009407;AC105344;AK093385;AK126086;AMYH01011554;AY032925;BC036248;BC047704;CH471063;DB034232;DB446786;NM_139073 AAH47704;AAK54455;BAC04149;EAW70942;EAW70943;EAW70944;EAW70945;NP_620712;Q8NHX4 Hs.121021 TSARG1 OTTHUMP00000204858;OTTHUMP00000204859;OTTHUMP00000204865;spermatogenesis-associated protein 3;testis and spermatogenesis cell apoptosis related gene 1;testis and spermatogenesis cell-related protein 1;testis spermatocyte apoptosis-related protein 1 protein-coding ENSG00000173699 17884 15428 VALIDATED 1606852 SPATA31A2 SPATA31 subfamily A, member 2 9 9 p13.1 39874975 39881210 + 39884975 39891210 + 12477932;20850414 642265 Q5RGS2 AK302569;AMYH01019446;AMYH01019447;AMYH01019448;AMYH01019449;AMYH01019450;AMYH01019451;AMYH01019452;AMYH01019453;AMYH01019454;AMYH01019455;AMYH01019456;AMYH01019457;AMYH01019458;AMYH01019459;AMYH01019460;AMYH01019461;AMYH01019462;AMYH01019463;AMYH01019464;AMYH01019465;AMYH01019466;AMYH01019467;AMYH01019468;AMYH01019469;AMYH01019470;AMYH01019471;AMYH01019472;AMYH01019473;AMYH01019474;AMYH01019475;AMYH01019476;AMYH01019477;AMYH01019478;AMYH01019479;AMYH01019480;AMYH01019481;AMYH01019482;AMYH01019483;AMYH01019484;AMYH01019485;AMYH01019486;AMYH01019487;AMYH01019488;AMYH01019489;AMYH01019490;AMYH01019491;AMYH01019492;AMYH01019493;AMYH01019494;AMYH01019495;AMYH01019496;AMYH01019497;AMYH01019498;AMYH01019499;AMYH01019500;AMYH01019501;AMYH01019502;AMYH01019503;AMYH01019504;AMYH01019505;AMYH01019506;AMYH01019507;AMYH01019508;AMYH01019509;AMYH01019510;AMYH01019511;AMYH01019512;AMYH01019513;AMYH01019514;AMYH01019515;AMYH01019516;AMYH01019517;AMYH01019518;AMYH01019519;AMYH01019520;AMYH01019521;AMYH01019522;AMYH01019523;AMYH01019524;AMYH01019525;AMYH01019526;AMYH01019527;AMYH01019528;AMYH01019529;AMYH01019530;AMYH01019531;AMYH01019532;AMYH01019533;AMYH01019534;AMYH01019535;AMYH01019536;AMYH01019537;AMYH01019538;AMYH01019539;AMYH01019540;AMYH01019541;AMYH01019542;AMYH01019543;AMYH01019544;AMYH01019545;AMYH01019546;AMYH01019547;AMYH01019548;AMYH01019549;AMYH01019550;AMYH01019551;AMYH01019552;AMYH01019553;AMYH01019554;AMYH01019555;AMYH01019556;AMYH01019557;AMYH01019558;AMYH01019559;AMYH01019560;AMYH01019561;AMYH01019562;AMYH01019563;AMYH01019564;AMYH01019565;AMYH01019566;AMYH01019567;AMYH01019568;AMYH01019569;AMYH01019570;AMYH01019571;AMYH01019572;AMYH01019573;BC146855;BX664726;NM_001040065 AAI46856;BAG63831;CAI17100;NP_001035154;Q5RGS2 Hs.575677 FAM75A2;FLJ56363 OTTHUMP00000015476;family with sequence similarity 75, member A2;hypothetical protein LOC642265;protein FAM75A2;spermatogenesis-associated protein 31A2 APPROVED protein-coding ENSG00000204848 32002 PROVISIONAL 1603719 SPATA31A3 SPATA31 subfamily A, member 3 9 9 p13.1 40690291 40696537 + 40700291 40706537 + 12477932;20850414 727830 Q5VYP0 AL080148;AL353770;NM_001083124 CAB45741;NP_001076593;Q5VYP0 Hs.632078 DKFZp434B204;FAM75A3;MGC181958 OTTHUMP00000015349;family with sequence similarity 75, member A3;hypothetical protein LOC727830;protein FAM75A3;spermatogenesis-associated protein 31A3 APPROVED protein-coding ENSG00000147926 32003 PROVISIONAL 7245774 SPATA42 spermatogenesis associated 42 (non-protein coding) 642864 AA401510;AA401900;ABBA01068355;AL449266;AMYH01000926;AY312144;CH471122;NG_032762;NR_034168;NR_049777 AAQ79816;EAW56339 Hs.372658 AKNAD1-AS1;SRG7 miscrna ENSG00000203897 41198 VALIDATED 4140069 SPATA31D5P SPATA31 subfamily D, member 5, pseudogene 9 9 q21.32 83718203 83724662 + 84528352 84534842 + 12477932;16344560 347127 Q6ZU75 ABBA01202296;AK125938;AK128229;AL158154;AMYH01021448;BC104780;BC104782;BX096267;DB098739;NR_026851 BAC86351 Hs.215235 FAM75D5;FAM75D5P;FLJ43950;FLJ46362;MGC132440;MGC132442 APPROVED pseudo ENSG00000240632 38602 VALIDATED 1351279 SPATA31E1 SPATA31 subfamily E, member 1 9 9 9 q22.1 61066984 61073026 + 89687592 89693634 + 90497772 90503814 + 15164053;14702039;12477932 286234 Q6ZUB1;Q8NA33 ABBA01016501;AK093185;AK093206;AK125845;AL772337;AL834438;AMYH01021479;BC137349;CH471089;HC006860;HC044793;NM_178828 AAI37350;BAC04087;BAC04096;BAC86315;CAD39098;CBH19235;CBH30726;EAW62739;EAW62740;NP_849150;Q6ZUB1 Hs.130672 1758489 SHGC-148454 C9orf79;FAM75E1;FLJ35866 FAM75-like protein C9orf79;OTTHUMP00000021605;XXyac-YM21GA2.5;family with sequence similarity 75, member E1;protein FAM75E1;spermatogenesis-associated protein 31E1 APPROVED protein-coding ENSG00000177992 26672 12979 VALIDATED 1317463 SPATA5L1 spermatogenesis associated 5-like 1 15 15 15 q21.1 22585940 22605033 + 43481878 43500905 + 45694519 45713617 + 737633;1580863;6480464 12477932 19430482;14702039;21145461;8125298;20383146;21963094;23000965;23535967;21987572;21906983;22505724 79029 H0YCA5;H0YL79;Q9BVQ7 AA451905;ABBA01039184;AC025580;AF086107;AK022348;AK023232;AK225463;AK291457;AMYH01006618;BC000981;BC051861;CH471082;DC346759;NM_024063;NR_027635 AAH00981;BAB14017;BAB14482;BAF84146;EAW77310;EAW77311;NP_076968;Q9BVQ7 Hs.369657 2155319;5127040 SGC32822;STS-D20163 FLJ12286;MGC5347 OTTHUMP00000162118;spermatogenesis-associated protein 5-like protein 1 protein-coding ENSG00000171763 28762 11596 VALIDATED 1602656 SPATA33 spermatogenesis associated 33 16 16 16 q24.3 74788682 74802150 + 88251711 88265176 + 89724210 89737675 + 6480464 14702039;12477932;23844118;23456168;15342556;8889548 124045 B4DZN8;H3BQG0;H3BSG8;J3KRC8;J3KS00;J3KS58;J3KSB2;Q96N06 ABBA01014138;AC010538;AK056168;AK125673;AK128803;AK303024;AMYH01007938;BC045670;BC148299;BP345094;BQ575829;BU741532;CB216379;CH471184;DA300380;DB025192;DB452323;DC357681;DC374690;NM_001271907;NM_001271908;NM_001271909;NM_001271910;NM_153025;NR_073515;NR_073516 AAH45670;AAI48300;AAI60108;BAB71109;BAG64150;EAW66713;EAW66714;NP_001258836;NP_001258837;NP_001258838;NP_001258839;NP_694570;Q96N06 Hs.655171 5015861;5016781;5037552;5121544;7185938 D10S16;D8S2279;RH46334;SHGC-67307 C16orf55;FLJ31606 OTTHUMP00000175351;hypothetical protein LOC124045;uncharacterized protein C16orf55 APPROVED protein-coding ENSG00000167523 26463 08105 VALIDATED 1604921 SPATA41 spermatogenesis associated 41 (non-protein coding) 15 15 15 q26.3 77300344 77306606 - 98706552 98708446 - 100884662 100890923 - 16344560;14702039;12477932 388182 Q6ZVN6 ABBA01020540;ABBA01020541;AC015723;AK057536;AK124283;AMYH01006971;AY605659;BC028144;BC068097;BC132704;BC132706;CH471101;DB060272;NR_028139;NR_028140 AAH28144;AAV83777;BAC85825;EAX02265;EAX02266;Q6ZVN6 Hs.136982 FLJ32974;HSD47 APPROVED miscrna ENSG00000189419 48613 16960 VALIDATED 1603588 SPATA32 spermatogenesis associated 32 17 17 17 q21.31 40041127 40048846 - 40687543 40695262 - 43331760 43339479 - 15489334;15342556;14702039;12477932;21048031;18621766 124783 B7Z7K7;K7EPE1;K7EQM9;Q96LK8 ABBA01028318;AC008105;AF433663;AK058143;AK302184;AMYH01008442;BC028124;BP369808;BP370574;CH471178;NM_152343 AAH28124;AAP97314;BAB71683;BAH13643;EAW51532;NP_689556;Q96LK8 Hs.412719 1656743;1796286;2165470;5493932 AB070159;MAP3K14_912;SHGC-32453;STS-D29513 AEP2;C17orf46;FLJ25414;TEX34;VAD1.2 acrosome expressed 2;hypothetical protein LOC124783;spermatogenesis-associated protein 32;testis expressed 34;testis-expressed sequence 34 protein;uncharacterized protein C17orf46 APPROVED protein-coding ENSG00000184361 26349 08690 VALIDATED 7245290 SPATA8-AS1 SPATA8 antisense RNA 1 (head to head) 100652749 AA812851;ABBA01032414;AC027004;AMYH01006952;HY049461;HY244176;NR_102753;NR_102754;XR_132596;XR_159257;XR_172100 Hs.303588 miscrna ENSG00000259282 48627 VALIDATED 1348615 SPATA4 spermatogenesis associated 4 4 4 4 q34.2 174433712 174444808 - 177342719 177353816 - 177105725 177116822 - 6480464 12019456;15489334;15158438;12477932;16336790;20379614;17207965;21832049;22990118;21827752 132851 G5E9Y6;H0YA30;Q8NEY3 ABBA01070410;ABBA01070411;AC093605;AMYH01014733;AMYH01014734;AY040204;BC021731;BC029428;BC039342;CH471056;HC007304;NM_144644 AAH21731;AAH39342;AAK72463;ADQ31844;CBH19457;EAX04721;EAX04722;NP_653245;Q8NEY3 Hs.481235 1679237 RH92388 MGC33432;SPEF1B;TSARG2 OTTHUMP00000218986;spermatogenesis-associated protein 4;testis and spermatogenesis cell related protein 2;testis and spermatogenesis cell-related protein 2;testis spermatocyte apoptosis-related gene 2 protein protein-coding ENSG00000150628 17333 15429 609879 PROVISIONAL 1344287 SPATC1 spermatogenesis and centriole associated 1 8 8 8 q24.3 141422681 141430005 + 145158595 145174003 + 145086582 145102015 + 737633;6480464 12477932 16344560;15280373;20542897 375686 Q76KD6 AB092352;ABBA01005226;ABBA01005227;ABBA01005228;ABBA01232027;AC109322;AC206437;AK301710;AMYH01019123;AMYH01019124;AMYH01019125;BC050390;BC053547;CH471162;DB052198;NM_001134374;NM_198572 AAH50390;AAH53547;BAD08232;BAG63181;EAW82167;NP_001127846;NP_940974;Q76KD6 Hs.97726 1707826;2156300 RH77878;SHGC-82142 MGC61633;SPATA15;SPERIOLIN OTTHUMP00000211206;OTTHUMP00000211207;speriolin;spermatogenesis and centriole-associated protein 1;spermatogenesis-associated protein 15;spermatogenic cell-specific Cdc20-binding protein protein-coding ENSG00000186583 30510 15433 610874 VALIDATED 1321404 SPATA5 spermatogenesis associated 5 4 4 4 q28.1 121227068 121623149 + 124063675 124460055 + 123844225 124240605 + 1580863;6480464;6907045 16465403;15489336;14702039;12477932;11256614;11230166;11076863;10734318;16381901;16344560;20379614;22027810;21822266;21890473;21906983;22505724 166378 Q8NB90 ABBA01044743;ABBA01044744;ABBA01044745;ABBA01044746;ABBA01044747;ABBA01044748;AC021205;AC026402;AC097492;AC109357;AF361489;AF479656;AK091384;AL832175;AMYH01014495;AMYH01014496;AMYH01014497;BC048217;CH471056;CR738547;DA619323;NM_145207 AAH48217;AAM00262;AAM43608;BAC03651;CAL37817;CAL38707;EAX05213;EAX05214;EAX05215;EAX05216;NP_660208;Q8NB90 Hs.709648 1334621;1335106;1659812;1671843;1708166;1749095;1751841;2180511;5016478;5016700;5022200;5022578;5022588;5037552;5116670;5117897;7186144 D1S1423;D4S194;D4S2985;D4S3250;D5S1597E;D8S2279;GDB:434012;GDB:631813;L18426;RH79802;SHGC-105842;SHGC-110750;SHGC-24253;SHGC-64097;SHGC-79330;sY3122 AFG2;SPAF ATPase family gene 2 homolog;ATPase family protein 2 homolog;OTTHUMP00000164089;spermatogenesis associated factor SPAF;spermatogenesis-associated factor protein;spermatogenesis-associated protein 5 protein-coding 18119 11595 613940 VALIDATED 732866 SPATA6 spermatogenesis associated 6 1 1 1 p33 47047765 47224218 - 48536865 48710432 - 48761044 48937876 - 6480464 16344560;16710414;15489334;14702039;12509440;12477932;11735130 54558 A8MU33;B1AN51;Q9NWH7 ABBA01050803;ABBA01050804;AK000869;AK301770;AL356968;AL359959;AMYH01000599;AMYH01000600;BC020660;BC040655;CH471059;DB025426;NM_019073 AAH20660;ABM82927;ABM86117;BAA91403;BAG63229;EAX06854;EAX06855;NP_061946;Q9NWH7 Hs.538103 1338629;1676440;1680711;1682896;1717319;1847621;2120480;2179374 Bda71b04;D1S2824;G19623;RH122150;RH66845;RH75579;SHGC-74769;WI-14342 FLJ10007;HASH;SRF-1;SRF1 OTTHUMP00000009461;OTTHUMP00000009462;spermatogenesis-associated protein 6;spermatogenesis-related factor-1 protein-coding ENSG00000132122 18309 15430 613947 VALIDATED 736705 SPATS1 spermatogenesis associated, serine-rich 1 6 6 6 p21.1 45863578 45898081 + 44418464 44452882 + 44310397 44344904 + 6480464 12477932;20603214 221409 D6RF91;H0Y9A9;Q496A3 AA400657;ABBA01050639;AK058171;AL353588;AMYH01016322;BC100956;BC100957;BC100958;BC100959;BC110065;BC111414;CH471081;DB460008;NM_145026 AAI00957;AAI00958;AAI00959;AAI00960;AAI10066;AAI11415;BAB71701;EAX04269;NP_659463;Q496A3 Hs.135283 1701082;1786082;2127001;2138902 D6S2438;G15807;RH104168;SHGC-156116 DDIP;FLJ25442;MGC119210;MGC119211;MGC119212;MGC119213;MGC133020;SPATA8;SRSP1 OTTHUMP00000217363;spermatogenesis-associated serine-rich protein 1 protein-coding ENSG00000249481 22957 10248 VALIDATED 1347601 SPATA8 spermatogenesis associated 8 15 15 15 q26.2 73743232 73745401 + 95127680 95129849 + 97326676 97328845 + 17207965;18951430;15489334;12477932;16809841;23251661 145946 H0YL21;Q6RVD6 ABBA01032414;AC027004;AMYH01006952;AY489187;BC033979;BC066292;BC112390;CH471101;HC007306;HC044843;NM_173499 AAH33979;AAH66292;AAI12391;AAR39432;ADQ31928;ADR82716;CBH19458;CBH30751;EAX02204;EAX02205;NP_775770;Q6RVD6 Hs.326528 1686434 RH92026 MGC102678;MGC44294;SRG8 OTTHUMP00000194780;spermatogenesis-associated protein 8;spermatogenesis-related protein 8 protein-coding ENSG00000185594 28676 15432 613948 PROVISIONAL 1320709 SPATA6L spermatogenesis associated 6-like 9 9 9 p24.2 4520019 4589180 - 4588316 4656464 - 4598316 4666674 - 6480464 16344560;15489334;15164053;14702039;12477932;20379614;17207965 55064 E7ENB5;F8W9P2;Q8N4H0;Q9NWF6 ABBA01065420;ABBA01065421;AI680014;AK000920;AK295831;AK301790;AL136231;AL162587;AMYH01019201;BC034293;BC036349;BX649030;CH471071;DA234263;DA926064;H05132;NM_001039395 AAH34293;ADQ32396;BAA91425;BAG58646;BAG63245;EAW58783;EAW58784;NP_001034484;Q8N4H0 Hs.179615 1339870;1649665;1655598;1661304;1678927;1735944;1759015;1766789;1767119;1798170;2149168;2152134;2175093;5022200;5107469;5112017 D9S1071E;D9S1151;D9S1686;D9S1982;G44365;L18426;RH11999;RH15877;RH70490;RH91722;SHGC-151108;SHGC-152110;SHGC-24270;SHGC-35927;SLC1A1_2172;STS-AA026012 C9orf68;FLJ10058;RP11-280I16.2;bA6J24.2 OTTHUMP00000214972;OTTHUMP00000214974;OTTHUMP00000214976;hypothetical protein LOC55064;spermatogenesis associated 6-like protein;uncharacterized protein C9orf68 APPROVED protein-coding ENSG00000106686 25472 12973 VALIDATED 1317981 SPATA9 spermatogenesis associated 9 5 5 5 q15 90872445 90897462 - 95019775 95044470 - 94994019 95018714 - 6480464 14702039;16963046;16344560;15489334;12493713;12477932;21946350 83890 Q9BWV2 ABBA01069249;AC008547;AC008840;AK093225;AK292338;AK310260;AMYH01015490;AY027526;BC032832;BC047333;BQ013593;CH471084;DB027274;NM_031952 AAH32832;AAH47333;AAK16746;BAC04101;BAF85027;EAW96046;EAW96047;NP_114158;Q9BWV2 Hs.50499 1689997;1697478;1698186;1718419 RH102240;RH102629;RH122411;RH98545 FLJ35906;NYD-SP16 OTTHUMP00000190889;spermatogenesis-associated protein 9;testis development protein NYD-SP16 protein-coding ENSG00000145757 22988 12155 608039 VALIDATED 1345087 SPATA7 spermatogenesis associated 7 This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] 14 14 14 q31.3 68897730 68950399 + 87921765 87974557 + 88851988 88904804 + 6480464;7240710 19268277;16381901;15489336;15489334;14702039;12736779;12508121;12477932;11230166;11076863;8125298;21310915;16344560;21130836;20104588;9799089;21832049;22219627;22136677;20301475 55812 G3V287;G3V2E1;G3V2V4;G3V3D2;G3V491;G3V4A9;G3V5H6;G3V5N2;G3V5V8;H0YJ48;H0YJ93;Q9P0W8 ABBA01030532;AF144487;AF144488;AK055864;AK225746;AK290631;AK293007;AL049834;AL136604;AL353786;AMYH01005933;BC008656;BC034635;BC037809;BC090875;CH471061;CR533563;CR936777;DA568174;NG_021183;NM_001040428;NM_018418 AAF66077;AAF66078;AAH08656;AAH90875;BAF83320;BAF85696;BAG51586;CAB66539;CAD18999;CAG38594;CAL38116;EAW81376;EAW81377;EAW81378;EAW81379;EAW81380;EAW81381;NP_001035518;NP_060888;Q9P0W8 Hs.525518 1765291;2171681 SHGC-148790;WI-14643 DKFZp686D07199;HSD-3.1;HSD3;LCA3;MGC102934 OTTHUMP00000244291;OTTHUMP00000244292;OTTHUMP00000244304;spermatogenesis-associated protein 7;spermatogenesis-associated protein HSD3 APPROVED protein-coding ENSG00000042317 20423 15431 604232;609868 REVIEWED 1344058 SPATC1L spermatogenesis and centriole associated 1-like 21 21 21 q22.3 32693446 32716761 - 46405498 46428729 - 47581062 47604373 - 6480464 15231747;16381901;15489336;15489334;12477932;11230166;11076863;10830953 84221 Q9H0A9 ABBA01021756;AK304535;AK309847;AL136871;AMYH01012335;AP001468;AP001759;AW138006;BC009497;BC065570;BC084577;BC093804;BC112293;CH471079;CR533451;NM_001142854;NM_032261 AAH09497;AAH65570;AAH84577;AAH93804;AAI12294;ADR82844;BAA95497;BAG65335;CAB66805;CAG38482;CAL38578;CAL38595;EAX09306;EAX09307;NP_001136326;NP_115637;Q9H0A9 Hs.381214 1753629;1763899 SHGC-107520;SHGC-147567 C21orf56;DKFZp434N0650;MGC99490 OTTHUMP00000115562;OTTHUMP00000225512;hypothetical protein LOC84221;speriolin-like protein;spermatogenesis and centriole-associated protein 1-like protein;uncharacterized protein C21orf56 APPROVED protein-coding ENSG00000160284 1298 10753 612412 VALIDATED 1342746 SPCS2P1 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1 15 q15.2 43423217 43423885 + 100131250;255320 ABBA01038353;AC068724;AMYH01006587;NG_022127;XM_170777 SPCS2P APPROVED pseudo 31885 INFERRED 7241987 SPCS2P2 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2 644573 ABBA01063229;AL138921;AMYH01002997;NG_022158 pseudo 45235 INFERRED 7241954 SPCS2P3 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3 100288739 ABBA01034232;AC010427;AC026740;AMYH01014847;NG_021874 pseudo 45236 INFERRED 7241942 SPCS2P4 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 653566 ABBA01035010;AL137792;AMYH01000427;CH471059;NG_006558 EAX07712 1667645;1748511 SGC30257;SHGC-32778 pseudo 45237 INFERRED 1312420 SPATS2 spermatogenesis associated, serine-rich 2 12 12 12 q13.12 48553967 48715667 + 48046955 48207474 + 49760688 49921207 + 6480464 17989879;16344560;15146197;14702039;12477932;11944913;20379614;21832049;22939629;22190034 65244 F8VRH4;F8VS10;F8VVF0;F8VX46;F8VX66;F8VXB3;F8VXP9;F8VZS5;F8W128;F8W1X1;Q86XZ4 AB075515;ABBA01031522;ABBA01031523;ABBA01031524;ABBA01031525;ABBA01031526;AC009246;AC078826;AC125611;AK023179;AK023202;AK024678;AK095582;AK292334;AL833614;AMYH01004442;AMYH01004443;AMYH01004444;AMYH01004445;BC017767;BC032441;BC048299;BX648916;CH471111;CN421379;DB305045;NM_023071 AAH48299;BAB14448;BAB14460;BAB14958;BAE45760;BAF85023;EAW58068;EAW58069;EAW58070;EAW58071;NP_075559;Q86XZ4 Hs.654826 1336730;1690069;1690147;1699990;1712472;1712474;1746711;1774559;2130138;2160018;5014051;5022578;5022651;5024761;5037552;5121597 A002Y39;D11S2921;D12S1627;D1S1423;D8S2278;D8S2279;G54184;G54185;G64346;RH103605;RH36905;RH68475;RH80150;RH93010;SHGC-33198;SHGC-56536 FLJ13117;Nbla00526;P59SCR;SCR59;SPATA10 OTTHUMP00000241027;OTTHUMP00000241091;OTTHUMP00000241092;putative protein product of Nbla00526;serine-rich spermatocytes and round spermatid 59 kDa protein;serine-rich spermatocytes and round spermatid protein;spermatogenesis-associated serine-rich protein 2 protein-coding ENSG00000123352 18650 15434 611667 VALIDATED 1353202 SPCS3 signal peptidase complex subunit 3 homolog (S. cerevisiae) 4 4 4 q34.2 174568936 174581241 + 177478109 177487348 + 177241090 177253396 + 737633;6480464 12477932 16344560;15489334;14702039;12975309;11230166;11256614;17207965;21987572;21139048;21890473;21906983;22190034;22505724 60559 P61009 ABBA01070413;AC019163;AK026302;AK092634;AL136660;AMYH01014734;AY359044;BC043490;BC047290;BC053883;CH471056;CQ834702;DB285025;NM_021928 AAH47290;AAQ89403;ACE86569;ACE87252;ADQ33088;BAB15437;CAB66595;CAH05566;EAX04718;EAX04719;NP_068747;P61009 Hs.42194 1695088;2151994;2160734;5037552;5112323 D4S3217;D4S699;D8S2279;RH103378;SHGC-67361 DKFZp564J1864;FLJ22649;PRO3567;SPC22/23;SPC3;YLR066W OTTHUMP00000218989;SPase 22 kDa subunit;SPase 22/23 kDa subunit;microsomal signal peptidase 22/23 kDa subunit;microsomal signal peptidase 23 kDa subunit;signal peptidase complex subunit 3 protein-coding ENSG00000129128 26212 08001 VALIDATED 1607063 SPATS2L spermatogenesis associated, serine-rich 2-like 2 2 2 q33.1 194925314 195101826 + 200878849 201055231 + 201170604 201346986 + 6480464 11256614;16381901;16344560;15489336;15342556;14702039;12477932;11230166;11076863;19005571;19727025;17549794;19913121;20628086;21139048;22792082;22113938;23054586 26010 B4DRE6;B4DT67;B8ZZZ7;C9IZC3;C9J8M7;C9JGM8;C9JKE4;C9JW67;F2Z2S1;F8VT91;F8VZ02;F8W6C2;F8WAV0;H7C2G5;Q4ZFW0;Q9NUQ6 ABBA01062511;ABBA01062512;ABBA01062513;ABBA01062514;ABBA01062515;AC012459;AC074213;AC105381;AF193059;AK002064;AK021816;AK090703;AK090867;AK092917;AK290496;AK299223;AK300075;AK314561;AL110124;AL525852;AMYH01011398;AY450394;BC010848;BC018736;BC065817;BP310992;BQ030316;CH471063;CN480518;DB206952;DB454965;NM_001100422;NM_001100423;NM_001100424;NM_015535 AAG22487;AAH18736;AAR21087;AAX88978;AAY24307;BAA92065;BAF83185;BAG61258;BAG61879;CAB53658;CAL37655;EAW70197;EAW70198;EAW70199;EAW70200;EAW70201;NP_001093892;NP_001093893;NP_001093894;NP_056350;Q9NUQ6 Hs.120323 1644574;1651058;1716685;1734944;1734964;1753081;1755601;1772398;1784310;2122281;2148534;2172524;2176696;5021228;5022578;5022651 D11S2921;D1S1423;D2S1703E;D2S1714E;G28105;GDB:312794;RH121601;RH18299;RH69552;SHGC-142456;SHGC-35963;SHGC-52426;SHGC-57959;SHGC-68520;SHGC-79711;STS-AA010495 DKFZp564A2416;DNAPTP6;SGNP DNA polymerase transactivated protein 6;DNA polymerase-transactivated protein 6;OTTHUMP00000206197;OTTHUMP00000206209;OTTHUMP00000206210;OTTHUMP00000206211;OTTHUMP00000206212;OTTHUMP00000206214;OTTHUMP00000206215;OTTHUMP00000206290;OTTHUMP00000206401;SPATS2-like protein;stress granule and nucleolar protein protein-coding 24574 10916 613817 VALIDATED 1606531 SPC25 SPC25, NDC80 kinetochore complex component This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008] 2 2 2 q31.1 163352703 163372246 - 169435647 169455190 - 169727401 169746944 - 6480464 14699129;15961401;15815621;15489334;14738735;12477932;9585408;15371340;17207965;22939629;20360068;21139048;21890473;22371557;22863883;22678362;23000965;22505724 57405 C9JW94;Q9HBM1 ABBA01004958;ABBA01004959;AC069137;AC208170;AF225416;AK291093;AMYH01011242;AY456388;BC022255;CH471058;CR457197;NM_020675 AAG09718;AAH22255;AAR88652;AAY24098;ADQ32143;BAF83782;CAG33478;EAX11288;EAX11289;EAX11290;NP_065726;Q9HBM1 Hs.421956 AD024;MGC22228;SPBC25;hSpc25 2600017H08Rik;OTTHUMP00000163044;SPC25, NDC80 kinetochore complex component, homolog;kinetochore protein Spc25;spindle pole body component 25 homolog APPROVED protein-coding ENSG00000152253 24031 15465 609395 REVIEWED 1604521 SPC24 SPC24, NDC80 kinetochore complex component 19 19 19 p13.2 11152645 11161296 - 11118831 11127484 - 11257831 11266484 - 6480464 15961401;16565220;15964272;15489334;14738735;14702039;14699129;12477932;15371340;15824131;21963094;21163940;21832049;22863883;22939629;23383273;20360068;21139048;21890473;21906983;23505323;22371557;22505724 147841 K7EJH0;K7EJV2;K7EMX1;K7ERQ7;K7ESQ2;Q8NBT2 ABBA01029869;ABBA01029870;AC011485;AK075287;AK303157;AK303266;AMYH01009483;AY456387;BC105037;BC105039;CH471106;CQ784019;NM_182513 AAI05038;AAI05040;AAR88651;BAC11523;BAG64259;BAG64348;CAF86972;EAW84174;NP_872319;Q8NBT2 Hs.381225 2119188;5014051;5015619;5015961;5020740;5022578;5022651;5037552 D11S2921;D11S3114;D15S1477;D1S1423;D8S2278;D8S2279;L17809;SHGC-58054 FLJ90806;SPBC24 SPC24, NDC80 kinetochore complex component, homolog;hSpc24;kinetochore protein Spc24;spindle pole body component 24 homolog APPROVED protein-coding 26913 15464 609394 PROVISIONAL 1345167 SPDYE1 speedy/RINGO cell cycle regulator family member E1 This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008] 7 7 p13 44007014 44016248 + 44040489 44049723 + 6480464 15574121;12073013 285955 A6NJR5;Q8NFV5 ABBA01005871;ABBA01058208;ABBA01058209;ABBA01058210;AC004951;AF412027;AL137266;AMYH01017207;NM_175064 A6NJR5;AAI67785;AAM62309;CAB70665;NP_778234;Q8NFV5 Hs.645483 DKFZp434A1014;Ringo1;SPDYE;WBSCR19 OTTHUMP00000159236;Speedy E;Williams Beuren syndrome chromosome region 19 protein;putative WBSCR19-like protein 6;speedy homolog E1;speedy protein E1;williams-Beuren syndrome chromosomal region 19 protein APPROVED protein-coding ENSG00000136206 16408 11677 VALIDATED 1346470 SPCS1 signal peptidase complex subunit 1 homolog (S. cerevisiae) 3 3 3 p21.1 52718568 52720909 + 52714897 52717249 + 52739857 52742198 + 724719;1580863;6480464 8632014 15489334;14702039;12477932;11042152;21139048;21890473;21906983;21926972;22505724 28972 C9JBL1;Q9Y6A9 ABBA01024499;AC104446;AF092138;AK027426;AMYH01013188;AX775783;AX775785;AX775787;AX775833;BC000884;BG724036;BI826431;BQ423345;BU070128;CA309210;CH471055;DB459917;L38852;NM_014041 AAD40380;AAH00884;AAL31361;BAG51320;CAE11591;CAE11592;CAE11593;CAE11616;EAW65257;NP_054760;Q9Y6A9 Hs.11125 1662261;5014484 D3S4207;SGC30921 HSPC033;SPC1;SPC12;YJR010C-A OTTHUMP00000206958;OTTHUMP00000206959;SPase 12 kDa subunit;microsomal signal peptidase 12 kDa subunit;signal peptidase 12kDa;signal peptidase complex subunit 1 protein-coding ENSG00000114902 23401 610358 VALIDATED 1345346 SPCS2 signal peptidase complex subunit 2 homolog (S. cerevisiae) 11 11 11 q13.4 71966858 71996651 + 74337981 74366427 + 74660292 74690076 + 1580863;6480464 15489334;15342556;12477932;7788527;16169070;17207965;20029029;22939629;22318606;21139048;21890473;21906983;21987572;23142642;22190034;22505724;22645275 9789 E9PI68;E9PL01;E9PRB9;H0YE04;Q15005 AA921960;ABBA01017476;AK293128;AMYH01003813;AP001992;BC008063;BC064957;BC067821;BC070276;BC082231;BC106066;BP338843;CH471076;CQ834280;CQ834314;CR542233;CR542243;D14658;NM_014752 AAH08063;AAH64957;AAH70276;AAH82231;AAI06067;ADQ32607;BAA03492;BAG56680;CAG47029;CAG47039;CAH05355;CAH05372;EAW74952;NP_055567;Q15005 Hs.282700;Hs.719927 1667645;1699206;1738083;1748511;2126281;5020321;5107946 D11S1036;D11S3708;D8S1913;RH103184;RH25329;SGC30257;SHGC-32778 KIAA0102;MGC117366 OTTHUMP00000230031;OTTHUMP00000230032;OTTHUMP00000230034;SPase 25 kDa subunit;microsomal signal peptidase 25 kDa subunit;signal peptidase 25kDa subunit;signal peptidase complex subunit 2 protein-coding ENSG00000118363 28962 15435 VALIDATED 1606089 SPDYC speedy/RINGO cell cycle regulator family member C 11 11 11 q13.1 62264025 62267006 + 64694283 64697264 + 64937707 64940688 + 6480464 15611625;18802405;12477932;20605920 387778 Q5MJ68 ABBA01024133;AMYH01003716;AP003068;AY820305;BC137244;BC137246;BC144548;CH471076;NM_001008778 AAI37245;AAI37247;AAI44549;AAW30396;EAW74363;NP_001008778;Q5MJ68 Hs.450642 RINGOC;Ringo2 OTTHUMP00000230443;RINGO C;hSpy/Ringo C;rapid inducer of G2/M progression in oocytes C;speedy C;speedy homolog C;speedy protein C APPROVED protein-coding ENSG00000204710 32681 17367 614030 PROVISIONAL 7243324 SPDYE2B speedy/RINGO cell cycle regulator family member E2B 7 q22.1 102290772 102301847 + 12853948 100310812 A6NHP3 AC105052;NM_001166339 A6NHP3;NP_001159811 Hs.433879 5020968 D7S3265 SPDYE2L WBSCR19-like protein 3;putative WBSCR19-like protein 3;putative speedy protein E2-like protein;speedy protein E2B protein-coding ENSG00000173678 48334 VALIDATED 2303882 SPDYE5 speedy/RINGO cell cycle regulator family member E5 7 7 7 q11.23 60126265 60135618 + 74962235 74971564 + 75124299 75133628 + 12853948 442590 A6NIY4 AC018720;AC211429;AMYH01017552;NM_001099435 A6NIY4;NP_001092905 Hs.632298 5112255 RH102772 Williams Beuren syndrome chromosome region 19-like;putative Speedy protein E5;speedy homolog E5 APPROVED protein-coding 35464 VALIDATED 2303825 SPDYE6 speedy/RINGO cell cycle regulator family member E6 7 7 q22.1 101775262 101785196 - 101986192 101996889 - 12853948;11181995 729597 P0CI01 AC005088;AC091390;AMYH01017767;AMYH01017768;CH471197;NM_001146210 EAW50235;EAW50236;EAW50237;NP_001139682;P0CI01 Hs.656428 5020968;5112255 D7S3265;RH102772 putative speedy protein E6;speedy homolog E6 APPROVED protein-coding ENSG00000166667 35465 INFERRED 1318473 SPDEF SAM pointed domain containing ETS transcription factor The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 6 6 p21.3 34613558 34632069 - 34505579 34524110 - 1580863;2298935;6480464 18567002 10625666;19203193;18579687;17971898;17521701;17347682;17197890;16357167;16237704;15882048;15523673;15489334;14719083;14574404;12907642;12700667;12477932;11809674;10675039;6857767;21275604;18846421;19505923;19786015;19830706;20139077;20211142;20550708;21656828;21764212;23012424;21446014;22378487;18816836;23376423;22761428;23449978 25803 O95238 AB031549;ABBA01038192;AF071538;AK301543;AMYH01016258;AMYH01016259;BC021299;BX255971;BX255972;BX255973;CH471081;NM_001252294;NM_012391 AAC95296;AAH21299;ABZ92226;ACE87089;ACE87768;BAA89543;BAG63040;CAI23605;EAX03788;NP_001239223;NP_036523;O95238 Hs.485158 1776712 RH37412 PDEF;RP11-375E1__A.3;bA375E1.3 OTTHUMP00000016234;SAM pointed domain-containing Ets transcription factor;prostate epithelium-specific Ets transcription factor;prostate-derived Ets factor;prostate-specific Ets APPROVED protein-coding ENSG00000124664 17257 12176 608144 REVIEWED 2303832 SPDYE2 speedy/RINGO cell cycle regulator family member E2 7 7 7 q22.1 96999227 97008710 - 101983352 101989855 + 102191679 102202757 + 12477932;10737800;22763696 441273 I6XC90;Q495Y8 ABBA01011289;ABBA01011290;AC004084;AC093668;AC105052;AK302217;BC100973;BF809327;DR731150;JQ023160;NM_001031618 AAI00974;AFN41358;BAG63573;NP_001026789;Q495Y8 Hs.656428 5020968 D7S3265 MGC119295;SPDYB2-L1 OTTHUMP00000197246;OTTHUMP00000217365;Speedy B2-like 1;putative Speedy protein E2;speedy homolog E2;speedy protein E2 APPROVED protein-coding ENSG00000205238 33841 VALIDATED 7207164 SPDYE9P speedy/RINGO cell cycle regulator family member E9, pseudogene 7 q11.23 76654003 76660096 - 100132581 AC007000;AMYH01017552;XM_001722903;XM_002344367;XM_003960406 XP_001722955;XP_002344408;XP_003960455 5127400 RH71228 speedy homolog E9 (Xenopus laevis), pseudogene APPROVED protein-coding 45034 MODEL 2303837 SPDYE4 speedy/RINGO cell cycle regulator family member E4 17 17 17 p13.1 8687309 8692763 - 8597181 8602556 - 8656424 8661877 - 12477932 388333 A6NLX3;J3KT05;J3QR45 ABBA01054925;AC009451;AMYH01008091;BC146949;BC146966;BC171861;NM_001128076 A6NLX3;AAI46950;AAI46967;NP_001121548 Hs.368429 putative Speedy protein E4;speedy homolog E4;speedy protein E4 APPROVED protein-coding ENSG00000183318 35463 PROVISIONAL 1352707 SPDYA speedy/RINGO cell cycle regulator family member A 2 2 p23.2 28887221 28926980 + 29033700 29073476 + 6480464 11980914;12839962;19106603;17671428;16951407;15815621;15611625;15489334;14702039;12972555;12477932;19622356;19686732;22447439;22492278 245711 E7EPV1;H7C0J1;Q5MJ70 AA625975;ABBA01045239;ABBA01045240;AC097720;AC097724;AMYH01010205;AMYH01010206;AMYH01010207;AY820303;AY820304;BC047224;BC093005;CH471053;NM_001008779;NM_001142634;NM_182756 AAH93005;AAW30394;AAW30395;AAY24014;AAY24125;EAX00526;NP_001008779;NP_001136106;NP_877433;Q5MJ70 Hs.511956 1665822;1732401;1750183 D2S1237;SHGC-112267;WI-15096 MGC110856;MGC57218;RINGO3;RINGOA;SPDY1;SPY1 OTTHUMP00000082662;OTTHUMP00000082663;RINGO A;hSpy/Ringo A;rapid inducer of G2/M progression in oocytes A;speedy homolog 1 (drosophila);speedy homolog A;speedy homolog A (Drosophila);speedy protein A;speedy-1 APPROVED protein-coding ENSG00000163806 30613 18095 614029 VALIDATED 1344029 SPEER1 spermatogenesis associated glutamate-rich protein 1 442872 22996 1344375 SPEER2 spermatogenesis associated glutamate-rich protein 2 442873 23001 1347819 SPEER3 spermatogenesis associated glutamate-rich protein 3 442874 23002 1343609 SPEER4A spermatogenesis associated glutamate-rich protein 4A 442875 23003 1347172 SPEER4B spermatogenesis associated glutamate-rich protein 4B 442876 23004 1350780 SPEER4C spermatogenesis associated glutamate-rich protein 4C 442877 23005 1354004 SPEER4D spermatogenesis associated glutamate-rich protein 4D 442878 23006 1345326 SPEER4E spermatogenesis associated glutamate-rich protein 4E 442879 23007 1342954 SPEER4F spermatogenesis associated glutamate-rich protein 4F 442880 23008 1352079 SPEER5 spermatogenesis associated glutamate-rich protein 5 442881 23009 1345693 SPEER6 spermatogenesis associated glutamate-rich protein 6 442882 23010 1349168 SPEER7 spermatogenesis associated glutamate-rich protein 7 442883 23011 1352557 SPEER8 spermatogenesis associated glutamate-rich protein 8 442884 23012 1343688 SPEER9 spermatogenesis associated glutamate-rich protein 9 442885 23013 2303833 SPDYE7P speedy/RINGO cell cycle regulator family member E7, pseudogene 7 7 q11.23 71971254 71977591 - 72333318 72339655 - 12477932 441251 Q495Y7 AC005488;AC211469;AMYH01017531;BC100974;NR_003666 Q495Y7 Hs.591819 1335033 D10S1151 MGC119297 APPROVED pseudo 35466 VALIDATED 2303884 SPDYE8P speedy/RINGO cell cycle regulator family member E8, pseudogene 7 7 q11.23 72128196 72138245 - 72490260 72500309 - 12477932 389517 AC005488;AC211476;AMYH01017531;BC045636;BC068610;BC110795;NR_003664 Hs.571275;Hs.592259 5020968;5127400 D7S3265;RH71228 MGC131642;MGC48646 APPROVED pseudo ENSG00000198305 33771 VALIDATED 1605479 SPDYE3 speedy/RINGO cell cycle regulator family member E3 7 7 7 q22.1 94640656 94649590 + 99750000 99756695 + 99905325 99919819 + 15489334;12853948;12690205;12477932 441272 A6NKU9 AACC02000084;ABBA01013219;ABBA01013220;AC005071;AMYH01017733;BC056606;BC100972;CH236956;NM_001004351 A6NKU9;AAH56606;AAI00973;EAL23843;NP_001004351 Hs.703626 5113775;5127400 RH46934;RH71228 MGC119294;MGC57359 OTTHUMP00000208044;Putative WBSCR19-like protein 7;putative Speedy protein E3;speedy homolog E3;speedy protein E3 APPROVED protein-coding ENSG00000214300 35462 14693 VALIDATED 1606284 SPDL1 spindle apparatus coiled-coil protein 1 5 5 5 q35.1 165042230 165063368 + 168943216 168964360 + 169010638 169031782 + 6480464 15489334;15342556;14702039;12477932;16169070;22558309;19468067;20439434;20427577;22863883;22939629;21139048;23382074 54908 D6R936;D6RC83;D6RCL1;D6RDK5;D6REZ1;D6RIB8;D6RIF7;H0YBG5;H7C5V2;Q96EA4 ABBA01044108;AC008680;AF269167;AK000371;AK074227;AK098009;AK304623;AK308835;AK310442;AMYH01015800;AY517557;BC012568;BP295943;BU166207;CA417197;CD653505;CH471062;DC379275;NM_017785 AAG01408;AAH12568;AAT44530;ADZ15559;BAA91119;BAB85022;BAG65405;EAW61495;EAW61496;NP_060255;Q96EA4 Hs.368710 1748893;2116745;2144091 RH48014;RH78613;SHGC-110560 CCDC99;FLJ20364;FLJ40690 OTTHUMP00000160995;OTTHUMP00000223150;Spindly;arsenite-related gene 1 protein;coiled-coil domain containing 99;coiled-coil domain-containing protein 99;hSpindly;protein Spindly;rhabdomyosarcoma antigen MU-RMS-40.4A;rrhabdomyosarcoma antigen protein MU-RMS-40.4A;spindle apparatus coiled-coil domain-containing protein 1;spindly homolog APPROVED protein-coding ENSG00000040275 26010 08623 VALIDATED 1350979 SPEN spen homolog, transcriptional regulator (Drosophila) This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008] 1 1 p36 16046946 16139537 + 16174359 16266950 + 1580863;6480464;6484113 16129689;18332109;17474147;17234755;17081983;16964243;16713569;16710414;16583136;15824732;15302935;15062576;14702039;12897056;12374742;11867749;11331609;10451362;10231032;1020939;20460484;19454010;18029348;22939629;21637295;15604093;16287852;19596686;21139048;21890473;21906983;22586326 23013 F6WRY4;H0Y5U7;Q96T58 AB023146;ABBA01004687;ABBA01004688;ABBA01004689;ABBA01004690;AF085964;AF356524;AK000882;AK022949;AK092332;AK127577;AL034555;AL096858;AL450998;AMYH01000275;CH471167;HI573954;NM_015001 AAK52750;BAA76773;BAA91405;BAB14324;CAB51072;CBX47466;EAW51756;NP_055816;Q96T58 Hs.558463 1662236;1664916;1664918;1667743;1677862;1684264;1707208;1735458;1855862;2119016;2166127;5107550 A001T05;AL009746;D1S1864E;D1S1975E;G19614;RH45538;RH45700;RH48282;RH80734;SHGC-74266;SHGC-74272;SHGC-79191 HIAA0929;KIAA0929;MINT;RBM15C;RP1-134O19.1;SHARP Msx2 interacting nuclear target (MINT) homolog;OTTHUMP00000010982;SMART/HDAC1 associated repressor protein;SMART/HDAC1-associated repressor protein;msx2-interacting protein;nuclear receptor transcription cofactor APPROVED protein-coding ENSG00000065526 17575 10230 613484 REVIEWED 1605340 SPEF2 sperm flagellar 2 5 5 5 p13.2 35500093 35700401 + 35653746 35850470 + 35617989 35814713 + 6480464 19240061;17610085;16549801;16344560;14702039;12477932;11214970;8125298;7566098;20379614;21244703 79925 D6RAJ9;D6RD80;D6REZ4;D6RGZ5;H0Y8H6;H0Y906;H0Y989;H0YAC0;Q9C093 AA328954;AB051557;ABBA01024153;ABBA01024154;ABBA01024155;ABBA01024156;ABBA01039253;ABBA01039254;ABBA01039255;AC025448;AC112204;AC116333;AC137810;AC142209;AK026817;AK027230;AK058124;AK094564;AK097547;AK225586;AK225607;AL832607;AMYH01015024;BC016773;BC067761;BC110984;BQ576090;BX648691;CB955825;CH471119;DA295300;EF553528;NM_024867;NM_144722 AAI10985;AAI56529;AAI72520;BAB15563;BAB15700;BAB21861;BAB71674;EAW55920;EAW55921;EAW55922;EAW55923;NP_079143;NP_653323;Q9C093 Hs.298863 1335428;1725119;1747653;1780050;2110897;2114500;7183702;7186232 D5S395;D5S521E;G65480;RH118857;SGC38369;SHGC-154301 CT122;FLJ23164;FLJ23577;FLJ25395;KIAA1770;KPL2;MGC102842 KPL2 protein;OTTHUMP00000161739;OTTHUMP00000221228;OTTHUMP00000221231;cancer/testis antigen 122;sperm flagellar protein 2 protein-coding ENSG00000152582 26293 11181 610172 VALIDATED 1606479 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 17 17 17 p11.2 17404264 17631972 + 19930927 20158660 + 19912649 20218072 + 6480464 15489334;18763323;17081983;15602574;15342556;15146197;15087372;14702039;12477932;16344560;21311098;20379614;16751776;20237420;20360068;21139048;21906983;22170762;21963094;23251661;23398456 92521 B4DW07;B4E2A4;F5H2Z1;J3KRB9;J3KRD8;J3KRN9;J3KS18;J3KSG2;J3KTH6;J3KTI9;J3QKL1;J3QQM0;J3QRQ9;J3QS22;J3QSD6;Q5M773 AB041533;ABBA01054582;ABBA01054583;ABBA01054584;ABBA01054585;ABBA01054586;ABBA01054587;ABBA01054588;ABBA01054589;ABBA01054590;AC004702;AC005730;AC007963;AC008088;AI950511;AK295093;AK295811;AK298601;AK301318;AK304186;AK314341;AMYH01008239;AY816326;AY816327;AY816328;AY816329;BC021123;BC033618;BC037532;BC050058;BK005598;BP287096;BP309862;CA427363;CH471212;CN267630;CN361555;DA058164;DC336225;NG_029768;NM_001033553;NM_001033554;NM_001033555;NM_001243438;NM_001243439;NM_152904 AAH21123;AAH33618;AAH50058;AAW29999;AAW30000;AAW30001;AAW30002;BAB16440;BAG58132;BAG58629;BAG60786;BAG62869;BAG65066;DAA05629;DAA05630;DAA05631;DAA05632;EAW50914;EAW50915;EAW50916;EAW50917;EAW50918;EAW50919;EAW50920;EAW50921;NP_001028725;NP_001028726;NP_001028727;NP_001230367;NP_001230368;NP_690868;Q5M775 Hs.431045 1676710;1678717;1680389;1681702;1682858;1693648;1719207;1783458;1849918;1853451;1855468;1855854;2135508;2141249;5093378;5109281 A009N28;D1S1425;G32683;RH123322;RH26729;RH27079;RH64975;RH64978;RH65077;RH71161;SGC31181;SGC33556;SGC33585;SHGC-106909;SHGC-58566;STS-R89252 CYTSB;FLJ36955;HCMOGT-1;HCMOGT1;NSP NSP5;OTTHUMP00000065842;OTTHUMP00000065843;OTTHUMP00000065844;OTTHUMP00000065845;cytokinesis and spindle organization B;cytospin B;cytospin-B;nuclear structure protein 5;sperm antigen HCMOGT 1;sperm antigen HCMOGT-1;sperm antigen with calponin homology and coiled coil domains 1;sperm antigen with calponin homology and coiled-coil domains 1;sperm antigen with calponin-like and coiled coil domains 1;structure protein NSP5a3a;structure protein NSP5a3b;structure protein NSP5b3a;structure protein NSP5b3b APPROVED protein-coding ENSG00000128487 30615 12301 608793 REVIEWED 1603682 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013] 22 22 22 q11.23 8467175 8613432 + 22996866 23143221 + 24666790 24813708 + 6480464 17081983;14702039;12477932;10508479;9205841;20936779;21703590;16344560;17289029;21139048;21890473;20473970;20682791;22238572;23000965;23314748;23398456;22505724;15146197;3398011;8889548 23384 B2RMV2;C9J8U1;C9JLY8;Q69YQ0 AA773104;AB002374;ABBA01055135;ABBA01055136;AK025531;AK097129;AK301482;AL832425;AMYH01012663;AMYH01012664;AMYH01012665;AP000354;AP000355;AY884293;BC005093;BC013085;BC021132;BC041571;BC068611;BC136471;BM126792;BM556934;BM720120;BQ929263;CH471095;CN334545;DA385554;HY105216;NG_031915;NM_001145468;NM_001254732;NM_001254733;NM_015330 AAI36472;AAX84184;BAA21574;BAH13494;CAH10609;EAW59656;EAW59657;NP_001138940;NP_001241661;NP_001241662;NP_056145;Q69YQ0 Hs.474384 1652497;1675259;1685650;1770147;1784514;1784522;2125416;2167249;5017446 AL031645;ATTT019M;D22S1004E;RH46355;RH93892;SHGC-170333;SHGC-170349;SHGC-60202;STS-W88747 CYTSA;KIAA0376;OBLFC1 OTTHUMP00000198459;SPECC1-like protein;cytokinesis and spindle organization A;cytospin A;cytospin-A;renal carcinoma antigen NY-REN-22;sperm antigen with calponin homology and coiled-coil domains 1-like APPROVED protein-coding ENSG00000100014 29022 11080 600251;614140 REVIEWED 1352500 SPG12 spastic paraplegia 12 (autosomal dominant) 7240710 10677333 23675 11227 604805 1343240 SPG13 spastic paraplegia 13 (autosomal dominant) 7240710 10677329 56733 11228 605280;612233 1322632 SPEF1 sperm flagellar 1 20 20 20 pter-q11.23 3820021 3823972 - 3706151 3710102 - 3758151 3762102 - 6480464 16344560;16206169;15979255;15489334;12477932;11780052;11230166;16189514 25876 Q9Y4P9 ABBA01053831;AI925267;AK313766;AL040853;AL080154;AL109804;AMYH01011679;BC022476;BI520334;CH471133;DB030684;DB033051;EF560745;NM_015417 AAH22476;ABQ59055;ADZ15948;BAG36504;CAB45745;EAX10503;EAX10504;EAX10505;NP_056232;Q9Y4P9 Hs.72620 2180450;2191213 MARC_16301-16302:1017419382:3;RH48567 C20orf28;CLAMP;DKFZp434I114;SPEF1A OTTHUMP00000030123;calponin-homology and microtubule-associated protein;sperm flagellar protein 1 protein-coding ENSG00000101222 15874 09839 610674 VALIDATED 1351137 SPG14 spastic paraplegia 14 (autosomal recessive) 7240710 10877981 57309 1340874;7186530 D3S1601 13730 1353805 SPG15 spastic paraplegia 15 (complicated, autosomal recessive) 7240710 207106 11229 270700 1353816 SPG16 spastic paraplegia 16 (complicated, X-linked recessive) 7240710 10982473;10982474 57760 1702938;1702942 DXS135;DXS981 14260 1344469 SPG17 spastic paraplegia 17 (Silver syndrome) 7240710 11389484 64408 13624 269700;270685;600794 1347039 SPG18 spastic paraplegia 18 (autosomal dominant) 7240710 140906 18009 611225 1349854 SPG19 spastic paraplegia 19 (autosomal dominant) 7240710 140907 1336577;1337150 D9S1776;D9S1826 16706 5131323 SPG20OS SPG20 opposite strand 13 13 q13.3 17987761 18011069 + 36920568 36943872 + 12107413 100507135 P0CW21 ABBA01021358;ABBA01021359;AL139377;AMYH01005038;AW292824;BF732820;CD674079;CH471075;NG_011559;NR_045180;NR_045181 EAX08564;P0CW21 Hs.631781 C13orf43;KIAA0610 OTTHUMP00000195706;SPG20 opposite strand;chromosome 13 open reading frame 43 APPROVED miscrna ENSG00000120664 39933 VALIDATED 1602954 SPEM1 spermatid maturation 1 17 17 17 p13.1 7349564 7350836 + 7264403 7265675 + 7323679 7324951 + 6480464 17426145;14702039;12477932;20558241;21184802 374768 Q8N4L4 ABBA01054865;AC113189;AK097400;AMYH01008082;BC033882;CS111500;NM_199339 AAH33882;BAC05034;CAJ09938;NP_955371;Q8N4L4 Hs.710599 1740195;2169169;2170128 A005P18;D17S1783;RH15991 C17orf83;FLJ40081 chromosome 17 open reading frame 83;spermatid maturation protein 1 protein-coding ENSG00000181323 32429 14188 615116 PROVISIONAL 1344938 SPG23 spastic paraplegia 23 (autosomal recessive) 7240710 14681889 353293 21340 1350179 SPG24 spastic paraplegia 24 (autosomal recessive) 7240710 12499481 338090 1339674;7186363 D13S270 22993 1343849 SPG25 spastic paraplegia 25 (autosomal recessive, with disc herniation) 7240710 12070243 387583 1298112;1340789 D6S1699;D6S314 25855 1349141 SPG27 spastic paraplegia 27 (autosomal recessive) 7240710 414886 26071 1354358 SPG3B spastic paraplegia 3B 7825576 6682 11232 1343917 SPG5A spastic paraplegia 5A (autosomal recessive) 7240710 6684 11234 270800;613812 1346296 SPG5B spastic paraplegia 5B (autosomal recessive) 7240710 6685 11235 734132 SPEG SPEG complex locus This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010] 2 2 2 q35 214069692 214128346 + 220007944 220066598 + 220299700 220358354 + 6480464 8663449;16545539;16354304;15815621;15784173;15489334;15185077;14702039;12477932;10718198;10318857;19913121;20628086;16344560;8889548;21832049;22623531 10290 B9A038;B9ZVR7;C9J8D8;C9JWU5;F8WCA7;G5E9J7;H0Y3W0;H7BZM6;H7C3Y5;Q9P2P9 AB037718;ABBA01023840;ABBA01023841;AC053503;AK055387;AK098307;AK126500;AK128689;AK129604;AK289531;AL535839;AMYH01011508;AMYH01011509;AY603755;BC006346;BM677138;CH471063;CR542201;DA063220;DQ395348;NM_001173476;NM_005876;U57099 AAC50599;AAH06346;AAT80901;AAY15052;ABD61734;BAA92535;BAC86568;BAF82220;CAG46998;EAW70742;EAW70743;EAW70744;EAW70745;EAW70746;EAW70747;EAW70748;EAW70749;EAW70750;EAW70751;NP_001166947;NP_005867;Q15772 Hs.21639 1663350;1665042;1665044;1734844;1799238;1799480;1799776;1800720;1801614;1802340;1802650;1803234;1803236;1803490;1803742;1804100;1804588;1805524;1806046;1806166;1806564;1807406;1807480;1807676;1807998;1809940;1811286;1811912;1812490;1813772;1813774;1813858;1814028;1814174;1814242;1816170;1817192;1818408;1818464;1818982;1821028;1822626;1822628;1822690;1823910;1824690;1824692;1825174;1825642;1825720;1826046;1827198;1827276;1827446;1827634;1827774;1828842;1828844;1828938;1829036;1829866;1829980;1831494;1832330;1836078;1836272;1837328;1837984;1838236;1839442;1842440;1963882;1963884;1963886;1963888;1963890;1963892;1963894;1963896;1963898;1963900;1963902;1963904;1963906;1963908;1963910;1963912;1963914;1963916;1963918;1963920;1963922;1963924;1963926;1963928;1963930;1963932;1963934;1963936;1963938;1963940;1963942;1963944;1963946;1963948;1963950;1963952;1963954;1963956;1963958;1963960;1963962;1963964;1963966;1963968;1963970;1963972;1963974;1963976;1963978;1963980;1963982;1963984;1963986;1963988;1963990;1963992;1963994;1963996;1963998;1964000;1964002;1964004;1964006;1964008;1964010;1964012;1964014;1964016;1964018;1964020;1964022;1964024;1964026;1964028;1964030;1964032;1964034;1964036;1964038;1964040;1964042;1964044;1964046;1964048;1964050;1964052;1964054;1964056;1964058;1964060;1964062;1964064;1964066;1964068;1964070;1964072;1964074;1964076;1964078;1964080;1964082;1964084;1964086;1964088;1964090;1964092;1964094;1964096;1964098;1964100;1964102;1964104;1964106;1964108;1964110;1964112;1964114;1964116;1964118;1964120;1964122;1964124;1964126;1964128;1964130;1964132;1964134;1964136;1964138;1964140;1964142;1964144;1964146;1964148;1964150;1964152;1964154;1964156;1964158;1964160;1964162;1964164;1964166;1964168;1964170;1964172;1964174;1964176;1964178;1964180;1964182;1964184;1964186;1964188;1964190;1964192;1964194;1964196;1964198;1964200;1964202;1964204;1964206;1964208;1964210;1964212;1964214;1964216;1964218;1964220;1964222;1964224;1964226;1964228;1964230;1964232;1964234;1964236;1964238;1964240;1964242;1964244;1964246;1964248;1964250;1964252;1964254;1964256;1964258;1964260;1964262;1964264;1964266;1964268;1964270;1964272;1964274;1964276;1964278;1964280;1964282;1964284;1964286;1964288;1964290;1964292;1964294;1964296;1964298;1964300;1964302;1964304;1964306;1964308;1964310;1964312;1964314;1964316;1964318;1964320;1964322;1964324;1964326;1964328;1964330;1964332;1964334;1964336;1964338;1964340;1964342;1964344;1964346;1964348;1964350;1964352;1964354;1964356;1964358;1964360;1964362;1964364;1964366;1964368;1964370;1964372;1964374;1964376;1964378;1964380;1964382;1964384;1964386;1964388;1964390;1964392;1964394;1964396;1964398;1964400;1964402;1964404;2108693;2126058;2130065;2213896;2213898;2213900;2213902;2213904;2213906;2213908;2213910;2213912;2213914;2213916;2213918;2213920;2213922;2213924;2213926;2213928;2213930;2213932;2213934;2213936;2213938;2213940;2213942;2213944;2213946;2213948;2213950;2213952;2213954;2213956;2213958;2213960;2213962;2213964;2213966;2213968;2213970;2213972;2213974;2213976;2213978;5022578 A005A48;APEG1_9084;D1S1423;D2S1595E;ECD00467;ECD00591;ECD00742;ECD01221;ECD01685;ECD02054;ECD02212;ECD02510;ECD02511;ECD02643;ECD02778;ECD02968;ECD03226;ECD03710;ECD03976;ECD04037;ECD04239;ECD04674;ECD04712;ECD04810;ECD04977;ECD05962;ECD06641;ECD06960;ECD07252;ECD07909;ECD07910;ECD07955;ECD08041;ECD08116;ECD08150;ECD09125;ECD09646;ECD10262;ECD10293;ECD10556;ECD11590;ECD12401;ECD12402;ECD12433;ECD13049;ECD13443;ECD13444;ECD13688;ECD13929;ECD13968;ECD14132;ECD14714;ECD14753;ECD14839;ECD14937;ECD15009;ECD15548;ECD15549;ECD15596;ECD15645;ECD16066;ECD16123;ECD16884;ECD17304;ECD19200;ECD19297;ECD19831;ECD20163;ECD20290;ECD20903;ECD22423;G20234;REN52815;REN52816;REN52817;REN52818;REN52819;REN52820;REN52821;REN52822;REN52823;REN52824;REN52825;REN52826;REN52827;REN52828;REN52829;REN52830;REN52831;REN52832;REN52833;REN52834;REN52835;REN52836;REN52837;REN52838;REN52839;REN52840;REN52841;REN52842;REN52843;REN52844;REN52845;REN52846;REN52847;REN52848;REN52849;REN52850;REN52851;REN52852;REN52853;REN52854;REN52855;REN52856;REN52857;REN52858;REN52859;REN52860;REN52861;REN52862;REN52863;REN52864;REN52865;REN52866;REN52867;REN52868;REN52869;REN52870;REN52871;REN52872;REN52873;REN52874;REN52875;REN52876;REN52877;REN52878;REN52879;REN52880;REN52881;REN52882;REN52883;REN52884;REN52885;REN52886;REN52887;REN52888;REN52889;REN52890;REN52891;REN52892;REN52893;REN52894;REN52895;REN52896;REN52897;REN52898;REN52899;REN52900;REN52901;REN52902;REN52903;REN52904;REN52905;REN52906;REN52907;REN52908;REN52909;REN52910;REN52911;REN52912;REN52913;REN52914;REN52915;REN52916;REN52917;REN52918;REN52919;REN52920;REN52921;REN52922;REN52923;REN52924;REN52925;REN52926;REN52927;REN52928;REN52929;REN52930;REN52931;REN52932;REN52933;REN52934;REN52935;REN52936;REN52937;REN52938;REN52939;REN52940;REN52941;REN52942;REN52943;REN52944;REN52945;REN52946;REN52947;REN52948;REN52949;REN52950;REN52951;REN52952;REN52953;REN52954;REN52955;REN52956;REN52957;REN52958;REN52959;REN52960;REN52961;REN52962;REN52963;REN52964;REN52965;REN52966;REN52967;REN52968;REN52969;REN52970;REN52971;REN52972;REN52973;REN52974;REN52975;REN52976;REN52977;REN52978;REN52979;REN52980;REN52981;REN52982;REN52983;REN52984;REN52985;REN52986;REN52987;REN52988;REN52989;REN52990;REN52991;REN52992;REN52993;REN52994;REN52995;REN52996;REN52997;REN52998;REN52999;REN53000;REN53001;REN53002;REN53003;REN53004;REN53005;REN53006;REN53007;REN53008;REN53009;REN53010;REN53011;REN53012;REN53013;REN53014;REN53015;REN53016;REN53017;REN53018;REN53019;REN53020;REN53021;REN53022;REN53023;REN53024;REN53025;REN53026;REN53027;REN53028;REN53029;REN53030;REN53031;REN53032;REN53033;REN53034;REN53035;REN53036;REN53037;REN53038;REN53039;REN53040;REN53041;REN53042;REN53043;REN53044;REN53045;REN53046;REN53047;REN53048;REN53049;REN53050;REN53051;REN53052;REN53053;REN53054;REN53055;REN53056;REN53057;REN53058;REN53059;REN53060;REN53061;REN53062;REN53063;REN53064;REN53065;REN53066;REN53067;REN53068;REN53069;REN53070;REN53071;REN53072;REN53073;REN53074;REN53075;REN53076;SGC30668;STS-R40961;STS-U57099;stSG632986;stSG632988;stSG632989;stSG632990;stSG632991;stSG632992;stSG632995;stSG632996;stSG632997;stSG633000;stSG633001;stSG633002;stSG633003;stSG633004;stSG633005;stSG633006;stSG633007;stSG633008;stSG633009;stSG633010;stSG633011;stSG633012;stSG633013;stSG633014;stSG633015;stSG633016;stSG633017;stSG633018;stSG633019;stSG633020;stSG633023;stSG633024;stSG633025;stSG633026;stSG633028;stSG633030;stSG633031;stSG633032;stSG633033;stSG633034;stSG633035;stSG633036 APEG-1;APEG1;BPEG;KIAA1297;MGC12676;SPEGalpha;SPEGbeta APEG-1;OTTHUMP00000064868;OTTHUMP00000196351;OTTHUMP00000196352;OTTHUMP00000196353;aortic preferentially expressed gene 1;aortic preferentially expressed protein 1;nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury;striated muscle preferentially expressed protein kinase APPROVED protein-coding ENSG00000072195 16901 10653 VALIDATED 1352958 SPG8 spastic paraplegia 8 (autosomal dominant) 7240710 9973294 9195 11238 603563 1606126 SPERT spermatid associated 13 13 13 q14.13 27331110 27343357 + 45174447 45186694 + 46276446 46288693 + 6480464 12204287;16189514;14702039;12477932;20096028 220082 E9PLB4;Q8NA61 ABBA01050980;AK093129;AK292350;AL139320;AMYH01005092;BC027609;HC007310;HC044641;NM_152719 AAH27609;ADZ15925;BAC04067;BAF85039;CBH19460;CBH30650;NP_689932;Q8NA61 Hs.186363 2107451;2114084 AB070178;NURIT__7154 CBY2;FLJ35810;NURIT OTTHUMP00000018354;chibby homolog 2;novel leucine zipper testicular protein;protein chibby homolog 2;spermatid flower-like structure protein;spermatid-associated protein;testis specific leucine zipper protein nurit;testis-specific leucine zipper protein nurit protein-coding ENSG00000174015 30720 14856 PROVISIONAL 1349562 SPG9 spastic paraplegia 9 (autosomal dominant) 7240710 9973297 9193 11239 1349587 SPESP1 sperm equatorial segment protein 1 The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010] 15 15 15 q23 46111968 46128285 + 67009919 67026202 + 69222839 69239150 + 6480464 17978344;15489334;12975309;12773409;12477932;17207965 246777 Q6UW49 ABBA01038770;AC087639;AF275321;AMYH01006741;AY358983;BC017998;BG720873;BM564110;CH471082;NG_030464;NM_145658 AAH17998;AAM69364;AAQ89342;ADQ32233;EAW77829;NP_663633;Q6UW49 Hs.657932 2185493 STS-H15004 ESP;MGC24663;SP-ESP ESP;OTTHUMP00000164446;equatorial segment protein;glycosylated 38 kDa sperm protein C-7/8;sperm equatorial segment protein 1 APPROVED protein-coding ENSG00000258484 15570 15436 609399 REVIEWED 1603228 SPHAR S-phase response (cyclin related) 1 1 1 q42.13 202708447 202709569 + 227506752 227507874 + 229440129 229441251 + 6480464 7799938;16710414;12477932 10638 Q15513 ABBA01009819;AI400109;AL117350;AMYH01001808;BC070287;BC107681;DQ120096;NM_006542;X82554 AAH70287;AAZ15373;CAA57901;NP_006533;Q15513 Hs.296169 1767246;1796636;1849001;1850197;1850199;1856241;2106633;2134845 A003A03;A005L42;D1S2524;G20320;RAB4A_1449;RH70076;SHGC-12949;SPHAR__5294 MGC88280;RP4-803J11.4 OTTHUMP00000064907;S-phase response (cyclin-related);S-phase response protein;protein SPHAR protein-coding ENSG00000213029 16957 11597 VALIDATED 1347040 SPG11 spastic paraplegia 11 (autosomal recessive) The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] 15 15 q14 42642186 42743168 - 44854894 44955876 - 6480464;7240710 19224311;19196735;19105190;19084844;19040626;18835492;18717728;18663179;18439221;18408091;18361476;18337587;18332254;18079167;18067136;17717710;17322883;16699786;16344560;14702039;12477932;11347906;10408536;8206979;8125298;19087158;22696581;19194956;19513778;19917823;20110243;20379614;20669327;20390432;20301389;21035867;20971220;18029348;21545838;22154821;21963094;21139048;21440262;21890473;21906983;22237444;22505724 80208 C4B7M2;H0YK24;H0YKC1;H0YKY8;H0YLK0;H0YLK7;H0YLR8;H0YM73;H0YN34;H0YN96;Q8N270 AB058743;AB470308;AB470309;AB470310;AB470311;AB470312;ABBA01039198;ABBA01039199;ABBA01039200;ABBA01039201;ABBA01039202;ABBA01039203;AC009996;AK025092;AK057869;AK091176;AK094331;AK225186;AL834168;AMYH01006612;BC024161;BC047416;BC067798;BC094704;BC150640;BC153879;CH471082;DA926289;NG_008885;NM_001160227;NM_025137 AAH24161;AAH67798;AAH94704;AAI50641;AAI53880;BAB15065;BAB47469;BAC03600;BAC04333;BAH58758;BAH58759;BAH58760;CAH10686;EAW77272;EAW77273;NP_001153699;NP_079413;Q96JI7 Hs.656271;Hs.683876 1298310;1335583;1336480;1341689;1652397;1673139;1673955;1680585;2111226;2111236;2125767;2179547;7187979 D15S1007;D15S1012;D15S118;D15S1325;D15S482;D15S489;D15S971;RH15713;RH78726;RH79982;SGC33828;STS-T97010 DKFZp762B1512;FLJ21439;KIAA1840 OTTHUMP00000161846;colorectal carcinoma-associated protein;spastic paraplegia 11 protein;spatacsin APPROVED protein-coding ENSG00000104133 11226 07963 604360;610844 REVIEWED 1346404 SPHK1 sphingosine kinase 1 The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 17 17 q25.2 71892297 71895536 + 74380690 74383941 + 2311380;2311379;2311390;6480464;6484113;6907045 16319132;17316399;17265031 8889549;12393916;10863092;10947957;15623571;12441135;12847068;10751414;19240026;19162217;19017993;19116345;19074142;18980995;18922940;18852266;18849324;18824518;18644866;18426913;18401414;18362204;18263879;18261991;18199826;18192241;18178871;18058224;17822721;17641298;17599053;17519232;17482291;17388800;17114809;17064696;16623665;16571380;16529909;16516161;16507765;16316995;16243846;16194537;16038795;15855330;15749892;15710602;15693752;15632208;15585953;15342556;15302883;15265705;15191888;15052627;14988393;14742298;14702039;14575709;14532121;12477932;12444147;12124383;12080051;12077123;11915350;11777919;10802064;9726979;22322056;22450659;22460268;8125298;7698749;21464128;20519401;20661259;15193146;16888242;17124500;18718048;18775504;19238330;19633297;19657322;19706837;19782042;19815712;19830907;19854831;19914200;19956567;20053797;20104488;20237496;20634980;20520628;20846391;20926375;20404323;20386061;20606403;20838377;22961081;21209394;21075214;20889557;23166225;21075134;21304987;21625639;22733311;21575515;21936950;21392092;21756066;21418911;21769916;22227192;21672077;22331716;21139048;22016563;22155656;22315056;22684547;21940753;22322303;21988832;23359503;21696364;22422617;22781898;22833671 8877 K7EJ32;K7EMA4;Q53ZR5;Q9NYA1 ABBA01028746;AC090699;AF200328;AF238083;AF266756;AJ245504;AK022402;AK023393;AK095578;AK122781;AK225250;AK225258;AK292294;AK292614;AMYH01008643;AY278525;BC004112;BC008040;BC009419;BC014439;BC030553;BP304783;CH471099;DC384776;NM_001142601;NM_001142602;NM_021972;NM_182965 AAF73423;AAF73470;AAG01980;AAH04112;AAH08040;AAH09419;AAH14439;AAH30553;AAP35060;BAB14028;BAB14558;BAF84983;BAF85303;BAG53725;CAB92131;EAW89388;EAW89389;EAW89390;EAW89391;EAW89392;EAW89393;EAW89394;NP_001136073;NP_001136074;NP_068807;NP_892010;Q9NYA1 Hs.68061 2173287 RH47748 SPHK SK 1;SPK 1;sphingosine kinase 1 APPROVED protein-coding ENSG00000176170 11240 04768 603730 VALIDATED 1351182 SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. At least three different transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] 15 15 15 q21-q22 42133429 42160447 - 63042416 63069304 - 65255363 65282251 - 1580863;1556574;6480464;7240710 14564668 11113139;16189514;15489334;15342556;14702039;12477932;8125298;6024251;17207965;19184135;22939629;18029348;21139048;21906983;20368287;23000965;21205478;22505724 51324 H0YKB0;H0YKM6;H0YLD7;H0YLT5;H0YLW1;H0YMB7;H0YML6;H3BRR0;Q9NZD8 ABBA01038864;ABBA01038865;AC069368;AC103691;AF208861;AF212231;AI161152;AK123725;AK172849;AK225527;AK301362;AK312943;AMYH01006714;BC000244;BI552731;BI554234;BI771887;BP268459;BP268875;BX446863;CH471082;DB477175;NG_008992;NM_001127889;NM_001127890;NM_016630 AAF64275;AAH00244;AAK14917;ADQ31856;BAD18813;BAG62906;EAW77704;EAW77705;NP_001121361;NP_001121362;NP_057714;Q9NZD8 Hs.242458 2142058;2162261;2181095;5015619;5015961;5037552 D11S3114;D15S1477;D8S2279;RH46473;RH78128;WI-20800 ACP33;BM-019;GL010;MASPARDIN;MAST OTTHUMP00000164130;acid cluster protein 33;maspardin;spastic paraplegia 21 autosomal recessive Mast syndrome protein;spastic paraplegia 21 protein APPROVED protein-coding ENSG00000090487 20373 10492 248900;608181 REVIEWED 1342736 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. [provided by RefSeq, Jul 2008] 16 16 q24.3 88102306 88151675 + 89574805 89624174 + 1580863;6480464;7240710 11549317;9635427;18799786;18563470;18200586;17646629;17420921;16534102;16357941;16189514;15489334;14702039;14506940;12477932;10480368;9634528;9405655;8429914;8098008;1560826;16169070;22563492;19748354;19841671;20108356;20877624;20301286;22939629;22964162;23065789;21988832;14623864;21900206 6687 H3BMP1;H3BNE4;H3BTR8;H3BTY6;H3BUN3;J3KRF6;Q9UQ90 ABBA01014145;ABBA01014146;ABBA01014147;AC092123;AF034795;AF080525;AF090912;AK094627;AMYH01007931;BC007692;BC015411;BC035929;BC036104;BC052587;BC110530;BC110531;BI827568;CA447374;CH471184;D14075;NG_008082;NM_003119;NM_199367;S54769;X65784;Y16610 AAB25303;AAC02429;AAD28099;AAF24033;AAH35929;AAH36104;ACE87780;ACT64446;BAA03160;BAG52898;CAA46667;CAA76314;EAW66726;EAW66727;EAW66728;EAW66729;NP_003110;NP_955399;Q9UQ90 Hs.185597 1678997;1736550;1765503;1793670;2154672 D16S2548E;PMC25060P1;RH65258;SHGC-148983;SHGC-61034 CAR;CMAR;FLJ37308;MGC126331;MGC126332;PGN;SPG5C OTTHUMP00000175348;OTTHUMP00000175349;cell adhesion regulator;cell matrix adhesion regulator;paraplegin;paraplegin, isoform 1;spastic paraplegia 7 protein;spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) APPROVED protein-coding ENSG00000197912 11237 04149 602783;607259 REVIEWED 1314206 SPG20 spastic paraplegia 20 (Troyer syndrome) This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008] 13 13 q13.3 35773775 35818453 - 36875775 36944317 - 6480464;7240710 21832049;19307600;18413476;17420921;17332501;16945107;16344560;16036216;15489334;15231748;15188498;15057823;14702039;12676568;12477932;12134148;10463356;9628581;8889549;6022528;20504295;20719964;19580544;19620182;19765186;16055720;20301556;23372428;16196087;21499309;21559443;19471022;20972266;21139048;21890473;21906983;18781797;21987572;22118674;21963094;23000965;23439121;22053931;22505724 23111 Q8N0X7 AA137195;AB011182;ABBA01021358;ABBA01021359;ABBA01021360;AK001949;AK002207;AK057764;AK291724;AK302119;AL139377;AMYH01005038;AY038359;AY038934;AY123329;AY123331;AY123332;AY123333;AY123334;AY123335;AY123336;AY123337;BC026284;BC047083;BQ719410;BU622545;BX648004;CH471075;CQ859806;DA347686;DA507821;DA710623;DB282617;NG_011559;NM_001142294;NM_001142295;NM_001142296;NM_015087 AAH47083;AAK71883;AAK72374;AAM76671;AAM76672;BAA25536;BAF84413;BAG50995;BAG51030;BAG63497;CAH25953;EAX08558;EAX08559;EAX08560;EAX08561;EAX08562;EAX08563;NP_001135766;NP_001135767;NP_001135768;NP_055902;Q8N0X7 Hs.440414 1654123;1655274;1709742;2122485;2159352;2171027;2174243;2178682;5093310 A009L15;D13S1677;G32643;RH44628;RH45833;SGC35225;SHGC-53419;SHGC-84682;STS-AA020953 KIAA0610;SPARTIN;TAHCCP1 OTTHUMP00000018254;spartin;spastic paraplegia 20 protein;trans-activated by hepatitis C virus core protein 1 APPROVED protein-coding ENSG00000133104 18514 06170 275900;607111 REVIEWED 1604287 SPHKAP SPHK1 interactor, AKAP domain containing 2 2 2 q36 222614003 222822314 - 228552919 228754586 - 228844670 229046361 - 6480464 12080051;18055454;17325258;17164439;15485866;14702039;12477932;11214970;20379614;20394097;23568457;22084075;22479372 80309 Q2M3C7 AB051465;ABBA01050165;AC096557;AC109825;AK090876;AK095042;AK127071;AMYH01011543;BC104954;BC104956;BC143408;CR749297;CR749494;NM_001142644;NM_030623 AAI04955;AAI04957;ADR83443;BAB21769;BAG52242;CAH18152;CAH18317;NP_001136116;NP_085126;Q2M3C7 Hs.436306 1855509;2178648 RH11952;WI-13872 DKFZp781H143;DKFZp781J171;KIAA1678;MGC132614;MGC132616;SKIP A-kinase anchor protein SPHKAP;OTTHUMP00000204164;OTTHUMP00000204165;SPHK1 (sphingosine kinase type 1) interacting protein;SPHK1-interactor and AKAP domain-containing protein;sphingosine kinase type 1-interacting protein protein-coding ENSG00000153820 30619 18052 611646 VALIDATED 1344411 SPI1 spleen focus forming virus (SFFV) proviral integration oncogene This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 p11.2 47332985 47356703 - 47376409 47400127 - 1580863;6480464;6484113;6907045 18676813;10196196;10207087;2180582;10867017;12833137;19281794;19208846;19158090;19118563;19111020;18635311;18316480;18308386;18288635;18056638;17694175;17671233;17623651;17621263;17562868;17545613;17410194;17386941;17218319;17200120;16973891;16861236;16698794;16642264;16352814;16320347;16298389;16263717;16223775;16149049;16083856;16051608;15796964;15632149;15625130;15598817;15342556;15339679;15304486;15242870;14706103;14647463;14623259;12896880;12832449;12778491;12477932;12393465;12372320;12202480;12130529;12130514;12091339;12036891;11929801;11926990;11181995;11133986;11076863;10734131;10411939;10364157;18657865;10050886;10022840;9918847;9681824;9600921;9478924;9376596;9211934;9094628;8626664;8434021;8219191;7730336;7594592;7478579;2338340;1693183;9668064;8632909;22498738;21474105;19382896;21402070;20660370;16331260;16702405;16983342;18692240;19076642;19428102;19502584;19542915;19564417;19632992;19747912;19749795;19825991;19828640;19890096;19966852;20471086;21094529;22569057;20947507;21360505;11593411;21176776;21216962;21239694;21402921;22824976;20159610;21518930;21725055;21421043;18250304;21897363;21732487;21789226;21504384;22231443;22012064;11483597;17197705;21988832;23212521;22075620;22096565;22083997;22145969;22446486;23395001;23501100;23118933;23252456;22674382;9593745;22780968 6688 F5GZ94;F5H3K6;P17947 ABBA01060716;ABBA01060717;ABBA01060718;ABBA01060719;ABBA01060720;AC090559;AC090582;AK310065;AMYH01003541;BI519776;BI909430;BM561863;BP271276;CD368431;CH471064;NM_001080547;NM_003120;U34046;X52056 AAC50247;AAI11380;CAA36281;EAW67924;EAW67925;EAW67926;NP_001074016;NP_003111;P17947 Hs.502511 1658303;1704988;1742543 D11S3994;GDB:197862;SHGC-78002 OF;PU.1;SFPI1;SPI-1;SPI-A 31 kDa transforming protein;31 kDa-transforming protein;OTTHUMP00000196462;OTTHUMP00000238031;OTTHUMP00000238033;SPI-1 proto-oncogene;hematopoietic transcription factor PU.1;spleen focus forming virus (SFFV) proviral integration oncogene spi1;transcription factor PU.1 APPROVED protein-coding ENSG00000066336 11241 01305 165170 REVIEWED 1317131 SPHK2 sphingosine kinase 2 This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 19 19 q13.2 53814360 53825474 + 49122548 49133663 + 1580863;6480464;6484113;6907045 12391145;11777919;10751414;19490468;19240026;19168031;18263879;18178871;17895250;17635916;17311928;16103110;15951439;15489334;14702039;14596938;12477932;11230166;21307639;16316995;16888242;20197547;20237496;19729656;16344560;21495716;21706498;21707492;21620961;21926972;23359503;23128233 56848 A0T4C8;B3KV83;E7ET12;E9PCV4;M0QXX5;M0QZP3;M0R0E9;M0R344;Q9NRA0 AB100373;ABBA01032980;ABBA01032981;AC022154;AF245447;AK000599;AK074601;AK122735;AK125560;AK297787;AK300541;AL136701;AMYH01009904;BC006161;BC010671;BI224962;CH471177;DA926908;DB053266;DB367710;EF107108;HC039411;HH961880;NG_029867;NM_001204158;NM_001204159;NM_001204160;NM_001243876;NM_020126 AAF74124;AAH06161;AAH10671;ABK81123;ABM87789;ABW03921;BAA91280;BAC11085;BAC55583;BAG53695;BAG62249;BAH12667;CAB66636;CBH26133;CBX51413;EAW52365;EAW52366;EAW52367;EAW52368;EAW52369;EAW52370;EAW52371;NP_001191087;NP_001191088;NP_001191089;NP_001230805;NP_064511;Q9NRA0 Hs.528006 1688444;2139059;2158876;5015961 D15S1477;RH47213;RH75877;SHGC-36947 SK 2;SK-2;SPK 2;SPK-2 SK 2;SPK 2;sphingosine kinase 2;sphingosine kinase type 2;sphingosine kinase type 2 isoform APPROVED protein-coding ENSG00000063176 18859 06157 607092 REVIEWED 1314796 SPIC Spi-C transcription factor (Spi-1/PU.1 related) 12 12 12 q23.2 101535714 101545426 + 100394788 100404906 + 101870657 101880775 + 1580863;6480464 16647686;15489334;12477932;12459275;21832049 121599 Q8N5J4 ABBA01053240;ABBA01053241;AC090671;AF518404;AMYH01004702;BC032317;CH471054;NM_152323 AAH32317;AAN84476;ABZ92378;EAW97662;NP_689536;Q8N5J4 Hs.577097 MGC40611;SPI-C OTTHUMP00000243374;transcription factor Spi-C protein-coding ENSG00000166211 29549 15438 612568 PROVISIONAL 1347644 SPIB Spi-B transcription factor (Spi-1/PU.1 related) The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 19 19 q13.3-q13.4 55614028 55624060 + 50922195 50934310 + 1580863;6480464 1406622;8670269;18792017;18552212;16317090;16263717;15583020;15489334;12477932;12393575;11864910;11841448;10196196;8125298;8632909;12748276;22257840;10618498;18029348;20826618;20639880;22071512;21399635;16344560;19416867;22510878;22698399;10364157;21988832;23439650;23165482 6689 M0QXA8;M0R037;M0R2J9;Q01892 ABBA01068323;AC020909;AK225225;AK225720;AK292644;AK300639;AMYH01009939;BC007921;BQ064401;CH471135;DA957263;GD140573;NM_001243998;NM_001243999;NM_001244000;NM_003121;X66079;X96998 AAH07921;ABZ92185;BAF85333;BAG62328;CAA46878;CAA65726;EAW71858;EAW71859;EAW71860;EAW71861;EAW71862;EAW71863;EAW71864;NP_001230927;NP_001230928;NP_001230929;NP_003112;Q01892 Hs.437905 1664212;2218054;5015961;5016478;5022463;5022578;5022651;5024756;5037552;5124811 D11S2921;D15S1477;D1S1423;D3S1673;D8S2279;GDB:434012;RH47504;RH80030;RH93516;SPIB_3466 SPI-B transcription factor Spi-B APPROVED protein-coding ENSG00000269404 11242 606802 REVIEWED 1606953 SPICE1 spindle and centriole associated protein 1 3 3 3 q13.2 111570154 111642619 - 114644260 114716693 - 113161565 113234034 - 6480464 17081983;15489334;15342556;15302935;12477932;9110174;8619474;8012384;20736305;20400511;18029348;20360068;21139048;21906983 152185 C9IZF0;C9J4W3;C9J5T2;H7C5N4;Q8N0Z3 ABBA01061652;ABBA01061653;AC112128;AK057966;AK126897;AK129575;AK296160;AL832148;AL832327;AMYH01013394;AMYH01013395;AY099107;BC019232;BC036951;BC038595;BP278430;CH471052;NM_144718;U79249;Z61420 AAH19232;AAH36951;AAM34495;BAG54389;BAG58899;CAD91167;EAW79634;EAW79635;EAW79636;EAW79637;NP_653319;Q8N0Z3 Hs.477144 1646576;1675740;1698578;2147737;5015861;5020948;5022578;5022651;5092658;5109281;7185938 A005N03;D10S16;D11S2921;D1S1423;D1S1425;G32244;G35510;RH102841;RH93646;SHGC-77205 CCDC52;FLJ26064;FLJ44949;SPICE OTTHUMP00000214562;coiled-coil domain containing 52;coiled-coil domain-containing protein 52;spindle and centriole protein;spindle and centriole-associated protein 1 APPROVED protein-coding ENSG00000163611 25083 11242 613447 VALIDATED 6481378 SPIN4-AS1 SPIN4 antisense RNA 1 100874033 AL158203 APPROVED miscrna 41177 1603315 SPIDR scaffolding protein involved in DNA repair 8 8 8 q11.21 44177794 44633625 + 48336095 48811028 + 48173489 48648563 + 6480464 15858003;15502879;15489334;14702039;12477932;8590280;8889548;22589738;23509288;23603433;23754376 23514 B3KP42;B4DFV2;B4DMX9;B4DWT8;B4E0Y6;E5RFY2;E5RGV8;E5RGX8;E5RHG3;E5RIB8;E5RIU7;E5RJJ2;E7EVI9;H0YBC9;Q14159 ABBA01041629;ABBA01041630;ABBA01041631;ABBA01041632;ABBA01041633;ABBA01041634;ABBA01041635;ABBA01041636;ABBA01041637;AC023991;AC024451;AC024649;AC104995;AC142471;AC233269;AK026929;AK055680;AK092336;AK122820;AK293809;AK293972;AK294248;AK294275;AK297681;AK301677;AK303140;AK303579;AK309842;AK310584;AMYH01018700;AMYH01018701;AMYH01018702;BC015561;BM981420;D63480;DR000775;NM_001080394 AAH15561;AAI56772;BAA09767;BAG51554;BAG57216;BAG57344;BAG57544;BAG57563;BAG60041;BAG63150;BAG64244;BAG64598;NP_001073863;Q14159 Hs.381058 1652048;1663839;1678423;1688008;1690744;1694676;1698276;1709150;1721557;1731929;1750735;1751479;1766377;2117338;2117340;2139682;2169627;2175847;2185002;5093374 A001T40;A009N15;AFMB290WB9;D8S359;G19638;G32171;G32681;G43519;G59783;RH102674;RH36389;RH40570;RH68757;RH77701;RH78174;RH79727;SHGC-105289;SHGC-112129;SHGC-149722;SHGC-85736 FLJ35017;SPIDR OTTHUMP00000226081;OTTHUMP00000226084;hypothetical protein LOC23514;scaffolding protein involved in DNA repair;uncharacterized protein KIAA0146 APPROVED protein-coding ENSG00000164808 28971 VALIDATED 1603797 SPIN2B spindlin family, member 2B X X X p11.1 61000501 61002365 - 57162840 57164704 - 57146115 57147979 - 6480464 15772651;15489334;12477932;12145692;20351274;17207965 474343 Q5JZB7;Q5JZB8;Q9BPZ2 ABBA01069351;AF356353;AL022157;AMYH01022462;BC000044;BC071974;BQ221120;CH471154;NM_001006681;NM_001006682;NM_001006683 AAH00044;AAH71974;AAK37566;ADQ31693;EAW93238;EAW93239;EAW93240;NP_001006682;NP_001006683;NP_001006684;Q9BPZ2 Hs.460717 1747875 G66846 SPIN-2;SPIN2_duplicate;dJ323P24.2 OTTHUMP00000023416;OTTHUMP00000023417;OTTHUMP00000023418;SPIN-2B;spindlin family, member 2 duplicate;spindlin-2B;spindlin-like protein 2B;telomeric SPIN2 copy protein-coding ENSG00000186787 33147 18662 300517 VALIDATED 1601681 SPINK14 serine peptidase inhibitor, Kazal type 14 (putative) 5 5 5 q32 143630039 143634356 + 147529489 147535154 + 147549296 147554961 + 15060002 408187 H3BT63;M1EY23;Q6IE38 ABBA01026319;AC116334;AMYH01015696;BN000355;JF509943;NM_001001325 AAI41496;AAI48776;AFB83536;CAE51407;NP_001001325;Q6IE38 Hs.553815 SPINK5L2 Kazal type serine protease inhibitor 5-like 2;OTTHUMP00000160148;putative serine protease inhibitor Kazal-type 5-like 2;serine protease inhibitor Kazal-type 14 APPROVED protein-coding ENSG00000196800 33825 18098 VALIDATED 1348781 SPIN2A spindlin family, member 2A This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009] X X X p11.1 61016469 61018444 - 57178808 57180783 - 57162083 57164058 - 1580863;6480464 15772651;15489334;12477932;12145692;12107411;9271673;19377476;17207965;23084401;21139048;21890473;22944692 54466 Q99865 ABBA01069351;AL022157;AMYH01022462;BC071694;CH471154;NG_016252;NM_019003;Y09858 AAH71694;ADQ31974;CAA70988;EAW93242;EAW93243;NP_061876;Q99865 Hs.460725 2157694 RH70968 DXF34;MGC88670;RP3-323P24.2;SPIN2;dJ323P24.1 OTTHUMP00000024302;OTTHUMP00000024303;SPIN-2;SPIN-2A;centromeric spin2 copy;spindlin homolog 2;spindlin-2A;spindlin-like protein 2;spindlin-like protein 2A APPROVED protein-coding ENSG00000147059 20694 06725 300621 REVIEWED 1314698 SPIN1 spindlin 1 9 9 q22.1 90193117 90283443 + 91003297 91093623 + 1580863;6480464 18543248;18391951;18201843;17082182;16472086;16381901;16098913;15489336;15489334;15164053;14702039;12477932;11256614;11230166;11076863;9053325;16169070;21044367;23077255;19167051;21960006;19322201;21890473;22258766;17620599;22354994;20881960;22952844 10927 Q9Y657 ABBA01016517;ABBA01016518;AF087864;AF106682;AF317228;AJ420427;AK024590;AK027044;AK092017;AK289691;AK290009;AK315854;AL136719;AL353748;AMYH01021492;BC013571;BC114515;BC114565;BT007314;CH471089;CR533484;DB465491;NM_006717 AAD43035;AAG38112;AAG48367;AAI14516;AAI14566;AAP35978;ABM84462;ABM87799;BAF82380;BAF82698;BAF98745;BAG52466;CAB66653;CAG38515;CAL37656;CAL38623;EAW62753;EAW62754;EAW62755;NP_006708;Q9Y657 Hs.146804 1644928;1648520;1669561;1687337;1730349;1739371;1850185;2140913;2150505 D9S1653E;D9S190E;HSC0EH092;RH11968;RH36190;RH98753;SGC30455;SHGC-30777;STS-AA009936 SPIN OTTHUMP00000021608;ovarian cancer-related protein;spindlin;spindlin-1 protein-coding ENSG00000106723 11243 18096 609936 VALIDATED 1315213 SPINK5 serine peptidase inhibitor, Kazal type 5 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q32 147423759 147497120 + 147443535 147516925 + 1599104;1580863;6480464;7240710 10835624 10419450;15680911;12915442;18029348;15675955;19534795;19247692;19118981;18774391;18588753;17989887;17989726;17936012;17596512;17415575;17333166;16601670;16519819;16374478;15986064;15942217;15820494;15466487;22588119;22377713;10712206;15366933;15304086;15005725;14551605;12752122;12437098;11943586;11874482;11841556;11796258;11594460;11544479;11511292;19913121;20628086;19438860;19522716;19674346;19996348;20085599;20107740;20395963;20533828;20701904;20800603;21087323;21564178;22017185;21585560;22089833;22570283;22730493 11005 E5RFU9;E5RG22;E7EWP9;Q96PP2 ABBA01026319;ABBA01026320;AC008722;AC116334;AF086524;AF147363;AF295783;AF295784;AI341060;AJ228139;AJ391230;AK025197;AK299455;AK301660;AK307588;AK307648;AK309753;AMYH01015695;BI256857;BX648792;CH471062;DQ149927;DQ149928;DQ149929;DR421881;NG_009633;NM_001127698;NM_001127699;NM_006846 AAI41546;AAK97139;AAK97140;ABA06534;ABA06535;ABA06536;BAG61426;BAG63135;CAB40839;CAB96877;EAW61815;NP_001121170;NP_001121171;NP_006837;Q9NQ38 Hs.331555 1658217;2141684 D5S2598;RH65250 DKFZp686K19184;FLJ21544;FLJ97536;FLJ97596;FLJ99794;LEKTI;LETKI;NETS;NS;VAKTI OTTHUMP00000165950;OTTHUMP00000165951;OTTHUMP00000165952;OTTHUMP00000223888;lympho-epithelial Kazal-type-related inhibitor;lymphoepithelial Kazal-type-related inhibitor;serine protease inhibitor Kazal-type 5 APPROVED protein-coding ENSG00000133710 15464 05423 147050;256500;605010 REVIEWED 1602297 SPIN4 spindlin family, member 4 X X X q11.1 62913949 62918060 - 62483832 62487943 - 62567107 62571218 - 6480464 14702039;12477932;11181995;21139048;21890473;21906983;19322201 139886 Q56A73 ABBA01066778;AC234780;AK021705;AK126931;AL158203;AL833314;AMYH01022491;BC035088;BC043412;BC112360;CH471132;NM_001012968 AAH43412;AAI12361;BAG54402;EAX05423;NP_001012986;Q56A73 Hs.612782 1689402;5493451 RH93265;UniSTS:486476 FLJ44984;MGC133224 OTTHUMP00000023423;spindlin-4 protein-coding ENSG00000186767 27040 12556 VALIDATED 1604513 SPIN3 spindlin family, member 3 X X X p11.21 60856938 60876122 - 57033989 57038713 - 57002803 57021988 - 6480464 18029348;16344560;15772651;15489334;14702039;12477932;17620599;19322201;22952844 169981 Q5JUX0 ABBA01069369;ABBA01069370;ABBA01069371;AJ271379;AK123122;AK127485;AK304047;AL139397;AL832091;AMYH01022460;BC016437;BC018073;BC032490;BC146899;BC146906;BX403408;CH471154;DB151976;NM_001010862;NR_027139 AAI46900;AAI46907;BAH14098;EAW93237;NP_001010862;Q5JUX0 Hs.522672 1650191 WI-21136 FLJ41127;FLJ54952;MGC40395;SPIN-3;bA445O16.1 OTTHUMP00000023415;bA445O16.1 (DXF34);spindlin-3;spindlin-like protein 3 protein-coding 27272 18097 VALIDATED 2949691 SPINK13 serine peptidase inhibitor, Kazal type 13 (putative) 5 5 5 q32 143727787 143745137 + 147628616 147645966 + 147648423 147665773 + 6480464 12477932;14702039;15060002;18390568;22505724 153218 Q1W4C9 ABBA01026318;AC011346;AK001520;AMYH01015699;BC128163;BC128164;CH471062;DQ438947;EF108324;EF426754;NM_001040129 AAI28164;AAI28165;ABD96086;ABO28598;ABR09863;EAW61812;NP_001035218;Q1W4C9 Hs.483771 1689326 RH92492 HBVDNAPTP1;HESPINTOR;LiESP6;MGC149260;SPINK5L3 OTTHUMP00000223889;hepatitis B virus DNA polymerase transactivated human serine protease inhibitor;hepatitis B virus DNA polymerase transactivated serine protease inhibitor;serine peptidase inhibitor, Kazal type 13 (putative);serine protease inhibitor Kazal-type 13;serine protease inhibitor Kazal-type 5-like 3 protein-coding ENSG00000214510 27200 615205 PROVISIONAL 1350719 SPINK1 serine peptidase inhibitor, Kazal type 1 The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008] 5 5 q32 147184339 147191453 - 147204143 147211260 - 1599102;1580863;2300384;2300385;2300388;2300393;2300382;2300389;2300390;2300387;2300386;2300391;6480464;7240710 10835640;16327984;15963628;10508484;8674801;17306443;9891532;8988701;11176522;15269150;2258083 3877508;3501289;2961612;2110056;2093478;1613792;843082;1870127;14722925;14688470;14675563;14595541;14526128;12973686;12939655;12875970;12825076;12822871;12649567;12529713;12477932;12452372;12360464;12360463;12187509;12120224;12120220;12014716;12011155;11950817;11950815;11938439;11866271;11355022;10982753;10691414;9643675;8433367;7142173;14507909;19502653;19433603;19404200;19384300;19147803;19096130;19077465;18986377;18978175;18953248;18852684;18706099;18680227;18617776;18580441;18538735;18428024;18414673;18347987;18336671;18317448;18182741;18076731;17990360;17981921;17681820;17613931;17568390;17525091;17489851;17446841;17333166;17238043;17163998;17072959;17003641;16981266;16958672;16954950;16764792;16497624;16187186;15987793;15980664;15910626;15810949;15782101;15764155;15753612;15749233;15749232;15489334;15367892;15329520;15238770;15082592;21415673;20625975;20676769;22313860;20442300;20543535;20849596;19372376;19465903;19565042;19578796;19593166;19654461;19657220;19696993;19844201;19845895;19864383;19888199;20108119;20502448;20551465;20977904;21323990;21368222;21375584;21656687;21610753;21792085;22363992;22343981;22041280;21952138;22427236;21864386;22228370;22508321;22094894;22379635;22699143;22307441;22526274;21739120;23017645;23251661;22751291 6690 D6RIU5;P00995 ABBA01026323;AC011352;AF286028;AI990990;AMYH01015693;BC025790;BU074107;CH471062;M11949;M20530;NG_008356;NM_003122;Y00705 AAA36521;AAA36522;AAG00531;AAH25790;ABM84539;ABM87841;CAA68697;EAW61817;NP_003113;P00995 Hs.407856 1846723 STS-M20530 PCTT;PSTI;Spink3;TATI;TCP OTTHUMP00000160145;OTTHUMP00000223881;pancreatic secretory trypsin inhibitor;serine protease inhibitor Kazal-type 1;serine protease inhibitor, Kazal type 1;tumor-associated trypsin inhibitor APPROVED protein-coding ENSG00000164266 11244 01341 167790;167800;608189 REVIEWED 1606051 SPINK8 serine peptidase inhibitor, Kazal type 8 (putative) 3 3 3 p21.31 48298735 48320292 - 48323340 48344835 - 48348336 48369831 - 6480464 16930550;20379614 646424 P0C7L1 ABBA01024651;ABBA01024652;AC105267;AMYH01013149;NM_001080525 NP_001073994;P0C7L1 Hs.257687 OTTHUMP00000210747;serine protease inhibitor Kazal-type 8 protein-coding ENSG00000229453 33160 PROVISIONAL 1349585 SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] 4 4 q12 57370791 57382650 - 57676034 57687893 - 1580863;6480464 12477932;16751776;17333166;15489334;15120973;8428671;2226783;1801743;1704312;791787;20736409;19422058 6691 D6RC51;D6RI10;P20155 AA776754;AA973772;ABBA01003438;AC022483;AK312222;AMYH01014197;AV743457;AW592089;BC022514;BF589674;BI520020;BI561149;BI562269;BU853655;CH471057;CR542135;DB451710;DQ596286;FB659838;GU727622;HY020998;HY028205;HY043430;HY055610;M84967;M91438;NM_001271718;NM_001271719;NM_001271720;NM_001271721;NM_001271722;NM_021114;NR_073417;NR_073418;NR_073419;X57655 AAB59431;AAH22514;ABM86459;ABW03650;ADU87624;BAG35155;CAB37834;CAG46932;CAS01774;EAX05512;EAX05513;EAX05514;EAX05515;NP_001258647;NP_001258648;NP_001258649;NP_001258650;NP_001258651;NP_066937;P20155 Hs.98243 1298203;1685980;1772514;1773094;5014665 D4S1592;D4S3141;RH11111;SHGC-50821;SHGC4-1789 HUSI-II OTTHUMP00000158971;OTTHUMP00000218967;OTTHUMP00000218968;acrosin-trypsin inhibitor;epididymis tissue protein Li 172;serine protease inhibitor Kazal-type 2;serine protease inhibitor, Kazal type, 2 (acrosin-trypsin inhibitor) protein-coding ENSG00000128040 11245 10422 605753 REVIEWED 1353929 SPINT3 serine peptidase inhibitor, Kunitz type, 3 20 20 20 q12-q13.1 40849624 40852785 - 44141101 44144264 - 44141101 44144264 - 1580863;6480464 17589793;11780052;11549316;20171287;12601814;21988899 10816 P49223 ABBA01052660;AL031663;AMYH01011937;AY372172;BX088813;NM_006652;X77166 AAR17081;CAA54410;NP_006643;P49223 Hs.370724 1682497 RH75989 HKIB9 OTTHUMP00000031134;kunitz-type protease inhibitor 3;serine protease inhibitor Kunitz type 3 protein-coding ENSG00000101446 11248 613941 VALIDATED 1603467 SPINT4 serine peptidase inhibitor, Kunitz type 4 20 20 20 q13.12 41059492 41062839 + 43784402 43787749 + 44350988 44354335 + 21988899;21536719 391253 Q6UDR6 ABBA01052665;AL109656;AMYH01011938;AY372173;AY372174;CH471077;NM_178455 AAR17082;AAR17083;EAW75818;NP_848550;Q6UDR6 Hs.677891 C20orf137;SPINT3;dJ601O1.1 OTTHUMP00000160650;kunitz-type protease inhibitor 4;serine protease inhibitor, Kunitz type 1;serine protease inhibitor, Kunitz type 4 protein-coding 16130 PROVISIONAL 1343963 SPINT5P serine peptidase inhibitor, Kunitz type 5, pseudogene 11181995;21988899 140863 AL050348;CH471077;NG_033275 EAW75819 C20orf168;dJ447F3.6 APPROVED pseudo 16161 INFERRED 1342974 SPINK4 serine peptidase inhibitor, Kazal type 4 9 9 9 p13.3 33170395 33178768 + 33230196 33238565 + 33240196 33248565 + 1580863;6480464 18029348;17333166;15489334;15164053;12678500;12477932;1400298 27290 O60575;Q5VZE7 ABBA01065064;AF048700;AL161445;AMYH01019322;BC110068;CH471071;NM_014471 AAC05124;AAI10069;EAW58518;NP_055286;O60575 Hs.555934 MGC133107;PEC-60;PEC60 OTTHUMP00000021194;OTTHUMP00000021195;gastrointestinal peptide;peptide PEC-60 homolog;serine protease inhibitor Kazal-type 4;serine protease inhibitor, Kazal type 4 protein-coding ENSG00000122711 16646 11598 613929 PROVISIONAL 1351307 SPINK6 serine peptidase inhibitor, Kazal type 6 The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010] 5 5 5 q32 143661768 143674063 + 147562597 147574893 + 147582357 147594700 + 1303943 15060002 15489334;15340161;12975309;12477932;11329013;20667819;21832049;21439340;23303447 404203 D6RGX9;Q6UWN8 ABBA01026318;AC011346;AMYH01015696;AMYH01015697;AY358716;BC032003;BE122852;CH471062;GQ504704;GQ504705;NM_001195290;NM_205841 AAH32003;AAQ89078;ADM46526;ADM46527;EAW61813;EAW61814;NP_001182219;NP_995313;Q6UWN8 Hs.334274 BUSI2;MGC21394;UNQ844 OTTHUMP00000223886;OTTHUMP00000223887;acrosin inhibitor;kallikrein inhibitor;protease inhibitor H;serine protease inhibitor Kazal-type 6;serine protease inhibitor, Kazal type 6 APPROVED protein-coding ENSG00000178172 29486 15439 REVIEWED 1603723 SPINK9 serine peptidase inhibitor, Kazal type 9 5 5 5 q32 143794482 143798772 + 147695315 147699605 + 147715122 147719412 + 19190773;19194479;12477932;19502653;21899598;22505519 643394 D6RJC5;Q5DT21 ABBA01026318;AC091948;AMYH01015699;AY396740;BC137530;BC137531;NM_001040433 AAI37531;AAI37532;AAR91618;NP_001035523;Q5DT21 Hs.631798 LEKTI2 OTTHUMP00000223922;OTTHUMP00000223923;lymphoepithelial Kazal-type-related inhibitor 2;serine protease inhibitor Kazal type 9;serine protease inhibitor Kazal-type 9 protein-coding ENSG00000204909 32951 613511 PROVISIONAL 1606769 SPINK7 serine peptidase inhibitor, Kazal type 7 (putative) 5 5 q32 147672183 147675675 + 147691990 147695482 + 6480464 12970870;18824154;18618216;18162463;17693286;17602171;17418617;17352218;15489334;14639608;12975309;12646258;12477932;19717562;19796867;21042721;22528291 84651 E5RFX6;P58062 ABBA01026318;AC091948;AF268198;AMYH01015699;AY359072;BC109385;BC110067;CH471062;NM_032566 AAI09386;AAI10068;AAK27795;AAQ89431;EAW61810;NP_115955;P58062 Hs.244569 ECG2;ECRG2;MGC133105;MGC133106 ECRG-2;OTTHUMP00000160149;esophagus cancer related gene 2;esophagus cancer-related gene 2 protein;esophagus cancer-related gene-2;serine protease inhibitor Kazal-type 7 protein-coding ENSG00000145879 24643 16850 VALIDATED 1314110 SPIRE2 spire homolog 2 (Drosophila) 16 16 16 q24 74959135 75003098 + 88422408 88465228 + 89894907 89937727 + 6480464 14702039;12477932;11347906;19605360 84501 H3BV39;H3BV74;Q8WWL2 AB058735;ABBA01014125;ABBA01014126;ABBA01014127;ABBA01014128;ABBA01014129;AC092385;AJ422077;AK094918;AK130685;AL834408;AMYH01007938;AMYH01007939;AMYH01007940;BC011119;BC063706;BC111030;BC139732;BX439688;CH471184;NM_032451 AAH63706;AAI11031;AAI39733;BAB47461;BAG52954;CAD19439;CAD39070;EAW66680;EAW66681;EAW66682;NP_115827;Q8WWL2 Hs.461786 1679549;2134359;2138501;5014039;5014051;5015404;5015619;5015961;5016478;5022200;5022450;5022651;5037552 D10S275;D11S2921;D11S3114;D15S1477;D22S1584;D8S2278;D8S2279;GDB:434012;L17705;L18426;RH67860;RH93207;SHGC-32044 MGC117166;Spir-2 protein spire homolog 2 protein-coding ENSG00000204991 30623 18099 609217 VALIDATED 1606832 SPINT1 serine peptidase inhibitor, Kunitz type 1 The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 q15.1 38923538 38937145 + 41136246 41149853 + 6480464 11013244;22023801;15713485;9045658;18029348;19223533;19148468;18813126;18769935;18713750;17981575;17786295;17389401;16820046;16713569;16341674;16273651;16103126;15994391;15489334;15340161;15231748;12975309;12815039;12477932;11290548;11201608;10824123;10544273;10373425;10219059;9743567;20715109;20716618;20696767;16044910;19222607;19535514;19578736;20977675;21166957;20213201;21123732;21795523;22589738;21898507;21906983;22031598;23409135;22118498;23393351;23443661 6692 F5H877;H3BMB6;H3BNW5;H3BR01;H3BSM2;H3BTQ8;H3BVD9;O43278 AB000095;ABBA01038428;ABBA01038429;ABBA01038430;ABBA01038431;AC012476;AI684245;AK300195;AK303899;AK314825;AMYH01006566;AY296715;AY358969;BC004140;BC018702;BE871002;BM763214;BT007425;CH471125;NG_029239;NM_001032367;NM_003710;NM_181642 AAH04140;AAH18702;AAP36093;AAP44001;AAQ89328;ABM81673;ABM83219;ABM86419;BAA25014;BAG37346;BAG61968;BAG64831;EAW92457;EAW92458;NP_001027539;NP_003701;NP_857593;O43278 Hs.233950 1690554;1699980;1725561;2135594;2155490;2180332;2217812 G62007;PPP1R14D_2784;RH103600;RH47591;RH80144;STS-R72769;WI-21808 HAI;HAI1;MANSC2 HAI-1;OTTHUMP00000160545;hepatocyte growth factor activator inhibitor 1;hepatocyte growth factor activator inhibitor type 1;kunitz-type protease inhibitor 1;serine protease inhibitor, Kunitz type 1 APPROVED protein-coding ENSG00000166145 11246 05494 605123 REVIEWED 1351424 SPINT2 serine peptidase inhibitor, Kunitz type, 2 This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 q13.1 43447042 43474948 + 38755098 38783254 + 1580863;6480464;7240710 9434156;11606055;18029348;9346890;9115294;19185281;19148468;19107935;19047176;18713750;18689863;18358501;17255277;16353247;16236267;15930277;15717269;15489334;15388859;15340161;14734471;14695180;14558597;12571229;12569552;12553733;12522575;12477932;12211652;12180971;11777908;11013244;9359851;9045658;8895530;8601712;20715109;20063316;20687215;10824123;16364318;20009592;21832049;21898507;21890473;21906983;23293962;22505724 10653 K7EJS4;K7EKC8;K7EKQ0;K7EM91;K7ES27;K7ESI5;O43291 AB006534;ABBA01040677;AC011479;AF027205;AF231020;AI199013;AK127479;AK291532;AK297154;AMYH01009779;AW275313;AX772830;BC001668;BC007705;BC011951;BC011955;BC012868;BT020115;BT020116;BT020117;CH471126;CR407604;NG_013372;NM_001166103;NM_021102;U78095;Z36849 AAB84031;AAC02781;AAH01668;AAH07705;AAH11951;AAH11955;AAH12868;AAV38918;AAV38919;AAV38920;BAA25024;BAF84221;BAG59653;CAE06264;CAG28532;EAW56766;EAW56767;NP_001159575;NP_066925;O43291 Hs.31439 1335108;1663706;1771859;5022651 A007F08;D11S2921;D19S897;WI-14931 DIAR3;FLJ45571;HAI-2;HAI2;Kop;PB hepatocyte growth factor activator inhibitor type 2;kunitz-type protease inhibitor 2;placental bikunin APPROVED protein-coding ENSG00000167642 11247 05495 270420;605124 REVIEWED 1354236 SPIRE1 spire homolog 1 (Drosophila) Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] 18 18 18 p11.21 12327387 12540805 - 12436511 12647912 - 12446511 12657912 - 6480464 22542470;17353931;18042452;16344560;14702039;12477932;11747823;10574461;15778465;19605360;20379614;21705804 56907 C9JYR7;J3KNG6;J3KQR5;K7EMJ7;K7ENV1;K7EQR2;Q08AE8 AB032961;ABBA01074020;ABBA01074021;ABBA01074022;ABBA01074023;ABBA01074024;ABBA01074025;AJ277587;AK025433;AK090999;AK290180;AK301711;AL833817;AMYH01008836;AMYH01008837;AP001028;AP001029;AP005482;BC016825;BC115005;BC125206;BC125207;CH471113;DB056921;DB506330;DR001109;NM_001128626;NM_001128627;NM_020148 AAH16825;AAI15006;AAI25207;AAI25208;BAA86449;BAF82869;BAG63182;CAB96370;CAD38680;EAX01544;EAX01545;EAX01546;NP_001122098;NP_001122099;NP_064533;Q08AE8 Hs.515283 1337122;1655776;1677206;1684379;1728519;1734554;1734574;2117068;2118161;2144246;2148920;7185374 D18S71;D18S895E;D18S913E;D18S935E;D18S996;G09552;G63697;RH8155;RH91174;SHGC-32292;SHGC-34655 MGC150621;MGC150622;Spir-1 OTTHUMP00000204686;OTTHUMP00000204687;OTTHUMP00000204688;protein spire homolog 1 APPROVED protein-coding ENSG00000134278 30622 11600 609216 VALIDATED 1345460 SPOCD1 SPOC domain containing 1 1 1 1 p35.2 30525263 30551501 - 32028612 32054167 - 32256025 32281580 - 737633;6480464 12477932 14702039;19389623 90853 A6NLX9;E9PKC3;E9PMX0;E9PPM7;E9PQH7;H0YF46;Q6ZMY3 ABBA01023448;ABBA01023449;ABBA01023450;AK058077;AK091016;AK095829;AK097227;AK131447;AL354919;AMYH01000461;AMYH01000462;BC007910;BC029069;BC039870;BC114430;CH471059;NM_144569 AAH07910;AAH29069;AAH39870;AAI14431;BAB71652;BAC03567;BAC04981;BAD18592;EAX07586;EAX07587;EAX07588;NP_653170;Q6ZMY3 Hs.62604 1643834;5022450;5037552 D10S275;D8S2279;G16277 FLJ25348;FLJ39908;RP11-84A19.1 OTTHUMP00000003954;OTTHUMP00000228471;OTTHUMP00000228473;SPOC domain-containing protein 1 protein-coding ENSG00000134668 26338 08057 PROVISIONAL 1625643 SPNS2 spinster homolog 2 (Drosophila) 17 17 17 p13.2 4414308 4455423 + 4348878 4389977 + 4402129 4443228 + 6480464 19074308;12815463;12477932;21084291;23180825 124976 I3L4N9;Q8IVW8 AB441165;ABBA01054770;AC118754;AMYH01008036;AMYH01008037;BC041772;BC065221;NM_001124758 AAH41772;BAH15192;NP_001118230;Q8IVW8 Hs.22824 1645250 STS-AA009738 protein spinster homolog 2 protein-coding 26992 612584 PROVISIONAL 1602314 SPNS1 spinster homolog 1 (Drosophila) 16 16 16 p11.2 27941112 27950884 + 28893650 28903365 + 28986096 28995869 + 6480464 12815463;14702039;12477932;11340170;11256614;22942098;21903422 83985 H3BMF4;H3BP14;H3BPQ9;H3BPT8;H3BR82;H3BT44;Q9BRN5 ABBA01045680;AC109460;AF212371;AF370423;AK095677;AK289787;AL390215;AL524908;AMYH01007480;BC006156;BC008325;BC038961;BC047741;BC065235;BG771918;CD368853;CH471267;NM_001142448;NM_001142449;NM_001142450;NM_001142451;NM_032038 AAG43830;AAH06156;AAH08325;AAH38961;AAH47741;AAH65235;AAQ15259;BAC04603;BAF82476;CAB99229;EAW52016;EAW52017;EAW52018;EAW52019;EAW52020;EAW52021;EAW52022;EAW52023;NP_001135920;NP_001135921;NP_001135922;NP_001135923;NP_114427;Q9H2V7 Hs.617449 1664607;2183319;5014063;5020414;5022322;5022578;5037552 D11S2560;D15S1390;D1S1423;D8S2279;G10208;L17688;SHGC-61115 FLJ38358;HSpin1;LAT;PP2030;SPIN1;SPINL;nrs OTTHUMP00000162565;protein spinster homolog 1;spinster-like protein 1 protein-coding ENSG00000169682 30621 11599 612583 VALIDATED 737577 SPN sialophorin The protein encoded by this gene is a major sialoglycoprotein found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It may be part of a physiologic ligand-receptor complex involved in T-cell activation. During T-cell activation, this protein is actively removed from the T-cell-APC (antigen-presenting cell) contact site, suggesting a negative regulatory role in adaptive immune response. [provided by RefSeq, Sep 2011] 16 16 p11.2 29581801 29589329 + 29674271 29681828 + 1580863;2306199;2303983;6480464 11781327;7927732 10899905;10753822;2023632;18678668;18586676;18227725;17996943;17979485;17891181;16757688;16751378;16269612;15522211;15489334;15449712;15280197;15187099;15003504;14719063;14676827;12902492;12820726;12626536;12499775;12477932;12411317;12045189;11773067;11238599;10908570;10490978;9616160;9603925;9472040;8858161;2950285;2784859;2521952;2241892;1827122;1731338;1301183;8554898;1683685;22613599;22790855;21045567;21372249;21768350;23400223;23015282;22075155;22576689;22466560;21947346;22171268;16344560;21060818;22830021 6693 A8K9B1;C9JUK7;P16150 ABBA01013122;ABBA01013123;AC009086;AK292626;AK313750;AMYH01007494;BC012350;BC035510;CH471238;DA951208;DB108930;J04536;M61827;NM_001030288;NM_003123;X52075;X60502 AAA51949;AAB59540;AAH12350;ABM83188;ABM86390;BAF85315;BAG36490;CAA36294;EAW80015;EAW80016;NP_001025459;NP_003114;P16150 Hs.632188 1335294;1680339;1682587;1691210;1737581;1741361;1745603;1796874;2127917;2180018;5015861;5015961;5016478;5016596;5020948;5021396;5022322;5022651;5037552;5093644;5109281;5117897;7185938;7187470 D10S16;D11S2560;D11S2921;D15S1477;D16S2670;D1S1425;D7S511;D8S2279;G15885;G32839;G35510;GDB:180921;GDB:196680;GDB:313783;GDB:434012;GDB:626036;GDB:631802;GDB:631813;RH67531;RH70827;RH93020;SPN_423 CD43;GALGP;GPL115;LSN GALGP;OTTHUMP00000123397;OTTHUMP00000196610;galactoglycoprotein;leukocyte sialoglycoprotein;leukosialin;sialophorin;sialophorin (gpL115, leukosialin, CD43);sialophorin (leukosialin, CD43) APPROVED protein-coding ENSG00000197471 11249 06770 182160 VALIDATED 1601816 SPNS3 spinster homolog 3 (Drosophila) 17 17 17 p13.2 4349747 4403640 + 4283968 4338248 + 4337219 4391499 + 6480464 17714910;12477932;20379614;23251661 201305 I3L3W7;Q6ZMD2 ABBA01054766;ABBA01054767;ABBA01054768;ABBA01054769;AC116910;AC127521;AK172832;AMYH01008036;BC023646;CH471108;NM_182538 AAH23646;BAD18797;EAW90439;EAW90440;NP_872344;Q6ZMD2 Hs.657543 1763127;1764233;1776631;1780196;1783556;2129311 D17S1584;RH65750;SHGC-146860;SHGC-147861;SHGC-154466;SHGC-154561 MGC29671 protein spinster homolog 3 protein-coding ENSG00000182557 28433 14531 611701 VALIDATED 1322984 SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008] 5 5 q31.2 136338886 136862917 - 136310987 136835018 - 1580863;6480464 8389704;9181134;19282985;16596217;15372022;14702039;12810672;12477932;11355883;11131125;9545645;9323035;9272383;8626787;7507743;20379614;11751414;12853036;14511383;19322201;23022495 6695 D6RAM7;D6RB21;D6RFX3;Q08629 AB209701;ABBA01068709;ABBA01068710;AC004592;AC005213;AC091818;AC092270;AC106746;AC106787;AC106809;AF231124;AI674088;AK094489;AMYH01015630;AMYH01015631;AMYH01015632;AMYH01015633;AMYH01015634;AMYH01015635;AMYH01015636;BC030691;BG704964;BI550122;CH471062;NM_004598 AAC14063;AAC24945;AAF43687;AAH30691;ABM81840;ABM84991;BAD92938;BAG52875;EAW62185;EAW62186;NP_004589;Q08629 Hs.596136 1698354;1699630;1703724;1709620;1714965;1718907;1719839;1740413;1752889;1757939;1780778;1780780;1780792;1785666;1785690;2125267;2143033;2147637;2152457;2155611;2183147 1446;A002R29;D5S2225E;D5S2429;D5S2484;IB3085;L31473;RH102718;RH103418;RH120820;RH123159;RH123614;SHGC-106775;SHGC-146899;SHGC-66131;SHGC-78900;SHGC-78948;SHGC-85172;bac5202S;bac5202T;bac5208S FLJ37170;SPOCK;TESTICAN;TIC1 OTTHUMP00000159433;sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican);testican-1 APPROVED protein-coding ENSG00000152377 11251 11887 602264 REVIEWED 1315081 SPO11 SPO11 meiotic protein covalently bound to DSB Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008] 20 20 20 q13.31 52645068 52659286 + 55338238 55352456 + 55904831 55919049 + 1580863;6480464 10534401;18166824;16169419;15489334;12477932;11780052;11106738;10622720;20378615;20379614;21556891 23626 H0YCK9;Q5TCH6;Q5TCH7;Q9Y5K1 ABBA01052923;AF149310;AF169385;AL135939;AMYH01012008;AY957583;BC033591;CH471077;NM_012444;NM_198265 AAD44812;AAD52562;AAH33591;AAX44047;EAW75526;EAW75527;NP_036576;NP_937998;Q9Y5K1 Hs.159737 2109881 SPO11_9386 CT35;MGC39953;SPATA43;TOPVIA OTTHUMP00000031360;OTTHUMP00000031361;OTTHUMP00000031362;OTTHUMP00000031363;SPO11 meiotic protein covalently bound to DSB homolog;SPO11 meiotic protein covalently bound to DSB-like;SPO11, meiotic protein covalently bound to DSB-like;cancer/testis antigen 35;meiotic recombination protein SPO11;spermatogenesis associated 43;spo11 meiotic protein covalently bound to dsb-like (s. cerevisiae) APPROVED protein-coding ENSG00000054796 11250 09236 605114 REVIEWED 1318416 SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 10 pter-q25.3 67102339 67132032 - 73488799 73518773 - 73818792 73848790 - 1580863;6480464 10386950;18398821;17950619;17081983;15489334;15340161;12975309;12810672;12477932;12421765;9039502;15342556;16344560;16385451;21216879;21836138;22832964 9806 A6NIR4;F5H283;Q92563 AA922448;ABBA01020366;AC022392;AJ001453;AK292328;AK294008;AK307091;AMYH01002819;AMYH01002820;AW026489;AY358921;BC023558;BP252465;BQ002304;BQ029472;CH471083;D87465;DA150747;DC305070;NM_001134434;NM_001244950;NM_014767 AAH23558;AAQ89280;ABM84313;ABM87706;BAA13404;BAF85017;BAG57370;CAA04774;EAW54441;EAW54442;EAW54443;NP_001127906;NP_001231879;NP_055582;Q92563 Hs.523009 1694536;1720967;1736060;1736114;1745991;2143059;2165169;2170869;2190967;5093070 A009F10;D10S1334E;D10S1385E;D10S1469;G32501;G43106;G59313;MARC_12153-12154:1004708400:3;RH125661;SHGC-32487 FLJ97039;testican-2 OTTHUMP00000019778;SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 2;testican-2 APPROVED protein-coding ENSG00000107742 13564 12146 607988 REVIEWED 1313840 SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 4 4 4 q32.3 164991472 165486546 - 167891110 168392316 - 167654535 168155741 - 1580863;6480464 19144404;15489334;14702039;12975309;12477932;11751414;12810672;22610502;20379614;17207965;23251661 50859 B4DG04;B4DI52;B4DJY3;E7EMP8;E7ENM6;E7ENT7;E7ENY3;E7EQ24;E7ESN1;E7EVH4;F5H099;H0YA19;Q4W5S3 AB056866;ABBA01070310;ABBA01070311;ABBA01070312;ABBA01070313;ABBA01070314;ABBA01070315;ABBA01070316;ABBA01070317;ABBA01070318;AC010103;AC020599;AC023492;AC107210;AJ001454;AK091078;AK294293;AK294346;AK294637;AK295015;AK295281;AK295407;AK295414;AK296291;AK313042;AMYH01014686;AMYH01014687;AMYH01014688;AMYH01014689;AMYH01014690;AMYH01014691;AMYH01014692;AY358973;BC000460;BC003017;BC013983;BI603782;CH471056;DN989433;NG_030414;NM_001040159;NM_001204352;NM_001204353;NM_001204354;NM_001204355;NM_001204356;NM_001204358;NM_001251967;NM_016950 AAH00460;AAH03017;AAH13983;AAQ89332;AAY40960;AAY40993;ADQ32173;BAB64908;BAG35874;BAG52279;BAG57576;BAG57615;BAG57816;BAG58075;BAG58265;BAG58358;BAG58364;BAG58995;CAA04775;EAX04811;EAX04812;NP_001035249;NP_001191281;NP_001191282;NP_001191283;NP_001191284;NP_001191285;NP_001191287;NP_001238896;NP_058646;Q9BQ16 Hs.481133 1335327;1337179;1337464;1652154;1659658;1659660;1659722;1666401;1695658;1750637;1752311;1768151;1770861;1785198;2127457;2135493;2143891;7185600 D4S2292;D4S2337;D4S2388;D4S3257;D4S417;D4S620;D4S867;SHGC-106257;SHGC-1066;SHGC-111948;SHGC-44435;SHGC-50613;SHGC-50674;SHGC-67641;SHGC-78701;SHGC-84230;SHGC-8990 HSAJ1454;TES-3;TICN3 OTTHUMP00000219853;OTTHUMP00000219854;OTTHUMP00000219857;OTTHUMP00000219858;OTTHUMP00000219862;OTTHUMP00000219864;OTTHUMP00000219865;OTTHUMP00000219866;OTTHUMP00000219867;OTTHUMP00000219868;SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 3;testican 3;testican-3 APPROVED protein-coding ENSG00000196104 13565 12147 607989 REVIEWED 1343453 SPON1 spondin 1, extracellular matrix protein 11 11 p15.2 13940490 14246232 + 13984184 14289679 + 6480464 18780763;18602404;16965763;16303743;16103746;15489334;14983046;14702039;12477932;12168954;12096136;11368520;9872452;8889548;1555244;20379614;23535033;16344560;21569239;23471985;22228203;21488757;22244873 10418 Q3ZCT3;Q9HCB6 AB018305;AB051390;ABBA01061114;ABBA01061115;ABBA01061116;ABBA01061117;ABBA01061118;AC011084;AC074191;AC099738;AI424944;AK001584;AK074803;AK291780;AMYH01003399;AMYH01003400;BC019825;BC041974;BC136513;BC136563;BM671036;BQ026865;CH471064;CQ783692;DA965056;FO081837;NM_006108 AAH19825;AAH41974;AAI36514;AAI36564;BAA34482;BAB18461;BAC11217;BAF84469;BAG50943;CAF86814;EAW68488;EAW68489;NP_006099;Q9HCB6 Hs.643864 1338434;1644139;1661960;1665832;1695934;1704180;1767973;1770822;1773188;2106635;2147046;2172927;2172929;2175999;2176001;7186819 A005Y02;D11S1307;D11S2037;D11S2338;G20587;HSCZTB102;L17751;RH36458;RH77989;SHGC-78889;SHGC-79809;SPON1__5298;WI-11904;WI-13844;WI-18553 KIAA0762;MGC10724;VSGP/F-spondin;f-spondin OTTHUMP00000235296;VSGP/F-spondin;spondin 1, (f-spondin) extracellular matrix protein;spondin-1;vascular smooth muscle cell growth-promoting factor protein-coding 11252 16087 604989 VALIDATED 1352786 SPON2 spondin 2, extracellular matrix protein 4 4 4 p16.3 1098141 1135645 - 1150723 1156597 - 1160720 1202750 - 1580863;6480464 22615945;10512675;19153605;18239089;16368877;16344560;16303743;15489334;15094111;14702039;12975309;12477932;20379614;19903741;21098016;21632881 10417 D6RA41;D6RB12;D6RBY3;D6REX2;D6RFY9;D6RIH5;Q9BUD6 AA864573;AB027466;ABBA01019358;ABBA01019359;ABBA01019360;AC092535;AK024499;AK026054;AK074618;AK074770;AK130164;AMYH01013850;AMYH01013851;AMYH01013852;AMYH01013853;AY358948;BC002707;BC036341;BC086866;BY797606;CB104725;CH471131;CQ782706;DA087369;DA092888;DA201089;DA375259;DB249869;DB254983;NM_001128325;NM_001199021;NM_012445 AAH02707;AAH36341;AAQ89307;AAY40988;BAA85892;BAB15789;BAC11092;BAC11196;CAF85941;EAW82604;EAW82605;EAW82606;NP_001121797;NP_001185950;NP_036577;Q9BUD6 Hs.302963;Hs.635350;Hs.736956 1665989;1735390;2142623 D4S2552E;WI-22263;WI-22617 DIL-1;DIL1;DKFZp686G21139;FLJ16313;FLJ22401;FLJ34460;M-spondin;Mindin OTTHUMP00000112810;differentially expressed in cancerous and non-cancerous lung cells 1;spondin-2 protein-coding ENSG00000159674 11253 16174 605918 VALIDATED 1605812 SPOPL speckle-type POZ protein-like 2 2 2 q22.1 132970983 133042402 + 138975841 139047271 + 139259350 139330805 + 6480464 16740475;16651542;15489334;15146197;14702039;12477932;17207965;23241943 339745 F8WBB7;F8WD02;Q6IQ16 AA737682;ABBA01028122;ABBA01028123;AC092620;AC114763;AK094583;AK293850;AMYH01011130;BC071613;BX538143;CD643025;CH471058;CN315400;NM_001001664 AAH71613;ADQ31920;BAG57248;EAX11609;NP_001001664;Q6IQ16 Hs.333297 1644684;1701550;1852880;1854994;2115716;2122850 D2S1795;D2S2867;RH104408;SHGC-36231;WI-11168;WI-11856 BTBD33;FLJ53775 HIB homolog 2;OTTHUMP00000204219;roadkill homolog 2;speckle-type POZ protein-like protein-coding ENSG00000144228 27934 11261 VALIDATED 1344565 SPP2 secreted phosphoprotein 2, 24kDa This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008] 2 2 2 q37.1 228679717 228706136 + 234624085 234650515 + 234959346 234985776 + 1580863;6480464 9533032;7814406;19375587;19240061;15815621;15489334;15062857;12477932;20548944 6694 C9J6K0;Q13103 ABBA01001953;ABBA01001954;AC006037;AJ272265;AJ308099;AMYH01011583;BC069401;BC106705;BC112438;BC113972;CH471063;NG_008668;NM_006944;U20530 AAA87905;AAH69401;AAI06706;AAI12439;AAX93090;CAB75571;CAC87050;EAW71070;NP_008875;Q13103 Hs.444488 1746007;1798494;1798804;1798884;1799084;1801402;1802268;1808982;1812822;1822194;1825864;1826456;1827616;1831228;1831994;1832274;1832686;1833280;1833774;1836430;1836878;1837424;1838220;1838832;1841220;1841276;1841384;1843846;1844712;1848025;1854763;1947862;1947864;1947866;1947868;1947870;1947872;1947874;1947876;1947878;1947880;1947882;1947884;1947886;1947888;1947890;1947892;1947894;1947896;1947898;1947900;1947902;1947904;1947906;1947908;1947910;1947912;1947914;1947916;1947918;1947920;1947922;1947924;1947926;1947928;1947930;1947932;1947934;1947936;1947938;1947940;1947942;1947944;1947946;1947948;1947950;1947952;1947954;1947956;1947958;1947960;1947962;1947964;1947966;1947968;1947970;1947972;1947974;1947976;1947978;1947980;1947982;1947984;1947986;1947988;1947990;1947992;1947994;1947996;1947998;1948000;1948002;1948004;1948006;1948008;1948010;1948012;1948014;1948016;1948018;1948020;1948022;1948024;1948026;1948028;1948030;1948032;1948034;1948036;1948038;1948040;1948042;1948044;1948046;1948048;1948050;1948052;1948054;1948056;1948058;1948060;1948062;1948064;1948066;1948068;1948070;1948072;1948074;1948076;1948078;1948080;2185402;2201820;2201822;2201824;2201826;2201828;2201830;2201832;2201834;2201836;2201838;2201840;2201842;2201844;2201846;2201848;2201850;2201852;2201854;2201856;2201858;2201860;2201862 ECD00085;ECD00242;ECD00282;ECD00388;ECD01574;ECD02018;ECD05474;ECD07424;ECD12183;ECD14040;ECD14342;ECD14927;ECD16750;ECD17135;ECD17275;ECD17484;ECD17783;ECD18032;ECD19377;ECD19603;ECD19879;ECD20282;ECD20595;ECD21805;ECD21834;ECD21888;ECD23134;ECD23571;REN44776;REN44777;REN44778;REN44779;REN44780;REN44781;REN44782;REN44783;REN44784;REN44785;REN44786;REN44787;REN44788;REN44789;REN44790;REN44791;REN44792;REN44793;REN44794;REN44795;REN44796;REN44797;REN44798;REN44799;REN44800;REN44801;REN44802;REN44803;REN44804;REN44805;REN44806;REN44807;REN44808;REN44809;REN44810;REN44811;REN44812;REN44813;REN44814;REN44815;REN44816;REN44817;REN44818;REN44819;REN44820;REN44821;REN44822;REN44823;REN44824;REN44825;REN44826;REN44827;REN44828;REN44829;REN44830;REN44831;REN44832;REN44833;REN44834;REN44835;REN44836;REN44837;REN44838;REN44839;REN44840;REN44841;REN44842;REN44843;REN44844;REN44845;REN44846;REN44847;REN44848;REN44849;REN44850;REN44851;REN44852;REN44853;REN44854;REN44855;REN44856;REN44857;REN44858;REN44859;REN44860;REN44861;REN44862;REN44863;REN44864;REN44865;REN44866;REN44867;REN44868;REN44869;REN44870;REN44871;REN44872;REN44873;REN44874;REN44875;REN44876;REN44877;REN44878;REN44879;REN44880;REN44881;REN44882;REN44883;REN44884;REN44885;RH118391;RH16609;RH78151;WI-17802;stSG620363;stSG620364;stSG620365;stSG620367;stSG620368;stSG620369;stSG620370;stSG620371;stSG620372;stSG620373;stSG620374;stSG620375;stSG620376;stSG620377;stSG620378;stSG620379;stSG620380;stSG620381;stSG620382;stSG620383;stSG620384;stSG620385 SPP-24;SPP24 OTTHUMP00000065381;OTTHUMP00000065382;OTTHUMP00000203243;secreted phosphoprotein 24;spp-24 APPROVED protein-coding ENSG00000072080 11256 04029 602637 REVIEWED 1323163 SPOP speckle-type POZ protein This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] 17 17 q21.33 45031245 45110524 - 47676246 47755525 - 1580863;6480464;6484113 14702039;12740575;12477932;12426565;12426564;12183056;11279055;11076863;10426994;8889548;8125298;17353931;9414087;19164706;18997279;18218622;16740475;16651542;16524876;16381901;16189514;15897469;15489336;15489334;15240113;15121856;18414007;22013077;22632832;22911784;19818708;20379614;19762545;19261606;21577200;22085717;21139048;21890473;21906983;19256485;21573799;22053931;21988832;23559371 8405 D6RA79;D6RBH6;D6RBR3;D6RD94;D6RDG8;D6RDV6;D6RFL7;D6RGZ4;D6RIS7;H0Y977;O43791 ABBA01041210;ABBA01041211;ABBA01041212;AC006487;AC015795;AJ000644;AK123385;AK222589;AK293045;AK293587;AK300616;AK303268;AK312691;AK316366;AMYH01008469;AW449169;BC001269;BC003385;BM693397;BQ226031;BX282325;CB992730;CH471109;NM_001007226;NM_001007227;NM_001007228;NM_001007229;NM_001007230;NM_003563;W84567 AAH01269;AAH03385;BAD96309;BAF85734;BAG35570;BAG57055;BAG62309;BAG64350;BAH14737;CAA04199;CAL37466;CAL37521;CAL37609;CAL37886;CAL38444;CAL38701;EAW94671;EAW94672;EAW94673;EAW94674;EAW94675;NP_001007227;NP_001007228;NP_001007229;NP_001007230;NP_001007231;NP_003554;O43791 Hs.463382;Hs.740407 1697376;1769058;1789334;1791270;1851492;1853958;2143993;2173252;2179711;2187666 D17S1671;G67888;L18224;L18236;MARC_9787-9788:996688611:1;RH102186;RH35962;SHGC-34743;WI-11042;WI-16848 BTBD32;TEF2 HIB homolog 1;OTTHUMP00000220321;OTTHUMP00000220322;OTTHUMP00000220351;OTTHUMP00000220424;OTTHUMP00000220425;OTTHUMP00000220426;OTTHUMP00000220430;OTTHUMP00000220431;roadkill homolog 1;speckle-type POZ protein APPROVED protein-coding ENSG00000121067 11254 16004 602650 REVIEWED 736066 SPP1 secreted phosphoprotein 1 The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 q22.1 89115826 89123587 + 88896802 88904563 + 1581118;1581125;1581321;1581322;1581323;1581324;1581325;1581326;1581327;1581328;1581329;1581330;1581331;1581332;1581333;1581334;1581336;1581337;1581338;1581339;1581341;1581342;1581343;1581357;1581358;1581359;1581360;1581361;1581362;1581363;1581364;1581365;1581366;1581367;1581368;1581369;1581370;1581371;1581372;1581374;1581375;1581381;1581382;1581383;1581386;1581390;1581391;1581472;1580863;6480464;6903271;6903869;6903264;6903276;6903839;5131995;6903275;6903272;6903837;6903862;6484113;6903265;6907045;6483848 16679731;15625076;16651633;16528250;15531104;14513263;14500723;12620700;12132583;12032186;11721059;16474180;16412998;16221502;16552072;16105024;15949549;15757900;15867270;15534078;15735673;15165989;15123578;12730087;12114325;11920639;16633066;16533775;16331611;15970685;16428483;16299231;16373617;16208410;16145474;15998773;15845635;15863395;15954903;15868370;16047475;15776015;15761492;15712659;12939547;16421174;11567232;15885319;21034455;18390899;22863853;20504883;21378157;20926632;20548025;20720406;12675855;18443355;21483670;15592854 20495387;20921238;21273567;21443102;17439891;16807238;16741188;15744522;11807984;21207061;16720713;19475568;19453261;19369471;19366056;19359522;19346516;19340392;19339987;19337795;19287188;19285954;19285424;19285028;19281985;19246678;19217889;19212618;19208558;19184356;19138884;19076536;19048398;19028408;19023151;19017937;19016748;19014781;19010864;19010227;18997126;18996613;18972404;18952835;18949741;18807011;18787423;18722093;18701136;18694758;18694621;18676742;18670302;18660489;18651220;18629582;18616394;18593988;18550471;18549897;18549690;18537194;18524812;18508510;18493866;18480255;18474739;18470911;18459127;18442196;18413297;18410276;18406574;18396783;18393978;18388057;18353318;18335026;18317949;18210151;18197854;18181047;18178454;18174176;18167187;18162078;18160829;18158320;18155656;18085382;18079410;18072945;18053633;18048491;18037740;18004082;17987038;17960616;17938278;17898038;17896150;17884775;17852826;17848618;17721886;17706953;17696803;17689681;17620367;17595250;17565744;17548669;17545592;17519954;17496055;17493236;17482311;17482182;17464350;17452979;17444956;17418101;17384004;17369493;17360982;17343740;17332338;17316167;17289872;17245215;17227585;17189522;17188882;17170369;17130676;17110905;17044113;17022822;17005603;16962083;16880782;16830223;16817793;16807684;22629140;22699784;22530059;16797773;16786357;16765311;22080623;22591637;22684781;22499302;22510874;16713569;16632752;16614705;16571650;16512757;16489073;16433860;16424021;16381901;16344560;16303743;16204248;16199891;16189514;16166420;16136472;16100012;16009426;16005200;16000556;15998376;15993098;15956076;15869464;15857938;15855273;12620651;12606946;12569382;12527107;12506143;12477932;12456016;12377945;12142743;11979972;11968014;11940202;11933203;11928818;11926891;11861425;11854181;11825898;15742430;15742429;15731245;15696579;15692970;15579312;15501463;15494684;15489336;15489334;15479859;15389974;15167446;15101999;15019804;15014008;15004750;15003892;14996707;14990565;14988426;14716823;14706653;14704150;14592838;14563350;14534308;14524533;14517343;12952171;12949055;12928913;12927044;12879219;12847283;12842452;12771144;12761568;12706004;12650611;12650610;12640447;11076863;10835423;10766759;10751402;10748043;10698186;10657301;10593924;9110174;8910476;8835534;8663267;8619474;8535605;8325891;8195113;7945249;7837791;7665163;7592829;7532190;7522656;2808373;2736258;2726470;2404984;1974876;1729712;1575754;11162551;11801541;11787071;11696986;11375993;21440761;21165579;21174062;21343932;16712791;19602039;20592361;19913121;20384635;20628086;20628624;20634891;21508397;21520066;22218639;23244138;19538464;20533542;20659235;17441427;19593583;19952401;17244457;20086024;20207476;20576283;20545695;20598232;20511184;19399415;20428925;20549562;20978319;21028999;21190594;21273622;20868520;20796249;20138033;20459645;18627421;19781269;20823889;20074733;20819778;20967421;21044748;21067798;21838826;21867616;20689445;19740309;19763701;19767100;19780053;19783881;19784742;19790060;19798549;19804447;19805619;19806573;19834535;19850036;19854170;19885563;19887478;19901966;19948844;20004120;20007708;20008129;20019131;20019453;20056178;20071328;20075512;20085934;20101228;20131968;20144595;20150368;20219412;20377868;20378012;20416077;20453000;20505679;9547293;9614184;20224789;20486203;20849637;20890897;19813107;20638909;10673366;16169070;17253181;18210878;18563556;18682895;19260859;19301019;19365701;19376608;19400906;19476604;19528482;19549529;19556240;19562270;19565503;19581305;19597469;19601999;19603104;19609729;19609945;19634115;19638732;19694703;19706414;19720619;20851233;20349162;20553297;21178099;20562127;21252118;21365018;20874252;21321126;21152079;20597997;21167394;21217752;21167650;21247495;21263033;22935225;23055574;21822558;22784028;20037822;22461132;23071279;21375772;21469198;21810982;21315424;21486700;21609000;21290088;21512310;21585607;21768699;21513757;21539822;22558919;22818182;22927944;22978720;23203407;20501415;20961744;21104439;21743018;19573311;21487066;21630219;21772333;20109337;21909361;21188534;21669963;20038306;21374592;21272459;21547579;21645921;21673011;21853313;21900386;20967551;21397972;21556958;21763380;21785824;21842122;22039306;20625700;21467192;21616556;21992455;21501293;21521652;22038347;22730056;23008732;23072570;20022267;21071960;21632990;21968021;23097037;21796134;21986140;22093695;22847114;21487672;22037483;22131818;21983451;20863582;21962803;22158061;22410369;22456539;22779921;22037626;22402440;22492090;22525502;15516325;20935448;21366712;21703197;21935388;21953299;21963599;22031818;22096023;22175901;22179617;22186244;22207105;22242114;22261033;22329905;22421411;22611763;22219064;22744661;22675553;22711477;20155457;21988832;22580396;22964303;23119061;22882568;23074199;23079960;23112867;23354516;23382482;23407481;22516995;23284864;21706367;23064961;23235966;22895562;23089492;23166604;22918393;22960022;23033660;22115341;22431140;22495819;22584029;22807608;22844418;22458913;22490528;22658130;23098767;23416968;22710694;23263636;23204518 6696 B7Z351;D6R9C5;Q3LGB0;Q96IZ1 AA665210;AB209987;AB469789;ABBA01063542;AC131944;AF052124;AK057738;AK075463;AK290090;AK290104;AK295491;AK296035;AK315461;AMYH01014382;AY956318;BC007016;BC017387;BC022844;BC093033;BF699765;BX648003;CB117856;CH471057;D14813;D28759;D28760;D28761;DA419665;DQ839491;DQ846870;DQ846871;GN077143;HI519544;HQ874460;HQ874461;J04765;JF412666;JF412667;M83248;NG_030362;NM_000582;NM_001040058;NM_001040060;NM_001251829;NM_001251830;U20758;X13694 AAA17675;AAA59974;AAA86886;AAC28619;AAH07016;AAH17387;AAH22844;AAH93033;AAX59003;AAY41035;ABI63352;ABI63357;ABI63358;ABM83470;ABM86681;ACE86697;ACE87381;AEA49027;AEA49028;AEA49030;AEA49031;BAA03554;BAA05949;BAA05950;BAA05951;BAC11635;BAE45628;BAF82779;BAF82793;BAG37848;BAG58801;BAH12087;BAH58215;CAA31984;CAL37646;CAL37776;CAX69239;CBX54353;EAX06004;EAX06005;EAX06006;EAX06007;EAX06008;EAX06009;EAX06010;NP_000573;NP_001035147;NP_001035149;NP_001238758;NP_001238759;P10451 Hs.313 1650163;1666587;1672841;1750133;1751987;1794556;1794722;2142665;2218056 D4S3132;PMC317379P2;PMC351321P4;SHGC-105963;SHGC-112251;SHGC-36594;SHGC-59479;SHGC4-1078;SPP1_3239 BNSP;BSPI;ETA-1;MGC110940;OPN OTTHUMP00000161173;OTTHUMP00000161174;OTTHUMP00000218555;OTTHUMP00000218556;SPP-1;SPP1/CALPHA1 fusion;bone sialoprotein 1;bone sialoprotein I;early T-lymphocyte activation 1;nephropontin;osteopontin;osteopontin-C;osteopontin-D;osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein;secreted phosphoprotein 1;secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1);secreted phosphoprotein-1 (osteopontin, bone sialoprotein);urinary stone protein;uropontin APPROVED protein-coding ENSG00000118785 11255 01325 166490 REVIEWED 1606947 SPPL2C signal peptide peptidase like 2C 17 17 17 q21.31 40569532 40571714 + 41278053 41280107 + 43922256 43924438 + 6480464 16415175;15385547;15293277;12477932;12139484;21738487;16829952;17965014;22693459 162540 Q8IUH8 ABBA01031190;AC003662;AC217770;AC217771;AMYH01008444;AY169316;BC022041;BC025401;CH471233;NM_175882 AAH22041;AAH25401;AAO12541;EAW93564;NP_787078;Q8IUH8 Hs.144491 IMP5 IMP-5;SPP-like 2C;intramembrane protease 5;signal peptide peptidase-like 2C APPROVED protein-coding ENSG00000185294 28902 07085 608284 VALIDATED 1602994 SPPL2A signal peptide peptidase like 2A This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012] 15 15 15 q21.2 27892656 27950835 - 48787022 48845202 - 50999730 51057910 - 6480464 17965014;17557115;16829952;16344560;16303743;16189514;15489334;15385547;14702039;12477932;12139484;12077416;16829951;21896273;21988832 84888 H0YNA2;H0YNA7;Q8TCT8 AA988423;ABBA01039104;ABBA01039105;AC012100;AJ345028;AJ420896;AK027446;AK075454;AK315651;AMYH01006639;AY169314;BC025740;CH471082;DA023801;NM_032802 AAH25740;AAO12539;BAB55117;BAC11630;BAG38017;CAC87789;CAD13133;EAW77410;NP_116191;Q8TCT8 Hs.401537 1853891;5491730 SPPL2A;WI-11902 IMP3;PSL2 IMP-3;OTTHUMP00000162418;SPP-like 2A;intramembrane cleaving protease;intramembrane protease 3;presenilin-like protein 2;signal peptide peptidase-like 2A APPROVED protein-coding ENSG00000138600 30227 09742 608238 REVIEWED 1601988 SPPL2B signal peptide peptidase like 2B This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 2262722 2289416 + 2279629 2306100 + 2328629 2355100 + 6480464 18768471;17965014;16829952;16829951;15998642;15489334;15385547;15057824;12477932;12139484;12077416;10819331;8889548;16873890;19114711;23384347;22194595 56928 Q9P1Z6 AB040965;ABBA01002722;ABBA01002723;ABBA01002724;AC004410;AC005258;AJ345027;AJ420897;AK226130;AK308973;AK309122;AL365405;AMYH01009279;AY169315;BC001788;BC028391;BC093046;BU733058;CH471139;NG_032984;NM_001077238;NM_152988 AAC05601;AAG45441;AAH01788;AAH28391;AAH93046;AAO12540;BAA96056;CAB96951;CAC87788;CAD13134;EAW69383;EAW69384;EAW69385;EAW69386;EAW69387;EAW69388;NP_001070706;NP_694533;Q8TCT7 Hs.744026 1679253;1685109;1770030;2136582;2168237 RH39163;RH92744;STS-R61296;WI-14369;WI-21761 FLJ99014;IMP-4;IMP4;KIAA1532;MGC111084;PSH4;PSL1 IMP-4;SPP-like 2B;intramembrane protease 4;presenilin homologous protein 4;presenilin-like protein 1;signal peptide peptidase-like 2B APPROVED protein-coding 30627 09743 608239 REVIEWED 1606081 SPRED3 sprouty-related, EVH1 domain containing 3 This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 19 19 19 q13 35683176 35689108 + 43572779 43578711 + 38880840 38890524 + 6480464 16465403;19423641;16478641;14618415;12646235;12477932;17094949 399473 B9EKV1;K7EKP4;K7EPT9;K7EPU5;Q2MJR0 ABBA01040680;AC005789;AI028379;AI871425;AMYH01009780;BC151136;BF983829;DQ323927;DQ323928;NM_001042522;NR_073032 AAI51137;ABC54711;ABC54712;NP_001035987;Q2MJR0 Hs.196011 5014740;5016596;5024756 D17S610;GDB:631802;RH80030 Eve-3;spred-3 spred-3;sprouty-related, EVH1 domain-containing protein 3 APPROVED protein-coding 31041 609293 REVIEWED 1605007 SPPL3 signal peptide peptidase like 3 12 12 12 q24.31 120835168 120976050 - 119685418 119826534 - 121200313 121342155 - 6480464 16873890;15998642;15489334;15385547;14702039;12975309;12477932;12139484;12077416;19322201;8125298;19197348;20379614;16829952;23132852;17965014 121665 F5H2A2;F5H4L1;F5H4Y6;F5H6I1;F5H7J2;Q8TCT6;Q9UG23 AB252457;ABBA01020137;ABBA01020138;ABBA01020139;ABBA01020140;AC069214;AC069234;AF086117;AI676074;AJ345030;AJ420898;AK074916;AK097149;AK223590;AK291161;AL110147;AL834399;AMYH01004804;AY169313;AY358767;BC009551;BC025781;BC073910;BC101625;BC101627;BU932077;BX640849;CH471054;NM_139015 AAH09551;AAH25781;AAH73910;AAI01626;AAI01628;AAO12538;AAQ89127;BAC11290;BAD97310;BAF30928;BAF83850;CAB53661;CAC87791;CAD13135;EAW98220;EAW98221;EAW98222;EAW98223;NP_620584;Q8TCT6 Hs.507087;Hs.683964 1683916;1689694;1700516;1846761;1846889;2116297;2162633;2165288;2165705;5022322;5022578;5037552 A006Q41;D11S2560;D12S2073;D1S1423;D4S2372;D8S2279;RH103879;RH44592;RH66303;RH75805;RH93199;SGC34924 DKFZp586C1324;IMP2;MDHV1887;MGC126674;MGC126676;MGC90402;PRO4332;PSH1;PSL4 IMP-2;OTTHUMP00000240480;SPP-like 3;intramembrane protease 2;presenilin homologous protein 1;presenilin-like protein 4;signal peptide peptidase-like 3 APPROVED protein-coding ENSG00000157837 30424 09744 608240 VALIDATED 1318683 SPRED1 sprouty-related, EVH1 domain containing 1 The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008] 15 15 q14 36331808 36433533 + 38545052 38649450 + 6480464;6907045;7240710 22753041;20179001;19120036;18216281;17974561;17704776;17672918;16652141;16344560;16115197;15683364;15465815;15231748;14702039;12646235;12477932;11493923;19913121;20628086;17094949;19366998;19443465;19920235;20339110;20945555;21364986;21616146;21531714;21649642;18029348;19389623;23000965;21900206;21139048;22321011;19322201;22751498;23128233 161742 H0YMN8;Q7Z699 ABBA01038481;AC069381;AK091222;AK095219;AL833561;AMYH01006551;AY299089;BC018015;BC137480;BC137481;BX538234;CH471125;DA405650;NG_008980;NM_152594 AAH18015;AAI37481;AAI37482;AAP59414;BAC03614;EAW92368;NP_689807;Q7Z699 Hs.525781 1649986;1652778;1701268;1981254;2219712;5024761;5037386 D15S221;REN61523;RH104263;RH36905;SPRED1__5300;STS-AA026390;WI-14940 FLJ33903;NFLS;hSpred1;spred-1 EVH1/Sprouty domain containing protein;hSpred1;spred-1;sprouty-related, EVH1 domain-containing protein 1;suppressor of Ras/MAPK activation APPROVED protein-coding ENSG00000166068 20249 11601 609291;611431 REVIEWED 1346391 SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] 2 2 p14-p12 72968056 72972794 + 73114512 73119289 + 1600054;1580863;6480464;6907045;7240710 11443547 1883349;9792819;15197144;19491146;19415819;19027726;18502672;17270157;17188538;16443856;15489334;15241655;12477932;11825621;10384371;9700606;8440319;8304109;8125298;7782081;3536512;22018912;19674121;20038947;20337188;20877624;22939629;18029348;15161933;21782285;18781797;21139048;21890473;23000965 6697 P35270;Q9UEC5 AB017547;AB017548;ABBA01075574;AC012366;AC092630;AK222942;AK291856;AMYH01010435;BC017310;BF434649;CH471053;M76231;NG_008234;NM_003124;S71376 AAA60314;AAD14079;AAH17310;AAY14743;AAY15035;ABM82625;ABM85806;BAA34534;BAA34535;BAD96662;BAF84545;EAW99757;EAW99758;NP_003115;P35270 Hs.301540 1734874;1855960 D2S1632E;D2S2713 SDR38C1 OTTHUMP00000160199;sepiapterin reductase;short chain dehydrogenase/reductase family 38C, member 1 APPROVED protein-coding ENSG00000116096 11257 01632 182125;612716 REVIEWED 1602261 SPRNP1 shadow of prion protein homolog (zebrafish) pseudogene 1 10 10 10 q26.3 128137825 128140983 + 135231324 135233135 - 135380438 135383462 - 6480464 12477932;16385451;20206252 399833 Q6ZTH4 AK126615;AL161645;AMYH01003243;BC136964;NR_033789 AAI36965;BAC86613 Hs.660426 1789114;2138441 G65691;RH47563 FLJ44653 APPROVED pseudo 37819 13492 VALIDATED 1348618 SPRR2B small proline-rich protein 2B 1 1 1 q21-q22 126113489 126114856 - 151309341 151310708 - 153042717 153044084 - 1580863;6480464 8325635;16710414;16639001;15232223;14748073;11279051;9722562;3133554;18643845;20360068;22374195;21985131 6701 P35325 ABBA01049430;AF333952;AL139417;AL356867;AMYH01001403;CH471121;CS673554;CS690937;FB665690;GM706902;L05188;NM_001017418 AAA60576;AAI48720;AAK70940;CAP07544;CAP11512;CAR97127;CAT82408;EAW53345;NP_001017418;P35325 Hs.568239 5038493;5096641 RH17673;RH71351 OTTHUMP00000015752;SPR-2B;small proline-rich protein 2B protein-coding ENSG00000196805 11262 182268 PROVISIONAL 1602790 SPRN shadow of prion protein homolog (zebrafish) 10 10 10 q26.3 128279719 128283670 + 135084160 135088111 - 135234170 135238121 - 6480464 18805828;18778261;15342797;14527721;12477932;9776767;8889548;19913121;20628086;21257747;20379614 503542 Q5BIV9 ABBA01006216;ABBA01006217;ABBA01006218;ABBA01006219;ABBA01006220;ABBA01006221;ABBA01006222;AK123191;AL161645;AMYH01003241;AMYH01003242;AMYH01003243;AW293555;BC040198;BN000518;CD580523;NM_001012508 AAH40198;CAG34288;NP_001012526;Q5BIV9 Hs.64968 1677740;1697818;1731042;1742367;1771306;1773987;1775501;1782136;1782182;1789114;1851795;2134311;2134745;2138441;2145078;2146034;2146036;2146365;2157762;2217242 A002U38;A006I19;CYP2E1_2771;D10S1371E;D10S2350;D10S2410;D10S2490;D10S271;G06274;G20843;G65691;GDB:196492;RH102433;RH1572;RH44494;RH47563;RH91171;SHGC-155358;SHGC-156078;WI-14945 FLJ41197;SHADOO;SHO;bA108K14.1 OTTHUMP00000235372;hypothetical protein BC004409;protein shadoo;shadow of prion protein protein-coding ENSG00000203772 16871 18499 610447 VALIDATED 1319580 SPRED2 sprouty-related, EVH1 domain containing 2 SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008] 2 2 p14 65391489 65512815 - 65537985 65659656 - 1580863;6480464;6907045 19120036;17094949;16652141;16344560;15946934;15683364;15580519;15489334;15465815;15213456;15184877;14981116;14702039;12646235;12477932;11493923;9110174;8619474;17974561;21383967;20677014;19822672;19908229;20379614;20453842;21364986;22777171;21703232;19322201;22305891;23169297;22505724;23128233 200734 B3KPL5;C9J623;C9JG63;H7C065;H7C2T4;H7C3Y6;Q7Z698 ABBA01075438;ABBA01075439;AC012370;AC097503;AF052178;AK025550;AK056479;AK299079;AK307714;AMYH01010405;AMYH01010406;AY299090;BC029300;BC111495;BC130292;BC136334;CH471053;DA102390;DC335282;NM_001128210;NM_181784 AAI11496;AAI30293;AAI36335;AAP59415;ADR83003;BAG51727;BAH12943;EAW99904;EAW99905;EAW99906;NP_001121682;NP_861449;Q7Z698 Hs.59332 1336838;1341532;1659512;1708258;1714631;1849518;2120945;2160853;2170460;2179501;7185610 D2S2231;D2S2501;D2S380;RH120292;RH16568;RH78845;SHGC-31078;SHGC-57719;SHGC-64931;SHGC-79393 FLJ21897;FLJ31917;MGC163164;Spred-2 OTTHUMP00000202294;OTTHUMP00000202297;OTTHUMP00000225519;sprouty protein with EVH-1 domain 2, related sequence;sprouty-related, EVH1 domain-containing protein 2 APPROVED protein-coding ENSG00000198369 17722 18100 609292 VALIDATED 1350197 SPRR2F small proline-rich protein 2F 1 1 1 q21-q22 126155383 126156760 - 151351236 151352613 - 153084612 153085989 - 6480464 8325635;16710414;15232223;11279051;9888996;8340374;18643845 6705 Q96RM1 ABBA01049430;AF333956;AL139417;AMYH01001403;CH471121;NM_001014450;X72500 AAI56789;AAK70943;CAA51165;EAW53343;NP_001014450;Q96RM1 Hs.490252;Hs.534032 1773646;5038493;5096641 RH17673;RH18104;RH71351 OTTHUMP00000016115;SPR-2F;small proline-rich protein 2F protein-coding ENSG00000244094 11266 18699 PROVISIONAL 1320715 SPRR1A small proline-rich protein 1A 1 1 1 q21-q22 126027347 126029080 + 151223181 151224914 + 152956564 152958290 + 1580863;6480464 10908733;15489334;12477932;11850458;11279051;11076863;10066784;9931436;9115270;9008234;8018055;7829876;8325635;18643845;19601998;19672094;19322201 6698 P35321 ABBA01049429;AL356867;AMYH01001402;AW204307;AY755659;BC105081;BC105083;CH471121;L05187;NM_001199828;NM_005987;S73288 AAC26838;AAI05082;AAI05084;AAI11840;AAU88143;EAW53355;EAW53356;EAW53357;NP_001186757;NP_005978;P35321 Hs.46320 2108521;2125723;5493817 RH17911;SPRR1A_8641;UniSTS:495133 SPRK 19 kDa pancornulin;OTTHUMP00000016121;SPR-IA;cornifin A;cornifin-A;small proline-rich protein IA protein-coding ENSG00000169474 11259 01647 182265 VALIDATED 1345846 SPRR2C small proline-rich protein 2C (pseudogene) 1 1 1 q21-q22 126183362 126184737 - 151379218 151380593 - 153112594 153113969 - 1580863;6480464 15232223;11279051;8325635;3133554;16169070;12477932;22118674 6702 Q15515 ABBA01049431;AF333953;AL157405;AMYH01001403;BC120937;L05190;M21539;NR_003062 AAA66001 Hs.2421 1654112;2149741;2157246;2177414;5038493;5096641 G34871;RH17598;RH17673;RH17675;RH71351;SGC35405 small proline-rich protein 2C pseudo 11263 01651 182269 PROVISIONAL 1323772 SPRR1B small proline-rich protein 1B 1 1 q21-q22 151270303 151272000 + 153003679 153005376 + 1580863;6480464 12832281;8889548;10908733;1627333;1438308;18172072;16710414;15489334;12477932;12091247;9115270;8631988;8388378;8325635;7829876;3133554;1482123;18643845;19601998;20360068 6699 E7ETD7;P22528 ABBA01049430;AL356867;AMYH01001403;AY787223;BC056240;CH471121;CK300778;DQ323996;M19888;M21300;M21301;M84757;NM_003125 AAA36636;AAA36637;AAA36638;AAA36643;AAH56240;AAI56327;AAI57077;AAV40826;ABC88598;EAW53351;NP_003116;P22528 Hs.1076 2115335;2146527 D1S2400;RH17671 CORNIFIN;GADD33;MGC61901;SPRR1 14.9 kDa pancornulin;OTTHUMP00000015753;SPR-IB;cornifin B;cornifin-B;small proline-rich protein 1B (cornifin);small proline-rich protein IB APPROVED protein-coding ENSG00000169469 11260 01648 182266 PROVISIONAL 1354484 SPRR2E small proline-rich protein 2E 1 1 1 q21-q22 126136382 126137772 - 151332235 151333625 - 153065611 153067001 - 6480464 9722562;3133554;8325635;16710414;15232223;12477932;11279051;9888996;18643845;20360068 6704 P22531 ABBA01049430;AF333955;AL139417;AMYH01001403;BC058018;CH471121;M20030;NM_001024209 AAA36639;AAI48549;AAI53137;AAK70942;EAW53344;NP_001019380;P22531 Hs.568518 1855185;5038493;5096641 RH17673;RH71351;SHGC-35293 OTTHUMP00000016114;SPR-2E;SPR-II;small proline-rich protein 2E;small proline-rich protein II protein-coding ENSG00000203785 11265 VALIDATED 1344812 SPRR2D small proline-rich protein 2D 1 1 1 q21-q22 126082979 126084372 - 151278825 151280218 - 153012201 153013594 - 6480464 8325635;3133554;16639001;16710414;15232223;12786819;12477932;11329013;11279051;9888996;18643845;20360068;21900206 6703 P22532 ABBA01049430;AF333954;AI383975;AI860616;AK291317;AL356867;AMYH01001403;BC093801;BC093803;BC120938;BG183546;CH471121;M21302;NM_006945 AAA36640;AAI20939;AAI41464;AAK70941;BAF84006;EAW53348;EAW53349;EAW53350;NP_008876;P22532 Hs.505327 2151120;5038493;5096641 D1S2418;RH17673;RH71351 OTTHUMP00000016109;OTTHUMP00000016111;SPR-2D;SPR-II;small proline-rich protein 2D;small proline-rich protein II protein-coding ENSG00000163216 11264 01650 VALIDATED 1352721 SPRR2A small proline-rich protein 2A 1 1 1 q21-q22 126099368 126100760 - 151295220 151296612 - 153028596 153029988 - 1580863;6480464 2388825;12624109;8325635;16639001;18155796;16710414;15489334;15232223;12477932;10737800;9826750;8999895;8816448;18643845;22731250 6700 P35326 ABBA01049430;AK311939;AL356867;AMYH01001403;BC096108;BC096109;BC096110;BC096111;BC128049;BE710686;CA433267;CH471121;NM_005988;X53064 AAH96108;AAH96109;AAH96110;AAH96111;AAI28050;BAG34880;CAA37239;EAW53346;EAW53347;NP_005979;P35326 Hs.355542 1654112;1773646;2110759;5038493;5096641 RH17673;RH17675;RH18104;RH71351;SPRR2A_8642 2-1;OTTHUMP00000016108;SPR-2A;small proline-rich protein 2A protein-coding ENSG00000241794 11261 01649 182267 VALIDATED 1347541 SPRR2G small proline-rich protein 2G 1 1 1 q21-q22 126192826 126194195 - 151388682 151389235 - 153122058 153123427 - 6480464 8325635;16710414;15232223;12477932;11279051;9888996;18643845;20360068;22118674 6706 Q9BYE4 AA456642;AA490630;ABBA01049431;AF333957;AL157405;AMYH01001403;BC130455;BC133041;CH471121;NM_001014291 AAI41501;AAI48781;AAK70944;EAW53341;NP_001014313;Q9BYE4 Hs.490253 1677026 RH92927 OTTHUMP00000016116;SPR-2G;small proline-rich protein 2G protein-coding ENSG00000159516 11267 18500 VALIDATED 1354373 SPRR3 small proline-rich protein 3 1 1 q21-q22 151240847 151242956 + 152974223 152976332 + 1580863;6480464 10510474;9889002;8325635;18832573;17935133;16710414;16344560;15489334;15232223;15221970;14761935;14748073;12786819;12477932;12036303;11443109;11279051;11230159;10737800;9724607;8999895;8809402;8018055;7829876;20599699;18643845;19211270;20379613;21490620;21777580;22076481 6707 B1AN48;F5GZ12;Q9UDG3 ABBA01049430;AF077374;AJ243667;AK311823;AL356867;AMYH01001402;AY118269;BC017802;BF826427;BM955458;CH471121;DA451130;DA763011;DQ017955;EF553525;NM_001097589;NM_005416 AAD11938;AAH17802;AAM74559;AAY26394;ABQ66270;BAG34765;CAB65098;EAW53353;EAW53354;NP_001091058;NP_005407;Q9UBC9 Hs.139322 2219716 SPRR3__5304 22 kDa pancornulin;OTTHUMP00000015757;OTTHUMP00000015758;cornifin beta;esophagin;small proline-rich protein 3 protein-coding ENSG00000163209 11268 01652 182271 VALIDATED 5135340 SPRY4-IT1 SPRY4 intronic transcript 1 (non-protein coding) q31.3 21558391 100642175 AK024556 Hs.684549 1775505 D5S2564 miscrna 42394 1350265 SPRR4 small proline-rich protein 4 1 1 1 q21.3 126013919 126015859 + 151209752 151211693 + 152943128 152945069 + 1580863;6480464 16710414;15489334;12477932;11719550;11279051;18643845;21832049 163778 Q96PI1 ABBA01049429;AF335109;AL356867;AMYH01001402;BC069445;BC069549;BC112170;BC112172;CH471121;NM_173080 AAH69445;AAH69549;AAI12171;AAI12173;AAK96400;EAW53358;NP_775103;Q96PI1 Hs.433629 2219718;5492477;5493013 SPRR4__5305;UniSTS:481227;UniSTS:483735 MGC138375;MGC138377 OTTHUMP00000014401;small proline rich protein 4;small proline-rich protein 4 protein-coding ENSG00000184148 23173 18101 PROVISIONAL 1605027 SPRTN SprT-like N-terminal domain 1 1 1 q42.12-q43 204738552 204754859 + 229540305 229556612 + 231473682 231490769 + 6480464 22987070;23042605;23042607;11256614;16381901;15489336;15231748;14702039;12975309;12477932;11230166;11076863;21139048;21693764;21890473;21906983;22681887;22894931;22902628;21963094;22053931;23000965;23254330;22505724 83932 B1AKT1;Q9H040 ABBA01033037;AK027317;AK027613;AL117352;AL512744;AMYH01001819;AY358611;BC015740;BC068478;BM480135;CH471098;NM_001010984;NM_001261462;NM_032018 AAH15740;AAH68478;AAQ88974;BAB55037;BAB55232;CAC21670;CAL38277;CAL38338;CAL38506;EAW69956;EAW69957;EAW69958;NP_001010984;NP_001248391;NP_114407;Q9H040 Hs.554892 1650031;1650033;1663464;1678483;1735974;2164788;2164790 A005X29;A006H08;D1S1980E;G20577;G20799;RH80352;WI-13849 C1orf124;DDDL1880;DKFZp547N043;DVC1;PRO4323;RP5-876B10.3;Spartan;dJ876B10.3 DNA damage protein targeting VCP;DNA damage-targeting VCP (p97) adaptor;OTTHUMP00000036139;OTTHUMP00000036140;OTTHUMP00000036141;SprT-like domain at the N terminus;protein with SprT-like domain at the N terminus;sprT-like domain-containing protein Spartan;zinc finger RAD18 domain-containing protein C1orf124 APPROVED protein-coding ENSG00000010072 25356 13164 VALIDATED 1313286 SPRY4 sprouty homolog 4 (Drosophila) SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma et al., 2002 [PubMed 12027893]).[supplied by OMIM, Mar 2008] 5 5 q31.3 141670189 141684750 - 141689992 141704620 - 1580863;6480464;6907045 12027893;18298822;16877379;16465403;16388505;16344560;14977631;14702039;12717443;12477932;7566098;20543847;17974561;18273061;19483681;19483682;19761767;20501643;20482313;23074222;22072546;16893902;23128233;15004239 81848 D6RB56;Q9C004 ABBA01026382;AC091825;AF227516;AF251060;AK096464;AK226147;AMYH01015666;AY538661;BC125095;BC125096;BP387943;DA183391;NM_001127496;NM_030964;T32786 AAI25096;AAI25097;AAK00652;AAK34950;AAS46253;BAC04798;NP_001120968;NP_112226;Q9C004 Hs.323308 1670915;1731301;1772146;1775505;2158916 AF005212;D5S1655E;D5S178;D5S2564;RH12495 HH17 OTTHUMP00000160069;OTTHUMP00000222779;OTTHUMP00000222780;protein sprouty homolog 4;spry-4 APPROVED protein-coding ENSG00000187678 15533 10466 607984;615266 VALIDATED 1319561 SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 4 4 q28.1 124537406 124544360 + 124317950 124324915 + 1580863;6480464;6907045 21826097;12593796;15962011;19164898;16954433;16877379;15950061;15489334;14533010;12869526;12477932;12402043;11983899;10887178;9458049;17974561;17207965;20628624;21048031;20813052;20054616;20696135;19915061;20068162;20237272;23074222;23088713;11752456;15146197;16344560;19322201;19864419;21078624;16893902;21988832;23146288;22880013;15004239 10252 D6REX7;D6RHD2;D6RIE6;O43609 ABBA01044750;AC026402;AF041037;AK026960;AL602431;AMYH01014497;AV692593;AY192146;AY590694;BC063856;CA447611;CH471056;CN302060;DA765300;DB250100;HI574038;HI574040;NM_001258038;NM_001258039;NM_005841;NM_199327 AAC39566;AAH63856;AAP20102;AAT06102;ADQ31953;CBX47508;CBX47509;EAX05209;EAX05210;EAX05211;NP_001244967;NP_001244968;NP_005832;NP_955359;O43609 Hs.744854 1683781;2106637;2168323;2181783 RH66329;RH98770;SHGC-59592;SPRY1__5306 hSPRY1 OTTHUMP00000164086;OTTHUMP00000219789;OTTHUMP00000219790;OTTHUMP00000219791;OTTHUMP00000219792;protein sprouty homolog 1;sprouty, Drosophila, homolog of, 1 (antagonist of FGF signaling);spry-1 protein-coding ENSG00000164056 11269 06782 602465 VALIDATED 1349769 SPRY3 sprouty homolog 3 (Drosophila) X X;Y X;Y q28 and Yq12 155151125 155165835 + 154650645 154665311 + 59100457 59115123 + 1580863;6907045 9458049;16877379;16500999;15950061;15489334;14702039;12477932;12391162;10887178;10655549;17974561;17207965 10251 O43610;Q6ZUP3 ABBA01028631;AF041038;AJ271735;AK094610;AK125483;AK289543;AMYH01023345;BC069609;BC074972;BC074973;CH471247;NM_005840 AAC39567;AAH69609;AAH74972;AAH74973;ADQ32942;BAC86177;BAF82232;CAB96768;EAW55876;NP_005831;O43610 Hs.381912 2106639;5106126;5492617;5492729 SPRY3;SPRY3__5307;UniSTS:481800;UniSTS:482152 HSPRY3;spry-3 OTTHUMP00000024256;antagonist of FGF signaling;protein sprouty homolog 3;spry-3 protein-coding ENSG00000168939 11271 03917 300531 VALIDATED 1322949 SPRY2 sprouty homolog 2 (Drosophila) This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008] 13 13 q31.1 79808112 79813087 - 80910111 80915086 - 1580863;6480464;6484113;6907045 9458049;12593796;15962011;19147787;19022413;19008219;18683950;18622748;18485666;18427547;18214995;18070883;18048363;17693063;17496316;17388787;17320394;17255109;16954433;16877379;16489004;16479008;16381901;16371366;16327884;16189514;16126775;16000370;15950061;15735753;15653567;15564375;15489336;15489334;15351707;15313890;15201220;15122328;15057823;15031289;12815057;12717443;12477932;12414790;17689925;17510316;12402043;12391162;12234920;11983899;11698404;11230166;11076863;11053437;10940627;10887178;22383529;22558309;20638779;20572854;20634891;21099344;18273061;19364817;19458088;19545245;19690147;19864419;20023658;20123980;20237272;17974561;20862305;20543868;20661223;20956544;16246327;20678191;21134562;18678649;20624167;20877636;21111454;20934684;12593795;21239886;23074222;21706003;21762810;21278789;21364986;16893902;23434594;23455924;23650389;23718855;16888801;20124286;20461437;21596750;21900206;21909357;22006925;21288888;19322201;21543492;21909839;22158968;22581228;22863734;23088713;15004239;22649008;22761998 10253 O43597 ABBA01021702;AF039843;AL354668;AL713749;AMYH01005234;BC004205;BC015745;BX648582;CH471093;NM_005842 AAC04258;AAH04205;AAH15745;CAD28524;CAL37872;CAL38475;EAW80601;NP_005833;O43597 Hs.18676 1711166;1712250;1797184;2140480 G54033;RH44769;SHGC-85326;SPRY2 MGC23039;hSPRY2 OTTHUMP00000018543;protein sprouty homolog 2;sprouty 2;spry-2 APPROVED protein-coding ENSG00000136158 11270 03916 602466 REVIEWED 1602855 SPRYD3 SPRY domain containing 3 12 12 12 q13.13 53105994 53121098 - 51744665 51759405 - 53458100 53473204 - 6480464 14702039;12477932;9110174;8619474;16344560;19615732;21139048;21890473;21906983 84926 B7Z1Y3;F8VWW7;H0YI85;Q8NCJ5 ABBA01008313;AC068888;AC073573;AF131774;AK027706;AK074566;AK074694;AK294092;AMYH01004477;BC019624;BC136312;CA427084;CH471054;DA389433;NM_032840 AAI36313;BAB55311;BAC11064;BAC11144;BAH11669;EAW96661;EAW96662;EAW96663;NP_116229;Q8NCJ5 Hs.343334 1747715;1855641;2136935;2137587;2157446;2159902 BCD2163;G64237;RH11261;RH44510;WI-21011;WIAF-1662 FLJ14800 OTTHUMP00000242821;OTTHUMP00000242823;SPRY domain-containing protein 3 protein-coding ENSG00000167778 25920 08603 VALIDATED 1603522 SPRYD4 SPRY domain containing 4 12 12 12 q13.3 56515670 56518138 + 55148629 55150067 + 56862301 56864769 + 6480464 17852359;16344560;15489334;12477932;20877624;22286219;22916037 283377 B4DUC9;Q8WW59 ABBA01008424;AC097104;AF289571;AF451989;AK074733;AK291920;AK300594;AL832247;AMYH01004505;BC020844;BX647957;CH471054;CS072397;DB041397;NM_207344 AAH20844;AAL55755;AAP97688;BAF84609;BAG62291;CAI93535;EAW96941;NP_997227;Q8WW59 Hs.128676 1676976;1687690;2114816;2185319 A006P42;RH70287;RH93044;RH93492 DKFZp686N0877 SPRY domain-containing protein 4 protein-coding ENSG00000176422 27468 11251 VALIDATED 1313077 SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008] 1 1 q21 156847120 156923130 - 158580496 158656506 - 1599111;1580863;6480464;7240710 3597773 14625392;9573679;9414314;9192783;9163587;9075575;9005995;8844207;8626479;8486776;8434258;8364215;8226774;8193371;8102379;8094577;8040317;8018926;7929303;7883966;7772539;7104494;6654896;6654895;6472478;6215583;3600811;3580577;3458204;3268039;3027087;3000887;2936753;2807277;2794061;2568862;2568861;2384601;2346784;2070088;2056132;1878597;1845156;1689726;1679439;1672285;1638030;1541680;1391962;1339473;12119179;8997639;1991513;2971657;1634521;9593709;12820899;10950304;379653;19008453;18815189;18218854;17977835;17905835;17885671;17414207;16841024;16551696;16407147;16336193;16171554;16150946;15795915;15492010;15456760;15310273;15203218;12432217;12196550;12105217;11165260;10852813;10551855;10215350;10187839;9889281;12571280;22197999;11856323;12049649;19593814;19747366;19807924;19862010;20379614;8493579;20585040;20858683;20807499;21412925;16461343;18548008;21080425;23200054;15161933;16051665;21890473;22164239;23106098;23373410;23222517;19380743;22727745 6708 O60686;P02549 ABBA01016625;AF060556;AL353894;AMYH01001443;AY138967;BU665064;CD616351;CH471121;M11049;M13233;M29994;M61826;M61877;NG_011474;NM_003126 AAA53103;AAA60569;AAA60575;AAA60577;AAA60994;AAC15757;AAI56497;AAI72497;EAW52816;EAW52817;EAW52818;EAW52819;NP_003117;P02549 Hs.119825 1662375;1698128;1741615;1742093;1742351;1849622;2106641;2140161;2149895;2165637 D1S3249;G15944;GDB:181583;GDB:191077;GDB:196442;RH102597;RH65132;RH68459;RH69635;SPTA1__5309 EL2;HPP;HS3;SPH3;SPTA OTTHUMP00000021115;OTTHUMP00000021116;alpha-I spectrin;erythroid alpha-spectrin;spectrin alpha chain, erythrocyte;spectrin alpha chain, erythrocytic 1 APPROVED protein-coding ENSG00000163554 11272 01685 130600;182860;266140;270970 REVIEWED 1603193 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 This gene encodes encodes a suppressor of cytokine signaling (SOCS) family member, and it belongs to the subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal SOCS box. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 12 12 12 p13.31 8597386 8599808 - 6850360 6852713 - 6980099 6982521 - 6480464 15489334;12477932;12076535;9074930;8723724;15713673;17213182;19159283;19609018;15601820;21832049;20603330;21199876;21549100;20561531 84727 B7Z4W1;E5RIC2;Q99619 ABBA01017662;AF403027;AK297963;AK310353;AMYH01004209;BC002983;BC071933;BE619211;CH471116;DT220163;NG_013308;NM_001146316;NM_032641;U47924 AAB51328;AAH02983;AAH71933;AAL57346;ADZ15862;BAH12697;EAW88719;EAW88720;NP_001139788;NP_116030;Q99619 Hs.479856 2113994;2126821;2180598;5092778 D1S3365;G32324;STS-M10036;TPI1 FLJ17395;GRCC9;MGC2519;SSB-2;SSB2 OTTHUMP00000225007;OTTHUMP00000225008;SPRY domain-containing SOCS box protein 2;SPRY domain-containing SOCS box protein SSB-2;gene-rich cluster protein C9 APPROVED protein-coding ENSG00000111671 29522 13610 611658 REVIEWED 1315052 SPRYD7 SPRY domain containing 7 13 13 13 q14 31541570 31565352 - 49384843 49408477 - 50486842 50510626 - 6480464 16344560;16341674;15489334;15057823;12665801;12477932;12010815;11771308;11306461;9110174;8619474;16196087;21139048;21890473;21906983;21963094 57213 Q5W111 ABBA01051027;ABBA01051028;ABBA01051029;AF052154;AF055016;AF334405;AK290576;AK308818;AK316576;AL136123;AMYH01005111;BC007076;BC022519;BM828692;CH471075;CS185647;DA388141;DN992366;NM_001127482;NM_020456;NR_023351 AAC09363;AAH22519;AAK38371;BAF83265;BAG38165;CAJ42828;EAX08840;EAX08841;EAX08842;EAX08843;NP_001120954;NP_065189;Q5W111 Hs.44235 1648593;5022578;5024798;5037552 17663ft;D13S1168;D1S1423;D8S2279 C13orf1;CLLD6 CLL deletion region gene 6 protein;OTTHUMP00000018428;OTTHUMP00000018429;SPRY domain-containing protein 7;chronic lymphocytic leukemia deletion region gene 6 protein APPROVED protein-coding ENSG00000123178 14297 08486 607866 VALIDATED 1603939 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 16 16 16 p13.3 2038990 2044859 - 1766714 1772582 - 1826713 1832581 - 6480464 15489334;12477932;12076535;11157797;21145461;20532202;16341674;21199876;21890473;15713673 90864 Q6PJ21;Q96LS6 ABBA01030296;AC012180;AE006639;AF403028;AK057850;AK074190;AMYH01007040;BC007588;BC024244;BC035065;BC041897;BC047441;BC065515;BI768095;BM836743;BQ930544;CH471112;NM_080861 AAH07588;AAH24244;AAH41897;AAH47441;AAK61293;AAL57347;BAB71594;EAW85618;EAW85619;EAW85620;EAW85621;EAW85622;EAW85623;EAW85624;NP_543137;Q6PJ21 Hs.592080 1662192;1697474;1698906 RH102238;RH103022;SHGC-57507 C16orf31;SSB3 SPRY domain-containing SOCS box protein 3;SPRY domain-containing SOCS box protein SSB-3 protein-coding ENSG00000162032 30629 18107 611659 VALIDATED 1603370 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 3 3 3 q23 139194129 139290840 + 142253433 142350143 + 140770743 140867453 + 6480464 15489334;14702039;12477932;12076535;19159283;20379614;15713673;20561531;15601820;20603330;21199876;23041239 92369 H0Y8T2;Q96A44 ABBA01059052;AC022215;AC108727;AF086345;AF403029;AK056147;AK056367;AMYH01013542;BC008324;BC051354;CH471052;NM_080862 AAH08324;AAL57348;ADZ16085;BAB71165;EAW79010;NP_543138;Q96A44 Hs.655112 1658644;1660457;1698678;2181815;5022578 D1S1423;D3S4137;RH102898;SHGC-17816;SHGC-77274 SSB-4;SSB4 OTTHUMP00000217810;SPRY domain-containing SOCS box protein 4;SPRY domain-containing SOCS box protein SSB-4 protein-coding ENSG00000175093 30630 18108 611660 PROVISIONAL 1604788 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 1 1 1 p36.22 8462669 8539361 + 9275571 9352178 + 9352941 9429591 + 6480464 16710414;16498413;15713673;15489334;14702039;12477932;12076535;9110174;8619474;8125298;16344560;19683501;20379614;17207965;20308539;22491018;19159283;19322201;20561531;22658931;20603330;21199876;21549100;21906983;15601820;18449195;22939624;23064961;23438482 80176 A2A276;Q96BD6 AB209559;ABBA01035551;AF131840;AF403026;AK026046;AK130055;AK225417;AL008734;AL358252;AMYH01000239;BC005852;BC015711;CH471130;DB242202;NM_025106 AAH05852;AAH15711;AAL57345;ADQ31895;BAB15335;BAC85287;BAD92796;EAW71617;EAW71618;NP_079382;Q96BD6 Hs.738680;Hs.8261 1338286;1733156;1769094;1856748;7186355 D1S1465;D1S3275;D1S503;SHGC-74186 SSB-1;SSB1 OTTHUMP00000001398;SPRY domain-containing SOCS box protein 1;SPRY domain-containing SOCS box protein SSB-1;novel SPRY domain containing protein protein-coding ENSG00000171621 30628 18106 611657 VALIDATED 1322297 SPTBN5 spectrin, beta, non-erythrocytic 5 15 15 15 q21 18907986 18953916 - 39927636 39973567 - 42140344 42186275 - 1580863;6480464 10764729;18048348;12119179;19851296;20043139;20198315;20379614;8493579 51332 Q9NRC6 ABBA01038385;ABBA01038386;AC020659;AF233523;AMYH01006578;AMYH01006579;AMYH01006580;BF515053;CH471125;NM_016642 AAF65317;EAW92523;NP_057726;Q9NRC6 Hs.709819 1679948;1686134;1693564;1736504;1853410 D15S711E;RH79820;RH91785;SHGC-58472;WI-13757 BSPECV;HUBSPECV;HUSPECV beta V spectrin;beta-V spectrin;spectrin beta chain, brain 4;spectrin beta chain, non-erythrocytic 5;spectrin, non-erythroid beta chain 4 protein-coding ENSG00000137877 15680 10438 605916 VALIDATED 6480955 SPTLC1P1 serine palmitoyltransferase, long chain base subunit 1 pseudogene 1 10 31649884 31650144 + 100874511 ABBA01033400;AL117340;AMYH01002221;NG_032341 pseudo 39668 INFERRED 6480938 SPTLC1P2 serine palmitoyltransferase, long chain base subunit 1 pseudogene 2 6 23856791 23857046 - 100874498 ABBA01022314;AL139093;AMYH01016148;NG_032342 pseudo 39669 INFERRED 6480937 SPTLC1P3 serine palmitoyltransferase, long chain base subunit 1 pseudogene 3 6 63937388 63937648 + 100874499 ABBA01023966;AL450346;AMYH01016386;NG_032343 pseudo 39670 INFERRED 6480936 SPTLC1P4 serine palmitoyltransferase, long chain base subunit 1 pseudogene 4 1 152050428 152050689 + 100874500 ABBA01049409;AL591893;AMYH01001395;NG_032344 pseudo 39671 INFERRED 6480949 SPTLC1P5 serine palmitoyltransferase, long chain base subunit 1 pseudogene 5 13 78233548 78233808 + 100874512 ABBA01021665;AL450447;AMYH01005223;NG_032345 pseudo 39672 INFERRED 1312269 SPTBN4 spectrin, beta, non-erythrocytic 4 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 19 q13.13 37772697 37881418 + 45664966 45774205 + 40973126 41082365 + 1580863;6480464 11086001;11294830;12812986;17081983;16344560;14702039;12421765;11807096;10997877;12119179;12506198;19851296;20198315;20379614;8493579;21900206 57731 C9JRP8;C9JY79;M0QZQ3;M0R1V6;Q9H254 AB046862;ABBA01040759;ABBA01040760;ABBA01040761;ABBA01040762;ABBA01040763;ABBA01040764;ABBA01040765;ABBA01040766;ABBA01040767;ABBA01040768;ABBA01040769;ABBA01040770;ABBA01040771;ABBA01040772;ABBA01040773;ABBA01040774;ABBA01040775;AC020929;AF082075;AF311855;AF311856;AF324063;AF324064;AI962525;AK054915;AK308547;AK309418;AL133093;AMYH01009803;AMYH01009804;AMYH01009805;AMYH01009806;AY004226;AY004227;CH471126;DA514440;NG_029905;NM_020971;NM_025213 AAF93171;AAF93173;AAG38874;AAG42473;AAG42474;AAQ14859;AAQ14860;BAB13468;CAB61407;EAW56973;EAW56974;EAW56975;EAW56976;EAW56977;EAW56978;NP_066022;NP_079489;Q9H254 Hs.32706 1649879;1789270;1798220;2118192;2122176;2140288;5017436 A009D36;G67801;RH16416;RH46045;SHGC-33106;SPTBN4_2491;Spnb4 KIAA1642;QV;SPNB4;SPTBN3 beta-IV spectrin;betaIV spectrin;spectrin beta chain, brain 3;spectrin beta chain, non-erythrocytic 4;spectrin, non-erythroid beta chain 3 APPROVED protein-coding ENSG00000160460 14896 09372 606214 REVIEWED 731487 SPTBN2 spectrin, beta, non-erythrocytic 2 Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] 11 11 q13 66209299 66245446 - 66452720 66488870 - 1580863;6480464;7240710 19098307;10852813;9826670;18003973;17940722;17081983;16429157;15148151;12477932;12421765;11461920;9704016;9675416;9205841;7874171;12119179;11357136;20936779;15032605;20131405;20371805;21412925;22939629;22457146;21827906;22586326;21139048;21926972;23236289;21890473;23000965;23233669;21853274 6712 E9PJZ2;O15020 AB008567;ABBA01024065;ABBA01024066;AF026487;AF026488;AF079569;AMYH01003735;AP001157;BC122522;BC131819;BC139788;CH471076;NG_016150;NM_006946 AAC79502;AAC79503;AAC79504;AAC80006;AAI39789;AAI72438;BAA32700;EAW74559;EAW74560;EAW74561;NP_008877;O15020 Hs.26915 1793648;5113459 D11S703;PMC24343P1 GTRAP41;SCA5 OTTHUMP00000235546;OTTHUMP00000235547;beta-III spectrin;glutamate transporter EAAT4-associated protein 41;spectrin beta chain, brain 2;spectrin beta chain, non-erythrocytic 2;spectrin, non-erythroid beta chain 2;spinocerebellar ataxia 5 protein APPROVED protein-coding ENSG00000173898 11276 05404 600224;604985 REVIEWED 1349727 SPTB spectrin, beta, erythrocytic This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] 14 14 q23-q24.2 64282754 64359619 - 65213001 65289866 - 1599118;1580863;6480464;7240710 2056132 9890967;2141335;16060676;18029348;10950304;8226774;379653;19168783;19141864;18202182;17977835;17520478;16476728;15492010;15065869;14702039;14593108;12743109;12665801;12655374;12477932;12354383;12038451;11703334;11427698;11418000;10751147;10477754;10037687;9450796;9414314;9163587;9005995;8889548;8844207;8675627;8663089;8341682;8102379;8018926;7962054;7883966;7673158;7104494;6743699;6472478;6215583;3580577;3478706;3390609;2346784;2243099;2209094;2195026;2070088;1976574;1975598;1840591;1634521;1391962;12119179;10867799;12820899;15146197;19538529;19910543;20164196;20379614;20459687;8493579;20724481;15929114;21412925;22939629;15161933;21738695;21890473;23000965;22360420;21139048;22164239;8159688;23251661;23061666 6710 H0YJE6;P11277;Q59FP5;Q86TX9 AB209415;ABBA01018368;ABBA01018369;ABBA01018370;AF013172;AF013173;AF013174;AF013177;AF013178;AF013181;AF013184;AF013187;AF465439;AK094815;AK126627;AL121774;AMYH01005800;AMYH01005801;BC010434;BC136284;BC136285;BM681142;BX248270;CH471061;CN370674;J05500;M18054;M37884;M37885;M57948;NG_016202;NM_000347;NM_001024858;X59510;X59511 AAA60571;AAA60572;AAA60578;AAA60579;AAA63259;AAC02786;AAC02787;AAC02788;AAC02789;AAC02790;AAC02791;AAC02792;AAC02793;AAI36285;AAI36286;AAL73492;BAD92652;CAA42097;CAA42098;CAD62598;EAW80875;EAW80876;EAW80877;EAW80878;EAW80879;EAW80880;EAW80881;EAW80882;NP_000338;NP_001020029;P11277 Hs.417303 1666269;1677356;1690442;1739411;1744173;2125131;2134465;2139178;2169597;2180971;5037552;5124200 D14S1213;D14S1306;D14S817E;D14S830;D8S2279;GDB:434768;RH36893;RH44911;RH68567;RH91150;RH91388;u00828 EL3;HS2;HSpTB1;SPH2 OTTHUMP00000246401;OTTHUMP00000246404;beta-I spectrin;membrane cytoskeletal protein;spectrin beta chain, erythrocyte;spectrin beta chain, erythrocytic APPROVED protein-coding ENSG00000070182 11274 01686 182870 REVIEWED 1315336 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013] 9 9 q22.2 93833248 93917511 - 94793427 94877690 - 1580863;6480464;6907045;7240710 19416851;18484747;18018475;17982236;17353931;17331073;17194770;16210380;15467453;15164053;15037712;14152213;12477932;12445191;11479835;11242114;11242106;10722759;10722674;10713067;9363775;20634891;19132419;19362163;19592499;19651702;19923297;20097765;20182505;20562859;20301564;21618344;17314511;17110338;21963094;23000965;21987572;21139048;21890473;21906983;21857022;22688191;16344560;23455922;22302274;22505724;22797925 10558 O15269;Q6NUL7 AB209757;ABBA01018581;ABBA01018582;AF147304;AF286717;AK098344;AK291546;AK299153;AK309775;AL354751;AL391219;AMYH01021508;BC007085;BC068537;CH471089;DA305642;EC564300;NG_007950;NM_001281303;NM_006415;NM_178324;Y08685 AAH07085;AAH68537;AAK29328;BAD92994;BAF84235;BAG61202;CAA69941;EAW62804;EAW62805;EAW62806;NP_001268232;NP_006406;NP_847894;O15269 Hs.90458 1767755;1767757;1774679;2147455;5022322;5022450;5022651;5024685;5037552;5109281;5112017 A001U11;D10S275;D11S2560;D11S2921;D1S1425;D8S2279;D9S1996;G17347;G19655;G44365;RH26813 HSAN;HSAN1;HSN1;LBC1;LCB1;MGC14645;SPT1;SPTI;hLCB1 LCB 1;OTTHUMP00000022810;OTTHUMP00000022811;SPT 1;long chain base biosynthesis protein 1;serine C-palmitoyltransferase;serine palmitoyltransferase 1;serine-palmitoyl-CoA transferase 1 APPROVED protein-coding ENSG00000090054 11277 05754 162400;605712 REVIEWED 733239 SPTAN1 spectrin, alpha, non-erythrocytic 1 Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] 9 9 q34.11 130354687 130435762 + 131314837 131395944 + 1580863;6480464;7240710 10579058;10576550;10551855;10521589;9890967;9811849;9670010;9642272;9593709;9209005;8993318;8663089;8163551;7642559;7607240;3691949;3336352;3121319;3038643;3027087;2971657;2970468;2939097;2141335;1905928;1902666;492324;12119179;11441066;16169070;11401546;12571280;14623284;10571082;2307671;9624143;19454697;19217883;19102630;19034380;18978357;17081983;16889989;16192640;16106752;15948206;15673434;15656790;15489334;15342556;15302935;15164053;14702039;14593108;12893251;12820899;12630566;12477932;12446661;12049649;12044158;11971983;11509555;11274145;11069925;10874042;10862698;10625438;20518497;10402491;19913121;20628086;8275706;20936779;20493457;15328537;17088250;17643375;18029348;20011051;20379614;20381070;8493579;20408766;21182205;22863883;22939629;23398456;23536563;23077236;23084401;23184937;17620012;18550849;20811636;22656320;16944923;19167051;17620599;22586326;12202484;16263121;19805454;20706999;23000965;23246001;17043677;21139048;21890473;21900206;21906983;21575865;22163289;21145461;21319273;22258530;19380743;22174317;22952844 6709 A6NG51;Q9P0V0 AB191262;AB209860;ABBA01043888;ABBA01043889;ABBA01043890;ABBA01043891;AF148808;AK026484;AK126576;AK294753;AK300386;AK307676;AK309836;AK310696;AL110273;AL356481;AMYH01021748;BC034956;BC051801;BC053521;BP200529;CH471090;DC359079;J05243;M18627;M19725;M24773;NG_027748;NM_001130438;NM_001195532;NM_003127;U26396;U83867;X86901 AAA51702;AAA51790;AAA52468;AAA59904;AAB41498;AAB60364;AAF26672;AAH53521;BAD52438;BAD93097;BAG57892;BAG62120;CAA60503;CAB53710;EAW87805;EAW87806;EAW87807;EAW87808;EAW87809;EAW87810;EAW87811;EAW87812;EAW87813;NP_001123910;NP_001182461;NP_003118;Q13813 Hs.372331 1673358;1679069;1698966;1730129;1777124;2118741;2128860;2130968;2170485;5015861 A006J25;D10S16;D9S1671E;D9S183E;G17287;G28277;RH103052;RH12836;RH36410;SHGC-8025 (ALPHA)II-SPECTRIN;EIEE5;FLJ17738;FLJ44613;NEAS;SPTA2 OTTHUMP00000022283;OTTHUMP00000022284;alpha-II spectrin;alpha-fodrin;alpha-spectrin 2;fodrin alpha chain;non-erythrocytic spectrin alpha;spectrin alpha chain, brain;spectrin alpha chain, non-erythrocytic 1;spectrin, alpha, non-erythrocytic 1 (alpha-fodrin);spectrin, non-erythroid alpha chain;spectrin, non-erythroid alpha subunit APPROVED protein-coding ENSG00000197694 11273 01684 182810;613477 REVIEWED 6766625 SPTY2D1-AS1 SPTY2D1 antisense RNA 1 11 18621351 18631802 + 14702039 100506540 ABBA01061051;AC112694;AK097654;AMYH01003428;NR_038360 Hs.585529 APPROVED miscrna ENSG00000247595 44122 VALIDATED 1354205 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011] 14 14 q24.3 77043023 77152863 - 77972340 78083110 - 1580863;6480464;6907045;7240710 10737800;19416851;17331073;17194770;17081983;15489334;12508121;12477932;12445191;12207934;10722674;9628581;9363775;8921873;8889549;7506601;20920666;20877624;16147992;21139048;21890473;21906983;23658386 9517 H0YJ96;H0YJV2;O15270 AB011098;ABBA01030647;AF111168;AMYH01005883;AMYH01005884;BC005123;BG024616;BM992457;BQ338973;CH471061;NG_028282;NM_004863;U15555;W24363;Y08686 AAC50871;AAD09621;AAH05123;ABM84223;ABM87785;BAA25452;CAA69942;EAW81297;EAW81298;EAW81299;NP_004854;O15270 Hs.435661 1334910;1648504;1667623;1672979;1783024;2116493;2122956;2123458;2136284;2136335;2137348;2156758;2156907;2168174;2175225;2183707;5020740;5021228;5024413;5037552 A002Y12;D14S59;D14S843;D14S929;D8S2279;G35447;G35451;G35466;G35529;G35534;G36021;GDB:312794;L17809;L17877;RH11203;RH17530;RH70479;SHGC-132736;SHGC-30760;SHGC-35537 HSN1C;KIAA0526;LCB2;LCB2A;NSAN1C;SPT2;hLCB2a LCB 2;LCB2a;OTTHUMP00000246380;OTTHUMP00000246382;SPT 2;long chain base biosynthesis protein 2;long chain base biosynthesis protein 2a;serine palmitoyltransferase 2;serine palmitoyltransferase, subunit II;serine-palmitoyl-CoA transferase 2 APPROVED protein-coding ENSG00000100596 11278 05755 605713;613640 REVIEWED 1351608 SPTBN1 spectrin, beta, non-erythrocytic 1 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p21 54536958 54752087 + 54683454 54898583 + 1580863;6480464;6484113 1527002;18704924;18487259;18445777;18262053;17905835;17716929;17620337;17546056;17088250;17081983;17074766;16083285;15345747;15342556;15324660;15310273;15302935;15262991;15231748;14702039;12901833;12543979;12522145;12477932;11665863;11535133;11274145;10806113;9989581;9537418;19079262;9817844;9798950;9164454;8991093;8889548;8688828;8406479;2474519;12119179;10576550;11069925;15116094;15688033;20554715;20588308;21412925;17082780;20886430;16247473;18614564;20936779;12820899;16169070;19801982;20200978;20379614;8493579;16159877;20739274;21182205;22863883;10571082;23077236;23084401;23184937;21252943;17000644;22939629;19167051;17620599;22586326;22685421;21628590;17043677;19596686;21139048;21890473;21906983;22108332;21145461;21319273;19738201;21963094;22504420;23000965;23246001;12202484;18548008;22798246;23398456;19380743;22174317;22505724;22952844;22771809 6711 B2ZZ89;F8W6C1;Q01082 AB209551;AB209748;AB371586;ABBA01075254;ABBA01075255;ABBA01075256;ABBA01075257;AC092839;AC093110;AF218848;AF327441;AJ005694;AJ238723;AK023762;AK025071;AK093946;AK295570;AL117605;AMYH01010359;AMYH01010360;AMYH01010361;BC009640;BC032061;BC137282;BC137283;BM679686;BP218428;BP312037;CH471053;CR980403;HI573966;HI573968;JQ599728;NG_029817;NM_003128;NM_178313;S65762 AAB28324;AAI37283;AAI37284;AAL56651;AAO15362;AAX93104;AAY24229;AFX60968;BAD92788;BAD92985;BAG48315;BAG58470;CAA06678;CAB91088;CBX47472;CBX47473;EAX00137;EAX00138;EAX00139;EAX00140;EAX00141;EAX00142;EAX00143;EAX00144;EAX00145;EAX00146;EAX00147;NP_003119;NP_842565;Q01082 Hs.503178;Hs.705692 1340766;1676079;1713637;1721055;1734832;1739105;1768587;1798218;1858130;2124848;2128259;2129192;2144272;2156696;2160658;2174621;2176230;5109591 Cda10d06;D2S1576E;D2S1586E;D2S2153;D2S2825;D7S2262;G31089;G59509;RH11563;RH120699;RH48838;RH69548;RH80117;SHGC-31423;SHGC-35870;SPTBN1__1999;WI-12526;WI-16857 ELF;SPTB2;betaSpII OTTHUMP00000165176;OTTHUMP00000165178;beta-G spectrin;beta-II spectrin;beta-fodrin;beta-spectrin 2;beta-spectrin II;beta-spectrin non-erythrocytic 1;embryonic liver beta-fodrin;fodrin beta chain;spectrin beta chain, brain 1;spectrin beta chain, non-erythrocytic 1;spectrin, non-erythroid beta chain 1 APPROVED protein-coding ENSG00000115306 11275 01683 182790 REVIEWED 1351339 SPTLC3 serine palmitoyltransferase, long chain base subunit 3 The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] 20 20 20 p12.1 13059733 13217481 + 12937627 13095411 + 12989627 13147411 + 1580863;6480464;6907045 19416851;17331073;17023427;16303743;15489334;14702039;12477932;11780052;19913121;20628086;20920666;19648650;19798445;20037589;20379614;21368711;22359512;23192594 55304 B1AKS2;B1AKS3;C9JC36;H0Y733;Q8N2H1;Q9NUV7 ABBA01053957;ABBA01053958;ABBA01053959;AK001974;AK075271;AK300184;AL050320;AL109983;AL133331;AL445589;AL844429;AMYH01011720;BC005205;BC020656;BC038248;BC150644;CF994231;CH471133;CX870585;NM_018327 AAH05205;AAH20656;AAI50645;BAA92012;BAC11509;BAG61962;CAI13234;CAI13236;CAM16427;EAX10322;EAX10323;NP_060797;Q9NUV7 Hs.425023 1645113;1650005;1667541;1669442;1673891;1729491;1729495;1774505;2116204;2117009;2129510;2130492;2152038;2155015;2172674;5024169;5093716 A006P19;A009V27;D20S131E;D20S56;D20S58;D2S2887;G18103;G27414;G32882;RH48472;RH68830;SHGC-33870;SHGC-36445;WI-17312;Z94369;Z94384;Z94711 C20orf38;FLJ11112;FLJ90790;LCB2B;LCB3;SPT3;SPTLC2L;dJ718P11;dJ718P11.1;hLCB2b LCB 3;LCB2b;OTTHUMP00000162419;SPT 3;long chain base biosynthesis protein 2b;long chain base biosynthesis protein 3;serine palmitoyltransferase 3;serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2);serine-palmitoyl-CoA transferase 3 APPROVED protein-coding ENSG00000172296 16253 12765 611120 VALIDATED 1605564 SPTSSB serine palmitoyltransferase, small subunit B Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] 3 3 3 q26.1 159484918 159512206 - 162545274 162572565 - 161062580 161089871 - 6480464 19416851;15777716;15489334;12477932 165679 Q6ZWB5;Q8NFR3 ABBA01058788;ABBA01058789;AC112491;AF458592;AK123348;AK312144;AMYH01013616;BC037817;BC065208;BC071875;BC107756;BC126236;BU950276;BU950567;CH471052;NM_001040100 AAH65208;AAH71875;AAI07757;AAI26237;AAM49720;BAC85589;BAG35080;EAW78615;EAW78616;EAW78617;NP_001035189;Q8NFR3 Hs.369104;Hs.704270 1784628;2113730;2218188;5493461;5493837 AB050536;ADMP__4258;SHGC-112362;UniSTS:486515;UniSTS:495251 ADMP;C3orf57;MGC104229;SSSPTB OTTHUMP00000214011;OTTHUMP00000214012;androgen down regulated in mouse prostate;likely ortholog of androgen down regulated gene expressed in mouse prostate;serine palmitoyltransferase small subunit B;small subunit of serine palmitoyltransferase B APPROVED protein-coding 24045 16476 610412 VALIDATED 1350858 SPTSSA serine palmitoyltransferase, small subunit A Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] 14 14 14 q13.1 14767183 14796506 - 33971895 34001219 - 34902144 34931468 - 6480464 19416851;15489334;14702039;12477932;16169070;17207965;21103663;19322201 171546 Q969W0 ABBA01061454;ABBA01061455;ABBA01061456;AI765163;AK001993;AK315409;AL080066;AL356806;AMYH01005653;AMYH01005654;BC016805;BC016808;BC021701;BC068480;CH471078;NM_138288 AAH16805;AAH16808;AAH21701;AAH68480;ADQ32400;BAG37801;EAW65923;EAW65924;NP_612145;Q969W0 Hs.740577 1698856;2115278;2177673 G36287;RH102993;WI-16004 C14orf147;MGC24447;SSSPTA OTTHUMP00000178807;serine palmitoyltransferase small subunit A;small subunit of serine palmitoyltransferase A APPROVED protein-coding ENSG00000165389 20361 16610 613540 VALIDATED 1603901 SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 11 11 11 p15.1 18762827 18790934 - 18584524 18612596 - 18627948 18656020 - 6480464 14702039;12477932;22939629;16196087;21139048;20686565 144108 Q8N8I3 ABBA01061051;AC112694;AF086471;AF452716;AK096694;AK096760;AK304078;AL834393;AMYH01003428;BC036844;BC056261;BX538046;BX641102;BX647798;BX648114;BX648478;CH471064;CR749626;NM_194285 AAH36844;AAH56261;AAP13351;BAC04858;BAG64985;CAD39055;CAD97985;CAE46047;CAH10772;CAH18420;EAW68374;NP_919261;Q68D10 Hs.268668;Hs.738650 1644014;1675784;1676492;1856873;2183982;5015619;5015961;5016851;5037552 D11S2378;D11S3114;D15S1477;D8S2279;RH16432;RH80031;RH94100;STS-H94880;STS-R07743 DKFZp686F1942;DKFZp686I068;FLJ39441 OTTHUMP00000236671;SPT2 domain-containing protein 1;protein SPT2 homolog protein-coding ENSG00000179119 26818 13436 VALIDATED 1606768 SPZ1 spermatogenic leucine zipper 1 This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011] 5 5 5 q14.1 75517111 75518982 + 79651599 79653417 + 79615790 79617661 + 6480464 15899793;15829580;15489334;15372022;15226296;14702039;12778315;12477932;11165476;20211142;21832049;18029348 84654 D6RFL8;Q9BXG8 ABBA01062033;AC026410;AF333098;AI138399;AK098575;AK314007;AMYH01015445;BC033798;BG723698;BU853967;CH471084;NG_030332;NM_032567 AAH33798;AAK17995;ABM83049;ABM86243;BAC05340;BAG36718;EAW95847;EAW95848;NP_115956;Q9BXG8 Hs.519403 1679890 RH92182 FLJ25709;NYD-TSP1 OTTHUMP00000222233;OTTHUMP00000222234;spermatogenic leucine zipper protein 1;spermatogenic zip 1;testis-specific protein 1;testis-specific protein NYD-TSP1 APPROVED protein-coding ENSG00000164299 30721 15440 REVIEWED 736675 SQLE squalene epoxidase Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008] 8 8 q24.1 126079901 126103707 + 126010720 126034525 + 1581398;1581399;1580863;1300048;2316857;6480464 14684588;16876788 15489336;10666321;9286711;18728668;18660489;17316888;16806233;16381901;14702039;12477932;12083769;11230166;11076863;8626488;8125298;19913121;20628086;21139048;21890473;21906983 6713 E5RJH9;E7EVQ6;H0YBN7;Q14534;Q5HYI4;Q9UNR6 ABBA01037907;ABBA01037908;AC009908;AF098865;AK055357;AK225085;AK295302;AK301792;AK313384;AMYH01019010;BC017033;BG772453;BX647400;BX647605;CH471060;D78129;D78130;FJ695197;NM_003129 AAD10823;AAH17033;ABM85583;BAA11209;BAA22372;BAG36182;BAG58282;BAG63246;CAI46076;CAL38441;EAW92079;NP_003120;Q14534 Hs.71465 1739987;1772245;2122348;2124980;2139236;2162259 A004A38;D8S1067;D8S1682;RH15879;RH48094;RH48389 FLJ30795 OTTHUMP00000228145;OTTHUMP00000228146;SE;squalene monooxygenase APPROVED protein-coding ENSG00000104549 11279 11802 602019 REVIEWED 1353757 SQRDL sulfide quinone reductase-like (yeast) The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012] 15 15 15 q15 22818429 22874655 + 43714548 43770771 + 45923346 45983492 + 1580863;6480464 15489334;12477932;10810093;10224084;8125298;16344560;18494801;20398623;21410200;20966902;18029348;20877624;22852582;22939629;17314511;22118674;17110338;21565611;22304920;23251661;23438482;18729074;22797925 58472 H3BMS6;H3BNP9;H3BT21;H3BUD7;H3BV36;Q9Y6N5 ABBA01039173;ABBA01039174;ABBA01039175;AC090527;AF042284;AF118085;AF151802;AI240325;AK130140;AK222463;AK313111;AMYH01006621;BC016836;CH471082;DA821218;NM_001271213;NM_021199 AAD34039;AAD41160;AAF22029;AAH16836;ABM82372;ABM85551;BAD96183;BAG35933;EAW77319;EAW77321;EAW77324;EAW77326;EAW77328;NP_001258142;NP_067022;Q9Y6N5 Hs.511251;Hs.743355 1708778;1736484;2179187;5015378 D15S695E;RH1639;SHGC-77875;WI-20121 CGI-44;PRO1975 OTTHUMP00000162198;sulfide dehydrogenase like;sulfide:quinone oxidoreductase, mitochondrial APPROVED protein-coding ENSG00000137767 20390 18102 REVIEWED 1602705 SRBD1 S1 RNA binding domain 1 2 2 2 p21 45454104 45676639 - 45469324 45691907 - 45615819 45838433 - 6480464 19240061;16344560;14702039;12477932;9847074;19615732;20363506;20379614;22939629;19471022;21139048;19322201;22174317 55133 B7Z6X7;Q8N5C6 ABBA01075126;ABBA01075127;ABBA01075128;ABBA01075129;AC008179;AC012072;AK001241;AK055896;AK056536;AK301122;AK316222;AMYH01010309;AMYH01010310;BC032538;CH471053;DA235970;NM_018079 AAH32538;AAK52078;AAY14821;ADZ15470;BAA91577;BAG51740;BAH13413;BAH14593;EAX00260;EAX00261;NP_060549;Q8N5C6 Hs.14229 1335457;1336318;1645520;1674125;1717855;1718631;1727019;1756257;2117499;2134243;2148599;2183047;5022578;5109583 A004I23;D1S1423;D2S1535E;D2S2280;D2S2291;D2S2889;G29203;G62907;RH122759;RH123001;RH69329;SHGC-11647;SHGC-143158;STS-T95475 FLJ10379 H_NH0576F01.1;OTTHUMP00000159028;S1 RNA-binding domain-containing protein 1;WUGSC:H_NH0576F01.1 protein-coding ENSG00000068784 25521 07669 VALIDATED 1353576 SRA1 steroid receptor RNA activator 1 Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012] 5 5 q31.3 139909837 139917862 - 139929652 139937678 - 5128512;6480464;7240710 16394250 14517287;12565891;10199399;19188450;19064678;19064572;18950845;18827892;18676680;17702747;16848684;16773180;16607388;16540468;16152589;15607539;15498874;15489334;15351741;15327771;15180993;15147866;14715875;14702039;12943696;12909012;12477932;12444263;12163482;12118039;11818499;11250900;11103781;10485452;11331609;11438648;20677014;16169070;19625176;19692168;19740422;20079837;20153324;20966046;20219889;19483093;20855289;22939629;16344560;20398657;21771633;21790861;21807064;21906983;22362738;22998747 10011 Q9HD15;R4GMW4 ABBA01026426;AC011399;AF092038;AF293024;AF293025;AF293026;AF318361;AI140060;AK024640;AK054960;AMYH01015659;BC040043;BC067895;BQ052761;BU553214;CH471062;CX165918;DA311407;DQ286291;NG_031847;NM_001035235;NM_001253764;NR_045586;NR_045587 AAG02114;AAG02115;AAG02116;AAH40043;AAI52789;AAI56761;AAL55868;BAG51445;EAW62051;EAW62052;NP_001030312;NP_001240693;Q9HD15 Hs.653135 1718619;1740445;1740459;1760301;1773644;1792936;2107839;2121066;2149648;2153349;2158575 A007D18;APBB3_9088;D5S2251E;D5S2258E;PMC170950P4;RH122995;RH16024;RH45891;SGC30750;SHGC-132909;SHGC-56860 MGC87674;SRA;SRAP;STRAA1;pp7684 OTTHUMP00000224323;steriod receptor RNA activator 1;steriod receptor RNA activator protein;steroid receptor RNA activator 1;steroid receptor RNA activator 1 (complexes with NCOA1);steroid receptor RNA activator protein;steroid receptor coactivator APPROVED protein-coding ENSG00000213523 11281 18716 114290;603819 REVIEWED 1353477 SRD5A1P1 steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) X X X q24-qter 138894509 138896663 + 138356541 138358898 + 138528978 138531132 + 1686016 6719 ABBA01066029;AL008713;AMYH01023057;BX470592;M68887;NR_028597 Hs.730315 2176631;5094458 G54809;WI-18821 DKFZp686G24110;SRD5AP1 APPROVED pseudo 11286 PROVISIONAL 1315886 SRCRB4D scavenger receptor cysteine rich domain containing, group B (4 domains) The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004] 7 7 7 q11.23 70887164 70907528 - 75856582 75876948 - 76018646 76039012 - 1580863;6480464 12477932;12466895;20237496;21555518 136853 Q8WTU2 ABBA01005915;ABBA01005916;AC005522;AJ306912;AJ306913;AJ306914;AJ306915;AJ306916;AJ306917;AJ306918;AJ306919;AJ306920;AJ306921;AJ312755;AK172783;AMYH01017565;AMYH01017566;BC015651;BC113840;CH471220;NM_080744 AAH15651;AAI13841;AAI67843;ADZ15670;BAD18764;CAC84764;CAC88128;EAW71806;NP_542782;Q8WTU2 Hs.567684 1340350;2106645;7186921 D7S2470;SRCRB4D__5312 S4D-SRCRB;SRCRB-S4D;SSC4D OTTHUMP00000161135;S4-SRCRB;scavenger receptor cysteine-rich domain-containing group B protein;scavenger receptor cysteine-rich protein SRCRB-S4D APPROVED protein-coding ENSG00000146700 14461 06364 607639 PROVISIONAL 736484 SQSTM1 sequestosome 1 This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009] 5 5 q35 179180503 179197684 + 179233388 179265078 + 1599121;6480464;6484113;7240710 11992264 16751776;8650207;16189514;18083104;14676191;12857745;8702753;19557423;19427028;19282458;19257822;19074260;19067022;19049332;19020788;19016598;19010391;18992722;18984666;18776740;18653543;18543015;18457658;18442140;18379713;18379439;18083707;17932931;17931355;17685470;17580304;17237936;17229007;17187080;17120186;17081983;16964243;16820172;16691492;16574459;16565220;16405664;16344560;16286508;16169070;16129434;16083285;16079148;16011831;15953362;15911346;15870274;15802564;15761153;15647816;15592455;15493999;15489334;15340068;15207768;15176995;15164150;15158159;15146436;15125799;14702039;14692700;14584883;12887891;12869526;12857950;12813044;12727313;12700667;12477932;12471037;12431995;12374763;12242277;12034707;11981755;11852044;11786419;11755531;11473345;11447312;11244088;10747026;10708586;10362795;10356400;9762895;9566925;8910285;8618896;8551575;17898222;18174161;17052185;21517082;19285159;22322858;22792322;22797925;20452972;20639871;20573959;10022904;12787561;15721744;16252010;16630834;16874300;16997282;19004011;19071211;19197142;19250911;19398892;19481605;19589897;19615732;19812211;19816510;19850933;19903815;20018885;20098416;20103647;20200946;20230821;20357094;20378532;20379614;20499339;9252186;20971078;20168092;20562859;20421418;21062285;21073987;19780870;20204693;16159877;20061786;20604804;20837465;21160040;21195346;21173155;20890124;20814791;21045561;20417604;22939629;22972638;23300799;23564079;23398456;21482715;17314511;20061800;21371883;16335966;21536669;21555518;21628531;21876553;22963397;18781797;20600853;21118398;21187718;22863883;23023376;14702098;23402259;23455922;23637164;21646350;21628417;16196087;21325881;21460636;21079414;21606687;22017874;19201866;19850743;20360068;21735147;21981924;15840729;18624398;21900206;21931693;21949121;22084127;20639865;21726808;21771882;21987572;22118674;22178386;19013454;22296116;15143057;15765181;18584184;19229298;19931284;20495340;21617041;21903097;21923101;21935636;22411133;22565157;22835604;21139048;21412052;21890473;21906983;21963094;22320446;22098537;21544590;21959292;22674379;22491873;22841931;23266528;22525272;20010802;20706999;20808283;21149568;21988832;22286270;23000965;23242280;23434281;23437331;23459205;17203973;19822672;9184228;22728060;18296712;22053931;22190034;22190037;22505724;22941224;22992334;22952826;22714671;23117207;23239879;23274085;23303844;23314748;23333919 8878 C9J6J8;C9JRJ8;D6RBF1;E3W990;E7EMC7;E9PFW8;Q13501 ABBA01010042;ABBA01010043;ABBA01010044;AC008393;AF060494;AI333228;AK025146;AK094484;AK098077;AK226167;AK293509;AK304877;AK312451;AMYH01015959;AMYH01015960;BC000951;BC001874;BC003139;BC005857;BC017222;BC019111;BC050631;BI549805;BM800056;BU625974;CH471165;DA541885;DC398116;DQ581944;NG_011342;NM_001142298;NM_001142299;NM_003900;U41806;U46751 AAA93299;AAC52070;AAC64516;AAH00951;AAH01874;AAH03139;AAH17222;AAH19111;ABM83804;ABW03518;BAG35358;BAG53577;BAG56993;BAG65614;EAW53786;EAW53787;NP_001135770;NP_001135771;NP_003891;Q13501 Hs.724025 1657893;1677190;1685453;1740409;1740517;1740867;1776934;1856023;2108523;2120717;2154130;2162845;5020274;5113613 A002O27;A008T21;D11S4452;D5S2223E;D5S2306E;L18441;RH18060;RH70719;RH91868;RH98565;SHGC-182;SHGC-33017;SQSTM1_8870;STS-Z40707 A170;OSIL;PDB3;ZIP3;p60;p62;p62B EBI3-associated protein of 60 kDa;EBI3-associated protein p60;EBIAP;OTTHUMP00000198118;OTTHUMP00000198119;OTTHUMP00000223467;oxidative stress induced like;phosphotyrosine independent ligand for the Lck SH2 domain p62;phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa;sequestosome-1;ubiquitin-binding protein p62 APPROVED protein-coding ENSG00000161011 11280 03319 601530;602080 REVIEWED 1606779 SRCIN1 SRC kinase signaling inhibitor 1 17 17 17 q12 33347180 33423105 - 33939785 34015709 - 36686259 36762183 - 6480464 14657239;18475297;17525734;15822905;15489334;14702039;12477932;11214970;10625663;19146815;20453886;23383002 80725 F5H376;J3KRM1;J3KT41;Q9C0H9 AB051471;AB127405;ABBA01031914;ABBA01031915;ABBA01031916;ABBA01031917;ABBA01031918;ABBA01031919;AC006449;AC115090;AC129916;AK096097;AK126665;AK126676;AK295027;AMYH01008362;AMYH01008363;AMYH01008364;AMYH01008365;BC019717;BC029278;BC033233;BX648057;CH471152;NM_025248 AAH33233;AAI56057;AAI72455;BAB21775;BAC86634;BAD03968;BAG54357;BAG58083;EAW60518;NP_079524;Q9C0H9 Hs.448872 1729235;5015619;5126581 D11S3114;G62210;RH44305 KIAA1684;P140;SNIP P130Cas-associated protein;SNAP-25-interacting protein;SNAP25-interacting protein;SRC kinase signaling inhibitor 1;p140Cap APPROVED protein-coding ENSG00000017373 29506 11589 610786 VALIDATED 1350530 SRC v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q12-q13 35406502 35467235 + 35973088 36033821 + 1580863;1581139;1601371;1601372;1601373;1580850;1641809;2315078;2315083;2307340;2315076;1642762;2299174;2315077;2325284;2325012;5128669;4892084;6480464;6484113;6907045 14985360;9988270;16157790;15542065;12819032;17021051;17060931;19741150;19230846;19830888;14685170;18175071;19447874;18237558;20197063;17928626;20445128 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6714 P12931;Q9H7V3 ABBA01006617;ABBA01006618;ABBA01006619;AF077754;AF272982;AK024281;AK091756;AL034422;AL133293;AL390014;AMYH01011896;AMYH01011897;AW135290;BC011566;BC051270;CD364525;CH471077;CS566144;HY016645;K03218;M16243;NG_023033;NM_005417;NM_198291;X02647;Z18364 AAA60584;AAC29427;AAH11566;AAH51270;ACE86438;ACE87113;ADZ15582;BAB14871;CAA26485;CAN37623;EAW76062;EAW76063;EAW76064;EAW76065;EAW76066;EAW76067;NP_005408;NP_938033;P12931 Hs.195659 1337996;1655029;1681875;1754329;1767078;1791578;1796876;2137705;2178743;2190761;5014673 D20S570E;D20S834;PMC115282P1;RH12300;RH98828;SHGC-132356;SRC;SRC_1807;UniSTS:7066;WI-14593;Z94309 ASV;SRC1;c-SRC;p60-Src OTTHUMP00000174476;OTTHUMP00000174477;OTTHUMP00000174478;proto-oncogene c-Src;proto-oncogene tyrosine-protein kinase Src;protooncogene SRC, Rous sarcoma;tyrosine kinase pp60c-src;tyrosine-protein kinase SRC-1 APPROVED protein-coding ENSG00000197122 11283 01819 190090 REVIEWED 1606024 SRCAP Snf2-related CREBBP activator protein This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012] 16 16 p11.2 30617963 30658951 + 30710462 30751450 + 6480464 10347196;17617668;17101442;16634648;16344560;16024792;15647280;14702039;14500758;12477932;11581372;9205841;8889548;11013263;10702287;18029348;14966270;16169070;17643375;20432434;17573780;20946988;22965468;23165645;22939629;23193612;21673954;22467210;21697133;20467438;22479200;11522779;12954226;19234533;20299344;20841388;21785598;22265015;21139048;21890473;21906983 10847 C9J4U4;Q6ZRS2 AB621816;ABBA01042054;ABBA01042055;AC093249;AC106886;AF143946;AK023808;AK025382;AK126463;AK128030;AMYH01007497;AMYH01007498;AU140541;BC025284;BC063578;BM677852;CH471192;DA109400;NG_032135;NM_006662 AAD39760;AAH63578;AAI72428;BAC86558;BAC87237;BAG51225;BAK64152;EAW52213;EAW52214;NP_006653;Q6ZRS2 Hs.620916 1677250;1684437;1686919;1693754;1793762;2191513;2218058;5124440 MARC_24290-24291:1030105993:1;PMC277710P1;RH18347;RH64893;RH65286;RH92880;SHGC-58827;SRCAP_3778 DOMO1;EAF1;FLHS;FLJ44499;KIAA0309;SWR1 OTTHUMP00000163226;OTTHUMP00000208671;Snf2-related CBP activator protein;Swi2/Snf2-related ATPase homolog, domino homolog 1;domino homolog 1;domino homolog 2;helicase SRCAP APPROVED protein-coding ENSG00000080603 16974 18103 136140;611421 REVIEWED 737503 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008] 2 2 p23 31603160 31659544 - 31749656 31806040 - 1600067;1600059;1331525;1580863;1300048;2302558;2302560;4891929;4891877;2325883;6480464;6907045;7240710 12749121;10514539;15118671;15212687;12949937;10501358;18379994;18821018 15061984;1522235;18306354;18268111;18258185;18163429;18097518;18086758;18000232;17823934;17785571;17669147;17609295;17588204;17507624;17448593;17376218;17328668;17220347;17136762;17108148;16859836;16849416;16821341;16818707;16716118;16608396;16487406;16325991;16181229;16174723;16155734;16098368;16039774;16029630;16018939;15770495;15733480;15711606;15538746;15528927;15477877;15389785;15337247;15326487;15266301;15241822;15201804;15136785;1944596;19505920;19492581;19383266;19267353;19246976;19215786;19125422;19064572;18949357;18780294;18767927;18722876;18717241;18566991;18503826;18501301;18495332;18483391;18469342;18431743;18391540;18391525;18350250;18314109;14739525;14693733;14652280;14594182;12971967;12869400;12843198;12815006;12788885;12771801;12746845;12738739;12712437;12670724;12477932;12446983;12370109;12210487;12164325;12137870;12115497;12111704;12100746;12042668;11927504;11903314;11869378;11847524;11845321;11751447;11588134;11571725;11547131;11440959;11381197;11355945;11303586;11164181;10999800;10913941;10718838;10342882;9843052;9745434;9467575;9208814;9066886;8768837;8626825;7688765;7554313;1505484;1406794;19913121;20628086;20634197;20800085;21402750;21557268;20179965;15583024;20855474;20734064;16736621;19443907;19574343;19598235;19760631;19846565;19914946;19926884;19956849;19962986;20056642;20059664;20173016;20200332;20214802;20215396;20381444;21037542;20019388;20132346;20736251;20511729;21540559;21714467;21147889;21511288;21177315;21218640;21627373;21676395;21530059;21715084;22707254;23329752;21631525;22453073;22486281;22509838;23112260;23044880;22735779;22362597 6716 P31213 AB047857;ABBA01074857;ABBA01074858;AK307235;AK316597;AL133247;AMYH01010220;AY884245;BC112252;BC113641;CH471053;EF560740;L03843;M74047;NG_008365;NM_000348 AAA60586;AAI12253;AAI13642;AAW56942;ABQ59050;ACE87820;ACT64378;ADR82875;BAB40419;BAG38184;EAX00478;NP_000339;P31213 Hs.458345 1742459;1768348;1796878;2137947;2184544 G10662;GDB:197081;SRD5A2_256;STS-M74047;WI-9246 MGC138457 3-oxo-5 alpha-steroid 4-dehydrogenase 2;3-oxo-5-alpha-steroid 4-dehydrogenase 2;5 alpha-SR2;S5AR 2;SR type 2;steroid 5-alpha-reductase 2;type II 5-alpha reductase APPROVED protein-coding 11285 07390 264600;607306 REVIEWED 736446 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008] 5 5 p15 6686500 6722675 + 6633500 6669675 + 1580863;1300048;2302521;2302558;2302559;2302522;2302523;4891877;4891894;4891511;2325883;4891505;4891966;6480464;6907045 17720776;15212687;15136785;17707058;16818707;18379994;17884440;20098742;18821018;20303481;12374776 10931946;22273344;1686016;19383266;19246976;19064572;18636124;18633104;18483391;18422030;18258185;18215136;18008328;17218734;17066438;16849416;16155734;16100771;15941927;15862960;15792368;15543614;15538746;15489334;15004407;14997014;14739525;14671189;12738739;12670724;12477932;11948017;11903314;11678334;9685215;9620288;9110174;8876709;8619474;8389478;7796940;7688765;6833469;4400474;2339109;1345916;17986282;19913121;20628086;20634197;20672519;20800085;15583024;21947678;20519274;20734064;19574343;19598235;19846565;19886072;20056642;20086173;20200332;20214802;21447938;23183084;21676395;21795608;21530059;21715084;21323680;22589738;19322201;22194926;22509838;22952603 6715 B7Z4D8;D6RDL6;D6RG03;F5GXK9;P18405 ABBA01016148;ABBA01016149;AC010366;AF052126;AF073301;AF073302;AF073303;AF073304;AF113128;AK297208;AK297511;AK313070;AK315996;AMYH01014880;AY341029;BC006373;BC007033;BC008673;BT006834;CH471102;M32313;M68886;NM_001047 AAA35490;AAA60995;AAC26862;AAC26863;AAC26864;AAC26865;AAC28620;AAF14869;AAH07033;AAH08673;AAP35480;AAP88935;ABM82463;ABM85652;BAG35898;BAH12524;BAH12598;BAH14367;EAX08103;EAX08104;NP_001038;P18405 Hs.552 1659453;1662795;1683032;2117078;2176631 D5S2373;RH41119;RH78527;SGC30358;WI-18821 S5AR 1 3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1;3-oxo-5-alpha-steroid 4-dehydrogenase 1;5-alpha reductase;OTTHUMP00000115519;SR type 1;steroid 5 alpha-reductase 1;steroid 5-alpha-reductase 1;steroid 5-alpha-reductase type I APPROVED protein-coding ENSG00000145545 11284 01699 184753 VALIDATED 6766521 SRD5A3-AS1 SRD5A3 antisense RNA 1 4 56232768 56251747 - 12477932 100506462 ABBA01003411;ABBA01003412;AC064824;AC069200;AMYH01014190;BC034006;BC047403;BQ574699;NR_037969 Hs.718667 1755807;1774288;2178984;2187538;5016596;5022578 D1S1423;GDB:631802;SHGC-142651;SHGC-59633;SHGC-67770;SHGC-68214 APPROVED miscrna ENSG00000249700 44138 VALIDATED 1606233 SRD5A3 steroid 5 alpha-reductase 3 The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011] 4 4 4 q12 53714242 53739692 + 55907166 55932235 + 56212388 56239267 + 6480464;6907045;7240710 17986282;14702039;12477932;20637498;20852264;17207965;15583024;20700148;20301507;21704348;21988832 79644 H0Y9P9;Q9H8P0 ABBA01003411;ABBA01003412;AC064824;AC069200;AK023414;AMYH01014190;BC002480;CH471057;CR457312;CX763068;DB532427;NG_028230;NM_024592 AAH02480;AAY40904;ADQ32316;BAB14568;CAG33593;EAX05465;NP_078868;Q9H8P0 Hs.39311 1755807;1774288;2178984;2187538;5016596 GDB:631802;SHGC-142651;SHGC-59633;SHGC-67770;SHGC-68214 CDG1P;CDG1Q;FLJ13352;KRIZI;SRD5A2L;SRD5A2L1 3-oxo-5-alpha-steroid 4-dehydrogenase 3;OTTHUMP00000158927;S5AR 3;SR type 3;polyprenol reductase;probable polyprenol reductase;steroid 5 alpha-reductase 2-like;steroid 5-alpha-reductase 2-like;steroid 5-alpha-reductase 3 APPROVED protein-coding ENSG00000128039 25812 07825 611715;612379;612713 REVIEWED 1604479 SREK1IP1 SREK1-interacting protein 1 5 5 5 q12.3 61010895 61061416 - 64049731 64100252 - 64013975 64064496 - 6480464 15456940;14702039;12477932;20379614 285672 Q8N9Q2 ABBA01048337;AC008898;AK094073;AL832348;AMYH01015132;BC047006;BC108716;BC127085;BC127086;CH471137;NM_173829 AAI08717;AAI27086;AAI27087;BAC04279;EAW51366;EAW51367;EAW51368;NP_776190;Q8N9Q2 Hs.69504 1680082;1684046;1735440;1753303;1769949;1771149;2116402;2128710;5020437 D5S1573E;RH45975;RH48771;RH92756;RH92832;SGC38270;SHGC-34182;SHGC-81717;STS-N34863 FLJ36754;MGC131910;MGC150548;MGC150549;P18SRP;SFRS12IP1 OTTHUMP00000221852;SFRS12-interacting protein 1;p18 splicing regulatory protein;protein SFRS12IP1;protein SREK1IP1;splicing regulatory protein of 18 kDa APPROVED protein-coding 26716 08210 VALIDATED 1603357 SRFBP1 serum response factor binding protein 1 5 5 5 q23.1 117252114 117318751 + 121325555 121392194 + 121297656 121364295 + 6480464 18230186;16647043;15492011;12477932;11329013;19751705;17207965;21890473 153443 Q8NEF9 ABBA01068961;ABBA01068962;AC010255;AC093521;AK058015;AMYH01015583;AY611630;BC017102;BC031222;BG193119;CH471086;NM_152546 AAH17102;AAH31222;AAU25829;ADQ32366;BAB71631;EAW48899;EAW48900;NP_689759;Q8NEF9 Hs.107622 1850378;5093246 A009K09;G32606 BUD22;FLJ25286;P49;Rlb1;STRAP;p49/STRAP BUD22 homolog;OTTHUMP00000222981;SRF-dependent transcription regulation associated protein;SRF-dependent transcription regulation-associated protein;serum response factor-binding protein 1 protein-coding ENSG00000151304 26333 08685 610479 VALIDATED 6480848 SRGAP2-AS1 SRGAP2 antisense RNA 1 q32.1 100873165 AK127439 Hs.568525 APPROVED miscrna 40902 6481055 SRGAP2-IT1 SRGAP2 intronic transcript 1 (non-protein coding) 100874341 AL161736 miscrna 41454 69473 SREBF1 sterol regulatory element binding transcription factor 1 This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 p11.2 17656111 17681050 - 17714663 17740325 - 1580863;2308802;2308806;2308809;2308811;2308804;1581418;2308808;1625196;2308807;1581819;2308805;2308821;2308815;1581420;2317203;6480464;6484113;6907045 19357831;18613221;18692268;17961514;19048273;16046298;19423844;15944339;17241878;16741953;19017816;17524234;16936198;10600799;19933148 11257259;8156598;14701856;16407292;19533843;19360318;19336475;19323650;19292868;19252981;19242521;19062325;19056482;19056350;19040658;19008011;18996102;18936756;18854425;18835813;18774944;18752865;18727921;18682402;18660489;18654640;18635549;18435918;18420801;18403372;18360697;18334917;18304434;18281474;18272927;18267114;18245227;18195716;18192539;18072016;18068676;18065496;17989724;17681345;17655842;17452746;17344645;17331464;17296605;17198935;17160088;17141191;17081983;17019602;16885156;16880739;16825193;16817902;16806233;16804073;16799563;16713569;16480961;16429400;16387548;16306078;16249184;16198472;16162944;16158080;16153721;16141315;16055439;16007182;16005884;15833942;15809359;15798184;15794649;15769984;15677507;15550381;15388640;15340088;15317819;15286454;15277400;15123650;15102555;15085196;15026365;14988272;14748724;14747281;14744869;14742839;14722127;14702039;14654692;14633850;12752570;12730330;12657626;12615929;12531699;12477932;12436350;12213084;12177166;12145339;12021179;11997338;11929849;11916923;11713202;11485982;11334418;22429355;22672904;21775116;20466882;10235267;9765204;10949029;10915800;10619424;10585876;10224053;9651391;9634703;9070916;8402897;8314806;8006035;7903453;7759101;10627507;18385733;8918891;9062340;8626610;20513236;19913121;20554776;20628086;16054087;12202038;12242332;18559965;19470430;19578796;19621387;19720801;19727213;19733654;19811452;19876004;19878569;19913854;19948975;19966780;20005944;20026048;20028734;20031551;20067991;20071336;20130133;20145241;20167577;20171215;20235787;20376806;20173757;20534441;20980003;19032865;20971080;20615871;20817729;20868688;20648548;20965718;12640139;14615581;16303770;20655124;20863500;17636037;21146170;21325464;21738487;21609284;21093473;21540177;21652712;11834832;20595232;21145868;21619898;21310851;22258239;15358760;19126544;19303849;21871872;21645898;21836065;21664250;22035958;21757781;21987572;22311022;22331133;21139048;21693764;21906983;21993218;22384276;22474125;22678801;21826653;22152380;22064655;22153697;22425645;22363740;19727227;9242699;21963094;22939624;22966071;23000965;23106379;22786746;22969152;22984430;23226416;22059152;22690709;15161980;22505724 6720 B5MD58;F6V242;H7C203;J3KS75;J3QLB6;K7EIW8;K7EKR7;K7EMD1;K7EMT8;Q6PJ36 AB209609;AB373958;AB373959;ABBA01009743;ABBA01009744;ABBA01009745;AC122129;AK091131;AK095325;AK128320;AK293795;AK294800;AK297113;AMYH01008161;AMYH01008162;BC023621;BC026962;BC057388;BC063281;BE208013;BI906407;BQ025047;CH471196;NG_029029;NM_001005291;NM_004176;S66167;S66168;U00968 AAB28522;AAB28523;AAC50051;AAH23621;AAH26962;AAH57388;AAH63281;BAD92846;BAG06742;BAG06743;BAG52289;BAG53027;BAG54659;BAG57207;BAG57920;BAG59620;EAW55688;EAW55689;EAW55690;EAW55691;NP_001005291;NP_004167;P36956 Hs.592123;Hs.733635 1744989;1744991;1744993;1744995;1744997;1744999;1745005;1745007;2155499;5016520;5016522;5016524;5117610;5117614;5117616;5117618;5117620 GDB:592698;GDB:592707;GDB:592712;GDB:592720;GDB:592722;GDB:592724;GDB:592726;GDB:592728;GDB:592730;GDB:592732;GDB:592734;GDB:592791;GDB:592797;GDB:592800;GDB:592807;GDB:592816;L29900 SREBP-1c;SREBP1;bHLHd1 OTTHUMP00000065589;OTTHUMP00000065590;OTTHUMP00000065591;OTTHUMP00000065592;OTTHUMP00000065593;SREBP-1;class D basic helix-loop-helix protein 1;sterol regulatory element binding protein-1;sterol regulatory element-binding protein 1;sterol regulatory element-binding transcription factor 1 APPROVED protein-coding ENSG00000072310 11289 01701 184756 REVIEWED 1352789 SREK1 splicing regulatory glutamine/lysine-rich protein 1 This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] 5 5 5 q12.3 62438135 62474766 + 65475841 65512472 + 65440046 65479444 + 1580863;6480464 19951526;19309015;21145461;17353931;15489334;15456940;14702039;14559993;12477932;12403470;12183448;12176931;12043562;11991645;10757789;20400856;22939629;18029348;19322201 140890 E5RFV3;E5RJ76;E5RK30;H0YC47;Q8WXA9 AB209694;ABBA01048318;AC008772;AC025442;AF459094;AK091758;AK125893;AK308287;AL049309;AL703981;AL832888;AMYH01015136;AW963850;BC017000;BC047322;BC067770;BC112343;CD706234;CH471137;NM_001077199;NM_001270492;NM_001270493;NM_139168 AAH47322;AAH67770;AAI12344;AAL67778;BAD92931;BAG52411;CAH10414;EAW51328;EAW51329;EAW51330;EAW51331;NP_001070667;NP_001257421;NP_001257422;NP_631907;Q8WXA9 Hs.49367 1665867;2121267;2173578;2217968;5020948;5109281 D1S1425;G35510;RH48547;SFRS12_3712;SHGC-33131;SHGC-36384 DKFZp564B176;MGC133045;SFRS12;SRrp508;SRrp86 OTTHUMP00000123465;OTTHUMP00000123466;OTTHUMP00000228004;serine-arginine-rich splicing regulatory protein 508;serine-arginine-rich-splicing regulatory protein 86;serine/arginine-rich-splicing regulatory protein 86;splicing factor, arginine/serine-rich 12;splicing regulatory glutamine/lysine-rich protein 1;splicing regulatory protein 508 APPROVED protein-coding ENSG00000153914 17882 18043 609268 REVIEWED 1321393 SRF serum response factor (c-fos serum response element-binding transcription factor) This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). [provided by RefSeq, Jul 2008] 6 6 p21.1 43246898 43257222 + 43138920 43149244 + 1581423;1581424;1581425;1581426;1581427;1581428;1581473;1580754;1580863;1580749;1580753;6480464;6484113;6907045 16600861;15569937;12909581;11893590;16894357;9570363;12874181;16260633;16822834;12654640 3203386;16054032;15180964;17200232;17576768;17215356;8887666;17975004;12660819;15282327;18029348;19329434;19198601;19151755;19098903;19079548;18780286;18694962;18501668;18296735;18078809;17629633;17376895;17122890;17081983;16151017;15857835;15610731;15576363;15542842;15489334;15326221;15014501;14565952;12853125;12788374;12788062;12622724;12530967;12477932;21479245;12397177;12297045;12270917;12242287;12200418;12171911;12082086;12061776;11859076;11846562;11641790;11500490;11457859;11439182;11406578;11387340;11359793;11278942;11181183;11158291;11136726;11104785;11003651;10993896;10847592;10777532;10753652;10606656;10571058;10336466;10318869;10318842;9786846;9584171;9545312;9388250;9334314;9271374;9032301;9010223;8670842;8617811;8604338;8413226;8407951;8375385;8106390;8024585;7854423;7796532;7637780;7624133;7551568;7540136;2046671;1740119;1547771;1512232;10556093;12077347;10082523;15806162;15207639;15862967;19783823;20144681;19913121;20628086;17158926;20808827;20096952;20811705;16690609;19359245;20685657;15492011;18497331;19151320;19342595;19350017;19513551;19687146;19724058;19801679;19953255;20147408;20379614;2108863;21393865;21131446;17599918;21410985;12663674;15456770;15591049;20724380;22537405;21842128;21998125;22049076;19609363;21893058;21777672;21965288;15802564;22157009;17360478;22192413;22356487;23382706 6722 F5H6V4;P11831 AB209128;ABBA01050693;ABBA01050694;AI085561;AK300467;AL133375;AL355385;AMYH01016311;BC048211;BC052572;CH471081;CS542447;J03161;NM_003131 AAA36647;AAH48211;AAH52572;BAD92365;BAG62186;CAM91173;EAX04161;EAX04162;NP_003122;P11831 Hs.520140 2179492;2179494;2218060;5037744 D1S3694;D6S2165;RH46608;SRF_3467 MCM1 OTTHUMP00000016422;serum response factor APPROVED protein-coding ENSG00000112658 11291 02788 600589 REVIEWED 6480826 SRGAP3-AS1 SRGAP3 antisense RNA 1 100874103 AC034186;AI209215;BX111651 Hs.560675 APPROVED miscrna 40898 5144597 SRGAP3-AS2 SRGAP3 antisense RNA 2 3 9234219 9236137 + 100507660 XR_110029;XR_133336 APPROVED miscrna 40899 5144719 SRGAP3-AS3 SRGAP3 antisense RNA 3 3 p25.3 9258579 9260213 + 100288831 B7Z7J9 ABBA01020414;AC037193;AK302139;AMYH01012963;NR_103443;XM_003959969;XM_003960319;XM_003960922 BAH13635;XP_003960018;XP_003960368;XP_003960971 Hs.694646 SRGAP3 antisense RNA 3;SRGAP3 antisense RNA 3 (non-protein coding) APPROVED miscrna 40900 VALIDATED 6481222 SRGAP3-AS4 SRGAP3 antisense RNA 4 100874132 AC026191 APPROVED miscrna 42434 1348930 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 12 12 12 q14.2 63903548 64206828 + 62524808 62823841 + 64238541 64541613 + 1580863;6480464 17081983;15761153;15489334;14702039;12736724;12477932;11672528;10718198;19807924;20237496;21060114;19322201;20856855;19531213;23539728 57522 G5EA48;Q7Z6B7 AB037725;ABBA01026615;ABBA01026616;ABBA01026617;ABBA01026618;AC020611;AC025576;AC079866;AC084357;AK023899;AK025819;AK123684;AMYH01004541;AMYH01004542;BC006127;BC029919;BC053903;CH471054;NM_020762 AAH53903;BAA92542;EAW97122;EAW97123;NP_065813;Q7Z6B7 Hs.210751;Hs.593803 1675571;1736302;1746099;1746649;1746841;1782606;1857845;2121516;2127158;2141133;2141135;2145495;2149492;2158176;2182275;5022578;5109737 A004M33;A005Q32;D12S1232E;D12S1244E;D12S1535;D14S1430;D1S1423;G20419;G64476;G64477;G64739;RH44473;RH44524;RH68563;RH80302;SHGC-142899;SHGC-7187 ARHGAP13;FLJ22166;KIAA1304 OTTHUMP00000239355;OTTHUMP00000239356;SLIT-ROBO Rho GTPase-activating protein 1;rho GTPase-activating protein 13 protein-coding ENSG00000196935 17382 09406 606523 VALIDATED 730972 SREBF2 sterol regulatory element binding transcription factor 2 This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q13 40559052 40632321 + 42229106 42302375 + 1581412;1581413;1581414;1581415;1581416;1581417;1581418;1581419;1581420;1625197;1580863;1625196;2308815;2308818;2308821;2308813;2308812;2308825;1581819;2308843;2307223;2317203;6480464 16082694;15026365;12801623;15547298;16316337;15062879;16046298;15644403;10600799;11950857;15944339;16936198;19124072;17524234;18095312;18682608;16814791;16741953;9786926;19147991;19933148 7903453;10976766;15527767;19323650;19263511;19155782;19116028;19056482;19041766;18959802;18954446;18936756;18660489;18579430;18403372;18321953;18272927;18195716;17921436;17702963;17604677;17383658;17198935;17142457;17008555;16901265;16806233;16763159;16697011;16466730;16335799;16227610;16158080;16141315;15798184;15721010;15489334;15461802;15388640;15358760;15211801;15085196;14988395;14765107;14702039;14645851;14500290;12855700;12842885;12615929;12477932;18072016;18032389;22573671;12242332;11485982;11283257;11149418;10896675;10627507;10619424;10591208;10397761;9990022;9927745;9508001;9139737;9070916;8918891;8900111;8643593;8626610;8605870;8402897;7759101;16014965;12202038;16169070;19913121;20628086;12446768;12941800;19231010;19460711;19497963;19550366;19582494;19706601;19740467;19906111;19948975;20031551;20111910;20138239;20167577;20379614;9242699;16303770;20980003;20466882;20936779;20566875;20460578;20450493;22662110;20144195;20732877;20211142;20734064;20965718;22666465;21613400;20926756;21757058;21944868;23102786;23454642;21139048;21693764;21906983;19098903;22429355;22182810;22153697;22425645;22288532;22573382;21963094;21987572;21988832;23044239;22505724 6721 G3V0I8;H0Y7E5;Q12772;Q8NCY3 AA035591;ABBA01055654;ABBA01055655;AK299914;AL021453;AL834221;AMYH01012804;BC051385;BC051799;BC056158;CH471095;CT841522;D86746;NM_004599;NR_103834;U02031;Z99716 AAA50746;AAH51385;AAH51799;AAH56158;BAC57590;BAG61752;CAD38902;CAJ86452;CAK54615;CAK54914;EAW60469;EAW60470;EAW60471;NP_004590;Q12772 Hs.443258 1341801;1655676;1656479;1679141;1686977;1698230;1745011;2114477;2131436;2137256;2146440;2162086;7185417 1094;AL008656;D22S1157;D22S1563;GDB:592857;RH102651;RH80373;SHGC-12896;SHGC-30242;SHGC-58081;WI-12706;WI-20973 SREBP-2;SREBP2;bHLHd2 OTTHUMP00000199514;SREBP-2;class D basic helix-loop-helix protein 2;sterol regulatory element-binding protein 2;sterol regulatory element-binding transcription factor 2 APPROVED protein-coding ENSG00000198911 11290 02726 600481 REVIEWED 1346786 SRIP1 sorcin pseudogene 1 4 4 4 q12 56472233 56472715 + 58663969 58664651 + 58969313 58969795 + 9847074 6644 ABBA01003458;AC096725;AMYH01014204;NG_003017 SRIL APPROVED pseudo 11293 INFERRED 4110704 SRIP2 sorcin pseudogene 2 X X q21.31 2628353 2628584 + 88622465 88622696 - 100499485 ABBA01034878;AL121872;AMYH01022680;NG_027484 pseudo 38734 INFERRED 5685720 SRIP3 sorcin pseudogene 3 Y 6586991 6587221 - 9847074 100861435 AC013412;NG_032006 pseudo 38735 INFERRED 2303324 SRGAP2B SLIT-ROBO Rho GTPase activating protein 2B This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012] 1 1 q21.1 142627521 142805781 + 143915748 144094477 + 12477932;22559943;22559944 647135 AC242498;AL078463;AL109844;AMYH01001372;BX537114;CR589924;FP700111;NM_001271870;NR_034178 CAI13084;CAI20334;CAM28370;NP_001258799 Hs.497575 1671757;1676616;1692210;1723637;1761225;1849813;2160380 AL033759;D1S2588;G09800;L17904;RH119472;RH64519;SHGC-145233 SRGAP2L;SRGAP2P2;WI2-929E21 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2;SLIT-ROBO Rho GTPase activating protein 2B (pseudogene) APPROVED protein-coding 35237 614703 REVIEWED 1315254 SRL sarcalumenin 16 16 16 p13.3 4446058 4499081 - 4179376 4232082 - 4239375 4292081 - 6480464 16344560;14702039;8681137;2762314;23251661 6345 B3KPP4;B4DYT9;I3L4D6;Q86TD4 ABBA01026762;ABBA01026763;AC009171;AK056588;AK302601;AL831973;AL832361;AMYH01007101;BX647476;DA563862;DB149163;F26773;NM_001098814 AAI60181;BAG51756;BAG63851;CAD89901;NP_001092284;Q86TD4 Hs.10041 1338638;1697706;2219720;5037552 D16S3084;D8S2279;RH102371;SRL__5315 sarcalumenin protein-coding ENSG00000185739 11295 604992 VALIDATED 1345666 SRML2 spermidine synthase-like 2 6724 11297 1345441 SRMP1 spermidine synthase pseudogene 1 20 20 20 q13.13 43186670 43187903 + 45921839 45922923 + 46488460 46489693 + 170552 ABBA01052710;AL121777;AMYH01011955;NG_001057 1686046 D20S539E dJ1057D4.1 pseudo 16552 INFERRED 1353214 SRMP2 spermidine synthase pseudogene 2 14 14 14 q23.1 41435955 41437136 - 60455359 60456675 - 61385700 61386881 - 326269 ABBA01018292;AL160236;AMYH01005771;AY165512;NG_002532 pseudo 20034 INFERRED 1603455 SRGAP2C SLIT-ROBO Rho GTPase activating protein 2C This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012] 1 1 p11.2 120792316 120836265 + 121090793 121134742 + 6480464 15252450;12477932;17903296;21906983;22559943;22559944 653464 P0DJJ0 AC243994;AC244021;AC244453;AL358175;AMYH01000981;BC017972;BC036880;BC112927;NM_001271872 NP_001258801;P0DJJ0 Hs.497575;Hs.523529;Hs.698027 1681056;1681773;1688797;1714247;1781470;2158769;2163716;2164118 D1S283E;G29313;G34859;RH119902;RH36527;RH48365;RH64480;SHGC-112560 MGC131678;SRGAP2P1 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1;SLIT-ROBO Rho GTPase-activating protein 2C APPROVED protein-coding 30584 614704 REVIEWED 1315310 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 20 20 20 58852519 58859217 - 61642607 61649301 - 62172163 62178857 - 1580863;6480464 11780052;7935409;19953087 6725 Q9H3Y6 ABBA01021402;AL121829;AMYH01012083;CH471077;NM_080823 AAI48644;AAI53199;EAW75261;NP_543013;Q9H3Y6 Hs.411061 C20orf148;SRM;dJ697K14.1 OTTHUMP00000031561;tyrosine-protein kinase Srms protein-coding ENSG00000125508 11298 10250 PROVISIONAL 1603684 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogous loci on human chromosome 1, resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Dec 2012] 1 1 1 q32.1 179840685 179889229 + 204582823 204704406 + 206516197 206637783 + 6480464 15324660;15046868;14702039;12736724;12477932;11672528;9455484;22261722;19913121;20602751;20628086;20810653;15252450;19041431;19807924;20379614;21148482;22559943;22559944;17043677;21139048;21906983;17979178;21963094;23031429;22797925 23380 A2RUF3;B4DFE5;B7Z3G4;B7ZM87;E9PDX4;H0Y2P8;H0Y4C3;H0Y582;O75044;Q5VZB4 AB007925;ABBA01010189;ABBA01010190;AC244023;AC244034;AC244035;AC244158;AK000885;AK124556;AK293335;AK294060;AK295845;AL109844;AL161736;AMYH01001676;BC041635;BC063527;BC132872;BC132874;BC144343;BC150646;CH471100;CR407567;NM_001042758;NM_001170637;NM_015326 AAI32873;AAI32875;AAI44344;BAA32301;BAG50836;BAG56851;BAG57406;BAH12200;CAH73674;CAH73675;CAH73676;EAW93550;NP_001036223;NP_001164108;NP_056141;O75044 Hs.497575;Hs.729527;Hs.744555 1338199;1681056;1681773;1688797;1714247;1781470;2107107;2120522;2123691;2131725;2137774;2141117;2143485;2146987;2154828;2158769;2163716;2164118;2183119;5113078;5124972 A002S48;D1S2636;D1S283E;FNBP2__6744;G29313;G34859;IB1439;RH119902;RH36527;RH44985;RH48365;RH64480;RH64549;RH64614;RH66387;RH66473;SHGC-112560;SHGC-76221;SHGC-76240;SHGC-76241;SHGC-76254 ARHGAP34;FNBP2;KIAA0456;SRGAP2A;srGAP3 OTTHUMP00000034541;OTTHUMP00000034542;SLIT-ROBO Rho GTPase-activating protein 2;formin binding protein 2;formin-binding protein 2;rho GTPase-activating protein 34 protein-coding ENSG00000163486 19751 18520 606524 REVIEWED 1603145 SRP14P1 signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1 12 12 12 p13.31 8164533 8165195 + 6417928 6418259 + 6547641 6548303 + 19773279 390284 ABBA01017642;AC005840;AMYH01004203;NG_012939 2161282 SHGC-2359 pseudo 33181 INFERRED 7244624 SRP14-AS1 SRP14 antisense RNA1 (head to head) 15 q15.1 40331512 40359710 + 8889548;22327514;23251661 100131089 ABBA01038461;ABBA01038462;ABBA01038463;ABBA01038464;AC021755;AC025168;AI424388;AK127696;AMYH01006557;AMYH01006558;BM706250;BU737016;BX111264;EB388563;NR_040059;NR_040060;NR_040061;NR_040062 Hs.386000 5022578 D1S1423 miscrna ENSG00000248508 48619 VALIDATED 1345309 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 3 3 p25.3 8997278 9266311 - 9022275 9291369 - 1580863;6480464 16730001;16344560;14702039;12736724;12477932;12447388;12368262;12195014;12168954;11672528;10574461;9455477;19433673;19760623;19807924;20035503;20237496;20379614;17043677;8889548 9901 O43295 AB007871;AB032982;ABBA01020414;ABBA01020415;AC026191;AC034186;AC037193;AC066583;AF427144;AF464189;AK054831;AK094355;AK126331;AL137457;AL390174;AMYH01012962;AMYH01012963;AU120948;BC039300;BC140004;BM976179;CH471055;DA532895;NM_001033117;NM_014850 AAH39300;AAI72359;AAN07095;AAN57784;BAA24841;BAA86470;EAW63950;EAW63951;NP_001028289;NP_055665;O43295 Hs.654743 1337159;1696348;1727297;1730481;1753953;1756209;1764197;1764931;1764933;1767086;1776287;1784758;1855098;2126118;2147526;2167342;2172728;5017433;5022200;5022588;5022651;5037552;5491908 A002R42;D11S2921;D3S2405;D3S726;D5S1597E;D8S2279;DXS8011;G63055;L18426;NIB673;SGC30473;SHGC-143079;SHGC-147835;SHGC-148487;SHGC-148488;SHGC-154513;SHGC-57635;SHGC-76688;SHGC-77796;SHGC-89278;STS-F02849;STS-T76997;Srgap3 ARHGAP14;KIAA0411;MEGAP;SRGAP2;WRP OTTHUMP00000115707;OTTHUMP00000207115;SLIT-ROBO Rho GTPase activating protein 2;SLIT-ROBO Rho GTPase-activating protein 3;WAVE-associated Rac GTPase activating protein;WAVE-associated Rac GTPase-activating protein;mental disorder-associated GAP;rho GTPase-activating protein 14 protein-coding ENSG00000196220 19744 12108 606525 VALIDATED 1346396 SRGN serglycin This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010] 10 10 q22.1 70517834 70534573 + 70847828 70864567 + 6480464 15136585;11154222;18000860;17909965;15788411;15489334;14739229;14506241;12477932;12388539;11469527;11012225;10228010;9334256;8613703;7821789;7559813;4062880;3402609;3366780;3214420;2835370;2798108;2726751;2714783;11911826;16870619;2180935;1377686;16189514;21289131;12766061;15342556;16712791;14630798;16713569;21268013;21075844;21849484;21900206;23387827;22807344 5552 P10124 ABBA01019599;AI347627;AK311873;AL442635;AMYH01002806;BC015516;BC022313;BG057351;BG548665;BP335278;BQ051861;CA308463;CB110512;CD677686;CH471083;D28395;J03223;M33651;NM_002727;NR_036430;X12765;X17042 AAA60179;AAA60322;AAH15516;ABM82368;ABM85546;BAA05761;BAG34814;CAA31255;CAA34900;EAW54309;EAW54310;NP_002718;P10124 Hs.1908 1648617;1742249;1760137;1856060;2128434;2172097 D10S2147;GDB:193871;RH45489;SHGC-132036;STS-X17042;WI-17483 FLJ12930;MGC9289;PPG;PRG;PRG1 OTTHUMP00000019716;hematopoetic proteoglycan core peptide;hematopoetic proteoglycan core protein;hematopoietic proteoglycan core protein;p.PG;platelet proteoglycan core protein;platelet proteoglycan protein core;proteoglycan 1, secretory granule;proteoglycan protein core for mast cell secretory granule;secretory granule proteoglycan 1;secretory granule proteoglycan core peptide;secretory granule proteoglycan core protein;serglycin;serglycin proteoglycan APPROVED protein-coding ENSG00000122862 9361 01513 177040 REVIEWED 3401209 SRP68P1 signal recognition particle 68kDa pseudogene 1 17 17 p11.2 16631173 16632278 - 16690448 16691553 - 10615134;11997339 252841 AC022596;AC098850;AMYH01008152;NG_001591 SRPSMCR pseudo 30427 VALIDATED 3401281 SRP68P2 signal recognition particle 68kDa pseudogene 2 17 17 p11.1 18371497 18372600 + 18430873 18431776 + 11997339 252840 ABBA01177868;AC107983;AMYH01008175;NG_001590 SRPSMCR pseudo 30426 INFERRED 3323317 SRP68P3 signal recognition particle 68kDa pseudogene 3 17 17 p11.1 20259596 20260700 - 20319104 20320008 - 11997339 347717 AC015818;AMYH01008239;NG_002720 SRPSMCR pseudo 30428 INFERRED 732806 SRM spermidine synthase The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008] 1 1 p36-p22 11037236 11042678 - 11114649 11120091 - 1300048;1580863;6480464;6907045;7242920;7242932;7242425;7244193 16931179;2292587;23073625;13678416 2069720;17585781;15489334;12477932;9020892;8343131;7774716;7629810;3481684;3248683;2730590;2344393;20562859;19615732;22939629;21139048;21890473;21906983;21044950;22053931 6723 K7EKM4;K7EL89;K7EQ47;K7ESL0;P19623 ABBA01003037;AL109811;AMYH01000251;AMYH01000252;BC000309;BC033106;CH471130;M34338;M64231;NM_003132 AAA36633;AAA60574;AAH00309;AAH33106;ACE86475;ACE87156;EAW71675;EAW71676;NP_003123;P19623 Hs.76244 1686046;2161122;5122092 D20S539E;RH70746;STS-M34338 PAPT;SPDSY;SPS1;SRML1 OTTHUMP00000002170;putrescine aminopropyltransferase;spermidine synthase;spermidine synthase-1 APPROVED protein-coding ENSG00000116649 11296 01692 182891 VALIDATED 1351238 SRP72P1 signal recognition particle 72kDa pseudogene 1 18 q21.1 47021516 47023267 - 100420752;414747 ABBA01018653;AC100778;AMYH01008990;NG_026292 pseudo 31095 INFERRED 1603229 SRI sorcin This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012] 7 7 q21.1 87672368 87694244 - 87834432 87856308 - 6480464 9668070;16130169;17699613;17541155;16934756;16931553;16320026;16189514;16169070;15862967;15808837;15489334;15231748;12804766;12754254;12477932;12411058;12408767;11714909;10748169;9570944;9268363;8561500;7873602;7835417;7592856;2901906;1286667;21979464;19913121;20628086;20647321;17643375;18315902;18423116;20858460;19885748;20012234;21109982;16341674;18624398;16344560;20972266;21139048;21890473;21906983;21963094;22052463;22338092;17215369;21628590;22701893;17893145;22053931;10672515;17130302 6717 B4DHQ6;B4DKK2;C9J0K6;E9PG82;P30626 AACC02000015;ABBA01045860;AC003991;AC005075;AK129770;AK295225;AK296601;AK310366;AL039198;AL117616;AL576812;AMYH01017671;BC011025;BI524104;BI559592;BI597920;BM739144;BM793972;BU854353;CH236949;CH471091;DA268050;DB540255;L12387;M32886;NG_032138;NM_001256891;NM_001256892;NM_003130;NM_198901 AAA60588;AAA92155;AAB96327;AAH11025;BAG58218;BAG59214;EAW76909;EAW76910;EAW76911;NP_001243820;NP_001243821;NP_003121;NP_944490;P30626 Hs.489040 1670658;2130791;2152311;2183335;5015619;5037552;5491751 D11S3114;D7S2348;D7S2744;D8S2279;RH68539;SRI;STS-N52223 CP-22;CP22;FLJ26259;SCN;V19 22 kDa protein;CP-22;H_RG167B05.1;OTTHUMP00000161663;OTTHUMP00000205590;OTTHUMP00000206386;OTTHUMP00000213080;OTTHUMP00000225575;V19;calcium binding protein amplified in mutlidrug-resistant cells;sorcin APPROVED protein-coding ENSG00000075142 11292 01680 182520 REVIEWED 1353021 SRP72P2 signal recognition particle 72kDa pseudogene 2 6 6 q25.3 158578132 158591754 - 158658168 158663816 - 153932;414748 ABBA01021093;ABBA01021094;AL133347;AMYH01016783;AMYH01016784;NG_001558 1656994 STS-W93645 dJ274L14.2 pseudo 31096 INFERRED 1345790 SRP9P1 signal recognition particle 9 pseudogene 1 10 10 10 q23.32 87309423 87310961 - 93555775 93557281 - 93565800 93567290 - 11181995 653226 ABBA01021925;AL359707;AMYH01002944;CH471066;NG_012272 EAW50106 1664650;1687469 HSC0JF072;RH64715 SRP9L1 APPROVED pseudo 23402 INFERRED 1318204 SRP19 signal recognition particle 19kDa 5 5 q21-q22 112224892 112231503 + 112196885 112228776 + 1580863;6480464 17434535;10618370;1678319;15635413;15489334;12477932;12244299;12050674;11682607;11641499;9016569;2460823;1651174;18089836;20179341;18029348;10737800;15146197;16344560;16368877;16461635;22939629;22863883;23221635;21139048 6728 D6RBG4;P09132 AA845342;ABBA01069051;ABBA01069052;AC008536;AC008575;AK311803;AMYH01015548;AW890522;BC000186;BC010947;BC017830;BC018669;BU661702;BY798924;CH471086;CN265235;CS185567;DA930867;DN915735;NM_001204193;NM_001204194;NM_001204196;NM_001204199;NM_003135;X12791 AAH10947;AAH17830;BAG34746;CAA31280;CAJ42748;EAW48996;EAW48999;EAW49000;NP_001191122;NP_001191123;NP_001191125;NP_001191128;NP_003126;P09132 Hs.637001 1646623;1680677;1718317;2138250;2146750 RH122930;RH71327;RH71328;RH80911;SHGC-12708 OTTHUMP00000159018;OTTHUMP00000223354;OTTHUMP00000223355;OTTHUMP00000223357;signal recognition particle 19 kDa protein protein-coding 11300 01644 182175 VALIDATED 1318313 SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) 15 15 q22 38115183 38118681 - 40327891 40331389 - 1580863;6480464 8196634;17353931;2557625;18455985;15635413;15489334;12477932;11790298;11089964;9016560;7542942;2153922;21145461;17207965;16169070;18089836;19710015;20348448;22939629;22863883;23221635;16196087;12777385;15840729;18781797;21139048;21890473;21906983;23455922;23463506;22327514;21853274;22505724;19738201;21963094;23000965;23151878;23251661;23349634;23398456 6727 H0YLA2;H0YLW0;P37108 AB061546;AB451391;ABBA01038464;AC025168;AMYH01006557;BC035495;BC051006;BC071716;BC100031;CH471125;CV575824;NM_003134;NR_104021;U07857;X73459 AAA59066;AAH35495;AAH71716;AAI00032;ADQ32219;BAB69067;BAG70205;CAA51838;EAW92390;EAW92391;NP_003125;P37108 Hs.533732 1688724;1745943;2130692;2145497;2152899;5023301 A004I33;D17S1974;G64291;RH17797;RH70343;g04502m ALURBP;MGC14326 18 kDa Alu RNA-binding protein;signal recognition particle 14 kDa protein protein-coding ENSG00000140319 11299 02831 600708 VALIDATED 5488962 SRPK2P SRSF protein kinase 2 pseudogene 8 q12.3 63775641 63776564 - 100419416 ABBA01041833;AC087358;AMYH01018762;NG_026032 2142374 SHGC-57147 SRPK2ps pseudo 30303 INFERRED 1350478 SRP54 signal recognition particle 54kDa 14 14 q13.2 34521982 34568519 + 35452104 35498773 + 6480464 9511762;14729963;10618370;16344560;15489334;12477932;12244299;11680843;10497032;9512475;9016569;8722571;20516149;18089836;20379614;8247130;8622769;22939629;23221635;17558393;21139048;21890473;21906983;18029348;22174317;22505724 6729 G3V346;G3V3L9;G3V480;G3V4F7;P61011 ABBA01061493;ABBA01061494;ABBA01061495;ABBA01061496;AK293319;AK300824;AK312853;AL049776;AMYH01005663;AMYH01005664;AMYH01005665;BC000652;BC003389;DA495064;NM_001146282;NM_003136;U51920;X86373 AAC50994;AAH00652;AAH03389;ADZ15911;BAG35706;BAG56838;BAG62478;CAA60132;NP_001139754;NP_003127;P61011 Hs.167535 1663366;1852863;2141351;2173956 G35379;G35634;RH68420;RH70669 OTTHUMP00000178810;OTTHUMP00000244496;signal recognition particle 54 kDa protein protein-coding ENSG00000100883 11301 05330 604857 VALIDATED 1313366 SRP68 signal recognition particle 68kDa This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012] 17 17 17 q25.1 70625234 70658709 - 71546786 71580202 - 74034856 74068607 - 1580863;6480464 21145461;10618370;16672232;15489334;15252450;14702039;12477932;11281415;9399828;8388879;18029348;17254600;17643375;18089836;19615732;18347438;18564060;19693936;21812966;22863883;22939629;23221635;16344560;22586326;17558393;21139048;21890473;21906983;21907836;21987572;23048028;21963094;23000965;23349634;22797925 6730 F5H5Y3;K7EN53;K7EQC2;Q9UHB9 ABBA01028761;ABBA01028762;AC040980;AF195951;AK002002;AK027320;AK027322;AK074698;AK092935;AK097962;AK098159;AK126258;AK301100;AL512708;AMYH01008637;AMYH01008638;AU137443;BC000760;BC013308;BC020238;CH471099;CQ783601;DB315535;DQ786315;NM_001260502;NM_001260503;NM_014230;NR_048541 AAF24308;AAH20238;BAB55040;BAB55041;BAC11145;BAG51001;BAG53557;BAG54299;BAG62699;CAF86767;EAW89358;EAW89359;EAW89360;EAW89361;EAW89362;EAW89363;NP_001247431;NP_001247432;NP_055045;Q9UHB9 Hs.514495 1341390;1766885;2219722;5015961;5022322;5037552 D11S2560;D15S1477;D17S1603;D8S2279;SHGC-152313;SRP68__5316 signal recognition particle 68 kDa protein;signal recognition particle subunit SRP68 APPROVED protein-coding ENSG00000167881 11302 05331 604858 REVIEWED 1349288 SRPK3 SRSF protein kinase 3 This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q28 153280137 153284868 + 152699704 152704381 + 153046456 153051187 + 1580863;6480464 16140986;12477932;11063724;14559993;21145461;21139048;21628590 26576 A8MPP7;A8MPY5;E7ETV6;H7C1T4;H7C2I2;Q9UPE1 ABBA01045357;ABBA01045358;AF027406;AK301749;AK314828;AMYH01023301;BC092416;BC117124;CH471172;DQ099381;NG_016329;NM_001170760;NM_001170761;NM_014370;U52111;U82808 AAD00539;AAD01848;AAH92416;AAI17125;AAZ13757;BAG63211;EAW72812;EAW72813;EAW72814;NP_001164231;NP_001164232;NP_055185;Q9UPE1 Hs.104865 1676890;1688084;1856694;2109897;2182202 A004O03;RH12600;RH92620;RH92840;STK23_9495 MGC102944;MSSK-1;MSSK1;STK23 MSSK-1;OTTHUMP00000025939;OTTHUMP00000025940;OTTHUMP00000025943;OTTHUMP00000214780;OTTHUMP00000214781;SFRS protein kinase 3;SR-protein-specific kinase 3;SRSF protein kinase 3;muscle-specific serine kinase 1;serine arginine rich protein-specific kinase 3;serine/arginine-rich protein-specific kinase 3;serine/threonine kinase 23;serine/threonine-protein kinase 23;serine/threonine-protein kinase SRPK3 APPROVED protein-coding ENSG00000184343 11402 06731 REVIEWED 1345951 SRPSMCR signal recognition particle, Smith Magenis syndrome chromosome region 10615134 27167 11308 1348001 SRP9 signal recognition particle 9kDa 1 1 1 q42.12 199156523 199169222 + 224032154 224044787 + 225965515 225978168 + 1580863;6480464;6484113 7730321;18549262;16344560;15635413;15489334;12477932;11089964;9110174;8619474;7518078;2153922;12775420;17154533;20348448;16226712;22863883;22990118;23221635;17500595;22939629;21139048;21890473;21906983;22053931;22174317;22505724 6726 E9PE20;P49458 ABBA01009662;AC099066;AF070649;AK289595;AL050363;AMYH01001774;BC008443;BC015094;BC017414;BC021995;BC022415;BC064351;BC066957;BC067845;BC106005;CH471098;DA983529;DB194289;EF488978;NM_001130440;NM_003133;U20998 AAA70170;AAH08443;AAH15094;AAH17414;AAH21995;AAH22415;AAH64351;AAH66957;AAH67845;AAI06006;ABP02070;BAF82284;CAH56414;EAW69750;EAW69751;EAW69752;EAW69753;NP_001123912;NP_003124;P49458 Hs.511425;Hs.706900 1664650;1687469;5023327;5037552 D8S2279;HSC0JF072;L18023;RH64715 ALURBP;MGC110981 OTTHUMP00000035860;OTTHUMP00000035861;signal recognition particle 9 kDa protein protein-coding ENSG00000143742 11304 02830 600707 VALIDATED 1314481 SRP72 signal recognition particle 72kDa This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 4 4 q11 57028519 57064604 + 57333762 57369847 + 1580863;6480464 20729213;18441046;16672232;15588816;15146197;14702039;12477932;10964510;10618370;9857079;9399828;9224693;8889548;8388879;8125298;2830980;22837378;21145461;15231748;17254600;17643375;18089836;18029348;21073748;23048028;22863883;22939629;16196087;22586326;20639865;21139048;21890473;21906983;21987572;21907836;22541560;18654987;21963094;23000965;23349634;22053931;22505724;22944692 6731 D6RDY6;O76094;R4GNC1 ABBA01003425;ABBA01003426;AC114766;AF038851;AF069765;AF077019;AF086131;AK023480;AK225430;AK307397;AMYH01014194;BC017057;BC032609;BC040134;BC046143;BC056901;BC065018;BC105583;BM985263;BM985419;BX537991;CH471057;CN270014;DB487204;NG_032796;NM_001267722;NM_006947 AAC27324;AAC97490;AAH17057;AAH32609;AAH40134;AAH46143;AAI05584;AAI60164;AAQ13423;CAD97950;EAX05495;EAX05496;EAX05497;EAX05498;NP_001254651;NP_008878;O76094 Hs.237825 1656994;1658717;1683705;1754721;1856175;2146733;5019685 A009E15;G19659;G32470;RH10468;SHGC-133081;SHGC-64104;STS-W93645 BMFF OTTHUMP00000159063;OTTHUMP00000218925;signal recognition particle 72 kDa protein;signal recognition particle subunit SRP72 APPROVED protein-coding 11303 03671 602122;614675 REVIEWED 1317950 SRPK1 SRSF protein kinase 1 This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010] 6 6 p21.31 35908789 35996934 - 35800811 35888957 - 1580863;6480464 16344560;11509566;10196197;17353931;8208298;15034300;19240134;18687337;18342604;18155240;17517895;17360743;17332336;17223538;17081983;16223727;16209947;16122776;15635413;15489334;15324660;14701833;14574404;14559993;14555757;12565829;12477932;12417631;12134018;10390541;10340541;10198174;10049757;9472028;8798720;12565863;18029348;19477182;19553338;19674106;20379614;9237760;20098747;20498328;20708644;21182205;22990118;21832049;22939629;21157427;21728354;21907836;21139048;21693764;21890473;22172722;22019390;22586326;19322201;21628590;21145461;22727668;22952844 6732 B4DS61;D6RB98;D6RBF8;D6RBM8;D6RDZ3;H0Y932;H3BLV9;Q5R363;Q96SB4 ABBA01038243;ABBA01038244;ABBA01038245;ABBA01038246;AJ318054;AK292277;AK299591;AK312712;AMYH01016269;BC038292;BG772464;BX648663;BX648697;CH471081;DB233331;NG_029520;NM_003137;NR_034069;Z99128 AAH38292;BAF84966;BAG61523;CAC39299;EAX03853;EAX03854;EAX03855;EAX03856;EAX03857;EAX03858;EAX03859;EAX03860;NP_003128;Q96SB4 Hs.443861 1650144;1670080;1679009;1778157;1855989;2109885;2127759;2165664 D20S1070;D6S1160E;D6S1875;D6S2425;RH16412;RH45417;SRPK1_8644;WI-22142 SFRSK1 OTTHUMP00000016275;OTTHUMP00000016276;OTTHUMP00000222678;SFRS protein kinase 1;SR protein kinase 1;SR-protein-specific kinase 1;SRSF protein kinase 1;serine/arginine-rich protein-specific kinase 1;serine/arginine-rich splicing factor kinase 1;serine/threonine-protein kinase SRPK1 APPROVED protein-coding ENSG00000096063 11305 15992 601939 REVIEWED 1322997 SRPR signal recognition particle receptor (docking protein) The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010] 11 11 11 q24.2 123297838 123303901 - 125638043 125643960 - 126132814 126138877 - 1580863;6480464 15489334;2827661;15592455;12477932;3340536;3021779;1312991;16169070;21139048;22797925 6734 P08240 ABBA01031226;AI422194;AK130382;AK303379;AK312377;AMYH01004111;AP001318;BC001162;BC008077;BC009110;BC013583;CH471065;CR457025;NM_001177842;NM_003139;X06272 AAH01162;AAH09110;AAH13583;ABM82402;ABM85590;BAG35295;BAG64435;CAA29608;CAG33306;EAW67684;EAW67685;EAW67686;NP_001171313;NP_003130;P08240 Hs.368376 1725575;1742545;2121376;2139852;2146541;2155695;2164674;2164676;2167868;2177209;2177408;5491288 A006D25;A007K32;D11S1237;D11S2242E;D11S4607;D11S4694;D11S4721;G20723;G62012;GDB:197863;RH18082;UniSTS:236631 DP;MGC17355;MGC3650;MGC9571;SRP-alpha;Sralpha DP-alpha;OTTHUMP00000231106;OTTHUMP00000231107;SR-alpha;SRP-alpha;docking protein alpha;signal recognition particle receptor subunit alpha APPROVED protein-coding ENSG00000182934 11307 01645 182180 REVIEWED 1350450 SRPX2 sushi-repeat containing protein, X-linked 2 This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010] X X q21.33-q23 99785819 99812952 + 99899163 99926296 + 737633;6480464;7240710 12477932 19065654;18718938;17942002;16497722;16344560;16303743;15772651;15489334;15342556;11822025;11375929;9864177;20236627;19667118;20858596;22242148;18029348;23115050;209648 27286 O60687 ABBA01064144;ABBA01064145;AF060567;AF393649;AK075462;AL035608;AL390040;AL391688;AMYH01022720;AMYH01022721;AU104738;BC020733;BP279501;BU625416;BX339682;CH471115;DA707631;NG_021337;NM_014467 AAC15765;AAH20733;AAM73693;BAG52145;EAX02812;NP_055282;O60687 Hs.306339 1341292;1694110;1704686;1848145;2170793 AL035142;DXS7762;DXS8103;DXS9763;SHGC-78996 BPP;CBPS;PMGX;RESDX;SRPUL OTTHUMP00000023653;sushi repeat-containing protein SRPX2;sushi-repeat protein up-regulated in leukemia;sushi-repeat-containing protein, X-linked 2 APPROVED protein-coding ENSG00000102359 30668 06726 300642;300643 REVIEWED 1353318 SRRM1P1 serine/arginine repetitive matrix 1 pseudogene 1 8 8 8 q24.21 124279613 124280632 - 128162969 128222291 - 128099755 128100775 - 401475 ABBA01037940;AC020688;AMYH01019012;NG_011412 1687309;1690596 RH76332;RH81049 SRRM1L;SRRM1P APPROVED pseudo 31861 INFERRED 3051030 SRRM1P2 serine/arginine repetitive matrix 1 pseudogene 2 3 3 84729341 84731323 + 83986207 83988189 + 100420834 ABBA01031073;AC092825;AMYH01013315;NG_022252 pseudo 38163 INFERRED 3102881 SRRM1P3 serine/arginine repetitive matrix 1 pseudogene 3 X X X q26.3 136429545 136431978 - 135886164 135895555 - 136065431 136067864 - 100130190 ABBA01065774;AL390879;AMYH01023051;NG_022643 1678701;2165257 DXS7821;RH26405 pseudo 38164 INFERRED 1312944 SRPK2 SRSF protein kinase 2 7 7 q22-q31.1 104544059 104816577 - 104756823 105029341 - 6480464 9472028;17353931;18559500;18425142;16189514;16122776;15592455;15489334;15144186;14702039;12853948;12477932;12134018;10196197;9446799;9171351;8208298;12565863;12417631;21145461;18029348;19592491;19902070;20379614;20498328;21182205;22990118;21832049;21157427;16344560;21890473;22365833;23000965;17620599;18654987;23326445;23049088 6733 C9J2M4;C9JWF7;F8WAV6;F8WBW4;H7C521;H7C5L6;P78362 AACC02000004;ABBA01057958;ABBA01057959;ABBA01057960;AC004884;AC005070;AC073138;AK092977;AK093420;AMYH01017817;AMYH01017818;AMYH01017819;AW086157;AY354201;BC035214;BC068547;BI918658;BM805927;BU632662;CH236947;CH471070;CR746049;DA592321;HY031357;NM_001278273;NM_182691;NM_182692;U88666 AAC05299;AAC29140;AAC29141;AAH35214;AAH68547;AAQ63886;AAS00352;ABM82263;ABM85445;EAW83359;EAW83360;EAW83361;NP_001265202;NP_872633;NP_872634;P78362 Hs.285197 1709730;1713543;2110761;2117319;2130415;2132662;2142374;2144162;2144164;2168518;2176355;7183705 D7S1389;D7S1656;D7S2182;D7S2731;D7S2926;RH120258;RH79016;SHGC-57147;SHGC-84676;SRPK2_8645;WI-20562 FLJ36101;SFRSK2 H_RG152G17.1a;H_RG152G17.1b;OTTHUMP00000212092;OTTHUMP00000212093;OTTHUMP00000212097;SFRS protein kinase 2;SR protein kinase 2;SR-protein-specific kinase 2;SRSF protein kinase 2;WUGSC:H_RG152G17.1a;serine kinase SRPK2;serine/arginine-rich protein-specific kinase 2;serine/arginine-rich splicing factor kinase 2;serine/threonine-protein kinase SRPK2 APPROVED protein-coding ENSG00000135250 11306 04280 602980 VALIDATED 6767415 SRRM2-AS1 SRRM2 antisense RNA 1 16 p13.3 2787077 2802601 - 14702039 100128788 Q6ZUC4 ABBA01026713;AC092117;AK056063;AK098626;AK125806;AMYH01007082;AMYH01007083;DB448439;NR_027274;NR_027275 BAC86301 Hs.311208 5015861;5037552;7185938 D10S16;D8S2279 APPROVED miscrna ENSG00000205913 44162 VALIDATED 733583 SRPX sushi-repeat containing protein, X-linked X X p21.1 37893536 37965075 - 38008588 38080177 - 1580863;6480464 8634709;12493773;8634708;19424611;15772651;15489334;15021917;12874760;12716466;12477932;12152160;9162095;21145461;16344560;19596235;19615732;19862339;8889548;20406461;209648 8406 Q99652 ABBA01047047;ABBA01047048;ABBA01047049;ABBA01047050;ABBA01047051;AK125542;AK289430;AK293127;AK298802;AL121578;AL133494;AL606748;AL627246;AMYH01022211;BC020684;BM672597;CH471141;DA422854;DC388035;NG_016373;NM_001170750;NM_001170751;NM_001170752;NM_006307;S82496;U61374;U78093 AAB36685;AAB37378;AAB37379;AAB40715;AAH20684;BAF82119;BAG54210;BAG56679;BAG60937;EAW59445;EAW59446;EAW59447;NP_001164221;NP_001164222;NP_001164223;NP_006298;P78539 Hs.15154 1702970;1772180;2108525;2112864;2112866;2112868;2112870;2112872;2112874;2112876;2112878;2115747;2139565;5493876 DXS1450;DXS9858;DXS9859;DXS9860;DXS9861;DXS9862;DXS9863;DXS9864;DXS9865;RH79074;SHGC-36486;SRPX;SRPX_8801;WI-18588 DRS;ETX1;SRPX1 OTTHUMP00000023141;sushi repeat-containing protein SRPX;sushi-repeat-containing protein;sushi-repeat-containing protein, X chromosome;sushi-repeat-containing protein, X-linked APPROVED protein-coding ENSG00000101955 11309 02175 300187 VALIDATED 1352406 SRR serine racemase 17 17 p13 2153998 2175303 + 2207248 2228553 + 1580863;6480464;6907045 11054547;19223009;17880399;17697119;17413456;17413455;17067558;16837850;16446740;15953485;15536068;15489334;15219883;15193426;14702039;12621583;12560076;12477932;8125298;12021263;16314870;18583979;15681805;18812225;19483194;19584346;20106978;20174558;16751776;20385472;16714286;21378990;22801410;21832049;22117694;22096510;21139048;22151352;23112234;23319000 63826 I3L3N0;I3L4B4;I3L4L3;I3L4W4;Q3ZK31;Q9GZT4 ABBA01054699;ABBA01054700;ABBA01054701;AF169974;AK023169;AK223120;AL450226;AL834378;AMYH01008010;AMYH01008011;AMYH01008012;AY034081;AY743705;AY743706;AY743707;AY743708;BC057234;BC074728;CH471108;CR457300;GN098580;HB921024;HC978433;NM_021947 AAG27081;AAH74728;AAK58495;AAW66460;AAW66461;AAW66462;AAW66463;BAB14442;BAD96840;CAD39041;CAG33581;CAY04175;CBF95504;CBV09024;EAW90553;EAW90554;EAW90555;NP_068766;Q9GZT4 Hs.461954 1652759;1734426;2122304;2140500;2165600;2184645;5093600 A009S27;D17S1400E;D17S1682;G32814;HSC2GF012;IB3555;RH47913 ILV1;ISO1 D-serine ammonia-lyase;D-serine dehydratase;L-serine ammonia-lyase;L-serine dehydratase;OTTHUMP00000115699;serine racemase protein-coding ENSG00000167720 14398 10451 606477 PROVISIONAL 1312294 SRPRB signal recognition particle receptor, B subunit The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 131929996 131966138 + 135007367 135022213 + 133502877 133540336 + 1580863;6480464 17353931;17080297;16303743;15489334;14702039;12918107;12477932;10459008;7844142;18344599;21145461;19322201;17207965;16169070;19615732;19664239;21665994;22939629;21139048;21890473;21906983;18781797;21343306;21726808;21987572;19084217;22505724 58477 C9J5Z8;H7C4H2;Q549N5;Q9Y5M8 ABBA01059163;ABBA01059164;AC080128;AF086914;AF141882;AK027307;AK027525;AK075531;AMYH01013511;BC019005;BC063001;BC065299;CH471052;CS051373;DB448771;NM_021203 AAD34888;AAH63001;AAH65299;AAP97144;ADQ32575;BAB55176;BAC11675;CAI72181;EAW79160;EAW79161;EAW79162;NP_067026;Q9Y5M8 Hs.12152 1666105;1668596;1701038;1733816;1733818;1777814;2120250;2124507;2127289;5092854;7184877 A009B03;D3S1484;D3S1485;D3S2906E;D3S3323;G32372;RH104146;RH11713;WI-13553;WI-17961 APMCF1 OTTHUMP00000216377;SR-beta;signal recognition particle receptor subunit beta;signal recognition particle receptor, beta subunit APPROVED protein-coding 24085 18105 REVIEWED 1606069 SRRD SRR1 domain containing 22 22 22 q12.1 10683724 10691766 + 25209850 25217904 + 26879850 26887904 + 6480464 18029348;18293417;16344560;15489334;12477932;10591208;8889548;8806657 402055 Q9NNX4;Q9UH36 ABBA01055200;AK293916;AMYH01012684;BC066962;BQ189353;CH471095;DA325985;NM_001013694;U63541;Z99714 AAF77225;AAH66962;BAG57298;CAB62929;EAW59721;NP_001013716;Q9UH36 Hs.709914 1660916;1665785;1849017;2175031 A007C16;D22S615;RH66366;STS-N30363 HC/HCC;SRR1L OTTHUMP00000198652;SRR1 domain-containing protein;SRR1-like protein;hepatocellular carcinoma complicating hemochromatosis protein-coding ENSG00000100104 33910 18437 602254 VALIDATED 1343475 SRS Snyder-Robinson X-linked mental retardation syndrome 7240710 6735 11310 309583 1322619 SRRM1 serine/arginine repetitive matrix 1 1 1 p36.11 24842181 24872359 + 24969594 24999772 + 1580863;6480464;6907045 9531537;17353931;12226669;17081983;16964243;16710414;16354706;16159877;15489334;15345747;15324660;15302935;15144186;15024032;12944400;12624182;12600940;12581738;12477932;12093754;11991638;11991360;11739730;11546874;11118221;10908574;10809668;10668804;10339552;9933612;9472028;21145461;11101529;16055720;22939629;23084401;20508642;21182205;22990118;17332742;19322201;16051665;19596686;21139048;21693764;21890473;19531213;22586326;15998806;22944692;22952844 10250 A9Z1X7;B4DED5;E9PCT1;M0QXG5;M0R088;M0R1E7;Q8IYB3 ABBA01059910;ABBA01059911;AF048977;AF419855;AK293576;AK302498;AK307419;AK307568;AL445648;AL445686;AMYH01000372;BC011019;BC017315;BC036187;BG720378;CH471134;CX782666;NM_005839 AAC09321;AAH36187;AAP97290;BAG57046;BAH13726;EAW95138;EAW95139;EAW95140;NP_005830;Q8IYB3 Hs.18192 1678701;1687558;1690596 RH26405;RH40469;RH76332 160-KD;MGC39488;POP101;SRM160 OTTHUMP00000003373;OTTHUMP00000003374;SR-related nuclear matrix protein of 160 kDa;Ser/Arg-related nuclear matrix protein;plenty of prolines 101-like;serine/arginine repetitive matrix protein 1 protein-coding ENSG00000133226 16638 10441 605975 VALIDATED 1320904 SRRM2 serine/arginine repetitive matrix 2 16 16 p13.3 2742331 2761414 + 2802330 2821413 + 6480464 21145461;17620599;19531213;22586326;15345747;15616553;15489334;15324660;15302935;15144186;14578391;12477932;11991638;11004489;10908574;10668804;9531537;9205841;15778465;17353931;17081983;16964243;16565220;16083285;17577209;19615732;19789211;19854871;20161708;16055720;16159877;21182205;22990118;20508642;20811636;17332742;21832049;22939629;18029348;21252943;16051665;19471022;19596686;21139048;21693764;21890473;21906983;21628590;22190034;22952844 23524 I3L0N7;I3L182;I3L1C0;I3L1I8;I3L1W5;I3L3Q8;I3L4D8;I3L4U6;Q8IW17 AB002322;AB015644;AB016087;AB016088;AB016089;AB016090;AB016091;AB016092;ABBA01026713;AC004493;AC092117;AF201422;AI083775;AK025579;AK025903;AL833672;AMYH01007083;AMYH01007084;BC007752;BC009062;BC020639;BC028054;BC032416;BC041155;BC046104;BC070050;BC107087;BX647088;CH471112;HI574200;NM_016333 AAC08453;AAF21439;AAH07752;AAH09062;AAH20639;AAH41155;AAH46104;AAH70050;AAI07088;BAA20782;BAA34957;BAA83713;BAA83714;BAA83715;BAA83716;BAA83717;BAA83718;CAI46153;CBX47589;EAW85477;EAW85478;EAW85479;EAW85480;EAW85481;EAW85482;EAW85483;NP_057417;Q9UQ35 Hs.433343 1677648;1678479;1687177;1736552;1736564;1777628;1846674;2110763;2132171;2150458;2185534;5491685;7185401;7185597 D16S2549E;D16S2558E;D16S436E;D16S439E;D9S2087;MARC_7863-7864:996688108:1;RH92618;SHGC-61065;SHGC-61169;SHGC-61375;SRRM2_9362;STS-M78867 300-KD;CWF21;Cwc21;DKFZp667L0421;DKFZp686O15166;FLJ21926;FLJ22250;KIAA0324;MGC40295;SRL300;SRm300 300 kDa nuclear matrix antigen;RNA binding protein;SR-related nuclear matrix protein of 300 kDa;ser/Arg-related nuclear matrix protein of 300 kDa;serine/arginine repetitive matrix protein 2;serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa;splicing coactivator subunit SRm300;tax-responsive enhancer element-binding protein 803;taxREB803 protein-coding ENSG00000167978 16639 06913 606032 VALIDATED 1601811 SRRM3 serine/arginine repetitive matrix 3 7 7 7 q11.23 70699693 70785104 + 75752311 75754554 + 75831216 75916605 + 6480464 15489334;14702039;12853948;12477932 222183 A6NNA2;F5GYC8;H7C383 ABBA01005905;ABBA01005906;ABBA01005907;ABBA01005908;ABBA01005909;ABBA01005910;ABBA01005911;ABBA01005912;AC005077;AK092590;AK094397;AMYH01017561;AMYH01017562;AMYH01017563;AMYH01017564;BC029292;BC045627;BC063788;BC071856;BC096755;BE466083;CA949697;NM_001110199 A6NNA2;BAC03922;BAC04346;NP_001103669 Hs.511025 1693840;1699108;1732664;1769615;2126351;2133305;7184847 D7S1515;G42608;GDB:1318669;GDB:4585178;RH103130;SHGC-30726 FLJ35271;FLJ37078 OTTHUMP00000161056;SRRM2-like protein;serine/arginine repetitive matrix protein 3 APPROVED protein-coding ENSG00000177679 26729 08219 PROVISIONAL 1350808 SRSF10P1 serine/arginine-rich splicing factor 10 pseudogene 1 18 18 q21.2 46938646 46939721 - 48684648 48685754 - 100130799;387613 ABBA01018687;AC090330;AMYH01009000;NG_030046 FUSIP1P;HsT2687;SFRS13AP1 APPROVED pseudo 31002 INFERRED 1626567 SRSF10P2 serine/arginine-rich splicing factor 10 pseudogene 2 20 20 20 p12.3 7881949 7882670 - 7760348 7761069 - 7812348 7813069 - 11891055;23263487 171472 ABBA01053916;AL031679;AMYH01011701;NG_001017 FUSIP1P2;SFRS13AP2;dJ836E8.1;pFUSIP1 APPROVED pseudo 24823 INFERRED 1603376 SRRM4 serine/arginine repetitive matrix 4 SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009] 12 12 12 q24.23 119052537 119234002 + 117903779 118085240 + 119419300 119600856 + 6480464 14702039;12800201;12477932;11347906;19737518;20379614;8889548;21078624;23251661 84530 A7MD48 AB058756;ABBA01020067;ABBA01020068;ABBA01020069;ABBA01020070;AC084361;AC087885;AK055717;AK125400;AK291361;AMYH01004788;AY130006;BC152471;BC167162;BC167163;BM680369;CH471054;H10301;NM_194286 A7MD48;AAI52472;AAI67162;AAI67163;AAI67787;AAN05090;BAB47482;BAF84050;EAW98142;NP_919262 Hs.744964 1338992;1685043;1726299;2114004;2178931;5023733 AB046029;AU048745;D12S385;G62450;RH94152;STS-H10302 KIAA1853;MGC176729;MU-MB-2.76;nSR100 OTTHUMP00000239767;medulloblastoma antigen MU-MB-2.76;neural-specific SR-related protein of 100 kDa;neural-specific serine/arginine repetitive splicing factor of 100 kDa;serine/arginine repetitive matrix protein 4 APPROVED protein-coding ENSG00000139767 29389 13897 613103 VALIDATED 4889751 SRSF1P1 serine/arginine-rich splicing factor 1 pseudogene 1 13 13 13 q21.33 50884226 50884831 - 68880263 68880857 - 69982262 69982867 - 100128625 ABBA01050307;AL355478;AMYH01005192;NG_011455 pseudo 39417 INFERRED 2801093 SRRM5 serine/arginine repetitive matrix 5 19 19 q13.31 40918748 40921145 + 44116253 44118650 + 12477932;14702039;8889548 100170229 B3KS81;E9PQB1;Q4G0Z0 ABBA01040863;AC006276;AK093056;AMYH01009840;BC034980;BM679887;NM_001145641 AAH34980;B3KS81;BAG52643;NP_001139113 Hs.722032 FLJ35737;ZNF576 serine/arginine repetitive matrix 5;serine/arginine repetitive matrix protein 5;zinc finger protein 576, isoform 2 protein-coding ENSG00000226763 37248 VALIDATED 1343968 SRSF11 serine/arginine-rich splicing factor 11 This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010] 1 1 1 p31 68961312 69007634 + 70443953 70490272 + 70671365 70717703 + 1580863;6480464 17353931;1896467;12226669;18029348;18832053;17081983;16943417;14729963;14702039;12477932;10606266;9756848;8816452;21145461;17361132;19857271;20379614;20516191;16055720;22939629;20811636;17342744;21139048;21890473;22379092;21628590 9295 B4DTC1;B4DWT1;Q05519;Q5T757;Q5T760 AB062486;ABBA01074488;AF086515;AK021742;AK300147;AK301670;AK310447;AK310666;AK311184;AL353771;AL832279;AMYH01000699;AW084230;BC002784;BC009840;BC017359;BC022815;BC032727;BC040436;BX537679;BX640645;BX641004;CH471059;M74002;NM_001190987;NM_004768 AAA35554;AAH02784;AAH09840;AAH17359;AAH32727;AAH40436;BAB93511;BAG61933;BAG63143;CAE45791;CAE46007;CAI46272;EAX06458;EAX06459;NP_001177916;NP_004759;Q05519 Hs.479693 1334854;1661682;1675927;1723999;1751899;1757553;1852514;1856875;2142023;2146347;2160608;2183646;2217966;5113482;5126069;7186790 AL009622;AL010013;D1S3538;D1S462;G34882;RH11749;RH118951;RH39850;RH45412;RH69172;RH70428;SFRS11_3927;SHGC-105818;SHGC-145019;WI-18827 DKFZp686M13204;FLJ18226;NET2;SFRS11;dJ677H15.2;p54 OTTHUMP00000010935;OTTHUMP00000010936;OTTHUMP00000010937;OTTHUMP00000010938;SR splicing factor 11;arginine-rich 54 kDa nuclear protein;serine/arginine-rich splicing factor 11;splicing factor p54;splicing factor, arginine/serine-rich 11 APPROVED protein-coding ENSG00000116754 10782 03599 602010 REVIEWED 1604811 SRRT serrate RNA effector molecule homolog (Arabidopsis) 7 7 7 q21 95203280 95216866 + 100310671 100324221 + 100472701 100486285 + 6480464 17353931;11239002;19632182;18086880;17672918;17081983;16964243;16344560;16169070;15489334;15345747;15302935;15009096;12869526;12690205;12477932;11230166;10069470;17332742;20639392;19546234;22863883;23022380;21832049;22939629;19471022;22079093;21139048;21890473;21906983;22244333;22266860;22446626;21628590;18654987;21988832;22113938;22213145;22365833;23000965;21145461;15998806;22990020;22053931;22505724 51593 C9JUL9;F8WE54;H7C0U8;H7C159;H7C1K0;H7C3A1;Q6NT74 ABBA01013176;AC011895;AF082871;AF112994;AF237614;AF248955;AF312032;AK296131;AK302820;AK311728;AL096723;AMYH01017746;AW770857;BC000082;BC069249;BC109116;BC109117;BE247268;BE297447;BF515651;BG477711;BG685713;BQ059529;CH236956;CH471091;DA611314;NM_001128852;NM_001128853;NM_001128854;NM_015908 AAD17774;AAG24951;AAH00082;AAH69249;AAI09118;AAK21005;AAK21006;AAM00189;AAP97227;BAG58876;BAG64018;CAB46374;EAL23815;EAL23816;EAW76465;EAW76466;EAW76467;NP_001122324;NP_001122325;NP_001122326;NP_056992;Q9BXP5 Hs.111801 1664660;1667972;1673320;1853935;2135342;2166527;5123110 A002D09;GDB:4585149;GDB:4585547;GDB:4585581;RH18532;SHGC-30159;WI-20788 ARS2;ASR2;MGC126427;serrate OTTHUMP00000211333;OTTHUMP00000211334;OTTHUMP00000211335;OTTHUMP00000211336;arsenate resistance protein 2;arsenate resistance protein ARS2;arsenite resistance protein;arsenite-resistance protein 2;serrate RNA effector molecule homolog protein-coding ENSG00000087087 24101 10665 614469 VALIDATED 1606967 SRSF12 serine/arginine-rich splicing factor 12 6 6 6 q15 90223565 90245681 - 89862397 89884519 - 89805678 89827800 - 6480464 11684676;15489334;15342556;14702039;12477932;20516191;23084401 135295 E5RFT0;E5RJS0;Q8WXF0 AA889416;ABBA01040524;ABBA01040525;AF449428;AK090803;AK123215;AK314008;AL353135;AMYH01016498;BC021715;BP244338;CH471051;NM_080743 AAH21715;AAL57515;ABM82996;ABM86189;BAG36719;BAG53879;EAW48561;EAW48562;NP_542781;Q8WXF0 Hs.254414 FLJ14459;FLJ33484;FLJ41221;RP11-63L7.3;SFRS13B;SFRS19;SRrp35 35 kDa SR repressor protein;OTTHUMP00000016846;SR splicing factor 12;serine-arginine repressor protein (35 kDa);serine/arginine-rich splicing factor 12;splicing factor, arginine/serine-rich 13B;splicing factor, arginine/serine-rich 19 APPROVED protein-coding ENSG00000154548 21220 11605 VALIDATED 1322327 SRSF10 serine/arginine-rich splicing factor 10 This gene product is a member of the serine-arginine (SR) family of proteins, which is involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein can influence splice site selection of adenovirus E1A pre-mRNA. It interacts with the oncoprotein TLS, and abrogates the influence of TLS on E1A pre-mRNA splicing. This gene has multiple pseudogenes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. In addition, transcript variants utilizing alternative polyA sites exist.[provided by RefSeq, Jul 2010] 1 1 p36.11 24165526 24179408 - 24292935 24306953 - 1580863;6480464;6907045 9774382;11684676;17936706;17081983;16135820;15489334;15324660;15302935;14765198;14702039;14559993;12477932;12419250;11891055;11790298;10779324;9110174;8619474;8125298;17353931;15778465;21145461;20516191;17207965;10583508;17361132;20232416;21135127;22990118;23084401;22939629;21984158;21628590;21139048;22113938;22365833;23251661 10772 Q5JRI1;Q5JRI2;Q6IQ42;R4GMP8 AA808243;ABBA01059894;AF047448;AF067730;AF419331;AF419332;AF449427;AK001286;AK001479;AK001656;AK054635;AK055311;AK093226;AK125834;AK222994;AK296175;AL133655;AL590609;AMYH01000367;AX876414;AX971644;AY007101;AY048592;AY150180;AY150181;BC001107;BC005039;BC010074;BC071575;BX511012;BX648939;CH471134;NM_001191005;NM_001191006;NM_001191007;NM_001191009;NM_006625;NM_054016;NR_034035 AAC26727;AAC70918;AAH01107;AAH05039;AAH10074;AAH71575;AAL06098;AAL06099;AAL16665;AAL16666;AAL57514;AAN65380;AAN65381;ADQ33177;BAA91601;BAD96714;BAG50956;BAG51498;BAG54253;BAG58911;CAE89263;CAF16752;EAW95103;EAW95104;EAW95105;EAW95106;EAW95107;NP_001177934;NP_001177935;NP_001177936;NP_001177938;NP_006616;NP_473357;O75494 Hs.3530 1848790;2150607;2175749;5014039;5015619;5015881;5015961;5016478;5022047;5022425;5024756;5037552 D11S3114;D15S1477;D1S2514;D20S621;D22S1584;D22S296;D8S2279;Fusip1;GDB:335751;GDB:434012;HUM00TW133;RH80030 DKFZp686H0644;FLJ30749;FLJ43846;FUSIP1;FUSIP2;NSSR;SFRS13;SFRS13A;SRp38;SRrp40;TASR;TASR1;TASR2 40 kDa SR-repressor protein;FUS-interacting protein (serine-arginine rich) 2;FUS-interacting serine-arginine-rich protein 1;OTTHUMP00000015773;OTTHUMP00000015774;OTTHUMP00000015775;OTTHUMP00000015776;OTTHUMP00000015777;OTTHUMP00000015778;SR splicing factor 10;TLS-associated SR protein;TLS-associated protein TASR;TLS-associated protein with SR repeats;TLS-associated protein with Ser-Arg repeats;TLS-associated serine-arginine protein 1;TLS-associated serine-arginine protein 2;neural-salient SR protein;serine-arginine repressor protein (40 kDa);serine/arginine-rich splicing factor 10;splicing factor SRp38;splicing factor, arginine/serine-rich 13;splicing factor, arginine/serine-rich 13A APPROVED protein-coding ENSG00000188529 16713 05562 605221 REVIEWED 1350049 SRSF1 serine/arginine-rich splicing factor 1 This gene encodes a member of the arginine/serine-rich splicing factor protein family, and functions in both constitutive and alternative pre-mRNA splicing. The protein binds to pre-mRNA transcripts and components of the spliceosome, and can either activate or repress splicing depending on the location of the pre-mRNA binding site. The protein's ability to activate splicing is regulated by phosphorylation and interactions with other splicing factor associated proteins. Multiple transcript variants encoding different isoforms have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 13. [provided by RefSeq, Sep 2010] 17 17 q22 53433279 53439706 - 56078280 56084707 - 1580863;6480464;6907045 10196197;15184380;15243141;15652350;17353931;1830244;12226669;19464723;19250906;19116412;19111562;19073146;18945764;18841201;18832178;18687337;18586677;18495665;18439897;18315555;18243119;18155240;17959926;17670832;17310252;17081983;16721827;16611940;16505493;16344560;16260492;16223727;16210245;16189514;16096057;15907217;15782174;15635413;15592455;15546619;15489334;15456888;15452250;15367627;15210956;15208309;15163745;15123677;14559993;14555757;12612063;12565863;12525645;12477932;12270705;12221105;12215544;12135490;11991638;11967326;11825891;11801589;11790298;11779509;11683387;11418604;11285240;11101529;10843177;10757789;10713112;10390541;10366588;10225947;10022843;9885563;9799243;9671816;9611241;9473574;9472028;9447963;9420331;9237760;9023367;8816452;8798720;8626563;8617202;8530103;8261509;8223481;8208298;8189522;8139654;8125298;7543047;7512732;1855257;1741384;1577277;12234937;17332742;17609381;21145461;21536904;17517895;9685421;14623875;20519389;20120036;16982639;17786225;19441081;19477182;19602482;19633418;19657567;19710015;20085707;20118245;20139984;20308322;20385090;20516191;8639538;20637698;20211142;20682707;20805487;19857271;20657585;22318606;22446626;20923760;21045158;16376875;21832049;22454513;22939629;22855529;22545246;23084401;23184937;19561594;21297941;20508642;16196087;21622622;15848144;16051665;18457437;20360068;21078624;21081666;21668763;21907836;17361185;19322201;20639865;21139048;21549307;21890473;21906983;22245967;15998806;16000324;18391021;22839530;15798186;19738201;21963094;21988832;22053931;22094256;22365833;23349975;23000965;23228155;23319613;23398456;23478443;23537643;23462647;19004959;19716452;19966273;20668893;21853274;22505724;22952844;19523114;21182205;22990118 6426 J3KSR8;J3KSW7;J3KTL2;J3QQV5;Q07955;Q59FA2 AB062124;AB209558;ABBA01041324;AC015813;AK225711;AK289933;AK298527;AK312781;AMYH01008510;BC010264;BC033785;CB044653;CH471109;DA939911;M69040;M72709;NM_001078166;NM_006924;NR_034041 AAA03476;AAA35564;AAA35565;AAH10264;AAH33785;BAB93456;BAD92795;BAF82622;BAG35644;BAH12806;EAW94485;EAW94486;EAW94487;EAW94488;EAW94489;EAW94490;EAW94491;EAW94492;NP_001071634;NP_008855;Q07955 Hs.68714 1794018;1847121;2124282;2190895;2190979 MARC_10441-10442:999637620:1;MARC_12219-12220:1004719985:1;PMC310730P5;STS-N39109;WI-18389 ASF;FLJ53078;MGC5228;SF2;SF2p33;SFRS1;SRp30a ASF-1;SR splicing factor 1;alternative-splicing factor 1;pre-mRNA-splicing factor SF2, P33 subunit;serine/arginine-rich splicing factor 1;splicing factor 2;splicing factor, arginine/serine-rich 1 APPROVED protein-coding 10780 02887 600812 REVIEWED 1319459 SRSF3 serine/arginine-rich splicing factor 3 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010] 6 6 p21 36670144 36679187 + 36562090 36572244 + 6480464;6907045 9647638;2030943;15169763;12226669;19250906;19047369;18952824;18945760;17183366;17081983;17028590;16713569;15827065;15489334;15324660;15231747;14702039;14559993;12890497;12634307;12477932;11991645;11790298;11336712;10823932;10809782;10757789;10390541;17332742;10809668;17267499;21145461;22623141;9447963;9420331;8208298;1577277;9472028;17353931;16341674;19857271;20639886;20810723;16159877;21179588;17036044;17643375;19602482;20085707;20227104;20376328;20516191;21832049;22939629;20856201;21182205;21611201;20508642;22205602;19928837;21151833;21779168;22318606;22586326;21907836;22777358;23398456;23463506;21139048;21890473;21906983;23084401;23383273;18974867;23255796;19738201;22365833;23000965;23151878;23233666;22788679;22505724;22921020 6428 B2R6F3;B4E241;P84103 AB451229;AB451352;ABBA01038263;AF107405;AK091927;AK095580;AK304097;AK310317;AK312553;AMYH01016275;BC000914;BC069018;BM833102;BT007017;CH471081;DC398250;L10838;NM_003017;NR_036610;Z85986 AAA36648;AAD44523;AAH00914;AAH69018;AAP35663;BAG35450;BAG65003;BAG70043;BAG70166;EAX03898;EAX03899;EAX03900;EAX03901;EAX03902;EAX03903;NP_003008;P84103 Hs.405144 1648779;1656520;1769634;1798150;1813230;2140386;2177453;2181515 D6S1788;ECD07635;RH18481;RH78275;SFRS3_1875;STS-H70468;STS-L10838;WI-11748 SFRS3;SRp20 OTTHUMP00000016294;pre-mRNA-splicing factor SRP20;serine/arginine-rich splicing factor 3;splicing factor, arginine/serine-rich 3;splicing factor, arginine/serine-rich, 20-kD APPROVED protein-coding 10785 04530 603364 REVIEWED 1343626 SRSF2 serine/arginine-rich splicing factor 2 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010] 17 17 q25.1 72241792 72245007 - 74730197 74733493 - 1580863;6480464;6907045 11101529;9447963;15652350;8530103;12226669;15798186;19177009;19005234;18806759;18586677;18025108;17353911;17081983;16990281;16964243;16761280;16713569;15907217;15798212;15511225;15489334;15302935;15208309;15123677;14703516;14702039;14684736;14559993;12837281;12665590;12565890;12477932;12239324;11991645;11980906;11967326;11790298;11779509;11683997;11683387;11448987;11313942;11239462;11101696;10757789;10082253;9774382;9601515;9541613;9513048;9473574;9358160;9237760;8816452;8361546;8302870;8261509;8139654;8125298;7546906;7543047;3031469;1577277;1557353;1465383;1373910;9472028;10983978;10908574;17353931;11090190;10893273;22919025;22932795;21145461;20547768;16344560;19857271;20703835;20580447;22318606;22586326;20615469;12799190;15988025;16052631;19648116;19843576;20085707;20516191;21333649;16159877;21157427;21182205;22990118;22968464;22140111;22389253;17361185;17332742;22431577;22238327;20360068;21139048;21890473;21906983;21907836;22323480;15184380;15998806;22863587;22939629;23280334;21963094;22094256;22113938;22365833;23000965;23335386;22505724;23084401 6427 B4DN89;J3KP15;J3QL05;Q01130;Q53FN0 ABBA01028731;AC005837;AK092489;AK093626;AK097069;AK098209;AK123712;AK124792;AK126432;AK223252;AMYH01008649;BC000339;BC001303;BC066958;BC070086;BT007250;CH471099;CQ859722;DA513281;DC361254;EB388696;L03693;M90104;NG_032905;NM_001195427;NM_003016;NR_036608;X62447;X75755 AAA60162;AAA60306;AAH00339;AAH01303;AAH66958;AAH70086;AAP35914;ABM82136;ABM85319;BAC03903;BAC04206;BAD96972;BAG53419;BAG53593;BAG53944;BAG54097;BAG54327;CAA44307;CAA53383;CAH25911;EAW89439;EAW89440;EAW89441;EAW89442;EAW89443;EAW89444;EAW89445;EAW89446;EAW89447;EAW89448;NP_001182356;NP_003007;Q01130 Hs.584801 1663857;1767713;1852762;2167324;5105599 A004Z40;D4S2570E;RH11488;SHGC-12848;SHGC-132110 PR264;SC-35;SC35;SFRS2;SFRS2A;SRp30b SR splicing factor 2;serine/arginine-rich splicing factor 2;splicing component, 35 kDa;splicing factor SC35;splicing factor, arginine/serine-rich 2 APPROVED protein-coding ENSG00000161547 10783 02888 600813 REVIEWED 1353282 SRSF9P1 serine/arginine-rich splicing factor 9 pseudogene 1 21 21 21 q22.12 22865535 22866496 - 36588999 36589923 - 37667129 37668090 - 10830953 54021 ABBA01057391;AMYH01012226;AP000692;AP001725;NG_000902 SFRS9P1 APPROVED pseudo 10792 INFERRED 1350526 SRSF4 serine/arginine-rich splicing factor 4 This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq, Feb 2009] 1 1 p35.3 29346946 29380948 - 29474250 29508637 - 1580863;6480464;6907045 8321209;12226669;17361132;17081983;16710414;15761153;15592455;15489334;14578391;14559993;12581738;12477932;10983978;10390541;9531537;9447963;8125298;7651409;1577277;16169070;14623875;8208298;16189514;20685659;19857271;17267499;21145461;19759008;20516191;22939629;16159877;22990118;23084401;15009664;20508642;21723381;21252943;22446626;22586326;17361185;21628590;17332742;21139048;21890473;18272582 6429 F6T1J1;Q08170 AB209856;ABBA01035078;ABBA01035079;AC004236;AK223444;AK291509;AK293706;AK310528;AL357500;AL590729;AMYH01000442;BC002781;BT007415;CH471059;CV814357;DC391985;L14076;NM_005626 AAA36649;AAC04476;AAH02781;AAP36083;ABM84772;BAD93093;BAD97164;BAF84198;BAG57139;EAX07657;EAX07658;EAX07659;NP_005617;Q08170 Hs.469970 1653558;1663437;1846956;2116588;2144006;5015621;5015961;5021872;5022200 A009X34;D11S3732;D15S1477;D1S2417;L18426;RH17621;SGC33616;SHGC-74500;sY3084 SFRS4;SRP75 OTTHUMP00000003790;SR splicing factor 4;SRP001LB;pre-mRNA-splicing factor SRP75;serine/arginine-rich splicing factor 4;splicing factor, arginine/serine-rich 4 APPROVED protein-coding ENSG00000116350 10786 09052 601940 REVIEWED 1602725 SRSF8 serine/arginine-rich splicing factor 8 This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] 11 11 11 q22 92087872 92092210 + 94439704 94444036 + 94800056 94804388 + 6480464;6907045 16344560;14702039;14559993;12477932;11058868;9671500;20516191;17361132;21832049;21906983;17361185;19322201;18281098;21890473;21963094;23000965;23398456;22505724;23084401 10929 Q9BRL6 ABBA01040020;AF031165;AF031166;AJ270685;AK023379;AK312514;AMYH01003965;AP001264;BC057783;CB215027;CH471065;CV805885;DA723253;DA882851;FP929014;NM_032102;NR_103726 AAH57783;AAK54350;AAK54351;BAG35415;BAG51186;EAW66954;EAW66955;EAW66956;NP_115285;Q9BRL6 Hs.476680;Hs.703293 1657905;1663857;1730191;1733304;2109883;5015619;5037552;5118877;7184790 A004Z40;D11S1927;D11S3114;D11S3745;D11S953E;D8S2279;RH69465;SRP46_9197 DSM-1;SFRS2B;SRP46 SR splicing factor 8;pre-mRNA-splicing factor SRP46;serine/arginine-rich splicing factor 8;splicing factor SRp46;splicing factor, arginine/serine-rich 2B;splicing factor, arginine/serine-rich, 46kD APPROVED protein-coding 16988 04466 603269 REVIEWED 734021 SRSF5 serine/arginine-rich splicing factor 5 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2010] 14 14 q24 69303582 69308475 + 70233829 70238722 + 729792;1580863;6480464;6907045 7686911 14759258;21145461;12762840;7556075;12226669;17081983;16990281;16103121;15489334;15302935;15163745;15123677;12665590;12477932;9531537;9434190;9244433;9110174;8619474;1577277;9472028;10983978;9799243;16169070;14623875;10390541;8208298;14559993;20427542;19857271;15761153;19843576;20376328;20516191;20508642;21182205;22863883;22939629;22990118;22205602;18029348;22100336;15840729;18624398;20360068;21139048;21890473;21900206;21906983;17332742;21907836;22586326;16429130;21628590;16000324;23084401;19004959;22053931;22933280 6430 B4DJK0;B4DUA4;G3V5K8;Q13243 AA640719;AB209804;AB451250;AB451374;ABBA01030825;AF020307;AF070562;AK296113;AK300560;AK311805;AL157789;AMYH01005826;BC018823;BC029984;BC040209;BC095420;BF213008;BT007089;BU928782;BX247988;BX640605;CH471061;CR542167;CR542182;NM_001039465;NM_006925;U30826;U30827;U30884 AAA93070;AAA93074;AAB60405;AAC39543;AAH18823;AAH40209;AAP35752;BAD93041;BAG34748;BAG58862;BAG62266;BAG70064;BAG70188;CAD62322;CAE45711;CAG46964;CAG46979;EAW81002;EAW81003;EAW81004;EAW81005;EAW81006;EAW81007;EAW81008;EAW81009;EAW81010;NP_001034554;NP_008856;Q13243 Hs.632326 1645779;1847998;1848000;1856566;1857907;2132791;2174107;5015619;5021872;5037552 A001W22;D11S3114;D14S1316;D8S2279;G19714;G31139;HSC2JH112;RH66199;SHGC-35665;sY3084 HRS;SFRS5;SRP40 OTTHUMP00000245517;OTTHUMP00000245518;OTTHUMP00000245519;OTTHUMP00000245520;SR splicing factor 5;delayed-early protein HRS;pre-mRNA-splicing factor SRP40;serine/arginine-rich splicing factor 5;splicing factor, arginine/serine-rich 5 APPROVED protein-coding ENSG00000100650 10787 600914 REVIEWED 1342668 SRSF6 serine/arginine-rich splicing factor 6 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010] 20 20 q12-q13.1 41519932 41525655 + 42086504 42092245 + 1580863;6480464;6907045 16189514;21345357;17353931;7556075;12226669;19165527;18571879;18315555;17081983;16341674;15635413;15489334;15302935;14559993;12779084;12549978;12549914;12531473;12477932;11780052;11549316;10983978;10757789;10340541;10092085;9649504;9436904;8208298;7651409;1577277;9671816;9472028;19913121;20628086;10809668;21145461;19710015;20516191;17361132;20427542;18029348;20685659;19857271;16159877;22365833;23000965;23132731;21832049;22939629;23084401;15009664;21182205;22863883;22990118;20360068;21139048;21890473;21906983;17332742;22446626;19322201;21044950;21628590;22516966;22767602;22505724 6431 Q13247;Q59GY3 AB208976;AB451251;AB451375;ABBA01052615;ABBA01052616;AK291203;AK300411;AL031681;AL110214;AMYH01011925;AV704620;BC006832;BM788391;BM830876;CH471077;DC306805;NG_029906;NM_006275;NR_034009;U30828;U30883 AAA93071;AAA93073;AAH06832;BAD92213;BAF83892;BAG70065;BAG70189;BAH13279;EAW75964;EAW75965;EAW75966;EAW75967;NP_006266;Q13247 2108461;2148271;2168692;2174174;2176429 NIB331;RH18029;RH47503;SFRS6_8615;SGC32867 B52;FLJ08061;MGC5045;SFRS6;SRP55 OTTHUMP00000031020;SR splicing factor 6;arginine/serine-rich splicing factor 6;pre-mRNA splicing factor SRP55;pre-mRNA-splicing factor SRP55;serine/arginine-rich splicing factor 6;splicing factor, arginine/serine-rich 6;splicing factor, arginine/serine-rich, 55 kDa APPROVED protein-coding ENSG00000124193 10788 09054 601944 REVIEWED 1316615 SRSF7 serine/arginine-rich splicing factor 7 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] 2 2 p22.1 38824245 38832005 - 38970741 38978636 - 1580863;6480464;6907045 15169763;8013463;12226669;19165527;17513303;17137791;17081983;15907217;15489334;15302935;15210956;15184380;15146077;15123677;14702039;14684736;14559993;12501247;12477932;12221105;11096110;9685386;8871564;8125298;7629084;17353931;20857263;19857271;16055720;17036044;18624398;19854136;20227104;20516191;16159877;15009664;21215488;22094256;23000965;21182205;22939629;22990118;21755018;18029348;17332742;19531213;21907836;16051665;19596686;21139048;21890473;21906983;22178446;21628590;21145461;21319273;22677170;18160415;23084401;15998806;22053931;22505724 6432 C9JAB2;F8WEA1;H7BZZ6;H7C1N1;Q16629 AB445102;ABBA01075016;AC074366;AF055270;AK091425;AK225141;AK293667;AK297161;AMYH01010268;AY166860;AY513287;BC000997;BC017369;BC017908;BC022328;BT006745;CH471053;DC358626;L22253;L41887;NM_001031684;NM_001195446 AAA35495;AAA88098;AAF00003;AAH00997;AAH17369;AAH17908;AAH22328;AAN87842;AAP35391;AAT08040;AAX93102;BAC03661;BAG57113;BAG59658;BAI99737;EAX00363;EAX00364;EAX00365;EAX00366;NP_001026854;NP_001182375;Q16629 Hs.309090 1797178;2144825;2149956;2152631;2220010 A004M37;A004S39;RH12220;SFRS7;SFRS7__5391 9G8;AAG3;SFRS7 OTTHUMP00000128261;OTTHUMP00000203931;OTTHUMP00000203974;SR splicing factor 7;aging-associated protein 3;serine/arginine-rich splicing factor 7;splicing factor 9G8;splicing factor, arginine/serine-rich 7;splicing factor, arginine/serine-rich 7, 35kDa APPROVED protein-coding ENSG00000115875 10789 08991 600572 REVIEWED 7205017 SS18L2P1 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 1 10 p11.21 35164137 35165155 + 646213 ABBA01033351;AL450337;AMYH01002232;NG_005608 1712314 G54066 pseudo 44965 INFERRED 7205295 SS18L2P2 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 2 18 q21.2 48947028 48947611 - 724101 ABBA01018690;AC109315;AMYH01009000;NG_005609 pseudo 44966 INFERRED 1344848 SSAV1 simian sarcoma-associated virus 1/gibbon ape leukemia virus-related endogenous retroviral element 1 10072578;9226372 6739 Y10937 11314 182090 1346358 SSAV1L simian sarcoma-associated virus 1-like/gibbon ape leukemia virus-related endogenous retroviral element 1-like 1602831 6740 11315 1316466 SRXN1 sulfiredoxin 1 20 20 p13 575259 581890 - 627259 633890 - 6480464 15448164;19057013;18593714;18579529;18172504;17176052;16818657;16565085;16381901;15952770;15590625;15489336;15489334;12477932;11780052;11230166;11181995;11076863;20718723;19027064;19561357;19812042;21487000;22934964;21943684;22086924;22939629;21800051;22879602;22964583;21742584 140809 Q9BYN0 ABBA01053753;AF075053;AK098418;AK127435;AK312054;AL121758;AL833944;AMYH01011658;AY427953;BC017001;BC032604;BC047707;BU170568;CH471133;NM_080725 AAH17001;AAH32604;AAH47707;AAR87853;BAC05302;BAG34990;CAD38799;CAL38018;CAL38719;NP_542763;Q9BYN0 Hs.516830 1677885;2116288;2172837;5092742 A005W30;G32301;RH80952;Z94622 C20orf139;FLJ43353;Npn3;SRX;SRX1;YKL086W;dJ850E9.2 OTTHUMP00000029936;chromosome 20 open reading frame 139;sulfiredoxin 1 homolog;sulfiredoxin-1 APPROVED protein-coding ENSG00000271303 16132 12747 VALIDATED 1319864 SRSF9 serine/arginine-rich splicing factor 9 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010] 12 12 q24.31 119383854 119391941 - 120899471 120907558 - 1580863;6480464;6907045 7556075;12226669;18534987;17548433;17540466;17081983;16964243;16541075;15695522;15489334;15302935;15009090;12738786;12604611;12477932;12024014;11875052;11790298;11694584;11118435;10823932;10196175;10022843;9685386;9671816;21145461;17643375;19557313;20376328;20516191;19857271;15009664;19523114;22990118;23084401;21832049;22939629;21697349;22205602;17332742;22178446;14559993;21139048;21890473;21906983;22178073;19322201;18029348;19738201;21963094;21988832;22365833;22623428;23000965;23151878;22053931;22174317;22505724 8683 H0YIB4;Q13242 AA845918;ABBA01020121;ABBA01020122;AI005398;AK290644;AK294254;AL021546;AMYH01004801;BC093971;BC093973;BU786332;CH471054;NM_003769;U30825;U87279 AAA93069;AAD00626;AAH93971;AAH93973;BAF83333;BAG57550;EAW98194;NP_003760;Q13242 Hs.706889;Hs.744094 1685602;1687463;1847358;2108463;2127651;2176117;2176119 A002B13;Cda16c02;G19881;RH44493;RH80576;SFRS9_8845;STS-W73277 SFRS9;SRp30c OTTHUMP00000045455;SR splicing factor 9;pre-mRNA-splicing factor SRp30C;serine/arginine-rich splicing factor 9;splicing factor, arginine/serine-rich 9 APPROVED protein-coding ENSG00000111786 10791 09053 601943 REVIEWED 737205 SRY sex determining region Y This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008] Y Y p11.3 2714896 2715792 - 2654896 2655792 - 1599179;1598780;1580863;6480464;7240710 2247151;8257986 15527767;1695712;1425584;8265659;19376480;19199262;19030103;19007850;18990383;18851760;18598779;18454134;18453550;18412126;18391513;18304538;18271004;18184266;18056774;17762975;17063144;16996051;16904257;16762365;16756388;16510537;16504207;16414182;16411204;15746192;15579790;15579656;15489334;15469996;15300641;15297880;15266301;15170344;15155818;14660691;12970737;12919143;12871148;12815422;12764225;12575752;12483463;12477932;12215841;12107262;11990798;11912443;11869379;11818535;11641389;11585838;11563911;11278460;11062480;10852465;10843173;10732804;10721678;10670762;10235389;9678356;9525897;9521592;9450909;9443877;9346931;9150734;9143916;9054412;8447323;8434602;8353496;8244390;8159753;8122913;8105086;8054981;8019555;7985018;7876301;7776083;7774012;7718558;7717397;7633446;7557997;2909893;2247149;1956279;1639410;1619028;1570829;1483689;1415266;1339396;21114473;22523547;20528776;19349578;20689145;19661285;20347080;16166090;18029348;19188812;19372376;19531589;19650415;19850934;19852431;19902333;21051653;19914267;20699606;21412441;16582099;21242195;21868002;21696822;21849498;22441105;20301589;20301714;22288726;23235156;10459352;10602113;12111377;12793612;15687343;15863672;16813837;1734522;19027189;20072128;3464001;7017147;7987333;8012385;8111368;8355783;9024280;9341880;9652903;22832904 6736 A7WPU8;F5H3H1;F5H6J8;Q05066 ABBA01069746;AC006040;AJ421270;AM884747;AM884750;AY320232;AY330304;AY330305;AY573238;AY601852;AY601853;AY601854;AY601855;AY601856;AY601857;AY601858;AY601859;AY601860;AY608625;AY608626;AY998484;AY998485;AY998486;AY998487;AY998488;AY998489;AY998490;AY998491;BC074923;BC074924;DQ086140;DQ086141;FN568067;FN568068;FN568069;FN568070;FN568071;FN568073;FN568074;FN568075;FN568076;FN568077;FN568078;FN568079;FN568080;FN568081;FN568082;FN568083;FN568084;FN568085;FN568086;FN568087;FN568088;JQ811904;JQ811905;JQ811906;JQ811907;JQ811908;JQ811909;JQ811910;JQ811911;JQ811913;JQ811915;JQ811916;JQ811917;JQ811919;JQ811922;JQ811923;JQ811924;JQ811925;JQ811926;JQ811927;JQ811928;JQ811929;JQ811930;JQ811933;JQ811934;L08063;L10101;L10102;NG_011751;NM_003140;S53156;S56543;X53772;X96421 AAA16878;AAA60590;AAA60591;AAB25008;AAB25716;AAH74923;AAH74924;AAP88266;AAP88269;AAP88270;AAS79428;AAT37461;AAT37462;AAT39011;AAT39012;AAT39013;AAT39014;AAT39015;AAT39016;AAT39017;AAT39018;AAT39019;AAX93511;AAX93512;AAX93513;AAY15119;AAY15120;AAY15121;AAY15122;AAY15123;AAY88211;AAY88212;ABZ92392;AFG33929;AFG33930;AFG33931;AFG33932;AFG33933;AFG33934;AFG33935;AFG33936;AFG33937;AFG33938;AFG33939;AFG33940;AFG33942;AFG33944;AFG33945;AFG33946;AFG33947;AFG33948;AFG33949;AFG33950;AFG33951;AFG33952;AFG33954;AFG33955;CAA37790;CAA65281;CAD13147;CAP05198;CAP05201;CBH40188;CBH40189;CBH40190;CBH40191;CBH40192;CBH40194;CBH40195;CBH40196;CBH40197;CBH40198;CBH40199;CBH40200;CBH40201;CBH40202;CBH40203;CBH40204;CBH40205;CBH40206;CBH40207;CBH40208;CBH40209;NP_003131;Q05066 Hs.1992 1684814;2143617;2188087;2220308;5022883;5115624;5115626;5492707;5493489 G66049;GDB:309125;RH38681;SRY;SRY-1-4;SRY-1-5;SRY-1-6;UniSTS:482099;UniSTS:486835 SRXX1;SRXY1;TDF;TDY OTTHUMP00000034324;essential protein for sex determination in human males;sex determining region on y;sex determining region protein;sex-determining region Y protein;sex-determining region on Y;testis-determining factor;testis-determining factor on Y APPROVED protein-coding 11311 08364 400044;400045;480000 REVIEWED 1345361 SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L1 gene is homologous to SS18.[supplied by OMIM, Jul 2002] 20 20 20 q13.3 57453993 57492739 + 60152217 60190961 + 60718822 60757566 + 1580863;6480464 21145461;14716005;16484776;16189514;15866867;15489334;12696068;12477932;11780052;11435705;9734811;19615732;19724895;19851296;20198315;19081374;20211142;21555454;22371557 26039 H0YDW4;Q6XYD9;Q9BR54 AB014593;ABBA01040104;ABBA01040105;AK125656;AK291485;AK299881;AK308765;AL078633;AMYH01012045;AY203931;BC034494;BC068993;BX640848;CH471077;NM_198935 AAH34494;AAH68993;AAP34454;ABM81834;ABW03300;BAA31668;BAF84174;BAG54230;BAG61729;CAE45918;EAW75389;EAW75390;EAW75391;EAW75392;EAW75393;EAW75394;EAW75395;EAW75396;NP_945173;O75177 Hs.154429 1661110;1682611;2158301;2169834;2169836;5015961;5022322 A006G17;D11S2560;D15S1477;D20S1024;G20785;RH28300;RH44827 CREST;KIAA0693;LP2261;MGC26711;MGC78386 OTTHUMP00000031468;SS18-like protein 1;SYT homolog 1;calcium-responsive transactivator APPROVED protein-coding ENSG00000184402 15592 09398 606472 VALIDATED 1323627 SS18 synovial sarcoma translocation, chromosome 18 18 18 q11.2 21850215 21924609 - 23596217 23670611 - 1599184;1580863;6480464 7951320 10072425;19385976;19337376;18997619;18992642;18714179;18234968;17721327;17667940;17101797;17018603;16484776;16462762;16247461;16227627;16152617;15919756;15489334;14603256;12878157;12477932;12037676;11734557;11591653;11423977;11368913;11308259;11030627;9285794;8152806;7495284;21145461;21996728;20660338;20936779;19649286;19936258;20198325;11274403;22594313;22976541;21234732;20305087;20360068;16223726;22442726;19322201;19081178;23251661;22439931;23540691 6760 B4DLD3;B4DR34;B4E2J6;F5GWN1;J3KRP6;J3KT22;J3KT74;J3QLJ7;J3QQM2;J3QQW2;J3QQW6;J3QQX5;J3QS72;J3QSB3;J3QSG1;Q15532;Q4VAX0 ABBA01022584;AC091021;AF161377;AF244972;AF343880;AK289510;AK296949;AK299082;AK301504;AK304305;AK307923;AK316302;AK316338;AMYH01008900;AU279615;AW081610;BC096221;BC096222;BC096223;BC096224;CH471088;CR542088;CR542103;EF445031;NM_001007559;NM_005637;X79201 AAF28937;AAH96221;AAH96222;AAH96223;AAH96224;AAK21314;AAM00188;ACA06073;ACE87773;ACT64439;BAF82199;BAG59495;BAG61146;BAG63015;BAG65158;BAH14673;BAH14709;CAA55792;CAG46885;CAG46900;EAX01209;EAX01210;EAX01211;EAX01212;EAX01213;NP_001007560;NP_005628;Q15532 Hs.129261 1646611;2125175;2174340;5015861;5093434;5118444;7185938 A009O41;D10S16;D11S3316;G32715;SGC35446;WI-13369 MGC116875;SSXT;SYT;SYT-SSX1;SYT-SSX2 protein SSXT;synovial sarcoma translocated to X chromosome protein;synovial sarcoma, translocated to X chromosome protein-coding ENSG00000141380 11340 02559 600192 VALIDATED 1347853 SS18L2 synovial sarcoma translocation gene on chromosome 18-like 2 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002] 3 3 3 p21 42572703 42576900 + 42607302 42611494 + 42632298 42636490 + 6480464 15489334;12477932;11435705;21906983;22505724 51188 Q9UHA2 ABBA01024768;AC092047;AF201950;AI027415;AK312225;AMYH01013114;BC017804;BC020444;CH471055;DR158587;NM_016305 AAF17242;AAH17804;ABM82891;ABW03464;BAG35158;EAW64657;EAW64658;NP_057389;Q9UHA2 Hs.534454 1712314;1778959;1855442 D3S4204;G54066;RH18290 KIAA-iso OTTHUMP00000162605;SS18-like protein 2;SYT homolog 2 APPROVED protein-coding ENSG00000008324 15593 09399 606473 VALIDATED 1349474 SSFA1 sperm specific antigen 1 9114055 6743 11318 1348902 SSB Sjogren syndrome antigen B (autoantigen La) The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. [provided by RefSeq, Nov 2011] 2 2 q31.1 170363635 170376821 + 170655322 170668574 + 1580863;6480464;6907045 17346312;12033793;7821789;9154801;17353931;10983981;3192525;19287396;19264640;19074175;18550659;18547518;18282467;17985193;17945310;17875783;17719568;17552056;17308035;17081983;16906225;16849479;16682524;16467037;16387655;16344466;16320341;16107699;15928345;15823607;15685555;15572691;15489334;15485924;15371415;15302879;15213463;15084396;15004549;14636586;14617813;12584332;12540850;12477932;12458796;12457960;12384597;12121976;12102760;12096904;12049746;11580243;10715123;9415639;9173875;9054510;7964483;7933082;3856888;2470590;2468131;2464497;2452201;1692037;15574333;12963047;10964780;18029348;19567621;20497049;20856207;17064465;21060685;21294637;16522924;22863883;22990118;23129761;23184937;17620012;20508642;21343359;21832049;16196087;12107413;20360068;22055194;22586326;19471022;21907836;22009680;22203678;21785463;12938929;21139048;21890473;21906983;21903422;22016766;18292223;18850631;19039329;19738201;19805454;21282530;21642987;21988832;22113938;22810585;23000965;23151878;23552417;23667531;19322201;22779921;21145461;21319273;22207702;10785401;17287399;18187620;22174317;22190034;22505724;22944692;22634302 6741 E7ERC4;E9PFL9;E9PGX9;P05455 AB451228;AB451351;ABBA01014899;AC009967;AMYH01011252;BC001289;BC020818;BT009862;CD676196;CH471058;D28394;DQ185046;J04205;M20328;M35261;M35262;M35263;NG_030640;NM_003142;X13697;X14684;X69804 AAA36577;AAA36652;AAA36653;AAA36654;AAA51885;AAH01289;AAH20818;AAP88864;AAY14868;ABD14426;ABM85385;BAA05760;BAG70042;BAG70165;CAA31985;CAA32815;EAX11256;EAX11257;EAX11258;EAX11259;NP_003133;P05455 Hs.632535 1679746;2117182;2174216;5125195 D2S2569;D2S2771;RH12569;RH70881 LARP3;La La ribonucleoprotein domain family, member 3;OTTHUMP00000163067;OTTHUMP00000204777;OTTHUMP00000204778;SS-B;SS-B/La protein;autoantigen La;la autoantigen;lupus La antigen;lupus La protein;sjoegren syndrome type B antigen APPROVED protein-coding ENSG00000138385 11316 00168 109090 REVIEWED 736464 SSBP1 single-stranded DNA binding protein 1, mitochondrial SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 7 7 q34 141084645 141096726 + 141438121 141450288 + 1580863;6480464;6907045 12479417;12464025;12975372;18063578;19066201;18305033;16428295;15489334;12853948;12690205;12477932;21145461;21319273;22153281;22242598;22354994;12381786;11964388;11556757;10827171;9452467;9033597;8482537;7789991;15710247;16407974;18029348;19605351;19683501;19759019;19786724;20434493;20877624;20843780;21242961;22939629;19738201;21150319;21360678;23000965;23246001;23398456;23438482;23568457;23290262;19167051;20000738;20186120;15161933;18457437;20360068;21953457;15342556;20639865;20972266;21139048;21890473;21906983;20028516;20100872;22190034;22505724;23042605 6742 A4D1U3;C9J8J0;C9K0U8;E7EUY5;Q04837 AACC02000020;ABBA01034109;ABBA01034110;AC004918;AC004979;AF277319;AK294393;AK313033;AMYH01017998;BC000895;BC008402;BC093054;BF131408;BG030060;BP308841;BQ959702;BU532904;CH236950;CH471070;DB464012;HQ206146;HQ206147;HQ206148;HQ206149;HQ206150;HQ206151;HQ206152;HQ206153;HQ206154;HQ206155;HQ206156;HQ206157;HQ206158;HQ206159;HQ206160;HQ206161;HQ206162;HQ206163;HQ206164;HQ206165;HQ206166;HQ206167;HQ206168;HQ206169;HQ206170;HQ206171;HQ206172;HQ206173;HQ206174;HQ206175;HQ206176;HQ206177;HQ206178;HQ206179;HQ206180;HQ206181;HQ206182;HQ206183;HQ206184;HQ206185;M94556;NM_001256510;NM_001256511;NM_001256512;NM_001256513;NM_003143;NR_046269 AAA36332;AAH00895;AAH08402;AAH93054;AAK69112;AAS02037;ABM84297;ABM87692;ADP92054;ADP92055;ADP92056;ADP92057;ADP92058;ADP92059;ADP92060;ADP92061;ADP92062;ADP92063;ADP92064;ADP92065;ADP92066;ADP92067;ADP92068;ADP92069;ADP92070;ADP92071;ADP92072;ADP92073;ADP92074;ADP92075;ADP92076;ADP92077;ADP92078;ADP92079;ADP92080;ADP92081;ADP92082;ADP92083;ADP92084;ADP92085;ADP92086;ADP92087;ADP92088;ADP92089;ADP92090;ADP92091;ADP92092;ADP92093;BAG35866;BAH11754;EAL24018;EAW83978;EAW83979;EAW83980;EAW83981;NP_001243439;NP_001243440;NP_001243441;NP_001243442;NP_003134;Q04837 Hs.490394 1664214;1664216;1670580;1856013;5015861;7185938 D10S16;D7S2022;RH47311;WI-17072;WI-22640 Mt-SSB;SOSS-B1;SSBP;mtSSB OTTHUMP00000212286;OTTHUMP00000212287;OTTHUMP00000212288;OTTHUMP00000212289;OTTHUMP00000212290;OTTHUMP00000212291;OTTHUMP00000212293;PWP1-interacting protein 17;single-stranded DNA-binding protein, mitochondrial APPROVED protein-coding ENSG00000106028 11317 02703 600439 VALIDATED 1604711 SSC5D scavenger receptor cysteine rich domain containing (5 domains) 19 19 19 q13.42 53039800 53070315 + 60691682 60722278 + 55999870 56030466 + 6480464 14702039;12477932;19535143;16344560 284297 A1L4H1;K7EP70;K7EPL3;M0QZ17 ABBA01020869;AC008735;AF086519;AK092577;AMYH01010002;BC130538;BC130540;DA008417;EU699476;EU699477;NG_027671;NM_001144950;NM_001195267 A1L4H1;AAI30539;AAI30541;ACJ02751;ACJ02752;BAC03917;NP_001138422;NP_001182196 Hs.554182 1694424;2134511;5016781 G42907;RH77907;SHGC-67307 scavenger receptor cysteine-rich glycoprotein;soluble scavenger protein with 5 SRCR domains;soluble scavenger receptor cysteine-rich domain-containing protein SSC5D;soluble scavenger with 5 domains APPROVED protein-coding ENSG00000179954 26641 11444 VALIDATED 1350792 SSBP4 single stranded DNA binding protein 4 19 19 19 p13.1 18432041 18447194 + 18391136 18406459 + 18530146 18545372 + 1580863;6480464 16189514;15489334;15345747;12477932;12079286;20603019;19913121;20628086;16341674;17207965;20211142 170463 M0R338;Q9BWG4;Q9BWW5 ABBA01051262;ABBA01051263;AC008397;AK098429;AMYH01009592;AMYH01009593;AY026276;AY026292;BC000274;BF207000;BM851755;BQ068310;BU838485;BX400247;CA440011;CH471106;CX873722;NM_001009998;NM_032627 AAH00274;AAK20020;ADQ32711;EAW84697;EAW84698;EAW84699;EAW84700;EAW84701;EAW84702;NP_001009998;NP_116016;Q9BWG4 Hs.515259 2153237;2155768 G30241;STS-H90390 MGC3181 single-stranded DNA-binding protein 4 protein-coding ENSG00000130511 15676 09579 607391 VALIDATED 731988 SSBP3 single stranded DNA binding protein 3 1 1 1 p32.3 52979826 53159767 - 54464783 54644680 - 54692195 54872092 - 6480464 18080319;16325762;15489334;14702039;12477932;12381786;12079286;10524251;7566098;16407974;20379614;17207965;20211142;23275444;21832049;20603019;19497860;21906983 23648 E9PK49;Q5T863;Q9BWW4;Q9NW25 ABBA01074725;ABBA01074726;AF086085;AF500116;AI565975;AK001217;AK093975;AK289474;AL035415;AL161644;AL354778;AL519196;AMYH01000632;AMYH01000633;AY026310;BC003605;BC004335;BC066365;BC127866;BQ051652;CH471059;NM_001009955;NM_018070;NM_145716 AAH03605;AAH04335;AAH66365;AAI27867;AAK21984;AAK21985;AAM22101;ADQ32614;BAA91561;BAF82163;EAX06688;EAX06689;EAX06690;EAX06691;EAX06692;EAX06693;NP_001009955;NP_060540;NP_663768;Q9BWW4 Hs.658676 1649555;1650503;1651980;1654930;1662013;1681907;1692248;1703216;1772255;1776102;1779794;1853157;2106647;2117204;2117206;2121928;2157704;2159596 A005Q36;A008B22;AL009798;AL033786;D1S3134;G20421;GDB:1318452;RH69813;RH70403;RH79748;SGC32284;SHGC-153764;SHGC-58180;SHGC-74834;SHGC-74857;SSBP3__5320;STS-T49250;STS-Z40052 CSDP;FLJ10355;SSDP;SSDP1 OTTHUMP00000009976;OTTHUMP00000009977;OTTHUMP00000009979;OTTHUMP00000232142;OTTHUMP00000232143;single-stranded DNA-binding protein 3 protein-coding ENSG00000157216 15674 09578 607390 VALIDATED 1344325 SSBP2 single-stranded DNA binding protein 2 SSBP2 is a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010] 5 5 q14.1 80751428 81082828 - 80713179 81047072 - 1580863;6480464 12079286;11256614;18618714;18559593;17311003;16189514;15782145;15489334;14702039;12477932;11230166;11042152;10931946;16407974;20658532;17437998;19658100;19683501;20379614;21079607;20603019;16344560;19287380;19497860;22472174 23635 D6RAC5;H0Y9M5;H0Y9V4;Q8N2Q2 AA013030;ABBA01062055;ABBA01062056;ABBA01062057;ABBA01062058;ABBA01062059;ABBA01062060;AC010623;AC016562;AC026419;AC093250;AF077048;AF161465;AK074537;AK293544;AK294864;AK297494;AK299858;AK312337;AL080076;AMYH01015445;AMYH01015446;AMYH01015447;AY026275;BC017020;BI517313;BX397789;BX413405;CH471084;CR936787;DA202987;NM_001256732;NM_001256733;NM_001256734;NM_001256735;NM_001256736;NM_012446 AAD27781;AAF29080;AAH17020;AAK15803;ABM82546;ABM85738;ABW03393;ACE86564;ACE87246;BAC11046;BAG35258;BAH11528;BAH11905;BAH12593;BAH13151;CAB45699;EAW95877;EAW95878;EAW95879;EAW95880;NP_001243661;NP_001243662;NP_001243663;NP_001243664;NP_001243665;NP_036578;P81877 Hs.102735 1657265;1684738;1700442;1718005;1847338;2124851;2135608;2144057;2144363;5093772 A009W20;D5S1464;G32914;RH103842;RH122619;RH36416;RH80893;SHGC-34817;SHGC-36036;STS-H60055 DKFZp686F03273;HSPC116;SOSS-B2 OTTHUMP00000147579;OTTHUMP00000222367;OTTHUMP00000222368;OTTHUMP00000222369;OTTHUMP00000222370;OTTHUMP00000222371;OTTHUMP00000222372;sequence-specific single-stranded-DNA-binding protein 2;single-stranded DNA-binding protein 2 APPROVED protein-coding 15831 09577 607389 VALIDATED 1321861 SSFA2 sperm specific antigen 2 2 2 2 q31.3 176352205 176391198 + 182464927 182503706 + 182756472 182795465 + 1580863;6480464 16169070;1555770;17934691;17081983;16344560;15815621;15489334;15302935;14702039;14673706;12477932;11572484;9740325;20936779;22990118;21457704;21501587;21873152;21078624;21890473;21906983 6744 E7END2;E7EUL7;E9PHV5;F2Z295;H7BZ26;Q96E36 AB067514;AB116937;ABBA01062290;ABBA01062291;AC009962;AK091197;AK097375;AK098455;AK127890;AK291745;AK298186;AK298949;AK304238;AL833431;AMYH01011315;BC012947;BC028706;BC037334;BC052581;BC064499;BX647257;BX647967;BX648182;BX648888;CH471058;CR749488;DA930567;DB460982;M61199;NM_001130445;NM_006751 AAB00773;AAH12947;AAH28706;AAH52581;AAH64499;AAY14913;BAB67820;BAC03607;BAC05027;BAC05308;BAC81767;BAF84434;BAG54593;BAG60457;BAG61048;BAG65107;CAH18314;EAX10980;EAX10981;NP_001123917;NP_006742;P28290 Hs.196983 1650569;1770796;1856823;1856825;5037552;5491836 A005X48;D8S2279;G20586;RH17714;RH69390;SSFA2 CS-1;CS1;DKFZp313O1039;DKFZp779G0129;FLJ45996;KIAA1927;KRAP;SPAG13 KRAS-induced actin-interacting protein;OTTHUMP00000163405;OTTHUMP00000163406;OTTHUMP00000205486;cleavage signal-1 protein;ki-ras-induced actin-interacting protein;sperm associated antigen 13;sperm-specific antigen 2 protein-coding ENSG00000138434 11319 00353 118990 VALIDATED 1318592 SSH3 slingshot protein phosphatase 3 The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008] 11 11 11 q13.2 64403558 64412717 + 66827577 66836647 + 67070919 67080078 + 737633;1580863;6480464 12477932 18442045;17848544;16964243;16344560;15660133;15489334;14702039;14531860;11832213;8889548;21832049;21906983 54961 C9JUG3;E9PIT5;E9PJJ6;E9PMS1;Q8TE77 AB072360;AB099291;ABBA01024041;AF085851;AK000522;AK001790;AK074432;AK094226;AK124234;AMYH01003743;AP001885;BC004176;BC004210;BC007709;BU689839;CH471076;DB002847;NM_017857 AAH07709;BAA91228;BAA91913;BAB84119;BAB85080;BAC04314;BAC97814;EAW74587;EAW74588;EAW74589;EAW74590;EAW74591;EAW74592;EAW74593;EAW74594;EAW74595;EAW74596;NP_060327;Q8TE77 Hs.29173 1663484;2109887;2155198 SSH3_9859;STS-W92216;WI-17496 FLJ10928;FLJ20515;FLJ42240;SSH3L OTTHUMP00000235173;OTTHUMP00000235175;OTTHUMP00000235177;SSH-3L;SSH-like protein 3;hSSH-3L;protein phosphatase Slingshot homolog 3;slingshot 3;slingshot homolog 3 APPROVED protein-coding ENSG00000172830 30581 09488 606780 VALIDATED 1319710 SSH2 slingshot protein phosphatase 2 The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008] 17 17 17 q11.2 24813835 25116991 - 24977091 25281144 - 27952965 28257018 - 6480464 11832213;17848544;17081983;15489334;15345747;14702039;14531860;14527359;12477932;11214970;15660133;20477815;19322201 85464 F5H527;G5E957;J3KSP5;J3KSQ9;K7EKN7;K7EP00;K7EQZ0;Q76I76 AB051512;AB072358;AB072359;AB099290;ABBA01015006;ABBA01015007;ABBA01015008;ABBA01015009;ABBA01015010;ABBA01015011;ABBA01015012;AC023389;AC087510;AC104564;AC104982;AF484838;AK091432;AK094204;AK094429;AK296413;AK308887;AMYH01008293;AMYH01008294;AMYH01008295;AMYH01008296;AMYH01008297;AMYH01008298;BC008941;BC011636;BC068223;CH471159;NM_033389 AAH08941;AAH11636;AAH68223;AAI66670;AAL92027;BAB21816;BAB84117;BAB84118;BAC97813;BAG52360;BAG59076;EAW51209;EAW51210;EAW51211;EAW51212;EAW51213;NP_203747;Q76I76 Hs.654754 1334727;1335400;1668154;1682327;1700566;1750065;1850851;2083812;2135757;2144664;2157936;5015619;5015861;5015961;5019783;5022578;5022651;5024039;5037552;5109281;7185938 A009U17;Cda0kh01;D10S16;D11S2921;D11S3114;D15S1477;D16S3113;D16S325;D17S975;D1S1423;D1S1425;D8S2279;G32840;REN113153;RH103904;RH16560;RH46489;SHGC-107232;SHGC-33453;SHGC-56835 KIAA1725;MGC78588;SSH-2 OTTHUMP00000163634;OTTHUMP00000163635;SSH-2L;SSH-like protein 2;hSSH-2L;protein phosphatase Slingshot homolog 2;slingshot 2;slingshot homolog 2 APPROVED protein-coding ENSG00000141298 30580 09487 606779 REVIEWED 4889241 SSR1P1 signal sequence receptor, alpha pseudogene 1 6 6 151440391 151441157 - 150705470 150706236 - 100420476 ABBA01025662;AL031010;AMYH01016743;NG_025880 pseudo 39273 INFERRED 4889220 SSR1P2 signal sequence receptor, alpha pseudogene 2 13 13 13 q22.2 56608199 56608958 + 74600186 74609111 + 75710315 75711074 + 100131189 ABBA01021639;AL157361;AMYH01005213;NG_021969 pseudo 39274 INFERRED 1345208 SSH1 slingshot protein phosphatase 1 The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 12 12 q24.11 107705099 107775480 - 109176466 109251359 - 1580863;6480464;6484113 11832213;17350576;14645219;19371722;18809681;18096821;17848544;16513117;16230460;15671020;15660133;15489334;15459975;15342556;15302935;15159416;15056216;14702039;14531860;12807904;12684437;12477932;10718198;18029348;19339277;19567672;20477815;19000834;21289500;21525957;22282498;19322201;23247370;21690039 54434 F8VS18;F8W1D9;H0YHR3;Q8WYL5 AB037719;AB072355;AB072356;AB072357;ABBA01053124;ABBA01053125;ABBA01053126;AC087893;AI621348;AK025581;AK095421;AMYH01004732;BC005101;BC013792;BC020243;BC062341;BP363810;CH471054;NG_029846;NM_001161330;NM_001161331;NM_018984 AAH62341;BAA92536;BAB84114;BAB84115;BAB84116;BAC04546;EAW97830;EAW97831;EAW97832;EAW97833;NP_001154802;NP_001154803;NP_061857;Q8WYL5 Hs.199763 1338683;1656801;2129946;2130175;2189825;2189839;5037552 24-1443;27-81;D3S1544;D8S2279;RH45532;RH65932;STS-AA010350 FLJ21928;FLJ38102;KIAA1298;SSH1L OTTHUMP00000240920;OTTHUMP00000240922;OTTHUMP00000240923;SSH-1L;SSH-like protein 1;hSSH-1L;protein phosphatase Slingshot homolog 1;slingshot 1;slingshot homolog 1 APPROVED protein-coding ENSG00000084112 30579 09486 606778 REVIEWED 1604235 SSMEM1 serine-rich single-pass membrane protein 1 7 7 7 q32.2 124643463 124652445 + 129634954 129644733 + 129847704 129856684 + 6480464 15489334;14702039;12690205;12477932;17207965 136263 A4D1L0;Q8WWF3 AACC02000033;ABBA01057592;AC024085;AC087071;AK097635;AMYH01017933;BC017587;CH236950;CH471070;HC006848;NM_145268 AAH17587;ADQ31904;BAC05126;CBH19229;EAL24093;EAW83750;NP_660311;Q8WWF3 Hs.351816 C7orf45;FLJ40316 OTTHUMP00000212523;hypothetical protein LOC136263;uncharacterized protein C7orf45 APPROVED protein-coding ENSG00000165120 29580 14060 VALIDATED 1604386 SSPO SCO-spondin 7 7 7 q36.1 144142344 144200269 + 149104064 149161987 + 149473131 149531054 + 6484113;6480464 18046595;17126404;15790807;15053980;14702039;14692680;12909363;12477932;11008217;9628581;8743952;12421765;19913121;20628086;16713569 23145 A2VEC9;Q8N9X4 AACC02000041;AB111888;ABBA01033639;AC004877;AK093431;AK123170;AK124542;AK127639;AMYH01018125;AMYH01018126;AY927596;AY927597;AY927598;BN000852;NM_198455 A2VEC9;BAC04161;BAC98376;CAJ43920;NP_940857 Hs.632022 1334753;7184416 D7S2426 FLJ36112;FLJ45737;KIAA2036;SCO-spondin SCO protein, thrombospondin domain containing;SCO-spondin;subcommissural organ spondin APPROVED protein-coding 21998 INFERRED 1321056 SSNA1 Sjogren syndrome nuclear autoantigen 1 9 9 9 q34.3 110597085 110598853 + 139202954 139204639 + 140083054 140084822 + 1580863;6480464 9430706;15489334;15269182;14654843;12477932;11591653;11076968;12221128;12852856;16462731;19615732;7790358;21139048;21890473;22008182;22505724 8636 O43805 ABBA01022747;AL929554;AMYH01021893;BC000864;BC004118;BC015827;BT006766;CH471090;CR542238;DB466912;NM_003731;Z96932 AAH00864;AAP35412;CAB09660;CAG47034;EAW88362;EAW88363;NP_003722;O43805 Hs.530314 1680713;1851107;2109889 RH75093;RH78795;SSNA1_7924 N14;NA-14;NA14 OTTHUMP00000022691;Sjoegren syndrome nuclear autoantigen 1;Sjogren's syndrome nuclear autoantigen 1;nuclear autoantigen of 14 kDa protein-coding ENSG00000176101 11321 10251 610882 VALIDATED 1347504 SSPN sarcospan This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] 12 12 p11.2 26239789 26277155 + 26348269 26387710 + 1580863;6480464 18830929;9395445;11256614;18981229;18028944;17311848;16823602;16381901;16344560;15489336;15489334;15375499;15342556;14702039;12477932;11956653;11807778;11470766;11230166;11180757;11076863;10942431;10767327;10651799;8661122;8020969;19913121;20628086;20935629;17234882;22318606 8082 F5H0K2;F5H381;Q14714 ABBA01068031;ABBA01068032;AC022509;AF016028;AK092925;AK304667;AK314353;AL136756;AMYH01004346;BC062299;BP341300;CA419006;CH471094;DA073350;DQ897666;EU433933;NG_012011;NM_001135823;NM_005086;X89105 AAC61660;AAH62299;ABI78937;ACA09756;BAG36988;BAG52629;BAG65442;CAA61479;CAB66690;CAL37553;CAL37592;EAW96532;NP_001129295;NP_005077;Q14714 Hs.183428 1753095;1793794;1793796;1793798;1793800;1793802;1849822;2117605;2134764;2145780 D12S1413;PMC29083P1;PMC29083P2;PMC29083P3;PMC29083P4;PMC29083P5;RH66809;RH78441;SHGC-24297;SHGC-83023 DAGA5;KRAG;NSPN;SPN1;SPN2;nanospan K-ras oncogene-associated protein;Kirsten-ras associated;Kras oncogene-associated;OTTHUMP00000240278;OTTHUMP00000240279;kirsten-ras-associated protein;microspan;nanospan;sarcospan;sarcospan (Kras oncogene-associated gene) APPROVED protein-coding 11322 03359 601599 REVIEWED 1318091 SSR2 signal sequence receptor, beta (translocon-associated protein beta) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008] 1 1 1 q21-q23 129051733 129062855 - 154245463 154257382 - 155978839 155990758 - 1580863;6480464;6907045 7789174;18293417;16710414;15489334;15342556;14702039;12754519;12477932;10471800;8286409;8125298;7916687;3021779;20379614;9631292;21906983;21987572;22505724 6746 E9PJ35;E9PLP2;E9PN13;E9PNP2;E9PQ05;E9PQI4;E9PQJ7;P43308 ABBA01016677;ABBA01016678;AK092473;AK222600;AK300678;AK313821;AL355388;AMYH01001433;AMYH01001434;AY251536;BC000341;BP196192;BX649192;CH471121;CR456973;D37991;NM_003145;X74104 AAH00341;AAP20059;BAA07206;BAD96320;BAG36556;BAG62361;CAA52207;CAE46211;CAG33254;EAW53010;EAW53011;NP_003136;P43308 Hs.74564 1649082;2121494;2137996;2148323;2183973;5016596;5020740;5022450;5023327;5109281 AL009409;D10S275;D1S1425;GDB:631802;GDB:679134;L17809;L18023;RH11777;RH64509;RH70896 DKFZp686F19123;HSD25;TLAP;TRAP-BETA;TRAPB OTTHUMP00000018845;OTTHUMP00000234682;OTTHUMP00000234684;SSR-beta;signal sequence receptor subunit beta;translocon-associated protein beta;translocon-associated protein subunit beta APPROVED protein-coding ENSG00000163479 11324 02923 600867 REVIEWED 1353118 SSR4P1 signal sequence receptor, delta pseudogene 1 21 21 21 q22.3 31597514 31599770 - 45317224 45317355 - 46490870 46493126 - 6480464 15489334;12477932;11181995 728039 Q9NSI1 ABBA01074184;AL133499;AL163301;AMYH01012304;AP001579;BC004343;CH471079;NR_027292 CAB90494;EAX09363 Hs.309203 1724749 RH122581 C21orf122;MGC10960;PRED57;PRED90 APPROVED pseudo 23131 INFERRED 1322158 SSR1 signal sequence receptor, alpha The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. [provided by RefSeq, Jul 2008] 6 6 6 p24.3 8511044 8543304 - 7232803 7258434 - 7281283 7313541 - 1580863;6480464;6907045 15489334;7916687;1557127;8050590;10437777;17081983;16303743;16169070;14702039;14574404;12754519;12477932;10471800;8707840;8125298;1964414;21145461;18029348;9631292;22939629;22990118;21139048;21693764;21900206;21906983;21987572;21907836;19322201;17380188;21150319;21988832;22268729 6745 C9IZQ1;C9J3L8;C9J5W0;C9JBX5;C9JY01;E9PAL7;F5H5Y2;Q9TNQ8 ABBA01022040;AF156965;AJ420492;AK024294;AK025753;AK026687;AK075562;AK222762;AK222809;AK291550;AK312653;AL139095;AMYH01016063;BC007710;BT007387;CA424805;CH471087;CR456961;CR936719;DC384883;NM_003144;Z12830 AAD48778;AAH07710;AAP36051;ABM83677;ABW03544;BAC11701;BAD96482;BAD96529;BAF84239;BAG35536;CAA78290;CAG33242;EAW55202;EAW55203;EAW55204;NP_003135;P43307 Hs.114033 1657624;1664468;1674131;1687345;1699992;1701322;1710536;1710754;1730291;1778353;1849455;2116101;2142740;2153204;2178076;2179758;5015861;5024756;5037552;7184705;7185938;7186054 A006P22;A006X18;D10S16;D6S1472;D6S321E;D8S2279;G31079;RH103606;RH104291;RH17553;RH80030;RH93008;SGC35789;SHGC-32039;SHGC-36562;SHGC-84014;SHGC-86312;STS-N36801;WI-18513 DKFZp781N23103;FLJ14232;FLJ22100;FLJ23034;FLJ78242;FLJ93042;TRAPA OTTHUMP00000015998;OTTHUMP00000213998;OTTHUMP00000213999;OTTHUMP00000214000;OTTHUMP00000214001;OTTHUMP00000214008;SSR alpha subunit;SSR-alpha;TRAP alpha;TRAP-alpha;signal sequence receptor subunit alpha;translocon-associated protein alpha subunit;translocon-associated protein subunit alpha APPROVED protein-coding ENSG00000124783 11323 02924 600868 REVIEWED 1349375 SSR3 signal sequence receptor, gamma (translocon-associated protein gamma) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010] 3 3 3 q25.31 154681265 154696309 - 157741237 157755629 - 156257929 156272973 - 1580863;6480464;6907045 14667819;17353931;7916687;17081983;15489334;12477932;10471800;19615732;9631292;16344560;22939629;18781797;21139048;21906983;22632162 6747 B4E2P2;C9J365;C9JA28;Q9UNL2 ABBA01058840;AC092927;AF087907;AF110647;AK304364;AK312935;AMYH01013600;BC017203;BM997362;BT006669;CH471052;DA135338;NM_007107 AAD48587;AAH17203;AAP35315;AAP97205;ABM83498;ABM86714;BAG35777;BAG65204;EAW78730;EAW78731;NP_009038;Q9UNL2 Hs.518346 1646664;1655344;1698666;1735194;1740251;1740255;1788700;2129239;2136316;2168584;2177526;5014051;5015621;5037552;5109687 D11S3732;D1S1922E;D3S1655;D3S1695;D3S2838E;D3S3314;D8S2278;D8S2279;RH102892;RH135816;SHGC-37401;STS-N50721;STS-W44471;STS-W93529;WI-17436 TRAPG OTTHUMP00000213166;OTTHUMP00000213167;OTTHUMP00000213168;OTTHUMP00000213169;OTTHUMP00000213170;SSR gamma;SSR-gamma;TRAP-complex gamma subunit;TRAP-gamma;signal sequence receptor subunit gamma;translocon-associated protein gamma subunit;translocon-associated protein subunit gamma APPROVED protein-coding ENSG00000114850 11325 16206 606213 REVIEWED 7245830 SSSCA1-AS1 SSSCA1 antisense RNA 1 (head to head) 14702039;16344560;20881960 254100 ABBA01024111;AF085877;AK057616;AMYH01003721;AP001362;DA695100;NR_038923 Hs.595927 1665627;1684104;1770433;5109281 D11S1139;D1S1425;G33122;RH45198 miscrna 27384 VALIDATED 734366 SSRP1 structure specific recognition protein 1 The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008] 11 11 q12 56850035 56859927 - 57093459 57103351 - 1580863;6480464 17672918;1372440;15231747;18029348;12676794;17209051;17081983;16730941;16713563;16498457;15659405;15635413;15592455;15561718;15489334;15302935;15009096;14660563;14559993;12934006;12477932;12393879;12374749;12101123;11824977;11344167;11239457;10912001;10421373;10336466;10199952;9836642;9566881;9489704;7594592;2530581;16169070;15616580;22863883;16622419;21145461;21232560;21454601;19214185;20562859;20603019;15034300;16902406;19625449;19639603;19710137;19836239;19995907;20085707;16226712;16522924;16682447;18036521;18406329;19394292;19454010;17403666;22939629;15047060;23325844;23610384;18274552;21055985;21679440;19596686;21969370;19471022;21907836;18781797;21139048;21549307;21693764;21890473;21906983;22178446;21252943;21113133;15385968;19738201;21963094;22113938;22623428;22940245;23000965;23182705;20599239;22505724 6749 E9PMD4;E9PPZ7;Q08945 AB209132;ABBA01021468;AMYH01003651;AP000781;BC005116;BC091486;CH471076;M86737;NM_003146 AAA58660;AAH05116;AAH91486;ABM84585;ABM86758;BAD92369;EAW73734;EAW73735;NP_003137;Q08945 Hs.523680 1672336;1742547;1769728;1777268;2129029;2177834;2218614 GDB:197864;RH17745;RH47161;SHGC-30227;SSRP1;SSRP1_3468;WI-9146 FACT;FACT80;T160 FACT 80 kDa subunit;FACT complex subunit SSRP1;FACTp80;OTTHUMP00000234768;chromatin-specific transcription elongation factor 80 kDa subunit;cisplatin-DNA SSRP;facilitates chromatin remodeling 80 kDa subunit;facilitates chromatin transcription complex 80 kDa subunit;facilitates chromatin transcription complex subunit SSRP1;hSSRP1;high mobility group box;recombination signal sequence recognition protein 1;structure-specific recognition protein 1 APPROVED protein-coding ENSG00000149136 11327 05061 604328 REVIEWED 736749 SSR4 signal sequence receptor, delta This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011] X X X q28 153293775 153297635 + 152713288 152717148 + 153059630 153063967 + 1302383;1300048;1580863;6480464;6907045 9286695 17353931;7492314;16381901;15489336;15489334;15057039;14702039;14684739;12477932;11076863;10471800;7916687;21145461;21319273;9631292;12107412;15342556;16344560;18781797;20639865;20972266;21139048;21890473;22939629;16196087;17314511;17342744;21906983;21987572;21963094;23000965;23246001;23438482;23455922;23464991;22053931;22190034;22505724 6748 A6NLM8;H7C1C6;P51571 ABBA01045357;AK057117;AK094395;AK290493;AMYH01023301;BC003371;BC015362;BC032351;BE791319;BG165852;BI754091;BP202705;BT007192;CD672615;CH471172;CQ859728;DB238237;NM_001204526;NM_001204527;NM_006280;NR_037927;U52111;X90583;Z68129;Z69043 AAH03371;AAP35856;ABM87812;ABW03671;BAF83182;CAA62211;CAA92215;CAA93157;CAH25914;CAL37918;CAL38393;EAW72807;EAW72808;EAW72809;EAW72810;EAW72811;NP_001191455;NP_001191456;NP_006271;P51571 Hs.409223 1665020;5096020;5106552 DXS7064;RH67907;RH71299 TRAPD OTTHUMP00000025954;OTTHUMP00000025956;OTTHUMP00000025957;OTTHUMP00000025958;SSR-delta;TRAP-delta;signal sequence receptor 4;signal sequence receptor subunit delta;translocon-associated protein delta;translocon-associated protein subunit delta APPROVED protein-coding ENSG00000180879 11326 02101 300090 REVIEWED 1323499 SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62664332 62665628 + 65094519 65095815 + 65337943 65339239 + 1580863;6480464 9486406;17353931;16189514;15489334;12477932;11591653;22261722;21292307;19574837;22863883;22939629;21987572;21139048;21890473;21906983;20881960;22053931;22190034;22505724 10534 E9PK41;E9PN57;G3V1B8;H0YEB6;H0YEK1;O60232 AB001740;ABBA01024111;AMYH01003721;AP001362;BC014791;CH471076;NM_006396 AAH14791;ABM82708;ABM85892;BAA25263;EAW74406;EAW74407;EAW74408;NP_006387;O60232 Hs.25723 1665627;1684104;1770433;2168824 D11S1139;G33122;G33124;RH45198 p27 OTTHUMP00000232769;OTTHUMP00000233069;OTTHUMP00000233071;Sjoegren syndrome/scleroderma autoantigen 1;Sjogren's syndrome/scleroderma autoantigen 1;autoantigen p27;centromeric autoantigen (27kD) APPROVED protein-coding ENSG00000173465 11328 06921 606044 PROVISIONAL 736501 SSTR5 somatostatin receptor 5 Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010] 16 16 p13.3 1068870 1069964 + 1122756 1131454 + 1580863;1358589;2325008;6480464;7240710 12192619;7956902 7908405;19423539;19342453;19070659;18936524;18653781;18066572;17159301;16954443;16690617;16216913;16214911;16012170;15914528;15616553;15247250;15118275;14602773;12898583;12414882;12072395;12021920;11753241;11502816;11157797;10753124;10713101;9892225;9694905;9279525;9205124;9177396;9125122;8449518;8373420;8078491;7607700;6145156;9892014;1346068;21419811;19894022;20529830;20634197;18577758;2834384;20734064;20810604;20207824;20182388;20739383;22770972;16344560;18240029;19318729;19330452;19401364;19748526;20150960;20201926;20233783;20398908;20468064;21190959;20717067;21238583;21667819;21692047;21820437;21383526;21810856;21249361;21503779;21906983;22419713;21952553;22720333;22640914 6755 AAB31829;H3BNQ8;P35346 ABBA01030330;AC009041;AE006466;AK308381;AL031713;AMYH01007017;AY081193;CH471112;D16827;DB202230;DQ448303;DQ448304;DW447547;HB975880;L14865;NG_016744;NM_001053;NM_001172560 AAA20828;AAB31829;AAI41554;AAI46577;AAK61266;AAL88744;ABE27002;ABE27003;BAA04107;CBE74695;EAW85687;NP_001044;NP_001166031;P35346 Hs.449840 1744835;1788384;1788386;1788388;2155752;5492423;5493777 G67508;G67509;G67510;GDB:568875;RH66813;UniSTS:480985;UniSTS:494790 SS-5-R OTTHUMP00000158593;somatostatin receptor subtype 5;somatostatin receptor type 5 2315775 GLUCO145_H APPROVED protein-coding ENSG00000162009 11334 01677 102200;182455 REVIEWED 734231 SST somatostatin The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008] 3 3 q28 188869388 188870895 - 187386694 187388201 - 1641809;2303186;2303174;2303191;6480464 17021051;17990461;18925713;17928643 9886848;8100352;8405411;6145156;8961277;9437026;19423539;19328558;19106227;19086053;18753129;18617261;18567806;18473402;18310290;18196269;17987251;17704349;17327350;17130427;16952549;16804989;16764985;16736556;16606630;16456666;16284732;16214911;16211223;16043736;15655830;15489334;15472172;15358539;15286801;15266779;14559725;12952361;12902325;12684217;12477932;12174892;11920268;11860030;11823046;11814357;11753230;8612489;7908405;6196780;6142531;6126875;4682131;1346068;1337145;9878821;19559700;20501436;20602615;20634197;18240029;19607727;19733630;20043075;17229384;20055772;18577758;20734064;20800603;20810604;20819778;21368047;20629740;22932785;21640760;21232602;21632809;22366760;22509294;22528496;22532184;23312523;15590633;23128854 6750 P61278 ABBA01058368;AC072022;AK312177;AMYH01013747;BC032625;BM353331;CH471052;J00306;NM_001048;R54287 AAA60566;AAH32625;BAG35110;EAW78145;EAW78146;NP_001039;P61278 Hs.12409 1336863;1787954;1787956;1787958;1791738;2133260;2174462;5494213 G67157;G67158;G67159;PMC123023P2;SHGC-77642;SHGC-77648;SST;SST-112F SMST OTTHUMP00000209936;growth hormone release-inhibiting factor;prepro-somatostatin;somatostatin;somatostatin-14;somatostatin-28 1643508 BW262_H APPROVED protein-coding ENSG00000157005 11329 08920 182450 REVIEWED 5683944 SSU72P1 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 1 X q23 113625127 113625708 + 286528 ABBA01053560;AL953862;AMYH01022850;NG_022691 pseudo 43620 INFERRED 5683942 SSU72P2 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 2 11 p15.4 4263286 4263880 - 21139048 390031 A8MSY0 ABBA01032032;AC018793;AMYH01003350;CH471158;NG_008908 A8MSY0;EAX02585 pseudo 43621 INFERRED 5683939 SSU72P4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 4 11 p15.4 4308729 4309323 - 441584 AC018793;AMYH01003354;NG_008912 pseudo 43623 INFERRED 5683937 SSU72P3 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 3 11 p15.4 4351094 4351679 + 16554811 143506 A6NK39 ABBA01017184;AC018793;AMYH01003357;NG_008900 A6NK39 pseudo 43622 INFERRED 5683940 SSU72P5 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 5 11 p15.4 4254508 4255102 + 196120 ABBA01032033;AC018793;AMYH01003350;NG_008904 pseudo 43624 INFERRED 5683938 SSU72P6 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 6 11 p15.4 4299927 4300522 + 643263 AC018793;NG_008911 pseudo 43625 INFERRED 5683943 SSU72P7 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 7 11 p15.4 4359890 4360474 - 390033 AC018793;AMYH01003357;NG_008909 pseudo 43626 INFERRED 737191 SSTR1 somatostatin receptor 1 Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012] 14 14 q13 37746955 37752019 + 38677204 38682268 + 1580863;1641809;2325008;6480464 17021051;7956902 1346068;8405411;9886848;19423539;19106227;19086053;19070659;18936524;18823376;18347174;17848636;17533578;16214911;15489334;15247250;12788890;12477932;12474541;12414882;12376335;12359227;12021920;11753241;11527930;11344221;10734105;10713101;9892225;9279525;9205124;9125122;8622562;8449518;7968260;21419811;20529830;20634197;18577758;20734064;20810604;20819778;20739383;20182388;18240029;19318729;19330452;20453000;20717067;15123239;23319000 6751 P30872;Q86SW9 ABBA01061539;AK290868;AL450109;AMYH01005682;AY322536;BC035618;BX248780;CH471078;HB975862;M81829;NM_001049 AAA58247;AAH35618;AAP84349;ABM84254;ABM87643;BAF83557;CAD66587;CBE74677;EAW65836;NP_001040;P30872 Hs.248160 1690316;1742373;1788360;1788362;1788364;2108529;2127696;2165795 G67496;G67497;G67498;GDB:196507;RH44750;RH93864;SSTR1_8648;STS-M81829 SRIF-2;SS-1-R;SS1-R;SS1R G-protein coupled receptor;OTTHUMP00000244198;SS-1-R;SS1-R;SS1R;somatostatin receptor type 1 APPROVED protein-coding ENSG00000139874 11330 01673 182451 REVIEWED 5683936 SSU72P8 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 8 7 q31.33 124116425 124117009 + 11181995;12690205;9847074 136157 A6NG73 AACC02000001;ABBA01057718;AC005521;AMYH01017908;CH236947;CH471070;NG_012760 A6NG73;EAL24327;EAW83612 pseudo 43627 INFERRED 1343520 SSTR3 somatostatin receptor 3 This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q13.1 35932191 35938299 - 37602245 37608353 - 1580863;2325002;2325008;6480464 11879809;7956902 8961277;8405411;1337145;19423539;19086053;19071123;18936524;18676680;18066572;17683502;17679363;16214911;15489334;15461802;15197339;12477932;12474541;12414882;12376335;12021920;11753241;11472428;11344221;10591208;9295322;9205124;9177396;9125122;8449518;8183236;8097479;1346068;20570798;20602615;20634197;22889411;2834384;18240029;19170196;19330452;19625176;19692168;20237496;20424473;18577758;20629740;20182388;20734064;20810604;20717067;21503779;22419713 6753 P32745;Q86YF2 ABBA01055461;AK291165;AMYH01012753;AY277678;AY322541;BC042068;BC096829;BF513812;BF514979;BF515539;BU584980;CH471095;CR456585;HB975872;M96738;NM_001051;NM_001278687;Z82188 AAA60592;AAH42068;AAH96829;AAP32288;AAP84354;BAF83854;CAG30471;CAK54616;CAK54915;CBE74687;EAW60148;NP_001042;NP_001265616;P32745 Hs.225995;Hs.255208 1788372;1788374;1788376;2106649;5492417 G67502;G67503;G67504;SSTR3__5322;UniSTS:480983 SS-3-R;SS3-R;SS3R;SSR-28 OTTHUMP00000197770;SS-3-R;SS3-R;SS3R;SSR-28;somatostatin receptor type 3 APPROVED protein-coding 11332 01675 182453 REVIEWED 2292186 SSX10 synovial sarcoma, X breakpoint 10 X p11.23 48012271 48023379 - 15772651 100128582 A6NEJ1 AL606490;AL683817;XM_001714824 A6NEJ1;XP_001714876 protein-coding 34047 2304378 SSTR5-AS1 SSTR5 antisense RNA 1 16 16 16 p13.3 1328723 1343451 - 1055300 1056350 - 1114081 1128731 - 14702039;12477932 146336 Q96MJ9 ABBA01030330;AC009041;AK056814;AMYH01007015;AMYH01007016;AMYH01007017;AW291498;BC068093;BC084558;CH471112;NR_027242 BAB71289;EAW85688;EAW85689 Hs.250557 1744835;1788384;1788386;1788388;1856740;2155752 FB22H7;G67508;G67509;G67510;GDB:568875;RH66813 FLJ32252 APPROVED miscrna ENSG00000261713 26502 08125 PREDICTED 1346941 SSTR2 somatostatin receptor 2 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. [provided by RefSeq, Jul 2008] 17 17 q24 68672755 68679689 + 71161160 71168094 + 1580863;1358588;2325002;2325008;6480464 10604740;11879809;7956902 10551867;7914078;1346068;9892014;18029348;19434240;19423539;19389921;19324939;19148511;19106227;19086053;18936524;18852217;18808065;18697876;18695896;18682975;18653781;18617261;18599562;18325993;18292657;18234910;18196892;17848636;17706924;17678886;17603546;17546456;16996150;16954443;16917505;16645635;16606630;16601140;16254490;16214911;16115892;15914528;15754023;15489334;15257106;15231824;15205362;15153427;15118275;14760765;14702039;14695784;14671213;14602773;14576502;14572771;12684217;12675130;12490654;12477932;12474541;12414882;12210479;12030911;12021920;11920268;11839658;11823046;11753241;11527930;11472428;11344221;11264236;11087996;10619399;10373412;9892225;9344495;9305905;9279525;9125122;8449518;8386508;7968260;7673428;21215273;19913121;20628086;20634197;20450431;20182388;20422506;20734064;20810604;20819778;20948194;18240029;19318729;19330452;19575008;19671855;19748526;19759190;19805200;19885591;20228164;20233796;20453000;18577758;20717067;21287294;21667819;20942237;21383526;22472799;21330405;22495673;22213295;19322201;22419713;21832049;22932785;22592599;22640914 6752 P30874 AB065911;ABBA01028872;AC097641;AF184174;AK093950;AK290745;AK313866;AMYH01008616;AY236542;BC000256;BC009522;BC019610;BC095495;BT019926;CH471099;HB975866;HH806424;HH806430;L34689;M81830;NG_029371;NM_001050 AAA58248;AAC98545;AAF42809;AAF42810;AAH00256;AAH09522;AAH19610;AAH95495;AAO92064;AAV38729;ABM82206;BAC06126;BAF83434;BAG36594;CBE74681;CBX87732;CBX87733;EAW89111;EAW89112;NP_001041;P30874 Hs.514451 1673174;1742375;1760651;1761449;1788366;1788368;1788370;1790365;2146464;5015961;5016478;5037552 D15S1477;D8S2279;G67499;G67500;G67501;GDB:196511;GDB:434012;RH69041;RH78366;SHGC-144199;SHGC-145456;SSTR2 SRIF-1;SS-2-R;SS2-R;SS2R;somatostatin receptor type 2 APPROVED protein-coding 11331 01674 182452 REVIEWED 735550 SSTR4 somatostatin receptor 4 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [provided by RefSeq, Jul 2008] 20 20 p11.2 22964057 22965314 + 23016057 23017314 + 1580863;2324994;2324996;2325002;6480464 8132773;18951627;11879809 8449518;9892014;8405411;8100352;19423539;19086053;18936524;18066572;16214911;15489334;12477932;12414882;12210479;12021920;11780052;11753241;11472428;11344221;10768564;10433861;9279525;9205124;9125122;8512564;8483934;8373420;8244401;1346068;20634197;18240029;19330452;19426801;19687471;20233783;20237496;18577758;20734064;20810604;20182388;2834384;20717067;23251661 6754 P31391 ABBA01016174;AL049651;AMYH01011774;AY548169;BC069063;BC117270;BC117272;CH471133;D16826;HB975876;L07833;L14856;NM_001052 AAA36623;AAA60565;AAH69063;AAI17271;AAI17273;AAS55648;BAA04106;CBE74691;EAX10168;EAX10169;EAX10170;NP_001043;P31391 Hs.673846 1648610;1788378;1788380;1788382;2106651;2115881;5492513;5493677 G67505;G67506;G67507;RH69015;SSTR4__5323;STS-L14856;UniSTS:481440;UniSTS:490188 SS-4-R;SS4-R;SS4R G-protein coupled receptor;OTTHUMP00000030416;SS-4-R;SS4-R;SS4R;somatostatin receptor type 4 APPROVED protein-coding ENSG00000132671 11333 01676 182454 VALIDATED 1605688 SSU72 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 1 1 1 p36.33 1068953 1103100 + 1466916 1500125 - 1477053 1510262 - 6480464 18597038;15659578;15125841;14702039;12477932;11483580;11042152;19615732;20861839;20818333;23070812;22939629;21139048;21890473;21906983 29101 Q9NP77 ABBA01016053;ABBA01016054;AF161530;AF277178;AF305818;AJ276409;AK001809;AK023110;AK127149;AK297505;AK310067;AL645728;AMYH01000141;AMYH01000142;BC008070;BC018909;CF594026;CH471183;NM_014188 AAF29145;AAH08070;AAK07538;AAK55521;ABM83913;ABM87235;BAA91921;BAB14410;BAG59918;CAC81713;EAW56182;EAW56183;NP_054907;Q9NP77 Hs.30026;Hs.549751 1673823;1850825;1854621;2117891;2118183;2178842;5015879;5016478;5107479 A001Y42;A009A39;GDB:314949;GDB:434012;RH70327;SHGC-74075;SHGC-74090;STS-Z40614;WI-17614 FLJ13048;HSPC182;PNAS-120 CTD phosphatase SSU72;OTTHUMP00000000597;RNA polymerase II subunit A C-terminal domain phosphatase SSU72 protein-coding ENSG00000160075 25016 13712 VALIDATED 1354257 SSX1 synovial sarcoma, X breakpoint 1 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013] X X p11.23 47999741 48011823 + 48114797 48126879 + 1580863;6480464;7240710 10072425;19212631;19204726;18714179;18267106;16247461;16152617;15772651;15735574;15489334;12696068;12477932;12216073;12037676;12007189;11734557;8825641;8406438;7951320;7655467;7539744;19936258;20198325;20211142;17667940;23540691;19559255;21454665;22393780;22976541;23021509;23623359;23691490;23701986;23716114 6756 Q16384 ABBA01052457;ABBA01052458;AC245047;AL683817;AMYH01022273;BC001003;BC125151;BC128611;BC133693;BC150487;BE777476;BF211314;BI831262;BQ774004;CH471164;NG_012528;NM_001278691;NM_005635;X86174 AAH01003;AAI25152;AAI28612;AAI33694;AAI50488;ABM81899;ABW03372;CAA60110;CAI41141;EAW59344;NP_001265620;NP_005626;Q16384 Hs.434142 CT5.1;MGC150425;MGC5162;SSRC OTTHUMP00000023245;cancer/testis antigen 5.1;cancer/testis antigen family 5, member 1;protein SSX1;sarcoma, synovial, X-chromosome-related 1 APPROVED protein-coding ENSG00000126752 11335 02428 300813;312820 REVIEWED 1343303 SSX2 synovial sarcoma, X breakpoint 2 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] X X p11.22 52742671 52752974 - 52725946 52736249 - 1580863;6480464;7240710 16546222;16381901;16152617;15772651;15735574;15596411;15489336;15489334;12477932;12216073;12037676;12007189;11368913;11256614;11076863;10749136;9285793;8840996;8152806;7951320;7655467;7539744;7495284;21996728;19337376;11274403;22344619;22007079;22393780;22550415;22594313;22797074;22862905;22976541;23109999;23313505;23619976;23623359;22439931 6757 Q16385;Q9NZK4 AC244505;AF190791;AL450023;AL596242;AMYH01022382;AMYH01022383;AMYH01022384;AMYH01022385;AMYH01022386;AMYH01022387;AMYH01022388;AMYH01022389;AMYH01022390;AMYH01022391;AMYH01022392;AMYH01022393;AMYH01022394;AMYH01022395;AMYH01022396;AMYH01022397;BC002818;BC007343;BC016957;BC069313;BC071827;BC103863;BG104299;BI560469;CH471266;CS017256;CS017258;JX014236;NM_001278697;NM_003147;NM_175698;X86175;Z49105;Z49106 AAF44724;AAH02818;AAH07343;AAH16957;AAH69313;AAH71827;AAI03864;ABZ92236;AGC59876;CAA60111;CAD18884;CAI54191;CAI54192;CAL38677;EAW55861;EAW55862;EAW55863;NP_001265626;NP_003138;NP_783629;Q16385 Hs.289105;Hs.661107 5107955;5114531;5117262 GDB:454738;STS-H99655;STS-Z49105 CT5.2;CT5.2a;HD21;HOM-MEL-40;MGC119055;MGC15364;MGC3884;SSX;SSX2B CT5.2;OTTHUMP00000024290;OTTHUMP00000024291;cancer/testis antigen 5.2;cancer/testis antigen family 5, member 2a;protein SSX2;sarcoma, synovial, X-chromosome-related 2;synovial sarcoma, X breakpoint 2, isoform b;synovial sarcoma, X breakpoint 2B;tumor antigen HOM-MEL-40 APPROVED protein-coding ENSG00000241476 11336 02180 300192;300813 REVIEWED 1603044 SSUH2 ssu-2 homolog (C. elegans) 3 3 3 p26.1 8598077 8630496 - 8636320 8668737 - 8661086 8693764 - 6480464 15489334;14702039;12477932;20205943;8125298;16344560 51066 C9JAQ0;C9JZA7;F8WDP2;F8WDV4;F8WED9;G5E9S6;Q9Y2M2 AA622964;AB024705;ABBA01020417;AC034187;AK057972;AK093025;AK093066;AK122938;AK225925;AK300175;AMYH01012962;BC025690;BC052614;CH471055;DB010779;FB505657;FB505659;NM_001256748;NM_001256749;NM_015931;NR_046358 AAH52614;BAA76932;BAG52646;BAH13229;CAV32836;CAV32838;EAW63941;EAW63942;EAW63943;NP_001243677;NP_001243678;NP_057015;Q9Y2M2 Hs.740735 C3orf32;FLJ35706;SSU-2;fls485 OTTHUMP00000151156;OTTHUMP00000207052;hypothetical protein LOC51066;protein SSUH2 homolog;protein ssu-2 homolog;uncharacterized protein C3orf32 APPROVED protein-coding ENSG00000125046 24809 11267 VALIDATED 1626582 SSX2B synovial sarcoma, X breakpoint 2B The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 6757, located about 45 kb upstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013] X X p11.22 52798483 52807211 + 52780308 52790617 + 12007189;7539744;7951320;15772651;15489334;10749136;7655467;7495284;16712791;11256614;12216073;12477932 727837 Q16385 ABBA01048008;AC244505;AF190791;AL445236;AL450023;AMYH01022374;AMYH01022375;AMYH01022376;AMYH01022377;AMYH01022378;AMYH01022379;AMYH01022380;AMYH01022381;AMYH01022382;AMYH01022383;AMYH01022384;AMYH01022385;AMYH01022386;AMYH01022387;AMYH01022388;AMYH01022389;AMYH01022390;BC002818;BC007343;BC016957;BC069313;BC071827;BC103863;BE391023;CB158955;JX014236;NM_001164417;NM_001278701;NM_001278702;X86175;Z49105;Z49106 AAF44724;AAH02818;AAH07343;AAH16957;AAH69313;AAH71827;AAI03864;AGC59876;CAA60111;CAI41623;CAI41624;NP_001157889;NP_001265630;NP_001265631;Q16385 Hs.289105 5107955;5114531 STS-H99655;STS-Z49105 CT5.2;CT5.2b;HOM-MEL-40;SSX;SSX2 CT5.2;HOM-MEL-40;OTTHUMP00000023322;OTTHUMP00000023323;SSX;cancer/testis antigen 5.2;cancer/testis antigen family 5, member 2b;protein SSX2;synovial sarcoma, X breakpoint 2;tumor antigen HOM-MEL-40 protein-coding ENSG00000157950 22263 VALIDATED 1345829 SSX3 synovial sarcoma, X breakpoint 3 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [provided by RefSeq, Jul 2013] X X X p11.23 52402209 52412488 - 48090807 48101086 - 48205863 48216142 - 1580863;6480464 15772651;15489334;12477932;12216073;12007189;9378559;8697803;20211142;10749136;20946665 10214 Q5JQZ4;Q99909 AA609599;ABBA01052467;ABBA01052468;ABBA01052469;AK310348;AK310513;AL606490;AMYH01022274;BC005904;BC103862;CH471164;DB444418;NG_012561;NM_021014;NM_175711;S82471;U90840 AAB37436;AAC05819;AAH05904;AAI03863;EAW59347;EAW59348;EAW59349;NP_066294;NP_783642;Q99909 Hs.558445 CT5.3;MGC119054;MGC14495 Kruppel-associated box containing gene product SSX3;OTTHUMP00000023246;OTTHUMP00000023247;cancer/testis antigen 5.3;protein SSX3;synovial sarcoma, X breakpoint 3, isoform a APPROVED protein-coding ENSG00000165584 11337 02265 300325 REVIEWED 1344094 SSX7 synovial sarcoma, X breakpoint 7 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008] X X X p11.23 56425229 56436073 + 52689836 52700675 - 52673111 52683950 - 1580863 15772651;12216073;11179834 280658 Q7RTT5 ABBA01048009;ABBA01048010;ABBA01048011;AL450023;AMYH01022372;BK000687;CH471266;NM_173358 AAI40463;DAA00374;EAW55864;EAW55865;NP_775494;Q7RTT5 Hs.558712 OTTHUMP00000023317;protein SSX7 APPROVED protein-coding ENSG00000187754 19653 06727 300542 REVIEWED 1348093 SSX8 synovial sarcoma, X breakpoint 8 X X X p11.23 56446181 56457188 - 52670773 52679723 + 52651985 52662998 + 1580863;6480464 15772651;12216073 280659 Q7RTT4 ABBA01048012;ABBA01048013;AK302291;AL450023;AMYH01022372;BK000688;CH471266;DC399111;NR_027250 BAG63631;DAA00375;EAW55866;EAW55867;EAW55868;Q7RTT4 Hs.694472 pseudo ENSG00000157965 19654 06728 300543 VALIDATED 2311157 SSXP1 SSX family pseudogene 1 X X X p11.2 56468082 56475520 - 52650276 52657915 + 52633652 52641091 + 12216073 326336 AL450023;AMYH01022372;NG_002577 psiSSX1 pseudo 30637 INFERRED 3102876 SSXP10 SSX family pseudogene 10 6 6 q22.31 119653524 119654646 + 118910216 118911338 + 12216073 100287603 ABBA01026027;AMYH01016623;NG_021248;NG_022942;Z99496 psiSSX10 pseudo 30638 INFERRED 2311154 SSXP3 SSX family pseudogene 3 X X X p11.2 52212626 52222589 + 47900392 47911031 + 48015808 48025777 + 12216073 326341 ABBA01052441;ABBA01052442;AC244636;AL356464;AMYH01022272;NG_002580 2112512 DXS9833 psiSSX3 pseudo 30640 INFERRED 2311156 SSXP4 SSX family pseudogene 4 X X X p11.2 56480691 56482187 - 52643616 52645315 + 52626992 52628491 + 12216073 326337 ABBA01048017;AL450023;AMYH01022371;AMYH01022372;NG_002578 SSX10;psiSSX4 pseudo 30641 INFERRED 1347099 SSX4 synovial sarcoma, X breakpoint 4 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] X X p11.23 48127912 48137729 + 48242968 48252785 + 1580863;6480464 11107170;16189514;15814740;15772651;15489334;12477932;12216073;12037676;12007189;11433527;11368913;11179834;10359553;9378559;20211142;21347689 6759 A8MYD4;O60224 ABBA01019089;AL606490;AX740218;BC005325;BC103864;BC137394;BC137395;NM_005636;NM_175729;U90841 AAC05820;AAH05325;AAI03865;AAI37395;AAI37396;ABZ92238;CAD90570;NP_005627;NP_783856;O60224 Hs.558402;Hs.648298 1698568;5114531 RH102836;STS-H99655 CT5.4;MGC119056;MGC12411;SSX4B OTTHUMP00000024292;OTTHUMP00000216158;cancer/testis antigen 5.4;protein SSX4 APPROVED protein-coding ENSG00000204645 11338 02266 300326 REVIEWED 2311155 SSXP5 SSX family pseudogene 5 X X p11.2 52718196 52724455 + 52701572 52707631 + 12216073 326339 ABBA01048009;AL450023;NG_002579 psiSSX5 pseudo 30642 INFERRED 2799014 SSXP6 SSX family pseudogene 6 X X X p11.2 53374079 53374152 - 48176423 48176696 + 48291580 48291653 + 12216073 326587 AF196972;AMYH01022290;NG_002585 psiSSX6 pseudo 30643 INFERRED 2799012 SSXP7 SSX family pseudogene 7 X X X p11.2 53364376 53365834 - 48184741 48186399 + 48299898 48301356 + 12216073 326590 ABBA01045997;AF196972;AMYH01022290;NG_002587 psiSSX7 pseudo 30644 INFERRED 2799015 SSXP8 SSX family pseudogene 8 X X X p11.2 52332574 52335333 + 48020971 48023730 + 48136027 48138786 + 12216073 326585 ABBA01052460;AC245047;AL606490;AMYH01022273;NG_002583 psiSSX8 pseudo 30199 INFERRED 2799013 SSXP9 SSX family pseudogene 9 X X X p11.2 52377986 52384166 + 48066471 48072850 + 48181628 48187807 + 12216073 326586 AL606490;AMYH01022274;NG_002584 2181438 DXS8196 psiSSX9 pseudo 30645 INFERRED 736522 SSX2IP synovial sarcoma, X breakpoint 2 interacting protein This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009] 1 1 p22.3 84882184 84928768 - 85109390 85156240 - 6480464 11230166;12007189;11256614;18028484;16565220;16381901;16112646;15489336;15489334;14702039;12477932;12446711;11076863;10231032;17686061;17904521;19179477;19615732;21963094;21988832;23452395;23455924;21890473;21906983;19322201;22797925 117178 B7ZB07;C9JIX7;Q9UIX0 AB023140;ABBA01045651;ABBA01045652;AC114482;AK001710;AK021515;AK023097;AK093173;AK292475;AK294057;AK307336;AK316472;AL133046;AMYH01000752;AY367055;AY651262;BC033637;BC035580;BC064389;CH471097;NM_001166293;NM_001166294;NM_001166295;NM_001166417;NM_014021 AAH33637;AAH64389;AAQ72373;ABM82062;ABM85241;BAA76767;BAF85164;BAG50966;BAG52668;BAG57404;BAH14843;CAB61373;CAL38518;EAW73223;EAW73224;EAW73225;EAW73226;EAW73227;EAW73228;NP_001159765;NP_001159766;NP_001159767;NP_001159889;NP_054740;Q9Y2D8 Hs.22587 1654453;1665460;1857873;2121092;2164126;2171599;2184782 Cda0bg12;D1S2362;SHGC-24006;SHGC-75067;SHGC-75071;SHGC-75077;SHGC-75078 ADIP;FLJ10848;KIAA0923;MGC75026 OTTHUMP00000011574;OTTHUMP00000036082;SSX2-interacting protein;afadin DIL domain-interacting protein;afadin- and alpha-actinin-binding protein APPROVED protein-coding ENSG00000117155 16509 10566 608690 REVIEWED 1343405 ST11 suppression of tumorigenicity 11 (pancreas) 9218518 8466 11341 602011 1348550 ST13P suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20 20 20 p11.22 22326154 22328083 + 22200579 22202508 + 22252579 22254508 + 18849991;18849994 170553 AL049737;NG_001058 FAM10A2;FAM10A2P;dJ828K20.1 pseudo 16591 4140313 ST13P10 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10 11 11 11 q23.1 109291014 109292094 - 111643223 111644304 - 112138019 112139094 - 399950 ABBA01039797;AMYH01004035;AP002884;NG_021804 pseudo 38745 INFERRED 4140029 ST13P1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1 2 2 2 p25.1 12080840 12081912 + 12081051 12082023 + 12163686 12164758 + 23251661 729992 ABBA01015658;AC013471;AMYH01010118;NG_021556 pseudo 38715 INFERRED 1353514 SSX6 synovial sarcoma, X breakpoint 6 (pseudogene) This gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene is classified as a pseudogene because a splice donor in the 3' UTR has changed compared to other family members, rendering the transcript a candidate for nonsense-mediated mRNA decay (NMD). [provided by RefSeq, Aug 2009] X X X p11.2 52163320 52176024 + 47852032 47865013 + 47967367 47980068 + 1580863;6480464 17117414;15772651;12477932;12216073;11107170 280657 H0Y976;I3L092;Q7RTT6 ABBA01052435;ABBA01052436;AC244636;AK302765;AL356464;AL356797;AMYH01022268;BK000686;CH471164;NR_028366;Z98304 AAI48533;AAI53126;BAH13799;CAI40525;DAA00373;EAW59339;EAW59340;Q7RTT6 Hs.511998 FLJ53113;SSXP2;dJ54B20.1;psiSSX2 APPROVED pseudo ENSG00000171483 19652 18109 300541 REVIEWED 4139968 ST13P12 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12 5 5 5 q14.2 78169313 78177570 + 82300465 82308203 + 82264709 82272966 + 100127911 ABBA01062078;AC027338;AMYH01015451;NG_021887 pseudo 38787 INFERRED 4140077 ST13P13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13 10 10 10 q24.33 98715756 98716841 + 104965456 104966688 + 104975466 104976551 + 401648 ABBA01063116;AL360001;AMYH01003024;NG_022189 pseudo 38788 INFERRED 4140336 ST13P14 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14 3 3 50887937 50888533 - 50914496 50915092 - 100422602 ABBA01024536;AC131013;AMYH01013177;NG_025579;NG_028012 pseudo 38849 INFERRED 4140337 ST13P15 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15 3 3 141658703 141659809 - 143235965 143237071 - 100422603 ABBA01059013;AC073358;AMYH01013554;NG_025637 pseudo 38850 INFERRED 4140335 ST13P16 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16 6 6 88572908 88573688 - 88154116 88154896 - 100422605 ABBA01040494;AL049697;AMYH01016493;NG_025845 pseudo 38851 INFERRED 4140328 ST13P18 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18 X X X q21.32 93067986 93069009 - 92428969 92430414 - 92542735 92543758 - 643310 ABBA01064959;AL589877;AMYH01022687;NG_022623 pseudo 38861 INFERRED 4140166 ST13P17 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17 7 7 7 q34 133925370 133926730 + 138837740 138839103 + 139187200 139188560 + 442730 AACC02000024;ABBA01001192;AC005531;AMYH01017977;CH236950;NG_022574 pseudo 38859 INFERRED 4140167 ST13P11 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11 11 11 11 q21 91933990 91935080 + 94285860 94287503 + 94646212 94647302 + 728162 ABBA01040023;AMYH01003965;AP002383;NG_021831 pseudo 38746 INFERRED 4139977 ST13P19 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19 1 1 1 q32.2 183662372 183663975 - 208505445 208542732 - 210438982 210440584 - 100131961 ABBA01048203;AL035414;AMYH01001696;NG_022751 1858124 SHGC-76297 pseudo 38862 INFERRED 4139969 ST13P2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2 2 2 2 q32.1 182285840 182286945 + 188398313 188399664 + 188690068 188691173 + 344328 ABBA01062355;AC093377;AMYH01011342;NG_021594 pseudo 38716 INFERRED 4140052 ST13P20 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20 1 1 1 p31.1 80420055 80421413 + 81927873 81961564 + 82187385 82188743 + 729828 ABBA01074355;AL358939;AMYH01000742;NG_022788 1727713 G63120 pseudo 38863 INFERRED 6480898 ST13P22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22 12 102166892 102167199 - 100874521 ABBA01053237;AC063950;AMYH01004703;NG_032222 pseudo 38865 INFERRED 1346696 ST13P3 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3 12 12 12 q23.3 106074973 106077569 + 104933621 104936417 + 106409591 106412187 + 12079276 144638 ABBA01053173;AC011595;AMYH01004722;NG_004762 FAM10A3;FAM10A3P APPROVED pseudo 18552 INFERRED 4140362 ST13P21 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21 1 1 1 p13.3 107314951 107316024 + 108846503 108847055 + 109045001 109046074 + 642818 ABBA01068350;AL392088;AMYH01000925;NG_022797 pseudo 38864 INFERRED 1347927 ST13P6 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6 8 8 8 q24.22 130597491 130599152 + 134489289 134490950 + 134420107 134421768 + 12079276 157530 ABBA01014196;AF186191;AMYH01019038;NG_007353 FAM10A6;FAM10A6P APPROVED pseudo 18557 VALIDATED 1606578 SSX5 synovial sarcoma, X breakpoint 5 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013] X X X p11.23 52242468 52253581 - 47930600 47941143 - 48045656 48056199 - 6480464 16546222;15772651;15489334;12477932;12216073;12007189;11179834;11107170;9378559;20211142;10749136;16224274;17023585;21880588;9688183 6758 O60225;Q5JQ63 ABBA01052446;ABBA01052447;ABBA01052448;AC245047;AL356464;AL683817;AMYH01022272;BC016640;BE896093;CH471164;NG_012529;NM_021015;NM_175723;U90842 AAC05821;AAH16640;ABZ92237;ADR82771;CAI40522;CAI40523;CAI40524;CAI41130;CAI41133;CAI41134;EAW59342;EAW59343;NP_066295;NP_783729;O60225 Hs.166198 MGC9494 OTTHUMP00000023239;OTTHUMP00000023240;protein SSX5 APPROVED protein-coding ENSG00000165583 11339 02267 300327 REVIEWED 1352140 ST13P5 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5 11 11 11 p15.1 18415739 18417355 + 18239907 18241726 + 18283432 18285048 + 1580863 12079276;21906983;21987572 144106 Q8NFI4 ABBA01061059;AC107948;AF512499;AMYH01003419;NG_005653;NG_021330 AAM44055;Q8NFI4 Hs.567697 FAM10A5 APPROVED pseudo 18556 13288 INFERRED 4140068 ST13P8 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8 12 12 12 q14.1 58036175 58037141 - 56655196 56822294 - 58377578 58378544 - 23251661 338805 ABBA01026690;AC084033;AC090643;AMYH01004526;NG_021690 1339336;1677050;1705568;1847453;2141567 D12S1529;D12S2062;D12S90;RH15609;SHGC-83889 pseudo 38743 INFERRED 1348593 ST13P4 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 13 13 13 q14.3 31800773 31802371 + 49644155 49645753 + 50746154 50747752 + 1580863 17081983;16807684;12079276;20190752;21906983;22797925 145165 Q8IZP2 ABBA01051035;AF539468;AL157367;AMYH01005112;NR_002183 AAN16377;Q8IZP2 Hs.511834 FAM10A4;FAM10A4P APPROVED pseudo 18487 PROVISIONAL 1604130 SSX4B synovial sarcoma, X breakpoint 4B The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] X X p11.23 48146472 48156288 - 48261524 48271355 - 6480464 15814740;15772651;15489334;12477932;12216073;11368913;11179834;11107170;10359553;9378559;16189514;12107412;7566098 548313 A8MYD4;O60224 AA312651;AF196972;AL606490;AX740218;BC005325;BC103864;BC137394;BC137395;BE866727;CD671168;NM_001034832;NM_001040612;U90841 AAC05820;AAH05325;AAI03865;AAI37395;AAI37396;AAI48552;AAI53139;CAD90570;NP_001030004;NP_001035702;O60224 Hs.558402;Hs.648298 1698568;5114531 RH102836;STS-H99655 CT5.4;MGC169015;MGC169016;SSX4 CT5.4;OTTHUMP00000023258;OTTHUMT00000056510;cancer/testis antigen 5.4;protein SSX4 APPROVED protein-coding ENSG00000198946 16880 REVIEWED 1347794 ST2 suppression of tumorigenicity 2 6761 11347 185440 4139978 ST13P9 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9 12 12 12 p11.1 13414563 13415672 + 33498548 33499660 + 33607281 33608390 + 390301 ABBA01031691;AC016956;AMYH01004378;NG_021711 pseudo 38744 INFERRED 7205260 ST20-MTHFS ST20-MTHFS readthrough This locus represents naturally occurring read-through transcription between the neighboring suppressor of tumorigenicity 20 and 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) genes on chromosome 15. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 15 q25.1 80135889 80215448 - 100528021 P49914 ABBA01060616;AC015871;AC021483;AMYH01006846;BG705061;CK002935;DB495490;NM_001199760 NP_001186689 Hs.459049 1650678;1662627;1673189;1850702 RH17648;RH77833;RH78912;WI-20294 ST20-MTHFS protein protein-coding 44655 VALIDATED 1626538 ST20 suppressor of tumorigenicity 20 15 15 15 q25.1 57127488 57152383 - 77978237 78003132 - 80191182 80216096 - 6480464 11857354;20967262 400410 Q9HBF5 AA282293;ABBA01060616;AC015871;AF249277;AL109714;AMYH01006846;BM559302;BQ680929;CH471136;NM_001100879;NM_001100880;NM_001199757;NR_037652;NR_037653 AAG17280;EAW99130;NP_001094349;NP_001094350;NP_001186686;Q9HBF5 Hs.729127 1662757;1689626;1723247;1769363;1853733;2220658 RH122310;RH68628;RH93686;SHGC-64943;STS-U27467;UniSTS:487268 HCCS-1 cervical cancer suppressor-1;human cervical cancer suppressor gene 1 protein;suppressor of tumorigenicity 20 protein protein-coding ENSG00000180953 33520 VALIDATED 1342745 ST3 suppression of tumorigenicity 3 7240710 6762 11348 7241713 ST3GAL1P1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1 100421804 ABBA01022900;AC079880;AMYH01014248;NG_025114 pseudo 45174 INFERRED 1350884 SSX9 synovial sarcoma, X breakpoint 9 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [provided by RefSeq, Jul 2008] X X X p11.23 52351422 52360460 - 48039829 48050558 - 48154885 48165732 - 1580863;6480464 16344560;15772651;12477932;12216073 280660 Q7RTT3 AL606490;AMYH01022274;BK000689;CH471164;DB029485;NR_073393 AAI60077;DAA00376;EAW59346;Q7RTT3 Hs.553667 1701952;1734340;5114531 DXS6950;STS-H99655;UniSTS:99030 APPROVED pseudo 19655 06729 300544 VALIDATED 1350772 ST13P7 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7 7 7 7 q33 127604291 127606888 - 132503300 132505896 - 132852760 132855356 - 12477932;12079276 155019 AACC02000027;ABBA01001100;AC083873;AMYH01017949;CH236950;NG_008738 FAM10A7;FAM10A7P APPROVED pseudo 18558 INFERRED 736954 ST18 suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 8 8 8 q11.23 49013896 49312800 - 53185952 53484856 - 53023392 53322439 - 1580863;6480464 18676404;16344560;15489893;15489334;12477932;12107411;9628581;20379614;23505305;22437316;23535033 9705 E5RFE8;E5RHS3;E5RHY1;E5RID0;E5RK88;O60284 AB011107;ABBA01041697;ABBA01041698;ABBA01041699;AC021915;AC103831;AK311188;AMYH01018715;BC031075;BC117147;BC117149;BC143871;BC143872;BC143873;BC143875;BQ639545;CH471068;DA288225;NM_014682 AAI17148;AAI17150;BAA25461;EAW86715;EAW86716;EAW86717;NP_055497;O60284 Hs.655499 1298285;1341631;1697640;1708114;1715945;1717429;1752077;1772631;1851628;1857303;2110765;2128580;2175534;2176212 D8S1110;D8S1833;D8S1933;D8S2071;D8S567;RH102335;RH122205;RH122708;SHGC-106019;SHGC-35973;SHGC-53515;SHGC-81457;ST18_2399;STS-R27812 KIAA0535;ZC2HC10;ZNF387 OTTHUMP00000226230;neural zinc finger factor 3;suppression of tumorigenicity 18 protein;zinc finger protein 387 protein-coding ENSG00000147488 18695 18110 VALIDATED 733374 ST14 suppression of tumorigenicity 14 (colon carcinoma) The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008] 11 11 q24-q25 129534892 129585467 + 130029682 130080257 + 1580863;2315087;2315088;2315089;2315090;2315092;2315093;2315091;6480464;7240710 19443387;18813126;17163404;16501837;17456594;16021568;16439987 22081509;22582115;10373424;10831593;19242518;18843291;18723439;18713750;18649738;18649735;18550704;18514224;18274158;18263585;17981575;17981566;17978729;17940283;17389401;17344310;17273967;17228523;17131055;16820046;16794252;16407223;16353247;16341674;16273651;16237759;16103220;16007225;15611789;15489334;15200890;15075215;14747469;14584072;12738778;12498394;12477932;12372819;11864986;11792696;11290548;11125283;10962009;10500122;10373425;9925927;20601429;20716618;20971737;20696767;19535514;19546220;19578749;19940125;20015050;20142489;20145119;20379614;20652801;21098708;21123732;21148558;21217780;21097670;23248318;19911255;21795523;22088470;22118498;21678412;21906983;22031598;22154938;22514623;21963094;21988832;23365447;23443662;23044656;23192872;22035541;22811538;22783993;23443661 6768 Q9Y5Y6 AB030036;ABBA01023031;ABBA01023032;ABBA01023033;AF057145;AF118224;AF133086;AF283256;AK302454;AK314173;AMYH01004128;AP001183;BC005826;BC018146;BC030532;BM791311;BQ059215;CH471065;NG_012132;NM_021978 AAD42765;AAF00109;AAG13949;AAG15395;AAH05826;AAH18146;AAH30532;ABM82552;ABM85368;BAB20376;BAG36856;BAG63749;EAW67776;NP_068813;Q9Y5Y6 Hs.504315 1712102;1718055;1790891;2106327;2106329;7184135 6-38576;D6S2443;D6S2662;G54100;RH122645 HAI;MT-SP1;MTSP1;PRSS14;SNC19;TADG15;TMPRSS14 OTTHUMP00000230931;OTTHUMP00000230932;membrane-type serine protease 1;prostamin;serine protease 14;serine protease TADG-15;suppression of tumorigenicity 14;suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin);suppressor of tumorigenicity 14 protein;tumor associated differentially expressed gene 15 protein;tumor-associated differentially-expressed gene 15 protein APPROVED protein-coding ENSG00000149418 11344 06005 606797;610765 REVIEWED 1348054 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 55055306 55114849 + 68970839 69030492 - 70413338 70472991 - 6480464;6907045 16169070;9266697;15489334;14702039;12716912;12504121;12477932;8920913;7655169;2829950;2649653;2542563;2541446;2187500;18029348 6483 B3KXG9;Q16842 ABBA01010662;ABBA01010663;ABBA01010664;ABBA01010665;ABBA01010666;ABBA01010667;AC012184;AF086257;AI933719;AK127322;AK313020;AMYH01007784;BC036777;BC064480;BI832366;CH471241;FB715178;NM_006927;U63090;X96667 AAB40389;AAH36777;ADZ15923;BAG35855;BAG54481;CAA65447;CAS91689;EAW51818;EAW51819;EAW51820;EAW51821;NP_008858;Q16842 Hs.368611 2123009;2139675;2155149;5015961 D15S1477;SHGC-60683;SHGC-60743;STS-X96667 Gal-NAc6S;SIAT4B;ST3GALII;ST3GalA.2 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2;Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase;OTTHUMP00000174904;SIAT4-B;ST3Gal II;alpha 2,3-ST 2;beta-galactoside alpha-2,3-sialyltransferase 2;beta-galactoside alpha-2,3-sialytransferase;sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase) APPROVED protein-coding ENSG00000157350 10863 06220 607188 REVIEWED 7241792 ST3GAL5P1 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 pseudogene 1 100421795 ABBA01066754;AC109491;AMYH01015007;NG_024584 pseudo 45175 INFERRED 7245808 ST3GAL4-AS1 ST3GAL4 antisense RNA 1 (head to head) 14702039;16344560 399972 ABBA01031221;AK096370;AMYH01004112;AP001318;BF343672;DA746418;NR_033839 Hs.585206 1652044;1700808;2131480;2131482;2165177 A005N41;A008S31;G20363;RH104029;SHGC-34118 DCPS-AS1 miscrna 48645 VALIDATED 6481165 ST3GAL6-AS1 ST3GAL6 antisense RNA 1 3 98433177 98451495 - 100874207 ABBA01061816;AC106728;AMYH01013352;AMYH01013353;BG821580;CA310342;NR_046683 Hs.633553 APPROVED miscrna ENSG00000239445 40828 VALIDATED 1350060 ST4 suppression of tumorigenicity 4 (malignant melanoma) 1680551 6763 11349 1603709 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008] 8 8 q24.22 134540312 134653344 - 134467091 134584183 - 6480464;6907045 2649653;23275522;10504389;18519826;18180429;18163389;17947642;17101770;16053379;15489334;15146197;14722111;14702039;12477932;11690653;8027041;7655169;2829950;2542563;2541446;2187500;20534593;19811634;20200978;20379614;22534569 6482 E5RG72;E5RGI3;E5RGL4;E5RH34;E5RHV6;Q11201 ABBA01014195;AC103706;AF059321;AF186191;AK093867;AK311319;AL709325;AL833743;AMYH01019038;BC018357;BC048803;BC063665;BX537506;BX648001;CH471060;CN359425;FB715176;L13972;L29555;NM_003033;NM_173344 AAA36612;AAC17874;AAC37574;AAH18357;ABM82082;ABM85261;CAS91688;EAW92172;EAW92173;EAW92174;NP_003024;NP_775479;Q11201 Hs.374257 1341013;1341420;1648508;1658185;1684534;1708552;1759423;1773111;1849745;2111182;2149517;2155781;2178780;5014063;5016781 D15S1390;D8S1708;D8S1990;D8S581E;RH16392;RH17620;RH45430;RH78906;RH98815;SHGC-151193;SHGC-32958;SHGC-67307;SHGC-85058;WI-17797;WI-18021 DKFZp666E036;DKFZp779K2051;FLJ36548;Gal-NAc6S;MGC9183;SIAT4A;SIATFL;ST3GalA;ST3GalA.1;ST3GalIA;ST3GalIA,1;ST3O CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1;Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase;OTTHUMP00000226912;OTTHUMP00000226913;SIAT4-A;ST3GalI;alpha 2,3-ST 1;beta-galactoside alpha-2,3-sialyltransferase 1;sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase);sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase);sialyltransferase 4A (beta-galactoside alpha-2,3-sialytransferase) APPROVED protein-coding ENSG00000008513 10862 06219 607187 REVIEWED 1603708 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 1 1 p34.1 43945805 44169418 + 44173204 44396837 + 6480464;6907045;7240710 12477932;19727557;8333853;15489334;15316282;12931020;12815231;12697334;9451034;8027041;2829950;2649653;2542563;2541446;2187500;16169070;17207965;19781661;20379614;21907012;21782286;23252400;22959728 6487 B4DX62;E9PJI3;E9PJX2;E9PNN5;H0YEP7;Q8IX54 AA478788;ABBA01050938;ABBA01050939;ABBA01050940;ABBA01050941;ABBA01050942;ABBA01050943;ABBA01050944;ABBA01050945;ABBA01050946;AF425851;AF425852;AF425853;AF425854;AF425855;AF425856;AF425857;AF425858;AF425859;AF425860;AF425861;AF425862;AF425863;AF425864;AF425865;AF425866;AF425867;AF425868;AF425869;AK301829;AK310265;AL357079;AL451062;AL592548;AMYH01000562;AY051143;AY167992;AY167993;AY167994;AY167995;AY167996;AY167997;AY167998;BC050380;CH471059;GM603710;L23768;NG_028196;NM_001270459;NM_001270460;NM_001270461;NM_001270462;NM_001270463;NM_001270464;NM_001270465;NM_001270466;NM_006279;NM_174963;NM_174964;NM_174965;NM_174966;NM_174967;NM_174968;NM_174969;NM_174970;NM_174971;NR_073016;NR_073017;NR_073018;NR_073019;NR_073020;NR_073021;NR_073023 AAA35778;AAH50380;AAL14347;AAO13859;AAO13860;AAO13861;AAO13862;AAO13863;AAO13864;AAO13865;AAO13866;AAO13867;AAO13868;AAO13869;AAO13870;AAO13871;AAO13872;AAO13873;AAO13874;AAO13875;AAO13876;AAO13877;AAO38806;AAO38807;AAO38808;AAO38809;AAO38810;AAO38811;AAO38812;ADQ33059;BAG63274;CAT03463;EAX07082;EAX07083;EAX07084;NP_001257388;NP_001257389;NP_001257390;NP_001257391;NP_001257392;NP_001257393;NP_001257394;NP_001257395;NP_006270;NP_777623;NP_777624;NP_777625;NP_777626;NP_777627;NP_777628;NP_777629;NP_777630;NP_777631;Q11203 Hs.597915 1341004;1673155;1693022;1722653;1771743;1781826;2108473;2111093;2118807;2148831 AL009731;AL034219;D1S211;D1S353E;G60410;RH47524;SHGC-172020;SHGC-32893;SHGC-74694;SIAT6_8628 EIEE15;MRT12;SIAT6;ST3GALII;ST3GalIII;ST3N CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase;Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase;N-acetyllactosaminide alpha-2,3-sialyltransferase;OTTHUMP00000008811;OTTHUMP00000008812;OTTHUMP00000008813;OTTHUMP00000008814;OTTHUMP00000008815;OTTHUMP00000008816;OTTHUMP00000008817;OTTHUMP00000008819;OTTHUMP00000008820;OTTHUMP00000008821;OTTHUMP00000008822;OTTHUMP00000008823;OTTHUMP00000231087;OTTHUMP00000231088;OTTHUMP00000231089;OTTHUMP00000231091;OTTHUMP00000231092;OTTHUMP00000231094;OTTHUMP00000231096;OTTHUMP00000231140;OTTHUMP00000231141;ST3Gal III;alpha 2,3-ST 3;alpha 2,3-sialyltransferase III;alpha-2,3-sialyltransferase II;beta-galactoside alpha-2,3-sialyltransferase 3;gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase;sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) APPROVED protein-coding ENSG00000126091 10866 05930 606494;611090;615006 REVIEWED 733794 ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] 22 22 q13.2 39550545 39582633 - 41220599 41252687 - 1580863;2326084;6480464 16356826 21319273;8721986;17535810;17081983;17013759;16807684;16358374;15845543;15664198;15637739;15489334;15461802;15231748;15071092;12477932;11751889;11687574;11559757;10781595;10702249;10591208;10508479;9925927;9857057;9594214;9452498;9387309;9292708;8887650;16169070;21767636;15174051;17324930;20193743;20512919;20534503;20936779;15647277;21163940;22939629;19738201;21963094;21987572;22053931;23000965;8889548;22863883;21728385;21875946;21240662;18781797;21139048;21890473;21900206;21906983;19471022;19322201;18654987;19875381;23383273;22505724 6767 F6VDH7;F8WAQ7;H7C3I1;P50502 ABBA01055609;AF116650;AK130770;AK303530;AK312399;AK316155;AMYH01012796;AY513286;AY826824;AY826825;BC015317;BC052982;BC071629;BC101206;BC101207;BC101208;BC107148;BC121107;BC121108;BC139724;BG706239;BM679025;CH471095;CR456586;NM_001278589;NM_003932;U17714;U28918;Z98048 AAB38382;AAC97526;AAF71070;AAH15317;AAH52982;AAH71629;AAI07149;AAI21108;AAI21109;AAI39725;AAT08039;AAX18644;AAX18645;BAG64558;BAH14526;CAG30472;CAK54617;CAK54916;EAW60394;EAW60395;EAW60396;NP_001265518;NP_003923;P50502 Hs.712713 1681308;1687888;1723705;1798222;2168402;2168404;5109729;5117170;5493163 A001Y34;D12S1174E;D22S980E.1;G19794;GDB:451586;RH118753;RH92006;ST13_2133;UniSTS:484527 AAG2;FAM10A1;FAM10A4;FLJ27260;HIP;HOP;HSPABP;HSPABP1;MGC129952;P48;PRO0786;SNC6 Hsp70-interacting protein;OTTHUMP00000199376;aging-associated protein 2;heat shock 70kD protein binding protein;hsc70-interacting protein;progesterone receptor-associated p48 protein;putative tumor suppressor ST13;renal carcinoma antigen NY-REN-33;suppression of tumorigenicity 13 (colon carcinoma) hsp70-interacting protein;suppression of tumorigenicity 13 protein APPROVED protein-coding ENSG00000100380 11343 08426 606796 REVIEWED 6481068 ST6GAL2-IT1 ST6GAL2 intronic transcript 1 (non-protein coding) 100874354 AC016994 miscrna 41380 1353529 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 11 11 q24.2 125731306 125789743 + 126225540 126284536 + 6480464;6907045 8557707;17054948;15489334;14702039;12565846;12477932;12459555;12441665;12375029;8611500;8288606;7901202;7655169;7588599;2829950;2649653;2542563;2541446;2187500;20383541;16169070;19520807;19781661;20237496;20379614;21378990;15342556;16344560;21906983;21140242;20686565;22001757;22691873 6484 E9PKJ2;E9PMC7;E9PN64;E9PNJ9;E9PPJ6;E9PQZ2;Q11206;Q6IBE6 ABBA01031221;AF035249;AF516602;AF516603;AF516604;AF525084;AK021929;AK128605;AK291577;AK314738;AL520639;AL529887;AMYH01004112;AMYH01004113;AP000806;AP001318;AY040826;BC010645;BI259855;BP320415;CH471065;CR456858;DA210431;DA841563;FB715182;L23767;L29553;NM_001254757;NM_001254758;NM_001254759;NM_006278;X74570 AAA16460;AAC14162;AAH10645;AAK93790;AAM66431;AAM66432;AAM66433;AAM81378;ACE86638;ACE87320;BAB13940;BAF84266;BAG37279;CAA52662;CAG33139;CAS91691;EAW67693;EAW67694;EAW67695;EAW67696;EAW67697;NP_001241686;NP_001241687;NP_001241688;NP_006269;Q11206 Hs.591947 1653687;1752877;1761721;1763443;1765515;2115950;2128963;2144994;2147085;5118444 D11S3316;G16009;NIB1898;RH16006;SHGC-106774;SHGC-145694;SHGC-147154;SHGC-148997;SIAT4C;STS-L29553 CGS23;FLJ11867;FLJ46764;NANTA3;SAT3;SIAT4;SIAT4C;ST3GalIV;STZ CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4;OTTHUMP00000231115;OTTHUMP00000231117;OTTHUMP00000231118;OTTHUMP00000231119;OTTHUMP00000231123;OTTHUMP00000231124;OTTHUMP00000231125;OTTHUMP00000231126;OTTHUMP00000231127;OTTHUMP00000231128;SAT-3;SIAT4-C;ST-4;ST3GalA.2;alpha 2,3-ST 4;alpha 2,3-sialyltransferase IV;alpha-3-N-acetylneuraminyltransferase;beta-galactoside alpha-2,3-sialyltransferase 4;gal-NAc6S;gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase;sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase);sialyltransferase 4C (beta-galactoside alpha-2,3-sialytransferase) APPROVED protein-coding ENSG00000110080 10864 00084 104240 VALIDATED 1346095 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p11.2 85919782 85969668 - 86066271 86116157 - 6480464;6907045 9822625;18974200;18480157;16934889;15815621;15502825;15385432;14702039;12975309;12527423;12477932;12393190;11595162;11030748;10619706;10092602;8889548;19415461;19709745;19759399;20219466;20800603;20628624;21571640;21699754;18051367 8869 C9JYS9;E7EPY0;F8WEA8;G3V199;Q9UNP4 AB018356;ABBA01075770;AC105053;AF105026;AF119415;AF119417;AF119418;AF161396;AF344831;AF488709;AK001340;AK127346;AMYH01010498;AY152815;AY359105;BC009887;BC065936;BI820835;CA503200;CH471053;NG_012807;NM_001042437;NM_003896 AAD14634;AAF28956;AAF66146;AAH65936;AAO16866;AAQ89463;AAY24147;BAA33950;BAG50894;EAW99474;EAW99475;EAW99476;EAW99477;EAW99478;EAW99479;EAW99480;NP_001035902;NP_003887;Q9UNP4 Hs.415117 1336505;1650220;1670687;1753617;1760957;2110733;2170400;5022200;5022578;5037552;7186134 D1S1423;D2S388;D8S2279;L18426;RH48544;RH70638;SHGC-107513;SHGC-144914;SIAT9__5414;STS-W56550 SATI;SIAT9;SIATGM3S;ST3GalV CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase;GM3 synthase;OTTHUMP00000160672;OTTHUMP00000160673;OTTHUMP00000160674;ST3Gal V;alpha 2,3-sialyltransferase V;ganglioside GM3 synthase;lactosylceramide alpha-2,3-sialyltransferase;sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) APPROVED protein-coding ENSG00000115525 10872 05098 604402 REVIEWED 7241609 ST6GALNAC2P1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 pseudogene 1 100422716 ABBA01075715;AC016908;AMYH01010488;NG_023578 1722101;2124296 D2S1419;G60092 pseudo 45160 INFERRED 1348221 ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 2 2 2 q11.2-q12.1 101627429 101712930 - 106789538 106869982 - 107418056 107503563 - 6480464;6907045 12235148;19240061;16344560;15146197;14702039;12603328;12477932;11347906;19768537;19850283;20379614;20800603 84620 C9JIK2;H7BY52;Q96JF0 AB058780;AB059555;ABBA01043978;AC005040;AC016994;AC108049;AJ512141;AK055273;AK095049;AK095653;AK307784;AMYH01010846;BC008680;BQ016989;CH471127;CN365495;DA176100;FB715162;NG_031986;NM_001142351;NM_001142352;NM_032528 AAH08680;AAY15022;ADZ15392;BAB47506;BAC24793;CAD54408;CAS91680;EAX01742;EAX01743;NP_001135823;NP_001135824;NP_115917;Q96JF0 Hs.98265 1654038;1675465;2118783;5014051;5015861;5037552;7185938 D10S16;D8S2278;D8S2279;RH68846;RH92565;STS-M78345 FLJ30711;FLJ37730;FLJ38334;KIAA1877;SIAT2;ST6GalII CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 2;OTTHUMP00000161529;OTTHUMP00000203341;OTTHUMP00000203342;ST6Gal II;alpha 2,6-ST 2;beta-galactoside alpha-2,6-sialyltransferase 2;beta-galactoside alpha-2,6-sialyltransferase II;hST6Gal II;sialyltransferase 2 (monosialoganglioside sialyltransferase) APPROVED protein-coding ENSG00000144057 10861 12237 608472 REVIEWED 1349171 ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 71213224 71232267 - 72132440 72151489 - 74620845 74639894 - 6480464;6907045 10536037;19287074;17081983;16344560;16319059;12975309;12820722;12770770;12477932;10207017;20378551;20379614;21139048;22228572 55808 G3XAD9;K7EJA8;K7EJC9;K7ELU9;K7EMB6;Q9NSC7;Q9NXQ7 ABBA01028735;ABBA01028736;AC005837;AK000113;AK310906;AMYH01008647;AY096001;AY358918;BC022462;BC063830;CH471099;DA594489;FB715164;NM_018414;Y11339;Y11340 AAH22462;AAM22800;AAQ89277;ADZ15387;BAA90953;CAA72179;CAA72180;CAS91682;EAW89419;EAW89420;EAW89421;EAW89422;EAW89423;NP_060884;Q9NSC7 Hs.105352 2123665;2190359;2190369;2190373 D17S2192;D17S2238;D17S2243;D17S2245 HSY11339;SIAT7A;ST6GalNAcI;STYI GalNAc alpha-2, 6-sialyltransferase I, long form;SIAT7-A;ST6GalNAc I;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1;galNAc alpha-2,6-sialyltransferase I;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A;sialyltransferase 7A APPROVED protein-coding ENSG00000070526 23614 15340 610138 VALIDATED 1319089 ST5 suppression of tumorigenicity 5 This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008] 11 11 11 p15 8832533 9052256 - 8671475 8889074 - 8714899 8932498 - 6480464 12477932;9632734;17081983;15489334;15231748;11528127;10692462;10229203;8972856;1390339;15778465;19843505;20379614;19850743 6764 B4DDL8;E9PI58;E9PI67;E9PI72;E9PII1;E9PJC3;E9PJP0;E9PJY5;E9PK36;E9PKE0;E9PKM1;E9PKN3;E9PKV3;E9PLB6;E9PLD7;E9PLH5;E9PLH6;E9PLR2;E9PM32;E9PM84;E9PME1;E9PMJ9;E9PMP1;E9PN93;E9PNM8;E9PNX7;E9PPL2;E9PPS6;E9PQA9;E9PQM5;E9PQU6;E9PRS6;H0YD60;H0YDL0;H0YE59;H0YEK3;H0YEL1;Q9BQQ6 ABBA01061203;ABBA01061204;ABBA01061205;ABBA01061206;ABBA01061207;ABBA01061208;ABBA01061209;ABBA01061210;AC026894;AC091053;AJ400879;AK126554;AK127763;AK293245;AK302824;AK307617;AK309929;AK312305;AK312758;AMYH01003377;BC036655;BX647431;CH471064;NG_029450;NM_005418;NM_139157;NM_213618;S45936;U15131;U15779;U15780 AAB23647;AAB97097;AAC50925;AAC50926;AAH36655;ABM83409;ABM86620;BAC86590;BAG35624;BAG54568;BAG56779;BAG64021;CAC35387;EAW68617;EAW68618;NP_005409;NP_631896;NP_998783;P78524 Hs.117715 1339182;1673413;1731531;1738019;1754961;1764053;1773721;1775459;1798224;2125044;2131983;2137724;2141319;2148865;2156728;2160228;2172873;2191783 D11S1047;D11S1069;D11S1250;D11S2404;D11S2610;D11S3629;D11S4962;D11S909;G35676;MARC_7533-7534:996687916:1;RH35822;RH45066;SHGC-141875;SHGC-147713;ST5;ST5_2189;STS-AA041300;WI-19621 DENND2B;HTS1;MGC33090;p126 DENN domain-containing protein 2B;DENN/MADD domain containing 2B;OTTHUMP00000231167;OTTHUMP00000231168;OTTHUMP00000231169;OTTHUMP00000231170;OTTHUMP00000231171;OTTHUMP00000231174;heLa tumor suppression 1;suppression of tumorigenicity 5 protein APPROVED protein-coding ENSG00000166444 11350 00780 140750 REVIEWED 6480902 ST6GALNAC4P1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1 13 20392322 20392751 - 100874524 ABBA01068565;AL354808;AMYH01004942;NG_032337 pseudo 39660 INFERRED 1349452 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012] 3 3 3 q12.1 96843261 96904902 + 99934262 99995927 + 98451080 98514689 + 6480464;6907045 10206952;18485915;15489334;14702039;12477932;20532202;19781661;17944600;21832049;21147760;11587543;16344560;17662891;20826224;22025563;22649524;22700726 10402 C9IZL6;C9J0E2;C9J480;C9J9Y4;C9JMW7;C9JWI9;C9JWJ3;C9JXM2;F2Z2F4;F8WC98;Q9Y274 AB022918;ABBA01061814;ABBA01061815;ABBA01061816;AC106728;AF119391;AK001922;AK315111;AL539506;AMYH01013353;BC001266;BC012092;BC023312;CB960395;CH471052;DB036799;FB715186;HH924881;HI578556;HY123342;NM_001271142;NM_001271145;NM_001271146;NM_001271147;NM_001271148;NM_006100 AAD39131;AAH23312;BAA77609;BAG37569;BAG50993;CAS91693;CBX32761;CBX46694;EAW79849;EAW79850;EAW79851;EAW79852;EAW79853;NP_001258071;NP_001258074;NP_001258075;NP_001258076;NP_001258077;NP_006091;Q9Y274 Hs.148716 1335615;1668986;1674147;1675124;1735234;1756811;1775499;1850007;2110731;2124703;2163570;5022578;7186675 D1S1423;D2S1767;D3S1603;D3S2900E;RH78574;SGC34494;SHGC-143949;SHGC-57396;SHGC-77137;SHGC-77145;SIAT10_9103;WI-19841 SIAT10;ST3GALVI CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI;OTTHUMP00000213913;OTTHUMP00000213917;OTTHUMP00000213926;OTTHUMP00000213930;OTTHUMP00000213932;ST3Gal VI;alpha2,3-sialyltransferase;alpha2,3-sialyltransferase ST3Gal VI;sialyltransferase 10 (alpha-2,3-sialyltransferase VI);type 2 lactosamine alpha-2,3-sialyltransferase APPROVED protein-coding ENSG00000064225 18080 06195 607156 REVIEWED 1601776 ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Three transcript variants encoding two different isoforms have been described. [provided by RefSeq, Aug 2009] 3 3 q27-q28 188131210 188279035 + 186648315 186796341 + 6480464;6907045 1730763;7786324;19413643;19170967;19150807;19013288;18650447;17897958;17697868;16319516;16192407;16053379;15489334;14702039;14514712;12943659;12931020;12878221;12798701;12692561;12499376;12477932;11356854;11320056;10460832;9110174;8995311;8953271;8920923;8724135;8702538;8619474;8477718;8144653;7768954;7615680;2803295;2408023;2373995;21778787;17207965;16344560;17441333;19483685;19709745;20003255;20127017;20379614;20656882;22449099;21147760;21550977;21930713;21140242;21906983;21874001;23358684;23504322;22960999;23382691 6480 B2R513;C9IYS8;C9J6X5;C9JAT4;C9JFM4;C9JH16;C9JI90;C9JKG0;C9JPG6;C9JR47;C9JTR0;C9JVK7;C9K0R8;H7C472;P15907 A17362;A23699;ABBA01058378;ABBA01058379;AC007488;AC007690;AF007133;AK128726;AK292879;AK312023;AMYH01013741;BC031476;BC040009;CH471052;DB152155;DB235666;FB715160;L11720;NM_003032;NM_173216;NM_173217;X17247;X54363;X62822 AAH31476;AAH40009;ADQ31971;BAF85568;BAG34960;CAA01327;CAA01686;CAA35111;CAA38246;CAA44634;CAS91678;EAW78158;EAW78159;EAW78160;EAW78161;EAW78162;EAW78163;EAW78164;NP_003023;NP_775323;NP_775324;P15907 Hs.207459 1743095;1747985;1774229;1854174;2119158;2167513;2220012;5094791 D3S3897;G66759;GDB:252090;RH16625;SIAT1__5407;STS-R00114;STS-X17247;TTTA040 MGC48859;SIAT1;ST6GalI;ST6N B-cell antigen CD75;CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase;CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1;OTTHUMP00000210001;OTTHUMP00000210002;OTTHUMP00000210004;OTTHUMP00000210015;ST6Gal I;alpha 2,6-ST 1;beta-galactoside alpha-2,6-sialyltransferase 1;sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase) APPROVED protein-coding ENSG00000073849 10860 00184 109675 REVIEWED 1349937 ST7-AS1 ST7 antisense RNA 1 7 7 7 q31.2 111399916 111402095 - 116379736 116381624 - 116592500 116594388 - 12213198 93653 AACC02000001;ABBA01057804;AC106873;AF400039;AMYH01017885;CH236947;NR_002330 Hs.597516 1788256;1806572;1818558;1820254;1820522;1842702;1988794;1988796;1988798;1988800;1988802;1988804;1988806;1988808;1988810;1988812;1988814;1988816;1988818;1988820;1988822;1988824 D7S3112;ECD04243;ECD10341;ECD11201;ECD11336;ECD22558;REN65301;REN65302;REN65303;REN65304;REN65305;REN65306;REN65307;REN65308;REN65309;REN65310;REN65311;REN65312;REN65313;REN65314;REN65315;REN65316 ST7AS1;ST7OT1 APPROVED miscrna ENSG00000227199 16000 PROVISIONAL 1353207 ST7-AS2 ST7 antisense RNA 2 7 7 7 q31.2 111560831 111594099 - 116539582 116572850 - 116752346 116785614 - 12213198 93654 AACC02000001;ABBA01057803;AC002542;AF400040;AF400041;AF400042;AF400043;AF400045;AMYH01017885;CH236947;NR_002331 Hs.628891;Hs.737649;Hs.744432 1700800;1711762;1799678;1800784;1803038;1803108;1803442;1803588;1804544;1804598;1806172;1807596;1808492;1809886;1812224;1812500;1813152;1813288;1813522;1814540;1818350;1821376;1823174;1823918;1824622;1825028;1825970;1827782;1827784;1829112;1829362;1831726;1834036;1838726;1840636;1842312;1845368;1846242;1846526;1987430;1987432;1987434;1987436;1987438;1987440;1987442;1987444;1987446;1987448;1987450;1987452;1987454;1987456;1987458;1987460;1987462;1987464;1987466;1987468;1987470;1987472;1987474;1987476;1987478;1987480;1987482;1987484;1987486;1987488;1987490;1987492;1987494;1987496;1987498;1987500;1987502;1987504;1987506;1987508;1987510;1987512;1987514;1987516;1987518;1987520;1987522;1987524;1987526;1987528;1987530;1987532;1987534;1987536;1987538;1987540;1987542;1987544;1987546;1987548;1987550;1987552;1987554;1987556;1987558;1987560;1987562;1987564;1987566;1987568;1987570;1987572;1987574;1987576;1987578;1987580;1987582;1987584;1987586;1987588;1987590;1987592;1987594;1987596;1987598;1987600;1987602;1987604;1987606;1987608;1987610;1987612;1987614;1987616;1987618;1987620;1987622;1987624;1987626;1987628;1987630;1987632;1987634;1987636;1987638;1987640;1987642;1987644;1987646;1987648;1987650;1987652;1987654;1987656;1987658;1987660;1987662;1987664;1987666;1987668;1987670;1987672;1987674;1987676;1987678;1987680;1987682;1987684;1987686;1987688;1987690;1987692;1987694;1987696;1987698;1987700;1987702;1987704;1987706;1987990;1987992;2094020;2094074;2094076;2094078;2094080;2094082;2094084;2094086;2094088;2094090;2094092;2094094;2094096;2094098;2094100;2094102;2094104;2094106;2094108;2094110;2094112;2094114;2094116;2094118;2094120;2094122;2094124;2094126;2094128 ECD00693;ECD01254;ECD02410;ECD02445;ECD02618;ECD02696;ECD03201;ECD03231;ECD04040;ECD04770;ECD05228;ECD05935;ECD07119;ECD07257;ECD07595;ECD07664;ECD07782;ECD08300;ECD10232;ECD11772;ECD12675;ECD13053;ECD13409;ECD13613;ECD14094;ECD15013;ECD15014;ECD15683;ECD15812;ECD17000;ECD18166;ECD20541;ECD21508;ECD22359;ECD23901;ECD24341;ECD24484;G49392;REN64617;REN64618;REN64619;REN64620;REN64621;REN64622;REN64623;REN64624;REN64625;REN64626;REN64627;REN64628;REN64629;REN64630;REN64631;REN64632;REN64633;REN64634;REN64635;REN64636;REN64637;REN64638;REN64639;REN64640;REN64641;REN64642;REN64643;REN64644;REN64645;REN64646;REN64647;REN64648;REN64649;REN64650;REN64651;REN64652;REN64653;REN64654;REN64655;REN64656;REN64657;REN64658;REN64659;REN64660;REN64661;REN64662;REN64663;REN64664;REN64665;REN64666;REN64667;REN64668;REN64669;REN64670;REN64671;REN64672;REN64673;REN64674;REN64675;REN64676;REN64677;REN64678;REN64679;REN64680;REN64681;REN64682;REN64683;REN64684;REN64685;REN64686;REN64687;REN64688;REN64689;REN64690;REN64691;REN64692;REN64693;REN64694;REN64695;REN64696;REN64697;REN64698;REN64699;REN64700;REN64701;REN64702;REN64703;REN64704;REN64705;REN64706;REN64707;REN64708;REN64709;REN64710;REN64711;REN64712;REN64713;REN64714;REN64715;REN64716;REN64717;REN64718;REN64719;REN64720;REN64721;REN64722;REN64723;REN64724;REN64725;REN64726;REN64727;REN64728;REN64729;REN64730;REN64731;REN64732;REN64733;REN64734;REN64735;REN64736;REN64737;REN64738;REN64739;REN64740;REN64741;REN64742;REN64743;REN64744;REN64745;REN64746;REN64747;REN64748;REN64749;REN64750;REN64751;REN64752;REN64753;REN64754;REN64755;REN64897;REN64898;RH104025;stSG598380;stSG598409;stSG598412;stSG598413;stSG598414;stSG598415;stSG598416;stSG598417;stSG598418;stSG598419;stSG598420;stSG598421;stSG598422;stSG598423;stSG598424;stSG598425;stSG598426;stSG598427;stSG598428;stSG598429;stSG598430;stSG598431;stSG598432;stSG598433;stSG598434;stSG598435;stSG598436;stSG598437;stSG598438 ST7AS2;ST7OT2 APPROVED miscrna ENSG00000226367 16044 VALIDATED 1606986 ST7-OT3 ST7 overlapping transcript 3 (non-protein coding) 7 7 7 q31.3 111631219 111667313 + 116822735 116849991 + 116822735 116849991 + 12213198;10889047;10889044;16110330 93655 AACC02000001;ABBA01057802;AC002542;AF400044;AMYH01017885;CH236947;NR_002332 Hs.368131 1711760;1799120;1799484;1800238;1800728;1801060;1801756;1801902;1803750;1804998;1805000;1805042;1808084;1808150;1808858;1809294;1809296;1809380;1810100;1813716;1815458;1817132;1818560;1820256;1820648;1822284;1822432;1823314;1823998;1825972;1826660;1827114;1827288;1832196;1833940;1835840;1840138;1843878;1858626;1986864;1986866;1986868;1986870;1986872;1986874;1986876;1986878;1986880;1986882;1986884;1986886;1986888;1986892;1986894;1986896;1986898;1986900;1986902;1986904;1986906;1986908;1986910;1986912;1986914;1986916;1986918;1986920;1986922;1986924;1986926;1986928;1986930;1986932;1986934;1986936;1986938;1986940;1986942;1986944;1986946;1986948;1986950;1986952;1986954;1986956;1986958;1986960;1986962;1986964;1986966;1986968;1986970;1986972;1986974;1986976;1986978;1986980;1986982;1986984;1986986;1986988;1986990;1986992;1986994;1986996;1986998;1987000;1987002;1987004;1987006;1987008;1987010;1987012;1987014;1987016;1987018;1987020;1987022;1987024;1987026;1987028;1987030;1987032;1987034;1987036;1987038;1987040;1987042;1987044;1987046;1987048;1987050;1987052;1987054;1987056;1987058;1987060;1987062;1987064;1987066;1987068;1987070;1987072;1987074;1987076;1987078;1987080;1987082;1987084;1987086;1987088;1987090;1987092;1987094;1987096;1987098;1987100;1987102;1987104;1987106;1987108;1987110;1987112;1987114;1987116;1987118;1987120;1987122;1987124;1987126;1987128;1987130;1987132;1987134;1987136;1987138;1987140;1987142;1987144;1987146;1987148;1987150;1987152;1987154;1987156;1987158;1987160;1987162;1987164;1987166;1987168;1987170;1987172;1987174;1987176;1987178;2094176;2094178;2094180;2094182;2094184;2094186;2094188;2094190;2094192;2094194;2094196;2094198;2094200;2094202;2094204;2094206;2094208;2094210;2094212;2094214;2094216;2094218;2094220;2094222;2094224;2094226;2094228;2094230;2094232;2094234;2094236;2118135;2149634;2165494;5491663 D7S2097E;ECD00406;ECD00593;ECD00977;ECD01225;ECD01398;ECD01758;ECD01832;ECD02782;ECD03439;ECD03440;ECD03462;ECD05020;ECD05056;ECD05412;ECD05637;ECD05638;ECD05682;ECD06042;ECD07881;ECD08765;ECD09616;ECD10342;ECD11202;ECD11399;ECD12228;ECD12304;ECD12746;ECD13095;ECD14095;ECD14444;ECD14672;ECD14759;ECD17236;ECD18116;ECD19081;ECD21253;ECD23150;ECD24514;G49391;GDB:1317662;MARC_6367-6368:997299589:1;REN64334;REN64335;REN64336;REN64337;REN64338;REN64339;REN64340;REN64341;REN64342;REN64343;REN64344;REN64345;REN64346;REN64348;REN64349;REN64350;REN64351;REN64352;REN64353;REN64354;REN64355;REN64356;REN64357;REN64358;REN64359;REN64360;REN64361;REN64362;REN64363;REN64364;REN64365;REN64366;REN64367;REN64368;REN64369;REN64370;REN64371;REN64372;REN64373;REN64374;REN64375;REN64376;REN64377;REN64378;REN64379;REN64380;REN64381;REN64382;REN64383;REN64384;REN64385;REN64386;REN64387;REN64388;REN64389;REN64390;REN64391;REN64392;REN64393;REN64394;REN64395;REN64396;REN64397;REN64398;REN64399;REN64400;REN64401;REN64402;REN64403;REN64404;REN64405;REN64406;REN64407;REN64408;REN64409;REN64410;REN64411;REN64412;REN64413;REN64414;REN64415;REN64416;REN64417;REN64418;REN64419;REN64420;REN64421;REN64422;REN64423;REN64424;REN64425;REN64426;REN64427;REN64428;REN64429;REN64430;REN64431;REN64432;REN64433;REN64434;REN64435;REN64436;REN64437;REN64438;REN64439;REN64440;REN64441;REN64442;REN64443;REN64444;REN64445;REN64446;REN64447;REN64448;REN64449;REN64450;REN64451;REN64452;REN64453;REN64454;REN64455;REN64456;REN64457;REN64458;REN64459;REN64460;REN64461;REN64462;REN64463;REN64464;REN64465;REN64466;REN64467;REN64468;REN64469;REN64470;REN64471;REN64472;REN64473;REN64474;REN64475;REN64476;REN64477;REN64478;REN64479;REN64480;REN64481;REN64482;REN64483;REN64484;REN64485;REN64486;REN64487;REN64488;REN64489;REN64490;REN64491;RH36056;stSG598465;stSG598466;stSG598467;stSG598468;stSG598469;stSG598470;stSG598471;stSG598472;stSG598473;stSG598474;stSG598475;stSG598476;stSG598477;stSG598478;stSG598479;stSG598480;stSG598481;stSG598482;stSG598483;stSG598484;stSG598485;stSG598486;stSG598487;stSG598488;stSG598489;stSG598490;stSG598491;stSG598492;stSG598493;stSG598494;stSG598495 NCRNA00026;ST7;ST7OT3 APPROVED miscrna 16045 PROVISIONAL 1343813 ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008] 17 17 17 q25.1 71153785 71174495 - 72073056 72093524 - 74561461 74582145 - 6480464 19357720;19170967;17480010;17418236;15489334;15231748;14702039;12477932;10742600;8125298;23548905 10610 K7EIW2;K7EKT8;K7EMI2;K7EMM1;Q9UJ37 ABBA01028736;ABBA01028737;ABBA01028738;AC015802;AJ251053;AK127567;AK225943;AMYH01008645;AMYH01008646;AMYH01008647;BC038114;BC040455;BC044607;BT019972;CH471099;NM_006456;U14550 AAA52228;AAH40455;AAV38775;CAB61434;EAW89416;EAW89417;EAW89418;NP_006447;Q9UJ37 Hs.592105 1690424;1736650;1744361;2182251;5014023;5014051;5015404;5015619;5015861;5015961;5016478;5016700;5020946;5024756;5037552;7185938 D10S16;D11S3114;D13S1553;D15S1477;D17S1487E;D17S1998;D8S2278;D8S2279;GDB:434012;GDB:451818;L17705;L17971;RH79802;RH80030;RH98937 FLJ45660;SAITL1;SIAT7;SIAT7B;SIATL1;ST6GalNAII;STHM (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B;(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase;SIAT7-B;ST6GalNAc II;ST6GalNAcII;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2;galNAc alpha-2,6-sialyltransferase II;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B;sialyltransferase 7B;sialyltransferase-like 1 APPROVED protein-coding ENSG00000070731 10867 10231 610137 VALIDATED 1345799 ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008] 1 1 1 p31.1 74780500 75336477 + 76312992 76869220 + 76540389 77096669 + 6480464;6907045 18519826;17123352;16344560;16169874;15843597;14702039;12975309;12477932;10207017;17207965;19684603;20379614;20421487 256435 Q8NDV1 ABBA01074409;ABBA01074410;ABBA01074411;ABBA01074412;ABBA01074413;AC092813;AC098655;AC103592;AC104458;AJ507291;AK023731;AK091215;AK130749;AK297363;AL596217;AMYH01000717;AMYH01000718;AY358540;BC039520;BC059363;BX648274;CH471059;DA800675;DB473741;NM_001160011;NM_152996 AAH59363;AAQ88904;ADQ32981;BAC03611;BAG59810;CAD45371;EAX06388;EAX06389;NP_001153483;NP_694541;Q8NDV1 Hs.337040;Hs.677241;Hs.679096 1670278;1670468;1700330;1715481;1739271;1749485;1754679;1757235;1761733;1764713;1781392;1781462;1781758;1781764;2106607;2110849;2134648;2142815;2166367;2174920;2175160;2180055;2186812 AL009657;AL009701;D1S116;D1S1573;D1S3019;D2S1931E;RH103785;RH120983;RH64528;SHGC-106925;SHGC-111202;SHGC-112145;SHGC-133035;SHGC-144656;SHGC-145707;SHGC-148305;SHGC-155495;SHGC-155511;SHGC-75024;SHGC-75027;SHGC-75038;SIAT7C__5410;WI-18271 FLJ13669;FLJ27239;PRO7177;SIAT7C;ST6GALNACIII;STY GalNAc alpha-2,6-sialyltransferase III;OTTHUMP00000011189;SIAT7-C;ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltran;ST6GALNAC III;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C;sialyltransferase 7C APPROVED protein-coding 19343 15341 610133 VALIDATED 1349426 ST8 suppression of tumorigenicity 8 (ovarian) 7240710 1394208 6765 11352 167000 1354318 ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008] 9 9 9 q34.11 101298831 101313105 - 129687422 129701692 - 130647601 130661871 - 6480464;6907045 10702226;17123352;16713569;15843597;14702039;12975309;12668675;12477932 30815 B4DU80;Q969X2 AB035173;ABBA01043851;ABBA01043852;AJ507293;AK023900;AK025959;AK057100;AK226174;AK300534;AK310850;AL157935;AMYH01021736;AY358672;BC006564;BC007802;BC016299;BC036102;CH471090;CR457318;FB715174;NM_013443 AAH06564;AAH07802;AAH16299;AAQ89035;ADZ15865;BAA87035;BAB14715;BAG51863;BAG62242;CAD45373;CAG33599;CAS91687;EAW87710;EAW87711;EAW87712;EAW87713;EAW87714;EAW87715;NP_038471;Q969X2 Hs.109672 2161548 RH41869 RP11-203J24.3;SIAT7F;ST6GALNACVI CMP-NeuAC:(beta)-N-acetylgalactosaminide (alpha)2,6-sialyltransferase member VI;OTTHUMP00000022210;OTTHUMP00000022211;OTTHUMP00000022212;OTTHUMP00000022213;SIAT7-F;ST6GalNAc VI;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6;galNAc alpha-2,6-sialyltransferase VI;hST6GalNAc VI;sialyltransferase 7F;sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F APPROVED protein-coding ENSG00000160408 23364 18111 610135 PROVISIONAL 1352256 ST6GALNAC5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ST6GALNAC5 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008] 1 1 1 p31.1 75572629 75769169 + 77105774 77302325 + 77333186 77529737 + 6480464;6907045 15843597;15489334;14702039;12668675;12477932;10601645;10521438;20379614 81849 F2Z2C8;Q9BVH7 ABBA01074403;ABBA01074404;ABBA01074405;ABBA01074406;ABBA01074407;ABBA01074408;AC096951;AC099060;AJ507292;AK056241;AK095758;AK295019;AK300902;AL035409;AL954680;AMYH01000718;BC001201;BX284687;CH471059;FB715172;NM_030965 AAH01201;BAB71127;BAG53123;BAG58078;BAG62539;CAD45372;CAS91686;EAX06386;NP_112227;Q9BVH7 Hs.303609 1341465;1658612;1661832;1692440;1693088;1735062;1754497;1762427;1936202;1992316;2137711;2146434;2165500;2167642;2174545;2181078 AFM312vg5;AL009571;AL009727;AL033869;AL034274;D1S1823E;D1S2202;D1S532;REN38938;REN67065;RH64634;RH64660;SHGC-132770;SHGC-146255;SHGC-75035;SHGC-75039 MGC3184;SIAT7E;ST6GalNAcV GD1 alpha synthase;GalNAc alpha-2,6-sialyltransferase V;OTTHUMP00000011258;OTTHUMP00000195588;SIAT7-E;ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5;ST6GalNAc V;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5;alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V;alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E;sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E;sialyltransferase 7 (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E;sialyltransferase 7E APPROVED protein-coding 19342 15342 610134 PROVISIONAL 1343912 ST7 suppression of tumorigenicity 7 The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008] 7 7 q31.2 116380617 116657313 + 116593381 116870077 + 1580863;6480464 19058789;16683024;14702039;14669308;14534688;12853948;12809483;12690205;12545169;12477932;12231539;12213198;10889047;10889044;8938430;8105370;7991599;7987830;7624150;12107844;11279520;20238225;19913121;20628086;19736351;20379614;21139048;21890473;22872573 7982 B7Z4L1;B7Z4U3;C9J2Z1;C9JCI7;C9JRQ0;C9JRW1;C9JU30;C9JWK8;C9JX79;C9JZV9;E7EMS3;E7ENZ9;E7EPD9;E7EPW5;E9PCV1;E9PF01;G3XAH9;H7BXS2;Q9BWX3 AACC02000001;ABBA01057801;ABBA01057802;ABBA01057803;ABBA01057804;AC002542;AC003987;AC106873;AF234882;AF234883;AF234886;AF415174;AJ277291;AK093212;AK292372;AK297510;AK297861;AK298540;AMYH01017885;AY009152;AY009153;BC030954;BC075855;CH236947;CH471070;CR936656;NM_018412;NM_021908 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EN65142;REN65143;REN65144;REN65145;REN65146;REN65147;REN65148;REN65149;REN65150;REN65151;REN65152;REN65153;REN65154;REN65155;REN65156;REN65157;REN65158;REN65159;REN65160;REN65161;REN65162;REN65163;REN65164;REN65165;REN65166;REN65167;REN65168;REN65169;REN65170;REN65171;REN65172;REN65173;REN65174;REN65175;REN65176;REN65177;REN65178;REN65179;REN65180;REN65181;REN65182;REN65183;REN65184;REN65185;REN65186;REN65187;REN65188;REN65189;REN65190;REN65191;REN65192;REN65193;REN65194;REN65195;REN65196;REN65197;REN65198;REN65199;REN65200;REN65201;REN65202;REN65203;REN65204;REN65205;REN65206;REN65207;REN65208;REN65209;REN65210;REN65211;REN65212;REN65213;REN65214;REN65215;REN65216;REN65217;REN65218;REN65219;REN65220;REN65221;REN65222;REN65223;REN65224;REN65225;REN65226;REN65227;REN65228;REN65229;REN65230;REN65231;REN65232;REN65233;REN65234;REN65235;REN65236;REN65237;REN65238;REN65239;REN65240;REN65241;REN65242;REN65243;REN65244;REN65245;REN65246;REN65248;REN65250;REN65251;REN65252;REN65253;REN65254;REN65255;REN65256;REN65257;REN65258;REN65259;REN65260;REN65261;REN65262;REN65263;REN65264;REN65265;REN65266;REN65267;REN65268;REN65269;REN65270;REN65271;REN65272;REN65273;REN65274;REN65275;REN65276;REN65277;REN65278;REN65279;REN65280;REN65281;REN65282;REN65283;REN65284;REN65285;REN65286;REN65287;REN65288;REN65289;REN65290;REN65291;REN65292;REN65293;REN65294;REN65295;REN65296;REN65297;REN65298;REN65299;REN65300;REN65301;REN65302;REN65303;REN65304;REN65305;REN65306;REN65307;REN65308;REN65309;REN65310;REN65311;REN65312;REN65313;REN65314;REN65315;REN65316;REN65317;REN65318;RH104025;RH36056;RH45028;RH80348;RH92494;SHGC-68730;STS-D20826;stSG598300;stSG598301;stSG598302;stSG598303;stSG598304;stSG598305;stSG598306;stSG598310;stSG598311;stSG598312;stSG598313;stSG598314;stSG598315;stSG598316;stSG598317;stSG598318;stSG598320;stSG598321;stSG598322;stSG598323;stSG598325;stSG598326;stSG598327;stSG598328;stSG598329;stSG598330;stSG598331;stSG598332;stSG598334;stSG598335;stSG598336;stSG598337;stSG598338;stSG598339;stSG598340;stSG598341;stSG598342;stSG598343;stSG598344;stSG598346;stSG598347;stSG598348;stSG598349;stSG598350;stSG598352;stSG598353;stSG598354;stSG598355;stSG598356;stSG598357;stSG598359;stSG598360;stSG598361;stSG598362;stSG598363;stSG598364;stSG598365;stSG598366;stSG598367;stSG598368;stSG598369;stSG598370;stSG598371;stSG598372;stSG598373;stSG598374;stSG598375;stSG598376;stSG598377;stSG598379;stSG598381;stSG598383;stSG598384;stSG598385;stSG598386;stSG598387;stSG598388;stSG598389;stSG598390;stSG598391;stSG598392;stSG598393;stSG598394;stSG598395;stSG598396;stSG598397;stSG598398;stSG598399;stSG598400;stSG598402;stSG598403;stSG598404;stSG598405;stSG598406;stSG598407;stSG598408;stSG598409;stSG598412;stSG598413;stSG598414;stSG598415;stSG598416;stSG598417;stSG598418;stSG598419;stSG598420;stSG598421;stSG598422;stSG598423;stSG598424;stSG598425;stSG598426;stSG598427;stSG598428;stSG598429;stSG598430;stSG598431;stSG598432;stSG598433;stSG598434;stSG598435;stSG598436;stSG598437;stSG598438;stSG598440;stSG598441;stSG598442;stSG598444;stSG598445;stSG598446;stSG598447;stSG598448;stSG598449;stSG598450;stSG598451;stSG598452;stSG598453;stSG598454;stSG598455;stSG598456;stSG598457;stSG598458;stSG598459;stSG598460;stSG598461;stSG598462;stSG598464;stSG598496;stSG598497;stSG598498;stSG598499;stSG598500;stSG598501;stSG598502;stSG598503 DKFZp762O2113;ETS7q;FAM4A;FAM4A1;HELG;RAY1;SEN4;TSG7 OTTHUMP00000025506;OTTHUMP00000068957;OTTHUMP00000068958;OTTHUMP00000068959;OTTHUMP00000068960;OTTHUMP00000068961;OTTHUMP00000068963;OTTHUMP00000068964;OTTHUMP00000198300;OTTHUMP00000198301;OTTHUMP00000206921;OTTHUMP00000212190;family with sequence similarity 4, subfamily A, member 1;suppression of tumorigenicity 7 (breast);suppressor of tumorigenicity 7 protein APPROVED protein-coding ENSG00000004866 11351 09015 600833 REVIEWED 1350452 ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 9 q34 101321386 101330529 - 129709986 129719126 - 130670165 130679305 - 6480464;6907045 10207017;18598683;17081983;15528990;15489334;14702039;12594047;12477932;12459555;11062056;10369878;8681137;16712791;18029348 27090 A6NJX0;A8K7N4;Q9H4F1 AB035172;ABBA01043853;ABBA01043854;ABBA01043855;AF162789;AJ271734;AK000600;AK292049;AL157935;AMYH01021737;BC036705;CB126299;CH471090;F27902;FB715170;NM_175039;NM_175040;Y17460;Y17461 AAF32237;AAH36705;BAA87034;BAA91281;BAF84738;CAB44353;CAB44354;CAC07404;CAS91685;EAW87717;EAW87718;EAW87719;EAW87720;EAW87721;NP_778204;NP_778205;Q9H4F1 Hs.3972 1653742;1770680;2117193;2127451 RH12804;RH41851;RH45227;WI-18218 IV;SIAT3-C;SIAT3C;SIAT7-D;SIAT7D;ST6GALNACIV;ST6GalNAc NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase;NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase IV;OTTHUMP00000022223;OTTHUMP00000197015;SIAT3-C;SIAT7-D;ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminidealpha-2,6-sialyltransferase 4;ST6GalNAc IV;alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase;sialyltransferase 3C;sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) APPROVED protein-coding ENSG00000136840 17846 05902 606378 REVIEWED 1346581 ST7-OT4 ST7 overlapping transcript 4 7 7 7 q31.2 111401694 111407575 + 116381189 116387105 + 116593953 116599867 + 12477932;12213198 338069 A8MTU0;A8MVT0;M0QZ25 AACC02000001;ABBA01057804;AC106873;AMYH01017885;BC043268;CH236947;NR_002329 Hs.662742 1690246;1788256;1806572;1814666;1818558;1820254;1820522;1829280;1829526;1839140;1840996;1842702;1988764;1988766;1988768;1988770;1988772;1988774;1988776;1988778;1988780;1988782;1988784;1988786;1988788;1988790;1988792;1988794;1988796;1988798;1988800;1988802;1988804;1988806;1988808;1988810;1988812;1988814;1988816;1988818;1988820;1988822;1988824;2093868;2093870;2093872;2093874 D7S3112;ECD04243;ECD08363;ECD10341;ECD11201;ECD11336;ECD15769;ECD15894;ECD20749;ECD21691;ECD22558;REN65286;REN65287;REN65288;REN65289;REN65290;REN65291;REN65292;REN65293;REN65294;REN65295;REN65296;REN65297;REN65298;REN65299;REN65300;REN65301;REN65302;REN65303;REN65304;REN65305;REN65306;REN65307;REN65308;REN65309;REN65310;REN65311;REN65312;REN65313;REN65314;REN65315;REN65316;RH92494;stSG598296;stSG598297;stSG598298;stSG598299 NCRNA00042;ST7OT4 APPROVED miscrna 18835 PROVISIONAL 1342887 ST7L suppression of tumorigenicity 7 like This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011] 1 1 1 p13.2 111296667 111392566 - 112867663 112963563 - 113066140 113162040 - 1580863;6480464 14702039;12477932;12063568;12012006;8125298;21572416;23142218 54879 B7Z7D4;B7Z8V6;F5H2P3;H0Y7M0;Q5TEH7;Q8N7P8 AB081317;AB081318;AB081319;AB081320;ABBA01068409;ABBA01068410;ABBA01068411;ABBA01068412;ABBA01068413;AK000291;AK021719;AK095837;AK097837;AK225307;AK291042;AK295507;AK295955;AK301869;AK304004;AK308727;AL109932;AL929470;AMYH01000949;BC027898;BC037830;BC047392;BC065501;BX537988;BX538338;BX640667;CD358134;CH471122;NM_017744;NM_138727;NM_138728;NM_138729 AAH37830;AAH47392;AAH65501;ACE86576;ACE87259;BAA91060;BAB88871;BAB88872;BAB88873;BAB88874;BAC05180;BAF83731;BAG53142;BAH12090;BAH12228;BAH13570;BAH14092;CAD97948;CAD98103;CAE45803;EAW56520;EAW56521;EAW56522;EAW56523;EAW56524;NP_060214;NP_620055;NP_620056;NP_620057;Q8TDW4 Hs.201921 1335693;1662710;1682467;1767705;1798226;7186593 D1S487;RH92806;SHGC-75325;SHGC-75333;ST7L_2128 FAM4B;FLJ11657;FLJ20284;ST7R;STLR OTTHUMP00000013490;OTTHUMP00000013491;OTTHUMP00000013492;OTTHUMP00000013493;OTTHUMP00000013494;OTTHUMP00000013495;OTTHUMP00000013496;OTTHUMP00000013497;ST7-related protein;suppressor of tumorigenicity 7 protein-like;tumor suppressor ST7 like APPROVED protein-coding ENSG00000007341 18441 18112 REVIEWED 1603707 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008] 12 12 p12.1-p11.2 22245200 22378915 - 22346325 22487648 - 6480464;6907045 8195250;19428123;19335207;19280063;18690648;18612409;18348864;18261989;17913261;16862187;16481330;16120058;15489334;15319364;15196944;15175338;12818424;12477932;11849746;10766765;9287216;8889548;8786103;8631981;8058740;7937974;7901202;19125296;19956670;20379614;20708005;20889649;22885356 6489 F8WCS8;G3V1U7;H0YFU1;H0YG41;H0YGV9;Q86X71;Q92185 ABBA01067982;ABBA01067983;AC007544;AC007671;AC087318;AF088002;AK290941;AK297310;AK315340;AMYH01004321;AY569975;BC031081;BC046158;BC117285;BC126162;BM929838;CH471094;D26360;EU041716;FB715190;L32867;L43494;NM_003034;X77922 AAA62366;AAC37586;AAH46158;AAI17286;AAI26163;AAS75783;ABU62753;ADR82955;BAA05391;BAF83630;BAG37739;BAG59776;CAA54891;CAS91695;EAW96468;EAW96469;EAW96470;EAW96471;NP_003025;Q92185 Hs.408614 1339489;1339861;1723425;1725919;1725921;1725961;1754061;1759771;1766995;1852857;2128607;2134737;2162070;5014740;5015861;7185938 D10S16;D12S1688;D12S799;D17S610;G62291;G62294;G62408;RH118528;RH69610;SHGC-12597;SHGC-132098;SHGC-151275;SHGC-152564;STS-X77922;UniSTS:36840 GD3S;SIAT8;SIAT8-A;SIAT8A;ST8SiaI OTTHUMP00000240085;OTTHUMP00000240087;OTTHUMP00000240089;SIAT8-A;alpha-2,8-sialyltransferase 8A;alpha-N-acetylneuraminide alpha-2,8-sialyltransferase;disialoganglioside (GD3) synthase;ganglioside GD3 synthase;ganglioside GT3 synthase;ganglioside-specific alpha-2,8-polysialyltransferase;sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A;sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase);sialyltransferase St8Sia I;sialytransferase St8Sia I APPROVED protein-coding 10869 03078 601123 REVIEWED 1351358 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008] 15 15 q26 90738144 90812962 + 92937140 93011958 + 6480464 10766765;7559389;9054414;19336400;17126533;16229822;15710344;15489334;12975309;12477932;12138100;11744634;9852130;8702635;8027041;7588599;15466855;22837378;20386566;20663923;21464126;21555518;22281821;23643386;22693595 8128 B2R9U8;C6G488;G3V2T1;Q92186 ABBA01053091;AC090985;AC116162;AK313924;AMYH01006930;AW163487;AY358091;BC069584;BC096202;BC096203;BC096204;BC096205;BX537981;CH471101;FB715192;FJ515842;L29556;NM_006011;U33551;U82762 AAA36613;AAB51242;AAC24458;AAH69584;AAH96202;AAH96203;AAH96204;AAH96205;AAQ88458;ACS13735;ACS13736;BAG36645;CAS91696;EAX02149;NP_006002;Q92186 Hs.302341 1659535;1715455;1725163;2116688;2117191;2122700;2133553;2174139;2174378 A008W12;FB24D6;G30955;RH118884;RH120892;RH15709;RH47406;STS-L29556;WI-15667 HsT19690;MGC116854;MGC116857;SIAT8B;ST8SIA-II;STX OTTHUMP00000194774;OTTHUMP00000246735;OTTHUMP00000246736;SIAT8-B;ST8SiaII;alpha-2,8-sialyltransferase 8B;alpha-2,8-sialyltransferase 8B 1;sialyltransferase 8 (alpha-2, 8-sialytransferase) B;sialyltransferase 8B;sialyltransferase St8Sia II;sialyltransferase X;sialytransferase St8Sia II APPROVED protein-coding ENSG00000140557 10870 03969 602546 REVIEWED 1606293 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008] 18 18 18 q21.31 51736805 51753237 + 53170719 53187160 + 55019721 55036162 + 6480464 10766765;9073076;16643848;15489334;14702039;12477932;9826427;20800603 51046 K7EQB3;O43173;Q59GW3 AB208996;ABBA01056129;AC090208;AF003092;AF004668;AK054939;AK123291;AK289517;AK313047;AMYH01009021;BC074909;CH471096;NM_015879 AAB87642;AAC15901;AAH74909;BAD92233;BAF82206;BAG35879;EAW63043;NP_056963;O43173 Hs.23172 1669898;1768102;2106609;2158871;2173053 D18S1245;D18S916E;RH12286;RH47620;SIAT8C__5411 SIAT8C;ST8SiaIII SIAT8-C;alpha-2,8-sialyltransferase 8C;alpha-2,8-sialyltransferase III;sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase;sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase);sialyltransferase St8Sia III;sialytransferase St8Sia III APPROVED protein-coding ENSG00000177511 14269 15343 609478 VALIDATED 1605541 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 Sialic acid is a key determinate of oligosaccharide structures involved in cell-cell communication, cell-substrate interaction, adhesion, and protein targeting. ST8SIA6 belongs to a family of sialyltransferases (EC 2.4.99.8) that synthesize sialylglycoconjugates (Takashima et al., 2002 [PubMed 11980897]).[supplied by OMIM, Mar 2008] 10 10 10 p12.33 17295946 17429480 - 17402682 17536260 - 17362676 17496254 - 6480464 16857734;15843597;15164054;11980897;12477932;19176441;21906983 338596 H0Y405;P61647 AB062101;ABBA01034558;AJ621583;AL158164;AL160289;AMYH01002065;AMYH01002066;AMYH01002067;BC137102;BC137103;BC144472;BX951710;EF445032;FB715200;JA738635;NM_001004470 AAI37103;AAI37104;ACA06074;ACA06075;BAE94653;CAF21722;CAS91700;CCF76970;NP_001004470;P61647 Hs.677766 1674067;1683655;1690276;1712723;1723265;1730024;2106611 D4S136;RH121058;RH122321;RH91938;RH94156;SIAT8F__5413;STS-H99861 SIA8F;SIAT8F;ST8SIA-VI OTTHUMP00000019235;SIAT8-F;ST8SiaVI;alpha-2,8-sialyltransferase 8F;alpha-2,8-sialyltransferase 8F variant 2;alpha-2,8-sialyltransferase 8F variant 3;sialyltransferase 8F (alpha-2, 8-sialyltransferase);sialyltransferase St8Sia VI;sialytransferase St8Sia VI APPROVED protein-coding 23317 15344 610139 VALIDATED 1349105 STAB2 stabilin 2 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008] 12 12 q23.3 102505199 102684632 + 103981069 104160502 + 1580863;6480464 11829752;12077138;18573870;18539600;22566688;18519035;18499864;18434317;18387958;18230608;17962816;17145755;15572036;15208308;14702039;12751488;12626425;12473645;14701874;20466649;18029348;21029358;19359419;20379614;23530033;22052472;21810271;21878436;23382691 55576 H0YHA5;H0YIF3;Q8WWQ8 AB052958;ABBA01053213;ABBA01053214;ABBA01053215;ABBA01053216;AC025265;AC084364;AF160476;AJ295695;AK024503;AK074051;AK160380;AL133021;AMYH01004707;AY227444;AY311388;CH471054;NM_017564 AAF82398;AAI72224;AAO39681;AAP74958;BAB15793;BAB84877;BAC15608;BAD18723;CAB61358;CAC82105;EAW97711;EAW97712;EAW97713;EAW97714;NP_060034;Q8WWQ8 Hs.408249 1335370;1643746;1649958;1668429;1746879;1746881;1760221;2125969;2138688;2140721;2165941;2177229;7187878 A007D24;D12S1540;D12S360;D12S865;G64835;G64836;RH17577;RH44575;SHGC-132509;SHGC-33885;WI-17162;WI-17715 DKFZp434E0321;FEEL-2;FEEL2;FELE-2;FELL;FELL-2;FELL2;FEX2;HARE;STAB-2 CD44-like precursor FELL;FAS1 EGF-like and X-link domain containing adhesion molecule-2;OTTHUMP00000242730;fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2;hepatic hyaluronan clearance receptor;hyaluronan receptor for endocytosis;hyaluronic acid receptor for endocytosis;stabilin-2 APPROVED protein-coding ENSG00000136011 18629 10542 608561 REVIEWED 1603321 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 5 5 q21 100170803 100266869 - 100142639 100238987 - 6480464 10766765;9054414;19336400;18384787;17176637;16344560;16229822;16027151;15710344;15489334;12477932;12227654;12138100;11744634;11279095;10660622;9852130;9774483;7854457;7624364;19913121;20628086;19725832;19578876;20379614;17207965;22184126 7903 E5RFK3;Q92187 AA836260;ABBA01069169;ABBA01069170;AC010411;AC117530;AK292872;AMYH01015505;AMYH01015506;BC027866;BC040671;BC053657;BI858673;BM921020;CH471086;CS565550;DA862968;FB715196;L41680;NM_005668;NM_175052 AAC41775;AAH27866;AAH53657;ADQ33222;BAF85561;CAN37586;CAS91698;EAW49104;EAW49105;NP_005659;NP_778222;Q92187 Hs.308628 1675975;1690051;1694496;1699544;1751183;1858072;2108475;2139976;5015404;5015879;5016478;5017714;5020740 G42987;GDB:314949;GDB:434012;L17705;L17809;RH103370;RH78921;RH80262;RH92839;SHGC-105043;SIAT8D_8769;ST8SIA4;STS-L41680 MGC34450;MGC61459;PST;PST1;SIAT8D;ST8SIA-IV CMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferase;CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase;OTTHUMP00000158915;OTTHUMP00000227000;SIAT8-D;ST8SiaIV;alpha-2,8-sialyltransferase 8D;polysialyltransferase-1;sialyltransferase 8 (alpha-2, 8-polysialytransferase) D;sialyltransferase 8D;sialyltransferase St8Sia IV;sialytransferase St8Sia IV APPROVED protein-coding ENSG00000113532 10871 03970 602547 REVIEWED 7204900 ST8SIA6-AS1 ST8SIA6 antisense RNA 1 10 p12.33 17428935 17450285 + 12477932 100128098 ABBA01034558;AK127982;AL158164;AMYH01002067;AW449205;BC029655;BC054478;NR_034129 BAC87216 Hs.530588 1690276;5037552 D8S2279;RH94156 miscrna ENSG00000204832 44880 VALIDATED 1349184 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 41066687 41144720 - 42513079 42591037 - 44259081 44337039 - 6480464;6907045 9199191;14702039;12477932;9129712;20930939 29906 B3KSU2;B7Z1K9;F5H8D1;K7EN49;K7ER54;O15466 ABBA01022317;AC064800;AC090311;AK056270;AK094273;AK130126;AK293608;AK298881;AK310764;AMYH01008974;BC108910;BC108911;BX105571;CH471088;CR457037;FB715198;NM_013305;U55966;U91641 AAC51727;AAI08911;AAI08912;BAG51661;BAG52854;BAH11545;BAH12893;CAG33318;CAS91699;EAX01482;EAX01483;NP_037437;O15466 Hs.465025 1758711;2107575;5123747 SHGC-149230;SIAT8E__6834;WI-13748 MGC119670;MGC119671;SIAT8E;ST8SiaV OTTHUMP00000163479;SIAT8-E;alpha-2,8-sialyltransferase 8E;sialyltransferase 8E (alpha-2, 8-polysialytransferase);sialyltransferase St8Sia V;sialytransferase St8Sia V APPROVED protein-coding ENSG00000101638 17827 06199 607162 REVIEWED 1319045 STAC3 SH3 and cysteine rich domain 3 12 12 12 q13.3 57291469 57299250 - 55923509 55931236 - 57637242 57644969 - 737633;1580863;6480464 12477932 16189514;15489334;14702039 246329 B4DUK9;G3V2L9;G3V5D4;Q96MF2 ABBA01026707;AC137834;AK057013;AK300688;AK311513;AMYH01004513;BC008069;CH471054;NM_145064 AAH08069;BAB71343;BAG62371;EAW97004;EAW97005;EAW97006;EAW97007;NP_659501;Q96MF2 Hs.417595 2154072;2219724 RH65724;STAC3__5330 MGC2793 OTTHUMP00000245704;OTTHUMP00000245705;OTTHUMP00000245707;SH3 and cysteine-rich domain-containing protein 3 protein-coding ENSG00000185482 28423 11606 PROVISIONAL 1321166 STAB1 stabilin 1 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] 3 3 p21.1 52504396 52533551 + 52529356 52558511 + 6480464 12077138;18029348;19367581;18292525;17006978;16670288;16357325;15572036;15345724;15345716;15297319;14702039;12616502;12473645;12168954;11829752;10737800;9039502;19457577;20599701;20953554;20935629;12477932;19726632;19752197;21368224;21308731;21480214;21483103;21926972 23166 H7C4W7;Q9NY15 AB052956;AB052957;ABBA01024506;ABBA01024507;AC006208;AC112215;AJ275213;AK091600;AK093774;AK097061;AK310105;AMYH01013185;BC150250;BE242606;BI001474;CH471055;D87433;DQ786774;NM_015136 AAI50251;ABG91068;BAA13377;BAC15606;BAC15607;BAG52762;CAB61827;EAW65232;EAW65233;EAW65234;NP_055951;Q9NY15 Hs.301989 2115434 SHGC-76998 CLEVER-1;FEEL-1;FELE-1;FEX1;KIAA0246;STAB-1 MS-1 antigen;OTTHUMP00000213113;common lymphatic endothelial and vascular endothelial receptor-1;fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1;fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1;stabilin-1 APPROVED protein-coding ENSG00000010327 18628 09778 608560 REVIEWED 1313960 STAC SH3 and cysteine rich domain 3 3 3 p22.3 36365008 36532250 + 36397101 36564500 + 36422097 36589496 + 1580863;6480464 8954993;14702039;12477932;10393425;22704111;21832049;19953087;18654987 6769 C9J3Z9;E9PEA7;F8WB25;Q99469 ABBA01024871;ABBA01024872;ABBA01024873;AC092051;AC098648;AK056893;AK299160;AK302697;AK310425;AK313493;AMYH01013082;AMYH01013083;BC020221;CH471055;D86640;NM_003149 AAH20221;ABM83106;ABM86300;ABM86301;BAA13152;BAG36275;BAG61208;BAG63925;EAW64474;NP_003140;Q99469 Hs.56045 1299934;1659269;1666433;1689614;1718879;1724125;1760385;2135481;7187818 D3S1561;D3S2369;RH119063;RH123145;RH79772;SHGC-142166;SHGC-76814;WI-10459 FLJ32331;STAC1 OTTHUMP00000161362;OTTHUMP00000208659;OTTHUMP00000208661;SH3 and cysteine-rich domain-containing protein;SRC homology 3 and cysteine-rich domain-containing protein;src homology three (SH3) and cysteine rich domain protein-coding ENSG00000144681 11353 11890 602317 PROVISIONAL 737601 STAG3 stromal antigen 3 7 7 7 q22.1 94510888 94547361 + 99613474 99649946 + 99775538 99812010 + 1580863;6480464 10698974;19270026;18788457;18299561;12477932;12034751;20635389;11483963 10734 C9J3T3;C9JTG4;C9JYW5;H0Y4S6;H7BYK9;H7C0H6;Q9UJ98 AACC02000084;ABBA01013228;AC005071;AC073842;AJ007798;AK292394;AK302587;AK302693;AL833816;AMYH01017729;BC028684;BC047490;BC140932;BC146806;BG772730;CH236956;CH471091;NM_012447 AAI40933;AAI46807;BAF85083;BAG63840;BAG63922;CAB59367;CAD38679;EAW76568;EAW76570;NP_036579;Q9UJ98 Hs.592283 1646317;1651249;1662119;1675437;1677504;1786414;1788244;1849341;2119628;2141129;2141131;2147514;2147781;2158274;2172708;2180420;2180422;5091042 A002N20;A004W23;D7S1561;D7S2074E;D7S3104;GDB:1234294;GDB:4585356;GDB:4585375;RH12482;RH47305;RH47646;RH80607;RH92424;SHGC-172008;SHGC-35872;SHGC-5628;STS-AA019655;WI-13802 OTTHUMP00000207376;OTTHUMP00000207395;OTTHUMP00000207396;SCC3 homolog 3;cohesin subunit SA-3;stromalin 3;stromalin-3 protein-coding ENSG00000066923 11356 10253 608489 VALIDATED 1313639 STAC2 SH3 and cysteine rich domain 2 17 17 17 q12 34027691 34042945 - 34620315 34635500 - 37366789 37382040 - 6480464 16713569;15489334;14702039;12477932;16344560 342667 D0IN09;J3QKZ0;Q6ZMT1 ABBA01031880;AC004408;AC015910;AJ608762;AK131500;AM903073;AMYH01008374;BC109231;CH471152;DA292898;NM_198993 AAI09232;BAD18644;CAE75539;CAP17172;EAW60569;EAW60570;NP_945344;Q6ZMT1 Hs.145068 5015861;7185938 D10S16 24b2;24b2/STAC2;MGC129694 OTTHUMP00000164278;SH3 and cysteine-rich domain-containing protein 2;SRC homology 3 and cysteine-rich domain-containing protein 2 protein-coding ENSG00000141750 23990 18113 VALIDATED 1604012 STAG3L1 stromal antigen 3-like 1 (pseudogene) 7 7 q11.23 74826383 74834926 + 74988429 74996914 + 6480464 12477932;9847074;10698974;16344560 54441 P0CL83 AA724158;ABBA01195398;AC006014;AC211486;AK289466;AK291820;AMYH01017552;BC119762;BG829469;DC419304;NR_040583 AAI19763;AAI46457;AAI53080;BAF82155;BAF84509;P0CL83 Hs.632310;Hs.661254;Hs.694664 5015881;5020757;5021324;5037552;5094693;5106203;5109025;7188077;7188079 Bdyc3h07;D7S1490;D7S489;D7S489_B;D7S489_C;D8S2279;GDB:335751 DKFZp434A0131;FLJ78546;MGC131759;MGC40269;STAG3L1P;STAG3L2;STAG3L3 OTTHUMP00000209277;OTTHUMP00000209427;STAG3-like protein;STAG3-like protein 1;stromal antigen 3-like protein 1;stromal antigen 3-like protein 2 APPROVED pseudo ENSG00000205583 33852 13150 VALIDATED 7247301 STAG3L5P stromal antigen 3-like 5 pseudogene 16341674;16344560;16926269 101735302 BM826568;DA306290;NR_103720 Hs.521075 pseudo 48896 VALIDATED 1321827 STAG1 stromal antigen 1 This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008] 3 3 3 q22.3 134481201 134897660 - 137538689 137953935 - 136055999 136471245 - 1580863;6480464;6907045 15855230;9305759;18550811;16344560;15489334;21043528;15361841;12477932;12034751;11590136;11076961;18029348;15231748;16682347;19822671;19936222;20308539;15737063;17112726;17113138;15840729;17349791;17962804;20360068;10931856;19471022;21139048;21890473;22145905 10274 C9JJQ0;F5H1C4;F8WCB3;F8WF82;H7C595;Q68DW7;Q6P275;Q8WVM7 AB210023;ABBA01059111;ABBA01059112;ABBA01059113;ABBA01059114;ABBA01059115;ABBA01059116;ABBA01059117;ABBA01059118;ABBA01059119;ABBA01059120;ABBA01059121;ABBA01059122;ABBA01059123;ABBA01059124;ABBA01059125;ABBA01059126;AC069514;AC069524;AC107425;AC117382;AC128712;AK304381;AK309934;AMYH01013520;AMYH01013521;AMYH01013522;AU132652;BC017735;BC040708;BC064699;CH471052;CR749247;NM_005862;Z75330 AAH17735;AAH64699;BAE06105;BAG65219;CAA99731;CAH18103;EAW79114;EAW79115;NP_005853;Q8WVM7 Hs.412586 1335020;1335230;1336290;1338343;1653994;1655493;1663529;1684497;1699244;1713577;1758829;2116919;2127433;2142095;2146015;2153056;5017745;5093096 A009F46;D1S2717;D3S1549;D3S2453;D3S3528;G08243;G10550;G32517;RH103203;RH120283;RH45689;RH69867;RH94340;SHGC-150766;SHGC-23862;SHGC-54603;SHGC-64944;STAG1 DKFZp781D1416;SA1;SCC3A OTTHUMP00000216529;OTTHUMP00000216539;SCC3 homolog 1;cohesin subunit SA-1;nuclear protein stromal antigen 1 APPROVED protein-coding ENSG00000118007 11354 05076 604358 REVIEWED 1605476 STAG3L3 stromal antigen 3-like 3 7 7 q11.23 72106949 72114391 - 72467989 72476448 - 6480464 16344560;12477932;17207965;10698974 442578 B4E0Z5;E7EW03;F8WDU1;H3BQC0;H7C5Z5;P0CL85 AC005488;AC211476;AK303592;AK316130;AL137492;AMYH01017531;AY313779;BC010433;BC030509;BC066937;BC108680;BG472630;BI829811;BM007884;DA505391;DA555040;DC395490;DC405605;DC410426;NR_040582 AAH30509;AAH66937;AAI08681;AAP22359;AAP81010;ADQ33010;BAG64607;BAH14501;P0CL85 Hs.632310;Hs.661254 5015881;5020757;5021485;5037552;5106203;5109025;5125801;5126104;7188077;7188079 Bdyc3h07;D7S1490;D7S489;D8S2279;GDB:335751;GDB:4585025;RH16531;RH46474 STAG3L1;STAG3L2 OTTHUMP00000211421;OTTHUMP00000211422;OTTHUMP00000211424;STAG3-like protein;STAG3-like protein 3;stromal antigen 3-like protein 3 pseudo ENSG00000174353 33845 18656 VALIDATED 2291785 STAG3L2 stromal antigen 3-like 2 (pseudogene) 7 7 q11.23 73937203 73944667 - 74298263 74306731 - 15489334;14702039;12853948;12477932;10698974 442582 P0CL84;Q7L1H2 AC004166;AC211424;AK303473;AK307228;AK309007;AMYH01017552;BC002581;BC095487;BC119761;BG537494;BI753182;BM311130;BQ028473;CA424909;CB956482;NR_040584 AAH02581;AAI19762;BAH13970;P0CL84 Hs.632310;Hs.666638 5020757;5021485;5037552;5106203;5109025;5125801;7188077;7188079 Bdyc3h07;D7S1490;D7S489;D8S2279;RH16531;RH46474 MGC131759;STAG3L1;STAG3L2P;STAG3L3 OTTHUMP00000209501;OTTHUMP00000209503;OTTHUMP00000209504;STAG3-like protein;STAG3-like protein 2;stromal antigen 3-like protein 2 APPROVED pseudo 33886 VALIDATED 1603611 STAG3L4 stromal antigen 3-like 4 (pseudogene) 7 7 7 p11.2-q11.2 60149255 60168156 + 66405051 66423948 + 66767625 66786513 + 6480464 14702039;12477932;17207965;10698974 64940 Q8TBR4 AA012895;ABBA01048937;AC006480;AK023257;AK307290;AK308931;AMYH01017500;BC026058;CH471140;CR457306;NR_040585;NR_040586 AAH26058;AAS07569;ADQ32231;BAB14491;CAG33587;EAX07881;Q8TBR4 Hs.632013 1684566;2114949 RH67806;SHGC-30972 FLJ13195;STAG3L4P OTTHUMP00000211023;OTTHUMP00000211026;STAG3-like protein 4;stromal antigen 3-like protein 4 APPROVED pseudo ENSG00000106610 33887 07817 VALIDATED 1343297 STAG2 stromal antigen 2 X X q25 122922156 123064187 + 123094475 123236506 + 1580863;6480464;6907045 15855230;9305759;18029348;17081983;16344560;15772651;15737064;15737063;15489334;15302935;14660624;12477932;12034751;11590136;11076961;8889548;7690594;22668012;21444719;15917200;16682347;19822671;16159877;22939629;21852505;17112726;17113138;20818333;17349791;17962804;20360068;10931856;19471022;21139048;21890473;21906983;22145905;22586326;21043528;22132872;23383273;22751501;22797925 10735 B1AMS8;B1AMS9;B1AMT0;B1AMT1;B1AMT2;B1AMT3;B1AMT4;E7ERE6;F8WAK8;Q6MZM3;Q6MZP3;Q8N3U4 AA428995;ABBA01036415;ABBA01036416;ABBA01036417;ABBA01036418;ABBA01036419;ABBA01036420;ABBA01036421;ABBA01036422;ABBA01036423;ABBA01036424;ABBA01036425;ABBA01036426;ABBA01036427;ABBA01036428;ABBA01036429;ABBA01036430;AK026678;AK098737;AK298633;AK313559;AL121601;AL355476;AL831939;AMYH01022942;AMYH01022943;BC001765;BC017095;BX640970;BX641002;BX641003;CB250478;CH471107;CR627425;CR749433;DA214149;DA534452;NM_001042749;NM_001042750;NM_001042751;NM_006603 AAH01765;ADZ15945;BAG36333;BAG60808;CAD38591;CAE45985;CAE46005;CAE46006;CAH10512;CAH18271;EAX11853;EAX11854;EAX11855;EAX11856;EAX11857;NP_001036214;NP_001036215;NP_001036216;NP_006594;Q8N3U4 Hs.496710;Hs.624663 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DKFZp686P168;DKFZp781H1753;FLJ25871;SA-2;SA2;SCC3B;bA517O1.1 OTTHUMP00000024338;OTTHUMP00000043514;OTTHUMP00000043515;OTTHUMP00000081754;OTTHUMP00000081755;SCC3 homolog 2;cohesin subunit SA-2 protein-coding ENSG00000101972 11355 05077 300826 VALIDATED 7247296 STAG3L5P-PVRIG2P-PILRB STAG3L5P-PVRIG2P-PILRB readthrough This locus represents naturally occurring readthrough transcription among the neighboring LOC101735302 (stromal antigen 3 pseudogene), LOC101752334 (poliovirus receptor related immunoglobulin domain containing pseudogene) and PILRB (paired immunoglobin-like type 2 receptor beta) genes on chromosome 7. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013] q22.1 11181995;12477932;14702039;16344560;16926269 101752399 AA908333;AC005071;AF217981;AJ400846;AK056412;AK074039;AK298676;AK310352;AL834317;AL834336;BC040122;BC050547;CH471091;DB275512;DQ851871;DQ851872;DQ851874;DQ851875;DQ851876;DQ851877;DQ851878;DQ851879;DQ851880;DQ851881;DQ851883;DQ851885;NR_036569;NR_036570 AAG17224;AAH50547;BAB84865;BAG51701;BAG60840;CAC19194;CAH10711;CAH10714;EAW76547;EAW76548;EAW76549;EAW76550;EAW76552;EAW76553;EAW76554;EAW76555;EAW76556;EAW76557 Hs.521075;Hs.632314 LOC101735302-LOC101752334-PILRB miscrna 48898 VALIDATED 1320313 STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] 10 10 p14-p13 17726130 17797913 + 17686124 17758823 + 1580863;6480464;6484113;6907045 8780729;10383417;19111546;19054391;17081983;16964243;16730941;16520378;16344560;15951569;15828871;15640163;15489334;15231748;15113837;14702039;12972556;12745081;12551915;12477932;11687594;10982817;10899310;9407053;9133424;16189514;15314065;17711858;16771824;16716190;16735510;16760479;16385451;17078930;13679051;20150893;20505072;20927613;21187078;11031247;12750381;23080069;23314748;22939629;20159979;16431367;12810066;22275353;17878339;20639865;20736164;21987572;21139048;21890473;21906983;11390366;22505724;22626734 8027 A6NMU3;B4DZT2;C9J1E5;Q92783 ABBA01034552;AC069542;AK024383;AK303083;AK314405;AMYH01002068;AU118708;BC030586;BX647982;CH471072;EF445033;GN344117;NM_003473;NR_037774;U43899 AAC50734;AAH30586;ACA06077;ACA06078;BAG37028;BAG64194;CAY55994;EAW86207;EAW86208;EAW86209;NP_003464;Q92783 Hs.335391 1656623;1705636;1796882;1849497;2158755;2159153;2169980 G22042;RH45982;RH46555;RH70633;SHGC-83385;STAM_850;STS-H94886 DKFZp686J2352;STAM-1;STAM1 HSE1 homolog;OTTHUMP00000019237;STAM-1;signal transducing adapter molecule 1 APPROVED protein-coding 11357 03542 601899 REVIEWED 1603225 STAP1 signal transducing adaptor family member 1 The protein encoded by this gene functions as a docking protein acting downstream of Tec tyrosine kinase in B cell antigen receptor signaling. The protein is directly phosphorylated by Tec in vitro where it participates in a postive feedback loop, increasing Tec activity. [provided by RefSeq, Jul 2008] 4 4 4 q13.2 65886843 65935009 + 68107041 68155211 + 68424446 68472616 + 6480464 10518561;17052657;16964243;16806233;15489334;14615539;12540842;12477932;11329013;10679268;10358768;11716489;20379614;17207965;18029348;17936702;18468998 26228 Q4W5K1;Q9ULZ2 AB023483;ABBA01022900;AC096720;AC109356;AK313676;AMYH01014247;BC014958;BG190230;CH471057;NM_012108 AAH14958;AAY40998;ADQ31721;BAA85311;BAG36427;EAX05547;EAX05548;NP_036240;Q9ULZ2 Hs.435579 1716705;2218314 BRDG1_4463;RH121611 BRDG1;STAP-1 BCR downstream signaling 1;BCR downstream-signaling protein 1;OTTHUMP00000159639;OTTHUMP00000159640;docking protein BRDG1;signal-transducing adaptor protein 1;signal-transducing adaptor protein-1;stem cell adaptor protein 1 APPROVED protein-coding ENSG00000035720 24133 16053 604298 REVIEWED 1322986 STAM2 signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008] 2 2 q23.3 152683352 152740752 - 152973315 153032506 - 1580863;6480464;6484113;6907045 15231747;17403676;10567358;12218189;15962011;19054391;17081983;16730941;16713569;16381901;16189514;15951569;15882967;15815621;15489336;15489334;15231748;15144186;15113837;14702039;13129930;12551915;12477932;11687594;11256614;11230166;11076863;10993906;10982817;10899310;9119409;13679051;20504764;17588522;19060904;11031247;12750381;22863883;22939629;18029348;20159979;16159959;16429130;21121635;22140097;22275353;22841719;20736164;21987572;21139048;21890473;21906983;22493438;23222715;15212941 10254 O75886 ABBA01004786;ABBA01004787;ABBA01004788;ABBA01004789;AC079790;AF042273;AF042274;AK023490;AK292265;AK292847;AK310863;AL133600;AL161997;AMYH01011181;BC022277;BC028740;BI548350;BQ000599;CH471058;NM_005843 AAC63963;AAC63964;AAH28740;AAY14712;ABM83353;ABM86567;BAF84954;BAF85536;CAB63735;CAL38297;EAX11490;EAX11491;EAX11492;NP_005834;O75886 Hs.17200 1685734;1713143;1734734;1740085;2162619;2168392 D2S1522E;D2S2132;G16337;RH120358;RH80556;WI-20935 DKFZp564C047;Hbp;STAM2A;STAM2B HSE1 homolog;Hrs-binding protein;OTTHUMP00000162711;STAM-2;STAM-like protein containing SH3 and ITAM domains 2;signal transducing adapter molecule 2 APPROVED protein-coding ENSG00000115145 11358 05876 606244 REVIEWED 6481073 STARD13-AS STARD13 antisense RNA 13 33851691 33855471 + 100874241 ABBA01010156;AL627232;AMYH01005025;BX103803;NR_046693 Hs.662433 1689386 RH92821 STARD13-AS2 APPROVED miscrna ENSG00000236581 40873 VALIDATED 1603015 STAMBPL1 STAM binding protein-like 1 10 10 10 q23.31 84386859 84430089 + 90630006 90673224 + 90639944 90683259 + 6480464 17426287;16716190;16189514;15489334;15164054;14728725;14702039;12943674;12810066;12477932;10718198;14755250;16385451;19615732;21163940;22258247;18758443;21139048 57559 B3KR00;Q96FJ0 AB010120;AB037794;ABBA01021952;ABBA01021953;AK056086;AK090678;AK092946;AL157394;AMYH01002933;AW006657;BC010846;BX649096;CD244526;CH471066;NM_020799 AAH10846;BAA92611;BAC77766;BAG51619;BAG52212;BAG52631;EAW50156;EAW50157;EAW50158;NP_065850;Q96FJ0 Hs.16229;Hs.701879 1339007;1669473;1722719;2140019;5015619;5015961;5037552;5115329 D10S1735;D11S3114;D15S1477;D8S2279;G60446;L18494;RH66053;WI-10275 ALMalpha;AMSH-FP;AMSH-LP;FLJ31524;KIAA1373;bA399O19.2 AMSH-like protease;OTTHUMP00000020053;OTTHUMP00000020054;OTTHUMP00000020055;STAM-binding protein-like 1;associated molecule with the SH3 domain of STAM (AMSH) - Family Protein;associated molecule with the SH3 domain of STAM (AMSH) like protein protein-coding ENSG00000138134 24105 16486 612352 VALIDATED 6481078 STARD13-AS1 STARD13 antisense RNA 1 10737800 100874240 AL139187;BE151634 APPROVED miscrna 40872 6480962 STARD13-IT1 STARD13 intronic transcript 1 (non-protein coding) 100874373 AL139187 miscrna 41453 1606575 STAMBP STAM binding protein Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 p13.1 73909594 73943519 + 74056043 74094295 + 6480464;6907045 10383417;14755250;17711858;17159328;17261583;16854379;16760479;16730941;16716190;16520378;15815621;15489334;15314065;14737182;14728725;14702039;12477932;12370088;11713295;11483516;10899310;10224278;9110174;8619474;18388320;16189514;10982817;12176364;12773374;16169070;17078930;18758443;19060904;19615732;19684015;19906316;20159979;20936779;16461635;22800866;22863883;21448666;18029348;21827950;16431367;17146056;20622874;21139048;21890473;12810066;19373254;21706016;21988832;23000965;23542699;23562397;22626734 10617 C9JEK5;C9JK83;C9JZ93;F5H5B9;O95630 ABBA01075587;ABBA01075588;ABBA01075589;AC073046;AF052135;AK023768;AMYH01010447;AMYH01010448;BC007682;BC065574;BC101467;BC101469;BF203378;BM478027;BQ929694;BX538085;CH471053;CX758449;DB477012;DN919763;DR158757;EU927390;NG_033223;NM_006463;NM_201647;NM_213622;U73522 AAD05037;AAH07682;AAH65574;AAI01468;AAI01470;AAX88908;ABM83542;ABM86782;ACH57452;EAW99714;EAW99715;EAW99716;NP_006454;NP_964010;NP_998787;O95630 Hs.469018 1677987;1690680;1695690;1707702;1796880;1858356 D12S1222E;RH81009;SHGC-78733;SHGC-82024;STAMBP_1334;WI-12512 AMSH;MGC126516;MGC126518 OTTHUMP00000160249;OTTHUMP00000202512;OTTHUMP00000202513;STAM-binding protein;associated molecule with the SH3 domain of STAM;endosome-associated ubiquitin isopeptidase APPROVED protein-coding ENSG00000124356 16950 05877 606247 REVIEWED 1601996 STAP2 signal transducing adaptor family member 2 This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 19 19 p13.3 4275040 4289847 - 4324040 4338847 - 6480464 17512498;16365431;18573890;17675501;15611091;15489334;14702039;12810085;12540842;12477932;11441184;10980601;7644468;20677014;20929863;18029348;19393627;19401194;19933863;22231445;22611243 55620 M0QY82;M0QZ60;M0R0J5;M0R2W4;Q9UGK3 ABBA01056077;ABBA01056078;ABBA01056079;ABBA01056080;AC008616;AC104521;AJ245719;AK000241;AK125774;AMYH01009329;BC000795;BF677969;NM_001013841;NM_017720 AAH00795;BAA91028;CAB65105;NP_001013863;NP_060190;Q9UGK3 Hs.194385 1678665;2160104 RH91102;WI-18176 BKS;FLJ20234 BRK substrate;breast tumor kinase substrate;brk kinase substrate;signal-transducing adaptor protein 2;signal-transducing adaptor protein-2 APPROVED protein-coding ENSG00000178078 30430 07430 607881 REVIEWED 6766400 STARD4-AS1 STARD4 antisense RNA 1 5 q22.1 110847924 111075423 + 23251661 100505678 ABBA01069068;ABBA01069069;ABBA01069070;AC008967;AC011422;AC022108;AMYH01015546;AMYH01015547;CR749489;NR_040093 Hs.745061 1339068;1657136;1677588;1689338;1703242;1712174;1712725;1771548;1780896;1848552;1854150;2122231;2129436;2166730;2186724;5093944 A009Z18;D5S2051;G33015;G54138;L28299;RH11754;RH12080;RH121059;RH44458;RH46250;RH65318;SGC32386;SHGC-52395;SHGC-54512;STS-H60560;bac53212T APPROVED miscrna ENSG00000246859 44117 VALIDATED 735413 STAR steroidogenic acute regulatory protein The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008] 8 8 p11.2 38119375 38127757 - 38000218 38008600 - 1600070;1599698;4845252;4145934;4145630;4832477;4833436;4889107;4889527;4145530;4145592;2325883;6480464;7240710 8634702;16574160;20389168;19698287;19349910;17881205;17880366;18481435;17244746;20826654;9326645;18821018 8948562;21217523;15897605;16973755;19453261;19272380;19271249;19095060;19022561;19001523;18829024;18729825;18665078;18636124;18583320;18505908;18490834;18450961;18341481;18331352;18250166;18191841;18084157;18000307;17666473;17433772;17374711;16990645;16901925;16234239;16162390;15985476;15777208;15666812;15546900;15489334;15181096;14764819;14726488;14702039;14565954;12933667;12925534;12909641;12843197;12834921;12727988;12530644;12477932;12372832;12044915;11489878;11145563;11061515;10802740;10566637;10548884;10323391;9804848;9398748;9188726;9110174;9097960;8619474;7761400;7548191;7547998;16169070;8943003;19913121;20628086;21334384;15583024;18945429;19231010;19744555;19849856;19899816;19903795;19930843;19946756;20199803;20379614;20601698;20734064;20877624;20444910;20660033;21145937;21147196;21164258;21647419;21350237;22253417;21846663;23158025;22634420;22213075;23211570;23330251;23029457 6770 E5RH12;H0YB94;P49675;Q6IBK0 ABBA01023550;AC084024;AF035277;AK090513;AK315122;AL526126;AMYH01018653;AV706111;AV706872;AV707696;AV708514;AY532319;BC010550;BX647744;CH471080;CR456803;CR541850;DQ194260;DQ194261;DQ243706;NG_011827;NM_000349;S79669;U17280;U29105 AAB35726;AAB88174;AAC50141;AAC50234;AAH10550;AAS57684;ABA25863;ABA25864;ABB51615;ABM82732;ABM85916;BAG37577;CAG33084;CAG46648;EAW63334;EAW63335;NP_000340;P49675 Hs.521535 1767234;1798228;2112832;2138728;5015619;5016478 D11S3114;D8S2291;G15988;GDB:434012;SGC31588;STAR_2298 STARD1 OTTHUMP00000225718;OTTHUMP00000225719;OTTHUMP00000225878;START domain containing 1;START domain-containing protein 1;StAR-related lipid transfer (START) domain containing 1;cholesterol trafficker;mitochondrial steroid acute regulatory protein;steroid acute regulatory protein;steroidogenic acute regulator;steroidogenic acute regulatory protein, mitochondrial APPROVED protein-coding 11359 02794 201710;300707;600617 REVIEWED 1351128 STARD6 StAR-related lipid transfer (START) domain containing 6 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] 18 18 18 q21.2 48707357 48736740 - 50105060 50134941 - 51851062 51880943 - 1580863;6480464 12011452;19913121;20628086 147323 J3QLL9;J3QRT9;P59095 ABBA01018716;AC093462;AF480305;AMYH01009011;AMYH01009012;AMYH01009013;CH471096;NM_139171 AAI40309;AAI46469;AAL89655;EAW63002;EAW63003;EAW63004;EAW63005;NP_631910;P59095 Hs.438779 OTTHUMP00000163555;START domain containing 6;START domain-containing protein 6;stAR-related lipid transfer protein 6 APPROVED protein-coding ENSG00000174448 18066 09518 607051 PROVISIONAL 1315225 STARD10 StAR-related lipid transfer (START) domain containing 10 11 11 11 q13 69770308 69809280 - 72143422 72182398 - 72465774 72504750 - 6480464 17561512;15911624;15489334;14702039;14576202;12477932;10810093;9610721;19913121;20543867;20628086;17207965;19676041;21832049 10809 F5GWK5;F5GY07;F5GY11;F5GY42;F5H0V7;F5H1Z6;F5H3G8;F5H5A8;F5H8G1;F5H8H3;H0YFF3;H0YGA9;H0YGN8;H0YH17;Q9Y365 ABBA01017531;ABBA01017532;ABBA01017533;AF039696;AF151810;AK095668;AK315255;AMYH01003796;AMYH01003797;AP002381;AP003065;BC007919;BC014033;BC035482;CH471076;NM_006645 AAC18045;AAD34047;AAH07919;AAH14033;ADQ32095;BAG53103;EAW74867;EAW74868;EAW74869;EAW74870;EAW74871;EAW74872;NP_006636;Q9Y365 Hs.188606 1663032;2191227 MARC_16447-16448:1019678436:1;RH12670 CGI-52;MGC14401;NY-CO-28;PCTP2;SDCCAG28 OTTHUMP00000237455;OTTHUMP00000237456;OTTHUMP00000237457;OTTHUMP00000237458;OTTHUMP00000237459;OTTHUMP00000237460;PCTP-L;PCTP-like protein;START domain containing 10;START domain-containing protein 10;antigen NY-CO-28;serologically defined colon cancer antigen 28;stAR-related lipid transfer protein 10 protein-coding ENSG00000214530 10666 18116 VALIDATED 1319833 STARD4 StAR-related lipid transfer (START) domain containing 4 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] 5 5 5 q22.1 106779623 106793758 - 110861921 110876056 - 110834022 110848157 - 1580863;6480464 18403318;16579971;15760897;14702039;12477932;12011452;19913121;20628086;20059974;20379614;21767660;21900492;21139048;21890473;21906983;23000965;23033213;22505724 134429 D6RDM5;D6REN7;D6RIC8;Q86TN9;Q96DR4 ABBA01069070;AC011422;AF480299;AK054566;AK125317;AK290312;AK308851;AK310848;AK315863;AK315869;AL832599;AMYH01015546;BC019632;BC042956;CH471086;NM_139164 AAH42956;AAL87129;BAB70759;BAF83001;BAF98754;BAF98760;CAD89942;EAW49026;EAW49027;EAW49028;EAW49029;EAW49030;EAW49031;NP_631903;Q96DR4 Hs.93842 1699294;1699440;2106653;5016781 RH103232;RH103311;SHGC-67307;STARD4__5333 OTTHUMP00000159001;OTTHUMP00000222822;OTTHUMP00000222826;OTTHUMP00000222827;START domain containing 4 sterol-regulated;START domain containing 4, sterol regulated;START domain-containing protein 4;stAR-related lipid transfer protein 4 APPROVED protein-coding 18058 06133 607049 PROVISIONAL 1347857 STARD3 StAR-related lipid transfer (START) domain containing 3 This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 q11-q12 35046938 35073263 + 37793333 37820454 + 1580863;6480464 12011453;9270027;7490069;9139840;19272380;19124506;18331352;17117180;16990645;16709157;15930133;15718238;15489334;15010812;14702039;12477932;12459035;12398991;12070139;12011452;11196440;11053434;10995240;10802740;9237999;8125298;19913121;20628086;20198306;19965586;21322544;14715710;20686565 10948 C9J555;J3KSH0;J3KSL3;J3KT87;J3QLA7;J3QLM1;J3QLS1;J3QRG8;J3QRM3;J3QS10;Q14849 AB209772;ABBA01031860;ABBA01031861;AC087491;AK123364;AK225069;AK300176;AK300842;AK301524;AK303114;AL831952;AMYH01008375;BC008356;BC008747;BC019286;BC025679;BC047766;BT006964;CH471152;D38255;DC367486;NM_001165937;NM_001165938;NM_006804;X80198 AAH08356;AAH08747;AAH25679;AAP35610;ABM84661;ABM92192;ACE86541;ACE87222;BAA22525;BAD93009;BAG53896;BAG61955;BAG62493;BAG63027;BAG64220;CAA56489;EAW60584;EAW60585;NP_001159409;NP_001159410;NP_006795;Q14849 Hs.728838 1672006;1675612;1683277;2124465;2218586 PPP1R1B_4142;RH66410;RH91094;SHGC-31632;WI-19537 CAB1;FLJ41370;MLN64;es64 MLN 64;OTTHUMP00000164279;OTTHUMP00000164281;START domain-containing protein 3;metastatic lymph node gene 64 protein;metastatic lymph node protein 64;stAR-related lipid transfer protein 3;steroidogenic acute regulatory protein related APPROVED protein-coding 17579 06132 607048 REVIEWED 1353402 STARP1 steroidogenic acute regulatory protein pseudogene 1 13 13 13 q21.32 46754656 46785724 - 64781984 64783087 - 65854187 65885295 - 7761400 6771 ABBA01050270;AL139088;AMYH01005182;NG_002464;U29106 1767234;2112832 D8S2291;G15988 STARD1P1 pseudo 11360 INFERRED 1344085 STARD13 StAR-related lipid transfer (START) domain containing 13 This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] 13 13 13 q12-q13 14744113 14926471 - 32575307 32757892 - 33677272 34250932 - 1580863;6480464 15057823;14697242;18651974;16217026;15489334;15342556;15231748;14702039;12531887;12477932;8812419;16712791;19913121;20628086;20364137;20379614;20629949;22614672;16344560;23175628;22693547;23316797 90627 B2R789;B3KRK6;H3BRG5;H3BUW7;Q86XT1 AA256386;ABBA01010154;ABBA01010155;ABBA01010156;ABBA01010157;ABBA01010158;ABBA01010159;ABBA01010160;ABBA01010161;AK091804;AK094704;AK095114;AK308430;AK308453;AK312888;AL049801;AL138999;AL139081;AL139187;AL139383;AL161719;AL627232;AMYH01005024;AMYH01005025;AMYH01005026;AY082589;AY082590;AY082591;AY082592;AY366448;BC046563;BP233049;BX641149;BX647695;CB163673;CH471075;DA312208;DC402824;NG_029752;NM_001243466;NM_001243474;NM_001243476;NM_052851;NM_178006;NM_178007;Z84483 AAH46563;AAL91648;AAL91649;AAL91650;AAL91651;AAQ72791;BAG35736;BAG52418;BAG52916;BAG52987;CAB42562;CAC94774;CAE46065;CAI46026;EAX08527;EAX08528;EAX08529;EAX08530;EAX08531;NP_001230395;NP_001230403;NP_001230405;NP_443083;NP_821074;NP_821075;Q9Y3M8 Hs.507704;Hs.721224 1667109;1689386;1723525;1769443;1850078;1850643;2112080;2112084;2113316;2113412;2113458;2144466;2158289;2191309;5017855 D13S1692;D13S1694;D13S1719;D13S1770;D13S1794;D13S879;G31140;MARC_17243-17244:1024600391:1;RH118580;RH46278;RH92821;SHGC-35134;STAR;STS-H81269;WI-11449 ARHGAP37;DLC2;FLJ37385;GT650;LINC00464 46H23.2;DLC-2;OTTHUMP00000178559;OTTHUMP00000178560;OTTHUMP00000205446;Rho GTPase activating protein on chromosome 13q12;START domain containing 13;START domain-containing protein 13;deleted in liver cancer 2 protein;long intergenic non-protein coding RNA 464;rho GTPase-activating protein;stAR-related lipid transfer protein 13 APPROVED protein-coding ENSG00000133121 19164 11607 609866 REVIEWED 1317618 STARD5 StAR-related lipid transfer (START) domain containing 5 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD5 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] 15 15 15 q26 58542985 58554503 - 79392062 79403579 - 81605007 81616524 - 1580863;6480464 16534142;15583024;15897605;19474188;15760897;15489334;14702039;12770731;12477932;12011452;11247670;8125298;20237496;19913121;20628086 80765 H0YLW4;Q9NSY2 ABBA01060637;AC103858;AF480304;AK026352;AK097024;AK225479;AL137657;AMYH01006854;BC004365;CH471136;NM_181900 AAH04365;AAL89654;CAB70862;EAW99095;EAW99096;EAW99097;NP_871629;Q9NSY2 Hs.513075 1847864;2128117;2136917;2139156 D15S1512;RH120871;STS-W15415;WI-14768 MGC10327 OTTHUMP00000190848;START domain containing 5;START domain-containing protein 5;stAR-related lipid transfer protein 5 APPROVED protein-coding 18065 09517 607050 VALIDATED 1318520 STARD3NL STARD3 N-terminal like This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011] 7 7 7 p14-p13 38202354 38254700 + 38184458 38236795 + 38217808 38270272 + 1580863;6480464 18636124;17081983;16709157;15718238;15489334;14702039;12975309;12853948;12690205;12477932;12393907;9847074;19801982;19913121;20628086;17213182;19322201;21139048;21906983;22310353;20881960;21988832;22504420;23000965 83930 A4D1X0;C9J3F5;C9JJ39;C9JKL2;C9JPX5;O95772 AACC02000036;ABBA01056924;ABBA01056925;AC006033;AC093460;AI289220;AJ492267;AK091579;AK315404;AMYH01017188;AY358645;BC003074;BC005959;CH236951;CH471073;CS101346;DT218211;NG_030015;NM_032016;X85793 AAH03074;AAH05959;AAQ89008;AAS07552;ABM86264;BAG37796;CAA59792;CAD37353;CAJ00716;EAL23983;EAW94088;EAW94089;EAW94090;NP_114405;O95772 Hs.309753;Hs.741503 1338453;1678289;1786444;1790573;2118260;7187381 D7S2497;HSC205_(7Gr378mb);RH80173;SHGC-172109;STS-F09950 MENTHO;MGC3251 MLN64 N-terminal domain homolog;OTTHUMP00000135265;OTTHUMP00000135266;OTTHUMP00000207234;OTTHUMP00000207235;OTTHUMP00000207236;OTTHUMP00000207237;STARD3 N-terminal-like protein APPROVED protein-coding ENSG00000010270 19169 18117 611759 REVIEWED 1316908 STARD7 StAR-related lipid transfer (START) domain containing 7 Although the function of this gene is not known, its existence is supported by mRNA and EST data. The predicted gene product contains a region similar to the STAR-related lipid transfer (START) domain, which is often present in proteins involved in the cell signaling mediated by lipid binding. Alternatively spliced transcript variants have been described, although some transcripts occur only in cancer cell lines. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 91291407 91315383 - 96214324 96238300 - 96850597 96874573 - 6480464 17672918;15489334;15146197;15013637;14702039;12477932;19679347;20042613;22063720;21622533;21906983;23247143;22952907 56910 C9JTD3;Q9NQZ5 AB075479;ABBA01036594;ABBA01036595;AC012307;AF270647;AK023234;AK054615;AK094925;AK096666;AK291190;AL542720;AMYH01010721;BC003028;BC007894;BC008894;BC009998;BC012774;BC012793;BC013279;BC014076;BC014274;BC032106;CH471207;CN394859;CR749695;NM_020151 AAF81750;AAH07894;AAH08894;AAH09998;AAH12774;AAH12793;AAH13279;AAH14076;AAH14274;AAH32106;AAY24223;BAF83879;BAG51400;EAW71382;EAW71383;NP_064536;Q9NQZ5 Hs.469331 1669622;1682768;1698646;1727969;1734738;1734866;2126926;2127027;2184570;5022200;5022578 D1S1423;D2S1526E;D2S1601E;D2S1628E;D2S2837;G29310;G63404;L18426;RH102880;RH70330;RH78834 GTT1 OTTHUMP00000161014;START domain containing 7;START domain-containing protein 7;gestational trophoblastic tumor protein 1;stAR-related lipid transfer protein 7, mitochondrial APPROVED protein-coding ENSG00000084090 18063 18118 VALIDATED 1349851 STARD9 StAR-related lipid transfer (START) domain containing 9 15 15 15 q15.2 19635565 19780951 + 40744722 40800488 + 42867857 43013196 + 6480464 16964419;12477932;10718198;7633422;16169070;18464913;19913121;20628086;20309963;22153075 57519 H3BMX7;H3BN21;Q9P2P6 AB037721;ABBA01038365;ABBA01038366;AC018362;AC090510;AK025589;AK122666;AK297603;AL133579;AMYH01006582;AMYH01006583;AMYH01006584;AMYH01006585;BX648326;CR627426;CR749416;CR936665;NM_020759;Z47043;Z47044 BAA92538;BAB15181;BAC85502;BAG59988;CAA87105;CAB63725;CAH10513;CAH18258;NP_065810;Q9P2P6 Hs.122061 1681710;1681760;1689797;1728969;1736720;1736722;1736730;1736824;1761111;2108945;2146673;2157556;5024756;5037552;5095986 D15S742;D15S743;D15S750;D15S809;D15S810;D8S2279;G17861;RH15755;RH80030;RH92551;RH93705;RH99283;SHGC-145117;STARD9__5334.2;sts-Z47043 DKFZp686O248;DKFZp686P19131;DKFZp781J069;FLJ16106;FLJ21936;KIAA1300 START domain containing 9;START domain-containing protein 9;stAR-related lipid transfer protein 9 protein-coding ENSG00000159433 19162 614642 PROVISIONAL 1351860 STARD8 StAR-related lipid transfer (START) domain containing 8 This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010] X X X q13.1 68220334 68298611 + 67784236 67862403 + 67867511 67945684 + 1580863;6480464 17976533;17517630;17297465;16685650;15772651;15489334;12477932;8724849;19913121;20628086 9754 E5RFN7;Q92502 ABBA01067377;ABBA01067378;ABBA01067379;ABBA01067380;ABBA01067381;ABBA01067382;AK291747;AL360076;AL732324;AMYH01022520;BC035587;BQ019015;CH471132;CR749411;D80011;NG_016856;NM_001142503;NM_001142504;NM_014725 AAH35587;ABM81843;BAA11506;BAF84436;CAH18253;EAX05374;EAX05375;NP_001135975;NP_001135976;NP_055540;Q92502 Hs.95140 1701932;2162145;2170826 DXS7459;RH25403;STS-AA027102 ARHGAP38;DKFZp686H1668;DLC3;KIAA0189;STARTGAP3 OTTHUMP00000023455;OTTHUMP00000226680;START domain containing 8;deleted in liver cancer 3 protein;stAR-related lipid transfer protein 8 APPROVED protein-coding ENSG00000130052 19161 06730 300689 REVIEWED 1313964 STAT4 signal transducer and activator of transcription 4 The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011] 2 2 q32.2-q32.3 191602551 191724170 - 191894302 192016322 - 1625126;1580863;1357935;6480464;6484113;6907045;7207871;7207876;7240710;7207869;7207877;7207867;6893449;7207879;7207889;7207875;7207872;7207874;7207878;7207881;5509594;7207884;7207888 17312100;12039028;21237270;11257135;22729903;23049788;22798666;20980973;18803832;10553062;16195404;20045654;16920939;20479942;18516230;20978234;18296740;11240014 12615922;20453440;21167895;9989503;9284918;18029348;19500629;19479340;19404967;19371230;19333953;19332627;19286670;19282076;19258923;19225526;19120275;19110536;19109131;19092842;19019891;18802110;18759272;18703106;18625278;18579578;18576336;18576330;18434327;18432273;18273036;18204446;18204098;17932559;17804842;17703412;17532201;17095088;17046972;16301617;16081070;15744455;15637551;15489334;15087447;14660657;12805384;12716907;12477932;12426389;12372421;11801649;11397944;10961885;10779770;10415122;9890938;9630226;8700208;8007943;7638186;12496413;20716621;20797713;20822712;20848568;20861858;20881011;20962850;20153791;22714917;14704793;15522880;19359411;19362457;19423540;19565500;19588142;19605742;19605749;19644876;19644887;19674979;19684152;19710469;19717398;19737838;19741008;19762360;19838193;19877059;19950257;20049410;20131273;20169389;20176035;20219786;20233754;20237121;20237496;20353580;20360187;20379614;20383147;20406964;20438785;20438790;20439292;20444755;20454450;20498205;20503287;20535138;19165918;20453841;20453842;21163111;21383967;21399635;21408207;21418779;21543583;21683716;21740896;20584675;22937072;22133489;22569826;23001997;23202532;21750679;21779181;22001757;22069275;22077060;21258797;22483685;23064011;22753649;15963787;22730365;22718836;18037959;23000144;23053960;23128233;23273568;23291587;23242368;22402141 6775 C9JFG0;C9JM11;E9PBE2;E9PG69;Q14765 AB209043;ABBA01062392;ABBA01062393;ABBA01062394;ABBA01062395;AC067945;AC079777;AF423072;AK299976;AK300868;AK301172;AMYH01011350;BC016694;BC031212;BF966132;CH471058;DC306142;DC399230;EU304788;EU304789;EU304790;EU304791;EU304792;EU304793;L78440;NG_012852;NM_001243835;NM_003151 AAB05605;AAH31212;AAL12164;AAY15055;AAY24184;ABM82474;ABM85662;ACA01857;ACA01858;ACA01859;ACA01860;ACA01861;ACA01862;BAD92280;BAG61799;BAG62516;BAG62759;EAX10846;EAX10847;EAX10848;EAX10849;NP_001230764;NP_003142;Q14765 Hs.735572;Hs.80642 1654307;1714427;1794760 PMC55319P3;RH120206;RH17878 SLEB11 OTTHUMP00000163553;OTTHUMP00000205847;signal transducer and activator of transcription 4 APPROVED protein-coding ENSG00000138378 11365 02779 600558;612253 REVIEWED 1323217 STAT2 signal transducer and activator of transcription 2, 113kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 12 12 q13.3 55021648 55040176 - 56735381 56754037 - 1625126;1580863;1357935;2303397;6480464;6484113;6907045 17312100;12039028;17880360 10446176;8605876;9020188;17923090;19434718;19351818;19279106;19159017;19007958;18796709;18771758;18701593;18579593;18456457;18370868;18338947;17538964;17442890;16978698;16918696;16689942;16501077;16227264;15717316;15668228;15650219;15489334;15221897;15175343;15165826;14722125;14702039;14645718;14557668;12804771;12777975;12610111;12509459;12477932;12388709;12244326;12220192;12167251;12050355;12048190;11932384;11804954;11786546;11564163;11150296;10702714;10506573;10490982;10464260;21399658;9804758;9242679;9121453;8848048;8621447;8605877;7885841;7746328;7559568;1502204;8943351;15467722;8601453;19913121;20533260;20588308;20628086;20428775;11694501;18029348;20937132;20953190;17351669;19169254;19423540;19561067;19730683;19754307;20068068;20331378;20406964;20438785;21268015;21498520;20403236;21075352;15154850;15356134;21795355;22318606;21139048;21890473;21906983;22238643;22022391;21354905;21903422;22426484;22523757;19322201;22883142;20881960;23391734;23139419;21988832;22859983;22939624;23000965;23456168;9724754;21886773;22634037 6773 B4DLC8;G3V268;G3V319;P52630 ABBA01008423;ABBA01008424;AC025574;AK094039;AK295052;AK295114;AK296939;AK296940;AK308051;AK310727;AK316516;AMYH01004504;AY525126;BC006092;BC051284;BX640607;CD684210;CH471054;CS542453;DB482283;JX178204;JX178205;JX178206;JX178208;JX178209;JX178210;JX178211;JX178213;JX178214;JX178215;JX178216;JX178217;JX178218;JX178219;JX178220;JX178223;JX178224;JX178225;JX178227;JX178232;JX178234;JX178236;JX178237;JX178238;JX178239;JX178240;JX178241;JX178242;JX178243;JX178245;JX178246;JX178247;JX178249;JX178250;JX178251;JX178252;JX178254;JX178255;JX178256;JX178257;JX178258;JX178260;JX178262;JX178263;JX178264;JX178266;JX178269;JX178273;M97934;NM_005419;NM_198332;S81491;U18671 AAA98760;AAB36225;AAB36226;AAB36227;AAH06092;AAH51284;AAS00091;AFM91192;AFM91193;AFM91194;AFM91197;AFM91198;AFM91199;AFM91200;AFM91202;AFM91203;AFM91204;AFM91205;AFM91206;AFM91207;AFM91208;AFM91209;AFM91212;AFM91213;AFM91214;AFM91216;AFM91221;AFM91223;AFM91225;AFM91226;AFM91227;AFM91228;AFM91229;AFM91230;AFM91231;AFM91232;AFM91234;AFM91235;AFM91236;AFM91238;AFM91239;AFM91240;AFM91241;AFM91243;AFM91244;AFM91245;AFM91246;AFM91247;AFM91249;AFM91251;AFM91252;AFM91253;AFM91255;AFM91258;AFM91262;BAG58101;BAG58143;BAG59489;BAG59490;BAH14887;CAE45713;CAM91176;EAW96934;EAW96935;EAW96936;EAW96937;NP_005410;NP_938146;P52630 Hs.530595 1660175;1683884;1684692;1789392;1789394;1789396;1789398;1789400;1789402;1789404;1789406;1789408;1789410;1789412;1789414;1789416;1798230;2144932;5015881;5022450;5024761;5109281;5113607 D10S275;D12S1878;D1S1425;G67915;G67916;G67917;G67918;G67919;G67920;G67921;G67922;G67923;G67924;G67925;G67926;G67927;GDB:335751;RH36905;RH40514;RH80815;RH99119;STAT2_258;STS-L27050 ISGF-3;MGC59816;P113;STAT113 OTTHUMP00000244356;OTTHUMP00000244357;OTTHUMP00000244513;interferon alpha induced transcriptional activator;signal transducer and activator of transcription 2 APPROVED protein-coding 11363 02778 600556 REVIEWED 737523 STAT5A signal transducer and activator of transcription 5A The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for the tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. [provided by RefSeq, Jul 2008] 17 17 q11.2 37693091 37717484 + 40439565 40463961 + 1624963;1625126;1580863;1357935;2291932;2291927;2291930;2298539;2303397;6480464;6484113;6907045 11064147;17312100;12039028;15609129;17173897;16133357;12082622;17880360 16819511;7719937;8631883;19309697;19276230;19262752;19258923;22367509;19036881;18838617;18830265;18779318;18660489;18616510;18483262;18460645;18436865;18378698;18296629;18271926;18270368;18172316;18063684;18023521;17938255;17922009;17913706;17867599;17846080;17726024;17703412;17666591;17639043;17438530;17376889;17332243;17330131;17220171;17214852;17169805;17128418;17081983;17038539;17015686;16973758;16954437;16840779;16804404;16729043;16684963;16572323;16532027;16502315;16476059;16455947;16407271;16303247;16189514;16115927;15795318;15677474;15652752;15611091;15592524;15588985;15534001;15489334;15358227;15353555;15313458;15304355;15169792;15128421;15063762;15048088;15010467;14726487;14726409;14696092;14645506;14637146;14597631;12954634;12901872;12847485;12477932;12459499;12456798;12393707;12377952;12237455;12208876;12198240;12193575;12091337;12060651;12039059;11997457;11973644;11923474;11867689;11861304;11779872;11773439;11756417;11726519;11722592;11682624;11440634;11418668;11418623;11413148;11167825;11158330;11097834;11030348;10996427;10825200;10652277;10617656;10602027;10570284;10428030;10358079;10358045;10194762;10037796;10037026;9989503;9880255;9837784;9575217;9528750;9484840;9398404;9373245;9122188;9047382;8977232;8878484;8732682;8702683;8617237;7925280;7719938;12605694;11485409;16289657;15735688;10594041;21079973;20508164;20233708;20388848;18029348;20716621;20113333;20489169;12574125;20849385;20415542;9030599;14704793;15644415;19362457;19423540;19423653;19491198;19571317;19675167;19779039;19797429;19817957;19864382;19923221;19956772;19966185;20065083;20124477;20214633;20331378;20339093;20406964;20438785;20503287;20530519;20974963;18250158;17387179;21220747;21233313;21263150;21464042;21698228;18413343;20952588;21531896;21606506;23161573;21602494;21785216;21749449;20196786;21619451;21704724;21816901;21900206;21771882;22065720;9773981;23111066;23134344;23223023;21890473;21963094;21988832;23243289;21542777;22159083;21826656;22046434;22196377;21763497;22584572;22753752;9657743;23151802;23438599;23128233;23533197;10374881;22053931;22505724;22781567 6776 A8K6I5;C9JVV6;K7EIF9;K7EK35;K7EM17;P42229;Q1KLZ6;Q59GY7;Q8WWS9 AB208972;ABBA01006428;AC087691;AC099811;AJ412878;AK291650;AK301457;AK310632;AK310713;AMYH01008393;BC027036;CH471152;CQ815789;DQ471288;HI179066;L41142;NM_003152;U43185 AAA73962;AAB06589;AAH27036;ABF17939;ABM82649;ABM85826;BAD92209;BAF84339;BAH13486;CAD19637;CAG32953;CBX53841;EAW60819;NP_003143;P42229 Hs.437058 1717349;1793714;1796888;2183424;2183965 PMC262552P1;RH122165;RH12579;RH71461;STAT5A_260 MGF;STAT5 OTTHUMP00000198376;signal transducer and activator of transcription 5A APPROVED protein-coding ENSG00000126561 11366 03301 601511 REVIEWED 730906 STAT5B signal transducer and activator of transcription 5B The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008] 17 17 q11.2 37604721 37681950 - 40351195 40428424 - 1625124;1601380;1625126;1580863;1601383;1624963;2291935;2291940;2303397;2291933;6480464;6484113;6907045;7240710 17347799;16730240;17312100;17327369;11064147;17565389;17003334;17880360;14695191 10954736;12605694;20372799;18285272;18276758;18197699;18172316;17997837;17881646;17822672;17726024;17652536;17639043;17630355;17546465;17509524;17471233;17438530;17389811;17148664;16964243;16920911;16887981;16840779;16772534;16765629;16729043;16584384;16502315;16476059;16464942;16303763;16169484;16155412;16115927;15944278;15677474;15611091;15591245;15588985;15489334;15128421;15105428;15067053;15010467;14726487;14726409;14662325;14645506;14583472;13679528;12954634;12901872;12847485;12642867;12621061;12538627;12477932;12456798;12429742;12377952;12237455;12198240;12193575;12167251;12145702;12089361;12039059;12039028;12036885;11929749;11929748;11923474;11867689;11773439;11751923;11726519;11562369;11440634;11158330;11097834;11030348;10996427;12552091;9989503;8631883;19375647;19290007;19047094;18978678;18927468;18831980;18768844;18660489;18550772;18430728;10830280;10815800;10720694;10652277;10617656;10602027;10558875;10506573;10441338;10358045;9880255;9845531;9813029;9804779;9528750;9484840;9428692;9398404;9211920;9122188;8977232;8923468;8878484;8732682;8702476;7719938;22442148;11485409;16289657;11350939;9047382;9575217;10594041;20227268;20233708;19913121;20628086;20716621;20702587;20339477;20372811;20621061;20585448;20415542;20534752;20538865;20644163;14704793;15644415;17672932;19011510;19349617;19362457;19423540;19630967;19709433;19775300;19796718;19923221;19966185;20065083;20352702;20406964;20438785;20167868;22522791;21670473;21276004;16025120;17225522;21106534;21214269;21464042;20969921;22863883;22729867;21470284;21704724;21752895;21139048;22552610;22159083;22093990;22194600;20962278;21712541;21964595;21826656;22959364;23166650;23341462;22126101;21832049;22939629;22977252;19738201;21890473;21988832;22053931;23097626;23130760;23151802;23160480;23128233;17332243;22505724;22678306;22725130;23596048;23149921 6777 C9J4I3;P51692 AB208920;ABBA01006429;ABBA01006430;ABBA01006431;ABBA01006432;ABBA01006433;AC099811;AJ412888;AK308163;AL040162;AL080218;AMYH01008391;BC020868;BC029072;BC065227;CH471152;CQ815791;NG_007271;NM_012448;U47686;U48730 AAC50485;AAC50491;AAH20868;AAH65227;ABZ92030;BAD92157;CAD19638;CAG32954;EAW60817;NP_036580;P51692 Hs.595276 1335074;1335342;1341858;1658566;1660104;1683483;1732247;1732249;1733468;2117829;2153799;2153862;2154907;2176342;2185412;5109281;5122590 D17S1139;D17S1143;D17S1192;D17S1240;D17S1673;D17S1793;D17S1801;D17S1802;D1S1425;RH16203;RH36528;RH45469;RH91495;SHGC-64296;STS-T90203;STS-U48730;WI-11886 STAT5 OTTHUMP00000198374;signal transducer and activator of transcription 5B;transcription factor STAT5B APPROVED protein-coding ENSG00000173757 11367 05037 245590;604260 REVIEWED 732184 STAT1 signal transducer and activator of transcription 1, 91kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 2 2 q32.2 191542121 191587181 - 191833762 191878976 - 1600091;1600092;1582346;1600087;1600090;1600103;1600105;1625126;1580863;1357935;2291893;2291895;2291900;2291905;2291892;2298537;2291894;2290484;5686834;5686839;6480464;5688379;6483041;6483023;6483034;6483036;6484113;6907045;7240710 16935931;16806015;14674010;11452125;17097800;15262323;14678947;17312100;12039028;16799645;11325527;17670769;17067487;17868458;15994429;12374673;9748134;22029668;21881215;21115385;22066025;21596098;17897356;17849321 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6772 D2KFR9;E7ENM1;E7EPD2;E9PH66;H7BZ88;H7BZB5;J3KPM9;Q9UDL5 ABBA01062392;AC067945;AF182311;AI992149;AK096686;AK225853;AK292604;AK315002;AMYH01011350;AY366464;AY865620;BC002704;BC141921;BG699050;BT007241;BU738296;BX400908;CH471058;CN410740;CR749636;CR998778;CS542449;CS542451;DA313984;EB385742;GU211347;GU211348;M97935;M97936;NG_008294;NM_007315;NM_139266;U18662;U18663;U18664;U18665;U18666;U18667;U18668;U18669;U18670 AAB64012;AAH02704;AAI41922;AAP35905;AAR13284;AAW56072;AAY24183;ACE86735;ACE87421;ADA59516;ADA59517;BAF85293;BAG37497;CAH18430;CAM91174;CAM91175;EAX10850;EAX10851;EAX10852;EAX10853;EAX10854;EAX10855;NP_009330;NP_644671;P42224 Hs.642990;Hs.743244 1647801;1775507;1789368;1789370;1789372;1789374;1789376;1789378;1789380;1789382;1789384;1789386;1789388;1789390;1796884;2164867 G67903;G67904;G67905;G67906;G67907;G67908;G67909;G67910;G67911;G67912;G67913;G67914;RH36288;RH78038;STAT1_425;STS-N69004 CANDF7;DKFZp686B04100;ISGF-3;STAT91 OTTHUMP00000163552;OTTHUMP00000165046;OTTHUMP00000165047;OTTHUMP00000205845;signal transducer and activator of transcription 1;signal transducer and activator of transcription 1-alpha/beta;signal transducer and activator of transcription-1;transcription factor ISGF-3 components p91/p84 1643406 BMD6_H APPROVED protein-coding ENSG00000115415 11362 02777 209950;600555;613796;614162 REVIEWED 1319194 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 12 12 q13 55775458 55791428 - 57489187 57505196 - 1625126;1580863;1357935;2298560;2298559;2298563;2303397;6480464;6484113;6907045;7244143;7243974;7244144;7243976;7243977;7244136;7244138;7243973;7207876;7243978;7244153;7244150;7244151;7244140;7244137;7244146 17312100;12039028;11912448;17705178;11086031;17880360;12709397;22025716;19011907;21985369;18273035;15647835;12900808;22867713;11257135;16399078;16083555;22134058;19087723;12874250;15117875;15687724 9989503;10747856;18029348;19494273;19488417;19419769;19372141;19282076;19258923;19247692;19030780;18846228;18716132;18636124;18626468;18536936;18497474;18345495;18342537;18296848;18294957;18251702;18191727;17883727;17703412;17652621;17606441;17541284;17532201;17433443;17371990;17362266;17237818;17213269;17210636;17121586;17074026;16951379;16877367;16867043;16810739;16681592;16601843;16547812;16387423;16103897;16084752;16004996;15888279;15793005;15733066;15695802;15661890;15637551;15528258;15526032;15522309;15489334;15342695;15297269;15199062;15105161;15069079;15044251;15004182;14757047;14746803;14735150;14719123;14634100;14519766;12935900;12794133;12791978;12759487;12689929;12651067;12605697;12477932;12459556;12426308;12234934;12161424;12138096;12082548;12058257;12023955;11944890;11912176;11872954;11692112;11574547;11532018;11509556;11369758;11032724;10856136;10601358;10490982;10490661;10454341;9782085;9712049;9605853;9584180;8810328;8602264;8602263;8085155;17151125;8816495;15588942;22021169;21268015;21277633;21275604;19540524;19913121;20530519;20628086;20480530;14704793;19202006;19362457;19423540;19423726;19531027;19551406;19655172;19665768;19857574;20010912;20040389;20121258;20147633;20208534;20237496;20394509;20395963;20406964;20438785;20503287;20624917;21196282;21357535;19949830;20719954;20211142;20716621;20006706;20122976;20339477;20620946;20620947;16537510;20840631;20859068;20498360;20652946;20225206;21093321;22534531;18267973;20980261;14993689;15145939;20576420;21106524;21123173;22939629;22863883;9651359;22909160;21103663;8609418;20128278;21340358;21411736;21595984;23313952;23313954;21605467;21765211;21814192;21081493;21762972;22025054;22094113;23535094;23815671;22509288;22578203;21139048;21906983;22012462;22075330;22108090;22226123;19471022;22017802;22045870;22162773;21601544;22365404;22318606;22406175;22451727;12207328;18037959;21963094;21988832;23154639;9392697;23185525;22505724;23461825;22997428;23297791;23184467;22661199 6778 A8K4S9;B4DQB3;G3V2H4;G3V2L2;G3V2M3;G3V2X7;G3V370;G3V3E9;G3V568;G3V5I8;G3V5K5;H0YIY2;H0YJH6;P42226;Q5FBW6 AB103088;AB103089;ABBA01008450;AC023237;AF067572;AF067573;AF067574;AF067575;AF417842;AI082533;AK290431;AK291044;AK298721;AK299094;AK308751;AK312471;AK316142;AK316236;AMYH01004512;AY615283;BC004973;BC005823;BC075852;BQ028928;BT007380;NG_021272;NM_001178078;NM_001178079;NM_001178080;NM_001178081;NM_003153;NR_033659;U16031;U66574 AAA57193;AAC51204;AAC67525;AAH75852;AAL06595;AAP36044;AAU04439;BAD89431;BAD89432;BAF83120;BAF83733;BAG35377;BAG60875;BAG61154;BAH14513;BAH14607;NP_001171549;NP_001171550;NP_001171551;NP_001171552;NP_003144;P42226 Hs.524518 1337965;1339759;1665499;1712134;1767266;1769647;1796890;2125246;5093412;7185574 A009O16;D12S1644;D12S1691;G32703;G54117;RH44534;RH70573;STAT6_856;STS-X70991 D12S1644;IL-4-STAT;STAT6B;STAT6C OTTHUMP00000245396;OTTHUMP00000245397;OTTHUMP00000245398;OTTHUMP00000245399;OTTHUMP00000245400;OTTHUMP00000245401;STAT, interleukin4-induced;signal transducer and activator of transcription 6;transcription factor IL-4 STAT APPROVED protein-coding ENSG00000166888 11368 03302 601512 REVIEWED 6766940 STAU2-AS1 STAU2 antisense RNA 1 8 q21.11 74332309 74353753 + 14702039 100128126 ABBA01041967;ABBA01041968;AC018620;AK056720;AMYH01018792;NR_038406 Hs.679921 1666242;2163653;5037552 D8S1387E;D8S2279;RH12642 APPROVED miscrna ENSG00000253302 44101 VALIDATED 737517 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Three alternatively spliced transcript variants encoding distinct isoforms have been described. 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6774 G8JLH9;K7ENL3;K7EP08;P40763 AB451232;ABBA01006426;ABBA01006427;ABBA01006428;AC087691;AC107993;AF029311;AF332508;AI631896;AJ012463;AK024535;AK092965;AK291933;AK297994;AK301200;AK316139;AMYH01008393;AY572796;BC000627;BC008044;BC014482;BC029783;BC067119;BC107775;BI461226;CB216860;CB321646;CF454565;CH471152;HI961665;JA362592;L29277;NG_007370;NM_003150;NM_139276;NM_213662 AAA58374;AAB84254;AAH00627;AAH14482;AAK17196;AAS66986;ABZ92186;ACE86450;ACE87126;BAF84622;BAG60302;BAG62778;BAG70046;BAH14510;CAA10032;CAL37986;CBY84972;CCA94578;EAW60820;EAW60821;EAW60822;EAW60823;EAW60824;EAW60825;EAW60826;EAW60827;NP_003141;NP_644805;NP_998827;P40763 Hs.463059 1334593;1681141;1698240;1734526;1737897;1793866;1794544;1796886;2155051;2159889;2189553;5015861;5015879;5015961;5020740;5022463;5022578;5022588;5037552;7185938;7187807 A008U14;D10S16;D11S3502;D15S1477;D17S1460E;D1S1423;D3S1673;D4S428;D5S1597E;D8S2279;GDB:314949;L17809;PMC303343P1;PMC317074P1;RH102656;RH36906;STAT3_852;STS-W49595;UniSTS:236743 APRF;FLJ20882;HIES;MGC16063 DNA-binding protein APRF;OTTHUMP00000198123;OTTHUMP00000198128;acute-phase response factor;signal transducer and activator of transcription 3 APPROVED protein-coding ENSG00000168610 11364 00026 102582;147060 REVIEWED 1352585 STATH statherin 4 4 q13.3 70896237 70902762 + 70861648 70868173 + 1580863;6480464 12060866;10831095;1718282;1741693;1313424;15769251;15489334;12477932;12444093;10748043;10728974;9109822;9048421;7876428;3502720;3476566;3426601;2483725;2373369;1747107;838735;16203048;19678690;19799638;20237496;20731414;22563672 6779 P02808 ABBA01022923;AC063956;AK311812;AMYH01014272;BC067219;BX649104;CB958641;CB986973;CH471057;M18078;M18371;M32639;NM_001009181;NM_003154 AAA60593;AAA60594;AAA60600;AAH67219;BAG34755;EAX05603;EAX05604;EAX05605;NP_001009181;NP_003145;P02808 Hs.654495 1784920;2140091;2157210;5091267 D4S2814;SGC35622;SHGC-59549;SHGC4-1838 STR OTTHUMP00000159760;OTTHUMP00000218950;statherin protein-coding ENSG00000126549 11369 01696 184470 VALIDATED 734025 STAU1 staufen double-stranded RNA binding protein 1 Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. [provided by RefSeq, Jul 2008] 20 20 q13.1 47163283 47238311 - 47729876 47804904 - 1580863;6480464 10022909;15303970;15680326;18806890;18498651;18094122;17510634;17428849;15489334;15231748;15121898;15024055;14702039;12843282;12477932;12388589;12147688;12133005;12065664;11780052;11230166;10823848;10707969;10325410;10022908;8884277;20504931;21145461;20459747;16014633;19029303;19710015;20053637;20075165;21307942;21832049;23080069;23106098;21182205;22990118;16196087;22586326;21139048;21900206;21903422;21945618;21907836;22321011;22503102;22431750;19322201;21628590;22584570;22779921;21182203;21282530;23000965;18508616;22978549;23524536 6780 B3KRE0;F6UDC6;Q5JW28;Q5JW30;Q6PJX3;Q9Y3Q2 AB209561;ABBA01052733;ABBA01052734;ABBA01052735;ABBA01052736;ABBA01052737;ABBA01052738;AF061938;AF061939;AF061940;AF061941;AJ132258;AK025519;AK057739;AK091405;AK291487;AK292859;AK298372;AL133174;AL136601;AMYH01011963;AMYH01011964;AY529074;AY546099;BC000830;BC001893;BC007532;BC010169;BC050432;BC095397;CH471077;NG_029453;NM_001037328;NM_004602;NM_017452;NM_017453;NM_017454 AAD17530;AAD17531;AAD17532;AAD17533;AAH10169;AAH50432;AAH95397;AAS76636;AAS76637;ACE86984;ACE87673;BAD92798;BAF84176;BAF85548;BAG52352;BAG60611;CAB40082;CAB66536;EAW75669;EAW75670;EAW75671;EAW75672;EAW75673;EAW75674;NP_001032405;NP_004593;NP_059346;NP_059347;NP_059348;O95793 Hs.596704 1647403;1650357;1665458;1687291;1696894;2111510;2127936;2134946;2163724;2173181;2187288 AL031479;D20S1087;G30939;RH101842;RH11549;RH12471;RH46281;RH98959;STS-T39112;WI-17676;Z94346 FLJ25010;STAU OTTHUMP00000031233;OTTHUMP00000031234;OTTHUMP00000031235;OTTHUMP00000031236;OTTHUMP00000031238;OTTHUMP00000031239;double-stranded RNA-binding protein Staufen homolog 1;staufen (drosophila, rna-binding protein);staufen, RNA binding protein, homolog 1 APPROVED protein-coding ENSG00000124214 11370 03422 601716 REVIEWED 5132364 STEAP1B STEAP family member 1B 7 7 7 p15.3 22444590 22525251 - 22492947 22510602 - 22459063 22539901 - 6480464 12477932;21546767 256227 B5MCI2;C9JE84;C9JL51;Q6NZ63 AACC02000007;ABBA01056690;AC002480;AC005061;AC099759;AK308991;AMYH01017105;AMYH01017106;BC066301;CH236948;NM_001164460;NM_207342 AAH66301;EAL24267;EAL24268;NP_001157932;NP_997225;Q6NZ63 Hs.729825 1652032;1805282;1805484;1806884;1812754;1819590;1827050;1828890;1843406;2069672;2069676;2069678;2069680;2069682;2069684;2069686;2069688;2069690;2069692;2069694;2069696;2069702;2069708;2069710;2069712;2069718;2069720;2069724;2069728;2069912;2069914;2069916;2069918;2069920;2069922;2069928;2069930;2169014;2193944;2193948;2193950;2193984;2193986 D7S1975;D7S723;ECD03587;ECD03690;ECD04407;ECD07388;ECD10862;ECD14640;ECD15572;ECD22912;REN106026;REN106028;REN106029;REN106030;REN106031;REN106032;REN106033;REN106034;REN106035;REN106036;REN106037;REN106038;REN106041;REN106045;REN106046;REN106047;REN106050;REN106051;REN106053;REN106055;REN106147;REN106148;REN106149;REN106150;REN106151;REN106152;REN106155;REN106156;stSG614432;stSG614434;stSG614435;stSG614452;stSG614453 MGC87042 OTTHUMP00000201887;OTTHUMP00000201888;OTTHUMP00000201967;STEAP family member 1B;STEAP family protein MGC87042 protein-coding ENSG00000105889 41907 VALIDATED 6481305 STEAP2-AS1 STEAP2 antisense RNA 1 100874100 AC002064 APPROVED miscrna 40820 1351558 STAU2 staufen double-stranded RNA binding protein 2 Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 8 8 8 q21.11 70330172 70657629 - 74624394 74821611 - 74332604 74659943 - 1580863;6480464 10585778;18094122;16964243;15489334;14702039;12477932;12140260;10707969;8889548;15024055;16169070;21145461;23000965;19454010;21508097;21139048;21906983;21903422;19322201;23263869;22505724 27067 A8K276;E5RFK1;E5RGQ5;E5RGT3;E5RJ67;E5RJN7;E7EPX0;E7EVI1;E7EVJ4;E9PH62;F8VPI7;G5EA18;H0YBY0;Q4LE57;Q6AHY7 AB210014;ABBA01041967;ABBA01041968;ABBA01041969;ABBA01041970;AC018620;AC027018;AC100784;AF459097;AF459098;AK001576;AK002152;AK023314;AK290141;AK293496;AK293729;AK294466;AK303104;AK307841;AK314617;AL079285;AL079286;AL079288;AMYH01018792;AMYH01018793;AMYH01018794;AMYH01018795;BC008369;BC008370;BC071766;BC110447;BC110448;CA311807;CH471068;CR627442;DB501161;NM_001164380;NM_001164381;NM_001164382;NM_001164383;NM_001164384;NM_001164385;NM_014393;Y19062 AAH08369;AAH08370;AAI10448;AAN37926;AAN37927;ABM87331;ABW03874;BAA91766;BAA92111;BAB14522;BAE06096;BAF82830;BAG37183;BAH11522;BAH11582;BAH11778;BAH13900;CAB64341;CAH10527;EAW87003;EAW87004;EAW87005;EAW87006;EAW87007;NP_001157852;NP_001157853;NP_001157854;NP_001157855;NP_001157856;NP_001157857;NP_055208;Q9NUL3 Hs.561815 1666242;1667456;1671059;1677762;1680481;1704690;1709588;1717481;1728389;1857861;2114270;2121790;2140497;2144697;2163653;2171778;2177827;2179389 A008X48;AFMB336XG5;D8S1387E;D8S1982;G63477;RH122246;RH12642;RH44506;RH93062;RH94104;SHGC-34599;SHGC-56844;SHGC-78998;SHGC-85153;STS-AA027159;WI-14265;WI-16800;WI-17983 39K2;39K3;DKFZp781K0371;MGC119606 OTTHUMP00000226832;OTTHUMP00000226833;OTTHUMP00000226834;OTTHUMP00000226835;OTTHUMP00000226836;OTTHUMP00000226837;OTTHUMP00000226838;OTTHUMP00000226839;OTTHUMP00000226840;OTTHUMP00000226841;OTTHUMP00000226842;OTTHUMP00000226843;double-stranded RNA-binding protein Staufen homolog 2;staufen homolog 2;staufen, RNA binding protein, homolog 2 APPROVED protein-coding ENSG00000040341 11371 09328 605920 REVIEWED 6481200 STEAP3-AS1 STEAP3 antisense RNA 1 100874111 AC016673 APPROVED miscrna 41053 730961 STC1 stanniocalcin 1 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008] 8 8 p21-p11.2 23755379 23768265 - 23699434 23712320 - 1580863;2324700;6480464 15485913 1458489;21474827;8700837;18786506;18652825;18590575;18355956;18309109;18164591;17457011;17395153;17272771;17032941;16377640;16109785;15489334;15383693;15340161;15149855;15131261;15062564;14503913;14500721;12663264;12477932;12406069;12223480;11861508;10947959;10725397;9794484;9708804;9480753;7892193;7489828;19913121;20628086;22889960;19267325;19444628;19628018;19712479;20484106;20383146;20174869;20827662;21273618;20422040;22537917;21672207;21720730;21465530;21656524;22200953;22588538;22589738;22693564;23243022;23263486 6781 B4DN22;P52823 ABBA01005547;AC012119;AF098463;AF242179;AK297734;AK309366;AK312589;AMYH01018577;BC029044;CH471080;NG_029711;NM_003155;S50179;S50184;U25997;U46768 AAA88903;AAC09472;AAC97949;AAH29044;AAL79522;ABM81739;ABM84894;BAG35483;BAG60084;EAW63610;NP_003146;P52823 Hs.25590 1792986;1850875;2109891;2119297;2159774;2185329 PMC179881P1;RH18022;RH70507;RH71409;SGC35548;STC1_8652 STC OTTHUMP00000123536;OTTHUMP00000225201;STC-1;stanniocalcin-1 APPROVED protein-coding ENSG00000159167 11373 03115 601185 REVIEWED 1346905 STGD4 Stargardt disease 4 (autosomal dominant) 7240710 10205271 9634 11384 603786;608051;612095;612657 1604058 STBD1 starch binding domain 1 4 4 4 q21.1 74527815 74532422 + 77446823 77451307 + 77227179 77232283 + 6480464 9794794;16303743;15489334;15231748;14702039;12477932;8828038;19915575;20562859;21893048 8987 B3KMK8;O95210 ABBA01063358;AC034139;AF062534;AK002155;AK074635;AK123795;AMYH01014313;BC022301;CH471057;NM_003943 AAC78827;AAH22301;ABM82900;ABM86091;BAG51020;BAG53961;EAX05782;EAX05783;NP_003934;O95210 Hs.109590;Hs.720509 1695310;1754701;2108115;2153233;2165038;2184164;5015961 D15S1477;D4S2479E;GENX-_3414_8882;SHGC-133062;SHGC-63500;SHGC-63501;WI-17734 FLJ41801;GENEX3414;GENX-3414 OTTHUMP00000160602;genethonin 1;genethonin-1;starch-binding domain-containing protein 1 protein-coding ENSG00000118804 24854 08460 607406 VALIDATED 1323057 STEAP1 six transmembrane epithelial antigen of the prostate 1 This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008] 7 7 q21 89621625 89632077 + 89783689 89794141 + 1580863;6480464 10588738;19124506;18958632;18793824;15958640;15489334;12853948;12690205;12477932;12095985;11479226;9847074;20628624;19915386;17207965;19196137;22080479;21928126;22317770;21139048;21906983;23060075 26872 H7C0D8;Q9UHE8 AACC02000015;ABBA01045842;AC004969;AC005053;AF186249;AK304076;AK308452;AMYH01017679;BC011802;BI549469;CH236949;CH471073;CS283329;NM_012449 AAD15620;AAF17479;AAH11802;ADQ32693;BAG64983;CAJ90613;EAL24166;EAL24167;EAW93749;EAW93750;EAW93751;EAW93752;NP_036581;Q9UHE8 Hs.61635 1652032;1688132;1805282;1805484;1806884;1807508;1814482;1821948;1827050;1828890;1833322;1843406;2069674;2069698;2069700;2069704;2069706;2069714;2069716;2069720;2069722;2069726;2069728;2069730;2069732;2069734;2069736;2069738;2069740;2069742;2069744;2069746;2069748;2069750;2109893;2193942;2193946;2193952;2193954;2193956 D7S723;ECD03587;ECD03690;ECD04407;ECD04726;ECD08271;ECD12060;ECD14640;ECD15572;ECD17804;ECD22912;REN106027;REN106039;REN106040;REN106042;REN106043;REN106048;REN106049;REN106051;REN106052;REN106054;REN106055;REN106056;REN106057;REN106058;REN106059;REN106060;REN106061;REN106062;REN106063;REN106064;REN106065;REN106066;RH94098;STEAP_9504;stSG614431;stSG614433;stSG614436;stSG614437;stSG614438 MGC19484;PRSS24;STEAP OTTHUMP00000024624;metalloreductase STEAP1;six transmembrane epithelial antigen of the prostate;six-transmembrane epithelial antigen of prostate 1 APPROVED protein-coding ENSG00000164647 11378 05106 604415 REVIEWED 1316015 STEAP2 STEAP family member 2, metalloreductase This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q21.13 84545103 84571097 + 89678936 89704928 + 89841000 89866992 + 61503;1580863;6480464 10613842 12095985;17567994;16609065;15897894;15623366;14702039;12975309;12429817;19196137;20379614;20587517;21139048;21890473;21906983 261729 B3KS24;B5MC02;C9JHX5;C9JLP2;Q6YPB2;Q8NFT2 AACC02000015;ABBA01045841;AC002064;AF455138;AF526382;AK026813;AK092666;AK094568;AK315043;AMYH01017680;AY008443;AY008444;AY358267;CH236949;CH471091;DQ656061;DQ656062;DR005432;NM_001040665;NM_001040666;NM_001244944;NM_001244945;NM_001244946;NM_152999 AAG32147;AAG32148;AAI46342;AAI48825;AAN04080;AAQ08976;AAQ88634;BAG37524;BAG52586;EAL24165;EAW76889;EAW76890;EAW76891;EAW76892;EAW76893;EAW76894;NP_001035755;NP_001035756;NP_001231873;NP_001231874;NP_001231875;NP_694544;Q8NFT2 Hs.489051 1799542;1801198;1802964;1803202;1803204;1803516;1804836;1805730;1806634;1810852;1811154;1816762;1818738;1820132;1820488;1824104;1829698;1831516;1831518;1831936;1833070;1833376;1844590;1844766;1845530;1846182;2069774;2070110;2070112;2070114;2070116;2070118;2070120;2070122;2070124;2070126;2070128;2070130;2070132;2070134;2070136;2070138;2070140;2070142;2070144;2070146;2070148;2070150;2070152;2070154;2070156;2070158;2070160;2070162;2070164;2070166;2070168;2070170;2070172;2070174;2070176;2070178;2070180;2070182;2070184;2070186;2070188;2070190;2070192;2070194;2070196;2070198;2070200;2070202;2070204;2070206;2070208;2070210;2070212;2070214;2070216;2070218;2070220;2070222;2070224;2070226;2070228;2070230;2070232;2070234;2070236;2070238;2070240;2070242;2070244;2070246;2070248;2070250;2070252;2070254;2070256;2070258;2070260;2070262;2070264;2070266;2070268;2070270;2070272;2070274;2070276;2070278;2070280;2070282;2070284;2070286;2070288;2070290;2070292;2070294;2070296;2070298;2070300;2070302;2070304;2070306;2070308;2070310;2070312;2070314;2070316;2070318;2070320;2070322;2070324;2070326;2070328;2070330;2070332;2070334;2070336;2070338;2070340;2070342;2070344;2070346;2070348;2070350;2070352;2070354;2070356;2070358;2070360;2070362;2118705;2171324;2194016;2194018;2194020;2194022;2194024;2194026;2194028;2194030;2194032;2194034;2194036;2194038;2194040;2194042;2194044;2194046;2194048;2194050;2194052;5014051;5022200;5022578;5022651;5037552 D11S2921;D1S1423;D8S2278;D8S2279;ECD00623;ECD01471;ECD02372;ECD02493;ECD02494;ECD02659;ECD03353;ECD03815;ECD04274;ECD06424;ECD06575;ECD09426;ECD10433;ECD11140;ECD11319;ECD13148;ECD15981;ECD16895;ECD16896;ECD17106;ECD17677;ECD17831;ECD23509;ECD23598;ECD23983;ECD24311;L18426;REN106078;REN106246;REN106247;REN106248;REN106249;REN106250;REN106251;REN106252;REN106253;REN106254;REN106255;REN106256;REN106257;REN106258;REN106259;REN106260;REN106261;REN106262;REN106263;REN106264;REN106265;REN106266;REN106267;REN106268;REN106269;REN106270;REN106271;REN106272;REN106273;REN106274;REN106275;REN106276;REN106277;REN106278;REN106279;REN106280;REN106281;REN106282;REN106283;REN106284;REN106285;REN106286;REN106287;REN106288;REN106289;REN106290;REN106291;REN106292;REN106293;REN106294;REN106295;REN106296;REN106297;REN106298;REN106299;REN106300;REN106301;REN106302;REN106303;REN106304;REN106305;REN106306;REN106307;REN106308;REN106309;REN106310;REN106311;REN106312;REN106313;REN106314;REN106315;REN106316;REN106317;REN106318;REN106319;REN106320;REN106321;REN106322;REN106323;REN106324;REN106325;REN106326;REN106327;REN106328;REN106329;REN106330;REN106331;REN106332;REN106333;REN106334;REN106335;REN106336;REN106337;REN106338;REN106339;REN106340;REN106341;REN106342;REN106343;REN106344;REN106345;REN106346;REN106347;REN106348;REN106349;REN106350;REN106351;REN106352;REN106353;REN106354;REN106355;REN106356;REN106357;REN106358;REN106359;REN106360;REN106361;REN106362;REN106363;REN106364;REN106365;REN106366;REN106367;REN106368;REN106369;REN106370;REN106371;REN106372;RH79249;SHGC-52882;stSG614471;stSG614472;stSG614473;stSG614474;stSG614475;stSG614476;stSG614477;stSG614478;stSG614479;stSG614480;stSG614481;stSG614482;stSG614483;stSG614485;stSG614486;stSG614487;stSG614488;stSG614489;stSG614490 IPCA1;PCANAP1;PUMPCn;STAMP1;STMP OTTHUMP00000024959;OTTHUMP00000067572;OTTHUMP00000067573;OTTHUMP00000067574;OTTHUMP00000067575;OTTHUMP00000067576;OTTHUMP00000196964;SixTransMembrane Protein of Prostate 1;metalloreductase STEAP2;prostate cancer associated protein 1;prostate cancer-associated protein 1;protein up-regulated in metastatic prostate cancer;protein upregulated in metastatic prostate cancer;six transmembrane epithelial antigen of prostate 2;six transmembrane epithelial antigen of the prostate 2;six-transmembrane epithelial antigen of prostate 2 APPROVED protein-coding ENSG00000157214 17885 05481 605094 REVIEWED 1352877 STC2 stanniocalcin 2 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008] 5 5 q35.1 172674332 172689112 - 172741726 172756506 - 1580863;2324700;2313895;6480464 15485913;18959458 9723890;9753616;19298603;18492817;18394600;18355956;22503972;17909264;17545519;16303743;16169070;15489334;15486227;15367391;15302935;14702039;12477932;10947959;10450831;10022771;20422456;21963094;23187001;19415750;19582875;19786016;20424473;20619259;20174869;20734150;21906983;19322201 8614 E5RG57;H0YB13;O76061;Q6FHC9 AB012664;ABBA01044022;AC106731;AF031036;AF055460;AF098462;AK027390;AK027663;AK075406;AK095862;AK095891;AMYH01015824;BC000658;BC006352;BC013958;BQ181336;BT019591;CH471062;CR541825;CS070234;NM_003714 AAC27036;AAC97948;AAD01922;AAH00658;AAH06352;AAH13958;AAV38398;ACE87039;ACE87723;BAA33489;BAG51314;BAG51363;BAG52131;BAG53160;CAG46624;CAI93195;EAW61399;EAW61400;EAW61401;NP_003705;O76061 Hs.233160 1679992;1681462;1740431;1740479;1740491;1849125;2177115 D5S2241E;D5S2274E;D5S2286E;D5S2651;RH69946;RH94164;RH99126 STC-2;STCRP OTTHUMP00000161103;OTTHUMP00000223604;STC-related protein;stanniocalcin-2;stanniocalcin-related protein APPROVED protein-coding ENSG00000113739 11374 04717 603665 REVIEWED 1347045 STEAP4 STEAP family member 4 The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011] 7 7 q21.12 87743680 87774145 - 87905744 87936228 - 1580863;6480464 19289123;18430367;18381574;16344560;15897894;12477932;11443137;21468601;19787193;20127040;20382686;20885390;21044749;21287513;21287516;22244520;21718614;21849520;18781797;21933608;21633911 79689 C9JS50;Q687X5 AACC02000015;ABBA01045859;AC003991;AF423422;AF423423;AK026806;AK027807;AK307644;AL832955;AL833044;AL833671;AMYH01017672;BC020600;CH236949;CH471091;CS237169;CS283337;CS300631;DA977808;DB162772;DC333286;NG_028313;NM_001205315;NM_001205316;NM_024636 AAH20600;AAQ04063;AAQ04064;BAB15559;CAH56271;CAJ55791;CAJ90615;CAK32295;EAW76906;EAW76907;NP_001192244;NP_001192245;NP_078912;Q687X5 Hs.521008 1655717;1696428;1710368;1857012;2169233;5022651 AFMa339xa5;D11S2921;SHGC-82451;SHGC-83356;STS-N30680;WI-12106 DKFZp666D049;FLJ23153;STAMP2;TIARP;TNFAIP9 OTTHUMP00000204498;OTTHUMP00000204514;metalloreductase STEAP4;six transmembrane prostate protein 2;six-transmembrane epithelial antigen of prostate 4;sixTransMembrane protein of prostate 2;tumor necrosis factor, alpha-induced protein 9;tumor necrosis-alpha-induced adipose-related protein APPROVED protein-coding ENSG00000127954 21923 11637 611098 REVIEWED 1604195 STH saitohin 17 17 q21.1 41432483 41432869 + 44076616 44077060 + 6480464 18850062;18509094;18396294;18307033;18300012;16909000;16603077;16186110;15474313;15136700;12932819;12913211;12826738;12826737;12477932;12447938;12402275;12032355;7566098;20852909;21769920;21934306;22504418;22187337 246744 Q8IWL8 ABBA01031196;AC010792;AC091628;AC217779;AMYH01008444;AY179170;BC130319;BC130321;CR936218;NG_007398;NM_001007532 AAI30320;AAI30322;AAO03577;NP_001007533;Q8IWL8 Hs.661831 MAPTIT;MGC163191;MGC163193 OTTHUMP00000239121;microtubule-associated protein tau (MAPT) intronic transcript;saitohin protein-coding ENSG00000256762 18839 06142 607067 VALIDATED 1605372 STEAP3 STEAP family member 3, metalloreductase 2 2 2 q14.2 113307446 113349273 + 119697854 119739698 + 119981384 120023228 + 6480464;6907045 19236508;18495927;16381901;15489336;15319436;14702039;12606722;12477932;12095985;11230166;11076863;22624035;20379614;2874839;20587610;21871451;21987572;21139048;21890473;21906983;21963094;21988832;23000965 55240 B8ZZX6;Q8TDP3 ABBA01045927;ABBA01045928;AC016673;AC016736;AF238864;AF262322;AF423424;AK001691;AK024163;AK291608;AL833624;AMYH01010986;AMYH01010987;AY029585;AY082673;AY214461;BC042150;BC095421;BM146930;BX538047;CH471103;NM_001008410;NM_018234;NM_182915 AAH42150;AAH95421;AAK50538;AAL78206;AAM08128;AAM45136;AAO38238;AAQ04065;AAX88963;AAY14872;BAA91839;BAB14842;BAF84297;CAD97986;CAH56204;CAL37421;EAW95209;EAW95210;EAW95211;EAW95212;NP_001008410;NP_060704;NP_878919;Q658P3 Hs.647822 1298113;1676984;1685419;1711060;1712823;2140949;2163309 D2S2254;RH120128;RH98234;RH99327;SHGC-10888;SHGC-54575;SHGC-86162 AHMIO2;STMP3;TSAP6;dudlin-2 1010001D01Rik;OTTHUMP00000162092;OTTHUMP00000162093;OTTHUMP00000203624;OTTHUMP00000203625;STEAP family member 3;dudlin 2;dudulin 2;dudulin-2;hTSAP6;hpHyde;metalloreductase STEAP3;pHyde;six transmembrane prostate protein 3;six-transmembrane epithelial antigen of prostate 3;tumor suppressor pHyde;tumor suppressor-activated pathway protein 6 APPROVED protein-coding ENSG00000115107 24592 10285 609671;615234 VALIDATED 1315668 STIM1 stromal interaction molecule 1 This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 11 11 p15.5 3833509 4071015 + 3876933 4114440 + 1580863;6480464;7240710;7204692 22914293 16005298;11463338;16208375;19433064;19433061;19420366;19327826;19307462;19287379;19260825;19249086;19189966;19185847;19182790;19171672;19107116;19088073;19052075;19019825;18995841;18854159;18845811;18843204;18832420;18802022;18778263;18768920;18644792;18635545;18569867;18542992;18506892;18448669;18430726;18420269;18403424;18337467;18326500;18250319;18249114;18190941;18187424;18166150;17925382;17702753;17684017;17517596;17486119;17360414;17299780;17298947;17283081;17224452;17218358;17158173;17081983;17045966;17020874;16987424;16966422;16906149;16870612;16860747;16807233;16766533;16733527;16537481;16263699;15866891;14582397;12754519;12477932;11983428;11004585;10575208;9377559;8921403;8707854;21499266;20679432;21220420;21321120;20562859;20808796;20587595;20194530;20436167;20375143;20629634;20929812;20534587;22842488;20876309;17905723;18029348;18484746;19111578;19272522;19332491;19403622;19429662;19447651;19487696;19506081;19622747;19626660;19631699;19632184;19694801;19706554;19754898;19765994;19843011;19881501;19897728;19906989;20073506;20736304;20926378;21081754;20976103;21255618;21217057;21239714;21220431;21876174;21193399;21126331;22748319;22939629;23022228;21427704;21540881;21640715;23043102;23184982;21788372;21906591;21724845;21880734;21432868;22110130;22278058;22438918;21790973;22451904;21906983;22031597;22260675;22298778;22384096;22549787;22586105;22246182;22387225;22498042;22592407;23068106;23212906;23272049;23332920;14702039;225862;22904194;22992728;23041196;23049826;23076152;23203806;23261659;23277085;23289723;23320111;23348743;23378028;23395841;23397206;23447534;23458835;23512989;23515871;23572507;23578185;23613525;23625915;21956116;22984609 6786 E9PIQ8;E9PJ19;E9PMB4;E9PN27;E9PNJ4;E9PQJ4;E9PR07;E9PR09;E9PRE4;E9PRZ7;G0XQ39;H0YDB2;Q13586 ABBA01032040;ABBA01032041;ABBA01032042;ABBA01032043;ABBA01032044;ABBA01032045;ABBA01032046;ABBA01032047;AC015689;AC087441;AC090804;AC107970;AK057599;AK098480;AK310510;AK314928;AMYH01003348;BC019905;BC021300;BI820627;BM127091;CH471158;CQ834768;CX873095;HQ317451;NG_016277;NM_001277961;NM_001277962;NM_003156;U52426 AAC51627;AAH21300;ABM86435;ABW03792;ADO20317;CAH05599;EAX02580;EAX02581;NP_001264890;NP_001264891;NP_003147;Q13586 Hs.501735;Hs.657794 1654541;1662831;1666084;1667505;1667606;1721783;1731533;1736838;1737601;1738171;1756363;1980820;2039584;2108531;2119309;2131785;5037552 D11S1044;D11S1251;D11S2347;D11S3193;D11S3801;D11S4403;D8S2279;G09873;G59762;REN61305;REN90816;RH35854;RH36268;RH37425;RH48059;SHGC-143338;STIM1_8654 D11S4896E;GOK;STIM1L;TAM OTTHUMP00000164512;OTTHUMP00000229140;OTTHUMP00000230742;stromal interaction molecule 1 APPROVED protein-coding ENSG00000167323 11386 05803 160565;605921;612783 REVIEWED 1312720 STIL SCL/TAL1 interrupting locus This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p32 47488398 47552406 - 47715811 47779819 - 1580863;6480464;6484113;7240710 8825637;19215732;18829525;18187418;17576815;17460775;17456584;16710414;16344560;16024801;15489334;15107824;14504110;12681356;12531481;12477932;12438740;12199779;11390401;10657125;9372240;8321044;2255914;2209547;2040693;1922059;1311214;20379614;22100914;22020124;21139048;21906983;21963094;22349698;22349705;20301772;22505724 6491 E9PSF2;H0Y702;Q15468;Q5T0C7;Q5T0C8 AA897748;ABBA01050825;ABBA01050826;ABBA01050827;AF349657;AJ131016;AK098445;AK128406;AK307519;AL135960;AL513322;AMYH01000594;BC053615;BC126223;BC136432;BC144089;CH471059;CR749851;DA754072;DB062487;M74558;NG_012126;NM_001048166;NM_003035;Y07540 AAA60550;AAH53615;AAI26224;AAI44090;AAK51418;ADR83293;CAH18699;CAI19730;CAI19731;CAI19732;CAI19733;EAX06872;EAX06873;EAX06874;NP_001041631;NP_003026;Q15468 Hs.525198 2106615;2123925;2157177;2169053;5022322 D11S2560;G34885;RH69175;SHGC-35335;SIL__5416 DKFZp686O09161;MCPH7;SIL OTTHUMP00000009566;OTTHUMP00000009567;OTTHUMP00000009569;OTTHUMP00000231597;SCL-interrupting locus protein;TAL-1-interrupting locus protein APPROVED protein-coding ENSG00000123473 10879 01627 181590;612703 REVIEWED 1346790 STK16P1 serine/threonine kinase 16 pseudogene 1 14 14 14 q21.3 30003046 30004889 + 49213266 49215015 + 50143386 50145229 + 326107 ABBA01018114;AL591767;AMYH01005712;NG_002530 1656335;1687982 RH98671;SHGC-53864 STK16P APPROVED pseudo 19283 INFERRED 733000 STK10 serine/threonine kinase 10 This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008] 5 5 5 q35.1 167501519 167647757 - 171401679 171547951 - 171469074 171615346 - 1580863;6480464 19255442;17192257;16964243;16344560;16175573;15302935;14702039;12639966;12477932;11903060;10199912;20306291;20379614;9278426;10692593;18239682;21905501;21906983;23209304 6793 H0YB71;O94804 AB015718;ABBA01044054;ABBA01044055;ABBA01044056;ABBA01044057;ABBA01044058;ABBA01044059;ABBA01044060;ABBA01044061;AC024561;AC092271;AC113342;AF119894;AI584023;AK022960;AK092814;AK307943;AK313350;AL133081;AMYH01015809;AMYH01015810;AMYH01015811;BC014413;BC070077;BI459912;CH471062;DA507768;DB068209;NM_005990 AAF69648;AAH70077;BAA35073;BAG36152;BAG51143;CAB61400;EAW61439;NP_005981;O94804 Hs.744005 1338393;1340082;1656218;1722845;1732631;1758989;1776989;1780742;1785628;2138314;2167983;2176320;5017697 D5S1383;D5S1960;D5S425;D5S604;G60365;L28383;RH48725;RH79031;SHGC-150661;SHGC-156055;STK10;STS-W58187;bac51876S LOK;PRO2729 OTTHUMP00000223448;lymphocyte-oriented kinase;serine/threonine-protein kinase 10 APPROVED protein-coding ENSG00000072786 11388 06796 603919 REVIEWED 1312198 STIM2 stromal interaction molecule 2 This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009] 4 4 p15.2 26471462 26634907 + 26862313 27027003 + 1580863;6480464;7204692 22914293 11463338;16860747;19433064;19019825;18166150;18160041;17905723;16005298;15489334;15231748;14702039;12477932;11230166;10819331;8889548;22125164;21321120;20172609;20436167;1146333;18484746;19111578;19487696;20379614;20562859;21217057;21383014;21906591;21906983;15840729;21829377;22592407;22477146;23251661 57620 A6H8L7;B3KUB5;E9PGD0;F5GXJ4;H0Y860;H7C5A5;H7C5C6;H7C5K2;Q9P246;R4GMP0;R4GN82;R4GNC5 AB040915;ABBA01032732;ABBA01032733;AC006928;AC106047;AF328905;AK023369;AK096846;AL136577;AMYH01014075;AMYH01014076;AMYH01014077;AMYH01014078;BC015659;BC043604;BC057231;BC136449;BC146661;BC152554;BC171766;BU741823;BX343313;CH471069;NM_001169117;NM_001169118;NM_020860 AAH15659;AAH43604;AAH57231;AAI36450;AAI46662;AAI52555;AAI71766;AAK82337;BAA96006;BAB14545;BAG53377;CAB66512;EAW92853;EAW92854;EAW92855;NP_001162588;NP_001162589;NP_065911;Q9P246 Hs.744950 1644766;1715141;1784988;1847689;2106655;2119762;2156214;2172174;2174787 D4S2857;RH119523;SHGC-112388;SHGC-36198;SHGC-59200;SHGC-59758;SHGC-60033;STIM2__5338;STS-T97323 FLJ39527;KIAA1482 OTTHUMP00000123457;OTTHUMP00000123458;OTTHUMP00000216198;stromal interaction molecule 2 APPROVED protein-coding ENSG00000109689 19205 11609 610841 REVIEWED 1312841 STK11IP serine/threonine kinase 11 interacting protein 2 2 2 q35 214232566 214251145 + 220170840 220189417 + 220462596 220481173 + 6480464 17521700;14702039;12477932;11741830;11572484;20974850;18029348;21903422;21139048;21890473 114790 C9JQV3;E7ERV2;H7C236;H7C2J7;M0QYE5;Q8N1F8 AB067485;ABBA01023838;ABBA01023839;AC009955;AF450267;AK091963;AK295609;AK296632;AK299894;AK300611;AMYH01011509;AMYH01011510;BC014114;BC034051;CH471063;NM_052902 AAH14114;AAH34051;AAL49726;ABM81846;ABM84997;BAB67791;BAG58494;BAG59234;BAG61738;BAG62306;EAW70775;EAW70776;NP_443134;Q8N1F8 Hs.22410 1698876;1798506;1799562;1801418;1802100;1803950;1809002;1809816;1810162;1816264;1816432;1818550;1820452;1822948;1823384;1824298;1825102;1835078;1841956;1843446;1965272;1965274;1965276;1965278;1965280;1965282;1965284;1965286;1965288;1965290;1965292;1965294;1965296;1965298;1965300;1965302;1965304;1965306;1965308;1965310;1965312;1965314;1965316;1965318;1965320;1965322;1965324;1965326;1965328;1965330;1965332;1965334;1965336;1965338;1965340;1965342;1965344;1965346;1965348;1965350;1965352;1965354;1965356;1965358;1965360;1965362;1965364;1965366;1965368;1965370;1965372;1965374;1965376;1965378;1965380;1965382;1965384;1965386;1965388;1965390;1965392;1965394;1965396;1965398;1965400;1965402;1965404;1965406;1965408;1965410;1965412;1965414;1965416;1965418;1965420;1965422;1965424;1965426;1965428;1965430;1965432;1965434;1965436;1965438;1965440;1965442;2214108;2214110;2214112;2214114;2214116;2214118;2214120;2214122;2214124;2214126;2214128;2214130;2214132;2214134;2214136 ECD00091;ECD00633;ECD01583;ECD01932;ECD02889;ECD05484;ECD05900;ECD06073;ECD09174;ECD09258;ECD10337;ECD11301;ECD12562;ECD12782;ECD13247;ECD13652;ECD18692;ECD22181;ECD22932;REN53510;REN53511;REN53512;REN53513;REN53514;REN53515;REN53516;REN53517;REN53518;REN53519;REN53520;REN53521;REN53522;REN53523;REN53524;REN53525;REN53526;REN53527;REN53528;REN53529;REN53530;REN53531;REN53532;REN53533;REN53534;REN53535;REN53536;REN53537;REN53538;REN53539;REN53540;REN53541;REN53542;REN53543;REN53544;REN53545;REN53546;REN53547;REN53548;REN53549;REN53550;REN53551;REN53552;REN53553;REN53554;REN53555;REN53556;REN53557;REN53558;REN53559;REN53560;REN53561;REN53562;REN53563;REN53564;REN53565;REN53566;REN53567;REN53568;REN53569;REN53570;REN53571;REN53572;REN53573;REN53574;REN53575;REN53576;REN53577;REN53578;REN53579;REN53580;REN53581;REN53583;REN53584;REN53585;REN53586;REN53587;REN53588;REN53589;REN53590;REN53591;REN53592;REN53593;REN53594;REN53595;REN53596;RH103005;stSG633114;stSG633115;stSG633116;stSG633117;stSG633118;stSG633119;stSG633120;stSG633121;stSG633122;stSG633123;stSG633124;stSG633125;stSG633126;stSG633128;stSG633129 KIAA1898;LIP1;LKB1IP;STK11IP1 LKB1 interacting protein;LKB1-interacting protein 1;OTTHUMP00000065428;STK11 interacting protein;serine/threonine kinase 11-interacting protein;serine/threonine-protein kinase 11-interacting protein protein-coding ENSG00000144589 19184 06207 607172 VALIDATED 1352725 STK19P serine/threonine kinase 19 pseudogene 6 6 p21.3 32089025 32089939 + 31981167 31981961 + 8132574;2431902;1988494 373159 AL645922;BX679671;CR753845;CR936924;L26262;NG_029245 1648514;2106659;2121053 RH36425;SHGC-12566;STK19__5340 RP2;bPG116M5.10 pseudo 21668 INFERRED 733337 STIP1 stress-induced-phosphoprotein 1 STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009] 11 11 q13 63710163 63728596 + 63953587 63972020 + 1580863;2326084;4892102;5144125;6480464;6907045 16356826;18451092;16610357 17353931;1569099;16130169;19254810;18485364;18095154;17886292;17081983;16916647;16344560;16236267;16100115;15632128;15592455;15489334;14754904;14532270;12477932;12437126;12161444;12093732;11877417;11809754;10786835;10508479;9727490;9261129;9148915;8889548;8125298;1286667;9452498;12887926;19615732;19866486;20159553;20029029;20501939;21170051;19961430;21067243;19875381;22884369;21875754;21470770;17500595;17569659;21832049;22863883;22939629;22360420;19135240;20704274;21784300;21903422;22079093;21044950;22558459;19471022;21139048;21890473;21906983;21963094;22315411;15647277;22053931;22174317;22505724;22729780 10963 F5GXD8;F5H0T1;F5H783;G3XAD8;H0YGI8;P31948 ABBA01003287;ABBA01003288;AK225736;AK291555;AK297319;AMYH01003702;AP005668;BC002987;BC039299;BM679538;BT020010;BT020011;CH471076;CR536512;DA781468;M86752;NM_006819 AAA58682;AAH02987;AAH39299;AAV38813;AAV38814;ABM84221;ABW03547;BAF84244;BAG59782;CAG38750;EAW74196;EAW74197;EAW74198;NP_006810;P31948 Hs.337295 1773364;2106657;2146375 D11S4364;RH11478;STIP1__5339 HOP;IEF-SSP-3521;P60;STI1;STI1L Hsp70/Hsp90-organizing protein;NY-REN-11 antigen;OTTHUMP00000236867;OTTHUMP00000236868;OTTHUMP00000237237;hsc70/Hsp90-organizing protein;renal carcinoma antigen NY-REN-11;stress-induced-phosphoprotein 1;transformation-sensitive protein IEF SSP 3521 APPROVED protein-coding ENSG00000168439 11387 05454 605063 VALIDATED 6481273 STK24-AS1 STK24 antisense RNA 1 100874069 AL356423 APPROVED miscrna 39935 1318548 STK11 serine/threonine kinase 11 This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] 19 19 p13.3 1156798 1179434 + 1205798 1228434 + 1580863;1600678;1600691;1601389;2291943;2291945;2291947;2291944;2291948;2298556;1601391;6480464;6907045;7240710 15509864;14511394;16352671;18381428;16785781;12533684;18245476;12114407;10429654;17098823 10642527;10508479;10408777;10362809;10208439;9837816;9760200;9537235;9428765;9425897;8988175;8889548;12805220;17216128;19615099;19584313;19463221;19414597;19407487;19386264;19351817;19340305;19287990;19250387;19229701;19204826;19177591;19165201;19145097;19029933;18854318;18794113;18687677;18681789;18676680;18495044;18600394;18594528;18483235;18403917;18321849;18303014;18256292;18245474;18199157;18000088;17950019;17928927;17921699;17766436;17711506;17676035;17641416;17637250;17599048;17575127;17573348;17384680;17344591;17319781;17244606;17234589;17212587;17114342;17108107;17026623;17010524;16953221;16927138;16912160;16882735;16822578;16648371;16582077;16580634;16540748;16407837;16407220;16396636;16311241;16287113;15987703;15800014;15774015;15733851;15731909;15617552;15608654;15607222;15561763;15489334;15485651;15331174;15292028;15287029;15231735;15188174;15183188;15121768;15077168;14985505;14976552;14702039;14676191;14668798;14517248;14517247;14511408;12912948;12879020;12847291;12595760;12552571;12489981;12477932;12234250;12218179;12097271;11853558;11741830;11733352;11668633;11445556;11430832;11297520;12753905;22460425;22635025;20400510;20435009;20368693;20207041;21192934;21241696;21396365;20559149;20682687;20722467;21191700;20497868;23207623;20881644;20956321;21048031;18311138;20562859;20623358;20418665;20686846;20489196;20452353;20974850;20818976;22814264;20428811;10642499;16054041;16169070;17884763;18029348;19068194;19170196;19369417;19507030;19513107;19520843;19615732;19622832;19625176;19692168;19724060;19727776;19892943;19908348;20010869;20018878;20020146;20057966;20082862;20193846;20227367;20354225;20357370;20424326;20668229;20864035;20301443;21118512;21816872;21191146;20939895;21102257;22983157;23086944;21450399;21532627;22942091;22988252;23572524;23645358;20423848;21832049;22848740;21572398;21994947;23399955;22487816;22575644;22384927;22168747;22928647;21706049;22118009;22226967;22270359;22318606;22412893;21860411;22005930;22265968;23044421;22543132;23393134;20368287;22939624;23322200;21876548;18854309;22986809;23074285 6794 K7EMR0;K7EP59;K7EQN8;Q15831 AB209553;ABBA01002630;ABBA01002631;AC004221;AC011544;AF032986;AF035625;AF055327;AF217978;AJ844634;AK128518;AK314858;AMYH01009230;AMYH01009231;BC007981;BC019334;BM993274;BQ222023;BU174122;BU739451;CH471139;EF644172;NG_007460;NM_000455;U63333 AAB05809;AAB97833;AAC15742;AAC39527;AAF97257;AAG17221;AAH07981;AAH19334;ABM84158;ABM87560;ABR45718;BAD92790;BAG37374;CAH59749;EAW69538;EAW69539;EAW69540;NP_000446;Q15831 Hs.515005 1701472;1791117 REU1905;RH104368 LKB1;PJS;hLKB1 liver kinase B1;polarization-related protein LKB1;renal carcinoma antigen NY-REN-19;serine/threonine kinase 11 (peutz-jeghers syndrome);serine/threonine-protein kinase 11;serine/threonine-protein kinase LKB1;serine/threonine-protein kinase STK11 APPROVED protein-coding ENSG00000118046 11389 03740 175200;260350;273300;602216 REVIEWED 1347475 STK19 serine/threonine kinase 19 This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 33538714 33548985 + 32047625 32057202 + 31938952 31949223 + 1580863;6480464 14667819;9812991;15986447;14656967;14574404;12477932;9799600;8575831;8132574;8012361;1988494;19913121;20628086;19423540;19851445;20205591;20406964;20438785;21139048;23263863 8859 B7ZLI8;C9J6S8;H0YAS4;H7C4K1;H7C5C0;Q5JP78;Q5ST75 ABBA01038100;ABBA01038101;AF019413;AK302111;AK303438;AK307198;AL049547;AL645922;AL662849;AL844853;AMYH01016223;BC016916;BC110347;BC121128;BC121129;BC143833;BC143835;BX679671;CH471081;CR753822;CR753845;CR759782;CR936924;L26260;L26261;NM_004197;NM_032454;NR_026717;U24578;X77386;X77474 AAA20120;AAA20122;AAA99716;AAB67976;AAI10348;AAI21129;AAI21130;AAI43834;BAG63491;BAG64486;CAA54565;CAA54622;CAA54623;CAB89303;CAB89304;EAX03566;EAX03567;EAX03568;NP_004188;NP_115830;P49842 Hs.654371 1648514;1678425;1694140;1797462;2106659;2121053;2137309;2178940;5022012 AL035178;CYP21A2_2362;DOM3Z;RH11436;RH36425;SHGC-12566;STK19__5340;WI-16314;WI-7720 D6S60;D6S60E;G11;HLA-RP1;MGC117388;RP1 MHC class III HLA-RP1;Nuclear serine/threonine protein kinase;OTTHUMP00000029340;OTTHUMP00000029341;serine/threonine-protein kinase 19 APPROVED protein-coding ENSG00000204344 11398 07281 604977 REVIEWED 1342550 STK17A serine/threonine kinase 17a This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008] 7 7 7 p13 43612574 43656854 + 43589217 43633503 + 43622692 43666978 + 1580863;6480464 9786912;15489334;14702039;12853948;12690205;12477932;21489989;19730683;20677014;21906983;22318606 9263 Q9NZ11;Q9UEE5 AACC02000040;AB011420;ABBA01058186;ABBA01058187;ABBA01058188;AC005189;AC011738;AC093645;AK097170;AMYH01017206;AW183478;BC023508;BC047696;BI461892;CH236951;CH471073;NM_004760 AAH23508;AAH47696;AAP22356;AAS02010;BAA34126;BAG53430;EAL24008;EAW94162;EAW94163;EAW94164;NP_004751;Q9UEE5 Hs.709489 1647256;1675525;1685205;1767080;1856995;2170095;2171034;2185556 D7S2881;RH16267;RH93621;RH98239;SHGC-33787;STS-R46116;STS-R55042;STS-T95619 DRAK1 DAP kinase-related apoptosis-inducing protein kinase 1;OTTHUMP00000159176;death-associated protein kinase-related 1;serine/threonine kinase 17a (apoptosis-inducing);serine/threonine-protein kinase 17A APPROVED protein-coding ENSG00000164543 11395 05288 604726 REVIEWED 1342506 STK16 serine/threonine kinase 16 2 2 2 q35 213879899 213884766 + 219818436 219821873 + 220110192 220115059 + 1580863;6480464 9712705;16344560;16310770;15489334;15146197;14702039;12477932;11741987;10947953;10364453;8125298;16189514;17353931;19060904;16712791;18184589;22318606;19953087;21890473;21900206 8576 B4DPS1;B8ZZI5;B8ZZN3;O75716 AA741170;AB020739;ABBA01023845;AC068946;AF060798;AF203910;AJ005791;AJ010872;AK096954;AK225392;AK225526;AK292694;AK298471;AK302182;AK310793;AL552406;AL565684;AMYH01011506;BC002618;BC007381;BC019915;BC053998;BT019585;CB111662;CH471063;CN268850;CN268939;CR407675;DB190729;NM_001008910;NR_026909 AAC28337;AAG23728;AAH02618;AAH53998;AAV38392;ACE86734;ACE87420;BAB16311;BAF85383;BAG60683;BAG63548;CAA06700;CAA09387;CAG28603;EAW70714;EAW70715;EAW70716;EAW70717;NP_001008910;O75716 Hs.153003 1656335;1686504 RH92661;SHGC-53864 FLJ39635;KRCT;MGC16211;MPSK;PKL12;TSF1 OTTHUMP00000205887;OTTHUMP00000205888;OTTHUMP00000205889;OTTHUMP00000205890;OTTHUMP00000205891;TGF-beta-stimulated factor 1;TSF-1;hPSK;myristoylated and palmitoylated serine/threonine-protein kinase;protein kinase PKL12;protein kinase expressed in day 12 fetal liver;serine/threonine-protein kinase 16;tyrosine-protein kinase STK16 protein-coding ENSG00000115661 11394 05281 604719 VALIDATED 732463 STK17B serine/threonine kinase 17b 2 2 2 q32.3 190754094 190792103 - 196710102 196744520 - 196998307 197036336 - 1580863;6480464 9786912;19638987;19542440;17182616;15489334;12477932;11481038;19730683;20379614;21148796;21832049;23398943;21963094;21988832;23122956;22505724 9262 C9JZJ1;O94768;Q53QE7 AB011421;ABBA01062452;AC114760;AK312865;AMYH01011382;BC016040;BC052561;BM994696;CH471063;CR542210;CR542225;HA637634;HH961858;NM_004226 AAH16040;AAY14982;ABM83182;ABM86384;BAA34127;BAG35717;CAG47006;CAG47021;CAZ39539;CBX51402;EAW70122;NP_004217;O94768 Hs.88297 2108533;2125749;2144063;2165945;5015619;5015959;5022651;5024039;5037552;5037554 D10S2448;D11S2921;D11S3114;D16S325;D8S2279;D8S2282;RH16437;RH65509;SGC34048;STK17B_8918 DRAK2 DAP kinase-related apoptosis-inducing protein kinase 2;OTTHUMP00000163614;OTTHUMP00000205666;death-associated protein kinase-related 2;serine/threonine kinase 17b (apoptosis-inducing);serine/threonine-protein kinase 17B protein-coding ENSG00000081320 11396 05289 604727 VALIDATED 1318050 STK32A serine/threonine kinase 32A 5 5 5 q32 142696707 142845791 + 146594862 146708586 + 146614579 146763768 + 737633;1580863;6480464 12477932 16344560;15489334;15372022;14702039;12471243;19845895;20379614 202374 B7Z9H7;C9JV82;Q8WU08 ABBA01026327;ABBA01026328;AC009189;AC011338;AK094580;AK299099;AK315942;AMYH01015692;BC021666;CH471062;DA110948;DA231845;DR006392;EB386256;NM_001112724;NM_145001 AAH21666;BAG52892;BAG61158;BAH14313;EAW61827;EAW61828;NP_001106195;NP_659438;Q8WU08 Hs.585069 1715175;1780576;1780694;1785306 RH119838;SHGC-111280;bac51266T;bac51629S MGC22688;YANK1 A930015B13Rik;OTTHUMP00000223848;OTTHUMP00000223877;serine/threonine-protein kinase 32A;yet another novel kinase 1 protein-coding ENSG00000169302 28317 15445 VALIDATED 1345827 STK24 serine/threonine kinase 24 The yeast 'Sterile 20' gene (STE20) functions upstream of the mitogen-activated protein kinase (MAPK) cascade. In mammals, protein kinases related to STE20 can be divided into 2 subfamilies based on their structure and regulation. Members of the PAK subfamily (see PAK3; MIM 300142) contain a C-terminal catalytic domain and an N-terminal regulatory domain that has a CDC42 (MIM 116952)-binding domain. In contrast, members of the GCK subfamily (see MAP4K2; MIM 603166), also called the Sps1 subfamily, have an N-terminal catalytic domain and a C-terminal regulatory domain without a CDC42-binding domain. STK24 belongs to the GCK subfamily of STE20-like kinases (Zhou et al., 2000 [PubMed 10644707]).[supplied by OMIM, Mar 2008] 13 13 q31.2-q32.3 97900456 98027397 - 99102455 99229396 - 1580863;6480464 9353338;19328558;19240061;18040775;17081983;17046825;16344560;16314523;16189514;15489334;15304321;12477932;12107159;11991713;10644707;18782753;17353931;20834067;19604147;19782762;20124694;20379614;19855390;21277991;22863883;22939629;19953087;21890473;21985334;22159054;18654987;22229648;22493453;17081986;19322201;20949042;22505724 8428 B4DR80;H0Y630;Q5JV98;Q5JV99;Q5U0E6;Q6P0Y1;Q9Y6E0 ABBA01027139;ABBA01027140;ABBA01027141;ABBA01027142;AF024636;AF083420;AF339826;AK297583;AK299140;AL137249;AL356423;AMYH01005321;BC035578;BC065378;BT019619;CH471085;CR542227;DA386652;DB479387;NM_001032296;NM_003576 AAB82560;AAD42039;AAH35578;AAH65378;AAV38425;ABM81838;BAG59972;BAG61192;CAG47023;EAX08985;EAX08986;EAX08987;NP_001027467;NP_003567;Q9Y6E0 Hs.508514 1738425;1775397;2124317;2125273;2152042;2166448;2171095;2180546;2181163 D13S1172;D13S678E;RH44984;RH45044;RH48394;RH48488;RH65146;RH65722;WI-12444 MST-3;MST3;MST3B;STE20;STK3 OTTHUMP00000018592;OTTHUMP00000018593;OTTHUMP00000018594;STE20-like kinase 3;STE20-like kinase MST3;mammalian STE20-like protein kinase 3;serine/threonine kinase 24 (STE20 homolog, yeast);serine/threonine-protein kinase 24;sterile 20-like kinase 3 APPROVED protein-coding ENSG00000102572 11403 10385 604984 VALIDATED 732933 STK3 serine/threonine kinase 3 This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 8 8 q22.2 99536037 99907085 - 99466859 99954799 - 1580863;6480464;6907045 7665586;8566796;8816758;18640976;18362890;17889669;17538946;17081983;16930133;16510573;15688006;15618521;15489334;12554736;12477932;11964314;11278283;10840030;8816756;8274451;15075335;22590567;19919647;20562859;20231902;21076410;19327996;19525978;19822666;20086174;20145135;20212043;21199877;18328708;19484742;14729613;20360068;21104395;21900206;21944251;22102242;22195963;7566098;21139048;21906983;22318606;17379520;19797269;19962312;17598981;20949042;21988832;22078877;23459937;20090955;22053931;22948661 6788 B3KYA7;E5RFQ9;E5RIM6;Q13188;Q8NBU1 AA370619;ABBA01037538;ABBA01037539;ABBA01037540;ABBA01037541;ABBA01037542;ABBA01037543;ABBA01037544;ABBA01037545;ABBA01037546;AC016877;AK075229;AK131363;AK291837;AK307787;AK312660;AMYH01018918;AMYH01018919;AP002087;AP003355;AP003467;AP003551;BC010640;CH471060;NM_001256312;NM_001256313;NM_006281;U26424;U60206;Z25422 AAB17261;AAC50386;AAH10640;BAC11487;BAF84526;BAG54769;CAA80909;EAW91781;NP_001243241;NP_001243242;NP_006272;Q13188 Hs.492333 1649781;1661527;1678055;1684850;1700286;1711884;2130177;2161873;2166312;2175241 D8S1924;D8S2107;G17283;G49552;RH103761;RH38901;RH64860;SHGC-32998;WI-18654;WI-20184 FLJ90748;KRS1;MST2 MST-2;OTTHUMP00000227170;OTTHUMP00000227171;OTTHUMP00000227172;STE20-like kinase MST2;mammalian STE20-like protein kinase 2;serine/threonine kinase 3 (STE20 homolog, yeast);serine/threonine kinase 3 (Ste20, yeast homolog);serine/threonine-protein kinase 3;serine/threonine-protein kinase Krs-1 APPROVED protein-coding ENSG00000104375 11406 05433 605030 VALIDATED 2303326 STK33P1 serine/threonine kinase 33 pseudogene 1 9 9 q21.33 58677735 58679250 + 88107494 88109009 + 553118 ABBA01034037;AL451132;AMYH01021470;NG_009480 STK33P;STK33ps APPROVED pseudo 26871 INFERRED 1606534 STK31 serine/threonine kinase 31 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 7 7 7 p15.3 23738584 23860866 + 23716416 23838659 + 23749786 23872132 + 6480464 16344560;14702039;12853948;12477932;11279525;20379614;22828137;7566098;19953087 56164 B3KY91;C9JPB1;C9JQW5;E9PRQ0;F8W6E7;Q9BXU1 AA315045;AACC02000007;ABBA01056716;AC003087;AC008176;AF285599;AF332194;AK057271;AK131214;AK292474;AK302689;AMYH01017117;BC033018;BC036476;BC047506;BC059374;CH236948;CH471073;DA533364;DB065148;DB086591;DB089624;DB095141;HC007316;HC044531;NM_001260504;NM_001260505;NM_031414;NM_032944;NR_048542 AAH59374;AAK17193;AAK31978;AAS07416;BAB71405;BAF85163;BAG54753;BAG63918;CBH19463;CBH30595;EAL24249;EAL24250;EAW93805;EAW93806;NP_001247433;NP_001247434;NP_113602;NP_116562;Q9BXU1 Hs.309767 1298159;2119415;5107163;7185558;7186410 D7S673;G17197;G65768 FLJ16102;SGK396;TDRD8 OTTHUMP00000122442;OTTHUMP00000201935;OTTHUMP00000201936;OTTHUMP00000229056;serine/threonine-protein kinase 31;serine/threonine-protein kinase NYD-SPK;sugen kinase 396;tudor domain containing 8 APPROVED protein-coding ENSG00000196335 11407 10427 605790 REVIEWED 1342524 STK25 serine/threonine kinase 25 This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] 2 2 2 q37.3 236104013 236117625 - 242083105 242096707 - 242434432 242448034 - 1302435;729618;1580863;6480464 8887545;9160885 15037601;18364353;17253963;16189514;15815621;15489334;14702039;12477932;17353931;17657516;18782753;19615732;20592472;20098747;21396913;8889548;21832049;22939629;22391949;20360068;21900206;19953087;21139048;21906983;22652780;20949042;22505724;22782892 10494 A8K6Z3;B3KRS6;B7Z9K1;C9J232;C9J6L2;C9J8E8;C9JCC0;C9JDH9;C9JFA1;C9JIH8;C9JJV0;C9JN58;C9K0M6;E7EM58;H7C279;O00506;Q96BA2 ABBA01006048;AC110299;AK092161;AK125895;AK291808;AK291947;AK297374;AK301214;AK302751;AK303719;AK315966;AMYH01011633;BC007852;BC015793;BC091505;BT019961;BU541010;CB250694;CH471063;CR936874;D63780;DA624380;DC353271;DQ093965;HY052981;HY315908;NM_001271977;NM_001271978;NM_001271979;NM_001271980;NM_006374;NR_073530;NR_073531;NR_073532;NR_073533;X99325 AAH07852;AAH15793;AAH91505;AAV38764;AAY14683;AAY88740;ABM84156;ABM87558;BAA20420;BAF84497;BAF84636;BAG52488;BAG59817;BAG62789;BAG63964;BAG64697;BAH14337;CAA67700;CAI59786;EAW71265;EAW71266;NP_001258906;NP_001258907;NP_001258908;NP_001258909;NP_006365;O00506 Hs.516807 1664097;1672072;2108947;2129940;5015961;7185938 D10S16;D15S1477;RH47049;STK25_9122;WI-15981;WI-19287 DKFZp686J1430;SOK1;YSK1 OTTHUMP00000164603;OTTHUMP00000200202;OTTHUMP00000200203;OTTHUMP00000200204;OTTHUMP00000200205;SOK-1;Ste20, yeast homolog;serine/threonine kinase 25 (STE20 homolog, yeast);serine/threonine kinase 25 (Ste20, yeast homolog);serine/threonine-protein kinase 25;ste20-like kinase;ste20/oxidant stress response kinase 1;sterile 20 (oxidant stress response kinase 1; yeast Sps1/Ste20-related kinase 1);sterile 20/oxidant stress-response kinase 1 APPROVED protein-coding ENSG00000115694 11404 03770 602255 REVIEWED 1314640 STK32B serine/threonine kinase 32B 4 4 4 p16.2 4950734 5400385 + 5104428 5553626 + 5053527 5502725 + 1302823;6480464 10700184 19240061;18454448;15489334;14702039;12975309;12477932;12471243;9847074;19389651;20087401;20379614;22939624;23535033 55351 D6R9Y2;E9PCC0;Q9NY57 ABBA01008255;ABBA01008256;ABBA01008257;ABBA01008258;ABBA01008259;AC004664;AC092665;AC096740;AC107395;AJ250839;AK055597;AK292696;AK313846;AL832436;AMYH01013904;AMYH01013905;AMYH01013906;AY358353;BC020281;BC024977;BC038238;BC069203;CH471131;NM_018401 AAH38238;AAQ88719;ABM84640;ABM92171;BAF85385;BAG36575;CAB76471;CAH10653;EAW82416;EAW82417;NP_060871;Q9NY57 Hs.133062 1338285;1652507;1660709;1665503;1698456;1718991;1722139;1753703;1755575;1771663;2120053;2124906;2132010;2138676;2143570;2145996;2168925;2177304;2178532;2184411;5491595 D4S1363;D4S1387;D4S2285;D4S2732;D4S511;D4S527;D4S543;D4S576;D4S842;D4S909;G16708;G34218;G60117;MARC_23858-23860:1025288948:1;RH102777;RH123204;SHGC-107572;SHGC-142429;SHGC-51081;SHGC-57609;SHGC-60305 HSA250839;STK32;STKG6;YANK2 OTTHUMP00000115490;OTTHUMP00000217008;OTTHUMP00000217010;gene for serine/threonine protein kinase;serine/threonine-protein kinase 32B;yet another novel kinase 2 protein-coding ENSG00000152953 14217 15446 PROVISIONAL 1314150 STK32C serine/threonine kinase 32C The protein encoded by this gene is a member of the serine/threonine protein kinase family. The specific function of this kinase is not known. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 127666128 127766505 - 133870986 133971467 - 134020996 134121477 - 1580863;6480464 15489334;15164054;12477932;12471243;20580033;20936779;22939629;21906983 282974 B7Z7J1;F2Z300;H0Y349;H0Y431;Q5SZH1;Q86UX6 ABBA01006178;ABBA01006179;AK057849;AK098366;AK302102;AK308956;AK310725;AL451056;AL512622;AL590105;AMYH01003202;AMYH01003203;AMYH01003204;AMYH01003205;AY098866;BC015792;BC045760;CH471066;NM_173575 AAH15792;AAH45760;AAM21719;BAH13627;EAW49126;EAW49127;EAW49128;EAW49129;NP_775846;Q86UX6 Hs.469002 1651336;1758223;1779594;1782024;2146525;2146604 AF021109;HSC2HF042;RH78525;SHGC-147730;SHGC-149165;SHGC-153568 MGC23665;PKE;RP11-140A10.1;YANK3 OTTHUMP00000020764;OTTHUMP00000020765;OTTHUMP00000020766;PKE protein kinase;protein kinase (PKE);serine/threonine-protein kinase 32C;yet another novel kinase 3 APPROVED protein-coding ENSG00000165752 21332 18119 REVIEWED 734214 STK39 serine threonine kinase 39 This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008] 2 2 q24.3 168518776 168812351 - 168810530 169104105 - 727300;1580863;6480464 10980603 19470686;19414679;19343169;19114657;18787102;18550547;18348195;18270262;17321610;17081983;16964243;16950202;16669787;16263722;14702039;14563843;12740379;11514053;20442269;20555294;12386165;15930150;16530727;19717643;20003416;20379614;20889219;21317537;21178783;21292315;22863883;23034389;21705622;21321328;21139048;21890473;21906983;21442361;22779921 27347 Q6E0B2;Q9UEW8 ABBA01004949;ABBA01004950;ABBA01004951;AC016723;AC017069;AC067940;AF017635;AF030403;AF099989;AK126343;AMYH01011239;BC146813;BF516344;BX647113;BX648046;CH471058;DQ537524;NM_013233 AAB70552;AAC72238;AAD01901;AAI66614;AAY14897;AAY15003;AAY24032;ABG34553;EAX11304;NP_037365;Q9UEW8 Hs.276271 1661642;1678031;1751035;1766015;1784030;1784060;1784302;2119096;2126056;2141839;2167181;5024039 26;D16S325;RH11654;RH68427;RH69463;RH99072;SHGC-104962;SHGC-144147;SHGC-145855;SHGC-149406;SHGC-32064;SHGC-70162 DCHT;DKFZp686K05124;PASK;SPAK OTTHUMP00000165175;STE20/SPS1 homolog;STE20/SPS1-related proline-alanine-rich protein kinase;Ste20-like protein kinase;proline-alanine-rich STE20-related kinase;serine threonine kinase 39 (STE20/SPS1 homolog, yeast);serine/threonine-protein kinase 39;small intestine SPAK-like kinase;ste-20-related kinase APPROVED protein-coding ENSG00000198648 17717 09627 607648 REVIEWED 1315072 STK33 serine/threonine kinase 33 11 11 11 p15.3 8531360 8733124 - 8369994 8572079 - 8413418 8615503 - 6480464 19079261;16176263;15489334;14702039;12477932;11738831;11528127;20935630;18029348;20816195;20571754;21832049;21742770;22318606;22451720 65975 B4DDH2;C9J319;C9J5G1;C9J6X7;C9J8B1;C9JCS6;E9PNP9;F8WAK5;H0YEZ7;Q9BYT3 ABBA01028692;ABBA01028693;AC104360;AC105357;AJ303380;AK092720;AK093251;AK122808;AK293193;AK310754;AL833011;AMYH01003374;AMYH01003375;AP006442;BC031231;BG722074;CH471064;NM_030906 AAH31231;ABM82443;ABW03415;BAC04109;BAG52601;BAG56733;CAC29064;CAH56302;EAW68623;EAW68624;EAW68625;NP_112168;Q9BYT3 Hs.501833 1669331;1686350;1731815;1737811;2111946;2118240;5110913;5121213 D11S3426;D11S431;D11S4725;G34056;RH92437;SGC44503;SHGC-44503;STS-F04004 OTTHUMP00000178934;OTTHUMP00000178935;OTTHUMP00000178936;OTTHUMP00000208016;OTTHUMP00000231432;serine/threonine-protein kinase 33 protein-coding ENSG00000130413 14568 09642 607670 VALIDATED 6480334 STK4-AS1 STK4 antisense RNA 1 (head to head) 20 43592435 43595099 - 14702039 100505826 ABBA01052655;AK057198;AL109839;AMYH01011936;AW205979;DB466740;NR_038341 Hs.196065 APPROVED miscrna ENSG00000227477 43811 VALIDATED 1321037 STK35 serine/threonine kinase 35 The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008] 20 20 20 p13 2146462 2193146 + 2031519 2077201 + 2082528 2129201 + 1580863;6480464 11780052;15761153;15489334;14702039;12477932;11973348;21283756;19756140;16751776;21964068;21890473;19322201 140901 B4DYV9;Q8TDR2 ABBA01053787;AF195026;AK024394;AK026555;AK302629;AK314728;AL040176;AL359916;AMYH01011667;BC017340;BC111573;BC140883;BC140884;CH471133;GQ281297;NM_080836 AAH17340;AAI11574;AAI40884;AAI40885;AAL99353;ACU33925;BAG37270;BAG63871;EAX10603;NP_543026;Q8TDR2 Hs.100057 1652603;1713917;2110965;5107147 A006Y25;D10S409E;G65619;RH119388 CLIK1;STK35L1 CLIK-1;CLP-36 interacting kinase;CLP-36-interacting kinase 1;OTTHUMP00000030006;OTTHUMP00000221578;PDLIM1-interacting kinase 1;serine threonine kinase 35 long form;serine/threonine-protein kinase 35;serine/threonine-protein kinase 35 L1 APPROVED protein-coding ENSG00000125834 16254 11612 609370 REVIEWED 6770604 STMN1P1 stathmin 1 pseudogene 1 12 31868276 31868715 - 100506685 ABBA01031738;AC023157;AMYH01004368;NG_030122 pseudo 44062 INFERRED 6769530 STMN1P2 stathmin 1 pseudogene 2 4 q28.3 138346583 138347018 - 100289663 ABBA01044901;AC097514;AMYH01014557;NG_030216 1847414 SHGC-25171 pseudo 44063 INFERRED 1316442 STK36 serine/threonine kinase 36 This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 2 2 q35 219245053 219275682 + 219536749 219567440 + 6480464;6484113;6907045 14970697;15726444;17089004;18388863;18600476;21746835;17054904;10806483;15489334;15268766;14702039;12477932;12421765;10574462;9557739;17353931;18029348;16344560;22959728 27148 A8MU99;C9J1B8;C9JDA4;H7C2A4;H7C2I3;H7C359;Q9NRP7 AA524236;AA992176;AB033104;ABBA01023858;ABBA01023859;ABBA01023860;ABBA01023861;AC009974;AF200815;AK022692;AL133630;AMYH01011497;BC026158;CH471063;DB062910;NG_029739;NM_001243313;NM_015690 AAF97028;AAH26158;ABM82665;ABM85842;BAA86592;BAB14184;CAB63754;EAW70647;EAW70648;EAW70649;EAW70650;NP_001230242;NP_056505;Q9NRP7 Hs.471404;Hs.712986 1647795;2109899;2166410 G27519;STK36_9532;WI-22153 DKFZp434N0223;FU;KIAA1278 OTTHUMP00000164096;OTTHUMP00000164097;OTTHUMP00000206456;fused homolog;serine/threonine kinase 36, fused homolog;serine/threonine-protein kinase 36 APPROVED protein-coding ENSG00000163482 17209 09631 607652 REVIEWED 1319806 STK38 serine/threonine kinase 38 6 6 p21 36569647 36623225 - 36461669 36515247 - 1580863;6480464 18362890;12493777;15197186;17620599;7761441;19377461;19062280;19058789;19919647;17317633;16135814;15670829;15582665;15489334;15324660;15067004;14661952;14574404;12477932;9774336;9647638;20624913;16884686;17906693;19327996;21262772;17707232;19875983;23022380;23084401;23184937;22142472;21730291;18029348;19167051;21139048;21906983;20360068;21942715;22354994;22505724;22952844 11329 Q15208;Q9UPD3 ABBA01038260;AF034188;AK312559;AMYH01016273;AMYH01016274;BC012085;BC095413;CH471081;CQ826789;NM_007271;Z35102;Z85986 AAD50530;AAH12085;AAH95413;ACE86762;ACE87449;BAG35456;CAA84485;CAG44584;EAX03894;EAX03895;EAX03896;NP_009202;Q15208 Hs.409578 1669708;1712136;1850807;2108949;2128955;2131767;2140149;2141315;2150824;2167685;2170274;5093888 A006N47;A008P39;A009Y21;D6S1158E;D6S1414;G32983;G54118;RH36363;RH46870;RH69775;SGC35468;STK38_9264 NDR;NDR1 NDR1 protein kinase;Ndr Ser/Thr kinase-like protein;OTTHUMP00000016293;nuclear Dbf2-related 1;nuclear Dbf2-related kinase 1;serine threonine protein kinase;serine/threonine-protein kinase 38 protein-coding ENSG00000112079 17847 09511 606964 PROVISIONAL 1353936 STK38L serine/threonine kinase 38 like 12 12 12 p11.23 32542971 32624487 + 27288373 27369795 + 27397078 27478892 + 1580863;6480464 15067004;15197186;15037617;19240061;19062280;16488889;16314523;15582665;15489334;15324660;12477932;12168954;10231032;8889548;17353931;21262772;23084401;23184937;18029348;21906983;17620599;20624913 23012 B4E3J8;F5GY51;F5H0V1;F5H277;F5H5E6;F5H7Z3;H0YGN4;I3L0D0;Q9Y2H1 AB023182;ABBA01068046;AC092827;AC092829;AK291055;AK303373;AK304755;AK304862;AMYH01004351;BC014782;BC028603;BU681056;BX390969;CH471094;CQ826791;NM_015000 AAH28603;ABM82425;ABM85617;BAA76809;BAF83744;BAG65510;BAG65600;BAH13952;CAG44599;EAW96549;EAW96550;EAW96551;NP_055815;Q9Y2H1 Hs.184523 1688813;1782536;1782616;2109901;2134611;2134613;2156331;2191281 A002B24;D12S1875;G19890;MARC_17049-17050:1023803294:1;RH93323;SHGC-106915;SHGC-144746;STK38L_9299 KIAA0965;NDR2 NDR2 protein kinase;OTTHUMP00000240676;nuclear Dbf2-related 2;nuclear Dbf2-related kinase 2;serine/threonine-protein kinase 38-like protein-coding ENSG00000211455 17848 10256 VALIDATED 7205150 STMND1 stathmin domain containing 1 6 p22.3 17102489 17131603 + 20379614 401236 H3BMF7;H3BQB6 ABBA01022196;AK026805;AL138740;AMYH01016116;CH471087;DT932725;DV080442;NM_001190766 EAW55377;H3BQB6;NP_001177695 Hs.677399 stathmin domain-containing protein 1;uncharacterized protein LOC401236 protein-coding ENSG00000230873 44668 VALIDATED 1349002 STN statin 3902853 1177 11416 1344779 STNL statin-like 6669 11417 1323808 STK4 serine/threonine kinase 4 The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008] 20 20 q11.2-q13.2 43028534 43142008 + 43595120 43708594 + 1580863;6480464;6907045 11517310;8274451;21512132;8566796;11805089;16751106;15109305;7665586;8816758;19062280;18986304;17932490;17726016;17538946;17192257;16930133;16510573;15688006;15489334;15345747;15157167;15075335;12942774;12757711;12477932;12384512;12223493;11964314;11864565;11780052;11278782;11278283;9545236;8889548;8702870;8125298;2902784;1655021;20562859;16892067;18029348;18510339;19596235;19822666;19940129;19962960;20379614;22939629;21199877;21228115;19484742;21988832;22053931;22739148;22863277;21212262;21715626;20921231;21730291;14729613;22174160;22294732;21516123;20360068;22112013;19953087;21139048;21906983;19322201;21145461;22619175;17598981;19525978 6789 F5H5B4;Q13043 AB209315;ABBA01052655;ABBA01052656;ABBA01052657;AK027088;AK225326;AK309169;AK315238;AL109839;AL597960;AMYH01011936;AMYH01011937;BC005231;BC015332;BC029511;BC038850;BC039023;BC042861;BC058916;BC065215;BC093768;BM450795;BM455776;BM459914;BQ216721;BQ434275;BU153393;BU429479;BU633556;BU689980;BU902081;CH471077;CR933633;NG_032172;NM_006282;T18610;U18297;U60207;Z25430;Z93016 AAA83254;AAB17262;AAH05231;AAH15332;AAH29511;AAH58916;AAH93768;BAD92552;BAG37665;CAA80917;CAI45939;EAW75882;EAW75883;NP_006273;Q13043 Hs.472838 1299965;1662432;1669954;1752213;1767535;1769755;1778861;2123722;2126222;2131683;2154902;5015879;5017227;5020948;5022200;5037552;5109281;5109362;7183765 AL022266;AL023484;D17S1239;D1S1425;D20S1069;D20S119;D8S2279;G35510;G38154;GDB:314949;L18426;RH18007;RH47839;RH66078;RH68914;SHGC-106156;Z94383;Z94386 DKFZp686A2068;KRS2;MST1;TIIAC;YSK3 MST-1;OTTHUMP00000043418;OTTHUMP00000063226;STE20-like kinase MST1;dJ211D12.2 (serine/threonine kinase 4 (MST1, KRS2));kinase responsive to stress 2;mammalian STE20-like protein kinase 1;mammalian sterile 20-like 1;serine/threonine-protein kinase 4;serine/threonine-protein kinase Krs-2;yeast Ste20-like APPROVED protein-coding ENSG00000101109 11408 05395 604965;614868 REVIEWED 1605028 STK40 serine/threonine kinase 40 1 1 1 p34.3 35080354 35126619 - 36577812 36624072 - 36805225 36851485 - 6480464 18029348;16710414;16381901;15489336;15489334;14702039;13679039;12477932;11230166;11076863;16169070;21832049;19953087 83931 Q96I44 ABBA01023298;ABBA01023299;AC119675;AK000808;AK024504;AK075029;AK075048;AK131560;AL591845;AL834137;AMYH01000495;AMYH01000496;AY198395;BC005169;BC007835;BC008344;CH471059;CQ834750;NM_032017 AAH05169;AAH07835;AAH08344;AAP20040;BAB15794;BAC11361;BAC11371;BAD18694;CAD38852;CAH05590;CAL37398;CAL37413;CAL37475;CAL37648;CAL37730;CAL37831;CAL37847;CAL38152;EAX07368;EAX07369;EAX07370;EAX07371;EAX07372;EAX07373;NP_114406;Q8N2I9 Hs.471768 1755543;2133032;2149186;2167721 A008P26;SHGC-142395;SHGC-74578;SHGC-74593 MGC4796;RP11-268J15.4;SHIK;SgK495 2310004N11Rik;OTTHUMP00000009948;OTTHUMP00000009949;OTTHUMP00000009950;OTTHUMP00000009951;SINK-homologous serine/threonine-protein kinase;Ser/Thr-like kinase;serine/threonine-protein kinase 40;sugen kinase 495 protein-coding ENSG00000196182 21373 11359 609437 PROVISIONAL 733859 STMN4 stathmin-like 4 8 8 8 p21.2 26056724 26078813 - 27149731 27171820 - 27093814 27115903 - 1580863;6480464 15489334;12676564;12477932;11230166;9788875;8125298;16169070;12858178 81551 B7Z2Z7;E5RIR6;E7EVN3;G5EA16;Q9H169 ABBA01005584;AC090150;AJ303455;AK225142;AK294023;AK295329;AK297415;AK309207;AL136568;AMYH01018596;BC011520;BC111001;CH471080;NM_030795 AAH11520;AAI11002;ABM81966;ABM85145;BAH11650;BAH12033;BAH12575;CAB66503;CAC22254;EAW63562;EAW63563;EAW63564;EAW63565;EAW63566;EAW63567;NP_110422;Q9H169 Hs.201058 1647757;2119429 A002J23;RH15982 MGC111012;RB3 OTTHUMP00000125315;OTTHUMP00000225147;OTTHUMP00000225148;OTTHUMP00000225149;OTTHUMP00000225150;stathmin-4;stathmin-like protein B3;stathmin-like-protein RB3 protein-coding ENSG00000015592 16078 18120 PROVISIONAL 69018 STMN3 stathmin-like 3 This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 20 20 20 q13.3 58951675 58965521 - 61741505 61755224 - 62271061 62284780 - 69977;1580863;6480464 9603203 18549247;15489334;14702039;12676564;12477932;11780052;11278715;10655513;9788875;12858178;22577147;16169070;19824884;21297633;16344560;21906983;21852239 50861 B7Z5G4;Q9NZ72 ABBA01021410;ABBA01021411;ABBA01021412;ABBA01021413;ABBA01021414;AF069709;AF069710;AF217796;AK074860;AK094112;AK131326;AK298903;AK310010;AL353715;AMYH01012087;AMYH01012088;BC009381;BC025234;BC032527;BC047671;BC056873;BQ703411;BX449528;CH471077;DA161621;DA181040;DB564475;NM_001276310;NM_015894;NR_075070 AAD12730;AAF35245;AAH09381;AAH25234;ABM84047;ABM87396;BAC11252;BAG52817;BAH12900;EAW75249;EAW75250;NP_001263239;NP_056978;Q9NZ72 Hs.639609 SCLIP OTTHUMP00000031570;SCG10-like protein;SCG10-like-protein;stathmin-3 APPROVED protein-coding ENSG00000197457 15926 16324 608362 REVIEWED 69000 STMN2 stathmin-like 2 This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010] 8 8 q21.13 80685935 80739792 + 80523049 80578410 + 737642;1580863;6480464 12140291 16189514;18996843;18611392;18549247;18452648;18076368;17311410;16712787;16169070;15489334;14702039;12858178;12477932;11882662;11718727;10947801;9525956;9126608;9030585;8622778;15035981;21215777;21273291;15561718;19959466;20621975;20802173;20883670;19081515;11278715;11830198;15200951;18570921;7871435;22939629;21900206;21890473;21906983;22053931;22505724 11075 E5RGX5;Q93045 ABBA01004076;AC016240;AC025599;AI096716;AK091336;AK292737;AK297485;AK297594;AK299500;AK308557;AK309130;AL110174;AMYH01018817;BC006302;BQ069488;BT020034;CH471068;CR456833;D50375;DC319376;NM_001199214;NM_007029;S82024 AAB36428;AAH06302;AAV38837;ABM83645;ABM86894;BAA23326;BAF85426;BAH12589;BAH12622;BAH13053;CAG33114;EAW87063;EAW87064;EAW87065;NP_001186143;NP_008960;Q93045 Hs.521651 1340526;1717353;1735774;1740001;1773764;1777646;5126243 D8S1385E;D8S1388E;D8S1683;D8S1760;RH122167;RH78013;RH78014 FLJ34868;FLJ50995;SCG10;SCGN10;SGC10 OTTHUMP00000226983;OTTHUMP00000226984;OTTHUMP00000227682;neuron-specific growth-associated protein;neuronal growth-associated protein (silencer element);stathmin-2;superior cervical ganglia, neural specific 10;superior cervical ganglion-10 protein APPROVED protein-coding ENSG00000104435 10577 09003 600621 REVIEWED 68960 STMN1 stathmin 1 This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] 1 1 p36.11 26099194 26105955 - 26210677 26233368 - 6480464;6907045 15652749;2917975;8003023;10675326;9880330;9271428;11256614;19569914;19526456;19179443;19048596;19034510;19017487;19012073;18718898;18613117;18555017;18461287;18434595;18305103;18262179;18054374;17874182;17663418;17472732;17455228;17440165;17081983;17029844;17012855;16964243;16909102;16757134;16713569;16710414;16624860;16554300;16495930;16427064;16381901;16258287;16094384;15659612;15489336;15489334;14702039;12860982;12763137;12676564;12644570;12477932;12372625;12242154;22181002;11922601;11870780;11771751;11572331;11415983;11181995;11135364;11076863;10702243;10197448;9788875;8906359;8376365;8325880;8245003;8125092;8002936;7821789;7724523;2760073;2358074;2278968;1957351;1917919;1737801;1445213;12858178;22038457;22378487;22470493;21281784;20675373;16401721;16548883;18563556;19449284;19556289;19779961;20058236;20087351;20110360;20204289;20385220;20399773;20468064;20946355;21319273;20806969;18666697;20819663;22626996;22939629;20657188;20120870;23211296;23383273;21364187;21438138;21768358;22915755;21242118;21139048;21890473;21900206;21906983;22665054;23824909;21809374;22417000;22926856;21489836;20650764;23398456;19738201;22053931;22623428;22810585;23000965;23071542;22480216;22535533;20016921;22169288;22359235;22505724;22902274 3925 A2A2D0;P16949 AB209282;AB451319;AB451448;ABBA01034887;AK054594;AK056768;AK303692;AK311801;AL033528;AMYH01000394;AV714035;BC014353;BC023313;BC028398;BC082228;BC114443;BC114502;BF686314;BG030679;BG493669;BM563894;BQ428400;BQ772197;BX647885;CH471059;D28428;J04991;M31303;NM_001145454;NM_005563;NM_203399;NM_203401;X53305;X94912;Z11566 AAA59971;AAA59980;AAH14353;AAH82228;AAI14444;AAI14503;BAA05794;BAB71277;BAD92519;BAG34744;BAG70133;BAG70262;BAH14020;CAA37391;CAA64398;CAA77660;CAL37732;EAX07854;EAX07855;EAX07856;EAX07857;EAX07858;EAX07859;EAX07860;EAX07861;NP_001138926;NP_005554;NP_981944;NP_981946;P16949 Hs.209983 1744667;1775734;2114469;2173303;2175369;2218064;5015619;5022200;5037552;5115634 A006T10;D11S3114;D1S2416;D1S3529;D8S2279;GDB:549193;L18426;RH70969;STMN1;STMN1_3400 C1orf215;FLJ32206;LAP18;Lag;MGC138869;MGC138870;OP18;PP17;PP19;PR22;SMN OTTHUMP00000008527;OTTHUMP00000008528;OTTHUMP00000008529;OTTHUMP00000008530;OTTHUMP00000008531;OTTHUMP00000230726;leukemia-associated phosphoprotein p18;metablastin;oncoprotein 18;phosphoprotein 19;phosphoprotein p19;prosolin;stathmin;stathmin 1;stathmin 1/oncoprotein 18;transmembrane protein C1orf215 APPROVED protein-coding ENSG00000117632 6510 01047 151442 REVIEWED 1312947 STOM stomatin This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 9 9 q34.1 123141174 123172366 - 124101266 124132582 - 1580863;6480464 1883838;17353931;9642292;18029348;1547348;12130500;18267007;18067507;17961506;17081065;16766530;16344560;15489334;15471860;15164053;15121101;12750157;12643545;12477932;12429719;10562431;10338112;9512664;9243190;9147127;8825639;8500356;8373790;7592848;10604657;11287341;15024010;15071792;16197460;21643969;21919203;8276411;18358815;20583170;20858460;19696025;23182705;17000644;21674799;22939629;16196087;20360068;21139048;21987572;15342556;19738201;21963094;21988832;22623428;23219802;21501885 2040 B4E2V5;P27105 ABBA01016233;AI224884;AK302977;AK304449;AK304518;AK307999;AL040491;AL161784;AL359644;AMYH01021692;AU137947;BC010703;BG701899;BI553227;BI763647;BM451470;BM925356;BP208523;CA447945;CH471090;CR542100;DC368197;GN344119;GN344121;M81635;NM_001270526;NM_001270527;NM_004099;NM_198194;NR_073037;U33931;X60067;X85116 AAA58432;AAC50296;AAH10703;ABM81984;ABM85162;BAG64120;BAG65267;BAG65322;CAA42671;CAA59436;CAG46897;CAY55995;CAY55996;EAW87493;EAW87494;NP_001257455;NP_001257456;NP_004090;NP_937837;P27105 Hs.253903 1660758;1721275;2157442;2161108;2168190;5015619;5022450;5094286 D10S275;D11S3114;D9S1964;G35308;G54688;G59634;RH11801;STS-U33931 BND7;EPB7;EPB72 OTTHUMP00000022024;OTTHUMP00000022025;erythrocyte band 7 integral membrane protein;erythrocyte membrane protein band 7.2 (stomatin);erythrocyte surface protein band 7.2;protein 7.2b APPROVED protein-coding ENSG00000148175 3383 00585 133090 REVIEWED 1350004 STOT salt tolerator 6798 11419 1604956 STON1-GTF2A1L STON1-GTF2A1L readthrough STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010] 2 2 2 p16.3 48636050 48747046 + 48649663 48760246 + 48757064 49003656 + 6480464 12477932;11454741;11381094;11159353;10364255;20967262;11329013;21139048;21151128;22885925 286749 Q3MIM1;Q53S48;Q9Y6Q2 ABBA01075195;ABBA01075196;ABBA01075197;ABBA01075198;AC073082;AC087816;AC091788;AF026169;AK309740;AMYH01010334;AMYH01010335;AMYH01010336;AMYH01010337;AMYH01010338;AMYH01010339;BC101772;BC101774;BC143520;BG191372;BX091338;NG_033050;NM_001198593;NM_001198594;NM_172311 AAD39617;AAI01773;AAI01775;AAI43521;AAY15064;NP_001185522;NP_001185523;NP_758515 Hs.732016 1663360;2111448;2177530;5016328 D2S2548;G16451;RH69506;SGC35210 MGC126821;MGC126823;SALF OTTHUMP00000159452;OTTHUMP00000200508;OTTHUMP00000201180;STON1-GTF2A1L protein;stoned B/TFIIA alpha/beta like factor;stoned B/TFIIA-alpha/beta-like factor APPROVED protein-coding ENSG00000068781 30651 18496 REVIEWED 1347763 STOML1 stomatin (EPB72)-like 1 15 15 15 q24-q25 51152879 51161955 - 72062613 72071688 - 74275559 74286963 - 1580863;6480464 14702039;12477932;10997330;9931417;8125298;15471860;16303743;15489334;19696025;21832049;23082202;21501885 9399 B4DUU5;E7ESC0;H3BPC1;H3BQA9;H3BRP3;H3BST3;H3BVF2;Q4PNR4;Q53HB6;Q9Y6H9 ABBA01038704;AC108137;AF074953;AF111800;AF156557;AF156564;AK075244;AK091531;AK093689;AK222665;AK300799;AK302051;AL109664;AL109665;AL533460;AMYH01006780;BC034379;BC065249;BX464941;CH471082;CQ783352;CR542089;DQ064605;NM_001256672;NM_001256673;NM_001256674;NM_001256675;NM_001256676;NM_001256677;NM_004809;Y16522 AAD42031;AAF06960;AAF23080;AAH34379;AAH65249;AAL39002;AAY68393;BAD96385;BAG52092;BAG62457;BAG63441;CAA76271;CAB52015;CAB52016;CAF86558;CAG46886;EAW77940;EAW77941;EAW77942;EAW77943;EAW77944;EAW77945;NP_001243601;NP_001243602;NP_001243603;NP_001243604;NP_001243605;NP_001243606;NP_004800;Q9UBI4 Hs.194816 1660931;1678321;2108535;2138052;5111461 A008W10;D15S624E;G06258;RH91728;STOML1_8931 FLJ36370;SLP-1;STORP;hUNC-24 EPB72-like protein 1;OTTHUMP00000174947;protein unc-24 homolog;stomatin (EBP72)-like 1;stomatin-like 1;stomatin-like protein 1;stomatin-related protein protein-coding ENSG00000067221 14560 16314 608326 VALIDATED 1602494 STON1 stonin 1 Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 2 2 2 p16.3 48647657 48665958 + 48661267 48679549 + 48757308 48825654 + 6480464 11454741;18029348;14702039;14504226;12477932;11381094;11159353;10364255;16344560;19732400;8889548 11037 B2RB25;H7C1E2;Q9Y6Q2 ABBA01075196;ABBA01075197;AC073082;AF255310;AK023617;AK314464;AL080210;AL700433;AL703296;AMYH01010335;AMYH01010336;AMYH01010337;AMYH01010338;AY026319;BC121063;BC121064;BM974074;CR936807;DB288942;NG_033050;NM_001198595;NM_006873 AAI21064;AAI21065;AAI66659;AAK11719;AAK57559;BAG37072;NP_001185524;NP_006864;Q9Y6Q2 Hs.44385;Hs.732016;Hs.736128 1663360 G16451 DKFZp781K2462;FLJ95267;MGC149803;MGC149804;SALF;SBLF;STN1;STNB1;stoned-b1 OTTHUMP00000201057;OTTHUMP00000201058;stoned B homolog 1;stoned B-like factor;stoned-b1;stonin-1 APPROVED protein-coding ENSG00000243244 17003 16100 605357 REVIEWED 1322361 STOML3 stomatin (EPB72)-like 3 13 13 13 q13.3 20594070 20619005 - 38438062 38462983 - 39540062 39564996 - 1580863;6480464 15489334;15057823;12477932;12122055;20694148;22538188;16344560;8889548;21832049 161003 Q8TAV4 ABBA01021316;ABBA01021317;ABBA01021318;ABBA01021319;AK304159;AK313632;AL445590;AMYH01005046;BC025760;BM982114;CH471075;CQ815089;DB200356;NM_001144033;NM_145286 AAH25760;ABM82602;ABW03405;BAG36391;BAG65047;CAG30025;EAX08609;NP_001137505;NP_660329;Q8TAV4 Hs.327794 Epb7.2l;SRO OTTHUMP00000018290;SLP-3;erythrocyte band 7 integral membrane protein;protein 7.2B;stomatin-like protein 3 protein-coding ENSG00000133115 19420 16315 608327 VALIDATED 1317972 STOML2 stomatin (EPB72)-like 2 9 9 p13.1 35089888 35093154 - 35099893 35103154 - 6480464 11042152;10713127;18641330;18267007;17709317;17342323;17121834;16671055;16533792;16236267;15592455;15489334;15164053;14702039;12477932;11435687;8125298;22623988;19767238;19839737;19944461;20877624;18850735;21220746;22990118;21209152;20186120;16196087;21746876;21139048;21890473;21906983;22081131;22586326;22158085;19322201;20462248;23000965;21832049;22939629;23028053;17676665;21501885;22190034 30968 B4E1K7;F2Z2I8;Q9UJZ1 ABBA01064997;AC004472;AF161458;AF190167;AF282596;AK027405;AK130546;AK223102;AK225114;AK303883;AK307343;AL353795;AMYH01019341;BC002442;BC003025;BC010152;BC014990;CH471071;CQ815083;CQ834374;NM_013442 AAC07983;AAF09142;AAF29073;AAF91466;AAH02442;AAH03025;AAH10152;AAH14990;ABM83603;ABM86846;BAB55091;BAC85377;BAD96822;BAG64819;CAG30023;CAH05402;EAW58394;EAW58395;EAW58396;NP_038470;Q9UJZ1 Hs.3439 1775064;1775727;2132461;2132463;2145215 A002P16;A005W26;G20553;RH41785;RH78365 HSPC108;SLP-2 EPB72-like protein 2;OTTHUMP00000021320;paraprotein target 7;paratarg-7;stomatin-like 2;stomatin-like protein 2;stomatin-like protein 2, mitochondrial protein-coding ENSG00000165283 14559 16310 608292 PROVISIONAL 7243019 STPG2-AS1 STPG2 antisense RNA 1 16344560 101410545 AC034154;DA719663;NR_102713 miscrna 41209 VALIDATED 1349037 STRA13 stimulated by retinoic acid 13 17 17 q25.3 77569868 77574062 - 79976579 79980785 - 737633;6480464 12477932 8839844;17347673;19620631;20416077;20347429;16712791;22510687;22705371;18816836 201254 A8MT69;J3QR01;J3QR35;J3QRS1 ABBA01019660;AC137723;AMYH01008726;BC009571;BC011610;BI837753;BQ648002;CB110145;CS072316;HY110543;NM_001271006;NM_001271007;NM_144998;U95006;U95007 A8MT69;AAB53638;AAB53639;AAH09571;AAH11610;ABM84015;ABM87360;CAI93454;NP_001257935;NP_001257936;NP_659435 Hs.37616 CENP-X;CENPX;D9;FAAP10;MGC14480;MHF2 FANCM-interacting histone fold protein 2;Fanconi anemia-associated polypeptide of 10 kDa;OTTHUMP00000163006;OTTHUMP00000163007;centromere protein X;retinoic acid-inducible gene D9 protein homolog;stimulated by retinoic acid 13 homolog;stimulated by retinoic acid gene 13 protein homolog APPROVED protein-coding ENSG00000169689 11422 18121 615128 VALIDATED 1604701 STRA8 stimulated by retinoic acid 8 This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010] 7 7 7 q33 129654194 129680715 + 134567271 134593784 + 134916731 134943244 + 6480464 12690205;12489526;20378615;18316326;18799751;19369649;19734913;20088251;20670969 346673 Q7Z7C7 AACC02000025;ABBA01001114;ABBA01001115;AC009542;AF513502;AMYH01017955;CH236950;CH471070;NM_182489 AAI41428;AAP47163;BAG73764;EAL24061;EAW83846;NP_872295;Q7Z7C7 Hs.592279 1341361;2173443;7183857 D7S1563;D7S800 OTTHUMP00000207988;stimulated by retinoic acid 8 homolog;stimulated by retinoic acid gene 8 homolog;stimulated by retinoic acid gene 8 protein homolog APPROVED protein-coding ENSG00000146857 30653 18123 609987 REVIEWED 1604566 STON2 stonin 2 This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 14 14 14 q31.1 61776811 61904826 - 80806662 80934680 - 81726994 81893748 - 6480464 11454741;14726597;18029348;18166656;16459302;15489334;12508121;12477932;11381094;21102408;19636924;19732400;21407139;21139048;21906983;14702039;18200045;19738201;22623428;23000965;23251661;19380743 85439 G3V322;H0YJ05;Q8WXE9 AB208948;ABBA01030608;ABBA01030609;ABBA01030610;AF255309;AF380833;AF449430;AK094799;AL121769;AL136040;AMYH01005904;BC069359;BC069389;BC069502;BC069587;BC117493;BC117495;BX648249;CH471061;NM_001256430;NM_033104 AAH69359;AAH69389;AAH69502;AAH69587;AAI17494;AAI17496;AAK57558;AAK76362;AAL47008;ADR83419;BAD92185;EAW81340;EAW81341;NP_001243359;NP_149095;Q8WXE9 Hs.14248 1698598;1768324;1776243;2162701;2179713;5022578;5037552;5093584 A009S17;D1S1423;D8S2279;G09554;G32805;G35749;RH102852;RH45423 STN2;STNB;STNB2 OTTHUMP00000245983;homolog of stoned B;stoned B homolog 2;stonin-2 APPROVED protein-coding ENSG00000140022 30652 10531 608467 VALIDATED 1601982 STOX2 storkhead box 2 4 4 4 q35.1 182155232 182267467 + 185063503 185175869 + 184826509 184938875 + 6480464 14702039;12477932;10718198;20379614;20643876;20360068;23400010 56977 D6RDA5;H0Y8U0;H0YA59;Q9P2F5 AB037813;ABBA01070509;ABBA01070510;ABBA01070511;AC074194;AK001394;AK289840;AL390216;AL512713;AMYH01014764;AMYH01014765;AMYH01014766;BC146754;CH471056;NM_020225 AAI46755;BAA92630;BAF82529;CAB99230;EAX04684;NP_064610;Q9P2F5 Hs.21958;Hs.696657 1643714;1660578;1714981;1760093;1770764;1780406;2128913;2136384 AI449080;D17S1292;D4S2871;G33677;L17909;RH120828;SGC30559;SHGC-107767 DKFZp762K222 OTTHUMP00000218593;storkhead-box protein 2 protein-coding ENSG00000173320 25450 16823 PROVISIONAL 4144673 STRADBP1 STE20-related kinase adaptor beta pseudogene 1 7 7 7 q36.1 144766135 144768208 - 149839920 149842168 - 150209062 150211135 - 12690205;9847074 389599 AACC02000108;ABBA01035185;AC092025;AMYH01018140;NG_005932 EAL24480 1676440 RH75579 ALS2CR2P1;STLK6ps1 pseudo 22478 INFERRED 1604766 STPG1 sperm-tail PG-rich repeat containing 1 1 1 1 p36.11 23010632 23055104 - 24556076 24600536 - 24683489 24741587 - 6480464 14702039;12477932;23028632 90529 H0Y4J3;Q5TH74;Q5TH77 ABBA01059904;AK025957;AK299401;AL031431;AMYH01000369;BC017650;BC034315;BC035061;BC040212;BC047705;BC063891;BI917854;BM922375;CH471134;NM_001199012;NM_001199013;NM_001199014;NM_178122 AAH17650;AAH35061;AAH47705;AAH63891;BAG61385;EAW95124;EAW95125;EAW95126;EAW95127;EAW95128;EAW95129;NP_001185941;NP_001185942;NP_001185943;NP_835223;Q5TH74 Hs.403187 1660541;1733024;2170731;5015861;5022651;7185938 D10S16;D11S2921;D1S1385;SHGC-74398;SHGC-74407 C1orf201;FLJ33340;MAPO2 O(6)-methylguanine-induced apoptosis 2;O6-methylguanine-induced apoptosis 2;OTTHUMP00000003334;OTTHUMP00000003335;UPF0490 protein C1orf201;hypothetical protein LOC90529;sperm-tail PG-rich repeat-containing protein 1 APPROVED protein-coding ENSG00000001460 28070 14273 VALIDATED 1602169 STPG2 sperm-tail PG-rich repeat containing 2 4 4 4 q22.3-q23 95774867 96359061 - 98699058 99283414 - 98480025 99064391 - 12477932;20379614;17207965;23031811 285555 H0YAZ7;Q8N412 ABBA01063650;ABBA01063651;AC018884;AC019077;AC034154;AC073855;AC131949;AMYH01014413;AMYH01014414;BC036870;BX648305;CH471057;NM_174952 AAH36870;ADQ33018;EAX06066;EAX06067;NP_777612;Q8N412 Hs.680226 1341369;1651007;1706760;1728111;1759963;1853806;2121237;2136636;2183816 D4S1637;D4S2443;D4S452;D4S609;G01864;G34281;G63327;SHGC-80847;SHGC4-1702 C4orf37;MGC46496 OTTHUMP00000161627;hypothetical protein LOC285555;sperm-tail PG-rich repeat-containing protein 2;uncharacterized protein C4orf37 APPROVED protein-coding ENSG00000163116 28712 14650 VALIDATED 1321633 STOX1 storkhead box 1 The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 10 10 q22.1 70257387 70322821 + 70587294 70655209 + 6480464;7240710 19079545;17617193;17290274;16344560;15806103;15489334;15164054;14702039;12477932;19577309;20110611;20643876;20400461;22995177;20716964;18029348;21755018;21490791;21988832;22253775;21906983;22993228;22728895;22505724 219736 C9JRL1;Q5I947 ABBA01019591;ABBA01019592;AK057864;AK057891;AK124681;AK127878;AL359844;AL391539;AMYH01002804;AMYH01002805;AW086180;AY842014;AY842015;AY842016;AY842017;BC063627;BC140011;CH471083;DA118241;DQ099680;NG_012975;NM_001130159;NM_001130160;NM_001130161;NM_001130162;NM_152709 AAH63627;AAI40012;AAI68379;AAW48524;AAW48525;AAW48526;AAW48527;AAZ07992;BAB71600;BAB71607;BAC85925;BAC87173;EAW54303;NP_001123631;NP_001123632;NP_001123633;NP_001123634;NP_689922;Q6ZVD7 Hs.37636 1666101;1720771;1758009;2165602 G59359;SHGC-147108;SHGC-52582;WI-18142 C10orf24;PEE4 OTTHUMP00000178955;OTTHUMP00000178956;OTTHUMP00000197175;OTTHUMP00000197176;chromosome 10 open reading frame 24;storkhead-box protein 1;winged-helix domain-containing protein APPROVED protein-coding ENSG00000165730 23508 18579 609397;609404 REVIEWED 2290508 STRCP1 stereocilin pseudogene 1 15 15 q15.3 41778769 41797852 + 43991577 44010460 - 12825070 554225 A6NGW2 ABBA01007024;ABBA01039227;AC011330;AC018512;AMYH01006604;NG_029359 A6NGW2 1654337;1682668;1798892;1799414;1801222;1801296;1801986;1802876;1804096;1805206;1806216;1809362;1811654;1812204;1815582;1816258;1817770;1825312;1825480;1829504;1831452;1833608;1838784;1841178;1842362;1843856;1845674;1855372;1932952;1932954;1932958;1932960;1932962;1932972;1932980;1932982;1932984;1932986;1933188;1933190;1933192;1933194;1933196;1933198;1933200;1933202;1933204;1933206;1933208;1933210;1933212;1933214;1933216;1933218;1933220;1933222;1933224;1933226;1933228;1933230;1933232;1933234;2111260;2113854;2140353;2151961;2157942;2180671;2208894;2208896;2208898;2208902;2208904;2208906;2208908;2208910;2208912;2208914;2208916;2208918;2208920;2208922;2208924;2208926;2208928;2208992;2208994;2208996;2208998;2209000;2209002;2209004;2209006 AB060241;AF021120;Cda0fb12;D15S503;D15S900;ECD00286;ECD00558;ECD01483;ECD01520;ECD01874;ECD02326;ECD02965;ECD03546;ECD04063;ECD05672;ECD06830;ECD07108;ECD08827;ECD09170;ECD09938;ECD13762;ECD13847;ECD15883;ECD16862;ECD17948;ECD20570;ECD21783;ECD22384;ECD23139;ECD24055;REN37308;REN37309;REN37311;REN37312;REN37313;REN37318;REN37322;REN37323;REN37324;REN37325;REN37427;REN37428;REN37429;REN37430;REN37431;REN37432;REN37433;REN37434;REN37435;REN37436;REN37437;REN37438;REN37439;REN37440;REN37441;REN37442;REN37443;REN37444;REN37445;REN37446;REN37447;REN37448;REN37449;REN37450;RH44541;RH68971;SHGC-17612;WI-15193;stSG627804;stSG627805;stSG627806;stSG627809;stSG627810;stSG627811;stSG627812;stSG627813;stSG627814;stSG627815;stSG627816;stSG627817;stSG627818;stSG627819;stSG627820;stSG627821;stSG627822;stSG627881;stSG627882;stSG627883;stSG627884;stSG627885;stSG627886;stSG627889;stSG627890 STRCP APPROVED pseudo 33915 INFERRED 1606991 STRADA STE20-related kinase adaptor alpha The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009] 17 17 q23.3 59133927 59172947 - 61780192 61819330 - 1600678;6480464;6907045;7240710 15509864 12805220;19386264;18854318;18687677;18391951;18256292;17921699;15561763;15183188;14976552;14730349;14702039;14517248;12747765;12477932;16054041;19513107;19892943;20424326;20562859;21860411;14676191;21906983 92335 J3KSA2;J3KSK5;J3QKR7;J3QKU4;J3QQS3;J3QR78;J3QRC1;J3QRH3;J3QS66;Q86YC8;Q9H272 ABBA01035323;ABBA01035324;ABBA01035325;AC015651;AC046185;AF308302;AK074771;AK075005;AK128173;AK293160;AK301331;AL832407;AMYH01008549;AY290821;BC043641;BG339051;BK001542;BQ682133;CH471109;CQ782708;NG_015817;NM_001003786;NM_001003787;NM_001003788;NM_001165969;NM_001165970;NM_153335 AAG48269;AAH43641;AAP42280;BAC11197;BAC11349;BAG56704;BAG62879;CAF85943;CAI46194;DAA01797;EAW94283;EAW94284;EAW94285;EAW94286;EAW94287;EAW94288;EAW94289;EAW94290;NP_001003786;NP_001003787;NP_001003788;NP_001159441;NP_001159442;NP_699166;Q7RTN6 Hs.514402 1664800;1770242;1770244;2118649 A001Z02;G19806;HSC1WH012;SHGC-34035 FLJ90524;LYK5;NY-BR-96;PMSE;STRAD;Stlk STE20-like pseudokinase;STE20-related adapter protein;STE20-related adaptor protein;STE20-related kinase adapter protein alpha;STRAD alpha;protein kinase LYK5;serologically defined breast cancer antigen NY-BR-96 APPROVED protein-coding ENSG00000266173 30172 14332 608626;611087 REVIEWED 1347443 STRA6 stimulated by retinoic acid 6 The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 15 15 q24.1 72258860 72282245 - 74471807 74502046 - 6480464;6484671;6484672;6484694;7240710 21782034;21621639;19700416 11256614;19309693;19213032;19112531;18387951;18316031;17503335;17273977;16344560;14702039;12975309;12477932;9203140;20625434;11358845;20379614;16712791;19500772;21963094;21901792;22665496;22826435 64220 B3KPB8;I3L0M6;I3L1C7;I3L2B6;I3NI08;J3KQI6;Q71RB9 ABBA01060485;AC023545;AF352728;AF352729;AF370419;AK022603;AK056125;AK091152;AK092227;AK291966;AK298921;AK298928;AK299191;AK302932;AK309676;AK310878;AMYH01006792;AY358748;AY359089;BC015881;BC025256;BX537413;CB131492;CH471136;DA700543;DA746408;NG_009207;NM_001142617;NM_001142618;NM_001142619;NM_001142620;NM_001199040;NM_001199041;NM_001199042;NM_022369 AAH15881;AAH25256;AAK30289;AAK30290;AAQ15255;AAQ89108;AAQ89447;BAB14122;BAF84655;BAG51630;BAG52293;BAG52498;BAH12903;BAH12904;BAH12965;BAH13848;CAD97655;EAW99353;EAW99354;EAW99355;EAW99356;NP_001136089;NP_001136090;NP_001136091;NP_001136092;NP_001185969;NP_001185970;NP_001185971;NP_071764;Q9BX79 Hs.24553 2134432;2134521;5015619;5037552 D11S3114;D8S2279;G30105;RH45099 FLJ12541;MCOPCB8;MCOPS9;PP14296 OTTHUMP00000176858;OTTHUMP00000176859;stimulated by retinoic acid 6 homolog;stimulated by retinoic acid gene 6 homolog;stimulated by retinoic acid gene 6 protein homolog APPROVED protein-coding ENSG00000137868 30650 18122 601186;610745 REVIEWED 1342557 STRM striamin 6480464 337940 AF031663 13462 1344167 STRC stereocilin This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008] 15 15 15 q15.3 20841352 20846505 - 41679053 41698290 - 43891761 43910998 - 1599186;1580863;6480464;7240710 11687802 16572171;14702039;12477932;12445334;12324385;10090914;9429146;22147502;20301607;20301780 161497 E7EPM8;E9PBT5;F5GXA4;H7C0F7;H7C2Q6;Q7RTU9 ABBA01000205;ABBA01049634;ABBA01049635;AC011330;AK090757;AK122814;AK124582;AK126721;AK296993;AK308370;AMYH01006600;AMYH01006601;BC129931;BC129932;BK000138;CH471308;NG_011636;NM_153700 AAI29932;AAI29933;BAG59532;DAA00085;EAW50803;NP_714544;Q7RTU9 Hs.657395 1654337;1682668;1798892;1799414;1801222;1802876;1804096;1805206;1806216;1809362;1811654;1812204;1815582;1816258;1817704;1817770;1825480;1831452;1838784;1841178;1842362;1843856;1845674;1855372;1932952;1932954;1932956;1932958;1932960;1932962;1932964;1932966;1932968;1932970;1932972;1932974;1932976;1932978;1932980;1932982;1932984;1932986;1932988;1933200;1933204;1933210;1933220;1933222;1933224;1933234;2113854;2151961;2180671;2208900;2208910;2208912;2209000;5015961;5016781;5016851;5022578 AB060241;AF021120;Cda0fb12;D15S1477;D15S900;D1S1423;ECD00286;ECD00558;ECD01483;ECD02326;ECD02965;ECD03546;ECD04063;ECD05672;ECD06830;ECD07108;ECD08827;ECD09170;ECD09904;ECD09938;ECD13847;ECD16862;ECD20570;ECD21783;ECD22384;ECD23139;ECD24055;REN37308;REN37309;REN37310;REN37311;REN37312;REN37313;REN37314;REN37315;REN37316;REN37317;REN37318;REN37319;REN37320;REN37321;REN37322;REN37323;REN37324;REN37325;REN37326;REN37433;REN37435;REN37438;REN37443;REN37444;REN37445;REN37450;RH68971;RH80031;SHGC-17612;SHGC-67307;stSG627808;stSG627813;stSG627814;stSG627885 DFNB16;MGC156147 OTTHUMP00000066274;stereocilin APPROVED protein-coding ENSG00000242866 16035 08403 603720;606440 REVIEWED 1350818 STRADB STE20-related kinase adaptor beta This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 2 2 2 q33.1 196068337 196097512 + 202024637 202053819 + 202316392 202345574 + 1580863;6480464 14676191;14517248;16879967;16756488;15815621;15489334;14702039;14511394;12574163;12477932;12048196;11161814;20562859;16054041;18624398;19322201 55437 C9JSU7;F8WCQ7;H7C3S5;Q9C0K7 AB038950;ABBA01062541;ABBA01062542;AC007282;AF116618;AK024720;AK027637;AK290457;AMYH01011403;AY093697;BC008302;BC090871;BG110753;CH471063;NG_029572;NM_001206864;NM_018571;W74591 AAF71042;AAH08302;AAH90871;AAM19143;AAY14692;ABM84614;ABM84615;ABM87518;ABM87864;ABW03586;ABW03587;BAB32500;BAB55254;BAF83146;EAW70273;EAW70274;EAW70275;EAW70276;NP_001193793;NP_061041;Q9C0K7 Hs.652338 1676440;1680711;1682896;1695584;1847621;2120480 Bda71b04;G19623;RH66845;RH75579;SHGC-68839;WI-14342 ALS2CR2;CALS-21;ILPIP;ILPIPA;MGC102916;PAPK;PRO1038 ILP-interacting protein ILPIPA;OTTHUMP00000163729;OTTHUMP00000206592;OTTHUMP00000206614;STE20-related kinase adapter protein beta;STRAD beta;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein;pseudokinase ALS2CR2 APPROVED protein-coding ENSG00000082146 13205 09546 607333 REVIEWED 1322398 STRAP serine/threonine kinase receptor associated protein 12 12 p12.3 15926555 15947679 + 16035288 16056412 + 1581429;6480464;6484113 16778189 21148321;17353931;17984321;17316412;17314099;17023415;16344560;16251192;16236267;16159890;15848170;15761153;15489334;12477932;11355021;11230166;11042152;10757800;10646843;10049359;9856985;12975319;15761148;16014633;16169070;18833288;19880523;20144149;18029348;22863883;22990118;23221635;22939629;21502811;19928837;21139048;21890473;21906983;21963094;17916563;21628590;22362889;20360068;21081666;22118674;19836239;22190034;22797925 11171 B0AZV0;B4DNJ6;F5H1G1;H0YH33;Q9Y3F4 AB024327;ABBA01067895;AC022073;AF161496;AJ010025;AK297942;AK312295;AK315891;AL136691;AMYH01004304;AY049776;BC000162;BC062306;BT020044;BT020045;CH471094;DA666505;NM_007178 AAF29111;AAH00162;AAH62306;AAL15433;AAV38847;AAV38848;ABM81877;ABM85039;BAA75544;BAF98782;BAG35222;BAG60258;CAB38041;CAB66626;EAW96356;NP_009109;Q9Y3F4 Hs.743971 1739159;1740109;1848169 A003B47;D12S1364;D12S1575 MAWD;PT-WD;UNRIP MAP activator with WD repeats;OTTHUMP00000239479;OTTHUMP00000239480;WD-40 repeat protein PT-WD;serine-threonine kinase receptor-associated protein;unr-interacting protein protein-coding ENSG00000023734 30796 05816 605986 VALIDATED 1352738 STRBP spermatid perinuclear RNA binding protein 9 9 9 q33.3 96532171 96615626 - 124927139 125070664 - 125883899 126030855 - 1580863;6480464 22391137;21145461;22586326;11256614;16381901;16189514;15489336;15489334;15164053;14702039;12477932;11336498;11230166;11076863;10684936;9674995;7744952;7519613;22939629;22178446;21890473;21628590;19001729 55342 E9PKQ0;H0YC91;H0YD00;H0YD70;Q5JPA5;Q96SI9 ABBA01043719;ABBA01043720;ABBA01043721;ABBA01043722;AF333337;AI986141;AK002169;AK024285;AK025613;AK027890;AL136866;AL365338;AL365504;AL833947;AL834150;AMYH01021697;AMYH01021698;AMYH01021699;BC002693;BC017732;BC108731;CH471090;NM_001171137;NM_018387;NR_033234 AAH02693;AAH17732;AAI08732;AAK20832;BAA92120;BAB14873;BAB55434;CAB66800;CAI46213;CAI46219;CAL37906;EAW87563;EAW87564;EAW87565;EAW87566;NP_001164608;NP_060857;Q96SI9 Hs.287659;Hs.694157 1671298;1697930;1787174;2146824 D9S1995;RH102494;SHGC-172283;SHGC-34779 DKFZp434N214;FLJ11307;FLJ14223;FLJ14984;FLJ21960;ILF3L;MGC21529;MGC3405;SPNR;p74 OTTHUMP00000022084;OTTHUMP00000022085;interleukin enhancer binding factor 3-like;spermatid perinuclear RNA-binding protein protein-coding ENSG00000165209 16462 10257 611138 VALIDATED 1344174 STSP1 steroid sulfatase (microsomal) pseudogene 1 Y Y Y q11 4649180 4649910 + 16172647 16173377 + 17659089 17688171 + 12815422;3203382 6803 ABBA01032018;ABBA01032019;ABBA01032020;AC006382;M23946;NG_001197 1683896;2188477;2188485;2188843;5022885;5115636;5115638 G65853;G66432;G66437;RH38671;STSP-3;STSP-4;STSP-5 STS-Y;STSP APPROVED pseudo 11426 VALIDATED 1344527 STRIP2 striatin interacting protein 2 7 7 7 q32.1 123871017 123924972 + 128861536 128915473 + 129074274 129128240 + 6480464 16381901;16344560;15489336;15489334;12588993;12477932;11076863;10574461;18782753;19615732;21832049;19156129;21890473;22298706;22782902 57464 Q9ULQ0 AACC02000035;AB032996;ABBA01057635;AC009244;AK290165;AK302339;AMYH01017929;AMYH01017930;BC019064;CH236950;CH471070;DA409007;NM_001134336;NM_020704 AAH19064;BAA86484;BAF82854;BAH13679;CAL37497;CAL37822;CAL37838;CAL38325;EAL24101;EAW83719;EAW83720;NP_001127808;NP_065755;Q9ULQ0 Hs.489988 1658119;1668858;1678525;1707530;2136029;2182822 GDB:4585005;GDB:4585689;RH93307;SHGC-32481;SHGC-84574;STS-AA011441 FAM40B;FAR11B FAR11 factor arrest 11 homolog B;OTTHUMP00000212366;OTTHUMP00000212367;family with sequence similarity 40, member B;homolog of yeast FAR11 protein 2;hypothetical protein LOC57464;protein FAM40B;striatin-interacting protein 2 APPROVED protein-coding ENSG00000128578 22209 16880 VALIDATED 1352338 STRIP1 striatin interacting protein 1 This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 1 1 1 p13.3 108824240 108844257 + 110378764 110398786 + 110574199 110597263 + 6480464 15302935;17081983;16964243;16710414;15489334;14702039;12588993;12477932;11214970;18782753;17353931;19615732;22939629;23277359;19156129;20360068;21987572;21139048;21906983;21561862;21834987;22298706;22782902 85369 Q5VSL9;Q8WUN4 AB051548;ABBA01068385;AK027649;AK098023;AK125054;AK291059;AL160006;AL772411;AL834196;AMYH01000940;BC019919;BC032644;BC040142;BC067239;BC094786;BC119814;BC121793;CB960147;CH471122;DB460380;NM_001270768;NM_033088;NR_073071 AAH19919;AAH32644;AAH94786;AAI19815;AAI21794;BAB21852;BAB55265;BAC86034;BAF83748;CAH56368;CAH70967;CAH70968;EAW56428;EAW56429;NP_001257697;NP_149079;Q5VSL9 Hs.584996 1644143;1692088;1715231;1715921;2134554;2142005;2184200 AL033684;D1S1844E;D1S2543;RH119866;RH122695;RH47454;SHGC-75284 FAM40A;FAR11A;FLJ14743;KIAA1761;MGC148091;RP4-773N10.1 6330569M22Rik;FAR11 factor arrest 11 homolog A;OTTHUMP00000013366;OTTHUMP00000013367;family with sequence similarity 40, member A;homolog of yeast FAR11 protein 1;hypothetical protein LOC85369;protein FAM40A;striatin-interacting protein 1 APPROVED protein-coding ENSG00000143093 25916 REVIEWED 736385 STRN striatin, calmodulin binding protein 2 2 2 p22.2 36916520 37034632 - 36928976 37047119 - 37064841 37193615 - 70027;1580863;2311293;6480464 8769426;16351572 9693043;19165527;19023099;18571342;17975119;15815621;15569929;15489334;15231748;12477932;12153137;11707266;10681496;18782753;17353931;22889411;10748158;17540176;18029348;18502210;19615732;21076409;22939629;22990118;23277359;19156129;20360068;21139048;21890473;21985334;19322201 6801 O43815;Q3B874 ABBA01074968;ABBA01074969;ABBA01074970;AC007382;AC007404;AJ223814;AK026934;AK307836;AMYH01010255;BC015406;BC036416;BC106878;BC106879;CH471053;NM_003162 AAF66162;AAI06879;AAI06880;AAY24273;CAA11560;EAX00414;NP_003153;O43815 Hs.127486 1341743;1658934;1662925;1664582;1722547;1740103;1849277;2108537;2116982;2138415;2150951;2156887;5092842 A004G18;A006J38;D2S1654E;D2S2135;D2S2186;G16360;G32364;G60201;RH45772;RH69347;RH69885;SHGC-36905;STRN_8656 MGC125642;SG2NA OTTHUMP00000126951;striatin;striatin, calmodulin-binding protein protein-coding 11424 18124 614765 VALIDATED 737101 STRN3 striatin, calmodulin binding protein 3 14 14 14 q13-q21 11228456 11361095 - 30432756 30565358 - 31363005 31495607 - 1580863;6480464 10748158;7910562;18029348;16964243;16396496;16344560;15302935;12477932;11319234;10681496;7864889;18782753;17353931;11251078;11570823;17540176;18434427;18502210;19615732;22863883;22990118;22939629;19156129;20360068;21890473;21906983;19322201 29966 G3V340;G3V3G7;H0YJT2;H0YJZ4;Q13033 AA572712;ABBA01061405;ABBA01061406;ABBA01061407;ABBA01061408;AF243424;AK290229;AK314041;AL049830;AL121808;AMYH01005638;AMYH01005639;AW070834;BC126221;BC132673;BC143933;BG572065;BM453981;CA774504;CH471078;DA854600;NM_001083893;NM_014574;U17989 AAB81551;AAF81201;AAI26222;AAI32674;BAF82918;BAG36750;EAW65959;EAW65960;EAW65961;NP_001077362;NP_055389;Q13033 Hs.401843 1656037;1670313;1685826;1707036;1731621;1731623;1732719;1769328;2115863;2126162;2145317 D14S175;D14S176;D14S558;D14S569;G35594;G35940;RH47070;RH64942;SGC31556;SHGC-64093;SHGC-81030 SG2NA OTTHUMP00000178783;OTTHUMP00000244078;cell cycle S/G2 nuclear autoantigen;cell cycle autoantigen SG2NA;nuclear autoantigen;s/G2 antigen;striatin-3 protein-coding ENSG00000196792 15720 11613 614766 VALIDATED 1315983 STRN4 striatin, calmodulin binding protein 4 19 19 19 q13.2 44026298 44053250 - 51914608 51941560 - 47222768 47249720 - 1580863;6480464 10748158;18758461;16344560;15489334;14702039;12477932;8125298;18782753;17353931;16169070;11707266;18502210;19615732;20332261;19913121;20628086;23277359;22939629;19156129;20360068;22863883;22990118;22797925 29888 B4DQH7;F5GYK2;F8VYA6;M0QXN2;M0QYS2;M0QZM0;M0R0P4;M0R0W8;M0R2A7;M0R317;Q59GV6;Q9NRL3;R4GN16 AB209003;ABBA01040985;AC008622;AC008635;AF212940;AK056294;AK092913;AK225493;AK297637;AK298804;AK308813;AMYH01009870;BC004910;BC014278;BC034604;CH471126;DA510367;NM_001039877;NM_013403 AAF29527;AAH04910;AAH34604;BAD92240;BAG51668;BAG60009;BAG60939;EAW57442;EAW57443;NP_001034966;NP_037535;Q9NRL3 Hs.631590 2144217;2172008;5022651 A006X06;D11S2921;RH11878 FLJ35594;ZIN;zinedin striatin-4 protein-coding ENSG00000090372 15721 18125 614767 VALIDATED 735809 STS steroid sulfatase (microsomal), isozyme S The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). [provided by RefSeq, Jul 2008] X X p22.32 7147472 7282682 + 7137472 7272682 + 1601393;1601402;1300048;1580863;6480464;6893583;6907045;7240710 8539776;2576297;21693170 2668275;9252398;6957717;19453261;19429462;19347708;19200188;19124506;18937300;18817841;18723074;18467089;18413370;18343103;18249534;18180093;17601726;17481887;17454161;17426092;17415442;16837617;16556483;16467490;16399357;16344560;16084891;15489334;15355916;15302278;15152080;15056284;15009711;14969586;14556660;14507642;12657638;12477932;10844566;10679952;8889548;6948769;3471087;3464600;3203382;3165728;3034252;3032454;2765556;2065092;1539590;12231117;11996939;11886493;11844872;15962010;19551860;19598235;20149601;20151319;20214802;20236202;20814163;20862695;21530180;23122578;21073915;21255266;21945601 412 P08842;Q0W975 ABBA01029224;ABBA01029225;ABBA01029226;ABBA01029227;ABBA01029228;ABBA01029229;ABBA01029230;ABBA01029231;ABBA01029232;ABBA01029233;ABBA01029234;AC005704;AC112651;AK314034;AL133910;AM072428;AM072429;AM282551;AM282552;AM282553;AM282554;AMYH01022057;AMYH01022058;AU135967;AU137602;AU137974;AU138059;BC075030;BF194867;CB250477;CH471074;FM209047;H00840;J04964;M16505;M17591;M23556;M23945;NG_021472;NM_000351 AAA60596;AAA60597;AAA60598;AAA60599;AAH75030;BAG36744;CAJ21479;CAJ21480;CAK54338;CAK54339;CAK54340;CAK54341;CAR64266;EAW98749;NP_000342;P08842 Hs.522578;Hs.700558;Hs.700559;Hs.740067 1648716;1656902;1702468;1702944;1714825;1728905;1733438;1740315;1740317;1753305;1787334;1857795;2116315;2117556;2145199;2161154 DXS6767;DXS7434E;DXS7500;DXS7964;DXS7965;G42690;GDB:187673;GDB:293965;RH120079;RH36507;SHGC-154461;SHGC-81735;STS-M16505;STS-N23221;STS-R67209;WI-14685 ARSC;ARSC1;ASC;ES;SSDD;XLI OTTHUMP00000022868;arylsulfatase C;estrone sulfatase;steroid sulfatase;steryl-sulfatase;steryl-sulfate sulfohydrolase APPROVED protein-coding ENSG00000101846 11425 02389 300747;308100 REVIEWED 1342989 STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 11 11 11 q23.3 122623051 122651590 + 124967967 124996168 + 125462739 125491280 + 1300198;1580863;6480464;6907045 8838310 12887896;19167329;15835887;12477932;10234787;8941377;8634329;16169070;21520112;22157935;20639865;21139048;21890473;21903422;21906983;21987572;19322201;21926974;21963094;23000965;22268729;16344560;23453885;23606741;8889548 3703 E9PI32;E9PIJ8;E9PN73;E9PNQ1;H0YET6;P46977 ABBA01031239;ABBA01031240;AK130548;AK290040;AK290657;AK295892;AK308902;AMYH01004108;AP001132;AP001494;BC020965;BC048348;BE503634;BM667548;BT007100;BX649102;CH471065;CQ834714;DA577274;L38961;L47337;NM_001278503;NM_001278504;NM_152713 AAB05994;AAH20965;AAH48348;AAL77539;AAP35764;BAF82729;BAF83346;BAG58686;CAH05572;EAW67647;NP_001265432;NP_001265433;NP_689926;P46977 Hs.504237 1685121;2120380;2120382;2186261;2191169;5111058 A001U15;D11S4593;G19658;MARC_15709-15710:1013524713:1;RH92949;STS-R68805 FLJ27038;ITM1;MGC9042;STT3-A;TMC B5;OTTHUMP00000231293;OTTHUMP00000231294;OTTHUMP00000231295;STT3, subunit of the oligosaccharyltransferase complex, homolog A;STT3A, cataylic subunit of the oligosaccharyltransferase complex;dolichyl-diphosphooligosaccharide protein glycotransferase;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A;integral membrane protein 1;integral transmembrane protein 1;oligosaccharyl transferase subunit STT3A;transmembrane conserved;transmembrane protein TMC APPROVED protein-coding 6172 03086 601134 VALIDATED 5133079 STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring syntaxin 16 (STX16) and aminopeptidase-like 1 (NPEPL1) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011] 20 q 57226309 57290900 + 20967262 100534593 H3BU86 AB209296;ABBA01005970;ABBA01005971;ABBA01005972;ABBA01005973;ABBA01005974;ABBA01005975;AL050327;AL139349;AMYH01012021;AMYH01012022;NR_037945 BAD92533 Hs.654868 APPROVED miscrna ENSG00000254995 41993 VALIDATED 1353548 STX10 syntaxin 10 This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] 19 19 19 p13.2 13145623 13151385 - 13116224 13121987 - 13255224 13260987 - 1580863;6480464 9446797;16154903;15878329;15489334;12477932;18195106;21139048;22145905;10080545;16341674 8677 F6RTM7;K7EIY4;K7EJ05;K7EK75;K7ELY2;K7EPP9;K7EQ84;O60499;Q5U8S2 ABBA01029753;AC011446;AF035531;AMYH01009503;AY778966;BC017237;BC095459;BM830816;BM847745;CD364936;CH471106;CR457110;NM_001271609;NM_001271610;NM_001271611;NM_003765 AAC05087;AAH17237;AAV48594;CAG33391;EAW84356;EAW84357;NP_001258538;NP_001258539;NP_001258540;NP_003756;O60499 Hs.43812 2110927;2144724;5125009 D19S383E;RH99286;STS-N26520 SYN10;hsyn10 syntaxin-10 protein-coding 11428 04791 603765 REVIEWED 1314629 STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase STUB1, or CHIP, is a ubiquitin ligase/cochaperone that participates in protein quality control by targeting a broad range of chaperone protein substrates for degradation (Min et al., 2008 [PubMed 18411298]).[supplied by OMIM, Jul 2009] 16 16 p13.3 670116 672769 + 730115 732768 + 6480464;6907045 20413784;22543587;22492994;22535373;11146634;15001357;16809764;18678647;21268072;21325980;21775628;22254155;22350919;22734001;22824801;10330192;16307917;11146632;15781469;16280320;19362296;19198599;19196961;19165527;19103148;19098309;18988734;18955503;18784277;18655187;18436529;18411298;18313385;18094050;17963781;17962192;17666403;17545168;17324930;17304350;17157513;17127076;17081983;16964243;16831871;16725394;16720573;16293251;16207813;16169850;16111477;16037132;15911628;15761032;15489334;15466472;15358145;15302935;15215316;15107424;15046863;14962978;14701756;14612456;12574167;12559985;12477932;12200376;12150907;11805346;11557750;11157797;9610721;18485199;17873020;18223694;18292230;19011619;18541707;11676916;16169070;15708501;15189447;15761153;16275660;17178836;17209571;17512523;17595347;18042044;18718056;19483080;19524548;19536328;19648119;19892702;19940151;20146531;20618441;16712791;20151404;20947504;16038411;16135753;16621797;16714300;16740632;20029029;20661446;15254225;15447663;15525661;15538384;15611333;16682404;20924358;20959453;21124777;21220432;11743028;20974249;21272160;12239347;19713937;19875381;23109339;23134341;23237806;23256568;23271055;23322406;23344957;21454478;17239458;19465479;19478201;20811636;21358815;23455922;23493285;23686137;23729439;14532270;22863883;22939629;20677910;15198682;21293491;17317785;21767636;21855799;21911421;19237536;19240029;19706771;19818709;19913553;20704274;21549100;21710689;17875712;18818696;21139048;22427670;22433856;15456869;15694383;19471022;21793045;22090276;22038067;18457437;19056735;19306926;20349136;20466727;20588253;20675402;20729196;20943656;20947508;20974815;21157430;21209460;21518764;21898230;21942715;21995445;22101235;22118674;22128174;12837759;15936278;18388150;19406989;21044950;21860411;22271573;22842904;14532117;16895519;20724525;21625540;21652633;22551455;19153604;21360678;21988832;22895543;23410750;23412384;23431407;23482560;23554879;23560854;23629654;22190034;22190037;22407479 10273 H3BS86;H3BTA3;H3BUD0;Q9UNE7 ABBA01030356;ABBA01030357;AE006464;AF039689;AF129085;AF217968;AF432221;AMYH01006999;BC007545;BC017178;BC022788;BC063617;CB145452;CH471112;FB775518;NM_005861;Z92544 AAC18038;AAD33400;AAG17211;AAH07545;AAH17178;AAH22788;AAH63617;AAK61242;AAL99927;ABM84111;ABM87501;CAV30716;EAW85756;EAW85757;EAW85758;NP_005852;Q9UNE7 Hs.592081 1680637;2132198 IB740;RH15604 CHIP;HSPABP2;NY-CO-7;SDCCAG7;UBOX1 CLL-associated antigen KW-8;E3 ubiquitin-protein ligase CHIP;OTTHUMP00000149944;STIP1 homology and U box-containing protein 1;antigen NY-CO-7;carboxy terminus of Hsp70-interacting protein;heat shock protein A binding protein 2 (c-terminal);serologically defined colon cancer antigen 7 APPROVED protein-coding ENSG00000103266 11427 06232 607207 VALIDATED 1606939 STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) The SIMP protein contains a highly immunogenic minor histocompatibility antigen epitope of 9 amino acids, B6(dom1). Like ITM1 (MIM 601134), SIMP is homologous to yeast STT3, an oligosaccharyltransferase essential for cell proliferation (McBride et al., 2002 [PubMed 12439619]).[supplied by OMIM, Mar 2008] 3 3 3 p23 31512441 31615151 + 31549495 31652560 + 31574491 31677556 + 6480464;6907045 17081983;19167329;16303743;15835887;15489334;14702039;12887896;12477932;12439619;20379614;22939629;18029348;21139048;21693764;21906983;21963094;23530066;21903422;21857022;22607976;22268729;22505724 201595 Q8TCJ2 ABBA01024954;AC104643;AK027789;AK074587;AK075380;AK311488;AMYH01013056;AX799082;AY074880;BC015880;CH471055;NM_178862 AAH15880;AAL71884;BAB55370;BAC11581;CAE48447;EAW64415;EAW64416;NP_849193;Q8TCJ2 Hs.475812 1682081;1697304;1699352;1706970;2127447;5015861;7185938 D10S16;RH102149;RH103263;RH92648;SHGC-80983;STS-AA032256 FLJ90106;SIMP;STT3-B OTTHUMP00000161258;STT3, subunit of the oligosaccharyltransferase complex, homolog B;dolichyl-diphosphooligosaccharide protein glycotransferase;dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B;homolog of yeast STT3;oligosaccharyl transferase subunit STT3B;source of immunodominant MHC associated peptides;source of immunodominant MHC-associated peptides homolog APPROVED protein-coding 30611 12268 608605 PROVISIONAL 6484040 STX18P1 syntaxin 18 pseudogene 1 17 28395650 28396649 + 100418889 ABBA01015005;AC104996;AMYH01008298;NG_026236 pseudo 43995 INFERRED 1312365 STX11 syntaxin 11 This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008] 6 6 q24.2 144513362 144551196 + 144471654 144513076 + 634082;1580863;6480464;7240710 9553086 19169743;18710388;17785771;17525286;16278825;16189514;16180048;15703195;15489334;12477932;10080545;10036234;9571206;11046156;16169070;18029348;19804848;20379614;20486178;19967551;21298754;21832049;22767500;21988832;19322201;21674762;21900206;19259622;20301617;21342435;22797925;23160464 8676 O75558 ABBA01025740;ABBA01025741;AF038898;AF044309;AF071504;AI791689;AJ012501;AJ012506;AL135917;AL512354;AMYH01016723;BC033519;BF941242;BM150302;BQ030324;CH471051;CR739089;NG_007613;NM_003764 AAC24004;AAC24031;AAD02107;AAH33519;EAW47849;EAW47850;NP_003755;O75558 Hs.118958 1661494;1687399;1771849 RH37559;RH93390;STS-R66896 FHL4;HLH4;HPLH4 OTTHUMP00000017349;syntaxin-11 APPROVED protein-coding 11429 09231 603552;605014 REVIEWED 7247072 STX18-AS1 STX18 antisense RNA 1 (head to head) 16344560;22952603;23708191 100507266 ABBA01008246;ABBA01008247;ABBA01008248;ABBA01008249;ABBA01008250;AC013725;AC109359;AMYH01013903;BC025734;DA139592;NR_037888 Hs.276795 miscrna 48877 VALIDATED 1352651 STX17 syntaxin 17 9 9 9 q31.1 73182319 73250212 + 101708736 101776639 + 102668915 102736818 + 1299477;1580863;6480464 9852078 10930465;18029348;19209086;14702039;12477932;9094723;20596022;23217709;21545355;21139048;21890473 55014 E9PIC2;E9PJV6;E9PJW1;E9PQU9;P56962 ABBA01042894;AI375996;AK000658;AK095262;AK124662;AK295949;AK311412;AL358937;AL833620;AL834371;AMYH01021568;BC051790;BC070269;BC101564;BC101566;BC111009;BC143430;CH471105;DC318495;NM_017919 AAH70269;AAI01565;AAI01567;AAI11010;BAA91311;BAG53017;BAG58731;CAD39034;EAW58920;NP_060389;P56962 Hs.704031 1679195;1691278;1773117;1852659;2109903;2176707;2177941;5015609;5016403;5022637;5118147;5118412 D11S2766;D11S3017;D11S3026;D11S3270;G02304;G29237;RH47955;RH80962;RH93873;STS-F10187;STS-T98624;STX17_9865 FLJ20651;MGC102796;MGC126613;MGC126615 OTTHUMP00000021787;OTTHUMP00000232284;OTTHUMP00000232285;syntaxin-17 protein-coding 11432 05013 604204 VALIDATED 1350789 STX1B1 syntaxin 1B1 1580863 8884284;8105537 6805 Q15531 D37933 11434 1319758 STX16 syntaxin 16 This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011] 20 20 q13.32 56659734 56687988 + 57226309 57254582 + 1580863;6480464;7240710 15215310;9464276;9587053;17852734;17389686;15800843;15489334;15231748;14671302;12477932;12110575;11839770;11780052;11483580;19620288;20838585;18195106;19887622;20826815;19916794;20061437;20589833;21062889;21223469;23087324;18029348;21906983;22053931 8675 B4DJX9;B7ZBM4;B7ZBM5;B7ZBM7;B7ZBM8;C9K0W8;E9PLV7;E9PND6;F8W9Z6;G8JLE0;H0YEW0;Q6GMS8;Q96NX8 AA256337;ABBA01005975;AF008935;AF008936;AF008937;AF038897;AF305817;AF428146;AI570829;AK026970;AK026974;AK296282;AK304867;AK316547;AL050327;AL139349;AMYH01012021;AY414339;BC019042;BC073876;BQ229292;BU844520;BU844980;BX396221;BX537977;CA427122;CF594260;CH471077;DC424825;DQ272217;NG_011831;NM_001001433;NM_001134772;NM_001134773;NM_001204868;NM_003763;NR_037941;NR_037942;NR_037943 AAB69282;AAB69283;AAB69284;AAC05647;AAH19042;AAH73876;AAK55520;AAL25100;BAG58991;BAG65605;BAH14918;EAW75481;EAW75482;EAW75483;EAW75484;EAW75485;EAW75486;EAW75487;NP_001001433;NP_001128244;NP_001128245;NP_001191797;NP_003754;O14662 Hs.307913 1700876;1793362;2108539;2116812;2125872;2152735;2159754;2180710;2184679;5015861;5022425;5022576;5024039;5037552;5093508;5109281;7185938 A009Q02;D10S16;D16S325;D1S1361;D1S1425;D20S496;D22S296;D8S2279;G32759;PMC213493P1;RH104064;RH16472;RH64145;RH69331;STS-H63081;STX16_8844 MGC90328;SYN16;hsyn16 OTTHUMP00000031789;OTTHUMP00000031790;OTTHUMP00000031792;OTTHUMP00000174361;OTTHUMP00000174364;OTTHUMP00000174365;OTTHUMP00000236434;syntaxin-16 APPROVED protein-coding ENSG00000124222 11431 04718 603233;603666 REVIEWED 1320740 STX18 syntaxin 18 4 4 4 p16.3-p16.2 4318693 4440967 - 4471596 4594676 - 4420695 4543775 - 1580863;6480464 10788491;19401338;18722709;16571679;15489334;15272311;15029241;12477932;20634891;16169070;20087401;17043677;21139048;21906983 53407 D6RC71;D6RD65;D6RF48;H0YAL4;Q9P2W9 AB028741;ABBA01008245;ABBA01008246;AC013725;AC110814;AK310026;AL832867;AMYH01013903;AY453396;BC014613;BC071980;BG771856;BT007150;BT020135;BX647083;CH471131;NM_016930 AAH14613;AAP35814;AAS47513;AAV38937;BAA95213;EAW82427;EAW82428;EAW82429;NP_058626;Q9P2W9 Hs.584913 1747591;1770489;1774613;2130406;2132726;2133930;2156169;2171808;2177217;2177681;2219728 D4S1275;D4S2703;G65528;SHGC-30353;SHGC-50656;SHGC-50981;SHGC-67907;STS-D51228;STX18__5346;WI-17747;WIAF-2557 DKFZp686O15149;Ufe1 OTTHUMP00000115383;OTTHUMP00000217182;cell growth-inhibiting gene 9 protein;syntaxin-18 protein-coding ENSG00000168818 15942 06923 606046 VALIDATED 737034 STX12 syntaxin 12 1 1 1 p35.3 26495339 26546590 + 27972281 28023550 + 28099694 28150963 + 634081;1580863;6480464 9507000 15469992;17081983;15489334;14702039;12847087;12477932;12070131;11936273;10886332;10833436;10610180;10458612;9852078;9817754;9553086;9110174;8619474;19546860;19910495;17207965;20562859;21674799;22939629;21139048;21890473;21906983;12191018;19322201;22053931 23673 B1AJQ6;Q86Y82 ABBA01034990;ABBA01034991;ABBA01034992;ABBA01034993;ABBA01034994;AF070635;AF123769;AK095898;AK297585;AK299982;AK309990;AK315880;AL020997;AL035306;AMYH01000424;BC046999;BM148993;CH471059;CR407620;NM_177424 AAH46999;AAP97248;ADQ33101;BAF98771;BAG59973;BAG61803;CAA22911;CAG28548;EAX07738;EAX07739;NP_803173;Q86Y82 Hs.523855 1336953;1673848;1680781;1732970;2116274;2132932;2157476;2158198;2173244 D1S1354;D1S1976E;D1S2200;D1S2787;RH92348;SHGC-74450;SHGC-74451;SHGC-74518;SHGC-8608 MGC51957;STX13;STX14 OTTHUMP00000003845;OTTHUMP00000003846;syntaxin-12 protein-coding ENSG00000117758 11430 06059 606892 VALIDATED 1605776 STX19 syntaxin 19 3 3 3 q11 92116939 92131179 - 95215903 95230144 - 93733213 93747454 - 15489334;12477932 415117 Q8N4C7 ABBA01026971;AC117474;AC130896;AF461456;AMYH01013339;BC034696;CH471052;NG_017076;NM_001001850 AAH34696;AAQ04780;EAW79902;NP_001001850;Q8N4C7 Hs.679768;Hs.741069 MGC21382 OTTHUMP00000213862;syntaxin-19 protein-coding ENSG00000178750 19300 14477 VALIDATED 736110 STX1B syntaxin 1B Syntaxins are cellular receptors for transport vesicles (see MIM 603765). One of these proteins, designated syntaxin 1B (STX1B), is directly implicated in the process of calcium-dependent synaptic transmission in rat brain (Smirnova et al., 1993 [PubMed 8105537]). The expression of this protein is transiently induced by long-term potentiation of synaptic responses in the rat hippocampus. The protein may play an important role in the excitatory pathway of synaptic transmission, which is known to be implicated in several neurologic diseases.[supplied by OMIM, Nov 2010] 16 16 16 p11.2 29275546 29296879 + 30910869 30929276 - 31000577 31021829 - 6480464 8105537;18691641;15489334;12477932;8884284;8999968;12093152;12651853;11112705;17500595;22360420;21139048 112755 H3BT82;P61266;Q2VPS2 ABBA01042073;ABBA01042074;AC135048;AC135050;AMYH01007501;AY028792;AY203924;AY995211;BC038359;BC062298;BX102270;CH471192;NM_052874 AAH62298;AAK27267;AAP34447;AAY45889;EAW52178;NP_443106;P61266 Hs.542230 1678255;1682465;1684435;1685219;5022578 D1S1423;RH12292;RH28513;RH70099;RH78319 STX1B1;STX1B2 FP17469;OTTHUMP00000163224;syntaxin 1B1;syntaxin 1B2;syntaxin-1B;syntaxin-1B1;syntaxin-1B2 APPROVED protein-coding ENSG00000099365 18539 18126 601485 VALIDATED 69485 STX1A syntaxin 1A (brain) This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 7 7 q11.23 72751476 72771924 - 73113535 73134017 - 1581432;1581434;1580863;2311087;6480464 11345516;10842016;19295123 20471030;15537656;8611567;19368856;19129200;19004828;18593506;18512733;18457912;18065728;17912268;17543282;17506992;17264080;17032905;16672225;15822905;15563604;15489334;15459722;15339904;15316009;15219469;15202772;15184072;15175344;14996668;14623309;12853948;12853575;12730201;12651853;12629174;12586365;12562778;12558796;12477932;12446681;12403834;12209004;12200427;12198139;12175857;12145319;12130530;12114505;12101244;12093152;11960023;11884041;11845306;11719842;11509230;11438523;11438522;11112705;11101518;11017172;10954418;10844023;10746715;10722844;10707983;10675364;10468580;10449403;10409621;10397765;10373452;10321247;10194441;10100611;10080545;9930733;9852078;9698305;9697855;9620695;9556632;9478941;9395480;9384384;9311751;9177791;9067339;9045631;9030619;9010211;9003414;8999968;8108429;7791877;7768895;7622514;7622072;7553862;22250207;1321498;1315316;12963086;16169070;11832227;11524423;10195194;8663154;7961655;12828989;9168999;12832401;12590134;12121982;10891589;15778713;15276154;16344560;17200691;17363971;18617632;19557857;19578796;20385907;20564318;22791290;16722236;12115694;21173146;20422020;17456438;17500595;21976501;21118708;21789195;21916482;22130660;22360420;22264512;22404429;19546860;17274640;21669024;22411134;12519779;23403573;23242284;20489724 6804 A8MZ54;Q16623;Q75ME0;Q7Z5K3 AB086954;ABBA01063942;AC073846;AI951874;AK299959;AK313980;AMYH01017537;AMYH01017538;BC000444;BC003011;BC064644;CH471200;CR457018;D37932;DA159446;L37792;NG_013360;NM_001165903;NM_004603;U12918;U87315 AAA20940;AAA53519;AAB65500;AAH03011;AAH64644;AAK54507;AAS07469;AAS07470;ACT64425;ACT64426;BAA07151;BAC78519;BAG36694;BAG61785;CAG33299;EAW69649;EAW69650;EAW69651;EAW69652;EAW69653;EAW69654;EAW69655;NP_001159375;NP_004594;Q16623 Hs.647024 1654510;1700118;1796892;1851753;2143690;5491469 D7S2927;MARC_14487-14488:1010605685:1;RH103672;RH78389;STS-L37792;STX1A_264 HPC-1;STX1;SYN1A OTTHUMP00000174615;OTTHUMP00000174616;OTTHUMP00000174617;OTTHUMP00000174618;neuron-specific antigen HPC-1;syntaxin 1a;syntaxin-1A APPROVED protein-coding ENSG00000106089 11433 01721 186590 REVIEWED 732157 STX2 syntaxin 2 The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 q24.33 129840098 129889764 - 131274145 131323819 - 728629;1580863;6480464 8938452 10397765;8466509;1581962;16339081;19129200;18273050;17485553;15943887;15651999;15489334;12477932;12198139;10777504;9425164;9177305;9110174;9045631;8999968;8619474;8549663;7791877;7768895;12828989;12651853;9168999;8663154;12773094;21156930;22792389;22045676;15146197;21906983;19322201 2054 J3KNU7;P32856 ABBA01019820;ABBA01019821;ABBA01019822;AC073912;AF052181;AMYH01004880;AMYH01004881;AMYH01004882;BC047496;CD300217;CH471054;CN418753;D14582;DB474363;NM_001980;NM_194356 AAH47496;BAA03436;EAW98513;EAW98514;NP_001971;NP_919337;P32856 Hs.437585 1723189;2128327;2144200;2166037;2170346;5014740;5022578;5109663;5111083 D17S610;D1S1423;D6S1152E;D7S2067E;RH121436;RH68574;STS-D14582;WI-12272;WIAF-2148 EPIM;EPM;MGC51014;STX2A;STX2B;STX2C OTTHUMP00000238636;OTTHUMP00000238637;epimorphin;syntaxin-2 APPROVED protein-coding ENSG00000111450 3403 11816 132350 REVIEWED 735349 STX3 syntaxin 3 The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 11 11 q12.1 59279465 59326755 + 59522532 59573355 + 1580863;6480464 21371234;18029348;16339081;15623527;15489334;12828989;12477932;12198139;10788461;10397765;10336434;10080545;9852078;9701566;9614185;9378770;9045631;8824312;7791877;7768895;7598732;12558796;9168999;8663154;11003604;12545172;14702039;15576373;16551573;17041090;17363971;18588921;19515809;19815536;20379614;20695848;17207965;17693260;20844248;21720706;21981832;21139048;21906983;23132338 6809 E7ET77;E9PN33;E9PQJ8;F8W9Y0;Q13277;Q53YE2 AA858058;ABBA01021506;ABBA01021507;ABBA01021508;ABBA01021509;AJ002076;AJ002077;AK055468;AK125660;AK290251;AK293494;AK297419;AK312909;AMYH01003662;AMYH01003663;AP000640;BC007405;BC007429;BT006666;BX538158;CH471076;JA738671;NM_001178040;NM_004177;U32315;X90581 AAA75303;AAH07405;AAH07429;AAP35312;ADQ31840;BAF82940;BAG35755;BAG54232;BAG56981;BAG59852;CAA05175;CAA05176;CAA62209;CAD98039;CCF76988;EAW73853;EAW73854;EAW73855;EAW73856;EAW73857;NP_001171511;NP_004168;Q13277 Hs.180711 1341732;1652719;1666195;1737213;1774196;2128967;2136308;2139208;2169217;5092648;7185343 A005M15;A007C17;D11S1335;D11S1991;D11S3077;D11S4654;G32238;RH67805;SGC35544;STS-H71666 FLJ30906;STX3A OTTHUMP00000235765;OTTHUMP00000235767;OTTHUMP00000235768;syntaxin 3A;syntaxin-3 APPROVED protein-coding ENSG00000166900 11438 15985 600876 REVIEWED 68634 STX5 syntaxin 5 This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 11 11 q12.3 62330945 62356136 - 62574332 62599563 - 1580863;6480464 11927603;15215310;9188044;18029348;18167358;17389686;16081076;15489334;14565970;12506202;12477932;12473691;12388752;11959998;11035026;10080545;9714710;9647643;9506515;9166403;9094723;15029241;9325254;16189514;10903204;16169070;12651853;15109302;16712791;20562859;19536132;20676083;22087225;21242315;18086915;21715015;21139048;21906983;21987572;22505724 6811 B4DKR0;E9PNU4;E9PP18;E9PRW9;F8W8Q9;H0YEJ8;H7C3X5;Q13190 ABBA01003246;AK296675;AK313497;AMYH01003691;AP001160;BC002645;BC012137;BE409085;BT019646;BT019647;BX537426;CB155395;CH471076;CQ871256;NG_030034;NM_001244666;NM_003164;U26648 AAC71078;AAH02645;AAH12137;AAV38452;AAV38453;BAG36279;BAG59272;CAD97668;CAH56809;EAW74108;EAW74109;EAW74110;NP_001231595;NP_003155;Q13190 Hs.654602 1649902;1680611;1682377;1697102;1698812;1725831;1772447;1778159;1792336;1792376;2109905;2147411;2183382;2184994;5106391 D11S1140;D11S4715;G62080;PMC14794P1;PMC150226P1;RH102034;RH102969;RH48793;RH66222;RH79939;RH80822;SHGC-2475;STS-U26648;STX5A_8658;WI-15662 SED5;STX5A OTTHUMP00000185026;OTTHUMP00000185027;OTTHUMP00000185028;OTTHUMP00000233136;syntaxin-5 APPROVED protein-coding ENSG00000162236 11440 04426 603189 REVIEWED 731468 STX4 syntaxin 4 16 16 p11.2 30952404 30958986 + 31044903 31051485 + 1580863;2302393;2302397;6480464;6484113;6907045 17717074;18570632 9045631;16339081;10856305;18029348;16189514;15489334;15351710;15184072;14993220;14702039;12855681;12853575;12832401;12558796;12556468;12517971;12477932;12435603;12417022;12145319;12130530;11884531;11880646;11842301;11063739;10820264;10508479;10397765;10394363;10194441;9815132;9168999;8973549;8770861;8760387;8206394;7791877;7690687;12828989;12651853;10713150;9852078;8663154;12773094;7768895;21393240;11031247;11252894;11994746;15576373;18535201;18588921;18793635;20434989;20595382;20956541;20959521;21720706;22226963;19546860;21139048;21890473;21906983;22558309;22939629 6810 A8MXY0;B7Z425;C9JFM5;H3BMK2;Q12846 ABBA01042075;ABBA01042076;AC135050;AF026007;AF318489;AJ000541;AK091833;AK296652;AK315716;AMYH01007502;BC002436;BI755734;BQ775670;BT007326;CH471192;CR541806;NM_001272095;NM_001272096;NM_004604;U07158;X85784 AAA20967;AAB88810;AAG40313;AAH02436;AAP35990;BAG38075;BAG52424;BAH12411;CAA04174;CAA59769;CAG46605;EAW52175;EAW52176;EAW52177;NP_001259024;NP_001259025;NP_004595;Q12846 Hs.83734 1683733;1684192;1762747 RH11484;RH48799;SHGC-146535 STX4A;p35-2 OTTHUMP00000163238;OTTHUMP00000196803;renal carcinoma antigen NY-REN-31;syntaxin 4A (placental);syntaxin-4 protein-coding ENSG00000103496 11439 01722 186591 VALIDATED 731983 STX6 syntaxin 6 1 1 q25.3 179208798 179258669 - 180942175 180992046 - 1580863;6480464 10506127;9697774;18779328;16710414;15689499;15489334;15322554;14702039;14623309;12853575;12477932;11839770;11707463;11423532;11384996;11278762;11001914;10839363;10359608;10080545;22489884;19620288;9880331;9110174;8663448;8619474;21109560;20562859;20130090;22939629;21063020;21685912;21963094;22573826;23000965;23585472;21807881;19224922;21880737;21139048;21890473;21906983;20685960 10228 B4DR17;O43752 ABBA01027787;AF038202;AJ002078;AK056657;AK299063;AK312440;AL162431;AL356267;AMYH01001543;BC009944;BC039118;BU902578;CH471067;CR541856;CR541873;NM_005819 AAH09944;ABM82858;ABM86045;BAB71242;BAG35349;BAG61129;CAA05177;CAG46654;CAG46671;EAW91091;EAW91092;EAW91093;NP_005810;O43752 Hs.518417;Hs.737037 1653495;1848307;2108541;5109281 D1S1425;SHGC-76006;SHGC-76008;STX6_9068 OTTHUMP00000033134;syntaxin-6 protein-coding ENSG00000135823 11441 07231 603944 VALIDATED 731411 STX8 syntaxin 8 The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 17 17 p12 9094513 9420000 - 9153788 9479275 - 1299477;1580863;6480464 9852078 10839363;10198254;18029348;19422935;19174780;18980942;18570918;17965969;16189514;15761153;15489334;15039462;14991845;14623309;12477932;12388752;12175335;11101518;10781590;10683148;10564279;18821010;16169070;20379614;20886065;20562859;21674799;15840729;19850743;21139048;21890473;21906983;22053931;22875976 9482 I3L305;I3L371;I3L3D0;K7EQB1;K7ER37;Q9UNK0 ABBA01054941;ABBA01054942;ABBA01054943;ABBA01054944;ABBA01054945;ABBA01054946;ABBA01054947;ABBA01054948;ABBA01054949;ABBA01054950;ABBA01054951;ABBA01054952;ABBA01054953;ABBA01054954;ABBA01054955;ABBA01054956;AC005695;AC009335;AC087501;AF036715;AF062077;AF115323;AMYH01008096;AMYH01008097;AMYH01008098;AMYH01008099;BC009713;BC020924;BT007319;BU596252;CH471108;NM_004853;NR_033656 AAC36466;AAC95285;AAD20831;AAH09713;AAP35983;ABM81911;ABM85087;EAW90028;EAW90029;EAW90030;EAW90031;NP_004844;Q9UNK0 Hs.431109 1335990;1649124;1672951;1697084;1704870;1718529;1724673;1759409;1766151;1852915;2120574;2187068;5024619 A071XD9;D17S1791;G29125;RH102024;RH121339;RH122466;RH35921;RH41868;SHGC-149527;SHGC-150916;SHGC-3315;SHGC-79909;STS-H49358 CARB CIP-1-associated regulator of cyclin B;syntaxin-8 APPROVED protein-coding 11443 05012 604203 REVIEWED 737314 STX7 syntaxin 7 6 6 q23.1 132822848 132875859 - 132778663 132834337 - 1580863;6480464 9358037;18980942;18570918;18198266;16344560;15489334;15345747;14574404;12730232;12665801;12543931;12477932;12218144;12175335;12114520;11786915;11591653;11423532;11382755;11278762;11101518;10982406;10839363;10692457;10564279;9852078;9417091;14623309;20562859;20170677;11031247;11252894;18029348;19714869;8619474;9110174;22939629;21438968;21900206;21139048;21890473;19322201 8417 B4DH37;O15400 ABBA01025879;AF131808;AJ420529;AK294911;AK301464;AL357034;AL589691;AMYH01016676;AW500305;BC011975;BF064142;CH471051;DA242979;NM_003569;U77942 AAC51851;AAH11975;BAG57998;BAG62984;EAW48029;EAW48030;NP_003560;O15400 Hs.593148;Hs.605992 1671620;1686056;1688506;1699496;1716297;1732656;1774038;1787354;1855825;2170774;2176178;2179593;5017291;5093404;5121411 A009O06;D6S2191;D6S957;G28630;G32698;RH103341;RH121178;RH12578;RH46764;RH46806;RH92707;RH93946;SHGC-155523;STS-W94888;WI-17521 OTTHUMP00000017219;OTTHUMP00000017220;OTTHUMP00000017221;syntaxin-7 protein-coding ENSG00000079950 11442 04449 603217 VALIDATED 737322 STXBP1 syntaxin binding protein 1 This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 9 9 q34.1 129414390 129494816 + 130374486 130454995 + 2311087;6480464;7240710 19295123 20471030;12016213;11927603;10903204;10746715;10449403;10194441;9933594;9545644;9395480;9115738;9045631;8824310;8631738;8108429;7698978;19019082;7768895;7553862;12773094;19557857;18617632;18469812;18268500;17264080;16413130;15635413;15592455;15563604;15489334;15489225;15175344;14744865;14702039;12963086;12950453;12590134;12519779;12477932;12093152;16722236;20681955;20876469;17200691;17363971;19686046;20887364;17500595;21832049;22939629;21204804;23091057;21364700;22360420;21762454;21770924;23487749;18781797;21139048;21906983;21669024;21565611;23409955;22211739 6812 P61764;Q68CM6 AB209180;ABBA01043839;ABBA01043840;AF004562;AF004563;AK094794;AK293984;AK295154;AK295802;AL162426;AMYH01021731;AMYH01021732;BC015749;CH471090;D63851;DC325017;NG_016623;NM_001032221;NM_003165;Y12723 AAC39688;AAC39689;AAH15749;ABM86352;ABW03785;BAA19483;BAD92417;BAH11641;BAH11993;BAH12190;CAA73255;EAW87679;EAW87681;NP_001027392;NP_003156;P61764 Hs.288229 1657944;1740019;1798232;1848318;2161539;2162623;2170016 1986;D9S1028E;D9S1144;D9S1763;STXBP1_858.2;WI-17094;WI-4184 EIEE4;FLJ37475;MUNC18-1;NSEC1;P67;RBSEC1;UNC18 N-Sec1;OTTHUMP00000022196;OTTHUMP00000022197;neuronal SEC1;protein unc-18 homolog 1;protein unc-18 homolog A;syntaxin-binding protein 1;unc-18A;unc18-1 APPROVED protein-coding ENSG00000136854 11444 04235 602926;612164 REVIEWED 733592 STXBP2 syntaxin binding protein 2 This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013] 19 19 p13.3-p13.2 7608011 7618707 + 7701991 7712759 + 1580863;6480464 18588921;16344560;14702039;12773094;12649283;12482918;12477932;12198139;12065586;11748230;10788461;9701566;9045631;8921365;8125298;7768895;7598732;19804848;19884660;20798128;20558610;22336081;21152410;11487543;21881043;23000965;23487749;11337467;21990010;22123903;22672194;22791290;22796692;23100279;20695848;21139048;21890473;21906983;20301617;22451424;22939629;23382066;19460752;22505724 6813 B4E175;E7EQD5;M0QZ54;M0R0D4;M0R0M7;M0R118;M0R1A1;M0R376;Q15833;Q53GF4;R4GMY7 AB002559;ABBA01010893;AC008763;AF318317;AI571535;AK098000;AK222967;AK222977;AK302257;AK303701;AK314230;AMYH01009410;AU098728;BC002869;BQ067493;BT006915;CH471139;DA431480;NG_016709;NM_001127396;NM_001272034;NM_006949;NR_073560;U63533 AAC50762;AAH02869;AAL55824;AAP35561;ADZ15922;BAA19547;BAD96687;BAD96697;BAG63608;BAG64687;EAW69017;EAW69018;NP_001120868;NP_001258963;NP_008880;Q15833 Hs.515104 5114523 RH36223 FHL5;Hunc18b;MUNC18-2;UNC18-2;UNC18B;pp10122 protein unc-18 homolog 2;protein unc-18 homolog B;syntaxin-binding protein 2;unc-18B APPROVED protein-coding ENSG00000076944 11445 03423 601717;613101 REVIEWED 1347913 STXBP5 syntaxin binding protein 5 (tomosyn) Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 6 q24.3 148265949 148449151 + 147566565 147748588 + 147525494 147711612 + 1299498;6480464 9620695 17081983;14767561;14702039;14574404;12832401;12477932;10066450;7829101;20231535;20463552;16712791;20694014;21029358;21156930;21330375;21163921;17620599;22318606;22792389 134957 H0Y332;H7BXC4;Q3B794;Q5JRH0;Q5T5C0 AB073398;ABBA01025714;ABBA01025715;AI079651;AK055484;AK090549;AK128121;AL355365;AL356415;AL590709;AL834152;AMYH01016729;AW020148;BC043645;BC065713;BC107737;BC113382;BC113408;CB140025;CH471051;NM_001127715;NM_139244 AAI07738;AAI13383;AAI13409;BAB70930;BAC03475;BAE45727;BAG54632;EAW47819;EAW47820;EAW47821;EAW47822;EAW47823;NP_001121187;NP_640337;Q5T5C0 Hs.86320 1670588;1680429;1691322;1714161;1715059;1723817;1796896;1850161;1858279;2120301;2130993;2157090;2171885 D6S1205E;G35014;RH118645;RH119481;RH119689;RH66550;RH98677;RH98706;SGC32886;SHGC-36574;SHGC-57989;STS-H95256;STXBP5_1310 FLJ30922;LGL3;LLGL3;MGC141942;MGC141968;Nbla04300 OTTHUMP00000017380;OTTHUMP00000017381;OTTHUMP00000017382;lethal(2) giant larvae protein homolog 3;putative protein product of Nbla04300;syntaxin-binding protein 5;tomosyn;tomosyn-1 APPROVED protein-coding 19665 06845 604586 REVIEWED 6770039 STXBP5-AS1 STXBP5 antisense RNA 1 6 q24.3 147162524 147525750 - 12477932;14702039;16344560 729178 ABBA01025715;ABBA01025716;ABBA01025717;ABBA01025718;ABBA01025719;ABBA01025720;AK091594;AK125216;AL138916;AL356415;AL512345;AL512636;AMYH01016728;AMYH01016729;BC035182;BC044307;BQ269903;BU078216;DB318281;NR_034115 Hs.557608 1671271;1713593;1713807;1714629;1716799;1718369;1729750;1755477;2130993;2171885;5037552 D6S1300;D6S225;D8S2279;RH119980;RH120668;RH120790;RH121694;RH122957;RH66550;SHGC-142341;SHGC-36574 APPROVED miscrna 44183 VALIDATED 1317366 STXBP4 syntaxin binding protein 4 17 17 17 q22 49508379 49703707 + 50401125 50596448 + 53046126 53241449 + 2302395;6480464;6484113 17629673 19451233;15753124;15489334;14702039;12855681;12477932;10394363;16713569;20095854;20145138;20416077;18029348;20360068;21906983;22863968 252983 B5MCT9;E7EPP7;K7ESN8;Q6ZWJ1 ABBA01041284;ABBA01041285;ABBA01041286;AC005177;AC007485;AK122865;AK123793;AMYH01008487;BC041485;BC125116;CA848494;CH471109;NM_178509 AAH41485;AAI25117;BAC85511;EAW94545;EAW94546;NP_848604;Q6ZWJ1 Hs.35199 1662933 STS-D63113 FLJ16496;MGC149829;MGC50337;Synip OTTHUMP00000082667;OTTHUMP00000227400;STX4-interacting protein;syntaxin 4 interacting protein;syntaxin 4-interacting protein;syntaxin-binding protein 4 protein-coding ENSG00000166263 19694 18127 610415 VALIDATED 732509 STXBP3 syntaxin binding protein 3 1 1 1 p13.3 107559095 107621723 + 109090808 109153671 + 109289285 109352148 + 1580863;2302393;6480464 17717074 10194441;22939629;19061073;18588921;15576373;15489334;15146197;12477932;12065586;8824310;8125298;12832401;12773094;15707389;20460426;12649283;20416077;18029348;21444687;22390153;21139048;21890473;21906983;21987572 6814 O00186 ABBA01068354;AF032922;AK223170;AK290134;AK291322;AK312910;AL449266;AL591719;AMYH01000926;BC028028;BC038099;BC047764;CH471122;CN409056;D63506;NM_007269 AAC69606;AAH38099;AAH47764;BAA19482;BAD96890;BAF82823;BAF84011;BAG35756;EAW56330;EAW56331;EAW56332;NP_009200;O00186 Hs.530436 1708204;1796894;1855332;5017582 HIAT1;SHGC-75260;SHGC-79358;STXBP3__1208 MUNC18-3;MUNC18C;PSP;UNC-18C OTTHUMP00000012823;platelet Sec1 protein;protein unc-18 homolog 3;protein unc-18 homolog C;syntaxin 4 binding protein;syntaxin-binding protein 3;unc18-3 protein-coding ENSG00000116266 11446 10517 608339 VALIDATED 1323085 STXBP5L syntaxin binding protein 5-like 3 3 3 q13.33 119036797 119553405 + 122109609 122621338 + 120627050 121143608 + 1580863;6480464 19586676;15489334;14767561;12477932;10231032;9620695;20379614;23223146 9515 C9JCY1;C9JPK3;C9JQS3;C9JUZ7;C9K0E4;E9PFI2;Q9Y2K9 AB023223;ABBA01016486;ABBA01016487;ABBA01016488;ABBA01016489;ABBA01016490;ABBA01016491;ABBA01016492;AC072026;AC078854;AC078857;AC079841;AC112483;AC128659;AI279148;AK296544;AMYH01013424;AMYH01013425;BC022029;BC037531;CH471052;DC324331;DC403621;NM_014980 AAH22029;AAH37531;AAI66611;BAA76850;BAG59168;EAW79516;NP_055795;Q9Y2K9 Hs.477315 1298282;1709664;1735256;1753137;1779734;1779898;1847140;1848425;1856225;2106661 A006Y27;D3S2916E;D3S3023;DXS6736;SHGC-109993;SHGC-153705;SHGC-154102;SHGC-85203;STXBP5L__5348;WI-21827 KIAA1006;LLGL4 OTTHUMP00000215251;OTTHUMP00000215270;OTTHUMP00000215422;OTTHUMP00000215423;OTTHUMP00000215424;OTTHUMP00000215425;lethal(2) giant larvae protein homolog 4;syntaxin-binding protein 5-like;tomosyn-2;tomosyn-like protein-coding ENSG00000145087 30757 609381 VALIDATED 6484035 SUB1P2 SUB1 homolog (S. cerevisiae) pseudogene 2 14 q24.3 74772126 74772766 + 100287680 ABBA01030724;AC005519;AMYH01005852;NG_022860;NG_032875 pseudo 43992 INFERRED 2291764 SUB1P1 SUB1 homolog (S. cerevisiae) pseudogene 1 8 8 8 p23.1 10776788 10777921 + 11684295 11685679 + 11647461 11648594 + 11181995 728938 ABBA01026877;AC069185;AMYH01018482;CH471157;NG_007169 EAW65627 1697138 RH102055 hCG17750 pseudo 32300 INFERRED 6484037 SUB1P4 SUB1 homolog (S. cerevisiae) pseudogene 4 16 p12.2 23548381 23549453 + 100288661 ABBA01017064;AC002400;AMYH01007382;NG_027752;NG_027760 pseudo 43994 INFERRED 1349385 SUCLA2P1 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 1 6 6 6 p21.33 32034788 32036154 + 30544638 30546007 + 30436650 30438699 + 19851445 646520 ABBA01038045;AL662822;AL662873;AL844213;AMYH01016204;BX927143;BX936375;CR762481;NG_022351 1748515 SHGC-31155 Em:AB014080.4;SUCLA2P APPROVED pseudo 21632 INFERRED 3184209 SUCLA2P2 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 2 2 2 2 p12 76165538 76166736 - 76186667 76190680 - 76333127 76334325 - 100129863 ABBA01075626;AC073091;AMYH01010458;NG_021507 pseudo 38102 INFERRED 2859028 SUCLA2P3 succinate-CoA ligase, ADP-forming, beta subunit pseudogene 3 2 2 25143123 25144908 - 25302773 25304558 - 100421648 ABBA01045133;AC013267;AMYH01010179;NG_021497 2184574 D2S1292 pseudo 38103 INFERRED 1314544 STXBP6 syntaxin binding protein 6 (amisyn) STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008] 14 14 14 q12 5145717 5383553 - 24351133 24588935 - 25281293 25519095 - 625564;6480464 12145319 15489334;14702039;12508121;21116278;12477932;11042152;21738478;20379614;21139048;22589738;22685579 29091 F8VZZ2;Q8NFX7 ABBA01061347;ABBA01061348;ABBA01061349;AF161505;AF391153;AK096957;AK309203;AL137164;AL161663;AL161666;AL834346;AMYH01005615;AMYH01005616;BC009499;BC067278;CH471078;NM_014178 AAF29120;AAH09499;AAH67278;AAM46624;ABM84053;ABM87404;BAC04911;CAD39012;EAW65996;EAW65997;EAW65998;EAW65999;EAW66000;EAW66001;NP_054897;Q8NFX7 Hs.508958 1336534;1339829;1657157;1659545;1695928;1721303;1725411;1739405;1753705;1755407;2151729;5094154;7187912 D14S1041;D14S264;D14S808E;G54578;G59648;RH119024;RH69531;RH69591;RH78514;SHGC-107575;SHGC-142285;SHGC-78883 FLJ39638;HSPC156;amisyn OTTHUMP00000178754;OTTHUMP00000243806;OTTHUMP00000243807;OTTHUMP00000243808;OTTHUMP00000243809;OTTHUMP00000243810;syntaxin-binding protein 6 APPROVED protein-coding ENSG00000168952 19666 607958 PROVISIONAL 1348462 STYK1 serine/threonine/tyrosine kinase 1 Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008] 12 12 p13.2 10662805 10717906 - 10771538 10826891 - 6480464 11256614;19464057;19409952;17415682;17298854;16381901;15489336;15489334;15150103;12841579;12477932;11230166;11076863;19664042;20379614;23010592;12471243;22939624;21906983;22516751 55359 F5GZF6;F5H2I9;F5H366;F5H4G3;H0YGL5;Q6J9G0 ABBA01067806;AC021049;AF251059;AK313906;AL353940;AMYH01004280;AY563054;BC093822;BC093824;CH471094;NM_018423 AAH93822;AAH93824;AAK34949;AAT01226;BAG36629;CAB89250;CAL38683;EAW96200;NP_060893;Q6J9G0 Hs.24979 1726045;1736244;1770059;2143053 A006W05;D12S1192E;G62335;RH15724 DKFZp761P1010;NOK;SuRTK106 OTTHUMP00000238727;novel oncogene with kinase domain;protein PK-unique;tyrosine-protein kinase STYK1 APPROVED protein-coding ENSG00000060140 18889 15447 611433 VALIDATED 6484043 SUCLG2P1 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 1 3 142251089 142251810 - 100421671 ABBA01059024;AC134509;AMYH01013547;NG_025634 pseudo 43996 INFERRED 6484051 SUCLG2P2 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 2 12 q22 94941997 94944331 + 283398 ABBA01053362;AC023161;AMYH01004661;NG_017133 1679690;1684028;2149508 G20754;RH17211;RH41686 pseudo 43997 INFERRED 6484044 SUCLG2P3 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 3 11 107456626 107457424 - 100421712 ABBA01039880;AMYH01004014;AP001823;NG_024413 pseudo 43998 INFERRED 6484024 SUCLG2P4 succinate-CoA ligase, GDP-forming, beta subunit pseudogene 4 5 p13.3 29001850 29004819 + 100130528 ABBA01066690;AC024589;AMYH01014983;NG_017131 1785182;2115127;2135443 D5S1913;G15810;SHGC-78611 pseudo 43999 INFERRED 1312345 STYX serine/threonine/tyrosine interacting protein The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011] 14 14 14 33246562 33291384 + 52266682 52309232 + 53196883 53241707 + 1580863;6480464 19369647;17047026;15489334;14702039;12477932;11842224;9633825;7592916 6815 Q8WUJ0 ABBA01018169;AF085865;AK098195;AK124924;AL133453;AL139317;AL832591;AL832697;AMYH01005731;BC020265;BC146995;BC146998;BQ772275;BX647636;CH471061;CH471078;DB498442;NG_030377;NM_001130701;NM_145251;U87169 AAB47561;AAH20265;AAI46996;AAI46999;BAC05259;EAW65641;EAW65644;EAW80612;EAW80613;NP_001124173;NP_660294;Q8WUJ0 Hs.364980 1660343;1664006;1667784;2124896;2140215;2147560 G36146;RH44742;SHGC-34397;SHGC-37165;STS-Z40984;WI-15120 FLJ42934 OTTHUMP00000179000;OTTHUMP00000245250;protein tyrosine phosphatase-like protein;serine/threonine/tyrosine-interacting protein APPROVED protein-coding ENSG00000198252 11447 10258 REVIEWED 1353281 STYXL1 serine/threonine/tyrosine interacting-like 1 7 7 7 q11.23 70494194 70545856 - 75463591 75515257 - 75625655 75677321 - 1580863;6480464 17353931;9757831;15790807;15761153;15489334;12853948;12477932;15735734;20180778;10737800;16341674;21262771;21906983;23163895 51657 C9J4H0;F8W9Q3;H0Y6C4;H7C1Y2;Q9Y6J8 AA782050;ABBA01005898;ABBA01005899;ABBA01005900;ABBA01005901;ABBA01005902;ABBA01005903;AC006330;AF069762;AF169647;AF169648;AF188201;AF188202;AF188203;AF188204;AI676056;AK308828;AMYH01017559;AMYH01017560;AMYH01017561;AY927581;BC024035;BM824947;BX537896;CH471220;NM_016086;W58723 AAD36983;AAD53723;AAD53724;AAF04111;AAF04112;AAF04113;AAF04114;AAH24035;AAS07535;ABM84346;ABM87738;ACE86525;ACE87204;CAD97887;EAW71789;EAW71790;EAW71791;EAW71792;EAW71793;EAW71794;EAW71795;NP_057170;Q9Y6J8 Hs.11615 1651099 WI-15388 DUSP24;MK-STYX OTTHUMP00000161016;OTTHUMP00000210188;OTTHUMP00000210189;OTTHUMP00000210191;OTTHUMP00000210192;OTTHUMP00000210195;dual specificity phosphatase 24 (putative);dual specificity phosphatase inhibitor MK-STYX;dual specificity protein phosphatase 24;map kinase phosphatase-like protein MK-STYX;serine/threonine/tyrosine-interacting-like protein 1 protein-coding ENSG00000127952 18165 13256 VALIDATED 1605698 SUB1 SUB1 homolog (S. cerevisiae) 5 5 p13.3 32621434 32637820 + 32585605 32604185 + 6480464 11389848;8062391;18029348;19047459;17081983;16982701;16415882;15635413;15489334;15302935;15199162;14966284;12590132;12565890;12477932;11741883;11313979;11279157;11005381;10887206;9660958;9660784;9632764;9482861;9360603;8062392;7809103;7628453;9885563;15893730;21319273;19706510;20080105;21193408;19759913;17785449;19525231;20305379;23184937;21832049;22939629;10024883;20360068;21586571;17130840;17317687;19038270;21987572;17361185;19322201;19471022;21139048;21890473;21906983;21907836;22174317;22505724 10923 D6R970;D6RC37;P53999;Q6IBA2 AB209285;ABBA01066746;AC074134;AK294124;AK307268;AK311754;AMYH01014999;BC009610;BC010537;BC018189;BC022339;BC063402;BC071655;BC105972;BX472106;CH471118;CR456902;HI554101;NM_006713;U12979;X79805 AAA20980;AAH09610;AAH10537;AAH18189;AAH22339;AAI05973;BAD92522;BAG34697;BAH11676;CAA56200;CAG33183;CBX54570;EAX10793;EAX10794;EAX10795;EAX10796;NP_006704;P53999 Hs.229641 1677354;1689576;1697138;1713239;1854281;5123010 RH102055;RH120609;RH41222;RH69265;SGC32812;WI-16354 MGC102747;P15;PC4;p14 OTTHUMP00000161705;OTTHUMP00000220915;OTTHUMP00000220916;OTTHUMP00000220918;OTTHUMP00000220919;activated RNA polymerase II transcription cofactor 4;activated RNA polymerase II transcriptional coactivator p15;positive cofactor 4 protein-coding ENSG00000113387 19985 02737 600503 VALIDATED 1319721 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008] 13 13 13 q12.2-q13.3 29571546 29630199 - 47414792 47473463 - 48516791 48575462 - 1580863;2306915;6480464;6907045;7240710 17403370 10727444;14643893;15877282;15592455;15489334;14702039;12477932;10508479;9765291;8125298;18392745;22740690;19526370;19615732;20877624;20843780;22939629;19167051;20186120;22980518;23010432;22190034;21139048;21890473;22589738;21782286;20301762 8803 E5KS60;F5GXC8;F5H5G8;Q5T9Q5;Q5T9Q8;Q9P2R7;Q9Y4T0 AB035863;ABBA01050999;ABBA01051000;AF058953;AF087890;AK001458;AK001847;AK093506;AK225452;AK299437;AK302311;AK315513;AK316041;AK316271;AL080096;AL157369;AMYH01005099;BC027587;BX640602;CH471075;HQ205871;HQ205872;HQ205873;HQ205874;HQ205876;HQ205877;HQ205879;HQ205882;HQ205883;HQ205886;HQ205891;HQ205894;HQ205897;NG_008241;NM_003850 AAC64396;AAH27587;AAP97189;ADP91739;ADP91740;ADP91741;ADP91742;ADP91744;ADP91745;ADP91747;ADP91750;ADP91751;ADP91754;ADP91759;ADP91762;ADP91765;BAA91703;BAA91939;BAA92873;BAG37894;BAG61414;BAG63649;BAH14412;BAH14642;CAB45708;CAE45708;EAX08775;EAX08776;EAX08777;EAX08778;NP_003841;Q9P2R7 Hs.743361 1748515;2131911;2168256;2173356;2174830;2185089 A004F20;D13S1358;HSC2RA062;RH70784;SHGC-31155;SHGC-64010 A-BETA;MTDPS5;SCS-betaA ATP-specific succinyl-CoA synthetase subunit beta;ATP-specific succinyl-CoA synthetase, beta subunit;OTTHUMP00000018384;OTTHUMP00000018385;OTTHUMP00000018388;mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta;renal carcinoma antigen NY-REN-39;succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial;succinyl-CoA synthetase beta-A chain APPROVED protein-coding ENSG00000136143 11448 06798 603921;612073 REVIEWED 6484052 SUDS3P1 suppressor of defective silencing 3 homolog (S. cerevisiae) pseudogene 1 5 q35.3 177398179 177400822 + 285647 ABBA01039249;AC136940;AMYH01015932;NG_005309 pseudo 44000 INFERRED 731609 SUCLG1 succinate-CoA ligase, alpha subunit This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010] 2 2 p11.2 84504163 84540097 - 84650647 84686586 - 1580863;2306915;6480464;6907045;7240710 17403370 15234968;9128182;17668387;16730941;15489334;15342556;12477932;10873456;8125298;18392745;20197121;20227526;14702039;19526370;20877624;20693550;22939629;22990118;17314511;18029348;21139048;21890473;22980518 8802 H7C233;P53597 AA705613;ABBA01075723;ABBA01075724;AC096770;AF104921;AK024767;AK125502;AK225737;AK291082;AK296741;AK313290;AMYH01010489;BC000504;BM804835;BP194715;BQ774501;CH471053;CR457139;NG_016755;NM_003849;Z68204 AAD17940;AAH00504;AAY24107;BAF83771;BAG36098;BAH12424;CAA92426;CAG33420;EAW99558;NP_003840;P53597 Hs.270428 1672107;1673137;1681225;2121660;5022578;5022649;5037552 D11S2875;D1S1423;D8S2279;RH68703;RH91265;SHGC-35054;WI-15353 FLJ21114;FLJ43513;G-ALPHA;GALPHA;MTDPS9;SUCLA1 OTTHUMP00000160494;SCS-alpha;succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial;succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial;succinyl-CoA synthetase subunit alpha APPROVED protein-coding ENSG00000163541 11449 18128 245400;611224 REVIEWED 1347236 SUCO SUN domain containing ossification factor 1 1 1 q24 145611714 145690427 + 170768112 170847594 + 172502260 172580973 + 6480464 16344560;11158380;10673381;12477932;19850743;20440000 51430 Q5H945;Q9UBS9 ABBA01027918;AF097535;AF310265;AF310266;AF310267;AF310268;AF310269;AF310270;AF310271;AF310272;AF310273;AF310274;AF310275;AF310276;AF310277;AF310278;AF310279;AF310280;AF310281;AF310282;AF310283;AF310284;AF310285;AF310286;AF310287;AF310288;AF310289;AF310290;AF310291;AF310292;AF310293;AF310294;AF310295;AF310296;AF310297;AF310298;AF310299;AF310300;AF310301;AF310302;AF310303;AF310304;AF310305;AF310306;AF310307;AF310308;AF310309;AF310310;AF310311;AF310312;AF310313;AF310314;AF310315;AF310316;AF310317;AF310318;AF310319;AF310320;AF310321;AF310322;AF310323;AF310324;AF310325;AJ250075;AK302509;AK302949;AL035291;AMYH01001498;AMYH01001499;AMYH01001500;BC137125;BC144487;CH471067;DB093941;NM_014283;NM_016227;Z94054;Z96050 AAF04619;AAI37126;AAK28742;AAK28743;AAK28744;AAK28745;AAK28746;AAK28747;AAK28748;AAK28749;AAK28750;AAK28751;AAK28752;AAK28753;AAK28754;AAK28755;AAK28756;AAK28757;AAK28758;AAK28759;AAK28760;AAK28761;AAK28762;AAK28763;AAK28764;AAK28765;AAK28766;AAK28767;AAK28768;AAK28769;AAK28770;AAK28771;AAK28772;AAK28773;AAK28774;AAK28775;AAK28776;AAK28777;AAK28778;AAK28779;AAK28780;AAK28781;AAK28782;AAK28783;AAK28784;AAK28785;AAK28786;AAK28787;AAK28788;AAK28789;AAK28790;AAK28791;AAK28792;AAK28793;AAK28794;AAK28795;AAK28796;AAK28797;AAK28798;AAK28799;AAK28800;AAK28801;AAK28802;BAG63786;BAG64105;CAA22894;CAB57360;EAW90929;EAW90930;EAW90931;EAW90932;EAW90933;EAW90934;NP_055098;NP_057311;Q9UBS9 Hs.743437 1645896;1692810;1692856;1707842;1853007;2168616 D1S2496;G42271;G42295;SHGC-75904;SHGC-82153;WI-16356 C1orf9;CH1;OPT;SLP1 OTTHUMP00000032706;OTTHUMP00000032707;SUN domain-containing ossification factor;SUN-like protein 1;membrane protein CH1;osteopotentia;protein C1orf9;protein osteopotentia homolog APPROVED protein-coding ENSG00000094975 1240 12732 VALIDATED 1353653 SUCNR1 succinate receptor 1 This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009] 3 3 3 q25.1 150009552 150017998 + 153074127 153082340 + 151591431 151599876 + 1331358;1331359;6480464 11273702;15141213 19204147;17192395;15489334;12477932;10737800;20694011;22497252 56670 Q9BXA5 ABBA01058902;AC068647;AF247785;AF348078;AK290420;AMYH01013581;AMYH01013582;BC030948;BI031507;CH471052;EU432110;NM_033050 AAH30948;AAK29080;AAL95690;ABM86821;ABY87909;BAF83109;EAW78789;EAW78790;NP_149039;Q9BXA5 Hs.279575 GPR91 G protein-coupled receptor 91;G-protein coupled receptor 91;OTTHUMP00000216828;P2Y purinoceptor 1;P2Y purinoceptor 1-like;succinate receptor 1 APPROVED protein-coding ENSG00000198829 4542 16211 606381 REVIEWED 1312779 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010] 3 3 3 p14.1 67353993 67645444 - 67507833 67787728 - 67410884 67705038 - 1580863;2306915;6480464;6907045 17403370 9765291;15234968;15489334;12477932;10873456;10471510;9110174;8619474;19615732;20161066;20379614;20800603;20877624;20677014;21295139;22939629;22990118;20881960;21145461;22144915;21628590;21139048;21890473;23146381;22190034 8801 E9PDQ8;H0Y852;Q96I99 ABBA01030880;ABBA01030881;AC099783;AC112213;AC113169;AC114401;AF058954;AF131748;AK294598;AK310527;AL050226;AMYH01013257;BC007716;BC019868;BC035149;BC047024;BC068602;CH471055;NM_001177599;NM_003848;R41924 AAC64397;AAD20032;AAH07716;AAH19868;AAH35149;AAH47024;AAH68602;BAH11821;CAB43323;EAW65456;EAW65457;NP_001171070;NP_003839;Q96I99 Hs.644919 1341430;1679690;1684028;1689883;1728543;1757371;1759299;1762619;1765413;1784744;1796898;1848854;2126466;2137919;2145962;2149508;2187308;5021892 D3S3524;G20754;G63710;RH15624;RH17211;RH41686;SHGC-144767;SHGC-146425;SHGC-148900;SHGC-150997;SHGC-154310;SHGC-17267;SHGC-57937;SHGC-77034;SHGC-77068;SUCLG2__1210;T02885;ha2344 G-BETA;GBETA GTP-specific succinyl-CoA synthetase beta subunit;GTP-specific succinyl-CoA synthetase subunit beta;OTTHUMP00000213363;OTTHUMP00000213364;OTTHUMP00000213365;SCS-betaG;succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial;succinyl-CoA ligase, GDP-forming, beta chain, mitochondrial;succinyl-CoA synthetase beta-G chain;succinyl-CoA synthetase, beta-G chain 2315897 GLUCO187_H APPROVED protein-coding ENSG00000172340 11450 06799 603922 REVIEWED 1626140 SUGT1P2 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 2 3 3 3 p22.3 32733057 32734147 + 32769405 32770415 + 32794322 32795412 + 728706 ABBA01024927;AC138972;AMYH01013064;NG_006446 APPROVED pseudo 31377 INFERRED 1605050 SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae) SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008] 12 12 12 q24.23 118447308 118488791 + 117298741 117340223 + 118814358 118855840 + 6480464 11909966;12670868;19070953;17081983;15489334;14702039;12724404;12477932;11214971;22662218;16387653;16919237;21239494;22443383;19471022;21693764;22113938;22984288 64426 J3KPW1;Q9H7L9 AA916093;ABBA01020059;ABBA01020060;AC026367;AK023801;AK024460;AK026749;AMYH01004786;BC030252;BC045728;BC093990;BC098404;BC112000;BX647687;CH471054;NM_022491 AAH30252;AAH93990;AAH98404;AAI12001;BAB14685;BAB15750;EAW98137;EAW98138;EAW98139;EAW98140;EAW98141;NP_071936;Q9H7L9 Hs.416630;Hs.602312 1684810;1688249;1782650;5493263 RH81039;RH94298;SHGC-149425;UniSTS:485516 FLJ00052;MGC104711;SAP45;SDS3 45 kDa Sin3-associated polypeptide;OTTHUMP00000239703;sin3 histone deacetylase corepressor complex component SDS3;sin3A-associated protein, 45kDa;suppressor of defective silencing 3 protein homolog APPROVED protein-coding ENSG00000111707 29545 12196 608250 VALIDATED 1605159 SUGT1P1 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 1 9 9 9 p13.3 33430827 33441237 - 33499507 33511047 - 33500754 33511164 - 16344560;12477932 441394 ABBA01065049;AL139008;AMYH01019324;BE264023;DA804368;DB133316;NR_003667 Hs.521441 MGC15151;SGT1P;SUGT1P;bA255A11.1 APPROVED pseudo 19384 18367 VALIDATED 1314432 SUGP2 SURP and G patch domain containing 2 This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009] 19 19 19 p12 19006510 19049196 - 18962702 19005368 - 19101697 19144380 - 6480464 16713569;16565220;15489334;15302935;15057824;12594045;12477932;9205841;20211142;22939629;22446626;22586326;21628590 10147 A8K5G0;E7ETX7;M0R065;M0R1Y3;M0R216;M0R2Y3;M0R2Z9;M0R3F6;Q8IX01 AB002363;ABBA01051303;ABBA01051304;ABBA01051305;ABBA01051306;AC004447;AF518874;AI039052;AK025508;AK074842;AK291275;AK299860;AL832488;AMYH01009605;BC020586;BX647813;BX647933;CH471106;CR627095;DC335817;NM_001017392;NM_014884 AAC06129;AAH20586;AAN77117;BAA20820;BAF83964;BAG61716;CAI46012;CAI46117;CAI46255;EAW84766;EAW84767;EAW84768;EAW84769;EAW84770;EAW84771;EAW84772;EAW84773;NP_001017392;NP_055699;Q8IX01 Hs.515271 2122782;5015690;5015861;5022578;5022649;5022773;5037552;7185938 D10S16;D11S2875;D19S845E;D1S1423;D8S2279;SFRS14;WI-14313 DKFZp686M2322;DKFZp779L2418;FLJ21855;SFRS14 SURP and G-patch domain-containing protein 2;arginine/serine-rich 14 splicing factor;arginine/serine-rich-splicing factor 14;putative splicing factor, arginine/serine-rich 14;splicing factor, arginine/serine-rich 14 APPROVED protein-coding ENSG00000064607 18641 10469 607993 REVIEWED 1354374 SULT sulfotransferase 6816 11452 1321429 SUGP1 SURP and G patch domain containing 1 SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003] 19 19 19 p13.11 19291389 19335381 - 19248322 19292307 - 19387322 19431321 - 6480464 17332742;12226669;18029348;15489334;15057824;14702039;12594045;12477932;12176931;19060906;19656773;20864672;22939629;20686565;21139048 57794 B4DVK3;K7EK16;K7ELR6;K7EM86;K7ES12;K7ESM0;Q8IWZ8 ABBA01051321;ABBA01051322;ABBA01051323;AC003967;AC004475;AC022543;AF521128;AK092745;AK096152;AK292085;AK294618;AK301119;AL137286;AL713757;AMYH01009607;AY072916;AY072917;BC001043;BC002986;BC063784;BC119728;BC119729;BC142988;CB960848;CH471106;DC363162;NM_172231 AAC08052;AAH63784;AAI19729;AAI19730;AAI42989;AAL68960;AAL68961;AAN77123;BAF84774;BAG52606;BAG57801;BAG62715;CAB70678;CAD28528;EAW84808;EAW84809;EAW84810;EAW84811;EAW84812;NP_757386;Q8IWZ8 Hs.515274 1783832 SHGC-156040 DKFZp434E2216;F23858;RBP;SF4 RNA-binding protein RBP;SURP and G-patch domain-containing protein 1;splicing factor 4 APPROVED protein-coding ENSG00000105705 18643 10468 607992 VALIDATED 1346700 SUFU suppressor of fused homolog (Drosophila) The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 10 10 q24.32 104253754 104383199 + 104263719 104393214 + 1599191;5510013;6480464;6484113;6907045;7240710 12068298;20716670 10564661;10559945;18029348;19432668;19055941;18997815;18829525;18077375;16691619;16189514;15489334;15367681;15164054;15077159;14611647;12975309;12477932;12426310;11960000;11252182;10806483;22666390;22508808;22365972;16344560;16385451;19022373;19533801;19833601;17002296;20211142;20819778;21451052;22958902;21317289;21209912;21188540;21543335;21210262;11001584;21139048;21890473;21906983;22318606;22829011 51684 Q9UMX1 ABBA01063143;ABBA01063144;ABBA01063145;ABBA01063146;ABBA01063147;ABBA01063148;ABBA01063149;ABBA01063150;ABBA01063151;AF144231;AF159447;AF172319;AF175770;AF222345;AK307370;AK311503;AK312319;AL121928;AL137465;AL157386;AL391121;AMYH01003018;AMYH01003019;AMYH01003020;AY081829;AY358550;BC013291;CH471066;DA248208;NG_021338;NM_001178133;NM_016169 AAD50501;AAD51655;AAF23890;AAF23893;AAF35866;AAH13291;AAM08947;AAQ88914;ABM83512;ABM86730;BAG35241;CAB70752;EAW49681;EAW49682;EAW49683;EAW49684;NP_001171604;NP_057253;Q9UMX1 Hs.404089 1336726;1337832;1645354;1682325;1758439;1762659;1764473;1848415;2144504 D10S1267;D10S1697;G17424;G17444;RH93916;SHGC-146455;SHGC-148076;SHGC-148339;STS-W86982 PRO1280;SUFUH;SUFUXL OTTHUMP00000020374;OTTHUMP00000020377;OTTHUMP00000020378;OTTHUMP00000020379;suppressor of fused homolog APPROVED protein-coding ENSG00000107882 16466 06124 155255;607035;607174 REVIEWED 1346021 SUGT1P3 suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3 13 13 13 q14.11 22428579 22553283 - 40269127 40393886 - 41486023 41495910 - 6480464 14702039;12477932 283507 Q5T9E9 ABBA01021287;AF086053;AL157877;AMYH01005059;BC020814;NR_003365 Hs.442781;Hs.660718 1672308;1687045;1694668;1730427;1733294;1737511;1798190;2110961;2173398;2177163 1342;D13S1045;D13S188;D13S230E;D13S649;G43515;RH17529;RH91229;SHGC-32460;SLC25A15_1851 SUGT1L1 APPROVED pseudo ENSG00000239827 20513 VALIDATED 1316810 SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) This gene is homologous to the yeast gene SGT1, which encodes a protein involved in kinetochore function and required for the G1/S and G2/M transitions. Complementation studies suggest that the human protein has similar functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 13 13 q14.3 52125002 52160434 + 53226831 53262433 + 1580863;6480464;6907045 10445024;18358234;17466273;17420470;16964243;15592455;15489334;15346769;15342556;15018354;12746458;12665801;12477932;22261722;19398558;19615732;20404110;20126976;19875381;23184943;22863883;22939629;22990118;19471022;14761955;17435760;21113133;14676191;18781797;20360068;21864708;20213445;18818696;21139048;21890473;21906983;22869522 10910 F5H5A9;Q9Y2Z0 ABBA01037066;AF132856;AJ344097;AK291402;AK292128;AK302363;AL139089;AMYH01005126;AY271314;AY321358;BC000911;BP225371;BT009798;CH471124;NG_029521;NM_001130912;NM_006704 AAD30062;AAH00911;AAP88800;AAQ01749;AAQ76039;ABM81871;ABM85034;BAF84091;BAF84817;BAG63688;CAC51433;EAW52043;EAW52044;EAW52045;EAW52046;NP_001124384;NP_006695;Q9Y2Z0 Hs.281902 1658871;1693580;2109907;2173398;5019022 1342;G42926;RH78334;SHGC-58486;SUGT1_9192 SGT1 OTTHUMP00000018461;OTTHUMP00000178675;SGT1B protein;protein 40-6-3;putative 40-6-3 protein;suppressor of G2 allele of SKP1 homolog;suppressor of G2 allele of SKP1, S. cerevisiae, homolog of APPROVED protein-coding ENSG00000165416 16987 604098 REVIEWED 733350 SULF1 sulfatase 1 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF1, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008] 8 8 q13.1 70541427 70735701 + 70378859 70573147 + 1580863;6480464 22524839;12368295;19487294;19006069;18687675;18507859;18503048;17437011;17363371;16344560;16192265;15817123;14702039;14699503;12686563;12477932;11230166;10470851;20677014;19373441;19520866;19666466;19780053;20083228;20379614;20602915;21214932;21228115;21266348;21599997;21832049;16778174;21722266;23457216;23053899;19953087;21732829;21998595;22581228;22873647;22653794;19822709 23213 E9PI06;E9PJL8;E9PLS5;E9PPQ3;E9PS14;H0YDR1;Q8IWU6 AB029000;ABBA01041923;ABBA01041924;ABBA01041925;AC013746;AC022790;AC091047;AF545571;AK055467;AK055607;AK074873;AK095341;AK123744;AK307951;AL136772;AMYH01018780;AY101175;BC012997;BC068565;BX571746;CH471068;DA234578;DA726387;DA745191;NM_001128204;NM_001128205;NM_001128206;NM_015170 AAH12997;AAH68565;AAM76860;AAO33315;ACE86575;ACE87258;BAA83029;BAC11258;CAB66706;CAE11871;EAW86953;EAW86954;EAW86955;NP_001121676;NP_001121677;NP_001121678;NP_055985;Q8IWU6 Hs.409602 1684862;1704506;1706480;1715545;1733490;1780160;2152731 D8S1059;RH121420;RH47887;RH98994;SHGC-154482;SHGC-81126;SHGC-83020 FLJ30905;FLJ38022;FLJ41750;HSULF-1;KIAA1077;SULF-1 OTTHUMP00000226760;OTTHUMP00000226761;OTTHUMP00000226762;extracellular sulfatase Sulf-1;sulfatase FP APPROVED protein-coding ENSG00000137573 20391 15450 610012 VALIDATED 68509 SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] 16 16 p12.1 28510767 28515892 - 28603264 28608391 - 1300048;1580863;6480464 16133548;20417180;9119390;19343046;18992148;18632753;18259693;17425406;12477932;12469224;12419832;12373301;11535246;11207031;11154739;10762004;10720750;10617600;9566757;9034160;8912648;8697101;8661000;8033246;7889867;7581483;19692168;19915574;20214802;20529763;20935630;20936502;21906983;22623531;21890473;23128233 6799 E9PKR8;E9PKW4;E9PM76;P50226 ABBA01043647;AC020765;AMYH01007436;BC025763;BC052280;BC113727;BC113729;NG_032570;NM_001054;NM_177528;U28169;U28170;U33886;U34804;U72202;U76619;X78282 AAB08970;AAB09658;AAB09659;AAB09758;AAB18753;AAC51149;AAI13728;AAI13730;CAA55088;NP_001045;NP_803564;P50226 Hs.546304 1676500;1678517;1733218;1744863;1745595;1745597;2116432;5117558;5117664 D16S3176;GDB:574032;GDB:579633;GDB:594646;GDB:625839;GDB:625858;RH70266;RH80061;SHGC-60826 HAST4;MGC142287;MGC142289;P-PST;ST1A2;STP2;TSPST2 OTTHUMP00000045745;OTTHUMP00000236243;P-PST 2;aryl sulfotransferase 2;arylamine sulfotransferase;phenol sulfotransferase 2;phenol-preferring phenol sulfotransferase2;phenol-sulfating phenol sulfotransferase 2;phenolic-metabolizing (P) form of PST;sulfotransferase 1A2;sulfotransferase family 1a, member 2;thermostable phenol sulfotransferase APPROVED protein-coding ENSG00000197165 11454 03187 601292 REVIEWED 1604886 SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010] 16 16 29373902 29383783 + 29471207 29476301 + 6480464 8117269;8363592;17425406;15752422;15358107;11154739;10720750;9034160;7961757;12477932;22939629 445329 H3BNY7;H3BRT0;P50224;Q1ET61;Q1ET66 AB111093;AB111094;AB111095;AB111096;AB111097;AB111098;AB111099;AC133555;AK298073;AMYH01007494;BC078144;BC132914;BC132920;BC144354;BC144355;BC171772;L25275;L34160;NM_001017390;U08032;U34199 AAA17723;AAA36523;AAC99987;AAH78144;AAI32915;AAI32921;AAI44355;AAI44356;AAI71772;BAE94927;BAE94928;BAE94929;BAE94930;BAE94931;BAE94932;BAE94933;BAG60362;NP_001017390;P50224 Hs.460558 1676706;1685391;1687692;1733218;1744201;1744409;1745599;1745601;1788776;5112303;5117514;5117558;5117664 D16S3176;GDB:435498;GDB:453889;GDB:574035;GDB:579633;GDB:594646;GDB:626005;GDB:626032;RH103211;RH133600;RH69023;RH80591;RH92261 FLJ54864;HAST3;M-PST;ST1A3/ST1A4;SULT1A3;TL-PST HAST3;M-PST;OTTHUMP00000243886;ST1A3/ST1A4;TL-PST;aryl sulfotransferase 1A3/1A4;catecholamine-sulfating phenol sulfotransferase;monoamine-sulfating phenol sulfotransferase;phenol sulfotransferase;placental estrogen sulfotransferase;sulfokinase;sulfotransferase 1A3/1A4;sulfotransferase, monoamine-preferring;thermolabile phenol sulfotransferase APPROVED protein-coding ENSG00000213648 30004 18659 REVIEWED 4144689 SULT1C2P1 sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 2 2 2 q12.3 103246960 103278521 + 108305126 108336687 + 108938694 108970255 + 14676822;14702039 151234 ABBA01000753;ABBA01000754;AC019100;AK056906;AMYH01010853;NR_037191 Hs.447681 1335835 D2S1889 SULT1C1P sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 pseudo ENSG00000237223 33545 VALIDATED 1606856 SULT1C3 sulfotransferase family, cytosolic, 1C, member 3 2 2 2 q12.3 103171922 103190078 + 108230083 108248239 + 108863651 108881807 + 6480464 17936463;20379614;17425406;15815621;14676822 442038 Q6IMI6 ABBA01000753;AC019100;AMYH01010853;BK001432;NM_001008743 AAI46363;DAA01770;DAA01771;NP_001008743;Q6IMI6 Hs.535156 ST1C3 OTTHUMP00000203449;sulfotransferase 1C3 protein-coding ENSG00000196228 33543 18131 PROVISIONAL 1605577 SULT1D1P sulfotransferase family, cytosolic, 1D, member 1, pseudogene Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008] 4 4 4 q13.3 68010915 68032914 - 70692079 70714278 - 70657591 70679590 - 6480464 18085818;14676822;11688987;20210993 133150 ABBA01022921;AC108941;AMYH01014271;NG_002642 2122784 SHGC-9349 SULT1D1 APPROVED pseudo 30659 INFERRED 1312895 SULF2 sulfatase 2 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008] 20 20 q12-q13.2 45719559 45848215 - 46286150 46415360 - 6480464 12368295;16417632;16331886;16192265;15489334;12975309;12477932;12168954;11780052;11549316;10574462;12107413;14702039;18507859;18687675;18937294;19190338;19520866;19855436;20707913;20725905;21040406;21441931;21599997;21968018;21347431;21890473;23455922;23457216;22293178;22623531;22410125;22158045 55959 B1AMP9;G3XAE6;H0Y872;Q8IWU5 AB033073;ABBA01052709;ABBA01052710;AI824415;AK074483;AK075035;AK126452;AK308829;AL034418;AL121777;AL133001;AL354813;AL550624;AMYH01011951;AMYH01011952;AMYH01011953;AY101176;AY358461;BC020962;BC073790;BC090952;BC110538;BC110539;BX370010;CD673642;CH471077;CR749319;NM_001161841;NM_018837;NM_198596 AAH20962;AAH73790;AAH90952;AAI10540;AAM76861;AAQ88826;ACE86802;ACE87489;ACE87784;ACT64451;BAA86561;CAB61349;CAH18174;EAW75690;EAW75691;EAW75692;EAW75693;EAW75694;EAW75695;NP_001155313;NP_061325;NP_940998;Q8IWU5 Hs.162016 1684208;1753285;1766395;2183843 RH93899;SHGC-149737;SHGC-85658;STS-N26808 DKFZp313E091;FLJ44488;FLJ90554;HSULF-2;KIAA1247;MGC126411 OTTHUMP00000031223;OTTHUMP00000031226;OTTHUMP00000215977;extracellular sulfatase Sulf-2 APPROVED protein-coding ENSG00000196562 20392 18130 610013 VALIDATED 1354463 SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008] 4 4 4 q13.3 67945644 67979390 - 70627275 70661019 - 70592686 70626430 - 1299514;6480464 9443824 9463486;19343046;17425406;16804942;15489334;12477932;11688987;11535246;11368519;11329013;11154739;10720750;9034160;19898482;21044950 27284 D6RD70;D6RIA8;O43704 ABBA01022921;AC125239;AF184894;AMYH01014271;BC010895;BG461453;CH471057;D89479;NM_014465;U95726 AAB65154;AAF05917;AAH10895;BAA24547;EAX05595;NP_055280;O43704 Hs.129742 MGC13356;ST1B1;ST1B2;SULT1B2 OTTHUMP00000159773;sulfotransferase 1B1;sulfotransferase 1B2;sulfotransferase family cytosolic 1B member 1;thyroid hormone sulfotransferase APPROVED protein-coding ENSG00000173597 17845 07088 608436 REVIEWED 735435 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 16 16 p12.1 28524414 28542367 - 28616908 28634907 - 1581436;1581437;1581438;1581439;1581441;1581442;1581446;1581447;1581448;1581449;1581451;1581452;1581453;1581454;1581455;1625563;1580863;1300048;2301046;2301048;2301051;2301050;2301040;2301044;2301045;2301049;2301047;6480464;5129558 16985250;16328031;16175316;15894657;14688021;14643027;12469224;12165038;12455060;11692076;16402077;16137826;15531517;14973106;10959796;15942020;16875543;15377847;12373301;18368507;18318428;17619904;18497059;16080486;16637266;19250197 14648207;14642079;14618622;14520706;12867492;12867416;12814450;12761191;12725421;12477932;12471039;12468438;12419832;12419790;12402313;12162852;11804685;11739018;11535246;11470991;11219777;11207031;11156380;11154739;10762004;10720750;9855620;9566757;9345314;9034160;9014197;8924211;8912648;8484775;8423770;8363592;8288252;8093002;8033270;8033246;7864863;7695643;7581483;8661000;19424794;19350537;19343046;19339270;19322015;19307236;19237513;19126640;19120511;18990750;18854828;18794456;18632753;18499698;18447907;18365755;18264785;18259693;18006944;17996038;17947222;17912498;17605044;17603900;17479406;17425406;17372243;17372239;17293380;17274372;17244352;17189289;17074589;17013894;16985032;16926176;16575574;16504378;16425401;16418064;16395669;16380991;16317586;16284375;16280036;16272171;16232327;16221673;16141802;16133548;16103451;16006997;15987423;15970794;15952058;15949571;15743503;15632378;15604994;15516026;15489334;15455371;15383623;15318931;15122594;15093672;15090717;14871892;22524828;22708928;22678655;20529763;20620409;20634891;20663177;19484729;19575027;19706609;19776291;19789190;19863350;19904771;19906068;19915574;19949855;19956635;20032816;20142249;20192879;20204402;20214802;20309015;20437850;20505544;20505990;20528568;20417180;20565970;20734064;20881232;20936502;21072184;20628863;21111704;21695180;22939629;10737800;15489335;8889548;23080433;22081606;21890473;21906983;22011087;21670965;21977969;23128233 6817 H3BMH9;H3BQX5;H3BRY5;H3BT96;P50225 AB062428;AB209149;ABBA01043645;ABBA01043646;AC020765;AJ007418;AL558375;AMYH01007438;AMYH01007439;AMYH01007440;BC000923;BC110887;BG482944;BG990719;BI459867;BI460081;BM927749;BM984308;BT007324;CV023878;L10819;L15346;L19955;L19999;NG_028128;NM_001055;NM_177529;NM_177530;NM_177534;NM_177536;U09031;U26309;U37025;U52852;U54701;U71086;X78283;X84654 AAA02935;AAA18613;AAA35562;AAA60595;AAA67895;AAA99892;AAB09597;AAB09759;AAC50480;AAC51816;AAH00923;AAI10888;AAP35988;ABM81921;ABM85098;BAB93491;BAD92386;CAA07495;CAA55089;CAA59147;NP_001046;NP_803565;NP_803566;NP_803878;NP_803880;P50225 Hs.567342;Hs.736805 1678517;1744863;1745591;1745595;1745597;5117558;5117664;5117873 GDB:574032;GDB:579633;GDB:594646;GDB:625673;GDB:625839;GDB:625858;GDB:625988;RH70266 HAST1/HAST2;MGC131921;MGC5163;P-PST;PST;ST1A1;ST1A3;STP;STP1;TSPST1 OTTHUMP00000162568;OTTHUMP00000162569;P-PST 1;aryl sulfotransferase 1;phenol sulfotransferase 1;phenol-preferring phenol sulfotransferase1;phenol-sulfating phenol sulfotransferase 1;sulfotransferase 1A1;sulfotransferase family 1a, phenol-preferring, member 1;thermostable phenol sulfotransferase;thermostable phenol sulfotransferase1;ts-PST APPROVED protein-coding ENSG00000196502 11453 01372 171150 REVIEWED 1347398 SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010] 16 16 p11.2 30113244 30123151 + 30210549 30215650 + 1580863;6480464 19447296;17963788;17425406;17002600;16083857;15752422;15489334;15358107;14871892;14702039;14622112;12761191;12477932;12424257;12228221;11535246;11154739;10720750;10617600;10608851;10543947;10336855;9034160;8912648;8363592;8187949;8117269;8093002;7961757;7829089;7802665;7695643;7695637;16344560;17433394;17876860;17891604;17908235;19122289;19131519;19171676;19178765;19646966;19679676;21168432;21832049;21900206;22352375;21906983 6818 H3BPL6;H3BRT0;P50224;Q1ET61;Q1ET66 AB111093;AB111094;AB111095;AB111096;AB111097;AB111098;AB111099;ABBA01013099;AC106782;AI672638;AK298073;AMYH01007497;BC078144;BC132914;BC132920;BC144354;BC144355;BC171772;DA978913;L25275;NM_177552;U08032;U08099;U20499;U34199;U37686 AAA17723;AAA36523;AAA64490;AAA82126;AAA86536;AAC99987;AAH78144;AAI32915;AAI32921;AAI41505;AAI44355;AAI44356;AAI56740;AAI71772;ADR82917;BAE94927;BAE94928;BAE94929;BAE94930;BAE94931;BAE94932;BAE94933;BAG60362;NP_808220;P50224 Hs.460558;Hs.741198 1676706;1685391;1687692;1733218;1744201;1744409;1745599;1745601;1788776;5112303;5117514;5117558;5117664 D16S3176;GDB:435498;GDB:453889;GDB:574035;GDB:579633;GDB:594646;GDB:626005;GDB:626032;RH103211;RH133600;RH69023;RH80591;RH92261 HAST;HAST3;M-PST;MGC117469;ST1A3/ST1A4;ST1A5;STM;SULT1A4;TL-PST OTTHUMP00000045746;OTTHUMP00000045747;ST1A3/ST1A4;aryl sulfotransferase 1A3/1A4;catecholamine-sulfating phenol sulfotransferase;dopamine-specific sulfotransferase;monoamine-preferring sulfotransferase;monoamine-sulfating phenol sulfotransferase;monoamine-sulfating phenosulfotransferase;phenol sulfotransferase 1A5;phenol sulfotransferase 1A5*4;placental estrogen sulfotransferase;sulfokinase;sulfotransferase 1A3/1A4;sulfotransferase, monoamine-preferring;thermolabile (monoamine, M form) phenol sulfotransferase;thermolabile phenol sulfotransferase APPROVED protein-coding ENSG00000261052 11455 07199 600641 REVIEWED 1314184 SULT1C2 sulfotransferase family, cytosolic, 1C, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 2 2 q12.3 108271527 108292803 + 108905095 108926371 + 1580863;6480464 9169148;18029348;19343046;17425406;16804942;16507781;15489334;12477932;11740338;11535246;11154739;11077054;10783263;10720750;10481272;9852044;9635888;9034160;7642552;19898482;20453000;16341674;20819778;21139048;21044950 6819 B4DLP0;B8ZZF7;C9JSR0;H7BZ17;H7C420;O00338 AA856596;AB008164;ABBA01000753;AC019100;AF026303;AF186251;AF186252;AF186253;AF186254;AF186255;AF186256;AF186259;AF186262;AI986284;AK297086;AK298306;AK313193;AL832145;AMYH01010853;BC005353;BM849361;BT006951;CH471182;NM_001056;NM_176825;R86241;U66036 AAC00409;AAC51285;AAF72799;AAF72800;AAF72801;AAF72802;AAF72803;AAF72804;AAF72805;AAF72806;AAH05353;AAP35597;AAY14790;BAA28346;BAG36010;BAG59602;BAG60560;EAW53889;EAW53890;NP_001047;NP_789795;O00338 Hs.436123 1336693;2157484;2160954;5014051;5015619;5022200;5022651;5037552;5038511;5093474;7185382 A009P25;D11S2921;D11S3114;D2S340;D8S2278;D8S2279;G32739;L18426;RH17525;WI-16746 ST1C1;ST1C2;SULT1C1;humSULTC2 OTTHUMP00000161571;OTTHUMP00000161572;OTTHUMP00000203304;OTTHUMP00000203390;OTTHUMP00000203867;SULT1C#1;sulfotransferase 1C1;sulfotransferase 1C2 APPROVED protein-coding ENSG00000198203 11456 03858 602385 REVIEWED 1347018 SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. [provided by RefSeq, Jul 2008] 2 2 2 q12.3 103302687 103312533 + 108360853 108370702 + 108994421 109004270 + 1580863;6480464 9852044;17425406;15815621;12477932;11535246;11154739;10783263;10720750;9034160 27233 O75897;Q08AS5 ABBA01000754;AC068941;AF186263;AK297851;AK298755;AMYH01010853;BC058861;BC125043;CH471182;DQ987914;NM_006588 AAF72810;AAH58861;AAI25044;AAY14742;ABI75348;BAG60183;BAG60897;EAW53885;EAW53886;NP_006579;O75897 Hs.312644 2218066 SULT1C2_3157 MGC149521;MGC34422;SULT1C;SULT1C2 OTTHUMP00000161573;OTTHUMP00000203388;OTTHUMP00000203389;ST1C4;SULT1C#2;sulfotransferase 1C2;sulfotransferase 1C4;sulfotransferase family, cytosolic, 1C, member 2;sulfotransferase family, cytosolic, 1C, member C2 APPROVED protein-coding ENSG00000198075 11457 07461 608357 REVIEWED 1344997 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010] 19 19 q13.3 53065682 53081405 - 48373723 48389654 - 1580863;2325883;5129555;6480464;6893649;6893648;5129558;6907045 18821018;16099924;16617014;22542949;19250197 11988089;1520333;21841322;1588921;2268288;19598235;19343046;18684447;18656962;18505908;18042734;17426092;17425406;17276571;16469813;16360722;15878968;15713538;15489334;15388788;14573603;12477932;12399026;12167565;11990382;21513704;11950791;11535246;11172807;10854859;10775806;10720750;10541560;9034160;8575776;8299591;8142314;7736787;7710689;7678732;7598806;7589785;1569919;19420132;20102295;20214802;21988832;23132913;23211525;23362278;21533175;23256751;22445027;23436881;22797925 6822 A8K015;Q06520 ABBA01041062;AC024582;AC124853;AK289380;AK313415;AMYH01009889;BC020755;BG563083;BX509490;CH471126;EU522670;L02337;L20000;L36196;NG_016745;NM_003167;S43859;S43861;U08024;U08025;U13061;X70222;X84816 AAA17749;AAA17750;AAA35758;AAA75491;AAB23169;AAC51353;AAH20755;ABM82091;ABM85272;ACB21041;BAF82069;BAG36209;CAA49755;CAA59274;EAW57516;EAW57517;NP_003158;Q06520 Hs.515835 1744163;1744165;1777256;2123110;2154198;5022578;5037552 D1S1423;D8S2279;GDB:433813;GDB:433815;RH11574;SHGC-11998;STS-U13061 DHEA-ST;DHEAS;HST;ST2;ST2A1;ST2A3;STD;hSTa OTTHUMP00000222076;alcohol/hydroxysteroid sulfotransferase;bile salt sulfotransferase;bile-salt sulfotranasferase 2A1 APPROVED protein-coding ENSG00000105398 11458 00502 125263 REVIEWED 1626598 SULT6B1 sulfotransferase family, cytosolic, 6B, member 1 2 2 2 p22.2 37235972 37256698 - 37248467 37269194 - 37394963 37415690 - 17425406;15815621;14676822;12477932;20832056 391365 C9JFH2;Q6IMI4 ABBA01074978;AC007899;AMYH01010259;AY289770;AY289771;AY289772;AY289773;AY289774;AY289775;BC140797;BC144573;BC144574;BK001437;CH471053;NM_001032377 AAI40798;DAA01772;EAX00405;NP_001027549;Q6IMI4 Hs.631892 OTTHUMP00000201330;ST6B1;sulfotransferase 6B1;sulfotransferase SULT6B1;thyroxine sulfotransferase protein-coding ENSG00000138068 33433 PROVISIONAL 1351097 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008] 4 4 q13.1 70741519 70760459 - 70706930 70725870 - 1580863;2301040;2302564;1581439;2302565;2302563;6480464;6893583;6907045 18318428;16908442;15894657;16895976;17372239;21693170 8185618;7779757;19551860;19429440;19343046;18831980;18794456;18794126;18467089;17661084;17425406;17293380;17187396;16985250;16969590;16418064;16189514;16169070;15489334;15355916;15188402;14556660;14507642;12782487;12477932;11884392;11688987;11535246;11154739;10720750;10541560;9348232;9034160;8971138;8603401;8530066;7961757;19776291;19898482;20025931;20142249;20214802;20379614;20381444;20505544;18029348;20429582;21548389;21543429;21828262;21764778;21073915;22380844;22197379 6783 H0Y8G0;P49888;Q53X91 ABBA01022921;AC108941;AK310845;AK312236;AMYH01014271;AY436634;BC027956;CH471057;CR407621;CS691411;NM_005420;S77383;U08098;U20521;U55764;Y11195 AAA82125;AAB34601;AAB51658;AAC50286;AAH27956;AAQ97179;BAG35169;CAA72079;CAG28549;CAP12208;EAX05597;NP_005411;P49888 Hs.479898 1674087;1676538;1768032;2109909;5016781 RH71211;SHGC-10625;SHGC-67307;SHGC-67359;SULT1E1_8653 EST;EST-1;MGC34459;ST1E1;STE OTTHUMP00000159769;ST1E1;estrogen sulfotransferase;estrone sulfotransferase;sulfotransferase 1E1;sulfotransferase, estrogen-preferring APPROVED protein-coding ENSG00000109193 11377 08966 600043 REVIEWED 1603799 SUMO1P2 SUMO1 pseudogene 2 1 1 1 q24.2 141977158 141978092 + 167133871 167135014 + 168867347 168868281 + 12383504;9465300 474337 ABBA01027957;AL135926;AMYH01001488;NG_004725 bA375F2.1 pseudo 33149 INFERRED 1601782 SUMO1P3 SUMO1 pseudogene 3 1 1 1 q22 133355818 133357027 + 158553679 158554888 + 160287055 160288264 + 6480464 12383504;9465300;8889549 474338 AA021599;ABBA01016612;AL513282;AMYH01001452;NR_002190 Hs.621179 1686514;2181063 D4S3307;RH25959 pseudo 33150 PROVISIONAL 1603798 SUMO1P4 SUMO1 pseudogene 4 19 19 19 q13 46645132 46646598 - 54470007 54471664 - 49778283 49779749 - 12383504 101290502 AC011450;NG_033172 pseudo 33151 INFERRED 2292053 SUMO1P5 SUMO1 pseudogene 5 5 5 q23 118527174 118534791 + 122571664 122579281 + 12383504;9465300 474341 ABBA01068944;AC010493;AMYH01015588;NG_021192 pseudo 33152 INFERRED 1318906 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008] 19 19 q13.3 53747241 53794496 + 49055429 49102684 + 6480464;6907045 11457664;9799594;12145317;11416019;19343046;18586095;17626250;17496163;17425406;17347498;16189514;15953604;15878639;15489334;15140224;15063762;15057824;14741047;14702039;14676143;12923182;12477932;12399026;11594786;11535246;11154739;10720750;9034160;21840698;21146170;19060904;19243756;20214802;20329768;17207965 6820 O00204 ABBA01032982;ABBA01032983;ABBA01032984;ABBA01032985;AC008403;AK096418;AMYH01009903;AMYH01009904;BC034694;CH471177;NG_029063;NM_004605;NM_177973;U92314;U92315;U92316;U92317;U92318;U92319;U92320;U92321;U92322 AAC78498;AAC78499;AAC78553;AAC78554;AAH34694;ADQ32321;EAW52354;EAW52355;NP_004596;NP_814444;O00204 Hs.369331 5015404;5016478;5016596 GDB:434012;GDB:631802;L17705 HSST2 ST2B1;alcohol sulfotransferase;hydroxysteroid sulfotransferase 2;sulfotransferase 2B1;sulfotransferase family cytosolic 2B member 1 APPROVED protein-coding ENSG00000088002 11459 04991 604125 REVIEWED 1350239 SUMO2P1 SUMO2 pseudogene 1 6 6 6 p22.1 31209315 31210365 - 29711113 29712335 - 29603231 29604281 - 6480464 22118674 285829 ABBA01038033;AL031983;AL645936;AL662826;AL929591;AMYH01016196;BX120002;CR388210;CR388408;CR759766;CR936483;NG_002750;NG_029101 SMT3Bp;SMT3H2P;SUMO2P;dJ271M21 APPROVED pseudo 13985 INFERRED 5684579 SUMO2P2 SUMO2 pseudogene 2 9 p21.3 23632104 23632353 + 100859924 ABBA01065155;AL445623;AMYH01019278;NG_031946 APPROVED pseudo 39012 INFERRED 4144300 SUMO2P3 SUMO2 pseudogene 3 7 7 p11.2 55767111 55768300 + 55799717 55800706 + 9847074 652489 ABBA01061821;AC091812;AMYH01017273;NG_005815 APPROVED pseudo 39013 INFERRED 4144409 SUMO2P4 SUMO2 pseudogene 4 5 5 q13.1 65364003 65364287 - 68364752 68365027 - 100288757 ABBA01048290;AC010273;AMYH01015144;NG_028715 APPROVED pseudo 39014 INFERRED 736677 SULT4A1 sulfotransferase family 4A, member 1 This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008] 22 22 q13.2 42551720 42589711 - 44220387 44258378 - 68861;1580863;6480464 10698717 19439498;19343046;19125109;18823757;17425406;16152568;15489334;15461802;14702039;14623933;12529303;12477932;12039030;11535246;11154739;10720750;10591208;9034160;21521020;20819778;21044950;23386860 25830 B7Z2E1;F8WE22;Q9BR01 ABBA01014583;AF115311;AF176342;AF188698;AF251263;AK091700;AK294622;AK295399;AK313048;AL590119;AL832543;AMYH01012830;AMYH01012831;BC022459;BC028171;BC030665;CH471138;CR456588;NM_014351;Z97055 AAF21970;AAF61197;AAF98152;AAH22459;AAH28171;AAH30665;AAK64595;ABM83299;ABM86509;BAG35880;BAH11827;BAH12056;CAC34872;CAG30474;CAK54619;CAK54918;EAW73317;EAW73318;EAW73319;EAW73320;NP_055166;Q9BR01 Hs.189810 1334748;1661918;1676328;1730557;1747533;1747535;1747537;1747547;1747549;1747551;1772693;1798234;2119670;2119672 A001X01;A003P41;D22S1012E;D22S1165;D22S297;G19733;G65391;G65392;G65393;G65394;G65436;G65437;IB1320;SULT4A1_2458 BR-STL-1;BRSTL1;DJ388M5.3;MGC40032;NST;SULTX3;hBR-STL-1 OTTHUMP00000180667;OTTHUMP00000197813;ST4A1;brain sulfotransferase-like protein;brain sulphotransferase-like;hBR-STL;nervous system cytosolic sulfotransferase;nervous system sulfotransferase;sulfotransferase 4A1;sulfotransferase-related protein APPROVED protein-coding ENSG00000130540 14903 07462 608359 REVIEWED 4146108 SUMO2P5 SUMO2 pseudogene 5 5 74521249 74521493 + 100526738 ABBA01061942;AC008769;AMYH01015409;NG_027890 APPROVED pseudo 39015 INFERRED 5490910 SUMO2P8 SUMO2 pseudogene 8 6 108938604 108939614 - 100506244 ABBA01026143;AL391646;AMYH01016580;NG_029319 APPROVED pseudo 39018 INFERRED 4144231 SUMO2P7 SUMO2 pseudogene 7 17 17 17 q21.33 44774055 44774342 + 45668205 45668492 + 48313206 48313490 + 100131823 ABBA01041234;AC015909;AMYH01008471;NG_027891 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 7 APPROVED pseudo 39017 INFERRED 4771795 SUMO2P6 SUMO2 pseudogene 6 5 5 5 q35.2 170022981 170023268 + 173921317 173922037 + 173988778 173989065 + 100127922 ABBA01044013;AC108112;AMYH01015832;NG_027875 APPROVED pseudo 39016 INFERRED 1320552 SUMF1 sulfatase modifying factor 1 This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 3 3 p26.1 4377830 4483954 - 4402829 4508966 - 1599192;1580863;6480464;7240710 12757705 19262745;18579805;18509892;18508857;18305113;18178549;18157819;17932120;17657823;17446859;17206939;16368756;16303743;15962010;15907468;15657036;15489334;15146462;14702039;12975309;12757706;12477932;16344560;8012384;20802204;21224894;21963094;23288839 285362 E9PF05;F5GXA0;Q53ZE4 AB448737;ABBA01020470;AC024168;AC034191;AK057983;AK075459;AK094111;AK295240;AK302018;AMYH01012948;AY208752;AY323910;AY358092;BC017005;BC110862;BC121122;BC121123;BG705404;CA413741;CH471055;CQ866665;DA844846;NG_016225;NM_001164674;NM_001164675;NM_182760;Z62057;Z65851 AAH17005;AAI10863;AAI21123;AAI21124;AAO34683;AAP86217;AAQ88459;BAB71625;BAC11634;BAG58233;BAG63417;BAH11168;CAH25965;EAW63906;EAW63907;NP_001158146;NP_001158147;NP_877437;Q8NBK3 Hs.350475 1673981;1704956;1775311;2106667;2116654;2116656;5014051;5022651;5037552 336XF5;A005O21;D11S2921;D8S2278;D8S2279;G20376;SHGC-76663;SHGC-77977;SUMF1__5353 AAPA3037;FGE;MGC131853;MGC150436;UNQ3037 C-alpha-formylglycine-generating enzyme 1;FGly-generating enzyme;OTTHUMP00000115300;OTTHUMP00000207086;OTTHUMP00000207088;OTTHUMP00000207089;sulfatase-modifying factor 1 APPROVED protein-coding ENSG00000144455 20376 06399 272200;607939 REVIEWED 1601685 SUMO1P1 SUMO1 pseudogene 1 20 20 20 q13.2 49195682 49196894 - 51924557 51925658 - 52491037 52492248 - 6480464 12477932;12383504;9671742;9465300;21906983;22885925 391257 ABBA01052865;AC005220;AMYH01011995;BC065723;NR_002189 Hs.449977 1646735 WI-16748 PIC1L;UBL2;UBL6 pseudo 33148 PROVISIONAL 1349479 SUMF2 sulfatase modifying factor 2 The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 q11.1 56099411 56115859 + 56131917 56148365 + 1580863;6480464 18266766;16344560;16303743;15962010;15708861;15687489;15489334;15342556;15231748;14563551;12975309;12853948;12757706;12757705;12477932;8889548;16169070;19739097;20000738;21890473;21906983;21078624;19322201;22190034 25870 A8MXB9;C9J660;C9JL30;E9PBT8;E9PG02;F8WA42;F8WCW9;F8WES7;F8WEV7;F8WEX5;H7C3B2;J3KQJ1;J3QT17;Q9Y405 ABBA01061849;ABBA01061850;AC092101;AF075046;AK075477;AK297042;AK297793;AK298605;AK300488;AK301627;AL050037;AMYH01017277;AMYH01017278;AMYH01017279;AY323911;AY359103;BC000224;BC006159;BC015600;BC065222;BC084539;BC111092;BM423367;BP256067;BP296294;CA439848;CF131206;CH471140;CR936749;CR936757;CS051309;CX164099;DA130450;DA917807;DA924174;DB010869;NM_001042469;NM_001042470;NM_001130069;NM_001146333;NM_015411 AAH00224;AAH06159;AAH15600;AAH84539;AAI11093;AAP86218;AAQ89461;AAS07452;BAC11643;BAG59569;BAG60133;BAG60789;BAG62203;BAG63112;CAB43247;CAI72149;EAX07975;EAX07976;EAX07977;EAX07978;EAX07979;EAX07980;EAX07981;EAX07982;EAX07983;EAX07984;EAX07985;EAX07986;NP_001035934;NP_001035935;NP_001123541;NP_001139805;NP_056226;Q8NBJ7 Hs.279696 1686336;1725627;1725771;1847008;2127921;2147282;5015861;5024649;5037552;5109281;7185938 D10S16;D1S1425;D8S2279;G62070;G62095;RH46930;RH65154;RH65370;RH93783;SHGC-32082 DKFZp566I1024;DKFZp686I1024;DKFZp686L17160;DKFZp781L1035;MGC99485;pFGE C-alpha-formyglycine-generating enzyme 2;C-alpha-formylglycine-generating enzyme 2;OTTHUMP00000159739;OTTHUMP00000208555;OTTHUMP00000208556;OTTHUMP00000208560;OTTHUMP00000208561;OTTHUMP00000208562;OTTHUMP00000208571;OTTHUMP00000209372;OTTHUMP00000209373;OTTHUMP00000209374;paralog of the formylglycine-generating enzyme;sulfatase-modifying factor 2 APPROVED protein-coding ENSG00000129103 20415 06400 607940 REVIEWED 1349888 SUMO4 small ubiquitin-like modifier 4 This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008] 6 6 q25 149763188 149763875 + 149721495 149722182 + 6480464;7240710 16236267;19410319;19222990;19122825;18708028;18657476;18466531;18466472;18330586;17990297;17926234;17660269;17558709;17554341;17459725;17452059;17374705;17373940;17229939;17130565;17130563;17130532;17130530;16821265;16755651;16735488;16306380;16249223;16198310;16159953;15730420;15678137;15678135;15678134;15247916;15123604;14574404;12901503;8733139;8072542;20868570;20728233;21158221;12477932;19915388;19956095;20448286;20518843;21906435;22884980;21906983;22425950;22318606;21098080;21139048;21890473;21963094;21987572;23000965;21671169;22936652;23042402;22505724;21901353 387082 Q6EEV6 AB205057;ABBA01025682;AL031133;AMYH01016734;AY340238;BC130305;CH471051;NG_012301;NG_021386;NM_001002255 AAI30306;AAR04484;ADR82794;BAH05006;CAA20019;EAW47808;NP_001002255;Q6EEV6 Hs.657168 1338883;1340330;7186264 D6S264;D6S441 IDDM5;SMT3H4;SUMO-4;dJ281H8.4 OTTHUMP00000017390;SMT3 suppressor of mif two 3 homolog 2;SMT3 suppressor of mif two 3 homolog 4;small ubiquitin-like modifier 4 protein;small ubiquitin-related modifier 4;smt3 suppressor of mif two 3 homolog 4 (yeast) APPROVED protein-coding ENSG00000177688 21181 10584 600320;608829 REVIEWED 1346569 SUMO2 small ubiquitin-like modifier 2 This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 17 17 q25.1 70675420 70690693 - 73163825 73179098 - 6480464 16553580;16524884;16055710;15870296;15489334;15487983;15479240;15456902;15296745;15272016;12924945;12810706;12665592;12590135;12477932;12383504;12161447;11889051;11489887;11451954;11283016;11029585;10692421;9556629;9452416;9119407;8630065;8125298;15383276;19394292;19332021;19041634;19029252;18946085;18708356;18694876;18565875;18374647;18081309;17164289;17012228;16904644;16626738;16567619;18442052;18644859;16169070;22203040;22318606;22689573;15940266;16475184;16608850;17000875;18424718;19217413;20029837;20188669;20719936;20826694;21145359;21949651;21998312;22155184;22467880;22825850;22878415;20797634;16356933;16424386;20016594;20016603;11731474;16428449;16442531;16494873;16600910;16620772;16713569;16955485;17000644;17077080;17491593;17696781;18408734;18806873;19597476;19615732;19635839;19638612;19919826;20181954;17369852;20881090;22578841;23077236;23086935;23092970;23128241;23155000;23211528;23284737;23383273;21291420;22939629;22942279;19307308;20943951;21878624;20663916;20696768;20935639;21062750;21147198;21148299;21362625;21383010;21454548;21554500;21616059;21624955;21746851;21779164;21987572;22118674;22194612;16862185;20026589;21316347;21900206;21940674;22034919;22661230;16236267;19471022;21139048;21693764;21890473;21900752;21906983;21252943;15105549;15958389;17081986;18538659;18681895;19322201;19553342;19684601;19843541;20212317;21098080;22354964;22398289;15806172;23504328;23530056;23543742;23560854;20802522;21963094;21988832;22053931;22810585;23000965;15175327;22505724;22797925;22922005;22930759;22942423;23012367;22306003;23078246 6613 J3KRH1;P61956 ABBA01028811;ABBA01028812;AC022211;AK024823;AK225090;AK225263;AK311837;AMYH01008630;BC008450;BC016775;BC022340;BC062713;BC068465;BC070159;BC071645;BC071646;BC107853;BF700114;BG778261;CH471099;L76416;NM_001005849;NM_006937;X99585 AAD45399;AAH08450;AAH16775;AAH22340;AAH62713;AAH68465;AAH70159;AAH71645;AAH71646;AAI07854;ABM83962;ABM87276;BAG34779;CAA67897;EAW89249;EAW89250;NP_001005849;NP_008868;P61956 Hs.380973;Hs.546298 5124438 RH47248 HSMT3;MGC117191;SMT3B;SMT3H2;SUMO3;Smt3A SMT3 homolog 2;SMT3 suppressor of mif two 3 homolog 2;sentrin 2;small ubiquitin-like modifier 2;small ubiquitin-related modifier 2;smt3 suppressor of mif two 3 homolog 2 (yeast);ubiquitin-like protein SMT3A;ubiquitin-like protein SMT3B APPROVED protein-coding ENSG00000188612 11125 04332 603042 REVIEWED 1352324 SUN3 Sad1 and UNC84 domain containing 3 7 7 7 p12.3 48126024 48167993 - 47993270 48035241 - 48026745 48068716 - 6480464 18029348;12690205;19193627;12498619;12477932;20379614 256979 E7EWC8;F8WDT4;H7BZA7;H7C2N0;Q8TAQ9 AACC02000093;ABBA01041080;AC069279;AF429967;AK302011;AMYH01017234;BC026189;BG772576;BU623138;CH236958;CH471128;DQ099386;NM_001030019;NM_152782 AAH26189;AAP97300;AAZ13762;BAG63413;EAL23808;EAW60999;EAW61000;NP_001025190;NP_689995;Q8TAQ9 Hs.406741 2177356 AFMa139yg5 MGC33329;SUNC1 OTTHUMP00000208372;OTTHUMP00000208373;OTTHUMP00000208375;OTTHUMP00000208377;SUN domain-containing protein 3;Sad1 and UNC84 domain containing 1;hypothetical protein MGC33329;sad1/unc-84 domain-containing protein 1 APPROVED protein-coding ENSG00000164744 22429 15451 VALIDATED 1315807 SUMO1 small ubiquitin-like modifier 1 This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 2 2 q33 202779148 202811567 - 203070903 203103322 - 1642482;6480464;7240710 17486098 9885291;12072434;14516784;17081985;8812453;15572661;18579533;14752048;15637059;17696781;9412458;9019411;8806687;19384898;19380586;19297320;19287951;19251700;19041634;19029252;18983974;18978678;18836734;18762900;18707152;18694876;18660489;18592385;18408014;18404132;18211901;18093978;18063693;17976381;17932034;17671677;17509614;17466333;17360386;17320104;17164289;17081983;17060459;17027752;16990542;16955485;16904644;16712526;16690127;16678795;16651613;16631117;16600910;16568089;16563226;16524884;16501610;16494873;16484498;16478998;16478538;16475184;16464864;16460827;16443219;16442531;16428860;16428803;16428449;16421094;16415059;16352666;16204249;16189514;16154161;16125395;16122737;16120648;16117725;16112644;16055710;15959518;15958389;15931224;15923626;15907800;15882793;15881673;15857832;15823533;15815621;15788563;15782135;15723079;15660128;15608651;15507114;21490953;21527745;15489334;15487983;15456902;15355965;15337742;15296745;15272016;15229220;15220454;15123625;15064418;15037602;15016812;14992729;14637113;14609633;14563852;14559918;14527952;14514699;14500761;14500712;12924945;12855578;12832072;12810706;12788062;12769861;12761214;12727872;12679040;12665592;12663783;12646186;12633878;12631292;12626745;12621041;12615929;12590135;12565818;12552083;12529333;12526767;12511558;12477932;12439742;12419227;12393906;12383504;12354770;12297306;12223491;12200128;12193561;12177000;12161447;12150977;12149243;12144530;12060666;12032081;11997515;11960997;11948183;11889051;11867732;11842245;11792325;11735126;11731474;11709553;11583632;11514557;11500040;11420669;11384992;11313457;11278381;11112409;11080164;11078523;10964520;10961991;10862613;10799485;10759568;10694430;10655495;10574707;10535925;10212234;10187798;9891849;9756909;9740801;9734360;9654451;9465300;9442102;9162015;9119407;8978815;8921390;8906799;8889548;15613319;17646165;18348865;9452416;18583933;18403372;18572193;18617892;11716541;12192048;10217437;17353931;16169070;17848550;14701874;11739688;11129635;12606074;11907324;15592428;15546615;10788439;9920803;17704809;21110914;22164242;22370726;22411991;22661230;17344210;20676127;19913121;20501649;20533263;20628086;20634891;20738159;20016603;20537536;20711444;16029420;16030353;16332688;16360037;16424386;19919826;20016594;20584900;15576338;15896780;16098147;16760465;16763556;17000644;17369817;17491593;17525163;17956732;18408734;18691969;19497852;19565496;19596686;19680224;19859084;19889771;19917317;19937600;19955185;20065354;20145208;20544801;18632848;21268066;12740389;12813045;12917636;17549794;20519406;15171703;15465032;15465831;15469925;18625722;20881090;21047957;15876864;15961505;18946085;21044801;20661221;14651848;16166628;16212558;20932933;21189065;21518904;21336309;20351170;11779867;18025037;21284855;21545853;21192925;21123177;22905217;21683690;19465479;20194620;20555024;21829689;19307308;19597476;20360068;20932475;21203974;21563299;21983723;12782728;17036045;18689799;22863883;22939629;22942279;22991139;23092970;19383828;20026656;20233849;20596523;20811994;21167178;21174150;21900893;21252943;21878624;21968017;19246003;19322201;19625650;20026589;20359522;21316347;21957283;18583959;20802522;21988832;22975420;23000965;23395904;23404503;18239466;18781797;20616536;20663916;20671745;20718938;20861261;20935639;20972456;21039605;21057547;21062750;21084637;21148299;21156324;21266332;21288202;21317457;21354147;21383010;21402697;21454548;21516122;21527249;21554500;21616059;21642969;21779164;21791615;21829513;21931855;21987572;22194612;10562557;11160742;11901159;12370286;12388818;14673145;15017387;15060166;15105549;15123615;15144954;15161980;15173587;15175327;15208321;15242646;15327968;15355988;15539951;15561718;15707587;15824120;15831457;15876874;15882978;15952105;15983381;16061479;16148010;16194093;16253240;16731528;16820290;16906147;17000875;17005699;17060450;17081986;17087659;17314004;17391059;17498654;17595526;17823119;18082607;18086888;18211895;18472161;18474224;18538659;18562626;18655774;18656483;18681895;18684836;18706886;18948745;19015637;19046432;19111660;19217413;19218564;19223394;19407830;19416967;19553542;19684601;19692572;19744555;19843541;19946338;19995069;20188669;20300531;20719936;20797634;20805487;20826694;20927612;21098080;21145359;21305000;21474068;21606198;21777808;21816224;21940674;21949651;22155184;22162396;22167194;22203040;22214662;22234371;22318606;22354964;22374677;22379092;22393046;22398289;22403398;22406621;22467880;22493095;22505724;22509369;22555612;22586270;22612509;22651256;22713753;22731716;22751501;22798505;22875967;22878415;22910413;22930759;23012367;23028697;9353268;9427741;9456312;9497385;9658103;16236267;19471022;22194619;21641618;21139048;21693764;21890473;21906983;22227369;22457066;22508508;23152501;15806172;23504328;23530056;23543742;23546875;23604351;23077236;23243001;23407422;23569248;23772552;23788427;19057511;22578841;23086935;23128241;23131550;23150668;23155000;23211528;23229893;23264041;23284737;23382880;23383273;23078246 7341 B8ZZ67;B8ZZJ0;B8ZZN6;B9A032;F8WBI1;P63165 AA401634;AB062294;ABBA01062554;AC079354;AI815216;AK311840;AMYH01011406;AMYH01011407;BC005899;BC006462;BC053528;BC066306;BG503431;BG569821;BQ930026;BT006632;BU532734;CA313671;CH471063;CR542147;CR542156;NG_011679;NM_001005781;NM_001005782;NM_003352;U38784;U61397;U67122;U72722;U83117;X99586 AAB39999;AAB40388;AAB40390;AAC50733;AAC50996;AAH06462;AAH53528;AAH66306;AAP35278;AAY24035;ABM84136;ABM87155;BAB93477;BAG34782;CAA67898;CAG46944;CAG46953;EAW70304;EAW70305;EAW70306;EAW70307;NP_001005781;NP_001005782;NP_003343;P63165 Hs.81424 1682245;1710104;1744281;2116775 A007E47;GDB:451559;RH26240;SHGC-82097 DAP-1;DAP1;GMP1;OFC10;PIC1;SENP2;SMT3;SMT3C;SMT3H3;SUMO-1;UBL1 GAP modifying protein 1;OTTHUMP00000163740;OTTHUMP00000202403;OTTHUMP00000202404;OTTHUMP00000202405;OTTHUMP00000202406;OTTHUMP00000202408;OTTHUMP00000202409;OTTHUMP00000202410;SMT3 homolog 3;SMT3 suppressor of mif two 3 homolog 1;sentrin;small ubiquitin-related modifier 1;smt3 suppressor of mif two 3 homolog 1 (yeast);ubiquitin-homology domain protein PIC1;ubiquitin-like protein SMT3C;ubiquitin-like protein UBL1 APPROVED protein-coding ENSG00000116030 12502 03554 601912;613705 REVIEWED 2289750 SUPT16HP suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 12 12 12 p12.3 21695991 21699220 - 16443476 16446705 - 16552209 16555438 - 400011 ABBA01067901;AC007528;AMYH01004305;NG_009707 1726047;2140015 G62313;RH48778 bcm670 pseudo 31388 INFERRED 1346388 SUMO3 small ubiquitin-like modifier 3 SUMO proteins, such as SUMO3, and ubiquitin (see MIM 191339) posttranslationally modify numerous cellular proteins and affect their metabolism and function. However, unlike ubiquitination, which targets proteins for degradation, sumoylation participates in a number of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability (Su and Li, 2002 [PubMed 12383504]).[supplied by OMIM, Mar 2008] 21 21 q22.3 45049960 45062472 - 46225532 46238044 - 1580863;6480464 18644859;12192048;11889051;16169070;14701874;11739688;17000644;17353931;17696781;9119407;19029252;18946085;18842587;18708356;18694876;18565875;18374647;17164289;17012228;16626738;16608850;16553580;16154602;16055710;15723523;15489334;15487983;15456902;15296745;12924945;12810706;12511558;12477932;12383504;11997515;11451954;10830953;10692421;8125298;16424386;20016603;15940266;17000875;17261810;18082607;18408014;19946338;20188669;20719936;20826694;21145359;21949651;21998312;22467880;22878415;15383276;15576338;16428449;16442531;16494873;16620772;16934752;19050011;19597476;19635839;19919826;20056645;20181954;19394292;22863883;22942279;21518904;21291420;22991139;16196087;20101219;22203040;19471022;23159618;23407422;21252943;18274552;18781797;20549333;20663916;20696768;21062750;21139048;21147198;21362625;21454548;21527249;21693764;21779164;21878624;21900206;21906983;22118674;22194612;22649547;22296450;21900752;22291911;15105549;17081986;18538659;18681895;21098080;22354964;23530056;23604351;21890473;21963094;21987572;22053931;23000965;23077236;15175327;22505724;22930759;22942423;22306003;22492558;23078246;23092970;23128241;23155000;23284737 6612 A8MU27;A8MUA9;B4DUW4;P55854 ABBA01074174;ABBA01074175;ABBA01074176;AK222591;AK300822;AK312350;AL773603;AMYH01012298;AMYH01012299;BC000036;BC008420;BT007008;CH471079;CR542173;CR542188;NM_006936;X99584 AAH00036;AAH08420;AAP35654;BAD96311;BAG35271;BAG62476;CAA67896;CAG46970;CAG46985;EAX09390;EAX09391;EAX09392;EAX09393;NP_008867;P55854 Hs.474005 1655478;1735026;2157094;2168860;5109699;5124067 D12S2014;D1S1929E;D21S1722E;D21S1937;RH26902;SHGC-87715 SMT3A;SMT3H1;SUMO-3;Smt3B OTTHUMP00000115275;OTTHUMP00000115276;OTTHUMP00000115277;SMT3 homolog 1;SMT3 suppressor of mif two 3 homolog 1;SMT3 suppressor of mif two 3 homolog 3;SUMO-2;small ubiquitin-related modifier 3;smt3 suppressor of mif two 3 homolog 3 (yeast);ubiquitin-like protein SMT3A;ubiquitin-like protein SMT3B APPROVED protein-coding ENSG00000184900 11124 03754 602231 VALIDATED 1344534 SUPT20HL1 suppressor of Ty 20 homolog (S. cerevisiae)-like 1 X X X p22.11 28503761 28506424 + 24290331 24336420 + 24380878 24383541 + 21145461;15772651 100130302 Q3ZLR7 ABBA01072319;AC004552;AMYH01022162;AMYH01022163;AY736017;NM_001136234 AAW59547;NP_001129706;Q3ZLR7 Hs.717243 1337387;1644040 AFM309vb1;DXS8099 FAM48B1 family with sequence similarity 48, member B1;hypothetical protein LOC100130302;protein FAM48B1;transcription factor SPT20 homolog-like 1 APPROVED protein-coding 30773 INFERRED 1322098 SUN2 Sad1 and UNC84 domain containing 2 SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010] 22 22 q13.1 37460681 37481893 - 39130719 39152024 - 1580863;6480464 10818110;20551905;10375507;17353931;16380439;10508607;17827388;17132086;17081983;16381901;15489336;15489334;15461802;14615979;12958361;12477932;12393179;12239280;11230166;11076863;10591208;9734811;9110174;8619474;19019082;18029348;18396275;19615732;19933576;15146197;20108321;22990118;21655223;19167051;21139048;21906983;22170055;22632968 25777 B0QY60;B0QY63;B0QY64;B0QY65;B0QY66;B0QY67;B0QY68;B0QY69;B4E2A6;H0Y686;J3KQE0;Q9UH99 AB014568;ABBA01055533;ABBA01055534;ABBA01055535;AF038178;AF202723;AK295787;AK304188;AL021707;AMYH01012765;AY682988;BC030684;BC069253;BC094797;BC111549;BC111717;BE675617;BI908715;BX537962;CB988569;CD365855;CH471095;CN299688;CR456474;DC400744;NM_001199579;NM_001199580;NM_015374 AAF15887;AAH30684;AAH69253;AAH94797;AAI11550;AAI11718;AAT90500;BAA31643;BAG58608;BAG65068;CAD97926;CAG30360;CAK54455;CAK54754;CAL37638;EAW60265;EAW60266;EAW60267;EAW60268;EAW60269;EAW60270;EAW60271;NP_001186508;NP_001186509;NP_056189;Q9UH99 Hs.517622;Hs.744734 1699174;1722439;1748389;2153995;2154867;2167548 D22S1548;G60295;G65739;RH103167;STS-N32043;WI-20331 KIAA0668;MGC133055;MGC133056;UNC84B OTTHUMP00000198989;OTTHUMP00000198990;OTTHUMP00000199094;SUN domain-containing protein 2;Sad1 unc-84 domain protein 2;nuclear envelope protein;protein unc-84 homolog B;rab5-interacting protein;rab5IP;sad1/unc-84 protein-like 2;unc-84 homolog B APPROVED protein-coding ENSG00000100242 14210 15611 613569 VALIDATED 1347213 SUPT20HL2 suppressor of Ty 20 homolog (S. cerevisiae)-like 2 X X X p22.11 28451951 28454321 - 24236303 24244963 - 24328979 24331432 - 15772651;21906983 170067 P0C7V6 ABBA01072318;AC096509;AMYH01022162;NM_001136233 NP_001129705;P0C7V6 Hs.716893 1644040;1702508 AFM309vb1;DXS1115E FAM48B1;FAM48B2 family with sequence similarity 48, member B1;family with sequence similarity 48, member B2;putative protein FAM48B2;putative transcription factor SPT20 homolog-like 2 APPROVED protein-coding 31797 PROVISIONAL 1343381 SUN1 Sad1 and UNC84 domain containing 1 This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010] 7 7 p22.3 822778 881083 + 855194 914557 + 1580863;6480464 19240061;17724119;17631499;17132086;17081983;16445915;16344560;16079285;15489334;14702039;12958361;12477932;12036294;11593002;10375507;9872452;8889548;20108321;18029348;18396275;19851296;19933576;20198315;20379614;21727197;16380439;21311568;22632968;21139048;21890473;21906983;22541428;22190034 23353 A4D2Q0;C9JJU6;C9JK55;C9JR15;C9JS54;C9K051;E7EP45;E9PHI4;F8WD13;H0Y6N5;H0Y742;H7C019;H7C2K3;H7C3X3 AACC02000129;AB018353;ABBA01039305;ABBA01039306;AC099731;AF202724;AK022469;AK022816;AK025737;AK074320;AK093851;AK128170;AK302896;AK304150;AK309120;AMYH01016941;AMYH01016942;AY776160;BC013613;BC113916;BC142707;BC151827;BC152418;BM689998;BX538211;BX640866;BX648893;BX649069;CH236965;CH471144;DA112466;DA666453;DA738650;NM_001130965;NM_001171944;NM_001171945;NM_001171946;NM_025154 AAF15888;AAH13613;AAI42708;AAI52419;AAV52793;BAA34530;BAB14046;BAG51119;BAG64069;BAG65040;CAD98070;EAL23707;EAW87174;EAW87175;EAW87176;EAW87177;EAW87178;NP_001124437;NP_001165415;NP_001165416;NP_001165417;NP_079430;O94901 Hs.438072 1663476;1674721;1677778;1690660;1762829;2129378;2152272;5022651;5037552 A004D11;D11S2921;D7S2644;D8S2279;RH48864;RH80180;RH94009;SHGC-146602;STS-N29675 FLJ12407;KIAA0810;MGC176649;UNC84A OTTHUMP00000199968;OTTHUMP00000199969;OTTHUMP00000199971;OTTHUMP00000199972;OTTHUMP00000199973;OTTHUMP00000199974;OTTHUMP00000199975;SUN domain-containing protein 1;Sad1 unc-84 domain protein 1;protein unc-84 homolog A;sad1/unc-84 protein-like 1;unc-84 homolog A APPROVED protein-coding ENSG00000164828 18587 16257 607723 REVIEWED 2301497 SUPT4H1P SUPT4H1 pseudogene 2 2 p12 75708715 75710054 - 75877435 75878774 - 100190947 ABBA01075624;AC005034;AMYH01010457;NG_008701 1677398 RH98919 pseudo 33981 INFERRED 1348806 SUPT4H2 suppressor of Ty 4 homolog 2 (S. cerevisiae) 6828 11468 1343879 SUPT20H suppressor of Ty 20 homolog (S. cerevisiae) 13 13 q13.3 36481449 36531850 - 37583449 37633850 - 737633;6480464 12477932 16751104;16713569;16685401;16344560;15978328;15498874;15489334;15057823;14702039;12070015;11340631;8125298;18838386;17643375;19114550;19615732;19893488;20936779;21988832 55578 B4E2D5;C9JQS2;E7ER46;H7C5F9;Q8NEM7;R4GND2 ABBA01021345;ABBA01021346;AF093250;AF370384;AF445026;AJ130894;AK026091;AK027554;AK056121;AK093723;AK225376;AK292376;AK304227;AL138706;AL391383;AMYH01005041;BC001145;BC030686;CH471075;DA593337;HY034874;NM_001014286;NM_001278480;NM_001278481;NM_001278482;NM_017569 AAD40550;AAH01145;AAH30686;AAL38587;AAQ15220;ABM82547;ABM87825;BAF85065;BAG51343;BAG65097;CAB62207;EAX08582;EAX08583;EAX08584;EAX08585;EAX08586;NP_001014308;NP_001265409;NP_001265410;NP_001265411;NP_060039;Q8NEM7 Hs.435815 1670984;1734846;1848559;2118281;2119431;2152594;2162471;2162473;2167754;2183967;5017751;5022032 A001V34;D2S1596E;EXOSC8;G15847;G19693;RH11262;RH44456;RH67933;STS-W67447;WI-15841;WI-18055;btcn2837 C13;C13orf19;FAM48A;FP757;P38IP;SPT20;bA421P11.4 OTTHUMP00000018265;OTTHUMP00000214947;OTTHUMP00000214948;OTTHUMP00000214949;OTTHUMP00000214950;family with sequence similarity 48, member A;p38 interacting protein;p38-interacting protein;protein FAM48A;transcription factor (p38 interacting protein);transcription factor SPT20 homolog;tumor rejection antigen APPROVED protein-coding ENSG00000102710 20596 10135 613417 VALIDATED 1314928 SUN5 Sad1 and UNC84 domain containing 5 20 20 20 q11.21 28325457 28346116 - 31035242 31055900 - 31571581 31592239 - 1580863;6480464 12621555;15489334;14702039;12477932;11988320;11780052;10373309;9691178;20237496;21832049;23314748;21711156 140732 A9Z1W8;Q5TDX8;Q5TDX9;Q8TC36 ABBA01019246;AF401350;AK097733;AL121756;AL139826;AMYH01011852;BC026118;BC029528;CH471077;HC007294;HC044585;NM_080675 AAH26118;AAH29528;AAM90665;CBH19452;CBH30622;EAW76342;EAW76343;EAW76344;EAW76345;NP_542406;Q8TC36 Hs.375186 1644686 Z94710 MGC33594;SPAG4L;TSARG4;dJ726C3.1 OTTHUMP00000030618;OTTHUMP00000030621;SUN domain-containing protein 5;sad1 and UNC84 domain-containing protein 5;sperm associated antigen 4-like;sperm-associated antigen 4-like protein;testis and spermatogenesis related gene 4;testis and spermatogenesis-related gene 4 protein APPROVED protein-coding ENSG00000167098 16252 15422 613942 VALIDATED 733312 SUOX sulfite oxidase Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008] 12 12 q13.2 54677310 54685576 + 56391043 56399309 + 1600114;1600121;1580863;1300048;6480464;7240710 15144217;12112661 9428520;18959753;18529001;18198356;18177044;17940249;17366837;16475804;16344560;16229463;16140720;15489334;14729666;14567685;12832761;12763039;12477932;12424234;12368985;10519592;9600976;7599189;20063894;20491442;20877624;19850743;22263579;21988832;22975842;22885925;22951725 6821 F8VPA2;F8VRK9;F8VVW9;F8VX56;P51687 ABBA01008397;AC034102;AK312763;AMYH01004497;AU121557;AU126450;AY056018;BC065193;CH471054;HM013717;L31573;NG_008136;NM_000456;NM_001032386;NM_001032387 AAA74886;AAH65193;AAL08048;ADG45310;BAG35629;EAW96867;EAW96868;EAW96869;EAW96870;EAW96871;NP_000447;NP_001027558;NP_001027559;P51687 Hs.558403 2141638;2166225;2170501;2183590;5491912 RH44785;RH71366;SHGC-76317;STS-AA026389;Suox OTTHUMP00000158619;OTTHUMP00000242964;OTTHUMP00000242966;OTTHUMP00000242967;OTTHUMP00000242968;OTTHUMP00000243019;OTTHUMP00000243020;OTTHUMP00000243021;sulfite oxidase, mitochondrial APPROVED protein-coding ENSG00000139531 11460 06055 272300;606887 REVIEWED 1313449 SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 6 6 p21.1-p21.3 44904447 45453648 - 44794467 45345788 - 1580863;6480464 9787080;11564863;18206972;9726987;10373431;19259136;18519826;18391951;17967894;12660246;12601814;12477932;11406595;11238933;9885574;9674425;18838386;22407027;16494529;18839057;19615732;19893584;20379614;15932940;18250150;20628086;18029348;17375202;20946988;20937768;14702039;16344560;19471022;22763110;20881960;22504420;22941190;23251661;23044487 8464 B4E1H0;O75486;Q5VWT9 ABBA01050631;ABBA01050632;ABBA01050633;ABBA01050634;ABBA01050635;ABBA01050636;AF069734;AF073930;AF279781;AK092340;AK303838;AK313874;AL096865;AL138880;AL161905;AL360272;AL391118;AL499610;AMYH01016324;AMYH01016325;BC035816;BC050384;CH471081;DA012115;NM_001261823;NM_003599;NM_181356 AAC36098;AAC39904;AAH35816;AAH50384;ABZ92456;BAG36602;BAG64782;EAX04274;EAX04275;EAX04276;NP_001248752;NP_003590;NP_852001;O75486 Hs.368325 1650016;1660768;1669860;1670404;1675201;1695738;1705560;1752821;1752969;1767495;1786038;1797226;2109911;2118219;2131853;2138197;2139545;2152951 D6S1336;D6S1928;D6S2025;G02272;G19202;GDB:313573;RH16435;RH77889;RH79022;Runx2;SHGC-106694;SHGC-106818;SHGC-155467;SHGC-37680;SHGC-56456;SHGC-82662;SHGC-83885;SUPT3H_8812 FLJ35021;SPT3;SPT3L OTTHUMP00000016530;OTTHUMP00000043628;OTTHUMP00000043629;SPT3-like protein;transcription initiation protein SPT3 homolog protein-coding 11466 04254 602947 VALIDATED 1320698 SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009] 14 14 q11.2 20889475 20922265 - 21819631 21852425 - 6480464 19214185;20562859;10421373;12676794;18406329;17567985;17209051;17081983;16977311;16902406;16713563;16682447;15616580;15489334;14702039;14660563;14559993;12934006;12477932;12393879;11239457;10912001;10792464;9836642;9489704;18206970;15546612;21145461;21319273;19615732;16522924;19394292;19454010;19666485;18036521;23182705;23383273;20603019;18781797;21055985;17403666;16622419;21182205;22863883;22939629;17361185;19322201;21113133;21628590;21679440;21252943;19471022;21907836;21139048;21532573;21549307;21693764;21890473;21906983;22031019;19836239;20599239;22174317;22505724 11198 G3V2X0;G3V401;G3V5A4;Q9Y5B9 ABBA01061245;AF164924;AK001719;AK024072;AK091676;AL135744;AMYH01005595;BC000565;BC012582;BC014046;BC064561;BC073849;BC111402;BP872403;CH471078;NG_009932;NM_007192 AAF28231;AAH00565;AAH14046;AAH64561;AAH73849;AAI11403;EAW66386;EAW66387;NP_009123;Q9Y5B9 Hs.213724 1654799;1654824;1773999;1774001;2115213;2123649;2138900;2140015;2172357;2179329;2218068;2219128 A004V16;A005R45;D14S1321;G20455;G29214;G35908;HELSNF1__6709;RH48778;SUPT16H_3543;WI-14045;WI-20203;WI-20832 CDC68;FACTP140;FLJ10857;FLJ14010;FLJ34357;SPT16/CDC68 FACT 140 kDa subunit;FACT complex subunit SPT16;OTTHUMP00000028337;chromatin-specific transcription elongation factor 140 kDa subunit;facilitates chromatin remodeling 140 kDa subunit;facilitates chromatin transcription complex subunit SPT16;hSPT16 APPROVED protein-coding ENSG00000092201 11465 16088 605012 REVIEWED 1313667 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) 10 10 q22.1 70609999 70638855 + 70939993 70968849 + 1580863;6480464 12466530;9925937;18063578;18678873;17961633;17373700;17352692;16176273;15919122;15096047;12477932;11154739;7566098;22610502;21145461;16385451;19509288;19864255;20877624;20186120;21139048;23221631;19322201 6832 B1AR60;Q8IYB8 ABBA01019602;AF042169;AK290416;AK299670;AL596223;AMYH01002806;BC036112;CH471083;NM_003171 AAB97370;AAH36112;ABM81930;ABM85109;BAF83105;BAH13097;EAW54314;EAW54315;NP_003162;Q8IYB8 Hs.106469 1339945;1644197;2108545 D10S1647;SUPV3L1_8661;WI-13637 SUV3 ATP-dependent RNA helicase SUPV3L1, mitochondrial;OTTHUMP00000019719;SUV3-like protein 1;suppressor of var1 3-like protein 1;suppressor of var1, 3-like 1(SUV3) protein-coding ENSG00000156502 11471 05493 605122 PROVISIONAL 1314951 SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] 17 17 q21-q23 53777538 53784562 - 56422539 56429563 - 6480464 18373978;9450929;9857195;10075709;8649394;12676794;19210550;17502349;16214896;15489334;15380072;15136722;15060154;14702039;12718890;12653964;12612062;12477932;12391174;11553615;11112772;10912001;10757782;10454543;10199401;8786137;16169070;17962196;19860741;19952111;20211142;21832049;22939629;21139048;21890473;21900206;21906983;15342556;7566098;22422068;22505724;22570620 6827 D3DTZ5;J3KSQ6;J3QR04;J3QSB9;P63272 AA311965;ABBA01041334;AC004687;AI342302;AI735030;AK129758;AK311986;AMYH01008512;BC002802;BG026473;BP196741;BP318625;BX331655;CH471109;CR407663;FN160415;NM_003168;NR_073470;U38817;U38818;U43923 AAB07814;AAB18674;AAB18675;AAH02802;ABZ92239;BAC85230;BAG34925;CAG28591;EAW94464;EAW94465;EAW94466;EAW94467;NP_003159;P63272 Hs.439481;Hs.718477 1661589;1665695;1672042;1677398;1682421;1767703;1777933;2176709;2187152;2189397;2191643;5119124;5123272 D12S1371;D17S1419E;MARC_3557-3558:966881413:1;MARC_4325-4326:991938466:1;RH35987;RH45569;RH68148;RH70634;RH93017;RH98919;STS-H72889;WI-11652;WI-21001 SPT4;SPT4H;SUPT4H DRB sensitivity-inducing factor 14 kDa subunit;DRB sensitivity-inducing factor small subunit;DSIF p14;DSIF small subunit;hSPT4;small hSpt4 subunit;transcription elongation factor SPT4 protein-coding ENSG00000213246 11467 16026 603555 REVIEWED 1602227 SUPT7L suppressor of Ty 7 (S. cerevisiae)-like SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] 2 2 2 p23.3 27719150 27731920 - 27727183 27739953 - 27873679 27886449 - 6480464 15870280;10987294;18250150;15815621;15728473;15561718;15489334;12477932;11564863;9872452;16169070;17375202;17967894;17643375;19615732;17141982;23382074;19471022;21693764;23044487 9913 B4E3W3;O94864 AB018307;ABBA01045214;AC074091;AF197954;AF224759;AK000329;AK000616;AK304889;AMYH01010199;BC045638;BC074000;CH471053;CR456983;NM_014860 AAG28523;AAG47636;AAH74000;AAX93202;BAA34484;BAG65625;CAG33264;EAX00556;NP_055675;O94864 Hs.6232 1655143;1665170;1683076;1685315;1847473;1854386;2108943;2163903;2171502;2180817;2180819 A003N16;A004H41;A006H24;G20810;RH12249;RH26796;RH98653;SGC32173;SGC33027;STAF65_5331.2;WI-15326 KIAA0764;MGC90306;SPT7L;STAF65;STAF65(gamma);STAF65G;SUPT7H OTTHUMP00000200851;OTTHUMP00000200852;OTTHUMP00000200853;OTTHUMP00000200854;SPTF-associated factor 65 gamma;STAF65gamma;STAGA complex 65 gamma subunit;STAGA complex 65 subunit gamma;adenocarcinoma antigen ART1;suppressor of Ty 7-like APPROVED protein-coding ENSG00000119760 30632 18115 612762 PROVISIONAL 2902595 SURF6P1 surfeit 6 pseudogene 1 Y Y Y q11.221 4649099 4658376 + 17805820 17815097 + 19296426 19305703 + 9847074 643470 AC006999;NG_016547 2188577;5023001 G66334;sY2844 pseudo 37722 INFERRED 1319556 SUPT6H suppressor of Ty 6 homolog (S. cerevisiae) 17 17 17 q11.2 23848329 23888285 + 24013429 24053376 + 26989302 27029249 + 6480464 17234882;8786132;17081983;15489334;15060154;12477932;9514752;9480761;9110174;8724849;8619474;22586326;21518874;17643375;19615732;19141475;22990118;19471022;20972266;21139048;21890473;21906983;22171252;22316138;22053931;22505724;22843687 6830 J3QS64;K7EK85;Q96AH3 ABBA01015049;ABBA01015050;AC010761;AF070532;AK126585;AL833607;AMYH01008280;AMYH01008281;BC003692;BC003696;BC017105;BC033074;BC073963;BC136522;BC136524;BC150268;CH471159;D79984;HI574126;NM_003170;U38623;U38658 AAB18949;AAC28631;AAC99996;AAH03692;AAH03696;AAH17105;AAH33074;AAH73963;AAI36523;AAI36525;AAI50269;BAA11479;CBX47552;EAW51116;EAW51117;EAW51118;EAW51119;NP_003161;Q7KZ85 Hs.250429 1679131;1685710;1689131;1689921;5014563;5015619;5016478;5022927;5037552;5491240 D11S3114;D8S2279;GDB:434012;L17676;MARC_3295-3296:991936968:1;RH25380;RH67050;RH71444;RH79803;ksks304 KIAA0162;MGC87943;SPT6;SPT6H;emb-5 hSPT6;tat-CT2 protein;tat-cotransactivator 2 protein;transcription elongation factor SPT6 protein-coding ENSG00000109111 11470 03211 601333 VALIDATED 1346289 SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) 19 19 q13 44628164 44659150 + 39936186 39967310 + 1580863;6480464 23041311;10075709;9450929;9512541;9790902;12676794;19210550;17502349;17081983;16427012;16344560;16214896;16169070;15620346;15564463;15489334;15380072;15342556;15231748;15136722;15060154;14702039;14701750;14580347;12718890;12653964;12612062;12477932;12391174;11940650;11809800;11575923;11553615;11145967;11112772;10912001;10757782;10454543;10421630;10393184;10199401;9857195;9514752;9199507;9110174;8975720;8619474;10958691;21145461;17962196;19742326;19860741;19952111;18029348;20211142;16327805;23064645;22863883;22939629;22990118;21880767;21044950;19471022;20972266;21139048;21890473;21906983;22318606;22586326;20471948;22355797;22422068 6829 M0QYL9;M0R105;M0R2M5;O00267 AB000516;AB209257;ABBA01040730;AC011500;AF040253;AF052165;AK091476;AK295137;AK296117;AK302954;AK303480;AMYH01009794;BC024203;BP199253;CH471126;DB064517;DB097498;NM_001111020;NM_001130824;NM_001130825;NM_003169;U56402;Y12790 AAC51102;AAD02179;AAH24203;ABM87794;BAA24075;BAD92494;BAG58160;BAG58866;BAG64109;BAG64516;CAA73326;EAW56896;EAW56897;EAW56898;EAW56899;EAW56900;NP_001104490;NP_001124296;NP_001124297;NP_003160;O00267 Hs.631604 1646440;1676246;1729622;1745963;2108543 D19S190;RH124224;RH47758;RH80839;SUPT5H_8660 FLJ34157;SPT5;SPT5H;Tat-CT1 DRB sensitivity-inducing factor 160 kDa subunit;DRB sensitivity-inducing factor large subunit;DSIF large subunit;DSIF p160;Tat-cotransactivator 1 protein;hSPT5;transcription elongation factor SPT5 protein-coding ENSG00000196235 11469 03655 602102 VALIDATED 2290509 SUSD2P1 sushi domain containing 2 pseudogene 1 22 22 q11.21 20054262 20059869 + 21724350 21726238 + 729568 AP000552;NG_008830 pseudo 33889 INFERRED 2301771 SUSD2P2 sushi domain containing 2 pseudogene 2 22 22 q11.21 18852393 18855571 - 20473206 20475094 - 729450 ABBA01009187;AC023490;AMYH01012505;AMYH01012506;NG_008328 pseudo 35197 INFERRED 732036 SURF1 surfeit 1 This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008] 9 9 q34.2 135208487 135213182 - 136218666 136223361 - 1599193;1580863;6480464;7240710 9843204 19295170;18583168;17908801;16806233;16083427;15764605;15489334;15214016;14607829;14557577;12812953;12538779;12515039;12477932;11955926;11579424;11317352;10746561;10647889;10556303;9740673;8499913;7702754;22465034;20436434;19913121;20601676;20628086;19625251;19780766;20201926;20843780;20624914;20877624;22939629;20301352;20301382;20301403;21988832;22410471;10556302;22488715;22729384 6834 E5KRX5;Q15526 ABBA01032461;AC002107;AI479876;AK291122;AL158826;AL593848;AMYH01021800;BC028314;BC071658;BE645550;BE905282;BM542342;CH471090;HQ205786;HQ205787;HQ205788;HQ205789;HQ205790;HQ205791;HQ205792;HQ205793;HQ205794;HQ205795;HQ205796;HQ205797;HQ205798;HQ205799;HQ205800;HQ205801;HQ205802;HQ205803;HQ205804;HQ205805;HQ205806;HQ205807;HQ205808;HQ205809;HQ205810;HQ205811;HQ205812;HQ205813;HQ205814;HQ205815;HQ205816;HQ205817;HQ205818;HQ205819;HQ205820;HQ205821;HQ205822;HQ205823;HQ205824;HQ205825;NG_008477;NM_001280787;NM_003172;Y17212;Z35093 AAH28314;AAH71658;ABM81749;ABM84903;ADP91654;ADP91655;ADP91656;ADP91657;ADP91658;ADP91659;ADP91660;ADP91661;ADP91662;ADP91663;ADP91664;ADP91665;ADP91666;ADP91667;ADP91668;ADP91669;ADP91670;ADP91671;ADP91672;ADP91673;ADP91674;ADP91675;ADP91676;ADP91677;ADP91678;ADP91679;ADP91680;ADP91681;ADP91682;ADP91683;ADP91684;ADP91685;ADP91686;ADP91687;ADP91688;ADP91689;ADP91690;ADP91691;ADP91692;ADP91693;BAF83811;CAA76689;CAA84476;CAI12836;CAI12837;EAW88067;NP_001267716;NP_003163;Q15526 Hs.512464 5096644 RH11616 OTTHUMP00000022473;OTTHUMP00000022474;surfeit locus protein 1 APPROVED protein-coding ENSG00000148290 11474 01711 185620;256000 REVIEWED 1315881 SUSD1 sushi domain containing 1 9 9 9 q31.3-q33.1 85302059 85436554 - 113842882 113977377 - 114803061 114937556 - 737633;6480464 12477932 17362836;16263699;15489334;15231748;15164053;14702039;12975309;20583170;21890473;21906983;23251661 64420 F8WAQ1;H0Y6B2;H0YCH6;H3BLV4;Q9H6V2 ABBA01042714;ABBA01042715;ABBA01042716;ABBA01042717;AK025486;AK056704;AK292868;AL137432;AL138756;AL158824;AMYH01021644;AY358746;BC021125;BC052314;BC060770;BX362255;CH471105;NM_022486 AAH21125;AAH52314;AAH60770;AAQ89106;BAB15149;BAB71259;BAF85557;CAB70735;EAW59093;EAW59094;EAW59095;EAW59096;EAW59097;EAW59098;NP_071931;Q6UWL2 Hs.494827 1671671;1720239;1771092;1856895;2155339 D9S1957;HUM0C12C11;RH123868;RH18316;RH47130 RP11-4O1.1 OTTHUMP00000021926;OTTHUMP00000021927;OTTHUMP00000229550;sushi domain-containing protein 1 protein-coding ENSG00000106868 25413 15452 VALIDATED 1318458 SUSD2 sushi domain containing 2 22 22 22 q11-q12 8377843 8385473 + 22907444 22915074 + 24577444 24585074 + 737633;6480464 12477932 17353931;18029348;16335952;15489334;14702039;10591208;20467438;23624525 56241 Q9UGT4 ABBA01055130;AK026431;AK126105;AMYH01012663;AP000353;BC033107;BI822588;CH471095;NM_019601;Z92546 AAH33107;BAB15481;CAB62953;EAW59641;EAW59642;NP_062547;Q9UGT4 Hs.131819 BK65A6.2;FLJ22778 OTTHUMP00000198498;Sushi domain (SCR repeat) containing;sushi domain-containing protein 2 protein-coding ENSG00000099994 30667 18132 VALIDATED 1607061 SUSD5 sushi domain containing 5 3 3 3 p22.3 33134857 33204091 - 33166541 33235711 - 33191537 33260707 - 6480464 16641997;9628581 26032 H7C2K7;O60279 AB011099;ABBA01024908;ABBA01024909;AC123900;AK295869;AMYH01013067;NM_015551 BAA25453;BAG58668;NP_056366;O60279 Hs.196647 1770798;2156917 D3S1745;D3S4525 KIAA0527 OTTHUMP00000208758;OTTHUMP00000208759;sushi domain-containing protein 5 protein-coding ENSG00000173705 29061 VALIDATED 1322117 SUSD3 sushi domain containing 3 9 9 9 q22.31 66262735 66289161 + 94860810 94887236 + 95820989 95847415 + 737633;6480464 12477932 12975309;15489334;15164053;21832049 203328 Q96L08 ABBA01018601;ABBA01018602;AK128289;AL451065;AMYH01021511;AMYH01021512;AY358190;BC014601;BC041834;CH471089;NM_145006 AAH14601;AAH41834;AAQ88557;ABM84950;ABW03639;EAW62848;EAW62849;NP_659443;Q96L08 Hs.88417 1699756;2129262 RH103484;RH45386 MGC26847 OTTHUMP00000021669;sushi domain-containing protein 3 protein-coding ENSG00000157303 28391 15453 PROVISIONAL 1345081 SURF2 surfeit 2 This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106773900 106778519 + 135213249 135217855 + 136223421 136228040 + 6480464 17081983;16341674;15489334;15342556;12477932;9740673;8499913;7702754;19913121;20628086;16169070;18482256;19615732;21832049;22863883;21900206;22703881 6835 Q15527 ABBA01032461;AC004530;AI808831;AL158826;AL593848;AMYH01021800;BC014411;BI118187;BM789997;BP244646;BQ672017;CH471090;CR456753;NG_008477;NM_001278928;NM_017503;Y17214;Z35094 AAH14411;ABM83521;ABM86745;CAA84477;CAG33034;CAI12838;EAW88068;EAW88069;EAW88070;NP_001265857;NP_059973;Q15527 Hs.159448 1671730;1770222;2169888;5015543;5126489 A002D41;D9S1963;RH36030;RH77852;RH78413 SURF-2 OTTHUMP00000022475;surfeit locus protein 2 APPROVED protein-coding ENSG00000148291 11475 15948 185630 REVIEWED 1346503 SUV420H2 suppressor of variegation 4-20 homolog 2 (Drosophila) SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009] 19 19 19 q13.42 52892173 52900453 + 60543076 60551301 + 55851221 55859489 + 737633;6480464;6907045 12477932 17672918;16322686;15498874;15489334;15145825;15750587;18296440;19448619;19486527;21321083;21206904;21890473 84787 F5GYW4;Q86Y97 ABBA01068105;AC020922;AF289582;AK304562;AK308586;AMYH01009992;AW248704;BC005842;BC019313;BC044889;CH471135;NM_032701 AAH05842;AAH19313;AAH44889;AAL55766;BAH14216;EAW72364;EAW72365;EAW72366;NP_116090;Q86Y97 Hs.590982 1336031;2106925;5014051;5021872 20922op;D19S877;D8S2278;sY3084 FLJ51466;FLJ98627;KMT5C;MGC2705 OTTHUMP00000197477;histone-lysine N-methyltransferase SUV420H2;lysine N-methyltransferase 5C;su(var)4-20 homolog 2;suv4-20h2 APPROVED protein-coding ENSG00000133247 28405 15454 613198 VALIDATED 1316549 SURF6 surfeit 6 This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106748057 106753551 - 135187373 135192868 - 136197552 136203047 - 1580863;6480464 10675619;15635413;15489334;14702039;12477932;11891058;11790298;9740673;9548374;8889548;8639267;8499913;15629442;21890473;22586326;22316485;22113938;23267103 6838 O75683 ABBA01032461;AC002107;AF186772;AI085033;AJ224639;AK054884;AL158826;AL772161;AMYH01021800;BC003001;BC006197;BC014878;BI820270;BM451240;BM676548;CB158198;CD104374;CH471090;CN260811;NM_001278942;NM_006753;NR_103874 AAD56587;AAH03001;AAH06197;AAH14878;ACE86626;ACE87307;BAG51440;CAA12054;CAI12825;EAW88055;NP_001265871;NP_006744;O75683 Hs.274430 1664371;2150888 RH48554;WI-11910 FLJ30322;RRP14 OTTHUMP00000022488;surfeit locus protein 6 APPROVED protein-coding ENSG00000148296 11478 01714 185642 REVIEWED 1322534 SURF4 surfeit 4 This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 9 9 9 q34.2 106778819 106793454 - 135218161 135232791 - 136228340 136242970 - 1580863;6480464 17353931;15308636;18287528;16381901;15489336;15489334;12477932;11230166;11076863;10931946;9740673;8499913;7540914;19913121;20628086;20379614;22939629;21103663;21903422;21139048;21890473;21906983;21987572;22703881;21963094;22678362;23000965;23246001;22190034;16344560 6836 B7Z6A4;O15260;Q5T8U5;Q5T8U7 ABBA01032461;AC004530;AF078866;AF078867;AK026646;AK293434;AK295435;AK299656;AK300004;AK301737;AK303309;AK310333;AK315488;AK316480;AL158826;AL593848;AMYH01021800;BC018741;BC111023;BM148022;BM557312;BQ001856;BX647961;CH471090;DA842525;DC424374;NM_001280788;NM_001280789;NM_001280790;NM_001280791;NM_001280792;NM_001280793;NM_033161;Y14820;Y17214 AAD44498;AAD44499;AAH18741;AAI11024;ABM82950;ABM86142;BAG37872;BAH11504;BAH12067;BAH13091;BAH13190;BAH13544;BAH13939;BAH14851;CAA75099;CAA76692;CAI12839;CAI12840;CAI12841;CAL37785;EAW88071;EAW88072;EAW88073;EAW88074;NP_001267717;NP_001267718;NP_001267719;NP_001267720;NP_001267721;NP_001267722;NP_149351;O15260 Hs.512465 1663928;1671730;1770222;1855768;2116999;2155536;2169888 A002D41;D9S1016E;D9S1963;RH36030;RH78112;WI-12321;WI-13663 ERV29;FLJ22993;MGC102753 OTTHUMP00000022476;OTTHUMP00000022477;OTTHUMP00000022478;surface 4 integral membrane protein;surfeit locus protein 4 APPROVED protein-coding ENSG00000148248 11476 01715 185660 REVIEWED 6482606 SUZ12P2 suppressor of zeste 12 homolog pseudogene 2 14 24237409 24238231 + 100421539 ABBA01061325;AL160237;AMYH01005605;NG_027340 pseudo 43872 INFERRED 1605987 SUSD4 sushi domain containing 4 1 1 1 q41 196613537 196756905 - 221460784 221604167 - 223394161 223537544 - 6480464 16344560;14702039;12975309;12477932;20237496;20348246;23482636 55061 B3KTY0;B7Z469;Q5VX71;Q5VX72 ABBA01006369;ABBA01006370;ABBA01006371;AK000914;AK096265;AK295553;AK296923;AL359733;AL359979;AMYH01001749;AMYH01001750;AMYH01001751;AY358495;BC004888;BF446433;CH471100;DA125047;EF560748;NM_001037175;NM_017982 AAH04888;AAQ88859;ABQ59058;BAA91421;BAG53242;BAH12105;BAH12455;EAW93257;EAW93258;EAW93259;EAW93260;EAW93261;NP_001032252;NP_060452;Q5VX71 Hs.497841 1663739;1664109;1692766;1712551;1719625;1777480;2113672;2185131 AB066509;AL009823;AL034149;D1S3406;N28096;RH123717;SHGC-76390;SHGC-76394 FLJ10052;PRO222;RP11-239E10.4 OTTHUMP00000036037;OTTHUMP00000036038;YHGM196;sushi domain-containing protein 4 protein-coding ENSG00000143502 25470 07641 VALIDATED 1348120 SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) This gene is a member of the suppressor of variegation 3-9 homolog family and encodes a protein with a chromodomain and a C-terminal SET domain. This nuclear protein moves to the centromeres during mitosis and functions as a histone methyltransferase, methylating Lys-9 of histone H3. Overall, it plays a vital role in heterochromatin organization, chromosome segregation, and mitotic progression. [provided by RefSeq, Jul 2008] X X p11.23 48440075 48452351 + 48555131 48567407 + 1580863;6480464;6907045;7242554 22194015 16189514;10949293;10202156;11242053;12711603;18485871;19218236;18619962;17657744;17245432;17172641;17081983;16858404;16818776;16652147;16519522;16449642;16409643;16103223;15772651;15489334;15220403;15120635;15107829;14765126;12917624;12789259;12723694;12711675;12588981;12565857;12477932;12242305;12101246;11867540;11788710;11533237;11484059;11252719;10873456;10848615;10779362;10671371;8125298;7760804;20588255;12399542;14985713;17245431;19581932;19776757;17085482;18004385;12138181;15677454;18498648;18501190;20331966;20603076;16688220;17707234;18648073;18655152;21192791;21504832;20562864;21402781;22036763;21862595;22330138;22537242;22623531;22078878;22079596;21890473;21896933;21906983;21963094;21726809;21987572;22991213;23000965;22562246;23509280;23285239;23455924;22831836;22077140;22505724 6839 B4DP90;B4DST0;O43463 A58331;ABBA01046046;ABBA01046047;ABBA01046048;AC231533;AF019968;AF075109;AF196970;AK223071;AK297566;AK298233;AK299900;AK312547;AMYH01022290;AW327567;BC006238;BG024540;CH471224;CR541746;L08238;NG_012530;NM_003173 AAA59592;AAB92224;AAH06238;ABM83534;ABM86774;BAD96791;BAG35445;BAG59958;BAG60502;BAG61742;CAA03483;CAG46546;EAW50756;EAW50757;NP_003164;O43463 Hs.522639 1702430;1793650;2107647;2112848;2151663;2179699 DXS7466E;DXS8281;DXS9868E;PMC24455P1;SUV39H1_7883;WI-18178 KMT1A;MG44;SUV39H H3-K9-HMTase 1;OTTHUMP00000024298;Su(var)3-9 homolog 1;histone H3-K9 methyltransferase 1;histone-lysine N-methyltransferase SUV39H1;histone-lysine N-methyltransferase, H3 lysine-9 specific 1;lysine N-methyltransferase 1A;position-effect variegation 3-9 homolog APPROVED protein-coding ENSG00000101945 11479 02221 300254 REVIEWED 1315884 SUV39H2 suppressor of variegation 3-9 homolog 2 (Drosophila) 10 10 10 p13 14848822 14874354 + 14960905 14986320 + 14920782 14946314 + 1359810;1580863;6480464;6907045;7242554 11094092;22194015 10949293;18231586;16774942;16189514;15489334;15164054;15107829;14765126;14702039;12477932;8125298;16169070;21402781;17474147;20084102;16344560;20562864;21060834;21896933;21900206 79723 C9IYH9;C9JMB4;G5E9A8;H0Y306;Q5JSS2;Q9H5I1 ABBA01034604;ABBA01034605;AC069544;AK027067;AK222565;AK225369;AL360083;AL834488;AMYH01002054;BC007754;BC029360;BU928392;CH471072;CR457372;DB040298;NM_001193424;NM_001193425;NM_001193426;NM_001193427;NM_024670;NR_034181 AAH07754;AAH29360;ABM87014;ABW03850;BAB15645;CAD39146;CAG33653;EAW86253;EAW86254;EAW86255;EAW86256;EAW86257;NP_001180353;NP_001180354;NP_001180355;NP_001180356;NP_078946;Q9H5I1 Hs.554883 1653668;1657090;1670557;1689442;2127093;5022200;5022578;5022588;5022651;5022925;7185308 D11S2921;D1S1423;D5S1597E;L18426;RH48597;RH92823;SHGC-64297;STS-T90528;WI-15434;ksks283 FLJ23414;KMT1B H3-K9-HMTase 2;OTTHUMP00000019180;OTTHUMP00000019181;OTTHUMP00000019182;OTTHUMP00000019185;OTTHUMP00000019186;OTTHUMP00000019187;histone H3-K9 methyltransferase 2;histone-lysine N-methyltransferase SUV39H2;lysine N-methyltransferase 1B;su(var)3-9 homolog 2 protein-coding ENSG00000152455 17287 07580 606503 VALIDATED 1348608 SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q13.2 65257585 65291695 - 67680083 67737360 - 67923507 67980784 - 6480464;6907045 17353931;19074285;16322686;15489334;14702039;12477932;11401438;10810093;8889548;8125298;17707234;18296440;15145825;21206904;21988832;23382691 51111 B5MCB3;B7WNX0;C9J6S5;C9JFG1;C9JP58;E9PKD9;F8WFA4;H7BXP2;Q9H2K3 ABBA01024012;ABBA01024013;ABBA01024014;ABBA01024015;AF151843;AF264782;AI659791;AK000046;AK025183;AK025461;AK026428;AK225203;AK299201;AK314336;AL512763;AMYH01003758;AP002992;BC002522;BC012933;BC065287;BC087834;BC098121;BC099714;BC103498;BC104483;BC108304;BG697990;BM152996;BM719058;CH471076;NM_016028;NM_017635 AAD34080;AAG36937;AAH02522;AAH12933;AAH65287;AAH87834;AAH98121;AAH99714;AAI03499;AAI04484;BAA90905;BAH12968;CAC21680;EAW74697;EAW74698;EAW74699;EAW74700;EAW74701;NP_057112;NP_060105;Q4FZB7 Hs.632120 1648053;1648055;1661216;1688042;1711354;1738211;1782420;2116960;2136009;2137007;2153377;5093000 A005U01;A009D47;D11S2264E;D11S3845;G20496;G32461;RH17770;RH94294;SHGC-154888;SHGC-31912;SHGC-89329;WI-14303 CGI-85;CGI85;KMT5B;MGC118906;MGC118909;MGC21161;MGC703 C630029K18Rik;OTTHUMP00000197480;OTTHUMP00000197482;OTTHUMP00000197484;OTTHUMP00000197487;OTTHUMP00000197488;OTTHUMP00000197489;histone-lysine N-methyltransferase SUV420H1;lysine N-methyltransferase 5B;su(var)4-20 homolog 1;suv4-20h1 APPROVED protein-coding ENSG00000110066 24283 11616 610881 REVIEWED 1604136 SUZ12P1 suppressor of zeste 12 homolog pseudogene 1 17 17 17 q11.2 25980965 26007489 + 26075203 26121346 + 29036626 29097068 + 6480464 19291764;17999360;12477932;8889548 440423 ABBA01014988;ABBA01014989;AC005562;AC127024;AMYH01008316;BC041912;BC047718;BM689948;NR_024187 Hs.628886 1675662;1685045;1726261;1768221 G42375;RH71187;RH75544;RH78003 SUZ12P APPROVED pseudo 32421 VALIDATED 7205019 SVILP1 supervillin pseudogene 1 10 p11.23 30951270 31006198 + 11181995;16344560 645954 ABBA01034338;AK302694;AL451107;AMYH01002218;CH471072;DB077580;NR_036438;XR_109026;XR_111043;XR_171850 BAG63923;EAW86000;EAW86001;EAW86002 Hs.408581 1652274;1689043;1697438;1751737;1773900;1847344;2154507;2187180 D10S1473;RH102220;RH68411;RH69678;RH93948;SGC38028;SHGC-105709;STS-R38291 pseudo 44959 VALIDATED 1344509 SUZ12 SUZ12 polycomb repressive complex 2 subunit This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009] 17 17 q11.2 27288185 27352162 + 30264044 30328057 + 1580863;6480464 15385962;19542872;18784248;18772439;18753137;18628979;18077430;17970752;17667554;17632510;17542650;17406994;17197920;17081983;16712789;16630818;16224021;15489334;15302935;15257518;15225548;15043312;12843325;12477932;12435631;12351676;11564866;11546753;11371647;8590280;14536086;20616235;20832727;15684044;18285464;18385154;19578722;20671031;20800574;19026780;19026781;16431907;19454010;20211142;20558579;15882624;17560333;18453536;18519590;18662993;18931660;19749796;19847889;20123894;21884980;18483221;20562864;22990118;21378168;21480320;22939629;20857416;21123648;21135039;22237151;19471022;21139048;21513699;21536749;21693764;21890473;21906983;22169276;22215809;22308284;22009739;22315224;22330138;22668559;19322201;21190999;22964433;22094255;22439931;23588203;21029866 23512 A8K1U9;J3QQW9;Q15022 ABBA01014941;ABBA01014942;AC090616;AC129917;AK074333;AK290014;AMYH01008326;AMYH01008327;BC015704;BC018583;CH471147;D63881;DB501687;ES313164;NG_009237;NM_015355 AAH15704;BAA09931;BAF82703;EAW80258;NP_056170;Q15022 Hs.462732 1675662;1686883;1726261;1768221;2137626;2183624 A007E42;G42375;RH25378;RH75544;RH78003;WI-11887 CHET9;JJAZ1;KIAA0160 OTTHUMP00000163707;chET 9 protein;chromatin precipitated E2F target 9 protein;joined to JAZF1 protein;polycomb protein SUZ12;suppressor of zeste 12 homolog;suppressor of zeste 12 protein homolog APPROVED protein-coding ENSG00000178691 17101 06949 606245 REVIEWED 2306136 SVIP small VCP/p97-interacting protein 11 11 11 p14.2 22977457 22985238 - 22800174 22807958 - 22843598 22851382 - 6480464;6907045 19615732;18793143;17872946;14702039;12529442;21546767;21909394;21914798 258010 Q8NHG7 ABBA01061014;AC006299;AF527534;AK095023;AL833119;AMYH01003438;CH471064;NM_148893 AAM88869;EAW68312;EAW68313;EAW68315;NP_683691;Q8NHG7 Hs.349096 1648238;1665249;1677082;1730207;1748491;1848954;2117236;2131923;5092922;7186068 A006S18;A009C18;D11S947E;G32414;RH70384;SHGC-33590;SHGC-538;SHGC-64301;WI-13884 DKFZp313A2432 OTTHUMP00000231854;small VCP/p97-interacting protein protein-coding 25238 PROVISIONAL 1604842 SV2A synaptic vesicle glycoprotein 2A 1 1 q21.2 148141859 148156054 - 149874870 149889434 - 6480464;6907045 18029348;11256614;19399787;18977120;18524768;18391951;16710414;16381901;16344560;16303743;15822905;15489336;15489334;15342556;15210974;12477932;11230166;11076863;10617638;10611374;9872452;7681585;1519064;19220410;20167814;23455922;21795655;21936812;21139048;21890473;23244111;23275563;23017826 9900 Q7L0J3 AB018279;ABBA01049314;AC239868;AK075480;AK291718;AK303161;AL591493;AMYH01001373;BC000776;BC034038;BC045111;BP214143;BX537754;CH471121;CQ819355;DA334809;DC305069;NM_001278719;NM_014849 AAH00776;AAH45111;ACE86495;ACE87176;BAA34456;BAC11645;BAF84407;BAG64262;CAD97824;CAG34345;CAI12572;CAI12573;CAL38455;EAW53596;EAW53597;EAW53598;NP_001265648;NP_055664;Q7L0J3 Hs.516153 1336770;1767843;2167123 A002I04;D1S2222;RH12850 KIAA0736;SV2 OTTHUMP00000014065;OTTHUMP00000014066;synaptic vesicle glycoprotein 2A protein-coding ENSG00000159164 20566 08922 185860 VALIDATED 1343420 SV2B synaptic vesicle glycoprotein 2B 15 15 15 q26.1 68053643 68255113 + 89570107 89639654 + 91643182 91844539 + 634183;6480464;6907045 7681585 16751776;19043545;18977120;18524768;18367154;15489334;15466855;12477932;10624962;9872452;9110174;8619474;19913121;20628086;14702039;20379614 9899 Q7L1I2 AB018278;ABBA01053077;ABBA01053078;AC123784;AC127520;AF052188;AK124722;AK294902;AL109781;AL110287;AMYH01006925;BC030011;BG717862;CH471101;CQ819357;CR457086;DC333069;DQ595053;DQ597308;FJ515843;NM_001167580;NM_014848 AAH30011;ABM82540;ABW03391;ACS13737;BAA34455;BAG57991;CAG33367;CAG34346;EAX02143;NP_001161052;NP_055663;Q7L1I2 Hs.21754 1336795;1338655;1645366;1650659;1655489;1661169;1661171;1682658;1740549;1740617;1778828;1848914;1851931;2109915;2111452;2113170;2134954;2145138;2160575;2163136 A001V40;A004Q15;D15S1120;D15S1139;D15S1155;D15S1495;D15S158;D15S840;D15S963;G19697;RH15750;RH15767;SHGC-2192;STS-AA012827;STS-AA019712;STS-R44021;STS-Z41392;SV2B_9014;WI-15807;WI-21838 FLJ30413;FLJ42732;HsT19680;KIAA0735 OTTHUMP00000194749;OTTHUMP00000246710;OTTHUMP00000246711;synaptic vesicle glycoprotein 2B;synaptic vesicle protein 2B homolog protein-coding ENSG00000185518 16874 11765 185861 VALIDATED 1350967 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 9 9 9 q32 83629159 83843852 - 112167349 112381981 - 113127528 113342160 - 6480464 16206243;14702039;12477932;11062057;10737800;22654117;20834067;20236627;15231748;18029348;18711365;20361209;20379614;21556780;22424883;23386860 79987 B3KQM1;E9PBN8;Q5JB40;Q8NBT9 ABBA01042747;ABBA01042748;AJ619977;AK075200;AK075234;AK122605;AL158158;AL354982;AL592463;AL832416;AMYH01021630;AMYH01021631;AMYH01021632;AY243503;AY916667;BC030816;BC039727;BC047729;BF368046;BU077276;BX106110;CX165144;DR008048;DV080389;NM_153366 AAH30816;AAQ89957;AAX12481;BAG52083;BAG52091;BAG53619;CAF04067;NP_699197;Q4LDE5 Hs.522334;Hs.726867 1337905;1660373;1673759;1682984;1688512;1733210;1754351;1778746;1786932;1794282;1853399;2147132;2160724 D9S1828;D9S2010;D9S747;G10589;PMC310921P1;RH12799;RH47642;RH70073;RH91731;SHGC-132375;SHGC-142066;SHGC-24282;STS-R82656 C9orf13;CCP22;FLJ16013;FLJ90719;POLYDOM;SEL-OB;SELOB CCP module-containing protein 22;OTTHUMP00000021897;chromosome 9 open reading frame 13;selectin-like osteoblast-derived protein;selectin-like protein;serologically defined breast cancer antigen NY-BR-38;sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 protein-coding ENSG00000165124 15985 611691 VALIDATED 1352606 SVS1 seminal vesicle secretion 1 6841 11482 1343293 SVS2 seminal vesicle secretion 2 634192 2351680 6842 J05443 11483 1346414 SVS8 seminal vesicle secretion 8 12354160 337958 AF055981 18702 1346779 SV2C synaptic vesicle glycoprotein 2C 5 5 5 q13.3 71320469 71515084 + 75415061 75657172 + 75379305 75621416 + 634114;6480464;6907045 9801366 18977120;15489334;14702039;12477932;10470851;15466855;20379614 22987 B3KT41;Q496J9 AB028977;ABBA01061951;ABBA01061952;ABBA01061953;ABBA01061954;ABBA01061955;AC026774;AC108091;AC113404;AK094917;AMYH01015413;AMYH01015414;AMYH01015415;BC100824;BC100825;BC100826;BC100827;CH471084;CQ819359;NM_014979 AAI00825;AAI00826;AAI00827;AAI00828;BAA83006;BAG52953;CAG34347;EAW95771;EAW95772;NP_055794;Q496J9 Hs.663229 1653476;1704918;1712827;1736292;1746625;1758677;1766403;1772490;1785592;1787778;2120115;2167792;5016464;5491812 AFM310vg1;AFMa119xe1;D12S1240E;G64485;GDB:384854;RH120130;SHGC-12704;SHGC-13322;SHGC-149138;SHGC-149746;SHGC-155222;SHGC-173150;SHGC-79936;SV2C MGC118874;MGC118875;MGC118876;MGC118877 OTTHUMP00000221933;OTTHUMP00000221934;synaptic vesicle glycoprotein 2C;synaptic vesicle protein 2C protein-coding 30670 18753 610291 PROVISIONAL 1350090 SWI5 SWI5 recombination repair homolog (yeast) 9 9 9 q34.11 101689329 101702173 + 130078246 130091089 + 131038425 131051268 + 737633;6480464 12477932 21252223;20976249 375757 H3BLW9;H7C3F2;H7C5E9;Q1ZZU3 ABBA01043872;ABBA01043873;AK311408;AL590708;AMYH01021743;BC029911;DQ414820;NM_001040011 AAH29911;ABD72916;NP_001035100;Q1ZZU3 Hs.259594 2136524 CHLC.GGAA8B04 C9orf119;bA395P17.9 DNA repair protein SWI5 homolog;HBV DNAPTP1-transactivated protein A;OTTHUMP00000022228;OTTHUMP00000022229;OTTHUMP00000215541;hypothetical protein LOC375757;protein SAE3 homolog APPROVED protein-coding ENSG00000175854 31412 VALIDATED 1314924 SVIL supervillin This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Two transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Jul 2008] 10 10 p11.2 29786283 30064736 - 29746277 30024730 - 1580863;6480464 12711699;9867483;19109420;19047128;19010793;18984674;18639526;17925381;17081983;16880273;15383618;15324660;15302935;14702039;12917436;12477932;12202484;11977079;11792840;11707406;10362542;9382871;16169070;18029348;16385451;19683541;20331534;20379614;20309963;21070852;23382381;22939629;20360068;22550155 6840 F5GXV0;F5H2Q5;O95425;Q569J5 ABBA01034363;ABBA01034364;ABBA01034365;AF051850;AF051851;AF109135;AI028650;AK001792;AK302077;AK304720;AK304799;AK307640;AK310272;AL117410;AL158167;AL159170;AL160060;AMYH01002214;AMYH01002215;BC092440;BX457194;BX648589;CH471072;JX467682;NM_003174;NM_021738 AAC64695;AAC64696;AAD14682;AAH92440;AAI72362;AGE81989;BAG63466;BAG65483;BAG65549;CAH56147;CAH56399;EAW86018;EAW86019;EAW86020;NP_003165;NP_068506;O95425 Hs.499209 1339740;1646460;1649235;1662894;1682513;1689043;1697438;1697982;1736038;1751737;1766471;1767585;1773900;1847344;1855212;2106669;2118537;2136664;2144027;2144712;2144896;2150230;2154507;2156531;2169954;2171402;2185382;2187180 A004A11;A008M13;AFMB345WE9;D10S1276E;D10S1311E;D10S1684;D10S2195;G09305;G17403;RH102220;RH102520;RH41980;RH44745;RH68411;RH69678;RH77761;RH93747;RH93948;SGC32304;SGC38028;SGC44521;SHGC-105709;SHGC-149800;SHGC-30724;SHGC-44521;STS-R38291;SVIL__5358;WI-20487 DKFZp686A17191 OTTHUMP00000019388;OTTHUMP00000019389;archvillin;membrane-associated F-actin binding protein p205;p205/p250;supervillin APPROVED protein-coding ENSG00000197321 11480 04992 604126 REVIEWED 732263 SVOP SV2 related protein homolog (rat) 12 12 12 q24.11 108973131 109082778 - 107828787 107856860 - 109304658 109372453 - 6480464 17714910;12477932 55530 F8VNW2;H0YHK4;H0YHQ5;Q8N4V2 ABBA01053120;AC087893;AC174068;AK309780;AL359592;AMYH01004733;AMYH01004734;BC033587;BC094722;CH471054;CQ819361;NM_018711 AAH33587;AAH94722;ACT64461;CAB94878;CAG34348;EAW97839;EAW97840;EAW97841;NP_061181;Q8N4V2 Hs.4221 2189833 27-1 DKFZp761H039 OTTHUMP00000241061;SV2-related protein;synaptic vesicle 2-related protein protein-coding ENSG00000166111 25417 13224 611699 VALIDATED 1603906 SVOPL SVOP-like 7 7 7 q34 133017684 133101567 - 137929570 137999509 - 138279030 138363790 - 6480464 17714910;12477932 136306 C9JVJ9;F8WES3;Q8N434 AACC02000025;ABBA01001169;ABBA01001170;ABBA01001171;ABBA01001172;AC013429;AC020983;AMYH01017969;AMYH01017970;BC036796;BX648789;CH236950;CH471070;NM_001139456;NM_174959 AAH36796;EAW83887;EAW83888;EAW83889;EAW83890;NP_001132928;NP_777619;Q8N434 Hs.99414 1337404;2114400;7186571 D7S2450;G17152 MGC46715 OTTHUMP00000208836;OTTHUMP00000208838;OTTHUMP00000208839;SV2 related protein homolog-like;SV2-related protein-like;SVOP-like protein;putative transporter SVOPL protein-coding ENSG00000157703 27034 11235 611700 VALIDATED 2902459 SYCE1L synaptonemal complex central element protein 1-like 16 16 16 q23.1 61530886 61544503 + 75790850 75804477 + 77233349 77246976 + 6480464 16328886 100130958 A8MT33;H3BME6 ABBA01017038;ABBA01017039;AC009139;AMYH01007824;BC035731;NM_001129979 A8MT33;NP_001123451 Hs.734779 1660181;1662371;1676718;1686480 RH15625;RH65163;RH79596;SHGC-32952 MRP2 meiosis-related protein;synaptonemal complex central element protein 1-like protein-coding ENSG00000205078 37236 PROVISIONAL 1352832 SYCE1 synaptonemal complex central element protein 1 10 10 10 q26.3 128138411 128153759 + 135217395 135232866 - 135367404 135381795 - 737633 12477932 15944401;16344560;15489334;15164054;11829491;17207965 93426 Q8N0S2 ABBA01006222;AK309935;AK314978;AL161645;AMYH01003243;AY027807;AY027808;AY028079;BC034821;CH471211;DB053356;DB303602;DB336153;NM_001143763;NM_001143764;NM_130784 AAH34821;AAK14796;AAK14797;AAK21976;ADQ32490;BAG37477;EAW61359;EAW61360;NP_001137235;NP_001137236;NP_570140;Q8N0S2 Hs.553795 1789114;2138441 G65691;RH47563 C10orf94;CT76;FLJ99976;RP11-108K14.6;bA108K14.6 OTTHUMP00000020812;cancer/testis antigen 76;synaptonemal complex central element protein 1 protein-coding ENSG00000171772 28852 12598 611486 VALIDATED 1601725 SWSAP1 SWIM-type zinc finger 7 associated protein 1 19 19 19 p13.2 11380249 11382493 + 11346383 11348627 + 11485383 11487627 + 6480464 14702039;12477932;21163940;21965664 126074 Q6NVH7 ABBA01029859;AC024575;AK092438;AMYH01009483;BC068071;BC119677;CH471106;NM_175871 AAH68071;AAI19678;BAC03891;EAW84204;NP_787067;Q6NVH7 Hs.631619 5015619;5015959;5037552;5037554 D10S2448;D11S3114;D8S2279;D8S2282 C19orf39;FLJ35119;MGC149562;MGC78620;SWS1AP1;ZSWIM7AP1 ATPase SWSAP1;SWIM-type zinc finger 7-associated protein 1;SWS1-associated protein 1;ZSWIM7-associated protein 1;hypothetical protein LOC126074;uncharacterized protein C19orf39;zinc finger, SWIM-type containing 7 associated protein 1 APPROVED protein-coding ENSG00000173928 26638 08179 614536 VALIDATED 1318617 SWT1 SWT1 RNA endoribonuclease homolog (S. cerevisiae) 1 1 1 q25 158236887 158371608 + 183392815 183527536 + 185126192 185260913 + 6480464 19240061;16710414;15489334;14702039;12477932;11318611;8125298;19127978;20200978;20237496 54823 B3KXU9;Q5T5J6;Q5TC96 ABBA01027720;ABBA01027721;ABBA01027722;ABBA01027723;AF288392;AK000128;AK093263;AK127980;AK225238;AK291443;AK315802;AL136133;AL356273;AMYH01001561;BC030781;BI756018;CH471067;DB453411;DB518900;NM_001105518;NM_017673 AAG60612;AAH30781;BAA90960;BAF84132;BAG52678;BAG54611;EAW91191;NP_001098988;NP_060143;Q5T5J6 Hs.134183 1340875;1667095;2150442;7186560 D1S240;SHGC-76049;WI-11204 C1orf26;FLJ20121;FLJ35944;HsSwt1 OTTHUMP00000033402;OTTHUMP00000033403;hypothetical protein LOC54823;transcriptional protein SWT1 APPROVED protein-coding ENSG00000116668 16785 10726 VALIDATED 1604631 SWAP70 SWAP switching B-cell complex 70kDa subunit 11 11 p15 9642204 9731084 + 9685628 9774508 + 6480464 17371938;16547421;16418221;16344560;15489334;14702039;12925760;12477932;11726218;10681448;9734811;9642267;12421765;20800603;18029348;22247562;22728961;22863883;22939629;22210919;21139048;22944692 23075 E7EMB1;E9PJK8;E9PJM7;H0YDK5;Q9UH65 AB014540;ABBA01061165;ABBA01061166;ABBA01061167;AC011979;AC026250;AF134894;AF161439;AF210818;AK027131;AK096859;AK304104;AL110154;AMYH01003385;AMYH01003386;AMYH01003387;AMYH01003388;BC000134;BC000616;CH471064;DA413747;NM_015055 AAF24486;AAF28999;AAF61403;AAH00616;BAA31615;BAG53381;BAG65007;EAW68582;EAW68583;EAW68584;EAW68585;NP_055870;Q9UH65 Hs.153026 1691284;1698576;1699112;1738179;2121926;5037552 D11S3808;D8S2279;G17605;RH102840;RH103132;RH81040 FLJ39540;HSPC321;KIAA0640;SWAP-70 OTTHUMP00000231344;OTTHUMP00000231368;switch-associated protein 70 protein-coding ENSG00000133789 17070 10378 604762 VALIDATED 1347912 SYCP1L2 synaptonemal complex protein 1-like 2 6848 11488 1351298 SYCP1L3 synaptonemal complex protein 1-like 3 6849 11489 1604347 SYBU syntabulin (syntaxin-interacting) Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008] 8 8 8 q23.2 106773801 106891437 - 110655581 110773196 - 110586405 110704020 - 6480464 17611281;16750881;16344560;16157705;15656992;15459722;14702039;12477932;12107410;10819331;8889548;16169070;16713569;20379614;22975310;17043677 55638 B3KRD1;B7Z4D2;E9PI48;E9PJ11;E9PK96;E9PL50;E9PL66;E9PLB9;E9PN31;E9PNN9;E9PPC2;E9PPS4;E9PQE2;E9PQG2;E9PRH8;E9PRT7;Q8ND49 AB040905;AB195676;AB195677;AB195678;AB195679;ABBA01037714;ABBA01037715;AC079061;AK000373;AK055246;AK090559;AK091374;AK096558;AK290469;AK297182;AL713645;AL834406;AMYH01018958;AY705385;BC012082;BG702715;BU607867;CA395128;CH471060;DA155137;DA530258;DA773983;DA787454;DA803330;DB127917;DB155885;DC350594;DN993094;NM_001099743;NM_001099744;NM_001099745;NM_001099746;NM_001099747;NM_001099748;NM_001099749;NM_001099750;NM_001099751;NM_001099752;NM_001099753;NM_001099754;NM_001099755;NM_001099756;NM_017786 AAH12082;AAU93914;BAA91121;BAA95996;BAD72976;BAD72977;BAD72978;BAD72979;BAF83158;BAG52185;BAG52343;BAG53323;BAH12518;CAD28457;CAD39068;EAW91935;EAW91936;EAW91937;NP_001093213;NP_001093214;NP_001093215;NP_001093216;NP_001093217;NP_001093218;NP_001093219;NP_001093220;NP_001093221;NP_001093222;NP_001093223;NP_001093224;NP_001093225;NP_001093226;NP_060256;Q9NX95 Hs.390738 1682425;1735828;1765629;1765753;1786860;1851809;1858452;2115061;2133221;2143355;2172448;2172450 A004G12;A004W27;A006R45;BCD1229;D8S1430E;D8S1594;D8S423;RH18239;SHGC-149074;SHGC-149185;SHGC-172485;SHGC-24304 FLJ20366;GOLSYN;KIAA1472;OCSYN;SNPHL GOLSYN A protein;GOLSYN B protein;GOLSYN C protein;Golgi-localized protein;OTTHUMP00000230549;OTTHUMP00000230550;OTTHUMP00000230551;OTTHUMP00000230552;OTTHUMP00000230553;OTTHUMP00000230554;OTTHUMP00000230556;OTTHUMP00000230557;OTTHUMP00000230558;OTTHUMP00000230560;OTTHUMP00000230563;OTTHUMP00000230564;golgi-localized syntaphilin-related protein;implicated in syntaxin trafficking in neurons;microtubule-associated protein;syntabulin;syntaphilin-like;syntaxin-1-binding protein APPROVED protein-coding ENSG00000147642 26011 07902 611568 VALIDATED 1604473 SYCN syncollin 19 19 19 q13.2 36497137 36498481 - 44385305 44395713 - 39693562 39694906 - 6480464 12477932;11839820 342898 Q0VAF6 ABBA01040721;AC011443;AK130951;AMYH01009791;BC039541;BC121075;BC121076;NM_001080468 AAI21076;AAI21077;NP_001073937;Q0VAF6 Hs.124123 FLJ27441;INSSA1;SYL insulin synthesis associated 1;insulin synthesis-associated protein 1;syncollin protein-coding ENSG00000179751 18442 PROVISIONAL 1603348 SYCE2 synaptonemal complex central element protein 2 The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012] 19 19 19 p13.2 12899602 12919804 - 12870894 12891086 - 13009894 13030086 - 6480464 15944401;17339376;15489334;15057824;14702039;12477932;19913121;20628086;22870393;23222517 256126 K7EM50;Q6PIF2 ABBA01029763;AC092069;AD000092;AK097443;AK302373;AMYH01009497;BC035819;DB449708;NG_033049;NM_001105578 AAH35819;AAI72302;BAG63695;NP_001099048;Q6PIF2 Hs.655173 1767823;1770857;2120472;2133532;2181893;2183210;5016715;5020740;5020946;5022578;5023327;5024039;5024413;5118802 D11S3665;D16S325;D19S1133;D1S1423;L17809;L17877;L17971;L18023;RH17829;RH44737;RH46338;RH99313;SHGC-24430;WI-17002 CESC1 central element synaptonemal complex 1;central element synaptonemal complex protein 1;synaptonemal complex central element protein 2 protein-coding 27411 611487 REVIEWED 1353710 SYAP1 synapse associated protein 1 X X X p22.2 20856106 20899205 + 16647676 16689274 + 16737707 16780807 + 6480464 18029348;17081983;16964243;15489334;15302935;14702039;12549212;12477932;11483580;8125298;16344560;22939629;21139048;21890473;21044950;21963094;23000965;23300339;22053931 94056 Q53GS5;Q96A49 AA829759;ABBA01071453;ABBA01071454;ABBA01071455;ABBA01071456;ABBA01071457;ABBA01071458;ABBA01071459;AF168955;AF305828;AF338728;AK027401;AK126173;AK222856;AK295322;AK303783;AK314675;AL445467;AMYH01022111;BC001468;BC014657;CH471074;CR749849;DB047379;DB577454;NG_016374;NM_032796;NR_033181 AAH14657;AAK55531;AAK69273;AAK81893;ACE87132;BAB55087;BAD96576;BAG37229;BAG58299;BAG64741;CAH18697;EAW98917;NP_116185;Q96A49 Hs.744256 1675329;1699014;2153818;5015619;5022463;5037552 D11S3114;D3S1673;D8S2279;G10389;RH103079;RH65480 DKFZp686K221;FLJ14495;FLJ44185;PRO3113 OTTHUMP00000022984;SAP47 homolog;synapse associated protein 1, SAP47 homolog;synapse-associated protein 1 APPROVED protein-coding 16273 06733 VALIDATED 2303881 SYCE3 synaptonemal complex central element protein 3 22 22 22 q13.33 34865573 34877362 - 49336407 49348194 - 50989541 51001328 - 19323366;15489334;12477932;21637789 644186 A1L190 ABBA01042624;ABBA01042625;AMYH01012916;AMYH01012917;AX971765;BC127859;BC127860;CH471138;EU082028;NM_001123225;U62317 A1L190;AAI27860;AAI27861;ABU52998;CAF16873;EAW73567;NP_001116697 Hs.535660 C22orf41;THEG2 OTTHUMP00000197090;hypothetical protein LOC644186;synaptonemal complex central element protein 3;testis highly expressed gene 2 protein;testis highly expressed protein 2;uncharacterized protein C22orf41 APPROVED protein-coding ENSG00000217442 35245 PROVISIONAL 1602090 SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 1 1 1 p22.3 83867794 83911153 - 85395944 85439316 - 85623356 85666728 - 6480464 14702039;17549794 84144 Q5VT97 ABBA01045641;ABBA01045642;AL603750;AL834286;AMYH01000754;NM_032184 CAD38960;NP_115560;Q5VT97 Hs.670497 1713749;2117887;2172888;5022641 D11S2843;RH120760;SHGC-30719;WI-17569 FLJ13815;RP11-33E12.1 OTTHUMP00000063302;protein syd-1 homolog 2;rho GTPase-activating protein SYDE2;synapse defective protein 1 homolog 2 protein-coding ENSG00000097096 25841 VALIDATED 1344880 SYF2P1 SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 1 14 14 14 q12 10876786 10877224 - 30080607 30081245 - 31010956 31011394 - 317778 ABBA01061403;AL117355;AMYH01005636;NG_002474 CBPINP;SYF2P ccndbp1 interactor pseudogene APPROVED pseudo 19925 INFERRED 3516428 SYF2P2 SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 2 9 9 9 p13.3 34942634 34943168 + 35000696 35001269 + 35010732 35011266 + 100128275 ABBA01064998;AL355377;AMYH01019341;NG_021644 pseudo 38139 INFERRED 1347800 SYCP1 synaptonemal complex protein 1 1 1 1 p13-p12 113626675 113767206 + 115198978 115339514 + 115397455 115537991 + 1580863;6480464 11149944;1464329;15944401;16030183;12477932;9560255;9371398;9119375;20378615;20800603;17370265;20360068;21139048;17608150 6847 Q15431;Q5VXJ5 AA868393;ABBA01068469;ABBA01068470;ABBA01068471;AF273043;AK315268;AL358372;AL645502;AMYH01000968;BC026162;BC065190;BC105299;BC126266;BC144019;BC144020;BG772129;CH471122;D67035;NM_003176;X95654 AAG34903;AAI05300;AAI26267;AAI44020;BAA22586;CAA64956;EAW56621;EAW56622;EAW56623;EAW56624;NP_003167;Q15431 Hs.112743 1688372;1692676;1693246;1693252;1753447;1769106;2108547 AL033577;AL033578;AL034105;RH64866;SHGC-107404;SHGC-75370;SYCP1_8664 CT8;HOM-TES-14;MGC104417;SCP1 OTTHUMP00000013876;OTTHUMP00000013877;OTTHUMP00000013878;SCP-1;cancer/testis antigen 8;synaptonemal complex protein 1 protein-coding ENSG00000198765 11487 03698 602162 VALIDATED 1342491 SYM1 symphalangism 1 (proximal) 7240710 9634519 11492 184460;185800;186500;186570;611377 1351051 SYM2 symphalangism 2 (distal) 6852 11493 1604969 SYCP2L synaptonemal complex protein 2-like 6 6 6 p24.2 12115512 12202979 + 10995050 11082528 + 10887064 10974542 + 16344560;12477932;19448621;21832049;18029348;21829377;22267201 221711 B4DFB8;H7C4Q1;Q5T4T6 ABBA01022089;ABBA01022090;ABBA01022091;ABBA01022092;ABBA01022093;ABBA01022094;AI027433;AK128130;AL121955;AL357497;AM293674;AMYH01016080;BC012225;CH471087;DA620756;DB077181;NM_001040274 AAH12225;BAC87288;CAL25570;EAW55288;NP_001035364;Q5T4T6 Hs.729128 1723621;1856617;2125063;2150616;2175131 AL031213;RH122351;RH46672;SHGC-57101;WI-18267 C6orf177;NO145;dJ62D2.1 145 kDa nucleolar protein homolog;OTTHUMP00000016027;SCP-2-like;hsNO145;synaptonemal complex protein 2-like protein-coding ENSG00000153157 21537 11248 VALIDATED 69483 SYCP2 synaptonemal complex protein 2 The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008] 20 20 20 q13.33 55179316 55247887 - 57872013 57940604 - 58438618 58507209 - 69387;1580863;6480464 9592139 10341103;12477932;11780052;20378615 10388 A2A2M9;A2A340;A2A341;Q8IWA1;Q9BX26 ABBA01005957;ABBA01005958;AK308889;AL080226;AL109928;AL158092;AMYH01012028;BC040566;BC132864;BC132870;BC146798;BQ575787;BX648091;BX649108;CH471077;NM_014258;Y08982 AAH40566;AAI32865;AAI32871;AAI46799;CAA70171;CAB45780;EAW75426;EAW75427;NP_055073;Q9BX26 Hs.202676 1690692;1707060;1708946;2108951 RH92762;SHGC-79529;SHGC-81285;SYCP2_9099 SCP2 OTTHUMP00000031430;OTTHUMP00000174469;SCP-2;hsSCP2;synaptonemal complex lateral element protein;synaptonemal complex protein 2 APPROVED protein-coding ENSG00000196074 11490 06822 604105 REVIEWED 1602201 SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 19 19 19 p13.12 15113949 15121526 + 15079214 15086789 + 15218214 15225789 + 6480464 14702039;12477932;21139048;19531213 85360 M0QXZ8;M0R101;M0R3D3;Q6ZW31 ABBA01051097;AC004794;AF209931;AK023573;AK123686;AK128870;AK315453;AMYH01009543;BC018942;BC029926;CH471106;NM_033025 AAC18917;AAF22843;AAH18942;AAH29926;BAB14612;BAC85676;BAG37840;EAW84461;EAW84462;EAW84463;NP_149014;Q6ZW31 Hs.528701;Hs.706845 1654850;1665591;1767600;2109433;2147440;2159169;2175003;2175005 D19S647E;D19S825;D19S849;ILVBL_9207;RH12226;RH12349;SGC33062;WI-11575 7h3;FLJ13511 protein syd-1 homolog 1;rho GTPase-activating protein SYDE1;synapse defective protein 1 homolog 1 protein-coding ENSG00000105137 25824 07830 PROVISIONAL 733070 SYCP3 synaptonemal complex protein 3 This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010] 12 12 q 100646557 100657378 - 102122426 102133250 - 1580863;6480464;7240710 15218256;14643120;19110213;18256545;17434513;16824523;16213863;15489334;14702039;12759374;12477932;12213195;11591653;10854409;21126912;11329013;20339291;20395201;21357605;22990118;22116401;22197129;23069255;23100464 50511 Q8IZU3 ABBA01053237;AC063950;AF492003;AF517774;AI015251;AK125930;AMYH01004703;BC062662;BG201028;BG202454;BQ428625;CH471054;NG_021181;NM_001177948;NM_001177949;NM_153694 AAH62662;AAN06611;AAP47204;EAW97678;EAW97679;EAW97680;EAW97681;NP_001171419;NP_001171420;NP_710161;Q8IZU3 Hs.506504 1648636;1767107;2109917;2150270 RH44831;RH77822;SYCP3_9645;WI-14986 COR1;MGC71888;SCP3;SPGF4 OTTHUMP00000196388;OTTHUMP00000196389;OTTHUMP00000196390;synaptonemal complex protein 3 APPROVED protein-coding ENSG00000139351 18130 07265 270960;604759 REVIEWED 1603674 SYF2 SYF2 homolog, RNA splicing factor (S. cerevisiae) This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 23873323 23883569 - 25421351 25431600 - 25548767 25559013 - 6480464;6907045 11118353;16951160;16710414;15489334;12477932;11991638;11230166;11256614;21832049;20360068;21139048 25949 O95926 ABBA01059929;AF273089;AI311782;AK303582;AK314859;AL031432;AL080166;AMYH01000380;BC010862;BC015824;BF057608;BG390792;BI668848;CH471134;CV806249;DR155437;NM_015484;NM_207170 AAG42073;AAH10862;ABM81589;ABW03276;BAG37375;BAG64600;CAB45754;EAW95152;EAW95153;EAW95154;EAW95155;NP_056299;NP_997053;O95926 Hs.20013 2109615;2158816;2162531;2182026;5015619;5015861;5037552;5491236;7185938 A004T06;D10S16;D11S3114;D1S3130;D8S2279;MARC_3071-3072:991936691:3;P29_9435;SHGC-74397 CBPIN;DKFZp564O2082;NTC31;P29;fSAP29 CCNDBP1 interactor;CCNDBP1-interactor;GCIP-interacting protein p29;OTTHUMP00000040538;OTTHUMP00000040539;functional spliceosome-associated protein 29;pre-mRNA-splicing factor SYF2 APPROVED protein-coding 19824 07386 607090 REVIEWED 731422 SYN1 synapsin I This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] X X p11.23 47316244 47364200 - 47431300 47479256 - 1580863;6480464;7240710 10358015;2110562;19086053;18029348;16169070;15822905;15772651;15345747;15147519;14985377;14673601;12477932;12438562;12237306;11867766;10899172;10725920;10578110;10571231;10386995;9645429;9463375;9395448;8702879;8430330;8287627;8022809;3118371;3095840;2506642;2118519;1905928;1905878;12456676;19913121;20628086;19301426;15829507;20700059;20921223;11431533;21441247;8552632;22558309;17893145;22807112;22939629;23250796 6853 P17600 ABBA01052379;ABBA01052380;ABBA01052381;ABBA01052382;ABBA01052383;ABBA01052384;ABBA01052385;ABBA01052386;ABBA01052387;AI929645;AL009172;AL833961;AMYH01022263;AMYH01022264;BC036711;BC048799;CH471164;M55301;M58321;M58341;M58351;M58353;M58359;M58371;M58372;M58373;M58374;M58375;M58376;M58377;M58378;NG_008437;NM_006950;NM_133499 AAA60608;AAC41930;AAC41931;EAW59313;EAW59314;NP_008881;NP_598006;P17600 Hs.225936 1657346;1660337;1678731;1685431;1701858;1772497;1850481;2112856;2112882;2150920;2152062;2183532 AL023622;DXS9873E;DXS9875;GDB:192509;RH79877;RH93525;SGC30176;STS-AA001911;STS-L24038;STS-M13829;STS-M58378;WI-6972 SYN1a;SYN1b;SYNI OTTHUMP00000023229;OTTHUMP00000023230;brain protein 4.1;synapsin 1;synapsin-1 APPROVED protein-coding ENSG00000008056 11494 02433 300491;313440 REVIEWED 1346585 SYNC syncoilin, intermediate filament protein This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] 1 1 1 p35.1 31414272 31437147 - 32918548 32933460 - 33145507 33168361 - 6480464 16429158;16124004;12477932;11694502;11053421;7566098;20199207;20587592 81493 C9JSS1;C9JTN4;Q9H7C4 AA376455;ABBA01023407;ABBA01023408;AC114489;AI752560;AK024707;AK297958;AK302275;AMYH01000469;BC119700;BC119701;CH471059;DC355889;DC398945;DN991289;NG_012421;NM_001161708;NM_030786 AAI19701;AAI19702;BAB14970;BAG60270;BAG63620;EAX07511;EAX07512;NP_001155180;NP_110413;Q9H7C4 Hs.712631 1770435;2106673;2165629;2173319;2186489;5091589 D1S1793E;RH16653;RH70422;SHGC-57292;SHGC-74547;SYNCOILIN__5360 MGC149625;MGC149626;SYNC1;SYNCOILIN OTTHUMP00000009760;intermediate filament protein syncoilin;syncoilin;syncoilin intermediate filament 1;syncoilin, intermediate filament 1;syncoilin-1 APPROVED protein-coding ENSG00000162520 28897 18134 611750 REVIEWED 736267 SYN2 synapsin II This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. The TIMP4 gene is located within an intron of this gene and is transcribed in the opposite direction. Mutations in this gene may be associated with abnormal presynaptic function and schizophrenia. Alternative splicing of this gene results in two transcripts. [provided by RefSeq, Jul 2008] 3 3 p25 12020862 12208532 + 12182150 12233532 + 1580863;6480464;7240710 2506642;10820264;8964517;18372903;17913586;17766091;16131404;15449241;15271586;14702039;12477932;11867766;11571277;10578110;10571231;10565545;10358015;9463375;9430678;8530057;8430330;7592648;19913121;20628086;19665806;20034013;20379614;16712791;16751776;21906983;11032911;22581228;21465568;22384280;22139419 6854 Q86VA8;Q92777 AB209088;ABBA01025206;ABBA01025207;ABBA01025208;AC022234;AC026166;AC091492;AF077671;AF077737;AK091286;AK094464;AK295431;AK307469;AMYH01012981;AMYH01012982;AMYH01012983;BC040661;BC051307;CB155277;CH471055;NG_011728;NM_003178;NM_133625;U40215;X89851 AAC28368;AAC33789;AAC50718;AAH51307;BAD92325;BAG52325;BAG52870;BAG58374;CAA61949;EAW64117;EAW64118;EAW64119;EAW64120;EAW64121;NP_003169;NP_598328;Q92777 Hs.445503 1299906;1643698;1666847;1676336;1688696;1707330;1710958;1730493;1771661;1796948;1851454;2136622;2146122;2147935;2184347;5019931 AF096867;D3S1259;D3S732;G16552;RH66385;RH80633;RH99325;SHGC-14394;SHGC-53473;SHGC-76710;SHGC-76712;SHGC-76716;SHGC-79283;SHGC-84455;TIMP4_1491;WI-19747 SYNII;SYNIIa;SYNIIb OTTHUMP00000222077;OTTHUMP00000222078;synapsin-2 APPROVED protein-coding 11495 02857 181500;600755 REVIEWED 1315523 SYMPK symplekin This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] 19 19 q13.3 51010540 51058388 - 46318700 46366548 - 1580863;6480464;6907045 8769423;19328795;17880531;17158914;16344560;16230528;15550246;15489334;15302935;14707147;14533737;12477932;11181995;10669729;10413599;9700202;9585442;9330635;20823274;20861839;18688255;20133805;15561718;20601676;16055720;18029348;19471022;21139048;21549307;21693764;21890473;21906983;22218735;22586326;12549820 8189 M0QXP5;M0R033;M0R039;M0R180;M0R1C2;M0R3C7;Q92797 AB209024;AB210010;ABBA01040953;ABBA01040954;AC008623;AC092301;AF049526;AK130602;AK300252;AMYH01009855;BC006536;BC006567;BC030214;BU752018;BX649165;CH471126;DB044963;DB461873;NM_004819;U49240;U88726;Y10931 AAB58578;AAC27504;AAC50667;AAH06536;AAH06567;AAH30214;ABM84373;ABW03562;BAD92261;BAE06092;BAH13243;CAA71861;EAW57389;EAW57390;EAW57391;EAW57392;EAW57393;NP_004810;Q92797 Hs.515475 2122377;2132035;5014019;5020740;5024413;5037552;5109281 D1S1425;D5S2354;D8S2279;G29025;L17809;L17877;RH11655 FLJ27092;SPK;SYM OTTHUMP00000196465;symplekin APPROVED protein-coding ENSG00000125755 22935 09090 602388 REVIEWED 6484201 SYNE1-AS1 SYNE1 antisense RNA 1 6 152701665 152702848 + 100505475 ABBA01025621;AL049548;AMYH01016746;BI962584;BX107936;CK821189;XR_110190;XR_112928;XR_171606 Hs.571203 1719801 RH123593 APPROVED miscrna 40793 MODEL 736160 SYK spleen tyrosine kinase This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 9 9 q22 92603891 92698305 + 93564012 93660842 + 1580863;6480464;6484113;6907045;6218988 21894146 12885943;8627166;9280292;10963601;7477352;8163536;8176201;18029348;19464057;19435818;19296913;19248119;19195024;19151749;19150851;19122653;19092849;19018007;18945214;18818202;18715989;18715866;18564921;18485118;18420802;18401419;18362147;18206515;18189269;18178826;18052078;18022864;18006696;17874182;17721605;17693136;17681949;17675521;17507237;17506820;17346310;17228323;17145863;17130299;17110603;17082600;17070777;16964403;16921024;16888096;16849645;16754322;16501050;16474166;16449524;16371508;16344560;16289966;16085052;15956283;15955106;15795233;15754322;15744341;15707999;15701717;15670211;15583006;15557085;15536084;15507431;15489334;15467722;15388330;15345594;15337524;15188513;15166239;15163542;15144186;15143214;15062056;15059847;15059510;14702039;14699155;14646171;12907655;12881490;12771181;12711606;12709437;12522270;12477932;12477728;12470302;12453414;12447358;12445683;12393431;12387735;12359715;12209081;12096713;12095152;12009018;11988077;11964172;11895767;11782428;11744621;11676469;11672534;11598012;11536198;11514608;11441091;11418661;11390470;11356834;11313252;11226282;11163197;11162638;11141335;11133830;11046148;10981967;10942405;10933389;10872802;10862713;10825200;10790433;10748099;10747947;10689303;10540342;10482988;10469124;10449770;10209036;10072516;10066823;10023776;10022120;9891970;9891087;9857068;9852052;9846481;9820500;9710204;9698567;9695951;9590268;9535867;9490415;9388490;21171946;12682251;9295288;9342235;9218456;9169439;9120258;9104825;9096689;8986718;8885868;8798764;8756631;8666899;8657103;8636079;8630736;8629002;8621719;8617742;8590001;8197119;8168854;8082894;8071371;7895172;7831290;7761456;7682059;7600304;7592872;7539035;7538118;7513161;7513017;7500027;3198621;2065070;1998697;1689310;1569106;21953500;22702505;21749309;21822214;22262777;22577255;22659134;1423621;9268059;12051764;11368773;10940905;11331248;8900182;16640565;10961871;9590210;12435267;21255137;21325831;21468383;21394647;16118313;16291755;16713566;18803050;19297020;19421152;19436043;19477690;19530990;19535334;19549911;19553680;19581935;19776763;19783684;19800574;19829710;19889729;19893036;19909739;19965664;20013945;20068106;20133729;20154219;20236696;20379614;20439541;11742985;20201079;15577829;20014315;20528870;16938345;20401456;20668539;21086786;20956537;20585042;21876553;22541243;16288017;20705591;20368800;21552259;21047529;21067271;21832049;21981270;22489915;22880054;23071339;21378271;19236749;20563729;21469132;21807898;21908615;22000807;21730355;21642504;3350007;3472906;23204309;23424645;9389695;22287277;22219190;21693067;19419964;11940607;21926965;22321643;22354960;19953087;21890473;22235999;16322234;22025527;22019427;22031919;21833088;22219177;22456796;10570266;10605028;11042121;21044950;22267732;22384232;22585575;22706086;9103201;9830044;22693567;22689578;10427990;10617633;11262396;15556646;21482705;7721825;23264619;23281368;23293025;23396946;23447535;22864779;16273093;19738201;22505724;22623428;22848421;23223229;23480133;18005690;18070606;20439986;22837212;22844345;22956578;9880513;22336204;22707146;23299888 6850 A8K4G2;P43405 ABBA01012841;ABBA01012842;ABBA01012843;AJ420449;AK057772;AK075020;AK094808;AK290927;AL354862;AL832053;AMYH01021503;BC001645;BC002962;BC011399;BG754228;BX647192;CH471089;DA587403;DA948098;DB458719;FN391891;FN391892;FN391893;L28824;NG_017046;NM_001135052;NM_001174167;NM_001174168;NM_003177;S80267;W33104;X73568;Z29630 AAA36526;AAB35601;AAH01645;AAH02962;AAH11399;BAF83616;BAG52053;CAA51970;CAA82737;CAY55929;CAY55930;CAY55931;EAW62782;EAW62783;EAW62784;EAW62785;EAW62786;NP_001128524;NP_001167638;NP_001167639;NP_003168;P43405 Hs.371720 1647138;1676602;1714939;1763053;1779792;1798236;1855043;2122960;2144769;2164483;2186629;5022450;5037552;5491997 D10S275;D8S2279;D9S2062;RH120464;RH48672;RH68079;RH69035;RH91425;SHGC-146795;SHGC-153763;STS-S80267;SYK-1;SYK_1884;WI-18899 DKFZp313N1010;FLJ25043;FLJ37489;p72-Syk OTTHUMP00000021627;OTTHUMP00000021628;OTTHUMP00000021629;OTTHUMP00000021630;tyrosine-protein kinase SYK APPROVED protein-coding ENSG00000165025 11491 02514 600085 REVIEWED 736491 SYN3 synapsin III This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008] 22 22 q12.3 31238540 31732683 - 32908539 33454377 - 1580863;6480464 20471030;9539796;19102774;18755822;17567994;17413450;17366345;16511335;15900227;15489334;15461802;21665990;14732590;12477932;11867766;11840510;10591208;10582583;10578110;10358015;19913121;20677014;18583979;19766700;20379614;20385819;20385826;22360420;21998595;20881960;23455636 8224 A6ZJ82;O14994;Q17R54;Q4TT46;Q59EX7 AB209684;ABBA01055379;ABBA01055380;ABBA01055381;ABBA01055382;ABBA01055383;ABBA01055384;ABBA01055385;AF046873;AI095028;AK300171;AL021452;AL023282;AL031592;AMYH01012728;AMYH01012729;AMYH01012730;AMYH01012731;BC075065;BC075066;BC117460;BC143874;CH471095;CR456589;DB458758;DQ655947;NG_029545;NM_001135774;NM_003490;NM_133633;Z69714;Z71183;Z72520;Z72521;Z73495;Z73979;Z75744;Z80902;Z81309;Z82181;Z82246;Z83846;Z98256 AAC15101;AAH75065;AAH75066;AAI17461;AAI43875;ADR83222;BAD92921;BAG61952;CAG30475;CAK54620;CAK54919;EAW60029;EAW60030;EAW60031;EAW60032;EAW60033;EAW60034;EAW60035;EAW60036;EAW60037;NP_001129246;NP_003481;NP_598344;O14994 Hs.608750 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EN79932;REN79933;REN79934;REN79935;REN79936;REN79937;REN79938;REN79939;REN79940;REN79941;REN79942;REN79943;REN79944;REN79945;REN79946;REN79947;REN79948;REN79949;REN79950;REN79951;REN79952;REN79953;REN79954;REN79955;REN79956;REN79957;REN79958;REN79959;REN79960;REN79961;REN79962;REN79963;REN79964;REN79965;REN79966;REN79967;REN79968;REN79969;REN79970;REN79971;REN79972;REN79973;REN79974;REN79975;REN79976;REN79977;REN79978;REN79979;REN79980;REN79981;REN79982;REN79983;REN79984;REN79985;REN79986;REN79987;REN79988;REN79989;REN79990;REN79991;REN79992;REN79993;REN79994;REN79995;REN79996;REN79997;REN79998;REN79999;REN80000;REN80001;REN80002;REN80003;REN80004;REN80005;REN80006;REN80007;REN80008;REN80010;REN80011;REN80012;REN80013;REN80014;REN80015;REN80016;REN80017;REN80018;REN80019;REN80020;REN80021;REN80022;REN80023;REN80024;REN80025;REN80026;REN80027;REN80028;REN80029;REN80030;REN80031;REN80032;REN80033;REN80034;REN80035;REN80036;REN80037;REN80038;REN80039;REN80040;REN80041;REN80042;REN80043;REN80044;REN80045;REN80046;REN80047;REN80048;REN80049;REN80050;REN80051;REN80052;REN80053;REN80054;REN80055;REN80056;REN80057;REN80058;REN80059;REN80060;REN80061;REN80062;REN80063;REN80064;REN80065;REN80066;REN80067;REN80068;REN80069;REN80070;REN80071;REN80072;REN80073;REN80074;REN80075;REN80076;REN80077;REN80078;REN80079;REN80080;REN80081;REN80082;REN80083;REN80084;REN80085;REN80086;REN80087;REN80088;REN80089;REN80090;REN80091;REN80092;REN80093;REN80094;REN80095;REN80096;REN80097;REN80098;REN80099;REN80100;REN80101;REN80102;REN80103;REN80104;REN80105;REN80106;REN80107;REN80108;REN80109;REN80110;REN80111;REN80112;REN80113;REN80114;REN80115;REN80116;REN80117;REN80118;REN80119;REN80120;REN80121;REN80122;REN80123;REN80124;REN80125;REN80126;REN80127;REN80128;REN80129;REN80130;REN80131;REN80132;REN80133;REN80134;REN80135;REN80136;REN80137;REN80138;REN80139;REN80140;REN80141;REN80142;REN80143;REN80144;REN80145;REN80146;REN80147;REN80148;REN80149;REN80150;REN80151;REN80152;REN80153;REN80154;REN80155;REN80156;REN80157;REN80158;REN80159;REN80160;REN80161;REN80162;REN80163;REN80164;REN80165;REN80166;REN80167;REN80168;REN80169;REN80170;REN80171;REN80172;REN80173;REN80174;REN80175;REN80176;REN80177;REN80178;REN80179;REN80180;REN80181;REN80182;REN80183;REN80184;REN80185;REN80186;REN80187;REN80188;REN80189;REN80190;REN80191;REN80192;REN80193;REN80194;REN80195;REN80196;REN80197;REN80198;REN80199;REN80200;REN80201;REN80202;REN80203;REN80204;REN80205;REN80206;REN80207;REN80208;REN80209;REN80210;REN80211;REN80212;REN80213;REN80214;REN80215;REN80216;REN80217;REN80218;REN80219;REN80220;REN80221;REN80222;REN80223;REN80224;REN80225;REN80226;REN80227;REN80228;REN80229;REN80230;REN80231;REN80232;REN80233;REN80234;REN80235;REN80236;REN80237;REN80238;REN80239;REN80240;REN80241;REN80242;REN80243;REN80244;REN80245;REN80246;REN80247;REN80248;REN80249;REN80250;REN80251;REN80252;REN80253;REN80254;REN80255;REN80256;REN80257;REN80258;REN80259;REN80260;REN80261;REN80262;REN80263;REN80264;REN80265;REN80266;REN80267;REN80268;REN80269;REN80270;REN80271;REN80272;REN80273;REN80274;REN80275;REN80276;REN80277;REN80278;REN80279;REN80280;REN80281;REN80282;REN80283;REN80284;REN80285;REN80286;REN80287;REN80288;REN80289;REN80290;REN80291;REN80292;REN80293;REN80294;REN80295;REN80296;REN80297;REN80298;REN80299;REN80300;REN80301;REN80302;REN80303;REN80304;REN80305;REN80306;REN80307;REN80308;REN80309;REN80310;REN80311;REN80312;REN80313;REN80314;REN80315;REN80316;REN80317;REN80318;REN80319;REN80320;REN80321;REN80322;REN80323;REN80324;REN80325;REN80326;REN80327;REN80328;REN80329;REN80330;REN80331;REN80332;REN80333;REN80334;REN80335;REN80336;REN80337;REN80338;REN80339;REN80340;REN80341;REN80342;REN80343;REN80344;REN80345;REN80346;REN80347;REN80348;REN80349;REN80350;REN80351;REN80352;REN80353;REN80354;REN80355;REN80356;REN80357;REN80358;REN80359;REN80360;REN80361;REN80362;REN80363;REN80364;REN80365;REN80366;REN80367;REN80368;REN80369;REN80370;REN80371;REN80372;REN80373;REN80374;REN80375;REN80376;REN80377;REN80378;REN80379;REN80380;REN80381;REN80382;REN80383;REN80384;REN80385;REN80386;REN80387;REN80388;REN80389;REN80390;REN80391;REN80392;REN80393;REN80394;REN80395;REN80396;REN80397;REN80398;REN80399;REN80400;REN80401;REN80402;REN80403;REN80404;REN80405;REN80406;REN80407;REN80408;REN80409;REN80410;REN80411;REN80412;REN80413;REN80414;REN80415;REN80416;REN80417;REN80418;REN80419;REN80420;REN80421;REN80422;REN80423;REN80424;REN80425;REN80426;REN80427;REN80428;REN80429;REN80430;REN80431;REN80432;REN80433;REN80434;REN80435;REN80436;REN80437;REN80438;REN80439;REN80440;REN80441;REN80442;REN80443;REN80444;REN80445;REN80446;REN80447;REN80448;REN80449;REN80450;REN80451;REN80452;REN80453;REN80454;REN80455;REN80456;REN80457;REN80458;REN80459;REN80460;REN80461;REN80462;REN80463;REN80464;REN80465;REN80466;REN80467;REN80468;REN80469;REN80470;REN80471;REN80472;REN80473;REN80474;REN80475;REN80476;REN80477;REN80478;REN80479;REN80480;REN80481;REN80482;REN80483;REN80484;REN80485;REN80486;REN80487;REN80488;REN80489;REN80490;REN80491;REN80492;REN80493;REN80494;REN80495;REN80496;REN80497;REN80498;REN80499;REN80500;REN80501;REN80502;REN80503;REN80504;REN80505;REN80506;REN80507;REN80508;REN80509;REN80510;REN80511;REN80512;REN80513;REN80514;REN80515;REN80516;REN80517;REN80518;REN80519;REN80520;REN80521;REN80522;REN80523;REN80524;REN80525;REN80526;REN80527;REN80528;REN80529;REN80530;REN80531;REN80532;REN80533;RH10;RH118655;RH119811;RH123757;RH27838;RH66613;RH92751;SGC30866;SHGC-106867;SHGC-132838;SHGC-53228;SHGC-82293;STS-T83848;SYN3__5359;TIMP3_1307;WI-17990;stSG602831;stSG602832;stSG602833;stSG602834;stSG602835;stSG602836;stSG602837;stSG602838;stSG602839;stSG602840;stSG602841;stSG602842;stSG602843;stSG602844;stSG602845;stSG602846;stSG602847;stSG602848;stSG602849;stSG602851;stSG602852;stSG602853;stSG602854;stSG602855;stSG602856;stSG602857;stSG602858;stSG602859;stSG602860;stSG602861;stSG602862;stSG602863;stSG602864;stSG602865;stSG602866;stSG602867;stSG602868;stSG602869;stSG602870;stSG602871;stSG602872;stSG602873;stSG602874;stSG602875;stSG602876;stSG602877;stSG602878;stSG602879;stSG602880;stSG602881;stSG602882;stSG602883;stSG602885;stSG602886;stSG602887;stSG602888;stSG602889;stSG602890;stSG602891;stSG602892;stSG602893;stSG602894;stSG602895;stSG602896;stSG602897;stSG602898;stSG602899;stSG602900;stSG602901;stSG602902;stSG602903;stSG602904;stSG602905;stSG602906;stSG602907;stSG602908;stSG602909;stSG602910;stSG602911;stSG602912;stSG602913;stSG602914;stSG602915;stSG602916;stSG602917;stSG602918;stSG602919;stSG602920;stSG602921;stSG602922;stSG602923;stSG602924;stSG602925;stSG602926;stSG602927;stSG602928;stSG602929;stSG602930;stSG602931;stSG602932;stSG602933;stSG602934;stSG602935;stSG602936;stSG602937;stSG602938;stSG602939;stSG602940;stSG602941;stSG602942;stSG602943;stSG602944;stSG602945;stSG602948;stSG602949;stSG602950;stSG602951;stSG602952;stSG602953;stSG602954;stSG602955;stSG602956;stSG602957;stSG602958;stSG602959;stSG602960;stSG602961;stSG602962;stSG602963;stSG602964;stSG602965;stSG602966;stSG602967;stSG602968;stSG602969;stSG602970;stSG602971;stSG602972;stSG602973;stSG602974;stSG602975;stSG602976;stSG602977;stSG602978;stSG602979;stSG602980;stSG602981;stSG602982;stSG602983;stSG602986;stSG602987;stSG602988;stSG602989;stSG602990;stSG602991;stSG602992;stSG602993;stSG602994;stSG602995;stSG602996;stSG602997;stSG602998;stSG602999;stSG603000;stSG603001;stSG603002;stSG603003;stSG603004;stSG603005;stSG603006;stSG603007;stSG603008;stSG603009;stSG603010;stSG603011;stSG603012;stSG603013;stSG603014;stSG603015;stSG603016;stSG603017;stSG603018;stSG603020;stSG603021;stSG603022;stSG603023;stSG603027;stSG603028;stSG603029;stSG603030;stSG603032;stSG603033;stSG603034;stSG603035;stSG603036;stSG603037;stSG603038;stSG603039;stSG603040;stSG603041;stSG603044;stSG603045;stSG603046;stSG603047;stSG603049;stSG603050;stSG603051;stSG603052;stSG603053;stSG603054;stSG603055;stSG603056;stSG603057;stSG603058;stSG603059;stSG603060;stSG603062;stSG603063;stSG603064;stSG603065;stSG603066;stSG603067;stSG603068;stSG603069;stSG603070;stSG603071;stSG603072;stSG603073;stSG603074;stSG603075;stSG603076;stSG603077;stSG603078;stSG603079;stSG603080;stSG603081;stSG603082;stSG603083;stSG603084;stSG603085;stSG603086;stSG603087;stSG603088;stSG603089;stSG603090;stSG603091;stSG603092;stSG603093;stSG603094;stSG603095;stSG603096;stSG603097;stSG603098;stSG603099;stSG603100;stSG603101;stSG603102;stSG603103;stSG603104;stSG603105;stSG603106;stSG603107;stSG603110;stSG603111;stSG603112;stSG603113;stSG603114;stSG603115;stSG603116;stSG603117;stSG603118;stSG603119;stSG603120;stSG603121;stSG603122;stSG603123;stSG603124;stSG603125;stSG603126;stSG603127;stSG603128;stSG603129;stSG603130;stSG603131;stSG603132;stSG603133;stSG603134;stSG603135;stSG603136;stSG603137;stSG603138;stSG603139;stSG603140;stSG603141;stSG603142;stSG603143;stSG603144;stSG603145;stSG603146;stSG603147;stSG603148;stSG603149;stSG603150;stSG603151;stSG603152;stSG603153;stSG603154;stSG603155;stSG603156;stSG603157;stSG603158;stSG603159;stSG603160;stSG603161;stSG603162;stSG603163;stSG603164;stSG603165;stSG603166;stSG603167;stSG603168;stSG603169;stSG603170;stSG603171;stSG603172;stSG603173;stSG603174;stSG603175;stSG603176;stSG603177;stSG603178;stSG603179;stSG603180;stSG603181;stSG603183;stSG603184;stSG603185;stSG603186;stSG603187;stSG603188;stSG603189;stSG603190;stSG603191;stSG603192;stSG603193;stSG603194;stSG603195;stSG603196;stSG603197;stSG603198;stSG603199;stSG603200;stSG603201;stSG603202;stSG603204;stSG603205;stSG603206;stSG603207;stSG603208;stSG603209;stSG603210;stSG603211;stSG603212;stSG603213;stSG603214;stSG603215;stSG603216;stSG603217;stSG603218;stSG603219;stSG603221;stSG603222;stSG603223;stSG603224;stSG603225;stSG603226;stSG603227;stSG603228;stSG603229;stSG603231;stSG603232;stSG603233;stSG603234;stSG603235;stSG603236;stSG603237;stSG603238;stSG603239;stSG603240;stSG603241;stSG603242;stSG603243;stSG603244;stSG603245;stSG603246;stSG603247;stSG603248;stSG603251;stSG603253 OTTHUMP00000028987;cN28H9.2 (synapsin III);synapsin 3;synapsin-3 APPROVED protein-coding ENSG00000185666 11496 04083 602705 REVIEWED 1602232 SYNDIG1L synapse differentiation inducing 1-like 14 14 14 q24.3 54909910 54930122 - 73942349 73962558 - 74872596 74892805 - 16359841;16344560;14702039;12477932 646658 A6NDD5;G3V402 ABBA01030718;ABBA01030719;AC005479;AK094873;AMYH01005854;BC045804;CK906042;DB173128;DB473943;NM_001105579 A6NDD5;NP_001099049 Hs.12400 1736426;1740677;2126086;2158041;2172029 A004W22;D14S1262;D14S687E;G38084;WI-14279 CAPUCIN;DSPC1;IFITMD4;TMEM90A OTTHUMP00000245449;capucin;caudate- and putamen-enriched sequence;caudate-and putamen-enriched sequence;dispanin subfamily C member 1;interferon induced transmembrane protein domain containing 4;synapse differentiation-inducing gene protein 1-like;transmembrane protein 90A APPROVED protein-coding ENSG00000183379 32388 609999 VALIDATED 1321842 SYNDIG1 synapse differentiation inducing 1 This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013] 20 20 20 p11.21 24524151 24721487 + 24397835 24595167 + 24449835 24647167 + 6480464 15489334;14702039;12477932;11780052;16169070;20379614;17207965;20152115;16344560 79953 Q9H7V2 ABBA01048734;ABBA01048735;ABBA01048736;ABBA01048737;AK024282;AL034426;AL049594;AL157413;AMYH01011785;AMYH01011786;BC030637;CH471133;CR457325;DB306704;NM_024893 AAH30637;ADQ31894;BAB14872;CAG33606;EAX10117;NP_079169;Q9H7V2 Hs.124638 1334626;1337428;1672434;1687021;1724631;1755985;1775333;1846822;2134181;2168414;2180517;2184578;2187785 D20S1035;D20S462;D20S486;D20S558E;D20S754;D20S844;D20S954;G69455;RH121314;RH48635;RH98971;SHGC-142801;STS-AA019613 C20orf39;DSPC2;FLJ14220;IFITMD5;TMEM90B OTTHUMP00000030461;dispanin subfamily C member 2;interferon induced transmembrane protein domain containing 5;synapse differentiation induced gene 1;synapse differentiation-inducing gene protein 1;transmembrane protein 90B APPROVED protein-coding ENSG00000101463 15885 12766 614311 REVIEWED 1348942 SYNE1 spectrin repeat containing, nuclear envelope 1 This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 q25 152484515 153000227 - 152442819 152958534 - 1580863;6480464;7240710 12408964;11801724;12808039;11792814;10878022;18827015;18709643;18649358;17903302;17761684;17503513;17462627;17159980;17081983;16875688;16079285;15093733;14709720;14702039;14574404;12958361;12477932;12358155;12168954;12163176;11214970;10574462;9872452;12812986;21738484;20108321;19944109;20655839;20936779;18029348;18396275;18711365;18726349;19542096;20056644;20201924;20351715;20379614;20811636;22632968;17043677;20360068;21139048;21926972;20682791;22768332;20301553;19805454;22810585;23325900;23453885;17203973;22728879 23345 E7ENN3;E9PEL9;F5GXQ8;F5GYQ7;F5GZ83;F5H422;F5H4Q0;F5H6R8;F8WAI0;H0Y325;H0Y326;H0Y4C0;H0YFT4;H0YGD3;Q5JV20;Q9UJ06 AB018339;AB033088;AB051543;ABBA01025616;ABBA01025617;ABBA01025618;ABBA01025619;ABBA01025620;ABBA01025621;ABBA01025622;ABBA01025623;ABBA01025624;ABBA01025625;ABBA01025626;ABBA01025627;ABBA01025628;ABBA01025629;AF043290;AF444779;AF495910;AF535142;AK055440;AK056122;AK057959;AK091651;AK094094;AK122691;AK123135;AK127076;AK304825;AK308717;AK310977;AK316101;AL049548;AL078582;AL136079;AL138832;AL357081;AL450401;AL589963;AL591507;AL713682;AL833542;AL833657;AMYH01016746;AMYH01016747;AY061755;AY061756;AY135172;AY183142;AY184203;AY184206;BC028616;BC039121;BC090927;BC150289;BK000543;BX537517;BX537837;BX647837;CH471051;CR933676;FM162565;JQ740783;JQ740784;JQ740785;JQ740786;JQ754364;JQ754366;NG_012855;NM_033071;NM_182961 AAC02992;AAH39121;AAH90927;AAI50290;AAL33798;AAL33799;AAL38031;AAM95335;AAN03486;AAN60442;AAO23669;AAO27771;AAO27774;AFN44378;AFN44379;AFN44380;AFN44381;AFN44382;AFN44384;BAA34516;BAA86576;BAB21847;BAB71097;BAC04284;BAG53670;BAG65573;BAH14472;CAD28486;CAD97770;CAD97849;CAI45971;CAQ57272;DAA01060;EAW47727;EAW47728;EAW47729;EAW47730;EAW47731;EAW47732;EAW47733;EAW47734;EAW47735;EAW47736;EAW47737;EAW47738;EAW47739;NP_149062;NP_892006;Q8NF91 Hs.12967 1340697;1647576;1678729;1685199;1693326;1702994;1710076;1710166;1711330;1718109;1718921;1719801;1726293;1730117;1730441;1756147;1756317;1767297;1767299;1779864;1916164;2106675;2121257;2121259;2122928;2130235;2163109;2163111;2164305;2165382;2165912;2181821;2184285;2191031;5014055;5022200;5022588;5022651;5037552;5118576;7185732;7186511;7187041 A001Z10;AL034436;D11S2921;D11S3430;D1S3697;D5S1597E;D6S1063;D6S2420;D6S319E;D6S332;D6S420;D8S2279;DXS1372;G09480;G10555;G19809;G62447;L18426;MARC_13649-13650:1002828252:2;REN28893;RH122669;RH123167;RH123593;RH45909;RH48777;RH66036;RH91883;RH91895;SGC38197;SHGC-142967;SHGC-143301;SHGC-153861;SHGC-36925;SHGC-37103;SHGC-82346;SHGC-83698;SHGC-84919;STS-N23629;STS-Z40975;SYNE1__5361 8B;ARCA1;C6orf98;CPG2;DKFZp781J13156;EDMD4;FLJ30878;FLJ41140;KIAA0796;KIAA1262;KIAA1756;MYNE1;Nesp1;SCAR8;dJ45H2.2 OTTHUMP00000017438;OTTHUMP00000017440;OTTHUMP00000017441;OTTHUMP00000205471;OTTHUMP00000205472;OTTHUMP00000237449;enaptin;myocyte nuclear envelope protein 1;nesprin 1;nesprin-1;nuclear envelope spectrin repeat protein 1;nuclear envelope spectrin repeat-1;synaptic nuclear envelope protein 1;synaptic nuclei expressed gene 1 APPROVED protein-coding ENSG00000131018 17089 09762 608441;610743;612998 REVIEWED 1353044 SYNGAP1 synaptic Ras GTPase activating protein 1 The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009] 6 6 p21.3 33495825 33529444 + 33387847 33421466 + 1580863;6480464;7240710;7240705 22717267 11572484;21237447;19196676;18323856;16344560;15358237;15312654;15146197;15044063;15014045;14970204;14702039;14574404;12951199;12598599;11782456;11487731;11278737;10862698;9620694;9581761;9405464;1374684;22939629;19483657;19851445;20188038;20531469;21480541;23161826 8831 B1AZX6;B7ZCA0;Q96PV0 ABBA01038148;ABBA01038149;ABBA01038150;ABBA01038151;AK094225;AK307888;AL021366;AL662799;AL713634;AMYH01016245;AMYH01016246;AMYH01016247;BM354009;BX088650;BX282051;CH471081;CN412954;DA057307;NG_016137;NM_006772 AAI48358;CAA16161;CAD28452;EAX03735;EAX03736;EAX03737;EAX03738;NP_006763;Q96PV0 Hs.586264 2108549;5127011 RH36442;SYNGAP1_8862 DKFZp761G1421;KIAA1938;MRD5;RASA1;RASA5;SYNGAP OTTHUMP00000029119;OTTHUMP00000165802;OTTHUMP00000209046;neuronal RasGAP;ras GTPase-activating protein SynGAP;ras/Rap GTPase-activating protein SynGAP;synaptic Ras GTPase activating protein 1 homolog;synaptic Ras GTPase activating protein, 135kDa;synaptic Ras GTPase-activating protein 1 APPROVED protein-coding ENSG00000197283 11497 16018 603384;612621 REVIEWED 1345958 SYNGR2P1 synaptogyrin 2 pseudogene 1 15 15 15 q13.2 7978688 7980332 + 28123835 28125675 + 30336643 30338283 + 9760194 283698 ABBA01010407;AC111152;AJ002313;AMYH01006502;NG_003218 1694708 G43544 SYNGR2P pseudo 11500 INFERRED 2290517 SYNGR2P2 synaptogyrin 2 pseudogene 2 9 9 9 q21.2 51341944 51343412 - 79954378 79956043 - 80764658 80766126 - 138916 ABBA01033942;AL353705;AMYH01021434;NG_001541 pseudo 33947 INFERRED 1312072 SYNE3 spectrin repeat containing, nuclear envelope family member 3 14 14 14 q32.13 75939532 75997875 - 94953584 95011926 - 95883831 95942173 - 6480464 18827015;16330710;14702039;12508121;12477932;8889548;18396275;21937718;23478653 161176 G3V533;Q6ZMZ3 ABBA01048603;ABBA01048604;AK098471;AK131436;AL138539;AMYH01005974;BC061899;BC146604;BM701154;BX248076;BX342493;BX346277;BX648302;NM_152592 AAH61899;AAI46605;BAC05312;BAD18582;CAD62365;NP_689805;Q6ZMZ3 Hs.354645 1675752;1727805;1783044 G63168;RH92376;SHGC-144584 C14orf49;FLJ25605;MGC75267;NET53;Nesp3 OTTHUMP00000246622;OTTHUMP00000246623;nesprin-3;nuclear envelope spectrin repeat protein 3 APPROVED protein-coding ENSG00000176438 19861 12652 610861 VALIDATED 1313857 SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011] 6 6 q14-q15 86380658 86409746 - 86317502 86353043 - 1580863;6480464 17332742;9847309;12674497;17353931;19232660;19137262;18794368;21145461;17010310;16765914;16344560;15635413;15489334;15479637;15475564;15340051;14702039;14574404;12601080;12477932;12388589;12376575;11994298;11991638;11773003;11574476;11352648;11134005;11051545;10734137;9731529;8125298;9341187;12183049;20431927;17643375;19029303;19808671;17289661;21832049;22939629;23184937;19523114;21182205;22863883;19535251;20360068;21715376;16196087;20000738;19471022;21139048;21890473;21906983;22145905;21628590;17370265;18457437;18781797;22178446;22446626;22586326;12565831;19060904;19738201;19805454;20085233;21963094;22365833;22623428;22751105;23000965;23151878;23246001;19808571;22053931;22174317;22797925 10492 B7Z645;F6UXX1;H0YAA0;Q59GL1;Q96LC1 AA411631;AB209098;ABBA01040477;AF037448;AF155568;AK056188;AK222776;AK294212;AK299796;AK313572;AL136082;AMYH01016480;AY034481;AY034482;AY034483;BC009176;BC015575;BC021932;BC024283;BC032643;BC040844;BF221524;CH471051;CV806885;DA117533;DA845413;DB160837;NG_031848;NM_001159673;NM_001159674;NM_001159675;NM_001159676;NM_001159677;NM_001253771;NM_006372 AAC12926;AAD38198;AAH15575;AAH24283;AAH32643;AAH40844;AAK59703;AAK59704;AAK59705;ADZ16027;BAD92335;BAD96496;BAG36345;BAH11699;BAH13131;EAW48622;EAW48623;EAW48624;EAW48625;EAW48626;EAW48627;EAW48628;EAW48629;EAW48630;NP_001153145;NP_001153146;NP_001153147;NP_001153148;NP_001153149;NP_001240700;NP_006363;O60506 Hs.571177 1648783;1649076;1666364;1690714;1775466;1788448;2116339;5493921 HUM000S437;RH16146;RH78135;RH78560;RH92122;SGC32670;Syncrip;fj44g04.x1 FLJ31626;GRY-RBP;GRYRBP;HNRNPQ;HNRPQ1;NSAP1;PP68;dJ3J17.2;hnRNP-Q NS1-associated protein 1;OTTHUMP00000016815;OTTHUMP00000016816;glycine- and tyrosine-rich RNA-binding protein;heterogeneous nuclear ribonucleoprotein Q;hnRNP Q;synaptotagmin-binding, cytoplasmic RNA-interacting protein APPROVED protein-coding ENSG00000135316 16918 06734 REVIEWED 1602427 SYNE4 spectrin repeat containing, nuclear envelope family member 4 19 19 19 q13.12 33208182 33213852 - 41185842 41191512 - 36494002 36499672 - 6480464 14702039;12477932;21900206 163183 D6RAE3;H0Y9Z1;H9KVA3;Q8N205 ABBA01018777;AC002116;AF038458;AK093764;AMYH01009737;BC038360;BC052573;NM_001039876 AAH52573;BAC04222;NP_001034965;Q8N205 Hs.436743 1670380;5022578 D1S1423;RH48333 C19orf46;FLJ36445;Nesp4 OTTHUMP00000045815;OTTHUMP00000219032;OTTHUMP00000219035;nesprin-4;nuclear envelope spectrin repeat protein 4 APPROVED protein-coding ENSG00000181392 26703 08776 VALIDATED 1312719 SYNE2 spectrin repeat containing, nuclear envelope 2 The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 14 14 q23.2 63389436 63762920 + 64319683 64693167 + 1580863;6480464;7240710 18827015;18477613;17881656;17761684;17462627;17081983;16344560;16079285;15843432;15790807;15671068;15489334;14702039;12958361;12508121;12477932;12408964;12168954;12118075;11792814;11230166;10878022;10231032;20801886;18029348;18396275;19596235;19861416;19933576;20237496;20379614;20108321;22544366;21820406;20811636;22939629;21139048;15840729;21900206;23314748;22424883;22768332;22586326;22632968;21853274;22505724 23224 G3V2Q0;G3V3D4;G3V403;G3V4T3;G3V5D3;G3V5N1;G3V5X4;Q6MZP0;Q86YP9;Q8WXH1 AB023228;ABBA01018343;ABBA01018344;ABBA01018345;ABBA01018346;ABBA01018347;ABBA01018348;ABBA01018349;ABBA01018350;ABBA01018351;AF357236;AF435010;AF435011;AF495911;AI685725;AK001876;AK074055;AK090430;AK095087;AK095241;AK125715;AK127612;AK128631;AK297874;AK298465;AL080133;AL117404;AL162832;AL355094;AL359235;AMYH01005795;AMYH01005796;AMYH01005797;AMYH01005798;AY061757;AY061758;AY061759;AY184204;AY184205;AY927627;BC036941;BC042134;BC071873;BC154417;BX537642;BX538095;BX640974;BX648234;CH471061;CR749324;DA825926;DB271849;JQ754367;NG_011756;NM_015180;NM_182910;NM_182913;NM_182914 AAH42134;AAH71873;AAL33547;AAL33548;AAL33800;AAL33801;AAL33802;AAN60443;AAO27772;AAO27773;AAQ15171;AFN44385;BAA76855;BAB84881;BAC03411;BAC04506;BAG60199;BAG60678;CAB45729;CAB55905;CAD98013;CAE45988;CAH18179;EAW80838;EAW80839;EAW80840;EAW80841;EAW80842;EAW80843;EAW80844;NP_055995;NP_878914;NP_878917;NP_878918;Q8WXH0 Hs.745014 1335679;1654204;1662605;1697736;1716535;1720299;1752857;1770990;1847707;1848261;1856354;2109919;2124054;2126729;2131117;2143223;2143619;2166640;2186023;5015881;5016403;5109759;7184420;7185514 A004F18;D14S63;D14S636E;D14S754;G02304;G35494;G35596;G35928;G35954;G35964;G35984;G36157;GDB:335751;RH102390;RH121553;RH123898;RH65918;SHGC-106707;SHGC-33866;SHGC-37484;SHGC-63651;SYNE2_9322 DKFZp434H2235;DKFZp686E01115;DKFZp686H1931;EDMD5;FLJ11014;FLJ43727;FLJ45710;FLJ46790;KIAA1011;NUA;NUANCE;Nesp2;Nesprin-2;SYNE-2;TROPH OTTHUMP00000179075;OTTHUMP00000245231;OTTHUMP00000245355;OTTHUMP00000245357;OTTHUMP00000245358;nesprin 2;nesprin-2;nuclear envelope spectrin repeat protein 2;nuclear envelope spectrin repeat-2;nucleus and actin connecting element protein;polytrophin;synaptic nuclear envelope protein 2;synaptic nuclei expressed gene 2 APPROVED protein-coding ENSG00000054654 17084 09763 608442;612999 REVIEWED 6481129 SYNJ2-IT1 SYNJ2 intronic transcript 1 (non-protein coding) 6 158422139 158423415 + 100874300 ABBA01021105;AL139330;AMYH01016779;BI831676;NR_046796 Hs.742238 miscrna 41387 PREDICTED 1317104 SYNGR4 synaptogyrin 4 This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 45732901 45744878 + 53559469 53571446 + 48867651 48879634 + 1580863;6480464 12477932;10708517;9760194 23546 M0QXW6;M0QYL0;M0R1Y8;O95473 ABBA01032999;AC011514;AI222412;AJ011733;AMYH01009900;BC106891;BG720827;CH471177;NM_012451 AAI06892;CAA09754;EAW52339;NP_036583;O95473 Hs.408333 2161658 WI-10353 MGC125805 synaptogyrin-4 APPROVED protein-coding ENSG00000105467 11502 10520 608373 REVIEWED 732040 SYNGR2 synaptogyrin 2 This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 72761072 72765440 + 73676266 73680604 + 76164671 76169009 + 1580863;6480464 9760194;15489334;12975309;12477932;9446595;21139048;21890473 9144 K7EJ35;K7ELD9;K7ELS8;K7ENG9;O43760;Q3KQZ2 ABBA01002941;ABBA01002942;AC021593;AJ002308;AJ002310;AJ002312;AL833010;AMYH01008663;AMYH01008664;AY358916;BC000407;BC029755;BC105992;BF198109;CH471099;NM_004710 AAH00407;AAH29755;AAI05993;AAQ89275;ABM82758;ABM85945;CAA05325;CAA05327;CAH56291;EAW89499;EAW89500;EAW89501;EAW89502;EAW89503;EAW89504;NP_004701;O43760 Hs.464210;Hs.708616 1694708;5109281 D1S1425;G43544 MGC102914 cellugyrin;synaptogyrin-2 APPROVED protein-coding ENSG00000108639 11499 04891 603926 REVIEWED 1323444 SYNGR3 synaptogyrin 3 This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010] 16 16 16 p13 2252147 2256455 + 1979969 1984277 + 2039946 2044276 + 1580863;6480464 9760194;15489334;12477932;14755516;19357284;20224928;21139048 9143 H3BNA6;H3BPJ5;H3BQ28;O43761 ABBA01030283;AC005606;AJ002309;AK313894;AMYH01007046;AMYH01007047;BC009568;BC014087;BG699055;CH471112;NM_004209 AAH09568;AAH14087;ABM83277;ABM86481;BAG36617;CAA05326;EAW85577;NP_004200;O43761 Hs.435277 1650108;1655224;2108551;2172315 D3S3542;RH66376;SHGC-61093;SYNGR3_8904 MGC20003;MGC:20003 OTTHUMP00000158899;synaptogyrin-3 APPROVED protein-coding ENSG00000127561 11501 06801 603927 REVIEWED 736639 SYNGR1 synaptogyrin 1 This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008] 22 22 q13.1 38075900 38111539 + 39745954 39781593 + 1580863;6480464 9760194;17081065;17049558;16344560;16215643;15489334;15461802;14732601;12477932;11086983;10595519;10591208;19641478;19665806;21139048;21890473;22675529;22505724;23000965;23382691 9145 A2A283;B5MCD7;F8WCE4;O43759 AA412350;ABBA01055564;ABBA01055565;AI278583;AJ002303;AJ002304;AJ002305;AK289507;AK295863;AL022326;AMYH01012778;AW304782;BC000731;BI667990;BT007135;BX501388;CH471095;CR456590;DA337769;NM_004711;NM_145731;NM_145738 AAH00731;AAP35799;BAF82196;BAH12206;CAA05320;CAA05321;CAA05322;CAG30476;CAK54621;CAK54920;EAW60321;EAW60322;EAW60323;EAW60324;NP_004702;NP_663783;NP_663791;O43759 Hs.216226 1655648;1707490;1716673 D22S1047;RH121595;SHGC-84542 MGC1939;MGC:1939 OTTHUMP00000028972;OTTHUMP00000165911;OTTHUMP00000165912;OTTHUMP00000199080;synaptogyrin-1 APPROVED protein-coding ENSG00000100321 11498 06800 603925 REVIEWED 69491 SYNJ1 synaptojanin 1 This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 21 21 q22.2 32922944 33022148 - 34001069 34100351 - 1580863;6480464;6484113;6907045 9428629;18539136;18281508;17158794;16344560;16137687;15821731;15342556;15261714;14704270;12829691;12805586;12477932;12168954;11443522;11292345;11086983;11082044;10830953;10816441;10773674;10764144;10542231;10373452;10048485;9388224;9341169;9238017;9195986;8889548;7982917;22511594;23115165;19531213;12057195 8867 B9EGN3;C9J1Z6;C9JFZ1;C9JW66;H7BZ56;H7BZC2;H7C3R5;J3KPK1;J3KQV8;O43426;Q05CZ1 AB020717;ABBA01057320;AF009039;AF009040;AK295706;AK304044;AK307762;AL109818;AMYH01012202;AP000275;AP000276;AP000277;AP000278;AP000279;BC019630;BC067231;BC098395;BC136603;BP350252;CA944966;CH471079;DB071394;DQ421853;FB336896;HH768235;NG_030017;NM_001160302;NM_001160306;NM_003895;NM_203446 AAC51921;AAC51922;AAH19630;AAH98395;AAI36604;ABD77575;BAA74933;BAG58552;BAG64955;CAR81404;CBX84866;EAX09863;EAX09864;NP_001153774;NP_001153778;NP_003886;NP_982271;O43426 Hs.473632 1652690;1655055;1661094;1730855;1759855;1799026;1799350;1800398;1800494;1800736;1800904;1801366;1801486;1801630;1802174;1802286;1802360;1802598;1802788;1803504;1803820;1804062;1804236;1804882;1805098;1805370;1806694;1807084;1807426;1807886;1808012;1808868;1810244;1810760;1811528;1811616;1811788;1812156;1812564;1812796;1813004;1813308;1815404;1815532;1819008;1819384;1819506;1820268;1820472;1820538;1820596;1821642;1821932;1822168;1823180;1823244;1823404;1824176;1825260;1825508;1825588;1825738;1827388;1829208;1829762;1829876;1829936;1830122;1830610;1831550;1832160;1832452;1832454;1833312;1833466;1833630;1833674;1833742;1835420;1836692;1837080;1838358;1840200;1840378;1840436;1841686;1842106;1843968;1844028;1844376;1844580;1844582;1845744;1845952;1846466;1850193;1850195;2021608;2021610;2021612;2021614;2021616;2021618;2021620;2021622;2021624;2021626;2021628;2021630;2021632;2021634;2021636;2021638;2021640;2021642;2021644;2021646;2021648;2021650;2021652;2021654;2021656;2021658;2021660;2021662;2021664;2021666;2021668;2021670;2021672;2021674;2021676;2021678;2021680;2021682;2021684;2021686;2021688;2021690;2021692;2021694;2021696;2021698;2021700;2021702;2021704;2021706;2021708;2021710;2021712;2021714;2021716;2021718;2021720;2021722;2021724;2021726;2021728;2021730;2021732;2021734;2021736;2021738;2021740;2021742;2021744;2021746;2021748;2021750;2021752;2021754;2021756;2021758;2021760;2021762;2021764;2021766;2021768;2021770;2021772;2021774;2021776;2021778;2021780;2021782;2021784;2021786;2021788;2021790;2021792;2021794;2021796;2021798;2021800;2021802;2021804;2021806;2021808;2021810;2021812;2021814;2021816;2021818;2021820;2021822;2021824;2021826;2021828;2021830;2021832;2021834;2021836;2021838;2021840;2021842;2021844;2021846;2021848;2021850;2021852;2021854;2021856;2021858;2021860;2021862;2021864;2021866;2021868;2021870;2021872;2021874;2021876;2021878;2021880;2021882;2021884;2021886;2021888;2021890;2021892;2021894;2021896;2021898;2021900;2021902;2021904;2021906;2021908;2021910;2021912;2021914;2021916;2021918;2021920;2021922;2021924;2021926;2021928;2021930;2021932;2021934;2021936;2021938;2021940;2021942;2021944;2021946;2021948;2021950;2021952;2021954;2021956;2021958;2021960;2021962;2021964;2021966;2021968;2021970;2021972;2021974;2021976;2021978;2021980;2021982;2021984;2021986;2021988;2021990;2021992;2021994;2021996;2021998;2022000;2022002;2022004;2022006;2022008;2022010;2022012;2022014;2022016;2022018;2022020;2022022;2022024;2022026;2022028;2022030;2022032;2022034;2022036;2022038;2022040;2022042;2022044;2022046;2022048;2022050;2022052;2022054;2022056;2022058;2022060;2022062;2022064;2022066;2022068;2022070;2022072;2022074;2022076;2022078;2022080;2022082;2022084;2022086;2022088;2022090;2022092;2022094;2022096;2022098;2022100;2022102;2022104;2022106;2022108;2022110;2022112;2022114;2022116;2022118;2022120;2022122;2022124;2022126;2022128;2022130;2022132;2022134;2022136;2022138;2022140;2022142;2022144;2022146;2022148;2022150;2022152;2022154;2022156;2022158;2022160;2022162;2022164;2022166;2022168;2022170;2022172;2022174;2022176;2022178;2022180;2022182;2022184;2022186;2022188;2022190;2022192;2022194;2022196;2022198;2022200;2022202;2022204;2022206;2022208;2022210;2022212;2022214;2022216;2022218;2022220;2022222;2022224;2022226;2022228;2022230;2022232;2022234;2022236;2022238;2022240;2022242;2022244;2022246;2022248;2022250;2022252;2022254;2022256;2022258;2022260;2022262;2022264;2022266;2022268;2022270;2022272;2022274;2022276;2022278;2022280;2022282;2022284;2022286;2022288;2022290;2022292;2022294;2022296;2022298;2022300;2022302;2022304;2022306;2022308;2022310;2022312;2022314;2022316;2022318;2022320;2022322;2022324;2022326;2022328;2022330;2022332;2022334;2022336;2022338;2022340;2022342;2022344;2022346;2022348;2022350;2022352;2022354;2022356;2022358;2022360;2022362;2022364;2022366;2022368;2022370;2022372;2022374;2022376;2022378;2022380;2022382;2022384;2022386;2022388;2022390;2022392;2022394;2022396;2022398;2022400;2022402;2022404;2022406;2022408;2022410;2022412;2022414;2022416;2022418;2022420;2022422;2022424;2022426;2022428;2022430;2022432;2022434;2022436;2022438;2022440;2022442;2022444;2022446;2022448;2022450;2022452;2022454;2022456;2022458;2022460;2100076;2100078;2100080;2100082;2100084;2100086;2100088;2100090;2100092;2100094;2100096;2100098;2100100;2100102;2100104;2100106;2100108;2100110;2100112;2100114;2100116;2100118;2100120;2100122;2100124;2100126;2100128;2100130;2100132;2100134;2100136;2100138;2100140;2100142;2100144;2100146;2100148;2100150;2100152;2100154;2100156;2100158;2100160;2100162;2100164;2100166;2100168;2100170;2100172;2100174;2100176;2100178;2100180;2100182;2100184;2100186;2100188;2100190;2100192;2100194;2100196;2100198;2100200;2100202;2100204;2100206;2100208;2100210;2100212;2100214;2100216;2100218;2100220;2100222;2100224;2100226;2143919 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INPP5G OTTHUMP00000067396;OTTHUMP00000067399;inositol 5'-phosphatase (synaptojanin 1);synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1;synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1;synaptojanin-1;synaptojanin-1, polyphosphoinositide phosphatase APPROVED protein-coding ENSG00000159082 11503 09182 604297 REVIEWED 1354169 SYNM synemin, intermediate filament protein The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 15 15 q26.3 97462809 97493323 + 99645286 99675800 + 1580863;6480464 16751776;11353857;16777071;18028034;18342854;11737198;14552890;18084875;17564317;17081983;16476617;15657940;15318345;12887813;12669240;12477932;11683385;11454237;9205841;21145461;20543860;20573469;19853601;20199207;21144834;10748223;17437541;18388313;8552632;9182529;9736607;21906983;22337773;15872089 23336 C9JIE4;H0YL34;O15061 AB002351;ABBA01020557;AC036108;AC223423;AF359284;AJ310521;AJ310522;AJ697971;AK026420;AL833262;AMYH01006966;AW292788;BC022358;BC063699;BC110066;BC151243;CH471101;DQ581412;NG_008210;NM_015286;NM_145728 AAI10067;AAI51244;AAK57487;BAA20810;CAC83858;CAC83859;CAG27071;EAX02230;EAX02231;EAX02232;NP_056101;NP_663780;O15061 Hs.207106 1661114;1679702;1736486;1794674;1794676;1794678;1794680;1794682;1794684;1794686;1794688;1794690;1794692;1794694;2158023 D15S697E;PMC34549P1;PMC34549P10;PMC34549P11;PMC34549P2;PMC34549P3;PMC34549P4;PMC34549P5;PMC34549P6;PMC34549P7;PMC34549P8;PMC34549P9;RH70301;RH98741;WI-15574 DMN;KIAA0353;SYN desmuslin;synemin;synemin alpha;synemin beta APPROVED protein-coding ENSG00000182253 24466 07305 606087 REVIEWED 6481366 SYNPR-AS1 SYNPR antisense RNA 1 3 63409272 63535727 - 100874016 ABBA01024321;ABBA01024322;AC099056;AC104436;AMYH01013246;BU959256;NR_046677 Hs.441275 APPROVED miscrna ENSG00000241359 40774 PREDICTED 69494 SYNJ2 synaptojanin 2 The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 6 6 q25.3 158322907 158439556 + 158402888 158520208 + 1300048;1580863;6480464;6907045 22823124;17474147;16102578;15548694;15489334;14574404;14562116;12805586;12477932;12421765;11498538;11084340;10805734;10357812;9388224;9205841;12456676;15778465;20936779;12699622;16344560;17562712;21555518;22045296;22213687;15090612;19531213;20360068;21890473;21906983;22558309;23076136;23300701 8871 B4DG94;B4DJU8;E7ER60;H0YEV8;H7BY56;O15056;Q5TA15 AB002346;ABBA01021101;ABBA01021102;ABBA01021103;ABBA01021104;ABBA01021105;AF039945;AF086449;AF318616;AK074294;AK294480;AK296242;AK296935;AK309018;AL139330;AL157424;AMYH01016779;AY152396;BC042971;BC043277;BX648749;CH471051;DA327619;FB336978;HH768317;NG_029907;NM_001178088;NM_003898 AAD02178;AAG46036;AAH43277;AAN73051;BAA20805;BAG57705;BAG58960;BAG59486;CAR81445;CBX84907;EAW47665;EAW47666;EAW47667;NP_001171559;NP_003889;O15056 Hs.434494 1341478;1669484;2165730;2168604;2219732;5015619;5022322;5024039;5037552;5109663;5118877 D11S2560;D11S3114;D11S3745;D16S325;D6S959;D7S2067E;D8S2279;SHGC-57752;STS-AA025833;STS-F13787;SYNJ2__5364 INPP5H;KIAA0348;MGC44422 OTTHUMP00000017494;inositol phosphate 5'-phosphatase 2;synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2;synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2;synaptojanin-2 APPROVED protein-coding ENSG00000078269 11504 10259 609410 REVIEWED 1344756 SYNPO2 synaptopodin 2 4 4 q26 120029444 120201848 + 119809996 119982402 + 1580863;6480464 18371299;17828378;16381901;15489336;15111326;12917631;12637565;12477932;11673475;11256614;11230166;11076863;8593614;20936779;20554076;19360353;20332099;21643011;22252522;21139048 171024 B4E258;H0Y9Y3;Q9UMS6 ABBA01044696;ABBA01044697;ABBA01044698;ABBA01044699;ABBA01044700;ABBA01044701;AC096745;AC107048;AC108030;AF177291;AJ010482;AK000774;AK296962;AK304121;AK307711;AL832031;AL832363;AL833294;AL833547;AMYH01014484;BC136256;BC150629;BX647849;BX648090;CR936673;EU481975;FN422000;NM_001128933;NM_001128934;NM_133477 AAD55264;AAI36257;AAI50630;ACC93875;BAG59506;BAG65020;CAB51856;CAL37726;CAL38729;CAZ66141;NP_001122405;NP_001122406;NP_597734;Q9UMS6 Hs.655519 1654088;1654090;1663667;1663669;1670246;1680244;1682864;1682908;1705116;1705818;1715039;1771110;1772697;1775372;2118725;2130647;2136638;2137371;2141932;2149118;2173099;2173629;2175691;2175693;2182589;2182689;2186198;2186200;2186599;5015861;5020948;5022200;5022923;5118444;7185938 A006B40;D10S16;D11S3316;D4S1172;D4S1271;D4S2494E;D4S2499E;D4S2524E;D4S2802;G20686;G33852;G35510;L18426;RH119821;RH41926;RH91250;RH93997;SHGC-24073;SHGC-24076;SHGC-24709;SHGC-24713;SHGC-31993;SHGC-50261;SHGC-50263;SHGC-51065;SHGC-67326;SHGC-67749;SHGC-67759;SHGC-77833;SHGC-79982;SHGC-8563;STS-H16233;WI-11067;ksks245 DKFZp686G051 OTTHUMP00000219830;OTTHUMP00000219831;OTTHUMP00000219832;OTTHUMP00000222246;genethonin 2;genethonin-2;myopodin;synaptopodin-2 protein-coding ENSG00000172403 17732 15456 VALIDATED 1348800 SYNPO2L synaptopodin 2-like 10 10 10 q22.2 68690238 68701428 - 75075296 75080793 - 75404644 75415832 - 1580863;6480464 22544366;15164054;14702039;12477932;8889549;16385451 79933 A6NCR3;Q9H987 AA176924;AB188489;ABBA01020316;AC073389;AK022983;AK095931;AK295873;AMYH01002828;BC131776;BC142635;BX502518;CH471083;NM_001114133;NM_024875;W92641 AAI31777;AAI42636;BAB14346;BAD37139;BAG53169;BAG58671;EAW54507;EAW54508;NP_001107605;NP_079151;Q9H987 Hs.645273 1339187;1698712;1731068;1731154;1736042;5021872;5022651;5491549;7183408 D10S1313E;D10S188;D10S283;D10S463;D11S2921;MARC_17634-17635:1019143787:1;RH102916;sY3084 FLJ12921 OTTHUMP00000019821;OTTHUMP00000019822;OTTHUMP00000196456;synaptopodin 2-like protein protein-coding ENSG00000166317 23532 15457 VALIDATED 6481391 SYP-AS1 SYP antisense RNA 1 100873921 AF196779 APPROVED miscrna 40571 736800 SYNJ2BP synaptojanin 2 binding protein 14 14 14 q24.2 50897314 50948137 - 69902966 69953560 - 70833213 70883807 - 1580863;6480464 19349195;15489334;15451561;15342556;14702039;12477932;11882656;11696420;11673475;10827173;10357812;18029348;20379614;21832049;22939629;21139048;21890473;18845145 55333 P57105 ABBA01030812;ABBA01030813;ABBA01030814;AK002133;AK123967;AK311719;AL356804;AMYH01005828;AY534623;BC007704;BP195583;BQ775922;CH471061;NM_018373 AAH07704;AAT01566;BAA92098;EAW81032;EAW81033;NP_060843;P57105 Hs.443661;Hs.704691 1659943;1661416;1664389;1681082;1769765;1850496;2219730;5015861;5037552;5092906;5109281;7185938 A009C06;D10S16;D14S1315;D14S682E;D14S841;D1S1425;D8S2279;G32405;G35968;RH93755;SYNJ2BP__5365 ARIP2;FLJ11271;FLJ41973;OMP25 OTTHUMP00000245525;activin receptor interacting protein 5;mitochondrial outer membrane protein 25;synaptojanin-2-binding protein protein-coding 18955 15455 609411 VALIDATED 735343 SYNPO synaptopodin Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008] 5 5 q33.1 150000433 150017145 + 149980642 150038792 + 6480464 15841212;17255128;17081983;16622418;16564554;16381901;15659229;15592455;15489336;15342556;14702039;12477932;12042308;11230166;11076863;10470851;9314539;7566098;16260903;15343382;20936779;20630939;11256614;16344560;18596123;19666657;20201926;8681137;22217474;21655212;21139048;19531213 11346 Q71HJ6;Q8N3V7 AA303936;AB028952;ABBA01026275;AC008453;AC011383;AF499136;AF499137;AF499138;AJ278122;AK091066;AK095279;AK127049;AK290178;AL049298;AL049959;AL831818;AMYH01015709;BC042624;BC113927;BC114512;BC142683;BC146665;BC152538;BP237193;CH471062;DA333058;F30246;NM_001109974;NM_001166208;NM_001166209;NM_007286;Y11072 AAI42684;AAI46666;AAI52539;AAQ07402;AAQ07403;AAQ07404;BAA82981;BAF82867;BAG54430;CAA71955;CAD38532;CAL37703;CAL38321;EAW61715;EAW61716;NP_001103444;NP_001159680;NP_001159681;NP_009217;Q8N3V7 Hs.435228 1335587;1339737;1667267;1670744;1706440;1730958;1735452;1740481;1785298;2151269;2152647;2184931;2219734;7183983 D5S1580E;D5S2275E;D5S2457;D5S470;D5S519;D5S640;RH16488;RH47246;SGC34491;SHGC-110298;SHGC-80801;SYNPO__5366;WI-17444 KIAA1029 OTTHUMP00000160556;OTTHUMP00000160557;OTTHUMP00000227738;OTTHUMP00000227739;synaptopodin APPROVED protein-coding ENSG00000171992 30672 12179 608155 VALIDATED 731737 SYNPR synaptoporin 3 3 3 p14.2 63280648 63619333 + 63404064 63577637 + 63263914 63602597 + 1580863;6480464 16381901;16344560;15489336;15489334;14702039;12974474;12740598;12477932;12271488;11230166;11076863;8034131;20379614 132204 B3KVD8;C9J0A2;C9J976;F8WDB8;F8WDF9;F8WE43;F8WF23;Q8TBG9 ABBA01024318;ABBA01024319;ABBA01024320;ABBA01024321;ABBA01024322;ABBA01024323;ABBA01024324;AC099056;AC099545;AC104436;AF411860;AK122831;AK293628;AK309017;AK312465;AK315958;AL834457;AMYH01013246;AMYH01013247;BC022518;CH471055;CR936762;DA505318;NM_001130003;NM_144642 AAH22518;AAN03681;ACE86519;ACE87198;BAG35372;BAG53750;BAH11552;BAH14329;CAD39117;CAL37973;EAW65413;EAW65414;NP_001123475;NP_653243;Q8TBG9 Hs.648668 1337420;1688420;1706944;1719699;1727587;1749293;1755269;1759155;2117037;2127967;2155735;2177073;7186424 D3S1600;G16601;G63202;RH123538;RH92939;SHGC-110965;SHGC-142164;SHGC-150704;SHGC-77048;SHGC-80966;STS-N35684;WI-15921 DKFZp686G0883;MGC26651;SPO OTTHUMP00000213286;OTTHUMP00000213288;OTTHUMP00000213289;OTTHUMP00000213291;OTTHUMP00000213292;OTTHUMP00000213294;synaptoporin;synaptorin protein-coding ENSG00000163630 16507 15458 VALIDATED 1642399 SYS1-DBNDD2 SYS1-DBNDD2 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription from the neighboring SYS1 Golgi-localized integral membrane protein homolog and dysbindin domain containing 2 (DBNDD2) genes. The read-through transcript includes the majority of exons from each individual gene, but it would be subject to nonsense-mediated mRNA decay (NMD) and is therefore predicted to be non-coding. [provided by RefSeq, Oct 2010] 20 20 20 q13.12 40700358 40747756 + 43425254 43472661 + 43991809 44039250 + 12477932;20967262;11181995 767557 F2Z2A3;H3BUS1 ABBA01052660;AL021578;AMYH01011937;BC023562;BI199175;CH471077;DN994280;NR_003189 EAW75855 Hs.730643 1675279;1679299;1772918;1852021;2140419;2140421;2172654;2190969 A002A22;G19851;MARC_12165-12166:1004710367:1;RH18508;RH44476;RH75592;STS-Z40239;WI-16033 C20orf169-DBNDD2 APPROVED miscrna ENSG00000254806 33535 VALIDATED 737494 SYP synaptophysin This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011] X X p11.23-p11.22 48931209 48943605 - 49044265 49056661 - 730100;1580863;6480464;7240710 3120152 11426054;10620806;1975480;19652998;18771509;18006193;17916412;17724707;17331077;17005904;16894395;16807900;16721760;16082702;15694236;15489334;14702039;12826904;12701886;12575533;12498786;12493563;12492469;12485399;12477932;12403815;12181340;12137757;12107411;12097487;12077483;11786535;11508360;11472886;10595912;10541003;9930883;9889259;9344658;9112016;8772779;8547634;2163183;1908157;7553862;7534299;22843923;17207965;19724850;17500595;19377476;20847448;21073671;23022470;22348818;22099865;22210727;22055401;22449227;23292839;23242284 6855 B7Z359;F2Z3E1;G5E9A2;H7C4W3;P08247 ABBA01046133;ABBA01046134;AC232271;AF196779;AK094376;AK295524;AK313030;AK315953;AMYH01022294;BC032385;BC064550;BQ637168;CH471224;NG_012532;NM_003179;U93305;X06389 AAB92358;AAH64550;ADQ32566;BAG35863;BAH12095;BAH14324;CAA29686;EAW50684;EAW50685;NP_003170;P08247 Hs.632804 1742947;1853198;2106677;2113218;2142085;2161974;5125682;7186504 DXS1007E;DXS9785;DXS9881E;G15886;GDB:216846;RH18083;SYP__5369 MRXSYP OTTHUMP00000032504;OTTHUMP00000216753;OTTHUMP00000216756;major synaptic vesicle protein P38;synaptophysin APPROVED protein-coding ENSG00000102003 11506 02435 300802;313475 REVIEWED 1348030 SYNRG synergin, gamma This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q12 32697883 32792525 - 32952046 33043559 - 35874900 35969486 - 631945;1580863;6480464 10477754 18815278;16344560;16162817;15758025;15489334;15302935;14702039;12808037;12538641;12477932;22566498;12176391;12042876;10814529;9653655;8889549;10777571;10747088;17506864;12858162;12858163;20972266;23000965;23535730 11276 A8MWU4;K7EMD4;K7EP22;K7ERE7;Q9UMZ2 ABBA01001362;ABBA01001363;AC004099;AC091199;AF169548;AK025335;AK025700;AK091801;AK126988;AK302821;AK308292;AMYH01008361;BC084536;BC090930;BC117313;BC143452;BC143476;BC143478;BG120023;CB053470;CH471199;DB085203;N93929;NM_001163544;NM_001163545;NM_001163546;NM_001163547;NM_007247;NM_080550;NM_198882 AAD49732;AAH90930;AAI17314;AAI43477;AAI43479;BAG64019;EAW57594;EAW57595;EAW57596;EAW57597;EAW57598;NP_001157016;NP_001157017;NP_001157018;NP_001157019;NP_009178;NP_542117;NP_942583;Q9UMZ2 Hs.594647 1652127;1659166;1678871;1699698;1709350;1846562;1855823;2107835;2129760;2138422;2147686;2164529;2186033;5015861;5015961;5017170;5020948;5022322;5022450;5024761;5037552;5109281;5109283;7185938 AP1GBP1_9255;Cda1ec02;D10S16;D10S275;D11S2560;D15S1477;D17S2154;D1S1425;D1S1431;D8S2279;G30589;G35510;L29953;NIB35;RH103454;RH36905;RH45104;RH48320;RH48776;RH93949;SHGC-32328;SHGC-57650;SHGC-81677 AP1GBP1;FLJ34482;MGC104959;SYNG AP1 gamma subunit binding protein 1;AP1 subunit gamma-binding protein 1;OTTHUMP00000164162;OTTHUMP00000164163;OTTHUMP00000217674;OTTHUMP00000217675;adaptor-related protein complex 1 gamma subunit-binding protein 1;gamma-synergin;synergin gamma APPROVED protein-coding ENSG00000006114 557 06291 607291 REVIEWED 1602841 SYS1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009] 20 20 20 q13.12 40700219 40706369 + 43425115 43438852 + 43990577 44005442 + 6480464 16303743;15077113;12477932;11181995;16344560;21906983 90196 E7ETM6;F8WB21;Q5QPU8;Q8N2H4 ABBA01052660;AI041176;AK075264;AK172738;AK309429;AL021578;AL449491;AL591714;AMYH01011937;BC048286;BI820996;CA417429;CH471077;CQ783385;DA526637;H09823;NM_001099791;NM_001197129;NM_033542 AAH48286;ACE86892;ACE87579;BAC11506;CAC39448;CAF86589;EAW75847;EAW75851;EAW75856;EAW75857;NP_001093261;NP_001184058;NP_291020;Q8N2H4 Hs.655055;Hs.733183 1675279;1679299;1772918;1852021;2190969 MARC_12165-12166:1004710367:1;RH18508;RH44476;RH75592;WI-16033 C20orf169;dJ453C12.4;dJ453C12.4.1 OTTHUMP00000031125;OTTHUMP00000031126;OTTHUMP00000031127;OTTHUMP00000031129;OTTHUMP00000210819;protein SYS1 homolog APPROVED protein-coding ENSG00000204070 16162 612979 VALIDATED 1603517 SYPL2 synaptophysin-like 2 1 1 1 p13.3 108278450 108294108 + 109810623 109826287 + 110009100 110024764 + 6480464 16710414;16344560;14702039;12975309;12477932;20125088;20383146;22290180 284612 B4DYR7;Q5VXT5 AB158472;ABBA01068377;AI983207;AK095168;AK131459;AK289513;AK293082;AK301509;AK302566;AL355145;AL356735;AMYH01000930;AMYH01000931;AY358862;BC110407;BC113102;BC113103;CH471122;DA097637;DB071160;DB291596;DN831287;NM_001040709 AAI13103;AAI13104;AAQ89221;BAD18604;BAF82202;BAF85771;BAG63018;BAG63829;BAM08466;EAW56384;EAW56385;NP_001035799;Q5VXT5 Hs.528366 1709834 SHGC-84739 MG29 OTTHUMP00000012638;mitsugumin 29;mitsugumin-29;synaptophysin-like protein 2 protein-coding ENSG00000143028 27638 17478 VALIDATED 1346991 SYPL1 synaptophysin-like 1 7 7 7 q22.3 100536483 100558573 - 105518187 105540293 - 105730814 105753093 - 1580863;6480464 8034131;18720419;17081065;15489334;14702039;12853948;12690205;12477932;10636906;10370136;9847074;8707851;1730063;17207965;21139048;16344560 6856 A4D0R1;A4D0R2;C9JYN0;H7C4J8;Q16563 AA969654;AACC02000004;ABBA01057931;AC005095;AK128279;AK128299;AK292230;AMYH01017821;BC016835;BC020938;BC061887;BE048753;BG719851;BQ429369;CB989012;CH236947;CH471070;DA780897;NM_006754;NM_182715;S72481;X61382;X68194 AAB31344;AAD50513;AAH16835;AAH20938;AAH61887;ACE86648;ACE87330;ADQ32552;BAF84919;CAA48276;EAL24401;EAL24402;EAW83379;EAW83380;EAW83381;NP_006745;NP_874384;Q16563 Hs.80919 1656673;2141753;2165695;5015961;5022450 D10S275;D15S1477;D7S2339;RH17910;STS-H87525 FLJ46439;H-SP1;SYPL OTTHUMP00000212300;OTTHUMP00000212301;OTTHUMP00000212302;pantophysin;synaptophysin-like protein 1 protein-coding ENSG00000008282 11507 15459 VALIDATED 1346254 SYT10 synaptotagmin X 12 12 12 p11.1 13335630 13400035 - 33419615 33484021 - 33528348 33592754 - 6480464 15489334;14756426;12477932;10531343 341359 F5GZB8;F5H2A8;Q6XYQ8 ABBA01031691;ABBA01031692;AC016956;AC023158;AMYH01004378;AY198413;BC101024;BC101025;CH471116;NM_198992 AAI01025;AAI01026;AAP37477;EAW88510;NP_945343;Q6XYQ8 Hs.118703 1673679;1725877;1771262;1846968;2106679 D12S1472;D12S1475;G62396;RH45399;SYT10__5370 MGC119436;MGC119437 OTTHUMP00000240621;synaptotagmin 10;synaptotagmin-10;sytX protein-coding 19266 15460 VALIDATED 735243 SYT13 synaptotagmin XIII This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 11 p12-p11 45409536 45455569 - 45218429 45264383 - 45261853 45307884 - 6480464 15489334;11256614;18202767;16381901;15489336;15342556;12477932;11543631;11230166;11171101;11076863;10718198;20379614;20840848;8889549;22632162 57586 H0YD47;H0YE47;Q7L8C5 AB037848;ABBA01060762;AC103681;AC103736;AJ303362;AK291009;AK308841;AL512743;AMYH01003527;BC093830;BC093832;BP251101;CH471064;NM_001247987;NM_020826;W45345 AAH93830;AAH93832;BAA92665;BAF83698;CAC21669;CAC33884;CAL38161;EAW68043;EAW68044;NP_001234916;NP_065877;Q7L8C5 Hs.436643 1663783;1663785;1737247;2174907 D11S3115;HSC1SF092;RH18313;WI-14707 KIAA1427 OTTHUMP00000233113;synaptotagmin 13;synaptotagmin-13;sytXIII APPROVED protein-coding ENSG00000019505 14962 12128 607716 REVIEWED 737534 SYT12 synaptotagmin XII This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010] 11 11 11 q13.2 64118713 64146930 + 66547467 66574906 + 66790190 66818334 + 1580863;6480464 15489334;14702039;12477932;11543631;16344560;17190793;21926972 91683 B0AZL9;E9PNM5;Q8IV01;Q8NDM9 ABBA01024050;ABBA01024051;ABBA01024052;AK024280;AK289672;AK289727;AK315810;AL833834;AMYH01003738;AMYH01003739;AP000729;AP003176;BC037406;CH471076;DA239473;NM_001177880;NM_177963 AAH37406;ABM83399;ABM86611;BAF82361;BAF82416;BAF98701;CAD38694;EAW74576;NP_001171351;NP_808878;Q8IV01 Hs.287636 2145053 SGC32272 SRG1;SYT11;sytXII OTTHUMP00000235162;OTTHUMP00000235163;synaptotagmin-12;synaptotagmin-XII APPROVED protein-coding 18381 07337 606436 REVIEWED 1343002 SYT11 synaptotagmin XI This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010] 1 1 1 q21.2 128902166 128927893 + 154095924 154121470 + 155829260 155854990 + 1580863;6480464 19156168;17192956;16344560;16303743;16189514;15489334;15354386;14702039;12925569;12477932;11543631;10734137;7584044;19060904;21292315;21139048;22645275 23208 B4DK40;Q9BT88 AA824539;ABBA01016682;AK026178;AK027540;AK074931;AK296378;AL139128;AMYH01001432;AU130124;BC004291;BC013690;BC039205;BM801649;CA419920;CH471121;CR749792;D38522;DA026743;DA239014;NM_152280 AAH04291;AAH13690;AAH39205;BAA07527;BAB55186;BAC11300;BAG59052;CAH18653;EAW53025;EAW53026;NP_689493;Q9BT88 Hs.32984 1655192;1735360;1735672;1764755;1775384;2163874;2165276;5014063;5015881;5121275 A002N39;D15S1390;D1S1849E;D7S2133E;GDB:335751;IB1251;RH16657;RH25308;RH78173;SHGC-148333 DKFZp781D015;KIAA0080;MGC10881;MGC17226;SYT12;sytXI OTTHUMP00000015934;synaptotagmin 12;synaptotagmin-11 APPROVED protein-coding ENSG00000132718 19239 12289 608741 REVIEWED 1345341 SYT14 synaptotagmin XIV This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011] 1 1 1 q32.2 183335212 183561024 + 208178161 208404259 + 210111519 210337636 + 1580863;6480464 17304550;16710414;15238157;14702039;12801916;12477932;20379614;21835308;22527681 255928 A1L3Y1;F5H1A2;Q707N6 AB102948;ABBA01048207;ABBA01048208;ABBA01048209;AJ617623;AJ617624;AJ617625;AJ617626;AJ617627;AK091517;AL022397;AL022399;AL513263;AMYH01001696;BC130323;BC144154;BC144155;BC144157;CH471100;NG_031962;NM_001146261;NM_001146262;NM_001146264;NM_001256006;NM_153262;NR_027459 AAI30324;ADR83228;BAC03682;BAC76809;CAE85109;CAE85110;CAE85111;CAE85112;CAE85113;CAI17884;CAI17885;CAI17886;EAW93434;EAW93435;NP_001139733;NP_001139734;NP_001139736;NP_001242935;NP_694994;Q8NB59 Hs.658866 1339667;1647602;1650266;1670387;1693090;1697312;2121096;5015087;5110301;7183767 AL009619;AL009780;AL009797;AL034255;D1S205;RH102153;SHGC-152644;SHGC-31163;yAS8L FLJ34198;MGC163195;SCAR11;sytXIV OTTHUMP00000034817;OTTHUMP00000034819;OTTHUMP00000035026;synaptotagmin-14 APPROVED protein-coding ENSG00000143469 23143 11617 610949;614229 REVIEWED 1604910 SYT14L synaptotagmin XIV-like 4 4 4 q13.2 66388633 66391320 - 68608907 68611610 - 68926328 68929015 - 6480464 16376304;15238157;14702039;12477932;11543631 401135 Q58G82 ABBA01022908;AC096727;AJ303368;AMYH01014249;AY954513;BC132697;BC144378;CH471057;CR740599;NR_027094 AAX40990;CAC33890;EAX05567;Q58G82 Hs.130270;Hs.712109 2121096;5037746 D1S3696;SHGC-31163 CHR415SYT;SYTDEP pseudo 33429 18501 610892 VALIDATED 736944 SYT1 synaptotagmin I The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] 12 12 cen-q21 78135414 78368974 + 79257773 79845788 + 1580863;6480464;7204679;2311146 15534041;11751925 14709554;15082773;11438518;1840599;2446925;19234085;19186144;18937294;17956130;17307723;16344560;15603740;15489334;15466855;14702039;12477932;12135982;12089155;11454741;11438523;11438520;11432880;11381094;11243866;11242035;11181737;10734137;10692432;10397765;9712836;9303303;9010211;8999968;8901523;8889548;8769138;8087843;7798952;7624059;7553862;1326322;12062043;16169070;16143103;16525042;18779938;19234194;19284995;19557857;19835837;19926819;20222955;20379614;8071310;20098747;12750892;22853901;22966849;15467731;15919756;19953087;21139048;21906983;22360420;22475172;22705946;22890573;19523119;23071627;23251661;23341457 6857 C9JX50;F8VP93;F8VXH0;F8VYH8;F8VZY3;F8W1U9;H0YIH4;J3KQA0;P21579 ABBA01053507;ABBA01053508;ABBA01053509;ABBA01053510;ABBA01053511;ABBA01053512;ABBA01053513;ABBA01053514;ABBA01053515;ABBA01053516;AC027288;AC073570;AC073572;AC073606;AC073616;AC078917;AC090709;AK094616;AK126908;AK308743;AMYH01004608;AMYH01004609;AMYH01004610;BC041373;BC051915;BC058917;BM668697;BX647240;CH471054;CR627387;CS667539;DA174824;M55047;NM_001135805;NM_001135806;NM_005639;U19921 AAA60609;AAH58917;BAG52897;BAG54392;CAH10483;CAP07393;EAW97343;EAW97344;EAW97345;NP_001129277;NP_001129278;NP_005630;P21579 Hs.310545 1338161;1647506;1649248;1658087;1660637;1664672;1666962;1670426;1673782;1710274;1710636;1711026;1712539;1744019;1749201;1749795;1749821;1769269;1782698;1789172;1796900;1854883;2121219;2125134;2129481;2131318;2154954;2163710;2175365;2177322;2186421 A002S37;D12F314S2;D12S1421;D12S1846;D12S2204;D12S64;D37792;G09678;G31550;G65584;GDB:384848;RH17699;RH44236;RH47304;RH47944;RH78549;SHGC-110880;SHGC-111536;SHGC-111560;SHGC-155197;SHGC-30056;SHGC-31058;SHGC-31415;SHGC-59569;SHGC-84114;SHGC-84895;SHGC-85231;STS-AA040166;SYT1_862;WI-17968;WI-22639 DKFZp781D2042;P65;SVP65;SYT OTTHUMP00000166063;OTTHUMP00000166064;OTTHUMP00000242738;OTTHUMP00000242743;synaptotagmin 1;synaptotagmin-1;sytI APPROVED protein-coding ENSG00000067715 11509 01710 185605 VALIDATED 1346455 SYT16 synaptotagmin XVI 14 14 14 q23.2 42513014 42618887 + 61532294 61638180 + 62462541 62568427 + 737633;6480464 12477932 16946482;15489334;15238157;12801916;11543631;20379614;20707712 83851 B4DZH2;Q17RD7 AB102949;ABBA01018304;ABBA01018305;ABBA01018306;AJ303367;AJ617628;AK302919;AL356018;AL390816;AMYH01005779;BC040924;BC117363;BC143598;CH471061;NM_031914 AAH40924;AAI17364;AAI43599;ADR83098;BAC76810;BAG64084;CAC33889;CAE85114;EAW80812;EAW80813;EAW80814;NP_114120;Q17RD7 Hs.404139 1716025;1783098;1853844;2141113 D14S578;RH120951;SHGC-155175;WI-18435 CHR14SYT;SYT14L;Strep14;syt14r;yt14r OTTHUMP00000245106;chr14 synaptotagmin;synaptotagmin 14-like protein;synaptotagmin XIV-related protein;synaptotagmin-16 protein-coding ENSG00000139973 23142 15461 610950 VALIDATED 734045 SYT17 synaptotagmin XVII 16 16 16 p12.3 18327505 18426429 + 19087139 19186055 + 19179638 19278554 + 6480464 16730941;16713569;16672768;16189514;12477932;12107410;10493829;20379614;21832049;21876473 51760 H3BMD4;H3BN78;H3BQZ6;H3BRH9;H3BSP0;H3BSU5;H3BSX1;Q9BSW7 ABBA01028256;AC003003;AC010494;AF220560;AK098747;AK226136;AK296000;AMYH01007317;AMYH01007318;BC004518;BQ548827;BQ961069;CA389452;CH471186;NM_016524 AAC05436;AAF37825;AAH04518;BAG58774;EAW50273;EAW50274;NP_057608;Q9BSW7 Hs.258326 1689620;1738491;1739877 D16S2687;D16S3007;RH64994 B/K protein;OTTHUMP00000162165;protein B/K;synaptotagmin-17;sytXVII protein-coding 24119 17425 VALIDATED 736926 SYT15 synaptotagmin XV This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 10 10 q11.1 46375450 46390607 - 46955444 46970601 - 6480464 14702039;12788067;11739399;11543631;12477932;16344560;19322201 83849 D6RF99;H3BLX3;Q9BQS2 AA878734;AB109022;AB109023;ABBA01158448;ABBA01204536;AI971263;AJ303363;AK127436;AK128634;AK131036;AK290186;AK293632;AL356056;AMYH01002427;BC139914;BG402134;CH471083;DB158555;NM_031912;NM_181519 AAI39915;BAC76817;BAC76818;BAC85479;BAC86979;BAF82875;BAG57088;CAC33885;EAW54662;NP_114118;NP_852660;Q9BQS2 Hs.696346 1679469;1698412;2132809;5015619;5015881;5037552;5118444 D11S3114;D11S3316;D8S2279;GDB:335751;RH102748;RH79784;SHGC-36518 CHR10SYT;sytXV OTTHUMP00000058992;OTTHUMP00000221137;OTTHUMP00000221138;chr10 synaptotagmin;synaptotagmin XV-a;synaptotagmin-15 APPROVED protein-coding ENSG00000204176 17167 12161 608081 REVIEWED 68582 SYT4 synaptotagmin IV 18 18 18 q12.3 37656042 37665799 - 39101855 39111342 - 40847857 40857615 - 730127;1580863;6480464;7204679 8872307;15534041 8901523;19156168;16189514;15489334;12477932;10938284;10734137;10718198;10397765;8058779;7993622;21738487;21315262 6860 B4DEU3;M0QZF3;M0R2I0;Q9H2B2 AB037763;ABBA01022356;AC091039;AF299075;AI912792;AK291154;AK293791;AK297275;AK297379;AK299593;AK299652;AK311335;AMYH01008959;BC036538;BM311221;CH471088;DB483932;NM_020783 AAG37229;AAH36538;ABW03669;BAA92580;BAF83843;BAG57204;BAG59747;BAG59821;BAG61525;BAG61571;EAX01433;EAX01434;NP_065834;Q9H2B2 Hs.8059 1770303;1770540;2149948 HSC1XA022;RH12546;SGC36952 HsT1192;KIAA1342 OTTHUMP00000163444;synaptotagmin 4;synaptotagmin-4;sytIV protein-coding ENSG00000132872 11512 02519 600103 VALIDATED 736653 SYT3 synaptotagmin III 19 19 19 q13.33 48176610 48194391 - 55817046 55833114 - 51125234 51143092 - 1580863;6480464 11256614;16381901;15489336;15489334;12477932;11543631;11230166;11076863;10734137;10692432;10531343;8889548;7791877;7749232 84258 M0QY70;M0QYH4;Q9BQG1 ABBA01068310;AC008743;AL136594;AMYH01009941;AMYH01009942;BC028379;BC031067;BI912995;BM688060;BM710834;CH471135;NM_001160328;NM_001160329;NM_032298 AAH28379;AAH31067;ABM82177;ABM85363;CAB66529;CAL38399;EAW71887;EAW71888;EAW71889;EAW71890;EAW71891;NP_001153800;NP_001153801;NP_115674;Q9BQG1 Hs.515554 DKFZp761O132;SytIII synaptotagmin 3;synaptotagmin-3 protein-coding ENSG00000213023 11511 08977 600327 VALIDATED 735278 SYT2 synaptotagmin II Synaptotagmins, like SYT2, are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (Hilbush and Morgan, 1994 [PubMed 8058779]).[supplied by OMIM, Mar 2008] 1 1 q32.1 200831511 200946168 - 202559724 202679551 - 1580863;6480464 19234194;2446925;19234085;18639519;16344560;15489334;15350218;14709554;14702039;12477932;12063179;11696368;11381094;10952998;10734137;10330444;8901523;8058779;7961887;7749232;19709630;18029348;17500595;22454523;21139048;22265973 127833 Q8N9I0 ABBA01027497;ABBA01027498;ABBA01027499;ABBA01027500;AC104463;AC118556;AK090672;AK094430;AK124510;AMYH01001650;AMYH01001651;BC100814;BC100815;BC100816;BC100817;CH471067;DA098279;NM_001136504;NM_177402 AAI00815;AAI00816;AAI00817;AAI00818;BAC03500;BAC04354;EAW91429;EAW91430;NP_001129976;NP_796376;Q8N9I0 Hs.25422 1337558;1338060;1339836;1671675;1774231;2106681;2124071;2130769;2177771;2179093;2179503 A002T08;A008L47;AL009837;D1S1724;D1S1804E;D1S2654;D1S2655;D1S2686;D1S3420;NIB1035;SYT2__5372 FLJ42519;SytII OTTHUMP00000038803;OTTHUMP00000038804;synaptotagmin 2;synaptotagmin-2 APPROVED protein-coding ENSG00000143858 11510 02520 600104 VALIDATED 736086 SYT7 synaptotagmin VII This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q12-q13.1 58618148 58683697 - 61039361 61104874 - 61281188 61348344 - 1580863;2311143;2311148;6480464;7204679 17709608;18713958;15534041 12477932;12071850;11342594;10734137;10613842;10556508;9615227;8901523;8889548;7791877;19913121;20628086;22966849;21266332 9066 F5GX00;F5GZC2;F5H126;F5H1N2;F5H6C1;F5H8G7;O43581 ABBA01003201;ABBA01003202;AF038535;AK294636;AL137559;AMYH01003679;AP002754;AP003108;AP003559;BC042495;BC125170;BC125171;BE644642;BM675410;BM679451;BQ447018;CH471076;NM_001252065;NM_004200;Y19237;Y19238;Y19239;Y19240 AAB92667;AAI25171;BAG57815;EAW73953;EAW73954;EAW73955;EAW73956;EAW73957;NP_001238994;NP_004191;O43581 Hs.131188;Hs.684589 1644465;1648819;1737169;2108553;2111354;2115161;2154361;5014896 A007K14;D11S2224E;D11S2270E;D11S3034;D11S4425;RH47105;STS-R71085;SYT7_8889 IPCA-7;IPCA7;MGC150517;PCANAP7;SYT-VII;SYTVII OTTHUMP00000238266;OTTHUMP00000238267;OTTHUMP00000238270;OTTHUMP00000238271;OTTHUMP00000238272;OTTHUMP00000238273;prostate cancer associated protein 7;prostate cancer-associated protein 7;synaptotagmin 7;synaptotagmin-7;sytVII APPROVED protein-coding 11514 11965 604146 REVIEWED 731962 SYT5 synaptotagmin V Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011] 19 19 19 q 52725663 52732913 - 60376281 60383532 - 55684469 55691720 - 1580863;6480464 7597049;20471030;9177789;18029348;16344560;15820774;15489334;14702039;12477932;10734137;10556508;10531343;8901523;16169070;21900206;22102235 6861 B7Z300;K7EJ95;K7EJC4;K7EJS7;K7EQ59;M0QYJ7;O00445 ABBA01068119;AC010327;AK125182;AK295337;AK313067;AMYH01009985;BC029962;BC033683;BC046157;BQ417474;CH471135;DA529870;DQ090951;NM_003180;X96783;Y19236 AAH33683;AAH46157;AAY99640;BAG54160;BAH12036;CAA65579;EAW72345;EAW72346;EAW72347;NP_003171;O00445 Hs.631566 1774567;2136923;2154822 D19S1081;RH18176;STS-D15049 synaptotagmin 5;synaptotagmin-5;sytV APPROVED protein-coding 11513 02870 600782 VALIDATED 737166 SYT6 synaptotagmin VI The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 1 p13.2 112861141 112925712 - 114433437 114497995 - 114631914 114696472 - 6480464 18639284;16710414;16111671;14702039;12477932;11543631;11437455;8901523;7791877;10531343;17207965;20551332;21832049;16344560;23251661;23319801 148281 B1AMB6;B1AMB7;I6L9C3;Q5T7P8 ABBA01068459;ABBA01068460;AK056448;AK096744;AL162594;AMYH01000964;BC044948;BX431128;CH471122;DA306591;N50928;NM_001270805;NM_205848 AAH44948;ADQ33072;BAG51713;EAW56596;EAW56597;EAW56598;NP_001257734;NP_995320;Q5T7P8 Hs.370963;Hs.736999 1675293;1694844;1763717;1765587;2119279;2135060;2160843 Cda16g01;G43675;SHGC-147387;SHGC-149045;SHGC-75349;SHGC-75351;WI-14735 sytVI OTTHUMP00000013503;OTTHUMP00000013504;OTTHUMP00000195668;synaptotagmin-6;sytVI APPROVED protein-coding ENSG00000134207 18638 09654 607718 REVIEWED 1347431 SYT8 synaptotagmin VIII Synaptotagmins, such as SYT8, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains. Some synaptotagmins are involved in synaptic membrane fusion, while others have a more general function in endocytosis. For further information on synaptotagmins, see MIM 185605.[supplied by OMIM, May 2003] 11 11 11 p15.5 1893432 1896508 + 1812250 1815326 + 1855674 1858750 + 61762;1580863;6480464 7791877 14702039;12477932;10734137;19913121;20628086;20379614;21336277 90019 A6NCR4;C9J253;C9JSK3;C9K032;F5H5K8;F8WBL4;H0Y3G9;Q8NBV8 ABBA01012161;AC051649;AK075202;AK131292;AK293395;AL137708;AMYH01003315;AY353087;BC038591;BC144657;BC144659;BC144660;BC144661;BX396540;CH471158;CQ783293;NG_011621;NM_138567 AAI60127;AAQ57209;BAC11467;BAD18463;BAG56904;CAB70885;CAF86504;EAX02465;EAX02466;NP_612634;Q8NBV8 Hs.161031 1807364;1808254;1809404;1813106;1836006;1840590;2089266;2089268;2089276;2089278;2089280;2089282;2089284;2089286;2089288;2089290;2089292;2089294;2089296;2089298;2089300;2089302;2089304;2089306;2089308;2089310;2089312;2089314;2216436;2216438 ECD04653;ECD05108;ECD05694;ECD07572;ECD19164;ECD21485;REN115895;REN115896;REN115900;REN115901;REN115902;REN115903;REN115904;REN115905;REN115906;REN115907;REN115908;REN115909;REN115910;REN115911;REN115912;REN115913;REN115914;REN115915;REN115916;REN115917;REN115918;REN115919;stSG548512;stSG548513 DKFZp434K0322 OTTHUMP00000010578;OTTHUMP00000011603;OTTHUMP00000069337;synaptotagmin 8;synaptotagmin-8;sytVIII APPROVED protein-coding ENSG00000149043 19264 09655 607719 VALIDATED 1354462 SYT9 synaptotagmin IX 11 11 11 p15.4 7392278 7609358 + 7229757 7446849 + 7273181 7490276 + 1580863;2311148;2311147;6480464;2311146 18713958;16165130;11751925 10734137;15489334;15066994;14702039;12966166;12477932;12062430;12062043;11543631;8901523;20379614;22359512;23382691 143425 B3KNT7;E9PDN4;H0YCQ9;Q86SS6 ABBA01028679;ABBA01028680;AC027804;AC060799;AC107884;AK055003;AK055929;AK127795;AK315013;AL137512;AMYH01003369;AMYH01003370;BC029605;BC046367;CH471064;NM_175733 AAH29605;AAH46367;BAG37505;BAG51449;EAW68659;NP_783860;Q86SS6 Hs.177193 1337036;1711920;1711922;1728223;1731281;1737655;1764325;1858253;2157997;2164443;2180584;5037552;5118576;7184032 A005E31;A006P43;D11S1331;D11S3263;D11S3430;D11S690;D8S2279;G17607;G49571;G49572;G63534;RH12015;SHGC-147933 FLJ45896 OTTHUMP00000229976;synaptotagmin-9;sytIX protein-coding ENSG00000170743 19265 11618 613528 VALIDATED 736279 SYTL5 synaptotagmin-like 5 The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X p21.1 42003495 42125714 + 37778087 37870927 + 37865835 37988073 + 1580863;6480464 16630545;12477932;12051743;12590134;20932654;23568457 94122 Q8TDW5 AB080222;ABBA01047054;ABBA01047055;ABBA01047056;ABBA01047057;ABBA01047058;ABBA01047059;ABBA01047060;ABBA01047061;ABBA01047062;ABBA01047063;ABBA01047064;ABBA01047065;ABBA01047066;ABBA01047067;AK125106;AL121578;AL135038;AMYH01022211;BC131585;BX647688;CH471141;NG_013265;NM_001163334;NM_001163335;NM_138780 AAI31586;BAB88906;EAW59448;EAW59449;EAW59450;NP_001156806;NP_001156807;NP_620135;Q8TDW5 Hs.662334 1676330;1702140;2112164;5023077 DXS1349;DXS9819;RH98374;ha3038 slp5 OTTHUMP00000031916;exophilin 9;synaptotagmin 15;synaptotagmin-like protein 5 APPROVED protein-coding ENSG00000147041 15589 06736 REVIEWED 1352944 SYTL3 synaptotagmin-like 3 The protein encoded by this gene belongs to the family of synaptotagmin-like proteins (SLPs). SLPs are peripheral membrane proteins that interact with RAB27A protein, and play a role in vesicular trafficking. Unlike, SLPs 1 and 2, this protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] 6 6 6 q25.3 159719041 159833917 + 158991034 159105889 + 159071046 159185908 + 6480464 16344560;14702039;12590134;12477932;11773082;11243866;19913121;20628086;21906983 94120 B4E2A9;F8W7H4;Q4VX76 ABBA01021080;ABBA01021081;ABBA01021082;ABBA01021083;ABBA01021084;ABBA01021085;ABBA01021086;ABBA01021087;AI674404;AK055750;AK092729;AK131092;AK298712;AK304191;AL567177;AL589931;AMYH01016791;AMYH01016792;AMYH01016793;BC042966;BC085612;BC100828;BC100829;BC100830;BC100831;CH471051;DB175440;DC394549;NG_029794;NM_001009991;NM_001242384;NM_001242394;NM_001242395 AAH85612;AAI00831;AAI00832;BAC85142;BAG60868;BAG65071;EAW47648;EAW47649;EAW47650;EAW47651;EAW47652;EAW47653;EAW47654;NP_001009991;NP_001229313;NP_001229323;NP_001229324;Q4VX76 Hs.436977;Hs.733155 1648429;1661388;1689755;1717685;1754363;1763771;5024039 D16S325;D6S1975;RH122273;RH46204;SHGC-132381;SHGC-147444;SHGC-2438 MGC105130;MGC118883;MGC118884;MGC118885;SLP3 OTTHUMP00000017505;exophilin-6;synaptotagmin-like protein 3 APPROVED protein-coding ENSG00000164674 15587 15462 REVIEWED 6481416 SZT2-AS1 SZT2 antisense RNA 1 100873952 AL583862 APPROVED miscrna 41225 1321784 SYTL1 synaptotagmin-like 1 1 1 1 p36.11 26065672 26077707 + 27541100 27553008 + 27668483 27680423 + 1580863;6480464 18266782;17200145;16004602;15489334;14702039;12477932;12137562;11773082;11278853;11980908;12590134;11243866;16344560;8889548;19528539;22438581;23082202 84958 Q5SSC6;Q5SSD1;Q8IYJ3 ABBA01034969;ABBA01034970;AK027902;AK074154;AK096437;AK097172;AK126120;AK293038;AL663123;AMYH01000422;AY037157;BC009224;BC015764;BC035725;CB851688;CH471059;DA435960;DA948740;NM_001193308;NM_032872 AAH09224;AAH15764;AAH35725;AAK67636;ABM82143;ABM85326;BAB55444;BAB84980;BAC04970;BAF85727;EAX07759;EAX07760;EAX07761;EAX07762;NP_001180237;NP_116261;Q8IYJ3 Hs.469175 1781822;2186479;5014051;5037552 D8S2278;D8S2279;SHGC-156284;SHGC-74508 FLJ14996;JFC1;SLP1 NADPH oxidase-related, C2 domain-containing protein;OTTHUMP00000006401;exophilin-7;synaptotagmin-like protein 1 protein-coding ENSG00000142765 15584 608042 VALIDATED 1316959 SYTL2 synaptotagmin-like 2 The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009] 11 11 q14 85082912 85146692 - 85405264 85522178 - 1580863;6480464 17182843;18812475;18832576;18266782;17672918;16344560;16303743;15489334;15231748;14702039;12590134;12477932;11773082;11543631;11327731;11243866;10997877;10865129;10737800;8976547;8125298;11980908;17207965;20729199;17643375;18940603;20654157;18029348;19389623;16051665;21223688 54843 E9PIB5;E9PK22;E9PN06;E9PPL3;E9PQL8;E9PRW5;E9PS29;E9PS39;H0YE56;J3KP28;J3KPL9;Q2YDA7 AB046817;ABBA01017335;AJ303364;AK000170;AK024872;AK056722;AK074737;AK092121;AK124754;AK127504;AK131365;AK222707;AK222710;AK296224;AK296740;AK298604;AL601023;AL706957;AL834422;AMYH01003848;AP000642;AP000974;AY386362;BC015540;BC068495;BC110315;BC136450;BC144114;BC144115;BQ308382;BX647671;BX648068;CB046277;CH471076;CQ783637;DA344600;DA378461;DA449325;EU035829;NG_029712;NM_001162951;NM_001162952;NM_001162953;NM_032379;NM_032943;NM_206927;NM_206928;NM_206929;NM_206930 AAH15540;AAI10316;AAI36451;AAI44115;AAI44116;AAR25619;ABV82746;ADQ32299;BAA90989;BAB13423;BAB15030;BAC11170;BAC85937;BAC87010;BAD18516;BAG52485;BAG58947;BAG59325;BAG60788;CAC33886;CAD39083;CAF86787;EAW75107;EAW75108;EAW75109;EAW75110;EAW75111;EAW75112;EAW75113;NP_001156423;NP_001156424;NP_001156425;NP_115755;NP_116561;NP_996810;NP_996811;NP_996812;NP_996813;Q9HCH5 Hs.369520 1686478;1750711;2128941;2159947;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;RH46567;RH47731;SHGC-112195;SHGC-36010 CHR11SYT;EXO4;FLJ21219;FLJ34802;FLJ42764;FLJ45597;KIAA1597;MGC102768;SGA72M;SLP2;SLP2A OTTHUMP00000234607;OTTHUMP00000234608;OTTHUMP00000234609;OTTHUMP00000234611;OTTHUMP00000234612;OTTHUMP00000234613;OTTHUMP00000234614;OTTHUMP00000234615;OTTHUMP00000234616;OTTHUMP00000234617;OTTHUMP00000234618;breast cancer-associated antigen SGA-72M;chromosome 11 synaptotagmin;exophilin-4;synaptotagmin-like protein 2 APPROVED protein-coding ENSG00000137501 15585 10260 612880 REVIEWED 734138 SYTL4 synaptotagmin-like 4 This gene encodes a member of the synaptotagmin like protein family. Members of this family are characterized by an N-terminal Rab27 binding domain and C-terminal tandem C2 domains. The encoded protein binds specific small Rab GTPases and is involved in intracellular membrane trafficking. This protein binds Rab27 and may be involved in inhibiting dense core vesicle exocytosis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Mar 2010] X X X q21.33 100448228 100505895 - 99816144 99873154 - 99929488 99987135 - 1580863;6480464 10497219;17081983;16831872;16344560;16189514;15772651;15563604;15489334;15342556;14702039;12665801;12590134;12477932;12176990;12101244;11956164;11865063;11773082;19615732;19966785;18029348;20360068;23000965;23140275 94121 A8K973;B2R7R4;F8W9B9;Q71SF7;Q96C24 ABBA01064134;ABBA01064135;ABBA01064136;ABBA01064137;ABBA01064138;ABBA01064139;ABBA01064140;ABBA01064141;ABBA01064142;ABBA01064143;AF302493;AK098279;AK292588;AK313086;AL391688;AL832596;AMYH01022721;AMYH01022722;BC014913;BP354718;BX537410;CH471115;DB285556;NG_016858;NM_001129896;NM_001174068;NM_080737;Z73900 AAH14913;AAQ14492;BAF85277;BAG35911;BAG53606;CAD97652;CAI42004;CAI42005;CAI46126;EAX02813;EAX02814;EAX02815;NP_001123368;NP_001167539;NP_542775;Q96C24 Hs.592224 1848145 DXS9763 DKFZp451P0116;FLJ40960;SLP4 OTTHUMP00000023654;OTTHUMP00000023655;exophilin-2;granuphilin-a;synaptotagmin-like protein 4 APPROVED protein-coding ENSG00000102362 15588 06735 300723 REVIEWED 1603603 SYVN1 synovial apoptosis inhibitor 1, synoviolin This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011] 11 11 q13 64651327 64658579 - 64894751 64902003 - 6480464;6907045 16751776;12459480;18029348;19443960;19116932;18664523;18502753;18344614;18314878;18264092;18235538;17967421;17582219;17170702;17141218;17059562;16847254;16802346;16786162;16713569;16289116;16186510;16186509;15489334;14593114;12975321;12646171;12477932;11347906;11256614;18369366;19164805;17157811;17872946;19828134;19835843;19864457;20237263;20606367;19690564;20519503;21149444;17502376;21245296;23097496;23233672;21454652;17451556;20160352;21832065;16822850;21139048;21906983;20947508;21343306;21903092;21987572;22280354;19135427;20414249;21062743;21357747;21949850;18711132;21199683;21857022;22119785;22493164;15572843;23129766 84447 E9PK19;E9PMA1;E9PN88;H0YCR6;Q86TM6 AA864844;AB058713;AB085847;ABBA01024134;ABBA01024135;AF317634;AK074148;AK126912;AL834262;AMYH01003716;AP003068;BC013860;BC030530;BC035473;CH471076;DQ574657;NG_029713;NM_032431;NM_172230 AAH30530;AAI41663;AAL26903;ABW03387;ABW03727;ABZ92145;BAB47439;BAB84974;BAC24801;BAG54394;CAD38937;EAW74357;EAW74358;EAW74359;EAW74360;EAW74361;EAW74362;NP_115807;NP_757385;Q86TM6 Hs.743969 1690588;2176473;2178211;2184180 RH18051;RH36465;RH70124;RH70269 DER3;HRD1;KIAA1810;MGC40372 E3 ubiquitin-protein ligase synoviolin;HMG-coA reductase degradation 1 homolog;OTTHUMP00000230429;OTTHUMP00000230430;OTTHUMP00000230431;OTTHUMP00000230432 APPROVED protein-coding ENSG00000162298 20738 07618 608046 REVIEWED 1605473 TAAR4P trace amine associated receptor 4, pseudogene 6 6 6 q23.2 133662364 133663414 - 132957123 132958371 - 132915528 132916578 - 19325074;18085818;16878137;15718104;9473609;20210993 503612 ABBA01025878;AL513524;AMYH01016676;NG_004855;U88828 APPROVED pseudo 31924 INFERRED 1607050 SZRD1 SUZ RNA binding domain containing 1 1 1 1 p36.13 15173509 15204567 + 16566307 16595451 + 16693583 16724640 + 6480464 12761501;12477932;17207965;14702039;22863883;21139048;19322201 26099 C9K0U0;F8WDF4;F8WEE8;Q7Z422 AB097042;AB097043;AB097044;AB097045;AB097046;ABBA01004670;ABBA01004671;AJ295987;AK098272;AK297926;AK298576;AK308787;AK316205;AL050028;AL358794;AL832937;AMYH01000281;BC010631;BC023988;BC065538;BX640985;CH471167;DA010145;DA438597;DB501645;DC320437;NM_001114600;NM_001271869;NM_015609;NR_073500;NR_073501;NR_073502;NR_073503 AAH23988;AAH65538;ADQ33109;BAC77395;BAC77396;BAC77397;BAC77398;BAC77399;BAG60243;BAG60768;BAH14576;CAB43245;CAC82500;EAW51777;NP_001108072;NP_001258798;NP_056424;Q7Z422 Hs.252967 1655638;1732976;2142334;2157520;2187030;5113242;5113549;5124669 D1S1357;RH41831;RH66504;RH70040;RH80502;SHGC-74280;SHGC-74284;STS-N57662 C1orf144;DKFZp566C0424;MGC70432 OTTHUMP00000002235;OTTHUMP00000215503;OTTHUMP00000215504;OTTHUMP00000215505;SUZ domain-containing protein 1;UPF0485 protein C1orf144;putative MAPK activating protein PM20,PM21;putative MAPK-activating protein PM18/PM20/PM22 APPROVED protein-coding ENSG00000055070 30232 13213 VALIDATED 1320869 T T, brachyury homolog (mouse) The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 q27 166491076 166502121 - 166571144 166582157 - 1580863;6480464;7240710 18466071;11897834;22833560;8963900;18820665;18301055;17273972;14574404;12477932;12000749;10768863;8733136;1516477;20670140;20602751;18593560;19801981;21102418;20855213;21171078;22847733;22548442;21397407;21220197;22589738;22007675;21365650;21478681;21816365;22164283;22446946;22538805;23076115 6862 H0YM91;J3KP65;O15178 ABBA01015077;AJ001699;AL627443;AMYH01016846;BC039877;BC098425;BE785653;BG436736;BU190437;CH471051;HI638829;NG_012135;NM_001270484;NM_003181 AAH98425;CAA04938;CBX55887;EAW47538;EAW47539;NP_001257413;NP_003172;O15178 Hs.389457;Hs.742027 1797016 T_864 MGC104817;TFT OTTHUMP00000017588;T brachyury homolog;T brachyury-like;brachyury protein;protein T APPROVED protein-coding ENSG00000164458 11515 03236 182940;601397 REVIEWED 1605474 TAAR7P trace amine associated receptor 7, pseudogene 6 6 6 q23.2 133627000 133627209 + 132921856 132922065 + 132880163 132880372 + 16878137;15718104;16584120 503611 ABBA01025878;AL513524;AMYH01016676;AY803193;NG_004854 APPROVED pseudo 31925 INFERRED 1343570 TAAR3 trace amine associated receptor 3 (gene/pseudogene) 6 6 6 q23-q24 133676200 133677277 - 132971034 132972147 - 132929364 132930441 - 632893;1580863;6480464 10684976 16878137;15718104;12477932;14559210;15891052;18240029;19325074;20210993 9288 Q9P1P4 ABBA01025878;AF112461;AF112462;AL513524;AMYH01016676;AY702305;BC095548;NR_028511 AAF27279;Q9P1P4 Hs.730091 1747889 G66864 GPR57;GPR58;TAAR2 g protein-coupled receptor 57 pseudo ENSG00000179073 4513 VALIDATED 1346236 TAAR1 trace amine associated receptor 1 TAAR1 is a G protein-coupled receptor activated by trace amines. Trace amines are endogenous amine compounds that account for less than 1% of the biogenic amines in most brain regions (Bunzow et al., 2001 [PubMed 11723224]).[supplied by OMIM, Mar 2008] 6 6 6 q23.2 133712961 133713980 - 133007816 133008835 - 132966123 132967142 - 634071;1580863;6480464 11459929 22079347;17900709;16878137;15718104;15489334;14574404;12477932;11723224;18240029;18602830;19892733;21073468;18577758;12036966;21670104;22114263;22038157;23315425 134864 Q96RJ0 ABBA01025878;AF200627;AF380185;AL513524;AMYH01016676;AY180374;BC101825;BC112194;CH471051;NM_138327 AAG17112;AAI01826;AAI12195;AAK71236;AAO22154;EAW48021;NP_612200;Q96RJ0 Hs.375030 1794774;5492875 PMC55357P1;UniSTS:483092 MGC126874;MGC138399;RP11-295F4.9;TA1;TAR1;TRAR1 OTTHUMP00000017224;taR-1;trace amine receptor 1;trace amine-associated receptor 1 APPROVED protein-coding ENSG00000146399 17734 18142 609333 PROVISIONAL 1603692 SZT2 seizure threshold 2 homolog (mouse) The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011] 1 1 1 p34.2 42170952 42200501 + 43661384 43690891 + 43855556 43919918 + 6480464 16710414;15489334;14702039;12477932;11181995;9455484;15028280;10737800;21139048;16712842 23334 E2QRB6;Q6ZT24 AB007936;ABBA01050956;AK001249;AK027078;AK091821;AK126972;AK131107;AL117402;AL139289;AL583862;AMYH01000557;AMYH01000558;BC017576;BC041069;BC051343;BC052802;BC082968;BC151232;BF826848;BF926328;BF927604;BU101724;BU633294;BX423490;CH471059;DY655545;NG_029091;NM_015284 AAH17576;AAH41069;AAH52802;AAH82968;AAI51233;BAA32312;BAB15649;BAC03755;BAC85157;BAC86771;CAB55903;EAX07095;EAX07096;EAX07097;EAX07098;NP_056099;Q5T011 Hs.643560 1688024;1696948;1699640;5019068;5020948 G35510;G44325;RH101946;RH103424;RH80143 C1orf84;FLJ00408;FLJ10387;FLJ23425;FLJ34502;KIAA0467;RP11-506B15.1;RP11-506B15.3;SZT2A;SZT2B OTTHUMP00000008576;OTTHUMP00000008577;OTTHUMP00000008578;hypothetical protein LOC23334;protein SZT2;seizure threshold 2 homolog A;seizure threshold 2 homolog B;seizure threshold 2 protein homolog APPROVED protein-coding ENSG00000198198 29040 11085 REVIEWED 1606827 TAAR2 trace amine associated receptor 2 6 6 6 q24 133685125 133692251 - 132979982 132987107 - 132938289 132945414 - 10684976;16878137;15718104;15489334;14574404;12477932;18240029;23315425 9287 Q9P1P5 ABBA01025878;AF112460;AL513524;AMYH01016676;AY702304;AY703480;BC067461;BC067462;BC067463;CH471051;DN693314;E13892;NM_001033080;NM_014626 AAF27278;AAH67461;AAH67462;AAH67463;AAI40325;AAI48689;AAV70122;AAV70150;EAW48024;NP_001028252;NP_055441;Q9P1P5 Hs.272382 GPR58 G protein-coupled receptor 58;G-protein coupled receptor 58;OTTHUMP00000017225;OTTHUMP00000233722;taR-2;trace amine receptor 2;trace amine-associated receptor 2 protein-coding ENSG00000146378 4514 06887 604849 VALIDATED 1603706 TAAR5 trace amine associated receptor 5 6 6 6 q23 133656568 133657714 - 132951505 132952518 - 132909731 132910877 - 6480464 9464258;16878137;15718104;15489334;14574404;12477932;18240029;20559446 9038 O14804 ABBA01025878;AF021818;AL513524;AMYH01016676;AY702306;BC069171;BC095541;BC112209;BC112211;CH471051;FJ372547;NM_003967 AAC39581;AAH69171;AAH95541;AAI12210;AAI12212;AAV70123;ACP18682;EAW48025;NP_003958;O14804 Hs.248198 1706920;2219526;5492515;5493287 PNR__5739;SHGC-80949;UniSTS:481448;UniSTS:485606 MGC138414;MGC138416;PNR;RP11-295F4.5 OTTHUMP00000017223;hTaar5;putative neurotransmitter receptor;taR-5;trace amine receptor 5;trace amine-associated receptor 5 protein-coding ENSG00000135569 30236 08459 607405 VALIDATED 6481398 TAB3-AS2 TAB3 antisense RNA 2 100873926 AC108359 APPROVED miscrna 40013 1348964 TAAR6 trace amine associated receptor 6 This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010] 6 6 q23.2 132933154 132934191 + 132891461 132892498 + 634071;1580863;6480464 11459929 15718104;19345712;18978678;18973992;18628684;18583103;18198266;17957234;17895926;17505468;17097106;16878137;16189505;16075187;15489334;15329799;14574404;12477932;9674972;9226366;18240029;19643584;19766166;20493543;19582769;22318606 319100 Q96RI8 ABBA01025878;AF380192;AL513524;AMYH01016676;AY183470;BC069157;CH471051;NG_016544;NM_175067 AAH69157;AAK71243;AAO24661;EAW48026;NP_778237;Q96RI8 Hs.434196 1298296;1298306;1858676;1858678;1858680;1858682;2107707;5492269;5492525 D6S1009;D6S1056;TA4-seq2-SNP1;TA4-seq3-SNP2;TA4-seq4-SNP1;TA4-seq5-SNP3;TRAR4__5131;Taar6;UniSTS:481477 RP11-295F4.3;SCZD5;TA4;TAR4;TAR6;TRAR4;taR-4;taR-6 OTTHUMP00000017222;taR-4;taR-6;trace amine receptor 4;trace amine receptor 6;trace amine-associated receptor 6 APPROVED protein-coding ENSG00000146383 20978 16404 608923 REVIEWED 1345308 TAAR8 trace amine associated receptor 8 6 6 6 q23.2 133620669 133621697 + 132915525 132916553 + 132873832 132874860 + 634071;1580863;6480464 11459929 15489334;15718104;16878137;14574404;12477932;11574155;16584120;18240029 83551 Q969N4 ABBA01025878;AF380193;AF411116;AL513524;AMYH01016676;AY183468;BC069166;CH471051;NM_053278 AAH69166;AAK71244;AAL26487;AAO24659;EAW48027;NP_444508;Q969N4 Hs.350571 5492493 UniSTS:481294 GPR102;TA5;TAR5;TRAR5;TaR-5;TaR-8 G protein-coupled receptor 102;G-protein coupled receptor 102;OTTHUMP00000017226;trace amine receptor 5;trace amine receptor 8;trace amine-associated receptor 8 APPROVED protein-coding ENSG00000146385 14964 09496 606927 PROVISIONAL 2974954 TAB3P1 TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1 Y Y Y q11.221 2246136 2299462 - 13772746 13826255 - 15263451 15316760 - 643199 ABBA01065558;ABBA01065559;ABBA01065560;ABBA01065561;ABBA01065562;ABBA01065563;ABBA01065564;ABBA01065565;AC005820;NG_005581 1781344;1781352;1781354;1781356;1781358;1781360;1781362;1790453;2113538;2189793;2190289;2190291;2190293;2190295;2190297 12f2;AZFa-dist2;AZFa-dist3;AZFa-dist4;AZFa-dist5;AZFa-dist6;DYS447A22;G64725;G64729;G64730;G64731;G64732;G64733;G64861;L16 pseudo 37723 INFERRED 1352345 TAAR9 trace amine associated receptor 9 (gene/pseudogene) TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005] 6 6 6 q23.2 133606264 133607312 + 132901120 132902168 + 132859427 132860475 + 1580863;6480464 15718104;16878137;14559210;12477932;11459929;18240029;20006992 134860 Q96RI9 ABBA01025878;AF380189;AL513524;AMYH01016676;AY183469;BC069083;CH471051;NM_175057 AAI60069;AAK71240;AAO24660;EAW48028;NP_778227;Q96RI9 Hs.434116 5492523;5493077 UniSTS:481470;UniSTS:484171 TA3;TAR3;TAR9;TRAR3 OTTHUMP00000206472;trace amine receptor 3;trace amine receptor 9;trace amine-associated receptor 9 APPROVED protein-coding ENSG00000237110 20977 16308 608282 REVIEWED 1314707 TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 22 22 q13.1 38125705 38163078 + 39795759 39833132 + 1580863;5490218;5490215;5685016;6480464;6484113;6907045 18535784;20086235;20940366 10882101;11460167;12048196;19112497;19578758;8638164;9162092;9744859;10066798;12609980;18456659;18316610;16879102;16648477;15590691;15489334;15324660;14743216;14670075;12829618;12598905;12482967;12477932;12429732;12372426;11847341;11737269;11518704;11323434;10838074;10702308;10591208;10187861;12242293;17626013;22167179;22307082;10094049;9878061;9663660;12589052;12975377;19710015;20448286;20570966;20538596;15276183;21102463;20805296;21159881;21399635;20005846;23022380;19167051;18079694;19026643;21900206;21903422;18021073;19393267;20200282;22158122;22525462;22972987;21139048;21890473;22216226;17620599;18286207;21706016;21988832;23000965;23128233;23382691;23524849;16260783;19875381;23221546;11865055;18271526;19232515;19556242;22952844 10454 A8K6K3;Q15750 ABBA01055567;ABBA01055568;AF425640;AI827837;AK291668;AK296314;AK308903;AK312456;AK316004;AMYH01012778;BC038582;BC050554;CH471095;DQ314876;EF036484;NG_029549;NM_006116;NM_153497;U49928;Z83845 AAC12660;AAH50554;AAN32760;ABC40735;ABO65070;BAF84357;BAG35363;BAH12311;BAH14375;EAW60325;EAW60326;EAW60327;EAW60328;EAW60329;EAW60330;EAW60331;NP_006107;NP_705717;Q15750 Hs.507681;Hs.729080 1652611;1653481;1678071;1682155;1698874;1730417;1735060;1735072;2109491;2124824;2150868;2171560 BCD2105;D22S1000E;D22S1007E;D22S1025E;D22S1561;D22S288E;MAP3K7IP1_9114;RH103004;RH11333;RH47637;WI-12558;WI-18691 3'-Tab1;MAP3K7IP1;MGC57664 OTTHUMP00000199134;OTTHUMP00000199135;TAK1-binding protein 1;TGF-beta-activated kinase 1 and MAP3K7-binding protein 1;TGF-beta-activated kinase 1-binding protein 1;mitogen-activated protein kinase kinase kinase 7 interacting protein 1;mitogen-activated protein kinase kinase kinase 7-interacting protein 1;transforming growth factor beta-activated kinase-binding protein 1 APPROVED protein-coding ENSG00000100324 18157 04012 602615 REVIEWED 7205142 TACC1P1 transforming, acidic coiled-coil containing protein 1 pseudogene 1 10 p11.21 37811938 37819410 + 219752 ABBA01033299;AL121927;AMYH01002259;NG_022170 1727623;1781956 G63222;SHGC-141124 pseudo 44974 INFERRED 735700 TAC4 tachykinin 4 (hemokinin) This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q21.33 45270670 45280378 - 47915671 47925379 - 727210;6480464 12383518 19081134;17175032;16931167;15224188;12716968;12477932;11786503;11062498;10737800;20580442;21342363;20929541;21368235;21168392;22554585 255061 D6RAS6;Q86UU9 ABBA01041216;AC027801;AF515828;AF515829;AF515830;AF515831;AF521560;AMYH01008470;AY471574;BC100840;BC100841;BC100842;BC100843;BC111857;BC111858;BD086009;CH471109;NG_029377;NM_001077503;NM_001077504;NM_001077505;NM_001077506;NM_170685 AAI00841;AAI00843;AAI00844;AAN77128;AAP30874;AAP30875;AAP30876;AAP30877;AAS46596;EAW94657;NP_001070971;NP_001070972;NP_001070973;NP_001070974;NP_733786;Q86UU9 Hs.652130 1338158;1662617;1779234 D17S1795;RH70419;SHGC-152919 EK;HK-1;HK1;MGC133009;MGC133010;PPT-C OTTHUMP00000220782;OTTHUMP00000220784;OTTHUMP00000220785;OTTHUMP00000220786;OTTHUMP00000220787;endokinin;hemokinin;preprotachykinin C;preprotachykinin-C;tachykinin 4;tachykinin-4 APPROVED protein-coding ENSG00000176358 16641 09701 607833 REVIEWED 1603527 TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] X X X p21.2 34973775 35018119 - 30755480 30817432 - 30845559 30907511 - 5490218;5685016;6480464;6907045 18535784;20940366 15489334;15327770;14766965;14743216;14702039;14670075;14633987;12477932;16189514;17158449;22660635;10066798;15276183;10882101;12609980;19521662;23286385;19820708;21903422;22081109;22158122;21139048;17449468;18021073;18345001;19927120;17384642;19232515;21512569;21512573;21572451;21575904;21866272;21976705 257397 A6ND79;F6SS63;Q8N5C8 ABBA01072989;ABBA01072990;ABBA01072991;ABBA01072992;ABBA01072993;ABBA01072994;AC108359;AC117405;AK096786;AK297274;AL832071;AMYH01022194;AY331591;AY331592;AY371491;AY437560;BC032526;BU849692;CH471074;NG_012845;NM_152787 AAH32526;AAQ88279;AAQ92938;AAQ92939;AAR06179;BAG59746;CAI46137;EAW99057;EAW99058;EAW99059;NP_690000;Q8N5C8 Hs.188256 1659128;1787322;2220282 AB055321;RH48054;SHGC-153633 MAP3K7IP3;MGC45404;NAP1 NF-kappa-B-activating protein 1;NFkB activating protein 1;OTTHUMP00000023112;TAB-3;TAK1-binding protein 3;TGF-beta-activated kinase 1 and MAP3K7-binding protein 3;TGF-beta-activated kinase 1-binding protein 3;mitogen-activated protein kinase kinase kinase 7 interacting protein 3 APPROVED protein-coding ENSG00000157625 30681 06738 300480 REVIEWED 1319911 TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, thus serves as an adaptor linking MAP3K7 and TRAF6. This protein, TAB1, and MAP3K7 also participate in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. [provided by RefSeq, Jul 2008] 6 6 q25.1 149680756 149774440 + 149639436 149732747 + 1580863;5490218;5490215;5685016;6480464;6484113;6907045 18535784;20086235;20940366 17158449;12761501;9162092;9744859;10066798;12609980;17986383;17903294;17626013;17586463;16755651;16527194;16384851;16251197;15590691;15489334;15327770;15220215;14743216;14670075;14633987;14574404;12477932;12242293;12168954;12150997;12048196;11809792;11518704;11259596;10882101;9872452;8889548;8638164;18299187;16446357;17720800;22660635;19112497;18180283;19150425;15829968;17449468;20948191;20875659;11460167;17047224;19935683;20448286;20493459;15276183;21035162;21048031;21441570;19521662;20005846;22972987;16603398;17043677;18079694;19026643;19675569;19955178;21700681;21903422;21987572;22081109;22158122;21732829;22383897;21139048;22167179;15836773;16311020;17018285;18021073;18345001;19393267;19927120;20200282;22249258;22819327;19373254;21832049;12496252;17384642;15670770;16469706;19232515;19556242;20064081;20194509;20538596;21512569;21512573;21572451;21575904;21866272;21976705;22190034;17948050;19875381;23221546 23118 B4DIR9;Q9NYJ8 AB018276;ABBA01025682;ABBA01025683;ABBA01025684;AF241230;AK025538;AK295750;AK307650;AK315038;AL050180;AL117407;AL138727;AL139103;AMYH01016734;BC035910;BM661637;CH471051;CR457387;DQ314877;NG_021386;NM_015093 AAF67176;AAH35910;ABC40736;BAA34453;BAG37521;BAG58581;CAB55907;CAG33668;EAW47805;EAW47806;EAW47807;NP_055908;Q9NYJ8 Hs.269775 1645227;1650023;1654727;1728139;1739219;2117070;2126422;2126548;2130209;2142256;2165328 D6S1131E;D6S1373;D6S2184;G31017;G63492;RH17819;RH66149;RH68634;STS-AA032206;STS-T59224;WI-20522 CHTD2;FLJ21885;KIAA0733;MAP3K7IP2 OTTHUMP00000017388;TAB-2;TAK1-binding protein 2;TGF-beta-activated kinase 1 and MAP3K7-binding protein 2;TGF-beta-activated kinase 1-binding protein 2;mitogen-activated protein kinase kinase kinase 7-interacting protein 2 APPROVED protein-coding ENSG00000055208 17075 05483 605101;614980 REVIEWED 1353248 TAC3 tachykinin 3 This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded protein is primarily expressed in the central and peripheral nervous system and functions as a neurotransmitter. This protein is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 12 12 q13-q21 55690051 55696592 - 57403781 57410344 - 70033;1580863;2305983;6480464 3479225;2478257 12477932;10866201;19086053;19079066;18614256;18240076;17976896;17561251;17448763;17175032;16709596;15489334;15317475;15123623;14700748;14634580;12975309;12727971;11231038;10189055;8990205;8702757;7961636;1708331;16169070;20580442;15342556;19539370;20074343;20176081;20194706;20332248;20389091;22903610;20017703;18577758;20529119;16754659;17192395;19087492;20800582;20816945;23019350;23011920;22031817;22424618;23314748;22318412 6866 Q7Z4W6;Q9UHF0 ABBA01008447;AC026120;AF186112;AF216586;AF537113;AF537114;AF537115;AF537116;AF537117;AF537118;AF537119;AF537120;AF537121;AM179832;AMYH01004511;AY358679;BC032145;BE500999;BP212420;CH471054;CR457193;NG_021398;NM_001178054;NM_013251;NR_033654 AAF01430;AAF76980;AAH32145;AAQ10783;AAQ10784;AAQ10785;AAQ10786;AAQ10787;AAQ10788;AAQ10789;AAQ10790;AAQ10791;AAQ89042;ABM83185;ABM86387;CAG33474;CAJ47374;EAW96972;EAW96973;EAW96974;EAW96975;EAW96976;EAW96977;EAW96978;EAW96979;EAW96980;NP_001171525;NP_037383;Q9UHF0 Hs.9730 1848581;2182088 A004P28;D12S1906 HH10;NKB;NKNB;PRO1155;ZNEUROK1 OTTHUMP00000211122;OTTHUMP00000211123;OTTHUMP00000211124;OTTHUMP00000211125;OTTHUMP00000211126;OTTHUMP00000211127;OTTHUMP00000211128;OTTHUMP00000211129;OTTHUMP00000211130;gamma tachykinin 3;neurokinin B-like;neuromedin K;preprotachykinin B;preprotachykinin-B;tachykinin-3 APPROVED protein-coding ENSG00000166863 11521 08877 162330;614839 REVIEWED 619560 TAC1 tachykinin, precursor 1 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 q21-q22 97199311 97207720 + 97361271 97369784 + 1580863;2304260;2304275;2304320;2305984;2304321;2304327;2304337;5147812;5147836;5147638;5147822;5147636;6480464 18715640;18420958;18337316;2471579;18326823;18053315;17493276;19797759;11031342;12662901;10516226;16369913 1312203;9482938;8957234;1708336;9548509;19598235;19381016;19279355;19258923;19246391;19207952;19086053;19046942;19036058;18990442;18615578;18599605;18507649;18363037;18316470;18289674;18211417;18197882;18179473;18061399;17975140;17949241;17940602;17855557;17709376;17703412;17667845;17655760;17588657;17494790;17450584;17448763;17409218;17376622;17370082;17264209;17257983;17175032;16952549;16877367;16816831;16503654;15899028;15761654;15729363;15690122;15544859;15489334;15358539;15130944;14749007;14703707;14589248;14564346;14532289;12871824;12854086;12752772;12705477;12690205;12686752;12603817;12578734;12548712;12528114;12486316;12477932;12383866;12382579;11950831;11921119;11591789;11342427;11160316;11113362;11104584;10491292;10189055;9847074;9846828;9655475;9272936;8702757;8125298;7961636;7692486;3770210;3038549;2284201;22429353;11919172;11786503;16169070;22354721;20580442;19913121;20417061;20526012;20628086;18577758;11278902;19200949;19695094;19812951;19855234;19874574;19885583;19909213;20029189;20173430;20207019;20237496;20347265;20468064;20503287;21167238;20497485;20861424;20529207;16754659;20692311;20940324;21091716;17087112;21368235;20160043;19685709;21107196;22961239;22836729;21375557;21076839;21900206;21926539;21550738;22392530;20405330;21160161;22020760;22115773;22189180;21671725;22057425;22572771;22906243;23257919;22681041;23420374;22449753;18941231;22733436 6863 Q6FHM1;Q9Y494 AACC02000013;ABBA01045745;AC004140;AF050655;AF050656;AF050657;AF050658;AK222957;AMYH01017709;BC018047;CH236949;CH471091;CR407602;CR541730;DN992454;M68906;M68907;NM_003182;NM_013996;NM_013997;NM_013998;U37529;X54469 AAA60159;AAA60160;AAA79195;AAC15701;AAC15702;AAC15703;AAC15704;AAH18047;AAQ96888;AAQ96889;AAQ96890;AAQ96891;ABM83016;ABM86209;BAD96677;CAA38351;CAG28529;CAG46531;EAL24116;EAL24117;EAL24118;EAL24119;EAW76734;EAW76735;EAW76736;EAW76737;EAW76738;NP_003173;NP_054702;NP_054703;NP_054704;P20366 Hs.2563 1663435;1776853;2123431;2138395;2218070 D1S3260;STS-U37529;TAC1_3236;TAC2;WI-19154 Hs.2563;NK2;NKNA;NPK;TAC2 OTTHUMP00000204985;OTTHUMP00000204986;OTTHUMP00000204987;PPT;neurokinin 1;neurokinin 2;neurokinin A;neurokinin alpha;neuromedin L;neuropeptide K;neuropeptide gamma;preprotachykinin;protachykinin-1;substance K;substance P;tachykinin 2;tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) APPROVED protein-coding ENSG00000006128 11517 08876 162320 REVIEWED 1342908 TACC1 transforming, acidic coiled-coil containing protein 1 This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 8 8 p11.22 38763938 38829703 + 38585704 38710546 + 1580863;6480464 11903063;12165861;14603251;15064709;18984771;17081983;16496324;16344560;15592455;15489334;15207008;14767476;14702039;12547166;12477932;12389629;12087473;11121038;10470851;22837387;10435627;10366448;19176389;14602875;20078863;20508983;18029348;20734064;21531210;22939629;21139048;21906983;22558309 6867 B4E3H6;E5RFM9;E5RI10;E5RIP3;E5RJG6;E5RJU4;E7ET87;E7EVI4;G8JLK4;H0YAY0;H0YBT8;Q5HYH0;Q8IZG2;R4GMT7 AB029026;ABBA01023520;ABBA01023521;ABBA01023522;ABBA01023523;AC016813;AC067817;AF049910;AF075051;AK124297;AK294931;AK295071;AK295841;AK303596;AK304507;AK304725;AK304774;AK308849;AK314620;AMYH01018655;AMYH01018656;AMYH01018657;AY039239;AY072873;AY072874;AY072875;AY072876;AY139007;AY177411;BC041391;BX647696;CH471080;DA553264;DB084271;NM_001122824;NM_001146216;NM_006283 AAC32327;AAH41391;AAK68658;AAL62460;AAL62461;AAL62462;AAL62463;AAN28955;AAO53446;ADZ15994;BAA83055;BAG37186;BAG58010;BAG58118;BAG64611;BAG65314;BAG65488;BAG65529;BAH12199;CAI46025;EAW63293;EAW63294;EAW63295;EAW63296;EAW63297;EAW63298;NP_001116296;NP_001139688;NP_006274;O75410 Hs.279245 1654780;1658048;1658838;1770079;1770824;1850918;1857652;2130402;2136214;2140439;2142761;2148742;2153231;2158047;2161273;2191419;5022578;5022651 A007I37;Cda1hf08;D11S2921;D1S1423;D8S1665;D8S1943;D8S2317;G15830;MARC_21744-21745:1024336670:3;RH12260;RH46312;RH65979;RH70332;RH79091;SHGC-33341;SHGC-56605;STS-D80026;STS-H47327 DKFZp686K18126;FLJ42304;Ga55;KIAA1103 OTTHUMP00000225580;OTTHUMP00000225581;OTTHUMP00000225582;OTTHUMP00000225586;OTTHUMP00000225587;OTTHUMP00000225588;OTTHUMP00000225589;OTTHUMP00000225590;OTTHUMP00000226044;gastric cancer antigen Ga55;taxin 1;taxin-1;transforming acidic coiled-coil-containing protein 1 APPROVED protein-coding ENSG00000147526 11522 10391 605301 REVIEWED 731008 TACR1 tachykinin receptor 1 This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008] 2 2 p12 75129738 75279781 - 75273590 75426645 - 2304260;2304266;2304275;2304250;2304258;2304327;2304276;2304321;1626451;2304320;2304339;2304340;5147835;5147837;5147818;5147819;5147820;5147833;5147636;5147816;5147645;5147668;5147638;5147812;5147821;5147475;5147811;5147834;6480464;6907045 18715640;18580444;18420958;19261870;18945947;18053315;18407414;18326823;17542534;18337316;17392578;17382773;12768696;8630576;19445658;18523300;17565047;18063836;16369913;19633070;8240667;21467195;12662901;19797759;12857498;16409782;20176632;15272104 17986524;8985172;1657150;9537323;10854844;10611312;19222484;19207952;19086053;19036058;18835556;18713853;18572194;18452185;18394729;18363037;18289674;18203813;18187929;18180429;18085301;17667845;17602742;17563389;17525212;17448763;17443717;17370082;17050807;17023511;16901764;16893949;16815618;16675550;16670094;16618119;16344560;16305827;16154193;16123103;17713785;15690122;15664664;15590676;15489334;15452552;15130944;14601651;12810079;12752772;12727971;12686752;12594338;12548712;12528114;12477932;12427486;12393913;12383866;12151774;12147210;12130725;12067742;11950831;11906947;11864635;11857684;11786503;11698023;9754802;9733503;8384323;7782081;7692486;2548782;1883349;1723045;1718267;1659396;1374227;1312928;1310144;1281469;1280161;8702757;15452121;18095097;19204064;19351798;19545476;19553914;19805509;19885583;19903051;20008142;20021265;20074437;20117843;20137858;20173430;20237496;20379614;20398908;20468064;21034671;16754659;22225860;20940324;21091716;20160043;23024816;23166329;21577011;23553861;21478256;21969570;21120581;21188466;21925840;22115773;22057425;23235155;23257919;23142211;23420374;23471985;22733436;22554585 6869 P25103;Q53TR1 ABBA01075616;ABBA01075617;AC007400;AC007681;AK289765;AMYH01010456;AW206679;AY462098;BC074911;BC074912;BC095528;CH471053;DB203452;M74290;M76675;M81797;M84425;M84426;NG_029522;NM_001058;NM_015727;S62045;X65177 AAA36641;AAA36644;AAA59933;AAA59936;AAA60601;AAB20168;AAH74911;AAH74912;AAH95528;AAR23925;AAY14950;AAY15031;BAF82454;CAA46292;EAW99595;EAW99596;NP_001049;NP_056542;P25103 Hs.633301 1298185;1648477;1655782;1658414;1668344;1694750;1721591;1722357;1767365;1776290;1852827;2154451;2173307;7185556 A008C01;D2S286;G31043;G43577;G59805;G60248;RH69174;SHGC-12520;SHGC-12799;SHGC-30537;SHGC-37085;STS-T91312;WI-18908 NK1R;NKIR;SPR;TAC1R NK-1 receptor;NK-1R;OTTHUMP00000160434;OTTHUMP00000202743;neurokinin 1 receptor;substance-P receptor;tachykinin 1 receptor (substance P receptor, neurokinin 1 receptor);tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) APPROVED protein-coding 11526 01208 162323 REVIEWED 736836 TACR2 tachykinin receptor 2 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008] 10 10 q22.1 70833964 70846680 - 71163958 71176674 - 1580863;2304260;5147478;5147640;5147641;5147627;5147480;5147638;6480464 18715640;12490601;20175803;19880429;19583679;11342967;12662901 1661704;1659297;8307161;10862829;2173708;19375820;19258923;19086053;18835556;18601911;18219665;18203813;17703412;17532769;17503489;17448763;17402972;16893949;16344560;15690122;15294896;14702039;12801882;12742655;12477932;12427486;11906947;11786503;10189055;7961636;7721803;1848773;1845990;1710456;1659296;1370160;15452121;16385451;20503287;16754659;22474018;18051367;23142211;22733436 6865 A6NEW7;P21452 AB065731;ABBA01019607;AC016821;AF361880;AK096906;AK291996;AK300649;AMYH01002806;AMYH01002807;AY322545;BC033742;BC096842;CH471083;DA929480;M57414;M60284;M75105;NM_001057 AAA60347;AAB05897;AAC31760;AAH96842;AAK51938;AAP84358;BAC05952;BAF84685;BAG62337;EAW54324;EAW54325;NP_001048;P21452 Hs.88372 1683839;1720791;1742255;2162937 G59370;GDB:193874;RH11099;RH46959 NK2R;NKNAR;SKR;TAC2R NK-2 receptor;NK-2R;OTTHUMP00000019722;neurokinin 2 receptor;neurokinin A receptor;seven transmembrane helix receptor;substance K receptor;substance-K receptor APPROVED protein-coding ENSG00000075073 11527 01207 162321 VALIDATED 735782 TACR3 tachykinin receptor 3 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008] 4 4 q25 104730074 104860422 - 104510625 104640973 - 1580863;2305929;2305980;2305984;2305951;2304256;6480464 18650316;7898759;2471579;10891623;19093101 8990205;19258923;1374246;19079066;18835556;18422838;18287949;18203813;17703412;17448763;16709596;15489334;15130944;12477932;11786503;10866201;10189055;9272936;8925404;2452993;1315051;1312928;1312036;8702757;15452121;19755480;20194706;20332099;20503287;20332248;20395662;16754659;18577758;22766261;23019350;22031817;22424618 6870 P29371;Q4VBL9 ABBA01063716;AC004065;AC105460;AMYH01014435;AMYH01014436;AY462099;BC095527;BC121806;BC122551;CH471057;M89473;NG_023344;NM_001059;S86392;X65172 AAA36366;AAB21706;AAH95527;AAI21807;AAI22552;AAR23926;CAA46291;EAX06173;NP_001050;P29371 Hs.942 1654581;1659666;2115027;2131255;2146945;2152608;2168014;2169913;2173277;2181436;2182504;2186452 AFMa070th5;D4S2650;G34495;RH70865;SHGC-23722;SHGC-23736;SHGC-23745;SHGC-23748;SHGC-23760;SHGC-50614;WI-18877;WI-9174 HH11;MGC148060;MGC148061;NK-3R;NK3R;NKR;TAC3RL NK-3 receptor;OTTHUMP00000161767;neurokinin B receptor;neurokinin beta receptor;neuromedin-K receptor;tachikin receptor 3 APPROVED protein-coding 11528 01209 162332;614840 REVIEWED 1602721 TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010] 17 17 17 q23.3 56066314 56073847 + 59031975 59039457 + 61678231 61685725 + 6480464 19503089;16189514;15489334;14702039;12477932;20727754;17207965;18029348;20877624;21832049;22939629;21139048;21890473 51204 Q8N9Q7;Q9BSH4 ABBA01035328;AC046185;AC113554;AK094052;AK315375;AL833861;AMYH01008548;BC005049;BC007744;CH471109;NG_016979;NM_016360 AAH05049;AAH07744;ADQ32448;BAC04273;BAG37768;CAD38719;EAW94302;EAW94303;EAW94304;NP_057444;Q9BSH4 Hs.174134 2177389;5015861;5020948;5022450;7185938 D10S16;D10S275;G35510;SHGC-36189 CCDC44 clone HQ0477 PRO0477p;coiled-coil domain-containing protein 44;translational activator of cytochrome c oxidase 1 APPROVED protein-coding ENSG00000136463 24316 17421 612958 REVIEWED 1349981 TACC2 transforming, acidic coiled-coil containing protein 2 Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 q26 123738679 124004047 + 123748689 124014057 + 1580863;6480464 15207008;18519826;16964243;15489334;15304323;15164054;14767476;14702039;12711550;12620397;12477932;11161455;11121038;10749935;10637228;10435627;10366448;16169070;14602875;16385451;19671663;20379614;20508983;20335520;23080069;22939629;18029348;22210879;19850743;20360068;22456197;21906983;20467438;23049088;23251661;15146197 10579 D6RAA5;E7EMZ9;E9PBC6;E9PGB3;H0Y8P9;H0Y911;H0Y954;H0Y9C3;H0Y9Y7;H0YA73;Q4VXL4;Q4VXL8;Q8TCK9 ABBA01062846;ABBA01062847;ABBA01062848;ABBA01062849;ABBA01062850;ABBA01062851;AC063960;AF095791;AF176646;AF220152;AF528098;AF528099;AK027066;AK056743;AK075097;AK094848;AK095371;AK295631;AL135793;AL713712;AL731566;AL833304;AMYH01003131;AMYH01003132;AMYH01003133;AMYH01003134;AMYH01003135;BC000999;BC010219;BC015736;BC029124;BC031036;BC039311;BC141837;BC142673;BC144599;BC144600;BC150627;CH471066;CN420638;DR001720;NG_029948;NM_006997;NM_206860;NM_206861;NM_206862 AAC64968;AAF29537;AAF63433;AAH00999;AAH39311;AAI44600;AAI44601;AAI50628;AAO62629;AAO62630;BAH12132;CAD28509;EAW49325;NP_008928;NP_996742;NP_996743;NP_996744;O95359 Hs.501252;Hs.713875 1669901;1672178;1758181;1857582;2108953;2116660;2118206;2124556;2155438;2155440;2168075;5037552;5114403 A002B31;D10S1318E;D10S1628;D10S2403;D8S2279;G19896;RH41996;RH45823;RH46540;SHGC-147599;SHGC-31995;TACC2_9145;WI-21650 AZU-1;ECTACC OTTHUMP00000020643;OTTHUMP00000020644;OTTHUMP00000020645;OTTHUMP00000020646;OTTHUMP00000035135;OTTHUMP00000217061;OTTHUMP00000217062;OTTHUMP00000217063;OTTHUMP00000217064;OTTHUMP00000217070;anti zuai-1;anti-Zuai-1;transforming acidic coiled-coil-containing protein 2 APPROVED protein-coding ENSG00000138162 11523 05600 605302 REVIEWED 1353438 TACC3 transforming, acidic coiled-coil containing protein 3 This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011] 4 4 p16.3 1693062 1716696 + 1723217 1746905 + 6480464;7240710 8570611;17914111;17675670;16964243;15489334;15302935;14767476;12927788;12711550;12477932;12389629;12015314;11847113;11298601;11121038;10366448;8125298;22837387;20923838;14602875;17060449;19148534;19823035;20056645;20348956;20508983;20566684;16410616;20729911;18029348;20972438;21297582;22939629;20838383;21113414;20237422;16344560;20360068;21815251;21139048;21890473;21906983;23175443;23298836;23348690;15851029 10460 C9JA91;C9JWI7;E7EMT0;F8WC55;H0Y8F2;Q9Y6A5 AA682436;ABBA01029532;AC016773;AF093543;AF479620;AI684124;AJ243997;AK225631;AK302463;AK304579;AK310660;AMYH01013866;AMYH01013867;AMYH01013868;BC106071;BC111771;CH471131;DB098941;M63005;M63480;NM_006342;U38441 AAD25964;AAI06072;AAI11772;AAN76993;BAG63753;BAG65367;CAB53009;EAW82574;EAW82575;NP_006333;Q9Y6A5 Hs.104019 1670306;1675854;1695966;1699982;1775264;2144510;2150486;2186583 D4S113;RH103601;RH47676;SHGC-59556;SHGC-63615;SHGC-78926;SHGC4-824;STS-N23259 ERIC-1;ERIC1;MGC117382;MGC133242 ERIC-1;OTTHUMP00000113796;transforming acidic coiled-coil-containing protein 3 APPROVED protein-coding ENSG00000013810 11524 05601 109800;605303 REVIEWED 1349671 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. This gene is part of a complex transcriptional unit (TAF1/DYT3), wherein some products share exons with TAF1 as well as additional exons downstream.[provided by RefSeq, Aug 2009] X X q13.1 70502839 70601025 + 70586114 70685855 + 1580863;6480464;7240710 7824954;7729427;9660973;17996705;8980232;15053879;8625415;9405375;18029348;1939271;2449431;8946909;14580349;18580066;18548200;17952504;17505112;17327284;17273961;17237821;16713569;16705091;16366515;16155788;16113828;15978108;15939070;15870300;15306156;15087451;14871254;14719174;14717966;14651335;12958613;12928496;12876631;12842904;12569092;12498690;12217962;12093919;12040021;11909971;11871391;11748221;11686293;11592977;11564872;11564863;11316804;11278496;11257518;11126356;11005381;10827952;10759893;10737800;10704353;10469661;10428810;9926939;9880542;9858607;9765293;9751712;9603936;9584164;9488465;9482861;9388200;9242374;9054383;9045704;8849451;8764062;8764009;8700832;8680883;8663456;8650542;8577725;8450888;8224850;8163188;8121496;8065335;7958900;7933101;7923369;7836461;7835343;7809597;20393127;7724559;7724524;7680771;7668293;7667268;7590250;3556424;3169001;2038334;1876184;1518853;9153318;10359315;7926747;12665565;15710329;15601843;22711989;19240132;20936779;15960975;16919237;17643375;18305892;20181722;20587494;20937824;12453419;20301662;17884155;19578124;17375202;17967894;21616129;15899866;22939629;8858156;14731392;14759373;9603525;20421419;21729782;21890473;23000965;9674425;21139048;21145483;7597030;8995708;9311784;21819230;14992727;23184149;19716452 6872 B1Q2X3;H0Y8N6;H0Y9L7;H7BY98;H7C2K9;Q70T02 AB209316;AB300418;ABBA01067726;ABBA01067727;ABBA01067728;ABBA01067729;ABBA01067730;ABBA01067731;ABBA01067732;ABBA01067733;ABBA01067734;ABBA01067735;ABBA01067736;ABBA01067737;ABBA01067738;ABBA01067739;ABBA01067740;ABBA01067741;ABBA01067742;ABBA01067743;ABBA01067744;ABBA01067745;ABBA01067746;AJ549245;AJ549246;AJ549247;AJ549248;AJ549249;AJ549250;AJ555148;AJ555149;AK310201;AL590762;AL590763;AM711892;AM711893;AM711894;AM711895;AMYH01022536;AMYH01022537;AW937788;AY623109;BQ027170;CH471132;D90359;M73444;NG_012771;NM_004606;NM_138923;R66536;X07024 AAI72427;AAT38105;BAA14374;BAD92553;BAG15901;CAA30073;CAD70488;CAD70489;CAD70490;CAD70491;CAD70492;CAD70493;CAD87527;CAD87528;CAM98555;CAM98556;CAM98557;CAM98558;EAX05291;EAX05292;EAX05293;EAX05294;EAX05295;NP_004597;NP_620278;P21675 Hs.158560 1340611;1702044;1702946;1722889;1767353;1791085;1791087;1791089;1850578;2107651;2131380;2148394;2167497;2181358;2218074;5121492;5125989 DXS7117;DXS7119;DXS7502;DXS8030;G60539;GDB:192491;RH172;RH46036;SGC34215;TAF1L_3640;TAF1_3469.2;TAF2A2-1;TAF2A2-2;TAF2A2-3;TAFII250;UniSTS:99087;WIAF-2170 BA2R;CCG1;CCGS;DYT3;DYT3/TAF1;KAT4;N-TAF1;NSCL2;OF;P250;TAF2A;TAFII250;XDP OTTHUMP00000024334;OTTHUMP00000024335;TAF(II)250;TAFII-250;TBP-associated factor 250 kDa;cell cycle gene 1 protein;cell cycle, G1 phase defect;complementation of cell cycle block, G1-to-S;transcription factor TFIID p250 polypeptide;transcription initiation factor TFIID 250 kDa subunit;transcription initiation factor TFIID subunit 1 APPROVED protein-coding ENSG00000147133 11535 02436 313650;314250 REVIEWED 1342963 TACSTD2 tumor-associated calcium signal transducer 2 This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009] 1 1 p32 58813231 58816033 - 59041095 59043166 - 1599194;1580863;6480464;7240710 10192395 21551320;7665234;19088204;18829570;18813308;18281513;18084248;17898270;17878632;17768381;17721311;17653040;17167402;17081983;16707602;16341674;16232198;15851553;15652848;15489335;15489334;15295654;15013888;12614764;12477932;12107443;12036680;11687514;11306819;11004271;10937555;10928776;10844062;9610724;9462726;8382772;2911574;15607035;20858281;20060709;20473768;20454699;19421758;19434540;19693293;21052915;20651236;21674799;23038033;23055188;21677668;21246534;21418992;21541270;22419550;22190649;22304920;23031786;22075385;22318606;22378065;23536555;22562244;22349828 4070 P09758 ABBA01074659;AI201870;AL035411;AMYH01000655;AW052118;BC009409;BM765888;BT007255;CD722224;CH471059;CR542260;CV027795;FJ970024;GU138371;J04152;NG_016237;NM_002353;X13425;X77753 AAA52505;AAH09409;AAP35919;ABM83527;ABM86761;ACR78188;ACZ01960;CAA31781;CAA54799;CAG47056;EAX06630;NP_002344;P09758 Hs.23582 1648730;1653756;1725567;2178424;2185758 D1S2398;G62083;RH36205;RH47574;RH67868 EGP-1;EGP1;GA733;GA733-1;GA7331;GP50;M1S1;TROP2 40kD glycoprotein, identified by monoclonal antibody GA733;OTTHUMP00000011755;cell surface glycoprotein TROP2;cell surface glycoprotein Trop-2;epithelial glycoprotein-1;gastrointestinal tumor-associated antigen GA7331;membrane component chromosome 1 surface marker 1;membrane component, chromosome 1, surface marker 1;pancreatic carcinoma marker protein GA733-1;pancreatic carcinoma marker protein GA7331;tumor-associated calcium signal transducer 2 APPROVED protein-coding ENSG00000184292 11530 00672 137290;204870 REVIEWED 1606748 TADA1 transcriptional adaptor 1 TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009] 1 1 1 q24.1 139930880 139950792 - 165092371 165112103 - 166825747 166845654 - 6480464 11564863;19064610;15146197;12477932;9726987;17643375;19536175;19615732;18250150;20946988;21139048;22287124;22505724;23044487 117143 Q96BN2 ABBA01047257;AK290964;AK291922;AK309250;AK310391;AL008639;AL009182;AMYH01001479;BC015401;BC036497;CH471067;CN399642;NM_053053 AAH15401;ABZ92130;BAF83653;BAF84611;EAW90778;NP_444281;Q96BN2 Hs.435967 1663279;1735350;1857534;5125468 D3S2967E;RH16504;SGC34611;SHGC-57163 ADA1;HFI1;RP1-9E21.4;STAF42;TADA1L;hADA1 OTTHUMP00000032213;SPT3-associated factor 42 (STAF42);transcriptional adapter 1;transcriptional adapter 1-like protein;transcriptional adaptor 1 (HFI1 homolog, yeast);transcriptional adaptor 1 (HFI1 homolog, yeast)-like APPROVED protein-coding ENSG00000152382 30631 18114 612763 VALIDATED 2979550 TADA2B transcriptional adaptor 2B TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010] 4 4 4 p16.1 6948574 6963098 + 7096057 7110580 + 7045156 7059679 + 6480464 12477932;12972612;14702039;18936164;19615732;20379614;18838386;20534441;21139048;22505724 93624 D6RC20;D6RJ05;Q86TJ2 ABBA01012737;AC097382;AK026299;AK093974;AK096655;AK126966;AMYH01013922;BC013164;BC047794;BC064337;BC078156;BC101334;BC101335;BC101336;BC101337;BX641147;BX648428;CH471131;NM_152293 AAH47794;AAI01335;AAI01336;AAI01337;AAI01338;BAG52792;BAG53348;BAG54411;CAE46064;EAW82372;NP_689506;Q86TJ2 Hs.518614 1682281;1797152;2115427;2175778;2176731;5024756;5037552;5106856 D8S2279;G01889;G34299;MGC21874;RH80030;SHGC-59597;SHGC-67698;SHGC-8603 ADA2(beta);ADA2B;MGC21874 ADA2-beta;ADA2-like protein beta;OTTHUMP00000217249;OTTHUMP00000217250;OTTHUMP00000217254;transcriptional adapter 2-beta;transcriptional adaptor 2 (ADA2 homolog, yeast)-beta APPROVED protein-coding 30781 608790 VALIDATED 1343397 TAF13P1 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1 6 6 6 q14.3-q15 88554151 88554572 - 88192132 88192625 - 88135358 88135779 - 246112 ABBA01040494;AL049697;AMYH01016493;NG_001573 TAF13P APPROVED pseudo 18699 INFERRED 3050998 TAF13P2 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2 2 2 74409403 74409736 + 74578213 74578546 + 100462886 ABBA01075600;AC005041;AMYH01010454;NG_021566 pseudo 38161 INFERRED 1320582 TADA2A transcriptional adaptor 2A Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009] 17 17 q12-q21 32841425 32911339 + 35766977 35837226 + 6480464 8125298;11707411;9674425;8552087;18059173;16299514;15489334;14702039;12972612;12477932;9885574;9154805;9073520;8972232;12034840;16189514;9649342;9488450;12660246;20602615;17207965;15932940;18250150;20508642;22990118;18838386;23044487;22644376;21988832;22939624;23503679;23535730;9792714 6871 K7EJX2;K7EK94;K7EKE3;K7EME2;K7ER71;O75478 ABBA01001365;ABBA01001366;ABBA01001367;ABBA01001368;ABBA01001369;ABBA01001370;AC004099;AC068400;AC068447;AF064094;AF069732;AK022767;AK096371;AK225918;AL526501;AMYH01008361;BC001172;BC011753;BM470857;CD101741;CH471199;NM_001166105;NM_001488;NM_133439 AAC26659;AAC39902;AAH01172;AAH11753;ADQ32174;BAG51111;BAG53275;EAW57587;EAW57588;EAW57589;EAW57590;EAW57591;NP_001159577;NP_001479;NP_597683;O75478 Hs.500066 1685161;1719987 G58932;RH93734 ADA2;ADA2A;FLJ12705;KL04P;TADA2L;hADA2 ADA2-like protein;OTTHUMP00000164062;OTTHUMP00000164063;transcriptional adapter 2-alpha;transcriptional adapter 2-like;transcriptional adaptor 2 (ADA2 homolog, yeast)-like;transcriptional adaptor 2 (ADA2, yeast, homolog)-like;transcriptional adaptor 2 alpha;transcriptional adaptor 2-like APPROVED protein-coding ENSG00000108264 11531 03784 602276 REVIEWED 1314218 TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008] 11 11 p15.3 6588649 6590021 - 6632048 6633475 - 1580863;6480464 16415881;8598193;15099517;7923369;7729427;9674425;11564863;9603525;9212049;9405375;18206972;8946909;15870280;1939271;2449431;10373431;17599049;15489334;14580349;12762840;12477932;11438666;11406595;10469660;9885574;9154123;9054383;8849451;8764062;8764009;8680883;8530084;8121496;7933101;7836461;7835343;9153318;7680771;16169070;12660246;14499622;17375202;17967894;15115762;17643375;18029348;20106982;18250150;20457598;19240132;17709345;22323595;12601814;17884155;21729782;22939629;22834489 6881 Q12962 ABBA01028670;AC091564;AF498312;AL833496;AMYH01003367;BC012088;BM990572;CH471064;CR541943;NG_008653;NG_029702;NM_006284;U13991;U25816 AAA62230;AAB61242;AAH12088;AAM14627;CAG46741;EAW68687;NP_006275;Q12962 Hs.5158 1651801;1652942;1775056;1793068;1795150;1795152;1850592;2115101;2131904;2217488 A002C40;ILK_2854;PMC193924P6;PMC99905P1;PMC99905P2;RH12375;RH36325;RH70892;WI-11808;WI-22555 TAF2A;TAF2H;TAFII30 OTTHUMP00000164586;STAF28;TAF(II)30;TAFII-30;TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD;transcription initiation factor TFIID 30 kD subunit;transcription initiation factor TFIID 30 kDa subunit;transcription initiation factor TFIID subunit 10 APPROVED protein-coding 11543 15972 600475 REVIEWED 1313766 TAF11 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 p21.31 34953533 34963797 - 34845555 34855848 - 1580863;6480464 7729427;10744685;8670810;9405375;9108034;8946909;1939271;2449431;15489334;14580349;14574404;12477932;9695952;9632676;9584164;9311784;9054383;9045704;8849451;8820923;8764062;8764009;8680883;8121496;7933101;7836461;7835343;9153318;9488465;9159119;11827452;16344560;19240132;11689552;20211142;21832049;17375202;17967894;22581228;15502823;9603525;19322201;10591645 6882 Q15544 ABBA01038211;ABBA01038212;ABBA01038213;ABBA01038214;AF118094;AI755269;AK302226;AK313475;AL033520;AMYH01016263;AY217767;BC021972;BT019404;BT019405;BX538195;BX647568;CR542068;D63705;DA153455;NM_001270488;NM_005643;X83928 AAF22038;AAH21972;AAO25652;AAV38211;AAV38212;ABM84165;ABM87568;BAA23620;BAG36260;BAG63580;CAA58780;CAG46865;NP_001257417;NP_005634;Q15544 Hs.112444 1672791;1678539;1771465;2110767;2142064;2169383 RH25717;RH46827;SGC32109;SHGC-35399;TAF11_3477;WI-16899 MGC:15243;PRO2134;TAF2I;TAFII28 OTTHUMP00000016241;TAF(II)28;TAFII-28;TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD;TFIID subunit p30-beta;transcription initiation factor TFIID 28 kD subunit;transcription initiation factor TFIID 28 kDa subunit;transcription initiation factor TFIID subunit 11 APPROVED protein-coding ENSG00000064995 11544 15980 600772 REVIEWED 1314884 TADA3 transcriptional adaptor 3 DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 3 3 p25.3 9796651 9809420 - 9821651 9834420 - 1580863;6480464 17643375;19615732;15383276;16189514;9674425;11256614;19194825;18377363;18256148;18089809;18059173;17452980;17272277;16381901;16169070;15496419;15489336;15489334;14702039;12477932;12235159;12138191;12034840;11707411;11564863;11406595;11230166;11076863;10373431;9674419;12660246;19913121;20628086;20413580;18838386;15932940;18250150;9885574;20534441;22939629;18029348;19471022;16344560;23288344;23167988;22736770;23044487 10474 C9JMS0;O75528 AA602644;ABBA01020400;AC022382;AF069733;AK000228;AK024982;AK292264;AL117487;AMYH01012964;BC001480;BC009240;BC013433;BG477633;BM560517;CH471055;CR533543;DB032623;NM_001278270;NM_006354;NM_133480;NR_103488 AAC39903;AAH09240;AAH13433;AAI41662;ABZ92464;BAF84953;CAB55957;CAG38574;CAL37474;CAL37705;CAL37958;EAW63994;EAW63995;EAW63996;EAW63997;NP_001265199;NP_006345;NP_597814;O75528 Hs.386390 2138963;2153554;5037552;5491328 D8S2279;PMC117179P1;RH78176;WI-14334 ADA3;FLJ20221;FLJ21329;NGG1;STAF54;TADA3L;hADA3 ADA3 homolog;ADA3-like protein;OTTHUMP00000158554;OTTHUMP00000158555;OTTHUMP00000207467;STAF54;transcriptional adapter 3;transcriptional adapter 3-like;transcriptional adaptor 3 (NGG1 homolog, yeast)-like APPROVED protein-coding ENSG00000171148 19422 04252 602945 REVIEWED 1313406 TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008] 1 1 1 p13.3 107876546 107888009 - 109408521 109420147 - 109606998 109618624 - 1580863;6480464 12878157;7729427;9695952;9405375;8946909;1939271;2449431;16710414;15489334;12477932;9054383;8849451;8764062;8764009;8680883;8121496;7933101;7836461;7835343;9488465;11438666;17643375;9311784;19240132;22939629;17375202;18029348;21906983 6884 Q0VA92;Q15543 ABBA01068365;ABBA01068366;ABBA01068367;AK312158;AMYH01000928;AU280379;AV713996;BC121180;BC121181;BG675152;BX679664;CH471122;NM_005645;X84003 AAI21181;AAI21182;BAG35092;CAA58827;EAW56354;EAW56355;NP_005636;Q15543 Hs.632426 1724377 RH122712 MGC22425;TAF(II)18;TAF2K;TAFII-18;TAFII18 OTTHUMP00000039343;OTTHUMP00000039344;TAF(II)18;TAFII-18;TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD;transcription initiation factor TFIID 18 kD subunit;transcription initiation factor TFIID 18 kDa subunit;transcription initiation factor TFIID subunit 13 APPROVED protein-coding 11546 600774 REVIEWED 1348553 TAF12 TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008] 1 1 p35.3 28802200 28842172 - 28929608 28969604 - 1580863;6480464 8946909;7836461;7729427;7667268;11438666;9603525;9405375;18029348;1939271;2449431;14580349;17268553;16710414;15735663;15601843;15489334;12601814;12477932;12237304;11564863;11406595;10594036;9885574;9674425;9311784;9054383;9045704;8889548;8849451;8764062;8764009;8680883;8663456;8647459;8598932;8121496;7933101;7835343;11564872;12660246;16494529;19635797;9133630;19240132;11689552;15932940;17967894;17264123;22323595;19322201;18838386 6883 Q16514 ABBA01035046;ABBA01035047;ABBA01035048;ABBA01035049;ABBA01035050;ABBA01035051;AK310097;AL513497;AL840644;AMYH01000433;AMYH01000434;AY206865;BC011986;BE787487;BM676557;BT007031;BX095156;CH471059;CX865268;D50544;NM_001135218;NM_005644;U57693;X84002 AAC50600;AAC50601;AAH11986;AAO13491;AAP35678;ABM84665;ABM92197;BAA09112;CAA58826;EAX07680;EAX07681;EAX07682;EAX07683;NP_001128690;NP_005635;Q16514 Hs.530251 1647820;1852816 RH67949;SHGC-30964 TAF2J;TAFII20 OTTHUMP00000003785;OTTHUMP00000003786;TAFII-20/TAFII-15;TAFII20/TAFII15;TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD;transcription initiation factor TFIID 20/15 kDa subunits;transcription initiation factor TFIID subunit 12 APPROVED protein-coding ENSG00000120656 11545 15981 600773 REVIEWED 1320016 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 17 17 q11.1-q11.2 31160601 31198351 + 34136459 34174246 + 1580863;1599281;6480464;7240710 10602519 19124016;18620564;18330902;15782174;15635413;15324660;21145461;22771914;15094065;15066997;12477932;12359745;9795213;9660765;9488465;9054383;8954779;8890175;8849451;8764062;8764009;8680883;8663456;8121496;7933101;7836461;7835343;12183049;21344536;21504714;19282884;19426707;20048082;20379614;22019700;19454010;9885574;21438137;22939629;19135240;21856723;17361185;21628590;19783543;22454397;20360068;21078624;22065782;8598932;21890473;21906983;16344560;22586326;21729782;21988832;22053931;23049996 8148 K7EJB3;K7EKB2;K7EL85;K7EN07;K7ENI1;K7EPM5;K7EPT6;Q86X94;Q92804 AB010067;ABBA01011235;ABBA01011236;ABBA01011237;AC015849;AI351964;AK304520;AK307637;AK313223;AK314194;AMYH01008355;AY197697;BC030591;BC039129;BC046099;BC048985;BG403710;CH471147;DB166653;NG_023279;NM_003487;NM_139215;U51334;X98893 AAC50932;AAH46099;AAO13485;BAA33811;BAA33812;BAG36034;BAG36873;BAG65324;CAA67398;EAW80124;EAW80125;EAW80126;EAW80127;NP_003478;NP_631961;Q92804 Hs.402752 1683833;1738975;1778686;2107649;2186844 D17S1601;RH16499;RH47008;RH70664;TAF15_7913 Npl3;RBP56;TAF2N;TAFII68;hTAFII68 68 kDa TATA-binding protein-associated factor;RBP56/CSMF fusion;RNA-binding protein 56;TAF(II)68;TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56);TATA box-binding protein-associated factor 2N (RNA-binding protein 56);TATA-binding protein-associated factor 2N;TBP-associated factor 15 APPROVED protein-coding ENSG00000172660 11547 09031 601574;612237 REVIEWED 1313879 TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011] 1 1 q42 220798288 220829878 - 222731244 222763275 - 6480464 17268553;17318177;11163245;7801123;11250901;12393749;19246067;16710414;15489334;15226435;15113842;14702039;12477932;11250903;10913176;10894955;8013460;15723054;8889548;15315821;17251981;19615732;12511607;15136563;9050847;21139048;12783858 9015 A8K4K5;B4DS21;Q15573;Q5JRA7 ABBA01048047;AK001054;AK290970;AK299536;AK307882;AK315740;AL592148;AMYH01001746;BC013808;CH471100;CN479053;L39060;NM_001201536;NM_005681;NM_139352 AAA62862;AAH13808;ABM82007;ABM85189;BAA91482;BAF83659;BAG38095;BAG61483;EAW93271;EAW93272;EAW93273;NP_001188465;NP_005672;NP_647603;Q15573 Hs.153088 1661260;1687351;2171240;5020948;5037552;5109281;5126791 D1S1425;D8S2279;G35510;RH17651;RH78913;RH93891;SHGC-36982 MGC:17061;RAFI48;SL1;TAFI48 OTTHUMP00000035653;OTTHUMP00000035654;OTTHUMP00000035655;RNA polymerase I-specific TBP-associated factor 48 kDa;SL1, 48kD subunit;TATA box-binding protein-associated factor 1A;TATA box-binding protein-associated factor RNA polymerase I subunit A;TBP-associated factor 1A;transcription factor SL1;transcription initiation factor SL1/TIF-IB subunit A APPROVED protein-coding ENSG00000143498 11532 05362 604903 REVIEWED 1313816 TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011] 16 16 q24 82768962 82778163 - 84211453 84220676 - 1580863;6480464 12646563;7801123;9582279;11250901;12393749;16344560;16055704;15970593;15723054;15489334;15226435;14702039;12477932;11250903;10913176;10894955;11698641;22843504;20800603;20663923;19615732;9050847;17268553;17318177;12107410;21906983;21900206;22589738 9013 B3KUE8;F5H647;H3BMQ4;H3BNH3;H3BQH8;H3BQZ8;H3BR71;H3BR91;H3BTQ6;H3BUZ7;Q15572 AB209594;ABBA01016918;AC009123;AK097031;AK299060;AK299347;AK304261;AK304739;AK315982;AMYH01007867;AU130229;AY158985;BC028131;CA397963;CH471114;DC376588;DC377529;HI574118;HI574120;L39059;NM_001243156;NM_001243157;NM_001243158;NM_001243159;NM_001243160;NM_005679;NM_139353 AAA62861;AAH28131;AAN38818;ADZ15702;BAD92831;BAG53410;BAH12941;BAH13010;BAH14144;BAH14248;BAH14353;CBX47548;CBX47549;EAW95495;EAW95496;EAW95497;EAW95498;EAW95499;NP_001230085;NP_001230086;NP_001230087;NP_001230088;NP_001230089;NP_005670;NP_647610;Q15572 Hs.153022 1663283;1689396;1769711;1771768 RH17650;RH65170;RH69603;SHGC-60617 MGC:39976;SL1;TAFI110;TAFI95 RNA polymerase I-specific TBP-associated factor 110 kDa;SL1, 110kD subunit;TATA box-binding protein-associated factor 1C;TATA box-binding protein-associated factor RNA polymerase I subunit C;TBP-associated factor 1C;transcription factor SL1;transcription initiation factor SL1/TIF-IB subunit C APPROVED protein-coding ENSG00000103168 11534 05364 604905 REVIEWED 1314966 TAF1B TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. [provided by RefSeq, Jul 2008] 2 2 p25 9901024 9991996 + 9983571 10074545 + 6480464 7801123;9582279;11250901;12393749;12646563;17456004;16344560;15815621;15723054;15489334;12477932;12140758;11250903;10913176;10894955;17179179;11073993;19503063;19615732;20379614;12511607;15136563;15561719;16195249;9050847;17318177;21832049;21921198;21921199;19953087;21139048;21890473;21906983;12783858 9014 F8WDU0;F8WE32;Q53T94 AA746267;ABBA01015596;ABBA01015597;AC010969;AK026521;AK295402;AK308070;AK309751;AK315098;AMYH01010096;BC018137;CA423871;CH471053;DA910748;L39061;NM_005680 AAA62863;AAH18137;AAX93272;ABM85585;BAG58354;EAX00974;EAX00975;EAX00976;NP_005671;Q53T94 Hs.584833 1664559;1690346;1700990;1848301;1857433 RH104122;RH46460;RH66818;RH70089;WI-14767 MGC:9349;RAF1B;RAFI63;SL1;TAFI63 OTTHUMP00000200348;RNA polymerase I-specific TBP-associated factor 63 kDa;SL1, 63kD subunit;TATA box-binding protein-associated factor 1B;TATA box-binding protein-associated factor RNA polymerase I subunit B;TBP-associated factor 1B;transcription initiation factor SL1/TIF-IB subunit B APPROVED protein-coding ENSG00000115750 11533 05363 604904 REVIEWED 1601854 TAF1D TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009] 11 11 11 q21 90760547 90766156 - 93108743 93114310 - 93469095 93474703 - 6480464 15520167;17318177;15489334;14702039;12477932;16169070;19615732;17207965;21386990;21900206;21890473 79101 E9PKU8;E9PM59;H0Y3L3;H0YCH2;H0YG36;H0YH71;Q9H5J8 ABBA01040043;AF086435;AF275800;AK027016;AK057183;AK128061;AMYH01003959;AP001273;BC001972;BQ774057;CH471065;CR457369;DW450227;NM_024116 AAG23815;AAH01972;ADQ31841;BAB15628;CAG33650;EAW66912;EAW66913;EAW66914;NP_077021;Q9H5J8 Hs.355750 1668602;1675686;1754157;2147584 D11S4346;D11S4684;RH35;SHGC-132183 FLJ23363;FLJ32621;FLJ46181;JOSD3;MGC5306;RAFI41;TAF(I)41;TAFI41 Josephin domain containing 3;OTTHUMP00000235965;RNA polymerase I-specific TBP-associated factor 41 kDa;TAFI41;TATA box-binding protein-associated factor 1D;TATA box-binding protein-associated factor RNA polymerase I subunit D;TBP-associated factor 1D;transcription initiation factor SL1/TIF-IB subunit D APPROVED protein-coding 28759 14679 612823 VALIDATED 1354016 TAF1L TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2009] 9 9 9 p21.1 32560665 32566880 - 32619452 32625667 - 32629452 32635667 - 1580863 12217962;15489334;12477932;22658931;17643375;22939629;21890473 138474 Q8IZX4 ABBA01065079;AF390562;AL589642;AMYH01019320;BC116181;BC116182;NM_153809 AAI72227;AAN40840;NP_722516;Q8IZX4 Hs.591086 1791085;1791087;1791089;1791091;2167497;2218074 TAF1L_3640;TAF2A2-1;TAF2A2-2;TAF2A2-3;TAF2A2-4;WIAF-2170 MGC134910;TAF2A2 OTTHUMP00000215933;TAF(II)210;TBP-associated factor 1-like;TBP-associated factor 210 kDa;TBP-associated factor RNA polymerase 1-like;transcription initiation factor TFIID 210 kDa subunit;transcription initiation factor TFIID subunit 1-like APPROVED protein-coding ENSG00000122728 18056 09696 607798 PROVISIONAL 5508554 TAF5LP1 TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1 17 17 q12 30848827 30850676 + 33825235 33826200 + 645744 ABBA01011230;AC015911;AMYH01008354;NG_022466 1724977 RH118776 HsT33855;TAF5LP pseudo 24115 INFERRED 1345040 TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008] 20 20 q13.33 59983249 60074261 - 60549854 60640866 - 1580863;6480464;6907045 15641800;14702039;12810884;12601814;12237304;11988536;11959914;11780052;11687654;11564872;11564863;11406595;10594036;10409662;9742090;9054383;8849451;8764062;8764009;8680883;8121496;7933101;7836461;7835343;12665565;9153318;8942982;7729427;9418870;9192867;9603525;18029348;14580349;10373431;18206971;15735663;17967894;12771217;15601843;15960975;17643375;1939271;19635797;19851296;20198315;20379614;2449431;8946909;9405375;19240132;15333839;15703171;22939629;20557936;8858156;9311784;19322201;22323595;17884155;21729782;23326574;9674425 6874 O00268;Q5TBP5 ABBA01040109;ABBA01040110;ABBA01040111;ABBA01040112;AK123937;AL109911;AL137077;AMYH01012041;AMYH01012042;AMYH01012043;AY623115;CH471077;NM_003185;U75308;Y11354 AAC50901;AAI67776;AAT38111;CAA72189;EAW75406;EAW75407;NP_003176;O00268 Hs.18857 1664421;1664423;1679405;1757649;2110769 A005V13;G20531;RH91308;SHGC-146135;TAF4_3471 FLJ41943;TAF2C;TAF2C1;TAF4A;TAFII130;TAFII135 OTTHUMP00000031446;OTTHUMP00000031447;RNA polymerase II TBP-associated factor subunit C;TAF(II)130;TAF(II)135;TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD;TAFII-130;TAFII-135;TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD;TBP-associated factor 4;transcription initiation factor TFIID 130 kDa subunit;transcription initiation factor TFIID 135 kD subunit;transcription initiation factor TFIID 135 kDa subunit;transcription initiation factor TFIID subunit 4 APPROVED protein-coding ENSG00000130699 11537 11797 601796 REVIEWED 1323524 TAF3 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009] 10 10 10 p15.1 7786469 7982025 + 7900679 8096720 + 7860673 8056714 + 6480464 17704303;11438666;15870280;19240061;19023099;18549481;17975119;17081983;15489334;15302935;15164054;14702039;12477932;17643375;19240132;20808825;21884934;22939629;17884155;20953165;21729782;23452851;23382691 83860 Q5VWG9 ABBA01034731;ABBA01034732;ABBA01034733;ABBA01034734;ABBA01034735;AJ292190;AK123254;AK307521;AK307657;AL117661;AL159172;AL353754;AL390294;AMYH01002014;AMYH01002015;BC017320;BC024661;BC028077;BC045106;BC062352;BC073884;BC105593;NM_031923 AAH17320;AAH45106;AAH62352;AAH73884;AAI05594;AAI72366;CAB56032;CAC34475;NP_114129;Q5VWG9 Hs.527688;Hs.709995 1341987;1674314;1722021;1731066;1767753;1770119 D10S282;D7S482;G59897;RH69727;SHGC-33903;WIAF-2158 MGC25063;TAF140;TAFII-140;TAFII140 140 kDa TATA box-binding protein-associated factor;OTTHUMP00000019072;RNA polymerase II transcription factor TAFII140;TAF(II)140;TBP-associated factor 3;transcription initiation factor TFIID 140 kDa subunit;transcription initiation factor TFIID subunit 3 APPROVED protein-coding 17303 606576 VALIDATED 1353856 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008] 8 8 q24.12 120812195 120914255 - 120743014 120845074 - 6480464 7801123;10409744;9418870;9774672;10373431;17081983;16083285;15489334;14702039;14580349;12601814;12477932;11564863;11406595;11337467;10469661;9726987;9054383;8849451;8764062;8764009;8680883;8121496;7933101;7836461;7835343;7680771;14729963;17643375;19240132;19336002;15870300;17967894;20811636;22939629;9765300;21139048;21906983;7597030;16009940;19322201 6873 B3KMD8;E5RI28;H0YB55;H0YC37;H0YEX2;Q6P1X5 ABBA01037818;ABBA01037819;ABBA01037820;ABBA01037821;AC021945;AC107960;AF026445;AF040701;AF057694;AK001618;AK001909;AK316592;AL137601;AMYH01018987;AU098502;BC008473;BC018010;BC035673;BC047732;BC064830;CH471060;NM_003184 AAC02966;AAC13540;AAC68502;AAH35673;AAH47732;AAH64830;AAI46380;BAG38179;BAG50950;BAG50991;CAB70836;EAW91991;EAW91992;EAW91993;NP_003175;Q6P1X5 Hs.122752 1657055;1711032;1721029;1855748;2140197;2219738 G17201;G31435;G59496;SHGC-82884;TAF2_3470;WI-13446 CIF150;TAF2B;TAFII150 150 kDa cofactor of initiator function;OTTHUMP00000228190;RNA polymerase II TBP-associated factor subunit B;TAF(II)150;TAFII-150;TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD;TBP-associated factor 150 kDa;cofactor of initiator function, 150kD subunit;transcription initiation factor TFIID 150 kDa subunit;transcription initiation factor TFIID subunit 2 APPROVED protein-coding ENSG00000064313 11536 07060 604912 REVIEWED 1319196 TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. [provided by RefSeq, Sep 2011] 18 18 q11.2 22060407 22225647 + 23806409 23971649 + 1580863;6480464;6907045 9724652;10849440;9405375;8946909;1939271;2449431;19020761;18206971;16088961;15601843;12477932;11567023;10828057;8858156;18029348;19508998;19635797;20353996;22589738 6875 J3KTH2;Q92750 AB234096;ABBA01022575;ABBA01022576;ABBA01022577;ABBA01022578;ABBA01022579;ABBA01022580;ABBA01022581;AC016839;AC022069;AC121320;AK302593;AMYH01008900;AMYH01008901;AMYH01008902;AY888048;AY888049;BC016360;BC032791;CH471088;NM_005640;Y09321 AAX14897;AAX14898;BAF51561;BAG63845;CAA70499;EAX01218;NP_005631;Q92750 Hs.369519 1696886;2132037;2181444;5126654 RH70966;SHGC-53854;SHGC-64852;g01503rbk TAF2C2;TAFII105 TAF(II)105;TAFII-105;TATA box binding protein (TBP)-associated factor 4B;TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD;transcription initiation factor TFIID 105 kD subunit;transcription initiation factor TFIID 105 kDa subunit;transcription initiation factor TFIID subunit 4B APPROVED protein-coding ENSG00000141384 11538 601689 VALIDATED 1322729 TAF5 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. [provided by RefSeq, Jul 2008] 10 10 q24-q25.2 105117714 105138812 + 105127724 105148822 + 1580863;6480464 12660246;10373431;17996705;17227857;9603525;9045704;9405375;8946909;18029348;15637059;1939271;2449431;15489334;14580349;12601814;12477932;11564863;11406595;9488465;9311784;9054383;8942982;8884287;8849451;8764062;8764009;8758937;8680883;8125298;8121496;7933101;7836461;7835343;9153318;7680771;10523658;21145461;19240132;15899866;17643375;17375202;17967894;22939629;8858156;22323595;15053879;22834489;22696218 6877 Q15542 ABBA01063100;ABBA01063101;ABBA01063102;ABBA01063103;AK223615;AK291229;AL591408;AMYH01003026;AW136916;BC052268;BC136340;BC136348;BG290312;CH471066;NM_006951;U75309;U80191;X95525 AAC50902;AAC51215;AAH52268;AAI36341;AAI36349;BAD97335;BAF83918;CAA64777;EAW49645;EAW49646;NP_008882;Q15542 Hs.96103 1659364 RH47040 TAF2D;TAFII100 OTTHUMP00000020402;TAF(II)100;TAFII-100;TATA box binding protein (TBP)-associated factor 2D;TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD;transcription initiation factor TFIID 100 kD subunit;transcription initiation factor TFIID 100 kDa subunit;transcription initiation factor TFIID subunit 5 APPROVED protein-coding ENSG00000148835 11539 11876 601787 REVIEWED 1350801 TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22.1 101042015 101067533 - 100409897 100434701 - 100523241 100548059 - 6480464 12477932;18029348;17714218;16597641;12665565;11279525;16344560;17643375;21832049;23292864 54457 Q5H9L4 ABBA01044958;ABBA01044959;ABBA01044960;ABBA01044961;ABBA01044962;AF285595;AK026810;AK308261;AL109801;AMYH01022725;BC043391;CH471115;DB042169;DB455298;NG_016220;NM_001168474;NM_024885;Z68331 AAH43391;AAK31974;BAB15560;EAX02847;EAX02848;EAX02849;EAX02850;EAX02851;EAX02852;NP_001161946;NP_079161;Q5H9L4 Hs.223806 1683938;1852111;2142680;2218078;5107165 D20S151;DXS9715;G65769;RH92089;TAF7L_3597 CT40;FLJ23157;TAF2Q;dJ738A13.1 OTTHUMP00000023673;OTTHUMP00000023674;OTTHUMP00000023675;RNA polymerase II TBP-associated factor subunit Q;TATA box-binding protein-associated factor 50 kDa;TBP-associated factor, RNA polymerase II, Q;cancer/testis antigen 40;transcription initiation factor TFIID 50 kDa subunit;transcription initiation factor TFIID subunit 7-like APPROVED protein-coding ENSG00000102387 11548 02259 300314 REVIEWED 1320985 TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 202996790 203029673 - 227795481 227828417 - 229728858 229761794 - 1580863;6480464 12477932;11564863;11406595;11124703;10373431;9674419;12660246;15489334;12601814;9674425;17476304;16829519;16672693;16206511;16126174;22939629;17207965;20211142;17643375;18206972;19615732;15932940;18250150;9885574;20946988;21900206;21987572;21890473;21906983;19322201;22505724 27097 O75529;Q5TDI7 ABBA01009827;ABBA01009828;AF069736;AI251746;AJ009770;AL121990;AMYH01001810;BC001569;BC041094;BE646579;CH471098;NM_001025247;NM_014409 AAC39906;AAH41094;ADQ33004;CAA08816;EAW69902;EAW69903;NP_001020418;NP_055224;O75529 Hs.270621 1683663;1704080;1716273;2142190 G13251;RH103367;RH121164;SHGC-83350 PAF65B OTTHUMP00000037470;OTTHUMP00000037471;PAF65-beta;PCAF associated factor 65 beta;PCAF-associated factor 65 beta;TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L APPROVED protein-coding ENSG00000135801 17304 11619 REVIEWED 4140089 TAF9BP1 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 1 3 3 3 p24.2 25733262 25735912 + 25771297 25773412 + 25796384 25799034 + 246135 ABBA01025016;AC092798;AMYH01013037;NG_001574 pseudo 30687 INFERRED 4140113 TAF9BP2 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 2 10 10 10 q25.3 110257537 110300286 + 116518290 116561085 + 116569132 116571056 + 100130319 ABBA01062972;AL137025;AMYH01003089;NG_028760 1340115;2165980 D10S2390;D10S528 pseudo 38836 INFERRED 1603488 TAF9P1 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 1 Y Y q11.221 18249687 18251066 + 19740293 19741672 + 12815422;9847074 360002 AC007742;AC015978;AC068704;NG_004636 1730035;2188933 DYF79S1;G65983 APPROVED pseudo 31743 VALIDATED 1603487 TAF9P2 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 2 Y Y q11.221 18897554 18898769 - 20438166 20439381 - 12815422;9847074 360003 AC007241;NG_004636 1730035;2188933 DYF79S1;G65983 APPROVED pseudo 31744 VALIDATED 1320845 TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008] 11 11 11 q12.3 59867457 59883398 + 62295451 62311390 + 62538775 62554814 + 1580863;6480464 9674425;18714023;16713569;16189514;15964547;15489334;14702039;12601814;12477932;11564863;11406595;9674419;12660246;17643375;19615732;18400184;9885574;23383273;21139048;21906983 10629 A8K0D4;E9PK90;E9PLV8;E9PP94;Q9Y6J9 ABBA01003244;ABBA01003245;ABBA01003246;AF069735;AK289499;AK301145;AK310054;AK314330;AMYH01003690;AMYH01003691;AP001160;BC008785;CH471076;DC311213;NM_006473 AAC39905;BAF82188;BAG36977;BAG62736;EAW74093;EAW74094;EAW74095;EAW74096;NP_006464;Q9Y6J9 Hs.714400 1671776;1677812;1738141;2130106;2138616;2191193 D11S3762;MARC_16035-16036:1017162020:1;RH66483;RH91818;STS-N52143;STS-W92041 FLJ11136;MGC4288;PAF65A OTTHUMP00000236345;PAF65-alpha;PCAF-associated factor 65 alpha;PCAF-associated factor 65-alpha;TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L;p300/CBP-associated factor (PCAF)-associated factor 65 APPROVED protein-coding ENSG00000162227 17305 04253 602946 REVIEWED 1318181 TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 43570718 43601096 + 42126229 42156622 + 42018251 42048644 + 1580863;6480464 14580349;15870280;14702039;12477932;11963920;11564872;9569032;7933101;7835343;7836461;8849451;8764062;9054383;8764009;8680883;8121496;17375202;17967894;19204726;18029348 129685 B4DZU5;C9J7M8;C9J856;Q7Z7C8 ABBA01050738;AF086309;AF465841;AK057383;AK303097;AL512274;AL513008;AL833401;AMYH01016301;AMYH01016302;BC018796;BC033728;BC119678;BC119679;BI828714;CH471081;NM_138572 AAI19679;AAI19680;AAP47094;BAB71460;BAG64207;EAX04078;EAX04079;EAX04080;NP_612639;Q7Z7C8 Hs.520122 1698472;1700542;5015861;5015867;5015961;5016851;5020948;5022578;5037552;5109281;5120437;7185938 D10S16;D15S1477;D1S1423;D1S1425;D8S2279;G35510;GDB:312714;GDB:315881;RH102785;RH103892;RH80031 43;FLJ32821;II;TAF;TAFII-43;TAFII43;TBN OTTHUMP00000016392;OTTHUMP00000216829;OTTHUMP00000216830;OTTHUMP00000216831;OTTHUMP00000216832;TAF(II)43;TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa;TBP-associated factor 43 kDa;TBP-associated factor 8;TBP-associated factor TAFII43;TBP-associated factor, RNA polymerase II, 43 kD;hTAFII43;protein taube nuss;taube nuss homolog;transcription initiation factor TFIID 43 kDa subunit;transcription initiation factor TFIID subunit 8 APPROVED protein-coding 17300 18167 609514 REVIEWED 1323155 TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] 7 7 q22.1 99542629 99554915 - 99704693 99717481 - 1580863;6480464 7667268;9045704;15328371;15601843;15899866;9603525;9405375;8946909;18029348;1939271;2449431;14580349;18628956;16964243;16344560;15489334;15302935;14702039;12829691;12690205;12601814;12477932;11583621;11564863;11406595;9584164;9177216;9054383;8849451;8764062;8764009;8680883;8262073;8121496;7933101;7836461;7835343;7644498;7597030;826207;12665565;9153318;7680771;10523658;7926747;15641800;15960975;17643375;20096117;20457814;9133630;19240132;11689552;12453419;15099517;9611234;17375202;17846119;17967894;20946988;21832049;22939629;8858156;21139048;9311784;21653943;22323595;22696218;22834489 6878 C9J088;C9J7C4;C9JFL8;C9JHQ8;C9JI39;C9JIS2;C9JTY6;E5RHA1;E5RKA5;F8WEJ7;G8JLM6;J3KR72;P49848 AACC02000084;ABBA01013237;ABBA01013238;AC073842;AK097781;AK300005;AK314428;AK315077;AMYH01017726;AU143362;AY149894;BC018115;BC127819;CH236956;CH471091;CR627390;CX782724;DA150478;DA707589;DA776355;DC339989;L25444;NG_029454;NM_001190415;NM_005641;NM_139315;NR_033792;U31659 AAA63643;AAA84390;AAH18115;AAN10295;ABM82538;ABM85730;BAG53526;BAG61823;CAH10485;EAL23851;EAL23852;EAL23853;EAW76588;EAW76589;EAW76590;EAW76591;EAW76592;NP_001177344;NP_005632;NP_647476;P49848 Hs.489309 1668168;2141173 RH68321;STS-F01487 DKFZp781E21155;MGC:8964;TAF(II)70;TAF(II)80;TAF2E;TAFII-70;TAFII-80;TAFII70;TAFII80;TAFII85 OTTHUMP00000206641;OTTHUMP00000206714;OTTHUMP00000206716;OTTHUMP00000206752;OTTHUMP00000214590;RNA polymerase II TBP-associated factor subunit E;TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD;transcription initiation factor TFIID 70 kDa subunit;transcription initiation factor TFIID subunit 6 APPROVED protein-coding ENSG00000106290 11540 11807 602955 REVIEWED 4109368 TAF9P3 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 3 19 19 19 q12 27221790 27222942 + 35220085 35221037 + 30528148 30529297 + 10191103 163088 ABBA01039560;AC008507;AMYH01009681;NG_001012 1745157 GDB:595828 TAF2GL pseudo 30678 INFERRED 1346933 TAGLN2P1 transgelin 2 pseudogene 1 8 q23.1 107709655 107710268 - 100418887;493620 ABBA01037690;AC090579;AMYH01018952;NG_026067 pseudo 21739 INFERRED 1344353 TAGLN2P2 transgelin 2 pseudogene 2 8 8 p12 30226560 30254863 - 30107021 30107635 - 493621;642319 ABBA01023671;AC090820;AMYH01018618;NG_022383 1786764;2112016;2112268 D8S2136;D8S2252;SHGC-155520 pseudo 31039 INFERRED 1320545 TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008] 5 5 q31 140678241 140680535 - 140698057 140700351 - 1580863;6480464 9488465;8794892;7824954;11592977;18391197;10409738;9603525;12676957;16407123;18029348;17320040;17081983;15489334;15078871;14580349;12477932;11564863;11340078;11230163;11005381;10896937;9632676;9311784;9054383;8849451;8764062;8764009;8702684;8680883;8121496;8012384;7933101;7836461;7835343;12665565;9153318;9045704;15893730;22711989;19240132;15960975;16415881;17643375;20211142;20937824;15099517;15899866;22939629;23027873;11438666;21139048;21890473;21900206;22323595;22424883 6879 Q15545;Q8TBD8 ABBA01026417;AC005618;AF349038;AK314837;AMYH01015661;BC013397;BC022798;BC032737;CH471062;NG_000012;NM_005642;U18062;X97999;Z65839;Z65840 AAB60347;AAH22798;AAH32737;AAK30585;ABM81815;ABM84970;BAG37356;CAA66636;EAW61966;NP_005633;Q15545 Hs.438838 1654264;1680407;2125345;2162496 D5S2599;RH80950;SGC31525;STS-U18062 TAF2F;TAFII55 OTTHUMP00000160028;RNA polymerase II TBP-associated factor subunit F;TAF(II)55;TAFII-55;TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD;TBP-associated factor F;transcription factor IID subunit TAFII55;transcription initiation factor TFIID 55 kDa subunit;transcription initiation factor TFIID subunit 7;transcription initiation factor TFIID, 55 kDa subunit APPROVED protein-coding ENSG00000178913 11541 07196 600573 REVIEWED 1315543 TAL1 T-cell acute lymphocytic leukemia 1 1 1 p32 47454551 47468030 - 47681963 47695443 - 1578342;1580863;6480464 1311214 10383400;2303035;9824680;17474147;19497860;19406989;18550854;18495761;18439091;18436863;18187418;17962192;17910069;17878155;17507663;17503961;17460775;16849639;16778171;16763211;16710414;16621969;16298389;15961517;15923636;15677454;15383276;15086455;14970264;14729962;14715640;14651981;12867998;12239153;12091340;12010791;11904294;11118214;10688671;10490830;9819382;9507011;9171354;9111058;8437851;8423803;8414504;8159721;8084606;8078932;7957052;7833471;7568177;2740341;2602361;2247063;2230650;1964581;1886719;1453013;1450410;1396592;16407974;9242638;8576241;21474105;21407147;19913121;20628086;16007160;12477932;19527627;19587703;19785037;19865112;20028976;9209374;21179004;20603019;20855495;20140202;21571218;7678994;15920471;22310283;22982397;21647153;10866689;21937587;22897851;22773876 6886 E7EVM2;P17542 ABBA01050828;AJ131016;AL135960;AMYH01000593;AMYH01000594;BC144215;CH471059;M29038;M61108;M63589;N71056;NM_003189;S53245;X51990;X58621;X58622;X58623 AAA36598;AAA36599;AAA36600;AAB19683;AAI60033;CAA36246;CAA41476;CAA41477;CAA41478;CAB72103;CAB72254;EAX06875;EAX06876;EAX06877;NP_003180;P17542 Hs.705618 1659091;1671179;1790251;2108955;2156171;2160000;2168903;5014992 D1S3714;G15927;KS609;RH65838;SGC35290;SHGC-74785;SHGC-74795;TAL1_265 SCL;TCL5;bHLHa17;tal-1 OTTHUMP00000009563;OTTHUMP00000009564;T-cell acute lymphocytic leukemia protein 1;T-cell leukemia/lymphoma protein 5;class A basic helix-loop-helix protein 17;stem cell protein;tal-1 product protein-coding ENSG00000162367 11556 01753 187040 VALIDATED 1351331 TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. [provided by RefSeq, Jul 2008] X X X q13.1-q21.1 77626326 77636254 - 77271901 77281835 - 77385245 77395179 - 1580863;6480464 15899866;12837753;16189514;15772651;15489334;12477932;10721692;7761466;17643375;20211142;21832049;22939629;22318606;22505724 51616 Q9HBM6 ABBA01029563;ABBA01029564;AF220509;AK074449;AK312579;AL049589;AMYH01022631;BC009566;BC010350;BC071649;BC146952;BC146960;BI544376;BX276116;CH471104;NG_012570;NM_015975 AAG09711;AAH09566;AAH10350;AAH71649;AAI46953;AAI46961;ABM82854;ABM86041;BAG35473;EAW98600;EAW98601;NP_057059;Q9HBM6 Hs.592248 1665552;5015619 D11S3114;STS-W61008 DN-7;DN7;TAF9L;TAFII31L;TFIID-31 OTTHUMP00000023594;TBP-associated factor 9L;neuronal cell death-related protein 7;transcription associated factor TAFII31L;transcription initiation factor IID, 31kD subunit;transcription initiation factor TFIID subunit 9-like;transcription initiation factor TFIID subunit 9B;transcription-associated factor TAFII31L APPROVED protein-coding ENSG00000187325 17306 06739 300754 REVIEWED 1314621 TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 q11.2-q13.1 68683309 68701596 - 68647553 68665840 - 1580863;5490520;6480464;6907045 16167529 8121496;9674425;11564863;7667268;9045704;15601843;15899866;9405375;8946909;1939271;2449431;19251649;17967894;17081983;16713569;16189514;16169070;16079131;15630091;15489334;15489227;15213396;14580349;12837753;12601814;12477932;11406595;11278372;11005381;10931946;10821850;10810093;10191103;9885574;9054383;8849451;8764062;8764009;8680883;8401585;7933101;7836461;7835343;7809597;7761466;7597030;9153318;12660246;12101418;10449590;15960975;17636026;17643375;19615732;19643037;9171108;19240132;12453419;15081896;15932940;18250150;9611234;15641800;23246961;20946988;21832049;22939629;21139048;21693764;21890473;19471022;17884155;21729782;21963094;21988832;23000965;22053931;22505724;9177216;22696218 6880 D6RDH4;D6RGK3;D6RHW1;D6RIE8;D6RIV9;D6RIY1;Q16594;Q9Y3D8 ABBA01048275;AC145132;AC145145;AF110777;AF151895;AI879232;AJ878880;AJ878881;AMYH01015146;AY189986;BC003400;BC007349;BC007426;BC033320;BG490028;BG720149;BT019652;BX117839;CH471137;NM_001015891;NM_001015892;NM_003187;NM_016283;U21858;U25112;U30504 AAA84389;AAA91318;AAC50153;AAD34132;AAF14860;AAH03400;AAH07349;AAH07426;AAH33320;AAN84793;AAV38458;ACE86721;ACE87407;CAI48030;CAI48031;EAW51290;EAW51291;EAW51292;EAW51293;EAW51294;EAW51295;EAW51296;EAW51297;NP_001015891;NP_001015892;NP_003178;NP_057367;Q16594;Q9Y3D8 Hs.653163 1645777;1656007;1745157;2171644;5117897 G27424;GDB:595828;GDB:631813;SHGC-31594;STS-AA031332 AD-004;AK6;CGI-137;CINAP;CIP;MGC1603;MGC3647;MGC5067;MGC:1603;MGC:3647;MGC:5067;TAF2G;TAFII31;TAFII32;TAFIID32;hCINAP AK/ATPase;ATP-AMP transphosphorylase 6;OTTHUMP00000125186;OTTHUMP00000125196;OTTHUMP00000222137;OTTHUMP00000222138;OTTHUMP00000222139;OTTHUMP00000222140;OTTHUMP00000222141;OTTHUMP00000222142;OTTHUMP00000222143;OTTHUMP00000223056;RNA polymerase II TBP-associated factor subunit G;STAF31/32;TAFII-31;TAFII-32;adenylate kinase 6;adenylate kinase isoenzyme 6;adrenal gland protein AD-004;coilin interacting protein;coilin-interacting nuclear ATPase protein;dual activity adenylate kinase/ATPase;transcription initiation factor TFIID 31 kD subunit;transcription initiation factor TFIID 31 kDa subunit;transcription initiation factor TFIID 32 kDa subunit;transcription initiation factor TFIID subunit 9 APPROVED protein-coding ENSG00000085231 11542 15983 600822 VALIDATED 1353384 TALDO1P1 transaldolase 1 pseudogene 1 1 1 1 p32.3 53277753 53278581 + 54990059 54990887 + 54990059 54990887 + 9339383;9119412;8300619 6889 ABBA01074714;AC099796;AMYH01000636;NG_009424 TAL-H;TALDO;TALDOP1 APPROVED pseudo 11560 INFERRED 1318496 TAGAP T-cell activation RhoGTPase activating protein This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013] 6 6 q25.3 159376012 159386172 - 159456024 159466184 - 1580863;6480464 19240061;19073967;18805825;18356936;18311140;16375659;15489334;15177553;14702039;14574404;12477932;22127930;20647273;21102463;19693089;19898481;20190752;17207965;20854658;21298027;23044675;21390051;21833088;22190364;23128233;16344560 117289 Q8N103 ABBA01021072;AF385429;AF385430;AK025272;AK057193;AK097090;AL035530;AL832662;AMYH01016796;BC015859;BC111731;CH471051;DA819174;HI574104;HI574106;HI574108;NG_011524;NM_001278733;NM_054114;NM_138810;NM_152133 AAH15859;AAI11732;AAM43830;AAM43831;ADQ31625;BAB71378;BAC04947;CBX47541;CBX47542;CBX47543;EAW47637;EAW47638;EAW47639;NP_001265662;NP_473455;NP_620165;NP_687034;Q8N103 Hs.529984 2177451;2218080 RH66776;TAGAP_3287 ARHGAP47;FKSG15;FLJ32631;FLJ39771;IDDM21;MGC133247;MGC27381;TAGAP1 OTTHUMP00000017514;OTTHUMP00000017515;OTTHUMP00000017516;T-cell activation GTPase-activating protein;T-cell activation Rho GTPase-activating protein APPROVED protein-coding ENSG00000164691 15669 18143 609667 REVIEWED 1348892 TAGLN3 transgelin 3 3 3 3 q13.2 110116666 110131815 + 113200276 113215425 + 111717586 111732735 + 68819;634083;1580863;6480464 8015377;11238712 15781144;15489334;14506410;12477932;12107411;10931946;17207965;22939629;21139048 29114 C9J5W6;C9JCX3;H7C5N2;Q9UI15 ABBA01061669;AC060225;AF087855;AF112201;AF303058;AK315289;AMYH01013389;BC015329;BG912462;BI752099;BI822856;BI919263;BM894229;BQ640029;BT007408;CH471052;CK003985;NM_001008272;NM_001008273;NM_013259 AAF17189;AAH15329;AAL09330;AAP36076;AAP97165;ADQ32423;EAW79685;EAW79686;EAW79687;NP_001008273;NP_001008274;NP_037391;Q9UI15 Hs.169330 1685786 RH79989 NP22;NP25 OTTHUMP00000214655;OTTHUMP00000214656;OTTHUMP00000214657;OTTHUMP00000214660;neuronal protein 22;neuronal protein NP25;transgelin-3 protein-coding ENSG00000144834 29868 12136 607953 VALIDATED 11324 TAGLN transgelin The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 q23.2 116575250 116580718 + 117070040 117075508 + 1578340;1580863;6480464;6484113 15044321 17353931;9615232;19329940;19011151;18446369;18291675;18245174;17629319;17305610;17082327;15489334;12521938;12477932;12200029;11773051;11053353;9384215;9276683;9242426;8125298;8117285;7788527;1872880;1520290;23138394;20012321;19913121;20628086;18378184;19188659;19724680;19796641;19848416;20066125;20098441;20379614;20540360;20336793;20707403;20705054;21092460;21763649;22939629;21051832;22245152;21139048;21943158;16009940;21044950;21677441;22257561;23331552;22365974 6876 E9PJ32;H0YCU9;Q01995;Q5U0D2 AB209555;ABBA01039737;AC022760;AF013711;AI817828;AK223002;AK314043;AMYH01004061;AP000761;AP000892;AP005018;BC004927;BC010946;BC024296;BC041624;BC065829;BC092415;BC093050;BI830888;BT019648;BT019649;BX640723;CH471065;CR536484;CR541681;CR749612;D17409;D84342;EF445005;EF445034;M83106;M95787;NM_001001522;NM_003186;U73638 AAA58351;AAA58375;AAC21582;AAH04927;AAH10946;AAH65829;AAH92415;AAH93050;AAV38454;AAV38455;ACA06038;ACA06079;ACA06080;ACE86803;ACE87490;BAA21811;BAA21839;BAD92792;BAD96722;BAG36752;CAG38723;CAG46482;CAH18406;EAW67298;EAW67299;EAW67300;EAW67301;EAW67302;NP_001001522;NP_003177;Q01995 Hs.410977 1643922;1769534;1773929;1848049;2148116;2148118;2189501;2191785;5022043 D11S4352;D11S4428;MARC_7595-7596:996687990:1;MARC_7597-7598:992008547:1;RH18036;RH47219;SHGC-34343;STS-M95787;Tagln DKFZp686B01212;DKFZp686P11128;SM22;SMCC;TAGLN1;WS3-10 22 kDa actin-binding protein;OTTHUMP00000234990;OTTHUMP00000234991;OTTHUMP00000234992;OTTHUMP00000234994;OTTHUMP00000234995;OTTHUMP00000234996;SM22-alpha;smooth muscle protein 22-alpha;transgelin;transgelin variant 2 APPROVED protein-coding ENSG00000149591 11553 02891 600818 REVIEWED 1321972 TAGLN2 transgelin 2 The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013] 1 1 1 q21-q25 132956342 132963724 - 158154527 158161908 - 159887903 159895284 - 1580863;6480464 17353931;16710414;16021519;15489334;12665801;12477932;10942595;9693045;9110174;8619474;7788527;21319273;21378409;20736409;19848416;18029348;19615732;21832049;22939629;22990118;19135240;20360068;21577206;19471022;21139048;21890473;21906983;21628590;17676665;22365974;22626270;22766685;23504277;8889548 8407 P37802 ABBA01016617;AI270594;AJ844624;AK291562;AK298654;AL513485;AMYH01001448;AY007127;BC002616;BC009357;CD051174;CF128621;CH471121;CR542126;CR542136;D21261;GU727636;NM_001277223;NM_001277224;NM_003564 AAG01993;AAH02616;AAH09357;ABM82841;ABM86026;ADU87638;BAA04802;BAF84251;BAH12838;CAG46923;CAG46933;EAW52759;EAW52760;EAW52761;EAW52762;EAW52763;NP_001264152;NP_001264153;NP_003555;P37802 Hs.517168 1682381;1689141;1729099;1858229;5124121 D8S1914;RH25344;RH68227;RH68257;Tagln2 HA1756;KIAA0120 OTTHUMP00000024407;OTTHUMP00000024408;OTTHUMP00000024409;OTTHUMP00000024410;SM22-alpha homolog;epididymis tissue protein Li 7e;transgelin-2 APPROVED protein-coding ENSG00000158710 11554 06864 604634 REVIEWED 1351744 TAL2 T-cell acute lymphocytic leukemia 2 This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009] 9 9 9 q32 78929895 78930550 + 107464599 107464925 + 108424738 108425393 + 1599285;1580863;6480464 1763056 15489334;15164053;12567187;12477932;8152805;7957052;1450410;9242638;19448620;20211142;22589738;21971700;20125193 6887 Q16559 AA767775;ABBA01042813;AL158070;AMYH01021602;BC069422;BC126373;BC126375;CH471105;M81078;NM_005421;S69377 AAA60613;AAC60629;AAH69422;AAI26374;AAI26376;ADR82810;EAW59002;NP_005412;Q16559 Hs.247978 2107655;2126681;2220422 TAL2_7884;UniSTS:481740;UniSTS:494824 OTTHUMP00000021840;T-cell acute lymphocytic leukemia protein 2;TAL-2;class A basic helix-loop-helix protein 19 APPROVED protein-coding ENSG00000186051 11557 01735 186855 REVIEWED 1603312 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17 17 17 q23.3 55475137 55893299 + 58440630 58858799 + 61086898 61505067 + 6480464 10997877;14702039;10574461;12477932;22360420 26115 J3KRP9;J3KTM5;J3QQY7;J3QRF0;Q9HCD6 AB032974;AB046856;ABBA01035332;ABBA01035333;ABBA01035334;ABBA01035335;AC005828;AC005972;AC006270;AC015923;AC037445;AJ278120;AK001077;AK021886;AMYH01008548;BC144357;NM_025185 AAI72364;BAA86462;BAB13462;CAB92314;NP_079461;Q9HCD6 Hs.410889 1341417;1688925;1689013;1695166;1710878;1736702;1773737;1775428;1846869;2122918;2155515;2158848;2163295 D17S1520E;D17S1658;D17S2141;D17S944;G29280;G48223;RH36028;RH36316;RH65819;RH91989;RH92289;SHGC-84218;STS-R63740 DKFZp564D166;FLJ10215;FLJ11824;KIAA1148;KIAA1636;ROLSA;rols protein TANC2;putative ankyrin-repeat containing protein;rolling pebbles homolog B;tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2 protein-coding ENSG00000170921 30212 615047 VALIDATED 1604561 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 2 2 2 q24.2 153441921 153703650 + 159533392 159797416 + 159825146 160089170 + 6480464 14702039;12477932;12107410;11214970;16344560;15673434;21658281;21739571;21139048 85461 B9EK39;Q9C0D5 AA773835;AB051515;ABBA01004858;ABBA01004859;ABBA01004860;AC009307;AC010093;AK000401;AK023422;AK094285;AK123161;AK128859;AK308899;AL833258;AMYH01011204;BC037329;BC150597;BX648238;BX648327;CA394398;CH471058;DA226268;NM_001145909;NM_033394 AAH37329;AAI50598;BAB21819;EAX11417;EAX11418;NP_001139381;NP_203752;Q9C0D5 Hs.61590 1340229;1688618;1708492;1718441;1718481;1719263;1723235;2116495;2141380;2172220;5022578 D1S1423;D2S1757;D2S2370;D2S2866;RH122301;RH122421;RH122442;RH123353;RH99080;SHGC-79488;STS-AA031631 FLJ13360;FLJ41166;KIAA1728;ROLSB;TANC OTTHUMP00000204699;TPR domain, ankyrin-repeat and coiled-coil-containing;protein TANC1;rolling pebbles homolog B;tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1 protein-coding ENSG00000115183 29364 18146 611397 VALIDATED 733188 TALDO1 transaldolase 1 Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008] 11 11 p15.5-p15.4 737432 755024 + 747432 765024 + 737673;1599574;1599293;1580863;1641814;1300048;1641803;6480464;6907045;7240710 9339383;2843500;11283793;12721358;8477719 15231747;9524206;16130169;18805652;18687684;18498245;18331807;17603756;17503352;17095351;17081983;16092052;15489334;15383276;14702349;12477932;10869557;10702296;9119412;8300619;7964452;21319273;20194725;20600873;21062960;22863883;18781797;21139048;21890473;21906983;19738201;21963094;22053931;23000965;19471022;21044950;22510381;22939629 6888 E9PKI8;E9PM01;F2Z393;P37837 ABBA01015208;ABBA01015209;AF010398;AF010399;AF010400;AF058913;AK295537;AK313427;AMYH01003294;AMYH01003295;AP006621;BC009680;BC010103;BC018847;CH471158;L19437;L27346;NG_008160;NM_006755;U62747 AAB53943;AAC51151;AAC52068;AAF40478;AAH10103;AAH18847;AAL31313;BAG36219;BAG58447;EAX02377;EAX02378;EAX02379;NP_006746;P37837 Hs.438678 1737665;1754077;2153887;2173763 D11S3271;RH36444;SHGC-12900;SHGC-132114 TAL;TAL-H;TALDOR;TALH OTTHUMP00000164441;OTTHUMP00000229014;dihydroxyacetone transferase;glycerone transferase;transaldolase APPROVED protein-coding ENSG00000177156 11559 03640 602063;606003 REVIEWED 1602301 TAMM41 TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 3 3 3 p25.2 11767171 11823599 - 11806919 11863352 - 11831919 11888352 - 6480464 12477932;11230166;15489334;14702039;20379614;21314694;20877624 132001 B4DIY7;B4E101;C9J2U4;G3V0F3;H7C1A2;Q96BW9 ABBA01025211;ABBA01025212;AC090939;AC090958;AK092776;AK126587;AK295839;AK303598;AK309733;AK310993;AL136788;AMYH01012979;BC015088;CH471055;FB336607;HH767946;NM_138807 AAH15088;ACE86998;ACE87687;BAG58649;BAG64613;CAR81248;CBX84726;EAW64108;EAW64109;EAW64110;EAW64111;EAW64112;EAW64113;EAW64114;NP_620162;Q96BW9 Hs.475472 1672691;2124056;5021357 RH16544;SHGC-33256;SHGC-76720 C3orf31;DKFZp434E0519;MGC16471;RAM41;TAM41 MMP37-like protein, mitochondrial;OTTHUMP00000160158;OTTHUMP00000207657;OTTHUMP00000209386;mitochondrial translocator assembly and maintenance protein 41 homolog APPROVED protein-coding ENSG00000144559 25187 14452 614948 PROVISIONAL 1606461 TANGO2 transport and golgi organization 2 homolog (Drosophila) 22 22 22 q11.21 3859834 3904651 + 18388631 18433447 + 20008631 20053447 + 6480464 19322201;15489334;15461802;14702039;12477932;22939629 128989 A8MWT1;B7WNV6;B7Z583;B7Z6W2;B7Z730;C9J695;C9JC99;C9JDT9;C9JKN2;F8WDT9;Q6ICL3 ABBA01005396;ABBA01005397;ABBA01005398;AC005663;AC006547;AK092484;AK289862;AK295210;AK297075;AK297922;AK298593;AK301054;AK301366;AK309398;AK311676;AK316020;AK316056;AL713640;AMYH01012483;BC041339;CH471176;CR456355;CR627452;NM_152906 AAH41339;BAC03902;BAF82551;BAH12013;BAH12491;BAH12691;BAH12819;BAH13398;BAH13466;BAH14391;BAH14427;CAD28454;CAG30241;CAH10533;CAK54496;CAK54795;EAX03001;EAX03002;EAX03003;EAX03004;EAX03005;EAX03006;NP_690870;Q6ICL3 Hs.474233 1683611;1734282;2112416;5017433;5023273;5024761;5037552;5093002 A009D48;D22S1602;D22S933;D8S2279;G32462;RH36905;RH93311;STS-T76997 C22orf25;DKFZp761P1121 OTTHUMP00000197694;OTTHUMP00000197696;OTTHUMP00000197697;OTTHUMP00000197727;OTTHUMP00000197729;OTTHUMP00000197731;OTTHUMP00000198369;hypothetical protein LOC128989;transport and Golgi organization 2 homolog;transport and Golgi organization protein 2 homolog;uncharacterized protein C22orf25 APPROVED protein-coding ENSG00000183597 25439 13229 VALIDATED 1606243 TANGO6 transport and golgi organization 6 homolog (Drosophila) 16 16 16 q22.1 53386815 53628410 + 67435010 67676586 + 68877509 69119085 + 6480464 14702039;12477932;11214970;12421765;22939629;21963094;22053931;21906983 79613 B3KTB6;J3KT80;J3QL82;Q9C0B7 AB051533;ABBA01025506;ABBA01025507;ABBA01025508;ABBA01025509;ABBA01025510;ABBA01025511;ABBA01025512;ABBA01025513;AC009027;AC009082;AC009137;AK022750;AK095333;AMYH01007763;BC001813;BC001839;BC015617;BC092500;BQ005531;CH471092;NM_024562 BAB14224;BAB21837;BAG53028;EAW83246;NP_078838;Q9C0B7 Hs.13526 1335963;1339318;1651227;1657317;1755917;1769411;1769440;2170999;2220576;5016478;7184479 D16S3067;D16S3322;D16S496;G17913;GDB:434012;SHGC-142749;SHGC-6072;SHGC-61165;T03595;UniSTS:485528 FLJ12688;KIAA1746;TMCO7 transmembrane and coiled-coil domain-containing protein 7;transmembrane and coiled-coil domains 7;transport and Golgi organization 6 homolog;transport and Golgi organization protein 6 homolog APPROVED protein-coding ENSG00000103047 25749 VALIDATED 1351729 TAOK2 TAO kinase 2 This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 16 16 16 p11.2 72792142 72810504 - 29892723 29911082 + 29985188 30003582 + 1299457;6480464;6484113;6907045;7240533 9786855;20626350 10660600;18029348;19242545;17158878;16893890;14702039;13679851;12975309;12665513;12639963;12477932;12421765;11279118;10497253;10048485;17396146;15146197;15342556;23585562;21139048;21906983;22683681 9344 Q9NSW2 AB020688;ABBA01013110;AC093512;AF061943;AF263313;AI805725;AK057589;AK291473;AK304446;AL137701;AMYH01007497;AY358942;BC015204;BC031825;BC051798;BC054495;BC136653;BC136655;BC142663;BC144344;BC151221;BC152413;BP233788;CH471238;CN286840;NG_030462;NM_001252043;NM_004783;NM_016151 AAD45616;AAG38503;AAH15204;AAH31825;AAH51798;AAI36654;AAI36656;AAI42664;AAI44345;AAI51222;AAI52414;AAQ89301;BAA74904;BAF84162;BAG65265;CAB70882;EAW79963;EAW79964;EAW79965;NP_001238972;NP_004774;NP_057235;Q9UL54 Hs.291623 1687223;1698924 RH103031;RH99036 KIAA0881;MAP3K17;PSK;PSK1;PSK1-BETA;TAO1;TAO2 OTTHUMP00000162989;OTTHUMP00000162990;PSK-1;hKFC-C;kinase from chicken homolog C;prostate derived STE20-like kinase PSK;prostate-derived STE20-like kinase 1;prostate-derived sterile 20-like kinase 1;serine/threonine-protein kinase TAO2;thousand and one amino acid protein 2;thousand and one amino acid protein kinase;thousand and one amino acid protein kinase 2 APPROVED protein-coding ENSG00000149930 16835 18147 613199 REVIEWED 734196 TANK TRAF family member-associated NFKB activator The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] 2 2 q24-q31 161701712 161800928 + 161993466 162092683 + 1580863;6480464;6907045 12005438;8710854;17823124;17568778;17327220;17081983;16336209;16189514;15489334;14743216;14517219;14499357;12477932;12133833;11279055;10759890;10581243;10490605;8855313;15327770;17878343;20184394;22261722;22330071;19913121;20628086;21212807;19262425;19453261;19573080;19773279;20331378;20562859;20484576;16914100;20568250;20644899;21832049;23286385;21625535;22589738;21903422;22310353;20972266;21139048;21890473;21906983;22225470;17468758;21963094;21988832;23251661;23372041;23509613;23524849;22079989;22505724;23007157 10010 B2R7S3;E7EM55;E7EMT6;E7ENY2;E7EQA9;E7ERM9;E7EV32;E7EVA2;E7EW82;E7EWR8;E9PEK1;H7BZ28;H7C3L4;Q6NW12;Q92844 ABBA01004880;ABBA01004881;ABBA01004882;ABBA01004883;AC009299;AC009313;AC078943;AK313096;AMYH01011212;BC003388;BC067779;BT009855;CH471058;NM_001199135;NM_004180;NM_133484;U59863;U63830 AAC50681;AAC50770;AAH03388;AAH67779;AAP88857;AAX88939;AAY14785;BAG35920;EAX11374;EAX11375;EAX11376;EAX11377;NP_001186064;NP_004171;NP_597841;Q92844 Hs.132257 1652551;1691008;1691010;1708252;1734988;2106685;2155972;2157106;2163451 A004C35;A008B36;D2S1727E;RH36437;RH46464;RH91209;RH93471;SHGC-79389;TANK_3754 I-TRAF;ITRAF;TRAF2 OTTHUMP00000162915;OTTHUMP00000200692;OTTHUMP00000200693;OTTHUMP00000200694;OTTHUMP00000200695;OTTHUMP00000200696;OTTHUMP00000200698;OTTHUMP00000200700;OTTHUMP00000200703;OTTHUMP00000200704;TRAF family member-associated NF-kappa-B activator;TRAF-interacting protein;traf family member-associated nf-kappa b activator APPROVED protein-coding ENSG00000136560 11562 04870 603893 REVIEWED 7247806 TAPSAR1 TAP1 and PSMB8 antisense RNA 1 19913121;20628086 100507463 ABBA01038132;AL669918;AL671681;AL935043;AMYH01016239;BI906764;BU539272;BX088556;BX927138;CK904130;CR753889;CR762476;CR933844;CR977230;CT009502;NG_028165;NR_037173;NR_037174;NR_037175;NR_037176 Hs.731555 PSMB8-AS1;TAP1-AS1 miscrna ENSG00000204261 39758 VALIDATED 1351422 TAOK1 TAO kinase 1 17 17 q11.2 24742069 24895628 + 27717943 27878921 + 6480464;6484113;6907045;7240533 20626350 12477932;14517247;19110211;18216281;17900936;17417629;17396146;17081983;16964243;16407310;15302935;14976552;14702039;13679851;12107410;10737800;10718198;10497253;9786855;21963094;23455922;23585562;18029348;19820697;19904549;8889548;20162290;20562859;16893890;22939629;22423221;21139048;21900206;21906983;22075148;22505724;22139419 57551 J3QS76;Q7L7X3 AB037782;ABBA01015016;ABBA01015017;ABBA01015018;ABBA01015019;ABBA01015020;ABBA01015021;ABBA01015022;ABBA01015023;ABBA01015024;AC068025;AC068588;AC090698;AF263312;AK024376;AK025902;AL110163;AL833649;AMYH01008289;AMYH01008290;AY049015;BC024166;BC032793;BC037535;BC037740;BC047652;BC051737;BC062764;BC133039;BC144067;BE772351;CA395289;CH471159;CK300429;CQ834802;NM_020791;NM_025142 AAG38502;AAI33040;AAI44068;AAL12217;BAA92599;BAB14901;CAH05616;EAW51188;EAW51189;EAW51190;NP_065842;NP_079418;Q7L7X3 Hs.597434;Hs.735869 1339465;1666608;1670954;1676796;1700742;1739483;1763175;2111053;2116885;2166177;5014003;5014039;5014051;5015404;5015621;5020946;5022200;5022463;5022578;5022651;5024272;5024413;5037552;5117897 Cdy1df02;D11S2921;D11S3732;D17S1136;D17S1699;D17S1841;D17S892E;D1S1423;D22S1584;D2S1254;D3S1673;D8S2278;D8S2279;G29217;GDB:631813;L17705;L17877;L17971;L18426;RH103996;RH12393;RH47925;SHGC-146905;SHGC-32000 FLJ14314;KFC-B;KIAA1361;MAP3K16;MARKK;PSK-2;PSK2;TAO1;hKFC-B;hTAOK1 MARK Kinase;STE20-like kinase PSK2;hKFC-B;kinase from chicken homolog B;microtubule affinity regulating kinase kinase;prostate-derived STE20-like kinase 2;prostate-derived sterile 20-like kinase 2;serine/threonine kinase TAO1;serine/threonine protein kinase TAO1 homolog;serine/threonine-protein kinase TAO1;thousand and one amino acid protein 1;thousand and one amino acid protein kinase 1 protein-coding ENSG00000160551 29259 15467 610266 VALIDATED 736475 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. [provided by RefSeq, Jul 2008] 6 6 p21.3 32920964 32929726 - 32812986 32821748 - 1331525;1580863;2312370;2312369;2312371;2312373;5147844;5147845;5147840;5147842;5147846;6480464;6482260;6482272;6482278;6482249;6482250;1578361;6482251;6482262;6482266;6482277;6482248;6482274;6907045;7240710 15118671;9300732;9458110;9129974;1300236;14976605;12640628;18342853;17245734;10618282;18248301;12648582;7748224;19492245;19480848;16112028;19217216;17982230;15887980;9014588;21843574;12018331 19404951;19297616;17055437;11133832;1946428;19387463;19343046;19263211;19258923;19247692;19202550;19188174;19148137;18764808;18694960;18433405;18385764;18380807;18199642;18191725;18071882;17947644;17940597;17917315;17875943;17703412;17649665;17581627;17525827;17498556;17491658;17418234;17382375;17164240;17068338;16956670;16923719;16864587;16731921;16691491;16640035;16634865;16604487;16407277;16356928;16216677;16215317;16191421;16189514;16174096;16061226;15905524;15897556;15778351;15711027;15686587;15548263;15488952;15343265;15336779;15322097;15306733;14749980;14702039;14694183;14679198;14551602;12911283;12878362;12857899;12827444;12786997;12777979;12777379;12729048;12687213;12682044;12648282;12648225;12645939;12634240;12594855;12582163;12539042;12507827;12505156;12485523;12477932;12234057;12225333;12213826;12047361;12026214;11960305;11788900;11775239;11774612;11737038;11591192;11532960;11381133;11250044;11250043;11194890;11169396;11157746;11096258;10508608;10227971;10074494;9774463;9545232;9310490;9175839;9103419;8955196;8805302;8670825;8640228;8568858;8458375;8453065;8248212;8168860;2342577;2259384;2259383;1570316;1529427;1453454;11884415;20820776;19913121;20628086;20673868;12047747;14558951;1538751;15518576;15577206;16828748;19439551;19549407;19609238;19808685;19851445;19953286;20134267;20193774;20204276;20230813;20450707;20452482;20470844;20503287;20525414;7538543;7673167;20877624;20141545;21399633;21207025;21205905;21098634;21362330;22939629;21914809;22025554;22002058;22031944;21796142;21890473;21906983;23682387;22298786;22065046;22684063;23302073;21988832;22989262;23272491;23340176;22932452;22638925 6890 B1AZV3;F5H648;Q03518 AB012644;AB012645;ABBA01038132;AF492485;AK123494;AK130176;AK302340;AK313762;AL669918;AL671681;AL935043;AMYH01016239;AY349134;AY523970;AY523971;BC014081;BX088556;BX648013;BX927138;CH471081;CR753889;CR762476;CR933844;L21204;L21205;L21206;L21207;L21208;NG_011759;NM_000593;S70256;S70260;S70266;S70274;S70277;U07197;U07198;U16763;X57521;X57522;X66401;X87344 AAA89080;AAB60321;AAB60322;AAC12902;AAC12903;AAC12904;AAC12905;AAC12906;AAD14054;AAD14055;AAD14056;AAH14081;AAM11658;AAR05812;AAS55411;AAS55412;ABM87349;ABW03876;BAA32813;BAA32814;BAG36500;BAH13680;CAA40740;CAA40741;CAA47025;CAA60785;EAX03646;EAX03647;EAX03648;EAX03649;EAX03650;EAX03651;EAX03652;NP_000584;Q03518 Hs.352018 1650655;1743051;1769403;1790677;1791590;1855746;2106343;2106345;2132926;5022200;5022651;5120630;5120670 BARC0051;D11S2921;D6S2042;D6S2820;D6S2874;GDB:250900;GDB:362795;GDB:365643;L18426;PMC115886P1;RH46725;RH69680;RH70842 ABC17;ABCB2;APT1;D6S114E;FLJ26666;FLJ41500;PSF-1;PSF1;RING4;TAP1*0102N;TAP1N ABC transporter, MHC 1;ATP-binding cassette sub-family B member 2;ATP-binding cassette, sub-family B (MDR/TAP), member 2;OTTHUMP00000029077;PSF-1;antigen peptide transporter 1;peptide supply factor 1;peptide transporter PSF1;peptide transporter TAP1;peptide transporter involved in antigen processing 1;really interesting new gene 4 protein;transporter associated with antigen processing;transporter, ATP-binding cassette, major histocompatibility complex, 1 APPROVED protein-coding ENSG00000168394 43 01359 170260;604571 REVIEWED 1349936 TAPVR1 total anomalous pulmonary venous return 1 7240710 6893 11567 1605388 TAOK3 TAO kinase 3 12 12 12 q 118218692 118443700 - 117071989 117295133 - 118587606 118810750 - 6480464;6484113;6907045 10559204;10924369;16344560;15489334;14996095;14702039;13679851;12477932;11278723;17396146;17478428;18029348;20379614;20949042 51347 F5GWV8;F5GX96;F5GY38;F5H005;F5H0M3;F5H1I2;F5H3L7;F5H5C7;F5H5E0;F5H7G4;G3V1Q8;H0YF68;Q9H2K8 AA744362;ABBA01020051;ABBA01020052;ABBA01020053;ABBA01020054;ABBA01020055;ABBA01020056;ABBA01020057;ABBA01020058;ABBA01020059;AC026366;AC026367;AC073596;AF135158;AF161373;AF179867;AF181985;AF263311;AF328731;AI057643;AK056370;AK289558;AL833460;AL833731;AMYH01004786;BC002756;BT007185;CH471054;DB066061;HH961884;NM_016281 AAF14559;AAF25817;AAF28933;AAG09131;AAG38501;AAH02756;AAN09723;AAP35849;ABM81622;ABM84807;BAF82247;BAG51691;CAH56239;CBX51415;EAW98124;EAW98125;NP_057365;Q9H2K8 Hs.644420 1648234;1663486;1720111;1746945;1749867;1776436;1853557;2145841;2152103;2155510;2175206;5093678;5110952 A009U43;D12S1181E;D12S1408;D12S1864;G32859;G64847;RH123797;RH65671;RH70366;SGC33521;SHGC-111595;STS-T95105;STS-W56792 DKFZp666H245;DPK;FLJ31808;JIK;MAP3K18 CTCL-associated antigen HD-CL-09;JNK/SAPK-inhibitory kinase;OTTHUMP00000239670;OTTHUMP00000239671;STE20-like kinase;cutaneous T-cell lymphoma-associated antigen HD-CL-09;dendritic cell-derived protein kinase;hKFC-A;jun kinase-inhibitory kinase;kinase from chicken homolog A;serine/threonine-protein kinase TAO3;thousand and one amino acid protein 3 protein-coding ENSG00000135090 18133 11620 VALIDATED 1317352 TAPBPL TAP binding protein-like Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008] 12 12 12 p13.31 8178068 8188377 + 6431438 6441749 + 6561177 6571488 + 737633;1580863;6480464 12477932 15340161;19204726;18340469;16344560;15489334;14702039;11920573;8125298;19773279;21362330 55080 G3V1T3;Q9BX59 ABBA01017642;AC005840;AI184901;AI273155;AK001005;AK002056;AK098035;AK222956;AK223163;AMYH01004203;BC015017;CH471116;CR997450;CS072294;DB054664;NM_018009 AAH15017;ADR82769;BAA91465;BAB41077;BAD96676;BAD96883;CAI93432;EAW88797;EAW88798;EAW88799;NP_060479;Q9BX59 Hs.504597 1656391;1663248;2137196;2182435;2218100 D12S1215E;RH17725;RH44502;TNFRSF7_2819;WI-7129 FLJ10143;TAPBP-R;TAPBPR OTTHUMP00000238559;TAP binding protein related;TAP-binding protein-like;TAP-binding protein-related protein;TAPASIN-R;tapasin-like;tapasin-related protein APPROVED protein-coding ENSG00000139192 30683 06153 607081 VALIDATED 1353285 TARBP2P TAR (HIV-1) RNA binding protein 2 pseudogene 8 8 8 q22.3 100857960 100859304 + 104739083 104741639 + 104671472 104672816 + 11060498;7774957;2011739 6896 ABBA01037642;AC007751;AF197477;AMYH01018944;NG_001199 TRBP tar (hiv) rna binding protein 2 pseudogene pseudo 11570 INFERRED 735382 TAPBP TAP binding protein (tapasin) This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 p21.3 33375449 33389967 - 33267471 33282164 - 1599296;1580863;6480464;6907045;7240710 12149238 10382748;12788224;9238042;9271576;11884415;19217216;19167761;19119025;18694960;18261958;18248301;18196518;18039656;17498802;17389020;16322289;16193070;15743475;15634919;15489334;15455354;15163903;14978101;14668790;14607930;14574404;14519625;13678524;12682852;12594855;12582157;12477932;12463753;12213826;12200052;12018464;11972874;11970875;11862402;11823531;11132161;10636848;10508608;10088603;9802609;9545376;9545232;9521053;9110174;8805302;8769474;8619474;20070606;12047747;16344560;16828748;17055437;17947644;19701894;19728311;19776380;19851445;20017190;20532727;17207965;21248040;21518758;20600451;21139048;21890473;21987572;19322201;17170699;21963094;22923333;23000965;22505724 6892 A2AB90;C9JA35;D3YTI9;Q5HYV0;Q6P1N7;Q9UEE0 AB010639;AB012622;AB012920;ABBA01038140;ABBA01038141;AF009510;AF029750;AF067286;AF314222;AL662820;AL662827;AMYH01016243;AU117273;AW028178;AW451052;AY007154;BC064966;BC080574;BI523615;BX248088;CH471081;CR759786;CR759817;EU693375;NG_009876;NM_003190;NM_172208;NM_172209;Y13582;Z97183 AAB82949;AAC20076;AAD32924;AAG33061;AAH64966;AAH80574;ACD68200;ADQ32063;BAA28757;BAA28758;BAA28759;CAA73909;EAX03715;EAX03716;EAX03717;EAX03718;EAX03719;EAX03720;NP_003181;NP_757345;NP_757346;O15533 Hs.370937 1676436;1676682;1739679;1769932;2108673;2154271;2180771;2181737;5014051;5015619;5016478;5020946;5022200;5022651;5024272;5037552 D11S2921;D11S3114;D2S1254;D6S1534E;D6S1891;D8S2278;D8S2279;GDB:434012;L17971;L18426;RH37250;RH93285;RH98925;STS-H95651;STS-W74659;ZNF297_8921 NGS17;TAPA;TPN;TPSN;tapasin NGS-17;OTTHUMP00000029102;OTTHUMP00000178697;OTTHUMP00000178698;OTTHUMP00000178699;OTTHUMP00000215400;TAP-associated protein;TAP-binding protein;tap binding protein;tapasin APPROVED protein-coding ENSG00000231925 11566 09061 601962;604571 REVIEWED 1343582 TARDBPP1 TAR DNA binding protein pseudogene 1 20 20 20 p12.3 6251410 6254078 - 6129636 6130838 - 6180245 6182913 - 643503 ABBA01053902;AL359954;AMYH01011696;CH471133;NG_009903 EAX10391 TARDBPL;bA318P23.1 APPROVED pseudo 16536 INFERRED 5130653 TARDBPP2 TAR DNA binding protein pseudogene 2 13 13 13 q21.2 41801589 41808459 + 59741338 59748371 + 60843438 60850271 + 440142 ABBA01050212;AL359920;NG_005965 pseudo 39848 INFERRED 3399181 TARM1 T cell-interacting, activating receptor on myeloid cells 1 19 19 19 q13.42 51612866 51624307 - 59265069 59276421 - 54573201 54584634 - 6480464 19050727 441864 B6A8C7 ABBA01068176;ABBA01068177;AC012314;AK301730;AMYH01009976;DQ479398;NM_001135686 ABF19808;B6A8C7;BAG63196;NP_001129158 Hs.694674 1743345;1818576;1820986;1828142;1833948;1840108;1842050;1844384;1846192;1846282;2040772;2040774;2040776;2040778;2040780;2040782;2040784;2040786;2040788;2040790;2040792;2040794;2040796;2040798;2040800;2040802;2040804;2040806;2040808;2040810;2040812;2040814;2040816;2040818;2040820;2040822;2040824;2040826;2040828;2040830;2040832;2040834;2040836;2040838;2040840;2040842;2040844;2040846;2040848;2040850;2040852;2040854;2040856;2040858;2103520;2103522;2103524;2103526;2103528;2103530;2103532;2103534;2103536 ECD10350;ECD11569;ECD15194;ECD18121;ECD21238;ECD22228;ECD23406;ECD24316;ECD24361;GDB:315065;REN91420;REN91421;REN91422;REN91423;REN91424;REN91425;REN91426;REN91427;REN91428;REN91429;REN91430;REN91431;REN91432;REN91433;REN91434;REN91435;REN91436;REN91437;REN91438;REN91439;REN91440;REN91441;REN91442;REN91443;REN91444;REN91445;REN91446;REN91447;REN91448;REN91449;REN91450;REN91451;REN91452;REN91453;REN91454;REN91455;REN91456;REN91457;REN91458;REN91459;REN91460;REN91461;REN91462;REN91463;stSG605761;stSG605762;stSG605763;stSG605764;stSG605766;stSG605767;stSG605768;stSG605769;stSG605770 OLT-2 OSCAR-like transcript-2 protein;T-cell-interacting, activating receptor on myeloid cells protein 1 protein-coding ENSG00000248385 37250 PROVISIONAL 1348865 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Jul 2008] 6 6 p21.3 32897588 32914525 - 32789610 32806547 - 1580863;1601413;2312368;2312373;5147851;5147839;5147847;6480464;6482260;6482272;6482278;6482265;6482279;6482249;6482250;6482263;6482280;6482281;6482261;6482264;6482276;6482277;6482273;6482275;1578361;6907045;7240710 10560675;17192492;1300236;9062973;21796142;10323341;18248301;12648582;7748224;16595160;7759306;19492245;19480848;17581627;7928442;7797617;18071882;17366619;9303338;9014588;12634240;9645419;16112028 12826376;12786999;12786997;12777979;12777379;12729048;12717621;12687213;12682044;12648282;12648225;12645939;12594855;12507827;12505156;12485523;12477932;12234057;12225333;12213826;12047361;12026214;12018331;11960305;11916171;11775239;11774612;11737038;11494532;11381133;11294565;12911283;11229461;12047747;1946428;11133832;11532960;10835348;12202157;18029348;19404951;19387463;19343046;19297616;19263211;19258923;19217216;19202550;19188174;19148137;19116923;18976687;18764808;18694960;18433405;18385764;18309376;17982230;17947644;17703412;17525827;17491658;17245734;17068338;16923719;16886895;16721835;16690408;16634865;16395595;16356928;16216677;16215317;16210614;16191421;16174096;16061226;15887980;15548263;15489334;15488952;15385740;15343265;15336779;15318034;14749980;14679198;12963978;11096258;10508608;10227971;9916708;9672156;9551969;9324024;9175839;9103419;9002450;8955196;8805302;8773329;8670825;8568858;8458375;8453065;8428770;8162639;8125298;7835969;7792761;7517574;2259383;1741401;1570316;1538751;1529427;1453454;11157746;19913121;20587610;20628086;14558951;15518576;16828748;17055437;18650831;19549407;19609238;19851445;20083708;20193774;20204276;20453000;20470844;20503287;20525414;7538543;7673167;8496691;20439763;21399633;9427624;21440064;23302073;23455922;21832049;21843574;22065046;22911334;21139048;21890473;21906983;21987572;23182705;21963094;21988832;22989262;23000965;23028341;23189151;23349640;23449627;22505724;22638925 6891 B0V2J7;Q03519;Q9UP03 AB073779;AB208953;ABBA01038132;AF078671;AF105151;AF152583;AF176984;AF415199;AK222823;AK223300;AK225657;AK225693;AK292963;AL669918;AL671681;AL833658;AL935043;AMYH01016239;AY007425;BC002751;BG423357;BT009906;BX296564;BX682530;BX927138;CH471081;CR753889;CR762476;CT009500;CT009502;D42066;D78570;FM246456;L09191;L09271;L10287;M74447;M84748;NG_009793;NM_000544;NM_018833;U07844;X66401;X87344;Z22935;Z22936 AAA58648;AAA58649;AAA59841;AAA79901;AAD12059;AAD31384;AAD32715;AAD50509;AAG12163;AAI52840;AAL07496;AAP88908;ACE87017;BAA07665;BAA11414;BAB71769;BAD92190;BAD96543;BAD97020;BAF85652;CAA47027;CAA60788;CAA80522;CAA80523;CAR92541;EAX03642;EAX03643;NP_000535;NP_061313;Q03519 Hs.502 1663000;1664794;1710998;2158071;2170410;2218616;5120263;5120632;5493898 A006P08;D6S1426;D6S1432;G15956;GDB:226705;GDB:362798;SHGC-84877;TAP2_4167;Tap2 ABC18;ABCB3;APT2;D6S217E;PSF-2;PSF2;RING11 ABC transporter, MHC 2;ATP-binding cassette sub-family B member 3;ATP-binding cassette, sub-family B (MDR/TAP), member 3;OTTHUMP00000029078;OTTHUMP00000029079;OTTHUMP00000218770;PSF-2;antigen peptide transporter 2;peptide supply factor 2;peptide transporter PSF2;peptide transporter TAP2;peptide transporter involved in antigen processing 2;really interesting new gene 11 protein;transporter 2, ABC (ATP binding cassette) APPROVED protein-coding ENSG00000204267 44 01360 170261;604571 REVIEWED 1605561 TAPT1 transmembrane anterior posterior transformation 1 This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008] 4 4 4 p15.32 16626692 16693512 - 15771226 15837259 - 16162128 16228161 - 6480464 17151244;16303743;12477932;10640539;8605045;21890473;21906983 202018 B4DJJ3;B4DR99;D6RBK3;H0Y916;H0Y985;Q6NXT6 AA811306;ABBA01032580;ABBA01032581;AC108063;AC110088;AF189251;AK074494;AK296104;AK299163;AMYH01014026;BC066899;CH471069;CQ783461;CQ834444;DB461077;NG_033259;NM_153365 AAF28308;AAH66899;BAC11022;BAG58855;BAG61211;CAF86657;CAH05437;EAW92754;EAW92755;EAW92756;EAW92757;EAW92758;EAW92759;EAW92760;EAW92761;EAW92762;NP_699196;Q6NXT6 Hs.479223 1665707;1674143;1848112;2152626;2185155 D4S479;RH69420;SHGC-24737;SHGC-67683;SHGC-67911 CMVFR;FLJ90013 OTTHUMP00000217738;cytomegalovirus partial fusion receptor;transmembrane anterior posterior transformation protein 1 homolog APPROVED protein-coding ENSG00000169762 26887 612758 REVIEWED 2307245 TAPT1-AS1 TAPT1 antisense RNA 1 (head to head) 4 4 4 p15.32 16693640 16725164 + 15837468 15838277 + 16228286 16259810 + 16344560;16341674;14702039;12477932;12107410 202020 Q8N8D0 ABBA01032581;AC006427;AC110088;AI770046;AK093550;AK096972;AMYH01014026;AMYH01014027;BC010030;BC025666;BC132927;BF732723;BQ082500;CA391675;CH471069;DA640966;DA797317;DA920057;DB123134;DR004294;NR_027696;NR_027697 BAC04194;BAC04916;EAW92764;Q8N8D0 Hs.445315 1694472;5017170;5022578;5493457 D1S1423;G42966;L29953;UniSTS:486536 APPROVED miscrna ENSG00000263327 26832 08263 VALIDATED 6480385 TARS2P1 threonyl-tRNA synthetase 2, mitochondrial pseudogene 4 136486078 136488317 - 100533844 ABBA01044892;AC093773;AMYH01014550;NG_028840 pseudo 43712 INFERRED 1316539 TARBP2 TAR (HIV-1) RNA binding protein 2 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008] 12 12 q12-q13 52180972 52186482 + 53894705 53900215 + 1580863;4144851;6480464 20661255 17452327;2011739;19422693;19219043;19138993;19047128;18948111;18936160;18178619;17360756;16343534;16142218;15123692;14585207;12477932;12023963;11641396;11443112;11438532;11228241;11060498;10759868;10330179;8723388;8455607;7774957;18654987;7568151;21145461;20585341;15973356;16169070;16424907;19820710;19836333;20211803;20211142;20732906;20877318;23006623;21080422;23251028;21526770;19953087;21900206;21903422;22163034;22698405;18029348;21832049;22025453;22933564;22999255;16357216;19060904;19716330;23435228;23550157;12549820;16629595 6895 F8VP94;F8VSA1;F8VTT7;F8VW32;F8VYK3;F8VYK6;F8VZ57;F8VZZ7;H3BV98;Q15633 ABBA01008343;AC023509;AF281068;AK290737;AK309569;AMYH01004482;BC002419;BC005860;BI771121;BT007140;CH471054;M60801;NM_004178;NM_134323;NM_134324;U08998 AAA36765;AAB50581;AAH05860;AAL55730;AAL55731;AAP35804;ABM84475;ABM84857;BAF83426;EAW96717;EAW96718;EAW96719;EAW96720;NP_004169;NP_599150;NP_599151;Q15633 Hs.326 1682852;1715357;1775723;1776642;2107657;2182366 G42930;RH120510;RH39878;STS-M60801;STS-R72841;TARBP2__5191 LOQS;TRBP;TRBP1;TRBP2 OTTHUMP00000242306;OTTHUMP00000242307;OTTHUMP00000242315;RISC-loading complex subunit TARBP2;TAR (HIV) RNA-binding protein 2;TAR (HIV) RNA-binding protein TRBP1;TAR RNA binding protein 2;TAR RNA-binding protein 2;trans-activation responsive RNA-binding protein;trans-activation-responsive RNA-binding protein APPROVED protein-coding ENSG00000139546 11569 05446 605053 REVIEWED 1347235 TARBP1 TAR (HIV-1) RNA binding protein 1 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008] 1 1 1 q42.3 207797968 207884850 - 232593682 232681472 - 234527059 234614849 - 1580863;6480464 16710414;14702039;12477932;12458222;8626763;7638159;1936997;1752441;8846792;19422693;18412263;17903297;19615732;20379614;14559993;21139048;21890473;22025453;17360756;18051367;21294215 6894 Q13395 AA714641;ABBA01033094;ABBA01033095;ABBA01033096;AK055044;AL136124;AL355472;AMYH01001832;AMYH01001833;BC016023;CH471098;NM_005646;U38847 AAC50379;AAI56250;EAW69993;NP_005637;Q13395 Hs.498115 1650142;1674699;1675001;1846812;2158662;2170693;2174233;2174235;2174269;5015861;5015961;5037552;5093838;5093856;7185938 A006I23;A009X31;A009X47;AL010060;D10S16;D15S1477;D8S2279;G20847;G32953;G32965;SGC31782;SHGC-76544;SHGC-76546;SHGC-76556 FLJ30482;TRM3;TRP-185;TRP185 OTTHUMP00000036048;TAR (HIV) RNA binding protein 1;TAR (HIV) RNA-binding protein 1;TAR RNA loop binding protein;TAR RNA-binding protein 1;TAR RNA-binding protein of 185 kDa;probable methyltransferase TARBP1;tRNA methyltransferase 3 homolog APPROVED protein-coding ENSG00000059588 11568 05445 605052 REVIEWED 1353489 TAS1R2 taste receptor, type 1, member 2 1 1 p36.13 19038680 19058742 - 19166093 19186155 - 1580863;6480464 11894099;11917125;16720576;17935609;17108952;16710414;16633339;14636554;12856281;12706725;10052456;19664591;20070850;20173092;20302879;20468064;20943793;20858777;23568457;21540445;22315413 80834 Q8TE23 ABBA01059746;ABBA01059747;AF458154;AL831755;AMYH01000310;BK000151;BX537160;CH471134;FB676145;FB701754;FB701764;NM_152232 AAI41438;AAM12239;CAS03327;CAS03332;CAS03501;DAA00019;EAW94857;NP_689418;Q8TE23 Hs.553548 1765331 SHGC-148823 GPR71;T1R2;TR2 G protein-coupled receptor 71;G-protein coupled receptor 71;OTTHUMP00000002543;sweet taste receptor T1R2;taste receptor type 1 member 2 protein-coding ENSG00000179002 14905 06940 606226 VALIDATED 1604885 TARP TCR gamma alternate reading frame protein In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset of the TRG@ gene segments and is shorter than TRG@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearranged TRG@ locus transcript; the complete TRG@ locus is represented by the genomic RefSeq NG_001336. The transcript represented by this RefSeq has two open reading frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRG@ and its protein product is similar to TRG@ proteins. The upstream ORF uses a different reading frame and encodes a novel protein. [provided by RefSeq, Jul 2008] 7 7 p15-p14 38265769 38279773 - 38299244 38313248 - 6480464 18321859;15150260;12865322;12477932;11719440;10931945;10430935;3112943;3102973;2961573;2955517;2949984;20499060;20376779;20413723;20558613;3261778;21832049;23019373 445347 A2JGV3;Q0VGM3 AACC02000036;ABBA01056928;AC006033;AF151103;AF151104;AMYH01017188;BC017861;BC030554;BC105589;BF674593;CH236951;GN344123;GN344125;M16804;M17324;M17325;M27331;M27332;M27334;M30894;NG_001336;NG_029035;NM_001003799;NM_001003806;X06774;X06775;Y00790 AAA61112;AAA61113;AAA61114;AAA61123;AAA61124;AAB63313;AAB63314;AAG29337;AAI05590;CAA29941;CAA29942;CAA29943;CAA68744;CAY55997;CAY55998;NP_001003799;NP_001003806 Hs.534032;Hs.731375 1673087;7187376 D7S2865;TCRG CD3G;TCRG;TCRGC1;TCRGC2 OTTHUMP00000207440;T cell receptor gamma alternate reading frame protein;T cell receptor gamma chain;T-cell receptor gamma-chain constant region;TCR gamma alternate reading frame protein APPROVED protein-coding 15468 609642 REVIEWED 1344836 TAS1R3 taste receptor, type 1, member 3 The TAS1R3 gene encodes the human homolog of mouse Sac, a major determinant of differences between sweet-sensitive and -insensitive mouse strains in their responsiveness to sucrose, saccharine, and other sweeteners (Max et al., 2001 [PubMed 11326277]).[supplied by OMIM, Jan 2010] 1 1 p36.33 1256589 1259707 + 1266726 1269844 + 6480464 11917125;16720576;19587085;19559618;19146926;18539481;17935609;17928076;17499612;17108952;16710414;16633339;15668251;15585941;15353592;15299024;12892531;12706725;11894099;11326277;11319557;22450161;19083128;19571223;19664591;20302879;21540445;21324568;21422378;22427794;22773945 83756 Q7RTX0 AB065647;ABBA01016032;AC026283;AK122959;AL139287;AMYH01000130;BK000152;CH471183;CS448306;FB676147;FB701756;GM692547;HC305278;NM_152228 AAI52913;BAC05873;CAL69810;CAS03328;CAS03502;CAV33588;CBJ18622;DAA00013;EAW56228;NP_689414;Q7RTX0 Hs.74375 1665809;2146167;5023161 RH68255;SHGC-74072;hT1R3ex6.2 T1R3 OTTHUMP00000003108;sweet taste receptor T1R3;taste receptor type 1 member 3 APPROVED protein-coding 15661 605865 PROVISIONAL 732021 TAS1R1 taste receptor, type 1, member 1 The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] 1 1 p36.23 6538021 6562404 + 6615338 6639817 + 6480464 11917125;17108952;19146926;17724330;17506496;16710414;15353592;12856281;11894099;11891061;10052456;21738478;20660057;12477932;19571223;19587085;19625681;19696921;19962942;20468064;21422378;22427794 80835 A8K7J9;H0Y6X0;H7C3W7;Q8TDK0 AB065618;ABBA01035456;ABBA01035457;ABBA01035458;AF387617;AF387618;AF387619;AF387620;AI742401;AK292014;AK293499;AK315805;AL591866;AMYH01000217;BC136515;BC136516;BK000153;CA426652;CH471130;CS250328;CS250330;CS250332;CS250334;NM_138697;NM_177540 AAI36516;AAI36517;AAL91358;AAL91359;AAL91360;AAL91361;BAC05845;BAF84703;BAG38146;BAG56985;CAJ58406;CAJ58407;CAJ58408;CAJ58409;DAA00012;EAW71551;EAW71552;EAW71553;EAW71554;NP_619642;NP_803884;Q7RTX1 Hs.124574 2112926;2134215 D1S3041;D1S3702 GPR70;T1R1;TR1 G protein-coupled receptor 70;G-protein coupled receptor 70;OTTHUMP00000001581;OTTHUMP00000001582;OTTHUMP00000001583;OTTHUMP00000001584;seven transmembrane helix receptor;taste receptor type 1 member 1 APPROVED protein-coding ENSG00000173662 14448 06939 606225 REVIEWED 1353239 TAS2R12P taste receptor, type 2, member 12 pseudogene 12 12 12 p13.2 16195795 16196742 - 10938800 10939747 - 11047533 11048480 - 15744053;15496549;12581520;12139982;11696554 266656 ABBA01067808;AC006518;AMYH01004281;AX097717;AY724947;NG_005300 1652619 WI-11709 PS10;T2R12;TAS2R12;TAS2R26 taste receptor, type 2, member 12 APPROVED pseudo 19103 INFERRED 1351710 TARSL2 threonyl-tRNA synthetase-like 2 15 15 15 q26.3 78607580 78678213 - 100011478 100082168 - 102193955 102264645 - 1580863;6480464 14702039;12477932;8889548;20379614;21987572;21906983 123283 A2RTX5;B7ZLP8;H0YKB9 ABBA01020518;AC027559;AC090164;AK056653;AK057734;AL833188;AMYH01006975;AW161214;BC035827;BC069346;BC069811;BC074887;BC132671;BC136315;BC143943;BE856588;BU677165;CH471101;NM_152334 A2RTX5;AAH69346;AAH69811;AAH74887;AAI32672;AAI36316;AAI43944;BAB71241;BAB71554;EAX02316;NP_689547 Hs.657163 1649487;1663888;1663890;1688716;1691204;1768634;2149974;2154210;2158182 A004I39;A005U16;G20505;NIB466;RH75749;RH94107;SHGC-57685;STS-Z40661;WI-14285 FLJ25005 OTTHUMP00000194834;probable threonine--tRNA ligase 2, cytoplasmic;probable threonyl-tRNA synthetase 2, cytoplasmic;thrRS;threonine--tRNA ligase;threonyl-tRNA synthetase;threonyl-tRNA synthetase-like protein 2 protein-coding ENSG00000185418 24728 15469 VALIDATED 1344526 TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative) This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012] 1 1 1 q21.3 123575684 123595519 + 148726544 148746380 + 150459920 150479756 + 6480464 19209188;16710414;15779907;15489334;14702039;12477932;8125298;21145461;20877624;15146197;15342556;8889548;20186120;21890473;22797925 80222 B4DQF3;Q5T5E9;Q5T5F2;Q9BW92;Q9H9V2 ABBA01049345;ABBA01049346;ABBA01049347;AK022590;AK222814;AK225368;AK298773;AK315507;AL356356;AL512732;AMYH01001377;AY450558;BC000541;BC007824;BC009997;BM974316;BP308698;CA426625;CH471121;CN258895;DB451526;DB551795;HY044809;NM_001271895;NM_001271896;NM_025150;NR_073513;NR_073514 AAH00541;AAH07824;AAH09997;AAR23527;BAB14117;BAD96534;BAG60915;CAC21664;EAW53548;EAW53549;EAW53550;NP_001258824;NP_001258825;NP_079426;Q9BW92 Hs.288974 5037552 D8S2279 FLJ12528;TARSL1;thrRS OTTHUMP00000014939;OTTHUMP00000014940;OTTHUMP00000014941;thrRS;threonine tRNA ligase 2, mitochondrial;threonine--tRNA ligase;threonine--tRNA ligase, mitochondrial;threonyl-tRNA synthetase, mitochondrial protein-coding ENSG00000143374 30740 18148 612805 REVIEWED 1352924 TAS2R15 taste receptor, type 2, member 15 pseudogene 12 12 12 p13.2 16265204 16265974 - 11008316 11009218 - 11117181 11117951 - 15744053;15496549;12679530 266657 ABBA01067808;AC006518;AMYH01004281;AX097723;AY724951;BK001065;NG_002788 PS8;T2R15 taste receptor, type 2, member 15 pseudo 19106 INFERRED 1347690 TAS2R10 taste receptor, type 2, member 10 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16126257 16127180 - 10869212 10870135 - 10977945 10978868 - 634075;1580863;6480464 10761934 15759003;15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10761935;23283334 50839 Q50KS4;Q9NYW0 AB199073;AB199074;AB199075;ABBA01067807;AC006518;AF227136;AMYH01004280;BC069089;BC101762;BC101764;CH471094;CS008207;CS008213;GM829122;NM_023921 AAF43909;AAH69089;AAI01763;AAI01765;BAD97974;BAD97975;BAD97976;CAI53555;CAI53558;CAV28564;EAW96211;NP_076410;Q9NYW0 Hs.533756 1722467;2107661;5492431;5493343 G60157;TAS2R10__5195;UniSTS:481011;UniSTS:485786 MGC126811;MGC126813;T2R10;TRB2 OTTHUMP00000238877;taste receptor family B member 2;taste receptor type 2 member 10;taste receptor, family B, member 2 APPROVED protein-coding ENSG00000121318 14918 11990 604791 REVIEWED 1352499 TAS2R1 taste receptor, type 2, member 1 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008] 5 5 5 p15 9669459 9670813 - 9682109 9683463 - 9629109 9630463 - 634075;1580863;6480464 10761934 15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10766221;10761935;19812673;20599705;21619450;21852241;22683571 50834 Q502V6;Q9NYW7 AB198983;AB198984;AB198985;ABBA01020592;AC003015;AC026787;AC034214;AF227129;AMYH01014902;AY724812;BC095521;BC101729;BC101731;CH471102;CS008129;GM829120;NM_019599 AAF43902;AAH95521;AAI01730;AAI01732;AAU21051;BAD97889;BAD97890;BAD97891;CAI53516;CAV28563;EAX08075;NP_062545;Q9NYW7 Hs.567492 5493295;5493979 UniSTS:480624;UniSTS:485625 MGC126778;MGC126780;T2R1;TRB7 OTTHUMP00000115583;taste receptor family B member 7;taste receptor type 2 member 1;taste receptor, family B, member 7 APPROVED protein-coding ENSG00000169777 14909 07267 604796 REVIEWED 1348969 TAS2R18 taste receptor, type 2, member 18 266658 AX097728 1656276;2129410 G41794;RH78796 T2R18 protein-coding 19107 1353941 TAS2R19 taste receptor, type 2, member 19 p13.2 266659 AX097730 5493281 UniSTS:485590 T2R19 protein-coding 19108 613961 1343952 TAS2R20 taste receptor, type 2, member 20 p13.2 266660 AX097732 2106687;5492803 TAS2R49__5209;UniSTS:482681 T2R20 protein-coding 19109 613962 1348945 TAS2R22 taste receptor, type 2, member 22 266661 AX097735 T2R22 miscrna 19110 1352038 TAS2R23 taste receptor, type 2, member 23 266662 AX097737 T2R23 protein-coding 19111 1347839 TARS threonyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008] 5 5 p13.2 33476655 33503953 + 33440802 33468196 + 1580863;6480464 7626230;17220478;17353931;2033077;17203973;15489334;14702039;12477932;8125298;8049265;7118437;7118399;3464105;2747635;20562859;21145461;21319273;22863883;22939629;22990118;18029348;11329013;18274552;21081666;21252943;19738201;22623428;23000965;23425968;18781797;21139048;21890473;21906983;21963094;21987572;16009940;21853274;22190034;22505724;22797925 6897 D6R9F8;D6RBR8;D6RCA5;D6RCS6;D6RDJ6;D6RHV7;D6RJ97;E7ERI3;G3XAN9;P26639 ABBA01066753;AC025441;AC034231;AK095852;AK222804;AK292346;AK293620;AK296783;AK308342;AK311361;AK315713;AMYH01015004;AW246273;BC000517;BC003699;BC010578;BC088355;BF028586;BG183397;CH471118;M63180;NM_001258437;NM_001258438;NM_152295;NR_047676;NR_047677;NR_047678 AAB04939;AAH00517;AAH10578;AAH88355;ABM82342;ABM85516;ACE87131;BAD96524;BAF85035;BAG38072;BAG53144;BAG57079;BAG59361;EAX10803;EAX10804;NP_001245366;NP_001245367;NP_689508;P26639 Hs.481860 1725699;1775404;2107659;2117857;2134367;2134369;2190543 A001V01;EST23E6;G19676;G62112;RH35850;STS-T80838;TARS__5192 MGC9344;ThrRS OTTHUMP00000115851;OTTHUMP00000221016;OTTHUMP00000221018;threonine tRNA ligase 1, cytoplasmic;threonine--tRNA ligase;threonine--tRNA ligase, cytoplasmic;threonyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000113407 11572 01762 187790 REVIEWED 1350051 TAS2R30 taste receptor, type 2, member 30 266663 P59541 AX097746 2183380 D12S1123 T2R30 protein-coding 19112 613963 1353388 TAS2R31 taste receptor, type 2, member 31 266664 AX097748 2218816 TAS2R44__5206 T2R31 protein-coding 19113 612669 1349734 TAS2R2P taste receptor, type 2, member 2 pseudogene 7 7 7 p21.3 12507995 12508904 + 12497246 12498155 + 12530721 12531630 + 15744053;15496549 338396 AACC02000009;ABBA01056570;AC013470;AMYH01017074;AX097698;AY724965;CH236948;NG_005302 PS9;T2R02;T2R2;TAS2R2 taste receptor, type 2, member 2 APPROVED pseudo 20615 INFERRED 1346808 TAS2R33 taste receptor, type 2, member 33 266665 AX097751 T2R33 taste receptor, type 2, member 33 protein-coding 19114 1353414 TAS2R36 taste receptor, type 2, member 36 266666 AX097755 T2R36 taste receptor, type 2, member 36 protein-coding 19115 1344875 TAS2R37 taste receptor, type 2, member 37 266667 AX097757 T2R37 taste receptor, type 2, member 37 protein-coding 19116 1322081 TARDBP TAR DNA binding protein HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008] 1 1 p36.22 10995266 11008136 + 11072679 11085549 + 1580863;5687171;5687185;5687180;5687173;5687183;5687158;5687136;5687195;5687192;5687194;5687137;5687193;5687159;5687134;5687172;5687178;5687157;5687179;5687139;6480464;7240710 21865887;20512649;20669025;21651514;20551689;17023659;22177996;22101322;18372902;18091558;21998667;18288693;20660618;21752789;21667065;21070634;18309045;20720505;21376022 20600671;19164285;17081983;21541367;8599929;15231747;18377426;7745706;18029348;19664364;19560462;19533646;19455346;19411082;19383787;19350673;19330339;19303844;19285963;19283396;19237541;19236453;19235466;19228676;19225410;19224587;19217189;19204172;19204154;19191304;19139911;19139310;19125255;19112176;19111550;19066918;19048944;19039597;19018245;18989684;18974920;18957508;18931000;18929508;18923836;18843496;18802454;18779421;18755042;18723524;18723384;18703504;18657254;18656473;18634762;18592312;18549326;18546284;18545701;18520774;18506455;18505686;18438952;18396105;18379440;18305152;18305110;18304732;18206910;18088371;18087705;18068872;17981595;17614162;17569066;17492294;17360763;16710414;16381901;16169070;16157593;15489336;15489334;12477932;12361981;11470789;11285240;11230166;11076863;8889548;8125298;21454603;21454607;22456481;22539017;22674575;22764223;19306141;19714537;20372915;20558162;20864052;20043239;20555136;20577002;20645878;20675015;20708823;21358640;21452073;20720006;20047951;19781077;21062285;21086759;19338576;20225928;21172843;21172844;20447446;20697052;20702714;11256614;17481916;17643375;19422539;19465477;19515851;19526244;19609911;19618195;19685386;19695877;19786775;19808791;19815002;19816201;19833869;19851068;19864663;19864664;19887443;19910924;19938687;19944744;19959528;20008652;20031275;20055380;20071528;20082726;20133711;20154090;20154440;20423455;20472325;20519548;22835933;22970712;20554523;20624952;20530643;20736350;20937952;19760257;20621187;21123567;20959352;20175762;21131904;22539580;20236174;20558945;20948999;21471218;21206091;21126161;21257637;22957047;22990118;23048034;21209826;21220647;21412434;21339291;21403029;21508314;21355045;21647631;21421050;22718532;21118398;21666678;23097605;23124365;23558684;21899152;23023293;21450909;21753175;21487023;22029574;22235134;21252943;21418058;22100394;22193716;22323604;19798749;20360068;21956718;21706176;21830155;21903422;21933185;21956716;22079093;20933032;20951205;21881207;21946215;21783252;17623298;21987572;22118674;22446626;22550220;22674379;22693459;23041957;23138004;23384725;22156203;23798571;22127299;21139048;21678031;21890473;21906983;19471022;22133803;22252998;22327514;22292843;22363618;21120508;21243369;22147697;18584184;22493728;22563080;22584570;20301623;20301761;22398199;22855830;21145461;22405725;23541532;22506890;23053136;23300771;23449777;22578468;22872699;22944662;23235148;19738201;21963094;22424122;22623428;22751105;22873561;23000965;22752089;22751173;23703321;21832049;22732773;22939629;18391021;20804554;23372158;21853274;21943958;22257502;22406069;22505724;22575358;22797925;22941224;23022214;23092511;22414730;22691390;22900096;23258539;23317354 23435 B1AKP7;B4DJ45;G3V162;K7EJ99;K7EJM5;K7EL26;K7EN94;K7ENM9;Q96DJ0;Q9H256 ABBA01003032;AF311304;AK222754;AK295920;AK299454;AK312416;AL045296;AL050265;AL109811;AMYH01000251;BC001487;BC059955;BC071657;BC095435;BI464234;BM716882;CD703666;CH471130;CR533534;EF434181;EF434182;EF434183;HB886813;HC091208;HC944222;NG_008734;NM_007375;U23731 AAA70033;AAG47782;AAH71657;AAH95435;ABO32290;ABO32291;ABO32292;ABZ92471;BAD96474;BAG35326;BAG58707;BAG61425;CAB43367;CAG38565;CAL37794;CBF67564;CBI68017;CBU92437;EAW71669;EAW71670;EAW71671;EAW71672;EAW71673;NP_031401;Q13148 Hs.300624 1688538;1856297;2157128;5109627;5115061;5125057 D1S1845E;HSC11D022;RH10991;RH27226;SHGC-74204;WI-8757 ALS10;TDP-43 OTTHUMP00000002171;OTTHUMP00000002172;OTTHUMP00000002173;TAR DNA-binding protein 43;TAR DNA-binding protein-43 APPROVED protein-coding 11571 05466 605078;612069 REVIEWED 1344570 TAS2R13 taste receptor, type 2, member 13 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16208804 16210440 - 10951792 10953428 - 11060525 11062161 - 634075;1580863;6480464 10761934 15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10761935;17207965;20064487 50838 Q50KQ6;Q9NYV9 AB199106;AB199107;AB199108;ABBA01067808;AC006518;AF227137;AMYH01004281;BC069376;BC095518;BC115402;BC115403;CH471094;CS008215;NM_023920 AAF43910;AAH69376;AAH95518;AAI15403;ADQ32895;BAD97991;BAD97992;BAD97993;CAI53559;EAW96218;NP_076409;Q9NYV9 Hs.679407 5492427 UniSTS:481010 T2R13;TRB3 OTTHUMP00000239037;taste receptor family B member 3;taste receptor type 2 member 13;taste receptor, family B, member 3 APPROVED protein-coding ENSG00000212128 14919 11991 604792 REVIEWED 1349558 TAS2R14 taste receptor, type 2, member 14 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16238874 16239827 - 10982120 10983073 - 11090853 11091806 - 634075;1580863;6480464 10761934 16720576;16335952;15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10761935;20534144;20930049;21942422 50840 Q6ZW62;Q9NYV8 AB199117;AB199118;AB199119;ABBA01067808;AC006518;AF227138;AK123548;AMYH01004281;BC069148;BC101993;BC101994;BC103699;CH471094;CS008219;NM_023922 AAF43911;AAH69148;AAI01994;AAI01995;AAI03700;BAC85643;BAD98002;BAD98003;BAD98004;CAI53561;EAW96222;NP_076411;Q9NYV8 Hs.679406;Hs.731575 1725929;2115363;2218814;5494009 G62373;SHGC-35693;TAS2R14__5197;UniSTS:480720 MGC125491;MGC125492;T2R14;TRB1 OTTHUMP00000222580;taste receptor family B member 1;taste receptor type 2 member 14;taste receptor, family B, member 1 APPROVED protein-coding 14920 11989 604790 REVIEWED 1343606 TAS2R16 taste receptor, type 2, member 16 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 q31.1-q31.3 122421995 122422990 - 122634759 122635754 - 634075;1580863;6480464;7240710 10761934 16720576;18524836;17250611;16385453;15759003;15744053;15496549;15489334;12853948;12581520;12477932;12379855;12139982;11696554;10774719;10766242;10766221;10761935;20605788;20965151;21740153;23133589 50833 Q50KN6;Q9NYV7 AACC02000001;AB199132;AB199133;AB199134;ABBA01057740;AC004838;AF227139;AMYH01017901;BC095524;CH236947;CH471070;CS008227;GM829126;NG_011980;NM_016945 AAF43912;AAH95524;AAP21892;BAD98011;BAD98012;BAD98013;CAI53565;CAV28566;EAL24338;EAW83581;NP_058641;Q9NYV7 Hs.272395 5493989 UniSTS:480662 T2R16 OTTHUMP00000211449;candidate taste receptor T2R16;taste receptor type 2 member 16 APPROVED protein-coding ENSG00000128519 14921 05334 103780;604867 REVIEWED 1342891 TAS2R4 taste receptor, type 2, member 4 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32 136199919 136200818 + 141124758 141125657 + 141478289 141479188 + 634075;1580863;6480464 10761934 15744053;15496549;12853948;12581520;12139982;11696554;11437385;10774719;10766242;10766221;10761935;12477932;23159609;23568457;22794107 50832 Q50KX7;Q9NYW5 AACC02000020;AB199016;AB199017;AB199018;ABBA01034110;AC004979;AF227131;AJ415015;AJ415131;AJ415288;AJ415400;AMYH01017998;BC130439;BC136508;CH236950;CH471070;CS008143;NM_016944 AAF43904;AAI30440;AAI36509;AAS02039;ADR83126;BAD97921;BAD97922;BAD97923;CAC94173;CAC94265;CAC94358;CAC94451;CAI53523;EAL24016;EAW83983;NP_058640;Q9NYW5 Hs.735690 2107667;5493725;5493991 TAS2R4__5202;UniSTS:480661;UniSTS:494134 MGC163311;T2R4 OTTHUMP00000212311;candidate taste receptor T2R4;taste receptor type 2 member 4 APPROVED protein-coding ENSG00000127364 14911 05336 604869 REVIEWED 1350058 TAS2R39 taste receptor, type 2, member 39 7 7 7 q34 137717381 137718397 + 142590634 142591650 + 142880512 142881528 + 1580863;6480464 15744053;15496549;15489334;12581520;12477932;12379855;12139982;11696554;21670512;21272567;21942422 259285 P59534;Q50KL2 AACC02000107;AB199156;AB199157;AB199158;ABBA01034134;AC073342;AF494230;AMYH01018007;BC100947;BC100948;BC114952;CH236959;CH471198;CS008249;NM_176881 AAI00948;AAI00949;AAI14953;AAI60088;AAM19321;BAD98035;BAD98036;BAD98037;CAI53576;EAW51884;EAW51885;EAW51886;NP_795362;P59534 Hs.553660 2107665;5492805 TAS2R39__5201;UniSTS:482679 T2R39;T2R57 OTTHUMP00000202102;taste receptor type 2 member 39;taste receptor type 2 member 57 protein-coding ENSG00000236398 18886 18149 PROVISIONAL 1345631 TAS2R3 taste receptor, type 2, member 3 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32 136185522 136186622 + 141110366 141111466 + 141463897 141464997 + 1580863;6480464 10761934;15744053;15496549;15489334;12853948;12690205;12581520;12477932;12139982;11696554;11437385;10774719;10766242;10766221;10761935;19372376;23568457;22397221 50831 Q50KZ1;Q9NYW6 AACC02000020;AB199002;AB199003;AB199004;ABBA01034110;AC004979;AF227130;AMYH01017998;AY724961;BC069337;BC095523;CH236950;CH471070;CS008135;CS300826;NM_016943 AAF43903;AAH69337;AAH95523;AAS02038;AAU21157;BAD97907;BAD97908;BAD97909;CAI53519;CAK32490;EAL24017;EAW83982;NP_058639;Q9NYW6 Hs.676011 5492511 UniSTS:481405 T2R3 OTTHUMP00000212312;candidate taste receptor T2R3;taste receptor type 2 member 3 APPROVED protein-coding ENSG00000127362 14910 05335 604868 REVIEWED 1346793 TAS2R38 taste receptor, type 2, member 38 This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009] 7 7 q34 141318900 141320042 - 141672431 141673573 - 1580863;6480464;7240710 18719631;18712160;18524836;18393128;18209019;17662150;17250611;16979544;16607493;16298720;15883422;15744053;15733260;15687429;15496549;15489334;15466815;15337684;14997422;12690205;12624758;12595690;12584440;12581520;12477932;12379855;12139982;11696554;6745938;20858777;23568457;19913121;20551074;20594349;20628086;20675712;19779476;19782709;20484932;21147709;23041624;21338274;21674048;21769326;22130969;21712049;22440514;21763010;22955840;22792271;22794107 5726 P59533;Q86UK4 AACC02000019;AB199146;AB199147;AB199148;ABBA01034115;AC073647;AF494231;AMYH01018004;AY114095;AY258597;AY258598;BC104933;BC104937;CH236950;CH471070;CS008241;CS008247;NG_016141;NM_176817 AAI04934;AAI04938;AAM19322;AAM63545;AAP14666;AAP14667;BAD98025;BAD98026;BAD98027;CAI53572;CAI53575;EAL24011;EAW83993;NP_789787;P59533 Hs.647085 1727369;2107663;5493673 G63092;TAS2R38__5200;UniSTS:490162 PTC;T2R38;T2R61 OTTHUMP00000212847;PTC bitter taste receptor;taste receptor type 2 member 38;taste receptor type 2 member 61 APPROVED protein-coding ENSG00000257138 9584 09672 171200;607751 REVIEWED 1344406 TAS2R42 taste receptor, type 2, member 42 12 12 12 p13 16481007 16481951 - 11229866 11230810 - 11338599 11339543 - 15744053;15496549;12679530;16541075;12477932;23632330;22397221 353164 Q50KD6;Q7RTR8 AB199240;AB199241;AB199242;ABBA01067813;AC010176;AMYH01004281;AX097739;BC131742;BK001099;CH471094;NM_181429 AAI31743;BAD98112;BAD98113;BAD98114;DAA01206;EAW96229;NP_852094;Q7RTR8 Hs.553716 2110099 hT2R55__6612 T2R24;T2R55;TAS2R55;hT2R55 OTTHUMP00000239042;T2R42;candidate taste receptor hT2R55;taste receptor T2R55;taste receptor type 2 member 42;taste receptor type 2 member 55 protein-coding ENSG00000186136 18888 18137 613966 PROVISIONAL 1343190 TAS2R47 taste receptor, type 2, member 47 12 p13.2 11177151 11178110 - 1580863 15744053;15496549;12581520;12379855;12139982;11696554 259293 Q50KG7 AB199208;AC018630;AF494233;AY724940;CS008297;NM_001097643 AAI56866;AAM19324;AAU21142;BAD98081;CAI53600;NP_001091112;P59541;Q50KG7 Hs.679464 protein-coding 18878 613963 1351253 TAS2R40 taste receptor, type 2, member 40 7 7 7 q34 137756043 137757014 + 142629294 142630265 + 142919172 142920143 + 1580863;6480464 15744053;15496549;15489334;12690205;12581520;12477932;12379855;12139982;11696554 259286 P59535;Q50KK6 AACC02000107;AB199167;AB199168;AB199169;ABBA01034134;AC073342;AF494229;AMYH01018007;BC101795;BC101797;CH236959;CH471198;CS008253;NM_176882 AAI01796;AAI01798;AAM19320;BAD98041;BAD98042;BAD98043;CAI53578;EAL23782;EAW51882;NP_795363;P59535 Hs.352241 5493367 UniSTS:485863 GPR60;MGC126844;MGC126846;T2R40;T2R58 G protein-coupled receptor 60;G-protein coupled receptor 60;OTTHUMP00000202106;taste receptor type 2 member 40;taste receptor type 2 member 58 protein-coding ENSG00000221937 18885 18150 613964 PROVISIONAL 1353850 TAS2R41 taste receptor, type 2, member 41 7 7 7 q35 138012198 138013121 + 142885088 142886011 + 143174966 143175889 + 1580863;6480464 15744053;15496549;12584440;12581520;12477932;12379855;12139982;11696554 259287 P59536 AACC02000107;AB199177;AB199178;AB199179;ABBA01034137;AC073264;AF494232;AMYH01018008;AY114093;BC101157;BC101158;CH236959;CS008263;CS008267;NM_176883 AAI01158;AAI01159;AAM19323;AAM63543;BAD98051;BAD98052;BAD98053;CAI53583;CAI53585;NP_795364;P59536 Hs.650648 5493085 UniSTS:484183 MGC119928;MGC119929;T2R41;T2R59 OTTHUMP00000208853;taste receptor type 2 member 41;taste receptor type 2 member 59 protein-coding ENSG00000221855 18883 18151 613965 PROVISIONAL 1353935 TAS2R46 taste receptor, type 2, member 46 TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009] 12 12 12 p13.2 16363837 16364766 - 11105231 11106160 - 11213964 11214893 - 1580863;6480464 15744053;15496549;12584440;12581520;12477932;12379855;12139982;11696554 259292 P59540;Q50KH1 AB199204;AB199205;ABBA01067809;AC018630;AC243974;AF494227;AMYH01004281;AY114091;BC115401;CH471094;CS008289;GM829124;NM_176887 AAM19318;AAM63541;BAD98077;BAD98078;CAI53596;CAV28565;EAW96227;NP_795368;P59540 Hs.688193 5493089;5493091 UniSTS:484184;UniSTS:484185 MGC134865;T2R46;T2R54 OTTHUMP00000229430;taste receptor type 2 member 46;taste receptor type 2 member 54 APPROVED protein-coding ENSG00000226761 18877 18155 612774 VALIDATED 1349656 TAS2R45 taste receptor, type 2, member 45 12 16392023 16392922 - 1580863;6480464 15744053;12581520;12477932;12379855;12139982;11696554 259291 P59539;Q9HD50 AB199191;AB199192;ABBA01067813;AC217021;AF264628;AF494226;AMYH01004281;BC101154;BC101156;CH471094;NM_176886 AAG03020;AAI01155;AAI01157;AAM19317;BAD98065;BAD98066;EAW96228;NP_795367;P59539 Hs.287378 5493089;5493091 UniSTS:484184;UniSTS:484185 GPR59;MGC119923;MGC119924;MGC119925;T2R45;ZG24P G protein-coupled receptor 59;G-protein coupled receptor 59;taste receptor type 2 member 45 protein-coding 18876 18154 613967 PROVISIONAL 1346884 TAS2R43 taste receptor, type 2, member 43 TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009] 12 12 12 p13.2 14793832 14794856 + 11135153 11136179 - 11243886 11244912 - 1580863;6480464 16720576;17702579;15744053;15537898;15496549;15489334;12584440;12581520;12477932;12379855;12139982;11696554;19628819;23050764;22397221;22964302 259289 P59537;Q50KJ2 AB199182;ABBA01067811;AC018630;AC242308;AC243974;AF494237;AY114089;BC101155;BC117423;NM_176884;XM_003960991 AAI01156;AAI17424;AAM19328;AAM63539;BAD98056;NP_795365;P59537;XP_003961040 Hs.688195 T2R43;T2R52 OTTHUMP00000229432;taste receptor type 2 member 43;taste receptor type 2 member 52 APPROVED protein-coding ENSG00000255374 18875 18152 612668 PROVISIONAL 1351386 TAS2R6 taste receptor, type 2, member 6 7 q34 141487614 141488436 + 12679530;15496549 448990 AACC02000020;ABBA01034110;AC004979;AMYH01017998;AX097706;AY724963;BK001060;CH236950;NG_004700 PS3;T2R06;T2R6 taste receptor, type 2, member 6 pseudo 20616 INFERRED 1342939 TAS2R62P taste receptor, type 2, member 62, pseudogene 7 7 7 q35 137971357 137972295 + 142844250 142845188 + 143134128 143135066 + 15496549;12679530;12584440 338399 AACC02000107;ABBA01034137;AC092214;AMYH01018008;AY114096;AY724964;BK001058;CH236959;NG_002653 PS1;T2R62;TAS2R62 APPROVED pseudo 20640 INFERRED 1345577 TAS2R63P taste receptor, type 2, member 63 pseudogene 12 12 12 p13.2 16348994 16349878 - 11092238 11093122 - 11200956 11201855 - 15496549;12679530;12584440 338413 ABBA01067809;AC018630;AC243974;AMYH01004281;AY114097;AY724950;BK001063;NG_002675 1704224 SHGC-83138 PS6;T2R63 pseudo 20641 INFERRED 1351930 TAS2R64P taste receptor, type 2, member 64 pseudogene 12 12 12 p13.2 14815892 14816821 + 11121179 11122108 - 11229944 11230841 - 15496549;12679530;12584440 338412 ABBA01067811;AC018630;AY114098;AY724952;BK001059;NG_002674 PS2;T2R64;T2R64P pseudo 20642 INFERRED 1348917 TAS2R65P taste receptor, type 2, member 65 pseudogene 12 p13.2 11202642 11203560 - 15496549;12679530;12584440 338414 AC134349;AY114099;AY724948;BK001061;NG_002676 PS4;T2R65;TAS2R65 pseudo 20643 6482901 TAS2R67P taste receptor, type 2, member 67 pseudogene 12 p13.2 11332139 11333061 - 12679530;15496549 448991 ABBA01067813;AC010176;AMYH01004281;AY724949;BK001062;NG_004701 PS5 pseudo 43898 INFERRED 6482900 TAS2R68P taste receptor, type 2, member 68 pseudogene 12679530;15496549;15744053 100653053 AB199304;ABBA01067813;AC242308;AMYH01004281;AY724934;BK001064;NG_004699 PS7;T2R68P pseudo 43905 INFERRED 1345755 TAS2R44 taste receptor, type 2, member 44 12 p13.2 11074253 11075273 - 1580863;6480464 17702579;15537898;15496549;15489334;15337684;12584440;12581520;12477932;12379855;12139982;11696554 259290 P59538 AC018630;AF494228;AY114090;AY724942;BC117421;CH471094;CS008275;CS008277;NM_176885 AAI17422;AAM19319;AAM63540;AAU21144;CAI53589;CAI53590;EAW96226;NP_795366;P59538 Hs.688197 T2R44;T2R53 protein-coding 18881 18153 612669 1346988 TAS2R48 taste receptor, type 2, member 48 12 p13.2 11065538 11066437 - 1580863;6480464 17081983;15744053;15496549;15489334;12581520;12477932;12379855;12139982;11696554 259294 P59542;Q50KF8;Q50KF9;Q71U75 AB199215;AB199216;AB199217;AC018630;AF116728;AF494234;AY724939;BC101804;BC111998;CH471094;CS008305;NM_176888 AAI01805;AAI11999;AAM19325;AAO15304;AAU21141;BAD98088;BAD98089;BAD98090;CAI53604;EAW96225;NP_795369;P59542;Q50KF8;Q50KF9;Q71U75 Hs.687025;Hs.688196 MGC126853;MGC138203;MSTP058;T2R48 protein-coding 18879 18156 613961 1350205 TAS2R49 taste receptor, type 2, member 49 12 p13.2 11039828 11041741 - 1580863;6480464 15744053;15496549;15489334;12584440;12581520;12477932;12379855;12139982;11696554 259295 P59543;Q496D7;Q50KF2;Q50KF3;Q50KF4 AB199221;AB199222;AB199223;AC018630;AF494236;AY114092;AY724938;BC100915;BC100916;BC100917;BC100918;BC113843;BC114451;CH471094;CS008321;N24163;NM_176889 AAI00916;AAI00917;AAI00918;AAI00919;AAI13844;AAI14452;AAM19327;AAM63542;AAU21140;BAD98094;BAD98095;BAD98096;CAI53612;EAW96224;NP_795370;P59543;Q496D7;Q50KF2;Q50KF3;Q50KF4 Hs.686384 MGC119118;MGC119119;MGC119120;MGC119121;MGC134637;T2R49;T2R56 protein-coding 18880 18157 613962 1353421 TAS2R5 taste receptor, type 2, member 5 This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] 7 7 7 q31.3-q32 136211655 136212804 + 141136486 141137635 + 141490017 141491166 + 1580863;6480464 10761934;10761935;17108952;15744053;15496549;15489334;12853948;12690205;12581520;12477932;12139982;11696554;10774719;10766242;10766221;10737800;17207965;23568457 54429 A4D1U0;Q502V5;Q9NYW4 AACC02000020;AB199028;AB199029;AB199030;ABBA01034110;AC004979;AF227132;AMYH01017998;AW881072;BC069509;BC095522;BC101586;BC101588;CH236950;CH471070;CS008155;NM_018980 AAF43905;AAH69509;AAH95522;AAI01587;AAI01589;AAS02040;ADQ32871;BAD97933;BAD97934;BAD97935;CAI53529;EAL24015;EAW83984;NP_061853;Q9NYW4 Hs.675370 5493357;5493977 UniSTS:480616;UniSTS:485833 MGC126635;MGC126637;T2R5 OTTHUMP00000212310;taste receptor type 2 member 5 APPROVED protein-coding ENSG00000127366 14912 05453 605062 REVIEWED 1347652 TAS2R60 taste receptor, type 2, member 60 7 7 7 q35 137977775 137978731 + 142850668 142851624 + 143140546 143141502 + 1580863;6480464 12584440;15744053;15496549;15489334;12690205;12679530;12581520;12477932;12139982;11696554 338398 P59551;Q50KC8 AACC02000107;AB199253;AB199254;AB199255;ABBA01034137;AC092214;AMYH01018008;AY114094;AY724955;BC100938;BC100939;BC100940;BC100941;BK001100;CH236959;CS008343;NM_177437 AAI00939;AAI00940;AAI00941;AAM63544;AAU21151;BAD98119;BAD98120;BAD98121;CAI53623;DAA01207;EAL23790;NP_803186;P59551 Hs.688222 2106689;5493087 TAS2R60__5212;UniSTS:484188 MGC119154;MGC119155;T2R56;T2R60 OTTHUMP00000206897;taste receptor type 2 member 56;taste receptor type 2 member 60 protein-coding ENSG00000185899 20639 18159 613968 PROVISIONAL 1347137 TAS2R7 taste receptor, type 2, member 7 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16102458 16103553 - 10845398 10846493 - 10954131 10955226 - 634075;1580863;6480464 10761934 15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10761935 50837 Q50KV7;Q9NYW3 AB199037;AB199038;AB199039;ABBA01067807;AC006518;AF227133;AMYH01004280;BC069091;BC093992;BC113561;CH471094;CS008169;NM_023919 AAF43906;AAH69091;AAH93992;AAI13562;BAD97941;BAD97942;BAD97943;CAI53536;EAW96208;NP_076408;Q9NYW3 Hs.533754 2106691;5493275;5494007 TAS2R7__5213;UniSTS:480718;UniSTS:485587 MGC142121;T2R7;TRB4 OTTHUMP00000238874;taste receptor family B member 4;taste receptor type 2 member 7;taste receptor, family B, member 4 APPROVED protein-coding ENSG00000121377 14913 16071 604793 REVIEWED 1347594 TAS2R50 taste receptor, type 2, member 50 TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008] 12 12 12 p13.2 16286527 16287526 - 11029779 11030778 - 11138512 11139511 - 1580863;6480464 17975119;17967605;16175505;15744053;15496549;15489334;12584440;12581520;12477932;12379855;12139982;11696554;19023099;19709766;19817411;22192511 259296 P59544;Q50KE4 AB199231;AB199232;AB199233;ABBA01067808;AC018630;AF494235;AMYH01004281;AY114088;BC112100;CH471094;CS008125;CS008335;CS008337;NM_176890 AAI12101;AAM19326;AAM63538;BAD98104;BAD98105;BAD98106;CAI53514;CAI53619;CAI53620;EAW96223;NP_795371;P59544 Hs.688194 2218818 TAS2R50__5211 MGC138305;T2R50;T2R51;TAS2R51 OTTHUMP00000222578;taste receptor type 2 member 50;taste receptor type 2 member 51 APPROVED protein-coding ENSG00000212126 18882 18158 609627 VALIDATED 7240975 TATDN1P1 TatD DNase domain containing 1 pseudogene 1 728737 ABBA01019497;AL607128;AMYH01002777;NG_011726 1678787 RH80661 pseudo 45058 INFERRED 4889221 TATDN2P1 TatD DNase domain containing 2 pseudogene 1 X X X p11.3 48283082 48285655 + 44027090 44030436 + 44143312 44145885 + 100131103 ABBA01046390;ABBA01046391;AL133344;AMYH01022240;NG_011742;NG_021391 FLJ22843 pseudo 39254 INFERRED 4889287 TATDN2P2 TatD DNase domain containing 2 pseudogene 2 6 6 q25 159678358 159680742 - 159030360 159032744 - 100272205 ABBA01021087;AL591025;AMYH01016790;NG_011739 KIAA0218 pseudo 39255 INFERRED 4889242 TATDN2P3 TatD DNase domain containing 2 pseudogene 3 13 13 4882052 4884323 + 23819046 23821320 + 100420458 ABBA01007872;AL160256;AMYH01004968;NG_024898 pseudo 39256 INFERRED 1344558 TAS2R8 taste receptor, type 2, member 8 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16106977 16107906 - 10849917 10850846 - 10958650 10959579 - 634075;1580863;6480464 10761934 15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10761935;17207965;21670512 50836 Q50KU2;Q9NYW2 AB199051;AB199052;AB199053;ABBA01067807;AC006518;AF227134;AMYH01004280;AY724935;BC069084;BC069551;BC096701;BC096735;BC098167;BC098353;CH471094;CS008179;NM_023918 AAF43907;AAH69084;AAH69551;AAH96701;AAH96735;AAH98167;AAH98353;AAU21137;ADQ31922;BAD97955;BAD97956;BAD97957;CAI53541;EAW96209;NP_076407;Q9NYW2 Hs.533755 2106693;5492425 TAS2R8__5214;UniSTS:481009 T2R8;TRB5 OTTHUMP00000238875;taste receptor family B member 5;taste receptor type 2 member 8;taste receptor, family B, member 5 APPROVED protein-coding 14915 16072 604794 REVIEWED 1313148 TATDN1 TatD DNase domain containing 1 8 8 8 q24.13 121688850 121739446 - 125569930 125620492 - 125500735 125551329 - 737633;6480464 12477932 14713272;14702039;22863883;21906983 83940 E5RG17;E5RG62;E5RGF2;E5RH86;E5RI69;E5RID7;E5RJY6;E5RK70;G5EA19;H0YBX2;Q6P1N9 ABBA01037898;ABBA01037899;ABBA01037900;AC090198;AF212250;AK094861;AK125270;AK312204;AMYH01019008;AMYH01019009;AV729364;AY071865;BC007066;BC064964;CH471060;NM_001146160;NM_032026;NR_027427 AAH64964;AAK14933;AAL61823;BAG35137;EAW92065;EAW92066;EAW92067;NP_001139632;NP_114415;Q6P1N9 Hs.170568 1678787;1686828;1756011;2161666;2185776;5022322;5022578;5022651;5024761;5093848;5109281 A009X39;D11S2560;D11S2921;D1S1423;D1S1425;G32960;RH36225;RH36905;RH80661;RH99052;SHGC-142827 CDA11;FLJ43280 OTTHUMP00000228327;OTTHUMP00000228328;OTTHUMP00000228329;OTTHUMP00000228330;OTTHUMP00000228331;OTTHUMP00000228335;hepatocarcinoma high expression protein;putative deoxyribonuclease TATDN1 protein-coding ENSG00000147687 24220 11621 VALIDATED 1342904 TAS2R9 taste receptor, type 2, member 9 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008] 12 12 12 p13 16110019 16111093 - 10852960 10854034 - 10961693 10962767 - 634075;1580863;6480464 10761934 19092995;15744053;15496549;15489334;12581520;12477932;12139982;11696554;10774719;10766242;10761935 50835 Q9NYW1 AB199063;AB199064;AB199065;ABBA01067807;AC006518;AF227135;AMYH01004280;BC069066;BC095519;CH471094;CS008191;NM_023917 AAF43908;AAH69066;AAH95519;BAD97966;BAD97967;BAD97968;CAI53547;EAW96210;NP_076406;Q9NYW1 Hs.272391 2108957;5492533 TAS2R9__5215.2;UniSTS:481515 T2R9;TRB6 OTTHUMP00000238876;taste receptor family B member 6;taste receptor type 2 member 9;taste receptor, family B, member 6 APPROVED protein-coding ENSG00000121381 14917 07266 604795 REVIEWED 736963 TAT tyrosine aminotransferase This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008] 16 16 q22.1 70158255 70168496 - 71600754 71610998 - 1600125;1580863;1300048;6480464;6484113;6907045;7240710 1357662 1973834;18945316;18721127;16917729;16892178;16574453;15027097;12477932;12417987;9544843;7999802;7908801;6124417;4389443;2891604;2870018;1356171;12588988;20209601;21636300;22286219;22916037 6898 P17735;Q8WW92 ABBA01016778;AC010547;AK313380;AMYH01007788;BC020707;BC022292;BC130534;CH471166;NG_008235;NM_000353;X52509;X52520;X55675 AAH20707;AAI30535;ADR82987;BAG36178;CAA36749;CAA36750;CAA39210;EAW59230;EAW59231;NP_000344;P17735 Hs.161640 1668040;1706380;2110771;2168040;5118444;5120215;5491667 D11S3316;G10523;GDB:210937;MARC_7235-7236:996687672:1;SHGC-11957;SHGC-80760;TAT__5216 L-tyrosine:2-oxoglutarate aminotransferase;OTTHUMP00000174923;tyrosine aminotransferase;tyrosine aminotransferase, cytosolic APPROVED protein-coding 11573 11776 276600;613018 REVIEWED 1349644 TATDN2 TatD DNase domain containing 2 3 3 3 p25.3 10225985 10258714 + 10265596 10297902 + 10290177 10322906 + 1580863;6480464 18954468;15342556;15302935;12477932;9039502;20800603;16751776;22990118 9797 H7BZJ2;H7C1D0;H7C1W4;Q93075 ABBA01020381;ABBA01020382;AC022384;AK289794;AK311203;AMYH01012969;AW274827;BC090935;BC101770;BC101776;BG674405;BP249277;CH471055;D86972;NM_014760 AAH90935;AAI01771;AAI01777;BAA13208;BAF82483;EAW64070;EAW64071;EAW64072;NP_055575;Q93075 Hs.475401 1735140;1735142;1735240;1773933;1847394;2106695;2117132;2159038 D3S2801E;D3S2802E;D3S2847E;D3S2905E;G31034;RH25425;RH47463;TATDN2__5217 KIAA0218;MGC126819;MGC126825 OTTHUMP00000207800;OTTHUMP00000207801;OTTHUMP00000207802;OTTHUMP00000207804;putative deoxyribonuclease TATDN2 protein-coding ENSG00000157014 28988 18712 VALIDATED 1604534 TATDN3 TatD DNase domain containing 3 1 1 1 q32.3 186191182 186216161 + 211031808 211056591 + 212965170 212990167 + 6480464 16344560;12477932;12136098;16712791;20877624 128387 E9PP81;E9PPF0;E9PQP8;E9PRA1;H0YCC7;H0YCN0;H0YD82;Q4G0L1 ABBA01048165;AC104333;AI990055;AJ329885;AK293129;AK295335;AK304557;AL832248;AMYH01001710;BC048115;BC113638;BC117485;BC143956;BC143957;CB118191;CH471100;DB351940;DB456872;NM_001042552;NM_001042553;NM_001146169;NM_001146170;NM_001146171 AAH48115;AAI13639;AAI17486;AAI43957;ADR82915;BAH11457;BAH12035;BAH14214;EAW93376;EAW93377;EAW93378;NP_001036017;NP_001036018;NP_001139641;NP_001139642;NP_001139643;Q17R31 Hs.530538 1769357;2148758;5015881;5022450;5022623 AL009938;D10S275;D11S2687;GDB:335751;SHGC-76326 MGC142198 OTTHUMP00000034926;OTTHUMP00000034927;OTTHUMP00000231058;OTTHUMP00000231060;OTTHUMP00000231061;OTTHUMP00000231071;OTTHUMP00000231080;putative deoxyribonuclease TATDN3 protein-coding ENSG00000203705 27010 VALIDATED 1318453 TASP1 taspase, threonine aspartase, 1 This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 p12.1 13440107 13689648 - 13318036 13567583 - 13370036 13619583 - 6480464 18395097;16537915;16216576;15489334;14702039;14636557;12482972;12477932;11780052;20516119;12393701;21084304;21832049;22570686;21418451 55617 B7Z690;B7Z963;H7BZ38;Q5JWM4;Q9H6P5 ABBA01053964;ABBA01053965;ABBA01053966;ABBA01053967;AK000219;AK025671;AK299940;AK304488;AK316311;AL121754;AL121782;AL158089;AL601028;AMYH01011723;AMYH01011724;BC025266;CA418131;CH471133;CS001898;HB869056;HC926465;NM_017714 AAH25266;BAA91018;BAB15209;BAH13176;BAH14199;BAH14682;CBF58493;CBU83928;EAX10314;EAX10315;EAX10316;EAX10317;NP_060184;Q9H6P5 Hs.348297 1335962;1341421;2146073;2157169;7187992 D20S172;D20S774;D20S915;Z94458 C20orf13;FLJ20212;MGC39159;dJ585I14.2 OTTHUMP00000030296;OTTHUMP00000030299;taspase 1;taspase-1;threonine aspartase 1 APPROVED protein-coding ENSG00000089123 15859 07460 608270 REVIEWED 1351979 TAZ tafazzin This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008] X X q28 153293071 153303259 + 153639877 153650065 + 1578363;1580863;6480464;6907045;7240710 11896212 8248200;12930833;17043667;11118295;16873891;15304507;16857210;19261493;18799610;16381901;16344560;16020776;15793838;15499385;15489336;15098233;12477932;12032589;11238270;11076863;10484795;10407787;9382097;9382096;9332651;8889548;8630491;8281148;8042670;7616547;5455540;16169070;19700766;20474083;19619503;18029348;20858893;22692215;20301486;23345479;23031367;22078877;23200781;23432031;23372686 6901 C9J699;C9J9M1;F2Z2H6;H7C2I9;Q5HY46;Q86XQ7;Q96F92 ABBA01045286;ABBA01045287;AC244090;AC245140;AK130900;AK291848;AMYH01023315;AY231461;AY231462;AY231463;AY231464;AY258036;AY258037;AY258038;AY258039;BC005062;BC011515;BI822925;BX401320;BX936347;CA488175;CH471172;CN478633;DB192394;DQ173574;DQ173592;DQ173593;DQ173594;DQ173595;DQ173596;DQ173597;DQ173598;DQ173599;DQ173600;DQ173601;DQ173602;DQ173603;DQ173604;DQ173605;DQ173606;DQ173607;DQ173608;DQ173609;DQ173610;DQ173611;DQ173612;DQ173613;DQ173614;DQ173615;DQ173616;DQ173617;DQ173618;DQ173619;DQ173620;DQ173621;DQ173622;DQ173623;DQ173624;DQ173625;DQ173626;DQ173627;DQ173628;DQ173629;DQ173630;DQ173631;DQ173632;DQ173633;DQ173634;DQ173635;DQ173636;DQ173637;DQ173638;DQ173639;DQ173640;DQ173641;DQ173642;DQ884408;NG_009634;NM_000116;NM_181311;NM_181312;NM_181313;NR_024048;X74607;X87198;X92762;X92763 AAH11515;AAO84335;AAO84336;AAO84337;AAO84338;AAO84339;AAO84340;AAO84341;AAO84342;ABB72780;ABC25731;ABC25736;ABC25741;ABC25746;ABC25751;ABC25756;ABC25760;ABC25765;ABC25770;ABC25775;ABC25780;ABC25785;ABC25790;ABC25795;ABC25800;ABC25805;ABC25810;ABC25815;ABC25820;ABC25825;ABC25830;ABC25835;ABC25840;ABC25845;ABC25850;ABC25855;ABC25860;ABC25865;ABC25870;ABC25875;ABC25880;ABC25885;ABC25890;ABC25895;ABC25900;ABC25905;ABC25910;ABC25915;ABC25920;ABC25925;ABC25930;ABC25935;ABC25940;ABC25945;ABC25950;ABC25955;ABC25960;ABC25965;ABC25970;ABC25975;ABC25980;ABI63375;BAF84537;CAA63418;CAA63419;CAL37875;CAL38083;EAW72717;EAW72718;EAW72719;EAW72720;EAW72721;EAW72722;EAW72723;EAW72724;EAW72725;EAW72726;EAW72727;EAW72728;EAW72729;EAW72730;NP_000107;NP_851828;NP_851829;NP_851830;Q16635 Hs.409911 1647559;1703070;1744617;1748067;1748071;1800854;1805268;1806180;1808240;1811224;1812434;1813728;1832566;1838744;2036902;2036904;2036906;2036908;2036910;2036912;2036914;2036916;2036918;2036920;2036922;2036924;2036926;2036928;2036930;2036932;2036934;2036936;2036938;2036940;2036942;2036944;2036946;2036948;2036950;2036952;2036954;2036956;2036958;2036960;2036962;2036964;2036966;2036968;2036970;2036972;2036974;2036976;2036978;2036980;2036982;2036984;2036986;2036988;2036990;2036992;2036994;2036996;2102520;2102522;2102524;2102526;2102528;2102530;2102532;2106697;2159883;5019917 DXS7010E;DXS7068;ECD01292;ECD03579;ECD04044;ECD05101;ECD06610;ECD07224;ECD07887;ECD17423;ECD20550;G54832;G65811;G65814;GDB:548776;REN89462;REN89463;REN89464;REN89465;REN89466;REN89467;REN89468;REN89469;REN89470;REN89471;REN89472;REN89473;REN89474;REN89475;REN89476;REN89477;REN89478;REN89479;REN89480;REN89481;REN89482;REN89483;REN89484;REN89485;REN89486;REN89487;REN89488;REN89489;REN89490;REN89491;REN89492;REN89493;REN89494;REN89495;REN89496;REN89497;REN89498;REN89499;REN89500;REN89501;REN89502;REN89503;REN89504;REN89505;REN89506;REN89507;REN89508;REN89509;SGC32232;TAZ__5218;stSG604031;stSG604032;stSG604033;stSG604034;stSG604035;stSG604036;stSG604037 BTHS;CMD3A;EFE;EFE2;FLJ27390;G4.5;LVNCX;Taz1;XAP-2 OTTHUMP00000031946;OTTHUMP00000031947;OTTHUMP00000031948;OTTHUMP00000031949;OTTHUMP00000064897;OTTHUMP00000179045;OTTHUMP00000198778;OTTHUMP00000207081;protein G4.5;tafazzin APPROVED protein-coding ENSG00000102125 11577 02316 300394;302060 REVIEWED 1322498 TBATA thymus, brain and testes associated 10 10 10 q22.1 65812948 65827109 - 72201001 72215163 - 72530995 72545157 - 6480464 18208870;16344560;15164054;14702039;12477932;16385451;19918778;20937703 219793 F5H4G4;Q5T4G3;Q96M53 ABBA01019635;AK057382;AK303242;AK303344;AK310699;AK310732;AL358817;AMYH01002815;BC060774;BC137543;BC137544;BC139728;BC144692;BC144694;BC144695;CH471083;DB032601;DB147708;NM_152710 AAI37544;AAI37545;AAI39729;AAI44693;AAI44695;BAB71459;BAH13923;BAH13946;EAW54411;EAW54412;EAW54413;NP_689923;Q96M53 Hs.386698 1681644 RH92869 C10orf27;FLJ32820;spatial OTTHUMP00000019760;protein SPATIAL;protein TBATA;stromal protein associated with thymii and lymph node homolog;thymus, brain and testes-associated protein APPROVED protein-coding ENSG00000166220 23511 08500 612640 VALIDATED 1348047 TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1 This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] 7 7 p15 27746263 27835911 + 27778992 27869386 + 6480464 10920205;10435631;18434448;17635994;16381901;15489336;15489334;15342556;15231748;14697242;14530271;12853948;12690205;12477932;11893730;11389905;11230166;11076863;9847074;19131965;16169070;19285159;17703191;18239685;18246070;20185725;20734064;20304918;20549079;9733879;15474016;21282516;8889548;23308279;23383273;22997707;19820708;19609363;21885437;21988832;23000965;23209807;17623298;21987572;21139048;21890473;21906983;16999686;23018911 8887 A4D196;B4DSG5;B8ZZD4;C9J7J4;C9JBZ7;F8WBU9;H7C3L5;Q86VP1 AA481381;AACC02000007;ABBA01056775;ABBA01056776;AC004549;AC005091;AF090891;AF268075;AK000098;AK296720;AK299729;AK301064;AK309757;AK314292;AL136586;AMYH01017134;BC024600;BC050358;BP280714;BU679319;CH236948;CH471073;CR457056;CR533556;DB455556;DB553566;DC424592;NG_029523;NM_001079864;NM_001206901;NM_001206902;NM_006024;U33821 AAA75595;AAC13359;AAD15412;AAF24016;AAG03025;AAH50358;BAG36949;BAG59309;BAG61627;BAG62671;CAB66521;CAG33337;CAG38587;CAL38710;EAL24213;EAW93901;EAW93902;EAW93903;EAW93904;NP_001073333;NP_001193830;NP_001193831;NP_006015;Q86VP1 Hs.34576 1336889;1648188;1798240;2164718;2166568;2174271;2176661;7184891 A007A09;D7S2416;RH65631;SGC31789;SGC32601;TAX1BP1_2449;WI-11921 CALCOCO3;T6BP;TXBP151 OTTHUMP00000122540;OTTHUMP00000122541;OTTHUMP00000202276;TRAF6-binding protein;tax1-binding protein 1 APPROVED protein-coding ENSG00000106052 11575 05618 605326 REVIEWED 1607066 TBC1D10B TBC1 domain family, member 10B Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010] 16 16 16 p11.2 29917190 29930290 + 30275924 30288402 - 30368422 30381522 - 6480464 19077034;16368877;15302935;14702039;12477932;9110174;8619474;20404108;23000965;23383273;21890473;22354992 26000 H3BSE1;Q9UFP2 AB449895;ABBA01042020;ABBA01042021;AC106782;AF370370;AI672923;AK002101;AK023192;AL117408;AMYH01007497;AY007150;BC028737;BC038994;BC050523;BC063112;BC072453;BC093814;BC093816;BC098419;BY795947;CH471192;NM_015527 AAH50523;AAH63112;AAH72453;AAH93814;AAH93816;AAH98419;AAQ15206;ABZ92318;BAA92086;BAB14454;BAH16638;CAB55908;EAW52256;EAW52257;EAW52258;NP_056342;Q4KMP7 Hs.632182 1778355;2172587 SHGC-60983;SHGC-61105 DKFZp434P1750;EPI64B;FP2461 OTTHUMP00000163229;Rab27A-GAPbeta;TBC1 domain family member 10B;rab27A-GAP-beta APPROVED protein-coding ENSG00000169221 24510 10892 613620 VALIDATED 1318972 TAX1BP3 Tax1 (human T-cell leukemia virus type I) binding protein 3 17 17 17 p13 3579928 3585715 - 3512938 3518722 - 3566187 3571973 - 1580863;6480464 10940294;18690705;16855024;15492812;15489334;14702039;12874278;12477932;11163757;10673275;9482110;8619474;16169070;14679154;19635485;17207965;16712791;20211142;8889548;22939629;21787750;21139582;19609363;22564736;18835279;23028987;22876914 30851 O14907 ABBA01054742;AC027796;AC132942;AF028823;AF168787;AF234997;AF277318;AK001327;AK315408;AMYH01008032;BC023980;BM973411;CB129195;CH471108;NM_001204698;NM_014604;U90913 AAB84248;AAF43104;AAG44368;AAH23980;AAK69111;ADQ32196;BAG37800;EAW90491;EAW90492;EAW90493;NP_001191627;NP_055419;O14907 Hs.12956 1760259;1767337;1847322;2118456;2143969 A008L05;D15S1258;RH78618;SHGC-132568;SHGC-36073 TIP-1 OTTHUMP00000115871;Tax interaction protein 1;glutaminase-interacting protein 3;tax-interacting protein 1;tax1-binding protein 3 protein-coding ENSG00000213977 30684 18160 VALIDATED 1318412 TBC1D13 TBC1 domain family, member 13 9 9 9 q34.11 102200284 102223500 + 130589432 130612532 + 131549510 131572711 + 737633;6480464 12477932 19077034;14702039;22939629;21139048;22762500 54662 B3KW04;Q9NVG8 AB209565;AB449899;ABBA01043902;ABBA01043903;AK001605;AK027457;AK123828;AK289777;AK295183;AK307556;AL441992;AMYH01021752;BC014898;BC132817;BC136509;BC150311;CH471090;DC325060;NM_018201 AAI32818;AAI36510;AAI40081;AAI43011;AAI50312;ADR83162;BAA91784;BAD92802;BAF82466;BAG51325;BAG53966;BAG58188;BAH16642;EAW87832;EAW87833;EAW87834;EAW87835;EAW87836;NP_060671;Q9NVG8 Hs.3376 1729817;1855551;2144160;2191609 A006Z27;D9S61;MARC_27502-27503:1034792889:3;RH35816 FLJ10743;RP11-545E17.5 OTTHUMP00000022297;OTTHUMP00000022298;TBC1 domain family member 13 protein-coding ENSG00000107021 25571 18163 VALIDATED 1605322 TBC1D10A TBC1 domain family, member 10A 22 22 22 q12.2 14487683 14522588 - 29017979 29052894 - 30687979 30722955 - 6480464 16923811;11285285;18029348;19077034;18450757;17145964;15998911;15790807;15461802;14702039;12477932;10591208;9847074;20360009;16344560;22219378;21044950;22354992;21139048;21890473;21906983;22505724;20404108;21963094;23000965;18387192 83874 A7E244;B5MD46;B7ZVY9;F8W9Y7;F8WCD1;F8WDN6;Q20WK7;Q9BXI6 AB449894;ABBA01055293;AC004997;AF331038;AK074656;AK093231;AK127939;AK131086;AK309455;AMYH01012705;BC022201;BC136815;BC142940;BC150187;BC150214;BC171775;CH471095;CQ783540;CT841514;DA944522;NM_001204240;NM_031937 AAC23434;AAI36816;AAI42941;AAI43052;AAI43053;AAI50188;AAI50215;AAI71775;AAK35048;BAC11117;BAC85136;BAG52675;BAG54600;BAH16637;CAF86715;CAJ86444;EAW59871;EAW59872;EAW59873;EAW59874;EAW59875;EAW59876;EAW59877;NP_001191169;NP_114143;Q9BXI6 Hs.655273 1339153;1652230;5109362 A002C11;D17S1239;D22S531 EPI64;TBC1D10;dJ130H16.1;dJ130H16.2 EBP50-PDX interactor of 64 kDa;EBP50-PDZ interactor of 64 kD;H_DJ130H16.1a;H_DJ130H16.1b;OTTHUMP00000198729;OTTHUMP00000198730;OTTHUMP00000198731;OTTHUMP00000198732;OTTHUMP00000198733;OTTHUMP00000198735;OTTHUMP00000198736;OTTHUMP00000198738;OTTHUMP00000198739;TBC1 domain family member 10A;WUGSC:H_DJ130H16.1a;WUGSC:H_DJ130H16.1b;rab27A-GAP-alpha protein-coding ENSG00000099992 23609 18162 610020 VALIDATED 1349688 TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008] 4 4 4 p14 38332894 38580988 + 37569115 37817189 + 37892705 38140796 + 6480464 15592455;10965142;19115052;19077034;18325908;17274760;16893906;16303743;15489334;15324660;15231748;14702039;12477932;12168954;10470851;19913121;20628086;20379614;22851577;21454505;22990118;18258599;20837646;21078596;21505148;16344560;21139048;22354992;17979178;22699663;23153538;23266558 23216 B5MCJ2;B9A6J6;C9JIE2;H0Y8P0;H0YA01;H7C0Z7;H7C380;Q6PJJ8;Q86TI0;Q8NC59 AB029031;AB449881;ABBA01074313;ABBA01074314;ABBA01074315;ABBA01074316;ABBA01074317;ABBA01074318;AC021106;AC098680;AC108933;AK027355;AK057182;AK074954;AK295746;AK303574;AMYH01014113;AMYH01014114;AW364769;BC014529;BC028196;BC029950;BC032337;BC050321;BC053648;BC126979;BQ672157;CQ783774;CR996632;DB036208;NM_001253912;NM_001253913;NM_001253914;NM_001253915;NM_015173 AAH14529;AAH50321;AAH53648;AAI26980;BAA83060;BAB55057;BAC11312;BAG51876;BAG64594;BAH12175;BAH16624;CAF86855;NP_001240841;NP_001240842;NP_001240843;NP_001240844;NP_055988;Q86TI0 Hs.176503 1298182;1648953;1652381;1652781;1687087;1705106;1714901;1718035;1723237;1725193;1735384;1761777;1761779;1767813;1771166;1772763;1774352;1778826;1854417;2109711;2109923;2120488;2122774;2134821;2150439;2178171;2178173;2182055;5093166;5093324;7186709 A009I01;A009L27;D4S1581;D4S2507E;D4S2540E;D4S2861;D4S486;G32559;G32652;G41984;PTTG2_3222;RH120445;RH122305;RH122634;RH124070;RH16463;RH35896;RH47722;RH92557;SHGC-145740;SHGC-145741;SHGC-24087;SHGC-33904;SHGC-34270;SHGC-53709;SHGC-59210;SHGC-67659;SHGC-79973;TBC1D1_9321;WI-22198 KIAA1108;TBC;TBC1 OTTHUMP00000196987;OTTHUMP00000196994;OTTHUMP00000218150;TBC1 domain family member 1 APPROVED protein-coding ENSG00000065882 11578 18161 609850 VALIDATED 1606878 TBC1D10C TBC1 domain family, member 10C The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] 11 11 11 q13.2 64504521 64510669 + 66927988 66934136 + 67171384 67177561 + 6480464 17230191;12477932;19913121;20628086;21832049;20404108;19903851 374403 E9PSB7;Q8IV04 ABBA01024034;AK122585;AMYH01003746;AP003419;BC022202;BC035630;BC036873;BC047319;BC062999;BU615963;CH471076;CR979868;HI574212;NM_001256508;NM_198517;NR_046266 AAH36873;AAH62999;BAC56926;CBX47595;EAW74611;EAW74612;EAW74613;EAW74614;EAW74615;NP_001243437;NP_940919;Q8IV04 Hs.534648 CARABIN;EPI64C;FLJ00332;MGC46488 OTTHUMP00000235294;OTTHUMP00000235295;OTTHUMP00000236402;carabin APPROVED protein-coding ENSG00000175463 24702 13330 610831 VALIDATED 1345819 TBC1D16 TBC1 domain family, member 16 17 17 17 q25.3 74539942 74635700 - 75528414 75624242 - 77913819 78009647 - 737633;1580863;6480464 12477932 22354992;19077034;15489334;14702039;21129771;15146197;23019362 125058 B9A6L7;I3L0U9;I3L0V9;I3L1E0;I3L235;I3L4T6;I3L4U2;I3L4U4;Q8N3Z4;Q8TBP0;Q96DH7 AB449902;ABBA01013820;ABBA01013821;ABBA01013822;AC100791;AC116025;AK000755;AK091923;AK097283;AL157485;AL512709;AMYH01008689;AMYH01008690;BC001525;BC028290;BC036947;BC062601;BC080571;BX092567;CH471099;CN361974;CR936670;NM_001271844;NM_001271845;NM_001271846;NM_019020 AAH01525;AAH28290;AAH36947;BAA91361;BAH16645;EAW89574;EAW89575;EAW89576;EAW89577;NP_001258773;NP_001258774;NP_001258775;NP_061893;Q8TBP0 Hs.369819 1681155;1700282;1764539;1773757;1853537;2110879;2123206;2145737 D17S851E;RH103759;RH120869;RH12358;RH46396;RH94345;SHGC-148131;SHGC-56719 FLJ20748;MGC25062 TBC1 domain family member 16 protein-coding 28356 10261 VALIDATED 1343312 TBC1D12 TBC1 domain family, member 12 10 10 10 q23.33 89902294 90036175 + 96152176 96286079 + 96162186 96296089 + 1580863;6480464 16344560;15164054;14702039;12477932;9628581;19077034 23232 O60347 AB011180;AB449898;ABBA01021850;ABBA01021851;ABBA01021852;ABBA01021853;ABBA01021854;ABBA01021855;ABBA01021856;AJ404330;AK090865;AL049956;AL138759;AL355341;AMYH01002965;BC064323;CH471066;DA808973;NM_015188 BAA25534;BAH16641;CAB43225;EAW50040;NP_056003;O60347 Hs.500598 1717801;1725527;1727121;1849585;1849587;1856783;2110773;2174367;2186643;5109281 A002V30;A006A33;D1S1425;G20656;G62964;HSC2FE052;RH119162;RH121811;STS-N40192;TBC1D12__5219 FLJ10339;FLJ12820;KIAA0608 OTTHUMP00000020130;TBC1 domain family member 12 protein-coding ENSG00000108239 29082 VALIDATED 1320638 TBC1D14 TBC1 domain family, member 14 4 4 4 p16.1 6813220 6939146 + 6962473 7085739 + 6911171 7034845 + 737633;1580863;6480464 12477932 19077034;18186464;16344560;15489334;14702039;10718198;20379614;22613832;21900206;23382691 57533 B9A071;C9J541;C9JP26;F5GXK4;H7BZD7;Q9P2M4 AA724344;AB037743;AB449900;ABBA01012731;ABBA01012732;ABBA01012733;ABBA01012734;ABBA01012735;ABBA01012736;AC092463;AC097382;AC106045;AK056962;AK295068;AL833868;AMYH01013920;AMYH01013921;BC024966;BC041167;BQ230652;CH471131;DA317176;DA492919;DA754761;NM_001113361;NM_001113363;NM_020773 AAH41167;ADZ15637;BAA92560;BAG58115;BAH16643;CAD38726;EAW82375;EAW82376;EAW82377;NP_001106832;NP_001106834;NP_065824;Q9P2M4 Hs.518611 1341731;1646285;1647784;1655415;1657229;1661163;1676224;1685954;1690452;1767415;1767417;1853917;2116152;2126873;2135731;2144984;2146596;2162991;2167584;2173705;7185606 A008M37;Cda0og07;D4S2715;D4S394;D4S514;D7S2827;G33506;G35316;RH48438;RH91338;SHGC-24105;SHGC-24383;SHGC-25112;SHGC-51773;SHGC-59483;SHGC-59564;SHGC-59811;SHGC-67343;SHGC-8654;STS-D51046 FLJ32400;KIAA1322 OTTHUMP00000115576;OTTHUMP00000201962;OTTHUMP00000201965;TBC1 domain family member 14 protein-coding ENSG00000132405 29246 11623 614855 VALIDATED 1320164 TBC1D17 TBC1 domain family, member 17 19 19 19 q13.33 47250191 47261510 + 55072641 55083813 + 50380682 50392007 + 737633;1580863;6480464 12477932 16923123;21145461;19077034;16189514;15489334;14702039;12031486;16169070;22863883;17562788;21139048;21890473;22354992;22854040 79735 M0QXA2;M0QYC9;M0R2L2;Q9HA65 AB449903;ABBA01032908;AC118341;AC118342;AF293463;AI805386;AI927008;AK022230;AK090606;AK092924;AK300007;AK309412;AMYH01009919;AY129013;BC003516;CH471177;CQ871302;NM_001168222;NM_024682 AAH03516;AAK73364;AAM98756;BAB13991;BAG61824;BAH16646;CAH56832;EAW52572;NP_001161694;NP_078958;Q9HA65 Hs.631587 1683239;2110885;2168315;2191519;5015861;5022576;5037552;5491541 D10S16;D19S264E;D1S1361;D8S2279;MARC_17481-17482:1016467169:1;MARC_24330-24331:1030112298:1;RH36488;RH92938 FLJ12168 TBC1 domain family member 17 protein-coding ENSG00000104946 25699 15471 VALIDATED 1317393 TBC1D15 TBC1 domain family, member 15 This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 12 12 12 q21.1 71896776 71983914 + 70519806 70604364 + 72233487 72320629 + 737633;1580863;6480464 12477932 21145461;19077034;17081983;16964243;16923123;16344560;16055087;15592455;15489334;14702039;8125298;20562859;17643375;20363736;20811636;23077178;22863883;16196087;21139048;21890473;21906983;21987572;22190034;22505724;22797925 64786 A8K8E1;C9JA93;F8VV61;F8WAX5;F8WCB5;F8WDJ1;F8WF35;Q8TC07 AB449901;ABBA01026503;ABBA01026504;AC089984;AC090109;AI590346;AK022147;AK090510;AK225221;AK225747;AK292306;AK297626;AK307922;AL157464;AL833639;AMYH01004579;BC028352;CH471054;DA438409;NM_001146213;NM_001146214;NM_022771;NR_027449 AAH28352;ADZ16077;BAB13971;BAF84995;BAG60001;BAH16644;CAB75666;EAW97273;EAW97274;EAW97275;EAW97276;NP_001139685;NP_001139686;NP_073608;Q8TC07 Hs.284630 1648423;1669373;1771337;1778384;2134539;2138628;2162185;5014051;5015619;5019803;5021872;5022200;5037552 A009W15;D11S3114;D8S2278;D8S2279;G32910;L18426;RH66026;RH69814;SHGC-53110;SHGC-56430;STS-Z41726;WI-18145;sY3084 DKFZp686M1379;DKFZp761D0223;FLJ12085;FLJ33191;RAB7-GAP GAP for RAB7;GTPase-activating protein RAB7;OTTHUMP00000213052;OTTHUMP00000213053;OTTHUMP00000241770;TBC1 domain family member 15;Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15;Tre2/Bub2/Cdc16 domain family member 15 APPROVED protein-coding ENSG00000121749 25694 15470 612662 REVIEWED 1315719 TBC1D2 TBC1 domain family, member 2 9 9 9 q22.33 71475593 71532312 - 100001139 100057736 - 100961280 101018003 - 1580863;6480464 19077034;17081983;15302935;12477932;11785977;18029348;20944657;20583170;22863883;22939629;16344560;22354992;23285084;23562278 55357 Q8WYT1 AB209721;AB449882;ABBA01042917;ABBA01042918;AF318370;AK026105;AK124772;AK131290;AK298575;AL137073;AL353935;AL360081;AL591502;AMYH01021561;AY026527;BC028918;BC071978;BX091503;CH471105;DB167423;NM_001267571;NM_001267572;NM_018421;NR_051978 AAH28918;AAH71978;AAK07684;AAL55877;ABM82231;ABM85416;BAB15361;BAD92958;BAG54093;BAG54761;BAG60767;BAH16625;CAB89247;EAW58882;EAW58883;EAW58884;EAW58885;EAW58886;EAW58887;EAW58888;NP_001254500;NP_001254501;NP_060891;Q9BYX2 Hs.371016 1763631;2182313 D9S2007;SHGC-147322 DKFZp761D1823;FLJ10702;FLJ16244;FLJ42782;PARIS-1;PARIS1;TBC1D2A OTTHUMP00000021772;OTTHUMP00000021773;OTTHUMP00000021774;TBC1 domain family member 2A;TBC1 domain family, member 2A;armus;prostate antigen recognized and identified by SEREX 1 protein-coding ENSG00000095383 18026 609871 VALIDATED 1353455 TBC1D21 TBC1 domain family, member 21 15 15 15 q24.1 51045787 51061365 + 71953021 71968608 + 74165968 74181555 + 1580863;6480464 19077034;15489334;12477932;21832049;21128978 161514 B9A6M2;H3BTA9;Q8IYX1 AB449907;ABBA01038705;AC018943;AC108137;AMYH01006780;BC033516;CH471082;HC007320;HC044845;NM_153356 AAH33516;BAH16650;CBH19465;CBH30752;EAW77936;EAW77937;NP_699187;Q8IYX1 Hs.124512 1707234;5111067;5112167 AFM224yf8;RH102066;SHGC-79211 MGC34741;MgcRabGAP OTTHUMP00000174928;TBC1 domain family member 21;male germ cell-specific expressed, containing a RabGAP domain protein-coding ENSG00000167139 28536 15473 PROVISIONAL 1343247 TBC1D19 TBC1 domain family, member 19 4 4 4 p15.2 27036071 27206887 + 26194644 26366015 + 26585546 26756917 + 1580863;6480464 19077034;15592455;15489334;14702039;12477932;8125298;21906983 55296 B9A6M0;D6RA60;D6RA74;D6RD52;D6RDZ1;Q8N5T2 AB449905;ABBA01032727;ABBA01032728;AC093807;AC107390;AF075043;AI034462;AK001944;AK225395;AK289631;AK310795;AMYH01014075;BC031642;CH471069;DC299740;NM_018317 AAH31642;BAA91992;BAF82320;BAH16648;EAW92851;EAW92852;NP_060787;Q8N5T2 Hs.479403 1339948;1672109;1777007;2110179;2175180 D4S1091;SHGC-59484;STS-D25246;WI-15026;stb131K9.p1 FLJ11082 OTTHUMP00000123446;OTTHUMP00000218002;TBC1 domain family member 19 protein-coding ENSG00000109680 25624 07730 VALIDATED 1602007 TBC1D22A TBC1 domain family, member 22A 22 22 22 q13.3 31074220 31486114 + 45537213 45948390 + 47158518 47571342 + 6480464 18029348;19077034;18186464;15489334;15461802;14702039;12529303;12477932;10591208;20834067;20379614;16344560 25771 B0QYI1;B0QYI3;B9A6M3;F8WBF7;F8WDP1;Q9UGU6 AB449908;ABBA01010464;ABBA01010465;ABBA01010466;ABBA01010467;ABBA01010468;ABBA01010469;AK000851;AK055591;AK125705;AK127653;AK301445;AK308039;AK315779;AL023576;AL023733;AL078642;AL096755;AL096779;AL118516;AMYH01012863;AMYH01012864;AMYH01012865;BC001292;BC002743;BC020976;BC029897;CH471138;CR456412;DA990679;DB339610;FP325331;NM_014346;U51559;U51561;Z79999;Z80896;Z81000;Z82187;Z97351 AAD12228;AAH01292;AAH02743;AAH20976;AAH29897;BAC86253;BAG38127;BAG51541;BAG54543;BAG62971;BAH16651;CAB46628;CAG30298;CAK54403;CAK54702;EAW73443;EAW73444;EAW73445;NP_055161;Q8WUA7 Hs.435044 1643992;1658703;1667962;1679235;1711594;1711638;1711652;1711654;1711656;1711658;1711660;1711662;1711664;1711666;1711668;1711670;1711672;1711694;1711696;1711698;1711700;1711702;1711704;1711706;1711708;1711710;1711712;1711714;1711716;1711718;1711720;1711722;1711724;1711726;1711728;1711730;1711732;1711802;1732183;1733234;1747581;1748393;1751257;1752021;1753563;1855527;1857171;1857197;2111970;2111972;2111982;2145646;2159724;2169740;5093280 A009K40;AL008663;AL008673;AL023601;D22S1592;D22S1593;D22S1599;D22S22;D22S295;D22S558;D22S611;G32626;G49298;G49320;G49328;G49329;G49330;G49331;G49332;G49333;G49334;G49335;G49336;G49337;G49338;G49349;G49350;G49351;G49352;G49353;G49354;G49355;G49356;G49357;G49358;G49359;G49360;G49361;G49362;G49363;G49364;G49365;G49366;G49368;G49369;G49426;G65365;G65731;RH66495;RH70665;RH91390;SGC31109;SHGC-105075;SHGC-105969;SHGC-107488 C22orf4;HSC79E021 OTTHUMP00000197069;OTTHUMP00000197263;OTTHUMP00000197264;OTTHUMP00000197267;TBC1 domain family member 22A;putative GTPase activator protein-coding ENSG00000054611 1309 15474 VALIDATED 1346411 TBC1D20 TBC1 domain family, member 20 20 20 20 p13 510958 538015 - 364124 391187 - 416124 443187 - 6480464 22491470;19322201;19077034;17901050;17686842;16344560;15489334;14702039;12477932;11780052;16751776;21832049;21906983;22260459;23236136 128637 B9A6M1;Q96BZ9 AB449906;ABBA01053749;ABBA01053750;AF116909;AK055573;AK092063;AK095110;AK127062;AK291648;AL049761;AL121747;AMYH01011654;AMYH01011655;BC014648;BC014983;BC047616;BX647370;CH471133;DA230581;DA311494;NM_144628 AAD29636;AAH14983;BAC86808;BAF84337;BAH16649;EAX10670;EAX10671;EAX10672;NP_653229;Q96BZ9 Hs.590876 1649149;1655659;1768916;1787838;1846739;1847623;1847625;2147804;2147806;2159291;2180866;5022578;5022651;5037552 A002A04;D11S2921;D1S1423;D8S2279;G09312;G19838;RH16324;RH66094;SHGC-132609;SHGC-36460;SHGC-36522;SHGC-56964;STS-Z41706;WI-21992 C20orf140;FLJ45119 OTTHUMP00000029927;OTTHUMP00000159603;TBC1 domain family member 20 protein-coding ENSG00000125875 16133 15472 611663 VALIDATED 1601860 TBC1D23 TBC1 domain family, member 23 3 3 3 q12.2 98370265 98434664 + 101462546 101525205 + 99979661 100044096 + 6480464 19077034;14702039;12477932;20972266;21139048;22589738;16344560;21988832;22312129;23000965 55773 C9IZ32;C9JAM5;E9PGE5;Q9NUY8 AB449910;ABBA01061790;ABBA01061791;AC078783;AC093003;AK001750;AK001908;AK092926;AL713684;AMYH01013357;AU154297;AY740521;BC010221;BC020955;BX648032;CH471052;DA801258;DB458401;NM_001199198;NM_018309 AAH10221;AAH20955;AAW66944;ADZ15433;BAA91881;BAA91973;BAG52630;BAH16653;CAD28488;EAW79826;EAW79827;NP_001186127;NP_060779;Q9NUY8 Hs.477003 1717183;2121922;2122856;2145402;2175655;2176538;5017787 D3S3387;RH121514;RH47353;SHGC-33725;SHGC-77153;STS-D59625;TBC1D23 DKFZp667G062;FLJ11046;NS4ATP1 HCV non-structural protein 4A-transactivated protein 1;HCV nonstructural protein 4A-transactivated protein 1;OTTHUMP00000213990;OTTHUMP00000213991;OTTHUMP00000213992;TBC1 domain family member 23 protein-coding ENSG00000036054 25622 07727 VALIDATED 1353872 TBC1D22B TBC1 domain family, member 22B 6 6 6 p21.2 38780572 38855711 + 37333526 37408724 + 37225548 37300746 + 6480464 19077034;15998911;15790807;15489334;14702039;14574404;12477932;20379614;19322201 55633 A8KA28;Q9NU19 AB449909;ABBA01038280;AK000344;AK096340;AK292893;AL096712;AL353579;AL589667;AMYH01016282;AY313781;AY927466;AY927467;BC000291;BC000743;BC001927;BC002720;BC047658;BC063523;BC109026;BC109027;BX648317;CH471081;CR749710;NM_017772 AAH00291;AAH00743;AAH01927;AAH02720;AAH63523;AAI09027;AAI09028;AAQ72548;BAA91099;BAF85582;BAH16652;CAH18482;EAX03939;EAX03940;EAX03941;EAX03942;NP_060242;Q9NU19 Hs.731702 1662744;1665093;1666267;1693626;1725261;1770832;1770834;2117124;2135447;2147395;2155374;5093380 A004I44;A005L04;A009N29;G20299;G32684;RH119351;RH12792;RH35717;RH36457;RH37438;RH45235;SHGC-58542 C6orf197;DKFZp762J0110;FLJ20337;MGC125626;MGC125627;RP4-744I24.2;dJ744I24.2 OTTHUMP00000016322;TBC1 domain family member 22B protein-coding ENSG00000065491 21602 15475 VALIDATED 1606524 TBC1D24 TBC1 domain family, member 24 This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011] 16 16 16 p13.3 2760729 2768193 + 2465148 2493500 + 2525147 2555734 + 6480464;7240710 19077034;12477932;10574461;20727515;20797691;21250943;18029348;21890473;21906983 57465 H3BNU1;H3BTP5;H3BV07;Q9ULP9 AB032997;AB449911;ABBA01030252;AC093525;AC106820;AI685478;AK074509;AMYH01007058;BC112389;BC127014;BC127015;BX648283;CH471112;NG_028170;NM_001199107;NM_020705 AAI12390;AAI27015;AAI27016;BAA86485;BAH16654;EAW85503;NP_001186036;NP_065756;Q9ULP9 Hs.353087 1649881;1729614;1740165;1768279;1772891;2172544;2182296;5014051;5015861;5015961;5016478;5020948;5022200;5022463;5022578;5022588;5022651;5024272;7185938;7186396 A009J05;D10S16;D11S2921;D15S1477;D16S284;D16S3014;D16S3309;D1S1423;D2S1254;D3S1673;D5S1597E;D8S2278;G35510;GDB:434012;L18426;RH66407;SHGC-32888;SHGC-60646 EIEE16;FIME;KIAA1171;MGC102885;TLDC6 TBC/LysM-associated domain containing 6;TBC1 domain family member 24 APPROVED protein-coding ENSG00000162065 29203 605021;613577;615338 REVIEWED 1604696 TBC1D26 TBC1 domain family, member 26 17 17 p11.2 15576316 15588823 + 15635591 15648098 + 19077034;16344560;12477932;11347906 353149 J3QLL4;J3QQK9;J3QR66;J3QRI5;Q86UD7 AB449913;ABBA01035678;AC005324;AI631546;AK315847;AMYH01008143;BC028414;BC047400;CH878279;DB067071;EG328144;NM_178571 AAH28414;AAH47400;BAF98738;BAH16656;EAW50388;EAW50389;EAW50390;NP_848666;Q86UD7 Hs.567880 1731148 D17S259 FLJ55788;MGC51025 OTTHUMP00000065211;OTTHUMP00000232928;TBC1 domain family member 26 protein-coding ENSG00000214946 28745 14670 VALIDATED 1351229 TBC1D25 TBC1 domain family, member 25 This gene encodes a protein with a TBC domain and may function as a Rab GTPase activating protein. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jul 2008] X X X p11.23 53244734 53267656 - 48283019 48305941 + 48398075 48420997 + 6480464 19077034;16344560;12618308;12477932;8314581;16484223;21152090;12437969;16923123;21383079;22354992 4943 B4DE92;C9JMI8;Q3MII6 AB449912;ABBA01046015;ABBA01046016;ABBA01046017;ABBA01046018;ABBA01046019;AC115618;AF196969;AJ508600;AK293521;AK293875;AK294776;AK297924;AK298884;AK299561;AK316199;AMYH01022290;BC026050;BC036942;BC041614;BC052609;BC064334;BC082255;BC101817;BC101819;BC125088;BC125089;BC143395;BG328213;BI088539;CA447032;CH471224;DA087200;L08240;NM_002536 AAA59593;AAH26050;AAI01818;AAI01820;AAI25089;BAG57003;BAG57264;BAG57904;BAG60241;BAG60997;BAG61504;BAH14570;BAH16655;EAW50769;EAW50770;EAW50771;EAW50772;NP_002527;Q3MII6 Hs.694353 2112852;2122812;2128719;2134217;2134329;2144714;2152727;2173386;2219224 DXS6675;DXS7927E;DXS9789;DXS9870E;OATL1__6099;RH47499;STS-AA022838;STS-L08240;WI-19793 MG81;MGC126866;MGC126868;MGC149731;MGC149732;OATL1 5SN3 snoRNA;OTTHUMP00000025803;OTTHUMP00000070507;TBC1 domain family member 25;ornithine aminotransferase-like 1 APPROVED protein-coding ENSG00000068354 8092 08948 311240 VALIDATED 1604121 TBC1D3 TBC1 domain family, member 3 17 17 q12 33358323 33369482 + 36337528 36348666 - 6480464 19718026;18319245;16863688;16625196;12612085;12604796;12359748;11230166;8471161;8406013;22348058;18199687;23578663;23535730;23029530 729873 A6NDL0;A8MV28;E5RGJ9;F6U074;H0YB77;K7ERC9;Q6DHY5;Q6IPX1;Q8IZP1 ABBA01012423;ABBA01012424;ABBA01012425;AC183087;AC233700;AK302064;AK303259;AK313329;AMYH01008363;BC047739;NM_001123391;XM_003403880;XM_003403881;XM_003846793;XM_003960984;XM_003960985;XM_003960986;XM_003960987;XM_003960988;XM_003960989 BAG36134;BAG63454;BAG64341;NP_001116863;Q8IZP1;XP_003403928;XP_003403929;XP_003846841;XP_003961033;XP_003961034;XP_003961035;XP_003961036;XP_003961037;XP_003961038 Hs.735975 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ56187;FLJ57364;FLJ58835;FLJ60943;FLJ77836;FLJ93850;PRC17;TBC1D3A;TBC1D3F OTTHUMP00000226652;OTTHUMP00000226655;OTTHUMP00000226656;Rab GTPase-activating protein PRC17;TBC1 domain family member 3;TBC1 domain family, member 3;TBC1 domain family, member 3F;prostate cancer gene 17;prostate cancer gene 17 protein;protein TRE17-alpha protein-coding ENSG00000197681 19031 607741 VALIDATED 2291766 TBC1D30 TBC1 domain family, member 30 12 12 12 q14.3 64839404 64937879 + 63460856 63561079 + 65218352 65274802 + 6480464 12618308;19077034;14702039;10231032;8889548;20125193;17646400 23329 F5GY74;F5H0E8;F5H7L7;F8VZ81;Q9Y2I9 AB023201;AB449914;ABBA01026594;AC025262;AC078815;AK055404;AK299508;AL050074;AMYH01004550;BM678817;DC377016;NM_015279 BAA76828;BAG51513;BAG61461;BAH16657;NP_056094;Q9Y2I9 Hs.192492 1656637;1662528;1746357;1746473;1746867;1849138;2117315;2145649;2147334;2160730;2165114;2169189;2170509;2170993 A004Z30;A007A06;D12S1189E;D12S1211E;D12S1414;D12S1539;D12S1544;D12S2056;G64397;G64500;G64736;RH44361;RH44734;WI-15930 KIAA0984 OTTHUMP00000239545;OTTHUMP00000239546;TBC1 domain family member 30 protein-coding ENSG00000111490 29164 615077 VALIDATED 1607053 TBC1D29 TBC1 domain family, member 29 17 17 17 q11.2 25748106 25752033 + 25910710 25914637 + 28886584 28890511 + 12618308;12477932 26083 Q4V771;Q9UFV1 ABBA01015000;AC011840;AL117394;AMYH01008304;BC096718;BC098126;BC098273;CH471159;NM_015594 AAH96718;AAH98126;CAB55896;EAW51237;EAW51238;NP_056409;Q9UFV1 Hs.241421 DKFZp434O047 putative TBC1 domain family member 29 protein-coding ENSG00000266733 24509 13162 VALIDATED 1604393 TBC1D2B TBC1 domain family, member 2B 15 15 15 q24.3-q25.1 55223349 55306006 - 76074383 76156912 - 78287327 78369994 - 6480464 12477932;10470851;20379614;20562859;16751776;22354992;22990118;22505724 23102 B2RTQ2;C9JW56;H0YL97;Q9UPU7 AB028978;ABBA01060578;ABBA01060579;AC090260;AC104758;AI432924;AK000173;AK074871;AL080229;AL109773;AL137303;AMYH01006831;AW135485;BC015718;BC033712;BC140766;BC144482;BC152465;BE387538;CH471136;NM_015079;NM_144572 AAH33712;AAI40767;AAI44483;AAI52466;BAA83007;BAA90990;CAH10708;EAW99188;EAW99189;EAW99190;NP_055894;NP_653173;Q9UPU7 Hs.567426 1337988;1848286;2183941;5019617 A005A05;D15S973;G32209;WI-11944 FLJ20166;KIAA1055 OTTHUMP00000202618;OTTHUMP00000202619;TBC1 domain family member 2B protein-coding ENSG00000167202 29183 08310 VALIDATED 2292086 TBC1D27 TBC1 domain family, member 27 17 17 17 p11.2 17700808 17780599 - 16701945 16781778 - 16827310 16835818 - 14702039;12477932;19773279;20379614 96597 Q9H7M0 ABBA01009769;AC022596;AK024458;AL353996;AMYH01008153;BC128223;XM_003846282;XM_003846594;XM_003960671 BAB15748;XP_003846330;XP_003846642;XP_003960720 1729450;1730459;1783500;1783512;2160536;5015861;5022588;7185938 D10S16;D17S445;D17S844;D5S1597E;SHGC-145661;SHGC-149523;SHGC-64270 TBC1 domain family, member 27 protein-coding 28104 MODEL 1605746 TBC1D3D TBC1 domain family, member 3D 17 q12 33541108 33552266 - 16863688;16625196;12604796;12359748;11230166;8471161;8406013 727735 AC021317;AC183087;NM_001123390 NP_001116862;P0C7X1 Hs.105891 PRC17;TBC1D3;TBC1D3A;TBC1D3H protein-coding 28944 1604120 TBC1D3E TBC1 domain family, member 3E 17 q12 33411896 33423055 - 6480464 16863688 729877 P0C7X1 AC027821;AC126327;NM_001123392 A6NER0;NP_001116864 Hs.105891 protein-coding 27071 610811 1345789 TBC1D32 TBC1 domain family, member 32 6 6 6 q22.31 122145028 122400056 - 121442326 121697343 - 121400627 121655644 - 6480464 16344560;14702039;14574404;19913121;20628086;20125193;20159594;20379614;21906983 221322 A2A304;H0YBP0;Q96NH3 ABBA01025999;ABBA01026000;ABBA01026001;AK055461;AK091554;AK125385;AK126259;AK131446;AL035593;AL139098;AL365508;AL589910;AL590225;AMYH01016629;AMYH01016630;AMYH01016631;AMYH01016632;CH471051;DA109825;DA214223;DB216282;NM_152730 BAB70925;BAC03694;BAC86152;BAD18591;EAW48180;EAW48181;EAW48182;NP_689943;Q96NH3 Hs.121396 1681648;1699480;1719089;1721821;1751785;1753581;2119478;2170119;5116974 G59935;RH103333;RH123262;RH37572;RH66567;RH93248;SHGC-105796;SHGC-107465;ha3102 BROMI;C6orf171;FLJ30899;FLJ34235;bA301B7.2;bA57L9.1;dJ310J6.1 OTTHUMP00000017108;OTTHUMP00000017110;OTTHUMP00000227908;bA301B7.2 (novel protein);broad-minded homolog;dJ310J6.1 (novel protein);protein broad-minded APPROVED protein-coding ENSG00000146350 21485 12867 VALIDATED 2289741 TBC1D28 TBC1 domain family, member 28 17 17 17 p11.2 19433636 19450578 - 18479567 18488465 - 18538842 18547740 - 16344560;14702039;12477932 254272 I3L197;I3L433;I3L4T3;I3L502;Q2M2D7 ABBA01003920;AC026271;AC105100;AK097563;AK292544;AL137747;AMYH01008176;BC112012;BC112016;DB065322;NM_001039397 AAI12013;AAI12017;BAF85233;NP_001034486;Q2M2D7 Hs.434123;Hs.567880 1731148 D17S259 FLJ40244;MGC138217;MGC138221 OTTHUMP00000065077;TBC1 domain family member 28 protein-coding ENSG00000189375 26858 VALIDATED 1604122 TBC1D3H TBC1 domain family, member 3H 17 q12 31820049 31831182 - 16863688;16625196 729837 A6NE23;F5GWQ9;F8WDP5 AC126327;NM_001159332;XM_001134128;XM_001134131 A6NH17;NP_001152804;XP_001134128;XP_001134131 Hs.569742 5109553;5125042;5127094 D17S1360E;G19723;RH10527 protein-coding 30708 610811 1602782 TBC1D3I TBC1 domain family, member 3I 643947 AC139367;XM_001713609 A6NDS4;XP_001713661 protein-coding 32709 1606373 TBC1D3P1 TBC1 domain family, member 3 pseudogene 1 17 17 17 q23.1 54549000 54558143 - 55440166 55449741 - 58085483 58094627 - 400609 AC005702;NG_005461 1693440 G42383 pseudo 27445 6482154 TBC1D3P3 TBC1 domain family, member 3 pseudogene 3 17 p11.2 20446793 20454277 - 653017 AC015818;AMYH01008257;NG_032193 USP6P1 pseudo 32408 INFERRED 1605182 TBC1D3C TBC1 domain family, member 3C This gene represents one of at least 8 paralogs of TBC1D3 gene found on chromosome 17. These paralogs appear to be differentially expressed in human tissues. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. [provided by RefSeq, May 2011] 17 17 q12 31605198 31616140 - 34581085 34592032 - 16863688;12604796;12477932;8889549;12359748 414060 A6NG99;A8K8E3;K7ES81;Q6IPX1 AA045947;ABBA01011245;AC131056;AC233699;AK292308;AK301823;AMYH01008363;BC033670;BC071680;BI827136;BX280919;BX346181;NM_001001418 AAH71680;BAF84997;BAG63269;NP_001001418;Q6IPX1 Hs.454716;Hs.743999 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ78248;MGC44903;TBC1D3D OTTHUMP00000163612;OTTHUMP00000163613;Rab GTPase-activating protein PRC17;TBC1 domain family member 3C-like protein ENSP00000341742;TBC1 domain family member 3C/3D;telomeric TBC1 domain family member 3-like APPROVED protein-coding ENSG00000234972 24889 17559 610806 REVIEWED 1605183 TBC1D3B TBC1 domain family, member 3B This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009] 17 17 q12 31517174 31528101 - 34493061 34503988 - 6480464 16863688;16625196;14702039;12477932 414059 A6NDS4;E5RGJ9;K7EIT9;K7EPE3;Q8IZP1 AA760944;AC003976;AC139367;AF540953;AK292257;AMYH01008363;BI828386;BI832051;BM563571;NM_001001417 A6NDS4;AAI66651;AAN33117;BAF84946;NP_001001417 Hs.105891;Hs.454716;Hs.677656 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ78399;PRC17;TBC1D3I OTTHUMP00000163610;OTTHUMP00000163611;Rab GTPase-activating protein PRC17 duplicate;TBC1 domain family member 3B;TBC1 domain family member 3B/I;TBC1 domain family, member 3I;prostate cancer gene 17 duplicate APPROVED protein-coding ENSG00000224226 27011 11264 610144 REVIEWED 6481162 TBC1D4-AS1 TBC1D4 antisense RNA 1 100874209 AL139230 APPROVED miscrna 40874 1605745 TBC1D3G TBC1 domain family, member 3G 17 17 q12 31871287 31882216 - 34797174 34808103 - 6480464 16863688;12477932;8125298 654341 E5RGJ9;F5GYN8;K7EN21;K7EPE3;Q6DHY5;Q6IPX1 AC126327;AC233700;AK225985;AK292344;AMYH01008361;BC075809;DC397874;NM_001040282 AAH75809;BAF85033;NP_001035372;Q6DHY5 Hs.454716;Hs.617010 5109553;5125042;5127094 D17S1360E;G19723;RH10527 OTTHUMP00000163563;OTTHUMP00000163564;TBC1 domain family member 3G protein-coding ENSG00000161583 29860 610810 VALIDATED 1604135 TBC1D3P2 TBC1 domain family, member 3 pseudogene 2 17 17 17 q23.2 54549003 54559929 - 57650339 57654138 - 60342066 60353016 - 12477932;21832049 440452 ABBA01035357;ABBA01035358;ABBA01035359;AC053481;AK301746;AMYH01008543;BC058890;CH471109;EG327356;NR_027486 BAG63208;EAW94371;EAW94374 Hs.448884 5109553;5125042;5127094 D17S1360E;G19723;RH10527 pseudo ENSG00000188755 27783 PROVISIONAL 5552976 TBC1D3P5 TBC1 domain family, member 3 pseudogene 5 17 17 q11.1 22769075 22782776 + 25745031 25758649 + 12477932 440419 Q2M1I1 ABBA01015070;AC090615;AMYH01008275;BC037244;BC112354;NR_033892 AAI12355 Hs.385755 MGC133239 pseudo ENSG00000266433 43567 VALIDATED 1345800 TBC1D3F TBC1 domain family, member 3F 17 17 q12 33591517 33602396 - 36283960 36294915 + 1580863;6480464 19077034;16863688;16625196;16381901;15489336;14702039;12477932;12359748;11230166;11076863;8471161;8406013;12612085;20936779;23535730 84218 A6NER0;A6NFD7;E5RGJ9;F5GZ95 AB449884;AC021317;AC183087;AC233700;AK095385;AK122833;AMYH01008362;BC078140;NM_032258 A6NER0;AAH78140;AAI46681;BAG53037;BAG53751;BAH16627;CAL37674;CAL38609;NP_115634 Hs.454716 5109553;5125042;5127094 D17S1360E;G19723;RH10527 FLJ56187;FLJ58835;TBC1D3 OTTHUMP00000216311;OTTHUMP00000217154;TBC1 domain family member 3;TBC1 domain family member 3F;TBC1 domain family, member 3;TRE17 alpha protein;prostate cancer gene 17 protein;protein TRE17-alpha protein-coding ENSG00000185128 18257 09667 610809 VALIDATED 1603593 TBC1D31 TBC1 domain family, member 31 8 8 8 q24.13 120273958 120353417 + 124154101 124233571 + 124084920 124164393 + 6480464 15489334;14702039;12477932;20379614;21139048;21890473;21906983;22505724 93594 E5RFG6;E5RG45;E5RHC6;E5RI27;E5RI94;E7ERK7;E7ESI5;E7EWW7;F5GYF1;H0YCP2;H0YCY3;Q96DN5 ABBA01037865;ABBA01037866;AC100873;AK025686;AK056434;AK092041;AK094612;AMYH01019003;BC026969;BC027237;BC101724;BC105800;BC111954;BC143523;BC143525;CA429516;CH471060;NM_001145088;NM_145647;U43374 AAH26969;AAH27237;AAI01725;AAI05801;AAI11955;AAI43526;BAB71182;BAC04384;EAW92018;EAW92019;EAW92020;EAW92021;NP_001138560;NP_663622;Q96DN5 Hs.492716 1656172;1661560;1671562;1706870;1772651;2113334 D13S1728;G17232;G36153;RH47838;RH68014;SHGC-80920 Gm85;MGC104222;MGC126773;MGC138159;MGC21654 OTTHUMP00000228369;OTTHUMP00000228371;OTTHUMP00000228372;OTTHUMP00000228373;WD repeat-containing protein 67 APPROVED protein-coding ENSG00000156787 30888 11319 VALIDATED 1347118 TBC1D8 TBC1 domain family, member 8 (with GRAM domain) 2 2 2 q11.2 95827603 95971825 - 100990122 101134278 - 101623690 101767846 - 1580863;6480464 10373574;19077034;17686842;16344560;15851553;14702039;12023963;10737800;20548944;22779921;21906983 11138 J3KQ40;O95759 AB017114;AB449889;ABBA01073916;ABBA01073917;ABBA01073918;ABBA01073919;ABBA01073920;AC013722;AC016738;AK000748;AK098124;AK292826;AK300533;AL134328;AMYH01010812;AMYH01010813;BE842460;BQ673509;CA429937;CD722231;CH471127;DB079019;DB201187;DC383710;DC415735;DR001338;NM_001102426 AAI72297;AAY14824;BAA76517;BAF85515;BAH13300;BAH16632;EAX01823;EAX01824;EAX01825;NP_001095896;O95759 Hs.442657 1654688;1662273;1682499;1690882;1694594;1703190;1706032;1734880;1744347;1752149;1778031;1848335;2106699;2135394;2137169;2145067;2150963;2170665;5016596;5020883;5127449;5491814 A005M35;D2S1646E;D2S2662;D2S2760;G16341;G43290;GDB:451770;GDB:631802;HSC1GA012;RH12325;RH70503;RH98384;RP_L31_1;SGC30319;SGC32211;SHGC-106096;SHGC-2424;SHGC-78655;TBC1D8;TBC1D8__5222;WI-18129;WIAF-2217 AD3;HBLP1;TBC1D8A;VRP AD 3;BUB2-like protein 1;OTTHUMP00000202974;OTTHUMP00000225214;TBC1 domain family member 8;TBC1 domain family, member 8A;vascular Rab-GAP/TBC-containing protein protein-coding ENSG00000204634 17791 06752 VALIDATED 1345136 TBC1D4 TBC1 domain family, member 4 13 13 q22.2 74756810 74954251 - 75858809 76056250 - 1580863;2302393;2302395;2302397;2306494;6480464;6484113;7248544 17717074;17629673;18570632;18171431;19470471 20943949;19077034;18845784;18771725;18276765;17977950;17617058;17513702;17369524;17081983;17077344;16964243;16083285;15971998;15919790;15324660;15304337;15302935;15057823;12601173;12421765;11994271;11829485;9628581;21145461;17353931;20574165;19252894;19923418;20379614;20937822;20445134;16055720;21454505;20938636;21454690;22863883;22028408;12477932;21139048;21606541 9882 O60343;Q5JU47 AB011175;AB449885;ABBA01021641;ABBA01021642;ABBA01021643;AK300468;AK304091;AK307493;AL139230;AL162571;AMYH01005213;AY211910;BC151239;CH471093;CR749622;FM207106;FM207107;NM_014832 AAI46301;AAI51240;BAA25529;BAG62187;BAG64997;BAH16628;CAH18416;CAR62509;CAR62510;EAW80536;EAW80537;EAW80538;NP_055647;O60343 Hs.210891 1339312;1687892;1780280;1780304;1780306;1780322;1780326;2111706;2111708;2143233;5017761;7184096;7184098 D13S1618;D13S1619;D13S162;G67122;G67123;G67124;G67150;G67152;RH39895;RH68592;TBC1D4 AS160;DKFZp779C0666 Acrg embryonic lethality minimal region ortholog;OTTHUMP00000018505;TBC (Tre-2, BUB2, CDC16) domain-containing protein;TBC1 domain family member 4;akt substrate of 160 kDa protein-coding ENSG00000136111 19165 18164 612465 VALIDATED 5489184 TBCAP1 tubulin folding cofactor A pseudogene 1 X X p21 32969383 32969939 + 33059408 33060015 + 494540 ABBA01073228;AL451144;AMYH01022201;NG_004790;NG_012232 pseudo 42630 INFERRED 5489183 TBCAP2 tubulin folding cofactor A pseudogene 2 1 1 p36 14890912 14891579 - 15018424 15018891 - 494541 ABBA01004723;AL031732;AMYH01000265;NG_004791;NG_029844 pseudo 42631 INFERRED 1316981 TBC1D7 TBC1 domain family, member 7 TBC1D7 belongs to a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (Nakashima et al., 2007 [PubMed 17658474]).[supplied by OMIM, Jul 2010] 6 6 6 p24.1 14538134 14561738 - 13413162 13436593 - 13305183 13328787 - 737633;1580863;6480464 12477932 22354992;19077034;17658474;16344560;15489334;14702039;11042152;8125298;20095038;20098747;20562859;15342556;17207965;21832049;22795129;18029348;19953087;21890473;21906983;17646400 51256 B4DK47;Q5JPB9;Q5SZL3;Q5SZL4;Q5SZL5;Q5SZL6;Q5SZL8;Q5SZM1;Q5SZM2;Q9P0N9 AB449888;ABBA01022125;AF151073;AK057228;AK223445;AK296391;AL008729;AL589984;AL833474;AMYH01016092;AY542308;AY826820;BC007054;BC050465;BG504676;BI914228;BP319580;CF528834;CH471087;DA169008;DB079098;NM_001143964;NM_001143965;NM_001143966;NM_001258457;NM_016495 AAF36159;AAH07054;AAH50465;AAT08177;AAX18640;ADQ33066;BAB71389;BAD97165;BAG59059;BAH16631;CAI46116;EAW55323;EAW55324;EAW55325;EAW55326;EAW55327;NP_001137436;NP_001137437;NP_001137438;NP_001245386;NP_057579;Q9P0N9 Hs.484678 1649520;1675421;2141399;5022578 D1S1423;D6S2113;RH46703;RH92774 DKFZp686N2317;FLJ32666;PIG51;TBC7;dJ257A7.3 OTTHUMP00000016047;OTTHUMP00000016048;OTTHUMP00000043406;OTTHUMP00000043407;OTTHUMP00000043408;OTTHUMP00000043409;OTTHUMP00000043410;TBC1 domain family member 7;cell migration-inducing protein 23 APPROVED protein-coding ENSG00000145979 21066 18165 612655 VALIDATED 5489182 TBCAP3 tubulin folding cofactor A pseudogene 3 4 4 q23 100049455 100050086 + 99830533 99831054 + 101290501 AC093836;NG_033171 pseudo ENSG00000249055 42632 INFERRED 1604383 TBC1D9 TBC1 domain family, member 9 (with GRAM domain) 4 4 4 q31.21 138871921 139007760 - 141761386 141896921 - 141541936 141677471 - 6480464 19077034;18228020;16355344;15302935;15146197;12970790;12477932;10737800;10048485;9110174;8619474;22296392;20379614;21890473;22354992 23158 Q6ZT07 AB020689;AB449892;ABBA01069981;ABBA01069982;ABBA01069983;ABBA01069984;AC096733;AC108019;AF131785;AI439646;AK127020;AMYH01014572;BC038804;BC114935;BC128046;BC146758;BQ308276;CH471056;CN332501;CN332502;NM_015130 AAI46759;BAA74905;BAC86789;BAH16635;EAX05092;EAX05093;EAX05094;NP_055945;Q6ZT07 Hs.480819 1662918;1662920;1686692;1718193;1735424;1754935;1768187;2115323;2128385;2159111;2162365;2168319;2168321 A001Y05;D4S1246;D4S2601E;D4S2680;D4S3312;D4S3334;G19772;G41967;RH122866;RH92256;SHGC-141857;SHGC-50201;WI-20032 KIAA0882;MDR1 OTTHUMP00000220169;TBC1 domain family member 9;TBC1 domain family member 9A protein-coding ENSG00000109436 21710 11115 VALIDATED 1606538 TBC1D8B TBC1 domain family, member 8B (with GRAM domain) This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] X X X q22.3 106517303 106590765 + 105932575 106006036 + 106045919 106119380 + 6480464 19077034;14702039;12477932;8889548;8125298;21906983;23143602 54885 D6RC82;D6RFZ2;H0Y552;J3KN75;Q0IIM8 AB449890;AB449891;ABBA01035823;ABBA01035824;ABBA01035825;ABBA01035826;ABBA01035827;ABBA01035828;ABBA01035829;ABBA01035830;ABBA01035831;ABBA01035832;AK000305;AK091248;AK123957;AK225310;AL391315;AL591849;AMYH01022826;BC017978;BC122564;BQ014086;BX648230;CA941751;CB243872;CH471120;NG_021284;NM_017752;NM_198881;U96192 AAI22565;BAA91071;BAC03620;BAC85735;BAH16633;BAH16634;EAX02734;EAX02735;EAX02736;NP_060222;NP_942582;Q0IIM8 Hs.351798 1719129;2157456;5015607;5015615;5019072;5022615;5096478;5115198;5118342 D11S2442;D11S2467;D11S3014;D11S3076;D11S3206;DXS2506;G44369;RH123282;STS-H63357 FLJ20298;RP11-321G1.1 OTTHUMP00000023789;OTTHUMP00000217630;OTTHUMP00000217633;RP11-321G1.1;TBC1 domain family member 8B APPROVED protein-coding ENSG00000133138 24715 06529 REVIEWED 1604633 TBC1D9B TBC1 domain family, member 9B (with GRAM domain) 5 5 5 q35.3 174914219 174960020 - 179221677 179267464 - 179289071 179334856 - 6480464 19077034;16303743;14702039;12477932;9734811;8125298;21832049;22939629;21139048;22354992;23383273 23061 B3KM54;E5RIN2;F5H6M5;G3V133;H0YB08;H0YB58;Q66K14;Q9BW24 AB014576;AB449893;ABBA01010047;ABBA01010048;ABBA01010049;AC008393;AC010285;AK001196;AK001473;AK026096;AK074791;AK123874;AK223509;AK304757;AMYH01015960;BC000701;BC008919;BC031697;BC080659;BC110400;BC129994;BM459848;BU183640;BX641107;CH471165;NM_015043;NM_198868 AAH00701;AAH08919;AAH80659;AAI29995;ADZ15757;BAA31651;BAD97229;BAG50866;BAG50919;BAG52002;BAG53977;BAG65512;BAH16636;CAE46050;EAW53777;EAW53778;EAW53779;EAW53780;EAW53781;EAW53782;NP_055858;NP_942568;Q66K14 Hs.155829 1664105;1690286;1740397;1740421;1740489;1740503;1780752;1855809;2154988 D5S2217E;D5S2232E;D5S2285E;D5S2295E;RH94087;SGC34653;WI-20921;WIAF-2213;bac51950T FLJ41880;KIAA0676;MGC157757 OTTHUMP00000161517;OTTHUMP00000161518;TBC1 domain family member 9B protein-coding ENSG00000197226 29097 10015 VALIDATED 1321047 TBC1D5 TBC1 domain family, member 5 3 3 3 p24.3 17137647 17722084 - 17174903 17757403 - 17198654 17784240 - 1580863;6480464 16713569;19077034;16344560;16189514;15489334;15144186;14702039;12477932;9039502;8889548;19531583;20379614;20923837;22354992;21890473 9779 B9A6K1;C9J397;C9J3F6;C9JDR8;C9JED7;C9JIU4;C9JMP7;C9JNM0;C9JW04;C9JWX0;C9K0P2;F2Z3C3;F2Z3I5;Q92609 AB449886;ABBA01025120;ABBA01025121;ABBA01025122;ABBA01025123;ABBA01025124;AC090644;AC090960;AC104451;AC140076;AC144531;AK097990;AK309374;AK310539;AMYH01013004;AMYH01013005;AMYH01013006;AMYH01013007;BC013145;BM976960;CH471055;D86965;DA111826;NM_001134380;NM_001134381;NM_014744 AAH13145;ADZ15960;BAA13201;BAH16629;EAW64284;EAW64285;EAW64286;EAW64287;EAW64288;NP_001127852;NP_001127853;NP_055559;Q92609 Hs.475629 1678751;1680034;1680787;1720747;1720779;1746025;1749799;1752565;1765767;1767290;1770740;2133928;2134533;2134535;2134754;2158221;2168059;2178820;5015619;5015961;5037552 A005T32;A006M37;D11S3114;D15S1477;D8S2279;G20485;G59347;G59363;RH11669;RH125624;RH16587;RH25422;RH28491;RH36248;RH45539;RH80454;RH93319;SHGC-106476;SHGC-111540;SHGC-149202;WI-20516 KIAA0210 OTTHUMP00000208065;OTTHUMP00000208066;OTTHUMP00000208068;OTTHUMP00000208069;TBC1 domain family member 5 protein-coding ENSG00000131374 19166 10262 VALIDATED 1323048 TBCA tubulin folding cofactor A The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. [provided by RefSeq, Jul 2008] 5 5 5 q14.1 72881651 72966197 - 77022751 77107941 - 76986995 77072185 - 1298632;1580863;6480464 9653160 8706133;16130169;15963512;15489334;12477932;12054808;11042152;8567715;20201926;20379614;20950786;22939629;18029348;18781797;21139048;21890473;21906983;21044950;22053931;22505724 6902 B4DT30;E5RHG6;E5RIW3;E5RIX8;E5RJD8;E5RJM1;O75347;Q6FGD7 ABBA01061983;ABBA01061984;AC026717;AC035147;AF038952;AK300031;AK312207;AMYH01015428;BC018210;BC067837;BC105285;BT007354;CH471084;CR542170;CR542186;DB538817;DW436723;NM_004607 AAC39866;AAH18210;AAI05286;AAP36018;BAG35140;BAG61842;CAG46967;CAG46983;EAW95810;NP_004598;O75347 Hs.291212 1706066;1721063;1769003;1776090;2144491 G59514;RH16205;SHGC-34767;SHGC-80068;WI-17114 CFA;OTTHUMP00000128368;OTTHUMP00000222303;OTTHUMP00000222304;OTTHUMP00000222362;OTTHUMP00000222437;TCP1-chaperonin cofactor A;chaperonin cofactor A;tubulin-folding cofactor A;tubulin-specific chaperone A APPROVED protein-coding ENSG00000171530 11579 18166 610058 REVIEWED 1315555 TBCC tubulin folding cofactor C Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008] 6 6 6 p21.1 44264486 44266136 - 42820212 42821862 - 42712234 42713884 - 1580863;6480464 8706133;15489334;14574404;12477932;11847227;8567715;20384997;12417528;21832049;22028797 6903 Q15814 ABBA01050722;AK312681;AL353716;AMYH01016306;BC017479;BC020170;BE795945;BT007002;CH471081;NM_003192;U61234 AAB17539;AAH17479;AAH20170;AAP35648;ADZ16092;BAG35561;EAX04100;NP_003183;Q15814 Hs.75064 1670280;1858454;2139092;2139094 A001T48;G19644;RH69688;SGC31811 CFC OTTHUMP00000016406;tubulin-folding cofactor C;tubulin-specific chaperone C APPROVED protein-coding ENSG00000124659 11580 04276 602971 REVIEWED 1605661 TBCCD1 TBCC domain containing 1 3 3 3 q27.3 184700233 184724709 - 187746824 187767806 - 186263856 186288332 - 6480464 16344560;14702039;12477932;19913121;20628086;19322201 55171 C9J4M0;C9JUE9;G5E9J4;Q9NVR7 ABBA01058388;ABBA01058389;AC068631;AK001422;AK124362;AMYH01013734;BC025748;CA428099;CH471052;DB023715;DB033833;NM_001134415;NM_018138 AAH25748;ACT64550;ACT64551;BAA91682;BAG54031;EAW78191;EAW78192;EAW78193;NP_001127887;NP_060608;Q9NVR7 Hs.518469 1727247;5014051;5015619;5022200;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;G62878;L18426 FLJ10560 OTTHUMP00000210167;OTTHUMP00000210168;TBCC domain-containing protein 1 protein-coding ENSG00000113838 25546 07684 VALIDATED 1320593 TBCB tubulin folding cofactor B 19 19 q13.11-q13.12 41297728 41308689 + 36605888 36616849 + 1580863;6480464 16303566;16713569;19168853;19165527;19038251;18048340;15831477;15592455;15489334;15057824;12477932;9265649;8978780;8978778;19913121;20628086;22863883;22939629;18029348;21139048;21890473;21906983;19322201;22777741;22053931;22940919 1155 A8MVD5;K7EK42;K7EL99;K7ELT5;K7ENS2;K7EP07;K7EQH0;K7ER04;Q6FGY5;Q99426 ABBA01018779;AD001527;AF013488;AI126083;AL555345;AMYH01009738;BC005969;BC052812;BT007424;CR541971;D49738;NM_001281 AAB51182;AAB67716;AAH05969;AAH52812;AAP36092;ABM83826;ABM87149;BAA08572;CAG46769;NP_001272;Q99426 Hs.31053 2185406 WI-12306 CG22;CKAP1;CKAPI;MGC14625 OTTHUMP00000045827;OTTHUMP00000081860;cytoskeleton associated protein 1;cytoskeleton-associated protein 1;cytoskeleton-associated protein CKAPI;tubulin-folding cofactor B;tubulin-specific chaperone B protein-coding ENSG00000105254 1989 03196 601303 VALIDATED 1606678 TBCEL tubulin folding cofactor E-like 11 11 11 q23.3 118054255 118119808 + 120400040 120463333 + 120894803 120960356 + 6480464 18262179;15728251;14702039;12477932;20379614;21890473 219899 B2R8D2;B3KNB6;E9PJJ0;E9PNS0;E9PP54;G3V147;Q5QJ74 ABBA01031312;AI128257;AK024239;AK295673;AK313324;AMYH01004091;AP000646;AP001929;AY398644;BC020501;BC120988;BC120989;BX091943;CH471065;DB481993;DN602255;NM_001130047;NM_152715 AAI20989;AAI20990;AAR27875;BAG36129;BAG51278;BAG58531;EAW67513;EAW67514;EAW67515;NP_001123519;NP_689928;Q5QJ74 Hs.504136 1654866;5107935 D11S4648;SHGC-57160 El;FLJ14177;LRRC35;MGC10233 E-like;OTTHUMP00000231803;OTTHUMP00000231822;catastrophin;leucine rich repeat containing 35;leucine-rich repeat-containing protein 35;tubulin-specific chaperone cofactor E-like protein;tubulin-specific chaperone e-like protein-coding 28115 11302 610451 VALIDATED 1317676 TBCD tubulin folding cofactor D Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008] 17 17 q25.3 78303229 78494351 + 80709940 80901062 + 6480464 8706133;18171676;17704193;15489334;15231748;14702039;12912990;12477932;12107410;11110777;10831612;10722852;10231032;9265649;9110174;8619474;8567715;16169070;11847227;19724895;19851296;20198315;20740604;21832049;22863883;21044950;20360068;21139048;21890473;21906983;21987572;22505724 6904 C9J1U4;I3L0V3;I3L120;I3L131;I3L143;I3L163;I3L1L0;I3L1S3;I3L3H4;I3L439;I3L4D2;I3L500;J3KR97;Q9UG46 AA421669;AB023205;ABBA01019702;ABBA01019703;ABBA01019704;ABBA01019705;ABBA01019706;ABBA01019707;ABBA01019708;ABBA01019709;ABBA01019710;ABBA01019711;AC024361;AC068014;AC068584;AC087222;AC130371;AF052173;AF193042;AJ006417;AK057975;AK091959;AK129619;AK293471;AL096745;AL133562;AMYH01008743;AMYH01008744;AMYH01008745;BC003094;BC006364;BC012824;BC024167;BC039654;BC150142;BG254219;BI464569;CA390153;CH471099;NG_011721;NM_005993 AAG22470;AAH03094;AAH06364;AAH12824;AAH39654;ABM82811;ABW03451;BAA76832;BAC03777;BAC85197;BAG56964;CAA07022;CAB62532;CAB63716;EAW89821;EAW89822;EAW89823;NP_005984;Q9BTW9 Hs.464391 1670364;1677891;1678599;1693608;1694660;1726467;1734430;1747641;1757495;1758563;1763877;1763879;2155547;2174188 D17S1402E;G43509;G62613;G65508;HSC0WH042;RH10983;RH11658;RH92242;RH98714;SHGC-144868;SHGC-147546;SHGC-147547;SHGC-148757;SHGC-58522 KIAA0988;SSD-1;tfcD SSD-1;beta-tubulin cofactor D;tfcD;tubulin-folding cofactor D;tubulin-specific chaperone D APPROVED protein-coding ENSG00000141556 11581 05227 604649 REVIEWED 6481177 TBL1XR1-AS1 TBL1XR1 antisense RNA 1 100874217 AC023235 APPROVED miscrna 41243 1313614 TBCE tubulin folding cofactor E Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q42.3 233597351 233678903 + 235530728 235612280 + 1599303;1580863;6480464;7240710 12389028 8706133;19491227;19297412;19168853;18262179;17184771;17008776;16710414;16344560;15489334;14702039;12665801;12477932;12446740;12389029;9891010;9806825;9634513;9265649;8567715;19557161;20103624;20201926;20379614;18029348;11847227;21139048;21890473;22863883 6905 B7Z3P1;Q15813 ABBA01033127;ABBA01033128;ABBA01033129;ABBA01033130;ABBA01033131;ABBA01033132;ABBA01033133;ABBA01033134;ABBA01033135;ABBA01033136;ABBA01033137;AK093397;AK292287;AK296185;AK298050;AL357556;AL672237;AMYH01001844;AMYH01001845;AMYH01001846;BC008654;BT007086;CH471098;DA418943;DA981183;FO393422;NG_009230;NM_001079515;NM_003193;U61232 AAB17538;AAH08654;AAP35749;ADZ15423;BAF84976;BAH12277;BAH12714;EAW70021;EAW70022;EAW70023;EAW70024;EAW70025;NP_001072983;NP_003184;Q15813 Hs.744998 1648595;1664036;1724877;1764439;1768744;2163340 AL010041;RH119203;RH70688;SGC38288;SHGC-148032;SHGC-76555 HRD;KCS;KCS1;pac2 Kenny-Caffey syndrome;OTTHUMP00000037906;tubulin-folding cofactor E APPROVED protein-coding ENSG00000116957 11582 05381 241410;244460;604934 REVIEWED 2793698 TBL1YP1 transducin (beta)-like 1, Y-linked pseudogene 1 Y Y Y q11.223 7596091 7611738 + 21298428 21314274 + 22889141 22904787 + 12815422 286555 ABBA01057470;ABBA01057471;ABBA01057472;ABBA01057473;AC009494;NG_002819 2188719;2188725;5115644 G66562;G66565;TBL1Y-12 TBL1YP pseudo 23979 INFERRED 731934 TBKBP1 TBK1 binding protein 1 TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008] 17 17 17 q21.32 42225439 42242239 + 43127629 43144415 + 45772630 45789429 + 6480464;6907045 14743216;12477932;9872452;8889548;17568778;17213182;23286385;19820708;19481056;21903422;21906983;21743469;22190364;22797925 9755 A7MCY6;F5H1U4;J3KS71 AB018318;ABBA01041141;ABBA01041142;AC015674;AMYH01008450;AMYH01008451;BC111418;BC152407;BC167150;CB241552;CH471109;DT217050;NM_014726 A7MCY6;AAI11419;AAI52408;AAI67150;BAA34495;EAW94805;EAW94806;NP_055541 Hs.94790 2119476;2219588 ProSAPiP2__5594;WI-14964 KIAA0775;ProSAPiP2;SINTBAD TANK-binding kinase 1-binding protein 1;TBK1-binding protein 1;prosapip2 protein APPROVED protein-coding ENSG00000198933 30140 12239 608476 VALIDATED 1606987 TBCK TBC1 domain containing kinase 4 4 4 q24 104266483 104537097 - 107186686 107456834 - 106967233 107237861 - 6480464 12477932;12471243;19077034;16344560;15815621;15489334;14702039;9847074;22837378;20332099;21832049;22939629 93627 D6R950;D6RC61;D6RDG2;D6RDY5;H0Y8U7;H0Y959;H0YA45;Q5HYF5;Q9P080 AB449876;ABBA01063740;AC093680;AC107381;AC109361;AC114734;AC125469;AF161420;AI808636;AK074305;AK098157;AK315571;AMYH01014444;AP001820;BC009208;BC020853;BC068496;BX647851;CH471057;DA100605;DB223368;DB228807;NM_001163435;NM_001163436;NM_001163437;NM_033115 AAF28980;AAH09208;AAH20853;AAH68496;AAY40979;AAY41041;ABM84205;ABM87609;BAB85045;BAC05244;BAH16619;CAI46102;EAX06198;EAX06199;EAX06200;EAX06201;EAX06202;NP_001156907;NP_001156908;NP_001156909;NP_149106;Q8TEA7 Hs.292986 1649072;1650692;1653039;1653047;1659287;1700696;1705352;1752183;1775754;1779094;2136041;2149743;2151639;2174877 RH103971;SHGC-106067;SHGC-18815;SHGC-18917;SHGC-24739;SHGC-50491;SHGC-50939;SHGC-57456;SHGC-59799;SHGC-59821;SHGC-67790;SHGC-67977;SHGC-83528;WI-11631 HSPC302;MGC16169;TBCKL OTTHUMP00000161871;OTTHUMP00000161872;OTTHUMP00000161873;OTTHUMP00000219943;TBC domain-containing protein kinase-like protein protein-coding ENSG00000145348 28261 17514 VALIDATED 1346534 TBL1X transducin (beta)-like 1X-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008] X X p22.3 9393048 9647778 + 9431335 9687780 + 1580863;6480464;6907045 10330347;18193033;16258276;15601853;15489334;14980219;14527417;12628926;12477932;11931768;11389839;10944117;10809664;18374649;12502735;12150997;18247557;18326024;17210713;18202150;20211142;17620012;17242407;21240272;22939629;20181957;22294699;21081666;19322201;21044950;21189284 6907 C9J5F9;C9JCW3;C9JP56;C9JYQ8;O60907 AB209608;ABBA01070725;ABBA01070726;ABBA01070727;ABBA01070728;ABBA01070729;ABBA01070730;ABBA01070731;ABBA01070732;ABBA01070733;ABBA01070734;ABBA01070735;ABBA01070736;ABBA01070737;ABBA01070738;ABBA01070739;ABBA01070740;ABBA01070741;ABBA01070742;ABBA01070743;ABBA01070744;ABBA01070745;ABBA01070746;AC002549;AC003036;AC073488;AK289409;AK290962;AMYH01022067;AMYH01022068;BC020374;BC029394;BC032708;BC052304;CH471074;NM_001139466;NM_001139467;NM_001139468;NM_005647;Y12781 AAH32708;AAH52304;BAD92845;BAF82098;BAF83651;CAA73319;EAW98771;EAW98772;NP_001132938;NP_001132939;NP_001132940;NP_005638;O60907 Hs.495656 1339235;1342231;1703042;1703056;1733388;1772314;1846598;1857195;2108557;2124822;2143378;2159530;5015861;5491872;7185938 D10S16;DXS1137;DXS1313;DXS6702;DXS7103;DXS8051;DXS9793;G13299;G23087;L77747;RH18266;SHGC-30326;TBL1X;TBL1X_8667 EBI;SMAP55;TBL1 F-box-like/WD repeat-containing protein TBL1X;OTTHUMP00000022879;OTTHUMP00000022880;transducin beta-like protein 1X;transducin-beta-like protein 1, X-linked APPROVED protein-coding ENSG00000101849 11585 02183 300196 REVIEWED 1313752 TBK1 TANK-binding kinase 1 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010] 12 12 q14.1 63132204 63182158 + 64845840 64895899 + 5685014;6480464;6907045 21235323 16887178;12761501;12692549;19380831;19307177;19153231;19017982;18977754;18614628;18583960;18508731;18353649;18307994;17823124;17568778;17526488;17327220;17018283;16973572;16888014;16537515;16394098;16380379;16281057;16223731;16155125;16153868;15841462;15695821;15619605;15489334;15489227;15485837;15367631;14743216;14702039;14560022;14530355;12702806;12568715;12477932;12133833;11839743;10990461;10783893;10581243;9721103;8601309;7706279;17991829;18636086;16393995;17599067;22261722;22330071;22908223;15276183;15556946;19615732;19847166;19955181;19958770;20304918;20331378;16914100;16344560;19160540;21048031;20098747;20562859;20588308;21270402;16127453;21464307;22610919;20462248;23308279;21447600;21492457;21332394;21364999;23286385;23717208;21074459;21813773;21832049;19820708;22127978;23209807;23395611;16051665;21868362;21903422;21911421;21931631;21987572;19953087;21139048;21906983;21939555;22306015;22388039;15661910;19656901;20174559;21204785;21617041;21885437;22072751;22619329;22745133;22394562;20628368;21963094;21988832;22792062;22851696;22939624;23096996;19419966;22079989;23395801;20449947;22505724;22787218;22945920;23007157;23028469;22851595 29110 F5GZI4;F5H1A3;F5H206;Q9UHD2 AA970899;ABBA01026603;AC135279;AC136977;AF174536;AF191838;AK002192;AK291039;AK303683;AMYH01004547;AW275367;BC034950;CH471054;DA788357;NM_013254 AAF05989;AAF69106;AAH34950;BAA92129;BAF83728;BAG64676;EAW97133;NP_037386;Q9UHD2 Hs.505874 1653980;1659321;1796904;2121270;2187022 D5S2649;RH15751;RH77769;TBK1_1450;WI-20972 FLJ11330;NAK;T2K NF-kB-activating kinase;NF-kappa-B-activating kinase;OTTHUMP00000239491;serine/threonine-protein kinase TBK1 APPROVED protein-coding ENSG00000183735 11584 05322 604834 REVIEWED 1345065 TBL1Y transducin (beta)-like 1, Y-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Y Y Y p11.2 2256970 2437322 - 6838727 7019724 + 6778727 6959724 + 1580863;6480464;6907045 18511697;14702039;14660691;12815422;21189284;12477932;19605777;22280357 90665 Q9BQ87 ABBA01034843;ABBA01034844;ABBA01034845;ABBA01034846;ABBA01034847;ABBA01034848;ABBA01034849;ABBA01034850;ABBA01034851;ABBA01034852;ABBA01034853;ABBA01034854;ABBA01034855;ABBA01034856;ABBA01034857;ABBA01034858;ABBA01034859;ABBA01034860;ABBA01034861;ABBA01034862;ABBA01034863;AC011297;AC012068;AF332220;AF332221;AF332222;AK056903;AK298210;BC130471;BC130473;CH471163;NM_033284;NM_134258;NM_134259 AAI30472;AAI30474;AAK13472;AAK13473;AAK13474;ADR83034;BAG60480;EAW59126;EAW59127;EAW59128;NP_150600;NP_599020;NP_599021;Q9BQ87 Hs.664560 1655574;1748653;1777201;1791177;1791183;2140462;2188229;2188235;2188239;2188241;2188247;5021634;5021636;5022887;5022889;5037552;5115644;5115646;5115648;5115650;5115652;5115654;5115656;5115658;5115660;5115662;5115664 D11S2472;D8S2279;DYS266;G66288;G66291;G66293;G66294;G66297;L77856;SHGC-110324;TBL1Y-10;TBL1Y-12;TBL1Y-13;TBL1Y-14;TBL1Y-15;TBL1Y-16;TBL1Y-17;TBL1Y-2;TBL1Y-3;TBL1Y-4;TBL1Y-5;TBL1Y-6;TBL1Y-7;TBL1Y-8;TBL1Y-9;sY1238;sY1321 TBL1 F-box-like/WD repeat-containing protein TBL1Y;OTTHUMP00000033224;OTTHUMP00000033225;OTTHUMP00000033226;transducin beta-like 1;transducin beta-like protein 1Y;transducin-beta-like protein 1, Y-linked APPROVED protein-coding ENSG00000092377 18502 15962 400033 REVIEWED 1354068 TBL2 transducin (beta)-like 2 This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68461190 68470928 - 72621210 72630949 - 72983274 72993013 - 6480464 18029348;18996102;18596051;18193044;16140988;12975309;12477932;11230166;10575226;9860302;21145461;20570916;20571754;20679960;18193043;19615732;19656773;20864672;20972250;20562859;21182205;22939629;21139048;21890473;21906983;18781797;20686565;21909109;23505323;21963094;22505724;22797925;22952844;23251661 26608 C9JVF0;E9PF19;F2Z3G3;F8WB62;F8WBD9;F8WBP2;F8WCC7;F8WCR3;F8WDI9;F8WEC3;Q9Y4P3 ABBA01063951;AC005089;AF056183;AF097484;AF097485;AK000536;AK026529;AK074619;AK130791;AK302265;AK302277;AK314499;AL080162;AMYH01017534;AY358518;BC006308;BC012938;BC047354;BC114361;BQ025092;BX420755;CH471200;FB342985;FB711108;NG_023281;NM_012453 AAD28083;AAF06823;AAF06824;AAH12938;AAQ88882;ABM82422;ABM85613;BAC11093;BAG37099;BAG63612;BAG63621;CAB45751;CAR81493;CAS91509;EAW69671;NP_036585;Q9Y4P3 Hs.647044 1656186;1773969;2180319;5037552 D7S2092E;D7S2635;D7S2828;D8S2279 DKFZp434N024;MGC134739;WBSCR13;WS-betaTRP OTTHUMP00000160428;OTTHUMP00000211559;OTTHUMP00000211565;WS beta-transducin repeats protein;Williams-Beuren syndrome chromosome region 13;transducin beta-like protein 2;williams-Beuren syndrome chromosomal region 13 protein APPROVED protein-coding 11586 09319 605842 REVIEWED 1348910 TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq, Jul 2008] 3 3 q26.32 178221867 178397734 - 176738542 176915048 - 1580863;6480464;6907045 18767146;18193033;17316888;16893456;15601853;15489334;14980219;14702039;12628926;12477932;11931768;11063877;14527417;22496164;19032343;18029348;18326024;18374649;20379614;17620012;21642993;18202150;17242407;20547759;22863883;22939629;23022380;21081666;22079093;21139048;21532573;21890473;21906983;19322201;16469706;22190034;21258344;21963094;22837180;23000965;23291589 79718 C9IYU9;C9J3H2;C9J7E1;C9J903;C9JBN1;C9JCK0;C9JCW4;C9JEC9;C9JLJ1;C9JTW8;C9JY82;Q9BZK7 ABBA01058590;ABBA01058591;AC023235;AC078799;AF086399;AF267864;AF268193;AF314544;AK022956;AK025746;AK296946;AL598314;AMYH01013671;AMYH01013672;BC034712;BC048298;BC060320;BC092400;BC113421;BX648080;BX648935;CH471052;DB459301;NM_024665 AAG44733;AAG44736;AAH48298;AAH60320;AAI13422;AAK00301;ADR83374;BAB14331;BAH12461;EAW78437;EAW78438;EAW78439;NP_078941;Q9BZK7 Hs.715026 1644936;1682742;1689346;1717911;1718153;1727753;1771560;1773469;1773964;1778607;1778609;1784698;1847010;1849246;2111878;2128587;2133254;2139575;2170902;5022761;5093582 A009S15;D3S3097;D3S4035;D3S4234;G32804;G63142;RH11791;RH122782;RH122844;RH41472;RH47416;RH65477;RH65544;SGC34530;SHGC-12205;SHGC-149434;SHGC-2932;SHGC-77559;SHGC-77560;SHGC-77561;TBL1XR1 C21;DC42;FLJ12894;IRA1;TBLR1 F-box-like/WD repeat-containing protein TBL1XR1;OTTHUMP00000211531;OTTHUMP00000211535;TBL1-related protein 1;nuclear receptor co-repressor/HDAC3 complex subunit;nuclear receptor corepressor/HDAC3 complex subunit TBLR1;transducin beta-like 1X-related protein 1 APPROVED protein-coding 29529 15476 608628 REVIEWED 1342829 TBPL2 TATA box binding protein like 2 14 14 14 q22.3 35930314 35956646 - 54950681 54977016 - 55880928 55907263 - 6480464;6907045 17704303;17570761;14634207;12477932;17643375;20379614;18555775;19351825 387332 G3V454;Q6SJ96 ABBA01018207;AL356801;AMYH01005747;AMYH01005748;AY457923;BC117159;BC117185;CH471061;DQ448593;NM_199047 AAI17160;AAI17186;AAR24281;ABD93323;ADR83151;EAW80675;EAW80676;NP_950248;Q6SJ96 Hs.528278 1727235;1764553;1774533;1854968;2163894 G35708;G35982;G36200;G62872;SHGC-148141 TBP2;TRF3 OTTHUMP00000179014;TATA box-binding protein-like protein 2;TATA box-binding protein-related factor 3;TBP-like protein 2;TBP-related factor 3 protein-coding 19841 10607 608964 VALIDATED 1317100 TBX1 T-box 1 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 22 22 q11.21 18124226 18151116 + 19744226 19771116 + 1578373;1580863;6480464;7240710 15703190 9268629;11111039;14585638;19336370;19050236;17850965;17622328;17479646;17438107;17377518;17273972;16854283;16684884;16586352;15337468;12858556;12533514;11748311;11585671;20634891;19407855;19467348;19645056;19948535;20071775;20937753;21041608;20497193;20301696;20811636;22185286;22164283;21796729;22931165;23034814;22893440;22801995 6899 D9ZGG0;O43435;Q152R5 ABBA01005404;ABBA01005405;ABBA01005406;AC000091;AF012130;AF012131;AF373867;AMYH01012480;AMYH01012481;AMYH01012482;CH471176;DQ650705;FJ515849;HM015598;NG_009229;NM_005992;NM_080646;NM_080647 AAB94018;AAB94019;AAK58955;ABG25916;ACS13740;ACS13741;ACS13742;ACX32330;ADL14519;EAX03024;EAX03025;EAX03026;NP_005983;NP_542377;NP_542378;O43435 Hs.173984 CAFS;CTHM;DGCR;DGS;DORV;TBX1C;TGA;VCFS OTTHUMP00000197322;OTTHUMP00000197323;OTTHUMP00000197324;T-box 1 transcription factor C;T-box protein 1;T-box transcription factor TBX1;Testis-specific T-box protein;brachyury;t-box transcription factor TBX1 1;t-box transcription factor TBX1 2 APPROVED protein-coding ENSG00000184058 11592 09069 187500;188400;192430;217095;602054 REVIEWED 1313000 TBL3 transducin (beta)-like 3 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 2234243 2240930 + 1962065 1968752 + 2022064 2028751 + 1580863;6480464;6907045 21252943;8307582;16189514;15635413;14702039;12477932;12429849;11790298;16169070;18247557;17255935;19615732;19724895;20198315;19454010;18029348;22178446;21139048;21890473;21906983;22586326 10607 H3BN88;J3KNP2;Q12788 AB209173;ABBA01030284;AC005363;AC005606;AK095076;AMYH01007046;BC002361;BC007620;BC010231;BC014007;BC021563;BC035409;CH471112;NM_006453;U02609 AAA18945;AAH07620;AAH10231;AAH14007;AAH35409;BAD92410;EAW85585;EAW85586;EAW85587;EAW85588;EAW85589;NP_006444;Q12788 Hs.513267 1657493 SHGC-60750 SAZD;UTP13 OTTHUMP00000158898;WD repeat-containing protein SAZD;WD-repeat protein SAZD;transducin beta-like protein 3 APPROVED protein-coding ENSG00000183751 11587 09327 605915 REVIEWED 68980 TBP TATA box binding protein Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 32-39, and expansion of the number of repeats increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010] 6 6 q27 170705396 170723872 + 170863421 170881958 + 1580863;5684015;5684339;5684350;5684014;6480464;5684338;5684349;5684348;5684344;6907045;7240710 11448935;12531510;14693397;21705419;15193429;15850778;15381080;16054804 8621548;20451497;9603936;9584164;9488487;9482861;9388200;9372921;9292011;9267036;9153318;9121429;9054383;9045704;8835540;8794892;8764062;8764009;8757291;8754792;8700832;8680883;8643494;8633057;8628302;8626665;8577725;8552083;8524284;8434021;8413269;8230415;8224850;8207805;8202368;8121496;8006019;7959796;7959752;7958900;7935440;7933101;7923369;7848298;7835343;7801123;7775442;7706261;7685215;7680771;7667283;7624363;7608968;2374612;2363050;2194289;1870994;1465435;12775419;12089333;9858607;9660973;10567391;9242374;9111364;12107178;8670810;9159119;7926747;9089417;9238003;8663456;9305922;8650542;9710597;8755740;9271120;7590250;11250903;9171375;10593900;11509574;11278496;8065335;9295363;11959914;16169070;15226435;15893730;15710329;11160734;12379483;15641800;14985389;14978680;14963322;14763955;14756671;14755733;14612417;14585974;14580349;14574404;12972251;12941701;12917344;12853230;12805114;12791683;12767124;12697807;12665565;12621023;12538582;12535529;12477932;12392551;12217962;12040021;11968006;11960008;11959865;11944977;11939898;11893333;11809839;11696545;11595744;11564863;11564744;11461703;11438666;11313753;11149922;11118327;11113176;11094070;11080476;11029584;10921893;10816571;10648625;10619841;10567404;10484774;10454579;10410676;10409662;10391676;10373544;10359315;10215616;10197586;10196196;10066804;9880542;9874563;9843967;9814863;9812988;9765201;9748258;9722567;9710587;9677423;9649342;9632719;18391197;18218637;17934876;17877750;17846415;17681538;17499043;17474109;17149738;17074809;17033685;16858508;16847693;16713569;16687213;16532453;16522640;16469772;16389595;16271277;16055710;15848047;15723054;15719058;15574413;15545613;15521976;15509807;15503103;15365789;15328344;15280358;7729427;11005381;12676957;9405375;7724559;8946909;1939271;2449431;19380697;19285969;19259763;19235102;18950845;18931662;18765812;18710943;18651325;18553934;18418687;15207618;15225551;18838386;17318177;17375202;17967894;20864379;9259327;10441524;10449590;10839990;12753906;15315821;16540471;17643375;19199812;19566714;19581089;19615732;19635797;19805548;20004653;20083121;7667268;7799929;8423815;8889548;9027316;19235719;19240132;12453419;17011493;17111193;20301611;20831744;17268553;11313951;11593411;15333839;15870300;15932940;21106530;15099517;15197246;17994014;15899866;22939629;21450820;21554323;23424617;23699518;7744009;9400991;9792714;22889412;21334959;8255752;9050847;7671313;8858156;15870280;21729782;23000965;9674425;19861239;21139048;21890473;21906983;21963094;2247058;7597030;8995708;9311784;9603525;11080158;17853080;19322201;21884934;21980299;20301387;20301402;22323595;17203973;9002523;9054408;10454562;23062343;10591645;16337145;21489275;17884155;23332750 6908 H0Y6D8;P20226;Q32MN7;Q7Z6S4;Q7Z6S5 ABBA01030857;AK298272;AK304648;AK315222;AL031259;AMYH01016888;BC109053;BC109054;BC110341;BM720195;BT019657;CA422572;CH471051;CR456776;EU796944;FJ770048;L37705;M34960;M55654;NG_008165;NM_001172085;NM_003194;X54993;Z22828 AAA36731;AAC03409;AAI09054;AAI09055;AAI10342;AAV38463;ACE86620;ACE87301;ACE87771;ACJ04979;ACN86311;ACT64436;BAG60533;BAG65425;CAA38736;CAG33057;EAW47418;EAW47419;NP_001165556;NP_003185;P20226 Hs.590872 1741281;1743107;1745945;1788658;1849428;1853905;5094808 AGC001b;G64292;GDB:180309;GDB:262118;RH18157;STS-M55654;WI-18913 GTF2D;GTF2D1;HDL4;MGC117320;MGC126054;MGC126055;SCA17;TFIID OTTHUMP00000017703;TATA sequence-binding protein;TATA-box binding protein N-terminal domain;TATA-box factor;TATA-box-binding protein;transcription initiation factor TFIID TBP subunit APPROVED protein-coding ENSG00000112592 11588 02511 168600;600075;607136 REVIEWED 1315592 TBPL1 TBP-like 1 This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011] 6 6 q22.1-q22.3 134315994 134350322 + 134273308 134308638 + 6480464;6907045 10220372;19369647;15767669;15673318;15489334;15269281;14574404;12477932;11861477;10570139;10082669;9889269;17353931;16169070;22511763;17643375;18482256;19858204;21832049;20811636;21139048;19322201 9519 P62380;Q7Z6T9;Q7Z6U0;Q7Z6U1;Q7Z6U2 AB020881;ABBA01025866;AF130312;AF136570;AI187713;AK292320;AK313645;AL035699;AMYH01016684;BC000381;BC017559;BI560657;BI828497;CH471051;NG_031808;NM_001253676;NM_004865;R42082 AAD24800;AAD28785;AAH00381;AAH17559;ABZ92461;BAA75218;BAF85009;BAG36402;EAW47995;EAW47996;EAW47997;EAW47998;NP_001240605;NP_004856;P62380 Hs.486507 2219740 TBPL1_3512 MGC:8389;MGC:9620;STUD;TLF;TLP;TRF2 21 kDa TBP-like protein;21-kDA TBP-like protein;OTTHUMP00000017240;OTTHUMP00000017241;OTTHUMP00000017242;TATA box binding protein-related factor 2;TATA box-binding protein-like protein 1;TATA box-binding protein-related factor 2;TBP-like factor;TBP-like protein 1;TBP-related factor 2;TBP-related protein;second TBP of unique DNA protein APPROVED protein-coding ENSG00000028839 11589 09272 605521 REVIEWED 1312969 TBRG1 transforming growth factor beta regulator 1 11 11 11 q24.2 121652919 121665998 + 123997981 124009440 + 124492742 124505822 + 737633;6480464 12477932 17110379;18582208;16582619;16344560;16303743;15489334;14702039;8125298;7654366;20506279;16751776 84897 E9PFP5;E9PI10;E9PK87;F8W6N5;Q3YBR2 ABBA01031255;AK027527;AK027766;AK057749;AK074140;AK074594;AK222936;AL713631;AL831881;AMYH01004103;AP001524;AY696294;BC018452;BC032312;BC041043;BC064392;BC073160;BC107428;BC109269;CH471065;DA292015;DQ144542;NM_032811;NR_016021 AAH18452;AAH32312;AAH41043;AAH73160;AAI09270;AAU10523;AAZ76016;BAB55177;BAB71559;BAB84966;BAD96656;CAD28450;CAH10595;EAW67589;EAW67590;NP_116200;Q3YBR2 Hs.436410 1650280;1682229;1698744;1740805;1775857;1798242;1848665;2109201;2121355;2127823;2131270;2179767;5015881;5022578;5022651 CSE-_C_9780;D11S2921;D11S4436;D1S1423;GDB:335751;RH102935;RH28305;SHGC-36823;SHGC-63523;STS-N22394;STS-N30903;STS-N35713;STS-N66850;STS-T95820;TBRG1_2593 FLJ14621;FLJ25020;FLJ90113;MGC129890;NIAM;TB-5 OTTHUMP00000202914;nuclear interactor of ARF and MDM2;transforming growth factor beta regulator 1 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H protein-coding 29551 15477 610614 VALIDATED 1343708 TBR1 T-box, brain, 1 This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. A similar protein has been disrupted in mice and shown to be critical for early cortical development, and causes loss of projection neurons in the olfactory bulbs and olfactory cortex. The C-terminal region this similar protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Jul 2008] 2 2 2 q24 155884680 155893641 + 161980866 161989819 + 162272620 162281573 + 1580863;6480464 7619531;15815621;15489334;12477932;11719470;10749215;15066269;21628590;21987572 10716 B0AZS4;H7C0B1;Q16650 ABBA01004886;ABBA01004887;AC009487;AK226050;AK297438;AK299533;AK312567;AK315865;AK316161;AMYH01011213;BC029289;BC104844;BC113418;BI820633;CH471058;NM_006593;U49250 AAA92010;AAH29289;AAI04845;AAI13419;AAY15017;ADR83340;BAF98756;BAG35462;BAH12582;BAH13061;BAH14532;EAX11368;EAX11369;NP_006584;Q16650 Hs.210862 1645242;5115666 1704;TBR1 MGC141978;TBR-1;TES-56 OTTHUMP00000204562;OTTHUMP00000204563;OTTHUMP00000204564;T-box brain protein 1;T-brain-1;TBR-1 APPROVED protein-coding 11590 07055 604616 REVIEWED 1342498 TBX10 T-box 10 This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010] 11 11 11 q13.2 64733226 64741484 - 67155350 67163607 - 67398774 67407031 - 1580863;6480464 12915323;9545502;16327884;16247549;12477932;20544801;15703190;16285859;20572854;20634891;20672350 347853 O75333 ABBA01024026;AMYH01003748;AP003385;AY229977;BC113485;BC113487;CH471076;NM_005995 AAI13486;AAI13488;AAO73483;ADR82958;EAW74662;NP_005986;O75333 Hs.454480 1798244 TBX10_2578 TBX13;TBX7 OTTHUMP00000235632;T-box 7;T-box protein 10;T-box transcription factor TBX10;T-box-containing transcriptional activator APPROVED protein-coding ENSG00000167800 11593 06872 604648 REVIEWED 1317666 TBX15 T-box 15 This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009] 1 1 1 p11.1 117656516 117763011 - 119227189 119333702 - 119425666 119532179 - 1580863;6480464;7240710 19068278;16710414;14702039;12477932;9693034;20634891;20379614;20935629;20962579 6913 Q5JT55;Q8N8P2;Q96SF7 ABBA01068510;AK096396;AK127536;AL139420;AL357045;AMYH01000975;BC122553;BX537778;CA412451;CA436813;CH471122;NG_013361;NM_152380 AAI22554;BAC04776;BAG54518;CAD97837;EAW56691;NP_689593;Q96SF7 Hs.146196 1666994;1691916;1692314;1692786;1709396;1723217;1727205;1755737;2160171;2191247;2218082 AL033622;AL033752;AL033812;G62857;MARC_16759-16760:1020873220:1;RH122292;SHGC-142585;SHGC-53876;SHGC-75396;SHGC-81722;TBX15_3309 TBX14 OTTHUMP00000014159;OTTHUMP00000014269;T-box 14;T-box protein 14;T-box protein 15;T-box transcription factor TBX14;T-box transcription factor TBX15 APPROVED protein-coding ENSG00000092607 11594 16035 260660;604127 REVIEWED 1350500 TBX18 T-box 18 This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012] 6 6 6 q14-q15 85871383 85901128 - 85500876 85530618 - 85444157 85473899 - 1580863;6480464 14574404;9888994;17584735;16688725;19213963;12477932;23242162;21205823 9096 O95935 ABBA01040468;AJ010278;AK310179;AL035694;AMYH01016478;BC040697;BC132715;BC157841;CH471051;NM_001080508 AAH40697;AAI32716;AAI57842;ADR83216;CAB37937;EAW48639;NP_001073977;O95935 Hs.251830 1335595;1657588;1674759;1699062 D6S1475;D6S1627;RH103106;RH47634 OTTHUMP00000016807;T-box protein 18;T-box transcription factor TBX18 protein-coding ENSG00000112837 11595 604613 REVIEWED 1349477 TBX23 T-box 23 57160 11601 1319719 TBX20 T-box 20 This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 7 7 p14.3 35208567 35259767 - 35242042 35293711 - 1580863;6480464;7240710 21586270;19414016;18834961;18275040;17668378;15489334;14550786;12853948;12690205;12477932;22465533;10936053;9847074;20200978;19762328;20211142;21076409;21963094 57057 Q9UMR3 AACC02000036;ABBA01056887;AC005826;AC006379;AC009531;AJ237589;AMYH01017178;BC120945;BC120946;CH236951;CH471073;DQ986374;HM015599;NG_015805;NM_001077653;NM_001166220 AAD21787;AAI20946;AAI20947;ABJ15760;ADL14520;CAB51916;EAL23971;EAW94048;NP_001071121;NP_001159692;Q9UMR3 Hs.404167 1339246;1775042;1790399;2156250;5017556;7187986 D7S3242;D7S484;G16027;GDB:3750008;TBX20 ASD4 OTTHUMP00000125259;T-box protein 20;T-box transcription factor TBX20 APPROVED protein-coding ENSG00000164532 11598 06931 606061;611363 REVIEWED 1320236 TBRG4 transforming growth factor beta regulator 4 7 7 7 p13 45238535 45250160 - 45106224 45117842 - 45139699 45151346 - 6480464 17353931;9383053;11256614;16964243;15489334;14702039;12759187;12690205;12477932;10231032;8125298;16169070;20877624;20379614;21139048;21890473;21906983;16344560;22190034 9238 B3KM73;B3KRS4;B4DU42;C9IZN7;C9J347;C9J5A2;C9J618;C9J7P5;H7C4R5;Q9BUC6 AACC02000110;AB023165;ABBA01058248;AC013416;AF011792;AK001281;AK022575;AK092132;AK222943;AK298155;AK300489;AL833840;AMYH01017221;BC002732;BC014918;BC017235;BG703429;BM150942;CH236960;CH471128;DA980367;NM_001261834;NM_004749;NM_030900;NM_199122 AAB69312;AAH02732;AAH14918;AAH17235;ABM85092;BAA76792;BAD96663;BAG50885;BAG51095;BAG52486;BAG62204;BAH12734;CAD38700;EAL23744;EAL23745;EAW61051;EAW61052;EAW61053;EAW61054;EAW61055;EAW61056;NP_001248763;NP_004740;NP_112162;NP_954573;Q969Z0 Hs.231411;Hs.741611 1712226;1770205;5014063;5016781 D15S1390;G54021;RH66403;SHGC-67307 CPR2;FASTKD4;KIAA0948 FAST kinase domain-containing protein 4;FAST kinase domains 4;H_TD2522F11.8;OTTHUMP00000159555;OTTHUMP00000159556;OTTHUMP00000159557;OTTHUMP00000214261;OTTHUMP00000214262;cell cycle progression 2 protein;cell cycle progression protein 2;cell cycle progression restoration protein 2;protein TBRG4 protein-coding ENSG00000136270 17443 10263 611325 VALIDATED 1320875 TBX19 T-box 19 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008] 1 1 q24.2 166516902 166550288 + 168250278 168283664 + 1599334;1580863;6480464;7240710 11290323 9888994;22170728;18029348;19064610;17652218;16899054;16710414;16390921;15666849;15613420;15489334;15476446;14702039;12970370;12651892;12651888;12477932;11916612;19536175;21622576;22193973 9095 B3KRD9;H0Y4B1;H0Y5A7;O60806 ABBA01047231;AJ010277;AK091862;AK129813;AL009051;AMYH01001486;BC093664;BC093666;CH471067;NG_008244;NM_005149 AAH93664;AAH93666;ABZ92200;CAB37936;EAW90824;NP_005140;O60806 Hs.716656 1340930;2116103 D1S2658;G35325 FLJ26302;FLJ34085;FLJ34543;TBS19;TPIT;dJ747L4.1 OTTHUMP00000032583;OTTHUMP00000038458;T-box factor, pituitary;T-box protein 19;T-box transcription factor TBX19;TBS 19 APPROVED protein-coding ENSG00000143178 11596 05214 201400;604614 REVIEWED 1322243 TBX2 T-box 2 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008] 17 17 q23.2 56832039 56841609 + 59477257 59486827 + 1578402;1580863;6480464 15781639 19469638;11111039;10468588;11748239;19453261;19266077;19216023;18829543;18640248;18391951;18025091;17407139;16730707;15489334;14702039;14595187;12873224;12477932;12023302;12000749;9710594;9434949;8889548;8597636;8530034;20502058;20546612;20383145;20383146;18029348;19633291;19893584;19960541;20534814;20635360;20348948;20211142;21271665;22002537;15042700;20881960;23020925;23388722;22284968;22844464 6909 F8WCM9;Q13207 AB209378;ABBA01035384;ABBA01035385;AC005746;AK001031;AL832900;AMYH01008532;AMYH01008533;AW006595;BC052566;BC070054;BM985069;CH471179;NM_005994;S81264;U28049 AAA73861;AAB36216;AAH52566;BAD92615;CAH10619;EAW51424;EAW51425;EAW51426;NP_005985;Q13207 Hs.531085 1794390;1798248;2161856 PMC311067P4;STS-W87459;TBX2_2169 FLJ10169 OTTHUMP00000211241;T-box protein 2;T-box transcription factor TBX2 APPROVED protein-coding ENSG00000121068 11597 02850 600747 VALIDATED 1317938 TBX21 T-box 21 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008] 17 17 q21.32 43165609 43178484 + 45810610 45823485 + 1580863;6480464;6484113;7240710 10761931;19535634;19473434;19362685;19362357;19348920;19307156;19298946;19287198;19269192;19258923;19234223;19168793;18840707;18753235;18504423;18504404;18414429;18212358;17949803;17705132;17703412;17667540;17541280;17378728;17325860;17237380;17117487;17082665;17075044;16750991;16498264;16487356;16434488;16273099;16210653;16179640;15927679;15860546;15806396;15712176;15684083;15632006;15604153;15489334;15248849;15241679;15131585;12960249;12938094;12477932;12128215;11087660;8125298;15737643;22490682;17993020;21272048;21114556;20193034;23479229;21289214;17445472;17445473;20713880;20855629;20634891;20974984;19615257;17074191;18619618;19176008;19336263;19639723;19691533;19692128;19757302;19805038;19818655;19879772;19915058;19923468;19950257;20056084;20175803;20237292;20429676;20503287;20211142;20977921;20675595;16874959;21055151;20333526;23095752;22391183;21289310;21642544;21239533;21177324;21468546;19861286;23455505;22258560;22303482;22521571;22261438;22014209;22133489;22416188;22190364;21780995;21988832;22513824;23440501;18300036;22336257 30009 Q53EK5;Q9UL17 ABBA01041142;AC015674;AF093098;AF241243;AK223634;AMYH01008451;BC039739;CH471109;GN337430;GN337449;NG_012166;NM_013351 AAF00055;AAF61243;AAH39739;BAD97354;CAY39299;CAY39301;EAW94804;NP_037483;Q9UL17 Hs.272409 1334934;1794886;1798246 D17S806;PMC64996P1;TBX21_2087 T-PET;T-bet;TBET;TBLYM T-box expressed in T cells;T-box protein 21;T-box transcription factor TBX21;T-cell-specific T-box transcription factor T-bet;transcription factor TBLYM APPROVED protein-coding ENSG00000073861 11599 05355 208550;604895 REVIEWED 1352487 TBXA1R thromboxane A1 receptor 6914 11607 6770504 TBX5-AS1 TBX5 antisense RNA 1 12 q24.21 114846000 114850637 + 14702039;8889548 255480 ABBA01019973;AC069240;AK091766;AMYH01004767;BM970213;CB992854;NG_007373;NR_038440;U47671 AAD11471 Hs.567915 1666358;1699282;1700654 RH103223;RH103950;SGC44506 APPROVED miscrna 27402 VALIDATED 1343120 TBX22 T-box 22 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q21.1 79156911 79173924 + 79270255 79287268 + 724722;1580863;6480464;7240710 12374769 11559848;11024289;19648124;18029348;17868388;17846996;16247549;15772651;15489334;14729838;14702039;12477932;11733204;20572854;20672350;21248356;21832049;22939624 50945 B3KUL8;Q9Y458 ABBA01049078;AF251684;AK097514;AL031000;AMYH01022639;AY035371;BC014194;CH471104;DB456367;FJ228480;FJ228481;NG_008998;NM_001109878;NM_001109879;NM_016954 AAG23749;AAH14194;AAK63189;ACP42194;ADZ15389;BAG53480;EAW98588;EAW98589;NP_001103348;NP_001103349;NP_058650;Q9Y458 Hs.374253 1796906;2114622;2121343 D12S396;L47783;TBX22_728 ABERS;CLPA;CPX;TBXX;dJ795G23.1 OTTHUMP00000023602;OTTHUMP00000023603;OTTHUMP00000023604;T-box protein 22;T-box transcription factor TBX22 APPROVED protein-coding ENSG00000122145 11600 02253 300307;302905;303400 REVIEWED 1319185 TBX4 T-box 4 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008] 17 17 17 q21-q22 58634841 58662701 + 56888589 56916446 + 59533807 59561664 + 1601422;1580863;6480464;7240710 15106123 19453261;10945475;18391951;15231748;10199965;8878690;20546612;20634891;12477932;19893584;20887794;21271665;22678995 9496 A5PKU7;K7EPY2;P57082 ABBA01035383;AC005901;AF188703;AK310312;AMYH01008533;BC136403;BC142620;BC144062;CH471179;NG_008080;NM_018488 AAF68854;AAI36404;AAI42621;AAI44063;EAW51428;NP_060958;P57082 Hs.143907 5094922 TKY3518 SPS T-box protein 4;T-box transcription factor TBX4 APPROVED protein-coding ENSG00000121075 11603 03424 147891;601719 REVIEWED 1345948 TBX3 T-box 3 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] 12 12 q24.1 113592442 113606352 - 115108059 115121969 - 1601419;1580863;2300329;5132891;6480464;7240710 10330342;17031801;19341743 22532574;9207801;11689487;12032820;11748239;12116211;10468588;18029348;19453261;19430479;18829543;18726671;18245468;17273972;17234970;17081983;16955224;16556916;16530712;16049973;15489334;15289316;14702039;12668170;12477932;12005433;8988164;12000749;21572416;19913121;20628086;19218121;19403417;20062060;20133910;20414254;21160077;20936779;21076409;21045733;20942798;21098263;20702496;21784138;22865636;23116943;21199695;21538160;20467438;23082988;23266556;23388722;19322201;21909110;22154512;22284968;23190890;23667531 6926 O15119 ABBA01019977;AC010177;AC026765;AF002228;AF074999;AF140240;AF170708;AF216750;AK054604;AK075457;AK304639;AMYH01004769;AY034105;BC025258;CH471054;NG_008315;NM_005996;NM_016569 AAC12947;AAD50989;AAF61207;AAF61816;AAH25258;ABM83784;ABM87105;BAG65418;EAW98069;EAW98070;EAW98071;EAW98072;EAW98073;EAW98074;NP_005987;NP_057653;O15119 Hs.744016 1672420;1698586;1798250;2135737;2170619 D12S2090;RH102845;RH69906;STS-T94297;TBX3_2272 TBX3-ISO;UMS;XHL OTTHUMP00000241621;OTTHUMP00000241622;T-box protein 3;T-box transcription factor TBX3;bladder cancer related protein XHL APPROVED protein-coding ENSG00000135111 11602 03373 181450;601621 REVIEWED 1601822 TCAM1P testicular cell adhesion molecule 1, pseudogene This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene in mouse encodes a testis-specific cell adhesion protein that may play a role in germ cell-Sertoli cell interactions. [provided by RefSeq, Apr 2012] 17 17 17 q23.3 56322493 56329856 + 59288108 59295471 + 61934376 61941739 + 6480464 11195349;9889334;2744760;19766163;20210993 146771 AB026156;ABBA01035317;AC015651;AMYH01008549;NR_002947 Hs.629177 1645175 RH71448 TCAM1 APPROVED pseudo ENSG00000240280 30707 612756 VALIDATED 1313887 TBX5 T-box 5 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 12 12 q24.1 113276118 113330630 - 114791735 114846247 - 1578431;6480464;7240710 8988165 20450920;16183809;8988164;15138308;12237100;14519429;19430479;19336370;19187613;18828908;18726671;18701034;18451335;18378906;17584735;17534187;17273972;16917909;15653675;15489334;15221798;15087119;12858531;12668595;12477932;11748310;11183182;10974675;10842287;10199965;10077612;8054982;12845333;11431700;12499378;16332960;11161571;22532574;22837378;19913121;20628086;20677014;21045733;19586889;19648116;20062060;20062063;20379614;20414254;20519243;20802524;21076409;20301290;15591049;22543974;23245941;20975709;16344560;21909110;22192413;22589738;22011241;21752519;22414880;22901678;23139255;23251661;22333898 6910 Q99593 AB051068;ABBA01019971;ABBA01019972;ABBA01019973;AC009260;AC069240;AF086146;AF221714;AK290611;AK300251;AMYH01004767;BC011028;BC027942;CB960757;CH471054;DA863182;NG_007373;NM_000192;NM_080717;NM_181486;U80987;U89353;Y09445 AAC04619;AAC51644;AAF34659;AAH27942;ABZ92187;BAB55448;BAF83300;BAG62017;CAA70592;EAW98065;EAW98066;EAW98067;NP_000183;NP_542448;NP_852259;Q99593 Hs.381715 1339080;1700654;1759597;1798252;2153501 D12S1646;RH103950;RH70967;SHGC-150881;TBX5_2215 HOS OTTHUMP00000232132;OTTHUMP00000232133;OTTHUMP00000232134;OTTHUMP00000232135;T-box protein 5;T-box transcription factor TBX5 APPROVED protein-coding ENSG00000089225 11604 03372 142900;601620 REVIEWED 1349748 TC2N tandem C2 domains, nuclear 14 14 14 q32.12 72298880 72386499 - 91316279 91372436 - 92246266 92333880 - 737633;1580863;6480464 12477932 16344560;15489336;15489334;14702039;11526914;11230166;11076863;16381901;21029358;19322201 123036 H0YJ73;Q8N9U0 ABBA01030467;ABBA01030468;AK093876;AK126359;AL121839;AL590328;AMYH01005955;AW275132;BC040503;BX647828;CH471061;DA857139;DB215118;DB236967;NM_001128595;NM_001128596;NM_152332 AAH40503;BAC04238;BAC86538;CAL37569;CAL37937;EAW81462;EAW81463;EAW81464;NP_001122067;NP_001122068;NP_689545;Q8N9U0 Hs.510262 1673569;1708436;1713277 RH120630;SHGC-85001;WI-16622 C14orf47;C2CD1;FLJ36557;MTAC2D1;Tac2-N C2 calcium-dependent domain containing 1;OTTHUMP00000245155;OTTHUMP00000245156;OTTHUMP00000245157;OTTHUMP00000245158;membrane targeting (tandem) C2 domain containing 1;membrane targeting tandem C2 domain-containing protein 1;tandem C2 domains nuclear protein;tandem C2 protein in nucleus protein-coding ENSG00000165929 19859 11375 VALIDATED 1351284 TCEA1P1 transcription elongation factor A (SII), 1 pseudogene 1 9 9 9 q22.33 70344161 70347329 + 98869724 98872187 + 99829876 99833051 + 8112616 6918 ABBA01042939;AL445670;AMYH01021551;NG_001200;X75159 GTF2SP;TCEA1P APPROVED pseudo 11613 INFERRED 1317068 TBX6 T-box 6 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008] 16 16 16 p11.2 72692515 72698605 + 30004583 30010709 - 30097114 30103205 - 1578435;1578436;1580863;6480464 15864811;15986483 9888994;9933572;18466071;17584735;15489334;14702039;12477932;20228709 6911 O95947;Q9HA44 ABBA01013105;AC012645;AC093512;AJ007989;AJ010279;AK022330;AMYH01007497;BC026031;CH471238;NG_023283;NM_004608 AAH26031;ABZ92188;BAB14014;CAA07812;CAB37938;EAW79926;EAW79927;NP_004599;O95947 Hs.198301 1680234;1798254;5015961;5022322 D11S2560;D15S1477;RH64991;TBX6_2324 DFNB67 OTTHUMP00000162995;T-box protein 6;T-box transcription factor TBX6 APPROVED protein-coding ENSG00000149922 11605 03888 602427 REVIEWED 1348268 TCEA1P3 transcription elongation factor A (SII), 1 pseudogene 3 9 9 p13.1 38443817 38469347 + 38478471 38479344 + 340501;399550 ABBA01050379;AL390794;AMYH01019366;NG_021646 pseudo 30569 INFERRED 1351655 TCEA1P4 transcription elongation factor A (SII), 1 pseudogene 4 9 p21.1 32975721 32980439 - 100421350;399553 ABBA01065075;AL353717;AMYH01019321;NG_023798 1846773;2121424;2163437;5093580 A009S13;G32803;RH16252;SHGC-34030 pseudo 31091 INFERRED 735834 TBXA2R thromboxane A2 receptor This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] 19 19 p13.3 3545504 3557658 - 3594504 3606831 - 1578439;1578440;1578445;1578446;1578448;1331525;1580863;1601447;1601450;6480464;6484113;7240710 7929844;11922633;15372102;14718360;15834430;15118671;12409963;15647606 8246916;18647220;18573679;18529068;18502100;18172303;18088343;18088317;18073117;18063812;18031559;18005048;17924829;17644091;17499743;17496729;17249521;17229546;17192347;16953279;16837469;16413928;16212421;16156795;16126723;15898979;15845539;15805995;15519496;15489334;15471868;15354262;15242977;15233797;15134434;15057824;14976202;14963009;14602550;14583632;14580363;14530262;12796499;12781781;12551898;12477932;12213432;12193606;12180983;12000493;11877412;11848439;11504827;10402514;10395940;9152406;8613548;8433523;8290554;8288221;8119956;1825698;19403042;19264973;19247692;19170518;19086263;19064572;18950617;18802021;18698092;8227091;8034687;7965765;7896853;15086532;15782186;19067769;20590159;21172430;19913121;20628086;16418336;18240029;18577758;19403525;19464661;19570744;19747485;19772916;19828703;20395963;20959415;21070398;19853959;20856817;23162015;21357687;21740787;21734400;22008592;21342433;22272267;20522022;22101342;22017802;23255603;23107873;23349788;21491143 6915 K7ER80;P21731;Q05C92;Q0VAB0 ABBA01002835;AC005175;AJ308102;AJ308103;AMYH01009314;AY429110;BC028027;BC074749;BC074750;BC121148;BC121149;BM990145;CH471139;D15056;DQ268653;NG_013363;NM_001060;NM_201636;U11271;U27325 AAA58957;AAA68608;AAC24302;AAC24303;AAH28027;AAH74749;AAH74750;AAI21149;AAI21150;AAR07905;ABB72549;BAA03649;EAW69301;EAW69302;NP_001051;NP_963998;P21731 Hs.442530 1685522;2131474;2136050;5015861;5020414;5037552;7185938 D10S16;D19S1079;D8S2279;L17688;RH80749;STS-AA039932 BDPLT13;TXA2-R prostanoid TP receptor;thromboxane A2 receptor APPROVED protein-coding ENSG00000006638 11608 01768 188070;614009 REVIEWED 1344959 TCEA1P2 transcription elongation factor A (SII), 1 pseudogene 2 3 3 3 p22 37250598 37253220 + 37291984 37294753 + 37317028 37319650 + 17525332;17287340;17081983;15489334;15302935;8112616;7626141;1708494;1378807 399511 ABBA01024849;AC097359;AMYH01013087;NG_003186;X73534 CAA51940 2113236;2174026 D3S4495;D8S2054 pseudo 29891 INFERRED 736923 TBXAS1 thromboxane A synthase 1 (platelet) This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 7 7 q34-q35 139175421 139366471 + 139478047 139720125 + 1601439;1601456;1601470;1580863;1601450;1601455;1601457;1601459;1601461;1601472;634088;1601473;1300048;6480464;6907045;7240710 16192456;12639842;9700944;15647606;14650360;12384182;11331452;10560941;9370383;9261862;8982653 19403042;19343046;19276290;19124506;19114962;19064572;19046748;18264100;16357168;15870920;15489334;15128046;15067173;14718574;14565864;12853948;12721789;12477932;12432933;11956185;11782360;11465543;11418589;11337467;11297515;10391210;10391209;9890157;9847074;9678486;8964509;8900410;8889548;8366093;8325653;8198598;8125298;7986068;7925341;6101498;2195994;20383787;1930241;1730669;1714723;2043115;21388528;21449675;19913121;20628086;20673868;20677014;17207965;19729601;20227257;20379614;20452482;20647010;20931532;23314748;22735388;21215134;22493072;22293189;23007406;23251661 6916 B4DJG6;B7Z6W1;C9J8N6;C9JS68;E7EMU9;E7ENP0;E7EP08;E7EP75;F8WC80;F8WD37;Q16843;Q53F23;Q9HD78 AACC02000022;ABBA01034053;ABBA01034054;ABBA01034055;AC004914;AC004961;AC006021;AF233615;AF233616;AF233617;AF233618;AF233619;AF233620;AF233621;AF233622;AF233623;AF233624;AF233625;AK223466;AK296069;AK301049;AK301164;AK303440;AMYH01017981;AMYH01017982;AU099213;BC014117;BC041157;BM673654;CH236950;CH471070;D34625;L36085;M74055;M80646;M80647;NG_008422;NM_001061;NM_001130966;NM_001166253;NM_001166254;NM_030984;NR_029394;S60133 AAA36742;AAA60617;AAA60618;AAC01761;AAD21788;AAF99269;AAF99270;AAF99271;AAF99272;AAF99273;AAF99274;AAF99275;AAF99276;AAF99277;AAF99278;AAF99279;AAH14117;AAH41157;AAP21887;ADQ31780;BAA07011;BAD97186;BAG58828;BAG62753;BAG64487;BAH13397;EAW83934;EAW83935;EAW83936;NP_001052;NP_001124438;NP_001159725;NP_001159726;NP_112246;P24557 Hs.520757 1647754;1662761;1666067;1716233;1721205;1851507;1854363;2121416;2146085;2159305;2170491;2175695;2181043;2181885;2187255;5094386 D7S1986;D7S2000;D7S2734;G31117;G54648;G59443;GDB:1234284;GDB:1234290;GDB:1318585;GDB:3755023;GDB:3755104;GDB:4585667;GDB:4585705;RH121143;STS-T50718;TBXAS1 BDPLT14;CYP5;CYP5A1;FLJ52771;GHOSAL;THAS;TS;TXAS;TXS OTTHUMP00000211927;OTTHUMP00000211928;OTTHUMP00000211929;OTTHUMP00000211930;OTTHUMP00000211931;TXA synthase;cytochrome P450 5A1;cytochrome P450, family 5, subfamily A, polypeptide 1;platelet, cytochrome P450, subfamily V;thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A);thromboxane-A synthase APPROVED protein-coding ENSG00000059377 11609 02035 231095;274180;614158 REVIEWED 1605240 TCAIM T cell activation inhibitor, mitochondrial 3 3 3 p21.31 44317658 44388713 + 44354615 44425944 + 44379611 44450940 + 6480464 11256614;16381901;15489336;15489334;14702039;12477932;11230166;11076863;19684086;20877624 285343 Q8N3R3 ABBA01024746;ABBA01024747;ABBA01024748;ABBA01024749;AC104187;AC134943;AK056593;AK123680;AK124087;AK292756;AL832473;AL833118;AMYH01013119;AMYH01013120;BC009400;BC038420;BC047231;BC062587;BC073829;BC101058;BC101059;BC101060;BC101061;CH471055;DC413255;NM_001029839;NM_001029840;NM_173826 AAH09400;AAH38420;AAH47231;AAH62587;AAH73829;AAI01060;AAI01061;AAI01062;BAF85445;BAG51758;BAG54004;CAD38627;CAL38235;EAW64703;EAW64704;EAW64705;EAW64706;NP_001025010;NP_001025011;NP_776187;Q8N3R3 Hs.55131 1646158;1674137;1695868;1700618;5023483 RH103931;RH46999;SHGC-76887;SHGC-76890;SHGC-78812 C3orf23;DKFZp313N0621;FLJ41686;MGC119530;MGC119531;MGC119532;MGC119533;TOAG-1;TOAG1 OTTHUMP00000164044;OTTHUMP00000209294;OTTHUMP00000209295;OTTHUMP00000209307;OTTHUMP00000209308;T-cell activation inhibitor, mitochondrial;hypothetical protein LOC285343;tolerance associated gene-1;tolerance associated gene-1 protein;uncharacterized protein C3orf23 APPROVED protein-coding ENSG00000179152 25241 13184 VALIDATED 1348921 TCAP titin-cap Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008] 17 17 q12 35075125 35076333 + 37821599 37822807 + 1580863;6480464;7240710 14702039;9817758;9350988;11846417;17921333;19412328;18849585;18513529;18408010;17117180;16713569;16713295;16678796;16650785;16531234;16490376;16407954;16352453;16344560;15967462;15582318;15489334;15136035;15010812;12507422;12477932;12446666;12209887;11842093;11763198;11699871;10984498;10655062;9804419;9645487;9245996;15802564;16962094;19679566;19875404;20201937;20474083;20373002;20602615;21683594;21900206;20301486;20301725;11697903;21988832 8557 A2TDC0;J3KT40;O15273 ABBA01031860;AC087491;AJ000491;AJ010063;AJ011098;AK096328;AMYH01008375;BC012628;BC013330;BF670957;CH471152;DA899335;EF179184;NG_008892;NM_003673 AAH12628;AAH13330;ABM83738;ABM87057;ABN05287;BAG53261;CAA04129;CAA08987;CAA09479;EAW60586;EAW60587;NP_003664;O15273 Hs.77628 1657258;2107669;2163015 RH41770;RH66625;TCAP__5226 CMD1N;LGMD2G;T-cap;TELE;telethonin 19 kDa sarcomeric protein;OTTHUMP00000164283;limb girdle muscular dystrophy 2G (autosomal recessive);telethonin;titin cap protein APPROVED protein-coding 11610 05133 601954;604488;607487 REVIEWED 6481208 TCEAL3-AS1 TCEAL3 antisense RNA 1 100874119 AL049610 APPROVED miscrna 41191 1346044 TCEAL3 transcription elongation factor A (SII)-like 3 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.2 103301848 103303869 + 102749490 102751511 + 102862834 102864855 + 737633;1580863;6480464 12477932 17081983;15772651;15489334;14702039;10051408 85012 Q969E4 ABBA01032883;ABBA01032884;ABBA01032885;AF163263;AK098494;AMYH01022798;BC007622;BC008703;CH471190;NM_001006933;NM_032926;Z73965 AAH07622;AAH08703;AAQ13592;ABZ92136;BAC05318;EAW54703;EAW54704;NP_001006934;NP_116315;Q969E4 Hs.311776 1651472;2114579;2141636;2165071 A005E02;RH17462;RH78743;SHGC-34973 MGC15737 OTTHUMP00000023757;OTTHUMP00000023758;TCEA-like protein 3;transcription elongation factor A protein-like 3;transcription elongation factor S-II protein-like 3 APPROVED protein-coding ENSG00000196507 28247 06636 REVIEWED 6480906 TCEAL4P1 transcription elongation factor A (SII)-like 4 pseudogene 1 13 37316010 37316563 - 100874432 ABBA01021355;AL136160;AMYH01005038;NG_032322 pseudo 39582 INFERRED 1322790 TCEA3 transcription elongation factor A (SII), 3 1 1 1 p36.12 22037208 22080967 - 23580142 23623848 - 23707555 23751261 - 1580863;6480464 9765201;15489334;12477932;9790746;1559613;19913121;20628086;20178742 6920 O75764;Q5DR83 AA873235;ABBA01059870;ABBA01059871;ABBA01059872;AJ223473;AK027024;AK290272;AK300707;AK310039;AL109936;AL357134;AMYH01000359;AY540752;BC041613;BE880226;BQ949868;CH471134;NM_003196 AAH41613;AAT44402;ABZ92434;BAF82961;BAG62386;CAA11393;EAW95048;EAW95049;NP_003187;O75764 Hs.446354 1680777;1691846;1757559;1780046;1798256;1854069;1855817;2161531 AL033979;G29597;G34867;RH91405;SHGC-145023;SHGC-154299;SHGC-74374;TCEA3_2530 TFIIS;TFIIS.H OTTHUMP00000003267;rhabdomyosarcoma antigen MU-RMS-40.22;transcription elongation factor A protein 3;transcription elongation factor S-II protein 3;transcription elongation factor TFIIS.h protein-coding ENSG00000204219 11615 16036 604128 VALIDATED 1320461 TCEA1 transcription elongation factor A (SII), 1 8 8 q11.2 55041669 55097561 - 54879116 54935008 - 6480464 9305922;1708494;11313499;12676794;17081983;16736500;16648364;16630816;16344560;15635413;15489334;15351637;15302935;14702039;14506279;12943681;12914699;12878157;12761297;12477932;11591653;9765293;9765201;8812434;8798387;8566795;8206389;8112616;7626141;2471707;1559613;1378807;20729154;17643375;21070792;21596312;21832049;22863883;22939629;18029348;20178742;21127351;21139048;21890473;16916636;22505724 6917 B7Z4S1;E5RFI1;E5RIS7;E5RJ93;E5RK46;P23193 ABBA01041733;ABBA01041734;AC100821;AK026617;AK094425;AK290454;AK297729;AK297957;AMYH01018723;AU125645;AU280634;BC072460;BM477937;BT019995;BX538034;CH471068;CR542221;M81601;NM_006756;NM_201437;X57198;X62585 AAA61138;AAH72460;AAV38798;BAF83143;BAH12657;BAH12696;CAA40484;CAA44470;CAG47017;EAW86739;EAW86740;EAW86741;NP_006747;NP_958845;P23193 Hs.491745 1688999;2113236;2174026 D3S4495;D8S2054;RH66562 GTF2S;SII;TCEA;TF2S;TFIIS OTTHUMP00000226277;OTTHUMP00000226278;transcription elongation factor A protein 1;transcription elongation factor S-II protein 1;transcription elongation factor TFIIS.o protein-coding ENSG00000187735 11612 03252 601425 VALIDATED 731353 TCEA2 transcription elongation factor A (SII), 2 The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.33 62158883 62174143 + 62688439 62703700 + 1580863;6480464 16169070;16189514;8566795;17374514;16214896;15507123;15489334;14702039;12943681;12761297;12477932;12034815;11780052;11709559;9765201;9441762;1559613;18655026;12392551;17643375;21832049;22939629;18029348 6919 Q15560;Q5JRI7;Q5JRI8;Q6IB64;Q86VL0 ABBA01021439;AJ844626;AJ844627;AK027824;AL355803;AL590548;AMYH01012097;AW474513;BC014211;BC018896;BC031877;BC050623;BC050624;BC056407;BC098585;BI668232;BI756937;CB961240;CH471077;CR456940;D50495;NM_003195;NM_198723;U86749 AAC39553;AAH18896;AAH50623;ABZ92433;BAA09089;BAG51383;CAG33221;CAH59746;EAW75168;EAW75169;EAW75170;NP_003186;NP_942016;Q15560 Hs.505004;Hs.736326 1681440;5124686 RH78646;RH92396 TFIIS OTTHUMP00000031634;OTTHUMP00000031635;OTTHUMP00000031636;OTTHUMP00000031637;OTTHUMP00000031638;testis-specific S-II;transcription elongation factor A protein 2;transcription elongation factor S-II protein 2;transcription elongation factor TFIIS.1;transcription elongation factor TFIIS.l APPROVED protein-coding ENSG00000171703 11614 16069 604784 REVIEWED 1352968 TCEAL1 transcription elongation factor A (SII)-like 1 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X q22.1 102770304 102772537 + 102883648 102885881 + 1580863;6480464 16331344;16054204;15807891;15773840;15772651;15489334;12477932;11248419;10353443;10051408;8206389;7592688;17353931;16341674;7971997;18640142;16697770;16542834;16364249;19475409;19615732;20211142;21139048;17848574 9338 Q15170 ABBA01032878;ABBA01032879;AF095906;AL049610;AMYH01022798;BC000809;BM784458;BU602495;BX092470;CB053221;CF454849;CH471190;M99701;NM_001006639;NM_001006640;NM_004780 AAA60149;AAD17840;AAH00809;ABM85299;ABW03709;EAW54702;NP_001006640;NP_001006641;NP_004771;Q15170 Hs.95243 1688811;1855079 RH80258;STS-M99701 SIIR;p21;pp21 OTTHUMP00000024293;OTTHUMP00000024294;OTTHUMP00000024295;TCEA-like protein 1;nuclear phosphoprotein p21/SIIR;transcription elongation factor A protein-like 1;transcription elongation factor S-II protein-like 1 APPROVED protein-coding ENSG00000172465 11616 02211 300237 REVIEWED 7241986 TCEAL8P1 transcription elongation factor A (SII)-like 8 pseudogene 1 101059982 ABBA01030868;AC104440;AMYH01013256 pseudo 45245 MODEL 1351026 TCEAL4 transcription elongation factor A (SII)-like 4 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been described. [provided by RefSeq, Jul 2008] X X X q22.2 103279428 103281666 + 102727075 102729313 + 102840419 102842657 + 737633;6480464 12477932 17081983;17076909;15772651;15489334;14702039;12905813;10051408;8125298;17207965;19615732;18781797;21987572;21139048;21890473;21906983;22863883;22505724 79921 D6RCE9;D6RD44;D6RHZ1;D6RIH3;J3KQY4;Q96EI5 ABBA01032887;AF271783;AF314542;AK024827;AK093021;AK225117;AL833640;AMYH01022798;AY885169;BC012296;BU536419;CD700101;CH471190;NG_016315;NM_001006935;NM_001006937;NM_024863;Z73965 AAG44794;AAH12296;AAL40909;AAX82039;ADQ31616;BAB15023;EAW54705;EAW54706;NP_001006936;NP_001006938;NP_079139;Q96EI5 Hs.194329 1674169 STS-W88790 DKFZp686M0279;FLJ21174;NPD017 OTTHUMP00000160534;OTTHUMP00000217589;OTTHUMP00000217590;OTTHUMP00000217591;OTTHUMP00000217592;OTTHUMP00000217593;OTTHUMP00000217594;OTTHUMP00000217595;OTTHUMP00000217596;OTTHUMP00000217597;TCEA-like protein 4;transcription elongation factor A protein-like 4;transcription elongation factor S-II protein-like 4 APPROVED protein-coding ENSG00000133142 26121 06537 REVIEWED 1342883 TCEAL2 transcription elongation factor A (SII)-like 2 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq, Jul 2008] X X X q22.1-q22.3 101901221 101903245 + 101267316 101269340 + 101380660 101382684 + 1580863;6480464 15772651;15489334;12477932;10051408;9776767;8889548;21145461;19615732;21832049;19953087;21139048;22505724 140597 Q9H3H9 ABBA01045057;ABBA01045058;AF325115;AK312138;AL035214;AMYH01022735;BC093932;BC104764;BM699243;CD580311;CH471115;NG_012818;NM_080390 AAH93932;AAI04765;AAL37355;ABZ92140;BAG35074;EAX02900;NP_525129;Q9H3H9 Hs.401835 1697202;2109015;5493811 RH102092;UniSTS:495115;my048__6183.2 MY0876G05;my048 OTTHUMP00000023704;TCEA-like protein 2;transcription elongation factor A protein-like 2;transcription elongation factor S-II protein-like 2 APPROVED protein-coding ENSG00000184905 29818 06761 REVIEWED 1352350 TCEAL8 transcription elongation factor A (SII)-like 8 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.1 102946932 102949130 - 102394579 102396777 - 102507923 102510121 - 737633;1580863;6480464 12477932 15772651;15489334;10051408;21832049;21906983;18624398;19322201 90843 Q5H9L1;Q8IYN2 ABBA01021029;ABBA01021030;ABBA01021031;ABBA01021032;AK026349;AL833632;AMYH01022797;BC035573;BU932815;CH471190;NG_016256;NM_001006684;NM_153333;Z68694 AAH35573;ABZ92134;EAW54718;NP_001006685;NP_699164;Q8IYN2 Hs.389734 1652091;1657011;2155251 A002R41;RH35755;STS-R85811 MGC45400 OTTHUMP00000023731;OTTHUMP00000023732;TCEA-like protein 8;transcription elongation factor A protein-like 8;transcription elongation factor S-II protein-like 8 APPROVED protein-coding ENSG00000180964 28683 06656 REVIEWED 1354272 TCEAL5 transcription elongation factor A (SII)-like 5 This gene, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. [provided by RefSeq, Sep 2011] X X X q22.1 102967625 102970804 - 102415275 102418456 - 102528618 102531797 - 6480464 12477932;15772651;8889548 340543 Q5H9L2 ABBA01021032;AF086094;AMYH01022797;BC132922;BC132924;BM725918;CH471190;NG_016591;NM_001012979;Z68694 AAI32923;AAI32925;EAW54717;NP_001012997;Q5H9L2 Hs.403462 OTTHUMP00000023730;TCEA-like protein 5;transcription elongation factor A protein-like 5;transcription elongation factor S-II protein-like 5 APPROVED protein-coding ENSG00000204065 22282 18502 REVIEWED 1352768 TCEB1P transcription elongation factor B (SIII), polypeptide 1 pseudogene 7 q11.21 65525354 65526468 - 12853948;9847074;9031623;8912791;8646875;8530064 6922 AC008267;CH236961;NG_002399 ABZ92540 EMC19;OCP2;TCEB1L pseudo 11618 3051002 TCEB1P11 transcription elongation factor B (SIII), polypeptide 1 pseudogene 11 Y Y 8818164 8818495 + 28137388 28137719 - 100462872 ABBA01008099;AC007965;NG_021932 pseudo 38147 INFERRED 4109289 TCEB1P12 transcription elongation factor B (SIII), polypeptide 1 pseudogene 12 Y 20230369 20230696 + 9847074 100462874 AC095380;NG_004636 pseudo 38148 VALIDATED 3051003 TCEB1P10 transcription elongation factor B (SIII), polypeptide 1 pseudogene 10 Y Y 10226477 10226803 - 26153058 26153384 - 100462871 ABBA01000443;AC068601;NG_021925 pseudo 38146 INFERRED 4109288 TCEB1P13 transcription elongation factor B (SIII), polypeptide 1 pseudogene 13 Y 20602683 20603011 + 9847074 100462875 AC069130;NG_004636 pseudo 38149 VALIDATED 4108630 TCEB1P15 transcription elongation factor B (SIII), polypeptide 1 pseudogene 15 Y 24214967 24215298 + 100462877 AC007359;NG_004755 pseudo 38151 VALIDATED 4108628 TCEB1P16 transcription elongation factor B (SIII), polypeptide 1 pseudogene 16 Y 25824651 25824982 + 100462878 AC016752;NG_004755 pseudo 38152 VALIDATED 4108627 TCEB1P17 transcription elongation factor B (SIII), polypeptide 1 pseudogene 17 Y 28007090 28007415 + 100462879 AC017005;NG_004755 pseudo 38153 VALIDATED 2974690 TCEB1P18 transcription elongation factor B (SIII), polypeptide 1 pseudogene 18 1 1 1 p31.3 67131246 67131586 - 68613593 68613933 - 68841005 68841345 - 100130626 ABBA01074506;AL139413;AMYH01000693;NG_022971 1763473 SHGC-147176 pseudo 38154 INFERRED 3051000 TCEB1P19 transcription elongation factor B (SIII), polypeptide 1 pseudogene 19 1 1 87540586 87540889 + 89294796 89295099 + 100462880 ABBA01045594;AL136381;AMYH01000777;NG_022789 pseudo 38155 INFERRED 1347340 TCEAL7 transcription elongation factor A (SII)-like 7 X X X q22.1 103024116 103026253 + 102471821 102473910 + 102585114 102587251 + 737633;6480464 12477932 19419758;18806825;15870691;15772651;15489334;14702039;16344560;19966855;20454512;21900206;23372750 56849 Q9BRU2;Q9NQ44 ABBA01021039;AJ297363;AK094400;AMYH01022797;BC005988;BC016786;CH471190;DA142141;DB481725;NM_152278;Z92846 AAH05988;AAH16786;ABZ92139;ABZ92152;BAG52864;CAB95948;EAW54714;NP_689491;Q9BRU2 Hs.21861 1664061 RH12449 MGC23947;MPMGp800C04260Q003 OTTHUMP00000023737;OTTHUMP00000023738;TCEA-like protein 7;transcription elongation factor A protein-like 7;transcription elongation factor S-II protein-like 7 protein-coding ENSG00000182916 28336 06641 300771 VALIDATED 1343367 TCEB1P2 transcription elongation factor B (SIII), polypeptide 1 pseudogene 2 15 15 15 q15.1 18617146 18617845 + 39636367 39637266 + 41849175 41849874 + 283747 ABBA01038401;AC016134;AMYH01006574;NG_003219;NG_033013 pseudo 17762 INFERRED 3077614 TCEB1P20 transcription elongation factor B (SIII), polypeptide 1 pseudogene 20 1 1 p13.2-p13.1 114273367 114328985 + 116099366 116100090 + 100287778 ABBA01068474;AL592436;AMYH01000969;NG_028102 1754197 SHGC-132232 pseudo 38156 VALIDATED 3051008 TCEB1P21 transcription elongation factor B (SIII), polypeptide 1 pseudogene 21 2 2 71033513 71034131 - 71182830 71183448 - 100462866 ABBA01075545;AC007040;AMYH01010425;NG_021506 pseudo 38157 INFERRED 4109287 TCEB1P14 transcription elongation factor B (SIII), polypeptide 1 pseudogene 14 Y 19746629 19746959 + 9847074 100462876 AC007379;NG_004636 pseudo ENSG00000228193 38150 VALIDATED 3129500 TCEB1P22 transcription elongation factor B (SIII), polypeptide 1 pseudogene 22 11 11 q23.3 117650058 117650406 - 120490631 120490979 - 100287579 ABBA01039651;AMYH01004091;AP002348;NG_022978 pseudo ENSG00000255006 38158 INFERRED 3050999 TCEB1P23 transcription elongation factor B (SIII), polypeptide 1 pseudogene 23 13 13 59960750 59961080 + 79062317 79062647 + 100462881 ABBA01021678;AL445209;AMYH01005226;NG_021970 pseudo 38159 INFERRED 3102873 TCEB1P24 transcription elongation factor B (SIII), polypeptide 1 pseudogene 24 X X;Y q28 and Yq12 155365145 155365478 - 59311663 59311996 - 100287692 ABBA01028635;AJ271736;AMYH01023345;NG_023013 TCEB1P25 pseudo 38160 INFERRED 2837481 TCEB1P25 transcription elongation factor B (SIII), polypeptide 1 pseudogene 25 Y q12 59311663 59311996 - 100288710 AJ271736 pseudo 38525 6907345 TCEB1P26 transcription elongation factor B (SIII), polypeptide 1 pseudogene 26 q11.222 9847074 101059905 AC024183;NG_033276 pseudo 38731 INFERRED 3051001 TCEB1P4 transcription elongation factor B (SIII), polypeptide 1 pseudogene 4 Y Y 161242 161563 - 9068535 9068856 + 100462873 AC009952;NG_021935 pseudo 38141 INFERRED 2902393 TCEB1P5 transcription elongation factor B (SIII), polypeptide 1 pseudogene 5 Y Y q11.223 8472958 8473294 - 23793565 23793901 - 100288493 ABBA01049553;AC021107;NG_023022 pseudo 38140 INFERRED 3051007 TCEB1P6 transcription elongation factor B (SIII), polypeptide 1 pseudogene 6 Y 19949081 19949408 - 100462867 AC095381;NG_004636 pseudo 38142 VALIDATED 3051006 TCEB1P7 transcription elongation factor B (SIII), polypeptide 1 pseudogene 7 Y 20694212 20694542 - 100462868 AC022486;NG_004636 pseudo 38143 VALIDATED 3051005 TCEB1P8 transcription elongation factor B (SIII), polypeptide 1 pseudogene 8 Y Y 8818164 8818495 + 24663389 24663720 - 100462869 ABBA01018411;AC008175;NG_021922 pseudo 38144 INFERRED 1626552 TCEB1P3 transcription elongation factor B (SIII), polypeptide 1 pseudogene 3 10 10 10 p14 10144679 10145302 + 10256199 10256546 + 10216117 10216740 + 21145461;23251661 644540 ABBA01034707;AL136318;AMYH01002020;NG_009727 1745969 RH124339 dJ254P11.1 APPROVED pseudo 29457 INFERRED 3051004 TCEB1P9 transcription elongation factor B (SIII), polypeptide 1 pseudogene 9 Y Y 10028421 10028746 - 25954968 25955293 - 100462870 ABBA01008100;AC073649;NG_021924 pseudo 38145 INFERRED 5129358 TCEB2P2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 2 11 11 11 q24.3 127070865 127071327 - 129407820 129408482 - 129902710 129903172 - 15297736 253665 ABBA01023026;AMYH01004125;AMYH01004126;AP003041;CH471065;NG_005176 EAW67767 pseudo 39720 INFERRED 5684145 TCEB2P3 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 3 2 p16.3 49007741 49008036 + 100856810 ABBA01075199;AC091788;AMYH01010339;NG_031883 pseudo 39721 INFERRED 5129411 TCEB2P1 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 1 13 13 13 q12 7004157 7004593 - 24837837 24838393 - 25939901 25940337 - 246717 ABBA01007902;AL138958;AMYH01004978;NG_001581 2155705 RH44069 pseudo 39719 INFERRED 6480901 TCEB2P4 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 4 10 34777507 34777806 - 100874519 ABBA01033358;AL360233;AMYH01002230;NG_032352 pseudo 39722 INFERRED 1606134 TCEAL6 transcription elongation factor A (SII)-like 6 X X X q22.1 101915493 101917948 - 101281589 101284044 - 101394933 101397388 - 6480464 15772651;15489334;12477932;22379092 158931 Q6IPX3 ABBA01045059;AMYH01022735;AMYH01022736;BC071675;CH471115;DN993514;NM_001006938;Z70719 AAH71675;EAX02901;EAX02902;NP_001006939;Q6IPX3 Hs.447815 1701822;7184764 DXS101 Tceal3 OTTHUMP00000023706;TCEA-like protein 6;transcription elongation factor A (SII)-like 3;transcription elongation factor A protein-like 6;transcription elongation factor S-II protein-like 6 protein-coding 24553 17311 VALIDATED 1606976 TCEANC2 transcription elongation factor A (SII) N-terminal and central domain containing 2 1 1 1 p32.3 52806939 52853081 + 54291862 54338004 + 54519274 54565416 + 6480464 14702039;12477932;21832049;20379614 127428 Q96MN5 ABBA01074728;ABBA01074729;AK056674;AK096488;AL049253;AL353898;AMYH01000632;BC035374;CH471059;NM_153035 AAH35374;ABZ92131;BAB71250;BAC04803;EAX06703;NP_694580;Q96MN5 Hs.558618 C1orf83;FLJ32112;FLJ39169;RP4-758J24.3 OTTHUMP00000010104;OTTHUMP00000010128;hypothetical protein LOC127428;transcription elongation factor A (SII) N-terminal and central domain containing 2;transcription elongation factor A N-terminal and central domain-containing protein 2 APPROVED protein-coding ENSG00000116205 26494 08722 PROVISIONAL 2303433 TCEANC transcription elongation factor A (SII) N-terminal and central domain containing X X X p22.2 17788368 17799301 + 13581228 13592168 + 13671307 13682247 + 6480464 16189514;16344560;15489334;14702039;12477932;20098747;20211142;21832049;19953087;16713569 170082 H0YF26;Q8N8B7 ABBA01071127;AC079383;AK097032;AK291271;AK294465;AK315599;AMYH01022096;BC020095;BC044219;CH471074;DA926246;DC344354;NM_152634 BAC04930;BAF83960;BAG37970;BAG57696;EAW98823;NP_689847;Q8N8B7 Hs.222855;Hs.737398 2115518;2220276;5020635;5037552 AB047619;D7S3207;D8S2279;RH45511 MGC17403 TFIIS central domain-containing protein 1;TFS2-M domain-containing protein 1;transcription elongation factor A N-terminal and central domain-containing protein protein-coding ENSG00000176896 28277 VALIDATED 1626264 TCEB3CL2 transcription elongation factor B polypeptide 3C-like 2 18 18 q21.1 42796729 42798605 - 44542731 44544607 - 16177791 100506888 A6NLF2 AB076840;AC090373;AMYH01008974;BC103912;BC103913;NM_001242907 A6NLF2;AAI03913;AAI03914;BAC01113;NP_001229836 Hs.515381;Hs.729823 RNA polymerase II transcription factor SIII subunit A3-like-2;eloA3-like-2;elongin-A3-like-2;transcription elongation factor B polypeptide 3C-like 2;transcription elongation factor B polypeptide 3C-like-2 protein-coding ENSG00000266996 33511 VALIDATED 1346594 TCEB3C transcription elongation factor B polypeptide 3C (elongin A3) The SIII (or elongin) transcription elongation factor complex stimulates the rate of transcription elongation by RNA polymerase II by suppressing the transient pausing of the polymerase at many sites along the DNA template. This complex is a heterotrimer, composed of the transcriptionally active subunit A, A2 or A3 (or elongin A, A2 or A3) and two regulatory subunits, B and C (or elongin B and C). This gene encodes subunit A3. A3 and A are ubiquitously expressed, whereas A2 is specifically expressed in the testis. [provided by RefSeq, Mar 2010] 18 18 18 q21.1 41350189 41350739 - 42808571 42810447 - 44554573 44556449 - 1580863;6480464 12477932;11994304;11932239;8889548;15717329 162699 Q8NG57 AB076840;ABBA01018616;AC012254;AMYH01008974;BC103912;BC103913;BQ185879;NG_016749;NM_145653 AAI03913;AAI03914;AAI72326;ABZ92135;BAC01113;NP_663628;Q8NG57 Hs.515381;Hs.729823;Hs.742303 2126975 D18S1247 HsT829;TCEB3L2 OTTHUMP00000163488;RNA polymerase II transcription factor SIII subunit A3;eloA3;elongin-A3 APPROVED protein-coding ENSG00000183791 24617 15479 REVIEWED 1349544 TCEB3B transcription elongation factor B polypeptide 3B (elongin A2) This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. [provided by RefSeq, Jul 2008] 18 18 18 q21.1 41409470 41412515 - 42812941 42815986 - 44558943 44561988 - 730113;730012;1580863;6480464 7660129;8244996 10692460;16713569;16189514;15489334;12477932 51224 Q3SY90;Q8IYF1 AB030834;ABBA01018616;AC012254;AK314984;AMYH01008974;BC036022;BC103911;CH471096;HC007324;HC044685;NM_016427 AAH36022;AAI03912;ADZ15479;BAA90665;BAG37483;CBH19467;CBH30672;EAW62900;NP_057511;Q8IYF1 Hs.375035 ELOA2;HsT832;MGC119351;TCEB3L OTTHUMP00000163486;RNA polymerase II transcription factor SIII subunit A2;elongin-A2;transcription elongation factor (SIII) elongin A2 elongin A2 APPROVED protein-coding ENSG00000206181 30771 18169 609522 REVIEWED 1343292 TCEB3CL transcription elongation factor B polypeptide 3C-like 18 18 q21.1 42802656 42804296 - 44548658 44550298 - 6480464 12477932 728929 Q3SY89 AB076840;AC012254;AC090373;AMYH01008974;BC103912;BC103913;NM_001100817 AAI03913;AAI03914;BAC01113;NP_001094287;Q3SY89 Hs.515381 HsT828;MGC119353 RNA polymerase II transcription factor SIII subunit A3-like-1;eloA3-like-1;elongin-A3-like-1;transcription elongation factor B polypeptide 3C-like-1 protein-coding ENSG00000234298 31007 PROVISIONAL 736026 TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008] 1 1 p36.1 23942549 23958974 + 24069856 24088549 + 730113;1580863;6480464 7660129 18029348;12676794;17081983;16710414;16498413;16189514;15635413;15489334;15302935;15207703;14702039;12943681;12477932;12076535;11994304;11384984;10587522;9806752;9305922;9110174;8654961;8619474;8586449;11810028;10051596;19730683;12048197;22939629;22990118;16957778;19766566;21139048;17148442;18187417;10692460;10449727;17690245;7660122 6924 Q14241 ABBA01059886;AF070554;AF116729;AK096079;AK310229;AK313079;AL031295;AMYH01000361;AW451236;BC002883;BC019949;BC020448;CH471134;DB461774;L47345;NM_003198 AAA75492;AAH02883;AAO15305;ABM83952;ABM87269;BAG35905;EAW95070;EAW95071;NP_003189;Q14241 Hs.15535 1649070;1651459;1681171;1757473;1778446;2129255;2149375;2175774;2184566;5015959;5017227;5024039;5037552 D10S2448;D16S325;D8S2279;G38154;RH48114;RH65778;RH69057;RH93681;SGC35583;SHGC-144848;SHGC-33880;SHGC-74400;SHGC-74402 EloA;FLJ38760;FLJ42849;SIII;SIII p110;TCEB3A OTTHUMP00000002990;RNA polymerase II transcription factor SIII subunit A1;elongin 110 kDa subunit;elongin-A;transcription elongation factor B alpha subunit;transcription elongation factor B polypeptide 3;transcription elongation factor b (siii), polypeptide 3 APPROVED protein-coding ENSG00000011007 11620 02873 600786 REVIEWED 733902 TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 8 8 q21.11 75021188 75046900 - 74857373 74884522 - 1580863;6480464;6483358;6484113;6907045 19364912 10851083;7660129;14564014;15781449;12676794;18844214;18508766;16675548;16503656;16189514;15590664;15574592;15489334;15280393;14960280;12943681;12559969;12477932;12149480;12052866;12050673;12004076;12004003;11994304;11739384;11384984;11006129;10973499;10692460;10587522;10535940;10449727;10205047;10051596;9447969;9122164;8244996;7821821;7660130;7660122;16303161;15574593;19030229;18305400;17353931;8674032;17183367;17304241;17558023;19159283;19615732;20379614;20728451;15899873;15965468;15966899;20086098;20211142;10823831;12604794;16341674;16344560;16961462;17898068;8889548;19706539;22863883;22990118;10421634;21658608;17965024;21386990;22939629;15060148;19327355;17786314;17244529;17869271;18775313;19339690;19385048;19584355;19855191;19940151;20302626;20360068;20463065;20532212;20639865;21030588;21119685;21130766;21139048;21199876;21726808;21890473;21906983;21942715;21980433;22537386;19300455;19695223;20300531;21685897;21822215;22174154;22234250;22479405;10224134;15611064;16530799;17069461;17148442;17351129;17922844;18187417;18499212;18562529;19109396;15935760;17135358;17986458;20871634;21145461;22001063;22084247;22379088;22912744;15601820;12783885;14636579;9751722;17110338;18323857;21963094;21988832;22787435;23460923;17285170;18541215;18789977;19008196;19038776;19218568;19295130;20096141;20174454;20450485;22190034;22190036;22190037;22505724;23083832 6921 E5RHG8;Q15369;R4GMY8 ABBA01041976;AC022868;AK057889;AL832244;AMYH01018798;BC013809;BC093065;BC100028;BC100283;BG428202;BG703267;BG767430;BM720777;BM821650;BX649138;CF129635;CH471068;CX166168;CX166843;DA537957;L34587;NM_001204857;NM_001204858;NM_001204859;NM_001204860;NM_001204861;NM_001204862;NM_001204863;NM_001204864;NM_005648 AAA67650;AAH13809;AAH93065;AAI00029;AAI00284;ABM85123;ABW03698;EAW87015;EAW87016;EAW87017;EAW87018;EAW87019;EAW87020;EAW87021;NP_001191786;NP_001191787;NP_001191788;NP_001191789;NP_001191790;NP_001191791;NP_001191792;NP_001191793;NP_005639;Q15369 Hs.533437;Hs.554594;Hs.731928 2143491;5016851 RH16001;RH80031 SIII;eloC OTTHUMP00000226846;OTTHUMP00000226847;OTTHUMP00000226848;OTTHUMP00000226849;OTTHUMP00000226850;OTTHUMP00000226851;OTTHUMP00000226852;OTTHUMP00000227658;RNA polymerase II transcription factor SIII subunit C;SIII p15;eloC;elongation factor siii p15 subunit;elongin 15 kDa subunit;elongin-C;transcription elongation factor B polypeptide 1;transcription elongation factor B, polypeptide 1 APPROVED protein-coding ENSG00000154582 11617 02875 600788 REVIEWED 734149 TCEB2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 2008] 16 16 p12.3 2761416 2767298 - 2821415 2827297 - 6480464;6483358;6484113;6907045 19364912 10823831;21447700;14960280;12943681;12559969;12477932;12149480;12052866;12050673;12004076;11994304;11739384;11384984;11006129;10973499;10692460;10587522;10535940;10449727;10205047;10051596;9765201;9122164;8244996;7660130;7660122;7638163;16303161;15574593;18173839;19030229;17353931;7660129;14564014;15781449;12676794;18508766;17611602;16675548;16503656;16189514;15616553;15590664;15574592;15489334;15935760;17135358;17986458;18247557;20871634;21145461;22912744;20728451;17636018;19615732;12048197;15965468;15966899;20211142;12604794;16961462;17898068;17213182;8889548;19706539;22863883;22939629;15601820;23275444;21386990;15060148;19327355;20049704;18775313;21130766;21980433;17786314;12938929;17244529;17869271;19385048;19940151;20302626;20463065;20532212;21030588;21119685;21139048;21890473;21906983;21942715;21987572;10224134;16530799;17069461;17304241;17339318;17351129;17922844;18187417;18562529;19159283;19300455;19622774;21628590;21822215;22174154;22234250;22286099;22479405;14636579;22284679;9751722;16007195;17285170;17690245;18541215;18789977;19008196;19038776;19218568;19295130;20096141;20174454;20450485;22190034;22190036;22190037;15590694 6923 B8ZZU8;I3L0M9;Q15370 ABBA01026713;ABBA01026714;AC004493;AC092117;AC093517;AI191983;AMYH01007084;AMYH01007085;BC013306;BC065000;BF967495;BG329435;BM553320;BM700019;BM921799;BU533433;CH471112;DT217333;L42856;NM_007108;NM_207013 AAA75522;AAC08452;AAH13306;AAH65000;ABZ92541;EAW85472;EAW85473;EAW85474;EAW85475;EAW85476;NP_009039;NP_996896;Q15370 Hs.172772 1678479;1717449;1736552;1738753;1773213;1846674;2132171;2155705;2185534;2218084 D16S2549E;D16S2844;D9S2087;RH122227;RH44069;RH92618;SHGC-32846;SHGC-61065;SHGC-61169;TCEB2_3482 ELOB;SIII OTTHUMP00000205114;OTTHUMP00000205115;OTTHUMP00000205116;RNA polymerase II transcription factor SIII p18 subunit;RNA polymerase II transcription factor SIII subunit B;SIII p18;elongin 18 kDa subunit;elongin, 18-kD subunit;elongin-B;transcription elongation factor B polypeptide 2;transcription elongation factor b (siii) polypeptide 2 (18kd, elongin b) APPROVED protein-coding ENSG00000103363 11619 02874 600787 REVIEWED 1323365 TCERG1 transcription elongation regulator 1 This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008] 5 5 q31 145807066 145871262 + 145826873 145891069 + 1580863;6480464;6907045 9315662;15383276;18187414;17018562;16782886;16644732;16344560;15635413;15485897;15456888;15296517;14672652;12821179;12477932;12376575;12226669;11604498;11172033;11003711;10908677;10373521;9731529;14499622;15561718;19660470;19715701;19845895;20215116;17218272;20936779;16055720;17332742;22453921;22939629;21503969;21252943;21139048;21693764;21890473;21906983;22158966;19471022;19738201;20467438;22623428;23000965;23436654;19966273 10915 G3V220;O14776 AB209910;ABBA01026338;ABBA01026339;AC011375;AF017789;AK074511;AK126455;AK304319;AMYH01015686;AU125627;BC006109;BC014151;BC015864;BC035150;BC062351;BC111727;CH471062;DA034307;DA737038;NM_001040006;NM_006706 AAB80727;AAI11728;BAD93147;BAH14157;EAW61840;EAW61841;EAW61842;NP_001035095;NP_006697;O14776 Hs.443465 1700832;1730337;1785378;1791288;1793824;1853664;2110775;2170851;2170853 A006J33;D5S454E;G20878;MARC_9990-9991:997195997:1;PMC29339P1;RH104041;SHGC-141489;STS-N35493;TCERG1_3536 CA150;MGC133200;TAF2S;Urn1 OTTHUMP00000160091;OTTHUMP00000223941;OTTHUMP00000241350;TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD;TATA box-binding protein-associated factor 2S;co-activator of 150 kDa;transcription elongation regulator 1;transcription factor CA150 APPROVED protein-coding ENSG00000113649 15630 10393 605409 REVIEWED 1318246 TCF15 transcription factor 15 (basic helix-loop-helix) The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008] 20 20 20 p13 679462 685735 - 532637 538910 - 584637 590910 - 1580863;6480464 8825648;8041747;12477932;11780052;19419955;22145905 6939 A4LBB6;Q12870;Q6NVX3 ABBA01053753;AI218364;AL133231;AMYH01011656;AW290965;BC067836;CH471133;EF506886;NM_004609;U08336 AAA19969;AAH67836;AAI60039;ABO43039;EAX10664;NP_004600;Q12870 Hs.437 2145662;2153517;2218086 STS-U08336;TCF15_2630;WI-7360 EC2;PARAXIS;bHLHa40 OTTHUMP00000029932;TCF-15;basic helix-loop-helix transcription factor 15;class A basic helix-loop-helix protein 40;protein bHLH-EC2;transcription factor 15 APPROVED protein-coding 11627 03003 601010 REVIEWED 1346689 TCERG1L transcription elongation regulator 1-like 10 10 10 q26.3 126561440 126778379 - 132780645 132999974 - 132890655 133109984 - 6480464 14702039;12477932;8889548;21490949;16385451;20379614;20732627;22791750;22412388;22832960 256536 Q5VWI1 ABBA01012980;ABBA01012981;ABBA01012982;AC067746;AK096269;AL390203;AMYH01003189;BC042951;BC093639;BC101535;BM689725;CH471066;NM_174937 AAH42951;AAH93639;AAI01536;EAW49150;NP_777597;Q5VWI1 Hs.126575 1680717;1698644;1707646;1753531;1763499;1771123;5022578 D10S1155;D1S1423;RH102879;RH76735;SHGC-107424;SHGC-147201;SHGC-81985 MGC126584 5730476P14Rik;OTTHUMP00000035700;transcription elongation regulator 1-like protein protein-coding ENSG00000176769 23533 18170 VALIDATED 1602784 TCF24 transcription factor 24 8 8 8 q13.1 63852112 63868245 - 68022627 68040962 - 67858736 67874825 - 14516699;22354994 100129654 Q7RTU0 ABBA01041885;ABBA01041886;AC110998;AMYH01018774;AMYH01018775;AW028708;BK000144;CX788264;NM_001193502 DAA00306;NP_001180431;Q7RTU0 Hs.120040 1699762;2157624 D8S496;RH103487 TCF-24;bHLHa25 transcription factor 24 protein-coding ENSG00000261787 32275 VALIDATED 731955 TCF12 transcription factor 12 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 15 15 q21 54998125 55368008 + 57210833 57580716 + 6480464 11256614;11230166;11076863;10768861;9618760;9584154;9446597;9242638;7842744;1886779;1720355;1501295;1446075;16407974;16169070;8163514;1312219;19043539;18456661;16582099;16381901;16344560;15489336;15351717;15333839;14702039;14516699;12826747;12566462;12477932;11802795;11755530;19730683;20379614;20483740;20211142;23022380;20798984;20603019;21828274;19497860;21139048;22130667;19322201;21150319;21988832;23000965;23354436;9050988;19321746;23386606;23667531 6938 B4DGI9;B4DZP2;B4E1W1;E9PGY0;F5GY10;H0YML2;H0YNP8;H0YNQ5;H3BNF4;H3BRK2;Q99081 ABBA01038994;ABBA01038995;ABBA01038996;ABBA01038997;ABBA01038998;AC010999;AC016525;AC090511;AC090532;AF271609;AF271610;AF271611;AF271612;AF271613;AF271614;AF271615;AF271616;AF271617;AK022018;AK056961;AK294617;AK294991;AK302749;AK302923;AK303028;AK304007;AK308101;AK310708;AK311359;AK311709;AK312710;AL442094;AL831981;AMYH01006677;AU120213;BC050556;BC051769;BK001049;BU178185;BX537967;BX647333;CH471082;M65209;M80627;M83233;NM_003205;NM_207036;NM_207037;NM_207038;NM_207040;U35052 AAA58632;AAB62389;AAC37571;AAF82570;AAF82571;AAF82572;AAF82573;AAF82574;AAF82575;AAF82576;AAF82577;AAF82578;AAH50556;ABZ92191;ACE86985;ACE87674;BAG57800;BAG58057;BAG63962;BAG64087;BAG64154;BAG64923;CAD89914;CAD97931;CAL38450;CAL38596;DAA01129;EAW77511;EAW77512;EAW77513;EAW77514;EAW77515;EAW77516;EAW77517;NP_003196;NP_996919;NP_996920;NP_996921;NP_996923;Q99081 Hs.511504 1336356;1338941;1339137;1655452;1659042;1685532;1691058;1722971;1728141;1729101;1738951;1740559;1755055;1764639;1853735;2108559;2113862;2140988;2152390;2163974;2179448;5014063;5015607;5015961;5016478;5020881;5022200;5022322;5022578;5022637;5022651;5023101;5024756;5037552;5093126 BP250005B10A4;D11S2560;D11S2766;D11S2921;D11S3014;D15S1008;D15S1127;D15S1169;D15S1390;D15S1477;D15S648;D15S854;D1S1423;D8S2279;G10500;G32536;G35309;G60583;G63493;GDB:434012;IGF1R;L17709;L18426;RH44604;RH45193;RH77800;RH80030;RH80646;RH92638;SHGC-141996;SHGC-148229;STS-M78304;TCF12_1072;Tcf12;WI-9143 CRS3;HEB;HTF4;HsT17266;bHLHb20 DNA-binding protein HTF4;E-box-binding protein;OTTHUMP00000162926;OTTHUMP00000162927;TCF-12;class B basic helix-loop-helix protein 20;helix-loop-helix transcription factor 4;transcription factor 12;transcription factor 12 (HTF4, helix-loop-helix transcription factors 4);transcription factor HTF-4 APPROVED protein-coding ENSG00000140262 11623 02725 600480;615314 REVIEWED 1606698 TCF23 transcription factor 23 The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010] 2 2 2 p23.3 27218248 27222122 + 27225506 27229239 + 27371945 27375819 + 6480464 14516699;11701948;10652346;12477932 150921 Q7RTU1 ABBA01045195;AC013403;AMYH01010195;BC137191;BC137192;BC144525;BK000143;CH471053;NM_175769 AAI37192;AAI37193;DAA00305;EAX00624;NP_786951;Q7RTU1 Hs.591583 OUT;TCF-23;bHLHa24 OTTHUMP00000201039;class A basic helix-loop-helix protein 24;class II basic helix-loop-helix protein TCF23;transcription factor 23 APPROVED protein-coding 18602 18734 609635 REVIEWED 1345711 TCF19 transcription factor 19 6 6 6 p21.3 32726529 32732214 + 31234282 31239971 + 31126303 31131992 + 1304482;6480464 1868030 16702430;16344560;15489334;15342556;14574404;12477932;10777095;8595903;20587610;10485890;19851445;20211142;21076979;21832049;21900206;21912425 6941 D2IYK5;H0YFN0;Q5STF5 AB029516;AB029517;AB029518;AB029519;AB088113;AB103619;AB202105;ABBA01038069;AK315258;AL662833;AL662844;AL773544;AMYH01016209;BA000025;BC002493;BC033086;BC044632;BP365938;BT007247;BX088580;BX647174;CH471081;CR388229;CR753819;CR759815;CR847794;DA115077;DA116232;DA485961;DB260358;NM_001077511;NM_007109;S53374;U25826 AAB19475;AAB60363;AAH02493;AAH33086;AAH44632;AAP35911;ABM86768;ABW03827;BAA82324;BAA82325;BAA82326;BAA82327;BAB63312;BAC54945;BAE78629;BAF31280;EAX03363;EAX03364;EAX03365;NP_001070979;NP_009040;Q9Y242 Hs.584807 1662312;1722215;2115315;2125829;2137171;2166842 G60011;RH36318;RH46726;RH68003;SHGC-12693;STS-U25826 SC1;SC1-1 OTTHUMP00000029412;OTTHUMP00000029413;SC1(TCF19)-6;SC1(TCF19)-7;SCI(TCF19)-4;TCF-19;transcription factor 19;transcription factor SC1 protein-coding ENSG00000137310 11629 15986 600912 VALIDATED 69146 TCF20 transcription factor 20 (AR1) This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 22 22 q13.3 40885963 40941389 - 42556019 42611445 - 1580863;6480464 19602701;19720844;20161779;20490451;20509872;10995766;19082521;18984664;18701471;18591388;17913746;17081983;15831449;15592455;15302935;12477932;10849425;10591208;9730594;9179496;8663478;7760812;20564319;20816152;20936779;20211142;22081970;22586326;21693764;21890473;21935435;19471022;23000965;8889548 6942 A9JX13;I3L1M7;Q9UGU0 AB006630;ABBA01055665;ABBA01055666;ABBA01055667;AL021878;AL031346;AMYH01012811;AMYH01012812;AY007595;BC013180;BU732753;BX247885;CH471095;NG_028982;NM_005650;NM_181492;U19345 AAC36392;AAG28930;AAI56503;AAI72542;BAA22961;EAW60495;EAW60496;EAW60497;EAW60498;NP_005641;NP_852469;Q9UGU0 Hs.475018 1645189;1753821;1850660;2167661;2184093 RH47217;RH66208;RH69793;SHGC-32817;SHGC-89209 AR1;KIAA0292;SPBP;TCF-20 OTTHUMP00000198708;OTTHUMP00000198709;OTTHUMP00000198710;SPRE-binding protein;TCF-20;nuclear factor SPBP;stromelysin 1 PDGF-responsive element-binding protein;stromelysin-1 PDGF-responsive element-binding protein;stromelysin-1 platelet-derived growth factor-responsive element binding protein;transcription factor 20 APPROVED protein-coding ENSG00000100207 11631 04378 603107 REVIEWED 6481054 TCF7L1-IT1 TCF7L1 intronic transcript 1 (non-protein coding) 100874334 AC011236 miscrna 41388 1351290 TCF3 transcription factor 3 This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011] 19 19 p13.3 1560293 1601277 - 1609289 1652328 - 1580863;6480464 10567574;10545951;2105528;10958665;2493990;12435739;19299559;19125693;18727914;18455790;18390709;17311319;17272506;17183364;16814783;16782810;16769578;16705184;16546275;16449526;16215946;16206189;16055439;16007194;15934135;15555546;15509787;15507449;15351717;15333839;15310760;15280352;15242870;15138269;15070701;15057824;15044608;14627819;14592976;14536079;12700034;12566462;12477932;12217327;12200424;12107263;11994467;11812799;11802795;11784080;11591653;11238923;11237058;10924525;10866689;10781029;10768861;10757985;10749989;10636926;10471746;10086727;9742120;9624159;9584154;9582372;9525934;9507011;9242638;9235903;9214632;9209374;9199284;9184158;9073453;9001211;8999959;8948587;8918463;8900141;8759016;8628307;8617811;8432525;8164688;8159721;8152805;10502414;10497239;8001125;7935390;7933101;7623842;7568177;2799390;2503252;2385294;2308859;2163343;2112746;1967983;1967982;1818757;1720355;1671560;1649701;1446075;1386162;1325437;16407974;12878195;9013644;21285352;20519628;10915743;11509675;11940670;15030778;15327769;16043483;16428437;17426122;19801649;20022378;20050020;20217071;9418854;15923648;20211142;19308989;22972921;16252006;19074834;20802470;14752053;21212793;23063976;9050988;19323994;10775504;12107413;18185522;21498546;12493738;17250953;20603019;21258409;21534874;21551245;21788410;21828274;21832153;21869488;21655267;17721549;22544934;22564737;23090119;20714342;15456869;19497860;21119685;21532573;22354994;19322201;22514271;22743623;21988832;22207202;22387215;23000965;22829926;23044487;18611861;19362560;23085504 6929 K7EJN4;K7EK65;K7EKB9;K7ELF3;K7EMM4;K7ENH8;K7ENI0;K7EPH6;K7EPS2;K7ERZ7;P15923;Q2TB39 ABBA01002664;ABBA01002665;AC005321;AC006274;AK024806;AK310998;AMYH01009256;AMYH01009257;AW028755;BC005166;BC011665;BC014680;BC110580;BG284440;BU528547;CD516687;CD674814;CH471139;HI179080;M24404;M24405;M31222;M31523;M65214;NG_029953;NM_001136139;NM_003200;X52078 AAA52331;AAA56829;AAA56830;AAA61146;AAC27373;AAC41693;AAC99797;AAH11665;AAI10581;CAA36297;CBX53848;EAW69467;EAW69468;EAW69469;EAW69470;EAW69471;EAW69472;NP_001129611;NP_003191;P15923 Hs.371282;Hs.657044 1661766;2129640;2171988;2175275;2184703;2218618 G15946;G29322;RH12886;STS-M65214;TCF3_4169;WI-18183 E2A;E47;ITF1;MGC129647;MGC129648;TCF-3;VDIR;bHLHb21 E2A immunoglobulin enhancer-binding factor E12/E47;TCF-3;VDR interacting repressor;class B basic helix-loop-helix protein 21;helix-loop-helix protein HE47;immunoglobulin enhancer-binding factor E12/E47;immunoglobulin transcription factor 1;kappa-E2-binding factor;negative vitamin D response element-binding protein;transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47);transcription factor E2-alpha;transcription factor ITF-1;vitamin D receptor-interacting repressor APPROVED protein-coding ENSG00000071564 11633 00918 147141 REVIEWED 1351692 TCF21 transcription factor 21 TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q23-q24 134251970 134258368 + 134210259 134216675 + 1580863;6480464 9507058;18978678;16415157;15489334;15231748;14702039;14574404;12493738;12477932;11591653;10572052;9733105;9545526;8889548;7553065;16169070;20634891;20211142;21378990;20945327;22862160;21771727;22751097 6943 O43680 ABBA01025867;AF035718;AF047419;AK091844;AL356109;AL550251;AMYH01016684;BC025697;BT019660;BU688835;CF128914;CH471051;CR450293;NG_032121;NM_003206;NM_198392;W73859 AAC62514;AAC62532;AAH25697;AAV38466;ABW03324;ABW03673;CAG29289;EAW47999;EAW48000;EAW48001;NP_003197;NP_938206;O43680 Hs.78061 1798258;2145364;2167052;2167322 D6S2117;D6S2181;TCF21_2018;WI-11855 POD1;bHLHa23 OTTHUMP00000017238;OTTHUMP00000017239;TCF-21;capsulin;class A basic helix-loop-helix protein 23;epicardin;pod-1;podocyte-expressed 1;transcription factor 21 APPROVED protein-coding ENSG00000118526 11632 04493 603306 REVIEWED 1602223 TCF25 transcription factor 25 (basic helix-loop-helix) TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008] 16 16 16 q24.3 75005365 75042884 + 88467521 88505287 + 89939994 89977792 + 6480464 16574069;18068114;16189514;15489334;14702039;12477932;12107429;10470851;19060904;19851296;20198315;18029348;18781797;21900206;21139048;21890473;21906983;21963094 22980 H3BMJ8;H3BPU1;H3BQ53;H3BR53;H3BRP4;H3BS87;H3BSP8;H3BSS3;H3BTU3;Q9BQ70;Q9H384 AB028972;ABBA01014123;ABBA01014124;ABBA01014125;AC092143;AC092385;AF130092;AF322111;AK024679;AK095785;AK301053;AMYH01007940;AMYH01007941;BC000959;BC009349;BC011884;BI913551;CH471184;DQ321703;NM_014972 AAG35518;AAG50276;AAH00959;AAH09349;AAH11884;ABC55265;ABZ92138;BAA83001;BAB14959;BAG62664;EAW66677;EAW66678;EAW66679;NP_055787;Q9BQ70 Hs.415342 1675507;5017939;5491920 MARC_52622-52623:1146767377:1;MARC_52624-52625:1146768114:1;RH80305 FKSG26;Hulp1;KIAA1049;NULP1;PRO2620;hKIAA1049 NULP1;OTTHUMP00000176847;TCF-25;nuclear localized protein 1;transcription factor 25 APPROVED protein-coding ENSG00000141002 29181 13830 612326 VALIDATED 1314197 TCF7 transcription factor 7 (T-cell specific, HMG-box) The protein encoded by this gene is a transcriptional activator that plays an important role in lymphocyte differentiation. This gene is expressed predominantly in T-cells. The encoded protein can bind an enhancer element and activate the CD3E gene, and it also may repress the CTNNB1 and TCF7L2 genes through a feedback mechanism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 q31.1 133478301 133511819 + 133450402 133483920 + 2301908;6480464;6907045 10528152 21285352;9783587;19479237;19453261;19263529;19131662;19028820;18974840;16424171;16344560;15778344;14960582;14702039;12847244;12765974;12477932;12408869;11266540;10489374;9488439;8622675;7640309;7579399;1989880;1569101;21447180;18579517;19913121;20536507;20603037;20613673;20628086;18772112;19559392;19956102;20416077;20211142;20844743;19304756;21339363;22550000;22535304;22111711;21833088;21881822;22505724;22778133 6932 B7WNT5;D4PHA3;E5RG34;E5RG75;E5RGJ5;E5RGQ1;E5RHL1;E5RJ51;H0YAR8;H0YBC8;H0YBM1;H0YBP2;P36402 ABBA01068766;ABBA01068767;AC008608;AC011336;AF163776;AK057580;AK093530;AK093683;AK131428;AK310591;AL832816;AL834166;AMYH01015622;BC048769;BC072023;CH471062;DA627229;DB127975;DB137814;DB145426;GN344127;GN344129;GN344131;GN344133;HI179100;HI179102;HI179104;HI179106;HI179108;NG_030367;NM_001134851;NM_003202;NM_201632;NM_201634;NM_213648;NR_033449;X59869;X59870;X59871;X63901;Z47361;Z47362;Z47363;Z47364 AAF00616;AAH48769;AAH72023;ABZ92190;BAG51937;BAG52735;BAG52748;CAA42526;CAA42527;CAA42528;CAA87439;CAA87440;CAA87441;CAA87442;CAB56795;CAY55999;CAY56000;CAY56001;CAY56002;CBX53858;CBX53859;CBX53860;CBX53861;CBX53862;EAW62277;EAW62278;EAW62279;EAW62280;NP_001128323;NP_003193;NP_963963;NP_963965;NP_998813;P36402 Hs.573153 1667450;1791800;1792596;1796908;2137543;5094711 PMC126018P1;PMC154232P3;SGC35447;SGC35448;TCF7_1076;Tcf7 FLJ36364;MGC47735;TCF-1 OTTHUMP00000159389;OTTHUMP00000159390;OTTHUMP00000159391;OTTHUMP00000227347;OTTHUMP00000227348;OTTHUMP00000227349;T-cell-specific transcription factor 1;transcription factor 7;transcription factor-7, T-cell specific APPROVED protein-coding ENSG00000081059 11639 01797 189908 REVIEWED 1348705 TCFL5 transcription factor-like 5 (basic helix-loop-helix) 20 20 20 q13.3-qter 58148498 58169147 - 60942912 60963560 - 61472467 61493115 - 1580863;6480464 9763657;12923186;12477932;11780052;11306602;17006541;22360420;23251661 10732 F8W9A4;Q86TP4;Q9UL49 AB012124;ABBA01021373;AF070992;AJ271337;AL035669;AMYH01012064;BC046933;BC065520;CH471077;NM_006602;XM_003960788 AAD53986;AAH46933;BAA36557;CAC24700;EAW75329;EAW75330;EAW75331;NP_006593;Q9UL49;XP_003960837 Hs.126248 1675231;1676228;1678109;1682427;1682567;1688835;1698988;2181646;5015619;5015861;5016851;5037552;5491858;7185938 D10S16;D11S3114;D8S2279;RH103064;RH16374;RH36237;RH38988;RH64147;RH66084;RH80031;SHGC-34346;SHGC-35186;TCFL5 CHA;E2BP-1;Figlb;MGC46135;bHLHe82 HPV-16 E2 binding protein 1;HPV-16 E2-binding protein 1;OTTHUMP00000031511;cha transcription factor;transcription factor-like 5 protein protein-coding ENSG00000101190 11646 05297 604745 VALIDATED 1323251 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010] 2 2 p11.2 85214245 85391016 + 85360583 85537511 + 1578492;1580863;2301908;6480464;6907045 9488439;10528152 1741298;11085512;19308021;15815621;15489334;12477932;11266540;9916915;11136974;20532534;16565489;17234346;17873379;18258400;19301967;19373426;19906297;19304756;20379614;11238923;22930747;22505724 83439 C9JPE3;Q9HCS4 AB031046;ABBA01075740;ABBA01075741;ABBA01075742;ABBA01075743;ABBA01075744;ABBA01075745;AC011236;AC093162;AMYH01010494;BC058894;BF434361;CH471053;NM_031283;X62870 AAH58894;AAY15068;AAY24094;BAB18185;CAB91064;EAW99542;NP_112573;Q9HCS4 Hs.516297 1298201;1658932;1699490;1702726;1721365;1762551;1763095;1764535;1772292;1794438;1798260;2122119;2135441;2171330 A006A34;D2S2333;D2S2755;D2S2793;DXS7905;G59683;PMC31284P1;RH103338;RH45456;RH45510;SHGC-146364;SHGC-146832;SHGC-148128;TCF7L1_2208 TCF-3;TCF3 HMG box transcription factor 3;HMG-box transcription factor TCF-3;OTTHUMP00000160497;transcription factor 7-like 1 APPROVED protein-coding ENSG00000152284 11640 06874 604652 REVIEWED 732921 TCF4 transcription factor 4 This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Aug 2011] 18 18 q21.1 51040560 51406858 - 52889562 53303188 - 1580863;6480464;7240710 17478476;11500377;22258766;9824680;10903890;2105528;1681116;19635457;19571808;19453261;19394332;19235238;18854153;18792017;18635522;18627065;18371301;18222743;17436255;17436254;16126178;15489334;15351717;15333839;14702039;12477932;11784080;11756408;11591653;11266605;10757985;9668116;9618760;9584154;9302263;9242638;8999959;8978694;8576241;2308860;15331612;12657632;11713476;11713475;16407974;22451930;12727872;15831457;19563778;20141612;22155184;22766303;21789225;21599871;20421335;20673877;20205897;11802795;19571811;19938247;20379614;20211142;21037240;16714285;22460224;20825314;19074834;16344560;20603019;21543597;20603605;20585880;21441570;17412698;21228604;23029137;21245398;20126258;21533127;22805760;23165966;23295773;21659310;21720709;21900206;21671075;21812098;21983179;12944908;16007074;16724116;18281465;22022540;21282610;21722264;21791550;23185296;22016394;22146553;23772552;23894747;21764279;22234156;22821403;22045651;22156527;17050667;17410209;22232078;21926974;22231735;12417018;17914096;22383159;16630820;22080605;22688191;22934316;21988832;22777675;23000965;23110055;16230076;23306204;23224985;23453885;15525529;22832956;22674979;22699938;23030478;15684397;17072306;19778269 6925 B3KVA4;B7Z6Y1;E9PH57;G0LNT4;G0LNT7;H3BMC8;H3BME8;H3BML7;H3BNI2;H3BNZ2;H3BP59;H3BPG3;H3BPJ7;H3BRF7;H3BSX3;H3BT24;H3BT95;H3BTC3;H3BTM9;H3BTP3;H3BTZ0;H3BUQ3;K7ERJ0;K7ESI6;Q08AP2 AB209741;ABBA01056110;ABBA01056111;ABBA01056112;ABBA01056113;ABBA01056114;ABBA01056115;ABBA01056116;AC013587;AC018994;AC090383;AC090684;AC091103;AK021980;AK026674;AK095041;AK095066;AK096862;AK122765;AK299169;AK300038;AK300612;AK300636;AK301144;AK315074;AK316165;AL518903;AMYH01009017;AMYH01009018;AMYH01009019;BC031056;BC125084;BC125085;BJ989626;CH471096;DB047766;DB451911;DC298029;FR748205;FR748206;FR748207;FR748208;FR748209;FR748210;FR748211;FR748212;FR748213;FR748214;FR748215;FR748216;FR748217;FR748218;FR748219;FR748220;FR748221;FR748222;FR748223;M74718;M74719;NG_011716;NM_001083962;NM_001243226;NM_001243227;NM_001243228;NM_001243230;NM_001243231;NM_001243232;NM_001243233;NM_001243234;NM_001243235;NM_001243236;NM_003199;U75701;X52079 AAA60310;AAA60311;AAC51824;AAI25085;AAI25086;BAD92978;BAG52974;BAG53382;BAG53716;BAG61849;BAG62325;BAH12962;BAH13314;BAH13417;BAH14536;CAA36298;CBY80184;CBY80185;CBY80186;CBY80187;CBY80188;CBY80189;CBY80190;CBY80191;CBY80192;CBY80193;CBY80194;CBY80195;CBY80196;CBY80197;CBY80198;CBY80199;CBY80200;CBY80201;CBY80202;EAW63017;EAW63018;EAW63019;EAW63020;EAW63021;EAW63022;EAW63023;EAW63024;NP_001077431;NP_001230155;NP_001230156;NP_001230157;NP_001230159;NP_001230160;NP_001230161;NP_001230162;NP_001230163;NP_001230164;NP_001230165;NP_003190;P15884 Hs.605153 1334577;1341362;1657829;1660367;1664175;1685700;1699412;1709340;1710848;1716681;1730413;1763371;1768693;1777028;1795094;1856696;2125364;2163372;2173825;2179020;2180708;2181634;2182253;7184713 AFM357td5;D18S1030;D18S1119;D18S1295;D18S1309;D18S35;D18S76E;D18S837;L29703;PMC97633P1;RH103297;RH121599;RH12446;RH12470;RH70760;RH92749;SGC30723;SHGC-147092;SHGC-57835;SHGC-64012;SHGC-81668;SHGC-84194;WI-21824 E2-2;ITF-2;ITF2;MGC149723;MGC149724;PTHS;SEF-2;SEF2;SEF2-1;SEF2-1A;SEF2-1B;TCF-4;bHLHb19 ITF-2;OTTHUMP00000163567;OTTHUMP00000163568;SEF-2;SL3-3 enhancer factor 2;TCF-4;class B basic helix-loop-helix protein 19;immunoglobulin transcription factor 2;transcription factor 4;transcription factor 4, isoform B+;transcription factor 4, isoform B-;transcription factor 4, isoform D;transcription factor 4, isoform E;transcription factor 4, isoform R APPROVED protein-coding ENSG00000196628 11634 03780 125853;602272;610954 REVIEWED 1320079 TCHH trichohyalin Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009] 1 1 q21.3 150345417 150353180 - 152078793 152086556 - 1580863;6480464 7686953;7685034;18643848;17081983;12477932;8423399;1431214;17353931;20585627;12853460;19896111;20722389;18029348 7062 Q07283;Q5D861 ABBA01049410;AL589986;AMYH01001395;AY827491;BC131826;BC131827;L09190;NM_007113;S63672 AAA65582;AAB27489;AAI31827;AAI31828;AAX12418;NP_009044;Q07283 Hs.432416;Hs.553300 1653680;1852450;2180111 D1S2399;RH17609;RH69475 MGC157889;MGC157890;THH;THL;TRHY OTTHUMP00000015268;trichohyalin APPROVED protein-coding ENSG00000159450 11791 190370 VALIDATED 1349828 TCL4 T-cell leukemia/lymphoma 4 3194416;2189107 6946 11650 186860 1605587 TCHHL1 trichohyalin-like 1 This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013] 1 1 1 q21.3 125171284 125176204 - 150323244 150328164 - 152056620 152061540 - 20585627;12477932;22939629;21614011 126637 Q5QJ38 ABBA01049409;AL591893;AMYH01001395;AY456639;BC137493;CH471121;CS673536;CS690919;FB665672;GM706884;NM_001008536 AAI37494;AAS13485;CAP07535;CAP11503;CAR97118;CAT82390;EAW53391;NP_001008536;Q5QJ38 Hs.546477 2176719 AL009569 S100A17;THHL1;basalin OTTHUMP00000015255;S100 calcium binding protein A17;S100 calcium-binding protein A17;basalin;intermediate filament-associated protein;trichohyalin-like protein 1 protein-coding ENSG00000182898 31796 18179 REVIEWED 1317786 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010] 10 10 q25.3 114700201 114916063 + 114710009 114927437 + 1580863;2312454;2312455;2312453;2312417;2301908;2312433;6480464;6907045;7240710;6906926 19386626;18984664;19482368;19585101;10528152;19509102;19506043 17983804;10919662;12556497;14661054;15684397;16385451;17072306;17873903;17972059;18193033;18772112;19156536;19401414;19573884;19602480;19713311;19718565;19720844;19732438;19734900;19741467;19760027;19789636;19794065;19806338;19808892;19825152;19833889;19864407;19876004;19895682;18461161;18445358;18443202;18439914;18437354;18398040;18397358;18372903;18347071;18342627;18310307;18302196;18291022;18288125;18282631;18268068;18268006;18264689;18257044;18248681;18239663;18203713;18166673;18097733;18072015;18048388;18039847;9065401;16714285;15525634;9727977;16007074;18071026;15578569;12408868;10937998;18216022;15853773;19643578;19636253;19615048;19602701;19592620;19533015;19502414;19497595;19473183;19380854;19368707;19351735;19324937;19288077;19286335;19279076;19267370;19258437;19258404;19252133;19247628;19247372;19228405;19225753;19221600;19211816;19183934;19172244;19169495;19168596;19149908;19141698;19141695;19139842;19105201;19082521;19057525;19056611;19055834;19053027;19050058;19033397;19020324;19020323;19012045;19002430;18996470;18992263;18972257;18958766;18931037;18853134;18839133;18823720;18806947;18781613;18762805;18755497;18719881;18712344;18706099;18702948;18694974;18689695;18655717;18650481;18621708;18611970;18599616;18598350;18597214;18591388;18555673;18546086;18541996;18519685;18516622;18498634;18493736;18478343;18469204;19924244;19933996;19934000;19948975;20028944;20032493;20033802;20041287;20043145;20054294;20075150;20081857;20081858;20092643;20095040;20097709;20107109;20118932;20122174;20142250;20161779;20185807;20203524;20215779;20299486;20361036;20379614;17093941;17093940;17091236;17065361;17063324;17052462;17031610;17020404;17003360;17003358;16950124;16936218;16936217;16936216;16936215;16855264;16724116;16690926;16569639;16547505;16532032;16415884;16344560;16311123;16306047;16291872;16204248;15905022;15806138;15670774;15591320;15514942;15489334;15331612;15040893;12861022;12799378;12727872;12477932;12446687;12378619;12368361;12086873;11980438;11940574;11931652;11739494;11713476;11713475;11711551;11528255;11504726;11266540;17934151;17909099;17901222;17875931;17805508;17768662;17725629;17709525;17697858;17683561;17671651;17668382;17665514;17661009;17659738;17653210;17618413;17609304;17601994;17593304;17579832;17579206;17563454;17554300;17540954;17519421;17503332;17476472;17470138;17463249;17463248;17463246;17460697;17456004;17437080;17429603;17416797;17392368;17977958;17971425;17351281;17342473;17340123;17317761;17311858;17293876;17283121;17259383;17245589;17245407;17226113;17181866;17143297;17130514;17109766;10828605;10694436;10080941;9916915;8125298;1741298;15525529;15377999;15294866;21301999;22712642;17072303;21109996;21383188;19913121;20550665;20571754;20578204;20597906;20602615;20616309;20628086;20648057;20654575;20682688;20798759;20802253;19304756;20581827;20694148;20384434;20424228;20437825;20478041;20485196;20490451;20503258;20540670;20546291;20459822;20508220;20712903;20816152;20849430;20879858;20889853;20923526;20929593;20957343;20967696;20980453;20532534;20640398;20873210;20878273;9065402;21678030;22318606;22693455;22296403;12711682;22443257;22524208;22583123;22916254;22923468;22942101;23010200;23086040;12408825;16434966;17122440;21150882;18799618;18992165;19563778;19679347;19924301;20219685;20372961;20705583;20739273;21285352;21388956;21436631;21441570;21454679;21347282;21115178;19885641;21159844;21256126;23144361;22591707;21423583;21595284;21357677;21707949;19124064;19131553;19269971;19443654;20027603;20696899;21292023;21414605;21814547;23544013;21636708;21772333;22441719;21673050;21384500;21510814;21892161;21857094;22581228;22951069;23050589;23107111;22885420;22552033;21693764;21855162;21906983;21913056;21921652;22136959;22109281;22487833;22355027;21543200;21641671;21873549;21956205;22101970;22109522;22245614;22247771;22275441;22318732;19322201;22301903;22558147;21670201;22862926;23188737;23142382;23193183;23014255;22945304;23011354;21988832;23311683;23558246;23085767;23209189;23300278;22967502;22480428;22505724;22768190;23041303;23349771;22782288;22911383;23034957 6934 B4DRJ8;B9X074;C6ZRJ7;C6ZRJ8;C6ZRJ9;C6ZRK0;C6ZRK1;C6ZRK2;C6ZRK5;E2GH20;H0YEE5;Q5JRY3;Q5JRY4;Q5JRY5;Q5VVR5;Q5VVR7;Q5VVR8;Q6FHW4;Q9NQB5 AB034691;AB440195;AB451266;ABBA01062997;ABBA01062998;ABBA01062999;ABBA01063000;ABBA01063001;ABBA01063002;AJ270770;AK074705;AK225809;AK296305;AK299295;AK301483;AK303684;AK315243;AK316111;AL135792;AL158212;AL445486;AL451084;AMYH01003077;AMYH01003078;AMYH01003079;BC032656;BX648364;CH471066;CR536574;DA473655;FJ010164;FJ010165;FJ010166;FJ010167;FJ010168;FJ010169;FJ010170;FJ010171;FJ010172;FJ010173;FJ010174;HM352838;HM352839;HM352840;HM352841;HM352842;HM352843;HM352844;HM352845;HM352846;HM352847;HM352848;HM352849;HM352850;HM352851;NG_012631;NM_001146274;NM_001146283;NM_001146284;NM_001146285;NM_001146286;NM_001198525;NM_001198526;NM_001198527;NM_001198528;NM_001198529;NM_001198530;NM_001198531;NM_030756;Y11306 AAH32656;ACI28522;ACI28523;ACI28524;ACI28525;ACI28526;ACI28527;ACI28528;ACI28529;ACI28530;ACI28531;ACI28532;ADK35174;ADK35175;ADK35176;ADK35177;ADK35178;ADK35179;ADK35180;ADK35181;ADK35182;ADK35183;ADK35184;ADK35185;ADK35186;ADK35187;BAA86225;BAG51988;BAG59004;BAG61310;BAG62997;BAG64677;BAG70080;BAH14482;BAH24004;CAA72166;CAB97212;CAB97213;CAB97214;CAB97215;CAB97216;CAB97217;CAB97218;CAB97219;CAG38811;EAW49506;EAW49507;EAW49508;EAW49509;EAW49510;EAW49511;EAW49512;EAW49513;EAW49514;EAW49515;EAW49516;EAW49517;NP_001139746;NP_001139755;NP_001139756;NP_001139757;NP_001139758;NP_001185454;NP_001185455;NP_001185456;NP_001185457;NP_001185458;NP_001185459;NP_001185460;NP_110383;Q9NQB0 Hs.593995 1335006;1650613;1670437;1694700;1698008;1750351;1757537;1851280;2127383;2127882;2141604;2153025;2154444;2170483;2173589;2175051;2175053;2178822;7185553 A006F09;D10S1597;D10S168;D10S2296;G20756;G43540;RH102533;RH11324;RH48450;RH66532;SHGC-112532;SHGC-144967;SHGC-33545;SHGC-58284;SHGC-6704;STS-T81462;STS-T97004;WI-20234 TCF-4;TCF4 HMG box transcription factor 4;OTTHUMP00000020496;T-cell factor 4;T-cell factor-4 variant A;T-cell factor-4 variant B;T-cell factor-4 variant C;T-cell factor-4 variant D;T-cell factor-4 variant E;T-cell factor-4 variant F;T-cell factor-4 variant G;T-cell factor-4 variant H;T-cell factor-4 variant I;T-cell factor-4 variant J;T-cell factor-4 variant K;T-cell factor-4 variant L;T-cell factor-4 variant M;T-cell factor-4 variant X2;T-cell-specific transcription factor 4;hTCF-4;transcription factor 7-like 2 APPROVED protein-coding ENSG00000148737 11641 03751 125853;602228 REVIEWED 1604269 TCHP trichoplein, keratin filament binding 12 12 12 q24.11 109962427 109980222 + 108822706 108840251 + 110338079 110355874 + 6480464 21145461;15731013;16189514;15731018;15731017;15731016;15731015;15731014;14702039;12477932;18931701;20930847;21325031;18029348;23319000 84260 F5GWH6;F8W0K4;Q9BT92 ABBA01005081;AC084876;AK000079;AK092736;AK301262;AMYH01004738;AY007230;AY210413;BC004285;BC022838;BX648596;CH471054;CS673586;CS690969;FB665722;GM706934;NM_001143852;NM_032300 AAG12971;AAH04285;ABW03552;ABW03857;BAC03960;BAG62828;CAP07553;CAP11522;CAR97137;CAT82435;EAW97883;EAW97884;NP_001137324;NP_115676;Q9BT92 Hs.410924 2181500 STS-R42792 MGC10854;TpMs OTTHUMP00000240671;OTTHUMP00000240672;OTTHUMP00000240673;mitochondrial protein with oncostatic activity;mitostatin;trichoplein keratin filament-binding protein;tumor suppressor protein protein-coding ENSG00000139437 28135 14403 612654 VALIDATED 1346019 TCL1B T-cell leukemia/lymphoma 1B 14 14 14 q32.1 76208508 76214717 + 95222516 95228720 + 96152754 96158980 + 1580863;6480464 10983986;14702039;12477932;11707444;11607815;10851082;10344735;10077617;16169070;20800603;20228224;21832049;19229105 9623 O95988;Q9NPF3 AB018563;AB025274;ABBA01048600;AF110465;AF110466;AF137027;AI250350;AL133467;AMYH01005975;BC041616;BC051000;BQ058954;CH471061;CR457087;NM_004918 AAD16996;AAD16997;AAD30130;AAH41616;AAH51000;BAA76712;BAA82476;CAG33368;EAW81619;EAW81620;NP_004909;O95988 Hs.632346 1796912 TCL1B_1081 SYN-1;TML1 OTTHUMP00000195765;SYN-1;T-cell leukemia/lymphoma protein 1B;T-cell lymphoma/leukemia 1B;TCL1/ MTCP1-like 1;TCL1/MTCP1-like protein 1;oncogene TCL-1B;oncogene TCL1B;syncytiotrophoblast-specific protein protein-coding ENSG00000213231 11649 04795 603769 VALIDATED 1603702 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008] 11 11 q13.2 67563059 67574942 + 67806462 67818366 + 6480464;6907045;7240710 12813892;8579597;9806637;15800125;10329006;19453261;19371798;19172990;18715141;18270567;17082597;15809087;15300850;14597263;14584882;14580332;14523594;12788495;12566520;12552563;12477932;12161516;12054167;11836511;11532986;10942435;10888887;10440860;10340843;10224039;10221984;9442887;9210392;20424301;19507210;20525692;20877624;17662945;2874839;21042819;22939629;21987572;21139048;21906983;22318606;21963094;21988832;23288846;22231430 10312 E9PM12;E9PMC5;E9PNA6;H0YCE3;H0YEL3;Q13488;Q8TCH1 AA625923;ABBA01024019;AF025374;AF033033;AF497545;AMYH01003754;AMYH01003755;AP002807;AW083897;AY548967;AY548968;AY548969;AY548970;AY548971;AY708388;AY708389;AY708390;AY708391;BC018133;BC032465;BX388184;CH471076;NG_007878;NM_006019;NM_006053;U45285 AAA97878;AAC35742;AAD31081;AAH18133;AAH32465;AAM18704;AAS59834;AAS59835;AAS59836;AAS59837;AAS59838;AAU20795;ABW03394;EAW74689;EAW74690;EAW74691;EAW74692;NP_006010;NP_006044;Q13488 Hs.495985 1766095;2116414;2191705 MARC_5391-5392:996690342:1;RH70640;SHGC-149479 ATP6N1C;ATP6V0A3;Atp6i;OC-116kDa;OC116;OPTB1;Stv1;TIRC7;Vph1;a3 ATPase, H+ transporting, 116kD;OC-116 kDa;OTTHUMP00000235794;OTTHUMP00000235863;T cell immune response cDNA7 protein;T-cell immune regulator 1;T-cell immune response cDNA 7;T-cell immune response cDNA7 protein;T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3;T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a;V-ATPase 116 kDa;V-ATPase 116-kDa;V-type proton ATPase 116 kDa subunit a;V-type proton ATPase 116 kDa subunit a isoform 3;osteoclastic proton pump 116 kDa subunit;specific 116-kDa vacuolar proton pump subunit;vacuolar proton translocating ATPase 116 kDa subunit A APPROVED protein-coding ENSG00000110719 11647 05207 259700;604592 REVIEWED 1318064 TCL1A T-cell leukemia/lymphoma 1A Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010] 14 14 q32.1 95246057 95250286 - 96176304 96180533 - 1580863;6480464 11707444;7809072;19155496;19064921;18820675;18546844;17890451;17846228;17659340;17625607;17592280;17548807;17360849;17178851;17151114;16189514;16002684;15489334;15459205;15325703;12672960;12576313;12477932;12421830;12381789;12127395;12009899;11607815;10983986;10077617;22645177;9738977;9519406;7987816;2783489;20382409;19480937;19536169;19668332;19776126;19889012;20357824;20379614;20395523;20553335;9520462;21172079;20876420;16934922;21130495;22001392;22065599;23160471;22448662;22308499;22189846;22553924;22405131;22460735;22674796 8115 G3V4T4;H0YJR9;P56279 ABBA01048600;AL139020;AMYH01005976;BC003574;BC005831;BC009502;BC009891;BC014024;BG718395;BU602054;CH471061;CR456796;NM_001098725;NM_021966;NR_049726;X82240;X82241 AAH03574;AAH05831;AAH14024;ABM83426;ABM86639;CAA57708;CAG33077;EAW81622;EAW81623;NP_001092195;NP_068801;P56279 Hs.2484 1783028;1783068;1796910;2184148;2185715;5117626 GDB:593221;RH44550;SGC35414;SHGC-142631;SHGC-153944;TCL1A_1080 TCL1 OTTHUMP00000245945;OTTHUMP00000245946;OTTHUMP00000245951;T-cell leukemia/lymphoma protein 1A;T-cell lymphoma-1;T-cell lymphoma-1A;oncogene TCL-1;oncogene TCL1;protein p14 TCL1 APPROVED protein-coding ENSG00000100721 11648 01744 186960 VALIDATED 1344014 TCL6 T-cell leukemia/lymphoma 6 (non-protein coding) 14 14 14 q32.1 76173267 76195533 + 95187268 95215923 + 96117515 96139789 + 15489334;12477932;10851082;10588720;14702039;20031603;11710897 27004 Q9P2S1 AB035332;AB035333;AB035334;AB035335;AB035337;AB035338;AB035339;AB035346;ABBA01048601;AF195820;AF195821;AK023714;AL133467;AMYH01005975;BC041075;BX161462;CH471061;NR_028288 AAF07203;AAF07204;AAH41075;BAA96371;BAA96372;BAA96373;BAA96374;BAA96375;BAA96376;CAD61923;EAW81609;EAW81610;EAW81611;EAW81612;EAW81613;EAW81614;EAW81615;EAW81616;EAW81617;EAW81618 Hs.510368;Hs.732224 1653563;1667345;1684952;1796914;1856625;2113662;2117645;5093260 A009K21;AB072793;G32614;RH45107;RH45537;RH77821;RH98896;TCL6_1280 FLJ13652;TCL6e1;TCL6f1;TCL6f2;TNG1;TNG2 APPROVED miscrna ENSG00000187621 13463 05104 604412 PREDICTED 1343977 TCP10L2 t-complex 10-like 2 6 6 q27 167504071 167530525 + 167584081 167596396 + 6480464 401285 B9ZVM9;F5GYV4;J3QSS5 ABBA01033434;AL121935;AMYH01016853;AMYH01016854;AMYH01016855;CH471051;NM_001145121 B9ZVM9;EAW47503;EAW47504;NP_001138593 Hs.691976 1705006;1717721;2021218;2021220 REN81594;REN81595;RH121768;SHGC-78012 bA517H2.3 OTTHUMP00000239276;OTTHUMP00000239498;T-complex 10-like protein 2;putative t-complex protein 10A homolog 2;t-complex 10-like 2 APPROVED protein-coding ENSG00000166984 21254 18427 INFERRED 1347590 TCN2 transcobalamin II This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 22 22 q12.2 29333161 29353047 + 31003070 31023047 + 1580449;1580450;1580451;1580863;6480464;7240710 12590948;7849710;16530812 19527514;3782074;1708393;19274320;19161160;19048631;19019335;18988749;18818748;18806228;18799873;18700049;18635682;18447718;18435414;18427977;18386810;18226574;18023275;17992530;17449906;17436311;17366004;17220211;17119065;17035141;16917939;16894458;16820193;16470748;15937947;15782407;15489334;15461802;15086930;14725943;14718574;14632784;12911562;12660150;12477932;12456598;12413492;12091374;12064907;11159542;10591208;9847074;8443384;8439564;8125298;7913804;7742531;19461557;19324355;7713919;7695633;20615890;20664391;20808328;20216556;10518276;12107818;19373259;19546821;19737740;19777601;19936946;19948975;20031554;20056620;20082058;20144600;20237949;20458436;2309761;3461892;3466852;655167;6860794;7129444;20140262;20852008;20883119;20948192;21214274;16537422;21163940;21832049;21865561;21975197;21770021;20890610;22794911;23099805;22188304;22544364;11788601;23089108 6948 AAB25526;B5MBX2;C9J6W9;F8WE86;P20062 ABBA01055303;AC005006;AF047576;AF076647;AK225445;AK313711;AMYH01012709;BC001176;BC011239;CH471095;CR456591;L02647;L02648;M60396;NG_007263;NM_000355;NM_001184726 AAA61054;AAA61056;AAA61057;AAB25526;AAC05491;AAG24506;AAH01176;AAH11239;ABM83737;ABM87056;CAG30477;CAK54622;CAK54921;EAW59907;EAW59908;EAW59909;EAW59910;NP_000346;NP_001171655;P20062 Hs.417948 1683878;1745115;1745117;1745119;1745121;1745123;1745125;1745905;1847279;2109925;2121408;2145075;2148101;2182548;5037552;5117666;5117668 D22S750;D8S2279;G18183;GDB:594872;GDB:594873;GDB:594875;GDB:594882;GDB:594884;GDB:594886;GDB:594889;GDB:594891;GDB:681759;RH27837;SHGC-12522;STS-AA036886;STS-L02648;TCN2_8668 D22S676;D22S750;II;TC;TC II;TC-2;TC2;TCII OTTHUMP00000199117;OTTHUMP00000199118;OTTHUMP00000199119;macrocytic anemia;transcobalamin II; macrocytic anemia;transcobalamin-2;vitamin B12-binding protein 2 APPROVED protein-coding ENSG00000185339 11653 02037 275350;613441 REVIEWED 1349641 TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008] 11 11 q11-q12 59376857 59390617 - 59620281 59634041 - 1580863;6480464 19303062;19686235;19729796;19948975;20082058;20216556;2777761;18830263;18485163;17891500;17487979;16740002;16470748;16341674;16335952;16268464;15941899;15834031;15489334;15342556;15201366;15073531;14739547;14656021;12923155;12590948;12477932;12194912;11788601;11717507;11373332;1463480;1176444;19913121;20628086;22872637;20852008;20360068;21574054;22306884 6947 P20061 ABBA01021509;AK292990;AMYH01003663;AP002347;BC018632;BM769693;BM818792;BP370727;CH471076;J05068;M74722;NM_001062 AAA61058;AAI56608;ABM83733;ABM87053;BAF85679;EAW73861;NP_001053;P20061 Hs.2012 1742565;1775663;2152802 GDB:197886;SHGC-12512;TCN1 TC-1;TC1;TCI OTTHUMP00000235879;TC I;TC-1;haptocorin;haptocorrin;transcobalamin-1 APPROVED protein-coding ENSG00000134827 11652 01795 189905 REVIEWED 1316655 TCP10 t-complex 10 6 6 6 q27 168326422 168337822 + 167706567 167717988 - 167786577 167797998 - 1580863 10934474;8111376;14574404;12477932;17207965;21832049;23314748 6953 D1MPS5;D6RC62;D6RHT9;H0YA40;Q12799 AA994391;ABBA01033432;AL592444;AMYH01016858;AMYH01016859;AMYH01016860;AMYH01016861;BC063451;BC065839;BC068592;CH471051;DB446953;NM_004610;U03399 AAA82109;AAH63451;ADQ32567;EAW47495;NP_004601;Q12799 Hs.351 1653744;1705006;1717721;1774875;2021218;2021220 D6S1843;REN81594;REN81595;RH121768;SHGC-78012;STS-U03399 MGC34049;TCP10A OTTHUMP00000017628;OTTHUMP00000220502;T-complex protein 10A homolog;t-complex 10 (a murine tcp homolog);t-complex 10 homolog APPROVED protein-coding 11656 01752 187020 VALIDATED 7244041 TCP11X1 t-complex 11 family, X-linked 1 100996631 B4DZS4 AC234791;XM_003846309;XM_003846310;XM_003846311;XM_003960071;XM_003960072;XM_003960073;Z70689 XP_003846357;XP_003846358;XP_003846359;XP_003960120;XP_003960121;XP_003960122 T-complex protein 11 homolog protein-coding ENSG00000215046 48369 MODEL 7243979 TCP11X2 t-complex 11 family, X-linked 2 100996648 B4DZS4;Q5H9J9 ABBA01020940;AC235565;AL590069;AMYH01022788;NM_001277423;XM_003846312;XM_003846313;XM_003846315;XM_003846765;XM_003846766;XM_003846768;XM_003959960;XM_003960074;XM_003960075;XM_003960076;XM_003960077;XM_003960829;XM_003960966 NP_001264352;XP_003846360;XP_003846361;XP_003846363;XP_003846813;XP_003846814;XP_003846816;XP_003960009;XP_003960123;XP_003960124;XP_003960125;XP_003960126;XP_003960878;XP_003961015 T-complex protein 11 homolog protein-coding ENSG00000215029 48335 VALIDATED 1348249 TCP1P1 t-complex 1 pseudogene 1 7 7 7 p14.1 42824905 42831008 + 42801029 42807132 + 42834504 42840607 + 12690205;9847074 647047 AACC02000040;ABBA01058177;AC010132;AC027269;AMYH01017204;CH236951;NG_006549 EAL24003 2128864;5491382 D7S776;TCP1 CCT1-3P;TCP1L1 pseudo 11659 INFERRED 1351377 TCP1P2 t-complex 1 pseudogene 2 5 5 5 p13.1 41474272 41476486 - 41621540 41623749 - 41585869 41588083 - 6952 ABBA01024234;AC008817;AMYH01015050;NG_003036 CCT1-2P;TCP1L2 pseudo 11660 INFERRED 1354018 TCP1P3 t-complex 1 pseudogene 3 12 12 12 p12.2 25249264 25251174 + 19985573 19987317 + 20094133 20096043 + 19584346 400013 ABBA01067953;AC024901;AC087237;AMYH01004315;NG_021108 1857693;2191763 MARC_7185-7186:996687609:1;SHGC-36020 CCT1-1P;TCP1L3 pseudo 21630 INFERRED 1351114 TCP11 t-complex 11, testis-specific 6 6 6 p21.31 36640276 36663005 - 35193827 35217165 - 35085848 35109187 - 6480464 18391951;14702039;12905703;12545228;12477932;11756566;9322250;1893875;1427894;20546612;20098747;21832049;21597245;18654987 6954 B7ZAT8;D6R8Y5;D6R989;D6R9D8;D6R9R9;D6RAC0;D6RBE4;D6RFY8;D6RG02;D6RGC0;D6RGY5;D6RIW4;H0Y8T8;J3KNG1 ABBA01038219;AF260330;AF269223;AF536532;AF536533;AK057234;AK098590;AK301778;AK301975;AK302022;AK302375;AK302456;AK315078;AK316403;AL138721;AMYH01016263;AY069943;BC033729;BC040003;BC048418;BC090050;BF507838;CH471081;DC395417;DC396535;HC007326;HC044687;NM_001093728;NM_001261817;NM_001261818;NM_001261819;NM_001261820;NM_001261821;NM_018679 AAF75551;AAF91370;AAH33729;AAH40003;AAH48418;AAH90050;AAL58042;AAN04044;AAN04045;BAG37546;BAG51889;BAH13551;BAH13597;BAH13610;BAH13688;BAH13714;BAH14774;CBH19468;CBH30673;EAX03808;EAX03809;NP_001087197;NP_001248746;NP_001248747;NP_001248748;NP_001248749;NP_001248750;NP_061149;Q8WWU5 Hs.435371 1697608;1798262 RH102315;TCP11_2623 D6S230E;FPPR;KIAA0229;MGC111103 OTTHUMP00000016244;OTTHUMP00000016245;OTTHUMP00000016246;OTTHUMP00000016248;OTTHUMP00000016249;OTTHUMP00000222639;OTTHUMP00000222650;OTTHUMP00000222658;T-complex protein 11 homolog;fertilization-promoting peptide receptor;t-complex 11 (a murine tcp homolog);t-complex 11 homolog APPROVED protein-coding ENSG00000124678 11658 01749 186982 VALIDATED 1605554 TCP11L2 t-complex 11, testis-specific-like 2 12 12 12 q23.3 106362190 106406396 + 105220711 105264923 + 106696581 106740793 + 6480464 12477932;21832049;22889924 255394 F8VRQ3;F8VU20;F8VW27;F8W0R5;F8W1M6;G3V1Y9;G3V1Z2;Q8N4U5 ABBA01053166;AC079174;AC080012;AF306671;AF306858;AK314055;AMYH01004723;BC017872;BC033617;CH471054;NM_152772 AAH33617;ABM82241;ABM85425;BAG36762;EAW97774;EAW97775;EAW97776;EAW97777;EAW97778;EAW97779;NP_689985;Q8N4U5 Hs.696047 1655472;1755383;2185781;5020948 G17664;G35510;RH70460;SHGC-142262 MGC40368 OTTHUMP00000242788;T-complex protein 11-like protein 2;t-complex 11-like 2 APPROVED protein-coding ENSG00000166046 28627 17555 PROVISIONAL 1343659 TCP10L t-complex 10-like 21 21 21 q22.11 19130781 19141475 - 32870733 32879714 - 33947151 33957845 - 6480464 15910542;15489334;15469726;14702039;14586771;12477932;10830953;8889548;8125298;20098747;17207965;21832049;19953087 140290 Q8TDR4;Q9NV44 ABBA01057319;AF115967;AK001794;AK058078;AK223529;AMYH01012201;AMYH01012202;AP000274;AP000275;BC022024;BC027970;BC033855;BG717680;BG721020;BI829783;BX111775;CB243926;CH471079;NM_144659 AAH27970;AAH33855;AAM18531;ADQ31627;BAA91915;BAB71653;BAD97249;EAX09869;NP_653260;Q8TDR4 Hs.728804 1698970;1759853;1798870;1799740;1801962;1802016;1802358;1804488;1805706;1809958;1817070;1833364;2021184;2021186;2021188;2021190;2021192;2021194;2021196;2021198;2021200;2021202;2021204;2021206;2021208;2021210;2021212;2021214;2021216;2021218;2021220;2021222;2021224;2021226;2021228;2021230;2021232;2021234;2021236;2021238;2021240;2021242;2021244;2021246;2021248;2021250;2021252;2021254;2021256;2021258;2021260;2021262;2021264;2021266;2021268;2021270;2021272;2021274;2021276;2021278;2021280;2021282;2021284;2021286;2021288;2100004;2100006;2100008;2100010;2100012;2100014;2100016;2100018 ECD00275;ECD00724;ECD01862;ECD01889;ECD02063;ECD03169;ECD03803;ECD05971;ECD09584;ECD17825;REN81576;REN81577;REN81578;REN81579;REN81580;REN81581;REN81582;REN81583;REN81584;REN81585;REN81586;REN81587;REN81588;REN81589;REN81590;REN81592;REN81593;REN81594;REN81595;REN81596;REN81597;REN81598;REN81599;REN81600;REN81601;REN81602;REN81603;REN81604;REN81605;REN81606;REN81607;REN81608;REN81609;REN81610;REN81611;REN81612;REN81613;REN81614;REN81615;REN81617;REN81618;REN81619;REN81620;REN81621;REN81622;REN81623;REN81624;REN81625;REN81626;REN81627;REN81630;REN81631;REN81632;RH103054;SHGC-170092;stSG606504;stSG606505;stSG606506;stSG606508;stSG606509;stSG606510;stSG606511;stSG606512 C21orf77;FLJ10932;MGC34297;PRED77;TCP10A-2 OTTHUMP00000067368;T-complex 10A-2;T-complex protein 10A homolog 2;T-complex protein 10A-2;TCP10-like;t-complex 10 (a murine tcp homolog)-like APPROVED protein-coding 11657 10518 608365 VALIDATED 1602322 TCP11L1 t-complex 11, testis-specific-like 1 11 11 11 p13 33207691 33241809 + 33017720 33051454 + 33060963 33095109 + 6480464 16344560;15342556;14702039;12477932;20098747;20205591;21832049;20360068;19953087;21890473 55346 B3KQZ4;E7EN41;E9PJ55;E9PMB0;E9PP52;E9PS88;H0YES4;Q9NUJ3;R4GNF5 ABBA01060898;AC131263;AK002198;AK021448;AK090646;AL121926;AMYH01003482;BC030582;BC041696;BP281502;CH471064;DA088926;DA340843;NM_001145541;NM_018393 AAH41696;BAA92131;BAB13827;BAG52206;CAC48254;EAW68205;EAW68206;EAW68207;EAW68208;EAW68209;EAW68210;NP_001139013;NP_060863;Q9NUJ3 Hs.655341 1706942;1851719;2137318;2174300;2179567 A009A03;RH12753;RH17820;RH36621;SHGC-80964 FLJ11336;FLJ11386;dJ85M6.3 OTTHUMP00000229340;OTTHUMP00000229342;OTTHUMP00000229354;T-complex protein 11-like protein 1;t-complex 11 (mouse) like 1;t-complex 11-like 1 APPROVED protein-coding ENSG00000176148 25655 07750 VALIDATED 1320415 TCOF1 Treacher Collins-Franceschetti syndrome 1 This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 5 5 q32 149717428 149760064 + 149737202 149779871 + 1599379;1580863;6480464;6907045;7240710 9096354 14702039;12777385;17643375;19027870;19527688;19615732;20003452;20237496;17353931;15249688;19067896;18688869;17786119;17081983;16964243;16801042;16102917;15832313;15489334;15340364;15302935;15039977;15019983;12210332;12114482;11734546;11013442;10982400;10545604;9811939;9736782;9299440;9074926;9042910;8889548;8563749;8488840;8125298;1765376;1303194;15604408;12171929;12477932;20634891;20538960;20800603;17620599;20301704;21182205;22939629;22990118;20811636;18029348;15848144;21951868;21139048;21693764;19596686;22586326;21145461;22317976;23398456;15385968;21988832;22729243;22952844;21848650 6949 B4DRA2;E7ETY2;E9PHK9;H0Y8Y7;H0YA99;H0YAB7;J3KQ96;Q13428 AB209317;ABBA01026281;AC011372;AI419459;AI939467;AK096467;AK225284;AK296918;AK299167;AK303611;AK307586;AL133039;AMYH01015707;AW135418;AY460334;BC008331;BC011764;BC014559;BC016144;BC027252;BC033093;BM664489;BX537490;CH471062;DC377932;NG_011341;NM_000356;NM_001008657;NM_001135243;NM_001135244;NM_001135245;NM_001195141;U40847;U76366;U79659;U79660;U84664 AAB40722;AAC50903;AAC51181;AAC51185;AAH11764;AAH14559;AAH16144;AAH27252;AAH33093;AAR87774;BAD92554;BAG59473;BAG61214;BAG64623;CAB61367;EAW61732;EAW61733;EAW61734;EAW61735;EAW61736;EAW61737;EAW61738;EAW61739;NP_000347;NP_001008657;NP_001128715;NP_001128716;NP_001128717;NP_001182070;Q13428 Hs.519672;Hs.605019 1740483;1793210;1793212;1793214;1793216;1793218;1793220;1793222;1793224;1793226;1793228;1793230;1793232;1793234;1793236;1793238;1793240;1793242;1793244;1793246;1793248;1793250;1793252;1793254;1793256;1793258;1793260;2108561;5016478;5037552;5109281;5119421 D1S1425;D5S2276E;D5S2311E;D8S2279;GDB:434012;PMC20330P1;PMC20330P10;PMC20330P11;PMC20330P12;PMC20330P13;PMC20330P14;PMC20330P15;PMC20330P16;PMC20330P17;PMC20330P18;PMC20330P19;PMC20330P20;PMC20330P21;PMC20330P22;PMC20330P23;PMC20330P24;PMC20330P25;PMC20330P26;PMC20330P27;PMC20330P3;PMC20330P4;PMC20330P5;PMC20330P6;PMC20330P7;PMC20330P8;PMC20330P9;TCOF1_8669 MFD1;TCS1;treacle OTTHUMP00000160560;OTTHUMP00000224041;OTTHUMP00000224042;OTTHUMP00000224043;OTTHUMP00000224044;OTTHUMP00000224077;OTTHUMP00000227678;OTTHUMP00000231643;Treacher Collins syndrome protein;nucleolar trafficking phosphoprotein;treacle protein APPROVED protein-coding ENSG00000070814 11654 06026 154500;606847 REVIEWED 732136 TCP1 t-complex 1 The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010] 6 6 q25.3-q26 160119520 160130725 - 160199530 160210735 - 1580863;6480464 14532270;1630491;11532003;19132087;17939680;17081983;16916647;16465465;16341674;15923617;15745879;15489334;15251459;14574404;12887895;12665801;12477932;12215766;12060742;11933046;11771755;11018062;10978337;10791973;10524223;10353914;9885248;9337846;9250675;9189717;8982604;8889548;8812443;8733136;8718679;8633246;8098536;7953530;7916460;7908441;7904580;7615668;3653076;3476253;2377466;1901944;1630492;1602151;1572657;16085932;18782753;18715871;10075921;12502735;14499622;18654987;21145461;21319273;19913121;20628086;18029348;17643375;18775504;20193073;19684306;16497536;21098288;22863883;22939629;20585571;16335966;20516061;16196087;17314511;19156129;22360420;15161933;18781797;21081666;21139048;21343306;21726808;21890473;21906983;21942715;21987572;22160715;17339318;20473970;21628590;14636579;19188445;18729074;19380743;22053931;22505724 6950 E7EQR6;E7ERF2;F5GYL4;F5GZ03;F5GZI8;F5H136;F5H282;F5H676;F5H726;F5H7Y1;P17987 AA810047;ABBA01021060;AK312604;AL135914;AMYH01016804;BC000665;BM697304;BM827784;BT006969;CH471051;M26885;M27271;M27272;NM_001008897;NM_030752;X14986;X52882 AAA61059;AAA61060;AAH00665;AAP35615;ABM84697;ABM92217;CAA37064;EAW47616;EAW47617;EAW47618;NP_001008897;NP_110379;P17987 Hs.363137 1857693;2132350;2168149;5117186 D6S1840;G06897;GDB:451649;SHGC-36020 CCT-alpha;CCT1;CCTa;D6S230E;TCP-1-alpha OTTHUMP00000017529;OTTHUMP00000238927;OTTHUMP00000238928;OTTHUMP00000238929;T-complex protein 1 subunit alpha;T-complex protein 1, alpha subunit;t-complex protein 1;tailless complex polypeptide 1 APPROVED protein-coding ENSG00000120438 11655 01748 186980 REVIEWED 1604203 TCTE1 t-complex-associated-testis-expressed 1 6 6 6 p21.1 45801050 45818612 - 44355880 44373405 - 44247897 44265458 - 6480464 12477932;9570741;2568335;1916824;19773279 202500 Q5JU00;Q5JU01 AA732744;ABBA01050640;ABBA01050641;AK301825;AK304265;AL353588;AMYH01016322;BC035022;CH471081;NM_182539 AAH35022;ABM82437;ABM85628;BAG63271;BAG65128;EAX04266;NP_872345;Q5JU00 Hs.189183 D6S46;FLJ50041;MGC33600 OTTHUMP00000016524;T-complex-associated testis-expressed protein 1;tcte-1 APPROVED protein-coding 11693 14568 186975 VALIDATED 1342729 TCTA T-cell leukemia translocation altered 3 3 3 p21 49414426 49418696 + 49424643 49428913 + 49449639 49453909 + 6480464 15231748;12477932;11181995;8889549;7728759;15489334;19560569;19692168;20046013;17207965;19913121;20628086;22174563 6988 P57738 AA181568;ABBA01024587;AC104452;AK000824;AK311839;AMYH01013158;BC005157;CB054963;CH471055;CR457411;EL954558;L41143;NM_022171 AAA97514;AAH05157;ADQ31822;BAG34781;CAG33692;NP_071503;P57738 Hs.517962 1796916;2162639;2162735;5015861;7185938 D10S16;NIB1593;STS-L41143;TCTA_269 OTTHUMP00000210789;T-cell leukemia translocation-altered gene protein;T-cell leukemia translocation-associated gene protein APPROVED protein-coding ENSG00000145022 11692 15977 600690 VALIDATED 1322136 TCTE3 t-complex-associated-testis-expressed 3 6 6 6 q27 170850390 170861813 - 169882140 169893563 - 170140215 170151638 - 6480464 12584439;12477932;1505969;21085971;21980299;21628590 6991 Q8IZS6 ABBA01016119;ABBA01016120;AF519569;AL354892;AMYH01016879;BC113639;CH471051;NM_174910 AAI13640;AAN34631;ADR83492;EAW47439;NP_777570;Q8IZS6 Hs.733746 MGC142199;TCTEX1D3 OTTHUMP00000017685;T-complex testis-specific protein 3;T-complex-associated testis-expressed protein 3;Tctex1 domain containing 3;tcte-3;tctex1 domain-containing protein 3 protein-coding ENSG00000184786 11695 01747 186977 PROVISIONAL 1344799 TDD testicular 17,20-desmolase deficiency 6994 11698 1606104 TCTEX1D4 Tctex1 domain containing 4 1 1 1 p34.1 43554460 43555837 - 45044172 45045544 - 45271580 45272957 - 6480464 16982625;12477932 343521 Q5JR98 ABBA01050907;ABBA01050908;AL592166;AMYH01000568;BC092499;DQ132441;NM_001013632;XM_003960906 AAH92499;ABA06522;NP_001013654;Q5JR98;XP_003960955 Hs.585137 1665001;1780204;2107943 CNK_2805;SHGC-154623;SHGC-74733 OTTHUMP00000010266;Tctex2 beta;novel Tctex-1 family domain-containing protein;protein N22.1;tctex-2-beta;tctex1 domain-containing protein 4 protein-coding ENSG00000188396 32315 15762 611713 PROVISIONAL 1603544 TCTEX1D1 Tctex1 domain containing 1 1 1 1 p31.3 65508109 65534705 + 66990730 67017058 + 67218140 67244730 + 6480464 16344560;14702039;12477932 200132 E9PI84;Q8N7M0 ABBA01074527;AI016360;AK098192;AK307100;AK307878;AL354978;AMYH01000688;BC106885;CH471059;DA520308;NM_152665 AAI06886;BAC05257;EAX06517;EAX06518;EAX06519;EAX06520;NP_689878;Q8N7M0 Hs.479226 1674404;1848857;2158229;5095750 D1S3166;D1S3352;G60212;WI-15116 FLJ40873;MGC125768;RP11-266I14.2 OTTHUMP00000010743;tctex1 domain-containing protein 1 protein-coding ENSG00000152760 26882 08287 VALIDATED 5134856 TDGF1P1 teratocarcinoma-derived growth factor 1 pseudogene 1 X X 42392266 42392792 - 38254622 38255148 - 100421177 ABBA01047027;AF241726;AMYH01022211;NG_026672 pseudo 42350 INFERRED 1345274 TDGF1P2 teratocarcinoma-derived growth factor 1 pseudogene 2 2 2 2 q36.3 222503269 222504655 - 228734830 228736380 - 228733886 228735272 - 11181995;10393436 22816 ABBA01050169;AC073065;AMYH01011543;CH471063;NG_001244;Y09998 EAW70879 CR-2;CRIPTO-2;TDGF2 APPROVED pseudo 11702 INFERRED 1347488 TDGF1P3 teratocarcinoma-derived growth factor 1 pseudogene 3 The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008] X X X q22.3 110243171 110245881 + 109650196 109652905 + 109763540 109766249 + 1580863;6480464 1882841;18835250;16954206;15772651 6998 P51864 ABBA01043395;AC000113;AF251549;AF251550;AMYH01022840;CH471120;M96956;NR_002718 AAA61135;AAB46353;AAG49538;AAG49539;EAX02658;P51864 Hs.592361 1689895;1691610;5015621;5037552;5113829 AL032578;D11S3732;D8S2279;RH79908;RH79926 CR-3;CRIPTO;CRIPTO-3;CRIPTO3;TDGF1;TDGF2;TDGF3 APPROVED pseudo ENSG00000225366 11703 PROVISIONAL 1350982 TDGF1P4 teratocarcinoma-derived growth factor 1 pseudogene 4 6 6 6 p25 5170363 5171427 + 3886392 3887456 + 3941512 3942254 + 10393436 22815 ABBA01021997;AL590004;AMYH01016038;NG_001243;Y09997 CR-4;CRIPTO-4;TDGF4 APPROVED pseudo 11704 INFERRED 1354457 TDGF1P5 teratocarcinoma-derived growth factor 1 pseudogene 5 8 8 8 q11.23 50976046 50976992 + 55148087 55149064 + 54985551 54986497 + 10393436 22814 ABBA01041736;AC100821;AMYH01018723;NG_001242;Y09996 CR-5;CRIPTO-5;TDGF5 APPROVED pseudo 11705 INFERRED 1352893 TDGF1P6 teratocarcinoma-derived growth factor 1 pseudogene 6 3 3 q22 134300603 134302099 + 135874390 135875886 + 10393436;10393436 22813 ABBA01059134;AC092991;AMYH01013519;NG_012350 CR-6;CRIPTO-6;TDGF6 APPROVED pseudo 11706 INFERRED 1342809 TDGF1P7 teratocarcinoma-derived growth factor 1 pseudogene 7 19 19 19 q13.2 36826810 36828684 + 44716943 44717501 + 40025099 40026973 + 10393436;10393436 100129080 ABBA01040733;AC011500;AMYH01009794;NG_012349 CR-7;CRIPTO-7;TDGF7 APPROVED pseudo 11707 INFERRED 1604497 TCTEX1D2 Tctex1 domain containing 2 3 3 3 q29 194599369 194625623 - 197502495 197529542 - 196018090 196045165 - 6480464 12477932;8889548;22990118;21900206 255758 E7ER86;E7ESA3;F8WD40;Q8WW35 ABBA01033729;ABBA01033730;ABBA01033731;ABBA01033732;AC069257;AI298516;AMYH01013793;BC015348;BC021177;BM548106;BM983853;CK818899;NM_152773 AAH15348;AAH21177;NP_689986;Q8WW35 Hs.733180 MGC33212 OTTHUMP00000208454;tctex1 domain-containing protein 2 protein-coding ENSG00000213123 28482 14554 VALIDATED 1606246 TCTN1 tectonic family member 1 This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 12 q24.11 110678539 110713763 + 109536263 109571318 + 111051832 111086935 + 6480464 16357211;15489334;14702039;12975309;12477932;15342556;21725307;20301500 79600 B4DIB9;E9PIB8;E9PNE4;E9PR69;F8VQ12;F8VRI9;F8VSB8;F8VSH9;F8VUY6;F8VX18;F8VZ99;F8VZA7;J3KPW2;Q2MV58 ABBA01005115;ABBA01005116;ABBA01005117;AC002350;AC144522;AK024780;AK055891;AK092775;AK128417;AK295514;AK301732;AMYH01004745;AY358184;BC030993;BC033811;BC040113;BC044885;BC062611;BP275624;CA419765;CH471054;DN997186;DQ278868;NG_030381;NM_001082537;NM_001082538;NM_001173975;NM_001173976;NM_024549 AAH30993;AAH33811;AAH40113;AAH62611;AAQ88551;ABB90560;BAB15000;BAB71036;BAC03973;BAG58431;BAH13543;EAW97929;EAW97930;EAW97931;EAW97932;NP_001076006;NP_001076007;NP_001167446;NP_001167447;NP_078825;Q2MV58 Hs.211511 1651257;5014554;5015607 D11S3014;G02231;RH68803 FLJ21127;JBTS13;TECT1 OTTHUMP00000196113;OTTHUMP00000196114;OTTHUMP00000196115;tectonic 1;tectonic-1 APPROVED protein-coding ENSG00000204852 26113 08636 609863 REVIEWED 1347185 TDO2L1 tryptophan 2,3-dioxygenase-like 1 7000 11709 1605624 TCTN2 tectonic family member 2 This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 12 12 12 q24.31 123752100 123789208 + 122721644 122758901 + 124155660 124192950 + 6480464 16357211;15489334;14702039;12477932;21565611;21462283;19322201;21906983;20301500 79867 F5H6G0;Q96GX1 ABBA01060394;ABBA01060395;AC117503;AK023037;AK056924;AK292153;AMYH01004841;BC009112;BM997327;BQ774678;CH471054;DQ278870;NG_030442;NM_001143850;NM_024809 AAH09112;ABB90562;BAB14370;BAF84842;BAG51827;EAW98430;NP_001137322;NP_079085;Q96GX1 Hs.167165 1746269;1746347;5015404;5020740;5024413;5024756;5037552 D8S2279;G64591;G64592;L17705;L17809;L17877;RH80030 C12orf38;FLJ12975;MKS8;TECT2 Meckel syndrome, type 8;OTTHUMP00000239215;OTTHUMP00000239216;tectonic 2;tectonic-2 APPROVED protein-coding ENSG00000168778 25774 07805 613846;613885 REVIEWED 1343478 TDH L-threonine dehydrogenase This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008] 8 8 8 p23.1 10325172 10353989 + 11234556 11263371 + 11197146 11225961 + 1580863;6480464 19027726;12477932;12361482;11896452;3536927 157739 Q8IZJ6 ABBA01026881;AF131216;AJ301562;AK057762;AMYH01018480;AY101186;AY101187;BC074983;NR_001578 AAM50036;AAM50037;BAB71562;CAC82738;Q8IZJ6 Hs.583896 1676958;1713179;1791910;1791912 PMC131051P1;PMC131051P2;RH120376;RH93098 FLJ25033;SDR14E1P APPROVED pseudo ENSG00000154316 15547 10264 615174 REVIEWED 1352791 TDGF1 teratocarcinoma-derived growth factor 1 This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 p21.31 46594217 46598957 + 46616045 46623953 + 1580863;6480464;6484113;7240710 12073012;12925698;9013573;11857442;8006041;9576836;10070255;10493495;12649175;19082438;19035567;18312357;18089557;17941089;17925387;17720976;17291450;17030617;16954206;16951234;16344560;16176936;15340161;14584041;14581455;12919325;12682303;12477932;12052855;11909953;11485994;10393436;9876177;8543395;8314343;7860072;2792079;1882841;16169070;21496809;22306319;19386982;19421146;19727905;19732464;19853938;19874624;20128024;20379614;20385969;17207965;20126975;20549704;21055389;20629020;23034635;21863025;21824804;22542493;21988832;23129342 6997 F5H1T8;P13385 ABBA01024712;AC104304;AK313319;AMYH01013131;AU125451;BC022393;BC067844;CH471055;CX755454;CX781482;CX785985;DA941183;M96955;NG_017049;NG_021214;NM_001174136;NM_003212;X14253 AAA61134;AAH22393;AAH67844;ACE87041;ADQ32262;BAG36124;CAA32467;EAW64773;EAW64774;NP_001167607;NP_003203;P13385 Hs.385870 1743099;5037552;5113829 D8S2279;GDB:252101;RH79926 CR;CRGF;CRIPTO;Cripto-1 OTTHUMP00000164716;cripto-1 growth factor;epidermal growth factor-like cripto protein CR1;teratocarcinoma-derived growth factor 1 APPROVED protein-coding ENSG00000241186 11701 01757 187395 REVIEWED 1343296 TDPX2 thioredoxin-dependent peroxide reductase 2 9 9 9 p22 12905122 12906068 - 12962533 12963605 - 12972559 12973505 - 8496166;8188254 7002 ABBA01065316;AL161449;AMYH01019232;NG_001201;X72297 1334533;1659968;1759057;1766793 D1S2391;D9S1687;SHGC-151112;SHGC-152122 PAGB pseudo 11711 INFERRED 1313033 TCTN3 tectonic family member 3 This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] 10 10 10 q24.1 91164350 91195122 - 97413163 97443890 - 97423153 97453900 - 6480464 16357211;15489334;15164054;15146197;14702039;12975309;12477932;8889548;16385451;22883145;20301500;22268729 26123 H0Y6N1;Q8NBQ0 ABBA01021834;AI375376;AK075357;AK098295;AK128834;AK299141;AL050022;AL356632;AMYH01002968;AW517317;AY359022;BC009494;BC061582;BC068449;BI561516;BQ005427;BU188435;BU742551;CH471066;CN427798;DQ278872;NG_032953;NM_001143973;NM_015631 AAH09494;AAH61582;AAH68449;AAQ89381;ABB90564;BAC05278;BAC11567;BAC87634;BAG61193;CAB43242;EAW49993;NP_001137445;NP_056446;Q6NUS6 Hs.438991 1658273;1688022;1736144;2165545;2165547;2169219;2169884;2186386 A001X33;D10S1399E;G19757;HSC14E022;RH190;RH91800;WI-17750;WI-18689 C10orf61;DKFZp564D116;JBTS18;OFD4;TECT3 OTTHUMP00000020157;OTTHUMP00000198569;tectonic 3;tectonic-3 APPROVED protein-coding ENSG00000119977 24519 12582 258860;613847;614815 REVIEWED 1346610 TDG thymine-DNA glycosylase The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008] 12 12 q24.1 102883747 102906786 + 104359593 104382656 + 1580863;2317355;6480464;6907045 9794235 10583946;9489705;14667819;8662714;11937636;19403629;19402749;19369898;19237606;18951877;18805789;18587051;18270339;17965616;17855402;17602166;17270163;17060459;17029639;16679534;16626738;16620772;16344560;15959518;15823533;15668625;15569683;15489334;15252450;15231748;12874288;12505994;12493755;12477932;15225156;15146197;11889051;11864601;11554300;11438542;9299239;8407958;8127859;6287922;1631061;10961991;18691969;22581838;20428781;16763556;18452947;18512959;19652917;19880517;20226869;20379614;20522537;20574454;22962365;19394292;21284855;21693764;21862836;21890473;21906983;21963094;22327402;22573813;19471022;20696907;21988832;23209024;22505724 6996 B4DI29;B4E127;F5H0I7;F5H539;G8JL98;H0YH18;Q13569 ABBA01053209;AC078819;AF545435;AI004247;AI452763;AK295387;AK299832;AK303631;AK309792;AK311673;AK313234;AL710869;AMYH01004710;BC001307;BC010945;BC019925;BC037557;BC071714;BC104477;CB047650;CH471054;CN274338;DB162106;DN601672;DQ786320;NM_003211 AAH19925;AAH37557;AAI04478;AAN16399;BAG36045;BAG58341;BAG61699;BAG64639;EAW97727;EAW97728;EAW97729;NP_003202;Q13569 Hs.584809 1684724;1687139;1688410;1690670;5117216 GDB:451803;RH48085;RH70430;RH76675;RH98792 hTDG G/T mismatch-specific thymine DNA glycosylase;OTTHUMP00000238748;OTTHUMP00000238750;OTTHUMP00000238751;OTTHUMP00000238752 APPROVED protein-coding ENSG00000139372 11700 03251 601423 REVIEWED 7207353 TDRD15 tudor domain containing 15 2 p24.1 21346484 21366144 + 18262040 100129278 B5MCY1 AC010872;EG328743;XM_001717344;XM_001717447 B5MCY1;XP_001717396;XP_001717499 Hs.651096 Tudor domain-containing protein 6;tudor domain containing 15;tudor domain-containing protein 15;tudor domain-containing protein 6-like protein-coding 45037 68531 TDO2 tryptophan 2,3-dioxygenase This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012] 4 4 q31-q32 157044297 157061000 + 156824845 156841558 + 1358595;1580863;2290313;2290190;2303721;6480464;6907045 8873217;3400092;10719243;7236232 17207965;20361220;8666386;14704851;19502010;19218188;18370401;16892178;16189514;16094384;15489334;15390107;14755447;12634647;12477932;11469796;11140838;2004780;19637229;19786962;21361337;21892828;22318606;22082147;21976023;22308364 6999 D6RA50;D6RB68;P48775 AA705255;ABBA01070177;ABBA01070178;AC093830;AK289418;AK307741;AMYH01014636;AMYH01014637;BC005355;BG616664;BX647341;CH471056;NM_005651;U32989 AAB08514;AAH05355;ACE86466;ACE87147;ADQ31785;BAF82107;EAX04884;EAX04885;EAX04886;NP_005642;P48775 Hs.183671;Hs.593955 1644851;1645986;1847955;2109927 A006M46;D4S3293;SHGC-50178;TDO2_8670 TDO;TO;TPH2;TRPO OTTHUMP00000220788;TO;tryptamin 2,3-dioxygenase;tryptophan 2,3-dioxygenase;tryptophan oxygenase;tryptophan pyrrolase;tryptophanase APPROVED protein-coding ENSG00000151790 11708 01847 191070 REVIEWED 1352694 TDRD4 tudor domain containing 4 1580863 54513 Q9NUY9 AK001907;NM_019038 20613 1314584 TDRD1 tudor domain containing 1 This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] 10 10 10 q25.3 109668200 109721231 + 115929019 115982053 + 115939029 115992063 + 1580863;6480464 17474147;14702039;12477932;11279525;16712791;16385451;23319146;22360420;19156129;21139048 56165 B7WPM2;C9JRE4;H9KV62;H9KV63;Q9H7B3 ABBA01062982;AC022023;AF285606;AK024735;AK122916;AK304331;AL833340;AMYH01003086;BC035010;BC063133;BQ882979;BX648664;CB136029;CH471066;NM_198795 AAH35010;AAH63133;AAK31985;BAB14982;BAG53796;BAG65177;EAW49476;EAW49477;EAW49478;EAW49479;EAW49480;NP_942090;Q9BXT4 Hs.333132 1719975;1750273;1781244;2106707;5020627 G65770;RH123966;SHGC-112497;TDRD1__5233;stSG70243 CT41.1;FLJ21082 OTTHUMP00000020525;OTTHUMP00000020526;cancer/testis antigen 41.1;tudor domain containing protein 1;tudor domain-containing protein 1 APPROVED protein-coding ENSG00000095627 11712 12047 605796 REVIEWED 2292096 TDRD12 tudor domain containing 12 19 19 19 q13.11 29904299 29975332 + 37902499 38004006 + 33210679 33281714 + 6480464 14702039;12787504;12477932;11441184;20383146 91646 H3BU70;Q587J7 AB211063;ABBA01039601;ABBA01039602;AC008736;AC008805;AK023134;AMYH01009697;AMYH01009698;BC049000;BI769394;NM_001110822 AAI48520;BAD95490;NP_001104292;Q587J7 Hs.646351;Hs.729739 2143873;5022578;5037552 D1S1423;D8S2279;GDB:1318362 ECAT8;FLJ13072 ES cell associated transcript 8;ES cell-associated transcript 8 protein;tudor domain-containing protein 12 protein-coding ENSG00000173809 25044 VALIDATED 1314293 TDRD6 tudor domain containing 6 6 6 6 p12.3 48208136 48224578 + 46763825 46778109 + 46655612 46672056 + 6480464 17215373;14702039;14574404;11181995;9610721;20811636 221400 H0Y590;O60522 ABBA01050615;AF039442;AK125838;AK131455;AL591242;AMYH01016328;AMYH01016329;BX648686;CH471081;CR936792;EF185284;NM_001010870;NM_001168359 AAC18034;AAI72752;ABM69146;BAG54254;CAI45997;EAX04300;NP_001010870;NP_001161831;O60522 Hs.656983 5022578 D1S1423 CT41.2;DKFZp781I1148;FLJ43850;NY-CO-45;SPATA36;TDR2;bA446F17.4 OTTHUMP00000016553;OTTHUMP00000016554;antigen NY-CO-45;cancer/testis antigen 41.2;spermatogenesis associated 36;tudor domain-containing protein 6;tudor repeat 2 protein-coding ENSG00000180113 21339 18172 611200 VALIDATED 1605585 TDRD10 tudor domain containing 10 1 1 1 q21.3 127546343 127592255 + 152741319 152787247 + 154474695 154520623 + 16710414;15489334;12975309;12477932;20379614 126668 Q8TCN3 ABBA01049487;ABBA01049488;ABBA01049489;AK302144;AL162591;AL592078;AL713777;AMYH01001418;AY358195;BC044864;BC100895;BC100896;BC100897;BC100898;CH471121;NM_001098475;NM_182499 AAH44864;AAI00896;AAI00897;AAI00898;AAI00899;AAQ88562;BAG63516;CAD28538;EAW53194;EAW53195;EAW53196;NP_001091945;NP_872305;Q5VZ19 Hs.387671 1692076;1699232;2117938;2125898;2152243 AL009352;AL033678;D1S2591;RH103197;STS-AA040089 DKFZp434M202;RP11-61L14.3 OTTHUMP00000035376;OTTHUMP00000035377;tudor domain-containing protein 10 protein-coding ENSG00000163239 25316 13196 VALIDATED 6480274 TDRG1 testis development related 1 (non-protein coding) 6 p21.2 40346163 40347631 + 21243750;22123530 732253 ABBA01050766;AL591063;AMYH01016290;CH471081;DQ168992;NR_024015 AAZ82017;EAX04005 Hs.180197 1649168 SHGC-31264 LINC00532 miscrna ENSG00000204091 43642 PREDICTED 1348894 TDP2 tyrosyl-DNA phosphodiesterase 2 This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008] 6 6 p22.3-p22.1 24758184 24775094 - 24650205 24667115 - 1580863;6480464 18039968;10764746;19580783;19023331;18706885;17597587;15489334;14702039;14574404;12743594;12477932;11478795;10931946;14609633;20677014;19757154;21030584;15231748;19776380;19794497;22405347;21478903;20639865;21900206;21987572;22262880;21139048;21890473;21906983;19471022;21921940;22822062;22053931;22505724;22908287 51567 O95551 ABBA01066538;AF201687;AF223469;AJ269473;AJ420495;AK002168;AK296623;AK298699;AK308836;AL031775;AMYH01016151;AY613922;BC017553;BC110375;CH471087;NM_016614 AAF64144;AAG35600;AAH17553;AAI10376;AAT09764;ABZ92143;BAA92119;BAG59230;BAG60857;CAB92966;EAW55458;EAW55459;NP_057698;O95551 Hs.403010 1644192;1644194;1691046;2110005;2164990 A001T03;G19612;RH36217;RH93934;TTRAP_9740 AD022;EAP2;EAPII;MGC111021;MGC9099;RP1-30M3.3;TTRAP;dJ30M3.3;hTDP2 5'-Tyr-DNA phosphodiesterase;5'-tyrosyl-DNA phosphodiesterase;EAPII;ETS1-associated protein 2;ETS1-associated protein II;OTTHUMP00000016091;OTTHUMP00000016092;TRAF and TNF receptor associated protein;TRAF and TNF receptor-associated protein;VPg unlinkase;tyr-DNA phosphodiesterase 2;tyrosyl-DNA phosphodiesterase 2;tyrosyl-RNA phosphodiesterase APPROVED protein-coding ENSG00000111802 17768 05771 605764 REVIEWED 1320052 TDP1 tyrosyl-DNA phosphodiesterase 1 The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq, Jul 2008] 14 14 q32.11 89491999 89580861 + 90422246 90511108 + 6480464;7240710 17118488;17576665;17948061;15811850;15744309;12023295;17600775;18347181;18270339;17707402;17081983;16935573;16775218;16141202;15920477;15647511;15494395;15489334;15248776;15111055;14761185;14702039;12618186;12508121;12477932;12470949;12244316;11839309;11572945;10521354;8889548;17478428;19505854;19604089;19851285;20009512;20097655;21041670;20301284;21276450;22939629;21628532;21252943;21139048;21906983;22155078;19471022;22415824;22375014 55775 B3KN41;E7EPD8;G3V2F4;G3V2J6;G3V2U6;G3V3Q0;G3V4W8;G3V554;G3V5B8;G3V5F9;G3V5H9;H0YJ44;H0YJL7;Q86TV8;Q9BRS7;Q9NUW8 ABBA01030509;ABBA01030510;ABBA01030511;AF182002;AF182003;AK001952;AK023514;AK093235;AK315549;AL137128;AL832288;AMYH01005942;BC006083;BC015474;BC107877;BM661793;BU849335;BX161451;CH471061;DQ367843;NG_009164;NM_001008744;NM_018319 AAF65623;AAF65624;AAH06083;AAH15474;AAI07878;ABC79301;BAA91997;BAG37927;BAG51203;CAD61915;EAW81414;EAW81415;EAW81416;NP_001008744;NP_060789;Q9NUW8 Hs.209945 1645616;1706054;1706952;1756135;1767674;2125846;2140695;2184856 G36046;RH44767;RH65069;SHGC-142938;SHGC-80062;SHGC-80973;STS-W60094;WI-12715 FLJ11090;MGC104252 OTTHUMP00000244881;OTTHUMP00000244883;OTTHUMP00000244885;OTTHUMP00000244892;tyr-DNA phosphodiesterase 1;tyrosyl-DNA phosphodiesterase 1 APPROVED protein-coding ENSG00000042088 18884 06226 607198;607250 REVIEWED 1350621 TDRD7 tudor domain containing 7 This gene encodes a component of cytoplasmic RNA granules which are involved in determining the fate of mRNAs. Mutation in this gene has been associated with pediatric cataracts. Mutation of the similar gene in mice has been associated with cataracts, glaucoma and a block in spermatogenesis. [provided by RefSeq, May 2011] 9 9 9 q22.33 70688547 70772637 + 99214123 99298228 + 100174302 100258407 + 737633;1580863;6480464 12477932 16713569;16189514;15489334;14603251;11903063;11527406;10727952;21436445;21988832;21139048 23424 Q9UFF0 AB025254;ABBA01042931;ABBA01042932;AK294488;AK301954;AK310227;AK314853;AL122110;AL449464;AL512590;AMYH01021553;AW268820;BC028694;CH471105;NG_028984;NM_014290 AAH28694;ABM85047;BAA76379;BAG37370;BAG57710;BAG63369;CAB59271;EAW58843;EAW58844;NP_055105;Q8NHU6 Hs.193842 2138143 G31522 CATC4;CTRCT36;KIAA1529;PCTAIRE2BP;RP11-508D10.1;TRAP OTTHUMP00000021745;PCTAIRE2-binding protein;tudor domain-containing protein 7;tudor repeat associator with PCTAIRE 2;tudor repeat associator with PCTAIRE-2 APPROVED protein-coding ENSG00000196116 30831 11626 611258;613887 REVIEWED 1320851 TDRD3 tudor domain containing 3 13 13 13 q21.2 41929733 42107133 + 59911823 60046012 + 60970591 61148013 + 1580863;6480464 18664458;18632687;16381901;16344560;15489336;15489334;14702039;12477932;11329013;11256614;11230166;11076863;21172665;22267201;22747683;22363433 81550 B1AMN9;F2Z2Y2;Q9H7E2 AA004370;ABBA01050216;AK023578;AK024660;AL354764;AL359920;AL512666;AMYH01005156;AMYH01005157;AMYH01005158;BC020604;BC030514;BC060876;BG191408;BG219444;BX537910;CH471124;DA440035;EU643838;NM_001146070;NM_001146071;NM_030794 AAH30514;AAH60876;ACC94142;BAB14950;CAD97894;CAL37786;EAW52079;EAW52080;EAW52081;EAW52082;NP_001139542;NP_001139543;NP_110421;Q9H7E2 Hs.525061 1647203;1661632;1682029;1686380;2113318 D13S1720;RH11258;RH47176;SHGC-13721;WI-14979 FLJ21007;RP11-459E2.1 OTTHUMP00000018483;OTTHUMP00000018485;tudor domain-containing protein 3 protein-coding ENSG00000083544 20612 11625 614392 VALIDATED 1316056 TDRD5 tudor domain containing 5 1 1 1 q25.2 152668657 152768022 + 177827648 177927021 + 179560748 179660407 + 1580863;6480464 18519826;17081983;16710414;15489334;14702039;12477932;19536175;20379614;16344560 163589 Q8NAT2 ABBA01027808;ABBA01027809;ABBA01027810;ABBA01027811;ABBA01027812;AK092142;AK126889;AK127370;AL160286;AL590987;AL691433;AMYH01001532;AMYH01001533;AMYH01001534;BC043368;BC065707;BC089387;BC130532;BC144058;BG771449;CH471067;DA418635;DB073297;NM_001199085;NM_001199089;NM_001199091;NM_001199092;NM_173533 AAH43368;AAH89387;AAI30533;AAI44059;BAC03815;BAC86946;EAW91051;EAW91052;EAW91053;EAW91054;NP_001186014;NP_001186018;NP_001186020;NP_001186021;NP_775804;Q8NAT2 Hs.197354;Hs.739186 1339279;1697674;1767015;2178721;5492072;7186924 AL009449;D1S215;RH102352;SHGC-152665;Tdrd5 FLJ34823;MGC163404;RP11-427G13.1;TUDOR3 OTTHUMP00000033192;OTTHUMP00000033193;tudor domain-containing protein 5 protein-coding ENSG00000162782 20614 15483 VALIDATED 1315843 TDRD9 tudor domain containing 9 14 14 14 q32.33 84449057 84573226 + 103506687 103588755 + 104394817 104519004 + 6480464 19308021;14702039;12477932;17554300;20414141;20549515;21254220 122402 H0YJJ2;Q86WA0;Q8NDG6 ABBA01048392;ABBA01048393;ABBA01048394;ABBA01048395;ABBA01048396;AK093483;AK097429;AK097699;AK125978;AL132712;AL136001;AL833915;AMYH01006054;AMYH01006055;BC016796;BC033662;BC042804;BC128057;BG719020;BU430972;NM_153046;U56244 AAC25432;AAH16796;AAI28058;BAC04182;BAC05047;BAC05144;BAC86372;CAD38771;NP_694591;Q8NDG6 Hs.21454 1647971;1701404;1853009;2106709;2124400;2125219;2126595;2139694;2168975 D14S940;G35366;G35533;G35566;G35706;G35738;G36281;RH104332;TDRD9__5236 C14orf75;DKFZp434N0820;FLJ36164;HIG-1;MGC135025;NET54 OTTHUMP00000202599;OTTHUMP00000246577;hypoxia-inducible HIG-1;putative ATP-dependent RNA helicase TDRD9;tudor domain-containing protein 9 protein-coding ENSG00000156414 20122 15484 VALIDATED 1602978 TDRP testis development related protein 8 8 8 p23.3 409563 463346 - 431646 485331 - 439790 495781 - 6480464 12477932;20170638;20379614;21646302;14702039;15146197 157695 Q86YL5 ABBA01007277;ABBA01007278;AC083964;AC090135;AC090691;AK126209;AMYH01018267;AMYH01018268;AY194292;BC033779;BC136248;BC136249;BX648606;CH471181;CN430635;DB461052;DR003272;FJ381685;NM_001256113;NM_175075 AAI36249;AAI36250;AAO23974;ACJ10204;EAW51462;NP_001243042;NP_778250;Q86YL5 Hs.289293 1663556;1680896;1721429;2142738;2156435;2171414;5095724 A002T47;Cda12a12;D8S1482;D8S2111;G59566;G59739;RH48093 DKFZp686J15216;FLJ44221;INM01;TDRP;TDRP1;TDRP2 OTTHUMP00000224416;testis development-related protein;uncharacterized protein C8orf42 APPROVED protein-coding ENSG00000180190 26951 13740 VALIDATED 1351522 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010] 11 11 p15.2 12652545 12922875 + 12695969 12966284 + 1580863;6480464;7240710 11358867;9869635;19410955;19015275;19002168;18775765;18177740;17081983;15140898;15016762;14762206;14702039;12861002;12565854;12477932;12376544;12061776;11751932;11136726;10518497;9889009;9199327;8921372;8396764;8253797;7795606;7642633;1851669;10934189;15146197;18579750;20379614;8423815;8441689;23029054;19324877;21139048;21532573;20881960 7003 A4FUP2;E9PKB7;H0YCZ6;H0YE88;H0YEJ9;P28347;Q59EF3 AB209858;ABBA01061126;ABBA01061127;ABBA01061128;AC013549;AC084859;AC107881;AI189919;AI199443;AK027342;AK075070;AK075176;AK075236;AK310928;AL035973;AL117450;AL133574;AL833289;AMYH01003396;AMYH01003397;BC026959;BC115398;BG720371;BU172369;CA420177;CH471064;CN420966;DR000961;M63896;NG_021302;NM_021961;X84839 AAB00791;AAI15399;BAD93095;EAW68520;EAW68521;NP_068780;P28347 Hs.655331 1335959;1336607;1338281;1339617;1340011;1685820;1696652;1736977;1753613;1782500;1798264;2113274;2113276;2130626;2147761;2151801;2154633;2169607;2179440;2181452;7183758;7185021;7187380 D11S1154;D11S1222;D11S1315;D11S1323;D11S1334;D11S2690;D11S4116;D11S4934;D11S4935;D11S902;G35333;RH36447;RH48654;RH66129;RH68897;RH75549;SHGC-107541;SHGC-70156;SHGC-82961;TEAD1_2044 AA;FLJ17970;NTEF-1;REF1;TCF-13;TCF13;TEAD-1;TEF-1 OTTHUMP00000231380;OTTHUMP00000231431;protein GT-IIC;transcription factor 13;transcriptional enhancer factor 1;transcriptional enhancer factor TEF-1 APPROVED protein-coding ENSG00000187079 11714 01802 108985;189967 REVIEWED 1322527 TDRKH tudor and KH domain containing 1 1 1 q21 124858715 124877693 - 150010664 150029634 - 151744040 151763010 - 1580863;6480464 16344560;15955813;15489334;14702039;12477932;10767542;8125298;20877624;21139048 11022 B4DJ68;B7ZAG4;E9PKN8;E9PQX4;Q5SZR4;Q9Y2W6 ABBA01049404;AF119121;AF227192;AF227634;AK056402;AK225160;AK226092;AK295948;AK303063;AK316279;AL589765;AMYH01001395;BC022467;BC032690;CH471121;DA796638;NM_001083963;NM_001083964;NM_001083965;NM_006862 AAD30971;AAF36701;AAF68379;AAI56178;AAI72470;ABM81748;ABM87751;BAG51697;BAG58730;BAG64180;BAH14650;EAW53408;EAW53409;EAW53410;EAW53411;NP_001077432;NP_001077433;NP_001077434;NP_006853;Q9Y2W6 Hs.144439 1691020;1697320;1782912;1782916;2109929;5022613 D1S2120;RH102157;RH69511;SHGC-155176;SHGC-155178;TDRKH_9212 TDRD2 OTTHUMP00000015259;OTTHUMP00000015260;OTTHUMP00000015261;OTTHUMP00000015262;OTTHUMP00000015263;OTTHUMP00000232248;putative RNA binding protein;tudor and KH domain containing protein;tudor and KH domain-containing protein;tudor domain containing 2;tudor domain-containing protein 2 protein-coding ENSG00000182134 11713 15485 609501 VALIDATED 1344942 TEAD2 TEA domain family member 2 19 19 19 q13.3 46710704 46732570 - 54535664 54557526 - 49843852 49865714 - 1580863;6480464 8702974;15489334;14702039;12477932;9889009;10518497;10934189;11358867;19913121;20628086;18579750;19324877;20368466;19322201;19953087;21906983 8463 M0R1A5;M0R1T9;M0R290;Q15562 ABBA01032931;ABBA01032932;ABBA01032933;AC010524;AK093236;AK290736;AK300241;AL832240;AMYH01009911;BC007556;BC018803;BC051301;BG334109;CH471177;NM_001256658;NM_001256659;NM_001256660;NM_001256661;NM_001256662;NM_003598;X94440 AAH07556;AAH51301;ABM84089;ABM87459;BAC04104;BAF83425;BAG62008;CAA64214;EAW52469;EAW52470;EAW52471;EAW52472;EAW52473;NP_001243587;NP_001243588;NP_001243589;NP_001243590;NP_001243591;NP_003589;Q15562 Hs.515534 1670329;1677558;1796918;2144468 RH93092;STS-AA024912;TEAD2_1586;WI-15345 ETF;TEAD-2;TEF-4;TEF4 TEAD-2;transcriptional enhancer factor TEF-4 protein-coding ENSG00000074219 11715 601729 VALIDATED 1605719 TEAD4 TEA domain family member 4 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008] 12 12 p13.3-p13.2 2938757 3020103 + 3068478 3149842 + 6480464 21169295;8921372;8662936;18840614;18579725;17652751;15520314;12477932;11358867;10518497;9889009;8702974;8125298;16189514;16344560;12861002;18579750;19324877;22843786;21169383;21540178;21693764;19471022;22433836;22652601;22761647;21890473;23000965;23496005 7004 H0Y7B0;H0YFF9;H0YFK0;H0YG62;H0YGS2;Q15561;Q53GI4 ABBA01048789;ABBA01048790;AC005911;AC125807;AC131234;AK222947;AMYH01004184;AMYH01004185;AY101179;BC015497;BM464237;BM555991;BX640921;CH471116;DA210894;DA886817;NG_029958;NM_003213;NM_201441;NM_201443;U63824;X94438 AAC50763;AAH15497;AAM89497;ABZ92031;BAD96667;CAA64212;CAE45959;EAW88872;EAW88873;EAW88874;EAW88875;NP_003204;NP_958849;NP_958851;Q15561 Hs.94865 1707304;2108563;2145108 RH70692;SHGC-79256;TEAD4_7887 EFTR-2;MGC9014;RTEF1;TCF13L1;TEF-3;TEF3;TEFR-1;hRTEF-1B OTTHUMP00000238119;OTTHUMP00000238122;OTTHUMP00000238124;TEAD-4;related transcription enhancer factor 1B;transcription factor 13-like 1;transcription factor RTEF-1;transcriptional enhancer factor 1-related;transcriptional enhancer factor 3;transcriptional enhancer factor TEF-3 APPROVED protein-coding ENSG00000197905 11717 03421 601714 REVIEWED 6484111 TECRP1 trans-2,3-enoyl-CoA reductase pseudogene 1 4 q21.3 87870690 87871257 - 442777 ABBA01063516;AC093827;AMYH01014371;NG_005327 2173505;2176816;2179691 RH70771;SHGC-24811;SHGC-50561 pseudo 44050 INFERRED 6484110 TECRP2 trans-2,3-enoyl-CoA reductase pseudogene 2 4 q28.1 125383913 125385015 - 391696 ABBA01044768;AC097474;AMYH01014501;NG_005322 pseudo 44051 INFERRED 732236 TEC tec protein tyrosine kinase The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008] 4 4 p12 47832557 47966571 - 48137800 48271814 - 1580863;6480464;6484113;6907045 7934162;19167335;19393603;18564921;18512796;15588985;15492005;15184383;14993283;14614854;12573241;12515866;12477932;12445832;12049818;11940595;11825908;11716489;11598012;11489907;11328862;11071635;11013262;10823839;10795735;10647781;10518561;10382746;9872994;9473212;9446655;9341160;9299487;9178903;8892607;8632917;8630736;8629002;8621063;7651724;7526158;2284097;19913121;20628086;18171525;15355990;19807924;19883687;20230531;20379614;18029348;20098747;9652744;19953087;21890473;16273093;16964398;21706016;23128233;22581839;19380743 7006 D6RB05;D6RB75;P42680 ABBA01014342;ABBA01014343;ABBA01014344;AC079118;AC098873;AMYH01014160;BC101711;BC101713;BC143487;CH471069;D29767;NM_003215;U34367 AAB60411;AAI01712;AAI01714;AAI43488;BAA06171;EAW93054;EAW93055;NP_003206;P42680 Hs.479670 1661173;1661434;1710534;1784968;1789687;2108565;2123566;2128983;2150969;2151651 D4S2738;D4S3131;D4S518;G34338;RH70608;RW11;SHGC-111508;SHGC-51527;SHGC-86308;TEC_8671 MGC126760;MGC126762;PSCTK4 OTTHUMP00000158787;tyrosine-protein kinase Tec APPROVED protein-coding ENSG00000135605 11719 02786 600583 REVIEWED 1320369 TECTA tectorin alpha The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] 11 11 q22-q24 120478585 120566725 + 120973375 121061515 + 1599380;1599381;1580863;6480464;7240710 9590290;9949200 9106521;19005249;18575463;18022253;17661817;17431902;17136632;16718611;15319541;12746400;12162770;11333869;10987647;10196713;9718342;9503015;9150164;22544735;20739942;21368133;20142329;20947814;22995349;22718023;21520338;22037481;20301607 7007 O75443 ABBA01031310;ABBA01031311;ABBA01031312;AF055136;AMYH01004091;AMYH01004092;AP000646;AP000826;CH471065;NG_011633;NM_005422 AAC26019;AAI56466;AAI72509;EAW67516;EAW67517;EAW67518;NP_005413;O75443 Hs.248162 1335187;1336203;1727395;1737673;2152115 D11S3276;D11S4089;D11S4107;G63105;RH48885 DFNA12;DFNA8;DFNB21 OTTHUMP00000195078;alpha-tectorin APPROVED protein-coding ENSG00000109927 11720 03985 601543;602574;603629 REVIEWED 1606464 TEDDM1 transmembrane epididymal protein 1 1 1 1 q25.3 155478335 155480833 - 180633875 180636374 - 182367252 182369751 - 6480464 127670 Q5T9Z0 ABBA01027765;AJ515384;AL139344;AMYH01001547;CH471067;HC044647;NM_172000 CAD56348;CBH30653;EAW91123;NP_741997;Q5T9Z0 Hs.156977 EDDM9;Epdd1;HE9;RP1-223H12.2;TMEM45C OTTHUMP00000035521;epididymal protein 9;human epididymis-specific protein 9;putative membrane protein HE9;transmembrane epididymal protein 1;transmembrane protein 45C protein-coding ENSG00000203730 30233 13642 VALIDATED 1323117 TEAD3 TEA domain family member 3 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008] 6 6 6 p21.2 36995352 37018841 - 35549352 35572839 - 35441374 35464861 - 1580863;6480464 9148898;16344560;15489334;15131259;14574404;12477932;11986313;10518497;10379887;9889009;12748276;16189514;11358867;12861002;18579750;19324877;18029348;21890473 7005 B5MCM0;H7C4A7;Q99594 ABBA01038234;AF142482;AK226144;AL022721;AL033519;AMYH01016267;BC010053;BC027877;BC091488;BQ719548;CH471081;DA856821;NM_003214;X94439 AAD29052;AAH10053;AAH27877;AAH91488;ADZ16064;CAA64213;EAX03835;EAX03836;EAX03837;EAX03838;NP_003205;Q99594 Hs.485205 1780418;1798266 AW125760;TEAD3_2532 DTEF-1;ETFR-1;TEAD-3;TEAD5;TEF-5;TEF5 OTTHUMP00000016261;OTTHUMP00000196695;TEA domain family member 5;TEAD-3;Transcriptional enhancer factor TEF-5 (DTEF-1);transcriptional enhancer factor 5;transcriptional enhancer factor TEF-5 APPROVED protein-coding ENSG00000007866 11716 04411 603170 REVIEWED 5144731 TEDDM1P1 transmembrane epididymal protein 1 pseudogene 1 1 1 1 q25.3 155521814 155522599 + 180662102 180678120 + 182410832 182411586 + 127671 ABBA01027765;AL139344;AMYH01001547;NG_030210 pseudo 42447 INFERRED 1601877 TECPR1 tectonin beta-propeller repeat containing 1 This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] 7 7 7 q21.3 92539935 92575367 - 97683972 97719404 - 97846036 97881468 - 6480464 14702039;12690205;12477932;10718198;20562859;22342342;21795850 25851 C9J2A1;C9JEV4;C9JUV4;Q7Z6L1 AACC02000085;AB037779;ABBA01045733;ABBA01045734;AC091654;AK027072;AK057048;AK057618;AK075074;AK292996;AL117495;AMYH01017711;AMYH01017712;BC012529;BC053591;BE616972;BQ009108;CH236956;CH471091;DA336445;NM_015395 AAH12529;AAH53591;BAA92596;BAF85685;BAG51853;CAB55961;EAL23891;EAW76716;EAW76717;EAW76718;NP_056210;Q7Z6L1 Hs.592281 2181554;5037552 D8S2279;RH48510 DKFZP434B0335;FLJ23419;FLJ90593 OTTHUMP00000205440;tectonin beta-propeller repeat-containing protein 1 protein-coding ENSG00000205356 22214 08521 614781 REVIEWED 1316735 TECPR2 tectonin beta-propeller repeat containing 2 14 14 14 q32.31 82883809 83023050 + 101899131 102038570 + 102829300 102968818 + 6480464;7240710 18029348;12477932;9205841;20562859;23176824 9895 O15040 AB002295;AB002327;ABBA01048475;ABBA01048476;ABBA01048477;ABBA01048478;ABBA01048479;AK127721;AK296395;AK299690;AL136293;AL137229;AMYH01006031;BC030791;BC136647;BC142667;BC142715;BC151230;BQ023338;CH471061;NM_001172631;NM_014844 AAI36648;AAI42668;AAI42716;AAI51231;BAA20757;BAA20787;BAC87100;BAG59063;BAG61595;EAW81787;EAW81788;EAW81789;EAW81790;NP_001166102;NP_055659;O15040 Hs.195667 1671983;1678683;1729686;1738947;2117256;2120162;2156786;2175544;5019819 A003P27;A009Y10;Bdab1d07;D14S56;D14S795;G27983;G32972;G35530;RH98923 KIAA0297;KIAA0329;SPG49 OTTHUMP00000246828;tectonin beta-propeller repeat-containing protein 2 protein-coding ENSG00000196663 19957 17184 615000;615031 VALIDATED 1604717 TECRL trans-2,3-enoyl-CoA reductase-like 4 4 4 q13.1 62604385 62735641 - 64826015 64957773 - 65144177 65275178 - 6480464 12477932;19913121;20628086;20379614;22446961 253017 D6RBZ3;E9PD39;H0Y9F0;Q5HYJ1 ABBA01022855;ABBA01022856;ABBA01022857;ABBA01022858;ABBA01022859;ABBA01022860;AC023110;AC023156;AK290606;AL833108;AMYH01014236;AMYH01014237;BC072463;BX647590;NM_001010874 AAH72463;BAF83295;CAI46063;CAI46109;NP_001010874;Q5HYJ1 Hs.227752 GPSN2L;MGC62104;SRD5A2L2;TERL OTTHUMP00000218713;OTTHUMP00000220145;glycoprotein, synaptic 2-like;steroid 5 alpha-reductase 2-like 2;steroid 5-alpha-reductase 2-like 2 protein;trans-2,3-enoyl-CoA reductase-like protein-coding 27365 18104 VALIDATED 1342531 TEK TEK tyrosine kinase, endothelial The TEK receptor tyrosine kinase is expressed almost exclusively in endothelial cells in mice, rats, and humans. This receptor possesses a unique extracellular domain containing 2 immunoglobulin-like loops separated by 3 epidermal growth factor-like repeats that are connected to 3 fibronectin type III-like repeats. The ligand for the receptor is angiopoietin-1. Defects in TEK are associated with inherited venous malformations; the TEK signaling pathway appears to be critical for endothelial cell-smooth muscle cell communication in venous morphogenesis. TEK is closely related to the TIE receptor tyrosine kinase. [provided by RefSeq, Jul 2008] 9 9 p21 27099286 27220172 + 27109147 27230172 + 1578525;1578527;1578531;1578533;1601490;1601505;1580863;1578337;1578345;1601487;1601489;1601493;1601494;1601496;634324;1601510;6480464;6907045;7240710 14512515;15743796;13130465;8980225;16951510;12737621;15714275;16389943;16917117;12814387;16714360;16284088;12768384;11919509;11397875 17258205;12419314;19167335;10766762;8382358;14665640;14749497;19515812;19487284;19351722;19339208;19223473;19186995;19116766;19082594;19079259;18996102;18807212;18675456;18593464;18570117;18519826;18425120;18425119;18401423;17901375;17728252;17724803;17704802;17562701;17513791;17504972;17446561;17327411;17322632;17035633;16978614;16978237;16956819;16895971;16830384;16756945;16723371;16614513;16458662;16457819;16157706;16049136;16037627;16020388;15985432;15893943;15893672;15817662;15802272;15781448;15769741;15746084;15536413;15377998;15370298;15340161;15297853;15242771;15210451;14991534;14991531;14726409;12887596;12878859;12816861;12731667;12711329;12665569;12609966;12477932;12427764;22465760;22621187;12138242;12107410;11967990;11866538;11824375;11733376;11513602;11080633;10995770;10557082;10521483;10369874;10051567;10022833;9764820;9723709;9710115;9660821;8980224;8980223;7835909;7833915;7829101;7783168;7545683;7478529;1312667;9204896;11689432;15542434;20519501;20602615;21400522;19888299;11470823;18269030;19340004;19421150;19424712;19451274;19543148;19576253;19615361;19674970;19689429;19733541;19875484;20026268;20054548;20056911;20099495;20164029;20227369;20379614;9632797;19922791;20191124;20348331;20098747;20301733;21832049;22728324;20696814;21042788;21173154;21273558;21212269;21321379;21368233;21097670;23149917;21525162;21672190;15284220;18366015;21884204;23190105;21366713;21576085;21858161;22235284;22585576;22342979;21849906;21962923;22449617;21575447;22326430;23566851;22848540;22996814;23086340;23382691;22836649;23123737;23504320 7010 E5RIV9;Q02763;Q59HG2 AB086825;AB208796;ABBA01065130;ABBA01065131;AK291775;AK294887;AK295043;AK308447;AL133411;AL355432;AL355433;AMYH01019295;AW020953;BC035514;CA392256;CH471071;DC322431;DC324016;EU826591;EU826592;H25908;L06139;NG_011828;NM_000459 AAA61139;AAH35514;ABM83048;ABW03349;ACF47627;ACF47628;BAC45250;BAD92033;BAF84464;BAG57981;BAG58094;EAW58571;EAW58572;NP_000450;Q02763 Hs.89640 1668076;1752667;1755577;2114142;2136860;5021638;5037291 G10657;RH68989;SHGC-106556;SHGC-12831;SHGC-142431;TEK;TEK_7888 CD202B;TIE-2;TIE2;VMCM;VMCM1 OTTHUMP00000021167;OTTHUMP00000227067;OTTHUMP00000227068;OTTHUMP00000227069;angiopoietin-1 receptor;endothelial tyrosine kinase;hTIE2;p140 TEK;soluble TIE2 variant 1;soluble TIE2 variant 2;tunica interna endothelial cell kinase;tyrosine kinase with Ig and EGF homology domains-2;tyrosine-protein kinase receptor TEK;tyrosine-protein kinase receptor TIE-2 APPROVED protein-coding ENSG00000120156 11724 02571 600195;600221 REVIEWED 1605945 TEFM transcription elongation factor, mitochondrial 17 17 17 26146916 26154211 - 26250127 26257412 - 29226001 29233286 - 6480464 19291764;17632510;16344560;12477932;11468690;10843809;8125298;21145461;16169070;20562859;21278163;21890473;23080069 79736 J3KTG7;Q96QE5 ABBA01014978;ABBA01014979;AC091177;AC130324;AF086465;AJ314645;AK026382;AK225474;AK298495;AMYH01008318;BC009025;BC024328;BC064631;BC073169;BQ003763;CH471147;CR457360;DA647699;NM_024683 AAH09025;AAH73169;BAB15468;BAG60703;CAC44534;CAG33641;EAW80290;EAW80291;EAW80292;NP_078959;Q96QE5 Hs.317340 1655729;1666421;1854775;2121826;2135360 NIB2009;RH69288;RH78093;RH78333;SHGC-35907 C17orf42;FLJ22729;MGC24674 hypothetical protein LOC79736;transcription elongation factor of mitochondria;transcription elongation factor, mitochondrial APPROVED protein-coding 26223 08005 VALIDATED 1314106 TECTB tectorin beta This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013] 10 10 10 q25-q26 107771025 107790599 + 114033483 114053060 + 114043493 114063070 + 1580863;6480464 15489334;15164054;12477932;9079715;22544735;16385451;20379614;22673945;7829101 6975 Q96PL2 ABBA01063006;AF312827;AL391986;AMYH01003074;AW021518;BC113497;BC113499;CH471066;NM_058222 AAI13498;AAI13500;AAL12829;ADR82948;EAW49542;NP_478129;Q96PL2 Hs.345485;Hs.348615 KIAA1560;MGC142057;MGC142059 OTTHUMP00000020488;beta-tectorin APPROVED protein-coding 11721 16005 602653 VALIDATED 2837580 TEKT4P1 tektin 4 pseudogene 1 Y Y q11.1 11769471 11830687 - 13309477 13314819 - 727768 ABBA01017938;AC134878;NG_023015 1694758;1786990;2111288;2153135 D17S837;G27368;G43582;SHGC-147299 pseudo 37711 INFERRED 733590 TECR trans-2,3-enoyl-CoA reductase This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] 19 19 19 p13.12 85160139 85188395 - 14501382 14537792 + 14640379 14676792 + 1298632;1580863;6480464 9653160 21145461;15847654;15489334;14702039;12482854;12477932;11042152;8944226;21212097;21163940;22939629;21182205;16196087;18781797;21139048;21890473;21906983;21987572;22118674;22505724 9524 B3KSQ1;B4DR74;M0QXM3;M0QXS1;M0R0N5;M0R2E5;M0R329;M0R372;M0R3C3;Q9NZ01 ABBA01029660;ABBA01029661;ABBA01029662;ABBA01029663;AC009004;AC010527;AC024585;AF038958;AF038959;AF222742;AK001416;AK094087;AK299134;AK315412;AMYH01009533;AMYH01009534;AMYH01009535;AMYH01009536;BC000174;BC002425;BC005384;BC005952;BC007801;BC013881;BC034484;BG705196;BT007179;CH471106;CR456892;DB491783;NG_028336;NM_138501;NR_038103;NR_038104 AAC39872;AAC39873;AAF32373;AAH00174;AAH02425;AAH05952;AAH07801;AAH13881;AAP35843;ABM82875;ABM86061;ACE87841;ACT64571;BAG37802;BAG50909;BAG52813;BAG61186;CAG33173;EAW84434;EAW84435;NP_612510;Q9NZ01 Hs.515642 1687325;2129685;2167529;2168763;2173505;2176816;2179691;5022322;5022450;5022578;5037552;5492303 D10S275;D11S2560;D1S1423;D8S2279;G34498;Gpsn2;RH70012;RH70771;RH92817;SHGC-24811;SHGC-24815;SHGC-50561 GPSN2;MRT14;SC2;TER glycoprotein, synaptic 2;trans-2,3-enoyl-CoA reductase;very-long-chain enoyl-CoA reductase APPROVED protein-coding ENSG00000099797 4551 17076 610057;614020 REVIEWED 6481919 TEKT4P3 tektin 4 pseudogene 3 2 131071513 131071984 - 100873355 ABBA01017956;AC068137;AMYH01011053;NG_032509 pseudo 42330 INFERRED 1345103 TEF thyrotrophic embryonic factor This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 22 22 22 q13.2 25569791 25601729 + 40107909 40125276 + 41763337 41795332 + 1580863;6480464 7835883;16344560;15665112;15489334;15461802;14702039;12805554;12477932;11258795;10799536;10591208;9891058;8639829;1916262;22257907;20396431;21347262 7008 H0Y797;Q10587 AB051442;ABBA01055630;ABBA01055631;ABBA01055632;ABBA01055633;AK091916;AK295595;AK314906;AL008582;AL035659;AL122101;AMYH01012802;BC021980;BC039258;BC042476;BX537848;CH471095;CR456592;CR541827;DA213449;DA238847;DA243618;HM370396;NM_001145398;NM_003216;R38583;U06935;U44059 AAA81373;AAB06497;AAH39258;AAH42476;ABM84707;ABM92228;ADM86749;BAB33325;BAG37419;BAG52441;BAG58485;CAD97856;CAG30478;CAG46626;CAK54623;CAK54922;EAW60430;EAW60431;NP_001138870;NP_003207;Q10587 Hs.181159 1677124;1681338;1688219;1768685;1772569;2109931;5022578;5022651;5037552 D11S2921;D1S1423;D8S2279;RH11229;RH11259;RH66783;RH93258;TEF_8672;WI-20437 KIAA1655 OTTHUMP00000198829;OTTHUMP00000198830;thyrotroph embryonic factor APPROVED protein-coding ENSG00000167074 11722 01783 188595 REVIEWED 1348520 TELAB1 telangiectasia, benign 1 7240710 338411 1336355 D5S641 20680 732609 TEKT1 tektin 1 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 17 17 17 p13.1 6729093 6760865 - 6644024 6675784 - 6703300 6735060 - 1580863;6480464 12477932;15489334;12029069;11606253;20379614;20442750;18029348 83659 F5GZX2;I3L122;I3L357;I3L3D4;Q969V4 ABBA01054838;AC034305;AF357879;AK292818;AK304345;AMYH01008061;BC014599;CH471108;NM_053285 AAH14599;AAL27695;ABM81705;ABM84864;BAF85507;BAG65189;EAW90284;EAW90285;NP_444515;Q969V4 Hs.462108 OTTHUMP00000128240;tektin-1 APPROVED protein-coding 15534 10611 609002 REVIEWED 1322323 TEKT2 tektin 2 (testicular) This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 1 1 1 p34.3 34824094 34828294 + 36322263 36326463 + 36549676 36553876 + 1580863;6480464 18227105;16710414;15489334;15340058;12477932;12029069;11751288;18029348 27285 E9PRS9;H0YD25;Q9UIF3 AB033823;ABBA01023317;AF054910;AK313610;AL138787;AMYH01000492;BC022005;BC035620;CH471059;NM_014466 AAC09343;AAH35620;ABM82968;ABM82984;ABM86160;BAA89350;BAG36373;EAX07391;EAX07392;NP_055281;Q9UIF3 Hs.127111 5492283 Tekt2 TEKTB1;TEKTIN-T;h-tektin-t OTTHUMP00000008927;tektin-2;tektin-B1;testicular tektin B1-like protein APPROVED protein-coding ENSG00000092850 11725 16410 608953 REVIEWED 6904337 TEN1-CDK3 TEN1-CDK3 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring TEN1 telomerase capping complex subunit homolog (S. cerevisiae) and cyclin-dependent kinase 3 (CDK3) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Oct 2011] 17 q 73975298 74002080 + 14702039;20967262 100529145 ABBA01028762;ABBA01028763;ABBA01028764;ABBA01028765;AC040980;AK097104;AMYH01008636;BX647274;NR_037709 Hs.706766 1684882;1739655 D17S1728E;RH94374 C17orf106-CDK3 APPROVED miscrna 44420 VALIDATED 1605283 TEKT5 tektin 5 16 16 16 p13.13 10890682 10958126 - 10628862 10696303 - 10721361 10788802 - 6480464 14702039;12477932;20379614;23568457;21822266 146279 I3L1F7;Q96M29 ABBA01006795;AC007595;AK057433;AMYH01007152;BC041081;BC130336;BC130338;CH471112;HC007330;NM_144674 AAI30337;AAI30339;ADR83195;BAB71484;CBH19470;EAW85179;NP_653275;Q96M29 Hs.143519 1680375;1761775 RH92336;SHGC-145739 FLJ32871;MGC163208;MGC163210 OTTHUMP00000160169;tektin-5 protein-coding ENSG00000153060 26554 08736 PROVISIONAL 5132676 TEKT4P2 tektin 4 pseudogene 2 21 p11.2 9907189 9968593 - 6480464 17213182;12477932;14702039;15252450;15489334;15498874;15881666;16549056 100132288 AA453722;AA863253;AMYH01012126;BC008921;BC073934;CA414639;CR381535;CR392039;DQ786282;DT217039;NR_038327;NR_038328;NR_038329 AAH73934 Hs.487562;Hs.626311 1694758;1786990;2111288;2153135 D17S837;G27368;G43582;SHGC-147299 FLJ00219;FLJ35473;FLJ39633;MAFIPL;MGC90442;TEKT4P APPROVED pseudo 40046 VALIDATED 1321573 TEKT3 tektin 3 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 17 17 17 p12 15231709 15269545 - 15147854 15185624 - 15207129 15244958 - 1580863;6480464 15489334;14735490;14702039;12477932;11381029;8125298 64518 F5GZV8;F5H115;F5H4K1;F5H5M8;J3KPT7;Q9BXF9 ABBA01055041;AC005703;AF334676;AK057390;AK223534;AK314327;AMYH01008130;BC031688;CH471108;HC007328;NM_031898 AAH31688;AAK15340;ABM82722;ABM85905;BAB71464;BAD97254;BAG36974;CBH19469;EAW89942;EAW89943;EAW89944;NP_114104;Q9BXF9 Hs.414648 1336435;1715733 D17S122;RH119313 FLJ32828 OTTHUMP00000064926;OTTHUMP00000064927;OTTHUMP00000236624;tektin-3;testicular microtubules-related protein APPROVED protein-coding ENSG00000125409 14293 18173 612683 REVIEWED 1604519 TEKT4 tektin 4 2 2 2 q11.1 89887633 89892969 + 94900959 94906295 + 95537232 95542568 + 6480464 16189514;15815621;15489334;14702039;12477932;17207965;22774605 150483 E7EVC1;Q8WW24 ABBA01003580;AC097374;AK097438;AMYH01010682;BC021716;CH471219;NM_144705 AAH21716;AAX88873;ADQ32428;EAX10701;EAX10702;NP_653306;Q8WW24 Hs.631517 MGC27019 OTTHUMP00000160945;tektin-4 protein-coding ENSG00000163060 31012 14518 PROVISIONAL 1312224 TENM4 teneurin transmembrane protein 4 11 11 11 q14.1 75672814 76460814 - 78041976 78200833 - 78364328 79151695 - 6480464 16554811;14702039;12168954;12000766;10718198;10625539;21145461;17903297;18711365;20379614;20602751;21926972;23251661;23393555;23453885 26011 E9PPG4;H0YCJ4;H0YCW4;Q6N022 AB037723;ABBA01017397;ABBA01017398;ABBA01017399;ABBA01017400;AK023935;AK056531;AK127101;AK127705;AK309124;AL080120;AMYH01003829;AMYH01003830;AMYH01003831;AMYH01003832;AMYH01003833;AP000610;AP001547;AP001838;AP002515;AP002768;AP002957;AP002958;BX537983;BX640737;DR000247;EG328205;HE578286;HE578287;HE601753;JN857068;NM_001098816 AAI72403;AEW27159;BAA92540;BAB71206;CAB45719;CAD97943;CAE45850;CCD17870;CCD17871;CCE12274;NP_001092286;Q6N022 Hs.213087 1334993;1338869;1338980;1340922;1650827;1661125;1680208;1683315;1695812;1695926;1719405;1729678;1731555;1737067;1737661;1738163;1750841;1754301;1756765;1757475;1763359;1765735;1766265;1766555;1774549;1776510;1782280;1848950;1849877;2111388;2115898;2121049;2125499;2154041;2165574;2173990;2174700;2217686;7185109;7186123 AFM203vg1;AFMa140wa9;D11S1027;D11S1262;D11S1281;D11S1352;D11S1976;D11S2226E;D11S2380;D11S2821;D11S3268;D11S3794;D11S3968;D11S4166;D11S4172;D11S4620;D11S4656;D11S862;D11S918;D11S980E;ODZ4_3312;RH123483;RH91134;SHGC-104507;SHGC-112402;SHGC-132323;SHGC-143894;SHGC-144849;SHGC-147083;SHGC-149167;SHGC-149621;SHGC-149869;SHGC-30999;SHGC-78882;SHGC-82573;STS-M55683;STS-T94418;WI-21054 Doc4;FLJ99165;ODZ4;TNM4;Ten-M4 OTTHUMP00000234170;odd Oz/ten-m homolog 4;odz, odd Oz/ten-m homolog 4;protein Odd Oz/ten-m homolog 4;ten-4;tenascin-M4;teneurin-4 APPROVED protein-coding ENSG00000149256 29945 610084 VALIDATED 2801979 TEN1 TEN1 CST complex subunit C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009] 17 17 q25.1 70565337 70586706 + 73975298 73996667 + 6480464 22763445;16344560;12477932;14702039;19854130;8125298;20360068 100134934 K7EIL0;K7EJS2;K7EL09;Q86WV5 ABBA01028762;ABBA01028763;ABBA01028764;ABBA01028765;AC040980;AMYH01008636;BC047782;BX648576;DB216497;FJ790671;NM_001113324 AAH47782;ACY71128;NP_001106795;Q86WV5 Hs.593566 1684882 RH94374 C17orf106;DKFZp686C0493;DKFZp686G1463;FLJ39785;MGC54300 CST complex subunit TEN1;OTTHUMP00000163541;TEN1 telomerase capping complex subunit homolog;protein telomeric pathways with STN1 homolog;telomere length regulation protein TEN1 homolog;telomeric pathways in association with Stn1 number 1;telomeric pathways in association with Stn1, number 1 APPROVED protein-coding ENSG00000257949 37242 613130 VALIDATED 732274 TENM2 teneurin transmembrane protein 2 5 5 5 q34 162750499 163726534 + 167114519 167623740 + 166711843 167691162 + 6480464 18927281;17081983;15372022;14702039;12783990;10737800;10625539;10574461;10225957;22610502;20379614;21139048;22229870;22699663;23000965 57451 F5H2D1;F8VNQ3;G3V106;H7BYZ1;Q9NT68 AB032953;ABBA01044133;ABBA01044134;ABBA01044135;ABBA01044136;ABBA01044137;ABBA01044138;ABBA01044139;ABBA01044140;ABBA01044141;ABBA01044142;ABBA01044143;ABBA01044144;ABBA01044145;ABBA01044146;AC008464;AC008601;AC008634;AC008637;AC008642;AC008705;AC008708;AC011369;AC011384;AC026689;AC091820;AC093304;AC113372;AK056053;AK293262;AK302302;AL137500;AMYH01015785;AMYH01015786;AMYH01015787;AMYH01015788;AMYH01015789;AMYH01015790;AMYH01015791;AMYH01015792;BF950845;BQ774782;BX648178;CR936703;HE578282;HE578283;NM_001122679 AAI72353;BAA86441;BAG56794;BAG63642;CAB70774;CCD17866;CCD17867;NP_001116151;Q9NT68 Hs.631957 1331600;1335175;1335954;1340536;1650239;1651531;1663462;1664113;1670888;1694798;1695486;1695970;1707450;1717271;1749127;1749739;1753405;1760889;1761667;1763305;1769180;1781064;1781070;1781074;1785368;1785508;1847014;1856843;2135735;2146920;2149519;2168516;2170225;2170286;2172706;2183582;2185608;2186691;2217684;5014876;7183795 A004A45;CHLC.GCT10G10;D5S1458;D5S1471;D5S1888;D5S2458;D5S496;D5S619;D5S805;G16914;G18151;G19199;G28629;G43625;L18086;ODZ2_3320;RH11035;RH122050;RH77908;RH78971;SHGC-107168;SHGC-110807;SHGC-111408;SHGC-13056;SHGC-132122;SHGC-13752;SHGC-144555;SHGC-145647;SHGC-147036;SHGC-154041;SHGC-23892;SHGC-68636;SHGC-78928;SHGC-84519;WI-22163;WI-22532;WI-3815;bac5967T;bac5977T;bac5992T DKFZp686A1568;ODZ2;TEN-M2;TNM2 OTTHUMP00000222933;OTTHUMP00000222980;OTTHUMP00000225219;neurestin alpha;odd Oz/ten-m homolog 2;odd oz/ten-m homolog 2 (drosophila);odz, odd Oz/ten-m homolog 2;protein Odd Oz/ten-m homolog 2;ten-2;tenascin-M2;teneurin 2;teneurin-2 APPROVED protein-coding ENSG00000145934 29943 610119 INFERRED 1605097 TELO2 telomere maintenance 2 This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009] 16 16 16 p13.3 1755633 1772735 + 1483423 1500456 + 1543352 1560460 + 6480464 17353931;18160036;11256614;18995830;17384638;16169070;15345747;14702039;12670948;12477932;11230166;11157797;9734811;20810650;20562859;20427287;17643375;20801936;20864032;22863883;23383273;20371770;21963094;21987572;18029348;21078624;21415862;21139048;21890473;21906983;22615925;22939629;22505724;22797925 9894 B4DXS2;H3BRS3;H3BU45;Q9Y4R8 AB014583;ABBA01030305;ABBA01030306;AE006467;AK001786;AK302103;AL031705;AL080126;AL137394;AMYH01007035;AMYH01007036;BC017188;BC028332;BQ446656;CH471112;DB494123;NM_016111 AAH17188;AAK61284;BAA31658;BAG50974;BAG63484;CAB45724;CAB70722;EAW85647;EAW85648;EAW85649;EAW85650;EAW85651;NP_057195;Q9Y4R8 Hs.271044 1685554;2120328;2146472;2180063;5091489 RH47871;RH48557;RH77910;RH93126;STS-AA025090 CLK2;DKFZp434A073;FLJ10924;KIAA0683;TEL2 OTTHUMP00000041764;TEL2, telomere maintenance 2, homolog;protein clk-2 homolog;telomere length regulation protein TEL2 homolog APPROVED protein-coding ENSG00000100726 29099 10016 611140 REVIEWED 1315371 TENM3 teneurin transmembrane protein 3 4 4 4 q35.1 180576661 181055801 + 183482131 183961171 + 183245137 183724177 + 6480464 15815621;14702039;14671302;11932239;10819331;10625539;10331952;15231748;20379614;21906983;22766609;22952603;23382691 55714 D6RGC5;H0YAF0;Q9P273 AB040888;ABBA01070489;ABBA01070490;ABBA01070491;ABBA01070492;ABBA01070493;AC079226;AC093601;AC105288;AC109353;AC131943;AF195420;AF484565;AK001336;AK001748;AK027473;AK125869;AK308489;AMYH01014757;AMYH01014758;AMYH01014759;AY405420;AY726602;AY736855;CH471056;HE578284;HE578285;NM_001080477 AAF28318;AAU84915;BAA91633;BAA91879;BAA95979;BAB55138;CCD17868;CCD17869;EAX04702;NP_001073946;Q9P273 Hs.130438 1299897;1696236;1712703;1712765;1735416;1846648;2119757;2125208;2145986;2160488;2162002;2183622 D4S1109;D4S2560E;D4S2592E;D4S3015;D4S600;D4S920;RH120096;RH121048;RH66442;SHGC-33237;SHGC-59689;SHGC-83594 FLJ10474;FLJ10886;KIAA1455;MCOPCB9;ODZ3;TNM3;Ten-m3 ODZ3-like protein;OTTHUMP00000218729;odd Oz/Ten-m homolog 3;odz, odd Oz/ten-m homolog 3;protein Odd Oz/ten-m homolog 3;ten-3;tenascin-M3;teneurin-3 APPROVED protein-coding ENSG00000218336 29944 610083 PROVISIONAL 1347709 TERF1P1 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 1 21 21 q11.2 14069746 14072904 + 15148407 15151133 + 348567 AL050303;AL109748;AL163204;AMYH01012135;NG_003158 TERF1P APPROVED pseudo 16733 INFERRED 3051183 TERF1P2 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 2 18 18 p11.21 14367249 14368762 - 14375941 14378762 - 646359 ABBA01074053;AMYH01008856;AP005212;NG_023014 pseudo 38110 INFERRED 3051190 TERF1P3 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 3 4 4 4 q28.3 134609510 134612337 - 137494106 137496942 - 137274665 137277492 - 646316 ABBA01044898;AC006572;AMYH01014555;NG_023005 pseudo 38499 INFERRED 1322097 TENC1 tensin like C1 domain containing phosphatase (tensin 2) The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 12 12 q13.13 51727077 51744430 + 53440810 53458163 + 6480464 16951145;17190795;19194507;17006924;16713569;15817639;15117958;12606711;12477932;12470648;11792844;10470851;20678486;19895840;20069572;19440389;19747564;22019427;21765928;21527831;21461930;21139048;21743057;22645138;16273093;21988832;23233134 23371 C9JVR1;F8VV64;H0YID7;Q8NFF9;R4GMX1 AB028998;ABBA01008312;ABBA01008313;AC068888;AF417490;AF518728;AF518729;AK131320;AK172747;AL137564;AMYH01004477;BC054099;BC110854;BC129828;BC129829;BC131503;BC142668;BC142712;BC150259;BX647126;CA306931;CH471054;CR936725;NM_015319;NM_170754;NM_198316 AAH54099;AAI10855;AAI29829;AAI29830;AAI31504;AAI42669;AAI42713;AAI50260;AAL14641;AAM74225;AAN03866;BAA83027;BAD18734;BAG54765;CAB70815;CAH56176;EAW96658;EAW96659;EAW96660;NP_056134;NP_736610;NP_938072;Q63HR2 Hs.343334;Hs.6147 1782740;1855641;2106711;2136935;2137587;2159902;2175197;2191787 BCD2163;MARC_7649-7650:996688053:1;RH11261;RH44510;RH48612;SHGC-156083;TENC1__5237;WI-21011 C1-TEN;C1TEN;DKFZp686D13244;FLJ16320;KIAA1075;TNS2 C1 domain-containing phosphatase and tensin homolog;OTTHUMP00000241959;OTTHUMP00000242033;OTTHUMP00000242038;OTTHUMP00000242045;OTTHUMP00000242102;OTTHUMP00000242137;tensin 2;tensin like C1 domain-containing phosphatase;tensin-2;tensin-like C1 domain-containing phosphatase APPROVED protein-coding ENSG00000111077 19737 16256 607717 REVIEWED 3418557 TERF1P4 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 4 X X X q21.1 83241229 83242505 - 82889110 82897991 - 83003833 83005109 - 648283 ABBA01041609;AL445306;AMYH01022656;NG_022613 1753329 SHGC-86167 pseudo 38500 INFERRED 5129410 TERF1P5 telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 5 13 13 13 q11 325380 328184 + 18143802 18155401 + 19254635 19257440 + 283523 ABBA01068526;AL359737;AMYH01004930;NG_011338 KIAA1785 pseudo 39686 INFERRED 1350445 TENM1 teneurin transmembrane protein 1 The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q25 123894317 124482247 - 123339504 123925347 - 123509753 124097666 - 1580863;6480464 10341219;10556288;16344560;15777793;15772651;15146197;14702039;12915301;12477932;12000766;10737800;10331952;9771704;21651764;22271700;22610502;22952603 10178 B7ZMH4;Q9UKZ4 ABBA01036460;ABBA01036461;ABBA01036462;ABBA01036463;ABBA01036464;ABBA01036465;ABBA01036466;ABBA01036467;ABBA01036468;ABBA01036469;ABBA01036470;ABBA01036471;ABBA01036472;ABBA01036473;ABBA01036474;ABBA01036475;ABBA01036476;ABBA01036477;ABBA01036478;ABBA01036479;ABBA01036480;ABBA01036481;ABBA01036482;ABBA01036483;ABBA01036484;ABBA01036485;ABBA01036486;ABBA01036487;ABBA01036488;ABBA01036489;ABBA01036490;ABBA01036491;ABBA01036492;ABBA01036493;ABBA01036494;ABBA01036495;ABBA01036496;ABBA01036497;ABBA01036498;ABBA01036499;ABBA01036500;ABBA01036501;ABBA01036502;ABBA01036503;ABBA01036504;ABBA01036505;ABBA01036506;ABBA01036507;ABBA01036508;ABBA01036509;ABBA01036510;ABBA01036511;ABBA01036512;ABBA01036513;ABBA01036514;ABBA01036515;ABBA01036516;ABBA01036517;ABBA01036518;ABBA01036519;AF100772;AI498402;AK055765;AL022718;AL023774;AL023878;AL031075;AMYH01022947;BC030766;BC140783;BC144542;BC144543;BE700315;BX457474;BX478232;BX506934;CF454574;CH471107;CN305715;DA217223;HE578281;NG_013249;NM_001163278;NM_001163279;NM_014253;Z81008;Z83823;Z85995;Z97629 AAF04723;AAI40784;AAI44544;CCD17865;EAX11846;NP_001156750;NP_001156751;NP_055068;Q9UKZ4 Hs.23796;Hs.744536 1340698;1648807;1694358;1694364;1694370;1701168;1702616;1748101;1748143;1781208;1781214;1789166;1796428;1855856;2126897;2130679;2133203;2147294;2148746;2153170;2156421;2160601;2165165;2176305;2176324;2177628;2182605;2184982;5092588;5092590;5092596;5094104;5094106;5095080 A007A29;AF020119;DXS1183;DXS1315;DXS7144;DXS7745;DXS7749;DXS7771;DXS7877;DXS8057;DXS8356;G42874;G42877;G42880;G54527;G54529;G54532;G54548;G54549;G65722;G66645;G66680;L77308;L77319;L77750;L77754;ODZ1;ODZ1_364;RH104212;RH71468;SHGC-60255;STS-T61382;stSG26602;stSG38425 ODZ1;ODZ3;TEN-M1;TNM;TNM1 OTTHUMP00000024333;odz (odd Oz/ten-m, Drosophila) homolog 3;odz, odd Oz/ten-m homolog 1;odz, odd Oz/ten-m homolog 1(Drosophila);protein Odd Oz/ten-m homolog 1;ten-1;tenascin M1;tenascin-M1;teneurin 1;teneurin-1 APPROVED protein-coding ENSG00000009694 8117 06669 300588 REVIEWED 1346237 TERF2IPP1 telomeric repeat binding factor 2, interacting protein pseudogene 1 22 22 22 q11.2 1520102 1522135 + 16277744 16283766 + 17897692 17899725 + 644899 ABBA01001448;AC004019;AMYH01012434;NG_017137 2150173 SHGC-60699 pseudo 19258 INFERRED 1602955 TEPP testis, prostate and placenta expressed 16 16 16 q21 42507657 42519348 + 56567840 56579521 + 58010339 58022020 + 6480464 14652002;12477932 374739 Q6URK8 ABBA01025288;AC010543;AMYH01007705;AY363222;AY363223;BC104458;BC104459;BF980073;BX647108;CH471092;NM_199046;NM_199456 AAI04459;AAI04460;AAR18688;AAR18689;EAW82959;EAW82960;NP_950247;NP_955535;Q6URK8 Hs.132976 MGC129930;MGC129931 OTTHUMP00000164668;testis, prostate and placenta-expressed protein;testis/prostate/placenta-expressed protein protein-coding 33745 15486 610264 VALIDATED 1353130 TERC telomerase RNA component Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008] 3 3 q26 170965092 170965542 - 169482398 169482848 - 2291968;2291974;2291964;2291967;2291975;2291972;2291970;2291966;2298557;2291986;2291969;2291973;2291965;2291971;6480464;7240710 15793301;10570439;17054308;16104909;9857231;11156238;14614009;16172460;14532990;17644139;14654933;11051224;16841302;12237877 19389503;19191295;19147845;19106100;19095616;18950640;18936525;18931339;18683270;18635888;18632625;18593932;18500353;18054989;17959928;17940095;17936651;17889662;17889661;17640862;17625368;17465827;17395830;17150918;17150759;17098743;16990594;16332973;16319170;16284252;16170363;16047476;16036112;15921388;15849264;15753647;15613268;15481329;15381700;15339688;15329831;15319288;15098033;14981093;12972604;12918126;12676774;12661034;12586348;12525685;12514136;12507925;12496479;12384594;12174094;12135483;12090986;12083802;11942411;11788719;11574891;11511096;10983983;10973255;10721988;10591218;10458601;9546436;9143511;8602368;7544491;15749017;22661914;22847419;12477932;19656952;19760749;19880826;19915151;19942288;20009881;20056641;20121548;20139977;20148555;20193234;20193600;20421499;21168289;20554853;20885959;20937264;20619302;20920335;21149580;21573004;21734364;18082603;21304559;22855562;22909227;21381227;21708826;22085966;21448143;22390679;22238380;22136229;22304389;22323451;22527283;20301779;22772461;18358808;23001564;23535734;22800828 7012 ABBA01058705;AC078802;AF047386;AF221907;AMYH01013640;BC128029;NG_016363;NR_001566;U85256;U86046 Hs.436182 1791338;1792338;1792444;1792574;1794754;1795066;1795068;2112704;2220540 D3S4415;PMC104358P1;PMC14826P1;PMC15121P1;PMC154048P3;PMC37545P1;PMC96692P1;PMC96692P2;UniSTS:484241 DKCA1;PFBMFT2;SCARNA19;TR;TRC3;hTR APPROVED miscrna ENSG00000200182;ENSG00000270141 11727 127550;602322;614743 REVIEWED 736009 TEP1 telomerase-associated protein 1 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. [provided by RefSeq, Jul 2008] 14 14 q11.2 19905766 19951420 - 20833826 20881579 - 1580863;6480464 12135483;10810353;7876352;19329795;18938767;18676680;17848914;16713569;14606063;12918126;12477932;11942411;11029039;10597287;10551828;9837921;9403057;9389643;9020079;19913121;20628086;15701761;19170196;19625176;19692168;19766477;20800603;20937264;21048031;22939629;21139048 7011 B4E0B6;G3V2A4;G3V470;G3V591;G3V5X7;H0YIY9;H0YIZ2;H0YJ53;H0YJF6;H0YJP8;Q99973 AB209669;ABBA01061225;ABBA01061226;ABBA01061227;AK303307;AL355075;AMYH01005587;BC126107;BC143812;BC143815;BX640983;CH471078;NM_007110;U86136 AAC51107;AAI26108;BAD92906;BAG64378;CAE45993;EAW66475;NP_009041;Q99973 Hs.508835 1334796;1699922;2109933;2167851;5014051;5021872;5022200;5037552;5115668;7185507 D14S261;D8S2278;D8S2279;G35564;L18426;RH103569;TEP1;TEP1__5238;sY3084 TLP1;TP1;TROVE1;VAULT2;p240 OTTHUMP00000028244;OTTHUMP00000244562;OTTHUMP00000244564;TROVE domain family, member 1;p80 telomerase homolog;telomerase associated protein 1;telomerase protein 1;telomerase protein component 1 APPROVED protein-coding ENSG00000129566 11726 03404 601686 REVIEWED 1323104 TERF1 telomeric repeat binding factor (NIMA-interacting) 1 This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008] 8 8 q21.11 74083661 74122281 + 73921097 73959987 + 1580863;2317221;2317222;2317220;6480464 19679647;18720522;20127252 16358369;11802774;22790221;9130722;12768206;11971978;15007108;16880378;7502076;16166375;11313893;19265708;19164295;18676680;18625707;18397896;18347021;18221737;18202258;18178559;17848914;17765874;17694070;17681636;17561506;17081983;17020976;16786598;16756990;16647572;16421973;16169070;15792519;15632001;15608617;15389875;15383534;15316005;15231748;15231715;15133513;15100233;14966275;14715659;14702039;12915656;12667345;12530079;12477932;12135354;16344560;16275645;12080061;12007281;11943150;11854288;11813863;11744712;11739745;11738049;11701125;11545737;11375976;10988299;10913111;10669743;10581025;9822378;9739097;9480811;9391075;9326950;9002672;8614633;8606777;1406665;15181449;11751684;11327863;11454873;15229185;15314656;15380063;17629495;18761675;19170196;19596237;19625176;19692168;19746267;19766477;19773453;19817957;19887064;20056641;20056655;20159592;20160025;20549820;9034193;19596784;19797051;20937264;21048031;20811636;20936779;20644899;19129235;21314979;12782650;21119197;21423270;17000763;20181953;21209389;17962804;19487455;21139048;21890473;21906983;22225189;22336916;21988832;22878603;22045740;22412388;22645305;21044950;22641345;22331467;18160036;20137830;22379092 7013 E5RFJ5;E7EWM7;P54274 ABBA01041960;AC022893;AF003001;AI218408;AK123410;AK292529;AMYH01018790;AY576778;BC014646;BC029378;BC071975;BF056993;CH471068;CX788828;DA658766;EU088287;NG_029121;NM_003218;NM_017489;U40705;U74382;X93511 AAB53363;AAB54036;AAB81137;AAH29378;AAT81150;ABM83499;ABM86715;ABV02580;BAF85218;CAA63768;EAW86990;EAW86991;EAW86992;EAW86993;EAW86994;NP_003209;NP_059523;P54274 Hs.442707 2164780;5037552 D8S2279;WI-15399 FLJ41416;PIN2;TRBF1;TRF;TRF1;hTRF1-AS;t-TRF1 NIMA-interacting protein 2;OTTHUMP00000226889;OTTHUMP00000226890;TTAGGG repeat-binding factor 1;telomeric protein Pin2/TRF1;telomeric repeat binding factor 1;telomeric repeat binding protein 1;telomeric repeat-binding factor 1 APPROVED protein-coding ENSG00000147601 11728 02975 600951 REVIEWED 1353510 TERT telomerase reverse transcriptase Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008] 5 5 p15.33 1306282 1348162 - 1253282 1295162 - 1580863;2291980;2291982;2291985;2291986;2291989;2291987;2291990;2291993;2291983;2291969;2291966;2291992;2298558;2298562;2298564;2291994;6480464;6484113;7240710 18250061;17961306;17644806;17644139;17273731;17616810;17108213;15798365;17848914;14654933;16172460;15010825;12168080;11078809;10652422;12915632 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8315900;18396642;18426652;19079992;19118576;19170196;19184104;19270495;19342980;19351506;19415276;19430894;19465454;19501078;19540557;19560862;19561322;19564073;19578747;19587531;19587703;19596972;19625176;19654303;19667936;19672873;19684619;19692168;19701182;19716824;19718948;19738429;19740745;19751963;19760749;19762557;19766477;19773453;19777057;19787269;19806010;19836008;19843528;19843693;19885561;19885612;19885868;19900100;19903097;19903789;19909010;19915151;19917726;19930867;19934306;19939248;19942288;19955392;19955841;20019239;20022961;20029802;20032382;20034955;20052289;20056641;20061363;20089117;20089118;20101243;20107884;20148555;20193600;20204286;20225759;20232301;20351177;20379614;20404094;20453000;20462933;20466886;20543847;20549820;22961627;22994782;23244087;23612978;21447096;21483807;20628269;21106948;20677553;20053684;20509972;19877284;20127252;20453884;20454512;20456367;20478107;20658629;18836306;20438356;20642823;20642319;19674077;20620128;20621064;21160077;19363487;20571066;20596673;20629177;20842112;15805468;19567472;20619095;20847058;20864512;20871597;20937264;21048031;21048121;21081471;21083788;17828505;19432820;20570912;20619302;20670406;21867613;22364217;22366458;22541081;22720091;22723897;22757972;17432359;20213664;20569236;21071633;20018236;20394835;20460502;20827769;20938050;21045143;19672770;20824134;20920335;20959453;21042751;21261472;22228261;22495810;22674533;22901192;22907755;22916267;23045155;20813962;21108695;21156006;20673788;21051362;21300782;21345332;21350045;21531791;17219990;21062413;18082603;20876690;21106093;21119197;21174371;18652315;20828816;20970818;22709411;22894902;23006849;23055531;23258901;22768805;23287597;20146105;21453684;21514196;21549308;21422235;21492065;21627565;20030916;21396644;21436073;21536653;21606328;21319134;21332924;21364010;21447332;21553236;21617256;20966039;19487455;21163063;21771723;22795327;23432846;23598174;23610451;23613397;21176348;21669490;20423850;21193962;21417995;23368278;23562653;21129250;21787851;20301408;20301779;23530248;21763315;20373052;22037553;21638208;21590772;22011238;21855630;21900196;21349926;21635204;21572399;21804459;21411498;21914494;21936563;21929825;22842823;23226346;23462332;23535731;23392802;23741361;22893708;21269955;21622582;21730156;21833675;21844345;21931702;21937513;21940498;21949400;21949822;21975338;21993562;22008847;22110753;22197555;22226966;22240313;22253524;20963938;22243975;22316341;22539396;22547674;22872929;19224688;22221621;22353550;22723415;21448143;21526393;21575461;21725308;21743467;21743490;21796628;21827660;21961244;21982438;21983787;22041560;22108091;22108635;22125638;22134622;22152854;22178426;22210010;22370939;22455872;22512499;22472071;23106581;22516689;22750441;22886559;22925336;23362280;22957790;23221128;23603390;22765508;23326372;23326460;23538340;23585473;22933702;23076205;22878603;23065203;23110161;23057360;23065534;23284306;22893025;23143601;23335200;23082138;22505341;22517724;22559196;23284695;20139322;22749911;22787205;22797925;22854964;23137523;22464057;22664374;22902867;23107094;23348503;23348506 7015 O14746;Q8NG38 AB016767;AB018788;AB085628;AB086379;AB086950;ABBA01034206;ABBA01034207;AC114291;AF015950;AF018167;AF097365;AF098956;AF114847;AF121948;AF128893;AMYH01014856;AMYH01014857;AX810036;AX810378;AY007685;BC062321;CH471102;CS469081;CS542611;DQ264729;HD121737;JF896280;JF896282;JF896283;JF896284;JF896285;NG_009265;NM_001193376;NM_198253 AAC40212;AAC51672;AAC51724;AAD12057;AAD12786;AAD17210;AAD24464;AAD30037;AAG23289;AAI56389;AAI72541;ABB72674;AEF12311;AEF12312;BAA74724;BAA78344;BAC11010;BAC11014;BAC11015;CAE75638;CAE75644;CAM33584;CAM91189;CBW46529;EAX08165;EAX08166;EAX08167;EAX08168;EAX08169;EAX08170;EAX08171;NP_001180305;NP_937983;O14746 Hs.492203 1791970;1792884;1793326;1795164 PMC133987P6;PMC166208P1;PMC209426P1;PMC99947P1 CMM9;DKCA2;DKCB4;EST2;PFBMFT1;TCS1;TP2;TRT;hEST2;hTRT OTTHUMP00000115415;OTTHUMP00000220871;telomerase catalytic subunit;telomerase reverse transcriptase;telomerase-associated protein 2 APPROVED protein-coding ENSG00000164362 11730 01754 187270;601626;613989;614742;615134 REVIEWED 732889 TESK1 testis-specific kinase 1 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. [provided by RefSeq, Jul 2008] 9 9 9 p13 35538842 35543599 + 35595281 35600038 + 35605281 35610038 + 61764;1580863;1300048;6480464 8537404 12027893;18216281;15817463;12477932;11555644;11418599;11294912;10512679;10207045;11340065;17974561;20237496;9655398 7016 Q15569;Q8NFJ4 ABBA01064989;AF452589;AF479317;AF507907;AF507908;AF507909;AF521045;AF521046;AF521047;AF521049;AK298907;AL357874;AMYH01019347;BC011799;BC037561;BC038448;BC067130;CH471071;D50863;NM_006285 AAH38448;AAH67130;AAL49755;AAL84790;AAM50515;AAM50516;AAM50517;AAM77907;AAM77908;AAM77909;AAM77911;ABM84253;ABM87642;BAA09459;BAG61015;EAW58374;EAW58375;NP_006276;Q15569 Hs.708096 1677318;2106713;2106981;2185528;5491999 CD72_7759;D11S4618;RH26484;TESK1-1;TESK1__5239 OTTHUMP00000021332;dual specificity testis-specific protein kinase 1;testicular protein kinase 1;testis specific protein kinase 1 APPROVED protein-coding ENSG00000107140 11731 03470 601782 REVIEWED 1322035 TERF2 telomeric repeat binding factor 2 This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008] 16 16 q22.1 67947032 67977374 - 69389464 69419874 - 1580863;6480464 18212065;14690602;12181313;17395247;15007108;17499040;10338214;18029348;10888888;15181449;16880378;16166375;17055345;19287395;19285750;18812185;18761675;18676680;18621559;18593705;18468965;18309533;18202258;18197706;18178559;18056407;18025071;17848914;17681636;17670947;17081983;17052985;16964243;16786598;16647572;16223874;15735711;15665826;15632001;15608617;15520325;15489334;15383534;15316005;15314656;15302935;15292264;15265990;15229185;15100233;15005708;14749375;14741354;20061197;14565979;14513051;12915884;12768206;12702777;12530079;12477932;12417987;11971978;11938440;11923537;11577237;11545737;11112778;10984620;10850490;10669743;10570139;10226653;9476899;9326951;9326950;8614633;15893730;19164295;19505873;20655466;15149599;15657433;16606622;18422278;19170196;19375317;19398584;19399616;19596235;19596236;19625176;19651898;19692168;19716786;19766477;19773453;19783902;19817957;19996277;20028875;20056641;20200249;20201926;20407424;20549820;22841872;19596784;19797051;20937264;21048031;20127252;19363487;20811636;20571083;20644899;21057505;21217703;21423270;21423278;22939629;21824286;21209389;21395184;20625812;20360068;21139048;21693764;21890473;21906983;22336916;18818083;19322201;21044950;22536324;22704123;23086976;19329795;16730175;22878603;23000965;23383273;23172421;18418389;22780456;22821339 7014 H3BR06;H3BR37;H3BTA7;J3KSJ9;J3KSZ6;J3KTN8;Q15554 ABBA01025527;AC026464;AF002999;AMYH01007767;BC024890;BX090758;CB216181;CH471092;HY046320;NM_005652;U95970;X93512 AAB81135;AAD00821;AAH24890;CAA63769;EAW83273;EAW83274;NP_005643;Q15554 Hs.63335 1675678;1688957;1715273;1796922;2143012;5015619;5022651;5037552 D11S2921;D11S3114;D8S2279;RH119887;RH65061;RH65311;SHGC-60576;TERF2_1083 TRBF2;TRF2 OTTHUMP00000174887;TTAGGG repeat-binding factor 2;telomeric DNA-binding protein;telomeric repeat binding protein 2;telomeric repeat-binding factor 2 APPROVED protein-coding ENSG00000132604 11729 03610 602027 REVIEWED 1626694 TET1P1 tet methylcytosine dioxygenase 1 pseudogene 1 13 13 13 q31.2 69383499 69386953 - 87340428 87342734 - 88542198 88545652 - 441662 ABBA01027271;AL445647;AMYH01005271;NG_006594 CXXC6P1 APPROVED pseudo 33586 INFERRED 1320161 TERF2IP telomeric repeat binding factor 2, interacting protein The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010] 16 16 q23.1 74239185 74248829 + 75681635 75691340 + 1580863;6480464 14690602;10850490;17055345;17499040;15100233;18029348;15181449;16880378;16166375;18922916;18580452;19164295;19505873;22902628;22511766;16964243;16189514;15838871;15498874;15489334;15383534;15302935;14702039;14565979;12768206;12477932;11545594;10888888;15316005;20032304;20622869;20622870;12845325;19596235;19651898;19766477;19773453;19844255;20039365;20056641;20407424;20061197;17207965;20937264;21315259;21669874;21217703;22863883;22939629;23086976;21209389;21423278;21628423;22242598;19471022;21139048;21693764;21890473;21906983;21044950;23241957 54386 H3BMI8;H3BR63;Q9NYB0 AA769291;ABBA01017057;AC025287;AF250393;AF262988;AF289599;AK000669;AK298880;AK307901;AMYH01007821;BC004465;BC005841;BC016739;BC022428;BC078171;CH471114;NM_018975 AAF72711;AAH04465;AAH05841;AAH22428;AAH78171;AAL55783;AAQ14259;ADQ32745;BAA91317;BAG60996;EAW95616;EAW95617;EAW95618;NP_061848;Q9NYB0 Hs.301419 1647682;1678477;1700656;1796920;2138382;2150173;5119227 D16S2999E;RH103951;RH65172;SHGC-60699;SHGC-60818;SHGC-61067;TERF2IP_1085 DRIP5;RAP1 RAP1 homolog;TERF2-interacting telomeric protein 1;TRF2-interacting telomeric RAP1 protein;TRF2-interacting telomeric protein 1;dopamine receptor interacting protein 5;dopamine receptor-interacting protein 5;hRap1;repressor/activator protein 1 homolog;telomeric repeat-binding factor 2-interacting protein 1 APPROVED protein-coding ENSG00000166848 19246 05452 605061 REVIEWED 1606266 TESC tescalcin 12 12 12 q24.22 117106248 117166769 - 115961111 116021634 - 117476728 117537251 - 6480464 16189514;18321853;15489334;14661968;12809501;12477932;11696366;11145610;8889548;17717601;19345287;20060826;21890473;21906983;22984264 54997 E9PQ58;H0YIX4;J3KPN1;Q96BS2 ABBA01020024;ABBA01020025;AC026368;AF443207;AI372964;AI910454;AK000614;AMYH01004781;AMYH01004782;BC015221;BE670015;BM666793;BQ434057;BQ949772;CH471054;DB452909;NM_001168325;NM_017899;NR_031766 AAH15221;AAL35615;ABM85570;BAA91288;EAW98098;EAW98099;EAW98100;EAW98101;NP_001161797;NP_060369;Q96BS2 Hs.525709 1675883;1688734;1710568;1764941 RH76322;RH91363;SHGC-148494;SHGC-82386 CHP3;FLJ20607;TSC OTTHUMP00000185561;OTTHUMP00000233139;calcineurin B homologous protein 3;calcineurin-like EF hand protein 3;tescalcin protein-coding ENSG00000088992 26065 11649 611585 VALIDATED 1605107 TESPA1 thymocyte expressed, positive selection associated 1 12 12 12 q13.2 54995725 55030320 - 53630196 53661889 - 55342087 55378530 - 6480464 12477932;9872452;19913121;20628086;23541577;23501103;22505724 9840 A2RU30;E9PHY9;E9PIN8;E9PIT9;E9PM24;E9PN46;E9PPW8;H0YDP3;H0YEX3 AB018291;ABBA01008377;ABBA01008378;AC079842;AF161375;AK295026;AK298405;AK303223;AK315972;AMYH01004491;AW967924;BC037220;BC044578;BC132732;BC132734;CH471054;NM_001098815;NM_001136030;NM_001261844;NM_014796 A2RU30;AAF28935;AAH44578;AAI32733;AAI32735;BAA34468;BAG58082;BAG60635;BAG64310;BAH14343;EAW96796;EAW96798;EAW96799;EAW96800;EAW96801;EAW96802;NP_001092285;NP_001129502;NP_001248773;NP_055611 Hs.33187 1648352;1685263;1736264 D12S1221E;RH92746;WI-16263 HSPC257;KIAA0748 OTTHUMP00000229600;OTTHUMP00000229601;OTTHUMP00000229602;hypothetical protein LOC9840;protein TESPA1;thymocyte-expressed positive selection-associated protein 1;uncharacterized protein KIAA0748 APPROVED protein-coding ENSG00000135426 29109 VALIDATED 1603311 TES testis derived transcript (3 LIM domains) Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011] 7 7 q31.2 115637817 115686073 + 115850547 115898837 + 6480464 22156939;19289703;18158903;17296370;15662727;15656790;15489334;15252854;14702039;12853948;12810672;12695497;12690205;12571287;12477932;11420696;11377796;10950921;10704826;9045675;8125298;12639940;18799041;20573277;20626849;18696217;20180808;18029348;21278383;22863883;22939629;22957844;21843504;20360068;21275903;21139048;21890473;21906983;22201996;19322201 26136 A4D0U5;B7Z6L5;F8W7T0;F8WDI4;H7BYK1;Q9UGI8 AACC02000001;ABBA01057811;AC073130;AF147329;AF245356;AF245357;AF260225;AJ250865;AK021575;AK222840;AK291802;AK299104;AK300546;AK309324;AK310995;AK315644;AL050162;AMYH01017880;BC001451;BC040208;BC045580;CH236947;CH471070;DC341259;GQ423971;NM_015641;NM_152829 AAG17612;AAG17613;AAG17635;AAG17636;AAH01451;AAQ93367;ABW03495;ABW03803;ACV74338;BAB13846;BAD96560;BAF84491;BAG38011;BAH12951;BAH13301;CAB43302;CAB65119;EAL24364;EAL24365;EAW83494;EAW83495;EAW83496;EAW83497;NP_056456;NP_690042;Q9UGI8 Hs.592286;Hs.664957 1339905;1683471;1697666;1712144;1735640;1754505;1776266;1779814;1786306;1798786;1800640;1801564;1802108;1802346;1802658;1804540;1804594;1804672;1805648;1805766;1806314;1808490;1808718;1809060;1810096;1811132;1811502;1811682;1812070;1812280;1812554;1813220;1813372;1813446;1814108;1814402;1816358;1816442;1816968;1817198;1819370;1819772;1820458;1820460;1821576;1822154;1822348;1825964;1827284;1828514;1828948;1831070;1834034;1838306;1840048;1840236;1845972;1846382;1993690;1993692;1993694;1993696;1993698;1993700;1993702;1993704;1993706;1993708;1993710;1993712;1993714;1993716;1993718;1993720;1993722;1993724;1993726;1993728;1993730;1993732;1993734;1993736;1993738;1993740;1993742;1993744;1993746;1993748;1993750;1993752;1993754;1993756;1993758;1993760;1993762;1993764;1993766;1993768;1993770;1993772;1993774;1993776;1993778;1993780;1993782;1993784;1993786;1993788;1993790;1993792;1993794;1993796;1993798;1993800;1993802;1993804;1993806;1993808;1993810;1993812;1993814;1993816;1993818;1993820;1993822;1993824;1993826;1993828;1993830;1993832;1993834;1993836;1993838;1993840;1993842;1993844;1993846;1993848;1993850;1993852;1993854;1993856;1993858;1993860;1993862;1993864;1993866;1993868;1993870;1993872;1993874;1993876;1993878;1993880;1993882;1993884;1993886;1993888;1993890;1993892;1993894;1993896;1993898;1993900;1993902;1993904;1993906;1993908;1993910;1993912;1993914;1993916;1993918;1993920;1993922;1993924;1993926;1993928;1993930;1993932;1993934;1993936;1993938;1993940;1993942;1993944;1993946;1993948;1993950;1993952;1993954;1993956;1993958;1993960;1993962;1993964;1993966;1993968;1993970;1993972;1993974;1993976;1993978;1993980;1993982;1993984;1993986;1993988;1993990;1993992;1993994;1993996;1993998;1994000;1994002;1994004;1994006;1994008;1994010;1994012;1994014;1994016;1994018;1994020;1994022;1994024;1994026;1994028;1994030;1994032;1994034;1994036;1994038;1994040;1994042;1994044;1994046;1994048;1994050;1994052;1994054;1994056;1994058;1994060;1994062;1994064;1994066;1994068;1994070;1994072;1994074;1994076;1994078;2092856;2092858;2092860;2092862;2092864;2092866;2092868;2092870;2092872;2092874;2092876;2092878;2092880;2092882;2092884;2092886;2092888;2092890;2092892;2092894;2092896;2092898;2092900;2092902;2092904;2092906;2092908;2092910;2092912;2092914;2092916;2092918;2092920;2092922;2185810;5017935;5037552;7185302 D7S2054E;D7S2886;D7S486;D8S2279;ECD00233;ECD01181;ECD01660;ECD01936;ECD02057;ECD02216;ECD03199;ECD03229;ECD03268;ECD03774;ECD03834;ECD04112;ECD05227;ECD05341;ECD05517;ECD06040;ECD06564;ECD06751;ECD06845;ECD07040;ECD07147;ECD07287;ECD07630;ECD07707;ECD07744;ECD08083;ECD08230;ECD09221;ECD09263;ECD09533;ECD09649;ECD10752;ECD10956;ECD11304;ECD11305;ECD11874;ECD12163;ECD12262;ECD14091;ECD14757;ECD15384;ECD15601;ECD16671;ECD18165;ECD20327;ECD21208;ECD21302;ECD24206;ECD24411;G54122;REN67752;REN67753;REN67754;REN67755;REN67756;REN67757;REN67758;REN67759;REN67760;REN67761;REN67762;REN67763;REN67764;REN67765;REN67766;REN67767;REN67768;REN67769;REN67770;REN67771;REN67772;REN67773;REN67774;REN67775;REN67776;REN67777;REN67778;REN67779;REN67780;REN67781;REN67782;REN67783;REN67784;REN67785;REN67786;REN67787;REN67788;REN67789;REN67790;REN67791;REN67792;REN67793;REN67794;REN67795;REN67796;REN67797;REN67798;REN67799;REN67800;REN67801;REN67802;REN67803;REN67804;REN67805;REN67806;REN67807;REN67808;REN67809;REN67810;REN67811;REN67812;REN67813;REN67814;REN67815;REN67816;REN67817;REN67818;REN67819;REN67820;REN67821;REN67822;REN67823;REN67824;REN67825;REN67826;REN67827;REN67828;REN67829;REN67830;REN67831;REN67832;REN67833;REN67834;REN67835;REN67836;REN67837;REN67838;REN67839;REN67840;REN67841;REN67842;REN67843;REN67844;REN67845;REN67846;REN67847;REN67848;REN67849;REN67850;REN67851;REN67852;REN67853;REN67854;REN67855;REN67856;REN67857;REN67858;REN67859;REN67860;REN67861;REN67862;REN67863;REN67864;REN67865;REN67866;REN67867;REN67868;REN67869;REN67870;REN67871;REN67872;REN67873;REN67874;REN67875;REN67876;REN67877;REN67878;REN67879;REN67880;REN67881;REN67882;REN67883;REN67884;REN67885;REN67886;REN67887;REN67888;REN67889;REN67890;REN67891;REN67892;REN67893;REN67894;REN67895;REN67896;REN67897;REN67898;REN67899;REN67900;REN67901;REN67902;REN67903;REN67904;REN67905;REN67906;REN67907;REN67908;REN67909;REN67910;REN67911;REN67912;REN67913;REN67914;REN67915;REN67916;REN67917;REN67918;REN67919;REN67920;REN67921;REN67922;REN67923;REN67924;REN67925;REN67926;REN67927;REN67928;REN67929;REN67930;REN67931;REN67932;REN67933;REN67934;REN67935;REN67936;REN67937;REN67938;REN67939;REN67940;REN67941;REN67942;REN67943;REN67944;REN67945;REN67946;RH102348;RH93965;SHGC-132779;SHGC-153784;SHGC-154074;STS-N27265;Tes;stSG597739;stSG597741;stSG597742;stSG597743;stSG597744;stSG597745;stSG597746;stSG597747;stSG597748;stSG597749;stSG597751;stSG597752;stSG597753;stSG597754;stSG597756;stSG597757;stSG597758;stSG597759;stSG597760;stSG597762;stSG597763;stSG597764;stSG597765;stSG597766;stSG597768;stSG597769;stSG597770;stSG597771;stSG597772;stSG597773;stSG597774;stSG597776;stSG597777;stSG597778 DKFZp586B2022;MGC1146;TESS;TESS-2 OTTHUMP00000024710;OTTHUMP00000068810;testin APPROVED protein-coding ENSG00000135269 14620 05833 606085 REVIEWED 734237 TESK2 testis-specific kinase 2 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. [provided by RefSeq, Jul 2008] 1 1 1 p32 44092931 44240161 - 45582142 45729427 - 45809555 45956840 - 1580863;6480464 15489334;14702039;12477932;11418599;10512679;11555644;16344560;18029348;11340065;9655398 10420 B4DYL6;F5GWP9;Q96S53 AB057597;ABBA01050870;ABBA01050871;ABBA01050872;ABBA01050873;ABBA01050874;ABBA01050875;ABBA01050876;ABBA01050877;ABBA01050878;ABBA01050879;ABBA01050880;ABBA01050881;AJ132545;AK027573;AK294172;AK299269;AK302494;AL359540;AL451136;AMYH01000572;AMYH01000573;BC022194;BC033085;BX648441;CH471059;DA990759;DB161528;NM_007170 AAH33085;ACE87084;ACE87764;BAB62909;BAG51348;BAG57493;BAG61291;BAG63778;CAB41970;EAX06986;EAX06987;EAX06988;EAX06989;NP_009101;Q96S53 Hs.591499 1692200;1692600;1703256;1730825;1766201;1766445;2106715;2176074;2183739;2190799 AL033737;AL033936;D1S322;RH18295;RH68652;SGC31961;SHGC-149565;SHGC-149775;TESK2;TESK2__5240 OTTHUMP00000009093;OTTHUMP00000009094;dual specificity testis-specific protein kinase 2;testicular protein kinase 2 APPROVED protein-coding ENSG00000070759 11732 604746 REVIEWED 1354475 TEX101 testis expressed 101 19 19 19 q13.31 40693597 40723504 + 48584603 48614589 + 43892763 43922767 + 737633;6480464 12477932 12975309;19153666;16516155;16388701;15489334;19886887;22990118;19017363;21933954;22158499;22588436 83639 Q9BY14 AA417291;ABBA01040858;ABBA01040859;AC005392;AC018758;AF241268;AF353396;AMYH01009839;AY014285;AY359077;BC001861;CH471126;NM_001130011;NM_031451 AAH01861;AAK27310;AAK28327;AAK38662;AAQ89436;EAW57187;EAW57188;EAW57189;NP_001123483;NP_113639;Q9BY14 Hs.97978 1687239;1735084 D3S2771E;RH92107 CT131;GTPR867;MGC4766;NYD-SP8;PRO1884;SGRG;SPATA44;TES101RP cancer/testis antigen 131;cell surface receptor NYD-SP8;scleroderma-associated autoantigen;spermatogenesis associated 44;spermatogenesis-related gene protein;testis expressed sequence 101;testis-expressed protein 101;testis-expressed sequence 101 protein;testis-specific protein TES101RP protein-coding ENSG00000131126 30722 15490 612665 VALIDATED 1606790 TET2 tet methylcytosine dioxygenase 2 The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 4 4 q24 106287392 106383377 + 106067032 106200960 + 6480464 19483684;19474426;19420352;19372255;19262601;22116554;19262599;16344560;14702039;12646957;12477932;19903679;22354994;22569366;22760778;22395470;10997877;21275969;21310937;20171768;19295549;19528370;19564637;19609284;19666869;19710701;19767753;19797729;19849974;19923888;19957346;20008299;20061559;20195608;20332099;20334914;20489055;20508616;20093295;20564319;20595094;20678218;20693430;21057493;21130701;20156304;20629097;20880116;21042320;23398456;23001125;22658931;21087791;20428194;20520643;20573398;20644105;20671051;20955399;21343549;21251613;21307773;23009937;21339759;21494260;21723200;21723201;21173100;21346257;21273266;21690245;21734233;21508122;21828143;21794915;22216861;12421765;21904853;22017486;22328940;22430270;21625234;21760590;21920603;22981865;21946350;21729597;22200996;20881960;22080757;22905207;23074272;23135354;23222540;23099237;22489043;22943828;23365461;23563267 54790 D6RE87;E7EPB1;E7EQS8;Q6N021 AB046766;AB075496;ABBA01063731;AC004069;AC026029;AI084057;AK000039;AK027819;AK055149;AMYH01014439;BC019007;BC110509;BC110510;BC150180;BC150201;BQ006500;BX640738;CH471057;DA391215;DR000714;DR005542;FM992369;NG_028191;NM_001127208;NM_017628 AAI10510;AAI10511;AAI50181;AAI50202;BAA90898;BAB13372;BAB55391;BAE45750;CAE45851;CAX30492;EAX06177;EAX06178;NP_001120680;NP_060098;Q6N021 Hs.367639;Hs.706276 1662320;1689612;1696536;1851381;2124653;2136212;2182627;2187474 AFM199yb2;D4S3313;G34465;RH69608;SHGC-23097;SHGC-67291;SHGC-67957;SHGC-78137 FLJ20032;KIAA1546;MDS;MGC125715 OTTHUMP00000161869;OTTHUMP00000161870;OTTHUMP00000219510;OTTHUMP00000219511;OTTHUMP00000219513;methylcytosine dioxygenase TET2;probable methylcytosine dioxygenase TET2;tet oncogene family member 2 APPROVED protein-coding ENSG00000168769 25941 07876 612839;614286 REVIEWED 1347068 TEX13B testis expressed 13B This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008] X X X q22.3 107695571 107697077 - 107110750 107112256 - 107224094 107225600 - 6480464 15772651;14531651;11279525 56156 Q9BXU2 ABBA01035960;AF285598;AL034399;AMYH01022834;CH471120;NG_015975;NM_031273 AAI60037;AAK31977;EAX02700;NP_112563;Q9BXU2 Hs.333130 1789460;5492785;5493441;5493961 G65774;UniSTS:480529;UniSTS:482551;UniSTS:486259 TGC3B;TSGA5 OTTHUMP00000023819;testis-expressed sequence 13B protein APPROVED protein-coding ENSG00000170925 11736 02258 300313 REVIEWED 1322209 TET1 tet methylcytosine dioxygenase 1 10 10 10 q21 63596035 63730160 + 69990123 70124245 + 70320117 70454239 + 6480464 19372391;19420352;18163421;15489334;15164054;12646957;12477932;12124344;11214970;16385451;18029348;19923888;21251613;21496894;21311766;22948384;22999938;23213213;22320381;22196727;22688054 80312 Q8NFU7 AB051463;ABBA01019578;ABBA01019579;ABBA01019580;ABBA01019581;ABBA01019582;ABBA01019583;AF430147;AK123436;AL360177;AL513534;AL713658;AL713888;AL832334;AL832337;AMYH01002802;AMYH01002803;BC053905;CH471083;NM_030625 AAH53905;AAI72365;AAM88301;BAB21767;CAD28467;EAW54299;NP_085128;Q8NFU7 Hs.567594;Hs.708977 1653104;1666558;1721433;2146303;2217226 CXXC6_3680;G59568;RH48131;SHGC-3962;SHGC-6703 CXXC6;FLJ10839;FLJ41442;KIAA1676;LCX;bA119F7.1 CXXC finger 6;CXXC zinc finger 6;CXXC-type zinc finger protein 6;OTTHUMP00000019708;leukemia-associated protein with a CXXC domain;methylcytosine dioxygenase TET1;ten-eleven translocation 1 gene protein;ten-eleven translocation-1;tet oncogene 1 APPROVED protein-coding ENSG00000138336 29484 09694 607790 VALIDATED 1323824 TEX10 testis expressed 10 9 9 9 q31.1 73577686 73628526 - 102104190 102154995 - 103064357 103115259 - 737633;6480464 12477932 22586326;15489334;15342556;15334068;15231748;15164053;14702039;12880961;12429849;15960975;19596235;19615732;19394292;21326211;22939629;21139048;21890473;21906983;21628590 54881 B7Z9D5;Q9NXF1 AA436854;AB060968;ABBA01042890;AJ420436;AK000294;AK055719;AK091669;AK298916;AK302619;AK303662;AK304869;AL353805;AL445214;AMYH01021571;AY598337;BC030652;BF981005;BP336313;CH471105;NM_001161584;NM_017746 AAH30652;AAT06748;ADZ15707;BAA91062;BAB87845;BAG61022;BAG63864;BAG64661;BAH14271;EAW58927;EAW58928;EAW58929;NP_001155056;NP_060216;Q9NXF1 Hs.494648 1654295;1661736;1735858;1768868;1775256;1779060;1846771;2146887;2146889 A005U30;D9S1923;D9S988E;G20513;RH12786;RH69417;RH69936;SHGC-31311;SHGC-34139 FLJ20287;FLJ31157;FLJ34350;Ipi1;RP11-208F1.2;bA208F1.2 OTTHUMP00000021797;testis expressed gene 10;testis expressed sequence 10;testis-expressed sequence 10 protein protein-coding ENSG00000136891 25988 15489 VALIDATED 4110019 TEX16P testis expressed 16, pseudogene X X q21.1 84212175 84256727 + 83972755 84017316 + 20210993 100499435 AMYH01022660;NG_023465;Z95126 2116966;2191699 AL022465;MARC_5255-5256:996690201:1 pseudo 37957 INFERRED 2291813 TET3 tet methylcytosine dioxygenase 3 Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010] 2 2 2 p13.1 74104908 74166519 + 74126958 74188811 + 74273450 74335303 + 6480464 19420352;15815621;15489334;12477932;11181995;9455477;21546767;19923888;20379614;21832049;23273568 200424 J3KNF3;O43151 AB007861;ABBA01075597;ABBA01075598;AC073263;AC110801;AF466365;AMYH01010451;BC022243;CH471053;NM_144993 AAH22243;AAO33386;AAX93057;BAA23697;EAW99702;NP_659430;O43151 Hs.516107 1734986;1761643;2107365;2150166;2186503 D2S1726E;MGC22014__7690;SHGC-145629;SHGC-62008;WI-16880 KIAA0401;MGC22014;hCG_40738 OTTHUMP00000202526;methylcytosine dioxygenase TET3;probable methylcytosine dioxygenase TET3;tet oncogene family member 3 APPROVED protein-coding ENSG00000187605 28313 613555 PROVISIONAL 1347600 TEX11 testis expressed 11 This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X X q13.1 70102128 70481892 - 69665515 70045292 - 69748790 70128567 - 1580863;6480464 16189514;18029348;16713569;14702039;12477932;11329013;11279525;20378615 56159 Q8IYF3 ABBA01067582;ABBA01067583;ABBA01067584;ABBA01067585;ABBA01067586;ABBA01067587;ABBA01067588;ABBA01067589;ABBA01067590;ABBA01067591;ABBA01067592;ABBA01067593;ABBA01067594;ABBA01067595;ABBA01067596;ABBA01067597;ABBA01067598;ABBA01067599;ABBA01067600;ABBA01067601;ABBA01067602;ABBA01067603;ABBA01067604;ABBA01067605;ABBA01067606;ABBA01067607;ABBA01067608;ABBA01067609;ABBA01067610;ABBA01067611;ABBA01067612;ABBA01067613;ABBA01067614;ABBA01067615;ABBA01067616;ABBA01067617;ABBA01067618;ABBA01067619;ABBA01067620;ABBA01067621;ABBA01067622;ABBA01067623;ABBA01067624;ABBA01067625;ABBA01067626;ABBA01067627;ABBA01067628;ABBA01067629;ABBA01067630;ABBA01067631;ABBA01067632;AF285594;AK057391;AK057523;AK292471;AL139109;AL627071;AL627390;AMYH01022528;AMYH01022529;AMYH01022530;AMYH01022531;AMYH01022532;BC036016;BG219070;BU929507;CH471132;NG_012574;NM_001003811;NM_031276 AAH36016;AAK31973;ABM85353;ABW03716;BAB71465;BAB71520;BAF85160;EAX05331;EAX05332;NP_001003811;NP_112566;Q8IYF3 Hs.121776 1341915;1768953;2139787;2183917;2220288;5016759;5021640;5021642;5021644;5022578;5022891;5022893;5022895;5022897;5105351;5107167;5115670;5115672;5115674;5115676;5115678;5115680;5115682;5115684;5115686;5115688;5115690;5115692;5115694;5115696;5115698;5115700;5115702;5115704;5115706;5115708;5115710 AB070035;D1S1423;DXS7113;DXS7115;DXS7116;DXS8052;G65771;RH99274;SHGC-110683;TEX11-10;TEX11-11;TEX11-12;TEX11-13;TEX11-14;TEX11-15;TEX11-16;TEX11-17;TEX11-18;TEX11-19;TEX11-2;TEX11-20;TEX11-21;TEX11-22;TEX11-23;TEX11-24;TEX11-25;TEX11-26;TEX11-27;TEX11-28;TEX11-29;TEX11-3;TEX11-30;TEX11-4;TEX11-5;TEX11-6-7;TEX11-8;TEX11-9 TGC1;TSGA3 OTTHUMP00000023480;OTTHUMP00000023482;OTTHUMP00000217425;testis expressed sequence 11;testis-expressed sequence 11 protein APPROVED protein-coding ENSG00000120498 11733 02256 300311 REVIEWED 3436643 TEX21P testis expressed 21, pseudogene 14 14 14 q23.3 44869938 44872076 - 63882610 63884140 - 64812191 64814329 - 20210993 441687 AA405121;ABBA01018356;AL161756;AMYH01005798;BU615745;EG327503;NR_033777 Hs.685242 1646081;1776594;2125779;2180777 D14S867;G17813;G35554;G35871 pseudo 35455 VALIDATED 1322630 TEX15 testis expressed 15 8 8 8 p12 29649146 29666582 - 30808602 30826075 - 30689060 30706533 - 6480464 12704671;11279525;12477932;20378615 56154 Q9BXT5 ABBA01023654;AC009314;AC090281;AF285605;AL133653;AMYH01018620;AMYH01018621;BC140934;BC141841;CH471080;NM_031271 AAI40935;AAI41842;AAK31984;EAW63431;EAW63432;NP_112561;Q9BXT5 Hs.458316;Hs.571446 1723345;1752711;1789462 G65776;RH118489;SHGC-106564 CT42;DKFZp434M2415 OTTHUMP00000225271;cancer/testis antigen 42;testis expressed sequence 15;testis-expressed sequence 15 protein protein-coding ENSG00000133863 11738 09313 605795 VALIDATED 1352852 TEX13A testis expressed 13A This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008] X X X q22.3 104938198 104939943 - 104350267 104352014 - 104463611 104465358 - 1580863;6480464 15489334;14531651;12477932;11279525 56157 J3KPB0;Q9BXU3 ABBA01018954;AF285597;AMYH01022813;BC042547;BC108734;CH471120;HC007336;NG_012566;NG_016253;NM_031274;Z74477 AAH42547;AAI08735;AAK31976;ABZ92542;ADZ15641;CBH19473;EAX02754;NP_112564;Q9BXU3 Hs.567543 1700204;1789458;5493961 G65773;RH103718;UniSTS:480529 MGC131984 OTTHUMP00000023771;OTTHUMP00000023772;testis-expressed sequence 13A protein APPROVED protein-coding ENSG00000133149 11735 02257 300312 REVIEWED 1351277 TEX12 testis expressed 12 This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008] 11 11 11 q22 109191328 109196512 + 111543305 111548489 + 112038095 112043279 + 6480464 15489334;12477932;11279525;19773279;17207965;22870393;20967262 56158 Q9BXU0 ABBA01039802;AF285600;AMYH01004035;AP002884;BC029506;BI561514;CH471065;EF444956;HC007334;NM_031275 AAH29506;AAK31979;ACA05953;ACA05955;ADQ32444;CBH19472;EAW67187;EAW67188;NP_112565;Q9BXU0 Hs.524039 1686750;5107169 G65772;RH93266 OTTHUMP00000234752;OTTHUMP00000234753;testis expressed sequence 12;testis-expressed sequence 12 protein;testis-expressed sequence 12 protein variant 2;testis-expressed sequence 12 protein variant 3 APPROVED protein-coding ENSG00000150783 11734 12045 605791 REVIEWED 1603143 TEX19 testis expressed 19 17 17 17 q25.3 76910011 76913791 + 77910409 77914909 + 80317123 80321652 + 6480464 14702039;12477932;18096721;21555518 400629 Q8NA77 ABBA01019676;AC132938;AK093086;AMYH01008731;BC016939;BC036191;BC050391;BC057820;CH471099;NM_207459 AAH16939;AAH36191;AAH50391;AAH57820;BAC04049;EAW89767;NP_997342;Q8NA77 Hs.231897 FLJ35767 OTTHUMP00000163756;testis-expressed sequence 19 protein protein-coding ENSG00000182459 33802 16940 VALIDATED 1313466 TEX14 testis expressed 14 The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011] 17 17 17 q22 53095837 53231170 - 53989038 54124415 - 56634038 56769416 - 1580863;6480464 15489334;12711554;12477932;12471243;11279525;20056645;20176808;20378615;16344560;22405274 56155 J3QKU8;J3QLK3;Q8IWB6 ABBA01041340;ABBA01041341;ABBA01041342;ABBA01041343;ABBA01041344;ABBA01041345;ABBA01041346;ABBA01041347;ABBA01041348;AC005666;AC011195;AF285601;AI243203;AK125896;AK128217;AK308299;AL834143;AMYH01008513;BC040526;BC045647;BG718877;BK000998;CB044007;CB050840;CH471109;DB086121;NM_001201457;NM_031272;NM_198393 AAH40526;AAK31980;ACT64555;CAD38856;DAA01359;EAW94437;EAW94438;NP_001188386;NP_112562;NP_938207;Q8IWB6 Hs.390221 1664395;1691712;1691728;1691766;1691768;1691770;1693844;1748935;1783464;1787874;1794012;5107171 G42200;G42210;G42237;G42239;G42240;G42610;G65775;GDB:372479;PMC310730P2;SHGC-110590;SHGC-112028;SHGC-173542 CT113 cancer/testis antigen 113;inactive serine/threonine-protein kinase TEX14;protein kinase-like protein SgK307;sugen kinase 307;testis expressed sequence 14;testis-expressed protein 14;testis-expressed sequence 14;testis-expressed sequence 14 protein APPROVED protein-coding ENSG00000121101 11737 605792 REVIEWED 5132216 TEX22 testis expressed 22 14 14 14 q32.33 85913852 85929183 + 104935971 104949232 + 105864920 105880196 + 6480464 12477932 647310 C9J3V5;F8VX47 ABBA01008876;AL928654;AMYH01006080;BC009212;BC012979;BC015572;BX378619;NM_001195082 C9J3V5;NP_001182011 Hs.729499 OTTHUMP00000209233;hypothetical protein LOC647310;testis expressed gene 22;testis-expressed sequence 22 protein protein-coding ENSG00000226174 40026 VALIDATED 1605740 TEX28P1 testis expressed 28 pseudogene 1 X X X q28 153658352 153679975 - 153114908 153136049 - 153461812 153482764 - 15378397;9268643 728447 AC092402;AC244097;NG_005787 1841008;2036110;2036112;2036114;2102380;2102386;2102392 ECD21697;REN89064;REN89065;REN89066;stSG603873;stSG603899;stSG603925 pTEX pseudo 33356 INFERRED 1604858 TEX28P2 testis expressed 28 pseudogene 2 X X X q28 153658352 153679975 - 153077878 153098828 - 153424684 153445634 - 16382448;15378397;9268643 653363 ABBA01045304;ABBA01045305;AC092402;AC244097;AMYH01023315;NG_005788;Z68193 1841008;2036110;2036112;2036114;2102380;2102386;2102392 ECD21697;REN89064;REN89065;REN89066;stSG603873;stSG603899;stSG603925 CXorf2B;pTEX pseudo 33357 INFERRED 1603633 TEX2 testis expressed 2 17 17 17 q23.3 56612865 56728752 - 59578527 59694385 - 62224795 62340653 - 6480464 16449791;15489334;14702039;12477932;11214970;21832049 55852 J3KRY2;J3KRZ8;J3QKY0;Q8IWB9 AB051525;ABBA01035308;AC016489;AC025362;AF163260;AF220182;AK000369;AK000758;AK091156;AK091214;AK314316;AL832371;AL834251;AMYH01008553;BC008896;BC033661;BC036672;BC040521;BC040522;BC108279;BX648260;CH471109;CR627433;NM_018469 AAF67647;AAH33661;AAH40521;AAI08280;AAQ13589;ACE87831;ACT64354;BAA91117;BAA91363;BAB21829;BAG52294;CAD38927;CAH10519;EAW94210;EAW94211;NP_060939;Q8IWB9 Hs.175414 1666699;1715251;1734494;1736684;1753139;1850789;1856112;2127063;2170542;2182101;2182103;5037552 1974;A001Y03;AFMa122zh9;D17S1426E;D17S1446E;D17S1507E;D8S2279;G19770;RH119155;RH18294;SHGC-109994;SHGC-32117 DKFZp781G0721;HT008;KIAA1738;TMEM96 testis expressed sequence 2;testis-expressed sequence 2 protein;transmembrane protein 96 protein-coding ENSG00000136478 30884 13716 VALIDATED 1346300 TEX261 testis expressed 261 2 2 2 p13.3 71063750 71072681 - 71066576 71075509 - 71213068 71222001 - 737633;6480464 12477932 16303743;15489334;14702039;12975309;9464256 113419 F8WAR8;Q6UWH6 ABBA01075545;ABBA01075546;AC007040;AK056410;AK074840;AK303594;AK315543;AL080223;AL832385;AMYH01010425;AY358783;BC010656;BC020251;BC128461;BC128462;BG260090;BI552105;CH471053;NM_144582 AAH20251;AAI28462;AAI28463;AAQ89143;BAG37921;BAG52013;BAG64609;EAW99783;EAW99784;EAW99785;NP_653183;Q6UWH6 Hs.516087 1659523;2186900;2186902 Bda84a08;D2S2835;RH11693 MGC32043;TEG-261 OTTHUMP00000160121;OTTHUMP00000203492;protein TEX261;testis expressed sequence 261 protein-coding ENSG00000144043 30712 15491 VALIDATED 1347640 TEX264 testis expressed 264 3 3 3 p21.31 51682990 51716106 + 51680330 51713377 + 51705222 51738339 + 737633;6480464 12477932 16344560;17081983;15489334;15342556;14702039;12975309;8125298;17207965;16712791;18816836 51368 C9J7N0;C9JHH5;C9JL43;C9JUC3;C9JXQ7;Q53GI2;Q9Y6I9 AA463493;ABBA01024521;ABBA01024522;AC099050;AF072733;AK023786;AK023997;AK222938;AK222949;AL832608;AMYH01013179;AY358972;BC001592;BC008742;BG326586;BG772477;BP252919;CB142778;CH471055;DA894396;HY149215;NM_001129884;NM_001243725;NM_001243726;NM_001243727;NM_015926;NR_024012;NR_103462;NR_103463 AAD22397;AAH08742;AAQ89331;ADQ32325;BAD96658;BAD96669;BAG51249;EAW65146;NP_001123356;NP_001230654;NP_001230655;NP_001230656;NP_057010;Q9Y6I9 Hs.517864 1652887;2109937;5022200;5022450;5022588;5037552 D10S275;D5S1597E;D8S2279;G27466;L18426;TEX264_9712 DKFZp451H0417;FLJ13935;SIG11;ZSIG11 OTTHUMP00000210973;OTTHUMP00000210974;OTTHUMP00000210975;OTTHUMP00000210976;OTTHUMP00000210979;OTTHUMP00000210980;putative secreted protein ZSIG11;testis expressed gene 264;testis expressed sequence 264;testis-expressed sequence 264 protein protein-coding ENSG00000164081 30247 15492 VALIDATED 1603922 TEX26 testis expressed 26 13 13 13 q12.3 12573379 12615677 + 30404834 30447153 + 31506834 31549153 + 6480464 15489334;15057823;12477932;17207965 122046 H0YE92;Q8N6G2 ABBA01010119;AL353680;AMYH01005013;BC030277;CH471075;NM_152325 AAH30277;ADQ31591;EAX08475;NP_689538;Q8N6G2 Hs.124463 1676420;1757201 RH93120;SHGC-144617 C13orf26;MGC40178 OTTHUMP00000018207;hypothetical protein LOC122046;testis-expressed sequence 26 protein;uncharacterized protein C13orf26 APPROVED protein-coding 28622 17551 PROVISIONAL 5687810 TEX26-AS1 TEX26 antisense RNA 1 13 31456972 31506745 - 12477932;14702039 100507064 ABBA01010119;AK093165;AL353680;AMYH01005012;AMYH01005013;BC042736;DB522937;NR_038287;NR_038288 Hs.654878 1341943;1757201 D13S1229;SHGC-144617 LINC00447 APPROVED miscrna ENSG00000224743 42784 VALIDATED 1606105 TEX33 testis expressed 33 22 22 22 q12.3 21188499 21205213 - 35717117 35733785 - 37387160 37403877 - 6480464 15461802;12477932;22332119 339669 H0Y6N4;O43247 ABBA01055457;ABBA01055458;AMYH01012753;BC042635;BE502000;BI827796;CH471095;CR456416;DB447439;HC007162;HC044573;NM_001163857;NM_178552;Z73420;Z82180 AAH42635;CAG30302;CBH19386;CBH30616;EAW60128;EAW60129;EAW60130;NP_001157329;NP_848647;O43247 Hs.124502 1698886 RH103010 C22orf33;EAN57;MGC35206;cE81G9.2 OTTHUMP00000197752;OTTHUMP00000197753;OTTHUMP00000197754;OTTHUMP00000197755;protein EAN57;testis-expressed sequence 33 protein APPROVED protein-coding ENSG00000185264 28568 17529 VALIDATED 1342529 TEX28 testis expressed 28 X X X q28 153658352 153684506 - 153152126 153176632 - 153498930 153523564 - 19098318;17567994;16189514;15489334;15378397;12477932;9268643 1527 B1B1E7;O15482 AC092402;AC244097;BC026183;CH471172;DB457033;DQ655913;NM_001205201;NM_001586;U93720;Z46936;Z49258;Z68193 AAB71379;AAH26183;ADZ15901;CAI41959;CAI43243;CAM26568;EAW72754;EAW72755;NP_001192130;NP_001577;O15482 Hs.672606;Hs.738440 1747697;1807958;1808376;1841008;2036110;2036112;2036114;2036116;2036118;2036120;2036122;2036124;2036126;2036128;2036130;2036132;2036134;2036136;2036138;2102380;2102386;2102390;2102392;2102394 ECD04957;ECD05169;ECD21697;G66672;REN89064;REN89065;REN89066;REN89067;REN89068;REN89069;REN89070;REN89071;REN89072;REN89073;REN89074;REN89075;REN89076;REN89077;REN89078;stSG603873;stSG603899;stSG603924;stSG603925;stSG603935 CXorf2;TEX28P1;TEX28P2;fTEX OTTHUMP00000024239;OTTHUMP00000064895;chromosome x open reading frame 2;testis-specific protein TEX28 protein-coding ENSG00000185254 2563 02103 300092 VALIDATED 2302458 TEX40 testis expressed 40 11 11 11 q13.1 61394765 61395361 + 63824439 63828815 + 64067863 64072239 + 16381901;15489336;11230166;11076863;11256614;21949640 25858 F5H186;Q9NTU4 ABBA01003296;AL117564;AMYH01003705;AP001453;NM_001039496 CAB55995;CAL37866;NP_001034585;Q9NTU4 Hs.97174 1685067 RH92300 C11orf20;DKFZp566E164 OTTHUMP00000237530;OTTHUMP00000239505;hypothetical protein LOC25858;testis-expressed sequence 40 protein;uncharacterized protein C11orf20 APPROVED protein-coding ENSG00000219435 19231 VALIDATED 1353968 TEX29 testis expressed 29 13 13 13 q34 92819927 92845111 + 110771016 110794595 + 111973015 111996594 + 6480464 19240061;15489334;15057823;12477932;17207965 121793 F2Z350;Q8N6K0 ABBA01026984;ABBA01026985;AL160395;AMYH01005381;BC029889;CH471085;NM_152324 AAH29889;ADQ31675;EAX09151;EAX09152;NP_689537;Q8N6K0 Hs.210677 C13orf16;MGC35169;bA474D23.1 OTTHUMP00000018720;hypothetical protein LOC121793;testis-expressed sequence 29 protein;uncharacterized protein C13orf16 APPROVED protein-coding ENSG00000153495 20370 14603 PROVISIONAL 1605014 TEX30 testis expressed 30 13 13 13 q33.1 84262890 84270580 - 102216461 102224143 - 103418460 103426149 - 6480464 15489334;15342556;15057823;12477932;9110174;8619474;17207965;21139048 93081 Q5JUR7;Q5JUR8;Q5JUS0 AA401719;ABBA01027070;AF070559;AK314995;AL157769;AMYH01005341;BC015148;BC048011;BP363423;CH471085;NM_138779 AAH15148;ADQ32815;BAG37491;EAX09064;EAX09065;EAX09066;NP_620134;Q5JUR7 Hs.398111 2144763;5017767;5494140 C13orf27;RH135142;WI-20709 C13orf27 OTTHUMP00000018668;OTTHUMP00000018669;OTTHUMP00000018670;OTTHUMP00000018671;OTTHUMP00000018673;hypothetical protein LOC93081;testis-expressed sequence 30 protein;uncharacterized protein C13orf27 APPROVED protein-coding ENSG00000151287 25188 14295 VALIDATED 1602971 TEX37 testis expressed 37 2 2 2 p11.2 87957216 87962150 - 88605284 88610217 + 88824169 88829103 + 6480464 17091336;16189514;12477932;21832049 200523 Q96LM6 ABBA01018816;AC104134;AK058098;AMYH01010629;AW104588;BC029522;CH471215;HC006836;HC044825;NM_152670 AAH29522;AAY24330;ADZ15939;BAB71663;CBH19223;CBH30742;EAW77070;NP_689883;Q96LM6 Hs.132104 C2orf51;FLJ25369;TSC21 OTTHUMP00000160850;Testis-Specific Conserved gene 21kDa;protein TSC21;testis-expressed sequence 37 protein;testis-specific conserved protein of 21 kDa APPROVED protein-coding ENSG00000172073 26341 08688 VALIDATED 1352588 TEX36 testis expressed 36 10 10 10 q26.13 121119677 121147126 - 127344263 127371713 - 127344263 127371713 - 6480464 15489334;15164054;12477932;20379614 387718 E9PJL2;E9PR91;Q5VZQ5 AA977508;ABBA01034168;AK131010;AL158835;AL805915;AMYH01003162;BC062717;BC127766;BC127767;NM_001128202 AAH62717;AAI27767;AAI27768;NP_001121674;Q5VZQ5 Hs.148259 1735996;5017689 ALDOA;D10S1286E C10orf122;FLJ27500;MGC157877;MGC157878;bA383C5.1 OTTHUMP00000020702;OTTHUMP00000232193;OTTHUMP00000232194;putative uncharacterized protein C10orf122;testis-expressed sequence 36 protein APPROVED protein-coding ENSG00000175018 31653 VALIDATED 1345496 TFAMP1 transcription factor A, mitochondrial pseudogene 1 7 7 7 p22.3 1621059 1623281 + 1620632 1622854 + 1654106 1656328 + 12095695;10737800;8333869;2035027 260341 AACC02000053;ABBA01039348;AC074389;AJ320516;AMYH01016963;CH236953;CV358951;NR_001288 Hs.534596 1654161;5015996 RH70235;Tfam MTTF1;TCF6L1 pseudo 11636 PROVISIONAL 1352310 TFAMP2 transcription factor A, mitochondrial pseudogene 2 11 11 11 q22.3 106930906 106932850 - 109281865 109283809 - 109776655 109778599 - 12095695 260340 ABBA01039844;AJ320517;AMYH01004026;AP001981;NG_007345 5015996 Tfam MTTF1;TCF6L3 pseudo 11638 INFERRED 2298822 TEX38 testis expressed 38 1 1 1 p33 45424851 45426604 + 46910032 46911853 + 47137497 47139266 + 12477932 374973 B7ZLT1;B7ZLT2;C9W8M6;H3BTK6;Q6PEX7 ABBA01050836;AI828862;AL593856;AMYH01000588;BC057818;BC067853;BC126318;BC144026;BC144027;FJ211596;NM_001145474 AAH57818;AAI26319;AAI44027;AAI44028;ACO25357;NP_001138946;Q6PEX7 Hs.443299 1699836;5493417 RH103525;UniSTS:486155 ATPAF1-AS1;C1orf223;THEG4 ATPAF1 antisense RNA 1 (non-protein coding);ATPAF1 antisense gene protein 1;hypothetical protein LOC374973;testis highly expressed protein 4;testis-expressed sequence 38 protein;uncharacterized protein ATPAF1-AS1 APPROVED protein-coding ENSG00000186118 29589 VALIDATED 7245716 TEX41 testis expressed 41 (non-protein coding) 12477932;19913121;20628086 401014 ABBA01028044;ABBA01028045;ABBA01028046;ABBA01028047;ABBA01028048;AC010090;AC012670;AC023128;AC074015;AC074093;AMYH01011150;BC043549;BQ438527;BX648102;NR_033870 Hs.742290 1336038;1339764;1713539;1720099;1723811;1753681;7186732 D2S2313;D2S381;RH118643;RH120256;RH123791;SHGC-107566 DKFZp686O1327;LINC00953 miscrna ENSG00000226674 48667 VALIDATED 1348676 TEX35 testis expressed 35 1 1 1 q25.2 151591311 151601733 + 176748833 176758407 + 178482212 178492635 + 6480464 11256614;17077512;16710414;16381901;15489336;15489334;14702039;12477932;11230166;11076863;21145461;23251661 84066 E5RIH0;Q5T0J5;Q5T0J7;Q5T0K0 ABBA01027835;AK093269;AL136694;AL513013;AL552172;AMYH01001524;AW340027;AW628627;BC034972;BE041517;BI461686;BI825610;CH471067;NM_001170722;NM_001170723;NM_001170724;NM_032126 AAH34972;BAC04115;CAB66629;CAL37752;CAL38540;EAW91023;EAW91024;EAW91025;NP_001164193;NP_001164194;NP_001164195;NP_115502;Q5T0J7 Hs.534501 C1orf49;DKFZp564J047;FLJ40199;MGC26863;RP5-990P15.1;TSC24 OTTHUMP00000033042;OTTHUMP00000033043;OTTHUMP00000038521;OTTHUMP00000038522;Testis-Specific Conserved gene 24kDa;hypothetical protein LOC84066;testis-expressed sequence 35 protein;uncharacterized protein C1orf49 APPROVED protein-coding ENSG00000240021 25366 13169 VALIDATED 1606392 TEX9 testis expressed 9 15 15 15 q21.3 33546575 33627103 + 54444936 54525364 + 56657644 56738072 + 6480464 16189514;15489334;12477932 374618 B4DH73;H0YKG1;H0YLZ3;H0YM20;H0YND2;H3BS88;Q8N6V9 ABBA01039006;AC068726;AC084782;AK294960;AL832050;AMYH01006676;BC028119;CH471082;NM_198524 AAH28119;ADZ16097;BAG58034;EAW77500;NP_940926;Q8N6V9 Hs.511476 MGC40181 OTTHUMP00000162908;testis expressed sequence 9;testis-expressed sequence 9 protein protein-coding ENSG00000151575 29585 15493 PROVISIONAL 7247789 TFAP2A-AS1 TFAP2A antisense RNA 1 12477932;14702039 100130275 ABBA01022076;AI290592;AI368022;AK092393;AL138885;AMYH01016079;BC012200;BC037167;CH471087;NR_033910 EAW55252;EAW55253 Hs.661431 miscrna 40579 VALIDATED 1321067 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009] 6 6 p24 10504902 10527783 - 10396916 10419797 - 1580863;1578494;6480464;7240710 14752511 20398657;12072434;8321221;1916817;8661133;12586840;19376641;19228880;19206157;19154347;19115315;19089912;19074833;18955504;18836445;18639284;18620802;18515748;18443366;18423521;18358093;18316341;18275040;18042070;18036196;17719138;17695722;17651731;17621592;17556657;17513613;17355223;17318229;17224907;17097614;16946713;16867219;16707488;16636674;16533807;16502414;16361535;16260418;16236267;16108032;15930016;15870067;15864740;15671555;15569994;15548692;15498833;15331612;15039486;14744778;14551210;14517991;12975361;12960147;12843180;12595566;12477932;12475396;12358602;12228234;12226108;12221107;12203368;12145340;11973333;11744733;11604514;11438643;10987820;10567358;10037142;9830047;9632747;9169421;8190633;3063603;2010091;1998122;1587861;7729426;12577067;20634891;21303946;15809337;16325581;20358615;11447109;19351721;19363595;19411194;19443578;19578371;19654299;19672266;19742317;19763255;20145123;20376207;8087843;19685247;20564234;20607706;18029348;20932315;20805990;20808827;20635357;21250552;21204207;18310298;21084835;22575257;21781438;11278550;21654541;21777522;21683068;7555706;7559606;21940908;18718911;18781797;21850486;21979958;21987572;21829699;21876733;20731749;21728810;19471022;23036739;19786833;21634087;22359570;22191992;21659426;21693764;21966377;21110914;21375726;22484487;16497222;19322201;21363924;20448150;21963094;22323290;23382213;23275444;9490719;9520389 7020 C1K3N0;C9J6N8;C9JXZ2;F8WDC8;F8WEX2;H7C4N4;H7C5E5;P05549;Q96SH1 ABBA01022076;AK296737;AL138885;AMYH01016079;BC017754;BC071713;CB990517;CH471087;FJ794945;M36711;M61156;NG_016151;NM_001032280;NM_001042425;NM_003220;X52611;X77343 AAA02487;AAA35539;AAH17754;ABM82025;ABM85207;ACN93799;BAH12422;CAA36842;CAB59735;EAW55248;EAW55249;EAW55250;EAW55251;NP_001027451;NP_001035890;NP_003211;P05549 Hs.519880 1648485;1680204;1698640;1797218;2109939;2134497;2162795 G15872;RH102877;RH17802;RH68004;RH91941;TFAP2A;TFAP2A_7217 AP-2;AP-2alpha;AP2TF;BOFS;FLJ51761;TFAP2 AP-2 transcription factor;AP2-alpha;OTTHUMP00000016011;OTTHUMP00000016013;OTTHUMP00000016014;OTTHUMP00000214240;OTTHUMP00000214243;activating enhancer-binding protein 2-alpha;activator protein 2;transcription factor AP-2-alpha APPROVED protein-coding ENSG00000137203 11742 00128 107580;113620 REVIEWED 1352189 TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 1 1 1 p34.3 34313365 34335296 + 35811558 35833516 + 36038971 36060929 + 737633;1580863;6480464 12477932 14636996;20862309;22216841 339488 Q6VUC0 ABBA01023337;ABBA01023338;AC004865;AL157951;AMYH01000491;AY326454;BC041175;CH471059;NM_178548 AAH41175;AAQ91614;EAX07409;NP_848643;Q6VUC0 Hs.567844 AP2E;MGC49007 AP2-epsilon;OTTHUMP00000004609;activating enhancer-binding protein 2-epsilon;adaptor-related protein complex 2, epsilon subunit;transcription factor AP-2-epsilon protein-coding ENSG00000116819 30774 18174 614428 VALIDATED 1605718 TFAM transcription factor A, mitochondrial This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 10 10 q21 59815182 59825903 + 60144903 60158990 + 5683621;6480464;6767567;6771173;2302400;6767573;6767572;6770890;6771184;6771185;6484267;6767574;6767568;5683906;6771188;6767575;6907045 17459894;22469910;20529956;18723421;22266265;22354563;21595933;18248889;17537576;22040668;21854834;22361577;21862610;18997871;21799244 17167045;16631115;16428295;16202542;16043643;15547250;15526033;15509786;15489334;15464268;12921794;12897151;12839966;12686611;12477932;12127986;12095695;12068295;11964388;11457459;9063738;7789991;3594571;2035027;1737790;1610904;15525513;8333869;18063578;19653005;19304746;19209188;19192634;19148128;19096125;18980857;18830724;18716221;18660489;18642640;18451773;18430995;18258228;18028422;17707600;17497594;17339235;17192785;21145461;22306509;20534741;20574532;20202876;20410300;16385451;19496804;19624753;19681768;19885567;19925850;20413850;20432700;20739229;20863902;20877624;20880607;20977898;20843780;21081181;20643228;21467167;22910359;21453679;23012404;22037171;22037172;18029348;20186120;20972266;21139048;21890473;22098591;22266811;19322201;22129993;22675199;11668394;11972329;12428064;12626705;14969715;15126285;15965051;18072287;20562347;21514422;21948790;22493245;2628167;3211148;7599198;7849699;7969115;8061564;8108407;8166737;8441424;8889548;9181464;9309692;9679658;19738201;21150319;22904065;23000965;23398456;23456168;22709542;22841477;23201127 7019 E5KSU5;H7BYN3;Q00059 AB451241;AB451366;ABBA01019436;ABBA01019437;AC023170;AK312558;AMYH01002766;BC018628;BC029815;BC104482;BC126366;BM455062;BT019658;BT019659;CH471083;CN478914;CR407653;CR736151;DB456976;EU279428;HQ206066;HQ206067;HQ206068;HQ206069;HQ206070;HQ206071;HQ206072;HQ206073;HQ206074;HQ206075;HQ206076;HQ206077;HQ206078;HQ206079;HQ206080;HQ206081;HQ206082;HQ206083;HQ206084;HQ206085;HQ206086;HQ206087;HQ206088;HQ206089;HQ206090;HQ206091;HQ206092;HQ206093;HQ206094;HQ206095;HQ206096;HQ206097;HQ206098;HQ206100;HQ206101;HQ206102;HQ206103;HQ206104;HQ206105;M62810;NM_001270782;NM_003201;NR_073073;X64269 AAA59849;AAH18628;AAI04483;AAI26367;AAV38464;AAV38465;ABX72056;ADP91974;ADP91975;ADP91976;ADP91977;ADP91978;ADP91979;ADP91980;ADP91981;ADP91982;ADP91983;ADP91984;ADP91985;ADP91986;ADP91987;ADP91988;ADP91989;ADP91990;ADP91991;ADP91992;ADP91993;ADP91994;ADP91995;ADP91996;ADP91997;ADP91998;ADP91999;ADP92000;ADP92001;ADP92002;ADP92003;ADP92004;ADP92005;ADP92006;ADP92008;ADP92009;ADP92010;ADP92011;ADP92012;ADP92013;ADR83509;BAG35455;BAG70055;BAG70180;CAA45562;CAG28581;EAW54171;EAW54172;EAW54173;EAW54174;EAW54175;NP_001257711;NP_003192;Q00059 Hs.594250 1650153;1654161;1664835;1682371;1688652;1694870;1780024;2161976;2179655;5021396 A007E45;AFMB080YD9;G44309;GDB:313783;RH48784;RH65397;RH69158;RH70235;SHGC-154285;STS-M62810 MtTF1;TCF6;TCF6L1;TCF6L2;TCF6L3;mtTFA OTTHUMP00000019632;OTTHUMP00000019633;OTTHUMP00000019634;TCF-6;Transcription factor 6-like 2 (mitochondrial transcription factor);mitochondrial transcription factor 1;mitochondrial transcription factor A;transcription factor 6;transcription factor 6-like 1;transcription factor 6-like 3;transcription factor A, mitochondrial APPROVED protein-coding ENSG00000108064 11741 02702 600438 REVIEWED 1347905 TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 6 6 6 p12.1 52237300 52296828 + 50789216 50848705 + 50681257 50740746 + 6480464 17213182;16684505;11733187;12477932 83741 Q7Z6R9 ABBA01050579;ABBA01050580;AL031224;AMYH01016342;AY028376;BC144200;CH471081;DT221015;NM_172238 AAI66653;AAK16926;EAX04354;NP_758438;Q7Z6R9 Hs.434107 1339554;1713343;2125973;2130372;2174035;2218088 AFMA216YE5;AFMa053wf1;D6S948;G17067;RH120665;TFAP2BL1_2688 TFAP2BL1 AP-2 like;AP2-delta;OTTHUMP00000016593;activating enhancer binding protein 2 beta-like 1;activating enhancer-binding protein 2-delta;transcription factor AP-2 beta (activating enhancer binding protein 2 beta)-like 1;transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1;transcription factor AP-2-beta-like 1;transcription factor AP-2-delta protein-coding ENSG00000008197 15581 11627 610161 VALIDATED 1342593 TF transferrin This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009] 3 3 q22.1 134947925 134980325 + 133464977 133497850 + 1601513;1601536;1601514;1601524;1601529;1601537;1601520;1601532;1580863;1601515;1601518;6480464;6484113;7240710;7244198;7244377;7244386;7244379;7244383;7244177;7244387;7244194;7244197;7244196;7244154 11703331;17010319;17416791;14974364;17417667;16671451;16267817;17081048;17350134;16936158;22328173;23270806;22538758;22861364;22736466;23369046;22464783;22607047;23055815;23468095;23680589 10931525;22232660;19290554;19254567;19250966;19228837;19219998;19176989;19165391;19110265;19084217;19021568;18977241;18835036;18830724;18813964;18795173;18654083;18597674;18509548;18442477;18395717;18344013;18307987;18257091;18245657;18097132;18067952;18045615;18029348;18022819;17980706;17976429;17728504;17711300;17640392;17601350;17573378;17496814;17206377;17192785;17119318;17116317;17047092;17011669;17008590;16740002;16538641;16497717;16373913;16339299;16335952;16331960;16300393;16288727;16199891;16169070;16085060;16047113;15975770;15924420;15892129;15698609;15648851;15634274;15536627;15489334;15466165;15327995;15319290;15271890;15214510;15214509;15111541;15084671;15060098;15042587;14980223;14760718;14757931;14702039;14645044;14643898;14614458;14580189;14567694;14523999;12951205;12942785;12939601;12884526;12819023;12626412;12617162;12477932;12473103;12459033;12458193;12450380;12223217;12210842;12207902;12175089;12165535;12145410;12135367;12111369;12044175;11940510;11920219;11903051;11800564;11785295;11749962;11725818;11702220;11606717;11445282;11436564;11297622;11110675;11027676;15880641;15229288;15292400;14718574;19583819;19545871;19515372;22458330;10029548;9803271;9760232;9609685;9570576;9358047;9312001;9272172;8499451;8125298;7498159;6953407;6833213;6690479;6585826;6322780;6268632;5927288;5711079;5610700;3858812;3786138;3678832;3436225;3106157;3057819;2780570;1932003;1851757;1809186;1602151;15525538;12522210;15252009;19913121;20410508;20534741;20574532;20587610;20628086;20659343;20817350;20064616;11208127;12857860;14630798;16354665;19281173;19572083;19650928;19670106;19693784;19698254;19761807;19828835;19838776;19852572;19856410;19916167;19917294;19921860;20029940;20066543;20096706;20113254;20150920;20164577;20188707;20215856;20379614;20397659;20413850;20444258;6457647;8889548;21049900;16564538;20708639;2874839;20880607;20052609;20371432;20615872;20118108;20447458;19859668;21208937;20633231;20634490;21376789;20721554;21389980;20738776;21103663;21408069;21665994;21422745;20360068;21320285;21182205;22424853;22726553;22819264;21678080;21866866;21788477;18624398;21664032;21881004;22079093;21113232;21811575;21904748;22923205;23256035;22191507;21873562;22356162;21820158;22041858;21384276;22327295;22343719;21643746;21785125;20309589;22323359;22159020;21459485;21514009;16354686;21150319;21483845;21988832;22829284;23089144;22873711;22722730 7018 A0PJA6;C9JB55;C9JVG0;F8WC57;F8WCI6;F8WEK9;H7C5E8;J3KN47;P02787;Q06AH7 ABBA01059164;AC080128;AC083905;AF058327;AF118093;AF288144;AJ252279;AK126941;AK222755;AK293842;AK295334;AK295419;AK303753;AK312094;AMYH01013511;AY308797;BC020671;BC022262;BC045772;BC054870;BC059367;BU740589;BX537660;BX648533;CH471052;CR936810;DC352309;DQ525716;DQ923758;FB751514;GM662864;HH957975;HH957979;M11372;M12525;M12530;M17611;M17614;M21569;M21570;M26641;NG_013080;NM_001063;S95936;U88581;X04600 AAA61140;AAA61141;AAA61142;AAA61143;AAA61145;AAA61147;AAA61148;AAA61233;AAB22049;AAB97880;AAC63506;AAF22037;AAH20671;AAH59367;AAK77664;AAP45055;ABF47110;ABI97197;BAD96475;BAG35030;BAG57240;BAG58308;BAG58369;BAG64724;CAA28265;CAB96907;CAT02257;CAV33839;CBX51251;CBX51253;EAW79164;EAW79165;EAW79166;EAW79167;EAW79168;EAW79169;EAW79170;NP_001054;P02787 Hs.518267 1644800;1752421;1752423;1774433;2124244;2141528;2149708;2160098;2163303;2177943;5022578;5024039;5037552 D16S325;D1S1423;D3S4166;D8S2279;RH78748;SGC31261;SHGC-106312;SHGC-106360;SHGC-33327;SHGC-77354;STS-H55960;STS-R05291;STS-T64298 DKFZp781D0156;PRO1557;PRO2086;TFQTL1 OTTHUMP00000197155;beta-1 metal-binding globulin;serotransferrin;siderophilin APPROVED protein-coding ENSG00000091513 11740 01811 190000;209300 REVIEWED 1346626 TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008] 20 20 q13.2 54637765 54647746 + 55204358 55214339 + 1331350;1580863;6480464 8661133 12072434;9113991;19458056;19130459;18443366;18042070;17947476;17875680;16867219;16636674;15700319;15569994;15548692;15489334;14565844;12833450;12801994;12586840;12490322;12477932;12228234;12226108;11859873;11780052;11773066;11744733;11095974;7891714;7846046;21468029;19443578;19671168;19798054;17848411;20629094;11278550;21572391;11694877;22379092;21693764;21963094;19322201;21363924;19471022;22371483;22702469;19115315;22560121 7022 A2A2R7;B4DWK3;Q92754 AB041717;ABBA01052907;AF544986;AJ315934;AK301572;AK314272;AL121920;AMYH01012006;BC035664;BC051829;CH471077;NM_003222;U85658;X95693 AAC51305;AAH35664;AAH51829;AAN37906;BAC11805;BAG36933;BAG63065;CAA64989;CAC86997;EAW75532;NP_003213;Q92754 Hs.473152 1667209;1679605;2157436;2164588;2179838;2191129 MARC_14926-14927:1012938800:1;RH46523;RH47041;RH75698;STS-T50072;STS-X95693 AP2-GAMMA;ERF1;TFAP2G;hAP-2g OTTHUMP00000031355;activating enhancer-binding protein 2 gamma;estrogen receptor factor 1;transcription factor AP-2 gamma;transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma);transcription factor ERF-1 APPROVED protein-coding ENSG00000087510 11744 03361 601602 REVIEWED 1314875 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008] 6 6 p12 50894398 50923285 + 50786439 50815326 + 1331350;1601544;1601543;1580863;6480464;7240710 8661133;16373417;10802654 12577067;22199100;17123722;16954217;16787706;16420676;16373396;16344560;15940393;15722186;15569994;15489334;15245963;15057523;14673213;14574404;12586840;12477932;12270648;12228234;12192491;11744733;11505339;11278660;9271117;8889548;7729426;17185054;12072434;12169688;7555706;19336370;19325541;19184334;18752453;18358611;17728669;17630431;17574780;17525748;21766608;22797727;20703240;20607706;20935630;16169070;16698963;19557161;19778525;20211142;20724581;20019683;20301285;21386085;7559606;21215182;21674055;11694877;21643846;21504541;21963094;21139048;21110914;21935397;19115315;22952648 7021 A8K557;Q92481 ABBA01050577;ABBA01050578;AJ278356;AK291172;AK313749;AL031224;AL049693;AMYH01016343;AU141084;BC037225;BU738725;CH471081;NG_008438;NM_003221;X95694;Y09912 AAH37225;ABM82369;ABM85547;BAF83861;BAG36489;CAA64990;CAA71047;CAC01130;EAX04355;EAX04356;EAX04357;NP_003212;Q92481 Hs.33102 1656721;1663834;1683409;1794484;1798268;2115575;5017927 PMC316415P4;RH46680;RH65802;RH74906;SGC31053;TFAP2B_2106;Tcfap2b AP-2B;AP2-B;MGC21381 AP2-beta;OTTHUMP00000016595;activating enhancer binding protein 2 beta;activating enhancer-binding protein 2-beta;transcription factor AP-2-beta APPROVED protein-coding ENSG00000008196 11743 03360 169100;601601 REVIEWED 1345068 TFDP1P transcription factor Dp-1 pseudogene 1 1 1 q32.2 182636310 182638714 + 207472011 207473387 + 209405458 209407862 + 9027491 391158 ABBA01048221;AC092810;AMYH01001696;NG_009284;U58192 pseudo 11750 INFERRED 1351892 TFB1M transcription factor B1, mitochondrial The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010] 6 6 q25.1-q25.3 155620482 155677318 - 155577264 155635617 - 1580863;6480464 18063578;19096125;18980857;17557812;15684387;15489334;15110318;14574404;12897151;12532263;12496758;12477932;12068295;11809803;10810093;21145461;20877624;19417006;19681768;20843780;21195351;21139048 51106 E5KTM5;Q8WVM0 AA405744;ABBA01025583;ABBA01025584;AF151833;AK289484;AL139101;AMYH01016765;AMYH01016766;BC005183;BC017788;BC054007;BU849912;CA430614;CH471051;HQ206306;HQ206307;HQ206308;HQ206309;HQ206310;HQ206311;HQ206312;HQ206313;HQ206314;HQ206315;HQ206316;HQ206317;HQ206318;HQ206319;HQ206320;HQ206321;HQ206322;HQ206323;HQ206324;HQ206325;HQ206326;HQ206327;HQ206328;HQ206329;HQ206330;HQ206331;HQ206332;HQ206333;HQ206334;HQ206335;HQ206336;HQ206337;HQ206338;HQ206339;HQ206340;HQ206341;HQ206342;HQ206343;HQ206344;HQ206345;NG_027528;NM_016020 AAD34070;AAH05183;AAH17788;ABM82896;ABM86085;ADP92254;ADP92255;ADP92256;ADP92257;ADP92258;ADP92259;ADP92260;ADP92261;ADP92262;ADP92263;ADP92264;ADP92265;ADP92266;ADP92267;ADP92268;ADP92269;ADP92270;ADP92271;ADP92272;ADP92273;ADP92274;ADP92275;ADP92276;ADP92277;ADP92278;ADP92279;ADP92280;ADP92281;ADP92282;ADP92283;ADP92284;ADP92285;ADP92286;ADP92287;ADP92288;ADP92289;ADP92290;ADP92291;ADP92292;ADP92293;BAF82173;EAW47690;NP_057104;Q8WVM0 Hs.279908 1656194;1688700;1769574;1846880;2118801;2171392 A004I02;G31560;RH1528;RH15868;RH65775;RH92066 CGI-75;CGI75;mtTFB;mtTFB1 OTTHUMP00000017473;S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1;dimethyladenosine transferase 1, mitochondrial;h-mtTFB;h-mtTFB1;hTFB1M;homolog of yeast mitochondrial transcription factor B;mitochondrial 12S rRNA dimethylase 1;mitochondrial dimethyladenosine transferase 1;mitochondrial transcription factor B1 APPROVED protein-coding 17037 09515 607033 REVIEWED 1316077 TFB2M transcription factor B2, mitochondrial 1 1 q44 244770489 244796186 - 246703863 246729565 - 1580863;6480464 15489334;12897151;12068295;18063578;19096125;18980857;17557812;17031457;16710414;16344560;15684387;15526033;14702039;12532263;12477932;21145461;19417006;19624753;19681768;20410300;20877624;21890473;22318606 64216 F5H7M4;Q9H5Q4 ABBA01047152;AF529366;AK026314;AK026835;AK300238;AL356583;AMYH01001902;BC003383;CH471148;CK725134;DA038232;NM_022366 AAH03383;AAQ09600;ABZ92047;BAB15441;BAB15566;BAG62006;EAW77149;EAW77150;EAW77151;EAW77152;EAW77153;NP_071761;Q9H5Q4 Hs.7395 1340268;1699588 D8S1021;RH103395 FLJ22661;FLJ23182;Hkp1;mtTFB2 HCV NS5A-transactivated protein 5;OTTHUMP00000037974;S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2;dimethyladenosine transferase 2, mitochondrial;h-mtTFB;h-mtTFB2;hTFB2M;hepatitis C virus NS5A-transactivated protein 5;mitochondrial 12S rRNA dimethylase 2;mitochondrial transcription factor B2 protein-coding ENSG00000162851 18559 09520 607055 VALIDATED 1313494 TFCP2L1 transcription factor CP2-like 1 2 2 2 q14 115298911 115367497 - 121695004 121759245 - 121974163 122042778 - 1580863;6480464 10644752;18004979;15815621;15489334;15471945;12477932;11073954;1173954;18029348;20661472;22939629;19505873;21988832;23001997 29842 Q53RS7;Q9NZI6 ABBA01032232;ABBA01032233;ABBA01032234;ABBA01032235;ABBA01032236;AC013399;AC079988;AF198488;AK311692;AL137740;AMYH01010994;AMYH01010995;BC020554;BC064698;BM055156;CH471103;NM_014553 AAF32275;AAH64698;AAX88871;AAY24072;ABZ92231;CAI46212;EAW95250;EAW95251;NP_055368;Q9NZI6 Hs.156471 1761541;1776514;2156710;2218820 D2S2765;SHGC-145539;SHGC-58087;TFCP2L1__5244 CRTR1;LBP-9;LBP9 CP2-related transcriptional repressor 1;CRTR-1;OTTHUMP00000207296;transcription factor CP2-like protein 1;transcription factor LBP-9 protein-coding ENSG00000115112 17925 18175 609785 VALIDATED 1318080 TFAP4 transcription factor AP-4 (activating enhancer binding protein 4) Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009] 16 16 p13 4247188 4263002 - 4307187 4323001 - 1580863;6480464 2833704;2123466;18818310;18052253;17081983;16344560;15616553;15489334;15302935;12477932;10438607;9482665;8786101;7933101;21336989;11171123;12663744;14645924;16540471;16924111;18480385;19505873;19615732;9931457;23055200;22242598;21139048;21719561;21890473;19471022;19322201;22615908;22939629;18187620;22077140 7023 I3L254;I3L301;I3L4L6;Q01664 AB209146;ABBA01026763;ABBA01026764;AC004653;AC009171;AK309301;AMYH01007101;BC010576;BC039696;BU159415;CH471112;CR541726;DA449763;NM_003223;S73885;X57435 AAB32235;AAC17116;AAH10576;ABM84543;ABM86219;BAD92383;CAA40683;CAG46527;EAW85320;EAW85321;EAW85322;NP_003214;Q01664 Hs.513305 1775764 STS-S73885 AP-4;bHLHc41 OTTHUMP00000159805;activating enhancer-binding protein 4;class C basic helix-loop-helix protein 41;transcription factor AP-4;transcription factor AP-4 (activating enhancer-binding protein 4) APPROVED protein-coding ENSG00000090447 11745 11795 600743 VALIDATED 1315527 TFCP2 transcription factor CP2 This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010] 12 12 q13 49774887 49852931 - 51487539 51566926 - 1580863;6480464 8157699;18787404;18629613;18307033;17902044;16713569;16710089;16648487;16272261;15489334;12661759;12555245;12477932;12393799;11940654;11865070;11574690;11283204;11003662;10888618;10455131;9685356;9371597;8586452;8289393;8114710;8035790;7828600;1732747;16169070;11001930;16344560;16973241;17456737;18164103;19889475;19902333;20404171;20562859;20661472;19505873;11884454;15857981;16263792;20211142;21876634;22242598;21139048;22167195;19471022;21703197;22396589 7024 AAB29976;F8VWL0;F8VX55;Q12800 ABBA01031599;ABBA01031600;ABBA01031601;ABBA01031602;AC087884;AC139768;AK291264;AK308087;AMYH01004462;AU133131;BC003634;BX479302;CH471111;M84810;NG_029908;NM_001173452;NM_001173453;NM_005653;U03494;U03495 AAA21324;AAA21325;AAB29976;AAH03634;BAF83953;EAW58174;EAW58175;EAW58176;EAW58177;EAW58178;NP_001166923;NP_001166924;NP_005644;Q12800 Hs.48849 1670610;1700394;1743799;1748363;1777296;1849804;2147785;2181278;5020234;5117158 D12S2144;G15984;G64226;GDB:373799;GDB:450224;RH103817;RH67931;RH71191;SHGC-17241;SHGC-17299 CP2;LBP-1C;LBP1C;LSF;LSF1D;SEF;TFCP2C OTTHUMP00000241709;OTTHUMP00000241710;OTTHUMP00000241711;OTTHUMP00000241712;SAA3 enhancer factor;alpha-globin transcription factor CP2 APPROVED protein-coding ENSG00000135457 11748 01790 189889 REVIEWED 1353749 TFDP3 transcription factor Dp family, member 3 This gene encodes a member of the DP family of transcription factors. These factors heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. This protein functions as a negative regulator and inhibits the DNA binding and transcriptional activities of E2F factors.[provided by RefSeq, May 2010] X X X q26.2 132737132 132738811 - 132178363 132180042 - 132350697 132352376 - 17062573;16418725;12477932;12097419;22482402;17632080;20559320;22939624;23212661 51270 Q5H9I0 ABBA01042308;AF219119;AMYH01022989;BC074762;BC117336;BC126361;CH471107;NG_021355;NM_016521;Z77249 AAF37562;ABZ92371;EAX11773;NP_057605;Q5H9I0 Hs.142908 5492677;5493433 UniSTS:481962;UniSTS:486219 CT30;DP4;E2F-like;HCA661;MGC161639 E2F-like protein;OTTHUMP00000024051;cancer/testis antigen 30;hepatocellular carcinoma-associated antigen 661;transcription factor Dp family member 3 APPROVED protein-coding ENSG00000183434 24603 06623 300772 REVIEWED 1346598 TFDP1 transcription factor Dp-1 This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009] 13 13 q34 113287057 113343505 + 114239003 114295788 + 1580863;6480464;6907045 8405995;9190208;18687693;16135794;15863509;15536069;15489334;15203218;14618416;12607600;12477932;12150994;12029633;12004135;11331592;11042687;10540350;10082561;9704927;9501179;9027491;8846921;8832394;8816502;8755520;8413592;8039504;7958925;7958924;7760804;7739537;16189514;7892279;9780002;8896460;8816798;19995430;16360038;19738611;20379614;20513349;9989809;22939629;9199321;21715488;22325352;22629304;17531812;21890473;21906983;17187060;19322201;22505724 7027 B4DLQ9;F5H452;Q14186;Q5JSB5;Q5JSB6 ABBA01019873;AF550129;AK297114;AK298521;AK310401;AK313742;AL442125;AMYH01005403;AMYH01005404;BC011685;BC036601;CD623680;CH471085;L23959;NG_029909;NM_007111;NR_026580 AAA58440;AAH11685;AAN46090;ABM83791;ABM87113;BAG59621;BAH12805;EAX09216;EAX09217;EAX09218;EAX09219;NP_009042;Q14186 Hs.79353 1338959;1759387;1847567;2132268;2155745;2180308;5096051;5124043;5493433 D13S1446;D13S293;HSC0VG072;RH1609;RH17637;RH70183;RH78077;SHGC-150653;UniSTS:486219 DP1;DRTF1;Dp-1 DRTF1-polypeptide 1;E2F dimerization partner 1;E2F-related transcription factor;OTTHUMP00000018765;OTTHUMP00000018767;transcription factor Dp-1 APPROVED protein-coding ENSG00000198176 11749 01792 189902 REVIEWED 1314075 TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 3 3 q23 143154018 143207067 - 141663270 141868386 - 1580863;6480464;6907045 9027491;7784053;15489334;12927774;12477932;12036888;10090723;9689056;9501179;9368098;8755520;7739537;16189514;14702039;15489335;16344560;16360038;16482218;17207965;18316326;19738611;20383146;17531812;21890473 7029 C9J461;C9J5D5;C9J872;C9J977;C9JCY5;C9JNB6;C9JTZ9;F8W6Z7;F8WAY9;H7C5C2;Q6R754;R4GN09 ABBA01059033;ABBA01059034;ABBA01059035;ABBA01059036;ABBA01059037;ABBA01059038;AC108679;AC112504;AC128648;AC133435;AK096450;AK303181;AK303634;AK314786;AL080206;AMYH01013546;AW673504;AY509596;BC007976;BC013993;BC021113;BC040991;BX647881;CH471052;DA321332;DC319314;L40386;NM_001178138;NM_001178139;NM_001178140;NM_001178141;NM_001178142;NM_006286;U18422;U35117 AAA69016;AAB60378;AAC50642;AAH21113;AAR89905;ABZ92192;BAH13914;BAH14001;BAI47157;CAB45775;EAW78977;EAW78978;EAW78979;EAW78980;EAW78981;NP_001171609;NP_001171610;NP_001171611;NP_001171612;NP_001171613;NP_006277;Q14188 Hs.379018 1648939;1680575;1688684;1769788;1849301;1850853;2120442;2171856;2184020;5014051;5014740;5015404;5015619;5015869;5015961;5016478;5017266;5020274;5020946;5022200;5022322;5022576;5022578;5022588;5037552;5115329 D11S2560;D11S3114;D15S1477;D17S610;D1S1361;D1S1423;D3S3889;D5S1597E;D8S2278;D8S2279;GDB:313261;GDB:434012;L17705;L17971;L18426;L18441;L18494;L18506;RH12808;RH48613;RH79762;RH91378;SHGC-52441;SHGC-57246;STS-H65503;STS-Z40750 DKFZp313O196;DP2;Dp-2;FLJ39131 OTTHUMP00000214071;OTTHUMP00000214072;OTTHUMP00000214074;OTTHUMP00000214123;OTTHUMP00000214124;OTTHUMP00000214250;OTTHUMP00000214253;OTTHUMP00000214255;transcription factor Dp-2 APPROVED protein-coding ENSG00000114126 11751 03696 602160 REVIEWED 1351703 TFE3 transcription factor binding to IGHM enhancer 3 The microphthalmia transcription factor/transcription factor E (MITF-TFE) family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors includes four family members: MITF, TFE3, TFEB and TFEC. The TEF3 protein encoded by this gene activates transcription through binding to the muE3 motif of the immunoglobulin heavy-chain enhancer. The TFEC protein forms heterodimers with the TEF3 protein and inhibits TFE3-dependent transcription activation. The TEF3 protein interacts with transcription regulators such as E2F3, SMAD3, and LEF-1, and is involved in TGF-beta-induced transcription, playing important roles in cell growth, proliferation, and osteoclast and macrophage differentiation. The TFE3 protein also activates hepatic IRS-2 gene, and induces hexokinase II (HK2) and insulin-induced gene 1 (INSIG1); it participates in insulin signaling and could be a therapeutic target for diabetes. This gene is also involved in chromosomal translocations, resulting in different fusion gene products in papillary renal cell carcinomas and alveolar soft part sarcomas, such as PRCC-TFE3, RCC17-TFE3, PSF-TFE3, NonO (p54nrb)-TFE3 and ASPL-TFE3.[provided by RefSeq, Dec 2009] X X p11.22 48771186 48787934 - 48886242 48900990 - 1599384;1580863;6480464 12917640 1685140;17353931;19422821;19332055;18930356;18510571;18358634;18278810;18176180;17905124;17046750;16766266;16737956;15782069;15747097;15324660;12748276;12551947;12477932;11930005;11801598;11748221;11467950;11358836;11313885;11244503;10973944;10644981;10557285;9806910;9765209;9393982;8986805;8872474;8336698;2338243;2044953;1672758;11818452;11018012;20620589;20871214;19396149;19788626;19809274;20014561;18029348;21555518;21279521;21299348;21209915;23192203;23288701;23598965;21070573;22446944;22456611;22498819;21693764;21602817;21835426;22173238;22207547;22037260;22297304;22995920 7030 B4DIA5;P19532 ABBA01046103;ABBA01046104;ABBA01046105;AC146820;AC231657;AC233294;AF196779;AK295497;AK310095;AK313540;AL161985;AMYH01022292;BC001532;BC026027;BX572102;CH471224;NG_016297;NM_006521;X51330;X96717;X97160;X99721 AAH26027;ABZ92029;ACE86523;ACE87202;BAG36317;BAG58417;CAA35714;CAA65478;CAA65800;CAA68061;CAI46207;EAW50711;EAW50712;EAW50713;EAW50714;NP_006512;P19532 Hs.730740 1663612;1793722;1848395;2113232;2180735 DXS8225;DXS9784;DXS9891E;PMC26398P1;SHGC-32925 RCCP2;RCCX1;TFEA;bHLHe33 OTTHUMP00000024272;Transcription factor for IgH enhancer;class E basic helix-loop-helix protein 33;transcription factor E family, member A;transcription factor E3 APPROVED protein-coding ENSG00000068323 11752 02439 300854;314310 REVIEWED 735415 TFEC transcription factor EC This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 7 7 7 q31.2 110382578 110478171 - 115362438 115458034 - 115575202 115670867 - 1580863;6480464 9256061;12853948;12690205;12477932;11818452;11467950;9806910;8336698;15118077;21670463 22797 B7Z757;O14948 AACC02000001;ABBA01057813;ABBA01057814;AC073141;AC096551;AJ608795;AK301479;AK313546;AMYH01017880;BC029891;BX538223;CH236947;CH471070;CR933605;D43945;NG_030005;NM_001018058;NM_001244583;NM_012252 AAH29891;AAS02009;AAS07449;BAA21908;BAG36322;BAH13493;CAE77680;CAI45926;EAL24366;EAW83490;EAW83491;EAW83492;NP_001018068;NP_001231512;NP_036384;O14948 Hs.125962 1786346 SHGC-155947 TCFEC;TFE-C;TFEC-L;TFECL;bHLHe34;hTFEC-L OTTHUMP00000025136;OTTHUMP00000068193;OTTHUMP00000196474;OTTHUMP00000212947;TFE-C;class E basic helix-loop-helix protein 34;hTFEC-L;transcription factor EC;transcription factor EC-like APPROVED protein-coding ENSG00000105967 11754 05294 604732 REVIEWED 1344553 TFP1 transferrin pseudogene 1 3 3 3 q22.1 131820530 131821838 + 134889577 134947787 + 133410566 133428518 + 3678832;19084217 100129696 ABBA01059164;AC083905;AMYH01013511;M22375;NG_008673 1338332;1763833 D3S3657;SHGC-147499 TFP APPROVED pseudo 11759 INFERRED 1344671 TFF1 trefoil factor 1 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 q22.3 42655460 42659713 - 43782391 43786644 - 1580863;625375;2291996;2291999;2292003;2292004;2292010;2292005;2292012;2298572;2298570;2298573;2298569;2298571;2292002;6480464;6484113 8836141;18283638;16467092;17624412;9066601;11903739;15375487;11350545;9221798;10727981;7965392;10835496;10458410;16267614 18313384;21472131;2303034;9043862;15831516;19172695;19172291;19132993;18927283;18676680;18662686;18644870;18543253;18515572;18502057;18322525;17982272;17651883;17610997;17317669;17143957;16861234;16830362;16718800;16715141;16713569;16474375;16308573;16189514;16142316;16142311;15967118;15924415;15849833;15821928;15578191;15541729;15489334;15340161;15177868;15123808;15115253;14756547;14563942;12613926;12477932;12407144;12379766;12034770;10982763;10950923;10830953;10673290;9855711;9355742;9096235;9070946;8521850;8405856;6324130;3838275;3822834;3261981;3146413;3041593;2311759;2185238;1707960;9582279;16009131;15989967;15019994;15304487;15339660;15345777;15694343;10490106;21451135;20132413;18722547;18846421;19170196;19589871;19625176;19692168;19724895;19851296;20063012;20198315;20213275;21067798;20112343;20300195;16341674;20981699;21228366;21111741;21378170;21490402;20494980;21358676;21747314;16957778;22642590;22093877;21870107;22158540;22382029;21946330;22944057;22842654;23266572;23291975;22286382;21982860;23329884 7031 P04155 AB038162;ABBA01014173;AMYH01012267;AP001623;AP001746;BC032811;BQ083523;BU539534;CH471079;M12075;NM_003225;X00474;X05030;X52003 AAA52402;AAH32811;BAA95532;BAB13729;CAA25155;CAA28695;CAA36254;EAX09569;NP_003216;P04155 Hs.162807 1741759;1742129;1794714;2119324 GDB:185151;GDB:192309;PMC350567P1;SHGC-35308 BCEI;D21S21;HP1.A;HPS2;pNR-2;pS2 OTTHUMP00000109350;breast cancer estrogen-inducible protein;breast cancer estrogen-inducible sequence;gastrointestinal trefoil protein pS2;polypeptide P1.A;protein pS2;trefoil factor 1;trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) APPROVED protein-coding ENSG00000160182 11755 00219 113710 REVIEWED 1319997 TFEB transcription factor EB 6 6 p21 41759694 41810776 - 41651716 41703997 - 1580863;6480464 2115126;17285572;15644781;15489334;15118077;14702039;14574404;12837690;12719541;12477932;10707962;9806910;8530024;18839057;19396149;19556463;21617040;22343943;22576015;21889421;21752829;22101272;22446944;22692423;23381957;23444366;22786682 7942 B0QYS6;B0QYS7;B1AKA7;B1AKA9;B1AKB1;B1AKB2;B1AKB4;B1AKB5;P19484;Q709A8;Q709A9 AA235980;ABBA01050748;ABBA01050749;ABBA01050750;AJ535461;AJ608786;AJ608787;AJ608788;AJ608789;AJ608790;AJ608791;AJ608792;AJ608793;AJ608794;AK095061;AK298390;AK310063;AL035588;AL365205;AMYH01016297;AMYH01016298;AW294760;BC006225;BC032448;BU527754;CH471081;CT000098;M33782;NM_001167827;NM_001271943;NM_001271944;NM_001271945;NM_007162 AAA36730;AAH06225;AAH32448;ABZ92196;BAG52979;BAG60625;CAD59560;CAE77672;CAE77673;CAE77674;CAE77675;CAE77676;CAE77677;CAE77678;CAE77679;CAE77681;EAX04055;EAX04056;EAX04057;EAX04058;NP_001161299;NP_001258872;NP_001258873;NP_001258874;NP_009093;P19484 Hs.485360 1298134;1675690;1703182;1742149;1796924;1800596;1801112;1801346;1801898;1803106;1804178;1806740;1807938;1808216;1808364;1809218;1811054;1811296;1811500;1812148;1812712;1813218;1815300;1816610;1816678;1817538;1818416;1818472;1818994;1819048;1820332;1821112;1821778;1823798;1823856;1824146;1824616;1824860;1826752;1828046;1828644;1829518;1829520;1829672;1830044;1833058;1833462;1833904;1834288;1835558;1837006;1837130;1837228;1839574;1839702;1839894;1840234;1840630;1842774;1843190;1844198;1844944;1845732;1846494;1979238;1979240;1979242;1979244;1979246;1979248;1979250;1979252;1979254;1979256;1979258;1979260;1979262;1979264;1979266;1979268;1979270;1979272;1979274;1979276;1979278;1979280;1979282;1979284;1979286;1979288;1979290;1979292;1979294;1979296;1979298;1979300;1979302;1979304;1979306;1979308;1979310;1979312;1979314;1979316;1979318;1979320;1979322;1979324;1979326;1979328;1979330;1979332;1979334;1979336;1979338;1979340;1979342;1979344;1979346;1979348;1979350;1979352;1979354;1979356;1979358;1979360;1979362;1979364;1979366;1979368;1979370;1979372;1979374;1979376;1979378;1979380;1979382;1979384;1979386;1979388;1979390;1979392;1979394;1979396;1979398;1979400;1979402;1979404;1979406;1979408;1979410;1979412;1979414;1979416;1979418;1979420;1979422;1979424;1979426;1979428;1979430;1979432;1979434;1979436;1979438;1979440;1979442;1979444;1979446;1979448;1979450;1979452;1979454;1979456;1979458;1979460;1979462;1979464;1979466;1979468;1979470;1979472;1979474;1979476;1979478;1979480;1979482;1979484;1979486;1979488;1979490;1979492;1979494;1979496;1979498;1979500;1979502;1979504;1979506;1979508;1979510;1979512;1979514;1979516;1979518;1979520;1979522;1979524;1979526;1979528;1979530;1979532;1979534;1979536;1979538;1979540;1979542;1979544;1979546;1979548;1979550;1979552;1979554;1979556;1979558;1979560;1979562;1979564;1979566;1979568;1979570;1979572;1979574;1979576;1979578;1979580;1979582;1979584;1979586;1979588;1979590;1979592;1979594;1979596;1979598;1979600;1979602;1979604;1979606;1979608;1979610;1979612;1979614;1979616;1979618;1979620;1979622;1979624;1979626;1979628;1979630;1979632;1979634;1979636;1979638;1979640;1979642;1979644;1979646;1979648;1979650;1979652;1979654;1979656;1979658;1979660;1979662;1979664;1979666;1979668;1979670;1979672;1979674;1979676;1979678;1979680;1979682;1979684;1979686;1979688;1979690;1979692;1979694;1979696;1979698;1979700;1979702;1979704;1979706;1979708;1979710;2172051;2173384;2175620;2216128;2216130;2216132;2216134;2216136;2216138;2216140;2216142;2216144;2216146;2216148;2216150;2216152;2216154;2216156;2216158;2216160;2216162;2216164;2216166;2216168;2216170;2216172;2216174;2216176;2216178;2216180;2216182;2216184;2216186;2216188;2216190;2216192;2216194;2216196;2216198;2216200;2216202;2216204;2216206;5037552 D6S1017;D8S2279;ECD01159;ECD01425;ECD01545;ECD01830;ECD02444;ECD03009;ECD04328;ECD04944;ECD05089;ECD05163;ECD05599;ECD06525;ECD06646;ECD06750;ECD07079;ECD07367;ECD07629;ECD08686;ECD09347;ECD09382;ECD09819;ECD10266;ECD10297;ECD10562;ECD10590;ECD11241;ECD11633;ECD11975;ECD12991;ECD13020;ECD13169;ECD13406;ECD13529;ECD14490;ECD15146;ECD15449;ECD15890;ECD15891;ECD15968;ECD16155;ECD17671;ECD17874;ECD18098;ECD18292;ECD18935;ECD19667;ECD19730;ECD19781;ECD20970;ECD21034;ECD21130;ECD21301;ECD21505;ECD22594;ECD22803;ECD23312;ECD23688;ECD24085;ECD24468;GDB:192406;REN60510;REN60511;REN60512;REN60513;REN60514;REN60515;REN60516;REN60517;REN60518;REN60519;REN60520;REN60521;REN60522;REN60523;REN60524;REN60525;REN60526;REN60527;REN60528;REN60529;REN60530;REN60531;REN60532;REN60533;REN60534;REN60535;REN60536;REN60537;REN60538;REN60539;REN60540;REN60541;REN60542;REN60543;REN60544;REN60545;REN60546;REN60547;REN60548;REN60549;REN60550;REN60551;REN60552;REN60553;REN60554;REN60555;REN60556;REN60557;REN60558;REN60559;REN60560;REN60561;REN60562;REN60563;REN60564;REN60565;REN60566;REN60567;REN60568;REN60569;REN60570;REN60571;REN60572;REN60573;REN60574;REN60575;REN60576;REN60577;REN60578;REN60579;REN60580;REN60581;REN60582;REN60583;REN60584;REN60585;REN60586;REN60587;REN60588;REN60589;REN60590;REN60591;REN60592;REN60593;REN60594;REN60595;REN60596;REN60597;REN60598;REN60599;REN60600;REN60601;REN60602;REN60603;REN60604;REN60605;REN60606;REN60607;REN60608;REN60609;REN60610;REN60611;REN60612;REN60613;REN60614;REN60615;REN60616;REN60617;REN60618;REN60619;REN60620;REN60621;REN60622;REN60623;REN60624;REN60625;REN60626;REN60627;REN60628;REN60629;REN60630;REN60631;REN60632;REN60633;REN60634;REN60635;REN60636;REN60637;REN60638;REN60639;REN60640;REN60641;REN60642;REN60643;REN60644;REN60645;REN60646;REN60647;REN60648;REN60649;REN60650;REN60651;REN60652;REN60653;REN60654;REN60655;REN60656;REN60657;REN60658;REN60659;REN60660;REN60661;REN60662;REN60663;REN60664;REN60665;REN60666;REN60667;REN60668;REN60669;REN60670;REN60671;REN60672;REN60673;REN60674;REN60675;REN60676;REN60677;REN60678;REN60679;REN60680;REN60681;REN60682;REN60683;REN60684;REN60685;REN60686;REN60687;REN60688;REN60689;REN60690;REN60691;REN60692;REN60693;REN60694;REN60695;REN60696;REN60697;REN60698;REN60699;REN60700;REN60701;REN60702;REN60703;REN60704;REN60705;REN60706;REN60707;REN60708;REN60709;REN60710;REN60711;REN60712;REN60713;REN60714;REN60715;REN60716;REN60717;REN60718;REN60719;REN60720;REN60721;REN60722;REN60723;REN60724;REN60725;REN60726;REN60727;REN60728;REN60729;REN60730;REN60731;REN60732;REN60733;REN60734;REN60735;REN60736;REN60737;REN60738;REN60739;REN60740;REN60741;REN60742;REN60743;REN60744;REN60745;REN60746;RH46782;RH93544;SGC32293;SHGC-35331;TFEB_1087;WI-21675;stSG634932;stSG634933;stSG634934;stSG634936;stSG634937;stSG634938;stSG634939;stSG634940;stSG634941;stSG634942;stSG634943;stSG634944;stSG634945;stSG634946;stSG634947;stSG634948;stSG634949;stSG634950;stSG634951;stSG634953;stSG634954;stSG634956;stSG634957;stSG634958;stSG634959;stSG634960;stSG634961;stSG634962;stSG634963;stSG634964;stSG634965;stSG634966;stSG634967;stSG634968;stSG634969;stSG634970;stSG634971;stSG634972;stSG634973;stSG634974 AlphaTFEB;TCFEB;bHLHe35 OTTHUMP00000016379;OTTHUMP00000043540;OTTHUMP00000043541;OTTHUMP00000043542;OTTHUMP00000071325;OTTHUMP00000071327;OTTHUMP00000196417;OTTHUMP00000196419;T-cell transcription factor EB;class E basic helix-loop-helix protein 35;transcription factor EB protein-coding ENSG00000112561 11753 02847 600744 VALIDATED 731368 TFF2 trefoil factor 2 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 q22.3 42639535 42644176 - 43766466 43771208 - 1580863;2291999;6480464 16467092 15177880;8836141;9043862;19541923;19344006;19204726;19172695;19064997;17982272;17332476;17118693;16830362;16786324;16718800;16359755;16166422;16142316;15984970;15578191;15489334;15256384;15177883;15115253;15101998;14759512;13679442;12717829;12613926;12477932;12054609;10950923;10830953;10716671;10189055;9855711;9781055;9272936;9070946;9050913;8405856;7961636;7566098;2303034;1505966;11786503;21472131;20063012;17207965;16341674;20801119;21228366;23000412;21461878;22159958;22329990;22286382 7032 Q03403 AA307808;AB038162;ABBA01014173;AMYH01012267;AP001623;BC032820;BM817851;BM853946;CH471079;NM_005423;U47292;X51698 AAB05397;AAH32820;ADQ32849;BAB13730;CAA35995;EAX09570;NP_005414;Q03403 Hs.2979 1660242;1773586;5113844 RH66536;RH80234;STS-U47292 SML1;SP OTTHUMP00000109347;spasmolysin;spasmolytic polypeptide;spasmolytic protein 1;trefoil factor 2;trefoil factor 2 (spasmolytic protein 1) APPROVED protein-coding ENSG00000160181 11756 01682 182590 REVIEWED 736458 TFF3 trefoil factor 3 (intestinal) Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008] 21 21 q22.3 42605232 42608775 - 43731777 43735706 - 1580863;2291999;6480464;6484113 16467092 8454642;9043862;19528408;19238529;19172695;18979216;18682706;18676680;18506086;18502057;18353006;18326859;18258687;17762162;17216196;17018241;17008636;16830362;16410243;16278592;16166422;16142316;16142311;16110118;15733066;15665295;15645121;15578191;15515157;15489334;15340161;15083192;14968359;14690424;14637006;12663147;12613926;12477932;12395334;12006524;11837892;11235998;11193208;10950923;10830953;10051448;9855711;9070946;8940297;8833157;8641134;8346203;7718582;7669039;20132413;17217669;20499178;19170196;19625176;19692168;19758246;20063012;20237496;21472131;20112343;20229017;21170267;21170268;22572548;22516806;21520112;21125297;21743959;22341453;21829008;22246423;21769478;22354994;22389405;22286382;22476621;23329884 7033 H7BYT0;Q07654 AB038162;ABBA01014173;AF432265;AMYH01012267;AP001623;AP001746;BC017859;BQ016069;CH471079;L08044;L15203;NM_003226;U25657 AAA36766;AAA59981;AAA83628;AAH17859;AAL28111;ABM82889;ABM86079;BAA95531;BAB13731;EAX09571;EAX09572;NP_003217;Q07654 Hs.82961 2119117;2159927 D21S1820;SHGC-51863 HITF;ITF;P1B;TFI;hP1.B OTTHUMP00000109348;OTTHUMP00000109349;polypeptide P1.B;trefoil factor 3 APPROVED protein-coding ENSG00000160180 11757 02797 600633 REVIEWED 1320255 TFG TRK-fused gene There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010] 3 3 q12.2 101910850 101950501 + 100428134 100467811 + 1580863;6480464;6907045;7240710 12761501;7565764;16547966;16341674;16189514;16169070;15557341;15188455;14702039;12477932;12237775;11943732;11591653;10556217;9169129;22250051;22883144;21145461;16344560;16055720;22863883;19797732;19135240;18624398;17683050;21139048;21890473;21906983;22145905;19542561;23479643;17110338;21988832;22792062;23000965;23455922;23553329;19380743;22581839 10342 C9JJP5;C9JTY3;C9JUE0;Q05BK6;Q92734 AB097040;AB097041;AB731569;AB731570;ABBA01061786;ABBA01061787;AC069223;AK093456;AK123588;AK127920;AMYH01013358;BC001483;BC009241;BC023599;BC041600;BE409447;BM746125;BQ008360;BT007428;CH471052;CR456781;DA704111;NG_027821;NM_001007565;NM_001195478;NM_001195479;NM_006070;Y07968 AAH01483;AAH09241;AAH23599;AAH41600;AAP36096;ABM83120;ABM86315;BAC77393;BAC77394;BAG52721;BAM48926;BAM48927;CAA69264;CAG33062;EAW79813;EAW79814;EAW79815;EAW79816;EAW79817;NP_001007566;NP_001182407;NP_001182408;NP_006061;Q92734 Hs.518123 1740245;2154103 D3S1683;NIB1880 FLJ36137;HMSNP;SPG57;TF6;TRKT3 OTTHUMP00000214045;OTTHUMP00000214046;OTTHUMP00000214047;OTTHUMP00000214048;TRK-fused gene protein;TRKT3 oncogene;protein TFG APPROVED protein-coding ENSG00000114354 11758 03932 602498;604484;612237 REVIEWED 1322916 TFIP11 tuftelin interacting protein 11 TFIP11 is a nuclear speckle-localized protein that may play a role in spliceosome disassembly in Cajal bodies (Stanek et al., 2008 [PubMed 18367544]).[supplied by OMIM, Apr 2009] 22 22 22 q12.1 10691755 10712292 - 25217893 25238437 - 26887893 26908437 - 1580863;6480464 11256614;11991638;19086053;18781068;18367544;17081983;16381901;15868102;15489336;15489334;15461802;15302935;12529303;12477932;11230166;11076863;11042152;10806191;10591208;19857462;20398908;20811636;22939629;17043677;20360068;19471022;21139048;21693764;21890473;21906983 24144 F6SQZ1;F6UKU9;F6UQ07;F6XM96;H0Y4U8;Q9UBB9 ABBA01055200;ABBA01055201;AF070662;AK025443;AK025739;AK298303;AK299964;AL050258;AL080147;AMYH01012684;BC011599;BC033080;BT007274;BX354919;CH471095;CT841511;NM_001008697;NM_012143;Z95115;Z99714 AAD20968;AAH11599;AAH33080;AAP35938;ABM83177;ABM87848;BAG60557;BAG61790;CAB43360;CAB45740;CAI17878;CAJ86441;CAK54393;CAK54692;CAL37965;CAQ09360;EAW59722;EAW59723;EAW59724;NP_001008697;NP_036275;Q9UBB9 Hs.20225 1660916;1665785;1698092;2175031 A007C16;RH102578;RH66366;STS-N30363 FLJ22086;NTR1;Spp382;TIP39;bK445C9.6;hNtr1 OTTHUMP00000198650;OTTHUMP00000198850;OTTHUMP00000198851;OTTHUMP00000198852;STIP-1;septin and tuftelin-interacting protein 1;tuftelin-interacting protein 11 APPROVED protein-coding ENSG00000100109 17165 11628 612747 VALIDATED 1352636 TGCT1 testicular germ cell tumor susceptibility 1 7240710 10655070 50830 1338302 DXS8043 13466 1344546 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) This gene encodes a protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. The encoded protein is glycosylated and predominantly found in the vascular endothelium and plasma in both free forms and complexed with plasma lipoproteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been confirmed. [provided by RefSeq, Jul 2008] 2 2 q32 188037202 188127464 - 188328957 188419219 - 1578543;1578547;1580863;6480464;6484113;6907045 16270631;11425765 19689998;17196206;12193974;7598447;2271516;19065458;19411818;19401682;19277407;19244162;19238444;19169266;19132232;19017259;19016004;19012190;19007969;18977990;18695356;18690350;18677291;18600090;18419747;18327407;18310227;18217145;18180609;18067603;18045239;18029348;17951326;17931693;17890962;17762532;17704111;17702963;17469034;16246254;16113753;15892865;15886798;15845911;15817451;15604416;15489334;15467908;15351861;15340161;15339683;15307537;14656922;14610342;12893029;12871406;12818258;12787023;12540955;12482841;12477932;12428111;12408975;12270558;12195688;17180732;17082321;17003923;16879232;16765424;16516912;16488980;16431924;16380494;16344560;16335952;16261634;16247609;22461171;12117418;12038800;12028585;11864704;11848461;11816723;11776329;11776326;11772005;11697721;11693665;11686353;11460016;11380428;11166776;11057878;10996745;10922378;10859319;10856975;10391209;10348905;9867356;9252393;9242660;9199408;8639592;8327992;8104873;7841311;7706485;7498454;3492226;3422166;3024756;2927510;2553722;2452157;2002045;1993173;1558967;1353057;2781520;21029363;19913121;20628086;20088940;19350127;19467658;19630792;19631649;20002538;20062932;20128871;20444258;20453636;20519147;20523161;20140262;20431849;20442653;22627666;17207965;19859836;20492471;21378988;20978710;20034913;21293010;22836130;22985614;21474669;22658294;22749962;21344386;21132373;21555871;21664032;21868574;21849050;21895962;22144186;21979881;22178066;22363056;19322201;21832049;22449009;22632032;22939629;23327927;23374966;22900482;22918506;23074276;22932941;23071754;23038262;23530052 7035 C9J103;C9JBB3;C9JKV3;C9JP39;C9JQ14;C9JT76;P10646 AB035127;AB209866;ABBA01062350;ABBA01062351;AC007319;AC098485;AF021834;AK130306;AK313562;AMYH01011340;AU136083;AY263365;BC014332;BC015514;CA418214;CH471058;J03225;M58650;M59499;NG_029714;NM_001032281;NM_006287;S63486 AAA52022;AAA59480;AAA59526;AAD01700;AAH15514;AAO89075;AAY14807;ADQ31578;BAD93103;BAG36336;EAX10921;EAX10922;EAX10923;NP_001027452;NP_006278;P10646 Hs.516578 1673185;1675925;1692484;1716247;2113910;2114475;2118530;2148356;2170593;2175443;5021119 A007F18;AL033893;D2S2820;RH121151;RH44998;RH93109;SGC32902;SHGC-32709;SHGC-35690;TFPI;WI-17615 EPI;LACI;TFI;TFPI1 OTTHUMP00000163472;OTTHUMP00000205424;OTTHUMP00000205429;OTTHUMP00000205430;OTTHUMP00000205431;anti-convertin;extrinsic pathway inhibitor;lipoprotein-associated coagulation inhibitor;tissue factor pathway inhibitor APPROVED protein-coding ENSG00000003436 11760 01064 152310 REVIEWED 1320887 TFR2 transferrin receptor 2 This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 7 7 q22 100055975 100077109 - 100218039 100239173 - 1599386;1580863;6480464;7240710 10802645 10409623;15319276;19254567;19250966;19019709;18762941;18565178;18450729;18353247;18245657;18083267;17956864;17847004;17298224;17202145;17182845;17042772;16932966;16893896;16706826;16634833;16493621;16085060;16054692;15987753;15894659;15863206;15836704;15785438;15749661;15521925;15486069;15319290;15317665;15084147;15015967;14702039;12921947;12704209;12681966;12667993;12656741;12531241;12477932;12406888;12393650;12150153;12139409;12134060;12130528;11675342;11358388;11313241;11027676;10748106;10638746;9799793;9465039;19913121;20587610;20628086;19292036;19729324;19787796;19819738;19820697;19828835;19862010;19924283;20096706;19759876;19859668;21208937;20634490;20220060;21518504;21963094;21988832;21890473;21906983;22323359;21849092;20301523;22728873;22890139;23222517 7036 E7ET36;H7C544;Q9UP52 AACC02000084;ABBA01013195;ABBA01013196;AC099394;AF067864;AF085928;AK000421;AK022002;AMYH01017740;BC142630;BC150192;BI917390;BX384750;CH236956;CH471091;DQ496110;DR004213;NG_007989;NM_001206855;NM_003227 AAD45561;AAI42631;AAI50193;ABF47099;BAA91153;BAB13951;EAW76506;EAW76507;EAW76508;EAW76509;EAW76510;NP_001193784;NP_003218;Q9UP52 Hs.544932 1672273;2179636;2186824;2218822;5022217;5113343 D7S2897;GDB:1317244;RH45450;RH47495;RH80164;TFR2__5247 HFE3;MGC126368;TFRC2 OTTHUMP00000215913;transferrin receptor protein 2 APPROVED protein-coding ENSG00000106327 11762 05282 604250;604720 REVIEWED 6481102 TGFA-IT1 TGFA intronic transcript 1 (non-protein coding) 100874273 AC017084 miscrna 41389 736798 TFPI2 tissue factor pathway inhibitor 2 This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 7 7 q22 93353678 93358001 - 93514709 93520303 - 724777;1580863;6480464 8945635 19435926;17372906;3276312;22203034;21621497;21515313;8914837;19288010;19212621;19103149;19081094;18810851;18480470;18401718;18097563;18053161;17558445;17464989;17352822;17208328;17138934;17023682;16965396;16641089;16580726;16303743;16247609;15932872;15685245;15592528;15489334;15467913;15231748;15221977;15183047;14983234;14970225;14702039;14678821;14623891;14525759;12921785;12881707;12876637;12853948;12787920;12757776;12738994;12690205;12632077;12606321;12477932;11945080;11840337;11834519;11342222;10496984;10026147;9548189;9445254;8661135;8555184;8159751;7896752;6884838;20537494;14558946;19102937;19571260;19902129;19936309;20113832;21224345;20347477;20335518;20530429;20377370;21036731;19763915;20018303;21062455;23300768;21530612;21820798;21984372;16344560;21983100;22208663;22866126;22052167;22110206;22449186;22232300;20015200;22399594;23108564 7980 F5H3J8;H7C4A3;P48307;Q8NAK6 AACC02000014;ABBA01045787;AC002076;AF217542;AK024817;AK075425;AK075427;AK092499;AK129833;AK313260;AMYH01017695;AY044097;AY691946;BC005330;BC034155;CH236949;CH471091;D29992;DA831865;DA833200;L27624;NG_032914;NM_001271003;NM_001271004;NM_006528 AAA20094;AAH05330;AAH34155;AAK13254;AAK72693;AAS02022;AAU04568;ABM83459;ABM86670;BAA06272;BAC03906;BAG36070;EAL24140;EAW76808;EAW76809;EAW76810;EAW76811;NP_001257932;NP_001257933;NP_006519;P48307 Hs.438231 1646799;1655245;1687564;1695032;1695054;1696874;1769100;1855879;2114380;2179260;2182907;2185569 D7S2733;D7S2782;D7S2904;G44730;G44757;G49182;RH36110;RH78297;RH91430;SHGC-34072;STS-D29992;TFPI2 FLJ21164;PP5;REF1;TFPI-2 OTTHUMP00000162595;OTTHUMP00000208602;placental protein 5;retinal pigment epithelium cell factor 1;tissue factor pathway inhibitor 2 APPROVED protein-coding ENSG00000105825 11761 08962 600033 REVIEWED 733579 TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 19 19 19 q13 51650001 51659116 - 59302142 59310848 - 54610320 54619055 - 6480464 17395368;17081983;17041757;16230350;16189514;15489334;21832049;22723017;12477932;10644725;10086727;16229834;17643375;19615732;17207965;22939629;21303910;17721549;18922472;19471022;23251661 29844 A8MTQ3;F8WDC1;G5E9B5;P0C1Z6 ABBA01068175;AC012314;AF052052;AK310627;AK310647;AMYH01009976;BC001728;BC004281;BC007776;BI820344;BQ027375;CH471135;NM_013342 AAD45182;AAH04281;AAH07776;ADQ31711;EAW72185;EAW72186;EAW72187;EAW72188;EAW72189;NP_037474;P0C1Z6 Hs.590939;Hs.745267 1805376;1810342;1812438;1819780;1831604;1838320;1838470;2041034;2041036;2041038;2041040;2041042;2041044;2041046;2041048;2041050;2041052;2041054;2041056;2041058;2041060;2041062;2041064;2041066;2041068;2041070;2041072;2041074;2041076;2041078;2041080;2041082;2041084;2041086;2041088;2041090;2041092;2041094;2041096;2041098;2041100;2041102;2041104;2041106;2041108;2041110;2041112;2041114;2041116;2041118;2103568;2103570;2103572;2103574;2103576;2103578;2103580;2103582;5024569 ECD03635;ECD06163;ECD07226;ECD10960;ECD16939;ECD20334;ECD20409;REN91551;REN91552;REN91553;REN91554;REN91555;REN91556;REN91557;REN91558;REN91559;REN91560;REN91561;REN91562;REN91563;REN91564;REN91565;REN91566;REN91567;REN91568;REN91569;REN91570;REN91571;REN91572;REN91573;REN91574;REN91575;REN91576;REN91577;REN91578;REN91579;REN91580;REN91581;REN91582;REN91583;REN91584;REN91585;REN91586;REN91587;REN91588;REN91589;REN91590;REN91591;REN91592;REN91593;RH93802;stSG605791;stSG605792;stSG605793;stSG605794;stSG605795;stSG605796;stSG605797;stSG605798 FB1;INO80F;amida INO80 complex subunit F;OTTHUMP00000071104;OTTHUMP00000194971;OTTHUMP00000194972;TCF3 fusion partner;amida, partner of the E2A protein-coding ENSG00000105619 13630 10266 609519 VALIDATED 735819 TG thyroglobulin Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009] 8 8 q24 133948387 134216325 + 133879205 134147143 + 1600141;1580863;5147557;6480464;6907045;7240710 1752952;21683551 16646680;22561518;7593451;21646855;3016640;14718574;19509106;19416000;19404338;19240061;19194833;19034705;18755875;18656705;18636294;18631008;18566446;18514160;18385936;18271683;18243140;18166820;17911408;17902201;17671725;17644307;17550957;17526951;17278897;17244789;16679516;22784463;16477365;16421571;16403815;16344560;16271015;16260629;16230285;15785246;15769978;15579800;15579752;15562032;15272924;15070908;14764582;14633662;14557492;12973666;12819023;12804099;12709678;12679418;12477932;12477859;12387814;12022704;11935320;11916630;11581009;11294872;11124863;10636893;10524569;10487692;10448091;10199792;10049727;9492085;9287346;9186272;9006956;8797845;8615697;8530385;8269951;8094490;7793989;4043966;3971976;3967888;3681978;3595599;3211159;2991855;2914619;2760035;1939080;1639210;1371467;19438905;19633549;19730683;19776016;19837936;20089614;20173019;20215770;20353937;20379614;4006519;20182447;19438904;20486066;20573721;20864102;20960158;20972722;22662162;20972728;15494458;21039721;21372558;21476894;21636579;21757724;17532758;22259066;22098450;21958696;23242039;17854396;22265031;22136265;22136267;22170797;22517745;22832960;23489940;23345097;23360821;23164529 7038 E5RG33;E7EVM0;F5GWW5;H0YB42;H0YBC5;H0YBJ2;H0YBL4;H0YBQ6;H0YBR7;H0YBY1;Q9UNY3 AB209159;ABBA01014200;ABBA01014201;ABBA01014202;ABBA01014203;ABBA01014204;AF080484;AF230666;AF230667;AF235100;AF237421;AF255396;AF305872;AK299197;AK303666;AK303667;AMYH01019037;AU141420;AU141607;AU141923;AU142151;BC127887;BC140933;CH471060;NG_015832;NM_003235;S40807;S80793;U93033;X02154;X02749;X05615 AAB22685;AAB50656;AAC51924;AAD50912;AAF64045;AAF71743;AAI27888;AAI40934;BAD92396;BAG64665;BAG64666;BAH12966;CAA26089;CAA26527;CAA29104;EAW92156;EAW92157;EAW92158;NP_003226;P01266 Hs.654591 1339719;1340645;1341222;1341759;1342341;1650843;1685405;1694532;1722115;1722525;1722943;1723061;1739113;1741577;1757497;1762413;1765521;1770516;1771424;1786516;1790261;1794442;2117835;2117837;2117839;2133485;2133487;2135396;2143551;2148358;2172622;2186046;5118057;5127514;7185587 A002K18;A005O27;AFM116YH8;D17S1775;D1S466;D8S1538;D8S1740;D8S284;D8S378;D8S529;G20379;G32172;G43055;G60100;G60189;G60569;GDB:181542;GDB:679375;HSC06D062;IB3077;KS615;PMC31324P1;RH11483;RH123517;RH35804;RH47284;RH71465;SHGC-101673;SHGC-144869;SHGC-146247;SHGC-149000;SHGC-32844;WI-3009;WI-3500 AITD3;TGN OTTHUMP00000227159;thyroglobulin APPROVED protein-coding ENSG00000042832 11764 01782 188450;274700;608175 REVIEWED 733275 TFRC transferrin receptor (p90, CD71) 3 3 q29 197260744 197293338 - 195776155 195809032 - 1580863;2292016;2292018;2292028;2292024;2292027;2292036;2292017;2292021;2292026;2292022;2292023;2298574;2292020;2292025;1601529;6480464;6484113;6907045 17417667;14965443;18373698;12394762;18395385;16953838;15514585;11299801;2174150;9739406;9373912;3493065;11497259;8050820;17417667 1871153;6090955;19290554;19258483;19223469;19135902;19021568;18694648;18677382;18676680;18665828;18635001;18621559;18586377;15229288;14612438;18579154;18541582;18445768;18411250;18166587;18155160;18003730;17994011;17956864;17927572;17493600;17407154;17327328;17287727;17213182;17173037;17125792;17081065;17062801;16893896;16788758;16704960;16564538;16508012;16354665;16344560;16335952;16332734;16326028;16325581;16271988;16092918;16085060;15987753;15951569;15941956;15924420;15894659;15880641;15775751;15668490;15623846;15592455;15525538;15489334;15371488;15349772;15313461;14980223;14769051;14752097;14727087;14722085;14705946;14691533;12904899;12767055;12707725;12667138;12553165;12538733;12477932;12473103;12445428;12406888;12372835;12222675;12210842;12200453;12163483;12071581;12032198;11997026;11944994;11929045;11891802;11800564;11783942;11702220;11096344;10638746;10531064;10377239;10192390;9782058;9465039;9448136;9428630;9414644;9358047;9136890;9120267;8671324;8631371;8408022;8394993;7994765;7864799;7789520;7780197;6309000;6273413;6268632;6094009;3582362;3568132;3013873;3007223;2507316;2398066;2327986;2298808;2229063;1421757;1421756;1380674;15784911;9341758;10451539;15569681;11027676;17059402;22090097;22167341;19913121;20587610;20628086;20716799;20369475;21149283;20041272;12857860;14705953;17872946;17877204;19066835;19170196;19238537;19394251;19625176;19692168;19693784;19711434;19728552;19819738;19828835;19838776;19862010;19864458;19875448;19917294;20001236;20071291;20133674;20424473;20497464;19859668;19308738;20604729;2874839;20870579;21187331;21323588;21415701;21165552;15047825;21036394;20821024;21182205;23016877;7744867;23042282;21252943;22356162;21674799;20360068;21081666;21750710;21859709;20086096;21788477;21875946;22278244;21297444;19738201;19968988;21963094;22304920;22623428;23384347;18781797;21139048;21693764;21906983;21987572;21849092;19471022;21384276;22308388;21523522;22768652;22158540;21870996;11988743;18362144;20085643;22096579;22525445;18218624;20161783;20634958;22763969;14592831;23222517;23606747;22750506;23160040;20880565;20980512;21922073;22268729;22505724 7037 A8K6Q8;F5H6B1;F8WBE5;G3V0E5;H7C3V5;P02786;Q7Z3E0 AB209254;ABBA01033706;ABBA01033707;ABBA01033708;AC024937;AF187320;AK291723;AK294758;AK309923;AMYH01013793;BC001188;BX537966;CH471191;CK724857;DA460386;DQ496099;DT219054;M11507;NM_001128148;NM_003234;X01060 AAA61153;AAF04564;AAH01188;ABF47088;ABM83785;ABM87107;BAD92491;BAF84412;BAH11872;CAA25527;CAD97930;EAW53670;EAW53671;EAW53672;EAW53673;NP_001121620;NP_003225;P02786 Hs.529618 1644841;1649883;1668230;1735210;1741465;1788702;1853103;1856129;2108959;2151013;2152598;2174008 D3S2868E;D3S4193;D3S4248;G22035;GDB:181229;RH135817;SHGC-58250;SHGC-77671;SHGC-77673;SHGC-77676;STS-H53118;TFRC_3331.2 CD71;T9;TFR;TFR1;TR;TRFR;p90 OTTHUMP00000208523;OTTHUMP00000208524;OTTHUMP00000208525;T9;TR;p90;transferrin receptor;transferrin receptor protein 1 protein-coding ENSG00000072274 11763 01812 190010 VALIDATED 1315219 TGDS TDP-glucose 4,6-dehydratase 13 13 13 q32.1 76074266 76096482 - 94024309 94046512 - 95226308 95248511 - 1580863;6480464 17474147;19027726;15489334;15057823;12477932;22939629;21906983 23483 O95455;Q05DQ3;Q2TU31 ABBA01027209;ABBA01027210;AF048686;AJ006068;AK303439;AK313251;AL139318;AL359708;AMYH01005301;AY544125;BC005284;BC033675;CH471085;NM_014305 AAD50061;AAH05284;AAH33675;AAT11156;ADZ15877;BAG36061;BAH13961;CAA06840;EAX08940;EAX08941;NP_055120;O95455 Hs.12393 1697630 RH102327 SDR2E1;TDPGD OTTHUMP00000043625;dTDP-D-glucose 4,6-dehydratase;growth-inhibiting protein 21;short chain dehydrogenase/reductase family 2E, member 1 protein-coding ENSG00000088451 20324 15494 VALIDATED 736273 TGFA transforming growth factor, alpha This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 2 2 p13 70527924 70634613 - 70674412 70781147 - 1578553;1578554;1578555;1578628;1578629;1578630;1580863;1578721;2317471;2317476;2317483;2317473;2317470;2317486;2317490;2317468;2317472;2317963;5490965;6480464;6484113;6907045 15090366;15887112;11576338;10207942;10441618;9700116;12370739;9060843;19248822;18956197;1401070;9542514;17968906;16734725;17785207;8712689;15982853;19506583 20871631;9285829;21404459;14616544;12960509;12907656;12896876;12820957;12771184;12709435;12657625;12652527;12619035;12607604;12606307;12590602;12558814;12477932;12468378;12297049;12223352;12138086;12120215;11952158;11859273;11823465;11739402;11727256;11101516;10552925;10523832;10375383;10230395;10066034;9813060;9637529;11278323;2103501;10918572;10861448;12743035;19442892;19307027;19246968;19196314;19052740;18996102;18978678;18956930;18930083;18922903;18811692;18788876;18757723;18698632;18544636;18507100;18253818;18156207;18080773;18073139;18054376;17993868;17962208;17922051;17698969;17629209;17592292;17553928;17525275;17334078;17313741;17272867;16953426;16820093;16792897;16691197;16495466;16311697;16107719;15965977;15943034;15879109;15864136;15652357;15643916;15449618;15304500;15245434;15222785;15064961;15064403;15040026;18325497;8910478;8358733;8338831;8224876;8212535;8123596;8100397;8025160;7947554;7727772;7579819;6088071;3855503;3459638;2907605;2464748;2261437;2050136;1791840;1658709;1639032;1632509;1612477;1577411;11152476;22892881;19913121;20628086;20634891;20672350;17562274;18793775;19244201;19444471;19535569;19692652;19708171;19749156;19780938;19823173;19846666;19937600;20036421;20047592;20082468;20092031;20123220;20201926;20379614;20453000;20544801;20860222;20522558;22582975;20877637;21507922;21167153;21240064;21300824;20936340;22581387;22914212;23029012;21382168;20834067;15146197;16344560;21496113;22732125;23608755;19322201;22513431;23155381;22700631;23697265;15123239;23251661;22748914 7039 E7EPT6;F8VNR3;F8WA74;H0Y6S5;Q9UKM3 ABBA01075538;ABBA01075539;AC005234;AC017084;AF075584;AF075586;AF123239;AF149096;AF149097;AF149098;AF149100;AK290151;AK309066;AK309220;AK312899;AMYH01010425;AY325886;AY548763;BC005308;BI760767;BM453873;BT006833;CD369689;CH471053;CN274505;DA216480;DA229819;DA373586;DA462271;K03221;K03222;M22440;M31172;M96868;NG_029975;NM_001099691;NM_003236;X70340 AAA52530;AAA61157;AAA61158;AAA61159;AAA79958;AAD12238;AAD12239;AAF05089;AAF05090;AAF05091;AAF06728;AAF06729;AAF06730;AAF13491;AAH05308;AAP35479;AAP97822;AAS83396;AAY14705;AAY14793;BAF82840;CAA49806;EAW99810;EAW99811;EAW99812;EAW99813;EAW99814;NP_001093161;NP_003227;P01135 Hs.170009;Hs.628298 1298163;1667255;1741507;1741895;1742781;1742783;1743631;1753387;1753419;1784256;1794436;1795148;1796926;2175724;2182052;5092388;5120201;7183782 D2S2800;D2S292;GDB:120435;GDB:181258;GDB:186558;GDB:206703;GDB:206704;GDB:206705;GDB:363429;PMC312794P1;PMC99897P1;RH70888;SHGC-107207;SHGC-107216;SHGC-12714;SHGC-172026;TGFA_427 TFGA OTTHUMP00000160075;OTTHUMP00000203300;OTTHUMP00000203301;OTTHUMP00000203345;OTTHUMP00000203352;OTTHUMP00000225517;TGF-alpha;protransforming growth factor alpha;transforming growth factor-alpha APPROVED protein-coding ENSG00000163235 11765 07522 190170 REVIEWED 732522 TGFB1I1 transforming growth factor beta 1 induced transcript 1 This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 16 16 p11.2 31390985 31396781 + 31483476 31489281 + 6480464 12400158;10330411;18762808;10075738;15572661;9756887;17353931;9422762;7929412;18401422;17919607;17671518;17508020;17166536;16849583;16713569;16624805;16344560;16141357;15561701;15231748;14755691;14702039;12858356;12631731;12477932;12445807;12426580;12421567;12417722;12376363;12202987;12177201;12153727;12023963;11937715;11856738;11805099;11792840;11546764;11463817;11313252;11155740;10848625;10604475;10092676;9858471;9032249;1716619;11779876;22286178;11937718;18029348;19389829;19855388;20448481;20395114;20818421;23007394;21148292;21900206;21984848;19953087;21139048;21924870;21996749;22712231;20946164;15687259;21988832;23062781;23145173 7041 H3BN49;H3BQC4;H3BRP2;H3BS04;H3BSN4;I3L209;O43294 AA992124;AB007836;ABBA01042096;AC026471;AF116343;AK122975;AK313327;AMYH01007509;BC001507;BC001830;BC017288;BC032545;CH471192;DA097743;DQ309025;NM_001042454;NM_001164719;NM_015927 AAD22552;AAH01507;AAH01830;AAH17288;AAH32545;ABB96286;BAA24799;BAG36132;EAW52126;EAW52127;EAW52128;EAW52129;EAW52130;NP_001035919;NP_001158191;NP_057011;O43294 Hs.513530 1701090;2109943 RH104172;TGFB1I1_8674 ARA55;HIC-5;HIC5;TSC-5 OTTHUMP00000163301;OTTHUMP00000197012;androgen receptor coactivator 55 kDa protein;androgen receptor coactivator ARA55;androgen receptor-associated protein of 55 kDa;hydrogen peroxide-inducible clone 5 protein;transforming growth factor beta-1-induced transcript 1 protein APPROVED protein-coding ENSG00000140682 11767 03831 602353 REVIEWED 735686 TGFB3 transforming growth factor, beta 3 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Mar 2009] 14 14 q24 75494195 75517242 - 76424442 76448092 - 625677;1579859;1579864;1579865;1579866;1579879;1579937;1625704;1580863;2298922;2302086;2292158;6480464;6484113;6907045;7240710 12239085;14605008;12733956;12651933;11002343;14612425;12060054;15924806;12809600;18406405;18205704 9140123;18243111;11157754;1333888;18505915;18156205;18039789;11158066;18078367;17401695;18080134;3457014;19628198;19453261;19336475;19231643;19212830;19107876;19062040;18799618;18698632;18498721;18480962;18293167;18174230;18049952;17673689;17671384;17272867;17225872;16930538;16781676;16778279;16549496;16247549;16210002;16043141;15896309;15639475;15247411;15155569;15017149;14702039;14679171;14659070;12911534;12772773;12729750;12652527;12607775;12508121;12489185;12477932;12432546;12410804;12221089;12171249;12168782;12062452;12021923;11969342;11850637;11821050;11776328;11754469;11488419;11384957;11382746;11374028;11341298;11199370;11166150;10457363;10187774;9872992;9683588;9250163;8886879;8819159;8106553;8093006;7962292;7951245;7796607;7493022;3226728;3208746;3164476;1875922;7852346;22464821;22706080;20485444;20572854;20587546;20628624;20634891;20672350;21177256;20736064;19432813;12358597;1326540;17827158;18950289;19161338;19328471;19396528;19651533;19656717;19700613;19897194;20082468;20083094;20142847;20170386;20237496;20408761;20237132;20734064;20497023;22409215;22191848;20613589;21041550;20407224;20945347;21423151;21352603;19937272;21084396;19787410;21411746;21611961;21666950;21305699;21988832;22143699;22369552;22674391;22266274;20301310;19322201;22880017;22796605;23122986;22795539 7043 A5YM40;B3KVH9;P10600;Q8WV88 ABBA01030690;AF107885;AK122902;AK313564;AMYH01005861;AY140241;AY208161;AY386326;AY386327;AY386328;BC018503;BT007287;BX417403;CH471061;EF560714;J03241;M58524;NG_011715;NM_003239;X14149;X14885 AAA59193;AAA61161;AAC79727;AAH18503;AAM96819;AAO13495;AAP35951;AAQ98616;AAQ98617;AAQ98618;ABQ59024;BAG36338;BAG53791;CAA32362;CAA33024;EAW81249;NP_003230;P10600 Hs.592317 1340387;1647624;1679255;2118631;2142733;2162042;2181488 D14S42;GDB:386107;RH70130;RH79157;SHGC-11931;SHGC-30624;hstgf37 ARVD;FLJ16571;TGF-beta3 OTTHUMP00000246179;OTTHUMP00000246180;TGF-beta-3;transforming growth factor beta-3 APPROVED protein-coding 11769 01829 107970;190230 REVIEWED 6770737 TGFBR3L transforming growth factor, beta receptor III-like 19 p13.2 7981032 7983980 + 15885500 100507588 H3BV60 ABBA01010876;AC010336;AI536712;AI692730;AMYH01009418;BG752983;DR033794;NM_001195259 H3BV60;NP_001182188 Hs.646773 TGFR-3L TGF-beta receptor type III-like protein;TGF-beta receptor type-3-like protein;transforming growth factor, beta receptor III-like;transforming growth factor-beta receptor type 3-like protein;transforming growth factor-beta receptor type III-like protein protein-coding ENSG00000260001 44152 PROVISIONAL 730953 TGFB2 transforming growth factor, beta 2 This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types by transducing their signal through combinations of transmembrane type I and type II receptors (TGFBR1 and TGFBR2) and their downstream effectors, the SMAD proteins. Disruption of the TGFB/SMAD pathway has been implicated in a variety of human cancers. The encoded protein is secreted and has suppressive effects of interleukin-2 dependent T-cell growth. Translocation t(1;7)(q41;p21) between this gene and HDAC9 is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. The knockout mice lacking this gene show perinatal mortality and a wide range of developmental, including cardiac, defects. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010] 1 1 q41 216586491 216681596 + 218518676 218617961 + 731229;1579858;1579866;1579868;1579870;1579872;1579879;1579937;2302090;2298921;2302086;2292158;2302087;2302024;2302088;2302103;2302105;2302107;6480464;6484113;6907045 12876066;16227582;11002343;15630473;11934857;12545247;14612425;12060054;17117936;15109563;18406405;18205704;17574405;17366323;17204936;15145083;14997937;14575314 9611771;2119582;12958365;11157754;1333888;17192487;17960115;10092230;15896309;18223299;3322813;16891397;15944186;18431253;18039789;18358889;17217916;16943770;18078367;15955085;17999987;17401695;12411310;18080134;18049952;3457014;19453261;19258923;19249525;19212830;19062040;19031438;18694919;18505915;18498721;18384390;18348727;18292822;18174230;18043895;18040277;17703412;17679942;17651146;17611697;17532297;17453002;17431704;17201588;16998703;16885354;16778279;16608413;16467496;16260601;16210002;15816823;15695166;15489334;15389580;15290353;15247411;15113633;15009106;14702039;14679171;14510802;14507446;12911534;12802400;12772773;12706107;12607775;12489185;12477932;12420205;12064833;12062452;12060393;12021923;12015308;12011061;11991670;11895345;11796824;11795478;11716069;11528528;11488419;11241554;10861501;10457363;9493905;8106553;8093006;7513640;3476488;3226728;3162414;2850146;1764261;1641027;1631557;15857508;11278302;11483955;9675033;12867422;7852346;22464821;22706080;16463680;19444386;19913121;20485444;20585394;20587546;20628086;20628624;20634891;21446058;10433821;17827158;18563556;19161338;19472023;19572226;19710942;19834535;19959123;19965872;20059631;20134268;20142847;20201926;20237496;20503287;20734064;19438810;20875417;20630504;21106846;21360509;21087928;21087804;19937272;21161068;20543478;21088899;21212630;19651985;21642622;23099432;22955109;21585337;21411746;21693611;21738403;21207416;21917933;21139048;22180604;22504005;22582395;21305699;21034224;18239623;22487836;21946350;22786655;22772368;22772371;20881960;22823397;23249391;23297089;23257207;23387555;18457978;20301312;22736943 7042 P61812;Q59EG9 AB209842;ABBA01048104;ABBA01048105;AC096638;AK021874;AK295671;AK296504;AK299839;AK313106;AMYH01001736;AY438979;BC096235;BC096236;BC099635;BC099636;BX098793;CH471100;M19154;M87843;NG_027721;NM_001135599;NM_003238;Y00083 AAA50404;AAA50405;AAA61162;AAH96235;AAH99635;AAR05442;BAD93079;BAG35929;BAG58529;BAG59137;BAG61703;CAA68279;EAW93326;EAW93327;NP_001129071;NP_003229;P61812 Hs.133379 1653409;1744249;1781858;1796928;2120838;2124717;2131871;2150044;2153469;2154087;2164515;2184120;5022588;5024413 D19S1060;D1S3314;D5S1597E;G15948;G29668;GDB:438937;L17877;RH47450;RH69605;SHGC-76361;SHGC-76368;SHGC-84426;STS-Y00083;TGFB2_1091 LDS4;MGC116892;TGF-beta2 BSC-1 cell growth inhibitor;G-TSF;OTTHUMP00000037528;OTTHUMP00000037529;TGF-beta-2;cetermin;glioblastoma-derived T-cell suppressor factor;polyergin;transforming growth factor beta-2 APPROVED protein-coding ENSG00000092969 11768 01828 190220;614816 REVIEWED 1353233 TGFBRE transforming growth factor, beta-1 response element 8327510;11216674 8167 11775 734332 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008] 3 3 p22 30622998 30710638 + 30647994 30735634 + 1579875;1579879;1579925;1299231;1579872;1579927;1579928;1579929;1579930;1579931;1579934;1579936;1579937;1579939;1579940;1579941;1579933;1580863;1601591;1579923;1601598;1601599;1601623;1601116;1601593;1579926;1601601;1601627;1601600;1580959;2299005;2301065;2306282;2298922;2302517;2308865;2317498;2317499;2317501;2317502;2317500;5490966;5490965;6480464;6484113;6907045;7240710 15731757;14612425;16360132;12632524;12545247;11936776;15235604;15102771;14760070;14704634;16027248;12174910;12060054;10789724;8840968;7761852;12970754;17077588;16627068;14585397;12957270;9010265;17392319;16980036;15613744;11703592;14718046;11947899;16733295;18313409;14988818;17613544;12809600;18684975;18662538;17114585;11866987;9850059;9365135;10547197;18772397;19506583 21358634;19006214;18941508;18829577;18781618;18724388;18721526;18648910;18598696;18550062;18546940;18514338;18398939;18382895;18339844;18334936;18264665;18202754;18199825;18174230;18097622;18084123;18053089;18043895;17985359;17950544;17903302;17875924;17845732;17692120;17680270;17676583;17676485;17653092;17652900;17637743;17634290;17566598;17562261;17560608;17470566;17456004;17427197;17418587;17365852;11157754;18453574;7852346;1333888;18243111;1326540;10092230;12015308;17878231;9865696;11100470;19639654;19601999;19542084;19533785;19453261;19434696;19424605;19366699;19356148;19351817;19339270;19336370;19299629;19229971;19193655;19147499;19088080;19020727;12121646;12077447;12017275;12000714;11850637;11820800;11781097;11777969;11744689;11741970;11483955;11387212;11382746;11323414;11279102;11278302;11278251;11212236;11163210;11158177;10716993;10508522;10207840;9927040;9926943;9872992;9856985;9590282;9435577;9169454;9155023;9045666;8973329;8947046;8812462;8774881;8576253;8555189;8388126;8317497;8242742;8106553;8020936;7959019;7935686;7890683;7632217;7566156;1525823;1319842;1310899;18448069;18591668;17339425;17330129;17319955;17270239;17194537;17187359;17146441;17117417;17112860;17107667;17086361;17081983;16928994;16885183;16849474;16835936;16824508;16673206;16549496;16530041;16528739;16428382;16388503;16380996;16283890;16108056;15976377;15942678;15861007;15856015;15824172;15811425;15761153;15647279;15522964;15356634;15350299;15340161;15305380;15146427;15017149;15009106;14976186;14727154;14601051;14582709;12939140;12915548;12873459;12840808;12825850;12821554;12736050;12729750;12607775;12515396;12479849;12477932;12429842;12421567;12215842;12202987;12145287;10757800;11102446;15735734;18922473;22278155;22684895;22848678;22571197;22617150;22651914;19538865;20565851;20374083;20428796;21131601;21352603;20634891;21098638;21172820;19913121;20073064;20587546;20599261;20628007;20628086;15702480;16573164;16982625;18095113;19161338;19293232;19335617;19503063;19548309;19578796;19626999;19672284;19737884;19883511;19886734;19888426;19914962;19916025;19959123;19996017;20067791;20079749;20101206;20101701;20139972;20144264;20157331;20165854;20197483;20237496;20379614;20410122;20457266;20518838;8622651;20621662;19937272;20358619;11251969;20734064;20864512;22683712;22539603;22972928;20805453;20701609;20878063;18683732;17087113;21170488;21423151;21832049;21701930;22290546;23178117;21454688;21295082;19624886;21249319;21324918;21757750;20662850;20840324;21725601;21924348;22072622;22093616;19426152;21737283;21270064;21791611;22734312;22739178;23312833;22672900;21666718;21855067;21815248;21949851;22028617;21609163;22095581;22259224;22310065;21789464;22399565;21785915;22314103;20301312;20301299;23220853;21978186;21988832;23290524;23454766;15611116;17471240;22912877;22425785;19556242;19758997;22391627;22431140;22964853;9335507;20675371;23099432;23741361;22585622 7048 A3QNQ0;D2JYI1;P37173 ABBA01024961;AC096921;AI279872;AJ786388;AK300383;AK304404;AK314102;AL554950;AMYH01013054;AY675319;BC040499;BI598781;BM457423;CA437785;CB988859;CD521609;CH471055;D28131;DB493906;DQ377553;DQ377554;DQ377555;DQ377556;DQ377557;DQ377558;DQ377559;GU143402;GU143403;HI179058;HI179060;M85079;NG_007490;NM_001024847;NM_003242;U52246;U69152 AAA61164;AAB17553;AAB40916;AAI52841;AAT70724;ABG65632;ACZ58376;ACZ58377;BAA05673;BAG36796;BAG62117;BAG65238;CAH10151;CBX53837;CBX53838;EAW64410;EAW64411;EAW64412;NP_001020018;NP_003233;P37173 Hs.604277;Hs.82028 1331559;1337259;1338284;1341296;1847799;2110777;2146531;2179750;2179752;5092824 A006H18;D3S1283;D3S1293;D3S2336;D3S3727;G32353;G35010;RH47188;SHGC-32684;TGFBR2_1097 AAT3;FAA3;LDS1B;LDS2B;MFS2;RIIC;TAAD2;TGFR-2;TGFbeta-RII OTTHUMP00000161128;OTTHUMP00000208552;TGF-beta receptor type II;TGF-beta receptor type IIB;TGF-beta receptor type-2;TGF-beta type II receptor;tbetaR-II;transforming growth factor beta receptor type IIC;transforming growth factor, beta receptor II (70/80kDa) isoform 1;transforming growth factor, beta receptor II (70/80kDa) isoform 2;transforming growth factor, beta receptor ii;transforming growth factor-beta receptor type II APPROVED protein-coding ENSG00000163513 11773 01823 133239;190182;610168;610380;614331 REVIEWED 1603585 TGIF1P1 TGFB-induced factor homeobox 1 pseudogene 1 19 19 19 q13.32 43444525 43445890 - 51331327 51332804 - 46639545 46640910 - 126052 ABBA01040963;AC007785;AMYH01009858;NG_002440 1684168;1687592 RH39275;RH76383 pseudo 30730 INFERRED 733386 TGFBR1 transforming growth factor, beta receptor 1 The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 9 9 q22 100907233 100956295 + 101867412 101916474 + 1579873;1579874;1579875;1579876;1579878;1579879;737663;1579872;1579927;1579929;1579931;1579937;1580863;2302036;2299005;2302019;2306282;2298922;2302517;2302024;1601595;2302027;2302021;2302020;6480464;6484113;6907045;7240710 16428477;16314481;15731757;15382067;14722617;14612425;8272871;12545247;11936776;15102771;14704634;12060054;9363992;18313409;18202349;17613544;12809600;18684975;17366323;16009107;15723089;17505012;18198643 21358634;19214138;19147499;19116361;19036501;19012493;19004027;18978678;18925687;18781618;18778720;18758450;18721526;18711258;18703712;18676680;18550062;18546940;18541723;18474728;18469808;18456797;18421475;18333754;18316594;18252868;18243111;18223258;18202754;18174246;18174230;18097622;18095342;17936924;17890272;17848956;17848193;17845732;17705854;17703412;17657819;17652900;17607123;17575241;17507611;17365852;17319955;17238135;19229971;12065756;1333888;14633705;8752209;11157754;11278251;18625725;12015308;9389648;9311995;9865696;11100470;1326540;19509225;19505916;19494318;19453261;19401691;19390964;19336370;19299629;19299112;19258923;19255252;17203972;17072348;16998703;16980081;16950395;16947635;16928994;16857807;16835936;16806156;16791849;16754747;16596670;16528739;16407286;16289162;15961557;15955593;15863158;15860866;15833881;15761153;15702480;15661740;15599934;15546867;15505640;15498571;15496141;15465036;15459392;15385056;15356634;15317461;15305380;15247277;15178549;15177479;15155736;15146427;15009106;14718519;14702039;14597484;14580334;14517293;12947057;12873459;12607775;12477932;12446693;12429842;12358857;12202987;12145287;12082094;12017275;12000714;11867510;11850637;11820800;11746979;11583628;11438668;11420127;11387212;11356828;11279102;11278302;11163210;11102446;10085121;10025408;9892009;9856985;9774674;9748228;9661882;9545258;9525694;9472030;9435577;9417915;9346908;9346894;9335505;9215638;9136927;9045666;8774881;8576253;8555189;8530343;8530052;8521960;8242743;8235612;7890683;7774578;7518616;1319842;18591668;18922473;22278155;22848678;7791754;10757800;15148321;14657019;10716993;9872992;9738003;7852346;15761148;20428796;21304536;21224855;19913121;20458730;20571025;20587546;20599261;20628086;20634891;21172820;21423151;21295082;12151385;15938776;17099224;17314099;17649947;17878231;18974388;19170196;19293232;19375841;19506300;19538729;19542084;19586667;19592635;19595713;19601999;19608716;19625176;19626999;19639490;19639654;19672284;19688145;19690145;19692168;19711426;19736306;19882361;19883511;19908237;19916025;19930569;19936899;19998449;20086175;20101143;20101206;20368424;20379614;20403997;20429896;20437058;20453000;20503287;8622651;8980228;20445748;19863607;20427239;20924066;16027725;20705955;20052600;15946939;20538960;20734064;21068203;20500843;20663871;15221015;19732720;21030067;20301312;18683732;17087113;21127043;21225232;21170488;22905183;22290546;19995547;20662850;21629263;19426152;20354825;21821041;15611116;19139564;9759503;21441952;21677877;22015652;22100658;12857866;15350225;22088447;22136666;21539622;21751154;21478266;20959473;21791611;21962132;22610405;22739178;21139048;21906983;18511908;18781797;21924348;21987572;21815248;22496417;22617150;22651914;22006998;22096025;22624557;22078045;21785915;22314103;21858550;22292045;22344298;15359284;19322201;22706160;22773947;22414221;20301299;22532183;12543979;21963094;21978186;23000965;23166821;19556242;19758997;21465483;23027871;9335507;9436979;23349840;23455636;23624079;23064961;22473997;22803051 7046 B4DY26;F8VRH6;F8VVC4;F8VXZ5;F8W0K6;F8W1R9;H0YHS4;P36897;Q5T7S2 ABBA01042903;ABBA01042904;AF035670;AF054598;AJ420419;AJ619019;AJ619020;AK002171;AK129793;AK302059;AK302234;AL117597;AL162427;AMYH01021565;AY497473;BC038347;BC056247;BC071181;BX648917;CH471105;DQ383416;DQ383417;DQ383418;DQ383419;DQ383420;DQ383421;DQ383422;DQ383423;DQ383424;GU143401;HB448229;L11695;NG_007461;NM_001130916;NM_004612 AAA16073;AAC08998;AAD02042;AAH71181;AAR32097;ABD46753;ACZ58375;BAG63449;BAG63588;CAF02096;CAF02097;CAZ91468;EAW58905;EAW58906;NP_001124388;NP_004603;P36897 Hs.494622 1651234;1658762;1669432;1695700;1723081;1764225;1796930;2116862;2126707;2127226;2129220;2137365;2140382;2186832;5117100;7185272 D9S2089;GDB:437164;RH121979;RH35823;RH45113;RH45434;RH45880;RH69005;SHGC-12551;SHGC-147856;SHGC-34660;SHGC-57485;SHGC-78743;TGFBR1_1095;UniSTS:496000 AAT5;ACVRLK4;ALK-5;ALK5;LDS1A;LDS2A;MSSE;SKR4;TGFR-1 OTTHUMP00000021783;OTTHUMP00000242324;OTTHUMP00000242325;OTTHUMP00000242326;OTTHUMP00000242329;TGF-beta receptor type I;TGF-beta receptor type-1;TGF-beta type I receptor;activin A receptor type II-like kinase, 53kD;activin A receptor type II-like kinase, 53kDa;activin A receptor type II-like protein kinase of 53kD;activin receptor-like kinase 5;serine/threonine-protein kinase receptor R4;tbetaR-I;transforming growth factor beta receptor I;transforming growth factor, beta receptor 1;transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD);transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa);transforming growth factor-beta receptor type I APPROVED protein-coding ENSG00000106799 11772 01822 132800;190181;608967;609192 REVIEWED 7205237 TGIF2-C20orf24 TGIF2-C20orf24 readthrough This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] 20 q 35202957 35240960 + 20967262 100527943 Q9GZN2 ABBA01006579;ABBA01006580;ABBA01006581;ABBA01006582;AL050318;AMYH01011882;NM_001199535 NP_001186464 Hs.584985 1662759;1671904;2151711 D20S1010;HUM000AA21;WI-19258 TGIF2-C20orf24 protein protein-coding ENSG00000259399 44664 VALIDATED 1351420 TGFBI transforming growth factor, beta-induced, 68kDa This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008] 5 5 q31 135392597 135427406 + 135364584 135399507 + 1599387;1599389;1304421;1580863;6480464;7240710 9054935;16308546;12911551 15805105;15790870;15780949;15712349;15623763;15564760;15531312;15489334;15372022;15302666;15223229;15179309;15177960;15111592;15059726;15013897;14767905;14767644;14702039;14701952;14597039;12940514;12782158;12719415;12704192;12673209;12586172;12499048;12477932;12454095;12400061;12386809;12379307;12270930;12034705;11927442;11923233;11867580;11866539;11741113;11685063;11501939;11413411;11297504;11024425;10967553;10913330;10865320;10837380;10681572;10660331;10425035;10328397;9799082;9780098;9727509;9497262;9061001;8136834;8125298;8077289;7738366;18425347;18359287;18354229;18332318;18298822;18290950;18259096;18249103;18245446;18097563;18078741;18068629;17982422;17982418;17980739;17909299;17893671;17846354;17765440;17653042;17378698;17327467;17317389;17013691;16947382;16900028;16797290;16767671;16672769;16670477;16652336;16636649;16541014;16453189;16440005;16434404;16368891;16344560;16329146;16329070;16087849;15885785;15838722;1388724;8024701;9463327;19461933;19433713;19303004;19255489;19145249;19019446;19001012;18752451;18728790;18636123;18615206;18568131;18560760;18470323;18465714;18427622;22850414;22234156;22194646;19948560;20458218;19913121;20628086;19505574;19822856;19956413;20161820;20360992;20421128;20863486;20724852;20664689;20680100;20806046;22575305;22629380;22876129;20931522;21191728;21554857;21135107;20697279;20419098;21371477;22626996;21395558;22746317;21835759;21561707;21617751;23019342;22155582;21921985;21899585;21720722;22248469;22710795;22056868;22326753;22374302;22159598;22575726;22995918;22815629 7045 D6RBX4;D6RHG5;G8JLA8;H0Y8L3;H0Y8M8;H0Y9D7;H0YAB8;H0YAH8;O43219 AB209598;ABBA01068719;AC004503;AC005219;AF035626;AF035627;AF035628;AF035629;AK093916;AK094055;AK094581;AK222833;AK298603;AK303643;AMYH01015630;AY149344;BC000097;BC004972;BC026352;BT009820;CH471062;DA051240;M77349;NG_012646;NM_000358 AAA61163;AAB88695;AAB88696;AAB88697;AAB88698;AAC08449;AAC24944;AAH00097;AAH04972;AAN10294;AAP88822;ABM83104;ABW03491;BAD92835;BAD96553;BAG52785;BAG52805;BAG52893;BAG60787;BAH14005;EAW62198;EAW62199;EAW62200;NP_000349;Q15582 Hs.369397 1649196;1657969;1681352;1684188;1712276;1722487;1780590 G54047;G60167;RH36452;RH67865;RH76242;RH79676;bac5130T BIGH3;CDB1;CDG2;CDGG1;CSD;CSD1;CSD2;CSD3;EBMD;LCD1 OTTHUMP00000223339;RGD-CAP;RGD-containing collagen-associated protein;beta ig-h3;kerato-epithelin;transforming growth factor-beta-induced protein ig-h3 APPROVED protein-coding ENSG00000120708 11771 03409 121820;121900;122200;601692;602082;607541;608470;608471 REVIEWED 69095 TGFB1 transforming growth factor, beta 1 This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types. Many cells have TGFB receptors, and the protein positively and negatively regulates many other growth factors. The secreted protein is cleaved into a latency-associated peptide (LAP) and a mature TGFB1 peptide, and is found in either a latent form composed of a TGFB1 homodimer, a LAP homodimer, and a latent TGFB1-binding protein, or in an active form composed of a TGFB1 homodimer. The mature peptide may also form heterodimers with other TGFB family members. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease.[provided by RefSeq, Oct 2009] 19 19 q13.1 46528491 46551656 - 41836812 41859831 - 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7040 M0R2S0;P01137 ABBA01040804;ABBA01040805;AC011462;AI304490;AK291907;AK307742;AMYH01009819;AY059373;AY330201;AY330202;AY576687;AY576688;AY820829;AY871232;AY871233;AY871234;AY871235;AY871236;AY871237;AY871238;AY871239;AY871240;AY871241;AY871242;AY871243;AY871244;AY871245;BC000125;BC001180;BC022242;BP267938;BT007245;CH471126;CQ759646;CS674262;CS805735;DA935180;HC919732;HC919943;JA104601;M38449;NG_013364;NM_000660;X02812;X05839 AAA36735;AAH00125;AAH01180;AAH22242;AAL27646;AAP35909;AAQ18641;AAQ18642;AAT77143;AAT77144;AAV71148;AAX59016;AAX59017;AAX59018;AAX59019;AAX59020;AAX59021;AAX59022;AAX59023;AAX59024;AAX59025;AAX59026;AAX59027;AAX59028;AAX59029;ACE86795;ACE87482;BAF84596;CAA26580;CAA29283;CAF32686;CAP12291;CAP40172;CBN73463;CBN73468;CCA63970;EAW57032;EAW57033;NP_000651;P01137 Hs.645227 1851935;5016023;5016586;5113521;5117847 GDB:624780;GDB:624783;RH76684;STS-X02812;TGFB1 CED;DPD1;LAP;TGFB;TGFbeta TGF-beta 1 protein;TGF-beta-1;latency-associated peptide;transforming growth factor beta-1 APPROVED protein-coding 11766 01821 131300;190180;219700 REVIEWED 1605001 TGIF2P1 TGFB-induced factor homeobox 2 pseudogene 1 1 1 1 q44 217848323 217860509 - 242624900 242637091 - 244558277 244570468 - 126826 ABBA01047198;ABBA01047199;AL645465;AMYH01001895;NG_009692 1849333;5017869 ADSS;SHGC-76611 pseudo 33317 INFERRED 1321869 TGFBRAP1 transforming growth factor, beta receptor associated protein 1 2 2 2 q12.1 100084016 100146596 - 105249961 105312561 - 105883529 105946148 - 1580863;6480464;6484113 11278302;9545258;16886895;16344560;14702039;12477932;10051563;20562859;19754311;20379614;21998450;21139048;21906983;23251661 9392 Q8WUH2 ABBA01073861;AC012360;AF022795;AK021697;AK291382;AMYH01010833;BC020548;CH471127;CT002669;DB150781;FB750000;NM_001142621;NM_004257 AAC16903;AAH20548;AAY15010;ABM82485;ABW03418;BAF84071;BAG51041;CAT02179;EAX01764;EAX01765;NP_001136093;NP_004248;Q8WUH2 Hs.446350 2108567;2140923 L29730;TGFBRAP1_7945 TRAP-1;TRAP1 OTTHUMP00000161378;TGF beta receptor associated protein -1;TGF-beta receptor-associated protein 1;transforming growth factor-beta receptor-associated protein 1 protein-coding ENSG00000135966 16836 06948 606237 VALIDATED 736539 TGFBR3 transforming growth factor, beta receptor III This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010] 1 1 p33-p32 91920575 92124243 - 92145900 92371559 - 1579872;1579931;1579943;1579933;1579954;1580863;2298922;6480464;6484113 12545247;14704634;15745937;12970754;12651901;12809600 11323414;11157754;10746731;1333192;12958365;18184661;16886151;17999987;14557487;18029348;19453261;19416857;19299629;19249006;19164448;19131638;18978678;18931647;18845534;18398939;18397882;18315732;18299279;18174230;18097622;17602227;17408468;17272393;17192875;17084394;16710414;16621788;16613887;16344560;15489334;15009106;14585090;12873459;12782414;12568406;12477932;12385827;12358857;11382746;10944857;10207840;10092230;8530052;8125298;8106553;7935686;1657407;1657406;1319842;7852346;20677641;19913121;20587546;20628086;20634891;20406198;11546783;14976204;16982625;19639191;19842711;20153821;20178540;20208565;20379614;20386084;20424473;20734064;20548946;21297076;22290546;21261473;21307088;21411633;21756058;22927969;21847367;21717526;21829018;19322201;22036907;22300218;22479366;22140272;22440163;22562249;23092981;23209189;23226100 7049 E9PAW7;E9PKY4;E9PMG7;Q03167 ABBA01045559;ABBA01045560;ABBA01045561;ABBA01045562;ABBA01045563;ABBA01045564;AC099334;AC114486;AI090023;AJ251961;AK225799;AK291345;AL162263;AL390780;AL445992;AMYH01000790;AMYH01000791;AMYH01000792;AY796304;BC099914;BC126116;BC136295;BC143869;BX090279;CA406273;CH471097;DA724452;DA854401;DA862176;DB224305;DR002506;L07594;NG_027757;NM_001195683;NM_001195684;NM_003243;NR_036634 AAA67061;AAI26117;AAI36296;AAV50003;BAF84034;CAB64374;EAW73112;EAW73113;NP_001182612;NP_001182613;NP_003234;Q03167 Hs.482390;Hs.735919 1336125;1648883;1661581;1664966;1721655;1764493;2122447;2128307;2149838;2150684;2170078;2218090 AL009304;D1S1588;D1S3441;D1S3573;G59838;RH68993;SHGC-148101;SHGC-30223;SHGC-58228;SHGC-75157;SHGC-75166;TGFBR3_3871 BGCAN;betaglycan OTTHUMP00000011787;OTTHUMP00000011807;OTTHUMP00000228692;TGF-beta receptor type 3;TGF-beta receptor type III;TGFR-3;betaglycan proteoglycan;transforming growth factor beta receptor type 3;transforming growth factor, beta receptor 3 APPROVED protein-coding ENSG00000069702 11774 02846 600742 REVIEWED 1321463 TGIF1 TGFB-induced factor homeobox 1 The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013] 18 18 p11.3 3402072 3448409 + 3412072 3458409 + 1599407;1599409;1580863;1641826;6480464 10835638;15153551;14718385 17353931;10764806;8537382;19060265;18455519;18441095;18172074;17825514;17440433;17378698;17158784;17048038;16962354;16916642;16323008;16189514;16169070;16134180;15489334;15223781;15221788;12601022;12593671;12522553;12477932;11810641;11748221;11682623;11571228;11416139;11371641;11226163;10995736;10199400;7485158;3192211;11427533;20634891;19699159;20064471;11306568;20622901;20531442;19524896;22293114;22728270;21237437;21490324;21832049;22995913;23019344;21577013;18511908;20361981;21900206;21940735;22310223;20301702;19322201;23476075;22771156;22496059;15146197;16341674;16712791 7050 F8VUY0;F8VVS9;F8VW34;F8VWK5;F8VX54;F8VXG3;F8VYL4;F8VZH2;F8W1J9;J3KS32;Q15583 ABBA01049851;AF179900;AI813434;AK026766;AK291112;AK307230;AK309471;AMYH01008780;AMYH01008781;AP001025;AU310737;BC000814;BC031268;BE296707;BE906361;BF244060;BF446044;BM849453;BQ437864;BU657748;BX952985;CB161219;CB996365;CH471113;CN290028;CR450333;D82120;DR007147;HI179138;HI179140;HI179142;HI179144;HI179146;HI179148;HI179150;HI179152;HY041619;NG_007447;NM_001278682;NM_001278684;NM_001278686;NM_003244;NM_170695;NM_173207;NM_173208;NM_173209;NM_173210;NM_173211;NM_174886;X89750 AAF81643;AAH00814;AAH31268;ABM82489;ABM85677;BAF83801;CAA61897;CAG29329;CBX53877;CBX53878;CBX53879;CBX53880;CBX53881;CBX53882;CBX53883;CBX53884;EAX01670;EAX01671;EAX01672;NP_001265611;NP_001265613;NP_001265615;NP_003235;NP_733796;NP_775299;NP_775300;NP_775301;NP_775302;NP_775303;NP_777480;Q15583 Hs.373550 1335914;1684168;1687592;1758927;2182327;7186257 D18S63;RH39275;RH76383;SHGC-151029;STS-X89750 HPE4;MGC39747;MGC5066;TGIF 5'-TG-3' interacting factor;5'-TG-3'-interacting factor 1;OTTHUMP00000162245;OTTHUMP00000162246;OTTHUMP00000162247;OTTHUMP00000241892;OTTHUMP00000241893;OTTHUMP00000241896;OTTHUMP00000241897;OTTHUMP00000241898;OTTHUMP00000241900;OTTHUMP00000241901;OTTHUMP00000241903;OTTHUMP00000241904;TALE homeobox TG-interacting factor;homeobox protein TGIF;homeobox protein TGIF1;tgfb-induced factor (tale family homeobox);transforming growth factor-beta-induced factor APPROVED protein-coding ENSG00000177426 11776 04023 602630 REVIEWED 1342872 TGIF2LY TGFB-induced factor homeobox 2-like, Y-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008] Y Y p11.2 3507126 3508082 + 3447126 3448082 + 1580863 18663611;18384077;12815422;12477932;12226713;20211142;20618440 90655 Q8IUE0 ABBA01069791;AC019058;AF332223;AJ427750;AK292609;BC101143;BC101146;BC128604;NM_139214 AAI28605;AAK13475;BAF85298;CAD20751;NP_631960;Q8IUE0 Hs.112148 1791179;5493449 UniSTS:486389;sY1254 TGIFLY OTTHUMP00000034365;TGF-beta-induced transcription factor 2-like protein;TGFB-induced factor 2-like protein, Y-linked;TGIF-like on the Y;homeobox protein TGIF2LY APPROVED protein-coding ENSG00000176679 18569 18512 400025 REVIEWED 1351295 TGIF2LX TGFB-induced factor homeobox 2-like, X-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008] X X X q21.31 89654407 89655349 + 89063596 89064538 + 89176940 89177882 + 1580863;6480464 18663611;18384077;15772651;15489334;12815422;12477932;12226713;22808956 90316 Q3ZCM9;Q8IUE1 AF497480;AJ427749;AL590041;AMYH01022680;BC029920;BC101144;BC101145;BC117398;BC117400;NM_138960 AAI01145;AAI01146;AAI17399;AAI17401;AAM18073;ADR82869;CAD20750;NP_620410;Q8IUE1 Hs.592220 1791179;5493449 UniSTS:486389;sY1254 MGC34726;TGIFLX OTTHUMP00000023636;TGF(beta)-induced transcription factor 2-like;TGF-beta-induced transcription factor 2-like protein;TGFB-induced factor 2-like protein, X-linked;TGIF-like on the X;homeobox protein TGIF2LX APPROVED protein-coding ENSG00000153779 18570 02328 300411 REVIEWED 1349690 TGM6 transglutaminase 6 The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 20 20 20 p13 2426476 2478323 + 2309554 2361399 + 2361554 2413399 + 1580863 11390390;7688299;7906657;21453693;18825674;21106500;20300788;21939789;21984379;22527681;23576621;23206699;23535033 343641 O95932 ABBA01053790;AF540969;AF540970;AL031678;AL049650;AMYH01011667;CH471133;NG_031917;NM_001254734;NM_198994 AAI66680;AAQ10751;AAQ10752;EAX10600;NP_001241663;NP_945345;O95932 Hs.452039 1691606;2135175 AL032537;D20S826 SCA35;TG6;TGM3L;TGY;dJ734P14.3 OTTHUMP00000030010;OTTHUMP00000042917;TGase Y;TGase-3-like;TGase-6;protein-glutamine gamma-glutamyltransferase 6;spinocerebellar ataxia 35;transglutaminase 3-like;transglutaminase y;transglutaminase-3-like;transglutaminase-6 APPROVED protein-coding ENSG00000166948 16255 15495 613900;613908 REVIEWED 1316891 TGM7 transglutaminase 7 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] 15 15 15 q15.2 20339319 20365298 - 41355771 41381745 - 43568479 43594453 - 1580863 11390390;7688299;7906657 116179 Q96PF1 ABBA01038350;ABBA01038351;AC009852;AF363393;AMYH01006588;AMYH01006589;BX112796;CH471125;NM_052955 AAI48503;AAI53106;AAK97573;EAW92597;NP_443187;Q96PF1 Hs.164661 1686128;1732221 D15S508;RH80195 TGMZ TG(Z);TGZ;TGase Z;TGase-7;protein-glutamine gamma-glutamyltransferase Z;transglutaminase Z;transglutaminase-7 APPROVED protein-coding ENSG00000159495 30790 09485 606776 VALIDATED 1353046 TGOLN1 trans-golgi network protein 1 369008 AK008520 22987 1344249 TGIF2 TGFB-induced factor homeobox 2 The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010] 20 20 q11.23 34635424 34655767 + 35201876 35222355 + 1580863;6480464 11006116;16344560;15489334;14702039;12477932;12417041;11780052;11427533;9110174;8619474;15342556;15880741;16436215;16534781;16962354;18094028;18768788;18959792;19086843;20040491;20211142;22318606;19322201 60436 H0YKN5;Q9GZN2 AB042646;ABBA01006576;ABBA01006577;ABBA01006578;ABBA01006579;ABBA01006580;ABBA01006581;ABBA01006582;AF055012;AK074802;AK074829;AK313919;AL050318;AL705108;AMYH01011881;AMYH01011882;BC006549;BC012816;BG723865;BI869422;BP353213;BQ881960;CH471077;CQ783690;DA438831;NM_001199513;NM_001199514;NM_001199515;NM_021809 AAH06549;AAH12816;ABM84326;ABM87719;BAB16424;BAC11216;BAG36640;CAF86813;EAW76127;EAW76128;NP_001186442;NP_001186443;NP_001186444;NP_068581;Q9GZN2 Hs.632264 1651519;1662384;1663370;1674717;1677402;1798270;1847984;2176974 A008R12;D20S561E;G07338;G18067;RH77695;RH91464;TGIF2_2062;Z94335 5'-TG-3' interacting factor 2;5'-TG-3'-interacting factor 2;OTTHUMP00000030848;OTTHUMP00000030849;TGF(beta)-induced transcription factor 2;TGF-beta-induced transcription factor 2;homeobox protein TGIF2;transcription growth factor-beta-induced factor 2 APPROVED protein-coding ENSG00000118707 15764 06293 607294 REVIEWED 731987 TGM1 transglutaminase 1 The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008] 14 14 q11.2 23788160 23802256 - 24718320 24732416 - 1599417;1580863;6480464;7240710 7824952 22311480;19464759;15846304;15805105;15715085;15665393;15489334;15313180;15304086;12928434;12721789;12654631;12542526;12477932;12397374;12100179;12054678;11511296;11390390;11298529;11251583;10914678;10405818;10196183;9887377;9863908;9523691;9516464;9446578;9384573;9359043;9346937;9326318;7773290;1704039;7592852;9722562;10066784;10510474;7961731;14645372;8824274;1979171;19386600;19343046;19241467;19197536;18948357;18676680;18397883;17762854;17672918;17024410;16604191;16530159;16344560;16133457;1673840;1350092;1348508;1346394;7688299;7906657;1351505;1670769;1381356;19486042;18673368;19170196;19516268;19556108;19625176;19646949;19692168;19863506;19890349;20080707;20167857;20663883;22622417;20360068;22009441;21248772;22511925;22435431;21139048;23189155;22220473;20301593;22801880;19651786;21789544;23096117;22080209 7051 B4DWR7;H0YKI6;H0YLJ6;H0YLT9;H0YMQ8;H0YN27;H0YNM4;P22735 ABBA01061339;ABBA01061340;AK291350;AK299436;AK301652;AK315819;AK315828;AK315843;AL096870;AMYH01005611;BC034699;CH471078;D10353;D90287;DA437895;DQ640500;JF419518;M55183;M62925;M83230;M98447;NG_007150;NM_000359;X57974 AAA59474;AAA61156;AAA61166;AAA96667;AAH34699;ABF70204;ABM82411;ABW03400;AEM23727;BAA14329;BAA34203;BAF84039;BAF98710;BAF98719;BAF98734;BAG61413;BAG63129;CAA41040;EAW66047;NP_000350;P22735 Hs.508950 1647748;1742067;2126208;2190625 D14S1225;GDB:190625;TGM1;humtgasi ARCI1;ICR2;KTG;LI;LI1;TGASE;TGK K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase;OTTHUMP00000164684;TG(K);TGase K;TGase-1;epidermal TGase;protein-glutamine gamma-glutamyltransferase K;transglutaminase 1;transglutaminase 1 isoform;transglutaminase K;transglutaminase, keratinocyte;transglutaminase-1 APPROVED protein-coding ENSG00000092295 11777 01824 190195;242100;242300 REVIEWED 732487 TGM2 transglutaminase 2 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 q12 36190277 36227114 - 36756863 36793700 - 1579955;1579992;1579993;1579994;1579987;634393;1579996;1579997;1579998;1580015;1580017;1302539;1580863;1300048;6480464;6484113;6907045 16341586;15585642;15001552;12698366;15471861;12054611;12387450;12205028;11013236;16477388;11351042;12702643 19324884;19278990;19183553;19182256;19013523;18923241;18849643;18809380;18804908;18793760;18667446;18632639;18587533;18584285;18561261;17189522;17171363;17043648;16951195;16914140;16826431;16757564;16720350;16522628;16449978;16439457;16407273;16382148;16368554;16368540;16338459;16313886;16301118;16300411;16285941;16153302;16146777;16146727;16146723;15886239;15752564;15746535;15715085;15691824;15592455;15556610;15489334;15460447;15362860;15272014;15231748;15220331;15201665;15199098;15069073;14985437;14752105;14747475;14631123;12960346;12853457;12743114;12528814;12527383;12477932;12438565;12410804;12368090;12093810;12061780;11867764;11867708;11829448;11780052;11762979;11742196;11686302;11442349;11390390;11350930;11258932;10963790;10958788;10922377;10684262;10611475;10561600;10556977;10521459;10518533;10100610;9973324;9512491;9442029;9315663;9252372;9060478;8611626;7912692;7730416;1670773;1670766;1358880;1353685;7688299;7906657;18544639;18499669;18490773;18505736;18474442;18381937;18375543;18353867;18312620;18235007;18174247;18092889;18052077;17939176;17924658;17890909;17762854;17711877;17671187;17625111;17609251;17476115;17442486;17440814;17403029;17374730;17314516;17228174;21129482;22418443;22322858;22326684;20371597;20659425;20450916;18673368;19342211;19403524;19542224;19562471;19619546;19625650;19628791;19632032;19657147;19680746;19756726;19838207;19840940;19878304;19912255;19931242;19937343;20007697;20033322;20052409;20080707;20156196;19655169;20596752;20450932;20731658;20739659;20926141;20488756;20489165;20547769;21036738;20676023;20874003;20929862;22652528;20615646;20967228;20717931;21226238;20437185;21036168;20731657;21124911;22225906;22863883;20665636;21304968;21359202;21525012;23122413;21832049;22923476;23085038;23290789;21441900;21777419;21757696;22442151;22493284;21139048;21678409;22118674;23185316;23454274;21963846;21252943;22228808;22385244;21900206;21908620;21943122;22220471;22220472;22220474;22220475;22220476;22220477;22220479;22198767;21971542;21840417;21818567;21830119;22298777;22320917;22366952;22451718;22458929;23085087;16212417;19738201;21625219;21988832;22921425;23276939;21967801;22364871;22698685;22750506;21935707;21984378;22038180;22080209;22083892;22086212;22089883;22130737;22139411;22160262;22231926;22460364;22782215;23538006;22382775;23224146 7052 A2A299;A2A2A0;B4DIT7;F5H6P0;P21980 AA493184;ABBA01006639;AF311286;AK058031;AK126508;AK291714;AK295775;AK300292;AK314618;AL031651;AL512703;AMYH01011904;AY675221;BC003551;BC073946;BQ430537;BQ938957;BX471706;CA444769;CH471077;DQ523828;M55153;M98478;M98479;NM_004613;NM_198951;S81734 AAA36739;AAA63261;AAB36379;AAH03551;AAH73946;AAK15272;AAT79353;ABF47109;ADZ16041;BAF84403;BAG37184;BAG58599;BAG62049;CAC21649;EAW76040;EAW76041;EAW76042;EAW76043;EAW76044;NP_004604;NP_945189;P21980 Hs.517033 1646678;1658239;1798272;2181393;2181999;2185688 D20S1009;D20S543E;RH45330;SHGC-12855;TGM2_2385;WI-20127 G-ALPHA-h;GNAH;TG2;TGC C polypeptide;C polypeptide, protein-glutamine-gamma-glutamyltransferase;OTTHUMP00000030960;TG(C);TGase C;TGase H;TGase-2;TGase-H;protein-glutamine gamma-glutamyltransferase 2;protein-glutamine-gamma-glutamyltransferase;tissue transglutaminase;tissue-type transglutaminase;transglutaminase C;transglutaminase H;transglutaminase-2 APPROVED protein-coding ENSG00000198959 11778 01825 190196 REVIEWED 1343492 TGM3 transglutaminase 3 Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008] 20 20 q11.2 2224675 2269725 + 2276613 2321725 + 1580863;6480464 14645372;8099584;15193648;24643;12850301;5038456;19142970;19005484;18719606;18029348;17380116;17205060;16804985;16786148;16257432;15715085;15489334;15335352;15304086;15084592;14647409;14646218;12874078;12679341;12477932;11901200;11780052;10777582;10521460;9452468;8889549;8626812;7913719;7851911;7688299;7906657;19522851;19590514;19615732;20379614;20716179;20562859;20300788;21335491;22990118;21800051;22506423;22586326;21139048;23189155 7053 Q08188 ABBA01053789;AI216028;AK290324;AK291351;AK298637;AK299447;AK308249;AK315236;AL031678;AL602787;AL691671;AMYH01011667;AW265475;BC109075;BC109076;BG675531;BX284087;CH471133;DC373633;EF102483;L10386;N23065;NM_003245 AAA61155;AAI09076;AAI09077;ABK41960;BAF83013;BAF84040;BAG37663;BAG60812;BAG61420;EAX10601;EAX10602;NP_003236;Q08188 Hs.2022 1713183;1796932;1848563;1854211;1854597;2120857;2136815 D20S1049;D20S1099;D20S745;G18074;RH120378;TGM3_1647;Z94548 MGC126249;MGC126250;TGE E polypeptide, protein-glutamine-gamma-glutamyltransferase;OTTHUMP00000030008;TG(E);TGase E;TGase-3;protein-glutamine gamma-glutamyltransferase E;transglutaminase E;transglutaminase-3 APPROVED protein-coding ENSG00000125780 11779 02584 600238 REVIEWED 1602161 THA1P threonine aldolase 1, pseudogene 17 17 17 q25.3 72840698 72848293 - 73756169 73762092 - 76244671 76252266 - 6480464 16344560;15757516;15146197;20210993 390816 ABBA01002937;AC087645;AMYH01008665;NG_009023 GLY1 APPROVED pseudo 18004 INFERRED 1343082 TGM4 transglutaminase 4 (prostate) 3 3 p22-p21.33 44891102 44931092 + 44916098 44956088 + 1580863;6480464 7916568;18983858;18561295;17552366;16344560;15489334;12477932;9721214;8645175;7665178;7688299;7906657;15174051;20596668;20177144;21524313;21743959;22362749 7047 F8WCU8;P49221 ABBA01024735;AC098649;AK125536;AK130286;AK300523;AK312936;AMYH01013125;AMYH01013126;BC007003;BF678064;CH471055;DA870110;EU685240;EU685241;EU685242;L34840;NM_003241;U31905;U79008;Y09559 AAB38324;AAB95430;AAC50516;AAH07003;ABM87504;ABW03895;ACF75748;ACF75749;ACF75750;BAC85321;BAG35778;BAG62235;CAA70753;EAW64727;EAW64728;NP_003232;P49221 Hs.438265 1649897;5037552 D8S2279;WI-7947 FLJ26776;TGP;hTGP OTTHUMP00000164127;TG(P);TGase P;TGase-4;fibrinoligase;prostate transglutaminase;prostate-specific transglutaminase;protein-glutamine gamma-glutamyltransferase 4;transglutaminase P;transglutaminase-4 protein-coding ENSG00000163810 11780 08997 600585 VALIDATED 1351226 TGOLN2 trans-golgi network protein 2 This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] 2 2 p11.2 85398657 85408885 - 85545141 85555419 - 1580863;6480464 8907712;9422759;15916959;14743217;12477932;12107412;11208159;10514494;9794796;7569928;8125298;15254094;17474147;18029348;20086247;20138391;20468057;10814565;15342556;16368877;21139048;21994457;20386718;20926557;21563830;21607084;21900423 10618 F8W8W7;F8WBK2;J3KQ45;Q53GV2 AA723637;AA814306;ABBA01075746;AC093162;AF027515;AF027516;AF029316;AK025557;AK126465;AK222829;AK223063;AK312479;AL133437;AL710137;AMYH01010494;AW630597;BC008461;BC028219;BC035237;BC046196;BC062782;BF515968;BP212295;BQ018277;BQ223385;BQ226188;BU192601;BX640733;BX640818;BX640868;BY798185;CB216875;CD370267;CD518854;CD671318;CH471053;NG_030379;NM_001206840;NM_001206841;NM_001206844;NM_006464;U62390;X94333 AAB96906;AAB96907;AAB96908;AAC39539;AAC39541;AAC39542;AAH08461;AAH28219;AAY24095;ABW03576;ABW03892;BAC86559;BAD96549;BAD96783;BAG35383;CAA64002;CAE45926;EAW99535;EAW99536;EAW99537;EAW99538;EAW99539;EAW99540;NP_001193769;NP_001193770;NP_001193773;NP_006455;O43493 Hs.593382 1644883;1685942;1849581;1849583;2115839;2129644;5037552;5109281 A001Y46;D1S1425;D8S2279;G19802;RH12119;RH93357;SHGC-32579;STS-X94333 MGC14722;TGN38;TGN46;TGN48;TGN51;TTGN2 OTTHUMP00000202896;OTTHUMP00000202897;OTTHUMP00000202899;OTTHUMP00000202906;OTTHUMP00000202907;TGN38 homolog;trans-Golgi network integral membrane protein 2;trans-Golgi network protein (46, 48, 51kD isoforms);trans-Golgi network protein TGN51 APPROVED protein-coding ENSG00000152291 15450 04343 603062 REVIEWED 1318367 TGM5 transglutaminase 5 This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009] 15 15 q15.2 41312667 41346347 - 43524793 43559055 - 6480464;7240710 9452468;18509357;16380904;16117804;15489334;15290349;15290346;12477932;12434312;12230511;11390390;7688299;7906657;22622422;19440220;19654303;20164844;8889548;22036214;23189155;21139048 9333 B4DPS8;O43548 ABBA01038351;AC009852;AC068724;AF035960;AF035961;AF206502;AF206503;AF206504;AF206505;AF206506;AF206507;AF206508;AF206509;AF206510;AK298479;AMYH01006588;AW467571;BC039086;BC119009;BC122859;CA314704;CH471125;NG_016124;NM_004245;NM_201631 AAC02978;AAC02979;AAF23981;AAI19010;AAI22860;BAG60690;EAW92593;EAW92594;EAW92595;EAW92596;NP_004236;NP_963925;O43548 Hs.129719 1678863;1733508;2111242 D15S492;D15S546;RH17542 MGC141907;TGASE5;TGASEX;TGM6;TGMX;TGX TG(X);TGase X;TGase-5;protein-glutamine gamma-glutamyltransferase 5;transglutaminase V;transglutaminase X;transglutaminase-5 APPROVED protein-coding ENSG00000104055 11781 11949 603805;609796 REVIEWED 733897 TH tyrosine hydroxylase The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.5 2141735 2149611 - 2185159 2193035 - 1580026;1580032;1580034;1580036;1580037;1580038;1580048;1580050;737737;1601629;1601631;1601630;1580863;1601632;1601634;1300048;4139904;5128607;5129120;5130724;5128674;5128609;5128616;5129480;5128800;5128830;5129121;5129683;5129532;5128603;5129691;5128821;5128822;5131159;5128768;2289955;2311578;5128620;5508374;6480464;6907045;7240710 15684695;15722952;11246459;15077008;12891655;9920892;16139102;15820506;7715703;17151307;16636198;16650497;16251897;7814018;19342614;21376343;2573072;16396986;21287352;21366664;21323909;19968782;19605093;9853519;18457899;18987458;2875142;18356740;21061149;21047500;18385100;21178126;15857400;18823370;21311677;15795180 20675101;22583432;1973163;1347949;33381;2872999;11943812;16338639;10907721;12457228;12113410;12631248;18343820;17520326;17135716;19491717;19491146;19367319;19360691;19352218;19285077;19224593;19221445;19189602;19156168;19125082;19120120;18979915;18814238;18574609;18554280;18534229;18270970;18208403;18181650;18085551;18058633;18023073;17988588;17985144;17972051;17948905;17926059;17869399;17784840;17698732;17698383;17466074;17391063;17329957;17195153;17194738;17018139;16887311;16764822;16741719;16731528;16644734;16643317;16516890;16447258;16445854;16360899;16344718;16252282;15953356;15898085;15744773;15736042;15735319;15476168;15468323;15303408;15135070;14749349;14739699;14651989;14651963;12782971;12759555;12610512;12576454;12571119;12527603;12493595;12477932;12428766;12358785;11834745;11738155;11359875;11326301;10660577;10391209;9754624;9703425;9613851;8889548;8817341;8528210;7789962;6150037;6137760;2905129;2902075;2896667;2892893;2892528;2888085;2887169;2882428;20056467;20124442;20132525;21368136;19913121;20564319;20602615;20628086;20646572;20706199;20809526;20818075;21265843;12421349;14570886;14675149;18583979;19448984;19604093;19674121;19693267;19703902;19761814;19767753;19772578;19801645;19815691;19833152;19874574;19958792;20046397;20067853;20146650;20163778;20468064;2874140;7901013;8101641;20838244;20734064;21083670;21087208;20198643;22691284;20938049;20301610;21392500;20571875;21158937;22066143;21656370;21407269;22272358;22336227;22001923;21815951;22083667;22002062;23444366;23481708;22815559 7054 E7EQI0;F8W8M5;H0Y670;H0Y677;P07101;P78428;Q0PWM2 AA447751;ABBA01032100;AC132217;AF536811;AMYH01003319;AY144494;AY144495;AY211521;BC104967;BC143611;BC143614;BM718799;CH471158;D00269;DQ677336;DQ677337;M17589;M20911;M20912;M23597;M24790;M24791;NG_008128;NM_000360;NM_199292;NM_199293;X05290;Y00414 AAA61167;AAA61168;AAA61170;AAA61171;AAA61172;AAA61173;AAA61174;AAA61179;AAA77650;AAA77651;AAI04968;AAI43612;AAI43615;AAN39538;AAN39539;AAN73289;AAN73290;AAP43671;ABG73364;ABG73365;BAA25094;BAA25095;BAA25096;BAA25097;CAA28908;CAA68472;EAX02490;EAX02491;EAX02492;EAX02493;EAX02494;NP_000351;NP_954986;NP_954987;P07101 Hs.435609 1680942;1741255;1741279;1742513;1742583;1742867;1799004;1799450;1800102;1800704;1801932;1806348;1814696;1815420;1816704;1822098;1841696;2091648;2091650;2091652;2091654;2091656;2091658;2091660;2091662;2091664;2091666;2091668;2091670;2091672;2091674;2091676;2091678;2091680;2091682;2091684;2091686;2091688;2091690;2091692;2091694;2091696;2091698;2091700;2091702;2091704;2091706;2091708;2091710;2091712;2091714;2091716;2091718;2091720;2091722;2091724;2129125;2189771;2216796;2216798;2216800 ECD00347;ECD00576;ECD00907;ECD01213;ECD01847;ECD04129;ECD08379;ECD08746;ECD09396;ECD12135;ECD22045;GDB:179880;GDB:180306;GDB:197838;GDB:197908;GDB:212652;HUMTH01;REN117106;REN117107;REN117108;REN117109;REN117110;REN117111;REN117112;REN117113;REN117114;REN117115;REN117116;REN117117;REN117118;REN117119;REN117120;REN117121;REN117122;REN117123;REN117124;REN117125;REN117126;REN117127;REN117128;REN117129;REN117130;REN117131;REN117132;REN117133;REN117134;REN117135;REN117136;REN117137;REN117138;REN117139;REN117140;REN117141;REN117142;REN117143;REN117144;RH76200;TH;stSG548738;stSG548739;stSG548741 DYT14;DYT5b;TYH OTTHUMP00000011163;OTTHUMP00000011225;OTTHUMP00000011226;dystonia 14;tyrosine 3-hydroxylase;tyrosine 3-monooxygenase APPROVED protein-coding ENSG00000180176 11782 01865 191290;605407 REVIEWED 1320573 TGS1 trimethylguanosine synthase 1 8 8 q11 56848345 56900559 + 56685791 56738005 + 6480464 15130578;19307714;18407833;18391951;18039666;16344560;16341674;15489334;14702039;12943661;12776181;12477932;12200376;12189208;12097419;12032086;11983179;18775984;18660489;11912212;11517327;15574333;21204776;18029348;20546612;16687569;16713569;19386620;20360394;20379614;12754253;18552123;20360068;21139048;21890473;21906983;20679221;21358275 96764 E5RJW7;Q96RS0 ABBA01041748;ABBA01041749;ABBA01041750;ABBA01041751;AC018607;AC100817;AF286340;AF432215;AK026648;AK055178;AK314693;AL832426;AMYH01018732;AMYH01018733;AY028423;AY534911;BC011999;BM853546;BX648548;CH471068;DB082992;NM_024831 AAH11999;AAI60105;AAK27730;AAK83025;AAL99922;AAT02709;BAB15516;BAG37244;BAG51481;EAW86761;EAW86762;EAW86763;NP_079107;Q96RS0 Hs.335068 1657520;1657524;1710806 RH47106;RH48281;SHGC-84146 DKFZp762A163;FLJ22995;NCOA6IP;PIMT;PIPMT CLL-associated antigen KW-2;OTTHUMP00000226391;PRIP-interacting protein PIPMT;PRIP-interacting protein with methyltransferase domain;PRIP-interacting protein with methyltransferase motif;SEREX-defined;cap-specific guanine-N2 methyltransferase;hepatocellular carcinoma-associated antigen 137;nuclear receptor coactivator 6 interacting protein;nuclear receptor coactivator 6-interacting protein;trimethylguanosine synthase;trimethylguanosine synthase homolog APPROVED protein-coding ENSG00000137574 17843 07567 606461 VALIDATED 1352281 THAP10 THAP domain containing 10 This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010] 15 15 15 q23 48064589 48075644 - 68960735 68971807 - 71173681 71184772 - 1580863;6480464 18575747;16189514;15489334;12575992;12477932;16344560;19322201 56906 H0YN95;Q9P2Z0 ABBA01038750;AC090868;AK313472;AL360202;AMYH01006749;BC027857;BC072414;CH471082;DA272000;NM_020147 AAH27857;AAH72414;ABM81853;ABM85015;ABW03329;BAG36257;CAB96109;EAW77863;NP_064532;Q9P2Z0 Hs.591123 1338409;1674486;1677176 D15S131;SHGC-3419;WI-14661 OTTHUMP00000164569;THAP domain-containing protein 10 APPROVED protein-coding ENSG00000129028 23193 15497 612538 REVIEWED 1316870 THAP1 THAP domain containing, apoptosis associated protein 1 The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 8 8 p11.21 42810974 42817631 - 42691817 42698474 - 6480464;7240710 19345147;21370264;15863623;17003378;18073205;19182804;19528516;19345148;17702011;16713569;16366514;16189514;15489334;15111678;14702039;12717420;12575992;12477932;9382482;8125298;20925076;21601506;21638323;19908320;19908325;20083799;20144952;20200153;20211909;21110056;20669277;20865765;20825472;22844099;20687191;21752024;22821615;22903657;21425335;21520283;21495072;21988832;21538522;21800139;21847143;21793105;21782490;21839475;22377579;22987473;22652465;22508326 55145 E9PIS9;Q9NVV9 ABBA01021170;ABBA01021171;AC087533;AI475984;AK001339;AK223231;AL832077;AMYH01018689;BC021721;BG497522;CD639319;CD709111;CH471080;CR457256;NG_011837;NM_018105;NM_199003 AAH21721;ADZ15806;BAA91635;BAD96951;CAG33537;EAW63205;EAW63206;NP_060575;NP_945354;Q9NVV9 Hs.7432 1676248;1678805;1849558;2109947 G19704;RH10510;RH66246;THAP1_9880 DYT6;FLJ10477;MGC33014 4833431A01Rik;OTTHUMP00000229191;OTTHUMP00000229192;OTTHUMP00000229193;THAP domain protein 1;THAP domain-containing protein 1;nuclear proapoptotic factor APPROVED protein-coding ENSG00000131931 20856 15496 602629;609520 REVIEWED 7174761 THAP5P1 THAP domain containing 5 pseudogene 1 7 q36.3 158414865 158416073 - 12690205;12853948 285872 AACC02000072;ABBA01032314;AC093662;AMYH01018209;CH236954;NG_005177 EAL23928 pseudo 22340 INFERRED 1323240 THADA thyroid adenoma associated 2 2 p21 43311479 43676689 - 43457975 43823185 - 6480464 19324937;19247373;19139842;19020324;19020323;18714373;18591388;18567820;18372903;17123335;16344560;12955091;12477932;12063398;11214970;8889548;19502414;19602701;19670153;19720844;19730683;19741467;19767753;19794065;19833888;19862325;19896111;19933996;20023658;20075150;20203524;20379614;20490451;20712903;20878950;20879858;20889853;21151128;21102463;20564319;20571754;20816152;22939629;23028138;22180642;21987572;21139048;21890473;21906983;22190364;21145461;22863734;22885925;21963094;22952603;23128233;23208300;23349771;22139419 63892 B5MC89;B6ZDE5;C9JER1;C9JJB1;F5H3M9;H0Y3V5;H7BYZ4;Q8IY32;Q8TAU8 AB051554;ABBA01075087;ABBA01075088;ABBA01075089;ABBA01075090;ABBA01075091;ABBA01075092;ABBA01075093;ABBA01075094;AC010883;AC092615;AC092838;AC104138;AF323176;AK025445;AK025530;AK126004;AK126824;AK290023;AK307915;AL832141;AMYH01010297;AMYH01010298;AMYH01010299;AMYH01010300;AY149629;AY149633;BC007743;BC025773;BC037990;BC105976;BX641038;BX648155;CA312282;DA332700;NM_001083953;NM_001271643;NM_001271644;NM_022065;NR_073394 AAH07743;AAH25773;AAH37990;AAI05977;AAI67788;AAK11318;AAO46785;AAO46789;AAX93152;AAX93154;AAY14994;BAB15133;BAB15162;BAB21858;BAC86389;BAC86709;BAF82712;NP_001077422;NP_001258572;NP_001258573;NP_071348;Q6YHU6 Hs.369592 1335282;1666624;1672752;1696484;1717895;1722205;1726597;1762447;1762885;1770995;1855541;2131681;2177444;2218824;5015619;5015861;5015961;5022322;5037552;5093698;5093782;5109281;7185938 A009V10;A009W31;D10S16;D11S2560;D11S3114;D15S1477;D1S1425;D2S1311;D2S2782;D2S414;D8S2279;G32871;G32921;G60006;G62531;RH122779;RH45356;SHGC-146272;SHGC-146644;SHGC-79810;THADA__5249;WI-14187 FLJ21877;FLJ44016;FLJ44876;FLJ77530;GITA;KIAA1767 OTTHUMP00000201591;OTTHUMP00000201592;death receptor-interacting protein;gene inducing thyroid adenomas protein;thyroid adenoma-associated protein protein-coding ENSG00000115970 19217 18177 611800 VALIDATED 7174765 THAP5P2 THAP domain containing 5 pseudogene 2 3 p24.3 16316566 16318019 - 100129618 ABBA01025130;AC090953;AMYH01013002;NG_028903 pseudo 44502 INFERRED 1321069 THAP11 THAP domain containing 11 The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008] 16 16 16 q22.1 52384625 52386510 + 66433714 66435599 + 67876213 67878098 + 1580863;6480464 18585351;19008924;15489334;12575992;12477932;9853615;8325628;22673507;22990118;18029348;21890473;21139048;20360068;21400515;22371484;22505724;22797925 57215 Q96EK4 AB015338;ABBA01025461;AC040162;AK289367;AMYH01007753;BC012182;BI261822;BQ898449;CH471092;EF036502;L10378;L10379;NM_020457 AAH12182;ABM83526;ABM86757;ABO65088;BAA34796;BAF82056;EAW83180;NP_065190;Q96EK4 Hs.632200 1732309;1847429;1847431;2156834 A006C32;D16S667E;G20704;RH78543 CTG-B43a;CTG-B45d;HRIHFB2206;RONIN OTTHUMP00000174850;THAP domain-containing protein 11 APPROVED protein-coding ENSG00000168286 23194 11629 609119 REVIEWED 1349583 THAP2 THAP domain containing, apoptosis associated protein 2 12 12 12 q21.1 71720131 71736767 + 70344051 70360686 + 72057677 72074428 + 6480464 11230166;11256614;16381901;15489336;15489334;12575992;12477932;11076863;15342556;16344560;20972266;22566634 83591 F8VW94;F8VYP5;F8W1B8;Q9H0W7 ABBA01026512;AC073612;AK313452;AL136607;AMYH01004578;BC008358;BP371303;CH471054;CR533485;DB301707;NM_031435 AAH08358;BAG36240;CAB66542;CAG38516;CAL37961;EAW97265;NP_113623;Q9H0W7 Hs.245798 2159544 AF021117 DKFZp564I0422 OTTHUMP00000241533;THAP domain-containing protein 2 protein-coding ENSG00000173451 20854 10896 612531 VALIDATED 1351040 THAP3 THAP domain containing, apoptosis associated protein 3 1 1 1 p36.31 5799113 5809502 + 6607839 6618232 + 6684925 6695646 + 1580863;6480464 8889548;16710414;15489334;14702039;12575992;12477932;20200153;21832049;21906983 90326 K7EIZ2;Q8WTV1;R4GNH0 ABBA01035459;ABBA01035460;AF086370;AK096217;AL031447;AMYH01000217;BC005114;BC022081;BC092427;BE905510;BM931707;BU624154;CH471130;NM_001195752;NM_001195753;NM_138350 AAH05114;AAH92427;ABM82596;ABM85782;BAC04727;EAW71562;EAW71563;EAW71564;EAW71565;EAW71566;EAW71567;EAW71568;EAW71569;NP_001182681;NP_001182682;NP_612359;Q8WTV1 Hs.689006 1646894;1684896;1725655;1734594;1772310;2142101;2167219;2170020;5093094 A009F43;D1S1772E;D1S2188;G32516;G62036;RH36717;SHGC-150;SHGC-57899;SHGC-74158 MGC33488 OTTHUMP00000001578;OTTHUMP00000001579;OTTHUMP00000001580;THAP domain-containing protein 3 protein-coding ENSG00000041988 20855 18178 612532 VALIDATED 1353274 THAP5 THAP domain containing 5 7 7 7 q31.1 103016042 103023538 - 107991766 107997133 - 108202671 108210167 - 6480464 12690205;12575992;12477932;19502560;17207965;20602751;21110952;21195082;22006218;21906983 168451 C9JIH7;Q7Z6K1 AACC02000004;ABBA01057890;AC005058;AL833137;AMYH01017839;BC040353;BC053634;CH236947;CH471070;NM_001130475;NM_182529 AAH53634;ADQ33081;EAL24383;EAW83436;EAW83437;NP_001123947;NP_872335;Q7Z6K1 Hs.707689 2150063;2182115 G36369;SHGC-36567 DKFZp313O1132 OTTHUMP00000207003;OTTHUMP00000207004;OTTHUMP00000207005;OTTHUMP00000207007;THAP domain-containing protein 5 protein-coding ENSG00000177683 23188 15498 612534 VALIDATED 1342863 THAP4 THAP domain containing 4 2 2 2 q37.3 236191554 236248451 - 242172493 242225328 - 242523820 242576725 - 1580863;6480464 15815621;15498874;15489334;14702039;12575992;12477932;10810093;8125298;16169070;20171287;21832049;21900206 51078 B5MCC0;Q8WY91 ABBA01006056;ABBA01006057;ABBA01006058;ABBA01006059;AC133528;AC133781;AF132970;AF258556;AK001216;AK225608;AMYH01011633;AMYH01011634;BC000247;BC000767;BC001842;BC009439;BC069235;BC071896;BC094822;BX405245;CH471063;NM_001164356;NM_015963 AAD27745;AAG23759;AAH00247;AAH00767;AAH01842;AAH09439;AAH69235;AAH71896;AAH94822;AAY14918;BAA91560;EAW71276;EAW71277;NP_001157828;NP_057047;Q8WY91 Hs.435759 2153129;2175291 A003A42;D2S2817 CGI-36;PP238 OTTHUMP00000164605;OTTHUMP00000200176;OTTHUMP00000200177;THAP domain-containing protein 4 protein-coding ENSG00000176946 23187 11630 612533 VALIDATED 1353555 THAS thoracoabdominal syndrome 7240710 2139758 7055 11783 5509656 THAP7-AS1 THAP7 antisense RNA 1 22 q11.21 21356211 21364663 + 12477932;14702039 439931 Q8N8F4 ABBA01015433;AC002472;AK096901;AK097739;AMYH01012539;AMYH01012540;AW291941;BC065749;BC110368;NR_027051;NR_027052 BAC04889;Q8N8F4 Hs.517430 2154668 STS-H59275 FLJ39582;FLJ40420 APPROVED miscrna ENSG00000230513 41013 VALIDATED 1317614 THAP7 THAP domain containing 7 22 22 22 q11.2 4845380 4847723 - 19684061 19686404 - 21354061 21356404 - 1580863;6480464 18585351;18029348;16341674;16195249;16189514;15561719;15489334;15461802;12575992;12477932;17577209;20211142;21832049;21900206 80764 Q9BT49 ABBA01015433;AC002472;AK024609;AK025906;AK300715;AK315457;AMYH01012539;BC004346;BE264280;BI223500;BM790105;CH471176;CR456343;NM_001008695;NM_030573 AAH04346;ACE87080;ACE87760;BAG37844;BAG62392;CAG30229;CAK54485;CAK54784;EAX02918;EAX02919;EAX02920;EAX02921;NP_001008695;NP_085050;Q9BT49 Hs.512756 1676506;2154668 RH15764;STS-H59275 MGC10963 OTTHUMP00000198642;OTTHUMP00000198643;THAP domain-containing protein 7 protein-coding ENSG00000184436 23190 15500 609518 VALIDATED 1320801 THAP6 THAP domain containing 6 4 4 4 q21.1 73735788 73751370 + 76658678 76674260 + 76439654 76455236 + 1580863;6480464 11256614;16381901;16344560;15489336;15489334;14702039;12575992;12477932;11230166;11076863 152815 B4E146;D6RBC3;D6RC19;D6REL7;D6REQ5;D6RF27;D6RFK7;D6RJG2;Q8TBB0 ABBA01063343;AC096759;AK056959;AK303658;AK308914;AK309187;AK310575;AK313765;AL833350;AMYH01014305;BC022989;BX647579;CH471057;DA995979;NM_144721 AAH22989;BAG36503;BAG64658;CAI46093;CAI46111;CAL37868;CAL38579;EAX05730;EAX05731;EAX05732;EAX05733;EAX05734;EAX05735;EAX05736;NP_653322;Q8TBB0 Hs.479971 1687602;1749051;1773436;2106717;2154764;5017530;5118444 D11S3316;IB822;RH98829;SHGC-110679;SHGC-50481;THAP6;THAP6__5250 MGC30052 OTTHUMP00000160601;OTTHUMP00000219099;OTTHUMP00000219101;OTTHUMP00000219103;THAP domain-containing protein 6 protein-coding ENSG00000174796 23189 15499 612535 VALIDATED 1343379 THAP8 THAP domain containing 8 19 19 19 q13.12 33240067 33259840 - 41217727 41237504 - 36525887 36545664 - 1580863;6480464 15489334;14702039;12575992;12477932;16169070;17207965 199745 B4DMU1;E5RHW1;Q8NA92 ABBA01018777;AC002116;AD000813;AK057453;AK093048;AK296640;AK297630;AMYH01009738;BC046207;BC072416;JQ410992;NM_152658 AAH46207;AAH72416;ADQ32020;AFC88284;BAB71493;BAC04034;BAG59241;BAG60003;NP_689871;Q8NA92 Hs.350209 1336138;1662644;2109949;7185335 D19S224;RH15953;THAP8__5251 FLJ32891 OTTHUMP00000045819;OTTHUMP00000226860;THAP domain-containing protein 8 protein-coding ENSG00000161277 23191 15501 612536 PROVISIONAL 6767520 THAP9-AS1 THAP9 antisense RNA 1 4 83814605 83822069 - 11309667;12477932;16341674;16344560;9461396 100499177 ABBA01063449;AC021105;AF278605;AK128047;AK128593;AMYH01014357;BC016510;BC020725;BC045722;BC063702;BI831787;BM742750;DA084883;DA361777;DA923162;NR_034075;NR_034076;NR_034077;U92014 Hs.728916 1664042;5020948;5092674 A005P30;G32257;G35510 APPROVED miscrna ENSG00000251022 44172 VALIDATED 1350927 THC2 thrombocytopenia 2 (autosomal dominant) 7240710 10521306 23672 11790 188000 1349156 THAP9 THAP domain containing 9 4 4 4 q21.22 81112405 81131838 + 84040861 84060146 + 83821837 83841284 + 6480464 16344560;15616143;14702039;12575992;12477932;8125298;23349291 79725 D6R957;D6RCT5;D6REM3;F2Z371;H0Y9F3;Q9H5L6 ABBA01063449;AC021105;AJ717666;AK026973;AK091412;AK225333;AMYH01014357;BC131722;BX648134;DA317935;DB154392;NM_024672 AAI60017;BAB15609;BAG52354;CAG30691;NP_078948;Q9H5L6 Hs.582050 1690960;2179529 RH94109;SHGC-67806 FLJ23320;FLJ34093;hTh9 DNA transposase THAP9;OTTHUMP00000160801;THAP domain-containing protein 9 protein-coding ENSG00000168152 23192 15502 612537 VALIDATED 1345942 THBS1 thrombospondin 1 The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008] 15 15 q15 37660572 37676960 + 39873280 39889668 + 1580062;1580063;1580064;1580065;1580066;1580863;2325029;2325028;2317960;2317961;1626167;2325023;2325024;2317938;2317939;2317942;2317943;2317959;2325022;2325025;2325026;2325021;2325027;2317941;6480464;6484113;6907045 16270194;15217952;15007078;15140581;12927044;10427124;10766168;16179730;16076702;15459484;16757110;16465407;20136391;19719963;17640965;17117553;16630453;19065635;12429967;12213730;20203415;17878288 21193465;16263699;18700275;18676351;18675774;18661355;18653767;18641687;18515748;18499674;18425817;18413367;18384112;18336597;18321763;18319354;18275041;18226512;18222489;18208671;18178577;18089612;18057090;18035072;18021253;17917789;17709727;17706282;17638877;17620335;17572512;17507668;17487836;17374440;17363705;17289869;17198740;17175378;17106256;16962673;16951312;16835379;16740002;16732887;16684956;16650813;16618977;16495290;16478297;16388804;16344560;16335952;17596205;18674744;16882710;18555217;17416590;6438154;3997886;15700281;18096704;6338048;19581582;19435835;19396698;19383251;19351925;19271751;19250552;19239428;18855618;18855616;18853485;18712840;17879962;6693501;2435757;3084490;6777381;17996481;9304800;17413041;18757424;12964017;12947001;12909644;12902472;12878157;12824298;12782324;12759541;12718556;12679131;12676576;12658547;12643280;12609716;12598312;12553016;12530526;12482844;12477932;12450399;12444143;12443715;12391027;12358136;12220191;12147682;12147243;12054567;11986954;11980922;11964147;11920574;11882904;11820799;11801541;11773026;11606713;11358957;11094060;11067851;11023976;10922378;10900205;10772961;10749676;10487979;10398144;10397731;9867861;9840442;9657149;9478926;9459346;9334164;9328841;9169439;9045712;8751720;8550562;8463250;8408036;7775583;7521539;3571333;3461443;3402455;3030396;2918029;2745554;2544587;2522013;2478219;2430973;2341158;2335352;1550960;1350660;9419208;10698186;15696166;16150726;16148025;16147889;16141331;16100012;16037098;16006654;15945504;15927849;15908066;15907858;15890262;15855645;15833768;15820829;15817447;15792551;15730804;15665307;15634883;15583827;15522326;15503824;15456750;16166434;15356163;15347840;15342643;15292271;15166498;15113588;15037654;15034804;15014436;14991768;14718574;14683523;14583433;14568985;14561896;14559817;14557872;14555767;21107877;21420687;21378271;22383169;21148423;20546609;20470445;19959938;19913121;20485444;20628086;20673868;20494556;20016205;101549;10982388;15258909;15634279;15799029;18688696;18726995;18788631;18940719;19414528;19447890;19509293;19531495;19542224;19570906;19584238;19661269;19687096;19698122;19706610;19710505;19715883;19721725;19732880;19738618;19747478;19762163;19805200;19826414;19906510;19998449;20056600;20103648;2010551;20182908;20204299;20346360;20452482;20453000;20467328;20300551;20655775;20458281;20498063;19422532;19485899;20923780;22231149;22796565;20705333;20372793;20876797;20625903;20927579;21157449;21317461;15095410;22198906;22403705;20492458;21474793;21659549;21296375;21161418;21845757;21343308;21402050;21142150;22971480;22672426;21152035;21217824;21437286;21526452;19958625;21531776;22308318;21822266;20360068;21501375;20449626;22318901;21518247;22028813;22014686;21762961;22311024;23145312;23315169;21139048;22028325;22037878;21899841;22194599;22207555;22247259;22035632;21307796;22238753;21883885;11134179;22011138;22024541;22136730;19322201;22268819;22583901;22592401;23350987;23667531;21565611;23119050;22982001;23030305;17378161;8288588 7057 A8MZG1;P07996 AB209912;ABBA01038471;AC037198;AI290070;AK291639;AK293230;AK304754;AK309613;AK310820;AMYH01006555;AU117102;AU279999;BC028145;BC136469;BC136470;BG251169;CA411820;CH471125;J04835;M14326;M25631;M99425;NM_003246;U12471;X04665;X14787 AAA21127;AAA36741;AAA61178;AAA61237;AAB59366;AAH28145;AAI36470;AAI36471;BAD93149;BAF84328;BAG56769;BAG65509;CAA28370;CAA32889;EAW92379;EAW92380;EAW92381;NP_003237;P07996 Hs.164226 1729101;1792520;1792848;1796936;1856769;2180781;2186769;2190789;5017591 6STS01;D15S1164;PMC152639P1;PMC165731P1;RH70562;RH77893;THBS1;THBS1_279;Tcf12 THBS;THBS-1;TSP;TSP-1;TSP1 OTTHUMP00000165029;thrombospondin-1;thrombospondin-1p180 APPROVED protein-coding 11785 01765 188060 REVIEWED 1322186 THBS2 thrombospondin 2 The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008] 6 6 q27 169357800 169396062 - 169615875 169654137 - 1580069;1580071;1580863;2317938;1598407;6480464;6907045;7240710 15284191;12482844;20136391 1459996;6338048;19282863;19056482;18955754;18720079;18718009;18682400;18600213;18455130;18178577;18089612;18032585;17638877;17620335;17334638;17202846;17182969;16246837;16186819;15347840;15121769;14561659;12909644;12861025;12824879;12732502;12477932;12358136;12058057;11980922;11943589;11590138;11387198;11147677;10900205;10491303;10329465;9442117;9249061;8406456;1559694;20472562;19913121;20485444;20628086;19578796;19592030;19631562;19818485;20227257;8463250;21682699;21762961;22318606;21949402;22308237;22035575;23470460;23251661 7058 P35442;Q5RI53;Q6MZL6 AA853383;AA853654;ABBA01000386;ABBA01000387;ABBA01000388;AI130835;AK292429;AL603377;AMYH01016877;AMYH01016878;BC146676;BC150175;BX322234;BX390187;BX641023;CA411880;CH471051;L12350;M81339;NG_022911;NM_003247;U79410 AAA03703;AAI46677;AAI50176;BAF85118;CAE46014;EAW47453;EAW47454;EAW47455;NP_003238;P35442 Hs.371147 1768886;1791628;1796938;2151253;2168530 PMC117612P2;RH66433;RH67905;SHGC-12844;THBS2_1305 TSP2 OTTHUMP00000042899;thrombospondin-2 APPROVED protein-coding ENSG00000186340 11786 01766 188061;603932 REVIEWED 5686949 THEM4P1 thioesterase superfamily member 4 pseudogene 1 12 p12.1 22161592 22162324 + 677880 ABBA01067977;AC092862;AMYH01004321;NG_032023 pseudo 32692 INFERRED 1349382 THBD thrombomodulin The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008] 20 20 p11.2 22974270 22978301 - 23026270 23030301 - 1580052;1580053;1580060;1580061;634506;1601638;1601651;1601636;1601645;1601646;1601652;1601640;1601639;1601641;1601654;1580863;2312456;2312457;2312460;1601648;2312458;2312461;2312459;2312462;5684980;5685021;5684985;5685006;5685020;5685017;5685018;5685023;5685037;5684978;5684981;5685033;5684983;5684984;5685015;5684986;5685013;5685010;5685034;5684988;5684995;5685036;5685038;5685372;5685011;5685035;5131887;5685024;5684979;5684982;5684994;5685007;5684987;6480464;6907045;7240710 12480554;15519195;15307903;16136486;10231031;17012137;12707536;17401180;15262191;14737039;12611420;16651309;16784493;16567841;11882417;17200788;17195062;11453033;17090405;11738074;19461288;11596671;17577447;21885846;15574195;20156770;17899683;15700117;16095049;15760641;15209962;20348393;22170884;21873362;21812019;21556780;20709825;16879225;20581778;17067436;17804460;21569368;19487933;18484695;20418386;21112949;19536047;17557119;20607726;19342415;15187749;22129968;21645225;19176699;17895610;20160670 14983241;14769148;14715348;14702039;14556624;14523329;12951323;12920633;12918732;12878585;12871600;12871544;12862205;12831611;12709053;12588872;12576329;12477932;12407115;12297717;12210386;12204814;12139752;12135317;12068020;12066950;12031986;11986219;11864708;11864703;11858479;11848462;11846431;11780052;11734675;11642722;11552992;11257274;11245641;11231927;10336638;14691232;9252393;2822087;2538457;19420105;19356953;19238444;19133039;19091791;19074424;19055859;18991188;18977990;18974842;18947863;18940182;18590927;18579691;18568955;18373234;18204921;18035074;17982464;17895503;17875054;17849052;17848551;17702963;17677000;17287633;17278618;17275499;17099210;17099142;17049585;17003923;16507317;16456088;16418283;16307806;16153429;16126727;16043642;15900300;15897668;15842356;15837080;15714116;15705565;15677570;15613027;15582990;15489334;15488871;15183044;15178554;15135268;15099291;15080580;14987915;11106601;10066849;9843165;9395524;9367781;9198186;9157575;9045633;8745396;8663147;8661740;8528067;8216207;7947766;7811989;7615164;7559494;3001144;2839283;2836377;2820710;2819876;2544585;1667949;8390446;8244401;22593542;22796578;19913121;20538124;20628086;20673868;17379830;19278588;19436051;19477487;19578796;19609862;19625716;19638712;19656282;19682239;19900089;19948975;20036902;20051099;20116378;20128871;20237496;20346360;20379614;20452482;20453000;20479115;20479116;20513133;21150180;20542541;20627281;20505198;20479117;20713448;21041299;22206250;21239103;21370217;22985614;21423464;21489980;21911804;21896842;21833011;21466416;21828042;22410019;22573811;21988832;21890178;23520161;22232927;21805323;21774968;20301541;20309589;23274063;23140098;22918506;22426543;23383040;22682121;22750541;22880619;22903729;22533488 7056 P07204 ABBA01016174;AF495471;AI285986;AK091934;AK123557;AL049651;AMYH01011774;BC035602;BC053357;BG771668;CH471133;D00210;J02973;M16552;NG_012027;NM_000361;X05495 AAA61175;AAB59508;AAH35602;AAH53357;AAM03232;BAA00149;BAG53913;CAA29045;EAX10172;NP_000352;P07204 Hs.2030 1654920;1670816;1721437;1776949;1796934 D20S1074;G59570;RH17358;RH48330;THBD_277 AHUS6;BDCA3;CD141;THPH12;THRM;TM CD141 antigen;OTTHUMP00000030415;fetomodulin;thrombomodulin APPROVED protein-coding ENSG00000178726 11784 01764 188040;612926;614486 REVIEWED 1319470 THEG theg spermatid protein This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 19 19 19 p13.3 436315 450267 + 313057 327009 - 362057 376013 - 1580863;6480464 10747865;16189514;12748127;12477932;11173852;19060904 51298 Q9P2T0 AB033129;ABBA01002556;ABBA01002557;AC016588;AF268610;AMYH01009180;BC028574;CH471242;DR731298;NM_016585;NM_199202 AAG17663;AAH28574;ABM81821;ABM84975;BAA93718;EAW61203;EAW61204;EAW61205;NP_057669;NP_954672;Q9P2T0 Hs.250002 CT56;MGC26138;THEG1 OTTHUMP00000229948;OTTHUMP00000229950;Theg homolog;cancer/testis antigen 56;testicular haploid expressed gene protein;testis-specific APPROVED protein-coding ENSG00000105549 13706 15503 609503 REVIEWED 5688605 THEGL theg spermatid protein-like 4 57396775 57469489 + 12477932 100506564 P0DJG4 ABBA01003426;ABBA01003427;ABBA01003428;ABBA01003429;ABBA01003430;AC108215;AMYH01014195;DB450279;DW009623;DY655427;DY655539;NM_001256475 NP_001243404;P0DJG4 Hs.573073 1337818;1650169;1677292;2115239 D4S1583;D9S2017;SHGC-67420;STS-T87883 testicular haploid expressed gene protein-like;theg spermatid-like protein;uncharacterized protein LOC100506564 protein-coding ENSG00000249693 43771 VALIDATED 1314326 THBS3 thrombospondin 3 The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011] 1 1 q21 153432003 153444314 - 155165379 155177772 - 1580863;6480464;6907045 8288588;8468055;6338048;17022822;15489334;12477932;11943589;11137453;10527891;10329465;9331372;8125298;7759526;7558000;1601886;1459996;16344560 7059 B4DQH6;F5H4Z8;P49746;Q2HIZ1 ABBA01016713;AF023268;AK074796;AK223278;AK298592;AK298803;AK298914;AK311031;AK314337;AL713999;AMYH01001426;BC018786;BC113846;BC113847;BX490216;CH471121;DA755868;L38969;NM_001252607;NM_001252608;NM_007112;NR_045553 AAC41762;AAC51818;AAH18786;AAI13847;AAI13848;BAD96998;BAG52003;BAG60782;BAG60938;BAG61021;EAW53109;EAW53110;NP_001239536;NP_001239537;NP_009043;P49746 Hs.169875;Hs.658188 1768630;2153445 RH69319;WI-12606 MGC119564;MGC119565;TSP3 OTTHUMP00000033827;thrombospondin-3 APPROVED protein-coding ENSG00000169231 11787 01767 188062 REVIEWED 735475 THBS4 thrombospondin 4 The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. [provided by RefSeq, Jul 2008] 5 5 q13 79366747 79414866 + 79331170 79379110 + 1580073;1580863;6480464;6907045 15897551 17182969;7852353;7490284;6338048;19420105;18178577;17709521;17202846;22745497;16923428;16246837;16148025;15489334;15474480;15131549;15121769;14674882;12482844;12477932;11967953;11137453;10501972;8432726;8350346;19913121;20485444;20628086;20628624;20673868;12952849;16099885;17927980;18802666;19578796;19834535;20227257;20452482;7519904;20846368;22011848;21701537 7060 E7ES19;P35443 ABBA01062029;AC012636;AC112184;AK302842;AK313587;AMYH01015443;AY566253;BC050456;CH471084;NM_003248;Z19585 AAH50456;AAS66982;BAG36356;BAH13818;CAA79635;EAW95841;NP_003239;P35443 Hs.211426 1650237;2191177;5017724 MARC_15765-15766:1041972257:1;SHGC-12514;THBS4 TSP4 OTTHUMP00000135313;OTTHUMP00000222343;thrombospondin-4 APPROVED protein-coding ENSG00000113296 11788 02836 600715 REVIEWED 1349166 THM thymoma 7240710 7063 11792 1603281 THEM4 thioesterase superfamily member 4 Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008] 1 1 1 q21 124960686 124996752 - 150112684 150148737 - 151843342 151882361 - 6480464 19168129;17615157;16341674;15026474;14702039;12477932;11598301;8889548;18029348;20877624;19604401;19679565;22200884 117145 A8K0C9;E9PLJ7;F6XC58;Q5T1C6 ABBA01049406;AF075119;AJ313515;AK024219;AK096211;AK130716;AK289494;AK314852;AL450992;AMYH01001395;BC017339;BC065277;BE349541;BM688785;BM787449;BQ774123;CH471121;DC353229;NM_053055 AAH65277;BAC85412;BAF82183;BAG37369;CAC86384;EAW53400;EAW53401;EAW53402;NP_444283;Q5T1C6 Hs.164070 1682662;1683621;2117887;2151320;5015961;5021396;5022200;5022322;5022578;5037552 D11S2560;D15S1477;D1S1423;D8S2279;GDB:313783;L18426;RH48117;RH64680;RH94002;WI-17569 CTMP;FLJ27206;MGC29636 C-terminal modulator protein;OTTHUMP00000015248;acyl-CoA thioesterase THEM4;acyl-coenzyme A thioesterase THEM4;carboxyl-terminal modulator protein;thioesterase superfamily member 4 APPROVED protein-coding 17947 16215 606388 REVIEWED 1601923 THEM5 thioesterase superfamily member 5 1 1 1 q21.3 124934271 124940820 - 150084844 150092797 - 151819577 151826173 - 6480464 22586271;14702039;12477932;20877624;20237496 284486 H0Y6P4;Q8N1Q8 ABBA01049405;AK095283;AL450992;AMYH01001395;BC101610;BC112239;CH471121;NM_182578 AAI01611;AAI12240;ADR82891;BAC04521;EAW53404;NP_872384;Q8N1Q8 Hs.132648 2142877 RH66023 FLJ37964;MGC126659;MGC138444 OTTHUMP00000015272;OTTHUMP00000015273;acyl-CoA thioesterase THEM5;acyl-coenzyme A thioesterase 15;acyl-coenzyme A thioesterase THEM5;thioesterase superfamily member 5 protein-coding 26755 08233 VALIDATED 1602485 THEM6 thioesterase superfamily member 6 8 8 8 q24.3 140119708 140129412 + 143805623 143815352 + 143808621 143818350 + 6480464 16341674;16303743;14702039;12477932;21182205;20360068;21139048;21906983 51337 H0YAR9;Q8WUY1 ABBA01005289;AC083841;AC108002;AF242773;AK055140;AK075407;AK315614;AMYH01019091;AMYH01019092;BC001311;BC019104;BM744164;CH471162;NM_016647 AAF65450;AAH01311;AAH19104;BAC11600;BAG37983;EAW82309;NP_057731;Q8WUY1 Hs.368402 1676101;2117276;2169160;5019689 A009E39;G32486;RH15611;RH98969 C8orf55;DSCD75 OTTHUMP00000227198;UPF0670 protein C8orf55;UPF0670 protein THEM6;mesenchymal stem cell protein DSCD75;protein THEM6 APPROVED protein-coding ENSG00000130193 29656 14241 VALIDATED 1603481 THEMIS thymocyte selection associated This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] 6 6 6 q22.33 128771575 128982019 - 128071038 128281435 - 128029339 128239776 - 6480464 19597499;19597498;19597497;14702039;12477932;21833088;22732588;22610119;22610502;19620281;19805304;11329013;16344560;19621038;20095854;20190752;19913121;20628086;21189249;23460737;23534349;23455924;22505724 387357 F5H1J9;Q6MZT7 ABBA01025925;ABBA01025926;ABBA01025927;ABBA01025928;AK094863;AK097903;AK124031;AK128377;AK292046;AL035470;AL356432;AL365224;AMYH01016659;BC043608;BC130516;BC144034;BG461112;BX640890;BX956657;CH471051;DA818250;GN344755;HI574290;NG_016226;NM_001010923;NM_001164685;NM_001164687 AAI30517;ADR83235;BAC05194;BAF84735;BAG52943;BAG53994;BAG54669;CAE45941;CAY56007;CBX47634;EAW48091;EAW48092;NP_001010923;NP_001158157;NP_001158159;Q8N1K5 Hs.661756 1684501;1718601;1721223;1785948;2150912;2184951;5094150 G54574;G59455;RH122986;RH37468;RH93059;SHGC-144779;WI-10674 C6orf190;C6orf207;FLJ40584;GASP;MGC163388;SPOT;TSEPA;bA325O24.3;bA325O24.4 GRB2-associated protein;OTTHUMP00000017177;protein THEMIS;signaling phosphoprotein specific for T cells;thymocyte expressed molecule involved in selection;thymocyte selection pathway associated;thymocyte-expressed molecule involved in selection APPROVED protein-coding ENSG00000172673 21569 16662 613607 REVIEWED 1343746 THNSL1 threonine synthase-like 1 (S. cerevisiae) 10 10 10 p12.1 25006921 25017017 + 25345514 25355599 + 25305508 25315593 + 737633;1580863;6480464 12477932 17034760;16344560;15489334;15164054;14702039;16385451;19615732;20186120 79896 Q8IYQ7;Q9H6P9 ABBA01034436;AK025655;AK094362;AK125249;AL512598;AMYH01002196;BC016697;BC035132;BX647989;CH471072;CR457346;DA496769;NM_024838 AAH16697;AAH35132;BAB15205;BAC04338;BAG54173;CAG33627;EAW86113;EAW86114;NP_079114;Q8IYQ7 Hs.645274 1772138 WI-21957 FLJ22002;TSH1 OTTHUMP00000019329;OTTHUMP00000236096;threonine synthase-like 1;threonine synthase-like 1 (bacterial) protein-coding ENSG00000185875 26160 07974 611260 VALIDATED 1353481 THEMIS2 thymocyte selection associated family member 2 1 1 1 p35.3 26594105 26609051 + 28071642 28085780 + 28199055 28213196 + 6480464 22732588;9563507;19308812;16710414;16219472;15489334;14702039;12477932;12191572;20569072;19942713;20379614;21455565;20644716;23474491;22565810 9473 H7C124;Q5TEK2;Q68DP4;Q8N1V6 AA477142;AB035482;AB050854;ABBA01034998;ABBA01034999;ABBA01035000;ABBA01035001;AF044896;AF323721;AK094833;AK303090;AK303141;AL109927;AMYH01000424;AMYH01000425;BC031655;BC132692;BC133049;BG716895;BI908174;BM146655;CH471059;CR749321;DB548309;NM_001039477;NM_001105556;NM_004848 AAC16284;AAH31655;AAI32693;AAI33050;ADR83502;BAA96464;BAB33313;BAC04431;BAG64201;BAG64245;CAH18176;EAX07725;EAX07726;EAX07727;EAX07728;EAX07729;EAX07730;NP_001034566;NP_001099026;NP_004839;Q5TEJ8 Hs.10649 1733014;1734204;2142436 D1S1378;D1S1741E;SHGC-74465 C1orf38;ICB-1 OTTHUMP00000003850;OTTHUMP00000003991;OTTHUMP00000003993;basement membrane-induced;induced by contact to basement membrane 1 protein;protein ICB-1;protein THEMIS2;thymocyte-expressed molecule involved in selection protein 2 APPROVED protein-coding ENSG00000130775 16839 12728 VALIDATED 1603030 THG1L tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) 5 5 5 q33.3 153184922 153193373 + 157090901 157099350 + 157158323 157166772 + 6480464 11256614;18508967;15459185;14702039;12477932;11230166;8125298;16189514;21078997;20877624;22863883;22939629;21139048;21890473;21906983;21044950;21784897;23314748 54974 E5RIQ8;H0YC78;Q9NWX6 ABBA01044264;AC026407;AF086486;AK000553;AK021663;AK023355;AK223119;AK304590;AL136669;AMYH01015748;AY463216;BC001523;BC001852;BC023521;CH471062;CR533503;NM_017872 AAH01523;AAH01852;AAH23521;AAS21134;BAA91249;BAB13870;BAB14540;BAD96839;BAG65378;CAB66604;CAG38534;EAW61590;EAW61591;NP_060342;Q9NWX6 Hs.353090 1683847;1857412;1857414 RH91252;SHGC-57583;SHGC-58349 FLJ11601;FLJ20546;ICF45;IHG-1 OTTHUMP00000160747;induced by high glucose-1;interphase cytoplasmic foci protein 45;probable tRNA(His) guanylyltransferase protein-coding 26053 13726 PROVISIONAL 1605368 THNSL2 threonine synthase-like 2 (S. cerevisiae) This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] 2 2 2 p11.2 88299987 88316198 - 88250950 88267261 + 88469814 88486156 + 6480464 17034760;16413481;16344560;14702039;12477932;16169070;19877052;21299892;22589738 55258 A8K0C1;C9J3J1;C9JU10;Q86YJ6 ABBA01018805;ABBA01018806;ABBA01018807;ABBA01018808;AC092836;AI313402;AK001778;AK092823;AK095303;AK289486;AK315831;AL832746;AMYH01010628;BC035315;BC047758;BC050699;BC064423;BI765911;CH471215;DA044670;DA196694;DB024675;HM185274;NG_030037;NM_001244676;NM_001244678;NM_018271 AAH35315;AAH47758;AAH64423;AAX88906;ADL14696;BAA91904;BAF82175;BAF98722;BAG53023;EAW77072;EAW77073;EAW77074;NP_001231605;NP_001231607;NP_060741;Q86YJ6 Hs.739080;Hs.740434 1699684;2136168;2175726 D2S2610;RH103447;RH47580 FLJ10916;FLJ35504;SOFAT;THS2;TSH2 OTTHUMP00000160830;OTTHUMP00000160831;secreted osteoclastogenic factor of activated T cells;secreted osteoclastogenic factor of activated T-cells;threonine synthase-like 2 APPROVED protein-coding ENSG00000144115 25602 07715 611261 REVIEWED 6481316 THOC7-AS1 THOC7 antisense RNA 1 100874039 AC104162 APPROVED miscrna 41249 1353819 THOC2 THO complex 2 The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010] X X X q25-q26.3 123120365 123252932 - 122562093 122694585 - 122734412 122866904 - 1580863;6480464;6907045 14702039;17474147;17081983;16964243;16344560;15998806;15302935;12477932;11979277;9771704;15833825;15870275;17190602;18974867;22939629;19596686;22178446;19471022;21139048;21693764;21890473;21906983;21628590;22586326;22505724 57187 B7ZB98;B7ZBA0;F2Z2V2;H0Y576;H0Y594;H0Y7U4;H0Y815;H7C477;Q8NI27 ABBA01036350;ABBA01036351;ABBA01036352;ABBA01036353;ABBA01036354;ABBA01036355;ABBA01036356;ABBA01036357;ABBA01036358;ABBA01036359;ABBA01036360;ABBA01036361;ABBA01036362;ABBA01036363;ABBA01036364;ABBA01036365;ABBA01036366;ABBA01036367;ABBA01036368;ABBA01036369;AF441770;AK001758;AK023659;AK296780;AL023575;AL030996;AMYH01022935;AW206982;BC054050;BC063692;BC072400;BF212673;BX648654;CH471107;DA504931;NG_021468;NM_001081550;Z82901 AAH63692;AAH72400;AAI72220;AAM28436;BAB14630;BAG59358;CAE46196;CAI42864;EAX11863;NP_001075019;Q8NI27 Hs.149991 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AL032609;D11S2921;DXS7265;DXS7333;DXS7505;DXS7628;ECD00137;ECD01009;ECD01179;ECD03797;ECD04631;ECD05053;ECD05514;ECD06363;ECD06886;ECD07115;ECD08726;ECD08874;ECD09302;ECD10079;ECD10080;ECD10488;ECD11011;ECD11268;ECD11366;ECD12002;ECD12157;ECD13926;ECD13927;ECD14051;ECD14434;ECD15333;ECD16094;ECD16122;ECD16153;ECD16270;ECD16548;ECD16601;ECD16883;ECD17062;ECD17694;ECD17974;ECD18407;ECD18690;ECD19073;ECD19244;ECD20035;ECD20231;ECD20265;ECD20576;ECD20577;ECD21759;ECD22246;ECD22328;ECD22420;ECD22588;ECD22992;ECD23308;ECD23880;ECD23958;ECD23992;ECD24034;ECD24133;ECD24158;ECD24288;G54550;G65743;MARC_3228-3229:991936926:1;REN50830;REN50831;REN50832;REN50833;REN50834;REN50835;REN50836;REN50837;REN50838;REN50839;REN50840;REN50841;REN50842;REN50844;REN50845;REN50846;REN50847;REN50848;REN50849;REN50850;REN50851;REN50852;REN50853;REN50854;REN50855;REN50856;REN50857;REN50858;REN50859;REN50860;REN50861;REN50862;REN50863;REN50864;REN50865;REN50866;REN50867;REN50868;REN50869;REN50870;REN50871;REN50872;REN50873;REN50874;REN50875;REN50876;REN50877;REN50878;REN50879;REN50880;REN50881;REN50882;REN50883;REN50884;REN50885;REN50886;REN50887;REN50888;REN50889;REN50890;REN50891;REN50892;REN50893;REN50894;REN50895;REN50896;REN50897;REN50898;REN50899;REN50900;REN50901;REN50902;REN50903;REN50904;REN50905;REN50906;REN50907;REN50908;REN50909;REN50910;REN50911;REN50912;REN50913;REN50914;REN50915;REN50916;REN50917;REN50918;REN50919;REN50920;REN50921;REN50922;REN50923;REN50924;REN50925;REN50926;REN50927;REN50928;REN50929;REN50930;REN50931;REN50932;REN50933;REN50934;REN50935;REN50936;REN50937;REN50938;REN50939;REN50940;REN50941;REN50942;REN50943;REN50944;REN50945;REN50946;REN50947;REN50948;REN50949;REN50950;REN50951;REN50952;REN50953;REN50954;REN50955;REN50956;REN50957;REN50958;REN50959;REN50960;REN50961;REN50962;REN50963;REN50964;REN50965;REN50966;REN50967;REN50968;REN50969;REN50970;REN50971;REN50972;REN50973;REN50974;REN50975;REN50976;REN50977;REN50978;REN50979;REN50980;REN50981;REN50982;REN50983;REN50984;REN50985;REN50986;REN50987;REN50988;REN50989;REN50990;REN50991;REN50992;REN50993;REN50994;REN50995;REN50996;REN50997;REN50998;REN50999;REN51000;REN51001;REN51002;REN51003;REN51004;REN51005;REN51006;REN51007;REN51008;REN51009;REN51010;REN51011;REN51012;REN51013;REN51014;REN51015;REN51016;REN51017;REN51018;REN51019;REN51020;REN51021;REN51022;REN51023;REN51024;REN51025;REN51026;REN51027;REN51028;REN51029;REN51030;REN51031;REN51032;REN51033;REN51034;REN51035;REN51036;REN51037;REN51038;REN51039;REN51040;REN51041;REN51042;REN51043;REN51044;REN51045;REN51046;REN51047;REN51048;REN51049;REN51050;REN51051;REN51052;REN51053;REN51054;REN51055;REN51056;REN51057;REN51058;REN51059;REN51060;REN51061;REN51062;REN51063;REN51064;REN51065;REN51066;REN51067;REN51068;REN51069;REN51070;REN51071;REN51072;REN51073;REN51074;REN51075;REN51076;REN51077;REN51078;REN51079;REN51080;REN51081;REN51082;REN51083;REN51084;REN51085;REN51086;REN51087;REN51088;REN51089;REN51090;REN51091;REN51092;REN51093;REN51094;REN51095;REN51096;REN51097;REN51098;REN51099;REN51100;REN51101;REN51102;REN51103;REN51104;REN51105;REN51106;REN51107;REN51108;REN51109;REN51110;REN51111;REN51112;REN51113;REN51114;REN51115;REN51116;REN51117;REN51118;REN51119;REN51120;REN51121;REN51122;REN51123;REN51124;REN51125;REN51126;REN51127;REN51128;REN51129;REN51130;REN51131;REN51132;REN51133;REN51134;REN51135;REN51136;REN51137;REN51138;REN51139;REN51140;REN51141;REN51142;REN51143;REN51144;REN51145;REN51146;REN51147;REN51148;REN51149;REN51150;REN51151;REN51152;REN51153;REN51154;REN51155;REN51156;REN51157;REN51158;REN51159;REN51160;REN51161;REN51162;REN51163;REN51164;REN51165;RH16331;RH45451;SGC34672;STS-N52168;stSG633368;stSG633369;stSG633370;stSG633371;stSG633372;stSG633373;stSG633374;stSG633375;stSG633376;stSG633377;stSG633379;stSG633380;stSG633381;stSG633382;stSG633383;stSG633384;stSG633385;stSG633386;stSG633387;stSG633388;stSG633389;stSG633390;stSG633391;stSG633392;stSG633393;stSG633394;stSG633395;stSG633396;stSG633397;stSG633400;stSG633401;stSG633402;stSG633403;stSG633404;stSG633405;stSG633406;stSG633407;stSG633408;stSG633409;stSG633410;stSG633411;stSG633412;stSG633413;stSG633414;stSG633415;stSG633416;stSG633417;stSG633418;stSG633419 CXorf3;THO2;dJ506G2.1;hTREX120 OTTHUMP00000023972;OTTHUMP00000215584;THO complex subunit 2 APPROVED protein-coding ENSG00000125676 19073 02317 300395 REVIEWED 1318555 THOC1 THO complex 1 HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010] 18 18 p11.32 204520 258059 - 214520 268059 - 6480464;6907045 7525595;18469354;17699767;17638875;17081983;16344560;15998806;15870275;15489334;15358532;15302935;14962675;14702039;12477932;11979277;8125298;21693764;21890473;22144908;22178446;10512864;15833825;17190602;18974867;20237496;18029348;20351715;19454010;21329510;22939629;19471022;22952718 9984 J3KRD7;J3KT14;J3QQZ3;Q96FV9;R4GMN4;R4GN58 ABBA01049809;ABBA01049810;AK055354;AK123530;AK225067;AK225709;AK314755;AMYH01008769;AP000845;AY573302;AY573303;BC010381;CH471113;DA902294;L36529;NM_005131 AAA53571;AAH10381;AAT81408;AAT81409;ABM83694;ABW03548;BAG37293;EAX01731;EAX01732;EAX01733;EAX01734;NP_005122;Q96FV9 Hs.712543 1730751;1732029;1732033;1775114;2108961;2135013;2159676 D18S100;D18S550;D18S552;RH17645;RH47243;SHGC-30016;THOC1_9027 HPR1;P84;P84N5 THO complex subunit 1;hTREX84;nuclear matrix protein p84;tho1 APPROVED protein-coding ENSG00000079134 19070 09498 606930 VALIDATED 1323248 THOC3 THO complex 3 This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013] 5 5 5 q35.2 122313128 122314601 + 175319140 175328151 - 175386534 175395545 - 1580863;6480464;6907045 15998806;15489334;12477932;11979277;15833825;17190602;18974867;19615732;22990118;22939629;21988832;22178508;23000965;23222130;21900206;22118674;22178446;21139048;21890473;21906983;21907836;21628590;22505724 84321 D6REC9;D6RGZ2;H0Y9T1;H0YA11;H0YAG7;H0YAJ0;H7C0C5;Q6NZ53;Q96J01 ABBA01146528;ABBA01198259;AC138965;AMYH01015842;AW511349;AW628745;BC006849;BC066325;BC068499;BG502664;BU634063;BU781626;CH878413;HY009859;NM_032361 AAH06849;AAH66325;AAH68499;EAW50534;NP_115737;Q96J01 Hs.484227;Hs.535769;Hs.715943 1670375 RH10989 MGC5469;TEX1;THO3;hTREX45 OTTHUMP00000161240;OTTHUMP00000223280;TEX1 homolog;THO complex subunit 3;hTREX45;tho3 APPROVED protein-coding ENSG00000051596 19072 09497 606929 REVIEWED 1602206 THOC7 THO complex 7 homolog (Drosophila) 3 3 3 p14.1 63836307 63866361 - 63794586 63824637 - 63819546 63849597 - 6480464 19059247;12951069;12584197;12477932;9921901;8125298;16169070;15833825;15998806;17190602;18974867;20379614;17207965;22939629;18029348;21139048;21890473;22505724 80145 F8WCA6;F8WF22;H7C5E3;Q6I9Y2 ABBA01024315;AC104162;AF104914;AI391685;AI784549;AK027098;AK225110;AMYH01013247;BC020599;BC065012;CH471055;CR457373;NM_025075 AAH20599;AAH65012;ADQ32597;BAB15656;CAG33654;EAW65418;EAW65419;EAW65420;EAW65421;NP_079351;Q6I9Y2 Hs.288151 1653081;1848744;1848746 A005L33;G20315;SHGC-77029 FLJ23445;NIF3L1BP1;fSAP24 NIF3L1-binding protein 1;Ngg1 interacting factor 3 like 1 binding protein 1;OTTHUMP00000213415;THO complex subunit 7 homolog;functional spliceosome-associated protein 24;hTREX30;ngg1-interacting factor 3-like protein 1-binding protein 1 protein-coding ENSG00000163634 29874 17632 611965 VALIDATED 2881505 THRAP3P1 thyroid hormone receptor associated protein 3 pseudogene 1 3 3 3 p24.1 31431540 31434591 + 31383169 31472390 + 31494332 31497383 + 20041166 391524 ABBA01024955;AC099540;AC115283;AMYH01013055;NG_021114 1657811;1765959;2125493;2184407 RH36506;SHGC-149354;SHGC-74597;SHGC-76795 THRAP3L pseudo 32386 INFERRED 1601739 THOC6 THO complex 6 homolog (Drosophila) 16 16 16 p13.3 3279588 3283311 + 3014094 3017752 + 3074032 3077756 + 6480464 15489334;12477932;19913121;20628086;15833825;15998806;17190602;18974867;19773279;22939629;19322201;17623298;21139048;21890473;21906983;22174317 79228 Q86W42 ABBA01026726;AC108134;AK075330;AK308960;AK310113;AK314086;AL832548;AMYH01007088;BC003118;BC050674;BG613317;BM457458;CH471112;NM_001142350;NM_024339 AAH03118;AAH50674;BAC11552;BAG36782;EAW85421;EAW85422;EAW85423;NP_001135822;NP_077315;Q86W42 Hs.412304 2109379;2117908;2129131;2142712 HCFC1R1_8058;RH41886;RH67838;STS-T56712 MGC2655;WDR58;fSAP35 THO complex subunit 6 homolog;WD repeat domain 58;WD repeat-containing protein 58;functional spliceosome-associated protein 35 protein-coding ENSG00000131652 28369 14504 VALIDATED 7174939 THRB-AS1 THRB antisense RNA 1 3 p24.2 24535578 24541502 + 644990 ABBA01025027;ABBA01025028;AC012087;AK130231;AMYH01013033;NR_046244 Hs.631912 1668438 FB21H8 miscrna 44515 VALIDATED 6481105 THRB-IT1 THRB intronic transcript 1 (non-protein coding) 100874274 AC112217 miscrna 41390 1349222 THOC5 THO complex 5 22 22 q12.2 28234156 28279736 - 29904156 29949736 - 2317225;2317224;6480464 16959974;20051105 19165146;19059247;19015024;18373705;17081983;15489334;15461802;15221008;14702039;12477932;11979277;10597251;10231032;8889548;8242058;8125298;16009131;15833825;15998806;17190602;18974867;20009918;18029348;15146197;22990118;22939629;21937706;21628590;22113938;22365833;23032722 8563 C9JCL9;C9JXG5;C9JXU6;F5GZF3;F8WCP5;F8WES8;H7C072;H7C441;Q13769 AB023200;ABBA01055265;ABBA01055266;AC005529;AJ006069;AK025385;AK098709;AK122673;AK225169;AK225752;AMYH01012695;AMYH01012696;AMYH01012697;BC003615;BQ184247;BU187531;BX381026;BX400943;BX404329;CH471095;CN387648;CR456542;L18972;NM_001002877;NM_001002878;NM_001002879;NM_003678 AAC26837;AAH03615;BAA76827;CAA06841;CAG30428;CAK54573;CAK54872;EAW59808;EAW59811;EAW59812;NP_001002877;NP_001002878;NP_001002879;NP_003669;Q13769 Hs.75361 1664220;1689654;1733258;2125516;2182348;2191091;5014051;5022200;5037552 D22S634;D8S2278;D8S2279;L18426;MARC_14497-14498:1010607893:1;RH17626;RH178;SHGC-30081;WI-15873 C22orf19;Fmip;PK1.3;fSAP79 Fms-interacting protein;NF2/meningioma region protein pK1.3;OTTHUMP00000199690;OTTHUMP00000199692;PP39.2;THO complex subunit 5 homolog;functional spliceosome-associated protein 79;hTREX90;placental protein 39.2 protein-coding ENSG00000100296 19074 16650 612733 VALIDATED 1351706 THPO thrombopoietin Megakaryocytopoiesis is the cellular development process that leads to platelet production. The protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternate splicing results in multiple transcript variants of this gene.[provided by RefSeq, Jun 2012] 3 3 q27 185572467 185578626 - 184089773 184095932 - 730050;1580082;1580083;1580086;1580087;1580088;1580089;1580090;1580091;1580092;1601655;1601656;1580863;6480464;7240710 11776309;9794189;9425899;12468916;12487786;12041668;11960394;12187073;11860444;10583217;9694695;10822072 8202159;18753991;18617523;18473128;18433726;18367486;18090929;18061247;18006466;17827152;17763151;17706203;17637498;17468237;17379761;17158158;16888093;16759877;16454716;16359773;16317100;16305336;15863506;15781331;15705785;15647951;15572213;15307100;15282677;15254242;15239259;14995067;14966463;14769915;14689068;14670916;12879435;12829024;12799280;12799278;12581491;12495897;12477932;12430879;12389630;12381927;12359731;22577249;12135673;11983110;11961237;11913997;11847009;11756417;11750880;11257273;11012214;10387974;9766811;8942648;8537317;8202160;8202154;8020099;7926023;7849319;7822271;7809166;19913121;20628086;20673868;11877062;19553636;19578796;19630807;20237496;20452482;19810087;22453305;20467749;21262827;21304100;22327824;22698803;22284746;22194398;22686250;21988832;22980223;22139419 7066 F8W6L1;P40225;Q5FBX8 AB014681;AB014682;AB014683;AB102890;AB102892;AB102894;ABBA01058445;AC078797;AK311002;AMYH01013718;BC130322;BC136338;BC143982;BX108191;CH471052;D32046;D32047;L33410;L36051;L36052;NG_012136;NM_000460;NM_001177597;NM_001177598;S76771;U11025;U17071;U42977;U59493;U59494;U59495 AAA50553;AAA59857;AAA74083;AAB03392;AAB03393;AAB03394;AAB33390;AAC37566;AAC37568;AAI30323;AAI36339;AAI43983;BAA06807;BAA21930;BAA34930;BAA34931;BAA34932;BAD89419;BAD89421;BAD89423;EAW78243;EAW78244;EAW78245;NP_000451;NP_001171068;NP_001171069;P40225 Hs.1166;Hs.734657 1722403;1773047;1796940 D3S4165;G60274;THPO_1099 MGC163194;MGDF;MKCSF;ML;MPLLG;THCYT1;TPO MPL ligand;OTTHUMP00000210502;OTTHUMP00000210503;OTTHUMP00000210504;c-mpl ligand;megakaryocyte colony-stimulating factor;megakaryocyte growth and development factor;megakaryocyte stimulating factor;myeloproliferative leukemia virus oncogene ligand;thrombopoietin;thrombopoietin nirs variant 1 APPROVED protein-coding ENSG00000090534 11795 02500 187950;600044 REVIEWED 1351777 THSD1P1 thrombospondin, type I, domain containing 1 pseudogene 1 13 13 13 q14.3 33790491 33817246 - 51639848 51666603 - 52741854 52742456 - 6480464 374500 ABBA01051059;AL139082;AMYH01005119;NG_032770 1646812;1656615;1702606;2111692;2123730;2151435 A008Q48;D13S1607;D13S750;DXS8003;RH66294;STS-AA035456 THSD1P APPROVED pseudo 31375 INFERRED 68460 THOP1 thimet oligopeptidase 1 19 19 p13.3 2736506 2764599 + 2785506 2813599 + 1580863;6480464;6907045 7639763;15231747;19282285;18571100;17251185;15489334;15376229;15328361;15057824;14998993;14702039;12648459;12502762;12477932;11479311;10993116;10969067;10541437;10504294;10415366;9790774;8824811;8373360;8286339;19614740;21151101;22863883;22939629;21139048;21890473;21906983;22053931;22796113 7064 B3KSE2;K7EIK4;K7EKB6;K7EL02;K7EL32;K7EMU4;K7EP46;P52888 ABBA01002769;AC006538;AK093392;AK300552;AMYH01009291;BC000135;BC000583;BC002391;BC013878;BC067281;CH471139;HB965591;HD023001;NM_003249;U29366;Z50115 AAA82607;AAD13118;AAH00135;AAH00583;AAH02391;AAH13878;ABW03685;BAG52704;BAG62258;CAA90477;CBG17384;CBV30826;EAW69364;EAW69365;NP_003240;P52888 Hs.78769 2171687 WI-14088 EP24.15;MEPD_HUMAN;MP78;TOP endopeptidase 24.15;thimet oligopeptidase protein-coding ENSG00000172009 11793 03072 601117 PROVISIONAL 736295 THRA thyroid hormone receptor, alpha The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 17 17 q11.2 35472589 35503646 + 38218446 38250120 + 1580113;1580114;1580116;1580863;2315096;2314321;2315097;6480464 11889175;10022432;6589608;12082618;17389455;11756220 18655026;18467449;17911173;17577579;17560756;17220280;17065567;16781732;15802373;15767343;15757863;15674337;15489334;15388935;15249124;14729678;14614212;14576168;12878587;12874288;12871948;12805224;12477932;12388540;12371907;12231529;12048199;11861164;11726557;11266503;10902817;10610177;10567404;10508171;10480874;10235266;10207062;10198638;9717844;9680361;9653119;9628876;9627117;9440806;9268132;9267036;9115274;8710870;18562675;8616895;8537364;8127707;8036737;7776974;7609079;7566127;6323162;3684612;3672126;3458521;3357890;2710139;2539258;2464749;1850510;1537303;1517709;1331778;1307263;10847592;18052923;10866662;16799563;8806651;2879242;19519176;19453261;19427062;19422879;19144825;18844476;18641393;11713274;10490654;9256431;1314167;9626662;11641275;8650544;10903152;10965896;15808511;19926848;20534741;20724312;11158331;11889044;15140878;15604093;19158403;19360007;19628582;19730683;19819978;19853653;19903799;20053725;20231357;2879243;8524305;11117530;20141582;20211142;20691434;20736347;12138181;21075170;10037764;10379889;10409738;10733574;10744685;10877839;15130509;15131262;9415406;9804773;9849963;17620012;21529443;17242407;21508093;21389087;21622534;17641689;21654857;21868449;21997736;22224817;15941852;15466465;16219912;21988832;9405624;22930759 7067 J3KTF3;J3QR26;J3QRA9;J3QRW5;P10827;Q6FH41 AB209346;AB307686;ABBA01031845;ABBA01031846;ABBA01031847;AC068669;AC102799;AF522368;AK290071;AK290530;AK311344;AMYH01008378;AMYH01008379;AMYH01008380;BC000261;BC002728;BC008851;BC035137;BQ224043;CH471152;CR541915;HQ692859;J03239;M24748;M24899;M24900;NG_023345;NM_001190918;NM_001190919;NM_003250;NM_199334;X55005;X55074;Y00479 AAA35783;AAA52333;AAA52334;AAA61176;AAA66021;AAH00261;AAH02728;AAH08851;AAH35137;AAM77692;ABM83438;ABM86652;ADZ17370;BAD92583;BAF82760;BAF83219;BAH02277;CAA38749;CAA38899;CAA68539;CAB57886;CAG46713;EAW60632;EAW60633;EAW60634;NP_001177847;NP_001177848;NP_003241;NP_955366;P10827 Hs.724 1730331;1741385;1742293;1780412;1783582;1783600;1794882;1797912;1798274;2117650;2130568;2137191;2160791;2180246;2191537;2191711;5016614;5492170;5494073 AW259572;D10S2160;D17S1644E;D17S1979;D17S2189;GDB:180966;GDB:188665;GDB:196130;MARC_26124-26125:1030369359:1;MARC_5497-5498:996690469:1;NR1D1_2626;PMC64989P2;PMC87157P2;RH110;RH125185;SHGC-155386;SHGC-156300;THRA;THRA_2263 AR7;CHNG6;EAR7;ERB-T-1;ERBA;ERBA1;MGC000261;MGC43240;NR1A1;THRA1;THRA2;c-ERBA-1 EAR-7;ERBA-related 7;OTTHUMP00000164469;OTTHUMP00000164470;V-erbA-related protein 7;avian erythroblastic leukemia viral (v-erb-a) oncogene homolog;c-erbA-alpha;nuclear receptor subfamily 1 group A member 1;thyroid hormone receptor alpha;thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian);thyroid normone nuclear receptor alpha variant 1;triiodothyronine receptor APPROVED protein-coding ENSG00000126351 11796 07185 190120;614450 REVIEWED 734265 THRSP thyroid hormone responsive The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008] 11 11 q14.1 77452555 77457045 + 77774907 77779403 + 1580863;6480464 18299245;9003802;17418816;15489334;12960053;12477932;9777755;9618526;9389499;9371405;9186528;9027365;19913121;20628086;16712791;15342556;21821901;18029348 7069 Q92748 ABBA01017414;AI480357;AI749106;AK311975;AMYH01003825;AP003032;BC031989;BG674197;BP317892;CB122257;CH471076;NM_003251;Y08409 AAH31989;ABZ92543;BAG34914;CAA69685;EAW75045;NP_003242;Q92748 Hs.591969 1719707;1782582;1793508;1793510;1846785;2145248;2160650;5017621 D11S2232E;D11S4683;PMC22712P1;PMC22712P2;RH12275;RH123542;SHGC-112422;THRSP LPGP1;Lpgp;MGC21659;S14;SPOT14;THRP OTTHUMP00000233866;SPOT14 homolog;lipogenic protein 1;spot 14 protein;thyroid hormone responsive (SPOT14 homolog, rat);thyroid hormone responsive SPOT14;thyroid hormone responsive protein;thyroid hormone-inducible hepatic protein APPROVED protein-coding ENSG00000151365 11800 03566 601926 REVIEWED 1315930 THSD1 thrombospondin, type I, domain containing 1 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009] 13 13 13 q14.3 34016568 34045895 + 51849303 51878321 - 52951302 52980629 - 1580863;6480464 18403638;17047544;15489334;15371459;15057823;14702039;12975309;12477932;22664866;7687569;18029348 55901 B3KTY7;F5H419;Q9NS62 AB044385;ABBA01006539;ABBA01006540;AK096289;AK298974;AK315087;AL359513;AMYH01005122;AY358149;BC063842;CA446845;CH471274;NM_018676;NM_199263 AAH63842;AAQ88516;BAA96553;BAG37552;BAG53249;BAG61068;EAW55891;EAW55892;EAW55893;EAW55894;EAW55896;NP_061146;NP_954872;Q9NS62 Hs.325667 1656615;5015881;5016478;5022200;5037552 D8S2279;GDB:335751;GDB:434012;L18426;RH66294 MGC74971;TMTSP;UNQ3010 4833423O18Rik;OTTHUMP00000018448;OTTHUMP00000178678;thrombospondin type-1 domain-containing protein 1;thrombospondin, type I, domain 1;transmembrane molecule with thrombospondin module APPROVED protein-coding ENSG00000136114 17754 18180 REVIEWED 1314565 THRAP3 thyroid hormone receptor associated protein 3 1 1 1 p34.3 34964545 35046052 + 36462634 36542744 + 36690017 36770958 + 1580863;6480464 10198638;10235266;17353931;12218053;12037571;10235267;17081983;16964243;16710414;16565220;15489334;22424773;21145461;15324660;15302935;15144186;14559993;12477932;12130544;11827452;8710870;17403666;11867769;18029348;9653119;18794151;16055720;16204234;22939629;23084401;23184937;20811636;16196087;19928837;18781797;19596686;20360068;12938929;19471022;21139048;21693764;21890473;21906983;17620599;21628590;18596238;21182205;22990118;20016921;22190034;22944692 9967 E9PML1;Q9Y2W1 ABBA01023303;ABBA01023304;ABBA01023305;ABBA01023306;ABBA01023307;ABBA01023308;AC114484;AF117756;AI754117;AK025735;AL360074;AL591845;AMYH01000494;BC002501;BC010997;BC019076;BC037554;BC054046;BC065519;BC112330;BC112350;BG572651;CH471059;FB342987;FB711110;NM_005119 AAD22034;AAH02501;AAH10997;AAH19076;AAH37554;AAH54046;AAH65519;AAI12331;AAI12351;ABZ92284;CAR81494;CAS91510;EAX07379;EAX07380;NP_005110;Q9Y2W1 Hs.744057 1657811;1666584;1672452;1761611;2172127;2184407;2190871;5115407 MARC_10111-10112:996678899:1;RH16411;RH36506;RH68220;SHGC-145602;SHGC-74577;SHGC-74589;SHGC-74597 FLJ22082;MGC133082;MGC133083;TRAP150 OTTHUMP00000009597;OTTHUMP00000230679;thyroid hormone receptor-associated protein 3;thyroid hormone receptor-associated protein complex 150 kDa component;thyroid hormone receptor-associated protein, 150 kDa subunit protein-coding ENSG00000054118 22964 07543 603809 VALIDATED 1605622 THSD4 thrombospondin, type I, domain containing 4 15 15 15 q23 48324642 48962070 + 69220842 69862776 + 71433788 72075722 + 6480464 18519826;22837378;19240061;18488137;14702039;12975309;12477932;19734141;20010834;20379614;19940141;21880733;21965014;23284291 79875 B4DR13;Q6ZMP0 ABBA01038741;ABBA01038742;ABBA01038743;ABBA01038744;ABBA01038745;ABBA01038746;ABBA01038747;ABBA01038748;ABBA01038749;AC015711;AC026636;AC064799;AC068181;AC104938;AC104943;AC105132;AC108861;AK023772;AK130734;AK131551;AK299056;AK303870;AMYH01006750;AMYH01006751;AMYH01006752;AMYH01006753;AMYH01006754;AMYH01006755;AY358143;BC140868;BX641106;BX648716;BX648747;CH471082;NM_024817 AAI40869;AAQ88510;BAB14673;BAD18685;BAG61125;BAG64808;CAE46049;EAW77873;EAW77874;EAW77875;NP_079093;Q6ZMP0 Hs.387057 1334543;1645125;1645882;1649317;1662058;1667016;1673465;1690512;1704766;1706450;1715557;1715957;1720249;1721597;1722823;1750471;1751515;1752341;1757511;1761659;1774081;1780254;1783266;1783268;1790273;2127201;2176184;5106387;5115154;5491575 AFMA240WG1;D15S1050;D15S1241;D15S1268;G17862;G59808;G60353;KS152;MARC_21620-21621:1033068940:1;RH120920;RH122721;RH123873;RH44673;RH44717;RH46217;RH48644;RH94031;SHGC-105319;SHGC-106265;SHGC-111775;SHGC-144885;SHGC-145643;SHGC-154809;SHGC-155970;SHGC-155971;SHGC-33724;SHGC-79667;SHGC-80810;WI-14916;WI-18330 ADAMTSL-6;ADAMTSL6;FLJ13710;FVSY9334;PRO34005 A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6;ADAMTS-like protein 6;OTTHUMP00000164570;OTTHUMP00000164580;thrombospondin type-1 domain-containing protein 4 protein-coding ENSG00000187720 25835 07835 614476 PROVISIONAL 2947545 THUMPD1P1 THUMP domain containing 1 pseudogene 1 21 21 21 q21.3 15456837 15458818 - 29195972 29198389 - 30274104 30276085 - 391276 ABBA01057245;AF227510;AMYH01012186;NG_021991 1779726 SHGC-153697 pseudo 23808 INFERRED 734423 THRB thyroid hormone receptor, beta The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] 3 3 p24.2 24134709 24511317 - 24158644 24536313 - 1601659;1580863;2314321;2315095;2315096;2289906;2315099;2315100;2315097;2315977;6480464;7240710 15913586;17389455;18336598;12082618;9462708;11483913;2573734;11756220;20082849 22560525;7870181;15100213;15625236;1618799;19524130;19453261;19439650;19422879;19378427;19299458;19268523;19211732;19160403;19000767;18844476;18798561;18683837;18660489;18561095;18514160;18467449;18363280;18239067;17911173;17827792;17596672;17560756;17418816;17293442;17260956;17177139;16781732;16344560;16231318;16099238;15987841;15886199;15867011;15674337;15598685;15489334;15342556;15319359;15249124;15186611;15105435;15080770;14985366;14767065;14761960;14702039;14684607;14673100;12843201;12788902;12668276;12554782;12477932;12382103;12048199;12039952;12006711;11971969;11929097;11889175;11861164;11818500;11751919;11739747;11518802;11258898;10944117;10866662;10822129;10786636;10737800;10713182;10660344;10625678;10567404;10508171;10454579;10207062;9795230;9794455;9765220;9751500;9717844;9368056;9325263;9267036;9171239;8889584;8664910;8514853;8381821;8175986;7833659;7776974;7746322;3034496;2879243;2550353;2510172;2254444;2153155;1973914;1846005;1661299;1657975;1653889;1648451;9405624;1619012;1587388;1563081;1517709;1425440;1324420;1314846;9878542;11733490;11773444;11158331;10823961;10508170;11050077;10809664;15308690;10454563;9346901;20470753;20956942;20155399;20736347;19913121;19926848;20628086;20634891;20677014;11353774;12799135;15336696;15604093;16464943;16778766;19407221;19628582;19853653;19903799;19903885;20004952;20379614;20444926;20716560;20141582;20691260;20691434;20139978;21159845;8040303;20838640;20827662;17455211;21110296;21402532;9415406;21323586;17242407;21508093;21530542;22551329;21389087;21622532;21622534;21740842;21871106;21988832;9920895;21703645;22319036;22253701;21994129;11279242;23136537;15466465;23222517;21795843;22930759;22974658;23183175 7068 C9JHC2;C9JJM3;C9JNQ4;C9JTN1;C9JZS5;F1D8N7;J3KR21;P10828 AB307687;ABBA01025028;ABBA01025029;ABBA01025030;ABBA01025031;ABBA01025032;AC012087;AC093927;AC098971;AC099054;AC112217;AI003028;AK095776;AK096628;AK096885;AK098084;AK124042;AMYH01013030;AMYH01013031;AMYH01013032;AMYH01013033;AV747599;AW449568;AY286465;AY286466;AY286467;AY286468;AY286469;AY286470;AY286471;BC028910;BC106929;BC106930;BF854291;BP313943;BQ879477;BX489919;CH471055;DA218319;GQ456948;GQ456949;GQ869477;GQ869479;GQ919288;HQ692825;M26747;NG_009159;NM_000461;NM_001128176;NM_001128177;NM_001252634;X04707;X74497 AAA35677;AAI06930;AAI06931;AAQ23704;AAQ23705;AAQ23706;AAQ23707;AAQ23708;AAQ23709;AAQ23710;ABZ92193;ADK27482;ADZ17336;BAG53341;BAH02278;CAA28412;CAA52606;EAW64345;EAW64346;EAW64347;EAW64348;EAW64349;EAW64350;NP_000452;NP_001121648;NP_001121649;NP_001239563;P10828 Hs.187861 1661436;1663954;1664505;1668438;1705316;1712669;1713173;1713519;1717757;1741303;1741305;1741307;1741311;1741467;1741817;1742481;1768854;2118715;2127167;2167279;2171635;2178688;2184184;2218092;5015961 D15S1477;FB21H8;G16616;GDB:180388;GDB:180393;GDB:180395;GDB:180402;GDB:181230;GDB:185252;GDB:197523;RH120244;RH120373;RH121786;RH121999;RH16276;RH78157;SGC34912;SHGC-76775;SHGC-76780;SHGC-76782;SHGC-76783;SHGC-78620;STS-X74497;THRB_2730;WI-18322 C-ERBA-2;C-ERBA-BETA;ERBA-BETA;ERBA2;GRTH;MGC126109;MGC126110;NR1A2;PRTH;THR1;THRB1;THRB2 OTTHUMP00000161044;OTTHUMP00000208475;OTTHUMP00000208531;avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2;c-erbA-2;c-erbA-beta;nuclear receptor subfamily 1 group A member 2;oncogene ERBA2;thyroid hormone nuclear receptor beta variant 1;thyroid hormone receptor beta;thyroid hormone receptor beta 1;thyroid hormone receptor beta isoform;thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) APPROVED protein-coding ENSG00000151090 11799 07521 145650;188570;190160;274300 REVIEWED 1602056 THSD7A thrombospondin, type I, domain containing 7A The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] 7 7 7 p21.3 11384846 11846544 - 11380695 11838349 - 11410062 11871824 - 6480464 12477932;18488137;14702039;12168954;10231032;7566098;20020485;20379614;20414141;20808825;22145905;22194972;12421765;15231748;22889924;23303384 221981 Q9UPZ6 AA297188;AA995609;AACC02000009;AB023177;ABBA01056561;ABBA01056562;ABBA01056563;ABBA01056564;AC004141;AC004160;AC004614;AC010908;AC073109;AK001884;AK092252;AMYH01017074;BC016980;BC030083;BF111945;CH236948;NG_027670;NM_015204 BAA76804;NP_056019;Q9UPZ6 Hs.120855 1298140;1647216;1650378;1655137;1664030;1667007;1672452;1691502;1691510;1704898;1706532;1722497;1776285;2119026;2125947;2130935;2155165;2164539;2180345;2184466;7186371 AFM217yc5;D7S1907;D7S1926;D7S513;G42148;G42152;G60172;RH16411;RH36535;RH68696;RH70094;SHGC-24260;SHGC-55960;SHGC-55964;SHGC-55965;SHGC-55969;SHGC-79924;SHGC-81239;STS-N22309;STS-R79793 KIAA0960 OTTHUMP00000201531;thrombospondin type-1 domain-containing protein 7A APPROVED protein-coding 22207 612249 REVIEWED 1606777 THSD7B thrombospondin, type I, domain containing 7B 2 2 2 q22.1 131462164 132148761 + 137464932 138151757 + 137748462 138435287 + 6480464 15815621;12477932;11214970;20379614;20686608;21703634;12421765;22589738;23144319 80731 C9JKN6;E7EM75;F5H5I9;Q9C0I4;R4GMU2 AB051466;ABBA01028136;ABBA01028137;ABBA01028138;ABBA01028139;ABBA01028140;ABBA01028141;ABBA01028142;AC011231;AC012000;AC016679;AC017082;AC019067;AK299929;AMYH01011126;AMYH01011127;AMYH01011128;AMYH01011129;BC019344;BC033125;NM_001080427 AAH19344;AAH33125;BAB21770;BAG61762;NP_001073896;Q9C0I4 Hs.68533 1336265;1338767;1687806;1696588;1704866;1707812;1724567;1724671;1752921;1757541;1761423;2116858;2167706;5020381 D2S2288;D2S2385;D2S2678;D2S2682;D2S2792;RH121338;RH122543;RH93181;SHGC-106811;SHGC-144972;SHGC-145431;SHGC-78814;SHGC-79907;SHGC-82132 KIAA1679 OTTHUMP00000204182;thrombospondin type-1 domain-containing protein 7B protein-coding ENSG00000144229 29348 PROVISIONAL 1348857 THUMPD3 THUMP domain containing 3 3 3 3 p25.3 9339426 9363176 + 9379736 9402412 + 9404717 9428475 + 737633;1580863;6480464 12477932 15231747;16344560;15489334;14702039;22863883;22939629;21139048;21890473;22505724 25917 C9J9V2;C9JP31;H7C0R6;H7C3J3;Q9BV44 ABBA01020411;AC018506;AC026191;AK001680;AK023263;AL080228;AL117483;AMYH01012963;BC001622;BC010421;CH471055;DA713744;NM_001114092;NM_015453 AAH01622;AAH10421;BAA91832;BAB14495;CAB55956;EAW63954;EAW63955;EAW63956;EAW63957;EAW63958;EAW63959;NP_001107564;NP_056268;Q9BV44 Hs.443081 1654539;1687281;1768223;1777896;2112632;2112754 D3S4378;D3S4444;RH65968;RH92484;SHGC-76683;SHGC-76693 DKFZp434F091 OTTHUMP00000122526;OTTHUMP00000207149;OTTHUMP00000207150;THUMP domain-containing protein 3 protein-coding ENSG00000134077 24493 15507 VALIDATED 1315745 THUMPD2 THUMP domain containing 2 2 2 2 p22.1 39804157 39847379 - 39816949 39859881 - 39963200 40006416 - 1580863;6480464 18957941;15489334;14702039;12477932;12063391;8125298;22939629;21906983 80745 D6W593;E7EUG5;H0YE26;H7C5V1;Q969Z2;Q9BTF0 ABBA01075036;ABBA01075037;AC007246;AC007253;AF380576;AF380577;AF380578;AF380579;AK057801;AK093580;AK226034;AK292002;AK298178;AK301353;AK307754;AL832115;AMYH01010276;BC004163;BC013299;CH471053;DC379776;HH961786;NM_025264;NR_028102 AAH04163;AAH13299;AAL18604;AAL18605;AAL18606;AAL26317;AAL26318;AAX93065;AAY14769;ACE86471;ACE87152;BAB71581;BAF84691;BAG52741;BAG60449;BAG62898;CBX51366;EAX00339;EAX00340;EAX00341;EAX00342;NP_079540;Q9BTF0 Hs.468254 1726541;1750195;2122752;2122844;2154540;2183980;5015861;7185938 D10S16;D11S2268E;D2S2923;G62651;RH78734;SHGC-112290;WI-18232 C2orf8;MGC2454 OTTHUMP00000128342;SAM-dependent methyltransferase;THUMP domain-containing protein 2 protein-coding ENSG00000138050 14890 15506 611751 VALIDATED 1344933 THTPA thiamine triphosphatase This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] 14 14 14 q11.2 3887868 3891457 + 23095071 23098592 + 23980969 24028790 + 1580863;6480464;6907045 11827967;17213182;16344560;15489334;15342556;15109578;14702039;12508121;12477932;18029348;3060175;22939629;12943234;20387656;8889548;21139048;21890473;22053931 79178 G3V5B9;G3V5Q5;H0YJU8;Q9BU02 ABBA01061321;ABBA01061322;AF432862;AK057691;AK090747;AK094211;AK098604;AL132855;AL135999;AMYH01005604;BC002984;BI488427;BI522644;BI836092;BM673249;BM925597;BP358780;BQ182954;BU535676;BX161435;BX378775;CB054399;CH471078;DA218228;DA952722;DB044416;DB122722;DB257923;DT220066;NM_001126339;NM_001256062;NM_001256321;NM_001256322;NM_001256323;NM_024328;NR_023314;NR_046051;NR_046052 AAH02984;AAM22403;BAB71546;CAD61907;EAW66140;EAW66141;NP_001119811;NP_001242991;NP_001243250;NP_001243251;NP_001243252;NP_077304;Q9BU02 Hs.655179;Hs.732304;Hs.736905 1675005;2120685;2123605;2125461;2140713;2150164;2219742;5015621 A005Y33;D11S3732;D14S671E;HSC22E052;RH44758;RH64872;SHGC-24169;THTPA__5257 FLJ33428;FLJ36892;MGC2652;THTP;THTPASE OTTHUMP00000246252;OTTHUMP00000246253;OTTHUMP00000246254;OTTHUMP00000246271;OTTHUMP00000246272;OTTHUMP00000246273;thiamine-triphosphatase APPROVED protein-coding ENSG00000259431 18987 15505 611612 REVIEWED 1318865 THUMPD1 THUMP domain containing 1 16 16 16 p12.3 20055205 20063419 - 20652487 20660700 - 20744986 20753199 - 6480464 17081983;15489334;14702039;12477932;10493829;22863883;22939629;21139048;21890473;22190034;22505724 55623 H3BNW0;J3KQB0;Q6MZT3;Q9NXG2 ABBA01028285;ABBA01028286;AC004381;AK000281;AK294328;AMYH01007345;BC000448;BX640898;CH471228;NM_017736 AAC31666;AAH00448;BAA91050;BAG57600;CAE45945;EAW66830;EAW66831;EAW66832;NP_060206;Q9NXG2 Hs.700004 1678909;1680635;1786150;2106725;2118414;2184375 RH35937;RH91275;SHGC-32909;SHGC-61359;SHGC-79168;THUMPD1__5258 DKFZp686C1054 OTTHUMP00000162296;THUMP domain-containing protein 1 protein-coding ENSG00000066654 23807 08619 VALIDATED 1313955 TIA1 TIA1 cytotoxic granule-associated RNA binding protein The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq, Jul 2008] 2 2 p13 70292318 70329251 - 70436576 70475779 - 1580863;6480464;7240710 15280467;1934064;12486009;19386911;19110540;18775331;18753794;18642007;18456862;18201561;17711853;17599736;17580305;17493234;17488725;17135269;16820934;16344560;16227602;16094384;15146197;14966131;14702039;12949814;12885872;12855701;12641788;12477932;11106748;10599307;8576255;8176212;7544399;2104899;17461779;21846467;20599318;18377426;19615357;19641607;20675271;20980400;21145461;21189287;21048981;21257637;23182705;21179245;21284605;19910486;22939629;21139048;22154808;20412057;19738201;22623428 7072 C9JTN7;E5RG67;E5RGV5;F8W8I6;F8WE16;H7BY49;P31483;Q96B58 AB209211;ABBA01075530;ABBA01075531;AC016700;AK093744;AK303345;AMYH01010425;BC015944;BM146739;CH471053;CN295707;CX867570;DB136383;DR157578;M77142;NG_029967;NM_022037;NM_022173;S70114 AAD14053;AAH15944;AAX93193;BAD92448;BAG64407;EAW99823;EAW99824;EAW99825;EAW99826;EAW99827;NP_071320;NP_071505;P31483 Hs.516075 1336393;1339656;1649339;1680309;1739011;1774393;1778195;2130851;2131284;2178118;2186211;5014873;7186797 D2S1873;D2S2113;D2S303;RH47301;RH48876;RH68286;RH81041;SHGC-32459;SHGC-58269;SHGC-64100;WI-11889;WI-21718 TIA-1;WDM OTTHUMP00000160046;OTTHUMP00000160047;OTTHUMP00000204010;OTTHUMP00000204044;RNA-binding protein TIA-1;T-cell-restricted intracellular antigen-1;TIA1 cytotoxic granule-associated RNA-binding protein;cytotoxic granule-associated RNA-binding protein;nucleolysin TIA-1 isoform p40;p40-TIA-1 (containing p15-TIA-1) APPROVED protein-coding ENSG00000116001 11802 04626 603518;604454 REVIEWED 735861 THY1 Thy-1 cell surface antigen 11 11 q23.3 118794098 118799064 - 119288655 119294246 - 1580863;5490154;6480464;6484113 18836575 15004192;7513706;11256614;2864289;15093746;19341705;19324083;19267366;18976167;18556592;18389476;18242515;17952444;17884967;17007050;16531284;16381901;16374458;16007174;15897908;15850796;15489336;15489334;15218185;15104276;14702039;14507638;12781446;12477932;12074634;11860231;11485909;11230166;11076863;10944468;10708443;8752941;7683034;7479964;6130472;3917857;2884261;2864690;1351058;1347022;19538887;19615261;17243294;19724880;19737398;19921696;20043075;20478055;20463011;20562849;17500595;22939629;22807289;23237599;23382045;22952721;21577212;21078624;21272924;21743497;22184726;22210915;21139048;14757759;22203689;16713569;23159525;22426060;19369333 7070 B0YJA4;E9PIE1;E9PIM6;E9PNQ8;J3QRJ3;P04216 AB209209;ABBA01039669;ABBA01039670;AF261093;AK057865;AK090644;AK090996;AK094374;AK314018;AL161958;AMYH01004084;AP003396;BC005175;BC037832;BC065559;BM504140;CH471065;EF445035;M11749;NM_006288;S59749 AAA61180;AAB26353;AAG13904;AAH65559;ABM85937;ABM85939;ABW03761;ACA06081;ACA06082;BAD92446;BAG36729;BAG52205;BAG52259;CAB82306;CAL37910;CAL38092;EAW67488;EAW67489;EAW67490;NP_006279;P04216 Hs.644697 1772722;1774348;1851655;2150753 RH11662;RH15909;SHGC-8027;THY1 CD90;FLJ33325 CDw90;OTTHUMP00000232162;OTTHUMP00000232164;OTTHUMP00000232167;OTTHUMP00000232168;Thy-1 T-cell antigen;thy-1 antigen;thy-1 membrane glycoprotein;thymus cell antigen 1, theta protein-coding 11801 01769;11283 188230 VALIDATED 1606014 THYN1 thymocyte nuclear protein 1 This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 q25 131291036 131296123 - 133623383 133628470 - 134118173 134123260 - 6480464 19505873;14601557;19237743;15939300;15489334;14580360;12477932;12384300;12107411;11042152;8889548;22939629;18029348;21139048 29087 Q9P016 ABBA01031114;AF059619;AF087886;AF161493;AF182413;AK308498;AK311024;AMYH01004146;AP000859;BC006978;BC093074;BQ640137;BQ959408;BU658940;BU685681;BU934600;CH471065;NM_001037304;NM_001037305;NM_014174;NM_199297;NM_199298 AAF29108;AAG14949;AAG43118;AAH06978;AAH93074;AAP97185;ADZ15759;EAW67828;EAW67829;EAW67830;EAW67831;EAW67832;NP_001032381;NP_001032382;NP_054893;NP_954994;NP_954995;Q9P016 Hs.13645 1671077;1683176 RH99116;SGC32443 HSPC144;MDS012;MGC12187;MY105;THY28;THY28KD OTTHUMP00000235417;OTTHUMP00000235418;OTTHUMP00000235419;OTTHUMP00000235420;thymocyte nuclear protein 1;thymocyte protein thy28 APPROVED protein-coding ENSG00000151500 29560 18183 613739 REVIEWED 1347074 TIAF1 TGFB1-induced anti-apoptotic factor 1 17 17 17 q11.2 24259897 24261985 - 24424665 24426753 - 27400539 27402627 - 1580863;6480464 9918798;17081983;15491607;15489334;14965474;14702039;14676191;12829915;12477932;10733938;9039502;18276110;21368882;22534828 9220 O95411 ABBA01015034;AC024619;AF105277;AK054958;AK126861;AMYH01008286;BC047669;BC058075;BC131561;CH471159;NM_004740 AAD04172;AAH47669;AAH58075;AAI31562;EAW51180;NP_004731;O95411 Hs.462590;Hs.743384 1681117;1682601;1690127;1736676;2108277 D17S1502E;MYO18A__7317;RH39291;RH67783;RH68312 MAJN;MYO18A;MYSPDZ;SPR210 12 kDa TGF-beta-1-induced antiapoptotic factor;OTTHUMP00000223459;TGF-beta-1-induced antiapoptotic factor 1;TGFB1-induced anti-apoptotic factor 1;molecule associated with Jak-3 N-terminal protein-coding 11803 10268 609517 VALIDATED 1345903 TIAM2 T-cell lymphoma invasion and metastasis 2 This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 6 6 6 q25.2 156145600 156313154 + 155453115 155620549 + 155411423 155578857 + 1580863;6480464 15342556;12477932;11900975;10512681;10364228;11756498;12376548;12787561;15723051;20379614;17043677;21900206;21469146 26230 B3KW11;E9PKT1;E9PMZ8;F5H1M3;F5H6R0;F5H6W6;F5H8H5;H0YGV1;H7C5V6;H7C602;Q8IVF5 ABBA01025584;AF120323;AF120324;AF195656;AK123859;AK125459;AK299723;AK302860;AL122086;AL139101;AL355343;AL596202;AMYH01016763;AMYH01016764;AMYH01016765;BC022469;BC066979;BC137275;BP199501;CH471051;NM_001010927;NM_012454 AAF03902;AAF05900;AAF05901;AAH66979;AAI37276;BAC86170;BAG53973;BAH13110;BAH13824;CAB59259;EAW47692;EAW47693;NP_001010927;NP_036586;Q8IVF5 Hs.586279 1339544;1668183;1688484;1688700;1706954;1759509;1786078;1846880;1998726;2118801;2171392;5494106;7186678 A004I02;D6S1577;D6S345E;G31560;REN70275;RH1528;RH79606;RH92066;SHGC-150796;SHGC-156051;SHGC-80974;fe36g08.x1 FLJ41865;STEF;TIAM-2 OTTHUMP00000017472;OTTHUMP00000231963;OTTHUMP00000231964;OTTHUMP00000231965;OTTHUMP00000231968;OTTHUMP00000238735;OTTHUMP00000238736;SIF and TIAM1-like exchange factor;T-lymphoma invasion and metastasis-inducing protein 2 APPROVED protein-coding ENSG00000146426 11806 05273 604709 REVIEWED 1603893 TICAM1 toll-like receptor adaptor molecule 1 This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. [provided by RefSeq, Jan 2012] 19 19 p13.3 4766992 4769451 - 4815936 4831754 - 5685014;6480464;6907045 21235323 8619474;15251447;22561518;12721283;12761501;12609980;12692549;12855817;14556004;15064760;19028691;18987746;18810425;18756281;18571728;18450748;17982077;16964262;16306936;16153868;16052631;15940673;15814722;15767257;15611223;15474016;14982987;14960149;14739303;14530355;14519765;14517278;12539043;12477932;12471095;9110174;20306472;20375303;20588308;10066798;15276183;16323247;16968706;19423540;19543401;19656901;19795416;20047764;20200155;20331378;20406964;20438785;20418377;20855887;20452988;16115877;21048031;15142865;21148036;20639876;21212282;21536801;21324962;19734906;21792053;18442983;22870331;21695056;21697485;22474023;21809339;21903422;21998457;21906983;22043923;22152804;21931545;22095710;22105173;22205631;22337809;23056470;22964479;21988832;23365087;22948160 148022 Q8IUC6 AB086380;AB093555;AB097023;AB446484;ABBA01056040;ABBA01056041;AC027319;AF070530;AF492646;AMYH01009346;BC009860;BC035331;BC136556;BC136557;BX349282;CA308725;CQ871232;DR000002;NG_031998;NM_182919 AAC28630;AAH09860;AAI36557;AAI36558;AAO85488;BAC44839;BAC55579;BAC77376;BAG55261;CAH56797;NP_891549;Q8IUC6 Hs.29344 1769326;2131985 SGC34257;STS-R73446 IIAE6;MGC35334;MyD88-3;PRVTIRB;TICAM-1;TRIF TIR domain containing adaptor inducing interferon-beta;TIR domain-containing adapter molecule 1;TIR domain-containing adapter protein inducing IFN-beta;TIR domain-containing adaptor molecule 1;proline-rich, vinculin and TIR domain-containing protein B;putative NF-kappa-B-activating protein 502H;toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta APPROVED protein-coding ENSG00000127666 18348 06350 607601;614850 REVIEWED 1317929 TICAM2 toll-like receptor adaptor molecule 2 TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004] 5 5 5 q23.1 110863614 110887385 - 114942247 114989610 - 114914339 114938176 - 1580863;5685014;6480464;6484113;6907045 21235323 12761501;12721283;15276183;20379614;14556004;19543401;19412184;18810425;18297073;17372010;16603631;16344560;14519765;14517278;12477932;10810093;9490301;20802145;16115877;17258210;18221795;22970235;21903422;22685567 353376 Q86XR7 AB002444;AB091054;AB097022;AB109098;AB446491;ABBA01069032;AC010226;AMYH01015563;AY232653;AY304582;BC109265;BC109266;BX956265;CA441688;CD638761;CH471086;DA899189;DA992598;NM_021649 AAI09266;AAI09267;AAO74498;AAQ97431;BAC77375;BAC98397;BAC98399;BAG55268;EAW48960;NP_067681;Q86XR7 Hs.744008 1643912;1722603;2113796;2218826 AB055258;G60385;TIRP__5265;WI-11806 MGC129876;MGC129877;MyD88-4;TICAM-2;TIRAP3;TIRP;TRAM NF-kappa-B-activating protein 502;OTTHUMP00000207407;TIR domain-containing adapter molecule 2;TIR-containing adapter molecule-2;TRIF-related adapter molecule;TRIF-related adaptor molecule;cytoplasmic adaptor;putative NF-kappa-B-activating protein 502;toll-like receptor adaptor protein 3;toll/interleukin-1 receptor (TIR) domain-containing adapter protein;toll/interleukin-1 receptor domain-containing protein APPROVED protein-coding ENSG00000243414 21354 16313 608321 VALIDATED 1602448 TICRR TOPBP1-interacting checkpoint and replication regulator Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010] 15 15 15 q26.1 66521348 66573839 + 87919822 87972258 + 90118818 90171254 + 6480464 15146197;12477932;20116089;20379614;20080954;21832049;21646402;21139048;21963094;20620901;21700459;21816347;22380713;23251661;23704573 90381 H0YN97;Q7Z2Z1 ABBA01053014;ABBA01053015;ABBA01053016;ABBA01053017;ABBA01053018;AC013391;AC013787;AK074727;AK123612;AK315750;AMYH01006915;AW627706;BC002881;BC033209;BX538335;CH471101;CN285632;CQ783631;DR731357;DR731358;GQ227787;NM_152259 AAH02881;AAH33209;ADC30133;BAC11165;BAG38104;BAG53921;CAD98102;CAF86784;EAX02056;NP_689472;Q7Z2Z1 Hs.441708 1684140;1697552;1794372;2107387;2112962 D15S1437E;MGC45866__7721;PMC311040P5;RH102284;RH99140 C15orf42;FLJ41618;MGC45866;SLD3;Treslin OTTHUMP00000194457;SLD3 homolog;topBP1-interacting checkpoint and replication regulator;topBP1-interacting replication-stimulating protein;topBP1-interacting, replication-stimulating protein;treslin APPROVED protein-coding ENSG00000140534 28704 11357 613298 VALIDATED 1351821 TIGD1L tigger transposable element derived 1-like p21.3 414771 AL137624 bCX111D4.7;bPG70P20.2;bQB10J12.1 protein-coding 28694 1316657 TIAM1 T-cell lymphoma invasion and metastasis 1 21 21 q22.11 31412607 31853161 - 32490736 32931290 - 1580863;6480464;6484113 17086355;10835422;19285946;19095647;19082465;18972435;18826597;18805958;18675922;18006851;17702746;17376711;17219408;17132223;17003780;16195373;16192287;15899863;15723052;15655826;15479739;15340013;15324660;15295645;15242348;14988728;14702039;12810717;12531897;12477932;12446731;12376551;12134164;12024021;11595749;11274357;11130063;10893266;10830953;10636882;10212259;9128250;8619474;8595894;7753201;7736788;7731688;15721239;22524833;22573407;17822624;11756498;12376548;12787561;17584632;19218104;19246286;19276682;19506399;19911011;20018857;20215110;20360004;20361982;20379614;20802514;20444703;20801718;19575901;20522449;16334253;20496116;20826792;21237486;21186404;19923095;20819206;21876037;21302295;22044751;22469921;23071154;22028615;15174051;17110338;17979178;23307871;21853342;22027789;23142282;23314748;23291131 7074 C9JMB5;F5GZ53;H7C079;Q13009 AB209101;ABBA01057280;ABBA01057281;ABBA01057282;ABBA01057283;ABBA01057284;ABBA01057285;ABBA01057286;ABBA01057287;ABBA01057288;AK093621;AK124647;AMYH01012193;AMYH01012194;AMYH01012195;AMYH01012196;AP000246;AP000247;AP000248;AP000249;AP000250;AP000251;AP000563;BC117192;BC117196;BC143970;BC143980;CH471079;HI179082;NM_003253;U16296;U90902;X86351 AAA98443;AAI17193;AAI17197;AAI43981;BAD92338;CBX53849;EAX09895;NP_003244;Q13009 Hs.517228 1331552;1340471;1340863;1653870;1676107;1705902;1718475;1719223;1720261;1730626;1730636;1734326;1759105;1759839;1759923;1759925;1767525;1855398;1856627;2107671;2129670;2135309;2139898;2147088;2185431;2185468;5015619;5037552;5095042;5121683 D11S3114;D21S1280;D21S1681;D21S1854;D21S1862;D21S1888;D21S1909;D21S2049;D21S305;D21S310;D8S2279;G34727;HSC1YE072;NIB1194;RH122439;RH123331;RH123879;RH48581;RH68783;SHGC-150949;SHGC-170078;SHGC-170314;SHGC-170316;SHGC-30615;SHGC-51891;SHGC-6822;SHGC-81220;SHGC-87547;TIAM1;TIAM1_7227 FLJ36302 OTTHUMP00000107263;T-lymphoma invasion and metastasis-inducing protein 1;TIAM-1;human T-lymphoma invasion and metastasis inducing TIAM1 protein protein-coding ENSG00000156299 11805 02820 600687 VALIDATED 1345557 TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1 The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008] 10 10 q 121322967 121346531 - 121332977 121356541 - 1580863;6480464 1326761;9207209;19110540;18456862;18201561;17869012;17682065;17512901;17488725;17486099;16890199;16581801;16537914;16243297;16191398;16091628;15592455;15514971;15304326;15280467;14736875;14702039;12917321;12855701;12533540;12477932;12426321;12414941;12356730;11514562;10700014;8576255;7533298;21145461;21189287;19805546;20980400;20675271;21048981;22939629;21139048;21890473;21906983;19738201;20932473;22623428;23000965;23667531 7073 A6NKZ9;E7ETC0;E7ETJ9;Q01085;Q49AS9 AA972022;AB209260;ABBA01062894;AC012468;AK125264;AK290695;AK290984;AK291239;AK295243;AL833106;AMYH01003115;AMYH01003116;AW129760;AY633610;BC030025;BC128140;BC128141;CH471066;D64015;M96954;NG_029240;NM_001033925;NM_003252 AAA36384;AAH30025;AAV33303;BAA21559;BAD92497;BAF83384;BAF83673;BAF83928;BAG58235;EAW49385;EAW49386;EAW49387;EAW49388;NP_001029097;NP_003243;Q01085 Hs.501203 1661962;1677566;1680990;1708070;1749477;1796942;2164493;2189493 MARC_7529-7530:992008459:1;RH78958;RH80809;RH81093;SHGC-111198;SHGC-81431;STS-N39410;TIAL1_1101 MGC33401;TCBP;TIAR OTTHUMP00000020602;OTTHUMP00000020605;T-cluster binding protein;TIA-1 related protein;TIA-1-related nucleolysin;TIA-1-related protein;TIA1 cytotoxic granule-associated RNA-binding protein-like 1;aging-associated gene 7 protein;nucleolysin TIAR APPROVED protein-coding 11804 04563 603413 REVIEWED 2291818 TIFAB TRAF-interacting protein with forkhead-associated domain, family member B TIFAB associates with TIFA (MIM 609028) and inhibits TIFA-mediated activation of NF-kappa-B (NFKB1; MIM 164011) (Matsumura et al., 2004 [PubMed 15047173]).[supplied by OMIM, Mar 2009] 5 5 5 q31.1 130908347 130911878 - 134812457 134815988 - 134784558 134788089 - 6480464 15047173;14702039;11181995 497189 Q6ZNK6 AB161513;ABBA01068727;AC022092;AMYH01015628;BX119085;CH471062;NM_001099221 BAD89018;EAW62215;NP_001092691;Q6ZNK6 Hs.552091 FLJ00292 OTTHUMP00000159411;TIFA-like protein;TIFA-related protein TIFAB;TRAF-interacting protein with FHA domain-containing protein B APPROVED protein-coding 34024 612663 VALIDATED 1348664 TIGD2 tigger transposable element derived 2 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 4 4 4 q22.1 87330201 87332285 + 90252991 90255075 + 90033968 90036052 + 6480464 15815621;15342556;8917322;8889548;8643651;16712791 166815 B3KNK0;Q4W5G0 ABBA01063563;AC104785;AK027653;AL833679;AMYH01014388;BP334478;BU742379;CB130942;CH471057;NM_145715 AAY40951;BAG51362;EAX06031;NP_663761;Q4W5G0 Hs.58924 1679696 RH94192 DKFZp667D1322 OTTHUMP00000161557;tigger transposable element-derived protein 2 APPROVED protein-coding ENSG00000180346 18333 18186 612973 REVIEWED 1606192 TIFA TRAF-interacting protein with forkhead-associated domain 4 4 4 q25 110490861 110501136 - 113416231 113426508 - 113196782 113207059 - 6480464 22566686;16643855;16189514;15492226;12761501;12566447;12477932;11798190;8889548;1179819;15047173;20332099;19322201;21139048;21890473;21906983;22505724 92610 Q96CG3 AB062110;AB097011;AB097038;ABBA01063814;AC109347;AK292900;AMYH01014468;BC008294;BC014259;BM680110;BM718895;CA772080;CH471057;NM_052864 AAH08294;AAH14259;AAY40963;ABM84607;ABM87121;BAB86902;BAC77364;BAC77391;BAF85589;EAX06273;NP_443096;Q96CG3 Hs.310640 1739181 D4S2756 MGC20791;T2BP;T6BP;TIFAA OTTHUMP00000219663;OTTHUMP00000219664;TRAF-interacting protein with FHA domain-containing protein A;TRAF-interacting protein with a forkhead-associated domain;TRAF2 binding protein;TRAF2-binding protein;TRAF6 binding protein;putative MAPK-activating protein PM14;putative NF-kappa-B-activating protein 20 protein-coding ENSG00000145365 19075 09835 609028 VALIDATED 1346429 TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 1 1 p34-p33 43539251 43561366 + 43766566 43788781 + 6480464 22235284;19167335;1312667;7596437;19236867;18675456;18593464;17786322;17728252;17724803;15489334;15340161;12477932;12115483;11920509;11866538;11865050;10995770;10949653;10474040;10430078;8547681;8125298;7655012;10051567;19913121;20628086;19880500;20164029;20227369;20346360;17549794;16344560;22103492;8889548;22342979;22421998;22623531 7075 B4DTW8;E9PG63;P35590 ABBA01050960;AC093420;AF217976;AK225560;AK296735;AK300399;AK300623;AK307639;AL139289;AL833389;AMYH01000557;BC038239;BM970991;CH471059;CS305264;CS322899;DB287371;EU826586;EU826587;EU826588;EU826589;EU826590;NG_030673;NM_001253357;NM_005424;R13130;S79347;X60957 AAD14299;AAG17219;AAH38239;ACF47622;ACF47623;ACF47624;ACF47625;ACF47626;BAG59322;BAG62130;BAG62316;CAA43290;CAK49654;CAK96151;EAX07106;EAX07107;NP_001240286;NP_005415;P35590 Hs.78824 1674547;1704252;1717007;1751211;1769702;2119353;2154376;5014051;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;L18426;RH124050;RH70264;RH70854;SHGC-105070;SHGC-11974;SHGC-83260;WI-12355 JTK14;TIE OTTHUMP00000008352;receptor tyrosine kinase;soluble TIE1 variant 1;soluble TIE1 variant 2;soluble TIE1 variant 3;soluble TIE1 variant 4;soluble TIE1 variant 5;tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1;tyrosine-protein kinase receptor Tie-1 APPROVED protein-coding ENSG00000066056 11809 02572 600222 REVIEWED 1313398 TIGD3 tigger transposable element derived 3 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 11 11 11 q13.1 62448624 62451426 + 64878858 64881660 + 65122282 65125084 + 6480464 15489334;12477932;8889548;22080934 220359 Q6B0B8 ABBA01024128;AC000353;AL558462;AMYH01003719;AP000944;BC074862;BU741546;CH471076;DR002049;NM_145719 AAH74862;EAW74378;NP_663771;Q6B0B8 Hs.632121 1673598;1712124;1774397;1856918;2106729;2177744 D11S2302E;G54111;RH45882;SHGC-30608;SHGC-53496;TIGD3__5261 OTTHUMP00000231638;tigger transposable element-derived protein 3 APPROVED protein-coding ENSG00000173825 18334 18187 REVIEWED 1344912 TIGD1 tigger transposable element derived 1 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 2 2 2 q37.1 227177093 227179540 - 233121023 233123470 - 233412779 233415226 - 1580863;6480464 15815621;15489334;14702039;12477932;8917322;8643651;21832049 200765 Q13537;Q96MW7 ABBA01002018;AC092165;AK056329;AMYH01011571;BC035143;BC063500;CH471063;NM_145702;U49973 AAB61714;AAH35143;AAH63500;AAY24104;BAB71153;EAW71006;NP_663748;Q96MW7 Hs.211823 5124307 RH69349 EEYORE OTTHUMP00000164359;jerky homolog-like;tigger transposable element-derived protein 1 APPROVED protein-coding ENSG00000221944 14523 18185 612972 VALIDATED 1314017 TIGD4 tigger transposable element derived 4 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 4 4 4 q31.3 151014497 151024869 - 153909956 153920327 - 153690506 153700916 - 1580863 14702039;15489334;12477932;17207965;20211142 201798 Q8IY51 ABBA01070127;AC106882;AK058054;AMYH01014624;BC037869;CH471056;NM_145720 AAH37869;ADQ32517;BAB71642;EAX04973;NP_663772;Q8IY51 Hs.301243 MGC43837 OTTHUMP00000220279;tigger transposable element-derived protein 4 APPROVED protein-coding ENSG00000169989 18335 18188 REVIEWED 1323107 TIGD5 tigger transposable element derived 5 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 140990313 140992724 + 144751364 144753627 + 144680074 144682485 + 6480464 15489334;14702039;12477932;21906983;22797925 84948 Q53EQ6 ABBA01005246;ABBA01005247;AC067930;AK027832;AK223583;AMYH01019111;BC032632;BC069229;CH471162;NM_032862 AAH32632;AAH69229;BAB55398;BAD97303;EAW82226;NP_116251;Q53EQ6 Hs.71574 1680521;2106731;2131235;2131962;5024706 D19S994;RH65386;RH79617;RH80155;TIGD5__5262 FLJ14926;MGC44883 OTTHUMP00000221757;tigger transposable element-derived protein 5 APPROVED protein-coding ENSG00000179886 18336 18189 VALIDATED 1343289 TIGD6 tigger transposable element derived 6 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009] 5 5 5 q32 145454069 145461604 - 149352874 149360410 - 149372686 149380730 - 1580863;6480464 16381901;15489336;15489334;14702039;12477932;11230166;11076863;11256614 81789 Q17RP2 ABBA01026288;AC011406;AK056604;AK092978;AK096325;AL136539;AMYH01015706;BC033641;BC117249;CH471062;CR533559;NM_001243253;NM_030953 AAI17250;BAB71230;BAG53260;CAB66474;CAG38590;CAL38633;EAW61753;NP_001230182;NP_112215;Q17RP2 Hs.169333 1856350;2176872 RH66604;STS-H44364 DKFZp761E2110 OTTHUMP00000160520;OTTHUMP00000224089;tigger transposable element-derived protein 6 APPROVED protein-coding ENSG00000164296 18332 18190 VALIDATED 1353666 TIMD4 T-cell immunoglobulin and mucin domain containing 4 5 5 q33.3 156278948 156322844 - 156346293 156390266 - 737633;1580863;6480464 12477932 19392790;19217291;19060906;18294362;18083575;18082433;17439824;17407086;16940744;15489334;20656318;20140011;20237496;17207965;20972250;21037090;18704309;23505323;22709877;20727045;21896488;20686565;22353209;23555248 91937 B5MCV9;Q96H15 AA843555;ABBA01044278;AC008491;AC026777;AK131025;AK301337;AK312746;AMYH01015740;AMYH01015741;BC008988;CH471062;JX049980;NM_001146726;NM_138379 AAH08988;ADQ32747;AFO66594;BAG62885;EAW61617;NP_001140198;NP_612388;Q96H15 Hs.334907 1716001 RH122743 FLJ27515;SMUCKLER;TIM4 OTTHUMP00000160736;OTTHUMP00000197158;T-cell immunoglobulin and mucin domain-containing protein 4;T-cell membrane protein 4;TIM-4;TIMD-4 protein-coding ENSG00000145850 25132 15508 610096 VALIDATED 1606681 TIGIT T cell immunoreceptor with Ig and ITIM domains This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009] 3 3 3 q13.31 112420299 112436499 + 115495565 115511038 + 114012833 114029135 + 19011627;19197944;14702039;12477932;22706088;19815499;21416464;22421438;22427644 201633 C9J0B0;C9JZW6;Q495A1 ABBA01061638;AC093010;AK097192;AL833175;AMYH01013399;BC101288;BC101289;BC101290;BC101291;BX640915;CH471052;EU675310;NM_173799 AAI01289;AAI01290;AAI01291;AAI01292;ACD74757;BAC04973;CAE45956;CAI46183;EAW79602;NP_776160;Q495A1 Hs.421750 DKFZp667A205;FLJ39873;VSIG9;VSTM3;WUCAM OTTHUMP00000214903;OTTHUMP00000214904;OTTHUMP00000214905;OTTHUMP00000214906;T cell immunoreceptor with Ig and ITIM domains;T-cell immunoreceptor with Ig and ITIM domains;V-set and immunoglobulin domain containing 9;V-set and immunoglobulin domain-containing protein 9;V-set and transmembrane domain containing 3;V-set and transmembrane domain-containing protein 3;Washington University cell adhesion molecule APPROVED protein-coding ENSG00000181847 26838 08804 612859 VALIDATED 1346517 TIGD7 tigger transposable element derived 7 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 3554494 3557062 - 3288833 3291401 - 3348808 3355439 - 6480464 15489334;15487591;14702039;12477932 91151 I3L2A8;Q6NT04 ABBA01026739;AC004232;AF251050;AI925903;AK308054;AMYH01007092;BC069623;BC069632;BX463753;DC351858;NM_033208 AAH69623;AAH69632;AAK34940;NP_149985;Q6NT04 Hs.161287;Hs.744373 1658171;1677640;2106733;2112888 D16S3375;RH92140;SHGC-37723;TIGD7__5263 FLJ98002;FLJ99447;Sancho OTTHUMP00000159671;jerky homolog-like;tigger transposable element-derived protein 7 APPROVED protein-coding ENSG00000140993 18331 11632 612969 REVIEWED 734114 TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011] 11 11 11 q12.1-q12.3 54652463 54654751 - 57052512 57054808 - 57295936 57298232 - 6480464 16712791;10552927;16669873;16387659;15489334;14726512;12882976;12477932;12138093;11489896;10611480;9430585;20877624;22939629;18029348;19953087;21906983;22505724;22944692 26519 P62072 ABBA01021474;AF150089;AF152354;AI498204;AK289751;AMYH01003652;AP002893;BC032133;CB106298;CH471076;NM_012456 AAD39995;AAF15104;AAH32133;BAF82440;EAW73753;NP_036588;P62072 Hs.235750 1676930;2109951;2115067 RH45362;RH80354;TIMM10_9493 TIM10;TIM10A OTTHUMP00000234850;OTTHUMP00000234851;OTTHUMP00000234852;mitochondrial import inner membrane translocase subunit Tim10 APPROVED protein-coding ENSG00000134809 11814 03768 602251 REVIEWED 1351951 TIMM21 translocase of inner mitochondrial membrane 21 homolog (yeast) 18 18 18 q22.3 68680277 68690735 + 69966726 69977184 + 71815746 71826204 + 737633;6480464 12477932 15489334;11042152;20877624;23260140;21139048;21890473 29090 A8K1K8;J3KRJ3;J3QRI1;Q9BVV7 ABBA01056323;AC084702;AF161503;AK289923;AK313936;AMYH01009095;BC000892;BG431414;BG820086;CH471117;NM_014177 AAF29118;AAH00892;ABM82061;ABM85240;BAF82612;BAG36655;EAW66540;EAW66541;EAW66542;EAW66543;NP_054896;Q9BVV7 Hs.532835 1734580;1740183;1768011;2172783 D18S1064;D18S1263;D18S938E;RH68742 C18orf55;HSPC154;TIM21 OTTHUMP00000163746;TIM21-like protein, mitochondrial;mitochondrial import inner membrane translocase subunit Tim21 APPROVED protein-coding ENSG00000075336 25010 13706 615180 VALIDATED 736128 TIMM10B translocase of inner mitochondrial membrane 10 homolog B (yeast) FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004] 11 11 11 p15.4 6621737 6624971 + 6459253 6462487 + 6502677 6505911 + 1580863;6480464 9731230;16344560;15489334;14726512;14702039;12477932;11489896;10611480;10552927;20877624;22939629 26515 B2R4A9;F2Z2B0;Q9Y5J6 ABBA01028669;AC084337;AF150105;AF152355;AF183415;AI052126;AK002130;AK058048;AK311763;AMYH01003367;BC011014;CH471064;DA290694;NM_012192 AAD40011;AAF15105;AAG09684;AAH11014;BAG34706;BAG51018;EAW68706;NP_036324;Q9Y5J6 Hs.702646 1699180;5015619;5015861;5037552;7185938 D10S16;D11S3114;D8S2279;RH103170 FXC1;TIM10B;Tim9b OTTHUMP00000164584;OTTHUMP00000213157;OTTHUMP00000230720;fracture callus 1 homolog;fracture callus protein 1;mitochondrial import inner membrane translocase subunit Tim10 B;mitochondrial import inner membrane translocase subunit Tim9 B APPROVED protein-coding ENSG00000132286 4022 16242 607388 VALIDATED 731567 TIMELESS timeless circadian clock 12 12 q13.3 55097174 55129433 - 56810157 56843200 - 6480464 10428031;22266860;22610502;22672906;15798197;9856466;9856465;17102137;19470168;18228528;17909269;17296725;17141802;17116885;17081983;16964243;16507006;15946665;15565336;15489334;15342556;15302935;15300647;14985107;14702039;14637143;12875843;12477932;11382904;9891984;18451105;19693801;19839995;19934327;19996108;20072116;20124417;20149345;20174623;20180986;20379614;20211142;20980603;19913121;20554694;20628086;21490103;22863883;21573113;22939629;22006848;21508667;20360068;19471022;21139048;21890473;21988832;23000965;23173913;23325691;23255133;23511638 8914 E7EWS5;Q9UNS1 AB015597;ABBA01008424;AC024884;AF098162;AK000721;AK022702;AK296869;AMYH01004504;AMYH01004505;AY207390;BC031514;BC039842;BC050557;BE503292;BP363571;BX640990;CH471054;EU627094;NM_003920 AAC80011;AAH39842;AAH50557;ACD11488;BAA36499;BAG51106;BAG59432;CAE45996;EAW96939;NP_003911;Q9UNS1 Hs.118631 1768313;1796944;2156363 D12S1778;RH48818;TIMELESS_1103 FLJ12640;FLJ20714;TIM;TIM1;hTIM OTTHUMP00000244115;OTTHUMP00000244116;Tof1 homolog;protein timeless homolog;timeless circadian clock 1;timeless homolog APPROVED protein-coding ENSG00000111602 11813 04864 603887 VALIDATED 1352849 TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013] 19 19 p13.3 2376622 2378875 - 2425622 2427875 - 1580863;6480464 17353931;10552927;17329230;15489334;15254020;12477932;12221072;12191765;12185844;12154367;11875042;11798021;11489896;11450972;11101512;10611480;21145461;16387659;22863883;22939629;16344560;21988832;19471022;20639865;21139048;21890473;21906983;22118674;19322201;22190034 26517 K7EIT2;Q9Y5L4 ABBA01002736;AC011522;AF144700;AF152352;AK024764;AL520160;AMYH01009283;BC008607;BI908100;BI966836;BQ015233;CH471139;DA890574;DA947460;NM_012458 AAD39951;AAF15102;AAH08607;ABM82681;ABM85863;EAW69380;EAW69381;NP_036590;Q9Y5L4 Hs.75056 1654501;1793808;2130110;2135130 PMC291826P2;RH16547;RH45373;SHGC-33038 TIM13;TIM13B;TIMM13A;TIMM13B;ppv1 mitochondrial import inner membrane translocase subunit Tim13;mitochondrial import inner membrane translocase subunit Tim13B APPROVED protein-coding ENSG00000099800 11816 09573 607383 REVIEWED 733790 TIMM17A translocase of inner mitochondrial membrane 17 homolog A (yeast) 1 1 1 q32.1 175048350 175063536 + 200191271 200206412 + 201924619 201939789 + 737677;1580863;6480464 10339406 18826960;16344560;15489334;14702039;12477932;12119107;10393182;8893850;20198662;17207965;20877624;16169070;20053669;22939629;20972741;21900206;21906983 10440 Q7RU05;Q99595 ABBA01027522;AC099676;AF106622;AK023063;AK315602;AMYH01001644;AU123184;BC000294;BC004439;BC007106;BC009784;BC013823;BC015098;BC016817;BC020833;BN000001;CH471067;NM_006335;X97544 AAD19596;AAH00294;AAH04439;AAH07106;AAH09784;AAH15098;AAH16817;AAH20833;ADQ32814;BAG37972;CAA66146;CAD29856;EAW91383;EAW91384;EAW91385;NP_006326;Q99595 Hs.20716 1646948;1768932;2124939;2179769;5014051;5015619;5020635;5022578;5037552;5109281 D11S3114;D1S1423;D1S1425;D7S3207;D8S2278;D8S2279;G29200;RH67823;SHGC-76127;SHGC-76129 TIM17;TIM17A OTTHUMP00000033951;inner membrane preprotein translocase Tim17a;mitochondrial import inner membrane translocase subunit Tim17-A;mitochondrial inner membrane translocase;preprotein translocase protein-coding ENSG00000134375 17315 05449 605057 VALIDATED 1350623 TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) This gene encodes a protein that is part of the mitochondrial transport TIMM23 complex. TIM translocase complexes facilitate the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009] X X X p11.23 52908104 52912800 + 48635676 48640370 - 48750730 48755426 - 737677;1580863;6480464 10339406 15772651;15489334;12477932;11042152;9931253;19377476;19596235;18029348;21832049;22939629;21947777;21987572;21906983;21963094 10245 O60830 ABBA01046078;AC233300;AF034790;AF077039;AF196971;AF207550;AJ005895;AK290207;AMYH01022290;BC010142;BC028017;BC029446;BC091473;CA421979;CB993524;CH471224;NG_015967;NG_015968;NM_001167947;NM_005834 AAC24694;AAD27772;AAH10142;AAH29446;BAF82896;CAA06752;EAW50739;EAW50740;EAW50741;NP_001161419;NP_005825;O60830 Hs.30570 1698944;2110779 RH103041;TIMM17B_9074 DXS9822;JM3;TIM17B OTTHUMP00000032404;inner mitochondrial membrane preprotein translocase;mitochondrial import inner membrane translocase subunit Tim17-B APPROVED protein-coding ENSG00000126768 17310 02218 300249 REVIEWED 1626560 TIMM8AP1 translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 1 2 2 2 q24.2 156543327 156544523 - 162642113 162642407 - 162933025 162934221 - 8841189 399520 ABBA01004891;AC008063;AMYH01011214;NG_003187;U66034 1678151;1774707;2164900;2164902 A006J40;D20S1036;G20882;RH12637 DDPP;TIMM8AP APPROVED pseudo 17802 INFERRED 1345582 TIMM22 translocase of inner mitochondrial membrane 22 homolog (yeast) 17 17 17 p13 911709 916736 + 847107 852157 + 900357 905407 + 1580863;6480464 15489334;14726512;14702039;12477932;11864609;10611480;8125298;11591653;20877624;19322201 29928 Q9Y584 ABBA01054630;AC015884;AF155330;AK000830;AK225453;AMYH01007983;BC002324;CH471108;NM_013337 AAD40106;AAH02324;BAA91392;EAW90637;EAW90638;NP_037469;Q9Y584 Hs.592108 1783454;2114902 SHGC-102222;SHGC-31242 TEX4;TIM22 mitochondrial import inner membrane translocase subunit Tim22;putative membrane protein;testis-expressed sequence 4 protein-coding ENSG00000177370 17317 06262 607251 PROVISIONAL 6481016 TIMM8BP1 translocase of inner mitochondrial membrane 8B pseudogene 1 13 30440096 30440306 - 100874425 ABBA01035707;AL139188;AMYH01005001;NG_032236 pseudo 39211 INFERRED 6481007 TIMM8BP2 translocase of inner mitochondrial membrane 8B pseudogene 2 X 133300712 133300962 + 100874417 ABBA01042404;AC002407;AMYH01022992;NG_032237 pseudo 39212 INFERRED 732380 TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012] 10 10 10 q11.23 42892686 42893221 - 51262094 51293342 - 51592080 51623386 - 737677;1580863;6480464 10339406 15044455;15489334;12477932;12437925;10393182;8125298;16368877;14702039;15164054;18029348;20139978;23260140;22306744;14726512;8570611;21906983;19471022;22505724 100287932 B1APJ0;E9PB91;H0Y6X5;O14925 ABBA01006259;ABBA01033539;AF030162;AF116628;AK098044;AK223331;AK295370;AK304883;AK316549;AL450342;AL672187;AMYH01002693;AMYH01002694;AMYH01002695;AY442341;BC062707;BC066951;BU619060;BY799488;CD514420;NG_032850;NM_006327;NR_073029;NR_073030;U38436 AAB84060;AAF71051;AAH62707;AAH66951;AAR14723;BAD97051;BAG58330;BAG65620;BAG65627;NP_006318;O14925 Hs.499594;Hs.524308;Hs.661964 2109953;2127982;5022578;5037552;5107782;5115168;5118444 D11S3316;D1S1423;D1S3475;D8S2279;RH1575;SHGC-37191;TIMM23_9108 FLJ40725;FLJ56773;FLJ57459;FLJ79448;MGC22767;MGC71995;MGC87383;PRO1197;TIM23 OTTHUMP00000019591;OTTHUMP00000019592;OTTHUMP00000019598;OTTHUMP00000019599;mitochondrial import inner membrane translocase subunit Tim23 APPROVED protein-coding ENSG00000138297 17312 605034 REVIEWED 6480158 TIMM9P1 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 1 10 q22.2 76104305 76104563 - 100862726 ABBA01020284;AC022026;AMYH01002835;NG_032133 pseudo 39928 INFERRED 6480155 TIMM9P2 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 2 21 q22.2 40588580 40588714 + 10830953 100862727 ABBA01009348;AF129408;AMYH01012245;NG_032134 pseudo 39929 INFERRED 6480157 TIMM9P3 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 3 13 q14.13 46127027 46127271 - 100862725 ABBA01050977;AL139326;AMYH01005092;NG_032132 FLJ32682 pseudo 39930 INFERRED 1347528 TIMM23B translocase of inner mitochondrial membrane 23 homolog B (yeast) 10 10 q11.23 51041385 51064926 + 51371379 51387766 + 15164054;10339406;10393182;12437925;12477932;14702039;15044455;15489334;17207965;8125298;22939629;21139048;21906983;21963094;22505724 653252 E7EP42;M0QZG8;M0R0T5;Q5SRD1 AK293228;AK295227;AL672187;XM_003118952;XM_003846358 ADQ33011;BAG56767;BAG58220;Q5SRD1;XP_003119000;XP_003846406 Hs.499594 1689109;1689650;1766243;1771131;1780476;2115381;2127982;2133884;2171788;2171902;5114322 Bda68f05;RH1574;RH1575;RH44523;RH68500;SGC35292;SHGC-149602;STS-X57928;WI-17185;WI-19959;stbA746L15SP6 MGC22767;TIMM23;bA592B15.7 OTTHUMP00000019591;OTTHUMP00000019592;putative mitochondrial import inner membrane translocase subunit Tim23B;translocase of inner mitochondrial membrane 23 homolog B (yeast) protein-coding ENSG00000204152 23581 MODEL 734087 TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) 19 19 19 p13.3-p13.2 7862805 7879908 - 7897603 7914538 - 7991603 8008708 - 737677;1580863;6480464 10339406 20053669;12620389;15489334;12477932;10848612;10393182;8125298;12677068;20471030;20877624;22939629;18029348;18781797;21139048;21890473 10469 M0QXM9;M0QXU7;M0R124;M0R301;O43615 ABBA01010874;ABBA01010875;AC010336;AF026030;AF041254;AK223062;AK289634;AK309415;AMYH01009419;BC033628;CH471139;CR627419;NM_006351 AAB97740;AAD01797;AAH33628;ABM82227;ABM85412;BAD96782;BAF82323;CAH10507;EAW68954;EAW68955;NP_006342;O43615 Hs.465784 1786712;2109955 SHGC-154855;TIMM44_9116 DKFZp686H05241;TIM44 mitochondrial import inner membrane translocase subunit TIM44;mitochondrial inner membrane translocase;translocator of inner mitochondrial membrane 44 protein-coding ENSG00000104980 17316 05450 605058 VALIDATED 1350353 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] X X q22.1 100487306 100490343 - 100600644 100603957 - 1600152;1580863;6480464;7240710 11405816 17353931;8841189;18029348;17999202;17534980;16411215;16332536;15772651;15710860;15489334;15254020;15146197;14509668;12745081;12477932;11956200;11875042;11803487;11601506;11489896;11101512;10878669;10873677;10611480;10552927;10051608;10051550;7959728;7643352;19913121;20628086;19615732;14726512;16387659;21984432;20972266;21139048;21890473;21906983;22118674;22037423;20301395;22190034 1678 O60220 ABBA01044974;AK312117;AL035422;AMYH01022725;AW204693;BC005236;BC006994;BC015093;BC070284;BM467820;BQ013177;CH471115;CN410182;NG_011734;NM_001145951;NM_004085;U66035 AAC15946;AAH06994;AAH15093;AAH70284;BAG35053;EAX02853;EAX02854;NP_001139423;NP_004076;O60220 Hs.447877 1676150;1694920;1701868;1774707;2106451;2154659 BTK_4321;D20S1036;G44349;GDB:376892;RH35738;RH93533 DDP;DDP1;DFN1;MGC12262;MTS;TIM8 OTTHUMP00000023681;X-linked deafness dystonia protein;deafness dystonia protein 1;deafness/dystonia peptide;mitochondrial import inner membrane translocase subunit Tim8 A APPROVED protein-coding ENSG00000126953 11817 02287 300356;304700;311150 REVIEWED 1606193 TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 19 19 19 q13.2 36772761 36783237 + 44662892 44673368 + 39971052 39981528 + 6480464 15044455;16008839;15489334;14702039;12620389;12477932;12437925;16169070;21145461;17353931;15280358;20562864;23184937;21621504;23098911;22939629;18457437;21343306;21742040;20360068;21930695;16196087;21875946;20639865;21139048;21890473;21906983;21987572;22354994;19380743 92609 M0QXC3;M0R003;M0R047;M0R0C3;M0R1Y4;M0R2D2;M0R2F8;M0R2Q2;M0R2Z3;M0R303;Q330K1;Q3ZCQ8 ABBA01040730;AC011500;AK092396;AK097291;AK098197;AMYH01009794;AY444561;AY551341;BC009072;BC010736;BC014674;BC050082;BC121146;BC121147;BE386959;BI856163;BQ925812;BU540967;CH471126;NM_001001563 AAH09072;AAH10736;AAH50082;AAI21147;AAI21148;AAS68537;AAT01208;EAW56901;EAW56902;EAW56903;NP_001001563;Q3ZCQ8 Hs.590956;Hs.597106 1689807;1733422;2165059;5016596;5016700;5024756 A007E39;D19S575;GDB:631802;RH46041;RH79802;RH80030 MGC102733;TIM50;TIM50L Tim50-like protein;homolog of yeast Tim50;mitochondrial import inner membrane translocase subunit TIM50 protein-coding 23656 12118 607381 VALIDATED 734090 TIMM8B translocase of inner mitochondrial membrane 8 homolog B (yeast) This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009] 11 11 11 q23.1-q23.2 109108716 109110714 - 111461079 111462669 - 111955524 111957522 - 1580863;6480464 17353931;10552927;15489334;12477932;10611480;8889548;19913121;20628086;20877624;16387659;20639865;20972266;21139048;21906983;21890473;21988832;22053931;23000965;22190034;22505724 26521 E9PIR3;G3XAN8;Q9Y5J9 ABBA01039805;AF150087;AF152350;AF165967;AK025397;AK312169;AMYH01004034;AP002007;BC000711;BC105986;BC106067;CF541334;CH471065;EF445036;NG_012337;NG_033145;NM_012459;NR_028383 AAD39994;AAD51801;AAF15100;AAH00711;AAI05987;AAI06068;ACA06083;BAG35103;EAW67180;NP_036591;Q9Y5J9 Hs.279915 1669935;1683709;1688610;2144740;2153457 RH64925;RH80714;RH94343;SHGC-53144;WI-11979 DDP2;FLJ21744;MGC102866;MGC117373;TIM8B DDP-like protein;OTTHUMP00000221758;deafness dystonia protein 2;mitochondrial import inner membrane translocase subunit Tim8 B APPROVED protein-coding ENSG00000150779 11818 16228 606659 REVIEWED 1352655 TIMM9 translocase of inner mitochondrial membrane 9 homolog (yeast) TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004] 14 14 14 q21 38925342 38944209 - 57945123 57963985 - 58875370 58894232 - 1580863;6480464 10552927;16387659;15489334;14726512;12477932;12138093;11489896;10611480;17207965;18029348;20877624;22939629;21890473;21906983 26520 G3V2F3;G3V306;G3V502;Q9Y5J7 ABBA01018258;ABBA01018259;ABBA01018260;AF150100;AF152353;AK000666;AK312095;AL139021;AMYH01005761;BC020213;BC054875;CH471061;NM_012460 AAD40006;AAF15103;AAH20213;AAH54875;ADQ32389;BAG35031;EAW80735;EAW80736;EAW80737;EAW80738;NP_036592;Q9Y5J7 Hs.440525 1858239;1858241;2144117 G35361;RH44925;RH46962 TIM9;TIM9A OTTHUMP00000179028;OTTHUMP00000245309;OTTHUMP00000245311;OTTHUMP00000245463;mitochondrial import inner membrane translocase subunit Tim9 APPROVED protein-coding ENSG00000100575 11819 09574 607384 PROVISIONAL 1346434 TINAG tubulointerstitial nephritis antigen This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011] 6 6 p12.1 54281162 54362872 + 54173203 54254950 + 1580863;6480464 10652240;8770961;1762287;12477932;10752525;9643646;3553704;1466368;10581025;20379614;17207965;20923822;20157734 27283 B1AQ11;Q5T466;Q5T471;Q6NSC1;Q9UJW2 AB022277;ABBA01050516;AF195116;AF195117;AK312918;AL359380;AL589946;AMYH01016361;AW027949;BC056235;BC070278;CH471081;NM_014464 AAF08931;AAF08932;AAH56235;AAH70278;ACE86899;ACE87586;ADQ32005;BAA84949;BAG35763;EAX04437;NP_055279;Q9UJW2 Hs.127011 1855229;2109957;5109281 D1S1425;D6S2019;TINAG_9543 TIN-AG OTTHUMP00000016641;tubulointerstitial nephritis antigen APPROVED protein-coding ENSG00000137251 14599 09483 606749 REVIEWED 1351318 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 3 3 3 q13.33 117625927 117651681 + 120700058 120725818 + 119217368 119243128 + 6480464 11256614;16381901;15489336;15489334;12975309;12477932;11230166;11092749;11076863;8125298;16751776;20877624;21048031;16712791;19019082;20413980;21399635;21832049;22939629;22354554;21139048;21833088;23000144 51300 C9JR82;C9JU35;F8WAU6;F8WB00;F8WC42;G3XA94;H7C5U1;Q9NPL8 ABBA01061583;AC073352;AF139077;AF210057;AK026250;AK225954;AL136622;AL390077;AL390090;AL390094;AMYH01013419;AY358633;BC012341;BG705703;CB105366;CH471052;CR457158;CR533524;DQ572402;NM_016589 AAF62372;AAG43510;AAH12341;AAQ88996;CAB66557;CAB98201;CAB98212;CAB98251;CAG33439;CAG38555;CAL38508;EAW79566;EAW79567;EAW79568;EAW79569;NP_057673;Q9NPL8 Hs.477287 1735252;1771006;2143178;2143180;2155589;2185097 A001T27;D3S2834E;D3S2914E;G19630;RH47148;RH47157 C3orf1;FLJ22597 M5-14 protein;OTTHUMP00000215141;OTTHUMP00000215142;translocase of inner mitochondrial membrane domain-containing protein 1;transmembrane protein C3orf1 APPROVED protein-coding 1321 12817 VALIDATED 69155 TIMP4 TIMP metallopeptidase inhibitor 4 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008] 3 3 p25 12169568 12175647 - 12194568 12200851 - 1580863;2290439;2290466;2290434;2290436;1302333;1302825;2290471;2290414;2290421;2290437;2290433;2290435;1642040;2290463;2290420;2290455;2290467;2290470;2290461;6480464 11466614;11044612;15816637;14744773;12923405;15238617;10067796;17009974;11576837;12828172;16940965;15273280;17398390;12483743;12798711;9190892;10773234;10082471;12707244 8939999;19527514;19376102;19190762;19048177;19036126;19019335;18818748;18336787;18301898;18214300;16809379;16521002;15713681;15489334;12969699;12477932;12475252;12466243;12374789;12087081;11948685;11178970;10198170;9693046;9182583;19913121;20587546;20628086;19700750;20484597;20140262;20693981;19734590;21406447;20219015;21624734;21620625;22018271 7079 Q99727 ABBA01025206;AC026166;AF057532;AK313018;AMYH01012983;BC010553;BT019627;CH471055;NG_011728;NM_003256;U76456 AAB40391;AAC34422;AAH10553;AAV38433;ABM82721;ABM85904;BAG35853;EAW64122;NP_003247;Q99727 Hs.591665 1666847;1796948 SHGC-76712;TIMP4_1491 OTTHUMP00000160184;TIMP-4;metalloproteinase inhibitor 4;tissue inhibitor of metalloproteinase 4;tissue inhibitor of metalloproteinases 4 APPROVED protein-coding ENSG00000157150 11823 03557 601915 REVIEWED 1347215 TIMP1 TIMP metallopeptidase inhibitor 1 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008] X X p11.3-p11.23 47326634 47331134 + 47441690 47446190 + 1580145;1580146;1580147;1580148;1580155;1580156;1580157;1580159;1580160;1580161;1580162;1580163;1580164;1580165;1580166;1580167;1580168;1580169;1580170;1580171;1580172;1580863;2290466;2290349;2290345;2290356;2290399;1600154;2290467;2290351;2290353;2290348;1642026;2312465;2290354;2290364;2312481;2298520;2312464;2298523;2312468;2290346;2290468;2290352;2290343;2290350;2312467;6480464;6484113 16372907;16269968;16103240;16005367;16042227;15888067;15944607;15867221;15754326;15616792;15797648;15363818;15287862;15073104;14605322;14669348;12951656;12614934;12626459;12218659;11876751;11044612;16901349;17478562;9472898;17083831;16683235;10773234;17977875;17569694;17114213;17512313;19134282;17569353;8707259;11004090;17695443;19506087;12487935;17020653;17407159;10719361;17569872;18172859;11595703;17192464 21163810;17878270;15028476;12651627;11598182;12714508;2251898;3839290;1653055;19513566;19390929;19383344;19383343;19383295;19358835;19336475;19331801;19288452;19141395;19036126;19020757;19019896;18984437;18945772;18854176;18850474;18692810;18645261;18636124;18634035;18630499;18502033;18487063;18477480;18474748;18395263;18391843;18385523;18298349;18292822;18291374;18273688;18236174;18217401;18214300;18159069;18063811;18049028;18042068;18034264;18025061;17998244;17928006;17920311;17899257;17893005;22200256;22122951;22305865;17786346;17763191;17726014;17703334;17660250;17634538;17589947;17564313;17549663;17543340;17493602;17489740;17409012;17380436;17350093;17340613;17301822;17299802;17226791;17222415;17209789;17205957;17202148;17182940;17136882;17072372;17071711;17050530;17012236;17009408;17008230;16996520;16960901;16940985;16935611;16931892;16880228;16877361;16864898;16840178;16786122;16772717;16767366;16754484;16740002;16631927;16615041;16555295;16496359;16474379;16410344;16407831;16335952;16303743;16289162;16288711;16280123;16263699;16219294;16169070;16107690;16100012;16061701;16019435;15896974;15890357;15841325;15818737;15754388;15557756;15530852;15516987;15515157;15494493;15489334;15485866;15479729;15465038;15363817;15340161;15313474;15277439;15248826;15161657;15051730;14983226;14973177;14962256;14871825;14734567;14710472;14688084;14661256;14652000;14648584;14622947;14517716;12970724;12921631;12904305;12873541;12869573;12861139;12846741;12791318;12771930;12717827;12704667;21427648;12620441;12612199;12538453;12496489;12479097;12477932;12475252;12452001;12406369;12376362;12150976;12147251;12082592;12063180;12034345;12032189;11940298;11935340;11796725;11762702;11705862;11606052;12634064;22706255;11279011;10623524;10441576;10233411;10071915;9778693;9288970;9286280;9063449;8757599;7507419;3903517;3688834;3460333;3010309;2921031;2171551;2163605;1730286;1420137;12081564;15225209;22532131;21946941;22051851;22547904;16248458;20838751;20889295;18683786;19913121;20514432;20587546;20616161;20628086;20628624;17045024;20673868;20707923;20030715;20545310;20584750;17572998;19012952;19653096;20388222;20459644;17456311;12834347;14630798;16191301;16917503;17162914;18787947;19246282;19387352;19430729;19464975;19524176;19551542;19560452;19596921;19608737;19609944;19629003;19637058;19717938;19723139;19723899;19728856;19747478;19758569;19766963;19781774;19796534;19814619;19875168;19887890;19889076;19904223;19911067;20021931;20041335;20051489;20095885;20164040;20371206;20452482;20484597;20646231;20556397;20655547;20798956;21115936;20298300;20111696;20305574;22402936;22427646;22457727;20450704;20533294;21993004;23060593;20595097;20853162;20854182;20654099;21437624;20215736;21167221;19134356;20193458;21094936;21586274;20545111;21454617;21086628;21165404;19863693;20361393;18704317;22671570;22957045;21547130;21041986;21283828;21211402;21437772;21524282;21535601;21463121;21763297;21903858;22223664;20423842;21128246;21882477;22718114;22820628;23016931;20921293;21487066;21506705;20685094;22364921;21858035;21987572;22016393;21720458;21731773;21963718;21995626;21709637;21684102;21139048;21906983;22020222;21745383;21860087;22177802;22516898;22558080;22712305;22110238;21928345;22139647;22291969;22465225;22286923;21881840;21969093;22200690;22289852;19927649;20039537;22906271;22204652;16188099;22397869;22667130;22200710;23057632;23158994;23175213;22199358;22739984;22985578;23407481;23583449;22971139;22901654;23509357;23107442;22544540;21786179;23650722;22883459;22859303;22965799;22645431;21963094;23000965;23122949 7076 B4DJK3;H0Y789;P01033;Q5H9A7;Q5H9B4;Q5H9B5;Q6FGX5 A10416;ABBA01052381;ABBA01052382;AK074854;AK296116;AK310206;AK311937;AMYH01022264;AY932824;BC000866;BC007097;BQ181804;BU857950;CH471164;CR407638;CR541982;D11139;FB571112;FB668243;HI574166;L47361;M12670;M59906;NG_008437;NG_012533;NM_003254;S68252;X02598;X03124;Z84466 AAA52436;AAA63234;AAA75558;AAD14009;AAH00866;AAX47478;ABM82048;ABM85227;BAA01913;BAG34878;BAG52016;BAG58865;CAA00898;CAA26443;CAA26902;CAG28566;CAG46779;CAR95107;CAS92765;CBX47572;EAW59315;EAW59316;NP_003245;P01033 Hs.522632 1660337;1701858;1741165;1741697;1741699 GDB:178392;GDB:182149;GDB:182150;GDB:192509;STS-AA001911 CLGI;EPA;EPO;FLJ90373;HCI;TIMP OTTHUMP00000023214;OTTHUMP00000023216;TIMP-1;collagenase inhibitor;erythroid potentiating activity;erythroid-potentiating activity;fibroblast collagenase inhibitor;metalloproteinase inhibitor 1;tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor);tissue inhibitor of metalloproteinases 1 APPROVED protein-coding ENSG00000102265 11820 02371 305370 REVIEWED 733906 TIMP2 TIMP metallopeptidase inhibitor 2 This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008] 17 17 q25 74360654 74433067 - 76849059 76921472 - 1580653;1580169;1580863;1580650;1580161;2290349;2290352;2290394;2290395;2290398;2290436;2290406;1600154;2290397;2290392;2290408;2290360;2290359;2312481;2298521;2312468;2290402;2290407;2290358;2290466;2290468;2290467;6480464 15056834;12614934;16723886;15616792;16901349;17569872;17505812;17466450;17240786;14744773;17982970;16683235;17325663;17642161;17351970;17009991;17572184;11004090;17374529;17020653;16619570;17491697;18035688;11044612;10719361;10773234 21148412;16623785;2157214;22200256;19187648;19141395;19088110;19020757;18702016;18674955;18634035;18543216;18498066;18487063;18477480;18474097;18472160;18469019;18424416;18329693;18301898;18291374;18288718;18265895;18260263;18217401;18177649;18042068;18025061;17991754;17979129;17954022;17901377;17893005;17886098;17868665;17786346;17706812;17613170;17589947;17564313;17495113;17493602;17493172;17448043;17350093;17342343;17236757;17226791;17222415;17203468;17130843;17106248;17071711;17030988;17008230;16940985;16776850;16772717;16728425;16716258;16631927;8810321;17353931;19438747;19431211;19391484;19383344;19358835;19331801;19267203;19241124;22122951;21462296;21478099;21421877;16425263;16424893;16326706;16275157;16237750;16142692;16142392;16103240;16042227;16036783;15944607;15870703;15841325;15797648;15760767;15754326;15691353;15691234;15672858;15628723;15567754;15557756;15489334;15489233;15351863;15308656;15277439;15248826;15247230;15193960;15147743;15052627;14983226;14973177;14962256;14712492;14710472;14702039;14661256;14654538;14605322;14604886;14598888;14517716;12970724;12970394;12900406;12887919;12602913;12479097;12477932;12475252;12470034;12446683;12439941;12406369;12374789;12372458;12147251;12034400;12032297;11912288;11757622;11606052;11598182;11420387;11049985;10991943;10764764;10353844;9933646;16491114;16429190;9837731;9736043;9705310;9455735;9422789;8985130;8757599;8112602;7918391;2793861;2554304;2380196;1730286;1480041;1427908;15225209;9182583;1869284;22270451;22020421;22051851;22551568;19913121;20485444;20514432;20587546;20616161;20627004;20628086;20634891;20672350;20673868;20694560;20707923;20730428;20138860;20889295;21261731;21427648;20233321;17067460;19317417;19464975;19546837;19551542;19551841;19596921;19640333;19698156;19723139;19727008;19758569;19844095;19875168;19883732;19889076;19933216;20041335;20084057;20216978;20452482;20484597;9724659;20149706;19709349;17207965;20718757;20948207;20195229;22427646;20598922;22532131;20685029;20940305;19821096;20215736;20941509;21086628;22546345;22730240;23195431;21195432;21432777;21454617;21437624;21254651;21463121;21526499;21620625;21715326;21871510;22272343;21839835;21228746;22110735;22302011;21732829;22200690;22169692;22374248;22511598;22880464;22262409;22438955;22985025;23264224;22512703;21786179;23251661;23650722;22985578;23320481;22883459;22820140;22685266 7077 B4DFW2;K7EIX4;P16035;Q96MC4 ABBA01002913;ABBA01002914;AC022966;AC100788;AK294290;AL110197;AL713764;AMYH01008675;AMYH01008676;BC010410;BC039613;BC040039;BC040445;BC052605;BC071586;CH471099;FB571110;FB668241;J05593;M32304;NM_003255;S48568;S68860;U44381;U44385;X54533 AAA59581;AAA61186;AAB19474;AAC50729;AAD14025;AAH52605;AAH71586;ADQ32873;BAG57573;CAA38400;CAR95106;CAS92764;EAW89538;EAW89539;EAW89540;EAW89541;NP_003246;P16035;Q96MC4 Hs.633514 1651815;1730229;1739969;2132333;2158190;2170602;5123120 Cda13g07;D13S1217;D17S815E;HSC13G072;RH46997;RH65725;RH71380 CSC-21K;DDC8 OTTHUMP00000205879;TIMP-2;metalloproteinase inhibitor 2;tissue inhibitor of metalloproteinase 2;tissue inhibitor of metalloproteinases 2 APPROVED protein-coding ENSG00000035862 11821 01784 188825 REVIEWED 735741 TIMP3 TIMP metallopeptidase inhibitor 3 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008] 22 22 q12.3 31526802 31589028 + 33196802 33259028 + 1600153;1559178;1580863;2290409;2290426;2290414;2290418;1600154;2290411;2290421;2290437;2290417;2290413;2312470;2312481;2312482;2290412;2290415;2290416;2290420;2290419;2290424;6480464;7240710 9400791;15878627;18205041;17083784;17009974;15507671;16683235;18082200;11576837;12828172;15928670;17032447;19633828;11004090;8840279;17976707;16736496;16256342;12798711;15217927;17551674 21421877;22378045;18344519;18383040;15609325;19527514;19431211;19406980;19296468;19148529;19082505;19020732;19019335;18955737;18818748;18638486;18636124;18566294;18516293;18471442;18316197;18291374;18186556;18006877;17901377;17897911;17893005;17676308;17657847;12687014;12654640;12652295;12477932;12388270;12372614;12044879;11988096;11879143;11827969;11827795;11821400;11353449;10854443;10591208;10196161;9642234;9110174;9065415;8981947;8919688;8808469;8806658;8728699;8666262;8663332;8639088;8634721;8619474;8521299;8188246;8174111;8163205;8034652;7925969;7920634;7894485;7795886;7782289;7772252;7588231;7550309;7487894;7148944;3903517;17592394;17488654;17470431;17376651;17209433;17206475;17202148;17130843;17080297;17033924;17030988;16989765;16908447;16858683;16771712;16259644;16225775;16223891;16079149;15944607;15879156;15824229;15714128;15688381;15599946;15592495;15538971;15489334;15468069;15467768;15461802;15387372;15313474;15297175;15225209;15223866;15203191;15123717;14605322;14532978;12969699;12845640;22492871;22735305;23649698;19913121;20417062;20587546;20628086;20628624;20672350;19299578;19438747;19478078;19536307;19543729;19581416;19643179;19666115;19799609;19834535;19835597;19962668;20385819;20484597;20606036;20140262;20675565;20801516;20346171;20385826;19922547;20598922;20682640;20941363;21102583;23042095;23109338;23166318;21665990;21339735;20388016;21613373;21730794;21983937;22228635;22272343;22291969;21779788;22510504;23172037;21809381;21984580;22415751;22183341;22194599;22550340;22888638;22383695;23023527;22171703;23401241;23455636;23023649;23313877;22694820;22982189 7078 P35625 ABBA01055381;AF001361;AF035289;AK098517;AK298126;AK314871;AL023282;AMYH01012730;BC013086;BC014277;BT006848;CH471095;CR456593;D45917;L15078;NG_009117;NG_029545;NM_000362;S78453;S79779;U02571;U14394;U33110;U33114;U38955;U67195;X76227;X80791;Z30183;Z73979;Z98256 AAA17672;AAA21815;AAB07547;AAB17602;AAB34532;AAB60373;AAB68799;AAC50393;AAH14277;AAP35494;ABM83507;ABM86724;BAA08348;BAG37386;BAG60406;CAA53813;CAA82918;CAG30479;CAK54624;CAK54923;EAW60038;NP_000353;P35625 Hs.644633 1339381;1650355;1661670;1683625;1689478;1711784;1735068;1747421;1752981;1754555;1789046;1796946;1798408;1798808;1798868;1799348;1799912;1801484;1802356;1802446;1802448;1802950;1803964;1804270;1807080;1807884;1808234;1808318;1808652;1809144;1809384;1810016;1810532;1810682;1811614;1812730;1813302;1813960;1814124;1814126;1815076;1815682;1817066;1817276;1817464;1817916;1818644;1820266;1820594;1820656;1820708;1821584;1823648;1823744;1824080;1824252;1824400;1826674;1827210;1827384;1827462;1828766;1829540;1830704;1830894;1832206;1833250;1833860;1835354;1835472;1836970;1837232;1837754;1838140;1840240;1840316;1841420;1841682;1842638;1842716;1844144;1858620;1858658;2016966;2016968;2016970;2016972;2016974;2016976;2016978;2016980;2016982;2016984;2016986;2016988;2016990;2016992;2016994;2016996;2016998;2017000;2017002;2017004;2017006;2017008;2017010;2017012;2017014;2017016;2017018;2017020;2017022;2017024;2017026;2017028;2017030;2017032;2017034;2017036;2017038;2017040;2017042;2017044;2017046;2017048;2017050;2017052;2017054;2017056;2017058;2017060;2017062;2017064;2017066;2017068;2017070;2017072;2017074;2017076;2017078;2017080;2017082;2017084;2017086;2017088;2017090;2017092;2017094;2017096;2017098;2017100;2017102;2017104;2017106;2017108;2017110;2017112;2017114;2017116;2017118;2017120;2017122;2017124;2017126;2017128;2017130;2017132;2017134;2017136;2017138;2017140;2017142;2017144;2017146;2017148;2017150;2017152;2017154;2017156;2017158;2017160;2017162;2017164;2017166;2017168;2017170;2017172;2017174;2017176;2017178;2017180;2017182;2017184;2017186;2017188;2017190;2017192;2017194;2017196;2017198;2017200;2017202;2017204;2017206;2017208;2017210;2017212;2017214;2017216;2017218;2017220;2017222;2017224;2017226;2017228;2017230;2017232;2017234;2017236;2017238;2017240;2017242;2017244;2017246;2017248;2017250;2017252;2017254;2017256;2017258;2017260;2017262;2017264;2017266;2017268;2017270;2017272;2017274;2017276;2017278;2017280;2017282;2017284;2017286;2017288;2017290;2017292;2017294;2017296;2017298;2017300;2017302;2017304;2017306;2017308;2017310;2017312;2017314;2017316;2017318;2017320;2017322;2017324;2017326;2017328;2017330;2017332;2017334;2017336;2017338;2017340;2017342;2017344;2017346;2017348;2017350;2017352;2017354;2017356;2017358;2017360;2017362;2017364;2017366;2017368;2017370;2017372;2017374;2017376;2017378;2017380;2017382;2017384;2017386;2017388;2017390;2017392;2017394;2017396;2017398;2017400;2017402;2017404;2017406;2017408;2017410;2017412;2017414;2017416;2017418;2017420;2017422;2017424;2017426;2017428;2017430;2017432;2017434;2017436;2017438;2017440;2017442;2017444;2017446;2017448;2017450;2017452;2017454;2017456;2017458;2017460;2017462;2017464;2017466;2017468;2017470;2017472;2017474;2017476;2017478;2017480;2017482;2017484;2017486;2017488;2017490;2017492;2017494;2017496;2017498;2017500;2017502;2017504;2017506;2017508;2017510;2017512;2017514;2017516;2017518;2017520;2017522;2017524;2017526;2017528;2017530;2099294;2099296;2099298;2099300;2099302;2099304;2099306;2099308;2099310;2099312;2099314;2099316;2099318;2099320;2099322;2099324;2099326;2099328;2099330;2099332;2099334;2099336;2099338;2099340;2099342;2099344;2099346;2099348;2099350;2099352;2099354;2099356;2099358;2099360;2099362;2099364;2099366;2099368;2099370;2099372;2099374;2099376;2099378;2099380;2099382;2099384;2099386;2099388;2099390;2099392;2099394;2116098;2125021;2136677;2141050;2151211;2151749;2165057;5093530;5124974;7187914 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HSMRK222;K222;K222TA2;SFD MIG-5 protein;OTTHUMP00000028880;OTTHUMP00000064008;TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory);TIMP-3;metalloproteinase inhibitor 3;protein MIG-5;tissue inhibitor of metalloproteinase 3;tissue inhibitor of metalloproteinases 3 APPROVED protein-coding ENSG00000100234 11822 01785 136900;188826 REVIEWED 1314636 TIPARP TCDD-inducible poly(ADP-ribose) polymerase This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 3 3 3 q25.31 154815555 154847904 + 157875073 157907228 + 156392205 156424559 + 737633;1580863;6480464 12477932 12851707;15231747;16381901;15489336;15489334;14702039;11238919;11230166;11076863;20852632;15273990;16202152;16344560;18762178;23544013;21963094;23535730 25976 C9JXM5;G5E9W1;H7C5K7;Q05BQ2;Q7Z3E1 ABBA01058839;AC092927;AC106708;AK097785;AK291261;AL080156;AMYH01013600;BC034397;BC050350;BX537965;CH471052;CR749647;DB033700;NM_001184717;NM_001184718;NM_015508 AAH34397;AAH50350;BAF83950;CAB45747;CAD97929;CAH18441;CAL38311;EAW78725;EAW78726;EAW78727;EAW78728;NP_001171646;NP_001171647;NP_056323;Q7Z3E1 Hs.744050 1674488;1704118;1740035;2138930;2138932;2169812;2218096;5494088 A005R03;A006S42;AU046517;D3S3312;D3S3497;G20428;SHGC-79733;TIPARP_3566 ARTD14;DDF1;DKFZp434J214;DKFZp686N0351;DKFZp686P1838;FLJ40466;PARP-1;PARP-7;PARP7;pART14 ADP-ribosyltransferase diphtheria toxin-like 14;OTTHUMP00000213213;OTTHUMP00000213214;OTTHUMP00000213215;OTTHUMP00000213216;OTTHUMP00000213217;OTTHUMP00000213218;TCDD-inducible poly [ADP-ribose] polymerase;poly [ADP-ribose] polymerase 7 APPROVED protein-coding ENSG00000163659 23696 18192 612480 REVIEWED 1349388 TINCR tissue differentiation-inducing non-protein coding RNA This locus is inferred to be non-protein-coding based on the observations that a) there is no homology support for predicted open reading frames; and b) the location of the longer predicted open reading frame renders the transcript a candidate for nonsense-mediated decay (NMD) as the stop codon is >50 nucleotides upstream of the terminal splice site. [provided by RefSeq, Feb 2009] 19 19 19 p13.3 5495533 5505358 - 5509176 5519039 - 5558178 5568005 - 6480464 16303743;15498874;15489334;12477932;23201690 257000 Q9NPR7 ABBA01056005;AC011533;AF370401;AK075215;AMYH01009361;AMYH01009362;AMYH01009363;BC036545;BC047562;BC120980;BC120981;CH471139;CQ783870;NR_027064 AAQ15237;BAC11478;CAF86900;EAW69168 Hs.515575 1660590;1754107;2148724;2184432;2217756;5021872;5037552 D19S1107;D8S2279;PLAC2_3734;RH35972;RH69981;SHGC-132139;sY3084 FLJ90734;LINC00036;NCRNA00036;PLAC2 APPROVED miscrna ENSG00000223573 14607 17859 615241 PREDICTED 1352792 TINAGL1 tubulointerstitial nephritis antigen-like 1 The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 1 1 1 p35.2 30311348 30322513 + 31814747 31825874 + 32042086 32053287 + 1580863;6480464 11170462;10799322;16344560;16303743;16189514;15498874;15489334;15340161;15231748;14702039;12975309;12477932;12358155;16169070;15862967;21145461;12482659 64129 B4DNS5;E7EUP2;Q9GZM7 AB050716;AB050719;ABBA01023456;AC114488;AF205436;AF236150;AF236155;AF289569;AK027839;AK074124;AK075398;AK292770;AK296322;AK298038;AK298382;AK301070;AMYH01000460;AY358421;BC009048;BC064633;BM923842;CH471059;CS051201;DA656570;NG_028164;NM_001204414;NM_001204415;NM_022164 AAG33699;AAG38876;AAG40154;AAH09048;AAH64633;AAL55753;AAQ88787;BAB18636;BAB18727;BAB55403;BAB84950;BAC11596;BAF85459;BAG59016;BAG60337;BAG60618;BAG62677;CAI72096;EAX07603;EAX07604;EAX07605;EAX07606;EAX07607;NP_001191343;NP_001191344;NP_071447;Q9GZM7 Hs.199368 5016781 SHGC-67307 ARG1;LCN7;LIECG3;TINAGRP OLRG-2;OTTHUMP00000003956;P3ECSL;TIN Ag-related protein;TIN-Ag-RP;TINAG-like 1;androgen-regulated gene 1;glucocorticoid-inducible protein 5;lipocalin 7;oxidized LDL-responsive gene 2 protein;oxidized-LDL responsive gene 2;tubulointerstitial nephritis antigen-like;tubulointerstitial nephritis antigen-related protein APPROVED protein-coding ENSG00000142910 19168 07122 REVIEWED 5144436 TIPARP-AS1 TIPARP antisense RNA 1 3 3 q25.31 154814310 154816853 - 156390960 156393502 - 12477932;16344560 100287227 ABBA01058839;AC092927;AMYH01013600;BC033324;BC038770;DB050614;NR_027954 APPROVED miscrna 41028 VALIDATED 1349947 TJP1P tight junction protein 1 pseudogene 16 p13.3 1421114 1421884 + 64730 ABBA01030309;AL031721;AMYH01007033;NG_032180;NG_033129 APPROVED pseudo 14167 INFERRED 1354058 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010] 14 14 q12 23778689 23781720 - 24708849 24711880 - 1580863;6480464;7240710 15383534;21477109;10581025;15380063;12768206;15741234;15133513;18443218;16880378;18669893;16166375;19229133;19090550;18252230;16344560;15632001;15489334;15316005;15292264;15231715;15181449;14715659;14702039;12835755;12530079;12477932;11938440;10850490;8125298;16169070;20404094;20127252;20560964;20979174;22885005;21209389;20811636;20301779;21731707;21355086;21536674;19487455;22064479;21199492;17962804;21988832;21044950;21981348 26277 B4DFJ1;H0YKA6;H0YKG7;H0YL20;H0YL96;H0YLC9;H0YMN3;Q86TZ8;Q9BSI4 ABBA01061339;AF195512;AK023166;AK225379;AK294119;AK315084;AL096870;AMYH01005611;BC005030;BC019343;BM549897;BX161478;CH471078;DA053760;EU851975;NG_016650;NM_001099274;NM_012461 AAF18439;AAH05030;AAH19343;ABM84316;ABM87710;ACF17559;BAB14440;BAG57452;CAD61933;EAW66048;EAW66049;EAW66050;NP_001092744;NP_036593;Q9BSI4 Hs.496191 1771714;1796950;2139530;2167871;2169267;2169680;5015961;5022578;5037552;5109281 2088;A002H47;D15S1477;D1S1423;D1S1425;D8S2279;G17788;G35856;RH181;TINF2_1551 DKCA3;TIN2;TIN2L (TRF1)-interacting nuclear factor 2 variant 1;TERF1-interacting nuclear factor 2;TRF1-interacting nuclear protein 2 APPROVED protein-coding ENSG00000092330 11824 16056 268130;604319;613990 REVIEWED 1606275 TIPIN TIMELESS interacting protein 15 15 15 q22.31 43519139 43539060 - 64416062 64436108 - 66629008 66649054 - 6480464 21139048;17102137;17296725;17141802;17116885;12875843;12477932;11256614;8889548;21490103;19615732;20124417;20174623;20233725;23511638;21832049;18029348;20360068;21890473;23359676;22505724 54962 G8JLE5;H3BQ83;H3BTH1;H3BU04;H3BVG9;Q9BVW5 ABBA01038826;ABBA01038827;ABBA01038828;AC055855;AK000523;AK299233;AMYH01006721;BC000870;BK001386;BU596053;BU688750;CH471082;EU551725;NM_017858 AAH00870;ACB21044;BAA91229;BAG61265;DAA01365;EAW77762;EAW77763;NP_060328;Q9BVW5 Hs.744308 1650756;5022578;5022651 D11S2921;D1S1423;RH48847 FLJ20516 CSM3 homolog;OTTHUMP00000164244;TIMELESS-interacting protein protein-coding 30750 16917 610716 VALIDATED 1605834 TIPRL TIP41, TOR signaling pathway regulator-like (S. cerevisiae) TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010] 1 1 1 q23.2 141257154 141280335 + 166414795 166437976 + 168148171 168171352 + 6480464 17353931;19064610;17384681;12761501;12477932;16085932;21145461;19536175;21832049;22841785;22939629;21139048;21890473;21906983;21963094;22443683;23000965;23349634;22505724 261726 O75663 AB097034;ABBA01047232;ABBA01047233;ABBA01047234;AI167356;AK313520;AL021397;AL049670;AMYH01001485;BC009506;BX431957;CH471067;NM_001031800;NM_152902 AAH09506;BAC77387;BAG36300;CAB41244;EAW90820;EAW90821;NP_001026970;NP_690866;O75663 Hs.209431 1699898;1847604 D1S2566;RH103557 MGC3794;RP1-69E11.1;TIP;TIP41;dJ69E11.3 CG9578-like;OTTHUMP00000032581;OTTHUMP00000032582;TIP41, TOR signalling pathway regulator-like;TIP41-like protein;putative MAPK activating protein;putative MAPK-activating protein PM10;type 2A-interacting protein;yeast YPR037W and worm C02C2.6 predicted proteins-like APPROVED protein-coding ENSG00000143155 30231 14608 611807 VALIDATED 1322402 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 11 11 q24.2 125658192 125670038 + 126152982 126164828 + 5685014;6480464;6907045;7240710 21235323 11544529;12721283;15276183;12447442;14625308;16024789;19509334;19505919;19456234;19317913;18987746;18810425;18417424;18369480;18305471;18180278;18070880;17610834;17538633;17322885;17161867;16991088;16751103;16439361;16284379;15489334;15247281;15187145;15123841;14630816;14530355;12565889;12477932;12083783;11526399;11572860;19913121;20577092;20588308;20628086;20797905;12724322;14517278;15004556;16415872;16968706;18292575;19120490;19509286;19543401;19574958;19592497;19602285;19627277;19693265;19948740;20016852;20164415;20188863;20196868;20237496;20525286;20804371;21398611;21399862;18438411;21118491;21048031;12062447;15294994;16301656;18583567;21873236;17258210;18221795;20048342;21457584;22970235;21324962;21705416;23460645;22683004;21829704;19378034;21218381;21419702;21903422;21899704;20400509;20448286;20822478;22221660;22593572;23297396;23002119;23382074;21988832;23255565;22685567 114609 F5H2K1;P58753 AB446477;ABBA01031224;AF378129;AF406652;AF410783;AK124298;AK313147;AMYH01004111;AP001318;AY282416;AY576785;AY576786;AY576787;BC032474;CH471065;NG_011523;NM_001039661;NM_148910 AAH32474;AAL01160;AAL05036;AAL05627;AAP31973;AAT90417;AAT90418;AAT90419;ABM81914;ABM85090;BAG35965;BAG54027;BAG55254;EAW67687;EAW67688;EAW67689;NP_001034750;NP_683708;P58753 Hs.537126 1667167;1690358;5022578 D1S1423;RH45313;RH91927 BACTS1;FLJ42305;Mal;MyD88-2;wyatt MyD88 adapter-like protein;OTTHUMP00000179130;OTTHUMP00000179131;OTTHUMP00000179132;Toll-like receptor adaptor protein;adapter protein wyatt;adaptor protein Wyatt;toll/interleukin-1 receptor domain-containing adapter protein 1643548;2289174 SADIPOQ10_H;SADIPOQ7_H APPROVED protein-coding ENSG00000150455 17192 606252;607948;610799;611162;614382 REVIEWED 1345157 TKCR torticollis, keloids, cryptorchidism and renal dysplasia 7240710 6132873 7085 11833 1318637 TJAP1 tight junction associated protein 1 (peripheral) This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009] 6 6 6 p21.1 44996876 45025915 + 43553289 43582269 + 43445261 43474294 + 6480464 19322201;15263016;16344560;15489334;15302935;14702039;14574404;12477932;11602598;8125298;22939629;18029348 93643 E2QRK7;H0Y4D6;Q5JTD0 ABBA01050680;AJ420477;AK024269;AK074241;AK094907;AK123398;AK127338;AK225787;AK307483;AK308866;AK309119;AL117398;AL355802;AL359813;AMYH01016314;BC046239;BC064401;CH471081;CR749480;DA018836;DA051961;DA098538;DA297698;DA415818;NM_001146016;NM_001146017;NM_001146018;NM_001146019;NM_001146020;NM_080604;NR_027394 AAH46239;AAH64401;BAB14867;BAG52952;BAG54486;CAH18308;CAI46221;EAX04192;EAX04193;EAX04194;EAX04195;EAX04196;EAX04197;EAX04198;EAX04199;EAX04200;EAX04201;NP_001139488;NP_001139489;NP_001139490;NP_001139491;NP_001139492;NP_542171;Q5JTD0 Hs.520145 1674250;1766677;2109959;2170815 D6S2126;SGC35031;SHGC-149964;TJP4__5267 DKFZp686F06131;PILT;TJP4 OTTHUMP00000016453;OTTHUMP00000016454;OTTHUMP00000016455;OTTHUMP00000016456;OTTHUMP00000224080;protein incorporated later into tight junctions;tight junction protein 4 (peripheral);tight junction-associated protein 1 APPROVED protein-coding ENSG00000137221 17949 10269 612658 REVIEWED 1319483 TJP3 tight junction protein 3 The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012] 19 19 19 p13.3 3665215 3688325 + 3679374 3701682 + 3708335 3750811 + 1580863;6480464 15057824;14702039;12477932;12021270;11557048;10601346;10575001;9531559;19807924;21411630;18823282;16344560;8889548 27134 B3KR73;F5H2X0;F5H4S9;K7EJ86;K7ESC0;O95049 ABBA01002835;ABBA01002836;ABBA01002837;ABBA01002838;ABBA01002839;ABBA01002840;ABBA01002841;AC005954;AC006125;AK027292;AK091118;AK128237;AK304462;AL555606;AMYH01009317;BC108906;BC108907;BI547657;BM981999;CH471139;DB079164;NM_001267560;NM_001267561 AAC72274;AAI08907;AAI08908;BAB55020;BAG52285;BAG54652;BAG65278;EAW69292;EAW69293;NP_001254489;NP_001254490;O95049 Hs.25527 1652853;1698940;2109047 APBA3_8956;RH103039;RH78751 MGC119546;ZO-3;ZO3 tight junction protein 3 (zona occludens 3);tight junction protein ZO-3;zona occludens 3;zona occludens protein 3;zonula occludens protein 3 APPROVED protein-coding ENSG00000105289 11829 18194 612689 REVIEWED 1314849 TJP1 tight junction protein 1 This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 15 15 q13 27779648 27901998 - 29992356 30114706 - 1580863;2325135;2325131;2317627;2325141;2325133;2325150;2325136;2325139;2325128;2325127;2325137;2325138;2325030;6480464;6484113;6907045 19374856;19712057;19390485;18197414;19653339;16567508;19319146;18587491;19889224;19929946;18854840;18848892;19184677 8486731;16427635;19332538;19199833;19017653;19017651;18922801;18802961;18649178;18636092;18562690;18474622;18418437;18386163;18162065;18056766;18029348;17962811;17928286;17760848;17541973;17509776;17259442;17243118;17217619;17118974;17081983;17039425;16909128;16891661;16737969;16637659;16344560;16140936;15855653;15622522;15540229;15500294;22711802;15489334;15456900;15183511;14628289;12953056;12881224;12865409;12808048;12808044;12742348;12725331;12708492;12578837;12488461;12477932;12169098;12154091;12152786;12064592;12064590;12023291;11734628;11700038;11590321;11557048;11489913;11292600;11228248;11060040;11042084;11018051;10966866;10862698;10856295;10613913;10601346;10575001;10334923;10026224;9792688;9792678;9707407;9611137;9531559;9214391;9110174;8825647;8619474;8395056;7798316;7682777;7542259;1590354;15977641;18591668;12639940;18662404;11257119;20562859;20808826;20850437;15054114;16944923;18315903;18823282;19615732;19639579;19661441;19784548;19885549;19885626;20150971;20200156;20200207;20576493;20930113;21342646;21129259;21240187;19954602;16508013;21536752;21387411;21454477;21411628;14757759;19840438;21486949;23553632;22939629;20003786;20723289;21785870;20360068;21965684;21832836;22586326;22745667;21732359;21965293;22245583;19071123;21139048;21890473;21906983;21857898;21872657;22219277;21963094;22931549;23000965;22030391;22334078;22064657;22673509;19322201;18502210;22898551;23220562;23151788;15834686;23241943;23291589;23398456;21764691;18003888;18329007;18569453;18574677;18667611;18941231;20624003;21641584;21764480;21858117;22591361;22671591;22808170 7082 G3V1L9;G5E9E7;H0Y3R8;H0YKB1;H0YLT6;J3QKQ9;Q07157;Q6MZU1 AB370197;ABBA01010400;ABBA01010401;AC022613;AF035298;AF169196;AK302971;AK304758;AK308113;AMYH01006502;BC036090;BC111712;BX640879;CH471205;CR749235;DA752892;DQ015919;NM_003257;NM_175610 AAG43399;AAI11713;AAY22179;ACE86704;ACE87388;BAF95000;BAG64116;BAG65513;CAE45936;CAH18091;EAW51506;EAW51507;EAW51508;EAW51509;EAW51510;NP_003248;NP_783297;Q07157 Hs.743990 1647550;1776512;1789234;1796952;2113846;2135900;2150026;2156272;2179182;2186557;5121287 A004N26;G10656;G65615;RH48761;SGC32975;SHGC-31313;STS-L14837;TJP1;TJP1_732;WI-20235;WIAF-2543 DKFZp686M05161;MGC133289;ZO-1 OTTHUMP00000174520;OTTHUMP00000174522;tight junction protein 1 (zona occludens 1);tight junction protein ZO-1;zona occludens 1;zona occludens protein 1;zonula occludens 1 protein;zonula occludens protein 1 APPROVED protein-coding ENSG00000104067 11827 03002 601009 VALIDATED 1319538 TK2 thymidine kinase 2, mitochondrial This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012] 16 16 q22-q23.1 65100846 65141816 - 66541906 66584315 - 1358594;1580863;6480464;6907045;7240710 12873860 9079672;19265691;19154348;18508266;18446447;18265975;18021809;17913703;17468435;17065084;16969512;16344560;15639197;15907288;14659972;12687391;12682338;12493767;12477932;12391347;11687801;9989599;9598140;1597187;605384;22661713;19736010;19878914;20237496;20877624;21382338;23230576;21937588 7084 A4IF54;A5PLM0;B4DIW4;B4DZK7;B4E0Z4;E5KNQ5;F5GYK4;H3BP77;H3BV57;J3KS73;J3KSZ2;J3QL12;J3QRP0;O00142;Q8IZR3 AB472397;ABBA01025408;AC010542;AF521891;AK026021;AK026041;AK294627;AK295808;AK302976;AK303590;AK316226;AL038860;AMYH01007739;BC029263;BC040667;BC113928;BC134344;BC142970;CH471092;DA500158;NG_016862;NM_001172643;NM_001172644;NM_001172645;NM_001271934;NM_001271935;NM_001272050;NM_004614;NR_073520;U77088;U80628;Y10498 AAC51167;AAC51168;AAI34345;AAI42971;AAN73847;BAG57808;BAG58626;BAG64119;BAG64606;BAH14597;CAA71523;EAW83013;EAW83014;EAW83015;EAW83016;EAW83017;NP_001166114;NP_001166115;NP_001166116;NP_001258863;NP_001258864;NP_001258979;NP_004605;O00142 Hs.512619 1667044;1679788;1684078;1685027;1738827;2146580;2187554 D16S2884;RH65134;RH65267;RH68517;RH94378;SHGC-60678;SHGC-60758 MTDPS2;MTTK OTTHUMP00000174784;OTTHUMP00000228848;OTTHUMP00000228849;OTTHUMP00000228850;mt-TK;thymidine kinase 2, mitochondrial;thymidine kinase 2; thymidine kinase 2, mitochondrial APPROVED protein-coding ENSG00000166548 11831 01770 188250;609560 REVIEWED 733146 TJP2 tight junction protein 2 This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] 9 9 q13-q21 70978909 71059940 + 71736180 71870124 + 734629;1600163;1580863;6480464;6907045;7240710 12704386;17234953 17353931;18029348;19342771;19148554;18224337;17217619;17081983;16964243;16381901;15592455;15570572;15489336;15489334;15324660;15302935;15164053;15144186;14515355;14512431;12829691;12645256;12477932;12403786;12152786;12023291;11855865;11598001;11076863;11042084;11018256;10966866;10874042;10613913;10601346;10575001;10495427;10360833;10026224;9458817;7951235;7542259;15977641;16697675;19019082;9792688;15778465;8824195;20562859;20850437;20868680;20602916;20868367;15054114;15768832;15975580;16344560;19380416;19418635;19538295;19615732;19784548;16159877;21679692;18823282;22863883;22939629;22586326;19071123;21139048;21890473;21906983;21685940;22044751;22731716;18003888;18569453;18667611;21641584;22591361;22671599;22094256;23396134 9414 B1AN85;B1AN86;B7Z2R3;B7Z954;Q5VXL1 AA724570;ABBA01033802;ABBA01033803;ABBA01033804;ABBA01033805;AF083892;AF083893;AF177518;AF177519;AF177520;AF177521;AF177522;AF177523;AF177524;AF177525;AF177526;AF177527;AF177528;AF177529;AF177530;AF177531;AF177532;AF177533;AF489824;AI738923;AK025185;AK295016;AK295034;AK302483;AK304447;AK307697;AK308564;AL162730;AL358113;AL590238;AMYH01021384;BC027592;BC028426;CH471089;CX865985;DA270962;DB090695;DB196171;DC325189;L27476;NG_016342;NM_001170414;NM_001170415;NM_001170416;NM_001170630;NM_004817;NM_201629;U84581 AAA61300;AAB41794;AAC02527;AAC33121;AAC33122;AAD20387;AAD56218;AAD56219;AAH27592;AAM28524;BAH11949;BAH11954;BAH13722;BAH14190;CAL37567;CAL37590;CAL37681;CAL37845;EAW62476;EAW62477;EAW62478;EAW62479;EAW62480;NP_001163885;NP_001163886;NP_001163887;NP_001164101;NP_004808;NP_963923;Q9UDY2 Hs.50382;Hs.736223 1686991;1712288;1732403;1732435;1758475;1760227;1767512;1853292;2138795 D9S1716;D9S744E;D9S886;G54053;RH39762;SGC30152;SHGC-132518;SHGC-148426;SHGC-34170 C9DUPq21.11;DFNA51;DUP9q21.11;MGC26306;X104;ZO-2;ZO2 Friedreich ataxia region gene X104 (tight junction protein ZO-2);OTTHUMP00000021431;OTTHUMP00000021432;OTTHUMP00000161623;tight junction protein 2;tight junction protein ZO 2;tight junction protein ZO-2;zona occludens 2;zona occludens protein 2;zonula occludens protein 2 APPROVED protein-coding ENSG00000119139 11828 06369 607709;607748 REVIEWED 2292702 TLCD2 TLC domain containing 2 17 17 17 p13.3 1621786 1629366 - 1557814 1560921 - 1606084 1613662 - 6480464 16793762;16625196 727910 A6NGC4 ABBA01054671;AC130343;AK000038;AMYH01008004;CH471108;NM_001164407 A6NGC4;EAW90587;NP_001157879 Hs.531005 1662359;2175687;5015861;5016478;5020948;5021872;5022200;5022463;5022578;5022651;5037552;5117897;7185938 D10S16;D11S2921;D1S1423;D3S1673;D8S2279;G35510;GDB:434012;GDB:631813;L18426;RH12131;WI-17501;sY3084 OTTHUMP00000209151;TLC domain-containing protein 2 protein-coding 33522 VALIDATED 736473 TK1 thymidine kinase 1, soluble 17 17 q23.2-q25.3 73681755 73694880 - 76170160 76183285 - 1580863;2317243;2317242;2317237;6480464;6907045 11474248;10883887;15583816 21545220;2026611;3335503;19396699;19123476;19087190;18615770;17407781;17227951;17065087;16969512;16964243;16169070;15978330;15809747;15733844;15611477;15489334;15353126;15153115;14719072;14701726;14697231;14659972;12699056;12477932;12449723;11992400;11389691;10924519;9575153;8786092;6549046;3785218;3301530;3128713;2538159;2263164;1848304;1370831;22385435;22263569;19913121;20544518;20544519;20554529;20628086;19957115;20140744;19282758;19654105;20003201;20372850;20592392;20560637;20849417;20354751;20450760;20479645;23116493;21764789;21832049;21139048;21505426;21900206;21906983;22027876;22143937;19738201;21890473;21963094;21988832;23000965;23179401;23229746;22741536 7083 K7ENW5;K7ERJ1;K7ERV3;K7ES52;P04183 AA633286;AB451268;AB451395;ABBA01002941;AC021593;AC087645;AK314950;AMYH01008664;AW183491;BC006484;BC007872;BC007986;BI754079;BT006941;CH471099;K02581;M13643;M15205;NM_003258 AAA61187;AAA61189;AAA61191;AAH06484;AAH07872;AAH07986;AAP35587;BAG37455;BAG70082;BAG70209;EAW89505;EAW89506;EAW89507;EAW89508;NP_003249;P04183 Hs.515122 1663099;1741169;1741375;1744963;1791804;1792316;1793878;2135072;2190845 G06495;GDB:178395;GDB:180945;GDB:583421;PMC126057P2;PMC140776P1;PMC303366P4;RH11430;TK1 TK2 OTTHUMP00000198229;thymidine kinase 1;thymidine kinase 1 soluble isoform;thymidine kinase, cytosolic;thymidine kinase-1 protein-coding ENSG00000167900 11830 01771 188300 VALIDATED 1602658 TLCD1 TLC domain containing 1 17 17 17 q11.2 23910529 23913112 - 24075503 24077353 - 27051366 27053949 - 6480464 12477932;12151215;21139048 116238 A8MYP9;K7ELX5;K7ESD9;Q96CP7 ABBA01015048;AC010761;AMYH01008282;AMYH01008283;BC014072;BF478215;BX106421;CA453962;CH471159;NM_001160407;NM_138463 AAH14072;ACE86593;ACE87274;ADZ15867;EAW51133;EAW51134;NP_001153879;NP_612472;Q96CP7 Hs.499952 1690748;2147850;2175895 G28287;RH78645;SHGC-56895 OTTHUMP00000163534;OTTHUMP00000163535;TLC domain-containing protein 1 protein-coding ENSG00000160606 25177 14015 VALIDATED 1351621 TKTL1 transketolase-like 1 The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] X X q28 153177345 153211894 + 153524027 153558713 + 1580863;6480464;6907045 8838793;19065656;18686341;18615628;18550470;18394773;18302154;17321041;16969476;16465194;16381901;16344560;15991799;15772651;15489336;15489334;12477932;11256614;11076863;20592357;20385008;19331662;19419973;19655166;20103683;20884117;20200485;20596653;22803947;22445516;20826743;21980427;23130932;21854597;22027741;23261987;23118983;23446634;22658715 8277 A2ID95;B7Z7I0;B7Z7M4;F8WF97;H0Y808;P51854;Q5TYJ8 ABBA01045295;ABBA01045296;ABBA01045297;ABBA01045298;ABBA01045299;ABBA01045300;ABBA01045301;ABBA01045302;ABBA01045303;ABBA01045304;AC245140;AK292224;AK292261;AK301724;AK302044;AK302261;AMYH01023315;BC025382;BG718121;BX664723;CH471172;DA505601;DB524246;NG_028264;NM_001145933;NM_001145934;NM_012253;U14622;X91817;X91818;Z49258 AAA21557;AAH25382;ABM81738;ABM84893;BAF84913;BAF84950;BAH13542;BAH13616;BAH13660;CAA62925;CAH69899;CAH69900;CAL37456;CAL38410;CAM13053;CAM13054;EAW72749;EAW72750;EAW72751;EAW72752;EAW72753;NP_001139405;NP_001139406;NP_036385;P51854 Hs.102866 1694286;1747695;1747697;1787396;1800310;1800550;1803002;1807958;1808376;1808510;1808948;1814344;1814554;1815152;1815154;1815688;1817282;1818080;1819718;1820214;1821052;1821724;1821936;1822456;1823122;1825436;1825596;1829454;1834822;1839016;1843352;1844452;2036116;2036118;2036120;2036122;2036124;2036126;2036128;2036130;2036132;2036134;2036136;2036138;2036140;2036142;2036144;2036146;2036148;2036150;2036152;2036154;2036156;2036158;2036160;2036162;2036164;2036166;2036168;2036170;2036172;2036174;2036176;2036178;2036180;2036182;2036184;2036186;2036188;2036190;2036192;2036194;2036196;2036198;2036200;2036202;2036204;2036206;2036208;2036210;2036212;2036214;2036216;2036218;2036220;2036222;2036224;2036226;2036228;2036230;2036232;2036234;2036236;2036238;2036240;2036242;2036244;2036246;2036248;2036250;2036252;2036254;2036256;2036258;2036260;2036262;2036264;2036266;2036268;2036270;2036272;2036274;2036276;2036278;2036280;2036282;2036284;2036286;2036288;2036290;2036292;2036294;2036296;2036298;2036300;2036302;2036304;2036306;2036308;2036310;2036312;2036314;2036316;2036318;2036320;2036322;2036324;2036326;2036328;2036330;2036332;2036334;2036336;2036338;2036340;2036342;2036344;2036346;2036348;2036350;2036352;2036354;2036356;2036358;2036360;2036362;2036364;2036366;2036368;2036370;2036372;2036374;2036376;2036378;2036380;2036382;2036384;2036386;2036388;2036390;2036392;2036394;2036396;2036398;2036400;2036402;2036404;2036406;2036408;2036410;2036412;2036414;2036416;2036418;2036420;2036422;2036424;2102396;2102398;2102400;2102402;2102404;2102406;2102408;2102410;2102412;2102414;2102416;2102418;2102420;2102422;2102424;2102426;2102428;2102430;2170115 ECD01013;ECD01135;ECD02392;ECD04957;ECD05169;ECD05237;ECD05457;ECD08201;ECD08307;ECD08610;ECD08611;ECD08882;ECD09691;ECD10096;ECD10929;ECD11181;ECD11603;ECD11948;ECD12054;ECD12316;ECD12649;ECD13825;ECD13906;ECD15858;ECD18559;ECD20687;ECD22884;ECD23440;G42838;G66672;G66673;REN89067;REN89068;REN89069;REN89070;REN89071;REN89072;REN89073;REN89074;REN89075;REN89076;REN89077;REN89078;REN89079;REN89080;REN89081;REN89082;REN89083;REN89084;REN89085;REN89086;REN89087;REN89088;REN89089;REN89090;REN89091;REN89092;REN89093;REN89094;REN89095;REN89096;REN89097;REN89098;REN89099;REN89100;REN89101;REN89102;REN89103;REN89104;REN89105;REN89106;REN89107;REN89108;REN89109;REN89110;REN89111;REN89112;REN89113;REN89114;REN89115;REN89116;REN89117;REN89118;REN89119;REN89120;REN89121;REN89122;REN89123;REN89124;REN89125;REN89126;REN89127;REN89128;REN89129;REN89130;REN89131;REN89132;REN89133;REN89134;REN89135;REN89136;REN89137;REN89138;REN89139;REN89140;REN89141;REN89142;REN89143;REN89144;REN89145;REN89146;REN89147;REN89148;REN89149;REN89150;REN89151;REN89152;REN89153;REN89154;REN89155;REN89156;REN89157;REN89158;REN89159;REN89160;REN89161;REN89162;REN89163;REN89164;REN89165;REN89166;REN89167;REN89168;REN89169;REN89170;REN89171;REN89172;REN89173;REN89174;REN89175;REN89176;REN89177;REN89178;REN89179;REN89180;REN89181;REN89182;REN89183;REN89184;REN89185;REN89186;REN89187;REN89188;REN89189;REN89190;REN89191;REN89192;REN89193;REN89194;REN89195;REN89196;REN89197;REN89198;REN89199;REN89200;REN89201;REN89202;REN89203;REN89204;REN89205;REN89206;REN89207;REN89208;REN89209;REN89210;REN89211;REN89212;REN89213;REN89214;REN89215;REN89216;REN89217;REN89218;REN89219;REN89220;REN89221;SHGC-172421;SHGC-58084;stSG603936;stSG603939;stSG603940;stSG603941;stSG603942;stSG603943;stSG603944;stSG603945;stSG603946;stSG603947;stSG603948;stSG603950;stSG603955;stSG603956;stSG603957;stSG603958;stSG603959;stSG603960 TKR;TKT2 OTTHUMP00000024307;OTTHUMP00000024308;TK 2;transketolase 2;transketolase-2;transketolase-like protein 1;transketolase-related protein APPROVED protein-coding ENSG00000007350 11835 02080 300044 REVIEWED 4891172 TLE1P1 transducin-like enhancer of split 1 pseudogene 1 X X X q12 64974781 64975365 + 64544475 64545910 + 64627957 64628541 + 645381 ABBA01067007;AMYH01022499;NG_022665;Z83841 1729361 G64103 pseudo 39438 INFERRED 1604771 TKTL2 transketolase-like 2 4 4 4 q32.2 161724510 161727310 - 164611697 164614497 - 164392247 164395047 - 6907045 11256614;16381901;16344560;16189514;15489336;14702039;12477932;11230166;11076863;20800603 84076 Q96LZ0;Q9H0I9 ABBA01070272;AC093788;AK057325;AK057537;AK098582;AK314517;AL136779;AL834334;AMYH01014665;BC028707;BC125101;BC142943;CH471056;CR533560;DB095901;HC006918;NM_032136 AAH28707;AAI25102;AAI42944;AAI43054;AAI43055;AAI46699;BAB71427;BAB71524;BAG37115;CAB66713;CAD39002;CAG38591;CAL37955;CBH19264;EAX04838;NP_115512;Q9H0I9 Hs.303923 DKFZp434L1717;FLJ32975 OTTHUMP00000220340;transketolase-like protein 2 protein-coding ENSG00000151005 25313 13159 VALIDATED 1348581 TLDC2 TBC/LysM-associated domain containing 2 20 20 20 q11.23 32212079 32230180 + 34937984 34956046 + 35504570 35522632 + 12477932 140711 A0PJX2;A2A2J3 ABBA01006597;AK123544;AL079335;AMYH01011887;BC127688;BC130646;BC130648;CH471077;NM_080628 A0PJX2;AAI27689;AAI30647;AAI30649;ADR83506;BAG53910;EAW76092;EAW76093;NP_542195 Hs.472630 1650798;1652559;1666705;1857030;2109797;2118876 A005D07;RH45857;RH48138;SAMHD1_9434;WI-11878;WI-16154 C20orf118;dJ132F21.2 OTTHUMP00000178799;TBC/LysM-associated domain-containing protein 2;TLD domain containing 2;TLD domain-containing protein 2;hypothetical protein LOC140711;uncharacterized protein C20orf118 APPROVED protein-coding ENSG00000101342 16112 18554 PROVISIONAL 732645 TKT transketolase This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] 3 3 p14.3 53234704 53264998 - 53258723 53290130 - 724769;1599574;1580863;1300048;1641798;1641814;1580394;6480464;6907045;7240710 1567394;2843500;9924800;12721358;16116031 8125298;17353931;9357955;8419340;19110265;18676363;16916647;16289162;15952740;15592455;15489334;15302935;14702039;12665801;12477932;11736629;9611778;9115179;8969223;8850526;2495942;1486804;20562859;20667822;20471030;16712791;21076409;21145461;21319273;20826743;21555518;22939629;16196087;18029348;20000738;17623298;18781797;20360068;21081666;21139048;21890473;21906983;21963094;21987572;16009940;21044950;22536838;23261987;19738201;19805454;21150319;22053931;23000965;23118983;22645655;22505724;22944692 7086 B4E022;E9PFF2;F8W888;F8WAX4;P29401 ABBA01024484;ABBA01024485;ABBA01024486;ABBA01024487;ABBA01024488;ABBA01024489;AC097015;AK057092;AK092084;AK093667;AK223614;AK289454;AK293438;AK301231;AK303191;AK309482;AMYH01013191;BC002433;BC008615;BC009970;BC024026;BE504944;BQ430230;BX647248;BX649193;CA421169;CB139769;CH471055;DB503248;DC406010;L12711;NG_027815;NM_001064;NM_001135055;NM_001258028;NR_047580;U55017;X67688 AAA61222;AAA98961;AAH02433;AAH08615;AAH09970;AAH24026;ABM84004;ABW03565;BAD97334;BAF82143;BAG51860;BAG52746;BAG56942;BAG62803;BAG64284;CAA47919;CAE46212;EAW65281;EAW65282;NP_001055;NP_001128527;NP_001244957;P29401 Hs.89643 1686808;1764089;2162502;2191021;5126789 MARC_13462-13463:1002299004:1;RH79674;SHGC-147747;SHGC-57226;WI-18916 FLJ34765;TK;TKT1 OTTHUMP00000212664;OTTHUMP00000212667;OTTHUMP00000212668;TK;transketolase APPROVED protein-coding ENSG00000163931 11834 06001 271665;606781 REVIEWED 1605650 TLDC1 TBC/LysM-associated domain containing 1 16 16 16 q24.1 68812050 68840421 - 83068608 83095794 - 84509966 84538288 - 6480464 16189514;14702039;12477932;10997877;8889549;8889548;19060904;16712791;22939629;21906983 57707 A8K5C2;F5GWS3;H3BM75;H3BPI4;H3BQ13;H3BTC5;H3BUB0;Q6P9B6 AA115393;AB046829;ABBA01016911;AC022165;AK021995;AK291237;AK297241;AK300132;AK310887;AL137316;AMYH01007869;AV718305;BC023251;BC060844;BG748167;BI767086;BM674034;BM676714;BM715013;BM715579;BM922004;BQ009692;BU955954;CB160601;CH471114;NM_020947 AAH23251;AAH60844;BAB13435;BAF83926;BAG59721;BAG61921;CAB70693;EAW95478;EAW95479;EAW95480;NP_065998;Q6P9B6 Hs.288274 1710228;2157276;2158956;5014063;5022651;5024761;5118877 D11S2921;D11S3745;D15S1390;D2S2888;RH36905;SHGC-83748;STS-AA029429 KIAA1609;MGC25024 TBC/LysM-associated domain-containing protein 1;TLD domain containing 1;TLD domain-containing protein 1;TLD domain-containing protein KIAA1609;hypothetical protein LOC57707 APPROVED protein-coding 29325 13877 VALIDATED 3207461 TLK1P1 tousled-like kinase 1 pseudogene 1 9 9 9 q33.2 96096537 96099028 + 124488040 124490531 + 125448219 125450710 + 100129793 ABBA01043717;AL162254;AMYH01021694;NG_021465 TLK1P;TLK1ps pseudo 28608 INFERRED 1319465 TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 9 9 q21.32 83388418 83493416 - 84198598 84303596 - 1580863;6480464 9751710;8687460;8365415;8808280;1303260;19250647;18713067;18611861;18519670;18258796;17680780;17255769;16169070;16166252;15768032;15489334;15187083;15164053;14651967;12477932;12441302;12397081;12391155;12057191;12030375;11748221;11731482;11551980;11238932;10748198;10660609;10209158;9887105;9874198;9854018;9334241;8713081;17353931;21319215;15006356;16571670;19101520;16002402;19363472;19809272;19956621;20160071;20379614;20181723;17041588;20211142;20844743;21890473;21988832;22053931;22439931;22952044;21699783;22354967;22589738;21536917;21900206;21666599;22745009 7088 Q04724;Q5T3G2;Q5T3G3;Q5T7A9 AB209854;ABBA01033971;ABBA01033972;ABBA01033973;ABBA01033974;ABBA01033975;AK290860;AK293606;AK304565;AL353682;AL365190;AMYH01021445;AY129016;BC000228;BC010100;BC015747;CH471089;M99435;NM_005077 AAA61192;AAH10100;AAH15747;AAM98759;ABM84199;ABM87603;ACE86540;ACE87220;BAD93091;BAF83549;BAG57070;BAG65357;EAW62636;EAW62637;NP_005068;Q04724 Hs.197320;Hs.689805 1645181;1664775;1703352;1722281;1736692;1778901;1798278;2120111;2182028;2189441;5015881;5019070;5020946;5022200;5037554 A001X07;D1S2077E;D8S2282;G44334;G60053;GDB:335751;L17971;L18426;MARC_6203-6204:992007078:5;SHGC-57364;SHGC-68608;TLE1_1890;WI-11585;WI-12646;WIAF-2165 ESG;ESG1;GRG1 OTTHUMP00000022733;e(Sp1) homolog;enhancer of split groucho 1;enhancer of split groucho-like protein 1;transducin-like enhancer of split 1, homolog of Drosophila E(sp1);transducin-like enhancer protein 1 protein-coding ENSG00000196781 11837 02557 600189 PROVISIONAL 1625821 TLK2P1 tousled-like kinase 2 pseudogene 1 17 17 17 q12 29275298 29278737 - 29387813 29401116 - 32363723 32367162 - 646202 ABBA01011210;AC123769;AMYH01008349;NG_006102;NG_029763 1680918;1682221;2108573;5093708 G32877;RH28431;RH67569;TLK2_8170 TLK2ps1 pseudo 18048 INFERRED 1625805 TLK2P2 tousled-like kinase 2 pseudogene 2 10 10 10 p11.1 37878322 37880698 - 38147540 38149916 - 38107534 38109910 - 553121 ABBA01033296;AL135791;AMYH01002259;NG_006100 TLK2ps2 pseudo 22227 INFERRED 733230 TLE4 transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 9 9 9 q21.31 52764232 52919003 + 81376698 81531478 + 82186878 82341656 + 1580863;6480464 1303260;18258796;17060451;15302935;15164053;14702039;12477932;12153506;10574462;8365415;10811620;11266540;15105370;16002402;19714205;19893608;20816195;20889853;19332113;21948523;21139048;21890473;22169276;21254220;16103132;22053931;22927467;22990118 7091 B3KQ29;E7EQH3;F8W6T6;F8W9R0;F8WAY5;G8JLG4;H0Y5S0;H7C4E4;H7C4P7;H7C4W5;O60756;Q5JSY7;Q5JSY8;Q5JSZ1;Q5JSZ2;Q9ULF9 AB033087;ABBA01033958;ABBA01033959;AF068197;AI279314;AI620368;AK057236;AK296342;AK302709;AL162059;AL353813;AL358975;AL445252;AMYH01021439;BC036369;BC045650;BC059405;BC060038;BC063695;BQ006122;CH471089;HQ283388;M99439;NM_007005;W68064 AAA61195;AAC18942;AAH45650;AAH59405;BAA86575;BAG51891;BAG59027;BAG63931;CAB82397;EAW62627;EAW62628;EAW62629;EAW62630;EAW62631;EAW62632;NP_008936;Q04727 Hs.444213 1667559;1724719;1787112;1798280;2164350;2165820;2177085 G17366;RH122563;RH44484;RH78181;SHGC-155150;STS-N23632;TLE4_2138 BCE-1;BCE1;E(spI);ESG;ESG4;GRG4 B lymphocyte gene 1;OTTHUMP00000216175;OTTHUMP00000216177;OTTHUMP00000216236;Protein BCE-1;enhancer of split groucho 4;transducin-like enhancer of split 4, e(spl) homolog (drosophila);transducin-like enhancer of split 4, homolog of Drosophila E(sp1);transducin-like enhancer protein 4 protein-coding ENSG00000106829 11840 605132 VALIDATED 1315408 TLE2 transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 19 19 19 p13.3 2931704 2981680 - 2948636 2980022 - 2997636 3047633 - 1580863;6480464 10825294;17041588;8808280;1303260;15489334;15057824;14702039;12477932;11748221;11266540;9887105;9874198;9854018;9334241;8365415;19460168;19939918;20211142;15768032 7089 B4DE62;K7EJR7;K7EK93;K7EMK7;K7EPD4;K7EPF3;K7ESD8;Q04725 ABBA01002784;ABBA01002785;ABBA01002786;ABBA01002787;ABBA01002788;ABBA01002789;ABBA01002790;ABBA01002791;ABBA01002792;ABBA01002793;AC007766;AC011549;AC093053;AK123183;AK293407;AK293482;AK303102;AK308137;AK308608;AK312285;AMYH01009295;AMYH01009296;AMYH01009297;AW262763;BC017364;CH471139;M99436;NM_001144761;NM_001144762;NM_003260 AAA61193;AAD38075;AAH17364;ADZ15545;BAG56914;BAG56973;BAG64211;EAW69348;EAW69349;NP_001138233;NP_001138234;NP_003251;Q04725 Hs.332173 1770453;1776133;2110243;2118092;5093656 A009U26;AES_7743;G32846;RH69316;STS-AA037755 ESG;ESG2;FLJ41188;GRG2 enhancer of split groucho 2;enhancer of split groucho-like protein 2;transducin-like enhancer of split 2, homolog of Drosophila E(sp1);transducin-like enhancer protein 2 protein-coding ENSG00000065717 11838 03025 601041 VALIDATED 1343822 TLE6 transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 19 19 19 p13.3 2911604 2929249 + 2928562 2946176 + 2977536 2995182 + 1580863;6480464 18551179;16344560;15489334;14702039;12477932;11486032;21988832 79816 C9J532;K7ENW8;Q6PJM9;Q9H808 ABBA01002783;ABBA01002784;AC006277;AC007766;AK024071;AK308771;AMYH01009295;BC007215;BC007329;BC013986;BC020206;BC068052;BX089956;CH471139;DA013757;DB059462;NM_001143986;NM_024760 AAD38076;AAH07215;AAH13986;AAH20206;BAB14815;EAW69350;EAW69351;EAW69352;EAW69353;NP_001137458;NP_079036;Q9H808 Hs.334507 FLJ14009;GRG6;MGC14966 OTTHUMP00000210615;OTTHUMP00000210687;OTTHUMP00000210846;transducin-like enhancer protein 6 protein-coding ENSG00000104953 30788 18195 612399 VALIDATED 1351900 TLE3 transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 15 15 15 q22 47229949 47279848 - 68127597 68177310 - 70340543 70390256 - 1580863;6480464 17220478;17353931;8808280;1303260;18273443;17081983;16964243;15489334;15302935;14702039;12477932;12441302;12397081;11238932;10997877;10748198;8365415;20181723;17577209;17041588;16055720;21832049;22863883;22939629;21139048;21890473;21666599;22194527;22050093;20881960;22053931 7090 B3KM67;B3KUA2;F5H7D6;F8W8S3;F8W964;H0YKH0;H0YKH5;H0YKN8;H0YKT5;H0YL70;H0YLI3;H0YLW9;H0YNI7;H0YNT2;H3BUH5;Q04726;Q672R2;Q6PI57;Q6PRX2 AB046767;AB209672;ABBA01038763;ABBA01038764;AC026583;AC068327;AK000083;AK001258;AK096779;AK298482;AK304459;AK315058;AMYH01006744;AY583459;AY583460;BC012004;BC015421;BC015729;BC041831;BC043247;CH471082;M99438;NM_001105192;NM_005078;NM_020908 AAA61194;AAH41831;AAH43247;AAS90945;AAS90946;BAB13373;BAD92909;BAG50879;BAG53364;BAG60692;BAG65275;EAW77848;EAW77849;EAW77850;EAW77851;NP_001098662;NP_005069;NP_065959;Q04726 Hs.287362 1683577;2135134;5127710 RH66842;RH93831;WI-10764 ESG;ESG3;FLJ39460;GRG3;HsT18976;KIAA1547 enhancer of split groucho 3;enhancer of split groucho-like protein 3;transducin-like enhancer of split 3, homolog of Drosophila E(sp1);transducin-like enhancer protein 3 protein-coding ENSG00000140332 11839 02558 600190 VALIDATED 1321237 TLK1 tousled-like kinase 1 The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 2 2 q31.1 171556814 171725206 - 171847333 172087824 - 1580863;6480464 15302935;14732354;14702039;12955071;12477932;12168954;11470414;11314006;8590280;8274451;16189514;12660173;17353931;9427565;10588641;10523312;18838128;17081983;17054786;16344560;16156902;15950181;15489334;20381954;20936779;18029348;20016786;22939629;17940067;21048794;21647934;20360068;22267201;21139048;19322201 9874 B3KRP1;C9JWT6;F8W7X8;Q9UKI8 AB004885;ABBA01014922;ABBA01014923;ABBA01014924;ABBA01014925;ABBA01014926;AC007739;AC009953;AC010092;AF162666;AF246219;AK090779;AK091975;AK292508;AK301857;AMYH01011259;AMYH01011260;BC032657;BX537631;CH471058;D50927;DA144429;DN604386;NM_001136554;NM_001136555;NM_012290;Z25421 AAF03094;AAF71263;AAH32657;AAX93162;AAY15077;ABM81830;ABM84983;BAA09486;BAA20562;BAF85197;BAG52227;BAG52453;BAG63299;CAA80908;EAX11220;EAX11221;EAX11222;EAX11223;NP_001130026;NP_001130027;NP_036422;Q9UKI8 Hs.596942 1340259;1678961;1699784;1774417;1850939;2108571;2143174;2152269;2158589;2183671;2184008;2185054;5037552 D11S4137;D2S2078;D2S2766;D8S2279;HSC2NH052;RH103499;RH25360;RH36431;RH65920;SHGC-37354;SHGC-37490;TLK1_8169;WI-18511 KIAA0137;PKU-beta OTTHUMP00000163076;OTTHUMP00000163077;OTTHUMP00000205037;OTTHUMP00000225037;SNARE protein kinase SNAK;serine threonine protein kinase;serine/threonine-protein kinase tousled-like 1 APPROVED protein-coding ENSG00000198586 11841 608438 REVIEWED 1350417 TLN2 talin 2 This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008] 15 15 q15-q21 60726802 60923883 + 62939510 63136830 + 1580863;6480464 10320934;11907066;15494027;19109932;17183545;17081983;16964243;15581353;15302935;12422220;12422219;12168954;11527381;9205841;9110174;8619474;12119179;20379614;20620133;21134644;22939629;19952892;21697133;20360068;21812955;21139048;15174051;21890473;23000965;23266827;22017400 83660 H0YMT1;H0YN01;Q9Y4G6 AB002318;AB304389;AB304390;AB304391;AB304392;AB304393;AB304394;AB304395;AB621808;ABBA01038922;ABBA01038923;ABBA01038924;ABBA01038925;AC068233;AC100839;AC103740;AF007154;AF070527;AF085910;AF402000;AK294570;AL122065;AMYH01006699;AMYH01006700;AMYH01006701;BX647654;BX648144;BX648146;CH471082;NM_015059 AAM73764;BAA20778;BAG57764;BAK64144;EAW77615;EAW77616;EAW77617;NP_055874;Q9Y4G6 Hs.569438;Hs.610975 1736514;1736516;1767173;1779700;1849465;1853778;2136421;2147389;2148601;2162339;2171772;2171774;2218830 A001V22;A002V12;D15S635E;D15S721E;D15S724E;G19684;RH47491;RH66673;RH78027;SHGC-153677;STS-R99089;TLN2__5270;WI-18550 DKFZp451B1011;DKFZp686I0976;DKFZp686K0979;ILWEQ;KIAA0320 OTTHUMP00000165050;talin-2 APPROVED protein-coding ENSG00000171914 15447 09555 607349 REVIEWED 1352317 TLR11 toll-like receptor 11 7246909 18256364 15001781 442887 31753 1343448 TLR12P toll-like receptor 12, pseudogene 1 1 1 p35.1 32203669 32206395 + 33704437 33707163 + 33931850 33934576 + 6480464 14993594;14993594;15976025;20210993 100131451 ABBA01023376;AL138837;AMYH01000481;NG_016733 APPROVED pseudo 31754 INFERRED 1348322 TLR13 toll-like receptor 13 14993594 442889 31755 1322082 TLK2 tousled-like kinase 2 The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly.[supplied by OMIM, Apr 2004] 17 17 17 q23 54943227 55080744 + 57910136 58044759 + 60556386 60692842 + 6480464 12660173;17353931;9427565;10523312;15489334;15302935;12477932;11470414;10455159;8889548;16484223;20016786;20056645;20379614;22939629;17940067;21647934;20360068;21139048;21903422;21906983;19322201 11011 J3KRK0;J3KST4;J3KT82;J3QLK5;J3QQN4;J3QR10;J3QS44;J3QS73;Q86UE8 AA430024;AB004884;ABBA01035343;ABBA01035344;ABBA01035345;ABBA01035346;ABBA01035347;ABBA01035348;ABBA01035349;ABBA01035350;AC008026;AC080038;AF162667;AI381985;AI621235;AK300586;AMYH01008547;BC013736;BC044925;BC060511;BM668399;BX647225;CH471109;NM_001112707;NM_006852 AAF03095;AAH44925;BAA20561;BAG62284;EAW94343;EAW94344;EAW94345;EAW94346;EAW94347;EAW94348;EAW94349;NP_001106178;NP_006843;Q86UE8 Hs.445078 1337712;1681728;1682221;1683669;1684979;1685011;1693512;1852812;2108573;2123549;2134819;2161146;2174994;2176141;5024567;5093708;5119300 AFM238yf8;D17S1771;D17S2036;D17S808;D7S1989;D7S2954;G32877;G36093;RH16229;RH27062;RH47409;RH67569;RH91600;SHGC-33605;SHGC-57386;SHGC-58493;TLK2_8170 HsHPK;MGC44450;PKU-ALPHA serine/threonine kinase;serine/threonine-protein kinase tousled-like 2 APPROVED protein-coding 11842 10527 608439 VALIDATED 1312462 TLL2 tolloid-like 2 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008] 10 10 10 q23-q24 91865556 92016000 - 98114356 98263658 - 98124363 98273683 - 1580863;6480464 18824173;15489334;15164054;12477932;11313359;11076863;10806368;10516436;10479448;10231032;16344560;16385451;18839057 7093 Q9Y6L7 AB023149;ABBA01021829;ABBA01021830;AF059516;AK026106;AL136181;AL138765;AL391136;AMYH01002971;AW452288;BC013871;BC030548;BC112341;BC112366;BC113577;CH471066;DA716349;NM_012465 AAD42979;AAH13871;AAI11600;AAI12342;AAI12367;AAI13578;BAA76776;EAW49975;EAW49976;NP_036597;Q9Y6L7 Hs.154296 1721087;1726407;1765227;2132455 D10S1257;G59526;G62504;SHGC-148720 KIAA0932;MGC133312;MGC133313 OTTHUMP00000020172;tolloid-like protein 2 APPROVED protein-coding ENSG00000095587 11844 05993 606743 VALIDATED 1314549 TLL1 tolloid-like 1 This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 4 4 q32-q33 167013860 167244443 + 166794410 167025609 + 1580863;6480464;7240710 18824173;8661043;18830233;16507574;15489334;14702039;12477932;11313359;10896944;10516436;10479448;19723501;20043912;20379614;21832049;21911782;21963094;22883091;23251661;23412934 7092 B7ZLW3;D6RAK5;D6RBI6;D6RCE0;E9PD25;O43897 ABBA01070297;ABBA01070298;ABBA01070299;ABBA01070300;AC093874;AC097502;AC097507;AF282732;AK021908;AMYH01014676;AMYH01014677;AMYH01014678;BC016922;BC136429;BC136430;BC144084;BC144085;BU753788;CH471056;NG_016278;NM_001204760;NM_012464;U91963 AAB93878;AAF86287;AAH16922;AAI36430;AAI36431;AAI44086;EAX04813;NP_001191689;NP_036596;O43897 Hs.106513 1338504;1669337;1686500;1696322;1714583;2135185;2151375;2170318;2218828 D4S1566;D4S3302;RH119805;SHGC-50239;SHGC-59625;SHGC-59832;SHGC-77747;SHGC4-721;TLL1__5268 ASD6;TLL OTTHUMP00000219730;OTTHUMP00000219732;OTTHUMP00000219733;tolloid-like protein 1 APPROVED protein-coding ENSG00000038295 11843 07074 606742;613087 REVIEWED 1320607 TLR1 toll-like receptor 1 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008] 4 4 p14 38474271 38482807 - 38797876 38806412 - 1580863;4889525;4889528;4889535;1643119;5685014;6480464;6907045;5128779;7240710;7246917;7246898;7246918;7246909;7246886;7246906;7246916 16493059;18547625;16461792;16973131;21235323;19608731;17548585;21108742;18091991;18256364;21970496;19543401;21618349 18394314;11081518;11607792;12077222;9435236;10426995;19627277;19573080;19505919;19456232;19258923;19254290;19200604;19029192;18810425;18776592;18752252;18684966;18635889;18474641;18461142;18451040;18292749;18056480;18006661;17932345;17889651;17703412;17595679;17595233;17475868;17395901;17314700;17202359;17172927;16971956;16893894;16880211;16848791;16537705;16455995;16374251;16177110;16081826;16002719;15812078;15793154;15790341;15489334;15340161;14966134;12975352;12600829;12477932;12091878;11932926;11782555;11561001;11230166;11095740;10820283;8838819;7584028;7584026;20554749;20595247;20616560;20617178;20650298;20673868;20797905;20348427;11584270;15728506;16482509;18686608;19423540;19503839;19771452;19773279;19818630;19924287;19931471;20016852;20100933;20207250;20227302;20406964;20438785;20448286;20452482;20453000;20459687;20478407;20503287;20497180;20819670;20568250;20800603;20815312;20977567;21048031;21048935;21078852;20560984;21105983;21642391;22280448;22998942;23430250;23151486;21646294;21852947;22150367;22301633;21998742;22219617;22238472;22246581;22447933;22200569;21952587;22703024;23652523;23067142;23255565 7096 D6RA99;D6RAP2;D6RCE8;D6RF68;Q15399;Q32MK4 AB445617;ABBA01004114;AC108044;AK292982;AL050262;AMYH01014116;AW408740;BC089403;BC109093;BC109094;BU623316;CH471069;CR533562;D13637;DQ012254;DQ012255;DQ012256;DQ012257;DQ012258;DQ012259;DQ012260;DQ012261;DQ012262;DQ012263;DQ012264;NG_016228;NM_003263;U88540 AAC34137;AAH89403;AAI09094;AAI09095;AAY85633;AAY85634;AAY85635;AAY85636;AAY85637;AAY85638;AAY85639;AAY85640;AAY85641;AAY85642;AAY85643;BAA02801;BAF85671;BAG55014;CAB43364;CAG38593;EAW92901;NP_003254;Q15399 Hs.621817;Hs.654532 1657127;1791848;1798282;2115579 D4S3156;PMC128073P2;SHGC-59520;TLR1_1664.2 CD281;DKFZp547I0610;DKFZp564I0682;KIAA0012;MGC104956;MGC126311;MGC126312;TIL;TIL. LPRS5;rsc786 OTTHUMP00000218158;OTTHUMP00000218173;OTTHUMP00000218174;OTTHUMP00000218175;OTTHUMP00000218186;toll-like receptor 1;toll/interleukin-1 receptor-like protein APPROVED protein-coding ENSG00000174125 11847 03119 601194;613223 REVIEWED 1314756 TLN1 talin 1 This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009] 9 9 p13 35687334 35722128 - 35697334 35732392 - 1580863;2300340;6480464;6484113 18363565 10320340;18342854;10610730;15070891;15494027;18029348;19148538;18156175;21319273;22648415;23022222;18056416;17722883;17597073;17591777;17591693;17430904;16546176;16407302;15983060;15728584;15592455;15581353;15489334;15031296;14581461;12695497;12665801;12606711;12571287;12477932;12422220;12168954;11932255;11382782;11336656;11279249;11113628;10827173;10806106;10581178;10497223;10470851;10393080;9442086;8663236;8635876;7635475;7622520;7534286;2150484;1439807;12119179;8609175;9054445;8641358;20488542;21291860;14627618;14630798;15988023;16005629;16581250;19437340;19903453;20160039;6457647;19952892;8631894;20665668;21454358;21763488;20947017;20947018;21720550;21846996;22863883;20811636;22939629;21911599;19608030;18341635;21139048;21693764;21890473;15161933;19363486;20360068;22075696;22045736;22270917;21822214;22471464;22586326;23266827;22964303;22017400;22053931;22505724;16273093;19738201;22623428;23000965;23204516 7094 Q5TCU6;Q9Y490 AB028950;ABBA01064987;AF078828;AF113217;AF177198;AF178534;AL133410;AMYH01019347;BC020881;BC042923;CH471071;NM_006289;Z50170 AAD13152;AAF23322;AAF27330;AAG39288;AAH42923;BAA82979;EAW58352;EAW58353;NP_006280;Q9Y490 Hs.471014 1850883;2112830;5015961;5024756;5115712 D15S1477;D9S2129E;RH80030;TLN1;WI-14287 ILWEQ;KIAA1027;TLN OTTHUMP00000021350;talin-1 APPROVED protein-coding ENSG00000137076 11845 01726 186745 REVIEWED 1323096 TLR10 toll-like receptor 10 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 4 4 p14 38450629 38460984 - 38773860 38784611 - 1580863;4889528;6480464 18547625 11267672;15276183;14625308;15728506;16024789;19029192;18810425;18776592;18752252;18394314;18332149;18091991;17932345;16702361;16537705;15812078;15489334;15201134;12975309;12689944;12477932;11970999;11782555;11561001;9435236;20595247;15342556;16344560;16482509;17703412;18686608;19247692;19254290;19258923;19332998;19406482;19423540;19505919;19573080;19773279;19924287;20227302;20237496;20406964;20422193;20438785;20444155;20453000;20503287;20348427;20815312;20568250;20800603;20953797;20977567;20877634;23151486;21499082;21716313;22342453;22504414;22150367;22703024;23370977;23124277 81793 D6RHW6;Q6UXL3 AB445680;ABBA01004114;AC108044;AC118137;AF296673;AK292026;AK313468;AMYH01014116;AW504309;AY358300;BC089406;BC109111;BC109112;BP383038;CH471069;DA213264;DA312129;DA643313;DB226380;DQ011502;DQ011503;DQ011504;DQ011505;DQ011506;DQ011507;DQ011508;DQ011509;DQ011510;DQ011511;DQ011512;DQ011513;DQ011514;DQ011515;DQ011516;NM_001017388;NM_001195106;NM_001195107;NM_001195108;NM_030956 AAH89406;AAI09112;AAI09113;AAK26744;AAQ88667;AAY78477;AAY78478;AAY78479;AAY78480;AAY78481;AAY78482;AAY78483;AAY78484;AAY78485;AAY78486;AAY78487;AAY78488;AAY78489;AAY78490;AAY78491;BAF84715;BAG55077;EAW92897;EAW92898;EAW92899;EAW92900;NP_001017388;NP_001182035;NP_001182036;NP_001182037;NP_112218;Q9BXR5 Hs.120551;Hs.730896 1690872;5037552 D8S2279;RH93625 CD290;MGC104967;MGC126398;MGC126399 OTTHUMP00000158729;OTTHUMP00000218160;OTTHUMP00000218161;OTTHUMP00000218162;toll-like receptor 10 APPROVED protein-coding ENSG00000174123 15634 05884 606270 REVIEWED 1343581 TLR3 toll-like receptor 3 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. [provided by RefSeq, Jul 2008] 4 4 q35 187227303 187243246 + 186990309 187006252 + 1580863;5129130;5129228;5129221;5129136;5128769;5128688;5128706;5128779;5129476;5128798;5129133;5129134;5129232;5128695;5129216;5129219;5128693;5128708;5129224;5129478;5129493;5129102;5129226;5129475;5128500;1643119;5685014;6480464;6907045;7240710 19752565;20935192;16453294;18654661;19779466;18363823;20500834;19608731;16029432;15661832;19009529;18849495;20638911;21342497;18097050;16789835;21355876;20011045;16424225;17434873;14987294;20473890;21129050;17610940;21364926;16973131;21235323 21245912;19234180;22024499;16111635;12054664;10426995;12133979;16286015;9435236;11607032;12609980;12692549;12855817;15064760;19628747;19527514;19522763;19505919;19494321;19475618;19378782;19362356;19299748;19265130;19258923;19254290;19247444;16858407;16847112;16720699;16628196;16585585;16533755;16484229;16482523;16473828;16424203;16399790;16344560;16293707;16289658;16160153;16146574;16144834;16043704;16035096;15972671;15961631;15935884;15845391;15778392;15767394;15737993;15731229;15652398;15579900;15502848;15340161;15315972;15226270;15212709;15153468;15119015;15107846;14982987;14729660;14575692;14557267;14519765;12672806;12646618;12539043;12509442;12477932;11782555;11561001;10820283;17878161;19164128;19134117;19120481;19055649;19035519;19019335;19016379;19001446;18988918;18978302;18949355;18946062;18832709;18818748;18813073;18810425;18779317;18776592;18775079;18753640;18725521;18715647;18684960;18568036;18566393;18566014;18562533;18544529;18541719;18508883;18442983;18437017;18394314;18385087;18367536;18325643;18262679;18253710;18204787;18172197;18029758;18021446;17982077;17964520;17962701;17962643;17947455;17939877;17908959;17872438;17851256;17805015;17786279;17703412;17660379;17626075;17602875;17573354;17534115;17525119;17521732;17449641;17314152;17301562;17292969;17254392;17209042;17178723;17150911;17142772;17142768;17085778;17043099;16950283;16935934;16914605;16877304;19231996;16115877;22415225;22466005;22579623;22590509;22552940;20588308;20595247;20604744;20636339;20673868;20309865;20685081;21189260;21266579;20406303;17963596;20009359;10066798;15356140;17128265;18686608;19423540;19437550;19542247;19597128;19625408;19631980;19646728;19656899;19740627;19741468;19748983;19769802;19779021;19795416;19810822;19833099;19855253;19878930;19887600;19890046;19902255;19914718;19948350;19951172;19966137;19966777;20047764;20100933;20124101;20194452;20197609;20200155;20227302;20237496;20331378;20381870;20406964;20422193;20438785;20452482;20472559;20483009;20483744;20483774;20503287;21093032;20523058;20514466;20639488;20832341;19758322;21179282;20367642;20977567;21061265;21079408;20819670;20957750;20651983;18776324;21148036;21216866;21695056;21255094;20855885;20978888;20691286;21129170;21220319;21515789;19593445;22960172;23245579;23269203;22537752;22549436;23103873;23115281;23166319;21367858;21398612;21481769;21173679;21454254;21474651;21563279;21646299;22948160;21802664;21911421;21978158;22457005;21730023;21239167;21722947;21844166;21911422;21952237;22016778;22174453;21498625;21623661;21911501;21998457;21132533;21829730;22200507;22205660;21839239;21903422;21712495;21735101;21843566;21949112;21911973;21990957;21847628;22039520;22065573;21223583;21931545;22102050;21691053;21960283;22323545;22421267;22030901;22260507;22038398;22057682;22611194;21708001;22147891;22070917;22205631;22310660;22989785;22568929;22759966;23056470;23151015;23255072;22572822;22504413;22591330;22950839;22762377;23053995;23056170;23404408;22944378;23179584;23396947;23489702;23255358;22745793;22771581;22825813;22865861;22479513;22851595;22421964;23220997;22849850;22864531;22912896 7098 D6RA51;E6Y0F1;E9PGH4;O15455 AB445631;ABBA01070544;AC104070;AK302143;AK314208;AMYH01014779;BC017954;BC043204;BC059372;BC068487;BC094737;BC096333;BC096334;BC096335;BU624267;CH471056;CS441680;DA374150;DQ360814;DQ360815;DQ360816;DQ445682;DQ470075;DQ470076;DQ470077;DQ470078;DQ470079;GM869032;NG_007278;NM_003265;U88879 AAC34134;AAH59372;AAH94737;AAH96333;AAH96334;AAH96335;ABC86908;ABC86909;ABC86910;ABE01399;ABF06633;ABF06634;ABF06635;ABF06636;ABF06637;BAG36884;BAG55028;BAH13636;CAL68868;CAT16976;EAX04628;EAX04629;NP_003256;O15455 Hs.657724 1791852;2180783;5015961;5037552;5093196 A009J16;D15S1477;D8S2279;G32577;PMC128073P4 CD283;IIAE2 OTTHUMP00000218073;toll-like receptor 3 APPROVED protein-coding ENSG00000164342 11849 04324 603029;609423 REVIEWED 1344850 TLR6 toll-like receptor 6 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011] 4 4 p14 38504803 38507555 - 38825325 38858438 - 1580863;4889532;4889539;4889537;4889528;4889533;4145352;4889538;4889534;4889535;1643119;5685014;5684896;6480464;6907045;7246909 20070409;16154916;20016195;18547625;19844782;20815312;15266299;19019963;16461792;16973131;21235323;18353287;18256364 19029192;11431423;11686851;10231569;10426995;12077222;14625308;16024789;19573080;19543401;19505919;19378782;19258923;19254290;19247692;19200604;19172872;18810425;18776592;18752252;18451040;18424724;18394314;18325643;18159247;18091991;18056480;17934735;17932345;17827388;17703412;17651447;17595233;16880211;16648973;16537705;16482509;16374251;16188043;16177110;16081826;15812078;15661917;14966134;14706104;12724322;12477932;11970999;11782555;11607792;11561001;11441107;11123271;11095740;11081518;9435236;20554749;20595247;20616560;20673868;20797905;16344560;18686608;19423540;19458089;19543380;19771452;19773279;19931471;20037584;20056792;20100933;20200442;20207250;20224557;20227302;20237496;20402822;20406964;20438785;20445564;20448286;20452482;20453000;20503287;20348427;20713893;20568250;20800603;21048031;22992740;22280448;21813774;21677671;21852947;22030478;22150367;22219617;22134717;22703024;23255565;23151486 10333 B2R933;D6R979;D6RAV7;Q9Y2C9 AB020807;AB445652;ABBA01004114;ABBA01004115;AC108044;AK313618;AMYH01014117;BC111755;BF512068;CH471069;DA619469;EU170528;EU170529;EU170531;EU170532;EU170533;EU170534;EU170536;EU195541;EU195542;EU195543;EU195544;EU195545;EU195546;EU195547;EU195548;EU195550;EU195551;EU195553;EU195554;EU195555;EU195557;JA738605;NG_028087;NM_006068 AAI11756;ABW37063;ABW37064;ABW37066;ABW37067;ABW37068;ABW37069;ABW37071;ABY67117;ABY67118;ABY67119;ABY67120;ABY67121;ABY67122;ABY67123;ABY67124;ABY67126;ABY67127;ABY67129;ABY67130;ABY67131;ABY67133;BAA78631;BAG36380;BAG55049;CCF76955;EAW92902;NP_006059;Q9Y2C9 Hs.575090;Hs.743572 1791858 PMC128073P7 CD286 OTTHUMP00000158730;OTTHUMP00000218187;OTTHUMP00000218188;toll-like receptor 6 APPROVED protein-coding ENSG00000174130 16711 05656 605403 REVIEWED 1353654 TLR2 toll-like receptor 2 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is expressed most abundantly in peripheral blood leukocytes, and mediates host response to Gram-positive bacteria and yeast via stimulation of NF-kappaB. [provided by RefSeq, Jul 2008] 4 4 q32 154824891 154846693 + 154605441 154627243 + 1580863;2312687;2312727;2312683;2312684;2312712;2312491;2312507;2312688;2312681;2312724;2312732;2312575;2312680;2312679;2312686;2312713;2312723;2312725;4144177;4145342;4145356;4145337;4145339;4145341;4145343;4145352;4145320;4145324;4144228;4145330;4145355;4889539;4145301;4145303;4145304;4145340;4889537;4889533;4144171;4145323;4145321;4145334;4145322;4889534;4145354;2312497;1643119;5684896;5685014;6480464;6907045;7241099;7207896;7207900;7240551;7207893;7240561;7240710;7241071;7241083;7241085;1302750;7241087;7241091;7241092;7241094;7241095;7241096;7240552;7240559;7240554;5128779;7207894;7207895;7207898;7207901;7240557;7240558;7240560;7240539;7240546;7240543;7207892;7207899;7240555;7246909 17130564;15912106;18029454;17707128;19162137;16740310;19260515;19274437;18787058;16524509;14604479;18644848;19010563;19148143;15699513;18316784;18003835;16286274;20610040;18399852;19128592;18768871;18657324;18400546;18202345;20815312;20113509;19109203;19096003;19011150;19552525;16154916;20813038;20441697;20298136;18602432;20016195;19844782;20685742;19723394;19956717;18787777;19781388;19019963;19763595;19489280;16973131;18353287;21235323;21725847;22750071;22194975;20628182;23142523;18001294;16849506;21617141;16177646;12831613;11801667;23295061;22683883;22172266;22167462;22042912;20130923;19179417;20090572;19608731;23023072;22777483;22655058;22042224;19635914;19479087;18354210;21426732;20729266;21190299;23239000;22311043;20038715;18256364 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7097 B3KWR9;O60603 AB445624;ABBA01070142;AC106865;AF051152;AF424049;AF502291;AK125659;AMYH01014629;AW614989;BC033756;BI769109;CH471056;DQ012265;DQ012266;DQ012267;DQ012268;DQ012269;DQ012270;DQ012271;NG_016229;NM_003264;U88878 AAC34133;AAC34377;AAH33756;AAM23001;AAY85644;AAY85645;AAY85646;AAY85647;AAY85648;AAY85649;AAY85650;ABM84931;ABW03649;BAG54231;BAG55021;EAX04952;EAX04953;NP_003255;O60603 Hs.519033 1645395;1695084;1791850;1793192;1794752;1794776;1795098;1795108;1795112;1795118;1797066;2107673;2128756;2133266;2157416;2174229;5017520 AF368419;D4S575;D4S660;D4S841;G34296;PMC128073P3;PMC201071P1;PMC37511P1;PMC55404P2;PMC97725P1;PMC98129P1;PMC98226P1;PMC98510P1;SHGC-33147;SHGC4-1535;TLR2;TLR2_1084.2 CD282;TIL4 toll-like receptor 2;toll/interleukin 1 receptor-like 4;toll/interleukin-1 receptor-like protein 4 APPROVED protein-coding 11848 04323 114500;246300;603028;607948 REVIEWED 1348706 TLR5 toll-like receptor 5 This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009] 1 1 q41-q42 221350207 221383247 - 223282748 223316624 - 1580863;5129510;5129679;5129477;5129511;5129497;5129499;5129503;5128779;5130865;4142862;5129506;5129557;1643119;5685014;6480464;6907045;7240710;7246906;7246909 17982089;20566829;14623910;17676990;20529359;21068401;19801452;19608731;18155283;19258923;18684966;12763043;16973131;21235323;19543401;18256364 12702497;21455558;20154223;21067314;12925853;19638314;19620771;19616328;19505919;19473567;19447460;19179655;19150884;19134113;19120490;19067129;18810425;18809506;18776592;18680520;18590761;18538140;18490781;18394314;18325643;18314303;18213697;18167552;17703412;17587322;17516623;17442957;17283206;16971956;16897777;16670329;16644730;16482509;16470719;16439468;16339542;16284379;16239509;16179598;16044857;16027372;15956202;15747241;15731050;15685542;15489334;15340161;15302888;15135456;15107846;15069060;15067088;14707135;14607814;12933896;12794153;12734364;12600829;12477932;12185085;11953430;11782555;11561001;11323673;10820283;10426995;9596645;9435236;22855713;14625308;15276183;16024789;17128265;18686608;19786303;19912257;19950169;20016852;20056178;20083854;20100933;20130217;20164175;20194452;20227302;20379614;20452482;20463618;20483744;20503287;20452988;22058078;22318606;20953381;20656790;20855887;19758322;20977567;19913121;20595247;20604744;20626741;20628086;20673868;20677014;20952467;21204905;19593445;20364327;20456615;23068105;23261530;21109746;21237205;21573018;23121969;20196781;21455638;21714724;21949773;23447684;23455496;23064463;22250084;21994405;22661088;22173220;22703024;22994872;23287987;21721932 7100 B1AZ06;O60602 AB060695;AB445645;ABBA01006367;AF051151;AI628024;AL359979;AL929091;AMYH01001748;BC109118;BC109119;BQ025528;CH471100;DB448079;FJ556980;FJ556987;NG_016244;NM_003268;U88881 AAC34136;AAC34376;AAI09119;AAI09120;ACM69023;ACM69030;BAB43955;BAG55042;EAW93262;EAW93263;NP_003259;O60602 Hs.604542 1791856;1796956 PMC128073P6;TLR5_1375 FLJ10052;MGC126430;MGC126431;SLEB1;TIL3 OTTHUMP00000036039;OTTHUMP00000036040;toll-like receptor 5;toll/interleukin-1 receptor-like protein 3 APPROVED protein-coding ENSG00000187554 11851 04326 601744;603031;608556 REVIEWED 737013 TLR4 toll-like receptor 4 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 9 9 q33.1 119506431 119519589 + 120466453 120479769 + 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7099 Q5VZI8 AA598398;AB445638;ABBA01016273;AF172171;AF177765;AF177766;AK226155;AK290053;AK293068;AK303730;AL160272;AL710219;AMYH01021681;BC025294;BC117422;BC143841;BG622357;CH471090;DA126770;DA187988;DA218006;DQ018108;DQ018109;FB700885;GM869034;NG_011475;NM_003266;NM_138554;NM_138557;U69193;U88880;U93091 AAC34135;AAC80227;AAF05316;AAF07823;AAF89753;AAI17423;AAY82268;AAY82269;BAF82742;BAF85757;BAG55035;BAG64706;CAS02255;CAT16978;EAW87448;EAW87449;EAW87451;NP_003257;NP_612564;NP_612567;O00206 Hs.174312 1735926;1791854;1793194;1793196;1793776;1794564;1794778;1795096;1795110;1795114;1795120;1795136;1796954;1854627;2114060;5093840 A009X32;D9S1060E;G32954;PMC128073P5;PMC201071P2;PMC201071P3;PMC289161P2;PMC31919P1;PMC55404P3;PMC97668P2;PMC98129P2;PMC98226P2;PMC98510P2;PMC98826P3;TLR4;TLR4_1086 ARMD10;CD284;TLR-4;TOLL;hToll OTTHUMP00000022807;hToll;homolog of Drosophila toll;toll-like receptor 4 APPROVED protein-coding ENSG00000136869 11850 04325 114500;603030;611488 REVIEWED 5144586 TLR8-AS1 TLR8 antisense RNA 1 X X p22.31 17034947 17040460 - 12920936 12926455 - 12477932 349408 ABBA01071048;ABBA01071049;AC005859;AC139705;AMYH01022091;BC037548;NR_030727 Hs.685035 5022588 D5S1597E APPROVED miscrna ENSG00000233338 40720 VALIDATED 1353456 TLR7 toll-like receptor 7 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008] X X p22.3 12795123 12818401 + 12885202 12908480 + 1580863;5129471;1643119;5685014;6480464;6907045;7246905;7246909 19386802;16973131;21235323;19944565;18256364 19454678;17609264;16111635;15276183;16188996;16286015;14625308;16024789;19614650;19564354;19527514;19505919;19473567;21167247;19265114;19258923;19164127;19129482;19120473;19114863;19019335;18995892;18949362;18818748;18810425;18806803;18682521;18596825;18535206;18474259;18431484;18406377;18394314;18385087;18250417;18215354;18088248;18021446;17964520;17956986;17907191;17703412;17698957;22525943;22423970;22488361;22543675;17512627;17371961;17301562;17075576;17040905;17023556;16973388;16935934;16887967;16623926;16517754;16482509;16446426;16230478;16116638;16025564;15778362;15695821;15489334;12975309;12477932;12045249;12032557;11970999;11909637;11782555;11022120;11022119;9435236;17608805;22787112;21527067;21958189;22505023;22610069;19452306;20832340;20399690;20309865;18686608;19381167;19406482;19553637;19740627;19794067;19821521;19841637;19887600;19915052;19948975;19954299;20007807;20026744;20042593;20100933;20124101;20190752;20194452;20227302;20237413;20237496;20410486;20412752;20503287;20525845;20559388;20592251;20819670;19924287;20390327;20977567;21061265;20872712;19913121;20588308;20595247;20605567;20628086;20733074;18438411;21037581;23023703;21039888;21092001;20821041;21354862;19593445;22857391;21515789;22952664;23150717;21730058;21734241;21435390;21543762;21844166;21677671;21977996;21990957;21396113;22022576;21458848;22684144;21947541;22196370;22243920;22065095;22210629;22363482;22786773;23382558;23386618;23069256;21988832;22730373;23376919;22952899;23179584;23468661;23489702;23221735 51284 B2R9N9;Q9NYK1 AB445659;ABBA01071042;ABBA01071043;ABBA01071044;ABBA01071045;ABBA01071046;ABBA01071047;AC003046;AC005859;AF240467;AF245702;AK313858;AMYH01022091;AY358292;BC033651;CH471074;DQ022180;DQ022181;DQ022182;DQ022183;NG_012569;NM_016562 AAF60188;AAF78035;AAH33651;AAQ88659;AAZ99021;AAZ99022;AAZ99023;AAZ99024;ABM82195;ABM85383;BAG36586;BAG55056;EAW98807;NP_057646;Q9NYK1 Hs.659215 1659720;1791860;2163177;5022794;5037552 D8S2279;DXS7724;PMC128073P8;STS-N30597;TLR7 TLR7-like OTTHUMP00000022919;toll-like receptor 7;toll-like receptor 7-like APPROVED protein-coding ENSG00000196664 15631 02295 300365 REVIEWED 1605396 TLR8 toll-like receptor 8 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008] X X p22 12834679 12851209 + 12924739 12941288 + 5129471;1643119;5685014;6480464;6907045;7246909 19386802;16973131;21235323;18256364 17090647;14976262;15276183;16188996;16286015;14625308;16024789;19614650;19527514;19505919;19454678;19265114;19258923;19164128;19164127;19028959;19019335;19017992;18985539;18985439;18942751;18927625;18818748;18810425;18682521;18605904;18431484;18406377;17964520;17932028;17868034;17724596;17703412;17698957;17301562;16123302;12032557;16111635;22525943;22164301;22393042;17040905;17023556;16935934;16857668;16737960;16482509;16303743;16025564;16008579;15489334;12975309;12724322;12477932;11909637;11782555;11607792;11022120;11022119;9435236;23221735;19913121;20588308;20595247;20628086;20364151;20399690;20832340;20652908;20829351;20977567;21061265;20674764;18686608;19381167;19406482;19437550;19527497;19637197;19841637;19850743;19915052;20004021;20100933;20124101;20190752;20194452;20227302;20237413;20237496;20412752;20503287;18438411;20946625;21092001;21354862;21321205;19593445;22857391;18394314;21734241;21677671;21499082;22065095;21977996;22022576;21947541;22196370;22289837;22243920;22210629;22363482;23386618;22730373;23520111;22340042;22768144 51311 D1CS70;Q9NR97 AB445666;ABBA01071048;ABBA01071049;ABBA01071050;ABBA01071051;ABBA01071052;ABBA01071053;AC005859;AC139705;AF245703;AF246971;AK075117;AK314240;AMYH01022091;AY358296;BC101074;BC101075;BC101076;BC101077;CH471074;NG_012882;NM_138636 AAF64061;AAF78036;AAI01075;AAI01076;AAI01077;AAI01078;AAQ88663;BAC11412;BAG55063;EAW98808;EAW98809;NP_619542;Q9NR97 Hs.660543 1683461;1796958;2125518;5095062 DXS7651;RH93995;TLR8;TLR8_1092 CD288;MGC119599;MGC119600 OTTHUMP00000022930;toll-like receptor 8 APPROVED protein-coding ENSG00000101916 15632 02296 300366 REVIEWED 1351719 TLX1 T-cell leukemia homeobox 1 This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] 10 10 q24 102880252 102887536 + 102891061 102897546 + 1599439;1580863;6480464;7240710 1683261 19250647;18368072;18283632;18245528;18187418;18073142;17713543;17609427;17213805;16862188;16407851;16357834;15897879;15384172;14504110;12477932;12180349;12054735;11342305;10393251;10327073;9778044;9009195;8099440;7555717;1973146;1717256;1681546;1676542;1352396;19559479;20972433;17303350;19862821;20618946;21326611;22366949;22516263 3195 G3V1B7;P31314 ABBA01063205;AF067443;AJ009794;AL357395;AMYH01003004;BC130530;BF514683;CH471066;M62626;M75952;NG_027826;NM_001195517;NM_005521;S38742 AAA36719;AAA58662;AAB19293;AAG10096;AAI30531;CAA08834;EAW49778;NP_001182446;NP_005512;P31314 Hs.89583 1742239;1779001;2108963;2121953 D10S2182;GDB:193866;RH17718;TLX1_1096.2 HOX11;MGC163402;TCL3 Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch);OTTHUMP00000020816;OTTHUMP00000244108;T-cell leukemia homeobox protein 1;T-cell leukemia/lymphoma protein 3;homeo box 11 (T-cell lymphoma 3-associated breakpoint);homeobox protein Hox-11;proto-oncogene TCL-3 APPROVED protein-coding ENSG00000107807 5056 01728 186770 REVIEWED 3322054 TLX1NB TLX1 neighbor 10 10 10 q24 96586805 96628615 - 102839068 102880893 - 102849078 102890903 - 12477932;15164054;15489334;17303350 100038246 P0CAT3 ABBA01063205;ABBA01063206;ABBA01063207;AL133215;AL357395;AMYH01003003;AMYH01003004;BC019674;BI770592;CH471066;NM_001085398;Y11608 EAW49779;NP_001078867;P0CAT3 Hs.662323 1742239 GDB:193866 APT-B7;TD1;TDI TLX1 divergent gene protein;putative TLX1 neighbor protein;putative protein TDI protein-coding ENSG00000236311 37183 612734 VALIDATED 1602315 TM2D1 TM2 domain containing 1 The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. [provided by RefSeq, Dec 2008] 1 1 1 p31.3 60435134 60479720 - 61919307 61963683 - 62146719 62191095 - 6480464 12477932;15126508;12836168;12553667;11278849;17207965;19322201;21139048 83941 J3KPA2;Q9BX74 ABBA01074623;ABBA01074624;ABBA01074625;AC099791;AF353990;AK311444;AK311705;AMYH01000664;AMYH01000665;BC029486;BC048995;CH471059;NM_032027 AAH29486;AAK35064;ADQ31640;EAX06597;EAX06598;EAX06599;NP_114416;Q9BX74 Hs.656790 1685798;1739751;1857326;2144215;2177701;2179765;5022578 D10S1624;D1S1423;D1S2193;D1S2501E;RH92344;SHGC-74894;SHGC-74933 BBP OTTHUMP00000010139;OTTHUMP00000010227;TM2 domain-containing protein 1;beta-amyloid-binding protein;hBBP APPROVED protein-coding ENSG00000162604 24142 16540 610080 REVIEWED 6481297 TM4SF1-AS1 TM4SF1 antisense RNA 1 100874091 AC108751 APPROVED miscrna 40587 1346715 TLR9 toll-like receptor 9 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Jul 2008] 3 3 p21.3 52230138 52235219 - 52255096 52260179 - 1580863;2312677;2301099;2312679;5130185;5130206;5130858;5130178;5130712;5130709;5130706;5130741;5129104;5130186;4889523;5130208;5130705;5130184;5130870;5130197;5130704;5130722;5130767;5130707;5130710;5130731;5130766;5128779;5130708;5130863;5130865;5130719;5129102;5130866;4144208;1643119;5685014;6480464;6907045;7246911;7246913;7246889;7246895;7246885;7245988;7246894;7246901;7245987;7246887;7246893;7246909;7245989;7246915;7245966;7246884;7246897;7246899;7246896 18434754;17440926;19148143;15631627;18633634;18936185;20806060;21324137;17925007;18433921;20038537;20016192;17853411;20072849;20837493;18763053;18376319;17283572;17321466;19771452;20227302;19130296;18426877;17004992;20085599;19539691;19608731;18416964;18275280;18155283;20360853;20473890;17785831;18312481;16973131;21235323;17469139;18922969;18776126;21544241;22251233;16973389;21592581;20604744;23467932;21908957;21621468;18256364;22787315;21929816;23548820;20497632;21127878;20847283;19578108 15723075;15276183;11130078;16286015;14625308;14751759;15207506;16024789;19627277;19564354;19527514;19505919;19459480;19390575;19367581;19362685;19337058;19317913;19299739;19297619;19289178;19284650;19275920;19264973;19258923;19254290;19247692;19211891;19201477;19129482;19120473;19096003;19079358;19050243;19034349;19033535;19019335;18946062;18832675;18818748;18810425;18806803;18776592;18769358;18606688;18568766;18539711;18535206;18524824;18437017;18406377;18394314;18332208;18318750;18262306;18253698;18215354;18208876;18160420;18092352;18036648;17986857;17984204;17964520;17932028;17914947;17894360;17893430;17878374;17854755;17854429;17768129;17703412;17636117;17573724;17534115;17516623;17482427;17473064;17373717;17344245;17328813;17325049;17301562;17295441;17292969;17258734;17229603;17145922;17142771;17075805;12573264;12560217;12477932;11976718;11970999;11909637;11867692;11782555;11564765;11561001;11022120;11022119;9435236;17040905;17000223;16990271;16971956;16951309;16920494;16864658;16849519;16847112;16779724;16731773;16608528;16575840;16437636;16428738;16424230;16394009;16371473;16237063;16230478;16164440;16125159;16024265;16002719;15878652;15860583;15790341;15730519;15607737;15585868;15489334;15307186;15294971;15153500;15107846;14987294;14716310;14694183;12975309;12941697;12867418;12778475;12734363;12724322;12689944;12600829;12925853;17474147;22169598;22423970;21317915;22554506;22671429;22059466;22211722;22613717;22853846;23296704;22662111;20375564;20375566;20667457;19913121;20588308;20595247;20622911;20628086;20646321;20646633;20659127;20673868;20674764;20797905;21250838;20181802;20399690;20980519;21155002;19513613;20977567;21048031;21050493;20696081;20514021;20635795;20592251;20811701;20819670;19924287;20713890;12660731;15356140;17128265;18686608;19319670;19401392;19406482;19423540;19601804;19618291;19620253;19639721;19714766;19723394;19724876;19740627;19745833;19789190;19794067;19796535;19809335;19810822;19844589;19854217;19855253;19903791;19906293;19914718;19948975;19953283;20026892;20041977;20044998;20054821;20100933;20130217;20132814;20137629;20194452;20197609;20207250;20227772;20237496;20307689;20331378;20348497;20363151;20406964;20422193;20438785;20452482;20500814;20503287;20559388;21057083;21059889;19840968;20935225;21086718;20843333;21462132;18595521;18841790;20442853;21048937;21191071;21778270;21287547;21258099;21328884;17192395;20843814;20978888;21068441;21115235;21129170;20364327;22932083;22952899;23045477;21968713;22577991;23091345;21448350;21483736;20821041;21391743;21398612;21575365;21595536;21457584;21490291;21515789;21689850;22014045;22046272;22170068;21682079;21741080;21844166;22288832;22684144;22847512;21176371;21604257;23043436;23219390;23183093;23266611;23406596;21703981;21220755;21633947;21748790;21903422;22041559;22178715;21908428;21968308;22174451;21223799;21911421;21978158;21132533;21977996;21720175;21273385;21843566;21940676;21990957;22055432;23103284;23123793;21876325;22653776;23182970;22488361;21850017;22001237;22070100;22132241;22196370;22067623;22207622;21527067;21778277;22221660;22269973;21607583;21866115;21926972;22065095;22691414;22228476;22695187;23071157;23425749;23021866;23135998;23221735;23179584;23276930;23383065;22344539;22931661;23133627;22898741;23289794;22672741;21499878;22822061;17360657;21425908;21734566;21833528;22057691;22594374;22768144;22836641;22964787;23009111;22893852;22594608;22701693;22714906;22908309 54106 C3W5P5;Q9NYC3 AB045180;AB445673;ABBA01024511;AC097637;AF245704;AF246972;AF259262;AF259263;AMYH01013182;AY359085;BC032713;CH471055;DQ019992;DQ019993;DQ019994;DQ019995;DQ019996;DQ019999;EU170540;EU170541;EU170542;EU170543;NM_017442 AAF72189;AAF72190;AAF78037;AAG01734;AAH32713;AAQ89443;AAZ95513;AAZ95514;AAZ95515;AAZ95516;AAZ95517;AAZ95520;ABW37075;ABW37076;ABW37077;ABW37078;ACE86657;ACE87339;BAB19259;BAG55070;EAW65191;EAW65193;NP_059138;Q9NR96 Hs.87968 1791862;1794780;1796960 PMC128073P9;PMC55404P4;TLR9_1094 CD289 OTTHUMP00000212618;toll-like receptor 9 APPROVED protein-coding ENSG00000239732 15633 05685 605474 REVIEWED 1602456 TM2D2 TM2 domain containing 2 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008] 8 8 8 p11.22 37797825 37805586 - 38965484 38973198 - 38846327 38854041 - 6480464 16303743;12477932;11278849;8125298 83877 E5RIQ5;E5RIT0;E5RJK9;Q9BX73 ABBA01015933;AC108863;AF353991;AK075027;AK075155;AK225093;AK314703;AL834224;AMYH01018657;BC004878;BC109049;BC109050;BG424960;CH471080;CQ783012;CQ783226;NM_001024380;NM_001024381;NM_031940;NM_078473 AAH04878;AAI09050;AAI09051;AAK35065;BAC11359;BAC11437;BAG37251;CAF86219;CAF86421;CAH10695;EAW63286;EAW63287;EAW63288;EAW63289;NP_001019551;NP_001019552;NP_114146;NP_510882;Q9BX73 Hs.7471 1664238;1689051;5022578 D1S1423;RH98541;WI-16234 BLP1;MGC125813;MGC125814 BBP-like protein 1;OTTHUMP00000225898;OTTHUMP00000225899;OTTHUMP00000225900;OTTHUMP00000225901;TM2 domain containing 2, isoform a;TM2 domain-containing protein 2;beta-amyloid-binding protein-like protein 1 APPROVED protein-coding ENSG00000169490 24127 16553 610081 VALIDATED 6481168 TM4SF19-AS1 TM4SF19 antisense RNA 1 100874214 AC069257 APPROVED miscrna 41085 1353737 TLX3 T-cell leukemia homeobox 3 RNX (HOX11L2, TLX3) belongs to a family of orphan homeobox genes that encode DNA-binding nuclear transcription factors. Members of the HOX11 gene family are characterized by a threonine-47 replacing cytosine in the highly conserved homeodomain (Dear et al., 1993 [PubMed 8099440]).[supplied by OMIM, Mar 2008] 5 5 q35.1 170668893 170671743 + 170736288 170739138 + 1580863;6480464 12970786;12477932;12454747;12407709;12130513;11587205;11435718;11435716;8099440;18368072;18185524;17308084;16966433;15990867;15674415;15489334;15334547;15240857;14504110;15466398;20211142;21225930;21374761;21617853;22366949;22516263;19250647 30012 O43711 ABBA01044083;ABBA01044084;AC091980;AJ223798;AMYH01015806;BC017291;CH471062;NM_021025 AAH17291;ABM83580;ABM86819;ABM87084;CAA11550;EAW61452;NP_066305;O43711 Hs.249125 HOX11L2;MGC29804;RNX OTTHUMP00000223315;T-cell leukemia homeobox protein 3;homeo box 11-like 2;homeobox protein Hox-11L2 APPROVED protein-coding ENSG00000164438 13532 06868 604640 PROVISIONAL 1320082 TLX2 T-cell leukemia homeobox 2 This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010] 2 2 p13.1 74595119 74597398 + 74741596 74744275 + 1580863;6480464 16969514;16402914;16291166;15489334;12477932;10446220;10343123;9738002;19719399;20044949;8889548;20211142;20728215 3196 F8VSD3;O43763 AB008501;AB008502;ABBA01075602;AC005041;AJ002609;AMYH01010454;BC006356;BC006396;BC018611;BU740503;CH471053;NM_016170 AAH06356;ABZ92008;BAA83463;EAW99630;NP_057254;O43763 Hs.168586 Enx;HOX11L1;NCX OTTHUMP00000160420;T-cell leukemia homeobox protein 2;homeo box 11-like 1;homeobox protein Hox-11L1;neural crest homeobox protein;t-cell leukemia, homeobox 2 APPROVED protein-coding ENSG00000115297 5057 07254 604240 REVIEWED 1602099 TM2D3 TM2 domain containing 3 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008] 15 15 15 q26.3 78595626 78606219 - 99999572 100010117 - 102182049 102192594 - 6480464 16642435;14702039;12477932;11278849;22990118 80213 B3KT51;E7EPS7;H0YM84;H0YNF6;H0YNS4;H3BSX6;Q9BRN9 ABBA01020518;AC090164;AF353992;AK026257;AK094955;AK296553;AK297048;AK315584;AL512689;AMYH01006975;BC006150;BC008873;BQ272585;CH471101;NM_025141;NM_078474 AAH06150;AAH08873;AAK35066;BAB15415;BAG37956;BAG52963;BAG59176;BAG59574;CAC21647;EAX02313;EAX02314;EAX02315;NP_079417;NP_510883;Q9BRN9 Hs.288912 1654980;1654982;1688116;1691204;2114645;2132944 A004B35;A005Y48;G20610;RH15691;RH77920;RH94107 BLP2 BBP-like protein 2;OTTHUMP00000194837;OTTHUMP00000194838;TM2 domain-containing protein 3;beta-amyloid-binding protein-like protein 2 APPROVED protein-coding ENSG00000184277 24128 16554 610014 REVIEWED 1605592 TM4SF19 transmembrane 4 L six family member 19 3 3 3 q29 194630617 194645455 - 197534816 197549655 - 196050417 196065291 - 6480464 16344560;15489334;12477932 116211 B7ZW46;C9JCD5;H7C405;Q96DZ7 ABBA01033734;ABBA01033735;AC069257;AF192910;AK310209;AMYH01013793;BC146985;BC146993;BC147021;BC171824;BC171870;BP395549;BP396791;BQ678650;CA430273;CA489370;CH471191;DB015357;NM_001204897;NM_001204898;NM_138461 AAI46986;AAI46994;AAI47022;AAI71870;AAQ13824;EAW53661;NP_001191826;NP_001191827;NP_612470;Q96DZ7 Hs.733264 OCTM4 OTTHUMP00000208458;OTTHUMP00000208459;OTTHUMP00000208460;OTTHUMP00000208461;osteoclast maturation-associated gene 4 protein;tetraspan membrane protein OCTM4;transmembrane 4 L6 family member 19 protein-coding ENSG00000145107 25167 14013 VALIDATED 1317482 TM6SF1 transmembrane 6 superfamily member 1 15 15 15 q24-q26 60781106 60810893 - 81567384 81596680 + 83776324 83806111 + 1580863;6480464 12477932;11124529;8125298 53346 E7EPQ8;E9PD04;H3BM84;H3BMK0;Q6P4D7;Q8N5N8;Q9BZW5 ABBA01029434;AC024270;AF255922;AK223246;AK292100;AK295568;AMYH01006858;BC032007;BC063487;CH471188;CQ834420;CS072467;DQ021909;NM_001144903;NM_023003 AAG59699;AAH32007;AAH63487;AAY44754;ADZ15973;BAD96966;BAF84789;BAG58468;CAH05425;CAI93605;EAW62428;NP_001138375;NP_075379;Q9BZW5 Hs.513094 1646690;1654184;1669132;1698962;1731317;2122950;5095894 D15S1212;D15S173;NIB1973;RH103050;WI-14093;WI-19531;WIAF-1509 OTTHUMP00000190873;transmembrane 6 superfamily member 1 protein-coding ENSG00000136404 11860 08411 606562 VALIDATED 1605011 TM4SF18 transmembrane 4 L six family member 18 3 3 3 q25.1 147446792 147462055 - 150521545 150534109 - 149036285 149051548 - 6480464 15489334;12477932;10975581;14702039;16344560;17207965 116441 C9J6Q4;Q96CE8 ABBA01058945;AC093001;AK092282;AK313400;AL833134;AMYH01013570;BC014339;BF213446;CA454331;CH471052;DB282139;NM_001184723;NM_138786 AAH14339;ADQ33182;BAG36197;EAW78877;EAW78878;EAW78879;NP_001171652;NP_620141;Q96CE8 Hs.22026 1336490;1680703;1698882;1759247 D3S3705;RH103008;RH81076;SHGC-151155 L6D OTTHUMP00000215874;OTTHUMP00000215875;OTTHUMP00000215876;transmembrane 4 L6 family member 18 protein-coding ENSG00000163762 25181 14018 VALIDATED 1320105 TM4SF1 transmembrane 4 L six family member 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008] 3 3 q21-q25 150569495 150578258 - 149086805 149095568 - 1580863;6480464 7510285;19401544;18270265;16169070;15812828;15489334;14702039;12855661;12477932;11774983;11739647;11426942;11102519;8168850;7829101;1565644;20486778;21656834;21569526;21626280;21139048;21987572;19322201 4071 C9J611;F8WBG6;F8WF27;P30408 ABBA01058945;AC073522;AC108751;AK093829;AK130073;AK130271;AL832780;AMYH01013570;BC008442;BC010166;BC034145;BG142206;BI494959;CH471052;CR456953;M90657;NM_014220;X75684 AAA36158;AAH08442;AAH10166;AAH34145;CAG33234;EAW78874;EAW78875;EAW78876;NP_055035;P30408 Hs.740377 1648254;1676226;2144440;2153329 D3S3931;D3S4191;RH91511;STS-M90657 H-L6;L6;M3S1;TAAL6 OTTHUMP00000215898;membrane component chromosome 3 surface marker 1;membrane component, chromosome 3, surface marker 1;transmembrane 4 L6 family member 1;transmembrane 4 superfamily member 1;tumor-associated antigen L6 APPROVED protein-coding ENSG00000169908 11853 01854 191155 REVIEWED 1318639 TM4SF5 transmembrane 4 L six family member 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008] 17 17 p13.3 4621936 4633253 + 4675187 4686506 + 1580863;6480464 21196261;22292774;9479038;19036703;18357344;16828471;15489334;12477932;11774983;11739647;10975581;8895530;20399237;17207965;19789264;20506553;21328452;22014979;22178131;22359512;22916037 9032 O14894;Q6FHF6 ABBA01054773;ABBA01054774;AC091153;AC109333;AC233723;AF027204;AMYH01008042;BC069519;BC093688;BC117163;CH471108;CR456925;CR541798;NM_003963 AAB82947;AAH69519;AAH93688;AAI17164;ADQ32915;CAG33206;CAG46597;EAW90412;EAW90413;NP_003954;O14894 Hs.184194 2120368 G22328 OTTHUMP00000115981;tetraspan transmembrane protein L6H;transmembrane 4 L6 family member 5;transmembrane 4 superfamily member 5 APPROVED protein-coding ENSG00000142484 11857 06877 604657 REVIEWED 731779 TM4SF4 transmembrane 4 L six family member 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011] 3 3 3 q25 147604384 147633024 + 150675124 150703758 + 149192368 149221181 + 1580863;6480464 7665614;18765015;15489334;14702039;12477932;11739647;10975581;9737661;15342556;22011044;22318606 7104 C9JVD2;P48230 ABBA01058943;AC108751;AK055577;AK315464;AMYH01013571;BC001386;BG656032;BP294159;BT007430;CH471052;CS223383;HH935298;HI939028;HI939141;HI939254;HI987324;HI988479;HI988592;JA032847;JA033054;JA033655;JA142877;JA188628;JA188741;JA282315;JA288780;JA421414;NM_004617;U31449 AAA74745;AAH01386;AAP36098;BAG37851;BAG51538;CAJ46931;CBX36869;CBY79741;CBY79760;CBY79779;CBY88735;CBY88763;CBY88782;CCA61671;CCA61690;CCA61709;CCA64036;CCA64157;CCA64176;CCA65386;CCA65417;CCD32746;EAW78870;EAW78871;NP_004608;P48230 Hs.133527 2168816;2173707;2186337 RH17784;RH46271;SHGC-35530 FLJ31015;ILTMP;il-TMP OTTHUMP00000216010;intestinal and liver (il) tetraspan membrane protein;intestine and liver tetraspan membrane protein;transmembrane 4 L6 family member 4;transmembrane 4 superfamily member 4 APPROVED protein-coding 11856 07585 606567 REVIEWED 1605628 TM4SF20 transmembrane 4 L six family member 20 2 2 2 q36.3 221996055 222013256 - 227935116 227952264 - 228226872 228244022 - 6480464 16344560;15815621;15489334;14702039;12975309;12477932;20479760 79853 C9JES4;Q53R12 ABBA01050185;AC097662;AK026453;AMYH01011541;AY358671;BC035754;BC137256;BC137257;CH471063;DA926038;NM_024795 AAH35754;AAI37257;AAI37258;AAQ89034;AAY24253;BAB15488;EAW70870;NP_079071;Q53R12 Hs.156652 FLJ22800;PRO994;TCCE518 OTTHUMP00000164243;transmembrane 4 L6 family member 20 protein-coding ENSG00000168955 26230 08008 VALIDATED 1318158 TM6SF2 transmembrane 6 superfamily member 2 19 19 19 p13.3-p12 19279244 19288141 - 19236174 19245074 - 19375174 19384074 - 1580863;6480464 16344560;15057824;14702039;12477932;11572484;11124529 53345 Q8N8A7;Q9BZW4 ABBA01051321;AC003967;AC138430;AF255923;AK024515;AK026307;AK097070;AMYH01009607;BC120986;BC120987;CH471106;DA930032;NM_001001524 AAG59700;AAI20987;AAI20988;AAI60089;BAC04941;EAW84806;EAW84807;NP_001001524;Q9BZW4 Hs.531624 2109969;2186511 D19S1164;TM6SF2_9766 KIAA1926 transmembrane 6 superfamily member 2 protein-coding ENSG00000213996 11861 12109 606563 VALIDATED 1317150 TM9SF4 transmembrane 9 superfamily protein member 4 20 20 20 q11.21 27453693 27511424 + 30184476 30218720 + 30697309 30755061 + 737633;1580863;6480464 12477932 15489334;14702039;11780052;9039502;8889548;19893578;22939629;21139048;21890473;21906983;19322201;23128233 9777 F2Z2L1;F8WCN2;Q92544 ABBA01019281;ABBA01019282;ABBA01019283;AK124411;AK126534;AK294980;AK296500;AK302439;AK316293;AL049539;AMYH01011835;AMYH01011836;AMYH01011837;BC005173;BC021107;BC022850;BM976438;CH471077;CQ834450;CQ834502;D87444;DC381660;JA795170;NM_014742 AAH21107;AAH22850;BAA13385;BAC86581;BAG58049;BAG59133;BAG63738;BAH14664;CAH05440;CAH05466;CCO75435;EAW76389;EAW76390;EAW76391;NP_055557;Q92544 Hs.654665 1339429;2124785;2169585 D20S1026;D20S874;RH64163 KIAA0255;dJ836N17.2 OTTHUMP00000030581;OTTHUMP00000200405;transmembrane 9 superfamily member 4 protein-coding ENSG00000101337 30797 15514 VALIDATED 6480420 TMA16P1 translation machinery associated 16 homolog pseudogene 1 11 q12.1 58562676 58564428 - 100101405 ABBA01021493;AMYH01003661;AP001652;NG_006426 pseudo 43780 INFERRED 1322541 TM7SF2 transmembrane 7 superfamily member 2 11 11 11 q13 62205641 62210007 + 64635917 64640283 + 64879341 64883707 + 1580863;6480464 9286704;16784888;9878250;18660489;15489334;12477932;11937680;11784322;9615229;19940018;20138239;18624398 7108 E9PK81;E9PLI3;E9PLL1;E9PLS9;E9PP79;E9PQ50;E9PQZ7;E9PRQ1;E9PS09;E9PS18;F5GYV3;H0YCI8;H0YDY5;H0YEN6;O76062 ABBA01024136;AF023676;AF048704;AF096303;AF096304;AK290935;AK296441;AMYH01003716;AP003068;BC009052;BC012857;BC038353;BG771219;CH471076;NM_001277233;NM_003273;NR_102367 AAC21450;AAC21457;AAD09765;AAD09769;AAH09052;AAH12857;AAH38353;BAF83624;BAG59094;EAW74348;EAW74349;EAW74350;EAW74351;NP_001264162;NP_003264;O76062 Hs.31130 2108575 TM7SF2_8679 ANG1;DHCR14A;NET47 C-14 sterol reductase;OTTHUMP00000230405;OTTHUMP00000230407;OTTHUMP00000230409;OTTHUMP00000230410;OTTHUMP00000230411;another new gene 1 protein;delta(14)-sterol reductase;delta-14-SR;putative sterol reductase SR-1;sterol C14-reductase protein-coding ENSG00000149809 11863 04564 603414 VALIDATED 6480421 TMA16P2 translation machinery associated 16 homolog pseudogene 2 1 p34.1 46311010 46313391 - 100101407 ABBA01050850;AL603888;AMYH01000579;NG_006427 pseudo 43781 INFERRED 1316066 TM9SF1 transmembrane 9 superfamily member 1 14 14 14 q11.2 4522825 4529352 - 23728193 23734722 - 24658353 24664882 - 1580863;6480464 9332367;15489334;12477932;11595169;19029833;21674799;17342744;21906983 10548 E9PJC4;E9PJM1;E9PL78;E9PMQ9;E9PNW2;E9PP24;E9PQY7;E9PS99;E9PSI1;G3V1B9;O15321 AA663295;ABBA01061336;ABBA01061337;AK292110;AK304642;AL136295;AMYH01005610;BC010856;BM922952;BX161390;BX161494;CH471078;JA795162;JA795164;NM_001014842;NM_006405;U94831 AAC51782;AAH10856;BAF84799;BAG65421;CAD61879;CAD61941;CCO75431;CCO75432;EAW66073;EAW66074;EAW66075;EAW66076;EAW66077;NP_001014842;NP_006396;O15321 Hs.91586 1652825;1684706;1693476;2109971;2135479;5019781 A009U06;G32832;RH47154;RH70732;SHGC-57971;TM9SF1_9135 HMP70;MP70 MP70 protein family member;OTTHUMP00000028169;OTTHUMP00000164699;OTTHUMP00000234858;OTTHUMP00000234859;OTTHUMP00000234860;multispanning membrane protein (70kD);transmembrane 9 superfamily member 1;transmembrane protein 9 superfamily member 1 protein-coding ENSG00000100926 11864 09987 VALIDATED 1604607 TM9SF3 transmembrane 9 superfamily member 3 10 10 10 q24.1 92020188 92089213 - 98270420 98336799 - 98277867 98346809 - 6480464 11595169;16303743;14702039;12975309;12477932;16385451;21906983;21139048;21890473;21903422;19322201 56889 Q5TB53;Q9HD45 ABBA01021829;AF116347;AF160213;AF269150;AK000756;AK027438;AK027788;AK074824;AK075093;AK075451;AK297721;AK314348;AL138765;AMYH01002971;AY358819;BC020959;BC136788;BC136789;BC144412;CH471066;JQ313908;NM_020123 AAF21983;AAF67014;AAF98159;AAH20959;AAI36789;AAI36790;AAQ89178;BAA91362;BAB55110;BAB55369;BAC11232;BAC11397;BAG60075;EAW49972;EAW49973;EAW49974;NP_064508;Q9HD45 Hs.500674 1658496;1718185;1726927;1736096;1737591;2127041;2173982;2191241 D10S1373E;D10S2156;D16S2675;G62707;MARC_16739-16740:1020435072:1;RH11283;RH122861;RH67979 EP70-P-iso;RP11-34E5.1;SMBP OTTHUMP00000020173;SM-11044 binding protein;SM-11044-binding protein;endomembrane protein emp70 precursor isolog;transmembrane 9 superfamily member 3 protein-coding ENSG00000077147 21529 18073 VALIDATED 1315548 TM7SF3 transmembrane 7 superfamily member 3 12 12 12 q11-q12 32270664 32313491 - 27017390 27058405 - 27124503 27167339 - 1580863;6480464 16344560;15489334;14702039;12477932;10828615;20734064;21139048;21890473;21906983;21853325;21987572;19322201;22505724 51768 F5GWC3;F5GXE1;F5GY35;F5GY59;F5H3K5;F5H4T1;F5H587;F5H7C5;H0YFM3;H0YFT0;H0YFW7;H0YGR1;H0YH23;Q9NS93 AB032470;ABBA01068042;AC024896;AK002031;AK023085;AMYH01004350;BC005176;CH471094;DA719107;NM_016551 AAH05176;BAA92046;BAA92856;BAG51155;EAW96542;NP_057635;Q9NS93 Hs.438641 1664974;1683052;1691124;1713361;1736278;1754433;2128566;2148162;2162695;2218836;5015961;5017599;5022578;5037552 D12S1184E;D12S1233E;D12S1325;D15S1477;D1S1423;D8S2279;RH119535;RH66421;RH80985;RH91481;SHGC-132496;SHGC-33364;TM7SF3;TM7SF3__5273 OTTHUMP00000240505;seven span transmembrane protein;seven transmembrane protein TM7SF3;transmembrane 7 superfamily member 3 protein-coding 23049 05536 605181 VALIDATED 1343017 TM9SF2 transmembrane 9 superfamily member 2 This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012] 13 13 13 q32.3 80998257 81059812 + 98951729 99013279 + 100153728 100215276 + 1580863;2317244;6480464 12730115 9729438;15489334;15231748;15057823;14702039;12477932;9230071;8125298;20379614;22939629;21139048;21903422;16344560;23251661 9375 Q99805 ABBA01027118;ABBA01027119;AK093507;AK129798;AK225800;AK290514;AK315210;AL139035;AMYH01005326;BC110656;BC130293;CH471085;CQ834842;DB024878;JA795166;L13803;NM_004800;U81006 AAB38973;AAI10657;AAI30294;BAF83203;BAG52731;CAH05636;CCO75433;EAX09023;NP_004791;Q99805 Hs.607896 1698366;1738417;2118861 D13S508E;RH102724;SGC32863 FLJ26287;MGC117391;P76 76 kDa membrane protein;OTTHUMP00000018623;transmembrane 9 superfamily member 2;transmembrane protein 9 superfamily member 2 protein-coding 11865 09198 604678 REVIEWED 1605071 TMA16 translation machinery associated 16 homolog (S. cerevisiae) 4 4 4 q32.2 161747938 161773962 + 164635123 164661141 + 164415673 164441691 + 6480464 14702039;12477932;21145461;19615732;17207965;20098747;21832049;19953087;21139048 55319 D6RA57;D6RC31;D6RE67;H0Y9X1;Q96EY4 AA772718;ABBA01070272;AC093788;AK002046;AK298235;AMYH01014665;AW518118;BC005204;BC011842;BC017418;BU159489;BX370094;CH471056;NM_018352 AAH11842;ADQ33172;BAA92053;BAH12740;EAX04836;EAX04837;NP_060822;Q96EY4 Hs.267446 1690402;1696966;2160223 RH101955;RH93364;SHGC-50341 C4orf43;FLJ11184;FLJ52950 OTTHUMP00000220341;OTTHUMP00000220342;OTTHUMP00000220343;OTTHUMP00000220345;UPF0534 protein C4orf43;hypothetical protein LOC55319;translation machinery-associated protein 16 APPROVED protein-coding ENSG00000198498 25638 07739 VALIDATED 1602117 TMBIM4 transmembrane BAX inhibitor motif containing 4 12 12 12 q14.1-q15 66194786 66228037 - 64816984 64850074 - 66530717 66563807 - 6480464 17353931;18440869;17319741;16303743;15489334;12477932;11042152;10931946;10810093;8125298;19553469;23508950;22418439;21103663;23000903 51643 E7EWY5;F5GXT9;F5H1S4;F5H2V2;F6UZH7;G3V1M2;G3V1R8;G3XAA5;Q9HC24 ABBA01026577;AC078927;AF113127;AF151877;AF161526;AF182041;AF182414;AK075069;AK127285;AK225158;AL117550;AMYH01004554;BC004401;BC020613;BC052273;BC070366;BC094852;BG534013;CH471054;CQ783072;NM_016056 AAD34114;AAF14868;AAF29141;AAG14950;AAG16898;AAH04401;AAI48529;AAI56585;BAC11384;CAF86277;EAW97158;EAW97159;EAW97160;EAW97161;EAW97162;NP_057140;Q9HC24 Hs.505934 1665554;1667143;1673191;1789160;2155750 D12S2109;G65712;RH17552;RH78838;SHGC-30825 CGI-119;FLJ45352;GAAP;LFG4;S1R;ZPRO Golgi anti-apoptotic protein;OTTHUMP00000239859;OTTHUMP00000239860;OTTHUMP00000239861;OTTHUMP00000239862;OTTHUMP00000239864;Z-protein;protein lifeguard 4;transmembrane BAX inhibitor motif-containing protein 4 protein-coding 24257 VALIDATED 1605384 TMA7 translation machinery associated 7 homolog (S. cerevisiae) 3 3 3 p21.31 48432457 48436308 + 48456690 48460541 + 48481686 48485537 + 6480464 16096800;15740594;15489334;14702039;22571579;12477932;11042152;21832049 51372 Q9Y2S6 ABBA01024650;ABBA01024651;AC104448;AF077202;AF161448;AK126594;AMYH01013149;AY508979;AY794023;BC001102;BC066333;BC080531;CH471055;NM_015933 AAD26997;AAF29008;AAH80531;AAR87665;AAV40981;ABM86882;ABW03833;EAW64873;EAW64874;NP_057017;Q9Y2S6 Hs.356440 1679766;5037552 D8S2279;RH79795 CCDC72;HSPC016 OTTHUMP00000210127;coiled-coil domain containing 72;coiled-coil domain-containing protein 72;translation machinery-associated protein 7;translational machinery associated 7 homolog APPROVED protein-coding ENSG00000232112 26932 13686 PROVISIONAL 1352795 TMC3 transmembrane channel-like 3 15 15 15 q25.1 58562739 58604696 - 79411815 79453473 - 81624760 81666418 - 1580863;6480464 16572171;12906855;12812529;12477932 342125 H0YK69;Q7Z5M5 ABBA01060637;AC103858;AMYH01006854;AY236490;AY263163;BC132679;BC143410;BC157874;NM_001080532 AAI32680;AAI43411;AAI57875;AAP69868;AAP78778;NP_001074001;Q7Z5M5 Hs.253489 1338589;1760909;1766155;1851028;2166543 D15S1041;D15S1305;SHGC-144659;SHGC-149530;STS-N32157 transmembrane channel-like protein 3 protein-coding 22995 PROVISIONAL 1605964 TMBIM1 transmembrane BAX inhibitor motif containing 1 2 2 2 q35 212905492 212923864 - 218847161 218865524 - 219138917 219157280 - 6480464 16636500;16607040;16303743;15498874;15489334;15278903;14702039;12477932;11996952;18440869;21107705;22939629;21139048;21988832;23128233 64114 B3KSM0;B4DUD2;C9IYT2;C9IZ27;C9JAK9;C9JAP5;C9JDV0;C9JEN3;C9JI44;C9JM62;C9JN47;C9JW19;C9JWV9;F8WDY4;Q969X1 AB257295;ABBA01023875;AC021016;AF173384;AF193045;AK027755;AK075465;AK090618;AK093911;AK130380;AK130713;AK298123;AK298500;AK300597;AMYH01011494;BC007980;BC013428;BC026348;BC026693;BX471120;CA488388;CD514853;CF994144;CH471063;CQ871236;NG_017060;NM_022152 AAG22473;AAH07980;AAH13428;AAH26348;AAH26693;AAQ13625;ABM81925;ABM84708;BAB55346;BAC11636;BAE93467;BAG52198;BAG52782;BAG60403;BAG60707;BAG62294;CAH56799;EAW70607;EAW70608;EAW70609;NP_071435;Q969X1 Hs.591605 1680465;2118190;2126374;2154267;2157852;2161317 RH12007;RH41829;RH68260;RH78114;RH80510;WI-17411 LFG3;MST100;MSTP100;PP1201;RECS1 OTTHUMP00000164137;OTTHUMP00000207318;OTTHUMP00000207319;protein RECS1 homolog;protein lifeguard 3;transmembrane BAX inhibitor motif-containing protein 1 protein-coding ENSG00000135926 23410 17884 610364 VALIDATED 1318596 TMC1 transmembrane channel-like 1 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008] 9 9 q21.12 74326537 74641087 + 75136717 75451267 + 1599440;1580863;6480464;7240710 16287143;15605408;14702039;12812529;12477932;11850623;11850618;8755925;8634715;19187973;18616530;18259073;17877751;20373850;19180119;20379614;20447146;21250555;21252500;20301607;21145461;22288896 117531 Q3MI88;Q8TDI8 ABBA01033860;ABBA01033861;ABBA01033862;ABBA01033863;ABBA01033864;ABBA01033865;AF417578;AK098607;AK307461;AL162416;AL449323;AL590662;AL591662;AMYH01021405;AMYH01021406;BC103955;BC103956;BC114380;BC114449;BC141860;CH471089;NG_008213;NM_138691 AAI03956;AAI03957;AAI14381;AAI41861;AAI56562;AAI72523;AAL86399;BAC05351;EAW62539;EAW62540;EAW62541;NP_619636;Q8TDI8 Hs.670211 1335135;1338278;1341274;1696004;1709140;1713293;1721311;1726933;1759633;1765337;1779708;1787034;2129291;2143147;5094166 D2S2650;D9S1124;D9S1837;D9S1876;G54585;G59654;G62710;RH120638;SHGC-148828;SHGC-151241;SHGC-152476;SHGC-153684;SHGC-3163;SHGC-82771;SHGC-85731 DFNA36;DFNB11;DFNB7 OTTHUMP00000021473;transmembrane channel-like protein 1;transmembrane cochlear-expressed protein 1;transmembrane, cochlear expressed, 1 APPROVED protein-coding ENSG00000165091 16513 05988 600974;606705;606706 REVIEWED 1320766 TMC2 transmembrane channel-like 2 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Jul 2008] 20 20 20 p13 2581686 2686898 + 2465253 2570430 + 2517253 2622430 + 1580863;6480464 18259073;16344560;14702039;12975309;12906855;12812529;12477932;11850618;11780052;11076863;21408207;23251661 117532 Q9BYN4 ABBA01053792;ABBA01053793;ABBA01053794;ABBA01053795;AF417580;AK094789;AK127751;AK294013;AK309782;AK316261;AL049712;AMYH01011668;AY358613;CH471133;DA769512;NM_080751 AAI11451;AAL86401;AAQ88976;BAC04423;BAG57374;BAH14632;EAX10591;EAX10592;EAX10593;NP_542789;Q8TDI7 Hs.352626 1662849;1673248;1693354;1693388;1740313;1775713;5020948;5022200 074WA9;AL034506;AL034535;DXS7958;G35510;L18426;Z94349;Z94495 C20orf145;dJ686C3.3 OTTHUMP00000030020;transmembrane channel-like protein 2;transmembrane cochlear-expressed protein 2;transmembrane, cochlear expressed, 2 APPROVED protein-coding ENSG00000149488 16527 09463 606707 VALIDATED 736097 TMBIM6 transmembrane BAX inhibitor motif containing 6 12 12 q12-q13 48421560 48444984 + 50135293 50158717 + 1580863;2291960;1598407;2291959;2291961;2291958;6480464 12875974;15337562;18005084;17054309 10087504;8530040;19433315;19339548;19290886;19284981;18440869;18378668;18299329;17526500;16353209;16344560;15489334;12477932;10198159;9660918;8889549;8125298;20359348;19913121;20628086;19579059;20123969;21262377;21068390;21297665;21537843;21586565;21601004;21075086;20972266;21139048;21890473;21906983;21545297;21987572;22128171;22418439;22588718;22053931;22505724 7009 B7Z984;F8VPI1;F8VPZ7;F8VQQ5;F8VQW0;F8VR05;F8VSI7;F8VVJ4;F8VX73;F8VY06;F8W034;F8W086;F8W1G3;F8W1V3;F8W201;P55061 AA057740;ABBA01031532;ABBA01031533;AC084037;AC131157;AF033095;AK026605;AK124849;AK130050;AK130462;AK225804;AK299587;AK304577;AK312238;AMYH01004446;AY736129;BC000916;BC036203;BQ613936;CH471111;CQ834362;DA476870;DC319835;DC349385;NM_001098576;NM_003217;X75861 AAB87479;AAH00916;AAH36203;AAU29521;BAG35171;BAG54105;BAH13075;BAH14220;CAA53472;CAH05396;EAW58089;EAW58090;EAW58091;EAW58092;EAW58093;NP_001092046;NP_003208;P55061 Hs.743965 1665024;1739605;1772759;1849620;2111398;2185752;5093676 A009U42;D12S1129E;D12S1479E;G32858;RH11178;RH45303;RH70154 BAXI1;BI-1;TEGT OTTHUMP00000241803;OTTHUMP00000241804;OTTHUMP00000241807;OTTHUMP00000241811;OTTHUMP00000241812;OTTHUMP00000241876;bax inhibitor 1;testis enhanced gene transcript;testis enhanced gene transcript (BAX inhibitor 1);testis-enhanced gene transcript protein;transmembrane BAX inhibitor motif-containing protein 6 protein-coding ENSG00000139644 11723 02851 600748 VALIDATED 1344956 TMCC1P1 transmembrane and coiled-coil domain family 1 pseudogene 1 8 8 8 q23.1 102394100 102396856 - 106276268 106278373 - 106206936 106209692 - 100128132 ABBA01037659;AC021546;AMYH01018947;NG_016605 TMCC1P APPROVED pseudo 31901 INFERRED 1312473 TMC4 transmembrane channel-like 4 19 19 19 q13.42 51705119 51718235 - 59355658 59368664 - 54663833 54676944 - 1580863;6480464 12906855;12812529;12477932 147798 C9JFU4;H7C039;Q7Z404 AA578987;ABBA01068172;AC012314;AK314973;AMYH01009976;AY236492;AY263166;BC025323;BC032477;CH471135;CU151838;CU457734;NM_001145303;NM_144686 AAH25323;AAH32477;AAP69870;AAP78781;ABM83107;ABM86303;BAG37472;EAW72196;EAW72197;EAW72198;NP_001138775;NP_653287;Q7Z404 Hs.355126 1681985;1697682;1734664;1800184;1800412;1804950;1808734;1816904;1820662;1820718;1822458;1828446;1836000;1838472;1845092;1846631;1855201;2041468;2041470;2041472;2041474;2041476;2041478;2041480;2041482;2041484;2041486;2041488;2041490;2041492;2041494;2041496;2041498;2041500;2041502;2041504;2041506;2041508;2041510;2041512;2041514;2041516;2041518;2041520;2041522;2041524;2041526;2041528;2041530;2041532;2041534;2041536;2041538;2041540;2041542;2041544;2041546;2041548;2041550;2041552;2041554;2041556;2041558;2041560;2041562;2041564;2041566;2041568;2041570;2041572;2041574;2103638;2103640;2103642;2103644;2103646;2103648;2103650;2103652;2103654;2103656 A003B05;D19S668E;D2S2687;ECD00949;ECD01066;ECD03415;ECD05349;ECD09501;ECD11406;ECD11434;ECD12317;ECD15349;ECD19161;ECD20410;ECD23763;REN91769;REN91770;REN91771;REN91772;REN91773;REN91774;REN91775;REN91776;REN91777;REN91778;REN91779;REN91780;REN91781;REN91782;REN91783;REN91784;REN91785;REN91786;REN91787;REN91788;REN91789;REN91790;REN91791;REN91792;REN91793;REN91794;REN91795;REN91796;REN91797;REN91798;REN91799;REN91800;REN91801;REN91802;REN91803;REN91804;REN91805;REN91806;REN91807;REN91808;REN91809;REN91810;REN91811;REN91812;REN91813;REN91814;REN91815;REN91816;REN91817;REN91818;REN91819;REN91820;REN91821;REN91822;RH102357;RH93451;stSG605836;stSG605837;stSG605839;stSG605840;stSG605841;stSG605842;stSG605844;stSG605845;stSG605846;stSG605847 MGC39329 OTTHUMP00000069305;OTTHUMP00000081757;transmembrane channel-like protein 4 protein-coding ENSG00000167608 22998 15515 VALIDATED 1346306 TMCC2 transmembrane and coiled-coil domain family 2 1 1 1 q32.1 178332120 178377550 + 203463714 203509093 + 205197038 205242471 + 737633;1580863;6480464 12477932 15345747;14702039;12975309;12168954;9455484;19019082;16169070;19820697;8889548;8889549;21832049;22139419 9911 A6NJC0;G5E963;O75069 AB001596;AB007950;ABBA01027421;ABBA01027422;ABBA01027423;ABBA01027424;AC093422;AK095816;AK131419;AK293734;AK314398;AMYH01001668;AMYH01001669;AMYH01001670;AY358192;BC041019;BC053876;BC131629;BM674135;CA313737;CH471067;DC309246;NM_001242925;NM_014858;T51366 AAH41019;AAH53876;AAI31630;AAQ88559;BAA32326;BAB46924;BAD18566;BAG37022;BAG53139;BAH11583;EAW91545;EAW91546;EAW91547;EAW91548;NP_001229854;NP_055673;O75069 Hs.6360 1649502;1725725;1730281;1850336;2129309;2139614 A001X19;D1S2382;D1S269E;D1S3016;G62057;RH64506 FLJ38497;HUCEP11;KIAA0481 OTTHUMP00000035315;cerebral protein 11;transmembrane and coiled-coil domains 2;transmembrane and coiled-coil domains protein 2 protein-coding ENSG00000133069 24239 11040 VALIDATED 1349742 TMCC1 transmembrane and coiled-coil domain family 1 3 3 3 q22.1 127793335 128039062 - 130849325 131081999 - 129366635 129612419 - 737633;1580863;6480464 12477932 17081983;16344560;15489334;12107410;9872452;20379614;8889549;21139048;21906983 23023 B4DE04;D6RBT7;D6RH19;E9PC87;O94876;Q6N039 AA285018;AB018322;ABBA01059214;ABBA01059215;ABBA01059216;ABBA01059217;ABBA01059218;ABBA01059219;ABBA01059220;ABBA01059221;ABBA01059222;ABBA01059223;ABBA01059224;AC023162;AC083799;AC117492;AI609644;AK124671;AK291448;AK293408;AL449209;AMYH01013479;AMYH01013480;AMYH01013481;AMYH01013482;BC012480;BC030619;BC034284;BC039859;BC047517;BM504779;BX640712;CA389758;CA867002;CH471052;CR749206;DB085398;NM_001017395;NM_001128224;NR_033361 AAH34284;AAH39859;BAA34499;BAF84137;BAG54066;BAG56915;CAE45831;CAH18064;EAW79231;EAW79232;EAW79233;EAW79234;EAW79235;EAW79236;NP_001017395;NP_001121696;O94876 Hs.477547 1648526;1654601;1661916;1719137;1735144;1735202;1738883;1738885;1752625;1847777;1857494;2121299;2126628;2131421;2132423 1112;D3S2803E;D3S2862E;D3S3166;D3S3169;D3S4022;RH11866;RH12222;RH123286;SGC30652;SHGC-106440;SHGC-77336;SHGC-77337;STS-N41038;WI-13993 DKFZp686M0169;FLJ42680 OTTHUMP00000215937;transmembrane and coiled-coil domains 1;transmembrane and coiled-coil domains protein 1 protein-coding ENSG00000172765 29116 15518 VALIDATED 1346901 TMCC3 transmembrane and coiled-coil domain family 3 12 12 12 q22 94632124 94715494 - 93486168 93568455 - 94960900 95044324 - 737633;1580863;6480464 12477932 15489334;10737800;10574462;10574461;21145461;20306291;20379614 57458 F8VQF2;G3V207;Q9ULS5 AB032971;AB073655;ABBA01053361;AC026672;AI361720;AMYH01004662;BC040535;BE158711;CA772279;CH471054;NM_020698 AAH40535;ACE86615;ACE87296;BAA86459;EAW97510;EAW97511;EAW97512;NP_065749;Q9ULS5 Hs.370410 1652328;1664575;1664577;1736214;1743243;1768380;1778205;2145820;2145822;2167831;2186349;2186351;5093154 A002A23;A005Z04;A009H35;D12S1159E;D12S1854;G19852;G20612;G32552;GDB:312698;RH45150;SHGC-16729;STS-Z41138;WI-20062 KIAA1145 OTTHUMP00000243322;OTTHUMP00000243323;transmembrane and coiled-coil domains 3;transmembrane and coiled-coil domains protein 3 protein-coding ENSG00000057704 29199 15519 VALIDATED 1315994 TMC5 transmembrane channel-like 5 16 16 16 p12.3 18570439 18659459 + 19329558 19417936 + 19422057 19510435 + 1580863;6480464 18649358;14702039;12975309;12906855;12812529;12477932;20379614;16344560 79838 B7Z946;F5GYU8;H3BN68;I3L0P3;I3L469;Q6UXY8 ABBA01028261;ABBA01028262;ABBA01028263;AC130456;AI738488;AK023655;AK093944;AK097718;AK131202;AK299055;AK304431;AMYH01007321;AMYH01007322;AMYH01007323;AY236494;AY263164;AY358155;BC027602;BC038118;BC070101;CH471186;CR749359;DB222660;NM_001105248;NM_001105249;NM_001261841;NM_024780 AAH27602;AAH38118;AAP69872;AAP78779;AAQ88522;BAB14629;BAG52791;BAG53520;BAG54750;BAH12939;BAH14182;CAH18212;EAW50279;EAW50280;EAW50281;NP_001098718;NP_001098719;NP_001248770;NP_079056;Q6UXY8 Hs.115838 1340954;1666970;1679019;1737587;2167623;5017441;5037552 D16S2673;D16S490;D8S2279;RH16576;RH65513;RH93186;TTAT023 FLJ13593 OTTHUMP00000162160;OTTHUMP00000162161;transmembrane channel-like protein 5 protein-coding ENSG00000103534 22999 15516 VALIDATED 1344679 TMC7 transmembrane channel-like 7 16 16 16 p12.3 18143493 18223144 + 18902828 18982004 + 18995256 19075264 + 1580863;6480464 22566498;16344560;14702039;12906855;12812529;12477932;21906983 79905 E7ERB6;H3BNW8;Q7Z402 ABBA01028252;ABBA01028253;ABBA01028254;ABBA01028255;ABBA01028256;AC099518;AF088010;AK024893;AK094664;AK293874;AMYH01007315;AMYH01007316;AY236498;AY263165;BC036205;BC047719;CH471186;CR933669;DA161026;NM_001160364;NM_024847 AAH36205;AAH47719;AAP69876;AAP78780;BAB15032;BAG52905;BAG57263;CAI45966;EAW50266;EAW50267;NP_001153836;NP_079123;Q7Z402 Hs.187377;Hs.531661 1337468;1685459;5015961;7187394 D15S1477;D16S410;RH92994 DKFZp781O2274;FLJ21240 OTTHUMP00000162158;transmembrane channel-like protein 7 protein-coding ENSG00000170537 23000 15517 VALIDATED 1353841 TMC8 transmembrane channel-like 8 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008] 17 17 q25.3 73638464 73649033 + 76126859 76139049 + 6480464;7240710 18224692;18158319;17960179;17711520;17081983;15489334;14702039;12906855;12812529;12477932;12426567;10844558;19706093;21196704;22761942;21387292;22158547;22903682;23429285 147138 B3KXZ8;K7EJ72;Q8IU68 ABBA01002943;AC021593;AK090478;AK097987;AK125672;AK128327;AK303499;AK310623;AL834508;AMYH01008663;AY057380;AY099358;AY099359;AY236500;BC028076;BC110296;BC141865;CH471099;DC407759;NG_007881;NM_152468 AAI10297;AAI41866;AAL25837;AAM44454;AAM44455;AAP69878;BAC03459;BAG54660;BAG64532;EAW89494;EAW89495;EAW89496;EAW89497;NP_689681;Q8IU68 Hs.592102 EV2;EVER2;EVIN2;FLJ40668;FLJ43684;MGC102701;MGC40121 epidermodysplasia verruciformis 2;epidermodysplasia verruciformis protein 2;transmembrane channel-like protein 8 APPROVED protein-coding ENSG00000167895 20474 08387 226400;605829 REVIEWED 1351267 TMC6 transmembrane channel-like 6 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008] 17 17 q25.3 73620594 73640083 - 76108999 76128488 - 6480464;7240710 10844558;18158319;17081983;17008061;16487602;15489334;15042430;14702039;12906855;12812529;12477932;12426567;10084299;19706093;22761942;21387292;21906983;21963094;23400010 11322 K7ELP1;K7ENC4;K7ENM6;K7ERH0;Q7Z403 AB002405;ABBA01002943;ABBA01002944;AC021593;AK021738;AK074065;AK096076;AK303165;AK303584;AK310734;AMYH01008662;AMYH01008663;AY057379;AY099356;AY099357;AY236496;BC007766;BC018346;BC023597;BC035648;CH471099;DQ104440;NG_007879;NM_001127198;NM_007267 AAH07766;AAH18346;AAH23597;AAH35648;AAL25836;AAM44452;AAM44453;AAP69874;AAZ20186;ABM83242;ABM86444;BAA24179;BAB13884;BAB84891;BAG53207;BAG64265;BAG64602;EAW89487;EAW89488;EAW89489;EAW89490;EAW89491;EAW89492;EAW89493;NP_001120670;NP_009198;Q7Z403 Hs.632227 1335074;1338539;1340537;1341087;5015619;5024756 D11S3114;D17S1802;D17S1839;D17S802;D17S939;RH80030 EV1;EVER1;EVIN1;FLJ17776;LAK-4P epidermodysplasia verruciformis 1;epidermodysplasia verruciformis protein 1;expressed in activated T/LAK lymphocytes;protein LAK-4;transmembrane channel-like protein 6 APPROVED protein-coding ENSG00000141524 18021 08386 226400;605828 REVIEWED 2306722 TMCO5B transmembrane and coiled-coil domains 5B, pseudogene 15 15 15 q13.3 10335413 10340485 - 31321027 31373562 - 33528677 33539756 - 19096130;16572171;16344560 100652857 A8MYB1 ABBA01038558;ABBA01038559;AC055874;AK098530;AMYH01006505;DB054691;NR_046005 A8MYB1 Hs.439998 FLJ25664 transmembrane and coiled-coil domain-containing protein 5B;transmembrane and coiled-coil domains 5B APPROVED pseudo 34243 VALIDATED 1606122 TMCO4 transmembrane and coiled-coil domains 4 1 1 1 p36.13 18335477 18453240 - 19881320 19998997 - 20008706 20126410 - 6480464 12477932;8889548;20379614 255104 Q5TGY1;Q6ZSC6 ABBA01059767;ABBA01059768;AK127543;AK309310;AK309900;AL031727;AL031730;AL049846;AL049847;AL391883;AL832390;AMYH01000317;AX775873;AX775875;AX775877;BC053600;BM974434;BX640987;CH471134;NM_181719 AAH53600;ACE86940;ACE87628;BAC87027;CAB42850;CAB42851;CAE11636;CAE11637;CAE11638;CAE45994;EAW94897;EAW94898;EAW94899;EAW94900;EAW94901;EAW94902;EAW94903;NP_859070;Q5TGY1 Hs.656313 1692490;1733146;1733166;1781550;2114330;2187799 AL033896;D1S1457;D1S1470;G69459;SHGC-144247;SHGC-74314 DKFZp686C23231;RP5-1056L3.6 OTTHUMP00000002783;OTTHUMP00000002784;transmembrane and coiled-coil domain-containing protein 4 protein-coding ENSG00000162542 27393 14140 VALIDATED 1606151 TMCO5A transmembrane and coiled-coil domains 5A 15 15 15 q14 14993884 15010043 + 36014749 36030915 + 38227457 38243623 + 6480464 14702039;12477932;19679847;21577013 145942 F5H0U8;H0YL40;H0YLD3;H0YLN2;H0YLW5;H0YMD4;Q8N6Q1 ABBA01038487;AC091005;AK093126;AK310517;AMYH01006550;BC029221;CH471125;HC007158;HC044837;NM_152453 AAH29221;BAC04065;CBH19384;CBH30748;EAW92362;EAW92363;NP_689666;Q8N6Q1 Hs.179646 FLJ35807;MGC35118;TMCO5 OTTHUMP00000160215;transmembrane and coiled-coil domain-containing protein 5A;transmembrane and coiled-coil domains 5 protein-coding ENSG00000166069 28558 11341 PROVISIONAL 1606664 TMED10P1 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 8 8 8 q24.3 142397287 142401319 + 146191076 146192348 + 146220251 146224283 + 10376215;8663407 286102 ABBA01005192;AF235103;AJ004914;AMYH01019164;NR_002807;X97444 Hs.744580 1668899;1690746;2138936 A002E08;A002P02;RH44072 TMED10P;Tmp21-II APPROVED pseudo 30754 PROVISIONAL 3207497 TMED10P2 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2 3 3 3 q21.3 126684829 126685443 + 129739550 129740164 + 128256860 128257474 + 100129727 ABBA01020898;AC080005;AMYH01013463;NG_023009 pseudo 38105 INFERRED 1603584 TMCO2 transmembrane and coiled-coil domains 2 1 1 1 p34.2 38995962 38999753 + 40486160 40489950 + 40713573 40717365 + 6480464 16710414;15489334;12477932 127391 Q7Z6W1 ABBA01023180;ABBA01023181;AL050341;AMYH01000533;BC108666;BU567634;BU569147;CH471059;DB518323;HC006910;HC044827;NM_001008740 AAI08667;CBH19260;CBH30743;EAX07235;NP_001008740;Q7Z6W1 Hs.406265 1339357;1689119 D1S2743;RH92561 MGC131705;dJ39G22.2 OTTHUMP00000006396;dJ39G22.2 (novel protein);transmembrane and coiled-coil domain-containing protein 2 protein-coding ENSG00000188800 23312 18369 VALIDATED 2946886 TMED11P transmembrane emp24 protein transport domain containing 11, pseudogene 4 4 p16.3 1043419 1051386 - 1108985 1116952 - 6480464 11329013;19429673;19566487 100379220 AA887029;ABBA01019357;AC092535;AMYH01013850;BG190838;BG215779;DY654917;NR_033768 Hs.635208 pseudo ENSG00000215367 35401 VALIDATED 1315285 TMCO3 transmembrane and coiled-coil domains 3 13 13 13 q34 94973299 95032110 + 113193309 113252545 + 114145308 114204544 + 6480464 16344560;15489334;15057823;14702039;12975309;12477932;20029029;21906983;21963094;19322201 55002 Q6UWJ1 ABBA01019870;ABBA01019871;AF209505;AK000630;AK074415;AL442125;AMYH01005402;AMYH01005403;AY358768;BC012564;BC068515;CH471085;DA803233;NM_017905 AAH12564;AAH68515;AAM92892;AAQ89128;BAA91295;BAB85074;EAX09212;EAX09213;EAX09214;EAX09215;NP_060375;Q6UWJ1 Hs.317593 2168121 RH78830 C13orf11;FLJ20623 B230339H12Rik;OTTHUMP00000018770;chromosome 13 open reading frame 11;putative LAG1-interacting protein;transmembrane and coiled-coil domain-containing protein 3 protein-coding ENSG00000150403 20329 12612 VALIDATED 1605060 TMCO6 transmembrane and coiled-coil domains 6 5 5 5 q31.3 136095757 136101734 + 139999196 140005173 + 140019012 140024989 + 6480464 16344560;14702039;12477932;16189514;19423540;19729601;20406964;20438785 55374 D6R986;D6REQ9;D6REY4;E7ESN7;Q96DC7 AA398902;ABBA01026423;AC116353;AK097088;AK289495;AK301502;AK308722;AMYH01015661;BC001910;BC009618;BC065828;BQ066786;CH471062;DA035906;NM_018502 AAH01910;AAH09618;ABM81913;ABM85089;BAF82184;BAG63013;EAW62032;EAW62033;EAW62034;EAW62035;EAW62036;NP_060972;Q96DC7 Hs.534333 1657850;2175572;5093984 A010A06;G33038;RH78253 FLJ39769;PRO1580 OTTHUMP00000159877;OTTHUMP00000159878;transmembrane and coiled-coil domain-containing protein 6 protein-coding ENSG00000113119 28814 15177 PROVISIONAL 1347293 TMED3 transmembrane emp24 protein transport domain containing 3 15 15 15 q24-q25 56540059 56551758 + 77390546 77402244 + 79603491 79615189 + 737633;6480464 12477932 15489334;12975309;8125298;11739402;12237308;22761906 23423 F5H4M7;G3V1J9;Q9Y3Q3 ABBA01060605;AC011797;AC027811;AJ132270;AK075529;AK222516;AK289434;AK297710;AK304148;AL109672;AL109673;AMYH01006846;AY358974;BC000027;BC010853;BC017495;BC022232;BC111547;CH471136;CR457384;NM_007364 AAH00027;AAH10853;AAH17495;AAH22232;AAI11548;AAQ89333;BAC11674;BAD96236;BAF82123;BAG60067;BAG65039;CAB40416;CAB52017;CAB52018;CAG33665;EAW99138;EAW99139;NP_031390;Q9Y3Q3 Hs.513058 1686857;2131488;2139214;2152376;2153575;5018031 A004H32;P24B_(-249G>T);RH1638;RH48894;RH78006;WI-15355 C15orf22;MGC133022;P24B;p26 1200002G13Rik;OTTHUMP00000185563;integral type I protein;membrane protein p24B;p24 family protein gamma-4;p24gamma4;transmembrane emp24 domain containing 3;transmembrane emp24 domain-containing protein 3 protein-coding ENSG00000166557 28889 18200 VALIDATED 1354453 TMED1 transmembrane emp24 protein transport domain containing 1 This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 19 p13.2 10837959 10841828 - 10804114 10807983 - 10943114 10946983 - 1580863;6480464 8621446;15489334;15231748;15057824;12477932;11466339;12237308;21963094;23246001;23319592;9472029 11018 K7EIN4;K7EIR1;K7EQ63;K7ER03;K7ERK5;K7ES06;Q13445 ABBA01029894;AC007229;AMYH01009480;AW389310;BC002443;BC018831;BF794897;BI793229;CH471106;HY012010;NM_006858;NR_104015;U41804 AAC50419;AAD23605;AAH02443;ABM83566;ABM86804;EAW84152;NP_006849;Q13445 Hs.211463;Hs.515139;Hs.661691 1796094 IL1RL1LG_155 IL1RL1LG;Il1rl1l;MGC1270;ST2L;Tp24 IL1RL1-binding protein;T1/ST2 receptor binding protein;interleukin 1 receptor-like 1 ligand;interleukin-1 receptor-like 1 ligand;p24 family protein gamma-1;p24gamma1;putative T1/ST2 receptor-binding protein;transmembrane emp24 domain containing 1;transmembrane emp24 domain-containing protein 1 APPROVED protein-coding ENSG00000099203 17291 05653 605395 REVIEWED 1601866 TMCO1 transmembrane and coiled-coil domains 1 This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 1 1 1 q22-q25 138798944 138843546 - 163963131 164004712 - 165693528 165738159 - 6480464 12477932;9110174;8619474;17081983;16710414;16565220;15489334;15146197;14702039;12975309;10393320;19536175;20018682;21532571;22939629;15342556;21903422;21139048;21890473;21906983;20639865;19322201;22570627;22714896;21963094;23000965;22505724 54499 B7Z591;J3KS45;J3KTQ7;J3QQY2;J3QRB3;J9JIE6;Q9UM00 AB020980;ABBA01047274;ABBA01047275;ABBA01047276;ABBA01047277;ABBA01047278;AF070626;AF274935;AF277194;AI379550;AK298614;AK316080;AK316610;AL451074;AMYH01001472;AY359027;AY763589;BC000104;BG772940;BP257387;CH471067;CN430121;NG_032004;NM_001256164;NM_001256165;NM_019026;NR_045818 AAC25388;AAH00104;AAK07514;AAK07549;AAQ89386;AAV34755;BAA86974;BAG38197;BAH12827;BAH14451;EAW90762;EAW90763;EAW90764;EAW90765;NP_001243093;NP_001243094;NP_061899;Q9UM00 Hs.31498 1669232;1851731;1857544;5017572 RH69472;TMCO1;WI-14174;WI-16096 CFSMR;HP10122;PCIA3;PNAS-136;RP11-466F5.7;TMCC4 OTTHUMP00000032603;putative membrane protein;transmembrane and coiled-coil domain-containing protein 1;transmembrane and coiled-coil domains 4;transmembrane and coiled-coil domains protein 4;xenogeneic cross-immune protein PCIA3 APPROVED protein-coding 18188 14243 614123;614132 REVIEWED 1346090 TMED6 transmembrane emp24 protein transport domain containing 6 16 16 16 q22.1 53891689 53900252 - 67934661 67943190 - 69377149 69385712 - 737633;1580863;6480464 12477932 15489334;12975309 146456 Q8WW62 AA804957;ABBA01025527;AC026464;AMYH01007767;AY358268;BC020827;BI600655;CH471092;CS300673;NM_144676 AAH20827;AAQ88635;ABM82323;ABM85502;CAK32337;EAW83272;NP_653277;Q8WW62 Hs.729118 1675425;1690234;1782584 RH92410;RH94251;SHGC-112423 MGC23911;PRO34237;SPLL9146 OTTHUMP00000174892;p24 family protein gamma-5;p24gamma5;transmembrane emp24 domain-containing protein 6 protein-coding ENSG00000157315 28331 15520 VALIDATED 1349482 TMED5 transmembrane emp24 protein transport domain containing 5 1 1 1 pter-q31.3 91869455 91900413 - 93389999 93418834 - 93615299 93646246 - 737633;1580863;6480464 12477932 15308636;16710414;15489334;12975309;10810093;18549622;8889548;17207965;19948005;21139048;21906983 50999 B1AKT3;M0R072;Q9Y3A6 ABBA01045526;AC126124;AF151858;AK125882;AK293308;AK312787;AL080084;AL117354;AMYH01000801;AY359039;BC016365;BC016556;BC023274;BC038511;BC070051;BX642274;CA314982;CH471097;CR936808;NM_001167830;NM_016040;NR_030761 AAD34095;AAH16365;AAH16556;AAH38511;AAH70051;AAQ89398;ADQ31881;BAG35650;BAG56828;EAW73081;EAW73082;NP_001161302;NP_057124;Q9Y3A6 Hs.482873 1665420;1696218;1849485;1855799;2120768;2130207;2132375;2132516;2134147;2150450;5014029;5015861;5016478;7185938 AL009805;D10S16;D13S1639;D1S309E;G29243;GDB:434012;HUM0S14E06;RH64504;RH66180;RH68402;SHGC-75141;SHGC-78762;WI-20561 CGI-100;DKFZp781B2248;RP5-976O13.2;p28 OTTHUMP00000011847;OTTHUMP00000012323;OTTHUMP00000012324;p24 family protein gamma-2;p24gamma2;transmembrane emp24 domain-containing protein 5 protein-coding ENSG00000117500 24251 13028 VALIDATED 735876 TMED2 transmembrane emp24 domain trafficking protein 2 12 12 12 q24.31 123665514 123679126 + 122635029 122648641 + 124069076 124082688 + 6480464 11703931;10214941;8703076;8663407;11739402;16641999;15308636;17693410;15489334;12477932;18029348;20361938;21219331;12237308;10761932;18287528;22939629;10359607;19322201;20360068;22212250;21139048 10959 E7EQ72;F5GX39;Q15363;Q6FHT8 ABBA01060397;AC055713;AK024976;AK298167;AK303189;AK312975;AMYH01004841;BC025957;BI086507;CH471054;CR541663;CR541682;NM_006815;X92098 AAH25957;BAG35812;BAG60439;BAG64282;CAA63069;CAG46464;CAG46483;EAW98417;EAW98418;NP_006806;Q15363 Hs.733403 1644315;1665566;1680048;2124286;2130922 D6S1166E;D9S2014;RH124;SGC31333;WI-15890 FLJ21323;P24A;RNP24;p24 OTTHUMP00000239192;OTTHUMP00000239194;coated vesicle membrane protein;membrane protein p24A;p24 family protein beta-1;p24beta1;transmembrane emp24 domain-containing protein 2 protein-coding ENSG00000086598 16996 17984 VALIDATED 1342694 TMED7 transmembrane emp24 protein transport domain containing 7 5 5 5 q22.3 110898179 110911150 - 114977102 114989595 - 114948905 114961876 - 737633;1580863;6480464 12477932 16344560;16303743;15489334;14702039;10810093;9490301;17207965;21048031;12237308;10359607;21906983;19322201;22426228 51014 G3V2Y2;Q9Y3B3 AB002450;AB002451;ABBA01069032;AC010226;AK027512;AK074962;AK304210;AMYH01015563;BC019349;BC107426;CH471086;CQ783319;CQ783782;DB152125;DC321837;NM_181836 AAH19349;AAI07427;ADQ31606;BAB55166;BAC11318;BAG65083;CAF86531;CAF86859;EAW48959;NP_861974;Q9Y3B3 Hs.642817;Hs.744008 1674474;1735434;1857883;2166959 D5S1568E;D5S1751;D5S2628;RH16469 CGI-109;FLJ57776;FLJ90481;p27 OTTHUMP00000162867;OTTHUMP00000162868;p24 family protein gamma-3;p24gamma3;transmembrane emp24 domain-containing protein 7 protein-coding ENSG00000134970 24253 13029 VALIDATED 731656 TMED10 transmembrane emp24-like trafficking protein 10 (yeast) This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008] 14 14 q24.3 74667924 74713102 - 75598171 75643349 - 2317276;6480464 18652896 16641999;15308636;19046380;18405662;17081065;15489334;15146197;14702039;12508121;12477932;11739402;11689559;10376215;8663407;8125298;7596406;11703931;10214941;11726511;21319273;21454541;20164256;20546612;19343178;19710022;21699748;12237308;21219331;22939629;23383273;16595549;21875946;10052452;10761932;10359607;22204304;18457437;18781797;22299712;21139048;21890473;21906983;9751720;22190034 10972 G3V2K7;P49755 ABBA01030704;ABBA01030705;ABBA01030706;ABBA01030707;AC007055;AJ004913;AK023615;AK056156;AK222972;AK296800;AK302920;AK308864;AK310371;AK312384;AL049780;AL691403;AL832012;AMYH01005857;AMYH01005858;BC001496;BC001825;BG675810;BX248754;BX504393;CH471061;CN420777;DB528262;L40391;L40397;NM_006827;U61734;X97442 AAB03625;AAC42003;AAD31941;AAH01496;AAH01825;ADZ15823;BAD96692;BAG35302;BAG59374;BAG64085;CAA06213;CAA66071;CAD66561;CAD89913;EAW81223;EAW81224;EAW81225;NP_006818;P49755 Hs.74137 1668899;1690746;2123170;2126416;2138936;2179585;5015861;5126356;7185938 A002E08;A002P02;D10S16;G35874;RH44072;RH45000;RH66374;SGC31604 P24(DELTA);S31I125;S31III125;TMP21;Tmp-21-I;p23 21 kDa transmembrane trafficking protein;21 kDa transmembrane-trafficking protein;OTTHUMP00000246815;p24 family protein delta-1;p24delta;p24delta1;transmembrane emp24 domain-containing protein 10;transmembrane protein Tmp21 APPROVED protein-coding ENSG00000170348 16998 12013 605406 REVIEWED 2837468 TMED7-TICAM2 TMED7-TICAM2 readthrough This locus represents naturally occurring read-through transcription between the neighboring transmembrane emp24 protein transport domain containing 7 (TMED7) and toll-like receptor adaptor molecule 2 (TICAM2) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. This fusion product functions to negatively regulate the adaptor MyD88-independent toll-like receptor 4 pathway. [provided by RefSeq, Nov 2010] 5 5 110863614 110911150 - 114914339 114961876 - 6484113 12477932;12721283;16303743;19412184;20967262;21906983;21963094 100302736 Q86XR7;Q9Y3B3 ABBA01069032;AC010226;AK075218;AMYH01015563;AY275836;AY304581;AY304583;AY304584;BC064944;CH471086;NM_001164468;NM_001164469 AAP81748;AAQ97430;AAQ97432;AAQ97433;BAC11479;EAW48961;NP_001157940;NP_001157941 Hs.718838 1643912;1674474;1684868;1700582;1722603;1735434;1857883;2113796;2150059;2166959;2218826 AB055258;D5S1568E;D5S1751;D5S2628;G60385;RH103913;RH16469;RH93272;SHGC-56897;TIRP__5265;WI-11806 FLJ90737;TAG OTTHUMP00000162868;OTTHUMP00000219409;TMED7-TICAM2 read-through transcript;TRAM adaptor with GOLD domain APPROVED protein-coding ENSG00000243414;ENSG00000251201 33945 VALIDATED 1352955 TMED4 transmembrane emp24 protein transport domain containing 4 7 7 7 p13 44717606 44720671 - 44585287 44588352 - 44618762 44621827 - 1331357;1580863;6480464 12761501 18326488;16381901;16303743;15489336;15489334;12690205;12477932;11230166;11076863;8076819;22939629;20360068;21139048;21890473;21906983;19322201;20682791;22190034 222068 F8W7F7;Q7Z7H5 AACC02000110;AB097009;ABBA01058223;AC004938;AK074557;AK290125;AK294122;AMYH01017211;AY191223;BC001576;BC025705;BC035467;BC052641;BC053583;BC057851;BX647965;CH236960;CH471128;NM_182547 AAH52641;AAH57851;AAP20105;BAC11058;BAC77362;BAF82814;BAG57455;CAL38079;CAL38591;EAL23751;EAW61090;EAW61091;EAW61092;NP_872353;Q7Z7H5 Hs.598832;Hs.715273 1852265;2145375;2177595;5015861;5015961;5016478;5016781;5020881;5020944;5037552;7185938 AF044685;D10S16;D15S1477;D7S2329;D8S2279;GDB:434012;L17709;RH16159;SGC33863;SHGC-67307 ERS25;HNLF GMP25iso;OTTHUMP00000159498;OTTHUMP00000207699;OTTHUMP00000207700;endoplasmic reticulum stress-response protein 25 kDa;p24 family protein alpha-3;p24alpha3;putative NF-kappa-B-activating protein 156;putative NFkB activating protein HNLF;transmembrane emp24 domain-containing protein 4 protein-coding 22301 13666 612038 PROVISIONAL 1344143 TMED9 transmembrane emp24 protein transport domain containing 9 5 5 5 q35.3 171479350 171483233 - 176951819 176955714 + 177019213 177023108 + 737633;6480464 12477932 15308636;15489334;12754519;10744732;1918067;12237308;18287528;16595549;22939629;9527489;18457437;21987572;21139048;21890473;21906983;21963094;21988832;23000965;23246001;23251661;9472029;22190034 54732 Q9BVK6 ABBA01033450;AC139795;AF441399;AK298435;AK313292;AMYH01015877;BC001123;BG830564;BX640856;CH471195;NM_017510;X90872 AAH01123;AAL35268;BAG36099;BAG60656;CAA62380;EAW84966;EAW84967;EAW84968;NP_059980;Q9BVK6 Hs.279929 1740521;1780738;2115735;2150941;2182768 A002O39;D5S2312E;RH12840;STS-X90872;bac51873S GMP25;HSGP25L2G;p25 OTTHUMP00000161452;glycoprotein 25L2;gp25L2 protein;p24 family protein alpha-2;p24alpha2;transmembrane emp24 domain-containing protein 9 protein-coding ENSG00000184840 24878 09975 VALIDATED 735335 TMEFF1 transmembrane protein with EGF-like and two follistatin-like domains 1 9 9 9 q31 73748953 73853138 + 102275538 102379735 + 103235520 103339918 + 6480464 14563676;12743596;12477932;9730596;8752111;20583170 8577 Q8IYR6 ABBA01042885;AL353805;AL354917;AMYH01021572;BC021991;BC035056;BF436262;CH471105;DN602026;NM_003692 AAH35056;ABM82658;ABM85835;EAW58936;NP_003683;Q8IYR6 Hs.598100 1338090;1648421;1716709;1772087;2108577;2170843;2170845;2181992 A007J17;D9S1857;D9S2032;RH121613;RH47334;RH47356;SHGC-57676;TMEFF1_8835 C9orf2;CT120.1;H7365;TR-1 OTTHUMP00000021798;OTTHUMP00000220352;TR-1;cancer/testis antigen family 120, member 1;tomoregulin-1;transmembrane protein with EGF-like and one follistatin-like domain protein-coding ENSG00000241697 11866 04570 603421 VALIDATED 1347349 TMED8 transmembrane emp24 protein transport domain containing 8 14 14 14 q24.3 57846691 57881972 - 76877867 76913149 - 77808114 77843396 - 6480464 18029348;15489334;15334068;14702039;12508121;12477932;21890473 283578 Q6PL24;Q86T10 ABBA01030653;ABBA01030654;AC007954;AK025695;AK095650;AMYH01005881;AMYH01005882;AY598329;BC101510;BX248262;CH471061;NM_213601 AAF62560;AAI01511;AAT06740;BAG53098;CAD62590;EAW81282;EAW81283;NP_998766;Q6PL24 Hs.200413;Hs.744020 1646126;1681149;1772997;1854238;2140862;2142534;5124041 G35470;G36038;G36133;G36154;RH80645;RH99083;SHGC-35865 FAM15B;MGC126559 OTTHUMP00000246416;family with sequence similarity 15, member B;protein TMED8;transmembrane emp24 domain containing 8 protein-coding 18633 18201 PROVISIONAL 1602279 TMEM105 transmembrane protein 105 17 17 17 q25.3 75919806 75939206 - 76899669 76919069 - 79285070 79304474 - 14702039 284186 I3L4P7;Q8N8V8 ABBA01032138;AC027601;AK096111;AMYH01008709;BM998205;CH471099;NM_178520 BAC04703;EAW89647;NP_848615;Q8N8V8 Hs.364191 5037552 D8S2279 FLJ38792 transmembrane protein 105 protein-coding ENSG00000185332 26794 08247 VALIDATED 1601840 TMEM101 transmembrane protein 101 17 17 17 q21.31 38796644 38800433 - 39444082 39447871 - 42088556 42092345 - 6480464 12761501;15489334;12477932;17207965;20532202;19322201 84336 B4DFS4;K7EM07;K7EM72;K7EPU9;K7ERS4;Q96IK0 AB097008;ABBA01028392;AC023855;AK130810;AK172826;AK294237;AK313855;AMYH01008410;BC007438;CH471178;NM_032376 AAH07438;ADQ31859;BAC77361;BAG36583;BAG57535;EAW51641;EAW51642;NP_115752;Q96IK0 Hs.514211 2169527;2170276;2189421 G11824;MARC_5499-5500:991939653:1;RH18333 FLJ23987;MGC4251 putative NF-kappa-B-activating protein 130;transmembrane protein 101 protein-coding ENSG00000091947 28653 14623 PROVISIONAL 1602475 TMEM100 transmembrane protein 100 17 17 17 q22 50258761 50271259 - 51151987 51164481 - 53796988 53809482 - 6480464 22223368;19058789;16344560;15489334;14702039;12477932;16712791;22021425;22505724 55273 I3L214;Q9NV29 ABBA01041295;ABBA01041296;AC009837;AK001832;AK095175;AMYH01008491;BC010128;BQ027747;CB152959;CH471109;DA579336;DA896013;NM_001099640;NM_018286 AAH10128;BAA91931;BAG52999;EAW94537;EAW94538;EAW94539;NP_001093110;NP_060756;Q9NV29 Hs.173233 1340958;2130599 D17S1607;RH47271 FLJ10970;FLJ37856 transmembrane protein 100 protein-coding ENSG00000166292 25607 07719 VALIDATED 1318843 TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 2 2 q32.3 192522988 192767889 - 192814743 193059644 - 2290485;2290486;2290490;2290489;6480464 16500022;16458425;15299075;16234815 16439095;15815621;10600548;21658281;10903839;10987305;19288010;19240061;19040536;18799374;18070176;18059030;17942404;17903298;17352030;16619216;16303743;15824739;15489334;15340161;15068392;14702039;12975309;12729735;12477932;12460892;12384516;11668495;11120884;8125298;20379614;20975101;21393249;21559523;22238370;22318606;22814847 23671 Q9P2Y9 AB004064;AB017269;ABBA01062402;ABBA01062403;ABBA01062404;ABBA01062405;AC092644;AC098617;AF179274;AF242221;AF242222;AF264150;AK054646;AK074507;AK074632;AK222691;AK315376;AL157430;AMYH01011355;AMYH01011356;AMYH01011357;AY358907;BC008973;CH471058;CQ840932;CR457390;DQ133599;FB353542;NM_016192 AAD55776;AAF91397;AAG49451;AAG49452;AAH08973;AAQ89266;AAX88893;AAY14874;AAZ43216;BAA87897;BAA90820;BAC11030;BAD96411;BAG37769;BAG51979;CAB75654;CAG33671;CAH05705;CAR82354;EAX10831;EAX10832;NP_057276;Q9UIK5 Hs.144513 1335911;1701134;1764849;1792334;1794558;2155997;7185503 A006V48;D2S280;PMC14579P1;PMC31832P1;RH104195;SHGC-148409 CT120.2;HPP1;TENB2;TPEF;TR OTTHUMP00000163598;OTTHUMP00000163599;TR-2;cancer/testis antigen family 120, member 2;hyperplastic polyposis protein 1;tomoregulin;tomoregulin-2;transmembrane protein TENB2 protein-coding 11867 05760 605734 PROVISIONAL 1604962 TMEM102 transmembrane protein 102 17 17 17 p13.1 7364650 7366886 + 7279486 7281722 + 7338762 7340998 + 6480464 17828305;15489334;15324660;14702039;12477932;21906983 284114 Q8N9M5 ABBA01054866;AC113189;AK094197;AMYH01008082;BC046189;CH471108;NM_178518 AAH46189;BAC04306;EAW90189;EAW90190;NP_848613;Q8N9M5 Hs.655662 2132728 RH18511 CBAP;FLJ36878 OTTHUMP00000163818;OTTHUMP00000163819;common beta-chain associated protein;transmembrane protein 102 protein-coding ENSG00000181284 26722 08215 613936 PROVISIONAL 1603282 TMEM106A transmembrane protein 106A 17 17 17 q21.31 38020751 38028446 + 38719420 38727115 + 41363894 41371589 + 6480464 15489334;14702039;12477932;17207965;21989022 113277 B7Z698;B7Z779;K7ERE2;Q96A25 ABBA01006388;AC087365;AC109326;AK056132;AK290387;AK299974;AK301571;AMYH01008402;AX083394;BC012139;BC146974;BC146976;BC147023;BC157892;CH471152;NM_145041 AAH12139;AAI46975;AAI46977;AAI47024;AAI57893;ADQ31658;BAB71101;BAF83076;BAH13184;BAH13515;CAC33297;EAW60954;EAW60955;NP_659478;Q96A25 Hs.536474 1672066;1734528;1744257;1771649;2151578;5022200;5022578;5022651;5093146 A009H26;D11S2921;D17S1461E;D17S1970;D1S1423;G32547;GDB:439146;L18426;WI-21206 FLJ50420;FLJ50717;FLJ77644;MGC182077;MGC182126;MGC20235 transmembrane protein 106A protein-coding ENSG00000184988 28288 11315 PROVISIONAL 1606542 TMEM104 transmembrane protein 104 17 17 17 q25.1 69365802 69429102 + 70284217 70347517 + 72772622 72835922 + 6480464 17081983;15489334;14702039;12477932;19615732;21890473;21906983;22505724 54868 B4DKL7;J3QQK2;Q8NE00 ABBA01028827;AC016888;AC068874;AK000262;AK074029;AK291159;AK296621;AL137521;AMYH01008626;BC011552;BC037278;CH471099;CN479614;DN999695;NM_017728 AAH37278;BAA91039;BAB84855;BAF83848;BAG59229;CAB70787;EAW89198;EAW89199;EAW89200;EAW89201;NP_060198;Q8NE00 Hs.370262 1725493;1776027 AF007378;RH119143 FLJ00021;FLJ20255 transmembrane protein 104 protein-coding ENSG00000109066 25984 07888 VALIDATED 1601972 TMEM106C transmembrane protein 106C 12 12 12 q13.1 47154980 47160311 + 46644259 46648928 + 48357330 48362661 + 6480464 16344560;15489334;15342556;15146197;12477932;17207965;21139048 79022 C9JUY7;F8VVN7;F8VWX5;F8VZW0;F8W001;F8W098;F8W120;H0YHU2;H0YIA4;Q9BVX2 ABBA01031473;AC004801;AK299154;AK310035;AK313698;AMYH01004428;BC000854;BC107792;BP228371;BQ227924;CH471111;CN256547;CX763149;DA567999;DA571733;DQ020163;NM_001143841;NM_001143842;NM_001143843;NM_024056 AAH00854;AAI07793;AAY84826;ADQ32675;BAG36445;BAH12960;EAW57965;NP_001137313;NP_001137314;NP_001137315;NP_076961;Q9BVX2 Hs.596726 1669786;1688190;2135992;2135994;5492098 A006B31;D12S2122;G20681;MARC_39677-39678:1078242929:5;RH91118 MGC111210;MGC5576 OTTHUMP00000242399;OTTHUMP00000242401;OTTHUMP00000242403;OTTHUMP00000242404;OTTHUMP00000242405;OTTHUMP00000242406;endoplasmic reticulum membrane protein overexpressed in cancer;transmembrane protein 106C protein-coding ENSG00000134291 28775 14690 VALIDATED 1603394 TMEM106B transmembrane protein 106B 7 7 7 p21.3 12228868 12254926 + 12217451 12243411 + 12250848 12276890 + 6480464 22895706;17081983;16344560;15489334;14702039;12853948;12690205;12477932;9847074;8125298;20154673;17207965;20383883;21354975;21987572;21104415;21220649;23136129;22511793;21139048;21890473;21906983;22855871;22889924;22505724;21963094;22952603;23000965;23006423 54664 C9J998;C9JZ87;F2Z3N7;Q9NUM4 AACC02000009;ABBA01056568;AC007321;AK001834;AK002135;AK090805;AK223263;AK311651;AMYH01017074;BC028108;BC033901;BC039741;CH236948;CH471073;DA452299;NM_001134232;NM_018374 AAH28108;AAH33901;AAH39741;AAQ96840;ADQ31827;BAA92099;BAD96983;EAL24296;EAW93638;EAW93639;EAW93640;EAW93641;EAW93642;NP_001127704;NP_060844;Q9NUM4 Hs.396358 1643916;1682357;1683900;1695338;1752191;2123041;2140809;2172498;2180265 GDB:1318094;RH45871;RH48003;RH77854;RH93650;SHGC-106068;SHGC-31421;SHGC-64764;STS-N51331 FLJ11273;MGC33727 OTTHUMP00000155197;OTTHUMP00000201450;transmembrane protein 106B protein-coding ENSG00000106460 22407 07745 613413 VALIDATED 1603948 TMEM107 transmembrane protein 107 17 17 17 p13.1 8104549 8107967 - 8017021 8020439 - 8076296 8079714 - 6480464 15489334;14702039;12975309;12477932;19727342;17207965;23142642 84314 B2RDT5;B3KNL7;E9PIH0;Q6UX40 ABBA01054901;AC129492;AF311338;AK027813;AK315666;AMYH01008088;AY358525;BC006292;BC070231;BC119730;BC119731;BC127649;BC127650;BM920977;BU852346;CH471108;NM_032354;NM_183065 AAH70231;AAI27650;AAK38512;AAQ88889;ADQ32046;BAG38032;BAG51379;EAW90083;EAW90084;EAW90085;NP_115730;NP_898888;Q6UX40 Hs.513933 2115345;5015619 D11S3114;D17S2157 GRVS638;MGC10744;PRO1268 OTTHUMP00000232429;OTTHUMP00000232430;OTTHUMP00000232431;transmembrane protein 107 protein-coding 28128 14400 VALIDATED 1604309 TMEM108 transmembrane protein 108 3 3 3 q21 131182649 131543167 + 134239943 134597748 + 132757171 133116619 + 6480464 18519826;15489334;14702039;12975309;12477932;11230166;11214970;8889548;20379614;21102462;21900206;22036096 66000 B3KT64;D6R911;D6R9I6;D6RFH6;D6RGJ9;D6RIE1;E9PB58;Q6UXF1 AB051477;ABBA01059172;ABBA01059173;ABBA01059174;ABBA01059175;AC018472;AC055753;AC079942;AC092984;AK095050;AL136578;AMYH01013509;AY358381;BC000568;BI489935;BM667108;CH471052;DB522014;NM_001136469;NM_023943 AAH00568;AAQ88747;BAB21781;BAG52976;CAB66513;EAW79182;EAW79183;EAW79184;NP_001129941;NP_076432;Q6UXF1 Hs.191616 1335773;1340323;1646007;1652849;1676007;1707892;1712555;1727193;1730916;1735348;1740243;1758841;1765791;1767027;1791420;2142212;2168982;2176392;2186396;5015961;5037552;7185064;7186707 D15S1477;D3S1273;D3S1290;D3S1349;D3S1622;D3S2966E;D3S3074;D8S2279;G30981;G62850;PMC109660P1;R74726;RH68736;RH80483;SHGC-149219;SHGC-151047;SHGC-152674;SHGC-77359;SHGC-82194;WI-15706;WI-21756 CT124;MGC3040 OTTHUMP00000216227;OTTHUMP00000216228;OTTHUMP00000216229;cancer/testis antigen 124;transmembrane protein 108 protein-coding ENSG00000144868 28451 11329 VALIDATED 1601968 TMEM109 transmembrane protein 109 11 11 11 q12.2 58042259 58051802 + 60438253 60447491 + 60681371 60690915 + 6480464 18029348;15489334;12477932;9110174;8619474;20060811;20360068;21139048;21890473;21906983;21963094;23542032;22505724 79073 F5H679;Q9BVC6 ABBA01021517;AF131803;AK303961;AK313913;AMYH01003668;AP003721;AX775849;AX775851;BC001309;BI463800;CH471076;NM_024092 AAH01309;BAG36636;BAG64885;CAE11624;CAE11625;EAW73906;NP_076997;Q9BVC6 Hs.13662 1644116;1666415;1716147;1775926;1847996;2117350 D11S2248E;D11S2290E;G30169;RH11560;RH121096;WI-12296 MGC5508 OTTHUMP00000236897;OTTHUMP00000236899;mg23;mitsugumin-23;transmembrane protein 109 protein-coding ENSG00000110108 28771 14687 VALIDATED 5013865 TMEM110-MUSTN1 TMEM110-MUSTN1 readthrough This locus represents naturally occurring read-through transcription between the neighboring TMEM110 (transmembrane protein 110) and MUSTN1 (musculoskeletal, embryonic nuclear protein 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 3 52867131 52931597 - 12477932;20967262;22610502 100526772 A8MSY1;H0Y8V1 ABBA01024497;ABBA01024498;AC099667;AL833659;AMYH01013188;BC108689;NM_001198974 NP_001185903 Hs.556077 1686562;1784854;2148851;2158820;2159795 D3S3371;RH80385;SHGC-156028;STS-H99616;WI-12546 DKFZp667E1121 OTTHUMP00000218922;TMEM110-MUSTN1 fusion protein;TMEM110-MUSTN1 read-through transcript APPROVED protein-coding ENSG00000248592 38834 VALIDATED 1320357 TMEM11 transmembrane protein 11 17 17 17 p11.2 21424589 21441205 + 21041855 21058297 - 21101263 21117908 - 6480464 21274005;2110658;16189514;15489334;12477932;16169070;20877624;21139048;21890473;21906983;22190034 8834 P17152 ABBA01050460;AC087294;AC087393;AK311965;AMYH01008268;BC002819;BC005268;BC020815;BC035874;BT006768;CH471210;DC364753;NM_003876;NR_024547;X51804 AAH02819;AAH05268;AAH20815;AAP35414;BAG34905;CAA36102;EAX02598;EAX02599;NP_003867;P17152 Hs.592945 1686728;1686971;2187558 RH64843;RH80891;STS-X51804 C17orf35;PM1;PMI putative receptor protein;transmembrane protein 11;transmembrane protein 11, mitochondrial protein-coding 16823 12680 VALIDATED 1602041 TMEM110 transmembrane protein 110 3 3 3 p21.1 52852699 52910364 - 52848938 52906587 - 52870772 52931597 - 6480464 14702039;16344560;22610502;15489334;12477932;21926972 375346 F8WDI5;H7C503;H7C551;Q86TL2 ABBA01024497;ABBA01024498;AC099667;AK094932;AK124386;AMYH01013188;AY726591;BC022209;BC047015;BM802543;BX360795;BX648562;CH471055;DA619807;DA730528;DB362400;NM_198563 AAH47015;EAW65266;NP_940965;Q86TL2 Hs.744189 1686562;1752399;2120696;2123929;2148851;2159795 RH80385;SHGC-106308;SHGC-57800;STS-H99616;STS-T49461;WI-12546 DKFZp667E1121;DKFZp779M0254;FLJ37613;FLJ42395;MGC52022 OTTHUMP00000213875;OTTHUMP00000218922;transmembrane protein 110 protein-coding ENSG00000213533 30526 14675 VALIDATED 2292465 TMEM114 transmembrane protein 114 16 16 p13.2 8559501 8562305 - 8619502 8622226 - 6480464 17492639;15489334;12477932;11181995;21689651 283953 B3SHH9;H3BM71 ABBA01026864;AC074052;AC137777;AI887966;AMYH01007136;AW135815;BC150511;CH891104;EF424218;NM_001146336 ABN55916;B3SHH9;EAW50652;NP_001139808 Hs.150849 transmembrane protein 114 protein-coding ENSG00000232258 33227 611579 VALIDATED 1605401 TMEM115 transmembrane protein 115 3 3 3 p21.3 50365011 50369770 - 50367184 50371943 - 50392180 50396939 - 6480464 17973242;16641997;15489334;12477932;11085536;9856955;21890473 11070 Q12893 ABBA01024549;AC002481;AK314166;AMYH01013171;BC011948;BC017367;BF305563;CH471055;CR457020;NM_007024;U09584;Z84492 AAA92281;AAB67308;AAH11948;AAH17367;ABM83032;ABM86226;BAG36850;CAG33301;EAW65115;EAW65116;EAW65117;NP_008955;Q12893 Hs.91566 1670176;1793468;2108869 PL6_9215;PMC22669P15;WI-17327 PL6 OTTHUMP00000041145;PP6;placental protein 6;transmembrane protein 115 protein-coding ENSG00000126062 30055 06144 607069 VALIDATED 1605325 TMEM120A transmembrane protein 120A 7 7 7 q11.23 70484699 70492531 - 75454243 75461889 - 75616155 75623992 - 6480464 12477932;16169070;10737800;22990118 83862 Q9BXJ8 ABBA01005897;ABBA01005898;AC006330;AF327923;AMYH01017558;AMYH01017559;BC029487;BC040694;BC051850;CH471220;CX869634;DB460719;NM_031925 AAH29487;AAH51850;AAK16442;ABM81928;ABM85106;EAW71781;EAW71782;EAW71783;EAW71784;EAW71785;EAW71786;EAW71787;EAW71788;NP_114131;Q9BXJ8 Hs.488835 1651099;1655895;1725639;1740191;2124038;2189471 D9S1774;G62098;MARC_6945-6946:992007577:2;RH11643;RH45086;WI-15388 NET29;TMPIT transmembrane protein 120A;transmembrane protein induced by tumor necrosis factor alpha protein-coding 21697 15543 VALIDATED 1626589 TMEM120B transmembrane protein 120B 12 12 12 q24.31 121789674 121856224 + 120635163 120698088 + 122150658 122219974 + 6480464 19240061;12477932;20379614 144404 A0PK00;F5H465;H0YG77 ABBA01020182;ABBA01020183;AC084018;AK126568;AMYH01004815;AMYH01004816;BC035884;BC069021;BC127768;BC127769;BX648084;NM_001080825 A0PK00;AAI27769;AAI27770;BAG54345;NP_001074294 Hs.644504 1661033;1757731;1782656;2124671;5015861;5015961;5020948;5022200;5022578;5022651;5037552;5117897;7185938 A004O17;D10S16;D11S2921;D15S1477;D1S1423;D8S2279;G35510;GDB:631813;L18426;SHGC-146397;SHGC-149612;SHGC-33451 OTTHUMP00000240043;OTTHUMP00000240044;OTTHUMP00000240045;transmembrane protein 120B protein-coding ENSG00000188735 32008 VALIDATED 1603287 TMEM116 transmembrane protein 116 12 12 12 q24.13 111994553 112076493 - 110853486 110935318 - 112369086 112451023 - 6480464 15489334;14702039;12477932;17207965 89894 F8VNZ8;F8VP39;F8VQZ8;F8VRN7;F8VWU6;F8W1L7;G3V1Z3;Q8NCL8;Q9BWF8 ABBA01019917;AC004024;AC073575;AK074648;AL833501;AMYH01004752;AMYH01004753;AMYH01004754;BC000282;BC022360;BC048796;BC070135;BF435254;BI828772;CH471054;CQ783530;NM_001193453;NM_001193531;NM_138341 AAH00282;AAH22360;AAH48796;AAH70135;ADQ32041;BAC11112;CAF86706;EAW97982;EAW97983;EAW97984;EAW97985;EAW97986;EAW97987;EAW97988;EAW97989;NP_001180382;NP_001180460;NP_612350;Q8NCL8 Hs.506815 2145870;2145872;2162181;5015961;5016478;5022463;5037552;5109281 A002B25;A008B05;D15S1477;D1S1425;D3S1673;D8S2279;G19891;GDB:434012 FLJ90167 OTTHUMP00000241672;OTTHUMP00000241674;OTTHUMP00000241676;transmembrane protein 116 protein-coding ENSG00000198270 25084 11275 VALIDATED 1604277 TMEM117 transmembrane protein 117 12 12 12 q12 43033310 43586834 + 42516229 43069808 + 44229962 44783541 + 6480464 11256614;16381901;15489336;15489334;14702039;12477932;11230166;11076863;20379614;19913121;20628086 84216 F5H3Q2;F8VS00;F8W1J2;H0YI63;Q9H0C3 ABBA01031426;ABBA01031427;AC024934;AC025030;AC025253;AC073653;AC076972;AC093012;AK057287;AK097511;AL136855;AMYH01004415;AMYH01004416;AMYH01004417;AMYH01004418;AMYH01004419;AMYH01004420;BC016819;BC030284;BC042192;BC060798;CH471111;NM_032256 AAH30284;AAH60798;BAB71411;BAG53479;CAB66789;CAL38624;EAW57871;EAW57872;NP_115632;Q9H0C3 Hs.444668 1339500;1341346;1690542;1695396;1706280;1712995;1714485;1715009;1725303;1739535;1769607;2110113;2113002;2116404 CH12SSR1;D12S1473;D12S1663;D12S1687;D12S2160;RH118969;RH119754;RH120588;RH120841;RH92937;SHGC-35739;SHGC-68506;SHGC-80694;STS-N21193 DKFZp434K2435 OTTHUMP00000241055;OTTHUMP00000241056;transmembrane protein 117 protein-coding ENSG00000139173 25308 13193 PROVISIONAL 1602276 TMEM119 transmembrane protein 119 12 12 12 q23.3 108653016 108661288 - 107507756 107515913 - 108983622 108991894 - 6480464 16303743;15489334;14702039;12975309;12477932 338773 F8VS22;F8VZL0;F8W0W9;Q4V9L6 ABBA01053131;AC008119;AK075501;AK097290;AK295288;AK301202;AL521683;AMYH01004732;AY358389;BC096825;BX333871;CH471054;CS051333;DC349145;ES311302;NM_181724 AAH96825;AAQ88755;BAC11656;BAG58272;BAG62779;CAI72161;EAW97823;NP_859075;Q4V9L6 Hs.449718 1689306 RH92385 OTTHUMP00000241010;transmembrane protein 119 protein-coding ENSG00000183160 27884 11260 VALIDATED 1606775 TMEM121 transmembrane protein 121 14 14 14 q32.33 86047836 86049422 + 105063998 105067584 + 105992953 105996539 + 6480464 15489334;12477932;12204283;20714865 80757 Q9BTD3 ABBA01008883;AL928654;AMYH01006084;BC004221;NM_025268 AAH04221;NP_079544;Q9BTD3 Hs.157527 MGC4659;hole OTTHUMP00000028468;hole;transmembrane protein 121 protein-coding ENSG00000184986 20511 14652 PROVISIONAL 1605596 TMEM123 transmembrane protein 123 This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008] 11 11 11 q22.1 99428614 99485334 - 101772266 101828985 - 102267056 102323775 - 6480464 8125298;9600958;11481458;16344560;16303743;15489334;15340161;12975309;12752121;12477932;11893509;16189514;19322201 114908 E9PJW0;E9PKT4;E9PSB1;Q8N131 ABBA01039933;ABBA01039934;AJ293406;AK026572;AK075420;AK225790;AL050161;AL110202;AL137643;AMYH01003992;AP000942;AP001830;AY008283;AY157580;AY358696;BC032296;CH471065;CS051231;DB146474;NM_052932 AAG21694;AAH32296;AAO13164;AAQ89059;ABM82580;ABM85768;BAC11610;CAI72111;EAW67019;EAW67020;EAW67021;NP_443164;Q8N131 Hs.503709 1647642;1666717;1672228;1675269;1739595;2119232;2133383;2184739;5106765 D11S4047E;D11S4712;RH45899;RH66146;RH67911;RH78251;STS-N39521;WI-19267;WI-21659 KCT3;PORIMIN;PORMIN KCT-3;OTTHUMP00000235711;OTTHUMP00000235712;keratinocytes associated transmembrane protein 3;keratinocytes-associated transmembrane protein 3;porimin;pro oncosis receptor inducing membrane injury;pro-oncosis receptor inducing membrane injury;serine/threonine-rich receptor APPROVED protein-coding ENSG00000152558 30138 606356 REVIEWED 1604757 TMEM125 transmembrane protein 125 1 1 1 p34.2 42017771 42021779 + 43508994 43512260 + 43735665 43739673 + 6480464 15489334;12477932;8889548 128218 E5RHB0;Q96AQ2 ABBA01050961;AC093420;AMYH01000557;BC016858;BC072393;BI768096;BI821566;BM677938;CH471059;NM_144626 AAH16858;EAX07110;EAX07111;NP_653227;Q96AQ2 Hs.104476 MGC17299 OTTHUMP00000224937;OTTHUMP00000224938;transmembrane protein 125 protein-coding ENSG00000179178 28275 14457 VALIDATED 1604272 TMEM126A transmembrane protein 126A The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 11 11 11 q14.1 82668277 82676912 + 85036693 85045235 + 85358963 85367597 + 6480464;7240710 11256614;19327736;16381901;15489336;15489334;12477932;11230166;11076863;19570815;20405026;20877624;23500070;22939629;21890473;22797925;22815638 84233 E9PI90;E9PIH8;Q9H061 ABBA01017336;AK312081;AL136941;AMYH01003846;AMYH01003847;AP000642;BC007875;BQ943238;CD366181;CH471076;DB454483;NG_017157;NM_001244735;NM_032273 AAH07875;BAG35017;CAB66875;CAL37734;EAW75102;NP_001231664;NP_115649;Q9H061 Hs.533725 1658780;2130530 RH45683;RH48531 DKFZp586C1924;OPA7 OTTHUMP00000234600;OTTHUMP00000234602;OTTHUMP00000234603;transmembrane protein 126A APPROVED protein-coding ENSG00000171202 25382 13216 612988;612989 REVIEWED 1603632 TMEM126B transmembrane protein 126B 11 11 11 q14.1 82648936 82656897 + 85017310 85025186 + 85339617 85347583 + 6480464 15489334;12477932;10931946;17903296;19570815;21832049;22939629;15342556;16341674;21890473;22982022 55863 B4DP48;E9PJQ6;E9PKZ7;E9PKZ9;H0YD74;H0YEG5;Q8IUX1 ABBA01017336;AC023118;AF220193;AF246240;AK291150;AK298189;AMYH01003846;AP000446;AP000639;AP000642;AP000773;AP000852;AP000857;AP001791;AP001825;AP001984;AP002370;AP002751;AP002797;AP002803;AP002878;AP003026;AP003035;AP003093;AP003095;AP003305;AV728059;BC012065;BC017574;BC038933;BC107900;BE781669;BF244908;BG170232;BG623309;BG776073;BM746060;BP264186;CH471076;CS072471;DB530931;NM_001193537;NM_001193538;NM_001256546;NM_001256547;NM_018480 AAF67658;AAG44487;AAH12065;AAH17574;AAH38933;AAI07901;ABM83211;ABM86411;BAF83839;BAG60460;CAI93609;EAW75096;EAW75097;EAW75098;EAW75099;EAW75100;EAW75101;NP_001180466;NP_001180467;NP_001243475;NP_001243476;NP_060950;Q8IUX1 Hs.525063 1666602;1686935;1707260;5111899 A008Z32;G42651;RH94372;SHGC-79231 HT007;MGC111203 OTTHUMP00000234589;OTTHUMP00000234594;OTTHUMP00000234598;transmembrane protein 126B protein-coding ENSG00000171204 30883 13715 VALIDATED 1606992 TMEM129 transmembrane protein 129 4 4 4 p16.3 1628728 1634133 - 1687477 1692882 - 1717679 1723084 - 6480464 12477932;20972438;20348956;20379614;21906983 92305 A0AVI4;H7C4G7;H7C4I8 ABBA01029532;AC016773;AK098466;AK303880;AMYH01013866;AMYH01013867;BC009331;BC018921;BC126370;CH471131;NM_001127266;NM_138385 A0AVI4;AAI26371;ADR83363;BAG64816;EAW82569;EAW82570;EAW82571;EAW82572;EAW82573;NP_001120738;NP_612394 Hs.518562 1671991;2163140 D4S2561E;G29340 D4S2561E;FLJ25600 OTTHUMP00000149961;OTTHUMP00000212816;transmembrane protein 129 protein-coding ENSG00000168936 25137 14290 VALIDATED 1602670 TMEM128 transmembrane protein 128 4 4 4 p16.3 4134889 4147554 - 4288170 4300835 - 4237269 4249934 - 6480464 15489334;14702039;12477932;23142642 85013 B7Z3K1;D3DVS1;Q5BJH2 ABBA01008244;AC011744;AK001453;AK295248;AMYH01013900;BC007729;BC091482;CH471131;CR933611;NM_032927 AAH07729;AAH91482;BAG58239;CAI45928;EAW82440;EAW82441;EAW82442;EAW82443;EAW82444;NP_116316;Q5BJH2 Hs.12845 2177280 G30035 MGC110944;MGC13159 OTTHUMP00000155125;OTTHUMP00000155126;transmembrane protein 128 protein-coding ENSG00000132406 28201 17483 PROVISIONAL 1601730 TMEM132C transmembrane protein 132C 12 12 12 q24.32 128364584 128805155 + 127556582 127758413 + 128751948 129192460 + 6480464 20379614;21423239;19389623;23456168 92293 E9PC33;F5H439;Q8N3T6 ABBA01019761;ABBA01019762;ABBA01019763;ABBA01019764;ABBA01019765;ABBA01019766;ABBA01060291;AC023595;AC061709;AC090424;AC107020;AC126612;AK126715;AL122107;AL831921;AL832160;AMYH01004869;NM_001136103 BAG54364;CAD38581;CAH10715;NP_001129575;Q8N3T6 Hs.49599 1336703;1339192;1691152;1746541;1757767;1757803;1762615;1779332;1782704;1784090 D12S1609;D12S1679;G64699;RH99106;SHGC-146423;SHGC-146477;SHGC-146555;SHGC-152883;SHGC-153334;SHGC-155276 DKFZp761O2018 OTTHUMP00000224678;transmembrane protein 132C protein-coding ENSG00000181234 25436 PROVISIONAL 1601991 TMEM127 transmembrane protein 127 This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010] 2 2 2 q11.2 91357500 91372939 - 96280039 96295459 - 96915946 96931751 - 6480464;7240710 15815621;15489334;14702039;12477932;10493829;19322201;16344560;20154675;16751776;21156949;20923864;21447639;21613359;21139048;20301715;23000965;22541004 55654 C9J4H2;O75204 ABBA01036593;AC004020;AC012307;AC021188;AK000514;AK025910;AK293276;AL117494;AL117581;AMYH01010722;BC028575;BC039892;CH471207;DA212468;NG_027695;NM_001193304;NM_017849 AAC23494;AAH28575;AAH39892;AAY24224;BAA91220;BAB15279;BAG56805;EAW71376;EAW71377;EAW71378;EAW71379;NP_001180233;NP_060319;O75204 Hs.164303;Hs.735706 1855281;2129473;2129475;2158786;2166584;2189377;5037552 D2S1663E;D2S2931;D8S2279;MARC_3297-3298:991936980:1;RH11591;RH68603;SHGC-30679 FLJ20507;FLJ22257 OTTHUMP00000161011;OTTHUMP00000207421;transmembrane protein 127 APPROVED protein-coding ENSG00000135956 26038 07917 171300;613403 REVIEWED 1606821 TMEM131 transmembrane protein 131 2 2 2 q11.2 92576761 92816261 - 97739231 97978786 - 98372799 98612354 - 6480464 17081983;16964243;16344560;12477932;10996388;9039502;20379614;21906983 23505 B4DMG2;C9J6W0;H7BZ05;H7BZV0;Q92545 ABBA01073972;ABBA01073973;ABBA01073974;ABBA01073975;AC016699;AC079337;AC092591;AK025852;AK098792;AK297450;AMYH01010795;AMYH01010796;AMYH01010797;AU132630;BC018018;BC036841;BE327511;BX647728;D87446;NM_015348 AAH36841;AAX82007;BAA13387;BAG59874;NP_056163;Q92545 Hs.469376 1661403;1668398;1679021;1707752;1712326;1724447;1748769;2118463;2119984;2173382 D1S3018;D2S1674E;G16369;G54072;RH122386;RH98300;SHGC-110396;SHGC-82094;STS-H71487;WI-13832 CC28;KIAA0257;PRO1048;RW1;YR-23 2610524E03Rik;OTTHUMP00000203014;OTTHUMP00000203015;transmembrane protein 131 protein-coding ENSG00000075568 30366 VALIDATED 1605559 TMEM130 transmembrane protein 130 7 7 7 q22.1 93173010 93196552 - 98282047 98305579 - 98444111 98467673 - 6480464 16381901;16344560;15489336;15489334;12975309;12690205;12477932;11256614;11230166;11076863;8125298 222865 B7Z2F1;C9JQV5;G3V0E7;Q8N3G9 AACC02000085;AB072903;ABBA01045698;ABBA01045699;ABBA01045700;AC004991;AC095044;AK124634;AK225783;AK294658;AK295543;AK312364;AL832523;AL834348;AL834349;AMYH01017719;AY358583;BC030793;BC037895;CH236956;CH471091;DA144530;DA154119;NM_001134450;NM_001134451;NM_152913 AAH30793;AAH37895;AAQ88946;BAG35282;BAG54060;BAH11837;BAH12100;CAD38628;CAD39013;CAD39014;CAL37825;CAL38122;CAL38713;CAL38749;EAL23888;EAW76701;EAW76702;EAW76703;EAW76704;NP_001127922;NP_001127923;NP_690877;Q8N3G9 Hs.270753 1649212;1671734;1851721;5014051;5022651 D11S2921;D7S2631;D8S2278;GDB:314059;SHGC-32537 DKFZp761L1417;FLJ42643 OTTHUMP00000205634;OTTHUMP00000205635;OTTHUMP00000205636;OTTHUMP00000227765;transmembrane protein 130 protein-coding ENSG00000166448 25429 13226 VALIDATED 1606181 TMEM132B transmembrane protein 132B 12 12 12 q24.31 125418816 125750149 + 124377115 124709542 + 125811162 126143589 + 6480464 14702039;12477932;11572484;11347906;20379614 114795 Q14DG7 AB058689;AB067493;ABBA01060332;ABBA01060333;ABBA01060334;ABBA01060335;ABBA01060336;AC004806;AC005146;AC026370;AC073618;AC093028;AK055283;AK090767;AK091512;AK093097;AMYH01004855;BC113366;BC113368;BC131621;CH471054;CR735824;NM_052907 AAI13367;AAI13369;AAI31622;BAB47415;BAB67799;BAC04053;EAW98476;EAW98477;EAW98478;NP_443139;Q14DG7 Hs.524838 1331596;1335646;1337776;1339412;1722737;1752645;1757171;2122185;2151976;2172632;2181817;5037552;7186752 A007A34;B332ZC1;D12S1614;D12S304;D12S340;D12S342;D8S2279;G17647;G60306;SGC31838;SHGC-106466;SHGC-144599 KIAA1786;KIAA1906 OTTHUMP00000238921;transmembrane protein 132B protein-coding 29397 17230 PROVISIONAL 1603364 TMEM132E transmembrane protein 132E 17 17 17 q12 29817991 29876565 + 29931881 29990450 + 32907768 32966337 + 6480464 14569139;12477932 124842 Q6IEE7 ABBA01011216;AC005691;AMYH01008352;BC018318;BC020591;BN000149;NM_207313 AAH18318;AAH20591;CAD80169;NP_997196;Q6IEE7 Hs.310482 1335326;1340503;1340731;1729470;1751005 D17S1158;D17S1842;D17S1872;D17S514;SHGC-104930 OTTHUMP00000163847;transmembrane protein 132E protein-coding ENSG00000181291 26991 14030 PROVISIONAL 1606273 TMEM132A transmembrane protein 132A This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 11 11 11 q12.2 58052800 58065518 + 60448489 60461207 + 60691913 60704631 + 6480464 16806201;14702039;12514190;12477932;12421765;11524435;10997877;21139048;21906983;23314748 54972 F5H765;H0YFB3;H0YFQ1;H0YFQ2;Q24JP5 AB046803;ABBA01021517;AK000546;AK023577;AL359557;AL834133;AMYH01003668;AP003721;BC028106;BC032059;BC114569;CH471076;NM_017870;NM_178031 AAH28106;AAH32059;AAI14570;BAA91245;BAB13409;BAB14613;CAH10668;EAW73908;EAW73909;EAW73910;EAW73911;EAW73912;EAW73913;EAW73914;NP_060340;NP_821174;Q24JP5 Hs.118552 1644116;1666503;1754431;1775926;1853099;1853101;2107217 D11S2290E;HSPA5BP1__7508;RH47594;SHGC-132491;SHGC-33247;SHGC-36506;WI-12296 DKFZp547E212;FLJ20539;GBP;HSPA5BP1;MGC138669 GRP78-binding protein;HSPA5-binding protein 1;OTTHUMP00000236901;OTTHUMP00000236902;glucose-regulated protein, 78kDa;heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1;heat shock 70kDa protein 5 binding protein 1;transmembrane protein 132A APPROVED protein-coding ENSG00000006118 31092 11034 REVIEWED 1606177 TMEM132D transmembrane protein 132D 12 12 12 q24.33 129169510 129999521 - 128122224 128954166 - 129556271 130388212 - 6480464 12966072;19240061;14702039;12477932;11853319;20379614;19913121;20628086;22948381;20368705;21784300;19389623;21890473;23534349;22911938;23251661;23382691 121256 Q14C87 AB061814;AB075824;ABBA01019778;ABBA01019779;ABBA01019780;ABBA01019781;ABBA01019782;ABBA01019783;ABBA01019784;ABBA01019785;ABBA01019786;ABBA01019787;ABBA01019788;ABBA01019789;ABBA01019790;ABBA01019791;ABBA01019792;ABBA01019793;ABBA01019794;ABBA01019795;ABBA01019796;ABBA01019797;ABBA01019798;AC055717;AC079456;AC107033;AC117373;AC117501;AC125635;AC128708;AC130404;AC139767;AK094656;AL833234;AMYH01004870;AMYH01004871;AMYH01004872;AMYH01004873;BC114626;BC114936;CH471054;NM_133448 AAI14627;AAI14937;BAB85530;BAC97794;CAD38636;EAW98500;NP_597705;Q14C87 Hs.507268 1335634;1336089;1337800;1704802;1707012;1707482;1713483;1720615;1722807;1736310;1746207;1746753;1752187;1754787;1757405;1760781;1767591;1779736;1782694;2148611;2163884;2184212;7186702 D12S1248E;D12S1714;D12S1851;D12S367;D12S60;G17643;G41788;G59117;G60345;G64717;G64751;RH120225;SGC33653;SHGC-106049;SHGC-140997;SHGC-144296;SHGC-144798;SHGC-153706;SHGC-155073;SHGC-79868;SHGC-81009;SHGC-84536 KIAA1944;MGC138770;MGC138771;MOLT OTTHUMP00000238713;mature OL transmembrane protein;mature oligodendrocytes transmembrane protein;transmembrane protein 132D protein-coding ENSG00000151952 29411 13906 611257 VALIDATED 1602316 TMEM133 transmembrane protein 133 There is evidence that this intronless gene is transcribed but the protein is predicted. The gene function is unknown. [provided by RefSeq, Jul 2008] 11 11 11 q22.1 98032150 98034010 + 100368021 100369876 + 100862811 100864666 + 6480464 15489334;12477932;21909110;21909115 83935 Q9H2Q1 ABBA01039961;AF247167;AK314174;AMYH01003987;AP000872;BC058024;BC093843;BC112050;CH471065;NM_032021 AAG44547;AAH93843;AAI12051;BAG36857;EAW66996;NP_114410;Q9H2Q1 Hs.44004 1653321;1698756;2220584 RH102941;STS-N27860;UniSTS:485632 AD031;MGC138255 OTTHUMP00000236203;transmembrane protein 133 APPROVED protein-coding ENSG00000170647 24033 12425 VALIDATED 1604784 TMEM134 transmembrane protein 134 11 11 11 q13.2 64565025 64569937 - 66988395 66993307 - 67231819 67236731 - 6480464 12477932;9110174;8619474;21103663;23142642;22855487;19322201;15146197 80194 B4DLG6;B4E0E3;F5H1I9;G3V1M5;Q9H6X4 AA830850;ABBA01024032;AK025402;AK296988;AK303342;AK310743;AMYH01003747;AP003419;AW249982;AY007143;BC013883;BC051854;BC125134;BG488634;BG719036;BM920758;BX400047;CH471076;CN336445;DN999439;HY053672;HY059123;NM_001078650;NM_001078651;NM_025124;NR_073409;NR_073410;NR_073411;NR_073412;NR_073413 AAH13883;AAI25135;BAB15126;BAG59528;BAG64405;EAW74631;EAW74632;EAW74633;EAW74634;EAW74635;EAW74636;NP_001072118;NP_001072119;NP_079400;Q9H6X4 Hs.288761 2186207;2191607;5022578 D1S1423;MARC_27482-27483:1034360590:3;RH78667 FLJ21749;MGC149891 OTTHUMP00000237648;OTTHUMP00000238411;transmembrane protein 134 protein-coding ENSG00000172663 26142 08642 VALIDATED 1602298 TMEM139 transmembrane protein 139 7 7 7 q34 137818928 137822006 + 142692185 142695263 + 142982040 142985141 + 6480464 16344560;16712791;17213182;16303743;15231748;12975309;12690205;12477932;19773279 135932 Q8IV31 AACC02000107;ABBA01034134;AC073342;AK075067;AK172816;AK315170;AMYH01018007;AY358781;BC016719;BC035517;BC035888;BC048333;BE018738;CB142336;CH236959;CH471198;DA626625;DA839855;DT220400;NG_029248;NM_001242773;NM_001242774;NM_001242775;NM_001242776;NM_001242777;NM_153345;NR_040003 AAH16719;AAH35517;AAQ89141;BAC11382;BAD18786;BAG37612;EAL23784;EAW51871;EAW51872;EAW51873;EAW51874;EAW51875;NP_001229702;NP_001229703;NP_001229704;NP_001229705;NP_001229706;NP_699176;Q8IV31 Hs.17558;Hs.731832 1697432;1767210;2174901;2186044 A004G42;GDB:4585585;RH102216;RH12751 FLJ90586 OTTHUMP00000202122;OTTHUMP00000202123;OTTHUMP00000202124;OTTHUMP00000202125;transmembrane protein 139 protein-coding ENSG00000178826 22058 08298 VALIDATED 1604817 TMEM138 transmembrane protein 138 This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] 11 11 11 q12.2 58464854 58472359 + 60886432 60893254 + 61129473 61136977 + 6480464 14702039;12477932;11042152;22282472;20301500 51524 J3QSZ6;Q9NPI0 ABBA01003199;AF151030;AF151032;AI097052;AI768672;AK027724;AK303219;AK307371;AL832879;AMYH01003677;AP003108;BC005201;BI907037;CB956757;CH471076;FB746706;NG_032581;NM_016464;NR_028473 AAF36116;AAF36118;AAH05201;ABM83437;ABM86651;BAG64306;CAI46174;CAT04673;EAW73943;NP_057548;Q9NPI0 Hs.406530 1644676;1647140;1731277;1774968;2121388;2129406;5014051;5037552 D11S678;D8S2278;D8S2279;G29127;RH65055;RH79064;STS-AA041383;STS-R78498 HSPC196;JBTS16 OTTHUMP00000238071;transmembrane protein 138 APPROVED protein-coding ENSG00000149483 26944 13713 614459;614465 REVIEWED 1603164 TMEM136 transmembrane protein 136 11 11 11 q23.3 117354721 117360805 + 119701226 119706557 + 120195838 120204388 + 6480464 12477932;16344560;14702039 219902 A8K0W5;Q6ZRR5 ABBA01039658;AK096207;AK128040;AK289680;AK294713;AK304086;AMYH01004089;AP001150;BC015232;CH471065;DA097438;DA331965;NM_001198670;NM_001198671;NM_001198672;NM_001198673;NM_001198674;NM_001198675;NM_174926 AAH15232;BAC87244;BAF82369;BAG57865;BAG64992;EAW67505;EAW67506;NP_001185599;NP_001185600;NP_001185601;NP_001185602;NP_001185603;NP_001185604;NP_777586;Q6ZRR5 Hs.643516 2152569;5015619;5022641;5022651;5037552 D11S2843;D11S2921;D11S3114;D8S2279;WI-12464 MGC17839 OTTHUMP00000231990;OTTHUMP00000231991;OTTHUMP00000231992;transmembrane protein 136 protein-coding ENSG00000181264 28280 14461 VALIDATED 1603382 TMEM135 transmembrane protein 135 11 11 11 q14.2 84060241 84351174 + 86426713 86712220 + 86748886 87039876 + 6480464 12477932;9915854;8125298;16344560;20379614;21890473;21906983 65084 E9PIS2;E9PJX0;E9PQL0;F5H254;Q86UB9;Q8N605 ABBA01017311;ABBA01017312;ABBA01017313;AF080569;AK000684;AK024853;AK025757;AK225364;AK291804;AK296774;AK302473;AL834493;AMYH01003852;AMYH01003853;AMYH01003854;AP000811;AP001102;AP002967;BC012553;BC030952;BC051462;BX487598;BX648678;CH471076;DB325683;DB469024;NM_001168724;NM_022918;NR_033149 AAD16010;AAH12553;AAH30952;AAH51462;BAB15233;BAF84493;BAG59353;BAG63762;CAD39151;CAH10546;EAW75148;EAW75149;EAW75150;NP_001162195;NP_075069;Q86UB9 Hs.188591;Hs.490745 1661841;1688570;1719359;1738105;1753051;1765009;1771032;1772887;1782262;2124651;2186621 D11S3733;D11S4582;RH123407;RH68686;RH94063;SGC35030;SHGC-112022;SHGC-148560;SHGC-79093;STS-H93000;WI-11715 DKFZp686I1974;FLJ22104;PMP52 OTTHUMP00000235541;OTTHUMP00000235543;OTTHUMP00000235545;peroxisomal membrane protein 52;transmembrane protein 135 protein-coding 26167 07978 VALIDATED 1602052 TMEM145 transmembrane protein 145 19 19 19 q13.2 39618273 39630010 + 47509317 47521054 + 42817477 42829214 + 6480464 16344560;16303743;14702039 284339 M0QZK1;M0QZX2;Q8NBT3 ABBA01040846;AC024078;AK075286;AMYH01009832;CH471126;CQ783419;DA694683;NM_173633 BAC11522;CAF86623;EAW57128;EAW57129;EAW57130;NP_775904;Q8NBT3 Hs.382075 FLJ90805 transmembrane protein 145 protein-coding ENSG00000167619 26912 08300 VALIDATED 1602477 TMEM143 transmembrane protein 143 19 19 19 q13.33 45700849 45732430 - 53527428 53558998 - 48835616 48867186 - 6480464 12975309;11256614;12477932;19913121;20628086;20877624 55260 B4DMT0;B4DPF8;F5GZQ8;M0QZ02;M0R153;M0R1H7;M0R325;Q96AN5 ABBA01032999;ABBA01033000;AC008392;AC011514;AC020955;AK129801;AK291521;AK294408;AK297591;AK297610;AK298317;AK303635;AMYH01009900;AY358161;BC016919;BC040021;CH471177;NM_018273 AAH16919;AAQ88528;BAF84210;BAG57660;BAG59978;BAG59992;BAG60570;BAG64642;EAW52335;EAW52336;EAW52337;EAW52338;NP_060743;Q96AN5 Hs.351335 1697684 RH102358 FLJ10922 transmembrane protein 143 protein-coding ENSG00000161558 25603 08556 PROVISIONAL 1353543 TMEM14D transmembrane protein 14D (pseudogene) 10 10 10 q21.3 63579224 63580144 - 69974252 69974596 - 70303776 70304697 - 645203 A8MWL7 ABBA01019575;AL713888;AMYH01002802;NG_023183 A8MWL7 TMEM14DP;bA524O24.3 transmembrane protein 14D APPROVED pseudo 15660 VALIDATED 1602669 TMEM141 transmembrane protein 141 9 9 9 q34.3 110199411 110201403 + 138805598 138807590 + 139685777 139687769 + 6480464 15489334;15164053;12477932;8889548;16712791;17207965;20305087 85014 Q96I45 ABBA01022721;AL355987;AMYH01021874;BC007834;BU740670;CB107060;CH471090;NM_032928 AAH07834;ADQ32379;EAW88277;NP_116317;Q96I45 Hs.356744 1681390;1683168 RH76770;RH91466 MGC14141;RP11-216L13.7 OTTHUMP00000022604;transmembrane protein 141 protein-coding ENSG00000244187 28211 17490 VALIDATED 1605072 TMEM144 transmembrane protein 144 4 4 4 q32.1 156473824 156518860 + 159351126 159395889 + 159131401 159176439 + 6480464 14702039;12477932;17207965 55314 D6R9I0;D6R9U5;D6RAX5;D6RCA2;D6RDF9;D6RDI4;D6RDN8;D6RIX5;Q7Z5S9 ABBA01070203;AC098679;AK002017;AMYH01014642;BC026318;BC035811;BC036551;BC048117;BC050297;BC054487;BC060875;CH471056;NM_018342 AAH36551;AAH48117;AAH54487;AAH60875;ADQ32959;BAA92037;EAX04858;EAX04859;EAX04860;EAX04861;EAX04862;NP_060812;Q7Z5S9 Hs.176227 1697890;1775541;1848101;2169505 D4S445;RH102473;SHGC4-1558;STS-N34526 FLJ11155 OTTHUMP00000220509;transmembrane protein 144 protein-coding ENSG00000164124 25633 07736 VALIDATED 2301123 TMEM14E transmembrane protein 14E 3 3 3 q25.1 150475589 150476881 - 153540174 153541469 - 152057487 152058779 - 12975309;10737800 645843 Q6UXP3 ABBA01058897;AC026347;AMYH01013584;AW866456;AY358260;CH471052;NM_001123228 AAQ88627;EAW78784;NP_001116700;Q6UXP3 Hs.632562 1716077 RH121002 OTTHUMP00000216109;transmembrane protein 14-like;transmembrane protein 14E protein-coding ENSG00000221962 34386 PROVISIONAL 1313920 TMEM14C transmembrane protein 14C 6 6 6 p24.2 11951641 11959855 + 10831324 10839348 + 10723148 10731362 + 737633;1580863;6480464 12477932 15489334;12958361;11042152;8125298;20877624;19656490;22939629;21988832;22087225 51522 Q9P0S9 ABBA01022084;AF151028;AF164962;AK223462;AK309591;AK310191;AL358777;AL702149;AMYH01016079;AV737904;BC002496;BC010086;CH471087;CX784985;NM_001165258;NM_016462 AAF36114;AAH02496;AAH10086;AAQ13593;ABM83488;ABM86703;BAD97182;EAW55271;EAW55272;EAW55273;EAW55274;EAW55275;NP_001158730;NP_057546;Q9P0S9 Hs.519557 2109973;5016856;5017360 RH48992;SHGC-172;TMEM14C_9731 C6orf53;HSPC194;MSTP073;NET26;bA421M1.6 OTTHUMP00000016019;transmembrane protein 14C protein-coding ENSG00000111843 20952 15524 615318 VALIDATED 1605364 TMEM140 transmembrane protein 140 7 7 7 q33 129570241 129588443 + 134483364 134501190 + 134832766 134850967 + 6480464 16344560;15489334;14702039;12690205;12477932;8889548;8125298;17207965 55281 Q9NV12 AACC02000025;ABBA01001113;AC083862;AK001862;AK225055;AK301268;AMYH01017955;BC020942;BM512090;BU683951;CH236950;CH471070;DB064371;DC323016;NM_018295 AAH20942;ADQ32793;BAA91948;BAG62831;EAL24065;EAW83839;NP_060765;Q9NV12 Hs.521213 1673350;1673675;1685542;1697316;1697522;1776014;2140899;2145845 GDB:1317588;GDB:4585155;RH102155;RH102265;RH80739;WI-18052;WI-18226;WI-18251 FLJ11000 OTTHUMP00000207984;transmembrane protein 140 protein-coding ENSG00000146859 21870 07723 VALIDATED 1317058 TMEM14A transmembrane protein 14A 6 6 6 p12.2 54196977 54212463 + 52643843 52659345 + 52535884 52551386 + 1580863;6480464 15489334;14574404;12477932;17207965;16712791;23142642;21723035;19322201 28978 Q9Y6G1 ABBA01050550;ABBA01050551;AF078864;AF239771;AK312063;AL109918;AMYH01016354;BC015097;BC019328;CB117714;CH471081;CS072353;NM_014051 AAD44496;AAF59948;AAH15097;AAH19328;ADQ32420;BAG34999;CAI93491;EAX04379;EAX04380;EAX04381;NP_054770;Q9Y6G1 Hs.94896 2142578 WI-18384 C6orf73;PTD011 OTTHUMP00000016609;transmembrane protein 14A protein-coding ENSG00000096092 21076 15522 VALIDATED 1607077 TMEM147 transmembrane protein 147 19 19 19 q13.1 32749998 32751881 + 40728385 40730268 + 36036502 36038429 + 6480464 16341674;14667819;16189514;15489334;12477932;20538592;21139048;21906983;23142642 10430 A8MU21;K7ELX3;Q9BVK8 ABBA01018746;AC002389;AMYH01009728;AW130399;AW473288;BC001118;BG697070;BM423809;BM765457;NM_001242597;NM_001242598;NM_032635;Y18007 AAH01118;CAA77013;NP_001229526;NP_001229527;NP_116024;Q9BVK8 Hs.9234 1677326;1768155;1851678;2157954;2191713 D19S678E;MARC_5519-5520:996690497:1;RH45737;RH79664;WI-16652 MGC1936;NIFIE14 OTTHUMP00000045776;OTTHUMP00000045777;OTTHUMP00000045779;protein NIFIE 14;seven transmembrane domain protein;transmembrane protein 147 protein-coding ENSG00000105677 30414 17633 613585 VALIDATED 1344544 TMEM14B transmembrane protein 14B 6 6 6 p25.1-p23 11976468 11985687 + 10856036 10865200 + 10747995 10757214 + 1580863;6480464 16344560;15489334;12477932;17207965;22939629 81853 B4DFL6;C9J786;C9JCY4;C9JDJ4;C9JQS0;F2Z2F8;F8WBI7;H7C541;H7C5F1;Q9NUH8 ABBA01022085;AK291883;AK294152;AK311340;AL024498;AMYH01016079;BC001033;BC007080;BC013913;BC071660;CH471087;DA508140;NM_001127711;NM_030969 AAH01033;AAH07080;AAH13913;AAH71660;ADQ31961;BAF84572;BAG57477;EAW55276;EAW55277;EAW55278;EAW55279;EAW55280;EAW55281;NP_001121183;NP_112231;Q9NUH8 Hs.95600 1687123;5016856;5017360;5037552 D8S2279;RH48992;RH92148;SHGC-172 FLJ60468;MGC1223 OTTHUMP00000016023;OTTHUMP00000016024;OTTHUMP00000214289;OTTHUMP00000214290;OTTHUMP00000214297;OTTHUMP00000214298;OTTHUMP00000214299;OTTHUMP00000214300;transmembrane protein 14B protein-coding ENSG00000137210 21384 15523 VALIDATED 2304150 TMEM150B transmembrane protein 150B 19 19 19 q13.42 52865217 52877710 - 60516039 60528520 - 55824227 55836708 - 6480464 19448619;15057824;12477932;22267201;23307926 284417 A6NC51;K7EKL2;K7EKW5;K7EM00;K7ENI3 ABBA01068108;ABBA01068109;AC020922;AMYH01009991;BC020862;BC171893;BC171901;BC171904;CH471135;NM_001085488 A6NC51;AAI71904;EAW72362;NP_001078957 Hs.382625 5022450;5127831 D10S275;SHGC-148662 TMEM224 hCG1651476;transmembrane protein 150B;transmembrane protein 224;transmembrane protein LOC284417 protein-coding ENSG00000180061 34415 PROVISIONAL 3564030 TMEM150C transmembrane protein 150C 4 4 4 q21.22 80696582 80774150 - 83624628 83702150 - 83405604 83483126 - 6480464 12477932;14702039;21906983 441027 B9EJG8;D6RAQ9;D6RDW6 ABBA01063436;ABBA01063437;AC067942;AK023055;AK297434;AK297512;AK299942;AK301116;AMYH01014353;AMYH01014354;BC147019;BC147027;CH471057;NM_001080506 AAI47020;AAI47028;B9EJG8;BAH12581;BAH12599;BAH13178;BAH13412;EAX05896;NP_001073975 Hs.507676 1666619;1699226;2126963;2166035;5014740;5015961 D15S1477;D17S610;RH103194;RH16393;SHGC-67910;STS-N39092 FLJ12993 OTTHUMP00000219680;OTTHUMP00000219682;OTTHUMP00000219684;transmembrane protein 150C protein-coding ENSG00000249242 37263 PROVISIONAL 1605297 TMEM150A transmembrane protein 150A 2 2 2 p11.2 85653954 85658106 - 85679182 85683332 - 85825670 85829822 - 6480464 16381901;15815621;15489336;15489334;14702039;12477932;11230166;11076863;10858565;16344560;17207965 129303 C9JN48;F2Z311;F8VVL7;Q86TG1 ABBA01075761;AC016753;AK074505;AK098152;AK291879;AMYH01010496;AW009533;BC050466;BX647409;CH471053;CQ782434;DA434376;NM_001031738;NR_033179 AAH50466;AAY24344;ADQ33127;BAC11029;BAF84568;CAF85721;CAL37402;EAW99496;EAW99497;EAW99498;EAW99499;EAW99500;EAW99501;EAW99502;EAW99503;NP_001026908;Q86TG1 Hs.591559 1646580;1651578;1683968;1751807;5019619 A005B34;D2S2855;G32218;RH92941;SHGC-105800 FLJ90024;TM6P1;TMEM150 OTTHUMP00000160668;OTTHUMP00000160669;OTTHUMP00000203094;fasting-inducible integral membrane protein TM6P1;transmembrane protein 150;transmembrane protein 150A protein-coding ENSG00000168890 24677 17006 VALIDATED 1350981 TMEM151B transmembrane protein 151B 6 6 6 p21.1 45791633 45800339 + 44346458 44355160 + 44238480 44247182 + 6480464 14702039;12477932;8889548;7894479;19773279 441151 H0Y9J4;Q8IW70 ABBA01050641;AK094365;AK124502;AK126839;AL139392;AL353588;AMYH01016322;BE671218;BM664874;L35592;NM_001137560 NP_001131032;Q8IW70 Hs.632851 1712581;1735610;1735630;1794022;2170479;2170481;2178390;2179126;5023733 A006H03;AU048745;D17Mit35;D6S1208E;D6S1246E;G20796;PMC310739P2;SHGC-32092;WI-15359 C6orf137;FLJ37046;FLJ42511;FLJ44683;FLJ44891;TMEM193;bA444E17.5 OTTHUMP00000016527;transmembrane protein 151B;transmembrane protein 193 protein-coding ENSG00000178233 21315 VALIDATED 1605045 TMEM156 transmembrane protein 156 4 4 4 p14 39406541 39471858 - 38644817 38710436 - 38968422 39034041 - 6480464 12477932 80008 J3KNV8;Q8N614 ABBA01004117;AC079921;AK026888;AMYH01014117;BC030803;BC060512;CH471069;NM_024943 AAH30803;BAB15583;EAW92905;EAW92906;EAW92907;NP_079219;Q8N614 Hs.374147 1700110 RH103668 FLJ23235 OTTHUMP00000158734;OTTHUMP00000218213;transmembrane protein 156 protein-coding ENSG00000121895 26260 08022 PROVISIONAL 1606118 TMEM151A transmembrane protein 151A 11 11 11 q13.2 63381653 63383997 + 65815917 65820711 + 66059373 66064135 + 6480464 15489334;12477932;8889548;21926972 256472 Q8N4L1 ABBA01024086;AL834459;AMYH01003733;AP001107;BC033898;BC035477;BM727563;BU732410;CH471076;DB477253;NM_153266 AAH33898;CAD39119;EAW74510;NP_694998;Q8N4L1 Hs.399779 2140230 STS-R15443 MGC33486;TMEM151 OTTHUMP00000234427;transmembrane protein 151;transmembrane protein 151A protein-coding ENSG00000179292 28497 14564 VALIDATED 1603167 TMEM154 transmembrane protein 154 4 4 4 q31.3 150870969 150924892 - 153766721 153820641 - 153547266 153601317 - 6480464 14702039;12477932;17207965;8889548 201799 D6R923;Q6P9G4 ABBA01070124;AC106882;AK056590;AK296694;AK309319;AMYH01014622;AMYH01014623;BC019600;BC060775;BM194190;BU688947;CH471056;NM_152680 AAH19600;AAH60775;ADQ32455;BAB71226;BAG59288;EAX04974;EAX04975;NP_689893;Q6P9G4 Hs.518900 1684014;1715401;1765329;2169787 D4S1298;RH120533;RH99297;SHGC-148822 FLJ32028 OTTHUMP00000220277;transmembrane protein 154 protein-coding 26489 08719 VALIDATED 733049 TMEM158 transmembrane protein 158 (gene/pseudogene) Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 45204342 45206200 - 45240960 45242818 - 45265956 45267814 - 6480464 16737913;16575872;16280139;16083501;15486950;12477932;11822868;11399754 25907 Q8WZ71 AB078417;ABBA01024732;ABBA01024733;AC010170;AF438313;AL080235;AMYH01013126;AMYH01013127;BC057390;BQ000094;BU627971;BX401325;BX459891;CH471055;FJ695198;HI574150;NM_015444 AAH57390;AAL30845;BAC05687;CAB45781;CBX47564;EAW64739;NP_056259;Q8WZ71 Hs.740403 2157749 SHGC-34650 BBP;DKFZp586E1621;RIS1;p40BBP 40 kDa BINP-binding protein;BINP receptor;OTTHUMP00000218001;Ras induced senescence 1;brain injury-derived neurotrophic peptide (BINP) binding protein;brain specific binding protein;transmembrane protein 158 APPROVED protein-coding ENSG00000249992 30293 15252 REVIEWED 7205016 TMEM161BP1 transmembrane protein 161B pseudogene 1 10 p11.21 37626343 37627799 + 11181995;17903294 646360 ABBA01033303;AL157387;AMYH01002259;CH471072;NG_022901 EAW85902;EAW85903 pseudo 44973 INFERRED 1604239 TMEM155 transmembrane protein 155 4 4 4 q27 120065643 120071897 - 122899535 122905790 - 122680085 122686340 - 6480464 15815621;15489334;14702039;16344560;12477932 132332 D6R9V5;Q4W5P6 ABBA01044729;AC079341;AK055396;AK310583;AMYH01014492;BC047657;BC059365;BI757990;CH471056;DA176165;NM_152399 AAH47657;AAY40967;BAB70915;EAX05253;EAX05254;EAX05255;NP_689612;Q4W5P6 Hs.27524;Hs.607691 1653106;1776000;1850865 Cda1kd08;SHGC-19128;SHGC-50333 FLJ30834 OTTHUMP00000164027;OTTHUMP00000164028;OTTHUMP00000164029;OTTHUMP00000219988;protein TMEM155 protein-coding ENSG00000164112 26418 08089 VALIDATED 1603558 TMEM161B transmembrane protein 161B 5 5 5 q14.3 83382871 83456477 - 87526779 87600421 - 87491023 87564665 - 6480464 12975309;12477932;19913121;20628086 153396 B7Z6A5;B7Z6T3;D6RAK4;D6RAR3;D6RBE8;E9PCX5;E9PFW6;Q8NDZ6 ABBA01062128;AC010243;AK299896;AK300006;AK300893;AK301091;AMYH01015472;AMYH01015473;AY358693;BC037287;BM479365;BX647345;BX648757;CH471084;DW443954;NM_153354 AAH37287;AAQ89056;ABM86543;ABW03664;BAH13165;BAH13191;BAH13369;BAH13407;CAI56713;EAW95937;EAW95938;EAW95939;EAW95940;EAW95941;EAW95942;EAW95943;NP_699185;Q8NDZ6 Hs.379972 1644232;1695664;1713351;2140372;5094963 D5S1893;RH119529;SHGC-14941;SHGC-78706;TMEM161B FLB3342;MGC33214;PRO1313 OTTHUMP00000162000;OTTHUMP00000222461;OTTHUMP00000222462;transmembrane protein 161B protein-coding ENSG00000164180 28483 14555 VALIDATED 1601747 TMEM159 transmembrane protein 159 16 16 16 p12 20479745 20501782 + 21077501 21099431 + 21169912 21191937 + 6480464 16303743;17562024;16344560;15589683;12477932;12401792;9110174;8619474;20379614;17207965;21139048;19322201 57146 B4DEC1;I3L288;I3L319;I3NI21;I3NI23;Q96B96 ABBA01028293;ABBA01028294;AC008551;AF001550;AF070596;AI968069;AK074667;AK293557;AMYH01007348;AW575176;AY212918;BC015812;BX647512;CH471228;CQ783556;CU448562;DA893031;DB054887;NM_020422 AAB67598;AAH15812;AAO52682;ADQ33165;BAC11122;BAG57032;CAF86723;EAW66854;EAW66855;EAW66856;EAW66857;EAW66858;NP_065155;Q96B96 Hs.258212 1647629;2158142;2166354 Cda0pg10;D16S2955;D16S734 PROMETHIN OTTHUMP00000162297;promethin protein-coding ENSG00000011638 30136 17428 611304 VALIDATED 1603037 TMEM161A transmembrane protein 161A 19 19 19 p13.11 19135267 19154101 - 19091430 19110267 - 19230425 19249310 - 6480464 16551573;14702039;12975309;12477932;8125298;15604093;16344560;21139048;21890473;21906983;22505724 54929 K7EJK6;K7EKY7;K7EN39;K7EPA3;K7EQ34;K7EQE7;Q9NX61 ABBA01051309;ABBA01051310;ABBA01051311;AC002126;AK000429;AK096964;AK225424;AMYH01009606;AY358088;BC005210;BC016478;CH471106;DA268563;DB311771;DB353676;NM_001256766;NM_017814 AAH05210;AAH16478;AAQ88455;ADZ15381;BAA91159;BAG53402;EAW84780;EAW84781;EAW84782;EAW84783;EAW84784;EAW84785;EAW84786;EAW84787;NP_001243695;NP_060284;Q9NX61 Hs.631629 2154725 WI-14120 AROS-29;FLJ20422;FLJ39645 transmembrane protein 161A protein-coding ENSG00000064545 26020 07905 VALIDATED 2881561 TMEM167AP1 transmembrane protein 167A pseudogene 1 Y Y Y q11.222 7770678 7776446 - 21473015 21478983 - 23063727 23069495 - 12815422 360028 ABBA01057489;ABBA01057490;ABBA01057491;AC009489;NG_002949 pseudo 23956 INFERRED 6480801 TMEM161B-AS1 TMEM161B antisense RNA 1 5 87564699 87732491 + 12477932;15146197;21890647;8889548 100505894 ABBA01062128;ABBA01062129;ABBA01062130;ABBA01062131;ABBA01062132;ABBA01062133;ABBA01062134;AC010243;AC016555;AC091826;AC114978;AMYH01015473;AMYH01015474;BC030122;BC047059;BF056341;BF672668;BM719684;CN260565;NR_039993;NR_039994;NR_039995 Hs.559426 1699820;1711398;2114986;2127581;2163526;5126586 D5S2566;D5S2855;G29279;G42183;RH103517;SGC34350 APPROVED miscrna ENSG00000247828 43839 VALIDATED 1606276 TMEM160 transmembrane protein 160 19 19 19 q13.32 44353047 44355762 - 52241007 52243722 - 47549167 47551882 - 6480464 15489334;14702039;12477932;20562859;20935630;19615732;23314748;22190034 54958 Q9NX00 ABBA01041000;ABBA01041001;AC008755;AK000519;AMYH01009875;BC002907;CH471126;NM_017854 AAH02907;BAA91225;EAW57455;NP_060324;Q9NX00 Hs.105606 FLJ20512 transmembrane protein 160 protein-coding ENSG00000130748 26042 07920 PROVISIONAL 1604280 TMEM163 transmembrane protein 163 2 2 2 q21.3 128926002 129189469 - 134930030 135193040 - 135213330 135476571 - 6480464 17623043;15815621;15489334;14702039;12477932;23209189 81615 Q8TC26 ABBA01028192;AC013718;AC093892;AC110620;AF255647;AI307369;AK054738;AL122044;AL833765;AMYH01011113;AMYH01011114;AW131848;BC026170;BM998960;CD705559;CH471058;NM_030923 AAG44635;AAH26170;AAX93249;AAY24144;CAB59180;CAH10592;EAX11653;EAX11654;NP_112185;Q8TC26 Hs.369471;Hs.595089 1761669;1763389;1763527;1779868;2153698;2164686 D2S2773;SHGC-145649;SHGC-147109;SHGC-147228;SHGC-153868;WI-13570 DC29;DKFZp566N034;DKFZp666J217;FLJ30176;SV31 OTTHUMP00000162504;transmembrane protein 163 protein-coding ENSG00000152128 25380 13178 VALIDATED 1604569 TMEM164 transmembrane protein 164 X X X q22.3 109725502 109900639 + 109133018 109303430 + 109245863 109421016 + 6480464 14702039;15772651;15489334;15342556;15146197;12477932;8889548;21906983 84187 Q5U3C3;Q9H617 ABBA01043428;ABBA01043429;ABBA01043430;ABBA01043431;ABBA01043432;ABBA01043433;ABBA01043434;ABBA01043435;ABBA01043436;ABBA01043437;ABBA01043438;ABBA01043439;ABBA01043440;ABBA01043441;ABBA01043442;ABBA01043443;ABBA01043444;ABBA01043445;AK000180;AK026332;AK057084;AK094127;AL359079;AL360224;AMYH01022840;BC002716;BC071977;BC085605;BP295095;BU681952;CH471120;CN349076;NM_017698;NM_032227 AAH85605;BAA90993;BAB15450;BAG52820;EAX02665;EAX02666;EAX02667;EAX02668;NP_060168;NP_115603;Q5U3C3 Hs.496572 1648386;1651325;2122369;2133013;2153239;2162545 AFM234WD6;DXS6822;DXS8322;L77302;RH41913;WI-14027 FLJ20173;FLJ22679;RP13-360B22.2;bB360B22.3 OTTHUMP00000023847;OTTHUMP00000023848;transmembrane protein 164 protein-coding ENSG00000157600 26217 06539 VALIDATED 1321545 TMEM17 transmembrane protein 17 2 2 2 p15 62572191 62578440 - 62581252 62586980 - 62727356 62733604 - 737633;6480464 12477932 15815621;15489334;14702039;17207965;22412388 200728 Q86X19 ABBA01075389;AC093159;AC107083;AK091902;AK124081;AMYH01010392;BC047439;CH471053;DR760587;NM_198276 AAH47439;AAY24048;AAY24170;ADQ32524;EAW99975;NP_938017;Q86X19 Hs.308028 5022200;5022578;5118444 D11S3316;D1S1423;L18426 FLJ34583 OTTHUMP00000159828;transmembrane protein 17 protein-coding ENSG00000186889 26623 15528 614950 VALIDATED 2293893 TMEM170B transmembrane protein 170B 6 6 6 p24.2 12766976 12811903 + 11646497 11691743 + 11538511 11583757 + 6480464 16344560 100113407 Q5T4T1 ABBA01022104;AL357518;AMYH01016084;BE670213;DB092520;NM_001100829 NP_001094299;Q5T4T1 Hs.146317 2185664;5015961;5022578 D15S1477;D1S1423;RH47323 OTTHUMP00000016033;transmembrane protein 170B protein-coding ENSG00000205269 34244 VALIDATED 1605052 TMEM168 transmembrane protein 168 7 7 7 q31.32 107217551 107242217 - 112193023 112217714 - 112405787 112430478 - 6480464 11256614;19240061;16344560;15146197;14702039;12477932;9847074;22779921 64418 B4DDS0;C9IZT1;C9JVE9;H7C268;Q9H0V1 AACC02000001;ABBA01057841;AC079621;AK023638;AK025482;AK293311;AK314460;AL136626;AMYH01017861;BC030804;BX421826;CH236947;CH471070;CN256103;DA116574;NM_022484 AAH30804;AAQ96836;BAB14624;BAG37068;BAG56831;CAB66561;EAL24373;EAW83470;EAW83471;EAW83472;NP_071929;Q9H0V1 Hs.709689 2124305;2162223;2174692;5093866 A009Y07;G32970;RH12793;WI-18254 DKFZp564C012;FLJ13576 OTTHUMP00000207377;OTTHUMP00000207378;OTTHUMP00000207379;OTTHUMP00000207428;OTTHUMP00000207430;transmembrane protein 168 protein-coding ENSG00000146802 25826 07831 VALIDATED 1603559 TMEM167A transmembrane protein 167A 5 5 5 q14.2 78253269 78277876 - 82387742 82408935 - 82348665 82373272 - 6480464 16344560;15489334;14702039;12477932;11181995;1316117;21890473 153339 Q8TBQ9 ABBA01062079;AC022416;AC104118;AI799606;AK000174;AK055070;AK055612;AK172803;AMYH01015451;AMYH01015452;BC026285;BC028585;BC070122;BC107575;BX647979;CH471084;DA100343;NM_174909 AAH26285;AAH28585;AAI07576;EAW95896;NP_777569;Q8TBQ9 Hs.355606 1653933;1671042;1689522;1767731;2149383;2149385 A005O23;A007J27;G20377;RH69439;SGC38225;WI-11874 DKFZp686I1152;FLJ30508;MGC23909;TMEM167 OTTHUMP00000222363;protein kish-A;transmembrane protein 167;transmembrane protein 167A protein-coding ENSG00000174695 28330 14490 VALIDATED 1604335 TMEM167B transmembrane protein 167B 1 1 1 p13.3 107902782 107908934 + 109434926 109441077 + 109633403 109639554 + 6480464 12477932;16710414;15489334;10931946;19322201 56900 Q9NRX6 ABBA01068370;ABBA01068371;AF164793;AK075191;AK291293;AK310192;AL356488;AMYH01000928;BC008739;BC065186;BC066918;BC067116;BC146873;BC146879;BC171849;CH471122;CS300507;NM_020141 AAF80757;AAH08739;AAH65186;AAH66918;AAH67116;AAI46874;AAI46880;AAI71849;BAF83982;CAK32171;EAW56356;EAW56357;NP_064526;Q9NRX6 Hs.82933 1685616;1690376;1696008;1854530;2132142;2157731;2165020;5015961;5037552 A002U44;D15S1477;D8S2279;HSC2NB082;RH27228;RH47769;SHGC-75274;SHGC-75301;SHGC-82776 AD-020;C1orf119;FLJ90710 OTTHUMP00000039346;protein kish-B;protein x 013 protein-coding ENSG00000215717 30187 16474 PROVISIONAL 1602990 TMEM169 transmembrane protein 169 2 2 2 q35 210716170 210737096 + 216654887 216675739 + 216946589 216967506 + 6480464 16344560;15815621;15489334;14702039;12477932;20463177;21906983 92691 C9J1P0;C9JZB1;Q96HH4 ABBA01062810;ABBA01062811;ABBA01062812;AC010686;AK091582;AK172731;AK313536;AMYH01011488;AW291087;BC008604;CH471063;CR933667;DA392602;DA718294;JA738651;JA738653;JA738655;JA738657;NM_001142310;NM_001142311;NM_001142312;NM_138390 AAH08604;AAY14658;BAC03700;BAG36313;CAI45964;CCF76978;CCF76979;CCF76980;CCF76981;EAW70559;EAW70560;EAW70561;NP_001135782;NP_001135783;NP_001135784;NP_612399;Q96HH4 Hs.334916 1734164;1791518;2163808;2187645;5109281 D1S1425;D2S1478;PMC113227P1;RH78434;WI-16791 DKFZp781L2456;FLJ34263 OTTHUMP00000164052;OTTHUMP00000206782;OTTHUMP00000206783;OTTHUMP00000206784;OTTHUMP00000206785;transmembrane protein 169 protein-coding ENSG00000163449 25130 14293 VALIDATED 1601750 TMEM165 transmembrane protein 165 This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 4 4 4 q12 53763917 53794196 + 55957114 55987099 + 56262080 56292342 + 6480464 16344560;15489334;14702039;12477932;10931946;3202867;21145461;22683087;20301507;23569283;22939629;21963094;21988832;23000965;21139048;21890473;21906983;23575229 55858 B4DHW1;D6RBL0;D6RD79;Q9HC07 ABBA01003412;AC069200;AF132746;AF183409;AF220188;AK026163;AK027162;AK054712;AK055076;AK290663;AK295289;AMYH01014190;BC003545;BC104978;BC104980;BC107582;CH471057;DA371259;HY089602;NG_032881;NM_018475;NR_073070 AAF67653;AAG09678;AAH03545;AAI04979;AAI04981;AAI07583;AAL75947;BAF83352;BAG51414;BAG58273;EAX05467;NP_060945;Q9HC07 Hs.479766 1680096;2145282;2156923;2185770;5121153 G16820;RH98838;SHGC-50745;STS-N25870;STS-N32858 CDG2K;FT27;GDT1;TMPT27;TPARL OTTHUMP00000158929;TPA regulated locus;transmembrane protein 165;transmembrane protein PT27;transmembrane protein TPARL APPROVED protein-coding ENSG00000134851 30760 18216 614726;614727 REVIEWED 1604539 TMEM170A transmembrane protein 170A 16 16 16 q23.1 59775225 59792897 - 74038418 74056085 - 75480917 75498584 - 6480464 14702039;12477932;19844255;17207965;21963094;23152477;21906983 124491 B3KT46;H3BQT8;H3BRD7;H3BS26;Q8WVE7 ABBA01058134;ABBA01058135;AC009163;AK094930;AK298475;AK311919;AMYH01007821;AY302139;BC018082;BX647432;BX648429;BX648484;CH471114;NM_145254 AAH18082;AAP57631;ADQ32674;BAG34860;BAG52958;BAG60686;EAW95642;EAW95643;EAW95644;NP_660297;Q8WVE7 Hs.487510 1644469;1679565;2137573;5014051;5015619;5016596;5022578;5024272;5037552 D11S3114;D1S1423;D2S1254;D8S2278;D8S2279;G17942;GDB:631802;RH65159;SHGC-53415 FLJ37611;TMEM170 OTTHUMP00000174954;transmembrane protein 170;transmembrane protein 170A protein-coding ENSG00000166822 29577 14027 PROVISIONAL 1606157 TMEM171 transmembrane protein 171 5 5 5 q13.2 68311763 68323014 + 72452158 72463397 + 72416388 72427644 + 6480464 16344560;15489334;15146197;12477932;12044878;22797727;17207965;21906983;23263486 134285 Q8WVE6 AB083614;ABBA01061914;AC116345;AMYH01015404;BC018083;BC035310;CH471084;CN261444;DB334050;NM_001161342;NM_173490 AAH18083;AAH35310;ADQ32493;BAB89327;EAW95717;EAW95718;NP_001154814;NP_775761;Q8WVE6 Hs.162246 PRP2 OTTHUMP00000161943;OTTHUMP00000222052;proline-rich protein PRP2;transmembrane protein 171 protein-coding ENSG00000157111 27031 14057 VALIDATED 1606156 TMEM174 transmembrane protein 174 5 5 5 q13.2 68364379 68366326 + 72499830 72506295 + 72469023 72470970 + 6480464 22797727;15489334;14702039;12477932;20331980 134288 Q8WUU8 ABBA01061914;AC116345;AK055830;AK315460;AMYH01015404;BC019346;CH471084;NM_153217 AAH19346;ADZ15847;BAB71025;BAG37847;EAW95719;EAW95720;NP_694949;Q8WUU8 Hs.508588 1699726 RH103468 FLJ31268;MGC13034 OTTHUMP00000161942;transmembrane protein 174 protein-coding ENSG00000164325 28187 14432 614909 VALIDATED 1604263 TMEM175 transmembrane protein 175 4 4 4 p16.3 863168 889353 + 916262 942444 + 926262 952444 + 6480464 15489334;14702039;12477932;21738487;21292315;21832049 84286 D3DVN5;D6RAJ5;D6RAU7;D6RBE5;D6RCD9;D6RDY8;D6RHV8;D6RIZ2;E7ETE6;Q9BSA9 ABBA01019346;ABBA01019347;AC019103;AK090848;AK309132;AL834199;AMYH01013841;BC005158;BC047738;BC063488;BC095416;BC118552;CH471131;NM_032326 AAH05158;ABM83841;ABM87163;BAG52239;CAD38888;EAW82633;EAW82634;EAW82635;EAW82636;EAW82637;EAW82638;EAW82639;EAW82640;EAW82641;EAW82642;EAW82643;NP_115702;Q9BSA9 Hs.478936 2141662 RH78064 MGC4618 OTTHUMP00000147524;OTTHUMP00000217332;OTTHUMP00000217338;OTTHUMP00000217340;transmembrane protein 175 protein-coding ENSG00000127419 28709 14648 PROVISIONAL 1602274 TMEM173 transmembrane protein 173 5 5 5 q31.2 134930158 134937391 - 138835733 138842476 - 138855113 138862343 - 6480464;6907045 15489334;19285439;19240791;18818105;18724357;18559423;14702039;12477932;19416887;19433799;8889548;17207965;22610502;21170271;22911572;23585680;22312431;21074459;21248775;21892174;22394560;22394562;21903422;20628368;23055924;21139048;22728658;22728659;22728660;22745133;22705373;22706339;22908223;22470840;23722158;22761576;23478444 340061 J3QTB1;Q86WV6 ABBA01026461;AC138517;AK095896;AK129800;AK290661;AMYH01015652;AX775913;BC047779;BM149879;BU731116;CH471062;FJ222241;NM_198282 AAH47779;ACI46648;ADQ33083;BAF83350;CAE11656;EAW62098;EAW62099;EAW62100;NP_938023;Q86WV6 Hs.379754 1342068;1735572;1740487;2142881;2167261 D5S1687E;D5S2282E;D5S2676;D9S290;WI-14299 ERIS;FLJ38577;MITA;MPYS;NET23;STING N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner;OTTHUMP00000159544;OTTHUMP00000223442;OTTHUMP00000223443;endoplasmic reticulum IFN stimulator;endoplasmic reticulum interferon stimulator;hMITA;hSTING;mediator of IRF3 activation;mitochondrial mediator of IRF3 activation;stimulator of interferon genes protein;transmembrane protein 173 protein-coding 27962 14173 612374 VALIDATED 1346739 TMEM179 transmembrane protein 179 14 14 14 q32.33 85116467 85127144 - 104131465 104142142 - 105060420 105071097 - 6480464 14702039;12508121 388021 H0YJT8;I3L0F2;Q6ZVK1 ABBA01002995;ABBA01002996;AK124477;AMYH01006062;BX927359;CH471061;NM_207379 AAI46361;AAI48845;BAC85860;EAW81867;EAW81868;EAW81869;NP_997262;Q6ZVK1 Hs.655004 C14orf90;FLJ42486;TMEM179A OTTHUMP00000244504;OTTHUMP00000244509;OTTHUMP00000244510;chromosome 14 open reading frame 90;transmembrane protein 179;transmembrane protein 179A protein-coding 20137 13464 PROVISIONAL 6767208 TMEM178B transmembrane protein 178B 7 q34 140774032 141180180 + 12690205;14702039;20379614;9847074 100507421 H3BS89 AACC02000020;ABBA01034092;ABBA01034093;ABBA01034094;ABBA01034095;ABBA01034096;ABBA01034097;ABBA01034098;ABBA01034099;ABBA01034100;AC004928;AC005692;AC006362;AC006396;AC073878;AK096481;AK124873;AL359605;AMYH01017996;AMYH01017997;CH236950;NM_001195278 H3BS89;NP_001182207 Hs.283851 1663327;1692684;1709824;1721757;1722399;1722587;1735660;1735688;1774017;1794810;1847331;1854743;1855408;1856478;1858520;2114479;2128804;2139878;2146211;2156078;2157206;2163896;2165087;2168412;2176808;2178907;2185113;5023733 AL034110;AU048745;D7S111;D7S1779;D7S2119E;D7S2144E;D7S2319;D7S2804;D7S2819;D7S545E;G59746;G60272;G60375;GDB:1317226;GDB:1317290;GDB:1317548;GDB:1317554;GDB:1317726;GDB:1317790;GDB:3754387;GDB:4584945;GDB:4585169;GDB:4585189;PMC58741P2;RH18406;SHGC-31093;SHGC-84731;WI-16153 transmembrane protein 178-like;transmembrane protein 178B protein-coding ENSG00000261115 44112 PROVISIONAL 1606306 TMEM176B transmembrane protein 176B 7 7 7 q36.1 145045399 145055476 - 150119308 150129381 - 150488375 150498448 - 6480464 9922225;16095493;15489334;15342556;14702039;12477932;11967007;22244448;17207965 28959 Q3YBM2 AACC02000108;ABBA01035176;AC006479;AF115384;AK000841;AK097304;AK129525;AK315575;AMYH01018140;BC004358;BC014586;BC091471;BF511290;BI759037;BI761752;BI910761;BP298052;CH471173;DQ144974;NM_001101311;NM_001101312;NM_001101314;NM_014020;R95048 AAD23440;AAH04358;AAH14586;AAH91471;AAZ75648;ADQ31874;BAG37949;BAG53450;EAL24488;EAW54076;EAW54077;EAW54078;EAW54079;EAW54080;NP_001094781;NP_001094782;NP_001094784;NP_054739;Q3YBM2 Hs.647090;Hs.709505 1338778;1664257;1767031;2109479;2116703;2118446;2183280;7187448 D7S505;LR8_9562;RH12854;RH68274;RH78660;SHGC-152676;STS-H41084 FLJ26014;LR8;MGC110857 LR8-like protein;OTTHUMP00000212294;OTTHUMP00000212295;OTTHUMP00000212296;OTTHUMP00000212297;OTTHUMP00000212298;OTTHUMP00000212299;transmembrane protein 176B protein-coding ENSG00000106565 29596 17443 610385 VALIDATED 1602320 TMEM176A transmembrane protein 176A 7 7 7 q36.1 145054882 145059236 + 150128787 150133141 + 150497854 150502208 + 6480464 15489334;14702039;12853948;12690205;12477932;12097419;11967007;8889548;22244448;20881960 55365 C9JJ63;C9JRT9;H7C4P5;Q96HP8 AACC02000108;ABBA01035176;AC006479;AF258340;AK123468;AMYH01018140;BC008303;BM663079;CH471173;NM_018487 AAF68667;AAH08303;AAP21884;EAL24489;EAW54088;EAW54089;EAW54090;EAW54091;NP_060957;Q96HP8 Hs.647116 2115643;5014057;5091201 D1S3699;D7S2901;WI-20421 GS188;HCA112 OTTHUMP00000212626;OTTHUMP00000212627;OTTHUMP00000212628;OTTHUMP00000212630;hepatocellular carcinoma-associated antigen 112;likley ortholog of mouse GS188;transmembrane protein 176A protein-coding ENSG00000002933 24930 13635 610334 VALIDATED 1344776 TMEM18 transmembrane protein 18 2 2 p25.3 657973 667439 - 667973 677439 - 737633;6480464 12477932 19240061;19164386;19079261;19079260;18559506;20628085;20571754;19692490;19746409;19812171;19851340;19910938;20215397;20380707;20386550;20421936;20520848;20935630;20712903;20724581;20725061;20816152;20816195;17207965;21102462;21952719;21720444;21980424;22229870;21890473;21906983;22466342;21750520;22083549;21963094;23000965;23149075;23229156;23251661 129787 B5MBX8;F8WBA6;F8WEA7;Q96B42 ABBA01035634;ABBA01035635;AC092159;AK125009;AL137269;AMYH01010046;BC016010;BC032379;BC040373;CH471053;NM_152834 AAH16010;AAH32379;AAY14770;ADQ31703;CAB70668;EAX01097;EAX01098;EAX01099;EAX01100;EAX01101;NP_690047;Q96B42 Hs.43899 1699500;1854577 RH103344;RH69423 DKFZp434C1714 OTTHUMP00000199926;OTTHUMP00000199928;transmembrane protein 18 protein-coding 25257 15529 613220 VALIDATED 1602302 TMEM178A transmembrane protein 178A 2 2 2 p22.1 39733602 39786061 + 39746594 39798607 + 39892638 39945103 + 6480464 16303743;12975309;12477932;16344560;23251661 130733 Q8NBL3 ABBA01075036;AC007246;AK075440;AMYH01010275;AMYH01010276;AY358773;BC029530;BI757636;CH471053;CS051257;DA062982;DN993805;NM_001167959;NM_152390 AAH29530;AAQ89133;AAX93064;ABM81922;BAC11622;CAI72124;EAX00343;EAX00344;NP_001161431;NP_689603;Q8NBL3 Hs.40808 1704572;1788976;1855428 G65633;SGC31151;SHGC-83094 MGC33926;TMEM178 OTTHUMP00000158744;transmembrane protein 178;transmembrane protein 178A APPROVED protein-coding ENSG00000152154 28517 14577 VALIDATED 5684194 TMEM183AP1 transmembrane protein 183A pseudogene 1 6 p21.3 29545236 29545525 + 100048909 ABBA01038033;AL645936;AL662826;AMYH01016195;BX000688;BX927223;CR759766;CR759770;CR788300;NG_031894 pseudo 33458 INFERRED 1604123 TMEM183B transmembrane protein 183B This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010] 3 3 3 q25.1 148112809 148114514 - 151182138 151184039 - 149699448 149701153 - 16644869;21906983 653659 Q1AE95 ABBA01058936;AC117395;AK297222;AMYH01013573;CH471052;DQ186292;DQ186293;DQ186294;DQ186295;DQ186296;DQ186297;DQ186298;DQ186299;DQ186300;DQ186301;DQ186302;DQ186303;DQ186304;DQ186305;DQ186306;DQ186307;DQ186308;DQ186309;DQ186310;DQ186311;DQ186312;DQ186313;DQ186314;DQ186315;DQ186316;DQ186317;DQ186318;DQ186319;DQ186320;DQ186321;DQ186322;DQ186323;DQ186324;DQ186325;DQ186326;DQ186327;DQ186328;DQ186329;DQ186330;DQ186331;DQ186332;DQ186333;DQ186334;DQ186335;DQ186336;DQ186337;DQ186338;DQ186339;DQ186340;DQ186341;DQ186342;DQ186343;DQ186344;DQ186345;DQ186346;DQ186347;DQ186348;DQ186349;DQ186350;DQ186351;DQ186352;DQ186353;DQ186354;DQ186355;DQ186356;DQ186357;DQ186358;DQ186359;DQ186360;DQ186361;DQ186362;DQ186363;DQ186364;DQ186365;DQ186366;DQ186367;DQ186368;DQ186369;DQ186370;DQ186371;DQ186372;DQ186373;DQ186374;DQ186375;DQ186376;DQ186377;DQ186378;DQ186379;DQ186380;DQ186381;DQ186382;DQ186383;DQ186384;DQ186385;DQ186386;DQ186387;DQ186388;DQ186389;DQ186390;DQ186391;DQ186392;DQ186393;DQ186394;DQ186395;DQ186396;DQ186397;DQ186398;DQ186399;DQ186400;DQ186401;DQ186402;DQ186403;DQ186404;DQ186405;DQ186406;DQ186407;DQ186408;DQ186409;DQ186410;DQ186411;DQ186412;DQ186413;NM_001079809 ABA18877;ABA18878;ABA18879;ABA18880;ABA18881;ABA18882;ABA18883;ABA18884;ABA18885;ABA18886;ABA18887;ABA18888;ABA18889;ABA18890;ABA18891;ABA18892;ABA18893;ABA18894;ABA18895;ABA18896;ABA18897;ABA18898;ABA18899;ABA18900;ABA18901;ABA18902;ABA18903;ABA18904;ABA18905;ABA18906;ABA18907;ABA18908;ABA18909;ABA18910;ABA18911;ABA18912;ABA18913;ABA18914;ABA18915;ABA18916;ABA18917;ABA18918;ABA18919;ABA18920;ABA18921;ABA18922;ABA18923;ABA18924;ABA18925;ABA18926;ABA18927;ABA18928;ABA18929;ABA18930;ABA18931;ABA18932;ABA18933;ABA18934;ABA18935;ABA18936;ABA18937;ABA18938;ABA18939;ABA18940;ABA18941;ABA18942;ABA18943;ABA18944;ABA18945;ABA18946;ABA18947;ABA18948;ABA18949;ABA18950;ABA18951;ABA18952;ABA18953;ABA18954;ABA18955;ABA18956;ABA18957;ABA18958;ABA18959;ABA18960;ABA18961;ABA18962;ABA18963;ABA18964;ABA18965;ABA18966;ABA18967;ABA18968;ABA18969;ABA18970;ABA18971;ABA18972;ABA18973;ABA18974;ABA18975;ABA18976;ABA18977;ABA18978;ABA18979;ABA18980;ABA18981;ABA18982;ABA18983;ABA18984;ABA18985;ABA18986;ABA18987;ABA18988;ABA18989;ABA18990;ABA18991;ABA18992;ABA18993;ABA18994;ABA18995;ABA18996;ABA18997;ABA18998;BAG59705;EAW78847;NP_001073277;Q1AE95 Hs.652908 1785596;1790207;2115150 BF397521;RH66529;SHGC-155248 C1orf37-DUP transmembrane protein 183B APPROVED protein-coding 33205 611365 VALIDATED 1606772 TMEM177 transmembrane protein 177 2 2 2 q14.2 113762466 113765417 + 120153213 120156164 + 120436743 120439694 + 6480464 15815621;15489334;15146197;14702039;12477932;17207965;22939629 80775 B8ZZT5;C9J6F8;Q53S58 AA243057;ABBA01045924;AC069154;AK096890;AK130088;AK299078;AK308503;AMYH01010988;AW027286;BC004404;BG280893;BG776153;CH471103;CN258689;NM_001105198;NM_001105199;NM_030577 AAH04404;AAY24148;ADQ32290;BAG53392;BAG61144;EAW95225;EAW95226;EAW95227;EAW95228;NP_001098668;NP_001098669;NP_085054;Q53S58 Hs.439991 1697924 RH102491 MGC10993 OTTHUMP00000203668;OTTHUMP00000203669;OTTHUMP00000203671;transmembrane protein 177 protein-coding ENSG00000144120 28143 14409 VALIDATED 1319594 TMEM180 transmembrane protein 180 10 10 10 q24.32 97962082 97977703 + 104211160 104226792 + 104221170 104236802 + 737633;6480464 12477932 15489334;15164054;14702039;12975309;21832049;19322201;21906983 79847 B4DKJ1;Q14CX5;Q6UWF4 ABBA01063154;AK026182;AK296583;AK301612;AL121928;AMYH01003018;AY358808;BC057787;BC067530;BC067531;BC113589;BG830198;CH471066;NM_024789 AAH57787;AAH67530;AAH67531;AAI13590;AAQ89168;ADR83056;BAB15385;BAG59203;BAG63098;EAW49689;NP_079065;Q14CX5 Hs.309069 1671725;1744313;5037552 D8S2279;GDB:451658;WI-15962 C10orf77;FLJ22529;RP11-18I14.8;bA18I14.8 chromosome 10 open reading frame 77;transmembrane protein 180 protein-coding ENSG00000138111 26196 12589 VALIDATED 1350892 TMEM181 transmembrane protein 181 The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010] 6 6 6 q25.3 159605468 159704461 + 158877456 158976455 + 158957468 159056467 + 1580863;6480464 17081983;16452613;15790807;14574404;12477932;10718198;19349973;19965467 57583 Q9P2C4 AB037844;ABBA01021087;ABBA01021088;AJ420476;AJ420523;AL359569;AL590242;AL591025;AMYH01016789;AMYH01016790;AY927471;AY927472;BC033450;BC044210;BC046100;BC058328;BC067769;BC092402;BC108681;NM_020823 AAH33450;BAA92661;NP_065874;Q9P2C4 Hs.99145 1663964;1668427;1682874;1721407;1853956;2173918;2181575;5014051 D8S2278;G59555;HUM000S407;RH12655;RH37423;RH46845;RH92386;SHGC-31686 GPR178;KIAA1423 G protein-coupled receptor 178;OTTHUMP00000017504;transmembrane protein 181 APPROVED protein-coding ENSG00000146433 20958 613209 VALIDATED 1601691 TMEM179B transmembrane protein 179B 11 11 11 q12.3 59883458 59886456 + 62311450 62314448 + 62554874 62557872 + 6480464 12477932;11053263;8889548;22939629 374395 G3V185;H0YEV1;Q7Z7N9 ABBA01003246;AMYH01003691;AP001160;BC051355;BE439533;BM684628;CH471076;NM_199337 AAH51355;EAW74098;EAW74099;EAW74100;NP_955369;Q7Z7N9 Hs.381134 1671776 STS-W92041 OTTHUMP00000236349;OTTHUMP00000236350;transmembrane protein 179B protein-coding ENSG00000185475 33744 14186 VALIDATED 1625808 TMEM185AP1 transmembrane protein 185A pseudogene 1 X q28 148850544 148854484 + 100506205 AC016939;AC232272;AC244098;NG_029343 1671528;2140637;2169432 A006O30;RH15882;WI-12227 FAM11C;TMEM185AL family with sequence similarity 11, member C;transmembrane protein 185A-like APPROVED pseudo 31717 INFERRED 1604752 TMEM182 transmembrane protein 182 2 2 2 q12.1 97579654 97635286 + 102744967 102800302 + 103378490 103434138 + 6480464 14702039;12975309;12477932;23382691 130827 B8ZZ71;C9IYX5;Q6ZP80 ABBA01073894;AC007251;AK054856;AK129862;AL832688;AMYH01010826;AY358262;BC020898;BC073844;BC107694;BC130306;BC130308;CH471127;CR936731;CR936732;CR936735;NM_144632 AAH20898;AAH73844;AAI07695;AAI30307;AAI30309;AAQ88629;AAY14911;ADR82867;BAB70815;BAC85244;EAX01785;EAX01786;NP_653233;Q6ZP80 Hs.436203 1655362;1663892;1689055;1710060;1734772 D2S1551E;RH68730;RH69444;RH94134;SHGC-82307 DKFZp779G1758;DKFZp779K1556;DKFZp779M1870;FLJ30294 OTTHUMP00000161339;OTTHUMP00000203111;transmembrane protein 182 protein-coding ENSG00000170417 26391 08698 VALIDATED 1349593 TMEM184C transmembrane protein 184C 4 4 4 q31.23 145859644 145877781 + 148758046 148776120 + 148538539 148556674 + 737633;6480464 12477932 17072649;16344560;14702039;11483580;8889548 55751 H0Y8I5;Q9NVA4 ABBA01070059;AC093835;AF305823;AK000169;AK001708;AMYH01014602;BC008120;BC046128;BM712423;CH471056;DA018837;NM_018241 AAH08120;AAH46128;AAK55526;BAA90988;BAA91851;EAX05015;EAX05016;NP_060711;Q9NVA4 Hs.203896 1649738;2144689;5022578 D1S1423;SHGC-32275;SHGC-59787 FLJ10846;TMEM34 OTTHUMP00000220094;OTTHUMP00000220096;transmembrane protein 184C;transmembrane protein 34 protein-coding 25587 07702 613937 VALIDATED 1320480 TMEM183A transmembrane protein 183A 1 1 1 q32.1 176105772 176122430 + 201243159 201259291 + 202976534 202993197 + 6480464 17613536;16644869;15489334;12477932;9110174;8619474;19536175;17207965;21832049;21906983 92703 Q8IXX5 ABBA01027487;AC096632;AF070537;AK291426;AK309745;AK312985;AL133052;AMYH01001653;BC013073;BC038952;BC067775;BC150647;CH471067;NM_138391 AAH13073;AAH38952;AAH67775;AAI50648;ADQ32724;BAF84115;BAG35822;EAW91456;EAW91457;EAW91458;NP_612400;Q8IXX5 Hs.497443 1735586;1785596;2115150;2152217;2170505 D1S1879E;RH66529;RH69448;SHGC-155248;SHGC-76164 C1orf37 OTTHUMP00000039000;chromosome 1 open reading frame 37;transmembrane protein 183A protein-coding 20173 12727 VALIDATED 1603256 TMEM184A transmembrane protein 184A 7 7 7 p22.3 1549127 1563240 - 1548397 1562592 - 1581871 1596066 - 6480464 16344560;14702039;12690205;12477932;8889548 202915 B7WNT3;C9J4I0;C9JDD9;C9JKG9;F8W8F1;F8WEG1;Q6ZMB5 AACC02000053;ABBA01039346;AC093734;AK075043;AK096790;AK096817;AK126312;AK172850;AK313249;AMYH01016962;BC026694;BM981655;CH236953;CH471144;DB215831;NM_001097620 AAH26694;BAC86522;BAD18814;EAW87210;EAW87211;NP_001091089;Q6ZMB5 Hs.592174;Hs.707784 1769953;2175837 A007E29;RH78695 FLJ24011;MGC9712 OTTHUMP00000147559;OTTHUMP00000200045;transmembrane protein 184A protein-coding 28797 14716 VALIDATED 1315295 TMEM184B transmembrane protein 184B 22 22 22 q12 22420001 22473764 - 36945244 36998962 - 38615298 38669040 - 6480464 12477932;17081983;16303743;15489334;15461802;14702039;12761501;10591208 25829 B0QY30;F2Z397;F8WCD4;Q9Y519 AB097053;ABBA01055509;AK075417;AK095109;AK292652;AK309071;AL020993;AL021977;AL096879;AL117649;AMYH01012760;BC012983;BC015489;BE243327;BI197128;BQ004586;BX648345;CH471095;CR456413;CR627445;CR749859;NM_001195071;NM_001195072;NM_012264 AAH15489;BAC11607;BAC77406;BAF85341;CAB51403;CAG30299;CAH10529;CAH56159;CAK54404;CAK54703;EAW60222;EAW60223;EAW60224;EAW60225;EAW60226;NP_001182000;NP_001182001;NP_036396;Q9Y519 Hs.182626 1673027;1735058 D22S992E;HSC0YA072 C22orf5;DKFZp586A1024;DKFZp686F07174;DKFZp686N1150;FM08;HS5O6A OTTHUMP00000028772;OTTHUMP00000082609;putative MAPK-activating protein FM08;transmembrane protein 184B protein-coding ENSG00000198792 1310 12801 VALIDATED 1604027 TMEM186 transmembrane protein 186 This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012] 16 16 16 p13.2 9058430 9060897 - 8796822 8798991 - 8889037 8891505 - 6480464 11256614;14702039;12477932;11230166;8125298;20877624;21890473 25880 Q96B77 ABBA01019730;AC012173;AK093383;AK225638;AK314404;AL080088;AMYH01007138;BC015912;BG682191;CA433910;CH471112;NG_009209;NG_033146;NM_015421 AAH15912;BAG37027;CAB45703;EAW85205;EAW85206;NP_056236;Q96B77 Hs.513330 1721435;2167309;2179218 G59569;RH48187;RH48235 C16orf51;DKFZp564K2062 OTTHUMP00000160108;transmembrane protein 186 protein-coding ENSG00000184857 24530 08527 VALIDATED 1351529 TMEM19 transmembrane protein 19 12 12 12 q21.1 71742079 71760004 + 70366145 70384107 + 72079878 72097840 + 737633;6480464 12477932 16189514;14702039;19322201 55266 F8VRE8;F8VS20;H0YHY1;H0YIS8;Q96HH6 ABBA01026511;AC073612;AK001798;AK025839;AK223148;AK315587;AMYH01004578;AMYH01004579;BC008596;CH471054;NM_018279 AAH08596;BAA91918;BAD96868;BAG37959;EAW97266;EAW97267;EAW97268;EAW97269;NP_060749;Q96HH6 Hs.644802 1775048;5015961;5022425;5037552 D15S1477;D22S296;D8S2279;RH48011 FLJ10936 OTTHUMP00000241538;OTTHUMP00000241539;OTTHUMP00000241541;transmembrane protein 19 protein-coding ENSG00000139291 25605 15530 VALIDATED 1347995 TMEM185A transmembrane protein 185A The protein encoded by this gene is predicted to be a transmembrane protein, but this has not been experimentally determined. This gene is better known for localizing to the CpG island of the fragile site FRAXF. The 5-prime untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] X X q28 148486015 148521375 - 148678216 148713487 - 1580863;6480464 15525354;15489334;14702039;12477932;12404111;12806492;7874164;7881407;8499907;8844091;8844097;9415475 84548 B7Z4G6;E5RFI9;E5RGV1;E5RJ20;E7EMM1;F5H5U0;H0YAP3;H0YBJ6;Q8NFB2 ABBA01049641;ABBA01049642;ABBA01049643;ABBA01049644;ABBA01049645;ABBA01049646;AC016940;AC231844;AC233288;AC244197;AF353675;AF530473;AK096308;AK097391;AK128688;AK297335;AMYH01023193;BC013793;BC022405;BC103820;BC103821;BC103822;BJ989805;CH471169;L35600;NG_016831;NM_001174092;NM_032508 AAH13793;AAH22405;AAI03821;AAI03822;AAI03823;AAK39521;AAM94598;BAC05031;BAG53255;BAG54711;BAH12552;EAW99367;EAW99368;EAW99369;NP_001167563;NP_115897;Q8NFB2 Hs.522172 1671528;2140637;2169432;5017913 A006O30;RH15882;TMEM185A;WI-12227 CXorf13;FAM11A;FRAXF;MGC118844;MGC118845 OTTHUMP00000216443;OTTHUMP00000226744;ee3;fragile site, folic acid type, rare, fra(X)(q28) F;transmembrane protein 185A APPROVED protein-coding ENSG00000155984 17125 06504 300031 REVIEWED 1345380 TMEM185B transmembrane protein 185B 2 2 2 q14.2 114305701 114307831 - 120695324 120697454 - 120975047 120980984 - 1580863;6480464 15525354;15489334;14702039;12477932;12404111;21139048 79134 Q9H7F4 ABBA01045915;AC012363;AF530474;AK021716;AK024632;AK090980;AMYH01010990;BC016849;BC068087;BC080607;NM_024121 AAY14799;NP_077026;Q9H7F4 Hs.376722 1655306;2120976;5022623 D11S2687;D2S2885;RH12252 FAM11B;FLJ11654;FLJ20979;FLJ33661 ee3_2;family with sequence similarity 11, member B;putative transmembrane protein 185B;transmembrane protein 185B (pseudogene) APPROVED protein-coding 18896 VALIDATED 1354491 TMEM187 transmembrane protein 187 This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010] X X X q28 153471703 153482353 + 152891185 152901840 + 153237991 153248646 + 6480464 12477932;11256614;15489334;8786131;8661027;17567994 8269 C9JIP7;C9JV55;Q14656 ABBA01045327;AI355489;AK314938;AMYH01023305;BC008203;BC017026;CH471172;CQ834240;CR457047;DQ655925;HI574288;NG_021222;NM_003492;U52112;X92475 AAH08203;AAH17026;BAG37444;CAA63213;CAG33328;CAH05335;CBX47633;EAW72766;NP_003483;Q14656 Hs.23119 1798770;1800650;1802182;1804196;1813166;1815734;1845780;2034734;2034736;2034738;2034740;2034742;2034744;2034746;2034748;2034750;2034752;2034754;2034756;2034758;2034760;2034762;2034764;2034766;2034768;2034770;2034772;2034774;2034776;2034778;2034780;2034782;2034784;2034786;2034788;2034790;2034792;2034794;2034796;2034798;2034800;2034802;2034804;2034806;2034808;2034810;2034812;2102180;2102182;2102184;2102186;2122836;2168949 DXS6989E;ECD00225;ECD01186;ECD01973;ECD03018;ECD07602;ECD08905;ECD24109;REN88376;REN88377;REN88378;REN88379;REN88380;REN88381;REN88382;REN88383;REN88384;REN88385;REN88386;REN88387;REN88388;REN88389;REN88390;REN88391;REN88392;REN88393;REN88394;REN88395;REN88396;REN88397;REN88398;REN88399;REN88400;REN88401;REN88402;REN88403;REN88404;REN88405;REN88406;REN88407;REN88408;REN88409;REN88410;REN88411;REN88412;REN88413;REN88414;REN88415;STS-X92475;stSG603736;stSG603737;stSG603739;stSG603740 CXorf12;DXS9878E;FLJ95849;ITBA1 OTTHUMP00000025991;OTTHUMP00000081767;OTTHUMP00000174622;chromosome x open reading frame 12;transmembrane protein 187 APPROVED protein-coding ENSG00000177854 13705 02086 300059 REVIEWED 1603241 TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough The TMEM189-UEV mRNA is an infrequent but naturally occurring read-through transcript of the neighboring TMEM189 and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein produced by this transcript has UEV1 B domains but the protein is localized to the cytoplasm rather than to the nucleus. The significance of this read-through mRNA and the function of its protein product has not yet been determined. [provided by RefSeq, Oct 2010] 20 20 20 q13.2 45402229 45474884 - 48131068 48203667 - 48697661 48770335 - 16236267;14702039;11076860;11076848;11057907;10089880;9771976;9705497;9418904;9305758;8889548;20677014;20967262;19322201;21890473;21906983;23000965;22505724 387522 A5PLL7;G3V2F7;Q9GZW1 ABBA01052772;ABBA01052773;AMYH01011971;BF982644;BG723381;BI838424;BM556348;BQ010001;BQ223768;BU156219;BU619725;BU860198;CF145300;CR738799;NM_199203;U39361 AAB72016;AAI72339;NP_954673 Hs.744839 1687481;1773904;1791702;1791704;2110483;2122247;2127468;2156953;2184323;5024411;5106423;5117202;5126825;5126827 D20S551E;D2S1964;G26465;GDB:451742;HSC0RC102;Kua__7422;PMC121525P1;PMC121525P2;PMC121525P3;PMC121525P4;RH11748;RH63738;RH92983;SHGC-173 CROC-1B;CROC1B;KUA-UEV;UBE2V1 OTTHUMP00000031797;TMEM189-UBE2V1 fusion protein;TMEM189-UBE2V1 readthrough transcript;transmembrane protein 189-ubiquitin-conjugating enzyme E2 variant 1 read-through;ubiquitin-conjugating enzyme E2 variant 1 APPROVED protein-coding ENSG00000124208;ENSG00000240849 33521 04294;11926 REVIEWED 1641967 TMEM191B transmembrane protein 191B 22 22 22 q11.21 5497133 5500149 - 18756772 18761125 + 20377669 20380440 + 14702039;10591208 728229 P0C7N4 ABBA01001223;AC023490;AK093171;AMYH01012495;AMYH01012496;NM_001242313;XM_003960911;XM_003960912 NP_001229242;P0C7N4;XP_003960960;XP_003960961 Hs.376511 5113162 RH99253 transmembrane protein 191B protein-coding 33600 VALIDATED 2293905 TMEM194B transmembrane protein 194B 2 2 2 q32.2 184966557 184994411 - 191077313 191108164 - 191371619 191399468 - 6480464 15815621;11181995;21139048 100131211 A6NFY4;B4DYG6;C9J4F2;F8VWJ7;H7C232 ABBA01062386;AC093388;AK296987;AK302425;AMYH01011346;CH471058;NM_001142645 A6NFY4;BAG63728;BAH12468;EAX10866;NP_001136117 Hs.659824 1676868 RH93655 OTTHUMP00000205731;UPF0571 transmembrane protein;transmembrane protein 194B protein-coding 33700 VALIDATED 1603242 TMEM189 transmembrane protein 189 Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 20 20 20 q13.2 45444831 45474884 - 48173714 48203667 - 48740274 48770335 - 6480464 14702039;12477932;11280764;11076860;11076848;16129784;21048031;21555518;22939629;20420830;19322201;21565611;21890473;21906983 387521 A5PLL7;F8W924;F8WBY2;G3V2F7;Q5TGE1;Q5TGE2 AB044550;ABBA01052773;AF155120;AK023028;AK304595;AL034423;AMYH01011971;BC018893;BC142966;BC144612;CQ834902;NM_001162505;NM_199129;NR_027889 A5PLL7;AAF08702;AAI40090;AAI42967;AAI43092;BAB14364;BAB18652;BAG65381;CAH05666;NP_001155977;NP_954580 Hs.744839 1687481;2110483;2122247;2127468 D20S551E;Kua__7422;RH63738;RH92983 KUA;UBE2V1 OTTHUMP00000031794;OTTHUMP00000031798;transmembrane protein 189;ubiquitin-conjugating enzyme E2 variant 1 APPROVED protein-coding ENSG00000240849 16735 17257 610994 REVIEWED 1641960 TMEM191C transmembrane protein 191C 22 22 q11.21 20150532 20154909 + 21821459 21824224 + 6480464 14702039;16344560 645426 A6NGB0 AK094309;AK094490;AK308704;AL041322;AMYH01012615;AP000557;BI827697;BQ928994;DB167488;NM_001207052;XM_003960817 A6NGB0;NP_001193981;XP_003960866 Hs.376511;Hs.645547 5015404;5016478;5022578;5037552;5113162 D1S1423;D8S2279;GDB:434012;L17705;RH99253 FLJ36990 transmembrane protein 191C protein-coding 33601 VALIDATED 1604743 TMEM190 transmembrane protein 190 19 19 19 q13.42 52929027 52930435 + 60580016 60581424 + 55888204 55889612 + 6480464 12477932;21273369 147744 Q8WZ59 ABBA01068100;AC020922;AF442729;AMYH01009995;BC128189;BC128190;CH471135;NM_139172 AAI28190;AAI28191;AAL35294;EAW72372;NP_631911;Q8WZ59 Hs.590943 MDAC1;MGC149301;MGC149302 transmembrane protein 190 protein-coding ENSG00000160472 29632 14373 PROVISIONAL 2303481 TMEM191A transmembrane protein 191A (pseudogene) 22 22 22 q11.21 5433908 5435045 + 19385220 19387790 + 21055402 21058891 + 6480464 15461802;12477932;11230166;11181995 84222 Q9H0A3 ABBA01015447;AC007050;AK313335;AL136879;AMYH01012538;BC126323;BC126325;CH878607;CH891377;CR456359;NR_026815 BAG36139;CAB66813;CAG30245;EAW50622;EAW50623;EAW50624;EAW50625;EAW50626;EAW50627;EAW50847;Q9H0A3 Hs.546454 DKFZp434G1017;DKFZp434N035;MGC161601;MGC161603;TMEM191AP APPROVED pseudo ENSG00000226287 25317 13197 PREDICTED 1605296 TMEM198 transmembrane protein 198 2 2 2 q35 214178708 214185280 + 220116989 220123561 + 220408745 220415317 + 6480464 12477932;17207965;21536646 130612 C9JFY7;C9JXI5;Q66K66 ABBA01023840;AC009955;AK123175;AK302369;AMYH01011509;BC068567;BC080573;CH471063;NM_001005209 AAH80573;ADQ32004;BAG53876;BAG63691;EAW70771;EAW70772;EAW70773;NP_001005209;Q66K66 Hs.446664 1803100;1803172;1805038;1814976;1821248;1822346;1822568;1824230;1831668;1843444;1964824;1964826;1964828;1964830;1964832;1964834;1964836;1964838;1964840;1964842;1964844;1964846;1964848;1964850;1964852;1964854;1964856;1964858;1964860;1964862;1964864;1964866;1964868;1964870;1964872;1964874;1964876;1964878;1964880;1964882;1964884;1964886;1964888;1964890;1964892;1964894;1964896;1964898;1964900;1964902;2214050;2214052;2214054;2214056 ECD02441;ECD02477;ECD03460;ECD08519;ECD11701;ECD12261;ECD12372;ECD13212;ECD16971;ECD22931;REN53286;REN53287;REN53288;REN53289;REN53290;REN53291;REN53292;REN53293;REN53294;REN53295;REN53296;REN53297;REN53298;REN53299;REN53300;REN53301;REN53302;REN53303;REN53304;REN53305;REN53306;REN53307;REN53308;REN53309;REN53310;REN53311;REN53312;REN53313;REN53314;REN53315;REN53316;REN53317;REN53318;REN53319;REN53320;REN53321;REN53322;REN53323;REN53324;REN53325;stSG633080;stSG633081;stSG633082;stSG633083 FLJ41180;MGC99813;TMEM198A OTTHUMP00000065224;OTTHUMP00000065225;transmembrane protein 198 protein-coding ENSG00000188760 33704 14718 PROVISIONAL 1606932 TMEM196 transmembrane protein 196 7 7 7 p21.1 19743241 19796711 - 19725463 19779541 - 19758938 19812404 - 12477932;17903292 256130 B7WNR7;F8WE15;Q5HYL7 AACC02000007;ABBA01056660;AC004543;AMYH01017100;AMYH01017101;BC030104;BX647256;BX648384;CH236948;CH471073;DN991960;NM_152774 AAH30104;CAI46055;EAW93715;EAW93716;EAW93717;NP_689987;Q5HYL7 Hs.487670 1687556;1789008 G65715;RH98553 DKFZp686H19205;DKFZp686K0753;MGC42090 OTTHUMP00000201820;OTTHUMP00000201844;transmembrane protein 196 protein-coding ENSG00000173452 22431 14617 VALIDATED 1345256 TMEM200A transmembrane protein 200A 6 6 6 q23.1 131504667 131510617 + 130799955 130805905 + 130687426 130764212 + 737633;6480464 12477932 15722956;11572484;16344560 114801 A8K2A1;Q86VY9 AB052099;AB067500;ABBA01025900;AK290166;AK294359;AK315824;AL121947;AL137185;AL137251;AL450330;AMYH01016672;BC044246;CH471051;DA164344;DA657363;JA738675;NM_001258276;NM_001258277;NM_001258278;NM_052913 AAH44246;BAB67806;BAD05135;BAF82855;BAF98715;BAG57623;CCF76990;EAW48068;NP_001245205;NP_001245206;NP_001245207;NP_443145;Q86VY9 Hs.591341 1651131;1761109;1778189 RH46234;SHGC-145116;SHGC-56517 KIAA1913;TTMA;TTMC found in a patient with schizophrenia;transmembrane protein 200A;two transmembrane C protein-coding ENSG00000164484 21075 13901 VALIDATED 3302319 TMEM200C transmembrane protein 200C 18 18 18 p11.31 5775689 5778074 - 5880184 5882103 - 5890184 5892103 - 15722956;16177791 645369 A6NKL6 ABBA01049884;ABBA01049885;AMYH01008787;AP005433;BK005124;NM_001080209 A6NKL6;AAI69201;DAA05326;NP_001073678 Hs.346566 1687706 RH98587 TTMA transmembrane protein 200C;transmembrane protein TTMA;two transmembrane domain family member A;two transmembrane domain-containing family member A protein-coding ENSG00000206432 37208 PROVISIONAL 5684100 TMEM198B transmembrane protein 198B, pseudogene 12 q13.2 56223392 56230030 + 6480464 12477932;12975309;14702039 440104 Q71RD9 ABBA01008390;AC023055;AF370398;AK057179;AK094261;AK095340;AMYH01004497;AW139988;AY358778;BC072431;BX648969;CH471054;NR_036476;NR_036477;NR_036478;NR_036479 AAQ15234;AAQ89138;BAG53031;EAW96842 Hs.731828 1672887;1677052;1719687;1767682;2177276 A005E01;D12S2129;RH123532;RH80350;WI-20946 pseudo ENSG00000182796 43629 VALIDATED 2289768 TMEM202 transmembrane protein 202 15 15 15 q24.1 49576835 49586875 + 70477722 70487762 + 72690668 72700708 + 6480464 338949 A6NGA9;H3BUG9 ABBA01038728;AC009690;AC079322;AK131033;AMYH01006762;NM_001080462 A6NGA9;NP_001073931 Hs.446069 1690190;2122327 D15S791;RH92065 FLJ27523 transmembrane protein 202 protein-coding 33733 PROVISIONAL 1602829 TMEM192 transmembrane protein 192 4 4 4 q32.3 163328647 163365196 - 166216680 166253474 - 165997230 166034024 - 6480464 14702039;12477932;7566098;17207965;18029348;20370317;21674799;21139048;21890473;21906983;22736246;22190034 201931 D6RAZ6;Q8IY95 AA346826;ABBA01070290;AC055120;AC108465;AK095801;AMYH01014673;AW137472;BC036301;BX538029;BX648915;CH471056;HH957993;HH957995;NM_001100389 AAH36301;ADQ31590;BAC04628;CAD97974;CBX51260;CBX51261;EAX04826;NP_001093859;Q8IY95 Hs.704511 2139834;2175287;5014051;5017227;5024516;5037552 D13S1568;D8S2278;D8S2279;G38154;SHGC-33189;SHGC-50355 FLJ38482 OTTHUMP00000219949;OTTHUMP00000219950;transmembrane protein 192 protein-coding ENSG00000170088 26775 08787 VALIDATED 1603697 TMEM194A transmembrane protein 194A 12 12 12 q13.3 57103357 57126501 - 55735693 55758813 - 57449426 57472574 - 6480464 16344560;15489334;12477932;12168954;9179496;21906983;19322201 23306 G3V5K2;O14524 AB006624;ABBA01008447;ABBA01008448;AC023237;AC026120;AK294566;AL833310;AL833311;AMYH01004511;BC071597;BC117436;BC126300;BC144029;BQ001525;CH471054;CR749406;DA724501;DB123768;NM_001130963;NM_015257 AAH71597;AAI17437;AAI26301;ADR82977;BAA22955;BAG57761;CAH18250;EAW96984;EAW96985;EAW96986;NP_001124435;NP_056072;O14524 Hs.591040 1684429;2120098;2125769;2145758;2148912;5093928 A009Z07;G29264;G33006;RH65073;SHGC-32440;STS-H82851 DKFZp686N1768;KIAA0286;TMEM194 OTTHUMP00000244905;OTTHUMP00000244906;transmembrane protein 194;transmembrane protein 194A protein-coding ENSG00000166881 29001 13793 VALIDATED 1348837 TMEM199 transmembrane protein 199 17 17 17 q11.2 23546441 23550846 + 23708814 23713216 + 26684687 26689089 + 6480464 15489334;12477932;21906983 147007 E9PBQ3;J3KRW7;J3KS81;K7EJL8;Q8N511 ABBA01015060;AC002094;AK223584;AK291475;AK293909;AK311363;AMYH01008277;AY074907;BC033113;CH471159;NM_152464 AAH33113;AAO12163;BAD97304;BAF84164;BAG57294;EAW51079;EAW51080;NP_689677;Q8N511 Hs.707906 1650548;1680060;1754397;2175174 Cda01c02;D17S1555;SHGC-132409;SHGC-30273 C17orf32;MGC45714 OTTHUMP00000163320;OTTHUMP00000219928;transmembrane protein 199 protein-coding 18085 12679 PROVISIONAL 1606080 TMEM200B transmembrane protein 200B 1 1 1 p35 27842086 27846565 - 29318527 29322994 - 29445937 29450421 - 15722956;12477932 399474 Q69YZ2 ABBA01035075;AI367819;AL110282;AL357500;AMYH01000441;AMYH01000442;BC033289;BC064375;BC064538;BC082989;BC110336;NM_001003682;NM_001171868 AAH64375;AAH64538;AAH82989;AAI10337;CAH10727;NP_001003682;NP_001165339;Q69YZ2 Hs.712722 1653440;1682133;1701678;1852401;2108061 D1S3570;EPB41__7595;G34848;RH104511;RH98235 MGC102864;MGC90489;TTMB OTTHUMP00000225038;OTTHUMP00000225039;transmembrane protein 200B;transmembrane protein TTMA;two transmembrane B;two transmembrane domain-containing family member B protein-coding ENSG00000253304 33785 13188 VALIDATED 1317427 TMEM2 transmembrane protein 2 9 9 9 q21.13 44870266 44956591 - 73488103 73573228 - 74298282 74383800 - 6480464 10767548;16344560;14702039;12477932;10718198;20379614;22610944;21139048;19322201;23000965 23670 B4E1B9;F5GZC1;F5H6B2;H3BLX9;H3BLY0;Q9P2D5 AB037833;ABBA01033838;ABBA01033839;ABBA01033840;ABBA01033841;AF137030;AK027818;AK075370;AK300405;AK303765;AL161732;AL671309;AMYH01021398;BC044850;BC140773;BC144510;BC146780;BC171782;CA418327;CH471089;CR990222;DA865249;NM_001135820;NM_013390 AAF21348;AAI40774;AAI46781;BAA92650;BAC11574;BAG51381;BAG62135;BAG64731;EAW62517;EAW62518;EAW62519;EAW62520;NP_001129292;NP_037522;Q9UHN6 Hs.494146 1649054;1669674;1678297;1704044;1761311;1769445;1778060;1787080;2146965;2179739 G20809;RH16236;RH17266;RH46242;SHGC-145323;SHGC-154793;SHGC-34849;SHGC-77847;STS-N30818;WIAF-2208 OTTHUMP00000021450;OTTHUMP00000239948;transmembrane protein 2 protein-coding ENSG00000135048 11869 09317 605835 VALIDATED 1605598 TMEM203 transmembrane protein 203 9 9 9 q34.3 110612756 110614312 - 139218355 139219911 - 140098534 140100090 - 6480464 12477932;19615732 94107 Q7Z4H1;Q969S6 ABBA01022748;AF529372;AL929554;AMYH01021893;AX775751;BC009283;BC009461;BC067786;CH471090;CS488888;NG_027801;NM_053045 AAH09283;AAH09461;AAH67786;AAQ09606;CAE11575;CAM55962;EAW88365;NP_444273;Q969S6 Hs.231029 2139111 RH18280 HBEBP1;MGC14327;MGC15961 HBeAg-binding protein 1;OTTHUMP00000206932;transmembrane protein 203 protein-coding ENSG00000187713 28217 17496 VALIDATED 1604210 TMEM201 transmembrane protein 201 1 1 1 p36.22 8762143 8781135 + 9571567 9587594 + 9648932 9674935 + 6480464 19494128;16344560;12477932;21890473 199953 E9PBR6;H0Y4R5;H0Y994;Q5SNT2 ABBA01035559;ABBA01035560;AI685174;AL954705;AMYH01000241;BC121187;BC137291;BE676679;BG828926;BX648377;DA603558;NM_001010866;NM_001130924 AAI21188;AAI37292;NP_001010866;NP_001124396;Q5SNT2 Hs.632365;Hs.706017 1732944;2126997;2147591 D1S1338;SHGC-74172;SHGC-74196 NET5;RP13-15M17.2 OTTHUMP00000063148;OTTHUMP00000063149;OTTHUMP00000063150;spindle-associated membrane protein 1;transmembrane protein 201 protein-coding ENSG00000188807 33719 17991 VALIDATED 2292188 TMEM210 transmembrane protein 210 9 9 q34.3 139185201 139187887 - 140065380 140068066 - 6480464 15164053 100505993 A6NLX4;H3BNS5 ABBA01022747;AL929554;AMYH01021893;DB459119;XM_003846333;XM_003846722;XM_003960464 A6NLX4;XP_003846381;XP_003846770;XP_003960513 Hs.512463 1681580 RH92573 FLJ90254 transmembrane protein 210 protein-coding 34059 MODEL 1605798 TMEM205 transmembrane protein 205 19 19 19 p13.2 11348326 11351855 - 11314458 11317722 - 11453452 11456981 - 6480464 12975309;12477932;17207965;20589834;21139048;21906983 374882 K7EJQ9;K7ELQ9;K7EM09;K7EMV9;K7EPR0;K7ER05;Q6UW68 ABBA01029860;AC024575;AK127147;AK291979;AMYH01009483;AY358949;BC008365;BC064948;BC071616;BC091472;BE889078;CH471106;NM_001145416;NM_033408;NM_198536 AAH64948;AAH91472;AAQ89308;ADQ32606;BAC86852;BAF84668;EAW84191;EAW84192;EAW84193;EAW84194;EAW84195;EAW84196;EAW84197;NP_001138888;NP_212133;NP_940938;Q6UW68 Hs.8036 1852682 STS-N25233 MGC110858;MGC3205;UNQ501 MBC3205;transmembrane protein 205 protein-coding ENSG00000105518 29631 18605 613771 VALIDATED 2300031 TMEM212 transmembrane protein 212 3 3 3 q26.31 169961011 169976978 + 171561139 171577108 + 171561139 171577108 + 6480464 16641997;16344560;14702039;20889312;21701570;22566498;22828495 389177 A6NML5;H7C098;H7C390 ABBA01058663;AC055714;AK026825;AMYH01013650;DB199311;NM_001164436 A6NML5;NP_001157908 Hs.642307 FLJ23172 OTTHUMP00000210768;OTTHUMP00000210842;OTTHUMP00000210899;transmembrane protein 212 protein-coding ENSG00000186329 34295 VALIDATED 1350691 TMEM204 transmembrane protein 204 C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008] 16 16 16 p13.3 1796505 1817517 + 1524232 1545244 + 1578742 1605581 + 6480464 15489334;15206924;14702039;12975309;12477932;12136098;11157797 79652 Q9BSN7 ABBA01030303;AE006467;AJ323237;AK024551;AL031719;AMYH01007037;AY358178;AY676494;BC004932;BC020425;BC105785;BQ182532;CH471112;NG_032783;NM_001256541;NM_024600 AAH04932;AAI05786;AAK61286;AAQ88545;AAT78423;ADZ15831;BAB14926;EAW85645;EAW85646;NP_001243470;NP_078876;Q9BSN7 Hs.459652 C16orf30;CLP24;FLJ20898;MGC111564 chromosome 16 open reading frame 30;claudin-like protein 24;transmembrane protein 204 APPROVED protein-coding ENSG00000131634 14158 611002 VALIDATED 6481173 TMEM212-AS1 TMEM212 antisense RNA 1 100874219 AC055714 APPROVED miscrna 41939 6481075 TMEM212-IT1 TMEM212 intronic transcript 1 (non-protein coding) 100874359 AC055714 miscrna 41505 1602436 TMEM207 transmembrane protein 207 3 3 3 q28 188576940 188598162 - 191629138 191650359 - 190146444 190167665 - 22226915;12975309;12477932;17207965;19322201 131920 Q6UWW9 ABBA01058328;AC009520;AMYH01013757;AY358607;BC071780;CH471052;NM_207316 AAH71780;AAQ88970;ADQ32001;EAW78105;NP_997199;Q6UWW9 Hs.335321 2218632 UNQ846__5021 UNQ846 OTTHUMP00000209497;SRSR846;transmembrane protein 207 protein-coding ENSG00000198398 33705 15621 614786 PROVISIONAL 1605689 TMEM208 transmembrane protein 208 16 16 16 q22.1 51769250 51771416 + 65818517 65820683 + 67261016 67263182 + 6480464 12477932;11042152 29100 H3BMW4;J3KRY7;J3QRY9;Q9BTX3 ABBA01025432;AC040160;AF161519;AMYH01007745;BC003080;BC013412;BC021109;BF316569;BI838179;CH471092;NM_014187 AAF29134;AAH03080;AAH13412;AAH21109;ABM83497;ABM86572;ABM86712;EAW83105;EAW83106;EAW83107;EAW83108;NP_054906;Q9BTX3 Hs.433203 1679912;1680138;1690282;1697856 RH102455;RH79964;RH80137;RH91432 HSPC171 transmembrane protein 208 protein-coding ENSG00000168701 25015 13710 VALIDATED 1601903 TMEM215 transmembrane protein 215 9 9 9 p21.1 32714718 32720420 + 32773497 32779199 + 32783497 32789199 + 6480464 22658931;8889548 401498 Q68D42 ABBA01065075;AK125320;AL157884;AMYH01019320;BM681172;BX647550;CH471071;CR749589;NM_212558 BAC86126;CAH18388;CAH56136;EAW58538;EAW58539;NP_997723;Q68D42 Hs.522063 DKFZp686I2292;FLJ43330 OTTHUMP00000159909;transmembrane protein 215 protein-coding 33816 17393 VALIDATED 1605555 TMEM211 transmembrane protein 211 22 22 22 q11.23 9135586 9139692 - 23661208 23665314 - 25331208 25335314 - 15461802;12477932;20379614 255349 Q6ICI0 ABBA01055160;AL050312;AMYH01012673;BC130647;BC130649;CH471095;CR456388;NM_001001663 AAI30648;AAI30650;ADR82809;CAG30274;EAW59682;NP_001001663;Q6ICI0 Hs.329040 MGC163519;MGC163521;bA9F11.1 OTTHUMP00000198495;transmembrane protein 211 protein-coding ENSG00000206069 33725 17327 PROVISIONAL 1602479 TMEM206 transmembrane protein 206 1 1 1 q32.3 185763548 185813983 - 210604439 210654890 - 212537816 212588267 - 6480464 16710414;15489334;14702039;12477932;17207965;21906983 55248 Q9H813 ABBA01048175;ABBA01048176;ABBA01048177;AC092803;AK001736;AK024066;AK295224;AK297200;AL360091;AMYH01001707;BC006320;CH471100;CR457268;DC411913;NM_001198862;NM_018252 AAH06320;ADQ32681;BAA91870;BAB14810;BAG58217;BAH12522;CAG33549;EAW93390;EAW93391;NP_001185791;NP_060722;Q9H813 Hs.445386 2129700;2137507 D1S2233;RH78888 C1orf75;FLJ10874;RP11-384C4.5 OTTHUMP00000034892;transmembrane protein 206 protein-coding ENSG00000065600 25593 07707 VALIDATED 1605919 TMEM209 transmembrane protein 209 7 7 7 q32.2 124600320 124641097 - 129591791 129632574 - 129804555 129845338 - 6480464 16344560;14962666;14702039;12958361;12477932;21139048;21890473;21906983;19322201;22505724;22719065 84928 C9J5K4;C9JYX1;H7BXV2;Q96SK2 AACC02000033;ABBA01057592;AC087071;AI589217;AK027678;AK027709;AK074732;AMYH01017933;BC016721;BC045618;BC057784;BU177118;CH236950;CH471070;CS300556;DB021198;NM_032842 AAH45618;AAH57784;BAB55289;BAB55314;BAC11168;CAK32220;EAL24094;EAW83748;EAW83749;NP_116231;Q96SK2 Hs.267245 1751949;1752741;2161554;5015861;5037552;7185938 D10S16;D8S2279;SGC32605;SHGC-105950;SHGC-106579 FLJ14803;NET31 OTTHUMP00000212341;OTTHUMP00000212344;OTTHUMP00000212345;transmembrane protein 209 protein-coding ENSG00000146842 21898 07871 VALIDATED 2293900 TMEM213 transmembrane protein 213 7 7 7 q34 133220547 133228575 + 138133279 138141309 + 138482739 138490769 + 6480464 16344560;14702039;12477932 155006 A2RRL7 AACC02000025;ABBA01001179;AC018663;AI672404;AK055760;AK055841;AMYH01017973;AW771283;BC058028;BC131697;CH236950;CH471070;DA626421;NM_001085429 A2RRL7;AAI31698;EAL24042;EAW83898;NP_001078898 Hs.567729 5037552;5118576 D11S3430;D8S2279 OTTHUMP00000211647;OTTHUMP00000225375;transmembrane protein 213 protein-coding ENSG00000214128 27220 VALIDATED 1602714 TMEM216 transmembrane protein 216 This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010] 11 11 11 q13.1 58495354 58501845 + 60916441 60922899 + 61159832 61166335 + 6480464;7240710 12477932;11042152;16169070;19322201;8889549;9758620;20036350;20512146;12908130;12917796;21068128;22282472;20301500 51259 J3QT25;Q9P0N5 AA022661;ABBA01003199;AF151078;AI434503;AK303687;AMYH01003678;AP003108;BC011010;BG759319;CH471076;CR457166;DN998400;NG_032976;NM_001173990;NM_001173991;NM_016499 AAF36164;AAH11010;BAH14017;CAG33447;EAW73944;NP_001167461;NP_001167462;NP_057583;Q9P0N5 Hs.26745 1336452;2129956;2141571;2167301;2167303;2168510;7183805;7186270 A004X06;A006Z26;D11S1313;D11S2319E;D11S906;D11S911;RH12213;WI-22101 CORS2;HSPC244;JBTS2;JBTSB;MGC13379;MKS2 HSPC244;Meckel syndrome, type 2;OTTHUMP00000238092;cerebello-oculo-renal syndrome 2;transmembrane protein 216 APPROVED protein-coding ENSG00000187049 25018 14439 603194;608091;613277 REVIEWED 7175174 TMEM220-AS1 TMEM220 antisense RNA 1 p13.1-p12 16344560 101101775 AC002347;AC015908;BQ694074;BQ694934;DA035282;DA190285;DA747858;DA867863;NR_073455;NR_073456;NR_073457;NR_073458 Hs.569782;Hs.627844 miscrna ENSG00000263523 44357 VALIDATED 1606543 TMEM214 transmembrane protein 214 2 2 2 p23.3 27102121 27110909 + 27109278 27118069 + 27255774 27264565 + 6480464 15231747;14702039;12477932;21139048;21890473;21906983;21963094;23000965;23661706 54867 H7BZI0;H7C008;H7C085;H7C0H8;Q8WZ37 AA460659;ABBA01045192;AC013472;AF289555;AK000261;AK074981;AK097001;AK097308;AK296575;AK297150;AK315359;AL833725;AL834157;AMYH01010194;BC002467;BC068479;CF994632;CH471053;CQ834796;NM_001083590;NM_017727 AAH02467;AAH68479;AAL55739;AAY14654;BAA91038;BAC11331;BAG37754;BAG53451;BAG59195;BAG59649;CAD38863;CAH05613;CAH10591;EAX00654;EAX00655;EAX00656;EAX00657;EAX00658;EAX00659;NP_001077059;NP_060197;Q6NUQ4 Hs.533934 1667870;1683134 RH98719;WI-11296 FLJ20254;FLJ39682 OTTHUMP00000200917;OTTHUMP00000200918;OTTHUMP00000200919;transmembrane protein 214 protein-coding ENSG00000119777 25983 07887 VALIDATED 2293899 TMEM218 transmembrane protein 218 11 11 11 q24.2 122126435 122133242 - 124471608 124478415 - 124964266 124981659 - 6480464 14702039;12477932;16344560 219854 A2RU14;B7ZM54;E9PI23;E9PL96;E9PQM6 AA459752;AA781367;ABBA01031248;AI680968;AK091324;AL833215;AMYH01004104;AP001007;BC132716;BC132718;BC144270;BC144276;BC144277;BE513148;BE974033;BI192743;BI547955;BI829527;BI856825;BM042315;BM928068;BQ223298;BQ225039;BQ420663;BQ653243;BQ681518;BU160644;BU598207;BU855096;BX094574;CH471065;CX870447;DA774499;DA899308;DB194956;NM_001080546;NM_001258238;NM_001258239;NM_001258240;NM_001258241;NM_001258242;NM_001258243;NM_001258244;NM_001258245;NM_001258246;NM_001258247;NR_047586;NR_047587;NR_047588;NR_047589;NR_047590;NR_047591;NR_047592 A2RU14;AAI32717;AAI32719;AAI44271;AAI44277;AAI44278;ADR82806;EAW67624;EAW67625;NP_001074015;NP_001245167;NP_001245168;NP_001245169;NP_001245170;NP_001245171;NP_001245172;NP_001245173;NP_001245174;NP_001245175;NP_001245176 Hs.731899;Hs.7626 1688612;1853832;2148967;2167533 RH105;RH69237;RH70500;RH99287 DKFZp667A247 OTTHUMP00000231404;OTTHUMP00000231405;OTTHUMP00000231410;OTTHUMP00000231413;transmembrane protein 218 protein-coding 27344 VALIDATED 1605235 TMEM225 transmembrane protein 225 11 11 11 q24.1 120913041 120915748 - 123258843 123261550 - 123753633 123756340 - 6480464 23362303;19389623 338661 E9PLT9;Q6GV28 ABBA01031265;AMYH01004102;AP002407;AY634366;CH471065;NM_001013743 AAT47557;EAW67557;EAW67558;EAW67559;NP_001013765;Q6GV28 Hs.98377 1690328;1698044 RH102553;RH93164 PMP22CD OTTHUMP00000231611;OTTHUMP00000231612;PMP22 claudin domain containing;PMP22 claudin domain-containing protein;transmembrane protein 225 protein-coding ENSG00000204300 32390 18492 PROVISIONAL 1604542 TMEM219 transmembrane protein 219 16 16 16 p11.2 72811353 72823536 - 29880852 29891874 + 29973351 29984373 + 6480464 12477932;20353938 124446 H3BML8;I3L2J7;I3L2P0;I3L4B3;Q86XT9;R4GNJ4 ABBA01013110;AC093512;AC120114;AMYH01007497;BC017488;BC031217;BC050051;BF724791;BU857546;CF453990;CH471238;DB506492;FJ748884;NM_001083613;NM_194280 AAH17488;AAH50051;ACQ72822;EAW79966;EAW79967;EAW79968;NP_001077082;NP_919256;Q86XT9 Hs.460574 IGFBP-3R insulin-like growth factor binding protein-3 receptor;insulin-like growth factor-binding protein 3 receptor;transmembrane protein 219 protein-coding ENSG00000149932 25201 18546 VALIDATED 1343464 TMEM217 transmembrane protein 217 6 6 6 p21.2 38735024 38780955 - 37287935 37333350 - 37179954 37225931 - 6480464 19204726;15489334;14702039;14574404;12477932;221468;23092984 221468 Q8N0U3;Q8N7C4 ABBA01038278;ABBA01038279;ABBA01038280;AK098666;AL353579;AMYH01016281;AMYH01016282;AW137001;BC009625;BC026012;BC029657;BG285024;CH471081;DB458508;NM_001162900;NM_145316 AAH26012;AAH29657;ADZ15849;BAC05371;EAX03936;EAX03937;NP_001156372;NP_660359;Q8N7C4 Hs.520101 1668502;1694202;2161625;5020948;5109281 AL035195;D1S1425;G35510;RH36467;STS-AA004224 C6orf128;dJ355M6.2 OTTHUMP00000216625;transmembrane protein 217 protein-coding ENSG00000172738 21238 12848 VALIDATED 1604450 TMEM220 transmembrane protein 220 17 17 17 p13.1 10647493 10664502 - 10557364 10574371 - 10616639 10633646 - 6480464 12477932 388335 J3KSH5;J3KSZ3;J3QRF6;Q6QAJ8 ABBA01054979;AC002347;AK289624;AMYH01008107;AY550194;BC127705;BC136838;BC136840;CH471108;EF126147;NM_001004313 AAI27706;AAI36839;AAI36841;AAS57719;ABL75442;BAF82313;EAW89993;EAW89994;NP_001004313;Q6QAJ8 Hs.462230 2152184 RH65113 transmembrane protein 220 protein-coding ENSG00000187824 33757 17371 PROVISIONAL 2307389 TMEM221 transmembrane protein 221 19 19 19 p13.11 17448072 17461124 - 17408267 17420493 - 17546318 17559376 - 6480464 15057824;12477932;16368877 100130519 A6NGB7 ABBA01051200;ABBA01051201;ABBA01051202;AC010319;AMYH01009573;BC039402;BY797043;NM_001190844 A6NGB7;NP_001177773 Hs.436603 2165330 RH78467 Putative transmembrane protein ENSP00000342162;transmembrane protein 221 protein-coding ENSG00000188051 21943 VALIDATED 2303656 TMEM223 transmembrane protein 223 11 11 11 q12.3 59886371 59888070 - 62314363 62316062 - 62557787 62559486 - 6480464 17567985;12477932;8889548;20877624;21139048;21890473 79064 A0PJW6;G5EA27;H0YCK4 ABBA01003246;AMYH01003691;AP001160;BC008643;BC020914;BC035565;BC042801;BC071957;BC094837;BC127679;BP872883;BU684551;CH471076;NM_001080501 A0PJW6;AAH08643;AAH20914;AAH42801;AAH94837;AAI27680;EAW74102;NP_001073970 Hs.530463 1774944;1847697;2129935;2174446;2174448 A002C37;G19937;RH46572;SHGC-31800;WI-19608 MGC3196 OTTHUMP00000236504;transmembrane protein 223 protein-coding 28464 VALIDATED 3102903 TMEM229A transmembrane protein 229A 7 7 7 q31.32 118474746 118477299 - 123459151 123460349 - 123670970 123673523 - 6480464 12477932;12690205;8889548 730130 B2RXF0 AA065302;AACC02000001;ABBA01057724;AC004690;AMYH01017905;BC157828;BU741231;CH236947;NM_001136002 AAI57829;B2RXF0;EAL24328;NP_001129474 Hs.450249 1652586 RH66118 MGC189723 OTTHUMP00000227882;transmembrane protein 229A protein-coding ENSG00000234224 37279 VALIDATED 2923596 TMEM233 transmembrane protein 233 12 12 12 q24.23 119664354 119712412 + 118515647 118563001 + 120031264 120079363 + 20379614;21890473 387890 B4DJY2 ABBA01020075;ABBA01020076;AC002070;AC002563;AK296289;AMYH01004791;NM_001136534 B4DJY2;BAG58994;NP_001130006 Hs.530965 2155450 G15655 DSPB2;IFITMD2 OTTHUMP00000239789;dispanin subfamily B member 2;interferon induced transmembrane protein domain containing 2;interferon-induced transmembrane domain-containing protein D2;transmembrane protein 233 protein-coding ENSG00000224982 37219 PROVISIONAL 1604776 TMEM222 transmembrane protein 222 1 1 1 p36.11 26045825 26060080 + 27521223 27535478 + 27648636 27662891 + 6480464 15342556;14667819;16710414;15489334;14702039;12477932;11230166;8125298;16169070;21906983 84065 H0Y861;H0Y870;H0Y8D0;H7C4N1;H7C5C5;Q5SSC2;Q9H0R3 ABBA01034969;AF251699;AK095889;AK123218;AK222642;AK303821;AK307077;AK313110;AL136683;AL663123;AMYH01000422;BC011579;BC090039;BP326836;BQ927627;BX394857;CH471059;DC424669;NM_032125;NR_037576;NR_037577;NR_037580 AAH11579;AAH90039;AAL99388;ACE86432;ACE87107;BAD96362;BAG35932;BAG64769;CAB66618;EAX07763;EAX07764;EAX07765;EAX07766;EAX07767;EAX07768;NP_115501;Q9H0R3 Hs.469171 1698766;1763329 RH102946;SHGC-147056 C1orf160;DKFZP564D0478;MGC111002;RP11-4K3__A.4 OTTHUMP00000004634;OTTHUMP00000004636;OTTHUMP00000004637;OTTHUMP00000197260;transmembrane protein 222 protein-coding ENSG00000186501 25363 13167 VALIDATED 3008206 TMEM231 transmembrane protein 231 This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] 16 16 16 q23.1 59866319 59884472 - 74129516 74147671 - 75572015 75590170 - 6480464 12477932;12975309;14702039;16344560;22179047;23012439;20301500 79583 H3BMW7;H3BPY4;H3BRT5;H3BTN6;Q9H6L2 ABBA01017057;AC009163;AC025287;AK025820;AK057689;AK096650;AK290483;AK298994;AK307263;AMYH01007821;AY358612;BC010609;BC016401;BC063677;BM973146;BU173659;CH471114;DA498255;DB082071;DC330418;NG_033109;NM_001077416;NM_001077418;NM_001077419;NR_074083 AAH10609;AAH16401;AAH63677;AAQ88975;BAB15244;BAF83172;BAG53347;BAH12919;EAW95632;EAW95633;EAW95634;NP_001070884;NP_001070886;NP_001070887;Q9H6L2 Hs.156784 1705152;2170050;2171287;2176133;2176135;5023364 A005X09;D16S3189;G20564;RH15634;RH68374;SHGC-80010 ALYE870;FLJ22167;JBTS20;PRO1886 transmembrane protein 231 protein-coding ENSG00000205084 37234 614949;614970 REVIEWED 1348278 TMEM229B transmembrane protein 229B 14 14 14 q24.1 47996017 48041084 - 67006736 67051774 - 67936983 67982021 - 6480464 15489334;14702039;12477932;22359512;23251661 161145 G3V2T8;G3V4W3;G3V528;G3V5K9;Q8NBD8 ABBA01023709;ABBA01023710;AK056646;AK074690;AK090706;AL132640;AL139785;AMYH01005814;BC104940;BC104942;CH471061;NM_182526 AAI04941;AAI04943;BAC03507;EAW80938;EAW80939;NP_872332;Q8NBD8 Hs.509707 1736416;1789246;1856651;2146169 D14S676E;D14S838;G35939;G65623 C14orf83;FLJ33387 OTTHUMP00000245702;OTTHUMP00000245703;transmembrane protein 229B APPROVED protein-coding ENSG00000198133 20130 08157 PROVISIONAL 3029048 TMEM232 transmembrane protein 232 5 5 5 q22.1 105701072 106008330 - 109784099 110090288 - 109755197 110062450 - 12477932;14702039;17903294;19584346;20379614;8889548;19913121;20628086;22036096;21628590 642987 C9JQI7;D6RC30;D6REY3;D6RF96;E5RG73 ABBA01069076;ABBA01069077;ABBA01069078;ABBA01069079;AC008650;AC010349;AC012622;AC093538;AC114290;AK125070;AK296542;AMYH01015545;BC042563;BM465182;BM978936;BX648527;CH471086;DC399208;NM_001039763 BAG59166;C9JQI7;EAW49042;NP_001034852 Hs.729154 1340969;1685796;1731393;1747963;1760331;1785344;2152149;2184749 AFM238WC5;D5S134;D5S2501;G66895;RH94309;SHGC-112051;SHGC-141814;STS-N22931 DKFZp686G0585;FLJ35903;FLJ43080 OTTHUMP00000223486;transmembrane protein 232 protein-coding 37270 VALIDATED 4892151 TMEM235 transmembrane protein 235 17 17 17 q25.3 72823419 72833096 + 73739700 73749114 + 76227391 76237068 + 12477932;21689651 283999 A6NFC5;K7EMB0 ABBA01002937;ABBA01002938;AC087645;AMYH01008664;AMYH01008665;BC036810;BC042066;BC148207;BI757060;BI757981;CH471099;NM_001204210;NM_001204211;NM_001204212 A6NFC5;EAW89517;NP_001191139;NP_001191140;NP_001191141 Hs.632228 1341087;1722687 D17S802;G60428 ARGM1 OTTHUMP00000243537;OTTHUMP00000243538;OTTHUMP00000243539;OTTHUMP00000243540;transmembrane protein 235;transmembrane protein ENSP00000364084 APPROVED protein-coding ENSG00000204278 27563 VALIDATED 1606787 TMEM234 transmembrane protein 234 1 1 1 p36.11-p34.2 30951700 30957828 - 32454385 32460513 - 32681798 32687926 - 6480464 12975309;12477932;17207965 56063 B4DHR3;E9PNU5;Q8WY98 ABBA01023436;AF258548;AK075260;AK295232;AK312046;AL049795;AL512700;AMYH01000465;AY358586;BC001256;BC004885;BC038842;CH471059;NM_019118 AAG23751;AAH04885;AAH38842;AAQ88949;ADQ32521;BAC11504;BAG34982;BAG58225;EAX07556;EAX07557;EAX07558;EAX07559;EAX07560;NP_061991;Q8WY98 Hs.272299 1680539;1732858;2161383;5014740;5015619;5015961;5021872;5022322;5024756;5037552 D11S2560;D11S3114;D15S1477;D17S610;D1S1290;D8S2279;RH80030;RH98271;SHGC-74503;sY3084 AASL548;C1orf91;FLJ90779;PRO1105;RP4-622L5;RP4-622L5.3;dJ622L5.7 OTTHUMP00000008485;OTTHUMP00000035920;OTTHUMP00000190847;OTTHUMP00000233195;hypothetical protein LOC56063;transmembrane protein 234 APPROVED protein-coding ENSG00000160055 28837 15270 PROVISIONAL 1316576 TMEM230 transmembrane protein 230 20 20 20 p13 5150515 5163754 - 5028484 5041733 - 5080484 5093733 - 6480464 15489334;14702039;12975309;12477932;11780052;17207965;21048031;16169070;21103663;21139048;21890473;21906983;22505724 29058 Q5JWB9;Q96A57 ABBA01053873;ABBA01053874;AF161392;AK055700;AK309823;AK315606;AL121890;AL121924;AL357536;AMYH01011691;AY359115;BC009768;BC009769;BC009770;BC011990;BC015113;BC066317;BC070212;BC110408;CH471133;NM_001009923;NM_001009924;NM_001009925;NM_014145 AAF28952;AAH09768;AAH09769;AAH09770;AAH11990;AAH15113;AAH70212;AAI10409;AAQ89473;ADQ33136;BAG37975;EAX10431;EAX10432;EAX10433;EAX10434;EAX10435;EAX10436;EAX10437;NP_001009923;NP_001009924;NP_001009925;NP_054864;Q96A57 Hs.472024 1337805;1657295;1669344;1684774;1686418;2162867 D20S583E;D20S895;RH16336;RH27397;SHGC-35090;WI-11626 C20orf30;HSPC274;dJ1116H23.2.1 OTTHUMP00000030179;OTTHUMP00000030181;OTTHUMP00000030182;OTTHUMP00000030183;OTTHUMP00000030184;OTTHUMP00000030185;OTTHUMP00000030186;OTTHUMP00000030187;UPF0414 transmembrane protein C20orf30;hypothetical protein LOC29058;transmembrane protein 230 APPROVED protein-coding ENSG00000089063 15876 12762 VALIDATED 1351617 TMEM241 transmembrane protein 241 18 18 18 q11.2 17691854 17833802 - 19129975 19271923 - 20875977 21017925 - 737633;6480464 12477932 16189514;20546612;23505323;19322201;23027870 85019 B4DH40;E9PJC2;E9PLG4;F5GXY7;H0YDH1;J3QL29;J3QR22;J3QRE6;Q24JQ0 AB253738;AB253739;ABBA01022636;ABBA01022637;ABBA01022638;ABBA01022639;AC011731;AC026634;AK123623;AK126247;AK294916;AK303553;AK314123;AMYH01008886;AMYH01008887;BC006280;BC054507;BC082984;BC114510;BC114561;CH471088;NM_032933 AAH54507;AAI14511;AAI14562;BAC85665;BAC86502;BAG36814;BAG58001;BAG64577;BAM11306;BAM11307;EAX01150;NP_116322;Q24JQ0 Hs.137562 1680553;1691374;1691376;1855912 G42066;G42067;RH69816;RH79735 C18orf45;FLJ44259;MGC11386;MGC138577;hVVT OTTHUMP00000162577;OTTHUMP00000233181;putative vertebrate vrg4-like nucleotide-sugar transporter truncated variant2;putative vertebrate vrg4-like nucleotide-sugar transporter variant1;transmembrane protein 241;transmembrane protein C18orf45 APPROVED protein-coding ENSG00000134490 31723 12692 VALIDATED 5488447 TMEM238 transmembrane protein 238 19 19 q13.42 60582425 60589054 - 55890612 55895627 - 12477932 388564 C9JI98 AC020922;AMYH01009995;AMYH01009996;AMYH01009997;BC052596;NM_001190764 C9JI98;NP_001177693 Hs.534672 hypothetical protein LOC388564;transmembrane protein 238 protein-coding 40042 VALIDATED 1606936 TMEM244 transmembrane protein 244 6 6 6 q22.33 130898776 130928803 - 130194082 130224109 - 130152389 130182416 - 14574404 253582 Q5VVB8 ABBA01025907;AL451046;AMYH01016668;CH471051;NM_001010876 EAW48075;NP_001010876;Q5VVB8 Hs.448372 C6orf191;bA174C7.4 OTTHUMP00000017191;putative transmembrane protein C6orf191;transmembrane protein 244 APPROVED protein-coding ENSG00000203756 21571 16663 VALIDATED 1349731 TMEM236 transmembrane protein 236 10 10 10 p12.33 17727726 17776346 + 17834257 17882873 + 17794251 17842867 + 6480464 15164054;12477932;11181995;14702039;20139978 653567 Q5W0B7 AK056775;AK300456;AL139238;AL928729;BC157856;BX097915;CH471072;NM_001098844;XM_003959929;XM_003960855 AAI57857;BAG62176;CAH70732;EAW86206;NP_001092314;Q5W0B7;XP_003959978;XP_003960904 Hs.564139;Hs.733272 1698060;1755569;1760783;2159124;5022578;5024761;5037552 D1S1423;D8S2279;RH102562;RH36905;RH45650;SHGC-142424;SHGC-144297 FAM23A;FAM23B;FLJ59050;bA162I21.2;bA16O1.2 OTTHUMP00000019242;OTTHUMP00000019244;family with sequence similarity 23, member A;family with sequence similarity 23, member B;hypothetical protein LOC653567;transmembrane protein 236 APPROVED protein-coding ENSG00000148483 23473 VALIDATED 5488169 TMEM239 transmembrane protein 239 20 p13 2796976 2797804 + 12477932;23218918 100288797 D6RAZ5;Q6ZPB1;Q6ZU23;Q8WW34 ABBA01053798;AK126033;AL035460;AL161656;AMYH01011671;BC021178;CH471133;NM_001167670 AAH21178;BAC86404;EAX10573;NP_001161142;Q8WW34 Hs.664180 1772400;5037552 D8S2279;G09802 FLJ26142;FLJ44045 OTTHUMP00000030046;hypothetical protein LOC100288797;transmembrane protein 239;uncharacterized protein LOC100288797 protein-coding ENSG00000198326 40044 VALIDATED 6482527 TMEM247 transmembrane protein 247 2 p21 46706704 46711564 + 15815621 388946 A6NEH6 AA431175;AA432195;ABBA01075137;AC016912;AC018682;AMYH01010315;NM_001145051 A6NEH6;NP_001138523 Hs.733348 transmembrane protein 247;transmembrane protein ENSP00000343375 protein-coding ENSG00000187600 42967 VALIDATED 1603247 TMEM240 transmembrane protein 240 1 1 1 p36.33 1104704 1110285 + 1460602 1465597 - 1470158 1475740 - 11181995;12477932 339453 Q5SV17 ABBA01016052;AL645728;AMYH01000140;AMYH01000141;BC147018;BC147020;BF446167;BU929336;CH471183;EG328560;NM_001114748 AAI47019;AAI47021;EAW56184;EAW56185;NP_001108220;Q5SV17 Hs.668654 1854621;2150645 SHGC-74090;SHGC-74117 C1orf70 OTTHUMP00000039180;transmembrane protein 240;transmembrane protein C1orf70 APPROVED protein-coding 25186 VALIDATED 6484097 TMEM248P1 transmembrane protein 248 pseudogene 1 4 q28.1 126644428 126645372 - 17903303 645841 ABBA01044779;AC105919;AMYH01014505;NG_022036 pseudo 44053 INFERRED 1315474 TMEM237 transmembrane protein 237 The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] 2 2 2 q33.2 196236809 196260126 - 202193152 202216469 - 202484907 202508252 - 1580863;6480464 15815621;15489334;14702039;12477932;11586298;20375344;18482256;15342556;22152675;21906983;20301500;20467438;21963094 65062 F2Z329;F8WE96;Q53TT2 AB053301;ABBA01062545;AC007279;AC007282;AF212043;AK022836;AK090601;AK125841;AK303954;AK304395;AMYH01011404;BC013730;BC029611;BP226834;BQ219059;BX538000;CH471063;NG_032049;NM_001044385;NM_152388 AAH13730;AAH29611;AAL56640;AAY14694;AAY15056;ADZ15358;BAB69011;BAC03487;BAG64880;BAG65230;CAD97955;EAW70281;EAW70282;EAW70283;EAW70284;NP_001037850;NP_689601;Q96Q45 Hs.12319 1655887;1686574;1709454;1728853;1789042;2119307;2138973;2143248 G54442;G65656;RH15616;RH47568;RH68361;RH79761;SHGC-81771;STS-N48800 ALS2CR4;DKFZp313L091;FLJ33282;JBTS14 ALS2CR4 protein, N-terminus truncated;OTTHUMP00000205924;OTTHUMP00000205925;OTTHUMP00000205927;OTTHUMP00000205928;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein;transmembrane protein 237 APPROVED protein-coding ENSG00000155755 14432 12448 614423;614424 REVIEWED 1316281 TMEM246 transmembrane protein 246 9 9 9 q31.1 74751854 74763731 - 103277429 103289296 - 104237608 104249475 - 737633;6480464 12477932 15489334;15164053;21139048;21906983 84302 Q24K26;Q9BRR3 ABBA01042874;AK313981;AL353621;AMYH01021579;BC006115;BC033550;BC113967;CH471105;NM_032342 AAH06115;AAH33550;AAI13968;EAW58953;EAW58954;NP_115718;Q9BRR3 Hs.655738 1705500;1771395;1787146;2178236 G29148;RH18341;SHGC-155775;SHGC-83842 C9orf125;MGC12992 OTTHUMP00000021805;OTTHUMP00000021806;OTTHUMP00000021807;transmembrane protein 246;transmembrane protein C9orf125 APPROVED protein-coding 28180 12940 PROVISIONAL 1349104 TMEM243 transmembrane protein 243, mitochondrial 7 7 7 q21.12 81530357 81553909 - 86663414 86686967 - 86825478 86849031 - 6480464 15556294;15489334;12690205;12477932;20351715;16382445;18510171 79161 C9JY04;Q9BU79 AACC02000015;ABBA01045869;AC005076;AK313794;AMYH01017667;BC002837;BT006973;CH236949;CH471091;NM_024315 AAH02837;AAP35619;BAG36531;EAL24179;EAW76960;EAW76961;NP_077291;Q9BU79 Hs.619593 1654516;2120670;2126082 RH78780;SHGC-64937;STS-T90340 C7orf23;MGC4175;MM-TRAG MDR1 and mitochondrial taxol resistance associated;OTTHUMP00000161396;OTTHUMP00000205314;OTTHUMP00000205316;transmembrane protein 243;transmembrane protein C7orf23 APPROVED protein-coding ENSG00000135185 21707 12911 PROVISIONAL 1316350 TMEM242 transmembrane protein 242 6 6 6 q25.3 158349337 158384390 - 157632661 157665497 - 157710054 157745253 - 6480464 16344560;14702039;12477932;11181995;8889548 729515 Q5T2S1;Q9NWH2 AA704900;ABBA01021118;ABBA01021119;ABBA01021120;ABBA01021121;AF161405;AF217510;AI803082;AK000891;AL390955;AL607068;AMYH01016776;AW663695;AX875619;BC029130;BC146893;BC146895;BE047087;BG055128;BM985312;BX092637;BX099608;BX284653;CD244433;CH471051;CS185616;CT967309;DA368186;DA407942;DA684766;NM_018452 AAF28965;AAF67621;AAH29130;AAI46894;AAI46896;BAA91409;CAE88944;CAJ42797;EAW47676;EAW47677;NP_060922;Q9NWH2 Hs.157212 1653792;1714453;1736274;2133788;2160936;2163986 D12S1230E;D6S1229E;D6S1934;RH119737;RH47385;RH65412 BM033;C6orf35;FLJ10029;MGC34308 OTTHUMP00000017481;OTTHUMP00000017482;UPF0463 transmembrane protein C6orf35;hypothetical protein LOC729515;transmembrane protein 242;uncharacterized bone marrow protein BM033 APPROVED protein-coding 17206 VALIDATED 1626192 TMEM253 transmembrane protein 253 14 14 14 q11.2 1427654 1432447 + 20639343 20641723 + 21567096 21571883 + 8889549 643382 H0YLA3;P0C7T8 AA284798;AA284845;ABBA01061240;AL161668;AMYH01005594;NM_001146683 NP_001140155;P0C7T8 Hs.540107 1680789 RH92583 C14orf176;C14orf95;NCRNA00220 transmembrane protein 253;transmembrane protein C14orf176 APPROVED protein-coding ENSG00000232070 32545 VALIDATED 6767351 TMEM249 transmembrane protein 249 8 q24.3 145576886 145578574 - 12477932 340393 E9PKR6;Q2WGJ8 AA781425;AB196634;ABBA01005210;ABBA01005211;AC233992;AF205589;AI478864;AMYH01019150;AMYH01019151;BC127763;BC127764;BC141966;BC150569;BC150570;BX089061;BX648457;HY019398;NM_001252402;NM_001252404;NM_001280561;NR_047684 BAE53436;NP_001239331;NP_001239333;NP_001267490;Q2WGJ8 Hs.122231 1675786 RH15614 C8ORFK29 putative transmembrane protein C8orfK29;transmembrane protein 249 protein-coding ENSG00000214597 44155 VALIDATED 1353835 TMEM252 transmembrane protein 252 9 9 9 q21.11 41746580 41750867 - 70341316 70345603 - 71151496 71155783 - 737633;6480464 12477932 15164053;15489334 169693 Q8N6L7 ABBA01033793;AL353616;AMYH01021379;BC029780;CH471089;NM_153237 AAH29780;ABM81723;ABM84878;EAW62461;NP_694969;Q8N6L7 Hs.663056 1714609 RH119970 C9orf71;MGC34760;RP11-274B18.1 OTTHUMP00000021420;transmembrane protein 252;transmembrane protein C9orf71 APPROVED protein-coding ENSG00000181778 28537 18569 PROVISIONAL 1602880 TMEM248 transmembrane protein 248 7 7 7 q11.21 65692669 65730006 - 66023638 66060973 + 66386203 66423538 + 6480464 14702039;12690205;12477932;8125298;17207965;22990118;16196087;21139048;21963094;23291589;22505724 55069 C9J3C8;C9JKP5;F8WE75;Q9NWD8 ABBA01048960;ABBA01048961;AC073335;AC079920;AK000961;AK023152;AK222774;AMYH01017491;BC008675;BC010519;BC012562;BC022841;BC041764;CH236961;CH471140;NM_017994 AAH08675;AAH10519;AAH12562;AAH41764;ADQ33145;ADZ15805;BAA91444;BAD96494;EAL23731;EAX07907;EAX07908;EAX07909;NP_060464;Q9NWD8 Hs.488478 1665676;1790171;1852418;1853939;2114826;2166501 D7S2073E;D7S2304;D7S3250;GDB:1318718;RH79187;STS-N32551 C7orf42;FLJ10099;FLJ13090 OTTHUMP00000159952;OTTHUMP00000210991;UPF0458 protein C7orf42;hypothetical protein LOC55069;transmembrane protein 248 APPROVED protein-coding ENSG00000106609 25476 08541 VALIDATED 7094515 TMEM254-AS1 TMEM254 antisense RNA 1 10 q23.1 81805989 81838949 - 6480464 14702039;16344560 219347 ABBA01003812;ABBA01003813;ABBA01003814;AK021673;AK096758;AK308811;AK309654;AK310182;AK310261;AL356095;AMYH01002881;AMYH01002882;BC028046;BX094741;CH471142;DA178657;DB060417;NR_027428;NR_027429;NR_027430;NR_027431;NR_027432 EAW80415 Hs.524453 1712917;2167993 RH121094;RH46084 miscrna 27340 VALIDATED 1319034 TMEM245 transmembrane protein 245 9 9 9 q31 82276614 82381435 - 110817236 110922046 - 111777415 111882225 - 6480464 10564813;16341674;15489334;15342556;15164053;14702039;12477932;21130836;21906983;23382809 23731 F8WBJ7;H7C0G1;Q9H330 AA465408;ABBA01042772;ABBA01042773;ABBA01042774;AF086175;AF153415;AK074248;AK090543;AK095537;AK172815;AK299952;AL354797;AL358815;AL556162;AL669894;AL833960;AMYH01021618;AMYH01021619;AMYH01021620;BC014248;BE675782;BM817899;BP351493;BP360669;CH471105;CX865814;DC341553;NM_032012 AAG43365;AAH14248;BAD18785;BAG61779;CAD38810;EAW59038;EAW59039;NP_114401;Q9H330 Hs.308074;Hs.621479 1664682;1769401;1769856;1772757;1847675;1847834;2120650;2123312;2152125;2163362;2177054 A004G45;A004X14;A006Q03;D9S1926;G29672;RH16318;RH18174;RH65051;SHGC-57492;STS-W44790;WI-20799 C9orf5;CG-2;CG2;FLJ23668;FLJ33224 OTTHUMP00000021880;OTTHUMP00000215869;protein CG-2;transmembrane protein 245;transmembrane protein C9orf5 APPROVED protein-coding ENSG00000106771 1363 09866 VALIDATED 7240964 TMEM256P1 transmembrane protein 256 pseudogene 1 645269 ABBA01005150;AC016821;AMYH01002807;NG_028106 pseudo 45087 INFERRED 1313865 TMEM254 transmembrane protein 254 10 10 10 q22.3 75829384 75843265 + 81828406 81842286 + 81838402 81852307 + 737633;6480464 12477932 15489334;15252450;15164054;14702039;8125298;16385451;19805454;23144326 80195 B4DU43;H0Y376;H0Y4Q8;Q8TBM7 ABBA01003811;ABBA01003812;AK023325;AK222536;AK300490;AK309425;AK309980;AK310160;AK311563;AL356095;AL832397;AL832483;AMYH01002882;BC022252;BP204746;BP293793;BX537803;CH471142;CR457310;CS488903;CX756014;DA263618;DA520338;DA573956;DA880596;DA930892;DB485367;DQ786319;NM_001270367;NM_001270368;NM_001270369;NM_001270370;NM_001270371;NM_001270372;NM_001270373;NM_001270374;NM_025125;NR_072984;NR_072985;NR_072986;NR_072987 AAH22252;BAB14528;BAD96256;BAG62205;CAG33591;CAM55977;EAW80409;EAW80410;EAW80411;EAW80412;EAW80413;EAW80414;NP_001257296;NP_001257297;NP_001257298;NP_001257299;NP_001257300;NP_001257301;NP_001257302;NP_001257303;NP_079401;Q8TBM7 Hs.169982 1684128;1852384;2131793;2183134;5106430 RH98939;SHGC-53357;STS-N35038;WI-21569;WI-22546 C10orf57;FLJ13263;RP11-369J21.6;bA369J21.6 OTTHUMP00000019950;OTTHUMP00000019951;OTTHUMP00000019952;OTTHUMP00000019954;transmembrane protein 254;transmembrane protein C10orf57 APPROVED protein-coding ENSG00000133678 25804 08501 VALIDATED 1349199 TMEM251 transmembrane protein 251 14 14 14 q32.12 73705303 73707438 + 92721049 92723184 + 93651296 93653431 + 6480464 15489334;12477932 26175 Q8N6I4 ABBA01030436;AL080118;AL110118;AMYH01005965;AW404266;BC030119;BP398505;CH471061;CX785861;NM_001098621;NM_015676 AAH30119;CAB45717;EAW81517;EAW81518;NP_001092091;NP_056491;Q8N6I4 Hs.275352 2186834 D14S1115 C14orf109;DKFZp564F1123 OTTHUMP00000245671;OTTHUMP00000245672;UPF0694 transmembrane protein C14orf109;hypothetical protein LOC26175;transmembrane protein 251 APPROVED protein-coding ENSG00000153485 20218 PROVISIONAL 1350182 TMEM25 transmembrane protein 25 11 11 11 q23.3 115562597 115578107 + 117907134 117911760 + 118401803 118417313 + 6480464 16303743;15489334;15340161;15254712;14702039;12975309;12477932;8125298;19776672;17549794;16713569 84866 E9PI73;E9PID6;E9PIE6;E9PIR4;E9PIT4;E9PK43;E9PK88;E9PKP3;F5H294;H0YC87;H0YD63;Q8NBL5 ABBA01039705;ABBA01039706;AK027305;AK056325;AK075437;AK096260;AK124814;AK225415;AK292359;AK293670;AK297255;AMYH01004071;AP000941;AY358919;BC036433;BC042896;BC051841;BF513120;CH471065;EF445037;NM_001144034;NM_001144035;NM_001144036;NM_001144037;NM_001144038;NM_032780 AAH42896;AAH51841;AAQ89278;ACA06084;ACA06085;ACA06086;ACA06087;BAB55029;BAB71151;BAC11620;BAF85048;BAH11564;BAH12530;EAW67388;EAW67389;EAW67390;EAW67391;EAW67392;EAW67393;NP_001137506;NP_001137507;NP_001137508;NP_001137509;NP_001137510;NP_116169;Q86YD3 Hs.564188 1671633;1676272;1733198;1736182;1737611;2118821;2134037;2154367 A003N23;D11S1954E;D11S2305E;D11S3207;RH91715;SHGC-32106;WI-12265;WI-16160 FLJ14399 0610039J01Rik;OTTHUMP00000232658;OTTHUMP00000232659;OTTHUMP00000232667;OTTHUMP00000232668;OTTHUMP00000232670;OTTHUMP00000232672;OTTHUMP00000232674;OTTHUMP00000232825;transmembrane protein 25 protein-coding ENSG00000149582 25890 11635 613934 VALIDATED 1319527 TMEM26 transmembrane protein 26 10 10 10 q21.2 56433398 56480207 - 62836414 62883214 - 63166401 63213208 - 737633;6480464 12477932 15489334;14702039;16385451;19430483;22986903;23006423 219623 H7BXI3;Q6ZUK4 ABBA01019475;AC068892;AK124367;AK125611;AL356952;AMYH01002769;AMYH01002770;BC042872;CH471083;CR749606;NM_178505 AAH42872;BAC86218;CAH18401;EAW54219;EAW54220;NP_848600;Q6ZUK4 Hs.623955 DKFZp686D09128;MGC35010 OTTHUMP00000217461;OTTHUMP00000217462;transmembrane protein 26 protein-coding ENSG00000196932 28550 15534 VALIDATED 1606934 TMEM256 transmembrane protein 256 17 17 17 p13.1 7332169 7333291 - 7247018 7248142 - 7306293 7307450 - 6480464 12477932;16169070;16341674;16712791;21103663;22939629;21139048 254863 K7ERL9;Q8N2U0 ABBA01054864;AC113189;AMYH01008079;AMYH01008080;BC030270;BM749297;CB140450;CH471108;EB386328;NM_152766 AAH30270;EAW90201;NP_689979;Q8N2U0 Hs.730789 1680563;1855881;2137076 RH40266;RH46979;WI-18431 C17orf61;MGC40107 OTTHUMP00000163817;UPF0451 protein C17orf61;hypothetical protein LOC254863;transmembrane protein 256 APPROVED protein-coding ENSG00000205544 28618 17548 VALIDATED 1602045 TMEM255B transmembrane protein 255B 13 13 q34 113599044 113651873 - 114462216 114514899 + 6480464 15489334;15057823;12477932;23382691 348013 Q5TZJ2;Q8WV15 ABBA01015949;ABBA01015950;ABBA01015951;ABBA01015952;ABBA01015953;AC187648;AK295653;AMYH01005404;AMYH01005405;BC018995;BX072579;BX088578;CH471085;NM_182614 AAH18995;ACE86459;ACE87140;BAG58520;EAX09225;NP_872420;Q8WV15 Hs.280805 1757725;1765013;5128003 SHGC-146361;SHGC-148563;SHGC-153433 FAM70B;FLJ57938;MGC20579;RP11-199F6.1 OTTHUMP00000216423;family with sequence similarity 70, member B;protein FAM70B;transmembrane protein 255B APPROVED protein-coding ENSG00000184497 28297 14474 PROVISIONAL 1605993 TMEM255A transmembrane protein 255A X X X q24 119858090 119910982 - 119276533 119329419 - 119392505 119445391 - 6480464 16344560;15772651;15489334;14702039;12477932;21832049 55026 E5RFR0;Q5JRV8;Q7Z4S8 ABBA01049605;ABBA01049606;ABBA01049607;ABBA01049608;ABBA01049609;ABBA01049610;ABBA01049611;ABBA01049612;ABBA01049613;ABBA01049614;AC002086;AF450484;AK000723;AK056403;AK289684;AL512286;AMYH01022916;AMYH01022917;AMYH01022918;BC047054;CH471107;DA758358;DB165640;NM_001104544;NM_001104545;NM_017938 AAH47054;AAP97678;BAA91341;BAF82373;BAG51698;EAX11887;EAX11888;EAX11889;EAX11890;NP_001098014;NP_001098015;NP_060408;Q5JRV8 Hs.437563 1648724;1675682;1852732;2122884;2149543;2150134;2183331;2220298 AB056807;AL008910;AL008936;AL031105;DXS8292;RH47097;RH78409;SHGC-30611 FAM70A;FLJ20716;RP3-525N14.6 OTTHUMP00000023936;OTTHUMP00000023937;OTTHUMP00000226587;family with sequence similarity 70, member A;hypothetical protein LOC55026;protein FAM70A;transmembrane protein 255A APPROVED protein-coding ENSG00000125355 26086 06535 VALIDATED 1352055 TMEM257 transmembrane protein 257 This intronless gene is expressed in the hippocampus and maps close to a candidate region for several X-linked mental retardation (XLMR) syndromes. It is conserved in primates, cow, and horse, but not found in mouse and rat. The exact function of this gene is not known, but on the basis of its physical location and expression pattern, it is proposed to have an important function in the brain. [provided by RefSeq, Jan 2010] X X X q27.3 145221283 145223729 + 144716620 144719066 + 144908928 144911374 + 6480464 15772651;15489334;12477932;9881668;9110174;8619474 9142 O96002 ABBA01054370;AF007148;AL109653;AL134413;AMYH01023157;BC113600;BC113604;CH471175;NG_016553;NM_004709;Y08902;Y10607 AAI13601;AAI13605;ADR83470;CAA70110;CAA71614;EAW53956;NP_004700;O96002 Hs.106688 1644951;1653012;1662813;2114918;2220444 DXS7004E;RH18200;RH77732;UniSTS:482415;WI-20478 CXorf1;MGC142160;MGC142164 OTTHUMP00000215976;hypothetical protein LOC9142;transmembrane protein 257;uncharacterized protein CXorf1 APPROVED protein-coding ENSG00000221870 2562 06477 300565 VALIDATED 1349126 TMEM30C transmembrane protein 30C 3 3 3 q12.1 98295272 98303634 + 101387221 101395784 + 99904668 99913030 + 17258408;15375526 644444 A0ZSE6;H7C5D7 AB249666;AB250297;ABBA01061795;AC129803;AMYH01013357;NR_028357;NR_028358 A0ZSE6;BAF41210 Hs.652353 CDC50C pseudo ENSG00000235156 30443 611030 PROVISIONAL 1346804 TMEM31 transmembrane protein 31 X X X q22.2 103404837 103407960 + 102852493 102855616 + 102965837 102968960 + 737633;6480464 12477932 203562 Q5JXX7 ABBA01032873;AK130867;AL049610;AMYH01022798;BC029575;CH471190;CS072437;HC007344;NG_021199;NM_182541 AAH29575;ABM82440;ABM85631;CAI93575;CBH19477;EAW54696;NP_872347;Q5JXX7 Hs.98843 1772733 RH46065 FLJ27357;MGC39655 OTTHUMP00000023759;transmembrane protein 31 protein-coding ENSG00000179363 28601 06652 VALIDATED 1354044 TMEM27 transmembrane protein 27 This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013] X X X p22 19760931 19798641 - 15555372 15593075 - 15645441 15683154 - 1299472;737633;1580863;6480464 11278314;12477932 17693757;16330323;15489334;12975309;22628310;20386877;19417552;19582483;19763395;18424768;21907142;21947380;21988832;22790173;21814048 57393 Q9HBJ8 ABBA01071327;ABBA01071328;ABBA01071329;ABBA01071330;ABBA01071331;ABBA01071332;ABBA01071333;AC003669;AC112497;AF229179;AI470468;AK313835;AMYH01022107;AMYH01022108;AY359060;BC014317;BC015099;BC050606;CH471074;NG_015970;NM_020665 AAG09466;AAH14317;AAH15099;AAH50606;AAQ89419;BAG36568;EAW98894;NP_065716;Q9HBJ8 Hs.129614 1732315;2121867;7184838;7185909 CHLC.GGAT16F07;DXS197 NX-17;NX17 0610008J07Rik;OTTHUMP00000022967;collectrin;kidney-specific membrane protein APPROVED protein-coding ENSG00000147003 29437 06668 300631 REVIEWED 1351820 TMEM258 transmembrane protein 258 11 11 11 q12.2 58892014 58895497 - 61313181 61316661 - 61556602 61560085 - 6480464 15489334;12665801;12477932;12427278;11042152;22916037;20694148;19913121;20562440;20628086;21102463;21139048;21829377;22359512;23362303 746 F5GWH5;F5H7Z5;P61165 ABBA01003206;AF070661;AF085986;AF086763;AK291683;AMYH01003683;AP002380;BC002750;BC015968;CH471076;CS488918;CS488982;NM_014206 AAD20967;AAF28401;AAH02750;AAH15968;BAF84372;CAM55992;CAM56011;EAW73970;EAW73971;NP_055021;P61165 Hs.437779 5493900 1810006K21Rik C11orf10 OTTHUMP00000238170;OTTHUMP00000238173;UPF0197 transmembrane protein C11orf10;hypothetical protein LOC746;protein NEF1;transmembrane protein 258 APPROVED protein-coding ENSG00000134825 1164 12602 VALIDATED 1322435 TMEM259 transmembrane protein 259 19 19 19 p13.3 941988 953479 - 960650 972141 - 1009650 1021141 - 6480464 16084606;15489334;15057824;14702039;12638133;12477932;16169070;21139048;21903422;21906983 91304 B3KTL0;K7EQ94;Q4ZIN3 ABBA01002617;AC004528;AK090400;AK095756;AMYH01009219;AY140906;BC008957;BQ895919;CH471139;DQ005958;NM_001033026;NM_033420 AAC12681;AAH08957;AAN25597;AAY27747;ABM84150;ABM87553;BAC03381;BAG53122;EAW69571;EAW69572;EAW69573;EAW69574;EAW69575;NP_001028198;NP_219488;Q4ZIN3 Hs.515003 1684222;1792580;1792588;2171945 PMC154217P1;PMC154217P5;RH91192;SGC32341 ASBABP1;C19orf6;MBRL;MEMBRALIN;MGC4022;R32184_3 aspecific BCL2 ARE-binding protein 1;membralin APPROVED protein-coding ENSG00000182087 17039 12710 611011 VALIDATED 1353146 TMEM33 transmembrane protein 33 4 4 4 p13 42381148 42406836 + 41631926 41652580 + 41937137 41962824 + 737633;1580863;6480464 12477932 17353931;17081065;15489334;14702039;17215244;19615732;17207965;16196087;18781797;21987572;22178446;21139048;21890473;21906983 55161 D6RAA6;D6RBY2;H0Y8N0;J3KN43;P57088 ABBA01014277;AC106052;AC108210;AF403224;AK001387;AK023062;AK024587;AK056974;AK094190;AK308501;AMYH01014133;AY659966;BC000948;BC014384;CH471069;CR457260;NM_018126 AAH00948;AAH14384;AAV70491;ADQ31644;BAA91665;BAB14384;BAG52840;CAG33541;EAW92991;EAW92992;EAW92993;EAW92994;NP_060596;P57088 Hs.31082 1710866;1797080;2117618;5020635;5022651;5037552 AW629743;D11S2921;D7S3207;D8S2279;SHGC-67902;SHGC-84211 1600019D15Rik;FLJ10525;SHINC3 OTTHUMP00000125225;OTTHUMP00000218395;OTTHUMP00000218396;OTTHUMP00000218397;transmembrane protein 33 protein-coding ENSG00000109133 25541 07680 VALIDATED 1606154 TMEM37 transmembrane protein 37 2 2 2 q14.2 113515569 113522221 + 119905916 119912566 + 120189446 120196096 + 6480464 12477932;11738816;10734232;22632162 140738 C9J1Q8;E7EMC0;Q8WXS4 ABBA01045925;AC013275;AF361356;AMYH01010988;BC046362;CH471103;DR003856;DR005637;NM_183240 AAH46362;AAL50051;AAY14740;EAW95217;EAW95218;NP_899063;Q8WXS4 Hs.26216 1684513;2137669 RH69958;RH80535 CACNG5;PR;PR1 OTTHUMP00000203651;neuronal voltage-gated calcium channel gamma-like subunit;voltage-dependent calcium channel gamma subunit-like protein;voltage-dependent calcium channel gamma-like subunit protein-coding ENSG00000171227 18216 15536 VALIDATED 1354503 TMEM260 transmembrane protein 260 14 14 14 q22.3 37095848 37165589 + 56116264 56185986 + 57046511 57116233 + 6480464 15489334;14702039;12477932 54916 B3KN73;F5H7D0;G3V320;G3V4A2;G3V4Y3;H0YJK2;H0YJX9;H0YK00;Q0VAA1;Q9NX78 ABBA01018230;AK000399;AK023885;AK056291;AK293099;AK295989;AK309920;AL161757;AL355103;AMYH01005750;AMYH01005751;BC008949;BC023579;BC045556;BC121163;BC121164;BX647387;CH471061;NM_017799 AAI21164;AAI21165;BAA91139;BAF85788;BAG51235;BAG51667;BAG58764;EAW80691;NP_060269;Q9NX78 Hs.497253 1341188;1652613;1699318;1736410;2117228;2144243;7185499 D14S66;D14S669E;D14S833;RH103246;RH66316;STS-T03865 C14orf101;FLJ20392 OTTHUMP00000179020;UPF0679 protein C14orf101;hypothetical protein LOC54916 APPROVED protein-coding ENSG00000070269 20185 12624 VALIDATED 1318678 TMEM30B transmembrane protein 30B 14 14 14 q23.1 41794372 41798814 - 60813841 60818283 - 61744088 61748530 - 6480464 16344560;15489334;15375526;14702039;12477932;20685720;23251661 161291 Q3MIR4 ABBA01018297;AK091169;AL080078;AL359220;AMYH01005775;BC101726;BC113559;CH471061;DA431345;DA666826;DB220251;DB237714;NM_001017970 AAI01727;AAI13560;BAG52296;EAW80799;NP_001017970;Q3MIR4 Hs.146180 1660658;1675891;5493321 G31464;RH91843;UniSTS:485699 CDC50B;MGC126775 OTTHUMP00000246009;cell cycle control protein 50B protein-coding ENSG00000182107 27254 18567 611029 VALIDATED 1351966 TMEM39B transmembrane protein 39B 1 1 1 p35.1 30808405 30838369 + 32311116 32341052 + 32538503 32568467 + 737633;6480464 12477932 16710414;14702039;11230166;16169070;16196087;21890473 55116 B4DKN8;B4DQE6;B4DTN8;F8WB89;Q5VVU5;Q9BT39;Q9GZU3 ABBA01023440;ABBA01023441;ABBA01023442;ABBA01023443;AK001177;AK023331;AK091861;AK296653;AK298766;AK300293;AL136695;AL445248;AMYH01000465;BC004364;CH471059;CQ834402;CR457311;CR533536;NM_018056 AAH04364;ADZ15841;BAA91535;BAB14530;BAG52431;BAG59250;BAG60908;BAG62050;CAB66630;CAG33592;CAG38567;CAH05416;EAX07570;EAX07571;EAX07572;EAX07573;NP_060526;Q9GZU3 Hs.25544 1771712;2176359;5020948;5109281 D1S1425;G35510;SHGC-74537;WI-17488 FLJ10315;RP11-277A4.3 OTTHUMP00000004146;transmembrane protein 39B protein-coding ENSG00000121775 25510 07662 VALIDATED 1353039 TMEM39A transmembrane protein 39A 3 3 3 q13.33 117558168 117591144 - 120632391 120665161 - 119149701 119182471 - 737633;1580863;6480464 12477932 14702039;21833088;20007504;17207965;19851296;20198315;8125298;21906983;22464253;22194214 55254 C9IYN1;C9JUZ6;C9JYN8;C9K0C7;F8WAU1;H7C5P7;Q9NV64 ABBA01061583;ABBA01061584;ABBA01061585;AC074271;AK001764;AK092064;AK222950;AK223248;AMYH01013418;AMYH01013419;BC003192;BC010070;BC021277;CH471052;CQ834350;NM_018266;NR_073506 AAH03192;AAH21277;ADQ32654;BAA91893;BAD96670;BAD96968;CAH05390;EAW79571;EAW79572;NP_060736;Q9NV64 Hs.594171 1652753;1856619;1857149;2114548;2128383 D3S4255;G30213;SHGC-77219;SHGC-77244;SHGC-77252 FLJ10902 OTTHUMP00000215061;transmembrane protein 39A protein-coding 25600 07713 VALIDATED 1351909 TMEM38A transmembrane protein 38A 19 19 19 p13.11 16673777 16701673 + 16632938 16660830 + 16771938 16799830 + 737633;1580863;6480464 12477932 15489334;14702039;19095005;19913121;20628086;17611541 79041 M0QYB6;Q9H6F2 ABBA01051153;AC008737;AC024075;AK025981;AK292764;AMYH01009564;BC001195;CH471106;NM_024074 AAH01195;BAB15307;BAF85453;EAW84559;NP_076979;Q9H6F2 Hs.436068 1705096;1756649;2107379 MGC3169__7704;SHGC-143701;SHGC-79965 MGC3169;TRIC-A;TRICA trimeric intracellular cation channel type A protein-coding 28462 15537 611235 PROVISIONAL 1348470 TMEM42 transmembrane protein 42 3 3 3 p21.31 44841374 44845122 + 44878412 44882160 + 44903408 44907156 + 737633;1580863;6480464 12477932 131616 Q69YG0 ABBA01024735;AC098649;AL834253;AMYH01013124;AMYH01013125;BC019851;CH471055;NM_144638 AAH19851;CAH10689;EAW64725;EAW64726;NP_653239;Q69YG0 Hs.646856 2148495 SHGC-76889 MGC29956 OTTHUMP00000164122;transmembrane protein 42 protein-coding ENSG00000169964 28444 15540 PROVISIONAL 1345323 TMEM30A transmembrane protein 30A 6 6 6 q14.1 76356050 76388034 - 76019360 76051212 - 75962638 75994632 - 1580863;6480464 17948906;16344560;15489334;15375526;14702039;14574404;12477932;20510206;17207965;21289302;21454556;21987572;21139048;21890473;21906983;21963094;19322201;22779921;22505724 55754 E5RG19;Q9NV96 AA599967;ABBA01040356;AJ420517;AK001718;AK022883;AK292823;AK293225;AK295567;AL080250;AL162046;AL832490;AL832815;AMYH01016438;BC009006;CH471051;DA217148;DB239737;NM_001143958;NM_018247 AAH09006;ADQ32357;BAA91859;BAF85512;BAG56764;BAG58467;CAB82389;CAH56205;CAH56262;EAW48743;EAW48744;EAW48745;NP_001137430;NP_060717;Q9NV96 Hs.108530 1739659;2139224;2143187;2169418 D6S1531E;HUMHM01G09;RH12901;RH78510 C6orf67;CDC50A;FLJ10856 OTTHUMP00000016751;OTTHUMP00000224702;OTTHUMP00000224746;cell cycle control protein 50A protein-coding ENSG00000112697 16667 15535 611028 VALIDATED 1344878 TMEM44 transmembrane protein 44 3 3 3 q29 192723780 192769496 - 195789691 195835402 - 194308402 194354150 - 737633;6480464 12477932 20031603;21900206 93109 C9IZ85;F8WCY1;F8WE47;H7C3X7;J3KQW3;Q6PL43;Q8IXR1 ABBA01001625;ABBA01001626;AC046143;AI640920;AK126914;AL547748;AL833026;AMYH01013781;AMYH01013782;AY303778;AY597813;BC007772;BC014883;BC034353;BC039506;BC111485;BC130297;BC144158;BC144159;BU521517;BU850042;BX419619;BX647418;CF265142;CH471052;NM_001011655;NM_001166305;NM_001166306;NM_138399 AAH07772;AAH14883;AAH34353;AAI11486;AAI30298;AAI44159;AAI44160;AAP76183;AAT09006;ADR82995;BAC86747;CAH56264;EAW78040;EAW78041;EAW78042;EAW78043;EAW78044;NP_001011655;NP_001159777;NP_001159778;NP_612408;Q2T9K0 Hs.478729 1648650;1681288;1739579;1762701;2184293;5022200 D19S841;L18426;RH47763;RH92518;SHGC-146495;STS-R85813 DKFZp686O18124;MGC131692;MGC163169 OTTHUMP00000209076;OTTHUMP00000209077;OTTHUMP00000209083;OTTHUMP00000209084;OTTHUMP00000214719;transmembrane protein 44 protein-coding ENSG00000145014 25120 14297 VALIDATED 1347417 TMEM38B transmembrane protein 38B This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012] 9 9 9 q31.2 78961966 79042583 + 107496646 107577265 + 108456825 108537444 + 737633;6480464 12477932 19095005;18978678;18464913;14702039;23054245;8889548;22589738;19448620;20800603;21102462;16196087;21139048;21890473;21906983;19322201;23449627;17611541;21963094;23316006;22190034 55151 H7C3B3;H7C4C1;Q9NVV0 ABBA01042813;AK001355;AK309686;AL592437;AL592488;AL627247;AMYH01021602;BC000049;BC031938;BU728078;BX112234;CH471105;CR457258;NG_032971;NM_018112 AAH00049;ADQ32497;BAA91645;CAG33539;EAW59003;EAW59004;NP_060582;Q9NVV0 Hs.411925;Hs.618078 2112126;2150607 D1S2514;D9S2107 C9orf87;D4Ertd89e;FLJ10493;OI14;RP11-219P18.1;TRIC-B;TRICB;bA219P18.1 OTTHUMP00000021849;OTTHUMP00000021850;trimeric intracellular cation channel type B protein-coding 25535 15538 611236;615066 REVIEWED 1345227 TMEM35 transmembrane protein 35 X X X q22.1 100852601 100870122 + 100220519 100238009 + 100333836 100351356 + 6480464 15772651;15489334;14702039;12477932;8889548;8125298;21832049 59353 B4DN33;Q53FP2 ABBA01044939;ABBA01044940;AK024146;AK223240;AK297745;AL109952;AMYH01022725;BC050273;BC078658;BU736545;CH471115;NM_021637 AAH50273;AAH78658;BAB14840;BAD96960;BAG60095;EAX02839;NP_067650;Q53FP2 Hs.45140;Hs.714277 2123382 WI-18417 FLJ14084 OTTHUMP00000023663;transmembrane protein 35 protein-coding ENSG00000126950 25864 06523 VALIDATED 1343546 TMEM40 transmembrane protein 40 3 3 3 p25.2 12713693 12739109 - 12750392 12775808 - 12775392 12800808 - 737633;6480464 12477932 15489334;14702039;12665801;17192395 55287 B4DXI0;C9JID5;H7BZY7;Q8WWA1 ABBA01025191;ABBA01025192;AC034198;AK001898;AK092470;AK301984;AMYH01012987;BC020658;CH471055;NM_018306 AAH20658;BAA91967;BAC03898;BAG63392;EAW64138;EAW64139;EAW64140;NP_060776;Q8WWA1 Hs.475502 FLJ11036 OTTHUMP00000160232;OTTHUMP00000207910;OTTHUMP00000207911;OTTHUMP00000207912;transmembrane protein 40 protein-coding ENSG00000088726 25620 08559 PROVISIONAL 1352042 TMEM41A transmembrane protein 41A 3 3 3 q27.2 183652912 183662367 - 186691478 186699496 - 185207389 185216845 - 737633;6480464 12477932 15489334;15342556;14702039;12975309;21890473 90407 F8WDE2;H7BXL1;Q96HV5 ABBA01058419;AC099661;AK172748;AK290878;AK313954;AL832782;AMYH01013728;AY358547;BC008043;BC019884;BP274550;BX647128;BX647928;CH471052;NM_080652 AAH08043;AAH19884;AAQ88911;ACE86641;ACE87323;BAD18735;BAF83567;EAW78219;EAW78220;EAW78221;EAW78222;EAW78223;NP_542383;Q96HV5 Hs.677570;Hs.692209 1685646;1689949;2107361;2118773;2158664;2177665;2179897;5015619;5037552 D11S3114;D8S2279;MGC15397__7672;RH46339;RH80449;RH93790;SHGC-77628;STS-W72274;WI-21163 2900010K02Rik;DKFZp686N06149;DKFZp686N107;MGC15397 OTTHUMP00000210355;transmembrane protein 41A protein-coding ENSG00000163900 30544 15539 VALIDATED 1348900 TMEM43 transmembrane protein 43 This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008] 3 3 p25.1 14141546 14160180 + 14166440 14185180 + 737633;1579676;6480464;7240710 12477932;10631146 22939629;11256614;18313022;18230648;16381901;16344560;16303743;15489336;14702039;12975309;11593002;11230166;11076863;9860777;8125298;16169070;19863551;20010364;20379614;23106098;21391237;21320693;21214875;22678362;21139048;21890473;22458570;20301310;17110338;21963094;22190034 79188 F8WDL3;Q9BTV4 ABBA01025161;AC090004;AF086408;AK027466;AK027757;AK027827;AK027877;AK074073;AK075010;AK225589;AL136916;AMYH01012996;AY358625;BC003125;BC008054;BC011719;CH471055;DA259919;NG_008975;NM_024334 AAH03125;AAH08054;AAH11719;AAQ88988;BAB55131;BAB55348;BAB55396;BAB55425;BAB84899;BAC11350;CAB66850;CAL38038;EAW64184;EAW64185;EAW64186;EAW64187;NP_077310;Q9BTV4 Hs.517817 1337638;1338596;1662522;1663904;1671229;1686308;1735302;2175580;5109445 D3S1255;D3S2338;D3S2941E;D3S3613;D3S3920;D3S3995;RH26794;SHGC-30498;SHGC-76725 ARVC5;ARVD5;DKFZp586G1919;EDMD7;LUMA;MGC3222 OTTHUMP00000160233;arrhythmogenic right ventricular dysplasia 5;transmembrane protein 43 APPROVED protein-coding ENSG00000170876 28472 15541 604400;612048;614302 REVIEWED 1344791 TMEM45A transmembrane protein 45A 3 3 3 q12.2 98602607 98687498 + 101694153 101778975 + 100211463 100296285 + 737633;6480464 12477932 15489334;14702039;17207965;21963094;22954140;23000965;21987572;21139048;21890473 55076 C9J9Z5;J3KQ06;Q9NWC5 AB013911;ABBA01061788;AC128693;AK000996;AK129789;AMYH01013358;AY450392;BC040355;CH471052;NM_018004 AAH40355;AAR21085;ADQ31583;BAA91458;BAB87801;EAW79819;EAW79820;NP_060474;Q9NWC5 Hs.658956 1680928;1686945;1740247;2112760 D3S3010;D3S4447;RH76527;RH92609 DERP7;FLJ10134 DNA polymerase-transactivated protein 4;OTTHUMP00000197052;OTTHUMP00000197053;dermal papilla derived protein 7;dermal papilla-derived protein 7;transmembrane protein 45A protein-coding ENSG00000181458 25480 07647 PROVISIONAL 1348060 TMEM45B transmembrane protein 45B 11 11 11 q24.3 126853871 126898054 + 129190951 129235108 + 129685741 129729898 + 737633;6480464 12477932 15489334;14702039;19773279;20379614;22238593;22383897;21103663;21988832;23251661 120224 Q96B21 ABBA01023022;AK098106;AK290283;AK292058;AMYH01004125;AP003327;BC016153;CH471065;NM_138788 AAH16153;ACT64573;ACT64574;BAC05235;BAF82972;BAF84747;EAW67747;EAW67748;EAW67749;EAW67750;EAW67751;NP_620143;Q96B21 Hs.504301 1649922;1737297;2168490;2175338;2187668;5022200;5037552 D11S1153;D11S3161;D8S2279;L18426;RH35926;RH48150;SHGC-35184 FLJ40787 OTTHUMP00000230899;OTTHUMP00000230900;transmembrane protein 45B protein-coding ENSG00000151715 25194 14020 PROVISIONAL 1347999 TMEM41B transmembrane protein 41B 11 11 11 p15.4 9423459 9457551 - 9258777 9292872 - 9302201 9336315 - 6480464 12477932;8889549;7584028;7584026;16344560;21139048;21890473;21906983;19322201 440026 E9PJ42;Q5BJD5 ABBA01061193;ABBA01061194;ABBA01061195;ABBA01061196;AC055845;AK303339;AMYH01003380;BC035034;BC044597;BC064366;BC091524;BE673436;BI596931;BI829492;BU752757;CH471064;D26067;DA149513;DR157551;N54391;NM_001165030;NM_015012;NR_028491 AAH35034;AAH44597;AAH91524;BAA05062;BAG64402;EAW68594;EAW68595;EAW68596;EAW68597;EAW68598;NP_001158502;NP_055827;Q5BJD5 Hs.594563 1671762;1680625;1686720;2117015;2122752;2149348;2157462;5015619;5015861;5022651;5024761;5037552;5109281;7185938 D10S16;D11S2268E;D11S2390;D11S2921;D11S3114;D1S1425;D8S2279;RH17400;RH25271;RH36905;RH46487;RH94006;SHGC-53040 KIAA0033;MGC33897;MGC57262 OTTHUMP00000230821;OTTHUMP00000230822;OTTHUMP00000230864;OTTHUMP00000230865;OTTHUMP00000230866;transmembrane protein 41B protein-coding ENSG00000166471 28948 18632 VALIDATED 6892836 TMEM44-AS1 TMEM44 antisense RNA 1 3 q29 194304997 194311561 + 10737800;12477932;16344560;8889548 100507297 ABBA01001626;AC046143;AMYH01013781;BC061632;BE071707;BI088778;BM717338;BU620456;BU741601;DB295401;NR_047573;NR_047574;NR_047575 Hs.586059 1681288;2184293 RH92518;STS-R85813 APPROVED miscrna 44272 VALIDATED 1603246 TMEM52 transmembrane protein 52 1 1 1 p36.33 744314 746025 + 1838890 1840567 - 1849029 1850740 - 6480464 15146197;12975309 339456 B1AKR2;B1AKR3;Q8NDY8;R4GMU3 ABBA01016077;AJ278736;AL109917;AMYH01000160;AW083128;AY358544;CH471183;CN263898;NM_178545 AAQ88908;ACT64393;ACT64394;CAC82104;EAW56142;EAW56143;NP_848640;Q8NDY8 Hs.123423 OTTHUMP00000001118;transmembrane protein 52 protein-coding ENSG00000178821 27916 14166 VALIDATED 1343840 TMEM47 transmembrane protein 47 This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008] X X X p11.4 38772420 38802641 - 34555102 34585326 - 34645181 34675405 - 68668;1580863;6480464 11472633 18056173;11256614;16381901;15772651;15489336;15489334;15345028;14702039;12477932;11230166;11076863;21881001;23412934 83604 Q9BQJ4 ABBA01073400;ABBA01073401;ABBA01073402;AK090917;AK311054;AL049257;AL136550;AL596285;AMYH01022202;BC039242;CH471074;CX788638;NM_031442 AAH39242;CAB66485;CAL37622;EAW99070;EAW99071;NP_113630;Q9BQJ4 Hs.8769 1338098;1672585;1702332;1702462;1716555;1718393;1749605;1751925;1751935;1755367;1781184;1787232;1787242;1787422;1794174;1850821;2069528;2133093;2134205;2137186;2138538;2153561;2158531;2162824;2166381;2171470;2194252 DXS1049;DXS1182;DXS1339;DXS1382;DXS7653;DXS7790;DXS8190;DXS8192;GDB:313823;L77275;PMC310823P13;REN105954;RH121622;RH122971;RH67914;SHGC-105886;SHGC-105900;SHGC-111287;SHGC-112103;SHGC-132877;SHGC-142248;SHGC-54257;SHGC-83503;STS-N41007;STS-T48038;stFSX915;stSG614592 BCMP1;DKFZp564E153;DKFZp761J17121;FLJ18096;MGC32949;TM4SF10 OTTHUMP00000023130;brain cell membrane protein 1;transmembrane 4 superfamily member 10;transmembrane protein 47 APPROVED protein-coding ENSG00000147027 18515 06741 300698 REVIEWED 1319660 TMEM5 transmembrane protein 5 This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] 12 12 12 q14.2 63838644 63867894 + 62459904 62489154 + 64173637 64202887 + 1580863;6480464 10072769;15489334;12477932;20379614;23217329;23519211;21988832 10329 F5GXF8;G3V1K2;Q9Y2B1 AB015633;ABBA01026619;ABBA01026620;AC084357;AI458269;AK289382;AMYH01004541;BC002596;BC013152;BM547839;BX647105;BX647419;CH471054;NG_033244;NM_001278237;NM_014254 AAH02596;AAH13152;ABM82003;ABM85185;BAA76500;BAF82071;EAW97120;EAW97121;NP_001265166;NP_055069;Q9Y2B1 Hs.216386;Hs.716859 1683036;1687263;2151390 RH77947;RH80375;RH98695 HP10481;MDDGA10 OTTHUMP00000239316;putative type II membrane protein;transmembrane protein 5;type II membrane protein protein-coding 13530 12057 605862;615041 REVIEWED 2304154 TMEM51-AS1 TMEM51 antisense RNA 1 1 1 1 p36.21 13921222 13961847 - 15315036 15351547 - 15438311 15478960 - 6480464 16710414;14702039;12477932 200197 ABBA01004718;AK074283;AK124431;AL035405;AMYH01000267;BC128126;BC128127;CH471167;NR_027136 BAB85035;BAG54037;EAW51708;EAW51709 Hs.531424 1686372;1777098 G16265;RH93212 C1orf126;FLJ23703;RP1-21O18.2 APPROVED miscrna 26301 08673 VALIDATED 1606813 TMEM50A transmembrane protein 50A This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 23984779 24008822 - 25537398 25561439 + 25664789 25688852 + 6480464 11256614;16381901;16094384;15489336;15489334;12975309;12477932;11902138;11230166;11076863;10938938;10845894;16169070;21700265;21987572;21906983;22505724 23585 O95807;Q7RU07 ABBA01059930;ABBA01059931;ABBA01059932;AF081282;AF087880;AF458851;AI968279;AK299180;AK311092;AK311355;AK312588;AL136627;AL928711;AMYH01000385;AY071927;AY358650;BC007341;BC066908;BN000065;BX537683;CH471134;CX867650;NM_014313 AAD17754;AAH07341;AAH66908;AAL51108;AAL61545;AAP97180;AAQ89013;BAG35482;BAH12963;CAB66562;CAD29849;CAL37465;CAL37763;CAL37858;EAW95168;EAW95169;NP_055128;O95807 Hs.705699 1658277;1853859;2154369;2180706;5016478;5020740;5037552;5116670 A002S18;D8S2279;GDB:434012;L17809;RH11830;SHGC-74433;WI-18360;sY3122 IFNRC;RP11-335G20.3;SMP1 OTTHUMP00000008981;cervical cancer oncogene 9;small membrane protein 1;transmembrane protein 50A APPROVED protein-coding ENSG00000183726 30590 05636 605348 REVIEWED 1606983 TMEM52B transmembrane protein 52B 12 12 12 p13.2 15492222 15505070 + 10222824 10235670 + 10331557 10344403 + 16344560;14702039;12975309;12477932;19322201 120939 F5H230;Q4KMG9 ABBA01067797;ABBA01067798;AC115676;AK055728;AMYH01004276;AY358845;BC098571;BC131523;BE301029;CH471094;DA621425;NM_153022 AAH98571;AAI31524;AAQ89204;BAB70998;EAW96162;EAW96163;NP_694567;Q4KMG9 Hs.226422 1672095;1736874 D12S1275;WI-11901 C12orf59;FLJ31166;MGC111385 OTTHUMP00000238737;OTTHUMP00000238738;hypothetical protein LOC120939;transmembrane protein 52B;uncharacterized protein C12orf59 APPROVED protein-coding ENSG00000165685 26438 08709 VALIDATED 1316828 TMEM50B transmembrane protein 50B 21 21 21 q22.11 20011535 20051915 - 33743318 33774151 - 34804793 34852316 - 6480464 11256614;16780588;17567994;15489334;12975309;12477932;10830953;10077530;8889548;16344560;23128233 757 C9J8P5;C9K0I4;F8WBF4;F8WDH1;P56557 ABBA01057342;ABBA01057343;ABBA01057344;ABBA01057345;AC207981;AF039906;AF045606;AF086280;AK129657;AK309977;AK310701;AK311870;AL355685;AMYH01012211;AP000300;AP000301;AP000302;AY358634;AY820138;BC000569;BF696480;BM152475;CB306801;CH471079;DA286739;DQ286229;DQ656043;NG_007570;NM_006134;NR_040016 AAC05090;AAC05974;AAH00569;AAQ88997;AAV68502;ABB91377;BAC85209;BAG34811;EAX09832;EAX09833;NP_006125;P56557 Hs.433668;Hs.655101 1679966;1685139;1711976;1735042;1752269;1759869;1759901;1767264;1808322;1810610;1811142;1815408;1819990;1820340;1820774;1820980;1823050;1825342;1827138;1829298;1829452;1832116;1836134;1836404;1837022;1837598;1841368;1844760;2028456;2028458;2028460;2028462;2028464;2028466;2028468;2028470;2028588;2028590;2028592;2028594;2028596;2028598;2028600;2028602;2028604;2028606;2028608;2028610;2028612;2028614;2028616;2028618;2028620;2028622;2028624;2028626;2028628;2028630;2028632;2028634;2028636;2028638;2028640;2028642;2028644;2028646;2028648;2028650;2028652;2028654;2028656;2028658;2028660;2028662;2028664;2028666;2028668;2028670;2028672;2028674;2028676;2028678;2028680;2028682;2028684;2028686;2028688;2028690;2028692;2028694;2028696;2028698;2028700;2028702;2028704;2028706;2028708;2028710;2028712;2028714;2028716;2028718;2028720;2028722;2028724;2028726;2028728;2028730;2028732;2028734;2028736;2028738;2028740;2028742;2028744;2028746;2028748;2028750;2028752;2028754;2028756;2028758;2028760;2028762;2028764;2028766;2028768;2028770;2028772;2028774;2028776;2028778;2028780;2028782;2028784;2028786;2028788;2028790;2028792;2028794;2028796;2028798;2028800;2028802;2028804;2028806;2028808;2028810;2028812;2028814;2028816;2028818;2028820;2028822;2028824;2028826;2028828;2028830;2028832;2028834;2028836;2028838;2028840;2028842;2028844;2028846;2028848;2028850;2101222;2101242;2101244;2101246;2101248;2101250;2101252;2101254;2101256;2101258;2101260;2101262;2101264;2101266;2101268;2101270;2101272;2101274;2101276;2101278;2101280;2101282;2173272 D21S1733E;ECD05142;ECD06298;ECD06569;ECD08740;ECD11066;ECD11245;ECD11462;ECD11566;ECD12613;ECD13777;ECD14684;ECD15778;ECD15857;ECD17196;ECD19228;ECD19364;ECD19675;ECD19966;ECD21880;ECD23595;REN85232;REN85233;REN85234;REN85235;REN85236;REN85237;REN85238;REN85239;REN85298;REN85299;REN85300;REN85301;REN85302;REN85303;REN85304;REN85305;REN85306;REN85307;REN85308;REN85309;REN85310;REN85311;REN85312;REN85313;REN85314;REN85315;REN85316;REN85317;REN85318;REN85319;REN85320;REN85321;REN85322;REN85323;REN85324;REN85325;REN85326;REN85327;REN85328;REN85329;REN85330;REN85331;REN85332;REN85333;REN85334;REN85335;REN85336;REN85337;REN85338;REN85339;REN85340;REN85341;REN85342;REN85343;REN85344;REN85345;REN85346;REN85347;REN85348;REN85349;REN85350;REN85351;REN85352;REN85353;REN85354;REN85355;REN85356;REN85357;REN85358;REN85359;REN85360;REN85361;REN85362;REN85363;REN85364;REN85365;REN85366;REN85367;REN85368;REN85369;REN85370;REN85371;REN85372;REN85373;REN85374;REN85375;REN85376;REN85377;REN85378;REN85379;REN85380;REN85381;REN85382;REN85383;REN85384;REN85385;REN85386;REN85387;REN85388;REN85389;REN85390;REN85391;REN85392;REN85393;REN85394;REN85395;REN85396;REN85397;REN85398;REN85399;REN85400;REN85401;REN85402;REN85403;REN85404;REN85405;REN85406;REN85407;REN85408;REN85409;REN85410;REN85411;REN85412;REN85413;REN85414;REN85415;REN85416;REN85417;REN85418;REN85419;REN85420;REN85421;REN85422;REN85423;REN85424;REN85425;REN85426;REN85427;REN85428;REN85429;RH118439;RH80707;RH93313;SHGC-106201;SHGC-170109;SHGC-170293;SHGC-87557;STS-AA031780;stSG607163;stSG607176;stSG607177;stSG607178;stSG607179;stSG607181;stSG607182;stSG607183;stSG607184;stSG607185;stSG607186;stSG607187;stSG607188;stSG607189;stSG607190;stSG607191;stSG607192;stSG607193;stSG607194;stSG607196;stSG607197;stSG607198 C21orf4;DKFZp686C2482;FLJ26146;HCVP7TP3 HCV p7-trans-regulated protein 3;HCV p7-transregulated protein 3;OTTHUMP00000067860;OTTHUMP00000199740;chromosome 21 open reading frame 4;transmembrane protein 50B protein-coding ENSG00000142188 1280 10747 VALIDATED 1602878 TMEM51 transmembrane protein 51 1 1 1 p36.21 13961915 14029876 + 15352816 15419459 + 15479028 15546974 + 6480464 16710414;15489334;15342556;14702039;12477932;16169070;20379614 55092 B1AP03;Q9NW97 ABBA01004717;ABBA01004718;AK001061;AK098467;AK129922;AK292184;AL035405;AL391094;AL525184;AMYH01000267;AMYH01000268;BC000202;BC000593;BC005177;BM310196;BP275401;CH471167;CR457120;DC295166;DC345032;NM_001136216;NM_001136217;NM_001136218;NM_018022 AAH00202;AAH00593;AAH05177;ADZ16105;BAA91486;BAF84873;CAG33401;EAW51710;EAW51711;EAW51712;EAW51713;EAW51714;NP_001129688;NP_001129689;NP_001129690;NP_060492;Q9NW97 Hs.465305 1698296;1732796;1732980;1764463;1779382;2132189 D1S1253;D1S1359;G30992;RH102685;SHGC-148066;SHGC-153372 C1orf72;FLJ10199 OTTHUMP00000002031;OTTHUMP00000002032;OTTHUMP00000070983;OTTHUMP00000070984;transmembrane protein 51 protein-coding ENSG00000171729 25488 07651 VALIDATED 1603008 TMEM53 transmembrane protein 53 1 1 1 p34.1 43402390 43422988 - 44892088 44912686 - 45119501 45140099 - 6480464 12958361;12477932;8125298;17207965;18029348;21832049 79639 Q5TDE2;Q5TDE3;Q5TDE4;Q5TDE5;Q5TDE6;Q6P2H8 ABBA01050918;AK026006;AK225405;AK296548;AL122004;AL832539;AMYH01000567;BC007521;BC064520;CH471059;CR457348;NM_024587 AAH64520;ADQ32534;BAB15317;BAG59172;CAG33629;CAI46125;EAX07028;EAX07029;EAX07030;NP_078863;Q6P2H8 Hs.22157 1663560;1846570;1852541;1852678;2183153 AL009826;SHGC-74682;SHGC-74702;SHGC-74710;WI-18517 FLJ22353;NET4;RP4-678E16.2 OTTHUMP00000009540;OTTHUMP00000009544;OTTHUMP00000009545;novel DUF829 domain-containing protein;transmembrane protein 53 protein-coding 26186 07989 PROVISIONAL 1606187 TMEM54 transmembrane protein 54 1 1 1 p35-p34 31628831 31635588 - 33132783 33139540 - 33360196 33366953 - 6480464 9500206;15489334;12477932;11394883;19829063 113452 Q969K7 AB012692;ABBA01023392;AC114493;AMYH01000474;AY027543;AY359883;BC001418;BC013953;BC020497;BC023260;CH471059;NM_033504 AAH01418;AAH13953;AAH23260;AAK13050;AAQ64021;BAA87335;EAX07492;EAX07493;NP_277039;Q969K7 Hs.534521 1656138;1730253;2186531 D1S285E;RH15950;SHGC-32985 BCLP;CAC-1;CAC1;MGC10137 OTTHUMP00000004136;OTTHUMP00000004137;beta-casein-like protein;protein CAC-1;transmembrane protein 54 protein-coding ENSG00000121900 24143 12524 PROVISIONAL 1344846 TMEM6 transmembrane protein 6 64731 14166 1602981 TMEM56 transmembrane protein 56 1 1 1 p21.3 93837320 93917579 + 95355572 95431462 + 95582894 95663163 + 6480464 14702039;12477932;8889548;20379614;19322201;23362303 148534 C9J6J2;C9JJM2;Q96MV1 ABBA01045499;ABBA01045500;ABBA01045501;AC092802;AC095033;AK056404;AK126344;AMYH01000810;BC019700;BC108263;BC137457;BC137458;BC139737;BE466427;BQ575814;BU683936;BX537731;CH471097;NM_001199679;NM_152487 AAI37458;AAI37459;AAI39738;BAB71177;EAW73024;EAW73025;NP_001186608;NP_689700;Q96MV1 Hs.483512 1650806;1655957;1697004;1699324;1724199;1727723;1772553;1789020;1856940;5024761 G63126;G65643;RH101976;RH103249;RH121235;RH36905;RH78182;SHGC-30950;SHGC-53700;SHGC-75181 FLJ31842;MGC102912 OTTHUMP00000012540;OTTHUMP00000012541;OTTHUMP00000012542;transmembrane protein 56 protein-coding ENSG00000152078 26477 08110 VALIDATED 1602110 TMEM55A transmembrane protein 55A TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] 8 8 8 q21.3 88201253 88248229 - 92075675 92122227 - 92006499 92053203 - 6480464 16365287;16344560;15489334;12477932;17207965;20164180;19953087;21139048;22505724 55529 E5RFT4;E5RIP9;E5RIY0;E5RJC2;Q8N4L2 ABBA01037413;ABBA01037414;AC087439;AK313783;AL359591;AMYH01018874;AMYH01018875;AX775961;BC033892;CH471060;CR749733;DA171968;NM_018710 AAH33892;ADQ31835;BAG36521;CAE11680;CAH18492;EAW91672;EAW91673;NP_061180;Q8N4L2 Hs.202517 1653015;1657019;1657021;1697814;2173591 D20S201;D8S1146;RH102431;SHGC-36796;WI-16423 DKFZp762O076 OTTHUMP00000225591;OTTHUMP00000225593;OTTHUMP00000225594;PtdIns-4,5-P(2) 4-phosphatase type II;ptdIns-4,5-P2 4-Ptase II;transmembrane protein 55A;type II phosphatidylinositol 4,5-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000155099 25452 13233 609864 VALIDATED 1316692 TMEM55B transmembrane protein 55B TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] 14 14 14 q11.2 787162 790787 - 19995852 19999477 - 20926012 20929637 - 6480464 17940011;16381901;16365287;15489336;15489334;12477932;11076863;21139048;22190034;22505724 90809 G3V3P3;G3V5T5;H0YJ90;Q86T03 ABBA01061230;AK314021;AL137727;AL355075;AMYH01005588;BC002867;BC020947;BX161490;BX248025;CA430067;CH471078;NM_001100814;NM_144568 AAH02867;AAH20947;BAG36732;CAB70896;CAD61939;CAD62347;CAL37623;EAW66460;EAW66461;EAW66462;NP_001094284;NP_653169;Q86T03 Hs.7001 2170932;2174947;2186296 D2S2636;SHGC-36712;WI-18729 C14orf9;DKFZp434M0519;MGC26684 OTTHUMP00000163982;OTTHUMP00000163983;PtdIns-4,5-P(2) 4-phosphatase type I;ptdIns-4,5-P2 4-Ptase I;transmembrane protein 55B;type I phosphatidylinositol 4,5-bisphosphate 4-phosphatase APPROVED protein-coding ENSG00000165782 19299 12660 609865 VALIDATED 1605378 TMEM57 transmembrane protein 57 1 1 1 p36.11 24155217 24224253 + 25630006 25698516 + 25757388 25826700 + 6480464 19060911;15489334;15255972;15231748;12477932;12459264;14702039;21700265;19913121;20628086;21139048;21890473;20686565 55219 Q8N5G2;Q9H5V1 ABBA01059935;ABBA01059936;AK001609;AK311472;AL031284;AMYH01000389;AMYH01000390;AY845015;AY845035;AY845036;BC007687;BC020801;BC032427;BX572623;CH471059;NM_018202 AAH32427;AAX11913;AAX11933;AAX11934;BAA91786;EAX07876;EAX07877;EAX07878;NP_060672;Q8N5G2 Hs.189782 1659557;1660635;1692730;1701114;1733158;1856541;2115237;2142224;2189541 AL009656;AL034134;D1S1466;D6S1937;RH104185;RH36334;SHGC-56764;SHGC-74431;UniSTS:235065 FLJ10747;FLJ23007;MACOILIN;RP3-469D22.2 OTTHUMP00000003535;macoilin protein-coding ENSG00000204178 25572 13340 610301 VALIDATED 1313653 TMEM59L transmembrane protein 59-like This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008] 19 19 19 p12 18625877 18634029 + 18584682 18592849 + 18723682 18731849 + 6480464 10527841;15489334;12477932;21139048;21890473 25789 M0R134;Q9UK28 ABBA01051275;AC003112;AC008998;AF186264;AK309384;AMYH01009597;BC010446;BI752768;CH471106;NM_012109 AAF00529;AAH10446;ACE86634;ACE87316;EAW84726;EAW84727;NP_036241;Q9UK28 Hs.329850 1665235;2121845;2140663 A002Y03;D19S650E;STS-R40163 BSMAP;C19orf4 brain-specific membrane-anchored protein;chromosome 19 open reading frame 4;transmembrane protein 59-like APPROVED protein-coding ENSG00000105696 13237 12709 REVIEWED 1318999 TMEM60 transmembrane protein 60 7 7 7 q11.23 72123641 72128342 - 77260981 77265683 - 77423045 77427747 - 6480464 15489334;12853948;12690205;12477932;20383146 85025 Q9H2L4 ABBA01058019;AC004955;AF260336;AMYH01017631;BC012192;BC065930;BX117806;CH236949;CH471091;NM_032936 AAG44667;AAH65930;AAP21882;AAP21883;ADR82699;EAL24196;EAW77032;NP_116325;Q9H2L4 Hs.19025 5111637 RH80336 C7orf35;DC32;MGC74482 OTTHUMP00000161277;transmembrane protein 60 protein-coding ENSG00000135211 21754 12923 VALIDATED 1321145 TMEM59 transmembrane protein 59 1 1 1 p32.3 52785013 52806776 - 54269937 54291699 - 54497349 54519111 - 1298632;6480464 9653160 16710414;16303743;15489334;14702039;12975309;12477932;11042152;8125298;20379614;20427278;21875946;19322201;18781797;21987572;21139048;21890473;21906983;22451312;21963094;23000965;23376921;22053931;22505724 9528 Q5T6Z8;Q5T703;Q5T704;Q5T706;Q9BXS4 ABBA01074729;AF047439;AF290615;AK075187;AK075505;AK123445;AK124967;AK225624;AL353898;AMYH01000632;AX775907;AX775909;AY359029;BC003106;BC016374;BC062738;BC095464;CH471059;CQ783271;CS051337;NM_004872 AAC39890;AAH03106;AAH16374;AAH62738;AAH95464;AAK28026;AAQ89388;ADZ16012;BAC11658;BAG52079;CAE11653;CAE11654;CAF86476;CAI72163;EAX06704;EAX06705;EAX06706;EAX06707;EAX06708;EAX06709;EAX06710;EAX06711;NP_004863;Q9BXS4 Hs.523262 1645328;1779147;2120094;2182175;5014003;5022578;5022649;5022651;5037552 D11S2875;D11S2921;D17S1136;D1S1423;D8S2279;SGC33632;SHGC-57881;SHGC-74842;SHGC-74862 C1orf8;FLJ42977;HSPC001 OTTHUMP00000010111;OTTHUMP00000010118;chromosome 1 open reading frame 8;liver membrane-bound protein;transmembrane protein 59 protein-coding ENSG00000116209 1239 12731 PROVISIONAL 1604209 TMEM61 transmembrane protein 61 1 1 1 p32.3 53734069 53745570 + 55219053 55230554 + 55446465 55457966 + 6480464 16710414;15489334;12477932;17207965 199964 Q8N0U2 ABBA01074705;AL590440;AMYH01000641;BC029775;CH471059;NM_182532 AAH29775;ADQ32413;EAX06662;NP_872338;Q8N0U2 Hs.663950 1677294 RH93772 OTTHUMP00000011687;transmembrane protein 61 protein-coding ENSG00000143001 27296 14121 PROVISIONAL 1605041 TMEM62 transmembrane protein 62 15 15 15 q15.2 20196546 20248167 + 41213014 41264634 + 43425722 43477342 + 6480464 15489334;14702039;12477932;12434312;8125298;16169070 80021 H3BN45;H3BPP8;H3BPV2;H3BQZ2;H3BRA3;H3BTT1;H3BU73;H3BVF7;Q0P6H9 ABBA01038351;ABBA01038352;ABBA01038353;AC068724;AK027028;AK225353;AK309679;AMYH01006587;BC009981;CH471125;CR457370;NM_024956 AAH09981;BAB15630;CAG33651;EAW92586;EAW92587;NP_079232;Q0P6H9 Hs.511175 1770291;2131040;2145136 A002Q01;RH71146;STS-R42458 FLJ23375 transmembrane protein 62 protein-coding ENSG00000137842 26269 08669 PROVISIONAL 1320973 TMEM63C transmembrane protein 63C 14 14 14 q24.3 57686703 57764477 + 76717923 76795591 + 77648102 77725838 + 6480464 14702039;12508121;12477932;20379614;22925353 57156 G3V2V1;G3V3H0;G3V3S4;G3V3S9;G3V4J5;Q9P1W3 ABBA01030656;ABBA01030657;ABBA01030658;ABBA01030659;ABBA01030660;ABBA01030661;AC007375;AC007954;AK124749;AK125159;AL137278;AL157492;AL537279;AMYH01005879;AMYH01005880;BC136613;BC136614;BX248756;BX248759;CH471061;NM_020431 AAF62556;AAF63182;AAI36614;AAI36615;BAG54088;BAG54157;CAB75676;CAD66563;CAD66566;EAW81272;EAW81273;NP_065164;Q9P1W3 Hs.22452 1732594;2122332 D10S1478;D14S1230 C14orf171 OTTHUMP00000246478;transmembrane protein 63C protein-coding ENSG00000165548 23787 16617 VALIDATED 1605419 TMEM63A transmembrane protein 63A 1 1 1 q42.12 199224296 199261462 - 224099863 224136671 - 226033233 226070420 - 6480464 16710414;15489334;14702039;12477932;9872452;9455484;8125298;19913121;20628086;16344560 9725 O94886;Q2HIZ8 AB007958;AB018335;ABBA01009662;AK022502;AK222934;AK222944;AK309210;AL117348;AL591895;AMYH01001774;BC030245;BC113811;BF512395;CH471098;CQ834864;DA127076;NM_014698 AAH30245;AAI13812;BAA34512;BAD96654;BAD96664;BAG51078;CAH05647;EAW69758;EAW69759;NP_055513;O94886 Hs.119387 1664936;1675989;1735956;2114463;2126291;2152756;2191325;5015881;5037552 D1S1937E;D1S3504;D8S2279;GDB:335751;MARC_17431-17432:1022875841:6;RH80101;SHGC-76439;STS-R42498;STS-X07936 KIAA0489;KIAA0792;RP4-559A3.1 OTTHUMP00000035571;transmembrane protein 63A protein-coding ENSG00000196187 29118 13817 VALIDATED 1606436 TMEM64 transmembrane protein 64 8 8 8 q21.3 87828918 87852827 - 91704778 91727112 - 91634223 91658133 - 6480464 14702039;12477932;21906983 169200 E5RIS8;H0Y6S7;Q6YI46 AA044031;AB015752;ABBA01037409;ABBA01037410;AC106038;AK095472;AK123958;AK300583;AL834364;AMYH01018873;AY147881;BC017409;BC113828;CH471060;NM_001008495;NM_001146273 AAI13829;AAN05737;BAG53986;BAG62282;CAD39028;EAW91668;NP_001008495;NP_001139745;Q6YI46 Hs.567759;Hs.737401 2119106 WI-15041 DKFZp762C1112 OTTHUMP00000211659;OTTHUMP00000211660;transmembrane protein 64 protein-coding ENSG00000180694 25441 16822 VALIDATED 1314147 TMEM63B transmembrane protein 63B 6 6 6 p21.1 45648517 45676397 + 44203354 44231234 + 44095376 44123256 + 6480464 15489334;14702039;14574404;12477932;20360068;21890473;19322201 55362 E9PNG1;H0YCP6;H0YDJ6;H3BLW6;Q5T3F8 ABBA01050648;AK093629;AK309791;AL353957;AL365192;AL834238;AMYH01016319;BC022095;BC062989;BC093086;BC136769;BE463633;CH471081;CR627460;NM_018426 AAH62989;AAI36770;BAC04207;CAB89257;CAD38916;CAH10540;EAX04246;EAX04247;EAX04248;NP_060896;Q5T3F8 Hs.414473 1774247;2191325 MARC_17431-17432:1022875841:6;STS-W72853 C6orf110;DKFZp686N2275;RP3-421H19.2 OTTHUMP00000016501;OTTHUMP00000016503;OTTHUMP00000016504;OTTHUMP00000236537;chromosome 6 open reading frame 110;transmembrane protein 63B protein-coding ENSG00000137216 17735 16656 VALIDATED 1603356 TMEM65 transmembrane protein 65 8 8 8 q24.13 121511293 121573166 - 125392340 125454121 - 125323159 125384940 - 6480464 15489334;12477932;8889548;20877624;22939629;19322201 157378 Q6PI78 ABBA01037891;AC090192;AMYH01019008;AW300050;BC017881;BC032396;BC041379;BM679703;BQ433192;CH471060;DB479586;NM_194291 AAH17881;AAH32396;AAH41379;EAW92061;NP_919267;Q6PI78 Hs.187646 1750631;1761093 SHGC-111940;SHGC-145074 OTTHUMP00000228203;transmembrane protein 65 protein-coding 25203 14102 VALIDATED 1604621 TMEM66 transmembrane protein 66 8 8 8 p12 28879934 28899952 - 30040173 30060191 - 29920631 29940649 - 6480464 16303743;15489334;15340161;14702039;12975309;12477932;11042152;8125298;16169070;20379614;22464749;21987572;21139048;21890473;21906983;18502753;17110338;21963094;23000965;23049731 51669 E5RFJ9;E5RHW0;E5RJG8;E5RJV6;E5RK07;H0YAN9;H0YAZ1;H0YBH7;Q9Y683 AB028926;ABBA01023672;AC044849;AF078855;AF100748;AF490252;AK025927;AK075340;AK094386;AK130057;AK222632;AK295360;AK314659;AK315956;AMYH01018616;AMYH01018617;AY359104;BC015012;CH471080;CQ834206;JQ348891;JQ348892;NM_016127;Z70223 AAD43012;AAD44487;AAH15012;AAO85460;AAQ89462;ABM83377;ABM86589;AEZ06361;AEZ06362;BAB82465;BAD96352;BAG52116;BAG52863;BAH12043;BAH14327;CAH05318;EAW63471;EAW63472;EAW63473;EAW63474;NP_057211;Q96BY9 Hs.521487 1649827;1851024;2126513;2131241;2183600 D8S1463;D8S2122;RH66551;STS-W87932;WI-20115 FLJ22274;FOAP-7;HSPC035;MGC8721;SARAF;XTP3 HBV X-transactivated gene 3 protein;HBV XAg-transactivated protein 3;OTTHUMP00000164581;OTTHUMP00000225012;SARAF long isoform;SARAF short isoform;SOCE-associated regulatory factor;protein FOAP-7;store-operated calcium entry-associated regulatory factor;transmembrane protein 66 protein-coding ENSG00000133872 28789 08651 614768 PROVISIONAL 1605680 TMEM69 transmembrane protein 69 1 1 1 p34.1 44437828 44444089 + 45926434 45932695 + 46153847 46160108 + 6480464 16710414;16344560;15489334;12477932;11042152 51249 Q5SWH9 ABBA01050859;ABBA01050860;AF151063;AK024682;AL604028;AMYH01000576;BC013608;BC034147;BC039718;BC040289;BC046130;BC054041;BC064539;BC073836;BC104636;BC121117;BC133692;CH471059;CS300524;DA451438;NM_016486 AAF36149;AAH13608;AAH34147;AAH39718;AAH46130;AAH64539;AAH73836;AAI21118;AAI33693;CAK32188;EAX06953;EAX06954;NP_057570;Q5SWH9 Hs.699548 1686893;2149789;5493117 RH65107;SHGC-30539;UniSTS:484369 C1orf154;FLJ21029;MGC104183;RP11-767N6.4 OTTHUMP00000038561;transmembrane protein 69 protein-coding 28035 14234 VALIDATED 1603902 TMEM68 transmembrane protein 68 8 8 8 q12.1 52641534 52677152 - 56813874 56848439 - 56651320 56685885 - 6480464 15489334;14702039;12477932;20379614;21906983;19322201 137695 E5RGT2;E5RHI6;E5RHU1;E5RHZ2;E5RJ96;E5RJI9;E5RJN2;H0YAX4;H0YAY9;H0YC64;Q96MH6 ABBA01041748;AC100817;AK056932;AK308247;AL832935;AMYH01018732;BC020835;BC043417;BC071636;CH471068;NM_152417 AAH20835;AAH43417;AAH71636;BAB71312;CAH56335;EAW86758;EAW86759;EAW86760;NP_689630;Q96MH6 Hs.420076 1644477;1657520;1679365;2122158;2167782;5016596;5016851 D8S2041;GDB:631802;RH47106;RH48170;RH66108;RH80031;RH94018 FLJ32370;MGC87778 OTTHUMP00000226377;OTTHUMP00000226378;OTTHUMP00000226379;OTTHUMP00000226383;transmembrane protein 68 protein-coding ENSG00000167904 26510 08128 PROVISIONAL 1606753 TMEM67 transmembrane protein 67 The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008] 8 8 q22.1 94836321 94898323 + 94767072 94831462 + 6480464;7240710 19058225;18327255;17397051;17377820;17185389;17160906;16415887;16344560;15489334;14702039;12477932;12384791;20232449;19508969;19515853;19574260;19815549;21068128;21906983;22318606;20301500;20301537 91147 C9JHI2;C9JRQ8;E5RG10;E5RH38;F8WCQ6;H0YAR5;H0YB69;H0YC18;Q5HYA8 ABBA01037438;ABBA01037439;AC010834;AK026742;AK092244;AK094935;AK297676;AK308071;AK308735;AMYH01018883;BC017974;BC031220;BC032835;BC054338;BM310097;BX648768;CH471060;DA928293;DC368894;NG_009190;NM_001142301;NM_153704;NR_024522 AAH32835;ADZ16062;BAG52507;BAG52959;BAG60037;CAI45999;EAW91701;EAW91702;EAW91703;NP_001135773;NP_714915;Q5HYA8 Hs.116240 1298230;1697170;1698068;5022651;5037552 D11S2921;D8S1128;D8S2279;RH102073;RH102566 JBTS6;MECKELIN;MGC26979;MKS3;NPHP11;TNEM67 Meckelin;OTTHUMP00000203157;OTTHUMP00000203158;OTTHUMP00000203160;meckel syndrome type 3 protein APPROVED protein-coding ENSG00000164953 28396 11324 209900;216360;607361;609884;610688;613550 REVIEWED 1606965 TMEM71 transmembrane protein 71 8 8 8 q24.22 129896999 129948734 - 133791376 133842010 - 133722191 133772914 - 6480464 15489334;14702039;12477932 137835 E5RGD3;E5RH69;E5RHR5;E5RIQ3;E5RJJ0;H0YB65;Q6P5X7 ABBA01014205;AF228727;AK057631;AMYH01019037;BC022053;BC062592;BC105783;BG505962;CH471060;NM_001145153;NM_144649 AAH22053;AAH62592;AAI05784;BAB71537;EAW92145;EAW92146;EAW92147;NP_001138625;NP_653250;Q6P5X7 Hs.293842 1675939 RH76737 FLJ33069;MGC111188 OTTHUMP00000227148;OTTHUMP00000227149;OTTHUMP00000227150;transmembrane protein 71 protein-coding ENSG00000165071 26572 08154 VALIDATED 5509640 TMEM72-AS1 TMEM72 antisense RNA 1 10 q11.21 45306472 45455137 - 14702039;16344560;20709820 220980 ABBA01050023;AK056518;AL139119;AL353801;AMYH01002296;AMYH01002297;DB298676;NR_033842 Hs.568801 1730972;1744255;1755067;2134491 AFMb032yh1;D10S255;GDB:439096;SHGC-142004 APPROVED miscrna ENSG00000224812 27349 PREDICTED 1354072 TMEM72 transmembrane protein 72 10 10 10 q11.21 41409939 41433817 + 44726770 44750648 + 45406764 45430642 + 6480464 12477932 643236 A0PK05 AB235418;ABBA01050023;AL353801;AMYH01002297;BC029135;BC127789;BC127790;BX538120;NM_001123376 A0PK05;AAI27790;AAI27791;BAF97794;NP_001116848 Hs.292788 1730972;2134491 AFMb032yh1;D10S255 C10orf127;DKFZp686M0585;KSP37;MGC157906;bA285G1.3 OTTHUMP00000019500;kidney-specific secretory protein of 37 kDa;transmembrane protein 72 protein-coding 31658 PROVISIONAL 1354046 TMEM74B transmembrane protein 74B 20 20 20 p13 1257551 1261455 - 1109215 1113117 - 1161215 1165117 - 6480464 17474147;14702039;11780052;20944657 55321 Q5QPM3;Q9NUR3 ABBA01053766;AK002052;AL031665;AMYH01011663;CH471133;NM_018354 AAI56782;BAA92058;EAX10647;EAX10648;NP_060824;Q9NUR3 Hs.516834 1721381;1858550 G59692;WIAF-2129 C20orf46;FLJ11190 OTTHUMP00000029949;OTTHUMP00000029950;transmembrane protein 74B;transmembrane protein C20orf46 APPROVED protein-coding ENSG00000125895 15893 12772 PROVISIONAL 1603032 TMEM70 transmembrane protein 70 This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] 8 8 q21.11 75050984 75057570 + 74888377 74895018 + 6480464 14702039;18953340;15489334;12477932;8125298;21147908;20877624;16169070;19103153;20200953;20237496;20335238;8889548;19913121;20628086;20920610;20937241;21815885;21945727;21139048;21890473;21906983;22986587;21963094;22433607 54968 D4PHA6;E9PDY9;Q9BUB7 ABBA01041976;ABBA01041977;AC022868;AI800622;AK000540;AK225531;AK225536;AMYH01018798;BC002748;BF439499;BM984431;BU542365;CB961613;CH471068;DB483583;NG_016618;NM_001040613;NM_017866;NR_033334 AAH02748;BAA91240;EAW87022;EAW87023;NP_001035703;NP_060336;Q9BUB7 Hs.106650 2113890;2114334;2171472 AB070008;D8S2076;WI-15063 FLJ20533;MC5DN2 OTTHUMP00000226855;OTTHUMP00000226856;transmembrane protein 70, mitochondrial APPROVED protein-coding ENSG00000175606 26050 07923 612418;614052 REVIEWED 1602783 TMEM75 transmembrane protein 75 8 8 q24.21 129029046 129030151 - 128958805 128960969 - 14702039;12477932;23251661 641384 Q8N9X5 ABBA01037953;AC103705;AK093424;AMYH01019015;AX748117;BC137383;BC137385;NR_103558;XR_108887;XR_113172;XR_171751 AAI37384;AAI37386;Q8N9X5 Hs.629674 FLJ36105 2292709 PRSTS2_H miscrna 32295 VALIDATED 1606867 TMEM81 transmembrane protein 81 1 1 1 q32.1 178187174 178188505 - 203318880 203320211 - 205052257 205053588 - 6480464 12975309;12477932 388730 Q6P7N7 ABBA01027432;AK303432;AL583832;AMYH01001667;AY359081;BC061592;CH471067;NM_203376 AAH61592;AAQ89440;BAG64482;EAW91535;NP_976310;Q6P7N7 Hs.146928 HC3107;KVLA2788;MGC75217;UNQ2788 OTTHUMP00000035176;transmembrane protein 81 protein-coding ENSG00000174529 32349 14205 VALIDATED 1603825 TMEM82 transmembrane protein 82 1 1 1 p36.21 14551934 14557494 + 15941504 15947064 + 16068917 16074477 + 6480464 12477932;23251661 388595 A0PJX8 ABBA01004700;AL450998;AMYH01000274;BC127706;BC127707;BC137239;BC137240;CH471167;NM_001013641 A0PJX8;AAI27707;AAI27708;AAI37240;AAI37241;EAW51749;NP_001013663 Hs.454828 2160272 RH48605 OTTHUMP00000003097;transmembrane protein 82 protein-coding ENSG00000162460 32350 18383 VALIDATED 1603868 TMEM80 transmembrane protein 80 11 11 11 p15.5 768788 772796 + 685616 694129 + 695616 704129 + 6480464 12477932;8889548 283232 B7Z7W9;E9PQJ9;Q96HE8 ABBA01015201;AC131934;AI739035;AK124309;AK302585;AMYH01003291;BC008671;BC038383;BI916171;BM874316;CA443683;CB044312;CF134831;CH471158;CK819789;DR006597;HY080028;NM_001042463;NM_001276253;NM_001276274;NM_174940 AAH08671;BAH13755;EAX02372;EAX02373;NP_001035928;NP_001263182;NP_001263203;NP_777600;Q96HE8 Hs.448664 1856587 WI-17473 FLJ38216;FLJ55823 OTTHUMP00000164430;OTTHUMP00000211855;OTTHUMP00000229622;transmembrane protein 80 protein-coding ENSG00000177042 27453 14143 VALIDATED 1605858 TMEM74 transmembrane protein 74 8 8 8 q23.1 105982575 105986999 - 109864522 109868946 - 109795346 109799770 - 6480464 18294959;15489334;14702039;12477932;17207965 157753 Q96NL1 ABBA01037707;AC104247;AK055230;AMYH01018957;BC030710;CH471060;NM_153015 AAH30710;ADQ31879;BAB70881;EAW91921;EAW91922;NP_694560;Q96NL1 Hs.99439 1691286;2182061 BCD2347;RH92459 FLJ30668;NET36 OTTHUMP00000227801;transmembrane protein 74 protein-coding 26409 08702 613935 PROVISIONAL 2802463 TMEM88B transmembrane protein 88B 1 1 p36.33 1351425 1353030 + 1361508 1363167 + 6480464 16710414 643965 A6NKF7 ABBA01016040;AL391244;AMYH01000132;AMYH01000133;NM_001146685 A6NKF7;NP_001140157 Hs.729765 1732852;1766309 D1S1287;SHGC-149656 transmembrane protein 88B protein-coding ENSG00000205116 37099 VALIDATED 1601945 TMEM79 transmembrane protein 79 1 1 1 q22 129325685 129335202 + 154519363 154528858 + 156252704 156262234 + 6480464 17081983;16710414;16344560;15489334;14702039;12477932;17207965 84283 Q5SZW9;Q5SZX3;Q9BSE2 ABBA01016664;AK056816;AK122634;AK315767;AL589685;AMYH01001436;BC005094;BF448444;CH471121;DA678865;DA880152;NM_032323;NR_026678 AAH05094;ADQ31815;BAB71290;BAG38119;EAW52970;EAW52971;EAW52972;NP_115699;Q9BSE2 Hs.347408 1686360;2113474 D1Z10;RH92907 FLJ16057;FLJ32254;MGC13102 OTTHUMP00000021230;OTTHUMP00000021231;OTTHUMP00000021232;transmembrane protein 79 protein-coding ENSG00000163472 28196 17481 VALIDATED 1601825 TMEM86A transmembrane protein 86A 11 11 11 p15.1 18856213 18862194 + 18676927 18682908 + 18720351 18726332 + 6480464 16303743;15489334;14702039;12477932;17207965;22116950;22797925 144110 Q8N2M4 ABBA01061048;AC103974;AK074600;AMYH01003428;AMYH01003429;BC017073;BC035692;CH471064;CQ782568;NM_153347 AAH17073;AAH35692;ADQ32657;BAC11084;CAF85844;EAW68373;NP_699178;Q8N2M4 Hs.502100 1665604;1737123;1738073 D11S2939;D11S3698;STS-R16823 FLJ90119 OTTHUMP00000231887;lysoplasmalogenase-like protein TMEM86A;transmembrane protein 86A protein-coding ENSG00000151117 26890 08292 PROVISIONAL 1606359 TMEM89 transmembrane protein 89 3 3 3 p21.31 48614015 48614929 - 48633279 48634193 - 48658275 48659189 - 6480464 12477932 440955 A2RUT3 ABBA01024643;AC121252;AMYH01013152;AX657016;BC133034;BC133036;CH471055;NM_001008269 A2RUT3;AAI33035;AAI33037;CAD79709;EAW64899;NP_001008270 Hs.631922 5124362 RH92027 OTTHUMP00000210299;transmembrane protein 89 protein-coding 32372 17401 PROVISIONAL 1603160 TMEM86B transmembrane protein 86B 19 19 19 q13.42 52779538 52782168 - 60429924 60432444 - 55738002 55740632 - 6480464 15489334;12477932;17207965;21515882;22318606 255043 Q8N661 AA953377;ABBA01068115;AC010327;AK126545;AMYH01009987;BC023000;BC033193;CH471135;NM_173804 AAH23000;ADQ31654;EAW72350;EAW72351;NP_776165;Q8N661 Hs.135215 2155364 RH48409 MGC30208 lysoplasmalogenase;transmembrane protein 86B protein-coding ENSG00000180089 28448 14540 VALIDATED 1605922 TMEM87B transmembrane protein 87B 2 2 2 q13 106168949 106232478 - 112529285 112591101 + 112812800 112876895 + 6480464 16344560;14702039;14684825;12477932 84910 H7C0B3;H7C1G1;Q96K49 ABBA01005786;ABBA01005787;AC092645;AC093675;AI806006;AK027587;AK074243;AK290294;AMYH01010949;AMYH01010950;AY429534;AY429535;BC115373;CH471245;DA550235;DA806277;NM_032824 AAI15374;AAY14853;AAY24214;BAB55214;BAF82983;EAW52099;NP_116213;Q96K49 Hs.656298 1699308;1715525;1734238;1858395;2130893;2158089 D2S1495E;D2S2895;G16382;RH103240;RH120909;SHGC-64340 FLJ14681 OTTHUMP00000203576;transmembrane protein 87B protein-coding ENSG00000153214 25913 07867 VALIDATED 3302829 TMEM8C transmembrane protein 8C 9 9 q34.2 135369579 135379787 - 136379708 136390068 - 389827 A6NI61 ABBA01032455;ABBA01032456;AMYH01021805;BX324209;NM_001080483 A6NI61;NP_001073952 Hs.512467 1738299;1738309 D9S1268;D9S1311 MYOMAKER;TMEM226 M83-like;OTTHUMP00000215815;transmembrane protein 226;transmembrane protein 8-like;transmembrane protein 8C protein-coding ENSG00000187616 33778 615345 VALIDATED 1601835 TMEM88 transmembrane protein 88 17 17 17 p13.1 7786205 7787238 + 7699109 7700142 + 7758384 7759417 + 6480464 15489334;12477932;21044957;22573352 92162 I3L2J3;Q6PEY1 ABBA01054889;AC104581;AK000032;AMYH01008086;BC057812;CH471108;NM_203411 AAH57812;EAW90124;EAW90125;NP_981956;Q6PEY1 Hs.389669 2126984;2132294 RH36044;WI-11540 FLJ20025;MGC71744 transmembrane protein 88 protein-coding ENSG00000167874 32371 17438 VALIDATED 1603672 TMEM87A transmembrane protein 87A 15 15 15 q15.1 19270425 19333454 - 40290026 40352923 - 42502726 42565755 - 6480464 17081983;16303743;15489334;12477932;12434312;10332034;20972266;21139048;21890473;21906983 25963 H3BM87;H3BMU0;H3BPJ4;H3BRG0;H3BSZ0;H3BTS6;H3BUZ1;Q8NBN3 ABBA01038379;AC022468;AC036103;AF129927;AF132733;AI023965;AK074870;AK075403;AK289591;AK290150;AK290484;AK297816;AK309915;AK309954;AL049944;AMYH01006580;BC005335;BC069240;BM989574;CH471125;CQ782835;CQ834520;DC341748;NM_001110503;NM_015497 AAF66444;AAH05335;AAH69240;BAC11256;BAC11598;BAF82280;BAF82839;BAF83173;BAG60154;CAB43218;CAF86061;CAH05475;EAW92540;EAW92541;EAW92542;NP_001103973;NP_056312;Q8NBN3 Hs.511138 1651245;1659695;1686084;1689147;1725683;1736752;1736774;2128784;2155384;2170339 D15S762;D15S775;G31129;G62108;RH25565;RH41953;RH77803;RH80517;SHGC-17218;SHGC-57919 DKFZp564G2022 transmembrane protein 87A protein-coding ENSG00000103978 24522 VALIDATED 1322834 TMEM8A transmembrane protein 8A 16 16 16 p13.3 621328 632498 - 360777 371951 - 420776 431950 - 1580863;6480464 11006113;16344560;15616553;15489334;14702039;12477932;11157797 58986 C9J8D7;H0Y5B2;H7C1S0;K4DI83;Q9HCN3 AB045292;ABBA01030376;AE006463;AI678371;AK024725;AK091823;AL537021;AL546643;AMYH01006990;BC004276;BC021557;CH471112;DB224383;NM_021259;Z97634 AAH04276;AAH21557;AAK61227;ABM82961;ABM86152;BAB14975;BAB16376;EAW85823;EAW85824;EAW85825;NP_067082;Q9HCN3 Hs.288940 1805386;1805716;1806240;1807760;1808022;1808518;1809246;1810252;1811872;1811940;1814142;1816986;1818230;1819782;2049178;2049180;2049182;2049184;2049186;2049188;2049190;2049192;2049194;2049196;2049198;2049200;2049202;2049204;2049206;2049208;2049210;2049212;2049214;2049216;2049218;2049220;2049222;2049224;2049226;2049228;2049230;2049232;2049234;2049236;2049238;2049240;2049242;2049244;2049246;2049248;2049250;2049252;2049254;2049256;2049258;2049260;2049262;2049264;2049266;2049268;2049270;2049272;2049274;2049276;2049278;2049280;2049282;2104714;2104716;2104718;2104720;2104722;2104724;2104726;2104728;2104730;2104732;2115804;2137970;2161675;2165274 ECD03640;ECD03808;ECD04075;ECD04853;ECD04989;ECD05241;ECD05613;ECD06118;ECD06940;ECD06974;ECD08100;ECD09542;ECD10172;ECD10961;NIB1488;REN95732;REN95733;REN95734;REN95735;REN95736;REN95737;REN95738;REN95739;REN95740;REN95741;REN95742;REN95743;REN95744;REN95745;REN95746;REN95747;REN95748;REN95749;REN95750;REN95751;REN95752;REN95753;REN95754;REN95755;REN95756;REN95757;REN95758;REN95759;REN95760;REN95761;REN95762;REN95763;REN95764;REN95765;REN95766;REN95767;REN95768;REN95769;REN95770;REN95771;REN95772;REN95773;REN95774;REN95775;REN95776;REN95777;REN95778;REN95779;REN95780;REN95781;REN95782;REN95783;REN95784;RH15994;RH45380;STS-AA029713;stSG609077;stSG609078;stSG609079;stSG609080;stSG609081;stSG609082;stSG609083;stSG609084;stSG609085;stSG609087 M83;TMEM6;TMEM8 OTTHUMP00000045640;OTTHUMP00000199684;five-span transmembrane protein M83;transmembrane protein 6;transmembrane protein 8 (five membrane-spanning domains);transmembrane protein 8A protein-coding ENSG00000129925 17205 11636 VALIDATED 6481442 TMEM97P1 transmembrane protein 97 pseudogene 1 21 45202960 45203442 + 100873880 ABBA01074137;AMYH01012282;AP001053;NG_032333 pseudo 39640 INFERRED 1603857 TMEM95 transmembrane protein 95 17 17 17 p13.1 7284442 7286483 + 7199221 7201262 + 7258497 7260538 + 6480464 12975309;12477932 339168 Q3KNT9 ABBA01054860;AC026954;AMYH01008078;AY358218;BC040900;BC107110;CH471108;NM_198154 AAH40900;AAI07111;AAQ88585;EAW90205;EAW90206;EAW90207;NP_937797;Q3KNT9 Hs.259432 1335571;5493585 D17S960;UniSTS:487308 MGC129793;UNQ9390 OTTHUMP00000163816;OTTHUMP00000163820;transmembrane protein 95 protein-coding ENSG00000182896 27898 14165 PROVISIONAL 5129004 TMEM97P2 transmembrane protein 97 pseudogene 2 8 8 8 p21.3 19752784 19754982 - 20834312 20836707 - 20790128 20792327 - 724059 ABBA01021541;AC015468;AMYH01018561;NG_005603 1670029 SHGC-11786 pseudo 39641 INFERRED 1320668 TMEM8B transmembrane protein 8B 9 9 p13.3 35819222 35844844 + 35829222 35854844 + 6480464 15498789;17641538;17270023;15723283;15489334;15164053;12918109;12477932;12474055;11565907;9110174;8619474;20705583;19499154;19755717;20423473;20859756;20543461;22647848;21464545;16713569;23053953 51754 A6NDV4 ABBA01064982;ABBA01064983;AF070572;AF188239;AK074844;AL133410;AMYH01019347;BC041377;BC043384;BC064951;BC082765;BC098265;BC098296;BC099733;CH471071;CQ783981;NM_001042589;NM_001042590;NM_016446 A6NDV4;AAC28644;AAG29055;AAH98265;AAH98296;AAH99733;BAG52015;CAF86955;EAW58325;EAW58326;EAW58327;EAW58328;NP_001036054;NP_001036055;NP_057530 Hs.493808 1700652;1777850;2161260;2191005 D9S1165;MARC_12861-12862:1000493489:1;RH103949;RH11958 C9orf127;MGC120460;NAG-5;NGX6;RP11-112J3.10 OTTHUMP00000021354;OTTHUMP00000021355;OTTHUMP00000021362;Protein NGX6;nasopharyngeal carcinoma expressed 6;nasopharyngeal carcinoma related protein;nasopharyngeal carcinoma-associated gene 6 protein;protein NAG-5;transmembrane protein 8B protein-coding ENSG00000137103 21427 16674 VALIDATED 1602234 TMEM91 transmembrane protein 91 19 19 19 q13.2 38669744 38689857 + 46561711 46581828 + 41869871 41889988 + 6480464 16344560;14702039;12477932;8889548;19913121;20628086 641649 F5GWC9;F5H665;F8W6Q6;H0YFW9;H0YG43;H0YGI4;Q6ZNR0 ABBA01040805;ABBA01040806;AC011462;AI214374;AI277187;AK130820;AL833095;AMYH01009819;BC063705;BF684543;BG697182;BM675470;BM726200;BM931402;BX090160;CH471126;DA673235;NM_001042595;NM_001098821;NM_001098822;NM_001098823;NM_001098824;NM_001098825;R01772;R67551 AAH63705;BAC85439;EAW57036;EAW57037;NP_001036060;NP_001092291;NP_001092292;NP_001092293;NP_001092294;NP_001092295;Q6ZNR0 Hs.709417 1664125;2218162;5015861;5109281;7185938 (CT)_(CA)_R1;D10S16;D1S1425;STS-AA024836 DSPC3;FLJ27310;FLJ45695;IFITMD6 OTTHUMP00000238002;OTTHUMP00000238003;OTTHUMP00000238004;OTTHUMP00000238005;OTTHUMP00000238006;OTTHUMP00000238009;OTTHUMP00000238010;dispanin subfamily C member 3;interferon induced transmembrane protein domain containing 6;transmembrane protein 91 protein-coding ENSG00000142046 32393 VALIDATED 1603555 TMEM92 transmembrane protein 92 17 17 17 q21.33 44810072 44820146 + 45706832 45713843 + 48348767 48358846 + 6480464 15489334;14702039;12975309;12477932;16344560;19834535 162461 Q6UXU6 ABBA01041237;AC015909;AK090637;AMYH01008471;AW293202;AY358204;BC064507;CH471109;DB072318;NM_001168215;NM_153229 AAH64507;AAQ88571;BAC03495;EAW94628;NP_001161687;NP_694961;Q6UXU6 Hs.224630 FLJ33318 OTTHUMP00000221160;OTTHUMP00000221161;transmembrane protein 92 protein-coding ENSG00000167105 26579 08743 VALIDATED 1317397 TMEM9 transmembrane protein 9 1 1 1 174227881 174247611 - 199370523 199390243 - 201103900 201123632 - 1580863;6480464 15489336;12359240;18541524;16381901;16303743;15489334;14702039;12975309;12477932;11230166;11076863;11042152;16169070;20379614;22939629;21139048;21906983;22053931 252839 B1ALM4;B1ALM5;B1ALM7;B1ALM8;F2Z389;Q9P0T7 AB013909;ABBA01027535;AF151020;AK054883;AK075335;AK091726;AK094588;AK296307;AK303843;AL136600;AL139159;AMYH01001640;AY138587;AY359012;BC001106;CH471067;CR457162;CR533467;CS051125;CS072356;NM_016456 AAF36106;AAH01106;AAN15925;AAQ89371;BAB70820;BAB87799;BAC11554;BAG59006;BAG64786;CAB66535;CAG33443;CAG38498;CAI72058;CAI93494;CAL38191;CAL38483;EAW91337;EAW91338;EAW91339;EAW91340;EAW91341;EAW91342;EAW91343;EAW91344;NP_057540;Q9P0T7 Hs.181444 1342206;1655434;1683597;1715207;2134937 D1S2716;HSC2QF012;RH119854;RH76360;WI-11986 TMEM9A OTTHUMP00000033976;OTTHUMP00000033977;OTTHUMP00000033978;OTTHUMP00000033979;OTTHUMP00000038639;OTTHUMP00000038640;OTTHUMP00000038642;OTTHUMP00000038643;dermal papilla-derived protein 4;transmembrane protein 9 protein-coding ENSG00000116857 18823 15542 VALIDATED 1607046 TMEM97 transmembrane protein 97 TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009] 17 17 17 q11.2 23507857 23517453 + 23670248 23679838 + 26646121 26655711 + 6480464 7694637;18070364;17143516;16344560;15489334;15375745;12477932;19583955;21079401;21832049;18029348;21139048;21890473;19322201;22024687;23229099;23254963 27346 J3KT68;J3KTD1;Q5BJF2;Q86XC5 ABBA01015060;AC002094;AK293331;AK299511;AK307678;AMYH01008277;BC017362;BC045655;BC091504;CA441136;CH471159;DA410183;L19183;NM_014573 AAA16188;AAH45655;AAH91504;BAG56847;BAG61464;EAW51067;EAW51068;EAW51069;NP_055388;Q5BJF2 Hs.199695 1670029;1677808;1682766;1754015;1855376;2126013 D20S1105;RH17628;RH24980;SHGC-11786;SHGC-132058;UniSTS:21338 MAC30 OTTHUMP00000163319;transmembrane protein 97 APPROVED protein-coding ENSG00000109084 28106 14343 612912 VALIDATED 1607062 TMEM98 transmembrane protein 98 17 17 17 q11.2 28165912 28179653 + 28279041 28292780 + 31254928 31268667 + 6480464 11256614;16381901;15489336;15489334;12975309;12477932;11230166;11076863;21900206;21906983 26022 C9J3Y0;C9J6Q8;J3QLG7;J3QS57;J9JIC8;Q9Y2Y6 ABBA01000734;AC084809;AF132000;AK313569;AL117619;AMYH01008345;AMYH01008346;AY358573;BC000526;BC106911;CH471147;CR457125;NM_001033504;NM_015544 AAD22105;AAH00526;AAI06912;AAQ88936;BAG36342;CAB56018;CAG33406;CAL37523;EAW80219;EAW80220;NP_001028676;NP_056359;Q9Y2Y6 Hs.3447 1681771;2166505 RH69576;RH93761 DKFZp564K1964 OTTHUMP00000163788;OTTHUMP00000163789;OTTHUMP00000163790;OTTHUMP00000163791;transmembrane protein 98 protein-coding ENSG00000006042 24529 13171 VALIDATED 1603177 TMEM99 transmembrane protein 99 17 17 17 q21.2 35636925 35654074 + 36228900 36246052 + 38975344 38992526 + 6480464 16461635;15489334;14702039;12477932;11752456;8889548;16751776 147184 Q8N816 ABBA01031821;AC090283;AI301318;AK097454;AK298616;AMYH01008385;AV649893;AW151726;BC015365;BG530583;BM667164;CD689247;CH471152;DB459363;DN920898;DQ573945;DQ585710;NG_033147;NM_001195386;NM_001195387;NM_145274 AAH15365;BAC05059;BAG60796;EAW60682;EAW60683;EAW60684;NP_001182315;NP_001182316;NP_660317;Q8N816 Hs.353163;Hs.744059 1663795;1670031;1683397;1742063;1742315;1742411;1742441;1757271;1850425;1856183;2107255;2144235 DXS8276;GDB:190618;GDB:196333;GDB:196685;GDB:196997;KRT10_7811;RH47583;RH75831;SHGC-144686;SHGC-33438;STS-M77663;STS-X14487 MGC21518 OTTHUMP00000164945;OTTHUMP00000164946;transmembrane protein 99 protein-coding ENSG00000167920 28305 14478 VALIDATED 6893191 TMLHE-AS1 TMLHE antisense RNA 1 X 154696201 154723771 + 100507404 ABBA01029146;AK098761;AMYH01023333;AMYH01023334;AMYH01023335;AMYH01023336;AMYH01023337;AMYH01023338;AMYH01023339;AMYH01023340;AMYH01023341;AMYH01023342;BC042086;BX276110;BX571846;NR_039991;XR_133567 BAC05406 Hs.638368;Hs.659432 1694640;1703066;1729117 AU048852;G43495;sWXD2469 miscrna ENSG00000224533 44261 VALIDATED 1321873 TMEM9B TMEM9 domain family, member B 11 11 11 p15.3 9088602 9105737 - 8925416 8942565 - 8968840 8985989 - 6480464 12761501;16303743;15489334;15340161;12975309;12477932;11528127;20951001;16169070;21890473;21906983;19322201;22505724 56674 E9PMI7;E9PR12;Q543A1;Q7Z649;Q9NQ34 AB097017;ABBA01061202;ABBA01061203;AC026894;AJ400877;AK074677;AK300712;AK310723;AK313065;AK316216;AMYH01003377;AY359069;BC015884;BC040124;CH471064;CQ783570;CQ834260;NM_020644 AAH15884;AAH40124;AAQ89428;BAC11131;BAC77370;BAG35894;BAH13331;BAH14587;CAB92287;CAF86738;CAH05345;EAW68607;EAW68608;EAW68609;NP_065695;Q9NQ34 Hs.501853 1658190;1671167;1679652;1754715;2123256 D11S1166;RH99267;SHGC-133076;SHGC-64039;WI-15442 C11orf15 OTTHUMP00000230696;transmembrane protein 9B protein-coding ENSG00000175348 1168 12603 PROVISIONAL 1604448 TMIGD1 transmembrane and immunoglobulin domain containing 1 17 17 17 q11.2 25505000 25522699 - 25667492 25685191 - 28643366 28661065 - 6480464 14702039;12975309;12477932 388364 Q6UXZ0 ABBA01015001;AC087644;AK172838;AK290266;AMYH01008300;AY358153;BC137201;BC137202;CH471159;NM_206832 AAI37202;AAI37203;AAQ88520;BAD18803;BAF82955;EAW51226;NP_996663;Q6UXZ0 Hs.371005 1687033;1728683;2122391;2148655 AFMA184ZD9;G17979;G63633;RH92740 TMIGD;UNQ9372 AWKS9372;transmembrane and immunoglobulin domain-containing protein 1 protein-coding ENSG00000182271 32431 18274 PROVISIONAL 1343102 TMIE transmembrane inner ear This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009] 3 3 p21 46717827 46727205 + 46742823 46752413 + 1599441;1599439;1580863;6480464;7240710 1683261 16389551;15489334;14727813;12477932;12145746;12140191;8944017;8889548;8681137;8593615;19438934;20206386;20301607 259236 Q8NEW7 ABBA01024712;AC134504;AMYH01013132;AY081842;BC126258;BC126260;BM696323;CH471055;F22661;NG_011628;NM_147196 AAI26259;AAI26261;AAL89820;EAW64781;NP_671729;Q8NEW7 Hs.185777 2107679 TMIE__5098 DFNB6 OTTHUMP00000195079;transmembrane inner ear expressed protein;transmembrane inner ear protein APPROVED protein-coding ENSG00000181585 30800 06252 600971;607237 REVIEWED 1606734 TMIGD2 transmembrane and immunoglobulin domain containing 2 19 19 19 p13.3 4231605 4241808 - 4243229 4253428 - 4292224 4302428 - 6480464 15489334;12975309;12477932;22419821 126259 Q96BF3 ABBA01056081;AC008616;AMYH01009329;AY358964;BC015655;BU629751;CH471139;HQ452865;HQ452866;NM_001169126;NM_144615 AAH15655;AAQ89323;AED88282;AED88283;EAW69239;EAW69240;NP_001162597;NP_653216;Q96BF3 Hs.263928 IGPR-1;IGPR1;MGC23244 immunoglobulin and proline-rich receptor 1;immunoglobulin-containing and proline-rich receptor 1;transmembrane and immunoglobulin domain-containing protein 2;transmembrane and immunoglobulin domain-containing protein 2 variant 2;transmembrane and immunoglobulin domain-containing protein 2 variant 3 protein-coding ENSG00000167664 28324 14487 614715 VALIDATED 732153 TMF1 TATA element modulatory factor 1 3 3 p21-p12 69151668 69184174 - 69068978 69101484 - 1580863;6480464 18305892;1409643;10428808;18029348;19330832;17698061;16964243;16713569;15128430;14702039;12477932;12165860;12044884;9742951;8889548;19596235;20379614;15604093;21139048;22558309;20195357;23239882 7110 F8WF45;P82094;Q6PII6 AB209109;ABBA01030897;ABBA01030898;AC109587;AK021741;AK096365;AK299020;AK312697;AL040699;AMYH01013260;BC008454;BC033771;BC117418;BC126123;BC143840;BU689613;CH471055;L01042;NM_007114 AAD54608;AAH33771;AAI17419;AAI26124;AAI43841;BAD92346;BAG61099;EAW65468;EAW65469;NP_009045;P82094 Hs.267632 1774146;1775193;1850664;1851622;2116972;2125741;2179919;5015881;5037552;5092726 A005U17;A007F29;D3S4180;D8S2279;G32291;GDB:335751;RH48041;SGC44384;SHGC-44384;SHGC-77086 ARA160;TMF OTTHUMP00000213419;TATA element modulatory factor;androgen receptor coactivator 160 kDa protein;androgen receptor-associated protein of 160 kDa protein-coding ENSG00000144747 11870 03081 601126 VALIDATED 736195 TMLHE trimethyllysine hydroxylase, epsilon This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] X X X q28 154903691 154996305 - 154372967 154495791 - 154718672 154842622 - 1580863;6480464;6907045 11431483;17408883;16381901;15772651;15754339;15489336;15489334;14702039;12477932;11256614;11076863;8908511;16344560;21890473;21865298;22566635;23092983 55217 Q9NVH6 ABBA01028611;ABBA01028612;ABBA01028613;ABBA01028614;ABBA01028615;ABBA01028616;ABBA01028617;ABBA01028618;ABBA01028619;AF373407;AK001589;AK291694;AK304830;AK310667;AMYH01023337;AMYH01023338;AMYH01023339;AMYH01023340;AMYH01023341;AMYH01023342;BC009673;BC025269;BX276110;BX323057;BX571846;CH471247;CR457265;DA323339;DB174485;NG_021318;NM_001184797;NM_018196 AAH25269;AAL01871;BAA91775;BAF84383;BAG65575;CAG33546;CAL38074;EAW55873;EAW55874;EAW55875;NP_001171726;NP_060666;Q9NVH6 Hs.133321 1681374;1708948;2107681;2180727;2184834;5122608 RH46875;RH65379;RH78991;RH92996;SHGC-79530;TMLHE__5099 AUTSX6;BBOX2;FLJ10727;TMLD;TMLH;TMLHED;XAP130 OTTHUMP00000024255;OTTHUMP00000031823;TML hydroxylase;TML-alpha-ketoglutarate dioxygenase;butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2;epsilon-trimethyllysine 2-oxoglutarate dioxygenase;epsilon-trimethyllysine hydroxylase;trimethyllysine dioxygenase, mitochondrial APPROVED protein-coding ENSG00000185973 18308 06743 300777;300872 REVIEWED 1353581 TMPOP1 thymopoietin pseudogene 1 6 6 p21.33 30541199 30543793 + 30434002 30436646 + 100129772;387098 ABBA01038043;ABBA01038044;ABBA01038045;AL662822;AL662873;AL844213;AMYH01016204;BX927143;BX936375;CR762481;NG_027533 Em:AB014080.3;TMPOL1 pseudo 21364 INFERRED 1605431 TMOD1 tropomodulin 1 This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009] 9 9 q22.3 99326258 99403351 + 100263462 100364025 + 6480464 16434395;16297372;15489334;15164053;15095301;14741341;14702039;12477932;11964245;11054557;11016930;10871039;8954802;8661028;8262158;8002995;7962203;1370827;16344560;8619474;9110174;18850735;19616115;23251661;23398456 7111 P28289;Q5T7W3 ABBA01042930;ABBA01042931;AF131836;AF288155;AK095748;AK314533;AL162385;AMYH01021553;AMYH01021554;AMYH01021555;BC002660;BU783086;CH471105;DA015088;M77016;NM_001166116;NM_003275 AAA61224;AAG30124;AAH02660;ABM83953;ABM87270;BAG37124;BAG53119;EAW58845;EAW58846;NP_001159588;NP_003266;P28289 Hs.404289;Hs.723236 1650866;1775883;1787192;1850950;2107683;2153885;5017847 D9S1702;RH78518;SHGC-85067;STS-M77016;TMOD1;TMOD1__5100;WI-11414 D9S57E;ETMOD;TMOD E-Tmod;OTTHUMP00000021743;OTTHUMP00000021744;e-tropomodulin;erythrocyte tropomodulin;tropomodulin-1 APPROVED protein-coding ENSG00000136842 11871 01838 190930 REVIEWED 1351754 TMOD2 tropomodulin 2 (neuronal) This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008] 15 15 15 q21.2 28937177 29001954 + 49831102 49889635 + 52043758 52108560 + 1580863;6480464 10662549;16344560;15489334;15095301;12477932;8886980;14702039;17207965;21832049;22939629 29767 G5EA42;H0YMA2;Q9NZR1 AB073658;ABBA01039080;AC026770;AC090971;AF177169;AK021496;AK025346;AK124907;AK292733;AK293823;AMYH01006647;BC036184;BC041940;BC064961;CH471082;DA808222;NM_001142885;NM_014548 AAF31668;AAH36184;AAH64961;ADQ32555;BAF85422;BAG57227;EAW77428;EAW77429;NP_001136357;NP_055363;Q9NZR1 Hs.513734 1337284;1678579;1713487;1752365;1794816;1794818;1794820;1794822;1794824;1794826;1794828;1794830;2130229;2138876;5015619;5037552 BCD1503;D11S3114;D15S220;D8S2279;PMC59888P1;PMC59888P2;PMC59888P3;PMC59888P4;PMC59888P5;PMC59888P6;PMC59888P7;PMC59888P8;RH120227;RH93728;SHGC-106273;SHGC-53022 MGC39481;N-TMOD;NTMOD OTTHUMP00000162617;neuronal tropomodulin;tropomodulin-2 APPROVED protein-coding ENSG00000128872 11872 04237 602928 REVIEWED 6769096 TMPO-AS1 TMPO antisense RNA 1 12 q23.1 98906751 98910004 - 12477932;14702039 100128191 ABBA01053287;AC013418;AK054586;AMYH01004689;BC037346;BC067862;BI828425;NG_021393;NR_027157 Hs.594042 1674027;1794146 PMC310794P38;RH15720 APPROVED miscrna ENSG00000257167 44158 VALIDATED 3103405 TMPRSS11BNL TMPRSS11B N-terminal like 4 4 q13.2 66516481 66543144 - 69049802 69051947 - 401136 B3KVV0 ABBA01022908;AC098799;AK123556;AMYH01014250;AMYH01014251;AMYH01014252;AMYH01014253;CH471057;NM_001129907;NR_104048 B3KVV0;BAG53912;EAX05568;NP_001123379 Hs.652046 1719893 RH123639 FLJ41562 TMPRSS11B N-terminus-like protein;transmembrane protease serine 11B-like protein APPROVED pseudo ENSG00000226894 37262 VALIDATED 3340240 TMPRSS11CP transmembrane protease, serine 11C, pseudogene 4 4 66094006 66102544 - 68631632 68640172 - 6480464 15328353;18215125;19487698;20210993;9847074 100381178 ABBA01022901;AC079880;AMYH01014248;NG_016735 1338279 D4S3018 pseudo 31934 INFERRED 1319001 TMOD4 tropomodulin 4 (muscle) 1 1 1 q12 124257754 124263838 - 149409087 149415171 - 151142463 151148547 - 1580863;6480464 10662549;15489334;14702039;12477932;11716785;10497209;11016930;17207965;21832049 29765 B7Z6N9;K7EQW4;K7ES04;Q5JR82;Q9NZQ9 ABBA01049380;ABBA01049381;AF165217;AF177173;AF321183;AF393375;AK092700;AK300675;AK313280;AL592424;AMYH01001386;BC017810;BX647346;CH471121;DC385872;NM_013353 AAF01277;AAF31672;AAH17810;AAK06765;AAM73676;ADQ32088;BAC03951;BAG36088;BAH13325;EAW53463;EAW53464;EAW53465;NP_037485;Q9NZQ9 Hs.709681 1746729;1773631;2106705;2130889;5124645 Cda0ge12;RH12845;RH135488;RH91093;TCFL1__5229 DKFZp779I0852;SK-TMOD OTTHUMP00000014288;actin-capping protein;skeletal muscle tropomodulin;tropomodulin-4 protein-coding ENSG00000163157 11874 16164 605834 VALIDATED 1322266 TMOD3 tropomodulin 3 (ubiquitous) 15 15 15 q21.1-q21.2 29015228 29097738 + 49909181 49989142 + 52121825 52204335 + 1580863;6480464 10662549;17928307;17081983;17012745;15489334;15095301;12707310;12477932;16009940;19322201;20473970;18029348;19615732;8889548;19321449;22863883;21674799;22939629;20360068;21900206;19471022;21139048;21890473;21906983;22158085;17620599;20876399 29766 H0YKU1;H0YNJ8;H0YNU8;Q9NYL9 ABBA01039077;ABBA01039078;ABBA01039079;ABBA01039080;AC090971;AF177171;AF237631;AK025704;AK310344;AK312569;AL137543;AMYH01006647;BC020542;BM975185;BX647277;NM_014547 AAF31670;AAF45299;AAH20542;BAG35464;CAB70801;CAI46036;NP_055362;Q9NYL9 Hs.4998 1644581;1647025;1699644;1706776;1751295;1774918;1855458;2109983;2120374;2130946;2171339;5015861;5109281;7185938 D10S16;D15S1203;D1S1425;RH103426;RH45657;RH71182;SGC44370;SHGC-105181;SHGC-36394;SHGC-80857;STS-N36078;TMOD3_9585;WI-13716 UTMOD OTTHUMP00000162615;tropomodulin-3;ubiquitous tropomodulin protein-coding ENSG00000138594 11873 10389 605112 VALIDATED 1641973 TMPRSS11E2 transmembrane protease, serine 11E2 4 q13.2 69465108 69515259 + 9847074 729884 AC019173;AC074378;AC140484;AK292787;NM_001099662 A6NL71;BAF85476;NP_001093132 Hs.645299 protein-coding 33592 1602625 TMPRSS11F transmembrane protease, serine 11F 4 4 4 q13.2 66381225 66457903 - 68601511 68678182 - 68918916 68995587 - 6480464 16344560 389208 Q6ZWK6 ABBA01022908;AC096727;AC107054;AK122625;AMYH01014249;AMYH01014250;CH471057;DA441628;NM_207407 BAC85495;EAX05563;NP_997290;Q6ZWK6 Hs.677557 2121096 SHGC-31163 FLJ16046 OTTHUMP00000159644;airway trypsin-like protease 4;transmembrane protease serine 11F protein-coding ENSG00000198092 29994 16908 VALIDATED 2304158 TMPPE transmembrane protein with metallophosphoesterase domain 3 3 3 p22.3 33074968 33081352 - 33106921 33113297 - 33131908 33138293 - 12477932 643853 Q6ZT21 ABBA01024911;AC112211;AK126979;AK128242;AMYH01013067;AW103036;BC136872;BC136873;NG_009005;NM_001039770;NM_001136238 AAI36873;AAI36874;BAC86774;BAC87349;NP_001034859;NP_001129710;Q6ZT21 Hs.443031 2154233 RH69516 FLJ45032;FLJ46376 OTTHUMP00000208608;OTTHUMP00000208609;transmembrane protein with metallophosphoesterase domain protein-coding ENSG00000188167 33865 VALIDATED 1605232 TMPRSS11A transmembrane protease, serine 11A 4 4 4 q13.2 66238428 66291616 - 68458614 68511827 - 68776019 68829232 - 6480464 19394797;19052822;17971341;15328353;12838346;12477932;15095404;19826048;21288367;21517269 339967 A8KA85;B5MDI9;H0YAL9;J3KNQ8;Q6ZMR5 ABBA01022903;AC096653;AC096727;AF071882;AK131518;AK292950;AMYH01014249;AY498712;BC111796;BN000133;CH471057;NM_001114387;NM_182606 AAD41463;AAI11797;AAS78642;BAD18660;BAF85639;CAD67985;EAX05560;NP_001107859;NP_872412;Q6ZMR5 Hs.450110 1696332;1756817;2133368;2182693;2186880 SHGC-143962;SHGC-16352;SHGC-50193;SHGC-67273;SHGC-77762 ECRG1;MGC133183 OTTHUMP00000159638;OTTHUMP00000219019;OTTHUMP00000219020;airway trypsin-like protease 1;epidermal type II transmembrane serine protease;epidermal type-II transmembrane serine protease;esophageal cancer-susceptibility gene 1 protein;transmembrane protease serine 11A protein-coding ENSG00000187054 27954 07123 611704 VALIDATED 5490840 TMPRSS11GP transmembrane protease, serine 11G, pseudogene 4 4 4 q13.2 66319786 66325682 - 68540066 68563556 - 68857530 68863157 - 19487698;20210993 644759 ABBA01022906;AC096727;AMYH01014249;EG328686;NR_033737 Hs.646883 2131171 SHGC-52443 pseudo ENSG00000229009 42983 PROVISIONAL 1606722 TMPRSS11B transmembrane protease, serine 11B 4 4 4 q13.2 66551717 66570749 - 68774966 68794004 - 69092371 69111412 - 6480464 17975119;16381901;15489336;12477932;11230166;11076863;19023099 132724 Q86T26 ABBA01022908;AC098799;AK290904;AK310210;AL833167;AMYH01014253;AMYH01014254;BC126195;BX537945;CH471057;NM_182502 AAI26196;ADR83164;BAF83593;CAD91168;CAD97913;CAL38608;EAX05569;NP_872308;Q86T26 Hs.407122 1340009;2124363;2134413 D4S2387;D4S2391;D4S2616 DKFZp686L1818 OTTHUMP00000159636;airway trypsin-like protease 5;transmembrane protease serine 11B protein-coding ENSG00000185873 25398 13219 VALIDATED 735785 TMPO thymopoietin The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010] 12 12 q22 97433540 97466866 + 98909351 98944157 + 1580863;6480464;7240710 8530026;17284516;18403046;17364180;17227891;17213199;17081983;16760672;16713569;16606692;16247757;16083285;15546916;15489334;15302935;12950172;12538639;12477932;12475961;11591818;11500367;11435115;11034899;10984438;10806084;10430029;10393804;9707448;9490046;9461618;9110174;8743987;8619474;7703909;7517549;6364989;2158125;302007;8324822;19913121;20628086;20562859;16344560;17474147;18029348;19929986;20237496;17207965;16129885;19394292;19454010;16196087;17558393;22990118;22939629;17314511;19135240;19928837;20360068;21987572;21990273;19471022;21907836;22145905;21139048;21549307;21693764;21890473;21906983;21252943;21679440;20301486;17620599;19727227;20462248;23182705;23184937;21963094;22113938;22751105;23000965;22268729;22505724 7112 A2T926;G5E972;H0YJH7;P42166;P42167;Q59G12 AA992204;AB209297;ABBA01053286;ABBA01053287;AC013418;AF070631;AF113682;AI055921;AK299708;AK315221;AMYH01004689;BC050383;BC053675;BG676381;BM802949;BM991833;BP423544;BQ232508;BU932961;CH471054;DB239672;EF028063;NG_021393;NM_001032283;NM_001032284;NM_003276;S76736;U09086;U09087;U09088;U18269;U18270;U18271 AAB33958;AAB60329;AAB60330;AAB60331;AAB60433;AAB60434;AAB60435;AAC25390;AAF29583;AAH53675;ABL61272;ADQ32571;BAD92534;BAG61609;EAW97589;EAW97590;EAW97591;EAW97592;EAW97593;EAW97594;NP_001027454;NP_001027455;NP_003267;P42166;P42167 Hs.11355 1643927;1674027;1686824;1714799;1794146;1794148;1854906;2119844;2132858;2176288;2181958;2218098;5015619;5015959;5016596;5024039;5037552;5111885;5127017;5491914;7185326 D10S2448;D11S3114;D12S1849;D16S325;D8S2279;GDB:631802;PMC310794P38;PMC310794P39;RH11218;RH120066;RH15720;RH44347;RH47529;RH48814;SHGC-58801;STS-T25858;TMPO_3873;Tmpo;WI-11271;WI-18798 CMD1T;LAP2;LEMD4;MGC61508;PRO0868;TP LEM domain containing 4;OTTHUMP00000243237;OTTHUMP00000243238;OTTHUMP00000243239;OTTHUMP00000243240;OTTHUMP00000244152;OTTHUMP00000244153;TP alpha;TP beta/gamma;lamina-associated polypeptide 2;thymopoietin;thymopoietin-related peptide isoform alpha;thymopoietin-related peptide isoforms beta/gamma APPROVED protein-coding ENSG00000120802 11875 01777 188380;613740 REVIEWED 1606328 TMPRSS11D transmembrane protease, serine 11D This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008] 4 4 4 q13.2 66148993 66212123 - 68369189 68432311 - 68686594 68749716 - 6480464 9565616;16973594;16336275;16199437;15489334;15102084;14702039;12630574;12477932;11326745;9070615;21994442;22245154;22023801;22558251;23192872 9407 B4DL57;H0Y8K7;O60235 AB002134;ABBA01022903;AC079880;AC096653;AK094054;AK290289;AK296853;AL603214;AMYH01014248;BC033295;BC125195;BC125196;BX649007;CH471057;NM_004262 AAI25196;AAI25197;AAY40996;BAA28691;BAF82978;BAG59419;EAX05559;NP_004253;O60235 Hs.132195 2108133 HAT_8933 HAT;MGC150587;MGC150588 OTTHUMP00000159635;airway trypsin like protease;airway trypsin-like protease;transmembrane protease serine 11D APPROVED protein-coding ENSG00000153802 24059 05642 605369 REVIEWED 1606302 TMPRSS11E transmembrane protease, serine 11E 4 4 4 q13.2 66773145 66823292 + 68995762 69045917 + 69313167 69363322 + 6480464 17388811;16344560;15489334;15328353;12975309;12477932;11161383;15815621;9847074 28983 H0Y9G7;Q9UL52 ABBA01022911;AC019173;AC074378;AC079749;AC140484;AF064819;AK292787;AK313859;AMYH01014256;AY359017;BC113412;BC113414;CH471057;DB013544;NM_014058 AAF04328;AAI13413;AAI13415;AAQ89376;AAY40995;AAY41025;ADR82988;BAF85476;BAG36587;EAX05573;NP_054777;Q9UL52 Hs.201877 1706528;2218478 DESC1_4696;SHGC-81237 DESC1;FLJ75331;FLJ94490;MGC141972;MGC141974;TMPRSS11E2 OTTHUMP00000218195;serine protease DESC1;transmembrane protease serine 11E;transmembrane protease serine 11E2;transmembrane protease, serine 11E-like;transmembrane protease, serine 11E2 protein-coding ENSG00000087128 24465 09912 610399 VALIDATED 6770075 TMPRSS4-AS1 TMPRSS4 antisense RNA 1 11 117886487 117957508 - 100526771 AB231754;AB231755;AB231756;AB231757;AB231758;ABBA01039715;ABBA01039716;AMYH01004067;AP000665;AP002962;NR_038318 BAE46894 Hs.627426 APPROVED miscrna 44179 VALIDATED 1606922 TMPRSS12 transmembrane (C-terminal) protease, serine 12 12 12 12 q13.12 50038174 50083137 + 49522968 49567934 + 51236701 51281667 + 6480464 12477932;17207965;20379614 283471 F8WBX2;Q86WS5 AA884376;ABBA01031588;ABBA01031589;AC008121;AC013244;AMYH01004458;BC035123;BC048112;CH471111;DB458497;NM_182559 AAH48112;ADQ32512;EAW58152;EAW58153;NP_872365;Q86WS5 Hs.125571 MGC57341 OTTHUMP00000241245;OTTHUMP00000241246;transmembrane protease serine 12;transmembrane protease, serine 12 APPROVED protein-coding ENSG00000186452 28779 07133 VALIDATED 1604778 TMPRSS13 transmembrane protease, serine 13 This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 11 11 11 q23 114929190 114957960 - 117276570 117305325 - 117771356 117800168 - 6480464 11267681;17981585;16554811;14702039;12477932;20219906;20977675;20811636 84000 E9PIJ5;E9PR79;E9PRA0;F8WAJ3;J3KQC6;Q1RMF8;Q9BYE2 AB048796;AB048797;ABBA01039718;AK027798;AK300283;AMYH01004066;AMYH01004067;AP002962;AW014913;AY190317;BC018715;BC114928;CH471065;DC381405;NG_030336;NM_001077263;NM_001206789;NM_001206790;NM_001244995 AAI14929;AAO38062;BAB39741;BAB39742;BAB55376;BAG62041;EAW67338;EAW67339;EAW67340;EAW67341;EAW67342;NP_001070731;NP_001193718;NP_001193719;NP_001231924;Q9BYE2 Hs.266308 1657848;1681538 RH68429;RH98699 MSP;MSPL;MSPS;TMPRSS11 OTTHUMP00000234699;OTTHUMP00000234700;OTTHUMP00000234701;OTTHUMP00000234702;OTTHUMP00000234703;membrane-type mosaic serine protease;mosaic serine protease;transmembrane protease serine 13;transmembrane protease, serine 11 APPROVED protein-coding ENSG00000137747 29808 07493 610050 REVIEWED 1322295 TMPRSS15 transmembrane protease, serine 15 This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008] 21 21 q21.1 18563561 18697841 - 19641433 19775970 - 1599212;1580863;6480464 11719902 8052624;18062964;16344560;15489334;12907431;12477932;11913964;10830953;7718557;4322674;2093478;1147667;19924134;20379614;23568457;23185382;22571433;22488687 5651 E9PG70;P98073 ABBA01057134;ABBA01057135;AF246125;AI279666;AL078474;AL163218;AMYH01012152;AP000455;AP000456;BC111749;BM015908;CH471079;CS223379;DB242953;NG_012207;NM_002772;U09860;Y19124 AAC50138;AAF97778;AAI11750;CAB65555;CAB90392;CAJ46929;EAX10016;EAX10017;NP_002763;P98073 Hs.149473 1340663;1681404;1690580;1695626;1713207;1731349;1754495;1853530;2128790;2217856 D21S1433;D21S1821;D21S406;G34555;G48503;PRSS7_3848;RH120391;RH17989;SHGC-132769;SHGC-6928 ENTK;MGC133046;PRSS7 OTTHUMP00000083248;enterokinase;enteropeptidase;protease, serine, 7 (enterokinase);serine protease 7;transmembrane protease serine 15 APPROVED protein-coding ENSG00000154646 9490 05972 606635 REVIEWED 1354092 TMPRSS2 transmembrane protease, serine 2 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] 21 21 q22.3 41758351 41801948 - 42836478 42880085 - 1580863;2324904;6480464 18338334 8125298;21677539;9325052;19190343;19158246;19147579;19029822;18922926;18694509;18676740;18583469;18562527;18519767;18483239;18474293;18385909;18172298;18065961;17804708;17654723;17632455;17584912;17390040;17367471;17032499;16973594;16820092;16585160;16575875;15537383;15489334;15342556;15065083;12477932;11414763;11322890;11245484;11169526;10830953;10485450;18519769;22313860;20631123;20442300;18029348;19242826;19396154;19465903;19494719;19584163;19597533;19649210;19664128;19762545;19933109;20068566;20118910;21036922;17207965;20800881;21040948;21068237;20382709;20878952;21123387;21169414;21325420;20798944;21377967;21584900;22674214;22993300;21499238;21676887;21680704;21743959;23536651;22736790;21743434;21802835;22076164;22222211;21731703;22558251;21937078;22860005;23352841;23447416;22930729;23192872 7113 C9J5Y1;C9JB05;C9JKZ3;O15393 AA904080;ABBA01044661;ABBA01044662;ABBA01044663;AF123453;AF270487;AF318374;AF329454;AK123948;AK222784;AK291813;AK296860;AK313338;AMYH01012263;AP001610;BC015819;BC035623;BC051839;BP276431;CH471079;DC382934;EU090249;HM245389;HM245390;NM_001135099;NM_005656;U75329 AAC51784;AAD37117;AAH51839;AAK29280;AAK53559;AAL55881;ADQ33108;BAD96504;BAF84502;BAG36142;BAH12445;EAX09596;EAX09597;EAX09598;EAX09599;NP_001128571;NP_005647;O15393 Hs.439309 1793992;1851727;2107685;2116154;2173414;5016478 D21S1876;G29032;GDB:434012;PMC310729P10;SHGC-87658;TMPRSS2_7892 FLJ41954;PP9284;PRSS10 OTTHUMP00000109259;OTTHUMP00000207916;OTTHUMP00000207917;epitheliasin;serine protease 10;transmembrane protease serine 2 APPROVED protein-coding ENSG00000184012 11876 03637 602060 REVIEWED 1319995 TMPRSS9 transmembrane protease, serine 9 19 19 19 p13.3 2325619 2363578 + 2340784 2377086 + 2389784 2426086 + 6480464 16872279;14702039;12886014;20379614;23229837 360200 Q7Z410 AB109390;ABBA01002729;ABBA01002730;ABBA01002731;ABBA01002732;ABBA01002733;ABBA01002734;ABBA01002735;ABBA01002736;AC011522;AC011542;AJ488946;AJ488947;AK131261;AMYH01009282;AMYH01009283;CH471139;NM_182973 AAI40387;BAD18439;BAF02295;CAD35758;CAD35759;EAW69382;NP_892018;Q7Z410 Hs.465560 1772176;1793806 PMC291826P1;WI-11167 FLJ16193 polyserase 1;polyserase-1;polyserase-I;polyserine protease 1;transmembrane protease serine 9;transmembrane serine protease 9 protein-coding ENSG00000178297 30079 07124 610477 PROVISIONAL 5132516 TMSB10P1 thymosin beta 10 pseudogene 1 2 q37 236790761 236791171 - 100506723 ABBA01042568;AC079400;AMYH01011594;NG_029007;NG_030314 thymosin beta 10 pseudogene 1;thymosin beta-10-like pseudo 41949 INFERRED 6481548 TMSB10P2 thymosin beta 10 pseudogene 2 X 18359336 18359463 + 100873786 ABBA01071629;AMYH01022121;NG_032381;Z93023 pseudo 41950 INFERRED 732836 TMPRSS5 transmembrane protease, serine 5 This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. [provided by RefSeq, Jul 2008] 11 11 11 q 110711188 110729987 - 113063483 113082305 - 113558268 113577068 - 1580863;6480464 12484779;12477932;11741986;17918732 80975 F5GX83;F5GXT6;F5GYA3;F5H0U3;F5H2M3;F5H8D2;G5EA43;G5EA47;Q0P513;Q9H3S3 AB028140;ABBA01039782;ABBA01039783;ABBA01039784;AI056603;AK294313;AK295366;AL538140;AMYH01004039;AP002436;AP003402;BC028065;BC047222;BC121802;BC121803;CH471065;NM_030770 AAI21803;AAI21804;BAB20375;BAH11733;BAH12047;EAW67226;EAW67227;EAW67228;NP_110397;Q9H3S3 Hs.46720 1782438;2108965;2180981;2182290 RH78980;SHGC-155029;SHGC-37362;TMPRSS5_8101 MGC141886;MGC148044;SPINESIN OTTHUMP00000238209;OTTHUMP00000238210;OTTHUMP00000238211;OTTHUMP00000238212;OTTHUMP00000238213;adrenal mitochondrial protease;transmembrane protease serine 5 APPROVED protein-coding ENSG00000166682 14908 05995 606751 REVIEWED 1316154 TMPRSS6 transmembrane protease, serine 6 The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. [provided by RefSeq, Jul 2008] 22 22 q12.3 35791425 35829639 - 37461479 37499693 - 1580863;6480464;7240710 12149247;22509377;22628316;19084217;18976966;18603562;18449907;18408718;17981570;17575220;16533768;15489334;15461802;14702039;12975309;12784999;12477932;10591208;21150441;19377077;19592582;19708871;19818657;19820697;19820698;19820699;19862010;19880490;19907145;19853236;20587610;20232450;20738301;21149283;20937842;20704562;20858683;20927387;21208937;20964721;20966077;22761678;22581667;21724843;22893705;21622652;21873547;23144979;21618415;22301935;22265928;21785125;19357398;22323359;23238872;22858929;23222517;23263863;23293962;23293981;22885719;22765023;23433094 164656 B0QYB3;B0QYB6;Q8IXV8 ABBA01055459;ABBA01055460;AJ319876;AL022314;AMYH01012753;AY055383;AY055384;AY358398;BC039082;CH471095;CR456446;NG_012856;NM_153609 AAH39082;AAL16413;AAL16414;AAQ88764;CAC85953;CAG30332;CAK54475;CAK54774;EAW60141;EAW60142;EAW60143;NP_705837;Q8IU80 Hs.370885 2107687;2116212 TMPRSS6__5101;WI-16670 IRIDA OTTHUMP00000197780;OTTHUMP00000197781;OTTHUMP00000197782;matriptase-2;membrane-bound mosaic serine proteinase matriptase-2;transmembrane protease serine 6;type II transmembrane serine protease 6 2302756;2302758;2302765 MAMTS4_H;MAMTS5_H;MAMTS6_H APPROVED protein-coding ENSG00000187045 16517 10270 206200;609862 REVIEWED 1320861 TMPRSS3 transmembrane protease, serine 3 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] 21 21 q22.3 42665068 42689269 - 43791996 43816955 - 1599443;1580863;2325152;6480464;7240710 11137999;14695172 11068177;12393794;16780588;17981648;17551081;16344560;16169070;16021470;15489334;15447792;14702039;12975309;12920079;12477932;11907649;11462234;11424922;10830953;10825129;8651303;15361711;17918732;19117353;19170735;19888295;20146813;21117948;21534946;21786053;21906983;22382023;22446619;21963094;21988832 64699 B7WPR2;P57727;Q5USC7 AB038157;AB038158;AB038159;AB038160;ABBA01014172;ABBA01014173;AF201380;AF267741;AI251446;AK131212;AK172842;AMYH01012267;AP001623;AY358458;AY633572;BC074846;BC074847;CH471079;DA643571;DB217517;NG_011629;NM_001256317;NM_024022;NM_032404;NM_032405;NR_046020 AAG37012;AAH74846;AAH74847;AAL56664;AAQ88823;AAT66641;BAB20077;BAB20078;BAB20079;BAB20080;BAD18806;EAX09564;EAX09565;EAX09566;EAX09567;EAX09568;NP_001243246;NP_076927;NP_115780;NP_115781;P57727 Hs.208600 1704762;5022651 D11S2921;SHGC-79665 DFNB10;DFNB8;ECHOS1;TADG12 OTTHUMP00000109343;OTTHUMP00000109344;OTTHUMP00000109345;OTTHUMP00000109346;OTTHUMP00000201222;serine protease TADG-12;serine protease TADG12;transmembrane protease serine 3;tumor-associated differentially-expressed gene 12 protein APPROVED protein-coding ENSG00000160183 11877 05696 601072;605511 REVIEWED 1312821 TMPRSS4 transmembrane protease, serine 4 This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115105578 115148408 + 117452937 117495768 + 117947727 117990558 + 1580863;6480464 10825129;18029348;19158246;17968309;15489334;15342556;14702039;12975309;12477932;8889548;22692880;17207965;20118200;20631123;22067904;21637307;22944691 56649 B7Z8C5;B7Z8X1;B7Z900;E5RIH1;E5RJR8;E7ERX8;E7ESG9;G3V124;H0YAX8;H0YBM5;Q9NRS4 ABBA01039715;AF179224;AF216312;AK172766;AK290361;AK296855;AK303173;AK304113;AK304215;AK308434;AMYH01004067;AP000665;AP002800;AY358530;BC004855;BC011703;BC012752;BE736425;BP220493;BU685753;CH471065;EF445038;NG_011858;NM_001083947;NM_001173551;NM_001173552;NM_019894 AAF31436;AAF74526;AAH04855;AAH11703;AAQ88894;ACA06088;ADQ32399;BAD18749;BAF83050;BAH12444;BAH13911;BAH14107;BAH14136;EAW67345;EAW67346;EAW67347;EAW67348;EAW67349;EAW67350;NP_001077416;NP_001167022;NP_001167023;NP_063947;Q9NRS4 Hs.161985 1709576;1755189;2110781 SHGC-142104;SHGC-85140;TMPRSS4_8068 CAPH2;MT-SP2;TMPRSS3 OTTHUMP00000225915;OTTHUMP00000225916;OTTHUMP00000225917;OTTHUMP00000225918;OTTHUMP00000225921;OTTHUMP00000233153;channel-activating protease 2;membrane-type serine protease 2;transmembrane protease serine 4;transmembrane serine protease 3;type II membrane serine protease APPROVED protein-coding 11878 05952 606565 REVIEWED 1312220 TMPRSS7 transmembrane protease, serine 7 3 3 3 q13.2 110157540 110199202 + 113241155 113282806 + 111758465 111800116 + 1580863;6480464 16641997;15489334;14702039;12838346;12477932 344805 F8WCZ2;G3V1W5;Q7RTY8 ABBA01061668;ABBA01061669;AC024887;AK131211;AMYH01013389;BC117322;BN000125;NM_001042575;NR_026734 AAI17323;BAD18401;CAD67577;NP_001036040;Q7RTY8 Hs.435490 2108581 TMPRSS7_8180 OTTHUMP00000211537;OTTHUMP00000211539;matriptase-3;transmembrane protease serine 7;transmembrane serine protease 7;type II transmembrane serine protease 7 protein-coding ENSG00000176040 30846 VALIDATED 6481516 TMSB4XP3 thymosin beta 4, X-linked pseudogene 3 7 29665480 29665617 + 100873877 AACC02000007;ABBA01056799;AC007276;AMYH01017142;CH236948;NG_032206 pseudo 38587 INFERRED 1605430 TMSB4XP4 thymosin beta 4, X-linked pseudogene 4 9 9 9 q34.11 101755238 101755977 + 130144155 130144894 + 131104433 131105053 + 7118 Q5T4B6 ABBA01043877;AL359091;AMYH01021744;NG_004715;NG_017057 2220634 UniSTS:486843 TMSL4 APPROVED pseudo 11886 10274 INFERRED 1353589 TMSB4XP5 thymosin beta 4, X-linked pseudogene 5 11 11 11 q12.3 60611989 60612510 - 63044447 63045084 - 63287903 63288424 - 7119 ABBA01003255;AMYH01003694;AP001591;NG_002996 TMSL5 APPROVED pseudo 11887 INFERRED 1605543 TMSB15B thymosin beta 15B X X X q22.2 103652955 103656318 + 103105749 103107219 + 103217200 103220563 + 6480464 19296525;17567946;14702039;12477932;12665801;15772651 286527 H3BU88;H3BUE5;P0CG34;P0CG35 ABBA01032846;ABBA01032847;ABBA01032848;AC234782;AK090973;AK291479;AK311771;AL034485;AMYH01022799;BC019900;BC029803;BC035660;BC054476;BC093093;BQ011701;CH471120;NM_194324;Z70227 BAF84168;BAG34714;EAX02764;NP_919305;P0CG35 Hs.56145;Hs.675540;Hs.709594 2184647;5095072 STS-H99198;TMSL8 MGC39900;Tbeta15b thymosin beta-15B;thymosin beta15b protein-coding ENSG00000158427 28612 17546 VALIDATED 1348395 TMSB4XP7 thymosin beta 4, X-linked pseudogene 7 X X X q23 114802652 114803238 + 114273673 114274354 + 114367476 114368062 + 2004759 7121 ABBA01053643;AL445164;AMYH01022853;NG_002997;NG_021299 1663134 DXS7310 TMSL7 APPROVED pseudo 11889 INFERRED 1343307 TMSB4XP8 thymosin beta 4, X-linked pseudogene 8 4 4 4 q22.1 89051102 89051735 - 91978659 91979292 - 91759636 91760266 - 2004759;21139048;21906983;19322201 7117 ABBA01063579;AC019188;AMYH01014392;NG_028923 1677190;2220478 RH91868;UniSTS:483400 TMSL3 OTTHUMP00000161564;OTTHUMP00000219612;OTTHUMP00000219613;thymosin beta-4-like protein 3 APPROVED pseudo 11885 10273 INFERRED 1602496 TMSB15A thymosin beta 15a X X X q21.33-q22.3 102207240 102210329 - 101655266 101658355 - 101768610 101771699 - 6480464 14702039;19296525;18754322;17888914;17567946;17388661;15772651;15489334;12665801;12477932;9039501;8946830;18452710;23079573 11013 P0CG34;P0CG35 ABBA01020941;AF086495;AL035609;AMYH01022791;BC000183;BG829126;BU599402;CH471190;D82345;NM_021992 AAH00183;BAA11556;EAW54739;NP_068832;P0CG34 Hs.56145 1646011;1678727 RH80772;SHGC-57323 TMSB15;TMSB15B;TMSL8;TMSNB;Tb15;TbNB NB thymosin beta;OTTHUMP00000023713;Thymosin beta-15B;thymosin beta-15A;thymosin, beta, identified in neuroblastoma cells;thymosin-like 8;thymosin-like protein 8 protein-coding ENSG00000158164 30744 06744 601587 VALIDATED 736781 TMSB4X thymosin beta 4, X-linked This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008] X X q21.3-q22 12903148 12905267 + 12993226 12995346 + 6480464 17567947;17495251;17495244;17495243;17200658;16956606;16949646;16515784;16423999;16364925;16272158;16010977;15565145;15466884;15311936;15235586;15163409;14702039;14592829;12962156;12852258;12477932;12163032;11812134;11311852;10848969;10777749;10611475;9647778;9381176;9194528;9153421;8630056;8617195;8252614;6838210;6548414;3500230;2998351;2677145;2004759;1999398;1584803;1330091;17967441;19337364;18519035;18094619;17984099;17600285;17600283;20161756;15698487;16169070;20128033;21314931;20691219;20566622;20821256;21109953;20975530;21106936;23045970;22944663;21514425;21742406;21332672;21213129;21496200;21900206;21890473;21906983;22004227;22145905;22652458;22505724;22328534 7114 A2VCK8;P62328;Q0P5T0 ABBA01071063;AC139705;AJ295158;AK055976;AK057827;AK311747;AMYH01022092;AV715954;BC001631;BC016732;BC022857;BC061586;BC062436;BC064954;BC070248;BC070249;BC083509;BC092437;BC101790;BC101792;BC104464;BC104465;BC104666;BC107789;BC128102;BC128103;BC139925;BC141975;BC141976;BC151215;BT007090;CH471074;M11948;M17733;NM_021109;X02493 AAA36745;AAH01631;AAH16732;AAH22857;AAH61586;AAH62436;AAH64954;AAH70248;AAH83509;AAH92437;AAI01791;AAI01793;AAI04465;AAI04466;AAI04667;AAI28103;AAI28104;AAI39926;AAI41976;AAI41977;AAI51216;AAP35753;BAG34690;CAA26323;CAC43317;EAW98810;EAW98811;EAW98812;EAW98813;EAW98814;NP_066932;P62328 Hs.437277 2127342;2220478;2220634;5109691;5113613 D9S1007E;G34979;SHGC-182;UniSTS:483400;UniSTS:486843 FX;PTMB4;TB4X;TMSB4 OTTHUMP00000022926;OTTHUMP00000022927;prothymosin beta-4;t beta-4;thymosin beta-4;thymosin, beta 4, X chromosome;thymosin, beta 4, X-linked APPROVED protein-coding ENSG00000205542 11881 02153 300159 REVIEWED 731359 TMSB10 thymosin beta 10 2 2 p11.2 84986274 84987310 + 85132763 85133799 + 6480464 18789485;19337364;19194824;21733645;22161024;22623951;16916647;16786322;16012174;15665289;15489334;15254683;14741341;12914774;12481941;12477932;11527208;11472367;10487837;8425765;3365256;2169566;2071228;1744129;1627460;1582498;21314931;20836742;22939629;21139048;21890473;21906983;22038593;21044950 9168 P63313 ABBA01075727;AC022210;AK130949;AK311952;AMYH01010493;AY453400;BC016025;BC016731;BC107889;CH471053;M20259;M92381;M92383;NM_021103;S54005 AAA36744;AAA36746;AAB25225;AAC41691;AAH16025;AAH16731;AAS47517;AAY24191;ACE86535;ACE86919;ACE87214;ACE87606;BAG34892;EAW99547;EAW99548;NP_066926;P63313 Hs.446574 2116400;5017728 G06175;TMSB10 MIG12;TB10 OTTHUMP00000160498;migration-inducing gene 12;migration-inducing protein 12;thymosin beta-10 protein-coding ENSG00000034510 11879 01779 188399 VALIDATED 1349163 TMSB4XP1 thymosin beta 4, X-linked pseudogene 1 1 1 1 p34.2 41247474 41248020 - 42738026 42738772 - 42965452 42966088 - 12477932;21906983 7115 ABBA01023132;AL445669;AMYH01000550;BC101199;BC101200;NG_004714 Hs.655548 2220556 UniSTS:484739 TMSL1 APPROVED pseudo 11883 10271 INFERRED 1352522 TMSB4XP2 thymosin beta 4, X-linked pseudogene 2 2 2 2 p25.3 3673816 3674353 - 3642587 3643324 - 3664728 3665350 - 12477932;2004759;21906983 7116 ABBA01006102;AC010907;AMYH01010072;BC104196;BC104197;BC113076;NG_004719;NG_031954 Hs.732552 2220478;2220672 UniSTS:483400;UniSTS:490061 MGC125884;MGC125885;TMSL2 APPROVED pseudo 11884 10272 INFERRED 1605429 TMSB4XP6 thymosin beta 4, X-linked pseudogene 6 20 20 20 q13.13 46161075 46161730 - 48890316 48890771 - 49456748 49457364 - 6480464 2004759;12477932;21906983 7120 ABBA01052789;AL133228;AMYH01011976;BC112282;NG_006508 Hs.381178 2220552 UniSTS:484435 TMSB4L;TMSL6;dJ1071L10.1 APPROVED pseudo 11888 10275 INFERRED 1354108 TMSB4Y thymosin beta 4, Y-linked This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008] Y Y Y q11.221 2798153 2800610 + 14324841 14327298 + 15815447 15817904 + 1580863;6480464 8838802;19369144;16189514;15557202;15489334;12815422;12477932;9847074;9381176;8416954;21044950 9087 O14604 ABBA01065493;AC006371;AF000989;BC022482;BC119763;BC119764;CH471155;NM_004202 AAC51836;AAD54509;AAI19764;AAI19765;EAW91614;NP_004193;O14604 Hs.159201 1686955;1856845;2108583;2113584;2188833;5020687;5021646 G34981;G65843;G65844;RH45846;TMSB4Y-2;TMSB4Y_8894;sY1230 MGC26307;TB4Y OTTHUMP00000034560;thymosin beta-4, Y isoform;thymosin beta-4, Y-chromosomal;thymosin, beta 4, Y chromosome APPROVED protein-coding ENSG00000154620 11882 02458 400017 REVIEWED 1605852 TMTC2 transmembrane and tetratricopeptide repeat containing 2 12 12 12 q21.31 82748495 83195421 + 81605065 82052196 + 83080934 83528065 + 6480464 11230166;11256614;18519826;16381901;15489336;15489334;14702039;12477932;22542470;11076863;21145461;20662065;19386601;19625618;20379614;22219177 160335 F8VRQ2;F8VSH2;Q8N394 ABBA01053458;ABBA01053459;ABBA01053460;ABBA01053461;ABBA01053462;ABBA01053463;ABBA01053464;ABBA01053465;ABBA01053466;AC079595;AC090667;AC090680;AC091214;AC117375;AK074634;AK299771;AK315285;AL834509;AMYH01004624;AMYH01004625;AMYH01004626;AX795392;AX795394;BC071614;BC093852;BC093854;BC098572;BC143378;CH471054;NM_152588 AAH93852;AAH93854;BAC11102;BAG37694;BAH13125;CAD39165;CAE48265;CAE48266;CAL38019;EAW97384;EAW97385;NP_689801;Q8N394 Hs.577775 1336980;1674506;1695606;1696918;1703320;1705286;1718427;1720051;1721143;1746833;1857732;1857977 D12S1670;D12S1981;G59406;G64859;RH101927;RH122415;RH123822;RH68611;SHGC-68374;SHGC-68557;SHGC-78600;STS-M79221 DKFZp762A217;IBDBP1 IBDBP1 transcript 2;IBDBP1, transcript 1;OTTHUMP00000241962;OTTHUMP00000241964;OTTHUMP00000241965;transmembrane and TPR repeat-containing protein 2 protein-coding ENSG00000179104 25440 13230 PROVISIONAL 1605326 TMTC1 transmembrane and tetratricopeptide repeat containing 1 12 12 12 p11.22 34799099 35083077 - 29545024 29828959 - 29653746 29937692 - 6480464 12477932;15489334;14702039;19913121;20628086;20445134;17903295;20379614;20877624;22885689 83857 F8VTQ9;F8VXU8;H0YIB9;Q8IUR5 ABBA01068077;ABBA01068078;ABBA01068079;ABBA01068080;ABBA01068081;AC009320;AC009510;AC012151;AC022078;AF319520;AF433169;AK022989;AK055962;AK123619;AK127297;AL832328;AMYH01004358;AMYH01004359;BC007383;BC017984;BC028716;BC039460;BC042083;BG413338;CH471094;GQ865601;NM_001193451;NM_175861 AAH28716;AAH42083;AAK32121;AAQ04260;ACX30004;BAB71057;BAC86923;BAG53923;EAW96601;NP_001180380;NP_787057;Q8IUR5 Hs.401954 1337537;1653786;1661861;1677384;1680182;1690165;1690242;1691148;1694604;1725923;1726101;1726127;1746487;1756003;1856135;1856358;2106429;2128560;2167410;2176095;2177946;7183824 ARG99__4354;D12S1225E;D12S1457;D12S1988;D12S2005;D12S333;G43300;G62368;G62394;G62397;G64651;RH65525;RH77881;RH91561;RH92646;RH93823;RH98257;SHGC-142816;SHGC-53547;STS-N20186;STS-N25971 ARG99;FLJ31400;FLJ41625;OLF;TMTC1A OTTHUMP00000240801;OTTHUMP00000240802;OTTHUMP00000240803;OTTHUMP00000240804;transmembrane and TPR repeat-containing protein 1;transmembrane and tetratricopeptide repeat containing 1A protein-coding ENSG00000133687 24099 12472 VALIDATED 5133077 TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring TMX2 (thioredoxin-related transmembrane protein 2) and CTNND1 (catenin, cadherin-associated protein, delta 1) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010] 11 57479995 57586652 + 20967262;9205841 100528016 H3BSU7 AB002382;ABBA01021475;ABBA01021476;ABBA01021477;ABBA01021478;ABBA01021479;ABBA01021480;ABBA01021481;AMYH01003653;AMYH01003654;AMYH01003655;AP000662;AP001931;NR_037646 BAA20838 Hs.166011 1744367;2156883 GDB:451855;RH47458 KIAA0384 APPROVED miscrna ENSG00000254462 41992 VALIDATED 1605568 TMTC3 transmembrane and tetratricopeptide repeat containing 3 This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010] 12 12 12 q21.32 88204154 88261758 + 87060232 87115591 + 88536073 88593664 + 6480464 12477932;16381901;15489336;15489334;14702039;11230166;11076863;21603654;21956870;21139048;21890473 160418 A8K321;F8VR71;F8VRY4;F8W044;Q6ZXV5 ABBA01053427;ABBA01053428;AC087865;AC091516;AC127901;AJ697717;AK023165;AK074973;AK290436;AK302755;AK310375;AK310393;AMYH01004646;BC117175;BC117177;BG287027;BX538169;CH471054;CR737828;CR749244;CR749309;CR933632;CR936640;NG_021187;NM_181783 AAI17176;AAI17178;ADR83426;BAC11325;BAF83125;BAG63967;CAD98046;CAG26973;CAH18100;CAH18164;CAI45938;CAI56780;CAL38672;EAW97415;NP_861448;Q6ZXV5 Hs.331268 1683108;1744317;2172397 GDB:451670;RH66244;RH92827 DKFZp686C0968;DKFZp686M1969;DKFZp686O22167;DKFZp686O2342;FLJ90492;SMILE OTTHUMP00000242386;transmembrane and TPR repeat-containing protein 3 APPROVED protein-coding ENSG00000139324 26899 10243 REVIEWED 1606198 TMTC4 transmembrane and tetratricopeptide repeat containing 4 13 13 13 q32.3 82100323 82171290 - 100054091 100125104 - 101256090 101327103 - 6480464 16381901;16344560;16094384;15489336;15489335;15489334;15057823;14702039;12477932;11991713;11230166;11076863;19322201 84899 B7Z666;C9K0R2;H7C095;Q5T4D3 ABBA01027086;ABBA01027087;ABBA01027088;AF339792;AK027530;AK056409;AK092653;AK290345;AK299859;AL359085;AMYH01005334;AMYH01005335;AW513848;BC018707;BG830268;BX647956;BX648008;CH471085;CV029196;DA368450;NM_001079669;NM_032813 AAH18707;BAB55179;BAF83034;BAH13152;CAL37901;EAX09040;EAX09041;EAX09042;EAX09043;NP_001073137;NP_116202;Q5T4D3 Hs.190983 1643672;1848635;2151606 A007J11;NIB1408;RH47425 FLJ14624;FLJ22153 OTTHUMP00000018648;OTTHUMP00000018651;OTTHUMP00000215105;transmembrane and TPR repeat-containing protein 4 protein-coding ENSG00000125247 25904 07864 VALIDATED 1349176 TMUB1 transmembrane and ubiquitin-like domain containing 1 7 7 7 q36.1 145335504 145337952 - 150409105 150411021 - 150778172 150780620 - 6480464 19254477;16344560;16014383;15489334;12975309;12690205;12477932;18029348;21832049;21343306;21987572;21139048;21890473;21906983;22318606;21963094;23000965;22053931;22505724 83590 C9JCW7;C9JE12;Q9BVT8 AACC02000108;ABBA01035166;ABBA01035167;AC010973;AK314035;AMYH01018142;AY037155;AY358481;AY603380;BC000936;BC033182;CH471173;DA355717;NM_001136044;NM_031434 AAH00936;AAH33182;AAK67645;AAQ88845;AAU00156;BAG36745;EAL24501;EAW54030;EAW54031;EAW54032;NP_001129516;NP_113622;Q9BVT8 Hs.726215 2137092 D7S469E C7orf21;DULP;MGC5442;SB144 OTTHUMP00000213150;OTTHUMP00000213151;OTTHUMP00000213152;OTTHUMP00000213154;OTTHUMP00000213155;OTTHUMP00000213156;dendritic cell-derived ubiquitin-like protein;hepatocyte odd protein shuttling protein;transmembrane and ubiquitin-like domain-containing protein 1;ubiquitin-like protein DULP;ubiquitin-like protein SB144 protein-coding ENSG00000164897 21709 12910 614792 VALIDATED 1604292 TMUB2 transmembrane and ubiquitin-like domain containing 2 17 17 17 q21.31 38973088 38977832 + 39619880 39624625 + 42264354 42269099 + 6480464 16381901;15498874;15489336;15489334;14702039;12975309;12477932;11230166;11076863;9110174;8619474;21139048;21890473;21906983 79089 E7ESS3;K7EJF7;K7EKW3;K7EPS1;K7ESL5;Q71RG4 ABBA01028383;AC004596;AF289564;AF370373;AK021759;AK096631;AK294198;AL533563;AL538440;AL833899;AMYH01008412;AY007092;AY358780;BC001792;BC004306;BC063489;BI906577;CH471178;NM_001076674;NM_024107;NM_177441 AAH01792;AAH04306;AAH63489;AAL55748;AAQ15209;AAQ89140;BAB13886;BAG53343;BAG57512;CAD38755;CAL38416;EAW51624;NP_001070142;NP_077012;NP_803190;Q71RG4 Hs.181391 1734482;2140699;2140701;2172594;2191769;5015861;5015961;5016478;5020740;5022322;5022578;5022651;5024761;7185938 A005Q19;D10S16;D11S2560;D11S2921;D15S1477;D17S1439E;D1S1423;G20416;GDB:434012;L17809;MARC_7251-7252:996687693:1;RH16013;RH36905 FP2653;MGC3123 transmembrane and ubiquitin-like domain-containing protein 2 protein-coding ENSG00000168591 28459 14542 VALIDATED 1348440 TMX3 thioredoxin-related transmembrane protein 3 18 18 18 q22 63187511 63228954 - 64491905 64533333 - 66340925 66382353 - 737633;1580863;6480464 12477932 19995400;11230166;11076863;19240061;17881353;16381901;15623505;15489336;15489334;14702039;11347906;20485507;19615732;21832049;21906983;19322201 54495 B4DIE3;F5H4F7;H3BPB3;H3BRY0;H3BT89;H3BVI1;Q96JJ7 AB058733;ABBA01056275;AC040896;AK000800;AK025025;AK122715;AK295551;AK307269;AK310389;AL832341;AL832356;AMYH01009072;BC007690;BC018981;BC032325;BC093792;BC093794;BC107422;BC143400;BX647846;CH471117;NM_019022 AAH32325;AAH93792;AAH93794;AAI07423;BAA91381;BAB47459;BAG53687;BAG58455;CAL38084;CAL38173;EAW66508;EAW66509;NP_061895;Q96JJ7 Hs.440534 1678259;1680014 RH92978;RH98336 FLJ20793;KIAA1830;PDIA13;TXNDC10 protein disulfide isomerase family A, member 13;protein disulfide-isomerase TMX3;thioredoxin domain containing 10;thioredoxin domain-containing protein 10 protein-coding ENSG00000166479 24718 15591 VALIDATED 1603042 TMX2 thioredoxin-related transmembrane protein 2 11 11 11 cen-q22.3 54836522 54865161 + 57236618 57265020 + 57479995 57508445 + 6480464 16303743;12975309;12670024;12477932;10810093;8125298;22939629;21900206;21987572;21139048;21890473;21906983;22045338 51075 E9PLR1;E9PRL5;E9PSF0;G3V155;Q9Y320 ABBA01021475;ABBA01021476;ABBA01021477;AF059753;AF132965;AK075359;AK223058;AK297688;AK298065;AK312990;AL037895;AMYH01003653;AMYH01003654;AP000662;AP001931;AY358501;AY451236;AY451237;BC000666;BC093062;BI762960;BQ686696;CD690929;CH471076;NM_001144012;NM_015959;NR_026593;NR_037645 AAD27740;AAG43122;AAH00666;AAH93062;AAQ88865;AAS66642;BAC11569;BAD96778;BAG35827;BAH12650;BAH12716;EAW73777;EAW73778;EAW73779;EAW73780;NP_001137484;NP_057043;Q9Y320 Hs.654965 1725705;1749087;1777157;1782246;2164896 D11S4605;G62115;RH18244;SHGC-110745;SHGC-111424 CGI-31;DKFZp781O2021;MGC111151;PDIA12;PIG26;TXNDC14 OTTHUMP00000235468;OTTHUMP00000235470;cell proliferation-inducing gene 26 protein;growth-inhibiting gene 11;proliferation-inducing gene 26 protein;protein disulfide isomerase family A, member 12;thioredoxin domain containing 14;thioredoxin domain-containing protein 14;thioredoxin-related transmembrane protein 2 protein-coding ENSG00000213593 30739 VALIDATED 1354144 TNC tenascin C This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011] 9 9 q33 116822626 116920307 - 117781854 117880536 - 1580863;4889566;4889589;4889573;4889600;4889561;4889568;4889569;4889572;4889562;4889567;4889609;4889571;4889599;4889619;4889612;4889595;4889614;4889570;4889598;4889565;4889591;4889564;4889618;4889594;6480464;6484113;6907045 17001473;18305139;19721293;19589197;20833777;16690978;16115819;9310019;20528622;16782755;17999372;12605648;20554738;11085900;16928692;9780295;15565633;15879421;20816680;17125141;12916355;19288153;11454990;10950882 2466295;21496259;18794852;18757408;18751374;18695899;18504437;18502153;18353721;18177748;18173448;18062933;18061975;18029348;17983425;17901052;17681310;17616673;17584833;17311283;17202312;17188391;17188181;17181107;17083689;17013087;16996565;16926030;16493581;16461331;16388320;16335952;16292494;16259977;16245312;16157221;16100012;16091738;15983124;15892123;15816617;15558324;15530854;15511229;15469480;15455729;15342556;15239346;15178565;15073129;15059978;15024713;15001984;14981900;14618612;1704365;16891397;19561617;19484261;19459858;19405959;19287959;19147558;19070467;18815154;12759243;12557222;12477932;12388760;12351514;12209613;12182416;12168675;11948127;11920587;11850444;11714809;11668187;11470832;11313993;10953015;10103110;9565552;9341124;9314546;8824254;8548761;7531707;7524681;7499434;1719530;1707164;1385416;1279805;7693733;8798654;7523411;7694284;7559467;22511780;19944367;15844597;19326143;19581738;19688689;19748582;19887451;20042668;20083228;20107185;20346360;20379614;20453000;7541634;8769660;20651280;20653781;20613589;20727496;20729912;21091771;20232238;20583170;20622113;22495383;16144346;20708078;20678196;21281808;21039988;22851489;22760918;21183183;21298289;21350305;23064399;21403679;21501293;21559807;21862932;22039306;21839747;21512282;21951663;22118674;23485472;22951722;21762512;22110694;21885141;22219177;21997179;23645740;23192621;23128233;22699754;21763295 3371 B4E1W8;E9PC84;F5H5D6;F5H7V9;H0YGZ3;J3QSU6;P24821;Q4LE33 AB210038;ABBA01042657;ABBA01042658;AI266750;AI964017;AK304015;AL162425;AMYH01021675;BC151843;BP278052;BP279008;BQ575939;BQ880861;BU860660;BX100095;BX641111;CH471090;CX871573;GU473235;M24630;M55618;NG_029637;NM_002160;X56160;X78565;X80280 AAA52703;AAA88083;AAI51844;ADD10730;BAE06120;BAG64930;CAA39628;CAA55309;CAE46051;EAW87434;EAW87435;NP_002151;P24821 Hs.143250;Hs.734766 1339215;1653868;1660283;1684778;1690143;1746011;1747913;2118169;2153294;2157723;2158272;2170685;2181013;2187174;5022651 AFM206ZE3;D11S2921;D9S1713;D9S51;G15905;G66894;RH121986;RH46318;RH48393;RH67973;RH92351;STS-AA029758;STS-M55618;STS-U44098;WI-18981 150-225;GMEM;GP;HXB;JI;MGC167029;TN;TN-C GP 150-225;OTTHUMP00000022738;OTTHUMP00000237658;OTTHUMP00000237659;OTTHUMP00000237669;OTTHUMP00000237695;cytotactin;glioma-associated-extracellular matrix antigen;hexabrachion (tenascin);myotendinous antigen;neuronectin;tenascin;tenascin-C isoform 14/AD1/16 APPROVED protein-coding ENSG00000041982 5318 01756 187380 REVIEWED 1351235 TNFAIP5 tumor necrosis factor, alpha-induced protein 5 7129 11897 1318232 TMX1 thioredoxin-related transmembrane protein 1 TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM, Mar 2008] 14 14 14 q22.1 31573863 31591352 + 50776636 50794123 + 51706886 51724373 + 6480464 18029348;11152479;17081983;16344560;16303743;15489334;15302935;12975309;12508121;12477932;19741092;22939629;20000738;22228764;19322201;21987572;21139048;21890473;21906983;22045338;22505724 81542 G3V448;Q9H3N1 AB048246;ABBA01018151;AK075395;AK303134;AK312905;AL080080;AL591807;AMYH01005724;AY358640;BC016769;BC032834;BC036460;BC050366;BC056874;BU754378;CH471078;DA203669;NM_030755 AAH36460;AAH56874;AAQ89003;ABM82600;ABM85786;BAB20629;BAC11593;BAG35751;BAG64239;CAB45700;EAW65678;EAW65679;NP_110382;Q9H3N1 Hs.125221 1689005;1690922 RH65082;RH93716 DKFZp564E1962;PDIA11;TMX;TXNDC;TXNDC1 OTTHUMP00000244862;protein disulfide isomerase family A, member 11;thioredoxin domain containing;thioredoxin domain containing 1;thioredoxin domain-containing protein 1;thioredoxin-related transmembrane protein 1;transmembrane Trx-related protein APPROVED protein-coding 15487 15590 610527 VALIDATED 1349059 TNFAIP7 tumor necrosis factor, alpha-induced protein 7 7131 11899 1603023 TMX4 thioredoxin-related transmembrane protein 4 20 20 20 p12 8031292 8069972 - 7909713 7948393 - 7961713 8000393 - 6480464 18029348;17081983;16303743;15489334;14702039;12975309;12477932;11780052;10574461;8125298;19811453;20056998 56255 E9PIN7;E9PIU6;Q9H1E5 AB032988;ABBA01053918;ABBA01053919;AK074838;AK075404;AK226005;AL021396;AL118494;AMYH01011701;AY359004;BC021964;BC033787;BC044777;CH471133;CS051207;NM_021156 AAH33787;AAQ89363;BAA86476;BAC11237;BAC11599;CAB56344;CAI72099;EAX10377;NP_066979;Q9H1E5 Hs.169358 1661523;1679381;1687031;1707678;1768217;2122826;2157408;5037552;5094054 D20S1128;D8S2279;G34944;RH11682;RH64133;RH66954;SHGC-67771;SHGC-82009;WI-18137 DJ971N18.2;KIAA1162;PDIA14;TXNDC13 OTTHUMP00000030232;OTTHUMP00000232278;protein disulfide isomerase family A, member 14;thioredoxin domain containing 13;thioredoxin domain-containing protein 13;thioredoxin-related transmembrane protein 4 protein-coding 25237 11128 PROVISIONAL 1312234 TNFAIP2 tumor necrosis factor, alpha-induced protein 2 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008] 14 14 14 q32 83646666 83657739 + 102662417 102673529 + 103592664 103603776 + 1580863;6480464 1374453;19339270;12477932;10766166;8106408;21057457;19913121;20628086;20628624;20157331;20237496;21399635;21555518;22939629;21921781;21934093;21139048;22797925 7127 E7EWH2;F6RNL3;H0YKI8;H0YKR7;H0YKY9;H0YL88;H0YLC0;H0YM45;Q03169 ABBA01048434;AK302929;AK303781;AK309854;AK316496;AL161669;AMYH01006043;AY273786;BC017818;BC128449;BC128450;CH471061;M92357;NM_006291 AAA35582;AAI28450;AAP12649;BAG64090;BAG64740;BAH14867;EAW81805;NP_006282;Q03169 Hs.525607;Hs.736562 2135425 RH17752 B94;EXOC3L3 TNF alpha-induced protein 2;exocyst complex component 3-like 3;primary response gene B94 protein;tumor necrosis factor alpha-induced protein 2 APPROVED protein-coding ENSG00000185215 11895 04487 603300 REVIEWED 1314220 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 5 5 5 q23.1 114558091 114683993 + 118632317 118758193 + 118604418 118730294 + 1580863;6480464 22666399;10644768;17353931;14724590;19112178;16189514;15342556;14702039;12477932;10233894;20699119;17207965;20398053;22863883;22886548;23280553;23299407;22631659 25816 B7Z713;D6RCM8;E5RIJ3;J3KQT8;O95379 ABBA01068976;ABBA01068977;AC008475;AC027320;AC035144;AF070671;AF098933;AF098934;AF099935;AF099936;AK001850;AK001931;AK097284;AK097884;AK301281;AMYH01015576;BC005352;BC007014;BE958495;BP274520;CH471086;CR457137;NM_001077654;NM_014350 AAC72975;AAC72976;AAC83229;AAF29435;AAH05352;AAH07014;ADQ32859;BAG50983;BAG50994;BAG53444;BAH13449;CAG33418;EAW48913;EAW48914;NP_001071122;NP_055165;O95379 Hs.656274 1656892;1665237;1672678;1675824;1697230;1754179;1769700;2157524;2177237 A004P34;D16S3333;RH102109;RH16153;RH45932;RH68508;RH69758;RH93581;SHGC-132203 GG2-1;MDC-3.13;SCC-S2;SCCS2 NDED;NF-kappa-B-inducible DED-containing protein;OTTHUMP00000222960;OTTHUMP00000222961;OTTHUMP00000222962;OTTHUMP00000223172;TNF alpha-induced protein 8;TNF-induced protein GG2-1;head and neck tumor and metastasis-related protein;tumor necrosis factor alpha-induced protein 8 protein-coding 17260 18204 612111 VALIDATED 1345645 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010] 2 2 q23.3 151922351 151944806 + 152214106 152236562 + 1580863;6480464 1730767;19389798;19383344;19344623;18820257;18586671;18448433;18260761;18042364;17585936;16873769;16771708;16709183;16687630;16467113;16453284;16006654;15917224;15840581;15809059;15718240;15653696;15489334;15060082;14718574;14515153;12692188;12477932;12401803;11854277;11278699;9654129;8797823;8568267;7935377;7516184;20602615;20628624;20237496;11375929;8454591;20463016;17207965;21239672;23129777;23166324;23314748;21566135;21596748;21864707;22267482;23143601;22922154;23017666 7130 P98066 ABBA01004768;ABBA01004769;ABBA01004770;AC009311;AF086484;AJ413948;AJ413949;AJ419936;AJ421518;AMYH01011168;AU102580;BC030205;CA307541;CA415298;CH471058;CS722271;M31165;NM_007115 AAB00792;AAH30205;AAY15067;ADQ32479;CAD12353;CAD13434;CAQ43122;EAX11511;NP_009046;P98066 Hs.437322 1711208;1796966 SHGC-85360;TNFAIP6_1246 TSG-6;TSG6 OTTHUMP00000162710;TNF alpha-induced protein 6;TNF-stimulated gene 6 protein;hyaluronate-binding protein;tumor necrosis factor alpha-inducible protein 6;tumor necrosis factor-inducible gene 6 protein;tumor necrosis factor-inducible protein 6;tumor necrosis factor-stimulated gene-6 protein APPROVED protein-coding ENSG00000123610 11898 02680 600410 REVIEWED 1346510 TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008] 17 17 q22-q23 23686913 23698160 + 26662548 26674035 + 1580863;6480464 1370465;19196817;16870576;16565220;16344560;15489334;12600716;12477932;12039524;11929592;11849463;11791643;11704801;11702059;11591653;7536959;2406243;2233719;21145461;19593659;19615732;19637314;19782033;20158880;18029348;19851886;20309963;21139048;21890473;21906983;21963094;21987572;22810651;22505724;21988832;23000965 7126 B7Z6M4;J3QS43;J3QSD4;K7EM01;Q13829 ABBA01015060;AC002094;AK300584;AK312387;AMYH01008277;AY065346;BC001643;BC001949;BC003694;BT020121;CH471159;CR456819;DB093553;M80783;NM_021137 AAA58385;AAH01643;AAH01949;AAL38649;AAV38924;ABM83684;ABM86981;BAG35304;BAH13310;CAG33100;EAW51077;NP_066960;Q13829 Hs.76090 1685435;1686670;1769154;2107689 RH64867;RH64911;SHGC-31509;TNFAIP1__5106 B12;B61;BTBD34;EDP1;MGC2317;hBACURD2 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2;BTB/POZ domain-containing protein TNFAIP1;OTTHUMP00000163324 APPROVED protein-coding ENSG00000109079 11894 01856 191161 REVIEWED 1603272 TNFAIP8L1 tumor necrosis factor, alpha-induced protein 8-like 1 19 19 19 p13.3 4576202 4592255 + 4590530 4604953 + 4639527 4655580 + 6480464 16189514;14702039;12477932;21600655;21832049;22952844 126282 Q8WVP5 ABBA01056052;AC005339;AC011498;AK024161;AK097251;AMYH01009341;BC017672;BC044250;BX282702;CH471139;CS185650;NM_001167942;NM_152362 AAH17672;CAJ42831;EAW69204;EAW69205;NP_001161414;NP_689575;Q8WVP5 Hs.465643 1656136;1771069;2126847;5014003;5014039;5015404;5015619;5015861;5015869;5016478;5017170;5020946;5021872;5022578;5022651;5024761;5037552;5092626;5109573;7185938 A005C06;D10S16;D11S2921;D11S3114;D17S1136;D19S693E;D1S1423;D22S1584;D8S2279;G32222;GDB:313261;GDB:434012;L17705;L17971;L29953;RH16448;RH36905;RH69233;sY3084 FLJ39932;MGC17791;TIPE1 TNF alpha-induced protein 8-like protein 1;TNFAIP8-like protein 1;tumor necrosis factor alpha-induced protein 8-like protein 1;tumor necrosis factor, alpha-induced protein 8-like protein 1 protein-coding ENSG00000185361 28279 11314 VALIDATED 1606238 TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2 1 1 1 q21.3 124244396 124247516 + 149395729 149398849 + 151129105 151132225 + 6480464 12477932;20663561;8125298;21459448;21466895;22326055;23009108 79626 Q6P589 ABBA01049379;AF271774;AF548003;AK027120;AK225472;AL592424;AL833373;AMYH01001386;BC012013;BC063014;BI833715;CH471121;CR457375;CS000936;JA885114;NM_024575 AAG44785;AAH63014;AAQ12262;BAB15664;CAG33656;CAI46145;CAI48009;CCQ77682;EAW53468;NP_078851;Q6P589 Hs.432360;Hs.744751 1687083;1718275;5037552 D8S2279;RH122909;RH79577 FLJ23467;TIPE2 OTTHUMP00000014152;TNF alpha-induced protein 8-like protein 2;TNFAIP8-like protein 2;inflammation factor 20;inflammation factor protein 20;tumor necrosis factor alpha-induced protein 8-like protein 2;tumor necrosis factor, alpha-induced protein 8-like protein 2 protein-coding ENSG00000163154 26277 08029 612112 VALIDATED 1351803 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012] 6 6 q23 138230274 138246142 + 138188325 138204451 + 1580863;6480464;6484113;6907045 17962196;16344560;22019834;22127930;11463333;15169888;18029348;19565500;19494296;19492975;19453261;19412163;19387456;19380639;19380636;19366996;19344623;19336370;19292917;19262574;19258598;19169254;19165919;19165918;19152111;19131965;19124729;19110536;18814951;18813897;18794853;18349075;18164316;17982456;17297453;17259397;17081983;16936197;16824518;16816117;16684768;16474993;16306043;16164629;15862966;15661910;15489334;15474016;15258597;15251990;15231748;15142865;14754897;14748687;14574404;12965196;12794157;12477932;12167698;12080044;11594795;11573245;11390377;11389905;11009421;10755617;10435631;10385526;9928991;9882303;9299557;8797804;8702721;8692885;8663499;2406243;2118515;18329387;19060883;15601843;17961127;17886247;20453841;20453842;19913121;20617138;20628086;20628624;21111841;18029035;22507528;20936779;17953374;19240061;19608751;19615732;19617629;19643665;19774492;19838193;19851077;19879194;19902201;19907439;19912257;19948975;20032510;20049410;20112363;20176734;20186265;20190752;20231195;20233754;20304918;20353580;20392859;20439292;20444755;20483768;20511617;20533286;20430393;20800603;20849588;20852893;20921970;20962850;21048031;20953190;20585109;20804738;22087647;20822710;12885753;18223652;19285159;21968712;22397314;22843550;22924496;20448643;21336280;20669229;21220427;20501938;21604024;21795344;21127049;21406721;21437236;21566404;21266526;19648161;21208380;21531730;21625233;23671587;22925894;21763284;21740805;22099304;21326317;21787353;21095585;21885437;20622874;21139048;21890473;21906983;21963094;21988832;22898832;22939624;23000965;23039325;23054742;23471665;22525270;22093807;22031828;21964925;22285182;10544141;17088249;18246070;22402800;22733818;22623711;22634524;22207688;22936803;23002441;23105109;23161053;23114873;23148088;23425151;23128233;23247143;23273568;12586352;22461193;22488580;22505724;22585859;22586175;23018911;23032186;23032187;23463012 7128 P21580;Q5VXQ8;Q5VXQ9;Q5VXR0 ABBA01025818;AK312862;AL157444;AL357060;AMYH01016702;AY248754;AY820830;BC041790;BC064689;BC098379;BC113871;BC114480;BQ002744;CB528739;CH471051;DB143089;FJ434402;FJ434405;FJ434406;FJ434407;FJ434408;FJ434409;FJ434410;FJ434411;FJ434412;FJ434413;FJ434414;FJ434415;FJ434417;FJ434418;FJ434419;FR775799;HY009939;HY085289;M59465;NG_032761;NM_001270507;NM_001270508;NM_006290 AAA51550;AAI13872;AAI14481;AAO61093;AAV71149;ACN87230;ACN87231;ACN87232;ACN87233;ACN87234;ACN87235;ACN87236;ACN87237;ACN87238;ACN87239;ACN87240;ACN87241;ACN87242;ACN87243;ACN87244;BAG35714;CAB75664;CBY94061;EAW47923;EAW47924;EAW47925;EAW47926;NP_001257436;NP_001257437;NP_006281;P21580 Hs.211600 1653900;1668722;1754155;1792028;1792030;1792494;1794730;1794732;1794734;1796964;2143031;2156202;2157564;2164892 D6S1833;D6S1858;D6S2077;G10608;PMC135646P1;PMC135646P2;PMC152246P3;PMC355833P1;PMC355833P2;PMC355833P3;SHGC-132182;STS-M59465;STS-R70479;TNFAIP3_431 A20;MGC104522;MGC138687;MGC138688;OTUD7C;TNFA1P2 OTTHUMP00000017289;OTU domain-containing protein 7C;TNF alpha-induced protein 3;TNFAIP3 (A20);putative DNA-binding protein A20;tumor necrosis factor alpha-induced protein 3;tumor necrosis factor inducible protein A20;zinc finger protein A20 APPROVED protein-coding ENSG00000118503 11896 01857 191163 REVIEWED 1344192 TNF tumor necrosis factor This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Jul 2008] 6 6 p21.3 31651329 31654091 + 31543344 31546113 + 1580315;1580296;1580320;1580322;1580208;1580311;1580205;1580209;1624967;1580313;1580214;1580321;1580210;1580314;1580317;1580207;1580312;1580310;1580604;1580863;1580316;1580318;2292150;1626412;2315113;2315115;2315119;2313255;2315114;2315116;2313253;2315111;2315112;4143415;4143421;4143432;4143417;4143229;4143273;4143425;4143435;4143440;4144094;4143441;4143238;4143391;4142851;4143383;4143397;4143264;4142805;4142833;4143236;4143470;4891465;4144093;4143378;4144784;4145506;4145512;4145665;4143254;4143258;4143270;4145715;4143476;4143479;4143466;4145765;4891398;4144102;4145714;4145366;4142854;4143474;4145508;4144091;4889454;4143272;4145454;4891154;4841878;4142809;4144156;4142816;4142840;4143247;4143280;4143422;4143424;4143427;4143443;4143478;4889847;4142832;4142846;4143369;4142855;4143442;4142835;4143386;4143388;4143395;4142802;4143240;4143375;4142788;4142857;4143372;4143374;4142793;5131936;5135032;4142808;5147925;5147779;5147745;5147676;5147765;6480464;6484113;6907045;7240710;6218988;5128683;5131286;6480432;7245518;5130893;7245571;5131257;5130987;7245525;6907405;5130892;7247423;7245510;7245511;6767553;7247422;7245548;7245570;7245573;5131250;7245941 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7124 B0V0H5;P01375;Q5STB3 AB088112;AB103618;AB202113;AB451492;ABBA01038081;AF043342;AF098751;AF129756;AJ227911;AJ249755;AJ251878;AJ251879;AJ270944;AK314960;AL662801;AL662847;AL929587;AMYH01016217;AY066019;AY214167;AY799806;BA000025;BC028148;BI908079;BP215875;BX248519;BX927320;CA306559;CH471081;CR753892;CR759886;CR942185;CS081473;FJ795028;HQ201306;M10988;M16441;M26331;NG_007462;NM_000594;X01394;X02910;Y14768;Z15026 AAA36758;AAA61198;AAA61200;AAC03542;AAC42098;AAD18091;AAF71992;AAH28148;AAL47581;AAO21132;AAV63951;ABM82588;ABM85775;ACO37640;ADV31546;BAB63396;BAC54944;BAE78639;BAF31279;BAG37464;BAG70306;CAA25650;CAA26669;CAA75070;CAA78745;CAB63904;CAB63905;CAB65595;CAI95946;EAX03424;NP_000585;P01375 Hs.241570 1694938;1741569;1742345;1791368;1791902;1792382;1792384;1792426;1792532;1792832;1792834;1793270;1795084;1796260;1796988;2113844;2116491;2124589;2165242;5117839;5117841 D6S2056;G44361;GDB:181538;GDB:196368;GDB:624603;GDB:624619;LTA_189;PMC108024P2;PMC130126P1;PMC150514P1;PMC150514P2;PMC150895P1;PMC153054P1;PMC165077P1;PMC165077P2;PMC20345P1;PMC97302P1;RH17367;STS-X01394;TNF;TNF_429 DIF;TNF-alpha;TNFA;TNFSF2 APC1 protein;OTTHUMP00000029281;TNF superfamily, member 2;TNF, macrophage-derived;TNF, monocyte-derived;TNF-a;cachectin;tumor necrosis factor;tumor necrosis factor alpha;tumor necrosis factor ligand superfamily member 2;tumor necrosis factor-alpha 1643377;1643399;2289164 BMD5_H;BW111_H;BW325_H APPROVED protein-coding ENSG00000232810 11892 01855 157300;191160;600807;611162 REVIEWED 1604925 TNFAIP8L3 tumor necrosis factor, alpha-induced protein 8-like 3 15 15 15 q21.2 28242207 28290874 - 49136090 49184765 - 51348798 51397473 - 6480464 12477932;20125193 388121 Q5GJ75 ABBA01039087;ABBA01039088;ABBA01039089;AC073964;AK123281;AMYH01006641;AY517501;BC127701;BC127702;CH471082;NM_207381 AAI27702;AAI27703;AAS76642;BAC85572;EAW77412;NP_997264;Q5GJ75 Hs.306343 1710254;5014435 G38326;SHGC-85220 FLJ41287 TNF alpha-induced protein 8-like protein 3;TNFAIP8-like protein 3;tumor necrosis factor alpha-induced protein 8-like protein 3;tumor necrosis factor, alpha-induced protein 8-like protein 3 protein-coding ENSG00000183578 20620 13452 PROVISIONAL 1343839 TNFRSF12L tumor necrosis factor receptor superfamily, member 12-like 9615223 8791 11911 1321639 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012] 18 18 q22.1 58143528 58204484 + 59992520 60054943 + 1599463;1625350;1580863;2291908;2302321;2302324;2302363;2302322;2302361;6480464;6907045;7240710 10615125;17002564;18317887;18248671;18592139;16752412;18417124 17966895;15377473;12929927;20623281;10075662;9367155;19554506;19453261;19416721;19213753;19085839;19079262;19074885;19008470;18928898;18802807;18632421;18606301;18445777;18367263;18311801;18174230;18061491;18008334;17982618;17895323;17876645;17634140;17546619;17447113;17331078;17288531;17115234;16960694;16953816;16583245;16556708;16328004;16270354;16249885;16240334;16215261;16184196;16151677;16083856;16052586;15750601;15615497;15564564;15301860;15248232;12933809;12709501;12568416;12393586;12362049;12296995;12200385;12043011;11918537;11809792;11771666;11762937;11675352;11406619;11118297;10677500;10635328;10500098;10097072;10025951;9878548;9852070;9774460;9718349;9685412;9626621;9345096;7911698;21514280;21050071;21270824;19507210;19578385;19641626;19672874;19705167;19728335;19801982;19890054;19896533;19940926;20205168;20231205;20237496;20436471;20531232;20534768;22266860;22496457;20857484;19913121;20554715;20564239;20628086;20974615;17580719;20506523;20839008;21326202;21159522;21623375;22753650;22705116;20694489;21559440;21472776;22023082;21479680;21742767;21352301;21814016;21814020;21814022;21814026;21964949;21987421;22271396;21643971;22001124;22176920;23664977;22504420;16344560;22824341;22001292;22531921;21541702;22402034;22546829;22214279;23267146;23022100;23241943;22848465;22787434 8792 I4EC36;I4EC38;Q59EP9;Q9Y6Q6 AB209762;ABBA01056192;ABBA01056193;AC100843;AF018253;AF086403;AMYH01009048;CH471096;DA403964;GM980130;GM986870;HE647782;HE649916;HE649917;HE659518;HF584702;NG_008098;NM_001270949;NM_001270950;NM_001270951;NM_001278268;NM_003839 AAB86809;AAI52907;BAD92999;CAX21650;CAX24318;CCF23032;CCF55033;CCF55034;CCF77738;CCQ44072;EAW63124;NP_001257878;NP_001257879;NP_001257880;NP_001265197;NP_003830;Q9Y6Q6 Hs.204044;Hs.621477 1675796;1758243 RH93403;SHGC-147772 CD265;FEO;LOH18CR1;ODFR;OFE;OPTB7;OSTS;PDB2;RANK;TRANCER OTTHUMP00000163667;loss of heterozygosity, 18, chromosomal region 1;osteoclast differentiation factor receptor;receptor activator of NF-KB;receptor activator of nuclear factor-kappa B;tumor necrosis factor receptor superfamily member 11A APPROVED protein-coding ENSG00000141655 11908 04609 174810;602080;603499;612301 REVIEWED 1350284 TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] 8 8 p22-p21 23016379 23030895 + 22960327 22974950 + 1580863;6480464;6484113;6907045 9314565;19035483;18590575;18511705;18460741;18345033;17690453;17522430;16980609;15921376;15916713;15538968;15489334;15340161;15301860;15207703;14999791;14623878;12975309;12808117;12488957;9242610;16174727;16046522;15990565;16169070;12477932;12417331;12390973;12136286;11859410;11848467;11844843;11024459;11001921;10435597;9613612;9551946;9373179;9325248;9242611;19573080;19661294;19773279;19936781;20237496;11396170;11417478;11420819;11442750;11451151;11464279;11753607;20451496;20568250;20799941;21281967;22555108;21483669;23320456 8794 E5RJI1;E9PBT0;F5H6H7;O14798 ABBA01005536;AC107959;AF012536;AF012629;AF014794;AF016267;AF020502;AF033854;AF524869;AK298664;AK298718;AK313213;AMYH01018572;AY358281;BC017852;BC125041;BC125042;BG545631;CH471080;CR541857;DC380668;GM840261;HB475040;NG_032578;NM_003841 AAB67104;AAB67110;AAB71413;AAB81181;AAB87506;AAC05593;AAH17852;AAI25042;AAI25043;AAM82564;AAQ88648;BAG36028;BAG60832;BAH12853;CAG46655;CAT16333;CBA12840;EAW63638;NP_003832;O14798 Hs.655801 2185696 WI-11701 CD263;DCR1;DCR1-TNFR;LIT;MGC149501;MGC149502;TRAIL-R3;TRAILR3;TRID OTTHUMP00000123527;TNF related TRAIL receptor;TNF related apoptosis-inducing ligand receptor 3;TNF-related apoptosis-inducing ligand receptor 3;TRAIL receptor 3;TRAIL receptor without an intracellular domain;TRAIL-R3;antagonist decoy receptor for TRAIL/Apo-2L;cytotoxic TRAIL receptor-3;decoy TRAIL receptor without death domain;decoy receptor 1;decoy without an intracellular domain;lymphocyte inhibitor of TRAIL;tumor necrosis factor receptor superfamily member 10C APPROVED protein-coding ENSG00000173535 11906 04681 603613 REVIEWED 1346827 TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008] 8 8 p21 23049046 23077485 - 22993101 23021543 - 1580863;6480464;6484113;6907045 17353931;9430226;18981952;18980997;18460741;17545522;17522430;16980609;16934748;16799475;16319225;15921376;15919363;15916713;15538968;15489334;15340161;15301860;14999791;12975309;12915532;12808117;12488957;12477932;12421985;12390973;11956107;11844843;11420819;10754286;10229846;9537512;9382840;16174727;16046522;15990565;19573080;19730199;19773279;19948942;20018172;20237496;20875141;17207965;20568250;20819778;19913121;20628086;20799941;21890473;22028813;21483669;22053931 8793 Q9UBN6 AA743393;ABBA01005536;ABBA01005537;ABBA01005538;AC100861;AC107959;AF021232;AF021233;AF023849;AF029761;AK313528;AMYH01018572;AMYH01018573;AY358285;BC052270;BU199149;CD703247;CH471080;GM841195;NG_032579;NM_003840 AAC32765;AAC32766;AAC52053;AAD03477;AAH52270;AAQ88652;ADQ32874;BAG36307;CAT16465;EAW63637;NP_003831;Q9UBN6 Hs.213467 1650182;2162319;5093870 A009Y11;D8S2127;G32973 CD264;DCR2;TRAIL-R4;TRAILR4;TRUNDD OTTHUMP00000123528;TNF receptor-related receptor for TRAIL;TNF-related apoptosis-inducing ligand receptor 4;TRAIL receptor 4;TRAIL receptor with a truncated death domain;TRAIL-R4;decoy receptor 2;decoy with truncated death domain;tumor necrosis factor receptor superfamily member 10D APPROVED protein-coding ENSG00000173530 11907 04682 603614 REVIEWED 1346665 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009] 8 8 p22-p21 22933591 22982637 - 22877646 22926700 - 1580863;2290494;2290500;2290492;2290495;2290498;2290493;2298524;2290496;2290491;2290497;4143170;4142856;4143171;6480464;6484113;6907045;7240710 16033835;14872496;17011986;17671220;18019056;16271751;17303227;16865223;17184908;10693703;17403612;19934367;19961901 18022315;17983809;17968315;17922852;17881637;17690453;17689858;17666396;17627287;17548900;17273769;17070520;17027647;16980609;16980044;16778114;16731632;16729023;16632604;16571651;16544055;16541419;16529749;16344560;16319225;16226105;16051735;16007131;16003390;15921376;15828026;15757891;15685228;15655781;15608691;15538968;15520016;15507617;15502938;15489334;15485835;15480430;15452120;15356269;15334061;9373179;9311998;9430227;11464292;14644197;12761501;10549288;8777713;10894160;19584075;19573080;19519609;19434100;19424623;19412666;19376776;19243385;19230044;19219602;19212626;19074885;19074831;19037087;18840411;18829683;18625509;18599488;18593935;18534188;18519235;18511705;18424742;18341587;18314443;18219321;18203008;18190241;18079962;15301860;15208670;15173180;15110168;14759258;14691451;14688276;14576771;14561739;14534720;14506242;12975309;12920112;12915532;12847280;12808117;12642868;12488957;12477932;12421985;12388693;12388624;12218097;12196516;12175536;11862476;11844843;11696376;11193041;10862756;10542098;10072170;9721851;9430228;9382840;9326928;9325248;9285725;9242611;9242610;16174727;16046522;15990565;15659383;11094155;15044455;15688023;15607964;12805378;15322075;22447040;22789540;20430723;20666744;20339295;19432816;20354842;16463784;18165900;19305384;19637313;19643115;19661294;19674787;19730199;19773279;19854829;19890662;19939880;20007968;20087343;20106985;20123409;20154087;20156289;20237496;20410100;20875141;20450916;20422457;20568250;20800603;20802294;20839416;20808443;19913121;20398055;20628086;20634891;20673328;20157774;21044953;21152876;21152878;11940602;21167276;21272366;19593445;21172010;22895172;20714870;22791814;23091198;23142077;19379558;19932172;22824792;21519792;21697087;19343040;19808964;21769428;21279373;22537456;21785270;21538027;21059290;21139048;21890473;22158615;22072062;22412938;22665066;22948392;20714918;22065586;22183068;21805040;22020938;22496450;23065795;23284732;21822306;23000965;23254287;15388581;22695614;18220834;19050264;19427028;21801305;21994560;22053931;22110611;22392486;22585859;23292651;23322903;22419388 8795 B7Z588;E9PBT3;O14763;Q7Z2I8 AB014718;AB054004;AB451272;AB451399;ABBA01005533;ABBA01005534;ABBA01005535;AC107959;AF012535;AF012628;AF016266;AF016268;AF016849;AF018657;AF018658;AF020501;AF022386;AF153687;AF192548;AK291216;AK296128;AK298602;AL529460;AMYH01018570;AMYH01018571;AY358277;BC001281;BX537617;BX538104;BX538179;CH471080;CR541898;CX870630;DA738472;DA889488;JA362580;NG_012145;NM_003842;NM_147187;NR_027140 AAB67103;AAB67109;AAB70577;AAB70578;AAB71412;AAB71949;AAB81180;AAC01565;AAC51778;AAF07175;AAF75587;AAH01281;AAQ88644;BAA33723;BAB39708;BAF83905;BAG70086;BAG70213;BAH12263;BAH12824;CAD97801;CAD98017;CAD98053;CAG46696;CCA94572;EAW63640;EAW63641;EAW63642;EAW63643;NP_003833;NP_671716;O14763 Hs.521456 1749591;1775586;1780230;2116357;2132536;5022322;5037552 D11S2560;D8S2055;D8S2279;SHGC-111279;SHGC-154651;SHGC-5817;WI-15306 CD262;DR5;KILLER;KILLER/DR5;TRAIL-R2;TRAILR2;TRICK2;TRICK2A;TRICK2B;TRICKB;ZTNFR9 Fas-like protein;OTTHUMP00000123492;OTTHUMP00000123493;TNF-related apoptosis-inducing ligand receptor 2;apoptosis inducing protein TRICK2A/2B;apoptosis inducing receptor TRAIL-R2;cytotoxic TRAIL receptor-2;death domain containing receptor for TRAIL/Apo-2L;death receptor 5;p53-regulated DNA damage-inducible cell death receptor(killer);tumor necrosis factor receptor superfamily member 10B;tumor necrosis factor receptor-like protein ZTNFR9 APPROVED protein-coding ENSG00000120889 11905 04680 275355;603612 REVIEWED 1317580 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008] 8 8 p21 23104915 23138584 - 23048970 23082680 - 1580863;4143170;4143171;6480464;6484113;6907045 17403612;19961901 22258765;20714870;9373179;9082980;9311998;18165900;9430227;11464292;19643596;19573080;19505916;19453261;19434100;19424623;19349211;19212626;19203830;19148581;19074885;19074831;19070628;18981952;18789900;18676680;18633131;18590575;18556450;18511705;18421578;18305945;18203008;18163425;17983809;17881904;17666396;17160022;17081983;17075118;17070520;17035413;16847314;16778114;16544055;16529749;16319225;16226105;16217763;16051735;16012731;15975957;15972852;15949439;15921376;15863153;15861184;15757891;15655781;15608691;15538968;15489334;15480430;15452120;15356269;15334061;15301860;15208670;15007095;14576771;14534720;14506242;12927928;12920112;12839575;12808117;12649168;12488957;12477932;12421985;12388693;12239152;12218097;12082627;11862476;11844843;11376335;10862756;10594023;10549288;10400625;9811967;9430228;9382840;9325248;7650480;16174727;16046522;15990565;22240897;22447040;20484047;20666744;15146197;16344560;19170196;19305384;19350268;19625176;19637313;19639179;19643115;19692168;19773279;19789190;20154087;20237496;20363213;20421368;20453000;20354842;20430723;20875141;20568250;20800603;20802294;19913121;20556591;20628086;20638129;20677014;20673328;20889918;21519792;21195543;21272366;19593445;23322903;21367858;23284732;19379558;19932172;21700414;17047155;21685476;22824792;21785270;19343040;21769428;21279373;10894160;22183068;22246181;22665066;22948392;21906983;21953056;22158615;21484799;21909106;22401174;21963094;23050498;23142077;23300075;22695614;23455636;15280356;15388581;17907802;19050264;19427028;21994560;22392486 8797 E5RFH1;O00220 ABBA01005539;AC100861;AK291299;AMYH01018573;BC012866;BT006906;CH471080;CN423254;DB101031;EF064713;FJ795027;JA362578;JF729355;NG_032107;NM_003844;U90875 AAC51226;AAH12866;AAP35552;ABK41896;ABM82717;ABM85899;ACO37639;AEB77762;BAF83988;CCA94571;EAW63636;NP_003835;O00220 Hs.213467;Hs.591834 1798284;2162927 RH67885;TNFRSF10A_2005 APO2;CD261;DR4;MGC9365;TRAILR-1;TRAILR1 OTTHUMP00000123526;TNF-related apoptosis inducing ligand receptor 1;TNF-related apoptosis-inducing ligand receptor 1;TRAIL receptor 1;TRAIL-R1;cytotoxic TRAIL receptor;death receptor 4;tumor necrosis factor receptor superfamily member 10A;tumor necrosis factor receptor superfamily member 10a variant 2 APPROVED protein-coding 11904 04679 603611 REVIEWED 1343569 TNFRSF12A tumor necrosis factor receptor superfamily, member 12A 16 16 p13.3 3010361 3012385 + 3070313 3072384 + 1580863;6480464 21303425;10551889;19349318;19018248;18505918;17594693;17383968;17124496;17018610;16809572;16526941;16503147;16341674;15611130;15489334;15353286;15140220;14573547;12651623;12496418;12477932;12445828;11728344;10751351;22634180;22672874;20810696;20487651;20610643;20628624;20004376;20844036;20557950;20189297;12529173;19241374;19573080;19773279;19828625;19895311;19963275;20237496;20568250;21153335;20927042;21525013;21483105;21993017;21828059;21708117;22055894;22081603;21435232;22767506;21963094;22637703;23288170;21982860;23438059;22896023;23107828;22521346 51330 I3L0S4;I3L1J9;I3L3P4;I3L539;Q9NP84 AB035480;AB035481;ABBA01026726;AC108134;AF191148;AMYH01007088;BC002718;BC020538;BC064377;BM842283;CH471112;CS016820;CS417927;JA065408;JA065415;NM_016639 AAF69108;AAH02718;ABM83894;ABM87215;BAA94792;BAB17850;CAI54172;CAL48784;CCA61735;CCA61738;EAW85428;EAW85429;EAW85430;NP_057723;Q9NP84 Hs.355899 2117908;2129131 RH41886;STS-T56712 CD266;FN14;TWEAKR FGF-inducible 14;OTTHUMP00000159250;fibroblast growth factor-inducible immediate-early response protein 14;tumor necrosis factor receptor superfamily member 12A;tweak-receptor;type I transmembrane protein Fn14 protein-coding ENSG00000006327 18152 05801 605914 VALIDATED 1344563 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 p11.2 16783123 16816127 - 16842398 16875402 - 1580863;6480464;6484113;6907045;7240710 10956646;9311921;19494827;19392801;19321861;19291294;19210517;19207947;19074885;19056482;18981294;18978466;18051214;18046446;18025170;17983875;17917015;17550853;17539903;17492055;17464555;17392798;17392797;17171762;17154264;17119122;16960154;16931039;16919470;22673310;16914324;16618819;16007087;16007086;15827134;15542592;14702039;14512299;12477932;10973284;10920230;10898980;10881172;10880535;10801128;8125298;19028483;19456850;19573080;20676093;19605846;19629655;19741596;19773279;19775471;20006554;20156508;20568250;20301476;20974656;20889194;22627058;21419480;21441570;21687682;21514638;21741080;22076597;22697072;21547394;21850030;22558069;22884984;23225259;20184394;23237420;22983507;12471121;23022100;23303382 23495 E7ER05;J3QR67;O14836;Q4ACX1 AB222991;ABBA01009769;AC104024;AF023614;AK097261;AK223453;AK313302;AL353996;AMYH01008153;AX766384;AY302137;BC109392;CH471196;CS281878;CS281938;CS468488;EF064711;HA635638;HC049945;HC069029;HC083953;HC086501;HH836168;HI923615;NG_007281;NM_012452 AAC51790;AAI09393;AAP57629;ABK41894;BAD97173;BAE16555;BAG36107;CAE00326;CAJ90607;CAJ90609;CAM32377;CAZ39523;CBH32710;CBH51785;CBI12200;CBI67647;CBX33267;CBY65603;EAW55728;EAW55729;NP_036584;O14836 Hs.158341 CD267;CVID;CVID2;FLJ39942;MGC133214;MGC39952;TACI;TNFRSF14B OTTHUMP00000065442;transmembrane activator and CAML interactor;tumor necrosis factor receptor 13B;tumor necrosis factor receptor superfamily member 13B APPROVED protein-coding ENSG00000240505 18153 05365 240500;604907;609529 REVIEWED 730969 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 8 8 q24 120004977 120033564 - 119935796 119964383 - 730033;1624125;1624167;1620974;1624171;1625347;1620794;1620889;1624168;1624176;1620776;1620893;1580863;2302324;6480464;7240710;7205513;7205512;7205514;7205487;7205491;7205485;7205483;7205492;7205494;7205488;7205479;7205481;7205493;7205482;7205516 9108485;16115489;15569000;15648548;16696922;15334463;12189164;15936463;15117849;15883214;17258300;15926884;18592139;21659498;22050177;20727867;22156488;20211333;21479768;21691937;19895657;22386825;20861651;23167338;22989431;18719882;22943310;21793936 18299469;16512757;15124262;12824864;12096838;9168977;19676147;19642016;19554506;19548455;19502537;19453261;19420105;19401376;19380455;19379170;19352306;19351609;19346738;19325145;19299182;19229472;19206164;19158438;19151114;19131500;19128145;19105036;19073256;19062016;19053023;19014892;18945829;18938269;18931513;18929691;18928898;18925325;18821330;18814141;18802807;18789716;18727653;18722030;18697793;18684318;18676739;18668542;18634923;18624938;18579554;18565252;18565244;18490014;18455228;18445777;18399769;18398265;18367263;18362509;18348083;18338379;18328262;18319315;18319311;18311801;18305214;21823052;18271681;18253488;18252198;18251702;18208894;18190241;18178454;18174230;18172654;18156213;18083042;18081868;18061491;18040268;18000166;17993768;17970704;17966895;17923273;17895323;17878722;17876645;17852826;17804683;17723135;17712025;17711477;17706953;17703334;17702740;17667143;17634140;17631639;17606458;17598007;17570371;17558893;17471510;17470718;17448630;17443309;17403189;17388729;17354199;17328075;17288531;17189957;17148684;17147692;17111200;16999948;16980077;16953816;16949901;16831934;16804084;16712673;16687626;16678184;16620835;16611736;16601843;16583245;16533764;16512834;18298349;22516062;22207352;16491292;16453284;16344560;16343827;16288714;16287088;16249885;16240334;16215261;16152630;16151677;16143421;16133687;16123486;15978970;15799029;15794927;15782282;15757850;15721297;15700136;15647836;15638385;15630493;15615493;15564564;15538968;15521102;15504545;15489334;15386310;15340161;15313187;15312251;15308561;15307108;15301860;15292354;15292302;15290725;15242994;15223723;15155868;22455689;22023625;15064358;15059506;14999524;14734048;14680982;14672344;14529897;14508625;14504888;12923331;12857926;12662434;12619938;12584041;12564836;12477932;12469211;12412803;12398237;12364420;12364326;12351414;12221720;12213850;12213849;12210731;12181640;12177271;12153751;12150965;12124406;12110935;12073153;12067713;12056809;12054622;12054560;12054556;12052453;11912131;11505389;11451955;11139569;11035950;10706119;9950424;9688283;9603945;9573043;9571159;9520411;9492069;9478964;9434163;8125298;19058836;19508593;19438902;19449178;19523465;19539794;19565568;19604388;19633200;19643942;19661483;19662974;19671825;19671856;19705167;19730683;19775319;19779468;19801982;19896533;19900367;19907187;19922962;19934266;20004120;20005786;20063037;20110921;20137703;20146170;20157786;20204532;20205168;20231205;20237496;20333869;20534768;20548944;20224558;20028464;20084381;20932948;20970873;20569643;20690034;20809534;20819596;20339356;20448212;20033478;20623670;20960157;20961463;20974615;19436932;20974706;19913121;20205614;20554715;20628086;20890036;16341674;20718662;18589796;21074311;21255246;18683730;21094794;19784545;19787288;21216833;19134349;20621297;20832449;20942739;20929997;21938481;22909822;22952959;22753650;22957004;19114622;22486966;22698523;22027240;22120987;22634178;22824048;22705116;22965192;23183242;21376149;21660951;21352301;21678294;21734015;21474331;21678453;21559440;21738662;21568931;23277172;22863720;23018352;21975354;21903966;21679949;22001124;22001292;22015178;22391059;20416172;21251686;21270110;21316442;21411255;22176920;21994215;22034880;21539822;21327451;21643971;21447702;21941412;23030274;23219833;22567137;22268274;22638612;22025323;22202560;21980299;21359671;21940840;22119834;22185226;15516325;21964949;22079264;22079369;22265272;22278426;22295097;22377704;21913967;22296645;22402034;22546829;22664871;22172725;21259010;22490874;22434650;23331792;23267146;23335067;23336103;23383690;22496403;21868322;22214279;23190522;23178378;23358109;22504420;23176170;22964478;23070830;23304691;22556124;22392486;22798246;23369128;23437003 4982 E5RFV7;O00300 AB002146;AB008822;ABBA01037810;AC107953;AF134187;AK223155;AK308524;AK313710;AMYH01018986;AP004283;AY466112;BC011023;BC030155;BM748946;BQ000897;CH471060;CK903484;DA477521;NG_012202;NM_002546;U94332 AAB53709;AAF20168;AAH30155;AAR23265;ABM83190;ABM86392;BAA25910;BAA32076;BAD96875;BAG36455;EAW91978;NP_002537;O00300 Hs.81791 1682573;1792556;1796968 PMC153764P1;RH93303;TNFRSF11B_1301 MGC29565;OCIF;OPG;TR1 OTTHUMP00000228056;osteoclastogenesis inhibitory factor;osteoprotegerin;tumor necrosis factor receptor superfamily member 11B APPROVED protein-coding ENSG00000164761 11909 04032 239000;602643 REVIEWED 1354073 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008] 22 22 q13.1-q13.31 40650982 40652728 - 42321036 42322821 - 1580863;6480464;6907045;7240710 19207947;19074885;18775026;18051214;18025170;17963166;17154264;17119117;16931039;16931038;16919470;16914324;16840730;16769579;16320342;16226112;16160919;15644327;15585864;14512299;12755599;12721620;12715002;12477932;12471121;12456020;12374279;11869903;11747837;11591325;11509692;11076863;10359578;19573080;19666484;19726767;19773279;20025535;20230666;20237496;20460528;21099364;20554963;21041452;20568250;20974656;20945608;21123970;19731825;15485634;23272079;21483105;21515993;21687682;21744373;21871426;22699762;21607696;22124120;22028296;20301476;23276925;19698991 115650 Q5H8V1;Q96RJ3 AB222990;ABBA01055656;AF373846;AMYH01012806;AMYH01012807;AX772914;AX800072;BC105123;BC112030;CH471095;EF064710;HA635640;HC049947;HC069087;HC083955;HC086503;HH836170;NG_007579;NM_052945;Z99716 AAI05124;AAI11586;AAI12031;AAK91826;ABK41893;BAE16554;CAE06271;CAE51828;CAZ39524;CBH32711;CBH51798;CBI12201;CBI67648;CBX33268;EAW60473;NP_443177;Q96RJ3 Hs.344088 5492405 UniSTS:480937 BAFF-R;BAFFR;BROMIX;CD268;CVID4;MGC138235;prolixin B cell-activating factor receptor;B-cell-activating factor receptor;BAFF receptor;BLyS receptor 3;OTTHUMP00000199650;tumor necrosis factor receptor superfamily member 13C APPROVED protein-coding ENSG00000159958 17755 05883 606269;613494 REVIEWED 1312303 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008] 16 16 p13.1 11966465 11969426 + 12058964 12061925 + 1580863;2317311;2317306;6480464 11104810;15692072 8165126;10801128;10908663;1396583;18025170;17968879;17825416;16960154;16931039;16919470;15542592;15301860;14512299;12477932;11528522;10973284;10903733;10493829;8527407;12721620;15846369;22108903;21250838;19305408;19641626;19741596;19773279;20016944;20568250;23071284;21483105;21687682;22804669;21906983;22166983;20676093 608 H3BMB5;Q02223;Q2TQ40 AB052772;ABBA01006839;AC007216;AMYH01007162;AY509112;AY684975;BC058291;CH471112;CS281880;CS281940;EF152353;EF152354;EF152355;EF152356;NM_001192;U95742;Z14954;Z29574;Z29575 AAB67251;AAH58291;AAR84240;AAV92616;ABN42508;ABN42509;ABN42510;ABN42511;BAB60895;CAA78679;CAA82690;CAA82691;CAJ90608;CAJ90610;EAW85129;NP_001183;Q02223 Hs.2556 1768892;2121912 D16S3207;RH70979 BCM;BCMA;CD269;TNFRSF13A B cell maturation antigen;B-cell maturation factor;B-cell maturation protein;OTTHUMP00000160261;tumor necrosis factor receptor superfamily member 17 APPROVED protein-coding ENSG00000048462 11913 00144 109545 REVIEWED 1344744 TNFRSF22 tumor necrosis factor receptor superfamily, member 22 94098 AY046551 13470 1354179 TNFRSF23 tumor necrosis factor receptor superfamily, member 23 94099 AY046550 13471 1604651 TNFRSF18 tumor necrosis factor receptor superfamily, member 18 This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011] 1 1 p36.3 1128751 1131952 - 1138888 1142089 - 6480464 10074428;19155305;18987746;18924213;22889411;18230609;17538882;17360848;16955181;15944293;15340161;15301860;12975309;12070049;11869690;11812990;10836847;10037686;9177197;18723571;19423540;19547759;19573080;20237496;20331378;20406964;20438785;22516990;22911397;21705620;21557210;21592113;22028176;21445534;12477932;21694467;21670968;22064350;22309286;23432692;23128233 8784 J3KT02;Q9Y5U5 ABBA01016022;AF117297;AF125304;AF241229;AL162741;AMYH01000117;AY358877;BC152381;BC152386;BE244247;BT019531;BT019532;CH471183;NM_004195;NM_148901;NM_148902 AAD19694;AAD22635;AAF63506;AAI52382;AAI52387;AAI56103;AAI56965;AAQ89236;AAV38338;AAV38339;EAW56282;EAW56283;EAW56284;NP_004186;NP_683699;NP_683700;Q9Y5U5 Hs.212680 AITR;CD357;GITR;GITR-D OTTHUMP00000001519;OTTHUMP00000001520;OTTHUMP00000001521;TNF receptor superfamily activation-inducible protein;activation-inducible TNFR family receptor;glucocorticoid-induced TNFR-related protein;tumor necrosis factor receptor superfamily member 18 APPROVED protein-coding ENSG00000186891 11914 04879 603905 REVIEWED 1320832 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor was identified as a cellular mediator of herpes simplex virus (HSV) entry. Binding of HSV viral envelope glycoprotein D (gD) to this receptor protein has been shown to be part of the viral entry mechanism. The cytoplasmic region of this receptor was found to bind to several TRAF family members, which may mediate the signal transduction pathways that activate the immune response. [provided by RefSeq, Jul 2008] 1 1 p36.32 2479150 2486613 - 2487805 2495268 + 1580863;2317281;2317295;6480464 18353719;11742877 9153189;9162022;9462508;11511370;17353931;17474147;18029348;19332782;19110536;19023130;18987746;18671825;18502984;18193050;17947707;17405920;17010447;16797773;16169851;16131544;15917993;15767456;15647361;15568026;15489334;15340161;15301860;15110526;14749527;12975309;12915568;12477932;12466117;12093804;11976496;11756979;11742858;11463856;11390428;9774688;9162061;8898196;10318773;16169070;10706119;20453842;22179929;22459947;16932752;18794853;19473566;19573080;19680232;19701890;19762537;19773279;19915044;20066438;20187130;20190752;20233754;20237496;20439292;20568250;20884631;20962851;17192395;21297633;21533159;21832049;21900206;21920726;21959263;21941365;22239829;11279055;22145905;22113134;22634623;21982860;23128233;23470321 8764 B9A034;F6Q0M4;F6UPZ7;Q92956 AB208808;ABBA01016102;AF153978;AF373877;AF373878;AK124010;AK300515;AK303468;AK310076;AL139246;AMYH01000177;AY358879;AY466111;BC002794;BC018882;BC029848;CH471183;CR456909;NM_003820;U70321;U81232 AAB58354;AAD00505;AAF75588;AAH02794;AAH29848;AAL47717;AAL47718;AAQ89238;AAR23264;ABM83926;ABM87754;BAD92045;BAG53992;BAG62227;BAG64508;CAG33190;EAW56089;EAW56090;EAW56091;EAW56092;EAW56093;EAW56094;NP_003811;Q92956 Hs.512898 1652796;1734704;1850322;2117753 D1S1782E;RH79192;SHGC-74065;STS-U70321 ATAR;CD270;HVEA;HVEM;LIGHTR;TR2 CD40-like protein;OTTHUMP00000000866;OTTHUMP00000204095;OTTHUMP00000204096;OTTHUMP00000204097;OTTHUMP00000204099;herpes virus entry mediator A;herpesvirus entry mediator A;tumor necrosis factor receptor superfamily member 14;tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator);tumor necrosis factor receptor-like 2;tumor necrosis factor receptor-like gene2 APPROVED protein-coding ENSG00000157873 11912 04122 602746 REVIEWED 1344271 TNFRSF19 tumor necrosis factor receptor superfamily, member 19 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 13 13 13 q12.11-q12.3 5207376 5312894 + 23042723 23148232 + 24144509 24250244 + 1580863;6480464 10809768;18029348;17239012;17187358;15489334;15340161;15301860;12975309;12477932;12060722;10764796;7829101;15694321;15694322;22589738;19641626;20237496;20512145;20881009;16344560;21127458;22057614;22493691 55504 Q9NS68 AB040434;ABBA01007880;ABBA01007881;AF086276;AF167555;AF246998;AF246999;AK292874;AK292891;AK304290;AL161422;AL354815;AMYH01004970;AY358888;BC035796;BC047321;BF968836;BF971156;BG674480;BI494770;BM801444;CA437886;CH471075;DA192370;DB223760;NM_001204458;NM_001204459;NM_018647;NM_148957 AAF71828;AAH47321;AAK28395;AAK28396;AAQ89247;BAB03269;BAF85563;BAF85580;BAG65148;EAX08325;EAX08326;EAX08327;NP_001191387;NP_001191388;NP_061117;NP_683760;Q9NS68 Hs.149168;Hs.730848 1340549;1700676;1722213;1766693;1796970;2166300;7187829 D13S292;G60010;RH103961;RH46092;SHGC-149974;TNFRSF19_1365 TAJ;TAJ-alpha;TRADE;TROY OTTHUMP00000018113;OTTHUMP00000018114;OTTHUMP00000018116;toxicity and JNK inducer;tumor necrosis factor receptor superfamily member 19 APPROVED protein-coding ENSG00000127863 11915 05838 606122 REVIEWED 1298224 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008] 1 1 p36.22 12149647 12191864 + 12227060 12269277 + 738128;1580863;1625350;2315115;2292150;5130927;5131145;5131441;5131448;5131147;5131262;5131439;5131158;5130879;5131423;5130893;5130963;5131442;5131257;5131270;5131148;5130970;5131255;5131445;5131209;5131261;5130960;5131250;5131154;5131112;5131155;5131206;5131251;5130917;5131211;5131274;5131280;5130931;5131265;5131275;5130892;5131286;5131425;5131429;5131434;6480464;6484113;6907045;7247422;7245573;7245475;6907414;7245519;7245518;7245546;7245544;7245520;7245532;7245571;7245537;7245539;7245541;7247423;7245534;7245476;7245510;7245944;5128661;7245511;7245536;7245512;2311357;7245530;7245941;7245540;7245529 10942422;17002564;19825522;12655295;20622144;21070800;19340514;18664626;11159038;21135513;8920779;12228317;21195213;19916860;21359923;11240015;19095579;21402953;21057386;15929959;19798748;21463515;18838275;20007930;21187445;18463260;21481476;21037022;21144722;21068718;21512145;21481092;21224756;21505354;21036476;21317434;19780901;21081778;21508170;21362018;20811626;19845893;19842848;1655258;21831964;23333565;23389459;16209246;19541932;19690440;22449555;22674120;19298452;12865254;11607787;9650354;8393677;22846145;21741153;12500222;22266664;22266663;22425187;18074478;21221075;10564241;20566746;19073786;15841213;23052485;23400706;16408124 22451321;9915784;22228740;21174572;22743059;18083240;18080762;18068948;18038243;18029348;17998218;17852784;17825894;17785864;17763205;17703412;17634906;17530646;17346438;17331078;17267158;17258924;17220297;17207711;17028114;16980123;16979382;16871413;16732051;16732050;16731080;16710414;16645020;16580225;16502120;16282562;16277675;16195372;16142859;16003175;15943902;15920055;15886863;15863392;15851552;15842589;15805680;15787661;15784704;15743036;15674653;15657078;15603867;15585313;15572357;15555301;15526005;15489334;15459750;15457442;15355698;15301860;15274667;15252214;15212671;15146559;15142217;15091317;15071724;15041705;15022314;15018649;15000697;14872483;14743216;14728878;14688526;14688072;11244088;8702885;17010968;19641466;19561157;19557004;19527514;19497711;19453261;19442614;19422935;19421420;19369902;19343543;19336370;19287455;19262425;19258923;19246939;19238748;19212208;19193342;19174780;19141860;19074885;19068596;19050632;19019335;18818748;18807256;18764880;18755894;18717726;18715339;18685868;18679053;18671942;18636124;18593464;18571427;18565259;18544535;18538149;18535030;18510047;18417150;18415772;18385279;18337349;18309487;18248655;18206417;18173921;18088549;14651520;12233877;12220546;12217957;12209507;12209506;12161545;12144133;12122509;12049175;12011375;11979305;11961180;11907583;11907088;11904678;11882518;11861282;11804591;11762942;11737221;11600223;11520075;11371414;11357933;11315843;11285131;11212177;11197692;11169260;11163081;11144293;11126399;11112773;10950109;10848577;10764746;14565595;14532286;14506926;12960285;12918703;12882979;12880679;12858454;12858434;12786601;12770792;12739039;12730509;12661999;12651071;12610797;12610052;12601524;12559634;12530121;12477932;12371624;12370298;12364441;12353079;12351485;12296856;10747083;10206649;9552007;9535738;9507943;9461607;9326234;9109395;9104814;8702708;8661109;8590321;8123048;8069916;7884318;7859281;7821811;7664431;7639698;7559483;7544915;7539446;2173696;2172983;2166946;2160731;2158863;2153136;1966549;1929203;1663076;1655619;1335762;1328224;16846840;9744279;9162022;8710854;11279055;10875917;7852363;20395596;20430728;21419569;20371430;19084540;19177266;19473970;19684152;19692652;19738620;19772798;19773279;19773451;19801788;19811435;19839997;19846171;19892918;19900796;20038584;20045350;20074459;20100586;20110607;20181891;20217072;20237496;20300049;20305143;20369486;20401725;20452482;20488723;20503287;20548340;21393509;15485837;15899873;20568250;20842464;20861605;20959405;19650780;20516030;20980627;19070941;19913121;20485444;20602615;20628086;20628624;20646319;20673868;21150695;21153348;21153362;23095497;20556591;22342236;21403886;21673044;21813066;22110694;21584225;21288590;21523796;21558270;21850048;21554999;21849023;21777909;21995493;22068019;21350240;21809341;21895688;22057614;22617158;21920667;21994466;22221522;22525685;22215119;22547679;22573350;22461090;8548810;9168896;18429822;21988832;23086255;22921902;23408847;7966397;22860894;23316846 7133 B5A977;P20333 AB030949;AB030950;AB030951;AB030952;ABBA01003075;AL031276;AL357835;AMYH01000261;AY148473;AY264804;AY342040;BC011844;BC042167;BC052977;BT019927;CH471130;CS068584;EU826615;GN344135;HI179124;JA362586;M32315;M35857;M55994;NG_029791;NM_001066;S63368;U52165;X80021 AAA36755;AAA59929;AAA63262;AAB19824;AAC50622;AAH11844;AAH42167;AAH52977;AAN72434;AAO89076;AAP88939;AAV38730;ACF47651;BAA89052;BAA89053;BAA89054;BAA89055;CAA56324;CAI84623;CAY56003;CBX53870;CCA94575;EAW71731;EAW71732;EAW71733;EAW71734;EAW71735;NP_001057;P20333 Hs.256278 1777453;1778361;2126947;2127684 G15915;GDB:315093;RH63769;SHGC-31494 CD120b;TBPII;TNF-R-II;TNF-R75;TNFBR;TNFR1B;TNFR2;TNFR80;p75;p75TNFR OTTHUMP00000001784;TNF-R2;TNF-RII;TNFR-II;p75 TNF receptor;p80 TNF-alpha receptor;soluble TNFR1B variant 1;tumor necrosis factor beta receptor;tumor necrosis factor binding protein 2;tumor necrosis factor receptor 2;tumor necrosis factor receptor superfamily member 1B;tumor necrosis factor receptor type II 1643585;2289443;2289516;2289613 BW396_H;BW413_H;BW442_H;SGHRL1_H APPROVED protein-coding ENSG00000028137 11917 01862 191191 REVIEWED 1316426 TNFRSF21 tumor necrosis factor receptor superfamily, member 21 This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013] 6 6 p21.1 47307227 47385639 - 47199268 47277680 - 1580863;6480464 19225519;18029348;17962943;16378686;15623156;15489334;15301860;14702039;14574404;12975309;12477932;11753679;11714751;11485735;9714541;22297296;22761420;22567163;19165232;19654028;20237496;22525750;20819778;21337622;21501873;21900206;19322201 27242 B3KMB6;O75509 AB209394;ABBA01050611;AF068868;AF208860;AJ420531;AK001504;AK025399;AK315560;AL096801;AMYH01016330;AY358304;BC005192;BC010241;BC015466;BC017730;BC021572;BI561782;BT007420;CH471081;CR457190;DR761236;HI574196;HY007775;NM_014452 AAC34583;AAF64274;AAH10241;AAH17730;AAH21572;AAP36088;AAQ88671;ABM81695;ABM84856;BAD92631;BAG37936;BAG50928;CAG33471;CBX47587;EAX04314;EAX04315;EAX04316;EAX04317;EAX04318;NP_055267;O75509 Hs.443577 1644528;1694210;1694248;1719905;1745159;1752131;1756343;1796972;1855137;2119543;5017799 AFM280vg9;AL035169;AL035172;GDB:595836;RH11030;RH123646;RH78244;SHGC-106092;SHGC-143324;TNFRSF21;TNFRSF21_1271 BM-018;CD358;DR6;MGC31965 OTTHUMP00000016561;TNFR-related death receptor 6;death receptor 6;tumor necrosis factor receptor superfamily member 21 APPROVED protein-coding ENSG00000146072 13469 05759 605732 REVIEWED 1312746 TNFRSF25 tumor necrosis factor receptor superfamily, member 25 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008] 1 1 p36.2 6443798 6448842 - 6521211 6526255 - 1580863;6480464 22641456;9114039;9052839;8994832;11911831;18411341;17085968;16986165;16517446;15760679;15301860;15241467;14759258;14702039;12975309;12882979;12875962;12477932;11819535;11793848;11606045;11181995;11094155;9915703;9615223;9446802;8934525;8889548;8875942;9560245;11376335;19674013;19773279;20125169;20568250;21153333;21672030;21421854;22043900;21722370;22956587 8718 K7EJY9;Q9UME5 AB051850;AB051851;AB308321;ABBA01035451;AF026070;AF026071;AK094463;AL158217;AMYH01000216;AY254324;AY358309;BC117189;BC143886;BM666370;CH471130;CS001236;NG_029910;NM_001039664;NM_003790;NM_148965;NM_148966;NM_148967;NM_148970;U72763;U74611;U75380;U75381;U78029;U83597;U83598;U83599;U83600;U94501;U94502;U94503;U94504;U94505;U94506;U94507;U94508;U94509;U94510;U94512;Y09392 AAB39714;AAB40918;AAB41432;AAB41433;AAB41434;AAB41435;AAB82288;AAC39556;AAC50819;AAC51192;AAC51193;AAC51306;AAC51307;AAC51308;AAC51309;AAC51310;AAC51311;AAC51312;AAC51313;AAC51314;AAC51315;AAC51316;AAI17190;AAI43887;AAO63495;AAQ88676;ADR83328;BAB40662;BAB40663;BAF64192;BAG52869;CAA70559;CAA70560;CAA70561;CAI48017;EAW71540;EAW71541;EAW71542;EAW71543;EAW71544;EAW71545;EAW71546;EAW71547;EAW71548;EAW71549;NP_001034753;NP_003781;NP_683866;NP_683867;NP_683868;NP_683871;Q93038 Hs.462529 2140561;2146641;2183834;5015619;5121712 D11S3114;RH12587;SHGC-57889;SHGC-74157;SHGC-74161 APO-3;DDR3;DR3;LARD;TNFRSF12;TR3;TRAMP;WSL-1;WSL-LR OTTHUMP00000000922;OTTHUMP00000000923;OTTHUMP00000000924;OTTHUMP00000000925;OTTHUMP00000220969;OTTHUMP00000220970;OTTHUMP00000220971;OTTHUMP00000220972;OTTHUMP00000220974;OTTHUMP00000220975;apoptosis inducing receptor;apoptosis-inducing receptor AIR;apoptosis-mediating receptor DR3;apoptosis-mediating receptor TRAMP;death domain receptor 3 soluble form;death receptor 3;death receptor beta;lymphocyte associated receptor of death;lymphocyte-associated receptor of death;protein WSL-1;translocating chain-association membrane protein;tumor necrosis factor receptor superfamily member 25;tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein) APPROVED protein-coding ENSG00000215788 11910 04532 603366 REVIEWED 737288 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. [provided by RefSeq, Jul 2008] 12 12 p13.2 6308184 6321522 - 6437923 6451283 - 1624178;1624183;1624194;1624195;1624177;1624179;1624185;1624180;1624181;1624182;1624184;1624190;1580863;2292150;2315115;5130917;5130965;5130987;5131153;5131429;5131203;5131112;5130893;5130963;5131437;5131439;5131150;5130897;5131174;5131425;4143488;5131202;5130975;5131442;5131250;5130943;5131206;5131148;5131433;5131210;5130892;5131201;5131249;5131145;5131157;5131435;5131156;5131427;5130913;5131432;5131445;5130898;5130960;5130939;5131096;5131434;5130945;6480464;6484113;6907045;7240710;7245573;7245519;6907414;7245518;7245536;7245543;7245547;7245548;7245572;7245539;7245511;5131257;7245534;7245510;7245941;7245516;5128661;7245569;2311357;7245535;7245540 17200772;17074049;15117889;14970118;10902757;12935365;16083358;11882518;17442899;17109621;16442237;16077938;12655295;19825522;21224756;20695884;20559450;18347190;19842848;19643942;21144722;21359923;11240015;7912320;8920779;11208652;21248590;20646338;19845893;20435656;20422457;20651834;19095579;21481476;21097524;21512145;15929959;19148690;19864593;21362018;20484920;12824249;21070800;17182684;10753499;20824709;20448050;12752784;19497758;18838275;9582261;18463260;21145890;21283009;1655258;20967881;23333565;19541932;16209246;19690440;10564241;22728466;22042131;21150875;10906156;8393677;21221075;21402953;12500222;22266663;23052485;20525973;18074478;19201910;19073786;12023385;23400706 11226577;20457915;12082592;12049175;12040173;12017295;11985495;11961180;11947900;11937569;11934887;11920568;11909948;11904678;11861282;11801527;11786908;11755217;11737221;11676596;11606045;11598334;11562425;11528523;11522182;11443543;11212177;11196686;11175303;11163081;11098060;11072751;10911999;10875917;10848577;10755617;10706119;10634209;10359574;10356400;10339433;10199409;10187798;9915703;9753329;9642260;9585614;9563508;9557650;9510175;9126987;9045686;9038203;8939750;8934525;8906799;8808629;8612133;8565075;8387891;8077196;7995952;7901149;7876093;7664431;7601280;7156325;3001529;2170974;2158862;2153136;1702293;1655358;1648547;1331108;1315717;18939944;18724939;18621737;11002422;8985253;10187805;9082980;8943045;9560245;15659383;11002417;10400625;7852363;15247912;16195372;16153798;16142859;16134057;16043808;16043718;15949439;15943902;15851552;15842589;15818692;15817701;15787661;15692984;15586174;15542843;15526005;15502938;15492850;15489334;15485837;15457442;15301860;15289829;15288471;15274667;15251454;15188372;15146559;15071491;15063762;15041705;15018649;14872483;14743216;14728878;14702039;14694358;14671137;14610673;19453261;19390575;19390513;19369902;19336370;19287455;19258923;19246939;19242924;19238748;19193342;19116900;19084540;19029521;19019335;18990758;18936101;18818748;18807256;18717726;18715339;18679053;18676680;18625701;18606683;18571427;18544535;19505916;9115275;11684708;15465831;2158863;12761501;12189246;1698610;17010968;2848815;7758105;12887920;19641466;19556827;19541728;19527514;19525953;14585990;13130484;12913922;12911633;12887914;12879482;12858434;12832748;12818408;12811828;12786601;12768019;12748171;12748169;12730509;12706861;12690082;12661999;12651071;12644782;12610052;12601524;12559634;12530121;12477932;12391233;12376300;12353079;12220546;12209523;12209507;12147741;12115625;12107724;12105243;18541194;18538149;18512793;18510047;18508832;18445477;18415772;18408954;18338763;18337349;18333356;18287568;18275007;18248655;18243134;18206417;18180277;18174230;18167350;18163488;18086728;18083240;18078813;18068948;18058462;17921876;17852084;17785864;17763205;17703412;17693606;17688691;17686637;17665448;17665435;17564788;17530646;17477815;17431682;17346438;17324927;17267158;17234651;17105909;17075277;17051333;16859822;16732051;16731080;16580225;16533817;16463024;16447098;16289162;16282562;16277675;16260783;16234278;16227624;16216134;21132303;21315128;21833088;22311714;22228740;22801493;21420073;19913121;20511226;20602615;20628086;20654748;20673868;16344560;19854717;20430728;20930310;21225694;21321109;21316985;20400394;20421368;20497634;20695192;16291755;16680093;16968706;18067272;19077906;19170196;19448410;19523687;19524513;19579027;19582456;19594495;19625176;19673872;19692168;19692652;19701605;19738620;19741298;19772798;19773279;19773451;19784808;19789190;19794511;19796978;19801788;19804406;19826638;19865102;19879194;19879354;19890662;19892918;19906316;19948975;20045350;20066156;20074459;20074469;20098615;20100586;20110607;20237496;20331378;20333651;20430450;20452482;20453000;20483718;20503287;20506103;8621670;21393509;18949366;23081800;23322903;12753742;20568250;20811626;21037509;21048031;21068102;20371430;20458742;20980627;20516030;20564232;19070941;20566746;20062090;21029567;20635912;21153350;21153367;21153368;21256825;21399635;21124859;20955203;20446090;21565411;19593445;22036455;23019260;21113948;21555518;21552549;21284530;21288590;21523796;21930713;20448643;22179575;22288185;19773432;20825417;21113135;21813053;19815541;21602493;21385537;21850048;21737329;22059991;22099304;21880774;21976655;1087798;18037881;18776134;19322201;21331078;22215119;22281876;22547679;22733818;21350240;21819445;22209080;22235167;22396498;22535754;22617158;21567205;22115362;22272576;15707590;21920667;11821416;16115877;22297296;22675546;22848449;7859281;11035039;15310755;15743837;19289468;21724995;9215629;23086255;11078718;16611992;18022363;21963094;21988832;22609894;23000965;23624563;22568977;22860894;21418516;21789618;22749881;23032187;2170559;23117241;23316846;22945416 7132 F5GWJ4;F5H061;F5H4T5;F5H6V7;F5H6Z2;F5H7N1;F5H8A6;Q9UCA4 A21522;ABBA01017638;AC006057;AK056611;AK291088;AK298729;AK304517;AK308061;AK315509;AMYH01004202;AY131997;AY182755;BC010140;BF528949;CH471116;CS068582;DA664652;EU927389;JA362584;JN172914;M33294;M58286;M60275;M63121;M75866;NG_007506;NM_001065 AAA03210;AAA36753;AAA36754;AAA36756;AAA61201;AAH10140;AAM77802;AAO23979;ABW03527;ABW03836;ACH57451;AEO89726;BAF83777;BAG37891;BAG51763;BAG60879;BAG65321;CAA01558;CAI84622;CCA94574;EAW88805;EAW88806;NP_001056;P19438 Hs.279594 1342143;1689392;1733578;1742911;1744001;2131808;2146586;2165756;5037552 D12S356;D12S889;D8S2279;G15949;GDB:214852;GDB:384764;RH75052;STS-M58286;WI-18755 CD120a;FPF;MGC19588;MS5;TBP1;TNF-R;TNF-R-I;TNF-R55;TNFAR;TNFR1;TNFR1-d2;TNFR55;TNFR60;p55;p55-R;p60 OTTHUMP00000238438;OTTHUMP00000238440;OTTHUMP00000238441;TNF-R1;TNF-RI;TNFR-I;tumor necrosis factor binding protein 1;tumor necrosis factor receptor 1;tumor necrosis factor receptor 1A isoform beta;tumor necrosis factor receptor superfamily member 1A;tumor necrosis factor receptor type 1;tumor necrosis factor receptor type I;tumor necrosis factor-alpha receptor APPROVED protein-coding ENSG00000067182 11916 01861 142680;191190;614810 REVIEWED 737374 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008] 1 1 p36 1136569 1139375 - 1146706 1149548 - 730097;1580863;6480464 2828930 7737295;7510240;19029446;18987746;18941188;18843780;18798503;18723571;18660703;18645038;18501882;18398332;18397322;18374895;18327975;18174230;16750861;16710414;16456009;16380476;16329997;16232366;15941918;15808546;15778343;15638367;15592478;15489334;15470070;15301860;14644025;12624783;12478477;12477932;12296857;12134113;11929124;11567634;11479622;11470287;11346458;10861060;10626892;9488716;9418902;7749983;7704935;21111564;23216302;20485444;21086790;19538134;20139223;20306696;20331378;20376799;20400327;20634005;21143648;21289304;19253527;22204816;21476935;21820713;22343199;22282196;23674671;22646697;23469620;23128233 7293 P43489 ABBA01016022;ABBA01016023;AJ277151;AL162741;AMYH01000117;AW290885;AW293499;BC040257;BC105070;BC105072;CH471183;DQ118974;NM_003327;S76792 AAB33944;AAI05071;AAI05073;AAZ15374;CAB96543;EAW56278;EAW56279;EAW56280;EAW56281;NP_003318;P43489 Hs.129780 ACT35;CD134;OX40;TXGP1L ACT35 antigen;ATC35 antigen;CD134 antigen;OTTHUMP00000001522;OX40 antigen;OX40 cell surface antigen;OX40 homologue;OX40L receptor;TAX transcriptionally-activated glycoprotein 1 receptor;lymphoid activation antigene ACT35;tax-transcriptionally activated glycoprotein 1 receptor;tumor necrosis factor superfamily, member 4;tumor necrosis factor receptor superfamily member 4 APPROVED protein-coding ENSG00000186827 11918 02636 600315 REVIEWED 737226 TNFRSF8 tumor necrosis factor receptor superfamily, member 8 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 1 1 p36 12046021 12126851 + 12123434 12204264 + 734719;1580863;2312735;6480464 1310894;10192335 21181928;8627180;16108830;19415777;19243308;19131627;19126420;19100394;19100393;19040559;19032830;19010142;18983807;18926413;18793267;18714536;18689277;18589105;18365380;18320364;18201430;18187570;18165785;18049429;18047935;17973241;17965727;17912490;17889168;17853188;17853184;17616534;17557078;17241668;17175368;17175343;17103120;16980071;16842522;16771810;16722935;16651853;16641601;16378078;16372246;16108827;15996240;15990453;15964393;15919463;15880060;15876358;15782119;15644135;15356338;15301860;17106517;21186345;15291361;15265955;15175022;15050749;15033921;15026356;14726963;12875982;12799531;12648280;12568298;12557237;12553555;12477932;12389614;12165500;12091351;11986285;11971184;11960307;11918534;11891807;11754357;11728464;10764746;10641597;9511754;9353251;9168896;9104814;8999898;8839832;8183550;7527901;6754630;2537734;1330892;8662842;22451116;20625494;20166880;16244703;19540595;19641626;19765439;19773279;19782609;19862340;19890350;19898220;20036333;20061689;20237496;20353374;20379614;20568250;20814632;20631311;20591497;20430176;23545938;20600901;20600903;20620210;19593445;22628304;23028875;21505378;16147992;21261503;21376809;21860351;22715589;23039325;22759804;22446727;22472952;22182633;21986812;22369302;23244086;23119111;23343832;22193227;22940451;23079227;23654079 943 D3YTD8;D6RAG8;P28908 ABBA01003072;ABBA01003073;ABBA01003074;AJ272029;AJ289159;AL357835;AMYH01000261;AY498860;BC063482;BC073839;BC136400;BC141804;BC171762;CH471130;D86042;HI179076;HI179078;HI574144;HI574146;M83554;NG_029573;NM_001243;NM_001281430;NM_152942;S75768 AAA51947;AAD14188;AAH63482;AAH73839;AAI36401;AAI41805;AAR32099;BAA12973;CAC03488;CAC16652;CBX47561;CBX47562;CBX53846;CBX53847;EAW71730;NP_001234;NP_001268359;NP_694421;P28908 Hs.1314 1664629;1737163;1740591;1744683;1745975;1798286;2147001 D11S3023;D1S3098;D1S3251;GDB:549221;RH124848;SHGC-74226;TNFRSF8_1685 CD30;D1S166E;Ki-1 CD30 antigen;CD30L receptor;Ki-1 antigen;OTTHUMP00000001783;OTTHUMP00000221481;cytokine receptor CD30;lymphocyte activation antigen CD30;tumor necrosis factor receptor superfamily member 8 APPROVED protein-coding ENSG00000120949 11923 01074 153243 REVIEWED 1601902 TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. [provided by RefSeq, Jul 2008] 17 17 p13.1 7393140 7405649 + 7452375 7464925 + 15846369;12411489;12370363;11571266;10973284;10956646;10706119;9743536;20967262;19913121;20628086;14555217;17307753;18295728;18474519;22197929;22558069;22864923;23118916 407977 O43508 ABBA01054872;ABBA01054873;AC016876;AI954750;AMYH01008084;AY081051;BQ016244;NM_172089 AAI56812;AAL90443;NP_742086 Hs.54673 1655535;1678335;1796978;2129984 RH16009;RH98958;SHGC-56910;TNFSF12_268.2 TWE-PRIL OTTHUMP00000220414;TNFSF12-TNFSF13 protein;tumor necrosis factor (ligand) superfamily, member 12-member 13 APPROVED protein-coding ENSG00000239697;ENSG00000248871 33537 05128;18205 REVIEWED 1353622 TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011] 20 20 q13.3 61796732 61800481 + 62328004 62330051 + 1580863;6480464 10318773;9872321;19623168;19305072;19269042;19246462;19204726;19093253;18991242;18813347;18758464;18757243;18695885;18676680;18562337;18376232;18349319;18256354;18251184;18006694;17968950;17687076;17493146;17393415;17010447;16210617;16040301;15661928;15627206;15489334;15475369;15301860;15215185;14697332;14688085;14657214;14634066;14500635;12975309;12794752;12761893;12477932;12471113;12466117;12397645;11994433;11911831;11780052;11181995;10655513;10470851;11390428;21699018;22524850;21300286;20597837;19483191;19587706;19644047;19748482;19821006;20007581;20187130;20392250;21155709;19913121;20567955;20628086;20591579;20962851;16341674;20675196;20977315;21297633;17802823;21079743;22672288;21672030;21395182;20645287;21537832;22325083;22581854;21293109;22626963;22287720;22886559;23128233 8771 O95407 ABBA01021416;AF104419;AF134240;AF217794;AF217796;AL121845;AL353715;AMYH01012089;AW204999;AY358279;BC017065;BC034349;BM759033;CH471077;NM_003823 AAD03056;AAD29688;AAF33686;AAF35244;AAH17065;AAH34349;AAQ88646;EAW75242;EAW75243;EAW75244;EAW75246;EAW75247;EAW75248;NP_003814;O95407 Hs.434878 2108587 TNFRSF6B_2708 DCR3;DJ583P15.1.1;M68;M68E;TR6 OTTHUMP00000031583;decoy receptor 3;decoy receptor for Fas ligand;tumor necrosis factor receptor superfamily member 6B APPROVED protein-coding ENSG00000243509 11921 04527 603361 REVIEWED 1312546 TNFRSF9 tumor necrosis factor receptor superfamily, member 9 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008] 1 1 p36 7902494 7923474 - 7975931 8003225 - 1580863;6480464 8262389;8639902;19211796;18838252;18768897;18668547;18645038;18519814;18276843;18024793;17878400;17878391;17309825;16710414;16596186;16232366;15941918;15638367;15618293;15489334;15353478;15340161;15308117;15301860;15031666;14716821;13130507;12645943;12516549;12477932;12384425;12356681;12101260;12009595;11970964;11828369;11804328;10604232;10556203;9607925;9541583;9464265;9418902;9207223;9045669;8088337;7622190;21396356;2784565;21745658;19406689;19573080;19759901;19773279;20008291;20026323;20190752;20237496;20347151;15342556;20616340;20568250;19913121;20628086;20643812;21669186;21297633;23204227;21963611;22282196;22326955;22343053;21670469;22204816;21890473;22343199;22144129;21747409;22593548;23000965;23128233;22896640;22901750 3604 AAB34924;K7EJ11;K7EJQ2;Q07011 ABBA01035496;ABBA01035497;AK125490;AL009183;AMYH01000225;AW449076;AY438976;BC006196;BP381234;CH471130;L12964;NM_001561;U03397 AAA53133;AAA62478;AAB34924;AAH06196;AAR05440;ABM83623;ABM87245;BAC86181;EAW71590;NP_001552;Q07011 Hs.738942;Hs.86447 1653595;1679341;1849828;2184798;5015619;5037552 D11S3114;D8S2279;RH17617;RH64183;RH91876;SHGC-35316 4-1BB;CD137;CDw137;FLJ43501;ILA;MGC2172 4-1BB ligand receptor;CD137 antigen;OTTHUMP00000001360;T cell antigen ILA;T-cell antigen 4-1BB homolog;T-cell antigen ILA;homolog of mouse 4-1BB;induced by lymphocyte activation (ILA);interleukin-activated receptor, homolog of mouse Ly63;receptor protein 4-1BB;tumor necrosis factor receptor superfamily member 9 APPROVED protein-coding 11924 03767 602250 REVIEWED 1350160 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] 17 17 p13 7393099 7401931 + 7452375 7461207 + 1580863;6480464 21303425;21330486;14961121;9560343;19349318;19018248;18992019;18945991;18945822;18606850;18465450;18174230;17981571;17918252;17548657;17383968;17178215;17124496;17018610;16526941;16503147;15735761;15681834;15611130;15604260;15489334;15353286;15140220;15056843;12975309;12787562;12496418;12477932;12445828;12421989;11839778;11777967;11728344;11094155;10706675;10085077;9405449;16888023;22009442;22672874;21163672;21190865;21211989;21334074;21130992;19000449;20303491;20430947;12529173;19233685;19398263;19473660;19482507;19505454;19531747;19773279;19785730;19828625;19854517;19895311;19963275;20164033;20299688;20385556;21249128;20189297;20382683;21968693;20004376;20610643;20726330;20810696;21211655;21153335;21153336;21153337;20358293;21681381;22937125;22727560;21765951;21788066;21525013;22819243;21483105;21797919;21693297;21479966;21884467;22438963;22055894;22081603;21435232;21691937;23493554;22356682;21962403;22309961;22278019;22719208;21697814;23288170;23438059;23524849;22767506;22896023 8742 C0H5Y4;O43508;Q4ACW9 AB222993;ABBA01054872;ABBA01054873;AC016876;AF030099;AF055872;AI091441;AMYH01008084;AY358870;BC019047;BC071837;BC104420;CH471108;NM_003809;NR_037146 AAC39724;AAC51923;AAH19047;AAH71837;AAI04421;AAQ89229;ADZ15981;BAE16557;EAW90179;NP_003800;O43508 Hs.54673 1678335;1796978 RH98958;TNFSF12_268.2 APO3L;DR3LG;MGC129581;MGC20669;TWEAK APO3 ligand;APO3/DR3 ligand;OTTHUMP00000135287;OTTHUMP00000205659;TNF-related WEAK inducer of apoptosis;tumor necrosis factor ligand superfamily member 12 APPROVED protein-coding ENSG00000239697 11927 04074 602695 REVIEWED 1344832 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 3 3 q26 173706158 173723963 - 172223298 172241297 - 1580863;2312743;2312742;2312747;2312737;2312746;2290500;2312738;2312739;2312740;2312744;4143170;2312745;4143171;6480464;6484113;6907045 12882912;17000905;16313792;19572802;17641850;14872496;18649770;18287563;18057577;12577054;17403612;19385008;19961901 16607283;16574768;16518756;16514644;16478725;16459719;16455983;16449964;16436464;16382051;16368536;16289694;16288714;16245299;16229016;16226105;16215673;16206163;16199534;16180223;16178278;16174727;16166346;16116625;16082383;16041267;16040132;16037944;16026644;16007425;15996036;15962328;15916713;15887227;15884050;15828026;15809718;15806163;15792357;15774464;15767553;15760909;15757891;15688023;15681838;15671071;15655781;14644197;8777713;8663110;12761501;10894160;19629467;19573080;19519609;19481529;19453261;19435900;19418484;19412666;19406930;19404407;19385057;19361506;19349211;19309556;19289465;19281785;19265041;19261616;19221598;19212626;19203346;19197243;19147771;19106633;19074831;19074436;18942021;18922903;18838202;18834856;18814951;18802096;18780288;18772312;18726983;18723061;18644981;18640940;18599488;18599181;18566412;18522940;18519235;18502726;18491232;18483205;18474604;18451172;18430896;18424742;18413764;18385934;18375389;18362891;18362888;18348311;18343496;18341587;18339897;18338379;18330721;18314443;18284918;18266968;18266928;18233993;18202704;18187663;18178561;18174230;17803681;17767167;17765202;17703232;17702740;17701086;17697742;17686764;17683987;17638906;17617740;17583676;17579120;17571163;17558561;17553352;17548900;17544413;17540725;17525260;17513605;17495957;17479107;17431792;17431115;17420249;17384675;17356300;17352408;17314102;17278883;17195089;17187253;17110373;17079165;17070520;17012835;16951203;16950202;16941746;16887991;16863850;16857810;16831934;16820090;16807984;16785986;16751802;16731632;16645643;16627981;15637055;15634757;15615731;15607733;15569667;15558024;15557763;15539085;15531913;15520016;15511228;15509531;15498932;15489334;15475369;15459191;15459016;15361826;15339846;15326479;15308561;15292354;15286701;15285015;15257094;15256058;15251327;15241475;15205263;15201983;15137068;15110168;15094456;15093732;15077162;15064358;15041704;15033706;15030996;14742697;14729397;14726404;14715264;14691451;14675194;14670183;14647456;14645705;14637151;14601052;14534533;12969966;12934102;12927928;12920112;12915677;12915532;12907654;12874246;12839575;12813457;12808117;12787570;12767990;12761581;12738989;12715915;12707267;12663665;12642868;12604406;12592338;12576447;12574346;12556488;12539042;12532461;12517970;12496482;12488957;12477932;12447876;12445619;12439929;12429913;12421989;12421985;12421926;12414956;12407100;12398939;12359235;12351634;12221720;12198154;12140294;12118245;12097388;12097384;12082629;15653751;18089811;18063697;18031928;18006836;18006832;18006822;17983809;17982483;17956986;17947462;17940338;17932312;17913827;17907960;17900262;17895594;17884184;17881904;20734142;21209944;12082620;12036888;12029096;11994437;11964312;11956660;11940602;11936954;11877293;11852102;11844843;11830480;11781716;11739488;11677236;11568006;11553609;11466352;11385301;11243698;11095979;11059770;11027498;11022932;10960444;10651627;10549288;10542098;10485660;9830064;9754559;9613612;9520411;9430226;9325248;9314565;9311998;9242610;9082980;8793301;16046522;15990565;11094155;16169070;15451437;15619633;22471587;20339295;21211989;21381010;20852190;21426505;19058836;19533303;17554866;18243765;19223770;19236007;19270498;19294332;19305384;19398149;19407827;19427028;19449143;19470406;19476940;19540229;19587531;19597472;19632771;19671825;19674787;19690337;19724854;19749795;19773279;19782681;19802013;19854352;19890662;19896469;19948942;19954364;19954896;19956887;19962668;19962958;19967427;20007807;20042498;20119620;20123409;20150555;20154087;20189551;20204286;20237496;20308427;20334827;20394499;20417200;20443055;20393185;20424169;20638385;20354842;20580868;20560677;20372797;20580220;20671119;20811726;21064084;22072062;22266862;22345097;22398750;16344560;20400979;20379197;20839416;21047948;20628624;20638129;20568250;20802294;20819778;20961336;21769834;23071256;19767219;20838376;21160038;21167276;21255088;21368892;22948392;23392805;23703388;21437625;21603612;21697087;20430391;21248767;21156789;21291526;21305500;19379558;21435442;21454681;20977779;22914768;22719861;21183948;21482133;21437722;21706325;22023762;21525012;21802664;21317160;22310286;22354145;23319802;23437333;21622121;21760914;22554587;21465464;21695716;21993926;22034880;21279373;21485546;21824395;21059290;21538027;21846721;21859711;21926463;21554547;21952139;21769428;22783581;21822306;22922789;21732015;22110611;22202560;22322844;22408249;21086019;21107885;21120579;21125311;21480222;21670755;21941373;22159760;22320196;22328338;22698523;21864851;21988644;22194780;22384114;22449797;22462553;22496450;22542907;23085529;23014529;23096115;23408429;22899350;23375756;21308719;17938258;18220834;19050264;19812265;20862322;21483669;22392486;22585859;22898820;23018355;22729471;22883061;23142077;23277172;23667901 8743 H7C246;P50591;Q6IBA9 ABBA01058648;AC007919;AC016938;AF178756;AK296085;AK312742;AMYH01013652;AY312579;BC009795;BC020220;BC032722;BT019564;CH471052;CQ892411;CR456895;CS276168;DA041872;DA969653;DQ848564;EF064708;EU183231;HA637646;JA362607;NM_001190942;NM_001190943;NM_003810;NR_033994;U37518;U57059 AAB01233;AAC50332;AAH32722;AAR16184;AAV38371;ABI24016;ABK41891;ABM81799;ABM84955;ABW24658;BAG35612;BAG58840;CAG33176;CAH68809;CAL33971;CAZ39545;CCA94584;EAW78465;EAW78466;EAW78467;NP_001177871;NP_001177872;NP_003801;P50591 Hs.478275 1796976;1848185;2148068 RH66570;SHGC-77549;TNFSF10_266 APO2L;Apo-2L;CD253;TL2;TRAIL Apo-2 ligand;OTTHUMP00000211018;OTTHUMP00000211019;TNF-related apoptosis inducing ligand TRAIL;TNF-related apoptosis-inducing ligand;chemokine tumor necrosis factor ligand superfamily member 10;tumor necrosis factor (ligand) family, member 10;tumor necrosis factor apoptosis-inducing ligand splice variant delta;tumor necrosis factor ligand superfamily member 10 APPROVED protein-coding ENSG00000121858 11925 04670 603598 REVIEWED 1347343 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008] 13 13 q14 42043795 42080148 + 43136872 43182149 + 1625350;1580863;2302361;2302324;2302363;6480464;6484113;6907045;7240710 17002564;18417124;18592139 9568710;9312132;9367155;17241109;10708588;19554506;19548455;19453261;19416721;19401376;19379170;19352306;19325145;19299513;19299182;19298221;19190327;19185505;19170075;19158438;19131500;19112497;19105036;19085839;19079262;19073256;12756027;12702561;12698202;12682046;12619938;12574344;12564836;12477932;12469211;12393684;12393586;12364326;12221720;12043011;11792569;11741951;11606048;10635328;10580503;10224132;9520411;9396779;15320903;15449141;11751921;19008470;18928898;18802807;18767923;18754324;18727653;18710934;18668542;18645583;18634923;18617513;18606662;18586671;18565252;18565244;18556224;18539107;18528653;18502820;18480302;18445777;18435789;18406448;18399769;18389210;18381203;18369625;18367263;18362509;18361931;18319315;18311801;18305214;18301383;18298349;18271850;18253488;18208894;18174230;18172654;18073309;18072013;18064531;18061491;17993768;17990294;17982618;17970704;17966895;17895323;17891780;17881498;17876645;17852826;17703334;17702740;17667143;17634142;17634140;17632511;17620507;17606458;17593489;17572386;17560137;17558893;17520299;17506059;17448630;17331078;17328075;17328065;17288531;17197168;17195907;17151927;17133360;19058084;17053039;17042716;17018528;16969487;16953816;16925460;16861684;16730419;16704959;16700737;16681444;16612568;16583245;16572175;16533764;16522681;16317958;16270354;16249885;16240334;16234249;16220542;16215261;16144909;16143421;16133687;16109714;16052586;15972386;15894268;15794927;15732858;15731115;15722361;15710592;15671541;15615497;15615493;15613999;15564564;15554353;15489334;15476205;15377473;15322748;15313187;15304486;15292354;15290725;15221493;15205949;15044512;14751235;14734048;14699143;12975380;12954625;12923331;12824189;12817763;21193069;21514280;21259010;22490874;22053710;21991382;22049226;22268274;17580719;20932948;21370405;21159831;20225273;15248232;18606301;20033478;21533022;19058836;20663885;20167120;19716455;20084381;20890036;20690034;19913121;20534768;20554715;20628086;20631064;16191370;19415676;19446344;19449178;19458885;19473572;19502537;19546479;19556344;19633200;19662974;19671684;19699688;19705167;19781765;19793762;19810098;19877052;19896533;19934266;19940926;19967657;20066901;20157786;20205168;20231205;20237496;20333869;20379614;20431232;20531232;20533289;20881963;21102463;21124946;20974615;19847430;20506157;20506523;20718662;21802729;21903860;18589796;21328467;21074311;21371424;21327451;21748518;21326202;20848544;19134349;20412401;22753650;21992185;22027240;22120987;22627031;22634178;21413932;21327765;21087777;21814024;21814025;21814026;21814016;21814018;21814019;21814020;21814021;21814022;21814023;21474331;21479768;21565793;21880134;22001292;21561598;23509146;21479680;21742767;20416172;21316442;21331661;21643971;22023082;22025323;22172512;22326262;22034880;21352301;21547906;21649792;21777519;21964949;22102368;22116393;22278426;21692859;21900206;21850548;21810381;21941412;22709525;23244167;23439434;20861651;21359671;21401926;21725611;22242921;21290130;22278625;22402034;22546829;22664871;22792071;22698523;22001124;22176920;21708014;21963155;21970938;22119834;22185226;22531921;22207352;22330139;22705116;22715006;23183242;23139212;23176170;22936827;23267146;22867712;22989723;23178378;21868322;22214279;22592030;23190522;23396210;23336103;22848465;22955577;23241893;22556124;23600327;23077504;23329761;23437003;18160010;20869948;21328055;22952578;23018352 8600 O14788;Q54A98;Q5T9Y4 AA504211;AB037599;AB061227;AB064268;AB064269;AB064270;ABBA01021250;AF013171;AF019047;AF053712;AL139382;AMYH01005072;BC040889;BC074823;BC074890;BC117286;BC117288;BQ007726;CH471075;CS110677;GM980137;NG_008990;NM_003701;NM_033012 AAB86811;AAC39731;AAC51762;AAH74823;AAH74890;AAI17287;AAI17289;ADR83357;BAA90488;BAB71768;BAB79693;BAB79694;BAB79695;CAJ09926;CAX24322;EAX08679;EAX08680;EAX08681;NP_003692;NP_143026;O14788 Hs.333791 1298148;1697046;1754213;1798288 D13S325;RH102002;SHGC-132244;TNFSF11_2446 CD254;ODF;OPGL;OPTB2;RANKL;TRANCE;hRANKL2;sOdf OTTHUMP00000018328;OTTHUMP00000178585;TNF-related activation-induced cytokine;osteoclast differentiation factor;osteoprotegerin ligand;receptor activator of nuclear factor kappa B ligand;receptor activator of nuclear factor kappa-B ligand;tumor necrosis factor ligand superfamily member 11 APPROVED protein-coding ENSG00000120659 11926 04031 259710;602642 REVIEWED 1345205 TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] 13 13 q32-q34 107719978 107757366 + 108921977 108960832 + 1580863;6480464;6907045 21145253;10359578;10908663;19439611;19421221;19383901;19366834;19339060;19291294;19249491;19190830;19168788;19135236;19124722;19118513;19074885;19051265;19026118;19005881;18988879;18852352;18843286;18784835;18775026;18718031;18715196;18687360;18668552;18641361;18628489;18625509;18617551;18606652;18586330;18566393;18556064;18551073;18528969;18490739;18410958;18403603;18366696;18350548;18328673;18249037;18243342;18204790;18174230;18172003;18064389;18050196;17988587;22340436;17942754;17908986;17907168;17896803;17825416;17640886;17592744;17584580;17556024;17530706;17469105;17442944;17393290;17346422;17296586;17257595;17119117;16931039;16931038;16931037;16919470;16916610;16916609;16914324;16863659;16840730;16838132;16825497;16818641;16802367;16740602;16623930;16604261;16547227;16507129;16497967;16475789;16356193;16304043;16301744;16242914;16239971;16052575;15981083;15860672;15843552;15827134;15728515;15634908;15542592;15489334;15470519;15358625;15251985;15230285;15070697;14978135;14673998;14630796;14607922;14504101;12975309;12867412;12865416;12755599;12721620;12715002;12531790;12477932;12424625;12408045;12389615;12370363;12351410;12154359;12149433;12115621;11862220;11853672;11827482;11823048;17947475;22325420;22516957;21707303;11714784;11509692;11509691;10973284;10801128;10661873;10398604;10347144;10331498;10956646;10880535;20561430;21211990;21239754;17963166;18637712;19028483;19175985;19187273;19393234;19395025;19499314;19545677;19565488;19604268;19758161;19773279;19774453;19794139;19828625;19840904;19841639;19863844;19877053;19909733;19935379;20004378;20089415;20237496;20568250;20802378;20813000;20927378;20956327;20357250;20546021;20646006;20302641;20428981;20974656;22728080;22898048;20870901;21039888;20890272;19731825;21051868;21765951;20935029;22927996;22749832;22883025;22018243;22719887;22896003;23272079;22851468;21537154;21632709;21177756;21747319;21483105;21557212;21372118;21628416;21849293;21538321;21883351;21518495;21790703;22059379;22399512;21505913;22124120;22531553;23264555;23342125;22102726;21733733;22338013;22463935;22498341;22575417;21889147;21293157;21559937;22593611;22526370;23303823;22537850;22822003;22736090;23271704;22879463;23276925;21832049;22718279;22169295;22850273;23039894 10673 Q9Y275 AB073225;ABBA01027022;ABBA01027023;AF116456;AF132600;AF134715;AF136293;AF186114;AK309629;AL157762;AMYH01005363;AW151367;AW963062;AY129225;AY129226;AY129227;AY129228;AY302751;AY358881;BC020674;BI818459;BQ776352;BQ778438;BX482686;CH471085;CR541818;D79690;EF064706;HM636064;NG_029524;NM_001145645;NM_006573 AAD21092;AAD25356;AAD29421;AAF01432;AAF60219;AAH20674;AAN08421;AAN08422;AAN08423;AAN08424;AAP83164;AAQ89240;ABK41889;ABM82339;ABW03435;ADK91575;BAB90856;CAG46617;EAX09099;EAX09100;EAX09101;NP_001139117;NP_006564;Q9Y275 Hs.525157 2164183;5114020 RH93489;SHGC-36171 BAFF;BLYS;CD257;DTL;TALL-1;TALL1;THANK;TNFSF20;ZTNF4 ApoL related ligand TALL-1;B-cell activating factor;B-cell-activating factor;B-lymphocyte stimulator;Delta4 BAFF;OTTHUMP00000018691;TNF and ApoL-related leukocyte expressed ligand 1;TNF homolog that activates apoptosis;TNF- and APOL-related leukocyte expressed ligand 1;b lymphocyte stimulator;delta BAFF;dendritic cell-derived TNF-like molecule;tumor necrosis factor (ligand) superfamily, member 20;tumor necrosis factor ligand superfamily member 13B;tumor necrosis factor superfamily, member 13b;tumor necrosis factor-like protein ZTNF4 APPROVED protein-coding ENSG00000102524 11929 04914 603969 REVIEWED 1352930 TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 19 19 p13.3 6615560 6621599 - 6663148 6670599 - 1580863;6480464 12393901;9765287;10799510;19023130;18412315;18384455;18320356;18292573;17938804;17826757;17652173;17543278;17010447;16934497;16861346;16186421;15944326;15917993;15895390;15833878;15634882;15489334;15215185;15210782;15115612;12975309;12768436;12767529;12571250;12477932;12471113;12466117;12456019;12215452;11994433;11748260;11742858;11714797;11673523;11390428;11035077;10318773;9739048;9560343;9462508;16091223;12836198;11000208;19019090;19380287;19573080;19701890;19716382;19773279;19826934;20042587;20096889;20237496;20424473;20804734;20826693;20568250;21048031;20592286;20677014;19593445;21832049;22221541;21117871;22172512;21833088;22519595;21922073;22775554 8740 O43557 ABBA01051468;ABBA01051469;AC008760;AF036581;AF064090;AF542509;AK292037;AMYH01009377;AY028261;AY358812;BC018058;CH471139;CR541854;CR541871;CS330726;HI573998;NM_003807;NM_172014 AAC25169;AAC39563;AAI52849;AAK26160;AAN34658;AAQ89171;BAF84726;CAG46652;CAG46669;CAL00173;CBX47488;EAW69072;EAW69073;NP_003798;NP_742011;O43557 Hs.129708 1796980;5015861;5109281;7185938 D10S16;D1S1425;TNFSF14_1251 CD258;HVEML;LIGHT;LTg;TR2 delta transmembrane LIGHT;herpes virus entry mediator ligand;herpesvirus entry mediator A;herpesvirus entry mediator ligand;herpesvirus entry mediator-ligand;ligand for herpesvirus entry mediator;tumor necrosis factor ligand superfamily member 14;tumor necrosis factor receptor-like 2;tumor necrosis factor superfamily member LIGHT APPROVED protein-coding ENSG00000125735 11930 05157 604520 REVIEWED 1314162 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] 17 17 p13.1 7402340 7405642 + 7461609 7464925 + 1580863;6480464;6907045 9743536;14988498;19321861;19291294;19141538;19074885;18838478;18718031;18618015;18403603;18328673;18204790;18046446;17968879;17942754;17896803;17768131;17569747;17353162;17307753;17190854;17178712;17119122;16931039;16919470;16916610;16914324;16793914;16239971;16094704;16087247;15981083;15860672;15851487;15846369;15827134;15542592;15489334;15488762;15105291;15070697;14978135;14702039;14691452;14607922;14504101;12975309;18366696;12730512;12477932;12411489;12370363;12154359;12070306;11571266;10973284;10956646;10706119;10662545;10331498;8125298;20302641;20599414;18423122;19037609;19175985;19395025;19456850;19466596;19565488;19573080;19573525;19741596;19758161;19788740;19806256;19824872;19828625;19840904;19842833;19909733;19997650;20003335;20116334;20237496;20518823;21707303;19913121;20628086;20810514;20945608;20709908;20890272;21642598;22719887;23071284;21527528;21176341;21483105;23010686;21585290;21765951;21505913;22531553;22593611;22059379;22783569;22102726;21889147;21724695;22558069;21733733;21293157;22197929;21687682;22864923;22763977;23383143;21988832;23118916;21984075;22169295;22705846;22851468 8741 B3KR02;C9JF68;C9JFN2;K7EJ28;O75888;Q2QBA2 AB222992;ABBA01054873;AC016876;AF046888;AF114011;AF114012;AF114013;AF136294;AF184972;AF513501;AI828515;AK090698;AK225556;AK301221;AK314518;AMYH01008084;AY081050;AY358880;AY377858;BC008042;BF793371;BI764562;BI910977;BT019561;BT019562;CH471108;CR542040;CR542073;DQ149579;EF211088;HA635674;HC049981;HC086525;HH836204;NG_029949;NM_001198622;NM_001198623;NM_001198624;NM_003808;NM_172087;NM_172088;NR_073490 AAC61312;AAD29422;AAF01321;AAF59828;AAF59829;AAF59830;AAH08042;AAL90442;AAM47279;AAQ89239;AAQ91388;AAV38368;AAV38369;ABA39072;ABQ88322;ACE86739;ACE87425;BAE16556;BAG52214;BAG62794;CAG46837;CAG46870;CAZ39531;CBH32718;CBI67654;CBX33275;EAW90175;NP_001185551;NP_001185552;NP_001185553;NP_003799;NP_742084;NP_742085;O75888 Hs.54673 1655535;1678335;1796978;2129984;5024541 D1S3688;RH16009;RH98958;SHGC-56910;TNFSF12_268.2 APRIL;CD256;FLJ57090;TALL-2;TALL2;TRDL-1;UNQ383/PRO715;ZTNF2;ligand OTTHUMP00000135284;OTTHUMP00000174779;OTTHUMP00000174780;OTTHUMP00000174781;OTTHUMP00000174782;OTTHUMP00000174783;TALL-2;TNF- and APOL-related leukocyte expressed ligand 2;TNF-related death ligand 1;a proliferation inducing ligand;a proliferation-inducing ligand;tumor necrosis factor (ligand) superfamily member 13 transcript variant delta;tumor necrosis factor ligand superfamily member 13;tumor necrosis factor ligand superfamily member 13 epsilon;tumor necrosis factor-like protein ZTNF2;tumor necrosis factor-related death ligand-1 APPROVED protein-coding ENSG00000161955 11928 604472 REVIEWED 737096 TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] 9 9 q32 116591421 116608229 - 117546915 117568408 - 1580863;6480464 12477932;11923219;11739281;10597252;9880523;9434163;11911831;12345;9872942;19422935;19262684;19174806;19124533;18758464;18757243;18587394;18422820;18338776;18287561;17935696;17663424;17513783;17371957;17030188;16966713;16604264;16221758;16061878;15760679;15207783;14568967;12882979;22641456;19251437;19522538;19543369;19786547;19815424;19839006;19885571;20018961;20125169;20150621;20176734;20237496;20367632;20473688;20410491;20863486;19760754;20848476;20886065;21072187;21102463;20349123;20675196;21153332;21153333;21297633;21217782;21368235;21300286;21228792;21699788;21537832;21730793;21672030;21636646;22210436;23128233;23266558;23204549;23382586;23598291;23000144 9966 O95150 ABBA01042658;AF039390;AF520785;AK291642;AK313721;AL390240;AMYH01021675;AW014795;AY434464;BC069435;BC074940;BC074941;BC104462;BC104463;CH471090;GM872837;NG_011488;NM_001204344;NM_005118 AAD08783;AAH69435;AAH74940;AAH74941;AAI04463;AAI04464;AAM77366;AAR98573;BAF84331;CAV13212;EAW87431;NP_001191273;NP_005109;O95150 Hs.23349 1713299;1796982;2160722;5022578;5037552 D1S1423;D8S2279;D9S2088;RH120641;TNFSF15_410 MGC129934;MGC129935;TL1;TL1A;VEGI;VEGI192A OTTHUMP00000022739;TNF ligand-related molecule 1;TNF superfamily ligand TL1A;tumor necrosis factor ligand superfamily member 15;vascular endothelial cell growth inhibitor;vascular endothelial growth inhibitor-192A APPROVED protein-coding 11931 04956 604052 REVIEWED 1351958 TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 9 9 q33 116704945 116732591 - 117655623 117692875 - 1580863;6480464 8391931;19208589;18689277;18636124;16964309;16372246;12553555;12477932;11960307;11754357;11751393;11728464;10878352;9558389;9524575;9349718;8161776;7528856;20568250;19573080;19657367;19773279;20237496;21102463;21292647;21297633;22033252;21480186;22628304;23128233;23266558 944 P32971;Q52M88 AA748015;ABBA01042658;AF006381;AF006382;AF006383;AF006384;AK313619;AL133412;AL583443;AMYH01021675;AW118787;BC093630;BC111939;BX108999;CD690231;CH471090;L09753;NM_001244;NM_001252290 AAA74594;AAB97877;AAH93630;AAI11940;BAG36381;EAW87432;EAW87433;NP_001235;NP_001239219;P32971 Hs.494901;Hs.654445 1796986;1846641;2127862;2144176;2176020;5024543 D1S3690;D9S1715;RH11969;SHGC-32411;SHGC-54273;TNFSF8_274 CD153;CD30L;CD30LG;MGC138144 CD153 antigen;CD30 antigen ligand;CD30 ligand;CD30-L;OTTHUMP00000022762;tumor necrosis factor ligand superfamily member 8 APPROVED protein-coding 11938 04852 603875 REVIEWED 1345164 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF4/OX4. It is found to be involved in T cell antigen-presenting cell (APC) interactions. In surface Ig- and CD40-stimulated B cells, this cytokine along with CD70 has been shown to provide CD28-independent costimulatory signals to T cells. This protein and its receptor are reported to directly mediate adhesion of activated T cells to vascular endothelial cells. [provided by RefSeq, Jul 2008] 1 1 q25 171419493 171443094 - 173152870 173176471 - 1580396;1580863;6480464;7240710 15750594 7913952;19357697;19092840;19029970;19029446;18998106;18987746;18832690;18718855;18674525;18501882;18398332;18356244;18174230;18060034;18059267;17666213;17584577;17185358;17166734;17016617;16924108;16710414;16275760;16272289;15470070;15356117;15218969;15100674;15034038;12798307;12624783;12477932;12134113;11346458;11197696;11069062;10358148;9862675;9603911;9418902;9378971;9108415;8642328;8076595;1996093;21102463;19913121;20628086;20677014;21143648;19083191;19494280;19573080;19578796;19663699;19773279;19778912;19838193;20012871;20139223;20190752;20237496;20331378;20844189;19951374;20568250;20848568;20861858;20881011;20962850;21068098;18397322;21187296;21441570;21239696;21397857;21402531;22422496;22820624;21445270;23216302;21476935;22646697;21820713;21781408;21986129;22156349;22760717;22847298;23469620;23273568;22870213 7292 P23510;Q8IV74 AB007839;AB042988;ABBA01027910;AK297932;AL022310;AMYH01001501;BC041663;BQ007105;CH471067;CR542033;D90224;NG_011477;NM_003326;X79929 AAH41663;BAA14259;BAA31196;BAB18304;BAG60249;CAA56284;CAG46830;EAW90938;EAW90939;EAW90940;NP_003317;P23510 Hs.181097 1658082;1692854;1850849;2109985;2173540 G15923;G42294;RH17450;SHGC-12820;TNFSF4_270 CD134L;CD252;GP34;OX-40L;OX4OL;TXGP1 CD134 ligand;OTTHUMP00000032704;OX40 antigen ligand;OX40L;TAX transcriptionally-activated glycoprotein 1;glycoprotein Gp34;tax-transcriptionally activated glycoprotein 1 (34kD);tumor necrosis factor ligand superfamily member 4 APPROVED protein-coding ENSG00000117586 11934 04668 603594;608446 REVIEWED 1312875 TNFSF18 tumor necrosis factor (ligand) superfamily, member 18 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008] 1 1 q23 171276983 171286726 - 173010360 173020103 - 1580863;6480464 22417213;10074428;18924213;18689545;18378892;18040044;17914571;17602748;17449724;17360848;16955181;16874737;16397134;16179414;15489334;15326137;14521928;12975309;12477932;10037686;21102463;19423540;19573080;19773279;20190752;20237496;20331378;20406964;20438785;20228835;19913121;20628086;19760754;20568250;21693309;21705620;22112394;22649191;23128233 8995 Q9UNG2 ABBA01027910;AF117713;AF125303;AK313273;AL031599;AMYH01001501;AY358868;BC069111;BC069319;BC093986;BC112032;BX473859;CH471067;CQ968998;NM_005092 AAD19695;AAD22634;AAH69111;AAH69319;AAH93986;AAI12033;AAQ89227;BAG36082;CAI38637;EAW90937;NP_005083;Q9UNG2 Hs.248197 1691810;1692846;2218102 G42261;G42290;TNFSF18_2974 AITRL;GITRL;MGC138237;TL6;hGITRL AITR ligand;GITR ligand;OTTHUMP00000032703;activation-inducible TNF-related ligand;glucocorticoid-induced TNF-related ligand;glucocorticoid-induced TNFR-related protein ligand;tumor necrosis factor ligand superfamily member 18 APPROVED protein-coding 11932 04874 603898 REVIEWED 1317070 TNIP2 TNFAIP3 interacting protein 2 TNIP2 binds to the C-terminal zinc finger domain of A20 (TNFAIP3; MIM 191163) and is involved in activation of the ERK (see MAPK3; MIM 601795) MAP kinase pathway in various cell types (Van Huffel et al., 2001 [PubMed 11390377]; Papoutsopoulou et al., 2006 [PubMed 16633345]).[supplied by OMIM, Mar 2008] 4 4 p16.3 2713185 2727859 - 2743387 2758103 - 6480464 18029035;19285159;12595760;14653779;15169888;19464428;18622428;17038805;16633345;16554025;16480954;16344560;14743216;14702039;12933576;12753905;12609966;12477932;12080044;11390377;11389905;10385526;21266526;19754427;19898481;15474016;21832049;21784860;18212736;15604093;19373254;19763089 79155 D6RGJ2;Q8NFZ5 ABBA01029490;ABBA01029491;AF372839;AJ304866;AK026176;AK096296;AL110117;AL121750;AL137262;AMYH01013883;BC002740;CH471131;DA421921;NM_001161527;NM_024309 AAH02740;AAM21315;BAB15382;BAG53250;CAC34835;CAM28233;EAW82514;EAW82515;EAW82516;NP_001154999;NP_077285;Q8NFZ5 Hs.744037 1651969;2138340 SHGC-67741;SHGC-68050 ABIN2;DKFZp434J1313;FLIP1;KLIP;MGC4289 A20-binding inhibitor of NF-kappa-B activation 2;A20-binding inhibitor of NF-kappaB activation-2;OTTHUMP00000115298;OTTHUMP00000219012;OTTHUMP00000219013;TNFAIP3-interacting protein 2;fetal liver LKB1-interacting protein APPROVED protein-coding ENSG00000168884 19118 18207 610669 VALIDATED 1343892 TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008] 19 19 p13.3 6482037 6486933 + 6531010 6535939 + 1580863;2317353;2317346;2317348;2317349;2317352;2317350;6480464 16596186;17460060;17325342;10202049;16970683;11564827 8088337;19573080;19225975;19217084;19029446;18395851;18026115;17977894;17972956;17855813;17496895;16287062;16204238;15489334;15031666;14752253;14746806;13130507;12645943;12590704;12477932;11994439;10946324;10850651;10528187;9607925;9418902;9045669;8405064;22526397;20303781;19423540;19684160;19759901;19773279;20008791;20032458;20237496;20406964;20438785;16341674;20520765;20628624;20568250;20670353;21153322;20422976;21745658;21139048;22021067;23095505 8744 P41273 ABBA01051460;ABBA01051461;AC010503;AI357267;AK313999;AMYH01009375;AMYH01009376;AMYH01009377;BC104805;BC104807;BM790119;BX107825;CH471139;NM_003811;U03398 AAA53134;AAI04806;AAI04808;BAG36711;EAW69076;EAW69077;NP_003802;P41273 Hs.1524 2129745;2156135 G15865;SHGC-35317 4-1BB-L;CD137L 4-1BB ligand;4-1BBL;homolog of mouse 4-1BB-L;receptor 4-1BB ligand;tumor necrosis factor ligand superfamily member 9 APPROVED protein-coding ENSG00000125657 11939 05861 606182 REVIEWED 1346178 TNIK TRAF2 and NCK interacting kinase Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM, Mar 2008] 3 3 3 q26.31 169180163 169578027 - 172264364 172660546 - 170780292 171178197 - 1580863;6480464;6484113 17474147;18930710;10521462;19023125;18519826;17192257;15489334;15342639;15144186;12477932;12168954;22904686;10373574;9628581;11369779;19061864;18029348;19816403;20379614;21347282;20159449;17043677;21710359;21906983 23043 C9J338;C9JVV1;F5H5M9;F5H865;Q9UKE0 AB011123;AB017115;ABBA01058667;ABBA01058668;ABBA01058669;AC026315;AC078793;AC092919;AC137517;AF172264;AF172265;AF172266;AF172267;AF172268;AF172269;AF172270;AF172271;AK026470;AK291056;AMYH01013646;AW296249;BC018093;BC019081;BC055427;BC150256;CH471052;NM_001161560;NM_001161561;NM_001161562;NM_001161563;NM_001161564;NM_001161565;NM_001161566;NM_015028;NR_027767 AAF03782;AAF03783;AAF03784;AAF03785;AAF03786;AAF03787;AAF03788;AAF03789;AAH19081;AAH55427;AAI50257;BAA25477;BAA76518;BAF83745;EAW78483;EAW78484;EAW78485;EAW78486;EAW78487;EAW78488;EAW78489;EAW78490;EAW78491;EAW78492;EAW78493;EAW78494;NP_001155032;NP_001155033;NP_001155034;NP_001155035;NP_001155036;NP_001155037;NP_001155038;NP_055843;Q9UKE5 Hs.34024 1340885;1648580;1652646;1660246;1663572;1666742;1679385;1681674;1703646;1731831;1774286;1784136;1784844;1787554;2114863;2125662;2129027;2146665;2160323;2168674;2185233;2190471;5019713 A009J09;BQ207408;D3S1417;D3S3656;D3S4130;D3S4242;G32574;RH79966;RH80729;SGC34454;SHGC-154591;SHGC-155677;SHGC-155755;SHGC-77530;SHGC-77531;SHGC-77532;SHGC-77539;SHGC-77540;SHGC-82608;STS-AA017243;STS-H66149;WI-14651;WI-17179 OTTHUMP00000213889;OTTHUMP00000213891;OTTHUMP00000213892;OTTHUMP00000213893;OTTHUMP00000213894;OTTHUMP00000213895;OTTHUMP00000213896;OTTHUMP00000213897;TRAF2 and NCK-interacting protein kinase APPROVED protein-coding ENSG00000154310 30765 18206 610005 VALIDATED 1346864 TNIP3 TNFAIP3 interacting protein 3 4 4 4 q27 119438060 119523157 - 122272017 122304926 - 122052563 122148621 - 6480464 17485448;17088249;14702039;11345586;14743216;12477932;18081698;19464428;19617629;20379614;19913121;20628086;22093807;18212736;15342556;21139048 79931 H0Y9J7;Q96KP6 ABBA01044722;AC105254;AC108027;AF277289;AJ320534;AK024815;AK290409;AK301058;AK303192;AMYH01014491;BC128408;BP335455;CD367219;CH471056;DC389224;EF585496;NM_001128843;NM_001244764;NM_024873 AAI28409;AAL02151;ABQ40006;BAB15018;BAF83098;BAG62667;BAG64285;CAC85929;EAX05263;EAX05264;EAX05265;NP_001122315;NP_001231693;NP_079149;Q96KP6 Hs.208206 1752369;2121806;2182685 D4S2416;SHGC-106299;SHGC-67750 ABIN-3;FLJ21162;LIND A20-binding inhibitor of NF-kappa-B activation 3;ABIN-3 beta;Listeria induced;OTTHUMP00000163921;OTTHUMP00000219821;OTTHUMP00000220003;TNFAIP3-interacting protein 3;TNFAIP3-interacting protein 3 beta;TNIP3 beta;listeria-induced gene protein protein-coding ENSG00000050730 19315 16268 608019 VALIDATED 7241621 TNKS2-AS1 TNKS2 antisense RNA 1 (head to head) 10 93542596 93557953 - 100507633 ABBA01021925;AL359707;AMYH01002944;XR_110437;XR_132943;XR_171865 Hs.291528 APPROVED miscrna ENSG00000228701 45173 MODEL 1319697 TNIP1 TNFAIP3 interacting protein 1 This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 5 5 q32-q33.1 150389699 150441190 - 150409504 150467221 - 1580863;6480464 11090181;9923610;19464428;19277210;19262574;19169254;18676680;18622428;18212736;17135485;17016622;16964243;16713569;16684768;16601202;16344560;16189514;15489334;15342556;15231748;14743216;14526201;12965196;12927788;12477932;12220502;12168954;10385526;9687515;8681136;7788527;21266526;19170196;19625176;19692168;19695220;19732752;19773279;19838193;19838195;20379614;20516000;20849588;21068098;15474016;22833143;22087647;21606507;21623003;20010814;20005846;23055271;23464785;22093807;18029348;21885437;21967852;22147607;21674837;22001530;17632516;21750679;21139048;21906983;11389905;18029035;19285159;22011580;22542476;21988832;22896740;23128233;23273568;12586352;23032186 10318 A4F1W8;A4F1W9;A4F1X2;A8K4N4;B7Z8K2;E7EMV7;E7EPY1;E7ET96;E7EW15;E7EW68;E7EWG2;H0YC17;Q05KP3;Q05KP4;Q15025 AB177543;AB177544;AB252970;AB252971;AB252972;AB252973;AB252974;AB252975;AB252976;AB252977;AB252978;AB252979;AB252980;AB252981;AB252982;ABBA01026268;AC008641;AJ011895;AJ011896;AK074400;AK290999;AK298685;AK299975;AK303573;AMYH01015710;AW589284;AW612566;AY012155;BC007666;BC012133;BC014008;BP254790;BX640647;CH471062;D30755;DA643531;DA752275;DA810872;DC374977;NG_030590;NM_001252385;NM_001252386;NM_001252390;NM_001252391;NM_001252392;NM_001252393;NM_001258454;NM_001258455;NM_001258456;NM_006058;U39403;U83844 AAB41438;AAC99999;AAG42154;AAH12133;AAH14008;ABM84393;ABM87339;BAA06416;BAF34946;BAF34947;BAF48787;BAF48788;BAF48789;BAF48790;BAF48791;BAF48792;BAF48793;BAF48794;BAF48795;BAF48796;BAF48797;BAF48798;BAF48799;BAF83688;BAH12846;BAH13185;BAH13988;CAA09855;CAA09856;CAE45793;EAW61688;EAW61689;EAW61690;EAW61691;NP_001239314;NP_001239315;NP_001239319;NP_001239320;NP_001239321;NP_001239322;NP_001245383;NP_001245384;NP_001245385;NP_006049;Q15025 Hs.355141;Hs.731557 1681542;1740505;2107693;2136208;2151091;2160895;2167926 D5S2296E;D5S2369;D5S2702;RH25338;STS-D30755;TNIP1__5109;WI-12122 ABIN-1;KIAA0113;NAF1;VAN;nip40-1 A20-binding inhibitor of NF-kappa-B activation 1;HIV-1 Nef-interacting protein;Nef-associated factor 1 SNP;OTTHUMP00000224610;OTTHUMP00000224611;OTTHUMP00000224612;OTTHUMP00000224613;OTTHUMP00000224614;OTTHUMP00000224615;OTTHUMP00000224616;OTTHUMP00000224617;OTTHUMP00000224618;TNFAIP3-interacting protein 1;hVAN;nip40-1;virion-associated nuclear shuttling protein;virion-associated nuclear-shuttling protein APPROVED protein-coding ENSG00000145901 16903 09216 607714 REVIEWED 1312811 TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 10 10 q23.3 93548049 93615012 + 93558151 93625232 + 1580863;6480464 18393764;18026951;16151859;15795250;15164054;14702039;12080061;11854288;11802774;11739745;11454873;11294570;11278563;11205898;21145461;10988299;16385451;19766477;20237496;20549820;20937264;21048031;19759537;22449978;21799911;22153077;21139048;21890473;21906983;22053931 80351 Q9H2K2 ABBA01021924;ABBA01021925;AF264912;AF305081;AF309033;AF329696;AF342982;AF438201;AK023746;AK314612;AL359707;AL833676;AMYH01002944;BQ019749;CH471066;NM_025235 AAG25674;AAG44694;AAI48499;AAI56932;AAK13463;AAK25811;AAK82330;AAL40795;BAB14665;BAG37180;EAW50105;NP_079511;Q9H2K2 Hs.329327 1646848;1649674;1664650;1683990;1687469;1847204;1855501;2154494;5123913;5126759 D10S2170;HSC0JF072;NIB351;R58932;RH45093;RH64715;RH68352;RH78232;SHGC-53837;WI-16054 ARTD6;PARP-5b;PARP-5c;PARP5B;PARP5C;TANK2;TNKL;pART6 ADP-ribosyltransferase diphtheria toxin-like 6;OTTHUMP00000020090;TNKS-2;TRF1-interacting ankyrin-related ADP-ribose polymerase 2;poly [ADP-ribose] polymerase 5B;tankyrase 2;tankyrase II;tankyrase-2;tankyrase-like protein;tankyrase-related protein protein-coding ENSG00000107854 15677 06182 607128 VALIDATED 1320828 TNK1 tyrosine kinase, non-receptor, 1 The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 17 17 17 p13.1 7310277 7319007 + 7225089 7233816 + 7284293 7293093 + 1580863;6480464 10873601;8632913;18830724;17471239;16344560;15489334;12477932;8125298;15778465;20090780;20413850;20534741;20574532;21536687;21890473;21906983 8711 I3L334;Q13470 ABBA01054862;AC113189;AF097738;AI810287;AK225403;AK310684;AK311063;AMYH01008078;BC035782;CH471108;DA089305;DB287365;NM_001251902;NM_003985;U43408 AAC50427;AAC99412;AAH35782;ABM82156;ABM85340;EAW90203;EAW90204;NP_001238831;NP_003976;Q13470 Hs.203420;Hs.739114 1678393;1681516;2117142 RH17416;RH79604;RH93312 MGC46193 CD38 negative kinase 1;non-receptor tyrosine-protein kinase TNK1 APPROVED protein-coding ENSG00000174292 11940 09730 608076 REVIEWED 1346409 TNK2 tyrosine kinase, non-receptor, 2 This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008] 3 3 q29 197074633 197120277 - 195590236 195635880 - 1580863;6480464 8497321;10360579;19167335;10587647;19144635;18477472;18435854;18262180;17494760;17109515;17081983;17038317;16777958;16316319;16288044;16247015;16137687;15951569;15592455;15489334;15308621;15146197;15123659;14733946;14506255;12522270;12477932;11394904;11278436;11087735;10882715;10684602;10652228;8647288;8125298;11700021;22553920;22566699;20359967;10802735;11799118;16169070;19815557;20086093;20110370;20432460;20333297;20936779;18993068;23208506;21129804;21309750;11157984;16257963;21418896;21139048;22322295;22586264;17182860;15175157;15964811;18271526;19798056;22952966 10188 B3KXJ4;C9J1X3;C9JDG3;C9JIR5;F8WER3;H0Y5H7;H7BZM8;H7BZZ3;H7C343;H7C412;Q07912 AB209338;ABBA01018427;ABBA01018428;AC124944;AK024904;AK126712;AK127455;AK131539;AK225786;AK309332;AMYH01013789;AMYH01013790;BC008884;BC020389;BC028164;BE676668;BG742978;CH471280;CN411136;L13738;NG_029779;NM_001010938;NM_005781 AAA53570;AAH08884;AAH28164;AAI56799;BAD18675;BAD92575;BAG54506;EAW50333;EAW50334;EAW50335;EAW50336;EAW50337;NP_001010938;NP_005772;Q07912 Hs.518513 1771937;5015861;5021712;5037552;5037554;5115846;7185938 D10S16;D8S2279;D8S2282;STS-R44803;ksks336;ksks337 ACK;ACK-1;ACK1;FLJ44758;FLJ45547;p21cdc42Hs ACK-1;OTTHUMP00000208563;OTTHUMP00000208564;OTTHUMP00000208565;OTTHUMP00000208566;activated CDC42 kinase 1;activated Cdc42-associated kinase 1;activated p21cdc42Hs kinase;tyrosine kinase non-receptor protein 2 APPROVED protein-coding ENSG00000061938 19297 06104 606994 REVIEWED 1323786 TNKS1BP1 tankyrase 1 binding protein 1, 182kDa 11 11 11 q12.1 54426072 54451439 - 56823679 56848989 - 57067103 57092413 - 1580863;6480464 11854288;17617028;17081983;16964243;16244666;15652747;15345747;15302935;12693554;12477932;12168954;12080061;11214970;17452450;18377426;23383273;22863883;22939629;20360068;21139048;19542561;22586326;19558367 85456 E9PKE7;E9PKK0;Q9C0C2 AA614752;AB051528;ABBA01021468;AF441771;AK074113;AK124903;AK127871;AMYH01003651;AP000781;BC023622;BC046216;BC150333;CH471076;CT003184;NM_033396 AAH23622;AAH46216;AAI50334;AAM15531;BAB21832;BAB84939;BAC85989;BAG54589;EAW73731;EAW73732;EAW73733;NP_203754;Q9C0C2 Hs.530730 1665769;1672336;1678177;1742547;1769728;1777268;2129029;2177834;2218614;7185405 D11S4373;D11S446;GDB:197864;RH17745;RH47161;SHGC-30227;SSRP1;SSRP1_3468;WI-9146 FLJ45975;KIAA1741;TAB182 182 kDa tankyrase-1-binding protein;OTTHUMP00000234765;OTTHUMP00000234766;tankyrase 1-binding protein of 182 kDa protein-coding ENSG00000149115 19081 06164 607104 VALIDATED 1343497 TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 8 8 p23.1 9450855 9677266 + 9413445 9639856 + 1580863;6480464 9822378;12768206;18436240;17026964;18221737;11739745;11278563;11454873;18676680;18470924;18026951;17561506;16884355;16132700;16076287;15795250;15133513;15064417;14966275;14596906;12477932;12475993;12381316;12080061;11854288;11802774;10988299;10523501;10198177;9110174;8619474;11382755;22154485;20696165;19170196;19615732;19625176;19692168;19759176;19766477;19773453;19996280;20056641;20237496;20379614;20421936;20508983;20937264;21037379;20811689;21314979;19759537;22864114;23277359;17043677;21987572;22013039;20811636;21799911;21455637;22438990;19245366;22153076;23502783;23583392;22645305;21818122;21139048;21890473;21478859;22699936;22916037 8658 E5RHD2;E7EQ52;E7EWY6;H0YAW5;O95271 AB209339;ABBA01026898;ABBA01026899;ABBA01026900;ABBA01026901;AC021242;AC103834;AC103877;AC104052;AF070613;AF082556;AF082557;AF082558;AF082559;AK301798;AK302031;AK302534;AL706619;AMYH01018467;AMYH01018468;AMYH01018469;AMYH01018470;AMYH01018471;BC023578;BC098394;CH471157;NM_003747 AAC79841;AAC79842;AAC79843;AAC79844;AAH98394;BAD92576;BAG63250;BAG63428;BAG63806;EAW65579;EAW65580;NP_003738;O95271 Hs.370267 1651558;1651560;1671611;1695282;1699568;1701280;1713159;1775462;1786578;2117272;2122074;2147913;2148208;5014051;5016179;5037552 A005X23;D8S2278;D8S2279;G20573;G59681;HSC2QE062;RH103385;RH104269;RH11883;RH120367;RH18302;RH44938;SHGC-132382;SHGC-24414;SHGC-63000;UniSTS:45338 ARTD5;PARP-5a;PARP5A;PARPL;TIN1;TINF1;TNKS1;pART5 ADP-ribosyltransferase diphtheria toxin-like 5;OTTHUMP00000115550;OTTHUMP00000224675;TANK1;TNKS-1;TRF1-interacting ankyrin-related ADP-ribose polymerase;poly [ADP-ribose] polymerase 5A;tankyrase I;tankyrase-1 protein-coding ENSG00000173273 11941 04490 603303 VALIDATED 731806 TNMD tenomodulin This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009] X X q21.33-q23 99726446 99741538 + 99839790 99854882 + 1580863;6480464 19381347;12975309;19524323;18982016;18838562;18580688;17495183;15772651;15342556;12477932;11357195;11162673;11162640;15150318;15950187;16019413;17627542;19602561;22700804 64102 Q9H2S6 AB055421;ABBA01064153;AF191770;AF234259;AF291656;AL035608;AMYH01022719;AY358706;BC034030;BP319044;CH471115;NG_013266;NM_022144 AAG28395;AAG49144;AAK83109;AAQ89069;BAB21756;EAX02806;EAX02807;EAX02808;NP_071427;Q9H2S6 Hs.132957 1649801;2120847 DXS7679;DXS7735 BRICD4;CHM1-LIKE;CHM1L;TEM BRICHOS domain containing 4;CHM1-like;OTTHUMP00000023651;chondromodulin I-like;chondromodulin-1-like protein;chondromodulin-I-like protein;chondromodulin-IB;hChM1L;hTeM;myodulin;tendin;tenomodulin APPROVED protein-coding ENSG00000000005 17757 02352 300459 REVIEWED 1314366 TNN tenascin N 1 1 1 q23-q24 148146650 148227500 + 173303617 173383825 + 175036994 175117202 + 1580863;6480464;6907045 18306355;17909022;16710414;16335952;15592496;12812753;9817758;22939629;12477932 63923 B3KXB6;Q9UQP3 ABBA01027873;AK127044;AK127654;AL049689;AMYH01001514;BC136619;BC144305;CH471067;NM_022093;Z99297;Z99715 AAI36620;AAI44306;BAG54428;CAB41260;EAW90986;NP_071376;Q9UQP3 Hs.156369 1692134;1715705 AL034020;RH119299 TN-W OTTHUMP00000032807;TN-N;tenascin-N protein-coding ENSG00000120332 22942 VALIDATED 1320524 TNNC1 troponin C type 1 (slow) Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008] 3 3 p21.1 52460158 52463098 - 52485107 52488057 - 1580739;6480464;6907045;7204682;7240710 11385718;17964289 7957210;18092822;11735257;15542288;8205619;2250022;10850966;12093807;18820258;18803402;18572189;18063575;18042489;18032382;17977476;17693547;17446435;17021793;16302972;16157641;16157639;15808858;15628883;15524171;15489334;15147183;15134451;15049709;12939162;12840750;12732641;12477932;12122471;12060657;12044157;11904166;9560191;9448267;9346285;9315850;9219516;8995486;8987992;7103951;3951483;3166492;1907279;20566645;10806205;19439414;19542563;19808376;19920153;20031618;20128626;20215591;20371872;20459070;20378771;15601779;20889975;19492165;21056975;23066014;2455687;21832052;21139048;21926972;22489623;22675533;23111626;21988832;23000965;22329450;22591429;22815480 7134 C9JDI3;P63316;Q6FH91 ABBA01024508;AC006208;AF020769;AJ574625;AK313743;AMYH01013184;BC030244;CH471055;CR541865;CR541885;GU324920;M37984;NG_008963;NG_033112;NM_003280;X07897 AAA36772;AAB91994;AAH30244;ABM81952;ABM85132;ADL14491;BAG36483;CAA30736;CAG46663;CAG46683;EAW65226;EAW65227;NP_003271;P63316 Hs.118845 1774379;2120937;2157906;5491657 MARC_5631-5632:996690526:1;RH79154;SGC35451;STS-M37984 CMD1Z;CMH13;TN-C;TNC;TNNC OTTHUMP00000213108;TN-C;cardiac troponin C;slow twitch skeletal/cardiac muscle troponin C;troponin C, slow skeletal and cardiac muscles;troponin C1, slow;troponin c, slow APPROVED protein-coding ENSG00000114854 11943 08930 191040;611879;613243 REVIEWED 737204 TNNI3 troponin I type 3 (cardiac) Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008] 19 19 q13.4 60354947 60360912 - 55663135 55669100 - 1580419;1580420;1580421;1580422;1580863;6480464;6907045;7240710 16288990;15698845;15604421;15070570 10806205;12809519;7957210;11984006;12721663;11735257;15542288;11815426;10850966;12093807;19590045;19463339;19387251;19372185;19321456;18042489;18032382;17710247;17594788;17587709;17574519;17303066;17140583;17101185;16916777;16887211;16765375;16754800;16516408;16358990;16338262;16338248;16302972;16236952;16199542;16157639;15961398;15867176;15718266;15607392;15601779;15367881;15350489;15257080;15147183;15134451;15049709;14661957;14596793;19299763;19293840;19221927;19150014;19149795;19145004;19090253;19035361;19016149;19008306;19003742;18986304;18976355;18810980;18760145;18682663;18569954;18513529;18445579;18430738;18403758;18381864;18175163;18094010;18092822;18064406;18042776;14575308;12477932;12383268;12270775;12242268;12151382;12122471;12060657;12044157;11904166;11853553;11801593;11596911;11121119;10387074;10191089;9605869;9560191;9346285;9241277;9219516;8798526;8661099;8406024;8125298;2584239;2226863;2226790;1959915;1934363;14551240;12974739;12967628;12939162;12840750;12826210;12803836;12732641;12707239;12626203;12531876;12525172;21184543;21456469;20043329;18571749;18835219;19426736;19455094;19523464;19571537;19580729;19651143;19696481;19797054;19833747;19853701;19875404;19920153;20008898;20030529;20031618;20035081;20086309;20215591;20359594;20474083;19925440;20378771;20523292;20555264;20588136;20025646;20188720;20975235;20889975;20140242;20624503;20800588;20817590;20923987;21777381;19568166;21214502;22704287;22876777;21304210;22761714;20079546;20358260;21574239;21730823;20924643;21757825;22029801;22072229;23184341;23393062;21549291;20301486;22456184;22500757;21993227;22052454;22493448;22491666;22449338;22465126;22675533;23326389;23144315;23329791;22982904 7137 K7EJP0;K7EN02;P19429;Q6FGX2 ABBA01068119;AC010327;AK223451;AMYH01009985;BC096165;BC096166;BC096167;BC099631;BT019517;CR541985;CR542012;EU747720;GU324921;M64247;NG_007866;NM_000363;X54163;X90780 AAA16157;AAH96165;AAH96166;AAH96167;AAH99631;AAV38324;ACH92818;ADL14492;BAD97171;CAA38102;CAA62301;CAG46782;CAG46809;NP_000354;P19429 Hs.709179 CMD1FF;CMD2A;CMH7;MGC116817;RCM1;TNNC1;cTnI cardiac troponin I;familial hypertrophic cardiomyopathy 7;troponin 1, type 3;troponin I, cardiac muscle APPROVED protein-coding ENSG00000129991 11947 11769 115210;191044;611880;613286;613690 REVIEWED 1323707 TNNC2 troponin C type 2 (fast) Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008] 20 20 q12-q13.11 43885260 43889360 - 44451853 44455953 - 1580863;6480464;7204682 17964289 17194691;2373703;15489334;12477932;11780052;9560191;9459007;9016781;7869399;3166492;978749;1907279;19913121;20628086 7125 C9J7T9;P02585;Q6FH92 ABBA01052667;AI080746;AK291323;AK300665;AL050348;AMYH01011939;BC005323;BU854061;CH471077;CR541864;CR541884;M22307;M33772;NM_003279;X07898 AAA61197;AAA91854;AAH05323;ADZ15796;BAF84012;BAG62351;CAA30737;CAG46662;CAG46682;EAW75802;EAW75803;NP_003270;P02585 Hs.182421 1658593;1667530;1791750;1792330;1792534;5110878 PMC123151P1;PMC140912P1;PMC153210P1;RH41789;RH71437;STS-M33772 OTTHUMP00000039530;OTTHUMP00000039531;troponin C, skeletal muscle;troponin C2, fast APPROVED protein-coding ENSG00000101470 11944 08929 191039 REVIEWED 1344978 TNNI2 troponin I type 2 (skeletal, fast) This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 11 11 p15.5 1817479 1819484 + 1860233 1862910 + 1599481;1580863;6480464;7240710 12592607 17194691;18331830;18805052;18548613;17393089;16924011;16802141;15489334;15342556;15289369;12809519;12477932;12097349;11470454;10737800;10721725;10077564;9724539;9560191;9448267;9016781;8987992;8681137;8148383;6847627;2365354;7103951;15967462;7118902;19913121;20628086;15604093;22519952;23128233 7136 P48788 ABBA01012161;AC051649;AJ245761;AMYH01003315;AW984315;BC032148;BI833431;BP233165;BQ926240;CH471158;F36243;L21715;NG_011621;NM_001145829;NM_001145841;NM_003282 AAA19813;AAH32148;ABM82908;ABM86098;CAB59981;EAX02467;EAX02468;EAX02469;NP_001139301;NP_001139313;NP_003273;P48788 Hs.523403 1792718;1803134;1803318;1803882;1807612;1816218;2089316;2089318;2089320;2089322;2089324;2089326;2089328;2089330;2089332;2089334;2089336;2089338;2089340;2089342;2089344;2089346;2089348 ECD02458;ECD02555;ECD02854;ECD04778;ECD09150;PMC15822P2;REN115920;REN115921;REN115922;REN115923;REN115924;REN115925;REN115926;REN115927;REN115928;REN115929;REN115930;REN115931;REN115932;REN115933;REN115934;REN115935;REN115936 AMCD2B;DA2B;FSSV;fsTnI OTTHUMP00000014141;OTTHUMP00000014142;OTTHUMP00000014143;fast-twitch skeletal muscle troponin I;troponin I fast twitch 2;troponin I, fast skeletal muscle;troponin I, fast-twitch isoform;troponin I, fast-twitch skeletal muscle isoform APPROVED protein-coding ENSG00000130598 11946 01843 191043;601680 REVIEWED 732918 TNNI1 troponin I type 1 (skeletal, slow) Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008] 1 1 q31.3 199639518 199657497 - 201372895 201390874 - 1580863;6480464 15367881;16338262;16358990;16916777;16236952;12809519;16189514;8987992;17099250;17051347;16381901;16005017;15489336;15489334;15289369;14702039;12857748;12815045;12477932;12044157;11230166;11076863;9724539;9016781;8144655;8125298;2341402;1959627;1934363;2365354;20817590;21988832;22323298;19811558;22374183;15542288;15604093;18092822;19240029 7135 G3V3L5;G3V489;G3V4F8;Q96DT9 ABBA01027533;AC096677;AJ315823;AK123965;AK223588;AK311896;AL831820;AL831975;AL832006;AMYH01001642;BC012600;BC012601;BI825503;BX510903;CH471067;CR450301;CR541996;CR542030;J04760;L21910;NG_016649;NM_003281 AAA61228;AAC14461;AAH12600;AAH12601;ABM83744;ABM87063;BAD97308;BAG34837;BAG53988;CAC44240;CAD38534;CAD91135;CAG29297;CAG46793;CAG46827;CAH56221;CAL37688;EAW91365;EAW91366;EAW91367;EAW91368;NP_003272;P19237 Hs.320890 1341477;1650594;2142853;2148131;2161464;2187057;2218104;5015961;5491868 D15S1477;D1S1723;D1S2034E;RH41799;RH64709;SHGC-52392;SHGC-76130;TNNI1;TNNI1_3874 DKFZp451O223;SSTNI;TNN1 OTTHUMP00000033877;OTTHUMP00000033909;OTTHUMP00000033910;OTTHUMP00000245091;OTTHUMP00000245093;troponin I, slow skeletal muscle;troponin I, slow-twitch isoform;troponin i, slow isoform APPROVED protein-coding ENSG00000159173 11945 01842 191042 REVIEWED 1345235 TNNI3K TNNI3 interacting kinase This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012] 1 1 p31.1 74473673 74782696 + 74701071 75010116 + 1302422;6480464 12721663 18205602;18552163;17660584;15815621;15489334;12477932;19925440;11329013;20808825;20569525;19913121;20628086;20935630;18029348;19359327;21314842;22939624;23085512;23449627 51086 A6NHC7;H0YCE9;H0YDG1;H0YE48;Q59H18 AA758546;ABBA01074425;ABBA01074426;ABBA01074427;ABBA01074428;AC093158;AC098692;AC105271;AC119672;AF116826;AK307984;AMYH01000711;AMYH01000712;AY303691;BC113539;BC117262;BG187210;BX470253;BX502807;CH471059;DQ822519;NG_032939;NM_015978 AAD29632;AAI13540;AAI17263;AAP72030;ABG46944;ADR83282;EAX06415;NP_057062;Q59H18 Hs.480085 1643762;1646283;1647163;1668748;1679768;1691990;1695982;1698188;1711004;1735972;1774221;1789144;2109319;2126349;2171305;2174287 A005C44;AL009456;AL009475;AL009884;AL033647;D1S1962E;D1S3377;FPGT_8857;G65707;RH102630;RH12316;RH92878;SGC38103;SHGC-31192;SHGC-82732;SHGC-84880 CARK;MGC142099;MGC33828 OTTHUMP00000011169;OTTHUMP00000011170;OTTHUMP00000011185;OTTHUMP00000232461;TNNI3-interacting kinase;cardiac ankyrin repeat kinase;cardiac troponin I-interacting kinase;serine/threonine-protein kinase TNNI3K APPROVED protein-coding ENSG00000116783 19661 18208 613932 REVIEWED 7241102 TNPO1P1 transportin 1 pseudogene 1 10 86150490 86151802 + 100418919 ABBA01003755;AC074321;AMYH01002891;NG_025528 1850995 SGC34764 pseudo 45120 INFERRED 7240968 TNPO1P2 transportin 1 pseudogene 2 17 p11.2 18363646 18366646 + 252968 AC107983;AL353997;AMYH01008175;NG_001592 pseudo 45121 INFERRED 733051 TNNT1 troponin T type 1 (skeletal, slow) This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 q13.4 60336009 60352386 - 55644161 55660606 - 737736;1580863;6480464;7240710 10952871 15967462;15665378;18032382;18579801;16189514;15761153;15495263;15489334;12477932;11904166;10601315;10529204;10451243;10191089;9724539;9448267;8987992;8681137;8403232;8135831;6822572;3611073;2824479;2687327;1706783;1551677;1505979;1473264;16169070;19326042;19541721;19690080;19916752;20038417;20380359;20889975;19913121;20628086;21448949;21111984;21139048;21683708;21784424;21900206;23244308;22448368;22239123;20301465;21729325;22977240 7138 F5H1H4;K7EKB5;K7EKM3;K7ELB0;K7EQL4;M0QX01;M0QY38;M0QZU8;M0QZY5;P13805;Q3B759 ABBA01068121;ABBA01068122;ABBA01068123;ABBA01068124;ABBA01068125;ABBA01068126;AC010327;AJ011712;AJ011713;AK291352;AK308199;AMYH01009982;AMYH01009983;AMYH01009984;AMYH01009985;AY762903;AY762904;BC007074;BC010963;BC022086;BC034143;BC107798;BT019630;CH471135;DC385695;F34258;M19308;M19309;NG_011829;NM_001126132;NM_001126133;NM_003283;S51938;S66057;S69208;S69209 AAA61204;AAA61205;AAB30272;AAB30273;AAD13978;AAH07074;AAH10963;AAH22086;AAH34143;AAI07799;AAV38436;AAX07831;AAX07832;BAF84041;CAA09750;CAA09751;CAA09752;EAW72336;EAW72337;EAW72338;EAW72339;NP_001119604;NP_001119605;NP_003274;P13805 Hs.631558 1741523;5017370;5120199 GDB:181281;GDB:204197;RH71430 ANM;FLJ98147;MGC104241;NEM5;STNT;TNT;TNTS nemaline myopathy type 5;slow skeletal muscle troponin T;troponin T, slow skeletal muscle;troponin t1, skeletal, slow;troponin-T1, skeletal, slow APPROVED protein-coding ENSG00000105048 11948 01841 191041;605355 REVIEWED 732398 TNNT2 troponin T type 2 (cardiac) The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008] 1 1 q32 199594765 199613428 - 201328142 201346805 - 1559062;1580232;1580434;1580439;1580440;1580441;1580442;6480464;6907045;7240710 7898523;16651346;10946062;15950076;12881443;15226628;11684629 20661138;19293840;12923187;8205619;10850966;15542288;12186860;15923195;16754800;19412328;19359536;19330751;19275886;19253838;19150014;19149795;19061534;19035361;19016149;18785956;18780659;18719346;18651846;18645057;18513529;18506004;18460953;18403758;18322550;18174208;18065785;18063145;18037101;18032444;18032382;18029407;17891611;17848144;17672918;17612745;17512511;17289431;17101185;16882671;16789403;16776629;16716613;16338248;16199542;16115869;15769782;15759546;15673967;15604421;15568820;15563892;15524172;15524170;15387941;14986170;14736877;14722098;14702039;14636924;12974739;22334656;12840750;12832403;12819028;12760310;12732643;12707239;12477932;12473556;12206807;12093807;12087140;12084606;11931771;11857753;11262409;11106718;11034944;10978365;10610467;10529204;10525521;10451243;10405326;9714088;9560191;9482583;9219516;9140840;9060892;8989109;8798526;8576938;8521556;8344420;8088824;7981753;7895342;7534662;7498159;6746613;6205765;3581171;2584239;11904166;22713569;22579624;22264874;22623715;22685114;19324435;19459818;19615100;19736474;19808368;19833747;19853701;19875404;19880069;19920153;20031601;20031618;20031650;20038417;20083571;20093942;20101793;20201937;20299689;20359594;20414521;20474083;2530435;20512449;19356187;19359810;19454539;20472389;20975235;20378771;17207965;20677290;20884259;21056973;19887861;19913121;20624503;20628086;20800588;22694299;21422391;21276572;21502316;21632491;22277685;19666196;21565741;21574239;21639091;9689598;21832049;22681487;22822013;20805692;20035047;21779191;21448080;22396190;23184341;23315610;22734916;23393062;21792561;22525447;22558116;20301486;20301725;22017532;22144547;21807382;22675533;23628072;23114876;23228375;23247143;23355808;22326514;22545649;22685586;22982904;23471272;23328564;23455924;22808179 7139 C9JDF8;C9JM61;E7EPN8;E7EPW4;F8W748;F8W9V2;F8WAF6;J3KQN2;P45379;Q15607 AA865519;ABBA01027534;AC119427;AF004415;AF004422;AJ709280;AK055533;AK125236;AK290621;AK309493;AL832707;AMYH01001642;AY044273;AY160216;AY277394;BC002653;CH471067;EF179183;L40162;NG_007556;NM_000364;NM_001001430;NM_001001431;NM_001001432;NM_001276345;NM_001276346;NM_001276347;S64668;S71126;S71128;X74819;X79855;X79856;X79858;X79859;X79861;X83743;X83744;Y09626;Y09627;Y09628 AAA67422;AAB27731;AAB30956;AAB30957;AAC39590;AAH02653;AAK92231;AAN71651;AAP96757;ABN05286;ADQ31899;BAF83310;CAA52818;CAA56235;CAA56236;CAA56238;CAA56239;CAA56240;CAA70839;CAA70840;CAA70841;EAW91353;EAW91354;EAW91355;EAW91356;EAW91357;EAW91358;EAW91359;EAW91360;EAW91361;EAW91362;NP_000355;NP_001001430;NP_001001431;NP_001001432;NP_001263274;NP_001263275;NP_001263276;P45379 Hs.533613 1856871;5015961;5037552;5117078 D15S1477;D1S2419;D8S2279;GDB:435263 CMH2;CMPD2;LVNC6;MGC3889;RCM3;TnTC;cTnT OTTHUMP00000033864;OTTHUMP00000033865;OTTHUMP00000033866;OTTHUMP00000033867;OTTHUMP00000033870;OTTHUMP00000218095;cardiac muscle troponin T;cardiomyopathy, dilated 1D (autosomal dominant);cardiomyopathy, hypertrophic 2;troponin T, cardiac muscle;troponin T2, cardiac;troponin t2 APPROVED protein-coding ENSG00000118194 11949 01844 115195;191045;601494;612422 REVIEWED 736031 TNP2 transition protein 2 (during histone to protamine replacement) 16 16 p13.13 11269215 11270661 - 11361714 11363160 - 1580863;6480464 18978792;18727729;17852044;16989827;16291974;12775710;12477932;10659848;9809674;8961924;8428967;7983046;7711033;2250010;1395729;1385303;19710011;20378615;20522125;19607827;20800603;9837753;23568457;22190364 7142 Q05952;Q4VB56 AB281701;ABBA01006810;AC009121;AF215715;AI220577;AMYH01007152;BC096135;BC096136;BC096137;BX282422;CH471112;HC007348;L03378;NM_005425;U15422;X63758;X63759;Z46940 AAA61203;AAC50488;AAF35854;AAH96135;AAH96136;AAH96137;BAF36710;CAA45290;CAA45291;CAA87067;CBH19479;EAW85161;EAW85162;NP_005416;Q05952 Hs.513349 1658393;5492823 RH70860;UniSTS:482873 MGC116783;MGC116785;TP2 TP-2;nuclear transition protein 2;transition protein 2 protein-coding ENSG00000178279 11952 01831 190232 VALIDATED 6481088 TNR-IT1 TNR intronic transcript 1 (non-protein coding) 100874256 AL021919 miscrna 41391 1344584 TNR1 Turner syndrome 1 7677140 7144 11954 1351438 TNRC17 trinucleotide repeat containing 17 q21.3 9225980 27321 U80752 CAGL234 miscrna 11961 733923 TNP1 transition protein 1 (during histone to protamine replacement) Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008] 2 2 q35-q36 217432426 217433027 - 217724181 217724782 - 1580863;6480464 2249851;12743712;11315969;10781074;18727729;18292840;17852044;16989827;16291974;15489334;12477932;9809674;8019440;3412903;3382664;2250010;2040274;20378615;20522125;17207965;9837753;20524034;21931568;21967852 7141 P09430;Q4ZG82 AB281700;ABBA01062825;AC007557;AMYH01011492;BC029516;CH471063;HC007346;HC044587;M59924;NM_003284;X07948 AAA61202;AAH29516;AAX88913;ADQ32665;BAF36709;CAA30774;CBH19478;CBH30623;EAW70577;NP_003275;P09430 Hs.3017 1741931;2138137 D2S2720;GDB:186871 TP1 OTTHUMP00000164059;STP-1;TP-1;spermatid nuclear transition protein 1;transition protein 1 APPROVED protein-coding ENSG00000118245 11951 01830 190231 VALIDATED 6906998 TNRC18P1 TNRC18P1 4 q31.21 141556481 141563808 - 644962 ABBA01069981;AC108019;AK127954;AMYH01014572;HY041731;NR_077215 Hs.676500 pseudo 43881 VALIDATED 1345656 TNRC18P2 trinucleotide repeat containing 18 pseudogene 2 7 7 q11.21 62670152 62682864 - 63026751 63045452 - 6480464 27320 AC006015;AMYH01017404;AMYH01017405;NG_009899 1758637 SHGC-148981 TNRC18;TNRC18B hypothetical protein LOC27320;trinucleotide repeat containing 18 APPROVED pseudo 34014 INFERRED 2303660 TNRC18P3 trinucleotide repeat containing 18 pseudogene 3 7 7 p11.2 57067183 57080801 + 57063241 57076859 + 340221 AC069152;AC122133;AMYH01017320;NG_009812 TNRC18C APPROVED pseudo 34015 INFERRED 1353307 TNRC21 trinucleotide repeat containing 21 9225980 27318 O15418 U80756 AAB91448;O15418 CAGL114 protein-coding 11964 737137 TNNT3 troponin T type 3 (skeletal, fast) The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009] 11 11 p15.5 1897445 1916514 + 1940799 1959936 + 1599490;1580863;6480464;7240710 12865991 20453838;17194691;8987992;9724539;15507453;19142688;16344560;16169070;16081096;15967462;15489334;14702039;12761854;12477932;9508073;9012416;8838323;8681137;8172653;8062920;7118902;18629027;19326042;20066428;19913121;20628086;20634891;21402185;15604093;21900206 7140 A6NE78;A6NN42;C9JCA5;C9JZN9;F8WA37;H9KVA2;J3KPJ1;Q12976 ABBA01012164;ABBA01012165;AC051649;AF026276;AI161366;AJ571879;AK056968;AMYH01003316;BC022275;BC050446;BC062430;BC117327;BC143537;BC171727;BC171728;BT019997;BX640689;CH471316;CR541927;DA897990;DA899275;DQ778624;F26088;M21984;NG_013085;NM_001042780;NM_001042781;NM_001042782;NM_006757;U14641;U14642;U14643;U14644 AAA36777;AAA50359;AAA50360;AAA50361;AAA50362;AAF21629;AAH50446;AAH62430;AAI17328;AAI43538;AAI71727;AAV38800;ABG77458;ADR82881;BAG51835;CAE45814;CAG46725;EAW50569;NP_001036245;NP_001036246;NP_001036247;NP_006748;P45378 Hs.73454 1798976;1799216;1800100;1800618;1800620;1801262;1801320;1801716;1801924;1801926;1802032;1802140;1802142;1802728;1803068;1803832;1804288;1805538;1808520;1826692;1828886;1845098;2089864;2089866;2089868;2089870;2089872;2089874;2089876;2089878;2089880;2089882;2089884;2089886;2089888;2089890;2089892;2089894;2089896;2089898;2089900;2089902;2089904;2089906;2089908;2089910;2089912;2089914;2089916;2089918;2089920;2089922;2089924;2089926;2089928;2089930;2089932;2089934;2089936;2089938;2089940;2089942;2089944;2089946;2089948;2089950;2089952;2089954;2089956;2089958;2089960;2089962;2089964;2089966;2089968;2089970;2089972;2089974;2089976;2089978;2089980;2089982;2089984;2089986;2089988;2089990;2089992;2089994;2089996;2089998;2090000;2090002;2090004;2090006;2090008;2090010;2090012;2090014;2090016;2090018;2090020;2090022;2090024;2090026;2090028;2090030;2216518;2216520;2216522;2216524;2216526;2216528;2216530;2216532;2216534;2216536;2216538;5016466;7185697 D11S922;ECD00331;ECD00456;ECD00906;ECD01170;ECD01171;ECD01503;ECD01532;ECD01738;ECD01843;ECD01844;ECD01897;ECD01952;ECD01953;ECD02251;ECD02425;ECD02827;ECD03068;ECD03717;ECD05242;ECD14460;ECD15570;ECD23766;GDB:385948;REN116205;REN116206;REN116207;REN116208;REN116209;REN116210;REN116211;REN116212;REN116213;REN116214;REN116215;REN116216;REN116217;REN116218;REN116219;REN116220;REN116221;REN116222;REN116223;REN116224;REN116225;REN116226;REN116227;REN116228;REN116229;REN116230;REN116231;REN116232;REN116233;REN116234;REN116235;REN116236;REN116237;REN116238;REN116239;REN116240;REN116241;REN116242;REN116243;REN116244;REN116245;REN116246;REN116247;REN116248;REN116249;REN116250;REN116251;REN116252;REN116253;REN116254;REN116255;REN116256;REN116257;REN116258;REN116259;REN116260;REN116261;REN116262;REN116263;REN116264;REN116265;REN116266;REN116267;REN116268;REN116269;REN116270;REN116271;REN116272;REN116273;REN116274;REN116275;REN116276;REN116277;REN116278;REN116279;REN116280;REN116281;REN116282;REN116283;REN116284;REN116285;REN116286;REN116287;REN116288;stSG548566;stSG548568;stSG548569;stSG548570;stSG548571;stSG548572;stSG548573;stSG548574;stSG548576;stSG548577;stSG548578 AMCD2B;DA2B;DKFZp779M2348;FSSV;TNTF OTTHUMP00000014432;OTTHUMP00000014433;OTTHUMP00000014434;OTTHUMP00000014435;OTTHUMP00000014437;OTTHUMP00000014438;OTTHUMP00000069617;OTTHUMP00000069618;OTTHUMP00000069619;OTTHUMP00000194823;OTTHUMP00000194824;beta TnTF;beta-TnTF;fTnT;fast skeletal muscle troponin T;troponin T, fast skeletal muscle;troponin t3;troponin-T3, skeletal, fast APPROVED protein-coding ENSG00000130595 11950 02822 600692;601680 REVIEWED 1321214 TNPO2 transportin 2 19 19 19 p13.2 12699722 12724521 - 12671015 12694078 - 12810008 12834810 - 1580863;6480464 9298975;17353931;16901787;16344560;14981248;14702039;12477932;12384575;8681137;10875935;12896982;15037768;11729309;20606625;16169070;21646354;21139048;21890473;21906983;19322201;21044950 30000 K7ELC3;K7EMA3;K7ENW1;K7ESC1;K7ESG1;K7ESJ3;O14787;Q05D48;Q4LE60 AB210011;ABBA01029778;ABBA01029779;AC018761;AF007748;AF019039;AK022217;AK056183;AK299485;AK307632;AL832114;AMYH01009495;BC018314;BC063679;BC072420;CH471106;DA100622;DA808781;DC377831;DC407313;F15550;NM_001136195;NM_001136196;NM_013433 AAB71349;AAB83973;AAH18314;AAH72420;BAE06093;BAG51640;BAG61447;EAW84299;EAW84300;EAW84301;NP_001129667;NP_001129668;NP_038461;O14787 Hs.416049;Hs.714402 1648453;1648900;1734668;2109987;2132860;2159982;2159984;5014019 D19S646E;D19S671E;D5S2354;RH41771;RH47486;RH48370;SGC30101;TNPO2_9626 FLJ12155;IPO3;KPNB2B;TRN2 importin 3;karyopherin beta 2b, transportin;karyopherin beta-2b;transportin 2 (importin 3, karyopherin beta 2b);transportin-2 protein-coding ENSG00000105576 19998 603002 VALIDATED 732585 TNR tenascin R Tenascin-R (TNR) is an extracellular matix protein expressed primarily in the central nervous system. It is a member of the tenascin (TN) gene family, which includes at least 3 genes in mammals: TNC (or hexabrachion; MIM 187380), TNX (TNXB; MIM 600985), and TNR (Erickson, 1993 [PubMed 7694605]). The genes are expressed in distinct tissues at different times during embryonic development and are present in adult tissues.[supplied by OMIM, Mar 2008] 1 1 q24 173558558 173979375 - 175291935 175712752 - 6480464;6907045 8940128;19573479;18521090;18415014;17903302;17537973;16710414;16344560;14681222;12477932;11752456;11038354;10406848;9722619;9371410;9335257;9294172;9081628;8626505;7694605;9507007;19890582;20379614;20452482;20202125;20950796;20673868;21456020;18029348 7143 A1L306;H0Y668;Q92752 ABBA01027870;ABBA01027871;ABBA01027872;AK295823;AL021919;AL023285;AL136530;AMYH01001515;AV650210;BC129830;CH471067;DA804585;DB068074;NM_003285;X98085;Y13359;Z67996;Z94055;Z94057 AAI29831;BAG58640;CAA66709;CAA91947;EAW90994;EAW90995;NP_003276;Q92752 Hs.659864 1335515;1340833;1652377;1691928;1691930;1691932;1691934;1691936;1691938;1691940;1691942;1691944;1692576;1692606;1692938;1708604;1720333;1781486;2118629;2161052;2177520;5118019 AL033939;AL034056;AL034091;AL034092;AL034093;AL034094;AL034095;AL034096;AL034097;AL034098;AL034099;AL034184;B327YG9;D1S1565;D1S2411;D1S2643;D1S370;D1S537;GDB:637251;RH123916;SHGC-132782;SHGC-85092 MGC149328;TN-R OTTHUMP00000032802;janusin;restrictin;tenascin R (restrictin, janusin);tenascin r;tenascin-R APPROVED protein-coding ENSG00000116147 11953 03589 601995 VALIDATED 1318103 TNPO1 transportin 1 This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq, Jul 2008] 5 5 q13.2 72148174 72245971 + 72112418 72210215 + 6480464 8808633;10353245;17474147;9144189;19124606;19057841;18846510;17997969;17936704;16704975;15507604;15489334;15342649;15037768;14702039;12905863;12614157;12551970;12477932;12414950;12368302;11824786;11774384;11682607;11389849;11278458;11035935;10888652;10875935;10860744;10772949;10688363;10668806;10525473;10366569;10202161;9891055;9817747;9687515;9632798;9621063;9582382;9562972;9463369;12620808;9436978;9430704;21965294;9405152;9366553;9298975;9275210;9202393;8986607;8521471;8105392;7604027;1631159;12384575;17643375;19549784;19641022;20308327;20606625;11024021;22968170;21285245;22863883;22939629;23022380;21808065;15047060;16196087;17342744;22586326;18781797;21081666;21139048;21890473;21906983;21987572;21963094;21983832;22053931;22623428;23000965;23333309;23056579;23535894;10944119;17586317;18445273;19275582;20015032;21326825;21489275;22174317;22442722;22509482;22783232;23012356;22842875;23181366;23266416 3842 B4DSC0;E7EW37;Q92973 ABBA01061907;ABBA01061908;ABBA01061909;ABBA01061910;AC008953;AC008972;AC035140;AK055669;AK124768;AK299671;AK301021;AK308177;AMYH01015402;AMYH01015403;BC040340;CH471084;NM_002270;NM_153188;U70322;U72069;U72395 AAB58254;AAB68948;AAC50723;AAH40340;ABW03429;BAG61582;BAG62638;EAW95713;EAW95714;EAW95715;NP_002261;NP_694858;Q92973 Hs.482497 1335981;1678551;1771781;1850924;1850946;2156620;2162891;2173242;5024656;5094973 D5S2535;D5S2552;D5S357;RH27246;RH45742;RH79799;SHGC-31301;STS-R76240;TNPO1;WI-13973 IPO2;KPNB2;MIP;MIP1;TRN M9 region interaction protein;OTTHUMP00000126960;OTTHUMP00000222024;OTTHUMP00000226224;importin 2;importin beta 2;importin beta-2;karyopherin (importin) beta 2;karyopherin beta-2;transportin-1 APPROVED protein-coding ENSG00000083312 6401 04210 602901 REVIEWED 2291816 TNRC18 trinucleotide repeat containing 18 7 7 7 p22.1 5306739 5423637 - 5314263 5418305 - 5346421 5463177 - 6480464 17370265;15146197;12853948;12477932;11347906;11181995;9847074;9225980;21693764;21906983 84629 A3KMH2;A8MTZ4;C9J9K1;H7BXS9;H7C0N9;H7C177;H7C3U5;H9KVB4;O15417 AB058759;ABBA01039449;ABBA01039450;ABBA01039451;ABBA01039452;ABBA01039453;ABBA01039454;AC092171;AC093376;AC093620;AI567212;AI738451;AK027341;AMYH01017001;AMYH01017002;AMYH01017003;AY129022;BC029940;BC036932;BC068099;BC131808;BX396597;CH471144;CN295035;CR993399;DN990416;DR159642;NM_001080495;U80753 AAB91447;AAI31809;AAM98765;BAB47485;BAB55047;EAW87331;EAW87332;EAW87333;EAW87334;EAW87335;NP_001073964;O15417 Hs.520638 1340989;1654994;1685994;1697310;1758637;1858293;2182659;5015961;5020289;5111253;7187865 AF021106;D15S1477;D7S2478;RH102152;RH40762;RH47607;SHGC-148981;SHGC-58294;SHGC-59714;WI-8863 CAGL79;KIAA1856;TNRC18A OTTHUMP00000200617;long CAG trinucleotide repeat-containing gene 79 protein;trinucleotide repeat-containing gene 18 protein protein-coding ENSG00000182095 11962 PROVISIONAL 1318997 TNPO3 transportin 3 The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010] 7 7 q32.1 128382184 128482434 - 128594234 128695227 - 1580863;6480464 16344560;21326825;18187620;18727908;17353931;10366588;19479858;18204446;18204098;16730941;15489334;15231748;14702039;12690205;12477932;12134081;11517331;10713112;8125298;20639879;20639880;15829567;19615732;19846519;20379614;20861858;21297633;21399635;21408207;21276267;23181366;23383273;23097435;21901095;12628928;22863883;22939629;18029348;22145813;21976643;22028839;21139048;21890473;19458352;20383147;20453842;21750679;21779181;22176773;19322201;22398280;23543484;17110338;23000965;23053960;23128233;18722123;19232540;19275582;20719241;21083892;21409951;21651489;21976634;22174692;22291694;22509482;22762018;22872638;22872640;22928108;22956906 23534 B3KMX1;C9J7E5;E9PFH4;Q9Y5L0 AACC02000035;ABBA01057646;ABBA01057647;ABBA01057648;AC018639;AC025594;AF145029;AJ133769;AK001263;AK022910;AK225999;AK312580;AMYH01017926;AMYH01017927;AW051835;BC009221;BC009923;BC068530;BQ774864;CB992781;CH236950;CH471070;DA188633;DA720844;DA773316;NG_023428;NM_001191028;NM_012470;NR_034053 AAD38537;AAH09221;AAI56518;AAI72512;BAG35474;BAG50881;BAG51133;CAB42643;EAL24106;EAW83708;EAW83709;EAW83710;NP_001177957;NP_036602;Q9Y5L0 Hs.193613 1650507;1672754;1698486;1773592;2186182;2190891 D7S2931;D7S2941;MARC_10379-10380:999106921:1;RH102793;SHGC-53241;STS-AA100521 IPO12;MTR10A;TRN-SR;TRN-SR2;TRNSR OTTHUMP00000212900;OTTHUMP00000212901;OTTHUMP00000212902;OTTHUMP00000212903;imp12;importin 12;importin-12;transportin-3;transportin-SR APPROVED protein-coding ENSG00000064419 17103 18209 610032 REVIEWED 1607049 TNRC6A trinucleotide repeat containing 6A This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008] 16 16 p11.2 24648550 24745049 + 24741049 24837548 + 4144862;6480464 20484662 17671087;19324964;19056672;18946079;18345015;16906129;16880270;16815998;16418578;16284623;16284622;16177138;15908945;15494374;15489334;14702039;14598044;13130130;12831532;12477932;11950943;10819331;10737800;9225980;8889548;8781769;17938239;19470757;21145461;19383768;20181956;20402672;20198652;20936779;21131274;16196087;19167051;21984184;21984185;21139048;21063388;21726813;23090477;23224966;23224969;23224974;23224975;23314748;23386860;19716330;22898980;23150874;22891262 27327 G8JLL8;H3BRT3;H3BTQ1;H7C269;I3L218;I3L3S5;Q9NV59 AB040893;ABBA01017100;ABBA01017101;AC002565;AC008731;AJ492221;AK001773;AK025277;AK025696;AK094542;AK299905;AL713750;AL833757;AMYH01007393;AY035864;BC024324;BC068209;BE158958;BU743266;CH471145;NM_014494;U23860;U80739 AAB91438;AAH24324;AAI72409;AAK62026;BAA91899;BAA95984;BAG52884;BAG61746;CAD28525;CAD37348;CAH56236;EAW55782;EAW55783;EAW55784;EAW55785;EAW55786;EAW55787;NP_055309;Q8NDV7 Hs.655057 1701290;2119786;2170955;2191061;5014051;5014606;5015881;5021872;5022200;5037552 D8S2278;D8S2279;GDB:335751;L17913;L18426;MARC_13877-13878:1007496206:1;RH104274;SHGC-61076;SHGC-61178;sY3084 CAGH26;DKFZp666E117;FLJ22043;GW1;GW182;KIAA1460;MGC75384;TNRC6 CAG repeat protein 26;EDIE;EMSY interactor protein;GW182 autoantigen;OTTHUMP00000122485;OTTHUMP00000195164;OTTHUMP00000195165;glycine-tryptophan protein of 182 kDa;trinucleotide repeat-containing gene 6A protein APPROVED protein-coding ENSG00000090905 11969 11640 610739 REVIEWED 7245460 TNRC6C-AS1 TNRC6C antisense RNA 1 12477932;14702039 100131096 ABBA01002944;AC021593;AK092916;AK094898;AK123771;AK127699;AMYH01008662;AY129024;BC041417;NR_040071 AAM98767 Hs.635442 5016478;5020948;5022322;5024761;5037552 D11S2560;D8S2279;G35510;GDB:434012;RH36905 miscrna ENSG00000204282 44360 VALIDATED 1343878 TNXA tenascin XA (pseudogene) 6 6 p21.3 32084369 32088120 - 31976197 31980800 - 1298605;6480464 2475872 15339882;12121677;10343159;8530023;8132574;1988494;1373808 7146 Q16473 AL645922;AL929593;AMYH01016225;BM906343;BX679671;CR753845;CR936924;L26263;NR_001284;S38953 AAB22399;Q16473 Hs.708061 1648514;1678425;1797462;2106659;2121053;2137309 CYP21A2_2362;RH11436;RH36425;SHGC-12566;STK19__5340;WI-7720 D6S103E;HXBL;TNX;XA APPROVED pseudo 11975 VALIDATED 1349518 TNRC8 trinucleotide repeat containing 8 p11.4 14702039;12477932;9225980 27325 AK025872;AK056476;BC029936;U80740 Hs.592375 CAGH39 miscrna 11971 1350349 TNRC6B trinucleotide repeat containing 6B 22 22 22 q13.1 24242863 24533872 + 38770767 39061758 + 40440821 40731812 + 1580863;4144862;6480464 20484662 21460842;18029348;19117981;16880270;16289642;15489334;12477932;12168954;10591208;10470851;10409428;8889548;17891150;19470757;21145461;20690139;16344560;16713569;19383768;19549807;19570815;20696395;16196087;19167051;19716330;21139048;22219177;21063388;21628590;23065704;19838187 23112 B0QYM5;H0Y720;Q9UPQ9 AB029016;ABBA01055588;ABBA01055589;ABBA01055590;ABBA01055591;ABBA01055592;ABBA01055593;ABBA01055594;ABBA01055595;ABBA01055596;ABBA01055597;AK294519;AK296590;AK304087;AL022238;AL031589;AL033547;AL831862;AMYH01012785;AMYH01012786;AMYH01012787;AMYH01012788;BC028626;BC046218;BE501815;BG942870;BQ009349;BU584176;BX537577;BX647630;BX952326;CA312515;CH471095;DB147781;NM_001024843;NM_001162501;NM_015088;Z83847;Z93783 AAH28626;BAA83045;BAG57731;BAG59207;BAG64993;EAW60367;EAW60368;EAW60369;EAW60370;EAW60371;EAW60372;EAW60373;NP_001020014;NP_001155973;NP_055903;Q9UPQ9 Hs.372082 1337373;1656933;1676670;1683904;1684720;1712613;1738991;1747485;1750057;1752705;1771518;2126332;2140258;2158599;2185499;2190509;7185707 D22S1009E;D22S1077;D22S293E;D6S1662;EST13B2;G65455;RH120155;RH47588;RH48205;RH93125;SGC38330;SHGC-106513;SHGC-112316;SHGC-52542;SHGC-64051;STS-R92764 KIAA1093 OTTHUMP00000199175;OTTHUMP00000199176;OTTHUMP00000199177;trinucleotide repeat-containing gene 6B protein protein-coding ENSG00000100354 29190 610740 VALIDATED 1349772 TNRC6C trinucleotide repeat containing 6C 17 17 17 q25.3 72596318 72700896 + 73556589 73612616 + 76000318 76104916 + 1580863;4144862;6480464 20484662 19470757;21145461;19304925;16880270;16625196;16344560;15489334;14702039;12477932;12168954;10997877;19383768;20098421;21063388;23400010;19716330 57690 G3XAB8;K7EKN9;K7ELY5;Q9HCJ0 AB046802;ABBA01002944;ABBA01002945;AC015804;AC021593;AI337097;AK000022;AK054995;AK056421;AK092762;AK098609;AL834429;AMYH01008662;BC039479;BC045631;CH471099;DA339992;DV080590;NM_001142640;NM_018996 AAH45631;AAI56367;AAI57116;BAA90890;BAB13408;BAB71179;CAD39090;EAW89480;EAW89481;EAW89482;EAW89483;EAW89484;EAW89485;NP_001136112;NP_061869;Q9HCJ0 Hs.569831 1670090;1751783;1751787;1797212;5015619;5037552 D11S3114;D8S2279;FLJ20015;RH65140;SHGC-105772;SHGC-105798 FLJ20015;KIAA1582 OTTHUMP00000236672;OTTHUMP00000236673;trinucleotide repeat-containing gene 6C protein protein-coding ENSG00000078687 29318 10026 610741 VALIDATED 68636 TNS1 tensin 1 The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. A second transcript from this gene has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 q35-q36 218372757 218517041 - 218664512 218808796 - 1580863;6480464 18537817;17190795;19240061;19194507;17435217;17081983;16953426;14991332;14702039;12477932;11493697;11023826;10860821;10737800;8563175;8810278;20798394;19664390;19826001;20010834;9553131;20936779;18029348;21965014;21998595;21139048;21900206;21628590;20881960;21382349;23284291 7145 A1L0S7;C9J8K5;C9JFT7;C9JI43;C9JZT0;E7EMG1;E7ERH1;E9PF55;E9PGF5;H7C3Z4;Q59G71;Q6IPI5;Q86VB0;Q9HBL0 AB209238;ABBA01006022;ABBA01006023;ABBA01062835;AC009469;AF116610;AF172820;AF173897;AF176917;AK001785;AK057328;AK300345;AK309785;AK310169;AL117537;AL706926;AMYH01011494;BC014042;BC033065;BC051304;BC063142;BC071905;BC107758;BC116187;BC116188;BC126910;BC140942;BE142921;CH471063;NM_022648 AAF71035;AAH14042;AAH51304;AAH71905;AAI16188;AAI16189;AAI26911;AAI40943;AAQ13614;AAQ13644;AAQ13661;AAX88952;BAA91910;BAD92475;BAH13264;CAB55983;EAW70582;EAW70583;EAW70584;EAW70585;EAW70586;EAW70587;NP_072174;Q9HBL0 Hs.471381 1335997;1339378;1649453;1696096;1698212;1703494;1729640;1734742;2121246;7187037 D2S1528E;D2S173;D2S2249;D2S2814;D2S94;RH102642;SHGC-58428;SHGC-79126;SHGC-82607 DKFZp586K0617;MGC88584;MST091;MST122;MST127;MSTP091;MSTP122;MSTP127;MXRA6;TNS Matrix-remodelling-associated protein 6;OTTHUMP00000164058;OTTHUMP00000207627;OTTHUMP00000207628;matrix-remodelling associated 6;tensin;tensin-1 APPROVED protein-coding ENSG00000079308 11973 02512 600076 REVIEWED 6893085 TOB1-AS1 TOB1 antisense RNA 1 17 q21.33 48944040 48945732 + 12477932 400604 ABBA01041249;AC091062;AMYH01008478;BC039664;BP421960;BQ222352;BU600024;NR_038458 Hs.641441 1775626 RH77870 miscrna ENSG00000229980 44340 VALIDATED 1345578 TNXB tenascin XB This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 p21.3 32116911 32185131 - 32008932 32077151 - 1599494;1580863;6480464;6907045;7240710 11642233 8923003;15102077;16278880;7686164;19266077;19204726;19143821;19143814;19116923;18588874;18335242;18155129;18091320;18058064;17453911;17263730;17202312;17192952;17033827;16567571;16335952;15733269;15455729;15342556;15339882;14729256;14656967;12746407;12477932;12376099;12121677;11122379;10737800;10343159;10207042;10072631;9288108;9278449;22588153;22694956;8530023;2475872;1373808;18391951;18679583;19198610;19738457;19851445;19860791;20041166;19913121;20587610;20628086;20301456;20853426;21408207;22991340;22827484;21317684;21829377;23028341;23284009 7148 B0UYQ5;B0UYX3;B0V046;C9J7W4;E7EPZ9;O95680;O95681;Q6IPK3;Q9NPK7;Q9NPK8;Q9UMG7;Q9Y464 AB209012;ABBA01038102;ABBA01038103;ABBA01038104;AF019413;AF077974;AK310080;AL044866;AL049547;AL645922;AL662828;AL662849;AL662884;AL772248;AL929593;BC033740;BC071883;BC125114;BC125115;BC130037;BI010479;BP233293;BP420628;BQ446909;BX679671;CH471081;CR547132;CR753803;CR753845;CR759792;CR925796;CR936882;CR936919;CR936924;EU219621;M25813;NG_008337;NM_019105;NM_032470;U24488;U52696;U52697;U52698;U52699;U52700;U89337;X71923;X71927;X71937;Y13782;Y13783;Y17865;Y17866;Y17867;Y17868 AAA35884;AAB41287;AAB47488;AAB67981;AAC50880;AAC50882;AAH33740;AAH71883;AAI25115;AAI25116;AAI30038;ACA14133;ADZ15483;BAD92249;CAA50739;CAA50740;CAA74109;CAA74110;CAA76899;CAA76900;CAA76901;CAA76902;CAB89296;CAB89297;CAB89298;CAB89299;CAB89300;EAX03572;EAX03573;EAX03574;EAX03575;EAX03576;EAX03577;EAX03578;EAX03579;NP_061978;NP_115859;P22105 Hs.485104 1678425;1790875;1797462;2106225;2106227;2137309;2189367;7184131 CYP21A2_2362;D6S2670;D6S2920;D6S2921;MARC_2920-2921:991933729:7;RH11436;WI-7720 EDS3;HXBL;TENX;TN-X;TNX;TNXB1;TNXB2;TNXBS;XB;XBS OTTHUMP00000174881;OTTHUMP00000216549;TN-X;growth-inhibiting protein 45;hexabrachion-like protein;tenascin XB1;tenascin XB2;tenascin-X APPROVED protein-coding ENSG00000168477 11976 02993 130020;600985;606408 REVIEWED 1352098 TOC tylosis with oesophageal cancer 7240710 7534553 7149 11981 148500 1323398 TNS3 tensin 3 7 7 p12.3 47281277 47545724 - 47314752 47621742 - 6480464 17190795;18029348;19194507;18424204;17643115;16461921;15140944;14702039;12477932;11559528;9847074;18561090;19732724;20379614;21216879;22863883;22939629;21139048 64759 C9JHU5;C9JTD0;C9JUW5;C9JWN9;E7ERH3;E9PCX8;H7BZ64;Q68CZ2 AACC02000092;AACC02000093;AB062750;AB208995;ABBA01041098;ABBA01041099;ABBA01041100;ABBA01041101;ABBA01041102;ABBA01058270;ABBA01058271;ABBA01058272;ABBA01058273;AC073341;AC092000;AF378756;AF417489;AK001539;AK002151;AK023794;AK092864;AK310472;AL833845;AMYH01017228;AMYH01017229;BC071791;BC137133;BC137134;BX648770;CH236958;CH471128;CR749644;HI574168;NM_022748 AAH71791;AAI37134;AAI37135;AAL11993;AAN32667;AAQ96841;BAB14682;BAB60681;BAC03993;BAD92232;CAD38705;CAH18438;CBX47573;EAW61011;EAW61012;EAW61013;EAW61014;EAW61015;NP_073585;Q68CZ2 Hs.520814 1335825;1339627;1654521;1676452;1708704;1708780;1711018;1720897;1720945;1759337;1763399;1765555;1766477;1848647;2125227;2140771;2141026;2171998;2176159;2186800;5024039;7183680 D16S325;D7S2561;D7S2903;D7S665;G59277;GDB:1317158;GDB:1317674;GDB:1318084;GDB:1318742;RH122315;RH15632;RH48730;SHGC-147116;SHGC-149022;SHGC-149803;SHGC-151008;SHGC-33086;SHGC-81047;SHGC-81496;SHGC-84888;WI-16910 DKFZp686K12123;DKFZp686M1045;FLJ13732;FLJ35545;H_NH049I23.2;MGC88434;TEM6;TENS1 H_NH0549I23.2;OTTHUMP00000082709;tensin-3;tensin-like SH2 domain-containing 1;tensin-like SH2 domain-containing protein 1;thyroid specific PTB domain protein;tumor endothelial marker 6 protein-coding ENSG00000136205 21616 606825 VALIDATED 1352967 TOB1 transducer of ERBB2, 1 This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 17 17 q21 46294583 46296412 - 48939584 48945339 - 1580863;6480464 8632892;19491269;19453261;18377426;18084094;17785442;17164348;16997058;16951159;15676026;15489334;15235587;15051490;14643028;12782279;12477932;12151396;12135500;12050114;11904957;11694881;11429045;11327693;11260258;11163184;22318606;10602502;9210596;18056425;16169070;20595394;19569230;21832049;22710759;21336257;16890162;16344560;9716660;21577013;21130766;21533545;22158108;22252318;19322201;21726813;19276069;23066029 10140 P50616;Q2TU63 AA675891;ABBA01041249;AC091062;AK313904;AMYH01008478;AY524047;BC031406;BC070493;BC098415;BT019380;BT019381;CH471109;CR536487;CR541686;D38305;DA039934;NM_001243877;NM_001243885;NM_005749 AAH31406;AAH70493;AAH98415;AAS94256;AAV38187;AAV38188;ABM81763;ABM84918;ABM84919;BAA07423;BAG36627;CAG38726;CAG46487;EAW94577;EAW94578;NP_001230806;NP_001230814;NP_005740;P50616 Hs.703321;Hs.744946 1668694;1691038;1739651;1793094 D17S1726E;PMC196063P2;RH45773;RH71321 APRO6;MGC104792;MGC34446;PIG49;TOB;TROB;TROB1 OTTHUMP00000221803;proliferation-inducing gene 49;protein Tob1;transducer of erbB-2 1 APPROVED protein-coding ENSG00000141232 11979 09273 605523 REVIEWED 1347878 TOB2P1 transducer of ERBB2, 2 pseudogene 1 6 6 6 p22.1 29789902 29793499 - 28291095 28294686 - 28183116 28186707 - 12477932 222699;387049 Q8WYV3 ABBA01038015;AK292767;AL022393;AMYH01016189;BC015543;BC039027;BC050562;BC126996;BC126997;CH471081;HQ268503;NR_002936 ADO79995;BAF85456;EAX03138 Hs.161441 1659445;2153072;2189657;5023733;7187259;7187280 AU048745;D6S2227;D6S2305;RH36529 TOB2P;TOB4p;p373c6.3 APPROVED pseudo 13986 VALIDATED 1605916 TNS4 tensin 4 17 17 q21.2 35885606 35911380 - 38632080 38657854 - 6480464 20390342;12477932;17190795;19487278;19194507;18612693;17765673;17643115;15806167;15498874;15489334;15001839;14702039;12711115;12154022;10737800;8889548;15778465;19725034;19913121;20628086;21339732;21698197;21906983;21987572;23500447;16273093;21963094;22750970 84951 J3QLA4;Q6PJP3;Q8IZW8 ABBA01031824;ABBA01031825;ABBA01031826;AC018629;AF370421;AF417488;AK027856;AMYH01008384;AW378527;AW937802;BC013373;BC018706;BM710196;CH471152;NM_032865 AAH13373;AAH18706;AAN32666;AAQ15257;BAB55413;EAW60666;EAW60667;NP_116254;Q8IZW8 Hs.438292 1662127;1705528;2218760 CTEN__4650;RH69878;SHGC-83863 CTEN;FLJ14950;PP14434 C terminal tensin like;C-terminal tensin-like protein;OTTHUMP00000164465;tensin-4 protein-coding ENSG00000131746 24352 12223 608385 VALIDATED 1342508 TOB2 transducer of ERBB2, 2 TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004] 22 22 22 q13.2 25635881 25649416 - 40159438 40172973 - 41829492 41843027 - 1580863;6480464 22561518;17785442;10602502;15489334;15461802;12477932;12135500;11429045;11260258;11258795;10591208;19940862;19760502;21242960;19322201;21726813;20360068;22252318 10766 B0QXZ4;Q14106 AB035207;AB051450;ABBA01055636;AI362988;AL008582;AMYH01012802;BC028919;BC038957;BM453650;CR456594;CR541684;D64109;NM_016272 AAH28919;AAH38957;BAA10971;BAA87042;BAB33333;CAG30480;CAG46485;CAK54625;CAK54924;NP_057356;Q14106 Hs.743993 2180263;5014053;5021884;5113744;5127362 D1S3693;RH28573;RH71330;WI-19547;ha2102 TOB4;TOBL;TROB2 OTTHUMP00000198833;OTTHUMP00000198834;protein Tob2;protein Tob4;transducer of erbB-2 2 APPROVED protein-coding ENSG00000183864 11980 09583 607396 VALIDATED 7245850 TOLLIP-AS1 TOLLIP antisense RNA 1 (head to head) 12477932;16344560 255512 ABBA01012136;AC136297;AMYH01003304;BC034741;BC042808;BC066355;DA359936;NR_029409 Hs.588291 miscrna ENSG00000255153 27403 VALIDATED 1602627 TOMM20L translocase of outer mitochondrial membrane 20 homolog (yeast)-like 14 14 14 q23.1 38912616 38925391 + 57932385 57945172 + 58862644 58875419 + 15733919;12975309;12477932 387990 G3V4A4;Q6UXN7 ABBA01018257;ABBA01018258;AL139021;AMYH01005761;AY358266;BC137557;BC137563;BC144709;CH471061;NM_207377 AAI37558;AAI37564;AAQ88633;EAW80733;EAW80734;NP_997260;Q6UXN7 Hs.592307 1858239;1858241;2137397;2149142 RH44925;RH46962;RH66721;RH78893 UNQ9438 OTTHUMP00000179029;TOMM20-like protein 1;translocase of outer mitochondrial membrane 20 homolog type I protein-coding ENSG00000196860 33752 18275 VALIDATED 1319240 TOE1 target of EGR1, member 1 (nuclear) 1 1 1 p33 44088718 44093026 + 45577929 45582237 + 45805342 45809650 + 6480464 17081983;16710414;16344560;15489334;14702039;12562764;12477932;7829101;16169070;15146077;21145461;22939629;21139048;21906983;21642987;22365833;23151878;22174317;22505724 114034 B4DEM6;Q96GM8 ABBA01050882;AK024011;AK093320;AK293704;AK298162;AL359540;AMYH01000572;AY169960;BC009364;BI495405;CH471059;CR457320;DA887065;NG_008189;NM_025077 AAH09364;AAN75441;ADZ15398;BAB14774;BAG52689;BAG57137;BAG60435;CAG33601;EAX06990;NP_079353;Q96GM8 Hs.525091 1703256;2176074;2183739;2190799 RH18295;RH68652;SGC31961;TESK2 FLJ13949 OTTHUMP00000009092;target of EGR1 protein 1 protein-coding ENSG00000132773 15954 18212 613931 VALIDATED 4110022 TOMM22P1 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 1 Y Y q11.223 7988980 7989291 + 23292756 23293067 + 9847074 100499416 ABBA01057517;AC007876;NG_023455 pseudo 38736 INFERRED 4110021 TOMM22P2 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 2 Y Y p11.31 88885209 88885445 + 2696023 2696259 + 9847074 100499417 ABBA01069751;AC006040;NG_023456 pseudo 38737 INFERRED 4109750 TOMM22P3 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 3 13 13 13 q13.1 14595017 14595418 - 32426195 32426596 - 33528194 33528595 - 11181995 122038 ABBA01010152;AL355504;AMYH01005024;CH471075;NG_023453 EAX08524 pseudo 38739 INFERRED 6480956 TOMM22P4 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 4 4 163442854 163443193 + 100874517 ABBA01070258;AC097379;AMYH01014662;NG_032214 pseudo 38740 INFERRED 4109467 TOMM22P5 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 5 10 10 10 q26.11 114111559 114134356 + 120388425 120393700 + 120380919 120403710 + 390007 ABBA01062931;ABBA01062932;AL356865;AMYH01003107;NG_023452 1773294;1774850 SHGC-5523;U75534 pseudo 38741 INFERRED 4109367 TOMM22P6 translocase of outer mitochondrial membrane 22 homolog (yeast) pseudogene 6 3 3 q26.1 160627422 160627852 - 162204307 162204737 - 100287573 ABBA01058780;AC128711;AMYH01013617;NG_023451 pseudo 38742 INFERRED 1317553 TOM1 target of myb1 (chicken) This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] 22 22 22 q13.1 19497943 19546669 + 34025861 34073973 + 35695268 35743987 + 1580863;6480464 14613930;10329004;18029348;17671966;17081983;16903783;15657082;15461802;15047686;14702039;14563850;12975309;12477932;10985773;10591208;17113392;20083669;22863883;16196087;18781797;21987572;19953087;21139048;21890473;21906983;18367816;16199040;16412388;21291504;21832049;23023224;19578373;22053931;22505724;22933573 10043 B0QY01;B0QY02;B3KUF5;B3KUU1;E7EPD0;F8WAW7;F8WB30;F8WBB0;F8WE29;H7BYN7;O60784 ABBA01055412;ABBA01055413;AF040251;AJ006973;AK026576;AK090723;AK091958;AK097066;AK097926;AK293694;AK295918;AK296670;AK297827;AK314522;AL008635;AMYH01012740;AY358980;BC040006;BC046151;CH471095;CR456595;CS185568;DC297234;NM_001135729;NM_001135730;NM_001135732;NM_005488;NR_024194;NR_024195;R39075;Z82244 AAB97007;AAH46151;AAQ89339;BAG53417;BAG53553;BAG57130;BAG58706;BAG59267;BAG60163;CAA07362;CAG30481;CAJ42749;CAK54626;CAK54925;EAW60053;EAW60054;EAW60055;EAW60056;EAW60057;EAW60058;NP_001129201;NP_001129202;NP_001129204;NP_005479;O60784 Hs.474705 1339300;1711518;1711618;1711620;1711622;1711624;1711626;1711688;1711690;1711794;1711796;1711798;1711804;1758791;1783378;2107699;2119230;2167806;5014053 D1S3693;D22S424;G49260;G49310;G49311;G49312;G49313;G49314;G49346;G49347;G49422;G49423;G49424;G49427;SGC31973;SHGC-152032;SHGC-153073;STS-T90005;TOM1__5115 FLJ33404 OTTHUMP00000198803;OTTHUMP00000198807;target of Myb protein 1;target of myb 1 APPROVED protein-coding ENSG00000100284 11982 05265 604700 REVIEWED 1351961 TOM1L1 target of myb1 (chicken)-like 1 17 17 q23.2 50333203 50394309 + 52978052 53039328 + 1580863;6480464 15611048;10329004;19220627;18367816;17977829;16169070;15579470;15146197;15047686;14702039;12477932;12345679;11711534;8125298;20936779;20944134;18654987;19798056;20182632;22863883;22939629;21139048;21890473;21900206;21903422;21906983;16412388;20150893;21988832;23251661;17785434;22053931;23023324 10040 B4DUW5;B7Z9E2;I3L0N2;I3L1G1;I3L1Q1;I3L1T2;I3L367;I3L3M3;I3L3T4;I3L4G0;I3L4I4;I3L4N3;I3NI44;J3KQU4;K7EP47;O75674;Q8N749 AB065085;ABBA01041283;ABBA01041284;AC007485;AC090824;AJ010071;AK001893;AK223125;AK225351;AK300823;AK303912;AK303913;AK309164;AK315039;AK315907;AMYH01008487;AW044673;AW139144;BC029396;CH471109;CN284148;NM_005486 AAH29396;BAB93522;BAD96845;BAG37522;BAG62477;BAG64841;BAG64842;BAH14278;CAA08993;EAW94551;EAW94552;EAW94553;NP_005477;O75674 Hs.153504 1683199;1684784;1690754;2169245;2218842;5121809 RH26130;RH39342;RH78591;RH91952;TOM1L1__5116;WI-16135 OK/KNS-CL.3;SRCASM Src activating and signaling molecule;TOM1-like protein 1;src-activating and signaling molecule protein;target of Myb-like protein 1;target of myb 1-like 1;target of myb1-like 1;target of myb1-like 1 (chicken) protein-coding ENSG00000141198 11983 05266 604701 VALIDATED 1312257 TOLLIP toll interacting protein This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. [provided by RefSeq, Aug 2011] 11 11 p15.5 1252177 1287415 - 1295598 1330892 - 1580863;5490218;6480464;6484113;6907045 18535784 11441107;10854325;1085432;18987746;18985539;17362526;17113392;16713569;16412388;16381901;16189514;16107720;15489336;15489334;15231747;15047686;14702039;14563850;12477932;11751856;11230166;11076863;9426216;16169070;11397809;19285159;22778396;22582869;21291504;16344560;19060904;19423540;19444506;19447967;19716405;19851296;20198315;20237496;20406964;20438785;21048031;20936779;8837778;22863883;22939629;21294713;21867680;21219635;21903422;21987572;21139048;21890473;21906983;15388348;17276401;19322201;16024789;22053931;22505724;22797925;23027871 54472 B3KR28;B3KXC6;E7EN89;E9PNS3;E9PP67;E9PQ25;F2Z2Y8;Q6FIE9;Q9H0E2 AA861717;AB209541;ABBA01012136;AC136297;AJ242972;AK022871;AK090850;AK096693;AK127123;AK315592;AL136835;AMYH01003304;AY730683;BC004420;BC012057;BC018272;BX648136;CH471158;CR533477;DB039994;NM_019009 AAH04420;AAH12057;AAH18272;AAX22229;ABM82728;ABM85912;BAB14283;BAC04844;BAD92778;BAG37964;BAG52240;BAG54438;CAB58118;CAB66769;CAG38508;CAL38251;EAX02433;EAX02434;EAX02435;NP_061882;Q9H0E2 Hs.368527 1668172;1685341;1699322;1772518;1796990;2117266;2151473 IB1016;RH103248;RH46115;RH48854;RH92496;STS-T23430;TOLLIP_1105 FLJ33531;IL-1RAcPIP OTTHUMP00000164471;OTTHUMP00000232257;OTTHUMP00000232258;OTTHUMP00000232259;OTTHUMP00000232262;adapter protein;toll-interacting protein APPROVED protein-coding ENSG00000078902 16476 05887 606277 VALIDATED 735635 TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast) 1 1 q42 233339283 233358754 - 235272656 235292256 - 1580863;6480464 22610502;10548729;9756929;9748310;9211931;9119086;7589431;7584028;10980201;7584026;14557246;7498524;17081983;16710414;16169070;15733919;15644312;15489334;14699115;12477932;11913975;11027586;10982837;21771790;18029348;20877624;22939629;21890473;21906983;19322201;20686565;21963094;23000965;23251661;23275563;23165776;22280891 9804 AAB35420;Q15388 ABBA01033118;AF126962;AK289810;AL732292;AMYH01001841;BC000882;BC009886;BC066335;BC071994;BC100286;BC107851;CH471098;CQ871290;CR456718;D13641;NM_014765 AAB35420;AAF13354;AAH00882;AAH66335;AAH71994;AAI00287;AAI07852;ABM82028;ABW03358;BAA02804;BAF82499;CAG32999;CAH56826;EAW70003;EAW70004;NP_055580;Q15388 Hs.533192 1682948;1683417;1857201;2134452;2153771;5093626 A009U01;D1S2271;G32829;RH28291;RH78701;SHGC-76525 KIAA0016;MAS20;MGC117367;MOM19;TOM20 OTTHUMP00000037593;mitochondrial 20 kDa outer membrane protein;mitochondrial import receptor subunit TOM20 homolog;outer mitochondrial membrane receptor Tom20;translocase of outer mitochondrial membrane 20 homolog type II protein-coding ENSG00000173726 20947 03507 601848 VALIDATED 1315512 TOM1L2 target of myb1-like 2 (chicken) 17 17 17 p11.2 18687486 18816554 - 17687547 17816509 - 17746822 17875784 - 1580863;6480464 16479011;16412388;16344560;15951569;15489334;15231748;14702039;12975309;12477932;11997338;10036180;9110174;8889548;8619474;20936779;20167577;16751776;21832049;22939629;21987572;19953087;21139048;21890473;21906983;22053931;22505724 146691 B7Z2L7;B7Z2U2;F5H3S6;K7EKL6;K7ENB0;Q6ZVM7 ABBA01009743;AC087163;AC122129;AF038192;AF467441;AK025154;AK055959;AK057308;AK124331;AK294846;AK295111;AK299872;AK301944;AK303305;AL133641;AMYH01008162;AY358769;BC051650;BM976586;CH471196;DA235267;DA335727;NM_001033551;NM_001082968 AAH51650;AAL78338;AAQ89129;BAB71421;BAC85834;BAH11903;BAH11978;BAH13157;BAH13590;BAH13936;EAW55684;EAW55685;EAW55686;EAW55687;NP_001028723;NP_001076437;Q6ZVM7 Hs.462379 1676650;1685970;1694940;1748671;1768930;2145778;2166521;5014051;5020740;5024413;5037552 A003A44;D8S2278;D8S2279;G44363;L17809;L17877;RH18303;RH45014;RH80408;RH92777;SHGC-110335 FLJ21501;FLJ32746 OTTHUMP00000065655;OTTHUMP00000065656;OTTHUMP00000065657;TOM1-like protein 2;target of Myb-like protein 2 protein-coding ENSG00000175662 11984 18213 VALIDATED 1342792 TOMM22 translocase of outer mitochondrial membrane 22 homolog (yeast) The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008] 22 22 22 q12-q13 22884631 22887442 + 37407900 37410711 + 39077954 39080765 + 1580863;6480464 15644312;10982837;12198123;17096026;17081983;15489334;15461802;14702039;14699115;14557246;12477932;10980201;10900208;8125298;17635912;18029348;16712791;20877624;22939629;16196087;22198199;21139048;21890473;21906983;19322201;22178394;22280891 56993 Q549C5;Q9NS69 AA522979;AB040119;AB041906;ABBA01055530;AF163256;AK024731;AK223021;AK312076;AL021707;AMYH01012764;BC009363;BQ961547;CB142641;CH471095;CR456475;NM_020243 AAH09363;AAQ13585;ABM83971;ABM87288;BAB03306;BAB14979;BAB16408;BAD96741;BAG35012;CAG30361;CAK54456;CAK54755;EAW60253;EAW60257;NP_064628;Q9NS69 Hs.595072 1856322;5091745 RH17776;WI-20226 1C9-2;MST065;MSTP065;TOM22 OTTHUMP00000198879;hTom22;mitochondrial import receptor Tom22;mitochondrial import receptor subunit TOM22 homolog;translocase of outer membrane 22 kDa subunit homolog APPROVED protein-coding ENSG00000100216 18002 06130 607046 REVIEWED 1319142 TOMM34 translocase of outer mitochondrial membrane 34 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008] 20 20 20 40279403 40297749 - 43004185 43022528 - 43570771 43589114 - 1580863;6480464 9660753;9324309;17081983;16820880;15489334;12477932;11913976;11913975;11780052;11549316;10101285;8125298;18364745;20877624;22863883;22939629;21139048;21906983;21044950;22178133;19738201;19875381;21360678;22623428;23000965;23053644 10953 Q15785;Q6ZPD0 AB085681;ABBA01052655;AK000594;AK129538;AK222952;AK302128;AK307655;AL109839;AMYH01011936;BC001763;BC006573;BC007423;BC014907;BI560064;BT020008;BT020009;CH471077;CR456765;NM_006809;U58970 AAC64484;AAH01763;AAH07423;AAH14907;AAV38811;AAV38812;ABM82077;ABW03362;BAC85180;BAD96672;BAF32949;BAG63505;CAG33046;EAW75885;EAW75886;NP_006800;Q15785 Hs.517066 1646035;1686030;1715615;1725783;2109989;2120826 D20S540E;G62132;RH119893;RH18281;SHGC-31967;TOMM34_9203 HTOM34P;TOM34;URCC3 OTTHUMP00000031079;hTom34;mitochondrial import receptor subunit TOM34;outer mitochondrial membrane translocase (34kD);translocase of outer membrane 34 kDa subunit APPROVED protein-coding ENSG00000025772 15746 11641 REVIEWED 1343121 TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM, May 2008] 19 19 q13 50086334 50098783 + 45394477 45406946 + 1303948;1580863;6480464;6907045 10980201 15644312;12198123;19060911;18823527;18430993;18095154;17672918;16495475;15489334;15342556;12477932;11745481;10520737;22472643;20628086;20885792;20932310;17635912;18439552;19060910;19125160;19197348;19668339;19734902;19734903;19913121;20029386;20100581;20370913;21820212;22359560;22694956;20460622;21123754;20877624;21627779;22863908;22898894;22939629;21825236;21943158;21717124;21784354;21835183;21803501;21983493;22596268;23102119;22008263;20061627;21909109;22005931;22054870;22399527;21139048;21890473;21906983;21720235;22089642;22832961;20467438;21418511;21963094;23182705;22190034;22280891;22939635;23207651;23326517;23419831;22710912;23565137 10452 K7EJ57;K7EKG4;K7EKG6;O96008 ABBA01040890;ABBA01040891;ABBA01040892;AC011481;AF043250;AF043253;AF050154;AF316398;AF316399;AF316401;AF316402;AMYH01009844;AMYH01009845;BC001779;BC006413;BC012134;BC017224;BC047528;BP265648;CH471126;NM_001128916;NM_001128917;NM_006114 AAC82342;AAC82343;AAD02504;AAH01779;AAH06413;AAH12134;AAH17224;AAH47528;AAL46624;AAL46625;AAL46626;AAL46627;ABM83864;ABM87186;EAW57300;EAW57301;EAW57302;EAW57303;EAW57304;EAW57305;NP_001122388;NP_001122389;NP_006105;O96008 Hs.655909 5016596;5022651 D11S2921;GDB:631802 C19orf1;D19S1177E;PER-EC1;PEREC1;TOM40 mitochondrial import receptor subunit TOM40 homolog;mitochondrial outer membrane protein;p38.5;protein Haymaker;translocase of outer membrane 40 kDa subunit homolog APPROVED protein-coding ENSG00000130204 18001 16274 608061 VALIDATED 1604579 TOMM40L translocase of outer mitochondrial membrane 40 homolog (yeast)-like 1 1 1 q23.3 134262975 134267550 + 159462457 159467032 + 161195833 161200408 + 6480464;6907045 11256614;16710414;16381901;16344560;15489336;15489334;14702039;12477932;11230166;11076863;20877624 84134 B7Z4U0;Q969M1 ABBA01016596;AK022832;AK027704;AK297831;AK297848;AL590714;AMYH01001457;BC014946;BX537951;CH471121;DA160426;NM_032174 AAH14946;BAB14265;BAB55309;BAH12674;BAH12676;CAD97918;CAL37516;CAL37967;EAW52611;EAW52612;EAW52613;EAW52614;EAW52615;EAW52616;EAW52617;NP_115550;Q969M1 Hs.321653 1675289;1770437;2169670;2175302;5093974 A009Z46;D1S3429;G33032;RH70980;RH71314 FLJ12770;RP11-297K8.10;TOMM40B OTTHUMP00000032242;OTTHUMP00000032243;mitochondrial import receptor subunit TOM40B;protein TOMM40-like;translocase of outer mitochondrial membrane 40 homolog-like protein-coding ENSG00000158882 25756 13354 VALIDATED 2300132 TOMM6 translocase of outer mitochondrial membrane 6 homolog (yeast) 6 6 6 p21.1 43308511 43310964 + 41755181 41757634 + 41755181 41757634 + 6480464 18331822;16341674;16097034;15489334;14702039;14574404;12477932;7923143 100188893 Q96B49 AB435319;ABBA01050747;AF216754;AJ420506;AL365205;AMYH01016298;BC015975;BC018624;BC022274;BC067252;BC107435;BM783950;L34839;NM_001134493 AAF25683;AAH15975;AAH18624;AAH22274;BAG30996;NP_001127965;Q96B49 Hs.731633 1675718;1697274;1772673;1813444;1813640;1814456;1980098;1980100;1980102;1980104;1980106;1980108;1980110;1980112;1980114;1980116;1980118;1980120;1980122;1980124;1980126;1980128;1980130;2156658;2216270;2216272 A006W39;D16S3330;ECD07743;ECD07843;ECD08257;REN60940;REN60941;REN60942;REN60943;REN60944;REN60945;REN60946;REN60947;REN60948;REN60949;REN60950;REN60951;REN60952;REN60953;REN60954;REN60955;REN60956;RH102134;RH46842;stSG635018;stSG635019 DKFZp761H221;FLJ32622;OBTP OTTHUMP00000174797;OTTHUMP00000174798;mitochondrial import receptor subunit TOM6 homolog;over-expressed breast tumor protein;overexpressed breast tumor protein;translocase of outer membrane 6 kDa subunit homolog protein-coding 34528 VALIDATED 1345124 TOP1P1 topoisomerase (DNA) I pseudogene 1 1 1 1 q23-q24 144417382 144419812 + 169574659 169577089 + 171308035 171310465 + 2170234 7151 ABBA01027932;AL031274;AMYH01001494;M55632;NR_002719 Hs.661092;Hs.742633 1770211 RH11097 pseudo 11987 VALIDATED 1353074 TOP1P2 topoisomerase (DNA) I pseudogene 2 22 22 22 q11.23 8964933 8966454 + 23490468 23491988 + 25160468 25161988 + 6480464 2170234 7152 ABBA01055153;AMYH01012670;AP000359;M55630;NR_001283 Hs.381281 2130365;5113380 RH27839;WI-18785 pseudo 11988 PROVISIONAL 1351494 TOP1MT topoisomerase (DNA) I, mitochondrial This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] 8 8 8 q24.3 140700651 140727260 - 144462901 144488425 - 144391494 144442147 - 1323841;737633;1580863;6480464 11526219;12477932 18063578;15096574;18029348;20453000;20877624;20843780;17161897;18826252;19720733;21531700;16712791;18781797;15196694 116447 B4DYD2;E5KMK7;E5RFE3;E5RFS0;E5RGE7;E5RGR2;E5RGR4;E5RIC7;E5RJ33;E5RJ95;H0YAR3;H0YBR3;H0YC03;Q969P6 ABBA01005260;ABBA01005261;ABBA01090186;AC087793;AF349017;AF349018;AF349019;AF349020;AF349021;AF349022;AF349023;AF349024;AF349025;AF349026;AF349027;AF349028;AF349029;AF349030;AF349031;AK302372;AK303237;AK308475;AK309005;AK311647;AK315913;AK316380;AMYH01019103;AMYH01019104;AW248607;BC027453;BC044646;BC052285;BC071914;CB149603;CH471162;DC375680;DC399840;HQ204988;HQ204989;HQ204990;HQ204992;HQ204997;HQ204998;HQ204999;HQ205000;HQ205001;HQ205002;HQ205005;HQ205006;HQ205007;HQ205008;HQ205009;HQ205011;HQ205012;HQ205014;HQ205015;HQ205016;HQ205017;HQ205018;HQ205020;HQ205023;NM_001258446;NM_001258447;NM_052963 AAH27453;AAH44646;AAH52285;AAH71914;AAL05624;AAL10791;ADP90416;ADP90417;ADP90418;ADP90420;ADP90425;ADP90426;ADP90427;ADP90428;ADP90429;ADP90430;ADP90433;ADP90434;ADP90435;ADP90436;ADP90437;ADP90439;ADP90440;ADP90442;ADP90443;ADP90444;ADP90445;ADP90446;ADP90448;ADP90451;BAG63694;BAG64323;BAH14284;BAH14751;EAW82259;EAW82260;EAW82261;EAW82262;EAW82263;EAW82264;EAW82265;EAW82266;NP_001245375;NP_001245376;NP_443195;Q969P6 Hs.528574 1664938;1684554 RH65208;RH80170 DNA topoisomerase I, mitochondrial;OTTHUMP00000228063;OTTHUMP00000228064;OTTHUMP00000228103;OTTHUMP00000228104;mitochondrial DNA topoisomerase I;mitochondrial topoisomerase IB APPROVED protein-coding ENSG00000184428 29787 16214 606387 REVIEWED 1347873 TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast) 9 9 9 p13.2 37521641 37525867 - 37578410 37582636 - 37588410 37592636 - 6480464 18331822;15489334;15164053;12477932;8889548;21832049;21139048;21890473;21906983;18029348;23000965 401505 F8W8Z9;H0YFG9;Q8N4H5 AB435233;ABBA01050391;ABBA01050392;AL513165;AMYH01019358;BC029423;BC034247;BM693831;DB451927;NM_001001790;NM_001134484;NM_001134485 AAH34247;BAG30953;NP_001001790;NP_001127956;NP_001127957;Q8N4H5 Hs.130774 1770886;2167229 RH48090;WI-18403 C9orf105;RP11-263I4.1;Tom5;bA613M10.3 OTTHUMP00000021387;OTTHUMP00000021388;OTTHUMP00000239876;OTTHUMP00000239877;mitochondrial import receptor subunit TOM5 homolog;mitochondrial outer membrane protein TOM5 protein-coding ENSG00000175768 31369 16672 VALIDATED 1317904 TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012] 7 7 7 p15.3 22837876 22848044 - 22818776 22828946 - 22852251 22862421 - 1580863;6480464 12198123;18331822;15644312;15489334;12853948;12477932;10931946;10647823;20877624;20379614;22939629;21139048;21890473;21906983;21987572 54543 A6NIV2;B5MD00;Q75MR5;Q9P0U1 AA181858;AACC02000007;ABBA01056696;AC005682;AF086336;AF150733;AJ011007;AK026520;AMYH01017107;BC001732;BC071973;CH236948;CH471073;CR456960;NM_019059 AAF67473;AAH01732;AAH71973;AAS01992;CAB38060;CAG33241;EAW93760;EAW93761;EAW93762;EAW93763;NP_061932;Q9P0U1 Hs.112318 1775993;5113271 RH41930;STS-W61113 TOM7 6.2 kd protein;OTTHUMP00000120038;OTTHUMP00000201932;homolog of Tom7;mitochondrial import receptor subunit TOM7 homolog;translocase of outer membrane 7 kDa subunit homolog APPROVED protein-coding ENSG00000196683 21648 16266 607980 REVIEWED 1316704 TONSL tonsoku-like, DNA repair protein The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141828598 141844246 - 145624984 145640589 - 145654163 145669812 - 1580863;6480464 17353931;15146197;14702039;12477932;11246458;7738005;20211142;21113133;21055983;21055984;21055985;20485444;22939629;21171993;21900206;18029348;22407294;21906983 4796 Q59GI3;Q96HA7 AB209126;ABBA01005205;AC084125;AC233992;AF205589;AJ249601;AK097406;AMYH01019153;BC008782;BF475381;CH471162;CN366457;NM_013432 AAH08782;ABM83620;ABM86863;BAD92363;CAB63467;EAW82092;EAW82093;NP_038460;Q96HA7 Hs.675285 1769893;5014051;5015619;5020946;5021872;5022200;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;L17971;L18426;RH71203;sY3084 FLJ40087;IKBR;NFKBIL2 I-kappa-B-related protein;NF-kappa-B inhibitor-like protein 2;OTTHUMP00000203177;ikappaBR;inhibitor of kappa B-related protein;nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2;tonsoku-like protein APPROVED protein-coding ENSG00000160949 7801 05180 604546 REVIEWED 1345548 TOP3BP1 topoisomerase (DNA) III beta pseudogene 1 This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6395025 6395504 - 20907579 20908058 - 22577579 22578058 - 10591208;9074928 23751 ABBA01055082;AMYH01012639;D86996;NG_000002 TOP3B2 APPROVED pseudo 11994 REVIEWED 1343038 TOMM70A translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011] 3 3 q12.2 101564997 101602915 - 100082303 100120242 - 1580863;6480464 12526792;16968702;16822835;16303743;15644312;15489334;12477932;12200962;10582581;9872452;20504278;20628368;18029348;18669640;18852034;20877624;21412788;16196087;17558393;21781956;22032846;22939629;23068103;21771790;18781797;21903422;21139048;21890473;21906983;22053931;22280891;22797925 9868 B4DZ87;O94826 AB018262;ABBA01061789;AC093003;AK074951;AK075080;AK075102;AK302796;AMYH01013357;AW044465;BC003633;BC052994;BC065555;CH471052;NM_014820 AAH03633;AAH52994;ABM87423;BAA34439;BAG52062;BAG52067;BAG63999;EAW79822;EAW79823;NP_055635;O94826 Hs.227253 1683894;1691022;2114894;2137165 Bda09a02;RH47396;RH91974;RH94012 FLJ90470 OTTHUMP00000213985;mitochondrial import receptor subunit TOM70;mitochondrial precursor proteins import receptor;translocase of outer membrane 70 kDa subunit;translocase of outer mitochondrial membrane 70 homolog a (yeast) APPROVED protein-coding ENSG00000154174 11985 16194 606081 REVIEWED 2311615 TOPAZ1 testis and ovary specific PAZ domain containing 1 3 3 3 p21.31 44221424 44311638 + 44258382 44348594 + 44283378 44373590 + 14702039;22069478;21282530;23382691 375337 Q8N9V7 ABBA01024749;ABBA01024750;ABBA01024751;AC104187;AK093476;AMYH01013119;BX648094;HC044769;NM_001145030 BAC04180;CBH30714;NP_001138502;Q8N9V7 Hs.132125 2148855 D3S4128 C3orf77;FLJ36157 OTTHUMP00000209293;hypothetical protein LOC375337;testis and ovary-specific PAZ domain gene 1;testis- and ovary-specific PAZ domain-containing protein 1;topaz 1;uncharacterized protein C3orf77 APPROVED protein-coding ENSG00000173769 24746 614412 VALIDATED 733198 TOP1 topoisomerase (DNA) I This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008] 20 20 q12-q13.1 39090876 39186541 + 39657462 39753127 + 1580863;6480464 21953548;17355975;9049244;10352183;17481653;17172417;16127745;19604089;19435923;19380834;19336913;19083133;18855534;18826252;18772225;18765473;18713021;18693244;18676842;18588899;18556653;18553933;18515798;18495665;18408216;18215123;18089815;18054778;18003733;17976381;17827209;17765665;17706468;17656417;17490723;17439970;17434318;17101150;16930551;16819839;16799632;16537084;16428803;16415033;16314322;15944452;15923621;15850773;15848144;15830206;15680922;15640154;15635413;15351405;15247263;15196694;15178684;15147201;15100157;15014084;15010314;14741206;14729676;14706652;14688260;14654701;14594810;13679149;12904303;12829794;12723479;12711735;12708316;12673200;12634843;12618186;12549820;12519782;12477932;12439742;12426403;12270705;12270136;12237772;12209444;12209008;12149243;12119295;12097280;12051740;12004060;11844605;11832494;11818025;11809893;11790298;11780052;11749700;11709553;11254741;10967121;10841763;10792988;10759568;10556215;10468612;9933635;9756848;9611241;9512561;9488652;9488644;9396813;9209315;9209286;8567649;8125298;7882333;7539924;2998765;2848244;2833744;2558068;2544263;2461859;2176592;2174357;1851751;1849260;1339303;1332703;11001406;18162579;11805286;16407974;14961077;21145461;21319273;11016921;15361825;17148452;17158748;17234752;18029348;19173801;19232127;19452556;19494003;19639183;19666469;19710015;19740104;19883377;19916945;19952118;20215517;8639538;20875401;16226712;21092135;20944095;20465595;21229879;22939629;22991469;23214297;21832049;21182307;20855291;20682265;21182205;15064750;23383273;21504738;21628532;20504901;21619602;21922105;22171973;17314511;20186120;16196087;21542140;12777385;12878161;19596686;19850743;21081666;21903422;22080610;20639865;21987572;22178446;22344449;22586326;9660958;21046176;21139048;21693764;21890473;21906983;19471022;21907836;21827649;22158865;20686565;20805487;21679440;22375014;15576338;19738201;22623428;22751105;23000965;23085462;23151878;22672768;21994574;22505724;23349762;23455922;23752268 7150 Q9BVT2;Q9UJN0 ABBA01052572;ABBA01052573;ABBA01052574;AK225095;AK292943;AK310508;AL022394;AL035652;AMYH01011911;BC000943;BC004475;BC039009;BC056681;BC067349;BC136297;CH471077;J03250;M27913;M60688;M60706;NG_012262;NM_003286;U07804;U07806;X16479 AAA61206;AAA61207;AAA61208;AAB60379;AAB60380;AAH00943;AAH04475;AAH67349;AAI36298;BAF85632;CAA34500;EAW75994;EAW75995;EAW75996;EAW75997;NP_003277;P11387 Hs.472737 1652065;1671635;1703694;1791924;1791926;1791928;1858008;2115714;2125465;2130365;2130367;2149063;2174195;2183907 AL023695;AL031477;D20S758;PMC133732P2;PMC133732P3;PMC133732P4;RH36224;RH71013;RH71031;SHGC-12857;SHGC-78852;STS-AA009654;WI-18785;Z94472 TOPI DNA topoisomerase 1;OTTHUMP00000031713;type I DNA topoisomerase APPROVED protein-coding ENSG00000198900 11986 00535 126420 REVIEWED 1350637 TOP2B topoisomerase (DNA) II beta 180kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. [provided by RefSeq, Jul 2008] 3 3 p24 25614479 25680792 - 25639475 25705788 - 1580863;6480464 9049244;11062478;11136718;10666337;10473615;16611985;19222228;19181665;18212063;17526531;17361331;17209120;17182034;17081983;16969495;16932348;16794079;16712776;16565220;16502015;16091284;15680922;15635413;15302935;15044480;14996935;14723357;14596941;12821127;12629207;12477932;12393188;12197834;12105221;11927602;11790298;11710515;11395412;10879730;10862613;10095062;9795238;9743583;9461304;9426241;9155018;8710863;8626450;8396237;8383537;2556712;2163884;1333583;1309226;21110914;21793937;10684600;15561718;18247557;21145461;19902255;20201926;18029348;20800603;19913121;20628086;16159877;19394292;22939629;21182205;23022380;20882068;21280220;17567603;21542140;21252943;19471022;22111588;19303849;19596686;20360068;21139048;21693764;21890473;21906983;21963094;22178446;18394993;15161980;22505724 7155 B4DLV2;E9PCY5;H7BZ82;Q02880;Q59H80 AB208879;ABBA01025019;ABBA01025020;AC093416;AJ011721;AK296510;AK297171;AK307450;AK316492;AMYH01013035;BC021863;BC054482;BF514624;BM150930;CH471055;M27504;NM_001068;U54831;U65315;U96765;X53662;X68060;X71911;Z15111;Z15115 AAA61210;AAB01982;AAB54121;AAB95437;AAH21863;AAI56331;AAI57119;BAD92116;BAG59142;BAG59664;BAH14863;CAA09753;CAA37706;CAA48197;CAA50726;CAA78815;CAA78821;EAW64357;EAW64358;EAW64359;NP_001059;Q02880 Hs.475733 2112638;2133536;2152804;2191461;2218106 D3S3335;D3S4380;MARC_23644-23645:1029443453:1;SGC31578;TOP2B_3877 TOPIIB;top2beta DNA topoisomerase 2-beta;DNA topoisomerase II beta;DNA topoisomerase II, 180 kD;DNA topoisomerase II, beta isozyme;OTTHUMP00000208317;OTTHUMP00000208318;U937 associated antigen;antigen MLAA-44;topo II beta;topoisomerase II beta;topoisomerase IIb APPROVED protein-coding ENSG00000077097 11990 00537 126431 REVIEWED 1625806 TOPORS-AS1 TOPORS antisense RNA 1 9 p21.1 32567063 32567650 + 16344560 100129250 ABBA01065079;AL353671;AMYH01019320;BI916035;CB048380;DA702677;DA753662;HY032383;NR_033991;NR_033992;NR_102376;NR_102377;XR_158844;XR_159515;XR_171770 Q8N7I0 Hs.664395 1688154 RH98974 C9orf133 chromosome 9 open reading frame 133 APPROVED miscrna ENSG00000235453 31420 VALIDATED 1319604 TOP3A topoisomerase (DNA) III alpha This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq, Jul 2008] 17 17 p12-p11.2 18117960 18159046 - 18177235 18218321 - 1580863;6480464;6907045 10728666;8622991;19432957;18418389;18390547;17728255;16595695;16546998;15489334;12477932;12433984;12209014;11997338;11406610;10945498;10739669;10734115;10710432;10352172;9748294;9114025;11470874;10825162;12973351;15775963;19742304;20445207;20843780;20064461;20347429;21240188;12724401;16116422;22939629;22050635;20360068;21890473;22705371;22145905;22672768 7156 B4DK80;B4DSJ0;J3KRR9;J3KS96;J3QR18;J3QS25;K7EJ41;K7EL07;K7ELI7;K7EMT6;Q13472 ABBA01009733;ABBA01009734;ABBA01009735;ABBA01009736;AC127537;AF026813;AF086042;AK126869;AK290513;AK292926;AK296437;AK299764;AK311668;AMYH01008167;AMYH01008168;BC051748;BM462184;CH471196;HQ205026;HQ205027;HQ205028;HQ205029;HQ205030;HQ205031;HQ205032;HQ205033;HQ205034;HQ205035;HQ205036;HQ205037;HQ205038;HQ205039;HQ205040;HQ205041;HQ205042;HQ205043;HQ205044;HQ205045;HQ205046;HQ205047;HQ205048;HQ205049;HQ205050;HQ205051;HQ205052;HQ205053;HQ205054;HQ205055;HQ205056;HQ205057;HQ205058;HQ205059;HQ205060;HQ205061;HQ205062;HQ205063;HQ205064;HQ205065;NM_004618;U43431 AAB03694;AAB03695;AAH51748;ADP90454;ADP90455;ADP90456;ADP90457;ADP90458;ADP90459;ADP90460;ADP90461;ADP90462;ADP90463;ADP90464;ADP90465;ADP90466;ADP90467;ADP90468;ADP90469;ADP90470;ADP90471;ADP90472;ADP90473;ADP90474;ADP90475;ADP90476;ADP90477;ADP90478;ADP90479;ADP90480;ADP90481;ADP90482;ADP90483;ADP90484;ADP90485;ADP90486;ADP90487;ADP90488;ADP90489;ADP90490;ADP90491;ADP90492;ADP90493;BAF83202;BAF85615;BAG54385;BAG59092;BAG61652;EAW55646;EAW55647;EAW55648;EAW55649;NP_004609;Q13472 Hs.592115 1681219;1705204;1721967;2218620;5037552;5118576 D11S3430;D8S2279;G59869;RH47004;SHGC-80056;TOP3A__3878 TOP3 DNA topoisomerase 3-alpha;DNA topoisomerase III alpha;OTTHUMP00000065693;topo III-alpha APPROVED protein-coding ENSG00000177302 11992 03145 601243 REVIEWED 1352729 TOP2A topoisomerase (DNA) II alpha 170kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010] 17 17 q21-q22 35798321 35827695 - 38544773 38574202 - 1580863;2315132;2315120;2315124;2315125;2315126;2315131;2315122;2315127;2315128;2315129;2315130;2315121;2315133;6480464 12438255;19996222;19347305;19270648;19051821;16556665;19539329;18702822;18489530;18465341;18347174;19913893;11070118 16611985;12079377;9049244;16914642;11062478;11136718;10666337;15965487;10473615;15491148;15504738;10959840;15456904;16712776;10788521;19620488;19582575;19485418;19428368;19401546;19329795;19223331;19222228;19185918;19111388;19098900;19080257;19074885;19061514;19053267;19019771;19003983;18927283;18824850;18824478;18653531;18632987;18596031;18544048;18520795;18402387;18347177;18332872;18204862;18171681;18162055;22160858;22076611;16682295;16565220;16533774;16533424;16507781;16271071;16236267;16234514;16213649;16188892;16139951;16114891;16091284;16053917;15899781;15809708;15635413;15602006;15375522;15302935;15201855;15182198;15126503;15044480;15037624;14996935;14991576;14989736;14978217;14759373;14702039;14632727;14596941;14566826;12859955;12832072;12821127;12711669;12691917;12646941;12646164;12569090;12480934;12477932;12429910;12429800;12429798;12356743;12237772;12078518;12014628;12001123;11958416;11940573;11940566;11927602;11862483;11790298;11574892;11444988;11111056;11101529;10942766;10862613;10646863;10465010;10393912;10095062;9804834;9795238;8939955;8710863;8393377;8387155;8166723;7980433;7961967;18062778;18045852;17998154;17983804;17956945;17922046;17717428;17636313;17607373;17526531;17512033;17453369;17410335;17388661;17361331;17289897;17212588;17182034;17081983;17072627;16990717;16964243;16864174;22679013;22563370;7635160;7585537;7499337;6267071;2845399;2836804;2556712;1652758;1373318;1309226;18162579;12393188;11799067;20655466;20369487;15034300;18029348;18394993;18815879;19661031;19661040;19670699;19695223;19697956;19713842;19729798;19885609;19886180;19945923;19956605;19956635;20029472;20085707;20089371;20130985;20170164;20194637;21189395;16344560;19321449;20441774;20557373;20688355;20497003;19394292;19454010;19458360;20021828;18790802;20800603;20697251;21062978;21288332;20824055;21229879;20709174;21252292;21506336;20422488;10207078;21435434;21067592;22730815;22412018;23163762;22452920;21614903;17567603;17314511;20504901;21519837;21768308;20813715;23388101;21629784;21182205;22841979;22864769;22939629;23214297;23398928;20079182;21734419;20184667;20360068;21761866;21455636;21461646;21878638;21917518;21450455;21693764;21705665;21890473;21906983;21963094;21987572;22178446;18781797;19596686;21139048;21549307;21252943;21880040;22168383;22240029;19471022;22111588;22323612;21595939;21875466;22300273;16009940;21126478;21254166;22153616;22496876;22555090;21667123;21681601;22374418;22375014;22281973;22569122;18247557;20797634;21145461;22203181;23349762;19738201;22113938;22426810;22623428;23000965;16230076;22672768;23135572;22190034;22505724;22706628;23698369;22871798;23020778;23473851;23508957 7153 J3KTB7;J3QR57;Q9UQP9 ABBA01031828;ABBA01031829;AC080112;AF064590;AF069522;AF071738;AF071739;AF071740;AF071741;AF071742;AF071743;AF071744;AF071745;AF071746;AF071747;AF285157;AF285158;AF285159;AJ011741;AK024080;AMYH01008384;BC013429;BC062677;BC140791;CH471152;DB069825;J04088;L47276;L47277;NG_027678;NM_001067 AAA61209;AAC16736;AAC23518;AAC77388;AAG13403;AAG13404;AAG13405;AAI40792;CAA09762;EAW60661;EAW60662;EAW60663;NP_001058;P11388 Hs.156346 1653817;1655897;1733454;1741369;1777260;2118670;2186735;5109557 D17S1230;D17S1435E;GDB:180937;L17787;RH12872;RH17658;SHGC-12497;SHGC-31685 TOP2;TP2A DNA gyrase;DNA topoisomerase (ATP-hydrolyzing);DNA topoisomerase 2-alpha;DNA topoisomerase II, 170 kD;DNA topoisomerase II, alpha isozyme;OTTHUMP00000207108 APPROVED protein-coding ENSG00000131747 11989 00536 126430 REVIEWED 1321299 TOPBP1 topoisomerase (DNA) II binding protein 1 This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008] 3 3 q22.1 134802177 134863380 - 133319449 133380737 - 1580863;6480464 9461304;12773567;19289498;19097996;19084217;18923429;18519640;18006695;17913746;19505873;22213094;17448016;17293600;17287259;16984230;16964243;16930991;16880517;16831524;16530042;16314514;15961388;15635413;15195143;15188402;15138768;15075294;14576432;12941802;12810625;12697828;12477932;17887956;17765870;12421765;12408820;11934899;11756551;11714696;11395493;10498869;9039502;14576433;21482717;20413589;20571081;21502314;20566845;20858457;10931686;17006541;17575048;17643375;19584272;19690177;20029092;20056645;20159562;20545769;22939629;22973044;20724438;21108795;21149450;21127055;21291884;22925454;20360068;21930790;22708334;19471022;21139048;21890473;16391231;23819404;17686975;20065034;21382349;21700459;23383325;22544570;17616665;19023333;19766185;19164952;19177012 11073 A0AV47;A7E2X7;H0Y8I7;I3L1F2;Q05BV8;Q92547 AB019397;ABBA01059164;ABBA01059165;ABBA01059166;AC016255;AC083905;AK026229;AK302584;AMYH01013511;BC017552;BC032633;BC126209;BC151237;CH471052;D87448;NM_007027;Y18557 AAH32633;AAI26210;AAI51238;BAA13389;BAA34202;BAH13754;EAW79173;EAW79174;EAW79175;NP_008958;Q92547 Hs.593379 1661575;2107701;2157634;2157636;5017376 A006B05;G20668;SHGC-31992;SHGC-57698;TOPBP1__5117 TOP2BP1 DNA topoisomerase 2-binding protein 1;DNA topoisomerase II-beta-binding protein 1;DNA topoisomerase II-binding protein 1;OTTHUMP00000216435 APPROVED protein-coding ENSG00000163781 17008 09678 607760 REVIEWED 1319825 TOP3B topoisomerase (DNA) III beta This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Alternative splicing of the C-terminus of this gene results in three transcript variants which have distinct tissue specificity; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] 22 22 q11.22 20641403 20667147 - 22311403 22337147 - 1580863;6480464;6907045 15231747;9786843;16189514;15489334;15461802;15358519;14702039;12477932;11549288;10710432;9927731;9786842;9110174;9074928;8619474;20950730;21139048;21890473;21906983 8940 C9J9X4;C9JEI7;C9JEQ1;C9JF56;C9JHR0;C9JKE2;C9JT00;C9JTQ7;E7EWY2;F2Z2A5;H0Y6W0;H7C4B0;O95985 ABBA01055075;AF017146;AF053082;AF070585;AF125216;AK096695;AK290997;AK304709;AL833505;AMYH01012639;BC002432;CH471095;CR456596;D87012;NM_003935 AAD01614;AAD15791;AAD29670;AAH02432;BAA20009;BAF83686;BAG53351;BAG65474;CAG30482;CAK54627;CAK54926;EAW59487;EAW59488;EAW59489;EAW59490;EAW59491;NP_003926;O95985 Hs.436401 FLJ39376 DNA topoisomerase 3-beta-1;DNA topoisomerase III beta-1;OTTHUMP00000198579;OTTHUMP00000198581;OTTHUMP00000198584;topoisomerase III beta APPROVED protein-coding ENSG00000100038 11993 04662 603582 REVIEWED 1318195 TOR1B torsin family 1, member B (torsin B) 9 9 9 q34 103216467 103224595 + 131605253 131613381 + 132565432 132573560 + 1580863;6480464 17130424;9288096;10644435;16938275;15489334;15164053;15147511;12477932;20669276;20000738 27348 H0Y7C8;O14657 ABBA01043950;ABBA01043951;AF007872;AF317129;AL158207;AMYH01021764;BC006480;BC015578;CH471090;NM_014506 AAC51733;AAG50271;AAH06480;AAH15578;ABM84130;ABM84131;ABM84622;ABM87531;ABM87532;ABM87866;EAW87906;NP_055321;O14657 Hs.252682 1651111;1657281;1858370 D9S983E;SGC31170;SGC31770 DQ1;MGC4386 OTTHUMP00000022350;torsin family 1 member B;torsin-1B protein-coding ENSG00000136816 11995 16270 608050 PROVISIONAL 1345813 TOR1A torsin family 1, member A (torsin A) The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] 9 9 q34 131615042 131626262 - 132575221 132586441 - 6480464;7240710 15111678;11921134;9288096;10814722;19528516;19380705;19344776;19284587;19260107;19214438;19202559;19066193;19038309;18940237;18827015;18823049;18571468;18552369;18550799;18519876;18477841;18477710;18437909;18322712;18299128;18258738;18224570;18212280;17601741;17550429;17539945;17503336;17428918;17353931;17290457;17200151;17130424;17066475;17037984;17027035;16934985;16911351;16631205;16537570;16366514;16303743;16275837;16198613;15939081;15781971;15767459;15679701;15555920;15505207;15489334;15465399;15455404;15359520;15326234;15293281;15177405;15164053;15147511;14872019;14743361;14711988;14702039;14690443;14615676;14581671;12975293;12965225;12838525;12780349;12760408;12609485;12481989;12477932;12402271;12391355;12098639;12007841;11973627;11940688;15099679;15028751;11757956;11584049;11523564;11438481;11405807;11337467;10871631;10644435;10640617;10541594;10435508;9750906;9585364;8324822;20925076;20669276;19339278;19441135;19535332;19651773;19665049;20113340;20298201;20584926;20861018;20590813;20865765;20976771;20825472;20301665;21102408;20000738;21750546;21161590;21322026;21775450;21785409;22487959;21515903;21636841;21241782;21139048;21906983;19322201;22054283;22172551;22226333;22917612;23058565;22987473;22190034;22622408;22933784 1861 B3KPA1;O14656 ABBA01043951;AF007871;AK056062;AK075343;AK130769;AK294677;AK314505;AL158207;AMYH01021764;AMYH01021765;AU098588;BC000674;BC014484;BT006931;BU790507;CH471090;NG_008049;NM_000113 AAC51732;AAH00674;AAH14484;AAP35577;ABM83583;ABM86823;BAG37105;BAG51613;BAG57840;EAW87907;EAW87908;NP_000104;O14656 Hs.534312 1660918;1701596;1722263;5015961;5037552 D15S1477;D8S2279;G60041;RH104434;SHGC-36186 DQ2;DYT1 OTTHUMP00000022349;dystonia 1 protein;dystonia 1, torsion (autosomal dominant; torsin A);torsin family 1 member A;torsin-1A APPROVED protein-coding ENSG00000136827 3098 06897 128100;605204 REVIEWED 1606545 TOR4A torsin family 4, member A 9 9 9 q34.3 110688979 110692947 + 139292101 139296914 + 140172280 140177093 + 6480464 14702039;21987572;21890473;21906983;22952844 54863 Q9NXH8 ABBA01022752;ABBA01022753;AK000252;AK000392;AK023361;AMYH01021897;BX255925;NM_017723 AAI69268;AAI69269;AAI69270;AAI69271;BAA91032;NP_060193;Q9NXH8 Hs.495541 5022578 D1S1423 C9orf167;FLJ20245;RP13-122B23.4 OTTHUMP00000162586;torsin family 4 member A;torsin family protein C9orf167;torsin-4A APPROVED protein-coding ENSG00000198113 25981 07886 VALIDATED 1607052 TOR1AIP1 torsin A interacting protein 1 This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 1 1 1 q24.2 152959025 152996742 + 178118043 178155834 + 179851177 179889212 + 6480464 12477932;17081983;16710414;15767459;15489334;14702039;16248985;12061773;9305626;8324822;19454010;19651773;20861018;22939629;20360068;21139048;21890473;21906983;15146197;19382019;22365922;22321011;19322201;21044950;23080069 26092 E9PKD1;H0Y4R4;H0YD16;H0YDJ8;H0YDU3;J3KN66;Q9Y3X5 ABBA01027804;ABBA01027805;AK001780;AK021613;AK023204;AK291495;AK310012;AL050126;AL353708;AL598529;AMYH01001534;AW298193;BC023247;BQ435161;BX369105;CH471067;CN360425;NM_001267578;NM_015602 AAH23247;ADZ15756;BAA91906;BAB13855;BAB14461;BAF84184;CAB43282;EAW91067;EAW91068;NP_001254507;NP_056417;Q5JTV8 Hs.496459 1684337;1770131;2168327;5037552 D8S2279;RH98531;SHGC-57100;SHGC-75997 DKFZp586G011;FLJ13142;LAP1;LAP1B;MGC3413;RP11-533E19.1 OTTHUMP00000033190;OTTHUMP00000039113;OTTHUMP00000235142;OTTHUMP00000235143;lamin-associated protein 1B;lamina associated polypeptide 1B;lamina-associated polypeptide 1B;torsin-1A-interacting protein 1 APPROVED protein-coding 29456 13958 614512 REVIEWED 1313199 TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010] 9 9 p21 32530542 32542601 - 32540542 32552626 - 1580863;6480464;7240710 18408014;20188669;11278651;10352183;10415337;14516784;15735665;19373681;18509552;18077445;17976381;17924349;17803295;17081983;16679534;16455055;16189705;16122737;15699047;15489334;15364129;15302935;15247280;15231748;15164053;15107820;12878157;12477932;12083797;11842245;19053840;21159800;16344560;17290218;19473992;20379614;19821153;19183411;19690564;8889548;20351170;21624951;21252943;18775313;21987572;21963094;23000965;19471022;21139048;21693764;21890473;21906983;20301590;22610502;20805487;22505724;22972498 10210 Q9NS56 AB045732;AB045733;ABBA01065079;ABBA01065080;AF098300;AF241192;AI934577;AL353671;AMYH01019320;AU280552;AV712580;BC060884;BJ993131;BQ007035;BU674865;CH471071;DA238762;NG_017050;NM_001195622;NM_005802;U82939 AAC98530;AAD23379;AAH60884;AAK12843;BAB03714;BAB03715;EAW58546;NP_001182551;NP_005793;Q9NS56 Hs.589962 1682363;1683537;1688154;1771454;2166815;2173864 G30177;RH68036;RH81057;RH93565;RH98974;STS-H04756 LUN;P53BP3;RP31;TP53BPL E3 ubiquitin-protein ligase Topors;OTTHUMP00000021182;OTTHUMP00000021183;SUMO1-protein E3 ligase Topors;topoisomerase I binding protein;topoisomerase I-binding RING finger protein;tumor suppressor p53-binding protein 3 APPROVED protein-coding ENSG00000197579 21653 11642 609507;609923 REVIEWED 1604221 TOR1AIP2 torsin A interacting protein 2 1 1 1 q25.2 152920678 152954553 - 178080576 178113557 - 179809102 179846941 - 6480464 15767459;16710414;15489334;14702039;12477932;19651773;20861018;21145461;11181995;15342556;16964240;19339278;19615732;21139048;21890473;21906983;21963094;22190034;23569223;19295130;22268729 163590 Q8NFQ8;Q9H496 ABBA01027805;AF464140;AJ299406;AK002036;AK057623;AK289793;AL359853;AMYH01001534;BC032790;BC094724;BC096704;BC098170;BC098309;BC098348;BC101532;BC112225;BP222544;CH471067;NM_001199260;NM_022347;NM_145034 AAH32790;AAH96704;AAH98170;AAH98309;AAH98348;AAI01533;AAI12226;AAM50514;ADR83182;BAF82482;CAC13974;EAW91058;EAW91059;EAW91060;EAW91061;EAW91062;EAW91063;EAW91065;NP_001186189;NP_071742;NP_659471;Q8NFQ8;Q9H496 Hs.571797;Hs.723247 1684886;1685658;1690037;1692550;1698218;1704318;1858187;2220554;5014039;5014063;5015961;5016478;5016851;5017266;5019070;5020740;5020881;5022200;5022578;5022651;5024272;5037552;5118444 AL034051;D11S2921;D11S3316;D15S1390;D15S1477;D1S1423;D22S1584;D2S1254;D8S2279;G44334;GDB:434012;L17709;L17809;L18426;L18506;RH102645;RH80031;RH80416;RH98901;SHGC-52567;SHGC-75990;SHGC-83301;UniSTS:484730 FLJ77012;IFRG15;LULL1;MGC120074;MGC120075;MGC120076;MGC120077;MGC126581;MGC138430;NET9;RP11-12M5.5 OTTHUMP00000033196;interferon alpha responsive protein;interferon alpha responsive protein; torsin-1A-interacting protein 2;interferon responsive gene 15;lumenal domain like LAP1;lumenal domain-like LAP1;torsin-1A-interacting protein 2 protein-coding ENSG00000169905 24055 10048 614513 VALIDATED 6484053 TOX4P1 TOX high mobility group box family member 4 pseudogene 1 4 q25 113377080 113378942 + 285412 ABBA01063815;AC004049;AMYH01014468;NG_022072 1682183 RH25501 pseudo 44009 INFERRED 1323035 TOX3 TOX high mobility group box family member 3 The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009] 16 16 q12.1 51029418 51138307 - 52471918 52581714 - 1580863;6480464 19232126;19094228;18437204;17997823;17529974;18355772;17529967;14702039;12697058;9225980;20605201;20703937;19330030;19617217;19789366;19843670;19856316;20054709;20145138;20237344;20332101;20379614;20406955;20417875;20502973;20664043;20872241;20213080;20453838;20585626;21263130;21172805;22496870;21779176;22885925;23021931;23270421;23447579;23001122;20467438;23001124 27324 H3BTZ9;J3QQQ6;O15405 ABBA01066474;ABBA01066475;ABBA01066476;AC007490;AC093514;AK025084;AK027006;AK095095;AK299202;AMYH01007671;AMYH01007672;AMYH01007673;BE501808;CH471092;NG_012623;NM_001080430;NM_001146188;U80736 AAB91435;AAI67799;BAG61242;EAW82787;NP_001073899;NP_001139660;O15405 Hs.460789 1725027;1738535;1764695;1780090;1780424;2143074 D16S2712;D16S470E;D16S783;RH118810;SHGC-148286;SHGC-154410 CAGF9;TNRC9 CAG trinucleotide repeat-containing gene F9 protein;TOX high mobility group box family member 3;trinucleotide repeat containing 9;trinucleotide repeat-containing gene 9 protein APPROVED protein-coding ENSG00000103460 11972 611416 REVIEWED 1345727 TOR2A torsin family 2, member A This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Oct 2011] 9 9 9 q34.11 101144673 101148474 - 129533624 129537425 - 130493803 130497628 - 6480464 18804130;16697365;16344560;16303743;15489334;15164053;14702039;12975309;12910263;12477932;10644435;22533552;18497465;19761814;20684826;19540434;19660505;20176058;20346378;21185876;21476293;9288096;15146197;16341674;8889548;22827297 27433 Q8N2E6;Q8NAN5 ABBA01043842;AK027677;AK055034;AK075520;AK092388;AL162426;AMYH01021733;AY358180;BC022985;BC062340;BC080527;BC100907;BC100908;BC100909;BC100910;BF115698;BM695589;BM772287;CH471090;CN263138;CS051357;DA430836;DB168410;NG_030463;NM_001085347;NM_001134430;NM_001134431;NM_001252018;NM_001252021;NM_001252023;NM_130459 AAH62340;AAH80527;AAI00908;AAI00909;AAI00910;AAI00911;AAI56123;AAI56919;AAI60144;AAQ88547;BAB55288;BAC11667;CAI72173;EAW87690;EAW87691;EAW87692;EAW87693;EAW87694;NP_001078816;NP_001127902;NP_001127903;NP_001238947;NP_001238950;NP_001238952;NP_569726;Q5JU69;Q8N2E6 Hs.444106 2109831;2175178 SH2D3C_9032;WI-15876 FLJ14771;MGC99558;TORP1 OTTHUMP00000022189;OTTHUMP00000022190;OTTHUMP00000022191;prosalusin;torsin-2A;torsin-related protein 1 APPROVED protein-coding ENSG00000160404 11996 16271 608052 REVIEWED 1320812 TOR3A torsin family 3, member A 1 1 1 q25.2 152159972 152173981 + 177317735 177331754 + 179051112 179065131 + 1580863;6480464 16710414;16344560;15489334;14702039;12477932;11863361;10644435;20237496;20379614;17207965;19651773;21906983 64222 F2Z3J4;Q5W0C6;Q5W0C9;Q9H497 ABBA01027824;AJ299403;AJ299441;AJ318044;AK025998;AK130132;AK299966;AK316530;AL139132;AMYH01001528;AMYH01001529;BC001085;BC007571;BC011746;BC018292;BC088368;CH471067;CR457354;DA942161;NM_022371 AAH01085;AAH07571;AAH11746;AAH18292;AAH88368;ADQ32170;BAB15312;BAG61792;BAH14901;CAC13973;CAC14461;CAC88129;CAC88130;CAG33635;EAW91037;EAW91038;EAW91039;NP_071766;Q9H497 Hs.584957 ADIR;ADIR2;FLJ22345;MGC111104 ATP-dependant interferon response protein 1;ATP-dependant interferon responsive;ATP-dependent interferon-responsive protein;OTTHUMP00000033051;OTTHUMP00000033052;torsin-3A protein-coding 11997 09615 607555 VALIDATED 1625644 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 11 11 q24 128310475 128318032 - 128804627 128813294 - 6480464;6484113;6907045 11030628;19228369;18277909;18277906;17851056;15657359;15004724;14707453;12477932;12019168;11181995;15893728;22334068;22457820;16344560;17207965;20800603;23319000 63970 Q9HCN2 AB045830;AB045831;AB045832;ABBA01023015;AI872153;AI924030;AK314286;AL703609;AMYH01004122;AP000920;AY302135;BC069399;BC069426;CH881036;DB111427;DB129822;EF693749;NG_030401;NM_001195194;NM_001195195;NM_001251964;NM_022112 AAH69399;AAH69426;AAP57627;ABS42982;ADQ32899;BAB16421;BAB16422;BAB16423;BAG36945;EAW50498;EAW50499;EAW50500;NP_001182123;NP_001182124;NP_001238893;NP_071395;Q9HCN2 Hs.160953 2220448 UniSTS:482443 P53AIP1 OTTHUMP00000230992;OTTHUMP00000230994;OTTHUMP00000235872;p53-regulated apoptosis-inducing protein 1 APPROVED protein-coding ENSG00000120471 29984 10397 605426 REVIEWED 1605410 TOX thymocyte selection-associated high mobility group box The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009] 8 8 8 q12.1 55710971 56023242 - 59880531 60194321 - 59717977 60031767 - 6480464 19023099;18195075;17975119;17918249;17529974;15489334;15078895;14702039;12697058;12477932;12168954;11850626;9872452;21126536;19734545;20379614;23415668;22589738;22496870;23396134 9760 B4DYA1;O94900 AB018351;ABBA01041791;ABBA01041792;ABBA01041793;ABBA01041794;AC090152;AC091195;AC105150;AK000971;AK302331;AMYH01018745;AMYH01018746;AMYH01018747;BC016665;BX647462;CA439630;CH471068;NG_011993;NM_014729 AAH16665;ABM82591;ABM85778;BAA34528;BAG50841;BAG63663;EAW86818;EAW86819;NP_055544;O94900 Hs.491805;Hs.634856 1646908;1672263;1688217;1689524;1697580;1715675;1726483;1739109;1739111;1857422;2109991;2147629;2153281;2153875;2173696;2175675;2181692 D8S1536;D8S1537;D8S1658;D8S2115;G10593;G62621;RH102300;RH119283;RH11975;RH45962;RH47449;RH92770;RH99181;SHGC-34748;TOX__1212;WI-14705;WI-20692 KIAA0808;TOX1 OTTHUMP00000226471;thymocyte selection-associated high mobility group box protein TOX;thymus high mobility group box protein TOX APPROVED protein-coding ENSG00000198846 18988 12113 606863 REVIEWED 1351465 TP53CP tumor protein p53-competing protein 9405685 7160 12001 1350992 TOX2 TOX high mobility group box family member 2 20 20 20 q13.12 39250919 39406866 + 41976906 42131670 + 42543492 42698256 + 6480464 19240061;16344560;15489334;14764631;14702039;12477932;11780052;20379614;20585324;21832049;21906983;22496870 84969 B4DQV8;Q5JYD4;Q9BQN5 ABBA01052631;ABBA01052632;ABBA01052633;AK055135;AK289906;AK298976;AL034419;AL035089;AL121587;AL353797;AMYH01011928;AMYH01011929;BC007636;BM545579;CB989964;CH471077;DA174963;DA210275;JN655166;JN655167;NM_001098796;NM_001098797;NM_001098798;NM_032883 ABZ92412;AFA25746;AFA25747;BAB70860;BAF82595;BAG61070;EAW75944;EAW75945;EAW75946;EAW75947;NP_001092266;NP_001092267;NP_001092268;NP_116272;Q96NM4 Hs.26608 1337411;1339848;1649265;1650835;1680898;1704730;1776562;2173327;2184576;5127949 AFMa343xb1;AL031469;D20S169;D20S688;D20S861;RH16478;RH78097;SHGC-152424;SHGC-79645;STS-T63166 C20orf100;GCX-1;MGC15880;dJ1108D11.2;dJ495O3.1 OTTHUMP00000031037;OTTHUMP00000031038;TOX high mobility group box family member 2;chromosome 20 open reading frame 100;granulosa cell HMG box 1;granulosa cell HMG box protein 1;granulosa cell HMG-box protein 1 protein-coding ENSG00000124191 16095 12734 611163 VALIDATED 1350277 TOX4 TOX high mobility group box family member 4 14 14 14 q11.2 1810716 1830660 + 21015175 21037159 + 21945335 21967319 + 6480464 18029348;19293638;16713569;16344560;15489334;15231748;15231747;12477932;9872452;8889548;20516061;21184731;20936779;20811636;22939629;20360068;19322201;22496870;21988832;23127401 9878 B4DPY8;C9J919;C9JNL1;F8WBE8;F8WC04;F8WCL8;O94842 AB018280;ABBA01061253;ABBA01061254;ABBA01061255;AE000521;AE000658;AK295913;AK298555;AK299807;AL161747;AMYH01005595;AY305872;BC013689;BC020292;BC020727;BC035050;BQ676957;BU677026;CH471078;DA334895;NG_001332;NM_014828 AAH13689;AAQ95214;ABZ92394;ACE86628;ACE87309;BAA34457;BAG58701;BAG60750;BAG61682;EAW66380;EAW66381;NP_055643;O94842 Hs.555910 1682183;2126076;2128688;2129881;2146056;2168864;5015961 D15S1477;G35630;G36206;RH25501;RH44762;SHGC-64027;STS-W86221 C14orf92;KIAA0737;LCP1;MIG7 OTTHUMP00000196850;TOX high mobility group box family member 4;chromosome 14 open reading frame 92;epidermal Langerhans cell protein LCP1;migration-inducing protein 7 protein-coding ENSG00000092203 20161 12661 614032 VALIDATED 1605319 TP53I13 tumor protein p53 inducible protein 13 17 17 17 q11.2 24756546 24761040 + 24919865 24924301 + 27895739 27900175 + 6480464 16303743;14767535;14702039;12477932 90313 H0Y3E9;J3KRJ1;J3KSX2;K7EJC6;K7EKX3;K7ELD4;K7ERH9;Q8NBR0 AB110209;AB110214;ABBA01015015;ABBA01015016;AC104564;AK075341;AK093030;AL137404;AMYH01008290;BC001593;BC004507;CH471159;CS051131;NM_138349 AAH01593;BAC11555;BAD08203;BAD08208;CAB70727;CAI72061;EAW51192;EAW51193;EAW51194;EAW51195;NP_612358;Q8NBR0 Hs.514050 DSCP1 damage-stimulated cytoplasmic protein 1;tumor protein p53-inducible protein 13 protein-coding ENSG00000167543 25102 14267 PROVISIONAL 1318140 TP53I11 tumor protein p53 inducible protein 11 11 11 11 p11.2 45100594 45119410 - 44910475 44929184 - 44953899 44972857 - 1580863;6480464 9305847;17482569;16344560;16170329;15225615;14702039;12883691;12477932;9110174;8619474;19096915;21139048;21906983 9537 E9PIK4;E9PIN5;E9PKN9;E9PKZ4;E9PMW4;E9PMY0;E9PN66;E9PNB3;E9PPM1;E9PQ46;E9PS55;O14683 ABBA01060766;ABBA01060767;AC068858;AC092733;AF010315;AK026607;AK054815;AK056379;AK096176;AK292837;AL537510;AMYH01003526;BC000443;BC003010;BC045666;BC065557;BC071606;CH471064;DA115495;DA190266;DA697978;DA729260;DA770050;NM_001258320;NM_001258321;NM_001258322;NM_001258323;NM_001258324;NM_006034;U79302 AAB50226;AAC39533;AAH45666;BAC04717;BAF85526;EAW68052;EAW68053;EAW68054;EAW68055;EAW68056;EAW68057;NP_001245249;NP_001245250;NP_001245251;NP_001245252;NP_001245253;NP_006025;O14683 Hs.554791 1665253;1665255;1675921;1721867;1739213;1855937;5094384;7184773 A001Z17;D11S3959;D11S554;G19814;G54647;G59964;RH66436;RH80852 PIG11 OTTHUMP00000230799;OTTHUMP00000232963;OTTHUMP00000232966;p53-induced gene 11 protein;p53-induced protein;tumor protein p53-inducible protein 11 protein-coding ENSG00000175274 16842 15545 VALIDATED 1345974 TP53L tumor protein p53-like 9618472 8461 12002 1313500 TP53BP2 tumor protein p53 binding protein, 2 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 q41 222034218 222100297 - 223967595 224033674 - 1580863;6480464 10498867;8668206;11684014;12694406;14729977;9748285;15782125;19539330;19536092;19246451;18793611;18719108;17965023;17594908;17081983;16713569;16620772;16169070;16139958;16098144;16091363;15986435;15757645;15731768;15592436;15489334;15324660;15231748;15144186;14766226;12477932;11278422;11027272;10646860;10631318;10508479;9345910;9169421;8875926;8549741;8016121;11278849;15706352;14985081;17474147;19377511;19507243;20034025;20379614;8626687;20562859;20800603;21189257;21183427;21562218;22169642;22321011;15161933;21139048;21890473;21900206;21906983;22552744;22318606;23248303;23080069;23088536;22505724 7159 B7Z2E9;F8WBY9;H0Y847;H7C5L8;Q13625 AA961496;ABBA01008153;ABBA01008154;ABBA01008155;AC096542;AI042183;AJ318888;AK294432;AK294654;AK294964;AK295378;AK316016;AK316103;AL357233;AMYH01001761;BC040247;BC046150;BC058918;BX425756;CH471100;NG_029950;NM_001031685;NM_005426;U09582;U58334 AAA21597;AAC50557;AAH40247;AAH46150;AAH58918;BAG57677;BAG58037;BAG58337;BAH11835;BAH14387;BAH14474;CAC83012;EAW93247;EAW93248;NP_001026855;NP_005417;Q13625 Hs.523968 1646252;1651768;1663113;1673902;1725755;1770168;2107703;2116538;2166167;2177379 A009H09;AFMa312xg5;D1S3369;G62067;RH64652;SHGC-53868;SHGC-76404;SHGC-76405;SHGC-76406;TP53BP2__5120 53BP2;53BP2S;ASPP2;BBP;PPP1R13A;p53BP2 BCL2-binding protein;OTTHUMP00000035500;OTTHUMP00000216701;apoptosis-stimulating of p53 protein 2;apoptosis-stimulating protein of p53, 2;renal carcinoma antigen NY-REN-51;tumor suppressor p53-binding protein 2 APPROVED protein-coding ENSG00000143514 12000 11803 602143 REVIEWED 1352381 TP53INP2 tumor protein p53 inducible nuclear protein 2 20 20 20 q11.22 30041236 30050322 + 32755809 32764898 + 33292148 33301237 + 737633;1580863;6480464 12477932 19056683;17238154;15489334;11780052;19934309;21467300;22470510;22750142 58476 Q5JX65;Q5JX66;Q8IXH6 ABBA01019187;AJ297792;AK025412;AK027153;AK292443;AL109824;AL122050;AL137597;AMYH01011866;AY422170;BC035639;CH471077;NM_021202 AAH35639;AAR23799;BAF85132;CAC82592;EAW76256;EAW76257;EAW76258;NP_067025;Q8IXH6 Hs.516994 1683413;1739441;2126640;2165951;2165953 A005U42;D20S714E;G20521;RH28655;WI-8949 C20orf110;DKFZp434B2411;DKFZp434O0827;DOR;FLJ21759;FLJ23500;PINH;dJ1181N3.1 OTTHUMP00000030701;OTTHUMP00000030703;PIG-U;diabetes and obesity regulated;diabetes and obesity-regulated;p53-inducible protein U;tumor protein p53-inducible nuclear protein 2 protein-coding ENSG00000078804 16104 15546 PROVISIONAL 1317577 TP53BP1 tumor protein p53 binding protein 1 15 15 q15-q21 41486699 41590028 - 43699412 43802707 - 1580863;2325154;2325153;6480464 11585747;12374701 9748285;12556884;19626602;19536092;19176521;19116388;19074885;19064641;19001859;18996087;18986980;18931659;18840612;18804090;18664457;18380789;18337245;17985346;17984114;17940005;17927872;17695720;17637749;17634560;17591918;17546051;17190600;17161371;17081983;17043355;16964243;16314399;17525332;12607005;16294047;16294045;16187115;16094384;16051665;15970701;15840649;15611139;15574327;15542852;15539948;15525939;15489334;15342556;15302935;15279780;14702039;14695167;14690447;14576432;12824158;12697768;12668657;12646190;12551934;12477932;12447382;12446782;12364621;12351827;12170762;12110597;11877378;11042216;8910340;8896460;8016121;7890747;15364958;14978302;16169070;12447390;12792649;15456759;15856006;10646849;15149599;16901786;17884766;18029348;19228710;19414588;19422301;19615732;19650074;19656881;19690177;19806024;20010693;20081839;20106900;20307547;20351298;20372852;20379614;20385987;20453000;20453858;19876065;20016603;20596616;19394292;20724228;22865450;16872911;20644561;20646866;20686496;21293379;21373753;21317883;17500065;17805299;17925232;17925396;21444690;21361779;22421153;22860035;22939629;19124460;21635553;20023697;21412056;23337117;21252943;22990118;20824083;20360068;21035370;21914189;22373579;22075984;22084066;22318606;22586326;19471022;23206244;21139048;21552324;21890473;22088370;22034884;21275903;21931182;22266878;15784679;21840613;21566653;22621922;22553214;23000965;23333306;23377543;23246380;21526938;21623170;22677490;22323184;23027628;23383273 7158 A6NNK5;C9JXV0;F8VY86;H7BZY0;H7C151;H7C3N7;H7C495;M0R142;Q12888 AB210025;ABBA01038346;ABBA01038347;ABBA01038348;AC018924;AF078776;AK123418;AK292915;AK295764;AK307405;AMYH01006589;AMYH01006590;AY904026;BC017846;BC063119;BC112161;BP228994;BX537418;CH471125;NM_001141979;NM_001141980;NM_005657;U09477 AAA21596;AAC62018;AAH17846;AAI12162;AAW69392;BAE06107;BAF85604;BAG53901;BAH12183;CAD97660;EAW92604;EAW92605;NP_001135451;NP_001135452;NP_005648;Q12888 Hs.440968 1655482;1660722;1669206;1678427;1713213;1800890;1801738;1803540;1803674;1804316;1805078;1805300;1805816;1806556;1807720;1807992;1808288;1809728;1809808;1810076;1811412;1812832;1813212;1814654;1815994;1817576;1820320;1821682;1822938;1826622;1827090;1830640;1830968;1831304;1833402;1835234;1838278;1838986;1839434;1839682;1841352;1842232;1843384;1843562;1845672;1845764;1851496;1931970;1931972;1931974;1931976;1931978;1931980;1931982;1931984;1931986;1931988;1931990;1931992;1931994;1931996;1931998;1932000;1932002;1932004;1932006;1932008;1932010;1932012;1932014;1932016;1932018;1932020;1932022;1932024;1932026;1932028;1932030;1932032;1932034;1932036;1932038;1932040;1932042;1932044;1932046;1932048;1932050;1932052;1932054;1932056;1932058;1932060;1932062;1932064;1932066;1932068;1932070;1932072;1932074;1932076;1932078;1932080;1932082;1932084;1932086;1932088;1932090;1932092;1932094;1932096;1932098;1932100;1932102;1932104;1932106;1932108;1932110;1932112;1932114;1932116;1932118;1932120;1932122;1932124;1932126;1932128;1932130;1932132;1932134;1932136;1932138;1932140;1932142;1932144;1932146;1932148;1932150;1932152;1932154;1932156;1932158;1932160;1932162;1932164;1932166;1932168;1932170;1932172;1932174;1932176;1932178;1932180;1932182;1932184;1932186;1932188;1932190;1932192;1932194;1932196;1932198;1932200;1932202;1932204;1932206;1932208;1932210;1932212;1932214;1932216;1932218;1932220;1932222;1932224;1932226;1932228;1932230;1932232;1932234;1932236;1932238;1932240;1932242;1932244;1932246;1932248;1932250;1932252;1932254;1932256;1932258;1932260;1932262;1932264;1932266;1932268;1932270;1932272;1932274;1932276;1932278;1932280;1932282;1932284;1932286;1932288;1932290;1932292;1932294;1932296;1932298;1932300;1932302;1932304;1932306;1932308;1932310;1932312;1932314;1932316;1932318;1932320;1932322;1932324;1932326;1932328;1932330;1932332;1932334;1932336;1932338;1932340;1932342;1932344;1932346;1932348;1932350;1932352;1932354;1932356;1932358;1932360;1932362;1932364;1932366;1932368;1932370;1932372;1932374;1932376;1932378;1932380;1932382;1932384;1932386;1932388;1932390;1932392;1932394;1932396;1932398;1932400;1932402;1932404;1932406;1932408;1932410;1932412;1932414;1932416;1932418;1932420;1932422;1932424;1932426;1932428;1932430;1932432;1932434;1932436;1932438;1932440;1932442;1932444;1932446;1932448;1932450;1932452;1932454;1932456;1932458;1932460;1932462;1932464;1932466;1932468;1932470;1932472;1932474;1932476;1932478;1932480;1932482;1932484;1932486;1932488;1932490;1932492;1932494;1932496;1932498;1932500;1932502;1932504;1932506;1932508;1932510;1932512;1932514;1932516;1932518;1932520;1932522;1932524;1932526;1932528;1932530;1932532;1932534;1932536;1932538;2108589;2119772;2140345;2208698;2208700;2208702;2208704;2208706;2208708;2208710;2208712;2208714;2208716;2208718;2208720;2208722;2208724;2208726;2208728;2208730;2208732;2208734;2208736;2208738;2208740;2208742;2208744;2208746;2208748;2208750;2208752;2208754;2208756;2208758;2208760;2208762;2208764;2208766;2208768;2208770;2208772;2208774;2208776;2208778;2208780;2208782;2208784;2208786;2208788;2208790 D15S1322;ECD01310;ECD01749;ECD02671;ECD02743;ECD03082;ECD03481;ECD03596;ECD03859;ECD04235;ECD04833;ECD04974;ECD05125;ECD05856;ECD05896;ECD06030;ECD06704;ECD07429;ECD07626;ECD08357;ECD09037;ECD09838;ECD11235;ECD11927;ECD12557;ECD14425;ECD14660;ECD16456;ECD16620;ECD16788;ECD17844;ECD18772;ECD20313;ECD20672;ECD20899;ECD21024;ECD21872;ECD22319;ECD22901;ECD22990;ECD24054;ECD24101;G31104;REN36814;REN36815;REN36816;REN36817;REN36818;REN36819;REN36820;REN36821;REN36822;REN36823;REN36824;REN36825;REN36826;REN36827;REN36828;REN36829;REN36830;REN36831;REN36832;REN36833;REN36834;REN36835;REN36836;REN36837;REN36838;REN36839;REN36840;REN36841;REN36842;REN36843;REN36844;REN36845;REN36846;REN36847;REN36848;REN36849;REN36850;REN36851;REN36852;REN36853;REN36854;REN36855;REN36856;REN36857;REN36858;REN36859;REN36860;REN36861;REN36862;REN36863;REN36864;REN36865;REN36866;REN36867;REN36868;REN36869;REN36870;REN36871;REN36872;REN36873;REN36874;REN36875;REN36876;REN36877;REN36878;REN36879;REN36880;REN36881;REN36882;REN36883;REN36884;REN36885;REN36886;REN36887;REN36888;REN36889;REN36890;REN36891;REN36892;REN36893;REN36894;REN36895;REN36896;REN36897;REN36898;REN36899;REN36900;REN36901;REN36902;REN36903;REN36904;REN36905;REN36906;REN36907;REN36908;REN36909;REN36910;REN36911;REN36912;REN36913;REN36914;REN36915;REN36916;REN36917;REN36918;REN36919;REN36920;REN36921;REN36922;REN36923;REN36924;REN36925;REN36926;REN36927;REN36928;REN36929;REN36930;REN36931;REN36932;REN36933;REN36934;REN36935;REN36936;REN36937;REN36938;REN36939;REN36940;REN36944;REN36945;REN36946;REN36947;REN36948;REN36949;REN36950;REN36951;REN36952;REN36953;REN36954;REN36955;REN36956;REN36957;REN36958;REN36959;REN36960;REN36961;REN36962;REN36963;REN36964;REN36965;REN36966;REN36967;REN36968;REN36969;REN36970;REN36971;REN36972;REN36973;REN36974;REN36975;REN36976;REN36977;REN36978;REN36979;REN36980;REN36981;REN36982;REN36983;REN36984;REN36985;REN36986;REN36987;REN36988;REN36989;REN36990;REN36991;REN36992;REN36993;REN36994;REN36995;REN36996;REN36997;REN36998;REN36999;REN37000;REN37001;REN37002;REN37003;REN37004;REN37005;REN37006;REN37007;REN37008;REN37009;REN37010;REN37011;REN37012;REN37013;REN37014;REN37015;REN37016;REN37017;REN37018;REN37019;REN37020;REN37021;REN37022;REN37023;REN37024;REN37025;REN37026;REN37027;REN37028;REN37029;REN37030;REN37031;REN37032;REN37033;REN37034;REN37035;REN37036;REN37037;REN37038;REN37039;REN37040;REN37041;REN37042;REN37043;REN37044;REN37045;REN37046;REN37047;REN37048;REN37049;REN37050;REN37051;REN37052;REN37053;REN37054;REN37055;REN37056;REN37057;REN37058;REN37059;REN37060;REN37061;REN37062;REN37063;REN37064;REN37065;REN37066;REN37067;REN37068;REN37069;REN37070;REN37071;REN37072;REN37073;REN37074;REN37075;REN37076;REN37077;REN37078;REN37079;REN37080;REN37081;REN37082;REN37083;REN37084;REN37085;REN37086;REN37087;REN37088;REN37089;REN37090;REN37091;REN37092;REN37093;REN37094;REN37095;REN37096;REN37097;REN37098;REN37099;REN37100;REN37101;RH120394;RH15708;RH44505;RH68009;RH93556;SHGC-63652;TP53BP1_8682;stSG627695;stSG627696;stSG627697;stSG627698;stSG627699;stSG627700;stSG627701;stSG627702;stSG627703;stSG627704;stSG627705;stSG627706;stSG627707;stSG627708;stSG627709;stSG627710;stSG627711;stSG627712;stSG627713;stSG627715;stSG627716;stSG627717;stSG627718;stSG627719;stSG627720;stSG627721;stSG627722;stSG627723;stSG627724;stSG627725;stSG627726;stSG627727;stSG627728;stSG627729;stSG627730;stSG627731;stSG627732;stSG627733;stSG627734;stSG627735;stSG627736;stSG627737;stSG627738;stSG627739;stSG627740;stSG627741;stSG627742 53BP1;FLJ41424;MGC138366;p202 OTTHUMP00000066115;OTTHUMP00000066116;OTTHUMP00000066117;p53-binding protein 1;p53BP1;tumor protein 53-binding protein, 1;tumor protein p53-binding protein, 1;tumor suppressor p53-binding protein 1 protein-coding ENSG00000067369 11999 05569 605230 VALIDATED 1602900 TP53I3 tumor protein p53 inducible protein 3 The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] 2 2 p23.3 24153809 24161232 - 24300303 24308085 - 6480464;6907045 19573080;19349281;19343046;19336552;19064572;18801469;18676680;16169070;15815621;15491642;15489334;15192123;15067011;12477932;11919562;10840161;9305847;8125298;16009130;22461624;19170196;19625176;19692168;19773279;20023697;20453000;20603616;15146197;16344560;22939629;21139048;23241165 9540 H7BZH6;Q53FA7 ABBA01045102;AC008073;AF010309;AF010317;AK223382;AK297579;AMYH01010164;AY371700;BC000474;BC018819;BT007149;CH471053;CN285566;DB032484;DB034176;DB054005;DQ232851;NG_029715;NM_001206802;NM_004881;NM_147184 AAC39528;AAC39535;AAH00474;AAP35813;AAQ90166;AAY14665;ABB02183;BAD97102;BAG59969;EAX00762;EAX00763;EAX00764;EAX00765;EAX00766;NP_001193731;NP_004872;NP_671713;Q53FA7 Hs.50649;Hs.733381 PIG3 OTTHUMP00000116036;OTTHUMP00000116037;OTTHUMP00000200726;OTTHUMP00000200727;p53-induced gene 3 protein;quinone oxidoreductase PIG3;quinone oxidoreductase homolog;tumor protein p53-inducible protein 3 APPROVED protein-coding ENSG00000115129 19373 05527 605171 REVIEWED 1349699 TP53INP1 tumor protein p53 inducible nuclear protein 1 8 8 q22 96007377 96030767 - 95938200 95961615 - 1580863;6480464 18277909;18277906;17537403;17393983;16521180;16344560;16044147;15489334;14702039;12851404;12477932;12438758;12067065;11511362;15706352;21219856;20581827;18974142;20889853;21339733;21538421;22730212;19322201;22470510;22213058;23333058;22421968 94241 C9JAL6;Q96A56 AB017926;AB017927;AB062056;ABBA01037469;ABBA01037470;AC087752;AF409114;AF409115;AK025792;AK123608;AK125880;AK130074;AK315071;AL133074;AL833652;AMYH01018895;BC074813;BC074868;CH471060;DB086880;NM_001135733;NM_033285 AAH74813;AAH74868;AAL04513;AAL04514;BAB62149;BAB62150;BAB62151;BAB62152;BAG37542;EAW91739;EAW91740;EAW91741;NP_001129205;NP_150601;Q96A56 Hs.492261 1699462;1763269;2117130;2184542 RH103322;SHGC-146998;STS-N63582;STS-T19436 DKFZp434M1317;FLJ22139;SIP;TP53DINP1;TP53INP1A;TP53INP1B;Teap;p53DINP1 OTTHUMP00000227253;OTTHUMP00000227254;p53-dependent damage-inducible nuclear protein 1;p53-inducible p53DINP1;stress-induced protein;tumor protein p53-inducible nuclear protein 1 protein-coding ENSG00000164938 18022 09367 606185 VALIDATED 70502 TP53 tumor protein p53 This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013] 17 17 p13.1 7512445 7531642 - 7571720 7590868 - 1580742;1580743;1302543;1302544;1331525;1302545;1580863;1302573;1300048;1358139;2290536;2290541;2290573;2290535;2290544;2290545;2290568;2290534;2290537;2290542;2290557;2290572;2290531;2290533;2290540;2289931;2298527;2298525;2298526;2290554;2290561;2290532;2290539;2290551;2290571;2290577;2316186;2316155;2316156;4143515;5133242;5490966;6480464;6484113;6907045;7240710;7248687 14740296;15272143;7704023;10783170;15118671;1978757;10786799;18208803;1540970;17581637;18225585;17094408;16889904;17661174;18230179;16033093;1631137;18083315;17595763;2250913;18268397;1310251;17119686;17354237;18431720;17969407;18317410;17901943;18270948;18092324;18337831;17599090;17470299;19165225;19450511;16601750;19078924;20951313;18772397;22614867 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AAA59987;AAA59988;AAA61211;AAA61212;AAB28601;AAB39322;AAC12971;AAD28535;AAD28628;AAF36354;AAF36355;AAF36356;AAF36357;AAF36358;AAF36359;AAF36360;AAF36361;AAF36362;AAF36374;AAF36375;AAF36376;AAF36377;AAF36378;AAF36379;AAF36380;AAF36381;AAF36382;AAF63442;AAF63443;AAG28785;AAH03596;AAK76358;AAK76359;AAP30003;AAQ90158;AAR10356;AAR13239;AAT40418;AAV38428;AAV80424;AAZ05887;ABA29753;ABA29754;ABA29755;ABA29756;ABA29757;ABB72446;ABB80262;ABB80266;ABD62752;ABF51616;ABF51617;ABF51618;ABF51619;ABF61799;ABF61800;ABG49480;ABG49481;ABG49482;ABG67755;ABL09846;ABL09847;ABL09848;ABM83418;ABM86630;ACI25593;AEX20383;AEY81366;AEY81367;AEY81368;AEY81369;AFN61604;AFN61605;AFN61606;BAC16799;BAD11806;BAD96746;BAG35463;BAG59884;BAG60244;BAG64357;CAA25652;CAA26306;CAA38095;CAA42625;CAA42626;CAA42627;CAA42628;CAA42629;CAA42630;CAA42631;CAA42632;CAA42633;CAA42634;CAA42635;CAJ28922;CAJ28923;CAJ28924;EAW90140;EAW90141;EAW90142;EAW90143;EAW90144;EAW90145;NP_000537;NP_001119584;NP_001119585;NP_001119586;NP_001119587;NP_001119588;NP_001119589;NP_001119590;NP_001263624;NP_001263625;NP_001263626;NP_001263627;NP_001263628;NP_001263689;NP_001263690;P04637 Hs.437460;Hs.740601 1673708;1736682;1741087;1741103;1741111;1741191;1741517;1741519;1741649;1741899;1741943;1741949;1742009;1742061;1742985;1743427;1743643;1743645;1743647;1743649;1743651;1743653;1743655;1743657;1745395;1745397;1745409;1791346;1791724;1791726;1791728;1792038;1792040;1792640;1793422;1793424;1793426;1793428;1793958;1794644;1794860;1796992;2170101;5015619;5022578 D11S3114;D17S1506E;D17S1678;D1S1423;GDB:177724;GDB:177797;GDB:177814;GDB:178567;GDB:181271;GDB:181272;GDB:181608;GDB:186560;GDB:186921;GDB:186984;GDB:188738;GDB:190076;GDB:227151;GDB:316876;GDB:363686;GDB:363689;GDB:363692;GDB:363698;GDB:363701;GDB:363704;GDB:363724;GDB:363795;GDB:604633;GDB:605513;GDB:606441;PMC105081P1;PMC122799P1;PMC122799P2;PMC122799P3;PMC135765P1;PMC135765P2;PMC156059P1;PMC22021P1;PMC22021P2;PMC22021P3;PMC22021P4;PMC310707P2;PMC340938P3;PMC60253P1;TP53_278;WI-20715 BCC7;FLJ92943;LFS1;P53;TRP53 OTTHUMP00000221333;OTTHUMP00000221334;OTTHUMP00000221336;OTTHUMP00000221337;OTTHUMP00000221340;antigen NY-CO-13;cellular tumor antigen p53;mutant p53 protein;p53 antigen;p53 transformation suppressor;p53 tumor suppressor;phosphoprotein p53;transformation-related protein 53;truncated p53 protein;tumor suppressor TP53;tumor suppressor p53 APPROVED protein-coding ENSG00000141510 11998 01859 114480;114500;114550;137800;151623;191170;202300;259500;260350;260500;607107;614740 REVIEWED 1345809 TP53TG1 TP53 target 1 (non-protein coding) 7 7 7 q21.1 81659523 81679678 - 86954663 86974808 - 86954663 86974808 - 1580863;6480464 9713990;12690205;12477932;21832049 11257 Q9Y2A0 AACC02000015;AB007455;AB007456;AB007457;AB007458;ABBA01045869;AC005045;AK292782;AMYH01017669;BC002709;BC061927;BC068535;BC103631;BT009845;CH236949;CH471091;CR542141;NR_015381 AAP88847;BAA78640;BAA78641;BAA78642;BAA78643;BAF85471;CAG46938;EAL24178;EAW76955;EAW76956;EAW76957;EAW76958;EAW76959;Q9Y2A0 Hs.274329 2153536 RH17778 LINC00096;NCRNA00096;P53TG1;P53TG1-D;TP53AP1 miscrna ENSG00000182165 17026 10276 PREDICTED 1602331 TP53TG3 TP53 target 3 16 16 p13 32592350 32595554 - 32684849 32687448 - 6480464 14702039;12477932;10534768;19322201 24150 I3L219;Q9ULZ0 AB023508;ABBA01158321;AC138907;AK097435;AK312220;AL133588;BC096733;BC098165;NM_001267813;NM_016212 AAH96733;AAH98165;BAA84978;BAG35153;CAH10710;NP_001254742;NP_057296;Q9ULZ0 Hs.592038;Hs.624982;Hs.706716 5024730;5123581;5124667 RH65193;RH92775;SHGC-53828 P53TG3;TP53TG3A;TP53TG3B;TP53TG3C;TP53TG3D TP53-inducible gene 3 protein;TP53-target gene 3 protein;p53 target gene 3 protein-coding 30759 18215 VALIDATED 3302253 TP53TG3B TP53 target 3B 16 16 p11.2 33168192 33172228 + 33262120 33264719 + 10534768;12477932;23251661 729355 Q9ULZ0 AB023508;ABBA01162117;AC141257;AK097435;AK312220;AL133588;BC096733;BC098165;CA425760;NM_001099687;NM_001205265 AAH96733;AAH98165;BAA84978;BAG35153;CAH10710;NP_001093157;NP_001192194;Q9ULZ0 Hs.592038;Hs.624982;Hs.706716;Hs.741147 5024730;5091741;5121828;5123581;5124667 RH65193;RH92775;SHGC-53828;SHGC-60493;SHGC-60503 MGC119888;TP53TG3;TP53TG3A;TP53TG3C;TP53TG3D TP53-inducible gene 3 protein;TP53-target gene 3 protein protein-coding 37202 VALIDATED 5685709 TP53TG3C TP53 target 3C 16 p11.2 33205585 33207559 + 10534768;16344560;17213182;12477932 653550 Q9ULZ0 AB023508;AC138869;AK097435;AK312220;AL133588;BC096733;BC098165;DB053188;DT215671;NM_001205259;NM_001205260 AAH96733;AAH98165;BAA84978;BAG35153;CAH10710;NP_001192188;NP_001192189;Q9ULZ0 Hs.592038;Hs.624982;Hs.706716 5024730;5123581 RH65193;SHGC-53828 TP53TG3;TP53TG3B;TP53TG3D TP53-inducible gene 3 protein;TP53-target gene 3 protein;TP53-target gene 3 protein-like protein-coding ENSG00000205457 42962 VALIDATED 7205173 TP53TG3D TP53 target 3D 16 p11.2 32264650 32267243 + 12477932 729264 H3BT92;Q9ULZ0 AB023509;AC133485;AMYH01007524;BC096700;BC099842;CR541650;NM_001243722 AAH96700;AAH99842;BAA84979;CAG46451;NP_001230651 Hs.513537 5024730;5123581;5124667 RH65193;RH92775;SHGC-53828 TP53 target 3D protein-coding 44657 PROVISIONAL 1317644 TP53RK TP53 regulating kinase 20 20 20 q13.2 42024485 42029757 - 44746411 44751683 - 45313004 45318276 - 1580863;6480464 11546806;17712528;16600182;16189514;15489334;14702039;12914926;12659830;12477932;11780052;8889548;15380516;22912744;20677014;22939629;21139048;21906983;19322201;22863883;22505724 112858 Q5JZ02;Q96S44 AB017505;AB065434;ABBA01052683;AK096502;AK315182;AL031055;AL133520;AMYH01011944;BC009727;BC010637;BC019621;BC035461;BC066309;BM702732;CH471077;NM_033550 AAH09727;AAH10637;AAH66309;BAB61875;BAB62041;BAG37623;BAG53306;EAW75727;NP_291028;Q96S44 Hs.440263 1664642;1664644;1685780;1768145;1776832;2149018;2153107 AL022352;D20S1132;G27374;RH45751;RH66104;RH79978;STS-AA113277 BUD32;C20orf64;Nori-2;Nori-2p;PRPK;dJ101A2 OTTHUMP00000108264;OTTHUMP00000108265;TP53-regulating kinase;p53-related protein kinase protein-coding ENSG00000172315 16197 12276 608679 VALIDATED 6770651 TPBGL trophoblast glycoprotein-like 11 q13.4 74951950 74954749 + 12477932 100507050 P0DKB5 ABBA01017471;AMYH01003814;AP001972;BC007804;N54218;NM_001195528 NP_001182457;P0DKB5 Hs.577323;Hs.744257 1656372 SGC38123 trophoblast glycoprotein-like;uncharacterized protein LOC100507050 protein-coding ENSG00000261594 44159 VALIDATED 1625138 TP73-AS1 TP73 antisense RNA 1 1 1 1 p36.32 2906589 2917978 - 3642408 3653746 - 3652548 3663937 - 6480464 12477932;9455484;20477830;22388545 57212 Q9UF72 AB007964;ABBA01073653;AL133648;AL136528;AMYH01000192;BC013872;BC035073;BC044603;BC089039;BC093699;BC111984;CH471130;NR_033708;NR_033709;NR_033710;NR_033711;NR_033712 AAH93699;AAI11985;CAB63767;EAW71471;EAW71472;EAW71473;EAW71474;Q9UF72 Hs.49658 1662692;1663539;1664333;1851087;5093018;5118444 A009E17;D11S3316;G32472;RH68672;SHGC-74135;SHGC-74137 KIAA0495;MGC138189;PDAM APPROVED miscrna ENSG00000227372 29052 13803 VALIDATED 1350426 TP53TG5 TP53 target 5 20 20 20 q13.12 40711034 40715471 - 43435934 43440371 - 44002520 44006957 - 6480464 10719363;15489334;12477932;11780052;21832049 27296 G5EA57;Q9Y2B4 AB017802;ABBA01052660;AK295308;AL021578;AMYH01011937;BC036785;CH471077;HC044599;NM_014477 AAH36785;BAA76405;BAG58288;CBH30629;EAW75858;EAW75859;NP_055292;Q9Y2B4 Hs.743657 1675279 WI-16033 C20orf10;CLG01 OTTHUMP00000031131;TP53-inducible gene 5 protein;TP53-target gene 5 protein protein-coding ENSG00000124251 15856 12733 VALIDATED 1345613 TPBG trophoblast glycoprotein This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] 6 6 q14-q15 83130258 83133347 + 83072923 83077134 + 1580863;6480464 10366710;18833005;18567615;17978129;16646078;16616918;16303743;15489334;14574404;12481437;12477932;11903056;11798178;8895545;8132670;7593330;22939629;22956548;21139048;22498111 7162 A8K555;Q13641 ABBA01040444;AI342491;AI857997;AJ012159;AK074786;AK074790;AK291170;AL121977;AMYH01016465;BC037161;CH471051;CQ782726;NM_001166392;NM_006670;Z29083 AAH37161;BAF83859;BAG52001;CAA09930;CAA82324;CAF85961;EAW48683;NP_001159864;NP_006661;Q13641 Hs.82128 2140222;2163461;7186926 RH69287;STS-Z29083 5T4;5T4-AG;5T4AG;M6P1 5T4 oncofetal antigen;5T4 oncofetal trophoblast glycoprotein;5T4 oncotrophoblast glycoprotein;trophoblast glycoprotein APPROVED protein-coding ENSG00000146242 12004 01837 190920 REVIEWED 1316062 TP73 tumor protein p73 This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011] 1 1 p36.3 3558989 3639716 + 3569129 3652765 + 1580863;1599583;2291831;2291830;2291837;2290584;2290587;2290585;2291835;2291842;2290492;2290586;2291838;2290590;2290582;2290588;2291833;2291834;2291836;2298528;2298530;2298529;2290583;2290589;6480464;6907045 9288759;11103943;11139314;9796703;16254107;16928264;10634515;15716325;17011986;16818688;17353261;11720444;15492852;11051237;10760569;10383132;15723718;12928725;15492805;17446929;11870517 21443127;22474346;22538442;22496369;23055192;23065572;18701437;18678646;18593586;18579560;18565851;18555006;18546269;18499675;18480060;18477895;18469517;18421303;18418051;18362891;18350258;18343378;18342333;18289041;18260640;18259191;18239687;18234963;18174154;18049450;18022156;17982488;17952118;17912537;17889669;17825253;18701449;17761206;10469568;11748232;14729977;15678106;10391251;10391249;19585505;19576172;19523927;19442657;19426493;19423161;19390575;19386249;19360352;19293798;19204927;19197996;19188449;19182530;19173293;19158275;19148480;19139399;19111660;19109226;19106635;19096009;19074885;19020940;19012493;19008105;19008096;18988287;18978678;18950845;18922894;18719392;17716971;17693405;17690711;17626635;17617876;17611664;17496887;17452332;17428654;17385050;17347683;17346710;17336302;17304243;17297437;17169329;17150106;17136456;17094900;17058198;17047653;17018588;17013834;16980297;16953234;16950799;16869745;16831876;16815295;16814250;16750013;16741250;16738062;16721041;16710414;16645632;16636659;16601753;16580132;16449968;16436381;16434604;16430884;16413471;16397624;16344560;16343436;16290057;16235026;16205639;16203738;16195739;16181796;16135803;16110322;16087678;16087177;16044147;15985436;15978938;15975558;15921610;15919663;15877106;15865927;15865923;15849742;15813917;15769743;15741235;15737644;15734740;15723830;15650240;15609309;15598310;15578704;15572666;15572378;15558019;15489334;15475076;15466174;15450420;15390192;15360002;15359011;15302867;15291355;15184504;15180941;15175157;15175114;15161684;15138575;15081420;17695396;15077164;15070730;15066318;15033688;14760085;14757278;14732927;14719122;14701724;14678968;14654547;14654522;14634023;14618632;14614455;14522906;14511408;12969350;12954772;12954612;12934108;12920125;12901798;12890487;12875622;12853970;12841870;12824179;12810679;12789260;12782576;12766778;12761493;12750388;12732139;12676926;12642871;12639967;12601175;12584188;12546528;12534345;12519788;12477932;12430182;12427762;12388104;12353228;12213815;12167641;12164325;12150978;12133444;12097319;12095638;12082536;12080043;12034725;12032848;12023887;11988839;11957139;11925430;11920588;11909952;11897798;11891335;11859407;11844800;11844794;11840343;11839584;11832207;11804596;11788901;11753569;11720435;11709703;11706030;11675903;11470228;11389695;11279015;11278685;11238924;11223036;11101847;10961991;10873608;10802655;10744705;10648616;10574463;10509157;10449409;10435614;10419905;10400412;10391250;10381648;10362363;10221564;10207051;10203277;10102633;9891077;9802988;9721206;9537234;9296498;15893728;12730672;21290209;21482671;21212274;16512489;21109973;20540768;20336668;20530692;21114965;21127199;10373484;11275986;15483136;15844599;17110958;17592138;18280240;19016816;19509292;19509552;19541822;19581013;19597475;19657586;19666006;19671150;20615966;19727727;19763140;19789190;19815500;19851296;19861536;19876867;19885566;19952113;19956069;20081800;20100536;20185758;20198315;20211107;20298673;19690970;20528922;22228141;22833565;21146529;16170377;20308539;19947923;18573881;20803057;21093410;19779497;20010785;20146801;20471636;20807817;20675383;20676143;22729911;19763917;20926182;19777343;20644729;20842728;21129776;20845513;21048031;20644561;20644956;20733477;12154353;22455848;22728462;22873408;22917970;22981223;23085759;20588255;15454570;21502193;19119599;20581467;21427767;20305378;21245298;22990118;21399658;21344162;21801448;21873427;19581926;21516125;21127500;22971533;21088494;21380933;21233848;21402718;21672615;19490146;20807285;21852228;21933882;16998810;21979586;21807636;23095717;23243311;23362263;23386643;22075982;22389451;22449255;22523600;22589738;21139048;21717430;21811875;21891782;21906983;22419114;22457351;20844987;22508983;21573788;21617940;21711160;21725362;21738216;21933556;21946516;22011187;22076304;22240899;22340593;22201672;21976716;23188674;21837762;15339933;21261729;22430213;23193016;22535334;23667531;21903324;22718761;22534503;23228853;18640976;19218448;21994467;22702391;22952705;22974165 7161 C9J521;Q8TDY5 AB031234;AB055065;AB055066;ABBA01073653;ABBA01073654;ABBA01073655;AF077616;AF077618;AF077619;AF077620;AF077621;AF077625;AF077626;AF077627;AF077628;AF079082;AF079083;AF079084;AF079085;AF079086;AF079087;AF079088;AF079089;AF079090;AF079091;AF079092;AF079093;AF079094;AF235000;AI094238;AK295669;AK302118;AK304177;AK304784;AK310432;AL136528;AMYH01000192;AY040827;AY040828;AY040829;BC117251;BC117253;CH471130;DA439168;DA446656;DC345760;NG_017035;NM_001126240;NM_001126241;NM_001126242;NM_001204184;NM_001204185;NM_001204186;NM_001204187;NM_001204188;NM_001204189;NM_001204190;NM_001204191;NM_001204192;NM_005427;Y11416 AAC61887;AAD39696;AAI17252;AAI17254;AAK81884;AAK81885;AAK81886;ADR83099;BAB87244;BAB87245;BAH12150;BAH13630;BAH14127;BAH14257;CAA72219;CAA72220;CAA72221;EAW71463;EAW71464;EAW71465;EAW71466;EAW71467;EAW71468;NP_001119712;NP_001119713;NP_001119714;NP_001191113;NP_001191114;NP_001191115;NP_001191116;NP_001191117;NP_001191118;NP_001191119;NP_001191120;NP_001191121;NP_005418;O15350 Hs.192132 1298138;1664333;1732892;1763477;1763479;2191349;7185314 D1S1310;D1S468;MARC_17809-17810:1024936155:1;SHGC-147179;SHGC-147180;SHGC-74137 P73 OTTHUMP00000000662;OTTHUMP00000003477;OTTHUMP00000003478;OTTHUMP00000003479;OTTHUMP00000003480;p53-like transcription factor;p53-related protein;tumor protein p73 APPROVED protein-coding ENSG00000078900 12003 03587 601990 REVIEWED 1344084 TPCN1 two pore segment channel 1 Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008] 12 12 12 q24.13 113286083 113363215 + 112143652 112218317 + 113659260 113736390 + 724765;6480464;7204697 10753632;20018950 19387438;16382101;16344560;14702039;12477932;12168954;10574461;22500018;19620632;22270358;23149075 53373 B7Z3R2;F8VR74;F8VS97;F8VV93;F8VVY9;F8VZZ6;F8W0K7;F8W0P9;F8W1G4;F8W1L6;H0YHX1;H0YIK4;Q9ULQ1 AB032995;ABBA01019949;ABBA01019950;ABBA01019951;ABBA01019952;ABBA01019953;AC010178;AC089999;AC127004;AK000619;AK025838;AK057414;AK075071;AK093490;AK295022;AK296268;AMYH01004759;AMYH01004760;AY083666;BC007419;BC068001;BC069234;BC110885;BC136795;BC136796;BC142664;BC150203;BC152423;CH471054;DA777641;NM_001143819;NM_017901 AAI36796;AAI36797;AAI42665;AAI50204;AAI52424;AAM01199;BAA86483;BAA91290;BAC11385;BAG52729;BAH11951;BAH12298;EAW98046;EAW98047;NP_001137291;NP_060371;Q9ULQ1 Hs.524763 1650317;1677126;1699114;1758503;1775070;2115762;2141153;2153212;2162301;5017631 A004Q10;D12S1195E;D12S1973;G16004;RH103133;RH44581;RH79706;SHGC-148490;STS-AA001615;TPCN1 FLJ20612;KIAA1169;TPC1 OTTHUMP00000241729;OTTHUMP00000241730;OTTHUMP00000241731;two pore calcium channel protein 1;two-pore channel 1;two-pore segment channel 1;voltage-dependent calcium channel protein TPC1 APPROVED protein-coding ENSG00000186815 18182 18217 609666 VALIDATED 1604844 TP63 tumor protein p63 This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq, Jul 2008] 3 3 q28 190831910 191097759 + 189349216 189615068 + 2315431;2315433;2315430;1600403;2315432;2315434;2315435;2315436;6480464;7240710 18955789;17982114;19690775;10535733;17998283;17189982;16804722;19402389 20656547;21363924;12446779;12446784;9774969;9662378;11641404;10373484;10657951;18029348;19451233;19369629;19347829;19345189;19342891;19278431;19267405;19239089;19239083;19142959;19124002;19092634;19089994;19068396;19049519;19032382;18971778;18927586;18833815;18831009;18813784;18813120;18806757;18801085;18794855;18792980;18769144;18726671;18676680;18662989;18633439;18626511;18615589;18603493;19282665;18593911;18515319;18483491;18432259;18418053;18412244;18411264;18364388;18328806;18317223;18311114;18256893;18256694;18203782;18199584;18198175;18194839;18192965;18087216;18085379;18064689;18048390;18037962;17984111;17965458;17951196;17915261;17905096;17903252;17880529;17716971;17688405;17637751;17637746;17615180;17609671;17606614;17599745;17582001;17581882;17525625;17521434;17499344;17498688;17446929;17404570;17399686;17392828;17385050;17336302;17312919;17276940;17188034;17172858;17159913;17106255;17050669;17018588;16979518;16842248;16831876;16740912;16715076;16681688;16681687;16679535;16630179;22367298;16618808;16616891;16581802;16575619;16516862;16481749;16462763;16449968;16446369;16417229;16413471;16410722;16406339;16398404;16343436;16324199;16322335;16319531;16319057;16283378;16273287;16273188;16258268;16187309;16181796;16152605;16133456;16082248;16007146;15988026;15988020;15983386;15965232;15944736;15922574;15875781;15846104;15761962;15611636;15578720;15551738;15539951;15529180;15489655;15489334;15467455;15389254;15359011;15254760;15201986;15024707;15001991;14757278;14729977;14684701;14656652;14654529;14654522;14599865;14555649;14519656;12969350;12954772;12939657;12815266;12788532;12782800;12692135;12534798;12533521;12525544;12477932;12379768;12379767;12374749;12368193;12358808;12357472;12161593;12102658;12086851;12037717;11957139;11932750;11929852;11925430;11893750;11879774;11839669;11787035;11739646;11733180;11727253;11532371;11528512;11477076;11462173;11336476;11248048;11238924;11181451;11181441;11159940;10935472;10839977;10805802;10744705;10485447;10469295;9799841;9799226;9703973;9662346;9618472;9405685;8889548;8695800;12481011;12750249;12653579;12185332;12640112;11278685;22441934;22538442;22672905;21741828;21898830;22071691;22257901;22496369;22607287;22659744;22797724;22489697;22496164;21317427;21576089;21300884;16375115;21317878;21520071;21088498;21114965;21127199;21325799;20972438;20463571;20211142;20888799;20950370;21048031;21063684;19898932;20644729;20871597;20308539;20445549;20607803;11106548;18246802;18330953;18937546;19170196;19188816;19353588;19430419;19450441;19458633;19517019;19526317;19530185;19577853;19578750;19586494;19622632;19625176;19668228;19676060;19690760;19692168;19700772;19725154;19773378;19781362;19815500;19829080;19843673;19858204;19898465;19903181;19920075;20016275;20023394;20038814;20081800;20100581;20107313;20145131;20182342;20219920;20298673;20379614;20424325;20442293;20052674;20410354;17822623;20357260;20403333;20457941;21075072;21115930;20613985;20634891;20348956;20714441;20962848;20379195;20638300;20729916;20829881;21164283;20150431;20951678;20556892;20959455;21234707;21289519;21364617;21478550;20523354;21042780;19119599;19160863;21319317;21326813;21427767;21434540;21464285;16646404;20972454;21129360;21191146;21170261;21299870;21356385;21204238;21881870;22249251;22690848;22901151;22902906;22361733;22949650;23019126;23362460;23028944;23029228;23235527;23370280;22951905;21325887;21367858;21631272;21078104;21623182;21586512;21703418;21821031;21717589;16908849;21674157;21181306;21705376;21760596;23219093;23318911;23324337;21610222;21036415;21447682;21631996;21373745;22623071;22740388;21402718;22020940;22027432;21643019;21959367;22053213;21511729;21802344;21088494;21715473;21527555;21777423;21417823;21652629;21897369;21933882;21880709;21789189;21980285;21646640;21967648;22228303;21833468;21965674;22075982;22538425;20189848;21637289;21765392;22007675;22100306;23095717;23420876;22406481;21623385;21986963;15367673;20571051;20855944;22356768;22367405;22574117;22706304;22247000;22342398;22553810;22575646;21725308;22056305;22056955;22069181;22076464;22096589;22158419;22184109;22240899;22247550;22253920;22310392;22364861;22549865;23016917;23243311;23376119;11714701;22452794;23239884;23243027;22673192;20085233;21988832;23071680;22065540;23143601;23489692;15339933;22287651;22491513;22573176;22577164;22855598;22935697;21690062;22943673;22963430;23221041;22787154 8626 C9JW72;Q9UBV9 AB010153;AB016072;AB016073;AB042841;ABBA01058338;ABBA01058339;ABBA01058340;ABBA01058341;ABBA01058342;AC063939;AC078809;AC117486;AF075428;AF075429;AF075430;AF075431;AF075432;AF075433;AF091627;AF116769;AF116770;AF116771;AF124539;AF124540;AJ315499;AK304127;AMYH01013754;AMYH01013755;AY339663;AY341143;AY341144;AY342152;AY342153;AY342154;BC039815;CB241431;CH471052;GQ202689;GQ202690;NG_007550;NM_001114978;NM_001114979;NM_001114980;NM_001114981;NM_001114982;NM_003722;Y16961 AAC43038;AAC62633;AAC62634;AAC62635;AAC62636;AAC62637;AAC62638;AAF43486;AAF43487;AAF43488;AAF43489;AAF43490;AAF43491;AAF43492;AAF43493;AAF61624;AAG45607;AAG45608;AAG45609;AAG45610;AAG45611;AAG45612;AAH39815;AAQ63448;AAQ63449;AAQ63450;AAQ63451;AAQ63452;AAQ63453;AAQ63454;ABZ92198;ACV53609;ACV53610;BAA32433;BAA32592;BAA32593;BAB20591;BAH14112;CAA76562;CAC48053;EAW78112;EAW78113;EAW78114;EAW78115;EAW78116;EAW78117;EAW78118;EAW78119;EAW78120;NP_001108450;NP_001108451;NP_001108452;NP_001108453;NP_001108454;NP_003713;Q9H3D4 Hs.137569 1341526;1653872;1668526;1721081;1751947;1763243;1793684;1793686;2126078;2152364 D3S2398;D3S2481;D3S3422;G33179;G59523;PMC25851P1;PMC25851P2;SHGC-105974;SHGC-146972;WI-11062 AIS;B(p51A);B(p51B);EEC3;KET;LMS;NBP;OFC8;RHS;SHFM4;TP53CP;TP53L;TP73L;p40;p51;p53CP;p63;p73H;p73L CUSP;OTTHUMP00000209732;OTTHUMP00000209733;OTTHUMP00000209734;OTTHUMP00000209735;OTTHUMP00000209737;OTTHUMP00000209738;OTTHUMP00000209739;OTTHUMP00000209740;OTTHUMP00000209741;OTTHUMP00000209742;OTTHUMP00000209743;OTTHUMP00000209744;amplified in squamous cell carcinoma;chronic ulcerative stomatitis protein;keratinocyte transcription factor KET;transformation-related protein 63;tumor protein 63;tumor protein p53-competing protein;tumor protein p53-like;tumor protein p63 deltaN isoform delta;tumor protein p73-like APPROVED protein-coding ENSG00000073282 15979 04469 103285;106260;129400;603273;603543;604292;605289 REVIEWED 1320807 TPD52L1 tumor protein D52-like 1 This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 6 q22-q23 126219917 126329682 + 125516578 125626343 + 125474879 125584644 + 1580863;6480464 9484778;16112108;12963375;16631610;16620967;14761963;14702039;12477932;11549320;9730602;8812487;7796418;16169070;11594751;22318606 7164 E9PNK6;E9PNQ9;E9PPQ1;F6V707;J3KNE7;Q5TDQ0 ABBA01025954;ABBA01025955;AF004427;AF208012;AK090516;AK124817;AK291866;AK291872;AK291887;AL121938;AL136128;AMYH01016645;BC002375;BE409865;CH471051;NG_029911;NM_001003395;NM_001003396;NM_001003397;NM_003287;U44427;U44428;U44429 AAB40894;AAB40895;AAB40896;AAC98475;AAG49634;AAH02375;BAF84555;BAF84561;BAF84576;EAW48142;EAW48143;EAW48144;EAW48145;EAW48146;EAW48147;NP_001003395;NP_001003396;NP_001003397;NP_003278;Q16890 Hs.591347 1671046;1687836;1709196;1726895;1774487;1785870;1851305;2138724;5024798 17663ft;D6S2149;D6S2170;G62690;RH46614;RH69653;RH92693;SHGC-112379;SHGC-85776 D53;MGC8556;TPD52L2;hD53 OTTHUMP00000017133;OTTHUMP00000017134;OTTHUMP00000017135;OTTHUMP00000017136;OTTHUMP00000228908;OTTHUMP00000228944;OTTHUMP00000228945;OTTHUMP00000228946;OTTHUMP00000228947;OTTHUMP00000228948;tumor protein D52-like 2;tumor protein D53 APPROVED protein-coding ENSG00000111907 12006 07236 604069 REVIEWED 1323411 TPCN2 two pore segment channel 2 This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009] 11 11 11 q13.3 66156085 66198158 + 68572926 68614648 + 68816350 68858072 + 1580863;6480464;7204697 20018950 19387438;18488028;16554811;16382101;15489334;15342556;15203218;14702039;12477932;20585627;20720007;20495006;19620632;23077736 219931 E7ETX0;Q59G56;Q8NHX9 AB209253;ABBA01023972;AK023366;AK123089;AK298919;AL137479;AMYH01003770;AP003071;AW177543;AY029200;BC063008;BP380645;CD636711;CH471076;NG_016153;NM_139075 AAH63008;AAK31802;BAD92490;BAG51185;BAG61025;CAB70760;EAW74734;EAW74735;EAW74736;EAW74737;NP_620714;Q8NHX9 Hs.131851 1762587;1789126;2184270;5020948 G35510;G65699;SGC31049;SHGC-146387 FLJ41094;SHEP10;TPC2 OTTHUMP00000237209;OTTHUMP00000237212;two pore calcium channel protein 2;two-pore calcium channel protein 2;voltage-dependent calcium channel protein TPC2 APPROVED protein-coding 20820 18218 612163;612267 REVIEWED 1606756 TPD52L3 tumor protein D52-like 3 This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 9 9 9 p24.1 6265808 6269359 + 6318375 6321900 + 6328349 6331900 + 6480464 16631610;16189514;14702039;12477932;15342556;21832049;22699663 89882 Q96J77 ABBA01065398;AI032390;AK057479;AL133480;AMYH01019206;AY032877;BC017589;BC033792;BC042113;BI463769;BP369721;CH471071;DB507802;HC007194;HC044679;NM_001001874;NM_001001875;NM_033516 AAH17589;AAH33792;AAH42113;AAK66820;ADZ15762;BAB71505;CBH19402;CBH30669;EAW58745;EAW58746;EAW58747;NP_001001874;NP_001001875;NP_277051;Q96J77 Hs.351815 1689528;2219220 NYD-SP25__6096;RH92614 MGC26757;MGC45374;NYD-SP25;NYDSP25;hD55 OTTHUMP00000021042;OTTHUMP00000021043;OTTHUMP00000021044;protein kinase NYD-SP25;testis development protein NYD-SP25;tumor protein D55 APPROVED protein-coding ENSG00000170777 23382 14864 REVIEWED 1321554 TPGS2 tubulin polyglutamylase complex subunit 2 This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012] 18 18 18 q12.2 31185470 31218594 - 32630032 32663156 - 34376034 34409158 - 737633;6480464 12477932 15489334;15334068;15221005;16189514;15890843;16341674;21963094;21906983;23251661 25941 B4DIX2;K7EIJ9;K7EJA6;K7EK44;K7EKC0;K7ELA6;K7EN50;K7ENZ9;K7EP30;K7ERK3;Q68CL5 AA677381;AB073382;ABBA01022427;AC009854;AC090333;AK000543;AK295817;AL050225;AMYH01008940;AW206050;AY598336;BC015178;BC022199;BC087845;BG420782;BG723541;BM796279;BQ670058;BU543495;BU627145;BX107606;CA425930;CH471088;CX783476;DA512668;NM_001271949;NM_001271950;NM_001271951;NM_001271952;NM_001271953;NM_001271954;NM_001271955;NM_001271956;NM_015476 AAH15178;AAH22199;AAH87845;AAT06747;ADZ15780;BAD38633;BAG58634;CAB43322;EAX01383;EAX01384;EAX01385;EAX01386;NP_001258878;NP_001258879;NP_001258880;NP_001258881;NP_001258882;NP_001258883;NP_001258884;NP_001258885;NP_056291;Q68CL5 Hs.436636 1661333;1676750;2119882;2143120 RH25799;SGC33337;SHGC-57062;WI-13694 C18orf10;DKFZp586M1523;HMFN0601;HsT3006;L17;PGs2 tubulin polyglutamylase complex subunit 2 APPROVED protein-coding ENSG00000134779 24561 12684 REVIEWED 3207650 TPI1P1 triosephosphate isomerase 1 pseudogene 1 1 1 1 p31.1 75404914 75406130 + 76925402 76939280 + 77165440 77166710 + 16201836;4022011;21628590;21963094;21145461 729708 Q2QD09 ABBA01074408;AC104458;AMYH01000718;DQ120711;NG_008262 ABC40670 1677788;1750239;2180598;5092778 D1S3365;G32324;RH67005;SHGC-112601 RCTPI1 pseudo 35449 INFERRED 1315573 TPD52 tumor protein D52 8 8 q21 81109658 81246391 - 80947103 81083836 - 1580863;6480464 18800346;15576473;9484778;8632896;16112108;10942595;18959755;18710659;18698023;17947466;17418805;17081983;16631610;16620967;15986428;15489334;14996714;14702039;12963375;12477932;11594751;11549320;8812487;8125298;7796418;21385902;19624875;19041365;19732746;19834535;20032513;20379614;20423888;20846453;20946871;20923822;20641033;22863883;22939629;21338318;21139048;21890473;21906983;21963094;21988832;23000965;23104178;23444366;23319000;22053931 7163 C9J502;D0UFD1;D0UFD3;D0UFD4;D0UFD5;E5RFR7;E5RGI1;E5RJ27;E5RK35;F5H0B0;H0YC44;Q9UCX8 ABBA01004070;ABBA01004071;ABBA01004072;ABBA01004073;AC009686;AF202897;AK057075;AK223631;AK295468;AK296615;AK308983;AK313135;AMYH01018821;AMYH01018822;BC018117;BI546831;BI551254;BT019444;BX640835;CA842828;CH471068;CR542034;CR542064;EF152584;GQ499324;GQ499325;GQ499326;GQ499327;GQ499328;NM_001025252;NM_001025253;NM_005079;S82081;U18914 AAB36475;AAC50183;AAH18117;AAO22156;AAV38251;ABM81958;ABM85137;ABO34073;ACY08776;ACY08777;ACY08778;ACY08779;ACY08780;BAD97351;BAG35954;BAH12078;BAH12400;CAE45908;CAG46831;CAG46861;EAW87073;EAW87074;NP_001020423;NP_001020424;NP_005070;P55327 Hs.368433 1335008;1651580;1778524;1779136;1779212;2145372;2150099;2157919;2186190 A006S26;D8S1757;RH78824;SHGC-152811;SHGC-31549;SHGC-36119;SHGC-60140;SHGC-60171;STS-AA010860 D52;N8L;PC-1;PrLZ;hD52 OTTHUMP00000226985;OTTHUMP00000227030;OTTHUMP00000227031;OTTHUMP00000227032;OTTHUMP00000227115;prostate and colon associated protein;prostate leucine zipper;protein N8;tumor protein D52 protein-coding ENSG00000076554 12005 04963 604068 VALIDATED 3476539 TPI1P3 triosephosphate isomerase 1 pseudogene 3 6 6 6 q22.1 117102365 117103578 + 116466612 116467686 + 116359894 116361107 + 16344560 728402 ABBA01026047;AL357141;AMYH01016616;DB021992;NR_027338 Hs.729953 1677788 RH67005 pseudo 38070 PROVISIONAL 4109586 TPI1P4 triosephosphate isomerase 1 pseudogene 4 4 4 4 p11 49466702 49467613 - 48713167 48713928 - 49018285 49019196 - 9847074 728629 ABBA01014355;AC020593;AMYH01014163;NG_011550 pseudo 38071 INFERRED 1323455 TPGS1 tubulin polyglutamylase complex subunit 1 19 19 19 p13.3 297964 310121 - 458497 470654 + 507497 519654 + 6480464 16341674;15489334;14702039;12972506;12477932;11441184;21139048;21890473 91978 Q6ZTW0 ABBA01002566;ABBA01002567;ABBA01002568;AC005775;AC011531;AK126170;AMYH01009187;AMYH01009188;AMYH01009189;BC009520;BM846833;CH471242;NM_033513 AAH09520;AAI48688;AAI52802;BAC86469;EAW61192;EAW61193;NP_277048;Q6ZTW0 Hs.369613 C19orf20;GTRGEO22;PGs1 gene trap ROSA b-geo 22;tubulin polyglutamylase complex subunit 1 APPROVED protein-coding ENSG00000141933 25058 12701 VALIDATED 1352243 TPD52L2 tumor protein D52-like 2 This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011] 20 20 20 q13.2-q13.3 59180773 59206754 + 61967034 61993335 + 62496581 62522898 + 1302805;1580863;6480464 9484778 12963375;16631610;17081983;16620967;16344560;16112108;15489334;14702039;12477932;11780052;11549320;9838088;8812487;8125298;16341674;22939629;18698023;15342556;22863883;20972266;21139048;21890473;21906983;22053931 7165 Q68E05;Q6FGS1;Q9H3Z6 AB062396;ABBA01021428;ABBA01021429;AF004429;AF004430;AK055068;AK125709;AK128744;AK223031;AK293349;AK297064;AK298366;AK314501;AL118506;AMYH01012094;AU124850;AY323819;BC006804;BI667351;BI754201;BM473873;BM833522;BP347669;BQ948007;BT019631;CH471077;CR542036;CR749208;DA547106;DA689198;DA871584;DC362382;DC428780;NG_029863;NM_001243891;NM_001243892;NM_001243894;NM_001243895;NM_003288;NM_199359;NM_199360;NM_199361;NM_199362;NM_199363;NR_045090 AAC98477;AAC98478;AAH06804;AAQ95044;AAV38437;ABM82047;ABM85226;BAB93483;BAD96751;BAG37101;BAG51460;BAG56865;BAG59585;BAG60608;CAG46833;CAH18065;EAW75194;EAW75195;EAW75196;EAW75197;EAW75198;EAW75199;EAW75200;EAW75201;NP_001230820;NP_001230821;NP_001230823;NP_001230824;NP_003279;NP_955391;NP_955392;NP_955393;NP_955394;NP_955395;O43399 Hs.473296 1676784;1691188 RH74935;RH91387 D54;DKFZp686A1765;hD54 HCCR-binding protein 2;OTTHUMP00000031612;OTTHUMP00000031613;OTTHUMP00000031614;OTTHUMP00000031615;OTTHUMP00000031616;OTTHUMP00000031617;tumor protein D54 APPROVED protein-coding ENSG00000101150 12007 11947 603747 REVIEWED 736716 TPH2 tryptophan hydroxylase 2 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Jul 2008] 12 12 q21.1 70618893 70712488 + 72332626 72426221 + 633509;1580863;5686352;5686356;5686360;6480464;5686358;5686361;6907045;7240710 12511643;17675372;17123728;15768392;16240163;16958027 21418060;22361444;18347598;18339632;18314252;18293859;18270970;18234415;18213624;18181017;18180764;18180753;18163388;17986837;17973628;17972101;17905754;17892388;17768266;17692928;17604842;17592484;17568567;17539919;17453063;17413454;17408646;17346350;17335389;17251907;17221847;17217922;17192895;17176492;17176491;17167340;17123708;17015812;17011525;16936760;16894395;16864580;16806105;16801378;16759340;16610957;16610949;16581035;16436194;16401665;16395128;16245070;16116490;19590397;19588223;19548263;19506906;19445671;19434366;19365399;19361870;19356604;19352219;19352218;19344641;19328558;19319927;19272410;19233335;19184136;19181488;19175813;19170664;19162119;19156168;19132526;19125211;19125159;19077664;19071164;19058789;19052197;19032968;19032713;18937842;18832011;18826444;18821565;18801407;18797398;18782386;18496129;18436425;18427560;18405071;18387780;16044172;15968084;15940290;15840421;15629698;15476687;15263906;15197398;15167691;15124006;15052272;14702039;14563478;12477932;22342331;19913121;20623453;20628086;20628266;20633049;20738857;20740293;21182896;20938755;20946355;21049304;21073637;21085052;20921119;17649681;19674121;19679166;19693267;19734157;19742166;19748542;19763617;19781560;19800079;19816759;19829168;19874574;19894072;20043001;20052688;20064585;20124538;20126463;20144688;20213726;20331984;20346360;20379614;20396435;20403506;20446882;20451217;20468064;20470849;20515362;21105877;21198324;20869124;21257271;21747395;22365257;22483952;21396719;21457069;21620479;21873838;21969281;21829912;22072571;21418063;21621273;20856248;21946031;22649797;22721547;22693556;22698518;23300701;22392150;22322887;23467366;22915309;23360517;23032942;22655589;22698779;22491354 121278 Q8IWU9 ABBA01026503;AC090109;AK094614;AMYH01004579;AY098914;BC114442;BC114499;CH471054;NG_008279;NM_173353 AAI14443;AAI14500;AAM28946;BAC04385;EAW97277;EAW97278;EAW97279;NP_775489;Q8IWU9 Hs.736576 1770916 D12S1318 ADHD7;FLJ37295;MGC138871;MGC138872;NTPH OTTHUMP00000241772;neuronal tryptophan hydroxylase;tryptophan 5-hydroxylase 2;tryptophan 5-monooxygenase 2 APPROVED protein-coding ENSG00000139287 20692 09594 607478;608516;613003 REVIEWED 735482 TPH1 tryptophan hydroxylase 1 This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009] 11 11 p15.3-p14 17999114 18018885 - 18042084 18062335 - 1580457;1580458;1580459;1580460;1580461;1580462;1580463;1580464;1580465;1580466;1580467;1580468;1580469;1580863;6480464;5686347;5686352;5686357;5686349;5686354;5686344;5686348;5686345;6907045 16389593;11496362;16165107;16314762;15635702;15799788;15722951;15654285;15544576;15211625;15182943;12915291;16538180;18794762;17675372;16495936;21308753;17134762;21518801;21192222;20921119 19649213;19590397;18270970;18221792;18181017;18177948;17986837;17884826;17870198;17768266;17548152;17521439;17509016;17406648;17221847;17203304;17194593;17116352;17066254;17026953;16958027;16848783;16822601;16806099;18366104;18332644;16806098;16741719;16716203;16682118;16467214;16450114;16389591;16319504;16302021;16257348;16109589;15925123;15808291;15727508;15670397;19506906;19500158;19474754;19455600;19445671;19381154;19367581;19365399;19339052;19241972;19233335;19220488;19181488;19095219;19086053;19077664;19052197;19032968;19032713;18982004;18977032;18937498;18826425;18813430;18562131;18506706;18502553;18405071;19526457;18405062;18402117;15627807;15489334;15475734;15274037;15242065;15241435;15168220;15135070;15052272;14998306;14706424;14698468;14681922;14583797;14559114;14504413;12960746;12877392;12860364;12502014;12477932;12476329;12406341;12399958;12379098;12354289;12208565;12116193;12116191;12039872;11992558;11772685;11747434;11597824;11578639;11576585;11526473;11496367;11472792;11449402;11444684;11426508;11343864;11343598;11326294;11324941;11274651;11150890;11140838;11121198;10525150;10421874;10217286;9751214;9109552;7986090;7876115;2889273;2377472;2055111;1463016;8101440;7499362;18583979;19734157;19744316;19816759;19874574;19874868;19939457;19961731;20010449;20022223;20043001;20046373;20046510;20144688;20198979;20213726;20346360;20396435;20421849;20468064;20734064;20945066;21073637;19913121;20580984;20628086;20628266;21601290;21832049;22483952;21836641;22053918;22697203;22323131;21989108;22429480;23177301;23328530;22781862 7166 E7EMX4;E9PR49;P17752 ABBA01061060;AC055860;AF057280;AMYH01003417;AMYH01003418;AY196344;AY196345;AY196346;BC106739;BC106740;BM451912;BP423529;CH471064;EU796629;EU796634;EU796639;EU796644;EU796649;EU796654;EU796659;EU796664;EU796669;EU796674;NG_011947;NM_004179;X52836;X83213 AAC69458;AAC69459;AAI06740;AAI06741;AAO72074;AAO72075;AAO72076;ACE96108;ACE96113;ACE96118;ACE96123;ACE96128;ACE96133;ACE96138;ACE96143;ACE96148;ACE96153;CAA37018;EAW68420;EAW68421;EAW68422;NP_004170;P17752 Hs.591999 1664419;1742551 GDB:197867;TPH MGC119994;TPRH;TRPH L-tryptophan hydroxylase;OTTHUMP00000232851;indoleacetic acid-5-hydroxylase;tryptophan 5-hydroxylase 1;tryptophan 5-monooxygenase 1;tryptophan hydroxylase;tryptophan hydroxylase (tryptophan 5-monooxygenase) APPROVED protein-coding 12008 01846 191060 REVIEWED 1345461 TPM3P1 tropomyosin 3 pseudogene 1 7 7 7 q31.3 111419020 111421161 - 116398087 116400369 - 116610951 116613034 - 12853948;12213198;3024106 252956 AACC02000001;ABBA01057803;AC106873;AF458661;AMYH01017885;CH236947;NG_005722 1803806;1805164;1988674;1988676;1988678;1988680;1988682;1988684;1988686;1988688;1988690;1988692;1988694;1988696;1988698;1988700;2057734;2093890;2093892 ECD02812;ECD03525;REN100041;REN65239;REN65240;REN65241;REN65242;REN65243;REN65244;REN65245;REN65246;REN65248;REN65250;REN65251;REN65252;REN65253;REN65254;stSG598308;stSG598309 TPM3L2 APPROVED pseudo 16350 INFERRED 1345455 TPM3P2 tropomyosin 3 pseudogene 2 20 20 20 q11.22 29211108 29253944 - 31963690 31964923 - 32458381 32501202 - 23362303 170555 ABBA01019216;AL034549;AMYH01011861;NG_001060 1337612;2180428 D20S878;Z94326 TPM5P;dJ1125A11.2 APPROVED pseudo 16556 INFERRED 4145591 TPM3P4 tropomyosin 3 pseudogene 4 7 7 7 p15.2 27052210 27055021 + 27029822 27032646 + 27063289 27066099 + 3024106;22939629 402643 A6NL28 AACC02000007;ABBA01056755;AC004079;AMYH01017130;CH236948;NG_005723 A6NL28;EAL24230 1817800;1826780;1827402;1827404;1830672;1833686;2057708;2057710;2057712;2057714;2057716;2057718;2057720;2057722;2057724;2057726;2057728;2057730;2057732;2057734;2057736;2057738;2057740;2057742;2057744;2057746;2192004;2192006;2192008;2192010 ECD09954;ECD14505;ECD14817;ECD14818;ECD16472;ECD17988;REN100027;REN100028;REN100029;REN100030;REN100031;REN100032;REN100033;REN100034;REN100035;REN100036;REN100037;REN100038;REN100039;REN100041;REN100042;REN100043;REN100044;REN100045;REN100047;REN100048;stSG609252;stSG609253;stSG609254;stSG609255 pseudo 39167 INFERRED 4145590 TPM3P5 tropomyosin 3 pseudogene 5 19 19 19 q13.2 38811831 38813951 + 46703724 46706037 + 42011984 42014104 + 3024106 644330 ABBA01040810;AC005795;AMYH01009820;NG_005726 1805164 ECD03525 pseudo 39168 INFERRED 4145413 TPM3P6 tropomyosin 3 pseudogene 6 19 19 19 q13.42 51023982 51025065 + 58674248 58675531 + 53982536 53983619 + 3024106 653758 ABBA01068214;AC022137;AMYH01009960;NG_005727 1803806 ECD02812 pseudo 39169 INFERRED 4145475 TPM3P7 tropomyosin 3 pseudogene 7 2 2 2 p24.1 25871885 25873924 - 25884962 25887200 - 26031557 26033596 - 3024106 751599 ABBA01045155;AC064847;AMYH01010184;NG_005721 pseudo 39170 INFERRED 4145504 TPM3P8 tropomyosin 3 pseudogene 8 2 2 2 q37.1 225212972 225215033 - 231144754 231147011 - 231436610 231438671 - 3024106 646839 ABBA01050125;AC010149;AC098823;AMYH01011550;NG_005720 pseudo 39171 INFERRED 3005500 TPI1P2 triosephosphate isomerase 1 pseudogene 2 7 7 7 q32.1 123491770 123493786 + 128482513 128484529 + 128695277 128697293 + 6480464 12477932;12690205;14702039;4022011;20677014;15489334 286016 AA905085;AACC02000035;ABBA01057646;AC018639;AK094894;AMYH01017927;BC053624;CH236950;CH471070;NG_023428;NR_002187 BAG52948;EAL24104;EAL24105;EAW83711 Hs.369665 pseudo 38069 VALIDATED 737023 TPI1 triosephosphate isomerase 1 This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] 12 12 p13 6846967 6850253 + 6976584 6980110 + 1599584;1300048;6480464;6907045;7240710 9338582 20471030;7821789;21145461;21319273;8571957;8503454;8125298;8061610;4022011;2925688;2243103;1602151;1339398;858628;16169070;6434534;2876430;2579079;19405953;18792062;18562316;18510744;18309519;17081983;17064784;17015754;17008404;16916647;16807684;16582619;16086671;15952740;15489334;15358119;15146421;14743370;12477932;12359716;12051920;12023819;11698297;10677844;10655478;10575546;9850739;9150948;9150946;9074930;8723724;8609635;20374271;15161933;21081666;21698479;17183658;20233700;20029029;22623148;16196087;20546019;21832049;22939629;21800051;21215915;21139048;21565611;21890473;22304920;22810585;23000965;20849852;21900206;21906983;21963094;21987572;22079093;22536838;21651995;21044950;22990118;23233058;22053931;22505724;22797925 7167 P60174;Q53HE2 ABBA01017662;AK129488;AK222638;AK298809;AK300661;AK313282;AMYH01004209;AW250466;BC007086;BC007812;BC009329;BC011611;BC015100;BC017165;BC017917;BC018899;BC070129;CH471116;CR541702;D28460;DB444195;HB933985;HB949917;HB963720;HC991394;HD007327;HD021130;J04603;M10036;NG_011948;NM_000365;NM_001159287;NM_001258026;U47924;X69723 AAB51316;AAB59511;AAH07086;AAH07812;AAH09329;AAH11611;AAH15100;AAH17165;AAH17917;AAH70129;AAN86636;ABM84175;ABM87577;BAA05826;BAD96358;BAG36090;BAG62347;BAH12874;CAA49379;CAG46503;CBG01859;CBG09649;CBG16464;CBV15379;CBV23171;CBV29910;EAW88721;EAW88722;EAW88723;NP_000356;NP_001152759;NP_001244955;P60174 Hs.524219 1677788;1742891;1743993;1776040;2113994;2126821;2141171;2180598;2218870;5092778 D1S3365;G32324;GDB:214819;GDB:384743;RH67005;RH78311;SHGC-32489;STS-M10036;TPI1;USP5__5052 MGC88108;TIM;TPI OTTHUMP00000165244;TIM;triose-phosphate isomerase;triosephosphate isomerase APPROVED protein-coding ENSG00000111669 12009 01833 190450 REVIEWED 7241988 TPM4P1 tropomyosin 4 pseudogene 1 644566 ABBA01063230;AL138921;AMYH01002997;NG_022157 pseudo 45234 INFERRED 1348190 TPK1 thiamin pyrophosphokinase 1 This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 q34-q35 143779967 144164079 - 144149034 144533146 - 1580863;6480464;6907045 17295612;16344560;16262001;16087053;15664409;15489334;14702039;12953792;12690205;12477932;11342117;11342111;10567383;9847074;6303095;3896163;1332781;20379614;3060175;18029348;22152682 27010 F5GZG6;F8VPB3;F8VRJ6;F8VVJ1;F8WCM7;I6L9B8;Q6ZQX6;Q9H3S4 AACC02000041;AB028138;ABBA01033544;ABBA01033545;AC004534;AC004743;AC004833;AC004864;AC005677;AC074384;AF297710;AK021810;AK026374;AK091736;AK128661;AK130640;AK289652;AK308693;AMYH01018088;AMYH01018089;AMYH01018090;AMYH01018091;AY206415;BC014552;BC040555;BC068460;BI770816;BX446289;CH471146;CR749248;DA135998;NG_032112;NM_001042482;NM_022445 AAH40555;AAH68460;AAK01351;AAO38775;AAS00370;BAB15465;BAB20326;BAC87556;BAF82341;BAG52408;CAH18104;EAL24415;EAW80091;EAW80092;NP_001035947;NP_071890;Q9H3S4 Hs.660232 1340668;1691798;1699428;1707782;1718985;1720163;1851863;1856916;2115938;2157023;2168406;2168876;5014740;5037552;7186923 D17S610;D7S1925;D7S498;D8S2279;G42257;GDB:1317190;GDB:1317558;GDB:1317624;RH103305;RH123201;RH123992;RH65851;SHGC-52409;SHGC-82112 HTPK1;PP20;THMD5 OTTHUMP00000202345;OTTHUMP00000202346;OTTHUMP00000241315;placental protein 20;thiamin pyrophosphokinase 1;thiamine diphosphokinase;thiamine kinase APPROVED protein-coding ENSG00000196511 17358 06967 606370;614458 REVIEWED 1606372 TPMTP1 thiopurine S-methyltransferase pseudogene 1 18 18 18 q21.1 42005760 42007521 + 43410387 43412159 + 45156386 45158162 + 7628307 400650 ABBA01018623;AC037473;AMYH01008975;CH471096;NG_004077;U11424 AAC50129;EAW62913 1684319;1688883;1744499 GDB:511235;RH70558;RH79116 pseudo 17490 INFERRED 7174901 TPMTP2 thiopurine S-methyltransferase pseudogene 2 3 42187141 42187863 - 100420393 ABBA01024771;AC093414;AMYH01013111;NG_025569 pseudo 44565 INFERRED 7174762 TPMTP3 thiopurine S-methyltransferase pseudogene 3 X p11.22 51722319 51723108 - 100129277 ABBA01059945;AC239585;AL929410;AMYH01022344;NG_022601 pseudo 44566 INFERRED 7174764 TPMTP4 thiopurine S-methyltransferase pseudogene 4 X q21.2 85383898 85384592 - 100129298 ABBA01051748;AL035451;AMYH01022665;NG_022616 pseudo 44567 INFERRED 1605428 TPM2 tropomyosin 2 (beta) This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] 9 9 p13 35671990 35680053 - 35681990 35690053 - 6480464;6907045;7240710 17194691;7606936;19345583;19155175;19142688;19047562;18422639;17846275;17434307;17430991;17339586;15897890;15489334;15208309;15164053;12592607;12477932;11840567;11738357;10359609;9108196;9092943;9016781;8557685;8125298;8120097;7977374;7568216;7196531;3865200;3857586;3368322;2303454;2059197;1631061;1304342;8424456;1516138;14627618;16094730;18246790;19214762;20381070;20301436;20457903;20336778;19913121;20628086;22266860;22863883;22939629;22980765;23015096;21890473;21906983;21963094;22178446;22084935;20301465;15231748;23378224;23413262;22749895;22832343;22519952;22798622;20856200;20876399 7169 P07951;Q5TCU3;Q5TCU8 AA394062;ABBA01064988;AF209746;AI360640;AI660199;AJ572605;AK130045;AK223258;AK294522;AK300249;AK304803;AL133410;AMYH01019347;BC011776;CH471071;EU106177;J05247;M12125;M12126;M74817;M75165;NG_011620;NM_003289;NM_213674;X06825 AAA36773;AAA51842;AAA61229;AAA61230;AAB59509;AAF17621;AAH11776;ABM83834;ABM87158;ABU62930;BAD96978;BAG57733;BAG62015;BAG65553;CAA29971;EAW58354;EAW58355;NP_003280;NP_998839;P07951 Hs.300772 1735850;1735882;2157658;2218108 D9S1002E;D9S1954;D9S984E;TPM2_2772 AMCD1;DA1;DA2B;NEM4;TMSB OTTHUMP00000021356;OTTHUMP00000021357;OTTHUMP00000021358;OTTHUMP00000021359;beta-tropomyosin;nemaline myopathy type 4;tropomyosin beta chain;tropomyosin-2 APPROVED protein-coding ENSG00000198467 12011 11768 108120;190990;601680;609285 REVIEWED 1604522 TPM3P9 tropomyosin 3 pseudogene 9 19 19 19 q13.42 50976646 50989348 + 58627053 58639737 + 53935227 53947925 + 14702039;12477932 147804 ABBA01068215;AC022137;AK094777;AMYH01009959;BC047783;BC061910;BX647962;NR_003148 Hs.433293 1803806;2192008 ECD02812;stSG609254 MGC71022 APPROVED pseudo ENSG00000241015 44142 14075 VALIDATED 737098 TPM1 tropomyosin 1 (alpha) This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008] 15 15 q22.1 61121891 61151167 + 63334838 63364114 + 1580447;1580863;6480464;6907045;7240710 15000344 22266860;22447464;7780795;7568216;6822572;6746613;3857586;3611073;3548719;3336357;3138425;2136742;1796905;1631061;278975;1516138;8424456;1991513;2161834;12686598;8205619;11136687;16130169;15897890;17721995;17556658;3336363;11273725;16754800;19293840;19222994;19150014;19035361;18937355;18513529;18403758;18029348;17932326;17895359;17556170;17360712;16260624;16189514;15695827;15489334;15479242;15269838;15146197;15095301;15031138;14870975;14702039;13679858;12974739;12594734;12527301;12477932;12473556;12169652;12065096;11964245;11840567;11563548;11438684;11071908;10343096;9822100;9108196;9092943;9016781;8987992;8886980;8523464;8327508;7916663;7898523;7835079;14627618;19509158;19646950;19678923;19820697;19853701;19875404;20031618;20065163;20075843;20215591;20359594;20379614;20381070;20474083;20029029;22737252;19913121;20628086;22939629;21320446;21376702;21817107;22740512;21295541;21454502;20965760;22863883;22990118;21274714;20618440;2455687;20360068;21741356;17987659;21139048;21906983;22155441;22187526;21551322;22178446;21823217;21949785;20301486;20301725;19322201;21575865;22863734;16289162;23398456;23420843;22462493;23147248;12543979;19805454;22304920;23000965;22139419;20876399;22268729;22789852;22797925;22958892;22965424 7168 B7Z596;D9YZV4;D9YZV5;D9YZV7;F5H7S3;H0YK20;H0YK48;H0YKJ4;H0YKP3;H0YKX5;H0YKZ6;H0YL42;H0YL52;H0YL80;H0YLS7;H0YN06;H0YNC7;H7BYY1;O15513;Q6DV90;Q6ZN40 AB209041;ABBA01038920;AC079328;AF474156;AJ000147;AJ001055;AK055197;AK057989;AK092051;AK092573;AK129882;AK131384;AK298625;AK299387;AK301319;AK309170;AL050179;AMYH01006701;AY640414;AY640415;BC007433;BC050473;BC053545;BG107949;BX458841;CH471082;CN423344;DQ424903;GU324929;GU324930;GU324931;GU324932;GU324933;GU324934;GU324935;L02922;L02923;M19713;M19714;M19715;NG_007557;NM_000366;NM_001018004;NM_001018005;NM_001018006;NM_001018007;NM_001018008;NM_001018020;X12369;Z24727 AAA16888;AAA16889;AAA61225;AAA61226;AAA61227;AAH07433;AAH50473;AAH53545;AAL84569;AAT68294;AAT68295;ABD83668;ABM84185;ABM87587;ACE87812;ACT64515;ADL14500;ADL14501;ADL14502;ADL14503;ADL14504;ADL14505;ADL14506;BAC85248;BAD18535;BAD92278;BAH12832;BAH13023;BAH13458;CAA03930;CAA04505;CAA30930;CAA80853;CAB43309;EAW77619;EAW77620;EAW77621;EAW77622;EAW77623;EAW77624;EAW77625;EAW77626;EAW77627;EAW77628;EAW77629;EAW77630;EAW77631;EAW77632;EAW77633;EAW77634;EAW77635;NP_000357;NP_001018004;NP_001018005;NP_001018006;NP_001018007;NP_001018008;NP_001018020;P09493 Hs.133892;Hs.602995 1650112;1663337;1689406;1774079;1776599;1790311;1857516;2139156;2145223;2175513;2175515;2190787;5014051;5015506;5037552 A006I38;D10S2366;D15S1512;D8S2278;D8S2279;G20856;G30945;RH69090;RH69479;RH92957;SHGC-12376;SHGC-31495;SSC1E07;STS-D29134;TPM1 C15orf13;CMD1Y;CMH3;HTM-alpha;TMSA OTTHUMP00000163688;alpha tropomyosin;alpha-tropomyosin;cardiomyopathy, hypertrophic 3;sarcomeric tropomyosin kappa;tropomyosin 1 (alpha) isoform 1;tropomyosin 1 (alpha) isoform 2;tropomyosin 1 (alpha) isoform 3;tropomyosin 1 (alpha) isoform 4;tropomyosin 1 (alpha) isoform 5;tropomyosin 1 (alpha) isoform 6;tropomyosin 1 (alpha) isoform 7;tropomyosin 1, alpha;tropomyosin alpha-1 chain;tropomyosin-1 APPROVED protein-coding ENSG00000140416 12010 01839 115196;191010;611878 REVIEWED 735786 TPO thyroid peroxidase This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011] 2 2 p25 1396242 1525502 + 1417233 1546499 + 1599648;1580863;1300048;6480464;6907045;7207487;7240710;7207483 7550241;19506389;8393543 3654979;3475693;3453124;3153466;2383265;2308857;1401057;22149743;16614712;16478776;16344560;16284446;15761037;15745925;15613581;15590661;15562032;15561711;15497454;15317218;15203218;15196594;15150267;15062578;14751036;12960013;12938097;12864797;12843174;12820316;12709678;12593722;12501244;12490071;12477932;12459031;12454013;12213873;12135610;11916616;11874711;11415848;11327880;11238503;11061528;10748076;10487692;10468986;10084596;9924196;9814507;9024270;8964831;8196171;8027236;7759120;2548579;19420105;19225535;19194833;19189706;18710471;18657294;18631006;18509003;18314161;18271683;18203013;18041648;18029453;18029348;17902201;17845204;17696828;17547680;17468186;17381485;17334650;17042691;16959834;16868133;16756464;16684826;16682284;20573721;1722671;19243353;19605678;19669106;19730683;19948975;19952225;19960894;20036902;20101889;20237496;20379614;67547;20182447;19799084;20826581;20153806;20529857;20800603;20963560;21707688;22326521;21527831;21490078;17854396;22093430;22259066;22435912;21981063;22947910;22387573 7173 C9J511;C9JFW0;E9PFM6;H0Y6H4;H7BZH8;H7C1F5;H7C5B6;Q502Y3;Q6P534;Q8TCI9 AB208960;ABBA01003646;ABBA01003647;ABBA01003648;AC105450;AC141930;AF439430;AF533528;AF533529;AF533530;AF533531;AK309868;AMYH01010051;AMYH01010052;AMYH01010053;AMYH01010054;AMYH01010055;AMYH01010056;AMYH01010057;AMYH01010058;AMYH01010059;AMYH01010060;AMYH01010061;AW874082;AY136822;BC063107;BC095448;BE046044;CB986756;CD608890;CH471053;DA958481;J02969;J02970;M17755;M25715;M55702;NG_011581;NM_000547;NM_001206744;NM_001206745;NM_175719;NM_175721;NM_175722;S46244;X17358;Y00406 AAA61215;AAA61216;AAA61217;AAA61218;AAA61219;AAA97517;AAB23676;AAH63107;AAH95448;AAL74416;AAN04471;AAN04472;AAN04473;AAN04474;AAN11302;AAX82037;AAX93261;BAD92197;CAA35235;CAA68467;EAX01087;EAX01088;EAX01089;EAX01090;EAX01091;NP_000538;NP_001193673;NP_001193674;NP_783650;NP_783652;NP_783653;P07202 Hs.467554 1655644;1741313;1741509;1742433;1742479;2116530;2168048;2173112;2189769 D2S1515E;D8S2035;GDB:180406;GDB:181259;GDB:196336;GDB:196990;GDB:197520;RH48044;TPOX MSA;TDH2A;TPX OTTHUMP00000115303;OTTHUMP00000115304;OTTHUMP00000115535;OTTHUMP00000115536;thyroid microsomal antigen;thyroid peroxidase;thyroperoxidase APPROVED protein-coding ENSG00000115705 12015 06000 187950;274500;606765 REVIEWED 1350168 TPMT thiopurine S-methyltransferase This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on chromosome 18q. [provided by RefSeq, Jul 2008] 6 6 p22.3 18236521 18263353 - 18128542 18155374 - 1580863;6480464;7240710 17617792;16459728;12777968;20349237;22318545;22594254;22304581;8316220;19650826;19579612;19546880;19543639;19535798;19474452;19473575;19343046;19252404;19239109;19229528;19214663;19177822;19164342;19057372;19048245;19048244;19034904;18987660;18987654;18827410;18823306;18775689;18708949;18693152;18616518;18605963;18602085;18600549;18484748;18482735;18467186;18408566;18385010;18303966;18193212;18188716;18021342;17919375;17909762;17885628;17690215;22616585;17323057;17243178;17241387;17220558;17206640;17176368;17164697;17152495;17129980;17113562;17065060;16952345;16946561;16917910;16876902;16789994;16773681;16724002;16691038;16643135;16611274;16595084;16476125;16431304;16418693;16396707;16306100;16272700;16214825;16202677;16166171;16164497;16044099;16006997;15973722;15967990;15946151;15931768;15819814;15802809;15792824;15784872;15709212;15691505;15571267;15571264;15489334;15476481;15385838;15349717;15255798;15247157;15226673;15226671;15206995;15167635;15022030;14987117;14985891;14985890;14723818;14656901;14634700;14576848;14574404;14508387;12972954;12949626;12940924;12903038;12880540;12815366;12814450;12563179;12542916;12509611;12492733;12477932;12217596;12176518;12172211;12142782;11927834;11927101;11503013;11422006;11025471;11007234;10751626;10208641;12732844;12703994;9931346;9931345;9711875;9453052;9336428;9246020;9177237;9103127;8873214;8644731;8561894;8392551;7862671;7628307;20027160;19675376;19682085;19682195;19695401;19748501;19774638;19830600;19891552;19898482;19956635;20017316;20037211;20066544;20081263;20136357;20136364;20153897;20173083;20175804;20175817;20308917;20350137;20393862;20403997;20408054;20521035;21348397;17207965;23126166;19913121;20593505;20628086;20881512;20945351;20972624;23400745;23844534;21832049;21254844;21819368;21890473;22972540;22225964;21938428;22385887;22486532;22931646;22846425;23377985;23014567;23398787;23192017;23252704;23065291;22747506 7172 O43213;Q9BS45 AA746081;AA825975;AB045146;ABBA01022233;AF019364;AF019365;AF019366;AF019367;AF019368;AF019369;AF021876;AF021877;AF035426;AK310420;AL589723;AMYH01016122;BC005339;BC009596;BI598325;CH471087;NG_012137;NM_000367;S62904;U12387;U30518;U81562;U81563;U81564;U81565;U81566;U81567;U81568;U81569;U81570;U81571;U81572;U81573 AAB27277;AAB71625;AAB71626;AAB71627;AAB71628;AAB71629;AAB71630;AAB71631;AAB71632;AAB71633;AAB71634;AAB71635;AAB71636;AAB80746;AAB80747;AAC32289;AAC50130;AAC50368;AAC51865;AAH05339;AAH09596;ADQ33207;BAA97037;EAW55393;EAW55394;EAW55395;EAW55396;EAW55397;EAW55398;EAW55399;NP_000358;P51580 Hs.444319 1678201;1684319;1688883;1698452;1744499;5024039;5037552;5117318 D16S325;D8S2279;GDB:462456;GDB:511235;RH102775;RH70558;RH79116;RH80825 OTTHUMP00000016076;S-adenosyl-L-methionine:thiopurine S-methyltransferase;thiopurine S-methyltransferase APPROVED protein-coding ENSG00000137364 12014 01760 187680;610460 REVIEWED 1605427 TPM3 tropomyosin 3 This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 q21.2 152394404 152431233 - 154127780 154164609 - 6480464;6907045;7240710 20951040;17081983;2455687;8424456;17353931;16130169;3418707;3018581;19487656;19405953;18699990;18382475;18300303;18029348;17376686;15302935;14702039;12805274;12665801;12477932;12467750;12196661;12176375;12163017;12105844;11106625;10871039;10807789;10619715;10587521;10216106;9108196;9092943;8889548;8886980;8293480;8167032;8120097;8002995;7956350;7704029;7663526;7590742;3865200;3024106;2869410;2538716;16916647;16838028;16710414;16344560;16297372;16236267;16189514;15953552;15888546;15822942;15527767;15489334;2161834;1829807;1796905;1286667;1516138;7568216;16236705;14627618;19953533;20012312;20223922;20356415;20381070;20308539;20179953;21145461;21319273;21036167;21072821;22939629;22740512;22863883;22990118;23752268;20301436;18781797;21139048;21890473;21900206;21906983;21963094;22178446;22145905;22158085;19322201;20301465;22266860;16263121;19738201;21988832;22053931;22792281;23000965;23398456;1649007;1653650;1850549;1850821;22327623;2594368;3472772;3477801;22798622;20876399;22505724 7170 D6R904;D6RFM2;D6RGJ6;J3KN67;Q5VU58;Q5VU59;Q5VU61;Q5VU63;Q9NQH8 AA429717;AA863064;AB062125;ABBA01049475;AF474157;AJ573307;AK026559;AK056889;AK056921;AK056997;AK092690;AK092712;AK123113;AK123571;AK125367;AK298678;AK301674;AK308007;AK315504;AL537561;AL590431;AMYH01001411;AMYH01001412;AMYH01001413;AY004867;AY271223;BC000771;BC008407;BC008425;BC015403;BC017195;BC050470;BC062740;BC072428;BC073144;BF967161;BG706843;BI546300;BM674269;BM674651;BQ933569;BU956481;BX419658;BX641075;BX648485;CH471121;CR997359;DA209890;DA472065;DA894064;DA900740;M12128;NG_008621;NM_001043351;NM_001043352;NM_001043353;NM_001278188;NM_001278189;NM_001278190;NM_001278191;NM_152263;NM_153649;NR_103460;NR_103461;X04201;X04588;X79909;X79910 AAA36775;AAF87083;AAH00771;AAH08407;AAH08425;AAH15403;AAH62740;AAH72428;AAL84570;BAB93457;BAC03946;BAC03956;BAG37888;BAG51839;BAG60842;BAG63147;CAA27798;CAB37185;CAI46046;EAW53229;EAW53230;EAW53231;EAW53232;EAW53233;EAW53234;EAW53235;EAW53236;EAW53237;NP_001036816;NP_001036817;NP_001036818;NP_001265117;NP_001265118;NP_001265119;NP_001265120;NP_689476;NP_705935;P06753 Hs.535581;Hs.578978;Hs.644306;Hs.654421 1654042;1679329;1712559;1744597;1744599;1764783;1796994;1848183;2057728;2123092;2137090;5014051;5015619;5016596;5016851;5020740;5020885;5022578;5024290;5024413;5024770;5037552;5095942;5109281;5115539;5118718;5121991;5122085 D11S3114;D11S3590;D15S1278;D1S1423;D1S1425;D8S2278;D8S2279;ECD21592;G15887;GDB:545460;GDB:545462;GDB:631802;L17791;L17809;L17877;REN100037;REN65247;REN65249;RH41815;RH41905;RH47717;RH64675;RH70810;RH80031;SHGC-148353;TPM3_1292;U04541;stSG598307 CAPM1;CFTD;FLJ41118;MGC14582;MGC3261;MGC72094;NEM1;OK/SW-cl.5;TM-5;TM3;TM30;TM30nm;TM5;TPMsk3;TRK;hTM5;hscp30 OTTHUMP00000034016;OTTHUMP00000034018;OTTHUMP00000034019;OTTHUMP00000034020;OTTHUMP00000034021;OTTHUMP00000034171;OTTHUMP00000034172;OTTHUMP00000034173;OTTHUMP00000218067;OTTHUMP00000218071;alpha-tropomyosin, slow skeletal;cytoskeletal tropomyosin TM30;gamma-tropomyosin;hTM5;heat-stable cytoskeletal protein 30 kDa;tropomyosin alpha-3 chain;tropomyosin gamma;tropomyosin-3;tropomyosin-5 APPROVED protein-coding ENSG00000143549 12012 01840 191030;255310;609284 REVIEWED 736665 TPM4 tropomyosin 4 This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009] 19 19 p13.1 16048325 16074408 + 16178317 16213813 + 6480464;6907045 8641132;16130169;17968984;16344560;15489334;15456888;14702039;12665801;12477932;11782456;11493472;10934142;3865200;3612796;1286667;16236705;14627618;16551573;1836432;20381070;20936779;21119665;22863883;22939629;21373848;22423221;18781797;21139048;21890473;21906983;17620599;22266860;21319273;22139419;22537621;20856200;22505724 7171 K7ELJ3;K7ELP0;K7EMU5;K7ENT6;K7EP68;K7EPB9;K7EPV9;K7EQW8;K7ERG3;Q9UCS3 ABBA01051127;ABBA01051128;ABBA01051129;ABBA01051130;AC008894;AF186109;AK023385;AK300136;AK301285;AK307538;AK315076;AMYH01009558;BC002827;BC037576;BC067225;BT019634;CH471106;DA032511;DC365500;M12127;NG_015841;NM_001145160;NM_003290;X05276 AAA36774;AAG17014;AAH02827;AAH37576;AAH67225;AAV38440;BAB14554;BAG37545;BAG61923;BAG62844;CAA28888;EAW84521;EAW84522;EAW84523;EAW84524;NP_001138632;NP_003281;P67936 Hs.631618 1341776;2154740;5113365 D19S885;RH98289;TM4 TM30p1;tropomyosin alpha-4 chain;tropomyosin-4 APPROVED protein-coding ENSG00000167460 12013 11734 600317 REVIEWED 1603717 TPP1 tripeptidyl peptidase I This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008] 11 11 p15 6590573 6597268 - 6633997 6640692 - 6480464;7240710 9295267;12134079;10965052;11054422;10617131;10679303;14609438;8215436;9989590;15158442;10740217;15317752;19201763;19038967;19038966;18552385;18411270;17959406;17690061;17081065;16518810;16168594;16091586;15733845;15582991;15489334;15342556;15143070;14736728;14702339;12975309;12950156;12754519;12698559;12643545;12488460;12477932;12414822;12376936;12125808;11462245;11339651;11241479;10737126;10477428;10330339;9989235;9653647;8125298;23266810;20672930;17237767;19246452;19748052;20689811;20340139;17500595;22939629;21461822;22989886;21829167;21139048;21784683;22016395;20301601;23587805;23509301;21833529 1200 E7EV34;E9PME9;E9PPA4;O14773 ABBA01028670;AC091564;AF017456;AF039704;AI023962;AK222499;AK222538;AK293518;AK293741;AK295801;AK299703;AK300998;AK303323;AK312388;AMYH01003367;AY268890;AY358502;BC014863;BP279860;BP287220;CH471064;CQ834690;NG_008653;NM_000391 AAB80725;AAC98480;AAH14863;AAQ72732;AAQ88866;ABM82608;ABM85793;BAD96219;BAD96258;BAG35305;BAG57000;BAG57164;BAG58620;BAG61604;BAG62617;BAG64389;CAH05560;EAW68685;EAW68686;NP_000382;O14773 Hs.523454 1737147;1775056;1793068;1850592 D11S3007;PMC193924P6;RH36325;WI-11808 CLN2;GIG1;LPIC;MGC21297;TPP-1 OTTHUMP00000164588;TPP-1;cell growth-inhibiting gene 1 protein;ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease);growth-inhibiting protein 1;lysosomal pepstatin insensitive protease;lysosomal pepstatin-insensitive protease;tripeptidyl aminopeptidase;tripeptidyl-peptidase 1;tripeptidyl-peptidase I APPROVED protein-coding ENSG00000166340 2073 06415 204500;607998 REVIEWED 1343731 TPPP2 tubulin polymerization-promoting protein family member 2 14 14 14 q11.2 1359208 1361197 + 20568296 20570167 + 21498345 21500334 + 6480464 18029348;17105200;15590652;15489334;12477932 122664 D6R9S2;D6RIC1;H0Y8L2;H0YEZ3;H0YJP6;P59282 ABBA01061239;AL161668;AMYH01005593;AW135537;AY072034;AY173946;BC027610;BC038970;BC064583;CH471078;DB458250;NM_173846 AAH38970;AAL62338;AAO49716;EAW66421;NP_776245;P59282 Hs.406966 1681036 RH92395 C14orf8;P18;p25beta OTTHUMP00000028309;OTTHUMP00000231917;OTTHUMP00000245037;TPPP/p18;brain-specific protein p25-like;protein p25-beta;tubulin polymerization-promoting protein family member 2 protein-coding ENSG00000179636 19293 12657 VALIDATED 6481318 TPRG1-AS1 TPRG1 antisense RNA 1 100874043 AC009319 APPROVED miscrna 42391 6481368 TPRG1-AS2 TPRG1 antisense RNA 2 3 188956475 188958383 - 11329013 100874027 ABBA01058347;AC104669;AMYH01013754;BG213396;NR_046722 Hs.616080 APPROVED miscrna ENSG00000230115 41062 PREDICTED 1354338 TPRA1 transmembrane protein, adipocyte asscociated 1 3 3 3 q21.2 125718390 125736050 - 128774606 128781970 - 127291908 127309568 - 737633;1580863;6480464 12477932 10342878;16806233;15489334;14702039;9776767;21832049;21890473;8889548 131601 C9J5C7;C9JU06;C9JVW5;C9JZ00;F8WC44;Q86W33 AB037108;ABBA01020880;ABBA01020881;AC084035;AF289568;AI248453;AK056759;AMYH01013455;BC017058;BC050711;BG168441;BI823558;BM665705;CD580484;CH471052;HY066741;HY105099;NM_001136053;NM_001142646;NM_016372;NR_073377 AAH17058;AAH50711;AAL55752;BAA89782;EAW79340;EAW79341;EAW79342;EAW79343;EAW79344;NP_001129525;NP_001136118;NP_057456;Q86W33 Hs.6418 1658967;1686770;1858407 D3S3820;RH98767;SHGC-77322 FLJ32197;GPR175;TMEM227;TPRA40 G protein-coupled receptor 175;OTTHUMP00000216053;OTTHUMP00000216054;OTTHUMP00000216055;OTTHUMP00000216056;OTTHUMP00000216057;OTTHUMP00000216058;OTTHUMP00000216061;OTTHUMP00000216062;integral membrane protein GPR175;seven transmembrane domain orphan receptor;transmembrane domain protein regulated in adipocytes 40 kDa;transmembrane protein 227;transmembrane protein adipocyte-associated 1;transmembrane protein, adipocyte associated 1 protein-coding ENSG00000163870 30413 16318 608336 VALIDATED 1605400 TPPP tubulin polymerization promoting protein 5 5 p15.3 712977 746510 - 659977 693510 - 6480464 15590652;19382230;18728964;18311157;18204489;18028908;18025801;17823288;17693641;17105200;17027006;16879710;15822905;15564385;15489334;14702039;14623963;12477932;12093283;11781156;10083737;8889548;19698783;20308065;20228799;22328514;21565174;20849899;21832049;18029348;21616478;21995432;21857997;21900749;22083140;22326478;21988832;23161404;23355470 11076 O94811;Q4L233 AB017016;ABBA01034252;AC026740;AI796918;AK054920;AK098392;AMYH01014833;AMYH01014834;AMYH01014835;AW955330;AY319261;BC040496;BC131506;BC152382;BQ066916;BT020035;BU726600;CH471235;DB478250;DB546894;NM_007030 AAH40496;AAI31507;AAI52383;AAQ96657;AAV38838;BAA36164;BAG51443;EAW51015;EAW51016;NP_008961;O94811 Hs.481466 1651903;1670648 RH44504;WI-16049 TPPP/p25;TPPP1;p24;p25;p25alpha 25 kDa brain-specific protein;OTTHUMP00000161630;brain specific protein p25 alpha;glycogen synthase kinase 3 (GSK3) inhibitor p24;p25-alpha;tubulin polymerization-promoting protein protein-coding ENSG00000171368 24164 18522 608773 VALIDATED 7204809 TPRKBP1 TP53RK binding protein pseudogene 1 10 28919690 28948399 + 101060176 ABBA01034373;AL161936;AMYH01002211;AMYH01002212 pseudo 44943 MODEL 734318 TPP2 tripeptidyl peptidase II This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008] 13 13 q32-q33 102047374 102129522 + 103249286 103331524 + 1580863;6480464 14702039;21771670;9974389;19155470;18286573;17901116;17343995;16849449;16762321;16344560;15716107;15489334;12477932;12370345;10691692;8602240;8406500;8396212;7829101;3313395;1840501;1691635;1670990;19587004;20379614;21134372;21319273;22863883;22986808;22586326;22483107;17370265;21139048;21890473;21906983;22505724;22797925;22266401 7174 P29144;Q5VZU9 ABBA01027071;AK097678;AK127549;AK304313;AL158063;AMYH01005341;AU132468;BC024905;BC039905;BI492495;CH471085;M55169;M73047;NM_003291 AAA36760;AAA63263;AAH39905;BAH14156;EAX09059;NP_003282;P29144 Hs.432424 1337820;1658930;1798290;2169923;2184893;2189977;2189979;2189981 99-25151;99-25153;99-25161;D13S1256;D13S1464;RH17732;SGC32558;TPP2_1638 FLJ40359;TPP-2 OTTHUMP00000018664;OTTHUMP00000018665;TPP-II;tripeptidyl aminopeptidase;tripeptidyl-peptidase 2;tripeptidyl-peptidase II;tripeptidylpeptidase ii APPROVED protein-coding ENSG00000134900 12016 01834 190470 REVIEWED 1604620 TPPP3 tubulin polymerization-promoting protein family member 3 16 16 16 q22.1 51931912 51935621 - 65981213 65984922 - 67423712 67427421 - 6480464 19165527;17105200;15590652;15489334;12477932;12107411;10931946;10810093;19633818;17207965;21139048 51673 Q9BW30 ABBA01025435;AC009061;AF078846;AF132972;AMYH01007746;BC000691;BC037798;BI754230;BI772576;BQ640401;CH471092;NM_015964;NM_016140 AAD27747;AAD44478;AAH00691;ADQ33176;EAW83128;EAW83129;EAW83130;EAW83131;NP_057048;NP_057224;Q9BW30 Hs.534458 2178808 D16S3321 CGI-38;p20;p25gamma OTTHUMP00000174811;OTTHUMP00000174812;TPPP/p20;brain specific protein;tubulin polymerization-promoting protein family member 3 protein-coding ENSG00000159713 24162 16710 VALIDATED 1605470 TPRX1P1 tetra-peptide repeat homeobox 1 pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 10 10 10 q22.3 74544978 74545902 - 80928750 80929874 - 81258844 81259768 - 503628 ABBA01020209;AL133481;AMYH01002860;NG_004836 TPRXP2 APPROVED pseudo 32176 INFERRED 1352518 TPRN taperin This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010] 9 9 9 q34.3 110600193 110608787 - 139205890 139214378 - 140086069 140095163 - 737633;6480464;7240710 12477932 15231748;19603065;20170898;20170899;21382349;21988832;23080069;22321011;23251661 286262 H3BLU1;H7BXP5;Q4KMQ1 ABBA01022747;ABBA01022748;AK074735;AL929554;AMYH01021893;BC023530;BC048807;BC065498;BC071831;BC098411;BC111500;BC128601;BC143385;CH471090;CQ782662;NG_027801;NM_001128228 AAH23530;AAH48807;AAH71831;AAH98411;AAI11501;AAI28602;AAI43386;BAC11169;CAF85906;EAW88364;NP_001121700;Q4KMQ1 Hs.323445 1672089;1852829;5093714 A009V25;G32880;WI-4096 C9orf75;DFNB79;FLJ90254;MGC131933;RP11-350O14.7 OTTHUMP00000022693;OTTHUMP00000022694;taperin APPROVED protein-coding ENSG00000176058 26894 12977 613307;613354 VALIDATED 1605469 TPRX1P2 tetra-peptide repeat homeobox 1 pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq] 10 q22.3 81248737 81249661 - 503629 AC068139;AL133481;NG_004837 TPRXP3 pseudo 32177 1605471 TPRX2P tetra-peptide repeat homeobox 2 pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 19 19 19 q13.32 45169169 45170987 + 53055113 53057220 + 48363439 48365257 + 503627 ABBA01041062;AC008745;AC024582;AMYH01009889;NG_004835 TPRX2P1;TPRXP1 APPROVED pseudo 32175 INFERRED 735970 TPS1 mast cell protease 6 7176 BC028059;BC051852;M30038;NM_003293 Hs.405479 1321699 TPR translocated promoter region, nuclear basket protein This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008] 1 1 q25 184547407 184611080 - 186280784 186344457 - 1580863;6480464;6907045 18981471;7798308;12228227;18663750;17897941;17081983;16964243;15654337;15635413;15302935;15229283;14702039;12802065;12594221;12477932;11952838;11896612;11248057;10708513;9864356;9024684;7851906;3821733;3387099;3277171;1611909;1549355;1532241;1437155;20479123;10601273;12513910;17098863;17643375;20237496;20407419;19394292;18029348;20936779;11514627;11839768;22939629;21613532;16051665;20360068;21811608;19596686;21139048;21693764;21890473;21906983;19471022;22145905;22253824;22586326;21628590;19738201;21282530;22053931;22623428;23000965;23170199;22412018;23402259;23649804;23752268;18794356;22619110;19273613;9828100 7175 P12270;Q5SWX9 AA688415;ABBA01027704;ABBA01027705;AF172081;AF181668;AK023111;AK309473;AL133553;AL596220;AMYH01001562;BC016514;BC025177;BC094764;CH471067;M15326;NG_023284;NM_003292;U69668;X63105;X66397;X94207;X94208;Y00672 AAB48030;AAH16514;AAH25177;AAH94764;AAI56390;CAA44819;CAA47021;CAA63904;CAA68681;EAW91203;EAW91204;EAW91205;EAW91206;NP_003283;P12270 Hs.279640 1658922;1681877;1725665;1749069;5015619;5022200;5037552;5111565 D11S3114;D8S2279;G19412;G31461;G62041;L18426;RH80846;SHGC-110732 NPC-associated intranuclear protein;OTTHUMP00000033584;megator;nuclear pore complex-associated protein TPR;nucleoprotein TPR;translocated promoter region (to activated MET oncogene);translocated promoter region protein;tumor potentiating region APPROVED protein-coding 12017 08927 189940 REVIEWED 1605237 TPRG1 tumor protein p63 regulated 1 3 3 3 q28 187324428 187475904 + 190372457 190523964 + 188889763 189041271 + 6480464 19475631;15489334;14702039;12477932 285386 C9IYC1;C9JDW1;H7C1G4;Q6ZUI0 ABBA01058345;ABBA01058346;ABBA01058347;ABBA01058348;AC104669;AC112909;AK123232;AK125682;AMYH01013753;AMYH01013754;BC101550;BC101552;CR737485;NM_198485 AAI01551;AAI01553;BAC85565;BAC86245;NP_940887;Q6ZUI0 Hs.729544 1339323;1713783;1717331;2118072;5021926 B327YD9;D3S3549;RH120778;RH122156;ha3186 FAM79B;FLJ41238;FLJ43694;MGC126599;MGC126601 OTTHUMP00000209773;OTTHUMP00000209774;family with sequence similarity 79, member B;tumor protein p63-regulated gene 1 protein protein-coding 24759 13451 VALIDATED 1605426 TPSAB1 tryptase alpha/beta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008] 16 16 p13.3 1230679 1232556 + 1290678 1292555 + 6480464 11533057;21493897;17474147;2187193;2677049;19250736;19100407;18854315;18790994;18359288;18079491;17655281;17635650;17449330;17205215;17146627;16517749;16414069;16027150;15638376;15567416;12874242;12742661;12477932;12397176;12391231;12217407;12100045;11906611;11876641;11792624;11568008;11325588;11157797;10898108;10843716;10708866;10708850;10514402;10500112;10391906;9920877;9521329;9485375;9300715;9077541;8675637;8598474;8434231;7730649;7009736;3161948;2203827;19535787;19625657;19697770;19748655;20087660;20718781;21707711;20540319;22102069;23330964;21791437;22363824;22194960;23018683;22613992 7177 J3QTS8;P20231;Q9UQI1 AC120498;AE006466;AF098328;AF099144;AF206665;AF206666;AF206667;AMYH01007031;BC028059;BC038416;BC051852;BC074974;BC074975;CR541836;FJ931118;M30038;M33491;M33494;NM_003294 AAA36778;AAA86934;AAC83172;AAD17846;AAD17860;AAG35695;AAG35696;AAG35697;AAH28059;AAH51852;AAH74974;AAH74975;AAK61271;ACZ98912;CAG46635;NP_003285;Q15661 Hs.405479 1684820;1777575;2170530;2172591;5492743;5494013 RH69115;RH78261;RH78935;RH80805;UniSTS:480727;UniSTS:482183 MGC104064;TPS1;TPS2;TPSB1 OTTHUMP00000115530;OTTHUMP00000213242;mast cell alpha II tryptase;mast cell beta I tryptase;tryptase I;tryptase alpha II;tryptase alpha-1;tryptase alpha/beta-1;tryptase beta 1;tryptase beta I;tryptase beta-1;tryptase-1;tryptase-I;tryptase-III APPROVED protein-coding ENSG00000172236 12019 01848;01849 191080 REVIEWED 1344751 TPSG1 tryptase gamma 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1487545 1491148 - 1211652 1215255 - 1271651 1275254 - 1302295;1580863;6480464 10521469 12217407;12194977;11157797;10843716;20126998 25823 Q9NRR2 ABBA01030324;AC120498;AE006466;AF175759;AF191031;AF195508;AF223563;AMYH01007028;BE552396;CH471112;NM_012467 AAF03697;AAF76457;AAF76458;AAG48852;AAI72313;AAK61269;EAW85682;NP_036599;Q9NRR2 Hs.592076 PRSS31;TMT;trpA OTTHUMP00000115529;gamma I;gamma II;lung tryptase;mast cell protease II;mast cell tryptase;pituitary tryptase;serine protease 31;skin tryptase;transmembrane tryptase;tryptase gamma;tryptase gamma I;tryptase gamma II APPROVED protein-coding ENSG00000116176 14134 07160 609341 REVIEWED 1353104 TPSP1 tryptase pseudogene 1 16 16 16 p13.3 1537998 1540687 - 1263684 1270573 - 1323725 1326396 - 12217407;10843716 100129339 ABBA01030318;AC120498;AMYH01007031;NG_008445 MP-2 pseudo 14182 INFERRED 1604487 TPRX1 tetra-peptide repeat homeobox 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 19 19 19 q13.33 45110194 45112555 - 52996312 52998673 - 48304500 48306861 - 17005330;14702039;12477932 284355 B7ZMM8;D2CFI5;Q8N7U7 ABBA01041057;AC008745;AK097640;AMYH01009889;BC137501;BC141863;BC144673;CH471126;DQ340180;NM_198479 AAI37502;AAI41864;AAI44674;ABC69291;BAC05130;EAW57514;NP_940881;Q8N7U7 Hs.629812 FLJ40321;TPRX CRX like homeobox 2;OTTHUMP00000244150;tetra-peptide repeat homeobox protein 1 APPROVED protein-coding ENSG00000178928 32174 13447 611166 VALIDATED 1345938 TPSP2 tryptase pseudogene 2 16 p13.3 1336344 1339074 - 10843716;12217407 64494;650474 AB038652;ABBA01030318;AC120498;AMYH01007031;NG_008446 pseudo ENSG00000260284 14136 INFERRED 1353746 TPSP3 tryptase pseudogene 3 64495 14127 1605803 TPRXL tetra-peptide repeat homeobox-like Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 p25.1 13917112 14045791 + 13953902 14082480 + 13978807 14107484 + 6480464 16344560;14702039;12477932;21832049;22116950 348825 E9PJS2;E9PK92;E9PLB7;E9PLC2;E9PNC5;E9PPI8;E9PPR8;E9PSA2;I3L0F9;Q17RH7 ABBA01025161;ABBA01025162;ABBA01025163;AC069462;AC090004;AK092426;AMYH01012996;BC016304;BC027729;BC117319;DA837466;NR_002223 BAC03887;Q17RH7 Hs.529180;Hs.638296 1673395;1774206;1898936;2072072;5127743;5493259 G09711;REN107230;REN20264;RH44949;UniSTS:485470;WI-17618 FLJ35107 APPROVED pseudo ENSG00000180438 32178 611167 VALIDATED 6904327 TPST2P1 tyrosylprotein sulfotransferase 2 pseudogene 1 15 36918878 36919977 - 100420710 ABBA01038496;AC013640;AMYH01006547;NG_025297 pseudo 44425 INFERRED 1601827 TPRG1L tumor protein p63 regulated 1-like 1 1 1 p36.32 2796682 2801797 + 3531416 3536555 + 3541556 3546695 + 6480464 17869247;16710414;15489334;14702039;12477932 127262 B4DPH8;Q5T0D9 ABBA01073655;AK025409;AK025464;AK096427;AK289919;AK298343;AL513320;AMYH01000192;BC019034;BI547609;BX115868;CH471130;NM_182752 AAH19034;BAF82608;BAG60590;EAW71455;EAW71456;NP_877429;Q5T0D9 Hs.20529 2139918;2139920 A006C08;G20693 FAM79A;FLJ21811;RP11-46F15.3;h-mover;mover OTTHUMP00000000660;OTTHUMP00000000661;family with sequence similarity 79, member A;mossy fiber terminal-associated vertebrate-specific presynaptic protein;tumor protein p63-regulated gene 1-like protein protein-coding ENSG00000158109 27007 14037 611460 VALIDATED 5687516 TPT1-AS1 TPT1 antisense RNA 1 13 q14.13 45915480 45965618 + 6480464 100190939 Q8WYW1 ABBA01021207;ABBA01021208;AF318337;AK124332;AK127569;AL138963;AL627107;AMYH01005087;AMYH01005088;BC004792;CH471075;NR_024458 AAH04792;AAL55844;BAC85835;EAX08736 Hs.375766 1338559;1688486;1693478;1788204;2130698;2132169;5015619;5016700;5022578;5037552;5117897;5125805 D11S3114;D13S1312;D1S1423;D8S2279;G67443;GDB:631813;RH64956;RH69418;RH79802;SGC33196;SHGC-58006;STS-W02829 FLJ42341;FLJ45662 APPROVED miscrna ENSG00000170919 43686 VALIDATED 1603050 TPRKB TP53RK binding protein 2 2 2 p24.3-p24.1 73807816 73815378 - 73810509 73818021 - 73956957 73964517 - 6480464 12659830;22912744;16344560;14702039;12477932;10810093;16189514;20383145;22863883;22939629;18029348;21139048;21906983;21931564 51002 Q9Y3C4 ABBA01075584;AC092653;AF060921;AF151879;AI759966;AK097254;AK291071;AK295239;AMYH01010439;AY157986;AY157987;AY643713;BC029492;CH471053;DA688967;NM_016058 AAD34116;AAG43133;AAH29492;AAN76356;AAN76357;AAT64915;BAF83760;BAG58232;EAW99720;EAW99721;EAW99722;EAW99723;NP_057142;Q9Y3C4 Hs.157401 1674595 SGC35854 CGI-121 OTTHUMP00000160247;OTTHUMP00000202482;OTTHUMP00000202483;PRPK (p53-related protein kinase)-binding protein;PRPK-binding protein;TP53RK-binding protein protein-coding ENSG00000144034 24259 608680 VALIDATED 1348535 TPT1P1 tumor protein, translationally-controlled 1 pseudogene 1 21 21 21 q22.11 18394928 18395735 + 32134524 32135041 + 33212560 33213367 + 100131268 ABBA01057298;AMYH01012198;AP000466;NG_021999 TPT1P APPROVED pseudo 16742 INFERRED 1314139 TPSD1 tryptase delta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 1520603 1522824 + 1246274 1248495 + 1306273 1308494 + 1580863 18854315;16751005;12477932;12391231;12217407;12100045;11174199;11157797;9920877;17947681;18325577;19748655 23430 Q9BZJ3 ABBA01030319;AC120498;AE006466;AF098327;AF099147;AF206664;AF318074;AF421357;AMYH01007031;AY055427;BC069143;CH471112;NM_012217 AAD17845;AAD17861;AAG35694;AAH69143;AAK12909;AAK61272;AAL17874;AAL86695;EAW85680;EAW85681;NP_036349;Q9BZJ3 Hs.677789 MCP7-LIKE;MCP7L1;MGC95428;MMCP-7L OTTHUMP00000158630;OTTHUMP00000158675;delta-tryptase;hmMCP-3-like tryptase III;hmMCP-7-like;mMCP-7-like delta II tryptase;mMCP-7-like-1;mMCP-7-like-2;mast cell mMCP-7-like;mast cell protease 7-like;mast cell tryptase;tryptase delta;tryptase-3 APPROVED protein-coding ENSG00000095917 14118 08345 609272 REVIEWED 1348891 TPSB2 tryptase beta 2 (gene/pseudogene) Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008] 16 16 p13.3 1218337 1220186 - 1278336 1280185 - 1580863;6480464 10708850;8434231;17474147;9920877;17449330;15567416;15489334;12477932;12217407;11157797;10898108;10843716;10500112;10391906;9521329;2203827;2187193;19748655 64499 F8W8D0;P20231 ABBA01030322;ABBA01030323;ABBA01030324;AC120498;AE006466;AF099143;AF099145;AF099146;AK308208;AMYH01007028;AMYH01007029;BC029356;BC065923;FJ931119;FJ931120;M33492;M33493;M37488;NG_032951;NM_024164;S55551 AAA36779;AAA36780;AAA51843;AAD13876;AAD17857;AAD17858;AAD17859;AAH29356;AAH65923;AAK61270;ACZ98913;NP_077078;P20231 Hs.405479;Hs.592982 1684820;1777575;2170530;2172591 RH69115;RH78261;RH78935;RH80805 TPS2;tryptaseB;tryptaseC OTTHUMP00000208944;mast cell tryptase beta II;mast cell tryptase beta III;tryptase II;tryptase III;tryptase beta II;tryptase beta III;tryptase beta-2;tryptase-2 APPROVED protein-coding ENSG00000197253 14120 10277 191081 REVIEWED 3029031 TPTE2P1 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 13 13 13 q12.13 6566446 6606170 - 24396815 24440409 - 25502893 25542607 - 14702039;23251661 646405 Q5T6R2 ABBA01007897;AK094224;AL354798;AMYH01004978;NR_026730 BAG52846 Hs.620592 1666644;1690392;1699366;1737477;5022425 D13S1026;D22S296;RH103270;RH92508;SGC30453 pseudo 35196 PROVISIONAL 1314090 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002] 13 13 13 q12.11 1058879 1172750 - 18895017 19008903 - 19997017 20110903 - 6480464 15057823;14659893;12717346;12477932;11716755;11329013;20379614;22990118;22164291;22896666;22311048 93492 G3V171;Q6XPS3 ABBA01068555;ABBA01068556;AJ421032;AJ421033;AK301741;AL079582;AL359457;AL590076;AMYH01004937;AMYH01004938;AY219890;BC128146;BC128147;BG200515;BG207812;CH471075;FJ969729;NM_001141968;NM_001271850;NM_130785;NM_199254;NR_073485;NR_073486;NR_073487 AAI28147;AAI28148;AAP45146;ACT21090;BAG63204;CAD13144;CAD13145;EAX08219;EAX08220;EAX08221;EAX08222;EAX08223;EAX08224;EAX08225;NP_001135440;NP_001258779;NP_570141;NP_954863;Q6XPS3 Hs.377488 5094652 PMC310823P1 MGC149231;TPIP OTTHUMP00000018072;OTTHUMP00000018073;OTTHUMP00000176861;PTEN-like inositol lipid phosphatase;TPIP lipid phosphatase;TPTE and PTEN homologous inositol lipid phosphatase;lipid phosphatase TPIP;phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase TPTE2 APPROVED protein-coding ENSG00000132958 17299 06003 606791 VALIDATED 2881921 TPTE2P4 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 4 Y Y q11.23 9586362 9657820 + 28654360 28726015 + 12815422 286573 AC013734;AC019099;NG_002820 1737395 D13S975 TPTEP pseudo 38077 INFERRED 1313297 TPST2 tyrosylprotein sulfotransferase 2 The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 22 22 22 q12.1 10725568 10789890 - 25251714 25316089 - 26921714 26986089 - 1580863;6480464 9736702;9733778;11256614;19343046;18672380;16303743;15489334;15461802;12477932;12169668;12056800;11230166;10591208;10497246;10089882;17558413;20460947;19402700;23481380 8459 B1AHJ5;B1AHJ6;B1AHJ7;B1AHJ8;B1AHJ9;B1AHK0;O60704 AA531491;ABBA01055201;AF049891;AF061254;AJ006198;AK074538;AK075139;AK304545;AL136623;AL708491;AMYH01012684;BC001057;BC017509;CH471095;CQ782485;CQ783200;CR456597;CR533528;HI573878;HI573880;NM_001008566;NM_003595;Z95115 AAC34296;AAC36061;AAH01057;AAH17509;ABM84526;BAG51969;BAG52071;BAH14212;CAA06906;CAB66558;CAF85772;CAF86406;CAG30483;CAG38559;CAK54628;CAK54927;CBX47428;CBX47429;EAW59726;EAW59727;EAW59728;NP_001008566;NP_003586;O60704 Hs.632768 1650509;1711472;1711486;1777832;2118641 G49193;G49244;SHGC-37519;WI-14070;WI-19497 TANGO13B OTTHUMP00000198866;OTTHUMP00000198867;OTTHUMP00000198868;TPST-2;protein-tyrosine sulfotransferase 2;transport and golgi organization 13 homolog B;tyrosylprotein phosphotransferase 2;tyrosylprotein sulfotransferase-2 APPROVED protein-coding ENSG00000128294 12021 07217 603126 REVIEWED 3436509 TPTE2P2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2 13 13 13 q14.3 34143438 34147105 + 51691664 51806485 - 52793663 52908484 - 12477932;16344560 644623 ABBA01051059;AL158066;AL683825;AMYH01005119;AMYH01005120;AMYH01005121;AMYH01005122;BC041842;BX088550;BX492305;DB088111;XR_133030;XR_159013;XR_172023 Hs.528448;Hs.678973 1758685;2111720;2151677;2163067 D13S1626;D13S773;D13S774;SHGC-149161 DKFZp434F1622 pseudo 38076 MODEL 1318261 TPST1 tyrosylprotein sulfotransferase 1 7 7 q11.21 65307750 65462865 + 65670259 65825438 + 1580863;6480464 7721887;9733778;9501187;19343046;18672380;16859706;16344560;15489334;12853948;12690205;12477932;12169668;12056800;12032733;10497246;10089882;15060624;16244708;17558413;20379614 8460 A4D2M0;C9J3I4;C9K0F3;O60507 AACC02000112;ABBA01048989;ABBA01048990;ABBA01048991;ABBA01048992;AC008267;AC026281;AC079855;AF038009;AI221558;AK307053;AK313098;AMYH01017485;AMYH01017486;AMYH01017487;AMYH01017488;BC013188;CH236961;CH471140;CR542060;CR542080;DB212291;NM_003596 AAC13552;AAH13188;AAS02012;AAS07522;ABM84489;ABM85174;BAG35922;CAG46857;CAG46877;EAL23739;EAX07937;EAX07938;NP_003587;O60507 Hs.421194 1664101;1682453;1689384;1754571;1782416;1849140;1857608;2108591;2116430;2139745;2152822;2186848 GDB:1317494;GDB:3754955;RH45913;RH68719;RH80530;RH80949;SHGC-132858;SHGC-154849;SHGC-36434;SHGC-53551;STS-AA034515;TPST1_8810 TANGO13A OTTHUMP00000159912;TPST-1;protein-tyrosine sulfotransferase 1;transport and golgi organization 13 homolog A;tyrosylprotein sulfotransferase-1 protein-coding ENSG00000169902 12020 07216 603125 VALIDATED 1347469 TPTE transmembrane phosphatase with tensin homology 21 21 p11 9928612 10012791 - 10906741 10990920 - 1580863;6480464 10598804;18074101;15489334;14659893;12477932;11810268;11279206;11030409;10830953;9693027;21139048 7179 C9JUN1;P56180 ABBA01002441;ABBA01007711;AF007118;AF254982;AF254983;AF495908;AI149736;AI200912;AK308254;AK314285;AL078471;AL163201;AL833345;AMYH01012129;AY219886;AY219887;AY219888;BC028719;DB459772;HC044491;NM_199259;NM_199260;NM_199261 AAC34574;AAH28719;AAP45143;AAP45144;AAP45145;AAQ06674;ABM82137;ABM85320;BAG36944;CAB90528;CBH30575;NP_954868;NP_954869;NP_954870;P56180 Hs.122986 1737395;1794184;5094652 D13S975;PMC310823P1;PMC310823P6 CT44;PTEN2 OTTHUMP00000082789;OTTHUMP00000082790;OTTHUMP00000082791;PTEN-related tyrosine phosphatase;cancer/testis antigen 44;putative tyrosine-protein phosphatase TPTE;tensin, putative protein-tyrosine phosphatase;tumor antigen BJ-HCC-5 protein-coding ENSG00000166157 12023 05064 604336 VALIDATED 2860648 TPTE2P3 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 13 13 13 q14.3 33908055 33934002 - 51961129 52059226 + 53063128 53161225 + 11810268;12477932;14702039;16751776 220115 ABBA01002545;ABBA01002546;ABBA01006536;ABBA01006537;ABBA01037066;AL137058;AMYH01005123;AMYH01005124;AMYH01005125;AMYH01005126;BC041889;DQ577179;NR_002793 Hs.528448 1758685;2151677;2163067 D13S773;D13S774;SHGC-149161 DKFZp434F1622;TPTEps1 pseudo ENSG00000198384 27345 PROVISIONAL 735250 TPT1 tumor protein, translationally-controlled 1 13 13 q14 44809304 44813297 - 45911304 45915297 - 1580863;6480464 12948934;12876410;12487227;12477932;12399545;12167714;12149273;11991642;11790298;11598139;11368327;10343127;9150946;9059837;7542803;2813067;1286669;1286667;14499622;15870695;15162379;15958728;17353931;18504434;16130169;15319436;19523440;19360337;18676370;18345488;18325344;18274553;18042794;17897616;17645945;17549383;16859841;15489334;15383549;15262975;15062873;15057823;14623968;14500674;22340241;22451927;21319273;22912717;16548883;16730713;19271148;19484128;19570981;19605695;19621893;19815065;20237496;20098747;20966960;21081126;22990118;21832049;22939629;21801721;21795694;19471022;18816836;21890473;21963094;22902387;23000965;22779921;15840729;18624398;21139048;21900206;21906983;21987572;22157679;21953552;22505724;22853445;23042265 7178 E9PJF7;H0YCX0;J3KPG2;P13693;Q5W0H4;Q8TBK7 ABBA01021208;AJ400717;AK130847;AK296587;AK296952;AK312951;AL138963;AMYH01005087;AY117678;AY334563;BC003352;BC007842;BC012431;BC022436;BC040008;BC052333;CH471075;CR457036;L13806;NM_003295;X16064;X64899 AAH03352;AAH12431;AAH22436;AAH40008;AAH52333;AAM51565;AAQ01550;ADZ16044;BAG35792;BAG59206;BAG59498;CAA34200;CAB87812;CAG33317;EAX08731;EAX08732;EAX08733;EAX08734;EAX08735;NP_003286;P13693 Hs.374596 1647492;1681664;1736630;1744721;1851246;5038551 D17S1473E;G26329;GDB:554914;HUM000S635;RH41035;RH68285 FLJ27337;HRF;TCTP;p02 OTTHUMP00000018344;OTTHUMP00000018345;OTTHUMP00000018346;OTTHUMP00000018347;OTTHUMP00000232047;OTTHUMP00000232048;fortilin;histamine-releasing factor;p23;translationally-controlled tumor protein protein-coding ENSG00000133112 12022 15979 600763 PROVISIONAL 5488463 TPTE2P6 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 13 13 q12.12 24052346 24069814 + 25154346 25171814 + 12477932 374491 ABBA01007893;AL122103;AL137411;AL359538;AMYH01004974;AMYH01004975;AMYH01004976;BC045761;DN831683;NR_002815 Hs.406779 pseudo 42644 VALIDATED 6484625 TPTE2P5 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5 13 q14.11 41371121 41495886 - 12477932;14702039;16344560 100616668 ABBA01021287;ABBA01021288;AK093232;AK096993;AL157877;AL161614;AL590064;AMYH01005057;AMYH01005058;AMYH01005059;AW137230;BC047078;DA313168;NR_038258;NR_038259 Hs.660718 1690392;5015404;5019046;5024413;5125520 G43535;L17705;L17877;RH92508;SGC38269 pseudo 42356 VALIDATED 6482487 TPTEP1 transmembrane phosphatase with tensin homology pseudogene 1 22 q11.1 17082801 17129720 + 6480464 12477932;14659893;14702039;20112338;2551777 387590 Q8N9C8 ABBA01001464;ABBA01001465;AK001299;AK094889;AK095032;AK097082;AK226145;AMYH01012420;AMYH01012421;AP000365;AP000547;AY219889;BC012110;BC017420;BC031001;BC107743;EU541208;M27826;NR_001591 BAC04480 Hs.474116 1742263;1747553;5022578;5037552;5092344;5094652;5117164 D1S1423;D8S2279;G49372;G65441;GDB:194282;GDB:451544;PMC310823P1 FLJ37713;MGC104374;psiTPTE22 pseudo ENSG00000100181 43648 PROVISIONAL 1353259 TRA T cell receptor alpha locus 14 14 q11.2 21159897 22090915 + 22090057 23021075 + 6480464 12429093;11048639;11827988;15489916;17652306;19470682;19056690;18611445;18523287;18378792;17785774;17391765;17082594;17023417;17015149;16968899;16548914;16424183;16310048;15494509;15128794;12925207;12796775;12477932;12473666;12444131;12039522;11920559;11142503;9110172;8188290;6440030;3875483;3875152;3873654;1303175;18314878;11877480;9586631;21479189;20519503;20553737;20711174;20713881;18927318;19412176;19675167;19756574;19927159;20035823;20042572;20145049;20208138;21264308;20677014;22859301;22872636;20496992;20681514;19782026;21481940;20940326;21282516;22953050;21666056;21690323;21673345;8710870;22053593;19465887;23246001;21966541;22177342;10866662;22357628;21636303;17823309;22344067;22658922;23000520;23336327;15123239;23251661 6955 ABBA01061263;ABBA01061264;ABBA01061265;ABBA01061266;ABBA01061267;ABBA01061268;ABBA01061269;ABBA01061270;ABBA01061271;ABBA01061272;ABBA01061273;ABBA01061274;ABBA01061275;ABBA01061276;ABBA01061277;ABBA01061278;ABBA01061279;AE000521;AE000658;AE000659;AE000660;AE000661;AE000662;AMYH01005596;AMYH01005597;M94081;NG_001332 AAB68997;AAB68998;AAB69000;AAB69001 1299943;1338342;1338735;1342230;1644978;1647900;1650608;1675165;1675167;1677688;1682437;1684224;1694764;1741999;1742655;1742669;1742851;1745801;1745803;1758889;1761273;1761551;1775697;1778369;1783032;1783122;1783124;1783126;1787696;1851546;1851860;2129038;2129598;2131541;2139010;2146178;2157668;2163397;2175320;2187763;7185537 D14S1003;D14S1186;D14S1325;D14S283;D14S50;D14S582;D14S585;D14S742;D14S920;G17820;G35434;G36229;G36317;G42940;G43587;G69448;GDB:188625;GDB:198186;GDB:198197;GDB:210884;GDB:642127;GDB:642137;RH11070;RH18088;RH25299;RH65571;RH70855;RH70886;RH93874;RH98957;SHGC-143450;SHGC-145279;SHGC-145547;SHGC-150895;SHGC-171777;SHGC-171779;SHGC-171840;SHGC-171842;STS-X61072;humtcajc FLJ22602;MGC117436;MGC22624;MGC23964;MGC71411;TCRA;TCRD;TRA@ T cell receptor alpha locus;T-cell antigen receptor, alpha polypeptide;T-cell receptor, alpha (V,D,J,C) 2315792 GLUCO171_H APPROVED protein-coding 12027 186880 VALIDATED 1349761 TRAC T cell receptor alpha constant 14 22086287 22090923 + 6480464 28755 P01848 X02592 1647900;1694764;1742669;1775697 D14S1325;G43587;GDB:198197;RH11070 12029 6770286 TRABD2B TraB domain containing 2B 1 p33 48226200 48462562 - 16710414;20379614;22425255;22726442;21963094;21987572;23251661 388630 A6NFA1 ABBA01050809;ABBA01050810;ABBA01050811;ABBA01050812;AC096541;AC099679;AK090467;AL691459;AMYH01000595;JQ653416;NM_001194986 A6NFA1;AFN02882;BAC03448;NP_001181915 Hs.61504 1340128;1670056;1692394;1692734;1758169;1758295;1770133;2111442;2155959 AL009451;AL033845;AL034124;D1S2134;D1S2839;SHGC-147566;SHGC-147957;SHGC-74778;SHGC-74794 TIKI2 TRAB domain-containing protein 2B;UPF0632 protein A;heart, kidney and adipose-enriched transmembrane protein homolog;metalloprotease TIKI2 protein-coding 44200 614913 VALIDATED 2840941 TRABD2A TraB domain containing 2A 2 2 2 p11.2 84877582 84937027 - 84902305 84961763 - 85048794 85108252 - 22726442;12477932;21963094;21987572 129293 C9IYB5;Q86V40 ABBA01075727;AC010087;AK128325;AK296608;AK309615;AMYH01010490;BC049209;BC051789;BC073808;BG170846;CH471053;JQ653415;NM_001080824;NM_001277053 AAH51789;AFN02881;BAG59220;EAW99549;EAW99551;NP_001074293;NP_001263982;Q86V40 Hs.469134 1298104;1342209;1698986;1850253;1853155;2186707;5022450;5037552;5109281 D10S275;D1S1425;D2S1387;D2S1790;D3S1621;D8S2279;G31007;RH103063;SHGC-33138 C2orf89;FLJ46467;TIKI1 OTTHUMP00000202877;TRAB domain-containing protein 2A;UPF0632 protein C2orf89;hypothetical protein LOC129293;metalloprotease TIKI1 APPROVED protein-coding ENSG00000186854 27013 614912 VALIDATED 1323589 TPX2 TPX2, microtubule-associated 20 20 q11.2 29790565 29853264 + 30326904 30389603 + 1580863;6480464 10512675;14580337;17474147;9207457;18029348;14718566;19424574;19208764;19148505;18663142;17716627;17705509;17081983;16964243;16565220;16489064;16287863;15705883;15489334;15302935;12477932;12477396;12389033;12177045;12097419;11780052;10871281;10393424;14702039;12612055;21147853;11256614;18662907;19773279;19801554;20508983;16341674;18773538;22207630;20599806;14600264;20708655;21099343;21187329;22939629;23045526;19471022;21139048;21347367;21890473;22307108;20360068;22761906;17939994;19357306;21988832;22094256;22412018;23000965;23752268;22110403 22974 Q643R0;Q96RR5;Q9ULW0 AB024704;AB027467;ABBA01019290;ABBA01019291;ABBA01019292;ABBA01019293;ABBA01019294;ABBA01019295;AF098158;AF146731;AF244547;AF287265;AK001391;AK093379;AK312549;AL117534;AL160175;AMYH01011830;AMYH01011831;AY734680;BC004136;BC011357;BC020207;BM835456;BU181208;CB960160;CH471077;NM_012112 AAD33965;AAF03248;AAF81695;AAH04136;AAH11357;AAH20207;AAK83033;AAU29203;ADZ15568;BAA76931;BAA85893;BAG35446;BAG50902;CAB55982;EAW76418;EAW76419;EAW76420;EAW76421;EAW76422;NP_036244;Q9ULW0 Hs.244580 1689686;1847903;2108967 RH16281;RH79783;TPX2_9293 C20orf1;C20orf2;DIL-2;DIL2;FLS353;GD:C20orf1;HCA519;HCTP4;REPP86;p100 OTTHUMP00000030547;OTTHUMP00000030548;TPX2, microtubule-associated protein homolog;TPX2, microtubule-associated, homolog;differentially expressed in cancerous and non-cancerous lung cells 2;differentially expressed in lung cells;hepatocellular carcinoma-associated antigen 519;preferentially expressed in colorectal cancer;protein fls353;restricted expression proliferation associated protein 100;restricted expression proliferation-associated protein 100;targeting protein for Xklp2;tpx2, microtubule-associated protein homolog (xenopus laevis) APPROVED protein-coding ENSG00000088325 1249 05802 605917 VALIDATED 1603645 TRA2A transformer 2 alpha homolog (Drosophila) This gene is a member of the transformer 2 homolog family and encodes a protein with two RS domains and an RRM (RNA recognition motif) domain. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Several alternatively spliced transcript variants of this gene have been described; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 p15.3 23533162 23560412 - 23510924 23538181 - 23544399 23571656 - 6480464;6907045 21145461;9546399;17081983;16964243;16097034;15489334;15324660;14765198;12761501;12477932;9847074;8799144;23084401;22990118;21447598;20508642;22939629;21110914;21900206;19471022;21139048;21890473;21906983;19322201;14729963;21382349;21988832;22094256;22365833;23000965;23255807 29896 B4DQI6;B4DUA9;F8WEH2;Q13595;Q549U1 AACC02000007;AB052759;AB097048;ABBA01056709;ABBA01056710;AC023105;AK298815;AK300565;AK300741;AK310719;AK311687;AK314801;AMYH01017116;BC017094;BC069011;CH236948;CH471073;DB445598;NM_013293;U53209 AAC50658;AAH17094;AAQ96870;ABM83368;ABM86579;BAC53792;BAC77401;BAG37329;BAG60948;BAG62271;BAG62410;EAW93788;EAW93789;NP_037425;Q13595 Hs.445652 1684475;1778243;1778867;2156232;2183129 RH44636;RH47545;RH48760;SHGC-34013;SHGC-37360 AWMS1;HSU53209 OTTHUMP00000158575;TRA-2 alpha;TRA2-alpha;Tra2alpha;htra-2 alpha;htra-2-alpha;putative MAPK activating protein PM24;transformer-2 alpha;transformer-2 protein homolog A;transformer-2 protein homolog alpha APPROVED protein-coding ENSG00000164548 16645 04096 602718 REVIEWED 1601961 TRABD TraB domain containing 22 22 22 q13.33 34499271 34512938 + 48966487 48980154 + 50624360 50638027 + 6480464 15489334;14702039;12529303;12477932;11214971;10591208;20562859;16196087;21139048;21906983 80305 J3KPT4;Q9H4I3 ABBA01011373;AF218001;AK024447;AK292050;AL022328;AL449244;AMYH01012895;AY203945;BC012445;BC093029;CH471138;DQ529300;NM_025204 AAG17243;AAH12445;AAH93029;AAP34468;ABF71986;BAB15737;BAF84739;CAC15001;EAW73497;EAW73498;EAW73499;EAW73500;EAW73501;EAW73502;NP_079480;Q9H4I3 Hs.741417 1773017;5020414;5020740;5020946;5022578;5024413 D1S1423;L17688;L17809;L17877;L17971;RH78658 LP6054;MGC110928;PP2447 OTTHUMP00000196711;OTTHUMP00000196712;OTTHUMP00000196713;OTTHUMP00000196714;traB domain-containing protein protein-coding ENSG00000170638 28805 11450 PROVISIONAL 732515 TRA2B transformer 2 beta homolog (Drosophila) This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] 3 3 q26.2-q27 187117226 187138450 - 185632356 185655924 - 6480464;6907045 9546399;15169763;19079260;19037821;17081983;16964243;16344560;15489334;15324660;14765198;14729963;14702039;14559993;14520560;12798777;12649279;12604596;12531473;12477932;12165565;11875052;11153908;10749975;10713112;10339552;9790768;9473574;9212162;8617505;7499316;9671816;11448987;17353931;16169070;17577209;20074680;19759913;21145461;21102462;20607830;20926394;22939629;22990118;12761049;15009664;20508642;21151833;16051665;20360068;21803291;21628590;21139048;21890473;21906983;19471022;17332742;18239623;21963094;21988832;22094256;22365833;23000965;23084401;23255807;16000324;23396973 6434 H7BXF3;H7C2L4;P62995 AB209208;ABBA01058399;AC009247;AF057159;AK091863;AK094495;AK098191;AK125610;AK301118;AK308267;AK315632;AMYH01013732;BC000160;BC000451;BC005898;CH471052;CR749214;DA164444;NG_029862;NM_001243879;NM_004593;U61267;U68063;U87836 AAB08701;AAB69763;AAC28242;AAD19277;AAD19278;AAD19279;AAH00160;AAH00451;AAH05898;ABM81863;ABW03333;BAC05256;BAD92445;BAG38000;BAG62714;CAH18071;EAW78204;EAW78205;EAW78206;EAW78207;EAW78208;NP_001230808;NP_004584;P62995 Hs.533122 2115481;2150766;5022322;5037552;5491246 D11S2560;D8S2279;MARC_5257-5258:991939526:5;SHGC-77608;WI-14755 DKFZp686F18120;Htra2-beta;SFRS10;SRFS10;TRA2-BETA;TRAN2B OTTHUMP00000210273;OTTHUMP00000210275;TRA-2 beta;splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila);transformer 2 homolog;transformer-2 protein homolog B;transformer-2 protein homolog beta;transformer-2-beta APPROVED protein-coding 10781 04097 602719 REVIEWED 5131809 TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 6 6 6 q21 112551239 112670077 + 111911402 112026533 + 111804675 111923498 + 10903453;23128233;20953186;20953188 643749 ABBA01026085;ABBA01026086;ABBA01026087;ABBA01026088;ABBA01026089;AF136408;AL008730;AL136310;AMYH01016592;BC031311;BC043575;BX647114;NR_034108;NR_034109;NR_034110;NR_034111;Z97989 Hs.486228 1654609;1657799;1659606;1663042;1666589;1670402;1699794;1773411;1774280;1847220;1849936;1851636;2135525;2146863;2157706;2159848;2162759;2169092;2178614;5015861;5015881;5092876;7185938 A002J25;A009B26;AL022468;B334ZD1;D10S16;D6S2103;G32386;GDB:335751;RH103504;RH16468;RH37457;RH46389;RH46812;RH66319;SHGC-31915;SHGC-32114;SHGC-34834;SHGC-53381;SHGC-56712;STS-N30426;WI-19981;WI-22075 C6UAS;C6orf3;NCRNA00248;TRAF3IP2-AS2 APPROVED miscrna ENSG00000231889 40005 VALIDATED 1352584 TRAF3IP2-AS2 TRAF3IP2 antisense RNA 2 (non-protein coding) q21 10903453 23736 AF136408 Hs.486228 C6UAS;C6orf3;NCRNA00248 APPROVED miscrna 1342 1351243 TRAF1 TNF receptor-associated factor 1 The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] 9 9 q33-q34 122704493 122728994 - 123664671 123691451 - 1580863;6480464;6484113;6907045 9162022;10809768;8069916;19565500;19453261;19433411;19416238;19401279;19336421;19336370;19287455;19180477;19116907;19110536;19023125;18759306;18625278;18593758;18576341;18434327;18432273;18429822;17880261;17827388;17804836;17405906;17235653;16891304;16713569;16304992;15941918;15489334;14981539;14743216;14557256;12709429;12477932;12411322;12089335;11907583;11804591;11728344;11696595;11607847;11384837;11313261;11279055;11278268;11181075;11098060;11035039;10903733;10635328;10411888;10037686;10025951;9852070;9774460;9718306;9705938;9642260;9607925;9488716;9464265;9418902;9384571;9300817;9208847;9168896;9104814;8943045;8710854;8702708;8692885;8627180;8612133;8565075;7859281;7527023;9928991;10837247;10514511;9794406;12887920;9774977;8662842;9275204;21383967;10692572;12529173;15084608;16323247;18794853;19503088;19540595;19617629;19641626;19674979;19698991;19714643;19741008;19902201;19918040;20030635;20049410;20056178;20205706;20219786;20233754;20237496;20353580;20385093;20439292;20444755;20479942;20498205;20413583;17207965;20614026;15383523;20453842;20797713;20800603;20822712;20962850;21048031;19913121;20628086;15468071;19394292;20856938;21153322;22820624;23088713;23381138;21492465;17544371;21724995;15707590;21139048;21903422;23242182;23798571;22196377;21968398;22184633;10544141;14982987;15944293;20447407;22284611;19795416;8548810;9500555;21988832;23321589;23125866;23524849;23543740;11435475;20138174;22586175 7185 Q13077 ABBA01016240;AC006430;AK090468;AK295959;AK315476;AL832989;AMYH01021691;AW014547;BC024145;BT019408;CH471090;HI574112;NG_023346;NM_001190945;NM_001190947;NM_005658;U19261 AAA62309;AAH24145;AAV38215;ADQ32235;BAC03449;BAG37860;BAG58739;CAH56343;CBX47545;EAW87479;NP_001177874;NP_001177876;NP_005649;Q13077 Hs.531251 1651220;1664561;1669601;1675784;1777861 RH17818;RH79125;RH94100;SGC35347;SHGC-30554 EBI6;MGC:10353 Epstein-Bar virus-induced protein 6;OTTHUMP00000022000;TNF receptor-associated factor 1;epstein-Barr virus-induced protein 6 APPROVED protein-coding ENSG00000056558 12031 03418 601711 REVIEWED 1350695 TRADD TNFRSF1A-associated via death domain The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008] 16 16 q22 65745589 65751313 - 67188088 67193812 - 1580863;2292150;5685014;6480464;6484113;6907045 12655295;21235323 22170762;7758105;11684708;14644197;12761501;12887920;19336370;19151112;18990758;18661484;18198944;18174230;17922260;17235653;17051333;16611992;16344560;16227624;16006552;15761471;15489334;15310755;14702039;14585990;12911633;12665801;12604596;12576460;12477932;12446787;12417987;12045187;11435712;11112773;11032752;10911999;10892748;10848577;10400625;10356400;10187805;9916988;9916731;9714541;9430227;9427646;14660619;11821416;22297296;22561347;9356494;8943045;8934525;8702708;8681376;8612133;8565075;15103018;12107169;18939944;9915703;9082980;14743216;11479302;9020361;9560245;12796506;11226577;11112409;15247912;1040062;11934887;17540176;19453261;19573080;19773279;19854717;8621670;20568250;21068102;12753742;15485837;16603398;19815541;21724995;20005846;18309324;22099304;15707590;22318606;22510408;21421854;22179575;21906983;10544141;18776134;10980203;11035039;11181075;19287455;17702576;19176810;19781631 8717 B3KQZ9;Q15628 ABBA01025431;AC074143;AJ307882;AJ311614;AJ311615;AJ311616;AK090673;AK301593;AK315654;AMYH01007745;AY575851;AY995114;BC004491;BG717460;BQ707739;BT006934;CA426418;CH471092;DA353575;HD119556;L41690;NM_003789 AAA98482;AAH04491;AAP35580;AAS68637;AAX89407;ABM84345;ABM87737;BAG38020;BAG52211;BAG63082;CAC38018;CBW52910;EAW83081;NP_003780;Q15628 Hs.460996 1798292;1855221;2121055 RH69054;RH78922;TRADD_1477 Hs.89862;MGC11078 OTTHUMP00000174816;TNFR1-associated death domain protein;tumor necrosis factor receptor type 1 associated death domain protein;tumor necrosis factor receptor type 1-associated DEATH domain protein;tumor necrosis factor receptor-1-associated protein APPROVED protein-coding 12030 04610 603500 REVIEWED 1319493 TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 2 2 2 q37.3 232941689 233022043 + 238893821 238972536 + 239229185 239309541 + 1580863;6480464 19251251;12935900;12812986;12477932;10791955;21510943;20391533;17643375;19898482;20379614;17043677;21832049;20360068;22079989;21835309 26146 A8MTK4;H7BZ10;Q8TDR0 ABBA01042605;ABBA01042606;AC012485;AF230877;AF242456;AI356967;AL080153;AMYH01011605;AMYH01011606;BC059174;BX482493;CH471063;NM_001139490;NM_015650 AAF76984;AAH59174;AAL90444;AAX88977;CAB45744;EAW71156;EAW71157;NP_001132962;NP_056465;Q8TDR0 Hs.631898 1752371;2109993;2119798 RH65470;SHGC-78398;TRAF3IP1_9465 DKFZp434F124;MIP-T3;MIPT3 OTTHUMP00000202584;OTTHUMP00000202585;TRAF3-interacting protein 1;interleukin 13 receptor alpha 1-binding protein-1;interleukin-13 receptor alpha 1-binding protein 1;microtubule interacting protein that associates with TRAF3;microtubule-interacting protein associated with TRAF3;microtubule-interacting protein that associates with TRAF3 protein-coding ENSG00000204104 17861 09571 607380 VALIDATED 1312182 TRAF3 TNF receptor-associated factor 3 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Several alternatively spliced transcript variants encoding three distinct isoforms have been reported. [provided by RefSeq, Dec 2010] 14 14 q32.32 102313569 102442381 + 103243816 103377837 + 5685014;6480464;6907045 21235323 9275204;7527023;9162022;10791955;11035039;12005438;15280356;7530216;7533327;10799510;19074885;19023125;18614628;18607851;18275617;18042799;17692805;17626074;17608743;17586463;16858409;16582590;16429118;16311516;16306936;16280329;16009714;15708970;15585864;15514968;15489334;15383523;15208311;15084608;14743216;14716302;14572659;14517219;12860972;12571250;12477932;12471121;12270937;12220533;12169272;12136149;12089335;11950878;11728344;11607847;11562359;11384837;11279055;11278268;11261798;10984535;10903733;10862698;10809768;10781837;10764746;10644711;10635328;10557073;10523862;10199393;10037686;10025951;9852070;9794406;9774977;9774460;9718306;9582383;9550380;9488716;9464265;9418902;9388227;9168896;9122217;8710854;8663299;8626767;8612133;8565075;7859281;10207006;9990007;9384571;10837247;10514511;11098060;8662842;10352240;16260598;17878343;20614026;21200404;22011580;22330071;22908223;19954665;17823124;17991829;19419966;19667091;19693093;19893624;19996094;20008286;20056178;20097753;20138174;20185819;20237496;20348096;20504251;20832341;19937093;20585848;20800603;21084666;21041727;19913121;20628086;15485634;22901541;22792062;21228035;21660053;17544371;21864338;20080758;21139048;21703539;21890473;21906983;22469134;11226259;20161788;21903422;22017431;22022264;22079989;14982987;15944293;20174559;21885437;12529173;12637493;15941918;21041452;23329887;23334419;23524849;23543740;23612708;11435475;22709905;22715070;22945920;23308279;23381138;21963094;21988832;23333941;23303668 7187 A6NHG8;H0YL25;H0YL26;H0YMI8;Q13114 ABBA01048450;ABBA01048451;ABBA01048452;ABBA01048453;ABBA01048454;AF110908;AK303172;AL117209;AL132801;AMYH01006039;BC075086;BC075087;BQ000015;BX247977;CH471061;L38509;NG_027973;NM_001199427;NM_003300;NM_145725;NM_145726;U15637;U19260;U21092 AAA56753;AAA65732;AAA68195;AAC50112;AAD29276;AAH75086;AAH75087;BAH13910;CAD62311;EAW81795;EAW81796;EAW81797;NP_001186356;NP_003291;NP_663777;NP_663778;Q13114 Hs.510528 1341897;1769539;1773681;1796996;2129352;2147324;2171483;5126358;7187061 D14S272;G15867;G35442;G35638;RH69049;SGC34698;TRAF3_1584;WI-13969 CAP-1;CAP1;CD40bp;CRAF1;IIAE5;LAP1 CD40 associated protein 1;CD40 binding protein;CD40 receptor associated factor 1;CD40 receptor-associated factor 1;CD40-binding protein;LMP1 associated protein;LMP1-associated protein 1;TNF receptor-associated factor 3 APPROVED protein-coding ENSG00000131323 12033 03539 601896;614849 REVIEWED 1312403 TRAF3IP2 TRAF3 interacting protein 2 This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009] 6 6 q21 111986836 112034014 - 111876581 111927477 - 6480464 10962033;12761501;18061473;17982039;16189514;15489334;14702039;14574404;12943667;12477932;12459498;12163033;12089335;10962024;10903453;12133833;17213182;19825828;20953186;20953190;20953188;20543113;17277779;23066157;15485634;16344560;22513239;21749686;22045853;22581863;23128233;20467438;22851696;22445837;23737552 10758 Q9H6Y3 ABBA01026085;ABBA01026086;AF085921;AF136405;AF136406;AF136407;AF272151;AF274303;AK025351;AK026602;AK310141;AK310922;AK314415;AL008730;AL050289;AMYH01016592;AW296296;AW513823;BC002823;BC026723;BE904103;BI856094;BM449775;CB049654;CH471051;CS135278;DA130363;DA836923;DC348710;DT217829;NG_032030;NM_001164281;NM_001164283;NM_147686;NR_028338;Z97989 AAF67445;AAF67446;AAF67447;AAG15367;AAG15407;AAH02823;ADZ15458;BAB15117;BAB15507;BAG37036;CAB43390;CAJ21527;EAW48285;EAW48286;EAW48287;EAW48288;NP_001157753;NP_001157755;NP_679211;O43734 Hs.561514;Hs.740602 1657799;1663042;1666589;1670402;1773411;1847220;1849936;1851636;2135525;2146863;2159848;2162759;2169092;2178614;5014732;5016478;5016596;5020414;5022578;5037552;5092876;5109281;5117897;5120437 A002J25;A009B26;AL022468;B334ZD1;D1S1423;D1S1425;D6S2103;D8S2279;G32386;G38229;GDB:315881;GDB:434012;GDB:631802;GDB:631813;L17688;RH16468;RH37457;RH46812;RH66319;SHGC-31915;SHGC-32114;SHGC-34834;WI-19981;WI-22075 ACT1;C6orf2;C6orf4;C6orf5;C6orf6;CIKS;DKFZp586G0522;MGC3581;PSORS13 NFkB-activating protein ACT1;OTTHUMP00000017022;OTTHUMP00000017023;OTTHUMP00000017024;OTTHUMP00000017025;TRAF3-interacting protein 2;adapter protein CIKS;connection to IKK and SAPK/JNK;nuclear factor NF-kappa-B activator 1 APPROVED protein-coding ENSG00000056972 1343 06129 607043;614070 REVIEWED 7206876 TRAF6P1 TNF receptor-associated factor 6 pseudogene 1 10 q21.1 60896385 60897942 - 644871 ABBA01019444;AC016398;AMYH01002766;NG_022147 pseudo 45032 INFERRED 1321367 TRAF2 TNF receptor-associated factor 2 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008] 9 9 q34 138900786 138940888 + 139780965 139821067 + 1580863;2292150;2296020;5130945;6480464;6484113;6907045 12655295;12215209;20967881 21229359;11466612;11777919;8702708;15125833;14644197;7758105;12887920;19573080;19527514;19453261;19336370;19243308;19234489;19151112;19150425;19019335;18990758;18981220;18827186;18818748;18787502;18671942;18362156;18312353;18292192;18230756;18069092;17724081;17626074;17599408;17389591;17379600;16936264;16891304;16713569;16636664;16446357;16311516;16304992;16282325;16260598;16227629;16214042;16189514;16153868;16009713;10581243;10523862;10521462;10514511;10490605;10477597;10411888;10346818;10339433;10206649;10037686;10025951;9852070;9827693;9774977;9774460;9733516;9718306;9712898;9705938;9692890;9607925;9582383;9500555;9488716;9464265;9461607;9418902;9384571;9353251;9208847;9168896;9162022;9153189;9104814;9020361;8999898;8985011;8875942;8710854;8692885;8643514;8627180;8612133;8565075;8125298;8069916;7639698;17923499;10882101;18950704;9244310;8943045;10759890;11479302;10911999;11057907;9990007;10075662;9685412;9794406;17015619;15743837;15708970;15944293;15670977;15489334;15383523;15310755;15308666;15265700;15208311;14743216;14741690;14702039;14633987;14585990;14557256;12917691;12843613;12842894;12591926;12571250;12547194;12477932;12411493;12411322;12169272;12136106;11971184;11932422;11907583;11907088;11882293;11805080;11804591;11798190;11784851;11728344;11607847;11435475;11384837;11359906;11340079;11279055;11278723;11278268;11112773;11064452;11035039;10990461;10903733;10892748;10880535;10809768;10764746;10753917;10650002;10617615;22711886;15861135;11821416;12796506;9275204;8662842;15696169;10352240;15258597;10837247;12296995;16378096;19690440;20577214;21289304;21119000;12529173;15084608;16291755;16876162;18024283;18029348;19667091;19773279;19810754;20047764;20056178;20064526;20133937;20237496;20333651;20385093;20449947;16341674;20568250;20585848;16263936;20562859;20447407;21071692;20628086;20856938;21282507;21325409;21266470;11909853;12867425;12917689;12917690;15485837;18362886;19937093;15485634;21282461;20005846;23608757;23142077;16603398;17314283;17544371;19815541;21810480;19815509;21620750;21886773;21903422;21921033;22029577;19506082;19586614;21078624;21864338;21793045;15707590;17851586;20448643;21078302;21331077;21421854;21987572;22078441;22179575;22184250;22212761;20972266;21139048;21890473;21906983;20974987;10544141;14982987;15327770;18776134;19584093;20348096;22271254;16611992;18022363;20368287;20676093;21963094;21988832;22792062;22847298;23000965;23405219;23453969;15121867;23051914;20184394;20614026;22170762;22195745;22525270;22550173;22685297;22863753;10980203;11181075;11562359;12005438;12637493;14517219;15941918;17384642;19287455;19795416;20949042;21041452;21041727;21653699;8548810;22732732;23088713;23188828;23357418;23381138;23524849;23543740;12220533;15670770;18271526;19380743;20138174;20732415;22167321;22505724;22585859;23007157 7186 B1AMX7;B1AMX8;B1AMX9;B1AMY1;Q12933 ABBA01022731;ABBA01022732;AK054686;AK222961;AK289722;AK294607;AK298370;AL355987;AL449425;AMYH01021880;AMYH01021881;AY623660;BC032410;BC033810;BC043492;BC064662;BM785733;BX538160;CH471090;HM991672;NM_021138 AAH32410;AAH33810;AAH43492;AAH64662;AAT27320;ABM84542;ABM85690;ACE86698;ACE86716;ACE87382;ACE87402;ADQ89802;BAB70792;BAF82411;BAG57794;BAG60609;CAD98040;EAW88299;EAW88300;EAW88301;EAW88302;EAW88303;EAW88304;EAW88305;NP_066961;Q12933 Hs.522506 2157540;5095975;5125741 RH79117;STS-H09083;WI-18599 MGC:45012;TRAP;TRAP3 E3 ubiquitin-protein ligase TRAF2;OTTHUMP00000022623;OTTHUMP00000022625;TNF receptor-associated factor 2;tumor necrosis factor type 2 receptor associated protein 3;tumor necrosis factor type 2 receptor-associated protein 3 APPROVED protein-coding ENSG00000127191 12032 03538 601895 REVIEWED 1604284 TRAF3IP3 TRAF3 interacting protein 3 The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multiprotein assembly containing the phosphatase 2A catalytic subunit. [provided by RefSeq, May 2010] 1 1 1 q32 183160288 183186562 + 207996147 208022288 + 209929394 209955668 + 6480464 17868742;17277885;17203973;16710414;15489334;14702039;14572659;12477932;8125298;18782753;20379614;16147992 80342 B1AJU2;C9J0C0;C9JBA0;C9JXB3;E2QRE5;H0YF09;Q9Y228 ABBA01048213;ABBA01048214;AK092905;AK122792;AK125601;AK126139;AK225762;AK300555;AK312755;AL022398;AL049667;AMYH01001696;BC110302;BC130417;BC144139;BX648450;CA436636;CB053101;CH471100;NM_025228 AAI10303;AAI30418;AAI44140;BAG54221;BAG62261;CAB41242;EAW93441;EAW93442;EAW93443;EAW93444;NP_079504;Q9Y228 Hs.147434 1683301 RH98355 DJ434O14.3;FLJ44151;MGC117354;MGC163289;T3JAM OTTHUMP00000034645;OTTHUMP00000034646;OTTHUMP00000038604;OTTHUMP00000216868;OTTHUMP00000216869;TRAF3 interacting Jun N terminal kinase (JNK) activating modulator;TRAF3-interacting JNK-activating modulator;TRAF3-interacting protein 3 APPROVED protein-coding ENSG00000009790 30766 16305 608255 REVIEWED 1354300 TRAJ1 T cell receptor alpha joining 1 14 22083821 22083882 + 28754 X02884 12037 1353228 TRAJ10 T cell receptor alpha joining 10 14 22072285 22072348 + 28745 M94081 12038 1346678 TRAJ11 T cell receptor alpha joining 11 14 22071292 22071351 + 28744 M94081 12039 1347755 TRAJ12 T cell receptor alpha joining 12 14 22070729 22070788 + 28743 X02885 12040 1315478 TRAF4 TNF receptor-associated factor 4 This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 17 17 q11-q12 24095150 24102103 + 27071023 27077976 + 1580863;6480464;6907045 7592751;18953416;18593758;18087216;16799635;16157600;16052631;15941918;15489334;12801526;12788948;12477932;12354113;12023963;11943846;11607847;11384837;11279055;10514511;9626059;9507120;7490069;15231748;17927880;20056178;20237496;20946164;19937093;21097508;19779646;23381138;23388826;21987572;22547678;22649194;21139048;21890473;21906983;16969126;11562359;22493164;9718306;22505724 9618 C9JJ10;F6SA91;J3QR87;J3QS94;J9JIG0;K7EJG7;K7EM06;K7ER49;Q9BUZ4 ABBA01015046;AC010761;AF082185;AK300804;AMYH01008283;AMYH01008284;AY937222;AY937223;AY937224;BC001769;BC026726;BC047358;CH471159;CR990949;DQ323999;NM_004295;X80200 AAC32376;AAH01769;AAY16988;AAY16989;AAY16990;ABC40750;ABM83751;ABM87070;BAG62461;CAA56491;EAW51138;EAW51139;EAW51140;EAW51141;EAW51142;NP_004286;Q9BUZ4 Hs.8375 1671985;1796998 RH16881;TRAF4_282.2 CART1;MLN62;RNF83 MLN 62;OTTHUMP00000163519;RING finger protein 83;TNF receptor-associated factor 4;cysteine-rich domain associated with RING and Traf domains protein 1;cysteine-rich domain associated with ring and TRAF domain;malignant 62;metastatic lymph node gene 62 protein;tumor necrosis receptor-associated factor 4A APPROVED protein-coding ENSG00000076604 12034 03915 602464 REVIEWED 1344434 TRAJ13 T cell receptor alpha joining 13 14 22069866 22069928 + 28742 M94081 12041 1354201 TRAJ14 T cell receptor alpha joining 14 14 22069118 22069169 + 28741 M94081 12042 1350739 TRAJ15 T cell receptor alpha joining 15 14 22068420 22068481 + 28740 X05775 12043 1346371 TRAJ16 T cell receptor alpha joining 16 14 22067327 22067386 + 28739 M94081 12044 1350626 TRAJ18 T cell receptor alpha joining 18 14 22064460 22064525 + 28737 M94081 12046 1343115 TRAJ17 T cell receptor alpha joining 17 14 22065652 22065714 + 28738 X05773 1299943;1342230;1644978;1647900;1650608;1675165;1675167;1682437;1694764;1741999;1742651;1742653;1742655;1742669;1742851;1745803;1761273;1761551;1775697;1783032;1783122;1783126;1787696;1851546;1851860;2131541;2139010;2146178;2187763;7185537 D14S1186;D14S1325;D14S283;D14S50;D14S920;G17820;G35434;G42940;G43587;G69448;GDB:188625;GDB:198183;GDB:198184;GDB:198186;GDB:198197;GDB:210884;GDB:642137;RH11070;RH18088;RH70855;RH93874;SHGC-143450;SHGC-145279;SHGC-145547;SHGC-171777;SHGC-171779;SHGC-171842;STS-X61072;humtcajc 12045 1347224 TRAJ19 T cell receptor alpha joining 19 14 22064073 22064132 + 28736 M94081 12047 1349316 TRAJ2 T cell receptor alpha joining 2 14 22082855 22082920 + 28753 X02884 1644978 humtcajc 12048 1350798 TRAJ20 T cell receptor alpha joining 20 14 22063136 22063192 + 28735 M94081 12049 1345769 TRAJ21 T cell receptor alpha joining 21 14 22062413 22062467 + 28734 M94081 12050 1345240 TRAJ22 T cell receptor alpha joining 22 14 22060856 22060918 + 28733 X02886 12051 1353812 TRAJ23 T cell receptor alpha joining 23 14 22059234 22059296 + 28732 M94081 12052 1350591 TRAJ24 T cell receptor alpha joining 24 14 22058787 22058849 + 28731 X02887 12053 1351831 TRAJ26 T cell receptor alpha joining 26 14 22057264 22057323 + 28729 M94081 12055 1346970 TRAJ25 T cell receptor alpha joining 25 14 22057630 22057689 + 28730 X02888 12054 1349963 TRAJ27 T cell receptor alpha joining 27 14 22055091 22055149 + 28728 M94081 12056 1348080 TRAJ28 T cell receptor alpha joining 28 14 22054441 22054506 + 28727 M94081 12057 1344801 TRAJ29 T cell receptor alpha joining 29 14 22052761 22052820 + 28726 X02889 12058 1346062 TRAJ3 T cell receptor alpha joining 3 14 22081962 22082023 + 28752 X02884 1644978 humtcajc 12059 1352053 TRAJ30 T cell receptor alpha joining 30 14 22051674 22051730 + 28725 M94081 12060 1345584 TRAJ32 T cell receptor alpha joining 32 14 22048165 22048230 + 28723 M94081 12062 1345027 TRAJ31 T cell receptor alpha joining 31 14 22049791 22049847 + 28724 M14905 1675165;1675167 G42940;STS-X61072 12061 1348703 TRAJ33 T cell receptor alpha joining 33 14 22047427 22047483 + 28722 M94081 12063 1352292 TRAJ34 T cell receptor alpha joining 34 14 22046491 22046548 + 28721 M35622 12064 1343758 TRAJ35 T cell receptor alpha joining 35 14 22045469 22045527 + 28720 M94081 12065 1344339 TRAJ36 T cell receptor alpha joining 36 14 22043936 22043995 + 28719 M94081 12066 1347585 TRAJ37 T cell receptor alpha joining 37 14 22042575 22042637 + 28718 M94081 12067 1347806 TRAJ39 T cell receptor alpha joining 39 14 22040425 22040487 + 28716 M94081 12069 1342743 TRAJ38 T cell receptor alpha joining 38 14 22041055 22041116 + 28717 M94081 12068 1347112 TRAJ4 T cell receptor alpha joining 4 14 22080982 22081044 + 28751 M94081 12070 1353549 TRAJ40 T cell receptor alpha joining 40 14 22038512 22038572 + 28715 M35620 2187763 G69448 12071 1605425 TRAF5 TNF receptor-associated factor 5 The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 1 1 q32 209566580 209614911 + 211499957 211548288 + 6480464;6907045 9153189;10075662;10809768;12761501;9511754;18029348;19573080;18990758;17277003;16344560;15708970;15489334;14702039;12842894;12477932;12169272;12089335;12000717;11971184;11882293;11607847;11562359;11479302;11384837;11279055;11035039;10908663;10880535;10764746;10523862;10449775;10025951;9990007;9774977;9774460;9718306;9642260;9582383;9488716;9275204;9177772;9162022;9126477;8999898;8889548;8790348;8663299;15749123;9852070;9685412;10514511;15383523;20614026;12296995;12529173;19773279;20056178;20237496;20331378;22593207;20161788;20568250;21048031;19937093;15121867;20676093;21988832;23329887;23381138;17544371;21903422;14982987;14517219;15941918;17384642;21041727;22493164;11435475;12220533;20138174 7188 F5H1P7;O00463 AB000509;ABBA01048192;AK126502;AK295766;AK303286;AL590101;AMYH01001699;BC029600;BC032830;BM453281;BU676629;CD709275;CH471100;CR536557;DB218840;DB290838;NM_001033910;NM_004619;NM_145759;U69108 AAC51329;AAH29600;ACT64504;ACT64505;BAA25262;BAG54338;BAG58591;BAG64364;CAG38794;EAW93419;EAW93420;EAW93421;EAW93422;NP_001029082;NP_004610;NP_665702;O00463 Hs.523930 1714325;1852410;2132647;5037552 D1S2353;D8S2279;RH119942;SHGC-76306 MGC:39780;RNF84 OTTHUMP00000035055;OTTHUMP00000035056;RING finger protein 84;TNF receptor-associated factor 5 APPROVED protein-coding ENSG00000082512 12035 03834 602356 REVIEWED 1342480 TRAJ42 T cell receptor alpha joining 42 14 22035712 22035777 + 28713 M94081 12073 1350204 TRAJ41 T cell receptor alpha joining 41 14 22036482 22036543 + 28714 M94081 12072 1354087 TRAJ43 T cell receptor alpha joining 43 14 22034736 22034789 + 28712 M94081 12074 1349328 TRAJ44 T cell receptor alpha joining 44 14 22033646 22033708 + 28711 M35619 12075 1345906 TRAJ45 T cell receptor alpha joining 45 14 22032751 22032816 + 28710 M94081 12076 1354097 TRAJ46 T cell receptor alpha joining 46 14 22032229 22032291 + 28709 M94081 12077 1343104 TRAJ47 T cell receptor alpha joining 47 14 22031678 22031734 + 28708 M94081 12078 1348135 TRAJ48 T cell receptor alpha joining 48 14 22029319 22029381 + 28707 M94081 12079 1351464 TRAJ49 T cell receptor alpha joining 49 14 22028316 22028371 + 28706 M94081 12080 1352953 TRAJ5 T cell receptor alpha joining 5 14 22079030 22079089 + 28750 M94081 12081 1348307 TRAJ50 T cell receptor alpha joining 50 14 22027421 22027480 + 28705 M94081 12082 1354445 TRAJ52 T cell receptor alpha joining 52 14 22025056 22025124 + 28703 M94081 1851860 G17820 12084 1350914 TRAJ51 T cell receptor alpha joining 51 (pseudogene) 14 14 14 q11 2819120 2819182 + 22026011 22026073 + 22956171 22956233 + 8188290 28704 ABBA01061278;AE000521;AE000661;AMYH01005597;M94081;NG_001332 APPROVED pseudo 12083 VALIDATED 1345879 TRAJ54 T cell receptor alpha joining 54 14 22021116 22021175 + 28701 M94081 12086 1344737 TRAJ53 T cell receptor alpha joining 53 14 22021833 22021898 + 28702 M94081 12085 1348545 TRAJ55 T cell receptor alpha joining 55 (pseudogene) 14 14 14 q11 2813634 2813690 + 22020526 22020582 + 22950686 22950742 + 8188290 28700 ABBA01061278;AE000521;AE000661;AMYH01005597;M94081;NG_001332 APPROVED pseudo 12087 VALIDATED 1352793 TRAJ56 T cell receptor alpha joining 56 14 22018350 22018411 + 28699 M94081 12088 1343823 TRAJ57 T cell receptor alpha joining 57 14 22017701 22017763 + 28698 M94081 12089 1348130 TRAJ59 T cell receptor alpha joining 59 14 22015383 22015436 + 28696 M94081 12091 1351793 TRAJ58 T cell receptor alpha joining 58 14 22016536 22016598 + 28697 M94081 12090 1354023 TRAJ6 T cell receptor alpha joining 6 14 22077856 22077917 + 28749 M16747 12092 1344196 TRAJ60 T cell receptor alpha joining 60 (pseudogene) 14 14 14 q11 2808243 2808299 + 22015136 22015192 + 22945296 22945352 + 8188290 28695 ABBA01061278;AE000521;AE000661;AMYH01005597;M94081;NG_001332 APPROVED pseudo 12093 VALIDATED 1347382 TRAJ61 T cell receptor alpha joining 61 14 22014146 22014205 + 28694 M94081 12094 1350043 TRAJ7 T cell receptor alpha joining 7 14 22076407 22076465 + 28748 M94081 12095 1346530 TRAJ8 T cell receptor alpha joining 8 14 22074932 22074991 + 28747 M94081 12096 1343301 TRAJ9 T cell receptor alpha joining 9 14 22074342 22074402 + 28746 M94081 12097 1315706 TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain. Two alternatively spliced transcript variants, encoding an identical protein, have been reported. [provided by RefSeq, Feb 2012] 11 11 p12 36467302 36488398 - 36505317 36531863 - 1580863;5490218;5130945;5490215;5685014;6480464;6484113;6907045;7240533 18535784;20967881;20086235;21235323;20626350 11244088;11397809;11751921;15125833;12761501;9162092;9744859;10066798;10465784;12138165;12609980;19573080;19453261;19365808;19331827;19254290;19232518;19112497;18996842;18987746;18984593;18922473;18782768;18759459;18758450;18710948;18682563;18617513;18474871;18457658;18411265;18234474;18093978;18070982;18056395;17982039;17905570;17878161;17724081;17608743;17572386;17377523;17363736;17346928;17135271;16932746;16920630;16635910;16527194;16517750;16484229;16452479;16446357;16436380;16354686;16313339;16286016;16280329;16260598;16251197;16230348;16221674;16196101;16189514;16184196;16153868;16125763;16079148;16052631;15670770;15665823;15634933;15591054;15492226;15489334;15456887;15361868;15308666;15280356;15247281;14996708;14754897;14743216;14665433;14661019;14633987;14593105;14550571;14530355;14500659;12925853;12917691;12874243;12804775;12721283;12714497;12566447;12496252;12477932;12459498;12270937;12193732;12140561;12060722;12048196;11960013;14702039;11518704;10921914;19012753;18950704;18768464;10791955;11544529;9990007;9384571;11809792;9852070;17353931;15894263;15327770;15474016;9275204;11882293;11847341;11607847;11463333;11418661;11406619;11384837;11279055;11278268;11250893;11057907;11035039;10920205;10908663;10882101;10880535;10764746;10748240;10747026;10635328;10523862;10514511;10411888;10383454;10346818;10094049;10075662;10025951;9928991;9915784;9774977;9774460;9685412;9642260;9432981;9374458;9020361;8837778;18724939;18634786;18347055;18299187;18164316;17942533;18326498;18180283;11259596;21460221;22590573;20512936;12296995;16344560;8889548;10022904;12787561;12843241;14960584;14982987;15147900;15276183;15721744;16286467;16378096;16382137;16630834;16697380;16874300;16997282;17047224;17124500;17986144;19465916;19549727;19592497;19675569;19713527;19716405;19773279;19786094;19825828;19879840;19898481;19996094;20047764;20056178;20079715;20097753;20237496;20331378;20449947;9252186;9575168;11287640;18029348;20568250;20813000;21048031;20542134;21078302;20410276;16252010;20529958;20644648;16543409;20932475;16914100;20634198;21041452;19913121;20588308;20628086;20677014;17277779;21832049;22736025;21220427;21185369;15953362;17709375;22231568;12917689;19937093;21127049;19521662;22644879;21557901;17544371;19810754;17314283;20501938;21113135;21183682;21625535;21805090;17562858;14702098;22901274;21629263;21312055;22033216;22326918;15334086;17562285;19201866;19586614;19903815;20043910;21896478;21911421;21911935;21813202;22303480;19592251;19683680;21454471;21903422;21940676;21980489;22029577;22033459;22095711;15836773;18952891;20080758;21068390;21435586;21703539;21725320;21909504;22513239;22656185;22886393;23013936;23478027;16246731;20622874;21139048;21906983;23017601;23608757;23707529;23717208;23776175;23799152;23818111;21412053;22140520;14625308;15340068;17449468;18246070;18329614;18345001;22447928;12242293;16115877;22908223;17327397;17720800;17728323;17878343;19843958;20614026;22011580;22719861;22863753;12637493;15870274;15917247;16024789;16951688;17785851;19166926;19176615;19795416;21041727;21097508;22493164;22851693;9500555;9718306;17948050;22593207;23055197;23105109;23172226;23185365;23244239;23264041;23322406;23365429;23381138;17197697;23514740;23524849;23564640;23575687;18977328;20628368;20676093;21988832;23399697;23437331;23524951;22450746;11435475;12220533;18625728;19232515;19234489;20064081;20138174;21886773;22323536;22589256;22643835;22851696;23018911;23042151 7189 Q9Y4K3 ABBA01060846;ABBA01060847;AC009656;AC061999;AK128396;AK292978;AMYH01003495;AMYH01003496;AY228337;BC031052;BI463192;BQ187062;CH471064;DA855021;NM_004620;NM_145803;U78798 AAB38751;AAH31052;AAO38054;ABM82135;ABM85318;BAF85667;EAW68119;EAW68120;EAW68121;EAW68122;NP_004611;NP_665802;Q9Y4K3 Hs.444172;Hs.591983 1674944;1798294;1847768;5117897 GDB:631813;TRAF6_2442;WI-17696;WI-21989 MGC:3310;RNF85 E3 ubiquitin-protein ligase TRAF6;OTTHUMP00000232772;OTTHUMP00000232773;RING finger protein 85;TNF receptor-associated factor 6;interleukin-1 signal transducer APPROVED protein-coding 12036 03833 602355 REVIEWED 1604273 TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004] 16 16 16 p13.3 2420218 2442550 + 2145800 2168131 + 2205799 2228130 + 6480464 14743216;15001576;15489334;14702039;12477932;11230166;16230348;20201926;19549727;23348505;18029348;21518757;22105767;21903422;21139048;21890473;21906983;22219201 84231 B3KQY7;H3BR17;H3BUP4;Q6Q0C0 ABBA01030271;AC009065;AK090624;AL136921;AMYH01007052;AMYH01007053;AW245178;AY569455;BC024267;CH471112;NM_032271 AAS68363;BAG52199;CAB66855;EAW85546;EAW85547;EAW85548;EAW85549;NP_115647;Q6Q0C0 Hs.713632 1850494;2142045;2146419;5124603 RH71168;RH93955;SGC31214;SHGC-61344 DKFZp586I021;MGC7807;RFWD1;RNF119 E3 ubiquitin-protein ligase TRAF7;OTTHUMP00000159043;RING finger and WD repeat-containing protein 1;RING finger protein 119;ring finger and WD repeat domain 1 APPROVED protein-coding ENSG00000131653 20456 06977 606692 VALIDATED 1314990 TRAM1L1 translocation associated membrane protein 1-like 1 4 4 4 q26 115296907 115298933 - 118224158 118226184 - 118004710 118006736 - 737633;1580863;6480464 12477932 16344560;16303743;14749390;19553259;20332099;22589738 133022 Q8N609 ABBA01063865;AC093805;AK074617;AMYH01014479;BC030831;BX423039;CA415689;CH471057;DB099839;NM_152402 AAH30831;BAC11091;EAX06312;NP_689615;Q8N609 Hs.570737 2125983 RH65481 MGC26568 OTTHUMP00000163898;translocating chain-associated membrane protein 1-like 1 protein-coding ENSG00000174599 28371 11643 VALIDATED 1605702 TRAFD1 TRAF-type zinc finger domain containing 1 The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009] 12 12 12 q 112188835 112216894 + 111047764 111075795 + 112563349 112591408 + 6480464 16221674;18849341;17554300;17081983;16964243;16565220;15489334;15302935;12477932;8889548;19862010;16196087;18781797;21942715;21987572;21139048;21890473;21906983;22505724 10906 B4DI89;F8VNX8;F8VVF3;F8VWK2;F8VZ11;O14545 AB007447;ABBA01019919;AC073575;AK122620;AK291331;AK295474;AK309916;AK312601;AMYH01004754;BC003553;BG828961;CA314188;CH471054;NM_001143906;NM_006700 AAH03553;ABM83456;ABM86667;BAA22541;BAF84020;BAG58401;EAW97995;EAW97996;EAW97997;NP_001137378;NP_006691;O14545 Hs.5148 1648910;1736280;1739397;1782648;2110987;2163702;2181974;5091263;5092996;5114892 A002Y44;A006C17;A009D45;D12S1234E;D12S275E;D1S2331E;G32459;L17746;RH64950;SHGC-149403 FLN29 FLN29 gene product;OTTHUMP00000241760;TRAF-type zinc finger domain-containing protein 1 APPROVED protein-coding ENSG00000135148 24808 10994 613197 VALIDATED 7245816 TRAM2-AS1 TRAM2 antisense RNA 1 (head to head) 14702039 401264 AA730121;ABBA01050553;AK095117;AL049611;AMYH01016352;BE741421;CX787946;DB479639;NR_103446;NR_103447;XR_108662;XR_112874;XR_171579 Hs.544586 1651448;1735614 D6S1218E;SHGC-53728 miscrna 48663 VALIDATED 1601884 TRAIP TRAF interacting protein This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008] 3 3 3 p21.31 49831372 49859800 - 49841032 49868996 - 49866028 49893992 - 6480464 9104814;18200509;15489334;14676304;12477932;9671805;8125298;17207965;19549727;19690564;17474147;19151749;20307617;21068752;23105109;21832049;17544371;18029348;21906983;22145905;22318606;22493164;22945920 10293 E7EN91;E7ETV1;E7EVC4;E7EW89;Q9BWF2 AB451320;AB451449;ABBA01024571;ABBA01024572;AC139451;AK225873;AK292172;AK295780;AMYH01013162;AMYH01013163;BC000310;BC019283;BQ446539;BX473682;CH471055;EF036504;NM_005879;U77845 AAB52993;AAH00310;AAH19283;ABO65090;ADQ32655;BAF84861;BAG58603;BAG70134;BAG70263;EAW65025;EAW65026;NP_005870;Q9BWF2 Hs.517972 1665869;1672186;1747829;1784710;2172395 G65744;RH11809;SHGC-149851;WI-13434;WI-15318 RNF206;TRIP OTTHUMP00000212706;OTTHUMP00000212709;TRAF-interacting protein;ring finger protein 206 APPROVED protein-coding ENSG00000183763 30764 05811 605958 REVIEWED 2937319 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 3 3 3 p22.2 36811078 36929308 - 36843315 36877415 - 36868308 36986548 - 6480464 10737800;14702039;15146197;9205841;21926972;22182935;21282530;23092984 9881 B7WP88;O15050 AB002340;ABBA01024861;ABBA01024862;ABBA01024863;ABBA01024864;ABBA01024865;ABBA01024866;AC011816;AC097360;AC105749;AK096678;AMYH01013083;BG750754;BG960452;BQ024165;BX956692;CD698859;CN313593;CN482191;EG328357;EG328358;NM_014831 BAA20800;BAC04838;NP_055646;O15050 Hs.170999 1660517;1712286;1714053;1738923;2124115;2165466;2167037 D3S3189;D3S3430;D3S3436;D3S4036;G54052;RH119458;STS-AA026362 KIAA0342;LBA1 OTTHUMP00000222365;TPR and ankyrin repeat-containing protein 1;lupus brain antigen 1 homolog protein-coding ENSG00000168016 29011 PROVISIONAL 1352646 TRAK2 trafficking protein, kinesin binding 2 2 2 2 q33 195993770 196068264 - 201950175 202024499 - 202241930 202316319 - 1580863;6480464 15644324;12034717;19103291;16895905;16835241;16630562;16380713;16344560;15489334;14702039;12477932;12435728;12107410;11161814;10964520;9628581;19913121;20628086;20230862;19322201;23395375 66008 E7EV21;O60296;Q53RS6 AB011121;AB038951;AB038964;ABBA01062539;AC007256;AC007282;AC080069;AK054763;AK314384;AL832573;AMYH01011403;BC017999;BC040668;BC041330;BC048093;CA396280;CH471063;DA314514;DA414989;DA575492;NM_015049 AAH17999;AAH40668;AAH41330;AAH48093;AAX93196;AAY24227;ACE86977;ACE87666;ADZ15617;BAA25475;BAB32501;BAB32550;BAB70803;CAD89935;EAW70271;EAW70272;NP_055864;O60296 Hs.152774 1644579;1645559;1685353;1728851;1734904;1734950;2154240;2154242;2166077;2172463 A005S03;D2S1622E;D2S1678E;D2S1706E;D2S1985;G20458;G54455;RH91268;SGC31954;SHGC-37476 ALS2CR3;CALS-C;GRIF-1;GRIF1;KIAA0549;MILT2;OIP98 O-linked N-acetylglucosamine transferase interacting protein 98;OTTHUMP00000163722;amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3;amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein;gamma-aminobutyric acid(A) receptor-interacting factor;milton homolog 2;trafficking kinesin-binding protein 2 protein-coding ENSG00000115993 13206 09547 607334 VALIDATED 1346981 TRAM1 translocation associated membrane protein 1 This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009] 8 8 8 q13.3 67483078 67518322 - 71648227 71683158 - 71485453 71520694 - 1580863;6480464;6907045 18555783;1315422;17081983;16565220;15489334;12721283;12477932;9512475;12612084;20588308;1315419;19121997;19423540;20331378;20406964;20438785;21832049;21139048;21890473;21906983;11014206;19322201;21103663;23247143 23471 B4E0K2;E5RFP8;G3XAN4;Q15629;Q6FHL3 AA740941;ABBA01041941;AC022731;AC120194;AF130055;AF274933;AK289397;AK292777;AK303411;AMYH01018782;BC000687;BC020283;BC032018;BC037738;BI465346;BT007359;CH471068;CR541654;CR541739;DB448315;NM_014294;X63679 AAG35483;AAH00687;AAH37738;AAP36023;ABM83614;ABM86858;BAF82086;BAF85466;BAG64464;CAA45218;CAG46455;CAG46539;EAW86966;EAW86967;EAW86968;NP_055109;Q15629 Hs.491988 1725745;2124412;2163050;2183743;5021435 G62123;RH48759;SHGC-2593;SHGC-58238;STS-N52135 PNAS-8;PNAS8;PRO1292;TRAM;TRAMP OTTHUMP00000226687;OTTHUMP00000226688;translocating chain-associated membrane protein 1;translocating chain-associating membrane protein;translocation-associating membrane protein 1 APPROVED protein-coding ENSG00000067167 20568 05545 605190 REVIEWED 1604830 TRAK1 trafficking protein, kinesin binding 1 3 3 3 p22.1 42072033 42206607 + 42107750 42242272 + 42132746 42267382 + 6480464 15644324;18986759;18675823;16630562;16381901;16380713;15851553;15489336;15489334;15231748;14702039;12724313;12477932;12435728;11230166;11076863;10470851;20230862;20379614;21822266;19528298;17043677;21573901;16344560;8889549;22589738;22094256;23395375;19135897 22906 B7Z218;B7ZAE5;C9JC32;F8WDH2;H7C3T3;J3KNT7;Q9UPV9 AA534633;AB028965;ABBA01024771;ABBA01024772;ABBA01024773;AC018358;AC093414;AK000754;AK023962;AK294221;AK295480;AK295848;AK316260;AL713787;AMYH01013110;AMYH01013111;AW157246;BC015922;BF527591;BG285410;BX647199;CD722736;CH471055;DA193280;H05058;NM_001042646;NM_001265608;NM_001265609;NM_001265610;NM_014965 AAH15922;ABZ92518;BAA82994;BAH11704;BAH12083;BAH12201;BAH14631;CAH56169;CAH56394;CAL37451;CAL38473;EAW64638;EAW64639;EAW64640;EAW64641;EAW64642;NP_001036111;NP_001252537;NP_001252538;NP_001252539;NP_055780;Q9UPV9 Hs.535711 1338635;1669406;1672074;1687233;1761765;2109597;2166290;2181638;2181745;5096423 D3S3393;D3S3563;D3S3827;OIP106_9283;RH12755;RH91106;SHGC-145728;SHGC-53801;SHGC-76856;WI-15128 MILT1;OIP106 106 kDa O-GlcNAc transferase-interacting protein;O-linked N-acetylglucosamine transferase interacting protein 106;OGT(O Glc NAc transferase) interacting protein 106 KDa;OGT(O-Glc-NAc transferase)-interacting protein 106 KDa;OTTHUMP00000162606;OTTHUMP00000197001;OTTHUMP00000209370;OTTHUMP00000209384;milton homolog 1;trafficking kinesin-binding protein 1 protein-coding ENSG00000182606 29947 09732 608112 VALIDATED 5686922 TRAPPC12-AS1 TRAPPC12 antisense RNA 1 p25.3 100861515 AC114810;BG683264 Hs.632518 APPROVED miscrna 41046 1345669 TRAM2 translocation associated membrane protein 2 TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004] 6 6 6 p21.1-p12 54023355 54102971 - 52470159 52549821 - 52362200 52441862 - 1580863;6480464 19240061;16344560;15489334;14749390;14612417;14574404;12477932;10594243;8889549;7698749;7584044;20379614;9631292;16751776;21697133;19322201 9697 Q15035 AA044636;AB621814;ABBA01050553;ABBA01050554;ABBA01050555;AK291751;AK311560;AL049611;AMYH01016351;AMYH01016352;AU140711;BC016804;BC028121;BG323472;BG821383;CF264873;CH471081;CK000467;D31077;D31762;H59725;NM_012288 AAH28121;ABM81994;ABM85176;BAA06540;BAF84440;BAK64150;EAX04373;EAX04374;EAX04375;NP_036420;Q15035 Hs.520182 1664429;1680317;1685159;1694184;1707322;1712625;1725807;1735614;1794662;1848734;1858323;2135089;2138527;2138614;2139323;2173595;5037552 AL035185;D6S1218E;D8S2279;G29821;G61990;PMC344171P2;RH120163;RH1520;RH16461;RH25291;RH37396;RH69542;RH75334;SHGC-34262;SHGC-37721;SHGC-79269;STS-H72851 KIAA0057 OTTHUMP00000016607;TRAM-like protein;translocating chain-associated membrane protein 2 APPROVED protein-coding ENSG00000065308 16855 16338 608485 REVIEWED 1343529 TRAPPC12 trafficking protein particle complex 12 2 2 2 p25.3 3434749 3536856 + 3362453 3462349 + 3383446 3483342 + 737633;1580863;6480464 12477932 15489334;14702039;10810093;21525244;20562859;20379614;21890473;23251661;22505724 51112 F8WCB4;H0Y550;H7C0K3;H7C0T3;H7C185;H7C1E5;H7C1M4;H7C2F7;H7C373;Q8N9N0;Q8WVT3 ABBA01013722;ABBA01013723;AC073502;AC114810;AF151845;AK094181;AK094242;AK098327;AK125105;AK126524;AMYH01010069;BC014164;BC017475;BQ954367;BU782660;CH471053;NM_016030 AAD34082;AAH14164;AAH17475;AAY24021;AAY24194;BAC04301;BAG52848;BAG53613;EAX01067;EAX01068;EAX01069;NP_057114;Q8WVT3 Hs.252713 1337470;1687800;1725629;1734256;2109999;2120450;7186185 D2S1503E;D2S319;G62096;RH65207;RH92776;TTC15_9666 CGI-87;FLJ36862;FLJ44560;TTC-15;TTC15 OTTHUMP00000115379;OTTHUMP00000115380;OTTHUMP00000199991;TPR repeat protein 15;tetratricopeptide repeat domain 15;tetratricopeptide repeat protein 15;trafficking protein particle complex subunit 12 APPROVED protein-coding ENSG00000171853 24284 15580 614139 VALIDATED 1604800 TRAPPC11 trafficking protein particle complex 11 The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013] 4 4 4 q35.1 181913550 181967765 + 184817440 184871739 + 184580420 184634747 + 6480464 16381901;15489336;14702039;12477932;11230166;11076863;21525244;16169070;19942856;20308539;20562859;15174051;23000965;22990118;16344560;21890473;22669257 60684 D6R9T9;D6RHE5;Q9H8Q1 ABBA01070506;AC108477;AI034264;AK022778;AK023390;AK026992;AK090489;AK091146;AK096345;AK315057;AL133076;AL136752;AL833451;AL833571;AMYH01014763;BC022185;BC040530;BC051724;BC139745;BX538044;BX647127;BX648499;CH471056;CR533553;DB096222;NG_033102;NM_021942;NM_199053 AAH51724;AAI39746;BAB14240;BAB14556;BAB15617;BAG37533;BAG52291;BAG53267;CAB66686;CAD91169;CAD97983;CAG38584;CAL38681;EAX04686;EAX04687;NP_068761;NP_951008;Q7Z392 Hs.443240 1656986;1667691;1684194;1699032;1853618;2179391;2179987 D20S722;RH103089;RH93417;SHGC-24812;SHGC-44350;SHGC-50562;SHGC-67766 C4orf41;FLJ12716;FOIGR;GRY;LGMD2S OTTHUMP00000218691;OTTHUMP00000218693;UPF0636 protein C4orf41;foie gras;foie gras homolog;gryzun homolog;hypothetical protein LOC60684;trafficking protein particle complex subunit 11 APPROVED protein-coding ENSG00000168538 25751 10968 614138;615356 REVIEWED 1322784 TRAPPC1 trafficking protein particle complex 1 This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] 17 17 17 p13.1 7861377 7863031 - 7774392 7775988 - 7833663 7835317 - 1580863;6480464 11805826;10582700;16828797;15489334;12477932;16341674;8889548;15749823;21890473;21906983;23000965;21525244 58485 I3L1R8;I3L3S0;I3L3V5;Q9Y5R8 ABBA01054890;AC104581;AF129332;AK314038;AMYH01008086;AW964727;BC025413;BC032717;BI457771;BI600633;BM762006;BU687854;BU940685;CH471108;NG_029754;NM_001166621;NM_021210;NR_030684;NR_030697 AAD44697;AAH32717;ABM81786;ABM84941;BAG36747;EAW90109;EAW90110;EAW90111;NP_001160093;NP_067033;Q9Y5R8 Hs.24379 1856326;2189419;2189447;5021706 MARC_5489-5490:991939649:1;MARC_6307-6308:992007230:1;WI-18598;ksks299 BET5;MUM2 BET5 homolog;MUM-2;OTTHUMP00000135311;melanoma ubiquitous mutated 2;multiple myeloma protein 2;trafficking protein particle complex subunit 1 APPROVED protein-coding ENSG00000170043 19894 18219 610969 REVIEWED 3207731 TRAPPC2P10 trafficking protein particle complex 2 pseudogene 10 Y Y q11.223 24518566 24526332 - 26109178 26116944 - 414752 AC073893;NG_004755 2188909;5116370 G65968;sY2929 TRAPPC2P5B pseudo 37732 VALIDATED 1347454 TRAPPC2P2 trafficking protein particle complex 2 pseudogene 2 8 8 8 q13.3 68357983 68358512 - 72523394 72524129 - 72360946 72361475 - 11031107 27196 ABBA01041946;AC099805;AMYH01018784;NG_005354 SEDLP2 pseudo 10711 INFERRED 1349223 TRAPPC2P3 trafficking protein particle complex 2 pseudogene 3 Y Y q11.23 18417459 18422092 - 19908065 19912698 - 11031107;9847074 27195 AC007742;NG_004636 2188607 G66349 SEDLP3 pseudo 10712 VALIDATED 1352504 TRAPPC2P4 trafficking protein particle complex 2 pseudogene 4 Y Y q11.23 26459932 26470747 + 28050544 28061359 + 11031107;9847074 27194 AC007965;NG_004755 SEDLP4 pseudo 10713 VALIDATED 1322626 TRAPPC10 trafficking protein particle complex 10 The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008] 21 21 21 q22.3 30537856 30632073 + 44256634 44350861 + 45432206 45526433 + 1580863;6480464 7633421;9196060;15489334;15302935;14702039;12477932;11805826;10830953;9370297;9205129;8889548;8753807;20424473;17207965;23022380;22939629;21525244 7109 F8WE24;P48553;Q86SI7 AB001517;AB001523;ABBA01074151;ABBA01074152;AK095010;AK295369;AK300912;AK303570;AL559301;AL833668;AMYH01012287;BC046241;BC052247;BC071569;BC094823;BC101728;BF979287;BG058078;BM988257;BU733895;BX370317;CH471079;NG_008658;NM_003274;U19252;U61500;U61520 AAB58468;AAC50134;AAC51826;AAH46241;AAH52247;AAH94823;AAI01729;ADQ32048;BAA21099;BAA21136;BAG58329;BAG62546;BAG64591;CAI46146;EAX09459;NP_003265;P48553 Hs.126221 EHOC-1;EHOC1;FLJ54223;FLJ54817;FLJ55683;GT334;MGC126777;TMEM1;TRS130;TRS30 OTTHUMP00000109489;TRAPP 130 kDa subunit;TRAPP subunit TMEM1;epilepsy holoprosencephaly candidate 1 protein;epilepsy holoprosencephaly candidate-1 protein;trafficking protein particle complex subunit 10;trafficking protein particle complex subunit 130;trafficking protein particle complex subunit TMEM1;transmembrane protein 1;transport protein particle subunit TMEM1 APPROVED protein-coding ENSG00000160218 11868 03656 602103 REVIEWED 1343827 TRAPPC2P5 trafficking protein particle complex 2 pseudogene 5 Y Y q11.23 26254864 26262630 + 27845476 27853242 + 11031107;9847074 27193 AC010682;NG_004755 2188909;5116370 G65968;sY2929 SEDLP5 pseudo 10714 VALIDATED 1601872 TRAPPC2P7 trafficking protein particle complex 2 pseudogene 7 Y Y q11.23 19275330 19277451 - 20815942 20818063 - 11031107;9847074 392597 AC022486;AC084354;NG_004636 2181405 SHGC-13965 SEDLP7 pseudo 10716 VALIDATED 3207730 TRAPPC2P9 trafficking protein particle complex 2 pseudogene 9 Y Y q11.223 24310405 24321220 - 25901017 25911832 - 414753 AC016752;NG_004755 TRAPPC2P4B pseudo 37733 VALIDATED 3207732 TRAPPC2P8 trafficking protein particle complex 2 pseudogene 8 Y Y q11.221 18726466 18731099 + 20267078 20271711 + 9847074 414751 AC024183;NG_004636 2188607 G66349 TRAPPC2P3B pseudo 37731 VALIDATED 1346837 TRAP1 TNF receptor-associated protein 1 This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 16 16 p13.3 3648039 3707599 - 3708038 3767598 - 1580863;6480464 21979464;7876093;19490362;19217207;18815895;18790094;18287101;18091755;17853063;17579517;16927372;16482509;16269234;15489334;15292218;14702039;12477932;11278302;10652318;10545594;9545258;8756626;8125298;19019082;12234937;19913121;20471161;20628086;20647321;20877624;20499060;16551573;19948822;9312071;21832049;21878357;22939629;22863883;23273922;23455922;16196087;20000738;21381076;21875946;21252943;21338643;15852347;18781797;20360068;21081666;22178446;21139048;21890473;22145905;22319455;21145461;19738201;19805454;21988832;22904065;23319000;17203973;21853274;20391533;22978347;23284813 10131 B4DR68;F5H897;I3L0K7;I3L0P6;I3L239;I3L253;I3L2D5;I3L3L4;I3L4L7;Q12931;Q53FS6 AB209805;ABBA01026745;ABBA01026746;ABBA01026747;ABBA01026748;ABBA01026749;AC005203;AC006111;AF043254;AF154108;AJ890085;AK057620;AK093344;AK223049;AK223076;AK223205;AK299127;AMYH01007095;BC000406;BC001455;BC002994;BC018950;BC023585;CH471112;DB452880;JX481354;NG_033088;NM_001272049;NM_016292;U12595 AAA87704;AAC02679;AAC24722;AAF15314;AAH01455;AAH18950;AAH23585;ABM84402;ABM87345;AFS69159;BAC04139;BAD93042;BAD96769;BAD96796;BAD96925;BAG51942;BAG61180;CAI64498;EAW85338;EAW85339;EAW85340;EAW85341;EAW85342;NP_001258978;NP_057376;Q12931 Hs.30345 1341614;1688702;1699416;1738867;1745581;1791111;1791113;2177710;5111028;5126235 D16S2622;D16S2907;D16S2942;GDB:624544;RH103299;RH45732;RH68351;SHGC-60637;csnpdnase1-pcr7-1;csnpdnase1-pcr8-1 HSP 75;HSP75;HSP90L;TRAP-1 HSP 75;OTTHUMP00000159796;TNFR-associated protein 1;TRAP-1;heat shock protein 75 kDa, mitochondrial;tumor necrosis factor type 1 receptor associated protein;tumor necrosis factor type 1 receptor-associated protein APPROVED protein-coding ENSG00000126602 16264 05868 606219 REVIEWED 1604619 TRAPPC2L trafficking protein particle complex 2-like 16 16 16 q24.3 73992097 73996111 + 87451007 87455021 + 88923506 88927520 + 6480464 16344560;16189514;12477932;11042152;19416478;21453443;21832049;18029348;21906983;21890473;23000965;21525244 51693 H3BP13;H3BPE0;H3BPN3;H3BPS1;H3BQQ8;H3BUK6;Q9UL33 ABBA01013588;AC092384;AF089106;AF161524;AK126779;AK307253;AK310805;AK311885;AMYH01007916;AX771012;AX771013;AX771014;BC011369;BC017440;BC018024;BC105809;CH471184;DA293122;NG_008667;NM_016209 AAF00568;AAF29139;AAH11369;AAH18024;AAI05810;BAC86686;BAG34826;CAE01175;CAE01176;CAE01177;EAW66756;NP_057293;Q9UL33 Hs.461722 1698332;1744753;1847445 GDB:556702;RH102707;STS-AA035228 FLJ44827;HSPC176;MGC111156 OTTHUMP00000175192;hematopoietic stem/progenitor cells 176;trafficking protein particle complex subunit 2-like protein protein-coding 30887 13711 610970 VALIDATED 1605046 TRAPPC13 trafficking protein particle complex 13 5 5 5 q12.3 61919011 61960412 + 64956314 64997710 + 64920558 64961954 + 6480464 16344560;15489334;14702039;12477932;8889548;21453443;21139048;21890473;21906983;22505724 80006 A5PLN9;D6RB83;F5GXC3;H0YBF8 ABBA01048328;ABBA01048329;AC008560;AK023673;AK130467;AL713699;AMYH01015134;AMYH01015135;BC012006;BC047475;BC117128;BC142994;BC143691;BC143693;BE222610;BM664695;BX641157;CD105043;CH471137;DA903408;DB145758;DQ088673;N67829;NM_001093755;NM_001093756;NM_001243737;NM_024941;NR_003545 A5PLN9;AAH47475;AAI17129;AAI42995;AAI43692;AAI43694;AAY88966;BAB14633;BAC85360;CAD28498;CAE46070;EAW51343;EAW51344;EAW51345;EAW51346;EAW51347;EAW51348;NP_001087224;NP_001087225;NP_001230666;NP_079217 Hs.591760 1646543;1666933;1675371;1700074;1849642;1853500;1857243;5022200;5022578 D1S1423;L18426;RH103650;RH69234;RH69897;RH80948;SHGC-57573;STS-N23147;STS-R61558 C5orf44;FLJ13611;FLJ26957;MGC48585 OTTHUMP00000222554;OTTHUMP00000222555;OTTHUMP00000222556;OTTHUMP00000222557;OTTHUMP00000222558;Trs65-related;UPF0533 protein C5orf44;hypothetical protein LOC80006;trafficking protein particle complex subunit 13 APPROVED protein-coding ENSG00000113597 25828 07832 VALIDATED 1351912 TRAPPC2P1 trafficking protein particle complex 2 pseudogene 1 This gene has been described as a transcribed retropseudogene (or retro-xaptonuon) based on its structure which lacks most of the introns of SEDL and the detection of transcripts from this locus. Most retropseudogenes are thought to not express protein products. A protein product could potentially be encoded by this retropseudogene that would be identical to the protein product of the SEDL gene. However, it remains unclear whether this gene encodes a protein product or is a transcribed retropseudogene. [provided by RefSeq, Jul 2008] 19 19 q13.4 54918588 54920430 + 57874879 57876721 + 6480464 14597397;12939648;12935876;12700240;12477932;11181995;11134351;11031107;16189514;10431248;11805826 10597 ABBA01020812;AC003002;AF058918;AF291676;AMYH01010027;BC008889;BC032809;BF984818;BU556832;CH471135;CR456859;NR_002166 AAC14421;CAG33140;EAW72495;EAW72496;P0DI82 Hs.446620 1858448 RH18335 MIP-2A;SEDLP;SEDLP1 APPROVED pseudo ENSG00000256060 10710 PROVISIONAL 1352017 TRAPPC7 trafficking protein particle complex 7 373174 23070 1346606 TRAPPC8 trafficking protein particle complex 8 373175 1681024;1686698;1703594;2164816 RH39240;RH48001;SHGC-32604;SHGC-64753 23071 614136 1350228 TRAPPC2 trafficking protein particle complex 2 The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] X X p22 13640282 13662648 - 13730361 13752754 - 6480464;7240710 11134351;11805826;10431248;19002213;18393234;18247296;16344560;15952107;15772651;15489334;15300622;15221797;15146197;14702039;14597397;12939648;12919139;12681486;12579492;12477932;12123495;12030902;11595175;11424925;11349230;12650905;11031107;8889548;8733060;8401585;20498720;19417549;19615732;19766614;20108251;20301324;21827752;21858081;21890473;19322201;23019651;21525244 6399 E5RFG0;F5H785;G1K394;P0DI81;P0DI82;Q6IBE5 AA351319;AA770629;ABBA01071129;ABBA01071130;ABBA01071131;ABBA01071132;AC003037;AF157060;AF157061;AF157062;AF157063;AF157064;AF157065;AK055671;AK098253;AK310542;AK313736;AMYH01022096;AV763683;BC016915;BC052618;BG033605;BI821518;BM931610;BX112362;CB962763;CD698535;CH471074;CN430081;DA344866;DA350753;DA542477;NG_011555;NM_001011658;NM_001128835;NM_014563 AAD49845;AAH16915;AAH52618;ABM82434;ABM85624;ABM85625;ACE86743;ACE87429;BAG36477;EAW98829;EAW98830;EAW98831;EAW98832;EAW98833;EAW98834;NP_001011658;NP_001122307;NP_055378;P0DI81 Hs.592238;Hs.622292 1653859;1659245;1681766;5015879;5020948;5022200;5022578;5037552;5118444;5118576 D11S3316;D11S3430;D1S1423;D8S2279;DXS7729;G35510;GDB:314949;L18426;RH65861;RH70767 MIP-2A;MIP2A;SEDL;SEDT;TRAPPC2P1;TRS20;ZNF547L;hYP38334 MBP-1 interacting protein-2A;MBP-1-interacting protein 2A;OTTHUMP00000022938;OTTHUMP00000225889;OTTHUMP00000225890;OTTHUMP00000225892;sedlin;trafficking protein particle complex subunit 2 APPROVED protein-coding ENSG00000196459 23068 02189 300202;313400 REVIEWED 1348300 TRAPPC4 trafficking protein particle complex 4 11 11 11 q23.3 116046377 116052437 + 118394451 118399592 + 118889241 118894384 + 1580863;6480464;6484113 17110339;11018053;18466758;15489334;12477932;11805826;11042152;10810093;8125298;16169070;20035503;21832049;21826244;21987572;21139048;21906983;21963094;21525244;22505724 51399 B4DME1;E9PKS9;E9PN70;E9PQE8;G3V1A0;G5EA23;J3KP27;Q9Y296 ABBA01039681;AF078862;AF105025;AF151862;AF161520;AK025623;AK290520;AK293914;AK293977;AK297422;AMYH01004080;AP003392;BC010866;CH471065;NM_016146 AAD34099;AAD44494;AAF21897;AAF29135;AAH10866;BAF83209;BAG57297;BAG57347;BAG59853;EAW67430;NP_057230;Q9Y296 Hs.132760 1655794;1731239;1768199;2149757;2171661;7184772 D11S456;D11S4686;RH70303;SHGC-33190;WI-20793 CGI-104;HSPC172;PTD009;SBDN;SYNBINDIN;TRS23 OTTHUMP00000232701;OTTHUMP00000232702;OTTHUMP00000232704;OTTHUMP00000232705;OTTHUMP00000232706;TRS23 homolog;hematopoietic stem/progenitor cell protein 172;trafficking protein particle complex subunit 4 protein-coding 19943 18220 610971 VALIDATED 1601965 TRAPPC6A trafficking protein particle complex 6A This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 19 19 19 q13.32 42470448 42485747 - 50358026 50373325 - 45666186 45681501 - 6480464 16697553;16262728;16189514;15489334;15057824;12477932;19197348;15146197;18930054;21482742;21766012;21525244 79090 B7TZ90;O75865 ABBA01040912;AC005757;AF161407;AMYH01009849;BC001907;BC004450;BI462720;CH471126;CN256686;CN256687;FJ418644;NG_033044;NM_001270891;NM_001270892;NM_001270893;NM_024108 AAC62259;AAF28967;AAH01907;AAH04450;ACJ50530;EAW57326;EAW57327;EAW57328;EAW57329;NP_001257820;NP_001257821;NP_001257822;NP_077013;O75865 Hs.466929 2118672;5113246 RH98840;STS-AA025567 HSPC289;MGC2650;TRS33 TRAPP complex subunit 6A;TRAPPC6Adelta29-42;trafficking protein particle complex subunit 6A APPROVED protein-coding ENSG00000007255 23069 14503 610396 REVIEWED 1350032 TRAV1-1 T cell receptor alpha variable 1-1 14 21159897 21160599 + 28693 AE000658 12101 1353370 TRAV1-2 T cell receptor alpha variable 1-2 14 21181033 21181646 + 28692 AE000658 12102 1353552 TRAV10 T cell receptor alpha variable 10 14 21363512 21364079 + 28676 AE000659 2129038 G36229 12103 1345046 TRAV11 T cell receptor alpha variable 11 (pseudogene) 14 14 14 q11 2161270 2161801 + 21367532 21368063 + 22297692 22298223 + 8188290 28675 ABBA01061266;AE000521;AE000659;AMYH01005596;NG_001332 TCRAV11S1 APPROVED pseudo 12104 VALIDATED 1349893 TRAV12-1 T cell receptor alpha variable 12-1 14 21379265 21379796 + 28674 AE000659 12105 1352006 TRAV12-2 T cell receptor alpha variable 12-2 14 21425979 21426522 + 28673 AE000659 1342230 D14S50 12106 1343077 TRAV12-3 T cell receptor alpha variable 12-3 14 21503576 21504130 + 28672 X06193 12107 1348286 TRAV13-1 T cell receptor alpha variable 13-1 14 21406883 21407386 + 28671 AE000659 2157668 RH70886 12108 1350924 TRAV13-2 T cell receptor alpha variable 13-2 14 21456273 21456771 + 28670 AE000659 12109 1347572 TRAV14DV4 T cell receptor alpha variable 14/delta variable 4 14 21462154 21462667 + 28669 M21626 12110 1345107 TRAV16 T cell receptor alpha variable 16 14 21528575 21529017 + 28667 AE000659 12112 1353574 TRAV15 T cell receptor alpha variable 15 (pseudogene) 14 14 14 q11 2281906 2282445 + 21488174 21488717 + 22418334 22418877 + 8188290 28668 ABBA01061267;AE000521;AE000659;AMYH01005596;NG_001332 TCRAV15S1 APPROVED pseudo 12111 VALIDATED 1319308 TRAPPC3 trafficking protein particle complex 3 This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 1 1 p34.3 36374760 36387654 - 36602170 36621654 - 1580863;6480464 16828797;16908848;16880271;18930054;21482742;16262728;16189514;15728249;15692564;15608655;15489334;14702039;12477932;11805826;9564032;9110174;8619474;21453443;18029348;22990118;21832049;21139048;21890473;21906983;21525244;22505724 27095 A6NKE1;O43617 AA446176;ABBA01023312;AC114484;AF041432;AJ224335;AK094755;AK315610;AMYH01000493;AY007139;BC007662;BG704657;BI462429;BI762992;BM451581;CB053319;CD251784;CH471059;CQ834606;HY104588;NM_001270894;NM_001270895;NM_001270896;NM_001270897;NM_014408;NR_073097;NR_073098;T26006 AAB96936;AAG02000;AAH07662;BAG37979;CAA11902;CAH05518;EAX07385;EAX07386;EAX07387;NP_001257823;NP_001257824;NP_001257825;NP_001257826;NP_055223;O43617 Hs.523131 1689205;1770735 RH80455;SHGC-57691 BET3 1110058K12Rik;BET3 homolog;OTTHUMP00000009025;OTTHUMP00000009027;OTTHUMP00000009028;trafficking protein particle complex subunit 3 APPROVED protein-coding ENSG00000054116 19942 11644 610955 REVIEWED 1348385 TRAV17 T cell receptor alpha variable 17 14 21535765 21536247 + 28666 AE000660 1783126 SHGC-171842 12113 1348530 TRAV18 T cell receptor alpha variable 18 14 21541290 21541752 + 28665 AE000660 12114 1351851 TRAV19 T cell receptor alpha variable 19 14 21545708 21546260 + 28664 AE000660 12115 1349078 TRAV20 T cell receptor alpha variable 20 14 21578749 21579239 + 28663 AE000660 1647900;1694764 D14S1325;G43587 12117 1342589 TRAV2 T cell receptor alpha variable 2 14 21250394 21250906 + 28691 AE000658 2129598 G36317 12116 1345782 TRAV21 T cell receptor alpha variable 21 14 21590620 21591155 + 28662 AE000660 12118 1319254 TRAPPC8 trafficking protein particle complex 8 18 18 18 q12.1 26216177 26330128 - 27663134 27777089 - 29409136 29523091 - 1580863;6480464 16344560;15345747;14702039;12477932;11805826;11230166;10727015;10231032;21453443;20562859;22990118;21139048;21890473;21906983;21858081;21525244 22878 J3KSL8;J3QKL6;J3QQJ5;J3QQS5;J3QR00;J3QSA1;Q9Y2L5 AA598869;AB023229;ABBA01022501;ABBA01022502;ABBA01022503;ABBA01022504;ABBA01022505;AC009831;AC022960;AK001662;AK292537;AL136749;AMYH01008925;AMYH01008926;AMYH01008927;BC059380;BC127109;BC127110;BX642999;CH471088;DA446379;NM_014939 AAH59380;AAI27110;AAI27111;BAA76856;BAF85226;BAG50957;CAB66683;EAX01271;EAX01272;EAX01273;EAX01274;EAX01275;EAX01276;NP_055754;Q9Y2L5 Hs.202001 GSG1;HsT2706;KIAA1012;MGC71660;TRS85 OTTHUMP00000163103;general sporulation gene 1 homolog;protein TRS85 homolog;trafficking protein particle complex subunit 8 APPROVED protein-coding ENSG00000153339 29169 10019 614136 VALIDATED 1348363 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 14 21624569 21625078 + 28660 AE000660 1745803 GDB:642137 12120 1343396 TRAV22 T cell receptor alpha variable 22 14 21608793 21609311 + 28661 AE000660 1682437 RH93874 12119 1353069 TRAV24 T cell receptor alpha variable 24 14 21643460 21643963 + 28659 AE000660 12121 1349708 TRAV25 T cell receptor alpha variable 25 14 21650216 21650824 + 28658 AE000660 12122 1349637 TRAV26-1 T cell receptor alpha variable 26-1 14 21661325 21662083 + 28657 AE000660 12123 1344253 TRAV26-2 T cell receptor alpha variable 26-2 14 21740317 21741102 + 28656 AE000660 12124 1344382 TRAV27 T cell receptor alpha variable 27 14 21685886 21686427 + 28655 AE000660 12125 1351669 TRAV28 T cell receptor alpha variable 28 (pseudogene) 14 14 14 q11 2486552 2487111 + 21692852 21693411 + 22623012 22623571 + 8188290 28654 ABBA01061271;AE000521;AE000660;AMYH01005597;NG_001332 TCRAV28S1 APPROVED pseudo 12126 VALIDATED 1346761 TRAV29DV5 T cell receptor alpha variable 29/delta variable 5 14 21701085 21701606 + 28653 AE000660 12127 1351724 TRAV3 T cell receptor alpha variable 3 14 21261976 21262408 + 28690 AE000658 1778369 RH65571 12128 1353427 TRAV30 T cell receptor alpha variable 30 14 21706165 21706724 + 28652 AE000660 12129 1346852 TRAV31 T cell receptor alpha variable 31 (pseudogene) 14 14 14 q11 2508708 2509299 + 21715010 21715601 + 22645170 22645761 + 8188290 28651 ABBA01061271;AE000521;AE000660;AMYH01005597;NG_001332 TCRAV31S1 APPROVED pseudo 12130 VALIDATED 1344861 TRAV32 T cell receptor alpha variable 32 (pseudogene) 14 14 14 q11 2516996 2517495 + 21723298 21723797 + 22653458 22653957 + 8188290 28650 ABBA01061272;AE000521;AE000660;AMYH01005597;NG_001332 TCRAV32S1 APPROVED pseudo 12131 VALIDATED 1347318 TRAV33 T cell receptor alpha variable 33 (pseudogene) 14 14 14 q11 2521590 2522146 + 21727892 21728448 + 22658052 22658608 + 8188290 28649 ABBA01061272;AE000521;AE000660;AMYH01005597;NG_001332 C14orf12;TCRAV33S1 APPROVED pseudo 12132 VALIDATED 1348642 TRAV34 T cell receptor alpha variable 34 14 21745270 21745865 + 28648 AE000660 12133 1354276 TRAV35 T cell receptor alpha variable 35 14 21759632 21760211 + 28647 AE000660 12134 1353711 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 14 21764497 21764989 + 28646 AE000660 1851546 RH70855 12135 1351446 TRAV38-1 T cell receptor alpha variable 38-1 14 21809694 21810286 + 28644 AE000661 12137 1348655 TRAV37 T cell receptor alpha variable 37 (pseudogene) 14 14 14 q11 2597164 2598588 + 21803472 21804896 + 22733632 22735056 + 8188290 28645 ABBA01061272;AE000521;AE000661;AMYH01005597;NG_001332 TCRAV37S1 APPROVED pseudo 12136 VALIDATED 1348109 TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 14 21818874 21819471 + 28643 AE000661 12138 1343518 TRAV39 T cell receptor alpha variable 39 14 21841779 21842278 + 28642 AE000661 1761551 SHGC-145547 12139 1344244 TRAPPC5 trafficking protein particle complex 5 19 19 19 p13.2 7616889 7618930 + 7651707 7653748 + 7745707 7747748 + 1580863;6480464 16341674;15489334;12477932;8889548;21163940;22939629;21139048;21890473;21906983;21525244;22505724 126003 M0QZQ8;Q8IUR0 ABBA01010892;AC008763;AK292001;AMYH01009412;BC022836;BC042161;BG528980;BI196928;BM841051;BU736689;CH471139;NM_001042461;NM_001042462;NM_174894 AAH42161;ADR82706;BAF84690;EAW69012;NP_001035926;NP_001035927;NP_777554;Q8IUR0 Hs.432413 2132952;2137157 RH41788;RH47627 MGC52424;TRS31 trafficking protein particle complex subunit 5 protein-coding ENSG00000181029 23067 VALIDATED 1319611 TRAPPC6B trafficking protein particle complex 6B TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008] 14 14 14 q21.1 19481624 19504242 - 38686766 38709385 - 39617015 39639634 - 6480464 16697553;16025134;15489334;14702039;12477932;17207965;21139048;21890473;21525244 122553 G3V2H7;G3V4C3;Q86SZ2 ABBA01061549;AK025437;AK056690;AK294339;AK310730;AK315900;AL109628;AL132639;AL833179;AMYH01005682;BC030604;BC047328;BX161510;BX248013;CH471078;NM_001079537;NM_177452 AAH47328;ADQ32975;BAF98791;BAG51784;BAG57609;CAD61947;CAD62341;CAI46185;EAW65821;EAW65822;EAW65823;EAW65824;NP_001073005;NP_803235;Q86SZ2 Hs.13303 1757583;2116167;2121770;2169642;2170416;2176301;2183871 G35539;RH11234;RH44741;SGC44285;SHGC-145046;SHGC-44285;WI-15625 FLJ17772;FLJ79549;TPC6 OTTHUMP00000178904;OTTHUMP00000178905;OTTHUMP00000244309;trafficking protein particle complex subunit 6B APPROVED protein-coding ENSG00000182400 23066 18221 610397 VALIDATED 1347845 TRAV5 T cell receptor alpha variable 5 14 21287314 21287829 + 28688 AE000659 12143 1349042 TRAV4 T cell receptor alpha variable 4 14 21274341 21275104 + 28689 AE000658 12140 1353137 TRAV41 T cell receptor alpha variable 41 14 21858460 21858963 + 28640 AE000661 12142 1351178 TRAV40 T cell receptor alpha variable 40 14 21852762 21853191 + 28641 X73521 12141 1347077 TRAV6 T cell receptor alpha variable 6 14 21306633 21307160 + 6956 Z49060 1745801 GDB:642127 12144 1351213 TRAV8-1 T cell receptor alpha variable 8-1 14 21335431 21335898 + 28685 AE000659 12146 1344609 TRAV7 T cell receptor alpha variable 7 14 21321050 21321560 + 28686 AE000659 12145 1344365 TRAV8-3 T cell receptor alpha variable 8-3 14 21390575 21391023 + 28683 AE000659 12148 1342558 TRAV8-2 T cell receptor alpha variable 8-2 14 21384784 21385243 + 28684 AE000659 12147 1354098 TRAV8-4 T cell receptor alpha variable 8-4 14 21432581 21433057 + 28682 AE000659 12149 1346443 TRAV8-5 T cell receptor alpha variable 8-5 (pseudogene) 14 14 14 q11 2234833 2236354 + 21441097 21442618 + 22371257 22372778 + 8188290 28681 ABBA01061267;AE000521;AE000659;AMYH01005596;NG_001332 TCRAV8S5;TRAV85 APPROVED pseudo 12150 VALIDATED 1343960 TRAV8-6 T cell receptor alpha variable 8-6 14 21516759 21517200 + 28680 X02850 12151 1347687 TRAV9-1 T cell receptor alpha variable 9-1 14 21349392 21350028 + 28678 AE000659 12153 1351670 TRAV8-7 T cell receptor alpha variable 8-7 14 21670355 21670836 + 28679 AE000660 12152 1345192 TRAV9-2 T cell receptor alpha variable 9-2 14 21479209 21479688 + 28677 AE000659 12154 1346311 TRBJ1-1 T cell receptor beta joining 1-1 7 142194692 142194739 + 28635 X00936 1673393 STS-K02545 12162 1348197 TRBD1 T cell receptor beta diversity 1 7 142194025 142194036 + 28637 X00936 12158 1350149 TRBD2 T cell receptor beta diversity 2 7 142203517 142203528 + 28636 X02987 12159 1349889 TRBC1 T cell receptor beta constant 1 7 142199506 142200953 + 1580863;6480464 28639 P01850 M12887 12156 1346475 TRBC2 T cell receptor beta constant 2 7 142208852 142210340 + 28638 A0A5B9 M12888 1694522;1694524;5107621 G43005;G43006;SHGC-35337 12157 735360 TRB T cell receptor beta locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008] 7 7 q34 141645314 142221097 + 141998851 142510972 + 6480464 2426193;11048639;11827988;15489916;17652306;19380806;19056690;18777093;18523312;18502180;18453566;18412309;18378792;18323803;18279372;18275829;17785774;17693403;17622942;17560605;17023417;16968899;16741518;16709873;16709841;16673021;16424183;16310048;15905344;15708895;15613535;15476487;15138733;14687707;14621425;12925207;12635936;12594835;12552422;12472659;12366778;12100034;12039522;11920559;11862389;11862388;11841483;11142503;11096259;8650574;8550092;6334238;6334237;3983641;3860845;3011602;2144610;9586631;20553737;20713881;19051206;19706884;19923469;20035823;20042591;12511607;21182840;20681514;21673345;21872828;21282516;21317385;21383244;22953050;23091059;22019736;20404925;21264308;21481940;21669053;21666056;21690323;21513557;21943707;22287717;10866662;22323539;21898091;9121466;22658922 6957 P04435 ABBA01034123;ABBA01034124;ABBA01034125;ABBA01034126;ABBA01034127;ABBA01034128;ABBA01034129;AC104597;AC229888;AC231380;AC231381;AC233282;AC234635;AC239612;AC239618;AMYH01018007;L36092;NG_001333;U66059;U66060;U66061 1336556;1651788;1660942;1665038;1667699;1673393;1680086;1684403;1693766;1694522;1694524;1699580;1700624;1711062;1722465;1739031;1739209;1742679;1742681;1742683;1742685;1743825;1744073;1747843;1751175;1784250;1786900;1852985;2124352;2124572;2124607;2132815;2135739;2139495;2144292;2146411;2148251;2150910;2170030;2171990;2175186;2178600;5014816;5107621;7183709 D2S1884;D3S4005;D7S1576;D7S2020;D7S2277;D7S2473;D7S2928;G43005;G43006;G61973;G65748;GDB:1317306;GDB:1318702;GDB:201758;GDB:201759;GDB:201760;GDB:201761;GDB:374188;GDB:3755013;GDB:385548;PRSS1;RH103391;RH103934;RH17643;RH46953;RH69072;RH69087;RH70695;RH71395;RH94247;SGC35671;SHGC-105044;SHGC-106892;SHGC-171858;SHGC-31009;SHGC-35337;SHGC-35595;SHGC-58840;SHGC-86166;STS-K02545;STS-L48728;STS-M14158;STS-X15505;TCRB TCRB;TRB@ T cell receptor beta locus;T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster;T-cell receptor, beta cluster;t-cell receptor beta chain APPROVED protein-coding 12155 186930 REVIEWED 1343799 TRBJ1-2 T cell receptor beta joining 1-2 7 142194829 142194876 + 28634 X00936 1673393 STS-K02545 12163 1351714 TRBJ1-3 T cell receptor beta joining 1-3 7 142195442 142195491 + 28633 M14158 1673393;1743825;2124572 GDB:374188;RH69072;STS-K02545 12164 1348227 TRBJ1-4 T cell receptor beta joining 1-4 7 142196037 142196087 + 28632 M14158 1673393;2124572 RH69072;STS-K02545 12165 1353430 TRBJ1-6 T cell receptor beta joining 1-6 7 142196800 142196852 + 28630 M14158 2124572;2150910 RH69072;STS-M14158 12167 1344842 TRBJ1-5 T cell receptor beta joining 1-5 7 142196310 142196359 + 28631 M14158 1673393;2124572;2150910 RH69072;STS-K02545;STS-M14158 12166 1343386 TRBJ2-1 T cell receptor beta joining 2-1 7 142204177 142204226 + 28629 X02987 12168 1346351 TRBJ2-2 T cell receptor beta joining 2-2 7 142204372 142204422 + 28628 X02987 12169 1354024 TRBJ2-3 T cell receptor beta joining 2-3 7 142204659 142204707 + 28626 X02987 12171 1345344 TRBJ2-4 T cell receptor beta joining 2-4 7 142204810 142204859 + 28625 X02987 12172 1607040 TRBJ2-2P T cell receptor beta joining 2-2P (non-functional) 7 7 7 q34 137331684 137331729 + 142204509 142204554 + 142494381 142494426 + 8650574;2997718 28627 ABBA01034128;AC104597;AC239618;AMYH01018007;L36092;NG_001333;U66061 TRBJ22P pseudo 12170 VALIDATED 1346887 TRBJ2-5 T cell receptor beta joining 2-5 7 142204931 142204978 + 28624 X02987 12173 1350678 TRBJ2-6 T cell receptor beta joining 2-6 7 142205051 142205103 + 28623 X02987 12174 1352331 TRBJ2-7 T cell receptor beta joining 2-7 7 142205268 142205314 + 28622 M14159 12175 1607041 TRBV1 T cell receptor beta variable 1 (pseudogene) 7 7 7 q34 136776319 136776768 + 141645314 141645763 + 141998851 141999300 + 8650574 28621 ABBA01034123;AC231381;AMYH01018007;L36092;NG_001333;U66059 TCRBV1S1P;TCRBV27S1P APPROVED pseudo 12176 VALIDATED 1350021 TRBV10-3 T cell receptor beta variable 10-3 7 141932825 141933274 + 28583 U03115 12179 1343194 TRBV11-3 T cell receptor beta variable 11-3 7 141943473 141943910 + 28580 M33234 12182 1347554 TRBV12-1 T cell receptor beta variable 12-1 (pseudogene) 7 7 7 q34 136914163 136914605 + 141783687 141784129 + 142216290 142216732 - 8650574;3772297 28579 ABBA01034125;AC233282;AMYH01018007;L36092;NG_001333;U66059;X07224 TCRBV12S1;TCRBV8S4P;TRBV121 APPROVED pseudo 12183 VALIDATED 1605926 TRAPPC9 trafficking protein particle complex 9 This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] 8 8 8 q24.3 136910795 137637626 - 140811770 141537860 - 140742586 141468678 - 6480464;7240710 16344560;22279557;15951441;14702039;12477932;11572484;20966969;19724895;19851296;20004763;20004765;20198315;20379614;23022380;21858081;21890473;21906983;22952603;23251661;22989526;22549410;21525244 83696 H0YBR0;Q9BQA2 AA863329;AB067469;ABBA01013657;ABBA01013658;ABBA01013659;ABBA01013660;ABBA01013661;ABBA01013662;ABBA01013663;ABBA01013664;ABBA01013665;ABBA01013666;ABBA01013667;ABBA01013668;ABBA01013669;ABBA01013670;AC007869;AC021636;AC021744;AC040978;AC091022;AC104244;AC115836;AK026394;AK027689;AK128755;AK308815;AL833973;AMYH01019060;AMYH01019061;AMYH01019062;AMYH01019063;AMYH01019064;AMYH01019065;AMYH01019066;AY190606;AY630619;BC003650;BC006206;BC065288;BP394939;CH471060;DA228705;DA782470;NG_016478;NM_001160372;NM_031466 AAH03650;AAH06206;AAH65288;AAO38740;AAV31908;BAB55299;BAB67775;BAC87600;CAH56384;EAW92200;EAW92201;NP_001153844;NP_113654;Q96Q05 Hs.654911;Hs.733622 IBP;IKBKBBP;KIAA1882;MGC4737;MGC4769;MRT13;NIBP;T1;TRS120 IKK2 binding protein;NIK and IKK-beta binding protein;NIK- and IKBKB-binding protein;OTTHUMP00000226148;OTTHUMP00000226166;OTTHUMP00000226167;TRAPP 120 kDa subunit;trafficking protein particle complex subunit 9;tularik gene 1 protein APPROVED protein-coding ENSG00000167632 30832 18136 611966;613192 REVIEWED 1350320 TRBV12-2 T cell receptor beta variable 12-2 (pseudogene) 7 7 7 q34 136939824 136940266 + 141809348 141809790 + 142190638 142191080 - 8650574;3772297 28578 ABBA01034125;AC233282;AMYH01018007;L36092;NG_001333;U66059;X06936 TCRBV12S2;TCRBV8S5P;TRBV122 APPROVED pseudo 12184 VALIDATED 1349383 TRBV12-3 T cell receptor beta variable 12-3 7 141949075 141949521 + 28577 P01733 X07192 1711062 SHGC-86166 12185 1346638 TRBV12-4 T cell receptor beta variable 12-4 7 141952398 141952844 + 28576 K02546 12186 1347155 TRBV12-5 T cell receptor beta variable 12-5 7 141969589 141970035 + 28575 X07223 12187 1343831 TRBV13 T cell receptor beta variable 13 7 141924413 141924896 + 28574 U03115 12188 1349685 TRBV11-1 T cell receptor beta variable 11-1 7 141776154 141776631 + 28582 M33233 12180 1344661 TRBV10-1 T cell receptor beta variable 10-1 7 141768395 141768844 + 28585 U17050 12177 1347361 TRBV10-2 T cell receptor beta variable 10-2 7 141793461 141793910 + 28584 U17049 2175186 GDB:1317306 12178 1352697 TRBV14 T cell receptor beta variable 14 7 141976532 141976964 + 6480464 28573 X06154 12189 1345732 TRBV11-2 T cell receptor beta variable 11-2 7 141802421 141802859 + 28581 L36092 12181 1349099 TRBV15 T cell receptor beta variable 15 7 141981607 141982075 + 28572 U03115 12190 1353117 TRBV17 T cell receptor beta variable 17 7 141990232 141990966 + 28570 U03115 12192 1351334 TRBV18 T cell receptor beta variable 18 7 142004303 142004921 + 28569 L36092 12193 1348874 TRBV2 T cell receptor beta variable 2 7 141647309 141647743 + 28620 L36092 12195 1345822 TRBV16 T cell receptor beta variable 16 (gene/pseudogene) 7 q34 141986616 141987069 + 14730616;15086347;15480765;1660526;7868375;8206523;8650574 28571 ABBA01034126;AC229888;AJ841717;AMYH01018007;L26231;L36092;NG_001333;U66060 AAA69811;CAH56738 2170030 SHGC-35595 BV25S1J1.2;TCRBV16S1;TCRBV25S1A2PT APPROVED pseudo 12191 VALIDATED 1349212 TRBV19 T cell receptor beta variable 19 7 142007563 142008038 + 6480464 28568 U48260 1784250;2144292 D3S4005;SHGC-171858 12194 1354433 TRBV20-1 T cell receptor beta variable 20-1 7 142015233 142015905 + 28567 M11955 1651788;1660942;1665038;1667699;1680086;1693766;1694522;1694524;1699580;1739209;1747843;2124352;2124607;2135739;2148251;2171990;5014816;5107621 D7S1576;D7S2277;D7S2928;G43005;G43006;G65748;GDB:1318702;PRSS1;RH103391;RH17643;RH46953;RH69087;SGC35671;SHGC-35337;SHGC-58840;STS-L48728;STS-X15505;TCRB 12196 1349124 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) 9 9 9 p21 33549653 33550316 + 33607843 33608506 + 33617843 33618506 + 8384723 6962 ABBA01065043;AF029308;AL139008;AMYH01019324;L05149;NG_001337 TCRBV20S2;TCRBV2O;TCRBV2S2O pseudo 12197 VALIDATED 1345444 TRBV21OR9-2 T cell receptor beta variable 21/OR9-2 (pseudogene) 9 9 9 p21 33560935 33561380 + 33619141 33619586 + 33629141 33629586 + 8384723 6959 ABBA01065043;AF029308;AL139008;AMYH01019324;L05151;NG_001337 1651788;1786900 SGC35671;SHGC-106892 TCRBV10O;TCRBV10S2O;TCRBV21S2 APPROVED pseudo 12199 VALIDATED 1342627 TRBV22OR9-2 T cell receptor beta variable 22/OR9-2 (pseudogene) 9 9 9 p21 33565645 33566094 + 33623851 33624300 + 33633851 33634300 + 8384723 246283 ABBA01065043;AF029308;AL139008;AMYH01019324;NG_001337 TCRBV22S2;TCRBV29S2O APPROVED pseudo 18740 VALIDATED 1603650 TRBV22-1 T cell receptor beta variable 22-1 (pseudogene) 7 7 7 q34 137157424 137157874 + 142030237 142030487 + 142349249 142349699 + 8650574 28565 ABBA01034128;AC231380;AC239612;AMYH01018007;L36092;NG_001333;U66061 TCRBV22S1;TCRBV29S1P;TRBV22 APPROVED pseudo 12200 VALIDATED 1344272 TRBV23OR9-2 T cell receptor beta variable 23/OR9-2 (non-functional) 9 9 9 p21 33569829 33570300 + 33628035 33628506 + 33638035 33638506 + 8384723 28552 ABBA01065043;AF029308;AL139008;AMYH01019324;L27615;NG_001337 AAA36721 1680086 RH17643 TCRBV19S2O;TCRBV23S2;TRBV23OR92 pseudo 12202 VALIDATED 1343306 TRBV24-1 T cell receptor beta variable 24-1 7 142043797 142044273 + 28563 M11951 12203 1351381 TRBV24OR9-2 T cell receptor beta variable 24/OR9-2 (pseudogene) 9 9 9 p21 33580921 33581403 + 33639129 33639611 + 33649129 33649611 + 8384723 6961 ABBA01065043;AF029308;AL139008;AMYH01019325;L05153;NG_001337 TCRBV15O;TCRBV15S2O;TCRBV24S2 APPROVED pseudo 12204 VALIDATED 1347072 TRBV25-1 T cell receptor beta variable 25-1 7 142058172 142058639 + 28562 L27610 2135739 TCRB 12205 1344379 TRBV25OR9-2 T cell receptor beta variable 25/OR9-2 (pseudogene) 9 9 9 p21 33593994 33594455 + 33652201 33652662 + 33662201 33662662 + 8384723 6960 ABBA01065042;AF029308;AL356489;AMYH01019325;L05152;NG_001337 1678065 RH98372 TCRBV11O;TCRBV11S2O;TCRBV25S2 APPROVED pseudo 12206 VALIDATED 1603652 TRBV26 T cell receptor beta variable 26 (pseudogene) 7 7 7 q34 137210280 137210764 + 142083093 142083577 + 142403511 142403995 + 8650574 28561 ABBA01034128;AC231380;AC239612;AMYH01018007;L36092;NG_001333;U66061 TCRBV26S1;TCRBV28S1P APPROVED pseudo 12207 VALIDATED 1350872 TRBV26OR9-2 T cell receptor beta variable 26/OR9-2 (pseudogene) 9 9 9 p21 33627374 33627855 + 33685578 33686059 + 33695578 33696059 + 8384723 246285 ABBA01065042;AF029308;AL356489;AMYH01019325;NG_001337 TCRBV26S2;TCRBV28S2;TCRBV28S2O APPROVED pseudo 15485 VALIDATED 1343790 TRBV27 T cell receptor beta variable 27 7 142102795 142103267 + 28560 L36092 1699580;5015961;5109281 D15S1477;D1S1425;RH103391 12208 1352321 TRBV28 T cell receptor beta variable 28 7 142108085 142108565 + 28559 U08314 1667699;1673393;1693766;1739209;1743825;1747843;2124352;2124572;2124607;2150910;2171990;5014816 D7S2277;D7S2928;G65748;GDB:1318702;GDB:374188;PRSS1;RH46953;RH69072;RH69087;SHGC-58840;STS-K02545;STS-M14158 12209 1354430 TRBV29-1 T cell receptor beta variable 29-1 7 142127703 142128316 + 28558 L36092 2124607 RH46953 12210 1345889 TRBV3-1 T cell receptor beta variable 3-1 7 141654907 141655366 + 28619 U07977 1336556;7183709 D7S2473 12212 1343540 TRBV30 T cell receptor beta variable 30 7 142220397 142221097 - 28557 L36092 1694522;1694524;1744073;5107621 G43005;G43006;GDB:385548;SHGC-35337 12214 1607042 TRBV3-2 T cell receptor beta variable 3-2 (pseudogene) 7 7 q34 136836473 136836932 + 141705636 141705801 + 8650574 28618 ABBA01034124;AC234635;L36092;NG_001333;U66059 TCRBV3S2;TCRBV9S2A2PT;TRBV32 APPROVED pseudo 12213 VALIDATED 1342897 TRBV29OR9-2 T cell receptor beta variable 29/OR9-2 (non-functional) 9 9 9 p21 33718070 33718677 + 33776219 33776826 + 33786219 33786826 + 8384723 6958 ABBA01065042;AF029308;AL358573;AMYH01019327;L05150;NG_001337 TCRBV29S2;TCRBV4O;TCRBV4S2O;TRBV29/OR9-2 pseudo 12211 VALIDATED 1348099 TRBV4-1 T cell receptor beta variable 4-1 7 141659531 141659984 + 28617 U07977 1684403 RH94247 12215 1349019 TRBV4-3 T cell receptor beta variable 4-3 7 141709095 141709548 + 28615 U07978 1684403 RH94247 12217 1347808 TRBV4-2 T cell receptor beta variable 4-2 7 141691835 141692288 + 28616 U07975 12216 1349941 TRBV5-1 T cell receptor beta variable 5-1 7 141667379 141667848 + 28614 L36092 12218 1607043 TRBV5-2 T cell receptor beta variable 5-2 (pseudogene) 7 7 7 q34 136871402 136871842 + 141740923 141741363 + 142259058 142259498 - 12707368;8650574 28613 ABBA01034125;AC233282;AC234635;AMYH01018007;L36092;NG_001333;U66059 2139495 D7S2020 TCRBV31S1;TCRBV5S2P;TRBV52 APPROVED pseudo 12219 VALIDATED 1603651 TRBV23-1 T cell receptor beta variable 23-1 (non-functional) 7 7 7 q34 137161643 137162146 + 142034456 142034959 + 142353468 142353964 + 8650574 28564 ABBA01034128;AC231380;AC239612;AMYH01018007;L36092;NG_001333;U66061 1680086 RH17643 TCRBV19S1P;TCRBV23S1;TRBV231 pseudo 12201 VALIDATED 1346977 TRBV5-5 T cell receptor beta variable 5-5 7 141851028 141851492 + 28610 L36092 12222 1345174 TRBV5-4 T cell receptor beta variable 5-4 7 141831583 141832047 + 6480464 28611 L36092 5107621 SHGC-35337 12221 1350198 TRBV5-6 T cell receptor beta variable 5-6 7 141868540 141869005 + 28609 L36092 12223 1353738 TRBV5-3 T cell receptor beta variable 5-3 (non-functional) 7 7 7 q34 136888145 136888611 + 141757668 141758134 + 142242281 142242747 - 8650574;1660526 28612 ABBA01034125;AC233282;AC234635;AMYH01018007;L36092;NG_001333;U66059;X61439 CAA43679 1700624 RH103934 TCRBV5S3;TCRBV5S5P;TRBV53 pseudo 12220 VALIDATED 1353713 TRBV5-8 T cell receptor beta variable 5-8 7 141908693 141909159 + 28607 L36092 1739031;2178600 D2S1884;SHGC-31009 12225 1345448 TRBV6-1 T cell receptor beta variable 6-1 7 141674660 141675092 + 28606 X61446 12226 1347964 TRBV6-2 T cell receptor beta variable 6-2 7 141695655 141696087 + 28605 X61445 12227 1350279 TRBV5-7 T cell receptor beta variable 5-7 7 141888557 141889023 + 28608 L36092 12224 1350235 TRBV6-3 T cell receptor beta variable 6-3 7 141717336 141717768 + 28604 U07978 12228 1343979 TRBV6-4 T cell receptor beta variable 6-4 7 141749279 141749713 + 28603 X61653 2139495 D7S2020 12229 1346660 TRBV6-5 T cell receptor beta variable 6-5 7 141819478 141819913 + 28602 L36092 5107621 SHGC-35337 12230 1349277 TRBV6-6 T cell receptor beta variable 6-6 7 141838053 141838485 + 28601 L36092 12231 1351484 TRBV6-7 T cell receptor beta variable 6-7 7 141856336 141856768 + 28600 L36092 12232 1345245 TRBV6-8 T cell receptor beta variable 6-8 7 141875852 141876280 + 28599 L36092 12233 1347958 TRBV6-9 T cell receptor beta variable 6-9 7 141895863 141896294 + 28598 X61447 12234 1349523 TRBV7-2 T cell receptor beta variable 7-2 7 141720969 141721465 + 28596 X61442 1651788;1660942;1665038;1667699;1673393;1680086;1693766;1694522;1694524;1699580;1700624;1711062;1722465;1739031;1739209;1742679;1742681;1742685;1743825;1747843;1751175;1784250;1786900;1852985;2124352;2124572;2124607;2132815;2135739;2139495;2144292;2146411;2148251;2150910;2170030;2171990;2175186;2178600;5014816 D2S1884;D3S4005;D7S1576;D7S2020;D7S2277;D7S2928;G43005;G43006;G61973;G65748;GDB:1317306;GDB:1318702;GDB:201758;GDB:201759;GDB:201761;GDB:374188;GDB:3755013;PRSS1;RH103391;RH103934;RH17643;RH46953;RH69072;RH69087;RH70695;RH71395;SGC35671;SHGC-105044;SHGC-106892;SHGC-171858;SHGC-31009;SHGC-35595;SHGC-58840;SHGC-86166;STS-K02545;STS-L48728;STS-M14158;STS-X15505;TCRB 12236 1352779 TRBV7-3 T cell receptor beta variable 7-3 7 141752850 141753306 + 28595 X61440 1742679;2132815 GDB:201758;RH71395 12237 1346866 TRBV7-4 T cell receptor beta variable 7-4 7 141823636 141824097 + 28594 L36092 12238 1603647 TRBV7-5 T cell receptor beta variable 7-5 (pseudogene) 7 7 7 q34 136973047 136973518 + 141842568 141843039 + 142157378 142157849 - 8650574 28593 ABBA01034125;AC233282;AMYH01018007;L36092;NG_001333;U66060 TCRBV6S9P;TCRBV7S5;TRBV75 APPROVED pseudo 12239 VALIDATED 1351136 TRBV7-6 T cell receptor beta variable 7-6 7 141860651 141861143 + 28592 L36092 12240 1345893 TRBV7-1 T cell receptor beta variable 7-1 (non-functional) 7 7 7 q34 136809513 136810001 + 141678521 141679009 + 142032039 142032527 + 8650574;8381389;1660526;1404388 28597 ABBA01034123;AC231381;AMYH01018007;L36092;NG_001333;U66059;X61444 CAA43684 1742683 GDB:201760 TCRBV6S7P;TCRBV7S1;TRBV71 pseudo 12235 VALIDATED 1354335 TRBV7-7 T cell receptor beta variable 7-7 7 141880094 141880595 + 28591 L36092 12241 1342684 TRBV7-8 T cell receptor beta variable 7-8 7 141900477 141900960 + 28590 M11953 1742685 GDB:201761 12242 1343500 TRBV7-9 T cell receptor beta variable 7-9 7 141917894 141918366 + 28589 L36092 1722465 G61973 12243 1603653 TRBVA T cell receptor beta variable A (pseudogene) 7 7 7 q34 137195987 137196441 + 142068801 142069254 + 142389237 142389691 + 8650574 28556 ABBA01034128;AC231380;AC239612;AMYH01018007;L36092;NG_001333;U66061 1665038 D7S1576 TCRBV33S1 APPROVED pseudo 12247 VALIDATED 1347924 TRBV9 T cell receptor beta variable 9 7 141760404 141760878 + 28586 L36092 1852985;2146411 GDB:3755013;RH70695 12246 1603649 TRBV8-2 T cell receptor beta variable 8-2 (pseudogene) 7 7 7 q34 136885129 136885589 + 141754652 141755112 + 142245303 142245763 - 8650574 28587 ABBA01034125;AC233282;AC234635;AMYH01018007;L36092;NG_001333;U66059 1742679;2132815 GDB:201758;RH71395 TCRBV32S1P;TRBV82 APPROVED pseudo 12245 VALIDATED 1347997 TRBVAOR9-2 T cell receptor beta variable A/OR9-2 (pseudogene) 9 9 9 p21 33614063 33614516 + 33672268 33672721 + 33682268 33682721 + 8384723 246286 ABBA01065042;AF029308;AL356489;AMYH01019325;NG_001337 1665038 D7S1576 TCRBV33S2;TRBVA/OR9-2 APPROVED pseudo 18741 VALIDATED 1603648 TRBV8-1 T cell receptor beta variable 8-1 (pseudogene) 7 7 7 q34 136857556 136857842 + 141726537 141727361 + 142273056 142273342 - 8650574 28588 ABBA01034125;AC233282;AC234635;AMYH01018007;L36092;NG_001333;U66059 TCRBV30S1P;TCRBV8S1P;TRBV81 APPROVED pseudo 12244 VALIDATED 1603654 TRBVB T cell receptor beta variable B (pseudogene) 7 7 7 q34 137225978 137226518 + 142098796 142099329 + 142419212 142419752 + 8650574 28555 ABBA01034128;AC231380;AC239612;AMYH01018007;L36092;NG_001333;U66061 TCRBV34S1 APPROVED pseudo 12248 VALIDATED 1342663 TRBVOR9@ T cell receptor beta variable orphans on chromosome 9 8384723 6963 12249 1352762 TRDD1 T cell receptor delta diversity 1 14 21977379 21977386 + 28525 M23325 12254 1348389 TRDC T cell receptor delta constant 14 22001746 22005409 + 28526 B7Z8K6 M22148 2139010 D14S1186 12253 1348450 TRDD2 T cell receptor delta diversity 2 14 21977839 21977847 + 28524 M22153 12255 1348569 TRDD3 T cell receptor delta diversity 3 14 21987945 21987957 + 28523 M22152 12256 1349238 TRDJ1 T cell receptor delta joining 1 14 21988921 21988971 + 28522 M20289 12257 1345756 TRDJ2 T cell receptor delta joining 2 14 21995521 21995574 + 28521 L36386 12258 1353545 TRD T cell receptor delta locus 14 14 q11.2 21961377 22005409 + 22891537 22935569 + 6480464 19536290;19666468;19756574;19843947;20413723;19446661;18624305;18440637;18321859;17015149;16548914;16424183;16307908;16081821;14734745;14656882;13679813;12918704;12847212;12707047;12088111;11714808;8386664;8340374;3499667;2965024;2825032;2521355;2521243;2456576;2439914;20181655;20592281;20952657;21753698;21982596;22180442;21928126;22045985;22078709;22171570;23336327 6964 ABBA01061277;AE000521;AE000661;AMYH01005597;NG_001332 1650608;1742851;1787696;2139010;2146178 D14S1186;D14S920;G35434;GDB:210884;SHGC-171779 FLJ52034;FLJ52576;FLJ53668;FLJ54555;FLJ55265;FLJ56790;TCRD;TCRDV1;TRD@ T cell receptor delta locus;T-cell antigen receptor, delta polypeptide;T-cell receptor, delta (V,D,J,C) 2315792 GLUCO171_H APPROVED protein-coding 12252 186810 VALIDATED 1352909 TRDJ3 T cell receptor delta joining 3 14 21997930 21997988 + 28520 M21508 12259 1348491 TRDJ4 T cell receptor delta joining 4 14 21994081 21994128 + 28519 12260 1352101 TRDV1 T cell receptor delta variable 1 14 21634167 21634736 + 28518 M22198 1299943;1650608;1742651;1742653;1742655;1742851;1761273;1761551;1783032;1783122;1787696;1851546;2146178;7185537 D14S283;D14S920;G35434;GDB:198183;GDB:198184;GDB:198186;GDB:210884;RH70855;SHGC-143450;SHGC-145279;SHGC-145547;SHGC-171777;SHGC-171779 12262 1348439 TRDV3 T cell receptor delta variable 3 14 22007873 22008446 - 28516 M23326 1741999;2131541 GDB:188625;RH18088 12264 1343000 TRDV2 T cell receptor delta variable 2 14 21961377 21961873 + 28517 X15207 1647900;1694764;1742851 D14S1325;G43587;GDB:210884 12263 1350612 TRAT1 T cell receptor associated transmembrane adaptor 1 3 3 3 q13 106939375 106971458 + 110024321 110056404 + 108541631 108573714 + 6480464 12660731;9687533;11390434;16160011;15489334;12477932;11042152;10723796;10663578;22318606;22607805;10790433;18817831 50852 C9JF66;Q6PIZ9 ABBA01061699;ABBA01061700;AC016932;AF161547;AJ224878;AJ240084;AJ240085;AK291991;AMYH01013382;BC025713;BX111605;BX329167;BX415345;CH471052;NM_016388 AAF29034;AAH25713;ABM82979;ABM86173;BAF84680;CAA12178;CAB72134;EAW79717;EAW79718;NP_057472;Q6PIZ9 Hs.138701 1338818;7185149 D3S1302 HSPC062;TCRIM;TRIM OTTHUMP00000214325;OTTHUMP00000214326;T-cell receptor interacting molecule;T-cell receptor-associated transmembrane adapter 1;T-cell receptor-interacting molecule;pp29/30 protein-coding ENSG00000163519 30698 05392 604962 VALIDATED 1351520 TRBV21-1 T cell receptor beta variable 21-1 (pseudogene) 7 7 7 q34 137152602 137153069 + 142025416 142025883 + 142344427 142344887 + 6480464 14702039;12477932;8650574 28566 ABBA01034128;AC231380;AC239612;AMYH01018007;L27608;L36092;L48728;NG_001333;U66060 AAA51029;AAB59582;AAB59583 1651788;1786900;2148251 SGC35671;SHGC-106892;STS-L48728 TCRBV10S1P;TCRBV21S1;TRBV211 APPROVED pseudo 12198 VALIDATED 1606039 TRDMT1 tRNA aspartic acid methyltransferase 1 This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010] 10 10 p15.1 17224988 17283687 - 17184982 17244070 - 6480464;6907045 9425235;19246518;19161160;19064572;17533396;16424344;16173030;16169070;15721400;15164054;14702039;12794065;12477932;11551826;11139614;9763678;9599025;9592134;11230735;11713417;12665573;15094296;16679017;18567810;19680556;19808971;19851296;20147412;19763880;20800603;20864816;21832049;21988832;22591353 1787 B0YJ06;B7Z8H2;E7EMI8;H0Y2T8;H0Y4A2;O14717;Q6ICS7;Q7Z3E4 ABBA01034559;ABBA01034560;AC067747;AF012128;AF045888;AF329940;AF329941;AF329942;AF329943;AF329944;AJ223333;AK021659;AK291417;AK294100;AK299027;AK303428;AL133415;AMYH01002065;BC047733;BU620523;BX537961;CH471072;CR450316;DC411638;EF444974;NM_004412 AAC39764;AAC51939;AAH47733;AAK68033;AAK68034;AAK68035;AAK68036;AAK68037;ACA05981;ACA05982;ACA05983;ACA05984;ACA05986;ACA05987;BAF84106;BAG61104;BAH11673;BAH13958;CAA11272;CAD97925;CAG29312;EAW86217;EAW86218;EAW86219;NP_004403;O14717 Hs.351665 1651247;1654571;1680072;1706728 D10S1456;RH70165;RH92114;SHGC-80818 DMNT2;DNMT2;M.HsaIIP;MHSAIIP;PuMet;RNMT1 DNA (cytosine-5)-methyltransferase-like protein 2;DNA MTase homolog HsaIIP;DNA methyltransferase-2;OTTHUMP00000019228;OTTHUMP00000019229;tRNA (cytosine(38)-C(5))-methyltransferase;tRNA (cytosine-5-)-methyltransferase APPROVED protein-coding 2977 16001 602478 REVIEWED 1351303 TREML3P triggering receptor expressed on myeloid cells-like 3, pseudogene TREML3 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008] 6 6 6 p21.1 42728989 42738382 - 41284270 41298360 - 41176292 41185685 - 6480464 12645956 340206 ABBA01050760;AF534825;AL391903;AMYH01016291;NR_027256 AAO15023 Hs.93698 1755829;1771698;2173103 RH46666;SHGC-142671;WI-18072 TLT3;TREML3 APPROVED pseudo ENSG00000184106 30806 609716 VALIDATED 736593 TREH trehalase (brush-border membrane glycoprotein) This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. [provided by RefSeq, Jul 2008] 11 11 11 q23.3 115689705 115711140 - 118034152 118055591 - 118528942 118550381 - 1580863;6480464;6907045;7240710 8773341;9427547;19126402;14702039;12477932;8125298;4737205;2619709;22369735;20379614;23468175;20881960;22951725 11181 B7WPJ2;E9PLW7;E9PNA2;E9PPK1;O43280 AB000824;ABBA01039701;AK091981;AK223140;AK223143;AK309565;AMYH01004072;AP000941;AP002954;BC109206;CH471065;NG_023321;NM_007180 AAI09207;BAA24381;BAD96860;BAD96863;BAG52455;EAW67408;EAW67409;NP_009111;O43280 Hs.129712 1716835;1737945;2134135;2164642;2168089 D11S2274E;D11S3550;D11S797;RH11874;RH121711 MGC129621;TRE;TREA OTTHUMP00000232834;OTTHUMP00000232835;OTTHUMP00000232836;alpha,alpha-trehalase;alpha,alpha-trehalose glucohydrolase;trehalase APPROVED protein-coding ENSG00000118094 12266 02038 275360;612119 REVIEWED 1351289 TREML5P triggering receptor expressed on myeloid cells-like 5, pseudogene 6 6 6 p21.1 42770566 42770780 + 41325093 41325305 + 41217115 41217327 + 12645956 221438 ABBA01050760;AF534827;AL391903;AMYH01016291;NR_002794 Hs.639392 TLT5;TREML2P;TREML2P1 APPROVED pseudo 30808 PROVISIONAL 735791 TRDN triadin This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011] 6 6 q22.31 123579182 123999641 - 123537484 123958238 - 1580863;6480464 7588753;11026130;18025088;17526652;17081983;14638677;12659871;12480542;12477932;11504710;11113462;11069905;10748065;10531621;10212196;9890886;9287354;7721813;11741309;19890582;20379614;20414141;15840729;8889548;22422768;20301466;17569730;19403607;19567751 10345 H0Y313;H0Y6P0;H7BY47;H9ME53;Q13061;Q5SWK9;Q68D40;Q8IVK2 AA401295;ABBA01025970;ABBA01025971;ABBA01025972;ABBA01025973;ABBA01025974;ABBA01025975;ABBA01025976;AI371054;AI375093;AJ489257;AK291867;AK307619;AL133257;AL357352;AL445259;AL603902;AL603911;AMYH01016637;BC012590;BC029393;BC054863;BC057222;BC070290;BC139910;BE646014;BM678702;CH471051;CR749591;JN900469;NG_030438;NM_001251987;NM_001256020;NM_001256021;NM_001256022;NM_006073;U18985 AAA75315;AAH29393;AAH57222;AAH70290;AAI39911;AAI67789;AEW10557;BAF84556;CAD33526;CAH18390;EAW48157;NP_001238916;NP_001242949;NP_001242950;NP_001242951;NP_006064;Q13061 Hs.144744 1667402;1667753;1697588;1720587;1720865;1726509;1727767;1735592;1751717;1752637;1786184;2117501;2154831;2169974;2186390 D6S1107E;D6S1128E;G59249;G59260;G62635;G63149;RH102304;RH35867;SHGC-105753;SHGC-106448;SHGC-35487;SHGC-54225;SHGC-58014;SHGC-89119;WI-11154 DKFZp779I2253;MGC88285;TDN;TRISK;TRISK51 OTTHUMP00000017124;dJ166D18.1 (triadin);triadin APPROVED protein-coding ENSG00000186439 12261 04474 603283 REVIEWED 1349335 TRESMCR TRE oncogene, Smith Magenis syndrome chromosome region 10615134 27169 12268 1320401 TREM2 triggering receptor expressed on myeloid cells 2 This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] 6 6 p21.1 41234230 41238892 - 41126246 41130922 - 6480464;7240710 10799849;19457124;19079182;19019460;18551625;17530208;16505336;15966270;15489334;12925681;12913093;12754369;12645956;12477932;12080485;22939635;19913121;20628086;16715077;19230638;20421649;18546367;20301376;23150908;23150934;20640189;21834902 54209 Q5TCX1;Q9NZC2 AB062787;ABBA01050760;AF213457;AK312215;AL133404;AMYH01016291;BC018284;BC032362;CH471081;DQ217932;NG_011561;NM_001271821;NM_018965 AAF69824;AAH32362;ABB01002;ABM82236;ABM85420;BAB78736;BAG35148;EAX04032;EAX04033;EAX04034;NP_001258750;NP_061838;Q9NZC2 Hs.435295 1678543 RH94034 TREM-2;Trem2a;Trem2b;Trem2c OTTHUMP00000016368;OTTHUMP00000016369;triggering receptor expressed on monocytes 2;triggering receptor expressed on myeloid cells 2;triggering receptor expressed on myeloid cells 2a APPROVED protein-coding ENSG00000095970 17761 05473 221770;605086 REVIEWED 1319823 TREM1 triggering receptor expressed on myeloid cells 1 This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] 6 6 p21.1 41351690 41362435 - 41242999 41254457 - 1580863;6480464 21306476;21393102;20640189;21421043;10799849;17452516;19596984;19527514;19479878;19251433;19109693;19019335;18818748;18656898;18634145;18628981;18396215;18317529;18008257;17785845;17729416;17659879;17634956;17558349;17505044;17336301;17277102;17202378;17008237;16733861;16437719;15585833;15489334;15351648;15309732;15067076;14656437;14574404;12792857;12646648;12645956;12477932;11922939;11323674;8125298;16344560;19913121;20628086;19230638;19396532;19484952;19591072;19917159;20156945;20237496;20375613;20140262;21148811;19923060;22422501;22798017;23414215;21555403;21763322;21910175;21967868;21976106;22179409;21942576;22996209;21906983;21701149;22417086;22459945;22642593;21855288;23436478;23046618;23364598;22829716;22721842 54210 K7EJW1;K7EKM5;Q38L15;Q9NP99 ABBA01050760;AF196329;AF287008;AK223264;AK292162;AK301519;AK313104;AL391903;AMYH01016291;AY074783;BC017773;CH471081;CS265711;DA362458;DA938757;DQ217941;NG_029525;NM_001242589;NM_001242590;NM_018643 AAF71694;AAF90197;AAH17773;AAL74018;ABB01010;ABM82935;ABM86124;BAD96984;BAF84851;BAG35927;BAG63024;CAJ78384;EAX04043;EAX04044;NP_001229518;NP_001229519;NP_061113;Q9NP99 Hs.283022 1712881;2117831 RH121075;RH48773 CD354;TREM-1 OTTHUMP00000016370;triggering receptor expressed on monocytes 1;triggering receptor expressed on myeloid cells 1;triggering-receptor TREM1 APPROVED protein-coding ENSG00000124731 17760 05472 605085 REVIEWED 1316196 TRERF1 transcriptional regulating factor 1 This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. [provided by RefSeq, Jul 2008] 6 6 6 p21.1-p12.1 43745111 43972220 - 42303842 42527761 - 42192669 42419783 - 1580863;6480464 11349124;17015480;15899840;15302935;15072559;14702039;14574404;12530663;12101186;9259413;19913121;20628086;20379614;19471022;21890473;21906983;21987572;19322201 55809 Q05GC8;Q96PN7 ABBA01050729;ABBA01050730;ABBA01050731;ABBA01050732;AF111801;AF297872;AJ277275;AJ277276;AK002096;AK127493;AK308473;AL096814;AL138735;AL450325;AM404182;AM404183;AM404259;AMYH01016302;AMYH01016303;AMYH01016304;BC047920;CH471081;CS300664;NM_033502 AAI56204;AAL01653;AAL39003;BAA92082;BAG54514;CAB88206;CAB88207;CAK32328;CAL49295;CAL49296;CAL49297;EAX04088;EAX04089;EAX04090;EAX04091;EAX04092;EAX04093;NP_277037;Q96PN7 Hs.485392 1649763;1681344;1689255;1727115;2115379;2127243;5014961;5022576 D1S1361;D6S1463;G19200;G31121;G62961;RH93050;RH94356;SGC38173 BCAR2;FLJ21198;HSA277276;RAPA;RP1-139D8.5;TReP-132;dJ139D8.5 OTTHUMP00000016399;OTTHUMP00000016400;OTTHUMP00000016401;breast cancer anti-estrogen resistance 2;rapa-1;rapa-2;transcriptional regulating protein 132;transcriptional-regulating factor 1;transcriptional-regulating protein 132;zinc finger protein rapa;zinc finger transcription factor TReP-132 APPROVED protein-coding ENSG00000124496 18273 11647 610322 REVIEWED 7247915 TRG-AS1 T cell receptor gamma locus antisense RNA 1 100506776 AACC02000036;ABBA01056929;AC006033;AC007245;AK125646;AK130649;AMYH01017188;BQ002637;CH236951;NR_040085 EAL23987 Hs.173034 miscrna 48974 VALIDATED 1350195 TRGC1 T cell receptor gamma constant 1 7 38266214 38271804 - 6966 P0CF51 M14996 1673087;7187376 D7S2865;TCRG 12275 1351505 TRGC2 T cell receptor gamma constant 2 7 38246150 38255698 - 6480464 6967 P03986 M15002 1673087;5022578;5037552;7187376 D1S1423;D7S2865;D8S2279;TCRG 12276 1347668 TRGJ1 T cell receptor gamma joining 1 7 38275617 38275666 - 6968 M12960 12277 1353340 TREML2 triggering receptor expressed on myeloid cells-like 2 TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008] 6 6 6 p21.1 42710254 42721629 - 41266206 41276902 - 41157552 41168925 - 6480464 18650384;16670310;14702039;14574404;12975309;12645956;12477932;19544488;20379614;17192395 79865 Q5T2D2 ABBA01050760;AF534824;AK023755;AL133404;AL391903;AMYH01016291;AY358171;BC125078;BC125079;CH471081;NM_024807 AAI25079;AAI25080;AAO15022;AAQ88538;BAB14668;EAX04035;EAX04036;NP_079083;Q5T2D2 Hs.164797 2159758 SHGC-34265 C6orf76;FLJ13693;MGC149715;MGC149716;TLT-2;TLT2;dJ238O23.1 OTTHUMP00000017974;trem-like transcript 2 protein;triggering receptor expressed on myeloid cells-like protein 2 APPROVED protein-coding ENSG00000112195 21092 11646 609715 VALIDATED 1344507 TRGJ2 T cell receptor gamma joining 2 7 38259506 38259555 - 6969 M12961 12278 1349831 TRGJP T cell receptor gamma joining P 7 38279713 38279774 - 6970 M12950 12279 1342936 TRGJP2 T cell receptor gamma joining P2 7 38262463 38262522 - 6972 M16016 12281 1352083 TRGP1 tRNA glycine (GCC) pseudogene 1 2613239 7199 12283 1348804 TRGV1 T cell receptor gamma variable 1 (non-functional) 7 7 7 p14 38395015 38395484 - 38373712 38374181 - 38407187 38407656 - 2969332;2938743;2527426 6973 AACC02000036;ABBA01056929;AC007245;AF159056;AMYH01017188;CH236951;M12949;NG_001336 1769551 TCRG TCRGV1;V1S1P pseudo 12284 VALIDATED 1344233 TRGV10 T cell receptor gamma variable 10 (non-functional) 7 7 7 p14 38327245 38327715 - 38305936 38306406 - 38339411 38339881 - 2969332;2527426 6984 AACC02000036;ABBA01056928;AC006033;AF159056;AMYH01017188;CH236951;NG_001336;X07206 CAA30182 TCRGV10;V3P pseudo 12285 VALIDATED 1345520 TRGJP1 T cell receptor gamma joining P1 7 38282385 38282444 - 6971 X08084 12280 1353564 TRGV2 T cell receptor gamma variable 2 7 38368990 38369454 - 6480464 6974 M13429 2142657 RH11095 12287 1348271 TRGV11 T cell receptor gamma variable 11 (non-functional) 7 7 7 p14 38319049 38319511 - 38297742 38298204 - 38331217 38331679 - 2969758;2969332;2527426 6985 Q99601 AACC02000036;ABBA01056928;AC006033;AF159056;AMYH01017188;CH236951;NG_001336;Y11227 CAA72108 TCRGV11;V4P pseudo 12286 VALIDATED 1344243 TRGV3 T cell receptor gamma variable 3 7 38364638 38365105 - 6976 P03979 M13430 12288 1343924 TRGV4 T cell receptor gamma variable 4 7 38359841 38360309 - 6977 X15272 2142657 RH11095 12289 1352683 TRGV5 T cell receptor gamma variable 5 7 38355481 38355950 - 6978 M36286 12290 1346206 TRGV5P T cell receptor gamma variable 5P (pseudogene) 7 7 7 p14 38372457 38372926 - 38351156 38351625 - 38384631 38385100 - 2969332;2938743;2527426 6979 AACC02000036;ABBA01056929;AC006033;AF159056;AMYH01017188;CH236951;M13431;NG_001336 TCRGV5P;V1S5P APPROVED pseudo 12291 VALIDATED 1350547 TRGV6 T cell receptor gamma variable 6 (pseudogene) 7 7 7 p14 38368127 38368598 - 38346826 38347297 - 38380301 38380772 - 2969332;2938743;2527426 6980 AACC02000036;ABBA01056929;AC006033;AF159056;AMYH01017188;CH236951;M13432;NG_001336 2121646 GDB:4584962 TCRGV5P;TCRGV6;V1S5P;V1S6P APPROVED pseudo 12292 VALIDATED 1344955 TRGV8 T cell receptor gamma variable 8 7 38336469 38336947 - 6982 M13434 12294 1354410 TRGV9 T cell receptor gamma variable 9 7 38323143 38323618 - 1580863;6480464 6983 Q99603 X07205 1673087;1744071;7187376 D7S2865;GDB:385545;TCRG 12295 1351637 TRGVA T cell receptor gamma variable A (pseudogene) 7 7 7 p14 38349885 38350302 - 38328572 38328989 - 38362047 38362464 - 2969332;2527426 6986 AACC02000036;ABBA01056928;AC006033;AF159056;AMYH01017188;CH236951;NG_001336;X07208 TCRGVA;V5P APPROVED pseudo 12296 VALIDATED 1348803 TRGVB T cell receptor gamma variable B (pseudogene) 7 7 7 p14 38323196 38323666 - 38301889 38302359 - 38335364 38335834 - 2969332;2527426 6987 AACC02000036;ABBA01056928;AC006033;AF159056;AMYH01017188;CH236951;NG_001336;X07209 TCRGVB;V6P APPROVED pseudo 12297 VALIDATED 1347933 TREML4 triggering receptor expressed on myeloid cells-like 4 6 6 6 p21.1 42749509 42759573 + 41304040 41314098 + 41196062 41206120 + 6480464 14702039;12975309;12645956;12477932;20237496 285852 H7C4X5;Q6UXN2 ABBA01050760;AF534826;AK090633;AL391903;AMYH01016291;AY358271;BC101780;BC105101;BC143652;CH471081;NM_198153 AAI01781;AAI05102;AAI43653;AAQ88638;EAX04038;NP_937796;Q6UXN2 Hs.434181 MGC126829;TLT-4;TLT4 OTTHUMP00000216800;OTTHUMP00000216802;TLT-4;TREM like transcript 4;trem-like transcript 4 protein;triggering receptor expressed on myeloid cells-like protein 4 protein-coding ENSG00000188056 30807 15548 614664 VALIDATED 1344660 TREML1 triggering receptor expressed on myeloid cells-like 1 This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012] 6 6 p21.1 41225320 41230048 - 41117342 41122070 - 6480464 15100151;12645956;12466851;19436112;18612537;17549298;16505478;15489334;15128762;19230638;14574404;12975309;12665801;12477932;12393607;20093931;22283904;22551551 340205 Q86YW5 ABBA01050760;AF508193;AF534822;AF534823;AL133404;AMYH01016291;AY358357;BC100944;BC100945;BC100946;BQ023322;CH471081;DW009745;NM_001271807;NM_001271808;NM_178174 AAI00945;AAI00946;AAI00947;AAO15020;AAO15021;AAO37827;AAQ88723;EAX04029;EAX04030;EAX04031;NP_001258736;NP_001258737;NP_835468;Q86YW5 Hs.117331 2178343 STS-R02728 GLTL1825;MGC119173;PRO3438;TLT-1;TLT1;dJ238O23.3 OTTHUMP00000017858;trem-like transcript 1 protein;triggering receptor expressed on myeloid cells-like protein 1 APPROVED protein-coding ENSG00000161911 20434 11645 609714 REVIEWED 736899 TRG T cell receptor gamma locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008] 7 7 p14 38246150 38374181 - 38279625 38407656 - 6480464 19536290;19583687;19756574;19843947;11833498;11459064;10430935;3102973;2969332;2961609;2961573;2949984;2879283;2527426;2526744;1655357;12865322;3458221;19446661;18624305;18495780;18440637;16424183;16307908;15905344;15052681;12918704;12707047;12477932;12088111;20848640;20553737;20592281;20952657;21982596;21753698;22180442;21872828;21928126;22045985;22078709;22171570;23000520;23336327 6965 AACC02000036;ABBA01056926;ABBA01056927;ABBA01056928;ABBA01056929;AC006033;AC007245;AF159056;AMYH01017188;CH236951;NG_001336 1661948;1665028;1673087;1744071;1769551;2121646;2142657;7187376 D7S2865;GDB:1318008;GDB:385545;GDB:4584962;RH11095;STS-R68651;TCRG TCRG;TRG@ T cell receptor gamma locus;T-cell antigen receptor, gamma polypeptide;T-cell rearranging gene, gamma;T-cell receptor, gamma cluster;t-cell receptor gamma chain APPROVED protein-coding 12271 186970 REVIEWED 1347990 TRGV7 T cell receptor gamma variable 7 (pseudogene) 7 7 7 p14 38362469 38362942 - 38341167 38341640 - 38374642 38375115 - 12477932;2969332;2938743;2527426 6981 AACC02000036;ABBA01056928;AC006033;AF159056;AMYH01017188;BC027954;CH236951;M13433;NG_001336 Hs.731375 TCRGV7;V1S7P APPROVED pseudo 12293 VALIDATED 1323748 TREX1 three prime repair exonuclease 1 This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 3 3 p21.31 48482233 48484048 + 48506919 48509044 + 1580482;1580863;6480464;7240710 11721054 10393201;16713580;10391904;11278605;18815223;18805785;18583934;18406216;18092167;18045533;17660820;17660818;17440703;17357087;17355961;17293595;17224176;17081983;16845398;16818237;16344560;16189514;15489334;14702039;12624136;12477932;10827106;9851434;8592332;8206943;3239950;19120481;19362700;19442247;19617005;20192983;22071149;20496420;20799324;20871604;22893130;21103663;17846997;21270825;21808053;21937424;11279105;18724932;19266025;19478477;20511593;21478870;22367235;20301648;22829693;23251661;22526516 11277 C9J052;Q5TZT0;Q9NSU2 ABBA01024647;AC104448;AF151105;AF483777;AJ243797;AK315196;AL137745;AMYH01013149;BC019863;BC023630;BQ933154;BT020052;BT020053;CH471055;CR457119;DA364183;DA850044;NG_009820;NM_007248;NM_016381;NM_033629 AAD48774;AAH23630;AAI60084;AAL82504;AAV38855;AAV38856;ACE87047;ACE87729;BAG37636;CAB50866;CAG33400;EAW64883;NP_009179;NP_057465;NP_338599;Q9NSU2 Hs.707026;Hs.713742;Hs.744646 1338635;1797000;1848310;2135800;2165349 D3S3563;STS-Z41083;TREX1_1109;WI-11814;WI-21042 AGS1;CRV;DKFZp434J0310;DRN3;HERNS 3' repair exonuclease 1;3'-5' exonuclease TREX1;DNase III;OTTHUMP00000210132;OTTHUMP00000210133;OTTHUMP00000210134;OTTHUMP00000210135;deoxyribonuclease III;deoxyribonuclease III, dnaQ/mutD-like;three prime repair exonuclease 1 APPROVED protein-coding ENSG00000213689 12269 09423 152700;192315;225750;606609;610448 REVIEWED 1354135 TREX2 three prime repair exonuclease 2 This gene encodes a nuclear protein with 3' to 5' exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [provided by RefSeq, Nov 2012] X X q28 152363372 152365139 - 152710178 152711945 - 5490977;6480464 20973890 10391904;19321497;19094998;18534978;18092167;17426129;16395595;16381901;16189514;15661738;15581481;15489336;15489334;12806015;12500544;12477932;11988770;11279105;11278605;11256614;11163772;11076863;9099879;21546543;17909011;21079684;22027841;15596820 11219 Q06S70;Q9BQ50 ABBA01045398;AF151107;AMYH01023290;AW296654;CH471172;DQ145722;NG_029986;NM_080701;U82695 AAD48776;AAI56245;AAI57022;AAZ38719;ABM82688;EAW72870;NP_542432;Q9BQ50 Hs.644635 2140925;2167932 A002T09;DXS6999E 3'-5' exonuclease TREX2 long form;OTTHUMP00000025920;OTTHUMP00000025922;three prime repair exonuclease 2 APPROVED protein-coding ENSG00000183479 12270 02299 300370 REVIEWED 1347268 TRIAP1P1 TP53 regulated inhibitor of apoptosis 1 pseudogene 1 10 p12.1 27665877 27667328 - 100289619;338617 ABBA01034391;AL355493;AMYH01002205;NG_027980 C10orf135;bA748L13.4 APPROVED pseudo 31659 INFERRED 730936 TRHDE thyrotropin-releasing hormone degrading enzyme This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provided by RefSeq, Dec 2008] 12 12 12 q15-q21 72329850 72723987 + 70952730 71345689 + 72666529 73059422 + 6480464 10491199;12975309;12477932;10662590;21452313;20379614;20237162;19913121;20628086;20856200 29953 H0YHU0;Q9UKU6 ABBA01026500;ABBA01026501;ABBA01026502;AC016256;AC078921;AC087886;AC133480;AF126372;AK026034;AMYH01004580;AMYH01004581;AMYH01004582;AMYH01004583;AY358765;BC023230;BC142706;BC150181;CH471054;NM_013381 AAF13141;AAI42707;AAI50182;AAQ89125;EAW97281;NP_037513;Q9UKU6 Hs.199814 1336403;1656384;1663443;1710200;1714769;1728023;1746957;1746959;1761501;2133840;2150444;2176943;2220568;5021976 D12S1039;D12S1040;D12S1447;G63282;G64742;G64826;RH120050;SHGC-145505;SHGC-31877;SHGC-83725;UniSTS:485413;WI-13400;WI-19884;contig_91819 FLJ22381;PAP-II;PGPEP2;TRH-DE OTTHUMP00000241843;TRH-degrading ectoenzyme;TRH-specific aminopeptidase;pyroglutamyl aminopeptidase II;pyroglutamyl-peptidase II;thyroliberinase;thyrotropin-releasing hormone degrading ectoenzyme;thyrotropin-releasing hormone-degrading ectoenzyme APPROVED protein-coding ENSG00000072657 30748 09506 606950 REVIEWED 1603520 TRHDE-AS1 TRHDE antisense RNA 1 12 12 12 q21.1 72310608 72330610 - 70942594 70953531 - 72647287 72667289 - 16344560;14702039;12477932 283392 AA868510;ABBA01026502;AC087886;AK095156;AMYH01004580;BC040230;BC093901;BC093903;DA024500;DA139014;DR005853;NR_026836;NR_026837 BAG52994 Hs.363603 1665987;2220568 UniSTS:485413;WI-17109 APPROVED miscrna ENSG00000236333 27471 18764 PREDICTED 1353087 TRICY1 trichilemmal cyst 1 7240710 94014 12302 69154 TRH thyrotropin-releasing hormone This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [provided by RefSeq, May 2013] 3 3 q13.3-q21 131176253 131179470 + 129693114 129696778 + 1600406;1600414;1580863;6480464;7240710 17227965;16926379 2126343;19453261;19299458;19086053;18805917;17137217;16344560;15489334;15328193;15117874;14764629;12477932;12473660;12270926;12067454;11914577;10702693;9794253;7816190;7647472;7501234;1904138;1900134;19913121;20628086;19825978;20398908;20468064;8395824;20687402;18577758;16754659;21956127;22378876;20074584;22710260;22719854;22759379;22967761;23087672;23143598;23146791;23215350;23248581;23373458;23387883;23524276;23585666 7200 D6RFM1;P20396 ABBA01059211;AC083906;AK313473;AMYH01013484;AW205952;BC069375;BC074888;BC074889;BC110515;BC110516;BE670731;CH471052;DA515022;DA526260;M63580;M63581;M63582;NG_027816;NM_007117 AAA36480;AAH69375;AAH74888;AAH74889;AAI10516;AAI10517;BAG36258;EAW79229;NP_009048;P20396 Hs.182231;Hs.732877 1679317;1853390;2125329;2136243;2218622 RH80283;SGC35605;STS-M63582;TRH_4173;WI-22671 MGC125964;MGC125965;Pro-TRH;TRF OTTHUMP00000216039;OTTHUMP00000216040;TSH-releasing factor;pro-thyrotropin-releasing hormone;prothyroliberin;protirelin;thyrotropin releasing hormone;thyrotropin-releasing factor APPROVED protein-coding ENSG00000170893 12298 08944 275120;613879 REVIEWED 737056 TRHR thyrotropin-releasing hormone receptor This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011] 8 8 q23 110168900 110200989 + 110099653 110131813 + 1580863;1580744;6480464;7240710 11566956 8395824;19086053;18724972;16020481;15489334;15117874;14599121;12805411;12477932;12393857;12023974;11278883;9886052;9794253;9141550;8770906;8703031;8396925;8243797;8128317;8005602;7918619;7501234;19268274;19541745;19906838;20345371;22240728 7201 P34981 A41809;ABBA01037709;AC104945;AJ011701;AMYH01018958;AY493373;BC105045;BC113360;CH471060;D16845;D85376;NG_017161;NM_003301;S75283;X72089;X75071 AAB32222;AAI05046;AAI13361;AAR84356;ADR82960;BAA04120;BAA12796;CAA02627;CAA09746;CAA50979;CAA52965;EAW91923;NP_003292;P34981 Hs.3022 1797192;2218110 TRHR;TRHR_3050 MGC141920;TRH-R OTTHUMP00000227881;TRH-R;thyroliberin receptor;thyrotropin releasing hormone receptor;thyrotropin-releasing hormone receptor APPROVED protein-coding ENSG00000174417 12299 11767 188545 REVIEWED 1351441 TRIB2 tribbles homolog 2 (Drosophila) This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 2 2 p24.3 12774659 12800311 + 12856998 12882860 + 737633;1580863;6480464 12477932 18029348;18952906;18643775;17545167;17097562;16963228;16715410;15950723;15815621;15489334;15299019;15146197;12736262;9342215;22589742;22775572;22271508;8889548;20005259;20614846;20614847;20805362;20944657;12791994;16713569;17576771;19656773;20160349;20208562;20468071;21832049;21399661;23455924;23550039;21988832;23071539;23108367;23064961 28951 B5MCX4;F8WA18;Q92519 ABBA01015664;AC009486;AK129973;AK299146;AK313237;AMYH01010121;AY245544;BC002637;BQ188880;CH471053;CN293921;D87119;DC379987;NG_011644;NM_021643;NR_027303 AAH02637;AAO89231;AAY15015;BAA13250;BAG36048;BAH12958;EAX00907;EAX00908;EAX00909;NP_067675;Q92519 Hs.467751 1651414;1673728;1768019;2124639 G19140;RH12451;STS-Z40317;WIAF-2088 C5FW;FLJ57420;GS3955;TRB2 OTTHUMP00000115687;TRB-2;tribbles homolog 2 APPROVED protein-coding ENSG00000071575 30809 18224 609462 REVIEWED 1602327 TRIAP1 TP53 regulated inhibitor of apoptosis 1 12 12 12 q24.31 120516476 120518927 - 119366147 119368598 - 120881764 120884215 - 6480464 15735003;19171422;16541075;15489334;12477932;11042152;15735665;20877624;16712791;21890473;21901158;21988832 51499 O43715 ABBA01020121;AF161481;AK312006;AL021546;AMYH01004801;BC002638;BC055313;CB141335;CH471054;NM_016399;U75688 AAF29096;AAH02638;AAH55313;AAR00584;ABM84017;ABM87362;BAG34944;EAW98192;NP_057483;O43715 Hs.69499 1666545;1853821;2109413 HSPC132_9727;RH41987;RH48830 HSPC132;MDM35;P53CSV;WF-1 OTTHUMP00000045453;TP53-regulated inhibitor of apoptosis 1;mitochondrial distribution and morphology 35 homolog;p53-inducible cell-survival factor;protein 15E1.1 protein-coding ENSG00000170855 26937 13698 614943 VALIDATED 4143834 TRIL TLR4 interactor with leucine-rich repeats TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010] 7 7 7 p14.3 28982554 28987608 - 28959499 28964554 - 28992974 28998029 - 6480464 12477932;12690205;19710467;19834535;9734811;9776767;21911501 9865 Q7L0X0 AACC02000007;AB014544;ABBA01056793;AC005013;AMYH01017140;BC036337;CD580022;CH236948;CH471073;NM_014817 AAH36337;BAA31619;EAL24208;EAL24209;EAW93913;NP_055632;Q7L0X0 Hs.744120 1683585;2137505;5106598;7184949 A004Y37;D3S1315;RH45431;RH91399 KIAA0644 TLR4 interactor with leucine rich repeats APPROVED protein-coding 22200 613356 VALIDATED 1354037 TRIB1 tribbles homolog 1 (Drosophila) 8 8 q24.13 126511745 126519827 + 126442563 126450645 + 1580863;6480464 15299019;17452330;17724128;19148283;19060911;19060906;18987386;18596051;18193044;18193043;16715410;15489334;14702039;12736262;12477932;10727209;9342215;16595688;20570916;20571754;20679960;20692138;19487539;19656773;20160193;19760754;20972250;21071687;20005259;20610816;20864672;20339536;21053424;21386085;21691831;22274752;22418572;23550039;22145581;22294728;20686565;22001757;22479202;21906983;22623531;19322201;23417677;23128233;23251661;22832862 10221 B4DMM6;E5RFH4;Q96RU8 ABBA01037918;AC091114;AF205437;AF250310;AJ000480;AK001319;AK022787;AK297539;AL832388;AMYH01019010;BC012441;BC063292;CH471060;FB713563;FJ515869;JA528975;NM_025195 AAG35663;AAH63292;AAK58174;ACS13752;BAG59938;CAA04119;CAI46181;CAS91544;CCD74463;EAW92085;NP_079471;Q96RU8 Hs.444947 1686018;2108593 RH98362;TRIB1_9064 C8FW;GIG2;SKIP1;TRB1 G-protein-coupled receptor induced protein;G-protein-coupled receptor-induced gene 2 protein;G-protein-coupled receptor-induced protein 2;GIG-2;OTTHUMP00000228187;TRB-1;phosphoprotein regulated by mitogenic pathways;tribbles homolog 1;tribbles-like protein 1 protein-coding ENSG00000173334 16891 09863 609461 VALIDATED 1349784 TRIM10 tripartite motif containing 10 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31717991 31726978 - 30227701 30236690 - 30119722 30128711 - 1580863;6480464 16702430;12477932;11331580;11006080;10207104;9271628;8304341;19851445;20041166;21143188;22939624 10107 Q9UDY6 AB088089;AB103595;AB202085;ABBA01038041;AF220122;AF220123;AL360163;AL360164;AL669914;AL671859;AL844220;AMYH01016204;BA000025;BC093926;BC113419;BX005441;BX927221;CH471081;CR753815;CR759838;CR788282;L19497;NM_006778;NM_052828;Y07829 AAA72392;AAG53495;AAG53496;AAH93926;AAI13420;BAB63332;BAC54921;BAE78605;BAF31256;CAB52384;EAX03268;EAX03269;EAX03270;NP_006769;NP_439893;Q9UDY6 Hs.709483 1675139;1707336;1768768;1768770;1769940;1769942;2161546;2173369;2180162;2218624 G24073;RH35894;RH36278;RH46708;RH46821;RH68466;SGC34813;SHGC-17229;SHGC-79289;TRIM10__3757 HERF1;MGC141979;RFB30;RNF9 B30-RING finger protein;OTTHUMP00000029429;OTTHUMP00000029430;Zn-finger protein;hematopoietic RING finger 1;ring finger protein 9;tripartite motif protein 10;tripartite motif-containing 10;tripartite motif-containing protein 10 APPROVED protein-coding ENSG00000204613 10072 05752 605701 VALIDATED 1345491 TRIB3 tribbles homolog 3 (Drosophila) The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. [provided by RefSeq, Jul 2008] 20 20 p13-p12.2 309308 326203 + 361308 378203 + 1580863;6480464 12743605;15299019;19389818;19291425;19180501;18984671;18660489;18436806;17576816;20606298;22274752;18408768;18276110;18187772;17872950;17707795;17369260;17112672;16966378;16887816;16715410;16169070;16129579;16123373;15781252;15775988;15489334;14702039;13679039;12791994;12736262;12477932;11780052;8125298;19913121;20628086;20693163;16794074;17576771;18029348;19139803;19389115;19505541;19904274;20064487;20139130;20393693;21130836;20461355;20592469;21220698;21203563;21435438;21832049;22977230;16147992;21492415;21935927;21896644;23185332;23319603;21572435;21704407;21864376;22912727;22577090;23349842;23455924;23550039 57761 B0QYQ2;J3KR25;Q96RU7 ABBA01053748;AF250311;AJ697936;AK026945;AK222837;AK297546;AL034548;AMYH01011652;AMYH01011653;AMYH01011654;AY247738;BC019363;BC027484;BG828172;CH471133;CR457366;HI204121;NM_021158 AAH19363;AAH27484;AAK58175;AAP04407;BAB15597;BAD96557;BAG59941;CAG27047;CAG33647;CBX54009;EAX10678;NP_066981;Q96RU7 Hs.516826 2151925;2154194;2182645 STS-U02019;WI-15969;Z94712 C20orf97;NIPK;SINK;SKIP3;TRB3 OTTHUMP00000029910;OTTHUMP00000198129;TRB-3;neuronal cell death inducible putative kinase;neuronal cell death-inducible putative kinase;p65-interacting inhibitor of NF-kappa-B;p65-interacting inhibitor of NF-kappaB;tribbles homolog 3 APPROVED protein-coding ENSG00000101255 16228 09836 607898 REVIEWED 1316901 TRIM13 tripartite motif containing 13 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 13 q14 31625838 31647244 + 49469144 49490604 + 50571143 50592603 + 1580863;6480464 12761501;9599022;18029348;17314412;16499869;15489334;15188451;15057823;14702039;14499696;12477932;11331580;11264177;11161783;21333377;21186355;21900206;22178386;21139048;21906983 10206 O60858 ABBA01051034;AF220127;AF220128;AF241849;AF241850;AF279660;AJ224819;AK001806;AK056841;AK314496;AL137060;AL360196;AL391993;AL832695;AMYH01005112;AY191002;AY455758;AY764035;BC003579;BC029514;BC055420;BC063407;BI668033;CH471075;HC025770;NM_001007278;NM_005798;NM_052811;NM_213590 AAF91315;AAG53500;AAG53501;AAH03579;AAH63407;AAK13059;AAK51624;AAO38979;AAR31110;AAV51406;ABM83496;ABM86711;BAG37096;CAA12136;CAD38633;CBH19816;EAX08844;EAX08845;EAX08846;EAX08847;EAX08848;NP_001007279;NP_005789;NP_434698;NP_998755;O60858 Hs.436922 1654760;1690322;1740833;1851231;5017755;5020948;5022450;5022578;5118444;5123881 D10S275;D11S3316;D13S1476;D1S1423;G35510;RH44787;RH45034;RH94230;TRIM13;WI-10171 CAR;DLEU5;LEU5;RFP2;RNF77 B-cell chronic lymphocytic leukemia tumor suppressor Leu5;CLL-associated RING finger;E3 ubiquitin-protein ligase TRIM13;OTTHUMP00000018430;OTTHUMP00000018431;OTTHUMP00000018432;OTTHUMP00000018433;OTTHUMP00000215013;OTTHUMP00000215014;RING finger protein 77;leukemia-associated protein 5;putative tumor suppressor RFP2;ret finger protein 2;tripartite motif protein 13;tripartite motif-containing 13;tripartite motif-containing protein 13 APPROVED protein-coding ENSG00000204977 9976 10414 605661 REVIEWED 1313482 TRIM11 tripartite motif containing 11 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 201771344 201784479 - 226648000 226661140 - 228581377 228594517 - 1580863;6480464 11331580;16098226;19472918;18275850;18248090;16904669;15489334;14702039;12670303;12477932;22307522;22493164;18029348;21143188;21139048;21906983;22505724 81559 Q96F44;R4GMV1;R4GNB9;R4GNC3 ABBA01005836;AF220125;AF327056;AK074866;AK097825;AK226119;AK301859;AK314539;AL360165;AL670729;AMYH01001794;BC011629;BC069227;CH471098;NM_145214 AAG53498;AAH11629;AAH69227;AAM63957;ABZ92544;BAC11254;BAG37129;BAG53535;BAG63300;EAW69871;NP_660215;Q96F44 Hs.13543 2161591;2218114;5019715 A009J23;G32582;TRIM17_3821 BIA1;RNF92 E3 ubiquitin-protein ligase TRIM11;OTTHUMP00000037767;OTTHUMP00000037901;RING finger protein 92;tripartite motif-containing 11;tripartite motif-containing protein 11 APPROVED protein-coding ENSG00000154370 16281 07429 607868 REVIEWED 1323013 TRIM14 tripartite motif containing 14 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 9 9 9 q22.33 71345840 71395772 - 99871384 99921309 - 100831563 100881488 - 6480464 11331580;18978678;15489334;15164053;14702039;12477932;8590280;16751776;22318606;21139048;22505724 9830 B7ZAZ9;F2Z2M2;Q9C020 ABBA01042919;AF220130;AF220131;AK055833;AK097480;AK292825;AK303366;AL137073;AMYH01021560;BC006333;CH471105;D50919;NM_014788;NM_033219;NM_033220 AAG53503;AAG53504;AAH06333;ABM84219;ABM87622;BAA09478;BAC05071;BAF85514;BAG64424;EAW58870;EAW58871;EAW58872;EAW58873;EAW58874;EAW58875;EAW58876;EAW58877;EAW58878;NP_055603;NP_150088;NP_150089;Q14142 Hs.575631 1677644;1758601;1850680;2123858;2134855;2171123;2177021;2218112;5022651;5024039 A008O24;D11S2921;D16S325;D2S1263;D9S1703;RH25352;RH71443;SHGC-148909;STS-N37069;TRIM14_3750 KIAA0129 OTTHUMP00000021761;OTTHUMP00000021762;OTTHUMP00000021764;tripartite motif protein TRIM14;tripartite motif-containing 14;tripartite motif-containing protein 14 APPROVED protein-coding ENSG00000106785 16283 05948 606556 REVIEWED 1606449 TRIM16L tripartite motif containing 16-like 17 17 p11.2 18566127 18580156 + 18625402 18639431 + 6480464 15489334;12477932 147166 C9JWX7;I3L1X9;I3L2F3;I3L3K9;J3KPT5;J3KSX4;Q309B1 ABBA01002387;ABBA01002388;AC107982;AK293428;AK298836;AK301639;AK301647;AK316368;AMYH01008179;AMYH01008180;BC127827;BC128591;BC146902;BC146907;DQ232882;NM_001037330 AAI27828;AAI28592;AAI46903;AAI46908;ABB18375;BAG56933;BAG60964;BAG63120;BAH13530;BAH14739;NP_001032407;Q309B1 Hs.164324 1684038;5022200;5037552;5093080 D8S2279;G32507;L18426;RH67196 TRIM70 OTTHUMP00000065075;OTTHUMP00000065215;OTTHUMP00000065216;tripartite motif protein 70;tripartite motif-containing 16-like;tripartite motif-containing protein 16-like protein;tripartite motif-containing protein 70 APPROVED protein-coding ENSG00000108448 32670 18731 PROVISIONAL 1322537 TRIM15 tripartite motif containing 15 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31729242 31738732 + 30238962 30248452 + 30130983 30140473 + 1580863;6480464 10207104;18248090;16702430;15489334;15342556;12477932;11331580;8812418;8304341;19549727;20211142;19851445;20379614;20466734;17207965;21044950;22493164 89870 A6NL11;H0Y5R0;Q5SRL0;Q9C019 AB088089;AB103595;AB202085;ABBA01038041;AF220132;AF220133;AI739162;AK290280;AK291853;AL669914;AL671855;AL671859;AL844220;AL845450;AMYH01016204;BA000025;BC038585;BP270476;BX005441;BX248419;BX927221;CH471081;CR388382;CR759838;CR788282;NM_033229;U34249 AAD03787;AAG53505;AAG53506;AAH38585;ADQ31792;BAB63331;BAC54922;BAE78606;BAF31257;BAF82969;BAF84542;EAX03271;NP_150232;Q9C019 Hs.591789;Hs.606488 1767827;2189635;2220136 C5_4_5;D6S2964;STS-H80869 RNF93;ZNF178;ZNFB7 OTTHUMP00000029038;RING finger protein 93;tripartite motif-containing 15;tripartite motif-containing protein 15;zinc finger protein 178;zinc finger protein B7 APPROVED protein-coding ENSG00000204610 16284 15551 REVIEWED 1348776 TRIM16 tripartite motif containing 16 This gene was identified as an estrogen and anti-estrogen regulated gene in epithelial cells stably expressing estrogen receptor. The protein encoded by this gene contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. The proteins of this family have been reported to be involved in a variety of biological processes including cell growth, differentiation and pathogenesis. Expression of this gene was detected in most tissues. Its function, however, has not yet been determined. [provided by RefSeq, Jul 2008] 17 17 p11.2 15472005 15526918 - 15531280 15586193 - 1580863;6480464 16636064;16575408;19147277;11919186;16079077;9817599;15489334;15302935;14702039;12477932;11331580;16169070;18029348;20729920;22629402;21832049;22863883;21044950 10626 B3KP96;J3QKY5;J3QL38;J3QLP0;J3QR69;K7EJH2;K7EL43;K7ENN8;O95361 ABBA01035680;ABBA01035681;ABBA01035682;AC005324;AF096870;AK002035;AK056026;AK314557;AMYH01008135;AMYH01008136;AMYH01008137;AMYH01008138;AMYH01008139;AMYH01008140;AMYH01008141;AMYH01008142;BC001564;BC015674;BC053514;BC067096;CH878675;CR457136;GN344137;NM_006470 AAC79080;AAH01564;AAH53514;AAH67096;ABZ92466;ADR82719;BAG37142;BAG51004;BAG51608;CAG33417;CAY56004;EAW50853;NP_006461;O95361 Hs.123534 1684038;1690300;5037552;5093080 D8S2279;G32507;RH67196;RH74977 DKFZp434O1826;EBBP OTTHUMP00000065085;OTTHUMP00000065086;estrogen-responsive B box protein;tripartite motif-containing 16;tripartite motif-containing protein 16 APPROVED protein-coding ENSG00000221926 17241 15552 609505 REVIEWED 736909 TRIM17 tripartite motif containing 17 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42 201785592 201794538 - 226662264 226670977 - 228595636 228604583 - 68839;1580863;6480464 9792805 19358823;16344560;16189514;15489334;14702039;12477932;11331580;10894938;19549727;19472918;23105109;22023800;21143188;22493164 51127 E5RI62;E5RJW6;J3KNZ3;J3KQG0;Q9Y577 ABBA01005836;AF156271;AK055426;AK301105;AK308774;AK316379;AL139288;AL670729;AMYH01001794;AW770403;BC023999;BC033788;BI825739;BI831987;BM563820;CH471098;DA270450;DB031719;DC309740;NM_001024940;NM_001134855;NM_016102 AAD40286;AAH33788;BAG51516;BAG62704;BAH14750;EAW69872;EAW69873;EAW69874;EAW69875;EAW69876;NP_001020111;NP_001128327;NP_057186;Q9Y577 Hs.121748 2218114 TRIM17_3821 RBCC;RNF16;terf E3 ubiquitin-protein ligase TRIM17;OTTHUMP00000037902;OTTHUMP00000037903;OTTHUMP00000037904;OTTHUMP00000228236;OTTHUMP00000228237;RING finger protein terf;ring finger protein 16;testis RING finger protein;tripartite motif protein 17;tripartite motif-containing 17;tripartite motif-containing protein 17 APPROVED protein-coding ENSG00000162931 13430 05839 606123 REVIEWED 1322189 TRIM2 tripartite motif containing 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. Its function has not been identified. [provided by RefSeq, Jul 2008] 4 4 4 q31.3 151399157 151585007 + 154345068 154479918 + 154074270 154260474 + 1580863;6480464 15489334;11432975;12670303;19549727;19690564;11331580;16189514;12477932;9628581;20379614;21654844;21478148;17043677;19322201;21143188;21720722;22493164 23321 C9J084;C9JVI3;Q9C040 AB011089;ABBA01070131;ABBA01070132;ABBA01070133;ABBA01070134;ABBA01070135;ABBA01070136;AC013477;AC114791;AF220018;AK000179;AK308731;AL110178;AL110234;AMYH01014627;AMYH01014628;BC005016;BC011052;BC019242;BC025417;CH471056;GN088456;GN337716;NM_001130067;NM_015271 AAG53472;AAH05016;AAH11052;ADZ16100;BAA25443;CAB53687;CAX86997;CAY39311;EAX04960;EAX04961;EAX04962;EAX04963;NP_001123539;NP_056086;Q9C040 Hs.435711 1669228;1672856;1681426;1687860;1798296;2138525;2140518;2151743 D15S1185;D4S1079;D4S2654;RH47926;RH66139;RH92384;SHGC-59637;TRIM2_2070 KIAA0517;RNF86 E3 ubiquitin-protein ligase TRIM2;OTTHUMP00000209036;OTTHUMP00000209037;RING finger protein 86;tripartite motif protein 2;tripartite motif protein TRIM2;tripartite motif-containing 2;tripartite motif-containing protein 2 APPROVED protein-coding ENSG00000109654 15974 10279 614141 VALIDATED 1348872 TRIM26BP tripartite motif containing 26B, pseudogene 6 6 p21 31804281 31808257 + 30206078 30210056 + 10557312 404024 AB023053;ABBA01038041;AL662782;AL662832;AL844220;AMYH01016204;BX248419;BX927189;CR388382;CT009520;NG_023052 TRIM26P;TRIM26P1 APPROVED pseudo 31338 INFERRED 1345175 TRIM21 tripartite motif containing 21 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] 11 11 p15.5 4362703 4371502 - 4406127 4414926 - 6480464;6907045 1985112;11461834;17156811;7832745;19265157;19201475;18845142;18641315;18420815;18361920;18272178;18071879;17552056;17400754;17118455;16906225;16880511;16775307;16670339;16630135;16472766;16403452;16356190;16316627;16297862;16200587;16189514;16095123;15916807;15489334;15342556;15324660;12646630;12477932;12127959;11331580;11263778;11251884;10785401;10022600;9933563;8882420;8625517;8125298;8094596;7713506;7561701;2450143;22288650;1985094;1610705;16828831;18312418;11971985;16051665;18022694;19201866;21862588;20628624;17579016;18029348;19615732;19675099;20013343;20936779;20627395;20224770;21045130;20668674;21183682;22704838;23105109;23106098;23383273;20585571;16335966;19167051;22394602;23357050;21987572;22178074;20697732;21575865;21319273;22479513;22647693;22493164;21150319;21565611;23153538;23438482;23455675;18799572;19380743;21264255;22505724;22797925 6737 F5H012;H0YDP8;P19474 ABBA01028638;ABBA01028639;AC009758;AF391283;AK225564;AMYH01003359;AW575137;AY742713;BC010861;BP280435;BP288941;BU594670;CH471064;FB775520;M34551;M62800;NM_003141;U01882;U13657;U13658 AAA36581;AAA36651;AAA79867;AAB87094;AAH10861;AAK76432;AAU89982;ABZ92235;CAV30717;EAW68845;NP_003132;P19474 Hs.532357 1667978;2108527 SSA1_8646;WI-9239 RNF81;RO52;SSA;SSA1 52 kDa Ro protein;52 kDa ribonucleoprotein autoantigen Ro/SS-A;E3 ubiquitin-protein ligase TRIM21;OTTHUMP00000230775;RING finger protein 81;SS-A;Sicca syndrome antigen A;Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro);ro(SS-A);sjoegren syndrome type A antigen;tripartite motif-containing 21;tripartite motif-containing protein 21 APPROVED protein-coding ENSG00000132109 11312 00170 109092 REVIEWED 1350727 TRIM24 tripartite motif containing 24 The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 7 7 q32-q34 137795619 137920873 + 138145079 138270333 + 1580863;6480464;6484676;7240710 19471584 11313457;9115274;17287283;17081983;16643855;12690205;22666376;12393749;19197348;19909775;12684500;12677068;12477932;12096914;11986951;11851396;11518808;11331580;10935545;10610177;10598587;10562550;10439047;10318760;10022127;9632676;9191165;9016654;9774463;19556538;20211142;19690564;12503607;21164480;11500849;21435435;9259327;22939629;18029348;22123502;8598193;22389628;21139048;21693764;21890473;21906983;19471022;22493164 8805 O15164 AA844662;AACC02000025;ABBA01001167;ABBA01001168;ABBA01001169;AC008265;AC013429;AF009353;AF119042;AK075306;AK302679;AK312610;AL360186;AMYH01017969;BC028689;CB988362;CH236950;CH471070;CQ783904;HC357204;NG_023286;NM_003852;NM_015905 AAB63585;AAD17258;AAH28689;BAG52105;BAG63911;CAF86917;CBJ56868;EAL24046;EAL24047;EAW83884;EAW83885;EAW83886;NP_003843;NP_056989;O15164 Hs.490287 1340420;1689201;1697130;1787702;1789522;1789526;1789528;1849226;2181232;2218094;7185303 D7S1449;D7S2560;D7S3181;D7S3185;D7S3186;RH102050;RH40971;RH46506;SHGC-172979;TIF1_3491 PTC6;RNF82;TF1A;TIF1;TIF1A;TIF1ALPHA;hTIF1 E3 ubiquitin-protein ligase TRIM24;OTTHUMP00000208723;OTTHUMP00000208725;RING finger protein 82;TIF1-alpha;transcription intermediary factor 1-alpha;transcriptional intermediary factor 1;tripartite motif protein 24;tripartite motif-containing 24;tripartite motif-containing protein 24 APPROVED protein-coding ENSG00000122779 11812 04556 188550;603406 REVIEWED 1347688 TRIM22 tripartite motif containing 22 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] 11 11 p15 5667495 5688669 + 5710817 5732093 + 1580863;6480464 7797467;17156811;18029348;19585648;19481078;19218198;19212762;18656448;17970695;17567994;16926043;16713569;15489334;15203218;15064739;12539042;12477932;11331580;11096452;8661041;19943174;19902255;20001730;20006605;20211142;20980524;21345949;18389079;21651891;21683060;21139048;21890473;21988832;22509910;23000965;19694548;21264255 10346 B4DQS5;C9J060;C9JIU5;C9JWC5;H7BZD3;H7C262;H7C2K0;H7C376;Q8IYM9 ABBA01028655;AC015691;AC109341;AK290434;AK298715;AK298934;AK301192;AK308221;AK308796;AK310098;AL360134;AL360187;AL360190;AM040752;AMYH01003365;BC022281;BC035582;CD621768;CH471064;DC364428;HQ842635;NM_001199573;NM_006074;X82200 AAH22281;AAH35582;ABM82127;ABM85310;ADY69767;BAF83123;BAG60871;BAG61037;BAG62772;CAA57684;CAJ13842;EAW68767;EAW68768;EAW68769;EAW68770;NP_001186502;NP_006065;Q8IYM9 Hs.501778;Hs.684559;Hs.733231 1663250;1663372;1721115;1766553;1799250;1800094;1800698;1804400;1806012;1808250;1808958;1810254;1811148;1821266;1831328;1832254;1835738;1836824;1839310;1841262;1844802;1846196;2056098;2056100;2056102;2056104;2056106;2056108;2056110;2056112;2056114;2056116;2056118;2056120;2056122;2056124;2056126;2056128;2056130;2056132;2056134;2056136;2056138;2056140;2056142;2056144;2056146;2056148;2056150;2056152;2056154;2056156;2056158;2056160;2056162;2056164;2056166;2056168;2056170;2056172;2056174;2056176;2056178;2056180;2056182;2056184;2056186;2056188;2056190;2056192;2056194;2056196;2056198;2056200;2056202;2056204;2056206;2056208;2056210;2056212;2056214;2056216;2056218;2056220;2056222;2056224;2056226;2056228;2056230;2056232;2056234;2056236;2056238;2056240;2056242;2056244;2056246;2056248;2056250;2056252;2056254;2056256;2056258;2056260;2056262;2056264;2056266;2056268;2056270;2056272;2056274;2056276;2056278;2056280;2056282;2056284;2056286;2056288;2056290;2056292;2056294;2056296;2056298;2106110;2158864;2176982;2191818;2191820;2191822;2191824;2191826;2191828;2191830;2191832;2191834;2191836;2191838;2191840;2191842 D11S4036;ECD00473;ECD00903;ECD01210;ECD03124;ECD03959;ECD05106;ECD05462;ECD06119;ECD06572;ECD11713;ECD16800;ECD17265;ECD19029;ECD19576;ECD20836;ECD21827;ECD23617;ECD24318;G59542;REN99214;REN99215;REN99216;REN99217;REN99218;REN99219;REN99220;REN99221;REN99222;REN99223;REN99224;REN99225;REN99226;REN99227;REN99228;REN99229;REN99230;REN99231;REN99232;REN99233;REN99234;REN99235;REN99236;REN99237;REN99238;REN99239;REN99240;REN99241;REN99242;REN99243;REN99244;REN99245;REN99246;REN99247;REN99248;REN99249;REN99250;REN99251;REN99252;REN99253;REN99254;REN99255;REN99256;REN99257;REN99258;REN99259;REN99260;REN99261;REN99262;REN99263;REN99264;REN99265;REN99266;REN99267;REN99268;REN99269;REN99270;REN99271;REN99272;REN99273;REN99274;REN99275;REN99276;REN99277;REN99278;REN99279;REN99280;REN99281;REN99282;REN99283;REN99284;REN99285;REN99286;REN99287;REN99288;REN99289;REN99290;REN99291;REN99292;REN99293;REN99294;REN99295;REN99296;REN99297;REN99298;REN99299;REN99300;REN99301;REN99302;REN99303;REN99304;REN99305;REN99306;REN99307;REN99308;REN99309;REN99310;REN99311;REN99312;REN99313;REN99314;RH47745;SHGC-149868;SHGC-35504;STS-X82200;stSG611157;stSG611158;stSG611159;stSG611160;stSG611161;stSG611162;stSG611163;stSG611164;stSG611165;stSG611167;stSG611168;stSG611169;stSG611170;stSG611171 GPSTAF50;RNF94;STAF50 50 kDa-stimulated trans-acting factor;E3 ubiquitin-protein ligase TRIM22;OTTHUMP00000069823;OTTHUMP00000069826;RING finger protein 94;staf-50;stimulated trans-acting factor (50 kDa);tripartite binding motif 22;tripartite motif protein TRIM22;tripartite motif-containing 22;tripartite motif-containing protein 22 APPROVED protein-coding ENSG00000132274 16379 05951 606559 REVIEWED 1606340 TRIM23 tripartite motif containing 23 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008] 5 5 q12.3 64921263 64955943 - 64885507 64920187 - 6480464 8700863;8473324;15684077;9671726;19176615;16189514;15489334;12477932;11331580;10982851;10748148;9446556;9312116;17118964;19060904;19549727;20724660;23105109;23088713;21078624;21139048;22493164;22505724 373 D6R9E9;D6RBN4;D6RD22;P36406 ABBA01048329;AC008560;AF230397;AF230398;AF230399;AI679928;AK292814;AMYH01015134;BC022510;BI859501;CH471137;L04510;NM_001656;NM_033227;NM_033228 AAA35940;AAG50176;AAG50177;AAG50178;AAH22510;ABM84572;ABM86510;BAF85503;EAW51349;EAW51350;EAW51351;NP_001647;NP_150230;NP_150231;P36406 Hs.792 1647833;1651048;1675127;1677871;2166582;2166918;2191165 D5S2370;G15935;MARC_15693-15694:1017691889:1;RH41109;RH65883;RH66561;WI-19308 ARD1;ARFD1;RNF46 ADP-ribosylation factor domain protein 1, 64kDa;ADP-ribosylation factor domain-containing protein 1;ARF domain protein 1;E3 ubiquitin-protein ligase TRIM23;GTP-binding protein ARD-1;OTTHUMP00000123452;OTTHUMP00000123453;OTTHUMP00000222562;RING finger protein 46;tripartite motif protein TRIM23;tripartite motif-containing 23;tripartite motif-containing protein 23 APPROVED protein-coding ENSG00000113595 660 03449 601747 REVIEWED 1343933 TRIM25 tripartite motif containing 25 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008] 17 17 q23.2 52320269 52346408 - 54965270 54991409 - 1580863;6480464;6907045 22452784;8248217;18029348;18948594;18391951;17418098;17069755;16271083;16144914;22493164;15592455;15489334;15130519;12943693;12477932;12075357;11331580;10781795;9245730;8889548;7789997;20546612;11591653;16884686;17392790;19148513;19454344;19454348;20127022;11002417;20211142;19549727;16127453;21292167;21266548;21542805;22939629;18781797;20071582;20406818;21139048;21890473;21906983;22114345;21890623;17222803;22350887;22607805;22626058 7706 I3L2W4;Q14258 AB208994;ABBA01041307;AC015912;AK024597;AK310720;AMYH01008498;BC013752;BC016924;BC038247;BC042541;BC053605;BC106889;BC106890;BC114339;BM146967;BX538220;CF121587;CH471109;D21205;NM_005082 AAH16924;AAH42541;BAA04747;BAD92231;EAW94523;EAW94524;EAW94525;NP_005073;Q14258 Hs.528952 1653242;1682173;1729105;1760149;1849085;2123611;2174004;2174564;2181897;5493663 A006U31;D17S1657;D17S1770;D17S2138;RH12279;RH46398;SHGC-132045;Trim25;UniSTS:490148;WI-9306 EFP;RNF147;Z147;ZNF147 E3 ubiquitin/ISG15 ligase TRIM25;RING finger protein 147;estrogen-responsive finger protein;tripartite motif protein TRIM25;tripartite motif-containing 25;tripartite motif-containing protein 25;ubiquitin/ISG15-conjugating enzyme TRIM25;zinc finger protein 147 (estrogen-responsive finger protein);zinc finger protein-147 APPROVED protein-coding ENSG00000121060 12932 02711 600453 REVIEWED 1346405 TRIM26 tripartite motif containing 26 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011] 6 6 6 p21.3 31750448 31779361 - 30260211 30289132 - 30152232 30181271 - 1580863;6480464 8530076;17713163;15489334;14702039;12477932;11331580;9624122;22493164;21145461;17643375;19851445;19394292;19549727;20593013;16159877;20805509;16344560;22939629;16196087;22883433;21987572;22433715;21139048;21890473;21906983;21926974;22294275;22505724;15385968;21963094;21988832;23105109;23453885 7726 A2AE48;A2AE50;A2AE51;Q12899;Q5SPU2 AB088090;AB103596;AB202086;ABBA01038041;AK096996;AK122859;AK314782;AL662782;AL662832;AL671855;AL844220;AL845450;AMYH01016204;BA000025;BC021115;BC024039;BC032297;BX248419;BX927189;BX927221;CB988131;CH471081;CR388382;CR759838;CR788282;DA234548;NM_001242783;NM_003449 AAH24039;AAH32297;BAB63330;BAC54923;BAE78607;BAF31258;EAX03272;EAX03273;EAX03274;EAX03275;EAX03276;NP_001229712;NP_003440;Q12899 Hs.485041;Hs.731863 1677224;1729109;1779169;1790865;1853002;2119550;2139086;2165859;2189633;2220138;7184127 C5_2_3;D6S1944;D6S2198;D6S2267;D6S2704;D6S2848;RH17987;RH37470;RH93306;Trim26 AFP;FLJ16483;RNF95;ZNF173 OTTHUMP00000161458;OTTHUMP00000161459;OTTHUMP00000161460;RING finger protein 95;acid finger protein;tripartite motif-containing 26;tripartite motif-containing protein 26;widely expressed acid zinc finger protein;zinc finger protein 173 APPROVED protein-coding ENSG00000234127 12962 02901 600830 REVIEWED 1320820 TRIM27 tripartite motif containing 27 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008] 6 6 p22 28978758 28999747 - 28870779 28891768 - 1580863;6480464 3380101;9570750;15837424;3078962;2734021;10976108;17156811;19232840;16713569;16393995;16189514;16186106;15489334;14574404;14530259;12807881;12787916;12477932;12445133;11331580;10504338;9923704;16475184;21145461;9247190;8114113;3037315;1437549;16169070;16007160;19549727;17049487;19851445;19351825;20211142;20526338;15907835;18985028;19060904;21963094;23000965;23105109;23452853;16196087;20864041;20972456;21078624;21139048;21890473;22128329;21143188;22556269;22829933;22493164;22053931;22505724;23036196 5987 A2ABL9;B0V297;H0Y551;P14373 AB209885;ABBA01038028;ABBA01038029;AF171101;AF230393;AF230394;AJ420519;AL662859;AL662871;AMYH01016194;AX776009;AX776011;BC013580;BC066924;BX000360;BX005144;BX119924;BX537153;CH471081;CR759942;CR936876;CR936883;CR936965;J03407;NM_006510;Z84474;Z84476 AAA36564;AAF32265;AAG50172;AAG50173;AAH13580;AAH66924;ABM81908;ABM85082;BAD93122;CAB06480;CAE11704;CAE11705;CAI19959;EAX03176;EAX03177;NP_006501;P14373 Hs.440382 1658169;1672328;2140081;2157208;2181248;5014865;5024413 A002Q18;D12S1332;D6S2188;L17877;RH46606;RH46783;WI-20464 RFP;RNF76 OTTHUMP00000029314;OTTHUMP00000107284;RFP transforming protein;RING finger protein 76;ret finger protein;tripartite motif protein TRIM27;tripartite motif-containing 27;tripartite motif-containing protein 27;zinc finger protein RFP APPROVED protein-coding ENSG00000204713 9975 15996 602165 REVIEWED 731725 TRIM3 tripartite motif containing 3 The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 6588902 6614265 - 6426419 6451781 - 6469843 6495689 - 68906;1580863;6480464 10391919 19250537;19165527;17081983;15772161;14702039;12477932;11331580;11170753;10673389;11513855;20173306;19460345;19690564;20543135;16341674;16344560;21143188;23105109 10612 B7Z5Y8;E9PMK8;E9PMW5;F5GX85;O75382 ABBA01028669;AC084337;AF045239;AF220020;AF220021;AF220022;AK122682;AK126685;AK291396;AK298843;AK299586;AK311127;AL122053;AL360185;AL360192;AMYH01003366;AMYH01003367;BC096827;BI916995;BM758857;BU500178;CH471064;DA089323;DA347370;DB344600;GN088458;GN337718;NM_001248006;NM_001248007;NM_006458;NM_033278 AAC24809;AAG53474;AAG53475;AAG53476;AAH96827;BAC86643;BAF84085;BAG53665;BAH12882;BAH13074;CAX86998;CAY39312;EAW68709;EAW68710;EAW68711;EAW68712;EAW68713;EAW68714;EAW68715;EAW68716;EAW68717;NP_001234935;NP_001234936;NP_006449;NP_150594;O75382 Hs.591992 1652014;1654463;1664309;1678705;1685920;2126269;2150150;2152826;2155216;2171572;2171574;2171576;2218116 D11S2266E;D11S2391;D11S4905;RH12618;RH44846;RH47384;RH71141;RH91168;SGC34546;SHGC-30684;STS-Z40796;TRIM3_3216;WI-22461 BERP;FLJ16135;HAC1;RNF22;RNF97 OTTHUMP00000164589;OTTHUMP00000229840;OTTHUMP00000229841;RING finger protein 97;brain expressed ring finger;brain-expressed RING finger protein;ring finger protein 22;tripartite motif protein 3;tripartite motif protein TRIM3;tripartite motif-containing 3;tripartite motif-containing protein 3 APPROVED protein-coding ENSG00000110171 10064 605493 REVIEWED 1318479 TRIM31 tripartite motif containing 31 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to both the cytoplasm and the nucleus. Its function has not been identified. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31668926 31679124 - 30178653 30188846 - 30070674 30080867 - 1580863;6480464 16702430;16341674;15489334;14759258;14574404;12477932;11331580;8490624;8125298;16189514;19851445;16712791;19549727;20211142;21302343;23105109;21231912;21143188;23417110;22493164;20125193 11074 B0V1M0;Q2L6J1;Q96AK4 AB202083;AB303153;ABBA01038041;AF230386;AF230387;AK222729;AK290270;AL669914;AL671859;AMYH01016204;BC016866;BC017017;BM847963;BT006675;BX005441;BX088647;BX322644;BX897730;CB142265;CB147821;CH471081;CR753815;CR759801;CR759838;CR925727;CT009552;NM_007028;X81006;Y07828 AAG50165;AAG50166;AAH16866;AAH17017;AAP35321;ABM85542;BAD96449;BAE78603;BAF82959;BAH58735;CAA69165;CAM26290;EAX03257;EAX03258;EAX03259;EAX03260;EAX03261;EAX03262;EAX03263;NP_008959;Q9BZY9 Hs.493275 2220128 D6S2967 C6orf13;HCG1;HCGI;RNF E3 ubiquitin-protein ligase TRIM31;OTTHUMP00000029073;ring finger protein;tripartite motif-containing 31 gamma;tripartite motif-containing protein 31 APPROVED protein-coding ENSG00000204616 16289 10281 609316 REVIEWED 1317296 TRIM29 tripartite motif containing 29 The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008] 11 11 q23.3 119487204 119514073 - 119981994 120008863 - 1580863;6480464 11331580;16189514;8188213;19249679;17448597;16964243;16890201;15489334;15231748;14702039;12477932;22721621;10719033;8647648;8406440;8125298;7836856;7644499;7530755;1609804;20454669;19430419;20083228;20368352;20379614;20211142;20947501;22490895;23201130;21463657;20360068;22138580;22969067;22990015 23650 B7Z8U9;E9PI31;E9PIQ2;E9PJ25;E9PJ94;E9PJD4;E9PLI4;E9PM74;E9PPX1;E9PRL4;H0YCK2;H0YCT2;H0YD78;H0YF27;Q14134 ABBA01039662;AF230388;AF230389;AK093404;AK122720;AK223090;AK299459;AK299472;AK303969;AL832678;AMYH01004089;AP000679;AP001360;BC010644;BC017352;CH471065;L24203;NM_012101 AAA35762;AAG50167;AAG50168;AAH10644;AAH17352;ABZ92472;ADZ15453;BAD96810;BAH13041;BAH13044;BAH14085;EAW67497;EAW67498;EAW67499;EAW67500;NP_036233;Q14134 Hs.504115 1647097;1659604;1714197;1725509;2111320;2132371;7185394 D11S2052;D11S3982;D11S528;RH119151;RH119709;RH17638 ATDC;FLJ36085 OTTHUMP00000179137;OTTHUMP00000231979;ataxia telangiectasia group D-associated protein;ataxia-telangiectasia group D-associated protein;tripartite motif protein TRIM29;tripartite motif-containing 29;tripartite motif-containing protein 29 APPROVED protein-coding ENSG00000137699 17274 10280 610658 REVIEWED 6481049 TRIM36-IT1 TRIM36 intronic transcript 1 (non-protein coding) 100874338 AC008494 miscrna 41422 1316478 TRIM33 tripartite motif containing 33 The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] 1 1 p13.1 114736922 114855304 - 114935399 115053781 - 1580863;6480464;7240710 20447379;21537084;11331580;10470851;10439047;14527417;15820681;19135894;10022127;16751102;16710414;15146197;14702039;12096914;21474105;20603019;20158380;18029348;19629168;18003620;23160376;23275444;21597466;21726812;21252943;23154409;22046087;22205733;21139048;21693764;21890473;22123502;22196728;19471022;19322201;22461896;21145461;21963094;23000965;21382013 51592 B3KN30;E7EN20;H0Y612;Q9UPN9 AB029036;ABBA01068463;AF119043;AF220136;AF220137;AJ132948;AK021491;AK023434;AK057487;AK301997;AL035410;AL080216;AL390241;AMYH01000965;AMYH01000966;CH471122;CN267696;NG_023287;NM_015906;NM_033020 AAD17259;AAG53509;AAG53510;BAA83065;BAB13834;BAG51192;BAG63401;CAB55313;EAW56599;EAW56600;EAW56601;NP_056990;NP_148980;Q9UPN9 Hs.26837 1687243;1707840;1722461;1736913;1854918;2130912;2138830;2163651;2172409;2186567 AL009900;D1S2219;G61971;RH65165;SHGC-75347;SHGC-75356;SHGC-75362;SHGC-75367;SHGC-82151;WI-12516 ECTO;FLJ32925;PTC7;RFG7;TF1G;TIF1G;TIF1GAMMA;TIFGAMMA E3 ubiquitin-protein ligase TRIM33;OTTHUMP00000013662;OTTHUMP00000013663;OTTHUMP00000013664;RET-fused gene 7 protein;TIF1-gamma;ectodermin homolog;protein Rfg7;transcription intermediary factor 1-gamma;transcriptional intermediary factor 1 gamma;tripartite motif-containing 33;tripartite motif-containing protein 33 APPROVED protein-coding ENSG00000197323 16290 10423 188550;605769 REVIEWED 1322062 TRIM34 tripartite motif containing 34 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from the upstream TRIM6 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010] 11 11 11 p15 5759992 5784582 + 5597750 5622204 + 5641174 5665628 + 6480464 17156811;16344560;14702039;11331580;11013086;16828831;16775307;19549727;19690564;18159944;23105109;21906983;22318606;21680743;22493164;22505724 53840 Q9BYJ4 AB039902;AB039904;ABBA01028655;AC015691;AF220143;AF220144;AK027876;AL583914;AMYH01003365;BG682537;BM989990;CH471064;DA847894;DB024660;NM_001003827;NM_021616;NM_130390 AAG53516;AAG53517;AAI56771;BAB17049;BAB17051;BAB55424;CAC29498;EAW68778;EAW68779;EAW68780;NP_001003827;NP_067629;NP_569074;Q9BYJ4 Hs.729048 1799750;1804342;1804398;1807762;1808382;1813734;1814920;1819910;1819912;1821058;1821648;1823756;1824804;1825442;1825604;1828530;1828784;1829056;1829628;1831744;1832026;1832214;1837702;1840448;1840720;1845656;2054556;2054558;2054560;2054562;2055544;2055546;2055548;2055550;2055552;2055554;2055556;2055558;2055560;2055562;2055564;2055566;2055568;2055570;2055572;2055574;2055576;2055578;2055580;2055582;2055584;2055586;2055588;2055590;2055592;2055594;2055596;2055598;2055600;2055602;2055604;2055606;2055608;2055610;2055612;2055614;2055616;2055618;2055620;2055622;2055624;2055626;2055628;2055630;2055632;2055634;2055636;2055638;2055640;2055642;2055644;2055646;2055648;2055650;2055652;2055654;2055656;2055658;2055660;2055662;2055664;2055666;2055668;2055670;2055672;2055674;2055676;2055678;2055680;2055682;2055684;2055686;2055688;2055690;2055692;2055694;2055696;2055698;2055700;2055702;2055704;2055706;2055708;2055710;2055712;2055714;2055716;2055718;2055720;2055722;2055724;2055726;2055728;2055730;2055732;2055734;2055736;2055738;2055740;2055742;2055744;2055746;2055748;2055750;2055752;2055754;2055756;2055758;2055760;2055762;2105840;2106014;2106016;2106018;2106020;2106022;2106024;2106026;2106028;2106030;2106032;2106034;2106036;2106038;2106040;2106042;2106044;2106046;2106048;2106050;2106052;2106054;2106056;2106058;2108597 ECD00729;ECD03095;ECD03123;ECD04854;ECD05172;ECD07890;ECD08491;ECD11026;ECD11027;ECD11606;ECD11910;ECD12970;ECD13501;ECD13828;ECD13910;ECD15392;ECD15519;ECD15655;ECD15946;ECD17009;ECD17151;ECD17245;ECD20019;ECD21410;ECD21551;ECD24046;REN98440;REN98441;REN98442;REN98443;REN98936;REN98937;REN98938;REN98939;REN98940;REN98941;REN98942;REN98943;REN98944;REN98945;REN98946;REN98947;REN98948;REN98949;REN98950;REN98951;REN98952;REN98953;REN98954;REN98955;REN98956;REN98957;REN98958;REN98959;REN98960;REN98961;REN98962;REN98963;REN98964;REN98965;REN98966;REN98967;REN98968;REN98969;REN98970;REN98971;REN98972;REN98973;REN98974;REN98975;REN98976;REN98977;REN98978;REN98979;REN98980;REN98981;REN98982;REN98983;REN98984;REN98985;REN98986;REN98987;REN98988;REN98989;REN98990;REN98991;REN98992;REN98993;REN98994;REN98995;REN98996;REN98997;REN98998;REN98999;REN99000;REN99001;REN99002;REN99003;REN99004;REN99005;REN99006;REN99007;REN99008;REN99009;REN99010;REN99011;REN99012;REN99013;REN99014;REN99015;REN99016;REN99017;REN99018;REN99019;REN99020;REN99021;REN99022;REN99023;REN99024;REN99025;REN99026;REN99027;REN99028;REN99029;REN99030;REN99031;REN99032;REN99033;REN99034;REN99035;REN99036;REN99037;REN99038;REN99039;REN99040;REN99041;REN99042;REN99043;REN99044;REN99045;TRIM34_8052;stSG611015;stSG611107;stSG611108;stSG611109;stSG611110;stSG611111;stSG611112;stSG611113;stSG611114;stSG611115;stSG611116;stSG611117;stSG611118;stSG611119;stSG611120;stSG611121;stSG611122;stSG611123;stSG611124;stSG611125;stSG611126;stSG611127;stSG611128;stSG611129 IFP1;RNF21 OTTHUMP00000069809;OTTHUMP00000069810;interferon-responsive finger protein 1;ring finger protein 21, interferon-responsive;tripartite motif-containing 34;tripartite motif-containing protein 34 APPROVED protein-coding ENSG00000258588;ENSG00000258659 10063 16141 605684 REVIEWED 736265 TRIM28 tripartite motif containing 28 The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008] 19 19 q13.4 63747648 63753894 + 59055836 59062082 + 1580863;6480464;6484113 22205726;21145461;21252314;21319273;18676401;18590578;18488044;18381204;18060868;17942393;17704056;17542650;17512541;17353931;17178852;17081983;17079232;16964243;16954381;16792528;16169070;16107876;15882967;15635413;15596820;15489334;15302935;12684500;12682018;12477932;12438698;12154074;11959841;11336697;11331592;11331580;11230151;11226167;18854139;8769649;19321449;19279087;11154279;11013263;10938122;10748030;10562550;10347202;10330177;9774463;9742105;9016654;8986806;8125298;12411497;12096914;17141982;19690564;20936779;20424263;16945326;19394292;16568080;17643375;19584288;19656847;19710015;19850934;19898899;20032463;20081839;20085707;20221260;11585818;14761981;16150558;21228624;17403666;17620012;17803295;21343339;23060449;23134341;23184937;21170338;21245151;21382013;20176155;20675861;10653693;18082607;20858735;20508149;20508642;21252943;20562864;22863883;22939629;23022380;21669397;21652716;16196087;17314511;19156129;15161933;20360068;21081666;21791101;21876767;17620599;22496453;17266347;18037959;19738201;19805454;21277283;21988832;22513056;22623428;22975076;23000965;22412018;23402259;23455922;23543754;23569248;17623298;18781797;19471022;19596686;20864041;21139048;21343306;21549307;21642969;21693764;21890473;21906983;21963094;21987572;22055183;22118674;22178446;21888893;22491012;22542455;21098080;21670149;21704408;21940674;10022127;15576338;17056014;20053985;21669392;21853274;22505724;22715096 10155 M0QZE6;M0R0K9;M0R2I3;M0R3C0;Q13263 ABBA01020760;ABBA01020761;AC016630;AK131063;AK225760;AK313478;AL360114;AL360188;AL360189;AMYH01010040;AMYH01010041;BC004978;BC007390;BC052986;CH471135;NM_005762;U31657;U78773;U95040;X97548 AAA74954;AAB37341;AAB51517;AAH04978;AAH07390;AAH52986;BAG36262;CAA66150;EAW72605;EAW72606;EAW72607;NP_005753;Q13263 Hs.467408 1686208;1850931;2189477 Cda0zf05;D5S2433;MARC_7281-7282:992008298:1 FLJ29029;KAP1;RNF96;TF1B;TIF1B E3 SUMO-protein ligase TRIM28;KAP-1;KRAB-associated protein 1;KRAB-interacting protein 1;KRIP-1;RING finger protein 96;TIF1-beta;nuclear corepressor KAP-1;transcription intermediary factor 1-beta;transcriptional intermediary factor 1-beta;tripartite motif protein 28;tripartite motif-containing 28;tripartite motif-containing protein 28 APPROVED protein-coding ENSG00000130726 16384 03445 601742 REVIEWED 5013861 TRIM39-RPP21 TRIM39-RPP21 readthrough This locus represents naturally occurring read-through transcription between the neighboring TRIM39 (tripartite motif-containing 39) and RPP21 (ribonuclease P/MRP 21kDa subunit) genes on chromosome 6. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010] 6 30297088 30314635 + 17601797;20967262 202658 A6ZJ12 ABBA01038041;AI805914;AL662795;AL662832;AL773535;AMYH01016204;BX248580;BX294158;BX927214;CR759281;CR759928;EU012025;NM_001199119 ABR92635;NP_001186048 Hs.413493 5016785 RH94264 TRIM39R OTTHUMP00000219787;Rpp21 domain-containing TRIM protein;TRIM39-RPP21 protein;TRIM39-RPP21 read-through transcript APPROVED protein-coding ENSG00000248167 38845 VALIDATED 1318648 TRIM36 tripartite motif containing 36 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 5 5 5 q22.3 110407870 110463650 - 114488358 114544142 - 114460459 114516243 - 1580863;6480464 19232519;15955891;15145053;12477932;11331580;20379614;19549727 55521 D6RAU9;E9PBG3;E9PFI8;Q9NQ86 AB196558;ABBA01069036;AC008494;AC094104;AI142389;AJ272269;AK058179;AK125426;AK296389;AK316422;AMYH01015554;AMYH01015555;BC017346;BC045164;BC046096;BC130334;BF592910;CH471086;NM_001017397;NM_001017398;NM_018700 AAH45164;AAH46096;AAI30335;BAD99605;BAH12340;BAH14793;CAB94831;EAW48971;EAW48972;NP_001017397;NP_001017398;NP_061170;Q9NQ86 Hs.519514;Hs.638953 1687886;1688678;1721487;2108969;2180465;5094955 FB25G10;G59597;RH92001;RH94386;TRIM36;TRIM36_8064 HAPRIN;RBCC728;RNF98 E3 ubiquitin-protein ligase TRIM36;OTTHUMP00000159132;OTTHUMP00000222915;OTTHUMP00000222916;OTTHUMP00000222917;OTTHUMP00000222918;OTTHUMP00000222919;RING finger protein 98;tripartite motif protein 36;tripartite motif-containing 36;tripartite motif-containing protein 36;zinc-binding protein Rbcc728 APPROVED protein-coding ENSG00000152503 16280 15554 609317 REVIEWED 1313150 TRIM32 tripartite motif containing 32 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008] 9 9 q33.1 118489402 118503400 + 119449581 119463579 + 1624127;1624129;1580863;6480464;6907045;7240710 11822024;16606853 7778269;16189514;19349376;19303295;18632609;17994549;17987106;16816390;16713569;15786463;15489334;15164053;12477932;11331580;9634523;15778465;19913121;20628086;21496629;19549727;19060904;19492423;19690564;20054338;20801516;20301537;16175175;23022380;21628460;21798009;18781797;21415862;21903422;21984809;21987572;21139048;21890473;21906983;22182411;21143188;22745133;21963094;22939624;23000965;23408431;23444366;22493164;12549820;22797925 22954 Q13049;Q5JVY0 ABBA01042642;AK314264;AL133284;AMYH01021678;AX775779;BC003154;BI544919;BX091494;CH471090;DN991209;GN088454;GN337714;NG_011619;NG_021409;NM_001099679;NM_012210;U18543 AAA86474;AAH03154;ABM84007;ABM87341;CAE11589;CAX86996;CAY39310;EAW87446;EAW87447;NP_001093149;NP_036342;Q13049 Hs.591910 1650037;2108595;2132993;2150532;5125522 G31091;RH18010;RH18537;SHGC-35384;TRIM32_8005 BBS11;HT2A;LGMD2H;TATIP 72 kDa Tat-interacting protein;E3 ubiquitin-protein ligase TRIM32;OTTHUMP00000022763;OTTHUMP00000022764;TAT-interactive protein, 72-KD;tripartite motif-containing 32;tripartite motif-containing protein 32;zinc finger protein HT2A;zinc-finger protein HT2A APPROVED protein-coding ENSG00000119401 16380 03797 209900;254110;602290 REVIEWED 1344257 TRIM35 tripartite motif containing 35 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008] 8 8 8 p21.2 26105312 26131742 - 27198321 27224751 - 27142404 27168834 - 1580863;6480464 15489334;14662771;12692137;12477932;11331580;10470851;19549727;19690564;18029348;23105109;16775307;22493164 23087 E5RGB3;H0YBF3;Q9UPQ4 AB029021;ABBA01005586;AC124649;AF492463;AK308236;AMYH01018596;BC018337;BC069226;CH471080;NM_171982 AAH18337;AAH69226;AAO85480;ABZ92310;BAA83050;EAW63557;EAW63558;EAW63559;EAW63560;NP_741983;Q9UPQ4 Hs.104223 1672634;1673419;1700736;2127279;2147136;2179994;5093964 A009Z35;G33026;RH103993;RH35960;RH46973;RH67896;SGC33557 HLS5;KIAA1098;MAIR;MGC17233 OTTHUMP00000128221;OTTHUMP00000225153;hemopoietic lineage switch protein 5;tripartite motif-containing 35;tripartite motif-containing protein 35 APPROVED protein-coding ENSG00000104228 16285 15553 VALIDATED 1349740 TRIM38 tripartite motif containing 38 This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012] 6 6 6 p21.3 27190286 27212582 + 26071050 26093337 + 25962917 25987557 + 1580863;6480464 21789858;12761501;19084217;15489334;12477932;11854271;11331580;9149941;21306652;19690564;21348951;19322201;21143188;16344560;21963094;21988832;23056470;23275563;22323536;22505724 10475 B2R862;O00635 AB209906;ABBA01066552;AK313248;AMYH01016161;BC026930;BX640949;CH471087;CR936707;DA603151;NM_006355;U90547;U91328 AAB53425;AAB82084;AAH26930;ABM85844;ABW03748;ACE86652;ACE87334;BAD93143;BAG36059;CAE45973;EAW55501;EAW55502;EAW55503;EAW55504;EAW55505;EAW55506;NP_006346;O00635 Hs.584851;Hs.742026 1697450;1777664;1785886;2136381;2180590;5037552 D6S1074;D8S2279;RH102226;RH47677;SHGC-132992;SHGC-58405 MGC8946;RNF15;RORET OTTHUMP00000016131;Ro/SSA ribonucleoprotein homolog;ring finger protein 15;tripartite motif-containing 38;tripartite motif-containing protein 38;zinc finger protein RoRet;zinc-finger protein RoRet APPROVED protein-coding 10059 15555 REVIEWED 1345253 TRIM39 tripartite motif containing 39 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 31892811 31909701 + 30403019 30419485 + 30294621 30311506 + 1580863;6480464 16189514;19100260;17601797;16344560;16094384;15489334;12477932;11331580;11006080;22529100;17474147;19094064;19851445;20875797;19549727;23077635;23105109;23213251;23213260;21832049;21890473;22493164 56658 A2AAZ2;A2AAZ3;A2AAZ4;A2AAZ5;A2AAZ6;F5H297;H0Y735;Q9HCM9 AB046381;AB110937;AB110938;AB202089;ABBA01038041;AI159923;AK292512;AL662795;AL662832;AL773535;AMYH01016204;AX776007;BC007661;BC034985;BT007370;BX248580;BX294158;BX927214;CH471081;CR759281;CR759928;DB071507;NM_021253;NM_172016 AAH07661;AAH34985;AAP36034;BAB16374;BAD13703;BAD13704;BAE78608;BAF85201;CAE11703;EAX03283;EAX03284;EAX03285;EAX03286;NP_067076;NP_742013;Q9HCM9 Hs.413493 1650989;1700434;1786130 RH103838;RH46602;SHGC-172553 MGC32984;RNF23;TFP;TRIM39B E3 ubiquitin-protein ligase TRIM39;OTTHUMP00000029075;OTTHUMP00000029076;OTTHUMP00000163582;OTTHUMP00000163583;OTTHUMP00000163588;ring finger protein 23;testis-abundant finger protein;tripartite motif-containing 39;tripartite motif-containing protein 39 APPROVED protein-coding ENSG00000204599 10065 09298 605700 REVIEWED 2311728 TRIM43B tripartite motif containing 43B This gene encodes a member of a family of proteins containing RING-finger, SPRY, and BBC domains. There is no definitive support for transcription of this locus, and the transcript structure is inferred from other family members. [provided by RefSeq, Oct 2009] 2 2 2 q11.1 92133690 92141541 - 95506437 95514206 - 96142715 96150479 - 6480464 15815621 653192 A6NCK2 ABBA01009503;AC009237;AMYH01010696;AMYH01010697;NM_001164464 A6NCK2;NP_001157936 Hs.723811 1647910;1754681 D2S1303;SHGC-133037 Tripartite motif-containing protein 43-like protein 1;tripartite motif-containing 43B;tripartite motif-containing protein 43B APPROVED protein-coding 37146 PROVISIONAL 6483755 TRIM43CP tripartite motif containing 43C, pseudogene 2 q11.2 97691563 97697383 - 643445 ABBA01036563;AC018892;AMYH01010728;NG_028773 pseudo 43981 INFERRED 1318066 TRIM37 tripartite motif containing 37 This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 17 17 q23.2 54414792 54539011 - 57059999 57184266 - 1599667;1580863;6480464;6907045;7240710 10888877 16189514;19329943;17551331;17100991;17081983;16713569;16310976;16306379;15885686;15489334;15146197;15108285;14702039;12754710;12477932;11938494;11578880;11331580;11279055;10048485;9106536;19447967;19549727;19690564;19805454;21988832;22939624;21139048;21906983;19322201;21143188 4591 A8K0V9;A8K8U4;F8WEE6;J3KS72;J3KT32;J3KT90;J3QRK3;J3QSA0;J3QSF6;J3QSH5;O94972 AB020705;ABBA01041356;ABBA01041357;ABBA01041358;ABBA01041359;ABBA01041360;AC005207;AC036154;AC099850;AC100832;AF213365;AI307801;AK022701;AK025648;AK289674;AK292459;AK294850;AMYH01008516;AMYH01008517;BC036012;BG722700;BQ447834;BX537955;CH471109;CN388771;DC351295;NG_009298;NM_001005207;NM_015294 AAH36012;AAL36460;BAA74921;BAF82363;BAF85148;BAG51105;BAG57954;CAD97922;EAW94424;EAW94425;EAW94426;EAW94427;NP_001005207;NP_056109;O94972 Hs.579079 1647425;1647427;1654428;1659069;1662594;1690035;1691714;1691724;1691758;1734414;1734502;1743293;1794014;1847679;2131468;2165957;2177647;2219552;5091722;5092880 A005U07;A007E14;A009B30;D17S1389E;D17S1449E;D17S1670;D17S1680;G20499;G32388;G42202;G42207;G42231;GDB:314385;GDB:314677;PMC310730P3;PPM1E__5569;RH11893;RH91179;WI-15527;WI-18603 KIAA0898;MUL;POB1;TEF3 E3 ubiquitin-protein ligase TRIM37;RING-B-box-coiled-coil protein;mulibrey nanism protein;tripartite motif-containing 37;tripartite motif-containing protein 37 APPROVED protein-coding ENSG00000108395 7523 05463 253250;605073 REVIEWED 1346356 TRIM40 tripartite motif containing 40 6 6 6 p22.1 31702776 31714781 + 30212489 30224488 + 30104510 30116512 + 6480464 16702430;15489334;12477932;20593013;19851445;21474709;21832049 135644 A2BEC5;A2BEC6;A9R9Q5;A9R9Q6;Q6P9F5 AB110939;AB110940;AB202084;ABBA01038041;AF489517;AL669914;AL671859;AMYH01016204;BC060785;BX005441;BX322644;BX927221;CB990357;CH471081;CR753815;CR759838;CR788282;NM_138700 AAH60785;AAM09503;ABZ92099;BAD13705;BAD13706;BAE78604;EAX03265;EAX03266;NP_619645;Q6P9F5 Hs.509439 2220132;2220134 D6S2849;D6S2965 RNF35 OTTHUMP00000029098;OTTHUMP00000161347;RING finger protein 35;probable E3 NEDD8-protein ligase;ring finger RNF35;ring finger protein 40;tripartite motif-containing 40;tripartite motif-containing protein 40 APPROVED protein-coding ENSG00000204614 18736 15557 VALIDATED 1353293 TRIM42 tripartite motif containing 42 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008] 3 3 3 q23 138820504 138843650 + 141879571 141902681 + 140396866 140419992 + 1580863;6480464 18029348;14702039;11331580;12477932;19010793;20379614 287015 Q8IWZ5 ABBA01059055;AC026324;AF521868;AK097416;AK310536;AL833848;AMYH01013539;BC130472;BC130474;BX093220;CH471052;DC397052;NM_152616 AAI30473;AAI30475;AAO14945;BAC05042;CAD38707;EAW79015;NP_689829;Q8IWZ5 Hs.343487 FLJ40097;MGC163346;PPP1R40 OTTHUMP00000217719;protein phosphatase 1, regulatory subunit 40;tripartite motif-containing 42;tripartite motif-containing protein 42 APPROVED protein-coding ENSG00000155890 19014 15559 REVIEWED 1351905 TRIM4 tripartite motif containing 4 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010] 7 7 7 q22-q31.1 94222568 94251765 - 99325972 99355090 - 99488030 99517223 - 1580863;6480464 21110914;17156811;15489334;14702039;12853948;12690205;12477932;11331580;21533175;16314882;18029348;19658100;21139048;21906983;21886157;21680743;22493164;22053931;22505724;22797925 89122 H7C0Q6;Q9C037 AACC02000084;ABBA01013242;AC011904;AF220023;AF220024;AK092892;AK293565;AMYH01017726;BC011763;BC025949;CH236956;CH471091;NM_033017;NM_033091 AAG53477;AAG53478;AAH11763;AAH25949;AAS07396;AAS07397;AAS07398;BAG52624;BAG57036;EAL23864;EAL23865;EAW76625;EAW76626;EAW76627;EAW76628;NP_148977;NP_149082;Q9C037 Hs.50749 1338533;1649287;1656305;1674706;1700560;1775040;1798298;7186897 D7S2498;GDB:1317228;NIB1997;RH103901;SHGC-34844;SHGC-36880;TRIM4_2288 RNF87 OTTHUMP00000210300;OTTHUMP00000210301;OTTHUMP00000210302;OTTHUMP00000210303;RING finger protein 87;tripartite motif protein 4;tripartite motif protein TRIM4 isoform alpha; tripartite motif protein TRIM4; tripartite motif protein 4;tripartite motif-containing 4;tripartite motif-containing protein 4 APPROVED protein-coding ENSG00000146833 16275 15556 REVIEWED 1318911 TRIM41 tripartite motif containing 41 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 5 5 5 q35.3 176278161 176290662 + 180582912 180595414 + 180650263 180662808 + 1580863;6480464 17893151;16565220;16189514;16022281;15498874;15489334;14702039;12477932;11549288;16169070;19549727;20098747;21832049;16344560;19953087;21906983;22493164;22505724 90933 D6REK2;H0Y9T3;H0YAD6;Q8WV44 AB063180;AB100366;AB100367;ABBA01010096;ABBA01010097;AC008443;AF258579;AK027601;AK074052;AK307695;AL137593;AL832960;AMYH01015977;AX775789;AX775791;AX775793;AX775797;AX775799;AX775801;AX775803;BC004956;BC009762;BC018765;BC071887;BC090953;BC111568;BC127195;BM457526;BX396615;CA430637;CH471165;CR457349;DA341383;NG_030346;NM_033549;NM_201627;NR_045218 AAG23782;AAH04956;AAH09762;AAH18765;AAH71887;AAH90953;AAI27196;ABM83446;BAB70617;BAB84878;BAD07472;BAD07473;BAG51358;CAB70832;CAE11594;CAE11595;CAE11596;CAE11598;CAE11599;CAE11600;CAE11601;CAG33630;CAH56279;EAW53707;EAW53708;EAW53709;EAW53710;EAW53711;EAW53712;EAW53713;EAW53714;NP_291027;NP_963921;Q8WV44 Hs.441488;Hs.700303 1645179;1648214;2108599;2116380;2160550 D5S1648E;L28233;RH12310;SGC31965;TRIM41_8121 MGC1127;MGC31991;RINCK E3 ubiquitin-protein ligase TRIM41;OTTHUMP00000161585;OTTHUMP00000161586;OTTHUMP00000223701;OTTHUMP00000223702;RING finger-interacting protein with C kinase;RING-finger protein that interacts with C kinase;tripartite motif-containing 41;tripartite motif-containing protein 41 APPROVED protein-coding ENSG00000146063 19013 15558 610530 REVIEWED 1353905 TRIM43 tripartite motif containing 43 2 2 q11.1 95621493 95629198 + 96257766 96265471 + 1580863;6480464 15489334;12477932;19549727;19690564;21139048;22493164 129868 Q96BQ3 ABBA01009504;AC009237;AMYH01010699;AMYH01010700;BC015353;CH471207;NM_138800 AAH15353;AAY14782;ABZ92545;EAW71320;NP_620155;Q96BQ3 Hs.232026 1647910;1754681 D2S1303;SHGC-133037 TRIM43A OTTHUMP00000160952;tripartite motif-containing 43;tripartite motif-containing protein 43 APPROVED protein-coding ENSG00000144015 19015 15560 PROVISIONAL 6483615 TRIM49B tripartite motif containing 49B 11 p11.12 49053152 49059529 + 19850743;22144910 283116 A6NDI0 ABBA01060670;AC084851;AMYH01003568;JF968463;NM_001206626 AFI99099;NP_001193555 Hs.448644 1712883 RH121076 tripartite motif-containing protein protein-coding ENSG00000182053 42955 VALIDATED 1319359 TRIM45 tripartite motif containing 45 This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009] 1 1 1 p13.1 115882285 115893019 - 117455210 117465934 - 117653677 117664411 - 1580863;6480464 18673550;16710414;15489334;15351693;14702039;12477932;8125298;18029348;19322201;21143188;22634006;17370265 80263 H0YCA7;Q5T2K3;Q9H8W5 ABBA01068499;AK023243;AK222901;AL391476;AMYH01000972;AY669488;BC034943;BU165629;CH471122;EC541819;NG_028008;NM_001145635;NM_025188 AAH34943;AAT76864;ABZ92546;BAB14484;BAD96621;EAW56668;EAW56669;NP_001139107;NP_079464;Q9H8W5 Hs.301526 5022450;5022578;5024039 D10S275;D16S325;D1S1423 FLJ13181;RNF99 OTTHUMP00000013949;OTTHUMP00000013950;OTTHUMP00000013951;ring finger protein 99;tripartite motif-containing 45;tripartite motif-containing protein 45 APPROVED protein-coding ENSG00000134253 19018 15562 609318 REVIEWED 6483629 TRIM49D1 tripartite motif containing 49D1 11 q14.3 89644640 89650878 - 22144910 399939 C9J1S8 ABBA01009780;AP004607;AP005814;BX116917;JF968447;NM_001206627 AFI99090;NP_001193556 Hs.448674;Hs.705301 TRIM49D;TRIM49D1P;TRIM49DP tripartite motif containing 49D, pseudogene;tripartite motif containing 49D1;tripartite motif containing 49D1, pseudogene APPROVED protein-coding ENSG00000223417 43973 PROVISIONAL 3302193 TRIM49D2P tripartite motif containing 49D2, pseudogene 11 11 q14.3 89296860 89305883 + 89657232 89666231 + 22144910 729384 C9J1S8 ABBA01006477;AP004607;CH878633;JF968448;NM_001105522 AFI99091;C9J1S8;EAW50795;NP_001098992 Hs.705301 TRIM48L1;TRIM49D1;TRIM49L;TRIM49L1 tripartite motif containing 49-like 1;tripartite motif protein 49-like;tripartite motif-containing 49-like;tripartite motif-containing 49-like 1;tripartite motif-containing protein 49-like;tripartite motif-containing protein 49-like protein 1;tripartite motif-containing protein 49D1;tripartite motif-containing protein 49D2 pseudogene APPROVED protein-coding 37217 PROVISIONAL 1312571 TRIM44 tripartite motif containing 44 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008] 11 11 11 p13 35831618 35978179 + 35640929 35786351 + 35684353 35830930 + 1580863;6480464 19358823;16554811;16344560;16341674;15489334;14702039;12477932;11331580;11165382;10568747;21145461;17577209;19875103;20379614;21832049;23000965;23460740;18781797;19953087;21890473;21906983;21963094;22862969 54765 Q96DX7 ABBA01060855;ABBA01060856;AC026970;AC090692;AJ249128;AK021823;AK074242;AL138812;AMYH01003490;BC013166;BC024031;BM787577;CH471064;DA131915;DA208113;NM_017583 AAH13166;AAH24031;ABM81987;ABM85167;CAB65108;EAW68133;EAW68134;EAW68135;NP_060053;Q96DX7 Hs.192103 1338944;1672625;1675277;1695404;1715417;1763225;1769617;1782408;2110935;2143252;2218118;7183849 D11S1201;D11S4203;D11S981E;RH120541;RH64981;SHGC-146955;SHGC-154777;SHGC-57397;SHGC-68523;TRIM44_3837;WI-12351 DIPB;HSA249128;MC7;MGC3490 OTTHUMP00000232572;tripartite motif-containing 44;tripartite motif-containing protein 44 APPROVED protein-coding 19016 15561 612298 REVIEWED 1322764 TRIM47 tripartite motif containing 47 17 17 17 q25 70460294 70464705 - 71381840 71386251 - 73870245 73874656 - 1580863;6480464 17081983;16964243;15489334;12477932;11511098;19690564;22863883;21681796;20811636;21832049;21906983;21987572;21963094;19542561;22493164;22797925 91107 K7EJ63;K7EQ30;Q96AD0;Q96LD4 ABBA01028767;AC087289;AMYH01008635;AY026763;BC006153;BC009225;BC017299;BG385464;CH471099;NM_033452 AAH06153;AAH09225;AAH17299;AAK07687;EAW89330;EAW89331;EAW89332;NP_258411;Q96LD4 Hs.293660 2164535 RH36168 GOA;RNF100 RING finger protein 100;gene overexpressed in astrocytoma protein;tripartite motif-containing 47;tripartite motif-containing protein 47 APPROVED protein-coding ENSG00000132481 19020 15564 611041 VALIDATED 1343096 TRIM48 tripartite motif containing 48 11 11 11 q11 52373082 52382021 + 54786234 54795171 + 55029658 55038595 + 1580863;6480464 15489334;12477932;21139048 79097 Q8IWZ4 ABBA01021455;AF521869;AP005597;BC001862;CH471076;NM_024114 AAH01862;AAO14946;ABZ92054;ADZ15476;EAW73670;EAW73671;NP_077019;Q8IWZ4 Hs.195715 MGC4827;RNF101 OTTHUMP00000211295;RING finger protein 101;tripartite motif-containing 48;tripartite motif-containing protein 48 APPROVED protein-coding ENSG00000150244 19021 15565 VALIDATED 2311725 TRIM51BP tripartite motif-containing 51B, pseudogene 11 11 q14.3 89225656 89235882 + 89586008 89596233 + 16554811 399937 A6NDQ2 ABBA01142863;AP004833;AP005435;NG_011760 A6NDQ2 SPRYD5P;SPRYD5P1 APPROVED pseudo 37145 VALIDATED 1314352 TRIM46 tripartite motif containing 46 1 1 1 q22 128217624 128228710 + 153412984 153424069 + 155146263 155157447 + 1580863;6480464 16434393;15489334;14702039;12477932;8125298;16169070;19549727;21900206;16344560;15146197;23105109;22493164;20467438;23263486 80128 B7Z3S2;B7Z975;F5GYK0;Q5VT61;Q9H5P2 ABBA01016713;ABBA01016714;AK026882;AK090504;AK096158;AK128139;AK225075;AK296300;AK297318;AK304542;AK308075;AK308637;AK309699;AK310429;AL607067;AL713999;AMYH01001426;AY251386;BC069416;BC069568;BC126372;BC143828;BX283909;CH471121;CN259033;DA509424;DB262381;DB326530;NM_001256599;NM_001256600;NM_001256601;NM_025058;NR_046327;NR_046328;NR_046329 AAH69416;AAH69568;AAI26373;AAP51206;BAB15580;BAC87293;BAH12308;BAH12545;BAH14211;EAW53120;EAW53121;EAW53122;EAW53123;NP_001243528;NP_001243529;NP_001243530;NP_079334;Q7Z4K8 Hs.287735 1680437;2121347;2128355 RH18512;RH64529;RH92624 FLJ23229;FLJ33185;FLJ98678;GENEY;TRIFIC OTTHUMP00000033782;OTTHUMP00000033783;OTTHUMP00000033784;OTTHUMP00000033785;gene Y protein;tripartite motif-containing 46;tripartite motif-containing protein 46;tripartite, fibronectin type-III and C-terminal SPRY motif protein APPROVED protein-coding ENSG00000163462 19019 15563 600986 VALIDATED 6483757 TRIM51CP tripartite motif-containing 51C, pseudogene 11 p11.12 48967236 48973620 + 100130105 ABBA01060671;AC027369;AMYH01003568;NG_028918 1751165 SHGC-105062 pseudo 43968 INFERRED 6483761 TRIM51DP tripartite motif-containing 51D, pseudogene 11 49897685 49898190 + 100419945 ABBA01060664;AMYH01003578;AP006587;NG_024491 pseudo 43969 INFERRED 6483692 TRIM51FP tripartite motif-containing 51F, pseudogene 11 p11.12 49854518 49860882 - 16554811 283257 ABBA01060664;AC130364;AMYH01003577;NG_028915 A6NDI0 1715151;1724511 RH119826;RH122515 RNF18B;TRIM49B pseudo 43966 INFERRED 6483694 TRIM51EP tripartite motif-containing 51E, pseudogene 11 q14.3 89714614 89724838 - 15146197 399940 AP004607;CN265001;XR_159129 Hs.738794 1751165 SHGC-105062 pseudo ENSG00000237706 43970 MODEL 6483711 TRIM51HP tripartite motif-containing 51H, pseudogene 11 q11 55061179 55065708 - 16554811 440041 A6NCD1 AB231736;AB231737;ABBA01021455;AMYH01003639;AP005597;NR_038174 A6NCD1 Hs.558954 pseudo 43977 VALIDATED 6483756 TRIM51JP tripartite motif-containing 51J, pseudogene 2 q11.1 96240639 96246687 + 643126 ABBA01009504;AC009237;AMYH01010698;NG_028919 pseudo 43978 INFERRED 6483676 TRIM51GP tripartite motif-containing 51G, pseudogene 11 p11.12 48997050 49003247 - 20379614;22144910 120824 ABBA01060670;AC027369;AMYH01003568;CH471064;NG_033009;NM_001206625 EAW67864;NP_001193554 1751165 SHGC-105062 tripartite motif-containing 51G, pseudogene pseudo 43972 INFERRED 1352670 TRIM49 tripartite motif containing 49 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related pseudogenes and gene duplicates have also been identified on chromosome 11. [provided by RefSeq, Aug 2010] 11 11 p11.12-q12 89170471 89181391 - 89530823 89541743 - 6480464 15489334;12477932;11018261;16554811;22144910;22939624;23006423 57093 E9PK69;P0CI25 AB037682;ABBA01193642;AMYH01003876;AP004833;BC075019;BC075020;BC126472;CH471064;JF968461;NM_020358 AAH75019;AAH75020;AAI26473;ABZ92357;ADR82876;AFI99097;BAB03503;EAW67863;NP_065091;P0CI25 Hs.534218 RNF18;TRIM49A;TRIM49L2 OTTHUMP00000236385;ring finger protein 18;testis-specific RING Finger protein;testis-specific ring-finger protein;tripartite motif-containing 49;tripartite motif-containing protein 49 APPROVED protein-coding ENSG00000168930 13431 05840 606124 REVIEWED 1344917 TRIM53AP tripartite motif containing 53A, pseudogene 11 11 q14.3 89366357 89372553 - 89726709 89735676 - 22144910 642569 AMYH01003910;AMYH01003911;AMYH01003912;AMYH01003913;AMYH01003914;AP004607;CA449274;JF968456;JF968457;NR_028346 AFI99094;AFI99095 Hs.647272 5096059 G02221 TRIM53;TRIM53P;TRIM80P APPROVED pseudo ENSG00000225581 19025 VALIDATED 2311723 TRIM53BP tripartite motif containing 53B, pseudogene 11 11 q14.3 89217584 89223786 + 89575161 89584432 + 16554811 642425 ABBA01142863;AP004833;NG_012754 TRIM53B;TRIM53L;TRIM53L1;TRIM80P APPROVED pseudo 37144 VALIDATED 6483752 TRIM53CP tripartite motif containing 53C, pseudogene 11 p11.12 49007305 49013433 - 340970 ABBA01060670;AC027369;AMYH01003568;NG_021782 1711124;1717733 RH121774;SHGC-86214 pseudo 43979 INFERRED 4143019 TRIM49C tripartite motif containing 49C 11 q14.3 89764274 89775193 + 15489334;16554811;12477932;22144910 642612 C9JC75;P0CI26 AMYH01003921;AMYH01003922;AMYH01003923;AP004607;BC126470;JF968462;NM_001195234 AAI26471;AFI99098;NP_001182163;P0CI26 Hs.740080 MGC161748;TRIM49L2 OTTHUMP00000236388;tripartite motif containing 49-like 2;tripartite motif-containing 49-like;tripartite motif-containing 49-like 2;tripartite motif-containing protein 49-like protein 2;tripartite motif-containing protein 49C APPROVED protein-coding ENSG00000204449 38877 VALIDATED 1350301 TRIM51 tripartite motif-containing 51 11 11 11 q11 52990925 52999456 + 55410032 55415862 + 55650773 55659286 + 6480464 16189514;12477932;22144910;21139048 84767 Q9BSJ1 ABBA01021460;AC036111;AMYH01003644;BC005014;CH471076;DV080293;DV080294;JF968454;NM_032681 AAH05014;AFI99093;EAW73688;EAW73689;NP_116070;Q9BSJ1 Hs.326734 1724511 RH122515 MGC10977;SPRYD5;TRIM51A OTTHUMP00000209888;OTTHUMP00000210017;OTTHUMP00000234207;SPRY domain containing 5;SPRY domain-containing protein 5;tripartite motif-containing 51;tripartite motif-containing protein 51 APPROVED protein-coding ENSG00000124900 19023 10282 VALIDATED 7248472 TRIM52-AS1 TRIM52 antisense RNA 1 (head to head) 12477932 100507602 ABBA01010097;AC008443;AMYH01015977;BC016291;BM014221;BQ778070;CK905273;HY116666;HY123799;NR_102759;NR_102760;NR_102761;NR_102762;XR_110081;XR_112806;XR_159002;XR_159452;XR_171544 Hs.126768;Hs.725793 miscrna ENSG00000248275 49006 VALIDATED 1352069 TRIM57 tripartite motif-containing 57 353185 19029 735660 TRIM50 tripartite motif containing 50 7 7 7 q11.23 68204827 68220367 - 72364471 72380021 - 72726535 72742085 - 1580863;6480464 18398435;14702039;12853948;12477932;22792322;22610502;18029348;21143188;16344560 135892 Q2M204;Q86XT4 ABBA01063963;AC073841;AC211485;AC211540;AI208986;AK057366;AK292074;AMYH01017531;AY081948;AY081949;BC112152;BC112154;BC143787;DA045168;DA632418;HY014417;NM_001281450;NM_001281451;NM_178125 AAI12153;AAI12155;AAI43788;AAL91071;AAL91072;BAF84763;NP_001268379;NP_001268380;NP_835226;Q86XT4 Hs.647053 FLJ32804;MGC138357;MGC138359;TRIM50A E3 ubiquitin ligase;E3 ubiquitin-protein ligase TRIM50;OTTHUMP00000210655;OTTHUMP00000210656;tripartite motif protein 50;tripartite motif-containing 50;tripartite motif-containing 50A;tripartite motif-containing protein 50 APPROVED protein-coding ENSG00000146755 19017 15566 612548 VALIDATED 1354245 TRIM54 tripartite motif containing 54 The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] 2 2 2 p23.3 27351621 27377411 + 27359104 27383811 + 27505297 27530307 + 6480464 11243782;15815621;10953002;10737800;11927605;19690564;12477932;16344560;19240029;21078624;17360532;22626734 57159 Q9BYV2 ABBA01045199;ABBA01045200;ABBA01045201;AC013413;AJ291714;AK300699;AMYH01010195;BC141807;BF829678;BU633919;CA423735;CH471053;DA897004;NM_032546;NM_187841 AAI41808;AAY24296;BAG62380;CAC32841;CAC32842;EAX00606;EAX00607;NP_115935;NP_912730;Q9BYV2 Hs.516036 1698956;1798106;2110371;5121538 DNAJC5G_3736;RH103047;RH66632;RNF30_1941 MURF;MURF-3;RNF30;muRF3 OTTHUMP00000122597;OTTHUMP00000122598;muRF3;muscle-specific RING finger protein 3;muscle-specific RING-finger protein 3;ring finger protein 30;tripartite motif-containing 54;tripartite motif-containing protein 54 APPROVED protein-coding ENSG00000138100 16008 05928 606474 REVIEWED 1347364 TRIM52 tripartite motif containing 52 5 5 5 q35.3 176311224 176315969 - 180615979 180620725 - 180683373 180688119 - 1580863;6480464 15489334;14702039;12477932;20596523;19953087;21832049;22493164 84851 L0CQ38;Q96A61 AB209243;ABBA01010097;AC008443;AK026706;AK054802;AMYH01015977;BC007372;CH471165;JX896146;NM_032765 AAH07372;ABZ92073;AGA17664;BAB70809;BAD92480;EAW53703;EAW53704;EAW53705;NP_116154;Q96A61 Hs.458412 2175703;5016478;5020948;5022450;5109281 D10S275;D1S1425;G35510;GDB:434012;WI-11859 MGC16175;RNF102 OTTHUMP00000161584;RING finger protein 102;tripartite motif-containing 52;tripartite motif-containing protein 52 APPROVED protein-coding 19024 10283 PROVISIONAL 1343210 TRIM5 tripartite motif containing 5 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009] 11 11 p15 5641364 5662869 - 5684425 5706339 - 6480464 21490953;12878161;15919943;15967037;19153241;19056509;18799578;18613956;18586294;18524394;18497858;18312418;18248091;18166079;17609277;17588933;17543365;17406861;17392513;17156811;17135314;17087820;17028189;16973579;16956947;16912305;16887163;16809279;16808955;16643975;16624363;16501094;16474153;16474118;16472833;16401428;16289103;16254380;16226405;15767395;15709033;15649369;15489334;15280539;15249690;15249687;15249685;14985764;14702039;12477932;11331580;17083721;16828831;15994791;18799573;19943174;20588169;20619429;21917976;17207965;15146197;16344560;16498413;19388851;19577266;19710594;19741300;19902255;20001730;20049904;20053985;20357094;20211142;20810659;20493962;21035162;22999946;19549727;20609213;20702630;21187419;21107267;21264255;21169362;20929586;21512573;23105109;21784078;21632761;21568899;21575157;21139048;21890473;21906983;20360068;21483490;21734049;22482711;21994740;23536686;21866272;21680743;22078707;18029348;23601783;21963094;23000965;23382691;16775307;22493164;17504171;17626085;17728224;17855543;17897064;18063779;18248090;18279037;18367226;18406133;18417575;18678385;18789977;18976462;18976920;18977142;19020830;19254360;19401538;19656869;19694548;19825046;20012523;20018238;20410272;20638642;20721640;20956011;20962083;21083892;21247355;21455494;21512569;21572451;21575904;21734563;21734566;21741003;21743322;21994560;22291694;22421880;22435067;22505724;22515365;22553496;22647704;22701176;22855686 85363 A6NLP3;C9JWN8;E7EQQ5;F8W6N8;H7C134;Q9C031 AB362928;ABBA01028655;AC015691;AC109341;AF220025;AF220026;AF220027;AF220028;AF220029;AK027593;AK074363;AMYH01003365;AY625000;BC020770;BC021258;BX647152;CH471064;CN334837;DA475412;DQ288685;DQ301444;DQ301445;DQ301446;DQ301447;DQ301448;DQ301449;DQ301450;DQ301451;DQ301452;DQ301453;DQ301454;DQ301455;DQ301456;DQ301457;DQ301458;DQ301459;DQ301460;DQ301461;DQ301462;DQ301463;DQ301464;DQ301465;DQ301466;DQ301467;DQ301468;DQ301469;DQ301470;DQ301471;DQ301472;DQ301473;DQ301474;DQ301475;DQ301476;DQ301477;DQ301478;DQ301479;DQ301480;EU260465;JF928461;JF928462;NG_029122;NM_033034;NM_033092;NM_033093 AAG53479;AAG53480;AAG53481;AAG53482;AAG53483;AAH20770;AAH21258;AAT48101;ABB90543;ABC00997;ABC00998;ABC00999;ABC01000;ABC01001;ABC01002;ABC01003;ABC01004;ABC01005;ABC01006;ABC01007;ABC01008;ABC01009;ABC01010;ABC01011;ABC01012;ABC01013;ABC01014;ABC01015;ABC01016;ABC01017;ABC01018;ABC01019;ABC01020;ABC01021;ABC01022;ABC01023;ABC01024;ABC01025;ABC01026;ABC01027;ABC01028;ABC01029;ABC01030;ABC01031;ABC01032;ABC01033;ABW96352;ADQ31737;AEN14475;AEN14476;BAB55218;BAG16811;EAW68771;EAW68772;EAW68773;EAW68774;EAW68775;EAW68776;EAW68777;NP_149023;NP_149083;NP_149084;Q9C035 Hs.125300 1681652;1707910;1799916;1801580;1802248;1803192;1805110;1810930;1819914;1822802;1824326;1827230;1830346;1830708;1836526;2055910;2055912;2055914;2055916;2055918;2055920;2055922;2055924;2055926;2055928;2055930;2055932;2055934;2055936;2055938;2055940;2055942;2055944;2055946;2055948;2055950;2055952;2055954;2055956;2055958;2055960;2055962;2055964;2055966;2055968;2055970;2055972;2055974;2055976;2055978;2055980;2055982;2055984;2055986;2055988;2055990;2055992;2055994;2055996;2055998;2056000;2056002;2056004;2056006;2056008;2056010;2056012;2056014;2056016;2056018;2056020;2056022;2056024;2056026;2056028;2056030;2056032;2056034;2056036;2056038;2056040;2056042;2056044;2056046;2056048;2056050;2056052;2056054;2056056;2056058;2056060;2056062;2056064;2056066;2056068;2056070;2056072;2056074;2056076;2056078;2056080;2056082;2056084;2056086;2056088;2056090;2056092;2056094;2106078;2106080;2106082;2106084;2106086;2106088;2106090;2106092;2106094;2106096;2106098;2106100;2106102;2106104;2106106;2118901;2132148;5015619 D11S3114;ECD00812;ECD01668;ECD02008;ECD02488;ECD03497;ECD06463;ECD11028;ECD12489;ECD13261;ECD14730;ECD16307;ECD16490;ECD19427;REN99120;REN99121;REN99122;REN99123;REN99124;REN99125;REN99126;REN99127;REN99128;REN99129;REN99130;REN99131;REN99132;REN99133;REN99134;REN99135;REN99136;REN99137;REN99138;REN99139;REN99140;REN99141;REN99142;REN99143;REN99144;REN99145;REN99146;REN99147;REN99148;REN99149;REN99150;REN99151;REN99152;REN99153;REN99154;REN99155;REN99156;REN99157;REN99158;REN99159;REN99160;REN99161;REN99162;REN99163;REN99164;REN99165;REN99166;REN99167;REN99168;REN99169;REN99170;REN99171;REN99172;REN99173;REN99174;REN99175;REN99176;REN99177;REN99178;REN99179;REN99180;REN99181;REN99182;REN99183;REN99184;REN99185;REN99186;REN99187;REN99188;REN99189;REN99190;REN99191;REN99192;REN99193;REN99194;REN99195;REN99196;REN99197;REN99198;REN99199;REN99200;REN99201;REN99202;REN99203;REN99204;REN99205;REN99206;REN99207;REN99208;REN99209;REN99210;REN99211;REN99212;RH67864;RH80365;SHGC-32233;SHGC-82206;stSG611139;stSG611140;stSG611141;stSG611142;stSG611143;stSG611144;stSG611145;stSG611146;stSG611147;stSG611148;stSG611150;stSG611151;stSG611152;stSG611153;stSG611154 RNF88;TRIM5alpha OTTHUMP00000069811;OTTHUMP00000069812;OTTHUMP00000069813;OTTHUMP00000069814;OTTHUMP00000197100;ring finger protein 88;tripartite motif containing 5 transcript variant iota;tripartite motif containing 5 transcript variant kappa;tripartite motif protein TRIM;tripartite motif protein TRIM5;tripartite motif-containing 5;tripartite motif-containing protein 5 APPROVED protein-coding ENSG00000132256 16276 07004 608487 REVIEWED 1603290 TRIM55 tripartite motif containing 55 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 8 8 8 q13.1 63030998 63079433 + 67201832 67250274 + 67039278 67087720 + 6480464 11243782;15802564;15489334;14702039;12477932;12414993;11927605;15967462;15782160;19549727;20379614;22666496;22939629;22493164;22626734 84675 Q9BYV5 ABBA01041870;AC090195;AJ243488;AJ243489;AJ277493;AJ291712;AJ431704;AK091310;AK091728;AMYH01018772;BC007750;BT007212;CH471068;NM_033058;NM_184085;NM_184086;NM_184087 AAH07750;AAP35876;BAG52332;BAG52405;CAC32839;CAC32840;CAC43019;CAC43020;CAC81835;CAD24432;EAW86893;EAW86894;EAW86895;NP_149047;NP_908973;NP_908974;NP_908975;Q9BYV6 Hs.85524 1690806;1699716;1742349 GDB:196438;RH103463;RH93236 MURF-2;RNF29;muRF2 OTTHUMP00000226783;OTTHUMP00000226784;OTTHUMP00000226785;OTTHUMP00000226786;muRF2;muscle specific ring finger 2;muscle-specific RING finger protein 2;ring finger protein 29;tripartite motif-containing 55;tripartite motif-containing protein 55 APPROVED protein-coding ENSG00000147573 14215 05927 606469 REVIEWED 4108684 TRIM60P10Y tripartite motif containing 60 pseudogene 10, Y-linked Y 26805484 26806550 + 100420376 AC025735;NG_004755 TRIM60P10;TRIM60PY10 APPROVED pseudo 38462 VALIDATED 4108683 TRIM60P11Y tripartite motif containing 60 pseudogene 11, Y-linked Y 26837929 26839076 + 100420377 AC025735;NG_004755 TRIM60P11;TRIM60PY11 APPROVED pseudo 38463 VALIDATED 4108681 TRIM60P12Y tripartite motif containing 60 pseudogene 12, Y-linked Y 27320658 27321533 + 100420378 AC006386;NG_004755 TRIM60P12;TRIM60PY12 APPROVED pseudo 38465 VALIDATED 3436166 TRIM60P13 tripartite motif containing 60 pseudogene 13 13 13 13 q31.2 70742738 70744549 - 88699085 88700926 - 89901114 89902925 - 100132195 ABBA01027258;AL354997;AMYH01005279;NG_022984 1704652;2188809 G66504;SHGC-77956 APPROVED pseudo 38485 INFERRED 2947040 TRIM60P14 tripartite motif containing 60 pseudogene 14 4 4 4 q32.3 163168748 163170162 + 165868632 166064423 + 165836718 165838132 + 653794 ABBA01070287;AC106872;AMYH01014673;NG_022090 1779678;2147911;2152895;2176834 D4S2406;D4S2636;SHGC-153656;SHGC-33149 APPROVED pseudo 38486 INFERRED 3160458 TRIM60P15 tripartite motif containing 60 pseudogene 15 8 8 43687960 43689034 + 47703667 47704741 + 100420405 ABBA01018439;AC021451;AMYH01018700;NG_022417 APPROVED pseudo 38487 INFERRED 3160456 TRIM60P16 tripartite motif containing 60 pseudogene 16 7 7 67805839 67806830 - 56699429 56700420 - 100420412 ABBA01061873;AC095038;AMYH01017287;NG_022536 APPROVED pseudo 38488 INFERRED 3160457 TRIM60P17 tripartite motif containing 60 pseudogene 17 7 7 57264788 57265805 + 63545938 63546954 + 100420414 ABBA01027969;AC115220;AMYH01017427;NG_022562 APPROVED pseudo 38489 INFERRED 3160455 TRIM60P18 tripartite motif containing 60 pseudogene 18 7 7 57535055 57536236 + 63815396 63816577 + 100420415 ABBA01027976;AC073270;AMYH01017429;NG_022564 1698928 RH103033 APPROVED pseudo 38490 INFERRED 5133102 TRIM60P19 tripartite motif containing 60 pseudogene 19 13 66843179 66844544 + 100533672 ABBA01050278;AL136145;NG_028899 pseudo 42010 INFERRED 3184139 TRIM60P1Y tripartite motif containing 60 pseudogene 1, Y-linked Y Y 1507207 1508187 + 7713524 7714504 - 100420362 ABBA01060168;AC007275;NG_021907 TRIM60P1;TRIM60PY1 APPROVED pseudo 38403 INFERRED 3184140 TRIM60P2Y tripartite motif containing 60 pseudogene 2, Y-linked Y Y 1446359 1448140 + 7773577 7775358 - 100420363 ABBA01060176;AC010678;NG_021908 TRIM60P2;TRIM60PY2 APPROVED pseudo 38405 INFERRED 3184138 TRIM60P3Y tripartite motif containing 60 pseudogene 3, Y-linked Y Y 939646 940654 + 8281087 8282095 - 100420364 ABBA01060232;ABBA01060233;AC025731;NG_021909 TRIM60P3;TRIM60PY3 APPROVED pseudo 38409 INFERRED 3184137 TRIM60P4Y tripartite motif containing 60 pseudogene 4, Y-linked Y Y 10812713 10813577 - 25007127 25007991 - 100420367 ABBA01159009;AC016911;NG_021923 TRIM60P4;TRIM60PY4 APPROVED pseudo 38425 INFERRED 3184123 TRIM60P5Y tripartite motif containing 60 pseudogene 5, Y-linked Y Y 10812713 10813577 - 26640875 26641739 - 100420368 AC016698;NG_021927 TRIM60P5;TRIM60PY5 APPROVED pseudo 38430 INFERRED 3184141 TRIM60P6Y tripartite motif containing 60 pseudogene 6, Y-linked Y Y 11009753 11010900 + 27123326 27124473 - 100420369 AC006338;NG_021928 TRIM60P6;TRIM60PY6 APPROVED pseudo 38432 INFERRED 3184099 TRIM60P7Y tripartite motif containing 60 pseudogene 7, Y-linked Y Y 10977310 10978376 + 27155850 27156916 - 100420370 AC006338;NG_021929 TRIM60P7;TRIM60PY7 APPROVED pseudo 38433 INFERRED 4108682 TRIM60P8Y tripartite motif containing 60 pseudogene 8, Y-linked Y 25171741 25172807 + 100420373 AC006366;NG_004755 TRIM60P8;TRIM60PY8 APPROVED pseudo 38458 VALIDATED 4108685 TRIM60P9Y tripartite motif containing 60 pseudogene 9, Y-linked Y 25204183 25205330 + 100420374 AC010088;NG_004755 TRIM60P9;TRIM60PY9 APPROVED pseudo 38459 VALIDATED 1349557 TRIM58 tripartite motif containing 58 1 1 1 q44 221312583 221335224 + 246087124 246110063 + 248020501 248043440 + 6480464 15489334;14702039;12477932;23222517;22139419 25893 Q8NG06 ABBA01031793;ABBA01031794;AC099571;AF327057;AK096188;AMYH01001917;AMYH01001918;BC074748;BX537432;BX644877;DN998591;NM_015431 AAH74748;AAM63958;CAD97674;NP_056246;Q8NG06 Hs.269151 1857428;2106445;2165095;2178980;5015619;5015959;5024761;5037552 BIA2_4445;D10S2448;D11S3114;D8S2279;RH17518;RH36905;RH78729;SHGC-34859 BIA2;DKFZp434C091;DKFZp686N09198 OTTHUMP00000038054;tripartite motif-containing 58;tripartite motif-containing protein 58 APPROVED protein-coding 24150 09825 VALIDATED 1349912 TRIM59 tripartite motif containing 59 3 3 3 q25.33 158574658 158589643 - 161635985 161650320 - 160153291 160167626 - 1580863;6480464 15941852;15489334;12477932;12095697;21139048;21906983;22588174 286827 C9IY67;C9IZE0;C9J614;C9J9F0;C9JE08;C9JNB9;F5GZP3;Q8IWR1 ABBA01058796;AC024221;AI215011;AK291284;AMYH01013615;AY159379;BC109259;BC109260;BX537987;CH471052;NM_173084 AAI09260;AAI09261;AAN86853;BAF83973;CAD97947;EAW78635;EAW78636;EAW78637;EAW78638;NP_775107;Q8IWR1 Hs.212957 1669397;1775108;2160897;2165861;5014051;5016478;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;GDB:434012;L18426;SHGC-77500;STS-N90779;STS-W93650;WI-18249 MGC129860;MGC129861;MGC26631;MRF1;RNF104;TRIM57;TSBF1 OTTHUMP00000213882;OTTHUMP00000213883;OTTHUMP00000213884;OTTHUMP00000213886;OTTHUMP00000213887;RING finger 1-like;RING finger protein 104;tripartite motif-containing 57;tripartite motif-containing 59;tripartite motif-containing protein 59;tumor suppressor TSBF-1;tumor suppressor TSBF1 APPROVED protein-coding ENSG00000213186 30834 15568 VALIDATED 1342742 TRIM56 tripartite motif containing 56 7 7 7 q22.1 95736929 95742103 + 100515506 100520629 + 100728786 100733909 + 1580863;6480464 17081983;15489334;14702039;12853948;12477932;19690564;21074459;21289118;21555518;22939629;21139048;22505724;22797925;22948160 81844 C9JI91;Q9BRZ2 ABBA01011351;AC105446;AK075255;AL512757;AMYH01017750;BC005847;BC011882;BC048194;CH471197;NM_030961 AAH05847;AAH11882;AAH48194;ABZ92066;BAC11500;CAC21676;EAW50193;NP_112223;Q9BRZ2 Hs.521092 1789518;2218626 D7S3179;TRIM56__3686 DKFZp667O116;FLJ35608;RNF109 E3 ubiquitin-protein ligase TRIM56;OTTHUMP00000211343;RING finger protein 109;tripartite motif-containing 56;tripartite motif-containing protein 56 APPROVED protein-coding ENSG00000169871 19028 10284 PROVISIONAL 1349864 TRIM64 tripartite motif containing 64 11 11 11 q14.3 86951536 86956174 + 89341320 89346888 + 89701672 89707240 + 16554811;22144910 120146 A6NGJ6 AP004607;NM_001136486 A6NGJ6;NP_001129958 Hs.454490 5113091;5113389 RH75742;RH93993 C11orf28;TRIM64A tripartite motif-containing 64;tripartite motif-containing protein 64 APPROVED protein-coding 14663 INFERRED 2311722 TRIM64B tripartite motif containing 64B 11 11 q14.3 89243254 89248833 - 89603606 89609185 - 22144910;16554811 642446 A6NI03 ABBA01225523;AMYH01003894;AP005435;JF968449;NM_001164397 A6NI03;AFI99092;NP_001157869 Hs.730588 5113091;5113389 RH75742;RH93993 OTTHUMP00000236387;putative tripartite motif-containing protein 64B;tripartite motif-containing 64B;tripartite motif-containing protein 64B-like APPROVED protein-coding 37147 PROVISIONAL 2311727 TRIM64C tripartite motif containing 64C 11 11 11 p11.12 49226614 49232013 - 49031842 49037240 - 49075266 49080664 - 6480464 16554811;22797925 646754 A6NLI5;E9PII4 ABBA01060669;AC084851;AMYH01003568;NM_001206631 A6NLI5;NP_001193560 Hs.740240 OTTHUMP00000234157;Putative tripartite motif-containing protein 64C;tripartite motif containing 64C;tripartite motif-containing 64C;tripartite motif-containing protein 64C-like APPROVED protein-coding ENSG00000214891 37148 PROVISIONAL 6483758 TRIM64DP tripartite motif containing 64D, pseudogene 11 q14.3 89510149 89515728 + 727828 ABBA01113216;AP003122;NG_028916 pseudo 43974 INFERRED 6483754 TRIM64EP tripartite motif containing 64E, pseudogene 11 q14.3 89790587 89796165 - 440061 AMYH01003873;AMYH01003874;AP004607;NG_028917 pseudo 43975 INFERRED 6483753 TRIM64FP tripartite motif containing 64F, pseudogene 2 q11.1 96180575 96185860 + 390233 ABBA01009504;AC009237;AMYH01010698;NG_028781 pseudo 43976 INFERRED 1316640 TRIM6 tripartite motif containing 6 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010] 11 11 11 p15.4 5735961 5753014 + 5573923 5590764 + 5617331 5634188 + 1580863;6480464 17156811;16775307;16498413;15489334;14702039;12477932;11331580;11013086;16828831;22328504;16344560;18159944;21680743;23382691 117854 C9JNQ0;E9PFM0;Q9C030 ABBA01028652;ABBA01028653;AC015691;AF220030;AK023210;AK027664;AK290172;AK293295;AK298301;AK316178;AK316289;AMYH01003364;AMYH01003365;BC047564;BC065575;BG776117;CH471064;CR749260;DA401634;DB233046;DC354457;NM_001003818;NM_001198644;NM_001198645;NM_058166 AAG53484;AAH47564;AAH65575;BAB55276;BAF82861;BAG56816;BAG60556;BAH14549;BAH14660;CAH18116;EAW68782;EAW68783;EAW68785;NP_001003818;NP_001185573;NP_001185574;NP_477514;Q9C030 Hs.729048 1804070;1804284;1805860;1810630;1811796;1813018;1813234;1816042;1823332;1823754;1823810;1825518;1827226;1827228;1827896;1828782;1828986;1830000;1837146;1843358;2055352;2055354;2055356;2055358;2055360;2055362;2055364;2055366;2055368;2055370;2055372;2055374;2055376;2055378;2055380;2055382;2055384;2055386;2055388;2055390;2055392;2055394;2055396;2055398;2055400;2055402;2055404;2055406;2055408;2055410;2055412;2055414;2055416;2055418;2055420;2055422;2055424;2055426;2055428;2055430;2055432;2055434;2055436;2055438;2055440;2055442;2055444;2055446;2055448;2055450;2055452;2055454;2055456;2055458;2055460;2055462;2055464;2055466;2055468;2055470;2055472;2055474;2055476;2055478;2055480;2055482;2055484;2055486;2055488;2055490;2055492;2055494;2055496;2055498;2055500;2055502;2105982;2105984;2105986;2105988;2105990;2105992;2105994;2105996;2105998;2106000;2106002;2106004;2108601;2142906;5093998 A010A18;ECD02952;ECD03066;ECD03883;ECD06309;ECD06902;ECD07528;ECD07637;ECD09061;ECD12755;ECD12969;ECD12997;ECD13867;ECD14728;ECD14729;ECD15071;ECD15518;ECD15620;ECD16133;ECD19739;ECD22887;G33046;REN98840;REN98841;REN98842;REN98843;REN98844;REN98845;REN98846;REN98847;REN98848;REN98849;REN98850;REN98851;REN98852;REN98853;REN98854;REN98855;REN98856;REN98857;REN98858;REN98859;REN98860;REN98861;REN98862;REN98863;REN98864;REN98865;REN98866;REN98867;REN98868;REN98869;REN98870;REN98871;REN98872;REN98873;REN98874;REN98875;REN98876;REN98877;REN98878;REN98879;REN98880;REN98881;REN98882;REN98883;REN98884;REN98885;REN98886;REN98887;REN98888;REN98889;REN98890;REN98891;REN98892;REN98893;REN98894;REN98895;REN98896;REN98897;REN98898;REN98899;REN98900;REN98901;REN98902;REN98903;REN98904;REN98905;REN98906;REN98907;REN98908;REN98909;REN98910;REN98911;REN98912;REN98913;REN98914;REN98915;TRIM6_8130;stSG611089;stSG611091;stSG611092;stSG611093;stSG611094;stSG611095;stSG611096;stSG611097;stSG611098;stSG611099;stSG611100;stSG611101 RNF89 OTTHUMP00000069818;OTTHUMP00000069819;OTTHUMP00000069820;OTTHUMP00000197092;OTTHUMP00000220648;OTTHUMP00000220649;OTTHUMP00000220650;RING finger protein 89;tripartite motif-containing 6;tripartite motif-containing protein 6 APPROVED protein-coding ENSG00000121236 16277 12123 607564 REVIEWED 1604884 TRIM6-TRIM34 TRIM6-TRIM34 readthrough The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene represents a readthrough transcript from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. [provided by RefSeq, Nov 2009] 11 11 11 p15 5736703 5784582 + 5574462 5622204 + 5617865 5665628 + 16775307;12477932;11013086;20967262;16344560;21906983;21963094;22505724;23382691 445372 B2RNG4 AB039903;ABBA01028653;ABBA01028654;ABBA01028655;AC015691;AMYH01003365;AW516211;BC136871;BC140722;BC144424;BG721109;CX760618;NM_001003819 AAI36872;AAI40723;BAB17050;NP_001003819 Hs.729048 1799750;1804070;1804284;1804342;1804398;1805860;1807762;1808382;1810630;1811796;1813018;1813234;1813734;1814920;1816042;1819910;1819912;1821058;1821648;1823754;1823756;1823810;1824804;1825442;1825518;1825604;1826078;1826968;1827226;1827228;1827896;1828320;1828530;1828782;1828784;1828986;1829056;1829628;1830000;1831744;1832026;1832214;1835700;1835856;1837146;1837702;1840068;1840448;1840720;1843358;1845656;2054546;2054548;2054550;2054552;2054554;2054556;2054558;2054560;2054562;2055358;2055360;2055362;2055364;2055366;2055368;2055370;2055372;2055374;2055376;2055378;2055380;2055382;2055384;2055386;2055388;2055390;2055392;2055394;2055396;2055398;2055400;2055402;2055404;2055406;2055408;2055410;2055412;2055414;2055416;2055418;2055420;2055422;2055424;2055426;2055428;2055430;2055432;2055434;2055436;2055438;2055440;2055442;2055444;2055446;2055448;2055450;2055452;2055454;2055456;2055458;2055460;2055462;2055464;2055466;2055468;2055470;2055472;2055474;2055476;2055478;2055480;2055482;2055484;2055486;2055488;2055490;2055492;2055494;2055496;2055498;2055500;2055502;2055504;2055506;2055508;2055510;2055512;2055514;2055516;2055518;2055520;2055522;2055524;2055526;2055528;2055530;2055532;2055534;2055536;2055538;2055540;2055542;2055544;2055546;2055548;2055550;2055552;2055554;2055556;2055558;2055560;2055562;2055564;2055566;2055568;2055570;2055572;2055574;2055576;2055578;2055580;2055582;2055584;2055586;2055588;2055590;2055592;2055594;2055596;2055598;2055600;2055602;2055604;2055606;2055608;2055610;2055612;2055614;2055616;2055618;2055620;2055622;2055624;2055626;2055628;2055630;2055632;2055634;2055636;2055638;2055640;2055642;2055644;2055646;2055648;2055650;2055652;2055654;2055656;2055658;2055660;2055662;2055664;2055666;2055668;2055670;2055672;2055674;2055676;2055678;2055680;2055682;2055684;2055686;2055688;2055690;2055692;2055694;2055696;2055698;2055700;2055702;2055704;2055706;2055708;2055710;2055712;2055714;2055716;2055718;2055720;2055722;2055724;2055726;2055728;2055730;2055732;2055734;2055736;2055738;2055740;2055742;2055744;2055746;2055748;2055750;2055752;2055754;2055756;2055758;2055760;2055762;2105838;2105840;2105982;2105984;2105986;2105988;2105990;2105992;2105994;2105996;2105998;2106000;2106002;2106006;2106008;2106010;2106012;2106014;2106016;2106018;2106020;2106022;2106024;2106026;2106028;2106030;2106032;2106034;2106036;2106038;2106040;2106042;2106044;2106046;2106048;2106050;2106052;2106054;2106056;2106058;2108597;2108601;2142906;5093998 A010A18;ECD00729;ECD02952;ECD03066;ECD03095;ECD03123;ECD03883;ECD04854;ECD05172;ECD06309;ECD06902;ECD07528;ECD07637;ECD07890;ECD08491;ECD09061;ECD11026;ECD11027;ECD11606;ECD11910;ECD12969;ECD12970;ECD12997;ECD13501;ECD13828;ECD13867;ECD13910;ECD14148;ECD14599;ECD14728;ECD14729;ECD15071;ECD15285;ECD15392;ECD15518;ECD15519;ECD15620;ECD15655;ECD15946;ECD16133;ECD17009;ECD17151;ECD17245;ECD19007;ECD19089;ECD19739;ECD20019;ECD21218;ECD21410;ECD21551;ECD22887;ECD24046;G33046;REN98435;REN98436;REN98437;REN98438;REN98439;REN98440;REN98441;REN98442;REN98443;REN98843;REN98844;REN98845;REN98846;REN98847;REN98848;REN98849;REN98850;REN98851;REN98852;REN98853;REN98854;REN98855;REN98856;REN98857;REN98858;REN98859;REN98860;REN98861;REN98862;REN98863;REN98864;REN98865;REN98866;REN98867;REN98868;REN98869;REN98870;REN98871;REN98872;REN98873;REN98874;REN98875;REN98876;REN98877;REN98878;REN98879;REN98880;REN98881;REN98882;REN98883;REN98884;REN98885;REN98886;REN98887;REN98888;REN98889;REN98890;REN98891;REN98892;REN98893;REN98894;REN98895;REN98896;REN98897;REN98898;REN98899;REN98900;REN98901;REN98902;REN98903;REN98904;REN98905;REN98906;REN98907;REN98908;REN98909;REN98910;REN98911;REN98912;REN98913;REN98914;REN98915;REN98916;REN98917;REN98918;REN98919;REN98920;REN98921;REN98922;REN98923;REN98924;REN98925;REN98926;REN98927;REN98928;REN98929;REN98930;REN98931;REN98932;REN98933;REN98934;REN98935;REN98936;REN98937;REN98938;REN98939;REN98940;REN98941;REN98942;REN98943;REN98944;REN98945;REN98946;REN98947;REN98948;REN98949;REN98950;REN98951;REN98952;REN98953;REN98954;REN98955;REN98956;REN98957;REN98958;REN98959;REN98960;REN98961;REN98962;REN98963;REN98964;REN98965;REN98966;REN98967;REN98968;REN98969;REN98970;REN98971;REN98972;REN98973;REN98974;REN98975;REN98976;REN98977;REN98978;REN98979;REN98980;REN98981;REN98982;REN98983;REN98984;REN98985;REN98986;REN98987;REN98988;REN98989;REN98990;REN98991;REN98992;REN98993;REN98994;REN98995;REN98996;REN98997;REN98998;REN98999;REN99000;REN99001;REN99002;REN99003;REN99004;REN99005;REN99006;REN99007;REN99008;REN99009;REN99010;REN99011;REN99012;REN99013;REN99014;REN99015;REN99016;REN99017;REN99018;REN99019;REN99020;REN99021;REN99022;REN99023;REN99024;REN99025;REN99026;REN99027;REN99028;REN99029;REN99030;REN99031;REN99032;REN99033;REN99034;REN99035;REN99036;REN99037;REN99038;REN99039;REN99040;REN99041;REN99042;REN99043;REN99044;REN99045;TRIM34_8052;TRIM6_8130;stSG611014;stSG611015;stSG611089;stSG611091;stSG611092;stSG611093;stSG611094;stSG611095;stSG611096;stSG611097;stSG611098;stSG611099;stSG611100;stSG611103;stSG611104;stSG611105;stSG611106;stSG611107;stSG611108;stSG611109;stSG611110;stSG611111;stSG611112;stSG611113;stSG611114;stSG611115;stSG611116;stSG611117;stSG611118;stSG611119;stSG611120;stSG611121;stSG611122;stSG611123;stSG611124;stSG611125;stSG611126;stSG611127;stSG611128;stSG611129 IFP1;RNF21;TRIM34 OTTHUMP00000069817;interferon-responsive finger protein 1;interferon-responsive finger protein 1 long form;tripartite motif-containing 6 and tripartite motif-containing 34 APPROVED protein-coding ENSG00000258588 33440 18660 REVIEWED 1352641 TRIM67 tripartite motif containing 67 1 1 1 q42.2 204563541 204622189 + 229365297 229423937 + 231298674 231357314 + 1580863;6480464 16710414;16434393;14702039;23251661 440730 F8W8C1;J3QSX0;Q6ZTA4 ABBA01033033;ABBA01033034;AK055338;AK126782;AL109810;AL137801;AMYH01001819;AY253917;CH471098;CR627464;NM_001004342 AAI56317;AAI57056;AAP69949;BAC86689;EAW69946;NP_001004342;Q6ZTA4 Hs.655089 1719247;1730397;1855586;2179709 D14S96E;HSC2BE102;RH123344;RH27924 FLJ44831;TNL OTTHUMP00000036069;OTTHUMP00000036070;OTTHUMP00000036134;TRIM9-like protein TNL;tripartite motif-containing 67;tripartite motif-containing protein 67 APPROVED protein-coding ENSG00000119283 31859 15570 610584 VALIDATED 1344439 TRIM66 tripartite motif containing 66 11 11 11 p15.4 8751219 8798014 - 8593069 8650397 - 8633584 8680383 - 1580863;6480464 15322135;14702039;11528127;9205841;18029348;21102462;16751776 9866 B5MCJ9;H0YF52;O15016 AB002296;ABBA01061210;ABBA01061211;AC091053;AC104360;AJ400879;AK000908;AK307240;AK308310;AMYH01003375;AMYH01003376;AMYH01003377;BC031354;NM_014818 BAA20758;CAC35389;NP_055633;O15016 Hs.130836 1660894;1729123;1740051;2181840;2181908;2182747;2182749;5014740;5015961;5016596;5022651 A005K17;AU049776;D11S2921;D11S4070;D11S4639;D15S1477;D17S610;G20283;GDB:631802;RH78320;WI-18522 C11orf29;FLJ10046;TIF1D;TIF1DELTA OTTHUMP00000197472;transcriptional intermediary factor 1 delta;tripartite motif-containing 66;tripartite motif-containing protein 66 APPROVED protein-coding ENSG00000166436 29005 612000 VALIDATED 1350779 TRIM60 tripartite motif containing 60 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] 4 4 4 q32.3 163284633 163294264 + 166172601 166182346 + 165953151 165962896 + 6480464 19240061;15489334;14702039;12477932;8744354 166655 D6RAS2;Q495X7 ABBA01070290;AC106872;AK093201;AMYH01014673;BC100983;BC100984;BC100985;BC100986;CH471056;NM_001258025;NM_152620 AAI00984;AAI00985;AAI00986;AAI00987;BAC04093;EAX04827;NP_001244954;NP_689833;Q495X7 Hs.368004 2217914 RNF129_3727 FLJ35882;MGC119325;RNF129;RNF33 OTTHUMP00000219952;OTTHUMP00000219953;OTTHUMP00000219954;ring finger protein 129;ring finger protein 33;tripartite motif-containing 60;tripartite motif-containing protein 60 APPROVED protein-coding ENSG00000176979 21162 11502 REVIEWED 1352380 TRIM65 tripartite motif containing 65 17 17 17 q25.1 70475091 70483104 - 71396636 71404649 - 73885041 73893084 - 737633;6480464 12477932 15489334;19690564;21681796;21900206;21890473;21906983;19322201;22493164;22505724 201292 H0YG27;H0YGS7;K7EJ59;K7EM44;Q6PJ69 ABBA01028767;AC087289;AI242308;AMYH01008635;BC006138;BC013181;BC021259;BC073831;BC098412;BG701649;BG753016;BQ070146;CA417316;CH471099;DR002345;NM_001256124;NM_173547 AAH06138;AAH13181;AAH21259;AAH73831;AAH98412;EAW89333;EAW89334;EAW89335;EAW89336;NP_001243053;NP_775818;Q6PJ69 Hs.189823 1652955;1689799;1736634;1783574;1787860;2121563;5015619;5015961;5037552;5107145 D11S3114;D15S1477;D17S1475E;D8S2279;G65616;RH78964;RH79813;SHGC-132666;SHGC-155088;SHGC-37061 4732463G12Rik OTTHUMP00000163003;OTTHUMP00000236784;OTTHUMP00000236785;tripartite motif-containing 65;tripartite motif-containing protein 65 APPROVED protein-coding ENSG00000141569 27316 15569 VALIDATED 1346151 TRIM62 tripartite motif containing 62 1 1 1 p35.1 31881193 31917797 - 33383591 33419854 - 33611003 33647671 - 737633;1580863;6480464 12477932 19536326;16710414;16344560;15489334;15231748;14702039;8889548;19536324;20379614;21906983 55223 B4DTE4;Q9BVG3 ABBA01023384;ABBA01023385;ABBA01023386;AK001621;AK122896;AK300177;AL662907;AMYH01000477;AMYH01000478;AX775831;BC001222;BC007999;BC011689;BC012152;BM722392;CH471059;CX872720;DA338982;NM_018207 AAH01222;AAH07999;AAH11689;AAH12152;BAA91792;BAG53787;BAG61956;CAE11615;EAX07465;EAX07466;EAX07467;NP_060677;Q9BVG3 Hs.656006 1644595;1848389 D1S3575;SHGC-74539 DEAR1;FLJ10759;FLJ16558 OTTHUMP00000004289;OTTHUMP00000004290;OTTHUMP00000004291;ductal epithelium-associated RING Chromosome 1;tripartite motif-containing 62;tripartite motif-containing protein 62 APPROVED protein-coding ENSG00000116525 25574 07697 VALIDATED 1606726 TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase 3 3 3 p22.3 32796792 32870969 + 32834514 32908775 + 32859510 32933771 + 6480464 22735451;17890240;16247770;16245339;15722555;21946350;23097274 131405 Q2Q1W2 ABBA01024918;ABBA01024919;ABBA01024920;ABBA01024921;ABBA01024922;ABBA01024923;AC139452;AMYH01013064;DQ232881;NM_001039111 AAI56153;AAI57053;ABB18374;NP_001034200;Q2Q1W2 Hs.567678 1728579;2138686 D3S4127;G63581 LIN-41;LIN41 E3 ubiquitin-protein ligase TRIM71;OTTHUMP00000208607;abnormal cell LINeage LIN-41;homolog of C. elegans Lin-41;protein lin-41 homolog;tripartite motif-containing 71;tripartite motif-containing protein 71 APPROVED protein-coding 32669 PROVISIONAL 1354030 TRIM61 tripartite motif containing 61 4 4 4 q32.3 163207628 163230821 - 166095048 166118268 - 165875598 165898818 - 6480464 15994318;15489334;15146197;12477932;23251661 391712 Q5EBN2 ABBA01070287;AC106872;AK296100;AMYH01014673;BC089393;CN311322;NM_001012414 AAH89393;BAG58853;NP_001012414;Q5EBN2 Hs.654633 5019172 RH103332 FLJ60274;MGC102996;RNF35 OTTHUMP00000219955;putative tripartite motif-containing protein 61;ring finger protein 35;tripartite motif-containing 61 APPROVED protein-coding ENSG00000183439 24339 18225 VALIDATED 1345707 TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012] 1 1 p34-p33 26250385 26266708 - 26377795 26394125 - 633893;6480464 11679633 11243782;11927605;19533653;18795805;18612045;18468620;17977773;17971512;17901116;17478621;16710414;15967462;15601779;15489334;14702039;12477932;12414993;12107412;11283016;18222470;17215480;21764995;22350919;19690564;19850579;19859778;21304964;21832049;22821932;21686210;21448668;21396940;19240029;22127230;16344560;15802564;20149877;22815045;22626734 84676 Q6NR77;Q969Q1 ABBA01034895;AF353673;AF361946;AI351421;AJ276484;AK056942;AK297820;AL391650;AMYH01000394;BC080529;BT007373;CH471059;DA900348;NG_033268;NM_032588 AAH80529;AAK39519;AAK52497;AAP36037;BAB71318;BAG60157;CAC81706;EAX07848;NP_115977;Q969Q1 Hs.279709 2160266;2218594 RNF28_2333;SHGC-74422 FLJ32380;IRF;MURF1;MURF2;RNF28;SMRZ E3 ubiquitin-protein ligase TRIM63;OTTHUMP00000008701;iris ring finger protein;muscle specific ring finger protein 2;muscle-specific RING finger protein 1;ring finger protein 28;striated muscle RING zinc finger protein;tripartite motif-containing 63;tripartite motif-containing protein 63 APPROVED protein-coding ENSG00000158022 16007 05843 606131 REVIEWED 1602800 TRIM75 tripartite motif containing 75 4 4 4 q32.3 163311477 163313071 + 166199750 166201156 + 165980120 165981714 + 8744354 391714 A6NK02 ABBA01070290;AC108465;AMYH01014673;NG_016722 A6NK02 APPROVED pseudo 32686 INFERRED 2293601 TRIM77 tripartite motif containing 77 11 11 11 q14.3 85180362 85187935 - 89083115 89090688 + 89443467 89451040 + 16554811;21139048;22144910 390231 I1YAP6;I1YAP7 ABBA01011516;AMYH01003871;AP003122;JF968445;JF968446;NM_001146162;NM_001271942 AFI99088;AFI99089;I1YAP6;NP_001139634;NP_001258871 Hs.723112 TRIM77P TRIM77-isoform;putative tripartite motif-containing protein 64D;putative tripartite motif-containing protein 77;tripartite motif containing 77, pseudogene;tripartite motif-containing 77;tripartite motif-containing protein 77 APPROVED protein-coding ENSG00000214414 34228 VALIDATED 1345911 TRIM78P tripartite motif containing 78, pseudogene 11 11 11 p15 5783366 5806681 + 5620988 5644198 + 5664412 5687622 + 11331580 117852 AC015691;AC109341;AF230412;AL360159;AL360183;NR_002777 Hs.742023 1681652;1707910;1803192;1804020;1804608;1805110;1808382;1815234;1819324;1821060;1821650;1825604;1828784;1831744;1835900;1836192;1836472;1839736;1845496;1845656;2055734;2055736;2055738;2055740;2055742;2055744;2055746;2055748;2055750;2055752;2055754;2055756;2055758;2055760;2055762;2055764;2055766;2055768;2055770;2055772;2055774;2055776;2055778;2055780;2055782;2055784;2055786;2055788;2055790;2055792;2055794;2055796;2055798;2055800;2055802;2055804;2055806;2055808;2055810;2055812;2055814;2055816;2055818;2055820;2055822;2055824;2055826;2055828;2055830;2055832;2055834;2055836;2055838;2055840;2055842;2055844;2055846;2055848;2055850;2055852;2055854;2055856;2055858;2055860;2055862;2055864;2055866;2055868;2055870;2055872;2055874;2055876;2055878;2055880;2055882;2055884;2055886;2055888;2055890;2055892;2055894;2055896;2055898;2055900;2055902;2055904;2055906;2055908;2055910;2055912;2055914;2055916;2055918;2055920;2055922;2055924;2055926;2055928;2055930;2055932;2055934;2055936;2055938;2055940;2055942;2055944;2106054;2106058;2106060;2106062;2106064;2106066;2106068;2106070;2106072;2106074;2106076;2106078;2108597;2118901;2132148;2165253 ECD02488;ECD02926;ECD03236;ECD03497;ECD05172;ECD08652;ECD10729;ECD11607;ECD11911;ECD13910;ECD15519;ECD17009;ECD19111;ECD19257;ECD19399;ECD21051;ECD23966;ECD24046;REN99031;REN99032;REN99033;REN99034;REN99035;REN99036;REN99037;REN99038;REN99039;REN99040;REN99041;REN99042;REN99043;REN99044;REN99045;REN99046;REN99047;REN99048;REN99049;REN99050;REN99051;REN99052;REN99053;REN99054;REN99055;REN99056;REN99057;REN99058;REN99059;REN99060;REN99061;REN99062;REN99063;REN99064;REN99065;REN99066;REN99067;REN99068;REN99069;REN99070;REN99071;REN99072;REN99073;REN99074;REN99075;REN99076;REN99077;REN99078;REN99079;REN99080;REN99081;REN99082;REN99083;REN99084;REN99085;REN99086;REN99087;REN99088;REN99089;REN99090;REN99091;REN99092;REN99093;REN99094;REN99096;REN99097;REN99098;REN99099;REN99100;REN99101;REN99102;REN99103;REN99104;REN99105;REN99106;REN99107;REN99108;REN99109;REN99110;REN99111;REN99112;REN99113;REN99114;REN99115;REN99116;REN99117;REN99118;REN99119;REN99120;REN99121;REN99122;REN99123;REN99124;REN99125;REN99126;REN99127;REN99128;REN99129;REN99130;REN99131;REN99132;REN99133;REN99134;REN99135;REN99136;REN99137;RH67864;RH71419;RH80365;SHGC-32233;SHGC-82206;TRIM34_8052;stSG611127;stSG611129;stSG611130;stSG611131;stSG611132;stSG611133;stSG611134;stSG611135;stSG611136;stSG611137;stSG611138;stSG611139 TRIMP1 APPROVED pseudo 17232 1312888 TRIM69 tripartite motif containing 69 This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] 15 15 15 q21.1 21918324 21949771 + 42815852 42847317 + 45028560 45060025 + 6480464 16189514;15489334;15231748;12837286;12477932;11578878;11181995;20677014;20379614;21832049;20360068;21911421;23131556 140691 H0YKB8;H0YL66;Q86WT6 ABBA01039193;ABBA01039194;ABBA01039195;AC122108;AF302088;AF302089;AK226115;AK292252;AL360161;AMYH01006612;AY305385;BC024199;BC031266;BC033314;BC047945;BI827618;BI829233;BM559467;CH471082;DQ232883;NM_080745;NM_182985 AAH24199;AAH33314;AAH47945;AAL55810;AAL55811;AAQ75551;ABB18376;ABZ92102;ACE86772;ACE87458;BAF84941;EAW77279;EAW77280;EAW77281;EAW77282;NP_542783;NP_892030;Q86WT6 Hs.489254;Hs.744193 1689959;2160175 RH15707;RH94033 HSD34;RNF36;Trif E3 ubiquitin-protein ligase TRIM69;OTTHUMP00000161911;RFP-like domain-containing protein trimless;ring finger protein 36;trimless;tripartite motif protein 69;tripartite motif-containing 69;tripartite motif-containing protein 69 APPROVED protein-coding ENSG00000185880 17857 11518 REVIEWED 1350983 TRIM74 tripartite motif containing 74 7 7 q11.23 72067952 72077933 - 72430016 72439997 - 18398435;12853948;12477932;19549727;23105109;22493164 378108 Q86UV6 AC005488;AC211476;AF498999;AMYH01017531;BC033871;NM_198853 AAH33871;AAP30736;ABM81740;ABM84896;NP_942150;Q86UV6 Hs.645328 2118154;5114536 GDB:4585495;STS-N62712 MGC45440;TRIM50C OTTHUMP00000160289;OTTHUMP00000160290;tripartite motif-containing 50C;tripartite motif-containing 74;tripartite motif-containing protein 50C;tripartite motif-containing protein 74 APPROVED protein-coding ENSG00000155428 17453 15567 612550 PROVISIONAL 1344713 TRIM68 tripartite motif containing 68 This gene encodes a protein which contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is expressed in many cancer cell lines. Its expression in normal tissues, however, was found to be restricted to prostate. This gene was also found to be differentially expressed in androgen-dependent versus androgen-independent prostate cancer cells. [provided by RefSeq, Oct 2011] 11 11 11 p15.4 4744108 4753643 - 4576478 4586013 - 4619902 4629489 - 6480464 11256614;18451177;16381901;15489336;15489334;14702039;12477932;11597395;11560955;11230166;11076863;19795399;19690564;18029348;21139048;21890473;21906983;15601779 55128 E9PJJ9;E9PP83;E9PR29;Q9NW18 ABBA01028641;AC090719;AF360739;AF439153;AK001231;AK022923;AK056523;AK291166;AK301120;AK310888;AL832730;AMYH01003361;AY005802;BC075058;BC109063;CH471064;CS300677;DC402744;NM_018073 AAF91075;AAH75058;AAI09064;AAL11501;AAL31641;ABZ92344;BAA91569;BAB14309;BAF83855;BAG51737;BAG62716;CAK32341;CAL37628;EAW68834;EAW68835;NP_060543;Q6AZZ1 Hs.523438;Hs.738828 1796698;2165227;2165631;5014051;5022651;5037552 D11S2921;D11S4523;D8S2278;D8S2279;RNF137_1330;STS-N39251 FLJ10369;GC109;MGC126176;RNF137;SS-56;SS56 E3 ubiquitin-protein ligase TRIM68;OTTHUMP00000230828;OTTHUMP00000230830;Ro/SSA1 related protein;SSA protein SS-56;ring finger protein 137;tripartite motif-containing 68;tripartite motif-containing protein 68 APPROVED protein-coding ENSG00000167333 21161 11507 613184 REVIEWED 1316458 TRIM7 tripartite motif containing 7 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 5 5 5 q35.3 176248835 176260088 - 180553530 180564783 - 180620924 180632177 - 1580863;6480464 15489334;14984203;14702039;12477932;11916970;11331580;8889548;18029348;21940674;16341674;22939624;21143188 81786 Q9C029 ABBA01010095;AC008443;AF220032;AF396651;AF396652;AF396653;AF396654;AF396655;AK124617;AK314872;AMYH01015977;BC011567;BC080553;BC132863;BC132867;BM825056;BM970007;BQ000256;CH471165;NG_029535;NM_033342;NM_203293;NM_203294;NM_203295;NM_203296;NM_203297 AAG53486;AAH11567;AAH80553;AAI32864;AAI32868;AAK85377;AAK85378;AAK85379;AAK85380;AAK85381;ABM83511;ABM86729;BAG37387;EAW53715;EAW53716;EAW53717;EAW53718;EAW53719;EAW53720;NP_203128;NP_976038;NP_976039;NP_976040;NP_976041;NP_976042;Q9C029 Hs.487412 5014039;5022578;5022651;5024039;5037552 D11S2921;D16S325;D1S1423;D22S1584;D8S2279 GNIP;RNF90 OTTHUMP00000161581;OTTHUMP00000161582;OTTHUMP00000161583;OTTHUMP00000221885;RING finger protein 90;glycogenin-interacting protein;tripartite motif protein TRIM7;tripartite motif-containing 7;tripartite motif-containing protein 7 APPROVED protein-coding ENSG00000146054 16278 11648 609315 REVIEWED 1603795 TRIM72 tripartite motif containing 72 16 16 16 p11.2 29061514 29072686 - 31119324 31144011 + 31225342 31236510 + 6480464 16344560;19967786;19129174;15616553;15489334;14702039;12477932;21343302;21412170;19549727;22253476 493829 Q6ZMU5 ABBA01042085;AC009088;AK090695;AK131485;AMYH01007504;BC033211;CH471192;DA058421;DA821604;NM_001008274 AAH33211;BAC03506;BAD18630;EAW52145;EAW52146;NP_001008275;Q6ZMU5 Hs.661859 1700724;5020948 G35510;RH103987 MG53 mitsugumin-53;tripartite motif-containing 72;tripartite motif-containing protein 72 APPROVED protein-coding ENSG00000177238 32671 17412 613288 VALIDATED 1354482 TRIM73 tripartite motif containing 73 7 7 q11.23 74862839 74872824 + 75024903 75034888 + 1580863 18398435;15489334;14702039;12853948;12477932;16344560;22939624 375593 C9JQH3;I3L0H3;J3KQW6;Q86UV7 AC006014;AC211429;AC211486;AF498998;AK094396;AK126632;AMYH01017552;BC073926;DA452220;NM_198924 AAI52801;AAI56767;AAP30735;NP_944606;Q86UV7 Hs.632307;Hs.733046 2118154;5014051;5015879;5016478;5020881;5022200;5022651;5037552;5114536;5118444;5127372 D11S2921;D11S3316;D8S2278;D8S2279;GDB:314949;GDB:434012;GDB:4585241;GDB:4585495;L17709;L18426;STS-N62712 FLJ99347;MGC45477;TRIM50B OTTHUMP00000209160;OTTHUMP00000209161;OTTHUMP00000209761;tripartite motif-containing 50B;tripartite motif-containing 73;tripartite motif-containing protein 50B;tripartite motif-containing protein 73 APPROVED protein-coding ENSG00000178809 18162 18606 612549 VALIDATED 1319835 TRIM8 tripartite motif containing 8 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to nuclear bodies. Its structure is similar to some tumor suppressor proteins and its gene maps to a locus thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008] 10 10 10 q24.3 98145270 98159115 + 104394242 104408066 + 104404252 104418076 + 1580863;6480464 11118312;17900511;15489334;15345195;12477932;12163497;11331580;20516148;16385451;18029348;19549727;22558309;21689689;22084099;19322201;22262183;22493164 81603 Q5JSM3;Q9BZR9;R4GN03 AA907931;ABBA01063141;AF086326;AF220034;AF281046;AL360160;AL391121;AMYH01003020;BC021925;BG746631;CH471066;NM_030912 AAG53087;AAG53488;AAH21925;ABM82945;ABM86135;EAW49679;EAW49680;NP_112174;Q9BZR9 Hs.336810 1678271;2157381;5120975 RH93912;SHGC-57253;SHGC-57638 GERP;RNF27 OTTHUMP00000020372;glioblastoma expressed ring finger protein;glioblastoma-expressed RING finger protein;probable E3 ubiquitin-protein ligase TRIM8;ring finger protein 27;tripartite motif protein TRIM8;tripartite motif-containing 8;tripartite motif-containing protein 8 APPROVED protein-coding ENSG00000171206 15579 06934 606125 VALIDATED 1602827 TRIML2 tripartite motif family-like 2 4 4 4 q35.2 186321751 186335768 - 189249421 189263402 - 189012427 189026408 - 6480464 12477932;19394292 205860 B7Z6J6;B7ZLC3;Q6T5J5;Q8N7C3 ABBA01070588;AC108073;AK098667;AK300428;AMYH01014789;AY435043;AY435044;BC111959;BC111961;BC143709;CH471056;NM_173553 AAI11960;AAI11962;AAI43710;AAR11851;AAR11852;BAC05372;BAH13282;EAX04609;NP_775824;Q8N7C3 Hs.276429 FLJ25801;FLJ56315;MGC138164;MGC138166;SPRYD6 OTTHUMP00000217812;OTTHUMP00000217813;SPRY domain containing 6;SPRY domain-containing protein 6;probable E3 ubiquitin-protein ligase TRIML2;tripartite motif family-like protein 2 protein-coding ENSG00000179046 26378 08696 PROVISIONAL 1605231 TRIML1 tripartite motif family-like 1 4 4 4 q35.2 186370123 186378284 + 189297592 189305643 + 189060598 189068649 + 6480464 15489334;14702039;12477932;21832049;19156909;22493164 339976 Q8N9V2 ABBA01070588;AC138781;AK093499;AMYH01014789;BC015684;BC113860;BC114469;CH471056;NM_178556 AAH15684;AAI13861;AAI14470;BAC04185;EAX04607;EAX04608;NP_848651;Q8N9V2 Hs.348618 1337812 D4S2921 FLJ36180;MGC138638;MGC138639;RNF209 OTTHUMP00000217839;RING finger protein 209;probable E3 ubiquitin-protein ligase TRIML1;tripartite motif family-like protein 1 protein-coding ENSG00000184108 26698 08774 PROVISIONAL 736868 TRIM9 tripartite motif containing 9 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q22.1 31309019 31429455 - 50511729 50631797 - 51441979 51562422 - 1580863;6480464 21145461;16344560;16189514;15489334;14702039;12477932;12168954;11524423;11331580;9179496;1602151;16169070;20085810;20379614;17043677;21143188;22493164;23105109 114088 Q9C026 ABBA01018147;ABBA01018148;ABBA01018149;ABBA01018150;ABBA01018151;AK054781;AK055388;AL358334;AL591770;AMYH01005723;BC013414;BC063872;BF966522;CH471078;D87458;DA101991;DA173440;NM_015163;NM_052978;T77638 AAH13414;AAH63872;BAA13398;BAB70913;EAW65680;EAW65681;EAW65682;EAW65683;EAW65684;NP_055978;NP_443210;Q9C026 Hs.654750 1658713;1683707;1690602;1696528;1736466;1762661;1763351;2108603;2115245;2142113;2157652;2167169;2177488 D14S718E;D3S3490;G20596;G35429;G35926;RH69926;RH93318;SHGC-146456;SHGC-147079;SHGC-83253;STS-AA017099;TRIM9_8125;WI-21719 KIAA0282;RNF91;SPRING E3 ubiquitin-protein ligase TRIM9;OTTHUMP00000178971;OTTHUMP00000178972;OTTHUMP00000244861;RING finger protein 91;homolog of rat RING finger Spring;tripartite motif protein 9;tripartite motif-containing 9;tripartite motif-containing protein 9 APPROVED protein-coding ENSG00000100505 16288 05947 606555 REVIEWED 732056 TRIP10 thyroid hormone receptor interactor 10 19 19 p13.3 6690707 6702529 + 6739707 6751529 + 1580863;6480464;6484113;6907045 17081983;17512409;9210375;17785506;16630611;16343437;16326391;16318909;16189514;15752756;15489334;15047863;14502124;12736724;12604778;12477932;12456510;12242347;12054674;11691828;11431473;11294612;11069762;10713100;8125298;7776974;15163742;20940394;19041431;19631450;19632321;21299869;22863883;16418535;21139048;21906983;21044950;18329367 9322 M0R070;M0R0F9;M0R2H7;Q8NFL1 AB007845;AB072596;ABBA01051474;AC008760;AF380114;AF502289;AJ000414;AK223109;AK313296;AL832186;AMYH01009378;AMYH01009379;AY081141;BC013002;BG494851;BQ931996;BT006698;BT020167;BT020171;CB997985;CH471139;CR536513;L40379;NM_004240 AAC41729;AAH13002;AAK77492;AAL89588;AAM46851;AAP35344;AAV38969;AAV43773;ABM83673;ABM86961;BAB88853;BAD96829;BAF80144;BAG36103;CAA04062;CAG38751;EAW69060;EAW69061;EAW69062;EAW69063;EAW69064;EAW69065;NP_004231;Q15642 Hs.515094 1677284;1689382;1713175;1734610;1847057;2107709 D19S618E;RH120374;RH80227;RH98259;STS-W88625;TRIP10_7208 CIP4;HSTP;STOT;STP OTTHUMP00000196789;OTTHUMP00000196790;OTTHUMP00000196791;TR-interacting protein 10;TRIP-10;cdc42-interacting protein 4;protein Felic;salt tolerant protein;salt tolerator;thyroid receptor interacting protein 10;thyroid receptor-interacting protein 10 protein-coding ENSG00000125733 12304 05142 604504 VALIDATED 1318006 TRIP11 thyroid hormone receptor interactor 11 This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010] 14 14 q31-q32 91505614 91576139 - 92434243 92506403 - 1580863;6480464;7240710 12383348;17438371;9256431;18029348;19266077;18451304;18391951;18391950;17081983;16344560;15485806;12508121;12477932;11463340;10189370;9373237;7776974;20546612;16341674;19715559;19730683;20089971;16051665;17979178;22792062;23000965;21139048;21906983;21628590;20881960;16713569;8603043 9321 B2RUT2;G3V4R7;H0YJ97;H0YJI2;Q15643;Q6MZL5 ABBA01030463;ABBA01030464;ABBA01030465;AF007217;AF011368;AK307489;AL049872;AL599917;AMYH01005955;AW002857;BC002656;BC069008;BC146845;BM770594;BU628691;BX113728;BX486357;BX641024;CH471061;DA111770;L40380;NG_016970;NM_004239;Y12490 AAB84386;AAC41730;AAD09135;AAI46846;CAA73095;CAE46015;EAW81468;EAW81469;NP_004230;Q15643 Hs.632339;Hs.741740 1673180;2108605;2131423;2142001;2163806;5015961;5037552;5126362 D15S1477;D8S2279;RH17544;RH17653;RH41983;RH78915;STS-J04802;TRIP11_7940 ACG1A;CEV14;GMAP-210;TRIP-11;TRIP230 Golgi-microtubule-associated protein of 210 kDa;OTTHUMP00000245181;OTTHUMP00000245182;TR-interacting protein 11;TRIP-11;clonal evolution-related gene on chromosome 14 protein;golgi-associated microtubule-binding protein 210;thyroid receptor-interacting protein 11 APPROVED protein-coding ENSG00000100815 12305 05143 200600;604505 REVIEWED 1318084 TRIO trio Rho guanine nucleotide exchange factor 5 5 p15.2 14196829 14562458 + 14143829 14509458 + 1580863;6480464 8643598;19008376;18519826;17606614;17391702;17081983;16752383;16094384;16033331;15489334;15308664;15215162;15199069;14702039;12477932;11595749;11146652;10948190;10341202;9790533;9154137;16169070;11756498;12376548;12551902;12787561;18936096;19911011;20083228;20379614;17043677;22939629;22238672;21139048;22558309;22323290;22696684;23177739 7204 E7EPJ7;E7EWP2;F5H228;O75962 AB115332;AB209754;ABBA01020636;ABBA01020637;ABBA01020638;AC010419;AC016549;AC016654;AC016656;AC026456;AF091395;AI478154;AK124770;AK131423;AK304786;AMYH01014921;BC017268;BC035585;BF058117;BQ009698;BQ691537;CH471102;NM_007118;U42390 AAC34245;AAC43042;AAH17268;AAH35585;BAC79392;BAD18570;BAD92991;BAG65537;EAX08044;EAX08045;EAX08046;EAX08047;EAX08048;NP_009049;O75962 Hs.130031 1647583;1652111;1662386;1664387;1677947;1688516;1695840;1717821;1748339;1767091;1770804;1778756;1849688;2114926;2117572;2122946;2132239;2155011;2156838;2161408;2170559;2172218;2172750;5093576 A007A12;A009S08;D5S2635;D5S2889;D5S2891;D5S2903;D5S2906;G32800;G66896;HSC2LD052;RH121821;RH12640;RH16320;RH45695;RH78758;RH80554;SGC35149;SHGC-35052;SHGC-78779;STS-H82060;WI-11436;WI-15185;WI-15727;WI-18318 ARHGEF23;FLJ42780;tgat OTTHUMP00000161689;OTTHUMP00000220780;OTTHUMP00000221690;PTPRF-interacting protein;triple functional domain (PTPRF interacting);triple functional domain protein APPROVED protein-coding ENSG00000038382 12303 03537 601893 VALIDATED 1605399 TRIOBP TRIO and F-actin binding protein This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008] 22 22 q13.1 36423574 36502509 + 38092995 38172563 + 6480464;7240710 17629495;18194665;17081983;16385458;16385457;16381901;16344560;15489336;15489334;14702039;12477932;12168954;11258795;11076863;10591208;9853615;8889548;8500161;16169070;11148140;19913121;20628086;18029348;19996280;20360068;21988832;19322201;22820163;20301607 11078 F6TR96;F6WMF4;F6WYE2;F8W6V6;H0Y5J9;H0Y5T8;H7BXW4;Q5R3M6 AB015343;ABBA01055483;ABBA01055484;ABBA01055485;ABBA01055486;AF281030;AK096634;AL713698;AMYH01012755;AMYH01012756;AW444985;BC003618;BC004303;BC013278;BC022200;BM682463;BQ880866;BU621193;BU675400;BX342673;CH471095;DA790674;DQ228003;DQ228004;DQ228005;NG_012857;NM_001039141;NM_007032;NM_138632;Z83844 AAG44841;AAH03618;AAH04303;AAH13278;ABB59559;ABB59560;ABB59561;BAA34800;CAD28497;CAL37626;CAL37676;EAW60181;EAW60182;EAW60183;EAW60184;EAW60185;EAW60186;NP_001034230;NP_008963;NP_619538;Q9H2D6 Hs.533030 1652005;1659259;2155453;5015861;5015961;5023733;5037552;7185938 AU048745;D10S16;D15S1477;D8S2279;RH70132;SHGC-32573;STS-R01098 DFNB28;FLJ39315;HRIHFB2122;KIAA1662;TARA;dJ37E16.4 OTTHUMP00000198149;OTTHUMP00000198152;OTTHUMP00000198153;TRIO and F-actin-binding protein;protein Tara;tara-like protein;trio-associated repeat on actin APPROVED protein-coding ENSG00000100106 17009 11028 609761;609823 REVIEWED 1346845 TRMEP1 tRNA methionine elongator pseudogene 1 6 6 6 p22.1 30054930 30055002 + 28556482 28556554 + 28448503 28448575 + 8293999 7211 ABBA01038019;AMYH01016190;L15363;NG_001205;Z98745 pseudo 12321 INFERRED 1315318 TRIP12 thyroid hormone receptor interactor 12 2 2 2 q36.3 224407870 224562590 - 230340174 230494899 - 230631930 230786655 - 1580863;6480464;6907045 7776974;19028681;18627766;17081983;16964243;15302935;15231748;12477932;12421765;7584044;22884692;17643375;19615732;19730683;20208519;20379614;20829358;23383273;21182205;22939629;22561347;22586326;23209776;19596686;20699639;21139048;21890473;21906983;22124266;17110338;23000965;22053931;22505724;23034180;9575161 9320 B4DYJ6;C9JLD7;C9JLJ5;C9JSX9;F8W9P3;G5E9G6;H7C1L9;H7C2Y1;Q14669 ABBA01050137;ABBA01050138;ABBA01050139;ABBA01050140;ABBA01050141;ABBA01050142;AC009973;AC093384;AC105380;AK302468;AK310971;AMYH01011546;AMYH01011547;BC037956;BC113891;BC114556;CH471063;D28476;EU489742;L40383;NM_004238 AAC41731;AAI13892;AAI14557;AAX82004;AAY14681;AAY14755;ACC99349;BAA05837;BAG63758;EAW70896;EAW70897;EAW70898;EAW70899;EAW70900;EAW70901;EAW70902;EAW70903;EAW70904;EAW70905;EAW70906;EAW70907;EAW70908;NP_004229;Q14669 Hs.591633 1298283;1648437;1650425;1701036;1725809;1746003;1750409;2134659;2152068;2167486;2218844;5111586;7186398 D2S396;G29175;G61991;RH104145;RH125936;RH16559;RH25281;RH68235;SHGC-112584;SHGC-33448;TRIP12_3930;WI-15836 KIAA0045;MGC138849;MGC138850;ULF E3 ubiquitin-protein ligase TRIP12;E3 ubiquitin-protein ligase for Arf;OTTHUMP00000204207;OTTHUMP00000204209;OTTHUMP00000204210;TR-interacting protein 12;TRIP-12;probable E3 ubiquitin-protein ligase TRIP12;thyroid receptor interacting protein 12;thyroid receptor-interacting protein 12 protein-coding ENSG00000153827 12306 05144 604506 PROVISIONAL 1319496 TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae) 4 4 4 q23 97765280 97782608 - 100686904 100703848 - 100467864 100485189 - 737633;1580863;6480464 12477932 22863883 93587 D6R954;Q8TBZ6 ABBA01063673;ABBA01063674;AC083902;AF106046;AK000332;AK313548;AMYH01014421;AW242551;BC028373;CH471057;NM_001134665;NM_001134666;NM_152292 AAD21019;AAH28373;BAG36324;EAX06104;EAX06105;NP_001128137;NP_001128138;NP_689505;Q8TBZ6 Hs.380412 1698476;2152392 RH102787;STS-AA001648 FLJ20325;MGC27034;RG9MTD2;TRM10 OTTHUMP00000161650;OTTHUMP00000161651;OTTHUMP00000161652;OTTHUMP00000220442;OTTHUMP00000220443;RNA (guanine-9-) methyltransferase domain containing 2;RNA (guanine-9-)-methyltransferase domain-containing protein 2;tRNA methyltransferase 10 homolog A APPROVED protein-coding ENSG00000145331 28403 15241 VALIDATED 1321812 TRMT10B tRNA methyltransferase 10 homolog B (S. cerevisiae) 9 9 9 p13.2 37686996 37712164 + 37743802 37768969 + 37753802 37778969 + 737633;1580863;6480464 12477932 14702039;17207965;21988832 158234 B7Z216;B7Z3D3;F5H380;F5H4N3;F5H598;Q6PF06 ABBA01050388;AK056017;AK092718;AK294219;AK295733;AK304516;AK315922;AL138752;AL591470;AMYH01019361;BC012175;BC057774;CH471071;EC553146;NM_144964 AAH12175;AAH57774;ADQ32960;BAB71074;BAC03957;BAH11702;BAH12169;BAH14204;BAH14293;EAW58265;EAW58266;EAW58267;EAW58268;EAW58269;NP_659401;Q6PF06 Hs.655614 1686378;1687624;1699064;1738261;1738271;1854243;5015322;5015404;5016478;5020946;5022450;5024413;5037552;5109281 D10S275;D10S512;D1S1425;D8S2279;D9S1220;D9S1226;D9S2015;GDB:434012;L17705;L17877;L17971;RH103107;RH91760;RH92533 FLJ31455;RG9MTD3;RP11-3J10.9;bA3J10.9 OTTHUMP00000021393;OTTHUMP00000021394;RNA (guanine-9-) methyltransferase domain containing 3;RNA (guanine-9-)-methyltransferase domain-containing protein 3;tRNA methyltransferase 10 homolog B APPROVED protein-coding ENSG00000165275 26454 15242 VALIDATED 1315680 TRIP4 thyroid hormone receptor interactor 4 15 15 15 q22.31 41558018 41625175 + 62467073 62534555 + 64680003 64747502 + 1580863;6480464 10454579;7776974;19074642;15592455;15489334;12477932;12077347;10567404;12390891;18029348;11500849;20211142;20133760;12938929;21890473;21906983 9325 H0YK63;H0YKD9;H0YL91;H0YLN7;H3BMU9;Q15650 ABBA01038887;ABBA01038888;ABBA01038889;ABBA01038890;AC087632;AC091231;AK000433;AK314319;AMYH01006709;AMYH01006710;BC012448;BG166305;BQ225927;CA425850;CH471082;L40371;NM_016213 AAC41738;AAH12448;ABZ92275;BAG36967;EAW77684;EAW77685;NP_057297;Q15650 Hs.500340 1667414;2169369 RH78914;SGC30293 ASC-1;ASC1;HsT17391 OTTHUMP00000164011;TR-interacting protein 4;TRIP-4;activating signal cointegrator 1;thyroid receptor interacting protein 4;thyroid receptor-interacting protein 4 protein-coding ENSG00000103671 12310 05140 604501 VALIDATED 1314894 TRMT10C tRNA methyltransferase 10 homolog C (S. cerevisiae) This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012] 3 3 3 q12.3 99673048 99677425 + 102763402 102767779 + 101280712 101285089 + 737633;1580863;6480464 12477932 10508479;18984158;21145461;19615732;17207965;20877624;22028365;18029348;21139048;21857155;21907836;16341674;21593607;22797925 54931 C9JVB6;Q7L0Y3 ABBA01061774;AC073861;AF086243;AF155111;AF226052;AK000439;AK026532;AMYH01013360;AY561707;BC035967;BM752893;BU619586;CH471052;NM_017819 AAD42877;AAF86952;AAH35967;AAS66980;ADQ32147;BAA91166;EAW79795;NP_060289;Q7L0Y3 Hs.594839;Hs.744223;Hs.744224 1653896;1699570;1854333;2149279;2182794 RH103386;RH78769;SHGC-36007;SHGC-57475;STS-H77546 FLJ20432;HNYA;MRPP1;RG9MTD1 HBV pre-S2 trans-regulated protein 2;NY-REN-49 antigen;OTTHUMP00000214121;OTTHUMP00000214122;RNA (guanine-9-) methyltransferase domain containing 1;RNA (guanine-9-)-methyltransferase domain-containing protein 1;mitochondrial RNase P protein 1;mitochondrial RNase P subunit 1;mitochondrial ribonuclease P protein 1;renal carcinoma antigen NY-REN-49 APPROVED protein-coding ENSG00000174173 26022 15240 REVIEWED 1318331 TRIP13 thyroid hormone receptor interactor 13 This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009] 5 5 5 p15.33 934119 956942 + 946004 971160 + 892969 918164 + 1580863;6480464 9223484;16169070;7776974;16189514;15592455;15489334;15388255;12477932;11591653;9199503;21145461;20562859;17643375;18328944;19060904;19615732;22863883;22939629;22990118;18781797;21572988;21987572;21139048;21890473;21906983;21963094;22623531;20473970;22174317;22797925 9319 H0YAL2;Q15645 ABBA01034224;AC122719;AK310376;AMYH01014848;BC000404;BC019294;BG722761;BM999741;CH471102;CR456744;DB443523;L40384;NM_001166260;NM_004237;U96131 AAB64095;AAC41732;AAH00404;AAH19294;ABZ92274;CAG33025;EAX08185;EAX08186;NP_001159732;NP_004228;Q15645 Hs.436187 1688334;1778883;2108607;2139737;5014051;5022200;5037552 D8S2278;D8S2279;L18426;RH12369;RH76617;SHGC-31846;TRIP13_7939 16E1BP 16E1-BP;HPV16 E1 protein binding protein;HPV16 E1 protein-binding protein;OTTHUMP00000115407;OTTHUMP00000221361;TR-interacting protein 13;TRIP-13;human papillomavirus type 16 E1 protein-binding protein;pachytene checkpoint protein 2 homolog;thyroid receptor interacting protein 13;thyroid receptor-interacting protein 13 APPROVED protein-coding ENSG00000071539 12307 05145 604507 REVIEWED 6484039 TRMT112P1 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 1 4 q26 117300040 117300610 + 100288861 ABBA01063860;AC024248;AMYH01014478;NG_027524 pseudo 44020 INFERRED 6484014 TRMT112P3 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 3 17 q23.2 61028025 61028549 - 729667 ABBA01035336;AC005972;AMYH01008548;NG_027522 pseudo 44022 INFERRED 6484041 TRMT112P4 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 4 9 q31.1 104118580 104119126 - 100288173 ABBA01042874;AL359893;AMYH01021579;NG_027523 pseudo 44023 INFERRED 6484056 TRMT112P6 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 6 2 p23.3 26250902 26251493 - 391358 ABBA01045170;AC013449;AMYH01010188;NG_027521 pseudo 44025 INFERRED 6484030 TRMT112P7 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 7 8 q11.23 55391953 55392553 - 100287567 ABBA01041744;AC091076;AMYH01018727;NG_027525 pseudo 44026 INFERRED 2299991 TRIQK triple QxxK/R motif containing 8 8 8 q22.1 90082622 90165219 - 93964934 94047548 - 93895758 93978372 - 6480464 14702039;12477932;16344560;18828657 286144 E5RG44;E5RGJ1;E5RIT1;Q629K1 ABBA01037432;AC027242;AC117834;AF130048;AK096398;AK097956;AMYH01018880;BC031029;BC065838;BC104254;BC104255;BC110326;BC113007;BC113008;BQ009934;BX474727;CB989812;CH471060;CR749421;DA093687;DA115453;DA191587;DQ351291;NM_001171795;NM_001171796;NM_001171797;NM_001171798;NM_001171799;NM_001191035;NM_001191036 AAG35476;ABC84190;CAH56121;EAW91691;EAW91692;NP_001165266;NP_001165267;NP_001165268;NP_001165269;NP_001165270;NP_001177964;NP_001177965;Q629K1 Hs.440643 1690796;1853620;2120608;2126259;2135512;2136226;2136484;2137393;5092846;5093040 A006K02;A009E36;D8S2096;G31519;G32366;G32484;RH64836;RH65066;RH80008;STS-R99251 C8orf83;DKFZp779L1068;FLJ40637;PRO0845;UPF0599 OTTHUMP00000226026;OTTHUMP00000226027;OTTHUMP00000226028;OTTHUMP00000226110;OTTHUMP00000226111;OTTHUMP00000226112;OTTHUMP00000226113;OTTHUMP00000226114;OTTHUMP00000226115;OTTHUMP00000226116;OTTHUMP00000226117;OTTHUMP00000226168;OTTHUMP00000226169;OTTHUMP00000226170;PRO0845;hypothetical protein LOC286144;protein TRIQK;triple QxxK/R motif-containing protein;triple repetitive-sequence of QXXK/R;triple repetitive-sequence of QXXK/R protein homolog APPROVED protein-coding ENSG00000205133 27828 VALIDATED 1353366 TRIP6 thyroid hormone receptor interactor 6 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] 7 7 q22 100302886 100309012 + 100464950 100471076 + 1580863;6480464;6907045 17353931;15657077;9598321;14688263;19259951;19017743;18348201;17652164;17081983;16624523;16240724;16137684;15489334;15489293;15148318;14702039;12690205;12533418;12477932;11782456;11771657;11336797;11239002;10826496;10794523;10400701;9466265;7776974;16189514;15761153;16713569;19060904;19293149;20876301;23339869;21139048;22863883;22939629;22054418;21689746;19616115;22286099;18654987;23088713;23145173;20368287;21963094;21988832;23313295;16880273;22990020 7205 H7BZE2;Q9BXP3 AB628085;AB628086;AB628087;AB628088;ABBA01013176;ABBA01013177;AC011895;AF000974;AF025437;AF093836;AF312032;AJ001902;AK056773;AK291906;AK309312;AMYH01017745;AMYH01017746;BC002680;BC004249;BC004999;BC021540;BC028985;BM800083;CH236956;CH471091;CR749505;L40374;NM_003302 AAB62222;AAC39557;AAC41740;AAD03037;AAH02680;AAH04249;AAH04999;AAH21540;AAH28985;AAK21007;ABM83819;ABM87139;BAF84595;BAK20496;BAK20497;BAK20498;BAK20499;CAA05080;CAH18326;EAL23817;EAW76471;EAW76472;EAW76473;EAW76474;NP_003293;Q15654 Hs.534360 1659990;2135342;2166527;5112143 A002D09;D7S2888;RH101934;SHGC-30159 MGC10556;MGC10558;MGC29959;MGC3837;MGC4423;OIP-1;OIP1;TRIP-6;TRIP6i2;ZRP-1 OIP-1;OPA-interacting protein 1;OTTHUMP00000211326;TR-interacting protein 6;TRIP-6;thyroid hormone receptor interacting protein 6;thyroid receptor-interacting protein 6;zyxin related protein 1;zyxin-related protein 1 APPROVED protein-coding ENSG00000087077 12311 04242 602933 REVIEWED 1312422 TRIT1 tRNA isopentenyltransferase 1 1 1 1 p34.2 38588146 38630620 - 40079315 40121764 - 40306703 40349177 - 1580863;6480464 15489334;11111046;17145094;17081983;16710414;16344560;15870694;14702039;12477932;11560893;8125298;16169070;20877624;20095854;20379614 54802 B4E3K2;Q3T7B4;Q3T7B5;Q3T7B8;Q53F11;Q5QPK7;Q9H3H1 ABBA01023197;ABBA01023198;AF074918;AK000068;AK074222;AK223478;AK296453;AK304759;AK307910;AL033527;AMYH01000530;AY052768;AY303390;AY702933;AY702934;AY702935;AY702936;AY702937;AY702938;AY702939;AY702940;AY702941;AY702942;AY702943;AY702944;AY702945;AY702946;AY702947;BC010741;BC107569;BC128155;BC128156;CH471059;CR457226;DA031689;NM_017646 AAG31324;AAH10741;AAI07570;AAI28156;AAI28157;AAL14107;AAP60111;AAW63394;AAW63395;AAW63396;AAW63397;AAW63398;AAW63399;AAW63400;AAW63401;AAW63402;AAW63403;AAW63404;AAW63405;AAW63406;AAW63407;BAA90923;BAD97198;BAG59101;BAG65514;CAG33507;EAX07252;EAX07253;NP_060116;Q9H3H1 Hs.356554 1338717;2133718;2171007 D1S1598;HSC2EC052;SHGC-74639 FLJ20061;IPT;MGC149242;MGC149243;MOD5 IPP transferase;IPPT;IPTase;OTTHUMP00000010832;OTTHUMP00000010833;OTTHUMP00000010834;hGRO1;isopentenyl-diphosphate:tRNA isopentenyltransferase;tRNA dimethylallyltransferase, mitochondrial;tRNA isopentenylpyrophosphate transferase protein-coding ENSG00000043514 20286 18226 VALIDATED 1601995 TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae) 19 19 19 p13.2 13106119 13117969 - 13076715 13088332 - 13215714 13227563 - 6480464 16964243;16189514;15489334;15057824;14702039;12477932;10982862;22939629;22863883;21139048;21906983;21044950;22505724 55621 A8K8L2;K7EJX9;K7EMZ2;K7ENI9;K7EQQ8;K7EQU7;K7EQY6;K7ERR5;Q9NXH9 ABBA01029754;ABBA01029755;AC005546;AF075055;AF196479;AK000251;AK292377;AK295245;AK304636;AMYH01009501;BC002492;BC018302;BC034242;BC040126;BF798026;CH471106;DC344734;NM_001136035;NM_001142554;NM_017722 AAC33150;AAG28495;AAH02492;AAH18302;AAH40126;ADZ15558;BAA91031;BAF85066;BAG58237;BAG65415;EAW84345;EAW84346;EAW84347;EAW84348;EAW84349;EAW84350;EAW84351;NP_001129507;NP_001136026;NP_060192;Q9NXH9 Hs.515169 1686424;1734696;2143310;2166004 D19S694E;RH47064;RH80493;WI-19708 FLJ20244;TRM1 N(2),N(2)-dimethylguanosine tRNA methyltransferase;TRM1 tRNA methyltransferase 1 homolog;tRNA (guanine(26)-N(2))-dimethyltransferase;tRNA 2,2-dimethylguanosine-26 methyltransferase;tRNA(guanine-26,N(2)-N(2)) methyltransferase;tRNA(m(2,2)G26)dimethyltransferase APPROVED protein-coding ENSG00000104907 25980 08617 611669 VALIDATED 1314969 TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) 6 6 6 q11.1-q22.33 127049859 127102703 + 126349269 126402115 + 126307576 126360422 + 6480464;6907045 15592455;15489334;14574404;12477932;20308539;19615732;21102462;22386179 60487 F2Z2Q4;H0Y768;K7EJQ4;K7ENP1;K7EPZ4;Q5JY01;Q5JY02;Q7Z4G4 ABBA01025943;AF182423;AF532977;AK308651;AL035689;AMYH01016649;BC056878;CH471051;NM_001031712 AAG14959;AAH56878;AAQ10284;EAW48124;EAW48125;EAW48126;EAW48127;NP_001026882;Q7Z4G4 Hs.404186 1688207;1690616;1719811;2154734 D6S2021;RH123598;RH92418;RH92854 C6orf75;MDS024;TRM11;TRMT11-1 OTTHUMP00000017153;OTTHUMP00000017154;chromosome 6 open reading frame 75;tRNA (guanine(10)-N2)-methyltransferase homolog;tRNA guanosine-2'-O-methyltransferase TRM11 homolog protein-coding ENSG00000066651 21080 12898 VALIDATED 1350620 TRMT2B tRNA methyltransferase 2 homolog B (S. cerevisiae) This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Nov 2009] X X X q22.1 100783109 100825878 - 100151187 100193726 - 100264334 100307105 - 737633;6480464 12477932 14702039;16344560;21139048 79979 F2Z384;Q9H9K2 ABBA01044927;ABBA01044928;ABBA01044929;ABBA01044930;ABBA01044931;AI222705;AK022749;AK315780;AL109952;AL133275;AL832849;AMYH01022725;BC007526;BC008067;BC009437;BC020116;BC034272;BG747665;BX647969;CH471115;DA391184;DA454040;NG_015971;NM_001167970;NM_001167971;NM_001167972;NM_024917;Z97985 AAH07526;AAH08067;AAH09437;AAH20116;AAH34272;BAB14223;BAG38128;CAI46112;EAX02831;EAX02832;EAX02833;EAX02834;EAX02835;EAX02836;EAX02837;EAX02838;NP_001161442;NP_001161443;NP_001161444;NP_079193;Q96GJ1 Hs.496501 1698656;5022450;5022651 D10S275;D11S2921;RH102886 CXorf34;FLJ12687;dJ341D10.3 OTTHUMP00000023664;OTTHUMP00000023665;OTTHUMP00000023666;OTTHUMP00000023667;TRM2 homolog;TRM2 tRNA methyltransferase 2 homolog B;tRNA (uracil(54)-C(5))-methyltransferase homolog;tRNA (uracil-5-)-methyltransferase homolog APPROVED protein-coding ENSG00000188917 25748 06520 REVIEWED 1604003 TRMT13 tRNA methyltransferase 13 homolog (S. cerevisiae) 1 1 1 p21.2 98855584 98872932 + 100371307 100388641 + 100598706 100616054 + 6480464 12477932;16710414;15489334;14702039;11799066;19322201 54482 Q5VVK9;Q5VVL2;Q9NUP7 ABBA01045445;AK001149;AK002081;AK289404;AK294738;AK295828;AK298941;AL445928;AL699548;AMYH01000825;BC057226;BC075811;CH471097;CR745287;NM_019083 AAH75811;BAA91520;BAA92074;BAF82093;BAG57881;BAG58644;BAG61041;EAW72970;EAW72971;EAW72972;EAW72973;NP_061956;Q9NUP7 Hs.729095 1671101;2134705 D1S1582;SHGC-34523 CCDC76;FLJ10287;FLJ11219 OTTHUMP00000012532;coiled-coil domain containing 76;coiled-coil domain-containing protein 76;tRNA [Gm4] methyltransferase;tRNA guanosine-2'-O-methyltransferase TRM13 homolog;tRNA:m(4)X modification enzyme TRM13 homolog APPROVED protein-coding ENSG00000122435 25502 07659 VALIDATED 1605990 TRMT12 tRNA methyltransferase 12 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] 8 8 8 q24.13 121651199 121653418 + 125532229 125534448 + 125463048 125465267 + 6480464 17440925;17150819;16005430;15489334;15342556;14702039;12477932;8125298 55039 E5RHH6;Q53H54 AA608716;ABBA01037895;AC090192;AF313041;AK000779;AK222727;AK225083;AMYH01019008;BC003057;BC011713;BP342608;CH471060;NM_017956 AAH03057;AAH11713;BAA91374;BAD96447;EAW92062;NP_060426;Q53H54 Hs.9925 2129123 D8S1919 FLJ20772;TRM12;TYW2 OTTHUMP00000228204;alpha-amino-alpha-carboxypropyl transferase TYW2;homolog of yeast tRNA methyltransferase;tRNA methyltranferase 12 homolog;tRNA wybutosine-synthesizing protein 2 homolog;tRNA-yW synthesizing protein 2;tRNA-yW-synthesizing protein 2 APPROVED protein-coding ENSG00000183665 26091 07947 611244 VALIDATED 1604820 TRMT112 tRNA methyltransferase 11-2 homolog (S. cerevisiae) 11 11 11 q13.1 61410247 61411117 - 63840739 63841609 - 64084163 64085033 - 6480464 15231747;17353931;15635413;15489334;12477932;11042152;10931946;18539146;22863883;22939629;20639865;21987572;21139048;21890473;21906983;21145461;22053931;22505724 51504 F5GX77;F5GYQ2;F5GZZ7;J3KNG5;Q9UI30 ABBA01003296;AF110774;AF161501;AF229068;AK312050;AMYH01003705;AP001453;BC017172;BC029482;BC105294;CH471076;CS488887;NM_016404 AAF14857;AAF29116;AAF82266;AAH17172;AAH29482;AAI05295;ABM83187;ABM86389;BAG34986;CAM55961;EAW74251;EAW74252;EAW74253;NP_057488;Q9UI30 Hs.333579 1660884;1719759;2154736;2167495 G33076;RH123571;SGC30525;WI-8671 HSPC152;HSPC170;TRM112;TRMT11-2 HSPC170 protein;OTTHUMP00000237051;OTTHUMP00000237052;OTTHUMP00000237053;OTTHUMP00000237320;TRM112-like protein;tRNA methyltransferase 112 homolog APPROVED protein-coding ENSG00000173113 26940 13705 PROVISIONAL 1317348 TRMT1L tRNA methyltransferase 1 homolog (S. cerevisiae)-like This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011] 1 1 1 q25.2 158197913 158236811 - 183353856 183392706 - 185087217 185126230 - 6480464 17198746;16344560;15635413;14702039;12477932;11318611;21145461;21832049;22939629;22990118;16196087;17314511;19156129;21139048;21252943;22174317 81627 B4DXX1;Q7Z2T5 ABBA01027723;AF163261;AF288399;AK027418;AK074936;AK074993;AK098359;AK131460;AK226103;AK302166;AK312801;AL109865;AL136133;AMYH01001561;BC026883;BC035430;BC039738;BC045535;BC053961;BU198525;CH471067;CQ783798;DB093548;DC398320;NM_001202423;NM_030934 AAG60618;AAH39738;AAH45535;AAQ13590;BAC11302;BAC11341;BAD18605;BAG35660;BAG63533;CAF86867;EAW91189;EAW91190;NP_001189352;NP_112196;Q7Z2T5 Hs.107149 1650519;1676234 RH46035;SHGC-76037 C1orf25;MGC25112;MGC57134;MST070;MSTP070;TRM1L;bG120K12.3 OTTHUMP00000033400;TRM1 tRNA methyltransferase 1-like;TRM1-like protein;TRMT1-like protein APPROVED protein-coding ENSG00000121486 16782 12722 611673 REVIEWED 1343016 TRMT61A tRNA methyltransferase 61 homolog A (S. cerevisiae) 14 14 14 q32 84049737 84057638 + 103065262 103073163 + 103995509 104003410 + 737633;6480464 12477932 21145461;16043508;15489334;14702039;11181995;22863883;22939629;21139048 115708 H0Y2Q1;Q96FX7 ABBA01048422;AK097771;AL133367;AL139300;AMYH01006048;BC007241;BC010167;BC016033;BQ015210;CH471061;DB496873;NM_152307 AAH10167;AAH16033;BAC05168;EAW81823;EAW81824;EAW81825;NP_689520;Q96FX7 Hs.525610 1783002;2120943 RH66763;SHGC-107528 C14orf172;FLJ40452;GCD14;Gcd14p;TRM61;hTRM61 OTTHUMP00000246784;tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A;tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRM61;tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61A;tRNA(m1A58)-methyltransferase subunit TRM61;tRNA(m1A58)-methyltransferase subunit TRMT61A;tRNA(m1A58)MTase subunit TRM61;tRNA(m1A58)MTase subunit TRMT61A protein-coding ENSG00000166166 23790 08810 VALIDATED 1350834 TRNAA1 transfer RNA alanine 1 (anticodon UGC) 6 MT p22.1 28878556 28878626 - 28770577 28770647 - 8661117 7154 ABBA01038026;AL662890;AL901607;AMYH01016194;BX470194;CR753651;Z69591 TRAN trna alanine trna 12098 601431 MODEL 1602887 TRMT61B tRNA methyltransferase 61 homolog B (S. cerevisiae) 2 2 2 p23.2 28917698 28938355 - 28926191 28946669 - 29072687 29093175 - 6480464 12477932;11230166;20562859;17207965;8125298;23097428;21903422 55006 F8WDR2;H7C2E8;Q9BVS5 ABBA01045240;ABBA01045241;ABBA01045242;AC097720;AK225524;AK225551;AL136689;AMYH01010207;BC000952;BC010365;CH471053;NM_017910 AAH00952;AAH10365;AAY24015;ADQ32730;CAB66624;EAX00524;EAX00525;NP_060380;Q9BVS5 Hs.468026 1665822 WI-15096 DKFZp564I2178;FLJ20628 OTTHUMP00000158543;OTTHUMP00000200986;potential tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61B;potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B;tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial protein-coding ENSG00000171103 26070 07935 VALIDATED 1604368 TRMT2A tRNA methyltransferase 2 homolog A (S. cerevisiae) The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 22 22 22 q11.21 3951448 3956818 - 18479398 18484768 - 20099389 20104818 - 6480464 18029348;18075473;15489334;15461802;14702039;12477932;10591208;9417108;19615732;20307320;21832049;22939629;21252943;21900206;21903422;21890473 27037 C9K041;F2Z2W7;H7BZZ4;H7C100;Q8IZ69 ABBA01005394;AC006547;AI539558;AK025106;AK057029;AK304068;AMYH01012483;BC013352;BC017184;BC108251;BI756672;BX349507;BX349795;CA440188;CH471176;CR456354;NM_001257994;NM_022727;NM_182984 AAH13352;AAH17184;AAI08252;BAB15067;BAB71349;BAG64975;CAG30240;EAX02995;EAX02996;EAX02997;NP_001244923;NP_073564;NP_892029;Q8IZ69 Hs.713579 1694808;1777195;2128909 G43633;RH78249;WI-16098 HTF9C;MGC102728 OTTHUMP00000197397;OTTHUMP00000197442;OTTHUMP00000197443;OTTHUMP00000197445;TRM2 tRNA methyltransferase 2 homolog A;hpaII tiny fragments locus 9c protein;tRNA (uracil-5-)-methyltransferase homolog A;tRNA methyltransferase 2 homolog A APPROVED protein-coding ENSG00000099899 24974 13719 611151 REVIEWED 2300911 TRNAA10 transfer RNA alanine 10 (anticodon UGC) MT 28785012 28785083 - 100189066 ABBA01038027;AL662890;AL669978;AMYH01016194;BX470194;CR753651 1767767 D6S2275 trna 34625 MODEL 2300895 TRNAA11 transfer RNA alanine 11 (anticodon UGC) MT 28726141 28726212 - 100189082 ABBA01038026;AL662890;AL901607;AMYH01016193;BX088523;CR753651 trna 34642 MODEL 2300884 TRNAA13 transfer RNA alanine 13 (anticodon AGC) MT 28806221 28806292 - 100189093 ABBA01038028;AL662890;AL669978;AMYH01016194;BX119924;CR753651;CR936879 trna 34654 MODEL 2300885 TRNAA12 transfer RNA alanine 12 (anticodon AGC) MT 28687481 28687552 + 100189092 ABBA01038025;AL390196;AL671879;AMYH01016192 trna 34653 MODEL 2300871 TRNAA14 transfer RNA alanine 14 (anticodon AGC) MT 58182679 58182751 - 100189106 AL021368;AMYH01016375 1676033 RH91368 trna 34667 MODEL 2300863 TRNAA15 transfer RNA alanine 15 (anticodon UGC) MT 28611222 28611293 + 100189114 ABBA01038024;AL121932;AL671879;AMYH01016191 2127372 RH37562 trna 34676 MODEL 2300861 TRNAA16 transfer RNA alanine 16 (anticodon AGC) MT 1 1 100189116 AL358073 1700316;2153202 RH103778;RH69433 trna 34678 2300860 TRNAA17 transfer RNA alanine 17 (anticodon AGC) MT 89445442 89445514 + 100189117 ABBA01030522;AL133238;AMYH01005939 trna 34679 MODEL 1605135 TRNAA2 transfer RNA alanine 2 (anticodon AGC) MT p22.1 26572092 26572164 - 3613974 100009603 ABBA01066558;AL121936;AMYH01016163;M17880 2161617 D6S2354 trna 33253 MODEL 2300821 TRNAA20 transfer RNA alanine 20 (anticodon AGC) MT 26730737 26730809 + 100189156 ABBA01031632;AL591044 trna 34718 MODEL 2300849 TRNAA18 transfer RNA alanine 18 (anticodon AGC) MT 26687485 26687557 + 100189128 AL513548;AMYH01016165 trna 34690 MODEL 2300828 TRNAA19 transfer RNA alanine 19 (anticodon UGC) MT 28757547 28757618 - 100189149 ABBA01038026;AL662890;AL901607;AMYH01016193;BX088523;CR753651 trna 34711 MODEL 2300745 TRNAA23 transfer RNA alanine 23 (anticodon UGC) MT 125406301 125406372 - 100189232 ABBA01060362;AC126309;AMYH01004852 trna 34795 MODEL 2300731 TRNAA24 transfer RNA alanine 24 (anticodon AGC) MT 1 1 100189246 AL596065 trna 34809 2300765 TRNAA22 transfer RNA alanine 22 (anticodon AGC) MT 1 1 100189212 AL591044 trna 34775 2300785 TRNAA21 transfer RNA alanine 21 (anticodon AGC) MT 1 1 100189192 AL591044 trna 34755 2300721 TRNAA25 transfer RNA alanine 25 (anticodon UGC) MT 1 1 100189256 AC109635 trna 34819 1602178 TRMT44 tRNA methyltransferase 44 homolog (S. cerevisiae) The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012] 4 4 4 p16.1 8335839 8371588 + 8507043 8529181 + 8442532 8478282 + 6480464 16861910;15815621;15489334;14702039;12477932;8889548;21659360;21658913;22118674;21906983 152992 H0YDS2;Q8IYL2 ABBA01008699;AC104825;AC105345;AK022953;AK092387;AK093044;AK096417;AMYH01013929;BC035655;CA450523;CB991944;CH471131;NG_032691;NM_152544 AAH35655;BAC04031;EAW82337;NP_689757;Q8IYL2 Hs.566191;Hs.734761 2135027;2135029;2168067;2189181;2189183 G65117;G65118;RH16557;SGC32060;SHGC-33352 C4orf23;FLJ12891;FLJ35725;METTL19;TRM44 OTTHUMP00000217511;OTTHUMP00000217512;methyltransferase like 19;methyltransferase-like protein 19;probable tRNA (uracil-O(2)-)-methyltransferase APPROVED protein-coding ENSG00000155275 26653 08760 614309 REVIEWED 2300669 TRNAA29 transfer RNA alanine 29 (anticodon CGC) MT 26553731 26553802 + 100189308 ABBA01066558;AL121936;AMYH01016163 trna 34875 MODEL 1605134 TRNAA3 transfer RNA alanine 3 (anticodon AGC) MT p23.3 27274082 27274154 + 3613974 100009604 ABBA01045192;AC013472;AMYH01010194;M17881 trna 33254 MODEL 2300665 TRNAA30 transfer RNA alanine 30 (anticodon AGC) MT 58196623 58196695 - 100189312 AL021368;AMYH01016375 trna 34879 MODEL 2300697 TRNAA26 transfer RNA alanine 26 (anticodon UGC) MT 180633868 180633939 + 100189280 ABBA01010095;AC008443;AMYH01015977 trna 34846 MODEL 2300678 TRNAA28 transfer RNA alanine 28 (anticodon AGC) MT 28574933 28575004 + 100189299 ABBA01038023;AL121932;AL671879;AMYH01016190 trna 34865 MODEL 2300650 TRNAA31 transfer RNA alanine 31 (anticodon AGC) MT 1 1 100189327 AL591044 trna 34894 2300682 TRNAA27 transfer RNA alanine 27 (anticodon AGC) MT 28831462 28831533 - 100189295 ABBA01038028;AL662890;AL669978;AMYH01016194;BX119924;CR753651;CR936879 trna 34861 MODEL 2300636 TRNAA33 transfer RNA alanine 33 (anticodon AGC) MT 1 1 100189341 AL591044 trna 34909 2300638 TRNAA32 transfer RNA alanine 32 (anticodon UGC) MT 125424512 125424583 + 100189339 ABBA01060359;AC093719;AMYH01004852 trna 34907 MODEL 2300608 TRNAA37 transfer RNA alanine 37 (anticodon AGC) MT 26682715 26682787 + 100189369 ABBA01133980;AL513548;AL591044;AMYH01016165 2153226;2189671 D6S2242;D6S379 trna 34937 MODEL 2300631 TRNAA34 transfer RNA alanine 34 (anticodon AGC) MT 28763741 28763812 - 100189346 ABBA01038026;AL662890;AL901607;AMYH01016194;BX470194;CR753651 trna 34914 MODEL 2300624 TRNAA35 transfer RNA alanine 35 (anticodon AGC) MT 1 1 100189353 AL021368 2189671 D6S2242 trna 34921 2300619 TRNAA36 transfer RNA alanine 36 (anticodon AGC) MT 26673590 26673662 + 100189358 ABBA01066561;AL513548;AMYH01016165 trna 34926 MODEL 2300579 TRNAA39 transfer RNA alanine 39 (anticodon AGC) MT 67026424 67026496 + 100189398 ABBA01041869;AC084082;AMYH01018772 trna 34966 MODEL 2300582 TRNAA38 transfer RNA alanine 38 (anticodon CGC) MT 28663709 28663780 - 100189395 ABBA01038025;AL390196;AL671879;AMYH01016191 trna 34963 MODEL 2300577 TRNAA40 transfer RNA alanine 40 (anticodon CGC) MT 28641613 28641684 - 100189400 ABBA01038025;AL121932;AL671879;AMYH01016191 1705664 SHGC-83407 trna 34969 MODEL 2300956 TRNAA4 transfer RNA alanine 4 (anticodon CGC) MT 157257281 157257352 + 100189021 ABBA01004831;AC092686;AMYH01011191 trna 34580 MODEL 2300566 TRNAA41 transfer RNA alanine 41 (anticodon AGC) MT 26705606 26705678 + 100189411 AL591044;AMYH01016165 1777638 D4S1500 trna 34980 MODEL 2300554 TRNAA42 transfer RNA alanine 42 (anticodon AGC) MT 1 1 100189423 AL591044 trna 34992 2300448 TRNAA46P transfer RNA alanine 46 (anticodon UGC) pseudogene 6 6 p22.1 30208257 30208328 - 28601859 28601930 - 100189529 ABBA01038024;AL121932;AL671879;AMYH01016190;NG_008587 pseudo 35106 INFERRED 1315256 TRMT5 tRNA methyltransferase 5 tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008] 14 14 14 q23.1 41488423 41498046 - 60507912 60517535 - 61438159 61447782 - 6480464 18029348;15489334;15248782;12477932;10718198;21139048;21906983 57570 G3V494;G3V5X1;Q32P41 AB037814;ABBA01018292;AK293158;AL160236;AMYH01005771;BC029638;BC063551;BC108284;BC136606;BC136607;BQ050607;CH471061;DB448202;NM_020810 AAI08285;AAI36607;AAI36608;BAA92631;BAG56703;EAW80792;NP_065861;Q32P41 Hs.380159 1767148;5038352 ECD09439;RH79203 KIAA1393;MGC111453;TRM5 M1G-methyltransferase;OTTHUMP00000245747;TRM5 tRNA methyltransferase 5 homolog;tRNA (guanine(37)-N1)-methyltransferase;tRNA (guanine-N(1)-)-methyltransferase;tRNA [GM37] methyltransferase;tRNA methyltransferase 5;tRNA methyltransferase 5 homolog;tRNA-N1G37 methyltransferase APPROVED protein-coding ENSG00000126814 23141 17213 611023 VALIDATED 2300944 TRNAA5 transfer RNA alanine 5 (anticodon CGC) MT 28697092 28697163 + 100189033 ABBA01038025;AL390196;AL662890;AL671879;AMYH01016192 1730018 D6S248 trna 34592 MODEL 2300935 TRNAA6 transfer RNA alanine 6 (anticodon AGC) MT p22.1 28779849 28779920 - 100189042 ABBA01038027;AL662890;AL669978;AMYH01016194;BX470194;CR753651 trna 34601 MODEL 2300931 TRNAA7 transfer RNA alanine 7 (anticodon AGC) MT 28626014 28626085 - 100189046 ABBA01038024;AL121932;AL671879;AMYH01016191 trna 34605 MODEL 2300509 TRNAA44P transfer RNA alanine 44 (anticodon AGC) pseudogene 6 6 p22.1 30352853 30352924 - 28746544 28746615 - 100189468 ABBA01038026;AL662890;AL901607;AMYH01016193;BX088523;CR753651;NG_008526 pseudo 35040 INFERRED 2300543 TRNAA43 transfer RNA alanine 43 (anticodon AGC) MT 1 1 100189434 AL596065 trna 35004 2300508 TRNAA45P transfer RNA alanine 45 (anticodon UGC) pseudogene 11 11 q12.2 58124544 58124613 + 60763508 60763577 + 100189469 ABBA01021518;AP003721;NG_008527 pseudo 35041 INFERRED 2300930 TRNAA8 transfer RNA alanine 8 (anticodon AGC) MT 28678366 28678437 + 100189047 ABBA01038025;AL390196;AL671879;AMYH01016191 trna 34606 MODEL 2300917 TRNAA9 transfer RNA alanine 9 (anticodon AGC) MT 58164628 58164700 - 100189060 AL021368;AMYH01016375 trna 34619 MODEL 1343197 TRNAC1 transfer RNA cysteine 1 (anticodon GCA) MT q12 1 1 7183 AC006449 2164499 G38262 TRC trna 12250 2300833 TRNAC10 transfer RNA cysteine 10 (anticodon GCA) MT 149007281 149007352 + 100189144 AACC02000041;ABBA01033629;AC004941;AMYH01018119 trna 34706 MODEL 2300831 TRNAC11 transfer RNA cysteine 11 (anticodon GCA) MT 149243631 149243702 + 100189146 AACC02000041;ABBA01033635;AC004932;AMYH01018122 trna 34708 MODEL 2300800 TRNAC13 transfer RNA cysteine 13 (anticodon GCA) MT 149310156 149310227 - 100189177 AACC02000041;ABBA01033635;AC004932;AMYH01018123 1760337 SHGC-141850 trna 34739 MODEL 2300822 TRNAC12 transfer RNA cysteine 12 (anticodon GCA) MT 80036997 80037069 + 100189155 ABBA01060615;AC026826;AMYH01006846 2164499;2184459 G38131;G38262 trna 34717 MODEL 2300798 TRNAC14 transfer RNA cysteine 14 (anticodon GCA) MT 131947944 131948015 - 100189179 ABBA01059187;AC073021;AMYH01013501 trna 34741 MODEL 2300780 TRNAC16 transfer RNA cysteine 16 (anticodon GCA) MT 124430005 124430076 - 100189197 ABBA01044755;AC093821;AMYH01014497 trna 34760 MODEL 2300736 TRNAC17 transfer RNA cysteine 17 (anticodon GCA) 100189241 AC095034 trna 34804 2300727 TRNAC18 transfer RNA cysteine 18 (anticodon GCA) MT 131950642 131950713 - 100189250 ABBA01059187;AC073021;AMYH01013501 trna 34813 MODEL 2300710 TRNAC19 transfer RNA cysteine 19 (anticodon GCA) MT 149281816 149281887 + 100189267 AACC02000041;ABBA01033635;AC004932;AMYH01018123 trna 34830 MODEL 2300969 TRNAC2 transfer RNA cysteine 2 (anticodon GCA) MT 149112229 149112300 - 100189008 AACC02000041;ABBA01033630;AC004941;AMYH01018120 trna 34566 MODEL 2300688 TRNAC20 transfer RNA cysteine 20 (anticodon GCA) MT 149388272 149388343 - 100189289 AACC02000041;ABBA01033635;AC004897;AMYH01018123 trna 34855 MODEL 2300672 TRNAC21 transfer RNA cysteine 21 (anticodon GCA) MT 149074601 149074672 - 100189305 AACC02000041;ABBA01033629;AC004941;AMYH01018119 trna 34871 MODEL 2300622 TRNAC22 transfer RNA cysteine 22 (anticodon GCA) MT 149295046 149295117 + 100189355 AACC02000041;ABBA01033635;AC004932;AMYH01018123 trna 34923 MODEL 2300620 TRNAC23 transfer RNA cysteine 23 (anticodon GCA) MT 149052766 149052837 - 100189357 AACC02000041;ABBA01033629;AC004941;AMYH01018119 2122962 GDB:1317768 trna 34925 MODEL 2300618 TRNAC24 transfer RNA cysteine 24 (anticodon GCA) MT 73429679 73429750 + 100189359 ABBA01030777;AL442663;AMYH01005841 1665333;2184459 G38131;G38234 trna 34927 MODEL 2300602 TRNAC25 transfer RNA cysteine 25 (anticodon GCA) MT 149361915 149361986 + 100189375 AACC02000041;ABBA01033635;AC004897;AMYH01018123 trna 34943 MODEL 2300601 TRNAC26 transfer RNA cysteine 26 (anticodon GCA) MT 149332778 149332849 + 100189376 AACC02000041;ABBA01033635;AC004932;AMYH01018123 trna 34944 MODEL 2300598 TRNAC27 transfer RNA cysteine 27 (anticodon GCA) MT 149404760 149404831 + 100189379 AACC02000041;ABBA01033635;AC004897;AMYH01018123 trna 34947 MODEL 1322577 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon. [provided by RefSeq, Jul 2008] 22 22 q13 45109962 45131901 + 46731298 46753237 + 1580863;6480464;7240710 19338775;19209188;18391568;16826519;16513084;16341674;15944150;15509579;15461802;14746906;14702039;12477932;10591208;19732863;20877624;21890497;21906983;20301595;20301607;22504945 55687 B4DZN5;O75648;Q2PPL5 AB178028;ABBA01010445;AF448221;AK000212;AK001002;AK055295;AK093743;AK290712;AK295173;AK303020;AL031588;AMYH01012858;AY062123;BC012076;BC027991;BC066593;BC080631;BM755897;BX952612;CH471138;CR456445;DN997542;DQ309998;DQ309999;DQ310000;NG_012173;NM_018006 AAH27991;AAH80631;AAL35970;AAL38183;ABC46690;ABC46691;ABC46692;BAA91462;BAD66875;BAF83401;BAG58183;BAG64147;CAG30331;CAK54474;CAK54773;EAW73422;EAW73423;EAW73424;EAW73425;EAW73426;NP_060476;O75648 Hs.439524 1698800 RH102963 MGC99627;MTO2;MTU1;TRMT;TRMT1;TRNT1 MTO2 homolog;OTTHUMP00000197329;OTTHUMP00000197504;mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase;mitochondrial tRNA-specific 2-thiouridylase 1;trna (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1 APPROVED protein-coding ENSG00000100416 25481 15571 580000;610230;613070 REVIEWED 2300564 TRNAC28 transfer RNA cysteine 28 (anticodon GCA) MT 149028220 149028291 + 100189413 AACC02000041;ABBA01033629;AC004941;AMYH01018119 trna 34982 MODEL 2300948 TRNAC3 transfer RNA cysteine 3 (anticodon GCA) MT 149253802 149253873 + 100189029 AACC02000041;ABBA01033635;AC004932;AMYH01018123 2176166 D7S1395 trna 34588 MODEL 2300563 TRNAC29 transfer RNA cysteine 29 (anticodon GCA) MT 37310744 37310815 - 100189414 ABBA01031883;AC004408;AMYH01008374 trna 34983 MODEL 2300542 TRNAC30 transfer RNA cysteine 30 (anticodon GCA) MT 37017937 37018008 - 100189435 ABBA01031894;AC110749;AMYH01008369 trna 35005 MODEL 2300530 TRNAC31P transfer RNA cysteine 31 (anticodon GCA) pseudogene 3 3 p24.3 17679734 17679806 - 17741392 17741464 - 100189447 ABBA01025120;AC104451;AMYH01013006;NG_008503 pseudo 35017 INFERRED 2300928 TRNAC4 transfer RNA cysteine 4 (anticodon GCA) MT 149072850 149072921 - 100189049 AACC02000041;ABBA01033629;AC004941;AMYH01018119 trna 34608 MODEL 2300469 TRNAC32P transfer RNA cysteine 32 (anticodon ACA) pseudogene 5 5 q33.1 148063958 148064133 + 151988596 151988771 + 100189508 ABBA01026247;AC091969;AMYH01015721;NG_008566 2171522 L28184 pseudo 35083 INFERRED 2300925 TRNAC5 transfer RNA cysteine 5 (anticodon GCA) MT 37023898 37023969 + 100189052 ABBA01031894;AC110749;AMYH01008370 trna 34611 MODEL 2300902 TRNAC6 transfer RNA cysteine 6 (anticodon GCA) MT 149344046 149344117 - 100189075 AACC02000041;ABBA01033635;AC013273;AMYH01018123 trna 34634 MODEL 2300887 TRNAC7 transfer RNA cysteine 7 (anticodon GCA) MT 37025545 37025616 - 100189090 ABBA01031894;AC110749;AMYH01008370 trna 34650 MODEL 2300880 TRNAC8 transfer RNA cysteine 8 (anticodon GCA) MT 149286164 149286235 - 100189097 AACC02000041;ABBA01033635;AC004932;AMYH01018123 1761511 SHGC-145516 trna 34658 MODEL 2300872 TRNAC9 transfer RNA cysteine 9 (anticodon GCA) MT 37309987 37310058 - 100189105 ABBA01031883;AC004408;AMYH01008374 1742965 GDB:217148 trna 34666 MODEL 1352440 TRNAD1 transfer RNA aspartic acid 1 (anticodon GUC) MT q23.3 1 1 7192 AL451067 TRD trna 12251 2300770 TRNAD10 transfer RNA aspartic acid 10 (anticodon GUC) MT 98897281 98897352 + 100189207 ABBA01053288;AC013418;AMYH01004689 trna 34770 MODEL 2300742 TRNAD11 transfer RNA aspartic acid 11 (anticodon GUC) MT 161418033 161418104 - 100189235 AL590385;AMYH01001457 trna 34798 MODEL 2300738 TRNAD12 transfer RNA aspartic acid 12 (anticodon GUC) MT 96429799 96429870 + 100189239 ABBA01053319;AC007298;AMYH01004677 trna 34802 MODEL 2300687 TRNAD13 transfer RNA aspartic acid 13 (anticodon GUC) MT 161425414 161425485 - 100189290 ABBA01136092;AL590385;AMYH01001458 trna 34856 MODEL 2300634 TRNAD15 transfer RNA aspartic acid 15 (anticodon GUC) MT 125411891 125411962 - 100189343 ABBA01060362;AC126309;AMYH01004852 trna 34911 MODEL 2300685 TRNAD14 transfer RNA aspartic acid 14 (anticodon GUC) MT 27471523 27471594 + 100189292 ABBA01037998;AL021918;AMYH01016189 trna 34858 MODEL 2300783 TRNAC15 transfer RNA cysteine 15 (anticodon GCA) MT 149292305 149292376 - 100189194 AACC02000041;ABBA01033635;AC004932;AMYH01018123 trna 34757 MODEL 2300630 TRNAD16 transfer RNA aspartic acid 16 (anticodon GUC) MT 125424193 125424264 - 100189347 ABBA01060359;AC093719;AMYH01004852 trna 34915 MODEL 2300565 TRNAD18 transfer RNA aspartic acid 18 (anticodon GUC) MT 161410615 161410686 - 100189412 ABBA01016588;AL831711;AMYH01001457 trna 34981 MODEL 2300594 TRNAD17 transfer RNA aspartic acid 17 (anticodon GUC) MT 8125556 8125627 - 100189383 ABBA01054904;AC135178;AMYH01008088 trna 34951 MODEL 2300546 TRNAD19 transfer RNA aspartic acid 19 (anticodon GUC) MT 1 1 100189431 AC079406 trna 35000 2300983 TRNAD2 transfer RNA aspartic acid 2 (anticodon GUC) MT 1 1 100188994 AL158825 trna 34551 2300916 TRNAD3 transfer RNA aspartic acid 3 (anticodon GUC) MT 136920340 136920411 - 100189061 ABBA01026379;AC010317 trna 34620 MODEL 2300482 TRNAD20P transfer RNA aspartic acid 20 (anticodon GUC) pseudogene 1 q23.3 161492935 161493006 + 100189495 ABBA01047318;AL590385;AMYH01001458;NG_008553 pseudo 35070 INFERRED 2300857 TRNAD5 transfer RNA aspartic acid 5 (anticodon GUC) MT 161440205 161440276 - 100189120 AL590385;AMYH01001458 trna 34682 MODEL 2300890 TRNAD4 transfer RNA aspartic acid 4 (anticodon GUC) MT 1 1 100189087 AL590385 trna 34647 2300843 TRNAD6 transfer RNA aspartic acid 6 (anticodon GUC) MT 161432824 161432895 - 100189134 AL590385 trna 34696 MODEL 2300827 TRNAD7 transfer RNA aspartic acid 7 (anticodon GUC) MT 1 1 100189150 AC117455 trna 34712 2300819 TRNAD8 transfer RNA aspartic acid 8 (anticodon GUC) MT 27447453 27447524 + 100189158 ABBA01037996;AL021918;AMYH01016188 trna 34720 MODEL 2300923 TRNAE10 transfer RNA glutamic acid 10 (anticodon UUC) MT 1 1 100189054 AC104135 trna 34613 2300777 TRNAD9 transfer RNA aspartic acid 9 (anticodon GUC) MT 27551236 27551307 - 100189200 ABBA01038000;AL021918;AMYH01016189 trna 34763 MODEL 2300914 TRNAE11 transfer RNA glutamic acid 11 (anticodon UUC) MT 26327381 26327452 - 100189063 ABBA01048702;AC100836;AMYH01006487 trna 34622 MODEL 1349868 TRNAE1 transfer RNA glutamic acid 1 (anticodon UUC) 1 MT p36 17071665 17071736 + 17199078 17199149 + 6134271;2912885 7193 AMYH01000293;BX284668;J00309 1735490;1736674;1744315;1744679 D1S2076E;D5S1608E;GDB:451664;GDB:549214 TRE;TRNE trna glutamic acid trna 12265 180640 MODEL 2300909 TRNAE12 transfer RNA glutamic acid 12 (anticodon UUC) MT 1 1 100189068 AL358813 trna 34627 2300864 TRNAE14 transfer RNA glutamic acid 14 (anticodon CUC) MT 1 1 100189113 AL109948 trna 34675 2300886 TRNAE13 transfer RNA glutamic acid 13 (anticodon CUC) MT 161417018 161417089 - 100189091 AL590385;AMYH01001457 trna 34651 MODEL 2300848 TRNAE15 transfer RNA glutamic acid 15 (anticodon UUC) MT 1 1 100189129 AL359400 trna 34691 2300767 TRNAE16 transfer RNA glutamic acid 16 (anticodon UUC) MT 1 1 100189210 AL591493 trna 34773 2300718 TRNAE18 transfer RNA glutamic acid 18 (anticodon CUC) MT 161431809 161431880 - 100189259 AL590385;AMYH01001458 trna 34822 MODEL 2300741 TRNAE17 transfer RNA glutamic acid 17 (anticodon CUC) MT 1 1 100189236 AC068522 trna 34799 2300708 TRNAE19 transfer RNA glutamic acid 19 (anticodon CUC) MT 126101393 126101464 - 100189269 ABBA01025947;AL078594;AMYH01016648 trna 34832 MODEL 2300644 TRNAE20 transfer RNA glutamic acid 20 (anticodon UUC) MT 41634874 41634945 - 100189333 ABBA01021283;AL157877;AMYH01005061 trna 34901 MODEL 2300593 TRNAE21 transfer RNA glutamic acid 21 (anticodon CUC) MT 145399233 145399304 - 100189384 ABBA01005749;AC239799;AL355505;AMYH01001373 trna 34952 MODEL 2300592 TRNAE22 transfer RNA glutamic acid 22 (anticodon CUC) MT 161424398 161424469 - 100189385 ABBA01136092;AL590385;AMYH01001458 trna 34953 MODEL 2300570 TRNAE23 transfer RNA glutamic acid 23 (anticodon UUC) MT 161391883 161391954 - 100189407 ABBA01016588;AL592295;AMYH01001457 trna 34976 MODEL 2300560 TRNAE25 transfer RNA glutamic acid 25 (anticodon CUC) MT 1 1 100189417 AC023421 trna 34986 2300568 TRNAE24 transfer RNA glutamic acid 24 (anticodon CUC) MT 249168447 249168518 + 100189409 ABBA01002094;AL672294;AMYH01001952 trna 34978 MODEL 2300559 TRNAE26 transfer RNA glutamic acid 26 (anticodon UUC) MT 131094701 131094772 - 100189418 ABBA01017957;AC132479;AMYH01011053 2161660;2163287;2175081 A003B44;RH70800;WI-21758 trna 34987 MODEL 2300537 TRNAE27P transfer RNA glutamic acid 27 (anticodon CUC) pseudogene 3 q13.11 103879524 103879595 - 100189440 ABBA01061747;AC078811;AMYH01013368;NG_008496 pseudo 35010 INFERRED 2300527 TRNAE28P transfer RNA glutamic acid 28 (anticodon CUC) pseudogene 8 8 q13.2 66069068 66069142 + 70072340 70072414 + 100189450 ABBA01041917;AF201337;AMYH01018779;NG_008506 pseudo 35020 INFERRED 2300977 TRNAE3 transfer RNA glutamic acid 3 (anticodon UUC) MT 1 1 100189000 AL137157 trna 34557 2300523 TRNAE29P transfer RNA glutamic acid 29 (anticodon UUC) pseudogene 1 q21.2 149278785 149278857 - 100189454 ABBA01154137;AL356957;AMYH01001372;NG_008510 pseudo 35025 INFERRED 2300520 TRNAE30P transfer RNA glutamic acid 30 (anticodon UUC) pseudogene 1 1 q21.2 121320970 121321041 + 149161628 149161699 - 100189457 ABBA01010824;AC239800;AL356957;AMYH01001371;NG_008514 pseudo 35028 INFERRED 2300518 TRNAE31P transfer RNA glutamic acid 31 (anticodon CUC) pseudogene 2 2 q11.1 90534194 90534265 + 96217194 96217265 - 100189459 AC009237;NG_008516 pseudo 35031 INFERRED 2300512 TRNAE32P transfer RNA glutamic acid 32 (anticodon UUC) pseudogene 1 1 q21.2 121039839 121039910 - 147781030 147781101 - 100189465 ABBA01053732;AC245100;AL592207;AMYH01001373;NG_008523 pseudo 35037 INFERRED 2300492 TRNAE34P transfer RNA glutamic acid 34 (anticodon UUC) pseudogene 1 1 q21.1 122434580 122434651 - 146550178 146550249 + 100189485 ABBA01004397;AC241584;AL596177;AMYH01001373;NG_008543 pseudo 35058 INFERRED 2300493 TRNAE33P transfer RNA glutamic acid 33 (anticodon UUC) pseudogene 6 q26 163210014 163210082 - 100189484 ABBA01015120;AL354942;AMYH01016834;NG_008542 pseudo 35057 INFERRED 2300489 TRNAE35P transfer RNA glutamic acid 35 (anticodon CUC) pseudogene 8 p23.1 11793380 11793451 + 100189488 AC107918;NG_008546 pseudo 35061 INFERRED 2300486 TRNAE36P transfer RNA glutamic acid 36 (anticodon CUC) pseudogene 2 2 q24.1 153354956 153355027 - 159738171 159738242 - 100189491 AC064843;NG_008549 pseudo 35065 INFERRED 2300485 TRNAE37P transfer RNA glutamic acid 37 (anticodon CUC) pseudogene X X p11.22 55349937 55350008 - 51306112 51306183 - 100189492 AL390060;NG_008550 pseudo 35067 INFERRED 2300483 TRNAE38P transfer RNA glutamic acid 38 (anticodon CUC) pseudogene 2 2 q23.3 144833503 144833575 + 151219277 151219349 + 100189494 ABBA01004754;AC093738;AMYH01011166;NG_008552 pseudo 35069 INFERRED 2300471 TRNAE39P transfer RNA glutamic acid 39 (anticodon CUC) pseudogene 13 13 q21.1 39412961 39413032 - 58458550 58458621 - 100189506 ABBA01037015;AL355136;AMYH01005149;NG_008564 pseudo 35081 INFERRED 2300970 TRNAE4 transfer RNA glutamic acid 4 (anticodon CUC) MT 1 1 100189007 AL354833 trna 34564 2300459 TRNAE40P transfer RNA glutamic acid 40 (anticodon UUC) pseudogene 2 2 q33.2 197983962 197984032 - 204229131 204229201 - 100189518 ABBA01062611;AC080075;AMYH01011416;NG_008576 pseudo 35093 INFERRED 2300450 TRNAE41P transfer RNA glutamic acid 41 (anticodon CUC) pseudogene 2 2 p13.3 71124178 71124250 - 71273488 71273560 - 100189527 AC007881;NG_008585 pseudo 35104 INFERRED 2300445 TRNAE43P transfer RNA glutamic acid 43 (anticodon CUC) pseudogene 20 20 p12.1 14045848 14045919 - 13970470 13970541 - 100189532 ABBA01053978;AL117333;AMYH01011727;NG_008590 pseudo 35109 INFERRED 2300449 TRNAE42P transfer RNA glutamic acid 42 (anticodon CUC) pseudogene 12 q24.21 114386545 114386617 - 100189528 ABBA01019968;AC090669;AMYH01004765;NG_008586 pseudo 35105 INFERRED 2300953 TRNAE6 transfer RNA glutamic acid 6 (anticodon CUC) MT 28949976 28950047 + 100189024 ABBA01038029;AL662791;AL662865;AL929561;AMYH01016195;BX248109;BX927167;CR759835;CR759957 trna 34583 MODEL 2300960 TRNAE5 transfer RNA glutamic acid 5 (anticodon CUC) MT 161439189 161439260 - 100189017 AL590385;AMYH01001458 trna 34576 MODEL 1352392 TRNAE2 transfer RNA glutamic acid 2 (anticodon UUC) 1 q21-q22 16734361 16734432 - 2251139 7194 AL355149;X54483 TRE2;TREL1 trna glutamic acid-like 1 trna 12267 2300947 TRNAE7 transfer RNA glutamic acid 7 (anticodon UUC) MT 45492062 45492133 - 100189030 ABBA01021226;AL354816;AMYH01005083 trna 34589 MODEL 2300933 TRNAE9 transfer RNA glutamic acid 9 (anticodon CUC) MT 1 1 100189044 AF186996 trna 34603 2300946 TRNAE8 transfer RNA glutamic acid 8 (anticodon UUC) MT 1 1 100189031 AL451067 trna 34590 2300562 TRNAF11 transfer RNA phenylalanine 11 (anticodon GAA) MT 59324970 59325042 - 100189415 ABBA01021502;AMYH01003661;AP003778 trna 34984 MODEL 2300671 TRNAF10 transfer RNA phenylalanine 10 (anticodon GAA) MT 1383361 1383433 - 100189306 ABBA01002641;AC005329;AMYH01009246 trna 34873 MODEL 2300556 TRNAF12 transfer RNA phenylalanine 12 (anticodon GAA) MT 1 1 100189421 AL031229 trna 34990 2300531 TRNAF13P transfer RNA phenylalanine 13 (anticodon GAA) pseudogene 6 6 q14.1 80055285 80055357 - 79668010 79668082 - 100189446 ABBA01040399;AL356776;AMYH01016455;NG_008502 pseudo 35016 INFERRED 2300506 TRNAF14P transfer RNA phenylalanine 14 (anticodon GAA) pseudogene 8 8 q24.13 120459764 120459836 - 124270725 124270797 - 100189471 ABBA01037871;AC068228;AMYH01019003;NG_008529 1709954 SHGC-82245 pseudo 35044 INFERRED 1605133 TRNAF1 transfer RNA phenylalanine 1 (anticodon GAA) 11 MT q12.1 59090429 59090501 - 59333853 59333925 - 3678837 100009605 ABBA01021503;AMYH01003661;AP000442;M17622 trna 33255 MODEL 2300505 TRNAF15P transfer RNA phenylalanine 15 (anticodon GAA) pseudogene 6 6 p22.1 30301246 30301318 - 28694855 28694927 - 100189472 ABBA01038025;AL390196;AL671879;AMYH01016192;NG_008530 1730018;7187264 D6S248 pseudo 35045 INFERRED 2300480 TRNAF16P transfer RNA phenylalanine 16 (anticodon GAA) pseudogene 1 q21.2 149672905 149672976 - 100189497 AC243772;AL358813;AMYH01000981;NG_008555 1679015;2114696 G34711;RH27224 pseudo 35072 INFERRED 2300444 TRNAF17P transfer RNA phenylalanine 17 (anticodon GAA) pseudogene 1 q21.2 149287359 149287430 - 100189533 AC239798;AL356957;AMYH01001371;NG_008591 1679015;2114696 G34711;RH27224 pseudo 35110 INFERRED 1605132 TRNAF2 transfer RNA phenylalanine 2 (anticodon GAA) MT q24.31 125412389 125412461 - 1191278 100009606 ABBA01060362;AC126309;AMYH01004852;K00350 trna 33259 MODEL 2300832 TRNAF4 transfer RNA phenylalanine 4 (anticodon GAA) MT 28732164 28732236 + 100189145 ABBA01038026;AL662890;AL901607;AMYH01016193;BX088523;CR753651 trna 34707 MODEL 2300840 TRNAF3 transfer RNA phenylalanine 3 (anticodon GAA) MT 28758499 28758571 - 100189137 ABBA01038026;AL662890;AL901607;AMYH01016193;BX088523;CR753651 trna 34699 MODEL 2300726 TRNAF6 transfer RNA phenylalanine 6 (anticodon GAA) MT 95201904 95201976 - 100189251 ABBA01027210;AL139318;AMYH01005301 trna 34814 MODEL 2300807 TRNAF5 transfer RNA phenylalanine 5 (anticodon GAA) MT 28775610 28775682 - 100189170 ABBA01038027;AL662890;AL669978;AMYH01016194;BX470194;CR753651 1340655;1760317;7186392 D6S1624;SHGC-170373 trna 34732 MODEL 2300723 TRNAF7 transfer RNA phenylalanine 7 (anticodon GAA) MT 28949449 28949521 - 100189254 ABBA01038029;AL662791;AL662865;AL929561;AMYH01016195;BX248109;BX927167;CR759835;CR759957 trna 34817 MODEL 2300715 TRNAF8 transfer RNA phenylalanine 8 (anticodon GAA) MT 28731374 28731447 - 100189262 ABBA01038026;AL662890;AL901607;AMYH01016193;BX088523;CR753651 trna 34825 MODEL 1347489 TRNAG1 tRNA glycine1 (anticodon CCC) 1 MT p12.3 16745021 16745091 - 16872434 16872504 - 19546379;12787505;2989090 7195 AL355149;AMYH01000281;M11273 2117047 SHGC-74281 TRG1 trna glycine (ccc) 1 APPROVED trna 189911 MODEL 2300684 TRNAF9 transfer RNA phenylalanine 9 (anticodon GAA) MT 28791093 28791166 - 100189293 ABBA01038028;AL662890;AL669978;AMYH01016194;BX470194;CR753651;CR936879 trna 34859 MODEL 2300932 TRNAG10 transfer RNA glycine 10 (anticodon CCC) MT 17053780 17053850 + 100189045 AL021920;AMYH01000282 1725419 RH119105 trna 34604 MODEL 2300896 TRNAG12 transfer RNA glycine 12 (anticodon GCC) MT 1 1 100189081 AL360007 trna 34641 2300913 TRNAG11 transfer RNA glycine 11 (anticodon UCC) MT 145397864 145397935 - 100189064 ABBA01005749;AC239799;AL355505;AMYH01001373 trna 34623 MODEL 2300830 TRNAG14 transfer RNA glycine 14 (anticodon CCC) 100189147 AL137798 trna 34709 2300836 TRNAG13 transfer RNA glycine 13 (anticodon UCC) MT q23.3 161424756 161424827 - 100189141 ABBA01136092;AL590385;AMYH01001458 trna 34703 MODEL 2300789 TRNAG17 transfer RNA glycine 17 (anticodon UCC) MT 161432166 161432237 - 100189188 AL590385;AMYH01001458 trna 34751 MODEL 2300771 TRNAG18 transfer RNA glycine 18 (anticodon UCC) MT 8124866 8124937 + 100189206 ABBA01054904;AC135178;AMYH01008088 1698314 RH102697 trna 34769 MODEL 2300769 TRNAG19 transfer RNA glycine 19 (anticodon GCC) MT 157257659 157257729 - 100189208 ABBA01004831;AC092686;AMYH01011191 trna 34771 MODEL 2300814 TRNAG16 transfer RNA glycine 16 (anticodon GCC) MT 70823410 70823480 + 100189163 ABBA01010649;AC027281;AMYH01007787 trna 34725 MODEL 2300817 TRNAG15 transfer RNA glycine 15 (anticodon GCC) MT 161435258 161435328 + 100189160 AL590385;AMYH01001458 trna 34722 MODEL 2300757 TRNAG20 transfer RNA glycine 20 (anticodon GCC) MT 70822597 70822667 + 100189220 ABBA01010649;AC027281;AMYH01007787 trna 34783 MODEL 1344258 TRNAG2 transfer RNA glycine 2 (anticodon GCC) MT p13.1 8029064 8029134 + 2066114;116197 7196 ABBA01054897;AC129492;AMYH01008088;K00208 TRG2 trna glycine 2 trna 12273 610407 MODEL 2300746 TRNAG22 transfer RNA glycine 22 (anticodon CCC) MT 70476123 70476193 - 100189231 ABBA01075531;AC016700;AMYH01010425 trna 34794 MODEL 2300703 TRNAG25 transfer RNA glycine 25 (anticodon GCC) MT 161450356 161450426 + 100189274 ABBA01047319;AL590385;AMYH01001458 trna 34838 MODEL 2300725 TRNAG23 transfer RNA glycine 23 (anticodon GCC) MT 161420467 161420537 + 100189252 AL590385;AMYH01001458 trna 34815 MODEL 2300747 TRNAG21 transfer RNA glycine 21 (anticodon GCC) MT 161427898 161427968 + 100189230 AL590385;AMYH01001458 trna 34793 MODEL 2300717 TRNAG24 transfer RNA glycine 24 (anticodon UCC) MT 161417375 161417446 - 100189260 AL590385;AMYH01001457 trna 34823 MODEL 2300700 TRNAG26 transfer RNA glycine 26 (anticodon CCC) MT 19764175 19764245 + 100189277 ABBA01054593;AC015726;AMYH01008239 trna 34841 MODEL 2300693 TRNAG27 transfer RNA glycine 27 (anticodon GCC) MT 18827107 18827177 - 100189284 ABBA01057117;AMYH01012148;AP000952 trna 34850 MODEL 2300663 TRNAG29 transfer RNA glycine 29 (anticodon GCC) MT 27870686 27870756 - 100189314 ABBA01038011;AMYH01016189;Z98744 trna 34881 MODEL 2300679 TRNAG28 transfer RNA glycine 28 (anticodon CCC) MT 17188416 17188486 + 100189298 AMYH01000293;BX284668 2117047 SHGC-74281 trna 34864 MODEL 2300611 TRNAG30 transfer RNA glycine 30 (anticodon GCC) MT 161413094 161413164 + 100189366 AL831711 trna 34934 MODEL 1354437 TRNAG3 transfer RNA glycine 3 (anticodon UCC) MT p13.3 4724082 4724153 + 1457046 7197 ABBA01056049;AC005783;AMYH01009344;X64281 TRG3 trna 12274 615303 MODEL 2300597 TRNAG31 transfer RNA glycine 31 (anticodon GCC) MT 161493637 161493707 - 100189380 ABBA01047318;AL590385;AMYH01001458 trna 34948 MODEL 2300519 TRNAG32P transfer RNA glycine 32 (anticodon CCC) pseudogene 2 2 p25.1 11608602 11608673 + 11691827 11691898 + 100189458 ABBA01015652;AC011994;AMYH01010113;NG_008515;NG_029429 pseudo 35030 INFERRED 2300517 TRNAG33P transfer RNA glycine 33 (anticodon UCC) pseudogene 18 q21.31 55345854 55345925 + 100189460 AC027097;NG_008517 pseudo 35032 VALIDATED 2300479 TRNAG34P transfer RNA glycine 34 (anticodon CCC) pseudogene 1 q21.2 149680210 149680280 - 100189498 AC243772;AL358813;AMYH01000981;NG_008556 pseudo 35073 INFERRED 2300466 TRNAG35P transfer RNA glycine 35 (anticodon UCC) pseudogene 18 q21.31 55346177 55346248 + 100189511 AC027097;NG_008569 pseudo 35086 INFERRED 1351037 TRNAG4 transfer RNA glycine 4 (anticodon CCC) MT p13.3 686736 686806 - 64717 ABBA01030360;AL022341;AMYH01006998 TRG4 trna 14183 MODEL 2300491 TRNAG36 transfer RNA glycine 36 (anticodon CCC) 1 p36.13 16874160 16874232 - 100189486 AL355149;AMYH01000281;NG_008544 TRNAV35P APPROVED pseudo 35059 INFERRED 1347977 TRNAG5 transfer RNA glycine 5 (anticodon GCC) MT q22.1 70812114 70812184 - 3019833 7198 ABBA01010649;AC027281;AMYH01007787;M13661 2177340 STS-AA011691 TRG5;TRGL1 trna glycine (gcc)-like 1 trna 12282 MODEL 2300992 TRNAG6 transfer RNA glycine 6 (anticodon GCC) MT q22.1 70812942 70813012 - 100188985 ABBA01010649;AC027281;AMYH01007787 trna 34533 MODEL 2300980 TRNAG7 transfer RNA glycine 7 (anticodon UCC) MT 161409961 161410032 - 100188997 ABBA01016588;AL831711;AMYH01001457 trna 34554 MODEL 2300938 TRNAG9 transfer RNA glycine 9 (anticodon UCC) MT 161439547 161439618 - 100189039 AL590385;AMYH01001458 trna 34598 MODEL 2300966 TRNAG8 transfer RNA glycine 8 (anticodon UCC) MT 161500903 161500974 + 100189011 ABBA01047318;AL590385;AMYH01001458 trna 34570 MODEL 2300643 TRNAH10 transfer RNA histidine 10 (anticodon GUG) MT 146544773 146544844 + 100189334 ABBA01004397;AC241584;AL596177;AMYH01001373 trna 34902 MODEL 2300627 TRNAH11 transfer RNA histidine 11 (anticodon GUG) MT 149155828 149155899 - 100189350 AL356957 trna 34918 MODEL 2300991 TRNAH1 transfer RNA histidine 1 (anticodon GUG) MT 45490804 45490875 - 100188986 ABBA01039186;AC051619;AMYH01006616 trna 34536 MODEL 2300986 TRNAH4 transfer RNA histidine 4 (anticodon GUG) MT q21.1 145396881 145396952 - 100188991 ABBA01005749;AC239799;AL355505;AMYH01001373 trna 34535 MODEL 2300990 TRNAH3 transfer RNA histidine 3 (anticodon GUG) MT 27125906 27125977 + 100188987 ABBA01037988;AL021807;AMYH01016186 trna 34538 MODEL 1605131 TRNAH5 transfer RNA histidine 5 (anticodon GUG) MT 14433938 14434009 - 6188108 100009607 ABBA01065299;AL137017;AMYH01019239;X01553 trna 33260 MODEL 2300912 TRNAH6 transfer RNA histidine 6 (anticodon GUG) MT 45493349 45493420 + 100189065 ABBA01039186;AC051619;AMYH01006617 trna 34624 MODEL 2300803 TRNAH7 transfer RNA histidine 7 (anticodon GUG) MT 147774845 147774916 - 100189174 ABBA01053732;AC245100;AL592207;AMYH01001373 trna 34736 MODEL 2300735 TRNAH8 transfer RNA histidine 8 (anticodon GUG) MT 1 1 100189242 AC069410 trna 34805 2300670 TRNAH9 transfer RNA histidine 9 (anticodon GUG) MT 147753471 147753542 + 100189307 ABBA01053732;AC245100;AL592207;AMYH01001373 trna 34874 MODEL 2301106 TRNAI10 transfer RNA isoleucine 10 (anticodon GAU) 100189594 AC132010 trna 34743 1351110 TRNAI1 transfer RNA isoleucine 1 (anticodon AAU) MT p22.1 27241739 27241812 + 7202 ABBA01037992;AL021808;AMYH01016188 TRI trna 12300 MODEL 2300728 TRNAI12 transfer RNA isoleucine 12 (anticodon AAU) MT 58149254 58149327 + 100189249 AL596065;AMYH01016375 trna 34812 MODEL 2300764 TRNAI11 transfer RNA isoleucine 11 (anticodon AAU) MT 27242990 27243063 - 100189213 ABBA01037992;AL021808;AMYH01016188 trna 34776 MODEL 2300712 TRNAI13 transfer RNA isoleucine 13 (anticodon UAU) MT 43037676 43037768 + 100189265 ABBA01075078;AC098824;AMYH01010292 trna 34828 MODEL 2301105 TRNAI14 transfer RNA isoleucine 14 (anticodon GAU) 100189595 AC132010 trna 34837 2300702 TRNAI15 transfer RNA isoleucine 15 (anticodon AAU) MT 102783429 102783502 + 100189275 ABBA01048485;AL352978;AMYH01006031 trna 34839 MODEL 2301104 TRNAI16 transfer RNA isoleucine 16 (anticodon GAU) 100189596 AC132010 trna 34872 2300667 TRNAI17 transfer RNA isoleucine 17 (anticodon AAU) MT 27205350 27205423 - 100189310 ABBA01037991;AL021808;AMYH01016188 2168229 D6S2342 trna 34877 MODEL 2300653 TRNAI18 transfer RNA isoleucine 18 (anticodon UAU) MT 39902808 39902900 - 100189324 ABBA01040729;AC011500;AMYH01009794 trna 34891 MODEL 2301103 TRNAI19 transfer RNA isoleucine 19 (anticodon GAU) 100189597 AC079036 trna 34899 2300949 TRNAI2 transfer RNA isoleucine 2 (anticodon UAU) MT 26988125 26988218 + 100189028 ABBA01037986;AL590062;AMYH01016186 trna 34587 MODEL 2300641 TRNAI20 transfer RNA isoleucine 20 (anticodon AAU) MT 27144994 27145067 - 100189336 ABBA01037988;AL121934;AMYH01016188 2169797 D6S2344 trna 34904 MODEL 2300629 TRNAI21 transfer RNA isoleucine 21 (anticodon UAU) MT 28505367 28505460 + 100189348 ABBA01038021;AL049543;AMYH01016190 trna 34916 MODEL 1604623 TRMT6 tRNA methyltransferase 6 homolog (S. cerevisiae) This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 20 20 20 p12.3 5990095 6002785 - 5866486 5879173 - 5918486 5931173 - 6480464 16043508;15489334;14702039;12477932;11780052;10810093;10574461;19448621;22863883;22939629;21139048;21890473;21906983;21145461;21988832;22505724 51605 B4DUV6;Q9UJA5 AB032979;ABBA01053893;AF132943;AI291549;AK000613;AK300812;AK308648;AK309205;AL035461;AL556917;AMYH01011696;BC001262;CH471133;DC348968;NM_001281467;NM_015939 AAD27718;AAH01262;BAA86467;BAG62468;EAX10406;EAX10407;NP_001268396;NP_057023;Q9UJA5 Hs.128791 2153435 SHGC-33687 CGI-09;GCD10;Gcd10p;MGC5029 OTTHUMP00000030210;tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6;tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6;tRNA(m1A58)-methyltransferase subunit TRM6;tRNA(m1A58)MTase subunit TRM6 APPROVED protein-coding ENSG00000089195 20900 13027 REVIEWED 2300605 TRNAI22 transfer RNA isoleucine 22 (anticodon AAU) MT 26745255 26745328 - 100189372 ABBA01031632;AL591044 1787516 SHGC-155439 trna 34940 MODEL 2300590 TRNAI23 transfer RNA isoleucine 23 (anticodon AAU) MT 8090911 8090984 + 100189387 ABBA01054901;AC129492;AMYH01008088 trna 34955 MODEL 2300576 TRNAI25 transfer RNA isoleucine 25 (anticodon AAU) MT 26780832 26780905 + 100189401 AL591044 trna 34970 MODEL 2300584 TRNAI24 transfer RNA isoleucine 24 (anticodon AAU) MT 8130309 8130382 - 100189393 ABBA01054904;AC135178;AMYH01008088 1690087;2123766;2145580 D17S1556;D17S1773;RH18359 trna 34961 MODEL 2301102 TRNAI27 transfer RNA isoleucine 27 (anticodon GAU) 100189598 AC079036 trna 35002 2300550 TRNAI26 transfer RNA isoleucine 26 (anticodon GAU) MT 3833271 3833344 - 100189427 BX890604 trna 34996 MODEL 2300503 TRNAI29P transfer RNA isoleucine 29 (anticodon AAU) pseudogene 12 12 q24.33 129328876 129328950 + 129716198 129716272 + 100189474 ABBA01019781;AC117501;AMYH01004870;NG_008532 pseudo 35047 INFERRED 2300927 TRNAI3 transfer RNA isoleucine 3 (anticodon GAU) MT 3794842 3794915 - 100189050 BX890604 trna 34609 MODEL 2300515 TRNAI28P transfer RNA isoleucine 28 (anticodon AAU) pseudogene 6 6 p22.1 28857868 28857941 + 27251864 27251937 + 100189462 ABBA01037992;AL021808;AMYH01016188;NG_008519 2189669;7187247 D6S2219 pseudo 35034 INFERRED 2300496 TRNAI30P transfer RNA isoleucine 30 (anticodon AAU) pseudogene 20 20 q13.2 47923003 47923080 - 51218338 51218415 - 100189481 ABBA01052835;AL049736;AMYH01011990;NG_008539 pseudo 35054 INFERRED 2300906 TRNAI4 transfer RNA isoleucine 4 (anticodon AAU) MT 27655967 27656040 + 100189071 ABBA01038005;AL009179;AMYH01016189 trna 34630 MODEL 2300882 TRNAI5 transfer RNA isoleucine 5 (anticodon AAU) MT 27636362 27636435 + 100189095 ABBA01038004;AL031229;AMYH01016189 trna 34656 MODEL 2300846 TRNAI6 transfer RNA isoleucine 6 (anticodon UAU) MT 27599200 27599293 + 100189131 ABBA01038002;AL031229;AMYH01016189 trna 34693 MODEL 2300845 TRNAI7 transfer RNA isoleucine 7 (anticodon GAU) MT 3756418 3756491 - 100189132 ABBA01044359;AMYH01022022;BX890604 trna 34694 MODEL 2300829 TRNAI8 transfer RNA isoleucine 8 (anticodon AAU) MT 1 1 100189148 AL591044 trna 34710 2300824 TRNAI9 transfer RNA isoleucine 9 (anticodon AAU) MT 26554350 26554423 + 100189153 ABBA01066558;AL121936;AMYH01016163 trna 34715 MODEL 1351507 TRNAK1 transfer RNA lysine 1 (anticodon UUU) MT p13.1 8022473 8022545 + 6296772;3678837;2066114 7206 ABBA01054897;AC129492;AMYH01008088;K01797 TRK1 trna lysine 1 trna 12314 189918 MODEL 2300901 TRNAK10 transfer RNA lysine 10 (anticodon CUU) 100189076 AL590440 trna 34636 2300873 TRNAK12 transfer RNA lysine 12 (anticodon UUU) MT 1 1 100189104 AC009509 trna 34665 2300870 TRNAK13 transfer RNA lysine 13 (anticodon CUU) MT 58706613 58706685 - 100189107 ABBA01018253;AL132989;AMYH01005757 trna 34668 MODEL 2300879 TRNAK11 transfer RNA lysine 11 (anticodon UUU) MT 205443271 205443343 + 100189098 ABBA01027415;AC098936;AMYH01001670 1762845 SHGC-146616 trna 34659 MODEL 2300867 TRNAK14 transfer RNA lysine 14 (anticodon CUU) MT 26556774 26556846 + 100189110 ABBA01066558;AL121936;AMYH01016163 2135646 D6S2357 trna 34671 MODEL 2300855 TRNAK16 transfer RNA lysine 16 (anticodon UUU) MT 204475655 204475727 + 100189122 ABBA01027442;AL606489;AMYH01001663 trna 34684 MODEL 2300858 TRNAK15 transfer RNA lysine 15 (anticodon CUU) MT 3207406 3207478 - 100189119 ABBA01026729;AC108134;AMYH01007089 trna 34681 MODEL 2300852 TRNAK17 transfer RNA lysine 17 (anticodon UUU) MT 73512216 73512288 - 100189125 ABBA01005311;AC009104;AMYH01007803 trna 34687 MODEL 2300797 TRNAK18 transfer RNA lysine 18 (anticodon CUU) MT 26165128 26165200 - 100189180 ABBA01066648;AC093294 trna 34742 MODEL 2300795 TRNAK19 transfer RNA lysine 19 (anticodon UUU) MT 27302769 27302841 - 100189182 ABBA01037993;AL021808;AMYH01016188 trna 34745 MODEL 2300779 TRNAK20 transfer RNA lysine 20 (anticodon CUU) MT 145395522 145395594 - 100189198 ABBA01005750;AC239799;AL355505;AMYH01001373 trna 34761 MODEL 1642402 TRNAK2 transfer RNA lysine 2 (anticodon CUU) MT q35.3 180648979 180649051 - 2766931 790966 ABBA01010096;AC008443;AMYH01015977;M33940 TRK2 trna 33199 612996 MODEL 2300989 TRNAH2 transfer RNA histidine 2 (anticodon GUG) MT 45492611 45492682 - 100188988 ABBA01039186;AC051619;AMYH01006617 trna 34537 MODEL 2300768 TRNAK21 transfer RNA lysine 21 (anticodon CUU) MT 3230555 3230627 - 100189209 ABBA01026729;AJ003147;AMYH01007089 trna 34772 MODEL 2300739 TRNAK23 transfer RNA lysine 23 (anticodon UUU) MT 59323902 59323974 + 100189238 ABBA01021502;AMYH01003661;AP003778 trna 34801 MODEL 2300743 TRNAK22 transfer RNA lysine 22 (anticodon UUU) MT 28918806 28918878 + 100189234 ABBA01038029;AL662865;AL662871;AL954865;AMYH01016195;BX248109;BX927167;CR936883 trna 34797 MODEL 2300695 TRNAK26 transfer RNA lysine 26 (anticodon CUU) MT 3225692 3225764 + 100189282 ABBA01026729;AJ003147;AMYH01007089 trna 34848 MODEL 2300733 TRNAK24 transfer RNA lysine 24 (anticodon CUU) MT 3186582 3186654 + 100189244 ABBA01026729;AC108134 trna 34807 MODEL 2300434 TRNAK25 transfer RNA lysine 25 (anticodon UUU) 100189588 AC144526 trna 34843 2300683 TRNAK27 transfer RNA lysine 27 (anticodon UUU) MT 122430655 122430727 + 100189294 AMYH01004094;AP003042 trna 34860 MODEL 2300645 TRNAK29 transfer RNA lysine 29 (anticodon UUU) MT 28715521 28715593 + 100189332 ABBA01038026;AL662890;AL671879;AMYH01016193;BX088523;CR753651 trna 34900 MODEL 2300666 TRNAK28 transfer RNA lysine 28 (anticodon CUU) MT 1 1 100189311 AC011460 trna 34878 2300610 TRNAK30 transfer RNA lysine 30 (anticodon CUU) MT 1 1 100189367 AD000090 trna 34935 1625452 TRNAK3 transfer RNA lysine 3 (anticodon UUU) MT q12.1 59327808 59327880 - 17012271;3678837 100049613 ABBA01021502;AMYH01003661;AP000442;M17621 trna 33256 MODEL 2300587 TRNAK31 transfer RNA lysine 31 (anticodon UUU) MT 27543846 27543918 + 100189390 ABBA01038000;AL021918;AMYH01016189 trna 34958 MODEL 2300578 TRNAK33 transfer RNA lysine 33 (anticodon CUU) MT 180634755 180634827 + 100189399 ABBA01010095;AC008443;AMYH01015977 trna 34967 MODEL 2300585 TRNAK32 transfer RNA lysine 32 (anticodon UUU) MT 1 1 100189392 AC104523 trna 34960 2300552 TRNAK34 transfer RNA lysine 34 (anticodon UUU) MT 204476158 204476230 - 100189425 ABBA01027442;AL606489;AMYH01001663 trna 34994 MODEL 2300538 TRNAK35P transfer RNA lysine 35 (anticodon CUU) pseudogene 1 1 q24.1 138671311 138671383 + 165566150 165566222 + 100189439 AL356441;NG_008599 pseudo 35009 INFERRED 2300513 TRNAK36P transfer RNA lysine 36 (anticodon CUU) pseudogene 1 1 p34.3 38252031 38252103 + 39970195 39970267 + 100189464 AL365277;NG_008522 pseudo 35036 INFERRED 2300510 TRNAK37P transfer RNA lysine 37 (anticodon CUU) pseudogene 16 16 p13.3 3451822 3451894 + 3246153 3246225 + 100189467 ABBA01026730;AJ003147;AMYH01007089;NG_008525 pseudo 35039 INFERRED 2300473 TRNAK39P transfer RNA lysine 39 (anticodon UUU) pseudogene 2 2 q36.1 217952109 217952181 - 224186315 224186387 - 100189504 ABBA01023799;AC068035;AMYH01011523;NG_008562 pseudo 35079 INFERRED 2300982 TRNAK4 transfer RNA lysine 4 (anticodon CUU) MT 43669271 43669343 - 100188995 ABBA01022325;AC012569;AMYH01008971 1793330 PMC20944P1 trna 34552 MODEL 2300463 TRNAK40P transfer RNA lysine 40 (anticodon UUU) pseudogene 14 14 q24.3 54091622 54091694 - 74055529 74055601 - 100189514 AC005225;NG_008572 1646162 G38216 pseudo 35089 INFERRED 2300458 TRNAK41P transfer RNA lysine 41 (anticodon UUU) pseudogene 8 8 p22 17086167 17086236 + 18120203 18120272 + 100189519 ABBA01021574;AC124242;AMYH01018550;NG_008577 pseudo 35094 INFERRED 2300441 TRNAK42P transfer RNA lysine 42 (anticodon CUU) pseudogene 15 15 q24.3 53600975 53601048 - 76674765 76674838 - 100189536 ABBA01060551;AC090179;AMYH01006821;NG_008594 pseudo 35113 INFERRED 2300438 TRNAK43P transfer RNA lysine 43 (anticodon UUU) pseudogene 6 6 p22.1 30267379 30267452 - 28660987 28661060 - 100189539 ABBA01038025;AL390196;AL671879;AMYH01016191;NG_008597 pseudo 35116 INFERRED 2300978 TRNAK5 transfer RNA lysine 5 (anticodon CUU) MT 1 1 100188999 AC087377 trna 34556 2300964 TRNAK6 transfer RNA lysine 6 (anticodon CUU) MT 79152904 79152976 + 100189013 ABBA01060597;AC103975;AMYH01006841 trna 34572 MODEL 2300926 TRNAK7 transfer RNA lysine 7 (anticodon UUU) MT 1 1 100189051 AC010619 trna 34610 2300915 TRNAK9 transfer RNA lysine 9 (anticodon CUU) MT 3241501 3241573 + 100189062 ABBA01026730;AJ003147;AMYH01007089 trna 34621 MODEL 2300924 TRNAK8 transfer RNA lysine 8 (anticodon UUU) MT 27559593 27559665 - 100189053 ABBA01038000;AL021918;AMYH01016189 trna 34612 MODEL 2300497 TRNAK38P transfer RNA lysine 38 (anticodon UUU) pseudogene 19 19 q13.2 38548299 38548371 - 41748142 41748214 - 100189480 ABBA01040803;AC011510;AMYH01009819;NG_008538 pseudo 35053 INFERRED 1349810 TRNAL1 transfer RNA leucine 1 (anticodon AAG) MT q11.2 21078291 21078372 + 17656376;1899574;1686015 7207 ABBA01061233;AL163195;AMYH01005590;M63633 TRL1;TRNP1 transfer RNA leucine 1 (anticodon CUU);trna leucine 1 trna 12315 189932 MODEL 2300910 TRNAL10 transfer RNA leucine 10 (anticodon UAA) MT 27198334 27198416 - 100189067 ABBA01037991;AL021808;AMYH01016188 trna 34626 MODEL 2300847 TRNAL13 transfer RNA leucine 13 (anticodon CAG) MT 57333863 57333945 + 100189130 ABBA01025269;AC108081;AMYH01007697 trna 34692 MODEL 2300888 TRNAL11 transfer RNA leucine 11 (anticodon CAG) MT 57334392 57334474 - 100189089 ABBA01025269;AC108081;AMYH01007697 trna 34649 MODEL 2300859 TRNAL12 transfer RNA leucine 12 (anticodon AAG) MT 28446400 28446481 - 100189118 ABBA01038019;AMYH01016190;Z98745 trna 34680 MODEL 2300838 TRNAL14 transfer RNA leucine 14 (anticodon CAG) MT 161440913 161440995 + 100189139 AL590385;AMYH01001458 trna 34701 MODEL 2300826 TRNAL15 transfer RNA leucine 15 (anticodon UAG) MT 21093529 21093610 + 100189151 ABBA01061233;AL163195;AMYH01005590 trna 34713 MODEL 2300813 TRNAL16 transfer RNA leucine 16 (anticodon UAA) MT 27688898 27688980 - 100189164 ABBA01038008;AL009179;AMYH01016189 trna 34726 MODEL 2300808 TRNAL17 transfer RNA leucine 17 (anticodon AAG) MT 28956779 28956860 + 100189169 ABBA01038029;AL662791;AL662865;AL929561;AMYH01016195;BX248109;BX927167;CR759835;CR759957 trna 34731 MODEL 2300802 TRNAL18 transfer RNA leucine 18 (anticodon UAA) MT 1 1 100189175 AL158051 trna 34737 2300778 TRNAL19 transfer RNA leucine 19 (anticodon CAA) MT 249168054 249168159 + 100189199 ABBA01002094;AL672294;AMYH01001952 trna 34762 MODEL 1352300 TRNAL2 transfer RNA leucine 2 (anticodon UAG) MT p13.1 8023632 8023713 - 12086967;6296772;3637777;2066114 7208 ABBA01054897;AC129492;AMYH01008088;K01797;X04117 2139449 humtgkql TRL2 trna leucine 2 trna 12316 189920 MODEL 2300773 TRNAL21 transfer RNA leucine 21 (anticodon CAG) MT 1 1 100189204 AC068657 trna 34767 2300775 TRNAL20 transfer RNA leucine 20 (anticodon AAG) MT 28911399 28911480 - 100189202 ABBA01038029;AL662865;AL662871;AL954865;AMYH01016195;BX248109;BX927167;CR936883 2128410;2186434 RH46736;WI-17133 trna 34765 MODEL 2300737 TRNAL23 transfer RNA leucine 23 (anticodon UAA) MT 59319228 59319310 + 100189240 ABBA01021502;AMYH01003661;AP003778 trna 34803 MODEL 2300740 TRNAL22 transfer RNA leucine 22 (anticodon CAA) MT 28908830 28908934 + 100189237 ABBA01038029;AL662865;AL662871;AL954865;AMYH01016195;BX248109;BX927167;CR936883 trna 34800 MODEL 2300704 TRNAL24 transfer RNA leucine 24 (anticodon AAG) MT 180528840 180528921 + 100189273 AC008620 trna 34836 MODEL 2301107 TRNAL25 transfer RNA leucine 25 (anticodon CAA) 100189593 AL662871 trna 34844 2300689 TRNAL26 transfer RNA leucine 26 (anticodon CAG) MT 26521436 26521518 + 100189288 ABBA01066557;AL121936;AMYH01016163 trna 34854 MODEL 2300664 TRNAL29 transfer RNA leucine 29 (anticodon UAA) MT 144537684 144537766 + 100189313 ABBA01025740;AL135917;AMYH01016723 trna 34880 MODEL 2300676 TRNAL28 transfer RNA leucine 28 (anticodon CAA) MT 27573417 27573524 - 100189301 ABBA01038000;AL021918;AMYH01016189 trna 34867 MODEL 2300686 TRNAL27 transfer RNA leucine 27 (anticodon AAG) MT 22308461 22308542 + 100189291 ABBA01003842;AC009034;AMYH01007348 trna 34857 MODEL 2300652 TRNAL31 transfer RNA leucine 31 (anticodon UAA) MT 1 1 100189325 AC097526 trna 34892 2300974 TRNAL3 transfer RNA leucine 3 (anticodon CAA) MT 161581736 161581819 - 100189003 ABBA01005656;AL451067;AMYH01001463 trna 34560 MODEL 2300661 TRNAL30 transfer RNA leucine 30 (anticodon CAG) MT 161426122 161426204 + 100189316 AL590385;AMYH01001458 trna 34883 MODEL 2300649 TRNAL32 transfer RNA leucine 32 (anticodon AAG) MT 180614701 180614782 + 100189328 ABBA01010095;AC008443;AMYH01015977 trna 34895 MODEL 2300628 TRNAL33 transfer RNA leucine 33 (anticodon AAG) MT 1 1 100189349 AC069410 trna 34917 2300615 TRNAL34 transfer RNA leucine 34 (anticodon AAG) MT 180524474 180524555 - 100189362 ABBA01010090;AC008620 trna 34930 MODEL 2300613 TRNAL35 transfer RNA leucine 35 (anticodon CAG) MT 161433532 161433614 + 100189364 AL590385;AMYH01001458 trna 34932 MODEL 2300607 TRNAL36 transfer RNA leucine 36 (anticodon CAA) MT 9296790 9296863 + 100189370 ABBA01061197;AC055845;AMYH01003380 trna 34938 MODEL 2300600 TRNAL37 transfer RNA leucine 37 (anticodon UAA) MT p11.21 1 1 100189377 AL158819 trna 34945 2300548 TRNAL39 transfer RNA leucine 39 (anticodon AAG) MT 1 1 100189429 AL354889 trna 34998 2300583 TRNAL38 transfer RNA leucine 38 (anticodon CAG) MT 161411323 161411405 + 100189394 ABBA01016588;AL831711;AMYH01001457 trna 34962 MODEL 2300973 TRNAL4 transfer RNA leucine 4 (anticodon AAG) MT 180601044 180601125 - 100189004 ABBA01010093;AC008620;AMYH01015977 trna 34561 MODEL 2300536 TRNAL40P transfer RNA leucine 40 (anticodon UAG) pseudogene 14 14 q11.2 1006050 1006131 - 21145178 21145259 - 100189441 ABBA01061234;AL163636;AMYH01005590;NG_008497 pseudo 35011 INFERRED 2300521 TRNAL41P transfer RNA leucine 41 (anticodon UAA) pseudogene 8 8 q11.1 43724331 43724405 - 47740038 47740112 - 100189456 ABBA01018439;AC021451;AMYH01018700;NG_008513 pseudo 35027 INFERRED 2300511 TRNAL42P transfer RNA leucine 42 (anticodon UAA) pseudogene 20 20 q13.31 52673669 52673743 - 55933428 55933502 - 100189466 ABBA01052924;AL135939;AMYH01012009;NG_008524 pseudo 35038 INFERRED 2300478 TRNAL44P transfer RNA leucine 44 (anticodon CAA) pseudogene 10 10 p11.21 34356766 34356833 - 34591416 34591483 - 100189499 AL390766;NG_008557 pseudo 35074 INFERRED 2300484 TRNAL43P transfer RNA leucine 43 (anticodon AAG) pseudogene 5 5 q35.3 176218967 176219048 - 180591564 180591645 - 100189493 ABBA01010093;AC008620;AMYH01015977;NG_008551 pseudo 35068 INFERRED 2300457 TRNAL45P transfer RNA leucine 45 (anticodon UAA) pseudogene 1 1 q43 211356448 211356522 - 238106956 238107030 - 100189520 ABBA01033187;AL590396;AMYH01001865;NG_008578;NG_008799 pseudo 35095 INFERRED 2300455 TRNAL46P transfer RNA leucine 46 (anticodon UAA) pseudogene 2 q14.1 117781417 117781491 + 100189522 AC012365;AMYH01010981;NG_008580 pseudo 35097 INFERRED 2300968 TRNAL5 transfer RNA leucine 5 (anticodon CAG) MT 161418741 161418823 + 100189009 ABBA01136092;AL590385;AMYH01001457 trna 34568 MODEL 1354339 TRNAL47P transfer RNA leucine 47 (anticodon AAG) pseudogene 6 6 6 p22.1 30052777 30052858 + 28554329 28554410 + 28446350 28446431 + 8293999 7209 ABBA01038019;AMYH01016190;L15362;NG_001204;Z98745 TRLP1 APPROVED pseudo 12317 INFERRED 2300945 TRNAL7 transfer RNA leucine 7 (anticodon UAG) MT 22207032 22207113 - 100189032 ABBA01003845;AC009019;AMYH01007355 trna 34591 MODEL 2300959 TRNAL6 transfer RNA leucine 6 (anticodon CAG) MT 161500132 161500214 - 100189018 ABBA01047318;AL590385;AMYH01001458 trna 34577 MODEL 2300939 TRNAL8 transfer RNA leucine 8 (anticodon CAA) MT 27570348 27570454 - 100189038 ABBA01038000;AL021918;AMYH01016189 trna 34597 MODEL 2300934 TRNAL9 transfer RNA leucine 9 (anticodon AAG) MT 1 1 100189043 AC016907 trna 34602 2300791 TRNAM10 transfer RNA methionine 10 (anticodon CAU) MT 1 1 100189186 AL391834 trna 34749 1345406 TRNAM1 transfer RNA methionine 1 (anticodon CAU) MT p22.1 26286754 26286825 + 8661117;6308668;6261953 7210 ABBA01066554;AL021917;AMYH01016162;J00311;Z69292 1645706;2183186 AL031212;RH70852 RNTMI1;RNTMI2;RNTMT1;TRM1;TRM2;TRMI2;TRNAMI2 trna methionine 1 trna 12318 180621 MODEL 2300776 TRNAM11 transfer RNA methionine 11 (anticodon CAU) MT 124169470 124169542 - 100189201 ABBA01037866;AC068228;AMYH01019003 trna 34764 MODEL 2300761 TRNAM12 transfer RNA methionine 12 (anticodon CAU) MT 28912352 28912424 + 100189216 ABBA01038029;AL662865;AL662871;AL954865;AMYH01016195;BX248109;BX927167;CR936883 2128410;2186434 RH46736;WI-17133 trna 34779 MODEL 2300751 TRNAM13 transfer RNA methionine 13 (anticodon CAU) MT 87417628 87417700 - 100189226 ABBA01034328;AC010531;AMYH01007898 trna 34789 MODEL 2300722 TRNAM14 transfer RNA methionine 14 (anticodon CAU) MT 80452597 80452668 - 100189255 ABBA01019682;AC124287;AMYH01008733 trna 34818 MODEL 2300680 TRNAM15 transfer RNA methionine 15 (anticodon CAU) MT 27560600 27560671 - 100189297 ABBA01038000;AL021918;AMYH01016189 trna 34863 MODEL 2300674 TRNAM16 transfer RNA methionine 16 (anticodon CAU) MT 26701712 26701784 + 100189303 AL591044;AMYH01016165 trna 34869 MODEL 2300632 TRNAM18 transfer RNA methionine 18 (anticodon CAU) MT 27300764 27300835 - 100189345 ABBA01037993;AL021808;AMYH01016188 2133278 D6S2332 trna 34913 MODEL 2300623 TRNAM19 transfer RNA methionine 19 (anticodon CAU) MT 26758550 26758622 - 100189354 ABBA01031631;AL591044;AMYH01016178 trna 34922 MODEL 2300662 TRNAM17 transfer RNA methionine 17 (anticodon CAU) MT 27870271 27870342 - 100189315 ABBA01038011;AMYH01016189;Z98744 trna 34882 MODEL 1346477 TRNAM2 transfer RNA methionine 2 (anticodon CAU) Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009] MT p22.1 27745664 27745735 + 6923137;6308668;6261953 7212 ABBA01038011;AL009179;AMYH01016189;J00310 2156415 RH71009 RNTMI;RNTMI2;TRM1;TRMI1;TRNAMI1;TRNAMI2 transfer RNA methionine initiator 1 (anticodon CAU);trna methionine initiator 1 APPROVED trna 12322 180620 MODEL 2300962 TRNAM3 transfer RNA methionine 3 (anticodon CAU) MT 153643726 153643797 + 100189015 ABBA01049443;AL713889;AMYH01001405 trna 34574 MODEL 2300586 TRNAM20 transfer RNA methionine 20 (anticodon CAU) MT 26766444 26766516 + 100189391 AL591044 trna 34959 MODEL 2300937 TRNAM4 transfer RNA methionine 4 (anticodon CAU) MT 26330529 26330600 - 100189040 ABBA01066554;AL021917;AMYH01016162 trna 34599 MODEL 2300883 TRNAM6 transfer RNA methionine 6 (anticodon CAU) MT 26313352 26313423 - 100189094 ABBA01066554;AL021917;AMYH01016162 2150664 D6S2292 trna 34655 MODEL 2300842 TRNAM9 transfer RNA methionine 9 (anticodon CAU) MT 71460396 71460468 + 100189135 ABBA01016777;AC010547;AMYH01007787 trna 34697 MODEL 2300892 TRNAM5 transfer RNA methionine 5 (anticodon CAU) MT 58168492 58168564 - 100189085 AL021368;AMYH01016375 trna 34645 MODEL 2300877 TRNAM7 transfer RNA methionine 7 (anticodon CAU) MT 1 1 100189100 AL591044 trna 34661 2300866 TRNAM8 transfer RNA methionine 8 (anticodon CAU) MT 28921042 28921114 - 100189111 ABBA01038029;AL662865;AL662871;AL954865;AMYH01016195;BX248109;BX927167;CR936883 trna 34673 MODEL 1349805 TRNAMI2 transfer RNA methionine initiator 2 (anticodon CAU) p23-q12 6308668;6261953 7213 J00311 RNTMI2;TRM2;TRMI2 trna methionine initiator 2 trna 12323 2300898 TRNAN10 transfer RNA asparagine 10 (anticodon GUU) MT 1 1 100189079 AL592284 trna 34639 735319 TRNAN1 transfer RNA asparagine 1 (anticodon GUU) The saturation hybridization studies of Hatlen and Attardi (1971) [PubMed 4929578] indicated a copy number of tRNA genes of 1,300 for the haploid human genome--an average of 65 gene copies for each tRNA species. These genes tend to be clustered, an arrangement that would facilitate the exchange of sequence information and enable them to evolve together.[supplied by OMIM, Sep 2009] MT p36.1 148248115 148248188 + 2757033;6783075;4929578;9632798;10202161 7214 AC245014;AMYH01001373;BX546486;K00167 RNN;TRN;TRN1 asp-, gly-, glu- and leu-trnas cluster APPROVED trna 12324 189880 MODEL 2300894 TRNAN11 transfer RNA asparagine 11 (anticodon GUU) MT 22518438 22518511 - 100189083 ABBA01034483;AL157831;AMYH01002179 trna 34643 MODEL 2300881 TRNAN12 transfer RNA asparagine 12 (anticodon GUU) MT 1 1 100189096 AL451067 trna 34657 2300869 TRNAN13 transfer RNA asparagine 13 (anticodon GUU) MT 144301611 144301684 + 100189108 AC243772;AMYH01000981;BX248398 trna 34669 MODEL 2300850 TRNAN15 transfer RNA asparagine 15 (anticodon GUU) MT 148760356 148760429 - 100189127 AL592492;FP700107 trna 34689 MODEL 2300851 TRNAN14 transfer RNA asparagine 14 (anticodon GUU) MT 161510031 161510104 + 100189126 ABBA01047318;AL590385;AMYH01001458 trna 34688 MODEL 2300812 TRNAN16 transfer RNA asparagine 16 (anticodon GUU) MT 1 1 100189165 AL592207 trna 34727 2300801 TRNAN17 transfer RNA asparagine 17 (anticodon GUU) MT 36908034 36908107 - 100189176 ABBA01031902;AC006449;AMYH01008367 trna 34738 MODEL 2300794 TRNAN18 transfer RNA asparagine 18 (anticodon GUU) MT 17201958 17202031 + 100189183 ABBA01000252;AMYH01000293;BX284668 1733058 D1S1404 trna 34746 MODEL 1604664 TRNAN2 transfer RNA asparagine 2 (anticodon GUU) 1 MT p36.13 17088759 17088832 + 17216172 17216245 + 6234206 791226 ABBA01000254;AMYH01000293;BX284668;K01921 TRN2 trna 33197 MODEL 2300784 TRNAN19 transfer RNA asparagine 19 (anticodon GUU) MT 147520767 147520840 - 100189193 ABBA01121183;AC239803;AMYH01001373;BX537254 trna 34756 MODEL 2300782 TRNAN20 transfer RNA asparagine 20 (anticodon GUU) MT 1383562 1383635 + 100189195 ABBA01002641;AC005329;AMYH01009246 trna 34758 MODEL 2300720 TRNAN22 transfer RNA asparagine 22 (anticodon GUU) MT 149615617 149615690 - 100189257 ABBA01016531;AL358813 trna 34820 MODEL 2300744 TRNAN21 transfer RNA asparagine 21 (anticodon GUU) MT 1 1 100189233 AL356957 1688510 RH47790 trna 34796 2300711 TRNAN23 transfer RNA asparagine 23 (anticodon GUU) MT 1 1 100189266 AL592307 trna 34829 2300706 TRNAN24 transfer RNA asparagine 24 (anticodon GUU) MT 1 1 100189271 BX248398 trna 34834 2300657 TRNAN26 transfer RNA asparagine 26 (anticodon AUU) MT 1 1 100189320 AL451043 1712649;1718997 RH121989;RH123205 trna 34887 2300673 TRNAN25 transfer RNA asparagine 25 (anticodon GUU) MT 145979034 145979107 - 100189304 AL356004;AMYH01001373 trna 34870 MODEL 2300639 TRNAN28 transfer RNA asparagine 28 (anticodon GUU) MT 1 1 100189338 AL358813 trna 34906 2300654 TRNAN27 transfer RNA asparagine 27 (anticodon GUU) MT 148598314 148598387 - 100189323 AC246785;AL954711;AMYH01001371 trna 34890 MODEL 2300621 TRNAN29 transfer RNA asparagine 29 (anticodon GUU) MT 149326272 149326345 - 100189356 ABBA01012012;AC239798;AMYH01001371;CR812485 trna 34924 MODEL 1604663 TRNAN3 transfer RNA asparagine 3 (anticodon GUU) 1 MT q21.1 147497194 147497267 - 149230570 149230643 - 6234206 791227 ABBA01010822;AC239798;AL356957;AMYH01001371;K01920 TRN3 trna 33198 MODEL 2300596 TRNAN30 transfer RNA asparagine 30 (anticodon GUU) MT 1 1 100189381 AL358813 1688510 RH47790 trna 34949 2301109 TRNAN31 transfer RNA asparagine 31 (anticodon GUU) 100189591 AL109844 trna 34968 2300575 TRNAN32 transfer RNA asparagine 32 (anticodon GUU) MT 161397867 161397940 - 100189402 ABBA01016588;AL592295;AMYH01001457 trna 34971 MODEL 2300574 TRNAN33 transfer RNA asparagine 33 (anticodon GUU) 100189403 AL137802 trna 34972 2300460 TRNAN35 transfer RNA asparagine 35 (anticodon GUU) MT q21.1 143663558 143663631 - 100189517 BX284650 TRNAN35P APPROVED trna 35092 2300443 TRNAN36P transfer RNA asparagine 36 (anticodon GUU) pseudogene 1 1 q21.2 121270664 121270737 + 149211948 149212021 - 100189534 ABBA01010823;AC239798;AL356957;AMYH01001371;NG_008592 pseudo 35111 INFERRED 7247694 TRNAN37 transfer RNA asparagine 37 (anticodon GUU) 9023104 101822346 AL137802 1688510;1733058 D1S1404;RH47790 TRNAN-GUU trna 38582 2300487 TRNAN34P transfer RNA asparagine 34 (anticodon GUU) pseudogene 1 1 q21.2 121109853 121109926 - 147851060 147851133 - 100189490 ABBA01053732;AC245100;AL592207;AMYH01001373;NG_008548 pseudo 35064 INFERRED 2300981 TRNAN4 transfer RNA asparagine 4 (anticodon GUU) MT 1 1 100188996 AL592284 trna 34553 2300950 TRNAN6 transfer RNA asparagine 6 (anticodon GUU) 100189027 AL137802 trna 34586 2300972 TRNAN5 transfer RNA asparagine 5 (anticodon GUU) MT 148000805 148000878 + 100189005 AL022240;AMYH01001347 trna 34562 MODEL 2300941 TRNAN7 transfer RNA asparagine 7 (anticodon GUU) MT 31248101 31248174 - 100189036 ABBA01035692;AL138681;AMYH01005010 trna 34595 MODEL 2300908 TRNAN9 transfer RNA asparagine 9 (anticodon GUU) MT 1 1 100189069 BX284650 trna 34628 2300918 TRNAN8 transfer RNA asparagine 8 (anticodon GUU) MT 149711798 149711871 - 100189059 AC243772;AL591493;AMYH01000981 trna 34618 MODEL 2300805 TRNAP10 transfer RNA proline 10 (anticodon CGG) MT 27059521 27059592 + 100189172 ABBA01037986;AL021807;AMYH01016186 trna 34734 MODEL 1344158 TRNAP1 transfer RNA proline 1 (anticodon AGG) MT q11.1 21077495 21077566 - 11223103;7219534;3557125;3472707;1686015;1377597;1301157 7217 ABBA01061233;AL163195;AMYH01005590;M15274 TRNP1;TRP1 trna proline 1 trna 12330 189930 MODEL 2300756 TRNAP12 transfer RNA proline 12 (anticodon CGG) MT 3222049 3222120 + 100189221 ABBA01026729;AJ003147;AMYH01007089 trna 34784 MODEL 2300766 TRNAP11 transfer RNA proline 11 (anticodon CGG) MT 167683962 167684033 + 100189211 ABBA01047242;AL356532;AMYH01001484 trna 34774 MODEL 2300754 TRNAP13 transfer RNA proline 13 (anticodon AGG) MT 26555498 26555569 + 100189223 ABBA01066558;AL121936;AMYH01016163 2135646 D6S2357 trna 34786 MODEL 2300701 TRNAP15 transfer RNA proline 15 (anticodon AGG) MT 128423504 128423575 + 100189276 AACC02000035;ABBA01057655;AC024952;AMYH01017924;CH236950 2155688 GDB:1318698 trna 34840 MODEL 2300753 TRNAP14 transfer RNA proline 14 (anticodon UGG) MT 75946869 75946940 - 100189224 AMYH01003821;AP000785 trna 34787 MODEL 2300696 TRNAP16 transfer RNA proline 16 (anticodon UGG) MT 3238094 3238165 + 100189281 ABBA01026730;AJ003147;AMYH01007089 trna 34847 MODEL 2300691 TRNAP17 transfer RNA proline 17 (anticodon UGG) MT 21101165 21101236 + 100189286 ABBA01061233;AL163195;AMYH01005590 trna 34852 MODEL 2300681 TRNAP18 transfer RNA proline 18 (anticodon AGG) MT 3239634 3239705 + 100189296 ABBA01026730;AJ003147;AMYH01007089 trna 34862 MODEL 2300642 TRNAP19 transfer RNA proline 19 (anticodon UGG) MT 3208923 3208994 + 100189335 ABBA01026729;AC108134;AMYH01007089 trna 34903 MODEL 1342763 TRNAP2 transfer RNA proline 2 (anticodon AGG) MT q11.2 21081560 21081631 - 3557125 7218 ABBA01061233;AL163195;AMYH01005590;M15347 1783026;2135646 D6S2357;SHGC-142270 TRNP1;TRP2 transfer RNA proline 2 (anticodon UGG);trna proline 2 trna 12331 189931 MODEL 2300616 TRNAP20 transfer RNA proline 20 (anticodon AGG) MT 1 1 100189361 AC108134 1340880;2169762 D16S676;L17727 trna 34929 2300589 TRNAP21 transfer RNA proline 21 (anticodon UGG) MT 3234133 3234204 - 100189388 ABBA01026729;AJ003147;AMYH01007089 trna 34956 MODEL 2300522 TRNAP22P transfer RNA proline 22 (anticodon GGG) pseudogene 10 10 p12.2 22540264 22540336 + 22852579 22852651 + 100189455 ABBA01034477;AL513128;AMYH01002183;NG_008512 pseudo 35026 INFERRED 2300501 TRNAP24P transfer RNA proline 24 (anticodon AGG) pseudogene 16 16 p13.3 3408213 3408284 - 3202609 3202680 - 100189476 ABBA01026729;AC108134;AMYH01007089;NG_008534 pseudo 35049 INFERRED 2300514 TRNAP23P transfer RNA proline 23 (anticodon UGG) pseudogene 1 1 q43 211355354 211355425 + 238105862 238105933 + 100189463 ABBA01033187;AL590396;AMYH01001865;NG_008520;NG_008799 pseudo 35035 INFERRED 2300494 TRNAP26P transfer RNA proline 26 (anticodon UGG) pseudogene 16 16 p13.3 3426596 3426666 - 3220961 3221031 - 100189483 ABBA01026729;AJ003147;AMYH01007089;NG_008541 pseudo 35056 INFERRED 2300495 TRNAP25P transfer RNA proline 25 (anticodon AGG) pseudogene 2 2 p12 77725627 77725697 + 77895593 77895663 + 100189482 ABBA01075645;AC084149;AMYH01010465;NG_008540 pseudo 35055 INFERRED 2300462 TRNAP27P transfer RNA proline 27 (anticodon UGG) pseudogene 1 1 q32.1 180429658 180429734 - 207178154 207178230 - 100189515 ABBA01048247;AC098935;AMYH01001680;NG_008573 pseudo 35090 INFERRED 2300447 TRNAP28P transfer RNA proline 28 (anticodon AGG) pseudogene 2 2 p11.2 77725627 77725697 + 87339573 87339644 + 100189530 AC092651;AMYH01010541;NG_008588 pseudo 35107 INFERRED 1346752 TRNAP3 transfer RNA proline 3 (anticodon UGG) MT q35.3 180615854 180615925 - 2676726;2613239 7219 ABBA01010095;AC008443;AMYH01015977;M27835 TRP3 trna proline (ugg) 3 trna 12332 189912 MODEL 2300958 TRNAP4 transfer RNA proline 4 (anticodon AGG) MT 167684725 167684796 - 100189019 ABBA01047242;AL356532;AMYH01001484 trna 34578 MODEL 2300889 TRNAP7 transfer RNA proline 7 (anticodon UGG) MT 21152175 21152246 + 100189088 ABBA01061234;AL163636;AMYH01005590 trna 34648 MODEL 2300957 TRNAP5 transfer RNA proline 5 (anticodon AGG) MT 3241989 3242060 + 100189020 ABBA01026730;AJ003147;AMYH01007089 trna 34579 MODEL 2300853 TRNAP8 transfer RNA proline 8 (anticodon CGG) MT 8126151 8126222 - 100189124 ABBA01054904;AC135178;AMYH01008088 trna 34686 MODEL 2300905 TRNAP6 transfer RNA proline 6 (anticodon AGG) MT 75946557 75946628 + 100189072 ABBA01017454;AMYH01003821;AP000785 trna 34631 MODEL 2300841 TRNAP9 transfer RNA proline 9 (anticodon AGG) MT 3232635 3232706 - 100189136 ABBA01026729;AJ003147;AMYH01007089 trna 34698 MODEL 1353079 TRNAQ1 transfer RNA glutamine 1 (anticodon CUG) MT p13.1 8023070 8023141 + 6296772;2066114 7228 ABBA01054897;AC129492;AMYH01008088;K01797 TRQ1 trna glutamine 1 trna 12341 189919 MODEL 2300903 TRNAQ10 transfer RNA glutamine 10 (anticodon UUG) MT 27763640 27763711 - 100189074 ABBA01038011;AL009179;AMYH01016189 trna 34633 MODEL 2300839 TRNAQ12 transfer RNA glutamine 12 (anticodon UUG) MT 28557156 28557227 + 100189138 ABBA01038023;AL049543;AMYH01016190 trna 34700 MODEL 2300856 TRNAQ11 transfer RNA glutamine 11 (anticodon CUG) MT 28909378 28909449 - 100189121 ABBA01038029;AL662865;AL662871;AL954865;AMYH01016195;BX248109;BX927167;CR936883 trna 34683 MODEL 2300823 TRNAQ14 transfer RNA glutamine 14 (anticodon CUG) MT 1 1 100189154 AL592307 trna 34716 2300837 TRNAQ13 transfer RNA glutamine 13 (anticodon CUG) MT 147505038 147505109 + 100189140 ABBA01017294;AC239803;AMYH01001373;BX537254 trna 34702 MODEL 2300792 TRNAQ15 transfer RNA glutamine 15 (anticodon UUG) MT 26311975 26312046 - 100189185 ABBA01066554;AL021917;AMYH01016162 2150664 D6S2292 trna 34748 MODEL 2300788 TRNAQ16 transfer RNA glutamine 16 (anticodon CUG) MT 27487308 27487379 + 100189189 ABBA01037998;AL021918;AMYH01016189 trna 34752 MODEL 2300763 TRNAQ17 transfer RNA glutamine 17 (anticodon CUG) MT 27759135 27759206 - 100189214 ABBA01038011;AL009179;AMYH01016189 trna 34777 MODEL 2300762 TRNAQ18 transfer RNA glutamine 18 (anticodon UUG) MT 1 1 100189215 AC012365 trna 34778 2300760 TRNAQ19 transfer RNA glutamine 19 (anticodon CUG) MT 1 1 100189217 AL138796 trna 34780 2300716 TRNAQ20 transfer RNA glutamine 20 (anticodon CUG) MT 149186125 149186196 + 100189261 ABBA01010824;AC239800;AL356957;AMYH01001371 trna 34824 MODEL 1349965 TRNAQ2 transfer RNA glutamine 2 (anticodon UUG) Mammalian cells contain at least 2 species of glutamine tRNA, the Gln(CUG) form (TRQ1; MIM 189919) and the Gln(UUG) form. Nemoto et al. (1991) [PubMed 2041751] reported the nucleotide sequence of the human tRNA(Gln/UUG) gene. In a correction, Nemoto et al. (1991) [PubMed 2041751] stated that the gene involved should have been designated tRNA-GLN/U*UG, where U* is a derivative of U.[supplied by OMIM, Sep 2009] 17 MT q21.32 44624889 44624960 + 47269890 47269961 + 2041751 7229 ABBA01041191;AC069454;AMYH01008460;X58792 TRQ2 trna glutamine 2 APPROVED trna 12342 189923 MODEL 2300709 TRNAQ21 transfer RNA glutamine 21 (anticodon CUG) MT 27515531 27515602 - 100189268 ABBA01037998;AL021918;AMYH01016189 trna 34831 MODEL 2300690 TRNAQ22 transfer RNA glutamine 22 (anticodon CUG) MT 18836402 18836473 + 100189287 ABBA01022240;AL355382;AMYH01016124 1702434 DXS1403 trna 34853 MODEL 2300675 TRNAQ23 transfer RNA glutamine 23 (anticodon CUG) MT 1 1 100189302 AL035045 trna 34868 2300660 TRNAQ24 transfer RNA glutamine 24 (anticodon CUG) MT 66161400 66161471 - 100189317 ABBA01038835;AC084854;AMYH01006720 trna 34884 MODEL 2300656 TRNAQ25 transfer RNA glutamine 25 (anticodon UUG) MT 26311424 26311495 - 100189321 ABBA01066554;AL021917;AMYH01016162 2150664 D6S2292 trna 34888 MODEL 2300655 TRNAQ26 transfer RNA glutamine 26 (anticodon CUG) MT 1 1 100189322 AL139152 trna 34889 2300648 TRNAQ27 transfer RNA glutamine 27 (anticodon CUG) MT 27263212 27263283 + 100189329 ABBA01037992;AL021808;AMYH01016188 trna 34896 MODEL 2300626 TRNAQ28 transfer RNA glutamine 28 (anticodon CUG) MT 1 1 100189351 AC009097 trna 34919 2300591 TRNAQ29 transfer RNA glutamine 29 (anticodon CUG) MT 145963304 145963375 + 100189386 AL356004;AMYH01001373 trna 34954 MODEL 2300979 TRNAQ3 transfer RNA glutamine 3 (anticodon CUG) MT 147800937 147801008 + 100188998 ABBA01053732;AC245100;AL592207;AMYH01001373 trna 34555 MODEL 2300580 TRNAQ31 transfer RNA glutamine 31 (anticodon UUG) MT 1 1 100189397 AC025283 trna 34965 2300588 TRNAQ30 transfer RNA glutamine 30 (anticodon CUG) MT 1 1 100189389 AC021648 trna 34957 2300533 TRNAQ33P transfer RNA glutamine 33 (anticodon UUG) pseudogene 5 5 q14.1 73212635 73212707 - 77318776 77318848 - 100189444 ABBA01061990;AC024578;AMYH01015429;NG_008500 pseudo 35014 INFERRED 2300555 TRNAQ32 transfer RNA glutamine 32 (anticodon UUG) MT 145503859 145503930 + 100189422 ABBA01025731;AL050334;AMYH01016725 trna 34991 MODEL 2300532 TRNAQ34P transfer RNA glutamine 34 (anticodon UUG) pseudogene 2 2 q21.1 124303242 124303313 - 131029911 131029982 - 100189445 ABBA01017954;AC068137;AMYH01011053;NG_008501 pseudo 35015 INFERRED 2300529 TRNAQ35P transfer RNA glutamine 35 (anticodon UUG) pseudogene Y Y p11.2 981527 981601 + 8240140 8240214 - 100189448 ABBA01060229;AC025731;NG_008504 pseudo 35018 INFERRED 2300526 TRNAQ36P transfer RNA glutamine 36 (anticodon UUG) pseudogene 2 2 q21.1 125866364 125866435 + 132143133 132143204 + 100189451 ABBA01028239;AC073869;AMYH01011101;NG_008507 pseudo 35022 INFERRED 2300525 TRNAQ37P transfer RNA glutamine 37 (anticodon CUG) pseudogene 1 1 q21.2 121403240 121403311 - 149079364 149079435 + 100189452 ABBA01010827;AC239800;AL732363;AMYH01001371;NG_008508 pseudo 35023 INFERRED 2300504 TRNAQ39P transfer RNA glutamine 39 (anticodon UUG) pseudogene 2 2 p21 45775652 45775724 - 45937441 45937513 - 100189473 ABBA01075132;AC092600;AMYH01010310;NG_008531 pseudo 35046 INFERRED 2301108 TRNAQ4 transfer RNA glutamine 4 (anticodon CUG) 100189592 AC026900 trna 34565 2300516 TRNAQ38P transfer RNA glutamine 38 (anticodon CUG) pseudogene 10 10 p12.31 19722727 19722809 - 20036608 20036682 - 100189461 ABBA01034516;AL353147;AMYH01002164;NG_008518 pseudo 35033 INFERRED 2300502 TRNAQ40P transfer RNA glutamine 40 (anticodon UUG) pseudogene X X p11.21 59041824 59041895 + 55206666 55206737 + 100189475 AL158819;AMYH01022435;NG_008533 pseudo 35048 INFERRED 2300499 TRNAQ41P transfer RNA glutamine 41 (anticodon UUG) pseudogene 17 17 p11.2 16919497 16919568 - 19506587 19506658 - 100189478 ABBA01054600;AC025627;AMYH01008235;NG_008536 pseudo 35051 INFERRED 2300488 TRNAQ42P transfer RNA glutamine 42 (anticodon UUG) pseudogene 3 q13.12 106620878 106620949 - 100189489 ABBA01061716;AC063927;AMYH01013375;NG_008547 pseudo 35062 INFERRED 2300476 TRNAQ43P transfer RNA glutamine 43 (anticodon UUG) pseudogene 8 8 p12 31820177 31820248 - 32872646 32872717 - 100189501 ABBA01023618;AC090204;AMYH01018631;NG_008559 pseudo 35076 INFERRED 2300474 TRNAQ44P transfer RNA glutamine 44 (anticodon CUG) pseudogene 2 2 q35 213258890 213258965 + 219491132 219491207 + 100189503 ABBA01023863;AC012510;AMYH01011497;NG_008561 pseudo 35078 INFERRED 2300468 TRNAQ46P transfer RNA glutamine 46 (anticodon UUG) pseudogene 12 12 q23.1 97156704 97156777 - 97490691 97490764 - 100189509 ABBA01053307;AC007656;AMYH01004684;NG_008567 pseudo 35084 INFERRED 2300467 TRNAQ47P transfer RNA glutamine 47 (anticodon UUG) pseudogene 12 12 q13.12 49007205 49007279 - 50211190 50211264 - 100189510 ABBA01031536;AC131157;AMYH01004446;NG_008568 pseudo 35085 INFERRED 2300472 TRNAQ45P transfer RNA glutamine 45 (anticodon UUG) pseudogene 19 19 p13.2 9045230 9045302 - 9150356 9150428 - 100189505 ABBA01029990;AC016584;AMYH01009458;NG_008563 pseudo 35080 INFERRED 2300461 TRNAQ48P transfer RNA glutamine 48 (anticodon UUG) pseudogene 7 7 7 q34 136224806 136224877 + 141503357 141503428 + 141503357 141503428 + 100189516 AACC02000020;ABBA01034110;AC004979;AMYH01017998;CH236950;NG_008574 pseudo 35091 INFERRED 2300454 TRNAQ49P transfer RNA glutamine 49 (anticodon CUG) pseudogene 1 p 16879957 16880028 + 101056699 ABBA01134608;AL355149;AMYH01000281;NG_032957 TRNAL48;TRNAV13 APPROVED pseudo 35098 INFERRED 2300967 TRNAQ5 transfer RNA glutamine 5 (anticodon UUG) MT 1 1 100189010 AL096712 trna 34569 2300442 TRNAQ52P transfer RNA glutamine 52 (anticodon UUG) pseudogene 7 7 p11.2 57253980 57254051 - 57253980 57254051 - 100189535 ABBA01028299;AC099654;AMYH01017334;NG_008593 pseudo 35112 INFERRED 2300453 TRNAQ50P transfer RNA glutamine 50 (anticodon UUG) pseudogene 13 13 q13.3 17706638 17706709 - 36639747 36639818 - 100189524 ABBA01021363;AL157694;AMYH01005037;NG_008582 pseudo 35099 INFERRED 2300437 TRNAQ54P transfer RNA glutamine 54 (anticodon UUG) pseudogene 4 4 q32.1 153715392 153715463 + 156383888 156383959 + 100189540 ABBA01070169;AC097526;AMYH01014635;NG_008598 pseudo 35117 INFERRED 2300439 TRNAQ53P transfer RNA glutamine 53 (anticodon CUG) pseudogene 5 5 q33.1 147329494 147329565 - 151248074 151248145 - 100189538 ABBA01026259;AC091982;AMYH01015713;NG_008596 pseudo 35115 INFERRED 2300446 TRNAQ51P transfer RNA glutamine 51 (anticodon CUG) pseudogene 1 1 q21.2 121084499 121084570 + 147825689 147825760 + 100189531 ABBA01053732;AC245100;AL592207;AMYH01001373;NG_008589 pseudo 35108 INFERRED 6908972 TRNAQ55 transfer RNA glutamine 55 (anticodon CUG) MT p36.13 17180900 17180971 - 100189523 BX284668 trna 38574 2300961 TRNAQ6 transfer RNA glutamine 6 (anticodon CUG) MT 1 1 100189016 AC006450 trna 34575 2300921 TRNAQ8 transfer RNA glutamine 8 (anticodon CUG) MT 147737382 147737453 - 100189056 ABBA01002268;AC239809;AL451043;AMYH01001297 trna 34615 MODEL 2300951 TRNAQ7 transfer RNA glutamine 7 (anticodon UUG) MT 1 1 100189026 AC108937 trna 34585 2300919 TRNAQ9 transfer RNA glutamine 9 (anticodon UUG) MT 1 1 100189058 AL161450 trna 34617 1353741 TRNAR1 transfer RNA arginine 1 (anticodon UCU) Transfer RNA arginine-1 has an anticodon UCU (Morrison et al., 1991 [PubMed 2066114]).[supplied by OMIM, Sep 2009] MT p13.1 8024243 8024330 + 10662545;7703509;2066114 7230 ABBA01054897;AC129492;AMYH01008088;Z26635 2139449 humtgkql TRR1 trna arginine (ucu) 1 APPROVED trna 12343 610406 MODEL 2300878 TRNAR10 transfer RNA arginine 10 (anticodon ACG) MT 27182952 27183024 + 100189099 ABBA01037989;AL021808;AMYH01016188 trna 34660 MODEL 2300874 TRNAR11 transfer RNA arginine 11 (anticodon ACG) MT 45730491 45730563 - 100189103 ABBA01024721;AC098476;AMYH01013130 trna 34664 MODEL 2300868 TRNAR12 transfer RNA arginine 12 (anticodon UCU) MT 131102355 131102445 - 100189109 ABBA01043877;AL359091;AMYH01021743 trna 34670 MODEL 2300435 TRNAR13 transfer RNA arginine 13 (anticodon CCG) 100189587 AC134407 trna 34672 2300862 TRNAR14 transfer RNA arginine 14 (anticodon UCU) MT 59318767 59318852 + 100189115 ABBA01021502;AMYH01003661;AP003778 trna 34677 MODEL 2300844 TRNAR15 transfer RNA arginine 15 (anticodon UCU) MT 94313129 94313213 + 100189133 ABBA01045519;AL049796;AMYH01000805 trna 34695 MODEL 2300810 TRNAR17 transfer RNA arginine 17 (anticodon ACG) MT 27181623 27181695 - 100189167 ABBA01037989;AL121934;AMYH01016188 trna 34729 MODEL 2300809 TRNAR18 transfer RNA arginine 18 (anticodon CCU) MT 3202901 3202973 + 100189168 ABBA01026729;AC108134;AMYH01007089 trna 34730 MODEL 2300811 TRNAR16 transfer RNA arginine 16 (anticodon UCU) MT 159111401 159111474 - 100189166 ABBA01016620;AL035403;AMYH01001444 2173585 B364YF5 trna 34728 MODEL 2300804 TRNAR19 transfer RNA arginine 19 (anticodon CCG) MT 3200675 3200747 + 100189173 ABBA01026728;AC108134;AMYH01007089 1712829 RH120131 trna 34735 MODEL 2300796 TRNAR20 transfer RNA arginine 20 (anticodon CCU) MT 73030526 73030598 - 100189181 ABBA01028819;AC087651;AMYH01008629 trna 34744 MODEL 2300734 TRNAR21 transfer RNA arginine 21 (anticodon ACG) MT 23398910 23398982 + 100189243 ABBA01061291;AL132780;AMYH01005600 trna 34806 MODEL 2300612 TRNAR24 transfer RNA arginine 24 (anticodon CCG) MT 28710729 28710801 - 100189365 ABBA01038026;AL662890;AL671879;AMYH01016193;BX088523;CR753905 trna 34933 MODEL 2300707 TRNAR23 transfer RNA arginine 23 (anticodon CCU) MT 3243918 3243990 + 100189270 AJ003147;AMYH01007089 trna 34833 MODEL 2300606 TRNAR25 transfer RNA arginine 25 (anticodon UCG) MT 73031208 73031280 + 100189371 ABBA01028819;AC087651;AMYH01008629 trna 34939 MODEL 2300581 TRNAR26 transfer RNA arginine 26 (anticodon ACG) MT 26328368 26328440 + 100189396 ABBA01066554;AL021917;AMYH01016162 2175176 D6S2367 trna 34964 MODEL 2300571 TRNAR27 transfer RNA arginine 27 (anticodon CCU) MT 139025446 139025518 + 100189406 AACC02000025;ABBA01001188;AC083880;AMYH01017976;CH236950 trna 34975 MODEL 2300567 TRNAR28 transfer RNA arginine 28 (anticodon UCG) MT 26323046 26323118 + 100189410 ABBA01066554;AL021917;AMYH01016162 trna 34979 MODEL 2300549 TRNAR29 transfer RNA arginine 29 (anticodon ACG) MT 27638344 27638416 - 100189428 ABBA01038004;AL031229;AMYH01016189 2156022;2175249 D6S1078;RH37471 trna 34997 MODEL 1347212 TRNAR3 transfer RNA arginine 3 (anticodon UCG) MT p22.1 26299905 26299977 + 8661117 7232 ABBA01066554;AL021917;AMYH01016162;Z69590 TRR3 trna arginine (ucg) 3 trna 12345 601432 MODEL 2300534 TRNAR30P transfer RNA arginine 30 (anticodon CCU) pseudogene 1 q21.2 149343081 149343151 - 100189443 ABBA01169560;AC239798;AL109948;AMYH01001371;NG_008499 pseudo 35013 INFERRED 2300528 TRNAR31P transfer RNA arginine 31 (anticodon CCU) pseudogene 1 1 q21.2 120877507 120877577 - 147483291 147483361 + 100189449 ABBA01004431;AC239803;BX537254;NG_008505 pseudo 35019 INFERRED 2300456 TRNAR33P transfer RNA arginine 33 (anticodon CCU) pseudogene 1 1 q21.1 120877507 120877577 - 145941579 145941649 + 100189521 AL356004;AMYH01001373;NG_008579 pseudo 35096 INFERRED 2300475 TRNAR32P transfer RNA arginine 32 (anticodon CCU) pseudogene 1 q21.2 149728271 149728341 - 100189502 AC243772;AL591493;AMYH01001373;NG_008560 pseudo 35077 INFERRED 2300440 TRNAR34P transfer RNA arginine 34 (anticodon CCU) pseudogene 11 11 q13.1 60987958 60988026 + 63661767 63661835 + 100189537 ABBA01003274;AP003780;NG_008595;NG_029771 pseudo 35114 INFERRED 1348939 TRNAR4 transfer RNA arginine 4 (anticodon CCG) MT q24.2 66016013 66016085 - 7233 ABBA01028973;AC134407;AMYH01024786 TRR4 trna 12346 MODEL 2300965 TRNAR5 transfer RNA arginine 5 (anticodon UCU) MT 27529963 27530049 + 100189012 ABBA01037999;AL021918;AMYH01016189 trna 34571 MODEL 2300943 TRNAR7 transfer RNA arginine 7 (anticodon UCG) MT 28510891 28510963 - 100189034 ABBA01038021;AL049543;AMYH01016190 trna 34593 MODEL 2300952 TRNAR6 transfer RNA arginine 6 (anticodon UCG) MT 112960803 112960875 + 100189025 ABBA01042751;AL353598;AMYH01021626 trna 34584 MODEL 2300899 TRNAR8 transfer RNA arginine 8 (anticodon CCU) MT 73030001 73030073 + 100189078 ABBA01028819;AC087651;AMYH01008629 trna 34638 MODEL 2300893 TRNAR9 transfer RNA arginine 9 (anticodon CCG) MT 28849165 28849237 + 100189084 ABBA01038028;AL662859;AL662871;AMYH01016194;BX000360;BX119924;CR759942;CR936876 trna 34644 MODEL 1348651 TRNAS1 transfer RNA serine 1 (anticodon UGA) Hong et al. (1987) [PubMed 3648680] sequenced a human serine (UGA) tRNA by the dideoxysequencing method. The gene forms a typical cloverleaf structure with all appropriate conserved bases. It shows high nucleotide sequence homology with a previously sequenced serine tRNA (Yoo, 1984).[supplied by OMIM, Sep 2009] 6 MT p22.1 27621447 27621528 + 27513468 27513549 + 3648680 94017 ABBA01037998;AL021918;AMYH01016189;Y00355 TRS1 trna serine (uga) 1 APPROVED trna 16292 606171 MODEL 2300825 TRNAS11 transfer RNA serine 11 (anticodon CGA) MT 56584148 56584229 + 100189152 ABBA01008408;AC073896;AMYH01004500 trna 34714 MODEL 2300900 TRNAS10 transfer RNA serine 10 (anticodon AGA) MT 27446591 27446672 + 100189077 ABBA01037996;AL021918;AMYH01016188 trna 34637 MODEL 1343866 TRNAR2 transfer RNA arginine 2 (anticodon ACG) 6 MT p21.3 26645705 26645777 + 26537726 26537798 + 8344269;2585499;1457046 7231 ABBA01066557;AL121936;AMYH01016163;X64282 TRR2 trna arginine (acg) 2 trna 12344 615305 MODEL 2300820 TRNAS12 transfer RNA serine 12 (anticodon GCU) MT 27065085 27065166 + 100189157 ABBA01037986;AL021807;AMYH01016186 2167710 D6S2346 trna 34719 MODEL 2300818 TRNAS13 transfer RNA serine 13 (anticodon GCU) MT 28180815 28180896 + 100189159 ABBA01038015;AL022393;AMYH01016189 1775788;2148198 FB2A3;WI-13282 trna 34721 MODEL 2300793 TRNAS14 transfer RNA serine 14 (anticodon AGA) MT 8129928 8130009 - 100189184 ABBA01054904;AC135178;AMYH01008088 1690087;2123766;2145580 D17S1556;D17S1773;RH18359 trna 34747 MODEL 2300759 TRNAS16 transfer RNA serine 16 (anticodon GCU) MT 26305718 26305801 - 100189218 ABBA01066554;AL021917;AMYH01016162 trna 34781 MODEL 2300772 TRNAS15 transfer RNA serine 15 (anticodon CGA) MT 27640229 27640310 - 100189205 ABBA01038004;AL009179;AMYH01016189 trna 34768 MODEL 2300752 TRNAS17 transfer RNA serine 17 (anticodon GCU) MT 28565117 28565198 - 100189225 ABBA01038023;AL049543;AMYH01016190 trna 34788 MODEL 2300748 TRNAS18 transfer RNA serine 18 (anticodon GCU) MT 40886023 40886104 - 100189229 ABBA01038442;AC022405;AMYH01006563 trna 34792 MODEL 2300730 TRNAS19 transfer RNA serine 19 (anticodon AGA) MT 27470818 27470899 + 100189247 ABBA01037998;AL021918;AMYH01016189 trna 34810 MODEL 2300713 TRNAR22 transfer RNA arginine 22 (anticodon UCG) MT 89878304 89878376 + 100189264 ABBA01053007;AC124068;AMYH01006914 2135114 G16014 trna 34827 MODEL 1342551 TRNAS2 transfer RNA serine 2 (anticodon AGA) Hoe et al. (1987) [PubMed 3697066] sequenced a human serine (AGA) tRNA by the dideoxysequencing method and compared it with previously sequenced serine tRNAs.[supplied by OMIM, Sep 2009] 6 MT p21.3 27571572 27571653 + 27463593 27463674 + 3697066;9637248 23437 ABBA01037998;AL021918;AMYH01016189;M38616;X06221 1753595 SHGC-107535 TRNS;TRS2;tRNA-SER trna serine (aga) 2 APPROVED trna 16293 189910 MODEL 2300729 TRNAS20 transfer RNA serine 20 (anticodon AGA) MT 96281885 96281966 - 100189248 ABBA01037480;AC024995;AMYH01018901 trna 34811 MODEL 2300698 TRNAS21 transfer RNA serine 21 (anticodon UGA) MT 69524261 69524342 + 100189279 ABBA01019548;AL133551;AMYH01002794 trna 34845 MODEL 2300625 TRNAS24 transfer RNA serine 24 (anticodon AGA) MT 27509554 27509635 - 100189352 ABBA01037998;AL021918;AMYH01016189 trna 34920 MODEL 2300692 TRNAS22 transfer RNA serine 22 (anticodon GCU) MT 66115591 66115672 + 100189285 ABBA01024083;AMYH01003734;AP001107 trna 34851 MODEL 2300646 TRNAS23 transfer RNA serine 23 (anticodon GCU) MT 8090184 8090265 + 100189331 ABBA01054901;AC129492;AMYH01008088 trna 34898 MODEL 2300595 TRNAS25 transfer RNA serine 25 (anticodon AGA) MT 26327817 26327898 + 100189382 ABBA01066554;AL021917;AMYH01016162 2175176 D6S2367 trna 34950 MODEL 2300547 TRNAS27 transfer RNA serine 27 (anticodon UGA) MT 26312824 26312905 - 100189430 ABBA01066554;AL021917;AMYH01016162 2150664 D6S2292 trna 34999 MODEL 2300557 TRNAS26 transfer RNA serine 26 (anticodon AGA) MT 1 1 100189420 AP003123 trna 34989 2300545 TRNAS28 transfer RNA serine 28 (anticodon AGA) MT 149305467 149305538 + 100189432 AACC02000041;ABBA01033635;AC004932;AMYH01018123 trna 35001 MODEL 2300490 TRNAS29P transfer RNA serine 29 (anticodon AGA) pseudogene 20 20 q11.21 26844885 26844956 + 30088703 30088774 + 100189487 ABBA01019307;AL121751;AMYH01011829;NG_008545 pseudo 35060 INFERRED 1351968 TRNAS3 transfer RNA serine 3 (anticodon UGA) Hong et al. (1992) [PubMed 1549482] sequenced a human serine tRNA by the dideoxysequencing method. Sequence analysis revealed that the gene forms a typical cloverleaf structure with all appropriate conserved bases, and that the anticodon sequence is 5-prime-UGA-3-prime. The gene has no introns and its nucleotide sequence is highly homologous to those of previously characterized serine tRNAs.[supplied by OMIM, Sep 2009] 6 MT p22.1 27581586 27581667 - 27473607 27473688 - 1549482 23540 ABBA01037998;AL021918;AMYH01016189;X63138 TRS3 trna serine (uga) 3 APPROVED trna 16294 606172 MODEL 2300465 TRNAS30P transfer RNA serine 30 (anticodon UGA) pseudogene 17 17 p11.2 20207850 20207918 - 22028179 22028247 - 100189512 ABBA01006755;AC131055;AMYH01008270;NG_008570 pseudo 35087 INFERRED 2300452 TRNAS31P transfer RNA serine 31 (anticodon UGA) pseudogene 2 2 q21.1 125863373 125863442 + 132140142 132140211 + 100189525 ABBA01028239;AC073869;AMYH01011101;NG_008583 pseudo 35100 INFERRED 2300975 TRNAS5 transfer RNA serine 5 (anticodon GCU) MT 27265775 27265856 + 100189002 ABBA01037992;AL021808;AMYH01016188 trna 34559 MODEL 1605442 TRNAS4 transfer RNA serine 4 (anticodon AGA) 6 MT p22.1 27607966 27608047 + 27499987 27500068 + 3340558 790951 ABBA01037998;AL021918;AMYH01016189;X06760 TRS4 trna 33201 MODEL 2300451 TRNAS32P transfer RNA serine 32 (anticodon ACU) pseudogene 6 6 p22.1 28867674 28867747 + 27261671 27261744 + 100189526 ABBA01037992;AL021808;AMYH01016188;NG_008584 pseudo 35102 INFERRED 2300940 TRNAS6 transfer RNA serine 6 (anticodon CGA) MT 8042199 8042280 - 100189037 ABBA01054897;AC129492;AMYH01008088 2176232 STS-N78772 trna 34596 MODEL 2300936 TRNAS7 transfer RNA serine 7 (anticodon CGA) MT 27177628 27177709 + 100189041 ABBA01037989;AL121934;AMYH01016188 trna 34600 MODEL 2300922 TRNAS8 transfer RNA serine 8 (anticodon UGA) MT 1 1 100189055 AC068137 trna 34614 2300907 TRNAS9 transfer RNA serine 9 (anticodon AGA) MT 27521192 27521273 - 100189070 ABBA01037998;AL021918;AMYH01016189 trna 34629 MODEL 2300647 TRNASUP2 transfer RNA suppressor 2 (anticodon UUA) MT 1 1 100189330 AF165138 trna 34897 2300897 TRNASUP1 transfer RNA suppressor 1 (anticodon UUA) MT q23.2 58863593 58863663 + 100189080 ABBA01035397;AC079005;AMYH01008531 trna 34640 MODEL 2300535 TRNASUP4P transfer RNA suppressor 4 (anticodon CUA) pseudogene 3 3 p25.1 13772190 13772257 + 13833886 13833953 + 100189442 AC090646;NG_008498 pseudo 35012 INFERRED 2300524 TRNASUP5P transfer RNA suppressor 5 (anticodon UUA) pseudogene 4 4 p16.1 7230916 7230987 - 7325838 7325909 - 100189453 ABBA01012744;AC080003;AMYH01013925;NG_008509 pseudo 35024 INFERRED 2300507 TRNASUP6P transfer RNA suppressor 6 (anticodon CUA) pseudogene 14 14 q24.3 58739002 58739074 - 78700838 78700910 - 100189470 ABBA01030638;AF099810;AMYH01005888;NG_008528 pseudo 35043 INFERRED 2300732 TRNAT10 transfer RNA threonine 10 (anticodon CGU) MT 29877093 29877164 + 100189245 ABBA01014957;AC003101;AMYH01008324 trna 34808 MODEL 2300714 TRNAT12 transfer RNA threonine 12 (anticodon UGU) MT 21149849 21149921 + 100189263 ABBA01061234;AL163636;AMYH01005590 1717317 RH122149 trna 34826 MODEL 2300719 TRNAT11 transfer RNA threonine 11 (anticodon CGU) MT 1 1 100189258 AL021808 trna 34821 2300677 TRNAT13 transfer RNA threonine 13 (anticodon CGU) MT 27586135 27586208 + 100189300 ABBA01038002;AL031229;AMYH01016189 trna 34866 MODEL 2300658 TRNAT14 transfer RNA threonine 14 (anticodon AGU) MT 26533145 26533218 - 100189319 ABBA01066557;AL121936;AMYH01016163 trna 34886 MODEL 2300637 TRNAT15 transfer RNA threonine 15 (anticodon AGU) MT 27652474 27652547 - 1457046;8344269 100189340 ABBA01038005;AL009179;AMYH01016189;X64276 trna 34908 615309 MODEL 2300633 TRNAT16 transfer RNA threonine 16 (anticodon UGU) MT 28442329 28442402 - 100189344 ABBA01038019;AMYH01016190;Z98745 trna 34912 MODEL 2300603 TRNAT18 transfer RNA threonine 18 (anticodon AGU) MT 27694473 27694546 + 100189374 ABBA01038008;AL009179;AMYH01016189 trna 34942 MODEL 2300617 TRNAT17 transfer RNA threonine 17 (anticodon CGU) MT 28615984 28616057 - 100189360 ABBA01038024;AL121932;AL671879;AMYH01016191 trna 34928 MODEL 2300599 TRNAT19 transfer RNA threonine 19 (anticodon UGU) MT 222638347 222638419 + 100189378 ABBA01048056;AL513314;AMYH01001745 trna 34946 MODEL 1345339 TRNAT2 transfer RNA threonine 2 (anticodon UGU) MT q11.2 21081949 21082021 - 7237 ABBA01061233;AL163195;AMYH01005590 1783026 SHGC-142270 TRT2 trna 12351 189933 MODEL 2300558 TRNAT20 transfer RNA threonine 20 (anticodon UGU) MT 21099319 21099391 - 100189419 ABBA01061233;AL163195;AMYH01005590 trna 34988 MODEL 2300544 TRNAT21 transfer RNA threonine 21 (anticodon AGU) MT 28693795 28693868 + 100189433 ABBA01038025;AL390196;AL671879;AMYH01016192 trna 35003 MODEL 2300539 TRNAT22 transfer RNA threonine 22 (anticodon AGU) MT 8042770 8042843 - 100189438 ABBA01054897;AC129492;AMYH01008088 2176232 STS-N78772 trna 35008 MODEL 1347971 TRNAT3 transfer RNA threonine 3 (anticodon AGU) MT q24.1 1 1 7238 AC009994 TRT3 trna 12352 2300971 TRNAT4 transfer RNA threonine 4 (anticodon AGU) MT 33667963 33668036 + 100189006 ABBA01039618;AC008738;AMYH01009701 trna 34563 MODEL 2300942 TRNAT5 transfer RNA threonine 5 (anticodon CGU) MT 28456770 28456843 - 100189035 ABBA01038019;AMYH01016190;Z98745 trna 34594 MODEL 2300891 TRNAT6 transfer RNA threonine 6 (anticodon CGU) MT 14379750 14379821 + 100189086 ABBA01006881;AC040173;AMYH01007178 trna 34646 MODEL 1348605 TRNAT1 transfer RNA threonine 1 (anticodon UGU) 5 MT q35.3 180551293 180551364 - 180618687 180618758 - 2676726;2613239 7236 ABBA01010095;AC008443;AMYH01015977;M27834 TRT1 trna threonine (ugu) 1 trna 12350 189913 MODEL 2300834 TRNAT7 transfer RNA threonine 7 (anticodon AGU) MT 27130050 27130123 + 100189143 ABBA01037988;AL021807;AMYH01016186 trna 34705 MODEL 2300790 TRNAT8 transfer RNA threonine 8 (anticodon AGU) MT 8090478 8090551 + 100189187 ABBA01054901;AC129492;AMYH01008088 trna 34750 MODEL 2300755 TRNAT9 transfer RNA threonine 9 (anticodon AGU) MT 8129553 8129626 - 100189222 ABBA01054904;AC135178;AMYH01008088 1690087;2123766;2145580 D17S1556;D17S1773;RH18359 trna 34785 MODEL 1348963 TRNAU2 transfer RNA selenocysteine 2 (anticodon UCA) 22 MT q11 42877676 42878228 + 44546537 44546622 + 3156131 7235 ABBA01014595;AL031595;AMYH01012833;K02924 TRSP2;TRSPP1 trna 12349 MODEL 2300988 TRNAU3 transfer RNA selenocysteine 3 (anticodon UCA) MT q21.1 1 1 100188989 AC068669 1733478 D17S1246 trna 34525 2300551 TRNASUP3 transfer RNA suppressor 3 (anticodon CUA) MT 1 1 100189426 AC005517 trna 34995 2300984 TRNAV11 transfer RNA valine 11 (anticodon UAC) MT 59318102 59318174 - 100188993 ABBA01021502;AMYH01003661;AP003778 trna 34544 MODEL 2300985 TRNAV10 transfer RNA valine 10 (anticodon AAC) MT 180615416 180615488 - 100188992 ABBA01010095;AC008443;AMYH01015977 trna 34543 MODEL 1351363 TRNAV1 transfer RNA valine 1 (anticodon AAC) There appear to be about 1,300 tRNA genes in the human genome (Hatlen and Attardi, 1971 [PubMed 4929578]). Arnold et al. (1986) [PubMed 3023191] detected a minimum of 13 valine tRNA genes in genomic blots of human DNA.[supplied by OMIM, Sep 2009] MT q35.3 180645270 180645342 - 4929578;3023191;2766931 7239 ABBA01010096;AC008443;AMYH01015977;M33940 TRV;TRV1 trna valine 1 APPROVED trna 12353 189921 MODEL 2300963 TRNAV12 transfer RNA valine 12 (anticodon AAC) MT 27203288 27203360 + 1457046;8344269 100189014 ABBA01037991;AL021808;AMYH01016188;X64279 trna 34573 615307 MODEL 2300954 TRNAV13 transfer RNA valine 13 (anticodon CAC) 100189023 AL137798 trna 34582 1347105 TRNAU1 transfer RNA selenocysteine 1 (anticodon UCA) Opal suppressor phosphoserine tRNAs are the only authentic, naturally occurring suppressor tRNAs in higher eukaryotes. The human genome contains a single opal suppressor phosphoserine tRNA gene, TRNAU1 (O'Neill et al., 1985 [PubMed 3156131]).[supplied by OMIM, Nov 2010] 19 MT q13.2-q13.3 50673700 50673785 - 45981860 45981945 - 6480464 3156131;1395717 7234 ABBA01040931;AC138534;AMYH01009851;K02923 TRSP;tRNA(Sec) transfer RNA selenocysteine/phosphoserine (opal suppressor);trna phosphoserine (opal suppressor) APPROVED trna 12348 165060 MODEL 2300904 TRNAV14 transfer RNA valine 14 (anticodon CAC) MT 1 1 100189073 AL009179 trna 34632 2300876 TRNAV15 transfer RNA valine 15 (anticodon CAC) MT 27696327 27696399 - 100189101 ABBA01038008;AL009179;AMYH01016189 2184449 D6S2287 trna 34662 MODEL 2300835 TRNAV16 transfer RNA valine 16 (anticodon CAC) MT 149294666 149294736 - 100189142 AC239798;AL356957;AMYH01001371 1751699 SHGC-105732 trna 34704 MODEL 2300816 TRNAV17 transfer RNA valine 17 (anticodon AAC) MT 27648885 27648957 - 1457046;8344269 100189161 AL009179;AMYH01016189;X64277 trna 34723 615308 MODEL 2300799 TRNAV18 transfer RNA valine 18 (anticodon AAC) MT 28703206 28703277 - 100189178 ABBA01038025;AL662890;AL671879;AMYH01016192;BX088523 trna 34740 MODEL 2300786 TRNAV19 transfer RNA valine 19 (anticodon UAC) MT 18693029 18693101 - 100189191 ABBA01071669;AMYH01022122;Z94056 trna 34754 MODEL 2300781 TRNAV20 transfer RNA valine 20 (anticodon CAC) MT 27118022 27118094 + 100189196 ABBA01037988;AL021807;AMYH01016186 trna 34759 MODEL 1347207 TRNAV2 transfer RNA valine 2 (anticodon CAC) MT q35.3 180524070 180524142 + 7240 ABBA01010090;AC008620 TRV2 trna 12354 612995 MODEL 2300749 TRNAV22 transfer RNA valine 22 (anticodon CAC) MT 149684088 149684161 - 100189228 AC243772;AL358813;AMYH01000981 1687844;1692214 AL033762;RH80349 trna 34791 MODEL 2300750 TRNAV21 transfer RNA valine 21 (anticodon CAC) MT 26538282 26538354 + 1457046;2585499;8344269 100189227 ABBA01066557;AL121936;AMYH01016163;X17517;X64282 trna 34790 615306 MODEL 2300694 TRNAV23 transfer RNA valine 23 (anticodon UAC) MT 59318460 59318532 - 100189283 ABBA01021502;AMYH01003661;AP003778 trna 34849 MODEL 2300659 TRNAV24 transfer RNA valine 24 (anticodon AAC) MT 169490018 169490090 + 1457046;8344269 100189318 ABBA01058704;AC078802;AMYH01013642;X64278 trna 34885 615310 MODEL 2300651 TRNAV25 transfer RNA valine 25 (anticodon CAC) MT 149298555 149298627 - 100189326 AC239798;AL356957;AMYH01001371 1687844;1692214 AL033762;RH80349 trna 34893 MODEL 2300635 TRNAV26 transfer RNA valine 26 (anticodon UAC) MT 5895674 5895746 - 100189342 ABBA01034771;AL596094;AMYH01002002 trna 34910 MODEL 2300609 TRNAV28 transfer RNA valine 28 (anticodon CAC) MT 27173867 27173939 - 100189368 ABBA01037989;AL121934;AMYH01016188 trna 34936 MODEL 2300614 TRNAV27 transfer RNA valine 27 (anticodon CAC) MT 27248049 27248121 - 100189363 ABBA01037992;AL021808;AMYH01016188 2189669 D6S2219 trna 34931 MODEL 2300604 TRNAV29 transfer RNA valine 29 (anticodon CAC) MT 161369490 161369562 - 100189373 ABBA01016589;AL592295;AMYH01001457 trna 34941 MODEL 1344675 TRNAV3 transfer RNA valine 3 (anticodon AAC) MT 180596610 180596682 + 7241 ABBA01010093;AC008620;AMYH01015977 TRV3 trna 12355 MODEL 2300573 TRNAV30 transfer RNA valine 30 (anticodon AAC) MT 1 1 100189404 AL390718 trna 34973 2300569 TRNAV31 transfer RNA valine 31 (anticodon UAC) MT 27258405 27258477 + 100189408 ABBA01037992;AL021808;AMYH01016188 trna 34977 MODEL 2300561 TRNAV32 transfer RNA valine 32 (anticodon CAC) MT 4724647 4724719 - 1457046;2585499;8344269 100189416 ABBA01056049;AC005783;AMYH01009344;X17515;X64281 trna 34985 615304 MODEL 2300500 TRNAV33P transfer RNA valine 33 (anticodon CAC) pseudogene 20 20 q13.12 40659529 40659601 + 43951001 43951073 + 100189477 ABBA01052660;AL021578;AMYH01011937;NG_008535 pseudo 35050 INFERRED 2300498 TRNAV34P transfer RNA valine 34 (anticodon CAC) pseudogene 1 p36.13 17186693 17186765 + 100189479 AMYH01000293;BX284668;NG_008537 pseudo 35052 INFERRED 2300436 TRNAV4 transfer RNA valine 4 (anticodon CAC) MT 180600650 180600722 + 100189541 ABBA01010093;AC008620;AMYH01015977 trna 34541 MODEL 2300477 TRNAV36P transfer RNA valine 36 (anticodon CAC) pseudogene 1 p36.13 17052061 17052133 + 100189500 ABBA01124276;AL021920;AMYH01000282;NG_008558 1692214 AL033762 pseudo 35075 INFERRED 2300987 TRNAV5 transfer RNA valine 5 (anticodon AAC) MT 180591154 180591226 + 100188990 ABBA01010093;AC008620;AMYH01015977 2154150 116XA3 trna 34542 MODEL 1642404 TRNAV6 transfer RNA valine 6 (anticodon CAC) MT q35.3 180649395 180649467 - 2766931 100049614 ABBA01010096;AC008443;AMYH01015977;M33940 TRV6 trna 33245 MODEL 1604662 TRNAV7 transfer RNA valine 7 (anticodon AAC) 6 MT p22.1 27829158 27829230 - 27721179 27721251 - 3023191 791230 ABBA01038010;AL009179;AMYH01016189;M15782 1854043;2183935;2186733 D6S2284;D6S2285;D6S2286 HtV1;TRV7 trna 33246 MODEL 1604660 TRNAV9 transfer RNA valine 9 (anticodon CAC) 5 MT q35.3 180461859 180461931 - 180529253 180529325 - 3023191 791232 AC008620;M15784 HtV3;TRV9 trna 33248 MODEL 1345720 TRNAW1 transfer RNA tryptophan 1 (anticodon CCA) MT p11.2 1 1 7246 AC103681 TRW trna 12360 1604661 TRNAV8 transfer RNA valine 8 (anticodon AAC) 6 MT p22.1 27726686 27726758 - 27618707 27618779 - 3023191 791231 ABBA01038004;AL031229;AMYH01016189;M15783 1733634 D6S1002 HtV2;TRV8 trna 33247 MODEL 2300929 TRNAW2 transfer RNA tryptophan 2 (anticodon CCA) MT 26331672 26331743 - 100189048 ABBA01066554;AL021917;AMYH01016162 trna 34607 MODEL 2300865 TRNAW3 transfer RNA tryptophan 3 (anticodon CCA) MT 8089676 8089747 + 100189112 ABBA01054901;AC129492;AMYH01008088 trna 34674 MODEL 2300854 TRNAW4 transfer RNA tryptophan 4 (anticodon CCA) MT 8124187 8124258 - 100189123 ABBA01054904;AC135178;AMYH01008088 1698314 RH102697 trna 34685 MODEL 2300806 TRNAW5 transfer RNA tryptophan 5 (anticodon CCA) MT 98898030 98898101 + 100189171 ABBA01053288;AC013418;AMYH01004689 trna 34733 MODEL 2300787 TRNAW6 transfer RNA tryptophan 6 (anticodon CCA) MT 99067307 99067378 + 100189190 AACC02000084;ABBA01013261;AC073063;AMYH01017721;CH236956 trna 34753 MODEL 2300774 TRNAW7 transfer RNA tryptophan 7 (anticodon CCA) MT 19411494 19411565 + 100189203 ABBA01054606;AC004448;AMYH01008234 trna 34766 MODEL 2300668 TRNAW8 transfer RNA tryptophan 8 (anticodon CCA) MT 1 1 100189309 AL139041 trna 34876 2300541 TRNAW9 transfer RNA tryptophan 9 (anticodon CCA) MT 26319330 26319401 - 100189436 ABBA01066554;AL021917;AMYH01016162 trna 35006 MODEL 2300705 TRNAY10 transfer RNA tyrosine 10 (anticodon GUA) MT 26569086 26569176 + 100189272 ABBA01066558;AL121936;AMYH01016163 trna 34835 MODEL 1605137 TRNAY1 transfer RNA tyrosine 1 (anticodon GUA) MT q11.2 21128117 21128210 - 3636257 100009601 ABBA01061234;AL163636;AMYH01005590;M27547 Tyr-tRNA trna 33249 MODEL 2300699 TRNAY11 transfer RNA tyrosine 11 (anticodon GUA) MT 1 1 100189278 AC004932 trna 34842 2300640 TRNAY12 transfer RNA tyrosine 12 (anticodon GUA) MT 26575798 26575887 + 100189337 ABBA01066558;AL121936;AMYH01016163 2166732 D6S2355 trna 34905 MODEL 2300572 TRNAY13 transfer RNA tyrosine 13 (anticodon GUA) MT 21125623 21125716 - 100189405 ABBA01061234;AL163636;AMYH01005590 trna 34974 MODEL 2300553 TRNAY14 transfer RNA tyrosine 14 (anticodon GUA) MT 21121258 21121351 - 100189424 ABBA01061234;AL163636;AMYH01005590 trna 34993 MODEL 2300540 TRNAY15 transfer RNA tyrosine 15 (anticodon GUA) MT 67025602 67025694 + 100189437 ABBA01041869;AC084082;AMYH01018772 trna 35007 MODEL 2300481 TRNAY16P transfer RNA tyrosine 16 (anticodon GUA) pseudogene 15 15 q26.1 68664525 68664597 - 92254302 92254374 - 100189496 ABBA01053080;AC105109;AMYH01006925;NG_008554 pseudo 35071 INFERRED 2300470 TRNAY17P transfer RNA tyrosine 17 (anticodon GUA) pseudogene 7 7 7 q36.1 143722936 143723011 - 149053745 149053820 - 149053745 149053820 - 100189507 AACC02000041;ABBA01033629;AC004941;AMYH01018119;NG_008565 2122962 GDB:1317768 pseudo 35082 INFERRED 1605136 TRNAY2 transfer RNA tyrosine 2 (anticodon GUA) MT q11.2 21131351 21131444 - 3636257 100009602 ABBA01061234;AL163636;AMYH01005590;M27548 Tyr-tRNA trna 33250 MODEL 2300464 TRNAV37P transfer RNA valine 37 (anticodon UAC) pseudogene 6 6 q25.3 157603549 157603623 - 156869046 156869120 - 100189513 ABBA01025563;AL158033;AMYH01016771;NG_008571 pseudo 35088 INFERRED 2300976 TRNAY3 transfer RNA tyrosine 3 (anticodon GUA) MT 21151432 21151520 + 100189001 ABBA01061234;AL163636;AMYH01005590 1717317 RH122149 trna 34558 MODEL 2300955 TRNAY4 transfer RNA tyrosine 4 (anticodon GUA) MT 27273650 27273738 + 100189022 ABBA01045192;AC013472;AMYH01010194 trna 34581 MODEL 2300920 TRNAY5 transfer RNA tyrosine 5 (anticodon GUA) MT 1 1 100189057 AC055822 trna 34616 2300875 TRNAY6 transfer RNA tyrosine 6 (anticodon GUA) MT 67026223 67026311 + 100189102 ABBA01041869;AC084082;AMYH01018772 trna 34663 MODEL 1347704 TRNL tRNA asparagine-like 7215 12325 2300724 TRNAY9 transfer RNA tyrosine 9 (anticodon AUA) MT 219110549 219110641 + 100189253 AC097483 trna 34816 MODEL 2300815 TRNAY7 transfer RNA tyrosine 7 (anticodon GUA) MT 26577332 26577420 + 100189162 ABBA01066558;AL121936;AMYH01016163 trna 34724 MODEL 2300758 TRNAY8 transfer RNA tyrosine 8 (anticodon GUA) MT 26595102 26595190 + 100189219 ABBA01066559;AL513548;AMYH01016163 trna 34782 MODEL 1344231 TRPA1 transient receptor potential cation channel, subfamily A, member 1 The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008] 8 8 q13 73096040 73150373 - 72933486 72987819 - 1580863;6480464 18440147;10066796;19507192;19369549;19237591;19211797;19159452;19074743;19059884;18988737;18954467;18775987;18769139;18671867;18499726;18463259;18456404;22222967;22740698;22426997;21419293;18384850;17571167;17285310;17217068;17164327;16500080;16382100;14712238;9511734;19282836;19507004;19715741;20190512;20194132;20457836;21037510;20547126;20946100;21112285;21133676;21094256;22905134;22863862;21195050;21848366;21930928;21962912;22461626;21981454;22458587;21168271;21993194;23133611;23508958;23345429;23415228;22665484;22843691;23219522 8989 H0YAW0;O75762 ABBA01041953;AC016057;AC022867;AK307942;AMYH01018785;CH471068;NM_007332;Y10601 AAI48424;AAI53004;CAA71610;EAW86986;NP_015628;O75762 Hs.716816 1335415;1753635;2125136;2151457;7184458 D8S2094;D8S279;SHGC-107525;STS-N34377 ANKTM1;FEPS OTTHUMP00000226878;OTTHUMP00000226879;ankyrin-like with transmembrane domains 1;ankyrin-like with transmembrane domains protein 1;transformation-sensitive protein p120;transient receptor potential cation channel subfamily A member 1 APPROVED protein-coding ENSG00000104321 497 09208 604775;615040 REVIEWED 1601688 TRNP1 TMF1-regulated nuclear protein 1 1 1 1 p36.11 25717284 25724466 + 27192782 27199964 + 27320195 27327377 + 6480464 16792503;12477932;23622239 388610 H0YES3;Q6NT89 ABBA01034944;AI366714;AL356390;AMYH01000417;BC069216;CH471059;CK904126;NM_001013642 AAH69216;EAX07778;NP_001013664;Q6NT89 Hs.355747 C1orf225;TNRP OTTHUMP00000224888;OTTHUMP00000230495;TMF regulated nuclear protein;TMF-regulated nuclear protein 1 protein-coding ENSG00000253368 34348 18384 VALIDATED 1350987 TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene 11 11 11 p15.4-p15.3 3659826 3663093 + 3604290 3615365 + 3647690 3658789 + 6480464 17217050;16382100;12631698;12601176;7568191;11290752;12032305;14505576;14699131;20210993 7221 Q3C1U7 AA423920;AB231779;ABBA01032053;ABBA01032054;AC060812;AMYH01003347;NR_002720;X89067 BAE46900 Hs.131910;Hs.690732 1792502;1792504;1793414 PMC152292P2;PMC152292P3;PMC21939P1 APPROVED pseudo ENSG00000182048 12334 VALIDATED 733380 TRNAU1AP tRNA selenocysteine 1 associated protein 1 1 1 1 p35.3 27275295 27300823 + 28752116 28777644 + 28879529 28905057 + 6480464 16508009;16230358;14702039;12477932;21145461;10606267;21987572;21906983;22505724 54952 Q9NX07;Q9UHT1 ABBA01035037;ABBA01035038;ABBA01035039;ABBA01035040;ABBA01035041;ABBA01035042;ABBA01035043;AF118082;AK000510;AK023555;AK300162;AK309481;AL513497;AMYH01000433;BC000680;BC035855;BC039879;BI602122;BQ014404;CH471059;NM_017846;NR_003109 AAF22026;AAH00680;AAH39879;BAA91217;BAH13226;EAX07687;EAX07688;EAX07689;NP_060316;Q9NX07 Hs.533626 2170099;5022578 D1S1423;SHGC-74458 FLJ20503;PRO1902;RP4-669K10.4;SECP43;TRSPAP1 OTTHUMP00000003783;tRNA selenocysteine 1-associated protein 1;tRNA selenocysteine associated protein (SECP43);tRNA selenocysteine associated protein 1;tRNA selenocysteine-associated protein 1 protein-coding ENSG00000180098 30813 18035 VALIDATED 1315734 TROAP trophinin associated protein 12 12 12 q13.12 48510276 48518819 + 48003238 48011781 + 49716971 49725514 + 1580863;6480464 7758945;18218922;16964243;12477932;12049630;10026108;9560222;19060904;21963094;22792062;20360068;21906983;19322201 10024 B7Z5Q9;F8VR46;F8VSF9;F8VVS4;F8VVT5;F8VVX4;F8VXF3;F8VXV6;F8W052;F8W130;F8W1E3;F8W1U0;Q12815 ABBA01031521;AC125611;AK296811;AK299302;AK309716;AK310709;AK315211;AMYH01004441;BC011597;BC018627;BC032583;CD366215;CH471111;DC410015;NM_001100620;NM_001278324;NM_005480;U04810 AAA79333;AAH11597;AAH32583;ABM81833;ABM84486;ABW03299;BAG59384;BAH12995;EAW58062;EAW58063;EAW58064;NP_001094090;NP_001265253;NP_005471;Q12815 Hs.524399 1662448;2162159 RH46877;RH71194 TASTIN OTTHUMP00000241254;OTTHUMP00000241255;OTTHUMP00000241279;OTTHUMP00000241280;tastin;trophinin assisting protein;trophinin-assisting protein (tastin);trophinin-associated protein APPROVED protein-coding ENSG00000135451 12327 04849 603872 VALIDATED 1318871 TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1 The CCA-adding enzyme TRNT1 (EC 2.7.7.25) is an essential enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors. This reaction is a fundamental prerequisite for mature tRNAs to become aminoacylated and to participate in protein biosynthesis (Lizano et al., 2007 [PubMed 17204286]).[supplied by OMIM, Aug 2009] 3 3 3 p25.1 3107764 3129901 + 3143600 3165707 + 3168600 3190707 + 1580863;6480464;7240710 10810093;11504732;11256614;18575231;17204286;16381901;16344560;15489336;15489334;12729736;12477932;11727826;11230166;11076863;20877624;22863883;22939629;18029348;21890473 51095 C9JRS7;F8W8C3;Q96Q11 AB063105;ABBA01020485;AC024060;AF151805;AK290411;AL834397;AMYH01012945;BC005184;BC012537;BQ722111;CH471055;DA884423;DB032432;DB525237;NM_182916 AAD34042;AAH05184;AAH12537;ACE86917;ACE87604;BAB70662;BAF83100;CAD39059;CAL37547;CAL38138;EAW63885;EAW63886;EAW63887;EAW63888;EAW63889;NP_886552;Q96Q11 Hs.732725 1674650;1698148;1704374;2123258;2126731;2127565;2142165 D3S2777E;G29151;RH102607;RH46495;SHGC-34652;SHGC-79700;WI-20982 CCA1;CGI-47;MtCCA CCA tRNA nucleotidyltransferase 1, mitochondrial;OTTHUMP00000195199;OTTHUMP00000206931;OTTHUMP00000207297;mitochondrial CCA-adding tRNA-nucleotidyltransferase;mitochondrial tRNA nucleotidyl transferase, CCA-adding;mt CCA-adding enzyme;mt tRNA CCA-diphosphorylase;mt tRNA CCA-pyrophosphorylase;mt tRNA adenylyltransferase;tRNA-nucleotidyltransferase 1, mitochondrial APPROVED protein-coding ENSG00000072756 17341 18227 580000;612907;613070 VALIDATED 1605121 TRO trophinin This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] X X p11.22-p11.21 54963974 54974589 + 54946996 54957864 + 6480464 7758945;18846386;18078818;17597582;17559068;17495530;17487845;17360433;16713569;16288751;15772651;15162511;14702039;14633596;12878157;12477932;12297480;11454705;10797941;10470851;10026108;9560222;9533028;8889548;8125298;15867431;20237496;16196087;21191175;21139048;21890473;21906983;22201876;11590179;15205339;16344560;17254769;18769125 7216 B1AKE5;B1AKE6;B1AKE7;B1AKE8;B1AKE9;B1AKF1;B1AKF2;B1AKF3;B1AKF4;B1AKF5;B1AKF6;B4DK08;E7ERU6;F5GY27;G5E999;G5E9N2;Q12816;Q9BX88;Q9BX90;Q9BX91 AB029037;ABBA01069577;ABBA01069578;AF349719;AF349720;AF349721;AF349722;AK001300;AK027489;AK027861;AK225841;AK296329;AK299568;AL049732;AMYH01022432;AU279883;BC026914;BM693634;CH471154;DA128814;DB177388;NG_012806;NM_001039705;NM_001271183;NM_001271184;NM_016157;NM_177556;NM_177557;NR_073148;NR_073149;U04811 AAA79334;AAK30170;AAK30171;AAK30172;AAK30173;BAA83066;BAA91609;BAB55149;BAG51387;BAG59020;BAG61509;EAW93200;EAW93201;EAW93202;EAW93203;EAW93204;EAW93205;EAW93206;NP_001034794;NP_001258112;NP_001258113;NP_057241;NP_808224;NP_808225;Q12816 Hs.633653;Hs.743294 1683970;2169541 RH48499;SHGC-31610 KIAA1114;MAGE-d3;MAGED3 MAGE superfamily protein;MAGE-D3 antigen;OTTHUMP00000023387;OTTHUMP00000180628;OTTHUMP00000180629;OTTHUMP00000180630;OTTHUMP00000180636;OTTHUMP00000210922;OTTHUMP00000210923;magphinin;melanoma antigen, family D, 3;trophinin APPROVED protein-coding ENSG00000067445 12326 02134 300132 REVIEWED 734058 TRPC1 transient receptor potential cation channel, subfamily C, member 1 The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 q23 143925956 144009420 + 142443266 142526730 + 1580863;2301838;6480464;6907045;7247596;7247605 18184923;20337661;19439599 12477932;15757897;8663995;8646775;19052258;7568191;19471101;19446005;19307462;19228695;19193631;19168436;18995841;18990707;18843204;18802326;18802022;18644792;18546016;18542994;18506892;18436303;18430726;18420269;18326500;18261457;18249094;18172497;17957383;17920677;17892531;17850866;17348017;17289052;17233611;17224452;17217049;16899508;16870612;16822931;16709572;16551274;16529812;16527499;16382100;16344560;16283206;15972814;15834157;15763245;15654973;15623527;15542611;15347566;15220115;15188402;15105836;15016832;14707123;14706284;14614461;14530267;14505576;12857742;12766172;12736151;12732636;22446186;22451676;22668831;12356946;12196544;12060571;12032305;11983166;11336651;11301024;11290752;11139478;10980191;10970773;10766822;10097141;9215637;7589464;19913121;20515740;20544850;20628086;20187291;19701773;19725137;19749483;19850920;19875453;19897728;19945390;20032510;20093626;20194530;21506118;21408196;21640715;23079337;21749700;21747233;22367186;22932896;22157757;19322201;22474110;23115638;22592407;23049826;20458742;22687694;22744003 7220 H7C508;P48995 AB255425;ABBA01059022;AC022291;AC072028;AI280444;AMYH01013548;BC112338;BC113953;BX331349;CH471052;CS105825;DB185459;EF522961;GQ293239;NG_030369;NM_001251845;NM_003304;X89066 AAI12339;AAI13954;ABP94017;ACT66710;BAF76425;CAA61447;CAJ01296;EAW78963;EAW78964;NP_001238774;NP_003295;P48995 Hs.250687 1661155;1712222;1735248;1797194;1851117;2130877;2177742 Cda01f07;D3S2912E;G54018;RH46321;RH79185;SHGC-36812;TRPC1 HTRP-1;MGC133334;MGC133335;TRP1 OTTHUMP00000214760;OTTHUMP00000214787;TRP-1;short transient receptor potential channel 1;transient receptor potential canonical 1;transient receptor potential channel 1;transient receptor protein 1 APPROVED protein-coding ENSG00000144935 12333 11894 602343 REVIEWED 1312904 TROVE2 TROVE domain family, member 2 1 1 q31 191295376 191327530 + 193028552 193060907 + 1580863;6480464;6907045 18029348;8188321;3200833;17353931;19248095;18056422;17552056;16710414;15964842;15928345;15489334;12477932;12102760;12096904;11251884;10545525;21145461;7829096;7602431;6421292;6201849;3926904;2649513;1999763;1689160;16344560;17289661;1833722;20089705;20131295;20237496;20224770;22939629;21060685;22863883;22114317;21139048;21890473;21906983;10785401 6738 D6RDN1;D6RE09;G5E9R9;H0Y9N5;P10155;Q5LJA0 ABBA01027636;AI433657;AK314594;AL136370;AMYH01001593;AY205314;AY205315;BC036658;BI560207;BQ227323;BX394323;CH471067;CR936683;CX761715;DA518443;J04137;M25077;NM_001042369;NM_001042370;NM_001173524;NM_001173525;NM_004600;NR_033393;S57803;S57805;U44388 AAA35493;AAA35532;AAB81552;AAB81553;AAH36658;AAO47001;AAO47002;ABM82452;ABM85642;BAG37166;EAW91239;EAW91240;EAW91241;EAW91242;EAW91243;EAW91244;EAW91245;EAW91246;EAW91247;NP_001035828;NP_001035829;NP_001166995;NP_001166996;NP_004591;P10155 Hs.288178 1660499;1663606;1711410;1770918;1777186;2141313;5020740;5037552;5107625 D1S3172;D8S2279;G42189;L17809;RH66393;SHGC-76062;SHGC-76066;SHGC-76067;SHGC-76068 RO60;RORNP;SSA2 60 kDa SS-A/Ro ribonucleoprotein;60 kDa ribonucleoprotein Ro;OTTHUMP00000033759;OTTHUMP00000033760;OTTHUMP00000033761;OTTHUMP00000033762;OTTHUMP00000033763;OTTHUMP00000033764;Sjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen SS-A/Ro);gastric cancer multi-drug resistance protein;sjoegren syndrome type A antigen;sjogren syndrome antigen a2 (60kda, ribonucleoprotein autoantigen ss-a/ro) protein-coding ENSG00000116747 11313 15964 600063 VALIDATED 1604862 TRPC6P transient receptor potential cation channel, subfamily C, member 6 pseudogene X;Y X;Y q28;Yq12 57727304 57728405 - 155215011 155215912 - 644218 ABBA01028635;AJ271736;AMYH01023345;NG_005687 TRPC6L pseudo 23270 INFERRED 733150 TRPC4 transient receptor potential cation channel, subfamily C, member 4 This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 13 13 q13.3 37108795 37341935 - 38210773 38443939 - 724705;1580863;6480464 8646775 16254212;19307462;19059308;18048348;18021253;17920677;17217052;17081983;17074721;17031666;16527499;16382100;16344560;16144838;16033767;15757897;15540229;15358862;15146197;12857742;12736151;12477932;12356946;12154080;12032305;11830588;11713258;11290752;11163362;11042129;10980202;10816590;14505576;20574736;20458742;17110928;19725137;19996314;20164195;20379614;20468064;21427121;22457348;23251661;23326517 7223 Q3KR50;Q3MHB9;Q96P04;Q9UIB0 ABBA01021330;ABBA01021331;AF063822;AF063823;AF063824;AF063825;AF175406;AF421358;AF421359;AF421360;AF421361;AF421362;AK312524;AL138679;AL354802;AL356495;AMYH01005043;BC104725;BC105306;BC105641;BC105917;BX648312;CH471075;CN364204;DB258184;DB278337;DB308366;NG_029849;NM_001135955;NM_001135956;NM_001135957;NM_001135958;NM_003306;NM_016179;U40983 AAC50630;AAD51736;AAF22927;AAF22928;AAF22929;AAF22930;AAI04726;AAI05307;AAI05642;AAI05918;AAL24549;AAL24550;AAL24551;AAL24552;AAL24553;BAG35423;EAX08595;EAX08596;EAX08597;EAX08598;EAX08599;EAX08600;EAX08601;NP_001129427;NP_001129428;NP_001129429;NP_001129430;NP_003297;NP_057263;Q9UBN4 Hs.262960 1707900;1757697;2108609;2111760 D13S1648;SHGC-146298;SHGC-82198;TRPC4_8690 HTRP-4;HTRP4;MGC119570;MGC119571;MGC119572;MGC119573;TRP4 OTTHUMP00000018272;OTTHUMP00000018273;OTTHUMP00000018274;OTTHUMP00000018275;OTTHUMP00000018277;hTrp-4;short transient receptor potential channel 4;transient receptor potential 4;transient receptor protein 4;trp-related protein 4 APPROVED protein-coding ENSG00000133107 12336 09154 603651 REVIEWED 6481369 TRPC7-AS1 TRPC7 antisense RNA 1 100874024 AC008661 APPROVED miscrna 40936 733864 TRPC3 transient receptor potential cation channel, subfamily C, member 3 The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 4 4 q27 123019882 123074061 - 122800183 122872909 - 724705;1580490;1580863;6480464;7247603 8646775;15358862;19887786 15327778;12736256;10611319;15744307;15757897;9215637;9368034;19464259;19417689;19260825;19168035;19151765;19136933;19074769;19052171;19043047;19032951;18787184;18755685;18700317;18602918;18478545;18436303;18431718;18276585;18262493;18215135;18177730;17967814;17569672;17360584;17258231;17217051;17023658;16537542;16529812;16484216;16448384;16407161;16382100;16331690;15972814;15834157;15766521;15728370;15654973;15647288;15623527;15489334;15271991;15199065;15104175;14983059;14736881;12970363;12857742;22566418;12736151;12730194;12700192;12606542;12477932;12377790;12356946;12032305;11943785;11524429;9930701;9853757;9535843;9417057;7568191;11290752;14505576;20728215;20677014;19447651;19749484;19812035;20179100;20190511;20190513;20190514;20360250;21215279;21321808;21802402;21757714;22306362;21931279;22438881;22207762;22566504;21603869;21957871;22960861 7222 D6R902;D6RC49;J3QTB0;Q13507 AB255423;AB255424;ABBA01044732;AC079341;AC108930;AMYH01014492;AY865574;BC093682;BC093684;BC143239;CH471056;CS105827;NG_030368;NM_001130698;NM_003305;X89068;Y13758 AAH93682;AAH93684;AAW62292;AAY40971;BAF76423;BAF76424;CAA61448;CAA74083;CAJ01297;EAX05243;NP_001124170;NP_003296;Q13507 Hs.150981 1665705;1765617;2143521;2148321 D4S956;G01966;SHGC-149065;SHGC-51334 TRP3 OTTHUMP00000164084;OTTHUMP00000219929;OTTHUMP00000219991;TRP-3;hTrp-3;hTrp3;short transient receptor potential channel 3;transient receptor potential channel 3;transient receptor protein 3 APPROVED protein-coding ENSG00000138741 12335 15999 602345 REVIEWED 733334 TRPC5 transient receptor potential cation channel, subfamily C, member 5 This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010] X X q23 110904198 111212660 - 111017542 111326004 - 1580863;6480464 17217053;15757897;10493832;18665391;18495872;18172497;17981154;17925457;17884814;17233612;16950785;16382100;16368680;16284075;15772651;15763245;15647288;12858178;12857742;12766233;12736151;12531519;12032305;11301024;11290752;10980202;14505576;22668831;20390293;12477932;19247474;19701773;19815560;20164195;20378846;21127073;21980113;20811636;21734191;22025699;22457348;22988121;21139048;22490661;20458742 7224 Q59G51;Q9UL62 AB209258;ABBA01043227;ABBA01043228;ABBA01043229;ABBA01043230;ABBA01043231;ABBA01043232;ABBA01043233;ABBA01043234;ABBA01043235;ABBA01043236;ABBA01043237;ABBA01043238;ABBA01043239;ABBA01043240;ABBA01043241;ABBA01043242;ABBA01043243;ABBA01043244;ABBA01043245;ABBA01043246;ABBA01043247;ABBA01043248;ABBA01043249;ABBA01043250;ABBA01043251;ABBA01043252;ABBA01043253;ABBA01043254;ABBA01043255;AC005191;AF054568;AL031388;AL049563;AMYH01022843;BC137271;BC137274;CH471120;NG_021215;NM_012471 AAC24563;AAF00002;AAI37272;AAI37275;BAD92495;EAX02630;NP_036603;Q9UL62 Hs.657709 1340778;1340894;1645752;1664664;1668208;1694092;1699932;1701970;1702022;1725201;1767419;2107711;2116186;2124083;2125953;2134151;2152360;2153592;2168260;5115418;7187401 AL008924;AL021628;AL031569;AL035134;DXS1059;DXS1280;DXS1352;DXS7300;DXS7344;DXS7354;DXS7458;DXS8110;DXS8201;DXS8203;DXS8204;L77248;RH103574;RH118893;RH47107;TRPC5__5138 TRP5 OTTHUMP00000023863;TRP-5;hTRP5;short transient receptor potential channel 5;transient receptor potential channel 5;transient receptor protein 5 APPROVED protein-coding ENSG00000072315 12337 02273 300334 REVIEWED 1349355 TRPC7 transient receptor potential cation channel, subfamily C, member 7 5 5 q31.1 135577022 135720974 - 135548999 135701164 - 1580863;6480464 15757897;19240791;18021175;17217055;16741513;16382100;16123040;15972814;15342342;12477932;11805119;11290752;12032305;19812035;20379614;21402151 57113 H0Y2U3;H0Y3E4;H0Y8N3;H0Y9S0;H0YAE7;Q9HCX4 ABBA01068717;ABBA01068718;ABBA01068719;AC008661;AJ272034;AJ421783;AJ549088;AJ549089;AJ549090;AMYH01015630;AY167926;AY167927;BC128185;BC128186;BI826927;CH471062;DR002519;NM_001167576;NM_001167577;NM_020389 AAI28186;AAI28187;AAO12124;AAO12125;CAC03489;CAD19069;CAD70161;CAD70162;CAD70163;EAW62187;EAW62188;EAW62189;EAW62190;EAW62191;EAW62192;NP_001161048;NP_001161049;NP_065122;Q9HCX4 Hs.591263 1339413;1751981;1779372;2123211 D5S393;L28404;SHGC-105956;SHGC-153363 TRP7 OTTHUMP00000221120;OTTHUMP00000221122;OTTHUMP00000221124;OTTHUMP00000221125;TRP-7;hTRP7;likley ortholog of mouse transient receptor potential cation channel, subfamily C, member 7;putative capacitative calcium channel;short transient receptor potential channel 7;transient receptor protein 7 protein-coding ENSG00000069018 20754 18228 VALIDATED 5144676 TRPC5OS TRPC5 opposite strand X 111119279 111147218 + 11181995;12477932;15489334;15772651;16344560 100329135 A6NMA1 ABBA01043243;ABBA01043244;ABBA01043245;ABBA01043246;AC005191;AMYH01022843;BC034811;BF510645;CH471120;DB076612;DB096871;DB458957;NM_001195576;NM_001195577;NM_001195578 A6NMA1;EAX02631;NP_001182505;NP_001182506;NP_001182507 Hs.247868 1699932 RH103574 TRPC5-AS1 TRPC5 antisense RNA 1 (non-protein coding);uncharacterized protein LOC100288395 APPROVED protein-coding 40593 VALIDATED 1320513 TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein 20 20 20 q11.22 30339293 30429447 - 33053868 33144279 - 33590207 33680618 - 6480464 12047747;11133832;11532960;19059308;18449908;16730941;15489334;14585990;12693554;12477932;11780052;9110174;8889548;8619474;21145461;20458742;16876162;16964240;20551172;19389623;18781797;20360068;21900206;21987572;21139048;21890473;21906983;21963094;22703881;22505724 26133 B4DW48;B4E0Q1;E1P5Q0;Q8TEL6 ABBA01019171;ABBA01019172;AF055022;AK074106;AK298958;AK301368;AK303476;AK315582;AL096738;AL117480;AL132825;AMYH01011868;AMYH01011869;BC001323;BC008836;BC013144;BI488542;BM149369;BM723903;CF125531;CH471077;NM_015638;NM_199368 AAH01323;AAH08836;AAH13144;ADZ15551;BAB84932;BAG37955;BAG61054;BAG62910;BAG64513;CAB55953;EAW76229;EAW76230;EAW76231;EAW76232;EAW76233;EAW76234;EAW76235;NP_056453;NP_955400;Q8TEL6 Hs.168073 1646419;1654381;1712294;1774695;2114939;2130007;2146961;2171544;2186683 D18S1331;D20S545E;D20S786;D20S814;G54056;RH15946;RH66097;SHGC-32905;Z94466 C20orf188;TRRP4AP;TRUSS OTTHUMP00000030719;TNF-receptor ubiquitous scaffolding/signaling protein;TRP4-associated protein;short transient receptor potential channel 4 associated protein;short transient receptor potential channel 4-associated protein;trpc4-associated protein;tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein protein-coding ENSG00000100991 16181 09238 608430 VALIDATED 1312607 TRPM1 transient receptor potential cation channel, subfamily M, member 1 This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] 15 15 q13.3 29080829 29181216 - 31293264 31453476 - 6480464;7175561;7175555;7183084;7183085;7240710 21439949;19878917;19896109;19896113 21278253;9806836;16382100;14744763;12477932;11535825;11112417;9537257;8889548;20482673;19396153;19436059;19587221;19721433;19887679;20300565;20346272;23505323;20846719;21290293;21611200;21832182;21896854;22735794 4308 H0YKU7;H0YM61;Q7Z4N3 AB115498;AB115499;AB115500;AB115501;AB115502;ABBA01038323;ABBA01038324;AC009562;AC090829;AF071787;AMYH01006503;BC005892;BC017849;BC033627;BC058286;BC070356;BM695497;BU741333;BU743036;BU933033;CH471216;GQ502181;HM135790;HM135791;N42519;NG_016453;NM_001252020;NM_001252024;NM_001252030;NM_002420 AAC80000;AAH58286;AAI56070;ACV53832;ADJ52077;ADJ52078;BAC80200;BAC80201;BAC80202;BAC80203;BAC80204;EAW61260;EAW61261;EAW61262;EAW61263;EAW61264;NP_001238949;NP_001238953;NP_001238959;NP_002411;Q7Z4N2 Hs.155942;Hs.732541 1666472;1675909;1705330;1740557;2120058;2133932;2150540;2166574;2167428 D15S1124;RH69308;RH98791;SHGC-31211;SHGC-83514;STS-N21111;STS-N30022;STS-N33330;STS-N35472 CSNB1C;LTRPC1;MLSN1 OTTHUMP00000159584;long transient receptor potential channel 1;melastatin 1;melastatin-1;transient receptor potential cation channel subfamily M member 1;transient receptor potential melastatin family APPROVED protein-coding ENSG00000134160 7146 04656 603576;613216 REVIEWED 1347433 TRPC6 transient receptor potential cation channel, subfamily C, member 6 The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009] 11 11 q22.1 100827584 100959869 - 101322295 101454659 - 1580490;1580863;6480464;6484113;7240710;7247583;7247605;7247439;4891135;7247444;7247445;7247580;7247581;7247582;7247443;7247446;7247603;7247440;7247584;7247585;7247596 15358862;23043486;19439599;23535151;20554625;22980509;21839714;15924139;15879175;23435869;23212367;21511817;19887786;23385000;22673147;20811149;20337661 10611319;15757897;9930701;19443836;19414653;19394138;19380626;19260825;19129465;19124028;19074769;19052171;18818211;18800249;18784209;18617565;18506892;18495872;18436303;18258814;18209485;17957383;17872462;17719101;17699555;17684020;17360584;17317623;17217054;17197445;17116414;17081983;16690880;16527499;16439426;16382100;16034470;15998650;15623527;15489334;15362854;15023993;14761972;14702039;14699131;14688372;14662757;12970363;12871853;12857742;12766233;12765698;12736151;12564954;12531519;12477932;12377790;12356946;12351388;12032305;11988098;11290752;10816590;10368108;9925922;14505576;19843708;19458060;19610066;19701218;19701773;19749484;19936226;19940041;20028870;20190513;20306291;20346360;20395377;20540633;20554944;20203293;19961855;20705603;20961851;20346379;10998353;20835261;20533864;21487005;22306362;20728215;23525112;21471003;21734084;21799177;21525431;21757714;21757000;21864503;21980113;22554521;23158989;22493444;22566504;21822655;22000711;22004559;17850865;23570668;23636057 7225 E9PJN4;Q9Y210 ABBA01039957;AF080394;AF086426;AJ006276;AJ007018;AJ271066;AJ271067;AJ271068;AK001960;AK027769;AMYH01003987;AP003079;AP003080;BC093658;BC093660;CH471065;NG_011476;NM_004621 AAC63289;AAH93658;AAH93660;BAG51375;CAA06943;CAC01684;CAC01685;CAC01686;CAC06090;EAW67003;EAW67004;EAW67005;NP_004612;Q9Y210 Hs.159003 1298202;1338308;1653541 D11S1986;D11S2002;SHGC-57985 FLJ11098;FLJ14863;FSGS2;TRP6 OTTHUMP00000236028;OTTHUMP00000236029;OTTHUMP00000236030;OTTHUMP00000236031;TRP-6;short transient receptor potential channel 6;transient receptor protein 6 APPROVED protein-coding ENSG00000137672 12338 04710 603652;603965 REVIEWED 1320558 TRPM6 transient receptor potential cation channel, subfamily M, member 6 This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010] 9 9 q21.13 76527231 76692830 - 77337411 77503010 - 1580863;1599669;6480464;7240710 12032568 18029348;19329436;19149903;19073827;18675813;18660673;18490453;18365021;18301276;18192217;17217065;17098283;16636202;16382100;16150690;16075242;15164053;14976260;14576148;12032570;11357414;10021370;9285786;8125298;20875900;21073857;17575980;19695239;19937979;20395377;20700443;18258429;22982920;22671428;21669885;22733750 140803 F8W9E6;F8WAD9;G8JLG6;G8JLG7;Q5VYG5;Q96LV9;Q9BX84 ABBA01033884;ABBA01033885;ABBA01033886;AF350881;AF448232;AK000094;AK026281;AK057748;AK225207;AL354795;AL390874;AMYH01021416;AY333282;AY333283;AY333284;AY333285;AY333286;AY333287;AY333288;CH471089;NG_017036;NM_001177310;NM_001177311;NM_017662 AAI56138;AAK31202;AAM21562;AAR03487;AAR03488;AAR03489;AAR03490;AAR03491;AAR03492;AAR03493;BAA90941;BAB15429;BAB71558;EAW62553;EAW62554;EAW62555;EAW62556;EAW62557;EAW62558;EAW62559;EAW62560;EAW62561;EAW62562;EAW62563;NP_001170781;NP_001170782;NP_060132;Q9BX84 Hs.272225 1716539;5022578;5491373 D1S1423;FCA763;RH121555 CHAK2;HMGX;HOMG;HOMG1;HSH OTTHUMP00000021487;channel kinase 2;melastatin-related TRP cation channel 6;transient receptor potential cation channel subfamily M member 6 APPROVED protein-coding ENSG00000119121 17995 06112 602014;607009 REVIEWED 1323582 TRPM2 transient receptor potential cation channel, subfamily M, member 2 The protein encoded by this gene is a calcium-permeable cation channel that is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008] 21 21 q22.3 44597912 44687392 + 45773484 45862964 + 1580863;6480464 22493272;9806837;19133961;19004782;18957938;18687688;18599483;18572241;18048770;17940282;17604279;17525977;17251321;17217061;17060318;16822940;16777714;16733555;16719842;16601673;16585058;16565078;16461353;16382100;16316998;16306129;16260005;16252251;16075382;15808509;15708008;15561722;12594222;12564954;12529379;12477932;12377790;12032305;11960981;11804595;11509734;11385575;11290752;10830953;9179495;20587417;19454650;19652898;19749482;19887679;20107186;20237295;20515676;20660597;20650899;20029400;20194125;20799912;21193737;23458684;21602277;21505784;19382906;21890473;21906983;22931549;22547068;22226147;23185472;23302782;22750002;23142700;23443543 7226 C9JZQ8;E9PGK7;O94759 AB001535;AB017549;AB166745;AB166746;ABBA01074163;ABBA01074164;ABBA01074165;ABBA01074166;ABBA01074167;ABBA01074168;AJ417076;AJ878416;AK301101;AK301451;AMYH01012293;AMYH01012294;AP001063;AP001064;AP001065;AP001754;AY603182;BC041570;BC112342;BI755424;BI906484;CH471079;D86107;DQ012935;EU362987;NG_022913;NM_003307;NR_038257;R85260 AAI12343;AAT12288;AAY22174;ACA62700;BAA34700;BAA95563;BAB64300;BAD83705;BAD83706;BAG62700;BAG62975;CAD01139;CAI47593;EAX09426;EAX09427;EAX09428;NP_003298;O94759 Hs.369759 1659194;1772172;1784450;1790609;1790611;1790613;2160471;5492151 D21S1870;SHGC-154943;SHGC-51813;SHGC-87688;STS_CEB243;STS_CEB244;STS_CEB245;Trpm2 EREG1;KNP3;LTRPC2;MGC133383;NUDT9H;NUDT9L1;TRPC7 LTrpC-2;OTTHUMP00000038504;OTTHUMP00000038505;OTTHUMP00000109530;OTTHUMP00000207883;estrogen-responsive element-associated gene 1 protein;long transient receptor potential channel 2;transient receptor potential cation channel subfamily M member 2;transient receptor potential channel 7 APPROVED protein-coding ENSG00000142185 12339 04777 603749 REVIEWED 1312585 TRPM3 transient receptor potential cation channel, subfamily M, member 3 The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 9 9 q21.12 72339769 72926334 - 73149949 73736514 - 6480464 22451665;15824111;19240061;18224337;17233610;17217062;16382100;15550678;15164053;14702039;12672827;12672799;12477932;12107413;12107412;11230166;10997877;8889548;8125298;20834067;21278253;20855565;20401728;20360246;22000496;22961981;23449627 80036 A2A3F3;A2A3F4;A2A3F7;E9PBI7;G5E9G1;H0Y3D4;H7BYP1;Q4VXD4;Q504Y1;Q6NW43;Q86Z01;Q9H200 AB046836;AB099661;AB099662;AB099663;AB099664;AB099665;ABBA01033823;ABBA01033824;ABBA01033825;ABBA01033826;ABBA01033827;ABBA01033828;ABBA01033829;ABBA01033830;ABBA01033831;ABBA01033832;AF325212;AF536748;AF536749;AF536750;AF536751;AF536752;AF536753;AJ505025;AJ505026;AK021788;AK225732;AK308682;AL136545;AL159990;AL161913;AL356318;AL358786;AL442645;AL592438;AMYH01021396;AMYH01021397;AMYH01021398;BC022454;BC067733;BC094699;BC121821;BC134414;BC142972;BM668925;CD104154;CD673832;CH471089;NM_001007470;NM_001007471;NM_020952;NM_024971;NM_206944;NM_206945;NM_206946;NM_206947;NM_206948 AAG42856;AAH22454;AAH67733;AAH94699;AAI21822;AAI34415;AAI42973;AAI72350;AAO49153;AAO49154;AAO49155;AAO49156;AAO49157;AAO49158;BAB13442;BAB13895;BAC55102;BAC55103;BAC55104;BAC55105;BAC55106;CAB66480;CAD43604;CAD43605;EAW62505;EAW62506;EAW62507;EAW62508;EAW62509;EAW62510;EAW62511;NP_001007471;NP_001007472;NP_066003;NP_079247;NP_996827;NP_996828;NP_996829;NP_996830;NP_996831;Q9HCF6 Hs.47288 1299885;1336037;1644542;1645450;1654432;1674268;1696370;1698682;1700378;1701180;1708172;1714973;1716339;1716407;1717731;1728949;1751011;1752549;1763409;1763417;1765347;1779214;2120563;2134772;2149031;2157086;2157088;5015619;5037552;7185365 A006J48;A008R10;D10Bir17;D11S3114;D8S2279;D9S1024E;D9S1142;D9S166;D9S1799;G20886;RH102901;RH103809;RH104218;RH120824;RH121199;RH121384;RH121773;RH12865;RH70161;SHGC-104934;SHGC-106450;SHGC-147125;SHGC-147130;SHGC-148841;SHGC-152822;SHGC-30920;SHGC-7281;SHGC-77815;SHGC-79336 GON-2;LTRPC3;MLSN2 LTrpC-3;OTTHUMP00000021445;OTTHUMP00000021447;OTTHUMP00000122556;OTTHUMP00000122557;OTTHUMP00000122558;OTTHUMP00000122559;OTTHUMP00000122560;OTTHUMP00000122561;OTTHUMP00000122562;OTTHUMP00000122563;OTTHUMP00000215759;long transient receptor potential channel 3;melastatin 2;melastatin-2;transient receptor potential cation channel subfamily M member 3 APPROVED protein-coding ENSG00000083067 17992 10605 608961 REVIEWED 1321629 TRPM5 transient receptor potential cation channel, subfamily M, member 5 This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010] 11 11 11 p15.5 2460552 2479085 - 2382336 2400851 - 2425745 2444275 - 1580863;6480464 10607831;17217064;16382100;15731110;14657398;14634208;12477932;12368808;19773279;20660057;10915772;21133676;21489577 29850 E9PQF7;E9PRW0;Q9NZQ8 ABBA01032091;ABBA01032092;AC124057;AF177473;AJ270996;AMYH01003321;BC093787;BC093789;BC143351;BC143353;CH471158;NM_014555 AAF26288;AAH93787;AAH93789;AAI43352;AAI43354;CAB66342;EAX02514;EAX02515;EAX02516;NP_055370;Q9NZQ8 Hs.272287 2107713 TRPM5_2586 LTRPC5;MTR1 LTrpC-5;MLSN1 and TRP-related;MLSN1- and TRP-related gene 1 protein;OTTHUMP00000011536;OTTHUMP00000229032;OTTHUMP00000229033;OTTHUMP00000229034;long transient receptor potential channel 5;transient receptor potential cation channel subfamily M member 5 APPROVED protein-coding ENSG00000070985 14323 16064 604600 REVIEWED 1348019 TRPM4 transient receptor potential cation channel, subfamily M, member 4 The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] 19 19 q13.33 54352864 54406905 + 49661016 49715098 + 1580863;6480464;7240710 17217063;16806463;16777713;16424899;16407466;16382100;16186107;15845551;15590641;15550671;15472118;15331675;15121803;14758478;14702039;12842017;12799367;12477932;12015988;11535825;19063936;18262493;20562447;19945433;19726882;16344560;17288552;20625999;20884614;23160238;21887725;21139048;21890473;21906983 54795 B4DIX5;M0QX92;M0QYK7;M0QZ19;M0R0H1;M0R3H6;Q8TD43 ABBA01032935;ABBA01032936;ABBA01032937;ABBA01032938;AC008891;AF497623;AJ575813;AK000048;AK000235;AK292862;AK295820;AK307897;AMYH01009911;AY046396;AY297044;AY297045;AY297046;BC132727;BC144122;BC144123;BM857470;CH471177;DA218254;NG_027551;NM_001195227;NM_017636 AAI32728;AAL02142;AAM18083;AAP44473;AAP44474;AAP44475;BAA90907;BAF85551;BAG58637;CAE05941;EAW52460;EAW52461;EAW52462;EAW52463;NP_001182156;NP_060106;Q8TD43 Hs.467101 2127029 SHGC-30695 FLJ20041;PFHB1B;TRPM4B LTrpC-4;LTrpC4;calcium-activated non-selective cation channel 1;hTRPM4;long transient receptor potential channel 4;melastatin-4;transient receptor potential cation channel subfamily M member 4 APPROVED protein-coding ENSG00000130529 17993 09502 604559;606936 REVIEWED 1323571 TRPS1 trichorhinophalangeal syndrome I This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] 8 8 q24.12 116489900 116750402 - 116420724 116681228 - 1599670;1580863;6480464;7240710 10615131 16043716;10974077;16940173;22127049;22306695;18946009;18713754;17854380;17467349;17391059;17081983;16344560;14702039;14680804;12885770;12620233;11950061;11807863;11773701;11359471;11112658;10647898;8530105;2373110;19913121;20628086;20634891;20677014;12477932;19389374;19610100;20177376;20379614;20635356;20394624;21673316;20360068;21761348;21761336;21868360;20686565;22472876;22911880;22190034;22699663;22990118 7227 C9J6L7;E5RFF3;E5RJ97;E7EVN4;F8W8T0;H0YAV4;H0YC29;Q9UHF7 ABBA01037776;ABBA01037777;ABBA01037778;AF178030;AF183810;AF264784;AK000948;AK021470;AK021511;AK304046;AK309357;AMYH01018975;AMYH01018976;BC125020;CH471060;DA399687;NG_012383;NM_014112 AAF23614;AAG21134;AAI25021;BAA91441;BAG64957;EAW91952;NP_054831;Q9UHF7 Hs.657018 1337297;1651089;1655885;1671945;1676860;1695686;1695958;1715877;1726341;1731150;1751251;1771609;2108971;2156443;2173674;7185480 A007K26;D8S547;D8S98;G17280;G62471;RH122672;RH16176;RH99133;SHGC-105098;SHGC-78729;SHGC-78920;STS-H28054;STS-T56980;TRPS1__5142.2;WI-16182 GC79;LGCR;MGC134928 OTTHUMP00000183498;OTTHUMP00000183499;OTTHUMP00000227887;tricho-rhino-phalangeal syndrome type I protein;zinc finger protein GC79;zinc finger transcription factor Trps1 APPROVED protein-coding ENSG00000104447 12340 05091 190350;190351;604386 REVIEWED 1353386 TRPM7 transient receptor potential cation channel, subfamily M, member 7 The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.[provided by RefSeq, May 2010] 15 15 q21 48639782 48766286 - 50849351 50979012 - 632429;1580863;5684390;5685005;5685008;6480464;7240710 11161216;18395621;16051700;19405049 19032368;18675813;10021370;19149903;19145781;18719395;18390554;18365021;18301276;18192217;18073331;18006838;17823441;17785843;17646711;17510191;17310095;17217066;17095511;16943238;16636202;16533898;16436382;16407977;16382100;16357306;16344560;16150690;16075242;15781465;15591230;15489334;15485879;15069188;14976260;14702039;14594813;12887921;12477932;11941371;11385574;22671428;22566504;22301056;22460708;22102510;20875900;15342556;19454490;19515901;19644062;19998500;20070945;20075334;21112387;21122141;21150127;21183474;18826101;21443732;21627970;21926172;22183257;21906983;22308955;22698280;22634382;22759789;22871386;23353055;22323115;22802050;23168410;23166209 54822 H0YLN8;H0YNM0;Q96QT4 ABBA01039106;ABBA01039107;ABBA01039108;AC084756;AF346629;AK000124;AK075193;AK098584;AK172800;AMYH01006639;AY032950;BC028843;BC051024;BC128987;BC128988;BP354541;CH471082;DB127039;NG_021363;NM_017672 AAH51024;AAK19738;AAK44211;BAA90958;BAC11462;BAD18773;EAW77405;EAW77406;EAW77407;EAW77408;EAW77409;NP_060142;Q96QT4 Hs.512894 1700640;1748505;2176842;5015619;5015861;5015961;5020948;5022450;5024761;5037552;7185938 D10S16;D10S275;D11S3114;D15S1477;D8S2279;G35510;RH103943;RH36905;SHGC-131171;WI-12601 ALSPDC;CHAK;CHAK1;FLJ20117;FLJ25718;LTRPC7;TRP-PLIK LTRPC ion channel family member 7;LTrpC-7;channel-kinase 1;long transient receptor potential channel 7;transient receptor potential cation channel subfamily M member 7;transient receptor potential-phospholipase C-interacting kinase APPROVED protein-coding 17994 10418 105500;605692 REVIEWED 732182 TRPM8 transient receptor potential cation channel, subfamily M, member 8 2 2 q37.1 234490782 234592905 + 234826043 234928166 + 1580863;6480464 19234481;22061619;19507192;19404398;19363131;21419293;17521436;17517434;17510704;17428469;17426390;17217067;17142461;17065148;16382100;16174775;15961432;15950184;15947109;15492228;15489334;15306801;12858355;12477932;11893340;11325849;19230823;19159452;19095656;18524940;18485891;18458237;18441098;18440147;18384850;18094254;17604279;22321710;22460725;20482834;20605675;20531306;19482060;19582168;20043080;20110357;20730379;19913121;20587417;20628086;20948964;21052713;21282398;21542321;21666692;21245133;22939629;21290296;21762971;22072275;22128173;22267123;21168271;22238755;22128172;22683712;23185472;23554496;23508958;22042233 79054 A0AVG2;F8WD55;H0Y7P0;H7BZP4;Q7Z2W7 AB061779;ABBA01001951;ABBA01001952;AC005538;AK303811;AMYH01011583;AY090109;AY328400;AY532375;AY532376;BC001135;BC033137;BC126342;BC143819;CH471063;DQ139309;FJ895300;NM_024080 AAH01135;AAI26343;AAM10446;AAP92167;AAS45275;AAS45276;AAZ73614;ACQ66098;BAB86335;BAG64764;EAW71067;EAW71068;NP_076985;Q7Z2W7 Hs.366053 1784258;1799460;1800066;1800514;1800574;1800880;1801040;1801976;1802050;1802928;1803142;1803144;1803330;1803612;1803994;1805028;1805504;1805738;1806024;1806084;1806198;1806200;1806368;1806476;1807642;1807706;1808118;1809432;1810798;1811164;1812050;1812398;1812474;1812766;1813190;1813260;1813752;1813902;1814070;1814164;1814718;1814942;1815110;1815346;1816154;1816242;1816400;1816934;1816936;1817242;1817424;1817426;1817564;1817750;1818014;1818104;1818106;1818696;1819470;1820812;1821008;1821410;1821818;1823002;1823204;1823206;1823702;1823704;1825688;1826612;1826810;1827512;1827682;1828004;1828272;1828552;1828622;1828708;1828914;1829390;1829486;1830084;1831294;1831340;1833218;1833702;1834658;1834792;1835054;1836308;1836990;1837210;1837472;1837530;1838830;1838940;1838982;1840086;1840826;1840904;1841108;1841462;1842282;1842530;1842742;1843374;1843546;1843668;1845856;1854314;1948308;1948310;1948312;1948314;1948316;1948318;1948320;1948322;1948324;1948326;1948328;1948330;1948332;1948334;1948336;1948338;1948340;1948342;1948344;1948346;1948348;1948350;1948352;1948354;1948356;1948358;1948360;1948362;1948364;1948366;1948368;1948370;1948372;1948374;1948376;1948378;1948380;1948382;1948384;1948386;1948388;1948390;1948392;1948394;1948396;1948398;1948400;1948402;1948404;1948406;1948408;1948410;1948412;1948414;1948416;1948418;1948420;1948422;1948424;1948426;1948428;1948430;1948432;1948434;1948436;1948438;1948440;1948442;1948444;1948446;1948448;1948450;1948452;1948454;1948456;1948458;1948460;1948462;1948464;1948466;1948468;1948470;1948472;1948474;1948476;1948478;1948480;1948482;1948484;1948486;1948488;1948490;1948492;1948494;1948496;1948498;1948500;1948502;1948504;1948506;1948508;1948510;1948512;1948514;1948516;1948518;1948520;1948522;1948524;1948526;1948528;1948530;1948532;1948534;1948536;1948538;1948540;1948542;1948544;1948546;1948548;1948550;1948552;1948554;1948556;1948558;1948560;1948562;1948564;1948566;1948568;1948570;1948572;1948574;1948576;1948578;1948580;1948582;1948584;1948586;1948588;1948590;1948592;1948594;1948596;1948598;1948600;1948602;1948604;1948606;1948608;1948610;1948612;1948614;1948616;1948618;1948620;1948622;1948624;1948626;1948628;1948630;1948632;1948634;1948636;1948638;1948640;1948642;1948644;1948646;1948648;1948650;1948652;1948654;1948656;1948658;1948660;1948662;1948664;1948666;1948668;1948670;1948672;1948674;1948676;1948678;1948680;1948682;1948684;1948686;1948688;1948690;1948692;1948694;1948696;1948698;1948700;1948702;1948704;1948706;1948708;1948710;1948712;1948714;1948716;1948718;1948720;1948722;1948724;1948726;1948728;1948730;1948732;1948734;1948736;1948738;1948740;1948742;1948744;1948746;1948748;1948750;1948752;1948754;1948756;1948758;1948760;1948762;1948764;1948766;1948768;1948770;1948772;1948774;1948776;1948778;1948780;1948782;1948784;1948786;1948788;1948790;1948792;1948794;1948796;1948798;1948800;1948802;1948804;1948806;1948808;1948810;1948812;1948814;1948816;1948818;1948820;1948822;1948824;1948826;1948828;1948830;1948832;1948834;1948836;1948838;1948840;1948842;1948844;1948846;1948848;1948850;1948852;1948854;1948856;1948858;1948860;1948862;1948864;1948866;1948868;1948870;1948872;1948874;1948876;1948878;1948880;1948882;1948884;1948886;1948888;1948890;1948892;1948894;1948896;1948898;1948900;1948902;1948904;1948906;1948908;1948910;1948912;1948914;1948916;1948918;1948920;1948922;1948924;1948926;1948928;1948930;1948932;1948934;1948936;1948938;1948940;1948942;1948944;1948946;1948948;1948950;1948952;1948954;1948956;1948958;1948960;1948962;1948964;1948966;1948968;1948970;1948972;1948974;1948976;1948978;1948980;1948982;1948984;1948986;1948988;1948990;1948992;1948994;1948996;1948998;1949000;1949002;1949004;1949006;1949008;1949010;1949012;1949014;1949016;1949018;1949020;1949022;1949024;1949026;1949028;1949030;1949032;1949034;1949036;1949038;1949040;1949042;1949044;1949046;1949048;1949050;1949052;1949054;1949056;1949058;1949060;1949062;1949064;1949066;1949068;1949070;1949072;1949074;1949076;1949078;1949080;1949082;1949084;1949086;1949088;1949090;1949092;1949094;1949096;1949098;1949100;1949102;1949104;1949106;1949108;1949110;1949112;2201616;2201618;2201620;2201622;2201624;2201626;2201628;2201630;2201632;2201634;2201636;2201638;2201640;2201642;2201644;2201646;2201648;2201650;2201652;2201654;2201656;2201658;2201660;2201662;2201664;2201666;2201668;2201670;2201672;2201674;2201676;2201678;2201680;2201682;2201684;2201686;2201688;2201690;2201692;2201694;2201696;2201698;2201700;2201702;2201704;2201706;2201708;2201710;2201712;2201714;2201716;2201718;2201720;2201722;2201724;2201726;2201728;2201730;2201732;2201734;2201736;2201738;2201740;2201742;2201744;2201746;2201748;2201750;2201752;2201754;2201756;2201758;2201760;2201762;2201764;2201766;2201768;2201770;2201772;2201774;2201776;2201778;2201780;2201782;2201784;2201786 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LTRPC6;MGC2849;TRPP8 LTrpC-6;OTTHUMP00000065206;cold/menthol receptor 1;long transient receptor potential channel 6;short form of the TRPM8 cationic channel;transient receptor potential cation channel subfamily M member 8;transient receptor potential p8;transient receptor potential subfamily M member 8;trp-p8 protein-coding ENSG00000144481 17961 09454 606678 VALIDATED 733197 TRPV1 transient receptor potential cation channel, subfamily V, member 1 Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 p13.2 3415490 3459454 - 3468740 3512705 - 634422;1580863;6480464;7175557 9349813;22162417 21168271;22260796;123456;19074743;19056576;19036069;18983665;18852901;18830626;18791833;18787888;18786439;18769453;18584893;18574245;18559878;18552442;18503554;18499726;18482991;18414789;18267041;18230619;18222434;18076848;17927589;17913835;17659837;17626206;17596456;17582772;17567713;17560936;17521436;17508360;17508023;17442052;17442041;17428642;17392452;17385724;17347480;17217056;17184838;17176640;17109831;17016800;17074976;17018028;16996800;16996476;16842630;16793902;16777226;16406364;16382100;16381901;16319926;16301147;16099171;16081411;15992990;15793280;15738111;15708075;15691846;15685214;15644492;15574747;15489336;15306801;15190102;15066994;15051629;14996838;14987252;14630912;14554100;14523239;14520770;14506258;12812762;12808128;12765698;12721390;12573376;12490594;12477932;12454015;12393854;12194871;12077606;11884385;11549313;11358970;11243859;11230166;11226139;11124944;11076863;11050376;10725386;21956871;22327830;22570472;20691059;16115206;17110928;17932042;19161409;19328632;19333172;19397909;19482060;19598235;19608651;19619644;19651168;19656659;19749171;19770677;19778904;19877503;19923855;19959817;20034385;20060270;20096818;20145248;20190512;20351268;20379614;21083604;21037510;20696376;19913121;20456759;20515731;20628086;20639579;20518854;21044960;21076423;21076424;21451044;20807792;21285946;21506114;22556011;22883519;23074220;22518827;22814029;21310942;21345654;21351130;21654202;22691178;19155296;23047628;23123284;23458684;23699529;21546516;21911503;22262838;21160085;21616913;21493704;21951314;22242698;22568077;21555515;21960521;22262885;21926175;21945155;21981454;22647236;22089942;22389490;22566504;22171160;22401740;22443337;22493457;22792722;21962912;22809607;22870787;22936245;22829138;23616546;23279936;23453732;23264624;22935106;23508958;23139219 7442 E7EQ78;E7ESJ2;I3L1R6;J3QK85;Q8NER1 AA700014;ABBA01054740;ABBA01054741;AC027796;AF196175;AF196176;AF235160;AJ272063;AJ277028;AL136801;AMYH01008031;AY131289;AY986821;BC132820;BC136633;BF308801;CH471108;DQ177332;DQ177333;DQ898279;FJ695206;NG_029716;NM_018727;NM_080704;NM_080705;NM_080706 AAG43466;AAG43467;AAI32821;AAI36634;AAM89472;AAN73432;AAX84657;ABA06605;ABA06606;ABI58280;CAB66735;CAB89866;CAB95729;CAL38563;EAW90497;EAW90498;EAW90499;EAW90500;NP_061197;NP_542435;NP_542436;NP_542437;Q8NER1 Hs.579217;Hs.655380 1673730;1690474;1729849;1760219;1763661;2156690;2168602;2178122;5020274 D17S2148;D17S683;L18441;RH94216;SHGC-132503;SHGC-147347;SHGC-33478;SHGC-33552;STS-T82277 DKFZp434K0220;VR1 OTRPC1;capsaicin receptor;osm-9-like TRP channel 1;transient receptor potential cation channel subfamily V member 1;transient receptor potential vanilloid 1a;transient receptor potential vanilloid 1b;vanilloid receptor 1;vanilloid receptor subtype 1 APPROVED protein-coding ENSG00000196689;ENSG00000262304 12716 03648 602076 REVIEWED 1344610 TRPV3 transient receptor potential cation channel, subfamily V, member 3 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] 17 17 p13.2 3363236 3408039 - 3413796 3461289 - 1580863;6480464;7175558;7175554;7183081;7175557;7175556;7175555 21970977;22284622;20042636;22162417;22189789;19878917 21490957;22405088;19209153;18983665;18787888;18178557;17521436;16382100;14702039;12477932;12077606;12077604;12016205;20395302;19864432;21321070;22006988;22475759;21853274 162514 B2KYM6;I3L0L5;I3L402;J3KPJ6;Q8NET8 ABBA01054739;ABBA01054740;AC025125;AC027796;AF514998;AJ487035;AK074032;AK127330;AK127726;AK304768;AMYH01008030;AMYH01008031;AY118267;AY118268;BC104866;BC104868;BC143294;BC143295;BC143299;BC143330;BC143333;BC143334;BC143336;BX537539;CH471108;EU295940;NG_032144;NM_001258205;NM_145068 AAI04867;AAI04869;AAI43295;AAI43300;AAI43331;AAM54027;AAM80558;AAM80559;ACA81614;BAB84858;BAG54484;BAG54559;BAG65523;CAD31711;EAW90502;EAW90503;EAW90504;EAW90505;NP_001245134;NP_659505;Q8NET8 Hs.446255 2107715;5015861;5015879;5016478;5021396;5022578;5092420;5109663;5117897;7185938 D10S16;D1S1423;D7S2067E;G54306;GDB:313783;GDB:314949;GDB:434012;GDB:631813;TRPV3__5144 OLMS;VRL3 OTTHUMP00000115863;VRL-3;transient receptor potential cation channel subfamily V member 3;vanilloid receptor 3;vanilloid receptor-like 3;vanilloid receptor-related osmotically activated channel protein APPROVED protein-coding 18084 06141 607066;614594 REVIEWED 1349455 TRPT1 tRNA phosphotransferase 1 11 11 11 q13.1 61318113 61320578 - 63747847 63750257 - 63991271 63993726 - 6480464 16344560;16189514;15489334;14504659;12477932;8889548;17207965;21832049;22939629;19953087;21784300;23128233 83707 F5H1K3;F5H6B6;F5H8A0;H0YGY9;Q86TN4 ABBA01003289;AK026364;AMYH01003702;AP005668;AP006334;AW771318;AY211494;BC005133;BG105545;BM982538;BQ672032;BQ674339;CH471076;DA822624;DR004975;NM_001033678;NM_001160389;NM_001160390;NM_001160392;NM_001160393;NM_031472 AAH05133;AAO62941;ADQ32835;EAW74201;EAW74202;EAW74203;NP_001028850;NP_001153861;NP_001153862;NP_001153864;NP_001153865;NP_113660;Q86TN4 Hs.326586 2138103;2185863 RH41986;WI-16915 MGC11134 OTTHUMP00000237038;OTTHUMP00000237040;OTTHUMP00000237336;OTTHUMP00000237493;tRNA 2'-phosphotransferase 1;tRNA splicing 2' phosphotransferase 1 protein-coding ENSG00000149743 20316 17479 610470 VALIDATED 1346359 TRPV2 transient receptor potential cation channel, subfamily V, member 2 This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008] 17 17 p11.2 16259613 16281042 + 16318856 16340317 + 70055;1580863;6480464 10201375 22327830;18983665;18787888;17977643;17081065;16882997;16777226;16533525;16382100;15489334;15249591;14702039;12765698;12765693;12477932;12093812;12077606;10887936;20686800;20926660;14991772;16115206;19482060;19619644;20093382;20103638;20113837;21506114;23453732;21890473;21906983;23542034;21574765;23294145;23426965 51393 H7BZK2;J3QKR1;K7EIQ6;K7EKG5;K7ELL3;K7EPY7;Q9Y5S1 A94121;ABBA01035652;AC093484;AF103906;AF129112;AJ487963;AK001896;AK289705;AMYH01008149;AX023769;BC018926;BC051305;CH471222;NM_016113 AAD26363;AAD41724;AAH18926;AAH51305;ABM84533;ABM86071;BAF82394;BAG50989;CAB70426;CAD32310;EAX04507;EAX04508;EAX04509;NP_057197;Q9Y5S1 Hs.279746 1680519 RH91543 MGC12549;VRL;VRL-1;VRL1 OTRPC2;OTTHUMP00000064964;osm-9-like TRP channel 2;transient receptor potential cation channel subfamily V member 2;vanilloid receptor-like protein 1 APPROVED protein-coding ENSG00000187688 18082 05980 606676 REVIEWED 1343325 TRVP1 tRNA valine (CAC) pseudogene 1 1457046 7242 12356 1352535 TRVP2 tRNA valine pseudogene 2 1457046 7243 12357 1348632 TRVP3 tRNA valine pseudogene 3 1457046 7244 12358 1345860 TRVP4 tRNA valine (AAC) pseudogene 4 1457046 7245 12359 1350143 TRPV5 transient receptor potential cation channel, subfamily V, member 5 This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008] 7 7 q35 142315770 142340942 - 142605648 142630820 - 6480464;7204689 20716668 19131347;16239475;12765698;15665527;15489237;19453261;19295174;19261737;19157541;19140341;18703016;18596722;18305097;18077461;17233615;17217059;17018846;16564089;16382100;16291808;16189514;16044309;12690205;12660155;12477932;12390878;12198212;12093812;12077606;11846401;11765215;11719848;11549322;10945469;10944439;20178461;16763551;19423690;20405023;20547482;21035851;21187068;21063097;20686800;21576356;21952826;22354706;23024298 56302 E9PBZ6;H7C2J6;Q9NQA5 AACC02000106;ABBA01034131;AC073079;AC099652;AF304464;AJ271207;AJ401155;AJ487965;AMYH01018007;AY206695;BC034740;CH236959;CH471198;NM_019841 AAH34740;AAL04015;AAO13488;CAB96365;CAC08182;CAD32312;EAL23777;EAW51896;NP_062815;Q9NQA5 Hs.283369 1755605;2107717;2144184;2159386 RH18225;SHGC-142460;SHGC-33735;TRPV5__5145 CAT2;ECAC1;OTRPC3 ECaC;OTTHUMP00000211572;OTTHUMP00000211602;calcium transport protein 2;calcium transporter 2;epithelial calcium channel 1;osm-9-like TRP channel 3;transient receptor potential cation channel subfamily V member 5 APPROVED protein-coding ENSG00000127412 3145 05981 606679 REVIEWED 731367 TRPV6 transient receptor potential cation channel, subfamily V, member 6 This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Jul 2013] 7 7 q34 142279082 142293599 - 142568960 142583490 - 1580863;6480464;7204689 20716668 17550901;17233615;17217060;17197020;17002582;16717058;16574738;16564089;16529812;16382100;16356545;16210335;16189514;15894168;15647288;15582993;15192090;15020691;14736889;14604453;14534305;12869611;12765698;12765696;12690205;12660155;12601087;12584203;12477932;12390878;12361955;12138163;17587679;15184369;11278579;19295174;19169858;19140341;19056662;18445599;18395250;18392847;18301763;18276610;18245667;12011062;11744752;11719848;11549322;11545681;11248124;11208552;11097838;22378746;20178461;21146870;16763551;19779013;19857260;20041238;20405023;20684323;20730379;21228504;20948163;22932896;22589201;21349844;22807578;21400627;21810903;21732366;22163264;20843805;22354706;23300090;11401523;11846401;21290300;22331416 55503 C9J9W0;C9JHY1;Q9H1D0 AACC02000106;ABBA01034130;ABBA01034131;AC104597;AC239618;AF304463;AF365927;AF365928;AJ243500;AJ243501;AJ277909;AJ487964;AK075103;AK075206;AK291707;AMYH01018007;AW137696;AY203947;AY225461;BC007094;BC034814;BC113101;CH236959;CH471198;NM_018646;U82613;X83877 AAB40152;AAG41951;AAH34814;AAI60161;AAL40230;AAM00356;AAO38052;AAP34470;BAC11402;BAC11471;BAF84396;CAA58757;CAB92352;CAC20416;CAC20417;CAD32311;EAL23776;EAW51897;EAW51898;EAW51899;NP_061116;Q9H1D0 Hs.302740 1767279;1772274;1849132;2121313;2136893;2182407 G31055;GDB:1318282;GDB:4585747;IB201;RH71266;SHGC-52550 ABP/ZF;CAT1;CATL;ECAC2;HSA277909;LP6728;ZFAB Alu-binding protein with zinc finger domain;OTTHUMP00000211574;caT-L;caT-like;calcium channel CaT1;calcium transport protein 1;calcium transporter-like protein;epithelial apical membrane calcium transporter/channel CaT1;epithelial calcium channel 2;transient receptor potential cation channel subfamily V member 6 APPROVED protein-coding ENSG00000165125 14006 05982 606680 REVIEWED 1604803 TRPV4 transient receptor potential cation channel, subfamily V, member 4 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] 12 12 q24.1 108705277 108755595 - 110220892 110271212 - 6480464;7240710 18458941;12724311;16293632;11025659;15753126;19359599;19279160;19232556;19066426;19033444;19027987;18983665;18845910;18787888;18682435;18587396;18552442;18378772;18355916;18343379;18307101;18305162;18284852;18174177;17932042;17521436;17374521;17233610;17217058;16627472;16537379;16403833;16382100;16368742;15489334;15489228;15075247;14517216;12692122;12538589;12477932;12354759;12093812;12077606;11827975;11160995;11094154;11081638;10717675;15692563;22814746;17620599;22689561;22851605;22327830;22374181;20650893;10463355;16344560;17110928;19661060;19666518;19701771;19749483;20037586;20037587;20037588;20043876;20190511;20392266;20460441;21115951;20399209;20425821;20888819;20577006;20503319;20605796;20639579;21262839;22791502;21506114;23086916;21288981;21454511;21339821;21493730;23690576;23049542;21245013;21658220;21573172;21336783;21964574;22140047;22187434;21685934;22689196;23143559;21964829;21996372;23000965;23333822;20301462;22101010;22675077;22300296;22617546;22526352;23288842;23306656;23108102;22882778;22702953 59341 F5H6Q4;Q8NG64 AB032427;AB073669;AB100308;ABBA01005076;ABBA01005077;ABBA01005078;ABBA01005079;ABBA01005080;AC007834;AF258465;AF263523;AF279673;AJ296305;AL834192;AMYH01004738;BC117426;BC143307;BC143315;CH471054;DA869138;DQ059644;DQ059645;DQ059646;NG_017090;NM_001177428;NM_001177431;NM_001177433;NM_021625;NM_147204 AAG16127;AAG28029;AAI17427;AAI43316;AAK69487;AAZ04918;AAZ04919;AAZ04920;BAB69040;BAC06573;BAC55864;CAC82937;EAW97878;EAW97879;NP_001170899;NP_001170902;NP_001170904;NP_067638;NP_671737;Q9HBA0 Hs.506713 1698868;2128758;5492359;7186758 D12S105;D12S1329;RH102999;Trpv4 CMT2C;HMSN2C;OTRPC4;SMAL;SPSMA;SSQTL1;TRP12;VR-OAC;VRL-2;VRL2;VROAC OSM9-like transient receptor potential channel 4;OTTHUMP00000240659;OTTHUMP00000240660;OTTHUMP00000240662;OTTHUMP00000240663;OTTHUMP00000240664;OTTHUMP00000240665;osm-9-like TRP channel 4;osmosensitive transient receptor potential channel 4;transient receptor potential cation channel subfamily V member 4;transient receptor potential protein 12;vanilloid receptor-like channel 2;vanilloid receptor-related osmotically activated channel APPROVED protein-coding ENSG00000111199 18083 05667 113500;156530;168400;181405;184095;184252;600175;605427;606071;606835;613508 REVIEWED 1318307 TRUB1 TruB pseudouridine (psi) synthase homolog 1 (E. coli) Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] 10 10 10 q25.3 110427071 110466559 + 116687942 116727429 + 116697952 116737439 + 6480464 15489334;15164054;12736709;12477932;8125298;21145461;16385451;21832049;19471022;21139048 142940 Q8WWH5 ABBA01062969;AF448144;AK026721;AK125554;AK223567;AK302800;AK312805;AL355340;AMYH01003090;BC030601;BX648479;BX648709;CH471066;NM_139169 AAH30601;AAL40350;ABM81813;ABM84969;BAD97287;BAG35663;BAG54213;BAG64002;CAH10560;EAW49463;NP_631908;Q8WWH5 Hs.21187 1655955;1672147;1676322;2115505 A004M41;RH66196;RH68108;STS-Z39556 PUS4 OTTHUMP00000020554;probable tRNA pseudouridine synthase 1 APPROVED protein-coding ENSG00000165832 16060 18229 610726 VALIDATED 1346955 TRUB2 TruB pseudouridine (psi) synthase homolog 2 (E. coli) Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] 9 9 9 q34.11 101722300 101735601 - 130111217 130124518 - 131071396 131084697 - 1580863;6480464 12736709;12477932;9110174;8619474;15489334;15164053;14702039;20186120;20360068;21890473;23251661 26995 B7Z7G5;O95900 ABBA01043875;ABBA01043876;AF131848;AJ420462;AK001956;AK301986;AL359091;AMYH01021743;BC001457;CH471090;NM_015679 AAD20059;AAH01457;ABM83082;ABM86277;BAA92001;BAH13601;EAW87770;EAW87771;EAW87772;EAW87773;NP_056494;O95900 Hs.632685 1697972;2158654;2158656;2158658;5127678 A005T04;G20474;RH102515;STS-F04536;WI-20444 CLONE24922;RP11-339B21.1 OTTHUMP00000022257;probable tRNA pseudouridine synthase 2 APPROVED protein-coding ENSG00000167112 17170 18230 610727 PROVISIONAL 1313479 TRRAP transformation/transcription domain-associated protein This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] 7 7 q21.2-q22.1 98314049 98448775 + 98476113 98610866 + 6480464 9708738;11418595;10966108;18206972;14966270;9885574;11564863;10373431;19066453;17967892;17694078;16382133;16344560;16341205;15711126;15649435;15647280;15302935;14702039;12963728;12853948;12743606;12690205;12660246;12601814;12477932;12138177;12077335;11931763;11839798;11509179;11445536;11406595;10611234;16407974;12015309;12738788;16260778;15115762;16387653;16494529;17643375;17761535;18347063;19615732;20085741;20379614;16510874;20427287;21499247;11511539;15932940;16510875;16705173;18250150;18418385;19454010;19818711;21822266;20937768;23318449;17308053;17375202;17846119;19553677;20332121;20070254;20508642;20534441;20946988;15899866;22939629;17314511;18029348;22288532;22467210;22586326;22623531;19471022;21139048;21890473;21906983;21320693;20943076;12897156;21653943;21828133;18160036;21145461;18838386;23044487 8295 C9K0N1;F2Z2U4;H0Y4W2;Q9Y4A5 AACC02000085;AB209489;ABBA01045696;AC004893;AC004991;AF076974;AF110377;AL050077;AMYH01017719;BC032759;BQ006165;CH236956;CH471091;DA113420;NG_030010;NM_001244580;NM_003496 AAC27675;AAC62433;AAD04629;AAD09420;AAH32759;BAD92726;EAL23887;EAW76693;EAW76694;EAW76695;EAW76696;EAW76697;EAW76698;EAW76699;EAW76700;NP_001231509;NP_003487;Q9Y4A5 Hs.203952;Hs.706926 1335214;1644963;1647060;1659676;1707182;1723747;1770599;1772877;1789294;2120732;2132200;2144885;2183160;7185529 A008I35;D7S2365;D7S651;G67873;GDB:3754978;GDB:4585297;GDB:4585656;GDB:4585763;NIB217;RH118609;SGC31237;SHGC-79175;WI-17093 FLJ10671;PAF350/400;PAF400;STAF40;TR-AP;Tra1 350/400 kDa PCAF-associated factor;OTTHUMP00000197292;OTTHUMP00000197293;OTTHUMP00000197294;OTTHUMP00000197295;tra1 homolog;transformation/transcription domain-associated protein APPROVED protein-coding ENSG00000196367 12347 04310 603015 REVIEWED 736947 TSC1 tuberous sclerosis 1 This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] 9 9 q34 134756557 134809841 - 135766735 135820020 - 1624197;1625616;1624196;1580863;2308795;6480464;6484113;6907045;7240710 15380067;16885148;9242607;19339977 10806479;12226091;17308101;10915759;11175345;16996505;9580671;15314020;10585443;15589136;16636147;19175396;19058789;19005330;18926585;18830229;18794346;18794342;18772611;18538015;18480009;18413730;18411301;18397877;18368626;18342602;18032745;17997379;17717601;17522300;17378684;17376623;17355907;17304050;17287951;17273797;17114181;16940165;16909113;16897363;16554133;16344560;16339216;16258273;16211238;15963462;15798777;15647351;15624760;15595939;15477556;15324660;15072102;15059224;14985384;14756965;14680818;14633685;14559897;14551205;12894220;12853839;12820960;12773163;12773162;12773159;12766909;12477932;12271141;12176984;12167664;12112044;12062115;12015165;11829138;11774213;11741833;11686512;11444800;11307618;11112665;10607950;10570911;10533067;10227394;9924605;9809973;9328481;9039502;17658474;17077083;16424383;15851026;15340059;14651849;12511557;11741832;11290735;10807585;18381890;12147258;15342917;17043358;15355997;16464865;22923433;22318606;22490766;20658316;21329690;20383465;21309039;20605525;20819778;21048031;12869586;17693255;19169254;19357198;19419980;19422538;19747374;19918125;19966866;20146692;20185476;20371605;20453000;20877415;20562859;20547222;20301399;22795129;22903760;23455924;21345208;21712385;21412983;21559457;21709159;21243421;22025691;21784859;15851513;17979178;20368287;23275563;21449900;21906983;22161988;23254740;23401075;22608477;23169238 7248 B7Z604;Q32NF0;Q86WV8;Q92574 AA215977;AB190910;ABBA01032478;ABBA01032479;AF013168;AF234185;AF274228;AF274229;AK297326;AK299654;AK303030;AK308412;AL445645;AMYH01021792;BC047772;BC070032;BC108668;BC121000;BI463204;CH471090;D87683;DA726552;N63914;NG_012386;NM_000368;NM_001162426;NM_001162427 AAC51674;AAF61948;AAH47772;AAH70032;AAI08669;AAI21001;AAI67824;AAK60415;AAK60416;BAA13436;BAD91314;BAH12548;BAH13090;BAH13883;EAW88021;NP_000359;NP_001155898;NP_001155899;Q92574 Hs.370854 1683213;1757157;1793000;1857768;1857770;2107719;2120840;2162036;2186060 D9S1916;D9S2005;PMC18172P1;RH35815;RH98742;SHGC-144586;STS-D87683;STS-H11389;TSC1__5147 KIAA0243;LAM;MGC86987;TSC OTTHUMP00000022439;OTTHUMP00000198378;hamartin;tuberous sclerosis 1 protein;tumor suppressor APPROVED protein-coding ENSG00000165699 12362 05594 191100;605284;606690;607341 REVIEWED 1604756 TSACC TSSK6 activating co-chaperone 1 1 1 q22 129380041 129389722 + 154573727 154583410 + 156307105 156316786 + 6480464 16710414;16189514;15489334;12477932;20139978;20829357 128229 Q96A04 ABBA01016662;AK311950;AL589685;AMYH01001437;AY048672;AY048673;BC014605;CH471121;NM_144627 AAH14605;AAL07513;AAL07514;ABM82179;ABM85365;EAW52964;EAW52965;EAW52966;NP_653228;Q96A04 Hs.534539 C1orf182;MGC26877;RP11-443G18.5;SIP;SSTK-IP OTTHUMP00000025730;OTTHUMP00000025733;SSTK-interacting protein;SSTK-interacting protein (SSTK-IP);TSSK6-activating co-chaperone protein;uncharacterized protein C1orf182 APPROVED protein-coding ENSG00000163467 30636 10252 PROVISIONAL 1354310 TSC3 tuberous sclerosis 3 7250 12364 5687462 TSC22D1-AS1 TSC22D1 antisense RNA 1 13 q14.11 45150032 45154568 + 12477932 641467 ABBA01021232;AL356107;AMYH01005083;BC036219;BC040675;NG_029852;NR_038381 Hs.624196 5022200 L18426 APPROVED miscrna 43684 VALIDATED 6483759 TSEN15P1 TSEN15 tRNA splicing endonuclease subunit pseudogene 1 17 p11.2 17359741 17360570 + 100288179 ABBA01009760;AC073621;AMYH01008158;NG_030099 APPROVED pseudo 43962 INFERRED 1602336 TSC22D2 TSC22 domain family, member 2 3 3 3 q25.1 148539824 148590663 + 151609478 151660321 + 150126788 150177631 + 6480464 18029348;15489334;12665801;12477932;9734811;20149264;23382044;21906983;22479202 9819 H0Y865;H0Y8E9;H7C4U3;O75157 AB014569;ABBA01058926;ABBA01058927;AC018545;AF201290;AF201291;AF201292;AK297383;AK297748;AMYH01013574;BC036355;BC044643;CH471052;NM_014779 AAG41223;AAG41224;AAG41225;AAH44643;BAA31644;BAG59824;BAG60098;EAW78837;EAW78838;EAW78839;EAW78840;EAW78841;NP_055594;O75157 Hs.722470;Hs.730710 1666282;1679043;1775100;2121530;2139372;5094789 AAT071;D20S995;SHGC-57438;SHGC-77462;SHGC-77469;STS-D20422 KIAA0669;TILZ4a;TILZ4b;TILZ4c OTTHUMP00000216356;OTTHUMP00000216357;TSC22 domain family 2;TSC22 domain family protein 2;TSC22-related-inducible leucine zipper protein 4 protein-coding ENSG00000196428 29095 11101 PROVISIONAL 6483693 TSEN2P1 TSEN2 tRNA splicing endonuclease subunit pseudogene 1 4 q34.2 176415736 176417964 + 9847074 391718 ABBA01070403;AC105925;AMYH01014728;NG_009835 APPROVED pseudo 43965 INFERRED 1604401 TSC22D1 TSC22 domain family, member 1 This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] 13 13 q14 43905658 44048701 - 45006279 45150701 - 6480464 17353931;9022669;18325344;18288391;17690703;16169070;16106424;15881652;15489334;14702039;12767908;12757981;12477932;12468551;12056414;11944908;11836610;11095965;10488076;9026990;8651929;1587811;17622752;22870275;22808956;16712791;20149264;20936779;20802130;18355271;22863883;21448135;15146197;21078624;21791611;21900206;21987572;21881999;21890473;21906983 8848 A8K3Y6;C9IZ15;C9JYW3;H7C4J9;Q15714 AB082525;ABBA01021232;AF256226;AJ222700;AK027071;AK091854;AK290751;AK312345;AL138960;AL139184;AL356107;AMYH01005082;AMYH01005083;BC000456;BC009528;BC016867;BC069207;BC105277;BC136475;BC136482;BC146664;BC146679;BF307401;BG703493;BI463370;CB138090;CH471075;CN344671;CR456711;CR627459;D38585;D87061;HI574174;NG_029852;NM_001243797;NM_001243798;NM_001243799;NM_006022;NM_183422;U35048;X97299 AAC50566;AAG53077;AAH00456;AAH16867;AAH69207;AAI05278;AAI36476;AAI36483;AAI46665;AAI46680;BAA07598;BAB46917;BAC02703;BAF83440;BAG35266;BAG52429;CAA10951;CAG32992;CAH10539;CBX47576;EAX08710;EAX08711;NP_001230726;NP_001230727;NP_001230728;NP_006013;NP_904358;Q15714 Hs.436383 1338776;1659616;1717979;1736362;1751645;1759689;1788212;1788214;1798300;1849311;1854865;2111536;2111662;2111710;2111712;2138226;2155181;2178058 D13S1158;D13S1272;D13S1505;D13S1584;D13S1620;D13S1622;D13S757;D13S869E;G67437;G67453;IB1310;RH122816;RH48616;SHGC-105637;SHGC-150889;TSC22_2182;WI-13180;WI-18898 DKFZp686O19206;MGC17597;Ptg-2;RP11-269C23.2;TGFB1I4;TSC22 OTTHUMP00000018338;OTTHUMP00000214990;TGFB-stimulated clone 22 homolog;TGFbeta-stimulated clone 22;TSC22 domain family 1, isoform 2;TSC22 domain family protein 1;cerebral protein 2;regulatory protein TSC-22;transcriptional regulator TSC-22;transforming growth factor beta 1 induced transcript 4;transforming growth factor beta-1-induced transcript 4 protein;transforming growth factor beta-stimulated protein TSC-22 APPROVED protein-coding 16826 07414 607715 REVIEWED 736193 TSC2 tuberous sclerosis 2 Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 16 16 p13.3 2037991 2078714 + 2097990 2138713 + 1304267;1580097;1580517;1580518;1580519;1580520;1580521;1625616;625610;2308795;6480464;6484113;6907045;7240710 12511557;15150271;14612383;16341938;15066998;12869586;10823953;16885148;7651821;19339977 12147258;22090422;10807585;10735580;10732801;10607950;10570911;10533067;10206124;10205261;10069705;10052455;9831664;9829910;9463313;9361032;9302281;8933518;8825048;8824881;8789450;8634701;8269512;7823706;7608212;7581393;7558029;1870099;1303246;17658474;17077083;16424383;16339216;14651849;11741832;11175345;18298802;15261145;16959574;16357142;9045618;9580671;10585443;12364343;8806680;16636147;17114346;15314020;15589136;19443708;19357198;19332694;19265534;19250671;19175396;19086053;19058789;19005330;18974095;18958173;18926585;18848473;18794346;18794342;18538015;18451215;18411301;18381890;18368626;18342602;18320306;18302728;18094073;18085521;18060739;18032745;17989114;17975002;17922028;17888633;17671177;17632432;17592551;17470459;17458623;17373211;17304050;17287951;17273797;17234746;17114181;17081983;17018601;16940165;16905638;16897363;16835931;16624901;16554133;16537497;16388022;16344560;16258273;16237225;16213898;16211238;16192644;16053916;15963462;15874888;15851513;15851026;15798777;15647351;15624760;15616553;15595939;15579767;15489334;15477556;15355997;15340059;15231735;15175323;15072102;15059224;15024740;14985384;14871804;14756965;14702039;14690447;14680818;14559897;14551205;12894220;12842888;12820960;12773163;12773162;12773159;12766909;12752578;12711473;12582162;12581886;12547695;12477932;12468542;12438239;12271141;12176984;12172553;12167664;12150915;12127687;12062115;12015165;11836366;11811958;11781698;11741833;11703097;11686512;11403047;11290735;11112665;10915759;14561707;15757502;15342917;15854902;12771962;17043358;17353931;11533041;16464865;22889411;21332470;22456611;22490766;21846442;20834067;21309039;20622004;20658316;21329690;20605525;21048031;15161933;17163575;18807177;19259131;19395678;19419980;19422538;20145209;20146692;20160076;20201926;20219685;20354165;20453000;9809973;20530489;20818424;20304964;18029348;21036916;20363874;20042714;20639436;21145542;20671064;17693255;21252315;22707510;22939629;21345208;21407201;21412983;20237422;21533174;16196087;21134130;21555252;22903760;15039427;22795129;15324660;18624398;20882401;21243421;21900206;21910228;19389623;20618440;21784859;21139048;21449900;21890473;21906983;21949787;21987572;21900748;21419848;21795849;22287548;22189265;17979178;21963094;22251200;23251661;23348097;23254740;22505724;22608477 7249 B4DIL8;C9JX95;H3BMQ0;H3BNT5;H3BQK4;H3BQY7;I3L134;I3L3B1;P49815;Q5HYF7 AB014460;AB210000;ABBA01030275;ABBA01030276;ABBA01030277;ABBA01030278;ABBA01030279;AC005600;AC093513;AK022401;AK094152;AK125096;AK295672;AK295728;AK299343;AMYH01007047;BC025364;BC046929;BC150300;BF194994;BM966762;BX647816;CH471112;DA316794;DB288276;L48522;L48531;L48537;L48538;L48542;L48546;NG_005895;NM_000548;NM_001077183;NM_001114382;S82474;X75621 AAB37376;AAB41564;AAC34210;AAH25364;AAH46929;AAI50301;BAA32694;BAE06082;BAG52831;BAG54139;BAG58530;BAG58569;BAG61344;CAA53287;CAI46010;EAW85556;EAW85557;EAW85558;EAW85559;EAW85560;NP_000539;NP_001070651;NP_001107854;P49815 Hs.90303 1657305;1743957;1775147;1789871;2112836;2131219;2157424;2191119;5014556;5020948;5109673 D16S3361;D16S3394;D8S1350E;G35510;GDB:378419;MARC_14857-14858:1010755319:1;RH48126;RH68414;SHGC-30026;STS-L48546;csnpnthl1-pcr1-1 FLJ43106;LAM;TSC4 OTTHUMP00000158940;OTTHUMP00000198394;OTTHUMP00000198395;tuberin;tuberous sclerosis 2 protein APPROVED protein-coding ENSG00000103197 12363 01850 191092;191100;606690;613254 REVIEWED 1601955 TSC22D4 TSC22 domain family, member 4 TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008] 7 7 7 p21-p15 94793941 94806701 - 99902078 99914838 - 100064142 100076902 - 6480464 16189514;16713569;10488076;18029348;15489334;12690205;12508107;12477932;11707329;19615732;21059936;20149264 81628 A8MWR6;H7BZ77;H7C0M8;Q9Y3Q8 AACC02000084;ABBA01013210;AC092849;AJ133115;AK296580;AK297702;AK314824;AMYH01017735;BC001486;BC001966;BC002972;BC010406;BC011974;BC031622;CH236956;CH471091;NM_030935 AAH01486;AAH01966;AAH02972;AAH10406;AAH31622;ABM82194;ABW03368;BAG59200;BAG60060;CAB43491;EAL23831;EAW76527;EAW76528;EAW76531;NP_112197;Q9Y3Q8 Hs.469798 1658827;2157572 RH11690;RH65683 THG-1;THG1;TILZ2 OTTHUMP00000196701;OTTHUMP00000196702;TSC22 domain family 4;TSC22 domain family protein 4;TSC22-related-inducible leucine zipper protein 2;tsc-22-like protein THG-1 APPROVED protein-coding ENSG00000166925 21696 18231 611914 PROVISIONAL 1605734 TSC22D3 TSC22 domain family, member 3 The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids and interleukin 10, and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid and chemokine. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] X X q22.3 106843107 106905673 - 106956451 107019017 - 6480464 22539300;8982256;19380724;19260870;18499442;18468809;17956870;17356131;16216878;16189514;15705665;15489334;15031210;14702039;12671681;12477932;12393603;12391160;11688842;11468175;11397794;11313722;11230166;9110174;8619474;19814803;19875485;20018851;20947508;20970683;16196087;21512757;20124407;21556028;21750716;22137507;20671745;21726808;21906983;21988832;23440419;19322201;21804606;23650723;22832853 1831 D6R8Z7;D6R9J1;D6RAX8;D6RBL1;D6RCK9;D6RD37;D6RD92;D6RDZ7;D6RDZ9;E7EWD5;Q5JRJ0;Q5JRJ2;Q99576 AB025432;ABBA01035929;ABBA01035930;ABBA01035931;ABBA01035932;ABBA01035933;ABBA01035934;ABBA01035935;AF153603;AF183393;AF228339;AK092645;AK092669;AK127938;AK300535;AK311834;AL110191;AL590423;AMYH01022832;AY007119;BC018148;BC072446;BM047061;BQ919216;BX647854;CH471120;CR533450;CR933650;NM_001015881;NM_004089;NM_198057;Z50781 AAD41085;AAD56234;AAG12456;AAH18148;AAH72446;ACE86573;ACE87256;BAB18680;BAC03934;BAG34776;BAG52587;BAG54599;BAG62243;CAA90644;CAB53669;CAG38481;CAI45951;EAX02704;EAX02705;EAX02706;EAX02707;EAX02708;NP_001015881;NP_004080;NP_932174;Q99576 Hs.522074 1658324;1849351;2141431 A002D16;RH18204;WI-18699 DIP;DKFZp313A1123;DSIPI;GILZ;TSC-22R;hDIP DSIP-immunoreactive leucine zipper protein;DSIP-immunoreactive peptide;OTTHUMP00000023810;OTTHUMP00000023811;OTTHUMP00000023813;OTTHUMP00000023814;OTTHUMP00000217940;OTTHUMP00000217948;OTTHUMP00000217950;OTTHUMP00000217951;TSC-22 related protein;TSC-22-like protein;TSC-22-related protein;TSC22 domain family protein 3;delta sleep inducing peptide, immunoreactor;delta sleep-inducing peptide immunoreactor;glucocorticoid-induced leucine zipper protein APPROVED protein-coding ENSG00000157514 3051 04266 300506 REVIEWED 1318440 TSEN15 TSEN15 tRNA splicing endonuclease subunit tRNA splicing is a fundamental process required for cell growth and division. SEN15 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM, Mar 2008] 1 1 1 q25 157131745 157154281 + 182287469 182309969 + 184020811 184043346 + 6480464 15231747;18391951;17166513;16341674;16189514;15489334;15231748;15109492;14702039;12477932;11318611;20546612;16712791;17207965;20360068;21139048;20881960 116461 B1ALV0;E9PPN1;F2Z3M0;H0YCV5;Q8WW01 ABBA01027742;AF288394;AK098196;AK296655;AK307241;AL157943;AL158011;AMYH01001555;BC022030;BG285158;BM789892;BM887891;CB158796;CH471067;NM_001127394;NM_052965;NR_023349 AAG60614;AAH22030;ADQ33166;BAG53590;BAG59252;EAW91173;EAW91174;EAW91175;NP_001120866;NP_443197;Q8WW01 Hs.548197 1689602;1710648;1776579 RH65755;RH98331;SHGC-81038 C1orf19;sen15 OTTHUMP00000033516;OTTHUMP00000228759;OTTHUMP00000228760;OTTHUMP00000228761;OTTHUMP00000228762;SEN15 homolog;hsSen15;tRNA splicing endonuclease 15 homolog;tRNA-intron endonuclease Sen15;tRNA-splicing endonuclease subunit Sen15 APPROVED protein-coding ENSG00000198860 16791 12292 608756 VALIDATED 1603298 TSEN2 TSEN2 tRNA splicing endonuclease subunit This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009] 3 3 3 p25.2 12463261 12512159 + 12501028 12549812 + 12525931 12574820 + 6480464;7240710 17495927;16344560;15489334;15345747;15146197;15109492;14702039;12477932;12421765;8889548;8125298;18029348;17207965;22863883;20360068;22219177;20301773 80746 B7Z355;C9J7Z4;H7C2Z3;H7C301;Q8NCE0 ABBA01025203;AC018500;AC090947;AK027821;AK074794;AK225875;AK291183;AK295508;AK300449;AMYH01012986;BC004178;BC004211;BC019582;BC021975;BM671402;BX641631;CH471055;CN341716;CQ783684;DA063377;DA484093;DA614108;NG_011521;NM_001145392;NM_001145393;NM_001145394;NM_001145395;NM_025265 AAH04178;AAH04211;AAH19582;AAH21975;ADQ32388;BAC11213;BAF83872;BAH12091;BAH13287;CAF86810;EAW64127;EAW64128;EAW64129;EAW64130;NP_001138864;NP_001138865;NP_001138866;NP_001138867;NP_079541;Q8NCE0 Hs.335550 1700610;1705960;1778286;2113744;5037552 AB056364;D8S2279;RH103927;SHGC-30233;SHGC-79688 MGC2776;MGC4440;PCH2B;SEN2;SEN2L OTTHUMP00000160187;OTTHUMP00000207746;OTTHUMP00000207747;OTTHUMP00000207748;OTTHUMP00000207749;hsSen2;tRNA-intron endonuclease Sen2;tRNA-splicing endonuclease subunit Sen2 APPROVED protein-coding ENSG00000154743 28422 10576 608753;612389 REVIEWED 731470 TSGA10 testis specific, 10 2 2 q11.2 98980781 99124469 - 99613724 99771187 - 1580863;6480464 11179690;18000009;16406020;16344560;16189514;15107545;12477932;16777103;21198756;20797700;21926972 80705 B7Z925;B8ZZZ9;F8WA32;Q9BZW7 ABBA01073951;ABBA01073952;ABBA01073953;ABBA01073954;ABBA01073955;ABBA01073956;ABBA01073957;ABBA01073958;ABBA01073959;AC019097;AC092587;AC110083;AF254756;AK304328;AK313354;AMYH01010803;AMYH01010804;AY014284;BC028366;BI562202;BX647157;CH471127;DB085678;DC396566;NM_025244;NM_182911 AAH28366;AAK13079;AAK27309;AAY14820;ABM83039;ABM86233;BAG36156;BAH14161;EAX01888;EAX01889;EAX01890;EAX01891;EAX01892;NP_079520;NP_878915;Q9BZW7 Hs.120267 1687918;1768679;1768681;2145642 D2S1309;RH93557;WI-18450;WI-18495 CEP4L;CT79 OTTHUMP00000161217;OTTHUMP00000203282;OTTHUMP00000203283;OTTHUMP00000203284;OTTHUMP00000203285;cancer/testis antigen 79;testis development protein NYD-SP7;testis-specific gene 10 protein protein-coding ENSG00000135951 14927 06202 607166 VALIDATED 1346501 TSGA10IP testis specific, 10 interacting protein 11 11 11 q13.1 63037039 63051374 + 65469691 65484010 + 65713115 65727434 + 6480464 14702039;12477932 254187 Q3SY00 ABBA01024094;ABBA01024095;AK057442;AMYH01003727;AP006287;BC104021;BC104022;BC104023;CH471076;HC007354;HC044723;NM_152762 AAI04023;AAI04024;BAB71488;CBH19482;CBH30691;EAW74473;NP_689975;Q3SY00 Hs.350671 FAM161C;FLJ32880;MGC120465;MGC120466;MGC120468 testis-specific protein 10-interacting protein;tsga10-interacting protein protein-coding 26555 08147 VALIDATED 1602635 TSEN54 TSEN54 tRNA splicing endonuclease subunit This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009] 17 17 q25.1 71024204 71032415 + 73512609 73520820 + 6480464;7240710 17495927;18711368;15489334;15109492;14702039;12477932;21383226;20956791;22990118;20360068;21468723;21900206;21906983;20301773;22505724 283989 E7EN92;J3KRC5;J3QLM6;J3QRQ5;J9JIH8;Q7Z6J9 ABBA01028787;AC100787;AK094466;AK097583;AMYH01008635;BC045551;BC047793;BC053643;BE247638;BE251582;BX424294;CV810347;NG_013041;NM_207346 AAH47793;AAH53643;BAC04362;BAG53490;NP_997229;Q7Z6J9 Hs.378501 FLJ37147;PCH2A;PCH4;SEN54L;sen54 SEN54 homolog;hsSen54;tRNA-intron endonuclease Sen54;tRNA-splicing endonuclease subunit Sen54 APPROVED protein-coding ENSG00000182173 27561 12291 225753;277470;608755 REVIEWED 1354192 TSHRL1 thyroid stimulating hormone receptor-like 1 7254 12374 1344012 TSHRL2 thyroid stimulating hormone receptor-like 2 7255 12375 1346495 TSHRL3 thyroid stimulating hormone receptor-like 3 7256 12376 1348893 TSEN34 TSEN34 tRNA splicing endonuclease subunit This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009] 19 19 19 q13.4 51735803 51740078 + 59386009 59389338 + 54694119 54698394 + 6480464;7240710 15489334;15109492;14702039;12477932;10941842;8889548;8125298;18711368;22863883;21139048;21906983;20360068;21987572;20301773;21963094;23251661 79042 A9C4B9;B0V3J0;E7EQB3;Q9BSV6 ABBA01068172;AC012314;AF211970;AK025929;AK054944;AK225385;AK226013;AK300054;AMYH01009976;BC000944;BC004530;BC020805;BE779123;BM977824;CA437038;CH471135;CU151838;CU457734;DB463309;NG_015810;NG_033045;NM_001077446;NM_024075 AAH04530;AAH20805;ABM84262;ABM87651;BAB15284;BAG61863;EAW72203;EAW72204;EAW72205;EAW72206;EAW72207;NP_001070914;NP_076980;Q9BSV6 Hs.15580 1650179;1652570;1652572;1669075;1669077;1810246;1813092;1815738;1818876;1819246;1828238;2041668;2041670;2041672;2041674;2041676;2041678;2041680;2041682;2041684;2041686;2041688;2041690;2041692;2041694;2041696;2041698;2041700;2041702;2041704;2041706;2041708;2041710;2041712;2041714;2041716;2041718;2041720;2041722;2041724;2041726;2103678;2103680 A006I07;D19S1136;D2S2694;ECD06115;ECD07565;ECD08907;ECD10502;ECD10690;ECD15244;G20833;REN91871;REN91872;REN91873;REN91874;REN91875;REN91876;REN91877;REN91878;REN91879;REN91880;REN91881;REN91882;REN91883;REN91884;REN91885;REN91886;REN91887;REN91888;REN91889;REN91890;REN91891;REN91892;REN91893;REN91894;REN91895;REN91896;REN91897;REN91898;REN91899;REN91900;RH65563;stSG605860;stSG605862 LENG5;PCH2C;SEN34;SEN34L OTTHUMP00000069330;OTTHUMP00000069331;OTTHUMP00000069332;OTTHUMP00000069333;OTTHUMP00000082767;hsSen34;leukocyte receptor cluster (LRC) member 5;leukocyte receptor cluster member 5;tRNA-intron endonuclease Sen34;tRNA-splicing endonuclease subunit Sen34 APPROVED protein-coding 15506 10038 608754;612390 REVIEWED 1346120 TSFM Ts translation elongation factor, mitochondrial This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] 12 12 12 q14.1 57834139 57854561 + 56462826 56476784 + 58176528 58196639 + 1580863;6480464;7240710 7615523;18029348;17033963;16632485;16583711;15489334;12477932;10965106;8889548;20877624;20843780;22939629;21988832;22904065;21741925;21139048;21890473;21906983 10102 C9JG32;C9JT21;E5KS95;F8VPA7;F8VS27;F8W6R3;F8WCK2;P43897 ABBA01026693;ABBA01026694;AC025165;AF110399;AK295323;AK304621;AK308981;AK313453;AMYH01004525;BC022862;BC093068;BM980630;CH471054;DB448773;HQ205906;HQ205907;HQ205908;HQ205909;HQ205910;HQ205911;HQ205912;HQ205913;HQ205914;HQ205915;HQ205916;HQ205917;HQ205918;HQ205919;HQ205920;HQ205921;HQ205922;HQ205923;HQ205924;HQ205925;HQ205926;HQ205927;HQ205928;HQ205929;HQ205930;HQ205931;HQ205932;HQ205933;HQ205934;HQ205935;HQ205936;HQ205937;HQ205938;HQ205939;HQ205940;HQ205941;HQ205942;HQ205943;HQ205944;HQ205945;L37936;NG_016971;NM_001172695;NM_001172696;NM_001172697;NM_005726 AAC37577;AAD20224;AAH22862;AAH93068;ADP91774;ADP91775;ADP91776;ADP91777;ADP91778;ADP91779;ADP91780;ADP91781;ADP91782;ADP91783;ADP91784;ADP91785;ADP91786;ADP91787;ADP91788;ADP91789;ADP91790;ADP91791;ADP91792;ADP91793;ADP91794;ADP91795;ADP91796;ADP91797;ADP91798;ADP91799;ADP91800;ADP91801;ADP91802;ADP91803;ADP91804;ADP91805;ADP91806;ADP91807;ADP91808;ADP91809;ADP91810;ADP91811;ADP91812;ADP91813;BAG58300;BAG65403;EAW97075;EAW97076;EAW97077;EAW97078;NP_001166166;NP_001166167;NP_001166168;NP_005717;P43897 Hs.632704 1678041;1856037;2108973;2166322;2184523 A006V17;RH45892;RH91309;SHGC-37617;TSFM_9041 COXPD3;EF-TS;EF-Tsmt;EFTS;EFTSMT OTTHUMP00000202979;OTTHUMP00000202980;OTTHUMP00000202982;OTTHUMP00000202983;OTTHUMP00000243913;OTTHUMP00000243914;elongation factor Ts, mitochondrial;mitochondrial elongation factor Ts APPROVED protein-coding ENSG00000123297 12367 05285 604723;610505 REVIEWED 1349732 TSG101 tumor susceptibility gene 101 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008] 11 11 p15 18458434 18505065 - 18501858 18548503 - 1600429;1580863;2291848;2291849;2291852;2291854;2291847;2291851;2298534;2291856;4892619;6480464;6907045;7240710 9019400;10930114;10618725;10505033;10027311;17369844;10600297;17606716;9444960;19535733 20372822;10888872;12029088;15033475;17350572;15611048;15126635;18029348;19362095;19282983;19143632;18676680;18367816;18077552;17940959;17853893;17556548;17428861;17321722;17229889;17182691;17110434;17060450;17014699;16707569;16571837;16552148;16407257;16344560;16256744;16189514;16138902;16004603;15908698;15858022;15657031;15509564;15489334;15256501;15240819;15218037;15143060;15053872;15039775;14991575;14761944;14581576;14581525;14526201;14519844;14505570;14505569;12927808;12915533;12900395;12900394;12802020;12743307;12725919;12663786;12598123;12559917;12505256;12477932;12388682;12379843;12205095;12101421;12006492;11943869;11916981;11838966;11805336;11726971;11595185;11427703;11172000;11134028;10508170;10440698;9840940;9465061;9366528;9242438;9241265;9241264;17083721;16470130;16940516;16808324;16571793;16234236;15795524;18321968;19158374;14556380;13679614;14722278;15342556;20504928;18256029;18600204;19060904;19170196;19520058;19625176;19692168;19692479;20331378;20399684;15452250;21706016;21988832;23000965;23217182;23408603;12767222;16778200;19549727;19787439;20720181;21304933;22315426;21528537;11031247;21117030;16434471;22939629;19808888;21113135;15604093;19703557;20360068;20654576;21880841;21455631;21139048;21191027;21890473;16973552;17174262;17538020;18641129;18643869;18948538;19542561;20691033;20929444;21070952;21159863;22318606;22348143;20301425;15163754;16118794;17182674;18439901;21757351;23222715;23383273;17320394;22768867;15168195;17942528;17982468;18005716;18267010;18789977;19020832;19053244;19064259;19099395;19143627;19244744;19380743;19401538;19802344;19914066;20012524;20018238;20088757;20427536;20712566;21110817;21152581;21505419;21643473;21666754;21762796;21762798;21841072;21875593;22004035;22291694;22405001;22421880;22675076;22754649;22761998;22797925;23027949 7251 F5H442;J3QKS4;J3QRU6;Q99816 ABBA01061053;ABBA01061054;ABBA01061055;AC027544;AK130787;AMYH01003425;AMYH01003426;AMYH01003427;AU138453;AY207473;AY207474;BC002487;BP347883;CB528488;CH471064;NG_012138;NM_006292;U82130 AAC52083;AAH02487;AAO59169;AAO59170;ABM83718;ABM87038;EAW68381;EAW68382;EAW68383;EAW68384;EAW68385;EAW68386;NP_006283;Q99816 Hs.523512 1664891;1665319;1701538;1735002;1797050;1848354 D11S2247E;D11S4280;D20S528E;RH104402;SHGC-37252;YWHAB__1218 TSG10;VPS23 ESCRT-I complex subunit TSG101;OTTHUMP00000236661;OTTHUMP00000236662;tumor susceptibility gene 101 protein;tumor susceptibility protein APPROVED protein-coding ENSG00000074319 15971 03229 114480;601387 REVIEWED 1347301 TSIX TSIX transcript, XIST antisense RNA In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. [provided by RefSeq, Jul 2008] X X X q13.2 73295516 73332546 + 73012040 73049066 + 73012040 73049066 + 6480464 12610550;12023758;11743158;11555794;10737800;10192391;7566098 9383 AA357843;ABBA01059641;ABBA01059642;ABBA01059643;ABBA01059644;AL353804;AL356513;AL683895;AMYH01022611;AV731454;NR_003255;U80460 Hs.529901 1701860;1702488;1742043;1744455;1775022;1793614;1793616;2118761;2138767;2141630;2147599;2182034;2182036;7184007 1206;A006G16;DXS7717;DXS8235;DXS9733;G20784;GDB:190003;GDB:265297;GDB:454788;PMC24149P16;PMC24149P17;RH18196;RH47941 LINC00013;NCRNA00013;XIST-AS;XIST-AS1;XISTAS APPROVED miscrna ENSG00000270641 12377 300181 REVIEWED 1314383 TSGA13 testis specific, 13 7 7 7 q32 125101322 125119243 - 130004026 130021946 - 130353486 130371406 - 6480464 14962666;14702039;12690205;12477932;17207965 114960 C9JIG7;C9JVS7;Q96PP4 AACC02000027;ABBA01057581;ABBA01057582;ABBA01057583;AC009274;AC234644;AF294347;AF431815;AK093329;AMYH01017938;BC038415;CH236950;CH471070;HC007356;NM_052933 AAH38415;AAK97089;AAP97305;ADQ31603;BAG52691;CBH19483;EAL24084;EAW83771;EAW83772;NP_443165;Q96PP4 Hs.592266 5015619;5022578;5022651 D11S2921;D11S3114;D1S1423 OTTHUMP00000207094;OTTHUMP00000207095;OTTHUMP00000207096;testis-specific A13;testis-specific gene 13 protein protein-coding ENSG00000213265 12369 11650 PROVISIONAL 737021 TSHR thyroid stimulating hormone receptor The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 14 14 q31 80491622 80682399 + 81421869 81612646 + 1580775;1580776;1580777;1580744;1580863;6480464;6907045;7240710 10199795;12558129;8796147;11566956 18528812;18514160;18497944;18466076;18441013;18390987;18381815;18379122;18306976;18175146;18162522;18074395;18025759;17953807;17938324;17932107;17902201;17803697;17725428;17697008;17696839;17570630;17526952;17521325;17456567;17408423;17408420;17392608;17079233;17042691;16955277;16899458;16756474;16756473;16756469;16513835;16320156;16150909;16106256;16060907;15911145;8552586;7920658;19550078;19527514;19499991;19492584;19453261;19417038;19386596;19351817;19328414;19244275;19240155;19178511;19158199;19066298;19019335;19015922;18989620;18976153;18927215;18925838;18818748;18768899;18759693;18727713;18710471;18694911;18681856;18652889;18606720;15889138;15879364;15779008;15741259;15531543;15498884;15384882;15345720;15319351;15297445;15163335;14759073;14725684;14654252;14633662;14576174;12960016;12933676;12930595;12813025;12804102;12790806;12788902;12762632;12727856;12709678;12668683;12629076;12593721;12589819;12477932;12432093;12383251;12242030;12240901;12223484;12213664;12081236;12050212;12045258;12039695;11981027;11923470;11923469;11917095;11887032;11847099;11814624;11716047;11716039;11549687;11517004;11502179;11442002;11434721;11201847;11128715;11127522;11095460;11081252;11081251;11022192;10946859;10870027;10852462;10809230;10720030;10651846;10595453;10560955;10487707;10037070;10037069;9854118;9837919;9589634;9525885;9398746;9360555;9349581;9329388;9294132;9253356;9185526;9100579;9062474;8964822;8954020;8770884;8747461;8636266;8496155;8413627;8327473;8188646;8045989;7989485;7800007;7647578;7565801;7556878;7528344;21155717;21247981;7508946;7488864;2610690;2558651;2302212;2293030;2249482;1955520;1697467;1651314;1570295;1530609;1445355;15775968;18627427;19187127;14604818;18240029;19214582;19506388;19633293;19641516;19730683;19820021;19826830;19837933;19896111;19955180;20336923;20379614;19438904;20691434;20719860;20392871;20179143;20429628;12036966;19636218;20538910;20926595;17207965;20140262;20716560;20615127;20395239;20652618;20718767;20929407;21106880;21124799;20846293;21186955;21846801;21714466;21714469;22666732;20117998;21525174;21586576;21283701;21430027;21989446;21863340;21525003;23336574;21677036;21677043;22673349;21642385;21745101;21707688;21830127;22128326;21490078;19850743;21117863;21841780;22289392;22309849;21834684;21705666;21773967;22438231;22517745;22589738;22049173;23329763;22175420;21597314;22074661;22112806;22405933;22876533;20535589;22291442;22313426;22792265;23592747;22815044;22781452;23118423 7253 F5GYU5;G3V381;Q0VAP8;Q9UPH3 AB065589;AB209207;ABBA01030612;ABBA01030613;AC007262;AC010072;AC010582;AF035261;AL136040;AMYH01005901;AMYH01005902;AY429111;BC009237;BC024205;BC063613;BC108653;BC120972;BC120973;BC127628;BC127629;BC141970;CH471061;M31774;M32215;M73747;NG_009206;NM_000369;NM_001018036;NM_001142626;R51015;S45272;S49816;S82807 AAA36783;AAA61236;AAA70232;AAB23390;AAB24246;AAB87990;AAD31568;AAF09032;AAF26775;AAH09237;AAH24205;AAH63613;AAI08654;AAI20973;AAI20974;AAI27629;AAI41971;AAI56780;AAR07906;ADQ32529;BAC05818;BAD92444;EAW81333;NP_000360;NP_001018046;NP_001136098;P16473 Hs.160411 1751571;1783132;1797002;2111061;2113868;2118495;2141157;2141291;2150712;2152791;2163378;2179097;5093846 A009X38;D14S1228;D14S248E;G32959;G35751;RH44680;RH66833;RH70226;SGC33437;SHGC-105515;SHGC-172293;TSHR;TSHR_736 CHNG1;LGR3;MGC75129;hTSHR-I OTTHUMP00000246010;OTTHUMP00000246011;OTTHUMP00000246013;OTTHUMP00000246014;TSH-R;seven transmembrane helix receptor;thyroid stimulating hormone receptor, isoform 2;thyroid stimulating hormone, receptor;thyroid-stimulating hormone receptor;thyrotropin receptor;thyrotropin receptor-I, hTSHR-I APPROVED protein-coding ENSG00000165409 12373 04537 603372;603373;609152 REVIEWED 732605 TSHB thyroid stimulating hormone, beta The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 p13 115373938 115378464 + 115572415 115576941 + 1580863;1624160;6480464;6907045;7240710 7956715 11788671;2792087;19364510;19273570;17954417;16216492;16133148;15489334;15297803;15292359;14671302;12477932;12364478;11549695;11297590;11140838;9589689;8670056;8636437;8196184;5002675;3839756;3243440;3234176;2558651;2457586;1971148;1692298;890569;18240029;19730683;19837933;18577758;4368999;17207965;12036966;20534762;20553196;20838640;20826543;20455884;22278420;10884185;12438673;1310694;1321428;1396343;1512415;15198300;15300985;16804796;1695807;1710792;1811097;19936667;23345094;2369842;2558646;2768233;290;3145219;7776983;8441852;8838148;9285205;9589662;21981142;8416675;22752807 7252 P01222 ABBA01068472;AL109660;AMYH01000968;AY402762;BC069298;CH471122;CQ873165;CS120870;M21023;M21024;M23669;M23670;M23671;M25164;NG_015891;NM_000549;NM_001277991;S51112;S70587;X02866;X02867 AAA36782;AAA61235;AAB05845;AAB24571;AAB30828;AAH69298;ADQ32900;CAA26618;CAA26619;CAH56880;CAJ15134;EAW56626;NP_000540;NP_001264920;P01222 Hs.406687 1740803;2166625;2218846;5494049 D1S3459;SHGC-75364;TSHB__5149;UniSTS:480813 CHNG4;TSH-B;TSH-BETA OTTHUMP00000013654;TSH-B;thyroid-stimulating hormone subunit beta;thyrotropin beta chain;thyrotropin beta subunit;thyrotropin subunit beta APPROVED protein-coding ENSG00000134200 12372 11766 188540;275100 REVIEWED 1314877 TSHZ3 teashirt zinc finger homeobox 3 19 19 19 q12 28459559 28533885 - 36457691 36532030 - 31765851 31840190 - 6480464 17081983;16381901;15489336;15146197;12477932;11230166;11076863;10819331;20877624;18029348;19343227;19734545;19745106;21423795;21543328;21829377 57616 A1L0U7;Q63HK5 AB040907;ABBA01039576;ABBA01039577;AC025809;AI015687;AK291466;AK293267;AL136805;AMYH01009684;BC127095;BC127096;BX648745;CN256026;NM_020856 AAI27096;AAI27097;BAA95998;BAF84155;BAG56797;CAB66739;CAH56184;CAL38448;NP_065907;Q63HK5 Hs.278436 1656461;1661956;1673560;1688428;1722307;2145383 CHLC.GCT2C12;G60069;RH46365;RH65085;RH99014;WI-15249 FLJ54422;KIAA1474;TSH3;ZNF537 OTTHUMP00000196559;teashirt 3;teashirt family zinc finger 3;teashirt homolog 3;zinc finger protein 537 protein-coding ENSG00000121297 30700 18351 614119 VALIDATED 1353516 TSHZ2 teashirt zinc finger homeobox 2 20 20 20 q13.2 48293566 48816556 + 51022284 51537372 + 51588946 52111869 + 6480464 16344560;15561718;14702039;12477932;11780052;9671742;19913121;20628086;19343227;19745106;19862010;20379614;11181995;21423795 128553 Q9NRE2 ABBA01052841;ABBA01052842;ABBA01052843;ABBA01052844;AF230201;AK091206;AK302570;AL050316;AL109930;AL121902;AL354772;AL354993;AL391097;AMYH01011991;AY926481;BQ574274;BX276189;BX486483;BX640770;BX648148;CH471077;CS300680;DA647113;NM_001193421;NM_173485 AAF76850;AAI60051;AAX10026;BAC03610;BAH13747;CAE45871;CAK32344;EAW75583;EAW75584;NP_001180350;NP_775756;Q9NRE2 Hs.473117 1339918;1341316;1341359;1648118;1654477;1664710;1667179;1669972;1670919;1688742;1695878;1695906;1704016;1705046;1706364;1713401;1764975;1770620;1774692;1846539;2124167;2128113;2161140;2167740;2168420;2175300;2183415;5037552;5116968;7184474 AL022262;D20S1020;D20S183;D20S854;D20S902;D8S2279;G01520;RH119557;RH36244;RH47901;RH65195;RH69807;RH78528;SGC31010;SHGC-148530;SHGC-56787;SHGC-77795;SHGC-78041;SHGC-78826;SHGC-78862;SHGC-80749;WI-16697;Z94375;Z94392;Z94409;Z94627;Z94675;Z94682;ha3002 C20orf17;DKFZp686K2480;FLJ33887;OVC10-2;TSH2;ZABC2;ZNF218 OTTHUMP00000031714;cell growth-inhibiting protein 7;ovarian cancer-related protein 10-2;serologically defined colon cancer antigen 33 like;teashirt family zinc finger 2;teashirt homolog 2;zinc finger protein 218 protein-coding ENSG00000182463 13010 10730 614118 VALIDATED 1323269 TSHZ1 teashirt zinc finger homeobox 1 This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012] 18 18 18 q22.3 69741400 69820597 + 71051719 71130889 + 72922710 73001905 + 6480464;7240710 18029348;17586487;14702039;12477932;9610721;8889548;8125298;19343227;20379614;23568457;16344560;21874228;22152683 10194 A7YF73;H0YKA1;H0YN23;Q6ZSZ6 AB210042;ABBA01015268;ABBA01015269;AC025105;AF039698;AI041446;AK127042;AK223545;AL833321;AMYH01009100;AMYH01009101;BC010679;BC024152;BU736177;DB284179;NG_032047;NM_005786 AAC18047;AAH24152;AAI52773;AAI56589;BAC86800;BAD97265;BAE06124;NP_005777;Q6ZSZ6 Hs.284217 1673207;1698796;1850686 G19288;RH102961;RH17560 CAA;NY-CO-33;SDCCAG33;TSH1 OTTHUMP00000163758;antigen NY-CO-33;serologically defined colon cancer antigen 33;teashirt homolog 1 APPROVED protein-coding ENSG00000179981 10669 15308 607842;614427 REVIEWED 1602690 TSKS testis-specific serine kinase substrate This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008] 19 19 19 q13.3 47112468 47135972 - 54934823 54958327 - 50243011 50266515 - 6480464 15044604;17474147;18495105;15489334;12477932;11444856;18533145;21832049;22939629;19389623 60385 C9K0I0;Q9UJT2 ABBA01032909;ABBA01032910;ABBA01032911;AC011495;AF200923;AF411384;AMYH01009918;BC058862;CH471177;HC007358;NM_021733 AAF12819;AAH58862;AAL60464;CBH19484;EAW52534;NP_068379;Q9UJT2 Hs.515858 1669763 RH78424 STK22S1;TSKS1;TSSKS STK22 substrate 1;testis specific serine/threonine kinase substrate;testis-specific kinase substrate;testis-specific serine kinase substrate APPROVED protein-coding ENSG00000126467 30719 09748 608253 REVIEWED 1604556 TSLP thymic stromal lymphopoietin This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012] 5 5 q22.1 110435289 110441623 + 110405778 110413722 + 6480464;6907045 19348931;19155513;19056108;19055649;18941246;18832690;18832669;18802348;18802347;18802341;18787178;18768889;18757306;18720075;18684970;18445339;18244952;18060034;18049884;17666213;17635955;21975173;21468164;17513717;17513456;17416344;17320941;17213320;16785889;15944327;15741223;14999427;12707303;12477932;12055625;11480573;11418668;10570284;22578802;22168549;22633328;21274737;21109746;19968632;20444169;20444170;17959543;18482256;19164348;19187393;19198610;19423540;19539984;19555430;19561109;19741251;19770269;19841072;19857905;20079130;20086239;20109311;20127673;20146705;20173030;20208534;20236697;20406964;20438785;20466416;20538796;20660708;21148792;20560908;20624642;20656951;20974963;20555350;19763625;20228393;20816195;21085187;22973903;20924287;20098747;21055671;21255094;20501368;22888172;22913730;21440421;21458958;21689850;21690322;23200753;22750414;20335125;21463955;21832049;22981788;16432252;16782024;16899198;17129180;18450510;18836588;19231591;19400908;20016474;20143171;20300138;21109412;21178477;21439160;21820713;21576506;21682736;21054781;21835441;21772055;22274860;21691053;22092577;22154513;22304237;21966427;22764833;21804548;21804549;22036096;22317895;22442496;22189594;23267211;23376058;22806096;23310954;23335246 85480 G3XAM8;Q969D9 ABBA01069072;AC008572;AF338732;AL833421;AMYH01015545;AY037115;BC016720;BC022894;BC040592;BF245025;BU571002;CH471086;CS390620;CS403714;FB735793;GN090295;HD117895;HH762798;NM_033035;NM_138551;NR_045089 AAH16720;AAH22894;AAH40592;AAK60617;AAK67490;CAL40434;CAL44818;CAV31018;CAX87027;CBX74361;CBX78818;EAW49037;EAW49038;NP_149024;NP_612561;Q969D9 Hs.389874 1697364;1797004;1857625 RH102180;RH65594;TSLP_1555 OTTHUMP00000158998;OTTHUMP00000158999;thymic stromal lymphopoietin APPROVED protein-coding ENSG00000145777 30743 06108 607003 REVIEWED 1601763 TSKU tsukushi, small leucine rich proteoglycan 11 11 11 q13.5 73801738 73816651 + 76171933 76186846 + 76493357 76509198 + 6480464 16344560;16303743;15489334;15231748;14702039;12975309;12477932;11085516;19710929;22995554;22880013 25987 B3KRF9;E9PLG7;E9PN12;Q8WUA8 ABBA01017447;AF191019;AK075476;AK091475;AK126536;AK313405;AL110276;AMYH01003821;AMYH01003822;AP003119;AY358317;BC020975;BT007440;CH471076;DB199776;NM_001258210;NM_015516 AAF09483;AAH20975;AAP36108;AAQ88683;BAG52149;BAG52371;CAB53711;EAW75005;EAW75006;EAW75007;NP_001245139;NP_056331;Q8WUA8 Hs.8361 1679345;2128252;5014053 D1S3693;RH36843;STS-AA009735 E2IG4;LRRC54;TSK E2-induced gene 4 protein;OTTHUMP00000229026;leucine rich repeat containing 54;leucine-rich repeat-containing protein 54;tsukushi homolog;tsukushi small leucine rich proteoglycan homolog;tsukushi, small leucine rich proteoglycan;tsukushin APPROVED protein-coding ENSG00000182704 28850 12152 608015 VALIDATED 1606429 TSNARE1 t-SNARE domain containing 1 8 8 8 q24.3 139601738 139745075 - 143291348 143482444 - 143293441 143484543 - 6480464 16344560;14702039;12477932 203062 B7ZLB0;E5RG83;E5RHT3;E5RHW3;E5RI41;Q96NA8 ABBA01029395;ABBA01029396;ABBA01029397;ABBA01029398;ABBA01029399;ABBA01029400;ABBA01029401;ABBA01029402;ABBA01029403;AC103758;AC129918;AC134682;AC145290;AK055726;AMYH01019081;AMYH01019082;BC065226;BC113556;BC126343;BC143684;BC143686;CH471162;DA229159;NM_145003 AAH65226;AAI13557;AAI26344;AAI43685;AAI43687;ADR83212;BAB70997;EAW82324;NP_659440;Q96NA8 Hs.370931 1729476;1758377;1758627;1771113;1786642;1786644;1786650;1786682 D15S187;D8S161;SHGC-148192;SHGC-148956;SHGC-149162;SHGC-149212;SHGC-149474;SHGC-153754 FLJ31164;MGC142116 OTTHUMP00000227757;OTTHUMP00000227758;OTTHUMP00000227759;t-SNARE domain-containing protein 1 protein-coding ENSG00000171045 26437 08708 VALIDATED 1348366 TSNAXIP1 translin-associated factor X interacting protein 1 16 16 16 q22.1 52349445 52370387 + 66398511 66419472 + 67841010 67861971 + 6480464 16344560;12477932;12036294;21832049;22939629;21683752 55815 B4DXD0;E7ENJ7;H3BNS9;H3BNU6;H3BQ72;I3L1M2;J3KQF4;J3QQL6;J3QS50;J3QSH8;Q2TAA8 ABBA01025457;ABBA01025458;ABBA01025459;ABBA01025460;AC040162;AF132730;AK027245;AK301920;AK302300;AK303841;AMYH01007752;AMYH01007753;BC035320;BC050693;BC051766;BC062628;BC111018;CH471092;DA200633;NM_018430 AAF66441;AAI11019;BAG63342;BAG63640;BAG64785;EAW83169;EAW83170;EAW83171;EAW83172;EAW83173;EAW83174;EAW83175;EAW83176;EAW83177;NP_060900;Q2TAA8 Hs.632212 1852041;1854980 D16S2576E;G11818 MGC111443;TXI1 OTTHUMP00000174849;translin-associated factor X-interacting protein 1;trax-interacting protein 1 protein-coding ENSG00000102904 18586 09656 607720 VALIDATED 1351634 TSN translin This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] 2 2 q21.1 122229591 122241899 + 122513121 122525429 + 1580863;6480464 7663511;16411762;16218753;15919079;15815621;15544804;15489334;15138261;15039555;14711818;14702039;12532453;12484770;20932654;11705401;11278549;11126370;10767349;10434033;12477932;11876655;9244443;9111049;9013868;8134113;8125298;7947454;11801738;19805324;21552258;23084401;22863883;22939629;18781797;21139048;21890473;21906983;15342556;16344560;22427937;9756912;22053931 7247 B3KRM8;E9PGT1;H7C1D4;Q15631 ABBA01032249;AC018737;AK091915;AK222868;AK296469;AK298812;AK307344;AK311410;AK315763;AL122099;AMYH01010998;BC002359;BP289175;BP309328;BT019490;BT019491;CH471103;DA523145;DA772798;NM_001261401;NM_004622;NR_048556;NR_048557;NR_048558;NR_048559;X78627;X95076;Y12563 AAH02359;AAV38297;AAV38298;AAY14831;BAD96588;BAG52440;BAH12364;BAH12875;CAA55341;CAA73150;EAW95262;EAW95263;NP_001248330;NP_004613;Q15631 Hs.75066 2139802;2140574;2159003;2173757 A002S45;D2S2498;RH46068;RH70915 BCLF-1;C3PO;RCHF1;REHF-1;TBRBP;TRSLN OTTHUMP00000203714;OTTHUMP00000203715;OTTHUMP00000203716;component 3 of promoter of RISC;recombination hotspot associated factor;recombination hotspot-binding protein;testis brain-RNA binding protein;translin APPROVED protein-coding ENSG00000211460 12379 08993 600575 REVIEWED 1354320 TSPAN1 tetraspanin 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 1 1 p34.1 46418799 46424217 + 46640749 46651634 + 1580863;6480464 9714763;19139842;19017553;18822690;17913940;15489334;12477932;12115476;11739647;10719184;21302622;17207965;16341674;18851943;19508227;20890423;20680643;22088470;21836059;22378020 10103 O60635 ABBA01050845;AF054838;AF065388;AF133425;AK313774;AL672043;AMYH01000582;BC000695;BC007290;BC013404;BM856468;BM908049;CH471059;NM_005727 AAC17119;AAC69714;AAF08364;AAH07290;AAH13404;ACE86997;ACE87686;ADQ33140;BAG36512;EAX06938;EAX06939;EAX06940;EAX06941;NP_005718;O60635 Hs.38972 1334574;2181943 G15732;SHGC-74773 9030418M05Rik;NET-1;NET1;RP11-322N21.1;TM4C;TM4SF;TSPAN-1 OTTHUMP00000008900;tetraspan 1;tetraspanin-1 APPROVED protein-coding ENSG00000117472 20657 18232 613170 REVIEWED 1602455 TSPAN10 tetraspanin 10 17 17 17 q25.3 76254397 76260803 + 77219754 77226184 + 79609349 79615779 + 6480464 16344560;14702039;12477932;12107410;21697133;21139048 83882 Q6PJ65;Q9H1Z9 AB593081;AB593082;ABBA01032158;AC139530;AF325213;AK096926;AMYH01008718;BC021923;BC032802;BG760374;CH471099;DA912496;NM_031945 AAG42857;AAH21923;AAH32802;BAJ84021;BAJ84022;EAW89665;NP_114151;Q9H1Z9 Hs.740811 5015619;5037552 D11S3114;D8S2279 FLJ39607;OCSP oculospanin;tetraspanin-10;tspan-10 protein-coding ENSG00000182612 29942 17655 VALIDATED 1349307 TSPAN16 tetraspanin 16 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. [provided by RefSeq, Jul 2008] 19 19 19 p13.2 11301683 11332546 + 11267824 11298672 + 11406824 11437672 + 737633;1580863;6480464 12477932 10500248;23505323 26526 K7EMI8;K7EN22;K7EPD8;Q8N6J7;Q9UKR8 ABBA01029863;ABBA01029864;AC011472;AC024575;AC098777;AMYH01009483;BC029908;CH471106;HC007360;HC044645;NM_012466 AAH29908;CBH19485;CBH30652;EAW84187;NP_036598;Q9UKR8 Hs.579784 1672504;1725697;1796628 G62051;HSC1UF062;RAB3D_775 TM-8;TM4-B;TM4SF16 tetraspanin TM4-B;tetraspanin-16;transmembrane 4 superfamily member 16;tspan-16 APPROVED protein-coding ENSG00000130167 30725 18197 REVIEWED 1604416 TSPAN11 tetraspanin 11 12 12 12 p11.21 36222678 36292351 + 30971105 31036722 + 31079838 31149537 + 6480464 14702039;12975309;12477932 441631 A1L157;F5H0F0;F5H195;F5H2P0 ABBA01068090;ABBA01068091;AC008013;AC008150;AK024399;AK293947;AK300920;AMYH01004362;AY358804;BC127660;BC127661;BC146917;BC146922;NM_001080509 A1L157;AAI27661;AAI27662;AAI46918;AAI46923;AAQ89164;BAG57324;BAG62552;NP_001073978 Hs.505141 1669275;1680409;1687830;1694596;1721421;1725853;1847910 G43293;G59562;G62404;RH39715;RH47789;RH78364;RH79774 VSSW1971 OTTHUMP00000238855;OTTHUMP00000238856;OTTHUMP00000238857;tetraspanin-11;tspan-11 protein-coding ENSG00000110900 30795 VALIDATED 1346427 TSNAX translin-associated factor X This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008] 1 1 q42.1 229731022 229768893 + 231664399 231702270 + 1580863;6480464 9013868;17673452;16275808;16189514;15919079;15838535;15561718;15489334;14711818;14642810;12477932;12036294;11801738;11278549;11043515;10945471;19255581;19615732;19760522;19805229;20398908;20691427;21552258;22939629;22863883;21139048;21890473;21906983;19471022;22427937;20498229;22889834;19447967;21963094;21988832;22673686;23000965;16055714;22053931;22505724 7257 Q5VVQ1;Q99598 ABBA01033039;ABBA01033040;AF222988;AF271269;AK313068;AL445524;AL626763;AMYH01001819;BC010376;BC011797;BX537610;CH471098;NM_005999;X95073 AAF91233;AAH10376;AAH11797;AAK58640;BAG35896;CAA64469;CAD97797;EAW69961;EAW69962;EAW69963;EAW69964;NP_005990;Q99598 Hs.13318 1683182;1693790;5022578;5022651;5037552;5118444 D11S2921;D11S3316;D1S1423;D8S2279;RH93090;SHGC-58926 DISC1;TRAX OTTHUMP00000037482;OTTHUMP00000037483;disrupted in schizophrenia 1;translin-associated protein X;translin-like protein APPROVED protein-coding ENSG00000116918 12380 04270 602964 REVIEWED 1322379 TSPAN12 tetraspanin 12 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 7 7 7 q31.31 115236877 115307696 - 120214610 120285413 - 120427374 120498177 - 1580863;6480464;7240710 10719184;19401682;12975309;12853948;12690205;12477932;11739647;9847074;19587294;20159111;20159112;19837033;21334594;21552475;21626674;22427576;21640790;20301326 23554 C9IZ82;C9J9U1;C9JC05;C9JQM0;H7C0X9;O95859 AACC02000001;ABBA01057766;AC004456;AF124522;AK299247;AK307161;AK312239;AMYH01017893;AMYH01017894;AY358703;BC031265;BF338835;BI964728;CH236947;CH471070;NG_023203;NM_012338 AAD17317;AAH31265;AAQ89066;AAQ96879;ABM84625;BAG35172;BAG61278;EAL24349;EAW83543;EAW83544;EAW83545;NP_036470;O95859 Hs.16529 1652476;1675742;2109963;2160619 GDB:6028556;RH46586;STS-H69524;TM4SF12_9367 EVR5;NET-2;NET2;TM4SF12 OTTHUMP00000211223;OTTHUMP00000211224;OTTHUMP00000211229;tetraspan NET-2;tetraspanin-12;transmembrane 4 superfamily member 12;tspan-12 APPROVED protein-coding ENSG00000106025 21641 15509 613138;613310 REVIEWED 1606713 TSPAN19 tetraspanin 19 12 12 12 q21.31 85071684 85093647 - 83932225 83954186 - 85408094 85430055 - 6480464 16541075;14702039;8889548 144448 F8VV50;F8VZ36;H0YFW1;J3KQT2;P0C672 ABBA01053445;ABBA01053446;AC025418;AK126325;AMYH01004635;BX116902;CB852874;CB854430;CH471054;NM_001100917 EAW97391;NP_001094387;P0C672 Hs.156962 2129479;2165510 D12S855;STS-N40969 FLJ44351 OTTHUMP00000232097;putative tetraspanin-19;tspan-19 protein-coding ENSG00000231738 31886 VALIDATED 1342494 TSPAN14 tetraspanin 14 10 10 10 q23.1 76204371 76272722 + 82204047 82269366 + 82214038 82282391 + 737633;1580863;6480464 12477932 16303743;15489334;14702039;11230166;19473719;21139048;21890473;21906983;19322201;23128233;22645275 81619 A6NEP9;H7BXY6;Q8N2P5;Q8NG11 ABBA01003796;ABBA01003797;ABBA01003798;ABBA01003799;ABBA01003800;AC021028;AF311903;AK025157;AK026621;AK055330;AK074558;AK295321;AL136638;AMYH01002882;BC002920;BC093016;BI918996;CH471142;DC300676;NM_001128309;NM_030927 AAH02920;AAH93016;AAM94899;BAC11059;BAG58298;CAB66573;EAW80384;EAW80385;EAW80386;EAW80387;EAW80388;EAW80389;NP_001121781;NP_112189;Q8NG11 Hs.718943 1652125;1670098;1720825;2143122;5014051;5022200;5022651;5037552;5093950 A009Z22;D10S1375E;D11S2921;D8S2278;D8S2279;G33018;G59388;L18426;WI-20336 DC-TM4F2;MGC11352;TM4SF14 OTTHUMP00000019979;OTTHUMP00000019980;OTTHUMP00000019981;OTTHUMP00000019983;OTTHUMP00000019984;OTTHUMP00000019985;OTTHUMP00000019986;tetraspanin similar to TM4SF9;tetraspanin-14;transmembrane 4 superfamily member 14;tspan-14 protein-coding ENSG00000108219 23303 18196 VALIDATED 1346680 TSPAN17 tetraspanin 17 5 5 5 q35.3 172414193 172425864 - 176006994 176018665 + 176074388 176086059 + 6480464 17353931;10531035;14702039;12477932;11214971;10531037;17207965 26262 C9J7R4;D6RBW9;D6RDX8;D6RI03;H0Y9A5;J3KNG2;Q96FV3 ABBA01033484;AC091934;AF174603;AK024427;AMYH01015865;AY037146;BC010405;BC067105;BG703362;BI756001;BU624765;CA417292;CH471195;CT002861;NM_001006616;NM_012171;NM_130465 AAF04524;AAH10405;AAH67105;AAK67627;ADQ32153;BAB15717;EAW85053;EAW85054;EAW85055;EAW85056;EAW85057;EAW85058;EAW85059;EAW85060;EAW85061;NP_001006617;NP_036303;NP_569732;Q96FV3 Hs.532129 2151915;2185543 D5S1653E;STS-R58948 FBX23;FBXO23;MGC14859;MGC71255;TM4SF17 F-box only protein 23, transmembrane 4 superfamily member 17;OTTHUMP00000223387;OTTHUMP00000223388;OTTHUMP00000223389;OTTHUMP00000223391;OTTHUMP00000223392;OTTHUMP00000223393;tetraspan protein SB134;tetraspanin-17;transmembrane 4 superfamily member 17;tspan-17 protein-coding ENSG00000048140 13594 18198 VALIDATED 1351907 TSPAN15 tetraspanin 15 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q22.1 64487632 64543834 + 70881232 70937429 + 71211226 71267423 + 1580863;6480464 12037680;17207965;10719184;15489334;12975309;12477932;11739647;16385451;17192395;21900206;23006423 23555 H7C285;O95858 ABBA01019607;ABBA01019608;ABBA01019609;AC016821;AF120266;AMYH01002807;BC003157;BC004161;BI457070;CH471083;JA738641;NM_012339 AAD17295;AAH03157;AAH04161;ADQ31646;CCF76973;EAW54326;EAW54327;NP_036471;O95858 Hs.499941 1683305;1756695;2109965 RH92663;SHGC-143786;TM4SF15_9368 2700063A19Rik;NET-7;NET7;TM4SF15 OTTHUMP00000019726;OTTHUMP00000197068;tetraspan NET-7;tetraspanin-15;transmembrane 4 superfamily member 15;transmembrane 4 superfamily member tetraspan NET-7;tspan-15 APPROVED protein-coding ENSG00000099282 23298 15511 613140 REVIEWED 1605907 TSPAN18 tetraspanin 18 11 11 11 p11.2 44932703 45100673 + 44837628 44909463 + 44785976 44953978 + 6480464 19240061;16303743;14702039;12975309;12477932;11756464;16344560;20379614;17192395;22037552;22632162 90139 E5RFP3;E5RFV0;E9PKD8;E9PL40;E9PPB7;H0YB98;Q96SJ8 ABBA01060767;AC092733;AK027515;AK027715;AK075547;AMYH01003525;AMYH01003526;AY358087;BC019342;BF110241;CH471064;CS300560;DA067480;DA603407;DA734054;NM_130783 AAH19342;AAQ88454;ADZ16090;BAB55318;BAC11690;CAK32224;EAW68058;EAW68059;EAW68060;EAW68061;EAW68062;NP_570139;Q96SJ8 Hs.385634 1337285;1338482;1656465;1665253;1665255;1675921;1683383;1686965;1713371;1728233;1730069;1737709;1737919;1739213;1753687;1754995;1855937;2117244;2143254;2172293;7186450;7187500 A001Z17;D11S1361;D11S3305;D11S3526;D11S3959;D11S4103;D11S554;FB23H3;FB24D9;G19814;G63540;RH119540;RH18414;RH66436;RH80358;RH80852;RH98379;SHGC-107625;SHGC-141935;WI-15964 FLJ14609;TSPAN OTTHUMP00000225273;OTTHUMP00000225294;tetraspanin-18;tspan-18 protein-coding ENSG00000157570 20660 17435 VALIDATED 1323423 TSPAN13 tetraspanin 13 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 7 7 7 p21.1 16773658 16804467 + 16759876 16790686 + 16793351 16824161 + 1580863;6480464 10719184;19148481;17486367;16303743;15958618;15489334;14702039;12975309;12690205;12477932;11739647;10931946;8889548;27075;21832049;23535033;19322201 27075 O95857;Q6FGK0 AACC02000008;ABBA01056634;AC073333;AF100759;AF120265;AK026587;AK075475;AK093487;AK316595;AMYH01017092;AY358995;BC033863;CB852023;CH236948;CH471073;CR542107;NM_014399 AAD17294;AAD43023;AAH33863;AAQ89354;ABM82985;ABM86178;BAG38182;BAG52148;CAG46904;EAL24284;EAW93680;EAW93681;NP_055214;O95857 Hs.364544 1649620;1679708;1698922;1718231;2140590 D7S2019;RH103030;RH122885;RH48946;RH75359 FLJ22934;NET-6;NET6;TM4SF13 OTTHUMP00000158500;tetraspan NET-6;tetraspanin-13;transmembrane 4 superfamily member 13;transmembrane 4 superfamily member tetraspan NET-6;tspan-13 APPROVED protein-coding ENSG00000106537 21643 15510 613139 REVIEWED 1344307 TSPAN2 tetraspanin 2 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 1 1 1 p13.2 113819851 113861367 - 115392155 115433638 - 115590632 115632121 - 1580863;6480464 9714763;16710414;15489334;14702039;12477932;11756464;11739647;20237496;20379614 10100 B1AKP1;B1AKP2;D6PTH4;O60636 ABBA01068472;AF054839;AK022144;AK315385;AL109660;AMYH01000968;BC021675;BG697236;BQ067895;CH471122;CQ834272;GU971730;JA738737;NM_005725 AAC69715;AAH21675;ABM84616;ABM84617;ABM84618;ABM84619;ABW03588;ADF80915;BAG37778;CAH05351;CCF77021;EAW56627;NP_005716;O60636 Hs.310458 1678585;1690856;1717237;1736906 D1S2212;RH122033;RH92905;RH98334 6330415F13Rik;FLJ12082;NET3;RP4-666F24.2;TSN2;TSPAN-2 OTTHUMP00000013651;OTTHUMP00000013652;OTTHUMP00000038317;new EST tetraspan 3;tetraspan 2;tetraspan NET-3;tetraspan TM4SF;tetraspanin 2 isoform;tetraspanin-2 APPROVED protein-coding ENSG00000134198 20659 18233 613133 REVIEWED 1602131 TSPAN3 tetraspanin 3 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009] 15 15 15 q24.3 54274355 54301711 - 75125386 75150568 - 77336359 77363570 - 6480464 9714763;16303743;16189514;15489334;14702039;12477932;11739647;1840594;11309411;16344560;17207965;21139048;21906983 10099 H0YKJ9;H0YMH8;O60637 AA554982;ABBA01060560;AC090181;AF054840;AF133423;AK001305;AK001310;AK001326;AK027793;AK075336;AK075482;AK293677;AK298157;AMYH01006825;BC000704;BC004280;BC009248;BC011206;CH471136;DA359645;DB449004;M69023;NM_001168412;NM_005724;NM_198902 AAC69716;AAF08362;AAH00704;AAH04280;AAH09248;AAH11206;ADQ31731;BAA91613;BAA91615;BAA91627;BAG52114;BAG52152;BAG57119;BAG60431;EAW99209;EAW99210;EAW99211;NP_001161884;NP_005715;NP_944492;O60637 Hs.5062 1652161;1697946 RH102502;SHGC-32751 TM4-A;TM4SF8;TSPAN-3 OTTHUMP00000184898;OTTHUMP00000184899;tetraspan 3;tetraspan TM4SF;tetraspanin TM4-A;tetraspanin-3;transmembrane 4 superfamily member 8 APPROVED protein-coding ENSG00000140391 17752 15512 613134 REVIEWED 1320454 TSPAN31 tetraspanin 31 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008] 12 12 q13.3 56425051 56428293 + 58138784 58142026 + 1580863;6480464 8134123;15489334;15024701;14702039;12477932;11337467;10101594;9989829;9192850;7789984;7531445;1661131;19913121;20628086;20237496;19322201 6302 F8VNT7;F8VP43;F8VS78;F8VVF8;F8VW54;F8VWE0;Q12999 AA811975;AB209699;ABBA01026694;AC025165;AK090502;AK294128;AK315765;AMYH01004524;AU098749;BC010377;BX647402;CH471054;CR407647;NM_005981;S78432;U01160;U81031 AAA17782;AAC39524;AAD14281;AAH10377;ABM83803;ABM87126;BAD92936;BAG38117;BAG57458;CAG28575;EAW97054;EAW97055;EAW97056;EAW97057;NP_005972;Q12999 Hs.632708 1646015;1657795;1744027;1744979;1744981;1744983;1744985;1744987;1745001;1745019;1745021;1745023;1745025;2108439;2139876;2189393;5020946;5021369;5022651 D11S2921;D12S1972;GDB:384863;GDB:592540;GDB:592552;GDB:592556;GDB:592565;GDB:592572;GDB:592739;GDB:593059;GDB:593062;GDB:593065;GDB:593068;L17796;L17971;MARC_3823-3824:991937736:1;SAS_8609;SHGC-31471;STS-M14505 SAS OTTHUMP00000243617;OTTHUMP00000243622;sarcoma amplified sequence;sarcoma-amplified sequence;tetraspanin-31;transmembrane 4 protein;tspan-31 APPROVED protein-coding ENSG00000135452 10539 01626 181035 REVIEWED 1604171 TSPAN33 tetraspanin 33 7 7 7 q32.1 123581313 123606255 + 128571948 128595907 + 128784712 128809534 + 6480464 17158226;16242907;16213355;15489334;12690205;12477932;17207965;23128233 340348 Q86UF1 AACC02000035;ABBA01057643;AC011005;AF276891;AK000208;AMYH01017928;AY236849;BC044244;CH236950;CH471070;NM_178562 AAH44244;AAO91940;AAQ14314;ADQ33116;EAL24103;EAW83712;EAW83713;EAW83714;NP_848657;Q86UF1 Hs.27267 2168305;2176551 D7S2096E;D7S2797 MGC50844;PEN OTTHUMP00000212928;hPen;penumbra;proerythroblast new membrane;tetraspanin-33;tspan-33 protein-coding 28743 14669 610120 VALIDATED 1318659 TSPAN32 tetraspanin 32 This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2358117 2374304 + 2279819 2296006 + 2323243 2339430 + 1580863;6480464 10950922;15489334;14759258;12477932;11718897;10915772;10072438;9403053;8469989;20709950;17192395 10077 D3YTD1;F8WB10;F8WCN6;G3XAG6;Q96QS1 AA701395;ABBA01032095;ABBA01032096;AC129929;AF125569;AF176070;AF176071;AK128812;AK298692;AK307638;AK310116;AMYH01003320;AMYH01003321;AY039001;AY303780;BC016693;BG506933;CH471158;NM_139022 AAD23580;AAG15840;AAG15841;AAH16693;AAK84431;AAP76185;BAG60852;EAX02498;EAX02499;EAX02500;EAX02501;EAX02502;EAX02503;EAX02504;EAX02505;NP_620591;Q96QS1 Hs.271954 1337684;1677098;1680040;1701204;1745979;1768475;1798402;1798746;1799222;1799538;1801192;1801194;1803596;1804448;1804610;1805476;1806248;1807230;1810778;1810932;1811542;1812806;1820224;1821064;1830348;2092612;2092614;2092626;2092628;2092630;2092632;2092634;2092636;2092638;2092640;2092642;2092644;2092646;2092648;2092650;2092652;2092654;2092656;2092658;2092660;2092662;2092664;2092666;2092668;2092670;2092672;2092674;2092676;2092678;2092680;2092682;2092684;2092686;2092688;2092690;2092692;2092694;2092696;2092698;2092700;2092702;2092704;2092706;2092708;2092710;2092712;2092714;2092716;2092718;2092720;2092722;2092724;2092726;2092728;2092730;2092732;2092734;2092736;2092738;2092740;2092742;2092744;2092746;2092748;2092750;2216918;2216920;2216922;2216924;2216926;2216928;2216930;2216932;2216934;2216936;2216938;2216940;7184050 D11S1318;ECD00037;ECD00213;ECD00459;ECD00621;ECD01468;ECD01469;ECD02702;ECD03148;ECD03237;ECD03686;ECD04079;ECD04583;ECD06387;ECD06464;ECD06774;ECD07416;ECD11186;ECD11609;ECD16308;REN117589;REN117590;REN117596;REN117597;REN117598;REN117599;REN117600;REN117601;REN117602;REN117603;REN117604;REN117605;REN117606;REN117607;REN117608;REN117609;REN117610;REN117611;REN117612;REN117613;REN117614;REN117615;REN117616;REN117617;REN117618;REN117619;REN117620;REN117621;REN117622;REN117623;REN117624;REN117625;REN117626;REN117627;REN117628;REN117629;REN117630;REN117631;REN117632;REN117633;REN117634;REN117635;REN117636;REN117637;REN117638;REN117639;REN117640;REN117641;REN117642;REN117643;REN117644;REN117645;REN117646;REN117647;REN117648;REN117649;REN117650;REN117651;REN117652;REN117653;REN117654;REN117655;REN117656;REN117657;REN117658;RH104230;RH124990;RH45214;RH79705;RH93381;stSG548808;stSG548809;stSG548810;stSG548811;stSG548812;stSG548813;stSG548814;stSG548815;stSG548816;stSG548817;stSG548818;stSG548819 ART1;FLJ17158;FLJ97586;MGC22455;PHEMX;PHMX;TSSC6 OTTHUMP00000011324;OTTHUMP00000011326;OTTHUMP00000011327;OTTHUMP00000069770;OTTHUMP00000198686;OTTHUMP00000199810;pan-hematopoietic expression protein;protein Phemx;tetraspanin-32;tspan-32;tumor-suppressing STF cDNA 6;tumor-suppressing subchromosomal transferable fragment cDNA 6;tumor-suppressing subtransferable candidate 6 APPROVED protein-coding ENSG00000064201 13410 04834 603853 REVIEWED 6481066 TSPAN9-IT1 TSPAN9 intronic transcript 1 (non-protein coding) 100874356 AC005912 miscrna 41462 1314069 TSPAN4 tetraspanin 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 880283 934195 + 832824 857116 + 842824 867116 + 1580863;6480464 22236579;9360996;16341674;15489334;14702039;14671302;12477932;11739647;11591653;10741407;10734060;10229664;9714763;20237496 7106 A8MVV6;E9PMX4;E9PN41;E9PPX8;E9PSH3;J3KNL1;J3KQ42;O14817 ABBA01015212;ABBA01015213;ABBA01015214;AF022813;AF054841;AK054788;AK095212;AK126456;AK291089;AL543667;AMYH01003296;AP006623;AW204812;AY415329;BC000389;BC019314;BC093031;BF530006;BG752017;BI820547;BM555783;BM755435;BQ679002;BT006776;CH471158;CR457108;NM_001025234;NM_001025235;NM_001025236;NM_001025237;NM_001025238;NM_001025239;NM_003271 AAC51864;AAC69717;AAH00389;AAH19314;AAH93031;AAP35422;BAF83778;CAG33389;EAX02409;EAX02410;EAX02411;NP_001020405;NP_001020406;NP_001020407;NP_001020408;NP_001020409;NP_001020410;NP_003262;O14817 Hs.654836 1774445;1778699;2136711;2138328;2140685;2144767;2168680;5093252 A009K14;D11S2243E;G32609;RH121967;RH41790;RH47994;RH48177;STS-W47645 NAG-2;NAG2;TETRASPAN;TM4SF7;TSPAN-4 OTTHUMP00000164428;OTTHUMP00000205756;OTTHUMP00000205757;OTTHUMP00000205758;OTTHUMP00000229251;OTTHUMP00000229252;OTTHUMP00000229253;novel antigen 2;tetraspan TM4SF;tetraspanin-4;transmembrane 4 superfamily member 7 APPROVED protein-coding ENSG00000214063 11859 04033 602644 REVIEWED 1349674 TSPEAR-AS1 TSPEAR antisense RNA 1 q22.3 10830953;16344560 54082 AJ003491;AJ003549;AJ003550;AJ003554;AP001066;DB070595;NR_103707 Hs.580950 C21orf31 APPROVED miscrna 1271 VALIDATED 1602132 TSPAN5 tetraspanin 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008] 4 4 4 q23 96686187 96874635 - 99612421 99798750 - 99391518 99579812 - 6480464 15489334;14702039;12477932;11739647;10719184;9714763;20379614;17207965;21832049;21906983 10098 B7Z317;D6R9N6;D6RAR1;D6RBT5;D6RGZ7;H0Y8W4;P62079 ABBA01063657;ABBA01063658;AC058823;AC074120;AC108159;AC114811;AF053455;AF065389;AI089708;AK055659;AK126702;AK295385;AK315723;AMYH01014415;AMYH01014416;AMYH01014417;BC009704;CH471057;CR541809;CR541829;NM_005723 AAC17120;AAC69712;AAH09704;ACE86835;ACE87522;ADQ31851;BAG38079;BAH12053;CAG46608;CAG46628;EAX06074;NP_005714;P62079 Hs.118118 1298248;1644205;1646197;1650046;1656325;1657746;1659974;1661667;1762199;1772481;1776080;1853416;1857903;2109967;2126982;2127218;2128866;2133926;2139557;2140687;2140689;2172154;2186446;5109281 A002B01;D1S1425;D4S1018;D4S1025;D4S1647;D4S2529E;D4S2807;D4S3289;D4S535;G19871;SHGC-146078;SHGC-24723;SHGC-33897;SHGC-50175;SHGC-51484;SHGC-56798;SHGC-59702;SHGC-67253;SHGC-67838;STS-AA004443;STS-AA009676;STS-H75492;STS-N62647;TM4SF9_9040 NET-4;NET4;TM4SF9;TSPAN-5 OTTHUMP00000161626;OTTHUMP00000219690;OTTHUMP00000219691;tetraspan 5;tetraspan NET-4;tetraspan TM4SF;tetraspanin-5;transmembrane 4 superfamily member 9;transmembrane 4 superfamily, member 8 APPROVED protein-coding ENSG00000168785 17753 15513 613136 REVIEWED 1347181 TSPAN6 tetraspanin 6 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013] X X X q22 100402531 100410530 - 99770451 99778450 - 99883795 99891794 - 1580863;6480464 22908223;12761501;16303743;15772651;15489334;12975309;12477932;11739647;9782095;9714763;16169070;21900206;21906983;12681443;15146197;16314869;16344560;21963094;22091964;8889549;9194523 7105 O43657 AB097016;AB209876;ABBA01064145;ABBA01064146;AF043906;AF053453;AF133426;AK075072;AK299176;AK300852;AK309581;AK315773;AL035608;AMYH01022720;AY358825;BC012389;BI458635;BT006977;CH471115;CN274931;CR457115;CX760536;CX868833;DA038474;DA147330;N64145;NG_012534;NM_001278740;NM_001278741;NM_001278742;NM_001278743;NM_003270;U84895 AAC64257;AAC69710;AAD00560;AAF08365;AAH12389;AAP35623;AAQ89184;ABM81594;ABM84775;BAC77369;BAD93113;BAG52059;BAG61222;BAG62503;CAG33396;EAX02809;EAX02810;EAX02811;NP_001265669;NP_001265670;NP_001265671;NP_001265672;NP_003261;O43657 Hs.43233;Hs.587521 1686969;2176411;2218832 DXS8329;RH76329;TM4SF6__5271 T245;TM4SF6;TSPAN-6 A15 homolog;OTTHUMP00000023652;putative NF-kappa-B-activating protein 321;tetraspan TM4SF;tetraspanin TM4-D;tetraspanin-6;transmembrane 4 superfamily member 6 APPROVED protein-coding ENSG00000000003 11858 02179 300191 REVIEWED 1352570 TSPAN7 tetraspanin 7 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008] X X p11.4 38305683 38433116 + 38420731 38548172 + 1580863;6480464;7240710 8420826;10617319;19339915;15489334;14735593;12777533;12477932;12070254;11739647;11387256;11161835;10655063;10449641;10229664;8325628;8168850;7768645;17353931;16169070;19535787;19736351;20479760;20630051;20951001;20850477;23284715;21078624;22213152;22445342;17989173;19894777 7102 B4DDG0;B4DEA5;B4DEB8;F8WC96;F8WF47;F8WF53;P41732 AA757687;AB062057;AB102401;AB102402;AB102403;AB102404;AB102405;AB102406;AB102407;AB102408;AB102409;AB102410;AB102411;AB102412;AB102413;AB102414;AB102415;AB102416;AB102417;AB102418;AB102419;AB102420;AB102461;AB102462;AB102463;AB102464;AB102465;AB102466;AB102467;AB102468;AB102469;AB102470;AB102471;AB102472;AB102473;AB102474;AB102475;AB102476;AB102477;AB102478;AB102479;AB102480;AB102491;AB102492;AB102493;AB102494;AB102495;AB102496;AB102497;AB102498;AB102499;AB102500;AB102501;AB102502;AB102503;AB102504;AB102505;AB102506;AB102507;AB102508;AB102509;AB102510;AB102521;AB102522;AB102523;AB102524;AB102525;AB102526;AB102527;AB102528;AB102529;AB102530;AB102531;AB102532;AB102533;AB102534;AB102535;AB102536;AB102537;AB102538;AB102539;AB102540;AB102665;ABBA01047000;ABBA01047001;ABBA01047002;ABBA01047003;ABBA01047004;ABBA01047005;ABBA01047006;ABBA01047007;ABBA01047008;ABBA01047009;ABBA01047010;ABBA01047011;ABBA01047012;AF241726;AF241727;AJ250562;AK293178;AK293534;AK293552;AK312343;AMYH01022214;BC018036;CH471141;D10653;D29808;DB475293;L10373;NG_009160;NM_004615 AAH18036;ABM83019;ABM86497;BAA01501;BAA06191;BAB55824;BAB55825;BAC80900;BAC80901;BAC80902;BAC80903;BAC80904;BAC80905;BAC80906;BAC80907;BAC80908;BAC80909;BAC80910;BAC80911;BAC80912;BAC80913;BAC80914;BAC80915;BAC80916;BAC80917;BAC80918;BAC80919;BAC80930;BAC80931;BAC80932;BAC80933;BAC80934;BAC80935;BAC80936;BAC80937;BAC80938;BAC80939;BAC80940;BAC80941;BAC80942;BAC80943;BAC80944;BAC80945;BAC80946;BAC80947;BAC80948;BAC80949;BAC80960;BAC80961;BAC80962;BAC80963;BAC80964;BAC80965;BAC80966;BAC80967;BAC80968;BAC80969;BAC80970;BAC80971;BAC80972;BAC80973;BAC80974;BAC80975;BAC80976;BAC80977;BAC80978;BAC80979;BAC80990;BAC80991;BAC80992;BAC80993;BAC80994;BAC80995;BAC80996;BAC80997;BAC80998;BAC80999;BAC81000;BAC81001;BAC81002;BAC81003;BAC81004;BAC81005;BAC81006;BAC81007;BAC81008;BAC81009;BAC81134;BAG35264;BAG56721;BAG57016;BAG57029;CAB65594;EAW59437;EAW59438;NP_004606;P41732 Hs.441664 1339686;1663218;1669371;1701770;1702406;1702856;1723783;1796962;1852259;2139430;2147186;2183851;2220284 AB047628;AL023926;AL023948;DXS1111;DXS1409;DXS1692E.1;DXS8345;DXS989;RH118630;RH17362;RH46534;RH68281;TM4SF2_281 A15;CCG-B7;CD231;DXS1692E;MRX58;MXS1;TALLA-1;TM4SF2;TM4SF2b CD231 antigen;OTTHUMP00000215645;OTTHUMP00000215926;OTTHUMP00000219544;T-cell acute lymphoblastic leukemia associated antigen 1;T-cell acute lymphoblastic leukemia-associated antigen 1;cell surface glycoprotein A15;membrane component chromosome X surface marker 1;membrane component, X chromosome, surface marker 1;tetraspanin protein;tetraspanin-7;transmembrane 4 superfamily 2b;transmembrane 4 superfamily member 2;transmembrane protein A15;tspan-7 APPROVED protein-coding ENSG00000156298 11854 02107 300096;300210 REVIEWED 736010 TSPAN8 tetraspanin 8 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q14.1-q21.1 69805144 69838046 - 71518877 71551779 - 1580863;6480464 11739647;11690710;2395876;8661157;19502414;19324937;19247373;19020324;19020323;18714373;18591388;18567820;18372903;18365756;18317468;17579117;15489334;12939584;12477932;20581827;10229664;8125298;19602701;19670153;19720844;19741467;19794065;19833888;19833889;19862325;19933996;20052686;20075150;20161779;20203524;20360734;20379614;20490451;20712903;20879858;20889853;20927120;20571754;20816152;21081927;20937409;22679508 7103 F8VWH2;P19075 ABBA01026517;AC025575;AK223022;AK313112;AMYH01004578;BC005246;BC070168;CH471054;M35252;NM_004616 AAA35709;AAH05246;ADZ15677;BAD96742;BAG35934;EAW97257;NP_004607;P19075 Hs.170563 1728359;1774200;2176328 D12S1465;D12S1964;G63461 CO-029;TM4SF3 OTTHUMP00000241500;OTTHUMP00000241501;OTTHUMP00000241502;tetraspanin-8;transmembrane 4 superfamily member 3;tspan-8;tumor-associated antigen CO-029 APPROVED protein-coding ENSG00000127324 11855 02865 600769 REVIEWED 3563582 TSPY10 testis specific protein, Y-linked 10 Y p11.2 9365495 9368285 + 12815422 100289087 C9JPU3;F2Z2I4;P0CV98;Q01534 AC006156;XM_002344198;XM_003403496 P0CW01;XP_002344239;XP_003403544 5113687 RH38674 OTTHUMP00000038901;OTTHUMP00000038902;Testis-specific Y-encoded protein 10;testis specific protein, Y-linked 10 protein-coding ENSG00000236424 37473 MODEL 1350482 TSPY11P testis specific protein, Y-linked 11, pseudogene Y Y Y p11.2 3081403 3084135 - 6194488 6197420 + 6134588 6137316 + 12815422;9847074 347584 AC006335;NG_003077 TSPYP1 APPROVED pseudo 23903 INFERRED 1347702 TSPY12P testis specific protein, Y-linked 12, pseudogene Y Y Y p11.2 1664079 1666870 + 7614743 7617734 - 7554842 7557634 - 12815422;9847074 377997 ABBA01060149;ABBA01060150;AC007274;NG_003078 TSPYP2 APPROVED pseudo 23904 INFERRED 1347788 TSPY13P testis specific protein, Y-linked 13, pseudogene Y Y Y p11.2 3081404 3084136 - 10352962 10355894 - 9743066 9745794 - 12815422;9847074 378001 ABBA01031143;AC006986;NG_003079 TSPYP3 APPROVED pseudo 23905 INFERRED 1604156 TSPY14P testis specific protein, Y-linked 14, pseudogene Y Y q11.223 22039403 22042213 + 23630015 23632825 + 12815422;9847074 378013 AC010141;NG_004832 TSPYP4 APPROVED pseudo 23906 VALIDATED 1344496 TSPEAR thrombospondin-type laminin G domain and EAR repeats This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 21 21 21 q22.3 31025451 31239063 - 44742203 44955923 - 45917775 46131495 - 737768;6480464 12095917 15489334;22678063;12477932;10830953;20494980 54084 A8MW19;Q8WU66 ABBA01074169;ABBA01074170;AJ487962;AL773602;AL773604;AMYH01012295;AMYH01012296;AMYH01012297;AP001066;AP001067;BC021197;BC115414;BC115415;CH471079;NM_001272037;NM_144991 AAH21197;AAI15416;CAD32309;EAX09401;EAX09402;EAX09403;NP_001258966;NP_659428;Q8WU66 Hs.660703 1657736;1661280;1700712;1730924;1790653;2119461;2131259;2143776;2148922;2162957;2219870;2219872;5113175;7187920 D21S171;KRTAP12-3__6347;KRTAP12-4__6348;RH103979;RH75464;SHGC-51854;SHGC-51969;SHGC-51970;SHGC-51971;SHGC-7553;SHGC-87699;SHGC-87708;STS_CEB282 C21orf29;DFNB98;MGC11251;TSP-EAR OTTHUMP00000038670;OTTHUMP00000109540;TSP-EAR;protein TSPEAR;thrombospondin-type laminin G domain and EAR repeat-containing protein;thrombospondin-type laminin G domain and EAR repeats-containing protein APPROVED protein-coding ENSG00000175894 1268 09845 612920;614861 REVIEWED 2796362 TSPY15P testis specific protein, Y-linked 15, pseudogene Y Y Y p11.2 3494504 3503709 + 9995410 10004615 + 9385410 9394615 + 642631 ABBA01031132;ABBA01031133;ABBA01031134;AC006156;NG_016162 5021742;5115930 sY1725;sY1726 APPROVED pseudo 37474 INFERRED 3436167 TSPY17P testis specific protein, Y-linked 17, pseudogene Y Y p11.2 6445052 6449003 + 6388459 6388970 + 9847074 100132124 AC010144;NG_029070 2187955 G66122 testis specific protein, Y-linked 17 (pseudogene);testis specific protein, Y-linked 17, pseudogene APPROVED pseudo 37713 INFERRED 3362198 TSPY19P testis specific protein, Y-linked 19, pseudogene Y Y Y p11.2 3045344 3046391 + 6227773 6233115 - 6172343 6173390 - 100132504 AC006335;NG_022996 2220310 TSPY APPROVED pseudo 37998 INFERRED 3077882 TSPY18P testis specific protein, Y-linked 18, pseudogene Y Y Y p11.2 3045658 3046391 + 10317273 10320415 + 9707312 9708045 + 9847074 642796 ABBA01031143;AC006986;NG_016579 2220310 TSPY APPROVED pseudo 37725 INFERRED 2923113 TSPY20P testis specific protein, Y-linked 20, pseudogene Y Y Y p11.2 3210970 3214341 + 10482627 10485998 + 9872627 9875998 + 100130848 ABBA01031156;AC006987;NG_022960 APPROVED pseudo 38093 INFERRED 3254931 TSPY21P testis specific protein, Y-linked 21, pseudogene Y Y q11.223 8932923 8941169 + 24540721 24548967 - 100287055 ABBA01005817;AC007320;NG_022976 APPROVED pseudo 38101 INFERRED 1606125 TSPO2 translocator protein 2 6 6 6 p21.1 42562918 42564757 + 41118271 41120054 + 41010237 41012076 + 6480464 18636124;18676680;12477932;19625176;19729679;20379614 222642 Q5TGU0 ABBA01050761;AI052224;AL031778;AMYH01016291;BC104440;BC104441;BC137560;BC137565;BC144710;BU655765;BU657409;CH471081;CS072422;NM_001010873;NM_001159726 AAI04441;AAI04442;AAI37561;AAI37566;AAI44711;CAI93560;EAX04008;NP_001010873;NP_001153198;Q5TGU0 Hs.357392 5493565 UniSTS:487243 BZRPL1;MGC129806;MGC129807 OTTHUMP00000016363;OTTHUMP00000214126;benzodiazapine receptor (peripheral)-like 1;peripheral-type benzodiazepine receptor-like protein 1;translocator protein 2 APPROVED protein-coding ENSG00000112212 21256 16569 VALIDATED 3277422 TSPY22P testis specific protein, Y-linked 22, pseudogene Y Y q11.223 9027850 9031315 + 24450575 24454040 - 100286996 ABBA01005809;AC007320;NG_022955 APPROVED pseudo 38522 INFERRED 6481116 TSPY24P testis specific protein, Y-linked 24, pseudogene Y 8148239 8150250 + 100874287 AC051663;NG_032212 pseudo 38725 INFERRED 3277423 TSPY23P testis specific protein, Y-linked 23, pseudogene Y q11.223 24329997 24332168 + 9847074 100286964 AC023342;NG_029413 1790141;2188983;5116474 G66018;sY1196;sY3000 APPROVED pseudo 38594 INFERRED 6481122 TSPY25P testis specific protein, Y-linked 25, pseudogene Y 9461792 9463961 + 100874288 ABBA01031140;AC025819;NG_032213 pseudo 38726 INFERRED 1602896 TSPAN9 tetraspanin 9 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009] 12 12 12 p13.33-p13.32 4800573 5009494 + 3056818 3265991 + 3186521 3395730 + 6480464 10719184;19204726;18799160;18795891;15489334;12477932;11739647;8125298;19851296;20198315;17192395;19322201;21139048 10867 B5MD23;E9PHL0;O75954 ABBA01048781;ABBA01048782;ABBA01048783;ABBA01048784;ABBA01048785;ABBA01048786;ABBA01048787;AC005865;AC005912;AC125807;AF089749;AF217967;AK027366;AK223179;AMYH01004186;AMYH01004187;AW025505;AY523992;BC034280;BC071881;CH471116;CR542109;NM_001168320;NM_006675 AAC35859;AAG17210;AAH71881;AAT01541;BAD96899;BAG51307;CAG46906;EAW88867;EAW88868;EAW88869;NP_001161792;NP_006666;O75954 Hs.504517 1339361;1660705;1664375;1683070;1693894;1693896;1733620;1754345;1759529;1762423;1767975;1782676;1782752;2109553;2156242;2167353;2179721;2180744 D12S1403;D12S1569;D12S1626;D12S961;G41249;G42637;G42638;NET-_5_9188;RH65872;RH76323;SHGC-132370;SHGC-146253;SHGC-150872;SHGC-154079;SHGC-172085;SHGC-24138;SHGC-32621;WI-10035 NET-5;NET5;PP1057 OTTHUMP00000197071;OTTHUMP00000197072;new EST tetraspan 5;tetraspan NET-5;tetraspanin-9;transmembrane 4 superfamily member tetraspan NET-5;tspan-9 APPROVED protein-coding ENSG00000011105 21640 14823 613137 REVIEWED 2802038 TSPY16P testis specific protein, Y-linked 16, pseudogene Y Y Y p11.2 2813265 2813777 - 10087825 10098846 - 9477858 9478370 - 727969 ABBA01031140;AC025819;CH471163;NG_023198 EAW59130 2187955 G66122 hypothetical protein LOC727969 APPROVED pseudo 37712 VALIDATED 1349041 TSPY5P testis specific protein, Y-linked 5, pseudogene Y Y Y p11.2 3242346 3245148 - 10513903 10516905 - 9904002 9906805 - 12815422;9847074 379027 ABBA01031162;AC006987;NG_003093 5116402 sY2950 TSPYP5 APPROVED pseudo 23907 INFERRED 2292189 TSPY6P testis specific protein, Y-linked 6, pseudogene Y Y p11.2 9955163 9957973 + 9345159 9347972 + 653174 R4GMP3;R4GNE9 AC006156;NG_009702 TSPYP6 APPROVED pseudo 34039 INFERRED 2292187 TSPY7P testis specific protein, Y-linked 7, pseudogene Y Y p11.2 9275689 9278481 + 9215685 9218480 + 653288 AC006158;NG_009742 TSPYP7 APPROVED pseudo 34040 INFERRED 3476546 TSPY8 testis specific protein, Y-linked 8 Y Y p11.2 9255410 9258202 + 9195452 9198202 + 21906983;12815422 728403 A6NDJ3;A6NGL4;F5H122;F8VZD1;P0CW00 AC006158;NM_001243721 NP_001230650;P0CW00 Hs.740264 5113687 RH38674 OTTHUMP00000038905;OTTHUMP00000038906;testis specific protein, Y-linked 8;testis-specific Y-encoded protein 8 protein-coding ENSG00000229549 37471 INFERRED 3539644 TSPY9P testis specific protein, Y-linked 9, pseudogene Y Y p11.2 9934880 9937690 + 9324876 9326597 + 728132 AC006156;NG_021936 TSPY9 APPROVED pseudo 37472 INFERRED 737564 TSPO translocator protein (18kDa) Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012] 22 22 q13.31 41877479 41889192 + 43547520 43559248 + 1358442;1580863;6480464 11215759 1326278;16822554;8307574;19598235;19077109;18806692;18791274;18256758;18158327;18054208;17561806;16919618;16868661;16511838;16189298;15769477;15648546;15489334;15473257;15461802;15296476;15041726;14688214;14626449;14584048;12547158;12477932;12374690;11304832;10591208;9915832;9027587;8121239;7721091;3018615;1847678;1654492;22645299;19170196;18670869;19525461;19525468;19617321;19668118;19692168;19789311;19846611;20085808;21320609;20424634;7626442;20056222;20222126;20491643;20877624;20600583;21498529;23718075;20872081;21139048;22008728;14630713;22732722;22238156;22629859;22127435;21958735;22616995;22050847;22318606;22348616;22472607;23080515;22892349;22547081;23281426;22968319 706 B1AH87;B1AH88;J3QLD3;O76068;P30536 AB076379;AB076380;AB076381;ABBA01017907;AF075589;AF075590;AMYH01012826;AY383615;AY998017;BC001110;BG749252;BG750685;BG752086;BP420304;BQ057964;BT006949;CH471138;CR456409;CR457007;L21950;L21951;L21954;M36035;NM_000714;NM_001256530;NM_001256531;NR_046308;U12421;Z82214 AAA03652;AAA18227;AAA18228;AAA83252;AAC31172;AAC31173;AAH01110;AAP35595;AAQ75703;AAY45787;ABM81639;BAC00957;BAC00958;BAC00959;CAG30295;CAG33288;EAW73288;EAW73289;EAW73290;NP_000705;NP_001243459;NP_001243460;P30536 Hs.202 1684608;2161347 RH11057;RH27789 BPBS;BZRP;DBI;IBP;MBR;PBR;PBS;PKBS;PTBR;mDRC;pk18 OTTHUMP00000197857;OTTHUMP00000197858;OTTHUMP00000198250;OTTHUMP00000198251;benzodiazepin receptor;benzodiazepine peripheral binding site;mitochondrial benzodiazepine receptor;peripheral benzodiazepine receptor;peripheral-type benzodiazepine receptor;translocator protein APPROVED protein-coding ENSG00000100300 1158 15913 109610 REVIEWED 1351486 TSPY1 testis specific protein, Y-linked 1 The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010] Y Y p11.2 9914564 9917358 + 9304564 9307358 + 1580863;2315446;2315445;2315447;6480464 16618725;17521702;16106251 21204751;19456250;8244388;18649364;3479749;8923009;1284595;18591933;17881721;17509197;17234369;16996029;16762081;16456896;16426576;16132697;16035036;15948118;15273283;15037423;14981720;14702039;14684991;12815422;12773407;12527192;12477932;11173850;11173833;10773691;10747295;10090875;9730615;9678360;9533010;8798990;7849736;1765369;19917507;19324347;19773397;20656323;21041627;20347080;21621739;21906983;22286816 7258 A4FUW6;F5H0K5;Q01534;Q540R4 AC006156;AI002165;AY130858;BC121113;M94892;M94893;M98525;NG_027958;NM_001197242;NM_003308;U58096;X06325 AAA36570;AAA61238;AAB51693;AAI21114;AAN39117;CAA29640;NP_001184171;NP_003299;Q01534 Hs.556121;Hs.647493 5111004;5113598;5113687;5125024 G38360;RH38673;RH38674;RH76258 CT78;DYS14;TSPY;pJA923 OTTHUMP00000246057;cancer/testis antigen 78;testis-specific Y-encoded protein 1 APPROVED protein-coding ENSG00000258992 12381 11852 480100 REVIEWED 1348859 TSPY2 testis specific protein, Y-linked 2 Y Y p11.2 6174264 6177053 + 6114264 6117053 + 12477932;10773691;21832049;21906983 64591 A6NGT6;A6NKD2 AC006335;AF106331;AK307425;AK308271;NM_022573 A6NKD2;AAD47421;AAI48426;NP_072095 Hs.556121;Hs.646249 5113687 RH38674 MGC103998;TSPYQ1 OTTHUMP00000038552;OTTHUMP00000038553;testis-specific Y-encoded protein 2;testis-specific Y-encoded protein Q1 protein-coding ENSG00000168757 23924 18234 PROVISIONAL 2303328 TSPY3 testis specific protein, Y-linked 3 Y Y p11.2 9975508 9978122 + 9236030 9238826 + 12477932;21906983 728137 F2Z2P0;P0CV98;Q01534 AC006156;AC006158;BC075016;BC121114;NM_001077697 AAH75016;AAI21115;NP_001071165;P0CV98 Hs.556121;Hs.730364 5113687 RH38674 OTTHUMP00000038907;OTTHUMP00000038908;testis specific protein, Y-linked 3;testis-specific Y-encoded protein 3 protein-coding ENSG00000228927 33876 VALIDATED 1603270 TSPY26P testis specific protein, Y-linked 26, pseudogene 20 20 20 q11.21 27533301 27534515 - 30240610 30241824 - 30776949 30778163 - 6480464 15489334;12477932;11780052 128854 Q9H489 ABBA01019280;AL121897;AMYH01011838;BC101556;BC101558;CH471077;NR_002781 EAW76388;Q9H489 Hs.647447 2173811;2218848;5492975 RH25411;TSPYL3__5151;UniSTS:483523 MGC126605;MGC126607;TSPYL3;bA392M18.1 APPROVED pseudo ENSG00000235217 16256 18235 PROVISIONAL 3497487 TSPY4 testis specific protein, Y-linked 4 Y Y p11.2 9235077 9237888 + 9175119 9177887 + 12477932;14702039;16344560;21906983 728395 A6NEC3;P0CV99;P0CW01 AA608988;AC006158;AK093413;BX281192;DB035368;DB476671;NM_001164471 BAC04156;NP_001157943;P0CV99 Hs.556121;Hs.646249;Hs.647493;Hs.730364 5113687;5125997 RH38674;sY1256 FLJ36094;TSPY10;TSPY8 OTTHUMP00000038903;OTTHUMP00000038904;testis specific protein, Y-linked 1-like;testis-specific Y-encoded protein 4 protein-coding ENSG00000233803 37287 VALIDATED 1322624 TSPYL5 TSPY-like 5 8 8 8 q22.1 94471979 94476441 - 98354890 98359352 - 98285714 98290176 - 737633;6480464 12477932 18059362;14702039;11214970;20079711;17207965;21170034;21139048;21906983;23000965;23518928 85453 Q86VY4 AB051537;ABBA01037500;AK091445;AK092272;AL080059;AMYH01018910;AP003113;AP003115;BC045630;CH471060;NM_033512 AAH45630;ADQ32976;BAB21841;BAG52362;EAW91759;NP_277047;Q86VY4 Hs.173094 1667141;1669874;1672222;2113892 AB050517;RH12019;SHGC-32191;STS-AA033739 KIAA1750 OTTHUMP00000227724;TSPY-like protein 5;testis-specific Y-encoded-like protein 5 protein-coding ENSG00000180543 29367 15576 614721 VALIDATED 1346364 TSPYL2 TSPY-like 2 This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009] X X p11.2 53128290 53134447 + 53111542 53117728 + 1580863;6480464 21204751;11395479;18381359;17317670;17069459;16713569;16381901;16079131;15489336;15066269;12477932;11318608;11230166;11149944;11076863;11256614;15823505;16344560;18649364;20186459;21890473;21906983;22038794;18591933;18029348;21829568 64061 J3KS33;J3KST2;Q9H2G4 AB015345;AB209182;ABBA01056365;ABBA01056366;AF254794;AF273046;AI208075;AK131220;AK292462;AL713652;AMYH01022419;AY040871;BC001566;BC024270;BX322635;CH471154;DA076199;NG_013267;NM_022117 AAG34906;AAG53596;AAH01566;AAH24270;AAK72407;BAA34802;BAD92419;BAF85151;BAG54754;CAD28461;CAL37594;EAW93143;EAW93144;NP_071400;Q9H2G4 Hs.136164;Hs.592916 1680581;1702884;1739689;1796726 DXS1008E;DXS7563;RH99258;SE20-4_1202 CDA1;CINAP;CTCL;DENTT;HRIHFB2216;NP79;SE20-4;SE204;TSPX CASK-interacting nucleosome assembly protein;CTCL tumor antigen se20-4;CTCL-associated antigen se20-4;OTTHUMP00000023335;TSPY-like protein 2;cell division autoantigen 1;cutaneous T-cell lymphoma-associated antigen se20-4;cutaneous T-cell lymphoma-associated tumor antigen se20-4;differentially expressed nucleolar TGF-beta1 target;differentially-expressed nucleolar TGF-beta1 target protein;nuclear protein of 79 kDa;testis-specific Y-encoded-like protein 2;testis-specific protein Y encoded-like 2 APPROVED protein-coding ENSG00000184205 24358 06713 300564 REVIEWED 1603148 TSPYL6 TSPY-like 6 2 2 2 p16.2 54321192 54324286 - 54333819 54336913 - 54480315 54483409 - 6480464 16344560;12477932 388951 Q8N831 ABBA01075249;AC073879;AK097417;AL117628;AMYH01010358;BC068576;CH471053;DB073493;HC007362;HC044761;NM_001003937 AAH68576;BAC05043;CBH19486;CBH30710;EAX00158;NP_001003937;Q8N831 Hs.620508 1681482 RH92612 DKFZp434B125 OTTHUMP00000214323;TSPY-like protein 6;testis-specific Y-encoded-like protein 6 protein-coding ENSG00000178021 14521 11652 VALIDATED 6481133 TSSC1-IT1 TSSC1 intronic transcript 1 (non-protein coding) 100874301 AC073502 miscrna 41392 1348033 TSSC2 tumor suppressing subtransferable candidate 2 9403053 7261 12384 608999 1348944 TSPYL1 TSPY-like 1 The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009] 6 6 6 q22.1 117339059 117344311 - 116704437 116707973 - 116596022 116601280 - 1599672;1580863;6480464;7240710 15273283 11256614;16952470;16418600;15489334;14702039;12477932;12429849;11230166;9730615;16169070;19463995;19596235;16712791;21832049;18029348;21139048;21890473;21906983;21963094;19322201;22137496;22053931 7259 B4DN10;Q9H0U9 ABBA01026046;AF042181;AI861791;AJ420580;AK026849;AK096882;AL050331;AL136629;AMYH01016617;BC048969;BC068554;CB126996;CH471051;CR533535;NG_016217;NM_003309 AAC62384;AAH48969;CAB66564;CAG38566;EAW48232;NP_003300;Q9H0U9 Hs.458358;Hs.744135 1656914;1658271;2151671;5037552 1890;D8S2279;RH46654;WI-11947 TSPYL OTTHUMP00000017052;TSPY-like protein 1;testis-specific Y-encoded-like protein 1;testis-specific-like protein, Y encoded APPROVED protein-coding 12382 604714;608800 REVIEWED 1315389 TSPYL4 TSPY-like 4 6 6 6 q22.1 117314164 117318298 - 116677820 116681954 - 116571127 116575261 - 6480464 16189514;15489334;14702039;14574404;12477932;12421765;9872452;21139048 23270 Q69YV8;Q9UJ04 AB018264;ABBA01026047;AJ420569;AK091559;AK302542;AL050331;AL134793;AL137639;AMYH01016617;BC009116;BC040453;CH471051;NM_021648 AAH09116;BAA34441;BAG63814;CAH10705;EAW48235;NP_067680;Q9UJ04 Hs.284141 1670327;1674673;1846600;2138057 A002U47;D6S1182E;D6S1212E;WI-13824 KIAA0721;dJ486I3.2 OTTHUMP00000017057;TSPY-like protein 4;testis-specific Y-encoded-like protein 4 protein-coding ENSG00000187189 21559 18236 VALIDATED 1602842 TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) X X X p11.22 58299414 58304291 + 54483578 54488455 + 54466853 54471730 + 6480464 16189514;12477932;9417904;17207965;19060904;19615732;21790011;19471022;21890473 90121 Q969E8 ABBA01069630;ABBA01069631;AMYH01022430;BC007699;BC011825;CH471154;NM_058163;U92980;Z85987 AAH07699;AAH11825;ADQ33183;EAW93177;EAW93178;NP_477511;Q969E8 Hs.522662 1643612;1661803;1681668;2183592 G35013;RH75708;SGC30464;SHGC-24021 DT1P1A10;MGC20451;RP1-112K5.2;WGG1 OTTHUMP00000023373;WGG motif containing 1;pre-rRNA-processing protein TSR2 homolog protein-coding ENSG00000158526 25455 06493 PROVISIONAL 1353960 TSSK1A testis-specific serine kinase 1A pseudogene 22 22 22 q11.21 2964455 2965404 + 17492431 17493380 + 19112431 19113380 + 1580863 15733851;15489334;15044604;11264466;10591208;8776594;21326311 23752 ABBA01005425;AC004471;AMYH01012475;L77570;NG_004670;NG_021333 SPOGA1;STK22A;TSSK1;TSSK1b;TSSK7P serine/threonine kinase 22a (spermiogenesis associated) pseudo 11400 INFERRED 1603994 TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 17 17 17 p13.3 2242076 2256780 - 2172722 2187428 - 2225972 2240678 - 6480464 17353931;14702039;7791754;12477932;10718198;21145461;22586326;19584346;20805244;22863883;22990118;22939629;21252943;19471022;20360068;21139048;21906983;21907836 55720 I3L1Q5;I3L4E8;I3L4T0;Q2NL82 AB037822;ABBA01054701;AK001396;AK026565;AL450226;AMYH01008012;BC019090;BC110851;BC126110;CH471108;NM_018128 AAH19090;AAI10852;AAI26111;BAA91667;BAA92639;EAW90548;EAW90549;EAW90550;EAW90551;EAW90552;NP_060598;Q2NL82 Hs.388170 1652759;1734426;1746077;2122304;2140500;2165600;2184645;5014051;5015322;5015619;5015861;5020948;5022200;5022651;5037552;5093600;5116670;7185938 A009S27;D10S16;D10S512;D11S2921;D11S3114;D17S1400E;D17S1682;D8S2278;D8S2279;G32814;G35510;G54858;HSC2GF012;IB3555;L18426;RH47913;sY3122 FLJ10534;KIAA1401;MGC131829 pre-rRNA-processing protein TSR1 homolog protein-coding ENSG00000167721 25542 07681 611214 VALIDATED 1352414 TSR3 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) 16 16 16 p13.3 1613356 1615988 - 1339242 1341874 - 1399241 1401873 - 6480464 15616553;15489334;12477932;11157797;21890473;21906983;21963094;23000965 115939 H3BQD4;Q9UJK0 ABBA01030310;AE006467;AL031709;AMYH01007032;BC011785;BC013943;BC016699;BC017325;CH471112;NG_016985;NM_001001410 AAH13943;AAH16699;AAH17325;AAK61276;EAW85669;NP_001001410;Q9UJK0 Hs.134846 1656992 RH70716 C16orf42;MGC24381 OTTHUMP00000045502;hypothetical protein LOC115939;probable ribosome biogenesis protein C16orf42;ribosome biogenesis protein TSR3 homolog APPROVED protein-coding ENSG00000007520 14175 14496 VALIDATED 3340339 TSSK5P1 testis-specific serine kinase 5 pseudogene 1 8 8 8 q24.3 141539036 141541836 - 145267755 145270555 - 145195767 145198567 - 20210993 648630 ABBA01005223;AC104592;NG_017084 2151414 RH11627 TSSKps1 pseudo 31931 INFERRED 3476308 TSSK5P2 testis-specific serine kinase 5 pseudogene 2 8 8 8 q24.3 141539036 141541836 - 145411783 145414583 - 145440975 145443775 - 100131992 AC110280;AMYH01019129;NG_016786 2151414 RH11627 pseudo 30274 INFERRED 1314080 TSSC1 tumor suppressing subtransferable candidate 1 This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008] 2 2 2 p25.3 3247171 3432956 - 3171750 3360605 - 3192741 3381653 - 6480464 17353931;16344560;15815621;15489334;12477932;9925925;9403053;8125298;21139048;21906983;22505724;22797925 7260 A8MUM1;C9J0U9;C9JVR6;D3YTH5;F8WB12;F8WDS8;F8WDX0;Q53HC9 ABBA01013721;ABBA01013722;AC019118;AC073502;AF019952;AK026522;AK126288;AK222652;AMYH01010069;BC002485;CH471053;DA349228;NM_003310;R15788 AAC51911;AAH02485;AAY24193;AAY24338;ABM83619;ABM86862;BAD96372;EAX01070;EAX01071;NP_003301;Q53HC9 Hs.502770 1645988;1698626;1725635;1847340;2109997;2155145;2182230 A002Q11;AFMB316YF9;D2S2891;G62029;RH102869;RH11737;TSSC1_8692 OTTHUMP00000115381;OTTHUMP00000199995;protein TSSC1;tumor-suppressing STF cDNA 1 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein APPROVED protein-coding ENSG00000032389 12383 10287 608998 VALIDATED 1316004 TSSC4 tumor suppressing subtransferable candidate 4 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. [provided by RefSeq, Jul 2008] 11 11 11 p15.5 2458330 2459913 + 2380099 2381682 + 2423523 2425106 + 6480464 17081983;15489334;15302935;12477932;10915772;10072438;16169070;17207965;21832049;22939629;20360068;21900206;21044950 10078 A6NCC9;C9JDU0;C9JHT9;C9JJV1;E9PL88;E9PME3;Q9Y5U2 ABBA01032092;AC124057;AF125568;AMYH01003321;BC006091;BC050616;CH471158;NM_005706 AAD23579;AAH06091;AAH50616;ADQ32652;EAX02510;EAX02511;EAX02512;EAX02513;NP_005697;Q9Y5U2 Hs.523424 1697970 RH102514 OTTHUMP00000011533;OTTHUMP00000011534;OTTHUMP00000229010;protein TSSC4;tumor-suppressing STF cDNA 4 protein;tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein APPROVED protein-coding ENSG00000184281 12386 10357 603852 REVIEWED 1346117 TSTA1 tissue specific transplantation antigen 1 94020 16295 1354075 TSTA2 tissue specific transplantation antigen 2 94019 16296 1605025 TSSK1B testis-specific serine kinase 1B TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] 5 5 5 q22.2 108716065 108718542 - 112796570 112798565 - 112768251 112770728 - 6480464 15733851;16344560;15761153;15044604;14702039;12556502;12477932;22939624;23258646;19530700 83942 A0ZT98;Q9BXA7 AB284522;ABBA01069045;AC010431;AF348076;AK122904;AK313332;AMYH01015550;AY028964;BC022515;CH471086;DB025324;DB527624;HC007364;HC044763;NG_012265;NM_032028 AAH22515;AAK27734;AAK29413;ABM84574;ABM86529;BAF41973;BAG36136;BAG53792;CBH19487;CBH30711;EAW48983;NP_114417;Q9BXA7 Hs.519507 FKSG81;SPOGA4;STK22D;TSK1;TSSK1 OTTHUMP00000159055;TSK-1;TSSK-1;serine/threonine kinase 22D (spermiogenesis associated);serine/threonine kinase FKSG81;serine/threonine-protein kinase 22A;spermiogenesis associated 4;testis-specific kinase 1;testis-specific serine kinase 1;testis-specific serine/threonine-protein kinase 1 APPROVED protein-coding ENSG00000212122 14968 11610 610709 VALIDATED 1606567 TSSK2 testis-specific serine kinase 2 TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] 22 22 22 q11.21 2970345 2972160 + 17498790 17500136 + 19118321 19120136 + 6480464 9412477;15044604;15489334;15461802;12477932;11591653;10591208;8776594;18533145;19926886;21832049;22939629;21988832;22939624;23258646 23617 A0ZT99;Q96PF2 AB284523;ABBA01005424;AC004471;AF362953;AMYH01012475;BC037781;CH471176;CR456587;HC044659;L77564;NG_008320;NM_053006 AAH37781;AAK98531;BAF41974;CAG30473;CBH30659;EAX03058;NP_443732;Q96PF2 Hs.694070 2109895;2112184 D22S1572;STK22B_9383 DGS-G;FLJ38613;SPOGA2;STK22B;TSK2 OTTHUMP00000196362;TSK-2;TSSK-2;diGeorge syndrome protein G;serine/threonine kinase 22B (spermiogenesis associated);serine/threonine-protein kinase 22B;spermiogenesis associated 2;testis specific serine threonine kinase 2;testis-specific kinase 2;testis-specific serine/threonine-protein kinase 2 APPROVED protein-coding ENSG00000206203 11401 10255 610710 VALIDATED 1347200 TSSK3 testis-specific serine kinase 3 This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008] 1 1 1 p35-p34 31098338 31100402 + 32600449 32602513 + 32827862 32829926 + 1580863 16336268;15761153;15489334;12477932;11597141 81629 I3L1X4;Q96PN8 ABBA01023428;AF296450;AL109945;AMYH01000467;AY048701;BC035354;BF509953;CH471059;NM_052841 AAH35354;AAK97141;AAL02128;ABM82252;ABM85436;EAX07531;EAX07532;NP_443073;Q96PN8 Hs.512763 1697428;1743375;2219726 GDB:315593;RH102214;STK22C__5341 SPOGA3;STK22C;STK22D;TSK3 OTTHUMP00000008862;TSK-3;TSSK-3;serine/threonine kinase 22c (spermiogenesis associated);serine/threonine-protein kinase 22C;spermiogenesis associated 3;testis-specific kinase 3;testis-specific serine/threonine kinase 22C;testis-specific serine/threonine-protein kinase 3 APPROVED protein-coding ENSG00000162526 15473 09635 607660 REVIEWED 6769372 TSTD3 thiosulfate sulfurtransferase (rhodanese)-like domain containing 3 6 q16.2 99968870 99981061 + 100130890 H0UI37 ABBA01014480;AL137784;AMYH01016537;BX647075;CH471051;DN996863;NM_001195131 EAW48463;EAW48464;H0UI37;NP_001182060 Hs.634506 5021872;5022578;5022588;5100462;5109281 D17S629;D1S1423;D1S1425;D5S1597E;sY3084 rhodanese domain-containing protein 3;thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3;uncharacterized protein LOC100130890 protein-coding 40910 VALIDATED 1345321 TSSK4 testis-specific serine kinase 4 This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 14 14 14 q12 4539396 4541924 + 23744802 23747294 + 24674926 24677454 + 6480464 15964553;18390560;15761153;15489334;14702039;12477932;18452650;20378615 283629 H0YJ36;H0YJB1;H7C3J1;Q6SA08 ABBA01061337;AF542390;AK131042;AL136295;AMYH01005610;AY461663;BC029918;BC111088;CH471078;NM_001184739;NM_174944 AAI11089;AAN62841;AAS17971;BAC85482;BAI46175;EAW66069;EAW66070;EAW66071;NP_001171668;NP_777604;Q6SA08 Hs.314432 1684542;1754407;2128778;2156618 G35868;RH98373;SHGC-132422;SHGC-31269 C14orf20;MGC133264;STK22E;TSK-4;TSK4;TSSK5 OTTHUMP00000028170;OTTHUMP00000164704;OTTHUMP00000244227;OTTHUMP00000244231;chromosome 14 open reading frame 20;serine/threonine kinase 22E;serine/threonine-protein kinase 22E;testis-specific serine/threonine-protein kinase 4 APPROVED protein-coding ENSG00000139908 19825 12642 610711 REVIEWED 1322057 TSTD2 thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 9 9 9 q22.33 70876618 70910219 - 99402183 99435783 - 100362362 100395962 - 737633;6480464 12477932 16344560;15498874;15489334;15164053;15146197;14702039;21906983 158427 Q5T7W7;Q5T7W9;Q5T7X0;Q5T7X1 ABBA01042929;ABBA01042930;AF258575;AK056453;AK056752;AK094043;AK122809;AK128615;AK291199;AL162385;AMYH01021555;BC022958;BC035604;BU625565;BX538308;BX648493;CH471105;CN298691;DA735730;NM_139246 AAG23778;AAH22958;AAH35604;BAB71188;BAB71271;BAC87530;BAF83888;BAG53739;EAW58848;EAW58849;EAW58850;EAW58851;NP_640339;Q5T7W7 Hs.723236 1687906;1775883;1850950;2107683;2153885 D9S1702;RH78518;RH93155;STS-M77016;TMOD1__5100 C9orf97;FLJ36724;RP11-244N9.5 OTTHUMP00000021746;PP4189;rhodanese domain-containing protein 2;thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 APPROVED protein-coding ENSG00000136925 30087 16679 VALIDATED 1605019 TSSK6 testis-specific serine kinase 6 This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012] 19 19 19 p13.11 19529087 19530528 - 19486028 19487469 - 19625028 19626469 - 6480464 15870294;15489334;15044604;14702039;12477932;20037600;21832049;22939624 83983 Q9BXA6;R4GMZ2 AA608857;ABBA01051334;AC011448;AF329483;AF348077;AK058166;AK172841;AK313767;AMYH01009609;BC014611;CH471106;NG_013380;NG_033078;NM_032037 AAH14611;AAK29414;AAK48827;ABM82529;ABM85723;BAB71697;BAD18805;BAG36505;EAW84824;EAW84825;NP_114426;Q9BXA6 Hs.532711;Hs.666780 5095018 TSSK6 CT72;FKSG82;FLJ24002;SSTK;TSSK4 TSK-6;TSSK-6;cancer/testis antigen 72;serine/threonine protein kinase SSTK;serine/threonine-protein kinase SSTK;small serine/threonine kinase;testis-specific kinase 6;testis-specific serine/threonine-protein kinase 6 APPROVED protein-coding 30410 15441 610712 REVIEWED 735470 TST thiosulfate sulfurtransferase (rhodanese) This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] 22 22 q13.1 35736852 35745437 - 37406900 37416224 - 1580863;6480464;6907045 15153070;16343079;16500920;16790311;1691817;6573305;6928732;8254022;8404072;9070219;18029348;17035239;15910006;15489334;15461802;14702039;12962704;12665801;12477932;11788560;11112515;10591208;8340386;19695240;21175961;21685364;21922874;3178139;8125298;6588145;6402020;3479705;3471602;2817794;2006499;1451437;986188;20099848;20663881;20877624;22939629;21890473 7263 B1AH48;Q16762 ABBA01055458;ABBA01055459;AI869664;AK000862;AK091874;AK223521;AK301300;AMYH01012753;AW070418;BC010148;BI820468;BQ231617;CH471095;CR456598;CR456998;D87292;NG_027994;NM_001270483;NM_003312;Z73420 AAH10148;BAA13327;BAD97241;BAG52433;BAG62856;CAG30484;CAG33279;CAK54629;CAK54928;EAW60132;NP_001257412;NP_003303;Q16762 Hs.474783 1747425;2108611;2142118 D22S317E;G65336;TST_8693 MGC19578;RDS OTTHUMP00000197761;rhodanese;thiosulfate sulfurtransferase APPROVED protein-coding ENSG00000128311 12388 01583 180370 REVIEWED 2859136 TSTD1 thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 1 1 1 q23.3 134074692 134076045 - 159274042 159275372 - 161007421 161008774 - 6480464 19913121;20628086;10395639;11087121;11181995;11752456;12107413;12477932;12665801;12817473;15489334;16337094;16710414;21845542 100131187 Q8NFU3;R4GNF9 ABBA01016602;AF439442;AL591806;AMYH01001456;AV688621;BC001699;BC038219;CD675389;CH471121;NG_011612;NM_001113205;NM_001113206;NM_001113207 AAH01699;AAM69839;AAM69840;EAW52679;NP_001106676;NP_001106677;NP_001106678;Q8NFU3 Hs.720030 1685243;2152999 RH70346;RH94217 KAT KAT protein;OTTHUMP00000029699;OTTHUMP00000029700;OTTHUMP00000029701;OTTHUMP00000029702;putative thiosulfate sulfurtransferase KAT;thiosulfate sulfurtransferase KAT, putative;thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 1 protein-coding ENSG00000215845 35410 VALIDATED 1350960 TTBK1 tau tubulin kinase 1 6 6 6 p21.1 44763431 44808208 + 43319200 43363975 + 43211222 43255997 + 6480464 17353931;19118186;15489334;14702039;14574404;12477932;11347906;7556643;20096481;18029348;23088643;21219968 84630 Q5TCY1 AB058758;AB218664;ABBA01050690;ABBA01050691;ABBA01050692;AK055425;AK131217;AL133375;AL833256;AMYH01016311;AMYH01016312;BC036764;CH471081;NM_032538 AAH36764;AAI56453;AAI72528;BAB47484;BAD18405;BAE78660;EAX04167;EAX04168;EAX04169;NP_115927;Q5TCY1 Hs.485436 1339242;1735624;1788806 D6S1232E;D6S282;RH140426 BDTK;KIAA1855;RP3-330M21.4 OTTHUMP00000016425;OTTHUMP00000180668;brain-derived tau kinase;tau-tubulin kinase 1 protein-coding ENSG00000146216 19140 11653 VALIDATED 1315979 TSTA3 tissue specific transplantation antigen P35B Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008] 8 8 8 q24.3 141005027 141009971 - 144765933 144770038 - 144694788 144699732 - 1580863;6480464;6907045 11698403;8910301;9525924;19027726;15489334;14702039;12477932;7803801;1348494;16712791;17207965;23314748;22863883;22939629;18781797;19953087;21139048;21906983;22528125;22505724;22944692 7264 E9PKL9;E9PLH9;E9PP14;E9PP60;H0YCP7;H0YE90;Q13630 ABBA01005246;AC067930;AK096752;AK303125;AK313560;AMYH01019111;BC001941;BC093061;BF223661;CB132195;CH471162;GM744697;NM_003313;U58766 AAC50786;AAH01941;AAH93061;ADQ32304;BAG36334;BAG53358;BAG64231;CAV31711;EAW82217;EAW82218;EAW82219;EAW82220;EAW82221;EAW82222;NP_003304;Q13630 Hs.404119 1683078;1694480 G42973;RH17920 FX;P35B;SDR4E1 3-5 epimerase/4-reductase;GDP-4-keto-6-deoxy-D-mannose epimerase-reductase;GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase;GDP-L-fucose synthase;OTTHUMP00000228670;OTTHUMP00000228671;OTTHUMP00000228672;Tissue-specific transplantation antigen-3;protein FX;red cell NADP(H)-binding protein;short chain dehydrogenase/reductase family 4E, member 1;short-chain dehydrogenase/reductase family 4E member 1;tissue specific transplantation antigen 3 APPROVED protein-coding ENSG00000104522 12390 00654 137020 REVIEWED 1347811 TTBK2 tau tubulin kinase 2 This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009] 15 15 q15.2 40823828 41000299 - 43036536 43213007 - 1580863;6480464;7240710 10048485;8889548;17353931;18037885;15489334;15148151;14702039;12477932;12434312;10417284;20667868;17620722;19533200;19768375;20379614;20301723;23141541;22020623;16196087;22863007;15717329;20360068;21906983;21628590;21145461;22814243 146057 H3BMY7;H3BQ25;H3BTY5;Q6IQ55;Q8IWY7 AB020654;ABBA01038358;ABBA01038359;ABBA01038360;ABBA01038361;ABBA01038362;ABBA01038363;ABBA01038364;ABBA01038365;AC068727;AC090510;AC090514;AF525400;AK131372;AMYH01006585;AMYH01006586;BC041876;BC071556;CB242184;CH471125;NG_012664;NM_173500 AAH41876;AAH71556;AAO14996;BAA74870;BAD18523;EAW92581;EAW92582;EAW92583;NP_775771;Q6IQ55 Hs.646511;Hs.727864 1340891;1341729;1684084;1708346;1736728;1736736;1736758;1736790;2111250;2178223 D15S1016;D15S146;D15S497;D15S749;D15S753;D15S765;D15S780;RH44835;RH93724;SHGC-81108 KIAA0847;SCA11;TTBK spinocerebellar ataxia 11;tau-tubulin kinase 2 APPROVED protein-coding 19141 10288 604432;611695 REVIEWED 1321657 TTC16 tetratricopeptide repeat domain 16 9 9 9 q34.11 101129250 101144749 + 129518179 129533700 + 130478358 130493879 + 737633;1580863;6480464 12477932 15489334;15164053;14702039 158248 B4DYG4;Q8NEE8 ABBA01043840;ABBA01043841;ABBA01043842;AK057342;AK074105;AK128011;AK294862;AK302422;AK302737;AL162426;AMYH01021732;AMYH01021733;BC031281;BC032411;CH471090;NM_144965 AAH31281;ADZ15699;BAB71437;BAB84931;BAC87231;BAG57966;BAG63726;BAG63954;EAW87687;EAW87688;EAW87689;NP_659402;Q8NEE8 Hs.642748 5118576 D11S3430 FLJ32780;RP11-56D16.6 OTTHUMP00000022195;TPR repeat protein 16;tetratricopeptide repeat protein 16 protein-coding ENSG00000167094 26536 15581 PROVISIONAL 1320720 TTC14 tetratricopeptide repeat domain 14 3 3 3 q26.33 178752041 178761041 + 181802625 181811595 + 180319918 180328918 + 737633;1580863;6480464 12477932 16344560;16189514;15489334;14702039;12975309;11853319;20379614;22505724 151613 C9J974;C9JBA2;C9JCY7;F8WDA3;F8WDH5;Q69YS0;Q86TA5;Q96N46 AB075860;ABBA01058515;AC068298;AI742462;AI811067;AK055984;AL832052;AL832310;AL833086;AL833103;AMYH01013691;AY358762;BC027990;BX474122;BX648669;CH471052;DA283647;NM_001042601;NM_133462 AAH27990;AAQ89122;ACE87800;ACT64543;BAB71064;BAB85566;CAD89930;CAH10404;EAW78376;EAW78377;EAW78378;NP_001036066;NP_597719;Q96N46 Hs.43213 1687135;2182210 RH94147;STS-N22566 DKFZp313M1015;DRDL5813;FLJ00166;KIAA1980;PRO19630 OTTHUMP00000212528;OTTHUMP00000212529;OTTHUMP00000212531;OTTHUMP00000212532;TPR repeat protein 14;tetratricopeptide repeat protein 14 protein-coding ENSG00000163728 24697 15579 VALIDATED 1345432 TTC1 tetratricopeptide repeat domain 1 5 5 5 q33.3 155467734 155524106 + 159368758 159425128 + 159436180 159492550 + 1580863;6480464 8836031;16189514;15761153;15489334;14503850;12748287;12477932;8125298;14985359;9383998;20936779;22939629;23067341;22711498;21486497;22863883;21139048;21906983;21987572;18654987;22779921;22505724 7265 H0YB37;Q99614 ABBA01044232;ABBA01044233;ABBA01044234;ABBA01044235;AC008706;AC068657;AK128840;AK222641;AK222984;AK315262;AMYH01015758;AMYH01015759;BC000942;CH471062;NM_003314;U46570 AAB36871;AAH00942;ABM81919;ABM85097;BAD96361;BAD96704;BAG37679;EAW61570;EAW61571;NP_003305;Q99614 Hs.519718 1772336;2111910;2156504;5015404;5016478 A002Q13;D5S2519;GDB:434012;L17705;RH45601 FLJ46404;TPR1 OTTHUMP00000160843;OTTHUMP00000224232;TPR repeat protein 1;tetratricopeptide repeat protein 1 protein-coding ENSG00000113312 12391 11881 601963 PROVISIONAL 1316851 TTC18 tetratricopeptide repeat domain 18 10 10 10 q22.2 68299139 68404237 - 74683526 74788618 - 75013516 75118617 - 737633;6480464 12477932 14702039;16385451 118491 Q8NI30 ABBA01020329;ABBA01020330;ABBA01020331;ABBA01020332;AC016394;AF435958;AF435959;AI458159;AK022235;AK098631;AK308746;AL512656;AL833537;AMYH01002827;AMYH01002828;BC032856;CH471083;NM_145170 AAH32856;AAM20909;AAM20910;ADZ16039;BAC05358;CAH10391;EAW54488;EAW54489;EAW54490;EAW54491;EAW54492;NP_660153;Q5T0N1 Hs.591367;Hs.720588 2176750;2181321;5022578;5037552 D1S1423;D8S2279;G30087;RH47852 FLJ12173;FLJ25765;RP11-152N13.6 OTTHUMP00000019804;TPR repeat protein 18;tetratricopeptide repeat protein 18;tetratricopeptide repeat-containing protein;tetratricopeptide repeat-containing protein (LOC118491) protein-coding ENSG00000156042 30726 15583 VALIDATED 1313426 TTC17 tetratricopeptide repeat domain 17 11 11 11 p11.2 43527449 43663453 + 43337067 43472078 + 43380435 43516483 + 737633;1580863;6480464 12477932 15761153;15489334;14702039;16344560;20379614;21139048;21906983 55761 E9PN79;G3XAB3;H0Y6S0;Q49A97;Q96AE7 ABBA01060780;AC023085;AC087276;AF161431;AK001540;AK001752;AK023161;AK026217;AK074253;AK124380;AMYH01003518;AW070863;BC017238;BC033000;BC041893;BX640972;CH471064;DA106610;NM_018259 AAF28991;AAH17238;AAH33000;AAH41893;BAA91747;BAA91883;BAB14438;CAE45987;EAW68092;EAW68093;EAW68094;EAW68095;EAW68096;NP_060729;Q96AE7 Hs.191186 1646210;1646212;1658555;2119446;2121429;2126255;2132219;2150647;2164908 A006G11;D11S4720;G20781;RH45133;SGC31982;SGC44667;SHGC-33396;SHGC-44667;STS-AA010247 DKFZp686D20222;FLJ10890;FLJ13099;FLJ23673 OTTHUMP00000232806;OTTHUMP00000240277;TPR repeat protein 17;tetratricopeptide repeat protein 17 protein-coding ENSG00000052841 25596 15582 VALIDATED 1347109 TTC12 tetratricopeptide repeat domain 12 11 11 11 q23.2 110338185 110390045 + 112690461 112742324 + 113185251 113237114 + 1580863;6480464 12477932;8125298;18828801;17761687;17657212;17085484;16344560;15489334;14702039;12964006;21168125;20133381;16196087;21139048 54970 A8K8G6;A8MTE9;C9J1D2;C9JPY5;C9JYU1;E9PIB6;E9PIS6;E9PJI9;E9PKU6;E9PP06;H0YDB4;H0YEF6;J3KR69;Q53G14;Q9H892 ABBA01039789;AK000542;AK023921;AK091887;AK125909;AK223117;AK292331;AMYH01004038;AP000880;AP002840;BC011546;BC019086;BC032355;CH471065;DB110945;EF445041;NM_017868 AAH32355;ACA06092;ACA06093;BAA91242;BAB14725;BAD96837;BAF85020;EAW67210;EAW67211;EAW67212;EAW67213;EAW67214;NP_060338;Q9H892 Hs.288772 1664895;1687081;1726887;1736969;1752351;2166133 D11S1046;D11S2681;G62686;RH48107;RH92778;SHGC-106267 FLJ13859;FLJ20535;TPARM OTTHUMP00000183510;OTTHUMP00000183512;OTTHUMP00000233106;OTTHUMP00000236463;TPR repeat protein 12;tetratricopeptide repeat protein 12;tetratricopeptide repeat protein 12 variant 1;tetratricopeptide repeat protein 12 variant 2 protein-coding ENSG00000149292 23700 15577 610732 VALIDATED 1320938 TTC13 tetratricopeptide repeat domain 13 1 1 1 q42.2 204307932 204380251 - 229108613 229181207 - 231041987 231114618 - 1580863;6480464 16344560;16303743;15489334;14702039;12477932;22268729 79573 E5RG15;E5RHB3;E5RJP6;E9PGV4;H0YB10;H0YBV3;Q8NBP0 ABBA01033031;ABBA01033032;AK026237;AK074365;AK075386;AK075561;AK309725;AL591292;AL832286;AL834453;AL844165;AMYH01001816;AW613930;BC042683;BC047662;BC110880;CH471098;CS051183;DA468037;DA741498;DA752300;EL946523;NM_001122835;NM_024525 AAH42683;BAB15407;BAC11586;BAC11700;CAD39113;CAH10599;CAI72087;EAW69929;EAW69930;EAW69931;EAW69932;EAW69933;NP_001116307;NP_078801;Q8NBP0 Hs.424788 1666517;1696660;1712757;2161016 RH120092;SHGC-58829;SHGC-82968;STS-T79190 FLJ22584 OTTHUMP00000035913;OTTHUMP00000035914;TPR repeat protein 13;tetratricopeptide repeat protein 13 protein-coding ENSG00000143643 26204 15578 VALIDATED 1602975 TTC24 tetratricopeptide repeat domain 24 1 1 1 q23.1 129620311 129627354 + 154818481 154823526 + 156549519 156556562 + 11181995 164118 A2A3L6;H0Y5S5;H3BLU9 ABBA01016654;AL365181;AMYH01001437;AW628680;BQ216668;BX414790;CH471121;NM_001105669 A2A3L6;EAW52944;NP_001099139 Hs.447851 FLJ20249 OTTHUMP00000031983;OTTHUMP00000083484;TPR repeat protein 24;tetratricopeptide repeat protein 24 protein-coding ENSG00000187862 32348 PROVISIONAL 1344161 TTC21B tetratricopeptide repeat domain 21B This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011] 2 2 2 q24.3 160340419 160420342 - 166438699 166518594 - 166729872 166810348 - 737633;1580863;6480464 12477932 16344560;14702039;12056414;21068128;21258341;22118674;21139048;20301500;21963094;22797925 79809 A8KA77;H9KV93;Q9HAK8 AB073395;ABBA01004925;ABBA01004926;ABBA01004927;AC009495;AC010127;AC011241;AC011303;AC019140;AC108031;AK057268;AK096451;AK292942;AMYH01011229;BC035767;BC055424;BC063579;BX114229;BX647903;CH471058;CK905149;DA798655;NG_030345;NM_024753 AAH35767;AAH55424;AAH63579;AAY14750;BAB71404;BAE45724;BAF85631;BAG53294;EAX11321;EAX11322;NP_079029;Q7Z4L5 Hs.310672 1667618;1725001;2123711;5022578;5037552 D1S1423;D8S2279;RH118796;RH16316;STS-AA034916 ATD4;FLJ11457;IFT139;JBTS11;NPHP12;Nbla10696;THM1 OTTHUMP00000205022;TPR repeat protein 21B;putative protein product of Nbla10696;tetratricopeptide repeat protein 21B APPROVED protein-coding ENSG00000123607 25660 07752 612014;613819;613820 REVIEWED 1605998 TTC22 tetratricopeptide repeat domain 22 This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011] 1 1 1 p32.3 53534348 53554537 - 55022812 55039459 - 55246752 55266941 - 6480464 8889548;16710414;14702039 55001 H0Y486;Q5TAA0 ABBA01074707;AC096536;AI923972;AK000626;AL049431;AL139244;AMYH01000640;AW170453;AW195337;BM929669;CH471059;NG_029054;NM_001114108;NM_017904 BAA91293;EAX06667;EAX06668;NP_001107580;NP_060374;Q5TAA0 Hs.16230 2115587;2174867 AF021110;D1S3129 FLJ20619 OTTHUMP00000011560;OTTHUMP00000011561;TPR repeat protein 22;tetratricopeptide repeat protein 22 APPROVED protein-coding ENSG00000006555 26067 07932 REVIEWED 1348204 TTC21A tetratricopeptide repeat domain 21A 3 3 3 p22.2 39089656 39120906 + 39124156 39155398 + 39149152 39180394 + 1580863;6480464 16344560;14702039;12477932 199223 F8WDN4;Q8NA02 AA843452;ABBA01024812;AC092053;AC138124;AJ487015;AK022483;AK093313;AK098528;AK299774;AK302408;AK302465;AMYH01013097;BC039691;BC062621;BC129948;BX647142;CH471055;DB094952;DC403032;NM_001105513;NM_145755 AAI29949;BAC04129;BAC05323;BAG61657;BAG63718;BAG63755;CAD31647;EAW64561;EAW64562;EAW64563;EAW64564;NP_001098983;NP_665698;Q8NDW8 Hs.443935 2112656 D3S4389 DKFZp686P18239;MGC156293;MGC70523;STI2 OTTHUMP00000209000;OTTHUMP00000209001;OTTHUMP00000226206;TPR domain containing STI2;TPR repeat protein 21A;stress-inducible protein 2;tetratricopeptide repeat protein 21A protein-coding ENSG00000168026 30761 10254 611430 VALIDATED 1603175 TTC23L tetratricopeptide repeat domain 23-like 5 5 5 p13.2 34721072 34781799 + 34875026 34935324 + 34839269 34899567 + 14702039;12477932;17207965;20379614 153657 D6RB54;Q6PF05 ABBA01039264;ABBA01039265;AC026801;AK058168;AK097766;AK293829;AMYH01015022;AY498865;BC032871;BC057775;BX088767;CH471119;JN799997;NM_144725 AAH57775;AAR92152;ADQ32973;AER93257;BAB71699;BAG57232;EAW55900;EAW55901;NP_653326;Q6PF05 Hs.435742 1674053 WI-11211 FLJ25439;MC25-1 OTTHUMP00000221044;OTTHUMP00000221046;tetratricopeptide repeat protein 23-like protein-coding ENSG00000205838 26355 08691 VALIDATED 1601741 TTC23 tetratricopeptide repeat domain 23 15 15 15 q26.3 76095478 76208785 - 97494051 97607338 - 99676528 99789815 - 6480464 16344560;16341674;15342556;14702039;12477932;8125298;20200953;21555518;21832049 64927 H0YET0;H0YKN9;H0YM10;H0YMN1;H0YN45;H0YNH7;H0YNV8;H7BZG4;Q5W5X9 ABBA01020556;ABBA01020557;AC022819;AC036108;AF411456;AK022634;AK023001;AK023230;AK222580;AK291690;AMYH01006966;BC015728;BC034816;BM755170;BP288479;CH471101;DA644193;DA681018;DA743180;DA992241;DB088037;DB178976;DB238664;NM_001040655;NM_001040656;NM_001040657;NM_001040658;NM_001040659;NM_001040660;NM_022905 AAH15728;AAQ03215;BAB14144;BAB14480;BAD96300;BAF84379;BAG51147;EAX02234;EAX02235;EAX02236;EAX02237;EAX02238;EAX02239;NP_001035745;NP_001035746;NP_001035747;NP_001035748;NP_001035749;NP_001035750;NP_075056;Q5W5X9 Hs.513195;Hs.621260 1646892;1690272;1707546;1766639;1768817;1777689 D7S1645;RH1644;RH91821;SHGC-149934;SHGC-33473;SHGC-84584 FLJ12572;FLJ12939;HCC-8 OTTHUMP00000190851;OTTHUMP00000190852;OTTHUMP00000190853;OTTHUMP00000233171;TPR repeat protein 23;cervical cancer proto-oncogene 8 protein;proto-oncogene 8;tetratricopeptide repeat protein 23 protein-coding ENSG00000103852 25730 07777 VALIDATED 1353382 TTC19 tetratricopeptide repeat domain 19 This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012] 17 17 17 p12 15805789 15835101 + 15843507 15872821 + 15902694 15932723 + 6480464;7240710 12477932;15231747;16730941;16713569;15489334;14702039;20208530;20877624;21278747;21900206;21890473;21906983 54902 K7EJA1;K7EKH7;K7EKS0;K7ELX2;K7ERR1;Q6DKK2 ABBA01035665;AC002553;AC006251;AK000350;AK025958;AK055780;AK056878;AK094819;AK297783;AL832412;AMYH01008146;AW083291;BC003058;BC011698;BC073796;BC105128;BC112107;CA417932;CH471222;NG_029806;NM_001271420;NM_017775 AAH11698;AAH73796;AAI05129;AAI12108;BAA91103;BAB15296;BAG51574;BAG51820;BAG52935;BAG60127;EAX04490;EAX04491;NP_001258349;NP_060245;Q6DKK2 Hs.462316 1678139;1678229;1736630;2123133;2178495;5037552 D17S1473E;D8S2279;RH65831;RH99043;STS-W67727;WI-21018 2010204O13Rik;FLJ20343;MC3DN2;MGC138312;MGC19520 OTTHUMP00000065570;OTTHUMP00000065571;OTTHUMP00000065572;TPR repeat protein 19;tetratricopeptide repeat protein 19;tetratricopeptide repeat protein 19, mitochondrial APPROVED protein-coding ENSG00000011295 26006 07899 124000;613814;615157 REVIEWED 1606214 TTC25 tetratricopeptide repeat domain 25 17 17 17 q21.2 36737424 36772368 + 37340414 37371195 + 40086888 40117669 + 6480464 17353931;11256614;16381901;15489336;14702039;12477932;11230166;11076863;21139048 83538 Q96NG3 ABBA01006442;ABBA01006443;ABBA01006444;ABBA01006445;AC091172;AC125257;AK055498;AL136760;AMYH01008389;BC025390;BC067297;CF593846;CH471152;NM_031421 AAH25390;AAH67297;BAB70936;CAB66694;CAL38571;EAW60782;EAW60783;EAW60784;NP_113609;Q96NG3 Hs.201134 2146044 AFM291WH5 DKFZp434H0115 TPR repeat protein 25;tetratricopeptide repeat protein 25 protein-coding 25280 10888 VALIDATED 6480854 TTC3-AS1 TTC3 antisense RNA 1 100874006 AP001432;BF979681 Hs.570411 APPROVED miscrna 40595 1605330 TTC26 tetratricopeptide repeat domain 26 7 7 7 q34 133556647 133612709 + 138469064 138525086 + 138818490 138874550 + 6480464 15342556;14702039;12477932;19913121;20628086;21139048;21906983 79989 A0AVF1;B7Z2T3;B7Z6R6;F8WEZ4;Q96CU4 AACC02000025;ABBA01001184;AC009220;AC018644;AI375270;AK022633;AK293444;AK295092;AK299132;AK300807;AL137393;AMYH01017975;BC013912;BC034466;BC126331;BC130339;BC144151;BP315162;CH236950;CH471070;NM_001144920;NM_001144923;NM_024926 A0AVF1;AAH13912;AAI26332;AAI30340;ADZ15710;BAB14143;BAH11506;BAH11969;BAH12956;BAH13352;CAB70721;EAL24039;EAW83906;EAW83907;EAW83908;NP_001138392;NP_001138395;NP_079202 Hs.644553 1672438;1688358;1786476;1949478;2117516;2145733;5014051;5021872;5095058 D7S1630;D7S1969;D8S2278;MSL3L1;REN45587;RH69399;RH93298;SHGC-64771;sY3084 DYF13;FLJ12571;MGC163211;dyf-13 OTTHUMP00000212203;OTTHUMP00000212204;OTTHUMP00000212206;OTTHUMP00000212207;TPR repeat protein 26;tetratricopeptide repeat domain 26;tetratricopeptide repeat protein 26 protein-coding ENSG00000105948 21882 07776 VALIDATED 1604350 TTC27 tetratricopeptide repeat domain 27 2 2 2 p22.3 32697911 32890934 + 32706633 32899622 + 32853087 33046118 + 6480464 17353931;15761153;14702039;12477932;8125298;20379614;22939629;17314511;19850743;20360068;21139048;21890473;21906983;22745009 55622 B4DRC7;C9JVS4;F8WCH1;H7C178;H7C329;H7C3A3;Q6P3X3 ABBA01074895;ABBA01074896;ABBA01074897;ABBA01074898;ABBA01074899;ABBA01074900;AK000279;AK000665;AK027570;AK225295;AK299196;AL121656;AL133246;AMYH01010235;AMYH01010236;BC001248;BC063791;BI546117;CH471053;NM_001193509;NM_017735 AAH01248;AAH63791;BAA91048;BAA91315;BAB55206;BAG61239;EAX00441;EAX00442;NP_001180438;NP_060205;Q6P3X3 Hs.468125 1747605;2151404;2167536 G65474;RH12456;SHGC-13207 FLJ20272 OTTHUMP00000201272;TPR repeat protein 27;tetratricopeptide repeat protein 27 protein-coding ENSG00000018699 25986 08618 VALIDATED 4107238 TTC28-AS1 TTC28 antisense RNA 1 22 22 22 q12.1 12115329 12198626 + 26718922 26723411 + 28315364 28398667 + 6480464 11258795;12477932;15461802;16344560;8889548;21552555 284900 AB051435;ABBA01055217;ABBA01055218;ABBA01055219;AL031591;AL033538;AL832597;AMYH01012685;BC016779;BC028176;BC060374;BQ018666;BU740789;CH471095;CT841515;DA934139;DB254752;NR_026962;NR_026963 BAB33318;CAJ86445;EAW59747 Hs.602319 1683593;1747557;1747559;1747561;1747563;1747565;1748385;1748387;2147051;2152301;2162092 D22S1262;D22S986E;G65443;G65444;G65445;G65446;G65447;G65733;G65734;RH1698;RH69365 KIAA1648;TTC28-AS;TTC28AS;dJ353E16.2 APPROVED miscrna ENSG00000235954 29336 VALIDATED 1605320 TTC29 tetratricopeptide repeat domain 29 4 4 4 q31.22 144948722 145187595 - 147847629 148086484 - 147628179 147867034 - 6480464 16344560;14702039;12477932;11329013;8125298;20379614 83894 D6R945;D6RJF6;E7EQ14;E7EQZ6;G5E9Z5;Q8NA56;Q8TC83 ABBA01070051;ABBA01070052;AC092435;AC093887;AC097497;AC106050;AF345910;AK093145;AK225725;AK301807;AK314066;AMYH01014601;BC024193;BG216688;CH471056;DB034049;EF432564;NM_031956 AAH24193;AAK29064;ABO31099;BAC04072;BAG63257;EAX05022;EAX05023;EAX05024;NP_114162;Q8NA56 Hs.378893 1663335;1672290;1695118;1725267;1851109;2133949;2153062;2158375;2174840;2175296 D4S1066;D4S1245;D4S2825;D4S498;G33943;G34315;G48198;RH123238;SHGC-50684;SHGC4-1603 NYD-SP14;TBPP2A OTTHUMP00000221147;OTTHUMP00000221148;TPR repeat protein 29;testis development protein NYD-SP14;tetratricopeptide repeat protein 29 protein-coding ENSG00000137473 29936 14866 VALIDATED 1601773 TTC28 tetratricopeptide repeat domain 28 22 22 22 q12.1 12173962 12875814 - 26704002 27405853 - 28374002 29075853 - 6480464 15489334;14702039;12477932;12168954;10591208;10470851;19615732;20379614;21552555;23314748;21139048;21890473;12421765;23036704 23331 B0QYP4;B0QYP5;Q9UPV8 AB028966;AB665284;ABBA01055219;ABBA01055220;ABBA01055221;ABBA01055222;ABBA01055223;ABBA01055224;ABBA01055225;ABBA01055226;ABBA01055227;ABBA01055228;ABBA01055229;ABBA01055230;ABBA01055231;ABBA01055232;ABBA01055233;ABBA01055234;ABBA01055235;ABBA01055236;AK055553;AK092338;AL008722;AL008724;AL023281;AL033538;AL035397;AL035453;AL050313;AL080174;AL080241;AL118497;AL121825;AL137328;AMYH01012685;AMYH01012686;AMYH01012687;AMYH01012688;AMYH01012689;AMYH01012690;BC016465;NM_001145418 AAH16465;BAA82995;BAM66822;CAB45760;CAB62963;CAB62964;CAB70697;NP_001138890;Q96AY4 Hs.387856 1340346;1648068;1683593;1713627;1713771;1728561;1731369;1747557;1747559;1747561;1747563;1747565;1747567;1747569;1748385;1748387;1767258;1777135;1781080;1781082;1847522;1857046;2116182;2116311;2141634;2147051;2152301;2155795;2158045;2162092;2165141;2171295;2174690;2175413;2178992;2182751;2184933;2187363;7184802 AL031086;D18S21;D22S1262;D22S29;D22S298;D22S566;D22S567;D22S570;D22S571;D22S576;D22S594;D22S689;D22S693;D22S986E;G18168;G63570;G65443;G65444;G65445;G65446;G65447;G65448;G65449;G65733;G65734;RH120694;RH120772;RH1698;RH44930;RH47125;RH69365;SHGC-32911;SHGC-56533;SHGC-58212;SHGC-7715;WI-13513;stbK732E4.0.179;stbK754D9T7 KIAA1043;TPRBK OTTHUMP00000198926;TPR repeat protein 28;TPR repeat-containing big gene cloned at Keio;TPR-containing big gene cloned at Keio;tetratricopeptide repeat protein 28 protein-coding ENSG00000100154 29179 10020 615098 VALIDATED 1603937 TTC30A tetratricopeptide repeat domain 30A 2 2 2 q31.2 172081886 172086554 - 178187272 178191940 - 178479026 178483694 - 6480464 14702039;12477932;8889548 92104 Q86WT1 ABBA01062238;AC073834;AK057530;AK125104;AK292395;AL049329;AMYH01011299;BC017695;BC042848;BC048006;BM684657;BQ015522;CH471058;NM_152275 AAH42848;AAH48006;ADZ15563;BAF85084;CAB43676;EAX11053;EAX11054;NP_689488;Q86WT1 Hs.128384 1739281 D2S1939E FLJ13946;FLJ77601 OTTHUMP00000163351;TPR repeat protein 30A;tetratricopeptide repeat protein 30A protein-coding ENSG00000197557 25853 08590 VALIDATED 1603563 TTC30B tetratricopeptide repeat domain 30B 2 2 2 q31.2 172017725 172020369 - 178123126 178125770 - 178414880 178417524 - 6480464 16344560;14702039;12477932 150737 Q8N4P2 ABBA01062238;AC073834;AI498353;AK055552;AK296828;AMYH01011298;AW007843;BC033795;BX647620;DA260391;DA557876;NM_152517 AAH33795;ADZ15932;BAB70953;BAG59398;CAH56200;NP_689730;Q8N4P2 Hs.447659 1856987 RH12009 FLJ30990;IFT70;fleer OTTHUMP00000205215;TPR repeat protein 30B;tetratricopeptide repeat protein 30B protein-coding ENSG00000196659 26425 08706 VALIDATED 2293894 TTC34 tetratricopeptide repeat domain 34 1 1 1 p36.32 1898499 1923916 - 2689996 2707252 - 2572807 2706230 - 6480464 16710414;21145461;21628590 100287898 A8MYJ7;B7ZC41;J3KQ58 ABBA01016105;ABBA01073676;AL592464;AL831784;AMYH01000179;AMYH01000180;AMYH01000181;AMYH01000182;DY655627;NM_001242672 A8MYJ7;NP_001229601 Hs.632363 OTTHUMP00000202542;TPR repeat protein 34;TPR repeat-containing protein ENSP00000383873;tetratricopeptide repeat domain 34;tetratricopeptide repeat protein 34 protein-coding ENSG00000215912 34297 PROVISIONAL 1318550 TTC3 tetratricopeptide repeat domain 3 21 21 q22.2 37367441 37497278 + 38445571 38575408 + 1580863;6480464 19285159;17488780;14702039;12477932;10830953;10781955;9503011;9254009;8947847;8724848;15231748;20059950;20379614;20463881;18029348;21139048;21890473;21900206 7267 A8MT23;B4DSZ9;E9PCE7;E9PMP8;E9PMS7;H7BZ57;H7C097;H7C3Z1;P78477 ABBA01057411;ABBA01057412;ABBA01057413;AJ001866;AK125473;AK291992;AK297921;AK299991;AMYH01012231;AP001429;AP001432;AY523634;BC026260;BC047867;BC063033;BC092466;BC137345;BI915053;BQ893819;CA420000;CH471079;CR936616;D83077;D83327;D84294;D84295;D84296;NM_001001894;NM_003316 AAH63033;AAH92466;AAI37346;AAT28185;BAA11769;BAA12301;BAA12302;BAA12303;BAA23666;BAF84681;BAG60239;BAG61811;CAA05057;CAI56759;EAX09716;EAX09717;EAX09718;EAX09719;EAX09720;EAX09721;EAX09722;EAX09723;NP_001001894;NP_003307;P53804 Hs.368214 1335367;1337902;1342361;1654719;1658561;1661069;1662109;1685187;1689618;1694868;1724061;1735044;1759819;1773579;2115365;2129924;2145252;2148406;2182578;5014051;5037552;7186492 D21S1735E;D21S1829;D21S1900;D21S1919;D21S2036;D21S267;D8S2278;D8S2279;G34679;G44308;RH119042;RH77745;RH79580;RH93278;SHGC-170060;SHGC-31018;SHGC-51950;SHGC-51951;SHGC-51952;SHGC-9923;WI-19945 DCRR1;DKFZp686M0150;RNF105;TPRDIII E3 ubiquitin-protein ligase TTC3;OTTHUMP00000109081;OTTHUMP00000109082;OTTHUMP00000109084;OTTHUMP00000109089;RING finger protein 105;TPR repeat protein 3;TPR repeat protein D;tetratricopeptide repeat protein 3 protein-coding ENSG00000182670 12393 03773 602259 VALIDATED 1605049 TTC31 tetratricopeptide repeat domain 31 2 2 2 p13.1 74541365 74552855 + 74563724 74575191 + 74710200 74721691 + 6480464 15489334;14702039;12477932;16751776;8125298;21790010 64427 B4DZV1;D6W5I8;G5E9H3;H7BZ54;Q49AM3 ABBA01075602;AC005041;AK022850;AK026819;AK090520;AK223355;AK225626;AK301585;AK303105;AK303245;AMYH01010454;BC036017;BC045536;BC047084;BC060805;BC096709;BC098114;BC098365;BC099729;BX648131;CH471053;NM_022492;NR_027749 AAH36017;AAH45536;AAH96709;AAH98365;BAB14272;BAD97075;BAG52176;BAG63076;BAG64213;BAG64329;EAW99638;EAW99639;EAW99640;EAW99641;EAW99642;EAW99643;EAW99644;EAW99645;EAW99646;EAW99647;EAW99648;NP_071937;Q49AM3 Hs.557709 2117530 WI-11593 FLJ12788;FLJ33201;MGC120200 OTTHUMP00000202636;OTTHUMP00000202639;TPR repeat protein 31;tetratricopeptide repeat protein 31 protein-coding ENSG00000115282 25759 07797 VALIDATED 2293598 TTC36 tetratricopeptide repeat domain 36 11 11 11 q23.3 115559004 115562534 + 117903420 117906950 + 118398210 118401740 + 6480464 18587674;12477932;23314748 143941 A6NLP5;B7ZW72;E9PNF0 ABBA01039706;AMYH01004071;AP000941;AX400021;BC146916;BC146921;BC171906;BC171913;CH471065;EU489483;NM_001080441 A6NLP5;AAI46917;AAI46922;AAI71906;AAI71913;ACA62794;CAD33465;EAW67387;NP_001073910 Hs.653449 1672870;2129960 RH44274;WI-22011 HBP21 HSP70 binding protein 21;HSP70-binding protein 21;OTTHUMP00000232655;TPR repeat protein 36;tetratricopeptide repeat protein 36 protein-coding 33708 PROVISIONAL 1314461 TTC37 tetratricopeptide repeat domain 37 This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010] 5 5 5 q15 90678012 90769146 - 94825868 94916438 - 94799599 94890709 - 737633;6480464 12477932 21145461;15489334;15231748;9205841;20176027;16024656;22939629;22586326;21120949;21139048;21890473;21906983 9652 D6RCE2;D6RDA0;H0Y915;H0Y964;Q6PGP7 AB002370;ABBA01069251;ABBA01069252;AC090071;AK307531;AMYH01015490;BC009767;BC015163;BC030966;BC056893;CH471084;NG_023414;NM_014639 AAH15163;AAH56893;BAA20827;EAW96037;EAW96038;NP_055454;Q6PGP7 Hs.482868 1650772;1678913;1713379;1793022;2176014;5123493;5491804 D5S1943;KIAA0372;PMC186649P1;RH119544;RH35848;SHGC-56463;WI-11864 KIAA0372;MGC32587;Ski3 OTTHUMP00000149977;SKI3 homolog;TPR repeat protein 37;tetratricopeptide repeat protein 37;thespin;tricho-hepatic-enteric syndrome protein APPROVED protein-coding ENSG00000198677 23639 11079 222470;614589 REVIEWED 1322418 TTC39A tetratricopeptide repeat domain 39A 1 1 1 p32.3 50039459 50097314 - 51525370 51560526 - 51752930 51810785 - 6480464 12477932;9461476;9455484 22996 D3DQ30;E9PAZ4;E9PHX9;E9PQ33;E9PQX3;F8W961;G3XAF8;Q5SRH8 AB007921;ABBA01074804;ABBA01074805;ABBA01074806;ABBA01074807;AF007170;AK000220;AK298019;AK301587;AK311430;AL162430;AL671986;AMYH01000613;AMYH01000614;BC004399;BC028374;CH471059;CX788693;DB460455;DC381029;NM_001080494;NM_001144832 AAC39582;AAH04399;AAH28374;AAI60047;BAA32297;BAH12705;BAH13518;EAX06826;NP_001073963;NP_001138304;Q5SRH9 Hs.112949 1701004;1724465;2131673;2160012 AL009544;AL009660;RH104129;RH122397 C1orf34;DEME-6;KIAA0452 OTTHUMP00000009899;OTTHUMP00000009901;OTTHUMP00000009902;OTTHUMP00000009903;OTTHUMP00000231716;TPR repeat protein 39A;differentially expressed in MCF7 with estradiol protein 6;tetratricopeptide repeat protein 39A protein-coding ENSG00000085831 18657 VALIDATED 6483982 TTC39CP1 tetratricopeptide repeat domain 39C pseudogene 1 4 q26 117115187 117115905 - 9847074 100288825 ABBA01063858;AC024248;AC027613;AC073338;AMYH01014477;NG_022030 1341726;1679063;1708104;2142555 AFM266vf9;D4S1573;SHGC-50155;SHGC-81450 pseudo 44019 INFERRED 4139976 TTC39DP tetratricopeptide repeat domain 39D, pseudogene 2 2 2 p22.1 38831776 38833391 + 38844078 38845876 + 38990727 38992342 + 6480464 646640 ABBA01075018;AC018693;AC074366;AC092833;AMYH01010269;NG_021561 pseudo 35451 INFERRED 2291791 TTC3P1 tetratricopeptide repeat domain 3 pseudogene 1 X X X q13.3 75243698 75246239 - 74875517 74883558 - 74960373 74962914 - 286495 ABBA01059415;AK304575;AL391495;AMYH01022618;AY672106;NR_030737 BAH14219 Hs.567832 1714311;1759819 RH119935;SHGC-170060 RNF105L;TTC3L APPROVED pseudo 23318 VALIDATED 1602885 TTC38 tetratricopeptide repeat domain 38 22 22 22 q13 30571246 30597288 + 45042525 45068569 + 46663861 46689905 + 6480464 12477932;16344560;17207965;21906983;21900206 55020 A9UJP8;E7ES35;F8WBU8;H7C089;H7C2L7;Q5R3I4 ABBA01010444;ABBA01010445;AI243497;AK000706;AK300606;AMYH01012858;BC018918;CH471138;DA762669;NM_017931;Z93024 AAH18918;ADQ32377;BAA91331;BAG62302;EAW73412;EAW73413;EAW73414;EAW73415;NP_060401;Q5R3I4 Hs.435832 1340759;1722663;2135713;2171597 A004X26;D22S1149;G60415;RH48511 FLJ20699;LL22NC03-5H6.5 OTTHUMP00000197572;TPR repeat protein 38;tetratricopeptide repeat protein 38 protein-coding ENSG00000075234 26082 07943 VALIDATED 1349134 TTC4P1 tetratricopeptide repeat domain 4 pseudogene 1 7 7 7 p13 46138207 46139272 - 46005745 46006902 - 46039312 46040377 - 10828607;17903293 222052 AACC02000092;ABBA01058256;AC073115;AMYH01017224;CH236958;NG_021385 TTC4P APPROVED pseudo 12395 INFERRED 1605580 TTC32 tetratricopeptide repeat domain 32 2 2 2 p24.1 19958875 19964108 - 19959995 19965228 - 20096514 20101747 - 6480464 15489334;12477932;22751097;17207965;21906983 130502 B5MCJ1;C9JV54;Q5I0X7 ABBA01018487;AC013400;AMYH01010148;AX118999;BC057850;BC070381;CH471053;NM_001008237 AAH57850;ADQ31962;CAC38573;EAX00842;EAX00843;NP_001008238;Q5I0X7 Hs.591547 OTTHUMP00000200513;TPR repeat protein 32;tetratricopeptide repeat protein 32 protein-coding ENSG00000183891 32954 17296 PROVISIONAL 1606815 TTC33 tetratricopeptide repeat domain 33 5 5 5 p13.1 40600249 40644657 - 40747435 40791829 - 40711678 40756072 - 6480464 16344560;12477932;8889548;20360068;21139048;21906983;19322201 23548 Q6PID6;Q9H3A1 ABBA01024221;ABBA01024222;ABBA01024223;AC008810;AC093264;AF023244;AF130073;AI174764;AK303119;AK307131;AK312560;AMYH01015049;BC015701;BC036536;BE869916;BF509085;BM543635;BM689740;BQ922097;CH471119;CR738110;DA518274;DA652008;NM_012382 AAD09341;AAG35500;AAH15701;AAH36536;ABM83290;ABM86499;BAG35457;BAG64225;EAW55998;EAW55999;NP_036514;Q6PID6 Hs.348915;Hs.621357 1660277;2133472;5095028;7185126 D5S1543;STS-N63422;TTC33 OSRF OTTHUMP00000161794;TPR repeat protein 33;osmosis responsive factor;osmosis-responsive factor;tetratricopeptide repeat protein 33 protein-coding 29959 17807 VALIDATED 1345290 TTC39C tetratricopeptide repeat domain 39C 18 18 18 q11.2 18389024 18531881 + 19826735 19966989 + 21572737 21715574 + 737633;6480464 12477932 16177791;15489334;14702039;22939629 125488 G3V1P2;J3QKX7;J3QLL8;Q8N584 ABBA01022619;ABBA01022620;ABBA01022621;ABBA01022622;AC010754;AC090772;AK074875;AK091080;AK296442;AMYH01008889;AMYH01008890;AMYH01008891;AW003831;BC016833;BC032684;BC121034;BC121035;BM069557;CH471088;NM_001135993;NM_001243425;NM_153211 AAH32684;AAI21035;AAI21036;BAC03578;BAH12356;EAX01169;EAX01170;EAX01171;NP_001129465;NP_001230354;NP_694943;Q8N584 Hs.128576;Hs.732771 1651621;1651623;1656990;1664493;1691378;1697668;1722193;1725147;2137480;2149371;2183863;5014051;5015621;5020948;5022200;5022578;5037552 A004U13;A005N33;D11S3732;D1S1423;D8S2278;D8S2279;G09806;G20357;G35510;G42068;G60150;L18426;RH102349;RH118876;RH68668;STS-AA016083;STS-T03922 C18orf17;FLJ33761;FLJ90394;HsT2697 TPR repeat protein 39C;tetratricopeptide repeat protein 39C protein-coding ENSG00000168234 26595 08745 VALIDATED 1314048 TTC39B tetratricopeptide repeat domain 39B 9 9 9 p22.3 15104514 15241039 - 15161561 15297244 - 15170842 15307358 - 6480464 20889312;19060906;14702039;12477932;20571754;20686565;20705733;17213182;20379614;20972250;20864672;19850743;22925353 158219 B4DVQ6;H0YAJ6;Q5VTQ0 ABBA01065280;ABBA01065281;ABBA01065282;ABBA01065283;ABBA01065284;ABBA01065285;AI473911;AK091187;AK093459;AK298581;AK298998;AK301185;AK301427;AK310271;AK310482;AL591393;AMYH01019243;AMYH01019244;BC038592;BC042417;BC070139;BC142985;BX105862;CH471071;DT217817;NM_001168339;NM_001168340;NM_001168341;NM_001168342;NM_152574 AAH38592;AAH42417;AAI42986;BAC03603;BAG60772;BAG61086;BAG62768;BAG62955;EAW58683;EAW58684;EAW58685;NP_001161811;NP_001161812;NP_001161813;NP_001161814;NP_689787;Q5VTQ0 Hs.563630 1659118;1718867;1757217;1787142;2114052;2133262;2178168 AB071091;GDB:1318581;RH123138;RH35968;SHGC-144635;SHGC-155663;SHGC-33781 C9orf52;FLJ33868 OTTHUMP00000021065;OTTHUMP00000223199;OTTHUMP00000223200;OTTHUMP00000223201;TPR repeat protein 39B;tetratricopeptide repeat protein 39B protein-coding ENSG00000155158 23704 10801 613574 VALIDATED 1350822 TTC40 tetratricopeptide repeat domain 40 10 10 10 q26.3 128844843 128896279 + 134471886 134521226 - 134621896 134756089 - 737633;6480464 12477932 15489334;15164054;14702039;11230166;8889548;16385451;11181995;15146197;17207965 54777 B1AP42;H0Y845;J3QTL0;Q9NTQ5 AA813184;ABBA01006195;ABBA01006196;ABBA01006197;ABBA01006198;AK098820;AK128150;AL122111;AL392043;AL691429;AMYH01003217;AMYH01003218;AMYH01003219;AMYH01003220;BC034223;BC044661;BC146900;BC146908;BM726635;BX376477;CA310952;CH471211;CN285826;DN930461;DR001134;DV080197;DV080198;DV080461;DV080489;DV080629;DV080663;DV080697;DY654537;EL734348;NM_001200049 AAH34223;AAH44661;AAI46901;AAI46909;BAC05424;CAB59272;EAW61309;EAW61310;NP_001186978;Q8IYW2 Hs.298038;Hs.719815 C10orf123;C10orf124;C10orf92;C10orf93;DKFZp434A1721;FLJ25954;FLJ46273;MGC182003;MGC182011;RP11-288G11.4;RP13-137A17.3;bA288G11.4;bA288G11.5;bB137A17.2;bB137A17.3 TPR repeat-containing protein C10orf93;chromosome 10 open reading frame 92;hypothetical protein LOC54777;tetratricopeptide repeat protein 40;uncharacterized protein C10orf92 APPROVED protein-coding ENSG00000171811 25247 12596 PROVISIONAL 1323287 TTC6 tetratricopeptide repeat domain 6 14 14 14 q21.1 17936772 18176147 + 37334265 37381247 + 38072303 38165965 + 6480464 15489334;12477932;20379614;11181995;19692168 319089 G3V2C3;G3V3A5;G3V435;G5E9W5;H0YJ01;Q3SY88;Q86TZ1 ABBA01061532;ABBA01061533;ABBA01061534;AL121790;AL136296;AL163151;AMYH01005680;AMYH01005681;BC014342;BC038110;BC103914;BC103915;BC103916;BX161415;CH471078;XM_003846351;XM_003846574;XM_003960548 AAH14342;AAH38110;AAI03915;AAI03916;AAI03917;CAD61890;EAW65837;EAW65838;EAW65839;EAW65840;EAW65841;EAW65842;EAW65843;Q86TZ1;XP_003846399;XP_003846622;XP_003960597 Hs.659936 C14orf25;MGC119358;MGC119360;MGC119361;NCRNA00291 TPR repeat protein 6;tetratricopeptide repeat protein 6 protein-coding 19739 MODEL 1322658 TTC5 tetratricopeptide repeat domain 5 14 14 14 q11.2 618437 635301 - 19827144 19843976 - 20757290 20774153 - 1580863;6480464;6484113 16344560;15489334;21145461;14702039;12477932;11511361;17207965;21147850;21139048;19322201 91875 G3V3I6;H0Y6R6;H9KV81;Q86T04;Q8N0Z6 ABBA01061222;AK074553;AL356019;AMYH01005582;BC008647;BC030822;BC053538;BM998414;BX248066;BX640732;BX648584;CH471078;CQ783482;DB051711;NM_138376 AAH08647;AAH30822;AAH53538;ACE87639;ADQ32206;BAC11056;CAD62359;CAE45848;CAF86668;EAW66480;EAW66481;EAW66482;NP_612385;Q8N0Z6 Hs.98553 1779670;1854806;2107723 SHGC-153640;TTC5__5156;WI-18343 Strap OTTHUMP00000163990;OTTHUMP00000163991;TPR repeat protein 5;stress-responsive activator of p300;tetratricopeptide repeat protein 5 protein-coding 19274 15584 VALIDATED 1314238 TTC7B tetratricopeptide repeat domain 7B 14 14 14 q32.11 71054409 71331315 - 90076685 90352514 - 91006932 91282761 - 6480464 15489334;12508121;12477932;21145461;21890473;21993531;22453632 145567 G3V3E4;G3V3H1;H0YIZ4;H0YJP9;H0YJS2;H0YK02;Q6PIF1;Q86TV6 ABBA01030497;ABBA01030498;AK126571;AL096869;AL122020;AL139193;AL832848;AMYH01005946;AMYH01005947;BC035865;BC048270;BG489583;BQ426031;BX247966;BX248275;CB988671;CH471061;NM_001010854 AAH35865;AAH48270;AAI48530;AAI53123;BAG54346;CAD62305;CAD62603;CAI46128;EAW81433;EAW81434;EAW81435;EAW81436;EAW81437;EAW81438;NP_001010854;Q86TV6 Hs.655697 1336627;1649821;1651543;1662931;1678865;1698974;1704546;1731649;1753627;1779360;1848517;2140596;2150052;2164600;2180301;5092768;7185478 1088;D14S100E;D14S1242;D14S1261;D14S148;D14S291;FB20F6;G32318;G35691;G35974;RH103056;RH47639;RH66997;SHGC-107542;SHGC-153355;SHGC-83079 TTC7L1;c14_5685 OTTHUMP00000244945;TPR repeat protein 7-like-1;TPR repeat protein 7B;tetratricopeptide repeat domain 7 like 1;tetratricopeptide repeat protein 7-like-1;tetratricopeptide repeat protein 7B protein-coding ENSG00000165914 19858 18503 PROVISIONAL 1350554 TTD trichothiodystrophy 8213812 7269 12396 1314700 TTC7A tetratricopeptide repeat domain 7A The tetratricopeptide repeat (TPR) domain is defined by a degenerate consensus sequence of 34 amino acids. TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins (White et al., 2005 [PubMed 15718100]).[supplied by OMIM, Mar 2008] 2 2 2 p21 47007266 47142129 + 47021817 47156779 + 47168313 47303275 + 1580863;6480464;7240710 17081983;15718100;15489334;14702039;12477932;12168954;10574461;20339536;19898481;20932654;21890473;21906983 57217 F5H4E1;G5E9G4;H0Y3V7;H7C055;H7C1P2;Q2T9J9;Q9ULT0 AA504156;AB032966;ABBA01075147;ABBA01075148;ABBA01075149;ABBA01075150;AC073283;AC093732;AK056464;AL117512;AL834383;AMYH01010320;AMYH01010321;BC001978;BC027457;BC035708;BC065554;BC082965;BC111487;BC114365;CH471053;NM_020458 AAH01978;AAH27457;AAH65554;AAI11488;AAI14366;BAA86454;BAG51719;CAD39046;EAX00226;EAX00227;EAX00228;EAX00229;NP_065191;Q9ULT0 Hs.370603;Hs.736871 1340580;1677484;1678467;1696146;1697240;1705030;2180914;5095203 Clen32;D2S2227;RH102114;RH15945;RH69939;RH93668;SHGC-78032;SHGC-79084 MGC131720;MGC134830;MINAT;TTC7 OTTHUMP00000203176;OTTHUMP00000203190;OTTHUMP00000203192;OTTHUMP00000203193;TPR repeat protein 7A;tetratricopeptide repeat protein 7A APPROVED protein-coding ENSG00000068724 19750 18239 243150;609332 VALIDATED 1318353 TTC4 tetratricopeptide repeat domain 4 This gene encodes a protein that contains tetratricopeptide (TPR) repeats. The 34-amino acid tetratricopeptide repeat motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity.[provided by RefSeq, Jun 2011] 1 1 1 p32.3 53469087 53495920 + 54954117 54980569 + 55181495 55208330 + 1580863;6480464 16344560;18320024;15489334;14702039;12477932;10828607;9933562;8125298;17353931;14623081;22939629;22863883;19875381;21360678;21963094;23383273;21139048;21890473;21906983;22505724 7268 O95801;Q5TA95 ABBA01074708;ABBA01074709;AF063602;AF073887;AK025524;AK090964;AK123924;AK222562;AK292426;AL139244;AMYH01000640;BC001276;BT006817;CH471059;DB362353;NG_029058;NM_004623 AAD19853;AAG43161;AAH01276;AAP35463;BAC85726;BAD96282;BAF85115;EAX06670;EAX06671;EAX06672;EAX06673;EAX06674;NP_004614;O95801 Hs.412482;Hs.729029 2110001;2137088;2159163 Cda16a09;D7S2334;TTC4_8695 DKFZp781B0622;FLJ41930;MGC5097 OTTHUMP00000011556;OTTHUMP00000011557;TPR repeat protein 4;tetratricopeptide repeat protein 4 APPROVED protein-coding ENSG00000243725 12394 08417 606753 REVIEWED 1318967 TTC9 tetratricopeptide repeat domain 9 This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009] 14 14 14 q24.2 51172455 51206028 + 70178257 70211830 + 71108504 71142077 + 1580863;6480464 18699990;16678794;15489334;12477932;9039502 23508 Q92623 ABBA01030812;AC004816;AL357153;AMYH01005832;BC047950;BX407741;CH471061;D86980;NG_012648;NM_015351 AAH47950;AAI60145;BAA13216;EAW81043;EAW81044;NP_056166;Q92623 Hs.79170 1662322;1665526;1665528;1669676;1680511;1740141;2115692;2162808;2164130;2164132;2170920;2178612 A005T47;A006H41;D14S906;G20494;G20823;G38116;G38244;G38256;RH25433;SHGC-3622;STS-Z40406;WI-20573 KIAA0227;TTC9A TPR repeat protein 9A;tetratricopeptide repeat protein 9A APPROVED protein-coding ENSG00000133985 20267 610488 REVIEWED 1317152 TTC8 tetratricopeptide repeat domain 8 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 14 14 14 q31.3 69339325 69392681 + 88360731 88414088 + 89290978 89344335 + 1624198;1580863;6480464;7240710 14520415 17574030;19402160;19077438;15489334;14702039;12477932;20451172;20801516;20301537;16327777;21963094;21890473;21906983;20301590;23251661 123016 B3KSL8;G3V2W6;G3V2Z9;G3V324;H0YJQ3;H0YJX0;Q86U25;Q96DG8 ABBA01030523;ABBA01030524;AF086168;AK093891;AK124675;AK296077;AK315772;AL121768;AL133238;AL833901;AMYH01005937;AMYH01005938;AY366523;AY366524;AY373972;BC001563;BC026351;BC095433;BG330023;BX161472;BX247959;BX248071;BX248248;CH471061;NG_008126;NM_144596;NM_198309;NM_198310 AAH01563;AAH26351;AAH95433;AAR02192;AAR02193;AAR19043;BAG52780;BAG54067;BAG58833;CAD38757;CAD61928;CAD62299;CAD62360;CAD62576;EAW81395;EAW81396;EAW81397;EAW81398;EAW81399;EAW81400;EAW81401;EAW81402;NP_653197;NP_938051;NP_938052;Q8TAM2 Hs.303055 1711364;1779157;1789230;2134048 G65613;SHGC-30768;SHGC-80923;WI-22228 BBS8;RP51 Bardet-Biedl syndrome type 8;OTTHUMP00000244652;OTTHUMP00000244653;OTTHUMP00000244654;OTTHUMP00000244656;OTTHUMP00000244659;TPR repeat protein 8;bardet-Biedl syndrome 8 protein;tetratricopeptide repeat protein 8 APPROVED protein-coding ENSG00000165533 20087 209900;608132;613464 REVIEWED 1353603 TTIM1 T-cell tumor invasion and metastasis 1 1298665 1505215 7271 12400 147830 1603894 TTC9B tetratricopeptide repeat domain 9B 19 19 19 q13.2 37521518 37523859 - 45413805 45416138 - 40721965 40724306 - 6480464 12477932;14702039 148014 Q8N6N2 ABBA01040746;AC118344;AK054935;AK289550;AMYH01009799;BC029539;CA432622;CH471126;NM_152479 AAH29539;BAB70830;BAF82239;EAW56938;NP_689692;Q8N6N2 Hs.631572 2186816 RH66648 FLJ30373;MGC33962 TPR repeat protein 9B;tetratricopeptide repeat protein 9B protein-coding ENSG00000174521 26395 08329 VALIDATED 1601809 TTC9C tetratricopeptide repeat domain 9C 11 11 11 q12.3 59824556 59834712 + 62252528 62262684 + 62495952 62506108 + 6480464 19165527;12477932;19875381;22939629;20473970;21987572;21139048;21906983;22505724 283237 E7EST3;E9PKV8;H0YDR3;Q8N5M4;Q8WYY7 ABBA01003241;ABBA01003242;AF289605;AF451992;AF451993;AMYH01003690;AP001160;BC032123;BC053665;CH471076;NM_173810 AAH32123;AAH53665;AAL55789;AAP97691;AAP97692;ADR82671;EAW74086;EAW74087;NP_776171;Q8N5M4 Hs.31704 2176727;5015961;5022322;5037552 D11S2560;D15S1477;D8S2279;WI-15000 MGC29649 OTTHUMP00000236333;OTTHUMP00000236334;TPR repeat protein 9C;tetratricopeptide repeat protein 9C protein-coding ENSG00000162222 28432 14530 PROVISIONAL 1352742 TTF1 transcription termination factor, RNA polymerase I This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011] 9 9 q34.13 134240756 134272042 - 135250935 135282238 - 1580863;6480464;7240710 7597036;9582279;16565220;15489334;15231748;12477932;11532953;11250901;8889548;8125298;15173172;15292447;19464057;20448178;20513429;22495359;23358112;16341674;15342556;10504331;19487567;21836486;20471712;21203907;21716147;22460811;22383580;22237264;21838611;22586326;22085929;22940844 7270 Q15361 ABBA01032487;AK225119;AK302902;AL353701;AMYH01021787;BC050734;BC062692;BC104639;BC127669;BC127670;BC143048;BC143049;BC143821;BM827593;BP209178;BU195816;BU674009;CH471090;NM_001205296;NM_007344 AAH50734;AAH62692;AAI04640;AAI27670;AAI27671;AAI43049;AAI43050;AAI67784;BAG64074;EAW88001;EAW88002;NP_001192225;NP_031370;Q15361 Hs.54780;Hs.732733 1674077;1735886;2218120;5015961 D15S1477;D9S1005E;RH65956;TTF1_3359 TTF-1;TTF-I OTTHUMP00000022432;RNA polymerase I termination factor;TTF-1;TTF-I;transcription termination factor 1;transcription termination factor I APPROVED protein-coding ENSG00000125482 12397 02866 118700;600777;610978 REVIEWED 1605708 TTI1 TELO2 interacting protein 1 20 20 20 q11.23 33318467 33368903 - 36044837 36095247 - 36611423 36661833 - 6480464 22544753;17081983;15489334;12477932;11780052;9455477;20810650;17643375;20427287;20800603;20371770;20801936;22863883;21139048;21906983 9675 D6W4K3;O43156 AB007866;ABBA01006636;AK308164;AL109823;AMYH01011902;BC013121;BC013755;BC107778;BC131759;BR000854;CH471077;NM_014657 AAH13121;AAH13755;AAI07779;AAI31760;BAA23702;EAW76047;EAW76048;EAW76049;EAW76050;FAA00688;NP_055472;O43156 Hs.655481 1662599;2135128;2137513;2168496 D20S1055;RH48048;SHGC-30761;WIAF-2548 KIAA0406;smg-10 OTTHUMP00000030950;OTTHUMP00000030952;TEL2-interacting protein 1 homolog;TELO2-interacting protein 1 homolog;Tel two interacting protein 1;Tel2 interacting protein 1 homolog;smg-10 homolog, nonsense mediated mRNA decay factor APPROVED protein-coding ENSG00000101407 29029 13799 614425 PROVISIONAL 1319323 TTF2 transcription termination factor, RNA polymerase II This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008] 1 1 1 p22 115831559 115874100 + 117404472 117447015 + 117602949 117645492 + 6480464;7240710 9748214;16710414;15489334;15467445;15320969;15231748;15125840;12927788;12477932;12165566;10455150;1916263;19505873;17577209;18029348;22939629;20211142;21139048;21890473;21906983;19343720;21987572;22505724;22797925 8458 Q59EG6;Q9UNY4 AB209845;ABBA01068498;ABBA01068499;AF073771;AF080255;AI991355;AK291017;AL139248;AL391476;AL445231;AMYH01000972;AW027795;BC015341;BC030058;BI857056;BQ422564;BU182600;CH471122;H81916;NM_003594 AAC64044;AAD49435;AAH30058;BAD93082;BAF83706;EAW56666;EAW56667;NP_003585;Q9UNY4 Hs.486818;Hs.735195 1657596;1658380;1693570;1736896;2160922;2218122;5014051;5020948;5022200;5022578;5022651;5037552;5109362 AL009804;D11S2921;D17S1239;D1S1423;D1S2207;D8S2278;D8S2279;G16253;G35510;L18426;SHGC-36321;SHGC-58477;TTF2_3489 HuF2 F2;OTTHUMP00000013818;RNA polymerase II termination factor;human factor 2;lodestar homolog;lodestar protein;transcription release factor 2;transcription termination factor 2 APPROVED protein-coding ENSG00000116830 12398 05280 241850;604718 REVIEWED 732112 TTL tubulin tyrosine ligase TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008] 2 2 2 q13 106625279 106675764 + 112956214 113006694 + 113239743 113290223 + 6480464 15489334;15146197;14571137;12477932;11431336;8889549;8093886;20468071;19322201 150465 Q8NG68 AA099055;AB071393;ABBA01074257;ABBA01074258;AC012442;AK026673;AK126378;AK126549;AMYH01010963;AMYH01010964;AMYH01010965;AMYH01010966;BC036331;BC036707;BC036819;BC046913;BX538316;BX647135;BX649144;CH471217;CN361230;NM_153712 AAH36819;AAX81998;ABM85001;BAC06832;CAD98091;EAW73589;NP_714923;Q8NG68 Hs.358997 1342323;1678503;1678993;1688054;1849575;1849577;2135562;2140495;2157811;2163854;5015615;5015661;5015861;5020423;5020971;5022637;5115198;5118342;5118412;5118686 A001Z19;A006E06;D10S16;D11S1053;D11S2442;D11S2766;D11S3076;D11S3206;D11S3270;D11S3553;D3S3184;D5S411;G20738;HSC189_(GAP_286);RH11534;RH15646;RH16637;RH36646;SHGC-2336;WI-21462 MGC46235 2410003M22Rik;OTTHUMP00000161991;tubulin--tyrosine ligase;tubulin-tyrosine ligase APPROVED protein-coding ENSG00000114999 21586 12206 608291 VALIDATED 1313655 TTK TTK protein kinase This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] 6 6 q13-q21 80771078 80808958 + 80714322 80752244 + 1580863;6480464;6907045 18243099;7737118;20980622;10366450;1639825;19018011;19332559;19151762;19015317;18923149;18794806;18541701;18480048;18083840;18071315;17804818;17728254;17573779;17452325;17388661;17268814;17210994;16864798;16080195;15618221;15304323;14702039;14657364;12686615;12477932;11927556;7678926;1956325;11799066;21163887;19120698;16344560;17439397;17981789;18452554;19274768;19459850;19530738;20057968;20508983;20624898;20624899;20624901;20624902;20884615;20729194;20937696;12351790;16446370;17998396;18680479;20100468;20861309;20422024;21402910;23067341;22935710;21587233;21533207;22045814;21475725;22318606;20360068;21139048;21778823;21890473;21900206;21906983;22660415;21832049;22939629;23383273;22430208;23569217;22732840;22505724;9311822;19273613 7272 D6REX1;D6RF82;D6RFY1;D6RIC6;P33981 ABBA01040421;AK095599;AK292460;AK315696;AL133475;AMYH01016460;AU154042;AX775733;BC000633;BC032858;CH471051;DA853919;GM619913;JA807018;JA807081;JA885921;JA886355;JA886789;JA887223;NM_001166691;NM_003318;X70500 AAH00633;AAH32858;ABM82886;ABM86076;BAF85149;BAG38059;CAA49912;CAE11566;CAV33297;CCO75436;CCO75438;CCQ77693;CCQ77702;CCQ77711;CCQ77720;EAW48699;EAW48700;NP_001160163;NP_003309;P33981 Hs.169840 1684296;2107725;2123629 D6S2407;RH1535;TTK_7894 CT96;ESK;FLJ38280;MPH1;MPS1;MPS1L1;PYT OTTHUMP00000016777;OTTHUMP00000016778;OTTHUMP00000220743;cancer/testis antigen 96;dual specificity protein kinase TTK;monopolar spindle 1-like 1;phosphotyrosine picked threonine kinase;phosphotyrosine picked threonine-protein kinase APPROVED protein-coding ENSG00000112742 12401 04973 604092 REVIEWED 1604785 TTI2 TELO2 interacting protein 2 This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013] 8 8 8 p12 32305939 32320408 - 33475775 33490245 - 33356027 33370703 - 6480464 16344560;15489334;14702039;12477932;20810650;17643375;20801936;19322201;21139048;21906983;22505724 80185 E5RHM7;E5RIH5;Q6NXR4 ABBA01023609;AC091144;AI890434;AK026916;AK308918;AL530920;AMYH01018631;BC007387;BC066935;BX648410;CH471080;CS300619;DA617987;DB047280;DB112682;DB113350;NG_033257;NM_001102401;NM_001265581;NM_025115 AAH07387;AAH66935;ADZ16050;BAB15590;CAK32283;EAW63397;EAW63398;EAW63399;NP_001095871;NP_001252510;NP_079391;Q6NXR4 Hs.742048;Hs.77135 1652276;1674174;5017857 27STS02;G29147;SHGC-32777 C8orf41;FLJ23263 OTTHUMP00000225463;OTTHUMP00000225464;OTTHUMP00000225465;OTTHUMP00000225527;TELO2-interacting protein 2;Tel2 interacting protein 2 homolog;hypothetical protein LOC80185;uncharacterized protein C8orf41 APPROVED protein-coding ENSG00000129696 26262 13390 614426 REVIEWED 1602419 TTLL10 tubulin tyrosine ligase-like family, member 10 1 1 1 p36.33 1449545 1473572 - 1104940 1111104 + 1109286 1133313 + 6480464 15890843;14702039;12477932;19524510;18029348 254173 J3QRK8;Q6ZVT0 ABBA01016022;AK093438;AK124125;AL162741;AL390719;AMYH01000116;AMYH01000117;BC027945;BC126152;BC126154;BX117374;CH471183;NM_001130045;NM_153254 AAI26153;AAI26155;BAC04164;BAC85781;EAW56285;EAW56286;NP_001123517;NP_694986;Q6ZVT0 Hs.454835 1738293 D1S63 FLJ36119;FLJ42131;RP5-902P8.1;TTLL5 OTTHUMP00000000973;OTTHUMP00000000974;inactive polyglycylase TTLL10;tubulin tyrosine ligase-like family, member 5;tubulin--tyrosine ligase-like protein 10 protein-coding ENSG00000162571 26693 08771 VALIDATED 1604421 TTLL13 tubulin tyrosine ligase-like family, member 13 15 15 15 q26.1 67197100 67206662 + 88593768 88603316 + 90792764 90802312 + 15890843;12477932 440307 A6NNM8 ABBA01053049;AC091167;AK127965;AMYH01006921;BC036668;BC144453;CH471101;NM_001029964 A6NNM8;AAI60183;BAG54607;EAX02094;EAX02095;NP_001025135 Hs.632164 1342154 D15S522 FLJ46079;MGC33417 tubulin polyglutamylase TTLL13;tubulin--tyrosine ligase-like protein 13 protein-coding ENSG00000213471 32484 VALIDATED 1319289 TTLL1 tubulin tyrosine ligase-like family, member 1 22 22 22 q13.1 27346102 27395837 - 41765589 41815373 - 43435522 43485434 - 1580863;6480464 16344560;15890843;15489334;15461802;14702039;12529303;12477932;11230166;11054573;10591208;8724849;19767753;20379614;20564319 25809 O95922 ABBA01017909;ABBA01017910;ABBA01017911;ABBA01017912;AF104927;AF173935;AI369631;AK095996;AK315658;AL022237;AL022476;AL096883;AL096886;AL136687;AL589867;AMYH01012825;BC009058;BC014968;BF433080;BG911167;CH471138;CR456599;DA247656;NM_012263;NR_027779 AAF91088;AAG29879;AAH14968;ABM83124;ABM86319;BAG38024;BAG53193;CAB51423;CAB51469;CAB66622;CAC34478;CAG30485;CAK54630;CAK54929;EAW73279;EAW73280;EAW73281;NP_036395;O95922 Hs.660298 2137363 D22S649 C22orf7;HS323M22B OTTHUMP00000198278;OTTHUMP00000203022;PGs3;catalytic subunit of neural tubulin polyglutamylase;probable tubulin polyglutamylase TTLL1;tubulin polyglutamylase complex subunit 3;tubulin--tyrosine ligase-like protein 1;tubulin-tyrosine ligase protein-coding ENSG00000100271 1312 10604 608955 VALIDATED 1322671 TTLL11 tubulin tyrosine ligase-like family, member 11 9 9 9 q33.2 95232653 95504178 - 123791010 123895706 - 124584204 124855885 - 6480464 15890843;15164053;14702039;12477932;10737800;20379614;20583170;20467438;22699663 158135 B1AP70;F8W6M1;Q6ZUZ3;Q8NHH1 ABBA01000329;ABBA01000330;ABBA01000331;ABBA01043706;ABBA01043707;ABBA01043708;AF521886;AF521887;AK055126;AK125178;AL162423;AL442634;AL445587;AL596244;AMYH01021693;AMYH01021694;BC089452;BC171751;CH471090;CV357789;NM_001139442;NM_194252 AAM81328;AAM81329;BAC86073;EAW87505;EAW87506;EAW87507;EAW87508;EAW87509;NP_001132914;NP_919228;Q8NHH1 Hs.640663 1647723;1658451;1676882;1752455;1758135;1758669;1765305;1771412;2128585;2147397 D9S1047E;D9S2155;FB24A12;G09327;RH78203;RH99098;SHGC-106344;SHGC-147496;SHGC-148799;SHGC-149117 C9orf20;RP11-429D3.1;bA244O19.1 OTTHUMP00000022031;OTTHUMP00000022032;chromosome 9 open reading frame 20;tubulin polyglutamylase TTLL11;tubulin--tyrosine ligase-like protein 11 protein-coding ENSG00000175764 18113 10047 VALIDATED 1313087 TTLL2 tubulin tyrosine ligase-like family, member 2 6 6 6 q27 168481306 168498910 + 167658564 167676167 + 167738574 167756177 + 1580863;6480464 14702039;12477932;11054573;8125298;23382691 83887 D6R9R4;Q9BWV7 ABBA01033432;AK093039;AK098527;AK225984;AK301755;AK314450;AL021331;AMYH01016858;AY026506;BC030650;BC047411;CH471051;HC007366;HC044589;NM_031949 AAH30650;AAH47411;AAK20169;ADZ15631;BAG37058;BAG52639;BAG63216;CBH19488;CBH30624;EAW47498;NP_114155;Q9BWV7 Hs.520554 1685634;1711280 RH91835;SHGC-89287 C6orf104;NYD-TSPG;dJ366N23.3 OTTHUMP00000017625;OTTHUMP00000220506;probable tubulin polyglutamylase TTLL2;testis-specific protein NYD-TSPG;tubulin--tyrosine ligase-like protein 2 protein-coding 21211 18240 VALIDATED 6481026 TTLL7-IT1 TTLL7 intronic transcript 1 (non-protein coding) 100874314 AC104454 miscrna 41486 2290198 TTLL8 tubulin tyrosine ligase-like family, member 8 22 22 22 q13.33 34329184 34368139 - 48795679 48835182 - 50466026 50496665 - 6480464 15890843 164714 A6PVC2;B5MDV0;J3KQ54 ABBA01011368;AL022327;AMYH01012891;AMYH01012892;XM_003403494;XM_003403745;XM_003960821 A6PVC2;XP_003403542;XP_003403793;XP_003960870 1738477 D22S1056 OTTHUMP00000196723;protein monoglycylase TTLL8;tubulin tyrosine ligase-like family, member 8;tubulin--tyrosine ligase-like protein 8 protein-coding 34000 MODEL 1322614 TTLL3 tubulin tyrosine ligase-like family, member 3 3 3 3 p25.3 9786607 9813341 + 9826405 9853040 + 9851644 9878040 + 1580863;6480464 16344560;15342556;14702039;12477932;11054573;8889548;19524510 26140 C9IZU0;C9JKU2;C9JNK2;C9JNK7;C9JQ30;C9JRM2;C9JSD3;C9JUK0;C9JW59;C9JWZ9;C9JZ73;E5RGZ6;F8WBP6;F8WD18;H0Y5E3;H3BLT7;H7C0T5;H7C197;J3KQB2;Q9Y4R7;R4GMR7;R4GMW2;R4GN12 AA742169;ABBA01020398;ABBA01020399;AC018809;AC022382;AF078842;AK023960;AK097236;AK125875;AK297289;AK315140;AL096725;AL833939;AMYH01012964;BC009479;BC028169;BC098298;BC098361;BC099735;BC105638;BM674442;BM717061;BP357921;BX440835;CB854808;DA267460;NM_001025930;NR_037162 AAF23353;AAH98298;AAH98361;AAH99735;AAI05639;BAB14741;BAG37589;BAG59759;CAB46375;CAD38794;NP_001021100;Q9Y4R7 Hs.726435 1778680;1855946;2110003;2180457;5015619;5022200;5037552 D11S3114;D8S2279;L18426;RH17932;RH47393;SHGC-33325;TTLL3_9463 DKFZp434B103;DKFZp686D076;FLJ13898;HOTTL;MGC120529;MGC120530;MGC120532 OTTHUMP00000165250;tubulin monoglycylase TTLL3;tubulin--tyrosine ligase-like protein 3 protein-coding ENSG00000214021 24483 15585 VALIDATED 1604381 TTLL12 tubulin tyrosine ligase-like family, member 12 22 22 22 q13.31 27473015 27493525 - 41892572 41913051 - 43562628 43583137 - 6480464 15890843;15489334;15461802;12477932;10591208;8590280;20162578;22939629;16449650;22863883;16196087;18781797;20360068;19471022;21139048;21890473;21906983;21252943;22586326;19738201;21963094;21988832;22623428;23251473;22053931;22505724 23170 Q14166 ABBA01017907;AK123789;AK304464;AL590888;AMYH01012826;BC001070;BE785973;BX411143;CH471138;CT841516;D63487;NM_015140;Z82214 AAH01070;BAA09774;BAG65280;CAC37415;CAJ86446;EAW73291;EAW73292;NP_055955;Q14166 Hs.517670 1757261;2128161 RH25372;SHGC-144679 FLJ41795;KIAA0153;dJ526I14.2 OTTHUMP00000198234;OTTHUMP00000198249;tubulin--tyrosine ligase-like protein 12 protein-coding ENSG00000100304 28974 13782 VALIDATED 1605245 TTLL6 tubulin tyrosine ligase-like family, member 6 17 17 17 q21.32 43293738 43348592 - 44194601 44226685 - 46839593 46894469 - 6480464 16443334;15890843;14702039;12477932;21832049 284076 C9JMG1;F6QD81;F8W896;F8W9N0;F8WDP8;Q24KN7 ABBA01041174;ABBA01041175;ABBA01244693;AC068531;AK093127;AK097392;AK302952;AK310321;AL834151;AMYH01008456;AY898275;AY898276;AY898277;AY898278;AY898279;AY898280;AY898281;AY898282;AY898283;AY898284;AY898285;AY898286;AY898287;AY898288;AY898289;AY898290;AY898291;AY898292;AY898293;AY898294;AY898295;AY898296;AY898297;AY898298;AY898299;AY898300;AY898301;AY898302;AY898303;AY898304;AY898305;AY898306;AY898307;AY898308;AY898309;AY898359;AY898360;AY898361;AY898362;AY898363;AY898364;AY898365;AY898366;AY898367;AY898368;AY898369;AY898370;AY898371;AY898372;AY898373;AY898374;AY898375;AY898376;AY898377;AY898378;AY898379;AY898380;AY898381;AY898382;AY898383;AY898384;AY898385;AY898386;AY898387;AY898388;AY898389;AY898390;AY898391;AY898392;AY898393;AY898401;AY898402;AY898403;AY898404;AY898405;AY898406;AY898407;AY898408;AY898409;AY898410;AY898411;AY898412;AY898413;AY898414;AY898415;AY898416;AY898417;AY898418;AY898419;AY898420;AY898421;AY898422;AY898423;AY898424;AY898425;AY898426;AY898427;AY898428;AY898429;AY898430;AY898431;AY898432;AY898433;AY898434;AY898435;AY898443;AY898444;AY898445;AY898446;AY898447;AY898448;AY898449;AY898450;AY898451;AY898452;AY898453;AY898454;AY898455;AY898456;AY898457;AY898458;AY898459;AY898460;AY898461;AY898462;AY898463;AY898464;AY898465;AY898466;AY898467;AY898468;AY898469;AY898470;AY898471;AY898472;AY898473;AY898474;AY898475;AY898476;AY898477;AY898485;AY898486;AY898487;AY898488;AY898489;AY898490;AY898491;AY898492;AY898493;AY898494;AY898495;AY898496;AY898497;AY898498;AY898499;AY898500;AY898501;AY898502;AY898503;AY898504;AY898505;AY898506;AY898507;AY898508;AY898509;AY898510;AY898511;AY898512;AY898513;AY898514;AY898515;AY898516;AY898517;AY898518;AY898519;AY898527;AY898528;AY898529;AY898530;AY898531;AY898532;AY898533;AY898534;AY898535;AY898536;AY898537;AY898538;AY898539;AY898540;AY898541;AY898542;AY898543;AY898544;AY898545;AY898546;AY898547;AY898548;AY898549;AY898550;AY898551;AY898552;AY898553;AY898554;AY898555;AY898556;AY898557;AY898558;AY898559;AY898560;AY898561;AY898569;AY898570;AY898571;AY898572;AY898573;AY898574;AY898575;AY898576;AY898577;AY898578;AY898579;AY898580;AY898581;AY898582;AY898583;AY898584;AY898585;AY898586;AY898587;AY898588;AY898589;AY898590;AY898591;AY898592;AY898593;AY898594;AY898595;AY898596;AY898597;AY898598;AY898599;AY898600;AY898601;AY898602;AY898603;BC033563;BC041368;CH471109;NM_001130918;NM_173623 AAH33563;AAX86214;AAX86215;AAX86216;AAX86217;AAX86218;AAX86219;AAX86220;AAX86221;AAX86222;AAX86223;AAX86224;AAX86225;AAX86226;AAX86227;AAX86228;AAX86229;AAX86230;AAX86231;AAX86232;AAX86233;AAX86234;AAX86235;AAX86236;AAX86237;AAX86238;AAX86239;AAX86240;AAX86241;AAX86242;AAX86243;AAX86244;AAX86245;AAX86246;AAX86247;AAX86248;AAX86256;AAX86257;AAX86258;AAX86259;AAX86260;AAX86261;AAX86262;AAX86263;AAX86264;AAX86265;AAX86266;AAX86267;AAX86268;AAX86269;AAX86270;AAX86271;AAX86272;AAX86273;AAX86274;AAX86275;AAX86276;AAX86277;AAX86278;AAX86279;AAX86280;AAX86281;AAX86282;AAX86283;AAX86284;AAX86285;AAX86286;AAX86287;AAX86288;AAX86289;AAX86290;AAX86298;AAX86299;AAX86300;AAX86301;AAX86302;AAX86303;AAX86304;AAX86305;AAX86306;AAX86307;AAX86308;AAX86309;AAX86310;AAX86311;AAX86312;AAX86313;AAX86314;AAX86315;AAX86316;AAX86317;AAX86318;AAX86319;AAX86320;AAX86321;AAX86322;AAX86323;AAX86324;AAX86325;AAX86326;AAX86327;AAX86328;AAX86329;AAX86330;AAX86331;AAX86332;AAX86340;AAX86341;AAX86342;AAX86343;AAX86344;AAX86345;AAX86346;AAX86347;AAX86348;AAX86349;AAX86350;AAX86351;AAX86352;AAX86353;AAX86354;AAX86355;AAX86356;AAX86357;AAX86358;AAX86359;AAX86360;AAX86361;AAX86362;AAX86363;AAX86364;AAX86365;AAX86366;AAX86367;AAX86368;AAX86369;AAX86370;AAX86371;AAX86372;AAX86373;AAX86374;AAX86382;AAX86383;AAX86384;AAX86385;AAX86386;AAX86387;AAX86388;AAX86389;AAX86390;AAX86391;AAX86392;AAX86393;AAX86394;AAX86395;AAX86396;AAX86397;AAX86398;AAX86399;AAX86400;AAX86401;AAX86402;AAX86403;AAX86404;AAX86405;AAX86406;AAX86407;AAX86408;AAX86409;AAX86410;AAX86411;AAX86412;AAX86413;AAX86414;AAX86415;AAX86416;AAX86424;AAX86425;AAX86426;AAX86427;AAX86428;AAX86429;AAX86430;AAX86431;AAX86432;AAX86433;AAX86434;AAX86435;AAX86436;AAX86437;AAX86438;AAX86439;AAX86440;AAX86441;AAX86442;AAX86443;AAX86444;AAX86445;AAX86446;AAX86447;AAX86448;AAX86449;AAX86450;AAX86451;AAX86452;AAX86453;AAX86454;AAX86455;AAX86456;AAX86457;AAX86458;AAY28091;AAY28092;AAY28093;AAY28094;AAY28095;AAY28096;AAY28097;AAY28098;AAY28099;AAY28100;AAY28101;AAY28102;AAY28103;AAY28104;AAY28105;AAY28106;AAY28107;AAY28108;AAY28109;AAY28110;AAY28111;AAY28112;AAY28113;AAY28114;AAY28115;AAY28116;AAY28117;AAY28118;AAY28119;AAY28120;AAY28121;AAY28122;AAY28123;AAY28124;AAY28125;ADZ15428;BAC04066;BAG64107;CAH56366;EAW94709;EAW94710;EAW94711;EAW94712;EAW94713;NP_001124390;NP_775894;Q8N841 Hs.91930 1682796;1734438;1762597 D17S1408E;RH98445;SHGC-146395 FLJ35808;TTL.6 OTTHUMP00000211213;OTTHUMP00000211215;tubulin polyglutamylase TTLL6;tubulin--tyrosine ligase-like protein 6 protein-coding ENSG00000170703 26664 08763 610849 VALIDATED 1350630 TTLL5 tubulin tyrosine ligase-like family, member 5 This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010] 14 14 14 q24.3 56165656 56459559 + 75197374 75491175 + 76127551 76421425 + 6480464 17116691;17081983;15890843;14702039;12508121;12477932;10231032;20308539;16169070;16344560;18045879;19416867;20374646;10737800;20967262;19850743;21998595;21139048;20546900 23093 G3V2J9;G3V2U8;G3V4R8;Q2TAY9;Q6EMB2 AB023215;ABBA01030690;ABBA01030691;ABBA01030692;ABBA01030693;ABBA01030694;ABBA01030695;ABBA01030696;ABBA01030697;AC007182;AC009399;AF107885;AK021879;AK024259;AK309748;AL133586;AL136808;AL137329;AMYH01005860;AMYH01005861;AY237126;BC016625;BC110652;BC136472;BC136473;BX647530;CR533554;DA195275;GD137472;NG_016974;NM_015072 AAC79729;AAC79730;AAF23275;AAH16625;AAI10653;AAI36473;AAI36474;AAP75557;BAA76842;BAB14862;CAB63729;CAB66742;CAG38585;NP_055887;Q6EMB2 Hs.709609 1334545;1650700;1693786;1695480;1701164;1730775;1740637;1754649;1757197;1769399;1783152;2119710;2138432;2146114;2191491;5022450;5037552;7186057 D10S275;D14S101E;D14S1266;D14S61;D8S2279;G35922;G36179;MARC_23958-23959:1031924164:1;RH104210;RH45771;RH68902;SHGC-133005;SHGC-144613;SHGC-58923;SHGC-68622;SHGC-85765;WI-12476 KIAA0998;MGC117189;STAMP OTTHUMP00000246600;OTTHUMP00000246602;SRC1 and TIF2 associated binding protein;SRC1 and TIF2-associated modulatory protein;tubulin polyglutamylase TTLL5 APPROVED protein-coding ENSG00000119685 19963 08309 612268 REVIEWED 1315312 TTLL4 tubulin tyrosine ligase-like family, member 4 2 2 2 p24.3-p24.1 213343326 213387891 + 219283887 219327652 + 219575568 219620139 + 1580863;6480464 15489334;12477932;11054573;8724849;16344560;21890473;22959728 9654 C9J3I1;C9J982;C9JB60;E7EX20;E9PH58;H7BZY4;H7C1F7;H7C2S3;H7C421;H7C470;Q14679 ABBA01023858;AC009974;AK291770;AK296054;AK302728;AL833511;AMYH01011497;BC021707;CH471063;D79995;DB097392;NM_014640 AAH21707;BAA11490;BAF84459;BAG58817;BAG63947;EAW70651;EAW70652;NP_055455;Q14679 Hs.471405 1684884;1767421 RH12664;RH25389 KIAA0173 OTTHUMP00000164099;OTTHUMP00000206425;OTTHUMP00000206426;tubulin polyglutamylase TTLL4;tubulin--tyrosine ligase-like protein 4 protein-coding ENSG00000135912 28976 15586 VALIDATED 1345675 TTLL9 tubulin tyrosine ligase-like family, member 9 20 20 20 q11.21 27214847 27287214 + 29922166 29994519 + 30458505 30530858 + 6480464 15890843;14702039;12477932 164395 B4DZ96;H9KV73;Q3SXZ7 ABBA01019287;ABBA01019288;AK090839;AK093491;AK123328;AK302360;AK302806;AK303963;AL031658;AL160175;AL161969;AL359765;AMYH01011831;BC036213;BC068593;BC104024;BC104025;CH471077;NM_001008409 AAI04025;AAI04026;BAG52730;BAG63685;BAG64008;BAG64887;EAW76401;EAW76402;EAW76403;EAW76404;EAW76405;EAW76406;EAW76407;EAW76408;NP_001008409;Q3SXZ7 Hs.712915 1338483;1758877;2154128;2156583 D20S111;D20S425;SHGC-3398;WI-13573 C20orf125;MGC120486;MGC120487;dJ310O13.1 chromosome 20 open reading frame 125;probable tubulin polyglutamylase TTLL9;tubulin--tyrosine ligase-like protein 9 protein-coding ENSG00000131044 16118 16638 PROVISIONAL 1605943 TTLL7 tubulin tyrosine ligase-like family, member 7 1 1 1 p31.1 82585810 82715708 - 84107645 84237421 - 84335057 84464833 - 6480464 21145461;16710414;15890843;15489334;14702039;12477932;8125298;21832049;20061627;23006423;23251661 79739 F2Z2J7;F2Z2X2;Q6ZT98 ABBA01045660;AC104454;AK026686;AK094174;AK126792;AK128604;AK225574;AL138844;AMYH01000747;AY170843;BC028350;BC032829;BC048970;BC060878;BG718305;CH471097;NM_024686 AAH28350;AAH48970;AAH60878;AAO37763;ADZ15578;BAB15526;BAC86695;BAC87524;EAW73251;EAW73252;NP_078962;Q6ZT98 Hs.445826 1659449;1689584;1696712;1764569;2155204;5014051;5015619;5037552;5091071 D11S3114;D8S2278;D8S2279;G33190;RH93382;SHGC-148159;SHGC-30721;SHGC-56388;SHGC-83067 FLJ23033;FLJ36855;RP5-836J3.2 OTTHUMP00000011579;OTTHUMP00000011581;testis development protein NYD-SP30;tubulin polyglutamylase TTLL7;tubulin--tyrosine ligase-like protein 7 protein-coding 26242 08013 VALIDATED 1346232 TTTY1 testis-specific transcript, Y-linked 1 (non-protein coding) Y Y p11.2 10200765 10221928 - 9590765 9611898 - 12815542;12815422;9847074;9381176 50858 AC017019;NR_001538 Hs.584729 1750777;2135798;2188837 G34978;G65847;SHGC-102520 LINC00033;NCRNA00033;TTY1 miscrna ENSG00000129845 14022 PROVISIONAL 1344684 TTTY10 testis-specific transcript, Y-linked 10 (non-protein coding) Y Y Y q11.221 7335010 7388063 - 21036942 21090502 - 22627554 22681114 - 12815422 246119 Q9BZA0 ABBA01057441;ABBA01057442;ABBA01057443;ABBA01057444;ABBA01057445;ABBA01057446;ABBA01057447;ABBA01057448;ABBA01057449;AC011745;NR_001542 Hs.461175 2178950;2188721;2188735;2188737 DYS392;G66563;G66570;G66571 NCRNA00133;TTY10 miscrna ENSG00000229236 18491 PROVISIONAL 1354260 TTTY11 testis-specific transcript, Y-linked 11 (non-protein coding) Y Y Y p11.2 536301 570370 + 8711354 8745423 - 8651354 8685423 - 12815422 83866 ABBA01060262;ABBA01060263;ABBA01060264;ABBA01060265;ABBA01060266;AC009491;NR_001548 Hs.122396 2171384;2188203 DXS7410;G66267 NCRNA00134;TTY11 miscrna ENSG00000180910 18492 PROVISIONAL 1350774 TTTY12 testis-specific transcript, Y-linked 12 (non-protein coding) Y Y Y p11.2 1542988 1548747 - 7732965 7738724 + 7672965 7678724 + 12815422 83867 Q9BZ98 ABBA01060164;AC007275;NR_001551 Hs.667616 NCRNA00135;TTY11;TTY12 miscrna ENSG00000237048 18493 PROVISIONAL 1346031 TTTY13 testis-specific transcript, Y-linked 13 (non-protein coding) Y Y Y q11.223 8424879 8435945 - 22154874 22165940 - 23745486 23756552 - 1580863 12815422 83868 Q9BZ97 ABBA01049543;ABBA01049544;AC021107;NG_004832;NR_001537 Hs.615432 NCRNA00136;TTY13 APPROVED miscrna ENSG00000184991 18494 PROVISIONAL 4105754 TTTY13B testis-specific transcript, Y-linked 13B Y Y p11.2 120176 122776 - 9107322 9109922 + 8565703 100287735 Q9UMI4 AC009952;X82181;XM_002344439;XM_002346351 CAA57672;XP_002344480;XP_002346392 pFIV testis-specific transcript, Y-linked 13B;uncharacterized protein LOC100287735 miscrna 38596 4109270 TTTY13C testis-specific transcript, Y-linked 13C Y Y p11.2 348873 352257 + 8869469 8872853 - 100287979 XM_002344202;XM_002346350 XP_002344243;XP_002346391 testis-specific transcript, Y-linked 13C protein-coding 38613 1352248 TTTY15 testis-specific transcript, Y-linked 15 (non-protein coding) Y Y Y q11.1 1767585 1797440 + 13283692 13313547 + 14774298 14804153 + 6480464 12815422 64595 ABBA01065622;ABBA01065623;ABBA01065624;AC004810;AL080135;NR_001545 Hs.433656 1678845;1678853;1690516;1772716;2188313;2188321;2188323;2188329 DYS273;G66190;G66194;G66196;G66200;RH38675;RH92730;RH94046 DKFZp434I143;NCRNA00138 miscrna ENSG00000233864 18567 PROVISIONAL 1349594 TTTY16 testis-specific transcript, Y-linked 16 (non-protein coding) Y Y Y p11.2 1652424 1654314 + 7627398 7629288 - 7567398 7569288 - 12815422 252948 AC007274;AF527828;NR_001552 Hs.522848 NCRNA00139 miscrna ENSG00000225520 18840 PROVISIONAL 1343062 TTTY17A testis-specific transcript, Y-linked 17A (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.2 10803315 10804446 + 23407119 23408250 + 24997731 24998862 + 12815422 252949 AC016911;AF527829;NG_004755;NR_001526 Hs.522869 NCRNA00140;TTTY17 testis-specific transcript, Y-linked 17A;testis-specific transcript, y-linked 17 APPROVED miscrna ENSG00000228240 18841 400040 VALIDATED 1351032 TTTY17B testis-specific transcript, Y-linked 17B (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y q11.223 25040867 25041998 + 26631479 26632610 + 12815422 474151 ABBA01111499;AC016698;NG_004755;NR_002180 Hs.741142 NCRNA00141 APPROVED miscrna ENSG00000227439 31889 VALIDATED 1347507 TTTY17C testis-specific transcript, Y-linked 17C (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y q11.223 25739178 25740308 - 27329790 27330920 - 12815422 474152 AC006386;NG_004755;NR_002179 Hs.741142 NCRNA00142 APPROVED miscrna ENSG00000223641 31890 VALIDATED 1351766 TTTY18 testis-specific transcript, Y-linked 18 (non-protein coding) Y Y Y p11.2 669820 670328 + 8611411 8611919 - 8551411 8551919 - 12815422 252950 ABBA01060253;AC064829;AF527830;NR_001550 Hs.522852 NCRNA00143 miscrna ENSG00000233699 18842 PROVISIONAL 1349939 TTTY19 testis-specific transcript, Y-linked 19 (non-protein coding) Y Y Y p11.2 648405 649216 - 8632513 8633324 + 8572513 8573324 + 12815422 252952 ABBA01060254;AC064829;AF527831;NR_001549 Hs.522853 NCRNA00144 miscrna ENSG00000232419 18843 PROVISIONAL 1342643 TTTY14 testis-specific transcript, Y-linked 14 (non-protein coding) Y Y Y q11.222 6534238 6560211 + 19553973 19698690 - 21213329 21239302 - 6480464 12815422;16344560;20967262 83869 ABBA01073718;ABBA01073719;ABBA01073720;AC007244;AC009235;AF332243;AI686166;BG430850;BI754238;BI824313;DA411985;DB155066;FY210693;FY211103;FY211594;NR_001543 Hs.138453;Hs.729534;Hs.734681 1662914;1686452;1688196;1743969;1743973;1743975;1744969;1795060;1795510;2152614;2188635;2188637;2188643;2188653;2188905;5116798 CD24_1314;DYS415;G65966;G66370;G66371;G66374;G66379;GDB:384220;GDB:384235;GDB:384236;GDB:585571;PMC95860P1;RH15606;RH66795;RH70313;sY3188 CYorf14;NCRNA00137;NCRNA00185;PRO2834;TTY14 miscrna 18495 VALIDATED 3340286 TTTY1B testis-specific transcript, Y-linked 1B (non-protein coding) Y Y p11.2 2928162 2949325 - 6258442 6279605 + 12815422;9847074 100101116 ABBA01031142;AC006335;NR_003589 Hs.722842 1750777;2135798;2188837 G34978;G65847;SHGC-102520 miscrna ENSG00000129816 37981 VALIDATED 1353377 TTTY2 testis-specific transcript, Y-linked 2 (non-protein coding) Y Y Y p11.2 2911282 2933482 + 10183895 10206085 + 9573895 9596085 + 6480464 12815422;9381176 60439 AC017019;DB449030;NR_001536 Hs.158345 1750777;2135798;2187981;2188845;5127478 G34978;G34980;G65854;G66137;SHGC-102520 NCRNA00109;TTY2;lINC00109 miscrna 14023 VALIDATED 1348529 TTTY20 testis-specific transcript, Y-linked 20 (non-protein coding) Y Y p11.2 9227489 9232441 - 9167489 9172441 - 12815422 252951 AC006158;AF527832;NR_001546 Hs.632292 1790965;5115902 sY1249;sY1293 NCRNA00145 miscrna ENSG00000232808 18844 PROVISIONAL 1352031 TTTY21 testis-specific transcript, Y-linked 21 (non-protein coding) Y Y Y p11.2 2892649 2896292 - 10165262 10168905 - 9555262 9558905 - 12815422 252953 AC017019;AF527833;NR_001535 Hs.522847;Hs.742642 NCRNA00146 miscrna ENSG00000228890 18845 PROVISIONAL 1343579 TTTY22 testis-specific transcript, Y-linked 22 (non-protein coding) Y Y Y p11.2 2976159 2989205 + 10248762 10260854 + 9638762 9650854 + 12815422 252954 AC010891;AC017019;AF527834;NR_001539 Hs.511961 1750783 SHGC-102963 NCRNA00147 miscrna ENSG00000224075 18846 PROVISIONAL 1346646 TTTY23 testis-specific transcript, Y-linked 23 (non-protein coding) Y Y Y p11.2 3086749 3087913 + 10358407 10359571 + 9748407 9749571 + 12815422 252955 ABBA01031143;AC006986;AF527836;NR_001540 Hs.522846;Hs.741140 NCRNA00148 miscrna ENSG00000239225 18847 PROVISIONAL 3340275 TTTY23B testis-specific transcript, Y-linked 23B (non-protein coding) Y p11.2 6110487 6111651 - 12815422;9847074 100101121 AC006335;AF527836;NR_003593 Hs.522846 miscrna ENSG00000237069 37983 VALIDATED 3028768 TTTY24P testis-specific transcript, Y-linked 24, pseudogene Y Y p11.2 383242 383631 - 8838096 8838485 + 100287941 ABBA01060282;AC007967;NG_031896 pseudo 38521 INFERRED 3340303 TTTY21B testis-specific transcript, Y-linked 21B (non-protein coding) Y p11.2 6311475 6315118 + 12815422;9847074 100101115 ABBA01031142;AC006335;AF527833;NR_003588 Hs.522847 miscrna ENSG00000237563 37980 VALIDATED 3254938 TTTY25P testis-specific transcript, Y-linked 25, pseudogene Y Y q11.223 9003741 9004211 - 24477679 24478149 + 100287026 ABBA01005812;AC007320;NG_032203 pseudo 38524 INFERRED 3051035 TTTY26P testis-specific transcript, Y-linked 26, pseudogene Y Y p11.2 1692924 1693502 + 7528211 7528789 - 100287818 AC007274 pseudo 38528 3051033 TTTY27P testis-specific transcript, Y-linked 27, pseudogene Y Y p11.2 839141 839536 - 8382203 8382598 + 100287874 AC016991 pseudo 38527 3102875 TTTY28P testis-specific transcript, Y-linked 28, pseudogene Y Y q11.23 9215242 9215641 + 28289709 28290108 + 100287606 AC006991 pseudo 38534 3231840 TTTY29P testis-specific transcript, Y-linked 29, pseudogene Y q11.223 25672802 25673201 - 100287167 AC009947 pseudo 38547 3340311 TTTY2B testis-specific transcript, Y-linked 2B (non-protein coding) Y p11.2 6274285 6296485 - 12815422;9847074 100101117 ABBA01031142;AC006335;NR_003590 Hs.723046 1750777;2135798;2187981;2188845;5115898 G34978;G65854;G66137;SHGC-102520;sY1229 miscrna 37982 VALIDATED 4105739 TTTY30P testis-specific transcript, Y-linked 30, pseudogene Y Y p11.2 1099407 1099901 + 8121813 8122307 - 100287844 ABBA01060214;AC016749;NG_032208 1741983 DYF48S1 pseudo 38604 INFERRED 6766821 TTN-AS1 TTN antisense RNA 1 2 179387554 179484944 + 12477932;14702039;16344560 100506866 ABBA01062246;ABBA01062247;AC009948;AC010680;AK093733;AK094031;AMYH01011305;BC041357;BC070113;DB229458;FJ695199;NR_038271;NR_038272 Hs.710694 1644257;1663008;1679229;1734752;1734762;1734770;1734774;1734786;1734792;1734798;1734802;1734804;1734806;1734820;1734840;1849420;1857542;2127605;2167790;2185744 D2S1519E;D2S1540E;D2S1546E;D2S1550E;D2S1553E;D2S1560E;D2S1564E;D2S1568E;D2S1570E;D2S1571E;D2S1572E;D2S1580E;D2S1593E;D2S2648;RH48674;RH65575;RH65621;RH65766;RH78892;RH98821 APPROVED miscrna ENSG00000237298 44124 VALIDATED 4109286 TTTY31P testis-specific transcript, Y-linked 31, pseudogene Y Y p11.2 425680 426664 - 8795089 8796046 + 100287905 AC007967 pseudo 38711 1349314 TTTY3B testis-specific transcript, Y-linked 3B (non-protein coding) There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y q11.223 24492262 24497157 - 26082874 26087769 - 12815422 474148 ABBA01000444;AC073893;NG_004755;NR_002176 Hs.511777 2181570 L17696 LNCRNA00122;NCRNA00122 APPROVED miscrna 31888 VALIDATED 1348326 TTTY4 testis-specific transcript, Y-linked 4 (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.2 10888193 10924998 + 23491990 23528819 + 25082602 25119431 + 12815422;22736055 114761 ABBA01017884;AC006366;AF332231;NG_004755;NR_001525 Hs.679521 LINC00123;NCRNA00123;TTTY4A;TTY4 APPROVED miscrna ENSG00000226906 16481 400037 VALIDATED 1350699 TTTY4B testis-specific transcript, Y-linked 4B (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y q11.223 25125737 25162560 + 26716349 26753172 + 12815422 474149 AC010153;NG_004755;NR_002178 Hs.679521 LINC00124;NCRNA00124 APPROVED miscrna ENSG00000235412 31891 VALIDATED 1353688 TTTY4C testis-specific transcript, Y-linked 4C (non-protein coding) There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008] Y Y q11.223 25618618 25655427 - 27209230 27246039 - 12815422 474150 AC016728;NG_004755;NR_002177 Hs.742604 LINC00125;NCRNA00125 APPROVED miscrna ENSG00000228296 31892 VALIDATED 1350311 TTTY3 testis-specific transcript, Y-linked 3 (non-protein coding) There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.23 10156303 10161201 - 26284025 26288923 + 27874637 27879535 + 12815422 114760 AC010682;AF332230;NG_004755;NR_001524 Hs.511777 2181570 L17696 LINC00121;NCRNA00121;TTTY3A;TTY3 APPROVED miscrna ENSG00000231141 16480 400036 VALIDATED 1605324 TTTY5 testis-specific transcript, Y-linked 5 (non-protein coding) There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008] Y Y Y q11.223 9036866 9038944 + 22852333 22854411 - 24442945 24445023 - 12815422;11687796 83863 ABBA01005808;AC007320;NG_004755;NR_001541 Hs.121389 LINC00126;NCRNA00126;TTY5 APPROVED miscrna ENSG00000215560 16482 15587 400038 VALIDATED 1353962 TTTY6 testis-specific transcript, Y-linked 6 (non-protein coding) There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.223 8894290 8896156 + 22995128 22996994 - 24585740 24587606 - 12815422 84672 ABBA01005818;AC007320;NG_004755;NR_001527 Hs.535085 LINC00127;NCRNA00127;TTTY6A;TTY6 APPROVED miscrna ENSG00000131538 16483 400039 VALIDATED 1347321 TTTY6B testis-specific transcript, Y-linked 6B (non-protein coding) There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y q11.223 22700522 22702369 + 24291134 24292981 + 12815422;17114936 441543 AA884105;AC023342;AY597808;NG_004755;NR_002175 Hs.535085;Hs.722660 LINC00128;NCRNA00128;TTTY6;TTY6 APPROVED miscrna ENSG00000131548 31887 VALIDATED 1348603 TTTY7 testis-specific transcript, Y-linked 7 (non-protein coding) Y Y p11.2 6377509 6385947 + 6317509 6325947 + 12815422 246122 ABBA01031142;AC006335;AF278761;AF278762;AF332232;AW514248;NR_001534 Hs.407277 1676560;2188879;2188881 G65950;G65951;RH92478 CLONE795723;LINC00129;NCRNA00129;TTTY7A;TTTY7B;TTY7 miscrna ENSG00000147753 18488 VALIDATED 2798411 TTTY7B testis-specific transcript, Y-linked 7B (non-protein coding) Y Y Y p11.2 2881820 2890258 - 10154433 10162871 - 9544433 9552871 - 12815422;9847074 100101120 AC017019;BX089948;NR_003592 Hs.711912 1676560;2188879;2188881 G65950;G65951;RH92478 NCRNA00215 miscrna ENSG00000147761 37463 VALIDATED 1353702 TTTY9A testis-specific transcript, Y-linked 9A (non-protein coding) This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.222 6873997 6883312 - 19351156 19360471 + 20891768 20901083 + 12815422 83864 ABBA01073681;AC007379;BX279935;NG_004636;NR_001530 Hs.536002;Hs.724282 5021778;5022977;5116134;5116156 sY1950;sY1951;sY1967;sY1982 NCRNA00131;TTTY9;TTY9 testis-specific transcript, Y-linked 9A;testis-specific transcript, y-linked 9 APPROVED miscrna ENSG00000131009;ENSG00000242153 18490 REVIEWED 2798400 TTTY8B testis-specific transcript, Y-linked 8B (non-protein coding) Y Y p11.2 6400961 6401623 - 6339072 6341671 - 12815422;9847074 100101118 AA620621;ABBA01031142;AC010154;AF332235;BC026100;NR_003591 Hs.461138 NCRNA00217 miscrna ENSG00000185700 37622 VALIDATED 1603457 TTTY9B testis-specific transcript, Y-linked 9B (non-protein coding) This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y q11.221 19202480 19211795 - 20743092 20752407 - 17114936;12815422 425057 AC022486;NG_004636;NG_012030;NR_002159 Hs.724282 5021778;5022977;5116134;5116156 sY1950;sY1951;sY1967;sY1982 NCRNA00132;TTTY9;TTTY9A;TTY9 APPROVED miscrna ENSG00000131007 32425 REVIEWED 731914 TTPA tocopherol (alpha) transfer protein This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009] 8 8 q12.3 64135985 64161166 - 63972047 63998612 - 1600430;1600432;1600436;1580863;6480464;7240710 7719340;12448818;9178827 7887897;19190344;19102053;18984846;18511174;18458085;16819822;15489334;15300460;15190938;15065857;14657365;12899840;12477932;12470185;9931538;9463307;8602747;8252047;7566022;19458973;8965888;17207965;16226712;21110980;20801516;20301419;20826775;21832049;22752767;23599266 7274 P49638 ABBA01041833;AC120042;AMYH01018762;BC041784;BC058000;CH471068;D49488;NG_016123;NM_000370;U21938 AAA64309;AAH58000;ADQ32097;BAA08449;EAW86863;NP_000361;P49638 Hs.69049 2138174 SHGC-35358 ATTP;AVED;TTP1;alphaTTP OTTHUMP00000226543;alpha-TTP;alpha-tocopherol transfer protein;tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) APPROVED protein-coding ENSG00000137561 12404 02685 277460;600415 REVIEWED 737331 TTR transthyretin This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009] 18 18 q12.1 27425838 27432781 + 29171730 29178987 + 1580523;1580525;1580526;1580527;1580528;1331525;1580863;6480464;6484671;6484113;7240710 15469881;16552785;15995833;15793844;15536615;15118671;21782034 16433699;9771681;10841549;14718574;19493541;19389624;19361464;19328595;19250316;19188365;19180884;19118530;19021760;18930252;18925456;18835560;18830126;18825272;18807501;18688962;18682810;18662699;18655780;18579156;18460047;18448869;18410945;18406527;18326041;18276611;18275060;18257091;18252270;18242169;18237193;18221012;18022643;17980738;17968690;17968687;17957146;17873539;17698792;17683510;17683281;17671371;17630783;17577688;17558848;17503405;17487420;17466336;17431395;17378745;17203960;17196219;17176092;17143887;17116243;17062384;16893521;16892178;16879610;16751191;16732734;16716350;16698124;16690497;16487493;16386248;16335952;16225852;16219761;16204882;16199891;16194875;16189514;16185074;16169070;16159939;16130282;16114899;16079207;16076613;16053476;16011990;15930086;15821170;15736938;15649951;15489334;15214015;15210129;15033978;14981241;14760718;14690414;14673473;14604984;14578606;14534839;14507924;14506715;13367520;12900507;12876326;12874858;12874414;12771253;12697331;12665801;12593674;12566023;12560553;12481032;12477932;12433265;12403615;12354101;12095258;12082059;12039669;11995997;11913969;11853533;11709003;11577236;11478875;11445644;11418763;11243784;11106758;10982792;10882995;10854215;10845569;10842705;10742177;10704770;10694917;10671063;10627502;10627135;10529370;10465115;10071047;10052934;9818883;9818054;9789022;9771673;9307034;9191784;8990019;8960746;8857732;8784093;8692810;8579098;8549676;8428915;8406434;8382610;8352764;8309582;8257997;8218290;8133316;8095302;8095301;8089102;8081397;8038017;8019560;7946531;7923855;7914929;7910950;7850982;7839813;7794243;7754382;7599630;7474944;7417777;7033114;6651852;6583672;6549130;6487335;6300852;6208668;6093805;6087811;4952599;4607556;4328329;4216640;4054629;4044580;3818577;3762958;3760189;3722385;3714052;3675594;3479441;3229002;3135807;3028932;3022108;3022107;3011930;2995367;2990465;2891727;2877582;2693890;2613237;2363717;2360796;2320592;2174830;2161654;2122246;2046936;22169613;22311483;22670059;22439750;22579241;22795285;2015890;1997217;1981182;1979335;1977686;1932142;1877623;1867256;1734866;1666289;1656975;1626570;1602151;1570831;1544214;1520336;1520326;1517749;1436517;1362222;1356051;1351039;1301926;671542;574085;201845;15610856;20211733;19626479;19626480;19913121;20628086;20646067;20660862;20697105;20388560;21179887;16716307;18485534;19401362;19410571;19428025;19477408;19501859;19601795;19602727;19664600;19703508;19781421;19808383;19861125;20132088;20143571;20435197;20462367;986177;20735474;19922456;20373457;20840742;20736409;19922332;20301373;20547140;20659897;21174946;21056899;21461579;21077797;21280184;20964562;21191093;21104416;22968245;21179560;21422279;21880910;21406045;21540676;21600538;23580146;21777382;21208750;21537325;21420946;21439703;23546595;21135536;21358362;21739396;21821015;22045754;22080762;22091638;22102249;21733562;21945954;18624398;21521316;21900206;21843040;22120741;20949480;21397913;21945519;22228785;22362898;21335655;21434877;21714897;22002789;21878437;22027013;22248451;22264585;21841252;22607976;22784244;22948197;23129325;23133543;23414091;23240369;22698061;22889670;23279339;23244293;23438977;15174051;22844532;22928869;22984597;22975527;23185504;22412233;22301727;22826435;22949539;22842046 7276 E9KL36;P02766 ABBA01022510;AC079096;AF162690;AF485253;AF485254;AK312051;AMYH01008924;BC005310;BC020791;BT007189;CA948224;CH471088;CR456908;D00096;DB498675;DQ839490;GU727633;K02091;M10605;M11518;M11714;M11844;M15515;M63285;NG_009490;NM_000371;S63185;S72385;S81436;U19780;X59498 AAA36784;AAA60011;AAA60012;AAA60013;AAA60018;AAA61181;AAA73473;AAA98771;AAB36045;AAD14098;AAD14937;AAD45014;AAH05310;AAH20791;AAL92042;AAL92043;AAP35853;ABI63351;ADU87635;ADZ15764;BAA00059;BAG34987;CAA42087;CAG33189;EAX01264;EAX01265;EAX01266;NP_000362;P02766 Hs.427202 1653254;1684477;1690632;1740905;1740907;1740909;1741131;1741651;1741869;1741873;1741879;1741891;1742143;1742145;1742391;1742959;1744837;1744839;1744841;1769587;2182796 D18S1032;G29143;GDB:176279;GDB:176280;GDB:176281;GDB:177915;GDB:181629;GDB:186202;GDB:186206;GDB:186319;GDB:186556;GDB:192401;GDB:192403;GDB:196602;GDB:217063;GDB:568908;GDB:568915;GDB:568923;RH11645;RH75505;RH76196 CTS;CTS1;HsT2651;PALB;TBPA ATTR;OTTHUMP00000162827;carpal tunnel syndrome 1;prealbumin, amyloidosis type I;thyroxine-binding prealbumin;transthyretin;transthyretin (prealbumin, amyloidosis type I) APPROVED protein-coding ENSG00000118271 12405 01447 105210;115430;145680;176300 REVIEWED 1313976 TTPAL tocopherol (alpha) transfer protein-like 20 20 20 q13.12 39813199 39831891 + 42537961 42556658 + 43104526 43123244 + 6480464 15489334;14702039;12477932;11780052;15761153;19322201;15342556 79183 A6PVK2;B2RA57;Q5QPC2;Q9BTX7 ABBA01052642;AK056178;AK125126;AK307236;AK314045;AL132772;AMYH01011933;BC003071;BP351602;BQ646722;CH471077;CR936621;NM_001039199;NM_001261839;NM_024331;Z97053 AAH03071;BAG36754;CAI56764;EAW75918;EAW75919;NP_001034288;NP_001248768;NP_077307;Q9BTX7 Hs.283869 1658601;1661408;1773878;1855368;1855637;2174647;5022200;5022651;5037552 A007K47;AL023483;D11S2921;D8S2279;L18426;RH16183;STS-AA010225;WI-15802;WIAF-1481 C20orf121;DKFZp686E0870;MGC2470 OTTHUMP00000043614;OTTHUMP00000063220;OTTHUMP00000063221;alpha-tocopherol transfer protein-like protein-coding ENSG00000124120 16114 09837 VALIDATED 1346627 TTTY8 testis-specific transcript, Y-linked 8 (non-protein coding) Y Y Y p11.2 2866095 2868694 + 10138709 10141308 + 9528709 9531308 + 12815422;12477932 84673 AC017019;AF332235;BC026100;NR_001533 Hs.461138;Hs.742605 LINC00130;NCRNA00130;TTY8 miscrna ENSG00000183385 18489 PROVISIONAL 1605120 TTN titin This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012] 2 2 q31 179098962 179380395 - 179390716 179672150 - 6480464;6907045;7240710 9501083;10481174;9804419;7569978;9817758;11846417;9548712;7607248;19608031;19282282;19179657;19134271;19023132;19013176;18948003;18519573;18212128;17920806;17890397;17669421;17574571;17522126;17496052;17444505;17366640;17028145;16949617;16766517;16733766;16713295;16627476;16531234;16465475;16465472;16410549;16407954;16322914;15967462;15849252;15815621;15802564;15632200;15507486;15489334;15345656;15322090;15238456;15211512;14702039;14676215;14593205;14583192;12891679;12865504;12816538;12785101;12785098;12555133;12482578;12477932;12446666;12444090;12432079;12414993;12221049;12202917;12198551;12187564;12145747;11927605;11911777;11851340;11812150;11800567;11799131;11788824;11746675;11717165;11701614;11525170;11448995;11305911;11178895;11084039;10987085;10850961;10462489;10053013;10051295;9782056;9763216;9645487;9642272;9359044;9251807;9185618;8937992;8631348;8604138;8537379;8522604;8351016;8063857;7819249;7613868;7588733;7505783;3397062;2129545;1582406;1429890;11243782;17353931;15385448;17215480;21145461;21319273;19913121;20542041;20628086;20625501;20634290;14630798;16902413;16962094;19003986;19622741;19651040;19679839;20031603;20171214;20479164;6457647;22475360;19911250;20414336;20414364;20489725;20571043;20808825;20926005;20952631;20301498;21050039;21257761;20618440;21728583;21741357;21810661;18310072;20360068;21041693;10625306;22223454;17620599;22266860;22747683;22004752;22178446;22335739;22523089;21906983;22466703;22577215;22577218;22162032;18654987;20301486;12507422;18029348;23455922;23514108;23798571;23283722;23439446;15174051;20467438;21963094;22768802;22238790;22778266;11101506;19850579;22939629;22505724;15582318;23063534 7273 A2TKE4;C9JQJ2;H0Y4J7;H7C0U7;H7C195;H7C1P9;Q7Z3B7;Q8WZB3 ABBA01062246;ABBA01062247;ABBA01062248;AC009948;AC010680;AC023270;AF058332;AF321609;AF525413;AJ277892;AK056602;AK091732;AK092284;AK096883;AK125056;AK129531;AK129919;AL713647;AL832094;AL832351;AL833110;AL833292;AMYH01011305;AMYH01011306;AMYH01011307;AMYH01011308;BC013396;BC017983;BC026297;BC029400;BC030823;BC058824;BC070170;BC107797;BX537998;CH471058;DQ248309;EF212153;EF212154;EF212155;EF212156;EU428784;FJ525883;FJ695199;NG_011618;NM_001256850;NM_001267550;NM_003319;NM_133378;NM_133379;NM_133432;NM_133437;X64697;X64698;X64699;X69490;X83270;X90568;X90569;X92412;X98114;X98115 AAD22603;AAD22604;AAH13396;AAH58824;AAH70170;AAI07798;AAP80791;AAT09768;AAX88844;ABB55264;ABN05229;ABN05230;ABN05231;ABN05232;ACA00206;ACN81321;BAC03850;CAA45938;CAA45939;CAA45940;CAA49245;CAA58243;CAA62188;CAA62189;CAA66795;CAA66796;CAD12455;CAD12456;CAD12457;CAD12458;CAD12459;CAD12460;CAD28458;CAD97954;EAX11013;EAX11014;EAX11015;EAX11016;EAX11017;EAX11018;EAX11019;NP_001243779;NP_001254479;NP_003310;NP_596869;NP_596870;NP_597676;NP_597681;Q8WZ42 Hs.134602 1298264;1338133;1340565;1644257;1663008;1672540;1679229;1684582;1721017;1734752;1734762;1734770;1734774;1734786;1734792;1734798;1734802;1734804;1734806;1734810;1734820;1734838;1734840;1739027;1759205;1790369;1849420;1857542;2115472;2120486;2127269;2127605;2148671;2167790;2185744;2191413;2218124;5109579;5109581;5109587;5125476;5491589;7185301;7186272;7186382 A004O05;A008T22;D2S1518E;D2S1519E;D2S1524E;D2S1532E;D2S1540E;D2S1546E;D2S1550E;D2S1553E;D2S1555E;D2S1560E;D2S1564E;D2S1568E;D2S1570E;D2S1571E;D2S1572E;D2S1574E;D2S1580E;D2S1591E;D2S1593E;D2S1881;D2S2384;D2S2648;D2S324;D2S364;D2S385;G59490;MARC_21540-21541:1033053987:1;MARC_23497-23498:1027358865:1;RH44253;RH48674;RH65366;RH65575;RH65621;RH65766;RH78892;RH91877;RH98821;SHGC-150597;SHGC-62013;TTN-1;TTN_3879 CMD1G;CMH9;CMPD4;CONNECTIN;DKFZp451N061;EOMFC;FLJ26020;FLJ26409;FLJ32040;FLJ34413;FLJ39564;FLJ43066;HMERF;LGMD2J;MYLK5;TMD OTTHUMP00000233809;OTTHUMP00000233810;connectin;rhabdomyosarcoma antigen MU-RMS-40.14;titin APPROVED protein-coding ENSG00000155657 12403 01787 188840;600334;603689;604145;608807;611705;613765 REVIEWED 1320816 TTYH1 tweety homolog 1 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011] 19 19 19 q13.4 51967223 51988650 + 59618447 59639882 + 54926605 54947899 + 1580863;6480464 10950931;18577513;15010458;12477932;8889548;21139048 57348 C9J3K6;E7ET67;F8WBE6;G8JLI0;M0R1D3;Q6ZTE5 AB162930;AB188496;ABBA01068158;AC008746;AF177909;AK126690;AK289468;AK293468;AMYH01009976;BC011347;BC019358;BC065919;BU737336;BX402889;CH471135;CU207370;CU467002;NM_001005367;NM_001201461;NM_020659 AAG02580;AAH11347;AAH19358;BAC86645;BAD20189;BAD37142;BAF82157;BAH11515;EAW72239;EAW72240;EAW72241;EAW72242;EAW72243;EAW72244;EAW72245;EAW72246;NP_001005367;NP_001188390;NP_065710;Q9H313 Hs.268728 1730115;1804886;1805326;1810764;1810834;1810836;1813604;1818226;1824092;1825350;1825836;1827728;1829376;1832120;1832122;1835852;1836186;1838206;1839096;1839652;1840788;1841442;1841764;1844958;1845522;2043396;2043398;2043400;2043402;2043404;2043406;2043408;2043410;2043412;2043414;2043416;2043418;2043420;2043422;2043424;2043426;2043428;2043430;2043432;2043434;2043436;2043438;2043440;2043442;2043444;2043446;2043448;2043450;2043452;2043454;2043456;2043458;2043460;2043462;2043464;2043466;2043468;2043470;2043472;2043474;2043476;2043478;2043480;2043482;2043484;2043486;2043488;2043490;2043492;2043494;2043496;2043498;2043500;2043502;2043504;2043506;2043508;2043510;2043512;2043514;2043516;2043518;2043520;2043522;2043524;2043526;2043528;2043530;2043532;2043534;2043536;2043538;2043540;2043542;2043544;2043546;2043548;2043550;2043552;2043554;2043556;2043558;2043560;2043562;2043564;2043566;2043568;2043570;2043572;2043574;2043576;2043578;2043580;2043582;2043584;2043586;2043588;2043590;2043592;2043594;2043596;2043598;2043600;2043602;2043604;2103946;2103948;2103950;2103952;2103954;2103956;2103958;2103960;2103962;2103964;2103966;2103968;2103970;2103972;2147611;2153087;5014023;5014029;5015619;5016478;5020948;5022463;5037552 A005U08;D11S3114;D13S1553;D13S1639;D19S822E;D3S1673;D8S2279;ECD03378;ECD03610;ECD06380;ECD06415;ECD06416;ECD07825;ECD10170;ECD13142;ECD13781;ECD14026;ECD14986;ECD15819;ECD17198;ECD17199;ECD19087;ECD19254;ECD20275;ECD20727;ECD21009;ECD21585;ECD21917;ECD22081;ECD23695;ECD23979;G35510;GDB:434012;REN92748;REN92749;REN92750;REN92751;REN92752;REN92753;REN92754;REN92755;REN92756;REN92757;REN92758;REN92759;REN92760;REN92761;REN92762;REN92763;REN92764;REN92765;REN92766;REN92767;REN92768;REN92769;REN92770;REN92771;REN92772;REN92773;REN92774;REN92775;REN92776;REN92777;REN92778;REN92779;REN92780;REN92781;REN92782;REN92783;REN92784;REN92785;REN92786;REN92787;REN92788;REN92789;REN92790;REN92791;REN92792;REN92793;REN92794;REN92795;REN92796;REN92797;REN92798;REN92799;REN92800;REN92801;REN92802;REN92803;REN92804;REN92805;REN92806;REN92807;REN92808;REN92809;REN92810;REN92811;REN92812;REN92813;REN92814;REN92815;REN92816;REN92817;REN92818;REN92819;REN92820;REN92821;REN92822;REN92823;REN92824;REN92825;REN92826;REN92827;REN92828;REN92829;REN92830;REN92831;REN92832;REN92833;REN92834;REN92835;REN92836;REN92837;REN92838;REN92839;REN92840;REN92841;REN92842;REN92843;REN92844;REN92845;REN92846;REN92847;REN92848;REN92849;REN92850;REN92851;REN92852;RH47298;stSG606048;stSG606049;stSG606050;stSG606052;stSG606053;stSG606054;stSG606055;stSG606056;stSG606057;stSG606058;stSG606059;stSG606060;stSG606061;stSG606062 OTTHUMP00000068178;OTTHUMP00000068179;OTTHUMP00000068180;hTTY1;protein tweety homolog 1 APPROVED protein-coding ENSG00000167614 13476 12043 605784 REVIEWED 1354269 TTYH2 tweety homolog 2 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.1 68796241 68850209 + 69721291 69769754 + 72209696 72258159 + 6480464 18577513;18260827;17569141;15010458;14739304;14702039;12477932;11597145;20098747;21139048 94015 B4DKD1;J3KRY9;J3KSH7;Q8N3U8;Q9BSA4 ABBA01028845;ABBA01028846;AC100786;AF319952;AK058197;AK091085;AK126955;AK296511;AK315163;AL831858;AMYH01008623;BC004233;BC005168;BC107492;BC107602;BF529231;BX647912;CH471099;NM_032646;NM_052869 AAH05168;AAI07493;AAI07603;AAL16784;BAC03579;BAG37607;BAG54409;BAG59143;CAD38555;CAH10576;EAW89142;EAW89143;NP_116035;NP_443101;Q9BSA4 Hs.27935 1335124;1336910;1337059;1648965;1685964;1766447;1780056 D17S1602;D17S597;D17S929;G30991;RH94317;SHGC-149778;SHGC-154305 C17orf29;MGC126172;MGC4837 OTTHUMP00000231711;OTTHUMP00000231712;OTTHUMP00000231713;hTTY2;protein tweety homolog 2 APPROVED protein-coding ENSG00000141540 13877 16394 608855 REVIEWED 1319948 TTYH3 tweety homolog 3 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008] 7 7 7 p22 2640452 2673317 + 2638129 2670962 + 2671603 2704436 + 6480464 15010458;18577513;14702039;12477932;11214970;21139048;21890473;21906983;19322201;18624398;21987572;23000965;23128233;22505724 80727 A8MXJ9;H7C3T6;Q8WYU9;Q9C0H2 AACC02000053;AB051478;AB162931;ABBA01039385;AC006028;AC073462;AF318350;AK074158;AK096851;AK124608;AL522452;AL833825;AMYH01016976;BC041603;BC069027;BC131824;BC152447;CH236953;CH471144;NM_025250 AAI31825;AAI52448;AAL55857;BAB21782;BAB84984;BAC85898;BAD20190;CAH10666;EAL23958;EAW87265;EAW87266;EAW87267;EAW87268;NP_079526;Q9C0H2 Hs.440899 2117301;2184626 D7S2636;RH12392 KIAA1691 OTTHUMP00000201106;OTTHUMP00000201107;OTTHUMP00000201108;hTTY3;protein tweety homolog 3 APPROVED protein-coding ENSG00000136295 22222 12333 608919 REVIEWED 1343505 TUB tubby bipartite transcription factor This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 11 11 p15.5 8016756 8084228 + 8060180 8127654 + 1625564;1625565;1580863;6480464 8772727;8612280 11000483;19077438;19058789;18183286;17955208;17498679;16443771;15489334;12477932;11801719;11375483;10591637;10455176;9096357;1358794;19913121;20628086;18029348;19486527;19837063;20080650;20935630;20978472;23000965;22632162 7275 E9PQR4;P50607 AB209618;ABBA01028684;ABBA01028685;ABBA01028686;ABBA01028687;AC116456;AJ277662;AJ296302;AK293528;AMYH01003373;AMYH01003374;BC036400;BC075031;BC075032;BM992151;CH471064;NG_029912;NM_003320;NM_177972;U54644;U82467 AAB53494;AAB53699;AAH75031;AAH75032;ABZ92240;BAD92855;BAG57010;CAC14586;CAC39298;EAW68632;EAW68633;EAW68634;NP_003311;NP_813977;P50607 Hs.568986;Hs.733193 1777207;1793266;1793268;1794056;2162565 G02283;PMC20333P1;PMC20333P2;PMC310777P16;RH36564 rd5 OTTHUMP00000230766;OTTHUMP00000230767;OTTHUMP00000230768;tubby homolog;tubby homologue;tubby protein homolog APPROVED protein-coding ENSG00000166402 12406 03121 601197 REVIEWED 1606186 TUBA3D tubulin, alpha 3d This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011] 2 2 q21.1 131950136 131956977 + 132233580 132240507 + 6480464;6907045 21145461;16189514;14702039;12477932;3785200;15851850;17207965;23314748;16344560;21906983;21942715;19322201;18029348;21167302;22505724 113457 Q13748;Q1ZYQ1 ABBA01028233;AC073869;AK093116;AK292253;AMYH01011102;AW966211;BC057810;DB051220;K03460;NG_030320;NM_080386 AAA36785;AAH57810;ADQ33041;BAF84942;NP_525125;Q13748 Hs.503749 1744723;2106487;5024541 D1S3688;GDB:555004;H2-ALPHA__6686 H2-ALPHA;TUBA3C OTTHUMP00000204183;alpha-tubulin 2;alpha-tubulin 3C/D;alpha-tubulin isotype H2-alpha;tubulin alpha-2 chain;tubulin alpha-3C/D chain APPROVED protein-coding ENSG00000075886 24071 17085 REVIEWED 6767065 TUBA3GP tubulin, alpha 3g, pseudogene 22 q11.21 21419756 21424462 + 645348 ABBA01015432;AC002472;AMYH01012541;NG_006439 1716383;1761305 RH121372;SHGC-145314 pseudo 44096 INFERRED 1605119 TUBA3C tubulin, alpha 3c Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008] 13 13 q11 18645916 18653936 - 19747910 19755992 - 6480464;6907045 16189514;15489334;15324660;15057823;14760703;12486001;12477932;11953448;11826099;11535601;11278332;11163133;11146551;21145461;17620599;11121746;11082048;10908577;10840040;10036193;9722999;9465305;9372968;8566014;8530067;7651436;15103018;16148047;15331610;16327313;15698476;15691386;14583623;16344560;22581228;20797700;19156129;19287380;20972266;21942715;17360745;18400243;21167302;22505724 7278 Q13748;Q1ZYQ1 AA412719;ABBA01068550;AF005392;AL139327;AMYH01004934;BC011721;CH471075;DB026664;DB524026;DQ422808;L11645;NM_006001 AAA35521;AAC39578;AAH11721;AAX29832;ABD72607;ABM83795;ABM86864;EAX08210;EAX08211;NP_005992;Q13748 Hs.349695 1744723;2108615;5024541 D1S3688;GDB:555004;TUBA2_8697 TUBA2;TUBA3D;bA408E5.3 OTTHUMP00000018071;alpha-tubulin 2;alpha-tubulin 3C/D;tubulin alpha-2 chain;tubulin alpha-3C/D chain;tubulin, alpha 2 APPROVED protein-coding 12408 03958 602528 REVIEWED 1606486 TUBA1C tubulin, alpha 1c 12 12 12 q13.12 48451683 48459932 + 47945132 47953380 + 49658865 49667113 + 6480464;6907045 17373842;17081983;16236267;15592455;15489334;12486001;12477932;12090300;10908577;8125298;7821789;1602151;16148047;15103018;15331610;16327313;15698476;15691386;21145461;21319273;16226712;22863883;22939629;16196087;16944923;20618440;20473970;21628590;21965743;17955473;18781797;19287380;19596686;21987572;22108332;20972266;21139048;21906983;17620599;22586326;21252943;22536838;18029348;15576338;18214993;17360745;18400243;18613978;19380743;21167302;22174317;22337587;22505724;22797925 84790 F5H5D3;F8VRK1;F8VS66;H0YHV2;Q9BQE3 ABBA01031515;AC125611;AK223024;AK293589;AMYH01004441;BC004949;BC005946;BC011790;BC019298;BC021088;BC033064;BC051297;BC063036;CH471111;D28390;NM_032704 AAH04949;AAH05946;AAH11790;AAH19298;AAH21088;AAH33064;AAH51297;AAH63036;ABM83912;ABM87234;BAA05756;BAD96744;BAH11541;EAW58057;NP_116093;Q9BQE3 Hs.652390 2114180;5015473;5106678 A002J21;D22S1042;RH48063 MGC10851;MGC14580;TUBA6;bcm948 OTTHUMP00000241322;OTTHUMP00000241326;OTTHUMP00000241327;alpha-tubulin 6;tubulin alpha-1C chain;tubulin alpha-6 chain;tubulin, alpha 6 protein-coding ENSG00000167553 20768 06747 PROVISIONAL 1607082 TUBA1A tubulin, alpha 1a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] 12 12 q13.12 47864849 47869128 - 49578578 49583107 - 6480464;6907045;7240710 19405953;19251251;18954413;18728072;18669490;18199681;17914564;17584854;17218254;17081983;16941085;15952740;15489334;15121898;14583623;12486001;12477932;12429849;12417528;12052866;11964161;11953448;11842207;11687285;11504633;11163133;11146551;11121746;10908577;10862713;9722999;9553134;9384577;7651436;6646120;3839072;16148047;15103018;15331610;16327313;15698476;15691386;10772929;12639940;12621024;14697242;14594945;14506234;14634002;16945107;20510079;20603323;11076968;12221128;12852856;16462731;16799092;19615732;7790358;16714300;21094644;20466733;12024216;12486003;12606581;14532270;22939629;21403111;16196087;17573780;21357695;12090300;16306228;19167051;20691906;21151833;21778226;12771190;17620599;21146485;22633752;23398456;23463506;23667531;23703321;16455083;19338310;20371770;21278340;15878338;18250096;20682791;21151955;22565157;10191277;12639963;12716939;12777385;15161933;15303970;15556606;17461779;17955473;18781797;19850743;20639865;21081666;21900206;21942715;21987572;22178446;8530437;21110914;22264709;17139257;18341635;21906983;22133677;16344560;18222923;21145461;22565168;18029348;12510195;14970193;15576338;20810659;2777757;15492215;17266347;17868192;17979178;19805454;20972266;21139048;21360678;21525035;21565611;21890473;21963094;21988832;22053931;22810585;23106098;23184937;23246001;23361065;22863883;7744867;12417652;17360745;18400243;19380743;19961433;21159966;21167302;22174317;22303461;22505724 7846 F8VQQ4;F8VRZ4;F8VXZ7;F8W0F6;Q71U36 ABBA01031512;AC010173;AF141347;AF141348;AK057842;AK289483;AK297775;AK298838;AMYH01004440;AU136397;BC006468;BC050637;BC057823;CH471111;DA117857;DC340080;K00557;NG_008966;NM_001270399;NM_001270400;NM_006009;X01703 AAA91575;AAD33871;AAD33872;AAH06468;AAH50637;ABM92196;ABW03282;BAF82172;BAG60120;BAG60966;CAA25855;EAW58052;EAW58053;EAW58054;EAW58055;NP_001257328;NP_001257329;NP_006000;Q71U36 Hs.654422 1648798;1794982;5015473;5106678 D22S1042;PMC86714P2;RH48063;WI-7090 B-ALPHA-1;FLJ25113;LIS3;TUBA3 OTTHUMP00000241384;OTTHUMP00000241386;OTTHUMP00000241388;OTTHUMP00000241389;OTTHUMP00000241390;OTTHUMP00000241391;OTTHUMP00000241394;alpha-tubulin 3;hum-a-tub1;hum-a-tub2;tubulin B-alpha-1;tubulin alpha-1A chain;tubulin alpha-3 chain;tubulin, alpha 3;tubulin, alpha, brain-specific APPROVED protein-coding ENSG00000167552 20766 03959 602529;611603 REVIEWED 7174870 TUBA8P1 tubulin, alpha 8 pseudogene 1 3 43728774 43729642 - 100419007 ABBA01024758;AC105903;AMYH01013118;NG_025571 pseudo 44568 INFERRED 1603700 TUBA1B tubulin, alpha 1b 12 12 q13.12 47807832 47811571 - 49521565 49525304 - 6480464;6907045 19409876;19405953;19215229;19174478;18790094;18354170;18195004;17628775;15592455;15489334;14702039;12750376;12486001;12477932;12087096;12054644;11953448;11826099;11580271;11535601;11532003;11146551;11082048;10908577;10840040;9372968;8895530;8619814;8098743;8097117;7651436;7592789;6646120;16148047;15103018;15331610;15698476;15691386;12481031;15806149;14697242;11698390;12235145;12606581;15032605;15556606;16824193;18806873;19996280;20162433;20204303;20381070;19394292;15084271;23190606;20237820;12090300;15129282;16216085;17893145;21163940;22939629;20972266;21890473;21906983;21110914;17461779;18457437;18781797;21900206;22079093;22108332;22266860;18029348;19738201;19805454;20639865;21139048;21565611;21881916;21963094;21987572;21988832;22053931;22963397;23235160;23246001;17725712;17360745;18613978;19380743;21167302;22174317;22505724;22797925;22944692 10376 F8VRK0;F8VU66;F8VVB9;F8VWV9;F8VX09;P68363 ABBA01031508;AC011603;AF081484;AK026516;AK026632;AK056693;AK057773;AK094717;AK098357;AK098635;AK098771;AK289354;AK293337;AMYH01004439;BC000696;BC001128;BC006379;BC006481;BC008659;BC009314;BC009509;BC009512;BC009513;BC010494;BC011572;BC015883;BC017004;BC018948;BC021564;BC030820;BC071904;BF979331;CH471111;DQ400107;K00558;NM_006082;S62639;Z36832 AAA91576;AAC31959;AAH00696;AAH01128;AAH06379;AAH06481;AAH08659;AAH09314;AAH09509;AAH09512;AAH09513;AAH10494;AAH11572;AAH15883;AAH17004;AAH21564;AAH30820;AAH71904;ABD60581;ABM82424;ABM85615;BAF82043;BAG51785;BAG52918;BAG56853;EAW58048;EAW58049;NP_006073;P68363 Hs.524390 1663981;1722509;1847490;2179971;5015473;5106678 D11S4432;D12S1921;D22S1042;G60179;RH48063;STS-D51277 K-ALPHA-1 OTTHUMP00000243741;OTTHUMP00000243743;OTTHUMP00000243744;alpha tubulin;alpha-tubulin ubiquitous;tubulin K-alpha-1;tubulin alpha-1B chain;tubulin alpha-ubiquitous chain;tubulin, alpha, ubiquitous protein-coding ENSG00000123416 18809 03960 602530 VALIDATED 1344639 TUBAL1 tubulin, alpha-like 1 2444926 7279 12409 1604550 TUBA3E tubulin, alpha 3e 2 2 2 q21.1 124224106 124230823 - 130665788 130672504 - 130949318 130956034 - 6480464;6907045 21110914;12477932;17207965;20360068;21942715;22178446;21906983;18029348;21167302;22505724;20462248 112714 Q6PEY2 AA397983;ABBA01017943;ABBA01017944;ABBA01017945;AC018804;AK131043;AMYH01011051;BC057811;HC007370;NM_207312 AAH57811;ADQ32962;CBH19490;NP_997195;Q6PEY2 Hs.433336 1744723;2106487 GDB:555004;H2-ALPHA__6686 OTTHUMP00000162394;alpha-tubulin 3E;tubulin alpha-3E chain protein-coding ENSG00000152086 20765 17288 VALIDATED 1342822 TUBAP tubulin, alpha pseudogene 21 21 21 q21.1 9962233 9963963 - 23701583 23703513 - 24779812 24781542 - 10830953;20125088 54016 ABBA01057189;AMYH01012170;AP000459;NG_000900 pseudo 12411 INFERRED 1347988 TUBAP2 tubulin, alpha pseudogene 2 11 q14.3 90015728 90017336 + 22108332 399942;79259 ABBA01040071;AMYH01003936;AP002364;NG_029287 1663981;1722509 D12S1921;G60179 pseudo 14531 INFERRED 1602661 TUBA3FP tubulin, alpha 3f, pseudogene 22 22 22 q11.21 4853795 4859879 - 19692492 19698576 - 21362492 21368576 - 15146197;14702039;12477932;21906983 113691 ABBA01015432;ABBA01015433;AC002472;AK057257;AK315686;AMYH01012540;BC009991;BI668929;CH471176;CN368433;NR_003608 EAX02915;EAX02916 Hs.585006 1674448;2109507;5021872;5022651;5037552 D11S2921;D22S548;D8S2279;MGC16703__7679;sY3084 APPROVED pseudo ENSG00000161149 24067 17517 VALIDATED 2902967 TUBB1P1 tubulin, beta 1 class VI pseudogene 1 Y Y q11.222 19007855 19010690 + 20548467 20551302 + 11731935;12815422;9847074 349448 AC007241;AF355114;NG_004636 APPROVED pseudo 23982 VALIDATED 3566506 TUBB1P2 tubulin, beta 1 class VI pseudogene 2 Y Y q11.221 18137870 18140705 - 19628476 19631311 - 12815422;9847074 140004 AC015978;NG_004636 APPROVED pseudo 23981 VALIDATED 1345961 TUBA4B tubulin, alpha 4b (pseudogene) 2 2 2 q35 213887672 213906619 + 219826209 219845154 + 220117965 220136910 + 1580863;6480464 14702039;12486001;12477932;10908577;3785200;21145461;22863883;21110914;22360420;21628590;19380743 80086 Q9H853 ABBA01023843;ABBA01023844;ABBA01023845;AC068946;AK024002;AMYH01011506;AMYH01011507;BC121126;BC121127;CH471063;NR_003063 BAB14767;EAW70720;EAW70721;Q9H853 Hs.664469 1741511;2107727;5023351 GDB:181260;RH78682;TUBA4__5160 FLJ13940;TUBA4 putative tubulin-like protein alpha-4B;tubulin, alpha 4 pseudo ENSG00000243910 18637 18242 PROVISIONAL 1313230 TUBAL3 tubulin, alpha-like 3 10 10 10 p15.1 5365751 5377481 - 5425061 5436795 - 5435061 5446793 - 1580863;6480464;6907045 19240061;12477932;16344560;21906983;19380743;22505724 79861 A6NHL2 ABBA01034782;AK025318;AK296616;AL683826;AMYH01002001;BC098247;BC099716;BC105634;CH471072;DA890426;NM_001171864;NM_024803 A6NHL2;AAH98247;AAH99716;AAI05635;BAB15110;BAG59224;EAW86447;NP_001165335;NP_079079 Hs.163079 1660910;1717447;1721727;2168101 G59728;RH122226;WI-17065;Z94585 FLJ21665;MGC119347;MGC119349 OTTHUMP00000019000;OTTHUMP00000216159;tubulin alpha chain-like 3 protein-coding ENSG00000178462 23534 08640 VALIDATED 7207640 TUBB2BP1 tubulin, beta 2B class IIb pseudogene 1 6 p25.2 3177273 3179949 - 100132153 ABBA01048620;AL031963;AMYH01016030;NG_022291 pseudo 42332 INFERRED 1345439 TUBB1 tubulin, beta 1 class VI This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010] 20 20 q13.32 57027704 57035104 + 57594309 57601709 + 1580863;6480464;6907045;7240710 15691386;19388931;19132255;19074767;18849486;17993481;17488662;16095531;15956286;15489334;15315966;15304323;12665801;12486001;12477932;11790298;11780052;10908577;16526095;15331610;15698476;21145461;14583623;20532885;20103599;18806873;19996274;3782288;17707232;20191564;21309084;16216085;22939629;21384078;12840015;21110914;22360420;20473970;21628590;12777385;15556606;20639865;22423221;21906983;18029348;22505724;22805305;22139419 81027 Q9H4B7 ABBA01005967;AJ292757;AL109840;AMYH01012024;BC033679;BI821931;CH471077;NG_023424;NM_030773 AAH33679;ADZ15920;CAC16605;EAW75447;NP_110400;Q9H4B7 Hs.303023 1660947;1663102;1664901;1669110;2139075 RH17503;SGC33843;SHGC-33555;STS-H96735;STS-T99531 dJ543J19.4 OTTHUMP00000031411;beta tubulin 1, class VI;class VI beta-tubulin;tubulin beta-1 chain APPROVED protein-coding ENSG00000101162 16257 18243 612901;613112 REVIEWED 7207542 TUBB3P1 tubulin, beta 3 class III pseudogene 1 6 q15 90011445 90013027 + 100288513 ABBA01040529;AL121833;AMYH01016501;NG_022360 pseudo 42339 INFERRED 7207543 TUBB3P2 tubulin, beta 3 class III pseudogene 2 7 q33 134419693 134419831 - 12690205 100130187 AACC02000025;ABBA01001111;AC083874;AMYH01017954;CH236950;NG_032092 EAL24066 pseudo 42181 INFERRED 1352677 TUBA8 tubulin, alpha 8 This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] 22 22 q11.1 16973559 16994498 + 18593453 18614498 + 1580863;6480464;6907045;7240710 16380905;15489334;15461802;14702039;12486001;12477932;11953448;11146551;10908577;10840040;10772959;10591208;9885248;7651436;16148047;15103018;15331610;16327313;15698476;15691386;19913121;20628086;17643375;19896110;20466094;16344560;21872825;19156129;21906983;20639865;20972266;21139048;21890473;21963094;21987572;22053931;22505724;23246001;17620599;19380743;21167302;22174317 51807 C9J2C0;C9K0S6;Q9NY65 ABBA01001420;ABBA01001421;AC008079;AC016027;AJ245922;AK056947;AK315316;AMYH01012441;BC074827;BC104845;BX537702;CH471193;CR456600;DA059342;NG_023429;NM_001193414;NM_018943 AAH74827;AAI04846;BAG37719;BAG51831;CAB88036;CAD97815;CAG30486;CAK54631;CAK54930;EAW57788;EAW57789;NP_001180343;NP_061816;Q9NY65 Hs.137400 1668054;1688376;2107729;2112406 D22S1608;D22S981E;RH48663;TUBA8__5161 TUBAL2 OTTHUMP00000196216;OTTHUMP00000196217;OTTHUMP00000196246;alpha-tubulin 8;tubulin alpha chain-like 2;tubulin alpha-8 chain;tubulin, alpha-like 2 APPROVED protein-coding ENSG00000183785 12410 05763 605742;613180 REVIEWED 7207629 TUBB4AP1 tubulin, beta 4A class IVa pseudogene 1 X q25 122695493 122696823 + 16489141 402422 ABBA01036344;ABBA01036345;AL030996;AMYH01022935;NG_022697 pseudo 42340 INFERRED 1344170 TUBA4A tubulin, alpha 4a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 q35 219823245 219826882 - 220115001 220118638 - 6480464;6907045 14697242;18391951;16257120;16169070;16039987;15934946;15659558;15592455;15489334;15345747;15324660;15184364;15129282;14702039;14634002;14594945;12749852;12716939;12639963;12639940;12620231;12486001;12482968;12477932;12377379;12353262;12134159;12087096;12054644;12052837;12024216;11964161;11953448;11942621;11563969;11278895;11163133;11146551;11121746;10942575;10908577;10191277;10037711;9922135;9885248;9722999;9593747;9265649;8856662;8631991;8617742;8566014;8530437;8325901;8294455;7878030;7744867;7651436;3839072;3785200;3029670;1657993;15103018;16148047;15331610;21145461;16327313;15698476;15691386;12963086;11166179;20546612;11076968;12221128;12852856;14630798;16462731;16799092;6457647;7790358;20668689;16159877;20686780;17620599;22863883;22939629;22360420;17314511;19156129;21800051;19850743;20972266;21139048;21890473;21906983;21942715;21987572;20473970;21628590;18029348;17360745;18400243;18613978;21167302;22174317;22505724;15342556;20639865;21080425;21150319;21525035;21565611;21963094;22053931;23000965 7277 A8MUB1;C9JDL2;C9JDS9;C9JEV8;C9JJQ8;C9JQ00;P68366 ABBA01023845;AC068946;AK054731;AK299958;AMYH01011506;AMYH01011507;AY895018;BC009238;BC018854;BP346611;BT006731;CH471063;NG_029913;NM_001278552;NM_006000;X06956 AAH09238;AAP35377;AAW65371;ABM84750;BAG51418;BAH13182;CAA30026;EAW70718;EAW70719;NP_001265481;NP_005991;P68366 Hs.75318 1741511;1797006;5023351 GDB:181260;RH78682;TUBA1__1214 FLJ30169;H2-ALPHA;TUBA1 OTTHUMP00000164167;OTTHUMP00000165869;OTTHUMP00000165870;OTTHUMP00000165871;OTTHUMP00000205871;alpha-tubulin 1;testis-specific alpha-tubulin;tubulin H2-alpha;tubulin alpha-1 chain;tubulin alpha-4A chain;tubulin, alpha 1 (testis specific) APPROVED protein-coding 12407 01851 191110 REVIEWED 7207550 TUBB4BP2 tubulin, beta 4B class IVb pseudogene 2 9 34109172 34109965 - 100418974 ABBA01065022;AL354989;AMYH01019332;NG_023799 pseudo 42183 INFERRED 7207750 TUBB4BP6 tubulin, beta 4B class IVb pseudogene 6 9 121526157 121526623 + 100996306 ABBA01016264;AL589703;AMYH01021683 pseudo 42336 MODEL 7207590 TUBB4BP7 tubulin, beta 4B class IVb pseudogene 7 6 q25.2 153219051 153220608 + 442271 ABBA01025614;AL133269;AMYH01016749;NG_022377 pseudo 42337 INFERRED 1606428 TUBB tubulin, beta class I 6 6 p21.33 30796136 30801178 + 30688157 30693199 + 6480464;6907045 11120798;16130169;19405953;19034380;17869412;17569113;17488662;17389232;16941085;16702430;16380805;16371510;15592455;15489334;15120663;15003198;12893435;12826311;12477932;12209587;11504633;9110174;8619474;8270253;6865944;6688039;3782288;16526095;19019082;9553134;15331635;11590136;12639940;12620231;12872123;12966166;14594945;14603253;12482968;19503101;21145461;20677014;10022909;10191277;10722852;11076968;11278895;11870213;11964161;12134159;12221128;12353262;12606581;12639963;12716939;12852856;12855424;12884273;12963728;14634002;14760703;15121898;15188402;15304323;15324660;15556606;1629950;16462731;16824193;19041431;19851445;7556643;7744867;7790358;8103323;8530437;8700896;9581762;9629920;9886087;9922135;9973324;16455083;21146485;23246003;23398456;19394292;3007184;16751776;20391533;20462248;23077236;23184937;23190606;23382044;21110914;12090300;14532270;15129282;20797700;21832049;22863883;22939629;23128140;22360420;15047060;16944923;19167051;20691906;21778226;16196087;19567321;21890626;21327297;15161933;17955473;19850743;20067570;21081666;21653684;17043677;18457437;18781797;20639865;21825151;21987572;22178446;10220577;15878338;19322201;20682791;21044950;21151955;21575865;22779921;17266347;19738201;19805454;21360678;21382349;21525035;21642987;21881916;22304920;22810585;22963397;23000965;23246001;12938929;20972266;21139048;21890473;21906983;21963094;12771190;17620599;22536838;18029348;15576338;17373842;18214993;19836239;23463506;23703321;11698390;12417652;16027165;17360745;19380743;19545277;19961433;20856200;22053931;22174317;22505724;22797925;23061666;9880513;20371770;23285209;23428871;23455922;23157319 203068 E9PBJ4;P07437;Q5JP53;Q5ST81;Q5SU16 AB062393;AB088100;AB103606;AB202098;ABBA01038054;AF070561;AF070593;AF070600;AF141349;AK098772;AK297489;AK297638;AK298889;AK302314;AK303227;AK309684;AK316265;AK316316;AL662797;AL662848;AL845353;AMYH01016207;BA000025;BC001002;BC001896;BC001938;BC002347;BC005838;BC007605;BC013374;BC015889;BC019924;BC020946;BC021909;BC029323;BC062532;BC070326;BC103746;BX248307;BX927283;CH471081;CR759873;CR788240;CR936878;DQ457058;EF036509;J00314;NM_178014;V00599 AAB59507;AAC28642;AAC28650;AAC28654;AAD33873;AAH01896;AAH01938;AAH02347;AAH05838;AAH07605;AAH13374;AAH15889;AAH19924;AAH20946;AAH21909;AAH62532;AAH70326;AAI03747;ABE96641;ABM82668;ABM82754;ABM85846;ABO65095;BAB63321;BAB93480;BAC54932;BAE78618;BAF31267;BAG59907;BAG60010;BAG61001;BAG63652;BAG64314;BAH14636;BAH14687;CAA23844;EAX03322;EAX03323;EAX03324;NP_821133;P07437 Hs.636480 M40;MGC117247;MGC16435;OK/SW-cl.56;TUBB1;TUBB5 OTTHUMP00000029069;OTTHUMP00000164860;beta 5-tubulin;beta Ib tubulin;beta-4 tubulin;beta1-tubulin;class I beta-tubulin;tubulin beta chain;tubulin beta polypeptide;tubulin beta-1 chain;tubulin beta-5 chain;tubulin, beta polypeptide APPROVED protein-coding ENSG00000196230 20778 191130 PROVISIONAL 7207587 TUBB6P1 tubulin, beta 6 class V pseudogene 1 1 38849519 38850102 - 100418964 ABBA01023246;AL513479;AMYH01000511;NG_026927 pseudo 42342 INFERRED 1347978 TUBB2A tubulin, beta 2A class IIa 6 6 p25 3098899 3102782 - 3153900 3157783 - 1580863;6480464;6907045 12134159;12064592;12052837;11964161;11870213;11749959;11532003;11278895;11120798;10908577;10722852;10191277;10022909;9973324;9922135;9886087;9629920;9581762;9553134;8856662;8706133;8700896;8530437;8462682;8325901;8270253;8103323;7878030;7744867;7556643;6688039;3782288;1629950;1602151;16526095;15331610;15698476;15691386;12963086;15121898;15082789;14760703;14634002;14603253;14594945;14583623;14574404;12966166;12963728;12884273;12872123;12861402;12855424;12840015;12716939;12639963;12639940;12486001;12482968;12477932;12353262;12214803;12211114;12209967;17373842;15548702;15489334;15331635;15324660;15304323;15188402;22449234;21145461;21319273;16169070;19019082;20381070;12024216;17620599;17573780;22863883;20391533;19805354;22718863;22939629;22360420;19167051;20618440;16196087;10547355;17043677;20639865;20972266;21139048;21890473;21900206;21906983;22079093;22108332;20473970;21044950;21628590;22180309;18029348;17725712;19805454;21525035;21565611;21963094;21987572;22053931;22623428;23000965;23349634;17360745;19380743;19454010;22174317;22505724 7280 Q13885 ABBA01048621;AK312621;AL031963;AL038778;AMYH01016029;AY159127;BC001194;BC018780;BC127873;BC141924;BC141925;CH471087;CR541958;NM_001069;X79535 AAH01194;AAH18780;AAI41925;AAI41926;AAN85571;ABM83269;ABM86644;BAG35507;CAA56071;CAG46756;EAW55124;NP_001060;Q13885 Hs.654543 1649285;1729103;1851933;2139392;2139394 A002B22;D6S1874;G19889;RH18135;Tubb2 TUBB;TUBB2;dJ40E16.7 OTTHUMP00000015956;class IIa beta-tubulin;tubulin beta class IIa;tubulin beta-2A chain;tubulin, beta 2;tubulin, beta polypeptide 2 APPROVED protein-coding ENSG00000137267 12412 01852 615101 VALIDATED 1602407 TUBB2B tubulin, beta 2B class IIb The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010] 6 6 6 p25 4453394 4456867 - 3169510 3172870 - 3224495 3227968 - 6480464;6907045;7240710 19165527;18613117;15489334;14574404;12533264;12477932;9110174;8619474;6688039;16526095;10772929;19465910;19996274;17207965;12606581;22939629;20391533;20462248;22333901;23001566;21078624;21900206;21110914;21139048;21890473;21906983;18029348;22591407;21145461;20639865;20972266;21360678;21525035;21963094;21987572;22053931;22623428;23000965;23349634;23361065;19380743;22174317;22505724 347733 Q9BVA1;Q9UGA2 ABBA01048619;AF035316;AK289433;AK297568;AK308806;AL050056;AL445309;AMYH01016030;BC001352;BC063610;BC127872;BC127874;BG056085;BT019930;BX419454;CH471087;CR456788;NG_016715;NM_178012 AAB88188;AAH01352;AAH63610;AAI27873;AAI27875;AAV38733;ADQ32387;BAF82122;BAH12617;CAB43252;CAG33069;EAW55125;EAW55126;EAW55127;EAW55128;NP_821080;Q9BVA1 Hs.300701 1644536;1794476 D6S1785;PMC314434P1 DKFZp566F223;FLJ98847;MGC8685;PMGYSA;RP11-506K6.1;TUBB-PARALOG;bA506K6.1 OTTHUMP00000015964;class II beta-tubulin isotype;class IIb beta-tubulin;tubulin beta-2B chain;tubulin, beta polypeptide paralog APPROVED protein-coding ENSG00000137285 30829 14707 610031;612850 REVIEWED 7207647 TUBB8P1 tubulin beta 8 class VIII pseudogene 1 9 21811650 21812346 - 100418937 ABBA01065175;AL359922;AMYH01019275;NG_023793;NG_032650 1703802;1710004 SHGC-78937;SHGC-82272 pseudo 42182 INFERRED 7207642 TUBB8P10 tubulin, beta 8 class VIII pseudogene 10 1 q42.13 227680552 227682527 - 391171 ABBA01009612;AL451054;NG_022755 1781560 SHGC-145612 pseudo 42348 INFERRED 7207540 TUBB8P11 tubulin, beta 8 class VIII pseudogene 11 1 p36.33 808671 809894 + 388579 ABBA01016000;AL669831;AMYH01000100;NG_005336 pseudo 32337 INFERRED 7207648 TUBB8P3 tubulin beta 8 class VIII pseudogene 3 4 q25 112998755 112999532 + 132719 ABBA01063812;AC093663;AMYH01014468;NG_022071 pseudo 42338 INFERRED 7207588 TUBB8P4 tubulin, beta 8 class VIII pseudogene 4 12 p11.1 34317708 34319889 - 11731935 260338 ABBA01031683;AC140847;AF355111;AMYH01004380;NG_002343 pseudo 42185 INFERRED 7207531 TUBB8P5 tubulin, beta 8 class VIII pseudogene 5 12 p11 38595369 38597732 + 11731935 121014 ABBA01049519;AC117372;AF355113;AMYH01004385;NG_002327 pseudo 42186 INFERRED 7207707 TUBB8P6 tubulin, beta 8 class VIII pseudogene 6 1 q43 242220387 242223748 + 11731935 200149 ABBA01033270;AF355107;AMYH01001877;BX571673;NG_002335 pseudo 42343 INFERRED 7207586 TUBB8P7 tubulin, beta 8 class VIII pseudogene 7 16 q24.3 90160431 90162597 + 11731935 197331 ABBA01014112;AC133919;AF355125;AMYH01007942;NG_002334 pseudo 42345 INFERRED 7207544 TUBB8P8 tubulin, beta 8 class VIII pseudogene 8 3 q29 197844118 197847649 + 728247 ABBA01007555;AC073135 pseudo 42346 MODEL 7207539 TUBB8P9 tubulin, beta 8 class VIII pseudogene 9 1 q42.13 227693883 227696170 + 11731935 255208 ABBA01009612;AF355105;AL451054;AMYH01001781;AMYH01001782;AMYH01001783;NG_002338 1781560 SHGC-145612 pseudo 42347 INFERRED 1343237 TUBBP1 tubulin, beta pseudogene 1 8 8 8 p12 29168098 29169740 + 30308375 30330600 + 30209396 30211038 + 6480464 7070533 92755 ABBA01023670;AC109329;AMYH01018618;J00317;NG_001206 2142958 D6S2041 tubulin, beta polypeptide pseudogene 1 pseudo 12414 INFERRED 7207751 TUBBP10 tubulin, beta class I pseudogene 10 1 53460398 53461695 + 100418902 ABBA01074748;AL445183;AMYH01000624;NG_027095 pseudo 42344 INFERRED 1348067 TUBBP2 tubulin, beta pseudogene 2 13 13 13 q14.11 23015410 23016875 - 40856173 40857286 - 41957824 41959291 - 6480464 1685473 647000 ABBA01021272;AL731858;AMYH01005061;NG_011428 1651897 SGC34396 pseudo 12415 INFERRED 1349884 TUBBP3 tubulin, beta pseudogene 3 14 14 14 q21.2 23604453 23605334 + 42813820 42814901 + 43744171 43745052 + 326106 ABBA01018025;AL445383;AMYH01005696;NG_002529 pseudo 18192 INFERRED 1352539 TUBBP4 tubulin, beta pseudogene 4 9 p13.3 34109197 34109451 + 493816 ABBA01065022;AL354989;AMYH01019332;NG_032183 bA537H15.5 APPROVED pseudo 19913 INFERRED 1346990 TUBBP5 tubulin, beta pseudogene 5 9 9 q34.3 140185931 140191706 + 141044565 141071885 + 6480464 11731935;21906983 643224 A6NKZ8 ABBA01022796;ABBA01022797;AF355123;AK308459;AL591424;AMYH01021925;AMYH01021926;AMYH01021927;NR_027156 A6NKZ8 Hs.551805 2176263 WI-13785 tubulin, beta polypeptide pseudogene 5 pseudo 23674 VALIDATED 7207641 TUBBP6 tubulin, beta class I pseudogene 6 7 p11.2 55713312 55714643 + 442308 ABBA01011859;AC099681;AMYH01017272;NG_022946 pseudo 42175 INFERRED 7207693 TUBBP7 tubulin, beta class I pseudogene 7 8 97138842 97140030 - 100533620 ABBA01037490;AC007992;AMYH01018906;NG_028884 pseudo 42176 INFERRED 7207541 TUBBP9 tubulin, beta class I pseudogene 9 6 p21.2 39960554 39967943 + 442210 ABBA01050772;AL136089;AMYH01016289;CH471081;NG_028263 EAX04003 pseudo 42178 INFERRED 1343714 TUBB6 tubulin, beta 6 class V 18 18 18 p11.21 12191548 12207217 + 12298257 12316568 + 12308257 12326568 + 737633;6480464;6907045 12477932 15489334;14702039;16526095;15331610;12486001;10908577;21145461;20191564;19394292;16313188;18613117;84617;22863883;23106098;22939629;21110914;22903939;20972266;21890473;21906983;17266347;19738201;20639865;21525035;21565611;21963094;21987572;23000965;23349634;23438482;18029348;19380743;22268729;22337587;22505724;23042605;22438565 84617 K7EJ64;K7EJZ4;K7EK43;K7EL29;K7EN98;K7EPE5;K7EQT3;K7ERA8;K7ES63;K7ESM5;K7ESQ3;Q9BUF5 ABBA01074014;ABBA01074015;ABBA01074016;AK001295;AK022340;AK092677;AK098440;AK298196;AK304616;AK311364;AMYH01008832;AP005264;BC002654;BC111374;CH471113;NM_032525 AAH02654;AAI11375;ABM84412;ABM87393;BAB14016;BAG50888;BAG52593;BAG60466;BAG65398;EAX01553;EAX01554;NP_115914;Q9BUF5 Hs.193491;Hs.744066 1689969;1792644;1794480;5014855 PMC156124P3;PMC314434P3;RH65263;RH8152 HsT1601;MGC132410;MGC4083;TUBB-5 OTTHUMP00000162473;class V beta-tubulin;tubulin beta MGC4083;tubulin beta class V;tubulin beta-6 chain APPROVED protein-coding ENSG00000176014 20776 11349 615103 PROVISIONAL 1344969 TUBB7P tubulin, beta 7, pseudogene 4 4 q35 191140672 191143020 - 190903490 190906024 - 1580863;6480464 10828619;11731935;10512680;12477932;22939629;16196087;18781797;21906983 56604 ABBA01015938;AF146191;AF355124;AMYH01014801;CH471056;NG_029424;U83110;U83668 AAB41497;AAB48456;AAI40319;AAI46476;EAX04599 Hs.351544 1676300;5024607 RH80853;RH93426 TUBB4Q putative tubulin beta-4q chain;tubulin, beta polypeptide 4, member Q APPROVED pseudo 12413 15588 INFERRED 1347965 TUBB3 tubulin, beta 3 class III This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010] 16 16 q24.3 88517246 88530006 + 89988417 90002505 + 1580863;6480464;6907045;7240710 22159867;19405953;19122647;19074767;18977553;18946987;18645017;18497984;18435451;18379434;18178340;17714470;17543088;17406983;17289895;16816122;16675570;16344560;16061864;15671559;15489334;14702039;12905530;12789263;12486001;12477932;10908577;9473684;22209775;21110914;8619990;8125298;8098743;7789418;2461292;16526095;15331610;15698476;15691386;16169070;19360438;19690549;19724850;19828208;19899405;20021611;20074521;20087230;20220512;20587520;20403547;20393110;15203218;20406197;3459176;21045157;20829227;21071418;21289518;19059912;21315408;21586171;22684772;22863883;20534991;16196087;15303970;21163067;21820201;10191277;18781797;21900206;19322201;20473970;21044950;21520077;21781528;20972266;21139048;21906983;17620599;22266860;22502701;22740207;17671431;20301522;22180309;18029348;21145461;20868593;22939629;19805454;20639865;21525035;21565611;21890473;21963094;21987572;21988832;23000965;23349634;23378218;22766748;23402259;23463506;23667531;23703321;18784752;17360745;18613978;19380743;19454010;20877724;22174317;22337587;22505724;22438565 10381 A8K854;Q13509;Q53G92 ABBA01014120;ABBA01014121;ABBA01014122;AC092143;AF427491;AK058140;AK122757;AK127418;AK223039;AK292219;AK307201;AK314616;AMYH01007941;AU142509;BC000748;BC001678;BC003021;BC047518;BC064975;CD621827;CH471184;DA054466;NG_027810;NM_001197181;NM_006086;S62643;U47634 AAC52035;AAH00748;AAH01678;AAH03021;AAH47518;AAL28094;BAD96759;BAF84908;BAG37182;BAG53710;EAW66669;EAW66674;EAW66675;NP_001184110;NP_006077;Q13509 Hs.511743 1790381;1792644;2157766;2161677;5014855;5015867 GDB:312714;M73K;PMC156124P3;RH65263;RH65809;SHGC-60611 CDCBM;CFEOM3A;MC1R;TUBB4;beta-4 OTTHUMP00000176846;OTTHUMP00000245280;OTTHUMP00000245283;OTTHUMP00000245285;OTTHUMP00000245287;OTTHUMP00000245288;OTTHUMP00000245289;OTTHUMP00000245290;class III beta-tubulin;tubulin beta-3 chain;tubulin beta-4 chain;tubulin beta-III;tubulin, beta, 4 APPROVED protein-coding ENSG00000258947 20772 04044 600638;602661;614039 REVIEWED 1349876 TUBG1P tubulin, gamma 1 pseudogene 7 7 7 p13 43948101 43949716 + 43921646 43926183 + 43958236 43959851 + 10903841;9847074 442673 AACC02000040;ABBA01058198;AC004985;AMYH01017207;CH236951;NG_009488 pseudo 12418 INFERRED 1605531 TUBB8 tubulin, beta 8 class VIII 10 10 10 p15.3 36106 38782 - 82997 85178 - 92828 95178 - 6907045 11731935;12477932;10828619;16526095;12486001;10908577;22863883;16196087;17342744;21110914;21890473;21906983;18029348;20639865;20972266;21525035;21565611;21963094;21987572;23000965;23246001;23349634;22505724 347688 C9JMT5;F5H0I4;Q3ZCM7;Q5SQY0 ABBA01035280;AF355127;AL713922;AMYH01001961;BC101270;BC101271;CH471072;NM_177987 AAI01271;AAI01272;AAI56320;AAI57067;AAL32434;EAW86544;EAW86545;EAW86546;NP_817124;Q3ZCM7 Hs.532659 5024607 RH93426 FLJ40100;RP11-631M21.2;bA631M21.2 HSA10p15 beta-tubulin 4Q;OTTHUMP00000018932;OTTHUMP00000018933;OTTHUMP00000215934;OTTHUMP00000215935;class VIII beta-tubulin;tubulin beta-8 chain APPROVED protein-coding 20773 18244 VALIDATED 1348861 TUBB4A tubulin, beta 4A class IVa 19 19 p13.3 6445330 6453330 - 6494330 6502330 - 1580863;6480464;7240710 21145461;16565220;16303743;15489334;15324660;15188402;15121898;14702039;12840015;12486001;12477932;11120798;10908577;8619814;6865944;6462917;3782288;16526095;15331610;15698476;15691386;11076968;12221128;12852856;16462731;18553364;19299461;19773279;7790358;17627938;8653701;16196087;20171186;16944923;19167051;21151833;21839816;23455922;23463506;23503679;23582646;23703321;22863883;21110914;18781797;20972266;21139048;21906983;20473970;17620599;22266860;22586326;18029348;20195357;20639865;21525035;21890473;21963094;21987572;23000965;23106098;23142642;23190606;23246001;23349634;17360745;18613978;22174317;22505724;22797925 10382 M0QX14;M0QY37;M0QY85;M0QYM7;M0QZL7;M0R042;M0R0M1;M0R0X0;M0R1I1;M0R278;M0R2D3;M0R2T4;P04350 ABBA01051458;AC010503;AK075307;AK095202;AK293503;AK295917;AMYH01009373;AMYH01009374;BC006570;BC013683;CH471139;CQ783906;NM_006087;X00734 AAH06570;AAH13683;ACE86654;ACE87336;BAG52106;BAG56988;BAG58705;CAA25318;CAF86918;EAW69078;EAW69079;NP_006078;P04350 Hs.110837 1792644;1794478;1847296;2135566;2147134 A002C41;G19977;PMC156124P3;PMC314434P2;RH66664 DYT4;HLD6;TUBB4;TUBB5;beta-5 class IVa beta-tubulin;tubulin 5 beta;tubulin beta-4 chain;tubulin beta-4A chain;tubulin, beta 4 class IVa;tubulin, beta, 5 APPROVED protein-coding ENSG00000104833 20774 04045 128101;602662;612438 PROVISIONAL 1601774 TUBB4B tubulin, beta 4B class IVb 9 9 q34 139255532 139257980 + 140135711 140138159 + 6480464 21145461;21319273;11120798;16130169;18384219;17081983;16169070;15952740;15635413;15489334;14760703;14702039;14594945;12927047;12486001;12477932;12052866;12037579;11118478;10908577;3999141;3782288;2461292;16526095;15331610;15698476;15691386;11076968;12221128;12852856;16462731;17643375;19996274;7790358;16712791;19394292;20872967;17207965;15634916;16226712;17627938;22863883;22939629;16196087;19167051;21110914;22360420;17955473;18781797;20639865;21081666;21942715;21987572;22108332;20473970;20682791;21044950;21628590;20972266;21139048;21890473;21906983;21963094;22145905;17620599;22264600;18029348;17360745;18613978;19380743;22053931;22174317;22337587;22505724;22797925;23042605 10383 P68371;Q96HX0 ABBA01022752;AK000560;AK021414;AK026167;AK026594;AK026609;AK098686;AK298087;AMYH01021896;AY167990;BC001911;BC002783;BC002885;BC004188;BC007889;BC008006;BC012835;BC019359;BC019829;BC024038;BC029529;BC039175;BC071889;BX255925;BX648521;CB139156;CH471090;NM_006088;X02344 AAH01911;AAH02783;AAH02885;AAH04188;AAH07889;AAH08006;AAH12835;AAH19359;AAH19829;AAH24038;AAH29529;AAH39175;AAH71889;AAN87335;ADQ31779;BAG51031;BAG60373;CAA26203;EAW88368;EAW88369;EAW88370;NP_006079;P68371 Hs.433615 1730127;2155579;2158314;2191697;5024607 D9S188E;DXS7003E;MARC_5253-5254:996690193:1;RH71271;RH93426 Beta2;TUBB2;TUBB2C OTTHUMP00000162590;class IVb beta tubulin;class IVb beta-tubulin;tubulin beta-2 chain;tubulin beta-2C chain;tubulin beta-4B chain;tubulin, beta 2C;tubulin, beta, 2 APPROVED protein-coding ENSG00000188229 20771 04043 602660 VALIDATED 1314442 TUBE1 tubulin, epsilon 1 This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009] 6 6 6 q21 113133162 113150058 - 112498673 112515349 - 112391860 112408751 - 1580863;6480464 10620804;16344560;15489334;12510196;12477932;19851462;20508983;21906983 51175 Q5H8W7;Q5H8W9;Q9UJT0 ABBA01026079;ABBA01026080;AF201334;AK026242;AK126191;AMYH01016597;BC025405;BC031101;CA411886;CH471051;DA160210;NM_016262;Z99289 AAF09585;AAH25405;AAH31101;ABM82429;ABM85621;EAW48272;NP_057346;Q9UJT0 Hs.34851 1698600;1698762;1709042;1710948;5024413 L17877;RH102853;RH102944;SHGC-79592;SHGC-84449 FLJ22589;FLJ44203;TUBE;dJ142L7.2 OTTHUMP00000017033;epsilon-tubulin;tubulin epsilon chain APPROVED protein-coding ENSG00000074935 20775 06298 607345 REVIEWED 1323696 TUBD1 tubulin, delta 1 17 17 17 q23.1 54400352 54433812 - 55291633 55325078 - 57936840 57970306 - 1580863;6480464 10620804;15489334;15081367;14702039;12477932;12047234;10753753;20508983;16344560;19913121;20628086;12052866;21906983;21987572;18029348;23128233;23251661;12549820 51174 K7EKE2;K7EMW6;K7EPQ0;K7EQN9;Q9H7Z8 AB030837;AB031044;AB031045;ABBA01003178;ABBA01003179;ABBA01003180;AC004686;AF201333;AK022771;AK024096;AK024741;AK298492;AK301312;AK315172;AMYH01008526;BC000258;BG682935;BX119803;CH471109;DA607129;NM_001193609;NM_001193610;NM_001193611;NM_001193612;NM_001193613;NM_016261 AAF09584;AAH00258;BAB14825;BAD16590;BAD83580;BAD83581;BAG51113;BAG60700;BAG62863;EAW94385;EAW94386;EAW94387;EAW94388;EAW94389;NP_001180538;NP_001180539;NP_001180540;NP_001180541;NP_001180542;NP_057345;Q9UJT1 Hs.463638 1691742;2110007;2116779;5022200;5022651 D11S2921;G42217;L18426;SHGC-30060;TUBD1_9680 FLJ12709;TUBD delta-tubulin;tubulin delta chain protein-coding ENSG00000108423 16811 06297 607344 VALIDATED 1316944 TUBG2 tubulin, gamma 2 17 17 17 q21 37466727 37474489 + 38064837 38072550 + 40811266 40819024 + 1580863;6480464 10903841;15489334;14702039;12477932;11237715;10840040;9566969;8125298;14767062;11956313;12221128;17337485;20508983;8838651;22235350;20360068;21906983;22806905 27175 Q9NRH3 ABBA01006415;AC067852;AF225971;AK022324;AK225134;AMYH01008395;BC009670;BC051890;BC052283;BC108739;DC353745;NM_016437 AAF34188;AAH09670;AAH51890;AAI08740;BAB14012;NP_057521;Q9NRH3 Hs.708059 1771400;1851925;2110009;2147201;5093692 A009V07;D17S1396E;G32868;RH11832;TUBG2_9537 MGC131994 gamma-2-tubulin;tubulin gamma-2 chain protein-coding ENSG00000037042 12419 05778 605785 VALIDATED 732715 TUBG1 tubulin, gamma 1 This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009] 17 17 q21 38015220 38020778 + 40761358 40767256 + 1580863;1626306;6480464 15912881 9566969;17286961;1904010;19299467;19215229;18621829;18316369;17406983;17102634;16464125;16344560;15917813;15489334;14603253;12477932;12221128;11950600;11942621;11840567;11790298;11691781;11237715;11082048;10903841;10840040;9789027;7592789;7490091;14767062;17891179;11003675;11163258;12639940;14594945;15280373;22262852;16714300;10191277;10444072;10562286;11076968;11956313;12852856;16043481;16462731;17350042;19509060;19543530;19648910;20056645;20508983;7790358;8838651;15367667;16481748;20224777;12928331;21473851;17314511;12361598;22863883;21795687;14676191;19244116;20360068;21465471;12771190;15514162;15670215;16322234;21139048;21890473;21906983;21951856;22114354;15456882;22818914;22939629;14970193;22806905;10225950;17106265;17360745;20603326;21135143;22053931;22268729 7283 K7EIS0;K7EKE5;P23258 ABBA01006419;AC067852;AK313339;AMYH01008395;BC000619;BG167819;BT019931;CR407642;DB027894;DB028144;M61764;NM_001070 AAA52620;AAH00619;AAV38734;ABM82851;ABM86036;BAG36143;CAG28570;NP_001061;P23258 Hs.279669 1732255;1733796;2108617;2110009;2157497;2159109;2168264 D17S1147;D17S1320;SHGC-64290;STS-N92854;TUBG1_8698;TUBG2_9537;WI-18977 GCP-1;TUBG;TUBGCP1 gamma-1-tubulin;gamma-tubulin complex component 1;tubulin gamma-1 chain;tubulin, gamma polypeptide APPROVED protein-coding ENSG00000131462 12417 01853 191135 REVIEWED 1351371 TUFMP1 Tu translation elongation factor, mitochondrial pseudogene 1 17 17 17 q11.1 22274964 22276595 - 22433843 22435200 - 25409518 25411149 - 9545647 645668 ABBA01015073;AC069061;AMYH01008274;NG_006578;Y11796 TUFML APPROVED pseudo 12421 INFERRED 1320019 TUBGCP2 tubulin, gamma complex associated protein 2 10 10 10 q26.3 128394113 128423294 + 134943128 134972634 - 135092134 135125841 - 1580863;6480464 9566967;15592455;15489334;14759258;14702039;12477932;12221128;11694571;8125298;7566098;11956313;16980960;19299467;19615732;8838651;17314511;20360068;22114354;21139048;21890473;21906983;19531213;18029348;21135143 10844 B3KTU7;F2Z2B9;Q53EQ3;Q9BSJ2;R4GMM4 AA377890;ABBA01006209;AF042379;AK092113;AK096087;AK128430;AK223586;AK297251;AK299564;AK314520;AL360181;AL592071;AMYH01003232;BC005011;BC010373;BC052368;BC093770;BC111957;BC143247;CH471211;CK818507;DC388353;NM_001256617;NM_001256618;NM_006659;NR_046330 AAC39728;AAH52368;AAH93770;AAI11958;AAI43248;BAD97306;BAG52483;BAG53209;BAG59730;BAG61507;EAW61327;EAW61328;NP_001243546;NP_001243547;NP_006650;Q9BSJ2 Hs.523370 1682501;1740173;1855392;5015619;5015881 D10S1634;D11S3114;GDB:335751;RH91135;WI-14226 FLJ46573;GCP-2;GCP2;Grip103;MGC138162;SPBC97;Spc97p;h103p;hGCP2;hSpc97 GCP-2;OTTHUMP00000020808;OTTHUMP00000020809;gamma-ring complex protein 103 kDa;gamma-tubulin complex component 2;gamma-tubulin complex protein 2;h103p;hGCP2;hGrip103;hSpc97;spindle pole body protein Spc97 homolog protein-coding 18599 18245 VALIDATED 1313927 TUBGCP3 tubulin, gamma complex associated protein 3 13 13 13 q34 93964643 94067798 - 112187326 112290482 - 113139328 113242481 - 1580863;6480464 11956313;19299467;19615732;20379614;7876350;8838651;9138452;9566969;15489334;15057823;12477932;12221128;11694571;9566967;20858683;17959831;21139048;21890473;21906983;19322201;20360068;21900206;19531213;21135143 10426 Q96CW5 ABBA01019846;ABBA01019847;AF042378;AJ003061;AJ003062;AK302537;AK314785;AL139384;AL160033;AMYH01005388;BC007763;BC013781;BC046634;BT009772;CH471085;L13800;L13801;NM_006322 AAC39727;AAH07763;AAH13781;AAH46634;AAP88774;ABM81998;ABM85181;BAG37319;BAG63809;CAA05832;CAA05833;EAX09163;EAX09164;EAX09165;EAX09166;NP_006313;Q96CW5 Hs.224152;Hs.595145 1671514;1738365;1766333;1855539 D13S503E;RH44376;RH45555;SHGC-149674 GCP3;SPBC98;Spc98p GCP-3;OTTHUMP00000018726;OTTHUMP00000018727;gamma-ring complex protein 104 kDa;gamma-tubulin complex component 3;h104p;hGCP3;hGrip104;hSpc98;spindle pole body protein Spc98 homolog protein-coding ENSG00000126216 18598 10289 PROVISIONAL 1603663 TUBGCP4 tubulin, gamma complex associated protein 4 15 15 15 q15 20433964 20468909 + 41450605 41485550 + 43663313 43698258 + 6480464 10562286;16189514;15489334;14702039;12477932;11694571;11956313;12221128;20508983;8838651;19531213;22939629;20360068;18029348;21900206;21987572;21139048;21890473;21906983;12852856;21135143;22797925 27229 H3BN56;H3BNL9;H3BPU4;H3BQ12;H3BQY4;H3BS59;Q9BVR6;Q9UGJ1 ABBA01038348;AC018924;AJ249677;AK001639;AK026551;AK027703;AK127306;AMYH01006589;BC000966;BC009870;BC012801;CH471125;NM_014444 AAH00966;AAH09870;AAH12801;ABM87016;ABW03851;BAA91802;BAG51368;CAB62539;EAW92603;NP_055259;Q9UGJ1 Hs.584887 1677482;1776518;2147802;5015619;5015861;5015959;5019635;5022200;5022578;5037552;7185938 A005S05;D10S16;D10S2448;D11S3114;D1S1423;D8S2279;G32283;L18426;RH80324;SHGC-33272 76P;FLJ14797;GCP-4;GCP4;h76p;hGCP4;hGrip76 GCP-4;gamma tubulin ring complex protein (76p gene);gamma-ring complex protein 76 kDa;gamma-tubulin complex component 4;h76p;hGCP4;hGrip76 protein-coding ENSG00000137822 16691 10616 609610 PROVISIONAL 1312280 TUBGCP5 tubulin, gamma complex associated protein 5 15 15 15 q11.2 1506523 1547034 - 20384836 20425332 + 22833395 22873891 + 1580863;6480464 11694571;18316369;16982806;15489334;15342556;14702039;14508708;12477932;11572484;11956313;12221128;8838651;16196087;20360068;21890473;21906983;21135143 114791 H0YLG3;H0YMZ9;Q96RT8 AB067486;ABBA01040254;ABBA01040255;ABBA01040256;AC116166;AF272884;AK023934;AK056416;AK289859;AK310897;AMYH01006380;BC039271;BC046182;BC071560;BP362649;CH471258;NM_001102610;NM_052903 AAH46182;AAH71560;AAK77662;BAB67792;BAF82548;EAW65556;EAW65557;NP_001096080;NP_443135;Q96RT8 Hs.533898 5015881 GDB:335751 GCP5;KIAA1899 GCP-5;OTTHUMP00000159254;gamma-tubulin complex component 5;gamma-tubulin complex component GCP5 protein-coding ENSG00000153575 18600 12177 608147 VALIDATED 1317114 TUBGCP6 tubulin, gamma complex associated protein 6 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008] 22 22 22 q13.31-q13.33 34531029 34558302 - 48998245 49025527 - 50656118 50683400 - 1580863;6480464 11694571;17182859;15489334;15302935;15146197;12477932;11258795;10591208;22279524;11956313;12221128;20205591;8838651;20360068;22302995;21139048;21906983;23251661;21135143 85378 E7EQL8;H7C2H5;H7C358;Q96RT7 AB051456;ABBA01011375;ABBA01011376;ABBA01011377;ABBA01011378;ABBA01011379;AF272887;AK000636;AK310419;AL022328;AL137665;AL832617;AMYH01012896;AMYH01012897;BC004127;BC023573;BC035709;BC042165;BC113849;BC114457;BC127614;BC144488;BC144489;BC150613;BC151209;CH471138;CN333235;NG_032160;NM_020461 AAH23573;AAH42165;AAI14458;AAI27615;AAI44489;AAI50614;AAI51210;AAK82968;BAB33339;EAW73507;EAW73508;EAW73509;EAW73510;NP_065194;Q96RT7 Hs.336431 2155175;5015861;5016929;5037552;7185938 D10S16;D8S2279;RH91979;WI-14130 GCP-6;GCP6;MCCRP;MCPHCR GCP-6;OTTHUMP00000028553;gamma-tubulin complex component 6 APPROVED protein-coding ENSG00000128159 18127 15589 251270;610053 REVIEWED 4889392 TULP3P1 tubby like protein 3 pseudogene 1 13 13 13 q32.1 78446271 78448603 - 96392992 96399182 - 97598849 97601181 - 100128017 ABBA01027167;AL353581;AMYH01005311;NG_011427 pseudo 39262 INFERRED 1605999 TUG1 taurine upregulated 1 (non-protein coding) 22 22 22 q12.2 15165777 15175526 + 29695634 29705381 + 31365634 31375381 + 6480464 15797018;15146197;14702039;12477932;8889548;8631027;16712791;22078878;22961206;23801869;15196694 55000 AB073661;ABBA01055315;AC004542;AI186830;AK000749;AK057695;AMYH01012711;BC037986;BM461799;BM719085;BM806212;BQ000368;BU540086;CB127883;CD556251;CN395940;NR_002323 Hs.554829 1680162;1738993;1774786;1776352;2127545;2148760;2161564;2162384;2184727 A006X44;D22S1078;G31567;RH98260;SHGC-30302;SHGC-35762;SHGC-36637;SHGC-57983;SHGC-59930 FLJ20618;LINC00080;MGC46067;NCRNA00080;TI-227H miscrna 26066 08629 614971 VALIDATED 1321519 TULP2 tubby like protein 2 TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008] 19 19 19 q13.1 46251586 46269352 - 54076034 54093750 - 49384222 49401996 - 1580863;6480464 9096357;16189514;14708010;12477932;10591637;22990118;19322201 7288 E5RH05;E5RHR0;E5RIF7;H0YBB5;O00295 ABBA01032962;ABBA01032963;AC026803;AMYH01009908;BC026070;CH471177;DB442827;NM_003323;U82469 AAB53701;AAH26070;ABM81862;EAW52410;NP_003314;O00295 Hs.104636 CT65;TUBL2 OTTHUMP00000226636;cancer testis antigen 65;cancer/testis antigen 65;tubby-like protein 2;tubby-related protein 2 2289232 BW89_H APPROVED protein-coding ENSG00000104804 12424 03813 602309 VALIDATED 1322319 TULP1 tubby like protein 1 This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with retinitis pigmentosa. [provided by RefSeq, Jul 2008] 6 6 p21.3 35573629 35588625 - 35465651 35480647 - 1624352;1580863;6480464;7240710 9462750 17474147;18432314;17962469;17620573;17286855;15557452;15489334;15146197;12477932;11481257;10607826;10549638;10440267;9660588;9521870;9462751;22841784;9096357;7987322;1000483;20591486;16303976;19837063;20978472;20801516;21697133;23499059;21987678;22605927;22665969;20301475;20301590 7287 O00294;Q5TGM7 AB593123;AB593124;ABBA01038235;ABBA01038236;AF034923;AL033519;AMYH01016267;BC032714;BC065261;CH471081;CN355966;DQ426893;NG_009077;NM_003322;U82468 AAB53700;AAB97966;AAH32714;AAH65261;ABD90544;ABZ92241;BAJ84063;BAJ84064;EAX03839;EAX03840;NP_003313;O00294 Hs.485208 1715655 RH119273 LCA15;RP14;TUBL1 OTTHUMP00000016266;OTTHUMP00000016267;Tubby related protein 1 (Tubby-like protein 1);tubby-like protein 1;tubby-related protein 1 APPROVED protein-coding ENSG00000112041 12423 03788 600132;602280;613843 REVIEWED 2947879 TUSC2P1 tumor suppressor candidate 2 pseudogene 1 Y Y Y p11.2 92529329 92530559 + 5815451 5816881 + 5755552 5756782 + 12815422;9847074 359794 ABBA01069925;AC010977;NG_002812 TUSC2P pseudo 23963 INFERRED 1321243 TUFT1 tuftelin 1 1 1 1 q21 124628076 124671202 + 149779405 149822683 + 151512781 151556059 + 1580863;6480464 12489194;11256614;18781068;16710414;16381901;15489336;15489334;14702039;12975309;12477932;11733143;11230166;11076863;11062985;10806191;8125298;7919663;20360068;21139048;19322201 7286 A6PVU8;F5H607;Q9NNX1 ABBA01049399;ABBA01049400;ABBA01049401;AF254260;AF254860;AK026989;AK075001;AK223161;AK298066;AK299263;AK299925;AK315414;AL136917;AL365436;AMYH01001389;AY358610;BC002933;BC008301;CH471121;CQ782987;NM_001126337;NM_020127 AAF78913;AAF78914;AAH02933;AAH08301;AAQ88973;ABM84116;ABM84609;ABM87804;BAB15615;BAC11346;BAD96881;BAG37804;BAH12717;BAH12982;BAH13174;CAB66851;CAF86208;CAL38134;EAW53429;EAW53430;EAW53431;EAW53432;EAW53433;NP_001119809;NP_064512;Q9NNX1 Hs.489922 1341138;1342378;1670123;1684020;1798436;1803288;1803790;1805298;1807990;1808554;1811976;1811978;1813210;1813632;1814016;1815576;1815722;1815836;1815838;1816424;1818258;1821762;1825704;1826366;1828826;1829734;1830686;1831192;1833500;1835660;1836440;1839814;1839874;1840752;1842074;1842230;1842936;1844180;1844268;1844658;1844732;1844734;1844890;1927436;1927438;1927440;1927442;1927444;1927446;1927448;1927450;1927452;1927454;1927456;1927458;1927460;1927462;1927464;1927466;1927468;1927470;1927472;1927474;1927476;1927478;1927480;1927482;1927484;1927486;1927488;1927490;1927492;1927494;1927496;1927498;1927500;1927502;1927504;1927506;1927508;1927510;1927512;1927514;1927516;1927518;1927520;1927522;1927524;1927526;1927528;1927530;1927532;1927534;1927536;1927538;1927540;1927542;1927544;1927546;1927548;1927550;1927552;1927554;1927556;1927558;1927560;1927562;1927564;1927566;1927568;1927570;1927572;1927574;1927576;1927578;1927580;1927582;1927584;1927586;1927588;1927590;1927592;1927594;1927596;1927598;1927600;1927602;1927604;1927606;1927608;1927610;1927612;1927614;1927616;1927618;1927620;1927622;1927624;1927626;1927628;1927630;1927632;1927634;1927636;1927638;1927640;1927642;1927644;1927646;1927648;1927650;1927652;1927654;1927656;1927658;1927660;1927662;1927664;1927666;1927668;1927670;1927672;1927674;1927676;1927678;1927680;1927682;1927684;1927686;1927688;1927690;1927692;1927694;1927696;1927698;1927700;1927702;1927704;1927706;1927708;1927710;1927712;1927714;1927716;1927718;1927720;1927722;1927724;1927726;1927728;1927730;1927732;1927734;1927736;1927738;1927740;1927742;1927744;1927746;1927748;1927750;1927752;1927754;1927756;1927758;1927760;1927762;1927764;1927766;1927768;1927770;1927772;1927774;1927776;1927778;1927780;1927782;1927784;1927786;1927788;1927790;1927792;1927794;1927796;1927798;1927800;1927802;1927804;1927806;1927808;1927810;1927812;2123643;2135499;2156998;2171113;2181599;2207878;2207880;2207882;2207884;2207886;2207888;2207890;2207892;2207894;2207896;2207898;2207902;2207904;2207906;2207908;2207910;2207912;2207914;2207916;2207918;2207920;2207922;2207924;2207926;2207928;2207930;2207932;2207934;2207936;2207938;5022578;5022651;5037552;5127967 D11S2921;D1S1423;D1S2343;D1S2345;D1S317E;D8S2279;ECD00055;ECD02540;ECD02803;ECD03595;ECD04973;ECD05259;ECD06993;ECD06994;ECD07625;ECD07839;ECD08035;ECD08824;ECD08899;ECD08958;ECD08959;ECD09254;ECD10186;ECD11967;ECD13960;ECD14296;ECD15540;ECD15999;ECD16479;ECD16732;ECD17893;ECD18987;ECD19382;ECD21090;ECD21120;ECD21567;ECD22240;ECD22318;ECD22676;ECD23303;ECD23348;ECD23543;ECD23581;ECD23582;ECD23661;REN34544;REN34545;REN34546;REN34547;REN34548;REN34549;REN34550;REN34551;REN34552;REN34553;REN34554;REN34555;REN34556;REN34557;REN34558;REN34559;REN34560;REN34561;REN34562;REN34563;REN34564;REN34565;REN34566;REN34567;REN34568;REN34569;REN34570;REN34571;REN34572;REN34573;REN34574;REN34575;REN34576;REN34577;REN34578;REN34579;REN34580;REN34581;REN34582;REN34583;REN34584;REN34585;REN34586;REN34587;REN34588;REN34589;REN34590;REN34591;REN34592;REN34593;REN34594;REN34595;REN34596;REN34597;REN34598;REN34599;REN34600;REN34601;REN34602;REN34603;REN34604;REN34605;REN34606;REN34607;REN34608;REN34609;REN34610;REN34611;REN34612;REN34613;REN34614;REN34615;REN34616;REN34617;REN34618;REN34619;REN34620;REN34621;REN34622;REN34623;REN34624;REN34625;REN34626;REN34627;REN34628;REN34629;REN34630;REN34631;REN34632;REN34633;REN34634;REN34635;REN34636;REN34637;REN34638;REN34639;REN34640;REN34641;REN34642;REN34643;REN34644;REN34645;REN34646;REN34647;REN34648;REN34649;REN34650;REN34651;REN34652;REN34653;REN34654;REN34655;REN34656;REN34657;REN34658;REN34659;REN34660;REN34661;REN34662;REN34663;REN34664;REN34665;REN34666;REN34667;REN34668;REN34669;REN34670;REN34671;REN34672;REN34673;REN34674;REN34675;REN34676;REN34677;REN34678;REN34679;REN34680;REN34681;REN34682;REN34683;REN34684;REN34685;REN34686;REN34687;REN34688;REN34689;REN34690;REN34691;REN34692;REN34693;REN34694;REN34695;REN34696;REN34697;REN34698;REN34699;REN34700;REN34701;REN34702;REN34703;REN34704;REN34705;REN34706;REN34707;REN34708;REN34709;REN34710;REN34711;REN34712;REN34713;REN34714;REN34715;REN34716;REN34717;REN34718;REN34719;REN34720;REN34721;REN34722;REN34723;REN34724;REN34725;REN34726;REN34727;REN34728;REN34729;REN34730;REN34731;REN34732;RH64508;RH64744;RH66158;RH70512;RH70740;RH79758;SHGC-152544;stSG627272;stSG627273;stSG627274;stSG627275;stSG627276;stSG627277;stSG627278;stSG627279;stSG627280;stSG627281;stSG627282;stSG627285;stSG627286;stSG627287;stSG627288;stSG627289;stSG627290;stSG627291;stSG627292;stSG627293;stSG627294;stSG627295;stSG627296;stSG627297;stSG627298;stSG627299;stSG627300;stSG627302;stSG627303;stSG627304 OTTHUMP00000014511;OTTHUMP00000014512;OTTHUMP00000196314;tuftelin protein-coding ENSG00000143367 12422 02516 600087 VALIDATED 1313566 TUFM Tu translation elongation factor, mitochondrial This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008] 16 16 p11.2 28761613 28765144 - 28853732 28857729 - 1580863;6480464;7240710 17353931;9332382;18063578;18753147;17160893;17033963;16632485;15952740;15635413;15489334;12665801;12577067;12477932;11790298;11741979;9545647;7828719;8547323;17207965;19759913;20877624;18029348;19524667;21145461;21319273;20935630;19454010;22863883;16335966;22939629;16196087;19156129;19167051;20186120;22586326;21965664;12777385;12938929;18781797;20639865;21081666;21139048;21890473;21906983;21987572;21110914;16236267;21628590;22749352;23182705;23184937;19738201;22772342;22904065;23000965;23246001;21853274;22505724;22944692;22952844 7284 H3BNU3;P49411 ABBA01045688;AC133550;AMYH01007478;BC001633;BC010041;CA420396;CH471267;L38995;NG_008964;NM_003321;S75463;X84694 AAB00499;AAC60647;AAH01633;AAH10041;ADQ32704;CAA59169;EAW51997;EAW51998;NP_003312;P49411 Hs.12084 1676418;1689143;2175681 HSC0MH022;RH11620;RH27929 COXPD4;EF-TuMT;EFTU;P43 EF-Tu;OTTHUMP00000122539;elongation factor Tu, mitochondrial APPROVED protein-coding ENSG00000178952 12420 03861 602389;610678 REVIEWED 1606109 TUSC1 tumor suppressor candidate 1 This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008] 9 9 9 p21.2 25603429 25605898 - 25666387 25668856 - 25676387 25678856 - 6480464 15208665;12477932;20574843;21116278;22589738;19322201 286319 Q2TAM9 ABBA01065141;AL590322;AMYH01019289;AMYH01019290;AY168647;BC017510;BC028316;BC036931;BC046919;BC110824;BM126697;BM126733;CH471071;NG_012031;NM_001004125 AAH17510;AAH28316;AAH46919;AAI10825;AAO38227;EAW58580;NP_001004125;Q2TAM9 Hs.26268;Hs.606014 1678011 RH78062 MGC131751;TSG-9;TSG9 OTTHUMP00000215884;tumor suppressor candidate gene 1 protein APPROVED protein-coding ENSG00000198680 31010 18247 610529 REVIEWED 1350994 TULP4 tubby like protein 4 6 6 6 q25-q26 159381741 159580886 + 158653680 158852848 + 158733692 158932860 + 1580863;6480464 8612280;17474147;11595174;18029348;14702039;12076535;10718198;12477932;20379614;19322201;20881960;21145461 56995 Q9NRJ4 AB037818;ABBA01021090;ABBA01021091;ABBA01021092;AF219946;AF288480;AK092091;AK304056;AL353800;AL360169;AMYH01016785;AMYH01016786;AMYH01016787;AMYH01016788;AMYH01016789;BC152476;BE795693;CH471051;NM_001007466;NM_020245 AAF87975;AAG01020;AAI52477;AAI66702;BAA92635;BAG64964;EAW47661;EAW47662;NP_001007467;NP_064630;Q9NRJ4 Hs.486993 1339774;1645665;1658616;1663873;1671615;1695804;1715971;1719873;1751749;1761975;1781122;1787648;2113820;2161393;2187567;7185691 AB055326;D6S437;NIB330;RH122728;RH124055;RH36345;RH46643;RH48840;SHGC-105718;SHGC-145905;SHGC-156011;SHGC-82563;STS-H78234;WI-14921;stdJ250C19SP6 KIAA1397;RP3-442A17.1;TUSP OTTHUMP00000017502;OTTHUMP00000017503;tubby super-family protein;tubby superfamily protein;tubby-like protein 4;tubby-related protein 4 protein-coding ENSG00000130338 15530 18246 VALIDATED 1316946 TUSC5 tumor suppressor candidate 5 17 17 17 p13.3 1196900 1218026 + 1129707 1151031 + 1182957 1204281 + 1580863;6480464 17689857;12660825;12477932 286753 Q8IXB3 AB090231;ABBA01054653;AC032044;AL831929;AMYH01007991;AMYH01007992;AMYH01007993;BC142615;CH471108;NM_172367 AAI42616;BAC43751;EAW90630;NP_758955;Q8IXB3 Hs.146059 DSPB1;IFITMD3;LOST1 OTTHUMP00000163051;dispanin subfamily B member 1;interferon induced transmembrane protein domain containing 3;interferon-induced transmembrane domain-containing protein D3;located at seventeen p thirteen point three 1;protein located at seventeen-p-thirteen point three 1;tumor suppressor candidate 5 protein-coding ENSG00000184811 29592 18248 612211 VALIDATED 4889172 TUSC7 tumor suppressor candidate 7 (non-protein coding) 3 3 3 q13.31 114836434 114843686 + 117914028 117917889 + 116428635 116435887 + 12477932;20048075;23558749;23680400 285194 ABBA01061610;AC108687;AC108713;AMYH01013409;AW082858;AW195910;BC035185;BC104179;BC104180;BC112981;BC112982;NR_015391 Hs.120364 2113750 AB052180 LINC00902;LSAMP-AS1;NCRNA00295;TUSC7 APPROVED miscrna 27701 VALIDATED 4140303 TVP23BP1 trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) pseudogene 1 15 15 15 q12 5371241 5371837 + 24792808 24793410 + 27210062 27210658 + 100129124 ABBA01044310;AC127511;AMYH01006492;NG_022121 FAM18B3P APPROVED pseudo 31127 INFERRED 4140027 TVP23BP2 trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) pseudogene 2 2 2 74686564 74687178 - 74855455 74856069 - 100421473 ABBA01075608;AC005033;AMYH01010454;NG_023571 FAM18B4P APPROVED pseudo 38869 INFERRED 1348382 TULP3 tubby like protein 3 This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009] 12 12 12 p13.3 4613921 4664219 + 2870294 2920565 + 3000033 3050306 + 1580863;6480464 11375483;15489334;14702039;12477932;11801719;10509669;9828123;20634891;23382074;21139048;21890473;21906983;22190034 7289 B7Z1E7;B7Z6A2;F5GWL5;F5H7B9;F8WBZ9;H0YFU8;H0YG12;O75386 ABBA01048794;ABBA01048795;ABBA01048796;AC005911;AF045583;AK024246;AK293285;AK307434;AMYH01004183;BC019618;BC032587;BP392987;CH471116;NM_001160408;NM_003324 AAC95431;AAH32587;ABZ92242;ADZ16021;BAG51279;BAH11483;EAW88876;EAW88877;EAW88878;NP_001153880;NP_003315;O75386 Hs.655333 1648280;1659901;1661325;2108619 G17615;RH44963;STS-N62451;TULP3_8701 MGC45295;TUBL3 OTTHUMP00000238115;OTTHUMP00000238116;tubby-like protein 3;tubby-related protein 3 APPROVED protein-coding ENSG00000078246 12425 05292 604730 REVIEWED 5508061 TVP23C-CDRT4 TVP23C-CDRT4 readthrough This locus represents naturally occurring read-through transcription between the neighboring FAM18B2 (family with sequence similarity 18, member B2) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011] 17 p 15339332 15466945 - 16344560;20967262;8889548 100533496 E5RGC5;E5RIS5;Q96ET8 AB074181;ABBA01055043;AC005517;AC005838;AK303475;AMYH01008130;CB850543;DA796743;NM_001204478;NR_037924 BAE45741;BAG64512;NP_001191407 Hs.164595 FAM18B2-CDRT4;FLJ53614 FAM18B2-CDRT4 readthrough;OTTHUMP00000227734;OTTHUMP00000227735;OTTHUMP00000246095;hypothetical protein LOC100533496;uncharacterized protein LOC100533496 APPROVED protein-coding ENSG00000259024 42961 VALIDATED 1606831 TUSC3 tumor suppressor candidate 3 This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 p22 15442101 15666366 + 15397596 15624158 + 6480464;6907045;7240710 12887896;15835887;18455129;18452889;17641416;16270321;15489334;15231748;14718574;12477932;10097140;9778121;8661104;21513506;20505342;19717468;19451220;16344560;21557188;21739581;21987572;22424883;22449649;20972266;20301507 7991 D6RA37;D6RDV0;D6RIY7;Q13454 ABBA01021598;ABBA01021599;AC010656;AC019292;AC091559;AC100850;AF028729;AI366810;AK026149;AMYH01018537;AMYH01018538;AY530159;AY562998;AY562999;BC010370;BT020002;BX641112;CH471080;DA796279;NG_012141;NM_006765;NM_178234;U42349;U42359;U42360 AAB18374;AAB18375;AAB18376;AAH10370;AAS18677;AAS75588;AAS75589;AAV38805;ABM83862;ABM87184;EAW63837;EAW63838;EAW63839;NP_006756;NP_839952;Q13454 Hs.426324;Hs.600825 1697768;1699950;1704882;1705336;1714727;1734060;1747097;1794240;1794242;1794244;2111498;2143695;2155876;2157156;5127176 AV026556;D8S1188;D8S1667;D8S1992;D8S2069;PMC310830P6;PMC310830P7;PMC310830P8;RH102407;RH103583;RH120028;RH36122;RH36526;SHGC-79915;SHGC-83517 D8S1992;DKFZp686B22120;M33;MGC13453;MRT22;MRT7;N33;OST3A OTTHUMP00000120035;OTTHUMP00000120036;OTTHUMP00000220408;OTTHUMP00000220409;OTTHUMP00000220410;OTTHUMP00000220411;OTTHUMP00000220412;OTTHUMP00000220413;Putative prostate cancer tumor suppressor;magnesium uptake/transporter TUSC3;oligosaccharyltransferase 3 homolog A;tumor suppressor candidate 3 APPROVED protein-coding ENSG00000104723 30242 03228 601385;611093 REVIEWED 7175371 TVP23CP1 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) pseudogene 1 7 90261220 90261882 + 100421599 AACC02000015;ABBA01045833;AC000059;AMYH01017682;CH236949;NG_026605 1802554;1803572 ECD02164;ECD02688 pseudo 44646 INFERRED 7175485 TVP23CP2 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) pseudogene 2 16 p13 14294189 14295976 + 10493829;20677014 261735 ABBA01006880;AC130650;AMYH01007178;NG_002361;U91322 1736548 D16S2547E CGI-148P pseudo 44647 INFERRED 1353262 TWF1P1 twinfilin 1 pseudogene 1 17 17 17 q11.2 24388119 24391070 - 24552636 24555789 - 27528579 27531563 - 619519 ABBA01015032;AC005412;AMYH01008287;NG_005328 1657921;1676514 D12S1970;RH70527 A6ps1;PTK9P;PTK9P1 pseudo 21736 INFERRED 1354447 TWF1P2 twinfilin 1 pseudogene 2 X X q28 154675876 154679321 - 154517465 154520710 - 494555 ABBA01029138;AC234781;AL356738;AMYH01023323;NG_007309;NG_012497 A6ps2;PTK9P2 pseudo 21737 INFERRED 1343391 TUSC2 tumor suppressor candidate 2 This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008] 3 3 p21.3 50337345 50340672 - 50362341 50365668 - 632905;1580863;6480464 8780057 12477932;17353931;17486070;18172250;18077375;15489334;15126327;14702039;11593436;11085536;17545076;21273575;17207965;19671678;19852844;21645495 11334 F2Z2A9;G3V0I0;O75896 ABBA01024551;AC002455;AC002481;AF055479;AK124058;AK311998;AMYH01013170;BC023976;CH471055;NM_007275 AAC35497;AAH23976;ADQ32616;BAG34936;EAW65095;EAW65096;EAW65097;NP_009206;O75896 Hs.517981 1679459;1735190;2119930;2151301;2180870 Cda0la01;D3S2832E;D3S3118;RH91127;STS-N24898 C3orf11;FUS1;PAP;PDAP2 OTTHUMP00000210895;PDGFA associated protein 2;PDGFA-associated protein 2;fus-1 protein;fusion 1 protein;tumor suppressor candidate 2 APPROVED protein-coding ENSG00000114383 17034 06134 607052 REVIEWED 1345565 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009] 11 11 q12.2 62099096 62115592 - 62342517 62359109 - 737633;6480464 12477932 16751776;18305108;18288197;17872511;16790842;15489334;14702039;12603330;9628908;17643375;18172165;19615732;21102410;16055720;22863883;23306079;23667531;20618440;21139048;21906983;22244330 64852 C9JBX0;F5H0R1;F8WA97;J3KN81;Q9H6E5 ABBA01003229;ABBA01003230;AK025920;AK026000;AK292610;AMYH01003690;AP002990;BC005013;BC110910;BC128263;CA444886;CH471076;DQ586957;NM_022830 AAH05013;AAI10911;AAI28264;BAB15282;BAB15314;BAF85299;EAW74029;NP_073741;Q9H6E5 Hs.728983 1649510;1683637;1759997;2127407 RH66302;SHGC-105031;SHGC-2363;SHGC-57995 FLJ21850;FLJ22267;FLJ22347;MGC131987;MGC149809;PAPD2;RBM21;STARPAP;TUTase OTTHUMP00000213076;OTTHUMP00000213078;PAP-associated domain-containing 2;RNA binding motif protein 21;RNA uridylyltransferase;RNA-binding motif protein 21;RNA-binding protein 21;U6 TUTase;U6 snRNA-specific terminal uridylyltransferase 1;U6-TUTase;nuclear speckle targeted phosphatidylinositol 4-phosphate 5-kinase type I-alpha regulated-poly(A) polymerase;nuclear speckle-targeted PIPK1A-regulated-poly(A) polymerase;poly(A) polymerase associated domain containing 2;speckle targeted PIP5K1A-regulated poly(A) polymerase;star-PAP APPROVED protein-coding ENSG00000149016 26184 15226 610641 REVIEWED 1343449 TVP23A trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) 16 16 16 p13.13 11029800 11081859 - 10768034 10820122 - 10860533 10912621 - 6480464 15146197;12477932 780776 A6NH52;B7ZW18;I3L109;I3L3Y3;I3L488 ABBA01006796;ABBA01006797;ABBA01006798;AC074136;AK124106;AK294418;AL833564;AMYH01007152;BC050569;BC146882;BC146886;BC171816;BC171819;CN301583;NM_001079512 A6NH52;AAI46883;AAI46887;BAG57667;NP_001072980 Hs.371576 1761619;2145908;5015861;5022651;7185938 D10S16;D11S2921;D16S2962;SHGC-145614 FAM18A;YDR084C Golgi apparatus membrane protein TVP23 homolog A;family with sequence similarity 18, member A;hypothetical protein LOC780776;protein FAM18A APPROVED protein-coding ENSG00000166676 20398 PROVISIONAL 1602059 TVP23C trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) 17 17 p12 15346304 15407570 - 15405578 15466945 - 12477932;20379614;21890473;21906983 201158 B4E0Q0;C9JPH1;C9JYS5;E5RGC5;E5RIS5;J3QL47;K7EK95;Q96ET8 ABBA01055045;ABBA01055046;ABBA01055047;AC005517;AC005838;AK310363;AMYH01008130;BC011952;BQ448398;BU754306;DC393880;NM_001135036;NM_145301 AAH11952;NP_001128508;NP_660344;Q96ET8 Hs.744260 1339748;1645869;1668004;1684024;1693460;2110393;2184162;5015619;5016478;5022578;5022651;5024272;5037552;5114955;5115425 A006N39;AFM165zd4;D11S2921;D11S3114;D17S1281;D17S1930;D17S793;D1S1423;D2S1254;D8S2279;FAM18B__7626;GDB:434012;L29897;RH36376;SHGC-59075 FAM18B2;MGC8763 Golgi apparatus membrane protein TVP23 homolog C;OTTHUMP00000065088;OTTHUMP00000065089;OTTHUMP00000227907;family with sequence similarity 18, member B2;hypothetical protein LOC201158;protein FAM18B2 APPROVED protein-coding ENSG00000175106 30453 14125 VALIDATED 1314909 TVP23B trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) 17 17 17 p11.2 19300281 19303861 + 18625307 18650751 + 18684582 18710026 + 1580863;6480464 15489334;12477932;10810093;21906983 51030 E5RIS5;I3L376;J3KS67;J3QL63;K7ENL4;Q9NYZ1 ABBA01000635;ABBA01000636;AC107982;AF151906;AF223467;AK128119;AK290813;AMYH01008180;BC008430;BX537929;BX648167;NM_016078 AAD34143;AAF64142;AAH08430;BAF83502;CAD97906;NP_057162;Q9NYZ1 Hs.87295 1645869;1668004;1736548;2110393;5015961;5022578;5037552;5114955;5115425 A006N39;D15S1477;D16S2547E;D17S1281;D17S1930;D1S1423;D8S2279;FAM18B__7626;L29897 CGI-148;FAM18B;FAM18B1;FLJ46240;NPD008;YDR084C Golgi apparatus membrane protein TVP23 homolog B;OTTHUMP00000065076;family with sequence similarity 18, member B;family with sequence similarity 18, member B1;hypothetical protein LOC51030;protein FAM18B1 APPROVED protein-coding ENSG00000171928 20399 13293 PROVISIONAL 1323555 TWF1 twinfilin actin-binding protein 1 This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008] 12 12 q12 42473793 42486445 - 44187526 44200178 - 6480464 7507208;15188402;14702039;12807912;12477932;12429826;12207032;11870207;12775419;10406962;18837697;18029348;19423540;20406964;20438785;20571053;22863883;21832049;22939629;18781797;21139048;21080425;23224145;23340433 5756 F8VRG3;F8VS81;F8W1D0;F8W1Q9;F8W645;Q6NUK9 AB209302;ABBA01031425;ABBA01031426;AC093012;AK127868;AK291223;AK297206;AMYH01004415;BC022344;BC022491;BC043148;BC068548;BT019691;CH471111;CR541736;CR541761;NM_001242397;NM_002822;NR_073472;NR_073473;U02680 AAC50062;AAH22344;AAH43148;AAH68548;AAV38497;ACE86784;ACE87470;BAD92539;BAF83912;BAG54588;BAG59691;CAG46536;CAG46561;EAW57868;EAW57869;EAW57870;NP_001229326;NP_002813;Q12792 Hs.189075;Hs.313056 1657921;1676514;5102527;5117226;5124597 D12S1970;GDB:451852;RH143291;RH70015;RH70527 A6;MGC23788;MGC41876;PTK9 A6 protein tyrosine kinase;OTTHUMP00000241047;OTTHUMP00000241048;OTTHUMP00000241050;OTTHUMP00000241051;PTK9 protein tyrosine kinase 9;protein A6;protein tyrosine kinase 9;twinfilin, actin-binding protein, homolog 1;twinfilin-1 APPROVED protein-coding ENSG00000151239 9620 10174 610932 REVIEWED 735468 TWIST2 twist basic helix-loop-helix transcription factor 2 Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Twist. It is thought that during osteoblast development this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2012] 2 2 q37.3 239496916 239497176 + 239756673 239795893 + 1580863;6480464 22058208;18598946;11062344;19453261;17487558;15809452;15735646;15489334;14654692;12477932;10524757;9061034;7589808;11809751;21109964;20691403;20714342;19644484;19937140;21167768;21602879;21866569;21801849;21738662;22018873;21931173;22201613;23133563;22103974 117581 Q8WVJ9 ABBA01042610;ABBA01042611;AC142117;AC145625;AC149644;AMYH01011608;AW072674;BC017907;BC033168;BC103755;BU615717;CH471063;NG_032754;NM_001271893;NM_057179 AAH17907;AAH33168;AAI03756;ABM83732;ABM87052;EAW71163;EAW71164;NP_001258822;NP_476527;Q8WVJ9 Hs.422585 1656160;5113886 RH101841;RH99211 DERMO1;FFDD3;MGC117334;SETLSS;bHLHa39 OTTHUMP00000235137;class A basic helix-loop-helix protein 39;dermis-expressed protein 1;dermo-1 protein;twist homolog 2;twist-related bHLH protein Dermo1;twist-related protein 2 APPROVED protein-coding ENSG00000233608 20670 09616 227260;607556 REVIEWED 1317243 TWISTNB TWIST neighbor 7 7 7 p21.1 19719385 19732961 - 19701610 19715185 - 19735085 19748660 - 6480464 14702039;12690205;12477932;12438708;12393749;20881960;18029348;19615732;17620599;19322201 221830 Q3B726 AACC02000007;ABBA01056660;AC004940;AK090846;AK301329;AMYH01017100;BC013179;BC014574;BC056267;BC070358;BC130298;BC130300;BK000492;CH236948;CH471073;NM_001002926 AAH14574;AAI30299;AAI30301;ADR83135;BAH13460;DAA05732;EAL24277;EAW93714;NP_001002926;Q3B726 Hs.353035 1699230;2107731;2174418 RH103196;RH47958;TWISTNB__5167 DNA-directed RNA polymerase I subunit RPA43;OTTHUMP00000201809;twist neighbor protein protein-coding ENSG00000105849 18027 16311 608312 VALIDATED 1349130 TWIST1 twist basic helix-loop-helix transcription factor 1 Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008] 7 7 p21.2 19121616 19123820 - 19155091 19157295 - 1624353;1580863;5131599;6480464;6484113;7240710 8988166;19893041 10025406;18598946;19597909;19534813;19513566;19470737;19453261;19412634;19381684;19345188;19276370;19094228;19064546;19051271;18974133;18663125;18549475;18519689;18480983;18440840;18391499;18353781;18349132;18297062;18255367;18172301;18062917;17987801;17967182;17925286;17893140;17886095;17785550;17690110;17512904;17487558;17414280;17403902;17394502;17343269;17332325;17332324;17236203;17157810;17070479;17003487;16888803;16831897;16737925;16540516;16502419;16412561;16322226;16293629;16229805;15958559;15900593;15880747;15735646;15607966;15555546;15489334;15313894;15210113;14724576;14513358;12853948;12791045;12690205;12553906;12477932;12270142;12218784;12142027;12015302;11977182;11948912;11854168;11754069;11748846;11474656;11062344;10749989;10485844;10465122;9934984;9343420;9259286;9215678;9073070;8995765;8988167;8968762;7987323;7296937;1433226;15545268;22178381;22581441;20496080;20628624;20634891;19860490;20696219;19373776;19609939;19644484;19802001;19816777;19821482;19851501;20007935;20019840;20025748;20140954;18504427;20400975;20400976;20818389;20838384;20920982;20970163;20943789;21199805;19863427;20804746;20562331;20564230;18231738;20643727;20646316;20301368;20505321;19954024;20079104;21123820;21397860;20857420;20388391;21138866;20714342;21864967;21884981;22457607;21324165;23095743;23232513;23613408;22349827;21208645;21389145;20219012;21317430;21464926;21539816;22266852;22007485;11001584;21559372;21559426;21822911;21502402;23222305;22797064;21333765;22241470;22253230;21983900;21083641;21677079;21740802;21748764;22102471;21503964;21914771;21854747;22056872;21478681;21834956;21919891;22331730;22354994;23158991;21532573;21594904;21866569;22006371;22272264;22407364;22654667;22668877;22896337;22982861;22899291;21931630;21994965;21316706;21732143;22002117;22020939;22050045;22110753;22166980;21461979;22245869;21796367;22360285;22515221;22532563;22060274;22155737;22184289;22290439;22544111;22006115;22820497;22965800;22974478;22974479;23029385;23150175;23329645;23354436;22847601;23056278;23167357;23251661;22288519;23429988;22576709;22581828;21883379;22975381;23052737 7291 H7BY00;H7C4D7;Q15672 AACC02000007;ABBA01056654;ABBA01056655;AC003986;AMYH01017097;AW173505;BC036704;CH236948;CH471073;NG_008114;NM_000474;U80998;X91662;X99268;Y10871;Y11177;Y11178 AAC50930;AAC60381;AAH36704;ABM87769;CAA62850;CAA67664;CAA71821;EAL24279;EAW93711;NP_000465;Q15672 Hs.644998;Hs.66744 1690798;1712549;1798302;2107803;2159318 M63649;MARC_39127-39128:1075469460:1;RH99312;STS-Y10871;TWIST1_2534 ACS3;BPES2;BPES3;CRS1;SCS;TWIST;bHLHa38 B-HLH DNA binding protein;H-twist;OTTHUMP00000116043;OTTHUMP00000201810;OTTHUMP00000201811;TWIST homolog of drosophila;class A basic helix-loop-helix protein 38;twist homolog 1;twist-related protein 1 APPROVED protein-coding ENSG00000122691 12428 03374 101400;123100;180750;601622 REVIEWED 1312984 TWF2 twinfilin actin-binding protein 2 The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008] 3 3 3 p21.1 52241938 52252496 - 52237666 52248223 - 52262626 52273183 - 6480464 10406962;17353931;17910947;15592455;15489334;12807912;12477932;11230166;16169070;19913121;20628086;18837697;19955359;19423540;20406964;20438785;22863883;22939629;21044950;21900206;21139048;21926972;22318606;21565611;21988832 11344 D6RG15;Q6IBS0 ABBA01024511;AC006252;AC097637;AF109365;AL136773;AMYH01013182;BC000327;BC003161;BC016452;BI551353;CH471055;CR456732;CR533520;NM_007284;Y17169 AAH00327;AAH03161;AAH16452;AAQ13513;ABM82680;ABM85862;CAB38055;CAB66707;CAG33013;CAG38551;EAW65194;NP_009215;Q6IBS0 Hs.436439 1770982;5037307;5491673 MARC_7313-7314:996687766:1;PTK9L_9268;RH11729 A6RP;A6r;FLJ56277;MSTP011;PTK9L A6-related protein;OTTHUMP00000212615;OTTHUMP00000221144;hA6RP;protein tyrosine kinase 9-like (A6-related protein);twinfilin, actin-binding protein, homolog 2;twinfilin-1-like protein;twinfilin-2 APPROVED protein-coding ENSG00000247596 9621 08464 607433 REVIEWED 1322557 TWSG1 twisted gastrulation homolog 1 (Drosophila) 18 18 18 p11.3 9219304 9286615 + 9324851 9392418 + 9334765 9402418 + 1580863;6480464 19414861;17164348;15775969;17207965;16344560;16303743;14702039;14681194;12477932;12119341;11420619;11260715;10866189;21227728;23064961 57045 J3QS03;Q9GZX9 ABBA01049949;AF196834;AF294628;AI742025;AJ297391;AK027629;AK075550;AK315751;AMYH01008804;AP001033;BC020490;BU632669;CH471113;DA735800;NM_020648 AAG10076;AAG43468;AAH20490;ADQ31585;BAB55246;BAC11693;BAG38105;CAC05581;EAX01606;EAX01607;NP_065699;Q9GZX9 Hs.514685 2160317 RH46961 TSG OTTHUMP00000162352;twisted gastrulation protein homolog 1 protein-coding ENSG00000128791 12429 05443 605049 VALIDATED 1315122 TXK TXK tyrosine kinase 4 4 p12 47763167 47831030 - 48068410 48136273 - 1580863;6480464 7951233;16809408;16344560;15175272;12477932;12081135;11859127;11353545;10660534;10587356;9813138;9047237;8702662;8632917;7528718;19913121;20628086;14684750;18941202;20379614;20800603;10523612;22623531;16273093;23128233 7294 D6R9F2;D6RA14;D6RBM7;E7EQN8;P42681 ABBA01014341;ABBA01014342;AC079118;AC096749;AK300141;AK307055;AMYH01014160;BC017829;CH471069;DB103575;L27071;NM_003328;U07791;U07792;U34379 AAA19597;AAA19598;AAA74557;AAB60412;AAI66632;BAG61927;EAW93051;EAW93052;EAW93053;NP_003319;P42681 Hs.479669 1644430;1647878;1778001;2130750;2135996;2135998;5118444 A005Z18;D11S3316;D2S2579;D4S3133;G20621;RH70607;SHGC-59740 BTKL;MGC22473;PSCTK5;PTK4;RLK;TKL OTTHUMP00000128242;PTK4 protein tyrosine kinase 4;protein-tyrosine kinase 4;resting lymphocyte kinase;tyrosine kinase;tyrosine-protein kinase TXK protein-coding ENSG00000074966 12434 02505 600058 VALIDATED 1352919 TXLNG2P taxilin gamma 2, pseudogene Y Y Y q11.222 6021233 6044307 - 20188623 20211697 + 21729244 21769056 + 6480464 16344560;16136134;14702039;12815422;12477932;11181995;17213182;17974005;9847074;20967262 246126 Q6ZSJ5;Q9BZA5 ABBA01073768;ABBA01073769;ABBA01073770;ABBA01073771;ABBA01073772;AC009977;AC010137;AC010889;AF332224;AF332225;AI129169;AI828041;AK090535;AK127387;AK303404;AL832583;BC035312;BC110817;BM263181;CD242693;CH471202;DA956406;DB132733;DT220167;FY211499;NR_045128;NR_045129 AAH35312;AAI10818;AAK13476;AAK13477;BAC86953;BAG64458;CAD89940;EAW54665;EAW54666;EAW54667;Q9BZA4;Q9BZA5 Hs.522863 1685652;1690350;1694264;1694268;1694278;1694280;1694282;2113604;2188659;2188667;2188669;2189049;2189053;5017983;5022832;5095187;5095189 CYorf15A-1;CYorf15A-2;CYorf15A-3;CYorf15A-4;G42825;G42827;G42833;G42834;G42835;G65911;G65913;G66382;G66386;G66387;RH93589;RH93648;sY1322 CYorf15A;CYorf15B;DKFZp451G0616;FLJ33216;MGC131732;MGC21662 OTTHUMP00000035444;hypothetical protein LOC246126 APPROVED pseudo ENSG00000131002 18473 10618 400031;400032 VALIDATED 1347306 TXLNG taxilin gamma This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X p22.2 20923271 20981574 + 16714481 16770217 + 16804555 16862642 + 6480464 18068885;18029348;17081983;16964243;15911876;15184072;14702039;12477932;20936779;16344560;16831913;22939629;21903422;22082360;21139048;21890473;23000965 55787 Q9NUQ3 AA731379;ABBA01071465;ABBA01071466;ABBA01071467;ABBA01071468;ABBA01071469;ABBA01071470;ABBA01071471;ABBA01071472;ABBA01071473;ABBA01071474;ABBA01071475;ABBA01071476;AF143740;AK002071;AK090800;AK123142;AL929302;AMYH01022111;AMYH01022112;AW197225;AY739713;BC101572;BC101576;BX004861;CH471074;DA516680;DB098819;NG_016267;NM_001168683;NM_018360;U56251 AAF70546;AAI01573;AAI01577;AAW65982;BAA92068;EAW98918;NP_001162154;NP_060830;Q9NUQ3 Hs.555961 1677963;2112516;2168977 DXS8320;DXS9836;RH99226 CXorf15;ELRG;FIAT;FLJ11209;FLJ33481;LSR5;MGC126621;MGC126625 OTTHUMP00000022989;environmental LPS-responding;environmental lipopolysaccharide-responding gene protein;factor inhibiting ATF4-mediated transcription;factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription;gamma-taxilin;lipopolysaccharide specific response-5 protein;lipopolysaccharide-specific response protein 5 APPROVED protein-coding ENSG00000086712 18578 06478 300677 REVIEWED 1317484 TXLNB taxilin beta 6 6 6 q24.1 140301267 140353271 - 139602891 139654849 - 139561198 139613208 - 6480464 11256614;16381901;15489336;15489334;15184072;15082161;14702039;14574404;12477932;12372618;11230166;11076863;20379614;21903422 167838 H7BY59;Q8N3L3 AB085905;ABBA01025796;AF111704;AK056970;AK314725;AL158850;AL592434;AL831988;AL832322;AL834248;AMYH01016708;BC115383;BC115384;BX647477;BX647633;CH471051;NM_153235 AAI15384;AAI15385;AAM12420;BAC92688;BAG37268;CAD38617;CAD38924;CAD91140;CAI45977;CAI45978;CAL37662;CAL38285;CAL38724;EAW47896;EAW47897;EAW47898;EAW47899;NP_694967;Q8N3L3 Hs.535820 1735594;1786054;2120134;2146219 D6S1119E;D6S1140E;RH41974;SHGC-155547 C6orf198;DKFZp451A175;LST001;MDP77;RP3-522B19.2;dJ522B19.2 OTTHUMP00000017313;beta-taxilin;chromosome 6 open reading frame 198;hMDP77;muscle-derived protein 77 protein-coding ENSG00000164440 21617 10793 611438 VALIDATED 1603882 TXLNA taxilin alpha 1 1 p35.1 32417932 32436473 + 32645345 32663886 + 6480464 8327514;17353931;11256614;19038581;18645499;17015757;16710414;16381901;15489336;15489334;15184072;14743216;14702039;14623251;12558796;12477932;11230166;11076863;9110174;8755619;8619474;19663695;21042709;22939629;21551945;21903422;21139048;21890473;21906983;19322201;22053931;22785156;22797925 200081 A0AUK0;Q86YW3 ABBA01023437;ABBA01023438;AF070546;AF516206;AK096161;AK096939;AL049795;AL713662;AL832338;AL832636;AL832637;AMYH01000465;BC029686;BC046565;BC065263;BC080578;BC103823;BC103824;BC103825;CH471059;NM_175852 AAH29686;AAH46565;AAH80578;AAI03824;AAI03825;AAI03826;AAO42465;CAD89951;CAD89952;CAD91138;CAH10633;CAL38463;EAX07565;EAX07566;NP_787048;P40222 Hs.17987 1652391;1659579;1849274;2108013;2115637;2130298 A004Z24;DKFZp451J0118_8152;G06968;G09447;G28385;SHGC-74529 DKFZp451J0118;IL14;MGC118870;MGC118871;RP4-622L5.4;TXLN OTTHUMP00000004649;OTTHUMP00000004650;alpha-taxilin;interleukin 14 protein-coding ENSG00000084652 30685 09408 608676 VALIDATED 737462 TXN2 thioredoxin 2 This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008] 22 22 q13.1 35193039 35207633 - 36863093 36877687 - 70610;1580863;2306159;2306161;5133714;6480464;5685030 9006939;18045550;15039483;20571744;19128823 17939155;18029348;19165900;19135121;19124506;18977241;18497292;17634480;17601350;17548047;17220299;16868544;16424062;15489334;15461802;12477932;12080052;12032145;10591208;19570036;19885567;20819778;20877624;20929858;22939629;20706999;21988832;23485938;21158569;21327297;21800051;21557999;12938929;21890473;21726813 25828 F8WDN2;M0QXH0;Q99757 ABBA01055446;ABBA01055447;AF276920;AF480262;AK130187;AK301837;AL022313;AMYH01012752;BC013726;BC050610;CH471095;CR456601;CR541896;CR541917;NM_012473;U78678 AAB41631;AAF86467;AAH13726;AAH50610;AAN05576;ABM82505;ABM85698;ABM85970;BAG63281;CAG30487;CAG46694;CAG46715;CAK54632;CAK54931;EAW60103;EAW60104;NP_036605;Q99757 Hs.211929 1689021;1775168;1793060;1797008;2150943;5037552 D8S2279;PMC193924P2;RH68054;RH70707;RH75085;TXN2_1115 MT-TRX;MTRX;TRX2 OTTHUMP00000197895;OTTHUMP00000197898;mitochondrial thioredoxin;thioredoxin, mitochondrial;thioredoxin-2 APPROVED protein-coding 17772 07161 609063 REVIEWED 1348266 TXNDC11 thioredoxin domain containing 11 16 16 16 p13.13 11947285 12011000 - 11680444 11744149 - 11772943 11836648 - 6480464 15561711;15489334;14702039;12477932;9110174;8619474;16189514;16713569;21163940;21078624;21906983 51061 I3L0Q4;I3L1A5;I3L2Z6;Q6PKC3 ABBA01006830;AC007613;AF131780;AK027464;AK027646;AK297094;AMYH01007156;AMYH01007157;BC002856;BC013727;BC018635;BX648407;CH471112;CR457152;NM_015914 AAD20043;AAH02856;AAH13727;AAH18635;BAB55129;BAB55262;BAG59607;CAG33433;EAW85142;EAW85143;EAW85144;EAW85145;NP_056998;Q6PKC3 Hs.313847 1678431;1683455;1684518;1703250;1737549;1772977;1776416;1858231;2165371;2173599;5015961;5022578 D15S1477;D16S2658;D16S2934E;D16S3293;D1S1423;RH48960;RH64999;RH67776;RH91254;RH93664;SGC32077;SHGC-24019 EFP1 EF-hand binding protein 1;EF-hand-binding protein 1;thioredoxin domain-containing protein 11 protein-coding ENSG00000153066 28030 07125 PROVISIONAL 732441 TXN thioredoxin The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 9 9 q31 112046131 112058599 - 113006092 113018920 - 1580782;1580783;1580784;1580785;1580786;1580863;2306159;2306156;2306193;5133714;6480464;6484113;5685030 12870673;15694802;15749180;14677813;9714183;18045550;18578693;18701913;20571744;19128823 20218863;10814541;15480426;10947064;3170595;11517226;16750198;19337991;19135121;19124506;19120277;18983687;18977241;18976655;18848838;18579387;18544525;18497292;18457020;18384140;18209488;17982132;17972886;17949784;17917077;17896802;17823364;17724081;17652454;17651689;17634480;17606900;17601350;17574940;17557078;17369362;17360766;17316609;17220299;17115890;17113580;17045827;17007870;16966583;16916647;16868544;16766796;16712525;16492688;16424062;16311508;16263712;16207716;16115022;16097034;15894171;15723974;15507528;15494431;15489334;15128745;15096327;14730345;14703116;14695120;14688353;14644168;14503974;12882768;12878985;12816947;12804587;12660821;12529245;12477932;12244325;12189205;12119401;12099690;12089063;12029072;12008049;11972307;11841832;11778846;11751890;11118054;11012661;10982790;10585464;10419473;10397171;9915858;9564042;9464857;9433926;9369469;8805557;8736558;8049254;7922028;7821789;7788295;7601465;2785919;2684271;2176490;2001356;1998498;1874447;16507315;11323689;11298454;11689443;17353931;15824742;22248473;22516068;20955789;21526215;21319273;21145461;22134635;12244106;15234975;20298786;19913121;20485444;20536427;20619274;20628086;21212402;20423474;20847814;16458196;18420212;18835792;19208085;19328186;19385090;19540723;19566940;19592618;19601712;19620238;19671194;19681600;19690162;19723146;19773351;19799607;20074557;20103619;20379614;9108029;20929309;20347035;20430109;20172870;20877624;22977247;21324905;20661909;20662007;21030559;19558833;22933306;20385180;22760822;22939629;22863883;23105116;21705327;21353370;21963718;23238053;23398456;23402259;23455922;23485938;23747528;21636804;22867430;21158569;21557999;21908620;21800051;18781797;21139048;21704743;21890473;21906983;23319048;22492997;22882193;19471022;21250889;22384152;22447839;22505815;21620911;22430737;19561639;23223577;21150319;21642987;21988832;22810585;23000965;23133653;23246001;17331951;20943653;20974843;22053931;10843682;23068965 7295 H9ZYJ2;P10599 ABBA01042749;ABBA01042750;AF065241;AF085844;AF276919;AF313911;AF548001;AK289508;AL158158;AMYH01021626;AMYH01021627;AW160756;AY004872;BC003377;BC054866;BQ774337;BX647247;CH471105;CR407665;D28376;J04026;JQ313905;NM_001244938;NM_003329;X54539;X77584 AAA74596;AAC17430;AAF86466;AAF87085;AAG34699;AAH03377;AAH54866;AAN33187;AFH41799;BAA05742;BAF82197;CAA38410;CAA54687;CAG28593;EAW59059;EAW59060;NP_001231867;NP_003320;P10599 Hs.435136 1668131;1690700;1745043;1761293;5016820;5092378;5106813;5117354;5121523 D9S1707;G54088;GDB:512873;GDB:593240;RH70008;RH70912;RH71341;SHGC-145294;SHGC-35694 DKFZp686B1993;MGC61975;TRDX;TRX;TRX1 ADF;ATL-derived factor;OTTHUMP00000021892;OTTHUMP00000021893;SASP;TXN delta 3;surface-associated sulphydryl protein;thioredoxin;thioredoxin delta 3 APPROVED protein-coding ENSG00000136810 12435 01761 187700 REVIEWED 1312290 TXNDC15 thioredoxin domain containing 15 5 5 5 q31.1 130337761 130365637 + 134237359 134265222 + 134209460 134237323 + 6480464 12477932;18391951;14702039;12975309;12754519;8125298;21139048;21642008 79770 B4DS52;D6R962;D6RAV9;D6RB48;D6RBD9;H0Y928;H0Y997;Q7Z345;Q96J42 ABBA01068734;ABBA01068735;AC006077;AK026278;AK056512;AK092425;AK225454;AK225462;AK299578;AK307529;AMYH01015626;AY358649;BC001615;BC032568;BX538131;CH471062;NM_024715 AAH01615;AAH32568;AAQ89012;ACE86995;ACE87684;ADZ15917;BAB15427;BAB71199;BAG61514;CAD98032;EAW62231;EAW62232;EAW62233;NP_078991;Q96J42 Hs.741304 1655550;2115115;2143621;5015861;5016596;5022578;7185938 D10S16;D1S1423;GDB:631802;SGC32319;STS-W46271;STS-Z40855 C5orf14;FLJ22625;UNQ335 2310047H23Rik;OTTHUMP00000159377;OTTHUMP00000223117;disulfide isomerase;thioredoxin domain-containing protein 15 protein-coding ENSG00000113621 20652 08658 VALIDATED 1315553 TXNDC16 thioredoxin domain containing 16 14 14 14 q22.1 32764912 32886888 - 51967059 52088963 - 52897308 53019301 - 1580863;6480464 18029348;16344560;14702039;12477932;10718198;22419666;21359175 57544 B7ZME4;G3V2S5;H0YJI6;Q9P2K2 AB037765;ABBA01018165;AK022563;AK097748;AL157971;AMYH01005730;AMYH01005731;BC137081;BC137082;BC142650;BC144469;BC150205;BC152428;CH471078;DA231411;DB083799;NM_001160047;NM_020784 AAI37082;AAI37083;AAI42651;AAI44470;AAI50206;AAI52429;BAA92582;BAB14101;EAW65650;EAW65651;NP_001153519;NP_065835;Q9P2K2 Hs.532609 1656619;1756261;1766057;2147593 G35830;RH78442;SHGC-143165;SHGC-149440 ERp90;KIAA1344 OTTHUMP00000245094;thioredoxin domain-containing protein 16 protein-coding ENSG00000087301 19965 11140 VALIDATED 1606291 TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum) This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] 1 1 1 p32.3 50773286 50808524 - 52258391 52293635 - 52485803 52521843 - 6480464;6907045 19361226;18628206;16710414;16303743;15489334;15340161;14702039;14557066;12975309;12761212;12477932;9110174;8619474;22939629;17207965;19887585;20000738;16344560;20967262;12938929;21139048;22318606 51060 O95881 ABBA01074781;AF131758;AF543416;AK056169;AK075409;AL445685;AMYH01000618;AY358982;BC001493;BC008913;BC008953;CH471059;CS051213;DA277685;FY213077;NM_015913;NR_046405;NR_046406 AAD20035;AAH01493;AAH08913;AAH08953;AAN34781;AAQ89341;ADQ33144;BAG52132;CAI72102;EAX06800;NP_056997;O95881 Hs.476033 1666982;1846837;1846839;1846930;1846932;1854432;2109961;2136075 A001V29;A001V30;A004C17;G07351;G19689;G19690;HSC22E022;TLP19_9658 AG1;AGR1;ERP16;ERP18;ERP19;PDIA16;TLP19;hAG-1;hTLP19 ER protein 18;ER protein 19;OTTHUMP00000010300;anterior gradient homolog 1;endoplasmic reticulum protein ERp19;endoplasmic reticulum resident protein 18;endoplasmic reticulum resident protein 19;endoplasmic reticulum thioredoxin superfamily member, 18 kDa;hTLP19;protein disulfide isomerase family A, member 16;thioredoxin domain-containing protein 12;thioredoxin-like protein p19 APPROVED protein-coding ENSG00000117862 24626 11633 609448 REVIEWED 1345541 TXNDC8 thioredoxin domain containing 8 (spermatozoa) 9 9 9 q31.3 83567488 83601762 - 112105688 112139909 - 113065867 113100125 - 1303999;6480464 15181017 15164053;12477932 255220 A9Z1W9;B7ZME0;Q6A555 ABBA01042748;AF305830;AL158158;AMYH01021629;BC035743;BC130549;BC130551;BC144461;CH471105;NM_001003936 AAI30550;AAI30552;AAI44462;AAQ14501;ADR83471;EAW59061;NP_001003936;Q6A555 Hs.147064 1335834;1647712;1754653 D9S1675;SHGC-133007;SHGC-5895 SPTRX-3;TRX6;bA427L11.2 OTTHUMP00000021894;OTTHUMP00000215886;sperm-specific thioredoxin 3;spermatid-specific thioredoxin-3;spermatocyte/spermatid-specific thioredoxin-3;thioredoxin 6;thioredoxin domain-containing protein 8;thioredoxin-6 protein-coding ENSG00000204193 31454 18251 VALIDATED 4891982 TXNL1P1 thioredoxin-like 1 pseudogene 1 13 13 68218733 68219251 + 87377793 87378311 + 100419095 ABBA01027290;AL390731;AMYH01005266;NG_024942 pseudo 39459 INFERRED 1342505 TXNL3 thioredoxin-like 3 414229 23742 1352767 TXNDC9 thioredoxin domain containing 9 The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008] 2 2 2 q11.2 94140162 94157529 - 99301919 99319292 - 99935487 99952860 - 737633;6480464 12477932 16169070;16415341;15815621;15489334;15009089;8125298;22863883;22939629;22174782;21926972;21139048;21890473;21906983;23210642 10190 B8ZZX4;F8WBV5;F8WCJ3;G3XAJ4;O14530;Q8TB70 AB006679;AB451403;ABBA01073948;ABBA01073949;AC079447;AK222616;AK301722;AK313777;AMYH01010805;BC005968;BC022864;BC024223;BC070183;BG772935;BM553565;CH471127;CR456935;NM_005783 AAH05968;AAH22864;AAH24223;AAH70183;AAX93257;BAA21881;BAD96336;BAG36515;BAG70217;BAH13540;CAG33216;EAX01868;EAX01869;EAX01870;EAX01871;NP_005774;O14530 Hs.536122 1684844;1688322 RH93287;SHGC-67500 APACD;PHLP3 ATP binding protein associated with cell differentiation;ATP-binding protein associated with cell differentiation;OTTHUMP00000161221;OTTHUMP00000203480;OTTHUMP00000203481;protein 1-4;thioredoxin domain-containing protein 9 APPROVED protein-coding ENSG00000115514 24110 15592 612564 REVIEWED 1318890 TXNDC17 thioredoxin domain containing 17 17 17 17 p13.1 6565278 6568917 + 6484946 6488585 + 6544222 6547861 + 1580863;6480464 15355959;14607844;18579519;15489334;14607843;12477932;22939629;21044950;12938929;21139048;21890473;21906983;22505724 84817 I3L0K2;I3L2R6;I3L3M7;Q9BRA2 ABBA01054836;AC004706;AF086210;AJ344101;AK291963;AK311853;AMYH01008061;BC006405;BC050406;CA431010;CH471108;NM_032731 AAH06405;BAF84652;CAC51435;EAW90302;NP_116120;Q9BRA2 Hs.408236 1675868;1734416;2107733;2132181;2133445;2166253;5017238 D17S1392E;RH47146;RH64650;RH91775;SHGC-32950;STS-N30572;TXNL5__5171 MGC14353;TRP14;TXNL5 14 kDa thioredoxin-related protein;OTTHUMP00000128227;protein 42-9-9;thioredoxin (Trx)-related protein, 14 kDa;thioredoxin domain-containing protein 17;thioredoxin-like 5;thioredoxin-like protein 5 protein-coding ENSG00000129235 28218 11656 VALIDATED 1352753 TXNDC2 thioredoxin domain containing 2 (spermatozoa) 18 18 18 9769333 9771721 + 9875362 9878156 + 9885723 9888156 + 6480464 11399755;16344560;15489334;14702039;12477932;12387870;11737268;11230166;21375472;18029348;15174051;23284291 84203 E7EWV4;F5H6S7;J3QSG5;Q86VQ3 ABBA01049959;AC006238;AF080095;AK097656;AK303045;AL136742;AMYH01008806;BC050132;BI463874;BI831969;BM554364;CH471113;DB032859;DB037693;EF560747;HC007372;NM_001098529;NM_032243 AAH50132;AAK94950;ABQ59057;ACE86952;ACE87643;BAC05133;BAG64165;CAB66676;CBH19491;EAX01593;EAX01594;NP_001091999;NP_115619;Q86VQ3 Hs.98712 5016704 RH92269 DKFZp434H0311;MGC35026;SPTRX;SPTRX1 OTTHUMP00000162360;OTTHUMP00000162361;sperm-specific thioredoxin 1;spermatid-specific thioredoxin-1;sptrx-1;thioredoxin domain-containing 2 (spermatozoa);thioredoxin domain-containing protein 2 protein-coding ENSG00000168454 16470 11654 VALIDATED 1347193 TXNL4A thioredoxin-like 4A 18 18 18 q23 74505339 74521004 - 75833855 75849520 - 77732867 77748532 - 737633;6480464;6907045 12477932 10873650;10610776;17177886;16189514;15840814;15489334;12911302;11054566;11015569;12226669;18559850;19615732;20307692;22939629;21890473;20368287;23000965;16723661;22505724 10907 K7EJU2;K7EMX5;K7EPA6;K7ES07;K7ESL1;O14835;P83876 ABBA01013902;AC090360;AF023611;AF023612;AF146373;AK309098;AK314901;AMYH01009137;BC001046;BC019272;CH471117;NM_006701 AAB81950;AAB81951;AAF17332;AAH01046;AAH19272;ADZ15703;BAG37415;EAW66639;EAW66640;EAW66641;NP_006692;P83876 Hs.465498 1677975;1732035 D18S553;RH1664 DIB1;DIM1;HsT161;SNRNP15;TXNL4;U5-15kD DIM1 protein homolog;spliceosomal U5 snRNP-specific 15 kDa protein;thioredoxin-like 4;thioredoxin-like U5 snRNP protein U5-15kD;thioredoxin-like protein 4A protein-coding ENSG00000141759 30551 18252 611595 PROVISIONAL 1313292 TXNDC5 thioredoxin domain containing 5 (endoplasmic reticulum) This gene encodes a protein-disulfide isomerase. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream MUTED (muted homolog) gene. [provided by RefSeq, Dec 2010] 6 6 p24.3 7826749 8009596 - 7881483 7911047 - 1580863;6480464;6907045 21145461;16130169;19367581;17895523;16574106;15489334;14702039;14574404;12975309;12963716;12930873;12878160;12477932;20157732;11031247;11252894;19694819;19834535;19887585;19906073;20074551;21617212;21832049;22863883;22939629;23376096;21139048;21801346;21890473;21906983;22505402;23326410;23455922;23752268;22190034 81567 Q6EHZ3;Q86UY0;Q8NBS9 ABBA01022048;ABBA01022049;AJ440721;AK025006;AK075291;AK098089;AK315598;AL133541;AL833008;AL834423;AMYH01016064;AY326464;AY358646;BC001199;BC003529;BF726049;BU855393;CH471087;NM_001145549;NM_030810 AAH01199;AAQ89009;AAR99514;BAC11526;BAG37969;CAD29430;CAD39084;CAH56286;EAW55220;EAW55221;EAW55222;NP_001139021;NP_110437;Q8NBS9 Hs.150837 1649676;1654410;1680066;1852382;2151531;2160350;2175083 A002L04;AL021859;NIB594;RH26506;RH46813;SHGC-33534;WI-13193 ERP46;EndoPDI;FLJ21789;Hcc-2;MGC3178;PDIA15;STRF8;UNQ364 ER protein 46;OTTHUMP00000016005;OTTHUMP00000212222;endoplasmic reticulum protein ERp46;endoplasmic reticulum resident protein 46;endothelial protein disulphide isomerase;protein disulfide isomerase family A, member 15;thioredoxin domain-containing protein 5;thioredoxin related protein;thioredoxin-like protein p46 APPROVED protein-coding ENSG00000239264;ENSG00000259040 21073 18249 REVIEWED 1344635 TXNL4B thioredoxin-like 4B 16 16 16 q22.2 56432875 56442336 - 70676257 70685015 - 72118756 72128215 - 737633;1580863;6480464 12477932 16511018;16344560;16142897;15489334;15342556;15163659;15161931;14702039;11015569;8125298;17207965;19322201;16275660;21048991;22505724 54957 H3BN11;H3BQ09;H3BUL8;Q9NX01 ABBA01016797;AC009087;AK000518;AK222889;AK308891;AMYH01007795;AY566808;BC009646;BP355646;CD517462;CH471166;CR457240;DA499499;HC309810;NM_001142317;NM_001142318;NM_017853 AAH09646;AAS68520;ADQ32780;BAA91224;BAD96609;CAG33521;CBJ21212;EAW59191;EAW59192;NP_001135789;NP_001135790;NP_060323;Q9NX01 Hs.134406 1678095;1736596;1736618;2110783;2154486;5022200;5022651 D11S2921;D16S2593E;D16S2606E;D16S3235;L18426;RH64997;TXNL4B_9856 DLP;Dim2;FLJ20511 Dim1-like protein;OTTHUMP00000174933;thioredoxin-like protein 4B protein-coding ENSG00000140830 26041 11655 VALIDATED 1318088 TXNRD3 thioredoxin reductase 3 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. It contains a selenocysteine (Sec) residue (which is essential for catalytic activity), encoded by a UGA codon, at the penultimate C-terminal position. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 3 3 3 q21.3 124750511 124798259 - 127808585 127857746 - 126325895 126373967 - 1580863;6480464;6907045 10455115;18977241;17601350;12477932;11259642;21906983;22505724;12775843;20018845;22683372 114112 B4DRZ5;E5RJ58;H0YBI6;H0YBQ0;L7N487;Q86VQ6 ABBA01016386;AC024558;AC078867;AF133519;AF171055;AK299502;AMYH01013450;BC030028;BC050032;BQ929894;NM_001173513;NM_052883 AAD39929;AAD51325;AAH30028;AAH50032;BAG61457;NP_001166984;NP_443115;Q86VQ6 Hs.477475 1650596;2168473;2186164;2218126 G31568;SHGC-77314;STS-N36130;TXNRD3_3256 TGR;TR2;TRXR3 OTTHUMP00000222595;OTTHUMP00000222630;thioredoxin and glutathione reductase;thioredoxin glutathione reductase;thioredoxin reductase 2;thioredoxin reductase 3;thioredoxin reductase TR2 APPROVED protein-coding ENSG00000197763 20667 606235 REVIEWED 2796714 TXNRD3NB thioredoxin reductase 3 neighbor 3 3 3 q21.3 124715262 124752014 - 127773312 127810088 - 126290622 126327398 - 6480464 12477932;15588584;15674732 645840 Q6F5E7 AB113648;ABBA01016386;AC024558;AMYH01013450;BC130546;BC130548;NM_001039783 AAI30547;AAI30549;ADR82822;BAD26752;NP_001034872;Q6F5E7 Hs.477475 1650596;2186164;2218126 G31568;SHGC-77314;TXNRD3_3256 MGC163418;MGC163420;TR2IT1;TXNRD3IT1;TXNRD3NT1 TXNRD3 neighbor gene protein;protein TXNRD3NB;thioredoxin reductase 2 intronic transcript 1;thioredoxin reductase 3 intronic transcript 1;thioredoxin reductase 3 neighbor gene protein;thioredoxin reductase 3 new transcript 1 APPROVED protein-coding ENSG00000206483 33870 PROVISIONAL 1343574 TXNIP thioredoxin interacting protein 1 1 q21.1 144149939 144153882 + 145438462 145442635 + 1580789;1642749;1642760;1642758;1642750;1642753;1642756;2306193;6480464 16172122;17675577;12553030;15170812;17381501;15047687;15834431;18701913 15231748;14632196;19327827;19254690;19246513;19214472;19052253;19018770;18974842;18848838;18793170;18541147;18458340;18376310;18301748;18202760;17671698;17603038;17579352;17555594;17472435;16766796;16723126;16710414;16344560;16301999;15705778;15696199;15537450;15489334;15234975;15136067;15128745;14766217;12821938;12477932;12386145;12189205;12054598;11753387;11376942;10419473;9207062;8086474;21929372;21916829;22113441;19913121;20628086;10814541;18835792;19605364;19619006;19773351;19808645;19847012;20027290;20068034;20398702;20826751;20680488;20656682;21271679;20584310;20558747;20172870;21151022;20844768;21192937;21460850;21439723;21705327;21543874;21510938;21636804;21771725;21900206;21908621;22236479;22450549;23393387;23453806;23454121;21963094;22053931;23000965;19322201;18781797;21448924;21987572;21139048;21890473;21906983;22267843;22760822;23152583;23519408;21424732;22768160 10628 F6RIS4;Q9H3M7 AA805348;AB051901;ABBA01005745;AC243547;AF333001;AK226090;AK301148;AK301203;AK304670;AL138842;AL160282;AMYH01001373;AY594328;BC024305;BC093702;BC093704;BF446648;BX404012;BX537824;CH471244;DB058019;HY177853;JA222523;JA512684;NM_006472;S73591 AAB31977;AAH93702;AAH93704;AAK37514;AAT01927;BAB18859;BAG62739;BAG62780;BAG65445;CAI22351;CAI22352;CCA65310;CCD57098;EAW71410;EAW71411;NP_006463;Q9H3M7 Hs.533977;Hs.709057 1654862;1662201;1668029;1681340;1701672;1734200;1734394;1735664;1754703;1775677;2113682;2123324;2127478;2149155;2166314;2166943;5124331 A002O32;AB062986;Bda44g03;D1S1737E;D1S1756E;D1S1903E;D1S3326;RH104508;RH50354;RH64581;RH70140;RH98174;SHGC-133065;SHGC-63511;SHGC-63512;SHGC-75407;WI-20055 EST01027;HHCPA78;THIF;VDUP1 OTTHUMP00000015596;OTTHUMP00000015597;thioredoxin binding protein 2;thioredoxin-binding protein 2;thioredoxin-interacting protein;upregulated by 1,25-dihydroxyvitamin D-3;vitamin D3 up-regulated protein 1 protein-coding ENSG00000117289 16952 05964 606599 VALIDATED 1354026 TXNL1 thioredoxin-like 1 18 18 q21.31 52421051 52456874 - 54270053 54305920 - 1302267;1580863;6480464 9668102 18654987;19349280;19349277;17987124;16438969;16344560;16236267;16231315;15489334;14702039;12665801;12477932;11985582;10826702;9473519;20455272;16385451;18029348;19615732;22939629;22863883;16196087;21290163;19013454;19781552;18781797;21987572;21139048;21890473;21906983;22053931;22505724 9352 G3V1K0;K7EKG2;K7EME7;K7EML9;K7EPB7;K7ER96;O43396 AB209263;ABBA01056125;AC007052;AF003938;AF051896;AF052659;AF143897;AK094926;AK313653;AMYH01009021;AV750604;BC001156;CH471096;DA248363;NM_004786;NR_024546 AAC05830;AAC39599;AAC39898;AAF66676;AAH01156;ABM82772;ABM85960;ABW03441;BAD92500;BAG36407;BAG52957;EAW63034;EAW63035;EAW63036;NP_004777;O43396 Hs.114412 1699694;2140316;5106881 D18S1278;RH103452;RH15916 TRP32;TXL-1;TXNL;Txl 32 kDa thioredoxin-related protein;OTTHUMP00000163597;thioredoxin-like protein 1;thioredoxin-related 32 kDa protein;thioredoxin-related protein 1 protein-coding 12436 04335 603049 VALIDATED 1343264 TYRL tyrosinase-like (pseudogene) 11 11 11 p11.2 49576748 49587793 - 49390028 49394197 - 49426247 49437309 - 1580863 17355913;8234203;1903356 7300 Q9UMA1 ABBA01060667;AC118942;AC135977;AMYH01003570;M63240;M63241;NG_001529 AAA73001 1678023;1847356;2119613;2190379;2218128;7188805 D11S3987;D11S870-D11S1326;RH40020;RH69108;TYR_3880 pseudo 12443 191270 VALIDATED 1606823 TXNRD2 thioredoxin reductase 2 Thioredoxin reductase (TR) is a dimeric NADPH-dependent FAD containing enzyme that catalyzes the reduction of the active site disulfide of thioredoxin and other substrates. TR is a member of a family of pyridine nucleotide-disulfide oxidoreductases and is a key enzyme in the regulation of the intracellular redox environment. Three thioredoxin reductase genes have been found that encode selenocysteine containing proteins. This gene partially overlaps the COMT gene on chromosome 22. [provided by RefSeq, Jul 2008] 22 22 q11.21 18243040 18309359 - 19863040 19929359 - 5133714;6480464;6907045;5685030 20571744;19128823 21172426;10455115;10215850;19124506;19035188;18996102;18977241;17634480;17601350;17395017;16868544;16774913;16424062;16298692;15489334;14702039;12705894;12530083;12477932;12374691;11060283;11012661;10608886;10591208;9923614;11158331;12612084;11463857;15694360;19913121;20602615;20628086;15598662;18029348;19595745;19617637;19692168;19896490;20178852;20378690;15625236;18978041;20877624;20965815;20413580;21247928;22922875;23063346;22683372;22505724 10587 D3YTF8;D3YTF9;E7ENA2;E7EWK1;F5H1L4;F5H2V0;Q9UQU8 AB019694;AB019695;AB209724;ABBA01005400;ABBA01005401;ABBA01005402;ABBA01005403;AC000078;AC000090;AF044212;AF106697;AF166126;AF166127;AF171054;AF201385;AK094698;AK097708;AMYH01012482;BC007489;BC032029;BC038708;BC099923;BC117354;BX957216;CR749428;NG_011835;NM_006440 AAD19597;AAD25167;AAD51324;AAF21431;AAF21432;AAG47635;AAH07489;AAH99923;AAI17355;BAA77601;BAA77602;BAD92961;BAG53517;CAF29507;CAH18266;NP_006431;Q9NNW7 Hs.443430 1645231;1688773;1797012;2185995;5037552 D8S2279;RH47909;RH80249;SHGC-58266;TXNRD2_1117 SELZ;TR;TR-BETA;TR3;TRXR2 OTTHUMP00000195708;OTTHUMP00000195709;OTTHUMP00000195711;OTTHUMP00000195713;selenoprotein Z;thioredoxin reductase 2, mitochondrial;thioredoxin reductase 3;thioredoxin reductase TR3;thioredoxin reductase beta APPROVED protein-coding ENSG00000184470 18155 05921;18519 606448 REVIEWED 1345332 TYRO3P TYRO3P protein tyrosine kinase pseudogene 15 15 15 q24.2 53477852 53478715 - 74338685 74339548 - 76551630 76552493 - 8262388;7851890 7302 ABBA01060549;AC027243;AMYH01006821;NG_007077;NR_028510;X72887 Hs.684881 pseudo 12447 VALIDATED 732119 TXNRD1 thioredoxin reductase 1 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein reduces thioredoxins as well as other substrates, and plays a role in selenium metabolism and protection against oxidative stress. The functional enzyme is thought to be a homodimer which uses FAD as a cofactor. Each subunit contains a selenocysteine (Sec) residue which is required for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenocysteine-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in several transcript variants encoding the same or different isoforms. [provided by RefSeq, Jul 2008] 12 12 q23-q24.1 103133689 103268192 + 104609557 104744085 + 1580529;5133714;5134341;5133729;5685028;5685032;6480464;6907045;5685030 15183196;20571744;18515646;19833109;19409971;18996185;19128823 21172426;16750198;9671710;8921404;19124506;19059456;19020731;18977241;18835810;18483336;18382651;18267104;18187038;18163424;18042542;17634480;17601350;17512005;17382897;16977661;16868544;16481328;16424062;15879598;15824742;15592455;15489334;15199063;15123685;14980707;14676218;14607844;13679440;12968334;12949356;12668662;12574159;12477932;12435734;12214272;11953436;11782468;11737861;11410332;11375392;10786696;10432307;9774665;9207062;9177183;8999974;8650234;8577704;8554614;7589432;2064786;10383413;16169070;23223577;20536427;18029348;20877624;19555664;19595745;19620238;19654027;19766715;19820694;19896490;20160040;20920480;20584310;22939629;22977247;21206984;22863883;23106098;21593104;11353774;21139048;21693764;21890473;21906983;21963094;19322201;16344560;16009940;21988832;23000965;23063346;23413027;16815975;22053931;22230366;22505724 7296 B2R5P6;B7Z1F4;B7Z2S5;B7Z904;E2QRB9;E7ESI6;E7EW10;E9PIR7;E9PIZ5;E9PJU2;E9PKD3;E9PKI4;E9PLT3;E9PMY9;E9PNQ6;E9PQI3;E9PRI8;F5H780;Q9UES8 ABBA01053196;ABBA01053197;ABBA01053198;ABBA01053199;ABBA01053200;ABBA01053201;ABBA01053202;ABBA01053203;ABBA01053204;ABBA01053205;ABBA01053206;ABBA01053207;ABBA01053208;AC089983;AC090107;AF077367;AF208018;AI097548;AJ001050;AK128515;AK129977;AK226071;AK293322;AK295067;AK296495;AK304241;AK308881;AK312262;AL701549;AMYH01004711;AMYH01004712;AMYH01004713;AMYH01004714;AY057105;AY344074;AY344077;AY344081;AY344083;AY344084;AY344086;AY344087;AY344089;AY344092;AY344093;AY344095;AY344096;AY344670;AY344673;AY344675;AY344679;BC018122;BC042974;BG772375;BT019640;CH471054;CR536506;D88687;DA238692;DA319870;DA440625;DC351122;DC400503;DC401138;DC418649;DQ157758;NG_029392;NM_001093771;NM_001261445;NM_001261446;NM_003330;NM_182729;NM_182742;NM_182743;S79851;X91247 AAB35418;AAC69621;AAF15900;AAH18122;AAL15432;AAQ62461;AAQ62462;AAQ62463;AAQ62464;AAQ62465;AAQ62466;AAQ62467;AAQ62468;AAQ62469;AAQ62470;AAQ62471;AAQ62472;AAQ62473;AAV38446;AAZ67916;BAA13674;BAC87474;BAG35193;BAH11490;BAH11961;BAH12374;BAH14140;CAA04503;CAA62629;CAG38744;EAW97743;EAW97744;EAW97745;NP_001087240;NP_001248374;NP_001248375;NP_003321;NP_877393;NP_877419;NP_877420;Q16881 Hs.654922 1657463;1663089;1688255;1700570;1797010;5019655;5022322;5022651 D11S2560;D11S2921;G32358;RH103907;RH67044;RH69996;SGC32111;TXNRD1__1216 GRIM-12;MGC9145;TR;TR1;TRXR1;TXNR KM-102-derived reductase-like factor;OTTHUMP00000232986;OTTHUMP00000232988;OTTHUMP00000232990;OTTHUMP00000232992;OTTHUMP00000232993;OTTHUMP00000232996;OTTHUMP00000232997;OTTHUMP00000232999;gene associated with retinoic and IFN-induced mortality 12 protein;gene associated with retinoic and interferon-induced mortality 12 protein;oxidoreductase;thioredoxin reductase 1, cytoplasmic;thioredoxin reductase GRIM-12;thioredoxin reductase TR1 APPROVED protein-coding ENSG00000198431 12437 03068 601112 REVIEWED 1316192 TYK2 tyrosine kinase 2 This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008] 19 19 p13.2 10322209 10352211 - 10461204 10491248 - 1580863;1625126;1357942;1357935;5686839;6478796;5688379;6480464;6484113;6907045;7240710 17312100;12884916;12039028;21881215;9314843;21115385 22486643;21833088;22087225;22744673;10502458;2216457;18029348;19434718;19293837;19258923;19249008;18474601;18456658;18270328;17937105;17920038;17877826;17703412;17599733;17548050;17384181;17011030;16551269;16344560;16239216;15944400;15883164;15657875;15489334;14500680;12960323;12719789;12554654;12477932;11430697;11399767;10995743;10933219;10899310;10673353;10542297;10531356;10409622;9822675;9733772;9633884;9519782;9388212;9374471;9342324;9305869;9196040;9108397;8780698;8702790;8550573;8432525;8125298;7629131;7589562;7579387;7526154;2247464;2156206;1386289;11694501;10954736;9417082;15277531;9038232;20588308;20628624;10918587;11201744;11294897;11839738;12637327;12817007;15322115;17290288;19254804;19423540;19440814;19464057;19525955;19567624;19653082;19717292;19730683;19758313;19865102;19888296;19966805;20065083;20197570;20406964;20438785;20503287;7543024;7657660;7690989;8605877;8657151;9484840;9974409;20727854;15337770;21102463;7510216;20478313;20953190;21178271;21354972;21196586;8609418;15356134;21140222;21757742;21139048;21906983;22961000;21471442;21900206;21949722;22046141;22116632;12207328;23000200;22592861;21829393;22939624;23000965;23359498;23128233;22506826 7297 E9PM19;E9PPF2;E9PQE9;E9PQL2;E9PQM4;H0YCT7;H0YE24;H0YE41;K7EJR6;K7EM33;K7EP98;P29597 ABBA01029932;ABBA01029933;ABBA01029934;AC011557;AK222672;AK303627;AK308360;AK308379;AMYH01009471;AMYH01009472;AY549314;BC014243;CH471106;CR995139;DA864169;NG_007872;NM_003331;X54637 AAH14243;AAS37680;ABM83618;ABM86881;BAD96392;BAG64635;CAA38449;EAW84099;EAW84100;NP_003322;P29597 Hs.75516 1665030;2108621;2157391;2160742 RH70299;STS-X54637;TYK2_8702;WI-7649 JTK1 OTTHUMP00000232745;OTTHUMP00000232746;OTTHUMP00000232748;non-receptor tyrosine-protein kinase TYK2 APPROVED protein-coding ENSG00000105397 12440 01490 176941;611521 REVIEWED 1344016 TYS sclerotylosis 7240710 7303 1335833;1340020;7184030 D4S1544;D4S2966 12452 1346000 TYR tyrosinase The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008] 11 11 q14.3 88550688 88668575 + 88911040 89028927 + 1599686;1599687;1580863;6480464;6907045;7240710 1642278;15760344 11092760;7704033;10823941;19384953;19360691;19342661;19340012;19320745;19208379;19060277;18845991;18821858;18791269;18701257;18676680;18636124;18563784;18488027;18478240;18463683;18457359;18425346;18390556;18337837;18326704;18296661;18181974;17999355;17952075;17850513;17766092;17718595;17516931;17496783;17496782;17265558;17200659;17081065;16907708;16737954;16565383;22088535;22561518;16447258;16417222;16272362;16056219;15958486;15885985;15854130;15838343;15677452;15635296;15489334;15381243;15210908;15146472;14634018;14623273;12925214;12817591;12727022;12710945;12643545;12579416;12565907;12519123;12477932;12028586;11858948;11812790;11720436;11710942;11532853;11295837;11214319;11153699;10987646;10766867;10671066;10571953;10094567;9259202;9158138;8889548;8644824;8477259;8340755;8234203;8128955;8040609;7955413;7902671;5516239;3146546;2854305;2823263;2567165;16517127;16477373;2511845;2504160;2499655;2480811;2342539;2120217;2113511;1970634;1943686;1905879;1903591;1903356;1900309;1900307;1899321;1832718;1711223;1487241;666627;15716956;20585627;20588308;19170196;19336006;19578364;19625176;19626598;19692168;19710684;19865097;20006830;20083666;20410501;20447099;16162817;20861851;20301345;20861488;20426782;21197618;22402439;22898827;22895365;22097729;23085273;23548203;21541274;21199683;23165166;22042571;21906913;22447455;21983787;22259223;22294196;22531911;23242301;23326517;22464347 7299 L8B082;P14679;Q9UMA2 AB775899;AB775900;AB775901;ABBA01011523;ABBA01011524;ABBA01011525;AF237811;AMYH01003868;AP000720;AY012019;BC027179;BU736025;CH471185;J03581;M27160;M63239;M74314;NG_008748;NM_000372;S66645;S66648;U01873;X16073;Y00819 AAA61241;AAA61242;AAA61244;AAB37227;AAB60319;AAD13984;AAD13985;AAG38762;AAH27179;AAK00805;BAM75356;BAM75357;BAM75358;CAA34205;CAA68756;EAW59356;EAW59357;NP_000363;P14679 Hs.503555 1678023;1688616;1740929;1741003;1741095;1741535;1741927;1742589;1743435;1745751;1778342;1791776;1847356;2113982;2119613;2167849;2190379;2191633;2218128;7186994;7188805 D11S2042;D11S3987;D11S870-D11S1326;G15819;GDB:176315;GDB:177333;GDB:177754;GDB:181433;GDB:186844;GDB:197911;GDB:320031;GDB:635861;MARC_31609-31610:1062097014:1;PMC125271P1;RH40016;RH40020;RH69108;TYR;TYR_3880 CMM8;OCA1A;OCAIA;SHEP3 LB24-AB;OTTHUMP00000235653;SK29-AB;monophenol monooxygenase;oculocutaneous albinism IA;tumor rejection antigen AB;tyrosinase APPROVED protein-coding ENSG00000077498 12442 06086 103470;203100;601800;606933;606952 REVIEWED 1313979 TYMP thymidine phosphorylase This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012] 22 22 q13.33 49311047 49315321 - 50964181 50968514 - 1580863;1601000;2293715;2293718;2293723;2293721;2293727;2293724;2293725;2293714;2293716;2293726;2293720;2293717;2293719;2293722;2325155;2325158;2325156;2325157;2325027;6480464;6907045;7240710 9924029;18348659;16854285;12614261;15628771;12556409;10886088;10685502;18441329;16937303;9306962;15841086;16861722;16803522;15262124;19760965;10760693;19671868;18946757 18986516;2005900;2328255;18029348;19344718;19330019;19295266;19093516;19056268;19023133;18955007;18922971;18848756;18765464;18725595;18559600;18359286;18341568;18019682;17999375;17923735;17854149;17688376;17681069;17497037;17437622;17103175;16969493;16803458;16798057;16685420;16458893;16369467;16317434;16198108;16132996;15978330;15879300;15781193;15756433;15756429;15607208;15571282;15571260;15571233;15489334;15474072;15375582;15374822;15289834;15254700;15201953;15123637;15069545;14966914;14719072;14702180;14702039;14571777;12918063;12824363;12820387;12813027;12684660;12639965;12565868;12520153;12477932;12466967;12429983;12177387;12174926;11992400;11986782;11957147;11925935;11920479;11733540;11297264;11041061;10493829;10472757;9857235;9626068;8889548;8164833;8125298;8038210;3549724;2823522;2467210;1733667;1590793;1570012;1400349;19913121;20628086;21386840;19555658;19654105;19862010;20112501;20488166;20355241;20372793;20139978;20843780;20301358;20837458;21222488;20585803;18476626;20955617;21068389;21837996;22618301;20714877;21252618;21362301;21586171;21809665;22863883;20360068;22534375;23160694;22321252;22610353;22340655;22593457;22595739;16341674;22752215;23222517;22480737;22668509;22751949 1890 B2RBL3;C9JGI3;E5KRG5;P19971 ABBA01042625;AK057214;AK225269;AK298691;AK301194;AK314716;AMYH01012916;BC018160;BC052211;BF338223;BJ995731;BM727471;BM744178;CH471138;HQ205666;HQ205667;HQ205668;HQ205669;HQ205670;HQ205671;HQ205672;HQ205673;HQ205674;HQ205675;HQ205676;HQ205677;HQ205678;HQ205679;HQ205680;HQ205681;HQ205682;HQ205683;HQ205684;HQ205685;HQ205686;HQ205687;HQ205688;HQ205689;HQ205690;HQ205691;HQ205692;HQ205693;HQ205694;HQ205695;HQ205696;HQ205697;HQ205698;HQ205699;HQ205700;HQ205701;HQ205702;HQ205703;HQ205704;HQ205705;M58602;M63193;NG_011860;NG_016235;NM_001113755;NM_001113756;NM_001257988;NM_001257989;NM_001953;U62317 AAA60043;AAB03344;AAH18160;AAH52211;ABM82382;ABM85560;ADP91494;ADP91495;ADP91496;ADP91497;ADP91498;ADP91499;ADP91500;ADP91501;ADP91502;ADP91503;ADP91504;ADP91505;ADP91506;ADP91507;ADP91508;ADP91509;ADP91510;ADP91511;ADP91512;ADP91513;ADP91514;ADP91515;ADP91516;ADP91517;ADP91518;ADP91519;ADP91520;ADP91521;ADP91522;ADP91523;ADP91524;ADP91525;ADP91526;ADP91527;ADP91528;ADP91529;ADP91530;ADP91531;ADP91532;ADP91533;BAG37260;BAG51886;BAG60851;BAG62774;EAW73560;EAW73561;EAW73562;EAW73563;EAW73564;NP_001107227;NP_001107228;NP_001244917;NP_001244918;NP_001944;P19971 Hs.180903 1744375;1747339;2155787;5014063 D15S1390;G65460;GDB:452618;UniSTS:50701 ECGF;ECGF1;MEDPS1;MNGIE;MTDPS1;PDECGF;TP;hPD-ECGF OTTHUMP00000196766;OTTHUMP00000196767;OTTHUMP00000196768;OTTHUMP00000196769;OTTHUMP00000196770;gliostatin;tdRPase;thymidine phosphorylase APPROVED protein-coding ENSG00000025708 3148 08833 131222;603041 REVIEWED 5132397 TYW1P1 tRNA-yW synthesizing protein 1 homolog pseudogene 1 2 33342331 33344173 + 100533847 ABBA01074905;AL133244;AMYH01010239;NG_028887 pseudo 41905 INFERRED 1316504 TYSND1 trypsin domain containing 1 This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013] 10 10 10 q22.1 65176845 65185592 - 71567739 71576502 - 71897733 71906496 - 737633;6480464 12477932 17255948;14702039;16385451;19615732;20379614;22002062;12107412;16128611;16344560;22190034 219743 Q2T9J0 ABBA01019619;AK074968;AK097697;AL731540;AMYH01002811;BC016840;BC030242;BC042629;BC047424;BC111501;BI829894;CD671353;CH471083;CV805418;DA334145;DA434127;HY013216;NM_001040273;NM_173555;NR_073580;NR_073581;NR_073582;NR_073591;NR_073592;NR_073593;NR_073594;NR_073595 AAH16840;AAH30242;AAI11502;EAW54375;EAW54377;NP_001035363;NP_775826;Q2T9J0 Hs.533655 1658330;1769324;2114240;2161760 D10S1348E;D10S1466;SGC31274;SHGC-30458 FLJ40378;MGC131934;MGC34695;NET41 OTTHUMP00000019737;OTTHUMP00000019738;peroxisomal leader peptide-processing protease;trypsin domain-containing protein 1 APPROVED protein-coding ENSG00000156521 28531 15593 611017 REVIEWED 736404 TYRO3 TYRO3 protein tyrosine kinase The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010] 15 15 q15 39638524 39658818 + 41851220 41871536 + 1580531;1580534;1580863;6480464 15733062;10627473 7511603;8108112;18620092;18029348;17005688;15964779;15489334;14702039;14623883;12768229;12477932;9175267;8939948;8641360;8621659;8262388;8108143;7857658;7537495;20664904;19805117;20637106;20348395;20098747;20546121;21343401;21384080;21163940;22939629;7634325;22119469;21139048;21496228;21890473;22156524;20467438;21963094;22939624;23570341;21145461;22889411 7301 H0YKZ2;H0YN24;H0YNK6;H3BPR7;Q06418 AB209431;ABBA01038400;ABBA01038401;AC016134;AK022124;AK131389;AK295496;AMYH01006575;BC029925;BC034960;BC049368;BC051756;CH471125;D17517;D26146;D50479;DB483422;NG_033013;NM_006293;U02566;U05682;X72886 AAA17407;AAA19236;AAH29925;AAH49368;AAH51756;BAA04467;BAA05134;BAA21781;BAD92668;BAG58416;CAA51396;EAW92506;EAW92507;EAW92508;NP_006284;Q06418 Hs.381282 1758707;2107735;2114424;2127487;2149988;2174357;2183511;5015961;5022322;5037552 D11S2560;D15S1348;D15S1477;D8S2279;L29966;SHGC-149210;TYRO3__5172;WI-11946;WI-18782;WI-20018 BYK;Brt;Dtk;FLJ16467;RSE;Sky;Tif OTTHUMP00000160861;tyro3 protein tyrosine kinase 3;tyrosine-protein kinase DTK;tyrosine-protein kinase RSE;tyrosine-protein kinase SKY;tyrosine-protein kinase TIF;tyrosine-protein kinase byk;tyrosine-protein kinase receptor TYRO3 APPROVED protein-coding ENSG00000092445 12446 02641 600341 REVIEWED 1351113 TYROBP TYRO protein tyrosine kinase binding protein This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010] 19 19 q13.1 41087143 41091026 - 36395303 36399211 - 1580863;6480464;7240710 17012248;9490415;19075187;19019460;17530208;17277102;17202323;17125796;17100880;16505336;16339517;16206234;15557162;15489334;15356118;14707061;12925681;12591902;12569153;12477932;12426565;12426564;12370476;12207350;12080485;11922939;11169398;10940905;10888890;10799849;10604985;10449773;10201920;10049942;9828133;9655483;9463329;8889548;20628624;15342556;16715077;17301953;19120482;19606219;20212065;20421649;20301376;21263069;21841309;21421043;21967868;9830044;22080356 7305 K7EKK0;K7ES93;O43914 ABBA01018772;AD000833;AD000864;AF019562;AF019563;AJ010098;AK290385;AMYH01009736;AY074782;BC011175;BI908458;BP295666;BP302545;BP305672;BQ576278;BT009851;CR450342;CR542202;NG_009304;NM_001173514;NM_001173515;NM_003332;NM_198125;NR_033390 AAD09436;AAD09437;AAH11175;AAL74017;AAP88853;ABM82018;ABM85200;BAF83074;CAB52288;CAG29338;CAG46999;NP_001166985;NP_001166986;NP_003323;NP_937758;O43914 Hs.515369 1739661;2139518;5092814 A006G29;D19S844E;G32347 DAP12;KARAP;PLOSL DNAX-activation protein 12;KAR-associated protein;TYRO protein tyrosine kinase-binding protein;killer activating receptor associated protein;killer-activating receptor-associated protein APPROVED protein-coding ENSG00000011600 12449 04996 221770;604142 REVIEWED 1351708 TYRP1 tyrosinase-related protein 1 This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009] 9 9 p23 12683449 12700258 + 12693386 12710266 + 1599692;1580863;6480464;6907045;7240710 8651291 21324755;18029348;19384953;19287070;19240061;19060277;18680187;18563784;18488028;18488027;18463683;18326704;18312627;17766092;17200659;17081065;17071589;16934245;16704458;16344560;15996218;15489334;14634018;14623273;12766061;12643545;12519123;12477932;12011806;11775055;11441007;10952393;9872531;9447965;9434945;9345097;8530077;8040609;7881448;2324688;2111010;1945866;1906272;1769662;1693779;1673236;1577487;1575733;1321344;19913121;20585627;20628086;19710684;19865097;20221248;19841138;20668223;20861488;21291857;22898827;23548203;22556244;22045183;21996312;21739261;22447455;23519055;23190901;16354686;22190034 7306 C9JZ52;E7EQI3;P17643;Q5W0M5 ABBA01065320;ABBA01065321;AF001295;AK297887;AL138753;AL600654;AMYH01019230;AY395736;BC052608;CD679533;CH471071;CR407683;D83059;DA278582;L33830;L38952;NG_011705;NM_000550;X51420;X51455;X60955 AAC15468;AAC41924;AAH52608;AAR01256;BAA11759;BAG60208;CAA35785;CAA35820;CAA43288;CAG28611;EAW58709;EAW58710;EAW58711;EAW58712;NP_000541;P17643 Hs.270279 1651023;1654190;1694894;1741663;1744745;2139894;2156796;2182267 D9S1701;G44332;GDB:181637;GDB:555709;RH18096;RH48698;RH69255;RH69338 CAS2;CATB;GP75;OCA3;SHEP11;TRP;TRP1;TYRP;b-PROTEIN 5,6-dihydroxyindole-2-carboxylic acid oxidase;DHICA oxidase;OTTHUMP00000022788;OTTHUMP00000022789;TRP-1;TRP1;catalase B;glycoprotein 75;melanoma antigen gp75 APPROVED protein-coding ENSG00000107165 12450 00283 115501;203290;612271 REVIEWED 732334 TYMS thymidylate synthetase Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. [provided by RefSeq, Jul 2008] 18 18 p11.32 647651 663492 + 657604 673499 + 1580863;1545055;1300048;2315839;2317413;2317418;5133433;5133431;5133430;6480464;6907045;7242561 9894005;9635926;10226549;10523711;11554613;17848948;22332074 2656695;15504738;2987839;16079077;19493349;19460136;19427504;19426394;19384296;19374805;19339911;19339270;19332728;19307503;19295264;19190136;19162321;19161160;19159907;19154585;19147506;19082493;19074750;19064578;19048631;19020767;19020759;19020309;18992148;18990369;18989779;18988749;18985814;18983896;18976010;18855534;18830263;18785313;18728661;18722050;18704422;18677108;18676755;18676680;18669903;18642643;18636124;18635682;18629514;18607581;18600534;18597678;18593893;18589584;18584349;18540691;18510611;18505590;18498133;18458991;18448328;18430179;18427977;18406541;18381794;18370400;18365142;18336674;18322994;18299612;18285546;18281538;18274813;18267032;18245544;18221821;18203297;18192902;18177869;18174236;18098291;18095031;17971770;17891500;17854149;17716232;17688376;17684476;17684410;17661145;17659576;17655928;17596206;17581305;17551301;17549369;17546637;17512053;17454638;17449906;17439323;17417073;17410198;17395259;17385677;17377791;17372271;17369151;17367411;17317154;17311259;17290389;17273745;17220568;17203168;17201138;17187508;17181924;17065089;17018589;17000685;16929515;16920564;16773218;16723031;16722845;16675565;16622263;16617381;16609021;16596248;16580699;16575011;16467096;16456808;16447238;16424979;16365025;16334126;16333305;16328315;16328059;16317430;16284371;16259621;16242255;16234002;16219137;16188144;16182121;16162288;16141798;16132996;16130010;16077970;16051637;16045580;16030402;15999119;15993511;15985285;15953655;15930032;15817609;15797993;15788669;15736425;15735113;15713801;15682292;15677700;15598787;15585623;15579479;15571283;15571263;15571262;15510613;15489334;15459215;15457444;15386371;15386366;15355920;15316940;15284183;15260847;15259039;15251465;15244514;15213713;15198953;15161716;15115918;15093541;14977639;14970324;14967037;14760062;14745930;14702180;14656021;14586640;14578129;14576935;14519641;14519634;12972956;12907731;12859954;12845668;12782596;12706868;12684695;12640689;12604405;12576452;12576451;12530000;12477932;12466474;12239455;12220503;12215845;12147691;12084462;12084461;12084460;12084459;12084458;12067974;12018454;11992400;11989786;11937185;11804689;11747337;11697906;11445856;11329255;11316879;11278511;11251164;11251009;11102983;9148948;8845352;8449516;8125298;3839505;2532645;2243092;1720706;11799066;15897576;19898266;22551903;20651387;21254360;19913121;20530282;20565774;20570913;20571234;20580582;20615890;20628086;20628382;20628391;20634891;20638924;20647221;20665215;20670920;20714149;20819423;19170196;19306093;19444465;19513514;19546880;19568409;19571608;19619240;19621386;19625176;19632929;19636001;19651439;19672780;19692168;19722231;19724871;19748501;19750576;19751277;19774638;19822515;19837268;19850635;19858398;19858780;19885596;19888426;19917450;19956635;19998340;20047592;20101025;20112501;20122156;20151707;20165956;20177420;20180013;20216541;20235210;20237949;20306339;20310006;20331623;20368715;20371218;20372856;20381446;20385995;20447923;20453000;20458436;20504250;20515563;20531375;20544798;20448332;21131780;20734048;20737570;20815815;20824655;20932673;20962453;20966539;21036767;21048041;21057378;20012317;20372850;22172489;22388795;22486600;22580655;22593457;22641663;20647341;20837458;21043562;21362378;15952572;20061047;21064161;21245530;20387074;20944490;22006578;22143355;21206062;22863883;20714877;22397721;22407825;22895141;22901148;22939629;22938428;21269855;21282454;21463130;21111509;22763757;21824439;20501373;20970877;21262916;21730794;19471022;21139048;21167658;21460376;21570215;21811101;21848426;21890473;21906983;21963094;21471424;21550658;21716147;18781797;21987572;21947036;21603981;21919605;21321092;21605004;21965773;21347782;21900206;22819905;23148637;22882943;21188629;22110208;21618517;21643952;22233820;22270332;22384047;22496803;22502681;23098521;19738201;21788964;22623428;22713864;23000965;21948461;21956592;23336575;23645741;22074251;22166040;22307944;22505724;22576918;22825513;22887475;23217244;22866924 7298 P04818;Q53Y97;Q8WYK3;Q8WYK4 AB062290;AB077207;AB077208;ABBA01049816;ABBA01049817;AK223372;AK292620;AK314140;AMYH01008773;AP001178;BC002567;BC013919;BC018858;BC083512;BT006811;CH471113;D00517;D00596;NG_028255;NM_001071;X02308 AAH02567;AAH13919;AAH83512;AAP35457;ABM83075;BAA00404;BAA00472;BAB83676;BAB83677;BAB93473;BAD97092;BAF85309;BAG36830;CAA26178;EAX01716;EAX01717;EAX01718;EAX01719;EAX01720;EAX01721;EAX01722;NP_001062;P04818 Hs.369762 1646236;1658975;1669735;1674810;1681738;1741603;1742961;1797014;1848893;1848895;1853432;5093726 A009V35;D18S1240;D18S1296;D18S1308;G32887;GDB:181558;GDB:217066;RH11010;RH79165;RH93239;STS-X67098;TYMS_1340 HST422;MGC88736;TMS;TS OTTHUMP00000162195;TSase;thymidylate synthase APPROVED protein-coding ENSG00000176890 12441 01774 188350 REVIEWED 1345301 TYW1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. [provided by RefSeq, Dec 2012] 7 7 7 q11.21 65404719 65654392 - 66099252 66341934 + 66461817 66704499 + 737633;1580863;6480464 12477932 17150819;16162496;15489334;14702039;12853948;19322201;20379614;19850743;21890473;21906983;22505724 55253 C9J9Q4;Q9NV66 ABBA01048943;ABBA01048944;ABBA01048945;ABBA01048946;ABBA01048947;ABBA01048948;ABBA01048949;ABBA01048950;ABBA01048951;ABBA01048952;ABBA01048953;ABBA01048954;ABBA01048955;ABBA01048956;ABBA01048957;AC006480;AC073089;AC079920;AK001762;AK022917;AK301330;AMYH01017493;AMYH01017494;AMYH01017495;AMYH01017496;AMYH01017497;BC015591;BC042156;BC051888;CH471140;NG_033069;NM_018264 AAH15591;AAH42156;AAH51888;AAS07520;AAS07568;BAA91891;BAB14307;BAG62878;EAX07903;EAX07904;EAX07905;NP_060734;Q9NV66 Hs.520917 1648680;1673868;1675987;1679834;1684612;1725721;1728307;1762339;1767957;1790405;1849150;1854693;1855328;2142138;2142902;2155963;2160321;2165296;2169758;7186552 D7S1912;D7S2466;D7S2695;D7S2729;D7S2908;D7S3264;G20747;G62119;G63435;GDB:1234300;GDB:1317572;GDB:1317742;RH12723;RH17204;RH36140;RH67814;RH79720;SHGC-146181;SHGC-8963 FLJ10900;MGC23001;MGC60291;RSAFD1;TYW1A;YPL207W OTTHUMP00000160137;radical S-adenosyl methionine and flavodoxin domain-containing protein 1;tRNA wybutosine-synthesizing protein 1 homolog;tRNA-yW synthesizing protein 1 homolog A;tRNA-yW-synthesizing protein APPROVED protein-coding ENSG00000198874 25598 07711 611243 REVIEWED 1604998 TYW5 tRNA-yW synthesizing protein 5 2 2 2 q33.1 194548334 194575163 - 200501879 200528468 - 200793634 200820459 - 6480464 15146197;12477932;8889548;20739293;20972222 129450 A2RUC4;A8KAJ9 ABBA01062508;ABBA01062509;AC097717;AK095272;AK293064;AK298977;AMYH01011397;BC025758;BC063502;BC132835;BC136837;BC144420;BM673915;BX482572;BX647677;BX648265;CH471063;CN261486;NM_001039693;NR_004862 A2RUC4;AAH63502;AAI32836;AAI36838;AAY24162;ADR83121;BAC04517;BAF85753;BAG61071;EAW70191;EAW70192;EAW70193;EAW70194;NP_001034782 Hs.204619 1645409;1674206;1684636;2185616;5014051;5015619;5015881;5022578;5022651;5037552 D11S2921;D11S3114;D1S1423;D2S2826;D2S2838;D8S2278;D8S2279;G31505;GDB:335751;RH98213 C2orf60;FLJ37953;MGC70509;hTYW5 OTTHUMP00000205938;jmjC domain-containing protein;jmjC domain-containing protein C2orf60;tRNA wybutosine-synthesizing protein 5;tRNA yW-synthesizing enzyme 5 APPROVED protein-coding ENSG00000162971 26754 08232 VALIDATED 1352439 U3 RNA, U3 small nucleolar 17 p12-p11 170381036 170390536 + 15574333;15574332;8440138;6186397;2719960;10606270 6067 K00777;NR_002906;XR_016095;XR_016096 RNU3 snorna 2303834 TYW1B tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine (yW). The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 7 7 q11.23 71677415 71936607 - 72023729 72298813 - 17150819;16344560;16162496;15489334;12477932;20379614;21906983;20686565;22505724 441250 Q6NUM6 ABBA01063983;ABBA01063984;ABBA01063985;ABBA01063986;ABBA01063987;ABBA01063988;ABBA01063989;ABBA01063990;AC005236;AC091738;AC092536;AC105447;AC114731;AC114816;AC211469;AI984113;AK294319;AK294401;AK301471;AK303225;AK309556;AK310913;AMYH01017530;AMYH01017531;BC068520;BC106019;DA769764;NM_001145440;NM_001145441 AAH68520;AAI06020;BAG57593;BAG57654;BAG62990;BAG64312;NP_001138912;NP_001138913;Q6NUM6 Hs.488614 1648680;1673868;1675987;1684612;1725721;1728307;1762339;1767957;1790405;1849150;1854693;1855328;2142138;2142902;2160321;2165296;7186552 D7S1912;D7S2466;D7S2695;D7S2729;D7S3264;G20747;G62119;G63435;GDB:1234300;GDB:1317572;GDB:1317742;RH12723;RH17204;RH79720;SHGC-146181;SHGC-8963 LINC00069;MGC87315;NCRNA00069;RSAFD2 long intergenic non-protein coding RNA 69;radical S-adenosyl methionine and flavodoxin domain-containing protein 2;radical S-adenosyl methionine and flavodoxin domains 1;tRNA wybutosine-synthesizing protein 1 homolog B;tRNA-yW synthesizing protein 1 homolog B (non-protein coding) APPROVED protein-coding 33908 REVIEWED 1603913 TYW3 tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008] 1 1 1 p31.1 73444068 73477631 + 74971428 75003896 + 75198836 75232361 + 6480464 17150819;16344560;15489334;14702039;12477932;8889548;22843503;22589738 127253 B4DFU6;Q6IPR3;Q96GE7 ABBA01074425;AC091611;AK098237;AK294264;AK299849;AK311272;AMYH01000712;BC009514;BC032341;BC071765;BM680331;BX647591;CH471059;DA033034;NM_001162916;NM_138467;NR_027962 AAH09514;AAH71765;BAC05267;BAG57557;BAG61711;CAI46106;EAX06408;NP_001156388;NP_612476;Q6IPR3 Hs.348411 1722179;5094354 G54629;G60141 C1orf171;FLJ40918 OTTHUMP00000011215;tRNA wybutosine-synthesizing protein 3 homolog;tRNA-yW-synthesizing protein 3 APPROVED protein-coding ENSG00000162623 24757 14036 611245 VALIDATED 1343980 U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4 19 19 19 q13.12 32946905 32949813 - 40925268 40928176 - 36233428 36236336 - 1580863;6480464 18460468;16147880;14702039;12477932;11739736;8889548;8630064;8586425;20696395;22022969;19322201;23000965;22505724;23246698 199746 K7EJH3;K7EPL9;K7ERY8;M0QYK5;M0R1E1;Q8WU68 ABBA01018763;AD000671;AI767079;AK092844;AK094213;AK303983;AMYH01009732;AY461582;AY569437;BC010865;BC021186;BC049208;BC062474;BM696851;CD175846;NG_027934;NM_001040425;NM_144987 AAH21186;AAT72770;ABM83348;ABM86562;BAC03988;BAG64901;NP_001035515;NP_659424;Q8WU68 Hs.351558 1683303 RH99245 FLJ35525;MGC33901;U2AF1-RS3;U2AF1L3;U2AF1L3V1;U2AF1RS3;U2af26 U2 auxiliary factor 26;U2 small nuclear RNA auxiliary factor 1-like 3;U2 small nuclear RNA auxiliary factor 1-like protein 3;U2 small nuclear RNA auxiliary factor 1-like protein 4;U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3;U2AF1-like protein 3;splicing factor U2AF 26 kDa subunit protein-coding ENSG00000161265 23020 03050 601080 VALIDATED 1321740 U2AF2 U2 small nuclear RNA auxiliary factor 2 U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008] 19 19 q13.42 60857228 60877894 + 56165416 56186082 + 1580863;6480464;6907045 9447963;12226669;9731529;19574390;19244360;18974054;18842594;18508922;18285458;17353931;17188295;17137510;17081983;17024186;16940179;16809543;16713569;16682775;16376933;16189514;16169070;16097034;16043505;15694343;15635413;15456888;15231748;15146197;14576315;12718882;12477932;12456665;12403470;12297299;12189174;12176931;11790298;11551507;11118443;11060040;10866799;10593950;10449420;10449418;9784496;9645944;9512519;9472028;9237760;9150140;9016565;8816452;8647433;1824937;1538748;1388271;12234937;9242493;9671485;9528748;21145461;20696395;16014633;16055720;21146534;17332742;21536736;21182205;22990118;15009664;20811636;21753750;22939629;23017209;12777385;16051665;21835928;17289029;21725067;21549307;21566083;21890473;21907836;21963094;22325350;21252943;21988832;22365833;22569250;22792276;23000965;23151878;22586326;23376934;23273425;23455922;15998806;12549820;18729074;22053931;22702716;23374342 11338 K7ELP8;K7ENG2;M0QYQ9;P26368 AB451261;AB451387;ABBA01020860;ABBA01020861;ABBA01020862;AC008735;AK311672;AMYH01010006;AMYH01010007;BC008740;BC030574;CH471135;CN364862;NG_032904;NM_001012478;NM_007279;X64044 AAH08740;AAH30574;ADZ15397;BAG70075;BAG70201;CAA45409;EAW72402;EAW72403;EAW72404;NP_001012496;NP_009210;P26368 Hs.528007 1678451;2108623 RH92186;U2AF2_7999 U2AF65 U2 (RNU2) small nuclear RNA auxiliary factor 2;U2 auxiliary factor 65 kDa subunit;U2 small nuclear ribonucleoprotein auxiliary factor (65kD);U2 snRNP auxiliary factor large subunit;hU2AF(65);hU2AF65;splicing factor U2AF 65 kD subunit;splicing factor U2AF 65 kDa subunit APPROVED protein-coding ENSG00000063244 23156 01872 191318 REVIEWED 4892414 U2SURP U2 snRNP-associated SURP domain containing 3 3 3 q23 141143870 141202968 + 144203062 144262257 + 142720372 142779567 + 6480464;6907045 21145461;12234937;12477932;14702039;9205841;21182205;22939629;22990118;17314511;18029348;17332742;22586326;20360068;12938929;19471022;21139048;21693764;21890473;21906983;12421765;22952844 23350 C9J5L1;C9JB80;C9JDJ7;E7ET15;E7EW00;H0Y8D9;H7C4P4;H7C4V2;O15042 AB002330;ABBA01059016;ABBA01059017;AC018450;AC026304;AK057679;AK074327;AK296440;AMYH01013548;AMYH01013549;AMYH01013550;BC006474;BC016323;BC028110;BC045744;BC062727;BC105604;BC111692;BK000564;NM_001080415 AAH06474;AAH16323;AAI05605;AAI11693;BAA20790;BAG59093;DAA00075;NP_001073884;O15042 Hs.596572 1647237;1651813;1673029;1725207;1725647;1847724;1847726;1854892;2106643;2140040;2140504;2184918;2190531;5491599 A006A24;D3S2362;EST17D12;G20651;G62100;MARC_23929-23930:1032289482:1;RH118896;RH12741;RH66197;RH68747;SR140__5311;STS-N23755;STS-N93625;WI-16414 KIAA0332;MGC133197;SR140;fSAPa 140 kDa Ser/Arg-rich domain protein;OTTHUMP00000214847;OTTHUMP00000222446;Ser/Arg-rich domain protein, 140 kDa;U2 associated SR140 protein;U2 snRNP-associated SURP motif-containing protein;U2-associated SR140 protein;U2-associated protein SR140;functional spliceosome-associated protein a protein-coding ENSG00000163714 30855 PROVISIONAL 1349504 U2AF1 U2 small nuclear RNA auxiliary factor 1 This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 21 21 q22.3 43386135 43400757 - 44513066 44527688 - 1580863;6480464;6907045 11551507;15652350;1388271;12226669;9731529;18285458;18211889;17081983;16940179;16855028;15950937;16809543;16043505;15899895;15489334;15474994;15096518;14702039;12477932;12297299;11991638;11830556;11724776;11604503;11533230;11500380;11448987;11118443;11060040;10830953;9799243;9645944;9472028;9237760;9016565;8660980;8647433;8261509;7956352;1824937;16189514;15146077;9671485;9528748;21145461;12234937;16014633;17577209;17643375;20514852;8816452;9671816;16712791;17207965;22990118;22939629;18029348;22389253;21907836;22325350;17332742;12777385;21139048;21890473;22118674;22158538;22178446;23280334;23455922;23455924;22323480;23029227;19738201;21963094;21988832;22365833;23000965;23151878;23335386;21424732;22053931;22174317;22505724;23184937 7307 Q01081;Q7Z780 AB451244;ABBA01004515;AF370386;AJ627978;AK022152;AK023589;AK094435;AK098266;AK307560;AL832665;AL832781;AMYH01012275;AP001631;AP001748;AP002085;BC001177;BC001923;BC005915;BC013786;BC032521;CB110007;CH471079;M96982;NG_029455;NM_001025203;NM_001025204;NM_006758 AAA36619;AAH01177;AAH01923;AAH05915;AAQ15222;ADQ32249;BAA95534;BAG70058;CAF29556;CAH10401;EAX09501;EAX09502;EAX09503;EAX09504;EAX09505;EAX09506;NP_001020374;NP_001020375;NP_006749;Q01081 Hs.365116 1660838;1690019;1737929;2152212 D11S3537;RH80644;STS-M96982;STS-W74700 DKFZp313J1712;FP793;RN;RNU2AF1;U2AF35;U2AFBP OTTHUMP00000109423;OTTHUMP00000109424;OTTHUMP00000214620;U2 auxiliary factor 35 kDa subunit;U2 small nuclear RNA auxillary factor 1;U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit;U2 snRNP auxiliary factor small subunit;U2(RNU2) small nuclear RNA auxiliary factor binding protein;splicing factor U2AF 35 kDa subunit;splicing factor U2AF 35kDa subunit APPROVED protein-coding ENSG00000160201 12453 01871 191317 REVIEWED 1321645 UAP1L1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 9 9 9 q34.3 110485412 110492449 + 139092414 139098812 + 139971953 139978990 + 6480464;6907045 14702039;12477932 91373 Q3KQV9;Q8TEI1 ABBA01022740;AK022632;AK074143;AK095393;AK128529;AL807752;AL832421;AMYH01021889;BC010529;BC012838;BC041644;BC106035;BC136391;BX333979;CH471090;CR979381;NM_207309 AAI06036;AAI36392;BAB84969;BAC87482;BAG53040;CAH10651;EAW88340;EAW88341;EAW88342;EAW88343;NP_997192;Q3KQV9 Hs.142076 RP11-229P13.18 OTTHUMP00000022652;OTTHUMP00000162550;UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 protein-coding ENSG00000197355 28082 15596 VALIDATED 1319461 UAP1 UDP-N-acteylglucosamine pyrophosphorylase 1 1 1 1 q23.3 135634340 135672681 + 160797920 160836257 + 162531296 162569633 + 1625539;1580863;6480464;6907045 15466941 16710414;9603950;15489334;12477932;11707391;9765219;9621304;8025165;16712791;18029348;19536175;22939629;21139048;21890473;21906983;19322201;21757351 6675 B1AR80;Q16222 AB011004;ABBA01047303;AK312685;AL596325;AMYH01001465;AW136085;BC009377;CB125476;CH471067;NM_003115;S73498 AAB31210;AAH09377;BAA31202;BAG35565;EAW90710;EAW90711;EAW90712;NP_003106;Q16222 Hs.492859 1726251;2133297;2162331;2172454;5093694 A009V08;G32869;G42369;RH68601;WI-13441 AGX;AGX1;AGX2;SPAG2 OTTHUMP00000032325;OTTHUMP00000032326;OTTHUMP00000032327;UDP-N-acetylhexosamine pyrophosphorylase;antigen X;sperm associated antigen 2;sperm-associated antigen 2 protein-coding ENSG00000117143 12457 04178 602862 VALIDATED 1349898 UBA52P1 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 1 7 7 7 p15.2 25717901 25718575 - 25695541 25696215 - 25729016 25729690 - 19123937;1330885 7312 AACC02000007;ABBA01056735;AC005165;AMYH01017123;CH236948;M62405;NG_001207 RPL40_1_796 pseudo 12459 INFERRED 1350773 UBA52P2 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 14 14 14 q11.2 1732443 1732982 + 20936787 20937326 + 21866947 21867486 + 19123937;1330885 7313 ABBA01061245;AL161747;AMYH01005595;M62406;NG_001208;NG_021249 RPL40_4_1339 pseudo 12460 INFERRED 1352491 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats 15 15 15 q22-q24 47837778 47946745 - 68733947 68842904 - 70946893 71055850 - 1580863;6480464 15358194;15146197;11162650;19240061;15489334;15302935;22294699;22407486;14702039;12477932;10997877;8889548;12421765;15604093;16730941;22939629;18029348;17003112;20360068;21987572;21139048;21890473;20473970 55075 F5H2B9;H0YMI1;H0YN48;H0YNH8;Q05DB3;Q9BZF9 AB046781;ABBA01038753;ABBA01038754;AC009269;AC087699;AF322916;AK000990;AK055435;AK057207;AL834243;AL834464;AMYH01006745;AMYH01006746;AMYH01006747;AMYH01006748;BC016881;BC113407;BC113409;BC143266;BC143267;BM693348;BU736944;CH471082;CN303461;NM_001008224;NM_018003 AAG49577;AAH16881;AAI13408;AAI13410;AAI43267;AAI43268;BAA91457;BAB13387;BAB70922;CAD38920;CAD39123;EAW77853;EAW77854;EAW77855;NP_001008225;NP_060473;Q9BZF9 Hs.108049 1651085;1689003;1719397;1768071;1852730;2159179;5022578;5037552 D15S1354;D1S1423;D8S2279;RH123427;RH98418;SHGC-56623;STS-H82872;STS-N26051 FLJ10128;KIAA1561;MGC141967;MGC141969;NUCLING OTTHUMP00000164515;nuclear membrane binding protein;uveal autoantigen with coiled coil domains and ankyrin repeats;uveal autoantigen with coiled-coil domains and ankyrin repeats protein-coding ENSG00000137831 15947 11657 612516 VALIDATED 1347449 UBA52P3 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 14 14 14 q23.1 38657912 38658432 + 57677608 57678328 + 58607956 58608476 + 19123937 122837 ABBA01018247;AL121579;AMYH01005756;NG_002524 RPL40_5_1373 pseudo 20056 INFERRED 2305186 UBA52P4 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 4 3 3 p22 27464018 27464385 + 27527741 27528108 + 19123937 100271030 ABBA01024999;AC099535;AMYH01013045;NG_010942;NG_032673 RPL40_1_352 pseudo 35929 INFERRED 2305185 UBA52P5 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5 8 8 q24.13 120438131 120438495 + 124249092 124249456 + 19123937 100271031 ABBA01037870;AC068228;AMYH01019003;NG_010950 RPL40_2_948 pseudo 36993 INFERRED 2304383 UBA52P6 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 9 9 9 p21.3 21950319 21950907 + 22001949 22002537 + 22011949 22012537 + 19123937 100130239 ABBA01065171;AL354709;AMYH01019276;NG_010990;NG_023297 1725615;1745869;1791382 G62023;GDB:679533;PMC108944P1 RPL40_3_969 pseudo 36763 INFERRED 2305675 UBA52P7 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 7 12 12 12 q24.21 115659534 115659913 - 114514792 114515171 - 116030409 116030788 - 19123937 100128617 ABBA01019991;AC009803;AMYH01004771;NG_010545 RPL40_2_1281 pseudo 36615 INFERRED 2304804 UBA52P8 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 16 16 16 q12 32875969 32876352 - 48368382 48368765 - 48368382 48368765 - 19123937 100271343 ABBA01000916;AC023818;AMYH01007646;NG_011237 RPL40_3_1481 pseudo 35625 INFERRED 2304803 UBA52P9 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 9 18 18 18 q11.2-q12.1 21745791 21746133 - 24935386 24935728 - 24935386 24935728 - 19123937 100271344 ABBA01022560;AC021382;AMYH01008906;NG_011241 RPL40_4_1591 pseudo 36169 INFERRED 1602133 UBA2 ubiquitin-like modifier activating enzyme 2 Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010] 19 19 q12 39611108 39652638 + 34919268 34960798 + 6480464;6907045 10187858;17353931;16679534;16620772;16455490;15660128;15489334;15302935;14702039;12924945;12477932;11481243;11451954;11230166;10217437;9920803;9853615;16169070;16189514;15546615;22318606;22403398;11792325;18680593;18691969;21518904;21209321;23095757;21252943;22863883;22939629;12941704;19246003;19307308;22157079;19471022;21139048;21693764;21890473;21906983;12821332;20501649;15983381;14673145;22884621 10054 B3KWB9;K7EPL2;K7ES38;K7ESK7;Q9UBT2 AB015337;AB208872;ABBA01018719;ABBA01018720;AC008747;AF079566;AF090384;AF110957;AK023120;AK024114;AK124730;AK299514;AK315521;AL136905;AMYH01009714;AMYH01009715;BC003153;BG503066;BG678201;BM556031;BT009781;CR456756;NM_005499;U35832 AAC99992;AAD12784;AAD23914;AAD24434;AAH03153;AAP88783;ABM84349;ABW03558;BAA34795;BAD92109;BAG37902;BAG51158;BAG51265;BAG54081;BAH13056;CAB66839;CAG33037;NP_005490;Q9UBT2 Hs.631580 2107737;5016681;5108100 A002Q31;Bdy27d05;UBA2__5175 ARX;FLJ13058;HRIHFB2115;SAE2 SUMO-1 activating enzyme subunit 2;SUMO-activating enzyme subunit 2;SUMO1 activating enzyme subunit 2;UBA2, ubiquitin-activating enzyme E1 homolog;anthracycline-associated resistance ARX;ubiquitin-like 1-activating enzyme E1B APPROVED protein-coding ENSG00000126261 30661 11658 613295 VALIDATED 1604847 UBA1 ubiquitin-like modifier activating enzyme 1 The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008] X X p11.23 46935204 46959471 + 47050199 47074527 + 6480464;6907045;7240710 16227972;17956732;18661401;18179898;18029348;17597759;17060614;16964243;16713569;16595681;15592455;15489334;15302935;15247261;15202508;14733918;14702039;12883554;12477932;11447495;9467000;8663123;8573590;7724583;7673335;3390177;2390975;2323223;1986373;1871145;1845793;1606621;1544321;17980597;11846513;22279528;19019082;16169070;17580310;19723899;20301739;20653130;15576338;16712842;17686993;18678647;21145461;21319273;22053931;22069333;22190034;22318606;22350887;22370482;22427669;22456334;22505724;22797925;22863883;22939629;23003343;8550581;9644242;16196087;19135240;12938929;19471022;21139048;21890473;21906983;22145905;15852347;18781797;19850743;20360068;20639865;21081666;21900206;21987572;21252943;20004025;22434192;23524849;16263121;21963094;21988832;22999844;23000965;23349634 7317 P22314;Q5JRR6;Q5JRR9;Q5JRS0;Q5JRS1;Q5JRS2;Q5JRS3 ABBA01052312;ABBA01052313;ABBA01052314;AF258566;AJ003111;AK097343;AK131341;AK293161;AK296866;AL513366;AMYH01022259;BC009900;BC013041;BC020261;BG703038;BI547207;CH471164;M58028;NG_009161;NM_003334;NM_153280;X52897;X56976 AAA61246;AAG23769;AAH13041;ABW03513;ABW03826;BAG53454;BAG56705;BAG59429;CAA05866;CAA37078;CAA40296;EAW59290;EAW59291;EAW59292;EAW59293;NP_003325;NP_695012;P22314 Hs.533273 1670216;1691586;1769170;1774603;2108167;2126857;2131073;2189405;2220546;5037552;5097203 AL031251;AL032564;D8S2279;DXS6974E;G42694;INE1_8829;MARC_4929-4930:991938967:3;RH18112;RH48434;UniSTS:484337;WI-18308 A1S9;A1S9T;A1ST;AMCX1;GXP1;MGC4781;POC20;SMAX2;UBA1A;UBE1;UBE1X A1S9T and BN75 temperature sensitivity complementing;OTTHUMP00000023197;OTTHUMP00000023198;POC20 centriolar protein homolog;UBA1, ubiquitin-activating enzyme E1 homolog A;ubiquitin-like modifier-activating enzyme 1 APPROVED protein-coding ENSG00000130985 12469 02440 301830;314370 REVIEWED 68482 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008] 19 19 p13.1-p12 18543614 18549270 + 18682614 18688270 + 6480464 2581967;15189156;14567916;16396496;16199891;15936278;15761153;15231748;15057824;14528304;12960054;12857745;12477932;12367500;11916981;11875025;11597332;11163799;9582194;8889548;8722009;8702753;8188300;8107144;8012384;3037496;2537304;1850507;1330885;11438941;14564014;16763556;17872946;10995389;11285280;11931757;12609980;12787561;12791267;15029244;15721744;16997282;20936779;18819927;15276183;10882101;11231585;16712791;11031247;22939629;12962325;17558393;21890473;21900206;21906983;21907836;22145905;15147878;17620599;17203973;21853274;22505724 7311 M0R1M6;M0R1V7;M0R2S1;Q3MIH3;Q7Z4P3;Q9UEK8 ABBA01051272;AC005253;AF348700;AF545864;AK057790;AK314717;AMYH01009595;BC101830;BC101832;BC143668;BQ428515;BQ428688;BU677484;CB124676;CH471106;DQ479851;NG_023288;NM_001033930;NM_003333;X56997;X56998;X56999;Y00361;Z57470 AAC25582;AAI01831;AAI01833;AAI43669;AAK31162;AAP97731;ABE96835;BAG37261;CAA40312;CAA40313;CAA40314;CAA68439;EAW84715;EAW84716;EAW84717;EAW84718;NP_001029102;NP_003324;P62987 Hs.5308 1678655;1701590;1725615;2167914;5015619;5021226;5022651;5037552 D11S2921;D11S3114;D14S594;D8S2279;G62023;RH104429;RH92993;RP_L40 CEP52;HUBCEP52;L40;MGC126879;MGC126881;MGC57125;RPL40 60S ribosomal protein L40;ribosomal protein L40;ubiquitin carboxyl extension protein 52;ubiquitin-52 amino acid fusion protein;ubiquitin-60S ribosomal protein L40;ubiquitin-CEP52 APPROVED protein-coding ENSG00000221983 12458 08931 191321 REVIEWED 1318027 UBA7 ubiquitin-like modifier activating enzyme 7 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008] 3 3 p21 49817642 49826395 - 49842638 49851391 - 1580863;6480464;6907045 16428300;19074853;18583345;16254333;14976209;12665801;12477932;11891284;11157743;10709110;8327486;7734949;1311632;16189514;20601676;16169070;16884686;20307617;8940097;18057259;21297633;16009940;18356159;20975683;22505724;22693631;21670151 7318 P41226 ABBA01024574;AC139451;AF294032;AMYH01013162;BC006378;BM152341;BT007026;CA425139;CH471055;L13852;NM_003335 AAA75388;AAG49557;AAH06378;AAP35672;ABM84233;ABM84633;EAW65023;EAW65024;NP_003326;P41226 Hs.16695 1699234;1743663;1854966;2153220 GDB:365672;RH103198;RH17798;SGC33684 D8;MGC12713;UBA1B;UBE1L;UBE2 OTTHUMP00000212701;UBA1, ubiquitin-activating enzyme E1 homolog B;UBA7, ubiquitin-activating enzyme E1;ubiquitin-activating enzyme 7;ubiquitin-activating enzyme E1 homolog;ubiquitin-activating enzyme E1-like;ubiquitin-activating enzyme E1-related protein;ubiquitin-activating enzyme-2;ubiquitin-like modifier-activating enzyme 7 APPROVED protein-coding ENSG00000182179 12471 01873 191325 REVIEWED 6481036 UBAC2-IT1 UBAC2 intronic transcript 1 (non-protein coding) 100874318 AL160155 miscrna 39685 5482548 UBAC2-AS1 UBAC2 antisense RNA 1 13 q32.3 99848628 99853011 - 11991713;14702039;16344560 100289373 ABBA01027127;AF339765;AK097488;AL159981;AMYH01005326;AW978140;BC043515;DB032212;DB446060;NR_036531;NR_036532 Hs.225914 2127870 WI-11495 APPROVED miscrna ENSG00000228889 42502 VALIDATED 737348 UBA3 ubiquitin-like modifier activating enzyme 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p24.3-p13 69186571 69212214 - 69103881 69129524 - 634396;6480464;6907045 11818503 19250909;10722740;15361859;12740388;9694792;11256614;18652489;16620772;16503656;16400609;16381901;15694336;15489336;15489334;14702039;14690597;12646924;12477932;11230166;11076863;10409428;10207026;16169070;17353931;19615732;22863883;22939629;19549727;21139048;21890473;21906983;21963094;23000965;17220875;18264111;21145461;22821745;22505724 9039 B7Z5F6;F8W8D4;F8WAT6;F8WF86;Q8TBC4 AB012190;ABBA01030898;AC092060;AC109587;AF046024;AK002159;AK289392;AK298878;AK314751;AK316540;AL117566;AMYH01013260;BC022853;BG940987;CD700642;CH471055;CR533537;NM_003968;NM_198195 AAC27648;AAH22853;ABM84093;ABM87464;BAA33144;BAF82081;BAG37290;BAG51021;BAH12892;BAH14911;CAB55996;CAG38568;CAL37771;CAL37966;EAW65470;NP_003959;NP_937838;Q8TBC4 Hs.154320 1652234;1854447;2108627;2167006;5092738 A005V36;G32297;SHGC-77074;UBE1C_8886;WI-12011 DKFZp566J164;MGC22384;UBE1C;hUBA3 NEDD8-activating enzyme E1 catalytic subunit;NEDD8-activating enzyme E1C;Nedd8-activating enzyme hUba3;OTTHUMP00000205507;OTTHUMP00000205508;OTTHUMP00000205509;UBA3, ubiquitin-activating enzyme E1 homolog;ubiquitin-activating enzyme 3;ubiquitin-activating enzyme E1C (UBA3 homolog, yeast);ubiquitin-activating enzyme E1C (homologous to yeast UBA3);ubiquitin-like modifier-activating enzyme 3 APPROVED protein-coding ENSG00000144744 12470 04413 603172 REVIEWED 1323296 UBA5 ubiquitin-like modifier activating enzyme 5 This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A pseudogene located on chromosome 1 has also been identified. [provided by RefSeq, Jul 2008] 3 3 3 q22.1 130798783 130822433 + 133861836 133879312 + 132373290 132396944 + 6480464 16381901;16344560;16328888;16189514;15489336;15489334;15071506;14702039;12477932;11230166;11076863;8889548;18442052;11256614;20368332;20562859;18029348;23383273;22863883;22939629;21304510;21900206;21139048;21906983 79876 C9J0F6;C9J5W5;C9JRV9;D6RJC9;E7EQ61;E7EWE1;Q9GZZ9 AB154406;ABBA01059180;ABBA01059181;AC020632;AK026904;AK027563;AK056238;AK129616;AK310239;AL136757;AL832669;AMYH01013502;AY253672;BC009737;BC048015;BM541647;BQ581736;BU739244;CH471052;DB082596;DB457433;NM_024818;NM_198329 AAH09737;AAP79600;BAB15587;BAB55199;BAD15375;CAB66691;CAL37403;CAL38002;EAW79189;EAW79190;EAW79191;EAW79192;NP_079094;NP_938143;Q9GZZ9 Hs.170737 1657461;1666732;1671177 SHGC-35962;STS-H07121;STS-Z40704 FLJ17281;FLJ23251;FLJ23251UBA5;THIFP1;UBE1DC1 OTTHUMP00000216393;OTTHUMP00000216394;OTTHUMP00000217048;OTTHUMP00000217050;UBA5, ubiquitin-activating enzyme E1 homolog;UFM1-activating enzyme;ubiquitin-activating enzyme 5;ubiquitin-activating enzyme E1 domain-containing protein 1;ubiquitin-activating enzyme E1-domain containing 1;ubiquitin-like modifier-activating enzyme 5 APPROVED protein-coding ENSG00000081307 23230 15598 610552 REVIEWED 1605374 UBA6 ubiquitin-like modifier activating enzyme 6 Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008] 4 4 4 q13.2 65943873 66029283 - 68164074 68249484 - 68481479 68566889 - 6480464;6907045 11256614;18353650;17889673;17597759;17580310;16381901;15815621;15489336;15489334;15231748;15202508;14702039;12477932;11230166;11076863;20975683;19322201;22347407;8889548;22863883;22939629;20639865;21139048;21890473;21906983;22427669;21963094;22999844;23000965;22505724;22797925;23003343;23036196 55236 H0Y8S8;H0Y9U5;Q8N9E4 AB014773;ABBA01022900;AC079880;AC096720;AK001670;AK027020;AK094164;AK094969;AK314371;AL596839;AL832015;AL832458;AMYH01014247;AMYH01014248;AW451445;AY359880;BC031637;BC126484;BC126486;BM973988;CH471057;EF623993;NM_018227 A0AVT1;AAH31637;AAI26485;AAI26487;AAQ63403;AAY40999;ABR25253;BAA91824;BAB19785;BAC04463;BAG37000;BAG52833;CAD89908;CAD89959;CAL37551;EAX05549;EAX05550;EAX05551;EAX05552;EAX05553;NP_060697 Hs.212774 1675897;1687305;1690133;1718833;1739161;1752447;2178640;2183451 A005E33;D4S2752;RH123120;RH28546;RH93660;RH98488;SHGC-106392;SHGC-52778 E1-L2;FLJ10808;FLJ23367;MOP-4;UBE1L2 OTTHUMP00000159634;UBA6, ubiquitin-activating enzyme E1;monocyte protein 4;ubiquitin-activating enzyme 6;ubiquitin-activating enzyme E1-like 2;ubiquitin-activating enzyme E1-like protein 2;ubiquitin-like modifier-activating enzyme 6 APPROVED protein-coding ENSG00000033178 25581 13341 611361 VALIDATED 1346576 UBAC1 UBA domain containing 1 9 9 9 q34.3 109342762 109371166 - 137964636 137993047 - 138824815 138853226 - 6480464 17353931;16310047;16189514;15746103;15531880;15489334;15231748;15164053;12477932;18029348;10857748;9110174;8619474;16227581;21832049;22939629;19013454;20639865;19953087;21139048;21890473;21906983 10422 Q9BSL1 ABBA01030049;AF038200;AF068195;AF176796;AL355574;AMYH01021851;BC004967;BC011822;BX647463;CH471090;NM_016172 AAC21559;AAD51084;AAH04967;AAH11822;ABM83493;ABM86708;EAW88187;EAW88188;EAW88189;EAW88190;NP_057256;Q9BSL1 Hs.9194 2108975;2151886;2164704;5015404;5015619;5015881;5016478;5020946;5022200;5022588;5037552 A008Y26;D11S3114;D5S1597E;D8S2279;GDB:335751;GDB:434012;L17705;L17971;L18426;SHGC-13536;UBADC1_9106 GBDR1;RP11-432J22.3;UBADC1 E3 ubiquitin-protein ligase subunit KPC2;OTTHUMP00000022563;UBA domain-containing protein 1;glialblastoma cell differentiation-related protein 1;kip1 ubiquitination-promoting complex protein 2;putative glialblastoma cell differentiation-related protein;ubiquitin associated domain containing 1;ubiquitin-associated domain-containing protein 1 protein-coding ENSG00000130560 30221 12170 608129 VALIDATED 1605547 UBALD2 UBA-like domain containing 2 17 17 17 q25.1 70855214 70861308 + 71773043 71778970 + 74261286 74267379 + 6480464 15489334;12477932 283991 K7EMI7;K7ERK7;Q8IYN6 ABBA01028750;AC015801;AMYH01008640;BC035511;BC060859;BU167469;CH471099;CT004974;NM_182565 AAH35511;AAH60859;ABW03765;EAW89383;NP_872371;Q8IYN6 Hs.644033 1767379;2149012 RH79079;SHGC-64300 FAM100B;MGC29814;MGC71792 OTTHUMP00000163501;UBA-like domain-containing protein 2;family with sequence similarity 100, member B;hypothetical protein LOC283991;protein FAM100B APPROVED protein-coding ENSG00000185262 28438 14533 VALIDATED 5476950 UBAP1L ubiquitin associated protein 1-like 15 15 q22.31 63172161 63194586 - 65385342 65398697 - 6480464 12477932;14702039 390595 F5GYI3;H0YKG2 ABBA01038861;AC013553;AK023802;AL359606;AMYH01006715;BC127916;BQ183317;BQ677048;CR749500;NM_001163692 F5GYI3;NP_001157164 Hs.659256;Hs.737497 1697096;5022200 L18426;RH102030 UBAP-1L ubiquitin-associated protein 1-like protein-coding ENSG00000246922 40028 VALIDATED 1604544 UBALD1 UBA-like domain containing 1 16 16 16 p13.3 4867738 4873782 - 4598885 4604928 - 4658884 4664927 - 6480464 15498874;15489334;14702039;12477932;16169070;17207965 124402 D3DUE0;K7EKR5;K7EKZ4;K7EM52;K7EM88;K7EQ49;Q8TB05 ABBA01026781;AC023830;AF370434;AF447881;AK055785;AK056747;AMYH01007107;AW015675;BC008681;BC012018;BC025327;BC040160;BC062534;CH471112;NM_145253 AAH12018;AAH25327;AAH62534;AAQ04656;AAQ15270;ADQ32191;EAW85284;EAW85285;EAW85286;EAW85287;EAW85288;NP_660296;Q8TB05 Hs.513313 5022651;5037552 D11S2921;D8S2279 FAM100A;FLJ31223;FLJ32185;PP11303 OTTHUMP00000159846;UBA-like domain-containing protein 1;family with sequence similarity 100, member A;hypothetical protein LOC124402;protein FAM100A APPROVED protein-coding ENSG00000153443 29576 14025 VALIDATED 1323278 UBAC2 UBA domain containing 2 13 13 13 q32.3 80696241 80882354 + 98651164 98836682 + 99852679 100038753 + 6480464 16303743;15489334;15057823;14702039;12477932;11991713;16169070;20379614;21700618;21918955;22939629;16196087;17342744;22455605;23000965;21963094;21987572;21139048;21890473;21906983;22119785;23128233;22505724 337867 A8K2S7;Q5JUH4;Q96NW2 ABBA01027122;ABBA01027123;ABBA01027124;ABBA01027125;ABBA01027126;ABBA01027127;AF339812;AI866141;AK054563;AK055110;AK075419;AK075516;AK124404;AK129861;AK290342;AK300908;AL136961;AL159981;AL160155;AMYH01005326;BC053346;BC063559;BC072674;BC121138;BC121139;BC143265;CH471085;CQ834234;CQ834238;CS051229;NM_001144072;NM_177967;NR_026644 AAH63559;AAH72674;AAI21139;AAI21140;BAB70757;BAC11609;BAC11665;BAF83031;BAG51469;BAG54036;BAH13373;CAH05332;CAH05334;CAI72110;EAX09010;EAX09011;EAX09012;EAX09013;EAX09014;EAX09015;EAX09016;NP_001137544;NP_808882;Q8NBM4 Hs.508545 1336083;1650186;1654579;1663712;1675575;1738941;1744301;1782862;1795724;1797614;2144549;2144687;2152221;2166990;2181640;2186593;2219504;5014051;5015619;5022200;5022651;5037552 D11S2921;D11S3114;D13S1284;D14S792;D8S2278;D8S2279;EBI2_25;G15934;GDB:451604;GPR18_2306;L08177;L18426;PHGDHL1__5684;RH11268;RH1615;RH44801;RH98849;SHGC-145779;SHGC-31753;STS-AA011560;WI-18159;WI-18855 FLJ26351;FLJ30001;FLJ30548;FLJ42413;MGC90487;PHGDHL1 OTTHUMP00000018615;OTTHUMP00000018616;RP11-178C10.1;UBA domain-containing protein 2;phosphoglycerate dehydrogenase like 1;phosphoglycerate dehydrogenase-like protein 1;ubiquitin-associated domain-containing protein 2 protein-coding ENSG00000134882 20486 VALIDATED 1347287 UBBP1 ubiquitin B pseudogene 1 2 2 q14.3 136803339 136803953 - 137086870 137087582 - 3029682;2154095 7315 ABBA01028150;AC112255;AMYH01011124;NG_002284;X04801 pseudo 12464 INFERRED 1352261 UBBP2 ubiquitin B pseudogene 2 1 1 1 q32 191247065 191247490 - 216090224 216090648 - 218023601 218024025 - 3029682 23668 ABBA01048110;AL445428;AMYH01001732;NG_002287;X04802 pseudo 12465 INFERRED 1349521 UBBP3 ubiquitin B pseudogene 3 2 2 2 q22.3 143335127 143335502 - 149337465 149337840 - 149620995 149621370 - 3035490;3029682;2154095 23667 ABBA01028000;AC105402;AMYH01011160;NG_002286;Y00332 1751819;5016053 D17950;SHGC-105838 pseudo 12466 INFERRED 1346838 UBBP4 ubiquitin B pseudogene 4 17 17 17 p11.2 19846820 19848706 + 21654826 21655739 + 21729865 21731757 + 2834222;2154095 23666 J3KSM4;J3QL68;J3QLP7;J3QRK5;K7EMA8 ABBA01006763;AC138761;AMYH01008270;NG_002285;X07499 1678515 RH66787 pseudo 12467 INFERRED 6481543 UBBP5 ubiquitin B pseudogene 5 13 87871259 87871524 + 100873783 ABBA01027279;AL162576;AMYH01005268;NG_032525 pseudo 42645 INFERRED 1313064 UBAP1 ubiquitin associated protein 1 This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 9 9 9 p13.3 34110844 34184366 + 34169011 34242521 + 34179003 34252521 + 6480464 11256614;19217189;16381901;16226037;15489336;15489334;15164053;14702039;12477932;12451983;12050802;11599797;11230166;11076863;8125298;19285159;21757351;15342556;16344560;20670673;22863883;21129243;21139048;21890473;21906983;22939629;22405001;22479182 51271 Q5T7B3 ABBA01065015;ABBA01065016;ABBA01065017;ABBA01065018;AF222043;AK074426;AK074724;AK074745;AK074812;AK074969;AK074995;AK223235;AK295482;AK303711;AK309329;AL136733;AL353662;AMYH01019334;AMYH01019335;BC020950;BC098141;BC098316;BC099726;BC100668;BF527586;BP237024;BX473128;CH471071;CQ782977;CQ783698;CR533551;DA741347;NM_001171201;NM_001171202;NM_001171203;NM_001171204;NM_016525;NR_033243 AAF37827;AAH20950;AAH98141;AAH98316;AAH99726;AAI00669;ABM82616;ABM85799;BAC11162;BAC11176;BAC11224;BAC11323;BAC11342;BAD96955;BAH12084;BAH14025;CAB66667;CAF86203;CAF86817;CAG38582;CAL38740;EAW58467;EAW58468;EAW58469;EAW58470;NP_001164672;NP_001164673;NP_001164674;NP_001164675;NP_057609;Q9NZ09 Hs.268963 1342403;1680124;1681342;1846814;2110011;2134527;2173554;2173556;2178712;2191379;5022578;5113164 A002D31;A004W30;A006S12;D1S1423;D9S1805;G19961;MARC_20663-20664:1033587320:1;RH16034;RH66189;RH91523;RH98457;UBAP1_9693 MGC119669;MGC8710;NAG20;UAP;UBAP;UBAP-1 OTTHUMP00000000480;OTTHUMP00000000481;OTTHUMP00000000482;nasopharyngeal carcinoma-associated gene 20 protein;ubiquitin-associated protein 1 APPROVED protein-coding ENSG00000165006 12461 15597 609787 REVIEWED 1321132 UBASH3A ubiquitin associated and SH3 domain containing A This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 21 21 q22.3 42697088 42740843 + 43823971 43867790 + 1580863;6480464 16344560;17880946;18344182;19585081;16780588;19073967;18840781;18189269;18006034;17709377;17382318;16429130;15489334;15159412;15107835;12477932;11281453;17599067;20647273;21383967;14968112;17588522;19430480;20410501;20453842;20494980;21829393;19380743;22505724 53347 C9JXN7;P57075 AA707211;ABBA01004543;ABBA01004544;ABBA01014169;ABBA01014170;AF520809;AF521702;AJ277750;AK301279;AK308151;AK313367;AMYH01012267;AP001624;BC028138;BC069357;BC069483;BC069511;BC069577;CH471079;CQ834170;DA926085;NG_029750;NM_001001895;NM_001243467;NM_018961 AAH28138;AAH69357;AAH69483;AAH69511;AAP80731;AAP80738;BAG62839;CAB91543;CAH05300;EAX09560;EAX09561;EAX09562;EAX09563;NP_001001895;NP_001230396;NP_061834;P57075 Hs.473912 1730898;1768508;1790599;2107739 D21S19;SHGC-13352;STS_CEB237;UBASH3A__5176 CLIP4;STS-2;TULA;TULA-1 OTTHUMP00000109366;OTTHUMP00000109367;OTTHUMP00000109368;T-cell ubiquitin ligand 1;T-cell ubiquitin ligand protein;cbl-interacting protein 4;suppressor of T-cell receptor signaling 2;ubiquitin-associated and SH3 domain-containing protein A APPROVED protein-coding ENSG00000160185 12462 06904 605736 REVIEWED 1350880 UBDP1 ubiquitin D pseudogene 1 6 p22.1 29432452 29432722 - 100286971;387062 ABBA01038032;AL645927;AL662869;AMYH01016195;BX000531;BX247947;BX927133;CR388393;CR759768;CR759956;NG_027532 dJ994E9.3 pseudo 18796 INFERRED 1323319 UBAP2 ubiquitin associated protein 2 This gene is a novel gene isolated based on its expression in the human adrenal gland. The full-length protein encoded by this gene contains a UBA-domain (ubiquitin associated domain), which is a motif found in several proteins having connections to ubiquitin and the ubiquitination pathway. In addition, the protein contains a region similar to a domain found in members of the atrophin-1 family. The function of this protein has not been determined. Additional alternate splice variants may exist, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 33853492 33980727 - 33911691 34038947 - 33921691 34048947 - 6480464 15951569;15592455;15489334;15164053;15144186;14702039;12975309;12477932;21145461;10819331;10737800;8871400;20670673;19615732;16055720;22939629;21139048;21906983 55833 A2A305;A2A306;A6NCA8;E7EWG4;F5H2U4;H0YDN2;Q5JV03;Q5JV08;Q5T6F2;Q9P0H6 AB040924;AB209911;ABBA01065028;ABBA01065029;ABBA01065030;ABBA01065031;ABBA01065032;ABBA01065033;ABBA01065034;ABBA01065035;AF157327;AK025357;AK025801;AK026088;AK057564;AK074884;AK125935;AK128424;AK294952;AK299183;AK302335;AK302754;AK303493;AL139113;AL354989;AMYH01019329;AMYH01019330;AMYH01019331;AMYH01019332;AY358682;BC007890;BC037416;BC041077;BC111409;BC111762;BE410205;BF332025;BG723831;CR933678;NM_018449 AAF67493;AAH07890;AAI11763;AAQ89045;BAA96015;BAC11266;BAD93148;BAG51935;BAG54267;BAG58027;BAG61228;BAG63966;BAG64527;BAH13678;CAI45972;NP_060919;Q5T6F2 Hs.493739 1654852;1677062;1679103;1722351;1752785;1763693;2147083;2152612;2166115;2166117;5016781;5122888 A005R21;G20439;G60244;HSC0VF042;RH46060;RH48714;RH68587;RH76619;RH98316;SHGC-106682;SHGC-147368;SHGC-67307 FLJ22435;FLJ43947;FLJ46567;KIAA1491;UBAP-2;bA176F3.5 AD-012 protein;OTTHUMP00000000473;ubiquitin-associated protein 2 APPROVED protein-coding ENSG00000137073 14185 06748 REVIEWED 1354268 UBAP2L ubiquitin associated protein 2-like 1 1 1 q21.3 127264371 127315051 + 152460067 152509953 + 154192655 154243329 + 1580863;6480464 21145461;14667819;17081983;16964243;16710414;16094384;15592455;15489334;15302935;15144186;12477932;11230159;8590280;12421765;16713569;17148452;20200978;20237496;18838386;16055720;19945174;22939629;21182205;21987572;21139048;21890473;21906983;22586326;16009940;19322201;21628590;22505724 9898 F8W726;H0Y5H6;H7C2T8;Q5VU77;Q5VU78;Q5VU79;Q5VU80;Q5VU81;Q9UGL5 ABBA01049476;AJ243668;AJ243669;AJ243670;AK124294;AK302662;AK302953;AK303533;AL590431;AMYH01001415;BC003170;CH471121;D63478;DC404293;NM_001127320;NM_014847 AAH03170;BAA09765;BAG63897;BAG64108;BAG64560;CAB65099;CAB65100;CAB65101;EAW53213;EAW53214;EAW53215;EAW53216;EAW53217;EAW53218;EAW53219;EAW53220;NP_001120792;NP_055662;Q14157 Hs.490551 1660718;1660720;1739155;1781372;1781538;1851181;1851248;2125146;2155114 Cda13d03;D1S2274;D1S3020;RH18226;RH36191;RH44951;SHGC-104553;SHGC-143399;SHGC-33740 FLJ42300;KIAA0144;NICE-4 OTTHUMP00000034204;OTTHUMP00000034205;protein NICE-4;ubiquitin-associated protein 2-like protein-coding ENSG00000143569 29877 06665 VALIDATED 69468 UBD ubiquitin D 6 6 p21.3 29631387 29635681 - 29523389 29527702 - 724702;1580863;6480464 9368598 22434192;21090589;19437562;19303852;19185524;19033385;18574467;17971048;17889673;16707496;16495380;16495226;16344560;15831455;15761153;15489334;14757770;14574404;12883554;12730673;12610113;12477932;11991975;11112487;11087860;11087859;10200259;9525617;8662070;17067581;16808324;15994808;16775314;22797925;21351261;20587610;19028597;19726511;19808075;19851445;19959714;16712791;20975683;21396347;21757738;21631897;22072791;22164771;22281738;22292662;22349260;22025632;22412388;22347407;22427669;22402871;21121635;23036196;22569823 10537 O15205;Q5RJ89 AA878968;ABBA01038033;AF123050;AK311914;AL031983;AL645936;AL662826;AMYH01016195;BC012472;BX000688;BX927223;CB111380;CH471081;CR759766;CR759770;CR788300;CR942274;DB181897;NM_006398;Y12653 AAD52982;AAH12472;ABM85550;BAG34855;CAA21458;CAA73200;EAX03201;NP_006389;O15205 Hs.44532 1657219;1682535 RH93792;STS-N33920 FAT10;GABBR1;UBD-3 OTTHUMP00000029427;diubiquitin;ubiquitin D;ubiquitin-like protein FAT10 protein-coding ENSG00000213886 18795 09354 606050 VALIDATED 1349785 UBE2CP1 ubiquitin-conjugating enzyme E2C pseudogene 1 14 14 14 q12 11017844 11018632 - 30221719 30222692 - 31152068 31152856 - 326105 ABBA01061403;AL121852;AMYH01005636;NG_002528 pseudo 19670 INFERRED 5553010 UBE2CP2 ubiquitin-conjugating enzyme E2C pseudogene 2 18 18 q11.2 18734444 18734956 - 20480449 20480958 - 646595 ABBA01022654;AC091147;AMYH01008883;NG_022483 pseudo 43551 INFERRED 1605914 UBASH3B ubiquitin associated and SH3 domain containing B This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008] 11 11 11 q24.1 119685695 119844497 + 122031640 122190391 + 122526398 122685187 + 6480464 17599067;17675467;18189269;16429130;16344560;16303743;15489334;15388581;15159412;14702039;12665801;12477932;12370296;11853319;8889548;8125298;17588522;20379614;20585042;9790534;21139048;21906983;22745667;20686565;17880946;19322201;22267732;18271526;19380743;22505724 84959 Q8TF42 AB075839;ABBA01031282;ABBA01031283;ABBA01031284;ABBA01031285;ABBA01031286;AF425252;AK075203;AK092011;AK222843;AK222846;AL833092;AMYH01004094;AP002762;BC007541;CA313832;CH471065;CQ783295;CR741636;DA197468;HI573876;NM_032873 AAH07541;AAL16953;BAB85545;BAC11468;BAD96563;BAD96566;CAF86506;CBX47427;EAW67531;NP_116262;Q8TF42 Hs.444075 1336525;1648399;1666495;1686238;1721093;1731569;1737201;1737949;1764747;1779774;1779776;2126201;2177472;7185419 D11S1269;D11S1336;D11S2064;D11S3069;D11S3556;DXS8337;G09553;G59531;RH99018;SHGC-148327;SHGC-153746;SHGC-153747;SHGC-54247 KIAA1959;MGC15437;STS-1;STS1;TULA-2;p70 Cbl-interacting protein Sts-1;OTTHUMP00000231738;SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate;T-cell ubiquitin ligand 2;cbl-interacting protein p70;nm23-phosphorylated unknown substrate;suppressor of T-cell receptor signaling 1;tyrosine-protein phosphatase STS1/TULA2;ubiquitin-associated and SH3 domain-containing protein B APPROVED protein-coding ENSG00000154127 29884 16463 609201 VALIDATED 5553008 UBE2CP3 ubiquitin-conjugating enzyme E2C pseudogene 3 4 4 q12 57633523 57634055 + 57938715 57939477 + 100129983 ABBA01003450;AC069307;AMYH01014198;NG_022057;NG_031877 pseudo 43552 INFERRED 6481093 UBE2CP5 ubiquitin-conjugating enzyme E2C pseudogene 5 19 58379338 58379831 + 100874260 ABBA01020796;AC010326;AMYH01010030;NG_032555 pseudo 43554 INFERRED 1344008 UBB ubiquitin B This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 17 17 p12-p11.2 16225092 16226779 + 16284367 16286054 + 6480464;6907045;7240710 14528304;11597332;11285280;12367500;15029244;12791267;9660940;10995389;11742988;11931757;12070128;12218189;12593796;12820959;15469984;15781449;17395554;17237936;17203973;17081983;16701206;16651270;16581786;16543144;16510124;16499958;16443603;16429130;16407252;16288044;16267042;16189514;16137618;16027724;16023596;15761153;15694335;15489334;15469821;15466860;16407834;11231585;17931355;17405812;15231748;15149598;15125833;15105460;15057824;14745543;14722266;14695475;14612456;12960054;12893422;12883554;12871580;12857950;12610113;12507430;12477932;12239347;12234927;12055595;12016299;11991975;11790298;11320250;11173499;11146632;11112487;11087860;11087859;11046148;10871850;10827953;9644242;9525617;9504932;9422699;8917096;8702753;8275493;8166633;8107144;8087846;6275256;6261785;6092831;3041007;3029682;2988935;2820408;2581967;2537950;2154095;1850507;1657614;1370760;124018;17067581;16808324;15994808;16775314;15452314;16625196;17323924;18719106;10066798;11046155;11603807;12207904;12354939;12421820;12682062;12787561;12853446;14755250;14764729;15070733;15120077;15143060;15218035;15324660;15721744;15826667;15885686;15886351;16118204;16123592;16129784;16169070;16174773;16209941;16247449;16252010;16286470;16630834;16712842;16763556;16874301;16904669;16931761;16997282;17047224;17290220;17310990;17719541;17719543;17803915;17936559;18029035;18082604;18313049;19214209;9488668;19608861;19754430;12609980;10882101;15276183;16226712;20826778;21059367;20491623;20603015;21237244;11031247;22990118;17558393;21480003;21544573;21378163;17662948;14701804;17440617;17609272;17620599;18596088;19193609;19516896;20205790;21110914;21145461;21659531;21676867;21690091;22078707;22100894;22101367;22266820;22279058;22285184;22492721;22505724;22681887;17114425;18274552;20972266;21906983;15342556;18655026;19738201;20639865;21139048;21565611;21890473;21963094;21987572;22053931;22623428;22797007;23000965;23106098;23349634;23383273;23548901;23798571;8889548;22082077 7314 B4DV12;J3QKN0;J3QS39;J3QSA3;Q5U5U6;Q9UPK7 AA659395;AB089617;ABBA01035654;AC093484;AK129498;AK300882;AMYH01008148;BC000379;BC009301;BC015127;BC026301;BC031027;BC038999;BC046123;BG548604;BG718912;BM554254;BM662083;BP307496;BT020104;BU596366;BU661443;CH471222;DB480830;FB775576;HY014043;NG_023320;NM_001281716;NM_001281717;NM_001281718;NM_001281719;NM_001281720;NM_018955;X04803 AAH00379;AAH09301;AAH15127;AAH26301;AAH31027;AAH38999;AAH46123;AAV38907;BAC56955;BAG62524;CAA28495;CAV30745;EAX04501;EAX04502;EAX04503;EAX04504;EAX04505;EAX04506;NP_001268645;NP_001268646;NP_001268647;NP_001268648;NP_001268649;NP_061828;P0CG47 Hs.356190;Hs.730603;Hs.741549 1666610;1678515;1736678;1741377;2174326;5109589 D17S1503E;D2S1561E;GDB:180946;RH1659;RH66787;STS-X04803 FLJ25987;MGC8385;RPS27A;UBA52;UBC OTTHUMP00000064959;polyubiquitin B;polyubiquitin-B;ubiquitin APPROVED protein-coding 12463 06771 119540;191339 REVIEWED 5552975 UBE2CP4 ubiquitin-conjugating enzyme E2C pseudogene 4 15 15 q13.3 29481998 29482378 + 31712320 31713371 + 14702039 283711 ABBA01038333;AC104759;AMYH01006503;NG_023395 pseudo 43553 INFERRED 1349526 UBE2B ubiquitin-conjugating enzyme E2B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008] 5 5 q31.1 133734769 133755698 + 133706870 133727799 + 1600438;6480464;6907045 9497253 1559696;18497339;18385908;18363965;18339854;17050667;16169070;2158443;1883845;1717990;15489334;15359278;14981545;14585983;12477932;11929833;11885984;10908344;10884424;8575614;10373550;12776193;15001359;16824193;17720710;19123975;20378615;19549727;19466589;21041297;22939629;21422291;21549715;21858012;20080676;21113135;19410543;16595681;18245774;20675655;20064529;21443952;21816346;21884979;21965653;22083959;21139048;12524449;19548583;22069333;22547805;22705350 7320 D6RDW8;H0Y9V2;H0YA80;P63146 ABBA01068760;AC109454;AK312012;AMYH01015623;AMYH01015624;BC001694;BC005979;BC008404;BC008470;BT007071;CH471062;CR407634;DQ090910;M74525;NM_003337;T88933;X53251 AAA35982;AAH05979;AAH08404;AAH08470;AAP35734;AAY68224;ABM84039;ABM87386;BAG34950;CAA37339;CAG28562;EAW62257;EAW62258;NP_003328;P63146 Hs.612096;Hs.730071 1654670;1667113;1703238;1735476;2147459;2179737 D5S1596E;RH36042;SGC32120;WI-16140;WI-20661;WI-20684 E2-17kDa;HHR6B;HR6B;RAD6B;UBC2 E2 protein;OTTHUMP00000159383;OTTHUMP00000223112;OTTHUMP00000223113;RAD6 homolog B;ubiquitin carrier protein B;ubiquitin-conjugating enzyme E2 B;ubiquitin-conjugating enzyme E2-17 kDa;ubiquitin-conjugating enzyme E2B (RAD6 homolog);ubiquitin-protein ligase B APPROVED protein-coding ENSG00000119048 12473 01533 179095 REVIEWED 1346006 UBE2A ubiquitin-conjugating enzyme E2A The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Multiple alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Jul 2008] X X q24 118592527 118602409 + 118708499 118718381 + 1580863;6480464;6907045 10908344;11953320;1559696;1717990;16909393;15489334;12776193;12640129;12525704;12477932;11929833;11885984;10884424;8125298;7821789;20412111;19549727;20967207;21108393;15509568;17108083;18926833;21967848;22053931;22427669;22456510;22592529;22939629;21858012;19410543;21963094;15359278;21443952;21816346;21884979;21900206;22083959;21139048;21906983;23471985 7319 P49459;Q8WXB3 ABBA01036658;ABBA01036659;AC004913;AF455746;AK223045;AK223064;AK297696;AK301675;AK313092;AL701289;AMYH01022884;BC010175;BC042021;BI093289;CH471161;D28459;DQ068065;HI179118;HI179120;HI179122;M74524;NG_009267;NM_003336;NM_181762;NM_181777 AAA35981;AAH10175;AAL58874;AAY46159;ABM84312;ABM87705;BAA05825;BAD96765;BAD96784;BAG35916;BAG60054;BAG63148;CBX53867;CBX53868;CBX53869;EAW89861;EAW89862;EAW89863;NP_003327;NP_861427;NP_861442;P49459 Hs.379466 1695024;1795254;2167205;2173323;5093074 A009F17;G32504;G44726;STS-M74524;UBE2A_72 HHR6A;MRXS30;MRXSN;RAD6A;UBC2 HR6A;OTTHUMP00000023900;OTTHUMP00000023901;OTTHUMP00000023902;RAD6 homolog A;ubiquitin carrier protein A;ubiquitin-conjugating enzyme E2 A;ubiquitin-conjugating enzyme E2A (RAD6 homolog);ubiquitin-protein ligase A APPROVED protein-coding ENSG00000077721 12472 02422 300860;312180 REVIEWED 1626139 UBE2D3P1 ubiquitin-conjugating enzyme E2D 3 pseudogene 1 20 20 20 p12.3 5342764 5343647 - 5221034 5221477 - 5272734 5273617 - 6480464 11780052 100037280 ABBA01053878;AL121755;AMYH01011692;NG_006450 1745989;1788742 RH125441;RH128490 RP4-680N4;UBE2D3L;UBE2D3P;UBE2D5P APPROVED pseudo 33349 INFERRED 6481092 UBE2D3P3 ubiquitin-conjugating enzyme E2D 3 pseudogene 3 1 150772949 150773501 + 100874262 ABBA01049354;AL356292;AMYH01001383;NG_032223 pseudo 39011 INFERRED 4889632 UBE2D3P4 ubiquitin-conjugating enzyme E2D 3 pseudogene 4 13 13 13 q31.1 65492126 65492453 + 83492550 83492878 + 84594549 84594877 + 100131800 ABBA01021744;AL590681;AMYH01005247;NG_011460 APPROVED pseudo 39391 INFERRED 1313378 UBE2C ubiquitin-conjugating enzyme E2C The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013] 20 20 q13.12 43874662 43879003 + 44441255 44445596 + 1580863;6480464;6907045 9122200;11285280;15504738;14593737;15029244;10793135;11535616;11742988;12070128;10548110;11340163;18753363;18722180;18666437;18559889;18331723;17354233;17217624;16772118;16106252;15489334;15342556;15208666;12874022;12477932;11927573;11780052;11739784;11549316;16169070;15107846;22694363;22056852;19913121;20628086;16712791;19690564;20739533;17443180;17443186;17588522;18485873;19302711;19438748;19638491;19657671;19779934;19820702;19822757;20007692;20065091;16341674;19038004;21556051;22760214;22939629;23078409;21454660;21651863;16196087;15749827;20639865;21965653;23708001;23708605;23791783;23824909;14690596;17339342;18264111;19322201;19475398;20360068;21354912;21139048;21890473;21906983;20530197;23201130;23707760;23355337;14671314;18662541;21963094;21988832;23000965;23102841;16455800;16472766;17227951;17360335;19826003;20080579;20733055;20864041;21874044;21937719;22053931;22193957;22505724;22529100;22580460;22415060 11065 K4DI81;O00762;Q5TZN3 ABBA01052667;AK311949;AL050348;AMYH01011939;BC007656;BC016292;BC028161;BC032677;BC050736;BF974975;BI858659;BM556795;BM747513;BP227692;BT007300;BT020165;BT020166;BU169315;BU171488;BU844974;CB143441;CH471077;CK904708;CN354813;CN354815;CR456988;DB062573;NM_001281741;NM_001281742;NM_007019;NM_181799;NM_181800;NM_181801;NM_181802;NM_181803;NR_104036;NR_104037;U73379 AAB53362;AAH07656;AAH16292;AAH50736;AAP35964;AAP36183;AAV38967;AAV38968;ABM83342;ABM86556;ACE86548;ACE87229;BAG34890;CAG33269;EAW75804;EAW75805;EAW75806;EAW75807;EAW75808;EAW75809;NP_001268670;NP_001268671;NP_008950;NP_861515;NP_861516;NP_861517;NP_861518;NP_861519;O00762 Hs.93002 2132826;2174643 D20S576E;STS-T86744 UBCH10;dJ447F3.2 OTTHUMP00000031653;OTTHUMP00000031654;OTTHUMP00000031655;OTTHUMP00000196690;OTTHUMP00000196691;cyclin-selective ubiquitin carrier protein;mitotic-specific ubiquitin-conjugating enzyme;ubiquitin carrier protein C;ubiquitin carrier protein E2-C;ubiquitin-conjugating enzyme E2 C;ubiquitin-protein ligase C APPROVED protein-coding ENSG00000175063 15937 05717 605574 REVIEWED 4144302 UBE2D3P2 ubiquitin-conjugating enzyme E2D 3 pseudogene 2 3 3 3 p22.2 37119224 37119671 + 37151153 37151600 + 37175842 37176655 + 100130139 ABBA01024855;AC126118;AMYH01013086;NG_028938 1745989 RH125441 APPROVED pseudo 39010 INFERRED 6481299 UBE2E1-AS1 UBE2E1 antisense RNA 1 100874092 AC020626 APPROVED miscrna 40598 1603496 UBE2DNL ubiquitin-conjugating enzyme E2D N-terminal like (pseudogene) X X X q21.1 84428607 84429346 + 84075818 84076429 + 84189157 84189896 + 6480464 15489334;12477932;19549727;21832049 100131816 Q8IWF7 ABBA01051628;AMYH01022660;BC040290;NR_024062;Z83820 Q8IWF7 Hs.460809 MGC42638 APPROVED pseudo ENSG00000229547 28656 PROVISIONAL 1317341 UBE2D1 ubiquitin-conjugating enzyme E2D 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 10 10 q21.1 59764745 59800515 + 60094739 60130513 + 1580863;6480464;6484113;6907045 15621726;11285280;14593737;15029244;22438555;16275645;10793135;11535616;11742988;12070128;10548110;11340163;17373700;16189514;15489334;15139022;14562029;12883554;12670957;12480712;12477932;12393902;11557750;11389839;11274149;10973499;10072594;10066826;9918797;9362508;9182527;8889548;8530467;8090726;11513855;8576257;14636569;14638690;12890688;12732733;12485996;12438698;10562557;14980219;18838541;18851830;9153201;11927591;11278247;15494311;16385451;17337485;17588522;17719635;17873020;18359941;18485199;18508924;18644345;18845142;19053840;19549727;19690564;19854139;20146531;20347421;9409737;21102463;21113135;12525502;16344560;21685362;21396940;11752173;14671314;23115235;23150668;23297342;23322298;23344957;23370391;16522193;17218787;17301054;17132228;21296087;21857666;11322894;12504025;12538761;12574167;12646252;12692129;12705856;12887909;12925736;14671306;14741369;14960280;15001357;15013777;15103331;15107402;15198682;15215316;15236971;15300255;15331633;15466472;15684077;15749826;15989956;16269333;16601690;16682404;16740632;16809764;16831871;17069764;17081987;17183367;17203973;17229889;17341663;17392790;17543862;17544371;17579016;17848574;18042044;18070888;18077445;18077452;18298843;18408734;18485873;18627766;18632619;18794347;19032150;19037258;19056735;19064926;19103148;19164295;19247369;19264966;19300455;19346402;19412162;19475398;19578373;19581926;19648119;19710010;19741096;19818714;19818716;19826003;19854138;19965871;19995937;20051513;20080579;20081843;20124408;20160477;20173098;20181953;20181957;20302626;20388495;20553626;20577214;20639871;20675402;20694676;20729196;20852628;20858899;20864041;21045130;21048196;21070971;21157430;21209460;21220517;21242966;21454478;21577200;21597459;21670212;21734303;21807946;21822215;21887275;21898230;21911421;21931591;21936852;21952639;21953697;22016339;22017877;22117219;22266820;22323446;22331460;22334663;22493164;22505724;22529100;22596162;22711876;22745133;22825849;22890573;22902639;22916255;22939629;23084835;23085759;9450543;9575161;16569768;21139048;21906983;19712108;20378537;21518764;21900206;22124327;15247280;11912157;12524449;14517261;14690596;15280377;15611064;16403807;17170710;21143188;21571784;22069333;22318606;22350887;22842904;8524278;9497385 7321 P51668 ABBA01019436;AC016396;AC023170;AF020761;AF257220;AI566662;AJ272367;AJ293565;AK291901;AMYH01002766;BC005980;BC015997;BI598342;BM468116;BM970335;BT007041;CH471083;DA618122;DA677507;NM_001204880;NM_003338;X78140 AAH05980;AAH15997;AAM81086;AAP35690;ABM84037;ABM87384;BAF84590;CAA55019;CAC82097;CAC82177;EAW54167;EAW54168;EAW54169;EAW54170;NP_001191809;NP_003329;P51668 Hs.129683 1644902;5109661 D7S2050E;SHGC-14566 E2(17)KB1;SFT;UBC4/5;UBCH5;UBCH5A OTTHUMP00000019631;UBC4/5 homolog;stimulator of Fe transport;ubiquitin carrier protein D1;ubiquitin-conjugating enzyme E2 D1;ubiquitin-conjugating enzyme E2(17)KB 1;ubiquitin-conjugating enzyme E2-17 kDa 1;ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast);ubiquitin-protein ligase D1 APPROVED protein-coding 12474 04267 602961 REVIEWED 7175009 UBE2E2-AS1 UBE2E2 antisense RNA 1 (head to head) 3 23236561 23244484 - 100505877 ABBA01025048;AC135966;AMYH01013025;XR_110043;XR_110044;XR_112471;XR_112472;XR_158993;XR_159408;XR_171369;XR_171370;XR_171371 Hs.125904 miscrna ENSG00000233153 44512 MODEL 1346853 UBC ubiquitin C This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010] 12 12 q24.3 123962145 123965530 - 125396192 125399587 - 6480464 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7316 F5GXK7;F5GYU3;F5GZ39;F5H041;F5H265;F5H2Z3;F5H388;F5H4D8;F5H6Q2;F5H747;F5H7K6;F5H7Y5;Q96C32;Q9UPK7 AB003730;AB009010;AB089613;AB209782;ABBA01060362;AC126309;AF052164;AK026846;AK056939;AK097415;AK098827;AK129749;AK291539;AL117514;AMYH01004852;AW069329;AY732488;AY819759;BC000449;BC008955;BC014880;BC039193;BC080583;BC093445;BE873233;BU195276;CH471054;D63791;DB077241;DC395997;M17597;M26880;NG_027722;NM_021009 AAA36787;AAA36789;AAH08955;AAH14880;AAH39193;AAH80583;AAV33127;AAV68344;BAA09860;BAA23486;BAA23632;BAB71316;BAC56951;BAD93019;BAF84228;CAB55973;EAW98463;EAW98464;EAW98465;EAW98466;NP_066289;P0CG48 Hs.520348;Hs.707528 2141910;2157017 Bda03b10;STS-W31616 HMG20 OTTHUMP00000239012;OTTHUMP00000239019;polyubiquitin-C;ubiquitin C APPROVED protein-coding ENSG00000150991 12468 07038 191340 REVIEWED 69475 UBE2D2 ubiquitin-conjugating enzyme E2D 2 Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013] 5 5 q31.2 138920935 138988203 + 138940751 139008019 + 1302873;69394;6480464;6907045 11020223;8754804 10918611;10848595;10514377;10329681;9182527;8530467;19123975;18784070;10888670;10531035;11676916;11513855;12431996;14562029;12878161;14667819;8090726;9990509;7724550;19240791;18996392;18703417;18508924;16112646;15489334;15280377;15231748;15001359;14702039;14612456;12670957;12477932;12036302;11724934;19913121;20628086;17363573;17576800;17580310;17588522;17719635;18206970;19043414;19549727;19615732;19690564;20051513;20064473;20152160;20347421;11912157;22610502;18359941;22939629;22989009;22992278;23086937;20696396;20725033;21113135;19741096;19816404;19818714;19826003;19953087;20059950;20874444;20122409;20383333;20452352;20466727;20484052;20525694;20542005;20553626;20625400;20675402;20705607;21030588;20854419;20864041;20870715;21068390;17159902;17203973;17206147;17314412;17349959;17418098;17452440;17462600;17544371;19325566;17553932;17568776;17609381;17848550;17893151;18006823;18312418;18344599;18451149;18519589;18536714;18632619;18665269;18819927;18838541;19372219;19193720;19196968;19407830;19483087;19619542;19219073;19224863;19232519;19237536;19256485;19258326;19264966;19287380;19675099;15522302;21625211;21963094;23000965;23408431;23418353;23449389;21084285;21127351;21226479;21317885;21358815;21685362;21694720;21764995;21828050;21965653;21987572;22065755;22084099;22157679;22158902;22190037;22215675;22266821;22301280;22308378;22334663;22493164;22496338;22505724;22613722;22889411;22902369;10722742;11574546;11714696;11782429;11807090;11823428;11907583;12140560;12150907;14769800;14990566;15069192;15103385;15117950;15256223;15447663;15684077;15911628;15930137;15936278;15950904;16174773;16213503;16275660;16403452;16472766;16682404;16701206;16931761;16996030;17013377;17116465;19712108;21518764;21139048;21890473;21906983;15247280;12524449;14517261;14690596;15062086;18264111;21143188;21393245;21860411;22069333;22325355;22350887;22582951;8889548;14671314;23101881;23259674;23287719;23387299 7322 D6RFM0;P62837 ABBA01026449;ABBA01026450;ABBA01026451;ABBA01026452;ABBA01026453;ABBA01026454;ABBA01026455;ABBA01026456;ABBA01026457;ABBA01026458;AC010378;AF317220;AK001311;AK001428;AK310273;AMYH01015652;AMYH01015653;AY651263;BC019052;BC033349;BC048426;BQ186099;CH471062;L40146;NM_003339;NM_181838;U39317 AAA91460;AAC41750;AAH33349;AAK93958;AAX35690;BAG50891;BAG50911;EAW62095;EAW62096;EAW62097;NP_003330;NP_862821;P62837 Hs.108332 1650363;1780846;1788794;1797018;2127878;2184707 D5S1633E;D5S1932;RH137016;UBE2D2_1119;WI-13988;bac5252T E2(17)KB2;PUBC1;UBC4;UBC4/5;UBCH5B OTTHUMP00000223475;OTTHUMP00000223476;OTTHUMP00000223477;OTTHUMP00000223478;OTTHUMP00000224375;p53-regulated ubiquitin-conjugating enzyme 1;ubiquitin carrier protein D2;ubiquitin-conjugating enzyme E2 D2;ubiquitin-conjugating enzyme E2(17)KB 2;ubiquitin-conjugating enzyme E2-17 kDa 2;ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5);ubiquitin-conjugating enzyme e2d 2;ubiquitin-protein ligase D2 APPROVED protein-coding ENSG00000131508 12475 04268 602962 REVIEWED 1347506 UBE2D4 ubiquitin-conjugating enzyme E2D 4 (putative) 7 7 7 p13 43955900 43985602 + 43932572 43959688 + 43966035 43995735 + 6480464;6907045 16189514;15489334;15231748;14702039;12690205;12477932;19690564;17207965;19549727;21139048;21906983;21143188;21685362;22505724 51619 C9J9H9;F2Z3J6;F8WCA2;F8WE07;F8WEH7;H0YGA2;Q9UQL0;Q9Y2X8 AACC02000040;ABBA01058198;AC004985;AF125044;AF125045;AK001446;AK056566;AMYH01017207;AW014299;BC004104;BG499454;CH236951;CH471073;NM_015983 AAD31180;AAD31181;AAH04104;ADQ31771;BAA91697;EAL24010;EAW94178;EAW94179;EAW94180;EAW94181;EAW94182;EAW94183;EAW94184;NP_057067;Q9Y2X8 Hs.19196 1647987;1689452;1696990;1849392;2132399;2158410;5022200;5037552 A006U11;D7S1963;D8S2279;L18426;RH101967;RH35997;RH80360;SHGC-56058 FLJ32004;HBUCE1 OTTHUMP00000159220;OTTHUMP00000207576;ubiquitin carrier protein D4;ubiquitin-conjugating enzyme E2 D4;ubiquitin-conjugating enzyme HBUCE1;ubiquitin-protein ligase D4 protein-coding 21647 14242 VALIDATED 1605819 UBE2E4P ubiquitin-conjugating enzyme E2E 4 pseudogene X X X p22.2 18377517 18378878 + 14172208 14173566 + 14262187 14263548 + 15815621;15545318;15489334;15302935;10343118 286480 ABBA01071181;AC002524;AF136176;AMYH01022100;NG_004721 AAP97266 Hs.567831 1657797 T03564 UbcM2 pseudo 32199 INFERRED 1344235 UBE2D3 ubiquitin-conjugating enzyme E2D 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Multiple spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008] 4 4 q24 103936217 104009473 - 103717133 103790032 - 6480464;6484113;6907045 14667819;19549727;8090726;15621726;9990509;8530467;18515077;17420285;16344560;15489334;15280377;14702039;12867425;12732733;12670957;12477932;12215439;11927591;11485561;10835356;10329681;9488723;17682061;17965458;18498243;16169070;14562029;16189514;11743028;21226485;14765125;16522193;16628214;17588522;17719635;19690564;20051513;20332099;20347421;16341674;20696396;20860768;12525502;19088202;23357576;21572392;21963094;23000965;23277564;23408431;23509263;23530056;23550736;23555887;23560854;23604317;20017557;21964591;16196087;21113135;21772249;18838541;18851830;18948756;19240029;19250734;19393081;19500350;19656744;19675569;19683495;19713937;19741096;19782033;19913553;20170641;20237263;20351172;20453884;20484041;20484049;20553626;20596027;20618441;20621832;20624960;20631078;20638939;20655225;21825151;20675402;20704274;20858899;20864041;20943656;21035370;21060154;21965653;22032989;21228219;21292167;21331077;21376232;21402695;21531767;21572037;21597459;21625540;21676867;21685362;21726812;21726816;21756275;21813641;15852347;19712108;21399620;21518764;21900206;21987572;18541373;11027288;11245432;11486026;11714696;12230472;12629548;12646171;14676825;15200957;15247280;15367667;15448697;15466860;15546622;15601779;15611659;15684077;15886201;15960978;16682404;16714087;16714294;16818604;16861890;17203973;17205132;17283126;17420721;17462600;17544371;18093972;18485873;22053931;22113614;22185822;22223637;22334663;22373579;22483617;22505724;22570418;22613722;22626734;22745133;22863316;22904187;22989887;19322201;21139048;21890473;21906983;14690596;17452440;17709375;21143188;22069333;22350887;22551455 7323 D6R933;D6R980;D6R9F6;D6RA11;D6RAH7;D6RAW0;D6RGD0;D6RIZ3;D6RJB3;H9KV45;P61077 ABBA01063702;ABBA01063703;AC018797;AF116686;AF213884;AK095822;AK127304;AK315775;AL050186;AL833414;AMYH01014432;AU131013;AW675390;BC003395;BC037894;BC066917;BG613555;BM541512;BM750658;BM788287;BM967209;BQ428985;BU567649;BU570661;CH471057;CR456916;DA335600;DA494746;DA557036;DA588940;DA808523;DA965437;DB501483;HY035067;HY109217;NM_003340;NM_181886;NM_181887;NM_181888;NM_181889;NM_181890;NM_181891;NM_181892;NM_181893;U39318 AAA91461;AAF35234;AAF71106;AAH03395;AAH37894;AAH66917;BAC04632;CAG33197;EAX06138;EAX06139;EAX06140;EAX06141;EAX06142;EAX06143;EAX06144;EAX06145;EAX06146;EAX06147;NP_003331;NP_871615;NP_871616;NP_871617;NP_871618;NP_871619;NP_871620;NP_871621;NP_871622;P61077 Hs.518773;Hs.595430;Hs.621366 1299893;1654217;1676015;1676130;1676364;1745989;1767327;1848831;2133258;2173847;2180993;2184852 AFM265va9;D4S1572;G19979;RH125441;RH16693;SHGC-14304;SHGC-25108;SHGC-37168;SHGC-67354;SHGC-67367;SHGC-67632;STS-H95079 E2(17)KB3;MGC43926;MGC5416;UBC4/5;UBCH5C E2(17)KB 3;OTTHUMP00000161755;OTTHUMP00000161756;OTTHUMP00000161757;OTTHUMP00000161759;OTTHUMP00000161760;OTTHUMP00000216434;OTTHUMP00000219556;OTTHUMP00000219558;OTTHUMP00000219559;OTTHUMP00000219560;OTTHUMP00000219561;OTTHUMP00000219562;OTTHUMP00000219563;OTTHUMP00000219564;OTTHUMP00000219566;PRO2116;ubiquitin carrier protein D3;ubiquitin-conjugating enzyme E2 D3;ubiquitin-conjugating enzyme E2(17)KB 3;ubiquitin-conjugating enzyme E2-17 kDa 3;ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5);ubiquitin-protein ligase D3 APPROVED protein-coding ENSG00000109332 12476 04269 602963 REVIEWED 7174891 UBE2FP1 ubiquitin-conjugating enzyme E2F (putative) pseudogene 1 3 37185003 37185535 - 100421436 ABBA01024855;AC126118;AMYH01013086;NG_025564 pseudo 44535 INFERRED 7243433 UBE2F-SCLY UBE2F-SCLY readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring UBE2F (ubiquitin-conjugating enzyme E2F) and SCLY (selenocysteine lyase) genes on chromosome 2. The read-through transcript is a candidate for non-sense mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 14702039;20967262 100533179 ABBA01042599;ABBA01042600;ABBA01042601;AC016757;AC016776;AMYH01011600;AMYH01011601;AMYH01011602;NR_037904 Hs.471785 miscrna 48339 VALIDATED 1346022 UBE2E2 ubiquitin-conjugating enzyme E2E 2 3 3 3 p24.2 23181176 23568475 + 23219812 23607074 + 23244784 23632296 + 737633;1580863;6480464;6907045 12477932 16428300;18649358;15545318;15485925;11786535;11322894;11274149;11237715;10521492;9371400;8889548;7757816;20818381;19549727;19690564;18485199;20379614;18029348;15963787;18073335;21832049;22939629;20089136;18615712;19256485;20484052;20864041;20975683;21965653;17873885;18065497;19712108;20023648;21518764;21911360;16583136;18356159;19322201;21143188;22069333;21139048;21906983 7325 C9J180;F8W8F0;F8WF15;Q96LR5 ABBA01025042;ABBA01025043;ABBA01025044;ABBA01025045;ABBA01025046;ABBA01025047;AC092038;AC104741;AC116992;AC121251;AC135966;AK057886;AK307075;AMYH01013026;AMYH01013027;BC022332;CB851345;CH471055;NM_152653 AAH22332;BAB71605;EAW64321;EAW64322;EAW64323;EAW64324;EAW64325;NP_689866;Q96LR5 Hs.475688;Hs.595802 1667440;1691276;1698050;1735154;1735206;1756109;1777730;2107741;2118488;2142013;2156575 D3S2810E;D3S2864E;D3S3993;G16575;RH102556;RH80940;SHGC-142898;SHGC-37093;SHGC-63667;SHGC-76771;UBE2E2_7896 FLJ25157;UBCH8 OTTHUMP00000161048;OTTHUMP00000208342;OTTHUMP00000208352;ubiquitin carrier protein E2;ubiquitin-conjugating enzyme E2 E2;ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5);ubiquitin-protein ligase E2 APPROVED protein-coding 12478 06779 602163 VALIDATED 2301590 UBE2HP1 ubiquitin-conjugating enzyme E2H pseudogene 1 8 8 8 q21.13 78172072 78172957 + 82328919 82330360 + 82167120 82168005 + 646463 ABBA01004054;AC009902;AMYH01018830;NG_008822 2144481;5107213 G15859;G66159 UBE2HP APPROVED pseudo 31079 INFERRED 1354241 UBE2E1 ubiquitin-conjugating enzyme E2E 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 3 3 p24.2 23822443 23907811 + 23847384 23933131 + 1580863;6480464;6907045 16428300;14667819;8576257;11285280;14593737;10793135;9990509;11535616;11742988;12070128;10548110;11340163;18845142;18818210;18519031;18439907;15489334;12477932;11395416;11322894;11274149;10991948;10866800;8393731;16169070;18032921;15029244;15001359;16307923;16522193;17588522;18287095;19549727;19664638;19690564;11752173;14671314;22939629;21113135;21139048;21906983;11823428;12705856;15350225;16682404;17013377;17118964;17462600;17526739;18615712;18838541;19256485;19274063;19349376;19713937;19737936;20553626;20864041;21376232;21965653;22053931;22493164;9153201;15684077;17873885;19712108;20639865;21518764;15247280;11032817;14690596;15545318;17452440;21143188;22069333;22438555;22492721 7324 C9J2P0;H7C061;P51965 ABBA01025039;ABBA01025040;AC020626;AC124914;AK314854;AMYH01013029;AMYH01013030;BC009139;BF698653;BI223271;CH471055;DB478686;DB499676;NM_001202476;NM_003341;NM_182666;X92963 AAH09139;BAG37371;CAA63539;EAW64329;EAW64330;EAW64331;EAW64332;EAW64333;NP_001189405;NP_003332;NP_872607;P51965 Hs.164853 1335465;1722771;1735076;1735110;1751255;1752017;1998508;2120201;2120203;2136515 A002D48;D3S2762E;D3S2786E;D3S3700;G19969;G60324;REN70166;RH12890;SHGC-105057;SHGC-105968 UBCH6 OTTHUMP00000161049;OTTHUMP00000161050;OTTHUMP00000208307;OTTHUMP00000208308;OTTHUMP00000208309;ubiquitin carrier protein E1;ubiquitin-conjugating enzyme E2 E1;ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5);ubiquitin-protein ligase E1 APPROVED protein-coding ENSG00000170142 12477 04225 602916 REVIEWED 1350782 UBE2F ubiquitin-conjugating enzyme E2F (putative) 2 2 2 q37.3 232588691 232663675 + 238540439 238615423 + 238875587 238951423 + 6480464;6907045 19250909;15815621;15489334;12477932;19549727;15146197;23300442;22939629;16344560;19322201;23000965;23201271;22190037 140739 C9IZ93;C9J212;C9J9P8;C9JF62;C9JFD2;C9JSK8;F2Z363;F8WB39;F8WCT3;F8WD80;F8WDQ9;F8WFB7;G5E9R6;H9KVB9;Q969M7 ABBA01042599;AC016776;AF310723;AK290063;AK293334;AK294107;AK297502;AK303094;AMYH01011600;AMYH01011601;BC010549;BC039435;BM470609;BM920749;BQ959565;BX421077;CH471063;CN370973;CN370974;DA140546;DB118122;NM_001278305;NM_001278306;NM_001278307;NM_001278308;NM_080678;NR_103498;NR_103499;NR_103500 AAH10549;AAL26792;AAY24220;ADZ15835;BAF82752;BAG56850;BAG57442;BAG59915;BAG64204;EAW71128;EAW71129;EAW71130;EAW71131;EAW71132;EAW71133;EAW71134;NP_001265234;NP_001265235;NP_001265236;NP_001265237;NP_542409;Q969M7 Hs.471785 2163335;2186713 G35018;RH68499 MGC18120;NCE2 NEDD8 carrier protein UBE2F;NEDD8 conjugating enzyme;NEDD8 protein ligase UBE2F;NEDD8-conjugating enzyme 2;NEDD8-conjugating enzyme UBE2F;OTTHUMP00000164480;OTTHUMP00000202749;OTTHUMP00000202755;OTTHUMP00000202756;OTTHUMP00000202760;OTTHUMP00000202761;OTTHUMP00000202762;OTTHUMP00000202763;OTTHUMP00000202765;OTTHUMP00000202766;ubiquitin-conjugating enzyme E2 F;ubiquitin-conjugating enzyme e2f (ubc6 homolog, c. elegans) protein-coding ENSG00000184182 12480 14812 VALIDATED 1318925 UBE2E3 ubiquitin-conjugating enzyme E2E 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013] 2 2 q32.1 181553357 181636395 + 181845112 181928150 + 1580863;6480464;6907045 14667819;18029348;18614808;16713569;15815621;15761153;15545318;15489334;15302935;12477932;11809816;11322894;11274149;11042152;10582246;10343118;10187858;9734360;9409737;11389839;11823428;20484052;15001359;15017387;19690564;20190752;20379614;19549727;16341674;18202150;21552555;17873885;19712108;21518764;17452440;21143188;22069333;21139048;21906983;22318606;20639865;21963094;22053931;23000965;23275563;19256485;22496338;15146197;16344560;8889548;21965653 10477 Q969T4;R4GMM6;R4GN77;R4GND1;R4GNG6 AB017644;ABBA01062282;ABBA01062283;ABBA01062284;AC104076;AF085362;AK314145;AMYH01011314;BC003554;BC003687;BC092407;BI257596;BM762761;BQ932163;BT019345;BU608985;CH471058;CN369618;DA568152;DB458228;NM_001278554;NM_001278555;NM_006357;NM_182678 AAD40197;AAH03554;AAH92407;AAV38152;AAY14882;BAA76544;BAG36833;EAX10989;EAX10990;NP_001265483;NP_001265484;NP_006348;NP_872619;Q969T4 Hs.470804 1657797;2186697 SHGC-31338;T03564 UBCH9;UbcM2 OTTHUMP00000163407;OTTHUMP00000205276;OTTHUMP00000205277;OTTHUMP00000205278;OTTHUMP00000205280;OTTHUMP00000206310;ubiquitin carrier protein E3;ubiquitin-conjugating enzyme E2 E3;ubiquitin-conjugating enzyme E2-23 kDa;ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast);ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5);ubiquitin-protein ligase E3 APPROVED protein-coding ENSG00000170035 12479 05000 604151 REVIEWED 1353011 UBE2G1 ubiquitin-conjugating enzyme E2G 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008] 1 17 17 p13.2 4183990 4282343 - 4119261 4216718 - 4172512 4269969 - 6480464;6907045 8893823;15489334;12933904;12665801;12477932;11439185;11278356;11032556;10558980;10521492;9693041;8393731;17452445;15673284;19549727;22318606;21628527;21832049;22939629;19560420;21139048;21890473;19322201;12847084;15603737;16446428;16862145;17131388;19661182;20940148;21209460;22016339;22323446;22505724;22826439 7326 I3L0Q0;I3L2H7;I3L2Q4;K7EPR7;P62253 ABBA01054759;ABBA01054760;ABBA01054761;ABBA01054762;AC087742;AC116910;AI493944;AK313059;AMYH01008035;AMYH01008036;BC002775;BC017006;BC026288;BG703127;BI601205;BT007416;BU161770;CD250951;CH471108;CQ840929;D78514;FB353539;NM_003342 AAH02775;AAH26288;AAP36084;AAP36947;BAA11410;BAG35889;CAH05704;CAR82353;EAW90441;EAW90442;EAW90443;EAW90444;EAW90445;EAW90446;NP_003333;P62253 Hs.741319 1734392;1735814;1736642;1736654;1736929;1767171;2110785;2121276;2159939;2161921;5019593;5092422;5092424;5092452;5092464;5092470;5092928;5109789;5122061 A009C27;D17S1364E;D17S1480E;D17S1488E;D17S1490E;D17S1572;D17S2042;D8S1423E;G32418;G54291;G54298;G54301;G54302;G54307;G54308;RH47218;RH71332;STS-AA011217;UBE2G1_7897 E217K;UBC7;UBE2G ubiquitin carrier protein G1;ubiquitin-conjugating enzyme E2 G1;ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast);ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7);ubiquitin-protein ligase G1 APPROVED protein-coding ENSG00000132388 12482 03340 601569 REVIEWED 1346213 UBE2L1 ubiquitin-conjugating enzyme E2L 1 q24.3 10760570;8563171;15256223 7330 AJ007635;AL158801;NG_003101;S81005 1862752 REN2036 L-UBC;UBC4;UBCL;UBEL1 pseudo 12486 600012 1350715 UBE2L2 ubiquitin-conjugating enzyme E2L 2 (pseudogene) 12 q12 20602372 20603067 - 8672131;10760570;8672131 100506424;7331 ABBA01067955;AC129029;AMYH01004317;NG_029060;NG_030033 APPROVED pseudo 12487 INFERRED 1320678 UBE2H ubiquitin-conjugating enzyme E2H The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011] 7 7 q32 129260231 129380025 - 129470572 129592800 - 6480464;6907045 8132613;18029348;19058789;15489334;15388255;14722266;14702039;14639049;12853948;12690205;12477932;10860668;8543049;7761435;15107846;14690596;22493095;17588522;19922136;20028976;19549727;19690564;22863883;14671314;12705856;16472766;17462600;20864041;21070970;21256161;22616001;22939629;21139048;21890473;19322201 7328 A4D1L5;C9J8Q9;C9JZG9;C9JZY6;H7C4M9;P62256 AACC02000034;AB451490;ABBA01057614;ABBA01057615;ABBA01057616;ABBA01057617;ABBA01057618;ABBA01057619;ABBA01057620;AC073320;AC084865;AK024519;AK026094;AK091088;AK316590;AL832212;AMYH01017933;AY302138;BC006277;BI088146;BT006756;CB995681;CH236950;CH471070;NM_001202498;NM_003344;NM_182697;Z29328;Z29330;Z29331 AAH06277;AAP35402;AAP57630;AAS07548;ADZ15826;BAG70304;CAA82525;CAA82527;CAA82528;EAL24098;EAL24099;EAW83733;EAW83734;EAW83735;EAW83736;EAW83737;NP_001189427;NP_003335;NP_874356;P62256 Hs.643548 1648704;1650908;1652272;1657246;1670361;1674280;1689292;1701010;1846610;1846637;1848430;2114498;2118699;2128669;2132643;2138763;2144481;2145045;2165947;2177552;7187029 A008X46;D7S1462;D7S2052E;D7S2072E;D7S2638;G15859;HSC01F092;RH104132;RH12795;RH16438;RH36422;RH45635;RH69712;RH70187;SHGC-35496;STS-H93071;STS-Z29330;WI-11310;WI-12125;WI-14752 E2-20K;GID3;UBC8;UBCH;UBCH2 GID complex subunit 3, UBC8 homolog;OTTHUMP00000212335;OTTHUMP00000212336;OTTHUMP00000212338;OTTHUMP00000212339;OTTHUMP00000212355;ubiquitin carrier protein H;ubiquitin-conjugating enzyme E2 H;ubiquitin-conjugating enzyme E2-20K;ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast);ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8);ubiquitin-protein ligase H APPROVED protein-coding ENSG00000186591 12484 03052 601082 REVIEWED 1345330 UBE2L4 ubiquitin-conjugating enzyme E2L 4 19 19 19 q13.2 9780579 9781042 + 9746173 9746636 + 9885173 9885636 + 9605847;10760570 7333 ABBA01029963;AC008752;AMYH01009461;NG_001209;Y09515 pseudo 12489 INFERRED 2303330 UBE2L5P ubiquitin-conjugating enzyme E2L 5 (pseudogene) 13 13 13 q12.3 12071675 12072031 + 29900122 29900478 + 31002122 31002478 + 171222 ABBA01035699;AF352693;AL161893;AMYH01005008;NG_001319 1822916;1829386;1833528;1862732;1862734;1862736;1862738;1862740;1862742;1862744;1862746;1862748;1862750;1862752;1862754;1862756;2197592;2197594 ECD12546;ECD15824;ECD17907;REN2026;REN2027;REN2028;REN2029;REN2030;REN2031;REN2032;REN2033;REN2034;REN2035;REN2036;REN2037;REN2038;stSG616857;stSG616858 UBCH7N2;UBE2L5 APPROVED pseudo 13477 INFERRED 1312877 UBE2J1 ubiquitin-conjugating enzyme E2, J1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008] 6 6 6 q15 90454855 90481153 - 90093063 90119338 - 90036344 90062619 - 1580863;6480464;6907045 12082160;11042152;10810093;10708578;8125298;16720581;15861135;15489334;14574404;12477932;11439185;20222955;19549727;19690564;21245296;23097496;21139048;21890473;21906983;18711132;20435896;21857022;12933904;16442531;19322201;16901789;12150907;15603737;16862145;21594788 51465 Q9P0S0 AB075487;ABBA01040529;ABBA01040530;AF151039;AF151834;AF161502;AJ245898;AJ420479;AJ420522;AJ420578;AJ420600;AK223464;AK290574;AK300629;AL121833;AL138717;AL139804;AMYH01016501;AMYH01016502;BC013973;BF058850;CH471051;NM_016021;U93243 AAD34071;AAF21505;AAF29117;AAF36125;AAH13973;ABM86070;ABW03768;BAD97184;BAF83263;BAG62320;CAB83212;EAW48555;EAW48556;NP_057105;Q9Y385 Hs.163776 1656441;1665751;1701370;1852412;2179474 D6S1202E;RH104315;RH47544;SHGC-56767;WI-11949 CGI-76;HSPC153;HSPC205;HSU93243;MGC12555;NCUBE-1;NCUBE1;UBC6;Ubc6p HSUBC6e;OTTHUMP00000016852;OTTHUMP00000245850;non-canonical ubiquitin-conjugating enzyme 1;non-canonical ubquitin conjugating enzyme 1;ubiquitin-conjugating enzyme E2 J1;ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast);ubiquitin-conjugating enzyme E2, J1, U;yeast ubiquitin-conjugating enzyme UBC6 homolog E APPROVED protein-coding ENSG00000198833 17598 15599 REVIEWED 1345214 UBE2L7P ubiquitin-conjugating enzyme E2L 7 pseudogene 14 14 14 q22.3 35745398 35746141 + 54765573 54766455 + 55695911 55696654 + 283556 AF300336;AF352694;AL158801;NG_002490 UBCH7N3;UBE2L7 pseudo 20057 600012 1312541 UBE2G2 ubiquitin-conjugating enzyme E2G 2 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 21 21 q22.3 45013383 45046166 - 46188495 46221751 - 6480464;6907045 17681147;9693041;16780588;17353931;16582478;16407162;15489334;14702039;12869571;12477932;11724934;11278356;11032556;10991948;10830953;10558980;10521492;9925943;8393731;19690564;17310145;20014027;16344560;8889548;21127063;21098018;23223569;23370391;12150907;17553932;19103148;19269966;21694720;22505724;21139048;21890473;21906983;16214370;19223579;20682791;21143188;21636303;21857022 7327 F8WCB9;F8WDB1;P60604 ABBA01074172;ABBA01074173;AF032456;AK075143;AK122700;AK290629;AL163300;AL773604;AL834129;AMYH01012298;BC001738;BC008351;BC011569;BC017241;BC054341;BE292782;BG702453;BT006914;BU741369;CH471079;DA710059;NM_001202489;NM_003343;NM_182688 AAC32312;AAH01738;AAH08351;AAH11569;AAP35560;ADZ16054;BAF83318;BAG53675;CAB90551;CAD38846;EAX09395;EAX09396;EAX09397;EAX09398;EAX09399;EAX09400;NP_001189418;NP_003334;NP_872630;P60604 Hs.529420;Hs.701398 1666053;1735028;1752657;1768201;2141654;5022578;5022651 D11S2921;D1S1423;D21S1723E;SHGC-106500;SHGC-87696;SHGC-87700;SHGC-87701 UBC7 OTTHUMP00000113174;OTTHUMP00000214679;ubiquitin carrier protein G2;ubiquitin conjugating enzyme 7;ubiquitin conjugating enzyme G2;ubiquitin-conjugating enzyme E2 G2;ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast);ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7);ubiquitin-protein ligase G2 APPROVED protein-coding ENSG00000184787 12483 04387 603124 REVIEWED 1602247 UBE2MP1 ubiquitin-conjugating enzyme E2M pseudogene 1 16 16 16 p11.2 66788734 66789694 - 34261303 34262263 - 34403802 34404762 - 606551 ABBA01002118;AC023824;AMYH01007634;AW376368;NR_002837 Hs.646441 1687497;2191771 MARC_7283-7284:996687724:1;RH79852 pseudo 32195 PROVISIONAL 1343973 UBE2J2 ubiquitin-conjugating enzyme E2, J2 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 1 1 1 p36.33 1373022 1393007 + 1179155 1199097 - 1189292 1209234 - 1580863;6480464;6907045 16720581;16341674;16303743;14702039;12477932;11278356;8393731;19549727;20061386;21139048;21890473;21906983;22496338;22645275 118424 A6NGS0;B1AMF0;B1AMF1;D6R9H0;D6RA15;D6RB84;D6RC43;D6RD90;D6REN4;Q8N2K1 ABBA01016025;ABBA01016026;ABBA01016027;AF116687;AF296658;AK056065;AK075017;AK098803;AK291935;AL162741;AL555293;AMYH01000120;AMYH01000121;AW411508;BC027728;BC052579;BC094777;BC104890;BC113430;BC143657;BE382927;BE515187;BG112933;BG499172;BG717336;BM544827;BM765278;BM794599;BM926567;BQ881730;CH471183;NM_058167;NM_194315;NM_194457;NM_194458 AAF71107;AAH94777;AAI04891;AAI13431;AAI43658;AAK52609;ADR83504;BAB71086;BAC11355;BAF84624;EAW56255;EAW56256;EAW56257;EAW56258;EAW56259;EAW56260;EAW56261;EAW56262;EAW56263;EAW56264;EAW56265;EAW56266;EAW56267;NP_477515;NP_919296;NP_919439;NP_919440;Q8N2K1 Hs.191987 1648017;1650873;1675895 RH76780;SHGC-74096;WI-14412 NCUBE-2;NCUBE2;PRO2121 OTTHUMP00000001907;OTTHUMP00000001908;OTTHUMP00000002077;OTTHUMP00000002078;OTTHUMP00000220526;OTTHUMP00000220527;non-canonical ubiquitin-conjugating enzyme 2;ubiquitin conjugating enzyme 6;ubiquitin conjugating enzyme E2, J2;ubiquitin-conjugating enzyme E2 J2;ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast);yeast UBC6 homolog APPROVED protein-coding ENSG00000160087 19268 15600 REVIEWED 734464 UBE2I ubiquitin-conjugating enzyme E2I The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 16 16 p13.3 1299181 1315391 + 1359154 1377019 + 1302873;1642482;730030;2301343;2301345;6480464;6907045 11020223;17486098;9013644;16407042;15735760 9885291;12072434;14516784;16631117;8565643;8610150;19358266;19343802;19287951;18691969;18660489;18655774;18321803;18211895;17987106;17956732;17698038;17671234;17466333;17391059;17297476;17105732;17037517;17005699;16998888;16732283;16730941;16713569;16620772;16566921;16494873;16469311;16455490;16455055;16421094;16248985;16189514;16169070;16154161;15952105;15931224;15881673;15876874;15820677;15723523;15666801;15635413;15616553;15611122;15608651;15588942;15489334;15378033;15327968;15246872;15231748;15210726;15192080;15087395;14765993;14752048;14702039;14609633;14578449;14556380;14517060;12924945;12813045;12761287;12679040;12641448;12633878;12621041;12620973;12615929;12477932;12419227;12356736;12200128;12192048;12177000;12150977;12110916;12082530;12023963;12021447;11960997;11927605;11877416;11853669;11842083;11812797;11792325;11779867;11735126;11451954;11447110;11367701;11278694;11278381;11157797;11112409;11085938;11025202;10806190;10759568;10737800;10694430;10655495;10535925;10497239;10383460;10377438;9920803;9855622;9563508;9488727;9334332;9333025;9261152;9257699;9197546;9067428;8921390;8824223;8798754;8798622;8733011;8668529;8668125;15613319;17646165;11583632;17353931;10961991;10380882;14531806;15806172;15592428;9223484;15546615;9514881;10788439;23187003;23417673;23788427;17283066;21518904;20561671;12354770;12674497;15604093;15896780;16098147;17036045;17087506;17491593;17533377;18628979;19640976;19684601;19744555;19765634;19836047;19859084;20023705;19760037;16029420;19549727;19955185;20016594;20016603;20936779;21047957;18946085;20863840;16421255;18625722;20209145;21216249;16166628;16212558;21147068;11867732;15312759;15637079;15829507;18087039;11384992;17967884;22863883;20351170;21344391;19965618;20555024;14673145;18684836;19766626;21880185;22797925;22939629;21113135;21120624;21174150;21510985;21795333;21836637;21467194;18624398;19597476;20359522;20360068;20671745;20696768;20972456;21070824;21139563;21203974;21288202;21829513;21971700;21988832;22614022;23000965;23395904;23404503;22114711;19471022;21139048;21693764;21890473;21906983;22578841;23128241;23131550;23155000;23264041;11709548;12565873;12727872;12788062;14517261;14527952;15105549;15123615;15539951;15802564;15809060;15882978;15958389;15983381;16061479;16148010;17087659;17261810;17314004;17336575;17498654;17704809;17709345;17823119;18408014;18538659;18706886;18819927;19218564;19407830;19553542;19616115;19727227;19843541;19946338;20501649;20797634;20805487;21319273;21336309;21940674;21949651;21965678;21998312;22155184;22162396;22194619;22214662;22403398;22407595;22411991;22464730;22623531;22731716;22825850;22910413;8940097;9353268;9497385;23455924;23470653 7329 A8K503;B0QYN7;H3BPC4;H3BQQ9;H3BRD1;P63279 AB208988;ABBA01030312;ABBA01030313;AC120498;AE006466;AJ002385;AK024172;AK093616;AK291118;AL031714;AL833737;AMYH01007031;BC000427;BC000744;BC004429;BC004437;BC014997;BC051289;BC064492;BC069256;BE262845;BF315618;BG530957;BI523501;BI793063;BQ230918;BQ358820;BT006932;BT007010;BU146357;BU543455;CD249028;CH471112;CX788607;D45050;HC437980;HC449951;NM_003345;NM_194259;NM_194260;NM_194261;U29092;U31882;U31933;U38785;U45328;U66818;U66867;X96427 AAA86662;AAB02181;AAB09410;AAC50603;AAC50715;AAC50716;AAC51361;AAH00427;AAH04429;AAH51289;AAK61274;AAP35578;AAP35656;ABM82299;ABM85478;BAA08091;BAD92225;BAF83807;CAA05359;CAA65287;CBJ93564;CBK25700;EAW85673;EAW85674;EAW85675;EAW85676;EAW85677;EAW85678;EAW85679;NP_003336;NP_919235;NP_919236;NP_919237;P63279 Hs.302903 1653716;1852468;2132425;2162660;2183750;2218132;5019775;5020343 A009S20;G32807;RH70600;RH79139;SHGC-60704;SHGC-60764;SHGC-61088;UBE2I_3883 C358B7.1;P18;UBC9 OTTHUMP00000045512;OTTHUMP00000158627;OTTHUMP00000158628;OTTHUMP00000158629;OTTHUMP00000198126;OTTHUMP00000198127;OTTHUMP00000198131;SUMO-1-protein ligase;SUMO-conjugating enzyme UBC9;SUMO-protein ligase;ubiquitin carrier protein 9;ubiquitin carrier protein I;ubiquitin conjugating enzyme 9;ubiquitin-conjugating enzyme E2 I;ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast);ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9);ubiquitin-conjugating enzyme UbcE2A;ubiquitin-conjugating enzyme e2i;ubiquitin-like protein SUMO-1 conjugating enzyme;ubiquitin-protein ligase E2I;ubiquitin-protein ligase I APPROVED protein-coding ENSG00000103275 12485 09045 601661 REVIEWED 1352894 UBE2NP1 ubiquitin-conjugating enzyme E2N pseudogene 1 14 q11.2 22079928 22080598 - 8188290;9110172 100288613;317770 ABBA01061262;AE000521;AE000658;AMYH01005596;NG_031850 pseudo 20337 INFERRED 1343621 UBE2NL ubiquitin-conjugating enzyme E2N-like This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. [provided by RefSeq, Dec 2009] X X X q27.3 143254462 143255646 + 142794839 142796028 + 142967173 142968362 + 6480464;6907045 15772651;17643375;20736409;21890473;21906983 389898 Q5JXB2 ABBA01066437;ABBA01066438;AL109622;AL135920;AMYH01023125;GU727624;NG_016268;NM_001012989 ADU87626;CAB72341;NP_001013007;Q5JXB2 Hs.585177 1701804;5113181 DXS7902;RH80774 Li174 OTTHUMP00000024189;epididymis tissue protein Li 174;putative ubiquitin-conjugating enzyme E2 N-like APPROVED protein-coding ENSG00000102069 31710 18504 REVIEWED 1317456 UBE2L6 ubiquitin-conjugating enzyme E2L 6 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011] 11 11 q12 57075705 57092029 - 57319128 57335803 - 1580863;6480464;6907045 15107846;12477932;10085091;9153201;18029348;18583345;16583136;15670748;15131269;14702039;12121982;12075357;11786535;11237715;11078524;10894956;10866800;10558980;10521492;11722579;17433363;19549727;16427630;16709802;19690564;19928833;20508617;18057259;18073335;16344560;17456438;21628527;21139048;22145905;21900206;16009940;22037423;22271254;21694720 9246 E9PKW8;E9PQT7;O14933 ABBA01021474;AF031141;AF061736;AJ243268;AK093462;AK129621;AK226165;AK315755;AMYH01003652;AP002893;BC032491;CH471076;CR457126;DA097307;H17887;NM_004223;NM_198183 AAB86433;AAD17525;AAH32491;ABM82217;ABM85401;BAG38109;CAB64566;CAG33407;EAW73755;EAW73756;EAW73757;EAW73758;EAW73759;NP_004214;NP_937826;O14933 Hs.425777 1650212;1712090;2150077 G54094;RH11705;STS-M79143 MGC40331;RIG-B;UBCH8 OTTHUMP00000234887;OTTHUMP00000234888;OTTHUMP00000234889;OTTHUMP00000234890;retinoic acid induced gene B protein;retinoic acid-induced gene B protein;ubiquitin carrier protein L6;ubiquitin-protein ligase L6;ubiquitin/ISG15-conjugating enzyme E2 L6 APPROVED protein-coding ENSG00000156587 12490 04867 603890 REVIEWED 6480820 UBE2Q1-AS1 UBE2Q1 antisense RNA 1 100874097 AL592078;AW070285 Hs.608237 APPROVED miscrna 40722 1323181 UBE2K ubiquitin-conjugating enzyme E2K The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 4 4 p14 39376266 39457977 + 39699664 39784412 + 6480464;6907045 17353931;16714285;8702625;17873885;17092742;16868077;16344560;15489334;15383276;14702039;12665801;12477932;11513855;10675012;10634809;10222105;9857030;9535861;9700202;18691969;15723079;18710920;8125920;20537984;16877356;17719635;19549727;20826778;21281599;22939629;17558393;15280377;22318606;18781797;19712108;20639865;20965177;21139048;21139563;21693764;21890473;21900206;21906983;22164771;19471022;10668806;22496338;16007098;17429078;18485873;22505724 3093 B4DIZ2;D6RDM7;D6RFX1;Q9CVV9 AB022435;AB022436;ABBA01004133;ABBA01004134;ABBA01004135;ABBA01004136;ABBA01004137;AC105287;AC108471;AK093533;AK291454;AK295846;AK307130;AK315524;AL117568;AMYH01014119;AMYH01014120;AMYH01014121;BC022804;BC050600;BU622273;BX641089;CH471069;CX786829;DA526283;NM_001111112;NM_001111113;NM_005339;U58522 AAC50633;AAH22804;AAH50600;ABZ92425;BAA78555;BAA78556;BAF84143;BAG37905;BAG52736;BAG58654;EAW92946;EAW92947;EAW92948;EAW92949;EAW92950;NP_001104582;NP_001104583;NP_005330;P61086 Hs.50308 1657422;1682099;1685413;1735370;2157534;2178199;2191421;5091074 D4S2502E;G09829;MARC_21748-21749:1023808694:5;NIB2199;RH28678;RH98998;SHGC-67813;WI-14270 DKFZp564C1216;DKFZp686J24237;E2-25K;HIP2;HYPG;LIG;UBC1 E2(25K);HIP-2;OTTHUMP00000218439;OTTHUMP00000218440;OTTHUMP00000218441;OTTHUMP00000218442;huntingtin interacting protein 2;huntingtin-interacting protein 2;ubiquitin carrier protein;ubiquitin-conjugating enzyme E2 K;ubiquitin-conjugating enzyme E2(25K);ubiquitin-conjugating enzyme E2-25 KDA;ubiquitin-conjugating enzyme E2-25K;ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast);ubiquitin-protein ligase APPROVED protein-coding ENSG00000078140 4914 04165 602846 REVIEWED 1604922 UBE2Q2P1 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 15 15 15 q25.2 61507287 61539558 - 82871431 82915030 - 85070427 85114026 - 388165 ABBA01052939;ABBA01052940;AC048382;AK125266;AMYH01006869;NR_003661 BAC86104 Hs.498348 1783294;5014051;5015961;5021872;5022578;5037552 D15S1477;D1S1423;D8S2278;D8S2279;SHGC-172055;sY3084 FLJ43276;UBE2QP1 APPROVED pseudo ENSG00000189136 37439 13471 PROVISIONAL 1318085 UBE2L3 ubiquitin-conjugating enzyme E2L 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] 22 22 q11.21 20251957 20308323 + 21903736 21978323 + 6480464;6907045 8563171;8576257;9990509;8672131;18996392;18805400;16703398;16169070;15489334;15461802;15107846;14702039;12794086;12732733;12620973;12612082;12477932;12215439;11278816;11274149;11237715;11078524;10966114;10760570;10558980;10531381;10521492;10431818;9693040;8144544;16356860;14623119;12234920;17353931;9153201;10329681;14690596;15062086;15545318;16061177;16096643;17433363;17603074;18615712;19322201;19340006;19899154;21628590;21694720;22037423;22069333;22271254;22294623;22350887;8144545;8524278;9628897;21383967;20601676;19850743;16735510;19549727;20139978;10888878;14765125;15367689;16118314;16427630;16709802;17003263;17588522;17719543;17996703;18498246;18946090;19838193;20039703;20190752;20962850;21068098;21102463;21408207;11431533;12525502;10973942;21532592;21986318;22008525;22009753;22053931;22476155;22505724;22614015;22939629;22990118;9575161;9688277;10373495;11590439;12145308;12526791;14559152;15350225;15678106;15933713;16246731;16332688;16472766;16682404;16714300;17038327;17553932;17592138;18303026;18718449;19204938;19240029;19274063;19364824;19591933;19713937;19880420;20007713;20051513;20068034;20086093;20351251;20589759;20858899;20864041;20940148;20951678;21209200;21292769;21376232;21513699;21953697;20089136;15852347;21900206;22081612;16344560;19712108;20639865;22045845;12938929;21139048;21890473;21906983;21963094;22308380;20686565;19738201;19805454;21572392;23000965;23128233;23222517;23273568;23277564;23549616 7332 P68036 ABBA01055051;ABBA01055052;ABBA01055053;ABBA01055054;ABBA01055055;AJ000519;AK125396;AK291083;AK293179;AK299985;AK311761;AMYH01012636;AP000553;AP000557;AP000558;BC053368;BU567707;BU584304;CD690076;CH471095;CR456606;DA271653;HC309816;NM_001256355;NM_001256356;NM_003347;NR_028436;NR_046082;S81003;X92962 AAB36017;AAH53368;BAF83772;BAG34704;BAG56722;BAG61806;CAA04156;CAA63538;CAG30492;CAK54633;CAK54932;CBJ21215;EAW59459;EAW59460;NP_001243284;NP_001243285;NP_003338;P68036 Hs.108104 1679672;1706886;1768181;1784548;1854861;1862752;2111131;2111968;2218850 A002P29;A004W47;D22S1588;D22S413E;REN2036;RH91525;SHGC-172570;SHGC-80930;UBE2L3_3884 E2-F1;L-UBC;UBCH7;UbcM4 OTTHUMP00000198565;ubiquitin carrier protein L3;ubiquitin-conjugating enzyme E2 L3;ubiquitin-conjugating enzyme E2-F1;ubiquitin-conjugating enzyme UBCH7;ubiquitin-protein ligase L3 APPROVED protein-coding ENSG00000185651 12488 04762 603721 REVIEWED 1316910 UBE2M ubiquitin-conjugating enzyme E2M The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008] 19 19 19 q13.43 56110258 56113522 - 63758891 63762155 - 59067079 59070343 - 1559272;6480464;6907045 15694336 10722740;19250909;15361859;9694792;18826954;17353931;16620772;15489334;12522145;12477932;10828074;10207026;18652489;21145461;16735510;19549727;16341674;17643375;21832049;22388932;22939629;21477582;22318606;18274552;19245792;19953087;21139048;21890473;21906983;21940857;21946088;21963094;12565873;16503656;17220875;19738201;21765416;22412018;22623428;23000965;23201271;23267066;23383273;11574546;15242646;16275327;18096514;20353940;21247897;21853274;21987584;22505724;22797925 9040 M0QX69;M0QYI6;P61081 AB012191;ABBA01020759;AC016630;AF075599;AL569047;AMYH01010041;BC058924;BM559596;BM798750;BT006754;BU508830;BX342697;CH471135;NM_003969 AAC26141;AAH58924;AAP35400;BAA33145;EAW72612;EAW72613;NP_003960;P61081 Hs.406068 1669490;1687497;2110787;2191771 MARC_7283-7284:996687724:1;RH79852;STS-N23430;UBE2M_7933 UBC-RS2;UBC12;hUbc12 NEDD8 carrier protein;NEDD8 protein ligase;NEDD8-conjugating enzyme Ubc12;ubiquitin carrier protein M;ubiquitin-conjugating enzyme E2 M;ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast);ubiquitin-protein ligase M;yeast UBC12 homolog APPROVED protein-coding ENSG00000130725 12491 04414 603173 REVIEWED 2837480 UBE2Q2P4Y ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked Y Y 10549330 10555497 - 26378973 26385140 - 100421716 ABBA01030399;AC012005;NG_021926 UBE2Q2PY1 pseudo 38429 INFERRED 3231869 UBE2Q2P3 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3 15 15 15 q25.2 59611080 59645843 + 80820782 80881788 + 83023773 83084733 + 16344560 100133144 ABBA01009561;AC011295;AMYH01006854;BI916968;BQ549460;DA527368;NR_024474 Hs.735157 5015861;7185938 D10S16 pseudo 37669 VALIDATED 4108527 UBE2Q2P5Y ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked Y 27577294 27583462 + 100421717 AC006328;NG_004755 UBE2Q2PY2 pseudo 38466 VALIDATED 1348630 UBE2N ubiquitin-conjugating enzyme E2N The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008] 12 12 q22 92326219 92360157 - 93802088 93836026 - 5490218;5490215;5685014;6480464;6484113;6907045 18535784;20086235;21235323 14695475;16122702;17349954;15125833;16129784;8902611;16130169;19651615;19269966;19165527;19034380;18391951;18077395;17942533;17709375;16396496;16307917;16215985;16112642;15749714;15489334;15231748;14702039;14562038;12881723;12705856;12569095;12477932;12039045;11473255;11473244;11057907;10089880;8889548;17994549;18316726;18178771;18032921;21226485;20546612;15147900;17000756;17060341;17135271;19203578;19340006;19465916;19549727;19615732;19690564;21048031;15276183;17997719;23115235;23255131;20577214;20864041;20940148;21204785;21512569;21512573;21572451;21575904;21694720;21706008;21734303;21866272;21903422;21965653;22053931;22493164;22505724;22939629;23007157;12847084;15258597;15327770;17553932;17846173;18617513;19393081;19880420;20047764;20553626;16196087;19810754;20725033;21774837;21622030;20146531;21113135;20023648;21114314;17873885;18781797;19712108;20613989;20639865;21518764;21911360;21987572;22184250;12938929;20972266;21139048;21890473;21906983;12834344;14517261;16009940;16547522;17108083;17327397;18029035;18615712;18678647;18838541;19013454;19322201;21143188;21319273;22055568;22367539;22433856;22589545;22679021;22693631;22797923;9644242 7334 F8VQQ8;F8VSD4;F8VV71;F8VZ29;P61088 ABBA01053376;AC025260;AK098233;AL110140;AMYH01004659;BC000396;BC003365;BC108704;BI459891;BT006873;CB243041;CH471054;D83004;E12457;NM_003348 AAH00396;AAH03365;AAI08705;AAP35519;ABM87762;ABW03914;ABW03917;BAA11675;EAW97480;EAW97481;EAW97482;NP_003339;P61088 Hs.524630 1659186;2123946;2157648;2178766;5113181 BCD1455;NIB1585;RH80774;STS-N63414;WI-19812 MGC131857;MGC8489;UBC13;UbcH-ben;UbcH13 OTTHUMP00000243086;OTTHUMP00000243090;bendless-like ubiquitin conjugating enzyme;bendless-like ubiquitin-conjugating enzyme;ubiquitin carrier protein N;ubiquitin-conjugating enzyme E2 N;ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast);ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13);ubiquitin-protein ligase N;yeast UBC13 homolog APPROVED protein-coding 12492 04725 603679 REVIEWED 1313256 UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008] 1 1 1 q21.3 127592683 127602752 - 152787675 152797744 - 154521051 154531120 - 1580863;6480464;6907045 22167327;16275660;16710414;15489334;14702039;12477932;12107410;11230159;18511602;19549727;19690564;21139048;21890473;22124266;20682791 55585 Q29SN7;Q9UGL6 ABBA01049489;ABBA01049490;AF116721;AJ243666;AK056388;AK293986;AL592078;AMYH01001418;AY112698;AY948200;BC000848;BC009286;BC015316;BC061583;BC070158;BC087836;BC107057;BC148185;BQ278712;CA391436;CH471121;CR457219;NM_017582 AAF71141;AAH00848;AAH15316;AAH61583;AAH70158;AAH87836;AAI07058;AAI48186;AAI72317;AAM60814;AAY23342;BAB71173;BAG57353;CAB65097;CAG33500;EAW53193;NP_060052;Q7Z7E8 Hs.607928 1647678;1851472;5126688 A002R33;D1S3272;WI-19713 GTAP;NICE-5;PRO3094;UBE2Q OTTHUMP00000035378;galactosyl transferase-associated protein;protein NICE-5;ubiquitin carrier protein Q1;ubiquitin-conjugating enzyme E2 Q1;ubiquitin-conjugating enzyme E2Q (putative) 1;ubiquitin-conjugating enzyme e2q (putative);ubiquitin-protein ligase Q1 APPROVED protein-coding ENSG00000160714 15698 15601 REVIEWED 1604198 UBE2SP1 ubiquitin-conjugating enzyme E2S pseudogene 1 17 17 p11.2 15548018 15549098 - 15607393 15608405 - 246719 ABBA01035680;AC005324;AMYH01008142;NG_001583 pseudo 30864 INFERRED 5684197 UBE2SP2 ubiquitin-conjugating enzyme E2S pseudogene 2 17 p11.2 18580574 18581325 + 440406 AC026271;AMYH01008179;NG_031882 pseudo 32196 INFERRED 2816376 UBE2Q2P2 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2 15 15 q25 59611080 59645451 + 82647286 82707816 + 12477932;15146197;16344560 100134869 AC135995;AC139425;BC066934;CN343524;DA778756;NR_004847 Hs.735222 MGC87249;UBE2QP2 pseudo 37440 PREDICTED 1605308 UBE2Q2 ubiquitin-conjugating enzyme E2Q family member 2 15 15 15 q24.2 53061306 53119318 + 73922855 73980440 + 76135622 76193388 + 6480464;6907045 17471241;16300736;15489334;12477932;19723876;20193842;20383146;19549727;19690564;17207965;21113135;21139048;19322201;23263486;22642244 92912 C9JX13;E9PHD0;H3BN94;H3BV95;Q8WVN8 AA476260;ABBA01060540;ABBA01060541;AC019294;AC027104;AK000617;AK294199;AK296234;AL117641;AL832429;AMYH01006819;BC006827;BC017708;BC034342;CH471136;NM_001145335;NM_173469 AAH06827;AAH17708;AAH34342;ADQ32710;BAG57513;BAH12288;CAH10654;EAW99233;EAW99234;NP_001138807;NP_775740;Q8WVN8 Hs.23033 1656075;1666531;1699248;1737963;1752563 D11S3570;G17835;RH103205;SHGC-106475;STS-N25939 DKFZp762C143 OTTHUMP00000183523;ubiquitin carrier protein Q2;ubiquitin-conjugating enzyme E2 Q2;ubiquitin-protein ligase Q2 protein-coding ENSG00000140367 19248 14294 612501 VALIDATED 1352007 UBE2V1P1 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 20 20 20 p13 3403128 3404990 - 3290436 3291056 - 3341131 3342993 - 170556 ABBA01053822;AL117334;AMYH01011673;NG_001061;NG_031974 dJ687F11.3 pseudo 16581 INFERRED 1606786 UBE2O ubiquitin-conjugating enzyme E2O 17 17 17 q25.1 70977988 71041666 - 71897491 71960883 - 74385613 74449288 - 6480464;6907045 16344560;15862967;15489334;14702039;12522145;12477932;11311559;11214970;8125298;8634298;19615732;20237496;19549727;22863883;22990118;22939629;15385968;21963094;23000965;23381138;23455153;12938929;20639865;21139048;21890473;21906983;22145905;22586326;22053931;22190034;22505724;22952844 63893 K7EQ12;K7ES11;Q9H6E6 AB051521;ABBA01028742;ABBA01028743;ABBA01028744;ABBA01028745;ABBA01028746;AC015802;AC090699;AK000926;AK022940;AK024657;AK025999;AK225412;AL832432;AMYH01008643;BC004525;BC007822;BC022237;BC025977;BC036820;BC051868;CH471099;DA092358;NM_022066 AAH04525;AAH22237;AAH25977;AAH36820;AAH51868;BAB14320;BAB14948;BAB15313;BAB21825;CAH10644;EAW89395;EAW89396;EAW89397;EAW89398;EAW89399;NP_071349;Q9C0C9 Hs.16130 1299973;1718405;1734466;1776568;2165270;2219786;7186445 Cda01a06;D17S1431E;D17S785;E2-230K__6373;G17963;RH122977 E2-230K;FLJ12878;KIAA1734 ubiquitin carrier protein O;ubiquitin-conjugating enzyme E2 O;ubiquitin-conjugating enzyme E2 of 230 kDa;ubiquitin-conjugating enzyme E2-230K;ubiquitin-protein ligase O protein-coding ENSG00000175931 29554 10928 VALIDATED 2301121 UBE2V1P2 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2 3 3 3 q26.31 173837455 173838134 - 176918479 176919160 - 175435790 175436470 - 730052 ABBA01058608;AC119744;AMYH01013668;NG_008616 pseudo 32648 INFERRED 2794509 UBE2V1P3 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3 Y Y p11.2 3792557 3794858 - 3732650 3734820 - 12815422;9847074 359798 ABBA01069816;AC012078;NG_002821 1772551 D1S57 pseudo 23983 INFERRED 7204967 UBE2V1P5 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 5 10 q25.3 115876906 115877312 + 100287173 ABBA01062982;AC022023;AMYH01003086;NG_030120 pseudo 44888 INFERRED 7204968 UBE2V1P6 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 6 2 q31.1 169971705 169972184 + 100287279 ABBA01004962;AC007556;AMYH01011242;NG_030150 pseudo 44889 INFERRED 7204951 UBE2V1P9 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 9 X q21.31 89544538 89544848 - 100131981 AL121873;AMYH01022681;NG_030278 1772551 D1S57 pseudo 44894 INFERRED 2798685 UBE2QL1 ubiquitin-conjugating enzyme E2Q family-like 1 5 5 5 p15.31 6476425 6520375 + 6490460 6548029 + 6448736 6496834 + 6480464;6907045 12477932;14702039;8889548 134111 A1L167 AB188494;ABBA01016146;AC093307;AK057805;AK096612;AK308577;AMYH01014879;BC127723;BC150554;BU726418;CH471102;NM_001145161 A1L167;AAI27724;AAI50555;EAX08109;NP_001138633 Hs.126856;Hs.731466 1649863;1695318;1717153;1735508;1754889;1762243;1858409;2118970;2143474;2158032;2184638 A003B33;D5S1575E;D5S1637E;RH121499;RH36019;RH79039;SHGC-141817;SHGC-146107;SHGC-63488;SHGC-63489;STS-AA017236 FLJ25076;FLJ39293 OTTHUMP00000220565;ubiquitin-conjugating enzyme E2Q family-like 1;ubiquitin-conjugating enzyme E2Q-like protein 1 protein-coding 37269 VALIDATED 7204912 UBE2V2P1 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 1 10 p12.31 19340384 19341101 + 100128493 ABBA01034530;AL357520;AL450470;AMYH01002156;NG_022163 2156953;2184323 G26465;SHGC-173 pseudo 44885 INFERRED 7204938 UBE2V2P3 ubiquitin-conjugating enzyme E2 variant 2 pseudgene 3 1 11338671 11339333 - 100421341 ABBA01003045;AL031291;AMYH01000255;NG_026910 pseudo 44891 INFERRED 1321905 UBE2R2 ubiquitin-conjugating enzyme E2R 2 Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008] 9 9 9 p13.3 33749030 33852202 + 33807182 33910401 + 33817182 33920401 + 1580863;6480464;6907045 8125298;15489334;15164053;15146197;14702039;12477932;12037680;10737800;19549727;19851296;20198315;20379614;21900206;21139048;21890473;21906983;22863883 54926 Q712K3 AA397839;ABBA01065035;ABBA01065036;ABBA01065037;ABBA01065038;ABBA01065039;ABBA01065040;ABBA01065041;AJ240087;AK000426;AK225880;AL133827;AL139113;AMYH01019327;AMYH01019328;AMYH01019329;AW966809;BC004862;BC038356;BC047584;BI061548;BI908167;BQ432410;CD515389;CH471071;CN310827;CN427315;CR457233;NM_017811 AAH04862;AAH47584;BAA91156;CAC80336;CAG33514;EAW58478;EAW58479;EAW58480;NP_060281;Q712K3 Hs.740452 1336757;1763901;2130964 D9S1817;SHGC-147568;STS-AA029821 CDC34B;E2-CDC34B;FLJ20419;MGC10481;UBC3B E2-CDC34B;OTTHUMP00000021236;ubiquitin carrier protein R2;ubiquitin-conjugating enzyme E2 R2;ubiquitin-conjugating enzyme E2-CDC34B;ubiquitin-conjugating enzyme UBC3B;ubiquitin-protein ligase R2 APPROVED protein-coding ENSG00000107341 19907 15602 612506 REVIEWED 5131595 UBE2WP1 ubiquitin-conjugating enzyme E2W pseudogene 1 1 p21.3 96884129 96884478 + 619457 ABBA01045486;AC092393;AMYH01000813;NG_028833 UBE2WP pseudo 32198 INFERRED 1343646 UBE2S ubiquitin-conjugating enzyme E2S This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008] 19 19 q13.43 60604462 60611137 - 55912650 55919325 - 1580863;6480464;6907045 18780286;16201836;15489334;15146197;12477932;1379239;8576261;21281817;17643375;19083192;19820702;19822757;20080579;17207965;19549727;21376237;21832049;22939629;12938929;20622874;20639865;21113135;21139048;21890473;21906983;12524449;22069333;21963094;22895574;23000965;23383273;21048196;22053931;22505724;22529100 27338 K7EM75;K7EPJ1;Q16763 AB062397;ABBA01068094;ABBA01068095;AC020922;AMYH01009998;AMYH01009999;BC004236;BC007554;BC065364;BC066948;CA421746;CH471135;CN305224;DQ120718;M91670;NM_014501 AAA58446;AAH04236;AAH07554;AAH65364;AAH66948;ABC40675;ADQ33000;BAB93484;EAW72377;NP_055316;Q16763 Hs.396393 5121346 WI-7148 E2-EPF;E2EPF;EPF5 E2-EPF5;ubiquitin carrier protein S;ubiquitin-conjugating enzyme E2 S;ubiquitin-conjugating enzyme E2-24 kD;ubiquitin-conjugating enzyme E2-24 kDa;ubiquitin-conjugating enzyme E2-EPF5;ubiquitin-protein ligase S APPROVED protein-coding ENSG00000108106 17895 15603 610309 REVIEWED 1606149 UBE2U ubiquitin-conjugating enzyme E2U (putative) 1 1 1 p31.3 62959589 63000068 + 64442078 64482615 + 64669490 64710027 + 6480464;6907045 16710414;15489334;12477932;19690564;19549727 148581 Q5VVX9 ABBA01074564;AL161916;AL445205;AMYH01000678;AMYH01000679;BC029895;CH471059;NM_152489 AAH29895;ABM82238;ABM85422;EAX06552;EAX06553;EAX06554;NP_689702;Q5VVX9 Hs.388746 1698048 RH102555 MGC35130;RP4-636O23.1 OTTHUMP00000010575;OTTHUMP00000010576;ubiquitin carrier protein U;ubiquitin-conjugating enzyme E2 U;ubiquitin-protein ligase U protein-coding ENSG00000177414 28559 14599 PROVISIONAL 1350282 UBE3AP1 ubiquitin protein ligase E3A pseudogene 1 2 2 2 q11.1 92383491 92384027 - 97387519 97388055 + 98021380 98021916 + 9465301 7338 ABBA01001852;AC092683;AC159540;AF010598;AMYH01010764;NG_002381 pseudo 12497 INFERRED 1346140 UBE3AP2 ubiquitin protein ligase E3A pseudogene 2 21 21 21 q21.3 17615309 17618456 - 31354117 31357428 - 32432339 32435486 - 10830953;9465301 7339 ABBA01057280;AF010599;AMYH01012193;AP000245;NG_001210 1789298;1850126 G67875;SHGC-52105 pseudo 12498 INFERRED 1346082 UBE2V1 ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012] 20 20 q13.2 48131068 48165901 - 48697661 48732496 - 5490218;5490215;5685014;6480464;6484113 18535784;20086235;21235323 16129784;9305758;9418904;10089880;17709375;17041755;16893187;15489334;14702039;12477932;11780052;11280764;11076860;11076848;11057907;9771976;9705497;9580084;12481031;16236267;17135271;17207965;16307917;19549727;15276183;15327770;18042044;18570872;19675569;19734906;20501938;21204785;21512569;21512573;21572451;21575904;21694720;21706008;21866272;21911421;22505724;22632162;22939629;15146197;22863883;16344560;20613989;21890473;23000965;12834344;15147900;16215985;16547522;18029035;18678647;21143188 7335 D6RG00;Q9GZW1 ABBA01052772;ABBA01052773;AF049671;AK314754;AL110132;AMYH01011971;AY008273;BC000468;BC005215;BC008944;BT007382;BU540046;BU595183;BU934624;BX647511;BX648147;CA453411;CD103154;CH471077;CN346855;DA087027;DA409547;DA519011;DA573591;DA625165;DA642098;DA696213;DA885410;DA892136;DB448941;NG_029526;NM_001032288;NM_001257393;NM_001257394;NM_001257395;NM_001257396;NM_001257397;NM_001257398;NM_001257399;NM_021988;NM_022442;NM_199144;NR_047553;NR_047554;NR_047555;NR_047556;U39360;U97279;U97280;U97281 AAB72015;AAC02755;AAC02756;AAC02780;AAG24229;AAH00468;AAH08944;AAP36046;ADQ33153;EAW75634;EAW75635;EAW75636;EAW75639;NP_001027459;NP_001244322;NP_001244323;NP_001244324;NP_001244325;NP_001244326;NP_001244327;NP_001244328;NP_068823;NP_071887;NP_954595;Q13404 Hs.420529;Hs.744839 1773904;1791702;1791704;2156953;2184323;5024411;5106423;5117202;5126825;5126827 D2S1964;G26465;GDB:451742;HSC0RC102;PMC121525P1;PMC121525P2;PMC121525P3;PMC121525P4;RH11748;SHGC-173 CIR1;CROC-1;CROC1;UBE2V;UEV-1;UEV1;UEV1A DNA-binding protein;OTTHUMP00000031795;OTTHUMP00000031796;OTTHUMP00000031801;OTTHUMP00000031805;OTTHUMP00000039980;TRAF6-regulated IKK activator 1 beta Uev1A;ubiquitin-conjugating enzyme E2 variant 1 APPROVED protein-coding ENSG00000244687 12494 602995 REVIEWED 1606013 UBE2T ubiquitin-conjugating enzyme E2T (putative) The covalent conjugation of ubiquitin to proteins regulates diverse cellular pathways and proteins. Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin-conjugating enzyme (E2), such as UBE2T, and a ubiquitin ligase (E3) (Machida et al., 2006 [PubMed 16916645]).[supplied by OMIM, Mar 2008] 1 1 1 q32.1 175424694 175435001 - 200567408 200577707 - 202300785 202311094 - 6480464 22939629;18029348;19111657;16916645;16710414;15489334;14702039;12477932;11042152;10931946;18667844;19549727;19690564;19589784;19887602;17938197;16196087;18781797;20639865;12938929;19471022;21139048;21693764;21890473;21906983;21722982;21775430;17203973;22053931;22287633;22505724 29089 Q9NPD8 AB032931;ABBA01027504;AF160215;AF161499;AK000504;AL356953;AMYH01001648;AY542309;BC004152;BC019284;BG776416;CH471067;CS063588;NM_014176 AAF29114;AAF67016;AAH04152;AAH19284;AAT08178;ABM83655;ABM86901;BAA91211;BAA93711;CAI84529;EAW91411;EAW91412;EAW91413;EAW91414;EAW91415;NP_054895;Q9NPD8 Hs.5199 1663552;1669790 SHGC-32766;WI-17936 HSPC150;PIG50 HSPC150 protein similar to ubiquitin-conjugating enzyme;OTTHUMP00000038808;cell proliferation-inducing gene 50 protein;ubiquitin carrier protein T;ubiquitin conjugating enzyme;ubiquitin-conjugating enzyme E2 T;ubiquitin-protein ligase T APPROVED protein-coding ENSG00000077152 25009 13704 610538 VALIDATED 1318163 UBE2V2 ubiquitin-conjugating enzyme E2 variant 2 Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008] 8 8 q11.21 49083548 49137007 + 48920995 48974454 + 1580863;6480464 11473255;16786304;17349954;9418904;10089880;16129784;18284681;18178771;17964296;16169070;15952783;15749714;15725630;15489334;14702039;14695475;14562038;12665801;12477932;11473244;9705497;9199207;18316726;19549727;20029029;12039045;17218787;12569095;12834344;12847084;14517261;15147900;16112642;16122702;16215985;16518696;17108083;18678647;20047764;21143188;22505724;22589545;22679021;22939629;21774837;21114314;21139048;21890473;21906983 7336 A0M8W4;E5RIF1;G3V113;H0YBP9;H0YBX6;Q15819 ABBA01041648;ABBA01041649;ABBA01041650;AC021236;AF049140;AK094617;AK313447;AMYH01018704;BC007051;BC016332;BC016710;BC028673;BC062418;BT006744;CH471068;CR407628;DQ003720;NM_003350;U62136;X98091 AAB04758;AAC05381;AAH07051;AAH16332;AAH16710;AAH28673;AAH62418;AAP35390;AAY16979;ABM83433;ABM86647;ABW03321;ABW03463;ABW03497;BAG36236;CAA66717;CAG28556;EAW86687;EAW86688;EAW86689;EAW86690;NP_003341;Q15819 Hs.491695 1710896;1750863;1775618;2157355;2186742;5015961;5022322 D11S2560;D15S1477;RH48535;RH66144;SHGC-104623;SHGC-5776;SHGC-84240 DDVIT1;DDVit-1;EDAF-1;EDPF-1;EDPF1;MMS2;UEV-2;UEV2 1 alpha,25-dihydroxyvitamin D3-inducible;DDVit 1;MMS2 homolog;OTTHUMP00000226192;OTTHUMP00000226193;OTTHUMP00000226194;OTTHUMP00000226195;OTTHUMP00000226196;OTTHUMP00000226197;enterocyte differentiation promoting factor;enterocyte differentiation-associated factor 1;enterocyte differentiation-associated factor EDAF-1;enterocyte differentiation-promoting factor 1;methyl methanesulfonate sensitive 2, S. cerevisiae, homolog of;ubiquitin-conjugating enzyme E2 variant 2;vitamin D3-inducible protein APPROVED protein-coding 12495 04300 603001 REVIEWED 1605362 UBE2W ubiquitin-conjugating enzyme E2W (putative) This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] 8 8 8 q21.11 70700536 70788851 - 74865394 74953664 - 74692332 74791145 - 6480464;6907045 16368532;15489334;14702039;12477932;8125298;16169070;19690564;19549727;21229326;21113135;19111657;17873885;19712108;21518764;21900206;21139048;16344560;19322201;19851334;21855799;22157707;21965653 55284 C9JJH0;E5RG25;H0YB73;Q96B02;Q96FI0 ABBA01041972;ABBA01041973;ABBA01041974;AC022826;AC022868;AK001873;AK021735;AK024050;AK123531;AK225554;AK295792;AMYH01018796;AMYH01018797;AMYH01018798;AY948289;BC010900;BC016326;BU155172;BX538145;BX648427;CH471068;CR457275;DA352184;NM_001001481;NM_001271015;NM_018299;NR_073119;NR_073120;NR_073121 AAH10900;AAH16326;AAY24555;ABZ92026;BAA91954;BAB13883;BAB14800;BAG58613;CAG33556;EAW87009;EAW87010;EAW87011;EAW87012;NP_001001481;NP_001257944;NP_060769;Q96B02 Hs.128841 1673486;1685608;1693552;1730355;1748681;1749041;2160660;5016478;5494161;7185578 D8S288E;GDB:434012;RH45649;RH80693;SHGC-110342;SHGC-110674;SHGC-58464;STS-AA025113;fb73f06.x1 FLJ11011;UBC-16;UBC16;hUBC-16 OTTHUMP00000226882;OTTHUMP00000226883;probable ubiquitin-conjugating enzyme E2 W;ubiquitin carrier protein W;ubiquitin-conjugating enzyme 16;ubiquitin-conjugating enzyme 2W;ubiquitin-conjugating enzyme E2 W;ubiquitin-protein ligase W APPROVED protein-coding ENSG00000104343 25616 07724 614277 REVIEWED 1315581 UBE3D ubiquitin protein ligase E3D 6 6 6 q14.1 84035429 84208843 - 83658905 83832264 - 83602186 83775545 - 6480464 15749827;12477932;21139048 90025 D6RD24;D6RHY9;H0Y359;J3KMY4;Q4G0X5;Q7Z6J8 AB126062;ABBA01040447;ABBA01040448;ABBA01040449;AF026526;AK298205;AL034377;AL137544;AL139333;AL357121;AL450483;AMYH01016467;AMYH01016468;BC036049;BC053645;BC057845;BC071763;BC101512;BC101538;BC143617;CH471051;NM_198920 AAH36049;AAH53645;AAH57845;AAH71763;AAI01513;AAI01539;BAD01604;BAG60475;CAB70802;EAW48677;EAW48678;EAW48679;EAW48680;EAW48681;NP_944602;Q7Z6J8 Hs.148609 1684294;1785960;1854455 D6S1458;RH98725;SHGC-146020 C6orf157;DKFZp434A1520;H10BH;MGC126561;MGC126587;UBE2CBP;YJR141W E3 ubiquitin-protein ligase E3D;OTTHUMP00000016787;OTTHUMP00000016789;OTTHUMP00000220800;OTTHUMP00000220801;UBCH10 binding protein with a hect-like domain;ubcH10-binding protein with a HECT-like domain;ubiquitin-conjugating enzyme E2C binding protein;ubiquitin-conjugating enzyme E2C-binding protein APPROVED protein-coding ENSG00000118420 21381 12861 612495 PROVISIONAL 1314934 UBE3A ubiquitin protein ligase E3A This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] 15 15 q11.2 23133489 23235221 - 25582396 25684175 - 1358469;1358255;1580863;1358256;6480464;6907045;7240710 8988171;10558980;11748306 16493710;8221889;19276448;19233847;19213023;19204938;19194825;19086053;19058789;18612801;18487518;18361419;18298802;18256157;18201976;18193166;18186074;17942561;17765640;17657785;17131388;17108031;17085449;16951183;16905559;16713569;15175323;9182527;12890688;9153201;17962381;16708385;16546135;16482544;16314411;15862967;15731267;15655249;15615769;15231748;15054837;14981718;14702039;12725589;12620801;12609982;12481031;12477932;12207887;12095913;12075004;11460706;11170455;11149944;10983987;10508479;10449731;10066826;9990509;9891052;9852095;9792887;9688277;9585605;9465301;9369221;9288088;9288087;9143503;8576257;8380895;20930542;20157568;19325566;19557195;19700180;19723394;20034088;20039703;20167600;20351251;11431533;16344560;20589759;20829392;21044367;20635355;20301323;10373495;21362313;21493713;21228227;20609483;20956852;21633703;21033666;21765936;21348951;20826237;11486026;15001357;15331633;17433363;17603074;19013454;19899154;21832049;22053931;22341959;22350887;22350919;22496338;22505724;22589186;22645313;22689861;22787151;22797925;22865929;22939629;23040663;8090726;9575161;19591933;19563863;22065487;23393263;16254014;22863883;21530567;16051665;18775313;19240029;21768723;20972266;21139048;21890473;21906983;21947926;21963094;21900206;21987572;22118674;11027293;17110338;21988832;23000965;23439649;19364824;20639865;21029865;17166906;23671107;21553290;23598402;23251661;23283345;22560727;23256887 7337 Q9BUI6;Q9H2G0;Q9UEP8 AB194232;ABBA01048691;AC100774;AC124997;AF002224;AF002225;AF016708;AF273050;AI378869;AJ001107;AJ001108;AJ001109;AJ001110;AJ001111;AJ001112;AJ001113;AK056239;AK130491;AK291405;AK292514;AL049363;AL831842;AMYH01006484;BC002582;BC009271;BE349076;CH471151;DA415876;L07557;NG_002690;NG_009268;NM_000462;NM_130838;NM_130839;U84404;X98021;X98031;X98032;X98033;X98037 AAA35542;AAB49301;AAB69154;AAG34910;AAH02582;AAH09271;ADZ16032;BAD69553;BAD69554;BAF84094;BAF85203;CAA04534;CAA04535;CAA04536;CAA04537;CAA04538;CAA04539;CAA04540;CAA66653;CAA66654;CAA66655;CAA66656;EAW57642;EAW57643;EAW57644;EAW57645;NP_000453;NP_570853;NP_570854;Q05086 Hs.598862 1341649;1644179;1680655;1697786;1729594;1736488;1736494;1767677;1767679;1789298;1798304;1850126;2164323;2176155;2183559;5022580;5109613;5123020;5492176;5492178;7187421 D15S10;D15S122;D15S698E;D15S701E;D15S837;D21S1716E;D21S1734E;G67875;RH102417;RH11332;RH17601;RH45096;RH78150;RH79621;SHGC-52105;UBE3A_1455;Ube3a;WI-11918;WI-13724 ANCR;AS;E6-AP;EPVE6AP;FLJ26981;HPVE6A CTCL tumor antigen se37-2;E6AP ubiquitin-protein ligase;OTTHUMP00000246395;human papilloma virus E6-associated protein;human papillomavirus E6-associated protein;oncogenic protein-associated protein E6-AP;renal carcinoma antigen NY-REN-54;ubiquitin-protein ligase E3A APPROVED protein-coding ENSG00000114062 12496 03375 105830;601623 REVIEWED 5135107 UBFD1P1 ubiquitin family domain containing 1 pseudogene 1 3 3 3 q11.2 96544619 96545499 + 99635604 99636369 + 98152808 98153688 + 100130484 ABBA01026929;AC108730;AMYH01013351;NG_022258 pseudo 42389 INFERRED 1606510 UBE2Z ubiquitin-conjugating enzyme E2Z This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012] 17 17 17 q21.32 43440014 43460620 + 44340766 44361421 + 46985731 47006422 + 6480464;6907045 20975683;22427669;18029348;17597759;17160626;16344560;16189514;15761153;15489334;14702039;12477932;16169070;19549727;19690564;21378990;22939629;21816346;21139048;21890473;21906983;22321011 65264 D6RB11;H0Y9X8;I3L286;I3L3V3;I3L4C5;Q9H832 AA843379;AA845421;AB025426;ABBA01041182;ABBA01041183;AC091133;AK023917;AK024030;AK091644;AK122770;AK130303;AK296865;AL713782;AMYH01008459;BC015169;BC015890;CH471109;CR457322;DA928380;EF623992;NM_023079 AAH15169;AAH15890;ABR25252;BAB14724;BAB14789;BAB87810;BAG59428;CAD28542;CAG33603;EAW94701;EAW94702;EAW94703;EAW94704;NP_075567;Q9H832 Hs.514297 1656463;1660019;2152192;5093294 A009L01;G32634;RH17824;RH48263 FLJ13855;HOYS7;USE1 OTTHUMP00000197726;UBA6-specific enzyme E2;uba6-specific E2 conjugating enzyme 1;ubiquitin carrier protein Z;ubiquitin-conjugating enzyme E2 Z;ubiquitin-protein ligase Z APPROVED protein-coding ENSG00000159202 25847 08589 611362 VALIDATED 1343282 UBL2 ubiquitin-like 2 9671742 8457 12503 1350438 UBE3B ubiquitin protein ligase E3B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012] 12 12 12 q24.11 109539814 109598873 + 108399822 108458890 + 109915428 109974510 + 1580863;6480464;6907045 17672918;15489334;14702039;12837265;12689446;12477932;11483580;10962193;20864672;20379614;16751776;18781797;16344560;21139048;21906983;23200864;21565611 89910 B7Z6V9;F5H2J2;F5H5T5;F5H6D6;F5H734;Q7Z3V4 ABBA01005069;AC007570;AF130072;AF251046;AK022019;AK056015;AK127227;AK304678;AK307385;AL096740;AMYH01004737;BC013182;BC020348;BC032301;BC040155;BC051266;BC068221;BC108705;BC141880;BC144684;BC150637;BQ889238;BX537403;CH471054;DA771082;DQ570810;DR760197;NM_001270449;NM_001270450;NM_001270451;NM_130466;NM_183415 AAH32301;AAH51266;AAH68221;AAI08706;AAI41881;AAI50638;AAK28419;BAG65450;CAD97645;CAH56410;EAW97865;EAW97866;EAW97867;EAW97868;NP_001257378;NP_001257379;NP_001257380;NP_569733;NP_904324;Q7Z3V4 Hs.374067 1671568;1673397;1681018;2134805;2187501;2190957;5024064 G12108;MARC_12083-12084:1008774253:1;RH46180;RH70162;RH80161;WI-11698;WI-20952 BPIDS;DKFZp586K2123;DKFZp686A1051;FLJ45294;MGC131858;MGC78388 OTTHUMP00000240552;OTTHUMP00000240554;OTTHUMP00000240555;OTTHUMP00000240558;ubiquitin-protein ligase E3B APPROVED protein-coding ENSG00000151148 13478 06993 608047;615057 REVIEWED 1348358 UBE3C ubiquitin protein ligase E3C 7 7 7 q36.3 151358691 151489117 + 156624425 156754823 + 156931655 157062066 + 1580863;6480464;6907045 11278995;12692129;16344560;15489334;12853948;12690205;12477932;9575161;7584028;7584026;19913121;20628086;19197348;19846067;20934631;21167755;21832049;22863883;22939629;22990118;16196087;17314511;16601690;22145905;19193609;19322201;20972266;21139048;21881582;21890473;21906983;22496338 9690 H7C0Y1;Q15386 AA596042;AACC02000068;ABBA01032363;ABBA01032364;ABBA01032365;ABBA01032366;AC004898;AC004975;AK127280;AK295138;AMYH01018191;BC014029;BC026241;CD366848;CH236954;CH471149;D13635;DB085748;DB454915;NM_014671 AAD51453;AAH14029;AAH26241;BAA02799;BAG58161;EAL23922;EAX04567;EAX04568;EAX04569;NP_055486;Q15386 Hs.118351 1674777;1684220;1685906;1689332;1693532;1786324;1786326;1789496;1789508;2107743;2126194;2138405;2145619;2161096;2178710;5015961;5037552 D15S1477;D7S2380;D7S2872;D7S3165;D7S3173;D8S2279;RH25250;RH47207;RH81080;RH92834;RH98878;SHGC-155117;SHGC-155118;SHGC-58169;SHGC-58446;STS-D13635;UBE3C__5178 HECTH2;KIAA0010;KIAA10 OTTHUMP00000211811;ubiquitin-protein isopeptide ligase (E3);ubiquitin-protein ligase E3C protein-coding ENSG00000009335 16803 15604 614454 VALIDATED 1351066 UBE4A ubiquitination factor E4A This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011] 11 11 11 q23.3 115388170 115427789 + 117735512 117775136 + 118230296 118269926 + 1580863;6480464;6907045 17353931;10089879;18069675;17553343;15611659;15489334;15019985;12665801;12477932;11802788;8590280;7829101;19690564;15189447;16344560;21890473;21139048;21906983;21903422;19322201;22505724 9354 B7Z7P0;Q14139 ABBA01039711;ABBA01039712;AF087968;AK296369;AK302328;AK307737;AL713515;AMYH01004068;AP001267;AP001582;AW021567;AW290969;BC010938;BC030973;BC039240;BC052643;BC062695;BC111417;BC112367;BU167020;CH471065;D50916;DB068702;EF445042;NM_001204077;NM_004788 AAH30973;AAH52643;AAH62695;AAI11418;AAI12368;ACA06094;BAA09475;BAG59044;BAH13676;EAW67371;EAW67372;NP_001191006;NP_004779;Q14139 Hs.602967;Hs.75275 1674618;1676814;1686348;1687053;1717985;1725369;1731825;1733316;1737625;1756837;1792620;2119098;2158583;5113992 D11S1374;D11S1933;D11S3222;NIB1965;PMC155158P2;RH119002;RH122609;RH18212;RH25349;RH92387;SHGC-143993;SHGC-87656;STS-AA019500;STS-Z41133 E4;KIAA0126;MGC133315;UBOX2;UFD2 OTTHUMP00000237916;OTTHUMP00000237917;homologous to yeast UFD2;ubiquitin conjugation factor E4 A;ubiquitination factor E4A (UFD2 homolog, yeast);ubiquitination factor E4A (homologous to yeast UFD2) APPROVED protein-coding ENSG00000110344 12499 06793 603753 REVIEWED 1606788 UBFD1 ubiquitin family domain containing 1 16 16 16 p12 22347036 22363883 + 23476363 23493211 + 23568862 23585710 + 6480464 14702039;10493829;19285159;12477932;22863883;22939629;21139048;21890473;21906983;20639865;21987572 56061 H3BRL3;H3BUM8;O14562 ABBA01017066;ABBA01017067;AC002400;AC008870;AK025656;AK092696;AK096189;AK124139;AMYH01007382;BC001413;BC007880;BC011830;CH471145;NM_019116 AAC05812;BAG52599;BAG54014;EAW55817;EAW55818;EAW55819;NP_061989;O14562 Hs.3459 1685996;1722563;1728977;2107747;2138028 G60210;RH65168;RH68198;UBPH__5180;UniSTS:142701 FLJ38870;FLJ42145;UBPH OTTHUMP00000159076;ubiquitin domain-containing protein UBFD1;ubiquitin-binding protein homolog protein-coding ENSG00000103353 30565 15606 VALIDATED 7175228 UBL5P1 ubiquitin-like 5 pseudogene 1 5 p13.3 29600773 29600962 + 100130803 ABBA01066696;AC114323;AMYH01014991;CH471118;NG_027666 EAX10758 pseudo 44639 INFERRED 7175178 UBL5P2 ubiquitin-like 5 pseudogene 2 17 q11.2 30554796 30555205 - 100287215 ABBA01000709;AC026620;AMYH01008333;NG_027668 1679007 RH93321 pseudo 44640 INFERRED 7175179 UBL5P3 ubiquitin-like 5 pseudogene 3 3 p14.2 63188797 63189221 - 100129031 ABBA01024325;AC099545;AMYH01013243;NG_027667 pseudo 44641 INFERRED 1344940 UBL6 ubiquitin-like 6 170557 AC005220 15953 1312355 UBE4B ubiquitination factor E4B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 p36.3 10015603 10163884 + 10093041 10241297 + 1580863;6480464;6907045 18234089;11802788;18418053;17081983;16870146;16710414;16344560;15489334;15466860;15302935;14702039;12700669;12504083;12477932;10980605;10089879;9734811;9653645;20676096;16170377;15189447;19805293;20696396;14749733;21282470;21317885;19889839;22045814;22863883;22939629;20017557;17955473;18022694;18775313;22174917;19322201;20414249;21987572;21139048;21890473;19175675;21906983;21963094;22124266;18654987;22990745;23000965;22505724 10277 A8K8S9;B1AQ61;K7EP75;K7ERA7;O95155 AB014584;AB028839;ABBA01035584;ABBA01035585;ABBA01035586;ABBA01035587;ABBA01035588;AF043117;AF091093;AF331520;AK023654;AK292444;AK304484;AL096841;AL590639;AMYH01000242;BC047890;BC093696;BC143458;BC143460;BQ001243;CH471130;DA476510;JF289274;NM_001105562;NM_006048 AAC72962;AAD02233;AAH93696;AAK69622;AEK06331;BAA31659;BAB40446;BAF85133;BAG65294;EAW71639;EAW71640;NP_001099032;NP_006039;O95155 Hs.593974 1776806;1854392;1854394;2110789;2155241;2168221;2184955;5015619;5021872;5022200;5022578;5022651;5037552 A006H31;AL009691;AL009864;D11S2921;D11S3114;D1S1423;D8S2279;G20815;L18426;SHGC-30343;SHGC-74188;UBE4B_9080;sY3084 E4;HDNB1;KIAA0684;UBOX3;UFD2;UFD2A OTTHUMP00000001726;OTTHUMP00000001727;UFD2A-III/UBE4B-III splice isoform;homologous to yeast UFD2;homozygously deleted in neuroblastoma 1;homozygously deleted in neuroblastoma-1;ubiquitin conjugation factor E4 B;ubiquitin fusion degradation protein 2;ubiquitin-fusion degradation protein 2;ubiquitination factor E4B (UFD2 homolog, yeast);ubiquitination factor E4B (homologous to yeast UFD2) APPROVED protein-coding ENSG00000130939 12500 11659 613565 REVIEWED 1603400 UBIAD1 UbiA prenyltransferase domain containing 1 This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008] 1 1 p36.22 11255866 11268929 + 11333255 11348491 + 6480464;7240710 11314041;19429578;19394700;18176953;17962451;17960116;16710414;16303743;23374346;15782423;15489334;12497587;12477932;8894705;8125298;17668063;19649163;20953171;20489584;20505825;21740188;22065921;21890473;23533172;23169578 29914 Q9Y5Z9;R4GN21;R4GNE3 AA505091;ABBA01003045;AF117064;AK074890;AK222808;AL031291;AL049653;AMYH01000255;BC004468;BT006832;BX507524;CH471130;CQ784038;NG_009443;NM_013319 AAD27581;AAH04468;AAP35478;BAD96528;BAG52025;CAF86981;EAW71686;NP_037451;Q9Y5Z9 Hs.522933 1298152;1336018;1336309;1338668;2109935;2163939;2185768 D1S214;D1S228;D1S2663;D1S489;SHGC-74208;SHGC-74218;TERE1_9605 RP4-796F18.1;SCCD;TERE1 OTTHUMP00000002069;transitional epithelia response protein;transitional epithelial response protein 1;ubiA prenyltransferase domain-containing protein 1 APPROVED protein-coding ENSG00000120942 30791 15487 121800;611632 REVIEWED 1602973 UBL4B ubiquitin-like 4B 1 1 1 p13.3 108902036 108903543 + 110456585 110458092 + 110655062 110656569 + 6480464 16872915;15489334;14702039;12477932;17207965;22589738 164153 Q8N7F7 AA608970;ABBA01068386;AK098556;AL160006;AMYH01000941;BC058929;CH471122;CS072275;NM_203412 AAH58929;ADQ32549;BAC05331;CAI93413;EAW56431;NP_981957;Q8N7F7 Hs.374027 FLJ25690 OTTHUMP00000234691;ubiquitin-like protein 4B protein-coding ENSG00000186150 32309 17314 611127 VALIDATED 1313456 UBL3 ubiquitin-like 3 13 13 13 q12-q13 11408157 11494450 - 29236542 29322160 - 30338545 30424820 - 1580863;6480464 11256614;16831869;16381901;16344560;15489336;15489334;15057823;14702039;12477932;11230166;11076863;10375635;20460270;20379614;21832049;21139048;19322201 5412 O95164 ABBA01035708;AF044221;AK056580;AK307361;AK309253;AK311846;AL080177;AL138684;AL139188;AL158193;AMYH01005001;BC044582;BC059385;BM453277;CH471075;CR533458;DA246318;DA400786;DB495511;NM_007106 AAD02323;AAH44582;AAH59385;BAG34788;BAG51754;CAB45762;CAG38489;CAL38126;CAL38242;EAX08446;EAX08447;EAX08448;NP_009037;O95164 Hs.145575 1657119;1685455;1739199;1739629;1855346;2136193;2138240;2174159 A008Y32;D13S1133;D13S1214E;D13S830E;RH80533;SHGC-2665;STS-R68992;WI-16690 DKFZp434K151;FLJ32018;HCG-1;PNSC1 MUB;OTTHUMP00000018193;hsMUB;membrane-anchored ubiquitin-fold protein;protein HCG-1;ubiquitin-like protein 3 protein-coding ENSG00000122042 12504 05275 604711 VALIDATED 1348580 UBL4A ubiquitin-like 4A X X X q28 153873107 153875983 - 153365250 153368126 - 153712056 153714932 - 1580863;6480464 2829204;18029348;17081983;16916647;16872915;15489334;12477932;8733135;6533418;20676083;22912744;21963094;23000965;23142665;23246001;23349634;23533635;17643375;19615732;17207965;21832049;22939629;16196087;17558393;21987572;12938929;21139048;21890473;21636303;21853274;22053931;22190034;22190037 8266 F8WB70;F8WCT8;P11441;Q5HY81 ABBA01045274;AC244090;AK000405;AK293227;AMYH01023318;BC020254;BC043346;BC053589;BX664739;CH471172;J03589;L44140;M35604;NM_014235 AAA36790;AAA92650;AAH43346;AAH53589;ADQ33007;BAG56766;EAW72700;NP_055050;P11441 Hs.76480 1802242;1803824;1816544;1817986;1824714;2037484;2037490;2037492;2037494;2037496;2037498;2037500;2037502;2037504;2037506;2037508;2037510;2037512;2037514;2037516;2037518;2037520;2037522;2037524;2037526;2037528;2037530;2037532;2037534;2102592;2102594;2110013;2135386;2144485 ECD02004;ECD02822;ECD09314;ECD10048;ECD13455;REN89753;REN89756;REN89757;REN89758;REN89759;REN89760;REN89761;REN89762;REN89763;REN89764;REN89765;REN89766;REN89767;REN89768;REN89769;REN89770;REN89771;REN89772;REN89773;REN89774;REN89775;REN89776;REN89777;REN89778;STS-J03589;UBL4_8788;WI-12102;stSG604086;stSG604087 DX254E;DXS254E;G6PD;GDX;GET5;MDY2;TMA24;UBL4 OTTHUMP00000015407;OTTHUMP00000015408;ubiquitin-like 4;ubiquitin-like protein 4A;ubiquitin-like protein GDX protein-coding ENSG00000102178 12505 02417 312070 PROVISIONAL 7244536 UBL7-AS1 UBL7 antisense RNA 1 (head to head) 12477932;16344560 440288 ABBA01060488;ABBA01060489;AC012435;AC100835;AF085896;AMYH01006792;AW081069;BC014373;BC121819;DB092848;NR_038448;NR_038449 Hs.707910 2157672 RH68644 miscrna ENSG00000247240 48614 VALIDATED 1323115 UBN1 ubinuclein 1 16 16 16 p13.3 5106685 5141135 + 4837913 4872364 + 4897912 4932363 + 1580863;6480464 10725330;19029251;17081983;16344560;15302935;15146197;14718166;14702039;22318606;18823282;21084479;22939629;19389623;21807893;22401310;22195966;22245583 29855 K7EJT1;K7EQR1;K7ER78;K7ESM4;Q9NPG3 AA742357;ABBA01026788;ABBA01026789;AC020663;AC027687;AF108459;AF108460;AF108461;AK022652;AK056282;AK300131;AMYH01007108;AU120544;AW385352;BC013750;BG822152;BQ009566;CH471112;CN428658;NM_001079514;NM_016936;U19346 AAA64188;AAF31755;AAF31756;AAF34869;AAI56177;AAI57078;BAH13219;EAW85249;EAW85250;NP_001072982;NP_058632;Q9NPG3 Hs.440219 1665412;1679844;1689877;1690614;1738859;1847348;2107745;2154124 D16S2903;D16S2965;D16S3214;RH15620;RH65233;RH65400;RH92549;UBN1__5179 VT;VT4 HIRA-binding protein;OTTHUMP00000159925;OTTHUMP00000159926;ubinuclein-1;ubiquitously expressed nuclear protein protein-coding ENSG00000118900 12506 11660 609771 VALIDATED 6767192 UBOX5-AS1 UBOX5 antisense RNA 1 20 3087557 3131513 + 14702039 100134015 ABBA01053811;ABBA01053812;AK097516;AL121891;AMYH01011672;AMYH01011673;NR_038395 Hs.129448 1852837;2115829;2185740 AFMa049yd1;RH15911;Z94563 APPROVED miscrna ENSG00000235958 44111 VALIDATED 1351956 UBL5 ubiquitin-like 5 This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] 19 19 19 p13.3 9833993 9836222 + 9799568 9801797 + 9938556 9940797 + 1580863;6480464 11161819;22939629;19189687;19058789;17036923;15620657;15489334;15342556;15331561;14702039;12824502;12705895;12477932;21614000;18191906;11752456;21139048;21890473;21906983;22365833;22623428;23000965;23400010;22505724 59286 K7EQ43;Q9BZL1 ABBA01029962;AC008752;AF313915;AK128885;AK309258;AK311889;AMYH01009463;AV682189;BC007053;BC110839;BP213482;BT007355;CA418471;CH471106;NM_001048241;NM_024292 AAH07053;AAI10840;AAK14178;AAP36019;BAG34830;EAW84054;EAW84055;EAW84056;NP_001041706;NP_077268;Q9BZL1 Hs.534477 1679007 RH93321 FLJ46917;HUB1;MGC131795 beacon;ubiquitin-like protein 5 APPROVED protein-coding ENSG00000198258 13736 06028 606849 VALIDATED 1345154 UBQLN1P1 ubiquilin 1 pseudogene 1 6 6 p22.1 31924566 31930080 - 30326371 30331888 - 387117 AB014085;ABBA01038041;AL662795;AL662831;AL773535;AMYH01016204;BX294158;BX927214;CR759281;CR759890;CR759928;NG_011407 5018896 C3_2_15 UBQLN1P APPROVED pseudo 21633 INFERRED 1602843 UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 15 15 15 q24.1 51685546 51700840 - 72525371 72540582 - 74738318 74753529 - 6480464 14667819;17081983;16731964;16189514;15489334;12644319;12477932;19285159;17207965;22863883;22939629;21139048;21890473;21906983;22589738;22505724 84993 H3BSE0;H3BSQ2;H3BUV9;H3BV23;Q96S82 ABBA01060488;AC012435;AMYH01006792;AY037166;BC007913;BC030055;BC033919;BI551787;BI552240;CH471136;NM_032907;NM_201265 AAH07913;AAH30055;AAH33919;AAK67643;ADQ32712;EAW99331;EAW99332;EAW99333;EAW99334;EAW99335;EAW99336;EAW99337;EAW99338;EAW99339;NP_116296;NP_957717;Q96S82 Hs.334713 2174869;5120966 G35280;UniSTS:62995 BMSC-UbP;MGC14421;TCBA1 OTTHUMP00000176873;OTTHUMP00000176874;bone marrow stromal cell ubiquitin-like protein;bone marrow stromal cell-derived ubiquitin-like;ubiquitin-like protein 7;ubiquitin-like protein SB132 protein-coding ENSG00000138629 28221 16556 609748 VALIDATED 2302451 UBN2 ubinuclein 2 7 7 7 q34 133654387 133731150 + 138566991 138643522 + 138916231 138992982 + 6480464 19029251;12690205;12477932;8889548;18029348;19471022;21139048;21693764 254048 C9J6Y5;H7C4P8;Q6ZU65 AACC02000025;AB107352;ABBA01001186;ABBA01001187;AC009220;AI239540;AI803206;AK098644;AK125956;AMYH01017976;BC037413;BC045656;BC065034;BC108249;BM673408;BX640752;CH236950;NM_173569 AAH65034;AAI08250;BAC05362;BAC67657;BAC86361;EAL24038;NP_775840;Q6ZU65 Hs.153458;Hs.511486 1337513;1671627;1856374;1857318;1857691;2158537;2158704;5015961;5016478;5020948;5021872;5037552;7186826 D15S1477;D7S2355;D7S2468;D8S2279;G35510;GDB:434012;RH11912;RH16552;RH46101;SHGC-33397;WI-15491;sY3084 FLJ25778 OTTHUMP00000212305;ubinuclein-2 protein-coding ENSG00000157741 21931 613841 VALIDATED 1605293 UBLCP1 ubiquitin-like domain containing CTD phosphatase 1 5 5 5 q33.3 154720940 154743899 + 158622876 158645617 + 158690089 158713048 + 6480464 16344560;16189514;15883030;15489334;14702039;12477932;8889548;22939629;21949367;18029348;22318606;21139048;21890473;21906983 134510 Q8WVY7 ABBA01044240;ABBA01044241;AC011418;AK057996;AMYH01015756;AY444562;BC013425;BM676716;BM677370;CH471062;DA930581;NM_145049 AAH13425;AAS68538;BAB71628;EAW61577;EAW61578;NP_659486;Q8WVY7 Hs.591733 1677106;1686020;2110555;2174525 MGC10067__7655;RH36361;RH41101;RH93697 CPUB1;FLJ25267;MGC10067 CTD phosphatase-like with ubiquitin domain 1;CTD-like phosphatase domain-containing protein;OTTHUMP00000160818;nuclear proteasome inhibitor UBLCP1;ubiquitin-like domain-containing CTD phosphatase 1 protein-coding ENSG00000164332 28110 08318 609867 VALIDATED 1344129 UBQLN4P1 ubiquilin 4 pseudogene 1 3 3 q24 150184557 150188299 - 148701962 148705477 - 285329 ABBA01058949;AC021059;AMYH01013568;NG_005662 1656103;1680817 RH12747;RH41451 C3orf12;UBQLN4P APPROVED pseudo 31133 INFERRED 4107116 UBQLN4P2 ubiquilin 4 pseudogene 2 2 2 2 q23.3 147341807 147349719 + 153435500 153443423 + 153733325 153735045 + 100131393 ABBA01004797;AC009969;AMYH01011181;NG_028784 pseudo 38662 INFERRED 1605087 UBOX5 U-box domain containing 5 This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] 20 20 20 p13 3150201 3202498 - 3036219 3088540 - 3088219 3140556 - 6480464;6907045 16189514;15489334;14702039;12477932;11780052;11274149;10431818;10048485;8125298;15189447;19549727;23105109;19953087;21906983;16344560;20979629;22493164 22888 A2A2Q6;O94941 AB020667;ABBA01053811;ABBA01053812;AK022444;AK222570;AK222876;AL121891;AMYH01011672;AMYH01011673;BC000515;BC046122;BC064544;BM992259;BX475562;CH471133;CR457089;DA101925;NM_001267584;NM_014948;NM_199415 AAH00515;AAH46122;ABM82941;ABM86131;BAA74883;BAD96290;BAD96596;BAG51073;CAG33370;EAX10549;EAX10550;EAX10551;NP_001254513;NP_055763;NP_955447;O94941 Hs.654646 1760819;1776427;2108625;2114020;2115829;2128851;2185740;5015619;5015861;5015961;5037552;5109281;7185938 AB062957;AFMa049yd1;D10S16;D11S3114;D15S1477;D1S1425;D20S1109;D20S1116;D8S2279;RH15911;SHGC-144452;UBCE7IP5_9280 KIAA0860;RNF37;UBCE7IP5;UIP5 OTTHUMP00000030085;OTTHUMP00000030086;RING finger protein 37;U-box domain-containing protein 5;ubiquitin conjugating enzyme 7 interacting protein 5;ubiquitin-conjugating enzyme 7-interacting protein 5 APPROVED protein-coding ENSG00000185019 17777 15605 REVIEWED 1345367 UBP1 upstream binding protein 1 (LBP-1a) 3 3 3 p22.3 33373357 33425407 - 33404835 33456874 - 33429828 33481897 - 1580863;6480464 8114710;18004979;16344560;15489334;15471945;14702039;12477932;10644752;7836461;2006421;15207707;19662162;19751393;20211142;19322201;19505873;22939629;21956701;19471022 7342 A8KAN5;C9JWL3;F8WEP8;Q9NZI7 ABBA01024904;ABBA01024905;ABBA01024906;AC093114;AC122176;AF198487;AK023274;AK023278;AK023322;AK027177;AK293100;AK309430;AL133032;AL831847;AMYH01013069;BC047235;CH471055;CR749798;DB131031;NM_001128160;NM_001128161;NM_014517 AAF32274;AAH47235;ABZ92436;BAB14501;BAF85789;BAG51180;CAH18658;EAW64454;EAW64455;EAW64456;EAW64457;NP_001121632;NP_001121633;NP_055332;Q9NZI7 Hs.729120 1665229;1765701;1765859;2115429;5119100 D3S3159;SHGC-149141;SHGC-149281;SHGC-76821;STS-N49886 DKFZp686L1745;LBP-1B;LBP-1a;LBP1A;LBP1B OTTHUMP00000161314;OTTHUMP00000209005;OTTHUMP00000209006;transcription factor LBP-1;upstream-binding protein 1 protein-coding ENSG00000153560 12507 10291 609784 VALIDATED 1312638 UBQLN3 ubiquilin 3 Summary: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis, and proposed to regulate cell-cycle progression during spermatogenesis. [provided by RefSeq, Jul 2008] 11 11 11 p15 5647110 5649733 - 5485106 5487729 - 5528530 5531153 - 1580863;6480464;6907045 15489334;12477932;11121057;10831842;8125298 50613 C9IYQ4;Q9H347 ABBA01028652;AC087380;AF137396;AF230481;AMYH01003363;BC036743;CH471064;HC007374;HC044809;NM_017481 AAF67143;AAG41675;AAH36743;ABW03695;CBH19492;CBH30734;EAW68790;NP_059509;Q9H347 Hs.189184 1802916;1803710;1805274;1805590;2054608;2054610;2054612;2054614;2054616;2054618;2054620;2054622;2054624;2054626;2054628;2054630;2054632;2054634;2054636;2054638;2054640;2054642;2054644;2054646;2054648;2105850;2105852;2107749 ECD02347;ECD02761;ECD03583;ECD03745;REN98466;REN98467;REN98468;REN98469;REN98470;REN98471;REN98472;REN98473;REN98474;REN98475;REN98476;REN98477;REN98478;REN98479;REN98480;REN98481;REN98482;REN98483;REN98484;REN98485;REN98486;UBQLN3__5181;stSG611020;stSG611021 TUP-1 OTTHUMP00000069805;OTTHUMP00000069806;ubiquilin-3 APPROVED protein-coding ENSG00000175520 12510 05684 605473 REVIEWED 1350173 UBQLN2 ubiquilin 2 This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009] X X p11.21 56606797 56610102 + 56590026 56593443 + 5147832;6480464;6907045 21857683 18029348;19148225;18199683;17098253;16813565;16713569;15975090;15772651;15231748;12972570;12477932;12200120;11827521;11717310;10983987;10894951;10675567;9853615;18535780;18307982;22426854;14702039;22717235;22939629;16196087;17558393;22863883;22169395;21378313;19815544;21078624;21987572;21139048;21890473;21906983;19322201;22119785;20301623;23541532;21963094;21988832;23000965;22892309;23138764;22053931;22560112;22676852 29978 Q9UHD9 AB015344;ABBA01069410;ABBA01069411;AF189009;AF293385;AK001029;AK297252;AK302885;AL354793;AL442081;AMYH01022456;AU310783;BC069237;BI602998;CH471154;NG_016249;NM_013444 AAF17237;AAG02474;AAH69237;BAA34801;BAG59731;BAG64063;CAC09446;EAW93233;NP_038472;Q9UHD9 Hs.179309 1773021;1849815;2110015;2191085 A004O20;MARC_14449-14450:1010425235:1;RH36076;UBQLN2_9620 ALS15;CHAP1;CHAP1/DSK2;Dsk2;FLJ10167;FLJ56541;HRIHFB2157;LIC-2;N4BP4;PLIC-2;PLIC2;RIHFB2157 DSK2 homolog;Nedd4 binding protein 4;OTTHUMP00000023408;hPLIC-2;protein linking IAP with cytoskeleton 2;ubiquilin-2;ubiquitin-like product Chap1/Dsk2 APPROVED protein-coding ENSG00000188021 12509 02224 300264;300857 REVIEWED 1605287 UBQLNL ubiquilin-like 11 11 11 p15.4 5654203 5656536 - 5492199 5494532 - 5535623 5537956 - 6480464;6907045 14702039;12477932;20379614 143630 Q8IYU4 ABBA01028652;AC087380;AK057255;AMYH01003363;BC012183;BC034977;CH471064;NM_145053 AAH12183;AAH34977;BAB71398;EAW68789;NP_659490;Q8IYU4 Hs.10688 1770904;1798644;1798744;1799616;1799978;2054670;2054672;2054674;2054676;2054678;2054680;2054682;2054684;2054686;2054688;2054690;2054692;2054694;2054696;2054698;2054700;2054702;2054704;2054706;2054708;2105858;2105860;2105862;2158490 D11S4344;D11S4356;ECD00161;ECD00212;ECD00662;ECD00843;REN98497;REN98498;REN98499;REN98500;REN98501;REN98502;REN98503;REN98504;REN98505;REN98506;REN98507;REN98508;REN98509;REN98510;REN98511;REN98512;REN98513;REN98514;REN98515;REN98516;stSG611024;stSG611025;stSG611026 MGC20470;MGC26958 OTTHUMP00000069822;ubiquilin-like protein protein-coding ENSG00000175518 28294 14472 VALIDATED 731465 UBQLN1 ubiquilin 1 This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 9 9 q22 85464699 85512773 - 86274878 86323168 - 6480464;6907045 11853878;19148225;19112176;18953672;18467327;18340109;18241885;17947293;17709205;17614368;17082820;16945923;16815845;16813565;16725228;16713569;16526030;16504527;16461334;16344560;16302009;16278862;16214290;16189514;16091357;15975090;15745979;15492808;15489334;15231748;15004330;14702039;12634373;12477932;12095988;11528422;11256614;11230166;11076969;10983987;10807547;10549293;10390159;9303440;9268694;18307982;18535780;23649778;23663107;19822669;20350585;20379614;16799550;16862145;20529957;21143716;22863883;22939629;16196087;17558393;21695056;20059542;20693704;11827521;15147878;18781797;19815544;21852239;21987572;20972266;21139048;21890473;21906983;22233804;14662753;16159959;17603015;18199683;22272618;22428841;17098253;22134777;16007098;16712842;22053931;22505724;18985028;21963094;21988832;22766032;23000965;23246001;23307288;23383273;23459205 29979 H0YDS0;H0YEZ9;Q9UMX0 AB035275;AB209468;ABBA01034003;AF176069;AF293384;AK027556;AK027576;AK074535;AL136643;AL354920;AMYH01021459;BC010066;BC039294;CH471089;DA317805;NG_011519;NM_013438;NM_053067 AAD49751;AAG02473;AAH10066;AAH39294;BAB20436;BAD92705;BAG51344;BAG51350;CAB66578;EAW62658;EAW62659;EAW62660;EAW62661;EAW62662;EAW62663;EAW62664;NP_038466;NP_444295;Q9UMX0 Hs.9589 1685251;2116732;2149875 RH91462;RH94362;WI-21584 DA41;DSK2;FLJ90054;PLIC-1;UBQN;XDRP1 OTTHUMP00000021544;OTTHUMP00000021545;hPLIC-1;protein linking IAP with cytoskeleton 1;ubiquilin-1 APPROVED protein-coding ENSG00000135018 12508 05440 605046 REVIEWED 1344813 UBQLN4 ubiquilin 4 1 1 1 q21 129078055 129096477 - 154271716 154290140 - 156005092 156023516 - 6480464;6907045 16169070;16713569;11001934;18079109;15489334;12477932;11162551;10575211;18307982;15280365;20940304;20702650;15231748;17290220;22939629;17558393;21900206;21139048;21890473;21906983;21963094;21988832;23000965;23128233;23459205 56893 Q9H8R7;Q9NRR5 AB209566;ABBA01016674;ABBA01016675;AF113544;AF188240;AK098368;AK302895;AK314413;AL355388;AMYH01001434;BC006410;BC018403;BC063841;CH471121;NM_020131 AAF19084;AAF80171;AAH06410;AAH18403;AAH63841;BAD92803;BAG37034;BAG64068;EAW53005;EAW53006;EAW53007;EAW53008;EAW53009;NP_064516;Q9NRR5 Hs.283739 1656103;1680817;1773203 RH12747;RH41451;RH70381 A1U;A1Up;C1orf6;CIP75;UBIN OTTHUMP00000018848;ataxin-1 interacting ubiquitin-like protein;ataxin-1 ubiquitin-like interacting protein;ataxin-1 ubiquitin-like-interacting protein A1U;connexin43-interacting protein of 75 kDa;ubiquilin-4 protein-coding ENSG00000160803 1237 05670 605440 PROVISIONAL 1347280 UBR1 ubiquitin protein ligase E3 component n-recognin 1 The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008] 15 15 q13 41022387 41185578 - 43235095 43398286 - 1580863;6480464;7240710 19058315;19006206;18366806;18089810;17569795;17462600;17222803;17018293;16311597;16169070;16055722;15548684;15489334;15317757;15302935;14702039;12477932;12434312;9653112;8901547;7633422;21145461;17643375;21041297;20556423;22939629;18775313;21816346;21900206;21903422;21931868;21987572;12524449;21139048;21890473;21906983;21711208;17360488;17855541;22505724 197131 H3BNQ6;H3BQF8;H3BS20;H3BUC4;H3BUZ4;Q8IWV7 ABBA01038356;ABBA01038357;AC068724;AC090514;AF061556;AF525401;AK027803;AK054969;AK056441;AK127478;AK292516;AK302489;AMYH01006586;AMYH01006587;AY061886;BC113505;BC113507;BE873236;BX648400;CH471125;CR749326;NG_012182;NM_174916;Z47040 AAC39845;AAI13506;AAI13508;AAL32103;AAO14997;BAB55380;BAF85205;BAG63774;CAH18181;EAW92584;NP_777576;Q8IWV7 Hs.591121 1654169;1660383;1677242;1698556;1783182;1783298;2111254;2111256;2126032;2134880 A008V23;D15S499;D15S500;G17873;RH102830;RH93131;SHGC-132955;SHGC-58004;SHGC-68631;WI-15137 JBS;MGC142065;MGC142067 E3 ubiquitin-protein ligase UBR1;E3a ligase;N-recognin-1;OTTHUMP00000161295;ubiquitin ligase E3 alpha-I;ubiquitin-protein ligase E3-alpha;ubiquitin-protein ligase E3-alpha-1;ubiquitin-protein ligase E3-alpha-I APPROVED protein-coding ENSG00000159459 16808 09342 243800;605981 REVIEWED 1350466 UBR4 ubiquitin protein ligase E3 component n-recognin 4 The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010] 1 1 1 p36.13 17728031 17863733 - 19273587 19409333 - 19401000 19536746 - 6480464 16247014;16214886;16061792;16055722;14702039;12477932;10718198;9455484;9110174;8619474;17353931;15231748;20379614;19013454;21110914;22863883;22939629;16196087;22586326;12938929;21139048;21890473;21906983;18775313;21900206;21987572;23314748;23383273;17360488;17855541;19380743;22174317;22190034 23352 B4DPF6;B4DYV5;Q5TBN9;Q8WV67 AA748129;AB007931;AB037728;ABBA01059754;AF055010;AF348492;AJ505016;AK000331;AK001233;AK022322;AK022573;AK022924;AK023826;AK024105;AK025149;AK026543;AK056218;AK092390;AK123857;AK125800;AK298314;AK302623;AL049972;AL137127;AL357564;AMYH01000313;AMYH01000314;BC007962;BC015865;BC018694;BC041137;BC063573;BC073905;BC096758;CH471134;NG_027669;NM_020765 AAC09360;AAH07962;AAH18694;AAH63573;AAH73905;AAH96758;AAL83880;BAA32307;BAA92545;BAB14011;BAC86298;BAG50874;BAG51094;BAG60568;BAG63867;CAB43227;CAD43719;EAW94864;EAW94865;EAW94866;EAW94867;EAW94868;EAW94869;NP_065816;Q5T4S7 Hs.148078;Hs.649405 1338008;1693126;1733060;1758079;2120347;2165996;2176802;5491435 AL009362;AL010099;AL034283;D1S1405;D1S378;MARC_11973-11974:1003947509:1;SHGC-147292;SHGC-74307 FLJ41863;KIAA0462;KIAA1307;RBAF600;RP5-1126H10.1;ZUBR1;p600 600 kDa retinoblastoma protein-associated factor;E3 ubiquitin-protein ligase UBR4;N-recognin-4;OTTHUMP00000002585;retinoblastoma-associated factor 600;retinoblastoma-associated factor 600-like protein;retinoblastoma-associated factor of 600 kDa;zinc finger UBR1-type protein 1 APPROVED protein-coding ENSG00000127481 30313 10184 609890 REVIEWED 1317795 UBTD1 ubiquitin domain containing 1 10 10 10 q24.2 92996834 93068256 + 99248758 99320950 + 99258768 99330960 + 737633;1580863;6480464 12477932 16189514;15489334;15164054;14702039;8125298;17207965;21139048;21906983;21890473;21988832;23000965;23251661;23398456 80019 Q9HAC8 ABBA01021800;ABBA01021801;ABBA01021802;AK021869;AK222597;AL359388;AMYH01002977;AMYH01002978;BC007331;CH471066;NM_024954 AAH07331;ADQ31617;BAB13921;BAD96317;EAW49918;EAW49919;EAW49920;NP_079230;Q9HAC8 Hs.500724 1684526;1719631 RH123720;RH99032 FLJ11807 OTTHUMP00000020209;ubiquitin domain-containing protein 1 protein-coding ENSG00000165886 25683 08568 PROVISIONAL 1312367 UBTFL1 upstream binding transcription factor, RNA polymerase I-like 1 UBTFL1 is a preimplantation-specific gene and is involved in early development, implantation, and embryonic stem (ES) cell derivation (summary by Yamada et al., 2010 [PubMed 19915186]).[supplied by OMIM, Jan 2011] 11 11 11 q14.3 85144267 85145448 + 89458757 89459947 + 89819118 89820299 + 19915186;16554811 642623 P0CB47 ABBA01040074;AMYH01003934;AP000827;NM_001143975 NP_001137447;P0CB47 Hs.719885 C11orf27;HMGPI OTTHUMP00000207680;putative upstream-binding factor 1-like protein 1;upstream-binding factor 1-like protein 1 APPROVED protein-coding 14533 613696 VALIDATED 2302195 UBTFL2 upstream binding transcription factor, RNA polymerase I-like 2 (pseudogene) 11 11 11 q14.3 85144253 85145221 + 89125601 89126791 - 89486180 89487148 - 19915186 120126 ABBA01011516;AMYH01003871;AP003122;CH471185;NG_012230 EAW59351 APPROVED pseudo 35169 INFERRED 2302836 UBTFL3 upstream binding transcription factor, RNA polymerase I-like 3 (pseudogene) 2 2 q11.1 95636548 95655906 + 96290998 96292152 + 15815621;17974005 129870 AC009237;NG_023214 UBTFL5 putative upstream-binding factor 1-like protein 3/5 APPROVED pseudo 35402 INFERRED 2302186 UBTFL4 upstream binding transcription factor, RNA polymerase I-like 4 q11.1 100216327 BX647558 Hs.639911 protein-coding 35403 2302192 UBTFL5 upstream binding transcription factor, RNA polymerase I-like 5 (pseudogene) 2 2 q11.1 95479780 95499138 - 96116053 96117234 - 728231 AC133104;NG_023413 upstream binding transcription factor, RNA polymerase I-like 5 APPROVED pseudo 35405 VALIDATED 2302194 UBTFL6 upstream binding transcription factor, RNA polymerase I-like 6 (pseudogene) 2 2 2 q11.2 92457050 92459089 - 97619480 97621638 - 98253048 98254228 - 15815621 643615 P0CB48 ABBA01073975;AC017099;AMYH01010794;NG_027836 P0CB48 Putative upstream-binding factor 1-like protein 6;upstream binding transcription factor, RNA polymerase I-like 6 APPROVED pseudo 35406 INFERRED 2302191 UBTFL7 upstream binding transcription factor, RNA polymerase I-like 7 (pseudogene) 11 11 11 p11.12 49254816 49255997 + 49060044 49061225 + 49103468 49104649 + 11181995 646759 ABBA01060669;AC084851;AMYH01003568;CH471064;NG_006986 EAW67862 APPROVED pseudo 35404 INFERRED 7074327 UBTFL8 upstream binding transcription factor, RNA polymerase I-like 8 (pseudogene) 3 p26.1 5121263 5126193 - 643182 ABBA01020462;AC090955;AMYH01012951;NG_008907 pseudo 44476 INFERRED 1313853 UBR2 ubiquitin protein ligase E3 component n-recognin 2 This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 6 6 6 p21.1 44084013 44213528 + 42640036 42766889 + 42531760 42661243 + 6480464 16311597;15548684;15489334;15317757;14702039;14585983;14574404;12477932;9205841;18029348;17643375;19940298;20298436;20379614;16196087;17314511;20080676;22616001;18775313;21816346;21903422;21987572;21139048;21573678;21890473;21906983;21963094;23000965;23251661;17360488;17855541;22053931;22190034;22190037;22505724 23304 B3KXG6;Q8IWV8 AB002347;ABBA01050725;ABBA01050726;ABBA01050727;AK026998;AK090874;AK093676;AK125795;AK127310;AK304070;AK310532;AL049843;AL136223;AL391814;AMYH01016304;AMYH01016305;AMYH01016306;AY061884;BC024217;BC064512;BC080623;BX647467;CH471081;DR003057;HM370397;NM_001184801;NM_015255 AAH24217;AAH64512;AAI56046;AAL32101;BAA20806;BAC86295;BAG54478;BAG64977;EAX04094;EAX04095;EAX04096;EAX04097;NP_001171730;NP_056070;Q8IWV8 Hs.529925 1664160;1676574;1688184;1700530;1735620;1777224;1848619;2123671;2147364;2163209;2169239;2169241;2186426;5015404;5015861;5015961;5020740;5020948;5021543;5022578;5022651;5024413;7185938 A002V07;A006G20;D10S16;D11S2921;D15S1477;D1S1423;D6S1227E;G20787;G35510;L17705;L17809;L17877;RH103886;RH16533;RH26772;RH36338;RH45756;RH46716;RH65639;RH79035;RH80397;STS-N38966 C6orf133;DKFZp686C08114;FLJ36357;KIAA0349;MGC71112;RP3-392M17.3;bA49A4.1;dJ242G1.1;dJ392M17.3 E3 ubiquitin-protein ligase UBR2;OTTHUMP00000016403;OTTHUMP00000016405;OTTHUMP00000070741;ubiquitin-protein ligase E3-alpha-2;ubiquitin-protein ligase E3-alpha-II APPROVED protein-coding ENSG00000024048 21289 09853 609134 REVIEWED 1346219 UBR3 ubiquitin protein ligase E3 component n-recognin 3 (putative) 2 2 2 q31.1 164300400 164556964 + 170514548 170648883 + 170684018 170940641 + 6480464 17462990;16344560;15815621;15489334;14702039;12477932;8889548;19910543;19549727;19850743;21816346;21139048;21890473;21906983;21933813;22493164;17360488;17855541 130507 F8WEB7;H0Y3K2;H7BZD8;H7C481;Q6ZT12 AB095944;ABBA01014900;ABBA01014901;ABBA01014902;ABBA01014903;ABBA01014904;AC009967;AC079151;AC092641;AI142128;AK094741;AK126998;AK127553;AK128490;AK303062;AL834144;AMYH01011253;AMYH01011254;BC044060;BC044594;BC113010;BF446017;BU158552;BU686724;BX281113;BX494687;BX649036;CH471058;CR749469;DA108743;DA234864;DA301129;DA352029;DN831941;DR731153;NM_172070 AAY14890;BAC23120;BAC86783;BAC87032;BAC87462;BAG64179;CAD38857;CAH18299;EAX11248;EAX11249;EAX11250;NP_742067;Q6ZT12 Hs.379548 1688664;1720195;1722207;1726611;1728585;1856692;2136840;2155382;2181109;2182472;2183111;5491431 D2S1316;D2S2775;G60007;G62540;G63584;MARC_11813-11814:1029266043:1;RH124011;RH45361;RH70936;RH93598;SGC38024;SHGC-35469 DKFZp434P117;DKFZp686N10185;FLJ37422;KIAA2024;MGC126489;ZNF650 E3 ubiquitin-protein ligase UBR3;N-recognin-3;OTTHUMP00000163072;ubiquitin protein ligase E3 component n-recognin 3;ubiquitin-protein ligase E3-alpha-3;ubiquitin-protein ligase E3-alpha-III;zinc finger protein 650 protein-coding ENSG00000144357 30467 15887 613831 VALIDATED 1605385 UBR5 ubiquitin protein ligase E3 component n-recognin 5 This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008] 8 8 q22 103334745 103493671 - 103264501 103424917 - 2306813;6480464;6907045 14871824 20096703;21145461;22884692;17696464;17897937;21726813;22374670;17353931;10030672;12011095;18349819;18073532;17081983;17074762;16565220;16083285;16055722;15592455;15231748;14702039;12902990;12840015;12594221;12477932;12168954;11714696;11287654;10048485;20544796;16601676;17148452;17643375;19270065;19615732;20025491;21127351;21228227;20805509;22990118;22939629;23069210;23362280;23383273;21118991;21383020;20351170;16335966;23455922;23612978;23667531;23752268;16196087;16051665;18775313;19287380;20360068;21949371;18457437;21726808;21942715;22118674;21252943;21320693;12938929;19471022;21139048;21693764;21890473;21906983;17620599;22586326;22496338;21963094;21987572;23000965;23407552;23524849;17360488;17855541;22505724;23027739 51366 E5RFK7;E7EMW7;E7ET84;H0YAV7;H0YBB4;J3KMW7;O95071 AB020703;ABBA01037602;ABBA01037603;ABBA01037604;ABBA01037605;AF006010;AK002172;AK124995;AL833555;AMYH01018935;AP002907;AP002981;BC037843;BC044598;BC053948;BC137234;BC151231;BX489192;CH471060;NM_015902;U95000 AAD01259;AAF88143;AAH44598;AAI37235;BAA74919;BAG51024;EAW91843;EAW91844;EAW91845;EAW91846;NP_056986;O95071 Hs.492445 1646142;1663688;1675477;1786590;2115724;2117348;2122760;2124675;2148625;2157067;2161189;2164300;2164302;2171933;2184612;2190569 A004H21;A005L32;A006N17;EST4E9;G20314;HSC2MD092;RH15795;RH17938;RH18437;RH46007;RH48415;SGC33262;SHGC-142115;SHGC-52495;STS-H27554;WI-21460 DD5;EDD;EDD1;FLJ11310;HYD;KIAA0896;MGC57263 E3 identified by differential display;E3 ubiquitin protein ligase, HECT domain containing, 1;E3 ubiquitin-protein ligase UBR5;E3 ubiquitin-protein ligase, HECT domain-containing 1;OTTHUMP00000227389;OTTHUMP00000227453;OTTHUMP00000227455;hHYD;hyperplastic discs protein homolog;progestin induced protein;progestin-induced protein;ubiquitin-protein ligase APPROVED protein-coding ENSG00000104517 16806 06436 608413 REVIEWED 1344986 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14 14 14 q32.12 73727407 73749585 + 92743154 92765314 + 93673401 93695561 + 6480464 18029348;18162545;16713569;16344560;15489334;14702039;12477932;22863883;22939629;21139048;21890473;21906983;19410544;22505724 55148 E9PCJ7;G3V253;G3V2G3;G3V336;H0YJA0;H0YJM2;H0YJY4;Q8N806 ABBA01030434;ABBA01030435;AK001345;AK097477;AK315492;AL110118;AL132838;AMYH01005965;BC015046;BC017013;BC051819;BX248249;CH471061;DA158479;DB047433;NM_175748;NR_038150 AAH15046;AAH17013;AAH51819;BAA91639;BAC05069;BAG37876;CAD62577;EAW81521;EAW81522;EAW81523;NP_786924;Q8N806 Hs.743356 1647356;1670117;1721721;1736458;2120576;2132051;2184434 D14S714E;D14S837;G31016;G36175;G59725;NIB303;WI-15801 C14orf130;FLJ10483;MGC9518 N-recognin-7;OTTHUMP00000245677;OTTHUMP00000245682;putative E3 ubiquitin-protein ligase UBR7 protein-coding ENSG00000012963 20344 16602 613816 VALIDATED 1320427 UBXN2A UBX domain protein 2A 2 2 2 p23.3 24003779 24064099 + 24016880 24077200 + 24163376 24223696 + 737633;6480464 12477932 15489334;21326311;19197348;19615732;22454508;18775313;21900206;21139048;21890473;22318606;23000965;23251661 165324 B7ZKP8;P68543 ABBA01045096;ABBA01045097;ABBA01045098;ABBA01045099;AC066692;AK291192;AL832079;AMYH01010164;BC016364;BC037901;BC092484;BC093681;BC111997;BC143298;CH471053;NM_181713 AAH92484;AAH93681;AAI11998;AAI43299;AAY14818;BAF83881;EAX00777;EAX00778;EAX00779;EAX00780;NP_859064;P68543 Hs.591576 2164574;2164576;5016478;5022578;5022651 A005Z15;D11S2921;D1S1423;G20619;GDB:434012 MGC138202;UBXD4 OTTHUMP00000155152;OTTHUMP00000200716;UBX domain containing 4;UBX domain-containing protein 2A;UBX domain-containing protein 4 protein-coding 27265 10292 VALIDATED 1318044 UBXN10 UBX domain protein 10 1 1 1 p36.12 18835696 18843061 + 20385165 20392529 + 20512578 20519942 + 737633;6480464 12477932 15489334;14702039;17207965;21832049;18775313 127733 Q3ZCW1;Q96LJ8 ABBA01059774;AK058158;AMYH01000319;BC036417;BC047428;BX648631;CH471134;NM_152376;Z98257 AAH36417;AAH47428;ADQ32492;BAB71693;EAW94920;NP_689589;Q96LJ8 Hs.432503 1657356;1686222;1687347 RH91975;RH98493;SHGC-74326 FLJ25429;UBXD3 OTTHUMP00000002792;UBX domain containing 3;UBX domain-containing protein 10;UBX domain-containing protein 3 APPROVED protein-coding 26354 18255 PROVISIONAL 737092 UBXN11 UBX domain protein 11 This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 p36.11 25005107 25041075 - 26481360 26517343 - 26608773 26644756 - 6480464 18974390;16344560;16202387;16189514;15231748;14702039;14583468;12477932;11940653;9110174;8619474;18775313;23251661 91544 B7Z1T8;B7Z3N8;Q5T118;Q5T130;Q8NFE4 ABBA01034902;ABBA01034903;ABBA01034904;AF370425;AF520989;AF521017;AF521018;AK074358;AK090792;AK093258;AK094198;AK097368;AK291503;AK293910;AK296179;AL451139;AMYH01000397;AY007163;BC038106;BM987787;BX647774;BX648412;CH471059;CR749413;DA421971;DA989799;NG_028986;NM_001077262;NM_145345;NM_183008 AAH38106;AAM74201;AAM74202;AAM76060;AAQ15261;BAC04112;BAC04307;BAC05024;BAF84192;BAH11624;BAH12274;CAH18255;CAH56155;EAX07823;EAX07824;EAX07825;EAX07826;EAX07827;EAX07828;EAX07829;EAX07830;NP_001070730;NP_663320;NP_892120;Q5T124 Hs.145061 COA-1;DKFZp686F04228;PP2243;SOC;SOCI;UBXD5 OTTHUMP00000003460;OTTHUMP00000003461;OTTHUMP00000003462;OTTHUMP00000003463;OTTHUMP00000003562;OTTHUMP00000038076;UBX domain containing 5;UBX domain-containing protein 11;UBX domain-containing protein 5;colorectal tumor-associated antigen COA-1;colorectal tumor-associated antigen-1;socius APPROVED protein-coding ENSG00000158062 30600 10245 609151 REVIEWED 1601834 UBTD2 ubiquitin domain containing 2 5 5 5 q35.1 167669063 167693766 - 171569255 171643400 - 171636650 171710795 - 6480464 16344560;15987890;15489334;15372022;14702039;12507522;12477932;20440844;18029348;21890473;21906983 92181 B3KMW8;Q8WUN7 ABBA01044049;ABBA01044050;ABBA01044051;ABBA01044052;AC008671;AC024561;AF251700;AK022894;AK313274;AMYH01015811;AU117374;BC019910;BU849695;CH471062;NM_152277 AAH19910;AAL99389;BAG36083;BAG51130;EAW61436;EAW61437;NP_689490;Q8WUN7 Hs.131570 1686734;1693810;1706754;1854783;2115577 A008U21;RH93379;SHGC-58952;SHGC-80843;WI-22520 DC-UbP;DCUBP;MGC30022 OTTHUMP00000161074;ubiquitin domain-containing protein 2;ubiquitin-like protein SB72 protein-coding ENSG00000168246 24463 13118 610174 VALIDATED 6481379 UBXN7-AS1 UBXN7 antisense RNA 1 100874034 AC083822 APPROVED miscrna 41227 734082 UBTF upstream binding transcription factor, RNA polymerase I This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011] 17 17 q21.31 39637927 39653776 - 42282401 42298994 - 1580863;1580791;6480464 12885411 21177859;2014238;2330041;16777843;9582279;11741541;12393749;12646563;19088274;18502146;17699751;17505112;17260958;16924243;16858408;16809778;15970593;15924431;15761153;15752694;15635413;15598984;15489334;15342556;15282543;15249688;15226435;12748295;12590579;12554758;12498690;12477932;11969401;11916260;11790298;11698641;11592397;11250903;11106745;11075946;11042686;10329630;10202152;9426281;9126496;8702533;8641287;8552083;7651819;3413483;1940801;10913176;15723054;21162312;21668587;22393235;22505724;22586326;22939629;22952844;15975576;16169070;17251981;17318177;18029348;19174463;19393134;19452555;19527688;20160071;20197409;17332342;20713446;16186106;19454010;15016909;7877691;21182205;21546905;21252943;19596686;22178446;19471022;21139048;21555454;21693764;21890473;21906983;22147730 7343 E9PKP7;E9PLT2;E9PMM2;H0YDH7;P17480 ABBA01028381;ABBA01028382;AC004596;AF289595;AJ308590;AK291733;AK292518;AK292577;AK296917;AK298008;AK308321;AMYH01008413;AMYH01008414;AMYH01008415;AMYH01008416;BC031423;BC042297;BP230502;CH471178;DR000113;M61724;NG_029864;NM_001076683;NM_001076684;NM_014233;NR_045058;U65487;X53390;X53461;X56687 AAC51239;AAH31423;AAH42297;AAL55779;BAF84422;BAF85207;BAF85266;BAG59472;BAG60313;CAA37469;CAA37548;CAA40016;CAC34632;EAW51616;EAW51617;EAW51618;EAW51619;EAW51620;NP_001070151;NP_001070152;NP_055048;P17480 Hs.89781 1644865;1688789;2110017;2123502;2132091;2134353;2143678;2190887;2191343;5019703;5096496 A009G46;D17S2047;G15974;G32535;MARC_10313-10314:998934876:1;MARC_17735-17736:1031759262:1;RH70694;RH93951;SHGC-30675;STS-N39596;UBTF__5182 NOR-90;UBF;UBF-1;UBF1 90-kDa nucleolus organizer region autoantigen;OTTHUMP00000236247;OTTHUMP00000236248;OTTHUMP00000236257;OTTHUMP00000236258;OTTHUMP00000236259;OTTHUMP00000236260;OTTHUMP00000236261;OTTHUMP00000236283;UBF-1;autoantigen NOR-90;nucleolar transcription factor 1;transcription factor ubf;upstream-binding factor 1 APPROVED protein-coding ENSG00000108312 12511 02814 600673 REVIEWED 2299012 UBXN2B UBX domain protein 2B 8 8 8 q12.1 55316857 55357075 + 59486377 59526614 + 59323823 59364060 + 6480464 14702039;12477932;9110174;8619474;17141156;19615732;20379614;20875789;18775313;21906983;21963094;23496005;23649807 137886 E5RGJ4;E5RJ36;H0YAX6;Q14CS0 ABBA01041788;AC009927;AK054658;AK091561;AK126300;AL831990;AL833075;AMYH01018742;BC113645;BX647876;NM_001077619;U79282 AAI13646;ADR83146;BAG54305;NP_001071087;Q14CS0 Hs.155572 1677897;1684220;1689332 RH81080;RH92458;RH98878 p37 NSFL1 cofactor p37;OTTHUMP00000226407;UBX domain-containing protein 2B;p97 cofactor p37 protein-coding ENSG00000215114 27035 610686 VALIDATED 1351035 UCHH2 ubiquitin carboxyl-terminal esterase H2 (ubiquitin thiolesterase) 7344 12512 1606294 UBXN1 UBX domain protein 1 11 11 11 q12.3 59773551 59776106 - 62200548 62203103 - 62443972 62446527 - 6480464 10942595;15944415;15761153;15489334;15362974;14702039;12477932;17353931;19285159;21145461;22902628;17207965;12838346;19615732;20351172;21135095;18775313;22863883;22939629;18781797;21987572;21139048;21890473;21906983;16396636;22053931;22505724 51035 E9PJ81;E9PRQ7;E9PS08;Q04323 ABBA01003236;AK054832;AK297856;AK300542;AK303471;AK316012;AMYH01003690;AP001458;BC000902;BC001372;BC032689;BC040129;CH471076;CQ834654;M68864;NM_015853 AAA36396;AAH00902;AAH01372;AAH32689;AAH40129;ACT64462;ADQ33212;BAG51430;BAG60188;BAG62250;BAG64510;BAH14383;CAH05542;EAW74061;EAW74062;EAW74063;EAW74064;EAW74065;EAW74066;EAW74067;NP_056937;Q04323 Hs.351296 1676168;1745985 RH125269;RH79660 2B28;SAKS1;UBXD10 OTTHUMP00000236216;OTTHUMP00000236217;OTTHUMP00000236219;OTTHUMP00000236220;SAPK substrate protein 1;UBA/UBX 33.3 kDa protein;UBX domain-containing protein 1 APPROVED protein-coding ENSG00000162191 18402 11266 PROVISIONAL 7243017 UCHL1-AS1 UCHL1 antisense RNA 1 (head to head) 15146197;16344560 101410542 AC095043;AC096712;CN277289;DB169394;NR_102709 miscrna 40600 VALIDATED 1353779 UCHL2 ubiquitin carboxyl-terminal esterase L2 (ubiquitin thiolesterase) 7346 12514 2311619 UCA1 urothelial cancer associated 1 (non-protein coding) This gene represents a long non-coding RNA. It plays a regulatory role in bladder cancer cell proliferation. Several genes can be regulated by this gene, and the most important one is the CREB (cAMP responsive element binding protein) gene, which encodes a transcriptional factor and affects the oncogenesis. [provided by RefSeq, Mar 2012] 19 19 19 p13.12 15837671 15844144 + 15939757 15946230 + 15939757 15947131 + 6480464 20117985;18501714;17416635;16914571;14702039;12477932;22576688;23801869;22118674;22285928 652995 ABBA01051124;AC004510;AK024303;AK092401;AMYH01009556;BC005351;BC017567;BC022824;BC055082;BC070340;BC107722;DQ249310;DQ343132;EU334869;GU357550;GU799561;GU799562;GU799563;GU799564;GU799565;HQ833208;HQ833209;NR_015379 Hs.644234 1696980;2120291;2130857;5111919 A009A18;G42921;RH101962;SHGC-56644 CUDR;LINC00178;NCRNA00178;UCAT1 APPROVED miscrna ENSG00000214049 37126 REVIEWED 1316650 UBXN4 UBX domain protein 4 UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008] 2 2 2 q21.3 130209950 130253395 + 136215659 136259103 + 136499189 136542633 + 6480464 16968747;16381901;15489336;15489334;15342556;14702039;12477932;11230166;11076863;9039502;16169070;18775313;19822669;18029348;21139048;21906983;21979947;19322201;18711132 23190 C9JLR4;F8WB86;Q6PJ80;Q92575 ABBA01028163;AC011893;AI039259;AK026971;AK095402;AK292829;AK304096;AK311058;AMYH01011123;AMYH01011124;BC020806;BC035594;BP247627;BX647216;BX647662;CH471058;D87684;EF199840;NM_014607 AAH20806;AAH35594;AAX88923;ABM82049;ABM85228;ABM90426;BAA13437;BAF85518;BAG53047;BAG65002;CAL37639;CAL38355;EAX11623;EAX11624;EAX11625;NP_055422;Q92575 Hs.591242 1693506;1754641;1797020;2137974;2171337;5492125 BARC0057;RH67789;RH70068;SHGC-132989;SHGC-58383;UBXD2_1405 FLJ23318;KIAA0242;KIAA2042;UBXD2;UBXDC1;erasin OTTHUMP00000204140;UBX domain containing 2;UBX domain-containing 1;UBX domain-containing protein 2;UBX domain-containing protein 4 APPROVED protein-coding ENSG00000144224 14860 18254 611216 VALIDATED 1603319 UBXN8 UBX domain protein 8 8 8 8 p12-p11.2 29561773 29584614 + 30721232 30744064 + 30601690 30624522 + 6480464 9027507;21949850;15489334;12477932;17207965;18775313;21890473;21906983 7993 O00124 ABBA01023656;ABBA01023657;ABBA01023658;AC009314;AK296600;AMYH01018619;AY302140;BC020694;BI462115;CH471080;D83767;D83768;NM_005671 AAH20694;AAP57632;ADQ32086;BAA18958;BAA18959;BAG59213;EAW63437;EAW63438;EAW63439;NP_005662;O00124 Hs.153678 1647855;5094010 A010A35;G33054 D8S2298E;REP8;UBXD6 Reproduction/chromosome 8;UBX domain containing 6;UBX domain-containing protein 6;UBX domain-containing protein 8;rep-8 protein;reproduction 8 protein protein-coding 30307 03692 602155 VALIDATED 1347744 UBXN6 UBX domain protein 6 19 19 19 p13 4383244 4396018 - 4396261 4408790 - 4445003 4457791 - 6480464;6907045 18656546;19275885;19174149;15489334;12477932;11342112;16341674;18775313;21832049;22939629;21822278;18029348;21896481;16807242;19322201;17623298;21139048;21900206;21906983;21914798;22337587;22350894;22505724 80700 K7EJ02;K7ELN1;K7EP32;Q9BZV1 ABBA01056072;ABBA01056073;AC011498;AF272893;AF272894;AK090473;AL833695;AMYH01009333;BC007414;BC008288;BC017113;BM764980;CH471139;NM_001171091;NM_025241 AAH07414;AAH08288;AAH17113;AAK13257;AAK13258;BAC03454;EAW69219;EAW69220;EAW69221;EAW69222;EAW69223;NP_001164562;NP_079517;Q9BZV1 Hs.435255 1682525;1690812;1694452;2169227;5094064 G34951;G42939;RH67001;RH78272;RH80339 DKFZp667D109;FLJ00394;UBXD1;UBXDC2 UBX domain containing 1;UBX domain-containing 1;UBX domain-containing 2;UBX domain-containing protein 1;UBX domain-containing protein 6 protein-coding ENSG00000167671 14928 18253 611946 VALIDATED 1626527 UCKL1-AS1 UCKL1 antisense RNA 1 20 20 20 q13.33 59271371 59274972 + 62055181 62055939 + 62584737 62588338 + 14702039;17525332 100113386 ABBA01021434;AK128497;AL118506;AMYH01012095;NR_027287 Hs.551552 2114012;5015621;5020948;5022578;5022651;5037552;5109281 AB056405;D11S2921;D11S3732;D1S1423;D1S1425;D8S2279;G35510 FLJ46647;UCKL1-AS;UCKL1AS;UCKL1OS APPROVED miscrna 31967 VALIDATED 1607058 UBXN7 UBX domain protein 7 3 3 3 q29 194660553 194739639 - 197564758 197643742 - 196080361 196159345 - 6480464 22537386;21145461;22466964;18775313;16344560;15489334;14702039;12477932;9872452;22863883;21832049;22939629;21645854;19471022;20972266;21139048;21693764;21890473;21906983;21963094;18781797;21987572;21252943;22505724;22053931;23000965;23251661 26043 C9JAT7;C9JD50;F5GYB1;F8WB69;H7BYF4;O94888 AB018337;ABBA01033735;ABBA01033736;ABBA01033737;ABBA01033738;AC069257;AC083822;AK026451;AK129880;AK303630;AK307899;AK308699;AMYH01013793;AMYH01013794;BC028986;BC047420;BG253663;CH471191;DA119173;NM_015562 AAH28986;AAI60090;BAA34514;BAC85247;BAG64638;EAW53652;EAW53654;NP_056377;O94888 Hs.518524 1686927;1770754;5037552 D3S4114;D8S2279;WIAF-2556 KIAA0794;UBXD7 OTTHUMP00000208358;UBX domain containing 7;UBX domain-containing protein 7 protein-coding 29119 VALIDATED 1318012 UCK1 uridine-cytidine kinase 1 This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012] 9 9 9 q34.13 104939363 104946841 - 133389012 133396476 - 134399183 134406662 - 737633;1580863;634248;6480464;6907045 12477932;10581173 11306702;18080217;16344560;15489334;15164053;14702039;16169070;22505724 83549 G3V170;Q5JT09;Q9HA47 AA809511;ABBA01012098;AF125106;AF237290;AF254133;AK022317;AK057848;AK295471;AK307475;AL358781;AMYH01021779;BC015547;BC091495;BI770572;CH471090;CR457281;DA598285;HH961850;NM_001135954;NM_001261450;NM_001261451;NM_031432 AAH15547;AAH91495;AAK28324;AAK49122;AAL75943;BAB14010;BAG58400;CAG33562;CBX51398;EAW87979;EAW87980;EAW87981;EAW87982;EAW87983;EAW87984;NP_001129426;NP_001248379;NP_001248380;NP_113620;Q9HA47 Hs.9597 1650380;1701256;1753987;2120293;2145061;2175833;2175989;2187188 A004H35;A004N19;D9S1959;D9S2067;NIB247;RH104256;RH16428;SHGC-132019 FLJ12255;RP11-334J6.5;URK1 OTTHUMP00000022400;OTTHUMP00000022401;OTTHUMP00000022403;OTTHUMP00000022404;UCK 1;cytidine monophosphokinase 1;uridine monophosphokinase 1;uridine-cytidine kinase 1 APPROVED protein-coding ENSG00000130717 14859 18256 609328 REVIEWED 733510 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009] 4 4 p14 40953686 40965203 + 41258898 41270446 + 1580538;1302547;1302546;1580863;1300048;1302562;1302872;5490154;6480464;6907045;7240710 14722078;9774100;11555633;10471497;14556719;18836575 22076440;22246902;22279545;21268678;21319273;22641175;8639624;9521656;12082530;16130169;18029348;19535597;19343046;19329225;19261853;19224617;19141079;19035297;19017757;18950315;18949367;18841579;18820707;18638528;18666234;18550537;18543214;18512240;18499164;18494032;18411255;18250096;18093156;17994469;17929277;17925890;17690318;17599367;17287139;17200335;17144664;17108109;16941465;16888648;16698101;16644676;16642472;16626667;16537382;16450370;16402389;16380264;16371654;16369839;16316632;16177983;16007636;15882803;15716245;15489334;15342556;15228595;15221445;15214825;15194490;15048890;14702039;12913066;12784265;12775255;12705903;12539205;12477932;12408865;12210873;12160938;12123845;12032852;11716150;11603807;11535241;11502942;11027850;10454131;10203348;10048490;9790970;9435142;8671330;8471161;6343558;2947814;2163617;1849484;1840236;1286667;16169070;20646535;23499448;23543736;19477270;19488775;19536331;19615732;19683447;19707515;19864305;19945429;19950834;20147297;20231490;20302621;20302855;20381070;20051117;20395212;20160478;20029029;20713032;20104524;20574456;19859801;20524204;20301402;20861575;20980462;20949132;20608941;21251915;21504384;22839974;16027165;17676665;22053931;22626734;22688354;22939629;23061666;2532544;23297343;21315600;21706495;21426768;21878121;21626562;22022780;22001920;17259170;21345711;21693148;22931063;20639865;21999842;22028813;22118674;18635949;20439756;21044950;21428722;21702960;22284438;22503729;20622874;21139048;21890473;21906983;21309726;22038515;23315218;19734545;21565611;22726800;22932395;22660851;23291960;23359680;22849656;22883340;23158209 7345 D6R956;D6R974;D6RE83;D6RF53;D6RJD9;P09936 AB209038;ABBA01014261;AC095043;AK054579;AK315368;AMYH01014132;BC000332;BC005117;BC006305;BC018838;BP202166;CH471069;NG_012931;NM_004181;X04741;X17377 AAH00332;AAH05117;AAH06305;AAY40923;ABM82924;ABM86114;BAD92275;BAG37761;BAG51393;CAA28443;CAA35249;EAW92978;EAW92979;EAW92980;EAW92981;EAW92982;EAW92983;NP_004172;P09936 Hs.518731 2132778;2160459 SHGC-59749;SHGC-67809 PARK5;PGP 9.5;PGP9.5;PGP95;Uch-L1 OTTHUMP00000125219;OTTHUMP00000218137;OTTHUMP00000218139;OTTHUMP00000218140;OTTHUMP00000218141;neuron cytoplasmic protein 9.5;ubiquitin C-terminal hydrolase;ubiquitin carboxy-terminal hydrolase l1;ubiquitin carboxyl-terminal hydrolase isozyme L1;ubiquitin thioesterase L1 APPROVED protein-coding ENSG00000154277 12513 01877 191342;613643 REVIEWED 1350104 UCMA upper zone of growth plate and cartilage matrix associated 10 10 10 p13 13190573 13203144 - 13303773 13316337 - 13263771 13276331 - 737633;6480464 12477932 18156182;17707622;15489334;15164054;18836183 221044 Q8WVF2;R4GMV7 ABBA01034632;AL138764;AMYH01002042;BC018068;CH471072;NM_145314 AAH18068;EAW86296;NP_660357;Q8WVF2 Hs.112998 1696946 RH101945 C10orf49;GRP Gla-rich protein;OTTHUMP00000043627;unique cartilage matrix-associated protein protein-coding ENSG00000165623 25205 12578 PROVISIONAL 731673 UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 13 13 q22.2 75021928 75078070 + 76123616 76180156 + 1580863;6480464 2530630;19343046;19047059;16713569;16402389;15531586;15489334;15057823;14595809;12721789;12477932;10527871;10518943;9790970;9233788;16503656;19154770;19476499;19615732;19636824;17207965;23105109;22939629;21762696;18029348;20622874;21139048;21890473;18781797;20639865;21453705;21900206;22118674;16344560;21235224;22086173;22279964;22284438;22510564;22679485;14673145;22053931;22626734 7347 P15374;Q5TBK7 AA234624;ABBA01021644;ABBA01021645;ABBA01021646;AK313665;AL137244;AMYH01005213;AMYH01005214;BC018125;BQ427804;BT019359;CH471093;CR456855;DA820150;M30496;NM_001270952;NM_006002 AAA36791;AAH18125;AAV38166;ADQ31597;BAG36417;CAG33136;EAW80542;EAW80543;EAW80544;EAW80545;EAW80546;EAW80547;NP_001257881;NP_005993;P15374 Hs.162241 1654664;1724117;1739617;5094989 D13S1208E;RH119058;SHGC-30014;UCHL3 UCH-L3 OTTHUMP00000018509;ubiquitin carboxyl-terminal hydrolase isozyme L3;ubiquitin thioesterase L3;ubiquitin thiolesterase APPROVED protein-coding ENSG00000118939 12515 04367 603090 REVIEWED 1342858 UCKL1 uridine-cytidine kinase 1-like 1 20 20 20 q13.33 59255043 59274434 - 62041630 62058212 - 62571182 62587800 - 1580863;6480464;6907045 12199906;18029348;16964243;15489334;14702039;12477932;11780052;8125298;16709802;19653100;16344560;21906983;22505724 54963 F8WAC3;Q53HM1;Q5JWV1;Q9H3Z3;Q9NWZ5 ABBA01021433;ABBA01021434;AJ605558;AK000524;AK222559;AK223220;AK301602;AK303688;AL118506;AMYH01012095;BC033078;CH471077;DB193745;DC379603;HC893601;HC896352;HC910552;NM_001193379;NM_017859 AAH33078;BAA91230;BAD96279;BAD96940;BAH13521;BAH14018;CAE54074;CBN61246;CBN62589;CBN69596;EAW75185;EAW75186;EAW75187;EAW75188;EAW75189;NP_001180308;NP_060329;Q9NWZ5 Hs.504998 2114012;5491625 AB056405;MARC_26200-26201:1030734098:1 UCK1-LIKE;UCK1L;URKL1 OTTHUMP00000031603;uridine kinase-like 1;uridine-cytidine kinase-like 1 protein-coding ENSG00000198276 15938 15607 610866 VALIDATED 1313432 UCHL5 ubiquitin carboxyl-terminal hydrolase L5 1 1 q32 191251522 191295144 - 192981496 193029237 - 1580863;6480464 11163772;18922472;17139257;16990800;16906146;16710414;16501559;16402389;16027725;14702039;19013454;15489334;12477932;10931946;10810093;8125298;19193609;22284438;21303910;16344560;18029348;17643375;18162577;19615732;19836345;21287580;22863883;22939629;21832049;16196087;17721549;21800051;20471946;20634424;21995438;15840729;18781797;21987572;22118674;12938929;19471022;21139048;21890473;21906983;21963094;21668797;22505724;22626734;23105109;23220010;22615012 51377 B4DW59;B7Z9U9;H0Y4E0;H0Y4K0;H0Y636;H0Y6Y4;Q5LJA5;Q5LJA9;Q5LJB0;Q5LJB1;Q9Y5K5 ABBA01027636;AF147717;AF151828;AF157320;AK024751;AK123655;AK225794;AK296487;AK301381;AK314445;AK316064;AL136370;AMYH01001593;BC015381;BC015521;BC025369;BI548319;BT006790;CH471067;DA255130;NM_001199261;NM_001199262;NM_001199263;NM_015984;NR_037607 AAD31528;AAD34065;AAF67486;AAH15521;AAH25369;AAP35436;ADZ15876;BAG37054;BAG59125;BAG62921;BAH14435;EAW91233;EAW91234;EAW91235;EAW91236;EAW91237;EAW91238;NP_001186190;NP_001186191;NP_001186192;NP_057068;Q9Y5K5 Hs.145469 1665608;1675537;1789010;1854372;2108629 G65637;RH91900;SHGC-76064;UCHL5_8042;WI-14924 CGI-70;INO80R;UCH-L5;UCH37 INO80 complex subunit R;OTTHUMP00000033565;OTTHUMP00000033566;OTTHUMP00000033567;OTTHUMP00000033568;OTTHUMP00000033570;OTTHUMP00000033571;OTTHUMP00000033754;UCH-L5;ubiquitin C-terminal hydrolase UCH37;ubiquitin carboxyl-terminal esterase L5;ubiquitin carboxyl-terminal hydrolase isozyme L5;ubiquitin thioesterase L5 protein-coding ENSG00000116750 19678 10293 610667 VALIDATED 1349219 UCN urocortin This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008] 2 2 p23-p21 27383769 27384634 - 27530265 27531130 - 1580792;1580863;1642796;1642774;1642775;1642781;1642783;1642782;5147387;5508315;5490987;5508188;5490589;6480464 14577573;11087261;17932219;16915033;16427607;15806110;16125201;16484629;19572944;21330446;21362449;19808377 8612563;19086053;18670748;18443956;18329817;18234674;17597629;17154253;16920724;16698078;16675846;16340217;15815621;15784504;15489334;15072543;14764822;14576187;14519439;12535698;12519893;12477932;12175707;12111693;12010647;11836334;11788672;11416224;11329063;11238533;11150640;10690896;10422876;10341863;9628819;9622018;9467598;9423932;9360550;8612576;861256;15924674;19619932;19703147;19949969;19961889;20363214;20368512;20468064;19893766;20670842;21289256;19437022;20480172;21360527;22318606;23128233 7349 P55089 ABBA01045201;AC013413;AF038633;AMYH01010195;BC104470;BC104471;CH471053;CR542244;NG_033055;NM_003353 AAC24204;AAI04471;AAI04472;AAY24297;CAG47040;EAX00605;NP_003344;P55089 Hs.534363 1648785;1664646;1698956;1767837;1798106;2149877;5492767;5493491;5494033 G19419;RH103047;RH70909;RNF30_1941;STS-X76538;UniSTS:480764;UniSTS:482408;UniSTS:486845;WI-18702 MGC129974;MGC129975;UI;UROC OTTHUMP00000122583;prepro-urocortin;urocortin;urocortin, preproprotein APPROVED protein-coding 12516 02970 600945 REVIEWED 1602230 UCK2 uridine-cytidine kinase 2 This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010] 1 1 q23 164063514 164143967 + 165796732 165880855 + 2317214;5133269;6480464;6907045 221781;12149149 16484797;11306702;19064610;17613536;16710414;15489334;15280220;15130468;12876357;12665801;12477932;12199906;11494055;8812458;19483681;19532987;19536175;8889548;22939629;16196087;18781797;20972266;21139048;21890473;21906983;18051367;22053931;22505724 7371 B4DGD3;Q9BZX2 AB062451;ABBA01047272;ABBA01047273;AF236637;AK294537;AK309739;AL358115;AL451074;AMYH01001472;BC002906;BM714864;BT006860;CH471067;CR456857;D78335;DR762696;HC893721;HC896472;HC910672;NM_012474 AAH02906;AAK14053;AAP35506;BAA11349;BAB56162;BAG57744;CAG33138;CBN61306;CBN62649;CBN69656;EAW90767;EAW90768;EAW90769;NP_036606;Q9BZX2 Hs.458360 1339236;1651513;1658504;1663480;1678589;1692410;2129698;2141082;2141084;2164191;5126049 A002B18;AL009583;AL009830;AL033853;D1S1625;G15718;G19886;RH64600;RH79046;RH80936;SHGC-35183 DKFZp686M04245;TSA903;UK;UMPK OTTHUMP00000038005;UCK 2;cytidine monophosphokinase 2;testis-specific protein TSA903;uridine kinase;uridine monophosphate kinase;uridine monophosphokinase 2;uridine-cytidine kinase 2 APPROVED protein-coding 12562 01882 609329 REVIEWED 1348669 UCN2 urocortin 2 This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008] 3 3 p21.3 48574155 48576205 - 48599151 48601201 - 1580863;5147387;5508308;5131259;5508437;5508210;6480464 16484629;16026900;17586086;19204182;12076554 11329063;17074339;16626608;16476507;16223946;15489334;15476935;14592950;14519439;12615952;12477932;11416224;11226328;20616367;20670842;20368512;19417223;21360527;21454316;22000474;23493376;23128233 90226 Q96RP3 ABBA01024644;AC121252;AC134772;AF320560;AMYH01013151;BC002647;BC022096;CH471055;NM_033199 AAH02647;AAH22096;AAK52672;ABM82016;ABM85198;EAW64891;NP_149976;Q96RP3 Hs.631914 1675381;1744059 GDB:384986;RH80100 SRP;UCN-II;UCNI;UR;URP OTTHUMP00000164814;prepro-urocortin 2;stresscopin-related peptide;ucn II;urocortin II;urocortin-2;urocortin-related peptide APPROVED protein-coding ENSG00000145040 18414 16171 605902 REVIEWED 1352070 UCN3 urocortin 3 This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008] 10 10 p15.1 5396976 5406169 + 5406976 5416169 + 1580863;5147387;6480464 16484629 19351656;18504423;17074339;16626608;16095756;15949638;15489334;15476935;15070962;14764822;14519439;12615952;12477932;11416224;11329063;20368512;17207965;20616367;21360527;21454316;22000474;23349753 114131 Q969E3 ABBA01035197;AF361943;AL683826;AMYH01002001;AY026949;BC069530;BC100867;BC100868;BC100869;BC100870;BM310953;BQ776877;BQ778217;NM_053049 AAH69530;AAI00868;AAI00869;AAI00870;AAI00871;AAK11729;AAK67317;ADQ32879;NP_444277;Q969E3 Hs.511775 2220394 UniSTS:481292 MGC119002;SCP;SPC;UCNIII OTTHUMP00000018999;prepro-urocortin 3;stresscopin;ucn III;urocortin III;urocortin-3 2289527 BW436_H APPROVED protein-coding ENSG00000178473 17781 12066 605901 REVIEWED 735821 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008] 4 4 q28-q31 141700500 141709457 - 141481050 141489959 - 1624977;1624979;1624978;1580863;2313631;2313626;2313629;6480464;6907045;7240710;7247625 8968850;16338218;16953057;11317671;17635070;12659879;15120704 21530798;2380264;19420105;19367093;19076691;19056576;18955781;18755175;18720901;18660489;18370824;18305572;18068010;18059082;17516293;17397545;17242157;16896567;16373902;16180337;16132835;16084837;15955458;15865460;15815621;15536594;15489334;15355441;15281018;14671150;12951617;12910269;12756473;12732844;12565902;12477932;12395215;12375583;12119988;12084707;12075579;12032762;12029453;11994670;11780125;11572862;11466580;11439286;10999801;10805511;10772343;10620491;9398715;9119086;7951471;3165741;22764640;19913121;20622171;20628086;20802238;20803423;19474520;19491387;19567523;19578796;19730683;19753844;19806581;19895332;19943796;19948975;19966534;20416077;20468064;20709022;20734064;20877624;23134754;23266187;21355075;21189472;9054939;22260858;21827845;21878665;22075692;21959333;22391136;22277967;23043591;22676960;22750084;23454374 7350 P25874;Q4KMT7 ABBA01069981;AC108019;AMYH01014572;BC069556;BC096736;BC098168;BC098258;BC098352;CH471056;NG_012139;NM_021833;U28480;X51952;X51955 AAA85271;AAH69556;AAH96736;AAH98168;AAH98258;AAH98352;AAY41026;CAA36214;EAX05095;NP_068605;P25874 Hs.249211 1341573;1677889;1744083;1767047;1777640;2181682;5492045;7186805 D4S420;GDB:386145;SHGC-152690;SHGC-50226;SHGC-50806;SHGC4-1035;UCP1 SLC25A7;UCP OTTHUMP00000164611;UCP 1;mitochondrial brown fat uncoupling protein 1;solute carrier family 25 member 7;thermogenin;uncoupling protein 1 1643249;1643293;2289563 BW135_H;BW197_H;BW441_H APPROVED protein-coding 12517 00221 113730;601665 REVIEWED 5687332 UFL1-AS1 UFL1 antisense RNA 1 q16.1 100861530 BM126999;BM127608 Hs.571077 APPROVED miscrna 41007 69170 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008] 11 11 q13 73363364 73371537 - 73685716 73693889 - 1580793;1580794;737760;737759;737761;1580863;1643130;2313516;2313525;2313630;2313528;2313517;2302404;2313512;2313501;6480464;6484113;7175295;7175296;7175297;7175299;7175309;7175312;7175313;7175298;7175300;7204434;7204436;7204431;7204428;7204424;7204423;7204426;7204429;7204435;7240710 15604415;15106800;11440717;11101840;11381268;15910756;16373902;10382588;11587528;19526854;15356383;17704287;17870627;19227473;22848482;21190599;20404217;18242170;22195248;21359922;21272461;19406964;18344121;18543254;12858170;19104935;19772611;20809120;21114362;20193183;19632092;18308829 21175267;9054939;9196039;19420105;19387457;19368944;19336475;19155787;19140314;19137581;19065272;19056576;19056482;19039313;18996102;18977241;18956255;18940651;18924534;18839467;18755175;18720901;18660489;18593920;18426866;18413749;18305572;18301432;18301352;18223008;18192542;18167556;18059082;18031357;18018477;18006489;17985659;17894153;17718790;17701054;17601350;17570749;17555951;17544366;17512314;17502873;17463068;17462780;17397545;17351641;17342078;17316620;17242157;17240372;17170091;17130180;17066476;17052689;16982633;16806233;16741267;16644712;16622580;16567833;16562813;16282353;16167150;16054055;16021520;15985484;15959859;15951317;15905464;15833942;15827742;15634780;15564896;15562023;15527803;15520825;15489334;15475368;15448008;15308133;15220218;15192823;15165610;15149891;15120704;15061987;15045692;15039126;15016641;14974928;14759071;14747301;14730379;14693721;14659466;14627764;12960023;12915397;18496642;18460338;12912909;12855674;12797456;12787871;12746756;12734183;12720538;12716765;12690079;12670931;12477932;12401727;12395215;12385772;12355400;12145158;12075579;12030845;11994670;11935148;11920154;11904148;11780125;11713718;11466580;10785390;10772343;22524567;22634308;10620491;10082652;10027754;9568704;9559644;9180264;9133562;8125298;19913121;20332018;20602615;20628086;20802238;20804304;21254885;18846338;20608355;17666355;19413708;19491387;19527523;19531977;19556617;19578796;19653005;19659999;19680556;19681913;19727213;19753844;19760975;19769793;19833146;19846869;19876004;19889414;19895332;19908126;19946892;19948975;19950601;20056920;20142250;20145583;20359253;20384434;20416077;20468064;23537071;20595066;20538960;20734064;20877624;20937264;21029457;21074158;20427509;22266335;22533685;22568573;22613561;22807616;22847181;23033381;21128330;22490607;21666788;23088537;23365654;23147265;23314523;23639961;22733179;21266666;21557918;21584501;21613221;21751002;21873561;21374988;22085932;21935467;22001364;22134120;23088859;22241057;21720911;21883184;21340542;22070905;22292025;22318606;23266187;22995745;20813684;23434936;23068098;23069211 7351 F5GX45;F5H312;H0YFQ0;H0YFR8;P55851 ABBA01017499;AF019409;AF096289;AF132536;AJ223477;AJ223479;AK025742;AK222540;AK222557;AMYH01003812;AP003717;BC011737;CH471076;DQ087219;NG_011478;NM_003355;U76367;U82819 AAB48411;AAC39690;AAC51336;AAD21151;AAH11737;AAY68217;ABM84224;ABM87735;BAD96260;BAD96277;CAA11402;EAW74923;EAW74924;NP_003346;P55851 Hs.80658 1298235;1298267;1794058;1794060;2113978;2140211 D11S1998;D11S4464;PMC310777P17;PMC310777P18;UCP2;WI-13873 BMIQ4;SLC25A8;UCPH OTTHUMP00000237900;OTTHUMP00000237901;UCP 2;mitochondrial uncoupling protein 2;solute carrier family 25 member 8;uncoupling protein 2 1643371;2289505;2289508 BW329_H;BW447_H;BW452_H APPROVED protein-coding 12518 03410 601693;607447 REVIEWED 1350578 UFS urofacial syndrome 7240710 9199567 7354 12521 236730 733835 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008] 11 11 q13.4 73388985 73397778 - 73711326 73720282 - 1580795;737762;1331525;1625189;1580863;1643130;737802;2313502;2313515;2313522;2313523;2313524;2313630;2313513;2313514;2313517;2313528;2313516;2302404;2313506;2313511;2313512;2313518;2313520;2313521;2313535;2313519;2313526;2313629;6480464;7240710;7204424 10994754;10935638;15118671;9769326;15910756;10748195;18678617;17571165;11484089;11126413;10868941;11587528;17786284;17587402;15356383;19526854;16373902;17704287;18249216;18223008;17870627;14673524;12079841;11723073;17012607;12145158;9700198;12659879;20809120 9196039;9180264;19369366;19336475;19155787;19073146;19056576;19056482;19039313;18996102;18956255;18924534;18825612;18755175;18676680;18660489;18648851;18484143;18426866;18426825;18348082;18305572;18191161;18167556;18059082;17786291;17728536;17676309;17544366;17512314;17502873;17351641;17150099;16966355;16752430;16741147;16644712;16631432;16622580;16352674;16344560;16337086;16215931;16178820;16046300;16006788;15978856;15959859;15870396;15564896;15520825;15496137;15489334;15346230;15211595;15120704;15045692;14708035;14702039;14671191;12843208;12824081;12756473;12734183;12720538;12670931;12634927;12612210;12477932;12395215;12351640;12217879;12170470;12145475;12075570;12051710;11994670;11920154;11875702;11842047;11683368;11319649;11238538;11151767;10958796;10785390;10772343;10748196;10620491;10329378;9498661;9480760;9325252;9305858;19913121;20628086;20679960;20694293;20802238;19170196;19413708;19468707;19491387;19578796;19625176;19653005;19680556;19692168;19710539;19753844;19769793;19876004;19913848;19948975;20031128;20186155;20416077;20468064;20538960;20734064;20877624;21074158;21047682;21897112;21175267;21336965;21613221;21751002;23639961;21775425;22241057;22774401;21544083;22811361;23266187;23365654 7352 C9JJ98;F5H3N5;P55916 ABBA01017497;AF001787;AF011449;AF012202;AF026958;AF032871;AF050113;AF127916;AK092685;AK290630;AK291889;AK309873;AMYH01003812;AP003717;AW295096;BC008392;BU618868;CH471076;DA876282;NG_011515;NM_003356;NM_022803;U82818;U84763 AAC18822;AAC51356;AAC51367;AAC51369;AAC51767;AAC51785;AAG02284;AAH08392;BAF83319;BAF84578;BAG52595;EAW74925;EAW74926;EAW74927;NP_003347;NP_073714;P55916 Hs.101337;Hs.621879 1667390;1852873;2153053;2165526;5022704 D11S2233E;D11S2239E;D11S2240E;RH65723;UCP3 SLC25A9 OTTHUMP00000237951;OTTHUMP00000237952;UCP 3;Uncoupling protein-3;mitochondrial uncoupling protein 3;solute carrier family 25 member 9;uncoupling protein 3 1643371;2289505;2289508 BW329_H;BW447_H;BW452_H APPROVED protein-coding ENSG00000175564 12519 03623 601665;602044 REVIEWED 1604819 UFC1 ubiquitin-fold modifier conjugating enzyme 1 UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008] 1 1 1 q23.3 134190687 134195799 + 159390158 159395270 + 161123534 161128646 + 6480464 17353931;19101823;15489334;15071506;12477932;11042152;10810093;8889548;20562859;22939629;20164180;21139048;21890473 51506 Q9Y3C8 AB154405;ABBA01016596;AF151884;AF161504;AK292776;AL590714;AMYH01001457;BC005187;CF128121;CH471121;NM_016406 AAD34121;AAF29119;AAH05187;ABM84087;ABM87456;BAD15374;BAF85465;EAW52646;EAW52647;NP_057490;Q9Y3C8 Hs.301412 1683098;2174574;2174576;2175448 A002D06;D1S3338;G19947;RH75 HSPC155 OTTHUMP00000031885;Ufm1-conjugating enzyme 1;ubiquitin-fold modifier-conjugating enzyme 1 APPROVED protein-coding ENSG00000143222 26941 15643 610554 VALIDATED 1605360 UEVLD UEV and lactate/malate dehyrogenase domains 11 11 11 p15.1 18688875 18745155 - 18509820 18566857 - 18552950 18610293 - 6480464 15489334;14702039;12477932;12427560;8889549;19549727;21139048;21890473;21906983;8889548 55293 A8MYV4;B4DIA9;Q8IX04 AA160640;ABBA01061051;ABBA01061052;ABBA01061053;AC027544;AC112694;AF503350;AK001930;AK295501;AK296835;AK301537;AK314521;AK316191;AL134932;AMYH01003428;BC011011;BC064566;BM994955;BU633352;CB991602;CD109744;CD369413;CF138618;CH471064;NM_001040697;NM_001261382;NM_001261383;NM_001261384;NM_001261385;NM_001261386;NM_018314 AAH11011;AAH64566;AAN32950;BAA91985;BAG37116;BAG58421;BAG59405;BAG63036;BAH14562;EAW68376;EAW68377;EAW68378;EAW68379;EAW68380;NP_001035787;NP_001248311;NP_001248312;NP_001248313;NP_001248314;NP_001248315;NP_060784;Q8IX04 Hs.407991 1340928;1664723;1759469;2125242;5015961;5017625;5109663;7185203 D11S4096;D11S955E;D15S1477;D7S2067E;SHGC-151201;STS-M78353;UEVLD ATTP;FLJ11068;UEV3 EV and lactate/malate dehydrogenase domain-containing protein;OTTHUMP00000236663;OTTHUMP00000236664;OTTHUMP00000236665;OTTHUMP00000236666;OTTHUMP00000236667;OTTHUMP00000236669;UEV-3;signaling molecule ATTP;ubiquitin-conjugating enzyme E2 variant 3;ubiquitin-conjugating enzyme E2-like protein-coding ENSG00000151116 30866 15608 610985 VALIDATED 1319587 UFL1 UFM1-specific ligase 1 6 6 6 q16.1 97611468 97644919 + 97076438 97109873 + 96969702 97003152 + 6480464 17353931;17081983;15489334;15342556;15302935;14574404;12477932;9872452;20018847;20228063;18029348;20531390;20164180;21139048;21890473 23376 O94874 AB018319;ABBA01014524;ABBA01014525;AJ420579;AK295934;AK307651;AK316453;AL132776;AL590404;AMYH01016528;BC015377;BC028608;BC036379;BP337693;CH471051;NM_015323 AAH15377;AAH28608;AAH36379;BAA34496;BAG58719;BAH14824;EAW48506;EAW48507;EAW48508;NP_056138;O94874 Hs.149367 2127731;2170916;5016801;5110728 RH70749;RH78851;RH98509;SHGC-36141 KIAA0776;Maxer;NLBP;RCAD;RP3-393D12.1 E3 UFM1-protein ligase 1;LZAP-binding protein;OTTHUMP00000016878;Regulator of CDK5RAP3 and DDRGK1;novel LZAP-binding protein APPROVED protein-coding ENSG00000014123 23039 11109 613372 VALIDATED 6483987 UGDH-AS1 UGDH antisense RNA 1 4 p 39529459 39596327 + 14702039;16344560 100885776 ABBA01004126;ABBA01004127;AC021148;AC105427;AK056558;AMYH01014119;DA042578;NR_047679 Hs.640769 5015615;5019072;5020423;5118342 D11S1053;D11S3076;D11S3206;G44369 FLJ31996 APPROVED miscrna ENSG00000249348 40601 VALIDATED 732948 UFD1L ubiquitin fusion degradation 1 like (yeast) The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009] 22 22 q11.21 17817701 17846726 - 19437464 19466738 - 1580803;1580804;1358598;1580863;6480464;6907045 10024240;11485030;11496370 17681147;9063746;18586029;18270977;17331469;16381901;16341674;15489336;15489334;15461802;12910480;12477932;11979512;11574150;11076863;15371428;16234241;19275885;20414249;20876349;21914798;22232657;9540831;8125298;18544348;15215856;20634891;16525503;17872946;18199748;19615732;20471029;16712791;20702414;16322459;23293021;23314748;21571647;20442859;22053931;22505724;22863883;22939629;23042607;21486945;16822850;21139048;21890473;21906983;18624398;18775313;18781797;19818707;21900206;21987572;17502376;21963094;22763378;23000965 7353 A6NJ11;C9IZG3;C9J6N9;C9J7C8;C9JNP9;Q541A5;Q92890 ABBA01005411;AC000068;AC000087;AF141201;AJ239058;AK128120;AK225877;AK304734;AK308786;AK310950;AK315998;AMYH01012479;AW131352;AY101594;BC001049;BC005087;BM761958;BX648374;BX648483;CB128364;CH471176;CR456607;DB496066;DB570679;NM_001035247;NM_005659;U64444 AAD08720;AAD28788;AAH01049;AAH05087;AAM48288;BAG65495;BAH14369;CAC20414;CAG30493;CAK54634;CAK54933;CAL37746;EAX03037;EAX03038;NP_001030324;NP_005650;Q92890 Hs.474213 1687133;1851500;2112440;2112446;5015861;5016781;5024605;5037552;7185938 D10S16;D18S1297;D22S1632;D22S1634;D8S2279;RH18339;RH75489;SHGC-67307 UFD1 OTTHUMP00000196377;OTTHUMP00000196400;OTTHUMP00000208104;OTTHUMP00000208105;UB fusion protein 1;ubiquitin fusion degradation 1-like;ubiquitin fusion degradation protein 1 homolog APPROVED protein-coding ENSG00000070010 12520 06778 601754 REVIEWED 1344837 UFM1 ubiquitin-fold modifier 1 UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008] 13 13 13 q13.3 19977744 19990945 + 37822018 37835140 + 38923942 38937143 + 6480464 17353931;16527251;15489334;15146197;15071506;15057823;14702039;12477932;11483580;11042152;8889548;19690564;20562859;20018847;22863883;22939629;21304510;21900206;21139048;21890473;19322201 51569 H0Y614;P61960 AB154404;ABBA01021324;AF208844;AF305827;AF369953;AK095490;AK307111;AK309914;AL356863;AL515797;AMYH01005044;BC005193;BI458294;BM683574;BQ002588;BU069122;CB070175;CH471075;CN362375;CR457189;NM_016617;Z70222 AAF64258;AAH05193;AAK55530;ADZ15666;BAD15373;CAA94181;CAG33470;EAX08605;NP_057701;P61960 Hs.643655 1682780;2119924;2123738 NIB712;RH26802;STS-Z70222 BM-002;C13orf20;bA131P10.1 OTTHUMP00000018797;OTTHUMP00000018801;ubiquitin-fold modifier 1 APPROVED protein-coding ENSG00000120686 20597 15644 610553 VALIDATED 1349115 UGP1 UDP-glucose pyrophosphorylase 1 7359 12526 1604425 UFSP1 UFM1-specific peptidase 1 (non-functional) This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009] 7 7 7 q22.1 95216925 95217920 - 100324280 100325275 - 100486344 100487339 - 6480464 18321862;17182609;16344560;15489334;12690205;12477932;11239002;20639392;22990020 402682 Q6NVU6 ABBA01013176;AC011895;AF312032;AK292467;AMYH01017746;BC017456;BC067904;CH236956;DB073745;NG_007474;NM_001015072 AAH67904;AAK21004;BAF85156;EAL23814;NP_001015072;Q6NVU6 Hs.534845 1667972;1769989;2157266 GDB:4585547;RH17909;STS-M55040 UFSP OTTHUMP00000216135;inactive Ufm1-specific protease 1 APPROVED protein-coding ENSG00000176125 33821 18630 611481 VALIDATED 1349188 UGCG UDP-glucose ceramide glucosyltransferase Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are present in essentially all animal cells and are believed to have important roles in various cellular processes. UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely expressed and transcription is upregulated during keratinocyte differentiation. [provided by RefSeq, Oct 2009] 9 9 q31 113699027 113735260 + 114659206 114695439 + 1580863;6480464;6907045 8643456;9545298;18560890;18155680;17709137;16500619;15747776;15661399;15489334;15263008;14766899;12873973;12489486;12477932;11915344;11335714;10945987;9605861;8901638;1533793;21278235;20533270;19693666;20540746;21558327;21756066;21380926;22270805;21617856;20843709;21832049;22936806;21890473;23133636 7357 Q16739 ABBA01042720;AJ420423;AK314847;AL442066;AMYH01021644;BC038711;CH471105;D50840;NM_003358 AAH38711;ADZ15740;BAA09451;BAG37364;EAW59091;EAW59092;NP_003349;Q16739 Hs.304249;Hs.593014 1661341;1700244;2163610 RH103739;RH11495;RH68280 GCS;GLCT1 GLCT-1;OTTHUMP00000021925;UDP-glucose:N-acylsphingosine D-glucosyltransferase;ceramide glucosyltransferase;glucosylceramide synthase APPROVED protein-coding 12524 04190 602874 REVIEWED 1605068 UFSP2 UFM1-specific peptidase 2 Like ubiquitin (see MIM 191339), ubiquitin-fold modifier-1 (UFM1; MIM 610553) must be processed by a protease before it can conjugate with its target proteins. UFSP2 is a thiol protease that specifically processes the C terminus of UFM1 (Kang et al., 2007 [PubMed 17182609]).[supplied by OMIM, Oct 2009] 4 4 4 q35.1 183646881 183673344 - 186558437 186584062 - 186320694 186347139 - 6480464 17182609;16344560;15489334;15342556;14702039;12477932;12358155;10737800;22990118;21906983 55325 B3KRI4;D6R9J7;D6RA67;D6RB53;D6RGX2;H0Y9B0;H0YA18;Q9NUQ7 ABBA01070532;AC106897;AK002062;AK091635;AMYH01014774;BC010493;BF735169;BP264462;CA432183;CH471056;CR457278;DA537391;NM_018359;NR_028085 AAH10493;BAA92064;BAG52396;CAG33559;EAX04645;EAX04646;NP_060829;Q9NUQ7 Hs.713548 1649687;1651574;1666840;2128602;2140739;2154509 RH16586;SHGC-25085;SHGC-33599;SHGC-67400;SHGC-68105;WI-14754 C4orf20;FLJ11200 OTTHUMP00000218200;OTTHUMP00000218202;OTTHUMP00000218203;ufm1-specific protease 2 APPROVED protein-coding 25640 07741 611482 VALIDATED 1344583 UGT1A11P UDP glucuronosyltransferase 1 family, polypeptide A11 pseudogene 2 2 2 q37 228232814 228233659 + 234176938 234177783 + 234512199 234513040 + 10836148;16141793;9295054;20041166;17475008 54574 ABBA01001949;AC019072;AMYH01011579;NG_002601;U39551 1803214;1807384;1819346;1820078;1951396;1951398;1951400;1951402;1951404;1951406;1951408;1951410;1951412;1951414;1951416;1951418;1951534;2201222 ECD02499;ECD04663;ECD10740;ECD11112;REN46553;REN46554;REN46555;REN46556;REN46557;REN46558;REN46559;REN46560;REN46561;REN46562;REN46563;REN46564;REN46623;stSG620053 UGT1K pseudo ENSG00000227846 12532 VALIDATED 1348544 UGT1A12P UDP glucuronosyltransferase 1 family, polypeptide A12 pseudogene 2 2 2 q37 228214700 228215552 + 234158824 234159676 + 234494085 234494937 + 17952380;16141793;10836148;9295054;20041166 54573 ABBA01001949;AC019072;AMYH01011579;NG_002601;U39552 1813412;1813898;1814716;1951106;1951108;1951110;1951530;1951532;1951534;1951536;1951538;1951540;1951542;1951544;1951546;1951548;1951550;1951552;2201198;2201200 ECD07727;ECD07976;ECD08389;REN46405;REN46406;REN46407;REN46621;REN46622;REN46623;REN46624;REN46625;REN46626;REN46627;REN46628;REN46629;REN46630;REN46631;REN46632;stSG620041;stSG620042 UGT1L pseudo ENSG00000228949 12533 VALIDATED 1603459 UGT1A13P UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene 2 2 2 q37 228277195 228278291 + 234221314 234222411 + 234556575 234557672 + 11434514;10836148 404204 ABBA01001949;AC019072;AF297093;AMYH01011579;NG_002601 1824440;1826806;1951104;1951106;1951108;1951110;1951112;1951114;1951116;1951118;1951120;1951122;1951536;2201246 ECD13318;ECD14518;REN46404;REN46405;REN46406;REN46407;REN46408;REN46409;REN46410;REN46411;REN46412;REN46413;REN46624;stSG620067 pseudo ENSG00000234143 32191 VALIDATED 1347706 UGT1A2P UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene 2 2 2 q37 228376373 228377805 + 234320493 234321925 + 234655785 234657186 + 16141793;10836148;9295054;1339448;17475008;11434514;19898482 54580 ABBA01001950;AC114812;AMYH01011580;M84126;NG_002601 1800878;1802814;1802970;1810944;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950630;2201358;2201360;2201362;2201374 ECD01304;ECD02295;ECD02375;ECD06470;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46167;stSG620125;stSG620126;stSG620127;stSG620133 UGT1BP pseudo ENSG00000228445 12534 VALIDATED 1351683 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] 13 13 13 q32.1 77301630 77553211 - 95251835 95503638 - 96453834 96705736 - 1580863;6480464;6907045 14702039;12913004;12477932;11991713;11278576;10694380;19615732;19851296;20198315;20379614;18303019;23097496;21832049 55757 A6NP03;E7EMU6;Q05D90;Q8N5K0;Q9NYU1 ABBA01027174;ABBA01027175;ABBA01027176;AF227906;AF339770;AK001735;AK021547;AL133051;AL136104;AL158192;AL162500;AL607038;AMYH01005307;AMYH01005308;AMYH01005309;BC017759;BC032302;BC067807;BC111021;BC125233;BC125234;CH471085;NM_020121 AAF66233;AAH17759;AAH32302;AAH67807;AAI11022;AAI25234;AAI25235;BAA91869;CAB61378;EAX08960;NP_064506;Q9NYU1 Hs.193226;Hs.656444 2159574;2166217;2183957 D13S1204;RH69766;STS-AA007696 FLJ10873;FLJ11485;HUGT2;MGC117360;MGC150689;MGC87276;UGCGL2;UGT2 OTTHUMP00000018568;UDP--Glc:glycoprotein glucosyltransferase 2;UDP-Glc:glycoprotein glucosyltransferase 2;UDP-glucose ceramide glucosyltransferase-like 1;UDP-glucose ceramide glucosyltransferase-like 2;UDP-glucose:glycoprotein glucosyltransferase 2 APPROVED protein-coding ENSG00000102595 15664 12065 605898 VALIDATED 1352957 UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008] 2 2 q37 234302512 234346684 + 234637773 234681945 + 1580863;2316977;5129558;6480464;6907045 17353665;19250197 10836148;9295054;19303655;19204906;18677463;18161889;17558304;16738032;15057901;15047194;14986168;14672974;14570768;12639971;11465080;11434514;11179460;11179432;9616184;9535849;9271343;9230212;8780690;1503396;1339448;12695355;10748067;19414484;19419973;19889628;19891553;19898482;19956635;20142249;20189675;18052087;19913121;20628086;21646302;21822266;21886157;22085899;22511988;22558097;23281178;23371916 54659 P35503;Q5DT01 AB120359;AB120360;AB120361;AB120362;ABBA01001950;AC006985;AC114812;AF297093;AF465192;AF465193;AF465194;AMYH01011580;AY435138;CH471063;M84127;NG_002601;NM_019093 AAA92020;AAG30423;AAI66641;AAL73500;AAL73501;AAL73502;AAR95639;BAD12517;BAD12518;BAD12519;BAD12520;EAW71060;NP_061966;P35503 Hs.554822 1659705;1744505;1800110;1800878;1802266;1802632;1802814;1802970;1803414;1803720;1804900;1805190;1806278;1807916;1809098;1809344;1809430;1810944;1813554;1815498;1816240;1816652;1818102;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829248;1834124;1834178;1834370;1834754;1836020;1843664;1844606;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950630;2107751;2110791;2150795;2185258;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5037277 D2S2843;ECD00911;ECD01304;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD03385;ECD03538;ECD04094;ECD04933;ECD05537;ECD05663;ECD05707;ECD06470;ECD07800;ECD08785;ECD09161;ECD09369;ECD10107;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD19171;ECD23043;ECD23517;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46113;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46167;RH48302;RH68970;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-3;UGT-1C;UGT1-03;UGT1.3;UGT1C OTTHUMP00000065193;OTTHUMP00000065199;UDP glucuronosyltransferase 1A3;UDP-glucuronosyltransferase 1-3;UDP-glucuronosyltransferase 1-C;UDP-glucuronosyltransferase 1A3;UDPGT;UGT-1C;UGT1*3;UGT1-03;UGT1.3 APPROVED protein-coding ENSG00000243135 12535 07566 606428 REVIEWED 1346830 UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008] 2 2 2 q37 228342257 228402577 + 234286377 234346684 + 234621638 234681945 + 1580863;6480464;6907045 18223459;14672974;11465080;11434514;10836148;9295054;8467709;1339448;19414484;19419973;19898482;19913121;20628086;21646302;21886157;22085899;22511988;22558097;23281178;23371916 54579 P35504;Q5DSZ9 ABBA01001949;ABBA01001950;AC006985;AC114812;AF297093;AF404263;AF404264;AF404265;AF404266;AF404267;AF404268;AF404269;AMYH01011579;AMYH01011580;AY435140;CH471063;DQ383514;M84129;NG_002601;NM_019078 AAA61250;AAG30421;AAI41471;AAQ03151;AAQ03152;AAQ03153;AAQ03154;AAQ03155;AAQ03156;AAQ03157;AAR95641;ABD42927;EAW71059;NP_061951;P35504 Hs.554822 1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805676;1806278;1807176;1807916;1809098;1809344;1809430;1810944;1813554;1815498;1816240;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829248;1834124;1834178;1834370;1834754;1836020;1837528;1843664;1844606;1845350;1845792;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;2107751;2110791;2150795;2185258;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396 D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03788;ECD04094;ECD04554;ECD04933;ECD05537;ECD05663;ECD05707;ECD06470;ECD07800;ECD08785;ECD09161;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD19171;ECD19931;ECD23043;ECD23517;ECD23892;ECD24115;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-5;UGT1E OTTHUMP00000065195;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A5;UDP-glucuronosyltransferase 1 family polypeptide A5s;UDP-glucuronosyltransferase 1-5;UDP-glucuronosyltransferase 1-E;UDP-glucuronosyltransferase 1A5;UGT-1E;UGT1*5 APPROVED protein-coding ENSG00000240224 12537 07335 606430 REVIEWED 734073 UGDH UDP-glucose 6-dehydrogenase The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] 4 4 p15.1 39176770 39205606 - 39500375 39529218 - 1334484;1580863;1300048;6480464;6907045 9737970 17927902;17209547;17073734;16495656;16021519;16002992;15898741;15489334;15247292;15146197;15044486;14702039;12682078;12477932;10973831;10575217;9850599;16169070;20691680;11329013;16344560;17482904;18717819;19358821;19676054;20421487;16335966;20811636;21595445;22815472;22863883;22939629;21502315;21576248;19343720;21961565;21984906;21987572;22123821;19322201;21139048;21906983;19805454;21988832;23000965;23363239 7358 D6RHF4;E7ER83;E7ER95;E7ETF4;E7EV97;E9PBD2;O60701 ABBA01004126;AC021148;AF049126;AF061016;AJ007702;AJ272152;AJ272274;AJ276162;AJ276163;AJ276164;AK097930;AK297737;AL699883;AL708740;AMYH01014119;AU131705;BC013430;BC022781;BG194936;CH471069;CN405740;NM_001184700;NM_001184701;NM_003359 AAC05135;AAC36095;AAH22781;ABM82042;ABM85221;BAG53554;BAG60087;CAA07609;CAB75402;CAB75891;CAB98177;CAB98178;CAB98179;EAW92936;EAW92937;EAW92938;NP_001171629;NP_001171630;NP_003350;O60701 Hs.572518 2164762;2181059;5037552;5093614 A009S37;D8S2279;G32822;SHGC-67600 GDH;UDP-GlcDH;UDPGDH;UGD OTTHUMP00000125211;OTTHUMP00000218416;OTTHUMP00000218417;OTTHUMP00000218419;UDP-Glc dehydrogenase;UDP-glucose 6-dehydrogenase;UDP-glucose dehydrogenase;udp-glucose dehydrogeanse;uridine diphospho-glucose dehydrogenase APPROVED protein-coding ENSG00000109814 12525 04535 603370 REVIEWED 1350018 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008] 2 2 q37 234333658 234346684 + 234668919 234681945 + 1600438;1600445;1600450;1580863;2315450;2301047;2315451;2315449;2316977;5129558;6480464;6482854;6482855;6482851;6482853;6482852;6482856;6482850;6907361;6907045;7240710 9497253;14620509;9841869;18349273;16637266;15254716;19299905;17353665;19250197;21993917;16609363;22094718;10498597;16339353;16019265;22398043;22170007 19349543;19349540;19343046;19336732;19325249;19309288;19303655;19279563;19268007;19243019;19238116;19217809;19207584;19204906;19141701;19077918;19021734;19019335;18992148;18990750;18982743;18981166;18953066;18832463;18818748;18797458;18790042;18781851;18768784;18756540;18685565;18675828;18597651;18594531;18558634;18547414;18509181;18498916;18491077;18454993;18430559;18419642;18392554;18379174;18375480;1339448;1898728;8780690;19639031;19620808;19546880;19527514;19513514;19486253;19482841;19430380;19424794;19419973;19414484;19406951;19397531;19390945;19371317;19364970;19356098;19352303;18349289;18343383;18335219;18324905;18300238;18240903;18223459;18221820;18181169;18172616;18161889;18082937;18081723;18052087;18043502;18004206;17990575;17981384;17978490;17952380;17949292;17909964;17898154;17888052;17850628;17762398;17728214;17700594;17681105;17627617;17622938;17611564;17593033;17578897;17577039;17576806;17558305;17555467;17549067;17530442;17510208;17506482;17498780;17478602;17471158;17459361;17440429;17426648;22325916;22318545;17409981;17406868;17374650;17372243;17329852;17273745;17259171;17229650;17196409;17192505;17187418;17185998;17166930;17138857;17060921;17000907;16985250;16969497;16965601;16951398;16909274;16896007;16871576;16865249;16864595;16849011;16809730;16792515;16791115;16771603;16735790;16712705;16636344;16610035;16557566;16513443;16469709;16456808;16424820;16399345;16280036;16257926;16257834;16237771;16210851;16171463;16135700;16004608;15931768;15929176;15867280;15864130;15864125;15864124;15857854;15855726;15815621;15771689;15746053;15712364;15710570;15709212;15684703;15586176;15572581;15560369;15557560;15523087;15519273;15491385;15472229;15455371;15388579;15320866;15319464;15319294;15318931;15304120;15297419;15286088;15280927;15247627;15180166;15179405;15111762;15049432;15007088;14871858;14672974;14647407;14616765;14586211;14555305;14550264;12972027;12969965;12960109;12850492;12850481;12800608;12743455;12732844;12732365;12680285;12677174;12646172;12602902;12566446;12502904;12499798;12480568;12480553;12439228;12402338;12357057;12185559;12151360;12139570;12105841;12078936;12036456;11987245;11968090;11915038;11906189;11878580;11857560;11855932;11827650;11764096;11465080;11434514;11401924;11370628;11179460;11156391;11141380;11061796;11013440;10946897;10836148;10748067;10706110;10412811;9639672;9627603;9621515;9535849;9375768;9295054;9039987;8706880;8528206;8514037;8467709;8280139;8276413;8226884;8027054;7989595;7989045;7936809;7906695;7715297;7565971;3141926;3082969;2108603;1634606;1634050;12925779;12695355;22212955;22808571;21275655;23290513;21319362;21473286;20650040;21351260;20483464;20643254;20197307;20546738;12909459;20529348;12477932;16255851;19389676;19450125;19636001;19674361;19683255;19712005;19732760;19771428;19797611;19830808;19858149;19858398;19859999;19861894;19888426;19891553;19898482;19932091;19948621;19996319;20028383;20038727;20057336;20061399;20063115;20064729;20070246;20087647;20096102;20136364;20142249;20173083;20177420;20207827;20214802;20215562;20216541;20235787;20308029;20335017;20358470;20376058;20377135;20378551;20381444;20385995;20389299;20402064;20430047;20504240;20528217;20528568;22367021;22450351;22537951;18695635;19913121;20297805;20485444;20530282;20562211;20562445;20580994;20620155;20628086;20628391;20639394;20647221;20653675;20679960;20686835;20709051;20140262;20600030;20734064;20823282;20837016;20860988;20865252;20890421;20948202;20975617;21072184;21080475;20648548;20371435;22475179;21614935;21646302;21150467;21317830;22273851;23053265;21411679;21092520;21272068;21513526;23207817;21266593;22199302;21983082;22213983;22214020;22299209;21771722;23303296;21911884;21342357;22169899;21978357;23386248;21760472;22676194;22749334;22307138;22448797;21886157;22085899;22340355;22357454;22511988;22558097;22559977;22050734;22829544;22371261;21988832;23461146;9472029;23148825;23281178;23371916;22648071;23148286;23350445;23147267;22661630;23130636 54658 A6NJC3;P22309;Q5DT03 ABBA01001950;AC006985;AF110194;AF180372;AF297093;AF352795;AF357220;AK290834;AMYH01011580;AY435136;AY603772;BC128414;BC128415;CH471063;D87674;DQ364247;DQ374395;JQ686667;JQ699637;JQ699638;JQ699639;JQ699640;JQ699641;JQ699642;JQ699643;JQ699644;JQ699645;JQ699646;JQ699647;JQ699649;JQ699650;M57899;M84125;NG_002601;NG_033238;NM_000463 AAA61248;AAA63195;AAF01205;AAG30424;AAG43197;AAI28415;AAI28416;AAK27223;AAK31204;AAR95637;AAS99732;ABC88474;ABC96771;AFH35129;AFN10613;AFN10614;AFN10615;AFN10616;AFN10617;AFN10618;AFN10619;AFN10620;AFN10621;AFN10622;AFN10623;AFN10624;AFN10625;BAA25600;BAF83523;EAW71053;NP_000454;P22309 Hs.554822 1659705;1744505;1804900;1805190;1809098;1809344;1816240;1816652;1818102;1824666;1826992;1834124;1834178;1834370;1836020;1843664;1844606;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;2107751;2110791;2150795;2185258;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201392;2201394;2201396;5017184 AFMa057vb1;D2S2843;ECD03385;ECD03538;ECD05537;ECD05663;ECD09161;ECD09369;ECD10107;ECD13431;ECD14611;ECD18210;ECD18237;ECD18333;ECD19171;ECD23043;ECD23517;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;RH48302;RH68970;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620144;stSG620145;stSG620146 BILIQTL1;GNT1;HUG-BR1;UDPGT;UDPGT 1-1;UGT1;UGT1A OTTHUMP00000065192;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A1;UDP-glucuronosyltransferase 1-1;UDP-glucuronosyltransferase 1-A;UDP-glucuronosyltransferase 1A1;UGT-1A;UGT1*1;UGT1-01;UGT1.1;bilirubin UDP-glucuronosyltransferase 1-1;bilirubin UDP-glucuronosyltransferase isozyme 1;bilirubin-specific UDPGT isozyme 1 APPROVED protein-coding ENSG00000241635 12530 08933 143500;191740;218800;237900;601816;606785 REVIEWED 1343925 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] 2 2 2 q14.3 122144568 122259888 + 128565255 128665465 + 128848754 128953251 + 1580863;6480464;6907045 15489334;10694380;16344560;21145461;15342556;14702039;12913004;12682060;12477932;11278576;17353931;20498017;19466607;18303019;22863883;22939629;22990118;21903422;21139048;21890473;22586326;22190034;22337587 56886 E2QRN8;F8WCE6;F8WCI2;H7BZG0;Q9NYU2 ABBA01040177;ABBA01040178;ABBA01040179;ABBA01040180;ABBA01040181;AC017079;AC108059;AF227905;AK023240;AK023671;AK074251;AK074376;AK293066;AK309101;AMYH01011028;BC041098;BC047727;BP356698;CH471103;DB226703;NM_020120;NR_027671 AAF66232;AAH41098;AAY14735;AAY14885;BAB14632;BAF85755;EAW95356;NP_064505;Q9NYU2 Hs.743306 1650997;1680174;1700102;1708338;1721023;1721541;1779086;1851121;1852253;2122764;2134902;2177025;5014023;5015619;5015861;5016478;5016596;5020946;5020948;5022450;5022578;5022651;5037552;5109281;5124424;5492001;7185938 D10S16;D10S275;D11S2921;D11S3114;D13S1553;D1S1423;D1S1425;D2S1298;D2S1814;D2S2609;D8S2279;G35510;G59493;G59775;GDB:434012;GDB:631802;L17971;RH103664;RH48723;RH92594;RH92738;SHGC-16167;SHGC-81099;UGCGL1;WI-12634;WI-18004 FLJ21763;FLJ23671;FLJ23796;HUGT1;UGCGL1;UGT1 OTTHUMP00000162311;UDP--Glc:glycoprotein glucosyltransferase;UDP-glucose ceramide glucosyltransferase-like 1;UDP-glucose:glycoprotein glucosyltransferase 1 APPROVED protein-coding ENSG00000136731 15663 12064 605897 VALIDATED 1342708 UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. [provided by RefSeq, Jul 2008] 2 2 q37 234191030 234346684 + 234526291 234681945 + 1580863;5129558;6480464;6907045 19250197 17339869;19244109;19225446;18946804;18568343;18454993;18052087;17603215;16397224;15319294;15247627;15057901;14672974;12920167;12847094;12639971;12433820;12042666;11901093;11465080;11434514;11179460;10836148;10497143;9705221;9647757;9535849;9295054;8467709;1339448;12695355;20972438;19996319;18695635;20732626;19913121;20297805;20565459;20628086;19414484;19419973;19898482;20147615;20379614;20453000;21646302;23700788;21886157;22085899;22511988;22367021;22558097;23281178;23371916 54576 Q5DSZ6;Q9HAW9 ABBA01001949;ABBA01001950;AC006985;AC019072;AC114812;AF030310;AF297093;AF462267;AF462268;AF465198;AF465199;AF465200;AK313488;AMYH01011579;AMYH01011580;AY435143;CH471063;DQ364251;NG_002601;NM_019076;U42604 AAA86625;AAB84259;AAF03522;AAG30416;AAI56849;AAL73506;AAL73507;AAL73508;AAL75963;AAL75964;AAR95644;AAY24023;ABC96775;BAG36270;EAW71057;NP_061949;Q9HAW9 Hs.554822 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N46417;REN46418;REN46419;REN46420;REN46421;REN46422;REN46423;REN46424;REN46425;REN46426;REN46427;REN46428;REN46430;REN46431;REN46432;REN46433;REN46434;REN46435;REN46436;REN46437;REN46438;REN46439;REN46440;REN46441;REN46442;REN46443;REN46444;REN46445;REN46446;REN46447;REN46448;REN46449;REN46450;REN46451;REN46452;REN46453;REN46454;REN46455;REN46456;REN46457;REN46458;REN46459;REN46460;REN46461;REN46462;REN46463;REN46464;REN46465;REN46466;REN46467;REN46468;REN46469;REN46470;REN46471;REN46472;REN46473;REN46474;REN46475;REN46476;REN46477;REN46478;REN46479;REN46480;REN46481;REN46482;REN46483;REN46484;REN46485;REN46486;REN46487;REN46488;REN46489;REN46490;REN46491;REN46492;REN46493;REN46494;REN46495;REN46496;REN46497;REN46498;REN46499;REN46500;REN46501;REN46502;REN46503;REN46504;REN46505;REN46506;REN46507;REN46508;REN46509;REN46510;REN46511;REN46512;REN46513;REN46514;REN46515;REN46523;REN46524;REN46525;REN46526;REN46528;REN46530;REN46577;REN46608;REN46612;REN46615;REN46624;RH122002;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620055;stSG620056;stSG620057;stSG620058;stSG620059;stSG620061;stSG620062;stSG620063;stSG620064;stSG620065;stSG620066;stSG620068;stSG620069;stSG620070;stSG620071;stSG620072;stSG620073;stSG620074;stSG620075;stSG620076;stSG620077;stSG620078;stSG620079;stSG620080;stSG620081;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-8;UGT-1H;UGT1-08;UGT1.8;UGT1A8S;UGT1H OTTHUMP00000065199;OTTHUMP00000065200;UDP glycosyltransferase 1 family, polypeptide A8;UDP-glucuronosyltransferase 1 family polypeptide A8s;UDP-glucuronosyltransferase 1-8;UDP-glucuronosyltransferase 1-H;UDP-glucuronosyltransferase 1A8;UGT-1H;UGT1*8;UGT1-08;UGT1.8 APPROVED protein-coding ENSG00000242366 12540 07072 606433 REVIEWED 70821 UGT1A@ UDP glycosyltransferase 1 family, polypeptide A1 1580863;6480464 7361 Q8WUQ4 12529 1343519 UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008] 2 2 q37 234292177 234346684 + 234627438 234681945 + 1580863;5129558;6480464;6907045 19250197 9271343;1898728;19204906;18676680;18632753;18433817;18223460;18223459;18161889;17556526;15855727;15855726;15708967;15135306;15057901;14871856;14672974;14570768;12477932;12433823;11465080;11434514;10836148;10220490;9535849;9295054;8467709;8280139;8276413;1634050;1339448;12695355;22713701;22367373;19890225;19170196;19414484;19419973;19625176;19692168;19898482;20007295;20453000;19913121;20628086;21646302;21601426;21886157;22085899;22511988;22047493;22558097;21988832;23281178;23371916 54657 B8K288;P22310 ABBA01001949;ABBA01001950;AC006985;AC114812;AF297093;AF465195;AF465196;AF465197;AK313623;AMYH01011579;AMYH01011580;AY435139;BC121036;BC131623;BC139784;CH471063;M57951;M84128;NG_002601;NM_007120 AAA61249;AAA63196;AAF03522;AAG30422;AAI21037;AAI31624;AAI39785;AAL73503;AAL73504;AAL73505;AAR95640;AAY24023;BAG36384;EAW71061;NP_009051;P22310 Hs.554822 1659705;1744505;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1804900;1805190;1806278;1807916;1809098;1809344;1809430;1810944;1813554;1815498;1816240;1816652;1818102;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829248;1834124;1834178;1834370;1834754;1836020;1837528;1843664;1844606;1845350;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950630;1950642;2107751;2110791;2150795;2185258;2201320;2201330;2201332;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5037277 D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD03385;ECD03538;ECD04094;ECD04933;ECD05537;ECD05663;ECD05707;ECD06470;ECD07800;ECD08785;ECD09161;ECD09369;ECD10107;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD19171;ECD19931;ECD23043;ECD23517;ECD23892;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46113;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46167;REN46173;RH48302;RH68970;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620104;stSG620110;stSG620111;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 HUG-BR2;UDPGT;UDPGT 1-4;UGT-1D;UGT1-04;UGT1.4;UGT1D OTTHUMP00000065194;OTTHUMP00000065199;OTTHUMP00000199448;UDP-glucuronosyltransferase 1-4;UDP-glucuronosyltransferase 1-D;UDP-glucuronosyltransferase 1A4;UGT-1D;UGT1*4;UGT1-04;UGT1.4;bilirubin UDP-glucuronosyltransferase isozyme 2;bilirubin-specific UDPGT isozyme 2 APPROVED protein-coding ENSG00000244474 12536 08402 606429 REVIEWED 1601678 UGT2A2 UDP glucuronosyltransferase 2 family, polypeptide A2 4 4 4 q13.3 67801132 67858275 - 70489679 70539923 - 70454135 70505360 - 6907045;6480464 16141793;9847074;10359671;15815621;19858781 574537 Q9Y4X1 ABBA01022917;ABBA01022918;ABBA01022919;ABBA01022920;ABBA01022921;AC093829;AMYH01014271;FJ664272;FJ664273;NM_001105677 ACV70034;ACV70035;NP_001099147 Hs.225950 2110019 UGT2A1_9200 OTTHUMP00000220482;OTTHUMP00000220483;UDP-glucuronosyltransferase 2A2 protein-coding ENSG00000271271 28183 VALIDATED 1320978 UGP2 UDP-glucose pyrophosphorylase 2 The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p14-p13 63913075 63963963 + 63921602 63972200 + 64068098 64118696 + 1580863;6480464;6907045 8354390;17353931;17474147;8631325;15489334;21319273;12477932;12107410;8612650;16189514;16169070;16501559;16713569;17482904;20514852;17207965;20300197;22863883;22939629;21139048;21890473;21906983;22132858;21988832;23000965;23254995;23503679;12054535 7360 C9J3M0;C9J6Q0;C9JNZ1;C9JQU9;C9JTZ5;C9JUW1;C9JVG3;C9JWG0;E7EUC7;F2Z3H1;F2Z3P4;F8WC70;F8WDA2;H7C500;Q16851 ABBA01075408;ABBA01075409;ABBA01075410;AC092588;AC114748;AF086113;AK300731;AK314263;AMYH01010396;BC000173;BC002954;BC047004;BX537559;BX647825;CA389301;CD516624;CH471053;NM_001001521;NM_006759;U27460 AAB05640;AAH00173;AAH02954;AAH47004;AAX93207;ADQ32826;BAG36928;BAG62404;EAW99953;EAW99954;EAW99955;EAW99956;EAW99957;NP_001001521;NP_006750;Q16851 Hs.516217 1696222;1701078;1765991;1769879;2108977;2124757;2142260;2150820;2150822;5016010;5119146 A006D30;D2S1659E;D2S1935E;G20727;NM_006759;RH104166;RH45595;SHGC-149387;SHGC-31592;SHGC-83575;UGP2_8704 UDPG;UDPGP;UDPGP2;UGP1;UGPP1;UGPP2;pHC379 OTTHUMP00000159899;OTTHUMP00000214361;OTTHUMP00000214362;OTTHUMP00000214363;UDP-glucose diphosphorylase;UDP-glucose pyrophosphorylase 1;UDPGP;UGPase 2;UTP--glucose-1-phosphate uridylyltransferase;UTP--glucose-1-phosphate uridylyltransferase 2;UTP-glucose-1-phosphate uridyltransferase;Uridyl diphosphate glucose pyrophosphorylase-1;uridyl diphosphate glucose pyrophosphorylase 2 APPROVED protein-coding ENSG00000169764 12527 08934 191760 REVIEWED 4890734 UGT2A3P7 UDP glucuronosyltransferase 2 family, polypeptide A3 pseudogene 7 4 4 67729502 67730153 - 70383446 70384097 - 100422023 ABBA01022917;AC093829;AMYH01014271;NG_025126 pseudo 39429 INFERRED 1346968 UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008] 2 2 q37 234209862 234346690 + 234545123 234681951 + 1580863;5129558;6480464;6907045 19250197 19244109;18570380;18556656;18161889;18052087;17603215;17558305;16475821;16019943;15618702;15489334;15117964;15057901;14672974;12910533;12847094;12695339;12477932;11901093;11465080;11434514;11179432;10836148;10748067;10497143;10024527;9647757;9325166;9295054;9271343;8467709;2108603;19913121;20297805;20628086;20089735;20972438;20800603;20732626;18725508;19414484;19419973;19898482;20007297;20007669;20379614;21832049;22659092;21646302;21846474;22031623;21886157;22085899;22511988;22558097;23281178;23371916;23160818 54575 Q5DT02;Q7Z6H8;Q9HAW8 ABBA01001949;ABBA01001950;AC006985;AC019072;AF297093;AK025403;AMYH01011579;AMYH01011580;AY435137;BC020971;BC053576;BC069210;CH471063;NG_002601;NM_019075;U39550;U89508 AAA80547;AAB81537;AAF03522;AAG30417;AAH20971;AAH53576;AAH69210;AAR95638;EAW71058;NP_061948;Q9HAW8 Hs.554822 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N46423;REN46424;REN46425;REN46426;REN46427;REN46428;REN46430;REN46431;REN46432;REN46433;REN46434;REN46435;REN46436;REN46437;REN46438;REN46439;REN46440;REN46441;REN46442;REN46443;REN46444;REN46445;REN46446;REN46447;REN46448;REN46449;REN46450;REN46451;REN46452;REN46453;REN46454;REN46455;REN46456;REN46457;REN46482;REN46496;REN46497;REN46498;REN46507;REN46508;REN46511;REN46577;REN46608;REN46612;REN46615;REN46624;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620055;stSG620057;stSG620063;stSG620064;stSG620065;stSG620066;stSG620068;stSG620069;stSG620070;stSG620071;stSG620072;stSG620073;stSG620074;stSG620075;stSG620076;stSG620077;stSG620078;stSG620079;stSG620080;stSG620081;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UGT-1J;UGT1-10;UGT1.10;UGT1J OTTHUMP00000065196;OTTHUMP00000065197;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A10;UDP-glucuronosyltransferase 1-10;UDP-glucuronosyltransferase 1-J;UDP-glucuronosyltransferase 1A10;UDPGT 1-10;UGT-1J;UGT1*10;UGT1-10;UGT1.10 APPROVED protein-coding ENSG00000242515 12531 07336 606435 REVIEWED 1351935 UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008] 2 2 q37 234255323 234346684 + 234590584 234681945 + 1580863;2317503;2317157;5129558;6480464;6907045 12806614;17072959;19250197 15929176;19430315;19364970;19360737;19349540;19303655;19204906;18990750;18597651;18556656;18349289;18271934;18223459;18054330;18052087;18021430;17870518;17850628;17558305;17529886;17479406;17406868;17325733;16969497;16724991;16636344;16620591;16199544;16159430;16143514;16097053;16086712;16030093;15682470;15319294;15073122;14672974;14557274;12944498;12732365;12477932;12122597;12010889;11677206;11562393;11465080;11434514;11037804;10836148;9295054;9271343;8467709;15709193;20860988;19996319;18695635;19414484;19419973;19712005;19898482;19956635;20193274;20534012;19913121;20297805;20565459;20567810;20628086;20628391;20634891;21646302;21440586;22901212;22085268;21886157;22085899;22511988;22558097;23281178;23371916;22402308 54577 H0Y8D7;Q5DSZ7;Q9HAW7 ABBA01001949;ABBA01001950;AC006985;AC114812;AF110191;AF110192;AF110193;AF296126;AF296127;AF296128;AF297093;AF434903;AF434904;AF436810;AF461758;AF502567;AMYH01011579;AMYH01011580;AY435142;BC001521;CS362791;DQ383513;NG_002601;NM_019077;U39570;U89507 AAA80548;AAB81536;AAF03522;AAG30419;AAG43194;AAG43195;AAG43196;AAH01521;AAI46419;AAI53173;AAK97173;AAK97174;AAK97175;AAQ04300;AAQ04301;AAQ04478;AAQ04806;AAQ07456;AAR95643;AAY24023;ABD42926;CAL32687;NP_061950;Q9HAW7 Hs.554822 1659481;1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805550;1805676;1806278;1806718;1807176;1807302;1807384;1807916;1808626;1809098;1809344;1809430;1810944;1811256;1811640;1813554;1814642;1815498;1816152;1816240;1816398;1816494;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824514;1824666;1826004;1826542;1826992;1828384;1828476;1829246;1829248;1829856;1834124;1834178;1834370;1834754;1835388;1836020;1837528;1839962;1841580;1843664;1843844;1844606;1845350;1845616;1845792;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;1950652;1950654;1950656;1950658;1950660;1950662;1950664;1950666;1950668;1950670;1950672;1950674;1950676;1950678;1950680;1950682;1950684;1950686;1950688;1950690;1950692;1950694;1950696;1950698;1950700;1950702;1950704;1950706;1950708;1950710;1950712;1950714;1950716;1950718;1950720;1950722;1950724;1950726;1950728;1950730;1950732;1950734;1950736;1950738;1950740;1950742;1950744;1950746;1950748;1950750;1950752;1950754;1950756;1950758;1950760;1950762;1950764;1950766;1950768;1950770;1950772;1950774;1950776;1950778;1950780;1950782;1950784;1950786;1950788;1950790;1950792;1950794;1950796;1950798;1950800;1950802;1950804;1950806;1950808;1950810;1950812;1950814;1950816;1950818;1950820;1950822;1950824;1950826;1950828;1950830;1950832;1950834;1950836;1950838;1950840;1950842;1950844;1950846;1950848;1950850;1950852;1950854;1950856;1950858;1950860;1950862;1950864;1950866;1950868;1950870;1950872;1950874;1950876;1950878;1951188;1951306;1951308;2107751;2110791;2150795;2185258;2201276;2201278;2201280;2201282;2201284;2201286;2201288;2201290;2201292;2201294;2201296;2201298;2201300;2201302;2201304;2201306;2201308;2201310;2201312;2201314;2201316;2201318;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396 AFMB341XG5;D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03723;ECD03788;ECD04094;ECD04316;ECD04554;ECD04621;ECD04663;ECD04933;ECD05295;ECD05537;ECD05663;ECD05707;ECD06470;ECD06626;ECD06823;ECD07800;ECD08351;ECD08785;ECD09116;ECD09161;ECD09241;ECD09289;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13355;ECD13431;ECD14111;ECD14385;ECD14611;ECD15318;ECD15365;ECD15752;ECD15753;ECD16061;ECD18210;ECD18237;ECD18333;ECD18525;ECD18849;ECD19171;ECD19931;ECD21165;ECD21987;ECD23043;ECD23133;ECD23517;ECD23892;ECD24026;ECD24115;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;REN46178;REN46179;REN46180;REN46181;REN46182;REN46183;REN46184;REN46185;REN46186;REN46187;REN46188;REN46189;REN46190;REN46191;REN46192;REN46193;REN46194;REN46195;REN46196;REN46197;REN46198;REN46199;REN46200;REN46201;REN46202;REN46203;REN46204;REN46205;REN46206;REN46207;REN46208;REN46209;REN46210;REN46211;REN46212;REN46213;REN46214;REN46215;REN46216;REN46217;REN46218;REN46219;REN46220;REN46221;REN46222;REN46223;REN46224;REN46225;REN46226;REN46227;REN46228;REN46229;REN46230;REN46231;REN46232;REN46233;REN46234;REN46235;REN46236;REN46237;REN46238;REN46239;REN46240;REN46241;REN46242;REN46243;REN46244;REN46245;REN46246;REN46247;REN46248;REN46249;REN46250;REN46251;REN46252;REN46253;REN46254;REN46255;REN46256;REN46257;REN46258;REN46259;REN46260;REN46261;REN46262;REN46263;REN46264;REN46265;REN46266;REN46267;REN46268;REN46269;REN46270;REN46271;REN46272;REN46273;REN46274;REN46275;REN46276;REN46277;REN46278;REN46279;REN46280;REN46281;REN46282;REN46283;REN46284;REN46285;REN46286;REN46287;REN46288;REN46289;REN46290;REN46291;REN46448;REN46507;REN46508;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 UDPGT;UDPGT 1-7;UGT-1G;UGT1-07;UGT1.7;UGT1G OTTHUMP00000065057;OTTHUMP00000065199;UDP glycosyltransferase 1 family, polypeptide A7;UDP-glucuronosyltransferase 1 family polypeptide A7s;UDP-glucuronosyltransferase 1-7;UDP-glucuronosyltransferase 1-G;UDP-glucuronosyltransferase 1A7;UGT-1G;UGT1*7;UGT1-07;UGT1.7 APPROVED protein-coding ENSG00000244122 12539 09397 606432 REVIEWED 1349499 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008] 2 2 q37 234265060 234346690 + 234600321 234681951 + 1580863;6480464;6907045 19267064;3141926;19424794;19406951;19356052;19262071;19223558;19204906;19064572;18992263;18992148;18784359;18318774;18161889;17965524;17927138;17925173;17622933;17609736;17479406;17424838;17301691;17085674;16969497;16797247;16529747;16399344;16399343;16344560;16305586;16141797;15855726;15770079;15770010;15761114;15319294;15284531;15258112;15247627;14672974;14646291;12732365;12623074;12480553;12477932;12170472;12009407;11714888;11465080;11434514;10836148;9800648;9466822;9429234;9295054;8889548;8877866;8280139;8276413;2108603;1898728;1634050;1339448;20860988;20854796;18695635;19913121;20628086;20679960;20686835;19414484;19419973;19437564;19450126;19575027;19712005;19799547;19898482;19956635;20007669;20453000;20540849;22901212;21646302;22030088;21625173;21266593;21586239;21666065;21886157;22085899;22511988;22228101;22558097;22450351;23099353;23281178;23371916;22912755 54578 B5MCT4;C9JMY5;H7C5F8;P19224;Q5DSZ8;Q5DT01 ABBA01001949;ABBA01001950;AC006985;AF014112;AF297093;AMYH01011579;AMYH01011580;AY435141;BC011409;BC019861;BE463503;BM688740;BM924331;CH471063;DB014621;DQ364250;J04093;M84124;M84130;NG_002601;NM_001072;NM_205862 AAA61247;AAA61251;AAB87411;AAC41717;AAG30420;AAH19861;AAR95642;ABC96774;EAW71055;NP_001063;NP_995584;P19224 Hs.554822 1659481;1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805550;1805676;1806278;1807176;1807302;1807916;1808626;1809098;1809344;1809430;1810944;1811640;1813554;1814642;1815498;1816152;1816240;1816398;1816494;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824666;1826004;1826992;1828476;1829246;1829248;1834124;1834178;1834370;1834754;1835388;1836020;1837528;1843664;1844606;1845350;1845616;1845792;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;1950652;1950654;1950656;1950658;1950660;1950662;1950664;1950666;1950668;1950670;1950672;1950674;1950676;1950678;1950680;1950682;1950684;1950686;1950688;1950690;1950692;1950694;1950696;1950698;1950700;1950702;1950704;1950706;1950708;1950710;1950712;1950714;1950716;1950718;1950720;1950722;1950724;1950726;1950728;1950730;1950732;1950734;1950736;1950738;1950740;1950742;1950744;1950746;1950748;1950750;1950752;1950754;1950756;1950758;1950760;1950762;1950764;1950766;1950768;1950770;1950772;1950774;1950776;1950778;1950780;1950782;1950784;1950786;1950788;1950790;1950792;1950794;1950796;1950798;1950800;1950802;2107751;2110791;2150795;2185258;2201292;2201294;2201296;2201298;2201300;2201302;2201304;2201306;2201308;2201310;2201312;2201314;2201316;2201318;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5119753 AFMB341XG5;D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03723;ECD03788;ECD04094;ECD04554;ECD04621;ECD04933;ECD05295;ECD05537;ECD05663;ECD05707;ECD06470;ECD06823;ECD07800;ECD08351;ECD08785;ECD09116;ECD09161;ECD09241;ECD09289;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13431;ECD14111;ECD14611;ECD15365;ECD15752;ECD15753;ECD18210;ECD18237;ECD18333;ECD18525;ECD18849;ECD19171;ECD19931;ECD23043;ECD23517;ECD23892;ECD24026;ECD24115;GDB:181246;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;REN46178;REN46179;REN46180;REN46181;REN46182;REN46183;REN46184;REN46185;REN46186;REN46187;REN46188;REN46189;REN46190;REN46191;REN46192;REN46193;REN46194;REN46195;REN46196;REN46197;REN46198;REN46199;REN46200;REN46201;REN46202;REN46203;REN46204;REN46205;REN46206;REN46207;REN46208;REN46209;REN46210;REN46211;REN46212;REN46213;REN46214;REN46215;REN46216;REN46217;REN46218;REN46219;REN46220;REN46221;REN46222;REN46223;REN46224;REN46225;REN46226;REN46227;REN46228;REN46229;REN46230;REN46231;REN46232;REN46233;REN46234;REN46235;REN46236;REN46237;REN46238;REN46239;REN46240;REN46241;REN46242;REN46243;REN46244;REN46245;REN46246;REN46247;REN46248;REN46249;REN46250;REN46251;REN46252;REN46253;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 GNT1;HLUGP;HLUGP1;MGC29860;UDPGT;UDPGT 1-6;UGT1;UGT1A6S;UGT1F OTTHUMP00000065198;OTTHUMP00000065199;OTTHUMP00000199449;OTTHUMP00000199450;UDP glycosyltransferase 1 family, polypeptide A6;UDP-glucuronosyltransferase 1 family polypeptide A6s;UDP-glucuronosyltransferase 1-6;UDP-glucuronosyltransferase 1-F;UDP-glucuronosyltransferase 1A6;UGT-1F;UGT1*6;UGT1-06;UGT1.6;phenol-metabolizing UDP-glucuronosyltransferase APPROVED protein-coding ENSG00000167165 12538 07071 606431 REVIEWED 69489 UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] 4 4 4 q13 67800177 67871858 - 70488724 70553503 - 70454135 70518967 - 1300048;1580863;6480464;6907045 11179432;10748067;10359671;19343046;16141793;12376738;11376859;21164388;19858781;19898482;22984225;12477932 10941 D6RFW5;D6RHF3;Q9Y4X1 ABBA01022917;ABBA01022918;ABBA01022919;ABBA01022920;ABBA01022921;AC093829;AJ006054;AK304249;AK314209;AMYH01014271;BC142640;BE463677;CD105882;CH471057;NM_001252274;NM_001252275;NM_006798 AAI56240;AAI57013;BAG65116;CAB41974;EAX05593;EAX05594;NP_001239203;NP_001239204;NP_006789;Q9Y4X1 Hs.225950 2110019 UGT2A1_9200 OTTHUMP00000159764;OTTHUMP00000220481;OTTHUMP00000220482;OTTHUMP00000220483;UDP glycosyltransferase 2 family, polypeptide A1;UDP-glucuronosyltransferase 2A1;UDPGT 2A1 APPROVED protein-coding ENSG00000173610 12542 05279 604716 REVIEWED 1353542 UGT2B24P UDP glucuronosyltransferase 2 family, polypeptide B24 pseudogene 4 4 4 q13 67620255 67621277 + 70308842 70309864 + 70274546 70288993 + 10623541 54572 ABBA01022917;AC108078;AF179876;AMYH01014271;NG_001282 pseudo 12548 VALIDATED 1350006 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010] 4 4 q13 69085497 69116840 - 69402902 69434245 - 1580863;6480464;6907045 18302198;8798464;19574343;19318555;19282302;19224506;19088161;19056415;18992858;18760392;18334593;22170718;17988216;17935910;17848572;17826523;17698910;17416778;17387331;16896035;16332934;16220109;15666817;11853692;9364925;6746859;76619;18281521;18247404;18093280;19572376;19935662;20056642;20142249;20192879;20628005;20429943;20554747;20878390;20876810;20736324;20810538;23294483;21365123;22228205;21677662;21919858;22669291;21614655;23223495;22958586;23053953;23169782 7367 O75795 ABBA01006524;ABBA01006525;ABBA01006526;AC134921;AC147055;AMYH01014257;CH471293;NG_017033;NM_001077;U59209 AAC25491;AAI41518;EAW55622;NP_001068;O75795 Hs.575083 5016199;5023266 D4S2612;G60251 BMND12;UDPGT2B17 C19-steroid-specific UDP-glucuronosyltransferase;C19-steroid-specific UDPGT;OTTHUMP00000159641;UDP glycosyltransferase 2 family, member B17;UDP-glucuronosyltransferase 2B17;UDP-glucuronyltransferase, family 2, beta-17 APPROVED protein-coding ENSG00000197888 12547 03545 601903;612560 REVIEWED 1347362 UGT2B25P UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene 4 4 4 q13 67601200 67610418 + 70289619 70290517 + 70255201 70267912 + 10623541;9847074 54571 ABBA01022916;ABBA01022917;AC108078;AC114786;AF179877;AMYH01014270;AMYH01014271;NG_001281 pseudo 12549 INFERRED 1343331 UGT2B26P UDP glucuronosyltransferase 2 family, polypeptide B26 pseudogene 4 4 4 q13 67235028 67235915 + 69927974 69928861 + 69893503 69910736 + 10623541 54570 ABBA01022916;AC107401;AF179878;AMYH01014257;NG_001280 pseudo 12550 INFERRED 1346099 UGT2B27P UDP glucuronosyltransferase 2 family, polypeptide B27 pseudogene 4 4 4 q13 67227024 67228031 - 69919971 69920978 - 69885382 69886389 - 10623541 54569 ABBA01022916;AC107401;AF179879;AMYH01014257;NG_001279 pseudo 12551 INFERRED 1345630 UGT2B29P UDP glucuronosyltransferase 2 family, polypeptide B29 pseudogene 4 4 4 q13 49964860 49965880 - 69065231 69066251 - 69382636 69383371 - 10623541 54568 ABBA01006523;AC079749;AF179880;AMYH01014257;NG_001278 pseudo 12552 INFERRED 1349165 UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011] 4 4 4 q13.2 67489536 67504128 + 70180806 70195357 + 70146217 70160768 + 1580863;6480464;6907045 11300766;19572376;19898482;20056642;21679149 54490 Q9BY64 AB451456;ABBA01022916;AC114786;AF177272;AF177273;AF177274;CH471057;NG_029527;NM_001207004;NM_053039 AAI56173;AAI57012;AAK31807;AAK31808;AAK31809;BAG70270;EAX05588;EAX05589;EAX05590;NP_001193933;NP_444267;Q9BY64 Hs.653154 1775968 SHGC-67828 OTTHUMP00000159767;OTTHUMP00000220488;UDP glycosyltransferase 2 family, polypeptide B28;UDP-glucuronosyltransferase 2B28;UDPGT 2B28 APPROVED protein-coding ENSG00000135226 13479 05931 606497 REVIEWED 1350116 UGT2B@ UDP glycosyltransferase 2 family, polypeptide B cluster 1639428 7362 12543 1605934 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 4 4 4 q13.2 67135540 67158847 - 69828756 69852093 - 69794177 69817509 - 6480464;6907045 18523138;15342556;12975309;8125298;12477932;19858781;20379614;20819778 79799 D6RBL8;F5GY78;Q6UWM9 ABBA01022914;AC021146;AC226496;AK025587;AK225308;AK293381;AMYH01014257;AW194955;AY358727;AY542891;BC130533;BP262099;CH471057;NM_024743;NR_024010 AAI30534;AAQ89089;AAS48425;ADR83210;BAB15179;BAG56893;EAX05580;EAX05581;NP_079019;Q6UWM9 Hs.122583 2175484 D4S874 FLJ21934 OTTHUMP00000159774;UDP-glucuronosyltransferase 2A3;UDPGT 2A3 protein-coding ENSG00000135220 28528 08646 VALIDATED 1348090 UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. [provided by RefSeq, Jul 2008] 2 2 q37 234245283 234346690 + 234580544 234681951 + 1580863;2325161;5129558;6480464;6907045 9230212;19250197 16198654;11465080;9639672;7989045;1910331;19494809;19364970;19349540;19225446;19204906;19082692;18981166;18946804;18816295;18675828;18602884;18597651;18568343;18502788;18430559;18279479;18221820;18052087;17965524;17924828;17761781;17700594;17576806;17558305;17529886;17440429;17406868;17339869;17264800;17115150;17072959;16636344;16397224;16344532;15864130;15855726;15815621;15712364;15709193;15489334;15470081;15370961;15286088;15284532;15258099;15115919;15057901;14672974;14660172;14550264;14521259;12944498;12847094;12623074;12582161;12477932;12402338;12139570;11854913;11677206;11434514;11370628;11061796;11013440;10946897;10836148;10385426;10335444;9847074;20732626;9627603;9621515;9295054;8706880;8467709;8280139;8276413;8226884;7989595;7906695;7715297;2108603;1898728;1634050;1339448;12695355;21646302;19644937;20089735;18695635;19414484;19419973;19571435;19715905;19881262;19898482;19951703;19956635;20007669;20147615;20214802;20379614;22184458;19913121;20297805;20565459;20628086;20628391;21072184;22492655;21856293;22031623;21856742;22210424;21886157;22085899;22511988;22307138;22302521;22558097;23700788;22912756;22527346;23131697;23281178;23371916;23230132 54600 O60656;Q5DSZ5 ABBA01001949;ABBA01001950;AC006985;AC019072;AC114812;AF056188;AF297091;AF297093;AF481810;AF481811;AK313510;AMYH01011579;AMYH01011580;AY273792;AY282534;AY282535;AY282536;AY282537;AY282538;AY282539;AY282540;AY282541;AY282542;AY326393;AY326394;AY326395;AY345903;AY435144;BC043491;BC058844;CH471063;NG_002601;NM_021027;S55985 AAB19791;AAC31425;AAF03522;AAG29816;AAG30418;AAH58844;AAQ05894;AAQ05895;AAQ84220;AAQ84221;AAQ84222;AAQ84223;AAQ84224;AAQ84225;AAQ84226;AAQ84227;AAQ84228;AAQ84229;AAQ92914;AAQ92915;AAQ92916;AAR10772;AAR95645;AAY24023;BAG36290;EAW71054;NP_066307;O60656 Hs.554822 1659481;1659705;1744505;1763719;1800064;1800110;1800216;1800762;1800878;1801594;1802266;1802632;1802814;1802970;1803414;1803720;1803992;1804900;1805190;1805550;1805676;1806278;1806718;1807176;1807302;1807384;1807916;1808626;1809098;1809344;1809430;1810944;1811256;1811640;1813258;1813554;1814642;1815184;1815498;1816152;1816240;1816398;1816494;1816652;1818102;1820626;1821006;1821224;1823614;1824346;1824514;1824666;1826004;1826350;1826542;1826992;1828384;1828476;1829246;1829248;1829856;1831126;1834124;1834178;1834370;1834754;1835388;1835620;1836020;1836876;1837528;1839962;1841580;1843664;1843844;1844606;1845350;1845616;1845792;1845904;1848492;1950220;1950222;1950224;1950226;1950228;1950230;1950232;1950234;1950236;1950238;1950240;1950242;1950244;1950246;1950248;1950250;1950252;1950254;1950256;1950258;1950260;1950262;1950264;1950266;1950268;1950270;1950272;1950274;1950276;1950278;1950280;1950282;1950284;1950286;1950288;1950290;1950292;1950294;1950296;1950298;1950300;1950302;1950304;1950306;1950308;1950310;1950312;1950314;1950316;1950318;1950320;1950322;1950324;1950326;1950328;1950330;1950332;1950334;1950336;1950338;1950340;1950342;1950344;1950346;1950348;1950350;1950352;1950354;1950356;1950358;1950360;1950362;1950364;1950366;1950368;1950370;1950372;1950374;1950376;1950378;1950380;1950382;1950384;1950386;1950388;1950390;1950392;1950394;1950396;1950398;1950400;1950402;1950404;1950406;1950408;1950410;1950412;1950414;1950416;1950418;1950420;1950422;1950424;1950426;1950428;1950430;1950432;1950434;1950436;1950438;1950440;1950442;1950444;1950446;1950448;1950450;1950452;1950454;1950456;1950458;1950460;1950462;1950464;1950466;1950468;1950470;1950472;1950474;1950476;1950478;1950480;1950482;1950484;1950486;1950488;1950490;1950492;1950494;1950496;1950498;1950500;1950502;1950504;1950506;1950508;1950510;1950512;1950514;1950516;1950518;1950520;1950522;1950524;1950526;1950528;1950530;1950532;1950534;1950536;1950538;1950540;1950542;1950544;1950546;1950548;1950550;1950552;1950554;1950556;1950558;1950560;1950562;1950564;1950566;1950568;1950570;1950572;1950574;1950576;1950578;1950580;1950582;1950584;1950586;1950588;1950590;1950592;1950594;1950596;1950598;1950600;1950602;1950604;1950606;1950608;1950610;1950612;1950614;1950616;1950618;1950620;1950622;1950624;1950626;1950628;1950630;1950632;1950634;1950636;1950638;1950640;1950642;1950644;1950646;1950648;1950650;1950652;1950654;1950656;1950658;1950660;1950662;1950664;1950666;1950668;1950670;1950672;1950674;1950676;1950678;1950680;1950682;1950684;1950686;1950688;1950690;1950692;1950694;1950696;1950698;1950700;1950702;1950704;1950706;1950708;1950710;1950712;1950714;1950716;1950718;1950720;1950722;1950724;1950726;1950728;1950730;1950732;1950734;1950736;1950738;1950740;1950742;1950744;1950746;1950748;1950750;1950752;1950754;1950756;1950758;1950760;1950762;1950764;1950766;1950768;1950770;1950772;1950774;1950776;1950778;1950780;1950782;1950784;1950786;1950788;1950790;1950792;1950794;1950796;1950798;1950800;1950802;1950804;1950806;1950808;1950810;1950812;1950814;1950816;1950818;1950820;1950822;1950824;1950826;1950828;1950830;1950832;1950834;1950836;1950838;1950840;1950842;1950844;1950846;1950848;1950850;1950852;1950854;1950856;1950858;1950860;1950862;1950864;1950866;1950868;1950870;1950872;1950874;1950876;1950878;1950880;1950882;1950884;1950886;1950888;1950890;1950892;1950894;1950896;1950898;1950900;1950902;1950904;1950906;1950908;1950910;1950912;1950914;1950916;1950918;1950920;1950922;1950924;1950926;1950928;1950930;1950932;1950934;1950936;1950938;1950940;1950942;1950944;1950946;1950948;1950950;1950952;1950954;1950956;1950958;1950960;1950962;1951188;1951256;1951286;1951306;1951308;2107751;2110791;2150795;2185258;2201240;2201268;2201270;2201272;2201274;2201276;2201278;2201280;2201282;2201284;2201286;2201288;2201290;2201292;2201294;2201296;2201298;2201300;2201302;2201304;2201306;2201308;2201310;2201312;2201314;2201316;2201318;2201320;2201322;2201324;2201326;2201328;2201330;2201334;2201336;2201340;2201342;2201344;2201346;2201348;2201350;2201352;2201354;2201356;2201364;2201366;2201368;2201370;2201372;2201376;2201378;2201380;2201382;2201384;2201386;2201388;2201390;2201394;2201396;5119753 AFMB341XG5;D2S2843;ECD00887;ECD00911;ECD00965;ECD01243;ECD01304;ECD01675;ECD02017;ECD02203;ECD02295;ECD02375;ECD02604;ECD02766;ECD02911;ECD03385;ECD03538;ECD03723;ECD03788;ECD04094;ECD04316;ECD04554;ECD04621;ECD04663;ECD04933;ECD05295;ECD05537;ECD05663;ECD05707;ECD06470;ECD06626;ECD06823;ECD07649;ECD07800;ECD08351;ECD08627;ECD08785;ECD09116;ECD09161;ECD09241;ECD09289;ECD09369;ECD10107;ECD11388;ECD11579;ECD11689;ECD12899;ECD13271;ECD13355;ECD13431;ECD14111;ECD14288;ECD14385;ECD14611;ECD15318;ECD15365;ECD15752;ECD15753;ECD16061;ECD16699;ECD18210;ECD18237;ECD18333;ECD18525;ECD18849;ECD18966;ECD19171;ECD19602;ECD19931;ECD21165;ECD21987;ECD23043;ECD23133;ECD23517;ECD23892;ECD24026;ECD24115;ECD24172;GDB:181246;GDB:511416;REN45958;REN45959;REN45960;REN45961;REN45962;REN45963;REN45964;REN45965;REN45966;REN45967;REN45968;REN45969;REN45970;REN45971;REN45972;REN45973;REN45974;REN45975;REN45976;REN45977;REN45978;REN45979;REN45980;REN45981;REN45982;REN45983;REN45984;REN45985;REN45987;REN45988;REN45989;REN45990;REN45991;REN45992;REN45993;REN45994;REN45995;REN45996;REN45997;REN45998;REN45999;REN46000;REN46001;REN46002;REN46003;REN46004;REN46005;REN46006;REN46007;REN46008;REN46009;REN46010;REN46011;REN46012;REN46013;REN46014;REN46015;REN46016;REN46017;REN46018;REN46019;REN46020;REN46021;REN46022;REN46023;REN46024;REN46025;REN46026;REN46027;REN46028;REN46029;REN46030;REN46031;REN46032;REN46033;REN46034;REN46035;REN46036;REN46037;REN46038;REN46039;REN46040;REN46041;REN46042;REN46043;REN46044;REN46045;REN46046;REN46047;REN46048;REN46049;REN46050;REN46051;REN46052;REN46053;REN46054;REN46055;REN46056;REN46057;REN46058;REN46059;REN46060;REN46061;REN46062;REN46063;REN46064;REN46065;REN46066;REN46067;REN46068;REN46069;REN46070;REN46071;REN46072;REN46073;REN46074;REN46075;REN46076;REN46077;REN46078;REN46079;REN46080;REN46081;REN46082;REN46083;REN46084;REN46085;REN46086;REN46087;REN46088;REN46089;REN46090;REN46091;REN46092;REN46093;REN46094;REN46095;REN46096;REN46097;REN46098;REN46100;REN46101;REN46102;REN46103;REN46104;REN46105;REN46106;REN46107;REN46108;REN46109;REN46110;REN46111;REN46112;REN46114;REN46115;REN46116;REN46117;REN46118;REN46119;REN46120;REN46121;REN46122;REN46123;REN46124;REN46125;REN46126;REN46127;REN46128;REN46129;REN46130;REN46131;REN46132;REN46133;REN46134;REN46135;REN46136;REN46137;REN46138;REN46139;REN46140;REN46141;REN46142;REN46143;REN46144;REN46145;REN46146;REN46147;REN46148;REN46149;REN46151;REN46152;REN46153;REN46154;REN46155;REN46156;REN46157;REN46158;REN46159;REN46160;REN46161;REN46162;REN46163;REN46164;REN46165;REN46166;REN46167;REN46168;REN46169;REN46170;REN46171;REN46172;REN46173;REN46174;REN46175;REN46176;REN46177;REN46178;REN46179;REN46180;REN46181;REN46182;REN46183;REN46184;REN46185;REN46186;REN46187;REN46188;REN46189;REN46190;REN46191;REN46192;REN46193;REN46194;REN46195;REN46196;REN46197;REN46198;REN46199;REN46200;REN46201;REN46202;REN46203;REN46204;REN46205;REN46206;REN46207;REN46208;REN46209;REN46210;REN46211;REN46212;REN46213;REN46214;REN46215;REN46216;REN46217;REN46218;REN46219;REN46220;REN46221;REN46222;REN46223;REN46224;REN46225;REN46226;REN46227;REN46228;REN46229;REN46230;REN46231;REN46232;REN46233;REN46234;REN46235;REN46236;REN46237;REN46238;REN46239;REN46240;REN46241;REN46242;REN46243;REN46244;REN46245;REN46246;REN46247;REN46248;REN46249;REN46250;REN46251;REN46252;REN46253;REN46254;REN46255;REN46256;REN46257;REN46258;REN46259;REN46260;REN46261;REN46262;REN46263;REN46264;REN46265;REN46266;REN46267;REN46268;REN46269;REN46270;REN46271;REN46272;REN46273;REN46274;REN46275;REN46276;REN46277;REN46278;REN46279;REN46280;REN46281;REN46282;REN46283;REN46284;REN46285;REN46286;REN46287;REN46288;REN46289;REN46290;REN46291;REN46292;REN46293;REN46294;REN46295;REN46296;REN46297;REN46298;REN46299;REN46300;REN46301;REN46302;REN46303;REN46304;REN46305;REN46306;REN46307;REN46308;REN46309;REN46310;REN46311;REN46312;REN46313;REN46314;REN46315;REN46316;REN46317;REN46318;REN46319;REN46320;REN46321;REN46322;REN46323;REN46324;REN46325;REN46326;REN46327;REN46328;REN46329;REN46330;REN46331;REN46332;REN46333;REN46448;REN46482;REN46497;REN46507;REN46508;RH48302;RH68970;SHGC-147389;UGT1A10_9802;UGT1A1_286.2;WI-12095;stSG620064;stSG620078;stSG620079;stSG620080;stSG620081;stSG620082;stSG620083;stSG620084;stSG620085;stSG620086;stSG620087;stSG620088;stSG620089;stSG620090;stSG620091;stSG620092;stSG620093;stSG620094;stSG620095;stSG620096;stSG620097;stSG620098;stSG620099;stSG620100;stSG620101;stSG620102;stSG620103;stSG620104;stSG620106;stSG620107;stSG620108;stSG620109;stSG620110;stSG620112;stSG620113;stSG620115;stSG620116;stSG620117;stSG620119;stSG620120;stSG620121;stSG620122;stSG620123;stSG620124;stSG620128;stSG620129;stSG620130;stSG620131;stSG620132;stSG620134;stSG620136;stSG620137;stSG620138;stSG620140;stSG620141;stSG620142;stSG620143;stSG620145;stSG620146 HLUGP4;LUGP4;UDPGT;UDPGT 1-9;UGT-1I;UGT1-09;UGT1-9;UGT1.9;UGT1AI;UGT1I OTTHUMP00000065199;OTTHUMP00000065201;UDP glycosyltransferase 1 family, polypeptide A9;UDP-glucuronosyltransferase 1-9;UDP-glucuronosyltransferase 1-I;UDP-glucuronosyltransferase 1A9;UGT-1I;UGT1*9;UGT1-9;UGT1.9;UGT1I APPROVED protein-coding ENSG00000241119 12541 07073 606434 REVIEWED 1343349 UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 This gene encodes a member of the UDP-glycosyltransferase (UDPGT) family. The UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein displays activity towards several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. [provided by RefSeq, Oct 2011] 4 4 q13 69546932 69571114 - 69512315 69536494 - 1580863;6480464;6907045 7835232;9295060;9202245;8399210;7835904;7574722;3100939;2116769;12695355;19487245;19343046;18496127;18302198;18281521;18161889;17988216;17848572;17698910;17687269;17576806;17507624;17244352;16859836;16690804;16513443;15961980;15952058;15815621;15666817;15618667;15318931;15126881;15065092;15044558;12880121;12646996;12477932;12386133;12376738;12010866;11129427;10748067;10468930;10024527;22170718;19572376;19847790;19898482;19916996;19956635;20142249;20736324;23223495;21365123;21404072;22960998;22532564;22829776;21666065 7366 AAB28536;B7ZW53;P54855 ABBA01022911;ABBA01022912;ABBA01022913;AC019173;AC147055;AF179404;AF180322;AF548389;AK289419;AMYH01014257;BC171879;CH471057;NM_001076;U06641;U08854 AAA83406;AAB28536;AAC50077;AAD55093;AAF25010;AAI41424;AAI46571;AAI71879;AAN40695;BAF82108;EAX05574;NP_001067;P54855 Hs.150207 1848165;2146387;5016199;5019028;5023266 D4S2612;G42996;G60251;SHGC-59737;SHGC-68230 HLUG4;UDPGT 2B8;UDPGT2B15;UDPGTH3;UGT2B8 OTTHUMP00000220326;UDP glycosyltransferase 2B15;UDP-glucuronosyltransferase 2B15;UDP-glucuronosyltransferase 2B8;UDP-glucuronosyltransferase UGT2B15;UDP-glucuronyltransferase, family 2, beta-15;UDPGT 2B15;UDPGTh-3;udp glycosyltransferase 2 family, polypeptide b15 APPROVED protein-coding ENSG00000196620 12546 07192 600069 REVIEWED 1320630 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 4 4 q13.2 69716318 69731209 + 69681713 69697741 + 1580863;6480464;6907045 8333863;18300939;17909004;17576790;16335952;15489334;12477932;10748067;10024527;8125298;20501767;20876810;20799965;22228205 7365 B4DPP1;P36537;Q53GU2 ABBA01022914;AC021146;AC226496;AK222839;AK222872;AK292738;AK298432;AMYH01014257;BC113649;CH471057;NM_001075;NM_001144767 AAI13650;BAD96559;BAD96592;BAF85427;BAG60653;EAX05576;EAX05577;EAX05578;NP_001066;NP_001138239;P36537 Hs.201634 MGC142209;UDPGT2B10 OTTHUMP00000220324;OTTHUMP00000220325;UDP glucuronosyltransferase 2B10;UDP-glucuronosyltransferase 2B10;UDPGT 2B10;udp glycosyltransferase 2 family, polypeptide b10 protein-coding 12544 07193 600070 VALIDATED 1345333 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 4 4 4 q13.2 67407680 67422093 - 70100624 70115038 - 70066035 70080449 - 1580863;6480464;6907045 8333863;19343046;15489334;12477932;9675083;19898482;20214802;21679149 10720 O75310;Q9NS17 ABBA01022916;AC111000;AC114797;AF016492;AF135417;AMYH01014257;BC069441;BC107059;BC107060;CH471057;NM_001073 AAC27891;AAF78146;AAH69441;AAI07060;AAI07061;AAY41046;EAX05586;EAX05587;NP_001064;O75310 Hs.339811 MGC129611;MGC129612 OTTHUMP00000159761;UDP glycosyltransferase 2 family protein;UDP glycosyltransferase 2 family, polypeptide B11;UDP-glucuronosyltransferase 2B11;UDPGT 2B11 protein-coding ENSG00000213759 12545 04345 603064 PROVISIONAL 1604978 UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 5 5 5 p13.2 35920807 35952718 - 36070881 36102741 - 36035119 36067023 - 6480464 16303743;12975309;12477932;22621930;16344560;20819778 167127 D6RDU1;D6RHY1;F5H377;Q3SY77 ABBA01024160;AC016612;AK075383;AK300751;AK303154;AMYH01015025;AY358416;BC103924;BC103925;CH471119;CS051177;DB110369;NM_001168316;NM_174914;NR_031764 AAI03925;AAI03926;AAQ88782;BAC11583;BAG62419;BAG64257;CAI72084;EAW55931;NP_001161788;NP_777574;Q3SY77 Hs.348941 1681688;1697610;1735516;1785606 D5S1644E;RH102317;RH99081;SHGC-155341 MGC119426;MGC119429 OTTHUMP00000161736;OTTHUMP00000221219;UDP-glucuronosyltransferase 3A2;UDPGT 3A2 protein-coding ENSG00000168671 27266 14111 VALIDATED 1601933 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 5 5 5 p13.2 35838879 35886819 - 35988967 36027256 - 35953191 36001130 - 6480464 18981171;14702039;12477932;22621930;20379614;20800603;19814657 133688 A8K444;B7Z3N0;B7Z8Q8;D6RHV6;E9PD17;Q6NUS8 ABBA01024159;AC016612;AC112204;AI244517;AK057066;AK091977;AK125803;AK290809;AK296136;AK303770;AK308046;AK315851;AMYH01015024;BC035012;BC068446;CH471119;NM_001171873;NM_152404 AAH35012;AAH68446;BAB71358;BAF83498;BAF98742;BAH12266;BAH14044;EAW55927;EAW55928;EAW55929;NP_001165344;NP_689617;Q6NUS8 Hs.254699 1336447;1339935;1697610;1723643;1728489;7186734;7187064;7187361 D5S2025;D5S455;G63682;RH102317;RH118739 FLJ26528;FLJ34658 OTTHUMP00000161735;OTTHUMP00000221783;OTTHUMP00000221784;UDP-glucuronosyltransferase 3A1;UDPGT 3A1 protein-coding ENSG00000145626 26625 08175 VALIDATED 1344144 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 4 4 q13 70380472 70396215 - 70345883 70361626 - 1580863;6480464;6907045 8687483;7835904;3109396;2492950;1554722;13929;8333863;19343046;18161889;17263731;16849011;16513443;16344560;15489334;15319348;15318931;12810707;12806625;12477932;10748067;10376768;10222050;9295054;9271674;19913121;20628086;19898482;20139797;20142249;20214802;18052087;20734064;21660508;22092298;22367021 7363 A6NCP7;D6RGY0;G5E9X8;P06133 ABBA01022917;AC093829;AC108078;AF064200;AF081793;AF135416;AJ005162;AK292748;AK300084;AMYH01014271;AY529122;BC026264;CH471057;DB185148;DQ520733;NM_021139;Y00317 AAC32272;AAC95002;AAF78145;AAH26264;AAS47487;ABF47107;ABM86129;BAF85437;BAG61887;CAA06396;CAA68415;EAX05591;EAX05592;NP_066962;P06133 Hs.285887 1696432;1854117 SHGC-79730;STS-Y00317 HLUG25;UDPGT2B4;UDPGTH1;UGT2B11 OTTHUMP00000220485;OTTHUMP00000220486;UDP glucuronosyltransferase 2B4;UDP-glucuronosyltransferase 2B4;UDP-glucuronyltransferase, family 2, beta-4;UDPGT 2B4;UDPGTh-1;hyodeoxycholic acid;hyodeoxycholic acid-specific UDPGT;udp glycosyltransferase 2 family, polypeptide b4 protein-coding ENSG00000156096 12553 02507 600067 VALIDATED 1351542 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. [provided by RefSeq, Sep 2011] 4 4 q13 69996814 70013293 + 69962193 69978705 + 1580863;5129558;6480464;6907045 19250197 17440429;11883901;2159463;19628728;19574343;19494809;19424794;19408577;19352303;19343046;19289110;19244109;19225446;18946804;18719619;18647858;18641546;18622263;18622261;18597651;18569595;18496127;18315786;18161889;17978490;17965522;17924828;17724700;17706742;17687269;17670842;17579197;17446261;17442341;17429314;17363580;17339869;17329852;17263731;17241877;17178267;17115150;16849011;16595916;16580900;16466707;16397224;16103897;15815621;15689421;15615884;15611481;15489334;15472229;15320866;15319348;15318931;15001974;14871856;14660172;12811366;12746330;12629580;12623074;12477932;12185559;11186130;10833461;10779377;10748067;10222050;10024527;8674824;8125298;7835904;12695355;22188362;20297805;20565459;20567810;20634197;20679960;20814162;19116784;19730281;19779319;19898482;19956635;20008037;20056642;20064729;20142249;20147615;20216122;20379614;19644937;18052087;22462748;20734064;20860463;20973683;21044367;21123165;21056984;21415305;21881541;22092298;22676193;22028316;21856742;21988832;22240840;23131697;23099353;23251661;23700788;23263737;23223495;23230132 7364 D6RH08;E9PBP8;P16662 ABBA01022916;AC111000;AF282881;AK223142;AK313190;AMYH01014257;AW614236;AY185169;BC030974;CH471057;J05428;NM_001074;S82485 AAA36793;AAD14400;AAG01472;AAH30974;AAO65542;AAY41045;ABM84583;ABM86740;BAD96862;BAG36007;EAX05582;EAX05583;EAX05584;EAX05585;NP_001065;P16662 Hs.654424 2155274;5126547;5126549 D4S3134;SHGC-50220;SHGC-67984 UDPGT 2B9;UDPGT2B7;UDPGTH2;UGT2B9 3,4-catechol estrogen specific;3,4-catechol estrogen-specific UDPGT;OTTHUMP00000159770;OTTHUMP00000218892;OTTHUMP00000218893;UDP glucuronosyltransferase 2B7;UDP-glucuronosyltransferase 2B7;UDP-glucuronosyltransferase 2B9;UDP-glucuronyltransferase, family 2, beta-7;UDPGT 2B7;UDPGTh-2;udp glycosyltransferase 2 family, polypeptide b7 APPROVED protein-coding ENSG00000171234 12554 02508 600068 VALIDATED 5128766 UHRF2P1 ubiquitin-like with PHD and ring finger domains 2 pseudogene 1 X X X q13.2 73608882 73611966 + 73242135 73245219 + 73325115 73328656 + 260337 ABBA01059606;ABBA01059607;AF375056;AL359740;AMYH01022611;NG_002342 pseudo 39565 INFERRED 1343181 UGT8 UDP glycosyltransferase 8 The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011] 4 4 q26 115762972 115817201 + 115519611 115598202 + 1580863;6480464;6907045 8661025;19343046;16344560;16125333;15489334;15229398;12925779;12477932;12376738;9748263;9125199;8125298;8457384;7941321;19125296;19898482;20332099;20648017;23118445 7368 D6RFW2;Q16880 ABBA01063845;ABBA01063846;AC122938;AC127386;AK127970;AK225763;AK294438;AMYH01014475;AMYH01014476;BC075069;CH471057;DA140992;DA295156;NM_001128174;NM_003360;U30930;U32370;U62899 AAC50565;AAC50815;AAC51187;AAH75069;BAG54609;BAG57681;EAX06307;NP_001121646;NP_003351;Q16880 Hs.144197 1678597;2108979;2126699;2142759;5022637;5118147;5491742 D11S2766;D11S3017;SHGC-67299;STS-N34941;UGT8;UGT8_8706;UniSTS:495858 CGT;UGT4 2-hydroxyacylsphingosine 1-beta-galactosyltransferase;OTTHUMP00000163836;OTTHUMP00000219707;UDP-galactose ceramide galactosyltransferase;UDP-galactose-ceramide galactosyltransferase;ceramide UDP-galactosyltransferase;cerebroside synthase;uridine diphosphate glycosyltransferase 8 APPROVED protein-coding ENSG00000174607 12555 03186 601291 VALIDATED 1344907 UHMK1 U2AF homology motif (UHM) kinase 1 The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 1 1 q23.3 160734279 160760468 + 162466964 162499419 + 1580863;6480464 12093740;17474147;18414510;18384876;17984092;17726090;16978587;16710414;15489334;12782393;12477932;10574929;7724523;18316326;19747464;19322201;21399567;21906983;22505724;21963094;23419774 127933 Q8TAS1 ABBA01047304;AJ536197;AK026668;AK058195;AK292369;AL137257;AL359699;AL834136;AMYH01001465;BC001977;BC014917;BC026046;BC043436;CH471067;CS300608;NM_001184763;NM_144624;NM_175866 AAH14917;AAH26046;BAF85058;BAG10683;CAD60192;CAI46199;CAK32272;EAW90706;EAW90707;EAW90708;EAW90709;NP_001171692;NP_653225;NP_787062;Q8TAS1 Hs.127310 1676742;1772089;1772091;2116367;2138377;2183778;2217524 A006A40;D2S2902;G20662;KIS_3707;RH64673;RH68936;RH98846 DKFZp434C1613;FLJ23015;KIS;KIST;P-CIP2 KIS protein kinase;OTTHUMP00000029529;PAM COOH-terminal interactor protein 2;kinase interacting with leukemia-associated gene (stathmin);serine/threonine-protein kinase Kist APPROVED protein-coding ENSG00000152332 19683 12318 608849 REVIEWED 1604632 UHRF1BP1L UHRF1 binding protein 1-like 12 12 12 q23.1 100096138 100201914 - 98954994 99060773 - 100430863 100536642 - 6480464 12477932;9734811;20163565;23275563;23422819;20360068 23074 A0JNW5;F8VRN3;F8VW65;F8VWX2;F8W1I2;F8W665;H0YHT7 AB014601;ABBA01053263;ABBA01053264;AC010203;AC126474;AK026472;AK125813;AL136821;AL833850;AMYH01004694;AMYH01004695;AMYH01004696;BC003391;BC014891;BC026286;BC127017;BX647380;CB988442;CH471054;NM_001006947;NM_015054 A0JNW5;AAH03391;AAH14891;AAH26286;AAI27018;BAA31676;CAB66755;CAD38709;CAH56181;EAW97619;EAW97620;NP_001006948;NP_055869 Hs.620701 1651601;1654227;1654942;1670582;1687091;1729317;1782568;1856306;2158120 A004U08;D12S69;G64199;RH11194;RH92731;SHGC-112041;STS-T51239;T03497;WI-11888 KIAA0701;SHIP164 OTTHUMP00000243186;OTTHUMP00000243187;OTTHUMP00000243188;UHRF1 (ICBP90) binding protein 1-like;UHRF1-binding protein 1-like;syntaxin 6Habc-interacting protein of 164 kDa protein-coding ENSG00000111647 29102 13811 VALIDATED 1316354 UHRF1BP1 UHRF1 binding protein 1 6 6 6 p21 36314255 36399721 + 34867772 34953269 + 34759794 34845291 + 6480464 15361834;14702039;14574404;12477932;22581228;19838195;21068098;21326321;23000965;23273568;23449627 54887 H7C1J4;Q6BDS2 AA287944;AB126777;ABBA01038209;ABBA01038210;ABBA01038211;AK001228;AK122918;AK127691;AL033520;AL139100;AMYH01016263;BC026164;BC137120;BC137127;BX640641;CH471081;DB636320;NM_017754 AAI37121;AAI37128;BAD32740;CAE45788;EAX03798;EAX03799;NP_060224;Q6BDS2 Hs.700656 1678539;1695874;1856094;2120070;2169383;2169471;5022578 D1S1423;RH25717;RH48133;SGC32109;SHGC-33104;SHGC-78818;WI-11718 C6orf107;FLJ20302;ICBP90;RP3-349A12.1;dJ349A12.1 CG31653-PA-like;ICBP90 binding protein 1;ICBP90-binding protein 1;OTTHUMP00000016242;UHRF1 (ICBP90) binding protein 1;UHRF1-binding protein 1;ubiquitin-like containing PHD and RING finger domains 1-binding protein 1 protein-coding ENSG00000065060 21216 12838 VALIDATED 1352913 UHRF1 ubiquitin-like with PHD and ring finger domains 1 This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.3 4860510 4913165 + 4909510 4962165 + 1580863;6480464 10646863;17934516;19491893;19328461;19270723;19077538;19056828;18945682;18772889;18005238;17967883;17673620;17081983;17067204;17065439;16964243;16344560;16195352;16007129;15964557;15361834;15178447;15146197;15057824;15033738;15009091;14993289;14702039;12838312;11290415;8889549;12477932;21611839;21296067;21268065;21045206;21808300;19798101;19800870;19851296;20198315;20613874;20037778;19943104;21067293;21214517;1868030;21351083;21745816;21489993;21539450;22219067;22939629;21777816;21252943;22411829;22285022;19471022;22055183;22064703;22096602;17370265;18781797;21139048;21890473;21906983;22100450;19322201;22552622;22837395;22294699;22330138;23245651;23023523;21963094;23000965;23107467;22286757;23463006;22505724;22945642;23022729;23537643;23281010;23297342;23161542 29128 Q9P1U7 AA026356;AB075601;AB177623;AB177624;ABBA01056030;ABBA01056031;ABBA01056032;ABBA01056033;ABBA01056034;AC027319;AC053467;AC104525;AF129507;AF220266;AF220267;AF274048;AK025578;AK074377;AK289389;AK303361;AK307239;AK314579;AMYH01009349;AY787925;BC039136;BC046179;BC113875;CH471139;CN335888;DA451120;EF560733;NG_033256;NM_001048201;NM_013282 AAF28469;AAF64067;AAI13876;AAK55744;AAV40831;ABQ59043;ABZ92323;BAB15177;BAC20576;BAF36719;BAF36720;BAF82078;BAG37156;BAG64421;EAW69187;EAW69188;EAW69189;NP_001041666;NP_037414;Q96T88 Hs.108106 1336340;1686724;2181835;5024761;5118506;7185477 D11S3374;D19S216;G22294;RH26361;RH36905 FLJ21925;ICBP90;MGC138707;Np95;RNF106;hNP95;hUHRF1 E3 ubiquitin-protein ligase UHRF1;RING finger protein 106;huNp95;inverted CCAAT box-binding protein of 90 kDa;nuclear protein 95;nuclear zinc finger protein Np95;transcription factor ICBP90;ubiquitin-like PHD and RING finger domain-containing protein 1;ubiquitin-like, containing PHD and RING finger domains, 1;ubiquitin-like-containing PHD and RING finger domains protein 1 APPROVED protein-coding 12556 06992 607990 REVIEWED 1345767 ULBP1 UL16 binding protein 1 6 6 q25 150326836 150336539 + 150285143 150294846 + 1580863;6480464 11239445;15489334;15240696;15051759;12847260;12782710;12753652;12477932;11827464;11777960;11491531;19414815;16901903;18394338;19500498;19688209;19798433;20219610;20237496;20870941;20923822;21048031;20220060;21464092;21764762;21756848;17170457;19449444;20008788;21874023;21934670;21994772;22274659;22720156 80329 Q9BZM6 AB052907;ABBA01025669;AF304377;AF346416;AF346595;AF425265;AK292519;AK316582;AL355497;AMYH01016739;BC035416;CH471051;NM_025218 AAH35416;AAK13081;AAL76416;AAN32759;AAN40838;BAB61049;BAF85208;BAG38170;EAW47776;NP_079494;Q9BZM6 Hs.653255 1699722 RH103466 RAET1I N2DL-1;NKG2D ligand 1;NKG2DL1;OTTHUMP00000017410;UL16-binding protein 1;alcan-beta;retinoic acid early transcript 1I protein-coding ENSG00000111981 14893 09297 605697 PROVISIONAL 1353152 ULBP3 UL16 binding protein 3 6 6 6 q25 151120359 151124818 - 150427436 150431895 - 150385743 150390202 - 1580863;6480464 11239445;15051759;12753652;12477932;11827464;11777960;11754823;11491531;18394338;19688209;19798433;20219610;20237496;20596022;21048031;20530255;21320692;21689246;23319000;21874023;21934670 79465 Q9BZM4 AB052908;ABBA01025668;AF304379;AF346596;AK297815;AK302076;AK315275;AL355497;AMYH01016740;AY027538;BC098127;CH471051;NM_024518 AAH98127;AAK13049;AAK13083;AAN40839;BAB61050;BAG37687;BAG60153;BAG63465;EAW47772;NP_078794;Q9BZM4 Hs.326556 5014051;5037552 D8S2278;D8S2279 RAET1N ALCAN-gamma;N2DL-3;NKG2D ligand 3;NKG2DL3;OTTHUMP00000017411;UL16-binding protein 3;retinoic acid early transcript 1N protein-coding ENSG00000131019 14895 16144 605699 PROVISIONAL 5686929 ULK4-IT1 ULK4 intronic transcript 1 (non-protein coding) p22.1 16344560 100861509 DB360966 miscrna 41413 1320632 UHRF2 ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012] 9 9 9 p24.1 6350611 6444524 + 6403151 6497051 + 6413151 6507054 + 6480464 15178429;14741369;12176013;19218238;15489334;22939629;15361834;15231748;15164053;14702039;12477932;19505873;22902639;22411829;23244124;23537643;18029348;19549727;19690564;19818775;20379614;22673569;23105109;22018986;21598301;21952639;21139048;21890473;22072112;19471022;22064703;23000965;23275563;23404503;22699663;22493164;22505724 115426 B1AL33;Q96PU4 AB071698;ABBA01065393;ABBA01065394;ABBA01065395;ABBA01065396;AF274049;AK122730;AK308433;AL133480;AL137728;AL353718;AL833522;AMYH01019207;AMYH01019208;BC028397;BG709183;CH471071;NM_152896;NR_046386 AAH28397;AAM33799;ABW03403;ABW03737;BAB68317;BAG53694;CAH10389;CAH56383;EAW58743;NP_690856;Q96PU4 Hs.493401 1647328;1739117;1852704;2118520;2178716;5021113 A008T41;D9S1629;RH36184;RH45850;SHGC-53467;WI-14338 DKFZp434B0920;DKFZp686G0837;MGC33463;NIRF;RNF107;RP11-472F14.2;URF2 E3 ubiquitin-protein ligase UHRF2;Np95-like ring finger protein;OTTHUMP00000021047;RING finger protein 107;np95/ICBP90-like RING finger protein;nuclear protein 97;nuclear zinc finger protein NP97;ubiquitin-like PHD and RING finger domain-containing protein 2;ubiquitin-like, containing PHD and RING finger domains, 2;ubiquitin-like-containing PHD and RING finger domains protein 2 APPROVED protein-coding ENSG00000147854 12557 18257 615211 REVIEWED 1601999 UIMC1 ubiquitin interaction motif containing 1 5 5 q35.2 176264612 176366049 - 176332006 176433795 - 6480464 17525341;17525342;19261749;17525340;17643121;19261748;12080054;19261746;19415121;19328070;19305427;19064572;18695986;18550271;18519686;18306035;18270812;18077395;17698038;17621610;17562356;17081983;15489334;15302935;15231748;14702039;12954732;19013454;12477932;16169070;17416745;19202061;19433585;19448621;19615732;15342556;21406551;23211528;23314748;21335604;22990118;21622030;21857162;17311814;19944020;20682791;20698691;22350954;20656689;21282113;21987572;22357538;22792303;23000965;21139048;21693764;21890473;21906983;21963094;19471022;20656690;22605335;22689573;22703881;22742833;22267201;19015238;19536136;17643122;19766185;23264621;22426463;22505724 51720 D6R9M3;D6RC40;D6RCF3;D6RCQ3;D6RDZ5;F8VQY2;Q9BZR5 ABBA01033476;ABBA01033477;ABBA01033478;AC027317;AC027318;AF113538;AF284749;AF284753;AF349313;AK023044;AK304794;AL137375;AMYH01015865;AMYH01015866;BC006078;BC032561;BP270983;BX537376;CF994701;CH471195;CS300600;EF077642;EF077644;NM_001199297;NM_001199298;NM_016290 AAF14875;AAG59851;AAG59855;AAH06078;AAH32561;AAK61871;ACE86688;ACE87372;ADZ15437;BAG51153;BAG65544;CAB70716;CAD97618;CAK32264;EAW85041;EAW85042;EAW85043;EAW85044;EAW85045;EAW85046;NP_001186226;NP_001186227;NP_057374;Q96RL1 Hs.232721 1340196;1645035;1675341;1690266;1760297;1791083;2145071;2165214;2170155;2170157 A002A19;D17S813E;D6S972;G19848;RH46284;RH98513;SHGC-132904;SHGC-56577;STS_06;WI-14295 RAP80;X2HRIP110 BRCA1-A complex subunit RAP80;OTTHUMP00000161441;OTTHUMP00000223372;OTTHUMP00000223374;receptor associated protein 80;receptor-associated protein 80;retinoid X receptor-interacting protein 110;retinoid x receptor interacting protein;ubiquitin interaction motif-containing protein 1 protein-coding ENSG00000087206 30298 11482 609433 VALIDATED 1346628 ULBP2 UL16 binding protein 2 6 6 q25 150304829 150312064 + 150263136 150270371 + 1580863;6480464 11239445;18676862;19508374;19424970;19151770;19089914;18791713;18706445;17391757;15489334;15051759;12975309;12847260;12782710;12753652;12477932;11827464;11777960;11491531;11444831;12582175;21321117;19671853;19688209;19798433;20219610;20237496;20428196;20054857;21048031;21224393;21764762;21625447;21857986;22102694;17170457;19449444;20008788;21874023;21934670;21957298;21994772;22274659 80328 Q8IZX9;Q9BZM5 AB052906;ABBA01025669;AF304378;AF321606;AK299895;AL583835;AMYH01016739;AX772820;AY026825;AY358665;BC034689;CH471051;NM_025217 AAH34689;AAK07688;AAK13082;AAN39920;AAQ89028;BAB61048;BAG61739;CAE06259;EAW47777;EAW47778;NP_079493;Q9BZM5 Hs.656778 N2DL2;RAET1H ALCAN-alpha;N2DL-2;NKG2D ligand 2;NKG2DL2;OTTHUMP00000017408;UL16-binding protein 2;retinoic acid early transcript 1 H;retinoic acid early transcript 1H protein-coding ENSG00000131015 14894 16143 605698 PROVISIONAL 1344835 ULK1 unc-51 like autophagy activating kinase 1 12 12 q24.3 130945232 130973649 + 132379279 132407707 + 1580863;1643329;4889529;6480464;6484113;6907045 15325588;20034776 11146101;9693035;18007665;16940348;17595159;19258318;19225151;19211835;18936157;17192257;17081983;15014045;14702039;12477932;11076863;9872452;8889548;17353931;22585231;20562859;19287211;19690328;21205641;21072212;21258367;21518141;21560199;22539723;23027865;21460630;21460634;21819378;22318606;21475306;22321011;21795849;22613832;23078367;23455922;23524951;20921139;22885598;23043107 8408 F5GWJ7;F5GZQ0;F5H1G7;F5H1S7;F5H2J7;F5H4E9;O75385 AB018265;ABBA01032798;ABBA01032799;AC131009;AF045458;AK095774;AK128333;AMYH01004900;AMYH01004901;BI822269;BU729635;CF131673;CH471054;HI574274;NM_003565 AAC32326;AAI11604;BAA34442;CBX47626;EAW98529;NP_003556;O75385 Hs.47061 1677722;2108631;2170571 IB2452;RH93440;ULK1_8802 ATG1;ATG1A;FLJ38455;FLJ46475;UNC51;Unc51.1;hATG1 ATG1 autophagy related 1 homolog;OTTHUMP00000237722;autophagy-related protein 1 homolog;serine/threonine-protein kinase ULK1 APPROVED protein-coding ENSG00000177169 12558 11933 603168 VALIDATED 1346964 ULK4 unc-51 like kinase 4 3 3 3 p22.1 41226416 41942816 - 41263094 41978664 - 41288090 42003660 - 737633;1580863;6480464 12477932 11829490;19430479;15489334;14702039;11181995;10737800;20379614;20414254;21045733;21832049;22939629;23502783;21909110;22120009;22318606;21988832;22945773 54986 B3KSE5;C9JVZ3;Q96C45 ABBA01024776;ABBA01024777;ABBA01024778;ABBA01024779;ABBA01024780;ABBA01024781;ABBA01024782;ABBA01024783;ABBA01024784;ABBA01024785;ABBA01024786;ABBA01024787;ABBA01024788;AC097356;AC099059;AC099537;AC104305;AC104307;AC137935;AK000581;AK093396;AK304341;AL133104;AMYH01013103;AMYH01013104;AMYH01013105;AMYH01013106;AMYH01013107;AMYH01013108;AMYH01013109;AMYH01013110;AW504756;BC014794;BC018795;BC040739;BF855180;BQ707161;BX096790;CH471055;DC417397;NM_017886 AAH14794;AAH40739;AAI60098;BAA91270;BAG52707;BAG65186;CAB61411;EAW64629;EAW64630;EAW64631;EAW64632;EAW64633;EAW64634;EAW64635;EAW64636;NP_060356;Q96C45 Hs.656192 1337745;1693708;1709634;1711172;1716091;1739305;1753131;1757711;1761809;1762529;1765121;1773697;1776714;1784906;2130294;2143742;2154030;2157729;2158501;2168498;2171209;2180902;2187767 D3S1529;D3S2407;D3S3130;D3S3152;D3S3295E;G16649;G35054;G69450;L18078;RH121010;RH45632;RH70465;SHGC-145766;SHGC-146340;SHGC-146346;SHGC-148642;SHGC-33763;SHGC-58623;SHGC-76867;SHGC-83464;SHGC-83753;SHGC-85180;SHGC-85329 DKFZp434E1822;FAM7C1;FLJ20574;REC01035 OTTHUMP00000209481;serine/threonine-protein kinase ULK4;unc-51-like kinase 4 APPROVED protein-coding ENSG00000168038 15784 07928 VALIDATED 1347776 ULK4P3 unc-51-like kinase 4 (C. elegans) pseudogene 3 15 15 q13.2 28183395 28189918 + 30395935 30423951 + 12477932;11829490 89837 AC120045;AMYH01006502;BC023564;BC071855;NR_026859 Hs.510848 D-X;FAM7A3 APPROVED pseudo ENSG00000178081 15777 VALIDATED 1320930 ULK2 unc-51 like autophagy activating kinase 2 This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008] 17 17 17 p11.2 17087510 17184615 - 19618058 19711822 - 19674143 19771239 - 4889529;6480464;6484113;6907045 20034776 18029348;19225151;16344560;16169070;15489334;15014045;14702039;12477932;10557072;9734811;20379614;20562859;18936157;14702098;21282530;21988832;21475306;22318606;23043107 9706 K7EIU2;K7EKK9;K7EP89;Q8IYT8 AB014523;ABBA01054592;ABBA01054593;ABBA01054594;ABBA01054595;AC005722;AC015726;AK098316;AK314345;AL080134;AMYH01008239;BC034988;BC039310;CH471212;DA105030;NM_001142610;NM_014683 AAH34988;BAA31598;BAG53611;EAW50910;EAW50911;EAW50912;NP_001136082;NP_055498;Q8IYT8 Hs.168762 1644828;1665739;1676352;1734400;1734460;2115059;2182468;2220618;5020946;5022200;5022578;5022651;5024413 D11S2921;D17S1378E;D17S1425E;D17S2045;D1S1423;L17877;L17971;L18426;RH46889;RH66381;RH80980;UniSTS:486037;WI-16063 ATG1B;KIAA0623;Unc51.2 OTTHUMP00000065847;OTTHUMP00000065848;serine/threonine-protein kinase ULK2 APPROVED protein-coding ENSG00000083290 13480 10556 608650 REVIEWED 1349871 ULK3 unc-51 like kinase 3 15 15 15 q24.1 52078488 52085567 - 72915512 72922605 - 75128459 75135552 - 1580863;6480464;6907045 19430479;19141860;15489334;12477932;21490707;20643644;20959405;21045733;19878745;20479155;23383273;19279323;22939629;21876539;21909115;21139048 25989 B4DFT0;H3BMW8;H3BP85;H3BPN6;H3BS27;H3BT78;H3BTS3;H3BV76;Q6PHR2 ABBA01060505;AC091230;AK075047;AK293181;AK293650;AK294241;AK294245;AK294251;AK298879;AK299380;AK316102;AL117482;AL360256;AMYH01006795;BC036117;BC048289;BC056423;BC157884;BI829133;BQ927030;CH471136;NM_001099436 AAI57885;BAG56723;BAG57102;BAG57537;BAG57541;BAG57547;BAG60995;BAG61369;BAH14473;CAB55955;CAB96176;EAW99302;EAW99304;NP_001092906;Q6PHR2 Hs.513034 1650254;1666252;1796720 D15S1197;SCAMP2_798;STS-W74766 DKFZp434C131;FLJ90566 serine/threonine-protein kinase ULK3;unc-51-like kinase 3 APPROVED protein-coding ENSG00000140474 19703 15609 613472 VALIDATED 1343211 ULK4P2 unc-51-like kinase 4 (C. elegans) pseudogene 2 15 15 q13.2 30865111 30871612 + 30864758 30892911 + 16572171;15489334;12477932;11829490 100288380 AC026150;AMYH01006503;BC137222;NR_027470 Hs.642616 D-X;FAM7A2 APPROVED pseudo ENSG00000260128 15776 VALIDATED 1353055 ULK4P1 unc-51-like kinase 4 (C. elegans) pseudogene 1 15 15 q13.3 30507687 30514189 - 32698812 32727250 - 15489334;12477932;11829490 89838 ABBA01184817;AC135983;AC139426;BC071630;BC137210;NR_026858 Hs.574255 D-X;FAM7A1 APPROVED pseudo ENSG00000261279 15775 PREDICTED 1351162 UMODL1 uromodulin-like 1 21 21 21 q22.3 28638970 28710624 + 42364495 42436174 + 43483068 43563105 + 6480464 16026467;15194491;14702039;12477932;10830953;18535602;20237496;20379614;22857148;23251661;23382691 89766 H0Y3S4;H0Y856;H0Y880;H0Y887;H0Y898;H0Y8E5;Q5DID0 AB051810;AB051811;AB096965;AB096966;AB096967;AB096968;AB096969;AB096970;AB096971;AB096972;AB096973;ABBA01014177;ABBA01014178;AK093654;AK124223;AMYH01012267;AP001620;AP001621;AP001622;AY771619;AY771620;BC039531;CH471079;NM_001004416;NM_001199527;NM_001199528;NM_173568 AAI67790;AAX14814;AAX14815;BAC04211;BAD23798;BAD23799;BAD23800;BAD23801;BAD23802;BAD23803;BAD23804;BAD23805;BAD23806;BAD23807;BAD23808;EAX09576;NP_001004416;NP_001186456;NP_001186457;NP_775839;Q5DID0 Hs.242520 1653720;1660667;2189533 SHGC-52060;Umodl1;WI-18470 OTTHUMP00000109310;OTTHUMP00000109311;OTTHUMP00000109312;OTTHUMP00000109313;olfactorin;uromodulin-like 1 protein-coding ENSG00000177398 12560 08775;15610 613859 VALIDATED 737075 UMOD uromodulin The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013] 16 16 p12.3 20251874 20271538 - 20344373 20364037 - 737832;1580863;2324705;6480464;7240710 12471200;10925066 2409603;18025791;7873609;19430482;19203555;18950917;18846391;18651238;18600511;18455532;18409531;18409515;18375198;18351395;18068104;18047931;17245395;17151335;17065110;17010121;16982955;16164624;15983957;15785410;15589826;15575003;15489334;15327389;15266028;15253706;15086896;15033942;14907962;14702039;14570881;14570709;14569098;14531790;12900848;12832729;12629136;12624657;12477932;11982485;11932463;11730273;10765940;10330352;9884403;9873244;8382593;3498215;3453112;2249987;8323280;8397318;22797727;20151160;20075439;20624112;20686651;20383146;18830570;19465746;19959715;20222955;20237496;20172860;21067798;21082022;21081491;21109754;21332338;20948228;7028707;22947327;21546974;16344560;23060289;23197950;23344472;23421394;23577616;23723338;21738052;21358122;22132988;22034507;22117067;23009031;21868615;22237754;22087292;20301530;22693617;22776760;22997256;22592667 7369 E9PEA4;I3L1A9;I3L1M3;I3L2J2;I3L2K2;I3L3E0;I3L3Z4;I3L4B0;I3L4Y6;P07911 ABBA01028278;AC106796;AK055722;AK091961;AK096043;AK127643;AK127648;AMYH01007328;AMYH01007329;AY061638;AY162970;BC035975;BF593229;BG428950;CH471186;DA634392;M15881;M17778;NG_008151;NM_001008389;NM_001278614;NM_003361 AAA36798;AAA36799;AAH35975;AAL27853;AAO64446;BAC87070;BAG51560;BAG52451;BAG53202;BAG54541;EAW50314;EAW50315;NP_001008390;NP_001265543;NP_003352;P07911 Hs.654425 1335400;1339301;1339699;1342132;1645968 D16S3036;D16S3113;D16S3217;D16S401;D16S500 ADMCKD2;FJHN;HNFJ;HNFJ1;MCKD2;THGP;THP OTTHUMP00000162212;OTTHUMP00000162213;Tamm-Horsfall glycoprotein;tamm-Horsfall urinary glycoprotein;uromodulin;uromodulin (uromucoid, Tamm-Horsfall glycoprotein);uromucoid APPROVED protein-coding ENSG00000169344 12559 11771 162000;191845;603860;609886 REVIEWED 734027 UNC13B unc-13 homolog B (C. elegans) This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008] 9 9 p13.3 35151989 35395332 + 35161989 35405332 + 1580863;6480464 9607201;10233166;19492809;18633107;16138900;15466010;15342556;14593078;12871971;12477932;12163476;11797009;11343654;10488064;9736751;9704016;9195900;8999968;16169070;19615732;19641095;20379614;22990118;21890473;21812969 10497 B1AM27;F8W8M9;O14795;Q4LE73 AB209998;ABBA01064994;ABBA01064995;ABBA01064996;ABBA01064997;AF020202;AK296836;AL160274;AL353795;AL354669;AMYH01019341;AMYH01019342;AMYH01019343;AMYH01019344;BC111781;BC111800;BP236693;CH471071;NG_033014;NM_006377 AAC19406;AAI11782;AAI11801;BAE06080;BAG59406;EAW58383;EAW58384;NP_006368;O14795 Hs.493791 1338246;1660863;1708282;1755093;1770403;1770405;2108981;2142659;5491535 A005R04;D9S1079;D9S2099;D9S761;G20429;MARC_17336-17337:1021394418:1;SHGC-142025;SHGC-79407;UNC13B_9123 MGC133279;MGC133280;MUNC13;UNC13;Unc13h2;hmunc13 OTTHUMP00000021327;OTTHUMP00000021328;UNC13-like;homolog of rat Munc13 (diacylglycerol-binding);munc13-2;munc13-2 protein;protein unc-13 homolog B;unc-13-like APPROVED protein-coding ENSG00000198722 12566 05785 605836 REVIEWED 1343859 UNC119 unc-119 homolog (C. elegans) This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.2 23897852 23903770 - 26873725 26879646 - 70051;1580863;6480464;7240710 8576185 22729960;9538874;10329014;17579091;16341674;16189514;16169070;15489334;14757743;14702039;12527357;12496276;12477932;11303027;9761287;20801516;19592652;19781630;20220094;22960633;21712387;21642972;21697133;22990118;21900206;23072788;22123847 9094 C9JSK0;J3QQT8;K7EJU3;K7EN86;Q13432 AB593014;ABBA01015054;AC005726;AF028788;AF028789;AF125997;AF125998;AK124531;AK292329;AMYH01008279;BC027176;BM848267;BX641031;BX647747;BX648530;CH471159;NG_012302;NM_005148;NM_054035;U40998 AAC50360;AAD01875;AAD01876;AAD31422;AAH27176;BAF85018;BAG54049;BAJ83969;CAE46019;EAW51093;EAW51094;EAW51095;EAW51096;EAW51097;EAW51098;NP_005139;NP_473376;Q13432 Hs.410455 1663292;1686344;1689640;1778430;2108633 D17S2156;G20535;RH12447;RH17002;UNC119_8895 HRG4;POC7;POC7A OTTHUMP00000163438;OTTHUMP00000163439;OTTHUMP00000163440;POC7 centriolar protein homolog A;protein unc-119 homolog A;retinal protein 4 APPROVED protein-coding ENSG00000109103 12565 04927 604011 REVIEWED 1354378 UNC13C unc-13 homolog C (C. elegans) 15 15 15 q21.3 31200300 31816005 + 52092393 52708098 + 54305101 54920806 + 1580863;6480464 22542470;19240061;18519826;14702039;12477932;17903293;19734545;20379614 440279 F5H090;F5H7F0;H0YL13;H3BRP8;Q8NB66 ABBA01039037;ABBA01039038;ABBA01039039;ABBA01039040;AC010867;AC022302;AC034103;AC068711;AK054981;AK091491;AK293996;AL834407;AMYH01006658;AMYH01006659;AMYH01006660;AMYH01006661;AMYH01006662;AMYH01006663;AMYH01006664;BC036420;BC039494;BC040740;NM_001080534 AAH40740;AAI56425;BAB70836;BAC03675;BAG57359;CAD39069;NP_001074003;Q8NB66 Hs.657273 1654426;1690141;1703446;1703452;1706852;1708712;1755611;1763701;1789156;1982002;2075770;2120008;2145370;2147497;2171314;2182271;5494151 D15S1282;D15S1315;G65711;REN109087;REN61901;RH1643;RH77836;RH94172;SHGC-142463;SHGC-147375;SHGC-80909;SHGC-81502;SHGC-82532;SHGC-82558;STS-Z41286;WI-20508;fb57b01 DKFZp547H074 Munc13-3;protein unc-13 homolog C;unc-13-like 3 protein-coding ENSG00000137766 23149 614568 PROVISIONAL 1323612 UMPS uridine monophosphate synthetase This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] 3 3 q13 125931903 125946318 + 124449213 124468120 + 1580863;1599702;5132591;5133412;5132278;6480464;6907045;7240710 9042911;1476792;15096496;3907307 6893554;11730338;15890648;19332728;19307741;19082440;19074750;19020767;19020740;18949394;18633253;18597678;17854773;17607371;17549346;17237621;16818689;16328050;16169070;16142362;15999119;15489334;14562021;12477932;8069469;6574608;3279416;2767686;2624233;21145461;20527751;20647221;20665215;17505114;18184586;19615732;19724871;20112501;20453000;20647710;22641663;19562503;21163940;22939629;21139048;21906983;17623298;21631301;21963094;21988832;22931617 7372 A8K5J1;E9PFD2;F2Z303;F2Z3P2;F8WDG4;Q9UG49 AB041359;AB062285;ABBA01016433;AC022336;AK291306;AL080099;AMYH01013438;AY691629;BC000364;BC007511;CH471052;CR456787;D86227;D86228;D86230;EU921886;EU921887;EU921888;EU921889;EU921890;EU921891;EU921892;EU921893;EU921894;EU921895;J03626;M36661;NG_017037;NM_000373;NR_033434;NR_033437 AAA61255;AAA61256;AAH00364;AAH07511;AAT85801;ACE86911;ACE87598;ACH48224;ACH48225;ACH48226;ACH48227;ACH48228;ACH48229;ACH48230;ACH48231;ACH48232;ACH48233;BAA19920;BAA19921;BAA19923;BAB20663;BAB93468;BAF83995;CAB45710;CAG33068;EAW79407;EAW79408;NP_000364;P11172 Hs.2057 1648538;1651629;1685267;1709530;1772083;1797022;1850473;2129189;5022578 D1S1423;RH47989;RH65688;RH69886;SHGC-30469;SHGC-81841;STS-J03626;STS-W56547;UMPS_1123 OPRT OMPdecase;OPRTase;OTTHUMP00000215261;OTTHUMP00000215266;UMP synthase;orotate phosphoribosyltransferase;orotidine 5'-phosphate decarboxylase;uridine 5'-monophosphate synthase;uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) APPROVED protein-coding 12563 02022 258900;613891 REVIEWED 1345863 UNC119B unc-119 homolog B (C. elegans) 12 12 12 q24.31 120782096 120795706 + 119632214 119645826 + 121147831 121161443 + 6480464 16751776;16541075;15489334;14702039;12477932;11181995;19913121;20628086;22939629;21886157 84747 A6NIH7;Q69YW6 ABBA01020134;AC069234;AK057021;AK126367;AL137327;AMYH01004803;AMYH01004804;BC004815;BC070088;CH471054;DA324219;NM_001080533 A6NIH7;AAH04815;ABM84260;ABM87649;ABM87661;ABW03603;ABW03606;BAG54314;CAH10700;EAW98215;EAW98216;EAW98217;NP_001074002 Hs.127610 1683715;1727451;1767393;2140927 A007C39;G15658;G62983;RH44866 MGC5139;POC7B OTTHUMP00000240401;POC7 centriolar protein homolog B;protein unc-119 homolog B;unc119 homolog B protein-coding ENSG00000175970 16488 VALIDATED 1345956 UNC13A unc-13 homolog A (C. elegans) This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012] 19 19 19 p13.11 17613819 17700754 - 17573137 17660401 - 17712137 17799008 - 1580863;2311087;5686384;5686382;5686390;6480464 19295123;19734901;20385924;18787382 15123597;14702039;12871971;10470851;14734538;12477932;16344560;20379614;19996097;22118904;22248876;12421765;22921269;22959728;23251661 23025 F8VZH8;F8W059;F8W0P6;H7BXE5;J3KQI7;Q9UPW8 AB028955;ABBA01051217;ABBA01051218;ABBA01051219;ABBA01051220;AC008761;AK055065;AMYH01009575;BC011004;DA236619;NM_001080421;R60139 AAI72223;BAA82984;NP_001073890;Q9UPW8 Hs.164502 1711230;1847153;1847155;5018935;5022578;5022651 A006C03;D11S2921;D1S1423;G20690;RH15984;SHGC-89041 KIAA1032;Munc13-1 OTTHUMP00000225261;OTTHUMP00000240856;OTTHUMP00000240857;OTTHUMP00000240858;protein unc-13 homolog A APPROVED protein-coding ENSG00000130477 23150 609894 REVIEWED 7240921 UNC5B-AS1 UNC5B antisense RNA 1 10 q22.1 72976981 72977985 - 11181995 728978 ABBA01019638;AI871120;AL359384;AL359832;AMYH01002815;CH471083;CK819868;NR_038453 EAW54422 Hs.646725 miscrna ENSG00000237512 45096 VALIDATED 1343022 UNC50 unc-50 homolog (C. elegans) 2 2 2 q11.2 93428766 93438703 + 98591474 98601410 + 99225042 99234978 + 634436;6480464 10980252 17004066;12477932;11230166;11042152;8125298;17207965;21139048;21890473 25972 H7BYK3;H7C3J5;J3KQ47;Q53HI1 ABBA01073966;AC010134;AC064860;AF077038;AK222599;AL080115;AMYH01010797;AY017215;AY251534;BC017019;BC025992;BC039078;BC091481;CH471127;CR533464;NM_014044 AAD27771;AAH17019;AAH25992;AAH39078;AAH91481;AAK08987;AAP20057;AAX93232;AAY14975;ADQ31836;BAD96319;CAB45714;CAG38495;EAX01900;EAX01901;EAX01902;NP_054763;Q53HI1 Hs.13370 1734994;2116321;5491276 A004H48;D2S1730E;MARC_7289-7290:992008307:1 DKFZp564G0222;GMH1;HSD23;UNCL;URP OTTHUMP00000161121;OTTHUMP00000203134;OTTHUMP00000203135;PDLs22;geal-6 membrane-associated high-copy suppressor 1;hGMH1;periodontal ligament-specific protein 22;protein GMH1 homolog;protein unc-50 homolog;unc-50 related;uncoordinated-like protein protein-coding ENSG00000115446 16046 18259 VALIDATED 1604204 UNC13D unc-13 homolog D (C. elegans) This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008] 17 17 q25.1 71334901 71352393 - 73823306 73840798 - 6480464;7240710 19131769;18759271;18710388;18492689;18453599;18432499;18311812;18240215;17993578;16825436;16778144;16630545;16278825;15489334;15466010;14702039;14699162;14622600;12477932;11214971;20015888;21370424;15548590;16248985;17237785;19120489;19704116;22863883;22939629;21646258;19966785;21693760;21755595;21881043;21931115;21139048;21674762;21890473;21987572;22271450;20301617;22508512;23180437 201294 K7EIH3;K7ELN2;K7EM66;K7EMK8;K7EN29;K7EN81;K7EQ37;Q70J99 ABBA01028767;ABBA01028768;AC087289;AJ578444;AK024474;AK300316;AK301529;AMYH01008635;AW451853;BC024740;BC067084;CH471099;NG_007266;NM_199242 AAH67084;ACE86429;ACE87104;BAB15764;BAG62068;BAG63031;CAE17516;EAW89322;EAW89323;EAW89324;NP_954712;Q70J99 Hs.41045 1694466;2110035;5015619;5022578;5024039;5037552;5118444 D11S3114;D11S3316;D16S325;D1S1423;D8S2279;G42954;WBP2_9370 FHL3;HLH3;HPLH3;Munc13-4 protein unc-13 homolog D APPROVED protein-coding ENSG00000092929 23147 10598 608897;608898 REVIEWED 1319479 UNC5D unc-5 homolog D (C. elegans) 8 8 8 p12 34042678 34602076 + 35521452 35771722 + 35092975 35652181 + 6480464 18402767;16368877;15302935;15142956;12975309;20379614 137970 C9J1I0;C9J2B6;E9PDS8;H7BXJ2;Q6UXZ4 AB055056;ABBA01023584;ABBA01023585;ABBA01023586;ABBA01023587;ABBA01023588;AC012215;AC013302;AC090740;AC099685;AC104049;AC105230;AK122610;AK122615;AMYH01018640;AMYH01018641;AMYH01018642;AMYH01018643;AY358147;BY798317;CH471080;NM_080872 AAI56114;AAI56909;AAQ88514;BAB83663;BAG53621;EAW63381;EAW63382;EAW63383;NP_543148;Q6UXZ4 Hs.238889 1336784;1338554;1338780;1340253;1340289;1341882;1648028;1660381;1664897;1666317;1706402;1708956;1710286;1712032;1717393;1728975;1745983;1754509;1855674;2136411;2150234;2218630;7185570 AFMB283XF1;D14S1004;D5Bwg0676e;D8S1486;D8S1719;D8S1750;D8S1766;D8S1777;D8S2007;D8S2093;D8S87;G32124;RH118713;RH122187;RH125247;SHGC-132781;SHGC-32224;SHGC-4695;SHGC-79535;SHGC-80775;SHGC-85240;UNC5D__5007 FLJ16019;KIAA1777;PRO34692;Unc5h4 OTTHUMP00000211533;OTTHUMP00000211534;OTTHUMP00000211542;OTTHUMP00000211543;OTTHUMP00000211544;netrin receptor UNC5D;netrin receptor Unc5h4;protein unc-5 homolog 4;protein unc-5 homolog D;unc-5 homolog 4 protein-coding ENSG00000156687 18634 11661 VALIDATED 736493 UNC5B unc-5 homolog B (C. elegans) This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] 10 10 q22.1 72642353 72729722 + 72972292 73062635 + 1580863;6480464 18469807;19570425;19273616;18719102;15729359;15342556;14702039;12975309;12655055;12598906;12477932;12359238;12107411;16385451;18839057;19822088;19826074;20379614;21172653;20092749;21238923;16344560;22252496;21922135;23599441;21906983;22951725;23526078;23312517 219699 Q8IZJ1 AB096256;ABBA01019638;AK022859;AK094595;AK128132;AL049370;AL359384;AL359832;AMYH01002815;AY126437;AY358351;BP344031;BQ638420;CH471083;DA810535;DR003631;NM_001244889;NM_170744 AAI66694;AAM95701;AAQ88717;BAB14276;BAC04382;BAC57998;BAG54634;EAW54420;EAW54421;NP_001231818;NP_734465;Q8IZJ1 Hs.522997 1336756;1676910;1722303;1731012;2143806;2153761;5491555 A007B32;D10S1759;D10S363;D5S1944;G60066;MARC_17640-17641:1019145113:1;SHGC-56950 UNC5H2;p53RDL1 OTTHUMP00000019771;OTTHUMP00000019772;netrin receptor UNC5B;p53-regulated receptor for death and life protein 1;protein unc-5 homolog 2;protein unc-5 homolog B;transmembrane receptor Unc5H2;unc-5 homolog 2 APPROVED protein-coding ENSG00000107731 12568 08487 607870 VALIDATED 1313830 UNC45B unc-45 homolog B (C. elegans) UNC45B plays a role in myoblast fusion and sarcomere organization (Price et al., 2002 [PubMed 12356907]).[supplied by OMIM, Mar 2008] 17 17 17 q12 30385024 30426539 + 30498949 30540477 + 33474836 33516364 + 1580863;6480464 15489334;14702039;12477932;12356907;20379614 146862 Q8IWX7 ABBA01011228;AC022916;AF539794;AK095929;AL832355;AL833281;AMYH01008353;BC101062;BC101063;BX647642;CH471147;NM_001033576;NM_001267052;NM_173167 AAI01063;AAI01064;AAO13384;EAW80162;EAW80163;EAW80164;NP_001028748;NP_001253981;NP_775259;Q8IWX7 Hs.379636 1674351;1699368;1791243;1791245 AA445617;RH103271;STS-AA039430;UniSTS:259446 CMYA4;FLJ38610;MGC119540;MGC119541;SMUNC45;UNC45 OTTHUMP00000163855;UNC-45B;cardiomyopathy associated 4;protein unc-45 homolog B;striated muscle UNC45 APPROVED protein-coding ENSG00000141161 14304 10840 611220 VALIDATED 1322833 UNC79 unc-79 homolog (C. elegans) 14 14 14 q32.12 73853579 74227697 + 92869318 93243442 + 93799565 94173689 + 6480464 14702039;10718198;17353931;20158304;20379614;20714347;21040849;23314748 57578 B5MDL6;G3V2U4;G3V3Q1;Q9P2D8 AB037830;ABBA01030429;ABBA01030430;ABBA01030431;ABBA01030432;AK090721;AK125327;AK126626;AL122023;AL136338;AL157858;AMYH01005965;AMYH01005966;AMYH01005967;BX649040;CH471061;NM_020818 BAA92647;BAC86131;EAW81531;NP_065869;Q9P2D8 Hs.126561 1667223;1669752;1669754;1669814;1679818;1686552;1699086;1710716;1736436;1758483;1776104;1846799;1850177;1855336;2117800;2121251;2126753;2131336;2139914;2145258;2146761;2149753;2157646;2158824;2168919;2172077 043XE3;A005E15;A006H05;B362XB1;D14S1147;D14S1156;D14S700E;D14S772;D14S969;G20797;G35407;G35446;G35719;G35792;G35808;G35942;G36027;G36147;G36176;RH103119;RH48317;RH81028;RH93903;SHGC-148441;SHGC-83687;WI-14655 FLJ43337;KIAA1409 OTTHUMP00000028391;OTTHUMP00000070354;OTTHUMP00000245722;OTTHUMP00000245723;protein unc-79 homolog APPROVED protein-coding ENSG00000133958 19966 11143 VALIDATED 1603630 UNC45A unc-45 homolog A (C. elegans) UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM, Mar 2008] 15 15 15 q26.1 67882608 67906541 + 89274414 89298327 + 91473410 91497323 + 6480464 17353931;18285346;17872978;17081983;16478993;15489334;15231748;14702039;12477932;12356907;20562859;19615732;21182205;22863883;19875381;23106098;22939629;21802425;21139048;21890473;21906983;20473970;22190034;22505724 55898 Q9H3U1 AB014729;AB014736;ABBA01053071;ABBA01053072;ABBA01053073;AC068831;AK000905;AK125523;AK125721;AK291622;AK293538;AK296964;AK302979;AL357532;AL357537;AL357538;AMYH01006924;BC006214;BC010995;BC037992;BC045635;CH471101;NM_001039675;NM_018671 AAH06214;AAH10995;AAH37992;AAH45635;ABM83879;ABM87199;BAA91418;BAB20266;BAB20273;BAF84311;BAG54239;BAG57020;BAG59508;BAG64122;CAB93428;CAB93429;EAX02127;EAX02128;EAX02129;NP_001034764;NP_061141;Q9H3U1 Hs.389461 1740613;2112938;2181939;2218032;5015861;5024756;7185938 D10S16;D15S1152;D15S1226;D15S1394E;RH80030;SMAP-1_3653 FLJ10043;GC-UNC45;GCUNC-45;GCUNC45;IRO039700;SMAP-1;SMAP1 OTTHUMP00000180562;OTTHUMP00000180563;UNC-45A;general cell UNC45;protein unc-45 homolog A;smooth muscle cell associated protein-1;smooth muscle cell-associated protein 1 APPROVED protein-coding ENSG00000140553 30594 18070 611219 VALIDATED 1344019 UNC5A unc-5 homolog A (C. elegans) UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004] 5 5 5 q35.2 172194323 172263415 - 176170166 176240505 + 176237560 176307899 + 6480464 15573119;15489334;14702039;12655055;12598906;12477932;11853319;8889548;12598531;12810718;15729359;19913121;20628086;20372800;17174565 90249 H0Y8R2;H0Y9G2;Q6ZN44 AB075856;ABBA01033478;ABBA01033479;ABBA01033480;ABBA01033481;ABBA01033482;AC027318;AC091897;AC091902;AK131380;AMYH01015865;BC009333;BC033727;BC122556;BC157824;BI818609;BM712478;CH471195;NM_133369 AAH09333;AAH33727;AAI22557;AAI57825;AAI67811;BAB85562;BAD18531;EAW85050;EAW85051;EAW85052;NP_588610;Q6ZN44 Hs.33191 1757419;1761519;1761533;1791081;1848726;2118070;2128095 RH78677;SHGC-144806;SHGC-145520;SHGC-145534;STS-R17757;STS_04;WI-21074 FLJ16449;KIAA1976;UNC5H1 OTTHUMP00000223365;netrin receptor UNC5A;netrin receptor Unc5h1;protein unc-5 homolog 1;protein unc-5 homolog A;unc-5 homolog 1;unc5 (C.elegans homolog) a APPROVED protein-coding ENSG00000113763 12567 607869 VALIDATED 2290519 UNC93B3 unc-93 homolog B3 pseudogene (C. elegans) 3 3 3 p12.3 76411926 76416736 - 75750877 75755744 - 75668191 75673001 - 11867227;23314748 285296 ABBA01030989;AC108724;AMYH01013292;NG_009695 UNC93B3P pseudo 13483 INFERRED 2293163 UNC93B2 unc-93 homolog B2 pseudogene (C. elegans) 7 7 7 p22.1 6868187 6869339 - 6861195 6873891 - 6894674 6899461 - 12853948;11867227 641922 A6NGZ7 ABBA01056512;AC079804;AMYH01017055;NG_013106 A6NGZ7 UNC93B2P pseudo 13482 INFERRED 2292102 UNC93B4 unc-93 homolog B4 pseudogene (C. elegans) 4 4 4 p16.3 4044955 4047168 - 4195639 4198737 - 4147309 4149522 - 11867227;9847074 643384 ABBA01008242;AC011744;AMYH01013900;NG_009674 pseudo 13484 INFERRED 4143688 UNC93B5 unc-93 homolog B5 pseudogene (C. elegans) 11 11 11 q13.2 64811447 64816731 - 67235300 67240149 - 67478726 67483477 - 729196 ABBA01024026;AMYH01003748;AP003385;NG_028989 unc-93 homolog B5 (C. elegans);unc-93 homolog B5 pseudogene APPROVED pseudo 34051 INFERRED 2292185 UNC93B6 unc-93 homolog B6 (C. elegans) 11 11 11 q13.4 68613514 68618394 + 70991858 70996738 + 71314210 71319090 + 255620 ABBA01017551;AMYH01003788;AP000867;NG_009705 pseudo 34053 INFERRED 6483992 UNC93B7 unc-93 homolog B7 pseudogene (C. elegans) 4 9495379 9500149 + 9847074 100887746 ABBA01032500;AC116655;AMYH01013987;NG_032765 pseudo 44036 INFERRED 6483993 UNC93B8 unc-93 homolog B8 pseudogene (C. elegans) 4 8961354 8965527 + 9847074 100887748 ABBA01016353;AC073648;AMYH01013937;NG_032767 pseudo 44037 INFERRED 1342658 UNC5CL unc-5 homolog C (C. elegans)-like 6 6 6 p21.1 42547321 42559619 - 41102749 41114906 - 40994640 41006938 - 6480464 22158417;14769797;12477932;21642993 222643 H8YHX0;Q8IV45 ABBA01050761;AI791395;AL031778;AMYH01016291;AY510109;BC035284;BM312066;CH471081;JF681947;NM_173561 AAH35284;AAS80165;AEB96256;EAX04007;NP_775832;Q8IV45 Hs.158357 1739547 D6S1523 MGC34763;MUXA;ZUD OTTHUMP00000016362;UNC5C-like protein;ZU5 and death domain containing;ZU5 and death domain-containing protein;protein unc-5 homolog C-like protein-coding ENSG00000124602 21203 09844 VALIDATED 1349423 UNGP1 uracil-DNA glycosylase pseudogene 1 16 16 16 q12.1 35827650 35828681 + 49870086 49871117 + 51312585 51313616 + 8694824 57004 ABBA01066462;AC137527;AMYH01007668;NG_001287;X92985 1692910 AL034167 pseudo 18579 INFERRED 1626690 UNCX UNC homeobox 7 7 7 p22.3 1234813 1238773 + 1239180 1243139 + 1272654 1276613 + 6480464 12853948;12690205;11181995;22797727 340260 A6NJT0 AACC02000051;AACC02000052;ABBA01039326;AC073094;AMYH01016955;AMYH01016956;CH236953;CH471144;NM_001080461 A6NJT0;EAL23940;EAW87199;NP_001073930 Hs.232272 UNCX4.1 OTTHUMP00000201010;Unc4.1 homeobox;homeobox protein Uncx4.1;homeobox protein unc-4 homolog protein-coding 33194 PROVISIONAL 1349949 UNGP2 uracil-DNA glycosylase pseudogene 2 14 14 14 q12 7259054 7259680 - 26464480 26465106 - 27394640 27395266 - 8694824 57005 ABBA01061365;AL110292;AMYH01005622;NG_001288;X92986 1651044 RH15692 pseudo 18580 INFERRED 1351551 UNGP3 uracil-DNA glycosylase pseudogene 3 14 14 14 q31.1 61764600 61766493 - 80793917 80796368 - 81724683 81726575 - 319122 ABBA01030610;AC010582;AL136040;AMYH01005904;NG_002503 1698598;1731639;2143063 D14S188;G35576;RH102852 pseudo 20036 INFERRED 1347353 UNC5C unc-5 homolog C (C. elegans) This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008] 4 4 q21-q23 96308712 96689185 - 96083655 96470361 - 634450;1580863;6480464 9126742 9782087;19475631;19331160;19242752;18628988;18054557;17967459;16371650;15729359;15574733;15489334;12810718;12655055;12477932;11213262;11103947;14702039;20932310;19822088;19850283;20032384;20201926;20379614;21600761;21893118;23251661;22685302;23178624 8633 A8K385;D6RE16;E0CX15;O95185 ABBA01063631;ABBA01063632;ABBA01063633;AC097656;AC098584;AC105395;AC106881;AF055634;AK022487;AK290500;AK308421;AMYH01014408;BC034747;BC041156;BX538341;CH471057;NM_003728 AAC67491;AAH41156;AAY41022;BAF83189;EAX06061;EAX06062;NP_003719;O95185 Hs.388565 1659533;1661410;1661412;1686967;1691264;1699258;1704096;1708404;1717305;1718431;1719861;1727863;1770305;1854841;2113494;2141709;2143998;2149753;2161737;2176647;2218628 BZ897709;D4S470;G33627;G35942;G63348;RH103210;RH122143;RH122417;RH123625;RH93750;SHGC-19072;SHGC-24799;SHGC-50331;SHGC-51503;SHGC-67342;SHGC-83368;SHGC-83484;SHGC-8648;STS-N34287;STS-T51283;UNC5C__5006 UNC5H3 OTTHUMP00000161619;OTTHUMP00000219358;homolog of C. elegans transmembrane receptor Unc5;netrin receptor UNC5C;protein unc-5 homolog 3;protein unc-5 homolog C;unc-5 homolog 3;unc5 (C.elegans homolog) c APPROVED protein-coding ENSG00000182168 12569 04678 603610 REVIEWED 4108091 UNQ5830 AILT5830 2 p25.1 10061078 10061365 - 12975309 400943 Q6UY13 AC010969;AY358123;AY358741;XR_041686;XR_041687;XR_041688 AAQ88490;AAQ89101;Q6UY13 Hs.526504 miscrna 15618 1343488 UOX urate oxidase, pseudogene Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq, Jul 2008] 1 1 1 p22 83074869 83107791 - 84603229 84636164 - 84830641 84863576 - 6480464 18085818;11961098;11700027;2403354;1556746;1395718;20210993;22095909 391051 AB074093;AB074326;ABBA01045656;ABBA01045657;AI208826;AL359273;AMYH01000752;NR_003927;S94095 Hs.647646 1338001;2190627 D1S2889;UOX UOXP;URICASE APPROVED pseudo 12575 191540 VALIDATED 1319446 UNK unkempt homolog (Drosophila) 17 17 17 q25.1 70370731 70411935 + 71292276 71333481 + 73780920 73821886 + 737633;1580863;6480464 12477932 16094384;15489334;15302935;11214970;22939629;16713569 85451 K7EIZ1;K7ELF5;K7EMB1;K7EQ93;K7EQJ1;Q9C0B0 AB051540;ABBA01028768;ABBA01028769;ABBA01028770;ABBA01028771;AC087289;AI290733;AK307289;AMYH01008635;BC033751;BC038802;BC039606;BC046175;BC053362;BC064927;BC080657;CH471099;NM_001080419;NR_038131 AAH53362;BAB21844;EAW89320;EAW89321;NP_001073888;Q9C0B0 Hs.584768;Hs.732048 1340537;1658808;1662482;1678179;1757167;1773248 D17S1839;RH18221;RH47803;RH94321;SHGC-144594;SHGC-33699 KIAA1753;ZC3H5;ZC3HDC5 RING finger protein unkempt homolog;zinc finger CCCH domain-containing protein 5;zinc finger CCCH-type containing 5;zinc finger CCCH-type domain containing 5 protein-coding ENSG00000132478 29369 VALIDATED 1343732 UNC93A unc-93 homolog A (C. elegans) 6 6 6 q27 168447509 168472228 + 167624891 167649491 + 167704803 167729502 + 1580863;6480464 12381271;14702039;14574404;12477932 54346 D6RFH7;Q86WB7 ABBA01033433;AJ422141;AJ508812;AK091987;AL021331;AMYH01016856;BC098248;BC099718;BC105635;CH471051;NM_001143947;NM_018974 AAH98248;AAH99718;AAI05636;BAG52457;CAD19521;CAD48541;EAW47499;EAW47500;EAW47501;NP_001137419;NP_061847;Q86WB7 Hs.567508 1774107;1791978;1791980;1791982;1791984;1791986;1791988;1791990;1791992;2165375;2168452;2219746 A007I36;D6S1440;PMC134458P1;PMC134458P2;PMC134458P3;PMC134458P4;PMC134458P5;PMC134458P6;PMC134458P7;PMC134458P8;RH46854;UNC93A__5008 MGC119395;MGC119397;Unc-93A;dJ366N23.1;dJ366N23.2 OTTHUMP00000017623;OTTHUMP00000220557;dJ366N23.1 (putative C. elegans UNC-93 (protein 1, C46F11.1) LIKE);dJ366N23.2 (putative C. elegans UNC-93 (protein 1, C46F11.1) C-terminal LIKE);hmUNC-93A;protein unc-93 homolog A;unc93 homolog A protein-coding ENSG00000112494 12570 12148 607995 VALIDATED 1350674 UNC80 unc-80 homolog (C. elegans) 2 2 2 q35 204404518 204632058 + 210344962 210369516 + 210636717 210864024 + 6480464 14702039;19092807;18336069;17825559;16344560;21145461;12477932;12168954;11347906;10737800;9847074;19535918;22939629 285175 C9J1U3;H3BLU5;Q8N2C7 AB058746;ABBA01062730;ABBA01062731;ABBA01062732;AC006385;AC006464;AC007038;AK027583;AK090815;AK299022;AK302830;AMYH01011460;AMYH01011461;BC136690;BC136693;CH471063;CR748860;CV392610;DA147023;DB301313;DN990286;DW009748;DW010027;DY654424;NM_032504;NM_182587 AAI36691;AAI36694;BAB47472;BAB55211;BAC03521;BAG61101;BAG64025;EAW70465;EAW70466;EAW70467;EAW70468;EAW70469;EAW70470;NP_115893;NP_872393;Q8N2C7 Hs.396201 1336917;1652063;1666842;1673540;1734982;2113922 AB049879;B299WB5;D2S1724E;D2S322;SHGC-61988;WI-15052 C2orf21;FLJ14677;FLJ33496;FLJ53903;KIAA1843;UNC-80 OTTHUMP00000206605;WUGSC:H_NH0436C12.1;protein unc-80 homolog protein-coding ENSG00000144406 26582 12809 612636 VALIDATED 734439 UPB1 ureidopropionase, beta This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 8690987 8722274 + 23221251 23252553 + 24891251 24922553 + 1624989;1300048;1580863;6480464;6907045;7240710 7626590 15385443;10542323;18216719;18075467;17065070;15461802;14702039;12477932;11508704;3931905;19913121;20628086;23238479;22525402 51733 B3KNC1;E7EUZ5;F8WC94;Q6AHZ8;Q9UBR1 AB013885;ABBA01055138;AF163312;AF169559;AK024277;AK314727;AMYH01012666;AP000355;BC033388;BC131703;BC139843;BX537493;CH471095;CR456375;CR627429;NG_012858;NM_016327 AAF06735;AAF06739;AAI31704;AAI39841;AAI39844;BAA88634;BAG37269;BAG51283;CAG30261;CAH10516;CAI46015;CAK54511;CAK54810;EAW59662;EAW59663;EAW59664;NP_057411;Q9UBR1 Hs.731656 1335844;1659212;1671364;1687447;1777331;5022450;5037552;5109281;5109283 D10S275;D1S1425;D1S1431;D22S156;D8S2279;HSC1IC042;SGC33315;STS-T67940;WIAF-2537 BUP1 BUP-1;OTTHUMP00000198407;beta-alanine synthase;beta-ureidopropionase;n-carbamoyl-beta-alanine amidohydrolase APPROVED protein-coding ENSG00000100024 16297 09451 606673;613161 REVIEWED 3519867 UPF3AP1 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 1 17 17 p11.2 16588581 16591026 - 16648054 16650076 - 11997339 147226 AC022596;AC098850;AMYH01008152;NG_001548 2183911 SHGC-64094 pseudo 30568 INFERRED 1323726 UNC93B1 unc-93 homolog B1 (C. elegans) This gene encodes a protein with similarity to the C. elegans unc93 protein. The Unc93 protein is involved in the regulation or coordination of muscle contraction in the worm. [provided by RefSeq, Jul 2008] 11 11 q13 67515151 67528169 - 67758575 67771593 - 1580863;5685014;6480464;7240710 21235323 22164301;19006693;18241724;18082565;16973841;16554811;16111919;15489334;12477932;11867227;9847074;9110174;8889548;8619474;19120473;19120481;23002119;23166319;21173679;21903422;22611194;21890473;21906983;21987572 81622 E9PI69;E9PNE5;E9PR93;Q05BS6;Q58F16;Q9H1C4 ABBA01024020;AC004923;AJ271326;AJ422142;AMYH01003752;AMYH01003753;AY007125;BC025669;BC033623;BC092472;BC101568;BC105104;BM980538;BU622714;CH471076;NG_007581;NM_030930 AAD15416;AAH25669;AAH33623;AAH92472;AAI01569;AAI05105;CAC19791;CAD19522;EAW74676;EAW74677;NP_112192;Q9H1C4 Hs.502989 5113423 RH80355 IIAE1;MGC126617;UNC93;UNC93B;Unc-93B1 hUNC93B1;protein unc-93 homolog B1;unc-93 related protein;unc93 homolog B;unc93 homolog B1 APPROVED protein-coding ENSG00000110057 13481 12191 608204;610551 REVIEWED 3542881 UPF3AP2 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2 17 17 p11.2 20218623 20220905 - 20278129 20280151 - 11997339 147150 AC008088;AMYH01008239;NG_001546 2183911 SHGC-64094 pseudo 30567 INFERRED 3497314 UPF3AP3 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 3 9 9 73273988 73274817 - 102760586 102761415 - 100422343 ABBA01042894;AL360084;AMYH01021568;NG_021629 pseudo 38395 INFERRED 1604323 UNKL unkempt homolog (Drosophila)-like This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013] 16 16 16 p13.3 1627320 1677303 - 1353207 1404701 - 1413206 1464705 - 6480464 16344560;16341674;15761153;15616553;15489334;14702039;12477932;11181995;11157797;8889548;1339381;20148946 64718 D6RA68;E2QRG9;E9PDK2;Q9H9P5 ABBA01030309;ABBA01030310;AE006467;AK022685;AK024842;AK027013;AK124977;AL031709;AL031721;AL032819;AM944365;AMYH01007032;AMYH01007033;AMYH01007034;AW971542;BC000150;BC011924;BI751989;BM763288;BQ776895;BU431187;BU633778;CB988960;CF136587;CH471112;DA558634;DA739764;HY086058;NG_033129;NM_001037125;NM_001193388;NM_001193389;NM_001276414;NM_023076 AAH00150;AAH11924;AAK61278;AAK61279;BAB14178;BAB15626;CAQ16184;EAW85659;EAW85660;EAW85661;EAW85662;EAW85663;EAW85664;NP_001032202;NP_001180317;NP_001180318;NP_001263343;NP_075564;Q9H9P5 Hs.643536;Hs.745452 1670734;1670736;1719605;2106737;5022578;5109281 D1S1423;D1S1425;RH11799;RH123707;SHGC-61167;UNKL__5009 C16orf28;FLJ12623;FLJ23360;KIAA0734;MGC5179;ZC3H5L;ZC3HDC5L OTTHUMP00000158652;OTTHUMP00000158653;OTTHUMP00000158698;OTTHUMP00000219065;OTTHUMP00000219075;RING finger protein unkempt-like;putative E3 ubiquitin-protein ligase UNKL;unkempt-like;zinc finger CCCH domain-containing protein 5-like protein-coding ENSG00000059145 14184 15612 REVIEWED 1316252 UNG uracil-DNA glycosylase This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010] 12 12 q23-q24.1 108019798 108033181 + 109535399 109548798 + 1599705;1580863;6480464;6907045;7240710 12958596 7671300;9016624;10805771;19403629;19237606;18973764;18760480;18270339;18196298;18079698;18004790;17704764;17537817;17360488;17272283;17101234;17081983;17029639;16951200;16928741;16216562;21959147;15970468;15967827;15489334;15339922;15327777;15302935;15107486;15084312;14580190;12810074;12670953;12667798;12525642;12477932;12458223;12369930;12171929;12161446;12136137;11081631;10888643;10393198;9882380;9753728;9724657;9525900;9490791;16005850;9371639;9151883;9045683;8900285;8884263;8670846;8551605;8332455;7926048;7697717;7556436;2555154;2001396;1923798;17090531;15096517;16103149;15142377;16120388;16075307;15875659;20574454;15969084;19064571;19671688;19859091;20176960;20226869;20371602;10583946;11937636;16344560;16697536;19023113;19625402;20466601;20496165;20800603;20877624;22153281;20843780;21454529;21473605;21832049;22939629;10629618;20870715;22077282;21755446;22292079;22529268;22483865;22521144;21139048;21890473;21906983;22171270;23506270;23506309;19838296;21963094;21988832;22138674;17331040;17586317;18514189;19020832;19275580;19275585;19458171;19696076;20012529;21318276;21566118;21874023;21918813;21934670;22053931;22190034;22274659;22505724 7374 E5KTA5;E5KTA6;F5GYA2;F5H2E0;P13051;Q68DM5 A64377;ABBA01005061;ABBA01005062;AC007637;AF526277;AK291341;AK299416;AK313552;AMYH01004735;BC015205;BC050634;BG326541;BM928006;BQ950839;BU622689;CH471054;CR541673;CR749342;DB045515;HH794618;HQ206226;HQ206227;HQ206228;HQ206229;HQ206230;HQ206231;HQ206232;HQ206233;HQ206234;HQ206235;HQ206236;HQ206237;HQ206238;HQ206239;HQ206240;HQ206241;HQ206242;HQ206243;HQ206244;HQ206245;HQ206246;HQ206247;HQ206248;HQ206249;HQ206250;HQ206251;HQ206252;HQ206253;HQ206254;HQ206255;HQ206256;HQ206257;HQ206258;HQ206259;HQ206260;HQ206261;HQ206262;HQ206263;HQ206264;HQ206265;NG_007284;NM_003362;NM_080911;X15653;X79093;X89398;Y09008 AAH15205;AAH50634;AAM77695;ACT64522;ACT64523;ADP92134;ADP92135;ADP92136;ADP92137;ADP92138;ADP92139;ADP92140;ADP92141;ADP92142;ADP92143;ADP92144;ADP92145;ADP92146;ADP92147;ADP92148;ADP92149;ADP92150;ADP92151;ADP92152;ADP92153;ADP92154;ADP92155;ADP92156;ADP92157;ADP92158;ADP92159;ADP92160;ADP92161;ADP92162;ADP92163;ADP92164;ADP92165;ADP92166;ADP92167;ADP92168;ADP92169;ADP92170;ADP92171;ADP92172;ADP92173;ADP92174;ADP92175;ADP92176;ADP92177;ADP92178;ADP92179;ADP92180;ADP92181;ADP92182;ADP92183;ADP92184;ADP92185;ADP92186;ADP92187;ADP92188;ADP92189;ADP92190;ADP92191;ADP92192;ADP92193;ADP92194;ADP92195;ADP92196;ADP92197;ADP92198;ADP92199;ADP92200;ADP92201;ADP92202;ADP92203;ADP92204;ADP92205;ADP92206;ADP92207;ADP92208;ADP92209;ADP92210;ADP92211;ADP92212;ADP92213;BAF84030;BAG36328;BAG61398;CAA03797;CAA33679;CAA61578;CAA61579;CAA70211;CAG46474;CAH18195;CBX87166;EAW97846;EAW97847;EAW97848;EAW97849;EAW97850;NP_003353;NP_550433;P13051 Hs.191334 1651044;1680260;1797024;2151610 RH15692;RH75801;UNG_288;WI-19583 DGU;DKFZp781L1143;HIGM4;HIGM5;UDG;UNG1;UNG15;UNG2 OTTHUMP00000240527;OTTHUMP00000240528;OTTHUMP00000240529;uracil-DNA glycosylase;uracil-DNA glycosylase 1, uracil-DNA glycosylase 2;uracil-DNA glycosylase 2 APPROVED protein-coding ENSG00000076248 12572 01881 191525;608106 REVIEWED 1313946 UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008] 19 19 p13.2-p13.11 18803744 18840039 + 18942744 18979039 + 1580863;6480464;6907045 21541368;12554878;10999600;16488880;9064659;9620853;11544179;19150429;8855285;18774934;18427545;18423202;18369187;18362360;18066079;17803942;17456004;17159905;16931876;16861888;16452507;16186820;16086026;15680326;15489334;15231747;15106121;15057824;14636577;14527413;12723973;12477932;12417715;12228722;12000843;11546874;11331269;11163187;11113196;11073994;10454541;9039502;6200476;15721257;15175154;22622014;21145461;21319273;12881429;17220478;17468741;18369367;19704008;20691628;20946641;21145460;19556969;21029861;21419344;16601204;22939629;18256688;19417104;21182205;22156744;21749700;21081666;21829167;21890473;21900206;21906983;22087843;18781797;21139048;22522823;19542561;22586326;21628590;22553336;16364915;19738201;21963094;22623428;23000965;23275559;23404710;23444366;22053931;22505724;22797925;22817733;22944692;22889941 5976 Q6ZUC8;Q92900 ABBA01051294;AC003972;AC004517;AF074016;AK125797;AK128727;AMYH01009601;AMYH01009602;BC034291;BC039817;BQ950083;CB960545;CH471106;D86988;NM_002911;U59323;U65533 AAB94785;AAC09016;AAC26788;AAC50771;AAC51140;AAH39817;BAA19664;BAC86297;BAG54717;EAW84738;EAW84739;EAW84740;EAW84741;EAW84742;NP_002902;Q92900 Hs.515266 1679744;1739657;2140856;2176109 A006H36;D19S842E;RH25427;RH36847 FLJ43809;FLJ46894;HUPF1;KIAA0221;NORF1;RENT1;pNORF1;smg-2 ATP-dependent helicase RENT1;UP Frameshift 1;delta helicase;nonsense mRNA reducing factor 1;regulator of nonsense transcripts 1;smg-2 homolog, nonsense mediated mRNA decay factor;up-frameshift mutation 1 homolog;up-frameshift suppressor 1 homolog;yeast Upf1p homolog APPROVED protein-coding ENSG00000005007 9962 03254 601430 REVIEWED 1319373 UPF2 UPF2 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008] 10 10 p14-p13 12002027 12125029 - 11962021 12085169 - 6480464;6907045 11073994;15231747;16488880;14636577;18987618;18066079;17803942;17456004;16449641;16209946;16186820;15489334;15361857;15004547;14702039;14574404;14527413;12723973;12718880;12554878;12477932;12417715;12093754;11546874;11544179;11163187;11113196;10718198;9933612;15680326;12881429;16385451;17468741;18369367;19556969;16086026;19322201;16601204;21419344;18256688;19417104;21145460;22939629;16344560;21139048;22219177;16452507;20085233;20371770 26019 Q9P2D9 AB037829;ABBA01034676;ABBA01034677;ABBA01034678;ABBA01034679;AC073160;AF301013;AF318574;AK000764;AK074375;AK096191;AK295209;AK310925;AL080198;AL138898;AL645617;AMYH01002029;AMYH01002030;AW444636;AY013249;BC090919;BC114964;BC115737;CH471072;DA188353;DB065422;NM_015542;NM_080599 AAG33225;AAG48509;AAG60689;AAH90919;AAI14965;AAI15738;BAA91369;BAA92646;BAB85064;BAC04721;BAG58205;CAB45771;EAW86328;EAW86329;EAW86330;EAW86331;EAW86332;EAW86333;NP_056357;NP_542166;Q9HAU5 Hs.370689;Hs.610110;Hs.732383 1765799;1781918;1788630;1794966;1851733;2121217;2148508 PMC86549P1;RH18142;SHGC-111377;SHGC-149225;SHGC-37657;STS-N72687;WI-20284 DKFZp434D222;HUPF2;KIAA1408;MGC138834;MGC138835;RENT2;smg-3 OTTHUMP00000019091;OTTHUMP00000019092;nonsense mRNA reducing factor 2;regulator of nonsense transcripts 2;smg-3 homolog, nonsense mediated mRNA decay factor;up-frameshift suppressor 2 homolog;yeast Upf2p homolog APPROVED protein-coding ENSG00000151461 17854 10405 605529 REVIEWED 1318748 UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 13 13 q34 114065180 114089385 + 115047059 115071292 + 1580863;6480464;6907045 11163187;15231747;17803942;17704778;16601204;15489334;15057823;15004547;14702039;14636577;12554878;12477932;12417715;11546874;11546873;11544179;11113196;12723973;14527413;17803295;16169070;19503078;18029348;21145460;21832049 65110 B4DXJ4;Q9H1J1 ABBA01006264;ABBA01006265;AF318575;AK001069;AK092586;AK097027;AK294545;AK302003;AL160396;AMYH01005417;AY013250;BC008694;BC023569;BC047735;BQ008047;CH471085;NG_029528;NM_023011;NM_080687 AAG48510;AAG60690;AAH08694;AAH23569;BAG53409;BAG57751;BAG63406;EAX09247;EAX09248;EAX09249;EAX09250;EAX09251;EAX09252;NP_075387;NP_542418;Q9H1J1 Hs.533855 1658011;1760283;2183911;5016781;5020490;5113371;5117676 G27732;GDB:595856;RH17923;SHGC-132824;SHGC-52734;SHGC-64094;SHGC-67307 FLJ35267;FLJ57970;HUPF3A;RENT3A;UPF3 OTTHUMP00000018789;OTTHUMP00000178892;hUpf3;nonsense mRNA reducing factor 3A;regulator of nonsense transcripts 3A;up-frameshift suppressor 3 homolog A APPROVED protein-coding ENSG00000169062 20332 09274 605530 REVIEWED 1320413 UPK1A uroplakin 1A The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] 19 19 q13.13 40849555 40861207 + 36157715 36169367 + 1580863;6480464 10514386;15088894;15913809;15489334;15200408;15057824;12477932;12475947;12036448;11739647;10404304;9846985;8530366;8138569;20978196;19577575;18051367 11045 O00322 AA548647;ABBA01018753;ABBA01018754;ABBA01018755;AC002115;AC002314;AF085807;AMYH01009728;AMYH01009729;BC107097;BC107098;HY263470;NM_001281443;NM_007000 AAB57631;AAB62736;AAC34887;AAI07098;AAI07099;NP_001268372;NP_008931;O00322 Hs.159309 MGC129751;MGC129752;MGC14388;TSPAN21;UP1A;UPIA;UPKA OTTHUMP00000045789;tetraspanin-21;tspan-21;uroplakin Ia;uroplakin-1a APPROVED protein-coding ENSG00000105668 12577 15624 611557 REVIEWED 6480137 UPK1A-AS1 UPK1A antisense RNA 1 19 q13.12 36158850 36164193 - 12477932;17207965 100862728 ABBA01018753;ABBA01018754;AC002115;AMYH01009728;AMYH01009729;BC007817;BF683645;BX283291;EL733629;NR_046420 Hs.569952 APPROVED miscrna ENSG00000226510 40603 VALIDATED 2801955 UPK3BL uroplakin 3B-like 7 q22.1 102277472 102283238 - 6480464 21890473 100134938 B0FP48;E5RIL1 AC105052;AMYH01017798;AMYH01017799;AMYH01017800;EU341824;NM_001114403 ABY56115;B0FP48;NP_001107875 Hs.610255 5016944;5022200;5022450;5022578;5111975;5127386 D10S275;D1S1423;G43579;L18426;RH93196;SHGC-31100 UPLP OTTHUMP00000228234;uroplakin-3-like protein;uroplakin-3b-like protein;uroplakin-like protein protein-coding ENSG00000267368 37278 VALIDATED 1346078 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] X X q25-q26 118852017 118870996 - 118967989 118986991 - 1580863;6480464;6907045;7240710 15680326;22609145;22939629;11163187;15231747;12226669;19503078;18066079;17704778;17194930;16601204;16209946;15635413;15004547;14702039;14527413;12723973;12718880;12554878;12477932;12417715;12093754;11546874;11546873;11113196;9933612;8012384;16169070;21145461;20479275;18029348;18369367;19615732;19884259;15146197;16344560;19238151;23084401;15361857;18256688;19417104;21145460;21628590;21139048;22182939 65109 Q0VAK7;Q9BZI7 ABBA01036621;ABBA01036622;AC002477;AF318576;AK093728;AMYH01022886;AY013251;BC008494;BC121017;BC121018;BF223724;BI549935;CH471161;CN412717;DA949746;EG328250;NG_009241;NM_023010;NM_080632;Z55204;Z59665 AAG48511;AAG60691;AAI21018;AAI21019;BAG52755;EAW89842;EAW89843;EAW89844;EAW89845;EAW89846;NP_075386;NP_542199;Q9BZI7 Hs.103832 5037552;5123167 D8S2279;RH47685 HUPF3B;MRXS14;RENT3B;UPF3X OTTHUMP00000023923;OTTHUMP00000023924;hUpf3p-X;nonsense mRNA reducing factor 3B;regulator of nonsense transcripts 3B;up-frameshift suppressor 3 homolog B;up-frameshift suppressor 3 homolog on chromosome X APPROVED protein-coding ENSG00000125351 20439 02247 300298;300676 REVIEWED 6481114 UPP2-IT1 UPP2 intronic transcript 1 (non-protein coding) 100874283 AC005539 miscrna 41467 1317213 UPK1B uroplakin 1B The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008] 3 3 q13.32 120375115 120406690 + 118892425 118924000 + 1580863;6480464 9935153;10514386;9818021;18355812;16354592;15489334;15140401;12477932;12475947;12031497;11739647;9846985;9073521;8530366;8125298;12446744;17207965 7348 C9J027;C9J6N2;C9J9M7;E7ETN9;O75841 AB002155;AB015234;ABBA01061587;AC083800;AF042331;AF067147;AF082888;AF324865;AK225868;AK303924;AK313787;AL709739;AMYH01013417;BC012851;BC063568;CH471052;CR457084;NM_006952 AAC17446;AAC77794;AAD09401;AAH63568;ADQ32551;BAA33724;BAA88878;BAG36524;BAG64852;CAG33365;EAW79577;NP_008883;O75841 Hs.271580 1713579;2218634;5024039 D16S325;RH120285;UPK1B__5030 TSPAN20;UPIB;UPK1 OTTHUMP00000215018;OTTHUMP00000215019;OTTHUMP00000215020;OTTHUMP00000215021;OTTHUMP00000215022;UP1b;tetraspan;tetraspanin-20;tspan-20;uroplakin Ib;uroplakin-1b APPROVED protein-coding ENSG00000114638 12578 03853 602380 REVIEWED 1353269 UPK2 uroplakin 2 This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009] 11 11 q23 118332236 118334479 + 118827008 118829269 + 1580863;6480464 10514386;9515818;8175808;17012268;16116969;15489334;12792753;12477932;12475947;10458411;10404304;9846985;7507484;8530366;12097284;18440837;21906983 7379 O00526 AB009454;AB078607;ABBA01039685;AF000562;AMYH01004079;AP004609;AY455312;BC113900;CD556028;EF445028;NM_006760;Y13645 AAB58416;AAI13901;AAR19396;ACA06070;BAA23884;BAB84089;CAA73996;NP_006751;O00526 Hs.379613 1782300;2174127 G17562;SHGC-141802 MGC138598;UP2;UPII OTTHUMP00000232689;uroplakin II;uroplakin-2 APPROVED protein-coding ENSG00000110375 12579 10295 611558 REVIEWED 1321651 UPK3A uroplakin 3A This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009] 22 22 q13.31 44059553 44070419 + 45680868 45691755 + 1580863;6480464;7240710 10514386;19412341;19007907;18528285;18313120;17880289;17698128;16731295;15489334;15461802;14713856;14654529;12477932;12475947;12474225;9846985;9818021;8889548;19959718;23541324;22632162 7380 O75631 AB010116;AB010637;ABBA01007134;ABBA01007135;ABBA01007136;AF085808;AL008718;AMYH01012849;BC069544;BC108900;BM681088;BM727658;CH471138;CR456608;NG_016203;NM_001167574;NM_006953 AAC34888;AAH69544;AAI08901;BAA25678;BAA31460;CAG30494;CAK54635;CAK54934;EAW73377;NP_001161046;NP_008884;O75631 Hs.632787 MGC119178;UP3A;UPIII;UPIIIA;UPK3 OTTHUMP00000199859;OTTHUMP00000199860;uroplakin III;uroplakin-3a APPROVED protein-coding ENSG00000100373 12580 15625 191830;611559 REVIEWED 1320049 UPK3B uroplakin 3B UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008] 7 7 7 q11.2 71125856 71131683 - 75977681 75982704 + 76139745 76157200 + 6480464 18029348;16814572;15489334;14702039;12853948;12477932;12446744;18776082;17207965;21984916 80761 A6NHH5;Q9BT76 ABBA01005630;ABBA01005631;AC004980;AC007078;AK056760;AK290096;AMYH01017587;AMYH01017588;AMYH01017589;AMYH01017590;AMYH01017591;AMYH01017592;AY233462;BC004304;BM921749;BQ689127;BU150542;NM_030570;NM_182683;NM_182684 AAH04304;AAO89507;AAS07526;ADQ32327;BAF82785;BAG51807;NP_085047;NP_872624;NP_872625;Q9BT76 Hs.488861 FLJ32198;MGC10902;P35;UP3B;UPIIIb OTTHUMP00000195161;OTTHUMP00000195162;OTTHUMP00000195163;UP3b;uroplakin IIIb;uroplakin-3b APPROVED protein-coding ENSG00000243566 21444 15626 611887 VALIDATED 1317821 UPP2 uridine phosphorylase 2 2 2 2 q24.1 152468457 152609424 + 158559937 158700724 + 158851691 158992666 + 1580863;6480464;6907045 21151189;11278417;12849978;19401682;15815621;15489334;14702039;12477932;20932310;17207965;21855639 151531 O95045 AA995921;ABBA01004849;ABBA01004850;AC005539;AK122743;AMYH01011200;AMYH01011201;AW771260;AY225131;BC033529;CH471058;NM_001135098;NM_173355 AAD12227;AAH33529;AAO61681;ADQ32354;BAG53699;EAX11437;NP_001128570;NP_775491;O95045 Hs.128427 1674677;1709618;1756635;2149307;2177161 SHGC-143679;SHGC-31345;SHGC-85171;WI-14252;WI-14877 UDRPASE2;UP2;UPASE2 OTTHUMP00000162808;OTTHUMP00000204647;UPase 2;liver-specific uridine phosphorylase;urdPase 2;uridine phosphorylase 2;uridine phosphorylase-2 protein-coding ENSG00000007001 23061 15627 VALIDATED 1313669 UPP1 uridine phosphorylase 1 The 2 known types of pyrimidine nucleoside phosphorylases, uridine phosphorylase (UP; EC 2.4.2.3) and thymidine phosphorylase (TP; EC 2.4.2.4), in the presence of orthophosphate, catalyze the reversible phosphorolysis of uridine and thymidine or deoxyuridine, respectively, to free bases and ribose-1-phosphate or deoxyribose-1-phosphate. Pyrimidine nucleoside phosphorylases can add ribose or deoxyribose to pyrimidine bases to form nucleosides that can be incorporated into RNA or DNA (Watanabe and Uchida, 1995 [PubMed 7488099]).[supplied by OMIM, Aug 2009] 7 7 p12.3 48094880 48114855 + 48128355 48148330 + 2317094;6480464;6907045 18457515 7488099;19291308;16798057;15489334;14702039;12477932;12115385;12084455;11807789;11278417;752472;19714313;20856879;22939629;18457437;21906983;22632162 7378 B4DND0;C9J486;C9JIP2;C9K0J2;F8WD51;Q16831;Q86Y75 AACC02000083;AACC02000093;ABBA01041078;AC122132;AK096167;AK297863;AMYH01017234;BC001405;BC007348;BC047030;BC053592;BE622095;BM544854;BT006699;BU528636;CH236955;CH236958;CH471128;NM_003364;NM_181597;X90858 AAH01405;AAH07348;AAH47030;AAH53592;AAP35345;BAG60192;CAA62369;CAA62370;EAW60993;EAW60994;EAW60995;EAW60996;NP_003355;NP_853628;Q16831 Hs.488240 1671476;2107753;5020948 G35510;UPP1_7899;WI-11994 UDRPASE;UP;UPASE;UPP OTTHUMP00000159566;OTTHUMP00000208692;UPase 1;urdPase 1;uridine phosphorylase 1 APPROVED protein-coding ENSG00000183696 12576 08932 191730 VALIDATED 1350764 UQCRBP1 ubiquinol-cytochrome c reductase binding protein pseudogene 1 X X p11.21 56779946 56780742 - 56763221 56764017 - 2543413;2543413;8751380 442454;7382 ABBA01069396;AL158200;AMYH01022456;EH340299;NR_002308 Hs.663220 pseudo 12583 PROVISIONAL 4144423 UQCRBP3 ubiquinol-cytochrome c reductase binding protein pseudogene 3 5 5 p15.2 14898325 14898650 - 14874510 14874820 - 100288785 ABBA01020641;AC016575;AMYH01014923;NG_028711 pseudo 39033 INFERRED 1354116 UQCRBP2 ubiquinol-cytochrome c reductase binding protein pseudogene 2 1 1 1 q23.3 135614161 135614488 - 160777746 160778073 - 162511122 162511449 - 2543413;2543413 100130719 ABBA01047304;AL596325;AMYH01001465;NG_027838 1339875;1680533 D1S2768;RH70819 pseudo 12584 INFERRED 1348323 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009] 19 19 19 p13.3 1532010 1540339 - 1548171 1556431 - 1597154 1605483 - 737633;1580863;6480464;6907045 12477932 9161705;15489334;15057824;10453733;20877624;22939629;21890473 10975 O14957 AA807820;ABBA01002664;AC005321;AC005943;AK312053;AMYH01009255;BC000462;BC003594;CH471139;D55636;DW465790;NM_006830 AAC27374;AAC72105;AAH00462;AAH03594;ABM83117;ABM86313;BAA21748;BAG34989;EAW69474;EAW69475;EAW69476;NP_006821;O14957 Hs.8372 1674804;2168502;2186531 A004X40;SHGC-32985;STS-AA029849 0710008D09Rik;QCR10;UQCR complex III subunit 10;complex III subunit XI;cytochrome b-c1 complex subunit 10;ubiquinol cytochrome c reductase, 6.4kDa subunit;ubiquinol-cytochrome c reductase complex 6.4 kDa protein;ubiquinol-cytochrome c reductase, 6.4kDa subunit APPROVED protein-coding ENSG00000127540;ENSG00000267059 30862 15628 609711 REVIEWED 6893021 UQCRC2P1 ubiquinol-cytochrome c reductase core protein II pseudogene 1 3 p21.31 46351892 46353467 - 100131327 ABBA01024719;AC138069;AMYH01013130;NG_022204 pseudo 44309 INFERRED 1605870 UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. [provided by RefSeq, Nov 2009] X X X q13.3 74777320 74808158 + 74410686 74441159 + 74493894 74524732 + 5132591;6480464;6907045 1476792 12477932;18626508;17384901;16189514;15772651;15489334;14702039;16344560;22797925 139596 A8KAF9;E9PSD7;F8W6E9;Q96BW1 AA974609;ABBA01059468;ABBA01059469;ABBA01059470;ABBA01059471;AK056354;AK293024;AK309951;AL137013;AL590234;AMYH01022615;AY643714;BC015116;CH471104;CK818555;CR749336;DA512889;NG_015972;NM_145052;NR_030774 AAH15116;AAT64916;BAF85713;CAH18190;EAW98630;EAW98631;NP_659489;Q96BW1 Hs.91612 1671524;2220290 AB063065;SHGC-36950 DKFZp781E1243;FUR1;MGC23937;RP11-311P8.3;UPP OTTHUMP00000023580;OTTHUMP00000023581;OTTHUMP00000233816;UMP pyrophosphorylase;UPRTase;uracil phosphoribosyltransferase homolog APPROVED protein-coding ENSG00000094841 28334 06640 300656 REVIEWED 1351451 UQCRFS1P1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 22 22 22 q13.1 24073359 24074178 + 38593588 38602346 + 40271293 40272112 + 8088805;22939629;18029348 100128525 P0C7P4 ABBA01055585;AMYH01012783;NG_009458;Z82206 P0C7P4 1678905;1745461;1793108;2118972 G13234;GDB:607737;PMC196577P2;RH39082 UQCRFSL1 APPROVED pseudo 12588 INFERRED 4759378 UQCRFS1P2 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 7 7 7 q34 133124166 133125574 + 138024413 138038353 + 138386404 138387812 + 11181995;12690205 647123 AACC02000025;ABBA01001173;AC020983;AMYH01017970;CH236950;CH471070;NG_009734 EAL24044;EAW83891 pseudo 39172 INFERRED 4772784 UQCRFS1P3 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3 6 6 6 p22.3 20876398 20877552 - 19746250 19752218 - 19638274 19639428 - 100130994 ABBA01022244;AL391054;AMYH01016126;NG_022295 1694152 AL008747 pseudo 39173 INFERRED 1345532 UQCC ubiquinol-cytochrome c reductase complex chaperone This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 20 20 q11.22 33353795 33463247 - 33890369 33999945 - 6480464 19266077;18391951;18391950;18193045;16381901;15489336;15489334;14702039;12878157;12477932;11780052;11118897;11076863;8125298;21208810;21224470;17355966;18391952;19343178;19863319;20072657;20189936;21077742;19578754;20877624;20546612;20444731;21043486;21110828;23128233;23207799 55245 B1AKV2;B1AKV3;B1AKV4;B1AKV6;B7Z1C6;B7Z314;B7Z7J8;D6RDV2;F5H4C5;F8WAM1;F8WCR2;H7BYA2;H7BZM2;H7C3C3;H7C611;Q3KRB6;Q96H66 ABBA01019160;ABBA01019161;ABBA01019162;ABBA01019163;ABBA01019164;ABBA01019165;AF173893;AK001712;AK022650;AK022742;AK093804;AK128252;AK225281;AK225557;AK293149;AK293516;AK295379;AK300130;AK302133;AK308819;AL121752;AL121753;AL122112;AL389874;AMYH01011874;AU280736;AY050659;AY050660;BC008871;BC105791;BC119013;BC122862;BM919736;BX537568;CH471077;NG_021421;NM_001184977;NM_018244;NM_199487 AAI05792;AAI19014;AAI22863;AAL13118;AAL13119;AAQ13640;BAA91854;BAB14156;BAB14217;BAH11462;BAH11526;BAH12050;BAH13218;BAH13634;CAD97785;CAL37762;CAL38728;EAW76210;EAW76211;EAW76212;EAW76213;EAW76214;EAW76215;EAW76216;EAW76217;NP_001171906;NP_060714;NP_955781;Q9NVA1 Hs.726290 1667738;1671277;1690416;1708672;1749343;1800338;1802066;1802068;1802106;1802344;1803630;1804174;1804536;1807528;1807870;1808076;1809882;1810168;1810234;1810398;1811498;1812420;1814106;1814598;1815596;1815852;1816810;1817266;1817722;1817834;1817900;1818854;1819696;1819960;1821510;1821776;1822148;1822214;1822216;1823026;1823104;1824932;1825020;1825104;1825322;1825794;1826298;1826478;1826848;1827640;1828044;1828638;1830468;1830698;1830726;1831068;1831114;1831854;1832192;1832374;1832840;1832940;1833234;1835186;1835188;1835782;1836082;1836212;1836572;1836796;1837180;1837738;1837740;1837940;1838188;1838914;1839198;1839496;1839890;1839938;1840360;1840928;1841654;1841850;1842622;1842842;1842896;1843084;1843574;1843786;1844194;1844360;1844846;1845006;1845076;1846140;1846264;1846396;1852065;1972616;1972618;1972620;1972622;1972624;1972626;1972628;1972630;1972632;1972634;1972636;1972638;1972640;1972642;1972644;1972646;1972648;1972650;1972652;1972654;1972656;1972658;1972660;1972662;1972664;1972666;1972668;1972670;1972672;1972674;1972676;1972678;1972680;1972682;1972684;1972686;1972688;1972690;1972692;1972694;1972696;1972698;1972700;1972702;1972704;1972706;1972708;1972710;1972712;1972714;1972716;1972718;1972720;1972722;1972724;1972726;1972728;1972730;1972732;1972734;1972736;1972738;1972740;1972742;1972744;1972746;1972748;1972750;1972752;1972754;1972756;1972758;1972760;1972762;1972764;1972766;1972768;1972770;1972772;1972774;1972776;1972778;1972780;1972782;1972784;1972786;1972788;1972790;1972792;1972794;1972796;1972798;1972800;1972802;1972804;1972806;1972808;1972810;1972812;1972814;1972816;1972818;1972820;1972822;1972824;1972826;1972828;1972830;1972832;1972834;1972836;1972838;1972840;1972842;1972844;1972846;1972848;1972850;1972852;1972854;1972856;1972858;1972860;1972862;1972864;1972866;1972868;1972870;1972872;1972874;1972876;1972878;1972880;1972882;1972884;1972886;1972888;1972890;1972892;1972894;1972896;1972898;1972900;1972902;1972904;1972906;1972908;1972910;1972912;1972914;1972916;1972918;1972920;1972922;1972924;1972926;1972928;1972930;1972932;1972934;1972936;1972938;1972940;1972942;1972944;1972946;1972948;1972950;1972952;1972954;1972956;1972958;1972960;1972962;1972964;1972966;1972968;1972970;1972972;1972974;1972976;1972978;1972980;1972982;1972984;1972986;1972988;1972990;1972992;1972994;1972996;1972998;1973000;1973002;1973004;1973006;1973008;1973010;1973012;1973014;1973016;1973018;1973020;1973022;1973024;1973026;1973028;1973030;1973032;1973034;1973036;1973038;1973040;1973042;1973044;1973046;1973048;1973050;1973052;1973054;1973056;1973058;1973060;1973062;1973064;1973066;1973068;1973070;1973072;1973074;1973076;1973078;1973080;1973082;1973084;1973086;1973088;1973090;1973092;1973094;1973096;1973098;1973100;1973102;1973104;1973106;1973108;1973110;1973112;1973114;1973116;1973118;1973120;1973122;1973124;1973126;1973128;1973130;1973132;1973134;1973136;1973138;1973140;1973142;1973144;1973146;1973148;1973150;1973152;1973154;1973156;1973158;1973160;1973162;1973164;1973166;1973168;1973170;1973172;1973174;1973176;1973178;1973180;1973182;1973184;1973186;1973188;1973190;1973192;1973194;1973196;1973198;1973200;1973202;1973204;1973206;1973208;1973210;1973212;1973214;1973216;1973218;1973220;1973222;1973224;1973226;1973228;1973230;1973232;1973234;1973236;1973238;1973240;1973242;1973244;1973246;1973248;1973250;1973252;1973254;1973256;1973258;1973260;1973262;1973264;1973266;1973268;1973270;1973272;1973274;1973276;1973278;1973280;1973282;1973284;1973286;1973288;1973290;1973292;1973294;1973296;1973298;1973300;1973302;1973304;1973306;1973308;1973310;1973312;1973314;1973316;1973318;1973320;1973322;1973324;1973326;1973328;1973330;1973332;1973334;1973336;1973338;1973340;1973342;1973344;1973346;1973348;1973350;1973352;1973354;1973356;1973358;1973360;1973362;1973364;1973366;1973368;1973370;1973372;1973374;1973376;1973378;1973380;1973382;1973384;1973386;1973388;1973390;1973392;1973394;1973396;1973398;1973400;1973402;1973404;1973406;1973408;1973410;1973412;1973414;1973416;1973418;1973420;1973422;1973424;1973426;1973428;1973430;1973432;1973434;1973436;1973438;1973440;1973442;1973444;1973446;1973448;1973450;1973452;1973454;1973456;1973458;1973460;1973462;1973464;1973466;1973468;1973470;1973472;1973474;1973476;1973478;1973480;1973482;1973484;1973486;1973488;1973490;1973492;1973494;1973496;1973498;1973500;1973502;1973504;1973506;1973508;1973510;1973512;1973514;2119858;2122057;2168390;2183253;2215074;2215076;2215078;2215080;2215082;2215084;2215086;2215088;2215090;2215092;2215094;2215096;2215098;2215100;2215102;2215104;2215106;2215108;2215110;2215112;2215114;2215116;2215118;2215120;2215122;2215124;2215126;2215128;2215130;2215132;2215134;2215136;2215138;2215140;2215142;2215144;2215146;2215148;2215150;2215152;2215154;2215156;2215158;2215160;2215162;2215164;2215166;2215168;2215170;2215172;2215174;2215176;2215178;2215180;2215182;2215184;2215186;2215188;2215190;2215192;2215194;2215196;2215198;2215200;2215202;2215204;2215206;2215208;2215210;2215212;2215214;2215216;2215218;2215220;2215222;2215224;2215226;2215228;2215230 A006Y33;A046ZF1;D20S800;ECD01028;ECD01914;ECD01915;ECD01935;ECD02056;ECD02721;ECD03007;ECD03197;ECD04736;ECD04910;ECD05016;ECD05933;ECD06076;ECD06109;ECD06191;ECD06749;ECD07217;ECD08082;ECD08329;ECD08835;ECD08966;ECD09451;ECD09683;ECD09914;ECD09971;ECD10004;ECD10491;ECD10915;ECD11051;ECD11839;ECD11974;ECD12160;ECD12193;ECD12194;ECD12601;ECD12640;ECD13565;ECD13609;ECD13653;ECD13767;ECD14005;ECD14262;ECD14353;ECD14539;ECD14940;ECD15145;ECD15446;ECD16368;ECD16485;ECD16499;ECD16670;ECD16693;ECD17065;ECD17234;ECD17326;ECD17561;ECD17611;ECD17759;ECD18748;ECD18749;ECD19052;ECD19202;ECD19267;ECD19450;ECD19562;ECD19756;ECD20037;ECD20038;ECD20141;ECD20266;ECD20636;ECD20779;ECD20930;ECD21128;ECD21152;ECD21365;ECD21657;ECD22024;ECD22126;ECD22518;ECD22628;ECD22656;ECD22750;ECD22996;ECD23104;ECD23310;ECD23394;ECD23639;ECD23719;ECD23755;ECD24290;ECD24352;ECD24418;REN57193;REN57194;REN57195;REN57196;REN57197;REN57198;REN57199;REN57200;REN57201;REN57202;REN57203;REN57204;REN57205;REN57206;REN57207;REN57208;REN57209;REN57210;REN57211;REN57212;REN57213;REN57214;REN57215;REN57216;REN57217;REN57218;REN57219;REN57220;REN57221;REN57222;REN57223;REN57224;REN57225;REN57226;REN57227;REN57228;REN57229;REN57230;REN57231;REN57232;REN57233;REN57234;REN57235;REN57236;REN57237;REN57238;REN57239;REN57240;REN57241;REN57242;REN57243;REN57244;REN57245;REN57246;REN57247;REN57248;REN57249;REN57250;REN57251;REN57252;REN57253;REN57254;REN57255;REN57256;REN57257;REN57258;REN57259;REN57260;REN57261;REN57262;REN57263;REN57264;REN57265;REN57266;REN57267;REN57268;REN57269;REN57270;REN57271;REN57272;REN57273;REN57274;REN57275;REN57276;REN57277;REN57278;REN57279;REN57280;REN57281;REN57282;REN57283;REN57284;REN57285;REN57286;REN57287;REN57288;REN57289;REN57290;REN57291;REN57292;REN57293;REN57294;REN57295;REN57296;REN57297;REN57298;REN57299;REN57300;REN57301;REN57302;REN57303;REN57304;REN57305;REN57306;REN57307;REN57308;REN57309;REN57310;REN57311;REN57312;REN57313;REN57314;REN57315;REN57316;REN57317;REN57318;REN57319;REN57320;REN57321;REN57322;REN57323;REN57324;REN57325;REN57326;REN57327;REN57328;REN57329;REN57330;REN57331;REN57332;REN57333;REN57334;REN57335;REN57336;REN57337;REN57338;REN57339;REN57340;REN57341;REN57342;REN57343;REN57344;REN57345;REN57346;REN57347;REN57348;REN57349;REN57350;REN57351;REN57352;REN57353;REN57354;REN57355;REN57356;REN57357;REN57358;REN57359;REN57360;REN57361;REN57362;REN57363;REN57364;REN57365;REN57366;REN57367;REN57368;REN57369;REN57370;REN57371;REN57372;REN57373;REN57374;REN57375;REN57376;REN57378;REN57379;REN57380;REN57381;REN57382;REN57383;REN57384;REN57385;REN57386;REN57387;REN57388;REN57389;REN57390;REN57391;REN57392;REN57393;REN57394;REN57395;REN57396;REN57397;REN57398;REN57399;REN57400;REN57401;REN57402;REN57403;REN57404;REN57405;REN57406;REN57407;REN57408;REN57409;REN57410;REN57411;REN57412;REN57413;REN57414;REN57415;REN57416;REN57417;REN57418;REN57419;REN57420;REN57421;REN57422;REN57423;REN57424;REN57425;REN57426;REN57427;REN57428;REN57429;REN57430;REN57431;REN57432;REN57433;REN57434;REN57435;REN57436;REN57437;REN57438;REN57439;REN57440;REN57441;REN57442;REN57443;REN57444;REN57445;REN57446;REN57447;REN57448;REN57449;REN57450;REN57451;REN57452;REN57453;REN57454;REN57455;REN57456;REN57457;REN57458;REN57459;REN57460;REN57461;REN57462;REN57463;REN57464;REN57465;REN57466;REN57467;REN57468;REN57469;REN57470;REN57471;REN57472;REN57473;REN57474;REN57475;REN57476;REN57477;REN57478;REN57479;REN57480;REN57481;REN57482;REN57483;REN57484;REN57485;REN57486;REN57487;REN57488;REN57489;REN57490;REN57491;REN57492;REN57493;REN57494;REN57495;REN57496;REN57497;REN57498;REN57499;REN57500;REN57501;REN57502;REN57503;REN57504;REN57505;REN57506;REN57507;REN57508;REN57509;REN57510;REN57511;REN57512;REN57513;REN57514;REN57515;REN57516;REN57517;REN57518;REN57519;REN57520;REN57521;REN57522;REN57523;REN57524;REN57525;REN57526;REN57527;REN57528;REN57529;REN57530;REN57531;REN57532;REN57533;REN57534;REN57535;REN57536;REN57537;REN57538;REN57539;REN57540;REN57541;REN57542;REN57543;REN57544;REN57545;REN57546;REN57547;REN57548;REN57549;REN57550;REN57551;REN57552;REN57553;REN57554;REN57555;REN57556;REN57557;REN57558;REN57559;REN57560;REN57561;REN57562;REN57563;REN57564;REN57565;REN57566;REN57567;REN57568;REN57569;REN57570;REN57571;REN57572;REN57573;REN57574;REN57575;REN57576;REN57577;REN57578;REN57579;REN57580;REN57581;REN57582;REN57583;REN57584;REN57585;REN57586;REN57587;REN57588;REN57589;REN57590;REN57591;REN57592;REN57593;REN57594;REN57595;REN57596;REN57597;REN57598;REN57599;REN57600;REN57601;REN57602;REN57603;REN57604;REN57605;REN57606;REN57607;REN57608;REN57609;REN57610;REN57611;REN57612;REN57613;REN57614;REN57615;REN57616;REN57617;REN57618;REN57619;REN57620;REN57621;REN57622;REN57623;REN57624;REN57625;REN57626;REN57627;REN57628;REN57629;REN57630;REN57631;REN57632;REN57633;REN57634;REN57635;REN57636;REN57637;REN57638;REN57639;REN57640;REN57641;REN57642;REN57643;RH48687;RH66526;RH78871;RH80003;SHGC-111105;SHGC-81477;STS-N35090;stSG636522;stSG636523;stSG636524;stSG636525;stSG636526;stSG636527;stSG636529;stSG636530;stSG636531;stSG636532;stSG636533;stSG636534;stSG636535;stSG636536;stSG636537;stSG636538;stSG636539;stSG636540;stSG636541;stSG636542;stSG636543;stSG636544;stSG636545;stSG636546;stSG636547;stSG636548;stSG636549;stSG636550;stSG636552;stSG636553;stSG636554;stSG636555;stSG636556;stSG636557;stSG636558;stSG636560;stSG636561;stSG636562;stSG636563;stSG636564;stSG636565;stSG636566;stSG636567;stSG636568;stSG636569;stSG636570;stSG636571;stSG636572;stSG636573;stSG636574;stSG636575;stSG636576;stSG636577;stSG636578;stSG636579;stSG636580;stSG636581;stSG636582;stSG636583;stSG636584;stSG636585;stSG636586;stSG636587;stSG636588;stSG636589;stSG636590;stSG636591;stSG636592;stSG636593;stSG636594;stSG636595;stSG636596;stSG636597;stSG636598;stSG636599;stSG636600;stSG636601;stSG636602;stSG636603 BFZB;C20orf44;CBP3;MGC104353;MGC141902 OTTHUMP00000030744;OTTHUMP00000030746;OTTHUMP00000030747;OTTHUMP00000030748;OTTHUMP00000030750;OTTHUMP00000061641;OTTHUMP00000061642;OTTHUMP00000194710;bFGF-repressed Zic-binding protein;basic FGF-repressed Zic-binding protein;cytochrome B protein synthesis 3 homolog;ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog APPROVED protein-coding ENSG00000101019 15891 12770 611797 REVIEWED 1344821 UQCRHP1 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 404025 31341 3207586 UQCRHP2 ubiquinol-cytochrome c reductase hinge protein pseudogene 2 2 2 2 p23.3 26057898 26058434 + 26071191 26071454 + 26217604 26218140 + 729769 ABBA01045170;AC013449;AMYH01010187;NG_023004 pseudo 38045 INFERRED 3476305 UQCRHP3 ubiquinol-cytochrome c reductase hinge protein pseudogene 3 10 10 10 q11.21 40231299 40231724 + 43547788 43548063 + 44227723 44228148 + 100131995 ABBA01050012;AL355989;AMYH01002293;NG_022997 pseudo 38046 INFERRED 1604015 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008] 22 22 22 q12.2 13963088 13966132 + 28493358 28496402 + 30163358 30166402 + 6480464;6907045 8592474;16054089;15489334;12477932;12107413;11042152;10591208;8889548;8125298;9651245;20877624;22939629;21139048;21890473;22277967 29796 Q9NZY4;Q9UDW1 AB028598;ABBA01055277;AC004882;AF112217;AF161468;AF161500;AF161536;AK225973;AMYH01012702;BC005402;BC015971;BI754905;BU935406;CA311834;CB999839;CD674029;CH471095;NM_001003684;NM_013387 AAF17205;AAF29023;AAF29083;AAF29115;AAH05402;AAH15971;BAB20672;EAW59839;EAW59840;EAW59841;NP_001003684;NP_037519;Q9UDW1 Hs.284292 1771637;1846745;2146262;2155029 D1S3348;D22S1554;G18190;STS-AA025006 HSPC051;HSPC119;HSPC151;QCR9;UCCR7.2;UCRC OTTHUMP00000199673;OTTHUMP00000199674;complex III subunit 9;complex III subunit X;cytochrome C1, nonheme 7kDa protein;cytochrome b-c1 complex subunit 9;cytochrome c1 non-heme 7 kDa protein;ubiquinol-cytochrome c reductase complex (7.2 kD);ubiquinol-cytochrome c reductase complex 7.2 kDa protein;ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa APPROVED protein-coding ENSG00000184076 30863 13691 610843 VALIDATED 2946958 UQCRHP5 ubiquinol-cytochrome c reductase hinge protein pseudogene 5 6 6 6 p21.33 33177088 33177361 - 31686839 31687112 - 31578860 31579133 - 19079260 100130756 AL662801;NG_023011 pseudo 38048 3476343 UQCRHP4 ubiquinol-cytochrome c reductase hinge protein pseudogene 4 3 3 3 p13 70116696 70116967 + 70272058 70272329 + 70189368 70189639 + 100128448 ABBA01030919;AC134025;AMYH01013266;NG_023010 2144456 D3S3375 pseudo 38047 INFERRED 1626260 URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase 13 13 13 q12.2 9627284 9637823 - 27450243 27460774 - 28552243 28562774 - 6480464;6907045 16462750 646625 A6NGE7 ABBA01035736;AL591024;AMYH01004992;CH471075;NM_001105577 A6NGE7;EAX08423;NP_001099047 Hs.705356 URAD OHCU decarboxylase;parahox neighbor;putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase APPROVED protein-coding ENSG00000183463 17785 PROVISIONAL 1323703 UQCRB ubiquinol-cytochrome c reductase binding protein This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011] 8 8 8 q22 93425296 93433854 - 97311910 97316987 - 97238904 97247862 - 1599707;1580863;1300048;6480464;6907045;7240710 12709789 3056408;16189514;15489334;12477932;8751380;2981208;2543413;2167087;2159470;19064571;20877624;22939629;18445752;19077451;19549744;20803152;21215626;21890473;21906983;22545919 7381 B7Z2R2;E5RHG9;E5RIT7;P14927 ABBA01037490;AI365233;AK295007;AK307085;AK311756;AMYH01018908;AP003465;AV747179;BC005230;BC041005;BI547559;BU535281;CH471060;CR542176;CR542196;M22348;M26700;M26701;M26730;M37387;NG_008237;NM_001199975;NM_001254752;NM_006294;NR_045639;X13585 AAA60235;AAA60236;AAA60237;AAA60238;AAA60361;AAH05230;BAG34699;BAH11948;CAA31926;CAG46973;CAG46993;EAW91749;NP_001186904;NP_001241681;NP_006285;P14927 Hs.131255 1656130;1668846;1680533;2140903;5015881;5037552 A007G39;D8S2279;GDB:335751;RH70819;SHGC-12379;WI-14041 FLJ92016;FLJ97033;MC3DN3;QCR7;QP-C;QPC;UQBC;UQBP;UQCR6;UQPC OTTHUMP00000227273;OTTHUMP00000227274;OTTHUMP00000227276;OTTHUMP00000227277;complex III subunit 7;complex III subunit VII;cytochrome b-c1 complex subunit 7;mitochondrial ubiquinone-binding protein;ubiquinol-cytochrome c reductase complex 14 kDa protein;ubiquinol-cytochrome c reductase, complex III subunit VI;ubiquinone-binding protein APPROVED protein-coding ENSG00000156467 12582 11770 124000;191330;615158 REVIEWED 1350936 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 19 19 q12 34390007 34395954 - 29698167 29704136 - 1580863;6480464;6907045 15489334;15057824;15047214;12821338;12477932;9150947;8088805;7721092;2999105;2158323;19064571;20379614;17207965;20877624;22939629;18029348;21139048;21890473;21901141;21906983;21628590 7386 P47985 ABBA01039534;AC007786;AK000225;AK291134;AMYH01009667;BC000649;BC010035;BC067832;BF210184;BF979273;L32917;L32977;NM_006003 AAC41754;AAD38242;AAH00649;AAH10035;AAH67832;ABM82767;ADQ32468;BAF83823;NP_005994;P47985 Hs.743307 1678905;1745461;1793108;2118972;2189519 G13234;GDB:607737;PMC196577P2;RH143354;RH39082 RIP1;RIS1;RISP;UQCR5 Rieske iron-sulfur protein;complex III subunit 5;cytochrome b-c1 complex subunit 5;cytochrome b-c1 complex subunit Rieske, mitochondrial;ubiquinol-cytochrome c reductase iron-sulfur subunit protein-coding 12587 01874 191327 VALIDATED 1342599 UQCRC1 ubiquinol-cytochrome c reductase core protein I 3 3 p21.3 48611436 48622102 - 48636432 48647098 - 1331810;1580863;6480464;6907045 8407948 17353931;19165527;19110265;16775426;15489334;15242332;12477932;12067236;10453733;8889549;8313870;8069229;7981668;7951059;6251869;1846623;17500595;22939629;11073949;18029348;15967462;20877624;22586326;16196087;20186120;18781797;21139048;21890473;21906983;22505724 7384 F8WEF1;F8WER5;P31930 AA284910;ABBA01024643;AC121252;AK129903;AK300694;AK302840;AK313090;AMYH01013151;BC009586;CH471055;D26485;L16842;NM_003365 AAA20046;AAH09586;BAA05495;BAG35915;BAG62377;BAG64031;EAW64898;NP_003356;P31930 Hs.119251 1730171;1735074;1744783;2117641;5017740 D3S1320E;D3S2761E;GDB:568587;RH11439;UQCRC1 D3S3191;QCR1;UQCR1 OTTHUMP00000164820;complex III subunit 1;core protein I;cytochrome b-c1 complex subunit 1, mitochondrial;ubiquinol-cytochrome-c reductase complex core protein 1 protein-coding ENSG00000010256 12585 01875 191328 VALIDATED 1314343 UQCRH ubiquinol-cytochrome c reductase hinge protein 1 1 1 p34.1 45056760 45069814 + 46541967 46555035 + 46769380 46782448 + 1580863;1300048;2301375;6480464;6907045 3036796 2826252;17081983;16710414;15489334;12881716;12477932;7821789;7684318;20877624;17500595;22939629;19343720 7388 P07919;Q567R0 ABBA01050840;ABBA01050841;AK311967;AL122001;AMYH01000586;AMYH01000587;BC001426;BC001934;BC015177;BC093060;BC107703;BT007070;CH471059;D28439;M36647;NM_006004;S61826;Y00764 AAA36317;AAD13930;AAH01426;AAH01934;AAH15177;AAH93060;AAI07704;AAP35733;BAA05805;BAG34906;CAA68733;EAX06922;EAX06923;EAX06924;EAX06925;EAX06926;NP_005995;P07919 Hs.481571 1678587;1853719;2141179;5106823 Bdy97d04;D1S2499;D1S3548;G07077 MGC111572;QCR6;UQCR8 OTTHUMP00000009481;complex III subunit 6;complex III subunit VIII;cytochrome b-c1 complex subunit 6, mitochondrial;cytochrome c1 non-heme 11 kDa protein;mitochondrial hinge protein;ubiquinol-cytochrome c reductase complex 11 kDa protein;ubiquinol-cytochrome c reductase, complex III subunit VIII protein-coding ENSG00000173660 12590 15629 613844 PROVISIONAL 7247048 URAHP urate (hydroxyiso-) hydrolase, pseudogene 12477932;16462750;20106906 100130015 ABBA01014115;ABBA01014116;AC133919;AK304171;AMYH01007941;BC044232;BC089450;DC393803;NR_027335;NR_027336 BAH14124 Hs.431792;Hs.599784;Hs.719553 URAH pseudo ENSG00000222019 43695 VALIDATED 1352193 UQCRC2 ubiquinol-cytochrome c reductase core protein II 16 16 16 p12 20743517 20773579 + 21872110 21902169 + 21964609 21994668 + 1580863;6480464;6907045 17353931;8288258;18029348;15489334;14702039;12477932;12067236;2547763;2162168;20677014;11073949;19596235;20877624;18614564;23106098;16335966;17500595;22939629;16196087;20186120;22354994;22586326;21139048;21890473;21906983;21963094;18781797;21078624;21081666;21987572;17725712;22304920;22268729;22505724;22797925 7385 H3BP04;H3BRG4;H3BSJ9;H3BUE4;H3BUI9;P22695 ABBA01003851;ABBA01003852;AC092119;AK093106;AK094006;AK307535;AMYH01007355;BC000484;BC003136;CH471249;J04973;NM_003366 AAA35710;AAH00484;AAH03136;ABM82316;ABM85491;BAG52796;EAW50590;EAW50591;EAW50592;NP_003357;P22695 Hs.528803 1664527;1676620;1736556;1736562;2135078;2156498;2185940;5016411 D16S2552E;D16S2557E;RH65269;SHGC-52911;SHGC-60700;SHGC-60745;SHGC-61151;STS-J04973 MC3DN5;QCR2;UQCR2 OTTHUMP00000162338;complex III subunit 2;core protein II;cytochrome b-c1 complex subunit 2, mitochondrial;ubiquinol-cytochrome-c reductase complex core protein 2 protein-coding ENSG00000140740 12586 01876 191329;615160 VALIDATED 1346688 URB2 URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1 1 1 q42.13 203029860 203063824 + 227828604 227862569 + 229761981 229795946 + 737633;1580863;6480464 12477932 15635413;15265697;11790298;8590280;18029348;21987572;21139048;21890473;21906983;22586326;22505724 9816 Q14146;Q5VYD0 ABBA01009828;AK291013;AL121990;AL354983;AMYH01001810;BC059381;BC114559;BC114963;CH471098;CQ834432;D50923;NM_014777 AAH59381;AAI14560;AAI14964;BAA09482;BAF83702;CAH05431;EAW69904;EAW69905;NP_055592;Q14146 Hs.533628 1688857;1692706;1769885 AL034106;RH25356;SHGC-37646 KIAA0133;MGC138837;MGC138838;NET10;NPA2 OTTHUMP00000037473;nucleolar preribosomal-associated protein 1;unhealthy ribosome biogenesis protein 2 homolog protein-coding ENSG00000135763 28967 17178 PROVISIONAL 1604364 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008] 5 5 5 q31.1 128332343 128334559 + 132230218 132232435 + 132202319 132204536 + 6480464;6907045;7240710 18439546;15544925;15489334;12477932;8592474;2164842;16169070;20877624;20440543;22939629;21890473;23000965 27089 O14949 ABBA01068795;AC004500;AK297061;AK312148;AMYH01015617;AW327741;BC001390;BC064949;BC090048;BG678118;BU190580;BU953465;CH471062;CR743513;NG_012221;NM_014402 AAH01390;AAH90048;BAH12487;EAW62308;NP_055217;O14949 Hs.146602 1688178;1744289;1805454;1805996;1824004;1841600;2002188;2002190;2002192;2002194;2002196;2002198;2002200;2002202;2002204;2002206;2002208;2002210;2002212;2002214;2002216;2002218;2002220;2002222;2002224;2002226;2096576;2096578;5017433;5037552;5109281 D1S1425;D8S2279;ECD03675;ECD03951;ECD13098;ECD21997;GDB:451577;REN72006;REN72007;REN72008;REN72009;REN72010;REN72011;REN72012;REN72013;REN72014;REN72015;REN72016;REN72017;REN72018;REN72019;REN72020;REN72021;REN72022;REN72023;REN72024;REN72025;RH41062;STS-T76997;stSG601583;stSG601584 MC3DN4;QCR8;QP-C;QPC;UQCR7 OTTHUMP00000066205;OTTHUMP00000066206;OTTHUMP00000066207;complex III subunit 8;complex III subunit VIII;cytochrome b-c1 complex subunit 8;low molecular mass ubiquinone-binding protein (9.5kD);ubiquinol-cytochrome c reductase complex 9.5 kDa protein;ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C APPROVED protein-coding 29594 17941 124000;612080;615159 REVIEWED 1353651 URB1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 21 21 21 q22.11 18866931 18948939 - 33683330 33765312 - 33683330 33765312 - 6480464 17474147;12429849;17081983;15226434;14637006;12477932;12168954;10773462;9628581;18029348;16963496;16196087;22586326;20360068;21900206;21139048;21890473;21906983;21963094;22505724 9875 O60287 AB011111;ABBA01057313;AF231919;AF432264;AMYH01012199;AP000266;AP000267;AP000268;AP000269;BC041033;BC062356;CH471079;NM_014825 AAF72943;AAL28110;BAA25465;EAX09876;EAX09877;NP_055640;O60287 Hs.473611 1656879;1730642;1799574;1806692;1808654;1809148;1809888;1810336;1811864;1812862;1813162;1814040;1814472;1818284;1819006;1819638;1833740;1833994;1836332;1837554;1838198;1839996;1853658;2019562;2019564;2019566;2019568;2019570;2019572;2019574;2019576;2019578;2019580;2019582;2019584;2019586;2019588;2019590;2019592;2019594;2019596;2019598;2019600;2019602;2019604;2019606;2019608;2019610;2019612;2019614;2019616;2019618;2019620;2019622;2019624;2019626;2019628;2019630;2019632;2019634;2019636;2019638;2019640;2019642;2019644;2019646;2019648;2019650;2019652;2019654;2019656;2019658;2019660;2019662;2019664;2019666;2019668;2019670;2019672;2019674;2019676;2019678;2019680;2019682;2019684;2019686;2019688;2019690;2019692;2019694;2019696;2019698;2019700;2019702;2019704;2019706;2019708;2019710;2019712;2019714;2019716;2019718;2019720;2019722;2019724;2019726;2019728;2019730;2019732;2019734;2019736;2099750;2099752;2099754;2099756;2099758;2099760;2099762;2099764;2099766;2099768;2099770;2099772;2099774;7184737 D21S314;ECD00639;ECD04303;ECD05309;ECD05563;ECD05936;ECD06160;ECD06936;ECD07444;ECD07600;ECD08047;ECD08266;ECD10199;ECD10568;ECD10886;ECD18015;ECD18144;ECD19328;ECD19944;ECD20271;ECD21182;REN80729;REN80730;REN80731;REN80732;REN80733;REN80734;REN80735;REN80736;REN80737;REN80738;REN80739;REN80740;REN80741;REN80742;REN80743;REN80744;REN80745;REN80746;REN80747;REN80748;REN80749;REN80750;REN80751;REN80752;REN80753;REN80754;REN80755;REN80756;REN80757;REN80758;REN80759;REN80760;REN80761;REN80762;REN80763;REN80764;REN80765;REN80766;REN80767;REN80768;REN80769;REN80770;REN80771;REN80772;REN80773;REN80774;REN80775;REN80776;REN80777;REN80778;REN80779;REN80780;REN80781;REN80782;REN80783;REN80784;REN80785;REN80786;REN80787;REN80788;REN80789;REN80790;REN80791;REN80792;REN80793;REN80794;REN80795;REN80796;REN80797;REN80798;REN80799;REN80800;REN80801;REN80802;REN80803;REN80804;REN80805;REN80806;REN80807;REN80808;REN80809;REN80810;REN80811;REN80812;REN80813;REN80814;REN80815;REN80816;SHGC-57897;SHGC-87585;stSG606350;stSG606351;stSG606352;stSG606353;stSG606354;stSG606355;stSG606356;stSG606357;stSG606358;stSG606359;stSG606360;stSG606361;stSG606362 C21orf108;KIAA0539;NPA1 OTTHUMP00000067386;nucleolar pre-ribosomal-associated protein 1;nucleolar preribosomal-associated protein 1;nucleolar protein 254 kDa protein-coding ENSG00000142207 17344 608865 VALIDATED 1315307 URM1 ubiquitin related modifier 1 9 9 9 q34.11 101784501 101803918 + 130173461 130192834 + 131133598 131154295 + 737633;6480464 12477932 19017811;18491921;16864801;16046629;15489334;15164053;14702039;16169070;21209336;21245332;21139048;16344560;22939629 81605 Q5T4A9;Q9BTM9 ABBA01043877;AI872337;AK001880;AK097029;AK300877;AL359091;AMYH01021744;BC003581;BC011620;BI823604;CH471090;D83200;DA691216;NM_001135947;NM_001265582;NM_030914;NR_049743 AAH03581;BAG50985;BAG62520;EAW87782;EAW87783;EAW87784;EAW87785;EAW87786;NP_001129419;NP_001252511;NP_112176;Q9BTM9 Hs.495229 1677979;1772152;2129059 RH41877;RH78079;RH80307 C9orf74;MGC2668;RP11-339B21.4 OTTHUMP00000022258;OTTHUMP00000022259;chromosome 9 open reading frame 74;ubiquitin related modifier 1 homolog;ubiquitin-related modifier 1 homolog APPROVED protein-coding 28378 12976 612693 VALIDATED 1321217 URI1 URI1, prefoldin-like chaperone This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011] 19 19 19 q12 27127113 27200278 + 35125265 35198456 + 30414551 30507519 + 6480464 9819440;9878255;17936702;17081983;15367675;14702039;14615539;12737519;12477932;11827465;21397856;16055720;17643375;19450687;20379614;21832049;21310960;21730289;21890473;19875381 8725 F8W9T0;I3L0K5;I3L104;I3L130;I3L280;I3L2V7;I3L467;I3NI51;K7EQZ9;O94763 AA678820;ABBA01039559;ABBA01039560;AC008507;AF091095;AK001437;AK226173;AK292170;AK314313;AMYH01009678;AMYH01009679;AMYH01009680;AMYH01009681;AW003989;AW954529;BC014933;BC026184;BC067259;BG742069;DB461036;NM_001252641;NM_003796;NR_045557 AAD08679;AAH14933;AAH26184;AAH67259;BAF84859;BAG50914;NP_001239570;NP_003787;O94763 Hs.466391 1652541;1653293;1690364;1770399;1791131;1854027;2183673 RH12894;RH45535;SGC30870;SHGC-30736;STS-R63092;STS-Z41049;px-16e8 C19orf2;FLJ10575;NNX3;PPP1R19;RMP;URI RNA polymerase II subunit 5-mediating protein;RNA polymerase II, subunit 5-mediating protein;RPB5-mediating protein;protein phosphatase 1 regulatory subunit 19;protein phosphatase 1, regulatory subunit 19;unconventional prefoldin RPB5 interactor;unconventional prefoldin RPB5 interactor 1 APPROVED protein-coding 13236 11943 603494 REVIEWED 1604342 URGCP upregulator of cell proliferation URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008] 7 7 7 p13 43905366 43955861 - 43882026 43932521 - 43915501 43965996 - 6480464 18972316;17217616;16730941;16344560;15302935;15203218;12477932;12082552;10819331;20491173;20714998;22939629;21139048;21906983;22677619;21963094;23007575;23053999;22815774 55665 C9J0W2;C9JKA8;F8WCC3;F8WDN0;Q8TCY9 AACC02000040;AB040940;ABBA01058197;ABBA01058198;AC004985;AK000661;AK026185;AK302459;AK314339;AL832134;AL833744;AMYH01017207;AY078404;BC018426;BG722670;BX640797;BX648505;CD628752;CH236951;CH471073;CR749398;DA240479;DA316326;DR421788;NM_001077663;NM_001077664;NM_017920 AAH18426;AAL83710;ABM82000;ABM85183;BAA91312;BAA96031;BAG36982;BAH13717;CAE45880;CAH18244;CAH56246;EAW94174;EAW94175;EAW94176;NP_001071131;NP_001071132;NP_060390;Q8TCY9 Hs.663312 1652833;1699550;1710564;1756701;1776057;2128295;2176760;5022651;5024413 D11S2921;GDB:1317474;L17877;RH103374;RH45623;SHGC-143790;SHGC-36996;SHGC-82383;STS-Z40982 DKFZp666G166;DKFZp686O0457;URG4 HBV X protein up-regulated gene 4 protein;HBxAg up-regulated gene 4 protein;OTTHUMP00000207526;OTTHUMP00000207527;OTTHUMP00000207528;OTTHUMP00000207529;OTTHUMP00000207530;OTTHUMP00000207531;OTTHUMP00000207532;up-regulated gene 4;up-regulator of cell proliferation APPROVED protein-coding ENSG00000106608 30890 11663 610337 VALIDATED 2306325 USF1P1 upstream transcription factor 1 pseudogene 1 21 21 21 q22.11 19897005 19897492 + 34706919 34707406 + 34706919 34707406 + 100151645 ABBA01057338;AMYH01012210;AP000112;AP000188;AP000297;NG_007657 1827720;2027660;2027662;2027664;2027666;2027668;2027670;2027672;2027674;2027676;2027678;2027680 ECD14982;REN84834;REN84835;REN84836;REN84837;REN84838;REN84839;REN84840;REN84841;REN84842;REN84843;REN84844 USF1P APPROVED pseudo 23773 INFERRED 1347314 UROC1 urocanate hydratase 1 This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 3 3 3 q21.3 124624832 124661450 - 127682814 127719284 - 126200008 126236616 - 6480464;6907045;7240710 15221005;15489334;14702039;12477932;16344560;19304569;6107814;7944380;21110914 131669 Q96N76 AB075869;ABBA01016389;ABBA01016390;ABBA01016391;AC024558;AK055862;AMYH01013450;BC115405;BC115406;BX108463;CH471052;DA638082;NG_016286;NM_001165974;NM_144639 AAI15406;AAI15407;BAB71032;BAD38651;EAW79360;NP_001159446;NP_653240;Q96N76 Hs.331148 2122986 SHGC-37132 FLJ31300;HMFN0320;MGC135007;MGC135008 OTTHUMP00000222633;OTTHUMP00000222634;imidazolonepropionate hydrolase;urocanase 1;urocanase domain containing 1;urocanate hydratase APPROVED protein-coding ENSG00000159650 26444 08712 276880;613012 REVIEWED 1353597 USH1A Usher syndrome 1A (autosomal recessive, severe) 7240710 7393 1337966;1339492 D14S250;D14S78 12595 276900 1321278 UROS uroporphyrinogen III synthase The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008] 10 10 q25.2-q26.3 127467142 127501757 - 127477147 127511837 - 1599715;1580863;1578396;4144823;4144822;4144542;6480464;6907045;7240710 2331520;3327431;925603;16839620 3174619;3805019;18004775;19099412;19021769;17298225;16713569;15489334;15304101;15164054;12477932;12060141;11689424;11254675;11121156;11112350;9834209;9803266;9188670;8829650;8655129;7860775;7616657;7607680;3792391;2037278;1737856;1733834;19965637;21145461;21343304;22350154;21570665 7390 P10746;Q5T3L7;Q5T3L8;Q5T3L9 ABBA01034170;AF230665;AK314896;AL360176;AMYH01003163;BC002573;BC004338;CH471066;DR156879;J03824;NG_011557;NM_000375 AAA60273;AAG36795;AAH02573;AAH04338;ABM82862;ABM86049;BAG37410;EAW49221;EAW49222;EAW49223;EAW49224;EAW49225;EAW49226;EAW49227;EAW49228;EAW49229;NP_000366;P10746 Hs.501376 1666998;1701240;1736148;1743171;2108635 D10S1316E;D10S1401E;GDB:280629;RH104248;UROS_8710 UROIIIS OTTHUMP00000020709;OTTHUMP00000020710;OTTHUMP00000020712;UROIIIS;hydroxymethylbilane hydrolyase;uroporphyrinogen-III cosynthase;uroporphyrinogen-III synthase APPROVED protein-coding ENSG00000188690 12592 06087 263700;606938 REVIEWED 1351123 UROD uroporphyrinogen decarboxylase This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010] 1 1 p34 45250417 45253928 + 45477805 45481341 + 1599713;1580863;1578396;2301374;4144542;4144182;4145077;4144806;4145290;2303399;6480464;6907045;7240710 2920211;2276414;16839620;12426626;661926;6721832;3271868;10416273 18004775;19419417;17627795;16710414;16390615;15491440;15489334;15186324;15046048;12477932;12071824;11719352;11295834;10477430;10338097;9806541;9792863;9564029;8896428;8644733;8176248;8125298;7706766;3775362;3658695;3460962;3015909;2243121;1905636;1634232;11069625;20553007;21079081;20479301;18029348;20029029;22939629;23209648;22863883;17623298;21900206;21963094;21139048;22382040 7389 H0Y5R6;P06132;Q5T446 ABBA01050894;AF047383;AF103016;AF103017;AF104421;AF104422;AF104423;AF104424;AF104425;AF104426;AF104427;AF104428;AF104429;AF104430;AF104431;AF104432;AF104433;AF104434;AF104435;AF104436;AF104437;AF104438;AF104439;AF104440;AK225053;AK291877;AK293702;AK295284;AK308996;AK309446;AK309724;AK310208;AK315878;AL359473;AMYH01000569;AY292986;BC001778;BM554255;BT006737;BX647308;CH471059;CR456976;CR542057;DB462002;M14016;M60891;NG_007122;NG_033058;NM_000374;NR_036510;U30787;X89267 AAA61258;AAB59456;AAC03563;AAC50482;AAD04167;AAD04168;AAD04571;AAD04572;AAD04573;AAD04574;AAD04575;AAD04576;AAD04577;AAD04578;AAD04579;AAD04580;AAD04581;AAD04582;AAD04583;AAD04584;AAD04585;AAD04586;AAD04587;AAD04588;AAD04589;AAD04590;AAH01778;AAP35383;AAP44118;ABM81614;ABM84796;BAF84566;BAF98769;BAG57136;BAG58268;CAA61540;CAG33257;CAG46854;EAX07007;EAX07008;NP_000365;P06132 Hs.78601 1857716;2144759;2150953;2189469;2191101 MARC_14579-14580:1009487818:7;MARC_6909-6910:992007560:1;RH78894;SHGC-74688;WI-18590 PCT;UPD OTTHUMP00000010502;OTTHUMP00000010503;UPD;URO-D;fifth enzyme of heme biosynthetic pathway;fifth enzyme of the heme biosynthetic pathway;uroporphyrinogen III decarboxylase;uroporphyrinogen decarboxylase APPROVED protein-coding ENSG00000126088 12591 01441 176100;613521 REVIEWED 1351921 USH1E Usher syndrome 1E (autosomal recessive, severe) 7240710 9002666 7396 1335694;1338195 D21S1905;D21S1913 12599 1349709 USH2B Usher syndrome 2B (autosomal recessive, mild) 10234513;7901420 7400 12602 736503 USH2A Usher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] 1 1 q41 213862859 214663361 - 215796236 216596738 - 634438;6480464;7240710 12160733 16434480;14676276;15671307;10090909;12433396;19023448;18665195;18641288;18519826;18484607;18463160;18452394;18273898;17405132;17360538;17296898;17085681;17081983;16767206;16710414;16545802;16301217;16301216;16114888;16098008;15823922;15325563;15241801;15025721;15015129;14970843;12786748;12525556;12427073;12112664;11788194;11402400;11311042;10909849;10775529;10738000;10729113;9624053;276901;20145675;20591486;20628086;19913121;19129697;19683999;19737284;19881469;20309401;20379614;20507924;20801516;22876132;22990118;22159486;21686329;22009552;21593743;22004887;20301515;20301590;22147658;22563300;23382691 7399 O75445 AA883599;AADB02001158;ABBA01048123;ABBA01048124;ABBA01048125;ABBA01048126;ABBA01048127;ABBA01048128;ABBA01048129;ABBA01048130;AC092799;AC093581;AC119429;AC138024;AF055580;AF091889;AL139259;AL358452;AL358858;AL445650;AL513305;AMYH01001727;AMYH01001728;AMYH01001729;AY481573;NG_009497;NM_007123;NM_206933 AAC23748;AAF75819;AAS47698;NP_009054;NP_996816;O75445 Hs.655974 1336542;1654303;1667161;1686474;1691820;1692472;1692762;1692974;1703820;1711010;1715223;1725155;1726381;1727337;1752951;1754281;1760947;1769005;1775344;1781430;1781714;2114338;2128556;2131888;2134890;2142314;2155891;2158087;2172556;2181389 143XF10;AFM248tc1;AFM268zd1;AL009286;AL009345;AL009491;AL009851;AL009855;AL010107;AL033887;AL033963;AL034147;AL034204;D1S2086;D1S2171;D1S2435;D1S2827;G62491;G63076;RH118881;RH119862;RH79627;SHGC-106817;SHGC-111484;SHGC-132295;SHGC-144902;SHGC-155213;SHGC-76355;SHGC-78958;SHGC-84884 RP39;US2;USH2;dJ1111A8.1 OTTHUMP00000035145;OTTHUMP00000063383;Usherin;usher syndrome type IIa protein;usher syndrome type-2A protein APPROVED protein-coding ENSG00000042781 12601 02042;09759 276901;608400;613809 REVIEWED 1346492 USH2C Usher syndrome 2C (autosomal recessive) 7240710 10745043 56830 12603 604352;605472 1342890 USH3B Usher syndrome 3B 23662 12606 614504 1606230 USB1 U6 snRNA biogenesis 1 This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] 16 16 16 q21 42532629 42552834 + 56592806 56613023 + 58035277 58055527 + 6480464 15489334;15231748;14702039;12477932;21271650;16344560;10737800;20004881;20503306;20618321;20734427;20817924;21497268;23684637;23022480;21872685;22269211;19322201;22899009;23190533;21967010 79650 H3BN52;H3BNM8;H3BTS1;H3BTT8;Q9BQ65 ABBA01025289;ABBA01025290;AC010543;AC012182;AK023216;AK126223;AK293220;AK298473;AK301494;AK303121;AMYH01007705;BC004415;BC006291;BC007774;BC010099;BC021554;BF733890;BI910866;BM193105;BQ223186;BX117268;CH471092;DB364698;DB382938;DC363309;DC380401;NG_027698;NM_001195302;NM_001204911;NM_024598 AAH04415;AAH06291;AAH07774;AAH10099;AAH21554;ADZ15885;BAB14469;BAG56759;BAG60684;BAG63005;BAG64227;EAW82962;EAW82963;EAW82964;NP_001182231;NP_001191840;NP_078874;Q9BQ65 Hs.408702 1771371 SHGC-61346 C16orf57;FLJ13154;HVSL1;Mpn1;PN;hUsb1 HVSL motif containing 1;OTTHUMP00000164660;U six biogenesis 1;U6 snRNA phosphodiesterase;UPF0406 protein C16orf57;hypothetical protein LOC79650;mutated in poikiloderma with neutropenia protein 1;putative U6 snRNA phosphodiesterase APPROVED protein-coding ENSG00000103005 25792 07815 613276 VALIDATED 734370 USF2 upstream transcription factor 2, c-fos interacting This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 19 19 q13 40451736 40462558 + 35759896 35770718 + 1580863;6480464 1589769;8576131;8954795;7852331;19089909;19087304;19074828;18970934;18845576;18167349;18165439;17823260;17379962;17353931;17081983;16870626;16386222;16199862;15864740;15767439;15741164;15489334;15276216;15242350;15187018;15057824;15042619;14502648;12970752;12917334;12857727;12791656;12663044;12611894;12477932;11948912;11945176;11583024;11058604;10434034;9110174;9108421;9099698;9070273;9053857;8619474;1450663;20936779;19730683;19846536;20180799;16943425;20626032;15014447;19505873;17846119;20814220;21813151;15358760;21139048;21890473;21921026;22966206;21653943;22891280 7392 B4DLJ1;M0QXS8;M0QXT0;M0QY46;M0QYU7;M0QZ39;M0R1C6;Q15853;Q6YI47 ABBA01018738;AD000684;AK297022;AMYH01009726;AY007087;AY147880;BC042655;BC049821;CR536504;M77476;NG_029241;NM_003367;NM_207291;S50537;X90824;X90825;X90826;Y07661 AAB24368;AAB51179;AAH49821;AAN63092;BAG59553;CAA62339;CAA62340;CAA62341;CAA68942;CAG38742;NP_003358;NP_997174;Q15853 Hs.454534 1678341;1716745;1851955;2135743;2153357;5111413 RH121665;RH68134;RH75657;STS-N20344;STS-S50537;STS-X90824 FIP;bHLHb12 FOS-interacting protein;c-fos interacting protein;class B basic helix-loop-helix protein 12;major late transcription factor 2;upstream stimulatory factor 2 APPROVED protein-coding ENSG00000105698 12594 02668 600390 REVIEWED 2923065 USMG5P1 up-regulated during skeletal muscle growth 5 homolog (mouse) pseudogene 1 X X q13.2 73677196 73677469 + 73393696 73394025 + 100288307 ABBA01059596;AMYH01022613;CH471104;NG_012722;Z83843 EAW98657 pseudo 31716 INFERRED 1603634 USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae) 19 19 19 p13.11 17227674 17232159 + 17187155 17191638 + 17326155 17330638 + 6480464 15029241;15272311;16354670;16381901;16344560;16189514;15489336;15489334;14702039;12761501;12477932;11076863;20975683;19369418;21832049;21139048;21906983 55850 F8W6G7;G8JLK1;M0QYT5;M0QZE0;M0QZZ6;Q9NZ43 AB097050;ABBA01051186;AC020913;AF220052;AK074683;AMYH01009570;BC006005;BC008455;BF448659;BI758045;CH471106;DA506853;NM_018467;T86451 AAF67645;AAH06005;AAH08455;ABZ92350;BAC11136;BAC77403;CAL38678;EAW84574;EAW84575;EAW84576;NP_060937;Q9NZ43 Hs.16187 2153961;5022578;5037552 D1S1423;D8S2279;WI-11338 MDS032;P31;SLT1 Q-SNARE;SNARE-like tail-anchored protein 1 homolog;USE1-like protein;protein p31;putative MAPK activating protein PM26;putative MAPK-activating protein PM26;vesicle transport protein USE1 protein-coding ENSG00000053501 30882 11299 610675 VALIDATED 1347198 USMG5 up-regulated during skeletal muscle growth 5 homolog (mouse) 10 10 10 q24.33 98888747 98896156 - 105138804 105146213 - 105148807 105156270 - 737633;1580863;6480464 12477932 15146197;21345788;16713569;16222733;15489334;15164054;18781797;21890473;22688299;23246001;22505724 84833 Q96IX5 ABBA01063100;AI479343;AJ272056;AK311888;AL110185;AL591408;AMYH01003026;AY740522;BC007087;BC072683;BC091507;CH471066;CN367000;DW446355;NM_001206426;NM_001206427;NM_032747 AAH07087;AAH72683;AAH91507;AAU89079;BAG34829;CAC81243;EAW49642;EAW49643;EAW49644;NP_001193355;NP_001193356;NP_116136;Q96IX5 Hs.500921;Hs.732499 1659364;5106471 RH47040;RH78847 DAPIT;DKFZp566D211;HCVFTP2;MGC14697;bA792D24.4 HCV F-transactivated protein 2;OTTHUMP00000020397;OTTHUMP00000020398;OTTHUMP00000020399;OTTHUMP00000020400;OTTHUMP00000020401;diabetes-associated protein in insulin-sensitive tissues;up-regulated during skeletal muscle growth protein 5;upregulated during skeletal muscle growth 5;upregulated during skeletal muscle growth 5 homolog protein-coding ENSG00000173915 30889 18277 615204 VALIDATED 1322004 USHBP1 Usher syndrome 1C binding protein 1 19 19 19 p13 17262392 17277301 - 17221849 17236544 - 17360849 17375544 - 737633;1580863;6480464 12477932 11311560;16189514;16713569;15489334;14702039;19060904;19447967 83878 G8JLM4;M0R172;M0R3B1;Q8N6Y0;Q8N8Y1 AB026290;AB040046;ABBA01051188;ABBA01051189;AC010646;AC104522;AK075162;AK096028;AK292031;AK300617;AK315239;AMYH01009570;BC027910;CH471106;NM_031941 AAH27910;BAB41203;BAB43978;BAC04680;BAC11443;BAF84720;BAG37666;BAG62310;EAW84581;EAW84582;EAW84583;NP_114147;Q8N6Y0 Hs.512773 1699136;1770719;2179689;5015619;5016596;5022588;5120437 D11S3114;D5S1597E;GDB:315881;GDB:631802;RH103144;STS-AA018792;STS-Z40754 AIEBP;FLJ38709;FLJ90681;MCC2 AIE-75 binding protein protein;AIE-75-binding protein;MCC-2;USH1C-binding protein 1;Usher syndrome type-1C protein-binding protein 1;mutated in colon cancer protein 2 protein-coding ENSG00000130307 24058 18276 611810 VALIDATED 1348071 USP10P1 ubiquitin specific peptidase 10 pseudogene 1 14 14 q11.2 19215649 19219046 + 20145909 20149106 + 780779 AL512310;AMYH01005576;NG_005813 ubiquitin specific protease 10 pseudogene 1 pseudo 31752 INFERRED 1604853 USP10P2 ubiquitin specific peptidase10 pseudogene 2 14 14 q11.1 18480489 18483894 - 19410589 19413792 - 780778 AMYH01005466;CR383656;NG_005812 pseudo 33272 INFERRED 733910 USF1 upstream transcription factor 1 This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013] 1 1 q22-q23 159275665 159282381 - 161009041 161015757 - 1580805;2313793;2313794;2313792;6480464;7240710 16699592;18445538;16186412;18593823 2249772;8576131;18234320;17353931;15054483;7852331;12917334;19087304;18974842;18845576;18817855;18802024;18758746;18660489;18577828;18303204;18276913;18167349;18165439;18097648;17885212;17823260;17765897;17673701;17574780;17379962;17309647;17065663;17016691;16943425;16936202;16870626;16531745;16386222;16381901;16288473;16225938;16199862;16132950;16076849;15985485;15976322;15864740;15767439;15489336;15489334;15358786;15242350;15187018;15175273;15111769;14991056;14644095;14573800;14514691;12970752;12923186;12851711;12791656;12684442;12663044;12477932;12444925;12403649;11948912;11945176;11230166;11076863;9537421;15959806;9384587;9160889;9053857;8486371;8306960;7774954;1961251;12611894;12857727;19913121;20628086;20682687;11256614;17970752;19303849;19389701;19533890;19720831;19730683;19750004;19910639;19995791;20031629;20054229;18070436;18307922;20180799;16195385;21832049;17846119;15014447;21813151;15342556;18230803;22390463;21873430;15358760;22242598;22258560;22460558;21139048;21693764;22291606;19322201;21653943;23181698;21890473;23128233;22891280;9050988 7391 B1AQP1;E9PJ52;E9PME6;E9PQA2;H0YD59;P22415;Q7Z5Y1 AB017568;AB098540;ABBA01016602;AK314876;AL591806;AL832119;AMYH01001456;AY593992;BC035505;BP280296;CH471121;NG_011612;NM_001276373;NM_007122;NM_207005;X55666 AAH35505;AAS89301;BAA76541;BAC78384;BAG37391;CAA39201;CAL37633;CAL38711;EAW52675;EAW52676;NP_001263302;NP_009053;NP_996888;P22415 Hs.414880 1827720;2129450;2177510;5014053;5491641 D1S3693;ECD14982;MARC_4129-4130:996679399:1;RH36021;STS-W72330 FCHL;FCHL1;HYPLIP1;MLTF;MLTFI;UEF;bHLHb11 OTTHUMP00000029691;OTTHUMP00000029693;OTTHUMP00000029695;OTTHUMP00000228974;class B basic helix-loop-helix protein 11;major late transcription factor 1;upstream stimulatory factor 1 APPROVED protein-coding ENSG00000158773 12593 01880 191523;602491 REVIEWED 1604645 USH1C Usher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] 11 11 p14.3 17472018 17522539 - 17515442 17565963 - 6480464;7240710 11311560;16464467;15219944;10973247;11398101;10209257;19297620;18484607;17407589;16713569;16301216;15660226;15578223;15489334;14759258;12665801;12588794;12485990;12477932;12407180;12136232;12107438;11810303;11139240;10973248;10508479;10500064;9760205;9653658;9610721;8125298;15461667;19683999;20142502;20379614;20801516;21203349;22939629;22661463;22879593;21487335;22219650;20301442;20301607;23251578 10083 E9PNW1;Q9Y6N9 AB006955;AB018687;ABBA01061063;ABBA01061064;AC124799;AF039699;AF039700;AK024943;AK225614;AK290788;AK300936;AL711953;AMYH01003416;BC016057;BK000147;CH471064;NG_011883;NM_005709;NM_153676 AAC18048;AAC18049;AAH16057;ADZ15444;BAA81739;BAA81740;BAB15040;BAF83477;BAG62565;DAA00086;EAW68431;EAW68432;EAW68433;EAW68434;NP_005700;NP_710142;Q9Y6N9 Hs.502072 1721889;5094178 G54591;G59975 AIE-75;DFNB18;DFNB18A;NY-CO-37;NY-CO-38;PDZ-45;PDZ-73;PDZ-73/NY-CO-38;PDZ73;PDZD7C;ush1cpst OTTHUMP00000232612;OTTHUMP00000232613;OTTHUMP00000232614;OTTHUMP00000232615;OTTHUMP00000232616;antigen NY-CO-38/NY-CO-37;autoimmune enteropathy-related antigen AIE-75;harmonin;renal carcinoma antigen NY-REN-3;usher syndrome type-1C protein APPROVED protein-coding ENSG00000006611 12597 09241 276904;602092;605242 REVIEWED 6481274 USP12-AS1 USP12 antisense RNA 1 100874070 AL158062 APPROVED miscrna 39961 6481278 USP12-AS2 USP12 antisense RNA 2 (head to head) 100874071 AL158062;AL159977 APPROVED miscrna 39962 1346185 USP12P1 ubiquitin specific peptidase 12 pseudogene 1 5 5 5 q33-q34 166711202 166713511 + 170611054 170613744 + 170678647 170680956 + 12838346;9615226;20147737;22778262 9959 ABBA01044084;AC010306;AC091980;AF022790;AMYH01015806;NG_002822 UBH1;USP12 ubiquitin specific protease 12 pseudogene 1 pseudo 12610 603091 INFERRED 1351911 USP12PX ubiquitin specific peptidase 12 pseudogene, X-linked X X X q21.31 89845354 89847636 + 89254042 89256484 + 89367445 89369728 + 254700 AL121877;AMYH01022680;NG_002823 1652535 DXS7609 USP12P2 APPROVED pseudo 21410 INFERRED 1312053 USH1G Usher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). [provided by RefSeq, Jul 2008] 17 17 q25.1 70423771 70430946 - 72912176 72919351 - 1599547;6480464;7240710 12588794 15660226;15489334;14702039;12786748;12477932;11941484;11398101;18484607;17896313;16283141;20801516;22876113;19683999;20142502;19028668;21044053;21311020;21767579;22219650;20301442 124590 J3KSN5;Q495M9 ABBA01028822;ABBA01028823;AC068874;AK091243;AK289804;AK296899;AMYH01008629;BC101096;BC101097;BC101098;BC101099;CH471099;NG_007882;NM_173477 AAI01097;AAI01098;AAI01099;AAI01100;BAC03619;BAF82493;BAG59457;EAW89212;NP_775748;Q495M9 Hs.376688 1339436;1340599 D17S1806;D17S1830 ANKS4A;FLJ33924;SANS Usher syndrome type-1G protein;scaffold protein containing ankyrin repeats and SAM domain APPROVED protein-coding ENSG00000182040 16356 09648 606943;607696 REVIEWED 1343926 USP12PY ubiquitin specific peptidase 12 pseudogene, Y-linked Y Y p11.2 3610541 3612983 + 3550599 3552883 + 12815422;9847074 359799 ABBA01069806;AC024038;NG_002824 1652535 DXS7609 USP12P3 ubiquitin specific protease 12 pseudogene 3 APPROVED pseudo 23195 INFERRED 1317587 USP12 ubiquitin specific peptidase 12 13 13 13 q12.13 8709187 8814916 - 26540433 26644028 - 27640287 27746033 - 1580863;6480464 9615226;19075014;15489334;15057823;12838346;12477932;21314694;19615732;19915573;20147737;21832049;21183687;22778262 219333 O75317 ABBA01035752;AF022789;AK289685;AL049221;AL158062;AL355473;AMYH01004985;BC026072;CH471075;NM_182488 AAC23551;AAH26072;ABM85000;BAF82374;EAX08392;EAX08393;NP_872294;O75317 Hs.42400 1654330;1671306;1671354;1672975;1736340;1754771;5021270;5124862 A008V43;D13S1148;D13S746;D13S842E;RH65149;RH65983;RH69291;SHGC-33385 UBH1;USP12L1 OTTHUMP00000018161;deubiquitinating enzyme 12;ubiquitin carboxyl-terminal hydrolase 12;ubiquitin specific protease 12;ubiquitin specific protease 12 like 1;ubiquitin thioesterase 12;ubiquitin thiolesterase 12;ubiquitin-hydrolyzing enzyme 1;ubiquitin-specific-processing protease 12 protein-coding ENSG00000152484 20485 15631 VALIDATED 733099 USO1 USO1 vesicle transport factor The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Transport from the ER to the cis/medial Golgi compartments requires the action of this gene product, GM130 and giantin in a sequential manner. [provided by RefSeq, Jul 2008] 4 4 q21.1 76868853 76954390 + 76649829 76735366 + 6480464;6484113 17353931;9478999;19247479;19028683;18434597;17274799;17081983;16381901;16256943;16189514;15979508;15489336;15489334;14736916;12477932;12438416;12401177;12077354;11927603;11396975;11230166;11076863;11035033;10931861;10903204;9786945;9628863;9150144;1512287;15718469;14702039;12634853;12507498;20126549;16473624;19454686;21147777;21536679;22939629;16051665;20209057;21903422;21139048;21890473;21906983;22792062;23000965;22797925 8615 F5GYR8;F5GZ76;F5H4X1;H0Y7C0;O60763 ABBA01063347;ABBA01063348;ABBA01063349;ABBA01063350;AC104828;AC110615;AK002093;AK314289;AL832010;AL833753;AMYH01014305;AMYH01014306;AMYH01014307;BC006398;BC016672;BC032654;CH471057;D86326;NM_003715 AAH06398;AAH32654;ABM84992;ABW03646;BAA25300;BAG36947;CAD89917;CAL37824;CAL38366;EAX05749;EAX05750;EAX05751;NP_003706;O60763 Hs.744877 1647473;1648171;1665370;1665372;1846316;2043942;2043944;2122172 A001V03;ECD24378;G19677;REN93022;REN93023;RH46891;SHGC-36721;SHGC4-1677 P115;TAP;VDP OTTHUMP00000221102;OTTHUMP00000237572;USO1 homolog, vesicle docking protein;USO1 vesicle docking protein homolog;general vesicular transport factor p115;protein USO1 homolog;transcytosis associated protein;vesicle docking protein p115;vesicle docking protein, 115 kda;vesicle-docking protein APPROVED protein-coding ENSG00000138768 30904 09135 603344 REVIEWED 1315093 USP1 ubiquitin specific peptidase 1 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p31.3 61191184 61206684 + 62674563 62690063 + 62901975 62917475 + 1580863;6480464 21389083;9827704;9806842;19075014;18082604;16381901;15694335;15489336;15489334;14702039;12838346;12477932;11256614;11230166;11076863;8889548;19536649;19615732;19690177;22939629;20147293;16531995;21640107;21768287;21925315;22118674;22195557;22426999;19471022;21139048;21555454;21693764;21890473;21906983;22701671;22987070;22989887;23116119 7398 C9JC88;C9JWX4;O94782 AB014458;AB208893;ABBA01074598;AC096946;AF117386;AK096788;AK312423;AL117503;AL117575;AL599240;AMYH01000667;BC011881;BC018745;BC023216;BC032364;BC040140;BC050525;BI463072;BQ018843;BQ186837;CH471059;NM_001017415;NM_001017416;NM_003368 AAD11441;AAH18745;AAH32364;AAH50525;BAA34703;BAD92130;BAG35333;CAB55967;CAB55999;CAL37634;EAX06585;EAX06586;NP_001017415;NP_001017416;NP_003359;O94782 Hs.35086 2131556;5022693;5124405;5491509 MARC_16461-16462:1019835819:1;RH68890;SHGC-74927;USP1 UBP OTTHUMP00000010530;deubiquitinating enzyme 1;hUBP;ubiquitin carboxyl terminal hydrolase 1;ubiquitin carboxyl-terminal hydrolase 1;ubiquitin specific processing protease 1;ubiquitin specific protease 1;ubiquitin thioesterase 1;ubiquitin thiolesterase 1;ubiquitin-specific-processing protease 1 APPROVED protein-coding ENSG00000162607 12607 04593 603478 REVIEWED 6904251 USP17L10 ubiquitin specific peptidase 17-like family member 10 4 p16.1 9212383 9213975 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287144 C9JJH3 AC108519;NM_001256852 C9JJH3;NP_001243781 Hs.741130 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 10;ubiquitin specific peptidase 17-like family member 10 protein-coding ENSG00000231396 44438 INFERRED 1352341 USP10 ubiquitin specific peptidase 10 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013] 16 16 q24.1 83291056 83371029 + 84733555 84813528 + 1580863;6480464 9827704;18391951;17081983;17004105;16964243;16773218;16368182;16344560;15489334;15302935;15252450;14702039;12838346;12477932;11439350;8724849;18632802;20562859;18029348;19398555;19615732;20096447;20379614;23230274;23287719;23383273;20215869;21962518;19416867;22939629;22118674;21139048;21890473;21906983 9100 H3BNA1;H3BNL0;H3BNP1;H3BNS8;H3BQC6;H3BQP1;H3BVF1;J3KT19;Q14694;Q68D90 ABBA01016899;ABBA01016900;AC009116;AC025280;AK055375;AK293304;AK299618;AK315570;AL162049;AMYH01007871;AMYH01007872;BC000263;BC064516;BX537402;CH471114;CR749515;D80012;DB077919;GD151792;HI179098;NM_001272075;NM_005153;NR_073577;NR_073578 AAH00263;AAH64516;ABM83479;ABM86690;BAA11507;BAG37945;BAG56825;BAG61546;CAB82392;CAD97644;CAH18330;CBX53857;EAW95470;EAW95471;NP_001259004;NP_005144;Q14694 Hs.136778 1684812;1797026;1853143;2119852;5022578;5024669;5113142 A008M09;Cda0dd05;D1S1423;HSC0DD052;RH79887;RH91711;USP10_1613 KIAA0190;MGC2621;UBPO deubiquitinating enzyme 10;ubiquitin carboxyl-terminal hydrolase 10;ubiquitin specific protease 10;ubiquitin thioesterase 10;ubiquitin thiolesterase 10;ubiquitin-specific-processing protease 10 APPROVED protein-coding ENSG00000103194 12608 07029 609818 REVIEWED 6904258 USP17L11 ubiquitin specific peptidase 17-like family member 11 4 p16.1 9217131 9218723 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287178 C9JVI0 AC108519;NM_001256854 C9JVI0;NP_001243783 Hs.722783 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 11;ubiquitin specific peptidase 17-like family member 11 protein-coding ENSG00000233136 44439 INFERRED 6904255 USP17L12 ubiquitin specific peptidase 17-like family member 12 4 p16.1 9221878 9223470 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287205 C9JPN9 AC108519;AMYH01013969;AMYH01013970;AMYH01013971;AMYH01013972;AMYH01013973;AMYH01013974;AMYH01013975;AMYH01013976;NM_001256853 C9JPN9;NP_001243782 Hs.741128 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 12;ubiquitin specific peptidase 17-like family member 12 protein-coding ENSG00000227551 44440 INFERRED 6904261 USP17L13 ubiquitin specific peptidase 17-like family member 13 4 p16.1 9226622 9228214 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287238 C9JLJ4;I3L0E4 AC108519;AMYH01013957;AMYH01013958;AMYH01013959;AMYH01013960;AMYH01013961;AMYH01013962;NM_001256855 C9JLJ4;NP_001243784 Hs.741127 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 13;ubiquitin specific peptidase 17-like family member 13 protein-coding ENSG00000232399 44441 INFERRED 6904264 USP17L14P ubiquitin specific peptidase 17-like family member 14, pseudogene 4 p16.1 9231367 9232959 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287270 AC108519;AMYH01013968;NG_022047 pseudo 44442 INFERRED 6904265 USP17L16P ubiquitin specific peptidase 17-like family member 16, pseudogene 4 p16.1 9240958 9241980 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287302 AC108519;NG_022048 pseudo 44444 INFERRED 6904328 USP17L15 ubiquitin specific peptidase 17-like family member 15 4 p16.1 9236111 9238060 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100288520 C9J2P7 AC108519;AMYH01013981;NM_001256894 C9J2P7;NP_001243823 Hs.528621 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like;ubiquitin carboxyl-terminal hydrolase 17-like protein 15 protein-coding 44443 VALIDATED 1314436 USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) 3 3 3 q26.2-q26.3 177801905 177938115 + 180853635 180984675 + 179370933 179507189 + 1580863;6480464 9827704;9841226;18029348;16381901;16169070;15489336;15231748;12838346;12477932;11927605;11076863;17148452;19615732;20379614;14702039;22939629;23314748;21659512;21962518;21571647;21811243;19013454;21987572;22216260;20972266;21139048;21890473;21906983;21963094;22053931;22505724 8975 H7C502;H7C5J3;Q92995 ABBA01058530;AC007687;AC125604;AK091484;AK290338;AK302404;AMYH01013688;AMYH01013689;AMYH01013690;BC016146;BC049199;BC062766;CH471052;NM_003940;U75362 AAC63405;AAH16146;ABM83398;ABM86610;BAF83027;BAG63715;CAL38193;CAL38270;CAL38486;CAL38655;EAW78383;EAW78384;NP_003931;Q92995 Hs.175322 1340183;1678797;1683072;1735082;1754317;1760167;2132752;2181837 D3S2768E;D3S3377;D3S3565;D3S4112;RH93958;RH99087;SHGC-132346;SHGC-132431 ISOT3;IsoT-3 OTTHUMP00000212449;OTTHUMP00000212450;deubiquitinating enzyme 13;isopeptidase T-3;ubiquitin carboxyl-terminal hydrolase 13;ubiquitin specific protease 13 (isopeptidase T-3);ubiquitin thioesterase 13;ubiquitin thiolesterase 13;ubiquitin-specific-processing protease 13 protein-coding ENSG00000058056 12611 04666 603591 VALIDATED 6904267 USP17L17 ubiquitin specific peptidase 17-like family member 17 4 p16.1 9245605 9247197 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287327 D6RBQ6 ABBA01016357;AC108519;NM_001256857 D6RBQ6;NP_001243786 Hs.741129 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 17;ubiquitin specific peptidase 17-like family member 17 protein-coding ENSG00000249104 44445 INFERRED 6904270 USP17L18 ubiquitin specific peptidase 17-like family member 18 4 p16.1 9250356 9251948 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287364 D6R9N7 ABBA01016357;AC108519;NM_001256859 D6R9N7;NP_001243788 Hs.741138 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 18;ubiquitin specific peptidase 17-like family member 18 protein-coding ENSG00000250844 44446 INFERRED 3029324 USP17L1P ubiquitin specific peptidase 17-like family member 1, pseudogene 8 8 p23.1 7177002 7178911 + 7189909 7191501 + 12838346;15780755;16421571;17109758;10936051;11941478;14699124;16611142;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828;22797925 401447 Q7RTZ2 AF228730;AMYH01018415;BN000116;NM_001256873 CAD66056;NP_001243802;Q7RTZ2 Hs.653091 5107957;5111893;5128287 G01912;G42601;SHGC-145429 USP17L1 deubiquitinating enzyme 17-like protein 1;putative ubiquitin carboxyl-terminal hydrolase 17-like protein 1;ubiquitin specific peptidase 17-like 1 (pseudogene);ubiquitin specific peptidase 17-like 1, pseudogene;ubiquitin thioesterase 17-like protein 1;ubiquitin-specific-processing protease 17-like protein 1 APPROVED protein-coding 37182 VALIDATED 1605214 USP17L2 ubiquitin specific peptidase 17-like family member 2 DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008] 8 8 8 p23.1 11194744 11196336 + 12032086 12033678 - 11994677 11996269 - 19718026;14699124;19615732;20228808;10936051;11941478;15780755;16611142;17109758;19188362;20147298;20228807;20368735;20388806;20403174;20715989;21239494;21448158;9806828 377630 Q6R6M4 ABBA01172073;AC130366;AMYH01018490;AY509884;NM_201402 AAI56291;AAI57074;AAR91701;NP_958804;Q6R6M4 Hs.531448 5106379;5107957;5111893;5128287 G01912;G34441;G42601;SHGC-145429 DUB-3;DUB3;USP17 DUB-3;OTTHUMP00000229955;deubiquitinating enzyme 17-like protein 2;deubiquitinating enzyme 3;deubiquitinating protein 3;ubiquitin carboxyl-terminal hydrolase 17;ubiquitin carboxyl-terminal hydrolase 17-like protein 2;ubiquitin specific peptidase 17-like 2;ubiquitin thioesterase 17-like protein 2;ubiquitin thiolesterase 17-like protein 2;ubiquitin-specific-processing protease 17-like protein 2 APPROVED protein-coding ENSG00000223443 34434 16844 610186 VALIDATED 6904281 USP17L21 ubiquitin specific peptidase 17-like family member 21 4 p16.1 9264598 9266190 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287478 D6R901 AC108519;NM_001256862 D6R901;NP_001243791 Hs.741136 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 21;ubiquitin specific peptidase 17-like family member 21 protein-coding ENSG00000249811 44449 INFERRED 6904287 USP17L19 ubiquitin specific peptidase 17-like family member 19 4 p16.1 9255104 9256696 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287404 D6RCP7 AC108519;NM_001256860 D6RCP7;NP_001243789 Hs.741137 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 19;ubiquitin specific peptidase 17-like family member 19 protein-coding ENSG00000248920 44447 INFERRED 6904284 USP17L20 ubiquitin specific peptidase 17-like family member 20 4 p16.1 9259850 9261442 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287441 D6RJB6 AC108519;AY188990;NM_001256861 AAO38845;D6RJB6;NP_001243790 Hs.722783;Hs.741133 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 20;ubiquitin specific peptidase 17-like family member 20 protein-coding ENSG00000250745 44448 INFERRED 6904427 USP17L22 ubiquitin specific peptidase 17-like family member 22 4 p16.1 9269345 9270937 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 100287513 D6RA61 AC108519;NM_001256863 D6RA61;NP_001243792 Hs.723053 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin carboxyl-terminal hydrolase 17-like protein 22;ubiquitin specific peptidase 17-like family member 22 protein-coding ENSG00000248933 44450 INFERRED 1347156 USP11 ubiquitin specific peptidase 11 Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008] X X p11.23 46977258 46992671 + 47092314 47107727 + 1580863;6480464 14743216;12084015;9827704;18408009;8845848;17897950;15772651;15489334;15314155;14702039;12838346;12532266;12477932;11944989;9931462;9801870;16169070;17353931;21145461;22706160;20601937;19615732;19874889;20562859;22863883;22939629;22990118;23022380;18029348;22195557;22773947;14676191;21726808;22001210;22118674;12938929;19471022;21139048;21890473;21906983;21963094;22411829;22586326;23000965;23337751;23455922;22190034;22505724;22797925 8237 C9JBP8;G5E9A6;P51784;Q5JXD3 AB073597;ABBA01052318;ABBA01052319;ABBA01052320;AK055588;AK098394;AK294635;AL096791;AMYH01022259;BC000350;BC063668;BC073960;BC140849;BQ022385;CH471164;HI574234;NG_012546;NM_004651;U44839 AAC50450;AAH00350;AAH63668;AAI40850;BAC20463;BAG51540;BAG57814;CBX47606;EAW59288;EAW59289;NP_004642;P51784 Hs.171501 1701750;1740209;1772449;2184987;7185889;7185902 DXS1180E;DXS7590;RH35861;WIAF-2542 UHX1 OTTHUMP00000023205;deubiquitinating enzyme 11;ubiquitin carboxyl-terminal hydrolase 11;ubiquitin carboxyl-terminal hydrolase, X-linked;ubiquitin specific protease 11;ubiquitin thioesterase 11;ubiquitin thiolesterase 11;ubiquitin-specific processing protease 11;ubiquitin-specific-processing protease 11 APPROVED protein-coding ENSG00000102226 12609 02081 300050 REVIEWED 6904277 USP17L28 ubiquitin specific peptidase 17-like family member 28 4 p16.1 9350619 9352211 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728400 Q0WX57 AC116655;NM_001242331 NP_001229260 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 28 protein-coding ENSG00000231051 44456 INFERRED 6904297 USP17L26 ubiquitin specific peptidase 17-like family member 26 4 p16.1 9336384 9337976 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728379 Q0WX57 AC116655;AMYH01013956;NM_001242328 NP_001229257 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 26 protein-coding ENSG00000229579 44454 INFERRED 6904300 USP17L25 ubiquitin specific peptidase 17-like family member 25 4 p16.1 9331637 9333229 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728373 Q0WX57 AC116655;NM_001242326 NP_001229255 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 25 protein-coding ENSG00000230430 44452 INFERRED 6904294 USP17L27 ubiquitin specific peptidase 17-like family member 27 4 p16.1 9345874 9347466 + 6480464 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728393 Q0WX57 AC116655;AMYH01013964;NM_001242330 NP_001229259 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 27 protein-coding ENSG00000235780 44455 INFERRED 6904303 USP17L24 ubiquitin specific peptidase 17-like family member 24 4 p16.1 9326891 9328483 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728369 Q0WX57 AC116655;NM_001242327 NP_001229256 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 24 protein-coding ENSG00000232264 44453 INFERRED 6904290 USP17L30 ubiquitin specific peptidase 17-like family member 30 4 p16.1 9364855 9366447 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728419 Q0WX57 ABBA01032499;AC116655;NM_001256867 NP_001243796 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 30 protein-coding ENSG00000228856 44458 INFERRED 6904274 USP17L29 ubiquitin specific peptidase 17-like family member 29 4 p16.1 9355364 9356956 + 10936051;11941478;14699124;15780755;16611142;17109758;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728405 Q0WX57 AC116655;AMYH01013967;NM_001242332 NP_001229261 Hs.553810 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 ubiquitin specific peptidase 17-like family member 29 protein-coding ENSG00000231637 44457 INFERRED 2312696 USP17L4 ubiquitin specific peptidase 17-like family member 4 8 8 p23.1 7181730 7183639 + 7194637 7196229 + 17109758;16421571;15780755;10936051;11941478;14699124;16611142;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 645402 A6NCW7 ABBA01011727;AC130360;AMYH01018415;NM_001256874 A6NCW7;NP_001243803 Hs.741134 5107957;5111893;5128287 G01912;G42601;SHGC-145429 inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4;ubiquitin specific peptidase 17-like 4 APPROVED protein-coding 37176 VALIDATED 2312705 USP17L3 ubiquitin specific peptidase 17-like family member 3 8 8 p23.1 7871325 7873234 - 7833915 7835507 - 17109758;16421571;15780755;10936051;11941478;14699124;16611142;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 645836 A6NCW0 ABBA01001664;AC130365;AMYH01018319;NM_001256871 A6NCW0;NP_001243800 Hs.741131 5107957;5111893;5128287 G01912;G42601;SHGC-145429 USP17B;USP17F deubiquitinating enzyme 17-like protein 3;ubiquitin carboxyl-terminal hydrolase 17-like protein 3;ubiquitin specific peptidase 17-like 3;ubiquitin thioesterase 17-like protein 3;ubiquitin-specific-processing protease 17-like protein 3 APPROVED protein-coding 37175 VALIDATED 2312703 USP17L8 ubiquitin specific peptidase 17-like family member 8 8 8 p23.1 7866593 7868500 - 7829183 7830775 - 17109758;16421571;15780755;10936051;11941478;14699124;16611142;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 392188 P0C7I0 AC130365;AMYH01018319;NM_001256872 NP_001243801;P0C7I0 Hs.741135 5107957;5111893;5128287 G01912;G42601;SHGC-145429 USP17L10 inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8;ubiquitin specific peptidase 17-like 8 APPROVED protein-coding 37181 VALIDATED 2312702 USP17L7 ubiquitin specific peptidase 17-like family member 7 8 8 8 p23.1 11199475 11201067 + 12027335 12029244 - 11989926 11991518 - 16421571;17109758;15780755;19615732;11941478;14699124;16611142;19188362;20147298;20228807;20228808;10936051;20368735;20388806;20403174;20715989;21239494;21448158;9806828 392197 P0C7H9 ABBA01172073;AC130366;AMYH01018490;NM_001256869 NP_001243798;P0C7H9 Hs.741132 5106379;5107957 G01912;G34441 inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7;ubiquitin specific peptidase 17-like 7 APPROVED protein-coding 37180 VALIDATED 2793512 USP17L6P ubiquitin specific peptidase 17-like family member 6, pseudogene 4 4 4 p16.1 9873259 9874373 + 8978698 8979894 + 9369600 9370796 + 15780755;17109758;10936051;11941478;14699124;16611142;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 391622 Q6QN14 ABBA01032499;AC116655;AMYH01013985;AY533200;NR_027279 AAS59847;Q6QN14 Hs.722658 5096683;5106379;5111893;5128287 G01806;G34441;G42601;SHGC-145429 DUB4;USP17L6;vDUB4 APPROVED pseudo ENSG00000205946 37179 VALIDATED 2800946 USP17L5 ubiquitin specific peptidase 17-like family member 5 4 4 p16.1 8950227 8951819 + 9341129 9342721 + 6480464 15780755;15815621;17109758;10936051;11941478;14699124;16611142;19188362;20147298;20228807;20228808;20368735;20388806;20403174;20715989;21239494;21448158;9806828 728386 A8MUK1 AC116655;NM_001242329 A8MUK1;NP_001229258 Hs.740243 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 OTTHUMP00000217749;Ubiquitin carboxyl-terminal hydrolase 17-like protein 5;deubiquitinating enzyme 17-like protein 5;ubiquitin specific peptidase 17-like 5;ubiquitin thioesterase 17-like protein 5;ubiquitin thiolesterase 17-like protein 5;ubiquitin-specific-processing protease 17-like protein 5 APPROVED protein-coding ENSG00000227140 37177 INFERRED 1323483 USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 18 18 p11.32 148483 203739 + 158483 213739 + 1580863;6480464 14702039;12838346;9827704;8579355;18029348;19135427;17553343;17079671;16465409;16211010;15489334;14962675;12477932;19106094;14499622;18162577;19615732;19726649;20237496;22863883;21963094;23000965;23291607;23287719;23615914;23751493;23801757;22939629;21627382;17646385;19013454;19193609;19349277;16196087;18624398;18781797;19471022;21139048;21890473;21906983;21987572;22079093;22118674;22053931;22505724;22626734 9097 A6NJA2;B7Z4N8;J3KS55;J3QQT6;P54578;R4GNB0 ABBA01049807;ABBA01049808;ABBA01049809;AK095516;AK098497;AK297605;AK315438;AMYH01008769;AP000845;BC003556;BG717018;BT007183;BU161860;CA438203;CH471113;CR976282;NM_001037334;NM_005151;U30888 AAB60365;AAH03556;AAP35847;ABM84688;ABM92211;BAG37826;BAG53076;BAH12624;EAX01735;EAX01736;EAX01737;EAX01738;NP_001032411;NP_005142;P54578 Hs.464416;Hs.707058 1652306;1734558;1775114;2135013;2138942;2149994;2149996;2158932;2187231;2218636;5113188 A003A48;D18S1244;D18S1294;D18S898E;D18S918E;RH47243;RH65814;RH65926;RH80953;SHGC-30016;USP14__5036 TGT deubiquitinating enzyme 14;tRNA-guanine transglycosylase, 60-kD subunit;ubiquitin carboxyl-terminal hydrolase 14;ubiquitin specific protease 14 (tRNA-guanine transglycosylase);ubiquitin thioesterase 14;ubiquitin thiolesterase 14;ubiquitin-specific processing protease 14;ubiquitin-specific-processing protease 14 APPROVED protein-coding 12612 06279 607274 REVIEWED 733296 USP15 ubiquitin specific peptidase 15 This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011] 12 12 12 q14 62323221 62468927 + 60940454 61086165 + 62654121 62803501 + 1580863;6480464 16298993;9827704;17353931;10444327;19576224;18029348;16964243;22706160;21145461;16005295;14702039;12838346;12477932;12168954;9628581;21219870;19553310;19615732;20379614;23105109;23184937;20811636;19665996;21848306;21947082;22001210;22863883;22939629;23022380;19373254;18781797;21987572;22118674;20622874;21139048;21890473;21963094;22344298;22424883;19380743;22451720;22626734;22952844 9958 E9PCQ3;F8VVY7;F8VZG8;F8W0H4;H0YH96;H0YHM4;H0YI26;H0YI31;Q9Y4E8 AB011101;ABBA01026635;ABBA01026636;ABBA01026637;ABBA01026638;AC048342;AC079035;AC117370;AF013990;AF106069;AF153604;AI027693;AK023703;AK292337;AK295947;AK297759;AMYH01004537;BC020688;BC063454;BC110908;BC125123;CH471054;DB451322;NM_001252078;NM_001252079;NM_006313 AAD41086;AAD52099;AAG28973;AAH20688;AAH63454;AAI10909;AAI25124;BAA25455;BAB14648;BAF85026;BAG60108;BAH12226;EAW97104;EAW97105;EAW97106;NP_001239007;NP_001239008;NP_006304;Q9Y4E8 Hs.434951 1649956;1654854;1736222;1746117;1746569;1760285;1771463;1853088;2135402;2144951;2168477;2178881;2181103;2181413;5022602;5093750 A009W03;D12S1150E;D12S1165E;D12S2133;G32901;G64379;G64474;RH44644;RH44965;RH77885;SHGC-132865;SHGC-53734;SHGC-57599;STS-D29601;STS-H58004;STS-R17914 FLJ55073;KIAA0529;MGC131982;MGC149838;MGC74854;UNPH-2;UNPH4 OTTHUMP00000243156;OTTHUMP00000243158;deubiquitinating enzyme 15;ubiquitin carboxyl-terminal hydrolase 15;ubiquitin specific protease 15;ubiquitin thioesterase 15;ubiquitin thiolesterase 15;ubiquitin-specific-processing protease 15;unph-2 APPROVED protein-coding ENSG00000135655 12613 05293 604731 REVIEWED 1349777 USP17L9P ubiquitin specific peptidase 17-like family member 9, pseudogene 4 4 p15 8969207 8970799 + 9360108 9361700 + 6480464 22662218;17109758;15815621;15780755;12838346;12477932;11941478;11181995;10936051;9806828;9192848;19615732;20147298;20388806;20368735;21239494;21448158;14699124 391627 AC116655;AF544011;AF544012;BC100991;BC100992;BC100993;CH471069;D38378;NR_046416 AAQ11741;AAQ11742;EAW92671;Q0WX57 Hs.553810;Hs.631527;Hs.723053 5096683;5106379;5107957;5111893;5128287 G01806;G01912;G34441;G42601;SHGC-145429 MGC119330;MGC119331;MGC119333;RS447;USP17;USP17A;USP17H;USP17I;USP17J;USP17K;USP17L;USP17M deubiquitinating enzyme 17;deubiquitinating enzyme 3-like;ubiquitin carboxyl-terminal hydrolase 17;ubiquitin specific protease 17;ubiquitin thioesterase 17;ubiquitin thiolesterase 17;ubiquitin-specific-processing protease 17 APPROVED pseudo ENSG00000251694 12615 607011 VALIDATED 1344113 USP19 ubiquitin specific peptidase 19 3 3 3 p21.31 49103060 49115165 - 49121112 49133217 - 49145479 49158371 - 1580863;6480464 15302935;12838346;12477932;10048485;22706160;19465887;19615732;16226712;22863883;22939629;19875381;21264218;21628590;22810585;21987572;22118674;22128162;21849505;21139048;21890473;21906983;23000965;23500468 10869 B5MEG5;C9J8M4;E7EST9;E7ESU0;H0YB23;Q3KQW4 AB020698;ABBA01024612;AC135506;AK294756;AK296447;AK300425;AMYH01013155;BC014934;BC048269;BC065909;BC082241;BC106029;BC128088;BC142660;BC142727;BC146752;CH471055;DC323791;DC332671;EF036501;NM_001199160;NM_001199161;NM_001199162;NM_006677 AAH48269;AAH65909;AAH82241;AAI06030;AAI42661;AAI42728;AAI46753;ABO65087;BAA74914;BAG57894;BAG59098;BAG62152;EAW64955;EAW64956;EAW64957;NP_001186089;NP_001186090;NP_001186091;NP_006668;O94966 Hs.255596;Hs.734003 1646732;1647929;2112652;2112688;2124447;2148532 D3S3922;D3S4387;D3S4404;RH12486;STS-H14516;WI-21449 ZMYND9 OTTHUMP00000164974;OTTHUMP00000164975;OTTHUMP00000164977;OTTHUMP00000164978;OTTHUMP00000210659;OTTHUMP00000210660;OTTHUMP00000210661;deubiquitinating enzyme 19;ubiquitin carboxyl-terminal hydrolase 19;ubiquitin specific protease 19;ubiquitin thioesterase 19;ubiquitin thiolesterase 19;ubiquitin-specific-processing protease 19;zinc finger MYND domain-containing protein 9 protein-coding ENSG00000172046 12617 18278 614471 VALIDATED 1316236 USP16 ubiquitin specific peptidase 16 This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 21 21 21 q22.11 15580416 15610282 + 29318809 29348680 + 30396938 30426809 + 1580863;6480464 17914355;17512543;10077596;18925961;15489334;15302935;15231747;14702039;12838346;12477932;12107411;10830953;9827704;8125298;19615732;23287719;15171253;22939629;22195557;15840729;22118674;21139048;21890473;21906983;21090589 10600 B4DUS4;H9KVB6;Q5VKN8 ABBA01057248;AF113219;AF126736;AF129075;AK023247;AK025104;AK025989;AK090776;AK222681;AK222884;AK294284;AK300771;AK302247;AL163249;AMYH01012188;AY333928;BC010375;BC030777;BQ637016;CB960929;CH471079;NM_001001992;NM_001032410;NM_006447;W57837 AAD20949;AAG39290;AAH30777;AAR13293;ABM83321;ABM86536;BAD96401;BAD96604;BAG51175;BAG57569;BAG62436;BAG63599;CAB90432;EAX09927;EAX09928;EAX09929;NP_001001992;NP_001027582;NP_006438;Q9Y5T5 Hs.99819 1657559;1699610;2218860;5017849 RH103406;SHGC-54553;USP16;USP16__5038 UBP-M OTTHUMP00000096468;OTTHUMP00000096469;OTTHUMP00000096470;deubiquitinating enzyme 16;ubiquitin carboxyl-terminal hydrolase 16;ubiquitin specific protease 16;ubiquitin thioesterase 16;ubiquitin thiolesterase 16;ubiquitin-processing protease UBP-M;ubiquitin-specific processing protease 16;ubiquitin-specific-processing protease 16 APPROVED protein-coding ENSG00000156256 12614 06881 604735 REVIEWED 6481082 USP24P1 ubiquitin specific peptidase 24 pseudogene 1 13 19589627 19593476 - 100874248 ABBA01068543;AL137001;AMYH01004934;NG_032390 pseudo 42014 INFERRED 1353279 USP18 ubiquitin specific peptidase 18 The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011] 22 22 q11.21 17012758 17040164 + 18632758 18660164 + 1549873;1580863;6480464 11788588 12838346;10777664;17374743;16381901;15489336;15489334;15461802;15342634;12477932;11313150;11230166;11076863;10722734;16189514;22683641;21592959;22100648;11256614;16710296;19551150;19615732;20068173;20935222;22170061;21963094;23291318;22752428;23152055;22626734;22677194;22731491 11274 Q53Y90;Q9UMW8 ABBA01001420;AC008079;AF176642;AI222587;AJ243526;AK313385;AL136690;AMYH01012441;BC014896;BI752849;BT006835;BU584005;CH471193;CR457216;CT841507;NM_017414 AAD49967;AAH14896;AAP35481;BAG36183;CAB66625;CAB76398;CAG33497;CAJ86437;CAK54503;CAK54802;CAL38273;EAW57790;EAW57791;NP_059110;Q9UMW8 Hs.38260 2112402;5124776 D22S1604;RH98956 ISG43;UBP43 43 kDa ISG15-specific protease;ISG15-specific-processing protease;OTTHUMP00000196334;hUBP43;ubiquitin specific protease 18;ubl carboxyl-terminal hydrolase 18;ubl thioesterase 18;ubl thiolesterase 18 APPROVED protein-coding ENSG00000184979 12616 06136 607057 VALIDATED 1313758 USP20 ubiquitin specific peptidase 20 This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013] 9 9 9 q34.11 103248726 103295216 + 131637570 131683928 + 132597696 132644107 + 1580863;6480464 21525354;18029348;19424180;17081983;16344560;15776016;15342556;12865408;12838346;12477932;12056827;10369878;10231032;17350623;19615732;19851296;20198315;8889548;23166351;22552337;22118674;22626734 10868 Q9UQN9;Q9Y2K6 AB023220;ABBA01043951;ABBA01043952;AL158207;AMYH01021765;AY074877;BC033669;BC039593;BF727180;BM678735;BP246486;BQ882312;BX462233;CH471090;DA791069;NG_033097;NM_001008563;NM_001110303;NM_006676;Y17457;Y17458;Y17459 AAH39593;AAL79676;BAA76847;CAB44350;CAB44351;CAB44352;EAW87911;EAW87912;EAW87913;EAW87914;EAW87915;NP_001008563;NP_001103773;NP_006667;Q9Y2K6 Hs.5452 1657106;1686907;1740113;1763563;2110023 D9S1766;RH12701;SHGC-147266;SHGC-58438;USP20_9189 KIAA1003;LSFR3A;VDU2;hVDU2 OTTHUMP00000022346;OTTHUMP00000022347;OTTHUMP00000022348;VHL-interacting deubiquitinating enzyme 2;deubiquitinating enzyme 20;hVDU2;pVHL-interacting deubiquitinating enzyme 2;ubiquitin carboxyl-terminal hydrolase 20;ubiquitin specific protease 20;ubiquitin thioesterase 20;ubiquitin thiolesterase 20;ubiquitin-specific-processing protease 20 protein-coding ENSG00000136878 12619 07505 615143 REVIEWED 1350698 USP27X ubiquitin specific peptidase 27, X-linked X X X p11.23 53713777 53716476 + 49530949 49533210 + 49644470 49647169 + 6480464 18029348;12838346;10737800;19615732;21890473 389856 A6NNY8 ABBA01063290;AC236430;AF238380;AMYH01022321;AW290976;AY672104;CH471180;NM_001145073 A6NNY8;EAW89930;NP_001138545 Hs.143587 USP22L;USP27 X-linked ubiquitin carboxyl-terminal hydrolase 27;deubiquitinating enzyme 27;ubiquitin carboxyl-terminal hydrolase 22-like;ubiquitin carboxyl-terminal hydrolase 27;ubiquitin specific protease 27, X chromosome;ubiquitin thioesterase 27;ubiquitin thiolesterase 27;ubiquitin-specific-processing protease 27 protein-coding ENSG00000242013 13486 PROVISIONAL 1349681 USP21 ubiquitin specific peptidase 21 This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] 1 1 1 q22 134196407 134202669 + 159395878 159402140 + 161129254 161135516 + 1580863;6480464 21399617;15231747;10786635;15489334;12477932;10799498;8889549;19615732;19910467;16341674;22118674;20622874;21906983;22298430;21888622;22195557;20467438;23105109;23287719;23395819;22626734 27005 Q9NSS9;Q9UK80 AB208899;ABBA01016596;AF177758;AF217979;AF233442;AI038040;AK292319;AK310326;AL157417;AL590714;AMYH01001457;BC003130;BC090946;BC136291;BI463191;BI755746;BM742944;CH471121;N76159;NM_001014443;NM_012475;T77123 AAD54321;AAF61308;AAG17222;AAH03130;AAH90946;AAI36292;BAD92136;BAF85008;CAB75649;EAW52642;EAW52643;EAW52644;EAW52645;NP_001014443;NP_036607;Q9UK80 Hs.8015 1652326;1683098;1685530;1694586;2145731;2174574;2174576;2175448 A002D06;D1S3338;G19947;G43283;NIB1690;RH15837;RH75;RH8143 MGC3394;USP16;USP23 NEDD8-specific protease;OTTHUMP00000031883;OTTHUMP00000031884;deubiquitinating enzyme 21;ubiquitin carboxyl-terminal hydrolase 21;ubiquitin specific protease 21;ubiquitin thioesterase 21;ubiquitin thiolesterase 21;ubiquitin-specific processing protease 21;ubiquitin-specific protease 16;ubiquitin-specific-processing protease 21 APPROVED protein-coding ENSG00000143258 12620 05291 604729 REVIEWED 731337 USP2 ubiquitin specific peptidase 2 This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] 11 11 q23.3 118732163 118757575 - 119225925 119252436 - 1580863;6480464 9827704;16189514;18029348;17553343;17290220;16344560;15489334;15050917;14743216;14702039;12838346;12566314;12477932;9325273;18701608;21480224;20403044;16905103;19615732;19838211;19917254;22990118;16325574;21832049;21890637;16196087;16306228;21478478;21293491;21826056;19373254;19436748;14695475;22710717;22751931;23105109;23211065;23264041;23287719;22024150;22118674;22179575;22370483;22669941;20516210;20622874;12821332;23263486;14686789;22626734;22659130 9099 E9PJ34;E9PPM2;E9PSH6;O75604 ABBA01039670;ABBA01039671;ABBA01039672;AF079564;AF440755;AI806430;AK057225;AK292255;AK301805;AMYH01004083;AMYH01004084;AP003396;BC002854;BC002955;BC041366;CH471065;DB065104;DB088349;DB098786;EF445044;NG_029825;NM_001243759;NM_004205;NM_171997 AAC28392;AAH02854;AAH02955;AAH41366;AAN65363;ABM83458;ABM86669;ACA06096;ACA06097;BAB71388;BAF84944;BAH13558;EAW67484;EAW67485;EAW67486;NP_001230688;NP_004196;NP_741994;O75604 Hs.524085 1719919;2161552;5492007 RH123652;SHGC-37028;ksks269 UBP41;USP9 41 kDa ubiquitin-specific protease;OTTHUMP00000232156;OTTHUMP00000232157;OTTHUMP00000232158;deubiquitinating enzyme 2;ubiquitin carboxyl-terminal hydrolase 2;ubiquitin specific protease 12;ubiquitin specific protease 2;ubiquitin specific protease 9;ubiquitin thioesterase 2;ubiquitin thiolesterase 2;ubiquitin-specific-processing protease 2 APPROVED protein-coding ENSG00000036672 12618 05287 604725 REVIEWED 1321210 USP22 ubiquitin specific peptidase 22 17 17 p11.2 20843498 20886944 - 20902906 20946352 - 1580863;6480464 18206973;18206972;16378762;18469533;15931389;12838346;12477932;11707075;10470851;16169070;22447106;20824490;18838386;19615732;21337558;21039844;23217440;23300749;21691749;21746879;21928107;21779003;21773699;21139048;21890473;21906983;21735131;22067483;21900206;22118674;19843541;22542455;22880026;23382074;23412977;21963094;21987572;22053931;23000965;22505724 23326 J3QRV6;J3QS30;K7ERX6;K7ESK0;Q9UPT9 AB028986;ABBA01050453;AC087393;AK025331;AK130677;AL049258;AL110213;AMYH01008267;BC007196;BC013364;BC025317;BC050994;BC084550;BC110499;BC126898;BX640815;NM_015276 AAH07196;AAH25317;AAI10500;AAI26899;BAA83015;CAE45893;NP_056091;Q9UPT9 Hs.462492 1338159;1694672;1721067;1754731;2160536;5037552 D17S689;D8S2279;G43517;G59516;SHGC-133091;SHGC-64270 KIAA1063;USP3L OTTHUMP00000164990;deubiquitinating enzyme 22;ubiquitin carboxyl-terminal hydrolase 22;ubiquitin specific peptidase 3-like;ubiquitin specific protease 22;ubiquitin thioesterase 22;ubiquitin thiolesterase 22;ubiquitin-specific processing protease 22;ubiquitin-specific-processing protease 22 protein-coding ENSG00000124422 12621 612116 VALIDATED 1319103 USP25 ubiquitin specific peptidase 25 Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008] 21 21 q11.2 16024367 16174248 + 17102496 17252377 + 1580863;6480464 10644437;18538659;18523997;16501887;14702039;12838346;12477932;11597335;10830953;10612803;21145461;22195557;22590560;21738487;15231748;19165232;19440361;19615732;19909739;20379614;19760754;22863883;22939629;21480003;19013454;22118674;20972266;21139048;21890473;21906983;21963094;22053931 29761 H7C1T8;H7C253;Q96B65;Q9UHP3 ABBA01057088;ABBA01057089;ABBA01057090;AF134213;AF170562;AJ010597;AJ010598;AK022447;AK022574;AK094083;AMYH01012142;BC015930;BC018686;BC075792;BI256537;BQ215557;CH471079;FJ763652;NM_013396 AAF24998;AAF32263;AAH15930;AAH75792;ACN76567;BAB14037;BAB14107;EAX10041;EAX10042;EAX10043;EAX10044;EAX10045;NP_037528;Q9UHP3 Hs.743994 1651189;1652692;1652694;1653213;1681973;1730839;1732107;1794804;2164041;2171566;2220018 A002B43;D21S1830;D21S189;D21S382;G18012;G19905;G34705;PMC57798P1;RH36201;SHGC-52068;USP25__5042 USP21 OTTHUMP00000083055;OTTHUMP00000083056;USP on chromosome 21;deubiquitinating enzyme 25;ubiquitin carboxyl-terminal hydrolase 25;ubiquitin specific protease 25;ubiquitin thioesterase 25;ubiquitin thiolesterase 25;ubiquitin-specific processing protease 25;ubiquitin-specific-processing protease 25 APPROVED protein-coding ENSG00000155313 12624 05296 604736 VALIDATED 1315382 USP29 ubiquitin specific peptidase 29 19 19 19 q13.43 54675198 54686985 + 62323321 62335106 + 57631509 57643294 + 1580863;6480464 10958632;12838346;12477932;19615732;21285945 57663 M0QZL0;M0R2Y1;Q9HBJ7 ABBA01020818;AC025588;AF124433;AF229438;AK308285;AMYH01010026;BC130394;BC130398;HC044595;NM_020903 AAG10401;AAI30395;AAI30399;ADR83412;CBH30627;NP_065954;Q9HBJ7 Hs.515632 1341613;1794280;2218638 D19S887;PMC310910P2;USP29__5044 HOM-TES-84/86;MGC163266;MGC163270 deubiquitinating enzyme 29;ubiquitin carboxyl-terminal hydrolase 29;ubiquitin specific protease 29;ubiquitin thioesterase 29;ubiquitin thiolesterase 29;ubiquitin-specific processing protease;ubiquitin-specific-processing protease 29 protein-coding ENSG00000131864 18563 07163 609546 VALIDATED 1354275 USP26 ubiquitin specific peptidase 26 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008] X X q26.2 131987173 131989966 - 132159507 132162300 - 1580863;6480464 18377898;18062861;22568204;18958354;18927127;22939629;18029348;17968467;17121659;16888075;15970005;15772651;15562280;15489334;12838346;12477932;11279525;19615732;20378615;20501646;21147082;17955473 83844 Q495F8;Q9BXU7 ABBA01042294;AF285593;AK292527;AMYH01022988;BC069073;BC101189;BC101190;BC101191;BC101192;CH471107;NG_013268;NM_031907;Z81365 AAH69073;AAI01190;AAI01191;AAI01192;AAK31972;BAF85216;EAX11774;NP_114113;Q9BXU7 Hs.333137 1789464;2110025 G65777;USP26__5043 MGC120066;MGC120067;MGC120068 OTTHUMP00000024046;OTTHUMP00000217678;deubiquitinating enzyme 26;ubiquitin carboxyl-terminal hydrolase 26;ubiquitin specific protease 26;ubiquitin thioesterase 26;ubiquitin thiolesterase 26;ubiquitin-specific processing protease 26;ubiquitin-specific-processing protease 26 APPROVED protein-coding 13485 02255 300309 REVIEWED 6767409 USP30-AS1 USP30 antisense RNA 1 12 q24.11 109489846 109491770 - 18487259 100131733 AA143146;AB371497;ABBA01005060;AC011596;AI572633;AMYH01004734;AW977362;NR_038996 Hs.660996 5021400 RH48223 APPROVED miscrna 40909 VALIDATED 1317813 USP31 ubiquitin specific peptidase 31 16 16 16 p12.2 21850471 21938333 - 22980229 23068092 - 23072728 23160591 - 6480464 18029348;16341674;16214042;15354349;14715245;14702039;12838346;10574462 57478 I3L4X5;Q70CQ4 AB033029;ABBA01017827;ABBA01017828;AC099482;AC127459;AJ586135;AK057491;AK092790;AK126447;AK126752;AMYH01007380;BM842261;BX648357;CH471145;NM_020718 AAI56335;BAA86517;BAC86554;BAG52610;CAE51935;CAH10383;EAW55835;EAW55836;NP_065769;Q70CQ4 Hs.183817 1664329;1673840;1738721;2117238;2121231;2179541 D16S2823;RH35845;SHGC-35920;SHGC-60522;SHGC-61085;STS-W67951 KIAA1203 OTTHUMP00000120022;deubiquitinating enzyme 31;ubiquitin carboxyl-terminal hydrolase 31;ubiquitin specific protease 31;ubiquitin specific proteinase 31;ubiquitin thioesterase 31;ubiquitin thiolesterase 31;ubiquitin-specific-processing protease 31 protein-coding ENSG00000103404 20060 15634 VALIDATED 1323075 USP28 ubiquitin specific peptidase 28 The ubiquitin-dependent protein degradation pathway is essential for proteolysis of intracellular proteins and peptides. Enzymes that remove ubiquitin from ubiquitin-conjugated peptides, like USP28, affect the fate and degradation of intracellular proteins and are essential for maintenance of cell-free ubiquitin pools (Valero et al., 2001).[supplied by OMIM, Mar 2008] 11 11 11 q23 110821475 110899132 - 113173807 113251466 - 113668597 113746256 - 1580863;6480464 18029348;17873522;17558397;16901786;14702039;12838346;12477932;11597335;10819331;18662541;19615732;22939629;19850743;22118674;19471022;21139048;21890473;21906983;22144179;19322201;21252943;22626734 57646 B4E3L3;F5GZ74;F5H2G4;F5H6Q3;G3V1N5;H0YFA0;H0YFD7;H0YFT9;H0YFX3;H0YG96;H0YH19;Q6NZX9;Q96RU2 AB040948;ABBA01039778;ABBA01039779;ABBA01039780;ABBA01039781;ABBA01039782;AF266283;AK027521;AK097623;AK304376;AK304770;AMYH01004039;AMYH01004040;AP001874;AP003170;BC035986;BC065928;BF434481;BU940680;CD704003;CH471065;EF445045;NM_020886 AAH65928;AAK58565;ACA06098;BAA96039;BAB55172;BAG65214;BAG65525;EAW67231;EAW67232;EAW67233;EAW67234;EAW67235;NP_065937;Q96RU2 Hs.503891 KIAA1515 OTTHUMP00000238295;OTTHUMP00000238297;deubiquitinating enzyme 28;ubiquitin carboxyl-terminal hydrolase 28;ubiquitin specific protease 28;ubiquitin thioesterase 28;ubiquitin thiolesterase 28;ubiquitin-specific-processing protease 28 APPROVED protein-coding ENSG00000048028 12625 15632 610748 VALIDATED 1315618 USP24 ubiquitin specific peptidase 24 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008] 1 1 1 p32.3 53819636 53968611 - 55304620 55453350 - 55532032 55681039 - 1580863;6480464 17081983;16964243;16917932;15489334;15302935;15146197;15144186;14715245;14702039;12838346;12477932;11181995;10470851;20302855;23159851;22863883;17620599;22586326;20639865;21987572;22118674;21139048;21890473;21906983;22923019;22505724;22916037 23358 B7WPF4;Q9UPU5 AB028980;ABBA01074698;ABBA01074699;AC091609;AK000321;AK055871;AK127075;AL832370;AMYH01000641;BC029660;BU156226;BX953826;CH471059;CN255594;NM_015306 AAH29660;AAI60138;BAA83009;BAA91084;BAC86814;EAX06657;EAX06658;EAX06659;NP_056121;Q9UPU5 Hs.477009 1670764;1774644;1774646;1781434;1851709;2108637;2184136;5016403 A001W25;D1S2431;G02304;G19716;SHGC-111494;SHGC-74875;SHGC-74876;USP24__5041.2 FLJ31309;KIAA1057 OTTHUMP00000009832;deubiquitinating enzyme 24;ubiquitin carboxyl-terminal hydrolase 24;ubiquitin specific protease 24;ubiquitin thioesterase 24;ubiquitin thiolesterase 24;ubiquitin-specific processing protease 24;ubiquitin-specific-processing protease 24 APPROVED protein-coding ENSG00000162402 12623 610569 VALIDATED 5552949 USP32P3 ubiquitin specific peptidase 32 pseudogene 3 17 17 p11.1 20267265 20277036 + 20326774 20336345 + 11997339 347716 AC015818;AMYH01008239;NG_002719 1713893 RH119377 pseudo 43576 INFERRED 6481085 USP32P4 ubiquitin specific peptidase 32 pseudogene 4 17 60360054 60366150 - 100874252 ABBA01035357;AC053481;AMYH01008543;NG_032561 pseudo 43577 INFERRED 7245415 USP3-AS1 USP3 antisense RNA 1 12477932;14702039 100130855 ABBA01038909;AC118274;AK093077;AMYH01006704;BC017581;BC036918;DB444752;NR_034080 Hs.631163 1663562;1667468;1670408;1698348;1748503;2116164;2148196 Cda0wh05;D15S1196;RH102715;SHGC-131175;STS-R06895;WI-14801;WI-16537 miscrna ENSG00000259248 44140 VALIDATED 1318862 USP3 ubiquitin specific peptidase 3 15 15 15 q22.3 40676343 40763066 + 61583863 61670716 + 63796710 63886839 + 1580863;6480464 10480896;17980597;14702039;12838346;12477932;19615732;20379614;20445134;22743239;22939629;21139048;21890473;21906983;19322201;16344560;21987572;22118674;22505724 9960 B4DV65;B4DWJ6;H0YKU8;H0YL81;H0YLB7;H0YLG0;H0YLJ0;H0YM72;H0YMI4;H0YMP6;H0YMW1;H0YNK1;H0YNX9;Q6JHV3;Q9Y6I4 ABBA01038909;ABBA01038910;AC007950;AC118274;AF073344;AF077040;AI695842;AK022931;AK094444;AK300948;AK301236;AK301563;AK307810;AK309382;AK314223;AMYH01006703;AMYH01006704;AY461579;BC018113;BC065300;BC100029;BC107137;BC107138;BT007269;BX647760;CH471082;DA557812;NM_001256702;NM_006537;NR_046341;NR_046342 AAD27773;AAD42992;AAH18113;AAH65300;AAI00030;AAI07138;AAI07139;AAP35933;AAT37507;ABM81951;ABM85131;BAG51139;BAG62577;BAG62807;BAG63058;EAW77651;NP_001243631;NP_006528;Q9Y6I4 Hs.458499 1663562;1667468;1670408;1698348;1738949;1748503;2148196;2171524;5015404;5016781;5037552 Cda0wh05;D15S1196;D15S853;D8S2279;L17705;RH102715;RH47970;SHGC-131175;SHGC-67307;STS-R06895;WI-16537 MGC129878;MGC129879;SIH003;UBP deubiquitinating enzyme 3;ubiquitin carboxyl-terminal hydrolase 3;ubiquitin specific protease 3;ubiquitin thioesterase 3;ubiquitin thiolesterase 3;ubiquitin-specific-processing protease 3 protein-coding 12626 05290 604728 VALIDATED 1602174 USP32P2 ubiquitin specific peptidase 32 pseudogene 2 17 17 p11.2 18355301 18365291 - 18414576 18424566 - 12477932;11997339;19615732 220594 ABBA01002319;AC107983;AJ012755;AK124785;AK308293;AMYH01008175;BC075826;BC126273;NR_003554 CAA10171 Hs.234573;Hs.462475 1713893;5022651;5095864;5114870 D11S2921;D17S1980;RH119377;SHGC-57390 FLJ98241;TL132 APPROVED pseudo ENSG00000233327 30751 17321 VALIDATED 5552925 USP32P1 ubiquitin specific peptidase 32 pseudogene 1 17 p11.2 16690206 16707819 + 11997339;12477932;16344560 162632 ABBA01177868;AC022596;AC098850;AK302945;AK311696;AK316466;AMYH01008152;AY363305;BC039345;BC063453;DA118870;NR_003190 AAQ72371;BAG64102;BAH14837 Hs.743553 1713893;5095864;5114870 D17S1980;RH119377;SHGC-57390 FLJ18738 pseudo ENSG00000188933 43570 VALIDATED 1317441 USP30 ubiquitin specific peptidase 30 USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008] 12 12 12 q24.11 109114313 109149755 + 107974774 108008570 + 109490380 109525831 + 6480464 18287522;15489334;15146197;14715245;14702039;12838346;12477932;19615732;22118674 84749 B3KUS5;F5GXG2;F5H3L3;F5H8D3;Q70CQ3 AA856774;ABBA01005060;AC011596;AI867665;AJ586136;AK027820;AK097830;AL834278;AMYH01004734;AMYH01004735;BC004868;BC022094;BG149730;BX095894;CH471054;CN367077;NM_032663 AAH04868;AAH22094;ABM84327;ABM87782;BAB55392;BAG53537;CAE51936;EAW97842;EAW97843;EAW97844;NP_116052;Q70CQ3 Hs.486434;Hs.660996 1646315;1768560;1772394;2140868;2165930;5021400 D20S1119;RH45029;RH45951;RH48223;STS-D60111;WI-20815 FLJ40511;MGC10702 OTTHUMP00000164980;OTTHUMP00000164981;deubiquitinating enzyme 30;ub-specific protease 30;ubiquitin carboxyl-terminal hydrolase 30;ubiquitin specific protease 30;ubiquitin thioesterase 30;ubiquitin thiolesterase 30;ubiquitin-specific protease 30;ubiquitin-specific-processing protease 30 APPROVED protein-coding ENSG00000135093 20065 15633 612492 VALIDATED 1315395 USP32 ubiquitin specific peptidase 32 17 17 17 q23.3 54714573 54774210 - 55609473 55824368 - 58254691 58469586 - 6480464 17081983;14702039;12838346;12604796;12477932;10508479;21145461;19615732;20379614;20549504;23105109;21890473;21906983;22118674 84669 K7EII4;K7EKK3;K7EKZ1;K7EL53;K7EN13;K7ENU6;K7EPL4;K7EQL6;Q7Z5T3;Q8NFA0 ABBA01035410;ABBA01035411;ABBA01035412;ABBA01035413;ABBA01035414;ABBA01035415;ABBA01035416;ABBA01035417;AC003962;AC025048;AC037475;AC104763;AF155116;AF350251;AF533230;AK057301;AK091680;AMYH01008527;AMYH01008528;AY163319;BC054344;BC070497;BC094680;BI459907;CH471109;NM_032582 AAD42882;AAH54344;AAH70497;AAH94680;AAI56265;AAK30207;AAM97922;AAO21353;EAW94356;EAW94357;EAW94358;NP_115971;Q8NFA0 Hs.744129 1340430;1693676;1732964;1754601;2120676;2154227;2177264;2177385;5114870;7185369 AFMa274wh5;D17S2128;D17S923;D1S1350;RH44395;SHGC-132932;SHGC-57390;SHGC-58603;STS-N68447 NY-REN-60;USP10 deubiquitinating enzyme 32;renal carcinoma antigen NY-REN-60;ubiquitin carboxyl-terminal hydrolase 32;ubiquitin specific protease 32;ubiquitin thioesterase 32;ubiquitin thiolesterase 32;ubiquitin-specific-processing protease 32 protein-coding 19143 07612 607740 VALIDATED 1353275 USP35 ubiquitin specific peptidase 35 11 11 11 q14.1 75208342 75234241 + 77577606 77603401 + 77899858 77925757 + 1580863;6480464 15146197;14715245;14702039;12838346;12477932;10718198;19913121;20628086;16344560;20237496;22118674 57558 B3KPE1;E7EWV7;E9PK78;E9PRM2;H0YEP1;Q9P2H5 AB037793;ABBA01017407;ABBA01017408;AJ586137;AK056231;AK301048;AK307875;AMYH01003826;AP002985;BC131489;BU631962;CH471076;CN287538;DB095282;NM_020798 AAI31490;BAA92610;BAG51653;BAG62660;CAE51937;EAW75056;NP_065849;Q9P2H5 Hs.531249 2145625 D11S1067 OTTHUMP00000233044;OTTHUMP00000233045;OTTHUMP00000233047;deubiquitinating enzyme 35;ubiquitin carboxyl-terminal hydrolase 35;ubiquitin specific protease 35;ubiquitin thioesterase 35;ubiquitin thiolesterase 35;ubiquitin-specific-processing protease 35 protein-coding ENSG00000118369 20061 PROVISIONAL 1347295 USP3L ubiquitin specific protease 3-like 79397 14538 1317280 USP33 ubiquitin specific peptidase 33 This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 1 1 1 p31.1 76401169 76465211 - 77934260 77998125 - 78161672 78225564 - 6480464 11739384;19424180;19363159;19118533;17766394;15489334;14702039;12865408;12838346;12477932;12056827;10470851;8125298;16169070;20724312;17452445;19615732;19684588;19706539;15996926;19699092;19832994;21801292;22118674;21139048;21906983;19322201;21963094;23000965;23486064;23166351;22626734 23032 E9PLK7;E9PP47;E9PQP0;H0YCV3;H0YD08;Q8TEY7 AB029020;ABBA01074394;ABBA01074395;ABBA01074396;ABBA01074397;AC114487;AF383172;AF383173;AI569971;AK022864;AK023664;AK225499;AK308402;AL050140;AMYH01000722;BC016663;BU631866;CH471059;DB232523;NM_015017;NM_201624;NM_201626 AAH16663;AAL78314;AAL78315;ABM82413;ABM85598;BAA83049;BAB14279;CAB43288;EAX06367;EAX06368;EAX06369;EAX06370;EAX06371;NP_055832;NP_963918;NP_963920;Q8TEY7 Hs.480597 1644394;1654622;1740735;1854942;2123182;5020242;5037552 AFM270YC9;D11S2612;D1S3233;D1S3547;D8S2279;G34884;SHGC-75033 KIAA1097;MGC16868;VDU1 OTTHUMP00000011234;OTTHUMP00000011330;OTTHUMP00000011331;VHL-interacting deubiquitinating enzyme 1;deubiquitinating enzyme 33;hVDU1;pVHL-interacting deubiquitinating enzyme 1;ubiquitin carboxyl-terminal hydrolase 33;ubiquitin specific protease 33;ubiquitin thioesterase 33;ubiquitin thiolesterase 33;ubiquitin-specific-processing protease 33 APPROVED protein-coding ENSG00000077254 20059 10297 615146 REVIEWED 1318847 USP34 ubiquitin specific peptidase 34 2 2 2 p15 61259053 61542286 - 61268094 61551353 - 61414590 61697849 - 6480464 15489334;15345747;14715245;14702039;12838346;12477932;12168954;9872452;9628581;17478428;20379614;23000965;21963094;22939629;21383061;21139048;21890473;21906983;22586326;22118674;22412388;22863883;22505724 9736 H7BZ73;H7C150;H7C183;Q8N3T9 AB011142;AB018272;ABBA01075349;ABBA01075350;ABBA01075351;ABBA01075352;ABBA01075353;AC016727;AC016747;AC016894;AC018889;AJ586138;AK001193;AK022637;AK023171;AK023845;AK024341;AK124932;AK125898;AK126741;AL050092;AL050376;AL831918;AMYH01010380;AW293998;BC022783;BC062325;BC107761;BC141839;BX473680;CH471053;NM_014709 AAH22783;AAH62325;AAI07762;BAA25496;BAA34449;BAG54261;CAB43264;CAD38579;CAE51938;EAW99998;NP_055524;Q70CQ2 Hs.644708 1336436;1646031;1660355;1673932;1674767;1679676;1717993;1740171;1760109;1823746;1849487;2114978;2115231;2140435;2172638;2179463;5019755;5122345;7184443 A009P16;D1S2533;D2S2701;D2S337;ECD12965;G32731;RH122613;RH16395;RH45746;RH45777;RH68436;RH68443;RH68825;RH93011;SGC31101;SHGC-107752;SHGC-34452;SHGC-44477 FLJ43910;KIAA0570;KIAA0729;MGC104459 OTTHUMP00000201402;deubiquitinating enzyme 34;ubiquitin carboxyl-terminal hydrolase 34;ubiquitin specific protease 34;ubiquitin thioesterase 34;ubiquitin thiolesterase 34;ubiquitin-specific-processing protease 34 protein-coding ENSG00000115464 20066 11665 615295 VALIDATED 1604943 USP41 ubiquitin specific peptidase 41 22 22 22 q11.21 4205205 4231809 - 19027057 19062599 - 20717911 20732599 - 14715245;12838346;19615732 373856 H7BXK0;Q3LFD5 ABBA01015456;ABBA01015457;AC007731;AC011718;AJ583822;AJ586979;AK303463;AMYH01012533;AMYH01012534;XM_001718645;XM_003960815;XM_036729 BAG64505;CAE47749;CAE52971;Q3LFD5;XP_001718697;XP_003960864;XP_036729 Hs.38260 OTTHUMP00000199828;deubiquitinating enzyme 41;putative ubiquitin carboxyl-terminal hydrolase 41;ubiquitin specific protease 41;ubiquitin specific proteinase 41;ubiquitin thioesterase 41;ubiquitin thiolesterase 41;ubiquitin-specific-processing protease 41 protein-coding ENSG00000161133 20070 MODEL 1315889 USP37 ubiquitin specific peptidase 37 2 2 2 q35 213081582 213200867 - 219023218 219141293 - 219314974 219433084 - 6480464 21596315;17081983;16381901;16344560;15489336;15324660;14715245;14702039;12838346;12477932;11230166;11076863;10997877;11256614;19615732;19851296;20198315;23287719;21139048;21906983;22665064;19240029;22118674;23027877 57695 Q86W68;Q9HCH8 AB046814;ABBA01023866;ABBA01023867;ABBA01023868;AC012510;AC073838;AK095577;AK128583;AL832645;AMYH01011496;BC037389;BC050461;BC112901;BC133007;BC133009;BC144249;BC144252;BX538024;CH471063;DB075170;NM_020935 AAH50461;AAI12902;AAI33008;AAI33010;AAI44250;AAI44253;AAY14887;BAB13420;CAD89955;CAD97970;CAL37807;CAL38294;EAW70621;EAW70622;EAW70623;NP_065986;Q86T82 Hs.166068 1646313;1675146;1740153;1744085;2152097 D2S2139;GDB:386614;RH12276;RH45036;SHGC-32398 KIAA1594;MGC117261 OTTHUMP00000164146;OTTHUMP00000207151;OTTHUMP00000207153;OTTHUMP00000207154;deubiquitinating enzyme 37;tmp_locus_50;ubiquitin carboxyl-terminal hydrolase 37;ubiquitin specific protease 37;ubiquitin thioesterase 37;ubiquitin thiolesterase 37;ubiquitin-specific-processing protease 37 protein-coding ENSG00000135913 20063 07506 VALIDATED 1320548 USP36 ubiquitin specific peptidase 36 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP36 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jan 2009] 17 17 q25.3 74304560 74348564 - 76792965 76836969 - 6480464 19208757;18566677;17081983;16565220;15809067;15635413;15254734;14715245;14702039;12838346;12477932;12429849;10819331;8125298;22865700;21268071;18029348;19615732;19679658;21139048;21890473;21906983;21963094;22118674;22505724;22622177 57602 E9PEW0;K7EIH0;K7EIT7;K7EJI3;K7EKL7;K7EKN3;K7ELR5;K7ELT3;K7EMM6;K7EPT1;K7EQH2;K7EQS0;K7ERC1;K7ERP8;Q8IXW9;Q9P275 AB040886;ABBA01002914;AC022966;AK001671;AK022840;AK022913;AK225155;AK225426;AL833835;AMYH01008674;AMYH01008675;AY169386;BC013890;BC016487;BC027992;BC038983;BC071582;CH471099;NM_025090 AAH16487;AAH27992;AAH38983;AAH71582;AAO34133;BAA91825;BAA95977;BAB14306;BAG51124;CAD38695;EAW89533;EAW89534;EAW89535;EAW89536;NP_079366;Q9P275 Hs.464243 1783514;2162112 RH44869;SHGC-149614 DUB1 deubiquitinating enzyme 1;deubiquitinating enzyme 36;ubiquitin carboxyl-terminal hydrolase 36;ubiquitin specific protease 36;ubiquitin thioesterase 36;ubiquitin thiolesterase 36;ubiquitin-specific-processing protease 36 APPROVED protein-coding ENSG00000055483 20062 07164 612543 VALIDATED 1323709 USP38 ubiquitin specific peptidase 38 4 4 4 141435984 141473049 + 144325548 144362090 + 144106070 144143141 + 6480464 15489334;14715245;14702039;12838346;12477932;11572484;10931946;19615732;21139048;21890473;21906983;22118674;18654987 84640 H0Y9H5;Q3ZCV1;Q8NB14 AB067478;ABBA01070001;AC099549;AC116175;AF211481;AK057992;AK091712;AK093289;AK093754;AK126943;AL833976;AMYH01014581;AW293752;BC017668;BC039115;BC068975;BG575871;BM053004;CH471056;NM_032557 AAH39115;AAH68975;AAK26248;ADR82725;BAB67784;BAB71627;BAC03730;BAG52681;BAG54405;CAD38820;EAX05075;EAX05076;EAX05077;NP_115946;Q8NB14 Hs.480848 1648395;1679888;1700108;2134560;2155380 RH103667;SHGC-36804;SHGC-50450;SHGC-67679;SHGC-8628 FLJ35970;HP43.8KD;KIAA1891 OTTHUMP00000220202;OTTHUMP00000220204;deubiquitinating enzyme 38;ubiquitin carboxyl-terminal hydrolase 38;ubiquitin specific protease 38;ubiquitin thioesterase 38;ubiquitin thiolesterase 38;ubiquitin-specific-processing protease 38 protein-coding 20067 15635 VALIDATED 1317682 USP39 ubiquitin specific peptidase 39 2 2 2 p11.2 85671566 85704705 + 85696794 85729917 + 85829965 85876407 + 6480464;6907045 17353931;10022888;18728397;17081983;15489334;14702039;12838346;12477932;11350945;10810093;8125298;11971955;21145461;15761153;17643375;19615732;20379614;21832049;22939629;16344560;20360068;19471022;21139048;21693764;22174317 10713 B3KMG1;B7Z7L9;B9A018;C9J0X5;C9JIU2;F8WC91;Q9BV89 ABBA01075761;ABBA01075762;ABBA01075763;ABBA01075764;ABBA01075765;AC012454;AC016753;AF130096;AF132955;AF161450;AF353989;AI201523;AK001047;AK001772;AK056334;AK057698;AK129872;AK222852;AK289451;AK295257;AK302236;AK309485;AL117416;AL519827;AMYH01010496;AMYH01010497;BC001384;BC067273;BX462623;CH471053;DA548921;DB124294;DB444135;NM_001256725;NM_001256726;NM_001256727;NM_001256728;NM_006590;NR_046347 AAD27730;AAF29010;AAG35521;AAH01384;AAH67273;AAK49524;BAD96572;BAF82140;BAG50852;BAG50973;BAG51679;BAG58246;BAH13655;EAW99490;EAW99491;EAW99492;EAW99493;EAW99494;NP_001243654;NP_001243655;NP_001243656;NP_001243657;NP_006581;Q53GS9 Hs.654745 2129070;2156143;2218862;5037552 D8S2279;STS-F10170;USP39__5047;WI-20582 65K;CGI-21;FLJ33136;HSPC332;MGC75069;SAD1;SNRNP65 65K;OTTHUMP00000203102;OTTHUMP00000203269;OTTHUMP00000203271;OTTHUMP00000203272;OTTHUMP00000203273;SAD1 homolog;SnRNP assembly defective 1 homolog;U4/U6.U5 tri-snRNP-associated 65 kDa protein;U4/U6.U5 tri-snRNP-associated protein 2;inactive ubiquitin-specific peptidase 39;small nuclear ribonucleoprotein 65kDa (U4/U6.U5);ubiquitin specific protease 39 protein-coding ENSG00000168883 20071 07165 611594 VALIDATED 1317758 USP43 ubiquitin specific peptidase 43 17 17 17 p13.1 9581209 9665448 + 9489675 9573729 + 9548854 9633004 + 1580863;6480464 16344560;14715245;14702039;12838346;12477932;19615732;20379614 124739 Q70EL4 ABBA01054959;ABBA01054960;AC027045;AC118755;AJ583817;AK055188;AK090821;AMYH01008101;AMYH01008102;BC039653;BC136368;BC144041;BC171759;BX648526;DA769847;NM_001267576;NM_153210 AAI36369;AAI44042;AAI71759;BAB70869;CAE47744;NP_001254505;NP_694942;Q70EL4 Hs.709621 1674989;1699624;1703496;1763815;2218640 RH103415;SHGC-147485;SHGC-82609;STS-R52786;USP43__5048 FLJ30626 deubiquitinating enzyme 43;ubiquitin carboxyl-terminal hydrolase 43;ubiquitin specific protease 43;ubiquitin thioesterase 43;ubiquitin thiolesterase 43;ubiquitin-specific-processing protease 43 protein-coding ENSG00000154914 20072 VALIDATED 6484002 USP46-AS1 USP46 antisense RNA 1 4 q12 53522831 53527665 + 15146197 643783 ABBA01003378;AC026448;AMYH01014178;AMYH01014179;BX354350;CN313378;XR_110055;XR_110056;XR_112635;XR_112636;XR_171454 Hs.631514 APPROVED miscrna 43991 MODEL 1320045 USP40 ubiquitin specific peptidase 40 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008] 2 2 2 q37.1 228105436 228195522 - 234048904 234134606 - 234384165 234474236 - 1580863;6480464 18029348;16917932;15815621;15489334;14715245;14702039;12838346;12477932;12045112;11673459;20302855;21646302;22923019;21139048;22412388 55230 C9JK14;H7BZ71;H7C0C4;H7C2T9;H7C307;Q9NVE5 ABBA01001948;ABBA01001949;AC019072;AC019221;AI375976;AJ583821;AK001647;AK124094;AK295112;AK297821;AL833371;AMYH01011578;AMYH01011579;BC013305;BC067300;BC086855;CH471063;NM_018218 AAH67300;AAI56499;BAA91807;BAC85770;BAG58142;BAG60158;CAE47748;EAW71051;EAW71052;NP_060688;Q9NVE5 Hs.96513 1335500;1341521;1675887;1676520;1697270;1714109;1778873;2128192;2144918 D2S2205;D2S2234;G16331;RH102130;RH119661;RH65557;RH79707;RH94290;STS-T63797 FLJ10785;FLJ42100 OTTHUMP00000216386;OTTHUMP00000237439;deubiquitinating enzyme 40;ubiquitin carboxyl-terminal hydrolase 40;ubiquitin specific protease 40;ubiquitin thioesterase 40;ubiquitin thiolesterase 40;ubiquitin-specific-processing protease 40 APPROVED protein-coding ENSG00000085982 20069 07166 610570 VALIDATED 1344173 USP4 ubiquitin specific peptidase 4 (proto-oncogene) The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 p21.3 49289997 49352519 - 49314577 49377536 - 1580863;6480464 21145461;22195557;22262844;22706160;9464533;11461834;9827704;8183569;19367581;16472766;16344560;16316627;15489334;12838346;12477932;11571652;11571651;8125298;7784062;16169070;16339847;19615732;20307617;20141612;21415856;16403452;16196087;22001210;21522127;21900206;20595234;21931648;22029577;22118674;21139048;21890473;21906983;22347420;21331078;21963094;23000965;23128233;22626734;23022198;23105109;23313255;23388719 7375 C9JNU9;H7C189;Q08AK7;Q13107 ABBA01024595;ABBA01024596;ABBA01024597;ABBA01024598;ABBA01024599;ABBA01024600;ABBA01024601;AC121247;AF017305;AF017306;AI887410;AK127055;AK222725;AK223292;AK291795;AMYH01013156;BC068017;BC125130;BC125131;BG717217;BU632996;CH471055;DA267618;DB534804;NG_030370;NM_001251877;NM_003363;NM_199443;U20657 AAB72237;AAC27355;AAC27356;AAI25131;AAI25132;BAD96445;BAD97012;BAF84484;EAW64968;EAW64969;EAW64970;EAW64971;EAW64972;EAW64973;NP_001238806;NP_003354;NP_955475;Q13107 Hs.403828;Hs.77500 1753507;1767817;1851805;2108983;2116986;2119674;2134399;2151369;2168751;2170375;5020885;5037552 D3S3092;D8S2279;L17791;RH18550;RH41918;RH45172;SHGC-107421;SHGC-31529;SHGC-57737;STS-U20657;USP4_8707;WI-14204 MGC149848;MGC149849;UNP;Unph OTTHUMP00000210715;OTTHUMP00000210716;OTTHUMP00000210717;deubiquitinating enzyme 4;ubiquitin carboxyl-terminal esterase 4;ubiquitin carboxyl-terminal hydrolase 4;ubiquitin specific protease 4 (proto-oncogene);ubiquitin thioesterase 4;ubiquitin thiolesterase 4;ubiquitin-specific processing protease 4;ubiquitin-specific-processing protease 4;ubiquitous nuclear protein homolog APPROVED protein-coding ENSG00000114316 12627 04598 603486 REVIEWED 1317864 USP44 ubiquitin specific peptidase 44 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP44 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008] 12 12 12 q22 95582001 95617069 - 94435010 94469394 - 95910879 95945263 - 1580863;6480464 11256614;17443180;16381901;15489336;15489334;14715245;14702039;12838346;22692537;12477932;11230166;11076863;19615732;21853124;20402667;22041458;16344560 84101 F8VRI7;F8VRW0;F8VVD6;Q9H0E7 ABBA01053333;ABBA01053334;ABBA01053335;AC018475;AK027434;AK315697;AL136825;AMYH01004671;AMYH01004672;BC030704;BM023146;CH471054;DA092275;DB096497;DB443014;DB454726;DB456039;DB462518;NM_001042403;NM_001278393;NM_032147 AAH30704;ABM81771;ABM84925;ACE86848;ACE87535;BAG38060;CAB66759;CAL37419;EAW97540;EAW97541;EAW97542;NP_001035862;NP_001265322;NP_115523;Q9H0E7 Hs.646421 1671061;1677008;1690752;1736250;1856912;2124156;2127911;2174182 D12S1183E;D12S1199E;RH39871;RH93395;SGC31600;SHGC-64320;STS-N33173;WI-21736 DKFZp434D0127;FLJ14528 OTTHUMP00000243405;OTTHUMP00000243406;OTTHUMP00000243408;deubiquitinating enzyme 44;ubiquitin carboxyl-terminal hydrolase 44;ubiquitin specific protease 44;ubiquitin thioesterase 44;ubiquitin thiolesterase 44;ubiquitin-specific-processing protease 44 APPROVED protein-coding ENSG00000136014 20064 15636 610993 VALIDATED 1313136 USP42 ubiquitin specific peptidase 42 7 7 7 p22.1 6533917 6590564 - 6111076 6167720 + 6144550 6201195 + 1580863;6480464 18029348;17081983;15489334;15302935;14715245;14702039;12838346;12477932;8889548;19615732;12690205;20618440;22085928;22118674;21139048;21890473;22779921 84132 B4DP25;C9JPC9;E5RJP3;E7EWZ4;F8WD92;Q9H9J4 AA936550;AACC02000121;ABBA01029359;AC004895;AJ601395;AK022759;AK298164;AK301527;AK309375;AMYH01017032;AY618868;BC060846;BC132862;BC136656;BF725643;BM980885;BM995466;BU187025;BU567897;CH236963;CH878731;DB457216;DR001777;NM_032172 AAH60846;AAI32863;AAT67238;BAB14232;BAG60437;BAG63029;CAE53097;EAL23715;EAL23716;EAW55047;EAW55048;NP_115548;Q9H9J4 Hs.31856 1699584;1858265;2154944;2175318;2187450;5022041;5106525 G38319;GDB:1318583;GDB:4585123;RH103393;RH78626;STS-W02789;USP42 FLJ12697 OTTHUMP00000200707;OTTHUMP00000225049;OTTHUMP00000225050;deubiquitinating enzyme 42;ubiquitin carboxyl-terminal hydrolase 42;ubiquitin specific protease 42;ubiquitin thioesterase 42;ubiquitin thiolesterase 42;ubiquitin-specific-processing protease 42 protein-coding ENSG00000106346 20068 VALIDATED 1322181 USP45 ubiquitin specific peptidase 45 6 6 6 q16.2 100524338 100607389 - 99986903 100069973 - 99880182 99963252 - 1580863;6480464 15489334;14715245;14702039;14574404;12838346;12477932;15761153;19615732;22118674;21890473 85015 D6RBV3;D6RC01;D6RE98;E2QRF0;F5H1L5;H0Y8J5;H0Y8Q0;H0Y986;H0YA21;Q5JV78;Q70EL2 ABBA01014480;ABBA01014481;AJ583819;AK123299;AK310643;AL137784;AL513550;AL713747;AL832030;AL832037;AL832040;AMYH01016537;BC005991;BC150648;BC157838;CH471051;NM_001080481 AAH05991;AAI50649;AAI56219;AAI57839;AAI72477;CAD89915;CAD91148;CAE47746;CAI46150;CAI46152;EAW48471;EAW48473;NP_001073950;Q70EL2 Hs.143410 1670699;1682227;1685003;1728395;1760271;1764069;2163530;2174351;2218864 D6S1189E;G63480;RH18455;RH79595;RH92889;SHGC-132588;SHGC-147725;SHGC-36326;USP45__5049 MGC14793 OTTHUMP00000016894;OTTHUMP00000221080;OTTHUMP00000221081;deubiquitinating enzyme 45;ubiquitin carboxyl-terminal hydrolase 45;ubiquitin specific protease 45;ubiquitin thioesterase 45;ubiquitin thiolesterase 45;ubiquitin-specific-processing protease 45 protein-coding ENSG00000123552 20080 PROVISIONAL 1343119 USP50 ubiquitin specific peptidase 50 15 15 15 q21.1 27685337 27731467 - 48580051 48626194 - 50792759 50838902 - 15060002;14715245;12838346;19615732;20379614;20930503 373509 E9PP86;H0YDN5;H0YNB9;Q70EL3 ABBA01039109;ABBA01039110;ABBA01039111;AC012170;AJ583818;AMYH01006637;AMYH01006638;AMYH01006639;BN000339;CH471082;DB448810;DB451236;DB513975;NM_203494 AAI40416;AAI46494;CAE47745;CAE48395;EAW77403;NP_987090;Q70EL3 Hs.677758 2186780 RH45725 OTTHUMP00000236284;inactive ubiquitin carboxyl-terminal hydrolase 50;inactive ubiquitin-specific peptidase 50;ubiquitin specific protease 50 protein-coding ENSG00000170236 20079 15639 VALIDATED 1344409 USP46 ubiquitin specific peptidase 46 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009] 4 4 4 q12 50953085 51021473 - 53155957 53220197 - 53457126 53525502 - 6480464 22391563;19260141;19075014;15489334;15342556;14715245;14702039;12838346;12477932;9110174;8619474;20147737;19615732;20111060;21663972;22043315;21183687;22118674;21139048 64854 D6R9Z4;D6RIX7;H7BZK6;P62068 ABBA01003377;ABBA01003378;AC026448;AF070557;AK021861;AK021912;AK022614;AK024318;AK024345;AK096712;AK296493;AK299883;AK302438;AMYH01014178;BC037574;BP371221;BU620990;CH471057;CN483539;GU455414;NM_001134223;NM_022832 AAH37574;ABM87763;ABW03598;ADV57651;BAB14133;BAB14881;BAH12373;BAH13161;BAH13709;EAX05434;EAX05435;NP_001127695;NP_073743;P62068 Hs.7966 1655438;1691262;1753359;1778627;2139930;2139932;2183015;2187335;5022578;5109663 A002A30;D1S1423;D7S2067E;G11823;G19858;SHGC-107185;SHGC-50294;SHGC-8627;STS-N90897;STS-T67163 FLJ11850;FLJ12552;FLJ14283;FLJ39393 OTTHUMP00000218637;OTTHUMP00000218639;OTTHUMP00000218641;deubiquitinating enzyme 46;ubiquitin carboxyl-terminal hydrolase 46;ubiquitin specific protease 46;ubiquitin thioesterase 46;ubiquitin thiolesterase 46;ubiquitin-specific-processing protease 46 APPROVED protein-coding 20075 07507 612849 VALIDATED 1601875 USP49 ubiquitin specific peptidase 49 6 6 6 p21 43318714 43416439 - 41873361 41971077 - 41765383 41863099 - 6480464 15489334;14715245;14576168;12584197;12477932;19615732;23105109;18029348;23263863 25862 A6PVU2;A6PVU3;H7BZI7;Q5T3E1;Q70CQ1 ABBA01050745;ABBA01050746;ABBA01050747;AJ586139;AL160163;AL365205;AMYH01016298;BC014176;CH471081;NM_018561 AAH14176;ADZ15760;CAE51939;EAX04065;NP_061031;Q70CQ1 Hs.665742 MGC20741 OTTHUMP00000016386;OTTHUMP00000016387;OTTHUMP00000196413;deubiquitinating enzyme 49;ubiquitin carboxyl-terminal hydrolase 49;ubiquitin specific protease 49;ubiquitin thioesterase 49;ubiquitin thiolesterase 49;ubiquitin-specific-processing protease 49 protein-coding ENSG00000164663 20078 10075 PROVISIONAL 1321301 USP47 ubiquitin specific peptidase 47 11 11 11 p15.3 11987161 12106131 + 11819546 11937448 + 11862970 11980872 + 1580863;6480464 16964243;15489334;15302935;14715245;14702039;12838346;12477932;8125298;14576168;14638676;21362556;19615732;19966869;17893145;22863883;20360068;22118674;21139048;21890473;21906983;22586326;22017875;22952844 55031 E9PM46;Q96K76 ABBA01061139;ABBA01061140;AC104383;AC124276;AF059318;AK000734;AK027283;AK027362;AK074076;AK092290;AK093714;AK127264;AK225358;AK309240;AL832991;AMYH01003393;BC000226;BC017795;BC030562;BC047044;BC071559;BG752249;CH471064;NM_017944 AAG43115;AAH00226;AAH17795;AAH47044;AAI48588;BAA91348;BAB55063;BAB84902;BAG52521;BAG54467;CAH56337;EAW68542;EAW68543;EAW68544;NP_060414;Q96K76 Hs.577256 1647886;1665817;1683793;1693752;1699134;1735226;1751831;1751875;1782444;1850173;2121209;2147377;2148009;2151142;2162533;2173333;2179065;2218866 A008Y47;D11S4417;D11S4695;D11S4722;D3S2893E;G30594;RH103143;RH36287;RH78516;RH99064;SHGC-105775;SHGC-105785;SHGC-155067;SHGC-32430;SHGC-58826;STS-AA018552;STS-F03870;USP47__5050 DKFZp686C13257;FLJ20727;TRFP OTTHUMP00000230750;OTTHUMP00000230781;OTTHUMP00000230782;Trf (TATA binding protein-related factor)-proximal homolog;deubiquitinating enzyme 47;ubiquitin carboxyl-terminal hydrolase 47;ubiquitin specific protease 47;ubiquitin thioesterase 47;ubiquitin thiolesterase 47;ubiquitin-specific-processing protease 47 protein-coding ENSG00000170242 20076 614460 VALIDATED 1351270 USP48 ubiquitin specific peptidase 48 This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 1 1 1 p36.12 20327493 20432623 - 21877378 21982275 - 22004791 22109688 - 6480464 17081983;16710414;16214042;15489334;15354349;15342556;14715245;14702039;12838346;12477932;9409543;19615732;18029348;21832049;22939629;21987572;22118674;21139048;21890473;21906983;21963094;22863883 84196 B7ZKS7;E9PJ87;E9PJ93;E9PJH5;E9PRY5;H3BLX5;Q9H5N3 ABBA01059823;ABBA01059824;ABBA01059825;ABBA01059826;ABBA01059827;ABBA01059828;AF502942;AI248244;AK000110;AK002190;AK021830;AK026707;AK074247;AK226150;AK315005;AL359815;AL590103;AL834375;AMYH01000341;BC007326;BC011576;BC013567;BC067261;BC103724;BC104896;BC143343;BC143349;BC143354;BM462540;BP238468;BQ027743;CA436959;CH471134;NM_001032730;NM_032236 AAH07326;AAH13567;AAH67261;AAI03725;AAI04897;AAI43344;AAI43350;AAI43355;AAP30832;BAA90950;BAA92128;BAB15533;CAD39038;EAW94987;EAW94988;EAW94989;EAW94990;EAW94991;EAW94992;NP_001027902;NP_115612;Q86UV5 Hs.467524 1673016;1689861;2130643;2140155;2174223;2218868 D1S3512;G31067;RH94323;SHGC-74344;SHGC-74346;USP48__5051 DKFZp762M1713;MGC132556;MGC14879;RAP1GA1;USP31 OTTHUMP00000009467;OTTHUMP00000009469;OTTHUMP00000235447;deubiquitinating enzyme 48;ubiquitin carboxyl-terminal hydrolase 48;ubiquitin specific protease 31;ubiquitin specific protease 48;ubiquitin thioesterase 48;ubiquitin thiolesterase 48;ubiquitin-specific-processing protease 48 APPROVED protein-coding ENSG00000090686 18533 15637 REVIEWED 7177545 USP6NL-IT1 USP6NL intronic transcript 1 (non-protein coding) 10 11605186 11615495 - 100507213 AL590416;AMYH01002028;XR_109008;XR_171839 Hs.688100 1683495;2126285 RH46310;RH80200 miscrna 44704 MODEL 1603172 USP51 ubiquitin specific peptidase 51 X X X p11.21 59350733 59355315 - 55529687 55532356 - 55511049 55515631 - 6480464 18029348;15772651;15489334;15060002;15028280;14715245;12838346;12477932;10737800;22626734 158880 Q70EK9 ABBA01069523;AI934832;AJ583823;AL590410;AMYH01022443;AMYH01022444;BC035907;BC131541;BN000340;BU101641;NG_021371;NM_201286 AAH35907;AAI72281;CAE47750;CAE48396;NP_958443;Q70EK9 Hs.40061;Hs.607524 1702500;1852882 DXS1302;RH36391 OTTHUMP00000217965;deubiquitinating enzyme 51;ubiquitin carboxyl-terminal hydrolase 51;ubiquitin thioesterase 51;ubiquitin thiolesterase 51;ubiquitin-specific-processing protease 51 protein-coding ENSG00000247746 23086 07167 VALIDATED 1343407 USP54 ubiquitin specific peptidase 54 10 10 10 q22.2 68542895 68621030 - 74927302 75005439 - 75257296 75335433 - 1334457;6480464 14715245 16713569;15164054;15146197;14702039;12477932;16385451;22118674;21139048;21906983;19302785 159195 E7EW90;G8JLB5;H7C1E9;H7C296;Q6ZTM0;R4GN32 ABBA01020319;ABBA01020320;ABBA01020321;ABBA01020322;ABBA01020323;AJ583820;AK094637;AK123711;AK126497;AK127213;AK127267;AK302598;AK303633;AL359074;AL832102;AMYH01002828;BC026037;BC064967;BC110845;BC130633;BX649087;CH471083;CN288586;NM_152586 AAH64967;AAI30634;BAC04393;BAC86566;BAC86886;BAC86907;BAG53943;BAG64641;BAH13757;CAE47747;EAW54502;EAW54503;EAW54504;NP_689799;Q70EL1 Hs.657355 1679541;1731080;1744343;2126695;5024039;5037552 D10S290;D16S325;D8S2279;GDB:451754;RH92705;UniSTS:495255 C10orf29;FLJ37318;bA137L10.3;bA137L10.4 OTTHUMP00000196457;inactive ubiquitin carboxyl-terminal hydrolase 54;inactive ubiquitin-specific peptidase 54;ubiquitin specific protease 54;ubiquitin specific proteinase 54 protein-coding ENSG00000166348 23513 15641 PROVISIONAL 1350484 USP8P1 ubiquitin specific peptidase 8 pseudogene 1 6 6 p21.33 32842032 32845201 + 31243351 31246528 + 19851445 100287272 ABBA01038073;AL662833;AL671883;AL845443;AMYH01016210;BX248310;BX927178;CR388229;CR759828;NG_028817 1701586;2175850 RH104427;RH25289 D84394.7;USP8P APPROVED pseudo 13987 INFERRED 1318206 USP5 ubiquitin specific peptidase 5 (isopeptidase T) Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010] 12 12 p13 6831546 6846057 + 6961285 6975796 + 1580863;6480464 7578059;16189514;18029348;9827704;19098288;16964243;16564012;15489334;15231748;15146197;14718574;12838346;12477932;12435595;12427038;11771738;11337467;9074930;8723724;7851534;7498549;19285159;22878415;17148452;17980597;18482987;19615732;15096053;22863883;23105109;23287719;23314748;16196087;22428841;8841133;21252943;22283393;15852347;18781797;20639865;21987572;22079093;22118674;22216260;19013454;19471022;20622874;21139048;21890473;21906983;21963094;19156909;19373254;22586326;21832049;21976412;22939629;16007098;16712842;22053931;22451720;22505724;22626734 8078 F5H571;P45974 ABBA01017662;AI289395;AK308021;AMYH01004209;AU099996;BC004889;BC005139;CH471116;CN276110;NM_001098536;NM_003481;U35116;U47924;U47927;X91349 AAA78934;AAB51314;AAB51315;AAC50465;AAH04889;AAH05139;ABM83956;ABM87273;CAA62690;EAW88724;EAW88725;EAW88726;EAW88727;NP_001092006;NP_003472;P45974 Hs.631661 1650682;1776040;2141171;2191761;2218870 MARC_7181-7182:996687603:1;RH48309;RH78311;SHGC-32489;USP5__5052 ISOT OTTHUMP00000240481;OTTHUMP00000240482;deubiquitinating enzyme 5;isopeptidase T;ubiquitin carboxyl-terminal hydrolase 5;ubiquitin isopeptidase T;ubiquitin thioesterase 5;ubiquitin thiolesterase 5;ubiquitin-specific protease-5 (ubiquitin isopeptidase T);ubiquitin-specific-processing protease 5 APPROVED protein-coding ENSG00000111667 12628 03265 601447 VALIDATED 1346560 USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene) 17 17 p13 4972411 5019048 + 5031687 5078324 + 1580863;6480464 22188517;9827704;1565468;16555005;19077034;18265974;17701273;16127172;16099424;15735689;15509780;15509545;15026324;14521938;12838346;12612085;12604796;12477932;8471161;8406013;8247125;1349106;16923123;20418905;16713569;19615732;21832049 9098 P35125;Q15635 AB449915;ABBA01054795;ABBA01054796;AC012146;AMYH01008047;AY143550;AY163314;BC029495;BX647719;NM_004505;X63546;X63547;X63596;X71370 AAN38838;AAO21348;BAH16658;CAA45108;CAA45109;CAA45110;CAA45111;CAB94196;NP_004496;P35125 Hs.448851 5091259;5095864;5114870 D17S1542;D17S1980;SHGC-57390 HRP1;TRE17;TRE2;Tre-2;USP6-short OTTHUMP00000125301;TBC1D3 and USP32 fusion;deubiquitinating enzyme 6;hyperpolymorphic gene 1;proto-oncogene TRE-2;tre-2 oncogene;ubiquitin carboxyl-terminal hydrolase 6;ubiquitin specific peptidase 6-;ubiquitin specific protease 6 (Tre-2 oncogene);ubiquitin thioesterase 6;ubiquitin thiolesterase 6;ubiquitin-specific protease USP6;ubiquitin-specific-processing protease 6 protein-coding ENSG00000129204 12629 06827 604334 VALIDATED 1315332 USP53 ubiquitin specific peptidase 53 4 4 4 q26 117495374 117578263 + 120353230 120436121 + 120133782 120216673 + 1334457;6480464 14715245 16189514;16344560;15851553;15489334;14702039;12477932;10718198;20936779;19615732;20332099;22118674;21988832;23159851;23322567 54532 D6RF54;H0Y8Q1;Q70EK8;Q9H9I0 AB037771;ABBA01044703;ABBA01044704;ABBA01044705;ABBA01044706;AC092656;AF085848;AJ583824;AK022799;AK025233;AK025301;AMYH01014484;BC017382;BC062741;BQ019723;BX648339;CD721951;CH471229;CR749490;DA859085;DA886370;NM_019050 AAH17382;AAI48590;BAA92588;BAB14249;CAE47751;CAH18315;EAW73664;NP_061923;Q70EK8 Hs.431081;Hs.595368 1338289;1645153;1671155;1691150;1778532;2141302;2183196;5014063;5022578;7185595 D15S1390;D1S1423;D4S402;RH16578;RH45125;RH99090;SHGC-14338;SHGC-33542;SHGC-67633 DKFZp781E1417 OTTHUMP00000220059;inactive ubiquitin carboxyl-terminal hydrolase 53;inactive ubiquitin-specific peptidase 53;ubiquitin specific protease 53;ubiquitin specific proteinase 53 protein-coding ENSG00000145390 29255 11669 VALIDATED 1603480 USP9YP1 ubiquitin specific peptidase 9, Y-linked pseudogene 1 Y Y q11.221 19162168 19165506 + 20702780 20706118 + 12815422;9847074 387362 AC022486;NG_004636 APPROVED pseudo 31741 VALIDATED 4108559 USP9YP11 ubiquitin specific peptidase 9, Y-linked pseudogene 11 Y 26082810 26086249 + 100421224 AC073893;NG_004755 pseudo 38460 VALIDATED 4109231 USP9YP10 ubiquitin specific peptidase 9, Y-linked pseudogene 10 Y 20987993 20991374 + 9847074 100421222 AC007379;NG_004636 1730039 DYS205 pseudo 38454 VALIDATED 6480979 USP9YP12 ubiquitin specific peptidase 9, Y-linked pseudogene 12 Y 26093112 26093270 - 100874382 ABBA01000444;AC073893;NG_032211 pseudo 38720 INFERRED 5685721 USP9YP13 ubiquitin specific peptidase 9, Y-linked pseudogene 13 Y 26066052 26066270 + 9847074 100861434 ABBA01000444;AC073893;NG_032005 pseudo 38721 INFERRED 4143663 USP9YP19 ubiquitin specific peptidase 9, Y-linked pseudogene 19 Y q11.23 27895007 27896135 - 100500797 AC010682;NG_027712 pseudo 38755 INFERRED 6480974 USP9YP22 ubiquitin specific peptidase 9, Y-linked pseudogene 22 Y 9023208 9023421 + 100874383 ABBA01031651;AC009952;NG_032215 pseudo 38758 INFERRED 1603479 USP9YP2 ubiquitin specific peptidase 9, Y-linked pseudogene 2 Y Y q11.221-q11.222 19397449 19400787 - 20938061 20941399 - 12815422;9847074 387363 AC007379;NG_004636 APPROVED pseudo 31742 VALIDATED 4143662 USP9YP23 ubiquitin specific peptidase 9, Y-linked pseudogene 23 Y q11.222 19894111 19896696 + 9847074 100500798 AC007742;NG_027715 pseudo 38759 INFERRED 3051402 USP9YP3 ubiquitin specific peptidase 9, Y-linked pseudogene 3 Y Y q11.223 22233100 22245385 + 23823712 23835997 + 12815422 387364 AC021107;NG_004832 pseudo 37739 VALIDATED 6480975 USP9YP30 ubiquitin specific peptidase 9, Y-linked pseudogene 30 Y 27869137 27869295 + 100874384 AC010682;NG_032216 pseudo 38766 INFERRED 5133391 USP9YP34 ubiquitin specific peptidase 9, Y-linked pseudogene 34 Y Y q11.221 18605523 18614661 + 20096129 20105267 + 12815422 387361 AC009976;NG_004636 5116088;5116090 sY1938;sY1939 pseudo 38778 VALIDATED 3051404 USP9YP4 ubiquitin specific peptidase 9, Y-linked pseudogene 4 Y Y p11.2 9087148 9102322 - 9027248 9042222 - 12815422 387359 ABBA01031649;ABBA01031650;ABBA01031651;AC009952;NG_003168 1667237;2187923;2187929;2187931 DYF77S1;G66103;G66107;G66108 pseudo 37740 INFERRED 2946873 USP9YP5 ubiquitin specific peptidase 9, Y-linked pseudogene 5 Y 20652800 20656181 - 100421217 AC068541;NG_004636 1730039 DYS205 pseudo 38418 VALIDATED 3051023 USP9YP6 ubiquitin specific peptidase 9, Y-linked pseudogene 6 Y q11.221 20026791 20033510 - 12815422;9847074 100462820 AC009976;NG_004636 CDY24P pseudo 38078 VALIDATED 2946872 USP9YP8 ubiquitin specific peptidase 9, Y-linked pseudogene 8 Y Y 224159 226136 - 23839132 23841109 - 100421219 ABBA01049560;ABBA01049561;AC021107;NG_021921 pseudo 38424 INFERRED 4109290 USP9YP7 ubiquitin specific peptidase 9, Y-linked pseudogene 7 Y 20022471 20022667 + 9847074 100462821 AC009976;NG_004636 pseudo 38079 VALIDATED 2946871 USP9YP9 ubiquitin specific peptidase 9, Y-linked pseudogene 9 Y Y 10156239 10159681 + 27876157 27879599 - 100421220 AC010682;NG_021931 pseudo 38435 INFERRED 1315800 USP7 ubiquitin specific peptidase 7 (herpes virus-associated) 16 16 p13.3 8893452 8964842 - 8985951 9057341 - 1580863;2316155;6480464;6484113 19450511 9827704;12093161;11923872;19124652;18952891;18833293;18716620;18590780;18566590;18418047;18410486;17927229;17651432;17442268;16845383;16713569;16474402;16402859;16160161;15942648;15916963;15808506;15494000;15302935;15247261;15058298;15053880;14676191;14506283;12838346;12507430;11279055;9925944;9130697;9034339;17353931;22466611;22084066;22325352;22514345;22586326;21268065;20601937;20562859;15749019;16111684;16943424;16964248;17380154;17525743;17936559;19470478;19615732;19834552;20153724;20379614;20855462;20713061;20800574;20719947;21145461;21319273;21949651;22863774;22875967;20885946;21170034;21258371;20930542;22901115;22939629;21305000;21490432;21745816;22863883;23022380;23105109;23208507;23267096;23287719;23297342;23348568;23388826;17268548;21468692;21468693;21480003;20874444;21845734;21045206;21081666;21981925;19471022;20622874;21139048;21549307;21890473;21906983;21963094;21252943;22438555;20816748;22118674;12783858;19193609;22195557;22634009;9847347;22361354;22411829;21988832;22902626;23000965;23089923;23452853;22032989;22072716;23183427;23455922;23524849;23536002;23603909;23667531;23752268;18729074;22072767;22505724;22626734;22750444;22797925;22993145 7874 B7Z815;F5H2X1;F5H8E5;H3BMF6;H3BND8;H3BQD1;H3BRA2;H3BRI4;H3BTM1;H3BUV0;H3BVA7;I3L2D8;Q6U8A4;Q93009 ABBA01019732;AC022167;AK302481;AK302771;AK302872;AK302912;AK316441;AMYH01007140;AY376241;CH471112;HC309806;NM_003470;Z72499 AAI66690;AAQ82908;BAH13721;BAH13801;BAH13828;BAH13841;BAH14812;CAA96580;CBJ21210;EAW85194;EAW85195;NP_003461;Q93009 Hs.386939 1644912;1679595;1684391;1687848;1690552;1705596;1739981;1797028;2164441;5114114 D16S3010;RH64928;RH65018;RH65057;RH65086;RH65300;RH80190;SHGC-61120;SHGC-83906;USP7_1808 HAUSP;TEF1 Herpes virus-associated ubiquitin-specific protease;deubiquitinating enzyme 7;herpesvirus-associated ubiquitin-specific protease;ubiquitin carboxyl-terminal hydrolase 7;ubiquitin specific protease 7 (herpes virus-associated);ubiquitin thioesterase 7;ubiquitin-specific-processing protease 7 protein-coding ENSG00000187555 12630 03950 602519 VALIDATED 1346918 UTF1 undifferentiated embryonic cell transcription factor 1 10 10 q26 134893768 134895052 + 135043778 135045062 + 1580863;6480464 9748258;18281244;15164054;11467843;9524124;16582099;18983962;20218897;20855642;19393592;21446939;22880087;23101626 8433 Q5T230 AB011076;ABBA01006207;AL445199;AMYH01003229;AY606112;CH471211;NM_003577 AAI66624;AAT38949;BAA33463;EAW61322;NP_003568;Q5T230 Hs.458406 5493521 UniSTS:487024 OTTHUMP00000020786;undifferentiated embryonic cell transcription factor 1 protein-coding ENSG00000171794 12634 11964 604130 PROVISIONAL 1342718 USP9Y ubiquitin specific peptidase 9, Y-linked This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009] Y Y q11.2 13322554 13482162 + 14813160 14972768 + 1580863;6480464;7240710 8922996;9384609;19246359;18511697;18357961;18205040;16893908;15696490;14983005;14702039;12925892;12895410;11869379;10767340;10581029;9847074;9827704;9381176;1723470;17148452;20301513;23287719;19343720;21890473;23000965;22118674;21906983;22318606;23650841;19380743 8287 H7C2M9;O00507 ABBA01065598;ABBA01065599;ABBA01065600;ABBA01065601;ABBA01065602;ABBA01065603;ABBA01065604;ABBA01065605;ABBA01065606;ABBA01065607;ABBA01065608;ABBA01065609;ABBA01065610;ABBA01065611;ABBA01065612;ABBA01065613;ABBA01065614;ABBA01065615;ABBA01065616;ABBA01065617;ABBA01065618;ABBA01065619;ABBA01065620;ABBA01065621;ABBA01065622;AC002531;AF000986;AK057605;BI754571;CH471155;CK823170;DQ151535;NG_008311;NM_004654;Y13618;Y13619 AAC51833;AAI56545;ABA28747;CAA73940;CAA73941;EAW91607;EAW91608;NP_004645;O00507 Hs.598540 1725841;1725843;1725845;1746061;1746993;1746995;1746997;1746999;1747001;1747003;1747005;1747007;1747009;1747011;1747013;1747015;1747017;1747019;2113598;2113600;2146515;2159799;2188309;2188327;2188825;2188839;2190417;2190419;2190421;2219748;5021648;5021650;5021652;5021654;5021656;5021658;5022899;5022901;5022903;5022905;5022907;5115714;5115716;5115718;5115720;5115722;5115724;5115726;5115728;5115730;5115732;5115734;5115736;5115738;5115740;5115742;5115744;5115746;5115748;5115750;5115752;5115754;5115756;5115758;5115760;5115762;5115764;5115766;5115768;5115770;5115772;5115774;5115776;5116884 G34983;G38348;G49211;G54725;G54726;G54727;G64979;G64980;G64981;G64982;G64983;G64984;G64985;G64987;G64988;G64989;G64990;G64991;G64992;G64993;G65839;G65849;G66187;G66199;M235;M237;M238_M239;USP9Y-10;USP9Y-11;USP9Y-12;USP9Y-13;USP9Y-14;USP9Y-15;USP9Y-16;USP9Y-17;USP9Y-18;USP9Y-19;USP9Y-2;USP9Y-20;USP9Y-21;USP9Y-22;USP9Y-23;USP9Y-24;USP9Y-25;USP9Y-27;USP9Y-28;USP9Y-29;USP9Y-30;USP9Y-31;USP9Y-32;USP9Y-33;USP9Y-34;USP9Y-35;USP9Y-36;USP9Y-37;USP9Y-38;USP9Y-39;USP9Y-4;USP9Y-40;USP9Y-41;USP9Y-42;USP9Y-43;USP9Y-44;USP9Y-45;USP9Y-46;USP9Y-5;USP9Y-6;USP9Y-7;USP9Y-8;USP9Y-9;USP9Y__5056;sY1316;sY1317;sY644 DFFRY;FLJ33043;SPGFY2 OTTHUMP00000034631;deubiquitinating enzyme FAF-Y;fat facets protein related, Y-linked;fat facets protein-related, Y-linked;fat facets-like homolog;probable ubiquitin carboxyl-terminal hydrolase FAF-Y;ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila);ubiquitin specific protease 9, y-linked (fat facets-like, drosophila);ubiquitin thioesterase FAF-Y;ubiquitin thiolesterase FAF-Y;ubiquitin-specific processing protease FAF-Y;ubiquitin-specific protease 9, Y chromosome;ubiquitin-specific-processing protease FAF-Y APPROVED protein-coding ENSG00000114374 12633 02449 400005;415000 REVIEWED 1323420 USP6NL USP6 N-terminal like 10 10 10 p13 11431129 11582310 - 11542515 11614280 - 11502509 11653679 - 1580863;6480464;6484113 19077034;17371873;17081983;16381901;15489336;15489334;15152255;15144186;12477932;11099046;11076863;8889548;8700527;8700515;7584028;7584026;12399475;14521938;20379614;21832049;21139048;23000965;23251661;17684057 9712 Q92738;Q96FW8 AB449916;ABBA01034688;ABBA01034689;ABBA01034690;ABBA01034691;ABBA01034692;AK292944;AL512631;AL590416;AMYH01002027;AMYH01002028;BC010351;BC042943;CF121539;CH471072;D13644;DB457665;NM_001080491;NM_014688 AAH10351;AAH42943;BAA02807;BAF85633;BAH16659;CAL37548;CAL37976;CAL38244;CAL38532;EAW86344;NP_001073960;NP_055503;Q92738 Hs.498661 1648489;1683495;1718235;2118482;2126285;2176627;2177258;2182368;2218872 D10S2183;RH122887;RH25258;RH46310;RH48374;RH80200;SHGC-30535;STS-D13644;USP6NL__5055 KIAA0019;RNTRE;TRE2NL;USP6NL-IT1 OTTHUMP00000019080;RN-tre;USP6 N-terminal-like protein;USP6NL intronic transcript 1 (non-protein coding);related to the N terminus of tre;related to the N-terminus of tre protein-coding ENSG00000148429 16858 605405 VALIDATED 1321964 USPL1 ubiquitin specific peptidase like 1 13 13 13 q12-q14 12260821 12302674 + 30089920 30131686 + 31191830 31233686 + 6480464 14702039;12477932;19615732;22678362;23338788;22878415;21988832 10208 A8K1B1;Q5W0Q7 ABBA01035692;ABBA01035693;AK057514;AK289826;AL138681;AL832776;AMYH01005010;BC012594;BC036027;BC038103;BI752017;CH471075;CR627370;NM_005800;X59131 AAH36027;AAH38103;BAF82515;BAG51926;CAA41848;CAH10469;EAX08466;NP_005791;Q5W0Q7 Hs.533831 1645407;1664431;1669256;1756101;5016478;5037552 D8S2279;GDB:434012;SGC30739;SHGC-11972;SHGC-142889;STS-X59131 C13orf22;D13S106E;DKFZp781K2286;FLJ32952;RP11-121O19.1;bA121O19.1 OTTHUMP00000018203;SUMO-specific isopeptidase USPL1;highly charged protein;ubiquitin-specific peptidase-like protein 1 protein-coding ENSG00000132952 20294 09833 VALIDATED 1606030 USP9X ubiquitin specific peptidase 9, X-linked This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] X X p11.4 40829832 40980776 + 40944888 41095832 + 6480464 19135894;9827704;16322459;8922996;18410486;18254724;17353931;17081983;17038327;16964243;16344560;16306228;15772651;15592455;15203218;14743216;14742711;12617843;12477932;10737800;9110174;8619474;10620020;9722616;17267499;21145461;19913121;20628086;15607950;19508998;20023629;21173155;21248063;22863883;22990118;18303054;20811636;23097624;23171055;23184937;23287719;22939629;20005844;21907705;14676191;19341794;20305814;20339350;21081666;21566062;22065755;18781797;21987572;22118674;21139048;21693764;21890473;21906983;22699621;22586326;22371489;22544753;17110338;22053931;23000965;22895071;23455922;23524849;23667531;23752268;23112048;19380743;22952844 8239 E9PFG1;H7C5R3;Q6P468;Q86X58;Q93008 AA261797;AB209666;ABBA01046711;ABBA01046712;ABBA01046713;ABBA01046714;ABBA01046715;ABBA01046716;ABBA01046717;ABBA01046718;ABBA01046719;ABBA01046720;ABBA01046721;ABBA01046722;ABBA01046723;ABBA01046724;ABBA01046725;ABBA01046726;ABBA01046727;ABBA01046728;ABBA01046729;ABBA01046730;ABBA01046731;AC006121;AF070645;AJ012078;AK294828;AL109797;AL391259;AMYH01022229;AW183065;BC014792;BC046205;BC054861;BC063645;BE925861;BX956755;CD619095;CH471141;DA854185;NG_012547;NM_001039590;NM_001039591;X98296 AAC25395;AAH46205;AAH63645;AAI72429;BAD92903;BAG57940;CAA66942;EAW59406;EAW59407;EAW59408;EAW59409;EAW59410;EAW59411;EAW59412;NP_001034679;NP_001034680;Q93008 Hs.77578 1672052;1700734;1702670;1740649;1745993;1852144;2124698;2126606;2129072;2136249;2141914;2157986;2182708;2183951;2190855;2218134;2220296;5092366;5118444 D11S3316;D20S998;DFFR;DXS1454;DXS7601;DXS9725;G34982;G49472;PLP1;RH103992;RH125670;RH47975;RH48141;RH70211;SGC30689;SHGC-34697;STS-N26828;USP9X_3261;WI-11070 DFFRX;FAF;FAM Drosophila fat facets related, X-linked;OTTHUMP00000023142;OTTHUMP00000216101;deubiquitinating enzyme FAF-X;fat facets in mammals;fat facets protein related, X-linked;fat facets protein-related, X-linked;hFAM;probable ubiquitin carboxyl-terminal hydrolase FAF-X;ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila);ubiquitin thioesterase FAF-X;ubiquitin thiolesterase FAF-X;ubiquitin-specific processing protease FAF-X;ubiquitin-specific protease 9, X chromosome;ubiquitin-specific-processing protease FAF-X APPROVED protein-coding ENSG00000124486 12632 02091 300072 REVIEWED 1312363 UST uronyl-2-sulfotransferase Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008] 6 6 6 q25.1 149804170 150133178 + 149110157 149439818 + 149068271 149398126 + 1580863;6480464;6907045 21145461;10187838;19240061;17227754;16192264;15489334;14574404;12477932;20360315;20379614;21890473;19322201 10090 Q9Y2C2 AB020316;ABBA01025688;ABBA01025689;ABBA01025690;ABBA01025691;AI570697;AJ420554;AK292922;AK315320;AL357992;AL359252;AL589705;AL590485;AL807246;AMYH01016733;BC093668;BC093694;CA842761;CH471051;DB496757;NM_005715 AAH93668;AAH93694;BAA77510;BAF85611;BAG37723;EAW47812;NP_005706;Q9Y2C2 Hs.657370 1341174;1660491;1669731;1674634;1678181;1693722;1757879;1758535;1779208;1785854;1786172;2172234;2172274;2219750 D6S1148E;D6S1329;D6S1564;RH46094;RH92645;SGC44468;SHGC-111955;SHGC-146752;SHGC-148649;SHGC-152794;SHGC-44468;SHGC-58640;SHGC-83979;UST__5057 2OST OTTHUMP00000017745;dermatan/chondroitin sulfate 2-sulfotransferase;uronyl 2-sulfotransferase APPROVED protein-coding ENSG00000111962 17223 10298 610752 VALIDATED 1312730 USP8 ubiquitin specific peptidase 8 15 15 q21.2 48503871 48579265 + 50716579 50793277 + 1580863;6480464;6907045 13129930;18388320;9827704;17353931;17711858;9628861;18029348;17121848;17035239;16771824;16520378;16341674;15489334;15342353;15314180;14702039;12477932;11500497;10982817;9582025;8889548;7584044;18329369;14661020;15778465;12838346;20876529;12176364;12773374;15324660;17210635;17720156;19615732;19684015;16120644;22863883;21448666;21828287;22253573;22939629;15161933;20736164;22118674;21139048;19302785;19427866;22195557;22779921;17979178;23297398;22626734;22841719;23153581;23287719;23333852 9101 B3KRK3;B4DKA8;H0YKV1;H0YLH2;H0YLS3;H0YM17;H0YM47;H0YNL5;P40818;Q05DF5 AA399951;AA773713;ABBA01039111;ABBA01039112;ABBA01039113;AC012170;AK091775;AK292400;AK296480;AK300590;AMYH01006636;AMYH01006637;BC015545;BC026954;BC038801;BC051345;BC062694;BC092443;BC110590;BM751645;BX537420;CA312140;CH471082;D29956;NM_001128610;NM_001128611;NM_005154 AAH15545;AAH26954;AAH38801;AAH51345;AAI10591;BAA06225;BAF85089;BAG52415;BAG59120;BAG62288;CAD97662;EAW77399;EAW77400;EAW77401;EAW77402;NP_001122082;NP_001122083;NP_005145;P40818 Hs.443731 1653750;1669848;1701586;1856368;2175850;2186780 D15S1200;D15S712E;G07414;RH104427;RH25289;RH45725 FLJ34456;HumORF8;KIAA0055;MGC129718;UBPY OTTHUMP00000162416;deubiquitinating enzyme 8;hUBPy;ubiquitin carboxyl-terminal hydrolase 8;ubiquitin isopeptidase Y;ubiquitin specific protease 8;ubiquitin thioesterase 8;ubiquitin thiolesterase 8;ubiquitin-specific-processing protease 8 protein-coding ENSG00000138592 12631 04405 603158 VALIDATED 1607048 UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009] 12 12 q23 100198036 100304528 + 101673905 101780397 + 6480464 16053918;16458307;15656982;15635413;15302935;14503924;12837249;12429849;11790298;7566098;9673349;15590835;17498821;16565220;12150911;17652137;17903303;21151873;22939629;19596686;22108332;19471022;21139048;22586326 27340 O75691 AA306482;ABBA01053244;ABBA01053245;AC063948;AC063951;AF072718;AJ006778;AK000333;AK297739;AK307934;AMYH01004702;BX957203;CH471054;NM_014503 AAG35208;BAG60089;CAA07243;EAW97652;EAW97653;EAW97654;EAW97655;EAW97656;NP_055318;O75691 Hs.295732 1340552;1736208;1746279;1759349;1793444;2143002;2170569;5019737 A009L38;D12S1153E;D12S1727;G32661;G64595;PMC222913P1;RH65919;SHGC-150879 DRIM NNP73;OTTHUMP00000243365;down regulated in metastasis;down-regulated in metastasis protein;novel nucleolar protein 73;small subunit processome component 20 homolog APPROVED protein-coding ENSG00000120800 17897 09928 612822 VALIDATED 731994 UTP11L UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 1 1 1 p34.3 36757020 36769134 + 38250971 38263084 + 38478384 38490497 + 6480464 12559088;17081983;16710414;15635413;15489334;14702039;12477932;11860508;11790298;10810093;7829101;21139048;21693764;21890473;21906983 51118 B4DJC6;Q9Y3A2 ABBA01023248;AF067802;AF151852;AK023587;AK291900;AK296018;AK308377;AL603790;AMYH01000510;BC005182;BI493106;BU620078;BU940926;CH471059;CX163866;NM_016037 AAD34089;AAF75562;AAH05182;ADZ15854;BAF84589;BAG58788;EAX07299;EAX07300;NP_057121;Q9Y3A2 Hs.472038;Hs.637686 1853838;2114729;2181741;5014051 D1S3288;D8S2278;RH17970;SHGC-74616 CGI-94;CGI94 OTTHUMP00000004725;U3 snoRNA-associated protein 11;UTP11-like protein;comparative gene identification transcript 94;probable U3 small nucleolar RNA-associated protein 11 protein-coding ENSG00000183520 24329 16711 609440 VALIDATED 1347961 UTP14A UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] X X X q26.1 129426601 129450242 + 128867840 128891409 + 129040097 129063738 + 1580863;6480464;6907045 15383276;17081983;16565220;16189514;16169070;15772651;15489334;15289605;12477932;12429849;9610721;14702039;15342556;16354793;22939629;21078665;21900206;22178446;19471022;21139048;21693764;22586326;21252943 10813 F8WD00;Q9BVJ6 ABBA01047855;ABBA01047856;ABBA01047857;ABBA01047858;ABBA01047859;AK094408;AK291918;AK298578;AK304563;AL034405;AMYH01022964;BC001149;BC009649;BC014987;BP353997;BQ017502;BU942896;CH471107;NM_001166221;NM_006649 AAH01149;AAH09649;AAH14987;ABM83475;ABM86686;BAF84607;BAG60770;BAG65355;EAX11820;NP_001159693;NP_006640;Q9BVJ6 Hs.458598 1691590;1847528;2132591 A004M32;AL032566;STS-H16242 FLJ37089;KIAA0266;NY-CO-16;NYCO16;SDCCAG16;dJ537K23.3 OTTHUMP00000023994;U3 small nucleolar RNA-associated protein 14 homolog A;antigen NY-CO-16;serologically defined colon cancer antigen 16 APPROVED protein-coding ENSG00000156697 10665 06712 300508 REVIEWED 1344153 UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 13 13 13 q14.2 33647465 33656374 + 51496828 51505702 + 52598827 52607736 + 6480464;6907045 16354793;15489334;15289605;15057823;12477932;9039502;8889549;22285623 9724 Q08E77;Q5TAP6 ABBA01051054;AI076921;AL139082;AMYH01005116;BC089407;BC122536;CH471075;D87455;N71815;NM_021645 AAH89407;AAI22537;ACE86609;ACE87290;BAA13396;EAX08899;EAX08900;EAX08901;EAX08902;EAX08903;NP_067677;Q5TAP6 Hs.512963 1665354;1665356;1682716;1700368;1857992;2114518;2123543;2130738;2142413 A005R37;G20449;G30316;RH103804;RH94249;SHGC-3226;STS-N34663;WI-13764;WI-20648 2700066J21Rik;KIAA0266;MGC104971;UTP14B OTTHUMP00000018445;U3 small nucleolar RNA-associated protein 14 homolog C protein-coding ENSG00000253797 20321 12346 608969 VALIDATED 1601941 UTP23 UTP23, small subunit (SSU) processome component, homolog (yeast) 8 8 8 q24.11 113967456 113975628 + 117847923 117853380 + 117778742 117786923 + 6480464 16769905;15342556;14702039;12477932;21832049;21906983 84294 E5RG01;E5RGP0;E5RH13;E5RIC4;E5RIM0;G3XAM4;Q9BRU9 ABBA01037792;AC087350;AK055279;AK315770;AMYH01018982;AP002905;BC005955;BC022441;BP231814;CH471060;NM_032334 AAH05955;AAH22441;ADZ15872;BAB70896;BAG38122;EAW91960;EAW91961;EAW91962;NP_115710;Q9BRU9 Hs.86970 5016478;5020881;5022200;5022578;5022588;5022651;5037552 D11S2921;D1S1423;D5S1597E;D8S2279;GDB:434012;L17709;L18426 C8orf53;MGC14595 OTTHUMP00000228031;rRNA-processing protein UTP23 homolog protein-coding ENSG00000147679 28224 17499 VALIDATED 1349005 UTP18 UTP18 small subunit (SSU) processome component homolog (yeast) 17 17 17 q21.33 45799091 45836491 + 46692896 46730293 + 49337897 49375294 + 6480464;6907045 15199122;15590835;17081983;16964243;15489334;15302935;12477932;12429849;8619474;10810093;9110174;19615732;21628590;20639865;21693764;22586326;22505724 51096 F6VJE8;J3KSR7;J3QLD6;J3QR85;J3QRG0;Q9Y5J1 ABBA01041261;AC006141;AF151806;AK026355;AK314399;AMYH01008482;AY007138;BC001535;BC025276;BG723023;BM548967;CH471109;NM_016001 AAD34043;AAG01999;AAH25276;BAG37023;EAW94559;NP_057085;Q9Y5J1 Hs.709327 1767920;2122319;2126217;2145416;2169481;2186543 A002Q33;D17S1279;D17S2000;RH66348;STS-AA024455;STS-N27279 CGI-48;WDR50 OTTHUMP00000221917;U3 small nucleolar RNA-associated protein 18 homolog;UTP18, small subunit (SSU) processome component, homolog;WD repeat-containing protein 50 APPROVED protein-coding ENSG00000011260 24274 612816 VALIDATED 1604578 UTP15 UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 5 5 5 q13.2 68756885 68773081 + 72897354 72913550 + 72861598 72877794 + 6480464;6907045 11256614;16381901;15489336;15489334;14702039;12477932;12429849;11230166;11076863;16136320;22939629;21139048;21890473;21906983;22586326;22505724;22797925 84135 B4DU75;B4DXK8;D6RF65;H0Y8P4;Q8TED0 ABBA01061920;AC010279;AK022849;AK074217;AK300525;AK302021;AL831972;AMYH01015406;BC013064;BX094101;CH471084;CR457295;NM_032175 AAH13064;BAB14271;BAB85020;BAG62237;BAG63420;CAG33576;CAL37615;CAL38422;EAW95731;NP_115551;Q8TED0 Hs.406703 2128373;5037552 D8S2279;STS-T10509 FLJ12787;NET21 OTTHUMP00000222040;OTTHUMP00000222041;OTTHUMP00000222042;Src-associated protein SAW;U3 small nucleolar RNA-associated protein 15 homolog protein-coding ENSG00000164338 25758 07796 VALIDATED 737599 UTS2 urotensin 2 This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 p36 7830262 7836159 - 7907672 7913551 - 1580806;1580807;1580808;1580809;1580863;2306814;2306785;2306799;2306786;2306795;2306802;2306803;2306806;2306807;2306832;2306846;2306848;2306796;2306804;2306805;2306836;6480464 15866083;15306183;15201550;12791592;17184580;19323985;18067077;18796544;18338983;17327028;16508659;15476950;15476949;17045018;15549273;15042392;18280445;16364499;15492948;17900760 22098077;19398874;19056482;19001524;18440535;18314227;18284603;18086953;17822806;17686550;17143557;16866021;16807543;16783414;16710414;16597476;16343502;16172428;15891007;15618545;15379892;10499587;15340161;15007012;12975309;12905622;12830381;12509909;12477932;12468107;12381671;12297490;12203418;12088848;11725162;11344221;10581185;9861051;9279525;22319601;20653105;18505448;19326266;19362580;19578796;19797715;20339975;16754659;20017703;20428787;18577758;20965108;20695946;22587369;21297633;21694541;21274584;21605557;21559414;21623998;21628590;21556780;22045841;23158820 10911 A0AVP6;O95399;Q5H8X8 ABBA01035491;AF104118;AF140630;AMYH01000225;AY358375;BC025776;BC126443;BC171734;CH471130;GN344139;GN344141;NM_006786;NM_021995;Z98884 AAD13070;AAD55577;AAI26444;AAQ88741;CAY56005;CAY56006;EAW71587;EAW71588;EAW71589;NP_006777;NP_068835;O95399 Hs.715862 PRO1068;U-II;UCN2;UII OTTHUMP00000001356;OTTHUMP00000001357;OTTHUMP00000001358;prepro U-II;urotensin II;urotensin-2 APPROVED protein-coding ENSG00000049247 12636 04976 604097 REVIEWED 731341 UTRN utrophin This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] 6 6 q24 144654566 145215863 + 144612873 145174170 + 737706;1580863;2300329;6480464 9288751;17031801 16777071;8977119;1426262;18945675;17507653;17081983;16710609;16598790;16595608;16344560;16295426;16198105;16049973;15231748;15146197;14702039;12633873;12619170;12499352;12370193;12054535;12034776;12006649;11997063;11875058;11861579;11796130;11430802;11377836;11178104;10995443;10769203;10767429;10737800;10647184;10545507;10369873;9887274;9701558;8889548;8576247;8281135;7890770;7844150;7589238;2541343;2203673;2014247;1461283;1400579;22275054;20625423;16936636;19615732;19786618;19945424;20347265;20379614;18029348;20434517;20562859;16803572;22939629;21326213;21482524;21672318;20811636;17342744;21139048;21890473;21906983;23000965;23163995;23363418;23402259;17043677;19850743;18468998;22586326;22609462;23345212 7402 H0Y337;P46939;Q5JT44;Q5JT45;Q5JT49;Q5SYY1;Q5SYY2;Q5T097;Q5T098;Q6LBS5 ABBA01025734;ABBA01025735;ABBA01025736;ABBA01025737;ABBA01025738;ABBA01025739;ABBA01025740;AK023675;AK292506;AL024474;AL357149;AL513184;AL513475;AL590488;AL590704;AMYH01016723;AMYH01016724;BE817979;BM729107;BX100445;BX472896;CA449403;CH471051;CN360586;DB079517;NM_007124;X15488;X69086 ACX32321;BAF85195;CAA33515;CAA48829;EAW47845;EAW47846;EAW47847;EAW47848;NP_009055;P46939 Hs.133135 1650638;1652944;1661512;1676067;1693712;1722123;1739549;1773178;1787852;1847791;1850706;1852714;2119776;2123344;2147639;5021315 D6S1527;EST1F7;G60105;RH36365;RH46776;RH47553;RH79018;RH99228;SHGC-132615;SHGC-36555;SHGC-37610;SHGC-58632;STS-H71515;STS-H99088;STS-R93696;WI-18022 DMDL;DRP;DRP1;FLJ23678 DRP-1;OTTHUMP00000017350;dystrophin-related protein 1;utrophin APPROVED protein-coding ENSG00000152818 12635 00547 128240 REVIEWED 1342744 UTS2R urotensin 2 receptor 17 17 q25.3 77925490 77926659 + 80332201 80333370 + 633970;1580807;1580812;1580863;2306785;2306796;2306786;2306833;2306846;2306805;2306836;2306839;2306847;6480464 8666380;15306183;14621188;19323985;18280445;18796544;16919371;15549273;15492948;17900760;16267137 10499587;19001524;18423797;18409194;17905478;17686550;17617581;17595527;17537987;16597476;15752584;15476949;14753294;14550283;11015293;10828617;10581185;9861051;16754659;22563490;20428787;20479331;21080343;12477932;19111831;20870804;19788716;22245063 2837 Q9UKP6 ABBA01019676;AC132938;AF140631;AMYH01008732;BC136490;CH471099;NM_018949 AAD55578;AAI36491;EAW89768;NP_061822;Q9UKP6 Hs.192720 5493723;5493973 UniSTS:480604;UniSTS:493961 GPR14;UR-2-R;UTR;UTR2 G protein-coupled receptor 14;G-protein coupled receptor 14;UR-II-R;urotensin II receptor;urotensin-2 receptor protein-coding ENSG00000181408 4468 02938 600896 PROVISIONAL 1603977 UTP3 UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 4 4 4 q13.3 68911196 68913268 + 71773098 71775132 + 71554196 71556268 + 6480464 11256614;17081983;17015728;16565220;16381901;16344560;16169070;15635413;15489336;15489334;14702039;12477932;11790298;11230166;11076863;21182205;21544627;21139048;21890473;21906983 57050 Q9NQZ2 ABBA01022935;AC009570;AF271212;AK026909;AL136590;AMYH01014280;BC004546;CH471057;CR533544;CS300532;DB021011;NM_020368 AAF91408;AAH04546;ABM83925;ABW03551;BAB15588;CAB66525;CAG38575;CAK32196;CAL37740;CAL37950;CAL38107;EAX05627;NP_065101;Q9NQZ2 Hs.322901 1647818;2150652 SHGC-56824;SHGC-67668 CRL1;CRLZ1;FLJ23256;SAS10 OTTHUMP00000160360;UTP3 homolog;charged amino acid rich leucine zipper 1 homolog;charged amino acid-rich leucine zipper 1;disrupter of silencing 10;disrupter of silencing SAS10;something about silencing protein 10 protein-coding ENSG00000132467 24477 18016 611614 VALIDATED 1603639 UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) 17 17 17 q11.2 27109830 27148402 - 27214303 27252842 - 30190190 30228729 - 6480464;6907045 17632510;17380155;16189514;16138909;15635413;15489334;14702039;12477932;12429849;12097419;10843809;8125298;22586326;19299467;19454010;22939629;16147992;18029348;21139048;21890473;21906983;21987572 55813 J3KRR8;J3QSA7;Q9NYH9 ABBA01014946;ABBA01014947;ABBA01014948;AC004253;AC129917;AF116631;AF244135;AF334386;AJ272197;AK057202;AK126564;AK225448;AK299806;AK315929;AMYH01008325;AMYH01008326;BC015454;BC035325;CH471147;NM_018428 AAF66244;AAF71054;AAH15454;AAH35325;AAO15382;BAG51883;BAG54344;BAG61681;BAH14300;CAB77268;EAW80259;NP_060898;Q9NYH9 Hs.589862 1648147;2153845;5024761;5037552 D8S2279;RH123;RH36905;SHGC-34334 C17orf40;HCA66 OTTHUMP00000163709;U3 small nucleolar RNA-associated protein 6 homolog;hepatocellular carcinoma associated antigen 66;hepatocellular carcinoma-associated antigen 66;multiple hat domains protein protein-coding 18279 11020 VALIDATED 1603529 UTS2B urotensin 2B 3 3 3 q28 189413735 189477117 - 192468042 192482734 - 190984944 191048325 - 6480464 18000598;17919235;17327028;16940699;16344560;14702039;14550283;12477932;21116278;16754659;21684671 257313 C9JU87;F2Z3I1;F8WCV4;Q765I0 AB116021;ABBA01058317;ABBA01058318;AC068645;AC126567;AK090630;AMYH01013761;AY321313;BC112166;CH471052;DB068521;NM_198152 AAI12167;AAQ83883;BAC98929;BAG52200;EAW78091;EAW78092;EAW78093;EAW78094;NP_937795;Q765I0 Hs.518492 1700272 RH103754 MGC138371;U2B;URP;UTS2D OTTHUMP00000209349;OTTHUMP00000209354;U-IIB;UIIB;prepro-URP;urotensin 2 domain containing;urotensin II-related peptide;urotensin IIB;urotensin-2 domain-containing protein;urotensin-2B APPROVED protein-coding ENSG00000188958 30894 15630 VALIDATED 1342500 UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012] Y Y q11 13869657 14101944 - 15360259 15592550 - 1580863;6480464 18511697;15758204;14660691;12815422;12665801;12477932;11049993;10861003;10767340;10679124;9854018;9499428;9381176;8944031;18029348;19047629;17452356;21329462 7404 A6NCS7;E1NZ93;E1U198;E1U1M3;E1U1M9;F4MH27;F4MH29;F4MH30;F4MH31;F4MH32;F4MH35;F4MH36;F4MH40;F4MH46;F4MH47;F4MH50;F4MH51;F4MH60;F4MH62;F4MH91;F4MH92;F5GWV3;F5H3N7;F5H8B4;O14607 ABBA01065511;ABBA01065512;ABBA01065513;ABBA01065514;ABBA01065515;ABBA01065516;ABBA01065517;ABBA01065518;ABBA01065519;ABBA01065520;ABBA01065521;ABBA01065522;ABBA01065523;ABBA01065524;ABBA01065525;ABBA01065526;ABBA01065527;ABBA01065528;ABBA01065529;ABBA01065530;ABBA01065531;ABBA01065532;ABBA01065533;ABBA01065534;ABBA01065535;ABBA01065536;ABBA01065537;ABBA01065538;ABBA01065539;ABBA01065540;ABBA01065541;ABBA01065542;ABBA01065543;ABBA01065544;ABBA01065545;ABBA01065546;ABBA01065547;ABBA01065548;ABBA01065549;ABBA01065550;ABBA01065551;AC005820;AC006376;AC010877;AF000994;AF000995;AF000996;AF132076;AF265575;AK292858;AK308952;AY591407;AY682463;AY730613;AY769061;AY769062;AY769063;AY769064;AY769065;AY769066;AY769067;AY769068;AY769069;AY934848;AY934849;AY934850;AY934851;AY934852;AY934853;AY934854;AY934855;AY934856;AY934857;BC012581;BC029389;BC051718;BC071744;CH471155;CR936684;DQ012094;DQ140388;DQ140389;DQ140390;DQ341385;DQ341386;DQ341387;DQ345542;DQ345543;DQ345544;DQ350456;DQ350457;DQ350458;DQ350459;EF491796;EF612660;EF612661;EF612662;EF612663;EF612664;EF612665;EF612666;EF612667;EF612668;EF612669;EF612670;EF612671;EF612672;EF612673;EF612674;EF612675;EF612676;EF612677;EF612678;EF612679;EF612680;EF612681;EF612682;EF612683;EF612684;EF612685;EF612686;EF612687;EF612688;EF612689;EF612690;EF612691;EF612692;EF612693;EF612694;EF612695;EF612696;EF612697;EF612698;EF612699;EF653165;EF653166;EF653167;EF653168;EF653169;EF653170;EF653171;EF653172;EF653173;EF653174;EF653175;EF653176;EF653177;EF653178;EF653179;EF653180;EF653181;EF653182;EF653183;EF653184;EF653185;EF653186;EF653187;EF653188;EF653189;EF653190;EF653191;EF653192;EF653193;EF653194;EF653195;EF653196;EF653197;EF653198;EF653199;EF653200;EF653201;EF653202;EF653203;EF653204;EF653205;EF653206;EF653207;EF653208;EF653209;EF653210;EF653211;EF653212;EF653213;EF653214;EF653215;EF653216;EF653217;EF653218;EF653219;EF653220;EF653221;EF653222;EF653223;EF653224;EF685283;EF685284;EF685285;EF685286;EF685287;EF685288;EF685289;EF685290;EF685291;EF685292;EF685293;EF685294;EF685295;EF685296;EF685297;EF685298;EF685299;EF685300;EF685301;EF685302;EF685303;EF685304;EF685305;EF685306;EF685307;EF685308;EF685309;EF685310;EF685311;EF685312;EF685313;EF685314;EF685315;EF685316;EF685317;EF685318;EF685319;EF685320;EF685321;EF685322;EF685323;EF685324;EF685325;EF685326;EF685327;EF685328;EF685329;EF685330;EF685331;EF685332;EF685333;EF685334;EF685335;EF685336;EF685337;EF685338;EF685339;EF685340;EF685341;EF685342;EU026275;EU026276;EU026277;EU026278;EU026279;EU026280;EU026281;EU026282;EU026284;EU026285;EU026286;EU026287;EU026288;EU026289;EU026290;EU026292;EU026293;EU026294;EU026295;EU026296;EU026297;EU026298;EU026299;EU026300;EU026301;EU026302;EU026303;EU026304;EU026305;EU026306;EU026307;EU026308;EU026309;EU026310;EU026311;EU026312;EU026313;EU026314;EU026315;EU026316;EU026317;EU026318;EU026319;EU026320;EU026321;EU026322;EU026323;EU026324;EU026325;EU026326;EU026327;EU026328;EU026329;EU026330;EU026331;EU026332;EU026333;EU026334;EU026335;EU026336;EU026337;EU026338;EU026339;EU026340;EU026341;EU026342;EU026343;EU026344;EU026345;EU026346;EU026347;EU026348;EU026349;EU026350;EU026351;EU116343;EU116344;EU116345;EU116346;EU116347;EU116348;EU116349;EU116350;EU116351;EU116352;EU116353;EU163941;EU163942;EU163943;NM_001258249;NM_001258250;NM_001258251;NM_001258252;NM_001258253;NM_001258254;NM_001258255;NM_001258256;NM_001258257;NM_001258258;NM_001258259;NM_001258260;NM_001258261;NM_001258262;NM_001258263;NM_001258264;NM_001258265;NM_001258266;NM_001258267;NM_001258268;NM_001258269;NM_001258270;NM_007125;NM_182659;NM_182660;NR_047596;NR_047597;NR_047598;NR_047599;NR_047600;NR_047601;NR_047602;NR_047603;NR_047604;NR_047605;NR_047606;NR_047607;NR_047608;NR_047609;NR_047610;NR_047611;NR_047612;NR_047613;NR_047614;NR_047615;NR_047616;NR_047617;NR_047618;NR_047619;NR_047620;NR_047621;NR_047622;NR_047623;NR_047624;NR_047625;NR_047626;NR_047627;NR_047628;NR_047629;NR_047630;NR_047631;NR_047632;NR_047633;NR_047634;NR_047635;NR_047636;NR_047637;NR_047638;NR_047639;NR_047640;NR_047641;NR_047642;NR_047643;NR_047644;NR_047645;NR_047646;NR_047647 AAC51841;AAC51842;AAC51843;AAF36521;AAF77052;AAH51718;AAH71744;AAI40392;AAT86083;AAU87837;AAU93524;AAX07231;AAX07232;AAX07233;AAX07234;AAX07235;AAX07236;AAX07237;AAX07238;AAX07239;AAY16579;AAY16580;AAY16581;AAY16582;AAY16583;AAY16584;AAY16585;AAY16586;AAY16587;AAY16588;AAY68207;ABA25869;ABA25870;ABA25871;ABC73373;ABC73374;ABC73375;ABC73376;ABC75707;ABC75708;ABC75709;ABC87284;ABC87285;ABC87286;ABR09226;ABR09227;ABR09228;ABR09229;ABR09230;ABR09231;ABR09232;ABR09233;ABR09234;ABR09235;ABR09236;ABR09237;ABR09238;ABR09239;ABR09240;ABR09241;ABR09242;ABR09243;ABR09244;ABR09245;ABR09246;ABR09247;ABR09248;ABR09249;ABR09250;ABR09251;ABR09252;ABR09253;ABR09254;ABR09255;ABR09256;ABR09257;ABR09258;ABR09259;ABR09260;ABR09261;ABR09262;ABR09263;ABR09264;ABR09265;ABS19004;ABS19005;ABS19006;ABS19007;ABS19008;ABS19009;ABS19010;ABS19011;ABS19012;ABS19013;ABS19014;ABS19015;ABS19016;ABS19017;ABS19018;ABS19019;ABS19020;ABS19021;ABS19022;ABS19023;ABS19024;ABS19025;ABS19026;ABS19027;ABS19028;ABS19029;ABS19030;ABS19031;ABS19032;ABS19033;ABS19034;ABS19035;ABS19036;ABS19037;ABS19038;ABS19039;ABS19040;ABS19041;ABS19042;ABS19043;ABS19044;ABS19045;ABS19046;ABS19047;ABS19048;ABS19049;ABS19050;ABS19051;ABS19052;ABS19053;ABS19054;ABS19055;ABS19056;ABS19057;ABS19058;ABS19059;ABS19060;ABS19061;ABS19062;ABS19063;ABV49411;ABV49412;ABV49413;ABV49414;ABV49415;ABV49416;ABV49417;ABV49418;ABV49419;ABV49420;ABV49421;ABV49422;ABV49423;ABV49424;ABV49425;ABV49426;ABV49427;ABV49428;ABV49429;ABV49430;ABV49431;ABV49432;ABV49433;ABV49434;ABV49435;ABV49436;ABV49437;ABV49438;ABV49439;ABV49440;ABV49441;ABV49442;ABV49443;ABV49444;ABV49445;ABV49446;ABV49447;ABV49448;ABV49449;ABV49450;ABV49451;ABV49452;ABV49453;ABV49454;ABV49455;ABV49456;ABV49457;ABV49458;ABV49459;ABV49460;ABV49461;ABV49462;ABV49463;ABV49464;ABV49465;ABV49466;ABV49467;ABV49468;ABV49469;ABV49470;ABV82606;ABV82607;ABV82608;ABV82609;ABV82610;ABV82611;ABV82612;ABV82613;ABV82615;ABV82616;ABV82617;ABV82618;ABV82619;ABV82620;ABV82621;ABV82623;ABV82624;ABV82625;ABV82626;ABV82627;ABV82628;ABV82629;ABV82630;ABV82631;ABV82632;ABV82633;ABV82634;ABV82635;ABV82636;ABV82637;ABV82638;ABV82639;ABV82640;ABV82641;ABV82642;ABV82643;ABV82644;ABV82645;ABV82646;ABV82647;ABV82648;ABV82649;ABV82650;ABV82651;ABV82652;ABV82653;ABV82654;ABV82655;ABV82656;ABV82657;ABV82658;ABV82659;ABV82660;ABV82661;ABV82662;ABV82663;ABV82664;ABV82665;ABV82666;ABV82667;ABV82668;ABV82669;ABV82670;ABV82671;ABV82672;ABV82673;ABV82674;ABV82675;ABV82676;ABV82677;ABV82678;ABV82679;ABV82680;ABV82681;ABV82682;ABV82683;ABV82684;ABV82685;ABV82686;ABV82687;ABV82688;ABV82689;ABV82690;ABV82691;ABV82692;ABV82693;ABW16939;ABW16940;ABW16941;BAF85547;EAW91613;NP_001245178;NP_001245179;NP_001245180;NP_001245181;NP_001245182;NP_001245183;NP_001245184;NP_001245185;NP_001245186;NP_001245187;NP_001245188;NP_001245189;NP_001245190;NP_001245191;NP_001245192;NP_001245193;NP_001245194;NP_001245195;NP_001245196;NP_001245197;NP_001245198;NP_001245199;NP_009056;NP_872600;NP_872601;O14607 Hs.115277 1646321;1690804;1711874;1747093;1747303;1747305;1747307;1747309;1747311;1747313;1747315;1747317;1747319;1747321;1747323;1747325;1747327;1747329;1789691;2113586;2151735;2188367;2188373;2188829;2188831;2188875;2190405;2190407;2190409;2190411;2190413;2190415;5021660;5021662;5021664;5021666;5021750;5021830;5022909;5022911;5022913;5022915;5023027;5093774;5115778;5115780;5115782;5115784;5115786;5115788;5115790;5115792;5115794;5115796;5115798;5115800;5115802;5115804;5115806;5115808;5115810;5115812;5115814;5115816;5115818;5115976;5116372;5116374;5116384;5116386 A009W21;G32915;G34977;G49471;G64986;G65227;G65228;G65229;G65230;G65231;G65232;G65233;G65241;G65246;G65247;G65248;G65249;G65250;G65251;G65841;G65842;G65947;G66222;G66226;M225;M229;M230;M231;M233;M234;RH79927;UTY-1;UTY-10;UTY-11;UTY-12;UTY-13;UTY-14;UTY-15;UTY-16-1;UTY-16-2;UTY-17;UTY-18;UTY-19;UTY-2;UTY-20;UTY-20a;UTY-21;UTY-22;UTY-23;UTY-24;UTY-25;UTY-26;UTY-27;UTY-28;UTY-3;UTY-4;UTY-5;UTY-6;UTY-7;UTY-9;UTY3pe;sY1231;sY1767;sY1769;sY2930;sY2931;sY2932;sY2938;sY2939;sY2943 DKFZp686L12190;UTY1 OTTHUMP00000034500;OTTHUMP00000034501;OTTHUMP00000034502;histone demethylase UTY;tetratricopeptide repeat protein;ubiquitous TPR motif protein UTY;ubiquitously transcribed TPR gene on Y chromosome;ubiquitously transcribed TPR protein on the Y chromosome;ubiquitously transcribed Y chromosome tetratricopeptide repeat protein;ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome;ubiquitously transcribed tetratricopeptide repeat gene, Y-linked;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 10;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 100;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 101;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 102;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 103;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 104;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 105;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 106;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 107;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 108;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 109;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 11;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 110;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 111;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 112;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 113;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 114;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 115;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 116;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 117;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 118;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 119;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 12;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 120;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 121;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 122;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 123;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 124;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 125;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 126;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 127;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 128;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 129;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 13;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 130;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 131;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 132;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 133;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 134;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 135;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 136;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 137;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 138;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 139;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 14;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 140;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 141;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 142;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 143;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 144;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 145;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 146;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 147;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 148;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 149;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 15;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 150;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 151;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 152;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 153;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 154;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 155;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 156;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 157;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 158;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 159;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 16;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 160;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 161;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 162;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 163;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 164;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 165;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 166;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 167;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 168;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 169;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 17;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 170;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 171;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 172;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 173;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 174;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 175;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 176;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 177;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 178;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 179;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 18;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 180;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 181;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 182;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 183;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 184;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 185;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 186;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 187;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 188;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 189;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 19;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 190;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 191;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 192;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 193;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 194;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 195;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 196;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 197;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 198;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 199;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 20;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 200;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 201;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 202;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 203;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 204;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 205;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 206;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 207;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 208;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 209;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 21;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 210;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 211;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 212;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 213;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 214;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 215;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 216;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 217;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 218;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 219;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 22;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 220;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 221;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 222;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 223;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 224;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 225;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 226;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 227;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 228;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 229;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 23;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 230;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 231;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 232;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 233;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 234;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 235;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 236;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 237;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 238;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 239;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 24;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 240;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 241;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 242;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 243;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 244;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 245;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 246;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 247;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 248;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 249;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 25;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 250;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 251;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 252;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 253;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 254;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 255;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 256;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 257;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 258;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 259;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 26;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 260;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 261;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 262;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 263;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 264;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 265;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 266;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 267;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 268;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 269;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 27;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 270;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 271;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 272;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 273;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 274;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 275;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 276;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 277;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 278;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 279;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 28;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 280;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 281;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 282;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 283;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 284;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 285;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 286;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 287;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 29;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 30;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 31;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 32;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 33;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 34;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 35;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 36;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 37;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 38;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 39;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 40;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 41;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 42;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 43;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 44;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 45;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 46;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 47;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 48;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 49;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 50;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 51;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 52;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 53;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 54;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 55;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 56;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 57;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 58;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 59;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 60;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 61;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 62;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 63;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 64;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 65;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 66;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 67;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 68;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 69;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 70;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 71;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 72;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 73;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 74;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 75;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 76;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 77;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 78;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 79;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 80;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 81;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 82;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 83;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 84;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 85;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 86;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 87;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 88;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 89;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 90;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 91;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 92;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 93;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 94;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 95;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 96;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 97;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 98;ubiquitously transcribed tetratricopeptide repeat protein Y-linked transcript variant 99;ubiquitously-transcribed TPR protein on the Y chromosome;ubiquitously-transcribed Y chromosome tetratricopeptide repeat protein APPROVED protein-coding ENSG00000183878 12638 02451 400009 REVIEWED 7244455 VAC14-AS1 VAC14 antisense RNA 1 14702039 100130894 ABBA01010649;AC020763;AK095020;AMYH01007787;BC035152;CH471241;DB487352;NR_034083 BAC04476;EAW51796 Hs.678899 1738681;5037552 D16S2796;D8S2279 miscrna ENSG00000214353 48605 VALIDATED 1605974 UVSSA UV-stimulated scaffold protein A The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex to help repair UV-induced DNA damage. Defects in this gene can cause UV-sensitive syndrome 3. [provided by RefSeq, May 2012] 4 4 p16.3 1331104 1371732 + 1341104 1381837 + 6480464 20834067;17207965;12477932;10819331;22902626;23631307;22466610;22466611;22466612;21139048 57654 H0Y924;Q2YD98 AB040963;ABBA01019363;AC078852;AC118281;AK292661;AL110229;AL390128;AMYH01013859;BC021930;BC110331;BC140901;CH471131;EL735271;NG_032753;NM_020894 AAH21930;AAI10332;AAI40902;BAA96054;BAF85350;CAH10662;EAW82584;NP_065945;Q2YD98 Hs.380475 1657080;1850229;2147230;5022450;5022649 D10S275;D11S2875;SHGC-58150;SHGC-59630;SHGC-67909 KIAA1530;MGC117169;UVSS3 OTTHUMP00000217693;OTTHUMP00000217694;OTTHUMP00000217695;UV-stimulated scaffold protein A;hypothetical protein LOC57654;uncharacterized protein KIAA1530 APPROVED protein-coding ENSG00000163945 29304 17216 614632;614640 REVIEWED 1317170 UVRAG UV radiation resistance associated This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008] 11 11 q13.5 75203860 75532930 + 75526212 75855282 + 1580863;4889529;6480464 20034776 9169138;18843052;18641390;18552835;18495205;17106237;16799551;16344560;14737099;14702039;12928850;12477932;10798355;9533029;8125298;2332174;19270696;20163458;20379614;20562859;20643123;20724836;21597469;22314358;22493499;22542840;21139048;21606679;23200933 7405 B3KTC1;B7Z6A0;E9PK00;E9PR71;H0YDD1;Q9P2Y5 AB012958;ABBA01017455;ABBA01017456;ABBA01017457;ABBA01017458;ABBA01017459;AK095352;AK222772;AK291011;AK293782;AK296871;AK311341;AK316133;AMYH01003819;AMYH01003820;AMYH01003821;AP002340;AP003031;AP003168;BC013176;BC064837;CH471076;DB087351;NM_003369;X99050 AAH64837;BAA90829;BAD96492;BAF83700;BAG53033;BAG57197;BAG59434;BAH14504;CAA67507;EAW74986;EAW74987;NP_003360;Q9P2Y5 Hs.202470 1338714;1668720;1684642;1704106;1709144;1712955;1720229;1723377;1724261;1726973;1737871;1739185;1739789;1782290;1851747;2171810;2172566;2185822 D11S1321;D11S2405;D11S3474;D11S3956;D11S4054E;G02246;G17578;G62733;RH120567;RH121273;RH123240;RH123863;RH91319;SHGC-112556;SHGC-37600;SHGC-83374;SHGC-85733;WI-11862 DHTX;VPS38;p63 OTTHUMP00000229362;OTTHUMP00000229363;UV radiation resistance-associated gene protein;beclin 1 binding protein;disrupted in heterotaxy APPROVED protein-coding 12640 03929 602493 REVIEWED 1347283 VAC14 Vac14 homolog (S. cerevisiae) The content of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) in endosomal membranes changes dynamically with fission and fusion events that generate or absorb intracellular transport vesicles. VAC14 is a component of a trimolecular complex that tightly regulates the level of PtdIns(3,5)P2. Other components of this complex are the PtdIns(3,5)P2-synthesizing enzyme PIKFYVE (MIM 609414) and the PtdIns(3,5)P2 phosphatase FIG4 (MIM 609390). VAC14 functions as an activator of PIKFYVE (Sbrissa et al., 2007 [PubMed 17556371]).[supplied by OMIM, Feb 2010] 16 16 16 q22.1 54687481 54803215 + 69278843 69392562 - 70721342 70835061 - 634487;6480464 12719380 17353931;22261722;8611628;18950639;17956977;17556371;17161399;15542851;14702039;12477932;20630877;19037259;19840946;20379614;21832049;22610972;22939629 55697 B3KSM8;H3BN23;H3BQD9;H3BUU8;J3QLC3;Q08AM6;Q9NTB8 ABBA01010649;AC020763;AC027281;AK001167;AK025479;AK056433;AK090627;AK093941;AK128439;AK297564;AK307766;AK310466;AL137396;AMYH01007787;BC000536;BC007214;BC110072;BC110852;BC125108;BC125109;CH471241;CR457343;NM_018052;U25801 AAB03813;AAH00536;AAH07214;AAI25109;AAI25110;BAA91530;BAB15145;BAG51707;BAG52790;BAG59956;CAB70724;CAG33624;EAW51791;EAW51792;EAW51793;EAW51794;EAW51795;NP_060522;Q08AM6 Hs.445061 1662738;1727273;1737553;1738681;1764761;2161854;2177340;2184667 D16S2659;D16S2796;D16S3397;G63042;SHGC-148340;SHGC-61090;STS-AA011691;STS-U25801 ArPIKfyve;FLJ10305;FLJ36622;FLJ46582;MGC149815;MGC149816;TAX1BP2;TRX OTTHUMP00000174908;Tax1 (human T-cell leukemia virus type I) binding protein 1;Tax1 (human T-cell leukemia virus type I) binding protein 2;protein VAC14 homolog;tax1-binding protein 2 APPROVED protein-coding ENSG00000103043 25507 07660 604632 VALIDATED 735996 UXS1 UDP-glucuronate decarboxylase 1 This gene encodes an enyzme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 2 2 2 q12.2 100910185 101011254 - 106076191 106177227 - 106709759 106810795 - 6480464;6907045 19027726;16303743;15815621;15489334;14702039;12975309;12477932;12391314;11877387;8125298;19913121;20628086;19028698;20379614;20877624;23656592;21294126;16344560 80146 B3KV61;B4E3U7;C9J3T9;C9JCB7;C9JE50;C9JFU6;C9JW33;Q8NBZ7 ABBA01073843;ABBA01073844;AC018878;AI217133;AK027244;AK056022;AK075120;AK075170;AK122696;AK225592;AK290668;AK304872;AL834439;AMYH01010837;AMYH01010838;AMYH01010839;AMYH01010840;AY147934;AY358541;BC009819;BI550591;BI825770;BM472113;BX366726;CF242897;CH471127;CQ783167;CQ783244;DB379311;NM_001253875;NM_001253876;NM_025076;NR_045607 AAH09819;AAN39844;AAQ88905;AAY15085;ABM84178;ABM87580;BAB15705;BAC11415;BAC11448;BAF83357;BAG53673;BAG65609;CAD39099;CAF86373;CAF86438;EAX01747;EAX01748;EAX01749;EAX01750;NP_001240804;NP_001240805;NP_079352;Q8NBZ7 Hs.469561;Hs.743389 1657153;1670695;1676842;1703886;1753451;1755123;1761353;2116528;2124667;2136424 RH12428;RH18480;RH26280;RH36460;RH70063;SHGC-107402;SHGC-142052;SHGC-145369;SHGC-83592;WIAF-1518 FLJ23591;SDR6E1;UGD OTTHUMP00000203222;OTTHUMP00000203223;UDP-glucuronic acid decarboxylase 1;UXS-1;short chain dehydrogenase/reductase family 6E, member 12 APPROVED protein-coding ENSG00000115652 17729 15642 609749 VALIDATED 736120 VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. VAMP1 is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Multiple alternative splice variants that encode proteins with alternative carboxy ends have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008] 12 12 12 p 8188292 8196732 - 6441664 6450104 - 6571403 6579843 - 1580863;6480464 18457912;9920726;1976629;17903296;12878157;12477932;12093152;10544008;9658161;9657962;9396746;8760387;8663154;16341674;20877624;22958904;21330375;21139048;21890473;21906983;22505724 6843 F5GZV7;P23763 ABBA01017642;AC005840;AF060538;AK289498;AK296294;AK303137;AK309184;AMYH01004203;AU279974;BC023286;BE246448;BF338798;BF341451;BI838752;BM837373;BQ717992;CB215628;CH471116;CR542214;CR542231;CR749485;M36196;M36197;M36198;M36199;M36200;NM_014231;NM_016830;NM_199245;R83084;Z48924 AAA60603;AAC28336;AAH23286;BAF82187;BAG58997;BAG64241;CAA88760;CAG47010;CAG47027;CAH18312;EAW88792;EAW88793;EAW88794;EAW88795;EAW88796;NP_055046;NP_058439;NP_954740;P23763 Hs.20021 1657175;1663248;1687734;1733580;1742889;1743987;1798306;2132221;2153950;2182435;7184677;7185104 D12S111E;D12S1215E;D12S900;G41275;GDB:214816;GDB:384731;RH44502;RH80806;STS-M36200;VAMP1_2267 DKFZp686H12131;SYB1;VAMP-1 OTTHUMP00000238453;OTTHUMP00000238454;OTTHUMP00000238455;OTTHUMP00000238560;OTTHUMP00000238561;synaptobrevin 1;synaptobrevin-1;vesicle-associated membrane protein 1 APPROVED protein-coding ENSG00000139190 12642 01716 185880 REVIEWED 1347196 UXT ubiquitously-expressed, prefoldin-like chaperone The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] X X p11.23-p11.22 47396139 47403504 - 47511191 47518579 - 1580863;6480464 21307340;12762840;16221885;17761951;17635584;17620405;17554592;15772651;15489334;15231747;14711828;12477932;11944989;11854421;11827465;11042152;10087202;8125298;14645504;11799066;14615539;15264020;17643375;19450687;21832049;22933289;21730289;16344560;21907703;20309963;21987572;22131337;21139048;21890473;21906983;19318562;22505724 8409 Q9UBK9 ABBA01052394;AF083241;AF083242;AF092737;AK223320;AK312072;AL009172;AMYH01022264;BC000720;BC008890;BM471483;BQ681820;CH471164;CQ834162;CQ834164;DA372561;EL949569;NM_004182;NM_153477;NR_045559;NR_045560 AAD28698;AAD39839;AAD39840;AAH00720;AAH08890;BAG35008;CAH05296;CAH05297;EAW59324;EAW59325;EAW59326;NP_004173;NP_705582;Q9UBK9 Hs.172791;Hs.735566 2144406;2189433 MARC_5871-5872:991939768:1;RH18409 ART-27;STAP1 OTTHUMP00000023226;OTTHUMP00000023227;SKP2-associated alpha PFD 1;androgen receptor trapped clone 27 protein;protein UXT;ubiquitously expressed transcript protein APPROVED protein-coding ENSG00000126756 12641 02209 300234 REVIEWED 735448 VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008] 17 17 p13.1 8003189 8007017 - 8062465 8066293 - 2302393;2302397;2311087;2312656;6480464;6484113;6907045 17717074;18570632;19295123;18431594 12832401;10100611;10036234;9817754;9658161;9657962;9341137;9030619;8999968;8973549;8770861;8760387;8125298;8011337;7961655;7835332;7499863;12130530;7622514;12828989;10820264;10194441;10449403;7553862;11524423;9396746;9920726;1976629;18628682;18512733;18511418;18511417;18182011;17356306;17331077;17313651;17196367;17001002;16195891;15327778;14702039;12853575;12847087;12773094;12517971;12485399;12477932;12417022;12200427;12181340;12093152;11842301;11832227;11786915;11295657;11278762;11101518;10965122;10932255;10713150;10662545;10370136;10336434;15610015;22318606;20471030;12750892;20676083;22890573;17207965;11031247;11252894;11994746;19478182;19557857;19822142;20416077;8071310;22939629;21808019;19546860;21139048;21906983;22172278;22505724;22645275 6844 F8WCA0;J3QRU4;K7ENK9;P63027 ABBA01054898;AC129492;AF135372;AJ225044;AK021522;AK225777;AK289555;AL050223;AMYH01008088;BC002737;BC019608;BC033870;BU625107;CH471108;M36201;M36202;M36203;M36204;M36205;NM_014232 AAA60604;AAF15551;AAH02737;AAH19608;AAH33870;ADQ33174;BAF82244;CAA12385;CAH10733;EAW90086;EAW90087;NP_055047;P63027 Hs.25348 1777252;2128038;2137839 RH44899;RH55329;WIAF-1699 FLJ11460;SYB2;VAMP-2 OTTHUMP00000196787;OTTHUMP00000196788;synaptobrevin 2;synaptobrevin-2;vesicle associated membrane protein 2;vesicle-associated membrane protein 2 APPROVED protein-coding ENSG00000220205 12643 01717 185881 REVIEWED 736779 VAMP3 vesicle-associated membrane protein 3 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008] 1 1 p36.23 7753916 7764079 + 7831329 7841492 + 1580863;4892310;6480464 20548331 9885218;19159614;18628682;16710414;16354670;15525538;15489334;12828989;12665801;12477932;12130530;11839770;11809765;11786915;11278762;11101518;10820264;9817754;9701566;9614185;9396746;8973549;12556468;16189514;16169070;15610015;21094665;20098747;18195106;19061864;19910495;21102463;19478182;19781582;20416077;21832049;22939629;21987572;21139048;21890473;21906983;21963094;22053931;23000965;23353890;22573826;22699663;20299515;22505724;22797925 9341 K7EKX0;Q15836;Q6FGG2;Q9BRV4 ABBA01035489;AK316558;AMYH01000224;BC003570;BC005941;BC007050;BT007327;CH471130;CR542145;CR542154;NM_004781;U64520;Z98884 AAB05814;AAH03570;AAH05941;AAH07050;AAP35991;BAG38147;CAG46942;CAG46951;EAW71582;NP_004772;Q15836 Hs.66708 1667273;2118305;2167630 G06229;SHGC-31853;WI-19810 CEB OTTHUMP00000001361;VAMP-3;cellubrevin;synaptobrevin-3;vesicle-associated membrane protein 3 APPROVED protein-coding ENSG00000049245 12644 04711 603657 REVIEWED 1350486 VAMP5 vesicle-associated membrane protein 5 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008] 2 2 2 p11.2 85639815 85648795 + 85665042 85674022 + 85811531 85820511 + 1580863;6480464 9725904;16110299;15489334;12682051;12477932;11042152;22990118;21743467;22505724 10791 O95183;Q6FG93 ABBA01075761;AC016753;AF054825;AF077197;AF151025;AK292660;AMYH01010496;BC017891;CH471053;CR542215;NM_006634 AAC97473;AAD26992;AAF36111;AAH17891;AAY24342;ABM82898;ABM86088;BAF85349;CAG47011;EAW99508;NP_006625;O95183 Hs.534373 2110029;2151503;2163148 RH77700;SGC32754;VAMP5_9179 OTTHUMP00000160670;VAMP-5;myobrevin;vesicle-associated membrane protein 5 APPROVED protein-coding ENSG00000168899 12646 09513 607029 REVIEWED 1320258 VAMP4 vesicle-associated membrane protein 4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008] 1 1 1 q24-q25 144778698 144820780 - 169938783 169977837 - 171669296 171711379 - 6480464 9553086;17081983;15896658;15489334;14702039;14608369;12682051;12477932;11839770;11598115;10839363;10359608;9110174;8619474;16189514;15345747;16344560;21805468;22406549;21963094;23585472;20685960 8674 O75379;Q6IAZ3 ABBA01027925;AF044310;AF052100;AK056124;AK123624;AK290441;AL035296;AMYH01001496;BC005974;BC007019;BC031264;CH471067;CR457011;DB167275;NM_001185127;NM_003762;NR_033704;Z98751 AAC24032;AAH05974;AAH07019;AAH31264;BAF83130;CAA22896;CAG33292;EAW90904;EAW90905;EAW90906;EAW90907;EAW90908;EAW90909;NP_001172056;NP_003753;O75379 Hs.6651 1692332;1692778;1692828;1692836;1696600;1698002;1757155;1770656;2114859;2179061;2179063;2186746;5092936 A009C32;AL033823;AL034156;D1S2351;D1S2532;D1S3031;G32422;G42281;G42285;RH102530;SHGC-144585;SHGC-75917;SHGC-82902 VAMP-4;VAMP24 OTTHUMP00000190887;OTTHUMP00000190888;OTTHUMP00000233988;vesicle-associated membrane protein 4 APPROVED protein-coding ENSG00000117533 12645 06070 606909 REVIEWED 1350434 VAMP7 vesicle-associated membrane protein 7 This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] X;Y X;Y q28 and Yq12 154764207 154826614 + 59213949 59276439 + 1580863;4892310;6480464 20548331 18042464;16430921;16381901;16195891;15610015;15489336;15489334;15470500;14672948;12853575;12477932;12444103;12175335;11840509;11786915;11440841;11278762;11101518;11076863;10655549;10564831;9614185;8640232;8125298;18253931;16354670;14993220;16495485;10888671;15133481;10459012;19138172;18819912;18775314;18571410;18362137;6495485;22589474;11031247;11252894;19745841;19781582;20144992;20378544;23104059;21674799;22188132;21609427;18029348;21805468;21139048;21890473;21906983;21987572;22002060;22323709;21963094;22053931;22951367;23000965;23471971;19451649;23322049 6845 E5RH06;P51809 ABBA01028632;AI042181;AI522002;AJ271736;AJ295938;AJ549301;AK222794;AK293525;AK295605;AK297385;AK312658;AMYH01023345;BC056141;CH471247;DC341378;NG_021435;NM_001145149;NM_001185183;NM_005638;NR_033714;NR_033715;X92396 AAH56141;BAD96514;BAG35541;BAG57007;BAG58491;BAG59826;CAA63133;CAB96816;CAC16891;CAD70593;CAL38010;EAW55877;EAW55878;EAW55879;EAW55880;EAW55881;EAW55882;EAW55883;NP_001138621;NP_001172112;NP_005629;P51809 Hs.24167 1684126;1703068;1740337;5017915 GDB:451553;RH70940;SYBL1;UniSTS:154379 FLJ53045;FLJ53762;FLJ54296;SYBL1;TI-VAMP;TIVAMP;VAMP-7 OTTHUMP00000024258;OTTHUMP00000024259;OTTHUMP00000225953;synaptobrevin-like 1;synaptobrevin-like protein 1;tetanus neurotoxin-insensitive VAMP;tetanus-insensitive VAMP;vesicle-associated membrane protein 7 APPROVED protein-coding ENSG00000124333 11486 02084 300053 REVIEWED 1343974 VARS1 valyl-tRNA synthetase 1 7406 12650 1319787 VANGL2 VANGL planar cell polarity protein 2 The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011] 1 1 1 q22-q23 133439094 133467201 + 158636988 158665088 + 160370364 160398468 + 1580863;2293492;2298799;6480464;6907045 17226800;12011999 15489334;18034999;16710414;15195140;12490194;12477932;11431695;10574462;20223754;18849982;19577357;19734545;20558380;21142127;20738329;21139048;23579212 57216 A8K4L6;Q9ULK5 AB033041;ABBA01016612;AK290981;AL137558;AL445230;AMYH01001453;BC103920;BG059541;BU162175;BX420618;CH471121;NG_023420;NM_020335 AAI66628;BAA86529;BAF83670;EAW52717;EAW52718;NP_065068;Q9ULK5 Hs.99477 1683856;2110797;2161529 AL009375;RH92930;VANGL2__5059 KIAA1215;LPP1;LTAP;MGC119403;MGC119404;STB1;STBM;STBM1 OTTHUMP00000031861;loop-tail protein 1 homolog;loop-tail-associated protein;strabismus 1;van Gogh-like protein 2;vang, van gogh-like 2;vang-like 2 (van gogh, Drosophila);vang-like protein 2 APPROVED protein-coding ENSG00000162738 15511 02758 600533 REVIEWED 1347649 VAMP8 vesicle-associated membrane protein 8 This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] 2 2 p12-p11.2 85658228 85662665 + 85804614 85809156 + 6480464 9614193;19282863;19023099;18570918;18253931;18073581;17975119;16690874;16195891;16110299;15815621;15489334;12828989;12477932;12130530;11786915;11278762;11112705;11101518;11839770;11029036;10820264;10601239;10336434;9878266;8889548;19913121;20089838;20628086;11031247;11252894;11694590;19374688;19738360;19752551;19943878;20533276;9144278;20877624;21486954;21674799;21987572;21139048;21890473;21906983;22192511;21743467;22144578;22053931 8673 B8ZZT4;C9JXZ5;Q9BV40 ABBA01075759;ABBA01075760;AC016753;AF053233;AMYH01010496;BC001634;BM702226;BQ227618;BT006700;BX092149;CD367710;CH471053;CR456995;NG_022887;NM_003761 AAC08434;AAH01634;AAP35346;AAY24341;CAG33276;EAW99506;NP_003752;Q9BV40 Hs.714302 1674545;1684064;1721665 D2S2607;G59843;RH98261 EDB;VAMP-8 OTTHUMP00000160683;OTTHUMP00000203083;vesicle-associated membrane protein 8;vesicle-associated membrane protein 8 (endobrevin) APPROVED protein-coding ENSG00000118640 12647 04415 603177 REVIEWED 1319967 VANGL1 VANGL planar cell polarity protein 1 This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] 1 1 p13.1 115986097 116042368 + 116184574 116240845 + 1580863;6480464;6907045;7240710 15205336;19319979;19166844;17409324;16410243;15952208;15489334;15456783;12477932;22179838;12011995;11956595;21418393;20562859;20944126;20043994;21142127;21291170;21139048;21890473;21906983;23000965;21963094;21988832;22505724 81839 Q8TAA9;Q96J52 AB057596;AB075805;ABBA01068475;ABBA01068476;ABBA01068477;AF481859;AK312087;AL450389;AMYH01000969;BC000907;BC032773;BC065272;BC082967;BM146608;BM552933;CH471122;CS185662;HH958077;NG_016548;NM_001172411;NM_001172412;NM_138959 AAH00907;AAH32773;AAH65272;AAO61751;BAB86334;BAB86362;BAG35023;CAJ42843;CBX51302;EAW56630;EAW56631;EAW56632;NP_001165882;NP_001165883;NP_620409;Q8TAA9 Hs.515130 1342047;1660085;1676898;1678667;1692312;1697374;2168971;2180673;2184741 AL033811;D1S2687;D1S3610;RH102185;RH26190;RH70098;RH99220;SHGC-75371;SHGC-75372 KITENIN;LPP2;MGC5338;STB2;STBM2 KAI1 C-terminal interacting tetraspanin;OTTHUMP00000013750;OTTHUMP00000013751;OTTHUMP00000013752;loop-tail protein 2 homolog;strabismus 2;van Gogh-like protein 1;vang-like 1 (van gogh, Drosophila);vang-like protein 1 APPROVED protein-coding ENSG00000173218 15512 18279 182940;600145;610132 REVIEWED 1346332 VARS2 valyl-tRNA synthetase 2, mitochondrial 6 6 6 p21.33 32480085 32492348 + 30989961 31002212 + 30881982 30894236 + 6480464;6907045 18400783;14702039;12477932;11572484;19851445;20041166;20503108;20877624;20186120;21890473;21906983;18624398;1898367;23449627 57176 A2ABL6;B4E0K6;B7ZCJ6;Q9UFH7 AB067472;ABBA01038067;AK000511;AK025618;AK026063;AK094483;AK125069;AK293780;AK294451;AK303415;AK304807;AK315733;AL122037;AL662854;AL669830;AL773541;AMYH01016207;BC008844;BC009355;BC063427;BC073838;BC112054;BC113605;BC143534;BC143535;BC143536;BX927194;CH471081;CR759747;CR936875;NM_001167733;NM_001167734;NM_020442 AAH08844;AAH09355;AAH73838;AAI12055;AAI13606;AAI43537;BAB15191;BAB15344;BAB67778;BAG38088;BAG57195;BAG57688;BAG64468;BAG65557;CAB59177;EAX03348;EAX03349;NP_001161205;NP_001161206;NP_065175;Q5ST30 Hs.597526 1712176;1719959;1759803;1790829;2121279;2160776;2182259;2189457;2220216;2220218;5022200;7184114 D6S1168E;D6S1898;D6S2698;D6S2821;D6S2946;G54139;L18426;MARC_6551-6552:992007295:1;RH123958;RH37251;SHGC-170046 G7a;MGC138259;MGC142165;VARS2L;VARSL OTTHUMP00000029388;valRS;valine tRNA ligase 2, mitochondrial (putative);valine--tRNA ligase;valine--tRNA ligase, mitochondrial;valyl-tRNA synthetase 2, mitochondrial (putative);valyl-tRNA synthetase 2-like;valyl-tRNA synthetase like;valyl-tRNA synthetase, mitochondrial;valyl-tRNA synthetase-like APPROVED protein-coding ENSG00000137411 21642 11670 612802 VALIDATED 737415 VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 18 18 p11.22 9903955 9950018 + 9913955 9960018 + 61779;1580863;6480464 9920726 16895911;16227268;12761501;9657962;10523508;19289470;18713837;18665321;15489334;15342556;15016871;14702039;12477932;11511104;12023275;15326295;10544080;18029348;16606821;20029029;18165232;19615732;19665998;20178991;21144830;21152411;21832049;22939629;20360068;21900206;21957124;21139048;21890473;21906983;23142642;19738201;19805454;21963094;22304920;22623428;22810585;23000965;23284291;20697350;22190034 9218 J3QKM9;Q9P0L0 ABBA01049960;ABBA01049961;AC006238;AF044670;AF057358;AF086627;AF154847;AK024299;AK096868;AK123434;AK292948;AK315577;AMYH01008806;AMYH01008807;BC002992;BC033947;BC042860;BG488667;BG719406;BP209270;BT019618;CH471113;NM_003574;NM_194434 AAC26508;AAD09742;AAD13576;AAF72105;AAH02992;AAV38424;BAF85637;BAG37951;EAX01590;EAX01591;EAX01592;NP_003565;NP_919415;Q9P0L0 Hs.165195 1676089;1681354;1734584;1771434;1851713;2136697;2161858;2162303;2162305;2164805;5022322 A006C24;A006V14;D11S2560;D18S1196;D18S940E;G20701;RH35901;RH76596;RH92706;SHGC-32407;SHGC-34906 MGC3745;VAP-33;VAP-A;VAP33;hVAP-33 33 kDa VAMP-associated protein;OTTHUMP00000162362;OTTHUMP00000162363;VAMP-A;VAMP-associated protein A;vesicle-associated membrane protein, associated protein a;vesicle-associated membrane protein-associated protein A APPROVED protein-coding ENSG00000101558 12648 09299 605703 REVIEWED 1352548 VASH1 vasohibin 1 14 14 q24.3 76298285 76319111 + 77228235 77249363 + 6480464 15467828;18029348;19498005;19179360;19057892;19037993;18325046;16707096;16488400;15649403;15489334;12508121;12477932;10737800;10470851;9110174;8619474;19204325;19587360;19682397;20035291;20133819;20736312;22675166;20167561;21302448;22865127;23100270;22569265;22564651;23056314;22101788;22438034;23591203;23324451 22846 G3V3P4;G3V4N9;Q7L8A9 AB028959;ABBA01030671;AC007376;AF055021;AF111169;AK291377;AL041425;AL832588;AMYH01005868;BC009031;BC051896;BE674799;BF741850;CH471061;NM_014909 AAD44361;AAF02829;AAH09031;AAH51896;BAA82988;BAF84066;CAD89941;EAW81259;EAW81260;NP_055724;Q7L8A9 Hs.525479 1672843;1679035;1680823;1713741;1777555;2165828 A007F19;IB403;RH120756;RH80391;RH99061;STS-AA021483 KIAA1036 OTTHUMP00000246192;vasohibin-1 protein-coding ENSG00000071246 19964 12353 609011 VALIDATED 735744 VARS valyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] 6 6 p21.3 31853274 31871691 - 31745295 31763712 - 1580863;6480464;6907045 21145461;21319273;17353931;8428657;16229838;15779907;15489334;14656967;14574404;12477932;8666263;8294461;3169261;2556394;2477242;1898367;19913121;20628086;19615732;19851445;20562859;22863883;22939629;15161933;21078624;18781797;21139048;21532573;21890473;21906983;19738201;21963094;22623428;23000965;19380743;22053931;22505724;22797925 7407 A2ABF4;B0V043;B0V044;B4DZ61;H0Y426;P26640;Q5SP20 ABBA01038086;AF134726;AK300033;AK302762;AL662834;AL662899;AL671762;AL929592;AMYH01016217;BA000025;BC012808;BX248133;CH471081;CR759787;CR759915;CR925765;CX167000;CX781162;M98326;NG_028229;NM_006295;X59303 AAA81332;AAD21819;AAH12808;BAB63303;BAG61844;BAG63973;CAA41990;EAX03523;EAX03524;NP_006286;P26640 Hs.520026 2140943;2189411 MARC_5263-5264:991939538:11;STS-AA035265 G7A;VARS1;VARS2 OTTHUMP00000029422;protein G7a;valRS;valine tRNA ligase 1, cytoplasmic;valine--tRNA ligase;valyl-tRNA synthetase;valyl-tRNA synthetase 2 APPROVED protein-coding ENSG00000204394 12651 10362 192150 REVIEWED 1602689 VASH2 vasohibin 2 1 1 1 q32.3 186345429 186386460 + 211190600 211230875 + 213123887 213164927 + 6480464 16710414;16528006;15489334;14702039;12477932;19204325;21832049;23548203;22614011;23100270;22438034 79805 B4DYZ5;C9JY36;Q86V25 ABBA01048160;AK022567;AK096605;AK290973;AK302675;AL592449;AMYH01001713;AY834202;BC028194;BC051856;BC053836;CH471100;DC350527;NM_001136474;NM_001136475;NM_024749 AAH28194;AAH51856;AAH53836;AAX39752;BAB14103;BAF83662;BAG63907;EAW93371;EAW93372;EAW93373;NP_001129946;NP_001129947;NP_079025;Q86V25 Hs.96885 1647782;1689342;2144658 L17914;RH93064;SHGC-76314 FLJ12505;RP11-275G3.1 OTTHUMP00000035013;OTTHUMP00000035017;OTTHUMP00000228345;OTTHUMP00000228346;OTTHUMP00000228347;vasohibin-2;vasohibin-like protein protein-coding ENSG00000143494 25723 08574 610471 VALIDATED 1605593 VASN vasorin 16 16 16 p13.3 4630756 4642436 + 4361850 4373530 + 4421849 4433529 + 6480464 16335952;15489334;15247411;12975309;12477932;22939629;22863883;21987572;21906983 114990 Q6EMK4 ABBA01026771;AC012676;AMYH01007103;AMYH01007104;AY166584;AY358298;AY358299;BC013767;BC068575;CH471112;NM_138440 AAH13767;AAH68575;AAO27704;AAQ88665;AAQ88666;EAW85311;NP_612449;Q6EMK4 Hs.372579 2180176 SHGC-56815 SLITL2 OTTHUMP00000159843;protein slit-like 2;slit-like 2;vasorin protein-coding ENSG00000168140 18517 10587 608843 VALIDATED 68452 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008] 20 20 q13.33 56397651 56455369 + 56964175 57026157 + 61779;1580863;5688230;6480464;7240710 9920726;15372378 15060112;17540579;16227268;16891305;19165527;18713837;18677189;18555774;18322265;17947296;17804640;17536055;17081983;16729899;16571669;16565220;15545272;15489334;14702039;12975309;12665801;12477932;12130530;11780052;10931946;10820264;10657150;12651853;22131369;20477942;16895911;17215244;18029348;18165232;19515777;19615732;20008544;20207736;20227395;20377183;20472325;18701194;16344560;20577002;8889548;16606821;17207965;20940299;20447143;21144830;22454507;22720086;22939629;22815741;19289470;23049696;20360068;21685205;21139048;21890473;21906983;22069488;21998752;20301623;22234250;22258555;19805454;22611258;22810585;23000965;23246001;23281774;23455922;21103663;22878164 9217 E5RK64;O95292;Q53XM7 AB209665;ABBA01005978;AF086628;AF086629;AF160212;AK023241;AK024771;AK025720;AK123388;AK123538;AK124571;AK127252;AK128422;AK298036;AL035455;AL118513;AL833440;AMYH01012019;AMYH01012020;AY358464;BC001712;BM968517;BT009811;CH471077;DA450527;NG_008073;NM_001195677;NM_004738;NR_036633 AAD13577;AAD13578;AAF67013;AAH01712;AAP88813;AAQ88829;ADQ31858;BAC86901;BAC87433;BAD92902;BAG51174;BAG53909;BAG60336;EAW75493;EAW75494;EAW75495;NP_001182606;NP_004729;O95292 Hs.182625 1335564;1335925;1340914;1342071;1672286;1672444;1760191;1856426;2120494;2131517;2142970;2176316;2218874;7190809 A004M26;D20S1102;D20S164;D20S171;D20S173;D20S430;RH44172;SHGC-132475;SHGC-32592;STS-AA009675;VAPB__5060;WI-16045;WI-19552 ALS8;VAMP-B;VAMP-C;VAP-B;VAP-C OTTHUMP00000031393;OTTHUMP00000174286;VAMP-B/VAMP-C;VAMP-associated 33 kDa protein;VAMP-associated protein B;VAMP-associated protein B/C;VAMP-associated protein C;VAP-B/VAP-C;vesicle-associated membrane protein, associated protein b and c;vesicle-associated membrane protein-associated protein B/C APPROVED protein-coding ENSG00000124164 12649 09300 182980;605704;608627 REVIEWED 6480816 VAV3-AS1 VAV3 antisense RNA 1 1 108507065 108537229 + 11329013 100873946 ABBA01028423;ABBA01028424;AL390036;AL391235;AMYH01000884;AMYH01000885;AMYH01000886;BG193383;CR744964;NR_046653 Hs.568676 1688586 RH92835 APPROVED miscrna ENSG00000230489 40608 VALIDATED 1314818 VAV2 vav 2 guanine nucleotide exchange factor VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] 9 9 q34.1 135616837 135847226 - 136627016 136857446 - 1580863;6480464;6484113;6907045 15618286;18829495;17686471;17234718;16381901;15850391;15489336;15479739;15345594;14702039;12810717;12477932;12454019;11909943;11606575;11516622;11448999;11390470;11313921;11262396;11080163;11076863;10982832;10938113;10618391;10022833;9115846;7762982;9269777;12577067;8621483;8986718;20598377;11756498;12376548;12376551;12787561;15848800;16397238;18654987;19451809;19826000;19911011;20140013;20463313;9438848;20808760;20298788;20140222;19322201;22939629;19531499;20940296;21810271;22554804;22946057;16273093;18067320;23382691;18271526;18729074;9399639;22750419;23033535;23033540 7410 Q6PIJ9 ABBA01021978;ABBA01021979;ABBA01021980;ABBA01021981;ABBA01021982;ABBA01021983;ABBA01021984;ABBA01021985;ABBA01021986;AJ420448;AK091622;AK123314;AK124271;AK130575;AL357934;AL445931;AL590710;AMYH01021811;AMYH01021812;AMYH01021813;AMYH01021814;AMYH01021815;AY563001;BC033187;BC043615;BC128448;BC132965;BC132967;BQ050947;BQ071939;BX640754;CH471090;NG_029725;NM_001134398;NM_003371;S76992 AAB34377;AAH33187;AAI32966;AAI32968;AAS75591;BAC85822;CAE45861;CAL37891;CAL38383;EAW88107;EAW88108;EAW88109;NP_001127870;NP_003362;P52735 Hs.369921;Hs.689325 1659438;1711212;1721215;1721297;1721891;1722171;1729823;1738297;1738319;1738325;1738327;1738333;1738339;1738345;1738349;1738353;1789595;2108989;2115282;2145094;2157140;2164294;5019865;5094172;5094224;7183838;7184634 D9S10;D9S1336;D9S1337;D9S1339;D9S1347;D9S1350;D9S1351;D9S1358;D9S1361;D9S66;G54584;G54588;G54622;G59448;G59645;G59976;G60137;GL4-1;RH47757;RH65704;SHGC-2757;SHGC-31720;SHGC-85362;VAV2_8717;WI-16717 VAV-2 OTTHUMP00000022507;OTTHUMP00000022508;OTTHUMP00000022509;Protein vav-2;VAV-2;guanine nucleotide exchange factor VAV2;oncogene VAV2;vav 2 oncogene APPROVED protein-coding ENSG00000160293 12658 02694 600428 REVIEWED 1323055 VASP vasodilator-stimulated phosphoprotein Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008] 19 19 q13.32 50702528 50722081 + 46010688 46030241 + 1580863;6480464;6484113 7828592;19463377;19115233;19081821;19059569;18923426;18845790;18832777;18813837;18680720;18569864;18559661;18278200;18217157;18064332;18029348;17938817;17914456;17684063;17488353;17351763;17167837;17082196;16531412;16336193;16197368;16189514;16046415;15939738;15642358;15634270;15592455;15569942;15489334;15469846;15469845;15178555;15158464;14706852;14679200;14592989;14557252;12805219;12695497;12665801;12652017;12576312;12571287;12566781;12492113;12477932;12397215;12372613;12220179;12087107;11756574;11598004;11313394;11093254;10990454;10922374;10882740;10851246;10801818;10747096;10637295;10438535;10087267;8812448;8182057;7925440;7737110;7644520;1319722;1318192;14506234;10892742;16055720;19435808;19690214;19798690;19825941;19885626;19902490;19943879;20044140;20110575;20589315;21158099;21041447;20624010;20826790;20695985;20802179;20945373;21163344;20822337;22863883;22939629;21423205;20618440;21814501;21874265;16940418;21139048;21827504;21890473;21906983;22014333;19542561;21398369;22320863;21702043;22210825;17599063;19380743;15148305;19060904;19738201;20195357;22212857;22623428;23000965;23402259;23436459 7408 K7EIG8;K7EM16;K7ENL7;K7ENR7;K7EQD0;P50552 ABBA01040932;ABBA01040933;ABBA01040934;ABBA01040935;AC006117;AK314812;AL556269;AMYH01009852;AMYH01009853;BC026019;BC038224;BG751094;BG825983;CH471126;NM_003370;X98534;Z46389 AAH26019;AAH38224;BAG37336;CAA67147;CAA86523;EAW57362;EAW57363;EAW57364;EAW57365;NP_003361;P50552 Hs.515469 1662489;2108985;2189545 D19S1038;UniSTS:235612;VASP_8715 vasodilator-stimulated phosphoprotein APPROVED protein-coding ENSG00000125753 12652 03415 601703 REVIEWED 1605968 VAT1L vesicle amine transport protein 1 homolog (T. californica)-like 16 16 16 q23.1 62120178 62312112 + 76379984 76571505 + 77822483 78014001 + 6480464 15489334;14702039;12477932;10997877;20889312;19844255;17207965;21832049;23000965;23535033 57687 Q8NDE0;Q9HCJ6 AB046796;ABBA01017028;ABBA01017029;ABBA01017030;ABBA01017031;AC010650;AC092134;AK001256;AK290153;AL834240;AMYH01007825;BC033537;CH471114;NM_020927 AAH33537;ADQ31788;BAB13402;BAF82842;CAD38917;EAW95594;NP_065978;Q9HCJ6 Hs.461405 1653992;1683681;1707170;1723763;1726621;1734446;1738677;1755331;1783330 D16S2793;D17S1415E;G62545;RH118617;RH64963;RH70446;SHGC-112002;SHGC-142216;SHGC-79169 KIAA1576 synaptic vesicle membrane protein VAT-1 homolog-like;vesicle amine transport protein 1 homolog-like (T. californica) protein-coding ENSG00000171724 29315 13875 PROVISIONAL 1343957 VAV3 vav 3 guanine nucleotide exchange factor This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] 1 1 p13.3 107915305 108309068 - 108113782 108507545 - 1580863;6480464;6484113;6907045 10523675;18518979;19429868;19008376;18079321;16762975;16384856;15708849;15456756;14757747;14702039;12477932;12400014;11805146;11094073;10713454;9705494;8622875;9269777;12577067;10938113;22544459;19913121;20628086;20140222;17875758;20126983;11756498;12376548;12787561;19546854;19911011;20379614;20463313;20936779;18654987;21455584;21765461;22659453;22493691;21906983;21822214;16273093;21706016;23281476;23023561;23033535;23033540 10451 E9PMJ5;F5GXH7;H0YCG7;H0YDG2;H9KV67;Q9Y5X8 ABBA01028424;ABBA01028425;ABBA01028426;ABBA01028427;ABBA01028428;AC114491;AF035442;AF067817;AF118886;AF118887;AI304566;AK097750;AK295166;AK296537;AK300474;AK304088;AK316295;AL353892;AL391235;AL513206;AL591042;AMYH01000884;BC143969;CH471156;DR002311;NM_001079874;NM_006113 AAC79695;AAD03799;AAD20348;AAD20349;AAI43970;AAI46366;AAI56727;BAG58178;BAG62191;BAG64994;BAH12381;BAH14666;EAW51251;EAW51252;NP_001073343;NP_006104;Q9UKW4 Hs.267659 1658812;1669238;1692082;1692556;1704250;1713427;1781568;1857048;2141197;2157751;5106769 AL009700;AL009945;AL033681;AL033925;D1S1574;RH119571;SHGC-145896;SHGC-75253;SHGC-75257;SHGC-83256;STS-AA009655 FLJ40431 OTTHUMP00000012665;OTTHUMP00000233732;OTTHUMP00000233734;OTTHUMP00000233737;VAV-3;guanine nucleotide exchange factor VAV3;vav 3 oncogene APPROVED protein-coding ENSG00000134215 12659 05706 605541 REVIEWED 737234 VAV1 vav 1 guanine nucleotide exchange factor This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] 19 19 p13.2 6723722 6808371 + 6772679 6857377 + 1580863;2303708;2306005;2306008;6480464;6484113;6907045 17845203;10433093;2064726 10394361;2477241;18029348;19207108;19018007;18974050;18589439;18295596;18160398;18160397;17716865;17590270;17550897;17275330;17237383;17060455;17050525;17015707;16728400;16397238;16339550;16289966;15878332;15872091;15850391;15817684;15699036;15696170;15652748;15618472;15618286;15592455;15558030;15546961;15345594;15182247;14757747;14709332;12917349;12885870;12884293;12881521;12616499;12496381;12477932;12400014;12393632;12386169;12376551;12234921;12084069;12055221;11859076;11857085;11839310;11790798;11716957;11390470;11368773;11331248;11287617;11133830;10938113;10867021;10790433;10780782;10760587;10748082;10725744;10713703;10673353;10669745;10669724;10664460;10662792;10620604;10207103;10022833;9891995;9822663;9697839;9489702;9438848;9400828;9399639;9341187;9201297;9200440;9162069;9115846;9047237;9013873;8986718;8900182;8649418;8632004;8622875;8621483;8570203;8554611;8530437;8524317;8432525;8125298;8051112;7862126;7809090;7798261;7768923;7651724;7535775;7530656;7528218;7478592;2069873;2005887;1565462;1375396;9269777;16454711;16356860;16091223;14597672;12734410;11463741;11525746;8703037;12186560;11328862;10981967;12755701;15882624;14673152;22395814;19635790;19913121;20628086;11756498;12376548;12787561;12920122;15688026;16461343;16467851;17306257;19597340;19747912;19880579;20011522;20028078;20141838;20189481;20237496;9032261;20155735;20562827;23058036;21151158;21206905;21386095;18692475;21344162;21632469;21647562;21756249;21900206;21948080;22745667;23325923;23420881;23342133;22253833;21856460;21890473;21906983;10747851;22534133;22351766;22974441;23022380;11262396;23537630;16273093;18067320;23271736;23376399;23459936;22864683;17707624;18094167;18473783;18835194;19149577;20439986;21738584;22323535;22505724;22844345;9880513 7409 B2R8B5;F5H5P4;P15498;Q96D37 ABBA01051474;ABBA01051475;ABBA01051476;AC010647;AC020895;AC020954;AC022156;AF030201;AF030202;AF030203;AF030204;AF030205;AF030206;AF030207;AF030208;AF030209;AF030210;AF030211;AF030212;AF030213;AF030214;AF030215;AF030216;AF030217;AF030218;AF030219;AF030220;AF030221;AF030222;AF030223;AF030224;AF030225;AF030226;AF030227;AF216848;AF216849;AF216850;AF216851;AK225710;AK301128;AK313307;AMYH01009379;AW105491;BC013361;CH471139;DC408645;M59834;NM_001258206;NM_001258207;NM_005428;X16316;X83931 AAA63267;AAC25011;AAH13361;BAG36112;BAG62721;CAA34383;CAA58783;EAW69057;EAW69058;NP_001245135;NP_001245136;NP_005419;P15498 Hs.116237 1688314;1732217;2190991 D19S534;MARC_12285-12286:1005663674:1;RH80857 VAV oncogene vav;proto-oncogene vav;vav 1 oncogene;vav proto-oncogene APPROVED protein-coding ENSG00000141968 12657 01284 164875 REVIEWED 6481395 VCAN-AS1 VCAN antisense RNA 1 100873929 AC026696 APPROVED miscrna 40163 1353825 VCF velocardiofacial syndrome 1360769 7413 12664 1319007 VAT1 vesicle amine transport protein 1 homolog (T. californica) Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008] 17 17 17 q21 37822892 37831323 - 38420148 38427985 - 41166622 41174459 - 1580863;6480464 19508442;19615732;7545954;8938427;15489334;14702039;12477932;8076819;7987831;7774926;7581362;21319273;20858461;22863883;22939629;17105775;20000738;21139048;21890473;21906983;22053931;22505724 10493 B0AZP7;B4DPX4;K7EJM4;K7EM19;K7ENX2;K7ER81;K7ERT7;K7ESA3;Q99536 ABBA01006393;AC055866;AC135721;AK097072;AK290460;AK298536;AK315838;AMYH01008400;BC001913;BC008725;BC014279;BC015041;BC068489;BC090858;BT007369;CH471152;L78833;NM_006373;U18009;U25779 AAA93230;AAA95990;AAC37596;AAH01913;AAH08725;AAH14279;AAH15041;AAH90858;AAP36033;ADR82767;BAF83149;BAF98729;BAG53420;BAG60736;EAW60917;EAW60918;NP_006364;Q99536 Hs.514199 1647686;2108987;2109425;2115001;2138751;2145191;2172886 A002O37;G30666;HSC1IB122;IFI35_8415;RH79132;STS-AA025690;VAT1_9121 FLJ20230;VATI membrane protein of cholinergic synaptic vesicles;synaptic vesicle membrane protein VAT-1 homolog;vesicle amine transport protein 1 homolog (t californica) APPROVED protein-coding ENSG00000108828 16919 05220 604631 VALIDATED 1351722 VAX1 ventral anterior homeobox 1 This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q26.1 112617376 112627160 - 118878022 118887802 - 118888032 118897812 - 6480464 17963489;15489334;15164054;14702039;12477932;10485894;9636075;8889548;20023658;20301552;22095910;23679094;23081944 11023 Q5SQQ9 ABBA01062950;ABBA01062951;AK127095;AL731557;AMYH01003100;AMYH01003101;BC101694;BC101696;CH471066;NG_012317;NM_001112704;NM_199131 AAI01695;AAI01697;ABZ92468;BAC86826;EAW49432;EAW49433;NP_001106175;NP_954582;Q5SQQ9 Hs.441536 2141769;2218876;5492329 SHGC-13026;VAX1__5061;Vax1 MCOPS11;MGC126743;MGC126745 OTTHUMP00000020574;OTTHUMP00000180555;ventral anterior homeobox 1 APPROVED protein-coding ENSG00000148704 12660 16052 604294;614402 REVIEWED 1349729 VCAN versican This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] 5 5 q14.3 82803339 82912737 + 82767493 82878122 + 1598495;1598496;1598497;1580863;6480464;7240710 16917090;16877430;16311904 22406535;2583089;19506372;19269971;19160015;19073385;18819099;18704747;18484070;17728259;17453002;17363913;17213182;17097211;17065588;16839865;16648628;16636652;16493581;16431924;16344560;16110303;16043844;15871917;15748997;15712181;15599946;15590670;15522894;15342556;15336555;15146197;15142969;15073129;14724283;14558097;12972299;12907688;12888576;12553048;12477932;12438652;12221092;11932252;11839575;11805102;11726670;11566024;11278559;11083865;11038354;10950950;10571340;10400671;10397680;10198161;9848887;9294172;8824283;8627343;8601689;7921538;7876137;7806529;7748141;7566098;7528742;2820964;2469524;2466833;1478664;1429726;20673868;20489207;21185131;18431253;18621549;19655167;19662655;19669783;19700613;19901218;20053631;20201926;20204274;20379614;20452482;19717812;21063030;20619446;20516156;21244575;21078678;21136024;20729814;23024773;23002209;21596823;23424670;21738396;21185747;21828051;22155153;21906983;23099107;22493503;21791066;22360420;21546273;22096483;22393310;21505857;20301747;23180826;22318369;23568740;23201264;22951719 1462 D6RGZ6;E9PF17;P13611;Q59FG9;Q6MZK8;Q86W61 AA320958;AA426499;AA478645;AB209491;ABBA01062084;AC016568;AC020921;AC026696;AF084545;AK296285;AK299770;AK307642;AMYH01015456;BC050524;BP332680;BX641036;CH471084;CN312093;D32039;DA361670;DB497892;DT217515;J02814;NG_012682;NM_001126336;NM_001164097;NM_001164098;NM_004385;S52488;U16306;U26555;X15998 AAA36437;AAA65018;AAA67565;AAB24878;AAD48545;AAH50524;AAI72276;BAA06801;BAD92728;BAH12302;BAH13124;CAA34128;CAE46022;EAW95904;EAW95905;EAW95906;EAW95907;EAW95908;EAW95909;EAW95910;EAW95911;NP_001119808;NP_001157569;NP_001157570;NP_004376;P13611 Hs.643801 1646333;1653937;1670837;1695360;1710054;1765263;1856891;2129982;2170745;5017718 CSPG2;L28255;RH17573;RH35859;RH45290;RH69411;SHGC-148767;SHGC-68433;SHGC-82303;STS-W72577 CSPG2;DKFZp686K06110;ERVR;GHAP;PG-M;WGN;WGN1 OTTHUMP00000161998;OTTHUMP00000222355;OTTHUMP00000222358;chondroitin sulfate proteoglycan 2;chondroitin sulfate proteoglycan 2 (versican);chondroitin sulfate proteoglycan core protein 2;glial hyaluronate-binding protein;large fibroblast proteoglycan;versican core protein;versican proteoglycan APPROVED protein-coding ENSG00000038427 2464 00340 118661;143200 REVIEWED 731657 VAX2 ventral anterior homeobox 2 This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008] 2 2 2 p13 70978415 71011262 + 70981228 71014084 + 71127720 71160576 + 724805;1580863;6480464 10485894 17963489;16953426;15489334;12477932;21697133;19913121;20628086;23322567 25806 F1T0K5;Q9UIW0 AB593145;ABBA01075545;AC007040;AMYH01010425;BC006336;BT007035;CH471053;NG_030009;NM_012476;Y17791 AAH06336;AAP35683;BAJ84079;CAB56166;EAW99792;NP_036608;Q9UIW0 Hs.249170 1775216;1792984 PMC17951P1;RH77957 DRES93 OTTHUMP00000160128;ventral anterior homeobox 2 APPROVED protein-coding ENSG00000116035 12661 05051 604295 REVIEWED 730988 VCAM1 vascular cell adhesion molecule 1 This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010] 1 1 p32-p31 100957885 100977189 + 101185196 101204601 + 1580349;1580350;1580351;1580352;737738;2312764;2312766;2313108;2298843;2313112;2312761;2312760;2312763;2313107;2312762;2306988;2313109;2313110;2312765;2325163;2325162;6480464;6484113;6907045;7240523;7241033;7241034;7241036;7241211;7241215;7241232;7241234;7241235;7241237;7241238;7241032;7241202;7207796;7207803;7240511;7240515;7240517;7207802;7240508;4145364;7207783;7207785;7240507;7207792 15666579;12172318;11882338;12086338;12393616;18983856;18299691;18813897;17934115;17873024;19414982;19717975;19260948;19080338;19237221;18093596;18718174;18159007;18619052;12923961;17652277;23303408;22677566;22210567;21111939;18693542;18574676;23460853;22441309;20569722;20138682;20129688;22788914;18974656;22261574;21512820;20061033;19958991;19915157;21604443;20065945;20820841;23199547;23069071;20164827;23052973 20935502;21183871;16127297;17943642;17922685;17906965;17891599;17714716;17706953;17706337;17703412;17702963;17678915;17657162;17616653;17599409;17597073;17586618;17564956;17560459;17531998;17530710;17521609;17517105;17497038;17437524;17431880;17430469;17352405;17334226;17303384;17292586;17258924;17255534;17192354;17167725;17142773;17126824;17116732;17115186;17090406;17022986;17008592;16987074;16977262;16914554;16902065;16790997;16722038;16644735;16585601;16498082;16344560;16335952;16327982;16317091;16242117;16230423;16184405;1377228;12082081;1715889;2688898;1381355;9290466;19597294;19573080;19559392;19554506;19542447;19520742;19479237;19417018;19407978;19407977;19391499;19353432;19281832;19258923;19247692;19229069;19225544;19210349;19208843;19136619;19131662;19074885;19057841;19028820;19022587;19021457;19002703;18974842;18828734;18813849;18791689;18787184;18787016;18778820;18761738;18707907;18692491;18676870;18676680;18666029;18656701;18636124;18633131;18628303;18618671;18613029;18600396;18597403;18582564;18564921;18554449;18504269;18490752;18482273;18473733;18462748;18449421;18421029;18420209;18406566;18383329;18326231;18284603;18227515;18212564;18197885;18078450;17983593;17964973;17963163;17962718;22593994;15116247;15080580;15059493;15009098;14984317;14762656;14748068;14741380;14684616;14615367;14592496;14550782;14534081;12969778;12958610;12940514;12871600;12788528;12759453;12714597;12704784;12700137;12682249;12673844;12650924;12643440;12601490;12587980;12493764;12477932;12433638;12387879;12351381;12193695;12172576;12115600;12105209;12097820;12006387;11983205;11963839;11961404;11935152;11929779;11922919;11904449;11847011;11817523;11776680;11520773;11123288;10944555;10623819;10602408;10556825;10477700;10438935;10377075;10209034;9973426;9792375;9603478;9443894;9269771;9184636;9117345;8977311;8825878;8607877;8125298;7884872;7691867;15225366;15175347;7545397;7539925;7534402;7531291;7521694;1715583;1713772;1707873;1707234;1699207;1379595;1281211;14691297;11517385;15805138;15194470;15078922;16015337;16002075;15979542;15845907;15806475;15784173;15710215;15661918;15661077;15548573;15525877;15489375;15489374;15489334;15340161;15308572;15304054;15299708;15265790;19452728;21833088;21184654;21162967;18846968;19913121;20485444;20536507;20602615;20603037;20628086;19249917;21073443;21520070;16809613;18834676;18930765;19134480;19170196;19242838;19342863;19422386;19423540;19540498;19604093;19625176;19692168;19729601;19773279;19812370;19887846;19948975;20039412;20056178;20112284;20164172;20197690;20217071;20233927;20237496;20360250;20406964;20416077;20438785;20503287;20508517;21030716;19399399;20714774;20430730;20219985;20405289;20482449;22497223;22694757;22874466;23058024;20966071;20184510;20568250;20851866;21037509;15220135;20929696;21144825;16874958;20864106;21177856;20573493;21099224;19379571;19771922;22976263;19236760;21214384;23117931;23665024;21236267;21540635;21562063;20685094;22269951;22014578;21594636;21843619;21808112;21804483;21900123;22879387;21381877;22137794;22209338;20880684;22366735;20447702;21632263;22001052;22031842;22093255;22195873;22209080;22298164;21895545;22137570;22324942;22384064;22539325;22664325;22734001;22183741;22374129;22719189;23185512;22505707;22742445;22740338;19738201;22623428;22905988;23285079;22552687;18160848;19526283;21172429;21641584;22448134;22463742;22591361;23313051;23336423;23463506;23042271 7412 E9PDD2;P19320 ABBA01045435;AC093428;AF536818;AK223266;AK291732;AK296692;AL592446;AMYH01000826;AU121762;BC017276;BC068490;BC085003;BF791565;BF968655;CH471097;CR749464;DB096825;M30257;M60335;M73255;M92431;NG_023034;NM_001078;NM_001199834;NM_080682;S50587;X53051 AAA51917;AAA61269;AAA61270;AAH17276;AAH68490;AAH85003;AAM96190;ACE86744;ACE87430;BAD96986;BAF84421;BAG59286;CAA37218;CAH18296;EAW72949;EAW72950;NP_001069;NP_001186763;NP_542413;P19320 Hs.109225 1643806;1669761;1680609;1693194;1742159;1742943;1790465;1790467;1790469;1790471;1790473;1790475;1790477;1790479;1790483;1790485;1790487;1790489;1790491;1790493;1790495;1790497;1790499;1790501;1790503;1797030;2136486;2159068 AL009440;AL010034;AL034328;GDB:192501;GDB:216806;RH39988;SGV-R135;SGV-R136;SGV-R137;SGV-R144;SGV-R165;SGV-R169;SGV-R170;SGV-R171;SGV-R173;SGV-R178;SGV-R230;SGV-R231;SGV-R232;SGV-R233;SGV-R234;SGV-R235;SGV-R236;SGV-R239;SGV-R240;SHGC-12401;VCAM1_385;WI-18941 CD106;DKFZp779G2333;INCAM-100;MGC99561 CD106 antigen;OTTHUMP00000012650;OTTHUMP00000012651;OTTHUMP00000012652;OTTHUMP00000038305;vascular cell adhesion protein 1 APPROVED protein-coding ENSG00000162692 12663 01888 192225 REVIEWED 1352433 VBP1 von Hippel-Lindau binding protein 1 The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. Because it functions as a chaperone protein, it is suspected that it may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. [provided by RefSeq, Jul 2008] X X q28 154097744 154121292 + 154444701 154468098 + 6480464 9630229;8674032;17698809;16344560;15772651;15489334;14634002;12613020;12591739;12579260;12477932;10441001;9931330;9339366;15063765;15572213;14729622;12169691;19615732;18029348;22939629;22863883;19156129;20360068;21572988;21900206;21139048;21890473;21906983;16856496;19232540;22190034 7411 F5H2A7;P61758 AA781721;ABBA01029132;ABBA01029133;AK301646;AK313420;AL356738;AMYH01023323;BC009570;BC040002;BC046094;BG575380;BT019604;BX682237;CH471172;CR541932;DA610631;NG_013269;NM_003372;U56833;U96759;Y17394 AAC23907;AAC50617;AAH46094;AAV38411;BAG36212;BAG63125;CAA76761;CAG46730;CAI41469;EAW72627;EAW72628;EAW72629;EAW72630;NP_003363;P61758 Hs.436803 1653160;1680325;1721043;1855611;2135068;2218878 G59503;RH35912;RH36657;VBP1__5062;WI-15153;WIAF-2536 PFD3;PFDN3;VBP-1 HIBBJ46;OTTHUMP00000024252;VHL binding protein-1;VHL-binding protein 1;prefoldin 3;prefoldin subunit 3;von Hippel-Lindau-binding protein 1 APPROVED protein-coding ENSG00000155959 12662 02135 300133 REVIEWED 1343537 VCX variable charge, X-linked This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] X X X p22 11985704 11987525 + 7770303 7772184 + 7810303 7812184 + 1580863;6480464 12862317;17342728;12826317;12477932;10903929;10607842 26609 J3KNW2;Q9H320 ABBA01029288;AC005296;AF159129;AF167081;AMYH01022060;BC098123;BC126903;NM_013452;XM_003960823 AAF28174;AAG41767;AAH98123;AAI26904;NP_038480;Q9H320;XP_003960872 Hs.567503 1740627;5492783 DXS8175;UniSTS:482528 MGC118975;VCX-10r;VCX-B1;VCX1;VCX10R;VCXB1 OTTHUMP00000027889;variable charge X-linked protein 1;variable charge protein on X with ten repeats;variable charge, X chromosome;variably charged protein X-B1 APPROVED protein-coding ENSG00000182583 12667 02206 300229 REVIEWED 1350692 VCX2 variable charge, X-linked 2 This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 2 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] X X X p22.32 10678570 10679663 - 8097985 8099308 - 8137985 8139308 - 6480464 15489334;12477932;11337467;10903929;10607842 51480 Q4V780;Q9H322 AC097626;AF159127;AF167079;AI015625;AMYH01022061;AU099954;BC096715;BC098101;BC098113;BC098163;BC104153;BC104167;BC104168;BC134350;NM_016378 AAF28172;AAG41765;AAH96715;AAH98101;AAH98113;AAH98163;AAI04154;AAI04168;AAI04169;AAI34351;NP_057462;Q9H322 Hs.279737 5124944 RH93694 MGC118977;MGC125729;MGC125794;MGC125795;VCX-2r;VCX2R;VCXB OTTHUMP00000022871;VCX-B;variable charge X-linked protein 2;variable charge protein on X with two repeats;variably charged X-B;variably charged protein X-B APPROVED protein-coding ENSG00000177504 18158 06749 300532 REVIEWED 1322560 VCL vinculin Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 10 10 q22.2 75427878 75549924 + 75757872 75879918 + 1580356;1580863;6480464;6484113;6907045;7240710 16236538 7816144;9700171;15501673;16130169;15494027;2116004;19422016;19148538;19052772;18554503;18513529;18353764;18056416;18028034;17932491;17709988;17591693;17088427;17081983;16949038;16826238;16712796;16608855;16407302;16189514;16097034;15988023;15883197;15728584;15547664;15489334;15229287;15164054;15070891;14702644;12719976;12665801;12477932;12473693;11741957;11724819;11693560;11577104;11541859;11409571;11358843;11113628;10908164;10882740;10545505;10521485;10320340;10224093;10085297;9885244;9054445;8994410;8612698;8610074;8609175;8440716;8276759;7994488;7682697;7566098;7534286;7525621;2503380;1505973;1339348;14597672;10330411;8922390;9858471;16169070;9405455;9535896;21319273;19913121;20502710;20628086;20634891;14627618;14630798;15163412;15231748;16385451;17082770;18341635;19883375;20474083;6457647;9415431;20086044;21076462;16803572;23077236;23383273;21525010;21763488;19952892;21486952;22863883;23627409;21171262;20360068;21841197;22493458;22586326;18781797;22235119;23159629;10320934;21139048;21890473;21906983;21963094;22309306;12765336;22613835;20301486;22391038;23679094;19738201;19805454;22053931;22623428;23000965;23466368;22940724;22939629;22017400;22709580;22797925 7414 B3KXA2;B4DTM7;P18206;Q5JQ13 AA368699;ABBA01020295;ABBA01020296;ABBA01020297;AI290052;AK126978;AK296509;AK300280;AK304823;AL596247;AL700886;AL708715;AL731576;AL832130;AMYH01002834;BC013847;BC039174;BX537994;CH471083;L04933;M33308;NG_008868;NM_003373;NM_014000;S87180;S87223 AAA61271;AAA61283;AAB21656;AAB21657;AAH39174;ABM85606;BAG54414;BAG59141;BAG62039;BAG65571;CAD97952;EAW54547;EAW54548;EAW54549;EAW54550;EAW54551;NP_003364;NP_054706;P18206 Hs.643896 1649532;1655682;1704640;1742257;2114487;2166027;2190821 D10S2142;D10S2208;D10S2342;GDB:193875;SHGC-77943;STS-M33308;VCL CMD1W;CMH15;MV;MVCL OTTHUMP00000019861;OTTHUMP00000019862;metavinculin;vinculin APPROVED protein-coding ENSG00000035403 12665 01900 193065;611407;613255 REVIEWED 1603458 VCX3B variable charge, X-linked 3B This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010] X X X p22.31 12610915 12612595 + 8392871 8394551 + 8432871 8434551 + 6480464 12477932;10903929;12862317;15008409;15888481;16470742;17342728;18076704;19812318;19734545 425054 B5MDK9;C9JS46;E7ERZ8;E7EUP4;Q9H321 AA883225;AC006062;AF167080;AMYH01022062;BC098143;CH471074;NM_001001888 AAG41766;AAH98143;EAW98743;NP_001001888;Q9H321 Hs.279737;Hs.534814 MGC119815;VCX-C;VCXC OTTHUMP00000022872;variable charge X-linked protein 3B;variably charged protein X-C APPROVED protein-coding ENSG00000205642 31838 15646 REVIEWED 1343029 VDAC1P1 voltage-dependent anion channel 1 pseudogene 1 X X X q21.1 80425069 80426846 + 80071586 80073378 + 80184923 80186706 + 6480464 10415331;10049775;8420959;7517385 642585 ABBA01049161;AF107839;AL359755;AMYH01022642;NG_001224 VDAC1P APPROVED pseudo 12671 INFERRED 2793636 VDAC1P10 voltage-dependent anion channel 1 pseudogene 10 1 1 1 q41 188773571 188775362 + 213616471 213617346 + 215549841 215551581 + 643536 ABBA01048131;AL450990;AMYH01001726;NG_013293 pseudo 37479 INFERRED 1345932 VCX3A variable charge, X-linked 3A This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] X X p22 6461659 6463159 - 6451659 6453159 - 6480464 10903929;18076704;17157254;16381901;15489336;12477932;11076863;10607842;1549475;19812318 51481 E7ESE9;Q9NNX9 ABBA01029330;AC108684;AF159128;AF167078;AJ243947;AMYH01022055;BC039722;BC098149;BC104154;BC126902;CH471074;NG_011539;NM_016379 AAF28173;AAG41764;AAH98149;AAI04155;AAI26903;CAB56197;CAL38296;EAW98750;NP_057463;Q9NNX9 Hs.170076;Hs.278906 1653348;1703028;1740323;1740325;1740327;1740627;5492783 DXS1255;DXS7728;DXS7973;DXS7974;DXS7976;DXS8175;UniSTS:482528 MGC118976;MGC125730;MGC125796;VCX-8r;VCX-A;VCX3;VCX8R;VCXA OTTHUMP00000022866;variable charge X-linked protein 3;variable charge protein on X with eight repeats;variably charged X-A;variably charged protein X-A APPROVED protein-coding ENSG00000169059 18159 18280 300533 REVIEWED 2799525 VDAC1P11 voltage-dependent anion channel 1 pseudogene 11 9 9 67490337 67492419 - 97048814 97050837 - 100310841 ABBA01017674;ABBA01017675;AL691447;AMYH01021522;NG_013294 pseudo 37480 INFERRED 6481121 VDAC1P12 voltage-dependent anion channel 1 pseudogene 12 13 34656914 34657447 - 100874289 ABBA01010164;AL160394;AMYH01005026;NG_032346 pseudo 39680 INFERRED 1347327 VDAC1P2 voltage-dependent anion channel 1 pseudogene 2 X X X p11.2 53465767 53467531 - 49284377 49284911 - 49396238 49397962 - 10049775;7517385 10064 AC142496;AC142497;AC231643;AJ012218;AMYH01022321;NG_001223 VDAC1LP APPROVED pseudo 12670 INFERRED 3398736 VDAC1P3 voltage-dependent anion channel 1 pseudogene 3 X X 91736833 91738629 - 91236803 91238513 - 6480464 7517385;8420959 100310838 AC004478;AJ002428;AMYH01022683;NG_013287 2152259;2169405 DXS8365;DXYS221 pseudo 37478 INFERRED 1349971 VDAC1P4 voltage-dependent anion channel 1 pseudogene 4 VDAC4 belongs to a family of small, abundant pore-forming proteins found in the outer mitochondrial membrane. These channels are thought to form the major pathway for movement of adenine nucleotides through the outer membrane and may also function as the mitochondrial binding site for hexokinase (see HK1; MIM 142600) and glycerol kinase (GK; MIM 300474) (Blachly-Dyson et al., 1994 [PubMed 7517385]).[supplied by OMIM, Mar 2008] 1 1 q24-q25 153510758 153512803 + 180403931 180405937 + 1580863 7517385 7418 ABBA01027794;AL445469;AMYH01001537;NG_007502;S75651 AAD14180 VDAC4;VDAC4P voltage-dependent anion channel 4 APPROVED pseudo 12675 610030 INFERRED 1344182 VDAC1P5 voltage-dependent anion channel 1 pseudogene 5 12 12 12 q13.2 54847563 54849306 - 53482680 53482952 - 55195669 55197407 - 1580863 7517385 10187 Q36731 ABBA01008377;AC117496;AMYH01004490;NG_000882;S75494 AAD14175 VDAC3;VDAC5P APPROVED pseudo 12676 INFERRED 1604797 VCPIP1 valosin containing protein (p97)/p47 complex interacting protein 1 8 8 8 q13 63535483 63572240 - 67705042 67742006 - 67542488 67579452 - 6480464 12509440;12477932;12473691;11347906;11230166;11076863;8889548;8125298;11256614;16381901;15489336;15489334;15302935;15037600;14702039;22902628;19615732;22863883;21811234;17370265;18775313;22118674;21139048;21890473;21906983;18654987;15231748;21963094;23000965;23500464;22505724;22797925 80124 Q96JH7 AB058753;ABBA01041873;ABBA01041874;ABBA01041875;ABBA01041876;AC090154;AK026785;AK225580;AK297345;AL832606;AL834476;AMYH01018773;BC012498;BC049379;BC062426;BC094799;BC118917;BM980302;CH471068;CR936659;NM_025054 AAH49379;AAH94799;BAB15552;BAB47479;BAG59796;CAD39135;CAD89944;CAL37527;CAL38641;EAW86916;NP_079330;Q96JH7 Hs.632066 1341903;1657236;2164904;2169102 D8S1785;RH45986;SGC44568;SHGC-44568 DKFZp686G038;DUBA3;FLJ23132;FLJ60694;KIAA1850;VCIP135 OTTHUMP00000226960;VCP/p47 complex-interacting 135-kDa protein;deubiquitinating protein VCIP135;valosin-containing protein (p97)/p47 complex-interacting protein p135;valosin-containing protein p97/p47 complex-interacting protein 1;valosin-containing protein p97/p47 complex-interacting protein p135 protein-coding ENSG00000175073 30897 15645 611745 VALIDATED 3398735 VDAC1P7 voltage-dependent anion channel 1 pseudogene 7 3 3 78106887 78108688 - 77365047 77366767 - 100310839 ABBA01031011;AC131005;AMYH01013295;NG_013290 pseudo 37482 INFERRED 3398734 VDAC1P8 voltage-dependent anion channel 1 pseudogene 8 6 6 144552023 144553758 + 143811645 143813334 + 100310840 ABBA01025747;AL031320;AMYH01016721;NG_013291 1796510 PEX3_1035 pseudo 37483 INFERRED 2923822 VDAC1P6 voltage-dependent anion channel 1 pseudogene 6 Y Y Y p11.2 91736833 91738629 - 5134308 5136277 - 5074408 5076119 - 12815422;9847074 359800 ABBA01069894;AC010685;NG_002825;NG_011652 2152259;2169405 DXS8365;DXYS221 pseudo 37481 INFERRED 1352139 VDAC2P1 voltage-dependent anion channel 2 pseudogene 1 21 21 21 q11.2 2636786 2638069 - 16388380 16389663 - 17466509 17467792 - 10830953;10049775 54015 ABBA01057095;AMYH01012142;AP001346;AP001666;NG_000899 VDAC2P APPROVED pseudo 12673 INFERRED 2802461 VDAC2P2 voltage-dependent anion channel 2 pseudogene 2 12 12 12 p13.31 10726237 10727474 + 9080210 9081104 + 9188920 9190119 + 10049775 643996 ABBA01012257;AC007436;AMYH01004243;NG_021271 pseudo 32693 INFERRED 2794720 VDAC1P9 voltage-dependent anion channel 1 pseudogene 9 1 1 1 q23.1 130765171 130765997 - 155960663 155961435 - 157693990 157694816 - 391106 ABBA01016637;AL356276;AMYH01001443;NG_013292 pseudo 37484 INFERRED 1344230 VDAC3P1 voltage-dependent anion channel 3 pseudogene 1 14 14 q32.2 99500619 99501638 + 100430866 100431712 + 338454;341965 ABBA01048544;AL133368;AMYH01006001;NG_022864 VDAC3P APPROVED pseudo 20722 INFERRED 1347941 VDI vesicular stomatitis virus defective interfering particle suppression 6275129 7420 12678 731621 VCP valosin containing protein The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. [provided by RefSeq, Jul 2008] 9 9 p13.3 35046560 35062564 - 35056065 35072739 - 1599735;1580863;6480464;6907045;7240710 15034582 9321476;15215856;15362974;10855792;16130169;16140914;18029348;19364651;19286132;19275885;19237541;19208399;19174149;19164805;18775313;18706391;18544453;18341608;18279508;18199748;18166610;18048502;17935506;17907600;17889967;17872946;17763460;17681147;17626287;17622780;17618707;17493577;17457594;17368566;17346713;17272822;17200190;16966435;16914519;16807242;16783167;16621797;16551632;16525503;16449189;16386250;16344560;16289116;16247064;16236267;16234241;16212419;16186510;16186509;15952740;15932873;15883021;15752563;15743842;15732117;15592455;15588985;15456787;15452376;15331598;14760088;12944474;12810701;12807884;12665801;12560433;12529442;12509440;12504083;12477932;12473691;12351637;11927012;11913976;11689694;11252708;11087817;10931946;10364224;9506515;9452483;9286697;8595912;8413590;7553851;1602151;18835813;18586029;18675248;17525332;17353931;22328510;22466964;15371428;16901789;17314412;21145461;21319273;22090097;22232657;22902628;20628086;19913121;20410307;11483959;12663780;15037256;15189447;16275660;17141156;17220478;18550891;18656546;19356220;19506019;19615732;19704082;19818707;19822669;19828315;20008565;20057067;20097236;20100830;20116073;20126661;20427671;20508983;20104022;23498974;23498975;23500464;23618873;21145000;20512113;16168377;16513638;20876349;20335036;22579784;20414249;15723043;20702414;14749733;16159877;20301649;21282470;14532270;22939629;21173115;20935584;21135095;22948820;21118995;21320982;21152665;16306228;21896481;16335966;19826004;21249466;19471022;21984748;22349865;22863883;23152587;18160415;23077236;23097496;23184937;23190606;23293021;23335559;23349634;23383273;23393163;21645854;21684747;21781992;22207755;22360420;16051665;18022694;19828134;20360068;21081666;21822278;21918864;21733848;16196087;21501964;21811234;21832065;21387114;21981919;21983102;21741246;15852347;19240031;19596686;19815544;19843543;21186355;21343306;21900206;21909394;22120668;20938780;21914798;12938929;16822850;21139048;21693764;21890473;21906983;21920633;21963094;22789697;23000505;16987818;17311810;17620599;18711132;19175675;19887378;20435896;21857022;21959292;22318606;22586326;22040362;22078486;22321369;22137929;18781797;20639865;21987572;22102026;22105171;22108332;22118674;22298039;10930447;21556036;22216170;22270372;22355145;18654987;22210628;22379090;12937274;16009940;16723740;16954204;16968747;17683050;18811591;19193609;21636303;21909096;21949850;22536440;22795130;20301623;22686199;17203973;22900631;23402259;23665563;22196955;16461343;17110338;19738201;19805454;20085233;21988832;22623428;23000965;23246001;23412975;23438482;22699758;10350210;16027165;18400946;19730691;19815549;20442859;21853274;22053931;22190034;22337587;22350894;22505724;22572540;22797925;22970133;23042605;23042607;22870330;23297223 7415 C9IZA5;C9JUP7;P55072;Q96IF9 ABBA01064998;AC004472;AF100752;AF313485;AF313486;AI343015;AK307735;AK312310;AL137377;AL353795;AMYH01019341;BC007562;BC012195;BC017171;BC096751;BC110913;BC121794;BC122550;CH471071;CQ871270;DA880782;DB524539;NG_007887;NM_007126;Z70768 AAC07984;AAD43016;AAG29873;AAG29874;AAH07562;AAI10914;AAI21795;AAI22551;BAG35235;CAA94809;CAB70717;CAH56816;EAW58403;EAW58404;NP_009057;P55072 Hs.529782 1340568;1644177;1698294;2115396;2124063;2128583;2180020;2217316 A002I21;D9S1791;FANCG_2802;RH102684;RH11835;RH15902;STS-R69121;WI-13566 ALS14;IBMPFD;MGC131997;MGC148092;MGC8560;TERA;p97 15S Mg(2+)-ATPase p97 subunit;OTTHUMP00000021326;TER ATPase;transitional endoplasmic reticulum ATPase;valosin-containing protein;yeast Cdc48p homolog APPROVED protein-coding ENSG00000165280 12666 03013 167320;601023;613954 REVIEWED 1345952 VCY variable charge, Y-linked The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.221 3154171 3154827 + 14677492 14678234 + 16097652 16098392 - 6480464 15489334;12815422;12477932;10607842;9847074;9381176;20301513;17342728 9084 O14598;Q4KN35 AC006370;AF000979;AI149997;BC096729;NG_004442;NG_032915;NM_004679 AAC51827;AAF03503;AAH96729;NP_004670;O14598 Hs.632284 1740629;2135083;5022971;5024888;5115908;5124944 DYS413;G34985;RH93694;sY1220;sY1282;sY1922 BPY1;MGC119817;VCY1;VCY1A;VCY1B OTTHUMP00000034580;OTTHUMP00000034581;basic charge, Y-linked 1;basic protein on Y chromosome, 1;testis-specific basic protein Y 1;testis-specific basic protein on Y, 1;variable charge, Y chromosome;variably charged protein Y APPROVED protein-coding ENSG00000129864 12668 02453 400012 REVIEWED 1346903 VCY1B variable charge, Y-linked 1B The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.21 3086190 3086727 - 14607046 14607782 - 16168102 16168838 + 15489334;12815422;12477932;10607842;9847074;9381176;17207965;21832049 353513 O14598 ABBA01065462;AC018677;BC056508;NG_004442;NM_181880 AAH56508;ADQ32113;NP_870996;O14598 Hs.170076 1740629;2135083;5022971;5024888;5115908;5124944 DYS413;G34985;RH93694;sY1220;sY1282;sY1922 BPY1;BPY1B;VCY;VCY1 OTTHUMP00000034580;OTTHUMP00000034581;basic charge, Y-linked 1;basic protein on Y chromosome, 1;testis-specific basic protein Y 1;testis-specific basic protein on Y, 1;variably charged protein Y APPROVED protein-coding ENSG00000129862 31751 18602 REVIEWED 733844 VDAC3 voltage-dependent anion channel 3 This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011] 8 8 p11.2 42368547 42382572 + 42249279 42263455 + 1298632;1580863;6480464;6907045 9653160 17353931;9781040;17683036;16381901;15592455;15489336;15489334;14739283;12477932;11507092;11076863;11042152;10833333;10501981;9804816;9228078;16169070;20434446;17207965;18029348;20877624;20138821;22935710;15047060;20186120;17500595;22939629;23060438;23068103;16196087;16344560;18781797;20360068;21987572;21139048;21890473;21906983;17254575;22190034;22505724 7419 E5RFL1;E5RFP6;E5RHE1;E5RHZ6;E5RJN6;E5RK27;F5H740;Q9Y277 ABBA01021155;AC107885;AF038962;AK058201;AK307224;AK308760;AMYH01018681;BC056870;BQ001504;BX643099;CH471080;DA930673;DB484671;NM_001135694;NM_005662;U90943 AAB93872;AAC39876;AAH56870;ADQ32542;CAL38200;CAL38446;EAW63217;EAW63218;EAW63219;NP_001129166;NP_005653;Q9Y277 Hs.699301 1679139;1680839;5491866 RH40477;RH79876;VDAC3 HD-VDAC3;VDAC-3 OTTHUMP00000226057;OTTHUMP00000226059;OTTHUMP00000226060;VDAC-3;hVDAC3;mitochondrial voltage dependent anion channel 3;outer mitochondrial membrane protein porin 3;voltage-dependent anion-selective channel protein 3 APPROVED protein-coding ENSG00000078668 12674 06750 610029 REVIEWED 1343221 VEGFB vascular endothelial growth factor B This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011] 11 11 q13 63758842 63762835 + 64002056 64006736 + 1625708;1580574;1580863;2298727;2314323;2313725;2314324;5490120;6480464;6907045 12547729;12230324;16633338;19369214;16816123;17975666;21487926 8919691;8637916;9684805;19424629;18930733;18757827;18564921;18537151;18511699;18317782;17082651;16839256;16616187;16570043;15489334;15009103;12652295;12477932;11122379;10409677;9751730;9365524;8702615;19913121;20501651;20628086;20673868;12366396;12881472;16109918;18259607;19275959;19483306;19910455;19948975;20223440;20228789;20308035;20452482;8889548;21636803;22172722;23350126 7423 H0YGB6;P49765;Q7LAP4 ABBA01003291;AF468110;AMYH01003703;AP001453;BC008818;BG031449;BM694361;BU730521;CH471076;CS067228;CS367408;EU332866;NG_029823;NM_001243733;NM_003377;U43368;U43369;U43370;U48801;U52819 AAA91462;AAA91463;AAA91464;AAB06274;AAC50721;AAH08818;AAL79000;AAL79001;ABM83559;ABM86796;ABM86798;ABY87555;CAI84577;CAL33849;EAW74221;EAW74222;EAW74223;NP_001230662;NP_003368;P49765 Hs.732095 1681255;1683890;1706624;1798308;2125627;2138103;2153127;2185863 G33073;RH27714;RH41986;RH79811;SHGC-82715;VEGFB_2536;WI-14122;WI-16915 VEGFL;VRF OTTHUMP00000236927;OTTHUMP00000236928;VEGF-B;VEGF-related factor;vascular endothelial growth factor B APPROVED protein-coding 12681 03237 601398 REVIEWED 1602836 VENTXP1 VENT homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] X X X p21.3 30703901 30706616 + 26486375 26489090 + 26576454 26579169 + 11549314;10790436;23319000 139538 P0C5K6 ABBA01072545;ABBA01072546;AC079178;AF164963;AMYH01022171;NR_001559 P0C5K6 Hs.447377 CT18;NA88A;VENTX2P1 APPROVED pseudo ENSG00000259849 30900 VALIDATED 1604697 VENTXP2 VENT homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the VENT homeobox gene family [provided by RefSeq, Mar 2013] 13 13 13 q31.1 65379013 65379493 + 83379337 83380017 + 84481439 84481974 - 17963489 100287345 ABBA01021740;AL355481;AMYH01005246;NG_021962 VENTX2P2 APPROVED pseudo 30901 INFERRED 1606649 VENTXP3 VENT homeobox pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 12 12 12 q21.1 74352920 74354939 + 72972260 72974494 + 74686093 74688112 + 17963489 349814 ABBA01026481;AC128678;AMYH01004586;NG_002911 VENTX2P3 APPROVED pseudo 30902 INFERRED 1606955 VENTXP4 VENT homeobox pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 p24.2 26324453 26325915 - 26362659 26364321 - 26387754 26389216 - 17963489 152101 ABBA01025008;AC098615;AMYH01013038;NG_002906 VENTX2P4 APPROVED pseudo 30903 INFERRED 732557 VDAC1 voltage-dependent anion channel 1 This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010] 5 5 q31 133335506 133368332 - 133307566 133340824 - 1580863;6480464;6907045;7240710 17500595;22841291;22939629;23060438;22616995;22164227;21890473;21906983;22159995;21139048;17353931;8420959;18063578;9843949;19049977;18832158;18755977;18607100;18568384;18381814;18362892;18308720;18250166;17828567;17336328;17254575;17209561;17081983;16585511;16565220;16236267;16201016;16185087;15952740;15644312;15637055;15635413;15630200;15592455;15489334;15372022;15302935;15033708;14702039;12767928;12736244;12698369;12663490;12477932;12243190;12118373;12087096;12009301;11845315;11602586;11181702;11091140;11039896;10978502;10772903;10737788;10661876;10639121;10620603;10501981;10365962;10049775;9874241;9644232;9119086;7685903;7539795;7525559;7517385;2559745;1657034;1602151;1373486;12079506;14647451;14573604;21319273;10922061;16344560;18690523;19094960;19595769;19668262;19669810;19717555;20098416;20117113;20132430;20192921;20230784;20237496;20347420;20434446;18614564;20937774;20846459;20435015;20877624;20404552;20890124;21148773;21281574;21281575;22990118;23068103;21720385;15047060;20186120;21442216;16196087;22397371;22435461;22586326;20360068;21081666;21900206;21987572;22117062;22315232;22325275;19847302;22389449;22589539;19738201;19805454;21963094;22304920;22926141;23000965;23182705;22190034;22505724;23161549 7416 B3KTS5;C9JI87;P21796 ABBA01068770;AC005200;AC008608;AC025177;AF151097;AJ250032;AK095989;AK122953;AK293639;AMYH01015621;BC008482;BC071168;BC090042;CH471062;DA072915;DB475162;L06132;NG_027817;NM_003374;NR_036624;NR_036625 AAA61272;AAC24723;AAD54939;AAH08482;AAH71168;AAH90042;ABM84109;ABM87491;BAG53187;BAG53816;BAG57094;CAB58127;EAW62281;EAW62282;EAW62283;EAW62284;EAW62285;EAW62286;NP_003365;P21796 Hs.519320 1335938;1658291;1848339;2121794;5019268;5020453;5124905 D17S2116;D5S1995;D5S2665;D8S1135;DXS1261;RH38718;WI-7287 MGC111064;PORIN;PORIN-31-HL;VDAC-1 OTTHUMP00000159381;OTTHUMP00000165946;OTTHUMP00000165947;VDAC-1;hVDAC1;outer mitochondrial membrane protein porin 1;plasmalemmal porin;porin 31HL;porin 31HM;voltage-dependent anion-selective channel protein 1 APPROVED protein-coding ENSG00000213585 12669 05137 604492 REVIEWED 1606058 VENTXP6 VENT homeobox pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 8 8 8 q21.11 70560804 70562160 + 74725690 74727046 + 74563245 74564176 + 552879 ABBA01041969;AC027018;AC100784;AMYH01018792;NG_005090 APPROVED pseudo 32216 INFERRED 1606061 VENTXP5 VENT homeobox pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 8 8 8 p12 32528503 32530411 - 33699346 33700138 - 33578698 33580606 - 22542470;17963489 442384 ABBA01023601;AC015779;AMYH01018634;NG_005091 5022000 D8Ulb3 APPROVED pseudo 32214 INFERRED 1352191 VENTXP7 VENT homeobox pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. [provided by RefSeq, Jul 2008] 3 3 3 p24.3 21389130 21390112 + 21422222 21423204 + 21447218 21448200 + 11549314;7518789 391518 Q14560 ABBA01025062;AC104183;AMYH01013018;NR_002311;X74864 CAA52857 Hs.543226 HPX42;VENTX1 APPROVED pseudo ENSG00000236380 13638 PROVISIONAL 731822 VDAC2 voltage-dependent anion channel 2 This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] 10 10 q22 76640569 76661212 + 76969912 76991206 + 1580863;6480464;6907045 15082785;17353931;8420959;18063578;18278581;17081983;15952740;15757910;15635413;15489334;15164054;21319273;15047060;14739283;12881569;12477932;11197169;10501981;10049775;9615439;7685033;7539795;7517385;16344560;16385451;17553172;17828567;19013129;20138821;8889548;18614564;20562859;20877624;22842492;21241999;20809416;17500595;21832049;22939629;23060438;23068103;22990118;16196087;17342744;18029348;19953087;21139048;21347391;21890473;21906983;18781797;21081666;21987572;22114330;19738201;21963094;22119777;22304920;22623428;23000965;23106098;17254575;22190034;22505724 7417 A2A3S1;B4DKM5;P45880;Q5JSD1;Q5JSD2 ABBA01020260;ABBA01020261;AF152227;AK296635;AK315919;AL390034;AL392111;AMYH01002837;BC000165;BC012883;BC072407;BE545584;BU171142;CF122447;CH471083;CR456964;DA608755;L06328;L08666;NM_001184783;NM_001184823;NM_003375;NR_033675 AAA60144;AAA60145;AAB59457;AAD40241;AAH00165;AAH12883;AAH72407;ABM81860;ABM85023;BAG59237;BAH14290;CAG33245;EAW54569;EAW54570;EAW54571;EAW54572;EAW54573;EAW54574;NP_001171712;NP_001171752;NP_003366;P45880 Hs.355927 1656105;1680491;1680695;1754185;5094072 D10S2411;G34956;RH67025;RH80786;SHGC-132209 FLJ23841;POR OTTHUMP00000019876;OTTHUMP00000019877;OTTHUMP00000019878;OTTHUMP00000019879;OTTHUMP00000019880;outer mitochondrial membrane protein porin 2;voltage-dependent anion-selective channel protein 2 APPROVED protein-coding ENSG00000165637 12672 01904 193245 REVIEWED 1626256 VEZF1P1 vascular endothelial zinc finger 1 pseudogene 1 3 3 3 q29 191296686 191300446 - 194354024 194357690 - 192871326 192875088 - 647319 ABBA01058292;AC092966;AMYH01013770;NG_006550 1682441;1784878;2131103;5015999 RH39292;SHGC-31081;Vezf1;WI-19455 VEZF1L1;ZNF161L1 APPROVED pseudo 32320 INFERRED 619561 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011] 12 12 q13.11 46521587 46585081 - 48235320 48298814 - 1331525;1580363;1580364;1580365;1580366;1624354;1580863;4889847;4889867;4889839;4889845;4889866;4889830;4889868;4889914;4889842;4889853;4889854;4889843;4889849;4889864;4889832;4889871;5147559;4889833;4889851;6480464;6907045;7240710 15118671;15899948;14597850;11359741;12588283;2849209;17703412;20124605;18712587;18231846;21103062;20231985;19622139;19929616;18397302;15295697;15282200;18266602;17236578;9761785;20008294;16713399;21664963;19255064;17224129 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179700;22213317;22213323;22213325;22213326;22213328;21803714;21820934;22008469;22641675;9831079;22290287;22311020;22331715;22497530;22529297;21752397;22278364;22300961;22323358;22494987;22511602;22535393;22537547;22729058;22856230;21948293;22537064;22878203;22884583;23035695;22306846;22877430;22785457;22917542;23044313;23073920;19074549;22434650;22529698;22920700;23054016;23070909;23128233;23167358;23189278;23259508;23392891;23482605;21887707;22946667;23111742;21963094;21988832;22762534;23053984;23281616;22612324;22947263;23185470;23349955;23519839;22181683;22595971;22490815;23334593;22564539;22677193;22035017;22116536;22546549;22551951;22801440;22842395;23150009;22365999;23341935;22672495;23065277;23070913;23506721;23129590;23198772;23277283;23450471;17254542;22772094;22960018;23046765;23246977 7421 B4DRV7;F1D8P8;F8VPF8;F8VRJ4;F8VVY8;F8VXQ9;P11473 AB002168;AB307700;ABBA01031471;ABBA01031472;ABBA01031473;AC004466;AC121338;AF026260;AK024830;AK225844;AK299446;AK312267;AMYH01004428;AY342401;AY427834;AY827087;BC033465;BC060832;BM685276;BM908433;BQ002808;BX355584;CF138099;CH471111;DA721726;HQ692836;J03258;M65208;NG_008731;NM_000376;NM_001017535;NM_001017536;X67482 AAA61273;AAA61274;AAB95155;AAH60832;AAP88938;AAR10771;AAV85448;ABZ92194;ACE86616;ACE87297;ADZ17347;BAA83389;BAG35198;BAG61419;BAH02291;CAA47824;EAW57959;EAW57960;EAW57961;EAW57962;EAW57963;NP_000367;NP_001017535;NP_001017536;P11473 Hs.524368 1653008;1744035;1755119;2162573;2218904;2218906;2218908;2218910;2218920;2218922;2218924;2218928;2218930;2218932;2218934;2218936;2218938;2218940;2218944;2218946;2218950;2218952;2218954;2218956;2218958;2218960;2218962;2218964;5017005;5022699;5094566 1b-2k;1c-12h;1c-2kb;1c-8h;1gA;1gB;1gC;GDB:384887;RH17584;SHGC-142050;VDR;VDR1d+7h;VDRU1;VDRU2;VDRU3;VDRU4;VDRU5;VDRU5-PoA;VDRU6;VDR_1a-10h;VDR_1a-5h;VDR_1ad;VDR_E1c;VDR_E2;VDR_E3;VDR_E4;VDR_E5;VDR_E6;VDR_E78;VDR_E9;WI-17447 NR1I1 1,25-dihydroxyvitamin D3 receptor;OTTHUMP00000242391;OTTHUMP00000242392;OTTHUMP00000242393;nuclear receptor subfamily 1 group I member 1;vitamin D nuclear receptor variant 1;vitamin D3 receptor;vitamin d (1,25-dihydroxyvitamin d3) receptor 1643456;2289507 BW448_H;BW74_H APPROVED protein-coding ENSG00000111424 12679 03463 166710;277440;601769 REVIEWED 1317608 VEZF1 vascular endothelial zinc finger 1 Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008] 17 17 17 q22 52510684 52527395 - 53403909 53420614 - 56048910 56065615 - 1580863;6480464 8035792;11504723;9865462;16335786;18029348;19322201;21890473;22308494 7716 J3QLN5;J3QSH4;J9JIC7;Q14119 AA195154;ABBA01041323;AC015813;AK058024;AMYH01008510;BG718897;BX648862;CH471109;D28118;NM_007146 AAI52727;BAA05663;EAW94494;EAW94495;EAW94496;EAW94497;NP_009077;Q14119 Hs.463569 1679413;1682441;1739151;1784878;2127085;2142684;2178219;2181429;5015999 A002Q40;D17S1375E;D17S1627;D17S1665;RH11817;RH39292;RH47497;SHGC-31081;Vezf1 DB1;ZNF161 putative transcription factor DB1;vascular endothelial zinc finger 1;zinc finger protein 161 APPROVED protein-coding 12949 08416 606747 VALIDATED 732214 VEGFC vascular endothelial growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family, is active in angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-3 receptors. Only the fully processed form can bind and activate VEGFR-2 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor D. [provided by RefSeq, Jul 2008] 4 4 q34.3 177841685 177950889 - 177604691 177713895 - 1580863;1334463;2298727;2315469;2315471;2315477;2315474;2315475;2315476;2315481;2315482;2315484;2315470;2315487;2315488;6480464;6484113;6907045 15563310;16633338;19923084;19885590;19382240;19608016;19589137;19500329;17257131;17094484;17034609;19911196;18704465;18424890 22466647;19280060;19276682;19152186;19151999;19141404;19117016;19084972;19066962;19041000;19002718;18974119;18924431;18798279;18773737;18717190;18679715;18652765;18630523;18627789;18614759;18609713;18564921;18561194;18538739;18512120;18509004;18440723;18295452;18292935;18261985;18245556;18205092;18192971;18190720;18061373;18057235;18035072;18006056;17970036;17935478;17931169;17926187;17686546;17676294;17641542;17640671;17465468;17409493;17393109;17353919;17230534;17216674;17203176;16964283;16944571;16924525;16879394;16874878;16816121;16755294;16584091;16570043;16525666;16525637;16525158;16474989;16467091;16465426;16322297;16299237;16116610;16049374;15943035;15880525;15870511;15756450;15668894;15623620;15590642;15489334;15484296;15340161;15272284;15240540;15173661;15151619;15040017;15009103;14966375;14760756;14744769;14676121;14568550;14534690;12963694;12915657;12819011;12792749;12594815;12477932;12471041;8617204;9684805;19420963;19351758;19347725;19347719;19302703;19299706;12469214;12452004;12388793;12213723;12168824;11999550;11920583;11877295;11332691;9247316;9233800;8700872;8653826;8612600;12810700;20651394;16375119;20654122;21159248;20450586;20723431;21448429;21411409;14558949;16044920;16530705;17222375;18250037;18399170;18953835;18983460;19024518;19275959;19291182;19304526;19462898;19629892;19648590;19671876;19701853;19717640;19779139;19825968;19828679;19910455;19934313;19956642;20137690;20145116;20179201;20215856;20223440;20237496;20379614;20452482;18307927;18826121;21302621;20672317;19107364;19821158;20825419;20819530;20336393;20429915;20864667;20119692;20021832;20827282;20522712;20584281;19913121;20628086;20628624;20673868;20608938;17536453;20448355;21199729;20878580;22082308;22326635;18476628;19771906;20120873;19781195;20734221;22552325;22804631;22179834;16344560;23536282;19099632;21279519;20107934;21330458;20429385;21482472;21520987;22537619;22574929;22938476;23149913;23065569;21698469;23574654;23879170;23424645;21910784;19813623;21374591;21839498;21680174;21600223;21666710;21821075;21269982;21676077;21732038;21972089;21986134;22049531;22057733;22199311;22502683;22008106;22366442;22023263;22206010;22335030;23054001;23059773;21804602;21069476;21264536;22292658;22496919;22649204;21999474;22174851;22696643;23137522;23327061;23111735;23410910;22817694;22833169;23147541;23383322;22906075;23158987;23225420;22607367;23317352;23350126;21767323;22336204;22967508;22626857;23059885;23336661 7424 P49767;Q6FH59 ABBA01070416;ABBA01070417;AC092673;AC093801;AF020393;AK313879;AMYH01014736;BC035212;BC063685;BF528469;CH471056;CQ858314;CR541897;CS023800;CS037003;CS067230;CS148543;CS172365;CS172813;CS367313;DA044965;FB510793;HC040685;NM_005429;U43142;U58111;X94216 AAA85214;AAB02909;AAB82540;AAH35212;AAH63685;ABM82088;ABM84271;ABM85407;ABM87665;BAG36605;CAA63907;CAG46695;CAH23418;CAI59112;CAI63838;CAI84578;CAJ29667;CAJ32890;CAJ32903;CAL32724;CAV32970;CBH30535;EAX04717;NP_005420;P49767 Hs.435215 1727865;1756527;1760347;1850334;1855456;2159949;2218136 G01971;G63349;SHGC-141922;SHGC-143559;SHGC-53939;SHGC-59791;VEGFC_3346 Flt4-L;VRP FLT4 ligand DHM;OTTHUMP00000218843;VEGF-C;vascular endothelial growth factor C;vascular endothelial growth factor-related protein APPROVED protein-coding ENSG00000150630 12682 03317 601528 REVIEWED 1354153 VENTX VENT homeobox This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008] 10 10 10 q26.3 128461096 128465122 - 134901398 134905423 + 135051408 135055433 + 1580863;6480464 12477932;11549314;10790436;21325273;17963489;20028861;20833819;20211142;21670496;22791709 27287 O95231 ABBA01006207;AF068006;AF288039;AL445199;AL592071;AMYH01003229;AMYH01003230;BC108915;BC108916;CH471211;NM_014468 AAC82375;AAI08916;AAI08917;AAK83043;ABZ92230;EAW61323;NP_055283;O95231 Hs.125231 1798310;5022578 D1S1423;VENTX2_2047 HPX42B;MGC119910;MGC119911;NA88A;VENTX2 OTTHUMP00000020791;VENT homeobox homolog;VENT-like homeobox 2;VENT-like homeobox protein 2;hemopoietic progenitor homeobox protein VENTX2;homeobox protein VENTX APPROVED protein-coding ENSG00000151650 13639 06197 607158 REVIEWED 731072 VEGFA vascular endothelial growth factor A This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically acts on endothelial cells and has various effects, including mediating increased vascular permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome, also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding either freely secreted or cell-associated isoforms, have been characterized. There is also evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with the first AUG, leading to additional isoforms. 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7422 A2A2V4;H0Y2S8;H0Y407;H0Y414;H0Y462;H0Y8N2;H0YBI8;H0YBZ0;H3BLW7;H3BLW8;J3KPA4;Q96KJ0 AB021221;AB209485;AB451322;AB451451;ABBA01050660;AF022375;AF024710;AF062645;AF091352;AF095785;AF214570;AF323587;AF430806;AF437895;AF486837;AJ010438;AK056914;AK125666;AL136131;AMYH01016316;AY047581;AY263145;AY500353;AY766116;BC011177;BC019867;BC058855;BC065522;BF700556;BM661679;BQ880667;BU153227;CH471081;CN256173;CQ858312;CS067226;CS172363;CS172373;CS367293;CS367438;CX756573;DA237741;DQ229900;HC040683;HC040693;M27281;M32977;M63978;NG_008732;NM_001025366;NM_001025367;NM_001025368;NM_001025369;NM_001025370;NM_001033756;NM_001171622;NM_001171623;NM_001171624;NM_001171625;NM_001171626;NM_001171627;NM_001171628;NM_001171629;NM_001171630;NM_001204384;NM_001204385;NM_003376;S85192;X62568 AAA35789;AAA36804;AAA36807;AAC16730;AAC63102;AAC63143;AAD04918;AAD55345;AAF19659;AAH11177;AAH65522;AAI72307;AAK95847;AAL27435;AAL27630;AAM03108;AAP86646;AAQ14857;AAV34601;ABB58912;ACE87825;ACT64542;BAA78418;BAD92722;BAG70136;BAG70265;CAA09179;CAA44447;CAH23417;CAI84576;CAJ32889;CAJ33665;CAL32723;CAL33850;CBH30534;CBH30539;EAX04227;EAX04228;EAX04229;EAX04230;EAX04231;EAX04232;EAX04233;EAX04234;EAX04235;NP_001020537;NP_001020538;NP_001020539;NP_001020540;NP_001020541;NP_001028928;NP_001165093;NP_001165094;NP_001165095;NP_001165096;NP_001165097;NP_001165098;NP_001165099;NP_001165100;NP_001165101;NP_001191313;NP_001191314;NP_003367;P15692 Hs.73793 1695882;1755927;1769920;1793678;1793680;1797032;2131773;2141234;2148351;2183188;2189763;5117572 D2Wox60;D6S2083;GDB:580706;PMC25276P1;PMC25276P2;RH16204;RH46691;SHGC-142757;SHGC-32834;SHGC-78839;STS-M32977;VEGF_1127 MGC70609;MVCD1;VEGF;VEGF-A;VPF OTTHUMP00000016487;OTTHUMP00000016488;OTTHUMP00000165985;OTTHUMP00000165986;OTTHUMP00000165987;OTTHUMP00000224107;OTTHUMP00000224108;OTTHUMP00000224109;OTTHUMP00000224153;OTTHUMP00000224154;OTTHUMP00000224423;OTTHUMP00000224424;OTTHUMP00000224425;OTTHUMP00000224426;OTTHUMP00000224427;OTTHUMP00000224428;OTTHUMP00000224429;OTTHUMP00000224430;vascular endothelial growth factor;vascular endothelial growth factor A;vascular permeability factor APPROVED protein-coding ENSG00000112715 12680 01889 192240 REVIEWED 69439 VGF VGF nerve growth factor inducible This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008] 7 7 q22.1 100592517 100595572 - 100805790 100808852 - 1580863;6480464 10381005;17440014;15706611;18432310;17684500;16481598;12477932;9344675;9084409;8125298;19598235;20164831;20631166;20471433;21621608;21151573;22808091 7425 O15240;Q05BJ3 ABBA01011348;ABBA01011349;AC004876;AK225839;AMYH01017750;AMYH01017751;BC006217;BC036537;BC044212;BC063835;CH471197;HI573992;NM_003378;Y09938;Y12661 AAD45830;AAH44212;AAH63835;CAA73210;CBX47485;EAW50201;NP_003369;O15240 Hs.587325 OTTHUMP00000211481;OTTHUMP00000211482;neuro-endocrine specific protein VGF;neurosecretory protein VGF APPROVED protein-coding ENSG00000128564 12684 03717 602186 REVIEWED 1353776 VEPH1 ventricular zone expressed PH domain-containing 1 3 3 3 q24-q25 155401211 155645090 - 158461392 158700037 - 156977531 157221415 - 6480464 15761153;14702039;12477932;11214970;19913121;20628086;11329013;16344560;20237496;20379614;21441570;15388229 79674 C9IZY4;C9J379;C9J4U8;C9JRT0;F8WBD3;F8WBQ3;Q96SP7 AB051479;ABBA01058829;ABBA01058830;ABBA01058831;AC020630;AC092944;AK022666;AK027625;AL713656;AMYH01013602;BC026235;BC042159;BC057999;BC078142;BC101660;BC111017;BC113555;BG194590;CH471052;DA887051;NM_001167911;NM_001167912;NM_001167915;NM_001167916;NM_001167917;NM_024621 AAH42159;AAH57999;AAI01661;AAI11018;AAI13556;ADR83278;BAB14165;BAB21783;BAB55243;CAD28465;EAW78705;EAW78706;EAW78707;NP_001161383;NP_001161384;NP_001161387;NP_001161388;NP_001161389;NP_078897;Q14D04 Hs.658046 1647734;1648702;1662040;1679193;1701146;1743093;1749099;1749387;1798060;2164179;2184729 G16597;GDB:252088;PTX3_470;RH104201;RH36147;RH98708;SHGC-110753;SHGC-111134;SHGC-77484;SHGC-77488;WI-7070 FLJ12604;KIAA1692;MELT;MGC111426;MGC126709;MGC142115;VEPH OTTHUMP00000213308;OTTHUMP00000213309;OTTHUMP00000213310;OTTHUMP00000213311;OTTHUMP00000213312;OTTHUMP00000213317;protein melted;ventricular zone expressed PH domain homolog 1;ventricular zone-expressed PH domain-containing protein homolog 1 APPROVED protein-coding ENSG00000197415 25735 07782 609594 VALIDATED 1602106 VEZT vezatin, adherens junctions transmembrane protein This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] 12 12 12 q22 95282459 95367461 + 94135653 94220697 + 95611522 95696566 + 6480464 16344560;16199027;14702039;12477932;12126233;11080149;8125298;21156161;21139048;21906983;19322201;21963094;23104006;23472165 55591 F2Z3A6;F8VPN9;F8VRY3;F8VS43;F8VUB7;F8VUG0;F8VVS3;F8VXA0;F8W048;F8W088;F8W0S0;F8W8C2;Q9HBM0 ABBA01053339;ABBA01053340;AC084879;AC127165;AF216644;AF225417;AF277625;AK001338;AK225303;AK225356;AK307649;AK307864;AK309943;AL133113;AL137497;AMYH01004667;BC014443;BC028597;BC040845;BC064939;BI835735;BQ023048;CH471054;DB136255;NG_028987;NM_017599;NR_038241;NR_038242 AAG09719;AAG38485;AAG38514;AAH64939;BAA91634;CAB61416;CAB70772;EAW97524;EAW97525;EAW97526;EAW97527;EAW97528;EAW97529;EAW97530;EAW97531;EAW97532;EAW97533;EAW97534;EAW97535;EAW97536;NP_060069;Q9HBM0 Hs.24135 1666417;1685674;1686414;1694650;1699036;1736288;1739811;1782520;2168771;5014063;5015861;5020948;5022200;5022651;5037552;5093174;7185938 A009I16;D10S16;D11S2921;D12S1238E;D12S1528E;D15S1390;D8S2279;G32563;G35510;G43502;L18426;RH103091;RH26488;RH65117;SHGC-104013;STS-AA001856 DKFZp761C241;VEZATIN OTTHUMP00000243135;OTTHUMP00000243143;transmembrane protein vezatin;vezatin APPROVED protein-coding ENSG00000028203 18258 11671 REVIEWED 1349598 VHLP VHL pseudogene 10475385 27444 12688 1352400 VGLL1 vestigial like 1 (Drosophila) The protein encoded by this gene binds proteins of the TEA domain family of transcription factors (TEFs) through the Vg (vestigial) homology region found in its N-terminus. It may thus function as a specific coactivator for the mammalian TEFs. [provided by RefSeq, Sep 2009] X X X q26.3 135977966 136002613 + 135441977 135466629 + 135614311 135638966 + 1580863;6480464 10518497;15772651;15489334;12477932 51442 H0Y5G3;Q5H916;Q99990 ABBA01055918;ABBA01055919;ABBA01055920;ABBA01055921;ABBA01055922;AC000115;AF137387;AI207291;AK309912;AMYH01023049;BC000045;BC003362;CH471150;NG_013270;NM_016267;Z97632 AAB46354;AAB46355;AAF13149;AAH00045;AAH03362;ABM81854;ABW03331;EAW88466;EAW88467;NP_057351;Q99990 Hs.496843 1683253;2115373;2218138 DXS9757;RH91434;VGLL1_2777 TDU;VGL1 OTTHUMP00000024123;OTTHUMP00000024124;OTTHUMP00000024125;TONDU;WUGSC:H_GS188P18.1b;transcription cofactor vestigial-like protein 1;vgl-1 APPROVED protein-coding ENSG00000102243 20985 06751 300583 REVIEWED 1323604 VGLL2 vestigial like 2 (Drosophila) This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012] 6 6 6 q22.1 118329639 118337646 + 117693414 117701421 + 117586721 117594728 + 6480464 14762206;14702039;14516696;12477932;12376544;22218741;17207965;20881960 245806 Q8N8G2 ABBA01026042;AJ578053;AK096878;AMYH01016620;AY056583;BC069316;BC100798;BC100799;BC118545;BC118622;CH471051;NM_153453;NM_182645;Z98880 AAH69316;AAI00799;AAI00800;AAI18546;AAI18623;AAI56483;AAI72539;AAL17720;ADQ32953;BAC04881;CAE17331;EAW48210;EAW48211;NP_703154;NP_872586;Q8N8G2 Hs.99324 1666697;1678609;1798312 G10032;RH92909;VGLL2_2092 VGL2;VITO1 OTTHUMP00000017081;OTTHUMP00000017082;Vestigial and Tondu related protein 1;transcription cofactor vestigial-like 2;transcription cofactor vestigial-like protein 2;vestigial-like 2;vgl-2 APPROVED protein-coding ENSG00000170162 20232 18282 609979 REVIEWED 1602804 VGLL3 vestigial like 3 (Drosophila) 3 3 3 p12.1 87739047 87793404 - 87069813 87122947 - 86987123 87040257 - 6480464 15146197;14702039;12477932;12376544;11819507;21102462;20842732;19336002;22219177;23152581;23251661;23449627 389136 A8MV65;H7C571 AA455617;ABBA01004627;AC108709;AF099505;AI379920;AK095826;AMYH01013324;BC017383;BC062478;BC094780;BX369995;BX391744;CF995043;CH471110;CN287582;CR936700;HH756203;HH792471;NM_016206 A8MV65;AAF00091;AAH94780;CBX78569;CBX87123;EAW68870;EAW68871;NP_057290 Hs.606507;Hs.744116 1669004;1695382;1698306;2121027;2121029;2137296;2169357;2169697;2173375;2173377;2179507;2181831;5493593 A004P25;A005R17;A006B39;D15S1269;G20437;G20685;RH102693;RH45063;RH69879;SHGC-68425;SHGC-77128;SHGC-77133;UniSTS:487342 DKFZp686O1845;FLJ38507;VGL-3;VGL3 OTTHUMP00000213809;OTTHUMP00000213810;colon carcinoma related protein;transcription cofactor vestigial-like protein 3;vestigial-like 3 protein-coding ENSG00000206538 24327 13431 609980 VALIDATED 7207570 VIM-AS1 VIM antisense RNA 1 10 17256245 17268897 - 100507347 ABBA01034559;AL133415;AMYH01002065;XR_109013;XR_111052;XR_171840 Hs.740502 1652393 A005E29 miscrna ENSG00000229124 44879 MODEL 1347824 VILL villin-like The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008] 3 3 3 p21.3 37969450 37983047 + 38010082 38023680 + 38035078 38048676 + 737633;1580863;6480464 12477932 9179494;18022635;18006815;16921170;15489334 50853 C9JUR8;D6R9H2;E9PFV5;H7BZ43;O15195 AB209574;ABBA01024840;AC105752;AC144536;AK309304;AL702875;AMYH01013088;BC000243;BC004300;CH471055;D88154;NM_015873 AAH00243;AAH04300;ABM83469;ABM86680;BAA21668;BAD92811;EAW64506;NP_056957;O15195 Hs.103665 1337551;1706160;1712526;2159839;2191415;7185231;7186258 AU047556;D3S1298;MARC_21622-21623:1033069530:1;SHGC-76834;SHGC-80604 OTTHUMP00000161384;villin-like protein APPROVED protein-coding ENSG00000136059 30906 18283 REVIEWED 6482766 VIMP1 vimentin pseudogene 1 6 q22.32 126923501 126924797 - 100130535 ABBA01025941;AL359535;AL450347;AMYH01016651;NG_022326 1716169 RH121107 pseudo 43891 INFERRED 1603820 VHLL von Hippel-Lindau tumor suppressor-like Von Hippel-Lindau (VHL) tumor suppressor protein is a component of an E3 ubiquitin ligase complex that selectively ubiquitinates the alpha subunit of the hypoxia-inducible factor (HIF) transcription factor for proteasome-mediated degradation. Inactivation of VHL causes VHL disease and sporadic kidney cancer. This gene encodes a VHL homolog that lacks one of two key domains necessary for VHL function. This gene may contribute to the regulation of oxygen homeostasis and neovascularization during placenta development. This gene is intronless, and can also be interpreted as a retrotransposed pseudogene of the VHL locus located on chromosome 3. However, the protein is represented in this RefSeq due to evidence in PMID:14757845 that strongly suggests it is translated. The same publication also indicates that this protein binds HIF alpha but fails to recruit the E3 ubiquitin ligase complex, and it therefore functions as a dominant-negative VHL protein and a protector of HIF alpha. [provided by RefSeq, Jan 2010] 1 1 1 q22 129341390 129342403 - 154535039 154535714 - 156268415 156269428 - 14757845;10475385;7566098;12477932 391104 Q6RSH7 AA324790;ABBA01016664;AL589685;AMYH01001437;AY494836;BC130596;BC130598;NG_012639;NM_001004319 AAI30597;AAI30599;AAS48916;NP_001004319;Q6RSH7 Hs.532378 VHLP;VLP VHL pseudogene;VHL-like protein;von Hippel-Lindau-like protein APPROVED protein-coding ENSG00000189030 30666 15648 REVIEWED 737311 VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] 3 3 p25.3 10158319 10168762 + 10183319 10195354 + 1580368;1580369;1580371;1358257;1559297;1580561;2325176;2325181;2325183;625549;2325022;2325190;2325169;6480464;6483358;6484113;6907133;6907045;7240710 16210343;15932632;12500216;15611513;15601820;15063765;9488521;20125055;19399409;11880179;19065635;20302395;19690016;19364912;22035299 20871634;19223516;21258414;21436690;22105711;22156657;22351759;22393103;22516261;22532874;7660122;12169691;7660130;17973242;10353251;7604013;19525194;19464396;19464057;19458911;19401348;19399650;19351817;19343621;19340311;19336759;19336503;19305426;19288063;19280651;19258401;19252526;19238077;19228690;19216840;19215943;19208735;19158274;19145771;19073886;19064569;19062180;19061835;19056930;19030229;19029228;19018165;18998488;18985005;18836774;18806787;18780286;18751980;18751708;18694926;18685280;18676741;18635227;18607865;18559510;18551016;18517280;18474617;18446368;18426857;18424433;18423895;18416845;18408496;18389622;18359287;18285459;18245539;17264095;17255293;17245122;17200123;17102080;17101696;17069461;17060462;17006605;16983094;16951198;16892044;16884327;16856496;16849532;16769276;16768548;16707008;16678111;16669786;16506218;16503656;16407835;16314641;16278378;16261165;16208141;16170373;16144691;16142346;16107702;15998523;15985433;15962286;15921386;15893810;15849821;15824735;15824109;15809750;15805242;15777842;15750626;15696489;15611064;15608669;15607616;15604095;15572213;15530850;15467305;15448019;15300849;15162797;15122713;14985465;14963040;14767570;14729622;14726398;14722919;14691554;14667507;14636579;14604959;14556007;14531799;14517280;14506252;13985160;13679920;12937142;12912922;12844285;12839965;12821933;12810083;12781449;12767066;12743597;12697815;12692265;12684640;12682336;12682018;12673678;12644949;12640117;12609565;12538644;12511881;12510195;12490973;12482756;12477932;12468553;12460920;12415268;18223282;18212329;18162774;18094722;18085246;18079682;18073334;18072267;17998064;17997830;17967880;17954272;17936701;17919893;17912253;17906660;17898043;17846357;17825299;17786294;17696210;17688370;17680521;17661816;17639058;17568584;17555795;17526729;17486080;17450132;17438007;17407064;17296901;12414898;12393546;12378530;12374282;12351678;12209156;12114495;12114475;12097293;12086860;12050673;12048197;12036906;12032852;12016154;12004076;12000816;11990703;11987242;11986208;11921283;11908068;11865075;11840338;11749004;11739384;11709017;11641274;11517223;11504942;11483638;11384984;11292862;10973499;10944113;10850420;10823831;10635329;10627136;10535940;10533030;10523847;10449727;10408776;10364675;10205047;9880225;9829912;9829911;9751722;9671762;9663592;9651579;9399847;9271438;9156047;9122164;8956040;8931697;8863170;8825918;8765323;8733131;8730290;8700833;8674032;8634692;8592333;8550742;8522307;8493574;8270255;8183553;8069849;7987327;7987306;7829101;7759077;7728151;7690964;7566098;7563486;1673491;18305400;17981124;17973296;18173839;17353931;10587522;15721254;22642103;22673568;22718905;23255108;20447124;21151099;14973063;16234850;16511565;17047048;17350623;17439941;17558023;17986458;18950731;19133167;19159641;19408298;19419968;19574279;19584355;19602254;19620968;19629420;19649731;19759417;19764026;19801654;19806577;19808854;19825962;19906784;19915015;19915370;19933033;19940550;20068166;20137853;20145706;20185829;20205103;20208144;20431476;20453000;19162062;20567917;20978319;20300531;20375333;20855504;15966899;10318914;10491320;11226425;11358837;11779168;15084514;15935760;17698809;21145461;20382342;22438210;20599784;16325183;16611863;19913121;20382408;20628086;20651059;19814753;20973793;12056827;14600153;14691445;20301636;20680678;20844582;20964835;20978146;10421634;21362373;21658608;10878807;11292861;11331613;21528828;12464182;12604794;12606543;12808024;12925778;18264140;20637892;20980436;21042786;21685785;19411751;11865071;11566883;21299348;21233420;19706539;22906772;23074928;22931246;21204227;21358672;21386872;11574546;17344222;20560986;20639871;21386990;20952286;21642472;21632985;17132228;21715564;23063455;23455924;11545595;21832049;22799452;19940151;21876117;22006925;21335603;21942715;15060148;20049704;20724477;21332579;21791076;21888897;21602888;21625219;21798997;18775313;21463266;21547579;21763962;17244529;21139048;21890473;22125026;22234250;22284679;22286099;21606165;23151618;23159849;23217559;23395608;21415706;21949687;22022277;21993671;22071692;22150821;22084938;21556796;21725364;21972040;22086907;22357542;11024059;12086861;12205091;12586829;15082527;16140212;17339318;17922844;18187417;18222538;19322201;19695223;21493813;21685897;22020339;22270996;22585604;9341197;9447969;21778301;22286234;22389506;22462637;22673518;20301715;23079206;19147576;23580587;23612971;15231748;18323857;20802534;21602890;23393199;23401859;23224817;23318261;23338840;23298237;22806541;17828303;19123984;20863722;22649212;22714833;22932900;22948661 7428 B4E1V7;P40337 AA361862;ABBA01020389;AC034193;AF010238;AF088066;AK304002;AK309560;AK315799;AMYH01012969;AW022843;BC027957;BC058831;BG284971;BG288777;BG914051;BM564781;BX100230;CH471055;D58014;HI574030;HI574032;L15409;NG_008212;NM_000551;NM_198156;U54612;X96489 AAA98614;AAB64200;AAH27957;AAH58831;BAG38142;BAG64919;CAA65343;CBX47504;CBX47505;EAW64064;EAW64065;EAW64066;EAW64067;EAW64068;NP_000542;NP_937799;P40337 Hs.517792 1674494;1743135;1743613;1743615;1743617;1743619;1743621;1743895;1744557;1744559;1744561;1744563;1744565;1774601;2146842;2184369;2184443;2219752;5015404;5015961;5016478;5016596;5016700;5017215;5020414;5020946;5022200;5022578;5022588;5117897 D15S1477;D1S1423;D5S1597E;GDB:270439;GDB:361137;GDB:361141;GDB:361144;GDB:361147;GDB:361151;GDB:375126;GDB:434012;GDB:532940;GDB:532945;GDB:532951;GDB:532957;GDB:532965;GDB:631802;GDB:631813;L17688;L17705;L17971;L18426;RH16642;RH71303;RH79802;SHGC-31692;SHGC-33879;SHGC-57727;STS-L15409;VHL__5065 HRCA1;RCA1;VHL1;pVHL OTTHUMP00000158850;OTTHUMP00000158851;elongin binding protein;pVHL;protein G7;von Hippel-Lindau disease tumor suppressor;von hippel-lindau syndrome homolog APPROVED protein-coding 12687 01905 144700;171300;193300;263400;608537 REVIEWED 1323223 VGLL4 vestigial like 4 (Drosophila) 3 3 3 p25.3 11532949 11697489 - 11572544 11737037 - 11597544 11762220 - 1580863;6480464 19240061;16344560;15489334;15140898;14702039;12477932;8590280;20379614;20702774;21079607;21839727;18029348;19322201;21044950;22094256;23319000 9686 C9JBN2;C9JX59;E7EQU6;E7ERW0;E7EUJ2;E7EWF5;F8W708;F8WBN7;G5E9F4;G5E9M7;G5E9M9;J3KN68;Q14135 ABBA01025216;ABBA01025217;AC022001;AC090939;AK126479;AK130542;AK300344;AK307708;AK308761;AMYH01012978;AMYH01012979;BC000763;BC001514;BC003038;CH471055;D50911;DA301780;DA321008;DA386938;DA525713;NM_001128219;NM_001128220;NM_001128221;NM_014667 AAH01514;AAH03038;ACE86422;ACE87097;BAA09470;BAC85375;BAG62089;EAW64098;EAW64099;EAW64100;EAW64101;EAW64102;EAW64103;EAW64104;EAW64105;EAW64106;NP_001121691;NP_001121692;NP_001121693;NP_055482;Q14135 Hs.740389 1335445;1340089;1644359;1656942;1686640;1757349;1852170;2129515;2134684;2164110;2178262 D3S3680;D3S3714;D3S3828;RH15949;RH25345;RH36277;RH48202;SHGC-144750;SHGC-76706;SHGC-76714;SHGC-76717 KIAA0121;VGL-4 OTTHUMP00000160156;OTTHUMP00000207604;OTTHUMP00000207651;OTTHUMP00000207654;OTTHUMP00000209401;OTTHUMP00000209402;OTTHUMP00000209403;Vestigial-like 4;transcription cofactor vestigial-like protein 4 protein-coding ENSG00000144560 28966 11672 VALIDATED 1316011 VIL1 villin 1 This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008] 2 2 q35 218996722 219022489 + 219283838 219314248 + 1580863;6480464 17353931;2846586;18029348;19371634;18307996;18054784;17847007;17182858;16189514;15576363;15342783;15342556;15272027;12937273;12477932;12445810;11500485;8125298;6893424;3793760;3510866;3453110;2892781;1961750;17537734;19377296;14594952;16921170;17229814;17606613;19808673;21741320;21623163;23383273;22530999 7429 B4DV78;C9J2B5;H7C0B6;P09327;Q53F91;Q96AC8 A07400;A14103;ABBA01023868;AC021016;AC073838;AK223398;AK300965;AK313709;AMYH01011496;BC017303;BP329402;CH471063;CS223375;NM_007127;X04657;X12901 AAH17303;AAY14886;BAD97118;BAG36454;BAG62590;CAA00664;CAA01148;CAA28355;CAA31386;CAJ46927;EAW70619;EAW70620;NP_009058;P09327 Hs.654595 1744585;2108991;2173833 D2S2722;GDB:542905;VIL1_8718 D2S1471;VIL OTTHUMP00000164145;OTTHUMP00000207159;villin-1 APPROVED protein-coding 12690 01898 193040 REVIEWED 6481353 VIPR1-AS1 VIPR1 antisense RNA 1 100874007 AC092047 APPROVED miscrna 40610 1352794 VIS1 viral integration site 1 1682866 7435 U56440 12696 164755 1601754 VIMP VCP-interacting membrane protein This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies suggest that this protein may regulate cytokine production, and thus play a key role in the control of the inflammatory response. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 15 15 q26.3 99628737 99635223 - 101811214 101817700 - 6480464;7240710 16751776;15063746;15215856;17210132;17374524;19336475;19144102;18974842;18728048;18710632;18675776;18625033;18068137;18029348;17880573;17661913;17641917;16574427;16227999;16186510;16186509;15489334;15161744;14702039;12775843;12663463;12477932;12031974;10931946;8889548;8125298;7829101;18199748;20619427;17872946;19398551;19948975;20114070;20378690;16289116;21052528;21832065;21456042;21906983;19164805;22700979;22505724 55829 E9PJB8;E9PN30;E9PQ66;Q6GYA4;Q9BQE4 AA487772;ABBA01020524;AC023024;AF157317;AF328864;AI673590;AK026455;AK097011;AK225955;AK314723;AMYH01006975;AY324824;AY618665;BC005840;BC107774;BG829960;BI494034;BQ014190;BU740863;CH471101;DQ578816;NG_013322;NM_018445;NM_203472 AAF67483;AAH05840;AAI07775;AAK15708;AAP85541;AAT46592;EAX02295;NP_060915;NP_982298;Q9BQE4 Hs.32148 1654841;1696974;5106027 RH101959;RH46969;SHGC-146438 AD-015;ADO15;MGC104346;MGC2553;SBBI8;SELS;SEPS1 OTTHUMP00000232899;OTTHUMP00000232904;OTTHUMP00000232905;OTTHUMP00000232906;VCP-interacting membrane protein;selenoprotein S APPROVED protein-coding ENSG00000131871 30396 12133 607918 REVIEWED 1348931 VIP vasoactive intestinal peptide The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008] 6 6 q25 153113626 153122593 + 153071932 153080900 + 1580863;5685613;5685623;5685605;5685615;5685620;5685622;5685624;5685634;5685386;5685387;5685379;4889998;5685380;5685382;5685606;5685612;5685617;5685619;5685602;5685608;4145303;5685374;5685381;5685388;5685375;5685610;5685376;5685601;6480464 19037032;20442436;19661153;18928861;16782752;21129425;19792856;20369387;20978211;20340024;21693218;19232006;21666233;21281617;19476518;19055696;18158987;22143367;19906107;19467283;20441697;22140628;21419198;20309012;22059987;19222997;21998117;15808913 10096039;4035357;8389448;19470168;19272598;19258923;19143025;19136032;19086053;18682798;18663606;18441300;18383383;18351280;18234640;17885205;17804556;17703412;17683807;17466601;17448763;17430175;17430171;17275031;17175032;17003842;16965837;16893891;16728406;16713569;16697281;16226889;16189514;15489334;15247290;15169929;15155712;15093699;15009665;14574404;12754213;12670727;12477932;12409228;12225791;12220738;11884208;11713978;11027527;10801840;9454823;9313778;8146174;6571696;6139527;3899557;3748844;3654650;3202886;3025882;2995945;2987932;2839091;2434617;1863695;1318039;807467;10527688;10933622;10446313;1617429;11278902;22914463;21167238;18240029;19239625;19508420;19712974;19950799;20007697;20072116;20180986;20237496;20379146;20398908;20503287;12036966;20675276;22555304;20554694;17207965;20529207;20691743;20692311;17087112;19685709;21426768;21969302;9603988;22207455;16344560;8889548;22140573;22108610;22995328;23168411;22959974;23220033;22728770 7432 H0Y763;P01282 ABBA01025616;AK291959;AK313950;AL133356;AMYH01016749;BC009794;BM971673;CH471051;DA914915;L00157;L00158;M11553;M11554;M14623;M32162;M33027;M36610;M36634;M54930;NM_003381;NM_194435 AAA61284;AAA61285;AAA61286;AAA61287;AAA61288;AAA61289;AAA63268;AAA69515;AAH09794;ADQ32372;BAF84648;EAW47724;EAW47725;NP_003372;NP_919416;P01282 Hs.53973 1655905;2110033;5014927 RH46694;RH69136;VIP_8719 MGC13587;PHM27 OTTHUMP00000017450;OTTHUMP00000017451;OTTHUMP00000017452;VIP peptides;prepro-VIP APPROVED protein-coding ENSG00000146469 12693 15950 192320 REVIEWED 735637 VIPR1 vasoactive intestinal peptide receptor 1 This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] 3 3 p22 42519121 42554064 + 42530791 42579065 + 1580863;5685626;6480464;5685622;5685618 19309439;21129425;17611633 7708752;22291440;8179610;8390245;8389448;19598235;19086053;18668120;18663606;18597186;18383379;18351280;18174366;18000164;17885205;17883247;17651798;17077178;16934434;16888207;16888206;16888167;16888162;16554109;16552823;16520374;16344560;16037943;15932876;15670850;15451021;15247290;15171718;14702039;14599709;12690118;12477932;12446722;12429744;12225791;12133828;12094871;12050216;11981043;11930171;11859928;11859927;11834941;11812772;11812005;11160313;11072126;11027527;10867004;9973484;9928020;9927997;8889548;8886855;8639654;7917790;7818527;807467;15452121;18240029;20014941;20424473;18577758;20706588;20026142;20922191;12036966;20691743;21711977;18029348;21769421;21896307;22166542;22763881 7433 B4DNY6;C9JDT8;C9JH33;F2Z2U6;Q6P2M6 AB065669;ABBA01024768;AC092047;AK056819;AK123943;AK126759;AK293548;AK294609;AK298115;AK314334;AMYH01013113;AMYH01013114;BC064424;BU681817;CH471055;DA200439;EF577396;FB659868;L13288;L20295;NG_030371;NM_001251882;NM_001251883;NM_001251884;NM_001251885;NM_004624;U11079;U11080;U11081;U11082;U11083;U11084;U11085;U11086;U11087;X75299 AAA36802;AAA36805;AAB60362;AAH64424;ABQ52416;BAC05895;BAG36980;BAG51813;BAG57026;BAG57795;BAG60398;CAA53046;CAS01788;EAW64649;EAW64650;EAW64651;EAW64652;NP_001238811;NP_001238812;NP_001238813;NP_001238814;NP_004615;P32241 Hs.348500 1708574;1721219;1733828;1797034;2119878;2124329;5094705;5117278 D3S1497;G59451;GDB:455353;MARC_17029-17030:1023294211:1;RH68684;SHGC-76862;SHGC-85073;VIPR1_387 FLJ41949;HVR1;II;PACAP-R-2;PACAP-R2;RDC1;V1RG;VAPC1;VIP-R-1;VIPR;VIRG;VPAC1;VPAC1R;VPCAP1R OTTHUMP00000162603;OTTHUMP00000209290;PACAP type II receptor;PACAP-R2;VIP and PACAP receptor 1;VIP receptor, type I;VIP-R-1;pituitary adenylate cyclase activating polypeptide receptor, type II;pituitary adenylate cyclase-activating polypeptide type II receptor;vasoactive intestinal polypeptide receptor 1 APPROVED protein-coding ENSG00000114812 12694 01890 192321 REVIEWED 1604423 VKORC1P1 VKORC1 pseudogene 1 X X X p22.11 32010235 32011065 + 27791832 27792824 + 27881949 27882779 + 414355 ABBA01072680;AC112492;AMYH01022177;NG_004115 pseudo 33182 INFERRED 1351893 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010] 14 14 14 q24.3-q31 57931580 57962552 - 76962771 76993657 - 77893018 77923983 - 6480464;7240710 19109425;16189514;15592455;15489334;15345747;14702039;12508121;12477932;8125298;16344560;8889549;20578233;20190753;23002115;22939629;19805454;22677173;22753090;21145461 63894 B4DMB7;G3V4K3;G3V549;Q6IA61;Q9H9C1 AA010625;ABBA01030647;ABBA01030648;AF111168;AK022769;AK022925;AK024661;AK098254;AK222706;AK297388;AK298354;AMYH01005882;AW629161;BC015054;CH471061;CR457294;DA794284;NG_023421;NM_001193314;NM_001193315;NM_001193316;NM_001193317;NM_022067 AAD09624;AAH15054;BAB14237;BAB14310;BAB14951;BAD96426;BAG53601;BAG59829;BAG60598;CAG33575;EAW81286;EAW81287;EAW81288;EAW81289;EAW81290;NP_001180243;NP_001180244;NP_001180245;NP_001180246;NP_071350;Q9H9C1 Hs.16157 1650850;1680290;1695004;2123500;2145874 G35725;G35916;G44715;RH11279;RH77763 C14orf133;FLJ12707;SPE-39;SPE39;VIPAR;VPS16B;hSPE-39 OTTHUMP00000246365;OTTHUMP00000246366;OTTHUMP00000246367;OTTHUMP00000246368;OTTHUMP00000246369;SPE-39 protein;VPS33B interacting protein, apical-basolateral polarity regulator;VPS33B-interacting protein;VPS33B-interacting protein in apical-basolateral polarity regulator;VPS33B-interacting protein in polarity and apical restriction;VPS33B-interacting protein involved in polarity and apical protein restriction;protein spe-39 homolog;spermatogenesis-defective protein 39 homolog APPROVED protein-coding ENSG00000151445 20347 10710 613401;613404 REVIEWED 1351062 VIPR2 vasoactive intestinal peptide receptor 2 This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011] 7 7 q36.3 158513627 158630410 - 158820866 158937649 - 1580863;5685384;6480464 21295288 8757618;7811244;19470168;19269029;19086053;18383383;17883247;17257640;17077178;16934434;16888203;16572459;16552823;16500728;15489334;15302876;15090046;12690205;12477932;12150135;11728828;11351046;11193874;11160313;11072126;10801840;10764955;10481065;9629281;9541464;9454823;8938447;8933357;8146174;7733904;18240029;19851296;20072116;20180986;20198315;20379146;20026142;20395540;18577758;22886412;12036966;20554694;20691743;21832049;21769421;21721910;21711977;21346763;15123239;22961270;23406873;22763881 7434 C9JCP7;E9PCR5;P41587;Q6ZN22 AACC02000073;ABBA01032299;ABBA01032300;ABBA01032301;AC004863;AC007269;AF027390;AK131406;AK308955;AK310386;AMYH01018215;AMYH01018216;BC010569;BT007118;CA449700;CH236954;CH471149;L36566;L40764;NM_003382;U18810;X95097;Y18423 AAC09171;AAC37569;AAC41756;AAC50872;AAH10569;AAP35782;ABM84658;ABM92188;BAD18553;CAA64474;CAB41899;EAL23936;EAL23937;EAX04596;NP_003373;P41587 Hs.585052 1689765;1786364;2134104;2138324;5014051;5037552 D7S427;D7S749;D8S2278;D8S2279;RH93213;SHGC-171691 C16DUPq36.3;DUP7q36.3;FLJ16511;PACAP-R-3;PACAP-R3;SCZD16;VIP-R-2;VPAC2;VPAC2R;VPCAP2R OTTHUMP00000200015;OTTHUMP00000200016;OTTHUMP00000200017;PACAP type III receptor;PACAP-R-3;PACAP-R3;VIP and PACAP receptor 2;VIP-R-2;helodermin-preferring VIP receptor;pituitary adenylate cyclase-activating polypeptide type III receptor;vasoactive intestinal polypeptide receptor 2 APPROVED protein-coding ENSG00000106018 12695 03576 601970 VALIDATED 1604422 VKORC1P2 VKORC1 pseudogene 2 1 1 1 p32 56979103 56979699 - 58466556 58467375 - 58694077 58694673 - 414357 ABBA01074662;AL357373;AMYH01000651;NG_004116 pseudo 33183 INFERRED 1353199 VIT vitrin 2 2 2 p22.2 36764899 36882980 + 36777418 36895433 + 36923833 37041937 + 6480464 14702039;12975309;12477932;12388743;10830112;9847074;12766061;15489334;20379614 5212 B5MD45;C9J6F5;H7C587;Q9UDN0 ABBA01074966;ABBA01074967;ABBA01074968;AC007363;AF063833;AK056772;AK292149;AK299426;AL832679;AMYH01010254;AY358338;BC061519;BC128260;CD679226;CH471053;NM_001177969;NM_001177970;NM_001177971;NM_001177972;NM_053276 AAF19243;AAH61519;AAI28261;AAL18263;AAQ88704;BAB71279;BAF84838;BAG61406;EAX00416;EAX00417;EAX00418;EAX00419;NP_001171440;NP_001171441;NP_001171442;NP_001171443;NP_444506;Q6UXI7 Hs.137415 1340706;1670266;1722547;1781828;1854160;2150951 D6S1558;G60201;RH45772;RH68949;SHGC-172307;SHGC-57668 DKFZp313L1517;MGC149746;MGC70561 OTTHUMP00000201298;OTTHUMP00000201299;OTTHUMP00000201300;OTTHUMP00000214286;OTTHUMP00000214317;vitrin protein-coding ENSG00000205221 12697 18284 VALIDATED 1344797 VMD1 vitelliform macular dystrophy, atypical 7240710 7438 12702 733128 VIM vimentin This gene encodes a member of the intermediate filament family. Intermediate filamentents, along with microtubules and actin microfilaments, make up the cytoskeleton. The protein encoded by this gene is responsible for maintaining cell shape, integrity of the cytoplasm, and stabilizing cytoskeletal interactions. It is also involved in the immune response, and controls the transport of low-density lipoprotein (LDL)-derived cholesterol from a lysosome to the site of esterification. It functions as an organizer of a number of critical proteins involved in attachment, migration, and cell signaling. Mutations in this gene causes a dominant, pulverulent cataract.[provided by RefSeq, Jun 2009] 10 10 p13 17311304 17319598 + 17270258 17279592 + 1580863;6480531;6480447;6480471;6480440;6480443;6480618;6480476;6480477;6480511;6480527;1304397;6480519;6480622;6480508;6480446;6480617;6480626;6480480;6480464;6480538;7240710 8833197;16418842;10225952;19199359;18687349;21362765;3780056;6352937;21250919;15527750;12834255;19728994;21958862;21792832;17306450;21938407;15684657;7516431;22199233 21199468;20121168;20471030;11895474;11802775;11744725;11514563;11441066;11423904;11243787;11172097;11082283;10887173;10852918;10852826;10613270;10469173;9565595;9261168;9190204;9188594;9175763;8523563;8125298;7983050;7925640;7644499;3792301;3661560;3467175;3371665;3027087;2806127;2472876;2323579;2251132;1918147;1722806;1478967;8822624;8381971;7842474;10491200;1516138;2203542;10845700;8997639;8424456;2201025;2059552;1991513;1812754;1726101;11160829;16169070;11278417;14600259;12099690;16189514;12639940;15383276;11375989;12358155;11889032;11827972;16130169;9150946;19476621;19422834;19403668;19331162;19252475;19168853;19165527;19126778;19117942;19013628;18985821;18977241;18790770;18695932;18681838;18653473;18632620;18464297;18407667;18241054;18219106;18176708;18155753;18046501;17960581;17719575;17703067;17663720;17652163;17601350;17585878;17476115;17403663;17289402;17083913;17081983;17056548;17050693;17031402;16964243;16912072;16901892;16703512;16568083;16565220;16487365;16365157;16298568;16270034;15846844;15777792;15592455;15556930;15489334;15456890;15255035;15231822;15164054;14996095;14762106;14760703;14702039;14595690;12906105;12829607;12761892;12750294;12727854;12706117;12600646;12483219;12477932;12466525;12429849;12366696;12210485;12194205;12169273;12084347;12003790;11911279;21346197;22307379;22740688;22869704;22236966;22535769;21508377;10625659;11581269;12226091;12441134;15345747;15527767;16510139;16769727;17373842;18029348;18184460;19270731;19366731;19386766;19404921;19447876;19528485;19617759;19695088;19696622;19776392;19806221;19888472;19915524;19937731;20104255;20109457;20171211;20350213;20468064;2500966;20651380;20856200;20176112;20602472;20729920;18947333;20609218;20447406;16159877;16226712;21187483;20588206;20701774;20358301;22476851;19690979;20169076;21094801;21057535;20422486;21448168;15047060;16944923;20618440;21875946;20975101;21317457;22766839;21217813;20585571;21327330;20516061;22759266;23135265;20797700;22863883;23482564;18160415;22886823;23084401;23106098;23184937;23383273;21515330;15161933;15324660;15604093;19765186;21803859;21203488;21664858;21746880;21442485;22730818;19596686;21900206;21914078;17881773;21491466;22216242;22340393;17620599;22266860;20639865;21465480;21987572;22022619;22178446;12202484;23280360;22659602;12244133;23576498;23824909;20972266;21139048;21803052;21890473;21906983;16236267;22395512;22251609;22367194;16009940;17361185;20473970;21699783;22315367;22407449;23072594;23224145;23239149;23292832;21145461;21319273;22221700;16289162;17400507;17266347;18985028;19738201;21963094;21988832;22304920;22623428;22751105;22944692;23000965;23357686;23455922;23504025;23049725;22584948;22684479;23056278;23398456;21832049;22345628;22879973;22939629;22704062;16712842;19655254;19826009;21769486;21853274;22053931;22505724;22763828;22797925;22971934;22929228;23354842;18811945 7431 B0YJC4;B0YJC5;Q5JVS8;Q8N850 ABBA01034559;AF328728;AK056766;AK091813;AK093924;AK097336;AK098444;AK222482;AK222507;AK222602;AK290643;AL133415;AMYH01002065;BC000163;BC030573;BC031031;BC066956;BQ050765;CH471072;CR407690;EF445046;M14144;M18895;M25246;NG_012413;NM_003380;X16478;X56134;Z19554 AAA61279;AAA61281;AAA61282;AAH00163;AAH30573;AAH66956;AAN09720;ACA06100;ACA06101;ACA06102;ACA06103;BAB71275;BAC05002;BAD96202;BAD96227;BAD96322;BAF83332;BAG52420;CAA34499;CAA39600;CAA79613;CAG28618;EAW86215;EAW86216;NP_003371;P08670 Hs.455493;Hs.691131 1742259;1790305;1798314;2128051;5111937 G43223;GDB:193876;RH11024;VIM;VIM_2538 CTRCT30;FLJ36605 OTTHUMP00000019224;OTTHUMP00000019225;vimentin APPROVED protein-coding ENSG00000026025 12692 01899 116300;193060 REVIEWED 1606370 VMAC vimentin-type intermediate filament associated coiled-coil protein 19 19 19 p13.3 5843814 5849226 + 5855894 5861263 + 5904852 5910263 + 6480464 16344560;14985129;12477932 400673 Q2NL98 ABBA01055983;AC104532;AK124162;AMYH01009367;BC110802;CH471139;DA541168;NM_001017921 AAI10803;BAG54017;EAW69129;EAW69130;NP_001017921;Q2NL98 Hs.620821 MGC131658 vimentin-type IF-associated coiled-coil protein;vimentin-type intermediate filament-associated coiled-coil protein protein-coding 33803 18623 VALIDATED 1604306 VKORC1 vitamin K epoxide reductase complex, subunit 1 Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 16 16 p11.2 31009676 31013777 - 31102175 31106276 - 2315841;6480464;7240710 19884975 22528326;22534826;22496424;22571356;19436136;19387626;19376320;19324988;19320825;19319511;19300499;19297219;19233910;19225451;19207028;19181737;19177029;19172700;19139476;19135231;19124480;19117406;19099951;19077919;19074728;19056482;19034590;16676068;16634640;16611750;16611310;16580898;16549638;16513444;16432637;16424822;16420583;16270630;16270629;16201835;16141794;16030016;15978113;15972850;15947090;15930419;15888487;15883587;15790782;15716279;15630486;15489334;15358623;15276181;14765195;14765194;12975309;12477932;12384421;11154138;19025725;19018719;19018718;18950464;18855533;18848323;18841283;18826394;18813101;18805772;18781852;18754001;18698879;18690342;18680736;18680536;18629445;18574025;18559094;18542936;18535201;18532998;18523153;18516070;18480003;18466315;18466099;18449434;18370846;18322281;18305455;18281915;18252229;18240904;18218987;18183038;18034619;18034618;18030307;17995970;17989110;17961434;17899045;17883699;17883698;17849045;17764537;17721328;17666014;17653141;17596133;17549303;17510308;17413769;17391071;17329985;17325732;17301738;17192772;17189218;17164330;17111199;17110455;17049586;17048007;17031720;17015052;16890578;16879214;16847429;16815313;16700826;16677080;20621035;20978134;20163834;20569971;20831047;20833655;20833980;20842355;20854800;20860466;20885015;20930419;20946155;21044367;21057703;21063236;20696932;20359285;19530970;19538716;19545555;19567378;19578179;19652895;19663669;19738376;19745563;19780415;19781295;19794411;19842934;19874474;19875892;19941044;19942260;19948975;19958090;20020283;20043560;20072124;20073138;20075209;20121287;20149073;20193673;20203262;20204461;20210733;20226775;20228265;20339191;20339978;20354686;20376629;20381283;20386359;20421126;20434758;20442691;20459419;20488169;20499136;20504253;20532885;20553802;20555338;20575749;20579077;20581661;20585445;20585834;20597268;20602615;20615525;20637959;20653674;20653676;20709439;20716240;20733952;20811787;22394334;22808915;21176721;21103663;21248432;21127708;22871975;22915323;22349464;22533669;22952875;21179214;21179439;21110192;21544933;21639946;21362126;22990118;21638223;21800014;21725053;21883387;22023024;21148049;21766908;22198820;22452429;22075505;22855348;22864379;22923610;23159639;23285254;23455922;21562135;21651319;21767890;22010099;22130800;22130532;22393834;22188360;22290467;21939388;22252093;22409277;23154637;22173503;23039877;22854539;23065265;23113310;23018470;21215088;22592842;23124848 79001 A8MV79;F2Z3Q2;F8W9H0;H0YF24;I3L1P9;Q9BQB6 ABBA01042077;AC135050;AF176924;AK125618;AK129513;AK289790;AK312005;AMYH01007503;AY423044;AY466113;AY521634;AY587020;BC000828;BC002911;BI822140;CD249837;CH471192;CS811288;NG_011564;NM_024006;NM_206824 AAH02911;AAQ13668;AAR28759;AAR82914;AAS01052;AAS83106;ADZ15766;BAC86222;BAF82479;BAG34943;CAP58832;EAW52165;EAW52166;EAW52167;EAW52168;NP_076869;NP_996560;Q9BQB6 Hs.324844 1338621;1340651;1687367;1687902;5020948;5109281;5117897 D16S3131;D16S419;D1S1425;G35510;GDB:631813;RH64898;RH69900 EDTP308;FLJ00289;IMAGE3455200;MGC2694;MST134;MST576;VKCFD2;VKOR OTTHUMP00000045061;OTTHUMP00000045062;OTTHUMP00000045063;OTTHUMP00000045064;phylloquinone epoxide reductase;vitamin K dependent clotting factors deficiency 2;vitamin K epoxide reductase complex subunit 1;vitamin K1 2,3-epoxide reductase subunit 1;vitamin K1 epoxide reductase (warfarin-sensitive) APPROVED protein-coding ENSG00000167397 23663 10540 122700;607473;608547 REVIEWED 2923010 VN1R100P vomeronasal 1 receptor 100 pseudogene 19 19 q13.41 49816773 49817205 + 52767219 52767651 + 19952141 100312846 ABBA01068260;AC010320;AMYH01009954;NG_015704 pseudo 37420 INFERRED 3184214 VN1R101P vomeronasal 1 receptor 101 pseudogene 19 19 q13.42 58617883 58618884 + 53926071 53926937 + 19952141 729885 ABBA01068215;AC022137;AMYH01009959;NG_013420 pseudo 37424 INFERRED 2923009 VN1R102P vomeronasal 1 receptor 102 pseudogene 19 19 q13.42 51007652 51007837 - 53966222 53966407 - 19952141 100312847 ABBA01068215;AC022137;AMYH01009959;NG_015705 pseudo 37425 INFERRED 3129704 VN1R103P vomeronasal 1 receptor 103 pseudogene 19 19 19 q13.42 51048103 51048969 + 58693503 58699751 + 54006666 54007532 + 19952141 730066 ABBA01068214;AC022137;AMYH01009960;NG_013421 pseudo 37426 INFERRED 2974686 VN1R104P vomeronasal 1 receptor 104 pseudogene 19 19 q13.42 51872424 51873341 - 54831506 54832423 - 19952141 100288195 ABBA01068167;AC008984;AMYH01009976;CU104682;CU457734;CU467018;NG_014074 1815690;1817220;1840716;2042722;2042724;2042726;2042728;2042730;2042732;2042734;2042736;2042738;2042740;2042742;2042744;2103856;2103858 ECD08883;ECD09660;ECD21549;REN92407;REN92408;REN92409;REN92410;REN92411;REN92412;REN92413;REN92414;REN92415;REN92416;REN92417;REN92418;stSG605969;stSG605971 pseudo 37427 INFERRED 2946935 VN1R105P vomeronasal 1 receptor 105 pseudogene 19 19 q13.42 52199500 52200454 + 55159360 55160314 + 19952141 100288264 ABBA01068150;AC009892;AMYH01009976;CU024913;CU459007;CU467612;NG_014075 1824410;1825740;2045228;2045230;2045232;2045234;2045236;2045238;2045240;2045242;2045244;2045246;2045248;2045250;2045252;2104154;2104156 ECD13303;ECD13978;REN93686;REN93687;REN93688;REN93689;REN93690;REN93691;REN93692;REN93693;REN93694;REN93695;REN93696;REN93697;REN93698;stSG606218;stSG606219 pseudo 37428 INFERRED 2923008 VN1R106P vomeronasal 1 receptor 106 pseudogene 19 19 q13.42 53261237 53261518 + 56218943 56219224 + 19952141;11181995 100312848 Q9BZ77 ABBA01020859;AC008749;AC010525;AMYH01010007;CH471135;NG_015706 EAW72410 FKSG41 hypothetical protein LOC100132178;uncharacterized protein LOC100132178 pseudo 37429 INFERRED 2922961 VN1R107P vomeronasal 1 receptor 107 pseudogene 19 19 q13.43 55014990 55015199 + 57971279 57971488 + 19952141 100312849 ABBA01020808;AC004076;AMYH01010028;NG_015707 pseudo 37431 INFERRED 2922959 VN1R108P vomeronasal 1 receptor 108 pseudogene 20 20 p11.1 25788480 25789365 + 25714865 25715750 + 19952141 100312850 ABBA01048714;AL390198;AMYH01011789;NG_015708 pseudo 37432 INFERRED 731420 VMP1 vacuole membrane protein 1 17 17 17 q23.1 54248613 54381467 + 55139811 55273235 + 57784863 57917954 + 6480464 11256614;18550798;18384814;17940279;17724469;16381901;15489336;15466293;12477932;22535956;11785947;11230166;11076863;20299819;19019082;21173155;22971212;21467264;19322201;19850743;22144109;21906983;22333543;23118302;23316280;19056683 81671 B4DED7;B4DGZ7;B4DVV9;F5H2J3;K7EK01;K7EL46;K7EL74;K7EL93;K7ELS2;K7EM96;K7EMI0;K7EMN6;K7ENU2;K7EPE7;Q96GC9 AB047551;ABBA01003172;ABBA01003173;ABBA01003174;ABBA01003175;ABBA01003176;ABBA01003177;AC004686;AC025858;AC040904;AC091271;AF161410;AF214006;AK024969;AK025987;AK293578;AK293664;AK294854;AK301254;AL136711;AMYH01008526;AX775965;BC009758;BC024020;CH471109;CR533521;DC428792;NM_030938 AAF28970;AAH09758;AAL36461;ABM83495;BAF47368;BAG57048;BAG57110;BAG57958;BAG62821;CAB66646;CAE11682;CAG38552;CAL38428;CAL38503;EAW94390;EAW94391;EAW94392;EAW94393;NP_112200;Q96GC9 Hs.444569;Hs.708260 1650041;1675367;1691716;1691772;1693434;1693442;2131691;2135943 G42203;G42241;G42376;G42384;RH46129;RH48465;RH91780;SHGC-64257 DKFZp566I133;EPG3;TANGO5;TMEM49 ectopic P-granules autophagy protein 3 homolog;transmembrane protein 49;transport and golgi organization 5 homolog;vacuole membrane protein 1 APPROVED protein-coding ENSG00000062716 29559 15649 611753 VALIDATED 2922956 VN1R109P vomeronasal 1 receptor 109 pseudogene 21 q11.2 14463937 14464410 - 19952141 100312851 AJ239321;AMYH01012130;NG_015709 pseudo 37434 INFERRED 2923052 VN1R110P vomeronasal 1 receptor 110 pseudogene X X p11.23 53170202 53171134 - 48494616 48495547 + 19952141 100312803 ABBA01046035;AC115618;AMYH01022290;NG_015661 pseudo 37438 INFERRED 2922955 VN1R111P vomeronasal 1 receptor 111 pseudogene 19952141 100312852 ABBA01048751;AL356585;NG_015710 pseudo 37332 INFERRED 2922953 VN1R112P vomeronasal 1 receptor 112 pseudogene 19952141 100312854 ABBA01157355;AL592188;AMYH01024696;NG_015712 pseudo 37437 INFERRED 1342547 VN1R11P vomeronasal 1 receptor 11 pseudogene 6 6 p21 28656712 28657636 + 27051071 27051995 + 19952141 387317 ABBA01037986;AL021807;AMYH01016186;NG_015637 VNR6I2P;dJ86C11.7;hs6V1-2p pseudo 13551 INFERRED 1604972 VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012] X X X q28 150814162 150826340 + 150316363 150328494 + 150565657 150577836 + 6480464;7240710 20616343;16381901;15977643;15489336;14702039;12477932;11076863;10757644;2892402;10805342;16344560;19379689;22939629;19322201;21139048 203547 Q3ZAQ7 ABBA01037219;AF003627;AF086459;AK025798;AK091301;AK096835;AL833596;AMYH01023221;BC103701;BC103702;BC105693;BC105694;BC110800;CH471169;DA224893;NG_016761;NM_001017980 AAI03702;AAI03703;AAI05694;AAI05695;AAI10801;BAG53371;CAL37544;EAW99403;EAW99404;NP_001017980;Q3ZAQ7 Hs.58633 1687774;1701794;1701914;5015619;5024039;5037552;5109281 D11S3114;D16S325;D1S1425;D8S2279;DXS7076;DXS963E;RH93612 MEAX;MGC125514;MGC125516;MGC131652;XMEA OTTHUMP00000025870;myopathy with excessive autophagy protein;vacuolar ATPase assembly integral membrane protein VMA21 APPROVED protein-coding ENSG00000160131 22082 18578 REVIEWED 1348597 VN1R12P vomeronasal 1 receptor 12 pseudogene 6 6 p21 28606785 28607782 - 27001125 27002122 - 19952141 387321 ABBA01037986;AL590062;AMYH01016186;NG_015635 VNR6I3P;bA373D17.2;hs6V1-3p pseudo 18722 INFERRED 1348260 VN1R14P vomeronasal 1 receptor 14 pseudogene 6 6 p22-p21 27860618 27861269 - 26631313 26631964 - 19952141 387320 ABBA01066560;AL513548;AMYH01016163;NG_015634 VNR6I5P;bA457M11.4;hs6M1-5p pseudo 18721 INFERRED 1348444 VN1R13P vomeronasal 1 receptor 13 pseudogene 6 6 p21 28633799 28634696 - 27028149 27029046 - 19952141 387322 ABBA01037986;AL590062;AMYH01016186;NG_015636 VNR6I4P;bA373D17.3;hs6V1-4p pseudo 18723 INFERRED 733926 VLDLR very low density lipoprotein receptor The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009] 9 9 p24 2611793 2644485 + 2621793 2654485 + 1580813;737740;1625573;1625579;1625568;1625577;1625575;1625570;737739;1358346;1580863;1358468;2317973;2324668;2324671;6480464;6484113;7240710 15979629;11342683;8636110;8603509;11557677;9507207;15878964;10985956;7550352;12893944;12764038;15820235;9186864;11786096 18326629;10380922;8083232;15082773;19393635;19015224;18685438;18364738;18277139;18056683;18043714;18039658;18032585;17936586;17890782;17854420;17472347;16384981;16080122;15953542;15950998;15950758;15863833;15164053;15064754;14702039;12857919;12824284;12477932;12363388;12169628;12167620;11931574;11266465;10629142;10571241;10571240;10391209;9630508;9132912;8294473;8128315;8069294;8020981;7828550;7797576;7592875;12899622;12670700;10827173;9555943;17330141;19224153;19913121;20624392;20628086;21642441;21047397;22973972;20427281;21987572;21734303;23185271;21601501;22109552;22189190;22419519;22780124;22876580;21757650;22005931;21890473;22170052;20301729;22355348;21063833;21963094;23000965;22532556 7436 P98155;Q5VVF5;Q5VVF8;Q8NAN7 AA758887;AB208822;ABBA01065439;AK092381;AK095744;AK289527;AL450467;AMYH01019193;BC136562;BC142653;BC144245;CH471071;D16493;D16494;D16532;DQ067198;L20470;L22431;NG_012741;NM_001018056;NM_003383;S73849 AAA53684;AAA61344;AAB31735;AAI36563;AAI42654;AAI44246;AAY46157;BAA03945;BAA03946;BAA03969;BAC03874;BAD92059;BAF82216;BAG53118;EAW58804;EAW58805;EAW58806;EAW58807;EAW58808;NP_001018066;NP_003374;P98155 Hs.370422 1745669;1745671;1757951;1774144;1787120;2152525;2153630;2159923;2164329;2170290;2171167;2171382;5093444;5093558;5491860 A009P01;A009Q38;G32721;G32789;GDB:631759;GDB:631760;RH16191;RH17486;SHGC-12535;SHGC-146930;SHGC-155211;SHGC-34403;SHGC-34405;VLDLR;WI-18746 CARMQ1;CHRMQ1;FLJ35024;VLDLRCH OTTHUMP00000020982;OTTHUMP00000020983;OTTHUMP00000020984;VLDL receptor;VLDL-R;very low-density lipoprotein receptor 1643245 BW137_H APPROVED protein-coding ENSG00000147852 12698 01895 192977;224050 REVIEWED 2923050 VN1R15P vomeronasal 1 receptor 15 pseudogene 1 1 q42.13 201038750 201039313 + 227846868 227847431 + 19952141 100312804 ABBA01009609;AL592310;AMYH01001783;NG_015662 1686250;1698152 RH102609;RH80566 pseudo 37327 INFERRED 2923055 VN1R16P vomeronasal 1 receptor 16 pseudogene 1 1 q44 220639744 220640658 + 247343351 247344265 + 19952141 100312805 ABBA01031782;AL390728;AMYH01001910;NG_015663 2131716 D1S3136 pseudo 37330 INFERRED 2923013 VN1R19P vomeronasal 1 receptor 19 pseudogene 2 2 q21.2 126586216 126586631 + 132866163 132866578 + 19952141 100312843 ABBA01028224;AC098826;AMYH01011105;NG_015701 pseudo 37328 INFERRED 1605251 VMO1 vitelline membrane outer layer 1 homolog (chicken) 17 17 17 p13.2 4703786 4704935 - 4635320 4636473 - 4688580 4689729 - 6480464 15489334;15340161;12975309;12477932;22025569 284013 Q7Z5L0 ABBA01054775;AC109333;AC233723;AF521892;AMYH01008042;AY359099;BC038467;BC104194;BC104195;BI836994;CD367284;CD367473;CH471108;NM_001144939;NM_001144940;NM_001144941;NM_182566 AAH38467;AAI04195;AAI04196;AAP80865;AAQ89457;EAW90410;EAW90411;NP_001138411;NP_001138412;NP_001138413;NP_872372;Q7Z5L0 Hs.122561 5493647 UniSTS:490057 ERGA6350;MGC125880;MGC125881;PRO21055 vitelline membrane outer layer protein 1 homolog protein-coding ENSG00000182853 30387 17333 VALIDATED 2946911 VN1R20P vomeronasal 1 receptor 20 pseudogene 3 3 p25.1 13906666 13907565 + 13968358 13969257 + 19952141 100312775 ABBA01025163;AC069462;AMYH01012996;NG_015633 pseudo 37335 INFERRED 3378732 VN1R17P vomeronasal 1 receptor 17 pseudogene 1 1 1 q44 220696893 220697519 - 245467149 245467775 - 247400526 247401152 - 12044878;16620963;19952141 441931 Q8TDU5 AB083605;ABBA01031783;AC104335;AMYH01001910;NG_011997 BAB89318;Q8TDU5 GPCR pseudo 37331 INFERRED 3254955 VN1R18P vomeronasal 1 receptor 18 pseudogene 2 2 2 p16.3 48056559 48057495 + 48070268 48071169 + 48216764 48217700 + 19952141 100133087 ABBA01075182;AC092650;AMYH01010333;NG_014058 pseudo 37334 INFERRED 2923012 VN1R22P vomeronasal 1 receptor 22 pseudogene 4 4 q25 105355717 105356115 + 108056814 108057212 + 19952141 100312844 ABBA01063748;AMYH01014450;AP001819;NG_015702 pseudo 37337 INFERRED 2946903 VN1R24P vomeronasal 1 receptor 24 pseudogene 7 7 p11.2 67675033 67675291 - 56568578 56568836 - 19952141 100312781 ABBA01061872;AC092447;AMYH01017285;NG_015639 pseudo 37344 INFERRED 2946908 VN1R25P vomeronasal 1 receptor 25 pseudogene 7 7 p11.2 67733225 67734136 + 56626806 56627717 + 19952141 100312782 ABBA01061873;AC092447;AMYH01017285;NG_015640 pseudo 37345 INFERRED 1353419 VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 7 7 7 q11.21 66693876 66775381 - 64975692 65057237 + 65338257 65419800 + 1580863;6480464 17207965;17996924;15489334;14765194;14702039;12477932;21367861;20379614;21103663;23284715;21139048;21890473;19322201;21963094;23291589 154807 E7ETM5;Q8N0U8 ABBA01049011;ABBA01049012;ABBA01049013;ABBA01049014;ABBA01049015;AC073261;AC093485;AC093582;AK000750;AK001747;AK055860;AK124688;AK289522;AK304077;AL137548;AMYH01017483;AY423045;BC007465;BC014249;BC027734;BX647631;CH471140;CR627471;NM_173517 AAH27734;AAR82915;ADQ32268;BAF82211;BAG64984;CAH10673;EAX07952;NP_775788;Q8N0U8 Hs.427232 1341340;1676704;1677000;1680276;1682634;1686832;1687179;5015881;5015961;5016478;5017170;5022463;5022578;5024761;5037552;7188006 D15S1477;D1S1423;D3S1673;D7S2549;D8S2279;GDB:335751;GDB:434012;L29953;RH36905;RH40696;RH47576;RH69342;RH69426;RH92824;RH93933 DKFZp762H0113 OTTHUMP00000159822;VKORC1-like protein 1;vitamin K epoxide reductase complex subunit 1-like protein 1 protein-coding 21492 12312 608838 VALIDATED 3497434 VN1R21P vomeronasal 1 receptor 21 pseudogene 3 3 3 p25.1 14068860 14069665 - 14105898 14106461 - 14130553 14131358 - 19952141 100128368 ABBA01025161;AC090004;AMYH01012996;NG_014048 pseudo 37336 INFERRED 2946902 VN1R27P vomeronasal 1 receptor 27 pseudogene 7 7 p11.2 55947628 55948001 - 57227866 57228239 - 19952141 100312784 ABBA01028298;AC099654;AMYH01017334;NG_015642 pseudo 37347 INFERRED 2946899 VN1R28P vomeronasal 1 receptor 28 pseudogene 7 7 p11.2 56207055 56207973 - 57482489 57483407 - 19952141 100312785 ABBA01028302;AC073057;AC237221;AMYH01017334;NG_015643 pseudo 37348 INFERRED 2923011 VN1R23P vomeronasal 1 receptor 23 pseudogene 4 4 q25 105357050 105357345 - 108058147 108058446 - 19952141 100312845 ABBA01063748;AMYH01014450;AP001819;NG_015703 pseudo 37338 INFERRED 2946904 VN1R26P vomeronasal 1 receptor 26 pseudogene 7 7 p11.2 67855244 67855756 - 56748838 56749350 - 19952141 100312783 ABBA01061874;AC095038;AMYH01017287;NG_015641 pseudo 37346 INFERRED 2946901 VN1R29P vomeronasal 1 receptor 29 pseudogene 7 7 p11.2 56260912 56261782 + 57536328 57537198 + 19952141 100312786 ABBA01028304;AC092175;AMYH01017334;NG_015644 pseudo 37349 INFERRED 3028785 VN1R30P vomeronasal 1 receptor 30 pseudogene 7 7 q11.21 59672985 59673877 - 62806218 62807110 + 19952141 100287919 ABBA01018529;AC006455;NG_014072 pseudo 37350 INFERRED 2946900 VN1R31P vomeronasal 1 receptor 31 pseudogene 7 7 q11.21 59651533 59652375 + 62827703 62828545 - 19952141 100312787 ABBA01018529;AC073188;AMYH01017379;NG_015645 pseudo 37351 INFERRED 2946898 VN1R32P vomeronasal 1 receptor 32 pseudogene 7 7 q11.21 59641451 59642367 - 62837711 62838627 + 19952141 100312788 ABBA01018529;AC073188;AMYH01017379;NG_015646 pseudo 37352 INFERRED 3254956 VN1R34P vomeronasal 1 receptor 34 pseudogene 7 7 7 q11.21 57113678 57114545 - 63032335 63032852 - 63394842 63395709 - 19952141 100129587 ABBA01027968;AC092634;AMYH01017427;NG_014051 pseudo 37354 INFERRED 3003944 VN1R33P vomeronasal 1 receptor 33 pseudogene 7 7 q11.21 59672985 59673877 - 62861757 62862649 - 19952141 100288022 ABBA01018529;AC073188;AMYH01017381;NG_015943 pseudo 37353 INFERRED 2946896 VN1R35P vomeronasal 1 receptor 35 pseudogene 7 7 q11.21 57142645 57143306 - 63423809 63424470 - 19952141 100312789 ABBA01027969;AC092634;AMYH01017427;NG_015647 pseudo 37355 INFERRED 2946897 VN1R36P vomeronasal 1 receptor 36 pseudogene 7 7 q11.21 57144992 57145362 - 63426156 63426526 - 19952141 100312790 ABBA01027969;AC092634;AMYH01017427;NG_015648 1753125 SHGC-68733 pseudo 37356 INFERRED 2946895 VN1R39P vomeronasal 1 receptor 39 pseudogene 7 7 q11.21 57453586 57454037 + 63733916 63734367 + 19952141 100312791 ABBA01027976;AC073270;AMYH01017428;NG_015649 pseudo 37359 INFERRED 2881180 VN1R38P vomeronasal 1 receptor 38 pseudogene 7 7 7 q11.21 57359453 57360379 - 63277801 63278630 - 63640366 63641294 - 19952141 100131065 ABBA01027974;AC091685;AMYH01017427;NG_014053 pseudo 37358 INFERRED 2837778 VN1R37P vomeronasal 1 receptor 37 pseudogene 7 7 7 q11.21 57329113 57330023 - 63247432 63273098 - 63609997 63610907 - 19952141 402273 ABBA01027974;AC091685;AMYH01017427;NG_013382 1339523;1644798;7187810 D7S2530;GDB:3754411 pseudo 37357 INFERRED 2946894 VN1R40P vomeronasal 1 receptor 40 pseudogene 7 7 q11.21 57623905 57624821 - 63904138 63905054 - 19952141 100312792 ABBA01027977;AC022202;AMYH01017429;NG_015650 pseudo 37360 INFERRED 2946891 VN1R41P vomeronasal 1 receptor 41 pseudogene 7 7 q11.21 57655704 57656309 + 63935935 63936540 + 19952141 100312793 ABBA01027977;AC022202;AMYH01017429;NG_015651 pseudo 37361 INFERRED 2946892 VN1R42P vomeronasal 1 receptor 42 pseudogene 7 7 q11.21 58112733 58113211 + 64393651 64394129 + 19952141 100312794 ABBA01027988;AC092161;AMYH01017437;NG_015652 2175663 GDB:1318354 pseudo 37362 INFERRED 2946893 VN1R43P vomeronasal 1 receptor 43 pseudogene 7 7 q11.21 58152364 58152671 - 64433295 64433602 - 19952141 100312795 ABBA01027989;AC073210;AMYH01017438;NG_015653 1654032;1680226 RH17834;SHGC-36553 pseudo 37363 INFERRED 2922958 VN1R44P vomeronasal 1 receptor 44 pseudogene 19952141 100312855 AC011043;AMYH01023848;NG_015713 pseudo 37364 INFERRED 2946890 VN1R45P vomeronasal 1 receptor 45 pseudogene 8 8 p11.21 42019334 42019463 - 43071627 43071756 - 19952141 100312796 ABBA01021194;AC022616;AMYH01018694;NG_015654 pseudo 37365 INFERRED 3516402 VN1R46P vomeronasal 1 receptor 46 pseudogene 8 8 8 p11.21 42023102 42023983 - 43194202 43195109 - 43075071 43075952 - 19952141 100131789 ABBA01021195;AC022616;AMYH01018694;NG_014057 pseudo 37366 INFERRED 2946887 VN1R47P vomeronasal 1 receptor 47 pseudogene 9 9 p13.3 33442598 33442781 - 33512524 33512707 - 19952141 100312797 ABBA01065049;AL139008;AMYH01019324;NG_015655 pseudo 37367 INFERRED 2946888 VN1R48P vomeronasal 1 receptor 48 pseudogene 9 9 p13.1 38437433 38438369 - 38504498 38505434 - 19952141 100312798 ABBA01050379;AL390726;AMYH01019367;NG_015656 pseudo 37368 INFERRED 2946889 VN1R49P vomeronasal 1 receptor 49 pseudogene 9 q13 66669094 66669628 + 19952141 100312799 ABBA01193644;AL954185;AMYH01021089;NG_015657 pseudo 37369 INFERRED 2923053 VN1R50P vomeronasal 1 receptor 50 pseudogene 9 q21.11 69851957 69852491 + 19952141 100312800 AL359955;AMYH01021298;NG_015658 pseudo 37370 INFERRED 2923054 VN1R51P vomeronasal 1 receptor 51 pseudogene 9 9 q22.33 70370300 70371202 - 99856018 99856920 - 19952141 100312801 ABBA01042939;AL445670;AMYH01021551;NG_015659 pseudo 37371 INFERRED 2923056 VN1R52P vomeronasal 1 receptor 52 pseudogene 9 9 q22.33 70511842 70512027 + 99997550 99997735 + 19952141 100312802 ABBA01042936;AL590705;AMYH01021552;NG_015660 pseudo 37372 INFERRED 2923051 VN1R53P vomeronasal 1 receptor 53 pseudogene 10 10 p11.21 37408321 37409172 + 37637544 37638396 + 19952141 100312806 ABBA01033303;AL157387;AMYH01002259;NG_015664 pseudo 37373 INFERRED 1352823 VN1R10P vomeronasal 1 receptor 10 pseudogene 6 6 p22.1 28898708 28899644 + 27292540 27293742 + 19952141;11181995;12477932 387316 Q9BX81 ABBA01037993;AF336874;AF352327;AL021808;AMYH01016188;BC107050;CH471081;NR_045612 AAI07051;AAK21300;AAK32715;EAX03091;EAX03092 Hs.326753 FKSG83;MGC129573;VNR6I1P;b24o18.2;hs6V1-1p pseudo 13550 VALIDATED 2923048 VN1R55P vomeronasal 1 receptor 55 pseudogene 10 10 q23.31 83765186 83765932 - 90018314 90019060 - 19952141 100312808 ABBA01021956;AL353149;AMYH01002932;NG_015666 pseudo 37375 INFERRED 2923049 VN1R54P vomeronasal 1 receptor 54 pseudogene 10 10 q11.21 39159677 39160563 + 43156292 43157178 + 19952141 100312807 ABBA01049992;AL022344;AMYH01002282;NG_015665 pseudo 37374 INFERRED 2946905 VN1R56P vomeronasal 1 receptor 56 pseudogene 11 11 p15.4 3359947 3360390 - 3370404 3370847 - 19952141 100312774 ABBA01032065;AC123788;AMYH01003346;NG_015632 pseudo 37376 INFERRED 2923046 VN1R57P vomeronasal 1 receptor 57 pseudogene 12 12 q21.31 81929921 81930651 + 82262147 82262877 + 19952141 100312809 ABBA01053480;AC091515;AMYH01004620;NG_015667 pseudo 37377 INFERRED 2923047 VN1R58P vomeronasal 1 receptor 58 pseudogene 13 q11 19037570 19038043 - 19952141 100312810 AL138715;AMYH01004924;NG_015668 pseudo 37378 INFERRED 2923045 VN1R59P vomeronasal 1 receptor 59 pseudogene 14 14 q23.1 41061247 41061609 + 61011112 61011474 + 19952141 100312811 ABBA01018282;AL049874;AMYH01005766;NG_015669 pseudo 37379 INFERRED 2923044 VN1R60P vomeronasal 1 receptor 60 pseudogene 15 q11.2 21095446 21095944 - 19952141 100312812 AC012414;NG_015670 1700614 RH103929 pseudo 37380 INFERRED 2923043 VN1R61P vomeronasal 1 receptor 61 pseudogene 15 q11.2 21098436 21099291 - 19952141 100312813 AC037471;AMYH01006240;NG_015671 pseudo 37381 INFERRED 2923040 VN1R62P vomeronasal 1 receptor 62 pseudogene 15 q11.2 22106621 22107119 - 19952141 100312814 ABBA01177140;AC183089;AMYH01006343;NG_015672 1700614 RH103929 pseudo 37382 INFERRED 2923041 VN1R63P vomeronasal 1 receptor 63 pseudogene 15 q11.2 22109611 22110466 - 19952141 100312815 ABBA01177140;AC183089;AMYH01006343;NG_015673 pseudo 37383 INFERRED 1353808 VN1R2 vomeronasal 1 receptor 2 19 19 19 q13.42 50803443 50804753 + 58453357 58454667 + 53761545 53762855 + 1580863;6480464 12826614;12477932;12123587;12044878;19952141 317701 Q8NFZ6 AB083607;ABBA01068218;AC092070;AF370359;AMYH01009959;AY312480;AY312481;AY312482;BC130356;BC130358;CH471135;CS248074;NM_173856 AAI30357;AAI30359;AAM83034;AAP85615;AAP85616;AAP85617;ADR82959;BAB89320;CAJ56564;EAW72126;NP_776255;Q8NFZ6 Hs.553684 5492845;5493729 UniSTS:483021;UniSTS:494436 V1RL2 G-protein coupled receptor GPCR25;V1R-like 2;V1r-like receptor 2;hGPCR25;pheromone receptor;vomeronasal type-1 receptor 2 protein-coding ENSG00000196131 19872 18286 VALIDATED 3497433 VN1R65P vomeronasal 1 receptor 65 pseudogene 16 16 16 p11.2 28742511 28743385 - 31469577 31473740 + 31565374 31566248 + 19952141 100128384 AC106730;AMYH01007509;NG_014049 1688566;1720529 G59218;RH99239 pseudo 37385 INFERRED 3302175 VN1R66P vomeronasal 1 receptor 66 pseudogene 16 16 16 p11.2 28648251 28649164 - 31564687 31568053 + 31659639 31660552 + 19952141 100129315 ABBA01042101;AC106730;AMYH01007509;NG_014050 pseudo 37386 INFERRED 3102884 VN1R64P vomeronasal 1 receptor 64 pseudogene 16 16 16 p11.2 28749701 28750633 - 31465520 31466559 + 31558126 31559058 + 19952141 730196 ABBA01042096;AC106730;AMYH01007509;NG_013422 pseudo 37384 INFERRED 2859190 VN1R67P vomeronasal 1 receptor 67 pseudogene 16 16 16 p11.2 28495016 28495891 + 31720428 31721249 - 31812927 31813802 - 19952141 100131118 ABBA01042102;AC002519;AMYH01007510;NG_014054 pseudo 37387 INFERRED 1349927 VN1R6P vomeronasal 1 receptor 6 pseudogene 19 19 19 q13.42 50860015 50861067 + 58510144 58511202 + 53818331 53819385 + 653753 ABBA01068217;AC010467;AMYH01009959;NG_012999 1334956 D19S921 VNR19I2;ZVNH2;ZVNR2 pseudo 13712 INFERRED 3539537 VN1R68P vomeronasal 1 receptor 68 pseudogene 16 16 16 p11.2 66737521 66738341 - 34210373 34237548 - 34352543 34353363 - 19952141 100131688 ABBA01002118;AC023824;AC092133;AMYH01007634;NG_014056 pseudo 37389 INFERRED 3129620 VN1R70P vomeronasal 1 receptor 70 pseudogene 16 16 16 p11.1 67455931 67456870 + 34928724 34929663 + 35071223 35072162 + 19952141 100130059 ABBA01002109;AC106785;AMYH01007638;NG_014052 pseudo 37391 INFERRED 2923038 VN1R71P vomeronasal 1 receptor 71 pseudogene 17 17 q11.1 22249872 22250819 + 25384424 25385371 + 19952141 100312817 ABBA01015073;AC069061;AMYH01008274;NG_015675 pseudo 37392 INFERRED 2922960 VN1R72P vomeronasal 1 receptor 72 pseudogene 19952141 100312853 AC011841;NG_015711 pseudo 37393 INFERRED 1313180 VN1R3 vomeronasal 1 receptor 3 (gene/pseudogene) 16 16 16 p11.2 28488651 28489907 + 31726407 31727675 - 31818911 31820167 - 1580863;6480464 12826614;12477932;12123587;19952141 317702 Q9BXE9 ABBA01042102;AC002519;AF336873;AMYH01007510;BC107073;BC107074;CH471192;NG_005664 AAK21299;EAW52107;Q9BXE9 Hs.257746 5493075 UniSTS:484170 FKSG46;MGC129709;MGC129710;V1RL3;V1RL3p APPROVED pseudo 19867 INFERRED 2923042 VN1R69P vomeronasal 1 receptor 69 pseudogene 16 16 p11.2 66753773 66754731 + 34368836 34369794 + 19952141 100312816 ABBA01002118;AC023824;AMYH01007634;NG_015674 pseudo 37390 INFERRED 2923035 VN1R73P vomeronasal 1 receptor 73 pseudogene 18 18 p11.21 13957413 13957913 - 14075239 14075739 - 19952141 100312818 ABBA01074043;AC006557;AMYH01008854;NG_015676 7187967 D18S360E pseudo 37394 INFERRED 2923034 VN1R74P vomeronasal 1 receptor 74 pseudogene 18 p11.21 14680405 14681321 - 19952141 100312819 ABBA01074081;AMYH01008859;AP006564;NG_015677 pseudo 37395 INFERRED 2923037 VN1R75P vomeronasal 1 receptor 75 pseudogene 18 p11.21 15276414 15276887 + 19952141 100312820 AMYH01008873;AP005901;NG_015678 pseudo 37396 INFERRED 2923030 VN1R78P vomeronasal 1 receptor 78 pseudogene 19 19 p12 20600148 20600865 - 20765736 20766453 - 19952141 100312823 ABBA01051357;AC010636;AMYH01009626;NG_015681 pseudo 37399 INFERRED 2923032 VN1R76P vomeronasal 1 receptor 76 pseudogene 18 18 q21.2 46801372 46801868 - 49945527 49946023 - 19952141 100312821 ABBA01018698;AC011155;AMYH01009004;NG_015679 pseudo 37397 INFERRED 2923033 VN1R77P vomeronasal 1 receptor 77 pseudogene 19 19 p12 19995492 19995811 - 20090100 20090419 - 19952141 100312822 ABBA01051344;AC007204;AMYH01009612;NG_015680 pseudo 37398 INFERRED 2923031 VN1R79P vomeronasal 1 receptor 79 pseudogene 19 19 p12 20775710 20776384 + 20941270 20941944 + 19952141 100312824 ABBA01051359;AC010329;AMYH01009628;NG_015682 pseudo 37400 INFERRED 1318565 VN1R1 vomeronasal 1 receptor 1 Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] 19 19 19 q13.4 55010244 55011556 - 62658354 62659666 - 57966542 57968107 - 1580863 17627382;15489334;14702039;12826614;12477932;12044878;11163270;11116092;10973240;19952141;20379614 57191 Q9GZP7 AB083606;ABBA01020808;AC004076;AF255342;AF302903;AK094452;AMYH01010028;AY312477;AY312478;AY312479;BC095508;BG167434;CH471135;NM_020633 AAG10698;AAG22545;AAH95508;AAP85612;AAP85613;AAP85614;BAB89319;BAG52867;EAW72503;NP_065684;Q9GZP7 Hs.677423;Hs.736494 5493199 UniSTS:484716 V1RL1;VNR19I1;ZVNH1;ZVNR1 G-protein coupled receptor GPCR24;V1R-like 1;V1r-like receptor 1;V3r-related gene protein;hGPCR24;vomeronasal olfactory receptor chromosome 19 subtype I member 1;vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1;vomeronasal type-1 receptor 1 APPROVED protein-coding ENSG00000178201 13548 05571 605234 REVIEWED 1349341 VN1R7P vomeronasal 1 receptor 7 pseudogene 21 21 p11.2 10161241 10190619 - 11153077 11154804 - 11116092;10830953 100132759 AF253314;AF254983;AMYH01012129;AP003900;NG_002218 1730841;1737415;1772188;2143973 D13S989;D21S383;D22S1110;DXS7321 ORLP1;PHB4C5 pseudo 8496 INFERRED 2923039 VN1R81P vomeronasal 1 receptor 81 pseudogene 19 19 p12 21141589 21142304 + 21306620 21307335 + 19952141 100312826 ABBA01051368;AC010620;AMYH01009630;NG_015684 pseudo 37401 INFERRED 2923036 VN1R80P vomeronasal 1 receptor 80 pseudogene 19 19 p12 21081687 21082024 + 21246730 21247067 + 19952141 100312825 ABBA01051365;AC012627;AMYH01009630;NG_015683 pseudo 37329 INFERRED 2923027 VN1R82P vomeronasal 1 receptor 82 pseudogene 19 19 p12 21206280 21206832 + 21371343 21371895 + 19952141 100312827 ABBA01051370;AC010620;AMYH01009631;NG_015685 pseudo 37402 INFERRED 2923029 VN1R84P vomeronasal 1 receptor 84 pseudogene 19 19 p12 21737223 21737736 - 21902429 21902942 - 19952141 100312829 ABBA01032165;AC092364;AMYH01009636;NG_015687 pseudo 37404 INFERRED 2923028 VN1R83P vomeronasal 1 receptor 83 pseudogene 19 19 p12 21307287 21307729 - 21472356 21472800 - 19952141 100312828 ABBA01051370;AC022432;AMYH01009632;NG_015686 pseudo 37403 INFERRED 2923024 VN1R87P vomeronasal 1 receptor 87 pseudogene 19 19 p12 22759993 22760479 - 22925726 22926212 - 19952141 100312832 ABBA01051416;AC024563;AMYH01009646;NG_015690 pseudo 37407 INFERRED 2923025 VN1R86P vomeronasal 1 receptor 86 pseudogene 19 19 p12 22491321 22491629 + 22659308 22659616 + 19952141 100312831 ABBA01051411;AC004004;AMYH01009643;NG_015689 pseudo 37406 INFERRED 2923026 VN1R85P vomeronasal 1 receptor 85 pseudogene 19 19 p12 22189818 22190243 - 22357568 22357993 - 19952141 100312830 ABBA01051403;AC073539;AMYH01009641;NG_015688 pseudo 37405 INFERRED 2923023 VN1R88P vomeronasal 1 receptor 88 pseudogene 19 19 p12 22878042 22878443 + 23044007 23044408 + 19952141 100312833 ABBA01051421;AC022145;AMYH01009648;NG_015691 pseudo 37408 INFERRED 2923021 VN1R90P vomeronasal 1 receptor 90 pseudogene 19 19 p12 23302914 23303658 + 23471416 23472160 + 19952141 100312835 ABBA01051430;AC010300;AMYH01009653;NG_015693 pseudo 37410 INFERRED 2923022 VN1R89P vomeronasal 1 receptor 89 pseudogene 19 19 p12 22984845 22985239 - 23153324 23153718 - 19952141 100312834 ABBA01051424;AC022145;AMYH01009651;NG_015692 pseudo 37409 INFERRED 2923020 VN1R91P vomeronasal 1 receptor 91 pseudogene 19 19 p12 23304389 23305277 + 23472931 23473819 + 19952141 100312836 ABBA01051430;AC010300;AMYH01009653;NG_015694 pseudo 37411 INFERRED 2923019 VN1R92P vomeronasal 1 receptor 92 pseudogene 19 19 p12 23461445 23462346 + 23627090 23627991 + 19952141 100312837 ABBA01051432;AC022409;AMYH01009655;NG_015695 pseudo 37412 INFERRED 2923018 VN1R93P vomeronasal 1 receptor 93 pseudogene 19 19 p12 23621968 23622520 + 23785369 23785921 + 19952141 100312838 ABBA01051435;AC073544;AMYH01009656;NG_015696 pseudo 37413 INFERRED 2923017 VN1R94P vomeronasal 1 receptor 94 pseudogene 19 19 p12 23760400 23760713 - 23922404 23922717 - 19952141 100312839 ABBA01051443;AC073544;AMYH01009658;NG_015697 pseudo 37414 INFERRED 2923016 VN1R97P vomeronasal 1 receptor 97 pseudogene 19 19 q13.33 45620250 45620597 + 48755012 48755359 + 19952141 100312840 ABBA01033008;AC008392;AMYH01009900;NG_015698;NG_029574 pseudo 37417 INFERRED 2923014 VN1R99P vomeronasal 1 receptor 99 pseudogene 19 19 q13.41 49794536 49795278 - 52744982 52745724 - 19952141 100312842 ABBA01068260;AC010320;AMYH01009954;NG_015700 pseudo 37419 INFERRED 2923015 VN1R98P vomeronasal 1 receptor 98 pseudogene 19 19 q13.41 49409511 49409822 - 52359953 52360264 - 19952141 100312841 ABBA01068262;AC006272;AMYH01009954;NG_015699 1686384;1696908;1789138 G65705;RH101921;RH79636 pseudo 37418 INFERRED 1625461 VN2R10P vomeronasal 2 receptor 10 pseudogene 16 16 16 q23.1 61551827 61552697 + 75811792 75812662 + 77254291 77255161 + 100033398 ABBA01017037;AC009139;AMYH01007824;NG_006059 pseudo 33216 INFERRED 1625460 VN2R11P vomeronasal 2 receptor 11 pseudogene 19 19 19 p13.3 532027 532716 - 230554 231243 + 279554 280243 + 100033399 ABBA01002551;AC016588;AMYH01009178;NG_006060 pseudo 33217 INFERRED 1344481 VN1R9P vomeronasal 1 receptor 9 pseudogene 22 22 22 q11.1 1124517 1125432 - 15881404 15883326 - 17502245 17503160 - 19952141 317691 ABBA01001460;AC006548;AMYH01012423;NG_015792 VN1R22-1P pseudo 20257 INFERRED 2859164 VN1R95P vomeronasal 1 receptor 95 pseudogene 19 19 19 q11 24994716 24995567 + 32976643 32989012 + 28294449 28295300 + 19952141 100131141 ABBA01039519;AC006504;AMYH01009663;NG_014055 1340055;1675361;1688052;1693728;1703248;1777693 D19S419;RH18236;RH92307;SGC32471;SGC33806;SHGC-58650 pseudo 37415 INFERRED 1625459 VN2R12P vomeronasal 2 receptor 12 pseudogene 19 19 19 p13.2 11625883 11626205 - 11592717 11593039 - 11731717 11732039 - 100033400 ABBA01029830;AC104527;AMYH01009488;NG_006061 pseudo 33218 INFERRED 1625458 VN2R13P vomeronasal 2 receptor 13 pseudogene 19 19 19 p13.2 11841621 11841856 - 11808251 11808486 - 11947251 11947486 - 100033401 ABBA01029823;AC008543;AMYH01009488;NG_006062 pseudo 33219 INFERRED 1349116 VN1R8P vomeronasal 1 receptor 8 pseudogene 21 21 21 q11 166988 168037 + 13770433 13771647 + 14848562 14849776 + 10830953;19952141 54041 AL050302;AL078475;AMYH01012131;NG_002647 ORLP2 pseudo 8497 INFERRED 2802020 VN1R96P vomeronasal 1 receptor 96 pseudogene 19 19 19 q13.2 37425597 37426504 - 45319070 45376650 - 40627230 40628137 - 19952141 100127969 ABBA01040740;AC011496;AMYH01009797;NG_014047 1335172 D19S552 pseudo 37416 INFERRED 1625457 VN2R14P vomeronasal 2 receptor 14 pseudogene 19 19 19 p13.2 11876811 11877045 - 11843437 11843671 - 11982437 11982671 - 100033402 ABBA01029822;AC008770;AMYH01009488;NG_006063 pseudo 33220 INFERRED 1625841 VN2R16P vomeronasal 2 receptor 16 pseudogene 19 19 19 p13.2 12608370 12608516 - 12579646 12579792 - 12718646 12718792 - 100033404 ABBA01029788;AC010422;AMYH01009492;NG_006108 pseudo 33222 INFERRED 2291771 VN2R15P vomeronasal 2 receptor 15 pseudogene 19 19 p13.2 11920515 11920750 - 12026141 12026376 - 100033403 ABBA01029821;AC008770;AMYH01009488;NG_007173 pseudo 33221 INFERRED 1625095 VN2R17P vomeronasal 2 receptor 17 pseudogene 19 19 19 q13.43 53871756 53872358 - 61520464 61521066 - 56828652 56829254 - 649186 Q8NGA3 AB065923;ABBA01020837;AC006116;AMYH01010019;NG_006107 BAC06138 pseudo 33223 INFERRED 1625456 VN2R19P vomeronasal 2 receptor 19 pseudogene 19 19 19 q13.43 55567436 55568280 - 63215766 63216610 - 58523954 58524798 - 100033407 ABBA01020788;AC008969;AMYH01010031;NG_006064 pseudo 33225 INFERRED 1625455 VN2R20P vomeronasal 2 receptor 20 pseudogene 21 21 21 q21.2 10464569 10464799 + 24204313 24204543 + 25282442 25282672 + 100033408 ABBA01057193;AMYH01012171;AP000474;NG_006065 pseudo 33226 INFERRED 2291769 VN2R21P vomeronasal 2 receptor 21 pseudogene 19 19 p13.2 11958381 11958666 - 12064004 12064289 - 100127050 ABBA01029818;AC008770;AMYH01009488;NG_007174 1778054;2122593 D19S1118;STS-AA035593 pseudo 33938 INFERRED 1606395 VN2R1P vomeronasal 2 receptor 1 pseudogene 3 3 q25.31 157234065 157238130 + 155751371 155755436 + 6480464 12044878 344760 Q8TDU1 AB065664;AB083610;ABBA01058844;ABBA01058845;AC067721;AMYH01013597;NG_006066 BAB89323;BAC05890 1700506;1856700 RH103874;SHGC-53910 CASRL1;GPRC2B pseudo 30344 INFERRED 1625468 VN2R2P vomeronasal 2 receptor 2 pseudogene 5 5 5 q35.3 173716500 173717185 + 178021775 178022460 + 178089169 178089854 + 100033391 ABBA01010004;AC022096;AMYH01015945;NG_006052 pseudo 33208 INFERRED 1625467 VN2R3P vomeronasal 2 receptor 3 pseudogene 9 9 p13.1 39016653 39029601 + 39026653 39039601 + 100033392 AL353729;AMYH01019404;NG_006053 pseudo 33209 INFERRED 1625466 VN2R4P vomeronasal 2 receptor 4 pseudogene 9 9 p13.1 40053114 40066067 - 40063114 40076067 - 100033393 AL353791;NG_006054 pseudo 33210 INFERRED 2291770 VN2R18P vomeronasal 2 receptor 18 pseudogene 19 19 q13.43 53892698 53893385 - 56849587 56850274 - 17382427 100033406 ABBA01020837;AC006116;AMYH01010019;NG_007172 pseudo 33224 INFERRED 1625465 VN2R5P vomeronasal 2 receptor 5 pseudogene 9 9 p12 40361834 40374803 - 40371834 40384803 - 100033394 AC025861;AL592525;NG_006055 VN2R8P pseudo 33211 INFERRED 1625464 VN2R6P vomeronasal 2 receptor 6 pseudogene 9 9 p11.1 47043679 47054708 + 47253859 47264888 + 100033395 AL953854;NG_006056 pseudo 33212 INFERRED 1625463 VN2R7P vomeronasal 2 receptor 7 pseudogene 9 9 q12 65436433 65447462 - 65696613 65707642 - 100033396 BX005195;NG_006057 pseudo 33213 INFERRED 1625462 VN2R8P vomeronasal 2 receptor 8 pseudogene 100033397 AC025861;NG_006058 pseudo 33214 1347041 VN1R4 vomeronasal 1 receptor 4 19 19 19 q13.42 50811899 50812804 - 58461825 58462730 - 53770013 53770918 - 6480464 15489334;12826614;12477932;12123587;12044878;18029348;19952141 317703 Q7Z5H5 AB083609;ABBA01068217;AC092070;AMYH01009959;AY114733;AY312485;AY312486;AY312487;AY312488;BC104935;BC104939;CS248620;NM_173857 AAI04936;AAI04940;AAM66754;AAP85618;AAP85619;AAP85620;AAP85621;BAB89322;CAJ56825;NP_776256;Q7Z5H5 Hs.553685 1334956;5493283 D19S921;UniSTS:485589 V1RL4 G-protein coupled receptor GPCR27;V1R-like 4;V1r-like receptor 4;hGPCR27;pheromone receptor;vomeronasal type-1 receptor 4 protein-coding ENSG00000228567 19871 18287 VALIDATED 1349344 VP variegate porphyria 7240710 12707 125700 1352631 VN1R5 vomeronasal 1 receptor 5 (gene/pseudogene) 1 1 1 q44 220715747 220716820 + 245485997 245487070 + 247419374 247420447 + 15489334;12826614;12477932;12123587;12044878;19952141 317705 Q7Z5H4 AB083608;ABBA01031783;AC104335;AMYH01001910;AY114735;AY312489;AY312491;BC126341;BC126367;CH471148;NM_173858 AAI26342;AAI26368;AAM66756;AAP85622;AAP85623;BAB89321;EAW77177;NP_776257;Q7Z5H4 Hs.553686 5493081;5493807 UniSTS:484163;UniSTS:494906 V1RL5 G-protein coupled receptor GPCR26;V1R-like 5;V1r-like receptor 5;hGPCR26;pheromone receptor;vomeronasal type-1 receptor 5 APPROVED protein-coding 19870 18288 VALIDATED 1604409 VN2R9P vomeronasal 2 receptor 9 pseudogene 11 11 11 q12.1 55165301 55191412 - 57564816 57591007 - 57808240 57834431 - 12477932 648315 ABBA01021483;ABBA01021484;ABBA01021485;AMYH01003656;AMYH01003657;AMYH01003658;AP004247;BC067882;NG_005898 Hs.652053 pseudo 33215 INFERRED 1351839 VNN3 vanin 3 This gene is the central gene in a cluster of three vanin genes on chromosome 6q23-q24. The open reading frame is disrupted by a frameshift, and all splice variants that have been described are candidates for nonsense-mediated decay (NMD). Consequently, it is unlikely that this gene expresses a protein in vivo, so it is classified as a pseudogene. Extensive alternative splicing has been described; the two most common variants are represented as RefSeqs. [provided by RefSeq, Aug 2009] 6 6 6 q23.2 133790754 133802735 - 133085619 133097596 - 133043926 133055904 - 1580863;6480464 11491533;14574404;12477932;10501839;16344560;18805469;19322213;19932582 55350 F5GYI1;F5GYM6;H0YFQ7;Q3SX90 AA461622;AB435052;AB435053;AB435054;AB435055;AB435056;AB435057;AB435058;AB435059;AB435060;AB435061;ABBA01025877;AJ238982;AK075110;AK314708;AL032821;AMYH01016676;BC104416;BC104417;BC113022;BC113023;BC148317;CH471051;DA670661;DQ220706;NR_028290;NR_028291 AAI04417;AAI04418;AAI13023;AAI13024;AAI48318;ABA60895;BAG30924;BAG30925;BAG30926;BAG30927;BAG30928;BAG30929;BAG30930;BAG30931;BAG30932;BAG30933;BAG37255;CAB76824;EAW48017;EAW48018;EAW48019;Q9NY84 Hs.183656 2159550;2180722 G29492;STS-H59891 HSA238982;MGC171203;PAGEL-beta;PAGEL-eta;PAGEL-zeta APPROVED pseudo ENSG00000093134 16431 09420 606592 REVIEWED 1353663 VNN2 vanin 2 This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] 6 6 q23-q24 133106702 133126291 - 133065009 133084598 - 1580863;6480464;6907045 11491533;9790769;18805469;18095154;17543284;16335952;15489334;14748512;14574404;12967480;12777063;12749849;12477932;12056825;11200068;10201959;21666788 8875 B2DFZ3;B4DQB2;E9PK31;E9PL76;E9PLK5;E9PQ75;E9PRD9;J3KQ55;J3KQQ7;J3QT03 AB026705;AB435062;AB435063;AB435064;AB435065;ABBA01025876;ABBA01025877;AJ132100;AK290908;AK292125;AK298719;AL032821;AMYH01016676;BC064641;BC126145;BC126147;BC144064;CH471051;D89974;DQ249347;NM_001242350;NM_004665;NM_078488;NR_034173;NR_034174 AAI26146;AAI26148;ABB72673;ADR83036;ADR83203;BAA82525;BAB61019;BAF83597;BAF84814;BAG30934;BAG30935;BAG30936;BAG30937;BAG60874;CAA10569;EAW48015;EAW48016;NP_001229279;NP_004656;NP_511043;O95498 Hs.293130 1701554 RH104410 FOAP-4;GPI-80 GPI-80 variant protein 1;GPI-80 variant protein 2;GPI-80 variant protein 3;GPI-80 variant protein 4;OTTHUMP00000017228;OTTHUMP00000233789;OTTHUMP00000233791;Vannin 2;glycosylphosphatidyl inositol-anchored protein GPI-80;pantetheinase;protein FOAP-4;vanin-2;vascular non-inflammatory molecule 2 APPROVED protein-coding ENSG00000112303 12706 04652 603571 REVIEWED 6769546 VPS13A-AS1 VPS13A antisense RNA 1 9 q21.2 79791672 79792833 - 100286938 AA626167;ABBA01033926;AL353710;AMYH01021430;DB509755;NR_026668 Hs.662256 APPROVED miscrna ENSG00000232998 44167 VALIDATED 1347336 VPREB1 pre-B lymphocyte 1 The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. [provided by RefSeq, Oct 2008] 22 22 q11.22 20929200 20929926 + 22599200 22599926 + 1580863;6480464 16818733;15461802;12477932;12271131;11994467;11564802;9074928;9058786;8020565;7961773;7935499;3258819;3139558;2117639;17474147;20237496;21144590 7441 F8W8C9;P12018 ABBA01055082;AMYH01012639;BC017922;CH471095;CR456609;D86992;D88270;M34927;NG_000002;NG_029387;NM_007128;S74019 AAA61292;AAB32118;AAI52787;BAA19987;BAA20030;CAG30495;CAK54636;CAK54935;EAW59498;NP_009059;P12018 Hs.247979 1678495 WIAF-2544 IGI;IGVPB;VPREB CD179 antigen-like family member A;CD179a;OTTHUMP00000199011;OTTHUMP00000199012;immunoglobulin iota chain;v(pre)B protein APPROVED protein-coding ENSG00000169575 12709 05505 605141 REVIEWED 1602094 VOPP1 vesicular, overexpressed in cancer, prosurvival protein 1 7 7 p11.2 55505800 55607694 - 55538306 55640200 - 6480464 19525979;19505301;17515955;16943533;16381901;16303743;15735698;15489336;15146197;14702039;12761501;12477932;11256614;11230166;12690205;11076863;8125298;19851296;20198315;21519330;22118674;21139048 81552 C9J548;C9J827;C9JF99;C9JIM1;C9JQ18;C9JTY8;C9JVH1;C9JWR3;F8WDC2;Q96AW1 AACC02000091;AB097004;ABBA01011854;AC073237;AC073347;AC099681;AF395824;AK000539;AK075391;AK090825;AK092992;AK126848;AK225755;AK309288;AK314338;AK315882;AL136610;AMYH01017270;BC016650;CH236957;CH471201;CN299440;CR533483;NM_030796 AAH16650;AAK82888;BAC11590;BAC77357;BAF98773;BAG36981;BAG52634;CAB66545;CAG38514;CAL37999;EAL23811;EAW50969;EAW50970;EAW50971;EAW50972;NP_110423;Q96AW1 Hs.488307 1340525;1674691;1678707;1691234;1695544;1758883;1786488;2137713;2145587;2161697;2180119;7184009 Cda1dc11;D7S2871;D7S499;G17132;RH78018;SHGC-151050;SHGC-30962;SHGC-63593;SHGC-68707;SHGC-79617;STS-AA019598 DKFZp564K0822;ECOP;FLJ20532;GASP EGFR-coamplified and overexpressed protein;Glioblastoma-amplified secreted protein;OTTHUMP00000209214;OTTHUMP00000209217;OTTHUMP00000209218;OTTHUMP00000209221;hypothetical protein DKFZp564K0822;putative NF-kappa-B-activating protein 055N;vesicular, overexpressed in cancer, prosurvival protein 1 APPROVED protein-coding ENSG00000154978 34518 08526 611915 VALIDATED 1320770 VNN1 vanin 1 This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009] 6 6 q23-q24 133044422 133076881 - 133001997 133035194 - 1580863;1300048;6480464;6907045;7240710 17145956;9790769;11491533;18043751;17312006;16335952;15489334;15282320;15084671;14966568;14702039;14574404;12477932;10567687;8934567;20641033;19322213;20571492;21325602;21544065;21907259;21550219;23185446 8876 O95497 ABBA01025878;AJ132099;AK095461;AK290425;AK314265;AL032821;AMYH01016676;BC096265;BC096266;BC096267;BC096268;BJ995136;CH471051;DQ100297;NG_012147;NM_004666;U39664 AAF21453;AAH96265;AAH96266;AAH96267;AAH96268;AAY88742;BAF83114;BAG36929;CAA10568;EAW48020;NP_004657;O95497 Hs.12114;Hs.720659 5021670 VNN1 HDLCQ8;MGC116930;MGC116931;MGC116932;MGC116933;Tiff66 OTTHUMP00000017227;pantetheinase;pantetheine hydrolase;vanin-1;vannin 1;vascular non-inflammatory molecule 1 APPROVED protein-coding ENSG00000112299 12705 04651 603570 REVIEWED 1605417 VPRBP Vpr (HIV-1) binding protein 3 3 p21.2 51408338 51509041 - 51433298 51534018 - 6480464 19029839;18606781;18332868;17626091;17620334;17609381;17314515;16888644;14702039;12477932;12111997;11223251;9872452;8195203;18464893;21145461;22776683;15342556;16949367;19615732;20178741;20870715;20562859;20347598;18850735;22939629;23612978;23667531;23677995;20824083;17370265;17559673;18775313;19287380;20360068;21226479;21987572;22157821;22386056;22570418;9520381;12237292;22362772;17079684;18829761;19923175;21566118;21696578;22963397;17630831;21139048;21890473;21906983;21963094;22184063;22292079;15385968;19264781;21957298;23000965;23362280;17855541;18187620;18514189;18541215;19275579;19275585;19275588;19295130;19380743;19458171;19657269;19667756;19798433;19838296;20008788;20012529;20018238;20069611;20089662;20380700;21318276;21489275;21526938;21918813;21994772;22072767;22190034;22190037;22422068;22438978;23063525 9730 D6RAK9;H0Y4P3;Q9Y4B6 AB018343;ABBA01024525;ABBA01024526;ABBA01024527;ABBA01024528;ABBA01024529;ABBA01024530;ABBA01024531;AC092037;AC233756;AF061935;AF086402;AK023239;AL080145;AMYH01013178;BC022792;BC110371;BP222559;CH471055;CR986856;NM_001171904;NM_014703 AAG27134;AAH22792;AAI10372;BAA34520;BAG51173;CAB45738;EAW65140;EAW65141;EAW65142;EAW65143;NP_001165375;NP_055518;Q9Y4B6 Hs.716623 1671622;1675214;1691138;1778665;1850926;2109415;2112752 D3S2871E;D3S3947;D3S4443;HUMAGCGB_9597;RH41778;RH93354;SHGC-57673 DCAF1;KIAA0800;MGC102804 DDB1 and CUL4 associated factor 1;DDB1- and CUL4-associated factor 1;HIV-1 Vpr-binding protein;OTTHUMP00000222417;Vpr-binding protein;protein VPRBP;vpr-interacting protein protein-coding 30911 11674 VALIDATED 1315630 VPREB3 pre-B lymphocyte 3 The protein encoded by this gene is the human homolog of the mouse VpreB3 (8HS20) protein, and is specifically expressed in cell lines representative of all stages of B-cell differentiation. It is also related to VPREB1 and other members of the immunoglobulin supergene family. This protein associates with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. The precise function of the protein is not known, but it may contribute to mu chain transport in pre-B cells. [provided by RefSeq, Sep 2008] 22 22 22 q11.23 7934023 7935723 - 22424932 22426592 - 24094930 24096630 - 1580863;6480464 10702669;18029348;15757909;15489334;15461802;14670953;12975309;12477932;8166770;7961773 29802 A8MX21;Q9UKI3 AB050772;ABBA01055120;AF163825;AK312098;AMYH01012647;AP000348;AY359000;BC020666;BQ899182;CH471095;CR456610;NM_013378 AAF09451;AAH20666;AAQ89359;ABM84032;ABM87378;BAB83034;BAG35034;CAG30496;CAK54637;CAK54936;EAW59598;NP_037510;Q9UKI3 Hs.136713 8HS20;N27C7-2 OTTHUMP00000198415;OTTHUMP00000198416;pre-B lymphocyte gene 3;pre-B lymphocyte protein 3 APPROVED protein-coding ENSG00000128218 12710 05426 605017 REVIEWED 1317598 VPS13B vacuolar protein sorting 13 homolog B (yeast) This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] 8 8 q22.2 100094670 100958984 + 100025494 100889814 + 1357205;1580863;6480464;7240710 12730828 8125298;7920642;19320733;19006247;18655112;17990063;17081983;15498460;15154116;15141358;14702039;12477932;9628581;9359041;20656880;19913121;20628086;19533689;19680589;20301655;20461111;21353197;20360068;21865173;21139048;21906983;22745009 157680 H0YB72;Q8NB77 AB011104;ABBA01037546;ABBA01037547;ABBA01037548;ABBA01037549;ABBA01037550;ABBA01037551;ABBA01037552;ABBA01037553;ABBA01037554;ABBA01037555;ABBA01037556;ABBA01037557;ABBA01037558;AC018442;AC023933;AC026827;AC104986;AC105195;AC105328;AC107909;AJ608772;AJ608773;AK000590;AK091431;AK223122;AMYH01018920;AMYH01018921;AMYH01018922;AMYH01018923;AP004289;AP004290;AY223814;AY223815;AY223816;AY223817;AY223818;BC020813;BC033121;BC094749;BC132976;BC132978;BC144379;BX098890;BX647561;BX648610;CA447487;CH471060;NG_007098;NM_015243;NM_017890;NM_152564;NM_181661;NR_047582 AAH20813;AAH33121;AAP41102;AAP41103;AAP41104;AAP41105;AAP41106;BAA25458;BAA91275;BAC03664;BAD96842;CAE75584;CAE75585;EAW91786;EAW91787;EAW91788;NP_056058;NP_060360;NP_689777;NP_858047;Q7Z7G8 Hs.191540 1335083;1336191;1336773;1339460;1654872;1686744;1698516;1707676;1718909;1732063;1735802;1735822;1747771;1749831;1757527;1759073;1769690;1769883;1786562;1852472;1852962;2114743;2123625;2126915;2130120;2134642;2137879;2143853;2169197;2170857;2171735;2180534;2219058;5015961;5022578;5024756;5094082;5094130;5116978 1734;A003B20;A006N10;A008R07;COH1__4613;D15S1477;D1S1423;D8S1415E;D8S1427E;D8S1649;D8S1762;D8S1789;D8S1808;D8S470;D8S546;D8S590;D8S600;G17262;G32151;G32190;G34962;G54563;G66806;RH102808;RH123160;RH67322;RH68094;RH80030;SHGC-111567;SHGC-112138;SHGC-144958;SHGC-150813;SHGC-52565;SHGC-82008;STS-N66159;WI-11650;WI-14296;WI-17906;ha3298 CHS1;COH1;DKFZp313I0811;KIAA0532 OTTHUMP00000179146;OTTHUMP00000179147;OTTHUMP00000179148;OTTHUMP00000227256;cohen syndrome protein 1;vacuolar protein sorting 13B;vacuolar protein sorting-associated protein 13B APPROVED protein-coding ENSG00000132549 2183 06379 216550;607817 REVIEWED 1317575 VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] 11 11 11 q23 116096175 116110109 + 118443703 118457898 + 118938493 118952688 + 1580863;6480464 15231747;15498874;15489334;14702039;14623309;12477932;11382755;11250079;8125298;16169070;19913121;20628086;16996030;18552835;19109425;16203730;19549727;22939629;21890473;21906983;20682791;22493164;23022380 55823 Q658K0;Q9H270 AB027508;ABBA01039679;ABBA01039680;AF258558;AF308800;AK023279;AK026012;AK056701;AK223158;AK302973;AL834218;AMYH01004080;AP003392;BC012051;BC065563;CH471065;NG_029670;NM_021729 AAG23761;AAG34677;AAH12051;AAH65563;BAA95163;BAB15320;BAD96878;BAG51790;BAH13865;CAH56401;EAW67444;EAW67445;EAW67446;NP_068375;Q9H270 Hs.234282 1671862;1712330;1737771;1773669;2147890;2189503 A004G17;D11S3369;G54074;MARC_7601-7602:992008552:1;STS-Z40836;WI-11749 END1;PEP5;RNF108;hVPS11 RING finger protein 108;vacuolar protein sorting protein 11;vacuolar protein sorting-associated protein 11 homolog APPROVED protein-coding 14583 12258 608549 REVIEWED 6783163 VPS25P1 vacuolar protein sorting 25 homolog (S. cerevisiae) pseudogene 1 1 p12 118092037 118092537 + 441899 ABBA01068503;AL157902;AMYH01000974;NG_022801 1685133 RH66580 pseudo 44250 INFERRED 1312307 VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] 9 9 q21 78982181 79222219 + 79792361 80032399 + 1599747;6480464;7240710 11381253 22038564;9382101;17474147;11381254;17998451;17673232;15918062;15498460;15489334;15164053;15146197;14702039;12671946;12477932;10737800;10231032;20379614;20301561;22366033;21987550;21598378;21963094;21733561;21987572;20972266;21139048;21890473;21906983;22227296 23230 H0Y7P8;H0YF78;H0YG53;Q9H995 AB023203;AB054005;ABBA01033926;ABBA01033927;AF337532;AJ608769;AJ626859;AK000273;AK022967;AK027023;AK124024;AL158159;AL353710;AL359204;AMYH01021430;AW303378;BC020576;BC041852;BF801459;BI828209;BQ011213;CB104862;CD109338;CH471089;CN348731;EB387114;NG_008931;NM_001018037;NM_001018038;NM_015186;NM_033305 AAH20576;AAH41852;AAI72755;AAK61861;BAA76830;BAB14337;BAB59128;BAG53993;CAE75581;CAF25186;EAW62597;EAW62598;EAW62599;EAW62600;EAW62601;EAW62602;NP_001018047;NP_001018048;NP_056001;NP_150648;Q96RL7 Hs.459790;Hs.662256 1338616;1665903;1758835;1778853;2114044;2140062 AB055267;D9S1674;D9S1768;D9S2082;SHGC-150824;SHGC-32427 CHAC;CHOREIN;FLJ42030;KIAA0986 OTTHUMP00000021513;OTTHUMP00000021514;OTTHUMP00000240008;OTTHUMP00000240059;chorea-acanthocytosis protein;vacuolar protein sorting 13A;vacuolar protein sorting-associated protein 13A APPROVED protein-coding ENSG00000197969 1908 05814 200150;605978 REVIEWED 7175203 VPS26AP1 vacuolar protein sorting 26 homolog A (S. pombe) pseudogene 1 3 113638069 113639044 + 100421731 ABBA01061641;AC128687;AMYH01013398;NG_025727 1645066 A009J19 pseudo 44611 INFERRED 1318152 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008] 1 1 1 p36.22 11403306 11683636 + 12212700 12494686 + 12290113 12572099 + 6480464 16710414;15498460;15489334;14702039;12477932;12421765;9455484;9110174;8619474;20379614;20610895;21182205;21139048 55187 F5GX56;F5GZY2;H3BLS7;J3KP14;M0QXS2;Q9UIM0;R4GMW1 AB007922;ABBA01003076;ABBA01003077;ABBA01003078;ABBA01003079;ABBA01003080;ABBA01003081;ABBA01003082;ABBA01003083;ABBA01003084;ABBA01003085;AF052104;AI290874;AJ608774;AJ608775;AK001481;AK026719;AK057675;AK074350;AK125118;AK295882;AK304850;AL031276;AL031296;AL109757;AL162331;AL833079;AL833320;AMYH01000261;BC025329;BC028115;BC051804;BQ883441;BX641035;BX682532;BX784395;BX784396;CH471130;NM_015378;NM_018156 AAH28115;AAH51804;BAA32298;BAC86054;BAG58678;BAH14269;CAB82724;CAE46021;CAE75586;CAE75587;CAI19411;CAI19412;CAI19413;CAI19414;EAW71737;EAW71738;EAW71739;NP_056193;NP_060626;Q5THJ4 Hs.439381 1342089;1663576;1672719;1680080;1688474;1690478;1691874;1692358;1692944;1714699;1720493;1732838;1848227;2107759;2114295;2126293;2136870;2150770;2169399;2169401;2176693;2181328;5123861;7187639 A001Y09;AL009397;AL010021;AL033990;AL034037;AL034187;D1S1279;D1S1907E;D1S2169;D1S434;G19775;G31119;G34866;G59200;RH11824;RH120014;RH79962;RH80215;RH91951;SHGC-24271;SHGC-33665;SHGC-74229;VPS13D__5075 FLJ23066 OTTHUMP00000015345;OTTHUMP00000015346;OTTHUMP00000215031;vacuolar protein sorting 13D;vacuolar protein sorting 13d (yeast);vacuolar protein sorting-associated protein 13D APPROVED protein-coding ENSG00000048707 23595 10593 608877 REVIEWED 7175202 VPS26BP1 vacuolar protein sorting 26 homolog B (S. pombe) pseudogene 1 3 48001820 48002571 - 100421729 ABBA01024665;AC139667;AMYH01013147;NG_025575 pseudo 44612 INFERRED 1348377 VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] 15 15 15 q22.2 39034037 39241888 - 59931880 60139939 - 62144588 62352664 - 6480464 21249489;17081983;15498460;15489334;14702039;12477932;10718198;22581228;20889312;20081857;21789219;21139048;21890473;21906983;17370265;21873549;23000965;23382691;22956255;22505724 54832 Q6ZQY1;Q709C8 AB037842;ABBA01038928;ABBA01038929;ABBA01038930;AC009554;AC104590;AJ608770;AJ608771;AJ626860;AJ626861;AK000143;AK001243;AK025014;AK025364;AK123851;AK128650;AK304408;AK307518;AL833377;AMYH01006696;BC069387;BX648470;BX648766;CH471082;CR936716;H05069;NG_027782;NM_001018088;NM_017684;NM_018080;NM_020821 AAH69387;BAA90972;BAA92659;BAC87549;BAG53972;BAG65241;CAE75582;CAE75583;CAF25187;CAF25188;EAW77599;EAW77600;EAW77601;EAW77602;EAW77603;EAW77604;EAW77605;EAW77606;EAW77607;NP_001018098;NP_060154;NP_060550;NP_065872;Q709C8 Hs.511668 1644991;1653403;1680551;1700130;1704790;1739415;2182802;5015861;5017495;7185938 AFMB317XG9;D10S16;D15S872E;G17875;RH103678;RH92101;SHGC-79862;VPS13C;WI-14756 DKFZp686E0570;FLJ21361 OTTHUMP00000163686;vacuolar protein sorting 13C;vacuolar protein sorting 13c (yeast);vacuolar protein sorting-associated protein 13C APPROVED protein-coding ENSG00000129003 23594 12323 608879 REVIEWED 1345721 VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] 20 20 20 p13 2882628 2909733 + 2769373 2795380 + 2821373 2847378 + 1580863;6480464 15489334;14702039;12477932;11780052;11382755;11250079;18552835;19109425;16203730;22939629;21139048;21890473;21906983;21987572;18799622;22505724 64601 Q5JUA8;Q5JUA9;Q5JUB0;Q9H269 ABBA01053799;AF308801;AK055787;AL161656;AL834401;AMYH01011672;BC012422;BC021291;BC030571;BC044662;BC064406;BC073959;BC126431;CH471133;NM_022575;NM_080413 AAG34678;AAH12422;AAH21291;AAH64406;AAH73959;AAI26432;BAB71013;CAD39063;EAX10564;EAX10565;EAX10566;NP_072097;NP_536338;Q9H269 Hs.269577 1761573;2134405;5021500 RH66062;SHGC-145577;SHGC-30809 hVPS16 OTTHUMP00000030047;OTTHUMP00000030048;vacuolar protein sorting 16 (yeast);vacuolar protein sorting 16 homolog (S. cerevisiae);vacuolar protein sorting 16 homolog A (S. cerevisiae);vacuolar protein sorting protein 16;vacuolar protein sorting-associated protein 16 homolog APPROVED protein-coding ENSG00000215305 14584 12259 608550 REVIEWED 1323077 VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] 15 15 15 q14-q15 17954509 17964054 + 38973920 38983465 + 41186628 41196173 + 1580863;6480464 17353931;17081983;16996030;16203730;15489334;14623309;12477932;11382755;11250079;10819331;20562859;18552835;18799622;19109425;21450827;22939629;21139048;22589738;22761998 57617 H0YLM6;H0YMC9;Q9P253 AB040908;ABBA01038428;AC025166;AF308802;AL713725;AMYH01006566;BC001513;CH471125;NM_020857 AAG34679;AAH01513;ABM83678;ABM86974;BAA95999;CAD28515;EAW92461;EAW92462;EAW92463;EAW92464;EAW92465;NP_065908;Q9P253 Hs.23876 2125121 STS-AA037759 KIAA1475;PEP3 OTTHUMP00000160630;hVPS18;vacuolar protein sorting protein 18;vacuolar protein sorting-associated protein 18 homolog APPROVED protein-coding ENSG00000104142 15972 09776 608551 REVIEWED 1603949 VPS25 vacuolar protein sorting 25 homolog (S. cerevisiae) This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013] 17 17 17 q21.31 37581441 37587604 + 38178980 38185143 + 40925454 40931617 + 6480464;6907045 16371348;16189514;15755741;15511219;15489334;15007060;14519844;14505570;12477932;11278625;16730941;19686684;17207965;19913121;20628086;11031247;15218037;22863883;22939629;21963094;21139048;21890473;21906983;21543492;16973552;18539118;17010938;22053931 84313 K7EKV4;K7ENE3;K7EP45;Q9BRG1 AB014763;ABBA01006408;AC100793;AK312092;AMYH01008398;BC006282;BU630023;CH471152;NM_032353 AAH06282;ADQ32783;BAB87804;BAG35028;EAW60879;EAW60880;NP_115729;Q9BRG1 Hs.500165 1685133;2133724;2171562;2191605 D17S1199;D7S2800;MARC_27470-27471:1034353500:1;RH66580 DERP9;EAP20;FAP20;MGC10540 ELL-associated protein of 20 kDa;ESCRT-II complex subunit VPS25;dermal papilla-derived protein 9;hVps25;vacuolar protein-sorting-associated protein 25 APPROVED protein-coding ENSG00000131475 28122 14396 610907 REVIEWED 1603929 VPS26B vacuolar protein sorting 26 homolog B (S. pombe) 11 11 11 q25 131267426 131290549 + 133599771 133622896 + 134094561 134117686 + 6480464 11102511;16190980;15489334;12477932;22939629;21139048;22354992;21920005 112936 H0YCI7;Q4G0F5 ABBA01031113;ABBA01031114;AF452718;AMYH01004146;AP000859;BC007799;BC009747;BC013255;BC014128;BC098386;CD369199;CH471065;NM_052875 AAH09747;AAH14128;AAH98386;AAP13353;ABW03510;ABW03822;EAW67825;EAW67826;EAW67827;NP_443107;Q4G0F5 Hs.334684 1684026;1686786;1740155;2121654;2144307;2147884 A003B43;A004P16;Cda16f12;D11S4071;RH12238;RH65284 MGC10485;Pep8b OTTHUMP00000235414;OTTHUMP00000235415;vacuolar protein sorting-associated protein 26B;vesicle protein sorting 26B protein-coding ENSG00000151502 28119 14395 610027 VALIDATED 1315210 VPS28 vacuolar protein sorting 28 homolog (S. cerevisiae) This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] 8 8 q24.3 145619808 145624735 - 145649000 145653927 - 1580863;6480464;6907045 11134028;15509564;15489334;15240819;14702039;12892785;12857913;12663786;12477932;11916981;11591653;15218037;16189514;14519844;20708039;12588984;16169070;18077552;19060904;19524996;16778200;11031247;21543492;21757351;20360068;21139048;14505570;16004603;18539118;15342556;17853893;17940959;19738201;21596998;21963094;23000965;16940516;17982468;18005716;21762798;22004035;22405001;23027949 51160 E9PI55;E9PJY2;E9PLM9;E9PM90;E9PQR7;E9PR04;Q548N1;Q9UK41 ABBA01005205;AC233992;AF182844;AF205589;AF316887;AF445417;AK026865;AK090942;AK091979;AK310062;AMYH01019153;BC006485;BC019321;BC050438;BC050712;BC050713;BP380505;BU658837;CH471162;N31929;NG_029456;NM_016208;NM_183057;R72904 AAF00499;AAH06485;AAH19321;AAH50713;AAK00314;AAQ04641;ADZ15838;EAW82094;EAW82095;EAW82096;EAW82097;EAW82098;EAW82099;EAW82100;NP_057292;NP_898880;Q9UK41 Hs.418175 1683823;2165922;2191455;5015861;7185938 A006J21;D10S16;MARC_23623-23624:1027527533:1;RH16000 MGC60323 ESCRT-I complex subunit VPS28;H-Vps28;OTTHUMP00000228917;OTTHUMP00000228919;OTTHUMP00000228927;OTTHUMP00000228928;vacuolar protein sorting 28 (yeast);vacuolar protein sorting-associated protein 28 homolog;yeast class E protein Vps28p homolog APPROVED protein-coding ENSG00000160948 18178 11675 611952 REVIEWED 1343417 VPS26A vacuolar protein sorting 26 homolog A (S. pombe) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 10 10 q21.1 70553914 70602623 + 70883908 70932617 + 1298632;1580863;6480464 9653160 15247922;11102511;17101778;16784798;16732284;16407403;16315276;16190980;15489334;15282546;15164054;14702039;12477932;11598206;11042152;1638986;19531583;22610502;22863883;22939629;16196087;21875946;18781797;19322201;20619655;20682791;22354992;21139048;21890473;21906983;21963094;21874001;21920005;22284051;22053931 9559 F5H4L7;G3V1N8;O75436 ABBA01019600;ABBA01019601;ABBA01019602;AF054179;AF175266;AK022992;AK290536;AK297142;AK309021;AK315496;AL110166;AL442635;AL596223;AMYH01002806;BC022505;BQ048905;BX647725;BX649092;CD358963;CH471083;NM_001035260;NM_004896 AAC39912;AAF89954;AAH22505;ACE86963;ACE87653;BAB14351;BAF83225;BAG37880;BAG59643;EAW54311;EAW54312;EAW54313;NP_001030337;NP_004887;O75436 Hs.499925 1645066;1701540;2113638;2172833;2183651;5014740;5093202 A009J19;D17S610;G32580;RH104403;RH11330;UniSTS:478961;WI-11750 FLJ12930;HB58;Hbeta58;PEP8A;VPS26 OTTHUMP00000019721;hVPS26;vacuolar protein sorting 26 (yeast);vacuolar protein sorting-associated protein 26A;vesicle protein sorting 26A APPROVED protein-coding ENSG00000122958 12711 08385 605506 REVIEWED 1318040 VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms, and usage of multiple polyadenylation sites have been found for this gene. [provided by RefSeq, Jul 2008] 12 12 q24 109413713 109424299 - 110929330 110939916 - 1580863;6480464 17891154;17101778;16737443;16381901;15788412;15489336;15489334;15282546;15247922;12477932;11256614;11230166;11102511;11076863;11062004;9700157;16169070;22354992;19531583;22863883;21832049;22939629;21629666;20923837;21900206;21906983 51699 F8VXU5;Q05DG7;Q9UBQ0 AB578890;AB578891;AB578892;AB618733;ABBA01005110;AC002350;AF086379;AF168716;AF175264;AF193795;AF201936;AF201946;AK000499;AK129767;AK130510;AL136614;AL832866;AMYH01004743;BC000880;BC015095;BC017964;BC032462;BC095446;BG707325;CH471054;CR457182;CR533468;NM_016226;NM_057180 AAF04596;AAF17238;AAF86872;AAF87318;AAF89952;AAH00880;AAH15095;AAH32462;AAH95446;BAJ83889;CAB66549;CAG33463;CAG38499;CAI46196;CAL37713;EAW97918;EAW97919;NP_057310;NP_476528;Q9UBQ0 Hs.600114 1679870;1774585;5015881;5022576;5037552 D1S1361;D8S2279;GDB:335751;RH47395;RH80970 DC15;DC7;DKFZp564F0223;FLJ20492;PEP11 OTTHUMP00000241436;OTTHUMP00000241437;OTTHUMP00000241439;PEP11 homolog;hVPS29;retromer protein;vacuolar protein sorting 29 (yeast);vacuolar protein sorting-associated protein 29;vacuolar sorting protein VPS29/PEP11;vesicle protein sorting 29;x 007 protein APPROVED protein-coding ENSG00000111237 14340 09499 606932 REVIEWED 731826 VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] 12 12 12 q24.31 122305460 122340912 - 121282047 121317021 - 122716094 122751068 - 1580863;6480464 15790593;15489334;15342556;14702039;12538872;12477932;11382755;11250079;8996080;16203730;20562859;19109425;22939629;21139048;21890473;21906983;22203954;18552835;22053931 65082 F5H2X5;F5H6Y0;F5H7N5;Q96AX1 ABBA01060475;AC048338;AF439857;AK026048;AK026840;AK315545;AMYH01004825;BC016617;BI551252;BP199163;CH471054;NM_022916 AAH16617;AAL33577;ABW03704;BAB15336;BAB15570;BAG37923;EAW98319;NP_075067;Q96AX1 Hs.592009 1672357;1675243;1739227;1773766;2165022;5015861;5093036;7185938 A009E34;D10S16;D6S1375;G32482;RH44549;SGC34693;STS-R99269 FLJ22395;FLJ23187 OTTHUMP00000239751;OTTHUMP00000239752;hVPS33A;vacuolar protein sorting 33A;vacuolar protein sorting protein 33a;vacuolar protein sorting-associated protein 33A APPROVED protein-coding 18179 15651 610034 VALIDATED 732726 VPS33B vacuolar protein sorting 33 homolog B (yeast) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] 15 15 q26.1 89342778 89366837 - 91541774 91565833 - 730029;1599749;1580863;6480464;7240710 8996080;15052268 15790593;19274792;18474358;18367154;18347289;16344560;16189514;16123220;15489334;14702039;12477932;11250079;10894945;18552835;19109425;23002115;21832049;22939629;21900206;21139048;21890473;21906983;22318606;22677173;22753090 26276 B3KQF6;F5H008;G3V3F9;Q9H267 ABBA01053075;AC068831;AF201694;AF308803;AJ713428;AK027754;AK074863;AK293688;AK300608;AK308480;AK315721;AL357472;AMYH01006924;BC016445;CH471101;CQ783712;DA020491;NG_012162;NM_018668 AAF91174;AAG34680;AAH16445;BAB55345;BAG52018;BAH11570;BAH13313;CAB93109;CAF86824;EAX02139;EAX02140;NP_061138;Q9H267 Hs.745007 2134509;2144489 RH44068;WI-22047 FLJ14848 OTTHUMP00000194751;OTTHUMP00000246709;hVPS33B;vacuolar protein sorting 33B;vacuolar protein sorting homolog r-vps33b;vacuolar protein sorting-associated protein 33B APPROVED protein-coding ENSG00000184056 12712 10541 208085;608552 REVIEWED 1349183 VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae) 7 7 7 q11.23 68560386 68564652 + 72720110 72724376 + 73082174 73086440 + 6907045;6480464 15218037;12477932;11031247;23505323;17853893 155382 C9JYT9;Q86XT2 ABBA01063942;AC073846;AMYH01017537;AY081952;BC029730;BC064621;CH471200;NM_001077621 AAH64621;AAI56355;AAI57107;AAL91075;EAW69659;NP_001071089;Q86XT2 Hs.647037 MGC35352;WBSCR24 ESCRT-I complex subunit VPS37D;OTTHUMP00000211797;Williams Beuren syndrome chromosome region 24;Williams-Beuren syndrome critical region protein 24;vacuolar protein sorting 37D;vacuolar protein sorting-associated protein 37D;williams-Beuren syndrome chromosomal region 24 protein;williams-Beuren syndrome region protein 24 protein-coding ENSG00000176428 18287 610039 VALIDATED 1320260 VPS36 vacuolar protein sorting 36 homolog (S. cerevisiae) VPS36, VPS22 (SNF8; MIM 610904), and VPS25 (MIM 610907) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. VPS36, VPS22, and VPS25 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM, Mar 2008] 13 13 13 q14.3 33972434 34010460 + 51884738 51922764 - 52986737 53024763 - 6480464;6907045 21145461;16973552;18539118;17057716;16371348;15755741;15489334;15057823;14702039;14519844;14505570;12477932;11278625;10810093;11031247;15218037;22863883;22939629;21139048;21890473;19322201;20682791;21543492;17010938 51028 Q59H03;Q86VN1 AB208956;ABBA01006537;ABBA01006538;ABBA01006539;AF151903;AI352102;AK022911;AK023182;AK289740;AL359513;AMYH01005122;BC037279;BC050439;BG400860;BX537689;BX647847;CH471274;CR933653;NM_016075 AAD34140;AAH37279;AAH50439;BAB14451;BAD92193;BAF82429;CAI45953;EAW55895;NP_057159;Q86VN1 Hs.109520 1668874;1853120;2111150;2139063;5037552 A002M11;D13S298;D8S2279;RH183;SGC32898 C13orf9;CGI-145;DKFZp781E0871;EAP45 ELL-associated protein of 45 kDa;ELL-associated protein, 45 kDa;ESCRT-II complex subunit VPS36;OTTHUMP00000018449;chromosome 13 open reading frame 9;vacuolar protein-sorting-associated protein 36 APPROVED protein-coding ENSG00000136100 20312 12620 610903 VALIDATED 1604528 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] 8 8 8 p22 16070442 16121576 + 17148851 17197418 + 17104401 17155533 + 6480464;6907045 17903302;15509564;15240819;15218037;14702039;14623289;12477932;9875212;18029348;17207965;11031247;21832049;22016507;20654576;21139048;21906983;22717650;21757351;16004603;22318606;22405001 137492 E5RG91;E5RHB8;E5RJ10;E5RJX6;H0YBN0;Q8NEZ2 ABBA01021585;AC091050;AC124074;AC142097;AF547097;AK057204;AK090607;AK124607;AMYH01018545;AY033079;BC022363;BC067754;CH471080;NG_032996;NM_001145152;NM_152415 AAH22363;AAH67754;AAK54349;AAQ12067;ADQ31942;BAB71381;BAG54057;EAW63817;EAW63818;EAW63819;NP_001138624;NP_689628;Q8NEZ2 Hs.343873 1683884;1684692;1794218;1794220;2132101;2148971;2152026;5093152 A008M23;A009H32;G32551;PMC310830P26;PMC310830P27;RH40514;RH99119;STS-H02020 FLJ32642;FLJ42616;HCRP1;PQBP2;SPG53 ESCRT-I complex subunit VPS37A;OTTHUMP00000161346;OTTHUMP00000225268;hVps37A;hepatocellular carcinoma related protein 1;hepatocellular carcinoma-related protein 1;polyglutamine binding protein 2;vacuolar protein sorting 37A;vacuolar protein sorting-associated protein 37A protein-coding ENSG00000155975 24928 13410 609927;614898 REVIEWED 1605953 VPS37B vacuolar protein sorting 37 homolog B (S. cerevisiae) 12 12 12 q24.31 122941170 122971994 - 121915835 121946665 - 123349875 123380712 - 6480464;6907045 15218037;14702039;12477932;15240819;20379614;11031247;22939629;21139048;21906983;17853893;19531213;19542561;21762798;22004035;22405001;23027949;19129479 79720 F5H1F6;F5H4M0;Q9H9H4 ABBA01060444;ABBA01060445;ABBA01060446;AC027290;AK022812;AMYH01004834;AMYH01004835;BC005882;BU629695;CH471054;NM_024667 AAH05882;BAB14255;EAW98348;EAW98349;EAW98350;EAW98351;NP_078943;Q9H9H4 Hs.507162 1676576;1678159;1851398 BCD1833;RH80051;RH98647 FLJ12750 ESCRT-I complex subunit VPS37B;OTTHUMP00000239379;OTTHUMP00000239380;OTTHUMP00000239381;hVps37B;vacuolar protein sorting 37B;vacuolar protein sorting-associated protein 37B protein-coding ENSG00000139722 25754 07794 610037 VALIDATED 1605989 VPS37C vacuolar protein sorting 37 homolog C (S. cerevisiae) VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008] 11 11 11 q12.2 58257905 58289087 - 60654304 60685492 - 60897728 60928916 - 6480464;6907045 15509564;14702039;12477932;19773279;20379614;11031247;15218037;21832049;20360068;21139048;21757351;17853893;18029348;23314748 55048 A5D8V6;F5H4Q5 ABBA01003191;AK000854;AK097326;AK302384;AL834261;AMYH01003669;AMYH01003670;AP000437;BC005805;BC062604;BC141827;BC142702;BM450171;CH471076;CR457250;NM_017966 A5D8V6;AAI41828;AAI42703;BAA91399;BAG63701;CAD38936;CAG33531;EAW73925;EAW73926;EAW73927;NP_060436 Hs.523715 2129066;2179681 RH12137;SHGC-31731 FLJ20847 ESCRT-I complex subunit VPS37C;OTTHUMP00000236974;OTTHUMP00000236975;hVps37C;vacuolar protein sorting 37C;vacuolar protein sorting-associated protein 37C APPROVED protein-coding ENSG00000167987 26097 15652 610038 VALIDATED 1350372 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008] 16 16 q12 45251090 45280645 - 46693589 46723144 - 1300445;1580863;6480464 11112353 11102511;11256614;17891154;17101778;16381901;16344560;15489336;15489334;15282546;15247922;14702039;12477932;11230166;11076863;11062004;9110174;8889548;8619474;8125298;17916227;17353931;23411763;23455922;23463506;22517097;20619655;16190980;17215244;19531583;19553991;19615732;20164305;16335966;21763482;21763483;22863883;21832049;22939629;20923837;21849449;21875946;22154191;16196087;20000738;21822266;18781797;21733561;21903422;23125461;23408866;21515373;21139048;21890473;21906983;19322201;22354992;17620599;22278960;22336192;18029348;21319273;22410496;22513087;19874558;22284051;22673115;15231748;19738201;21988832;22623428;23452853;22801713;22053931;22797925;22673036;22891780;20301402;22991136 55737 H3BRJ7;I3L4P4;I3L4S0;Q9NX80 ABBA01013771;ABBA01013772;AC007225;AC012186;AF086051;AF175265;AF183418;AF186382;AF191298;AK000395;AK001614;AK023650;AK025774;AK223218;AL136888;AL512769;AMYH01007641;AY007112;BC002414;BC010362;BC041367;BC093036;BM971213;BQ574179;BX647213;CH471092;DB049686;NG_029970;NM_018206 AAF02778;AAF89953;AAG01989;AAG09687;AAG40619;AAH02414;AAH10362;AAH93036;BAA91137;BAA91790;BAB14626;BAD96938;CAB66822;CAC21686;CAI46268;CAL38615;EAW82683;EAW82684;NP_060676;Q96QK1 Hs.454528 1684331;2118454 D16S3222;RH79844 DKFZp434E1211;DKFZp434P1672;FLJ10752;FLJ13588;FLJ20388;MEM3;PARK17 OTTHUMP00000163364;hVPS35;maternal-embryonic 3;vacuolar protein sorting-associated protein 35;vesicle protein sorting 35 APPROVED protein-coding 13487 06085 601501;614203 REVIEWED 1312537 VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. [provided by RefSeq, Jul 2008] 15 15 15 q15.1 19218602 19268201 - 40238191 40287794 - 42450899 42500502 - 1580863;6480464 21319273;16381901;15489336;15489334;12941698;12477932;12168954;11448994;11230166;11076863;9872452;19913121;20628086;19109425;20363736;23022380;21454559;22939629;23418473;21139048;21906983;23167963;18552835;18799622 23339 H3BTU0;Q96JC1 AB018313;ABBA01038379;ABBA01038380;ABBA01038381;AC036103;AF280814;AF281052;AF334400;AK025334;AK074193;AK128403;AL117456;AMYH01006580;BC015817;BC068559;BX537404;CH471125;NM_015289 AAH15817;AAH68559;AAK58862;AAK72222;AAQ05978;BAA34490;BAG54672;CAD97646;CAL37416;CAL38644;EAW92535;EAW92536;EAW92537;EAW92538;EAW92539;NP_056104;Q96JC1 Hs.88025 1661167;1687812;1690027;1736502;1775222;2124943;2169928;2182063;2183584;2183586;2185394;5023664 A002O28;A008B09;D15S1187;D15S1198;D15S708E;D15S793;D15S802;D15S897;RH46885;RH79193;RH93569;STS-H78300 FLJ21681;FLJ46546;KIAA0770;TLP;VAM6;hVam6p OTTHUMP00000161027;TRAP1-like protein;vam6/Vps39-like protein APPROVED protein-coding ENSG00000166887 20593 10300 612188 REVIEWED 1353898 VPS41 vacuolar protein sorting 41 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008] 7 7 7 p14-p13 38751388 38936638 - 38730068 38915325 - 38763543 38948800 - 1580863;6480464 12853948;12477932;11412045;10559961;9847074;9159129;7596406;19690564;19109425;19734545;19850127;20379614;21832049;22939629;21139048;21890473;21906983;22323726;15231748;20434987;22939624;23167963;18799622;23322049 27072 C9J2U9;C9J3F8;C9JU58;C9JZ11;E9PF36;H7BXH3;H7BZX6;H7C0K2;P49754 AACC02000036;ABBA01056931;AC004850;AC005247;AK026848;AK074325;AK299143;AK314556;AMYH01017189;BC044851;BX648347;CH236951;CH471073;L40398;NM_014396;NM_080631;U87281;U87309 AAB47563;AAB47758;AAC42004;AAH44851;AAQ96883;AAS00372;AAS00373;ADR82667;BAG37141;BAG61195;EAW94113;EAW94114;NP_055211;NP_542198;P49754 Hs.592184 1336724;1654078;1661443;1671546;1695880;1717287;1753411;1768203;1771115;7186141 D7S2507;GDB:1317280;GDB:1318016;GDB:314167;RH122058;SHGC-107203;SHGC-24379;SHGC-56039;SHGC-78828 HVPS41;HVSP41;hVps41p OTTHUMP00000135322;OTTHUMP00000135323;S53;vacuolar assembly protein 41;vacuolar protein sorting-associated protein 41 homolog APPROVED protein-coding ENSG00000006715 12713 10402 605485 REVIEWED 732193 VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008] 16 16 q22.1 67902788 67916447 + 69345287 69358946 + 4892619;6480464;6907045 19535733 16174732;17928862;18606141;17853893;11559748;11563910;18621683;17913808;17601348;17553870;16841193;16730941;15632132;15489334;15075231;14505570;14505569;12860994;12594041;12477932;12417987;11937716;11931639;10931946;10393249;16757520;19524996;19615732;19640981;19828764;20339000;20621136;20616062;14602072;20805225;21394086;11031247;21543490;20164219;22231449;20972266;21139048;21890473;22216284;17110338;23000965;23009658;17725712;19403684;20427536;21248205;21304933;21394083;21494275;21762796;21841072;22004035;22754649;22762019;19129479 27183 Q9UN37 ABBA01025526;AC026464;AF112215;AF132747;AF155740;AF159063;AF255952;AF282903;AK000200;AK025850;AK315026;AL133634;AMYH01007767;BC013021;BC035121;BC047932;CH471092;NM_013245 AAD42971;AAD49227;AAF17203;AAG01470;AAH35121;AAH47932;AAK52408;AAL75948;ACE86581;BAA91005;BAG37514;CAB63758;EAW83261;EAW83262;EAW83263;EAW83264;NP_037377;Q9UN37 Hs.128420 1672573;5015741;5109549 D20S994;D21S1698;RH69710 FLJ22197;SKD1;SKD1A;SKD2;VPS4;VPS4-1 SKD1-homolog;hVPS4;vacuolar protein sorting factor 4A;vacuolar protein sorting-associated protein 4A;vacuolar sorting protein 4 APPROVED protein-coding ENSG00000132612 13488 11676 609982 REVIEWED 732754 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] 1 1 1 q21.2 123155097 123233224 + 148305966 148384129 + 150039342 150117505 + 730029;1580863;6480464;6907045 8996080 10404641;16344560;15489334;14702039;14623309;12477932;12110575;11788822;11062261;9045632;8125298;19931244;22939629;21139048;21890473;21906983;15016378;22318606;22053931;22505724;19805454;21963094;23000965;23738510 11311 F5GYC3;F5H8K1;Q5T4Q0;Q9NRW7 ABBA01049319;ABBA01049320;ABBA01049321;ABBA01049322;AC242988;AC244033;AF165513;AJ133421;AK023170;AK223214;AK293555;AK295529;AK298786;AK298835;AK301994;AK307949;AL358073;AMYH01001373;AY453586;BC012932;BC028382;BG176899;CH471121;CR743023;DA122826;DA374440;NM_001279353;NM_001279354;NM_001279355;NM_007259;NR_103998;U35246 AAC50931;AAF86643;AAH12932;AAH28382;AAS49034;ADZ15530;BAB14443;BAD96934;BAH11533;BAH12096;BAH12870;BAH12880;BAH13603;CAB40417;CAI14265;CAI14266;EAW53584;EAW53585;NP_001266282;NP_001266283;NP_001266284;NP_009190;Q9NRW7 Hs.443750 1847735;1856185;2108641;2149927;2149929;2178565 D1S3029;D1S3132;G34838;RH11755;VPS45A_9258;WI-14283 H1;H1VPS45;SCN5;VPS45A;VPS45B;VPS54A;VSP45;VSP45A OTTHUMP00000014482;hlVps45;leucocyte vacuolar protein sorting 45;vacuolar protein sorting 45A;vacuolar protein sorting-associated protein 45;vesicular transport protein rvps45 APPROVED protein-coding ENSG00000136631 14579 10301 610035;615285 REVIEWED 1351540 VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae) This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] 11 11 11 q13 62189983 62205480 + 64620259 64635756 + 64863683 64879180 + 6480464 9615229;15489334;14702039;12477932;9286704;20685960;22939629;21139048;21890473;21900206;21906983;21987572;22053931 738 E9PJ36;E9PKE5;E9PKX7;E9PMB6;E9PQD5;E9PQN6;E9PRV0;H0YCB7;H0YDX9;H0YEE1;Q9UID3 ABBA01024136;AF024631;AK023941;AK093791;AL833818;AMYH01003716;AP003068;AW007399;BC006555;BC007198;BC009285;BC010540;BC010872;BC017438;BG391473;BI752026;BI823833;BI828867;BX401315;CD388131;CH471076;HY270070;NM_013265;NR_073519 AAF21627;AAH06555;AAH07198;AAH09285;AAH10540;AAH17438;CAD38681;EAW74347;NP_037397;Q9UID3 Hs.277517;Hs.732951 5015404;5015961;5020740;5022463;5024413;5037552;5117897 D15S1477;D3S1673;D8S2279;GDB:631813;L17705;L17809;L17877 ANG2;ANG3;C11orf2;C11orf3;FFR;FLJ13879;FLJ36472 OTTHUMP00000230395;another new gene 2 protein;fat-free homolog;protein fat-free homolog;vacuolar protein sorting-associated protein 51 homolog APPROVED protein-coding ENSG00000149823 1172 12605 REVIEWED 1314314 VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008] 18 18 q21.33 59207403 59240732 - 61056423 61089752 - 1580863;6480464;6907045 10637304;16174732;17928862;15024011;16757520;18796009;17601348;17553870;17081983;17014699;16344560;16193069;16018968;16004603;15489334;15173323;14505570;14505569;12594041;12477932;11563910;11559748;11042152;10393249;9653160;8082782;21145461;19524996;19615732;19690890;20621136;17207965;20616062;11031247;19129479;22939629;19322201;20972266;21139048;21890473;22252323;19403684;20164219;21248205;21304933;21841072 9525 K7EKZ3;K7EL71;O75351 ABBA01056216;ABBA01056217;ABBA01056218;AC036176;AF038960;AF195514;AF282904;AK290932;AK291253;AK308892;AK309322;AK311041;AMYH01009055;AY232629;BC009692;BC039574;CH471096;DA306069;NM_004869 AAC39874;AAG01471;AAG33022;AAH09692;AAH39574;AAP59551;ACE86582;ACE87266;ADQ33040;BAF83621;BAF83942;EAW63143;EAW63144;NP_004860;O75351 Hs.126550 1677164;1704356;1734572;1752501;5037552 D18S934E;D8S2279;RH99091;SHGC-106325;SHGC-78169 MIG1;SKD1;SKD1B;VPS4-2 OTTHUMP00000163679;cell migration-inducing 1;cell migration-inducing gene 1 protein;suppressor of K(+) transport growth defect 1;suppressor of K+ transport defect 1;vacuolar protein sorting 4B;vacuolar protein sorting 4b (yeast);vacuolar protein sorting-associated protein 4B APPROVED protein-coding ENSG00000119541 10895 15653 609983 REVIEWED 1604402 VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae) This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 34772418 34794017 - 33326027 33347640 - 33218049 33239662 - 6480464 15878329;15489334;14702039;14574404;12477932;12366783;12210484;10452889;9790748;8125298;19620288;18367545;19851445;22939629;21078624;21906983;20685960 6293 B0UYQ4;B4DNI9;B4DS44;E9PI03;Q8N1B4 ABBA01038138;ABBA01038139;AJ006026;AJ223319;AK001725;AK093057;AK222867;AK297935;AK299563;AK300308;AK300430;AK304080;AL031228;AL390171;AL559461;AL645940;AL713971;AL844527;AMYH01016242;AMYH01016243;AW150166;AX775737;BC032108;BC040114;BU167150;BX248408;CH471081;CR547129;CR759786;CR759817;CR762434;NM_022553 AAH32108;AAH40114;BAD96587;BAG50969;BAG60251;BAG61506;BAG62061;BAG62156;BAG64987;CAA06821;CAA11260;CAB99099;CAE11568;CAI95618;CAI95619;EAX03686;EAX03687;EAX03688;EAX03689;EAX03690;EAX03691;EAX03692;EAX03693;NP_072047;Q8N1B4 Hs.480356 1683924;2106409;2148587;2189719;5491346 D6S2761;G19781;M2_2_3;RH10585;Sacm2l ARE1;DKFZp547I194;RP5-1033B10;SAC2;SACM2L;dJ1033B10.5 OTTHUMP00000029414;SAC2 suppressor of actin mutations 2-like protein;vacuolar protein sorting-associated protein 52 homolog APPROVED protein-coding ENSG00000223501 10518 09142 603443 REVIEWED 1350552 VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae) This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008] 2 2 2 p13-p14 63964934 64091495 - 63973171 64099718 - 64119667 64246214 - 619586;1580863;6480464 12039048 21087364;18574757;15878329;15489334;14702039;12477932;12174196;19620288;18367545;20379614;20615984;19389623;20685960 51542 Q9P1Q0 ABBA01075410;ABBA01075411;ABBA01075412;AC092588;AF102177;AK002205;AK025545;AK094019;AK124436;AK292669;AK292889;AL137604;AL359939;AL514510;AMYH01010396;AW452246;AY444798;BC030275;BC041868;CH471053;CR749701;NM_001005739;NM_016516 AAF37319;AAH30275;AAH41868;AAS20945;ABM82006;ABM85188;BAA92134;BAF85358;BAF85578;CAB70837;CAB95772;CAH18479;EAW99952;NP_001005739;NP_057600;Q9P1Q0 Hs.48499 1342181;1687688;2150732;7185330 D2S147;RH46124;RH93801 HCC8;SLP-8p;VPS54L;WR;hVps54L OTTHUMP00000202089;OTTHUMP00000202090;OTTHUMP00000202091;hepatocellular carcinoma protein 8;tumor antigen HOM-HCC-8;tumor antigen SLP-8p;vacuolar protein sorting 54 (yeast);vacuolar protein sorting-associated protein 54 APPROVED protein-coding ENSG00000143952 18652 10302 614633 REVIEWED 1605366 VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae) This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008] 17 17 17 p13.3 423924 629862 - 382698 564758 - 411908 618096 - 6480464 18367545;17666431;16953216;15878329;15498874;15489334;14702039;12621583;12565177;12477932;8889548;19620288;22939629;21139048;21890473;20685960 55275 B3KS06;E7EVT8;F6VX93;G3V0H8;I3L0S6;I3L184;I3L1W6;I3L4P9;Q5VIR6 ABBA01054614;ABBA01054615;ABBA01054616;ABBA01054617;AC015853;AC027455;AF085927;AF246287;AF318335;AK001841;AK056323;AK057942;AK091388;AK092532;AK123107;AK290343;AK299543;AL701573;AMYH01007976;AY444797;BC006116;BC029560;BC039432;BC040223;CB851054;CH471108;EU021218;EU434648;EU434649;EU434650;NM_001128159;NM_018289 AAH06116;AAH29560;AAK27973;AAL55842;AAS20944;ABW03005;ACA21423;ACA21424;ACA21425;BAA91935;BAF83032;BAG52568;BAH13062;EAW90658;EAW90659;EAW90660;EAW90661;EAW90662;NP_001121631;NP_060759;Q5VIR6 Hs.461819 1339405;1672202;1675622;1739871;1758621;2132549;2133118;2167812;2182405;5015404;5015861;5016478;5020740;5020946;5021369;5022200;5022463;5022651;5024413;5024761;5037552;5037738;7185443;7185938 A006Y45;D10S16;D11S2921;D17S849;D1S2511;D1S3689;D3S1673;D8S2279;GDB:434012;L17705;L17796;L17809;L17877;L17971;L18426;RH11875;RH18545;RH36905;RH80070;SHGC-148941;STS-R19362;WI-14673 FLJ10979;FLJ41112;FLJ61757;HCCS1;MGC39512;hVps53L;pp13624 vacuolar protein sorting-associated protein 53 homolog APPROVED protein-coding ENSG00000141252 25608 07720 REVIEWED 1352238 VPS9D1 VPS9 domain containing 1 16 16 16 q24 74837975 74851643 - 88301042 88314895 - 89773541 89787394 - 10231027;16368877;12477932;18029348;19850743 9605 H3BM58;H3BNK1;H3BQI2;Q9Y2B5 AB018551;ABBA01014134;ABBA01014135;ABBA01014136;AC010538;AI458261;AMYH01007938;BC052626;BM920493;BY795348;CA428853;CH471184;NM_004913 AAI40443;AAI48702;BAA76711;EAW66694;EAW66695;EAW66696;NP_004904;Q9Y2B5 Hs.164410 5020274;5022588;5037552;5118444 D11S3316;D5S1597E;D8S2279;L18441 ATP-BL;C16orf7 ATP synthase, subunit b-like;VPS9 domain-containing protein 1;chromosome 16 open reading frame 7;hypothetical protein LOC9605;uncharacterized protein C16orf7 APPROVED protein-coding ENSG00000075399 13526 08508 VALIDATED 1346794 VRK3PS vaccinia related kinase 3 pseudogene 369009 23021 1342732 VRNI vitreoretinopathy, neovascular inflammatory 7240710 7445 12720 7247360 VPS9D1-AS1 VPS9D1 antisense RNA 1 12477932;14702039 100128881 ABBA01014134;ABBA01014135;ABBA01014136;AC010538;AK096286;AMYH01007938;BC061904;NR_036480 Hs.666282 miscrna ENSG00000261373 48915 VALIDATED 1314551 VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae) The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 1 1 1 q21 124264225 124277931 - 149415558 149429264 - 151148776 151162689 - 1580863;6480464 16189514;7702631;17567994;16710414;15647280;15489334;12477932;8125298;14966270;22939629;18218781;20946988;22467210;21693764;18239623;19471022;19322201;22096247;7664828;8889549;16230350 6944 Q15906 AA128103;ABBA01049381;ABBA01049382;AK222935;AK222939;AK225130;AK297565;AK310045;AL592424;AMYH01001386;AW194498;BC003151;BT019356;BT019357;BU539181;CH471121;CT003766;CX163016;D43642;DQ655941;DQ656047;NM_001271087;NM_001271088;NM_005997 AAH03151;AAV38163;AAV38164;ABM83866;ABM87188;BAA07757;BAD96655;BAD96659;BAG59957;EAW53462;NP_001258016;NP_001258017;NP_005988;Q15906 Hs.2430 1696098;1773631;1805980;1818706;1819076;1824912;1924666;1924668;1924670;1924672;1924674;1924676;1924678;1924680;1924682;1924684;1924686;1924688;1924690;1924692;1924694;1924696;1924698;1924700;1924702;1924704;1924706;1924708;1924710;1924712;1924714;2106705;2130889;2207448;2207450;2207452;2207454 Cda0ge12;ECD03943;ECD10417;ECD10604;ECD13555;REN33158;REN33159;REN33160;REN33161;REN33162;REN33163;REN33164;REN33165;REN33166;REN33167;REN33168;REN33169;REN33170;REN33171;REN33172;REN33173;REN33174;REN33175;REN33176;REN33177;REN33178;REN33179;REN33180;REN33181;REN33182;RH12845;SHGC-79127;TCFL1__5229;stSG627004;stSG627005;stSG627006;stSG627007 CFL1;Swc2;TCFL1;YL-1;YL1 OTTHUMP00000014278;OTTHUMP00000196170;protein YL-1;transcription factor-like 1;transcription factor-like 1 (YL-1);transformation suppressor gene YL-1;vacuolar protein sorting-associated protein 72 homolog APPROVED protein-coding ENSG00000163159 11644 02791 600607 REVIEWED 1347101 VSIG1 V-set and immunoglobulin domain containing 1 This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] X X X q22.3 107759672 107793886 + 107174856 107209070 + 107288200 107322414 + 737633;6480464 12477932 16405301;22095633 340547 C9JY48;Q86XK7 ABBA01035969;ABBA01035970;ABBA01035971;ABBA01035972;AK292472;AK301311;AK301783;AK315846;AL031177;AL953860;AMYH01022834;AMYH01022835;BC043216;BK005767;BX640913;BX648658;CH471120;JA738621;NG_016264;NM_001170553;NM_182607 AAH43216;BAF85161;BAF98737;BAG62862;BAG63239;CAE45954;CAH56142;CCF76963;DAA05750;EAX02699;NP_001164024;NP_872413;Q86XK7 Hs.177164 5015961;5037552;5109281 D15S1477;D1S1425;D8S2279 1700062D20Rik;GPA34;MGC44287;dJ889N15.1 OTTHUMP00000023820;V-set and immunoglobulin domain-containing protein 1;cell surface A33 antigen;glycoprotein A34 APPROVED protein-coding ENSG00000101842 28675 06655 300620 REVIEWED 1603690 VPS8 vacuolar protein sorting 8 homolog (S. cerevisiae) 3 3 3 q27.2 182976573 183217415 + 186012625 186253096 + 184529931 184770402 + 6480464 16344560;15489334;15231748;14702039;12477932;9872452;20379614;21810271 23355 B3KPR6;C9JG07;C9JIA0;C9JJN9;C9JKL0;C9JP71;C9JPI1;F8WB24;H7C058;H7C1G7;H7C322;H7C3U0;H7C490;Q8N3P4 AB018347;ABBA01058429;ABBA01058430;ABBA01058431;ABBA01058432;ABBA01058433;AC025573;AC107294;AC117436;AK022945;AK056661;AK292423;AK308728;AK309244;AL833838;AMYH01013724;AMYH01013725;AMYH01013726;BC001001;BC036005;BC140768;BI914013;BX647915;CH471052;DA218768;DA340096;NM_001009921;NM_015303 AAH01001;AAI40769;BAA34524;BAB14322;BAF85112;BAG51778;CAD38698;CAH56195;EAW78233;EAW78234;NP_001009921;NP_056118;Q8N3P4 Hs.269263 1682249;1701208;1701292;1707632;1717915;1747863;1784914;1852285;2133953;2134254;5091966 G66857;RH104232;RH104275;RH122785;RH93134;SHGC-32608;SHGC-77614;SHGC-77636;SHGC-84430;SHGC-84632;WI-11224 FLJ32099;KIAA0804 OTTHUMP00000210436;OTTHUMP00000210437;OTTHUMP00000210449;vacuolar protein sorting-associated protein 8 homolog protein-coding ENSG00000156931 29122 11111 VALIDATED 3440350 VSIG10L V-set and immunoglobulin domain containing 10 like 19 19 19 q13.41 48886398 48896982 - 56526607 56537190 - 51834795 51845378 - 6480464 12477932 147645 M0R380;Q86VR7 ABBA01068275;ABBA01068276;AC008750;AC063977;AF086436;AMYH01009952;BC016993;BC032383;BC049212;BC131493;NM_001163922 AAH49212;AAI31494;NP_001157394;Q86VR7 Hs.293236 1775092 SHGC-57988 V-set and immunoglobulin domain-containing protein 10-like protein-coding ENSG00000186806 27111 PROVISIONAL 1314472 VRK1 vaccinia related kinase 1 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008] 14 14 q32 96333437 96417704 + 97263684 97347951 + 1580863;6480464;7240710 10951572;15105425;15378002;18617507;19103756;18713830;18612383;18286197;17951261;17938195;17689819;17617371;16782868;16547155;15635413;15542844;15489334;14747564;14645249;12477932;11883897;11709713;10747897;10083742;9344656;18029348;19646678;22939629;21507922;18257281;21386980;21543316;22318606;21963094;21139048;21890473;21906983;21920476;22194607;19505873;22621922;22505724;23223570;23455922 7443 H0YJ50;H0YJF7;H0YJJ9;Q99986 AB000449;ABBA01048581;AK290110;AL133168;AMYH01005980;BC005970;BC103761;BC112075;BC113510;BU535261;CA436761;CH471061;NG_016293;NM_003384 AAI03762;AAI12076;AAI13511;BAA19108;BAF82799;EAW81653;EAW81654;NP_003375;Q99986 Hs.422662 1663409;1668683;1677858;5106413 RH44891;RH48802;RH80743;SHGC-33619 MGC117401;MGC138280;MGC142070;PCH1;PCH1A OTTHUMP00000246088;serine/threonine-protein kinase VRK1;vaccinia virus B1R-related kinase 1;vaccinia-related kinase 1 APPROVED protein-coding ENSG00000100749 12718 03701 602168;607596 REVIEWED 1602403 VSIG6 V-set and immunoglobulin domain containing 6 15 15 q11.2 19963000 19963816 - 19963000 19963816 - 388078 AC010760;XM_370835 A6NJ16;XP_370835 V-set and immunoglobulin domain containing 6 protein-coding 32352 1605500 VSIG7 V-set and immunoglobulin domain containing 7 15 15 q11.2 18429923 18430368 - 20169909 20170354 - 390531 AC127381;XM_003403542;XM_003403667 A6NDP1;XP_003403590;XP_003403715 V-set and immunoglobulin domain containing 7 protein-coding 32353 MODEL 1350616 VRK3 vaccinia related kinase 3 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008] 19 19 19 q13 47348980 47398065 - 55171536 55220617 - 50479724 50528805 - 1580863;6480464 18617507;15489334;14645249;12477932;8125298;17353931;21890473;21900206 51231 B4DGW1;M0QX88;M0QXD7;M0QXV1;M0QYA8;M0QYG0;M0QZ79;M0R025;M0R073;M0R164;M0R200;M0R3H2;Q8IV63 AB031052;ABBA01032905;ABBA01032906;AC011452;AF514788;AK074461;AK123892;AK125747;AK225154;AK292918;AK294802;AK303010;AK303529;AK311220;AMYH01009920;AV706241;BC003546;BC023556;BC095449;BG421578;CH471177;NM_001025778;NM_016440 AAH23556;AAH95449;AAP47180;BAA90769;BAF85607;BAG57922;BAG64141;BAG64557;EAW52588;EAW52589;EAW52590;EAW52591;EAW52592;NP_001020949;NP_057524;Q8IV63 Hs.443330 2171964;2177476;5014051;5015619;5015959;5020229;5021872;5022200;5022578;5022651;5037552;5107715 D10S2448;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;L17770;L18426;RH66373;STS-R49148;WI-15269;sY3084 inactive serine/threonine-protein kinase VRK3;serine/threonine-protein kinase VRK3;serine/threonine-protein pseudokinase VRK3;vaccinia-related kinase 3 APPROVED protein-coding ENSG00000105053 18996 18289 REVIEWED 1607028 VSIG10 V-set and immunoglobulin domain containing 10 12 12 12 q24.23 118131984 118172906 - 116987864 117034763 - 118501398 118541810 - 6480464 16344560;14702039;12477932;21906983;19322201;23251661 54621 F5H724;Q8N0Z9 ABBA01020048;ABBA01020049;AC026366;AC131238;AK000681;AK094977;AMYH01004786;BC001437;BC028698;BC034471;CH471054;DA995625;DB174919;NM_019086 AAH28698;AAH34471;BAA91322;EAW98119;EAW98120;EAW98121;NP_061959;Q8N0Z9 Hs.187624 1781498;1782594;2147351;2147353;2177007 A005Q47;G20427;RH44532;SHGC-141508;SHGC-141509 FLJ20674;MGC1013 OTTHUMP00000239575;V-set and immunoglobulin domain-containing protein 10 APPROVED protein-coding ENSG00000176834 26078 07941 VALIDATED 1323120 VRK2 vaccinia related kinase 2 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, leukocytes, fetal liver, and carcinomas. Its protein localizes to the endoplasmic reticulum and has been shown to phosphorylate casein and undergo autophosphorylation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 p16.1 58116828 58230225 + 58127224 58240510 + 58273777 58387055 + 6480464 16963744;18286207;18617507;9344656;18612383;17709393;16704422;16344560;15489334;14645249;12477932;8125298;22889411;19571808;20936779;20679487;23105117;21791550;21139048;21906983;21963094;23000965;23102693;22752157;22949513;23449449;16495336 7444 E7ERS5;E9PBU1;Q53TU1 AB000450;ABBA01075307;ABBA01075308;AC007250;AC068193;AC073215;AJ512204;AK058199;AK223540;AK295193;AK296611;AK311205;AMYH01010374;AY228367;AY228368;AY228369;AY228370;AY228371;AY228372;BC021663;BC027854;BC036434;BI906749;CH471053;DA273734;DB227029;NG_029717;NM_001130480;NM_001130481;NM_001130482;NM_001130483;NM_006296;NR_036441;NR_049781 AAH21663;AAH27854;AAO73047;AAO73048;AAO73049;AAO73050;AAO73051;AAO73052;AAX93262;AAY14648;AAY15019;ABM81858;ABM85020;BAA19109;BAD97260;BAG59222;BAH12007;CAD54446;EAX00062;EAX00063;EAX00064;EAX00065;EAX00066;EAX00067;EAX00068;NP_001123952;NP_001123953;NP_001123954;NP_001123955;NP_006287;Q86Y07 Hs.744058 1644000;1648059;1797196;2107079;2140251;2146765 D2S2913;FANCL__7636;RH66429;RH78793;SHGC-35879;VRK2 OTTHUMP00000159702;OTTHUMP00000201223;OTTHUMP00000201224;OTTHUMP00000225744;serine/threonine-protein kinase VRK2;vaccinia virus B1R-related kinase 2;vaccinia-related kinase 2;vaccinia-related kinase-2 APPROVED protein-coding ENSG00000028116 12719 03702 602169 REVIEWED 1347442 VRTN vertebrae development associated 14 14 14 q24.3 54852482 54864028 + 73884919 73896464 + 74815166 74826711 + 6480464 21232157;18029348;15489334;12477932;14702039 55237 G3V537;Q9H8Y1 ABBA01030720;ABBA01030721;AC005519;AK001673;AK023213;AMYH01005854;BC053325;CH471061;CS300723;CX165172;NM_018228 AAH53325;BAA91826;BAB14466;CAK32387;EAW81173;NP_060698;Q9H8Y1 Hs.578167 1757193 SHGC-144610 C14orf115;FLJ10811;vertnin OTTHUMP00000245448;hypothetical protein LOC55237;vertebrae development homolog (pig);vertnin APPROVED protein-coding ENSG00000133980 20223 16593 VALIDATED 1626689 VSTM2B V-set and transmembrane domain containing 2B 19 19 19 q12 26715235 26753005 + 34708668 34747070 + 30017491 30055226 + 6480464 15057824;19240061;21441570;23568457 342865 A6NLU5 ABBA01039541;ABBA01039542;AC011474;AMYH01009673;NM_001146339 A6NLU5;NP_001139811 Hs.451618 1715635;2168345 RH119262;SHGC-33351 V-set and transmembrane domain-containing protein 2B protein-coding ENSG00000187135 33595 VALIDATED 1603819 VSIG8 V-set and immunoglobulin domain containing 8 1 1 1 q23.2 132892533 132900874 - 158090730 158099071 - 159824106 159832447 - 6480464 12477932;19615732;22990118;19380743 391123 Q5VU13 ABBA01016617;AL590560;AMYH01001448;BC132893;BC132895;NM_001013661 AAI32894;AAI32896;ADR83364;CAH71106;NP_001013683;Q5VU13 Hs.647718 1663993 RH70397 OTTHUMP00000033460;V-set and immunoglobulin domain-containing protein 8 protein-coding ENSG00000243284 32063 18404 VALIDATED 1344618 VSIG2 V-set and immunoglobulin domain containing 2 11 11 11 q24 121777547 121782286 - 124122580 124127319 - 124617370 124622109 - 1580863;6480464 9862345;15489334;15340161;14702039;12975309;12477932;20659327;17192395 23584 Q96IQ7 ABBA01031254;AF061022;AK000460;AMYH01004103;AP000866;AY358897;BC007313;BC012567;CH471065;NM_014312 AAD17522;AAH07313;AAQ89256;ABW03533;ABW03837;BAA91179;EAW67595;EAW67596;EAW67597;NP_055127;Q96IQ7 Hs.112377 1853260;2118266;2148026 RH18180;STS-R69114;WI-16853 2210413P10Rik;CTH;CTXL CT-like protein;OTTHUMP00000197171;OTTHUMP00000197172;V-set and immunoglobulin domain-containing protein 2;cortical thymocyte receptor (X. laevis CTX) like;cortical thymocyte-like protein protein-coding ENSG00000019102 17149 08390 606011 PROVISIONAL 2301112 VSTM5 V-set and transmembrane domain containing 5 11 11 11 q21 90845176 90875111 - 93191621 93236793 - 93553735 93583668 - 16554811 387804 A8MXK1;H0Y3Q1 ABBA01040039;AMYH01003960;AP001894;CH471065;DY654877;DY655155;NM_001144871 A8MXK1;EAW66922;NP_001138343 Hs.512252 1679571;1682087;1737635;1751135;2151324 D11S2057;D11S3233;RH65009;RH70426;SHGC-105037 C11orf90 OTTHUMP00000205194;Uncharacterized protein ENSP00000381277;V-set and transmembrane domain containing 5;V-set and transmembrane domain-containing protein 5;hypothetical protein LOC387804 APPROVED protein-coding 34443 VALIDATED 1354021 VSIG4 V-set and immunoglobulin domain containing 4 This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X q12-q13.3 65158305 65176692 - 65241580 65259967 - 1580863;6480464 21768202;16530040;18029348;17051150;17016562;17016555;16882875;16303743;15489334;15342556;15340161;12975309;12477932;11997108;11004523;16009265;18727628;18752851;19797726;19914289;20399148;21832049;23284715 11326 C9JTJ4;H7C062;Q9Y279 ABBA01067079;ABBA01067080;ABBA01067081;ABBA01067082;ABBA01067083;AJ132502;AK075153;AK075171;AK293215;AK297050;AK298389;AK301417;AL034397;AL542949;AL552873;AL553835;AMYH01022504;AMYH01022505;AMYH01022506;AY358341;BC010525;BP292528;BX482258;CA310184;CA405669;CH471132;CQ789678;GM881262;GM881264;HC190740;HC190742;NG_021306;NM_001100431;NM_001184830;NM_001184831;NM_001257403;NM_007268 AAH10525;AAQ88707;ABM82696;ABM85879;BAG52076;BAG56754;BAG59576;BAG60624;BAG62947;CAB51536;CAG24387;CAV28320;CAV28321;CBI69253;CBI69254;EAX05393;EAX05394;EAX05395;NP_001093901;NP_001171759;NP_001171760;NP_001244332;NP_009199;Q9Y279 Hs.8904 1648174;1665709;2108993;2142621 A004A09;DXS7023E;DXS9792;VSIG4_9263 CRIg;Z39IG Ig superfamily protein;OTTHUMP00000023439;OTTHUMP00000023441;OTTHUMP00000023442;V-set and immunoglobulin domain-containing protein 4;complement receptor of the immunoglobulin superfamily;protein Z39Ig APPROVED protein-coding ENSG00000155659 17032 02286 300353 REVIEWED 737420 VSNL1 visinin-like 1 This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 2 2 p24.3 17585288 17701187 + 17721807 17837706 + 6480464 19065602;19063970;19034380;18922787;18691652;18301774;17615261;16731532;16713569;16703469;16189514;15735716;15489334;22357717;12681369;12477932;12445467;12202488;12200122;12196554;11930147;11592857;11579136;10851344;10520747;9109541;8780737;8530085;2202488;1375457;19674972;20347265;20079378;21169352;21823155;22331379;22832524;22005930;22052372 7447 E7ER47;E9PE24;P62760 AB001104;ABBA01018508;AC079839;AC097377;AF039555;AI143139;AK308816;AMYH01010143;BC022012;BF055598;BI544338;CH471053;NM_003385;U14747 AAA91295;AAD02174;AAH22012;AAX88850;AAY24036;ABM81726;ABM84881;BAA86891;EAX00870;EAX00871;EAX00872;EAX00873;EAX00874;EAX00875;NP_003376;P62760 Hs.444212 1667049;1675595;1734868;1783972;1790239;1853084;5020629;5020631;5023733 AU048745;BMON121;D2S1414;D2S1629E;D6Arb7;D6Rat38;RH80046;SHGC-133056;SHGC-63465 HLP3;HPCAL3;HUVISL1;VILIP;VILIP-1 OTTHUMP00000115804;OTTHUMP00000200482;OTTHUMP00000200483;VLP-1;hippocalcin-like protein 3;visinin-like protein 1 APPROVED protein-coding ENSG00000163032 12722 02890 600817 REVIEWED 1604181 VSTM1 V-set and transmembrane domain containing 1 19 19 19 q13.42 51583732 51606871 - 59235891 59259019 - 54544079 54567207 - 6480464 15489334;15340161;12975309;12477932;11329013;20375307;23436183 284415 F5GZW9;G8JLN4;H7C340;Q6UX27 ABBA01068177;ABBA01068178;ABBA01068179;AC012314;AI457604;AMYH01009976;AY358542;BC100942;BC100943;BG189223;BQ446114;CH471135;DQ479397;FJ584316;FJ584317;FJ584318;FJ584319;FJ584320;FJ882051;FN398145;NM_198481 AAI00943;AAI00944;AAQ88906;ABF19807;ACU00108;ACU00109;ACU00110;ACU00111;ACU00112;ACZ51446;CAZ61324;EAW72173;NP_940883;Q6UX27 Hs.444431 1812738;1819390;1824956;1826962;1827316;1831086;1831380;1832808;1832854;1833254;1833584;1834618;1834682;1836700;1840874;1844918;2040644;2040646;2040648;2040650;2040652;2040654;2040656;2040658;2040660;2040662;2040664;2040666;2040668;2040670;2040672;2040674;2040676;2040678;2040680;2040682;2040684;2040686;2040688;2040690;2040692;2040694;2040696;2040698;2040700;2040702;2040704;2040706;2040708;2040710;2040712;2040714;2040716;2040718;2040720;2040722;2040724;2040726;2040728;2040730;2040732;2040734;2040736;2040738;2040740;2040742;2040744;2103484;2103486;2103488;2103490;2103492;2103494;2103496;2103498;2103500;2103502;2103504;2103506;2103508;2103510 ECD07380;ECD10762;ECD13577;ECD14596;ECD14773;ECD16679;ECD16826;ECD17545;ECD17568;ECD17769;ECD17936;ECD18457;ECD18489;ECD19514;ECD21630;ECD23675;REN91356;REN91357;REN91358;REN91359;REN91360;REN91361;REN91362;REN91363;REN91364;REN91365;REN91366;REN91367;REN91368;REN91369;REN91370;REN91371;REN91372;REN91373;REN91374;REN91375;REN91376;REN91377;REN91378;REN91379;REN91380;REN91381;REN91382;REN91383;REN91384;REN91385;REN91386;REN91387;REN91388;REN91389;REN91390;REN91391;REN91392;REN91393;REN91394;REN91395;REN91396;REN91397;REN91398;REN91399;REN91400;REN91401;REN91402;REN91403;REN91404;REN91405;REN91406;stSG605740;stSG605741;stSG605742;stSG605743;stSG605744;stSG605746;stSG605747;stSG605748;stSG605749;stSG605752;stSG605753;stSG605754;stSG605755;stSG605756 MGC119160;MGC119161;SIRL1;UNQ3033 LAIR homolog;OSCAR-like transcript-1;OTTHUMP00000067374;OTTHUMP00000067382;V-set and transmembrane domain-containing protein 1;signal inhibitory receptor on leukocytes-1 protein-coding ENSG00000189068 29455 15615 VALIDATED 1604199 VSTM2A V-set and transmembrane domain containing 2A 7 7 7 p11.2 54714731 54741659 + 54577513 54604442 + 54610019 54636948 + 6480464 15489334;12477932;12690205;17207965 222008 B5MCX6;F8W8J5;Q8TAG5 AACC02000089;ABBA01011843;ABBA01011844;AC069313;AMYH01017265;BC028404;BC045679;BI752069;BI755592;CH236957;CH471201;DN991717;NM_182546 AAH28404;ADQ32694;EAL23809;EAW50952;EAW50953;EAW50954;NP_872352;Q8TAG5 Hs.335933;Hs.731937 1650975;1735698;1762923;2131310;2165012;2187503;2190909 D7S2151E;D7S2824;MARC_11447-11448:1000476280:1;RH47359;SGC34528;SHGC-146677;WI-15640 MGC33530;VSTM2 OTTHUMP00000159589;OTTHUMP00000197700;OTTHUMP00000197701;V-set and transmembrane domain containing 2;V-set and transmembrane domain-containing protein 2A;hypothetical protein MGC33530 protein-coding 28499 14566 VALIDATED 1313925 VSTM2L V-set and transmembrane domain containing 2 like 20 20 20 q11.23 33238553 33280802 + 35964913 36007166 + 36531499 36573752 + 6480464 15489334;14702039;16713569;12477932;11780052;11553796;21393573 128434 F2Z3I3;Q96N03 ABBA01006631;ABBA01006632;ABBA01006633;ABBA01006634;AK056177;AL109964;AL834410;AMYH01011902;BC033818;BE905791;CH471077;NM_080607 AAH33818;ADZ15799;BAB71113;CAD39072;EAW76051;EAW76053;NP_542174;Q96N03 Hs.517029 1644026;1659575;1704650 D20S429;SHGC-77954;STS-R38512 C20orf102;dJ1118M15.2 OTTHUMP00000030945;OTTHUMP00000030947;V-set and transmembrane domain-containing protein 2-like protein protein-coding ENSG00000132821 16096 12735 VALIDATED 1348218 VSX2 visual system homeobox 2 This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009] 14 14 q24.3 73775928 73799194 + 74706175 74729441 + 734779;1580863;6480464 10932181 18029348;18648522;18514541;18385794;17661825;16236706;15909363;15647262;15257456;12508121;12477932;11069920;9847074;1973146;20565746;20414678;19638341;19843539;20057906;20494911;21976963 338917 P58304 ABBA01030724;ABBA01030725;ABBA01030726;AC005519;AC006349;AMYH01005851;AMYH01005852;AY336059;BC128153;CH471061;NG_013092;NM_182894 AAI28154;AAQ01593;EAW81163;EAW81164;NP_878314;P58304 Hs.449771 1740679;1740681 D14S1175;D14S1271 CHX10;HOX10;MCOP2;MCOPCB3;RET1 OTTHUMP00000245436;ceh-10 homeo domain containing homolog;ceh-10 homeo domain containing homolog (c. elegans);ceh-10 homeodomain-containing homolog;homeobox protein CHX10;visual system homeobox 2 APPROVED protein-coding ENSG00000119614 1975 08852 142993 REVIEWED 5687904 VTI1BP1 vesicle transport through interaction with t-SNAREs 1B pseudogene 1 3 q12.1 99944218 99944914 + 391559 ABBA01061795;AC129803;AMYH01013357;NG_022260 APPROVED pseudo 43727 INFERRED 5687891 VTI1BP2 vesicle transport through interaction with t-SNAREs 1B pseudogene 2 4 q35.1 184404503 184405569 + 9847074 389246 ABBA01070501;AC107214;AMYH01014762;NG_005181 APPROVED pseudo 43728 INFERRED 5687906 VTI1BP3 vesicle transport through interaction with t-SNAREs 1B pseudogene 3 12 q13.13 53525134 53525771 + 100127976 ABBA01008314;AC073573;AMYH01004477;NG_021720 APPROVED pseudo 43729 INFERRED 5687905 VTI1BP4 vesicle transport through interaction with t-SNAREs 1B pseudogene 4 9 131413277 131414429 + 100422540 AL356481;AMYH01021748;NG_023958 APPROVED pseudo 43730 INFERRED 1313832 VSX1 visual system homeobox 1 The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 20 20 p11.21 25004099 25010767 - 25051521 25063015 - 1599773;1580863;6480464;7240710 11978762 10673340;19507099;19011015;18626569;18484309;18253095;18216574;17960127;17122109;16799019;16384943;15647262;15623752;15489334;15051220;12477932;11780052;10903837;8889548;22531431;20664914;19763142;19956409;20023586;20379614;21139977;21365019;21403853;21437200;21976959;22171159;23506487 30813 Q0GM65 ABBA01048732;AF176797;AF251033;AF251034;AL080312;AMYH01011788;BC126228;BC136497;BM680858;BM712470;CH471133;DQ854807;DQ854808;DQ854809;DQ854810;DQ854811;DQ854812;NG_008101;NM_001256271;NM_001256272;NM_014588;NM_199425;NR_045948;NR_045951 AAF37425;AAF99656;AAF99657;AAI26229;AAI36498;ABI23973;ABI23974;ABI23975;ABI23976;ABI23977;ABI23978;EAX10104;EAX10105;NP_001243200;NP_001243201;NP_055403;NP_955457;Q9NZR4 Hs.274264 CAASDS;KTCN;KTCN1;PPCD;PPD;RINX OTTHUMP00000030468;OTTHUMP00000205188;OTTHUMP00000205189;OTTHUMP00000205190;OTTHUMP00000205191;OTTHUMP00000205192;homeodomain protein RINX;retinal inner nuclear layer homeobox protein;transcription factor VSX1;visual system homeobox 1;visual system homeobox 1 homolog, CHX10-like APPROVED protein-coding ENSG00000100987 12723 09232 122000;148300;605020;614195 REVIEWED 1348253 VTNR vitronectin receptor 7449 12725 1351150 VTRNA1-1 vault RNA 1-1 Vaults are large cytoplasmic ribonucleoproteins of about 13 MD. They are composed of a major vault protein, MVP (MIM 605088), 2 minor vault proteins, TEP1 (MIM 601686) and PARP4 (MIM 607519), and a nontranslated RNA component, VTRNA1-1 (Kickhoefer et al., 1999 [PubMed 10551828]).[supplied by OMIM, Mar 2009] 5 5 q31.3 136167609 136167706 + 140090861 140090958 + 19298825;10551828;9535882;19491402;21555518 56664 ABBA01026422;AC116353;AF045143;AMYH01015661;BD247418;NR_026703 HVG1;VAULTRC1;VR1;hvg-1;vRNA APPROVED miscrna ENSG00000199990 12654 612695 PROVISIONAL 1347664 VTRNA1-2 vault RNA 1-2 5 5 q31.3 136175259 136175346 + 140098511 140098598 + 19298825;9535882;19491402;21555518;10551828 56663 ABBA01026422;AC116353;AF045144;AMYH01015661;BD247419;NR_026704 HVG2;VAULTRC2;VR2;hvg-2 miscrna ENSG00000202111 12655 612696 PROVISIONAL 1347028 VTRNA1-3 vault RNA 1-3 5 5 q31.3 136182493 136182580 + 140105744 140105831 + 19298825;9535882;19491402 56662 ABBA01026422;AC116353;AF045145;AMYH01015661;NR_026705 HVG3;VAULTRC3;VR3;hvg-3 miscrna ENSG00000202515 12656 612697 PROVISIONAL 2292049 VTRNA3-1P vault RNA 3-1, pseudogene X X X p11.22 57320715 57320815 + 53489151 53489251 + 53489151 53489251 + 9535882;19298825;12758122;19839995;19491402;10551828 100144435 ABBA01056419;AC233728;AMYH01022423;BD247421;NG_007501;Z97054 2185623 DXS9723 FLJ20516;HVG4;HVGX;VAULTRC4;VTRNA3P;hvg-4 APPROVED pseudo 23027 INFERRED 1321317 VSTM4 V-set and transmembrane domain containing 4 10 10 10 q11.23 43807921 43909146 - 49896258 49993565 - 50222333 50323559 - 6480464 16344560;15489334;14702039;12477932;16385451;20379614;21294900 196740 Q8IW00 ABBA01041076;ABBA01041077;ABBA01047231;AC060234;AC084727;AK001062;AK021993;AK056299;AK297931;AL080114;AMYH01002640;AMYH01002641;AMYH01002642;BC017010;BC041414;CH471187;DA176757;DA920289;NM_001031746;NM_144984 AAH41414;BAB71142;BAG60248;EAW93115;EAW93116;NP_001026916;NP_659421;Q8IW00 Hs.522928 1647872;1656633;1693812;1760247;2150405;2167283;5022200;5037552;5109362 D10S2216;D10S2381;D17S1239;D8S2279;L18426;RH48264;SHGC-132546;SHGC-35721;SHGC-56414 C10orf72;FLJ31737;MGC44086 OTTHUMP00000019569;OTTHUMP00000019570;V-set and transmembrane domain-containing protein 4;hypothetical protein LOC196740 APPROVED protein-coding ENSG00000165633 26470 08503 VALIDATED 1606221 VTCN1 V-set domain containing T cell activation inhibitor 1 This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to receptors on the surface of T cells. Studies have shown that high levels of the encoded protein has been correlated with tumor progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 1 1 p13.1 117487732 117555072 - 117686209 117753582 - 6480464 21478111;19116933;18676826;18376314;17509674;17498784;17051145;16798883;16785496;16606666;16344560;15878339;15146197;14568939;12975309;12920180;12818166;12818165;12796776;12477932;8125298;22530960;21748517;20731031;20872810;19788399;19903360;19955922;20725832;19954668;20499308;22910694;21519829;22323440;21378130;21190056;16782226;20038306;23455497;22013483;21120594;23147549;22613410 79679 Q5T2L0;Q7Z7D3 ABBA01068499;AI686571;AK026071;AK225413;AK303466;AK310812;AL391476;AMYH01000972;AY280972;AY346100;AY358352;AY442303;BC065717;BC074729;BX648021;CH471122;CN259811;DB198367;DC347131;DQ103757;DQ836392;NM_001253849;NM_001253850;NM_024626;NR_045603;NR_045604 AAH65717;AAH74729;AAP37283;AAQ24206;AAQ88718;AAS13400;AAZ17406;ABI16083;BAB15349;BAH13967;EAW56671;EAW56672;EAW56673;NP_001240778;NP_001240779;NP_078902;Q7Z7D3 Hs.546434 1655018;1693234;2135902;2159720;2178570 AL009459;AL033564;DXS7636;SHGC-1545;SHGC-75394 B7-H4;B7H4;B7S1;B7X;B7h.5;FLJ22418;PRO1291;RP11-229A19.4;VCTN1 B7 family member, H4;B7 superfamily member 1;OTTHUMP00000013947;OTTHUMP00000013948;T cell costimulatory molecule B7x;T-cell costimulatory molecule B7x;V-set domain-containing T-cell activation inhibitor 1;immune costimulatory protein B7-H4 APPROVED protein-coding ENSG00000134258 28873 06429 608162 VALIDATED 1312819 VTA1 vesicle (multivesicular body) trafficking 1 C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008] 6 6 6 q24.1 143208886 143282564 + 142510103 142583778 + 142468410 142542085 + 6480464;6907045 16189514;15644320;15489334;15173323;14702039;12477932;11984006;11489251;11230166;11042152;9110174;8619474;21060863;16777077;20358264;21832049;22939629;11031247;22863883;17261583;21543490;19129479;20164219;21139048;19322201;16730941;20881960;23105106;19738201;20368287;21988832;23400010;19129480 51534 E7ETQ7;Q5TGM0;Q9NP79 ABBA01025757;ABBA01025758;AF060225;AF141341;AF151062;AF271994;AJ420507;AK000051;AK130738;AK301376;AL033522;AL136684;AMYH01016716;AMYH01016717;AY007093;BC005937;BC006989;BC013217;BC022536;CH471051;CR457207;NM_016485 AAF36148;AAF76210;AAG43125;AAG49444;AAH05937;AAH06989;AAH22536;ABM84446;ABM87503;BAA90909;BAG62917;CAB66619;CAG33488;EAW47883;EAW47884;EAW47885;NP_057569;Q9NP79 Hs.431367 1701286;1721963;1723661;2143274;2150394;2157238;2164151;2178762;5108188 A004F48;D6S1181E;D6S1192E;G30318;G59867;RH104272;RH118728;RH46769;RH46840 C6orf55;DRG-1;DRG1;FLJ27228;HSPC228;LIP5;My012;SBP1 LYST-interacting protein 5;OTTHUMP00000017318;OTTHUMP00000017319;SKD1-binding protein 1;Vps20-associated 1 homolog;chromosome 6 open reading frame 55;dopamine-responsive gene 1 protein;homolog of mouse SKD1-binding protein 1;vacuolar protein sorting-associated protein VTA1 homolog APPROVED protein-coding ENSG00000009844 20954 09855 610902 PROVISIONAL 736863 VTI1A vesicle transport through interaction with t-SNAREs 1A 10 10 10 q25.2 107934279 108306193 + 114196746 114568493 + 114206756 114578503 + 1580863;6480464 15215310;19138172;19023099;17975119;16344560;15489334;12477932;11839770;9446565;11101518;21076409;16385451;20379614;19224922;21892161;12938929;21139048;21906983;21988832;23000965;23143601;23412934;22190034;18195106 143187 Q96AJ9 ABBA01063002;ABBA01063003;ABBA01063004;ABBA01063005;AC022018;AI610960;AI797732;AK303646;AL133323;AL139120;AL158212;AL512270;AMYH01003075;AMYH01003076;BC017052;BC067241;BI909044;CH471066;DA324398;DA472521;NM_145206 AAH17052;ADZ15820;BAG64649;EAW49524;EAW49525;NP_660207;Q96AJ9 Hs.194554 1337592;1700248;1701426;1719269;1724201;1739597;1753393;1755059;1771572;1778940;1781914;1781946;1782050;2107761;2119768;2131344;2135916;2157632;2170741;2171023;2173835;2175263;2182649;5093956 A009Z29;CHLC.GGAT3D06;D10S1207;D10S1269;D10S1445;D11S4048E;G29168;G33022;L18447;RH103741;RH104345;RH121236;RH123356;RH1567;RH65359;SHGC-107210;SHGC-107221;SHGC-132763;SHGC-141998;SHGC-152845;STS-H51777;STS-T91988;VTI1A__5078;WI-14968 MMDS3;MVti1;VTI1RP2;Vti1-rp2 OTTHUMP00000020493;OTTHUMP00000194791;SNARE Vti1a-beta protein;vesicle transport through interaction with t-SNAREs homolog 1A;vesicle transport v-SNARE protein Vti1-like 2 APPROVED protein-coding ENSG00000151532 17792 18290 614316;615330 VALIDATED 1352901 VTI1B vesicle transport through interaction with t-SNAREs 1B 14 14 q24.1 67187619 67211301 - 68117866 68141602 - 1580863;6480464 11252894;16169070;9446565;18570918;15489334;15371541;14769786;12853575;12477932;12175335;12114520;12067063;11786915;11278762;11101518;10683148;9636656;16189514;11839770;11927603;20089838;20562859;21562157;21674799;19224922;21139048;21890473;22875976 10490 G3V5I2;H0YJJ5;H0YJL5;J3KMW2;Q9UEU0 ABBA01023707;AF035824;AF060902;AK291689;AK310839;AK316572;AL049779;AMYH01005816;BC003142;BC042390;BI597967;BT019348;BT019960;CH471061;CR456757;CR542095;NM_006370 AAC52016;AAC73059;AAH03142;AAV38155;AAV38763;BAF84378;BAG38161;CAG33038;CAG46892;EAW80945;EAW80946;EAW80947;NP_006361;Q9UEU0 Hs.741177 1660435;1661399;1736472;1754183;1772621;1777644;1851799;2133381;2149917;2174071 A007B39;A008X14;D14S1294;D14S721E;RH44731;RH68231;SHGC-132208;SHGC-30820;WI-18578;WI-19297 VTI1;VTI1-LIKE;VTI1L;VTI2;v-SNARE;vti1-rp1 OTTHUMP00000245581;v-SNARE;vesicle transport through interaction with t-SNAREs homolog 1B;vesicle transport v-SNARE protein Vti1-like 1;vesicle-associated soluble NSF attachment protein receptor;vti1-rp1 APPROVED protein-coding 17793 04440 603207 VALIDATED 1603244 VWA2 von Willebrand factor A domain containing 2 This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013] 10 10 10 q25.3 109728184 109778935 + 115989008 116039741 + 115999018 116049751 + 6480464 12477932;16385451;21385852;18492952;18434322;15699509;15580307;14506275;10737800;16344560;22685543 340706 Q5GFL6 ABBA01062980;ABBA01062981;ABBA01062982;AC005383;AC022023;AI870708;AJ536328;AJ616914;AK122716;AK127756;AMYH01003086;AMYH01003087;AY572972;AY572973;BC128588;BC143380;BF355787;BF754676;BF802655;BF849816;CA487263;CH471066;DA170480;DB210781;DB349964;NM_001272046;NM_198496 AAI28589;AAT77225;AAT77226;BAC85505;BAC87116;CAD60276;CAE83814;EAW49475;NP_001258975;NP_940898;Q5GFL6 Hs.197741 1298177;1705520;1759029;5016596;7184188;7185481;7185938 D10S16;D10S554;GDB:631802;SHGC-2018;SHGC-83858 AMACO;CCSP-2;MGC157755;NET42 A-domain containing protein similar to matrilin and collagen;OTTHUMP00000020524;OTTHUMP00000043931;a domain-containing protein similar to matrilin and collagen;colon cancer diagnostic marker;colon cancer secreted protein 2;colon cancer secreted protein-2;von Willebrand factor A domain-containing protein 2 protein-coding ENSG00000165816 24709 16481 REVIEWED 1603968 VWA1 von Willebrand factor A domain containing 1 VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010] 1 1 1 p36.33 1201090 1208450 - 1360772 1366009 + 1370903 1378262 + 6480464 17187823;16407285;14702039;14527666;12477932;12062410;20971096;23300779 64856 J3QLP3;J3QRR0;Q6PCB0 ABBA01016042;ABBA01016043;ABBA01016044;AK025868;AK075366;AK096773;AK291557;AL137722;AL391244;AMYH01000133;BC003543;BC059409;BG370349;BQ100861;BU949921;CH471183;DB452905;NM_022834;NM_199121 AAH03543;AAH59409;BAB15264;BAF84246;BAG53363;EAW56197;EAW56198;EAW56199;EAW56200;EAW56201;NP_073745;NP_954572;Q6PCB0 Hs.449009 1678111;1712268;1766709;2127011;2167843 G54042;RH47517;RH80201;SHGC-149988;SHGC-74099 DKFZp761O051;FLJ22215;VWA-1;WARP OTTHUMP00000003018;OTTHUMP00000220538;von Willebrand factor A domain-containing protein 1;von Willebrand factor A domain-related protein APPROVED protein-coding ENSG00000179403 30910 18292 611901 VALIDATED 1641961 VWA3A von Willebrand factor A domain containing 3A 16 16 16 p12.2 20883746 20948192 + 22011363 22075788 + 22103863 22168287 + 6480464 16344560;14702039;12477932;11181995 146177 A6NCI4;H3BTG8;H3BTX3;H3BUS3;H7BXL8 ABBA01003846;ABBA01003847;ABBA01003848;ABBA01003849;AC009019;AK093467;AK098260;AK128606;AK307544;AMYH01007355;AY360464;BC038400;BC109294;BC109295;CH471249;DA102773;DA317287;NM_173615 A6NCI4;AAH38400;AAI09296;AAQ62968;BAC04176;BAC05271;BAC87526;EAW50597;EAW50598;EAW50599;EAW50600;NP_775886 Hs.10697 1664748;1768862 RH78975;SHGC-37352 FLJ40941;FLJ46765 von Willebrand factor A domain-containing protein 3A protein-coding ENSG00000175267 27088 VALIDATED 736955 VTN vitronectin The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008] 17 17 q11 23718425 23721500 - 26694298 26697373 - 1580814;1580815;1580816;1580817;1580818;1580863;5129484;6480464;6484113;6907045 12913402;15069014;15678274;12126637;7536680;20510197 21253761;12808446;2418831;14718574;19162023;19118218;18842294;18781095;18658131;18516040;18376415;18362146;18340378;18200066;18174166;17766387;17344041;17081983;16815299;16807684;16785539;16335952;15914035;15905170;15843372;15777802;15717924;15641781;15489334;15140223;15123885;15123712;14760718;14681059;14586734;12810534;12757937;12565847;12477932;12437099;12091360;12071840;12019263;11864711;11796824;11796716;11785953;11756447;11751588;11744726;11437656;11419941;10887113;10835423;10586957;10342887;10329419;9733784;9718986;9151113;9030777;8920805;8830783;8663085;8567871;7690138;7682219;7545318;7522053;7518183;7490129;6210287;3004934;2479556;2475499;2454751;2448300;2447940;2433863;2414098;1709100;1706595;1704366;1696913;1694173;1377736;1372588;631332;7522689;11113116;7559467;10022831;11156415;15799029;16195248;1632457;1695900;19193026;19267251;19288063;19408099;19635912;19657137;19730683;19893454;19998373;20031688;20066177;20358426;8120056;8626514;8837777;9065424;9443892;20502634;20121701;20199596;20195466;19913121;20600001;20628086;20492459;21193465;21316840;21048021;21832049;22939629;21988832;23327926;23603906;21542857;18624398;21800006;22050461;22810367;8900153 7448 D9ZGG2;P04004 ABBA01015060;AC002094;AF382388;AI352496;AK298441;AK312968;AMYH01008277;BC005046;BG470977;BI758517;CH471159;HM015600;NM_000638;X03168;X05006 AAH05046;AAK60270;ABM84320;ABM87715;ADL14521;BAG35807;BAH12789;CAA26933;CAA28659;EAW51082;NP_000629;P04004 Hs.2257 1678371;1682197;1689139;1694928;1741909;1790371 G44355;GDB:186726;RH11584;RH12566;RH39314;VTN V75;VN;VNT OTTHUMP00000163323;S-protein;complement S-protein;epibolin;serum spreading factor;serum-spreading factor;somatomedin B;vitronectin;vitronectin (serum spreading factor, somatomedin B, complement S-protein) APPROVED protein-coding 12724 01902 193190 REVIEWED 6893185 VWA8-AS1 VWA8 antisense RNA 1 (head to head) 13 42535305 42555701 + 14702039;8889548 100507240 ABBA01021262;AK092199;AL442203;AMYH01005068;CA310831;NR_039974 Hs.147766 miscrna 44270 VALIDATED 2300034 VWA5B2 von Willebrand factor A domain containing 5B2 3 3 3 q27.1 182389082 182400881 + 185431011 185442814 + 183948317 183960117 + 6480464 15231747;12477932;22472876 90113 E9PF42;Q8N398;Q9BVH8 ABBA01058452;ABBA01058453;ABBA01058454;AC061705;AK293885;AL834499;AMYH01013713;AMYH01013714;BC001200;BC009862;BC136609;DC308467;DC310771;NM_138345 AAH01200;AAI36610;BAG57274;CAD39157;NP_612354;Q8N398 Hs.584997 1709114;2146651 RH118405;SHGC-85715 OTTHUMP00000210691;OTTHUMP00000210692;von Willebrand factor A domain-containing protein 5B2 protein-coding ENSG00000145198 25144 PROVISIONAL 1603168 VWA3B von Willebrand factor A domain containing 3B 2 2 2 q11.2 92907511 93133132 + 98070027 98295842 + 98703595 98929410 + 6480464 16344560;14702039;12477932;20379614 200403 B7Z7Q7;F8W737;F8WBX4;F8WD48;F8WD56;H0YCW7;H0YDS6;H0YEM4;H0YF54;Q8WW02 ABBA01073968;ABBA01073969;ABBA01073970;AC018691;AC092675;AC112788;AK057248;AK090786;AK093084;AK098841;AK292397;AK295743;AK302390;AL832635;AL832761;AL834173;AL834385;AMYH01010797;BC022028;BC026091;BC095480;BC150653;CH471127;DB090320;NM_144992 AAH22028;AAH95480;AAI50654;AAY24027;AAY24180;BAC03518;BAC04047;BAC05431;BAF85086;BAH12174;BAH13693;CAD38871;CAD39048;CAD89964;EAX01912;EAX01913;EAX01914;NP_659429;Q502W6 Hs.269977 1338303;1703766;1757297;1783930;2126509 D2S2175;SHGC-111733;SHGC-144701;SHGC-83203;T16066 FLJ32686;MGC26733 OTTHUMP00000214154;von Willebrand factor A domain-containing protein 3B protein-coding ENSG00000168658 28385 14510 PROVISIONAL 1342662 VWA7 von Willebrand factor A domain containing 7 6 6 6 p21.33 33331616 33343354 - 31841350 31853087 - 31733371 31745108 - 6480464 19204726;19143814;14656967;14574404;12477932;10803853;8812450;21145461;19851445;20466734;11261934 80737 E7EMA3;Q9Y334 ABBA01038086;AF134726;AJ245418;AK304058;AK304266;AL662834;AL662899;AMYH01016217;BA000025;BC114625;BX248133;CH471081;CR759787;CR759915;CR925765;DC323829;NM_025258 AAD21820;AAI67823;BAB63304;BAG64965;BAG65129;CAB52192;EAX03521;EAX03522;NP_079534;Q9Y334 Hs.558553 2120622 RH47649 C6orf27;FLJ25524;G7c;NG37 OTTHUMP00000029181;protein G7c;von Willebrand factor A domain-containing protein 7 APPROVED protein-coding ENSG00000204396 13939 12880 609693 VALIDATED 1606163 VWA5B1 von Willebrand factor A domain containing 5B1 1 1 1 p36.12 18940501 19004478 + 20502161 20553974 + 20617412 20681387 + 6480464 16344560;14702039;12477932;20379614 127731 E7EM39;E7EM40;E9PMB3;E9PNX8;E9PP07;E9PQ62;H0YED8;Q5TIE3 ABBA01059776;ABBA01059777;AK057346;AK125833;AK295797;AL020998;AMYH01000319;AMYH01000320;BC101378;BC101379;BC101380;BC101381;CH471134;DA806846;NM_001039500 AAI01379;AAI01380;AAI01381;AAI01382;BAB71439;BAC86312;BAG58617;EAW94921;NP_001034589;Q5TIE3 Hs.205178 1341357;1759615;2144716;5016781;5037552 AL009820;D1S2732;D8S2279;SHGC-150963;SHGC-67307 FLJ32784;FLJ43845 OTTHUMP00000002878;von Willebrand factor A domain-containing protein 5B1 protein-coding ENSG00000158816 26538 08732 VALIDATED 6483995 VWC2L-IT1 VWC2L intronic transcript 1 (non-protein coding) 2 q35 215374906 215401614 + 100885780 AA868132;ABBA01062781;AC107218;AMYH01011482;NR_047698 Hs.665982 miscrna 41508 VALIDATED 1604630 VWA8 von Willebrand factor A domain containing 8 13 13 13 q14.11 23199011 23592898 - 41038961 41433221 - 42140961 42535221 - 6480464 12477932;14702039;12421765;9628581;20663923;19615732;20379614;20528957 23078 A3KMH1;C9JBW2;E2QRD0 AA648780;AB011136;ABBA01021262;ABBA01021263;ABBA01021264;AK025432;AK095155;AK308568;AL160252;AL161417;AL163544;AL354833;AL442203;AL834181;AMYH01005064;AMYH01005065;AMYH01005066;AMYH01005067;AMYH01005068;BC042924;BC053674;BC131802;CH471075;NM_001009814;NM_015058 A3KMH1;AAH42924;AAH53674;AAI31803;BAA25490;BAG52993;CAD38878;EAX08665;EAX08666;EAX08667;NP_001009814;NP_055873 Hs.368282 1657668;1672087;1674642;1687834;1706992;1716491;1718415;1737527;1738437;1750055;2132534;2152503;2178952;2183447;2186249;2186755;2191023 A008J03;D13S1053;D13S1089E;D13S898;G19267;MARC_13466-13467:1002299828:1;RH121531;RH122409;RH12700;RH44589;RH64931;RH65794;SHGC-112321;SHGC-34907;SHGC-61044;SHGC-80996;WI-11109 FLJ21779;KIAA0564 OTTHUMP00000018323;OTTHUMP00000018324;OTTHUMP00000214985;hypothetical protein LOC23078;uncharacterized protein KIAA0564;von Willebrand factor A domain-containing protein 8 APPROVED protein-coding ENSG00000102763 29071 17194 VALIDATED 1323359 VWA5A von Willebrand factor A domain containing 5A 11 11 11 q24.1 121145259 121176768 + 123491321 123522829 + 123986111 124017619 + 1302758;1580863;6480464 9417908 15489334;14504409;12477932;8889548;19656157;21832049;22939629;18029348;20972266;21987572;21782286;21803008;22594792;21963094;23251661 4013 B4DHS6;O00534 ABBA01031263;AF002672;AK291698;AK295247;AK314934;AMYH01004102;AP000818;AY366501;AY366503;AY366504;AY366505;AY366506;AY366507;AY366508;BC001234;BM990294;BT006655;CB243896;CH471065;NM_001130142;NM_014622;NM_198315 AAB60942;AAH01234;AAP35301;AAQ94867;AAQ94868;AAQ94869;AAQ94871;AAQ94872;AAQ94873;AAQ94874;AAQ94875;AAQ94876;BAF84387;BAG37440;BAG58238;EAW67570;EAW67571;EAW67572;EAW67573;NP_001123614;NP_055437;NP_938057;O00534 Hs.152944 2108205;2124990 LOH11CR2A_8439;STS-N22577 BCSC-1;BCSC1;LOH11CR2A OTTHUMP00000231621;OTTHUMP00000231622;OTTHUMP00000231623;OTTHUMP00000231626;breast cancer suppressor candidate 1;loss of heterozygosity 11 chromosomal region 2 gene A protein;loss of heterozygosity, 11, chromosomal region 2, gene A;ortholog of mouse AW551984;von Willebrand factor A domain-containing protein 5A protein-coding ENSG00000110002 6658 04238 602929 VALIDATED 1346863 VWFP1 von Willebrand factor pseudogene 1 22 22 22 q11.1 793068 807644 - 15550893 15565467 - 17170925 17185351 - 1988024;1487245 7451 ABBA01001463;AC005301;AMYH01012421;NG_001212;X66120 1742263;1743999;2142900 D22S543;GDB:194282;GDB:384761 F8VWFL;F8VWFP;VWFP APPROVED pseudo 12727 INFERRED 1352980 VWS Van der Woude syndrome 7240710 7452 12728 119300;119500;608864 1603838 VWC2 von Willebrand factor C domain containing 2 This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009] 7 7 7 p12.2 49907441 50046308 + 49783803 49922684 + 49813257 49952138 + 6480464 12477932;17400546;12975309;17483092 375567 Q2TAL6 AACC02000076;AB292671;ABBA01008173;ABBA01008174;AC034145;AC093775;AMYH01017241;AMYH01017242;AMYH01017243;AY358393;BC110857;CH236955;CH471128;NM_198570 AAI10858;AAQ88759;BAF51551;EAL23904;EAW60985;NP_940972;Q2TAL6 Hs.629302 1786502;2147953 D7S1433;SHGC-82868 Brorin;MGC131845;PSST739;UNQ739 OTTHUMP00000159581;brain-specific chordin-like protein;brorin;von Willebrand factor C domain-containing protein 2 APPROVED protein-coding ENSG00000188730 30200 18271 611108 REVIEWED 1604589 VWA9 von Willebrand factor A domain containing 9 15 15 15 q22.31 42737603 42781299 - 63658169 63690460 - 65871095 65903627 - 6480464 11256614;16381901;15489336;12477932;11230166;11076863;20139978;15342556;20133760;21139048;21890473;21906983;21907836 81556 B4DJL6;B4DVT3;B4DWZ3;H3BMK7;H3BN95;H3BNR6;H3BP17;H3BRY6;H3BT02;H3BV25;Q96SY0 AA745705;ABBA01038847;AC027220;AK027475;AK293207;AK296134;AK301033;AK301222;AK301742;AK310857;AL136662;AMYH01006719;BC007991;BC037823;BM558754;BP315446;CA414283;CH471082;DC298728;DC313962;DC316545;DC376467;DC384988;NM_001207058;NM_001207059;NR_045104;NR_045105;NR_045106;NR_045107;NR_045901 AAH07991;AAH37823;BAB55140;BAG56747;BAG58878;BAG62647;BAG62795;BAG63205;CAB66597;CAL37792;EAW77737;EAW77738;NP_001193987;NP_001193988;Q96SY0 Hs.6686 1652022;1772144;1856125;2124128 A002H06;D15S1090;RH44496;RH45206 C15orf44;DKFZp564O1664 OTTHUMP00000164211;UPF0464 protein C15orf44;hypothetical protein LOC81556;von Willebrand factor A domain-containing protein 9 APPROVED protein-coding ENSG00000138614 25372 13175 VALIDATED 2859445 VWC2L von Willebrand factor C domain containing protein 2-like 2 2 2 q34-q35 209044703 209208866 + 214984537 215149052 + 215276461 215440653 + 6480464 12477932;20379614;20468071;22209847;23534349 402117 B2RUY7;B7ZW27 AB374231;ABBA01062781;AC068051;AC107218;AMYH01011482;BC146903;BC146911;BC146931;BC146935;BC171841;EF552207;EU541473;NM_001080500 AAI46904;AAI46912;AAI46932;AAI46936;AAI71841;ABU41137;ACD62527;B2RUY7;BAH04176;NP_001073969 Hs.534834 1750697;1765017;1776958 D2S107;SHGC-112180;SHGC-148566 OTTHUMP00000206731;brorin-like;von Willebrand factor C domain-containing protein 2-like APPROVED protein-coding 37203 PROVISIONAL 2299987 VWDE von Willebrand factor D and EGF domains 7 7 7 p21.3 12348231 12421579 - 12337034 12410377 - 12370509 12443852 - 6480464 16303743;14702039;12477932;20379614;23006423 221806 E5RG96;J3KQJ9;Q8N2E2 AACC02000009;ABBA01056569;AC007321;AC013470;AK027618;AK075525;AMYH01017074;BC144316;BC144319;CH236948;CH471073;NM_001135924 AAI44320;BAB55237;BAC11671;EAW93643;EAW93644;NP_001129396;Q8N2E2 Hs.669526 1662095;1755557;2121735;2180444 D7S2376;GDB:1318156;RH47773;SHGC-142411 FLJ14712 OTTHUMP00000201468;OTTHUMP00000225163;von Willebrand factor D and EGF domain-containing protein protein-coding ENSG00000146530 21897 PROVISIONAL 1347936 VWF von Willebrand factor The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] 12 12 p13.3 5928301 6104097 - 6058040 6233836 - 1580642;1580643;1580647;1580648;1625712;1625709;1625710;1625711;1580644;1580645;1580863;1580446;6480464;6907045;7207029;7240710;7205646;7205649;7205650;7207026;7207027;7205639;7205641;7207031;7207032;7207039;7205648 15849757;14717981;11864703;10077454;17546272;16764036;16739871;16631442;14727254;14507115;11487006;19722571;22091998;21378155;21153061;20439183;19839997;22596213;22189209;22295953;21953673;22771326;21497043 10887119;2056120;16409464;3121636;9079671;12775718;7721887;8565074;12871509;8874190;15029268;3082891;3087627;6754744;1939645;3872140;14718574;9759493;19624459;19506362;19506361;19506360;19506359;19506358;19506357;19506356;19506355;19506354;19506353;19506352;19498171;19470641;19422343;19420105;19346881;19298374;19289057;19277422;19192112;19190814;19190813;19190805;19175495;19110358;19088379;19060241;19029465;19021456;18983500;18983499;18981290;18945966;18927433;18923835;18855616;18848323;18841300;18809794;18776767;18771467;18761720;18752579;18725999;18724972;18712522;18690339;18665926;18647229;18637125;18618671;15842375;15842374;15842373;15831502;15824096;15816602;15809291;15799029;15764659;15748247;15748246;15735796;15514009;15471879;15467896;15459008;15382239;15377475;15331450;15322948;15257287;15249683;15226181;15219197;15203711;15150074;18612539;18600088;18577516;18549909;18535282;18521510;18521502;18515885;18503632;18492805;18485092;18449422;18433458;18433456;18388497;18347221;18344423;18327408;18315556;18315546;18263586;18194418;18173757;18094571;18064343;18045606;18042361;18029348;17996280;17975018;17958741;17949477;17922807;17908278;17901248;17890957;17883593;17849054;17786534;17764538;17723135;17721608;17681836;17650077;17622488;17619827;17598021;17598011;17597991;17493665;17490730;17472573;17414220;17408410;17408405;17393013;17393012;17371490;17296575;17275499;17190853;17159339;17159336;17146059;17137217;17121983;17119126;17109387;17100655;17098004;17090649;17087728;17053057;17052980;17010412;16990571;16985174;16953272;16953269;16899464;16894469;16870550;16839358;16835381;16805860;16774914;16735600;16676067;16634765;16449527;16435187;16424652;16420575;16418330;16373331;16344560;16324758;16322474;16321553;16320153;16314412;16286459;16247740;16221672;16203734;16194200;16141351;16102037;16102036;15975930;15946221;15946218;15933060;15886817;15886321;11056094;10961880;10880054;10831592;10764791;10737800;10607717;10480607;9570915;9553097;9407109;9373253;9331419;9312128;9218428;9215757;8839833;8622978;8590955;8547152;8486782;8435341;8376405;8348943;8338947;8318738;8123844;8123843;8088787;8011991;7989040;7789955;7734373;7620154;6336654;3875078;3874428;3873280;3524673;3502076;3496594;3495266;3490481;3489923;3489483;3488775;3488076;3089784;3033024;3019665;2864688;2828057;2786201;2584182;2557900;2251280;11583318;11236861;2011604;2010538;1988154;1988024;1906179;1832934;1761120;1737795;1729889;1673047;1672694;1439770;1429668;1420817;1419804;1419803;1409710;15102023;15087444;15079089;15005754;14995987;14760718;14755371;14727255;14717980;14717782;14691575;14630802;14604963;14525793;14517489;14512308;12958606;12883448;12871466;12871266;12860973;12851529;12815111;12792699;12791651;12737944;12729795;12719775;12676191;12668663;12665801;12649144;12646253;12624629;12582178;12579041;12543870;12511565;12477932;12456504;12447349;12445472;12406074;12393736;12393698;12393671;12381897;12362242;12361948;12215337;12183630;12163004;12091053;12087105;12083486;12082590;12070018;12069583;12036879;12036871;12006654;11992244;11992236;11943773;11920243;11914659;11877281;11869299;11859851;11843298;11843287;11843285;11776314;11776313;11756664;11755948;11736957;11722428;11698279;21937160;22100896;22139419;22219226;22370688;22431729;22479377;22490677;22503077;22517896;20737318;20806106;20806123;21094987;20605782;20651279;20725043;21471547;21896483;12121649;15182579;1571548;16005629;16581250;16912226;18996572;19286880;19350125;19372260;19422453;19436051;19477487;19496923;19541819;19566550;19570985;19587373;19608674;19630761;19630816;19647361;19682236;19687512;19718474;19718479;19726719;19729451;19730683;19740526;19765212;19765213;19812385;19817991;19820200;19840363;19874459;19875727;19897581;19897584;19933990;19943880;19944670;19948975;19965639;20021313;20024497;20032502;20036902;20058209;20060388;20062916;20063990;20075158;20118404;20142117;20201926;20218000;20231421;20231535;20303469;20335223;20346360;20424473;20452482;20492463;20508517;2839553;3134349;7505120;7756647;22298244;20675279;20936779;21029358;21150180;20351307;20354169;20431063;20570857;20627205;20650506;20696943;20696945;20701764;20941784;9351824;20589313;20589314;20589320;20940418;21044367;20498367;22740102;20705333;10887121;15039442;20418283;20156642;19913121;20505748;20565774;20628086;20673868;20682599;20723310;20403097;20729548;20301765;20561182;20586924;20958794;21037087;20695979;20704649;20979592;20197612;20854374;20946172;21048155;19773258;20491956;21266777;21136020;21143374;21174003;22812646;23104847;22532296;22896002;22688555;22871923;23168412;21638248;21304226;21343614;21346256;21512165;21163921;21592973;21596755;20030949;21779388;21507943;21393328;21629201;21705658;19732980;21352469;21362127;21410641;22952809;21844207;23020229;21909423;21911836;21917758;21847508;21715306;21078624;21342431;21810271;22032085;21857647;21940821;21711445;21729570;22477538;22507806;22612323;23335371;23349392;23358615;22507569;22537243;22568520;22056526;22178067;22559004;17370265;21518247;21592258;21605335;21831097;21839029;21792464;21904649;22004444;22096550;22110247;22125593;22197721;22267483;22282355;22357761;22545467;21474661;22431572;22452980;22257027;22268915;22429825;22466813;22718838;22593709;22982001;23355534;23426949;15231748;18985028;21988832;23520336;22077817;23179108;23383177;23529929;22207689;22487084;22922961;22070827;22163125;22674667;21612582;22095559;22849435;22854959;22923007;23267103 7450 I3L4K4;P04275;Q8TCE8 ABBA01017627;ABBA01017628;ABBA01017629;AC005845;AC005846;AC005904;AF086470;AK292122;AK297600;AK298097;AK301216;AMYH01004200;AMYH01004201;BC022258;BG951111;BQ898017;CH471116;DB293903;HI552225;K03028;M10321;M16946;M17588;M25828;M25865;M60675;NG_009072;NM_000552;U81237;X02672;X04146;X04385;X06829 AAA61293;AAA61294;AAA61295;AAA65940;AAB39987;AAB59458;AAB59512;AAH22258;ACX32324;BAF84811;BAG59985;BAG60382;BAG62791;CAA26503;CAA27765;CAA27972;CBX54458;EAW88814;EAW88815;EAW88816;EAW88817;EAW88818;NP_000543;P04275 Hs.440848 1661131;1724715;1733530;1736848;1736860;1740913;1741073;1741227;1741229;1741273;1741667;1741721;1742013;1742591;1743999;1778808;1849800;1855670;2127489;2161022;2180764;2183719;2189773;2218140;5119581;5119645;5119647;7183174 D12S1259;D12S1264;D12S289;D12S825;D12S877;G41270;G41271;G41272;GDB:176284;GDB:177382;GDB:177623;GDB:177624;GDB:177640;GDB:178699;GDB:178806;GDB:180294;GDB:181639;GDB:182362;GDB:186564;GDB:188761;GDB:190877;GDB:197913;GDB:384761;RH122561;VWA;VWF_2697;WI-6010 F8VWF;VWD OTTHUMP00000238431;coagulation factor VIII VWF;von Willebrand factor APPROVED protein-coding ENSG00000110799 12726 01906 193400;277480;613160;613554 REVIEWED 1602968 VWCE von Willebrand factor C and EGF domains 11 11 11 q12.2 58361797 58398795 - 60782334 60819364 - 61025758 61062788 - 6480464 16344560;16496348;14702039;12869306;12477932;7566098;19900406;19413886 220001 B4DS56;B4DY31;Q96DN2 AA328361;ABBA01003196;ABBA01003197;AK056571;AK299583;AK302241;AMYH01003677;AP003037;AY205235;BC042143;BC052564;BC077719;BC142624;CH471076;DB126089;NM_152718 AAI42625;AAO47606;BAB71219;BAG61518;BAG63593;EAW73929;EAW73930;EAW73931;EAW73932;NP_689931;Q96DN2 Hs.60640 1699128;2134355 RH103140;STS-AA017051 FLJ32009;URG11;VWC1 HBV X protein up-regulated gene 11 protein;HBxAg up-regulated gene 11 protein;OTTHUMP00000238313;von Willebrand factor C and EGF domain-containing protein protein-coding ENSG00000167992 26487 08116 611115 VALIDATED 7241104 WARS2P1 tryptophanyl tRNA synthetase 2 pseudogene 1 10 82700400 82700963 - 100421633 ABBA01003788;AC013242;AMYH01002886;NG_025451 pseudo 45116 INFERRED 7096862 WAC-AS1 WAC antisense RNA 1 (head to head) 10 p11.23 28808846 28821283 - 12477932;14702039;16751776 220906 ABBA01034374;AK001143;AL358234;AMYH01002210;BC043365;BC045818;DQ590761;NR_033805 Hs.403253 1756201;2190103;5015961;5024756;5124377 99-511;D15S1477;RH79851;RH80030;SHGC-143066 miscrna 27347 VALIDATED 1319037 WAPAL wings apart-like homolog (Drosophila) 10 10 q23.2 88184993 88271521 - 88195013 88281541 - 6480464 15231747;17113138;17382297;17112726;17081983;15620708;15383329;15345747;15302935;15164054;15150110;12477932;9039502;11111111;16385451;18662753;20379614;18187866;19907496;19696148;16159877;21252943;22939629;18029348;17349791;20360068;21275903;19471022;21139048;22145905;19322201;22751501;21111234;22699663;23383273 23063 Q7Z5K2;Q8WVX6 AB065003;AB426821;AB426822;AB426823;AB426824;AB426825;AB426826;AB426827;AB426828;AB426829;AB426830;AB426831;AB426832;AB426833;AB426834;AB426835;AB426836;AB426837;AB426838;ABBA01033670;ABBA01033671;ABBA01033672;ABBA01033673;ABBA01033674;AF479418;AK000849;AK027005;AK290138;AL731569;AL844892;AMYH01002900;BC017393;BC036507;BC105991;BC140858;BC150269;CH471142;D87450;NM_015045 AAH17393;AAI40859;AAI50270;AAO14651;BAA13391;BAC78631;BAF82827;BAG55435;BAG55436;BAG55437;BAG55438;BAG55439;BAG55440;BAG55441;BAG55442;BAG55443;BAG55444;BAG55445;BAG55446;BAG55447;BAG55448;BAG55449;BAG55450;BAG55451;BAG55452;EAW80334;EAW80335;EAW80336;EAW80337;NP_055860;Q7Z5K2 Hs.203099;Hs.714876 1661700;1682798;1714425;1760069;1788758;2165367;5491445 MARC_12283-12284:1005150312:1;RH120205;RH130055;RH68106;RH79889;SHGC-107756;STS-H98757 FOE;KIAA0261;WAPL OTTHUMP00000020004;friend of EBNA2 (Epstein-Barr virus nuclear protein 2);friend of EBNA2 protein;wings apart-like protein homolog protein-coding ENSG00000062650 23293 11072 610754 VALIDATED 1605391 WAC WW domain containing adaptor with coiled-coil The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008] 10 10 10 p12.1 28585512 28673953 + 28861706 28949478 + 28821422 28912041 + 6480464 21832049;22939629;17081983;16964243;16713569;16189514;15489334;15164054;15146197;14702039;12477932;11827461;11347906;11223034;11042152;8125298;22087225;16712791;21329877;22354037;21811234;17043677;18781797;21890473;21906983;22053931 51322 C9JD58;C9JMU2;C9JVK6;E9PMZ7;J3QT76;J3QTA0;Q5JU77 AB058747;ABBA01034373;ABBA01034374;AF116666;AF208858;AK055852;AK091453;AK223600;AK225846;AK290174;AK297460;AL161936;AL358234;AL713727;AMYH01002210;AMYH01002211;BC004258;BC010356;BI226998;BI463901;CB143386;CH471072;CN415473;NM_016628;NM_100486;NR_024557 AAF64272;AAF71086;AAH04258;AAH10356;ADZ15977;BAB47473;BAB71029;BAD97320;BAF82863;BAG59883;CAD28517;EAW86032;EAW86033;EAW86034;EAW86035;EAW86036;EAW86037;EAW86038;EAW86039;EAW86040;EAW86041;EAW86042;NP_057712;NP_567823;Q9BTA9 Hs.743224 1339766;1643846;1777587;1788734;1789096;1857141;2131560;2172031;5015961;5021343;5022322;5022578;7190557;7190561 D10S1462;D10S1559;D10S1605;D10S1639;D10S2157;D11S2560;D15S1477;D1S1423;G65682;MARC_12205-12206:1004715700:1;RH136094;STS-N29472 BM-016;MGC10753;PRO1741;Wwp4;bA48B24;bA48B24.1 1110067P07Rik;OTTHUMP00000019380;OTTHUMP00000019381;OTTHUMP00000019382;OTTHUMP00000019383;WW domain-containing adapter protein with coiled-coil;WW domain-containing adaptor with coiled coil APPROVED protein-coding 17327 18291 615049 REVIEWED 6481270 WASF3-AS1 WASF3 antisense RNA 1 100874061 AL163538 APPROVED miscrna 39841 1626545 WASF4P WAS protein family, member 4, pseudogene This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, most closely resembles the gene encoding the WAS protein family member 2, which is located on chromosome 1. [provided by RefSeq, Jul 2008] X X X p11.23 51857872 51862058 + 47541297 47549521 + 47662546 47666932 + 644739 ABBA01052407;AJ509090;AL022578;AMYH01022266;NG_007616 CAD48858 1776543;1797198;1852496;2113234;2126484 AL023620;DXS9892;G06203;RH68756;WASF2 WASF4 APPROVED pseudo 20801 INFERRED 1318471 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 1 1 1 p12 117804670 117914139 - 119375362 119484818 - 119573839 119683295 - 1580863;6480464;6907045 17726052;16710414;16341674;15489334;14757836;12477932;10828066;10072595;8125298;17207965;20877624;20935629;21832049 10352 B7Z5X7;Q9UGM6 ABBA01068510;ABBA01068511;AJ242739;AK223197;AK296799;AK299547;AK300295;AK313740;AL139420;AL359823;AL590288;AMYH01000975;AMYH01000976;BC021722;BC039889;BC044575;BM834499;CH471122;NM_015836;NM_201263 AAH44575;ADQ32964;BAD96917;BAG36481;BAH12434;BAH13063;BAH13253;CAB63107;EAW56693;EAW56694;NP_056651;NP_957715;Q9UGM6 Hs.523506 1338626;1659853;1659855;1690222;1701682;1761853;1781500;2170503;2187446 D1S2242;D1S534;G31199;RH36716;SHGC-141512;SHGC-145801;SHGC-64122;SHGC-75395;SHGC-75398 TrpRS (Mt)TrpRS;OTTHUMP00000014272;OTTHUMP00000014273;tryptophan tRNA ligase 2, mitochondrial;tryptophan--tRNA ligase;tryptophan--tRNA ligase, mitochondrial;tryptophan-tRNA ligase;tryptophanyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000116874 12730 05295 604733 REVIEWED 1353645 WASF5P WAS protein family, member 5, pseudogene This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, resembles the gene encoding the WAS protein family member 3, which is located on chromosome 13. [provided by RefSeq, Jul 2008] 6 6 p21.33 32853833 32855612 - 31255162 31256941 - 19115949;20041166 387122 ABBA01038073;AL662833;AL671883;AL845443;AMYH01016210;BX248310;BX927178;CR759814;CR759828;NG_007617 APPROVED pseudo 21665 INFERRED 1317961 WARS tryptophanyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 14 14 q32.31 99869878 99912433 - 100800125 100842680 - 1580863;6480464;6907045 1761529;16130169;18180246;17999956;17877375;16798914;16724112;16083285;15939065;15628863;15489334;14702039;14671330;14660560;14630953;12477932;12416978;11834741;11829477;11773626;11773625;11474204;9731757;8864140;8724762;8646895;7925483;7685728;1765274;1763065;1537332;1373391;1286667;16702215;16169070;19363598;19768679;19900940;8496617;16341674;20562859;19913121;20628086;20963594;22863883;22990118;21832049;22939629;21900206;21926542;22079093;22586326;21139048;21890473;21906983;21442253;16009940;21044950 7453 G3V227;G3V277;G3V2C0;G3V2F2;G3V2Y7;G3V313;G3V339;G3V3H8;G3V3P2;G3V3R3;G3V3S7;G3V3X0;G3V3Y5;G3V423;G3V456;G3V4A3;G3V4C7;G3V4N0;G3V4N8;G3V4Q0;G3V4S4;G3V5H5;G3V5U1;G3V5W1;H0YJP3;P23381;P78534 ABBA01048530;ABBA01048531;AK025487;AK056100;AK130698;AK291141;AK300255;AL135838;AL157871;AMYH01006010;AV710027;BC017489;BC095453;BG717903;BM561448;BM834473;BX248006;CH471061;M61715;M77804;NG_029914;NM_004184;NM_173701;NM_213645;NM_213646;S82904;S82905;X59892;X62570;X67923 AAA61298;AAA67324;AAB39380;AAB39381;AAH17489;AAH95453;BAF83830;BAG51626;BAG62020;CAA42545;CAA44450;CAB94199;CAD62335;EAW81700;EAW81701;EAW81702;EAW81703;NP_004175;NP_776049;NP_998810;NP_998811;P23381 Hs.497599 1651432;1660608;1674867;1700072;2110799;2133894;2182001;2185950 G35834;RH103649;RH44843;RH65341;RH70848;WARS_8724;WI-12109;WI-12287 GAMMA-2;IFI53;IFP53 OTTHUMP00000246493;OTTHUMP00000246494;OTTHUMP00000246495;OTTHUMP00000246496;OTTHUMP00000246497;OTTHUMP00000246498;hWRS;interferon-induced protein 53;trpRS;tryptophan tRNA ligase 1, cytoplasmic;tryptophan--tRNA ligase;tryptophan--tRNA ligase, cytoplasmic;tryptophanyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000140105 12729 01845 191050 REVIEWED 1349471 WAS Wiskott-Aldrich syndrome The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008] X X p11.4-p11.21 48427153 48434759 + 48542186 48549818 + 1599803;1580863;6480464;6907045;7240710 8069912 12769847;8625410;18029348;19155218;19006568;18995840;18948384;18941616;18654788;18332229;18043243;17890224;17724125;17719003;17711847;17703096;17400488;17390083;17296785;17242350;17065640;16901726;16804117;16709815;16511828;16488394;16372137;16360341;16293614;16285728;16278221;16246732;16002738;15985539;15821030;15772651;15728466;15699074;15592455;15588985;15497008;15489334;15469902;15389128;15361624;15235593;15166239;15130947;15001467;14707117;14559906;14504083;12969986;12872157;12791263;12769846;12727931;12665801;12591280;12530983;12504004;12477932;12429845;12351383;12235133;12213210;12200375;12196287;12177428;12135674;12124997;12073025;12029088;11950596;11943145;11877312;11793485;11748279;11721045;11711533;11598004;11340081;11313252;11242115;11146629;11052943;10967094;10759756;10747096;10724160;10713100;10563804;10532312;10447259;10381382;10360578;10358777;10224664;10068673;9742969;9713366;9683546;9488710;9445409;9405671;9307968;9126958;9098856;8892607;8824280;8810341;8805332;8805223;8757563;8643625;8528199;8528198;7795648;7753869;7565724;4161668;2904289;9694849;9889097;15735674;15558067;15494313;15652748;10066431;22585739;22804504;21178275;10202051;10802735;12600272;16055720;16582881;19041431;19167335;19487689;19561083;19808890;19817875;19859091;9660763;19630517;20936779;20354175;20232122;20574068;21185603;21383498;16418535;18388313;23148219;23160469;21690559;21676863;21711396;22038941;23455509;12431372;18539136;21890473;22311461;22558309;20301357;16257963;22665495;10360579;10427990;10684602;21988832;23119100;23237501;15075243;15824104;16107303;21562048;22505724;22944692;23264413 7454 C9J3B7;P42768 ABBA01046045;AC115618;AF115548;AF115549;AF196970;AMYH01022290;BC002961;BC012738;BI910072;CF529565;CH471224;NG_007877;NM_000377;U12707;U18935;U19927 AAA60381;AAA62663;AAC50140;AAD26691;AAH02961;AAH12738;ABW03900;EAW50758;EAW50759;NP_000368;P42768 Hs.2157 1677530;1689155 RH79911;RH91122 IMD2;SCNX;THC;THC1;WASP OTTHUMP00000032395;eczema-thrombocytopenia;thrombocytopenia 1 (X-linked);wiskott-Aldrich syndrome protein APPROVED protein-coding ENSG00000015285 12731 02314 300299;300392;301000;313900 REVIEWED 1343996 WASF1 WAS protein family, member 1 The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q21 110527715 110607900 - 110421022 110501207 - 1580863;6480464;6907045 9843499;2775266;10381382;18029348;19497998;19222940;18995840;18947485;18516090;18287015;17901257;17696648;17101133;15670045;15506982;15489334;15280206;15048733;15048123;14702039;14506234;12931191;12872157;12855698;12477932;12447388;12429845;12181570;11146629;11130076;11052943;10970852;10563804;10532312;9889097;9804817;9732292;9463375;9307968;9039502;8605018;15494313;15659634;15834156;16530190;16862120;17939402;19631450;19890377;20368433;20426950;22939629;19731823;23452202;21844371;21875946;23273897;21139048;22179776;22721732;18559503 8936 Q5SZK3;Q5SZK4;Q5SZK5;Q92558 ABBA01026121;AF134303;AI928895;AK097838;AL590009;AL590549;AL671518;AMYH01016586;AMYH01016587;AMYH01016588;BC044591;BC068546;BG719023;BI461486;CH471051;D87459;NM_001024934;NM_001024935;NM_001024936;NM_003931 AAD33052;AAH44591;BAA13399;EAW48325;EAW48326;EAW48327;EAW48328;EAW48329;EAW48330;NP_001020105;NP_001020106;NP_001020107;NP_003922;Q92558 Hs.75850 1665117;1670433;1778485;2106743;2139026;2139028;2154095 1634;A001U21;A007F39;D6S1324;G19661;RH12604;WASF1_3919 FLJ31482;KIAA0269;SCAR1;WAVE;WAVE1 OTTHUMP00000016990;OTTHUMP00000016992;WASP family protein member 1;homology of dictyostelium scar 1;protein WAVE-1;verprolin homology domain-containing protein 1;wiskott-Aldrich syndrome protein family member 1 APPROVED protein-coding ENSG00000112290 12732 05434 605035 REVIEWED 1606388 WASH4P WAS protein family homolog 4 pseudogene 16 16 p13.3 3937 9629 - 64079 68148 - 18159949;18029348;15616553;11701968;9054936 374677 A8MWX3;F5GYV6;H3BUR0;H3BV49 AMYH01006981;NG_003159;Z84812 1813658;2104304 ECD07852;stSG608807 CXYorf1P;FAM39CP;FLJ31670 pseudo 14126 INFERRED 1316411 WASF2 WAS protein family, member 2 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011] 1 1 p36.11 27604713 27689256 - 27730734 27816678 - 1580863;6480464;6484113;6907045 10970852;9732292;17101133;19303398;19162178;19012317;18809728;18795939;18514191;18509249;17591693;17501982;17459058;17081983;17020969;16899465;16710414;16702231;16638851;16401421;15670045;15657136;15489334;15280206;15107862;15070726;15048123;12477932;12181570;12054568;11773052;11246027;11146629;11130076;11073096;10532312;10427990;10381382;10202051;9950691;9889097;9804817;9307968;16055720;19576655;19917258;19925864;20621182;8619474;9110174;16417406;21184743;21383498;16751776;21419341;21119216;22863883;15772651;18856062;22939629;21875946;21139048;21906983;23051739;23444366;21769917;22558309;23161539;23518928;20585556;23435376 10163 Q8NBU0;Q9Y6W5 AB026542;ABBA01034971;ABBA01034972;ABBA01034973;ABBA01034974;AJ431612;AK024540;AK025566;AK075231;AK303011;AK304750;AL096774;AL663122;AMYH01000422;AY007122;BC001524;BC001855;BC012329;BC032380;BC032724;BC040943;BX293535;CH471059;DC376823;NM_001201404;NM_006990 AAH32724;AAH40943;BAA81795;BAC11488;BAG64142;BAG65507;CAC18518;EAX07753;NP_001188333;NP_008921;Q9Y6W5 Hs.469244 1773223;1776543;1797198;1798316;1852496;2126484 AL023620;D20S1108;G06203;RH68756;WASF2;WASF2_2055 IMD2;SCAR2;WASF4;WAVE2;dJ393P12.2 IMD2;OTTHUMP00000003471;Putative Wiskott-Aldrich syndrome protein family member 4;WASP family Verprolin-homologous protein 2;WASP family protein member 2;WASP family protein member 4;protein WAVE-2;suppressor of cyclic-AMP receptor (WASP-family);verprolin homology domain-containing protein 2;wiskott-Aldrich syndrome protein family member 2 APPROVED protein-coding ENSG00000158195 12733 05796 605875 REVIEWED 2302258 WASH5P WAS protein family homolog 5 pseudogene 19 9 19 p13.3 155394459 155407034 + 4517 7479 - 60951 70966 - 14702039 375690 AC008993;AK308635;NR_033266 Hs.521961;Hs.572592 2046584 REN94418 FAM39F;FLJ35264;FLJ50976;FLJ51139;FLJ98676;FLJ99967 pseudo 33884 VALIDATED 1346468 WASF3 WAS protein family, member 3 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. [provided by RefSeq, Jul 2008] 13 13 q12 26029840 26161082 + 27131840 27263082 + 1580863;6480464 10381382;17623672;15907837;15826941;15752430;15670045;15280206;15057823;12856283;12477932;12185600;12168954;11246027;11146629;11073096;10048485;9732292;8889548;8137235;19801681;19395286;22909346;21105030;21875946;21544801;21906983;22315230;21988832;22806308;22581642;22952619 10810 Q5T8P4;Q86VQ2;Q9UPY6 AB020707;AB026543;ABBA01007917;ABBA01007918;AF134305;AF454702;AK289845;AK294725;AL133590;AL159978;AL163538;AL353789;AMYH01004984;BC050283;BU736040;CH471075;NM_006646;S69790 AAD33054;AAH50283;AAL51032;BAA74923;BAA81796;BAF82534;BAG57872;EAX08388;EAX08389;NP_006637;Q9UPY6 Hs.618732 1336249;1653316;1736352;1857443;1858064;1858066;2147605;2218142;5023321 A006B03;A008C17;D13S861E;D6S1660;G20666;RH46898;STS-Z40472;WASF3_3777;WI-22261 Brush-1;KIAA0900;SCAR3;WAVE3 OTTHUMP00000018160;WASP family Verprolin-homologous protein 3;WASP family protein member 3;protein WAVE-3;verprolin homology domain-containing protein 3;wiskott-Aldrich syndrome protein family member 3 APPROVED protein-coding ENSG00000132970 12734 05458 605068 REVIEWED 4140866 WASIR1 WASH and IL9R antisense RNA 1 X X q28; Yq12 154897479 154899770 - 59347608 59349582 - 11181995 100128260 AJ271736;CH471247;XM_003119200;XR_110938;XR_113324 EAW55887;XP_003119248 1815082;1831326;1838628;2046584;2104306;2104308;2104310 ECD08574;ECD16799;ECD20488;REN94418;stSG608809;stSG608810;stSG608811 NCRNA00286B hCG_1742852;non-protein coding RNA 286B APPROVED miscrna 38513 2299988 WASH2P WAS protein family homolog 2 pseudogene 2 2 q13 114057453 114074065 + 114341230 114356614 + 6480464 18159949;16344560;15233989;12477932;11701968;10655549;20936779;21832049;21900206;21906983 375260 Q6VEQ4;Q6VEQ5 AF328424;AK292759;AK308574;AL078621;AL137714;AMYH01010967;AY217347;AY341936;AY341937;BC015400;BC027921;BC063459;BC073149;BC073913;BC082240;BC093083;BC106020;BX377099;BX537637;DA685507;NR_024077 AAO45100;AAQ76875;AAQ76876;BAF85448;CAB70887;CAD97803 Hs.446466;Hs.459573;Hs.709408 1687457;1813658;5014053;5014366;5038400;5096857 D1S3693;ECD03212;ECD07852;ECD09355;ECD12236;RH26395 DKFZp434K1323;FAM39B;FLJ77647;FLJ98615;MGC104889;MGC111476;MGC117230;MGC52000;MGC90409 pseudo ENSG00000146556 33145 17562 VALIDATED 1626557 WASH1 WAS protein family homolog 1 Y 9 p24.3 57764816 57767433 - 14511 29739 - 6480464 18159949;15233989;15146197;14702039;12477932;11701968;10655549;8889548;19922874;19922875;20175130;22939629;20923837;21906983;22114305;22513087 100287171 A8K0Z3;Q9NSV7 AK024448;AK024481;AK289708;AK309568;AL928970;AMYH01019166;AMYH01019167;BC014406;BC063893;BC094860;BM970740;CN404407;NM_182905;XM_003960436;XM_003960437;XM_003960438;XM_003960439;XM_003960440 A8K0Z3;AAI56860;AAI60141;BAB15738;BAB15771;BAF82397;NP_878908;XP_003960485;XP_003960486;XP_003960487;XP_003960488;XP_003960489 Hs.446466;Hs.459573;Hs.461200;Hs.521961;Hs.585931;Hs.709408 1687457;1712126;5014366;5038400;5105066;5105068;5105070 ECD09355;ECD12236;G54113;RH26395;stSG608804;stSG608805;stSG608806 DKFZp434K1323;FAM39E;FLJ00038;FLJ75027;FLJ99609;MGC190539;MGC193256;WASH CXYorf1-like protein on chromosome 9;FLJ00075 protein;WAS protein family homolog 1;family with sequence similarity 39, member E protein-coding 24361 613632 VALIDATED 1602140 WASH6P WAS protein family homolog 6 pseudogene X X;Y q28;Yq12 59354670 59358343 + 155251323 155255337 + 18159949;15252450;15233989;14702039;12566406;12477932;11701968;10655549;20498093;20308062;21906983;18029348 653440 I3L0A4;Q9NQA3 AJ271736;AMYH01023351;BC029274;EU240546;EU240556;NG_008380 ABX71499;ABX71509;CAB96818;Q9NQA3 1815082;1831326;1838628;2104304;2104306;2104308;2104310;5096857 ECD03212;ECD08574;ECD16799;ECD20488;stSG608807;stSG608809;stSG608810;stSG608811 CXYorf1;FAM39A;FLJ77647;WASH pseudo 31685 16814 INFERRED 1606389 WASH3P WAS protein family homolog 3 pseudogene 15 15 q26.3 100318539 100334331 + 102501016 102516808 + 6480464 18159949;16344560;14702039;12477932;11701968;10655549;15489334;16572171;16341674;21832049;21906983 374666 C4AMC7 ABBA01001210;ABBA01001211;AC140725;AF282037;AK056232;AK057951;AK095183;AK097269;AK290087;AK291582;AK295256;AK300161;AMYH01006975;AMYH01006976;AMYH01006977;AW604905;BC048328;BC063555;BC067227;BC110991;BC110996;BI830790;BI830792;BM839085;BQ722707;BQ935819;BQ937971;BX452679;DA065132;NR_003659;XR_172490 BAF82776;BAF84271;BAG53001;BAG58245;BAG61944;C4AMC7 Hs.459573;Hs.585931 1712126;5038310 ECD06306;G54113 FAM39DP;FLJ25222;FLJ57306;FLJ75027;FLJ77846;FLJ78059;MGC117230;MGC52000 pseudo 24362 16921 VALIDATED 4145492 WASH7P WAS protein family homolog 7 pseudogene 1 1 p36.33 815 19919 - 14362 29370 - 12477932;14702039;16344560;18159949 653635 AK092583;AK294377;AK296182;AK302089;AK308540;AK308566;AK309926;AK310121;AK310139;AK316487;AL627309;AMYH01000002;BC053987;BC063470;BC094698;BU616084;DA054875;DA143319;NR_024540 BAG52575;BAG57635;BAG58914;BAG63476;BAH14858 Hs.446466;Hs.459573;Hs.461200;Hs.585931;Hs.709408 1712126;5014366;5038400;5105066 ECD09355;ECD12236;G54113;stSG608804 FAM39F;FLJ35264;FLJ50976;FLJ51139;FLJ99967;WASH5P pseudo ENSG00000227232 38034 VALIDATED 6483731 WBP1LP2 WW domain binding protein 1-like pseudogene 2 7 107268911 107269992 + 100506330 AACC02000004;ABBA01057906;AC078937;AMYH01017830;CH236947;NG_029261 1690288 RH91995 pseudo 43949 INFERRED 1625137 WBP11P1 WW domain binding protein 11 pseudogene 1 18 18 18 q12.1 26898592 26901563 + 28345624 28348595 + 30091626 30094597 + 12477932 441818 ABBA01022484;AC009835;AMYH01008930;BC059403;NR_003558 Hs.549773 HsT3017 pseudo ENSG00000260389 26250 PROVISIONAL 2301390 WBP2P1 WW domain binding protein 2 pseudogene 1 18 18 18 q11.2 19411377 19412147 - 20850395 20851165 - 22596397 22597167 - 11181995 147468 ABBA01022594;AC104961;AMYH01008894;CH471088;NG_006941 EAX01199 pseudo 31695 INFERRED 1312705 WBP1 WW domain binding protein 1 The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011] 2 2 2 p12 74516766 74519199 + 74539085 74541518 + 74685527 74688018 + 1580863;6480464 15064722;7644498;15489334;14702039;12477932;9202023;9169421;11604498;15146197;21981024;21078624;21841196 23559 A8MX15;B8ZZ95;C9JLM6;Q96G27 AA635803;ABBA01075601;AC005041;AF087888;AK094297;AK315745;AMYH01010454;BC010012;BC064482;BC071626;BC071850;CH471053;CN403791;NM_012477;U79457 AAD10950;AAH10012;AAH64482;AAH71626;AAH71850;AAP97187;ABM84001;ABW03564;BAG38099;EAW99656;NP_036609;Q96G27 Hs.516114 1651222;1770666;1797200;2110801;5019555;5111436;7187585 D2S1978;D6S304;G54081;RH78317;SHGC-31624;WBP1;WBP1_9371 MGC15305;WBP-1 OTTHUMP00000160417;OTTHUMP00000160418;OTTHUMP00000202627;OTTHUMP00000202628;WW domain-binding protein 1 APPROVED protein-coding ENSG00000239779 12737 09510 606961 REVIEWED 1317378 WBP11 WW domain binding protein 11 This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008] 12 12 12 p12.3 20084400 20101388 - 14830679 14847668 - 14939412 14956401 - 1580863;6480464;6907045 16713569;10593949;17081983;16189514;16162498;15635413;15489334;14640981;12477932;11375989;10744724;16169070;17332742;11054566;16000308;16120600;19592703;16055720;22939629;21139048;21890473;22321011;18654987 51729 F5GXS9;F5H5G4;F5H721;Q9Y2W2 AB029309;ABBA01067886;AC007655;AC010168;AF118023;AK297410;AK302244;AMYH01004303;BC001621;BC016441;BC023532;BX647347;CH471094;NM_016312 AAD30425;AAH01621;AAH16441;AAH23532;ABM83466;ABM86677;BAA88410;BAG59845;BAG63596;EAW96328;EAW96329;NP_057396;Q9Y2W2 Hs.655138 1665939;1733604;1736308;2126361 D12S1247E;D12S932;STS-H03835;WI-18587 DKFZp779M1063;NPWBP;SIPP1;WBP-11 Npw38-binding protein NpwBP;OTTHUMP00000239327;OTTHUMP00000239328;SH3 domain-binding protein SNP70;WBP-11;WW domain-binding protein 11;splicing factor that interacts with PQBP-1 and PP1;splicing factor, PQBP1 and PP1 interacting APPROVED protein-coding ENSG00000084463 16461 18293 REVIEWED 1344485 WBS2 Williams-Beuren syndrome type 2 1583646 7457 12740 1347655 WASL Wiskott-Aldrich syndrome-like This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013] 7 7 q31.3 123109233 123176352 - 123321997 123389116 - 1299640;1580863;6480464;6484113;6907045 9322739 14732713;16253999;16293614;17474147;9422512;18029348;19262673;19213734;18708039;18667055;18430734;18191793;17985201;17573773;17085436;16885158;16767080;16687395;16531231;16246732;15699051;15489334;15260990;15169891;15102814;14702039;12872157;12871950;12853948;12477932;12456725;12437929;12372256;11830518;11698281;11584276;11340081;11179684;11146629;11082044;11052943;10867004;10781580;10724160;10704453;10563804;10491394;10467124;10381382;10087612;9950691;9822597;9582270;14506234;15791211;20146487;22585739;20678498;20730103;20936779;20095995;16055720;20880986;18662323;22559840;23273897;21533546;21832049;22939629;21785420;21677511;21610097;23549080;21769917;22558309;12672817;19531213;11231575;19322201;15894313;21706016;21988832;23212915;22139419;11331876;12732638;16344560 8976 O00401 AACC02000001;ABBA01057728;ABBA01057729;AC006333;AK023554;AK131016;AK289795;AM295156;AMYH01017905;BC013776;BC028602;BC052955;CB990698;CF593336;CH236947;CH471070;CR749438;D88460;DB380642;E15468;NM_003941 AAH52955;BAA20128;BAF82484;CAH18276;CAL26602;EAL24333;EAW83599;NP_003932;O00401 Hs.143728;Hs.731519 1336398;1754709;1757465;1773619;2146062;7187509 D7S2879;D7S487;RH69244;SHGC-144840;SHGC-152662 DKFZp779G0847;MGC48327;N-WASP;NWASP OTTHUMP00000211994;Wiskott-Aldrich syndrome gene-like;neural Wiskott-Aldrich syndrome protein APPROVED protein-coding ENSG00000106299 12735 05448 605056 REVIEWED 1604730 WBP2NL WBP2 N-terminal like WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008] 22 22 22 q13.2 26200953 26230676 + 40724738 40754425 + 42394729 42424479 + 6480464 17289678;16344560;15461802;12477932 164684 F5H7L2;F8WCF8;F8WDR4;Q6ICG8 ABBA01055660;ABBA01055661;AF393575;AK128138;AK129656;AK296138;AMYH01012807;AMYH01012808;BC022546;BC022549;CH471095;CR456400;DB079211;NM_152613;Z99716 AAH22546;AAH22549;AAQ02873;BAG54636;BAG58880;CAG30286;EAW60483;NP_689826;Q6ICG8 Hs.655541 1662902;1687323;2160451 AL008657;D22S1261;D22S410E FLJ26145;MGC26816;PAWP OTTHUMP00000199645;OTTHUMP00000199646;OTTHUMP00000199647;OTTHUMP00000199648;WW domain-binding protein 2-like;postacrosomal sheath WW domain-binding protein APPROVED protein-coding ENSG00000183066 28389 14512 610981 VALIDATED 1351341 WBSCR2 Williams-Beuren syndrome chromosome region 2 8812460 7459 12746 1352656 WBP5 WW domain binding protein 5 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008] X X X q22.2 103050382 103052399 + 102498036 102500053 + 102611380 102613397 + 737633;6480464 12477932 17353931;15772651;15489334;10931946;9171351;21139048;21890473;21906983;22505724 51186 Q9UHQ7 ABBA01021041;AF125535;AK312190;AL833152;AMYH01022797;BC023544;BG400091;BQ003038;CH471190;NM_001006612;NM_001006613;NM_001006614;NM_016303;Z92846 AAF17229;AAH23544;ABZ92330;BAG35123;EAW54713;NP_001006613;NP_001006614;NP_001006615;NP_057387;Q9UHQ7 Hs.533287 2141480;2141482 A006A03;G20641 DKFZp313K1940;TCEAL9 OTTHUMP00000023739;OTTHUMP00000023740;WBP-5;WW domain binding protein 1;WW domain-binding protein 5;pp21 homolog APPROVED protein-coding ENSG00000185222 30084 06621 REVIEWED 1314041 WBP1L WW domain binding protein 1-like 10 10 10 q24.32 98244781 98316734 + 104493717 104566011 + 104503727 104576021 + 6480464 16709928;16344560;15489334;15164054;14702039;12934113;12477932;9110174;8619474;16712791;16385451;22990118;21139048;21906983;22120523 54838 Q9NX94;Q9NXM7 ABBA01063132;ABBA01063133;ABBA01063134;ABBA01063135;ABBA01063136;AF070644;AK000161;AK000374;AK056285;AK300871;AK308843;AK316452;AL353727;AL358790;AL391121;AMYH01003020;AU253840;AY656171;AY656172;AY656174;AY656175;BC010506;BC063659;BC073886;BC113857;BC114465;BE207569;BI601510;BQ924256;CB130248;CF455358;CH471066;CX163170;DA797839;NM_001083913;NM_017787 AAI13858;AAI14466;AAV68559;AAV68560;AAV68561;AAV68562;BAA90983;BAA91122;BAG51666;BAH13363;BAH14823;EAW49673;EAW49674;NP_001077382;NP_060257;Q9NX94 Hs.500897;Hs.693257;Hs.707763 1781984;1855933;2129275 D16S3342;RH64833;SHGC-144687 C10orf26;FLJ20154;FLJ20367;MGC125648;OPA1L;OPAL1 OTTHUMP00000020381;WW domain binding protein 1-like;outcome predictor in acute leukemia 1 APPROVED protein-coding ENSG00000166272 23510 12567 611129 VALIDATED 1347580 WBSCR25 Williams Beuren syndrome chromosome region 25 171021 18288 1342590 WBSCR26 Williams Beuren syndrome chromosome region 26 (non-protein coding) q11.23 171022 BU595969 Hs.650513 NCRNA00035 protein-coding 18289 612545 1348215 WBP2 WW domain binding protein 2 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by its PY motifs. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] 17 17 17 q25 70431829 70441550 - 71353375 71363096 - 73841780 73851501 - 1580863;6480464 20972459;11042109;7644498;16772533;16344560;16094384;15489334;14702039;14531730;12477932;9202023;9169421;16751776;16169070;19364824;16055720;22939629;21981024;16196087;21399621;18624398;19953087;21139048;21906983;21963094;23000965;23233354 23558 A6NG10;B4DFG2;K7EIJ0;K7EIK1;K7EIN1;K7EJ75;K7EMC9;K7ENL2;K7ESN4;Q969T9 ABBA01028767;AC087289;AF087866;AK057881;AK094458;AK128407;AK293214;AK294082;AK294155;AK300875;AL049981;AMYH01008635;BC007452;BC010616;CH471099;DA278794;DQ570783;NM_012478 AAH07452;AAH10616;AAP97175;ABM81978;ABM85157;BAG56753;BAG57423;BAG57479;BAG62519;CAH56417;EAW89325;EAW89326;EAW89327;EAW89328;EAW89329;NP_036610;Q969T9 Hs.514489 1694466;2110035;5037552 D8S2279;G42954;WBP2_9370 MGC18269;WBP-2 WW domain-binding protein 2 APPROVED protein-coding ENSG00000132471 12738 06097 606962 REVIEWED 1348548 WBP4 WW domain binding protein 4 This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008] 13 13 13 q14.11 22693135 22715573 + 40533697 40556139 + 41635697 41658139 + 727741;1580863;6480464 9724750 15489334;15057823;14702039;12477932;10748127;8605874;15837427;11604498;19592703;9171351;16055720;21917930;18029348;23000965;23266558 11193 B7Z4M2;O75554 ABBA01021283;AF071185;AK000979;AK001557;AK297536;AK314525;AL157877;AMYH01005061;BC104879;BC108310;CH471075;NM_007187 AAC34811;AAI04880;AAI08311;BAG37119;BAG50940;BAH12608;EAX08643;EAX08644;NP_009118;O75554 Hs.411300 2110037;2170229;5017757 A007J30;WBP4;WBP4_9240 FBP21;MGC117310 OTTHUMP00000018311;WBP-4;WW domain-binding protein 4;WW domain-containing binding protein 4;WW domain-containing-binding protein 4;domain-containing binding protein 4;formin binding protein 21;formin-binding protein 21 APPROVED protein-coding ENSG00000120688 12739 16086 604981 REVIEWED 1353299 WBSCR3 Williams-Beuren syndrome chromosome region 3 8812460 7460 12747 1342451 WBSCR17 Williams-Beuren syndrome chromosome region 17 This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013] 7 7 7 q11.23 63974185 64554073 + 70235725 70816519 + 70597789 71178584 + 6480464;6907045 19240061;15744064;15489334;14702039;12690205;12477932;12073013;11013070;7566098;20379614;22566498;23377640;22787146 64409 H7BZX9;Q2L4S5;Q6IS24 AACC02000046;AACC02000047;AACC02000048;AB078148;ABBA01064015;ABBA01064016;ABBA01064017;ABBA01064018;ABBA01064019;ABBA01064020;ABBA01064021;ABBA01064022;ABBA01064023;AC004874;AC004963;AC073330;AC079398;AC091731;AC092021;AF410457;AJ626726;AK022143;AK091379;AK094958;AK126044;AK290036;AL137431;AMYH01017523;AMYH01017524;AMYH01017525;AMYH01017526;BC067524;BC067525;BC069624;BC069628;BC069636;BC069645;BC069997;BE669980;CH236952;CH471140;CR749675;NM_022479 AAH67524;AAH67525;AAH69624;AAH69628;AAH69636;AAH69645;AAH69997;AAM62306;BAD93180;BAF82725;BAG52344;BAG52964;BAG54282;CAB70734;CAF25037;CAH18466;EAL23969;EAX07897;EAX07898;EAX07899;EAX07900;NP_071924;Q6IS24 Hs.488591 1339563;1653337;1654048;1655936;1674159;1689149;1750987;1779248;1786504;1786508;1851548;1854595;1855693;1855784;1856611;2143835;2146826;2165016;2165643;5094422 D7S1407;D7S1568;D7S1979;D7S2270E;D7S2516;G17161;G54788;GDB:1317364;GDB:3754866;GDB:3778209;GDB:4584959;GDB:4585200;RH65189;RH66296;SHGC-104886;SHGC-153010;SHGC-83093;SHGC-84166;STS-H15176;WI-20075 DKFZp434I2216;DKFZp761D2324;GALNACT17;GALNT16;GALNT20;GALNTL3 OTTHUMP00000160211;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3;UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3;UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16;galNAc-T-like protein 3;polypeptide GalNAc transferase-like protein 3;polypeptide N-acetylgalactosaminyltransferase WBSCR17;pp-GaNTase-like protein 3;pp-GalNAc-transferase 20;protein-UDP acetylgalactosaminyltransferase-like protein 3;putative polypeptide N-acetylgalactosaminyltransferase-like protein 3;williams-Beuren syndrome chromosomal region 17 protein APPROVED protein-coding ENSG00000185274 16347 15655 615137 REVIEWED 1316823 WBSCR16 Williams-Beuren syndrome chromosome region 16 This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 7 7 7 q11.23 68097529 68130598 - 74094219 74127635 - 74456283 74489699 - 1580600;1580863;6480464 12073013 16381901;15489336;15489334;12477932;11230166;11076863;22990118;22939629;20186120;18624398;21139048;21906983;21988832;23275563 81554 C9JWG9;F5GX55;F5H6C7;Q96I51 ABBA01014633;ABBA01014634;AC124781;AC245150;AF410455;AI701939;AK057870;AK309117;AL136804;AL536085;AMYH01017552;BC007823;BC019008;BC032712;BC040695;BC157844;BU625907;CH471292;NM_001281441;NM_030798;NM_148842 AAH07823;AAH19008;AAH32712;AAH40695;AAI57845;AAM62304;ABM84095;CAB66738;CAL37561;EAW52090;EAW52091;EAW52092;NP_001268370;NP_110425;NP_683682;Q96I51 Hs.723684 1684950;1768303;1790427;1791149;2150838;2160106;2174042;5110708 A002S25;D7S1411;D7S3286;GDB:4585211;RH93206;SHGC-31781;SHGC-56087;WBStel1_(HSC246) DKFZp434D0421;MGC189739;MGC44931 OTTHUMP00000160908;RCC1-like G exchanging factor-like protein;Williams-Beuren syndrome chromosomal region 16 protein APPROVED protein-coding ENSG00000174374 14948 15654 REVIEWED 1354166 WBSCR23 Williams-Beuren syndrome chromosome region 23 This gene is intronless and mapped to the commonly deleted region for Williams-Beuren Syndrome. 7 q11.23 73584557 73585479 + 1580863 14702039;12853948;12477932 80112 A0AVD7;Q9H6D5 AC004851;AK026020;BC126309;CH471200;NM_001039145 A0AVD7;AAI26310;AAS00363;BAB15324;EAW69602;NP_001034234;Q9H6D5 Hs.677364 FLJ22367 protein-coding 16498 15660 6481372 WDFY3-AS1 WDFY3 antisense RNA 1 100874023 AC095046 APPROVED miscrna 40935 1602434 WBSCR28 Williams-Beuren syndrome chromosome region 28 7 7 7 q11.23 68754191 68758926 + 72913425 72918159 + 73275489 73280223 + 6480464 12477932;8812460 135886 Q6UE05 AA426067;ABBA01063934;ABBA01063935;AC093168;AMYH01017539;AY372053;AY372054;BC030643;CH471200;HC007380;HC044591;NM_182504 AAH30643;AAQ74835;AAQ74836;ACT64528;ACT64529;CBH19495;CBH30625;EAW69637;NP_872310;Q6UE05 Hs.647026 1676268;1746477 G64384;RH99041 MGC26719 OTTHUMP00000211821;Williams-Beuren syndrome chromosomal region 28 protein;Williams-Beuren syndrome critical region 28 protein-coding ENSG00000175877 23018 15662 612547 VALIDATED 1352777 WBSCR27 Williams Beuren syndrome chromosome region 27 This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008] 7 7 7 q11.23 68727572 68735487 - 72886856 72894791 - 73248920 73256855 - 6480464 18398435;15961456;15489334;12477932;21906983 155368 B4DWM3;Q8N6F8 ABBA01063936;ABBA01063937;AC093168;AF534110;AK301597;AMYH01017538;AMYH01017539;AY354928;BC030295;CH471200;NG_023289;NM_152559 AAH30295;AAN63884;AAQ55828;ABM85581;BAG63085;EAW69638;NP_689772;Q8N6F8 Hs.647042 MGC40131 OTTHUMP00000160508;Williams-Beuren syndrome chromosomal region 27 protein APPROVED protein-coding ENSG00000165171 19068 15661 612546 REVIEWED 1344086 WBSCR22 Williams Beuren syndrome chromosome region 22 This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011] 7 7 7 68576112 68590746 + 72735834 72750478 + 73097898 73112551 + 1580601;1580863;6480464;6907045 11978965 15498874;15489334;14702039;12853948;12477932;12073013;11124703;15635413;21145461;17207965;17213182;22939629;21148752;8889548;8889549;15342556;16341674;16344560;19471022;20972266;21139048;21890473;21906983;22505724 114049 B3KR83;C9K060;E9PCQ7;F2Z3D9;F8WD67;F8WD87;H7C0G4;H7C170;H7C439;O43709 AA099700;AA508840;ABBA01063942;AC073846;AF218007;AF412034;AF420248;AJ224442;AK091162;AK126224;AK291116;AK296375;AK309574;AK315032;AMYH01017537;BC000169;BC001780;BC011696;BG108222;BM671506;BM794274;BP280183;BQ927478;BQ930813;BQ961799;CH471200;DB276687;DT220127;NM_001202560;NM_017528;NR_037776;NR_045512 AAG17249;AAH00169;AAH01780;AAH11696;AAL16066;AAM62316;AAS07473;AAS07474;ADQ31623;BAF83805;BAG37517;BAG52295;BAG59049;CAA11944;EAW69656;EAW69657;NP_001189489;NP_059998;O43709 Hs.647063 1673110;1700118;1780058;2107763 RH103672;SHGC-154307;SHGC-56098;WBSCR18__5080 FLJ44236;HASJ4442;HUSSY-3;MERM1;MGC19709;MGC2022;MGC5140;PP3381;WBMT OTTHUMP00000160499;OTTHUMP00000211784;Williams Beuren syndrome chromosome region 22 protein;Williams-Beuren candidate region putative methyltransferase;Williams-Beuren syndrome chromosomal region 22 protein;metastasis-related methyltransferase 1;uncharacterized methyltransferase WBSCR22 APPROVED protein-coding ENSG00000071462 16405 15659 REVIEWED 2290199 WDFY3-AS2 WDFY3 antisense RNA 2 4 4 4 q21.3 83178285 83218557 + 86105897 86107224 + 85887971 85928168 + 15580561;14702039;12477932;12136098 404201 ABBA01063485;ABBA01063486;AC108021;AJ333364;AK124663;AMYH01014365;AY250185;BC019264;BC033127;BC101193;BC101194;BC101195;BC101196;CH471057;NR_015359 AAP76295;EAX05957;EAX05958 Hs.720920 1646303;1680413;1715783;1719561;1857598;2165857;2220660 D4S1204;RH119340;RH123684;RH93412;SHGC-50898;SHGC-53374;UniSTS:487344 C4orf12;FBI4;MGC120078;MGC120079;NCRNA00247 APPROVED miscrna ENSG00000180769 21603 13317 PREDICTED 1314357 WDFY1 WD repeat and FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains a single FYVE domain and multiple WD40 repeats. This protein is localized to endosomes. [provided by RefSeq, Jul 2008] 2 2 2 q36.1 218505977 218575969 - 224448309 224518296 - 224740065 224810052 - 6480464 11739631;15489334;14702039;12477932;10718198;17207965;22939629;19322201 57590 C9JJ54;Q8IWB7;Q9H8N9 AA411290;AB037856;ABBA01023779;ABBA01023780;ABBA01023781;ABBA01023782;ABBA01023783;AC073641;AF411977;AJ310568;AK022888;AK023415;AMYH01011523;AMYH01011524;BC040525;BC065934;BF223120;CH471063;N27710;NM_020830 AAH40525;AAH65934;AAL04161;AAY14924;ADQ32465;BAA92673;BAB14294;BAB14569;CAC83947;EAW70817;EAW70818;NP_065881;Q8IWB7 Hs.368359 1651782;1673846;1700540;1725117;2107765;2142443;5491515 MARC_16705-16706:1018020718:3;RH103891;RH118856;SGC33461;WDFY1__5083;WI-11505;WI-12299 FENS-1;WDF1;ZFYVE17 OTTHUMP00000203772;WD repeat and FYVE domain-containing protein 1;WD40 and FYVE domain containing 1;WD40- and FYVE domain-containing protein 1;phosphoinositide-binding protein 1;phosphoinositide-binding protein SR1;zinc finger FYVE domain-containing protein 17 APPROVED protein-coding ENSG00000085449 20451 15663 REVIEWED 1350991 WDFY4 WDFY family member 4 10 10 10 q11.23 43479368 43776620 + 49638068 49861006 + 49893518 50191001 + 737633;6480464 12477932 18519826;15489334;14702039;11181995;10997877;8889548;19165918;16385451;17903303;19838193;20169177;20379614;22041458;21890473;23273568;22972472 57705 F8WCU4;H3BLT2;H7BYA1;Q6ZS81 AB046827;ABBA01047227;ABBA01047228;ABBA01047229;ABBA01047230;ABBA01047231;AC035139;AC060234;AC068898;AK024502;AK074085;AK074443;AK093607;AK127650;AK301736;AK310374;AL833669;AMYH01002640;BC015694;BC032420;BC034937;BC047574;BM470200;CF142817;CH471187;JA738647;NM_020945 AAH15694;AAH32420;AAH34937;AAH47574;BAB13433;BAB15792;BAB84911;BAC87073;BAG63201;CCF76976;EAW93117;EAW93118;EAW93119;EAW93120;EAW93121;EAW93122;NP_065996;Q6ZS81 Hs.287379 1335089;1340447;1712717;1716747;1759243;1759355;1765749;1766865;1771301;1782010;2136349;5019196 D10S1772;D10S1793;RH104460;RH121055;RH121666;SHGC-13327;SHGC-147577;SHGC-149181;SHGC-150840;SHGC-151177;SHGC-152280;WI-10599 C10orf64;FLJ17416;FLJ36288;FLJ45748;KIAA1607;MGC40604;MGC45899 OTTHUMP00000019564;WD repeat- and FYVE domain-containing protein 4;protein WDFY4 protein-coding ENSG00000128815 29323 613316 VALIDATED 1316474 WDFY2 WD repeat and FYVE domain containing 2 This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008] 13 13 13 q14.3 33207683 33385373 + 51056485 51234172 + 52158484 52336171 + 6480464 17313651;16873553;16792529;16344560;15489334;14702039;12477932;17207965 115825 Q96LK4;Q96P53 ABBA01051050;ABBA01051051;AF411978;AK058149;AK093224;AK309815;AK311177;AL136525;AL139183;AMYH01005116;BC014004;CH471075;DA124107;NM_052950 AAH14004;AAL04162;ADQ32635;BAB71687;EAX08883;NP_443182;Q96P53 Hs.208550 1652916;1676113;1693940;1718095;1760441;2113430;2142424;2173094;5093918 A009Y48;D13S1683;D13S1779;G33000;G42664;G57756;RH68761;RH80537;SHGC-142696 PROF;RP11-147H23.1;WDF2;ZFYVE22 OTTHUMP00000018795;WD repeat and FYVE domain-containing protein 2;WD40 and FYVE domain containing 2;WD40- and FYVE domain-containing protein 2;propeller-FYVE protein;zinc finger FYVE domain-containing protein 22 APPROVED protein-coding ENSG00000139668 20482 18294 610418 REVIEWED 6769088 WDR11-AS1 WDR11 antisense RNA 1 10 q26.13 122521324 122610691 - 14702039;23251661 283089 ABBA01062871;ABBA01062872;ABBA01062873;AK094649;AL391425;AMYH01003125;BC043378;NR_033850 Hs.568750 1782174;5015861;5024761;5037552;5118444;7185938 D10S16;D11S3316;D8S2279;RH36905;SHGC-155977 APPROVED miscrna ENSG00000227165 27437 VALIDATED 1316086 WDFY3 WD repeat and FYVE domain containing 3 This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010] 4 4 4 q21.23 82881176 83177858 - 85809719 86106568 - 85590690 85887544 - 6480464 15489334;15292400;14702039;12477932;12168954;10231032;9847074;9110174;8889548;8619474;17207965;17452356;20168092;20379614;20417604;20493804;21150266;21139048;21890473;21906983;20971078 23001 D6RJE4;H0Y9T6;H0YAD8;Q9Y2J7 AB023210;ABBA01063483;ABBA01063484;ABBA01063485;AC095046;AC104082;AC108021;AC110806;AF131845;AF538685;AI393222;AI962188;AK055806;AK092019;AK092394;AK094910;AMYH01014365;BC013377;BC015214;BC065502;BC119633;BC148294;BC148298;BC150246;BE221984;BM676710;BQ003872;BX648077;BX648153;CH471057;EF491804;EF491819;NM_014991 AAH13377;AAH15214;AAH65502;AAI19634;AAI48295;AAI48299;AAI50247;AAN15137;AAY40903;ADQ31600;BAA76837;BAB71020;BAC04455;EAX05952;EAX05953;EAX05954;EAX05955;EAX05956;NP_055806;Q8IZQ1 Hs.480116;Hs.726339 1647193;1654443;1665584;1674367;1679924;1856934;2117001;2130875;2157640;2220660;5093072 A009F15;G32503;RH98912;SHGC-24706;SHGC-36045;SHGC-59568;SHGC-59794;SHGC-60031;SHGC-67812;STS-N26993;UniSTS:487344 ALFY;KIAA0993;MGC16461;ZFYVE25 OTTHUMP00000160978;WD repeat and FYVE domain-containing protein 3;autophagy-linked FYVE protein APPROVED protein-coding ENSG00000163625 20751 10304 REVIEWED 1603046 WDPCP WD repeat containing planar cell polarity effector This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. [provided by RefSeq, Feb 2011] 2 2 2 p15 63193063 63660892 - 63202022 63669355 - 63348518 63815867 - 6480464 18464913;15654087;14702039;12477932;9110174;8619474;19913121;20628086;20671153;20301537;23251661 51057 C9JDS5;E9PFG9;F8WBT2;H7BZ13;H7C375;O95876 ABBA01075398;ABBA01075399;ABBA01075400;ABBA01075401;ABBA01075402;ABBA01075403;ABBA01075404;AC009501;AC016734;AC067953;AC074367;AC079353;AF131737;AK001849;AK022647;AK055030;AK309028;AK310290;AL833623;AMYH01010396;BC093752;BC093754;BC143426;BX538331;BX647132;CH471053;NG_028144;NM_015910 AAD20026;AAH93752;AAH93754;AAX93089;AAX93096;AAY24034;AAY24358;BAG51100;CAD98100;EAW99964;EAW99965;NP_056994;O95876 Hs.414952 1659947;1716901;1731799;1739033;1787706;2136282;2143653;2185367;5015607;5015609;5022637;5022651;5024266;5109913;5118412 D11S2715;D11S2766;D11S2921;D11S3014;D11S3026;D11S3270;D2S1745;D2S1885;D2S2753;D2S402;RH12136;RH121743;RH36254;SHGC-15055;SHGC-172996 BBS15;C2orf86;DKFZp686C12204;FRTZ;hFrtz Bardet-Biedl syndrome 15 protein;OTTHUMP00000201953;OTTHUMP00000201980;OTTHUMP00000201982;OTTHUMP00000201983;OTTHUMP00000201984;OTTHUMP00000201985;WD repeat-containing and planar cell polarity effector protein;WD repeat-containing and planar cell polarity effector protein fritz homolog;WD repeat-containing protein C2orf86 APPROVED protein-coding ENSG00000143951 28027 14228 613580 REVIEWED 1314033 WDR1 WD repeat domain 1 This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 4 4 p16.1 9685061 9727671 - 10075963 10118573 - 1580863;6480464 15231747;10036186;19165527;18494608;18179892;15629458;15592455;15489334;12665801;12477932;10366597;8125298;1602151;21319273;14630798;17293856;19818632;6457647;20631256;21294900;23382044;22863883;22939629;21139048;21890473;21906983;21963094;18624398;18781797;21900206;21943158;22229870;16009940;22505724 9948 D6RD66;O75083 AB010427;AB209746;ABBA01032511;ABBA01032512;ABBA01032513;ABBA01032514;ABBA01032515;AC005674;AC093664;AF020056;AF020260;AF274954;AK127665;AK222764;AK222897;AK225276;AK291614;AK299602;AK302209;AK303132;AL050108;AL110208;AMYH01013994;BC000201;BC002489;BC030541;BG724171;BI831941;BX648190;CH471069;NG_027876;NM_005112;NM_017491 AAD05044;AAD05045;AAH00201;AAH02489;AAH30541;AAK07530;BAA31855;BAD92983;BAD96484;BAD96617;BAF84303;BAG54546;BAG61533;BAG63567;BAG64237;CAB43276;CAB53674;EAW92686;EAW92687;EAW92688;EAW92689;NP_005103;NP_059830;O75083 Hs.128548 1645075;1731471;1853626;2122204;2166261;2174957;2189231 D4S438E;G41952;G65140;SHGC-33408;SHGC-67675;SHGC-67857;STS-M78652 AIP1;NORI-1 OTTHUMP00000217863;OTTHUMP00000217864;WD repeat-containing protein 1;actin interacting protein 1;actin-interacting protein 1 APPROVED protein-coding ENSG00000071127 12754 09199 604734 REVIEWED 1318273 WDR11 WD repeat domain 11 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008] 10 10 10 q26 116342868 116401238 + 122600685 122659026 + 122610687 122669038 + 1580863;6480464 15489334;15164054;14702039;12684693;12684685;12477932;11536051;10718198;16385451;20562859;20887964;23022380;21822266;18775313;22589738;21139048;21890473;21906983;23251661 55717 Q659C9;Q9BZH6 AB037772;ABBA01062871;AC010998;AF320223;AK000579;AK001368;AK025050;AK124522;AK299524;AK301761;AK315145;AL137699;AL391425;AMYH01003125;BC040469;BC071564;BI912281;CH471066;DC342128;NG_023290;NM_018117;W16996 AAH40469;AAH71564;AAK08064;BAA91269;BAA91652;BAA92589;BAG37593;BAG61474;BAG63221;CAH56385;EAW49363;EAW49364;EAW49365;EAW49366;NP_060587;Q9BZH6 Hs.144447 1679726;1705988;2115516;2117599;2117733;2139338;2159204;2176370;5022651 D11S2921;RH44312;RH81052;SHGC-36304;SHGC-36479;SHGC-64316;SHGC-78627;STS-H54750;STS-R08557 BRWD2;DKFZp434L1715;DR11;FLJ42531;HH14;WDR15 OTTHUMP00000020620;WD repeat domain 15;WD repeat-containing protein 11;WD repeat-containing protein 15;WD40 repeat domain 11 protein;bromodomain and WD repeat domain containing 2;bromodomain and WD repeat-containing protein 2 APPROVED protein-coding ENSG00000120008 13831 16218 606417;614858 REVIEWED 1320961 WDHD1 WD repeat and HMG-box DNA binding protein 1 The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 14 14 14 q22.2 35455145 35543313 - 54476692 54563557 - 55405656 55493819 - 1580863;6480464 16344560;21252943;9175701;18029348;17761813;17081983;15489334;15302935;14702039;12477932;19423540;19439411;19805216;20028748;20089864;20379614;20406964;20438785;22863883;22990118;23093411;16051665;22939629;21987584;19471022;21139048;21725360;21890473;21906983;23184928;22505724 11169 C9JW18;C9JYB3;F8W7P7;H3BSQ1;O75717 ABBA01018200;AJ006266;AK001538;AK001585;AK001620;AK293005;AL160471;AMYH01005744;AY517556;BC000622;BC005040;BC043349;BC063041;BQ420741;CB053003;CH471061;DA189308;DB082418;NM_001008396;NM_007086 AAH00622;AAH05040;AAH43349;AAH63041;AAT44529;BAF85694;BAG50934;BAG50944;BAG50951;CAA06932;EAW80654;NP_001008397;NP_009017;O75717 Hs.385998 1661600;1698466;1701612;1717837;2136576 G35898;RH102782;RH104447;RH121830;RH45114 AND-1;CHTF4;CTF4 Acidic nucleoplasmic DNA-binding protein 1;CTF4, chromosome transmission fidelity factor 4 homolog;OTTHUMP00000178995;WD repeat and HMG-box DNA-binding protein 1 APPROVED protein-coding ENSG00000198554 23170 10483 608126 REVIEWED 1349408 WDR17 WD repeat domain 17 This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009] 4 4 4 q34 174315002 174431966 + 177224126 177340960 + 176986985 177103979 + 6480464 17286855;15342556;12401215;12477932;19727342;20379614 116966 E7EP77;E7ESC9;E9PFA2;H0YAE4;H0YAG1;Q8IZU2 ABBA01070410;AC093605;AF492460;AK098748;AK130128;AMYH01014731;AMYH01014732;AMYH01014733;BC118549;BC118627;BC146812;BI713506;BI713775;BM875452;BQ270403;BX648508;CH471056;DB443937;DQ426895;DQ426896;NM_170710;NM_181265 AAI66623;AAN64030;ABD90546;ABD90547;BAC05402;EAX04723;NP_733828;NP_851782;Q8IZU2 Hs.532056;Hs.693278 1749249;2107767;5107143 G65596;SHGC-110938;WDR17__5085 FLJ26618 OTTHUMP00000218990;OTTHUMP00000218991;OTTHUMP00000218992;WD repeat-containing protein 17 APPROVED protein-coding ENSG00000150627 16661 16417 609005 REVIEWED 1347566 WDR13 WD repeat domain 13 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is widely expressed in various tissues. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2009] X X X p11.23 53202158 53209859 - 48340845 48348518 + 48455880 48463582 + 1580863;6480464 18029348;15761153;15489334;14702039;12659815;12477932;8125298;17207965;21987572;21906983 64743 Q06DX0;Q9H1Z4 ABBA01046025;ABBA01046026;ABBA01046027;AC115618;AF149817;AF158978;AF329819;AK000570;AK225542;AK301186;AK314739;AMYH01022290;BC002507;BC067094;BC080579;BI554303;BX649101;CH471224;DQ907252;DQ907253;DQ907254;DQ907255;L08237;NG_015879;NM_001166426;NM_017883;NR_029427 AAA74509;AAG47845;AAH02507;AAH67094;AAH80579;AAK13247;ABI93266;ABI93267;ABI93268;ABI93269;ACE87070;ACE87751;ADQ32017;BAA91261;BAG37280;BAG62769;EAW50760;EAW50761;EAW50762;NP_001159898;NP_060353;Q9H1Z4 Hs.521973 1651917;1701710;2112846;2124226;5014051;5037552;5491619 A007K03;D8S2278;D8S2279;DXS7467E;DXS9867E;MARC_26104-26105:1032794768:1;RH17605 DKFZp779C2057;FLJ20563;MG21 OTTHUMP00000025798;OTTHUMP00000025799;WD repeat-containing protein 13 APPROVED protein-coding ENSG00000101940 14352 06753 300512 REVIEWED 1353160 WDR12 WD repeat domain 12 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008] 2 2 2 q33.2 197498009 197529627 - 203453575 203484639 - 203745323 203776949 - 1580863;6480464 16043514;16738141;17353269;19198609;17041588;15635413;15489334;14702039;12477932;12429849;11827460;11790298;20738937;20971364;21378990;18258596;22863883;22939629;19471022;21139048;21890473;22586326;22952844 55759 Q53T99;Q9GZL7 ABBA01062591;AC010900;AF242546;AK001743;AK022781;AK022782;AK056092;AK299489;AMYH01011414;AMYH01011415;BC008082;BU633688;CH471063;EF011617;NM_018256 AAF60355;AAH08082;AAY24287;ABK41107;ABM83800;ABM87122;BAA91875;BAB14242;BAB14243;BAG51621;BAG61449;EAW70318;EAW70319;NP_060726;Q9GZL7 Hs.73291 1675441;1727833 G63182;RH65532 FLJ10881;FLJ12719;FLJ12720;YTM1 OTTHUMP00000163754;WD repeat-containing protein 12;ribosome biogenesis protein WDR12 APPROVED protein-coding ENSG00000138442 14098 18295 REVIEWED 1348671 WDR16 WD repeat domain 16 WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008] 17 17 17 p13.1 9512279 9579035 + 9420669 9487501 + 9479944 9546776 + 6480464 15967112;16344560;15489334;14702039;12477932;18029348 146845 I3L237;I3L2G9;K7ERC0;Q8N1V2 AB065281;ABBA01054956;ABBA01054957;ABBA01054958;ABBA01054959;AC087501;AC118755;AI553675;AK074435;AK094847;AK315679;AMYH01008099;AMYH01008100;AMYH01008101;BC025392;CH471108;CQ756572;DB040461;NM_001080556;NM_145054 AAH25392;BAB83743;BAB85083;BAC04435;BAG38044;CAF32596;EAW90024;EAW90025;EAW90026;EAW90027;NP_001074025;NP_659491;Q8N1V2 Hs.232270 1728947 D10Bir11 FLJ37528;WDRPUH OTTHUMP00000196460;WD repeat-containing protein 16;WD40-repeat protein up-regulated in HCC;WD40-repeat protein upregulated in HCC APPROVED protein-coding ENSG00000166596 16053 14072 609804 VALIDATED 1606781 WDR25 WD repeat domain 25 14 14 14 q32.2 80897385 81051752 + 99912703 100066393 + 100842755 100996640 + 6480464 16189514;15587985;15489334;12477932 79446 G3V2K8;G3V367;H0YJW0;Q64LD2 ABBA01048526;ABBA01048527;ABBA01048528;ABBA01048529;ABBA01048530;AK291960;AL135838;AL845552;AMYH01006010;AY295082;BC003641;BC007953;BC067872;BX248767;CH471061;CT003969;NM_001161476;NM_024515 AAH03641;AAQ63174;BAF84649;CAD66574;EAW81704;EAW81705;EAW81706;NP_001154948;NP_078791;Q64LD2 Hs.497600 1645254;1674818;1774611;1777118;1855246;2106211;5093884 A007H17;A009Y18;D6S2780;G32980;G35906;RH15763;SHGC-34616 C14orf67;MGC4645 OTTHUMP00000246542;OTTHUMP00000246543;OTTHUMP00000246544;OTTHUMP00000246547;WD repeat-containing protein 25;pre-mRNA splicing factor-like protein-coding ENSG00000176473 21064 14649 VALIDATED 1321673 WDR18 WD repeat domain 18 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 19 19 19 p13.3 916678 926912 + 935328 945569 + 984328 994569 + 6480464 11790298;15635413;15489334;15057824;12477932;21145461;22586326;16169070;19615732;21326211;21182205;22990118;22939629;20360068;21139048;21549307;21900206;21906983;21628590;22190735;22505724 57418 K7EIR0;K7EKX5;K7EML4;Q9BV38 ABBA01002616;AC004528;AC005391;AK131009;AL560525;AMYH01009215;AMYH01009216;AMYH01009217;BC000040;BC001648;CB991338;CH471139;NM_024100 AAC12679;AAH00040;AAH01648;EAW69578;NP_077005;Q9BV38 Hs.325321 Ipi3;MGC2436;R32184_1 Involved in Processing ITS2 3 homolog;WD repeat-containing protein 18 APPROVED protein-coding ENSG00000065268 17956 18296 REVIEWED 1344935 WDR24 WD repeat domain 24 16 16 16 p13.3 934859 940557 - 674703 680401 - 734702 740400 - 6480464 16381901;16189514;15489336;15489334;12477932;11230166;11157797;11076863;19615732 84219 B4DVM5;Q96S15 ABBA01030356;AE006464;AK301146;AL136863;AMYH01006999;BC008025;BC009761;CH471112;NM_032259;Z92544 AAH08025;AAH09761;AAK61244;BAG62737;CAB66797;CAL38177;EAW85751;EAW85752;EAW85753;NP_115635;Q96S15 Hs.459632 C16orf21;DKFZp434F054;JFP7 OTTHUMP00000115488;WD repeat-containing protein 24 protein-coding ENSG00000127580 20852 15665 PROVISIONAL 1353133 WDR19 WD repeat domain 19 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq, Jul 2008] 4 4 4 p14 39621888 39725263 + 38860419 38963825 + 39184024 39287430 + 6480464 18316561;15489334;14702039;12906858;12477932;10997877;8125298;22019273;21963094 57728 B4DGR6;D6R9P6;D6RAI4;D6RBA0;D6RCF7;D6RE75;D6RIE4;H0Y8K9;Q8NEZ3 AB046858;ABBA01004119;ABBA01004120;ABBA01004121;AC093855;AK026780;AK122908;AK225588;AK294730;AK296112;AK304161;AK308803;AMYH01014117;AY029257;BC032578;BC131501;CH471069;NG_031813;NM_025132 AAH32578;AAI72278;AAK38745;BAB13464;BAB15550;BAG57877;BAG58861;BAG65048;EAW92915;EAW92916;EAW92917;EAW92918;EAW92919;EAW92920;EAW92921;NP_079408;Q8NEZ3 Hs.438482 1690880;1731457;1856537;5014865;5022578;5109281;5109360 D12S1332;D17S1238;D1S1423;D1S1425;D4S642;RH98905;SHGC-68104 ATD5;CED4;DYF-2;FLJ23127;IFT144;KIAA1638;NPHP13;ORF26;Oseg6;PWDMP OTTHUMP00000218257;WD repeat membrane protein PWDMP;WD repeat-containing protein 19;intraflagellar transport 144 homolog APPROVED protein-coding ENSG00000157796 18340 10489 608151;614376;614377;614378 REVIEWED 1315150 WDR20 WD repeat domain 20 This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011] 14 14 14 q32.31 82660708 82744515 + 101675965 101759763 + 102606189 102690010 + 6480464 18029348;17081983;15489334;14702039;12477932;8125298;19615732;20147737;19913121;20628086;18925368;22990118;15342556;19850743;21183687 91833 B3KPG5;B3KR43;F5H8E6;G3V5V2;H0YK31;H0YKE8;H0YNU0;Q5JPH5;Q8NCN7 AB209148;ABBA01048489;ABBA01048490;ABBA01048491;AF327354;AK054748;AK056330;AK090580;AK090978;AK130824;AK225852;AK297727;AL133223;AL133558;AL359402;AL832242;AL832500;AMYH01006028;AMYH01006029;AMYH01006030;BC028387;BC030654;BP363522;BX248274;BX647751;CH471061;NM_001242414;NM_001242415;NM_001242416;NM_001242417;NM_001242418;NM_144574;NM_181291;NM_181308;NR_038354 AAH28387;AAH30654;AAL56014;ABM82456;ABM85645;ACE86604;ACE87285;BAD92385;BAG51677;BAG52190;BAG52255;BAG60080;CAB63713;CAD62602;CAI46118;EAW81769;EAW81770;EAW81771;NP_001229343;NP_001229344;NP_001229345;NP_001229346;NP_001229347;NP_653175;NP_851808;NP_851825;Q8TBZ3 Hs.36859 1643616;1690344;1767723;1777757;1788938;1849290;2126634;2162881;2164871;2187208;5037552 A006R04;D8S2279;G09860;G35612;G35770;RH17817;RH44614;RH44863;RH94146;SHGC-34741;UniSTS:224875 DKFZp686B2131;DMR;FLJ27314;FLJ33659;MGC33177;MGC33183 OTTHUMP00000246770;OTTHUMP00000246771;OTTHUMP00000246773;OTTHUMP00000246774;OTTHUMP00000246776;WD repeat-containing protein 20 APPROVED protein-coding ENSG00000140153 19667 11679 REVIEWED 1351994 WDR27 WD repeat domain 27 6 6 6 q27 170567481 170812344 - 169599232 169844084 - 169857303 170102159 - 6480464 12477932;16344560;19913121;20628086;18925368;20451393;20041166;20379614;21980299 253769 A2RRH5;B4DDD4;F2Z2U5;F8VUY7;H7C3H5 ABBA01016112;ABBA01016113;ABBA01016114;ABBA01016115;ABBA01016116;ABBA01016117;ABBA01016118;AK128656;AK131435;AK293148;AL031315;AL135910;AL441927;AL513547;AMYH01016878;AW194823;BC035289;BC040606;BC073148;BC131633;BC142982;BX648854;CH471051;DB292377;DB457719;NM_001202550;NM_182552 A2RRH5;AAI31634;AAI42983;BAC87552;BAD18581;BAG56695;EAW47447;EAW47448;EAW47449;EAW47450;NP_001189479;NP_872358 Hs.131903 1298145;1666454;1672773;1699876;1756169;1757763;1857919;2075148;2139882;2159401;2180631;2181966;7183786;7186771 AFM234YF4;AL022496;D6S281;REN108774;RH103546;RH16333;RH45974;RH46814;SHGC-143020;SHGC-146475;SHGC-35081;WI-18460 MGC43690 OTTHUMP00000242857;WD repeat-containing protein 27 protein-coding ENSG00000184465 21248 11352 VALIDATED 1319678 WDR31 WD repeat domain 31 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 9 9 9 q32 86725549 86750228 - 115117751 115142388 - 116077930 116102620 - 737633;6480464 12477932 19023099;17975119;15489334;14702039;114987;16344560 114987 C9JWF1;F8WDK4;G5E996;Q8NA23 ABBA01042688;ABBA01042689;AK074891;AK093240;AK129868;AK313843;AL137066;AL449305;AL833635;AMYH01021669;BC012352;BC022982;BE870625;BX279630;CH471090;DA209351;DA305733;NM_001012361;NM_145241 AAH12352;ABM84561;ABW03487;BAC04106;BAC11271;EAW87368;EAW87369;EAW87370;EAW87371;EAW87372;EAW87373;NP_001012361;NP_660284;Q8NA23 Hs.133331 1662434;1678621;1730353;1787122;5015365;5015619;5015861;5015961;5016596;5022322;5022578;5022651;5037552;7185938 D10S16;D11S2560;D11S2921;D11S3114;D15S1477;D1S1423;D8S2279;D9S1700;D9S192E;GDB:631802;RH16588;RH92390;SHGC-155271 FLJ35921 OTTHUMP00000021958;OTTHUMP00000215534;WD repeat-containing protein 31 APPROVED protein-coding 21421 18299 REVIEWED 1342520 WDR34 WD repeat domain 34 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 9 9 9 q34.11 102046739 102069942 - 130435761 130458950 - 131395940 131419129 - 737633;6480464 12477932 15489334;15164053;19521662;21963094;23568457;20360068;21900206;21139048;21906983;22505724;21953912 89891 A2A3F8;A2A3F9;Q96EX3 ABBA01043891;AK302098;AL356481;AL555205;AMYH01021748;AMYH01021749;BC001614;BC011874;BG177634;BI910783;CH471090;NM_052844 AAH01614;AAH11874;BAG63480;EAW87814;EAW87815;EAW87816;NP_443076;Q96EX3 Hs.495240 1679069;2118741;2170485;2183097 A006J25;RH12836;RH45959;SHGC-8025 DIC5;MGC20486;RP11-216B9.5;bA216B9.3 OTTHUMP00000022282;WD repeat-containing protein 34 APPROVED protein-coding ENSG00000119333 28296 15666 613363 VALIDATED 1348746 WDR26 WD repeat domain 26 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 1 1 1 q42.13 197763775 197812936 - 222639815 222688335 - 224572845 224622001 - 6480464 15378603;17081983;17041588;15489334;14702039;12477932;8125298;18029348;21042317;11483580;15146197;19446606;19615732;20171191;8889548;22863883;22990118;22939629;16196087;18775313;21183687;21900206;22065575;21139048;21890473;21906983;21320693;17620599;19542561;22797925 80232 C9JCS7;H0Y917;H0Y9R3;Q9H7D7 AB209887;ABBA01009695;ABBA01009696;AC099790;AF130049;AK023023;AK024669;AK027236;AK225061;AK299230;AK307909;AMYH01001767;AY221751;AY304473;BC031471;BC034498;BC041978;BC052301;BC063817;BF509638;BG744504;BU673957;CF786114;CH471098;CN283908;CT002105;EF011612;NM_001115113;NM_025160 AAG35477;AAH31471;AAH34498;AAH52301;AAH63817;AAO67709;AAQ74770;ABK41102;BAB14955;BAD93124;BAG61262;EAW69720;EAW69721;EAW69722;EAW69723;EAW69724;NP_001108585;NP_079436;Q9H7D7 Hs.497873;Hs.729289 1649144;1688074;1750491;1848132;1855795;1858106;2137810;2141953;2183667;5020948 AL009443;G35510;RH99062;SGC32093;SHGC-111798;SHGC-32811;SHGC-56807;SHGC-76410;SHGC-76417;SHGC-76418 CDW2;FLJ21016;GID7;MIP2 CUL4- and DDB1-associated WDR protein 2;GID complex subunit 7 homolog;OTTHUMP00000035756;WD repeat-containing protein 26;myocardial ischemic preconditioning up-regulated protein 2;myocardial ischemic preconditioning upregulated protein 2 APPROVED protein-coding ENSG00000162923 21208 18298 REVIEWED 1315220 WDR35 WD repeat domain 35 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010] 2 2 2 p24.1 19972385 20052221 - 19973505 20053365 - 20110024 20189884 - 737633;1580863;6480464;7240710 12477932 22751097;15489334;14702039;12168954;10718198;20817137;20193664;21473986;22939629;16147992;21890473;21906983;21963094;22987818 57539 B3KR94;F8WB94;H0Y6C0;H7BZK8;Q9P2L0 AB037757;ABBA01018485;ABBA01018486;ABBA01018487;AC013400;AC079145;AK022866;AK091205;AK122917;AK315094;AL832903;AMYH01010148;BC033951;BC036659;BX476609;CH471053;NG_021212;NM_001006657;NM_020779 AAH36659;AAX88936;BAA92574;BAG52306;BAG53797;CAH10636;EAX00838;EAX00839;EAX00840;EAX00841;NP_001006658;NP_065830;Q9P2L0 Hs.205427 1774276;1776481;2169952 D2S1845;RH78124;SHGC-61990 CED2;IFT121;KIAA1336;MGC33196 OTTHUMP00000115921;OTTHUMP00000115922;OTTHUMP00000200517;WD repeat-containing protein 35;intraflagellar transport protein 121 homolog;naofen APPROVED protein-coding ENSG00000118965 29250 15667 613602;613610;614091 REVIEWED 1313630 WDR36 WD repeat domain 36 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008] 5 5 q22.1 110455769 110494099 + 110427870 110466200 + 1580863;6480464;6907045;7240710 19347049;19198610;19150991;19145250;18195223;18172102;17960130;17563723;17353431;16966629;16876519;16723468;16518310;15677485;15635413;15590835;15177553;14702039;12477932;19615732;19860791;20198978;20208534;20816195;20813748;22939629;21182205;21931130;21940795;21252943;21963094;22678362;23000965;22178446;22025897;21139048;21693764;21890473;21906983;21907836;22586326;22174317;22505724 134430 D6R922;D6RFM8;Q68E02;Q8NI36 ABBA01069071;AC008572;AF385437;AK055664;AK074202;AK095312;AL832494;AMYH01015545;BC037427;BC133025;BC136517;CH471086;CR749211;NG_008979;NM_139281 AAI33026;AAI36518;AAM43838;BAC04527;CAH18068;EAW49035;EAW49036;NP_644810;Q8NI36 Hs.533237 1673286;1698288;2121731;2142396;2147837 RH102681;RH35945;RH47364;RH47684;RH71412 DKFZp686I1650;GLC1G;TA-WDRP;TAWDRP;UTP21 OTTHUMP00000158997;OTTHUMP00000223490;OTTHUMP00000223962;OTTHUMP00000223963;T-cell activation WD repeat protein;T-cell activation WD repeat-containing protein;WD repeat-containing protein 36 APPROVED protein-coding ENSG00000134987 30696 10305 609669;609887 REVIEWED 1316699 WDR3 WD repeat domain 3 This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 1 1 1 p12 116700037 116730713 + 118273914 118304572 + 118472372 118503049 + 1580863;6480464;6907045 10395803;16565220;15635413;15342556;14702039;12477932;12429849;11790298;9628821;8889548;20578902;16169070;19615732;20392698;18029348;22939629;22178446;21252943;19471022;21139048;21693764;21890473;21906983;21963094;22586326;23049746;22174317;22505724 10885 Q5TDG3;Q6PDA5;Q9UNX4 AA258068;AB209201;ABBA01068504;AF083217;AK022858;AK292438;AL121993;AMYH01000974;BC058836;BP281064;BU685597;CH471122;NM_006784 AAD45865;AAH58836;BAD92438;BAF85127;BAG51127;EAW56684;EAW56685;EAW56686;NP_006775;Q9UNX4 Hs.310809 1336043;2107769;2219492 D1S2669;PF6__5669;WDR3__5087 DIP2;FLJ12796;UTP12 OTTHUMP00000014051;WD repeat-containing protein 3;dJ776P7.2 (WD repeat domain 3) APPROVED protein-coding ENSG00000065183 12755 16066 604737 REVIEWED 1625454 WDR38 WD repeat domain 38 9 9 9 q33.3 98263706 98268110 + 126655576 126659981 + 127615755 127620160 + 6480464 12477932 401551 B7ZW23;B7ZW24;B9EK65;Q5JTN6 AA867995;ABBA01043757;AL354928;AMYH01021708;BC127949;BC150645;BC171828;BC171830;BC171837;NM_001045476;NM_001276374;NM_001276375;NM_001276376 AAI27950;AAI50646;AAI71828;AAI71830;NP_001038941;NP_001263303;NP_001263304;NP_001263305;Q5JTN6 Hs.343383 OTTHUMP00000022116;WD repeat-containing protein 38 protein-coding ENSG00000136918 23745 VALIDATED 1319455 WDR33 WD repeat domain 33 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 2 q14.3 121772751 121879694 - 128178278 128285215 - 128461808 128568761 - 1580863;6480464 17353931;11162572;17081983;16169070;15761153;14702039;12477932;8889549;22446626;8125298;16344560;8889548;16055720;22939629;22990118;18029348;19596686;21139048;21549307;21890473;21906983;16009940;19322201;22505724 55339 B9A053;C9J8B4;Q9C0J8 AA142986;AB044749;ABBA01040195;ABBA01040196;ABBA01040197;ABBA01040198;ABBA01040199;AC006011;AI039494;AK002156;AK098003;AK123510;AK223319;AL043051;AL834365;AMYH01011021;AMYH01011022;AMYH01011023;AMYH01011024;BC005401;BC010283;BC013990;BC068484;BC108671;BM673679;BQ896760;BU597855;CH471103;DA768238;DB324904;NM_001006622;NM_001006623;NM_018383 AAH05401;AAH13990;AAH68484;AAX82033;BAA92113;BAB32435;BAD97039;CAH10688;EAW95342;EAW95343;NP_001006623;NP_001006624;NP_060853;Q9C0J8 Hs.554831 1643864;1649734;1650278;1654858;1654860;1701504;2124533;2180704;5127154 A006B44;G20687;RH104385;RH15869;RH68215;SGC31777;SHGC-17215;SHGC-30980;SHGC-37059 FLJ11294;NET14;WDC146 OTTHUMP00000203869;OTTHUMP00000203870;OTTHUMP00000203871;OTTHUMP00000205989;WD repeat-containing protein 33;WD repeat-containing protein WDC146;pre-mRNA 3' end processing protein WDR33 APPROVED protein-coding ENSG00000136709 25651 11680 REVIEWED 1314666 WDR37 WD repeat domain 37 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] 10 10 10 p15.3 1052188 1127352 + 1092776 1168237 + 1102776 1178237 + 6480464 16381901;16189514;15489336;15164054;14702039;12477932;11230166;11076863;10231032;20677014;19724895;19851296;20198315;20379614;20383146;21139048;23400010 22884 C9JGR9;E7EQ49;Q9Y2I8 AB023199;ABBA01035259;ABBA01035260;AC022536;AK024605;AK125050;AK128194;AK292591;AK307259;AL136827;AL607085;AMYH01001976;BC018044;CH471072;NM_014023 AAH18044;BAA76826;BAF85280;CAB66761;CAL37555;EAW86513;EAW86514;EAW86515;EAW86516;EAW86517;NP_054742;Q9Y2I8 Hs.188495 1705180;1725557;1736122;1771540;2111099;2132508;2144109;2154587;2172041;5015404;5020740;5022200;5022651;5024413;5037552;5092894 A009B42;D10S1388E;D10S2279;D10S488E;D11S2921;D8S2279;G32396;L17705;L17809;L17877;L18426;RH119177;RH44795;SHGC-80039;STS-M78768;STS-T96998 FLJ40354;KIAA0982;RP11-529L18.2 OTTHUMP00000018956;OTTHUMP00000018957;WD repeat-containing protein 37 APPROVED protein-coding ENSG00000047056 31406 15668 REVIEWED 1348914 WDR45BP1 WD repeat domain 45B pseudogene 1 17 17 q11.2 27461225 27463927 - 30437209 30439714 - 446205;646086 ABBA01000702;AC090616;AC116407;AMYH01008330;NG_005857 1710576 SHGC-82391 WDR45LP1 APPROVED pseudo 26605 INFERRED 1314938 WDR41 WD repeat domain 41 5 5 5 q13.3 72622605 72682854 - 76763825 76824088 - 76728069 76788332 - 737633;6480464 12477932 15489334;14702039;20379614;21502949;16341674;19913121;20628086;21987572;21139048;21906983 55255 B4DHS8;B4DK73;B4DT55;B4E2L4;D6R9E7;D6R9M1;D6RA22;D6RB94;D6RBY6;D6RE66;D6RGW4;D6RH33;D6RIX6;D6RJA5;H0Y9Z3;H0YAA3;H0YAI6;Q9HAD4 ABBA01061981;AC010234;AF115511;AK001766;AK021855;AK023977;AK293316;AK295249;AK296423;AK300058;AK304329;AL834138;AMYH01015427;AMYH01015428;BC001807;BC040241;BM818066;CH471084;NM_018268 AAH40241;AAO06948;ADZ16017;BAA91895;BAB13915;BAB14749;BAG56835;BAG58240;BAG59085;BAG61867;BAG65176;CAD38853;EAW95805;EAW95806;EAW95807;NP_060738;Q9HAD4 Hs.482573 1644826;1664184;1684170;1760309;2127174;2167702;2172344;2176797;2180515;2186581 D5S2319;RH44320;RH44392;RH80473;SHGC-133093;SHGC-36223;SHGC-36700;SHGC-57669;SHGC-64313;WI-20907 FLJ10904;MSTP048 OTTHUMP00000128362;OTTHUMP00000222207;OTTHUMP00000222209;WD repeat-containing protein 41 protein-coding 25601 07714 VALIDATED 1350558 WDR45B WD repeat domain 45B This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77166614 77200663 - 78165727 78199700 - 80572438 80606411 - 737633;6480464 12477932 15602573;15489334;15146197;15020712;11181995;21832049;22939629;21139048;21890473;21906983;19322201 56270 I3L1D0;I3L3A5;I3L4L8;I3L4S6;Q5MNZ6 AA861045;ABBA01019690;ABBA01019691;ABBA01019692;AC124283;AF091083;AK297477;AM182326;AMYH01008737;AMYH01008738;AY691427;BC000974;BC007838;CH471099;CN262716;CR456770;NM_019613 AAC72952;AAV80763;ABZ92353;BAG59898;CAG33051;CAJ57996;EAW89808;EAW89809;EAW89810;EAW89811;EAW89812;EAW89813;EAW89814;NP_062559;Q5MNZ6 Hs.132161 1710576;1849121;1852502;2149976 Bda09c07;RH65862;RH79180;SHGC-82391 WDR45L;WIPI-3;WIPI3 OTTHUMP00000196431;WD repeat domain phosphoinositide-interacting protein 3;WD repeat protein 45-like;WD repeat-containing protein 45-like;WD repeat-containing protein 45B;WDR45-like;WDR45-like protein;WIPI49-like protein APPROVED protein-coding ENSG00000141580 25072 15669 609226 REVIEWED 1320425 WDR4 WD repeat domain 4 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012] 21 21 21 q22.3 29412800 29449250 - 43136273 43172747 - 44263190 44299699 - 1580863;6480464 16780588;17081983;16189514;15861136;15489334;14702039;12477932;12403464;10950928;18029348;22939629;16344560;21044950;21139048;22863883 10785 P57081 AB039887;ABBA01004526;ABBA01004527;AJ243912;AJ243913;AK056343;AK292923;AK298015;AK315008;AMYH01012271;AP001628;AP001629;BC001074;BC006341;BC018866;BG722541;BQ447230;BU541429;BU558089;CD368164;CH471079;DA029985;DC303088;NM_001260474;NM_001260475;NM_001260476;NM_001260477;NM_018669;NM_033661;NR_048535 AAH01074;AAH06341;ABM83893;ABM87214;BAB13726;BAF85612;BAG37500;BAG51684;BAG60319;CAB93144;CAB93145;EAX09527;EAX09528;EAX09529;NP_001247403;NP_001247404;NP_001247405;NP_001247406;NP_061139;NP_387510;P57081 Hs.248815;Hs.711744 1684120;1748999;1763971;1773271;1784462;1790647;1852506;2131243;2169098;2176269;2187196;5092890;5113451 A009B40;G32394;RH46358;RH98886;SHGC-105330;SHGC-147624;SHGC-156262;SHGC-52043;SHGC-56970;SHGC-58110;SHGC-58188;STS_CEB278;WI-13399 TRM82;TRMT82 OTTHUMP00000109401;OTTHUMP00000109402;TRM82 tRNA methyltransferase 82 homolog;WD repeat-containing protein 4;tRNA (guanine-N(7)-)-methyltransferase subunit WDR4 APPROVED protein-coding ENSG00000160193 12756 09330 605924 REVIEWED 1348509 WDR45 WD repeat domain 45 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008] X X X p11.23 52706432 52732399 + 48819036 48845003 - 48932092 48958059 - 737633;6480464 12477932 15602573;15489334;15020712;14702039;14671302;8125298;20562859;23687123;21832049;23176820;23435086;18781797;18984161;21139048;21906983;21963094;23447832 11152 A6NM71;C9J0A8;C9J471;C9J5L0;C9J7Q8;C9JBX7;C9JE01;C9JUS5;C9JVT3;C9JYH8;G8JLI5;H0Y329;H7C4N7;H7C5B4;Q9Y484 ABBA01046110;ABBA01046111;ABBA01046112;ABBA01046113;ABBA01046114;ABBA01046115;ABBA01046116;ABBA01046117;ABBA01046118;AC231657;AF196779;AJ005897;AK023344;AK225122;AK301084;AK315717;AMYH01022292;AY408066;AY691428;BC000464;BC003037;BC009027;BC035979;BC069206;BQ068083;CH471224;CR456725;NG_033004;NM_001029896;NM_007075 AAH00464;AAH03037;AAH09027;AAH69206;AAV80764;ABM83171;ABM86372;BAG62688;CAA06754;CAG33006;EAW50695;EAW50696;EAW50697;EAW50698;EAW50699;EAW50700;EAW50701;EAW50702;EAW50703;EAW50704;NP_001025067;NP_009006;Q9Y484 Hs.632807 2116741;2190867;5022200 DXS8228;L18426;MARC_10039-10040:997207294:1 JM5;NBIA4;NBIA5;WDRX1;WIPI-4;WIPI4 OTTHUMP00000032409;OTTHUMP00000032410;OTTHUMP00000032411;OTTHUMP00000032412;OTTHUMP00000032414;OTTHUMP00000216324;OTTHUMP00000216326;OTTHUMP00000216333;OTTHUMP00000216336;WD repeat domain phosphoinositide-interacting protein 4;WD repeat domain, X-linked 1;WD repeat-containing protein 45;WD45 repeat protein interacting with phosphoinositides 4;neurodegeneration with brain iron accumulation 4;neurodegeneration with brain iron accumulation 5 APPROVED protein-coding ENSG00000196998 28912 06597 300526;300894 REVIEWED 1343602 WDR47 WD repeat domain 47 1 1 1 p13.3 107782247 107854996 - 109314359 109386258 - 109512836 109584850 - 737633;6480464 12477932 16344560;16341674;15489334;10048485;8125298;16169070;22523538 22911 E9PKZ6;E9PN15;E9PNF6;E9PR96;O94967 AB020700;ABBA01068357;ABBA01068358;ABBA01068359;ABBA01068360;ABBA01068361;ABBA01068362;ABBA01068363;AK074616;AK225781;AK289789;AK294998;AL449266;AMYH01000928;BC034964;BC039254;BM793705;BX679664;CH471122;DA221069;NM_001142550;NM_001142551;NM_014969 AAH34964;AAH39254;ADZ15520;BAA74916;BAF82478;BAG58062;EAW56350;EAW56351;NP_001136022;NP_001136023;NP_055784;O94967 Hs.570055 1644519;1647127;1723233;1849115;1849117 A001X08;D1S3421;G19739;R58914;RH122300 FLJ90135;KIAA0893 OTTHUMP00000013443;OTTHUMP00000013444;OTTHUMP00000013445;OTTHUMP00000233693;WD repeat-containing protein 47;nemitin;neuronal enriched MAP interacting protein protein-coding ENSG00000085433 29141 15670 VALIDATED 1348946 WDR44 WD repeat domain 44 This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] X X X q24 117934854 118038746 + 117364070 117467952 + 117480036 117583924 + 737633;6480464 12477932 19240061;17081983;16964243;16381901;15772651;15489336;15489334;15302935;14702039;12665801;11230166;11076863;10747849;10464283;10077598;20936779;22939629;21139048;21890473;21906983;19322201;22863883 54521 H7BY83;Q7Z3P6 ABBA01036795;ABBA01036796;ABBA01036797;ABBA01036798;ABBA01036799;ABBA01036800;ABBA01036801;ABBA01036802;ABBA01036803;ABBA01036804;ABBA01036805;ABBA01036806;ABBA01036807;ABBA01036808;ABBA01036809;ABBA01036810;ABBA01036811;ABBA01036812;ABBA01036813;AK001978;AK023292;AK092077;AK127556;AK299711;AK304432;AL391474;AL391803;AL391830;AL833605;AL834210;AMYH01022874;AMYH01022875;BC013924;BC028697;BX470418;BX537578;BX538087;BX648150;CH471161;FB343007;FB711130;NG_021368;NM_001184965;NM_001184966;NM_019045 AAH28697;ACE86699;ACE87383;BAA92015;BAC03799;BAC87033;BAG61611;BAH14183;CAD38894;CAD97788;CAD98010;CAL38210;CAL38662;CAR81502;CAS91518;EAW89896;EAW89897;NP_001171894;NP_001171895;NP_061918;Q5JSH3 Hs.98510 1660847;1774091;2110039;5015404;5015619;5016700;5017170;5020946;5021872;5022578;5024413;5118718;7186695 D11S3114;D11S3590;D1S1423;L17705;L17877;L17971;L29953;RH68593;RH79802;STS-W80619;WDR44_9794;sY3084 DKFZp686L20145;FLJ13230;MGC26781;RAB11BP;RPH11 OTTHUMP00000023886;OTTHUMP00000023887;OTTHUMP00000023888;WD repeat-containing protein 44;rabphilin-11 APPROVED protein-coding ENSG00000131725 30512 11682 REVIEWED 6481375 WDR52-AS1 WDR52 antisense RNA 1 3 113122845 113152839 + 100874029 ABBA01061653;AC023894;AC026348;AC112128;AI221177;AMYH01013394;BX108680;NR_046728 Hs.599665 1690786 RH92266 APPROVED miscrna ENSG00000243849 41113 VALIDATED 1343890 WDR52 WD repeat domain 52 3 3 3 q13.2 111414367 111568950 - 114564402 114643030 - 113005777 113160361 - 737633;6480464 12477932 16344560;14702039;8889548 55779 C9K0A4;F8W806;F8WEX0;H0Y853;H0Y883;H0Y896;H7C512;H7C591;Q96MT7;Q9NUU0;Q9UF55 ABBA01061653;ABBA01061654;AC023894;AC026329;AC026348;AC112128;AK002004;AK056472;AK094398;AL133606;AMYH01013394;BC016799;BC101582;BC113553;BM978031;CH471052;CR936646;DB050626;NM_001164496;NM_018338 AAI01583;AAI13554;BAA92030;BAB71193;CAB63738;CAI56784;EAW79640;EAW79641;EAW79642;NP_001157968;NP_060808;Q96MT7 Hs.584936 1341793;1643628;1645760;1646576;1689769;1690786;1695250;1696506;1754689;2162163;7187360 D3S1610;D3S2353;G48268;IB1282;RH48074;RH92266;RH93384;SHGC-133044;SHGC-77205;SHGC-83142 DKFZp781C082;FLJ11142;MGC126631;MGC142113 OTTHUMP00000214532;WD repeat-containing protein 52 protein-coding ENSG00000206530 25631 07734 VALIDATED 1354020 WDR49 WD repeat domain 49 3 3 3 q26.1 165595023 165769739 - 168679166 168853983 - 167196472 167371289 - 737633 12477932 15489334;14702039;20379614;22589738 151790 C9IZ29;C9JY37;E7EQK3;E9PDB0;F8WAZ9;F8WBC8;H0Y8A5;H7C4Y4;Q8IV35 ABBA01058725;ABBA01058726;ABBA01058727;ABBA01058728;ABBA01058729;ABBA01058730;AC069530;AC079822;AC117425;AK090939;AK097556;AK294387;AMYH01013636;BC035512;CH471052;NM_178824 AAH35512;ADZ15441;BAC03552;BAC05100;BAG57644;EAW78584;NP_849146;Q8IV35 Hs.213762 1340780;1341149;1341755;1648487;2140337 D3S1253;D3S1264;D3S1763;D3S3035;D3S3122 FLJ33620 OTTHUMP00000212749;OTTHUMP00000212883;OTTHUMP00000212884;WD repeat-containing protein 49 protein-coding ENSG00000174776 26587 08160 PROVISIONAL 1344839 WDR43 WD repeat domain 43 2 2 2 p23.2 28962215 29015725 + 28971037 29024584 + 29117533 29171080 + 1580863;6480464;6907045 17699751;17081983;16964243;16565220;16344560;12477932;12429849;8889548;7584028;7584026;22939629;20360068;22178446;19471022;21139048;21693764;22586326;21890473;21906983;21963094 23160 C9IZK7;C9JEE7;C9JH61;H7C2H8;Q15061;Q8TB67 ABBA01045243;AC097720;AK000836;AMYH01010207;BC024234;BC033206;CA311794;CH471053;D26488;D87716;DA943836;NM_015131 AAH24234;AAI72316;BAA05499;BAA13441;EAX00522;NP_055946;Q15061 Hs.622982;Hs.709228 1658466;1757403;1768695;2122515;2126719;2146535;2177194 D2S2646;RH25248;RH47397;RH66494;RH68233;SHGC-144795;SHGC-56576 NET12;UTP5 OTTHUMP00000200981;UTP5, small subunit (SSU) processome component, homolog;WD repeat-containing protein 43 protein-coding ENSG00000163811 28945 VALIDATED 1344468 WDR53 WD repeat domain 53 This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008] 3 3 3 q29 194863098 194877452 - 197765456 197779810 - 196281059 196295413 - 737633;6480464 12477932 17041588;15489334;17207965 348793 A0MNP1;C9JBE7;C9JDR5;C9JJZ8;C9JQN1;Q7Z5U6 ABBA01033744;AC092933;AI803796;AK314105;AMYH01013795;BC054030;CH471191;EF011620;NM_182627 AAH54030;ABK41110;ADQ32581;BAG36798;EAW53645;EAW53646;EAW53647;NP_872433;Q7Z5U6 Hs.385865 1680262;1771538 RH99296;SHGC-56745 MGC12928;MGC64882 OTTHUMP00000208259;OTTHUMP00000208263;WD domain, G-beta repeat-containing protein;WD repeat-containing protein 53 APPROVED protein-coding ENSG00000185798 28786 14700 615110 PROVISIONAL 1353590 WDR46 WD repeat domain 46 6 6 6 p21.3 34801238 34811662 - 33354863 33364969 - 33246880 33257304 - 1300397;6480464 9545376 22754713;16565220;16344560;15635413;15498874;15489334;15342556;14574404;12477932;11790298;9521053;19851445;21139048;22586326;22797925 9277 A2ABB6;A8K806;B4DP15;H0Y6G3;O15213;Q5HYZ1 ABBA01038139;ABBA01038140;AF447870;AI867295;AK292171;AK292616;AK297925;AK298151;AK308534;AK311388;AK315616;AL031228;AL662820;AL662827;AL844527;AMYH01016243;BC000388;BP344599;BX000343;BX439421;CH471081;CR759786;CR759817;DB272479;NM_001164267;NM_005452;Z97184 AAH00388;AAQ04645;BAF84860;BAF85305;BAG37984;BAG60242;BAG60427;CAA20229;CAB09994;EAX03701;EAX03702;EAX03703;EAX03704;NP_001157739;NP_005443;O15213 Hs.520063;Hs.671763 1694606;1759815;1767406;2123082;2184242 D6S1234E;G43302;HSC0YF092;RH12439;SHGC-170354 BING4;C6orf11;FP221;UTP7 OTTHUMP00000029279;OTTHUMP00000178637;WD repeat-containing protein 46;WD repeat-containing protein BING4;chromosome 6 open reading frame 11 protein-coding ENSG00000227057 13923 12839 611440 VALIDATED 1347717 WDR54 WD repeat domain 54 2 2 2 p13.1 74480074 74484071 + 74502393 74506390 + 74648885 74652882 + 737633;6480464 12477932 15592455;15489334;14702039;8125298;17207965;21139048 84058 B9A049;C9J016;Q9H977 ABBA01075600;AC005041;AK023015;AK222696;AK311621;AMYH01010454;BC032428;BC051753;BC051848;CH471053;NM_032118 AAH51848;ADQ33058;BAB14358;BAD96416;EAW99677;EAW99678;EAW99679;EAW99680;EAW99681;NP_115494;Q9H977 Hs.643480 1734922;2147387;2159850;5015961;5126371 A005N24;D15S1477;D2S1691E;RH16671;WI-14006 FLJ12953 OTTHUMP00000160409;OTTHUMP00000202528;WD repeat-containing protein 54 protein-coding ENSG00000005448 25770 08577 PROVISIONAL 1347511 WDR48 WD repeat domain 48 3 3 3 p21.33 39033745 39078385 + 39068511 39112886 + 39093507 39137882 + 1580863;6480464 19075014;18082604;18032488;15489334;12885920;12477932;12196293;12168954;10819331;19615732;20147737;22990118;20147293;22278251;18029348;22778262;21183687;21896657;22079093;21139048;21890473;21906983;21963094;22505724;23116119;22701671 57599 C9JC24;C9JQ19;F8W6P2;F8W7Q3;F8W7Y5;F8W9K4;Q9P279 AB040882;ABBA01024812;ABBA01024813;ABBA01024814;AC123903;AC138124;AF468833;AK025513;AK074278;AK297349;AK298810;AK302307;AL162064;AL832926;AMYH01013097;BC012861;BC026353;BC037168;BX649170;CH471055;NM_020839 AAH26353;AAH37168;AAL78650;BAA95973;BAG59798;BAG60944;BAG63646;CAB82402;CAH56182;CAH56300;EAW64548;EAW64549;EAW64550;EAW64551;NP_065890;Q8TAF3 Hs.109778 1779602;2112696;2115792;2126634;2127321;2141008;2141959;2141961;2144641;2153718;2155422;2163225 A001Z36;D3S2895E;D3S4408;G09860;G19825;RH48643;SHGC-153576;SHGC-30045;SHGC-30755;SHGC-76837;SHGC-76850;SHGC-76851 DKFZp686G1794;KIAA1449;P80;UAF1 OTTHUMP00000208993;USP1 associated factor 1;USP1-associated factor 1;WD repeat endosomal protein;WD repeat-containing protein 48 protein-coding ENSG00000114742 30914 11146 612167 PROVISIONAL 1349800 WDR5 WD repeat domain 5 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 9 9 q34 135991031 136014915 + 137001210 137025094 + 6480464 17998332;18838386;18247557;21145461;12670868;19496786;19453261;19131338;18840606;18829459;18829457;16946699;16878130;16829960;16829959;16713569;16340128;16189514;15960975;15960974;15635413;15489334;14702039;14657013;12477932;11551928;15199122;17353931;16253997;17041588;17355966;17761849;18082152;18378692;18680430;19433449;19556245;20018852;20080758;20085832;20093773;20208542;20306291;17021013;17207965;19047629;20939513;18482256;19854137;20098747;21220120;16600877;18066051;18258596;19454010;21070969;21884981;22989411;17500065;17846119;17925232;20479123;21477851;20581860;20670891;21285357;19660582;20508642;20516061;20811636;20946988;21832049;22939629;22990118;21124902;21135039;16196087;20937768;21816345;21044950;21653943;22266653;22325352;22523547;22665483;16603732;20360068;21081666;22079093;16236267;19471022;20305087;21139048;21502505;21531708;21890473;21906983;21907836;22829784;14992727;18838538 11091 P61964;Q9H7J6 AA490313;ABBA01021992;ABBA01021993;ABBA01021994;AJ011376;AK000552;AK024484;AK025810;AMYH01021821;BC001635;BC015594;BC029769;BG773451;BX649632;CH471090;NM_017588;NM_052821 AAH01635;ADQ32719;BAA91248;BAB15774;CAB66159;EAW88117;EAW88118;EAW88119;EAW88120;NP_060058;NP_438172;P61964 Hs.397638 1686342;1738315;1738323;2108997 D9S1345;D9S1349;RH98879;WDR5_9217 BIG-3;SWD3 BMP2-induced 3-kb gene protein;OTTHUMP00000162494;SWD3, Set1c WD40 repeat protein, homolog;WD repeat-containing protein 5;WD-repeat protein 5 APPROVED protein-coding ENSG00000196363 12757 10614 609012 REVIEWED 1603214 WDR55 WD repeat domain 55 5 5 5 q31.3 136121131 136127300 + 140024568 140030737 + 140044384 140050553 + 6480464 19023099;17975119;16344560;15489334;14702039;12477932;21890473;19322201 54853 D6RGJ8;G3V1J0;Q9H6Y2 AA974187;ABBA01026423;AC116353;AK000202;AK025355;AK056861;AK122862;AK293417;AMYH01015661;BC002482;BC041687;BC068485;BQ069026;CH471062;DB210296;NM_017706 AAH68485;BAA91006;BAB15118;BAG56924;EAW62024;EAW62025;EAW62026;NP_060176;Q9H6Y2 Hs.286261 5015619;5015879;5016478;5024413;5037552 D11S3114;D8S2279;GDB:314949;GDB:434012;L17877 FLJ20195;FLJ21702 OTTHUMP00000159891;WD repeat-containing protein 55 protein-coding 25971 08614 VALIDATED 1318414 WDR5B WD repeat domain 5B This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008] 3 3 3 q21.1 120540328 120544510 - 123613390 123617572 - 122130700 122134882 - 1580863;6480464 15489334;14702039;12477932;10369878;8889548;7566098;20705733;17041588;22645275 54554 Q86VZ2 AA310178;AA587370;ABBA01016470;AC083798;AK002149;AK315186;AMYH01013430;BC025762;BC043494;BU678251;CH471052;CR457279;NM_019069 AAH43494;BAA92110;BAG37626;CAG33560;EAW79485;NP_061942;Q86VZ2 Hs.567513;Hs.594258 1674681;1685237;2122457;2166469;5092686 A005Q08;G32264;RH91836;SHGC-77265;WIAF-2146 FLJ11287;MGC49879 OTTHUMP00000215571;WD repeat-containing protein 5B APPROVED protein-coding ENSG00000196981 17826 18302 REVIEWED 1605950 WDR59 WD repeat domain 59 16 16 16 q23.1 59200469 59311988 - 73464972 73576518 - 74907471 75019017 - 6480464 15498874;15489334;14702039;12477932;11572484;17041588;19615732;19844255;20379614;21139048;21906983;21988832;23251661;22505724 79726 H3BMH3;H3BNY4;H3BR95;H3BUE9;H3BV71;Q6PJI9 AB067510;ABBA01058113;ABBA01058114;ABBA01058115;ABBA01058116;ABBA01058117;ABBA01058118;ABBA01058119;ABBA01058120;AC009132;AC092383;AF370390;AK022332;AK091316;AK302557;AL832078;AMYH01007814;AMYH01007815;BC004519;BC014887;CA777098;CH471114;NM_030581 AAH04519;AAH14887;AAQ15226;BAB14015;BAB67816;BAG52335;BAH13742;EAW95672;EAW95673;EAW95674;EAW95675;EAW95676;NP_085058;Q6PJI9 Hs.280951 1650140;1680501;1698210;1715861;1726935;1846623;2152665;5015861 D10S16;G62712;RH102641;RH119625;RH70757;RH91801;SHGC-1232;SHGC-33475 FLJ12270;FP977;MGC11230 OTTHUMP00000244516;WD repeat-containing protein 59 protein-coding ENSG00000103091 25706 13351 VALIDATED 1605299 WDR64 WD repeat domain 64 1 1 1 q43 215070686 215220995 + 239913505 240031580 + 241815580 241965435 + 6480464 14702039;20923822;19626040;20379614 128025 B1ANS9;D6RCR1;H0Y6L4 ABBA01033253;ABBA01033254;ABBA01033255;ABBA01033256;ABBA01033257;ABBA01033258;ABBA01033259;AK057540;AK122927;AL365366;AMYH01001875;AY327404;BE673668;BX248405;BX322532;CH471098;NM_144625 AAI48603;AAI56933;AAP92796;B1ANS9;BAB71525;EAW70101;EAW70102;NP_653226 Hs.97527 1335550;1660475;1682241;1767206;1850987;2115134;2187562 AL009541;AL009818;D1S321;RH93246;SHGC-642;SHGC-76596;SHGC-76606 FLJ32978 OTTHUMP00000037771;WD repeat-containing protein 64 protein-coding ENSG00000162843 26570 13412 VALIDATED 1316962 WDR6 WD repeat domain 6 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. [provided by RefSeq, Aug 2008] 3 3 p21.31 49019830 49028390 + 49044637 49053386 + 6480464 17216128;16189514;15489334;14702039;12477932;11814058;10903905;8125298;18247557;21145461;17720279;16751776;18850735;19910486;22990118;23022380;22939629;18029348;22118674;21139048;21890473;21906983;22586326;22505724 11180 B3KRR8;C9JFP6;C9K020;E5RFX3;E9PBK6;E9PDU5;F8WE36;Q9H9M3;Q9NNW5 ABBA01024618;ABBA01024619;ABBA01024620;AC137630;AF099100;AI636120;AK001080;AK022719;AK092079;AK225653;AK295145;AK296387;AK297090;AK304117;AK309913;AL133589;AL833910;AMYH01013154;AMYH01013155;BC002826;BC078176;BC101707;BC113467;BC143486;BC143488;DC389885;DC400613;NG_029915;NM_018031 AAF80244;AAH02826;AAH78176;AAI01708;AAI13468;BAA91497;BAB14201;BAG52480;BAG58164;BAG59057;BAG59605;BAG65018;CAB63730;CAD38766;NP_060501;Q9NNW5 Hs.654815 1679730;2107495;2110041;2176084 PH-4__6983;RH80256;SHGC-76942;WDR6_9235 FLJ10218;FLJ52552;FLJ56107;MGC126756;MGC142027 OTTHUMP00000164827;OTTHUMP00000208907;OTTHUMP00000208909;WD repeat-containing protein 6 APPROVED protein-coding ENSG00000178252 12758 06912 606031 REVIEWED 1605671 WDR60 WD repeat domain 60 7 7 7 q36.3 153081253 153173045 + 158342030 158431644 + 158649269 158738883 + 6480464 18391950;16344560;15489334;14702039;12690205;12477932;8889548;20360068;21900206 55112 H7BYQ2;H7C022;H7C1E8;Q8WVS4 AACC02000072;AACC02000073;ABBA01032302;ABBA01032303;ABBA01032304;ABBA01032305;AC004863;AC124833;AK001162;AK027228;AL137660;AMYH01018211;AMYH01018212;AMYH01018213;BC014491;BM718580;BU628311;CH236954;CH471149;CR627036;DB072968;NM_018051 AAH14491;BAA91528;CAH10360;EAL23932;EAX04592;NP_060521;Q8WVS4 Hs.389945 1689149;1768262;2133432 GDB:1317300;RH65189;RH65943 FLJ10300;FLJ23575 OTTHUMP00000200011;WD repeat-containing protein 60 protein-coding ENSG00000126870 21862 08545 VALIDATED 1601957 WDR61 WD repeat domain 61 WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008] 15 15 15 q25.1 55512089 55528455 - 76362632 76378995 - 78575577 78591940 - 6480464 16024656;15761153;15489334;14702039;12477932;16169070;21145461;17148452;17207965;17041588;21070969;20541477;22863883;22939629;22990118;18029348;20178742;22451921;21726809;15161933;20360068;20305087;21139048;21906983;17203973;22190034 80349 H0YL19;H0YLA1;H0YM76;H0YMF9;H0YN81;H3BQA8;Q9GZS3 ABBA01060582;AC090607;AF100786;AF127799;AF309553;AK024754;AK300838;AK304617;AK311320;AMYH01006832;BC010080;CH471136;CR457333;NM_025234 AAG31639;AAH10080;AAP97225;AAP97249;ADQ31674;BAB14986;BAG62489;BAG65399;CAG33614;EAW99173;EAW99174;EAW99175;NP_079510;Q9GZS3 Hs.513055 1680180;2113158;2183475 D15S1485;RH26799;RH44802 REC14;SKI8 OTTHUMP00000184910;SKI8 homolog;WD repeat-containing protein 61;meiotic recombination REC14 protein homolog;recombination protein REC14 APPROVED protein-coding ENSG00000140395 30300 15236 609540 PROVISIONAL 1605003 WDR63 WD repeat domain 63 1 1 1 p22.3 83771898 83842741 + 85300595 85371407 + 85527993 85598821 + 6480464 16710414;16344560;15489334;14702039;12477932;20379614;23509962;21953912 126820 E9PLK2;E9PLW4;H0YEC9;Q8IWG1 ABBA01045643;ABBA01045644;ABBA01045645;AK054629;AK292603;AL358789;AMYH01000753;AMYH01000754;AY049724;BC040265;BX648851;CH471097;DB075669;DB085334;NM_145172 AAH40265;AAL06239;BAB70778;BAF85292;EAW73212;EAW73213;EAW73214;NP_660155;Q8IWG1 Hs.97933 1643685;1677796 AL009692;RH98390 DIC3;FLJ30067;NYD-SP29;RP11-507C22.2 OTTHUMP00000011612;OTTHUMP00000011613;OTTHUMP00000036081;WD repeat-containing protein 63;testis development protein NYD-SP29 (NYD-SP29) protein-coding ENSG00000162643 30711 11409 VALIDATED 1315489 WDR62 WD repeat domain 62 This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] 19 19 q13.12 41237623 41287852 + 36545783 36596012 + 6480464;7240710 21496009;17081983;16565220;16189514;20729831;15489334;15302935;15057824;14702039;12477932;8889548;16169070;20562859;10573015;19910486;20890278;20890279;20980985;21749326;20360068;21961505;23341463;21834044;21139048;20301772;22308068;23065275 284403 H7C3R4;O43379 ABBA01018777;ABBA01018778;ABBA01018779;AC004144;AD000813;AK090617;AL041673;AL117438;AL133651;AMYH01009738;AW029580;BC017261;BC058939;BC151839;BQ880028;BQ960310;BU508347;BX647726;CF142643;NG_028101;NM_001083961;NM_173636 AAC27979;AAH17261;ADZ15467;BAC03488;CAB55924;CAH56191;CAH56390;NP_001077430;NP_775907;O43379 Hs.116244 1337579;1340469;2168811;5015861;5016352;5022200;5022578;5037552;7185938 D10S16;D19S416;D19S420;D1S1423;D8S2279;L18426;L30021;SHGC-23212 C19orf14;DKFZp434J046;DKFZp686G1024;FLJ33298;MCPH2;MGC166976 WD repeat-containing protein 62;microcephaly, primary autosomal recessive 2 APPROVED protein-coding ENSG00000075702 24502 10721 604317;613583 REVIEWED 1606715 WDR66 WD repeat domain 66 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011] 12 12 12 q24.31 121994080 122079717 + 120840863 120926216 + 122356463 122441833 + 6480464 19110211;14702039;12477932;8889548;19773279;19820697;21572414;10322433;11814058;18925368;8090199;22552337;22139419 144406 Q8TBY9 AA853421;AA858079;ABBA01020193;ABBA01020194;ABBA01020195;ABBA01020196;ABBA01020197;AC069503;AK097102;AL833930;AMYH01004819;AMYH01004820;AMYH01004821;AMYH01004822;AMYH01004823;BC028421;BC036233;BE870554;BG717296;CA503090;CA944646;CH471054;CN480050;DB462471;NG_021364;NM_001178003;NM_144668 AAH28421;AAH36233;CAD38786;EAW98298;EAW98299;NP_001171474;NP_653269;Q8TBY9 Hs.709837 1758525;1798030;5093400;5124142 G32696;PSMD9_1060.2;RH92394;SHGC-148598 FLJ39783;MGC33630 OTTHUMP00000239802;OTTHUMP00000239803;WD repeat-containing protein 66 APPROVED protein-coding ENSG00000158023 28506 14570 REVIEWED 736419 WDR7 WD repeat domain 7 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 18 18 18 q21.31 51035752 51414043 + 52469614 52848034 + 54318616 54697036 + 6480464 19240061;19010793;15489334;14702039;12786944;12477932;10828621;9628581;20379614;22064162 23335 K7ELZ4;K7EMB8;K7EMF3;K7EPQ4;K7EPY9;K7EQ29;K7ERP9;K7ES51;Q9Y4E6 AB011113;ABBA01056125;ABBA01056126;ABBA01056127;AC007052;AC008006;AC012301;AF188125;AK057141;AMYH01009021;AY099325;BC050352;BC131558;BC150282;CH471096;NM_015285;NM_052834 AAH50352;AAI31559;AAI50283;AAL03983;AAM33134;BAA25467;EAW63037;EAW63038;EAW63039;EAW63040;NP_056100;NP_443066;Q9Y4E6 Hs.465213 1683487;1693816;1718499;1728017;1731787;1760175;1767759;1768042;2119315;2130827;2147434;2147436;2158772;7184798 A006I33;D18S1324;D18S18;G18043;G20853;G63279;RH122452;RH46177;RH78349;SHGC-132450;SHGC-32006;SHGC-56429;STS-D59348 KIAA0541;TRAG OTTHUMP00000163595;OTTHUMP00000163596;TGF-beta resistance associated;TGF-beta resistance-associated protein TRAG;WD repeat-containing protein 7;rabconnectin-3 beta APPROVED protein-coding ENSG00000091157 13490 10306 613473 REVIEWED 1603569 WDR65 WD repeat domain 65 This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] 1 1 1 p34.2 41920109 41958656 + 43410613 43449136 + 43638001 43720029 + 6480464 18029348;16710414;15489334;14743216;14702039;12477932;21460395;15867431;16344560;8889548;10322433;11814058;18925368;21574244;8090199;11781685 149465 E9PP89;E9PRV3;H7C4D4;Q96MR6 ABBA01050962;AC093420;AK056562;AL139138;AMYH01000557;BC117280;BC117306;BC143804;BU609144;CD691772;CH471059;DA388966;DB057663;DB066304;DB216041;DV080053;DV080109;DV080256;DV080557;DV080558;NG_028079;NM_001167965;NM_001195831;NM_152498 AAI17281;AAI17307;ADR83238;BAB71217;EAX07118;NP_001161437;NP_001182760;NP_689711;Q96MR6 Hs.527565;Hs.735676;Hs.738994 1339392;1668392;1699408;1849613 D1S1758E;D1S2797;RH103295;SHGC-57341 FLJ32000;RP11-282K6.2;VWS2 OTTHUMP00000008355;WD repeat-containing protein 65 APPROVED protein-coding ENSG00000243710 26485 08717 614259 REVIEWED 1605675 WDR70 WD repeat domain 70 5 5 5 p13.2 37266337 37639153 + 37415169 37788531 + 37379412 37752774 + 6480464 14702039;12477932;19615732;22939629;21906983;23382074 55100 D6RIW8;Q9NW82 ABBA01024184;ABBA01024185;ABBA01024186;ABBA01024187;ABBA01024188;ABBA01024189;ABBA01024190;ABBA01024191;ABBA01024192;ABBA01024193;AC025469;AC093269;AC117532;AK001095;AK291179;AK310901;AL512685;AMYH01015031;AMYH01015032;AMYH01015033;AMYH01015034;AMYH01015035;AMYH01015036;AMYH01015037;AMYH01015038;BC009648;BC025315;BX537655;CH471119;NM_018034 AAH09648;AAH25315;BAA91502;BAF83868;CAC21644;EAW55960;EAW55961;NP_060504;Q9NW82 Hs.213690 1338135;1685469;1706028;1735448;1770950;1785562;1785654;1855648;2111069;2144012;2183688 1858;D5S1578E;D5S1998;D5S566E;G19189;RH48890;SHGC-154968;SHGC-172433;SHGC-78651;STS-N74440;WI-11355 FLJ10233 OTTHUMP00000221780;WD repeat-containing protein 70 protein-coding 25495 08542 PROVISIONAL 1602852 WDR73 WD repeat domain 73 15 15 15 q25.2 61611526 61623048 - 82987003 82998525 - 85185999 85197521 - 6480464 14702039;12477932;21900206;22939629;21139048;21890473 84942 H0YLH0;H0YMT3;H0YMX2;Q6P4I2 ABBA01052944;AC048382;AF161382;AK027200;AK027794;AK055578;AK055729;AK090406;AK225068;AK225199;AK295372;AMYH01006869;BC014115;BC020252;BC050648;BC063392;CH471101;NM_032856 AAF28942;AAH14115;AAH50648;AAH63392;BAB55373;BAC03387;BAG51562;BAG58332;EAX01945;EAX01946;EAX01947;EAX01948;EAX01949;NP_116245;Q6P4I2 Hs.165736 2158765;5015619;5016478;5037552 D11S3114;D2S2557;D8S2279;GDB:434012 FLJ14888;HSPC264 FLJ00296 protein;WD repeat-containing protein 73 protein-coding ENSG00000177082 25928 08608 VALIDATED 1602418 WDR72 WD repeat domain 72 This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 15 15 15 q21.3 30700883 30946788 - 51593230 51839151 - 53805938 54025362 - 6480464;7240710 22797727;15489334;14702039;12477932;8889548;20834067;19853237;19875614;20379614;20383146;20938048;20139978;21294870;21196691;22126837;16344560;21597265;22243262;23293580 256764 H0YKE0;H0YLX4;H0YN02;Q3MJ13 ABBA01039044;ABBA01039045;AC024061;AC066611;AC066614;AK096055;AK123805;AK125130;AK310211;AK311300;AMYH01006657;BC058026;BC101614;BC101616;BX537884;BX648571;BX648751;CH471082;CK299278;DA736178;DA748816;NG_017034;NM_001277176;NM_182758;NR_102334;NR_102335;NR_102336 AAI01615;AAI01617;ACE86676;ACE87361;BAC04689;CAD97880;EAW77462;NP_001264105;NP_877435;Q3MJ13 Hs.122125 1341377;1690642;1698242;1698716;1706654;1717847;1731319;1747919;1753569;1756983;1763537 D15S1003;D15S170;G66901;RH102657;RH102918;RH122755;RH92120;SHGC-107461;SHGC-141520;SHGC-147238;SHGC-82811 AI2A3;FLJ38736;MGC126663;MGC126665 OTTHUMP00000162771;WD repeat-containing protein 72 APPROVED protein-coding ENSG00000166415 26790 10987 613211;613214 REVIEWED 1603395 WDR74 WD repeat domain 74 11 11 11 q12.3 51134558 51137689 - 62356960 62364204 - 62600383 62607628 - 6480464 12429849;15489334;14742713;14702039;12477932;11790298;16169070;17207965;22939629;18029348;21900206;21987572;20972266;21890473;21906983;22505724;22797925 54663 E9PS41;F5GYL6;F5H0Q8;H0YFP2;Q6RFH5 ABBA01003246;AK001301;AK025383;AK292330;AK303186;AMYH01003691;AP001160;AY500828;BC006351;CH471076;CS300592;NM_018093 AAH06351;AAS48499;ADQ32363;BAA91610;BAB15122;BAF85019;BAG64280;CAK32256;EAW74111;EAW74112;NP_060563;Q6RFH5 Hs.654620 1649902;1697102;1700744;1792376;2116031;2137583;5106391 PMC150226P1;RH102034;RH103997;RH16519;SGC33051;SHGC-2475;WI-15662 FLJ10439;FLJ21730 NOP seven-associated protein 1;OTTHUMP00000236505;OTTHUMP00000236506;OTTHUMP00000236507;OTTHUMP00000236508;WD repeat-containing protein 74 protein-coding ENSG00000133316 25529 08548 VALIDATED 1626141 WDR82P1 WD repeat domain 82 pseudogene 1 3 3 3 q11.2 93041883 93044568 - 96136486 96139818 - 94654443 94657128 - 11181995;16253997 728505 ABBA01026961;ABBA01026962;AC140059;AMYH01013343;CH471052;NG_006256 EAW79892 1727943 G63391 SW2;SWD2;WDR82;WDR82B;hCG26824 pseudo 32447 INFERRED 1604581 WDR75 WD repeat domain 75 2 2 2 q32.2 183901218 183935325 + 190014404 190048509 + 190306159 190340264 + 6480464;6907045 17081983;16565220;15815621;19615732;15489334;14702039;12477932;12429849;17699751;18029348;21139048;21890473;21906983;22586326 84128 F8WC81;F8WE20;Q8IWA0 ABBA01062379;AC013439;AK022581;AK022607;AK023276;AK091546;AK290445;AL122097;AMYH01011343;BC006816;BC018689;BC040567;CH471058;CR749440;NM_032168 AAH06816;AAH18689;AAH40567;AAX93081;BAB14111;BAB14126;BAB14503;BAF83134;CAB59265;CAH18278;EAX10903;EAX10904;EAX10905;NP_115544;Q8IWA0 Hs.399984 1655315;1655317 A005T33;G20486 DKFZp781N1244;FLJ12519;NET16;UTP17 OTTHUMP00000163494;UTP17, small subunit (SSU) processome component, homolog;WD repeat-containing protein 75 protein-coding ENSG00000115368 25725 07775 PROVISIONAL 1626190 WDR82P2 WD repeat domain 82 pseudogene 2 1 1 1 p22.2 90244550 90248121 - 91770099 91774000 - 91997855 92001426 - 441891 ABBA01045565;AL355871;AMYH01000790;NG_006032 1676554 RH65382 WDR82C pseudo 33513 INFERRED 1605336 WDR76 WD repeat domain 76 15 15 15 q15.3 21008572 21050076 + 41906500 41946502 + 44119112 44160617 + 6480464 17041588;15489334;14702039;12860291;12499253;12477932;19913121;20628086;15146197;16344560;21906983;23022100;22505724 79968 C9JE56;Q9H967 AA743653;AA810149;ABBA01039220;ABBA01039221;ABBA01039222;AC018512;AC023356;AK023035;AK290933;AMYH01006607;BC025247;BC051855;BQ183396;BX374706;CH471082;CN259143;DA439086;EF011624;NM_001167941;NM_024908 AAH25247;AAH51855;ABK41114;BAB14369;BAF83622;EAW77248;NP_001161413;NP_079184;Q9H967 Hs.250154 1716131;1804518;1813134;1813760;1814734;1815362;1815444;1815926;1825094;1825314;1829862;1832002;1832608;1832734;1832784;1834426;1834802;1835286;1836314;1836842;1836950;1837544;1838444;1839278;1843618;1843858;1844740;1845472;1846114;1933964;1933966;1933968;1933970;1933972;1933974;1933976;1933978;1933980;1933982;1933984;1933986;1933988;1933990;1933992;1933994;1933996;1933998;1934000;1934002;1934004;1934006;1934008;1934010;1934012;1934014;1934016;1934018;1934020;1934022;1934024;1934026;1934028;1934030;1934032;1934034;1934036;1934038;1934040;1934042;1934044;1934046;1934048;1934050;1934052;1934054;1934056;1934058;1934060;1934062;1934064;1934066;1934068;1934070;1934072;1934074;1934076;1934078;1934080;1934082;1934084;1934086;1934088;1934090;1934092;1934094;1934096;1934098;1934100;1934102;1934104;1934106;1934108;1934110;1934112;1934114;1934116;1934118;1934120;1934122;1934124;1934126;1934128;1934130;1934132;1934134;1934136;1934138;1934140;1934142;1934144;1934146;1934148;1934150;1934152;1934154;1934156;1934158;1934160;1934162;1934164;1934166;1934168;1934170;1934172;1934174;1934176;1934178;1934180;1934182;1934184;1934186;1934188;1934190;1934192;1934194;1934196;1934198;1934200;1934202;1934204;1934206;1934208;1934210;1934212;1934214;1934216;1934218;1934220;1934222;1934224;1934226;1934228;1934230;1934232;1934234;1934236;1934238;1934240;1934242;1934244;1934246;1934248;1934250;1934252;1934254;1934256;1934258;1934260;1934262;1934264;1934266;1934268;1934270;1934272;1934274;1934276;1934278;1934280;1934282;1934284;1934286;1934288;2209126;2209128;2209130;2209132;2209134;2209136;2209138;2209140;2209142;2209144;2209146;2209148;2209150;2209152;2209154;2209156;2209158;2209160;2209162;2209164;2209166;2209168;5037552 D8S2279;ECD03188;ECD07586;ECD07903;ECD08398;ECD08717;ECD08758;ECD09003;ECD13648;ECD13763;ECD16064;ECD17139;ECD17444;ECD17508;ECD17533;ECD18361;ECD18549;ECD18798;ECD19319;ECD19585;ECD19639;ECD19939;ECD20396;ECD20819;ECD23019;ECD23140;ECD23585;ECD23954;ECD24277;REN37815;REN37816;REN37817;REN37818;REN37819;REN37820;REN37821;REN37822;REN37823;REN37824;REN37825;REN37826;REN37827;REN37828;REN37829;REN37830;REN37831;REN37832;REN37833;REN37834;REN37835;REN37836;REN37837;REN37838;REN37839;REN37840;REN37841;REN37842;REN37843;REN37844;REN37845;REN37846;REN37847;REN37848;REN37849;REN37850;REN37851;REN37852;REN37853;REN37854;REN37855;REN37856;REN37857;REN37858;REN37859;REN37860;REN37861;REN37862;REN37863;REN37864;REN37865;REN37866;REN37867;REN37868;REN37869;REN37870;REN37871;REN37872;REN37873;REN37874;REN37875;REN37876;REN37877;REN37878;REN37879;REN37880;REN37881;REN37882;REN37883;REN37884;REN37885;REN37886;REN37887;REN37888;REN37889;REN37890;REN37891;REN37892;REN37893;REN37894;REN37895;REN37896;REN37897;REN37898;REN37899;REN37900;REN37901;REN37902;REN37903;REN37904;REN37905;REN37906;REN37907;REN37908;REN37909;REN37910;REN37911;REN37912;REN37913;REN37914;REN37915;REN37916;REN37917;REN37918;REN37919;REN37920;REN37921;REN37922;REN37923;REN37924;REN37925;REN37926;REN37927;REN37928;REN37929;REN37930;REN37931;REN37932;REN37933;REN37934;REN37935;REN37936;REN37937;REN37938;REN37939;REN37940;REN37941;REN37942;REN37943;REN37944;REN37945;REN37946;REN37947;REN37948;REN37949;REN37950;REN37951;REN37952;REN37953;REN37954;REN37955;REN37956;REN37957;REN37958;REN37959;REN37960;REN37961;REN37962;REN37963;REN37964;REN37965;REN37966;REN37967;REN37968;REN37969;REN37970;REN37971;REN37972;REN37973;REN37974;REN37975;REN37976;REN37977;RH121030;stSG627978;stSG627979;stSG627980;stSG627981;stSG627983;stSG627984;stSG627985;stSG627986;stSG627987;stSG627989;stSG627990;stSG627991;stSG627992;stSG627994;stSG627995;stSG627996;stSG627997;stSG627998;stSG627999;stSG628000;stSG628001;stSG628002 CDW14;FLJ12973 OTTHUMP00000066509;OTTHUMP00000196079;WD repeat-containing protein 76 protein-coding ENSG00000092470 25773 07804 VALIDATED 1605635 WDR78 WD repeat domain 78 1 1 1 p31.3 65568539 65680519 - 67051156 67163158 - 67278568 67390570 - 6480464 16710414;15489334;14702039;12477932;16344560;8889548;21953912 79819 A0AVI9;E9PQT5;H0YCX1;H0YD49;H0YD58;H0YDI6;H0YEH4;H0YES1;Q5TAD8;Q5VTH9 ABBA01074525;ABBA01074526;ABBA01074527;AK026782;AK091603;AK127011;AK292830;AL133617;AL139216;AL354978;AL516734;AL592161;AMYH01000688;BC032406;BC126379;BC126381;BM968567;BX648840;CH471059;DA916550;NM_024763;NM_207014 AAH32406;AAI26380;AAI26382;ADR83283;BAB15551;BAF85519;CAB63744;EAX06513;EAX06514;EAX06515;NP_079039;NP_996897;Q5VTH9 Hs.49421 1851026;2126432;5017587;5024039;5037552 D16S325;D8S2279;MIER1;SHGC-56558;SHGC-74959 DIC4;FLJ23129;RP11-342H21.1 OTTHUMP00000010745;OTTHUMP00000010746;OTTHUMP00000232387;WD repeat-containing protein 78 protein-coding ENSG00000152763 26252 08017 VALIDATED 1604293 WDR77 WD repeat domain 77 WDR77 is a component of the 20S PRMT5 (MIM 604045)-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins (see MIM 601061). This modification targets Sm proteins to the survival of motor neurons (SMN) complex (see MIM 600354) for assembly into small nuclear ribonucleoprotein core particles (Friesen et al., 2002 [PubMed 11756452]).[supplied by OMIM, Mar 2008] 1 1 p13.2 111784035 111793353 - 111982512 111991830 - 6480464 21145461;15130578;18356297;17437848;17081983;17032745;16712789;16710414;15670829;15489334;15324660;15221005;14702039;12560496;12477932;11756452;9110174;8619474;8125298;16980624;17207965;12972618;16087681;16253997;17158748;17643375;19188445;17707232;18404153;21385873;19840198;21316606;20951943;23084401;23184937;22863883;16196087;17314511;18029348;19167051;21789256;17620599;18562274;21706016;21963094;22365833;23145110;23246001;18457437;20360068;21183687;22022581;21139048;22169276;16300736;21628590;23071334;22505724 79084 B4DP38;H0Y711;Q9BQA1 AB073603;AB074171;ABBA01068397;AF052183;AF478464;AK022860;AK223189;AK296163;AK298179;AL390195;AMYH01000946;AY225316;BC001679;BC006477;BC009411;BC011778;BC016946;CH471122;NM_024102 AAH01679;AAH06477;AAH09411;AAH11778;AAH16946;AAL79917;AAP79114;ADQ32672;BAD38641;BAD96909;BAE45736;BAG51128;BAG58902;BAG60450;EAW56493;EAW56494;NP_077007;Q9BQA1 Hs.204773 1674258;1687586;1692086;1777741;2134175 AL033683;D1S2199;NIB1144;RH11857;SHGC-75307 HKMT1069;MEP-50;MEP50;MGC2722;Nbla10071;RP11-552M11.3;p44;p44/Mep50 MEP-50;OTTHUMP00000013472;OTTHUMP00000013473;WD repeat-containing protein 77;androgen receptor cofactor p44;methylosome protein 50;p44/Mep50 APPROVED protein-coding ENSG00000116455 29652 14387 611734 PROVISIONAL 1602453 WDR87 WD repeat domain 87 19 19 19 q13.13 35176408 35198258 - 43067412 43089157 - 38375472 38397317 - 21139048 83889 E7ESW6;Q6ZQQ6 ABBA01040648;ABBA01040649;ABBA01040650;AC016582;AK128826;AK301941;AK302913;AMYH01009773;AY026504;NM_031951 AAK20167;BAC87627;BAG63361;BAG64080;NP_114157;Q6ZQQ6 Hs.664194 2219216 NYD-SP11__6094 FLJ52608;NYD-SP11 OTTHUMP00000045857;OTTHUMP00000195587;WD repeat-containing protein 87;testis development protein NYD-SP11 protein-coding ENSG00000171804 29934 PROVISIONAL 6769350 WDR86-AS1 WDR86 antisense RNA 1 7 q36.1 151106322 151110134 + 14702039;16344560 100131176 AACC02000108;ABBA01035154;AC005996;AK095986;AMYH01018145;BC043579;DA818594;NR_034012;NR_034013 Hs.659231 2163518 GDB:4585553 APPROVED miscrna ENSG00000243836 41186 VALIDATED 1604285 WDR82 WD repeat domain 82 TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010] 3 3 3 p21.2 52267750 52291971 - 52263478 52287699 - 52288438 52312659 - 6480464 18838538;17998332;17355966;17041588;16253997;14702039;12975309;12477932;18680430;19433449;20516061;22939629;20360068;22446626;21139048;21890473;21906983;21900206;21926972;22505724;22952844 80335 C9J355;C9JBU3;Q6UXN9 ABBA01024510;AC092045;AF132207;AF173977;AI478905;AK074290;AK098435;AK123860;AK130177;AK291380;AMYH01013182;AY358264;BC011760;BC018941;BX648628;CH471055;DB500464;NM_025222 AAG35553;AAH11760;AAH18941;AAQ13620;AAQ88631;BAB85039;BAF84069;EAW65202;EAW65203;NP_079498;Q6UXN9 Hs.194110 1670334;1674307;1676554;1718401;1721573;1740217;1746045;1767938;2112578;2179580;2185928;5015961;5022322;5037552;7186165 D11S2560;D15S1477;D3S1648;D3S3025;D3S4423;D8S2279;G59796;RH122975;RH125637;RH65382;SHGC-34682;SHGC-77002;STS-H08817;STS-N92524 MST107;MSTP107;PRO2730;PRO34047;SWD2;TMEM113;WDR82A OTTHUMP00000197255;WD repeat-containing protein 82;transmembrane protein 113 APPROVED protein-coding ENSG00000164091 28826 15183 611059 VALIDATED 1606736 WDR81 WD repeat domain 81 This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] 17 17 17 p13.3 1635525 1657607 + 1566580 1588629 + 1619817 1641893 + 6480464;7240710 21145461;22686558;15489334;14702039;12477932;20705733;19156129;19389623;21987572;21822214;21906983;21963094;22505724;23022100 124997 B7Z6V3;C9JCF9;C9JD20;E9PDG3;I3L1G2;I3L3U7;K7ELV8;Q24JR4;Q8TEL1 ABBA01054671;ABBA01054672;AC130343;AI168277;AI916244;AK074111;AK074356;AK091136;AK122972;AK123896;AK127946;AK298567;AK300986;AL834379;AMYH01008004;BC092513;BC114519;BC114568;CH471108;NG_032811;NM_001163673;NM_001163809;NM_001163811;NM_152348 AAH92513;AAI14520;AAI14569;BAB84937;BAC03593;BAG53978;BAG54603;BAH12815;BAH13389;CAD39042;EAW90582;EAW90583;EAW90584;NP_001157145;NP_001157281;NP_001157283;NP_689561;Q562E7 Hs.234572 1734540;2121272;2165805;2187403 D17S1468E;RH15862;SHGC-32238;WIAF-2225 CAMRQ2;FLJ23776;FLJ33817 OTTHUMP00000204690;OTTHUMP00000207123;OTTHUMP00000208973;OTTHUMP00000208974;WD repeat-containing protein 81 APPROVED protein-coding ENSG00000167716 26600 08748 610185;614218 REVIEWED 1604947 WDR86 WD repeat domain 86 7 7 7 q36.1 145635453 145664592 - 150709140 150738057 - 151078207 151107124 - 6480464 16344560;12477932 349136 B4DJF1;C9JAJ5;Q86TI4 AACC02000108;ABBA01035154;ABBA01035155;AC005486;AC005996;AK125347;AK296049;AK301628;AMYH01018144;AMYH01018145;BC047921;BC107125;BI757623;BX338490;BX390499;CH471173;DA267732;NM_198285 AAI07126;BAC86140;BAG58813;BAG63113;EAL24513;EAW53995;EAW53996;EAW53997;EAW53998;NP_938026;Q86TI4 Hs.647083 1754611;1775096;2122317;2141505;2163518 D7S2841;GDB:4585257;GDB:4585553;SHGC-132944;SHGC-57659 FLJ51355;MGC129839 OTTHUMP00000198463;OTTHUMP00000212012;WD repeat-containing protein 86 protein-coding ENSG00000187260 28020 14183 VALIDATED 1601942 WDR83 WD repeat domain 83 This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] 19 19 19 p13.2 12667332 12676360 + 12638628 12647646 + 12777618 12786646 + 6480464 11991638;16407229;15489334;15118098;12477932;8125298;17058450;19429104;7757816;17207965;16712791;22491477;22318606;22365833;23439680;22505724 84292 F8VSE4;G3V221;H0YIE8;H7C0S9;Q9BRX9 ABBA01029782;ABBA01029783;AC010422;AK074525;AK223195;AK314164;AMYH01009494;BC005870;CB143206;CH471106;NG_015814;NM_001099737;NM_032332;NR_029375;Z46189 AAH05870;ADQ32315;BAD96915;BAG36848;EAW84282;EAW84283;EAW84284;NP_001093207;NP_115708;Q9BRX9 Hs.657204 1734672;1743445;2118878;2119630;5491691 D19S677E;GDB:335318;MARC_7999-8000:996688236:1;WI-18725;WI-19573 MGC4238;MORG1 MAPK organizer 1;OTTHUMP00000240871;OTTHUMP00000240876;WD repeat domain-containing protein 83;mitogen-activated protein kinase organizer 1 APPROVED protein-coding ENSG00000123154 32672 14730 REVIEWED 1605383 WDR83OS WD repeat domain 83 opposite strand 19 19 19 p13.2 12668595 12670179 - 12639887 12641449 - 12778881 12780465 - 6480464 15489334;14702039;12477932;10810093;17207965;22645275 51398 M0R1D5;Q9Y284 AA694460;ABBA01029783;AC010422;AF059620;AF078861;AF151898;AK091030;AK311944;AMYH01009494;BC001192;BC042919;BC061912;BG818399;CH471106;CQ834262;CS488890;NG_008318;NG_015814;NM_016145 AAD34135;AAD44493;AAG43119;AAH01192;AAH42919;AAH61912;ADQ33050;BAG34885;CAH05346;CAM55964;EAW84285;EAW84286;NP_057229;Q9Y284 Hs.108969;Hs.657204 2119630;5491691 MARC_7999-8000:996688236:1;WI-18725 C19orf56;PTD008 UPF0139 membrane protein C19orf56;WDR83 opposite strand;hypothetical protein LOC51398;protein Asterix APPROVED protein-coding 30203 17922 VALIDATED 6481557 WDR95P WD40 repeat domain 95, pseudogene 13 31651391 31689836 + 100873795 ABBA01010121;AL137142;AL158065;AMYH01005013;NG_032519 pseudo 42637 INFERRED 1606735 WDR88 WD repeat domain 88 19 19 19 q13.11 30316626 30360287 + 38314838 38358545 + 33622998 33666705 + 6480464 12477932;21832049;19850743 126248 K7EPH1;Q6ZMY6 ABBA01039615;ABBA01039616;ABBA01039617;ABBA01039618;AC008738;AI982942;AK131444;AMYH01009701;BC031227;HC007384;NM_173479 AAH31227;AAI48667;BAD18589;CBH19497;NP_775750;Q6ZMY6 Hs.211046 PQWD PQQ repeat and WD repeat domain containing;PQQ repeat and WD repeat-containing protein;WD repeat-containing protein 88 protein-coding ENSG00000166359 26999 14033 VALIDATED 1350133 WDR96 WD repeat domain 96 10 10 10 q25.1 99630515 99732956 - 105879636 105982110 - 105889646 105992120 - 737633;6480464 12477932 16344560;14702039;19913121;16385451;18839057;20462248 80217 G5E9L1;H0Y4U9;H7BZT8;Q5TA04;Q5TA05;Q8NDM7 ABBA01063087;AK026597;AK093325;AK295018;AL136901;AL139341;AL357336;AL833836;AMYH01003033;AW269011;BC036647;BC071565;CH471066;DA681478;DB065957;NM_025145 AAH36647;BAB15506;BAC04133;BAG58077;CAB66835;CAD38696;EAW49605;EAW49606;EAW49607;EAW49608;EAW49609;NP_079421;Q8NDM7 Hs.288927 1688054;1988696 REN65252;RH15646 C10orf79;FLJ22944;FLJ36006;RP11-373N18.2;bA373N18.2 WD repeat-containing protein 96;WD repeat-containing protein C10orf79 APPROVED protein-coding ENSG00000197748 26684 07625 PROVISIONAL 1604213 WDR90 WD repeat domain 90 16 16 16 p13.3 899531 917986 + 639364 657830 + 699363 717829 + 6480464 14702039;12477932;11572484;11157797;23446634 197335 F8VUX9;G3V201;H0YHN4;H0YHV6;H0YI59;H0YIW5;Q8NBB8 AB067511;ABBA01030359;AE006464;AK091062;AK092719;AK093609;AK093802;AK126622;AK131510;AL022341;AMYH01006999;BC062304;BC065836;BC121185;BC121186;NM_145294;Z92544 AAH65836;AAI21186;AAI21187;AAK61239;BAB67817;BAC03575;BAC04205;BAC04225;BAD18654;NP_660337;Q96KV7 Hs.511903 1686861;1689853;1697220;2126835;2126837;5016352;5022200;5022578 A005Y21;D1S1423;G20595;L18426;L30021;RH102102;RH36857;RH80151 C16orf15;C16orf16;C16orf17;C16orf18;C16orf19;FLJ36483;FLJ44660;KIAA1924 OTTHUMP00000045700;OTTHUMP00000241275;WD repeat-containing protein 90 protein-coding ENSG00000161996 26960 08311;14118 PROVISIONAL 1605887 WDR92 WD repeat domain 92 This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 2 2 2 p14 68206901 68234275 - 68210785 68238160 - 68357281 68384692 - 6480464 16487927;14702039;12477932;22610502;16600877;19450687;22863883;22939629;14676191;15342556;21139048;21906983;18538670 116143 H7C389;Q8ND98;Q96MX6 ABBA01075479;ABBA01075480;AC017083;AK056303;AK058090;AK090527;AL834142;AMYH01010413;AY541587;BC014022;BC020271;BC036904;BC066657;BP271204;CH471053;NM_001256476;NM_138458;NR_046234 AAH14022;AAH66657;AAS48106;AAY14713;ACE86470;ACE87151;ACE87810;ACT64497;BAB71143;BAB71660;CAD38855;EAW99880;EAW99881;EAW99882;EAW99883;NP_001243405;NP_612467;Q96MX6 Hs.631877 1670511;5014039;5014051;5015619;5037552 D11S3114;D22S1584;D8S2278;D8S2279;RH68554 FLJ31741 OTTHUMP00000159961;OTTHUMP00000205522;WD repeat-containing protein 92;WD repeat-containing protein Monad;monad APPROVED protein-coding ENSG00000243667 25176 14012 610729 VALIDATED 1346298 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 2 2 2 q24.2 153706784 153757716 - 159800558 159851309 - 160092304 160143236 - 737633;1580863;6480464 12477932 15815621;15489334;14702039;11329013;8889548 151525 B8ZZF2;D3DPA6;Q8N9V3 ABBA01004860;ABBA01004861;AC008277;AC009307;AK093494;AK129983;AL040518;AMYH01011204;AMYH01011205;BC029520;BG186973;CB240898;CH471058;DR000438;NM_001128212;NM_001128213;NM_152528 AAH29520;AAX93043;BAC04184;EAX11408;EAX11409;EAX11410;EAX11411;EAX11412;EAX11413;EAX11414;EAX11415;EAX11416;NP_001121684;NP_001121685;NP_689741;Q8N9V3 Hs.20848 1337695;1758861;1769421 D2S2190;RH68828;SHGC-150979 FLJ36175;UBOX6;WDSAM1 2610014F08Rik;OTTHUMP00000162899;OTTHUMP00000204785;OTTHUMP00000204786;OTTHUMP00000204788;WD repeat, SAM and U-box domain containing 1;WD repeat, SAM and U-box domain-containing protein 1 protein-coding ENSG00000196151 26697 08773 VALIDATED 1606020 WDR91 WD repeat domain 91 7 7 7 q33 129606070 129633795 - 134520525 134546811 - 134868590 134896316 - 6480464 16381901;15489336;14702039;12477932;11230166;11076863;11042152;16169070 29062 C9J1X0;Q9H062 AACC02000025;ABBA01001113;ABBA01001114;AC009542;AC083862;AF161534;AK001606;AK022935;AK074466;AL136940;AMYH01017955;BC009939;BC017246;BC063394;BX640957;CH236950;CH471070;CR533561;NM_014149 A4D1P6;AAF29021;AAH09939;AAH17246;AAH63394;BAA91785;BAB14316;CAB66874;CAE45977;CAG38592;CAL38087;EAL24062;EAW83842;EAW83843;EAW83844;EAW83845;NP_054868 Hs.459858 1645531;1647766;1660964;2156100;5491461 GDB:1317916;MARC_13897-13898:1007564522:1;RH12504;RH45889;WI-12424 HSPC049 OTTHUMP00000207985;OTTHUMP00000207986;WD repeat-containing protein 91 protein-coding ENSG00000105875 24997 11035 VALIDATED 1316567 WDR89 WD repeat domain 89 14 14 14 q23.2 44114416 44159247 - 63133510 63178344 - 64063757 64108641 - 6480464 18029348;15635413;15489334;14702039;12477932;16169070;17207965;21832049;21906983;15342556;16344560 112840 G3V4B8;Q96FK6 ABBA01018330;ABBA01018331;ABBA01018332;ABBA01018333;AF115513;AK095324;AL136038;AMYH01005793;BC010698;BI603622;BP278550;BX248008;CH471061;DA882425;DB178690;NM_001008726;NM_001258272;NM_080666 AAH10698;AAO06950;ADQ32353;BAC04530;CAD62336;EAW80831;EAW80832;NP_001008726;NP_001245201;NP_542397;Q96FK6 Hs.655666;Hs.741323 1336741;1850207;2145268 D14S1001;SHGC-30609;SHGC-36643 C14orf150;MGC9907;MSTP050 OTTHUMP00000179056;OTTHUMP00000245216;WD repeat-containing protein 89 protein-coding 20489 12635 VALIDATED 1352233 WEE2 WEE1 homolog 2 (S. pombe) 7 7 7 q32 136129792 136152709 + 141054622 141077540 + 141408153 141431071 + 6907045 16341674;14702039;11181995;11029659;18029348;23568457;22623531 494551 H7C5P0;P0C1S8 AACC02000020;ABBA01034109;AC004918;AK131218;AMYH01017998;BG402079;BM790836;CH236950;CH471070;NM_001105558 AAI72300;EAW83977;NP_001099028;P0C1S8 Hs.657927 1341880;1644295;7184454 D7S2513;G31021 FLJ16107;WEE1B OTTHUMP00000212265;wee1-like protein kinase 1B;wee1-like protein kinase 2;wee1B kinase protein-coding ENSG00000214102 19684 614084 VALIDATED 1321224 WDTC1 WD and tetratricopeptide repeats 1 1 1 1 p36.11 25958352 26032299 + 27433746 27507322 + 27561007 27635110 + 737633;6480464 12477932 19238144;15489334;14702039;12717455;12421765;10470851;18247557;21145461;20562859;16949367;16964240;19615732;20508642;18029348;20360068;21987572;21139048;16344560;19295130;22053931;22797925 23038 H0YEI6;Q8N5D0 AB028960;ABBA01034964;ABBA01034965;ABBA01034966;ABBA01034967;ABBA01034968;ABBA01034969;AK001734;AK023101;AK023778;AK315564;AL590640;AL663123;AMYH01000422;BC032523;CH471059;DA185355;DB072151;HY218382;NM_001276252;NM_015023 AAH32523;ADZ15959;BAA82989;BAA91868;BAB14675;EAX07769;EAX07770;EAX07771;EAX07772;NP_001263181;NP_055838;Q8N5D0 Hs.469154 1775555;2115333;2146615 D1S2361;RH69371;SHGC-74467 ADP;DCAF9;KIAA1037 DDB1 and CUL4 associated factor 9;OTTHUMP00000004473;OTTHUMP00000004626;WD and tetratricopeptide repeats protein 1;adipose homolog protein-coding ENSG00000142784 29175 10307 VALIDATED 1604328 WDR93 WD repeat domain 93 15 15 15 q26.1 66636801 66689635 + 88035032 88087873 + 90234028 90286869 + 6480464 14702039;12477932 56964 B4DXL7;B4E3E2;H0YL01;Q6P2C0 ABBA01053019;AC013787;AC079075;AK097525;AK302032;AK304683;AL390084;AL390085;AMYH01006916;BC051026;BC064626;CH471101;NM_020212 AAH64626;BAC05088;BAG63429;BAG65454;CAB98208;CAB98209;EAX02063;EAX02064;EAX02065;NP_064597;Q6P2C0 Hs.177557 1777362 RH47277 WD repeat-containing protein 93 protein-coding ENSG00000140527 26924 14253 PROVISIONAL 1602877 WDYHV1 WDYHV motif containing 1 8 8 8 q24.13 120616625 120641908 + 124498146 124523441 + 124428965 124454260 + 6480464 16713569;16189514;14702039;12477932;8125298;17207965;19060904 55093 B4DE68;E5RHC2;E5RIY9;E9PRB7;H0YBV4;Q96HA8 ABBA01037874;ABBA01037875;ABBA01037876;ABBA01037877;AC021305;AK001066;AK225643;AK293492;AMYH01019004;BC008781;CH471060;NM_018024 AAH08781;ADQ32795;BAA91488;BAG56979;EAW92037;EAW92038;EAW92039;NP_060494;Q96HA8 Hs.18029 1671259;1711916 G49569;SGC30243 C8orf32;FLJ10204 N-terminal Gln amidase;OTTHUMP00000228396;OTTHUMP00000228397;OTTHUMP00000228399;WDYHV motif-containing protein 1;nt(Q)-amidase;protein N-terminal glutamine amidohydrolase;protein NH2-terminal glutamine deamidase protein-coding ENSG00000156795 25490 07653 PROVISIONAL 1349049 WFDC12 WAP four-disulfide core domain 12 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40460700 40461739 - 43185481 43186520 - 43752067 43753106 - 1580863;6480464 11779191;15950183;12975309;12206714;11780052;22318606 128488 Q8WWY7 ABBA01052657;AMYH01011937;AY037803;AY358678;CH471077;NM_080869;Z93016 AAI40218;AAI46515;AAK68848;AAQ89041;EAW75875;EAW75876;NP_543145;Q8WWY7 Hs.352180 1657195;5493065;5493743 AL023482;UniSTS:484093;UniSTS:494508 C20orf122;SWAM2;WAP2;dJ211D12.4 OTTHUMP00000043835;WAP four-disulfide core domain protein 12;protease inhibitor WAP2;putative protease inhibitor WAP12;single WAP motif protein 2;whey acidic protein 2 APPROVED protein-coding ENSG00000168703 16115 15674 609872 REVIEWED 1601701 WEE2-AS1 WEE2 antisense RNA 1 7 7 7 q34 136125771 136159662 - 141050607 141084499 - 141404138 141438030 - 14702039;12477932;16751776 285962 AACC02000020;ABBA01034109;AC004918;AC211775;AK098171;AMYH01017998;BC101358;BC101359;BC101360;BC131564;CH236950;CH471070;DQ593963;NR_015392 EAW83976 Hs.17589 1341880;1644295;1690220;7184454 D7S2513;G31021;RH80733 APPROVED miscrna ENSG00000228775 48669 08286 VALIDATED 1315782 WFDC10A WAP four-disulfide core domain 10A This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40966905 40968351 + 43691799 43693245 + 44258385 44259831 + 1580863 15950183;12206714;11780052;12477932 140832 Q9H1F0 ABBA01052662;AL031671;AMYH01011937;AY038182;BC131579;CH471077;NM_080753 AAI31580;AAK72469;EAW75827;NP_542791;Q9H1F0 Hs.199380 5492873 UniSTS:483098 C20orf146;WAP10;dJ688G8.3 OTTHUMP00000043659;WAP four-disulfide core domain protein 10A;putative protease inhibitor WAP10A APPROVED protein-coding 16139 15671 REVIEWED 1317355 WEE1 WEE1 homolog (S. pombe) This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008] 11 11 p15.3-p15.1 9550916 9567874 + 9595228 9611314 + 1580863;6480464;6907045 15070733;1384126;1396589;8348613;19126550;18950845;18820127;18560763;18385244;17764157;17687495;17431037;17192257;17081983;16533053;15964826;15837193;15761153;15735666;15583029;15324660;15302935;15253423;15175024;15150265;14760118;14702039;14534529;12679038;12669309;12601350;12525641;12477932;12214061;12186947;11839808;11691994;11531413;11528126;10775038;10564259;9618490;9268380;8432534;8428596;8084605;7774574;7743995;7673359;1840647;16429131;16354571;15254189;15817944;15780175;15725353;15265780;15142377;9499405;15778465;17620599;22289989;22623531;22692537;15735702;20832752;15161933;16085715;19858290;19903823;20038582;20508983;22719872;19821025;19913121;20628086;20372791;20668041;21529352;21358821;22907750;22990118;20367638;21859861;19953087;22641220;23051732;20360068;22118674;22112940;22935698;17586317;18514189;19020832;19275588;20012529;21318276;22017875;23531080;22942255 7465 E9PQ51;E9PRI3;E9PRU3;H0YEJ2;P30291;Q86V29 AB019580;AB019581;ABBA01061170;ABBA01061171;AC011979;AC122179;AJ277546;AK122837;AMYH01003385;BC051831;BC070052;BQ024511;BX641032;CH471064;NM_001143976;NM_003390;U10564;X62048 AAB60401;AAH51831;AAH70052;ACE86895;ACE87582;BAG53753;CAA43979;CAC14173;CAE46020;EAW68586;EAW68587;EAW68588;NP_001137448;NP_003381;P30291 Hs.249441 1738099;1771040;2141257;2191319;5015861;5037552;7185938 D10S16;D11S3727;D8S2279;MARC_17360-17361:1021651098:1;RH18120;WEE1 DKFZp686I18166;FLJ16446;WEE1A;WEE1hu OTTHUMP00000231338;OTTHUMP00000231339;WEE1+ homolog;wee1-like protein kinase;wee1A kinase APPROVED protein-coding ENSG00000166483 12761 01907 193525 REVIEWED 1352525 WFDC13 WAP four-disulfide core domain 13 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41039159 41045960 + 43764069 43770870 + 44330655 44337456 + 15950183;12477932;12206714;11780052 164237 Q8IUB5 ABBA01052665;AF454505;AL109656;AMYH01011938;BC104423;CH471077;FB746608;FB746702;NM_172005 AAI72328;AAN70988;CAT04632;CAT04669;EAW75820;EAW75821;NP_742002;Q8IUB5 Hs.406733;Hs.690734 2218642 WFDC13__4900 C20orf138;WAP13;dJ601O1.3 OTTHUMP00000043661;WAP four-disulfide core domain protein 13;protease inhibitor WAP13;protein WFDC13 APPROVED protein-coding ENSG00000168634 16131 15675 REVIEWED 68974 WFDC1 WAP four-disulfide core domain 1 This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. The encoded protein shares 81% amino acid identity with the rat ps20 protein, which was originally identified as a secreted growth inhibitor. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. Owing to its location and a possible growth inhibitory property of its gene product, this gene is suggested to be a tumor suppressor gene. [provided by RefSeq, Jul 2008] 16 16 16 q24.3 68630194 68665222 + 82885902 82920951 + 84328401 84363450 + 1580863;2291859;2291860;6480464 15305342;15305341 10967136;18842679;17942534;16303743;15489334;14702039;14522910;12477932;12032731;19488830;20090771;21545747;22589738 58189 Q9HC57 ABBA01016913;ABBA01016914;ABBA01016915;AC010551;AF169631;AF302109;AK075061;AL713785;AMYH01007867;BC029159;CH471114;NM_021197 AAG15263;AAG16647;AAH29159;ABM84291;ABM87681;BAC11377;EAW95486;EAW95487;NP_067020;Q9HC57 Hs.36688 1676162;1697850;1712310;5015619;5022578 D11S3114;D1S1423;G54064;RH102452;RH93139 PS20 OTTHUMP00000174994;WAP four-disulfide core domain 1 homolog;WAP four-disulfide core domain protein 1;prostate stromal protein ps20;ps20 growth inhibitor APPROVED protein-coding ENSG00000103175 15466 05614 605322 REVIEWED 1347537 WFDC8 WAP four-disulfide core domain 8 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40888320 40916496 - 43613205 43641379 - 44179791 44207965 - 1580863 15950183;12206714;11780052;21536719 90199 Q8IUA0 ABBA01052660;ABBA01052661;AF492015;AF492016;AL031663;AL121778;AL133571;AL591715;AMYH01011937;CH471077;HC007386;NM_130896;NM_181510 AAI72333;AAN70997;AAN70998;CAC39449;CAI21403;CBH19498;EAW75828;EAW75829;NP_570966;NP_852611;Q8IUA0 Hs.116128 2219754;5037552 D8S2279;WFDC8__4902 C20orf170;WAP8;dJ461P17.1 OTTHUMP00000043672;OTTHUMP00000043673;WAP four-disulfide core domain protein 8;WAP motif protein 1;protease inhibitor WAP8;putative protease inhibitor WAP8 APPROVED protein-coding ENSG00000158901 16163 11685 REVIEWED 1343114 WFDC10B WAP four-disulfide core domain 10B This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41021789 41042162 - 43746704 43767072 - 44313290 44333658 - 6480464 15950183;15489334;12477932;12206714;11780052 280664 Q8IUB3 ABBA01052664;ABBA01052665;AF454506;AF454507;AL031671;AL109656;AMYH01011938;BC121071;BC121072;CH471077;NM_172006;NM_172131 AAI21072;AAI21073;AAN70989;AAN70990;EAW75822;EAW75823;NP_742003;NP_742143;Q8IUB3 Hs.237392 2128595;2172664;5492873 RH66090;SHGC-31227;UniSTS:483098 WAP12 OTTHUMP00000160718;OTTHUMP00000196689;protease inhibitor WAP12;protein WFDC10B APPROVED protein-coding ENSG00000182931 20479 15672 REVIEWED 1351256 WFDC11 WAP four-disulfide core domain 11 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40985710 41007377 - 43710616 43732292 - 44277202 44298878 - 22318606;15950183;15489334;12477932;12206714;11780052;20379614;17207965 259239 Q8NEX6 ABBA01052663;ABBA01052664;AL031671;AMYH01011938;AY047609;BC062670;CH471077;NM_147197 AAH62670;AAK97771;ADQ32079;EAW75824;EAW75825;NP_671730;Q8NEX6 Hs.374924 1857354 Z94559 MGC71905;WAP11 OTTHUMP00000043657;OTTHUMP00000043658;protease inhibitor WAP11;protein WFDC11 APPROVED protein-coding ENSG00000180083 20478 15673 REVIEWED 1313240 WFDC3 WAP four-disulfide core domain 3 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41113350 41131041 - 43836254 43853954 - 44402847 44420547 - 1580863;6480464 15950183;15489334;12477932;12206714;11780052;10680116 140686 F2Z2G4;F2Z2G5;H0Y2V5;Q8IUB2 ABBA01052667;AF488306;AL050348;AL591713;AMYH01011938;BC026014;BC102013;BC102014;BX091378;CH471077;NM_080614 AAH26014;AAI02014;AAI02015;AAI46427;AAI48861;AAN70993;CAC39444;EAW75813;EAW75814;EAW75815;EAW75816;EAW75817;NP_542181;Q8IUB2 Hs.419126 1649595;1855414;2126913;2183988 G01538;G18105;Z94517;Z94564 WAP14;dJ447F3.3 OTTHUMP00000031166;OTTHUMP00000196627;OTTHUMP00000196629;WAP four-disulfide core domain protein 3;protease inhibitor WAP14;putative protease inhibitor WAP14;whey acidic protein 14 APPROVED protein-coding ENSG00000124116 15957 15676 REVIEWED 1352143 WFDC6 WAP four-disulfide core domain 6 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Read-through transcription exists between this gene and the upstream SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. [provided by RefSeq, Nov 2010] 20 20 20 q13.12 40871355 40876654 - 43596250 43601548 - 44162836 44168134 - 1580863;6480464 15950183;12477932;12206714;11780052 140870 Q5JYQ5;Q9BQY6 ABBA01052660;AF411861;AL031663;AMYH01011937;BC101600;BC101604;CH471077;NM_080827 AAI01601;AAI01605;AAN03684;CAI21404;CAI21405;EAW75833;EAW75834;EAW75835;NP_543017;Q9BQY6 Hs.673237 C20orf171;MGC126649;MGC126653;WAP6;dJ461P17.11 OTTHUMP00000043709;OTTHUMP00000043710;WAP four-disulfide core domain protein 6;protease inhibitor WAP6;putative protease inhibitor WAP6 APPROVED protein-coding ENSG00000243543 16164 15677 REVIEWED 1353350 WFS2 Wolfram syndrome 2 7240710 10739754 54117 12763 604928 1344525 WFDC2 WAP four-disulfide core domain 2 This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008] 20 20 q13.12 43531808 43543586 + 44098394 44110172 + 1580863;6480464 1686187;19337252;18546615;17448597;16740002;16600032;15950183;15781627;15489334;12839961;12477932;12206714;11965550;11780052;10570965;9685187;8125298;1693137;16169070;22875782;23001907;21923475;22373583;17207965;19732003;19774626;19927341;20171287;21115941;20490961;20593939;20381233;23234010;22745553;22993374;22967799;23343214;22430259;22684816;22342977;21720250;20360068;21633297;21738039;22015929;22037318;22524132;22105734;22117965;22284961;22301440;21833668;23139753;22962406;23093276;23093277;23096757;23084584;23426716;23095772;23353556;22426406;22525819 10406 A8K2M3;Q8WXW2 ABBA01052660;AF330259;AF330260;AF330261;AF330262;AK225528;AK290288;AK311966;AL031663;AMYH01011937;AY212888;BC039816;BC046106;BI759775;CH471077;CR456977;GM744623;GN341844;NM_006103;X63187 AAH46106;AAL37485;AAL37486;AAL37487;AAL37488;AAO52683;ACE86584;ACE87267;ADQ32963;BAF82977;CAA44869;CAG33258;CAV31701;CAY39341;EAW75836;EAW75837;EAW75838;EAW75839;EAW75840;NP_006094;Q14508 Hs.2719 1675144;2154897 A008O33;SGC30446 EDDM4;HE4;MGC57529;WAP5;dJ461P17.6 OTTHUMP00000031141;WAP domain containing protein HE4-V4;WAP four-disulfide core domain protein 2;epididymal protein 4;epididymal secretory protein E4;epididymis-specific, whey-acidic protein type, four-disulfide core;major epididymis-specific protein E4;putative protease inhibitor WAP5 APPROVED protein-coding ENSG00000101443 15939 11684 REVIEWED 1312741 WFDC5 WAP four-disulfide core domain 5 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40446736 40452445 - 43171507 43177217 - 43738093 43743813 - 1580863 17511965;16462094;15489334;12975309;12477932;12206714;11780052;10680116;10441517;19906707;17207965;17112726;17113138 149708 Q8TCV5 ABBA01052657;AMYH01011937;AY038181;AY358822;BC039173;CH471077;NM_145652;Z93016 AAH39173;AAK72468;AAQ89181;ADQ32433;EAW75877;EAW75878;NP_663627;Q8TCV5 Hs.375031 2218880 WFDC5__4901 PRG5;WAP1;dJ211D12.5 OTTHUMP00000043833;OTTHUMP00000043834;WAP four-disulfide core domain protein 5;p53-responsive gene 5 protein;protease inhibitor WAP1;putative protease inhibitor WAP1 APPROVED protein-coding ENSG00000175121 20477 605161 REVIEWED 1342711 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008] 16 16 16 p13.3 881146 884250 + 621013 624117 + 681012 684116 + 1580863;6480464 15146197;18596030;16791741;12709070;12477932;11928817;11274388;11157797;21054789;21900206 117166 Q96NZ8 ABBA01030360;ABBA01030361;AE006464;AF422194;AK075356;AK128777;AK314757;AMYH01006998;BC101602;BC101606;CH471112;CN425794;NM_053284;Z84479 AAI01603;AAI01607;AAK61237;AAL18839;BAC11566;BAG37295;EAW85790;NP_444514;Q96NZ8 Hs.345818 1856827;2122978;2131570;5093330 A009L31;G32656;RH41911;SHGC-60694 C16orf12;MGC126651;MGC126655;RJD2;WFDC20A;WFIKKN GASP-2;OTTHUMP00000115417;WAP four-disulfide core domain 20A;WAP, FS, Ig, KU, and NTR-containing protein;WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing protein;WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 1;growth and differentiation factor-associated serum protein 2;hGASP-2 APPROVED protein-coding ENSG00000127578 30912 12153 608021 REVIEWED 1606472 WHAMM WAS protein homolog associated with actin, golgi membranes and microtubules 15 15 15 q25.2 61077027 61102654 - 81275027 81300667 + 83477973 83503613 + 6480464 18812086;18614018;18226259;14702039;11853319;23027905;18029348;23087206 123720 Q8TF30 AB075851;ABBA01029430;AC044907;AK097947;AK126887;AMYH01006856;CH471188;NM_001080435 AAI67774;BAB85557;BAC05201;EAW62438;NP_001073904;Q8TF30 Hs.377360 2122417;2140753;5014051;5016478;5020948;5022200;5037552 D8S2278;D8S2279;G35510;GDB:434012;L18426;RH45182;STS-R78892 KIAA1971;WHDC1 WAS protein homology region 2 domain containing 1;WAS protein homology region 2 domain-containing protein 1;WASP homolog-associated protein with actin, membranes and microtubules;WH2 domain-containing protein 1 protein-coding ENSG00000156232 30493 612393 PROVISIONAL 1346353 WHCR Wolf-Hirschhorn syndrome chromosome region 7240710 7467 12764 194190 1346693 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008] 17 17 17 q21.33 45373930 45381027 + 46267604 46274708 + 48912605 48919709 + 6480464 18596030;16344560;12975309;12709070;12595574;11928817;11329013;12477932;20026378;21054789;22395277 124857 C9J6G4;Q8TEU8 ABBA01041248;AC091062;AF468657;AK127743;AK131196;AK312821;AL537450;AMYH01008478;AY358142;BC140842;BC140844;BG221308;BQ954191;CH471109;DB235333;NM_175575 AAI40843;AAI40845;AAL77058;AAQ88509;BAD18391;BAG35678;BAG54563;EAW94579;EAW94580;NP_783165;Q8TEU8 Hs.211475 GASP-1;WFDC20B;WFIKKNRP;hGASP-1 OTTHUMP00000221801;WAP four-disulfide core domain 20B;WAP, FS, Ig, two KU and NTR module related protein;WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing-related protein;WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 2;WFIKKN-related protein;growth and differentiation factor-associated serum protein 1;multivalent protease inhibitor protein APPROVED protein-coding ENSG00000173714 30916 18303 610895 REVIEWED 1350341 WFDC9 WAP four-disulfide core domain 9 The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 40945098 40968427 - 43669992 43693321 - 44236578 44259907 - 15950183;15489334;12477932;12206714;11780052 259240 Q8NEX5 ABBA01052662;AL031671;AMYH01011937;AW269752;AY047610;BC069295;BC101652;BC101656;CH471077;NM_147198 AAH69295;AAI01653;AAI01657;AAK97772;ADR82723;EAW75826;NP_671731;Q8NEX5 Hs.249828 1774501 Z94589 MGC126701;MGC126705;WAP9;dJ688G8.2 OTTHUMP00000043660;protein WFDC9 APPROVED protein-coding ENSG00000180205 20380 15678 VALIDATED 1346591 WHSC1L2P Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene 17 17 17 q21.31 38503687 38505809 - 39151127 39153891 - 41795682 41797804 - 11549311 100128016 ABBA01028401;ABBA01028402;AC055813;AMYH01008409;NG_008078;NG_009508 HsT36289;NSD4P;WHSC1L1P APPROVED pseudo 14647 INFERRED 6769470 WHAMMP1 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 1 15 q13.3 32812049 32825942 - 12477932 100288615 ABBA01007967;ABBA01157829;AC009673;AC135983;BC117556;BI910970;BX643549;CA841617;NR_036650 Hs.562620;Hs.668734 1857453;5024413 L17877;STS-T03898 WHDC1P1 pseudo 32361 VALIDATED 1602145 WHAMMP2 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2 15 15 q13.1 26768404 26799183 + 28982729 29003508 + 14702039;12477932;10332034 440253 AC055876;AF129926;AK091254;AMYH01006497;BC035099;BC066982;BC150524;NR_026589 Hs.558967;Hs.733870 1849107;2143101;2179733;5014740;5037552 D17S610;D8S2279;G29658;RH44663;SHGC-32610 FLJ33935;WHAMML2;WHDC1L2 APPROVED pseudo 32360 PROVISIONAL 1604174 WHAMMP3 WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 15 15 q11.2 20739169 20759798 - 23187728 23208357 - 6480464 18226259;14702039;12477932 339005 Q1A5X7 ABBA01040232;ABBA01040233;AC138649;AL833132;AMYH01006388;AMYH01006389;BC018097;BC044610;BC048987;BC093703;BC093705;DQ309039;DQ309040;NR_003521 ABD73923;ABD73924 Hs.744338 2143101;2179733;5014740;5015619;5022322;5037552 D11S2560;D11S3114;D17S610;D8S2279;G29658;RH44663 WHAMML1;WHDC1L1 APPROVED pseudo ENSG00000187667 27892 VALIDATED 731649 WFS1 Wolfram syndrome 1 (wolframin) This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 4 4 p16.1 6322478 6355893 + 6271577 6304992 + 1599813;1580863;6480464;6907045;7240710 9771706 21454619;16806192;16550584;16195229;16151413;16043233;16005363;15912360;15852062;15605410;15489334;15473915;15277431;15234338;14968315;12955714;12913071;12782971;12754709;12707947;12650912;12605098;12477932;12107816;12073007;11920861;11916957;11709538;11709537;11317350;11295831;11181517;11161832;10760554;10679252;10624825;10521293;10424813;8595423;17947299;16989814;14527944;9817917;11181571;19502414;19380854;19330314;19328217;19324937;19279076;19258739;19258404;19139842;19115052;19082521;19042979;19020324;18991055;18984664;18853134;18806274;18694974;18688868;18660851;18597214;18591388;18568334;18566338;18544103;18518985;18426861;18212765;18197395;18060660;18040659;17719176;17603484;17568405;17517145;17492394;16965966;16876316;7987399;16169070;21127832;19598235;19602701;19720844;19734900;19741467;19794065;19814620;19833888;19862325;19877185;20028947;20069065;20160352;20203524;20215779;20361036;20384434;20490451;20509872;20712903;20816152;20879858;20889853;20581827;19913121;20571754;20580033;20628086;20802253;16408729;16087305;15994758;21356526;22498363;21143470;23144361;22983116;21713316;21823543;21538838;21963094;21564155;21632151;21900206;21906983;22240535;20301607;20301750;21968327;21044950;21623591;22662265;23035048 7466 H0Y9G5;O76024 ABBA01012718;AC116317;AF084481;AK295986;AK312897;AMYH01013914;BC030130;BC069213;CH471131;NG_011700;NM_001145853;NM_006005;Y18064 AAC64943;AAH30130;ABW03561;BAG35744;BAG58761;CAA77022;EAW82396;EAW82397;EAW82398;NP_001139325;NP_005996;O76024 Hs.518602;Hs.727283 1335107;1335860;1668265;1729992;1772522;2119611;2219756 D4S126;D4S3007;D4S3023;G01790;SHGC-59709;WFS1__4904;WI-21965 FLJ51211;WFRS;WFS;WFSL;WOLFRAMIN OTTHUMP00000115499;OTTHUMP00000217278;wolframin APPROVED protein-coding ENSG00000109501 12762 05864 125853;222300;600965;606201;614296 REVIEWED 1605143 WIPF3 WAS/WASL interacting protein family, member 3 7 7 7 p14.3 29904882 29935185 + 29840866 29912316 + 29846170 29956682 + 6480464 12372256;14506234;17573773;14702039;12853948;11553796;18029348;21348202;21706016;22969067 644150 A6NGB9 AACC02000087;ABBA01056804;ABBA01056805;ABBA01056806;AC004912;AK094250;AMYH01017144;AMYH01017145;AW105171;BX107905;CH471073;NM_001080529 A6NGB9;AAI56552;EAW93924;NP_001073998 Hs.380698 1651933;1654084;1684610;1711856;1767363;2127903;5492025 D7S2044E;G49460;GDB:1317444;RH36247;RH41875;RH92582;ha2063 CR16;FLJ36931 Corticosteroids and regional expression protein 16 homolog;OTTHUMP00000202318;OTTHUMP00000202319;WAS/WASL-interacting protein family member 3 protein-coding ENSG00000122574 22004 612432 VALIDATED 1601845 WIBG within bgcn homolog (Drosophila) 12 12 12 q13.2 55948454 55974296 - 54581464 54607964 - 56295197 56321697 - 6480464;6907045 18026120;19410547;14702039;12483225;12477932;12438415;18482256;22863883;21832049;22939629;18029348;16009940;21044950;21628590;19953087;21139048;23084401 84305 F8VT68;F8VXH2;G3V5P2;H0YJW5;Q9BRP8 ABBA01008393;ABBA01008394;AC023055;AC025162;AJ459406;AK096922;AMYH01004497;BC006135;BC008292;BC009627;BC014976;CH471054;DB466388;NM_001143853;NM_032345 AAH06135;AAH09627;AAH14976;BAC04897;CAD30677;EAW96847;EAW96848;NP_001137325;NP_115721;Q9BRP8 Hs.505687;Hs.524488 1699600;2140319;5015619 D11S3114;RH103401;RH11289 MGC13064;PYM OTTHUMP00000243306;OTTHUMP00000243307;partner of Y14 and mago;protein wibg homolog protein-coding ENSG00000170473 30258 17940 VALIDATED 1317450 WHSC1 Wolf-Hirschhorn syndrome candidate 1 This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008] 4 4 p16.3 1842921 1953728 + 1873123 1983934 + 1580863;6480464;6907045;7240710 21527557;9618163;19481544;19121287;19059936;18182627;18172012;18156491;18036184;17942756;17719568;17239852;17081983;16682010;16197452;16115125;15734578;15677557;15489334;15257719;12715353;12477932;12433679;11337357;11252005;11152655;10945609;10470851;9787135;9354676;9207791;9063753;8889548;18029348;19454010;20634891;20974671;21293379;21385930;22797064;21832049;22939629;22099308;21788515;21139048;21555454;22028615;22586326;22972034;21720545;20301362;22751105;22645312;23241889;23159737 7468 D6R9V2;D6RFE7;D6RIS1;H0Y9L4;H0Y9U6;Q672J1 AB029013;ABBA01029524;AC105448;AF071593;AF071594;AF083386;AF083387;AF083388;AF083389;AF083390;AF083391;AF178206;AF178219;AF330040;AI339675;AI695058;AJ007042;AK026939;AK289697;AL132868;AMYH01013873;AY694128;BC020545;BC032731;BC052254;BC070176;BC094825;BC110899;BC141815;BC144464;BC152412;BM982021;CH471131;CX866583;DQ185035;NG_009269;NM_001042424;NM_007331;NM_133330;NM_133331;NM_133334;NM_133335 AAC24150;AAC24151;AAD19343;AAD19344;AAD19345;AAD19346;AAD21770;AAD21771;AAF23369;AAF23370;AAH20545;AAH52254;AAH70176;AAH94825;AAI41816;AAI52413;AAI66668;AAK00344;AAU09264;BAA83042;BAF82386;CAB45386;EAW82548;EAW82549;EAW82550;EAW82551;EAW82552;EAW82553;EAW82554;EAW82555;EAW82556;EAW82557;EAW82558;NP_001035889;NP_015627;NP_579877;NP_579878;NP_579889;NP_579890;O96028 Hs.113876 1656702;1665493;1672617;1677376;1678205;1695900;1698730;1700088;1731487;1768619;1770218;1789240;1846258;1849887;1911926;1911928;2120187;2125557;2128473;2154891;2218644;5015861;5016478;5020948;5022578;5037552;5109281;7185938 A006P34;D10S16;D1S1423;D1S1425;D4S114;D4S1184;D4S2522E;D4S2799;D4S521;D8S2279;ECD24349;G35510;G65620;GDB:434012;REN26772;REN26773;RH102926;RH103657;RH92099;SHGC-31432;SHGC-59511;SHGC-59822;SHGC-63596;SHGC-67304;SHGC-67654;SHGC-78855;WHSC1__4905 FLJ23286;KIAA1090;MGC176638;MMSET;NSD2;REIIBP;TRX5;WHS IL5 promoter REII region-binding protein;OTTHUMP00000159146;OTTHUMP00000196943;OTTHUMP00000220792;OTTHUMP00000220795;OTTHUMP00000220796;OTTHUMP00000220798;OTTHUMP00000220830;histone-lysine N-methyltransferase NSD2;multiple myeloma SET domain containing protein type III;multiple myeloma SET domain-containing protein;nuclear SET domain-containing protein 2;probable histone-lysine N-methyltransferase NSD2;protein trithorax-5;trithorax/ash1-related protein 5;wolf-Hirschhorn syndrome candidate 1 protein APPROVED protein-coding ENSG00000109685 12766 04259 194190;602952 REVIEWED 731989 WIF1 WNT inhibitory factor 1 The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010] 12 12 q14.3 63730673 63801383 - 65444404 65515346 - 1580863;2291868;727214;2291870;1643593;2291869;2293188;2298535;2291871;6480464;6907045 18325051;14517837;16575872;16488995;17145819;18432252;16436637;16501252 10201374;19496188;19453261;19307728;19174556;19085002;19054571;18701434;18256869;18093228;18079202;18005197;17384664;17171686;17094650;17012225;16609023;16525492;16516163;16476441;16428476;16427602;16007117;15735743;15489334;15389810;15377999;15351726;12975309;12477932;21743455;19528461;19570204;19690140;19773381;19787276;19885602;19887605;19926868;20066439;20119713;20197388;20334650;20364027;20395289;20421722;20697356;20874008;20573255;20844743;20376066;20811686;21052890;20596629;23193918;21642372;23316316;21873353;22333550;21819494;22002305;21928342;22504421;22901505;21988832;22951732;23358094;23417837;22315090;22951645;22986341 11197 F5H8A3;H0YFK7;Q9Y5W5 ABBA01026592;AC026124;AC135895;AF122922;AK301818;AL711431;AMYH01004551;AY358344;BC018037;BX647427;CH471054;DB560069;DC315426;NM_007191 AAD25402;AAH18037;AAQ88710;ABM83320;ABM86535;BAG63265;EAW97146;EAW97147;NP_009122;Q9Y5W5 Hs.284122 1705802;1719519;2108643;2135759;2140429;2175971 D12S1508;RH123480;SHGC-36877;SHGC-78985;STS-N90902;WIF1_7996 WIF-1 OTTHUMP00000239565;wnt inhibitory factor 1 APPROVED protein-coding ENSG00000156076 18081 05541 605186 REVIEWED 1319069 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. The function of the protein has not been determined. Two alternatively spliced variants have been described. [provided by RefSeq, Jul 2008] 8 8 p11.2 38251717 38358947 - 38132560 38239790 - 1599847;6480464;6907045;7240710 11986249 20670891;21555454;16682010;15983384;15489334;14702039;12477932;11549311;11374904;10802047;18029348;20940404;20936779;20599755;23011637;23269674;19471022;20972266;22037555;20963938 54904 B7ZL11;E9PKA2;E9PKL3;E9PQ95;H0YE68;Q9H9W9 ABBA01023536;ABBA01023537;ABBA01023538;ABBA01023539;AC087362;AC087623;AF255649;AF318339;AF332468;AF332469;AJ295990;AJ295991;AJ295992;AK000360;AK022560;AK127594;AL832895;AMYH01018653;BC000030;BC007787;BC012059;BC062631;BC073858;BC101717;BC107734;BC113469;BC115006;BC115007;BC143510;CH471080;NG_023292;NM_017778;NM_023034 AAG44637;AAH12059;AAH62631;AAI01718;AAI07735;AAI13470;AAI15007;AAI43511;AAK00354;AAK00355;AAL55846;ADZ15361;BAA91110;BAB14099;CAC28350;CAC28351;CAC28352;EAW63319;EAW63320;EAW63321;EAW63322;NP_060248;NP_075447;Q9BZ95 Hs.608111 1335043;1658027;1704834;1735748;1771775;1772095;2106745;2116759;2132117;2172338 A006Q29;D8S1361E;D8S1791;G17256;SHGC-2825;SHGC-57894;SHGC-64109;SHGC-79887;WHSC1L1__4906;WI-17448 DKFZp667H044;FLJ20353;MGC126766;MGC142029;NSD3;pp14328 OTTHUMP00000228478;OTTHUMP00000228479;OTTHUMP00000228480;OTTHUMP00000228487;WHSC1-like 1 isoform 9 with methyltransferase activity to lysine;WHSC1-like protein 1;Wolf-Hirschhorn syndrome candidate 1-like 1 protein;histone-lysine N-methyltransferase NSD3;nuclear SET domain-containing protein 3;protein whistle;wolf-Hirschhorn syndrome candidate 1-like protein 1 APPROVED protein-coding ENSG00000147548 12767 06155 601626;607083 REVIEWED 736993 WIPF1 WAS/WASL interacting protein family, member 1 This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] 2 2 q31.1 175132548 175255873 - 175424302 175547627 - 1580863;6480464 9405671;19155218;18258743;17949983;17890224;17711847;17213309;16606694;16488394;16344560;15489334;15469902;14702039;12591280;12504004;12477932;12437929;12372256;12147689;12029088;11869681;11687573;10878810;10358064;10202051;10087612;9694849;12620186;16055720;17474147;18029348;19041431;19399471;19817875;20936779;22558309;21139048;22231303;19322201;19531213;21810783;21706016;21988832 7456 B8ZZ90;C9JB04;C9JTB9;E9PB87;O43516;Q2YDC4 AA599214;AA903457;ABBA01062195;ABBA01062196;AC010894;AC104595;AF031588;AF106062;AK097901;AK301271;AK304194;AL529597;AL832275;AMYH01011284;BC002914;BC045584;BC110288;BG820214;BM475558;BM542331;BQ016063;BQ441937;BX640870;CH471058;DA674627;NG_032009;NM_001077269;NM_003387;X86019 AAC03767;AAD45972;AAH02914;AAI10289;AAY14708;ACE86810;ACE87497;BAG62833;BAG65074;CAA60014;CAE45928;EAX11129;EAX11130;EAX11131;EAX11132;EAX11133;EAX11134;EAX11135;NP_001070737;NP_003378;O43516 Hs.128067 1334809;1662097;1687043;1700792;1739797;1754121;1754283;1765285;1787746;2136288;2140557;2142627;2154135;2156385;2169122 D2S2108E;D2S2307;D2S2630;D2S2870;RH104021;RH45506;RH68869;RH69595;RH69899;RH70933;RH92504;SHGC-132156;SHGC-132298;SHGC-148783;SHGC-173347 MGC111041;PRPL-2;WASPIP;WIP OTTHUMP00000163172;OTTHUMP00000163178;OTTHUMP00000205182;OTTHUMP00000205183;OTTHUMP00000205184;WAS/WASL-interacting protein family member 1;WASP-interacting protein;protein PRPL-2;wiskott-Aldrich syndrome protein-interacting protein APPROVED protein-coding ENSG00000115935 12736 03835 602357;614493 REVIEWED 1603178 WIPF2 WAS/WASL interacting protein family, member 2 This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008] 17 17 17 q21.2 35036339 35098581 + 35629100 35691965 + 38375574 38438439 + 6480464 16344560;15498874;16751776;15489334;15146197;14702039;14506234;12477932;12213210;11829459;8889548;8619474;20936779;16055720;22939629;19531213;22558309 147179 A8MWR2;J3KSA3;J3QKM5;J3QQS0;Q8TF74 AB043786;ABBA01031833;ABBA01031834;ABBA01031835;ABBA01031836;AC068669;AC080112;AF370396;AJ431177;AK026913;AK055025;AK055057;AK289578;AK289779;AK290301;AK311544;AK315836;AL834239;AMYH01008382;AMYH01008383;AMYH01008384;AU138315;BC019706;BC025965;BC030561;BC043408;BC047435;BC064504;BC065551;CB240594;CH471152;CN404607;DQ586635;NM_133264;U90911 AAH65551;AAQ15232;BAB85113;BAF82267;BAF82468;BAF82990;BAF98727;BAG51456;CAD24007;CAH56360;EAW60648;EAW60649;NP_573571;Q8TF74 Hs.421622;Hs.705989;Hs.731598 1663946;1673989;1739427;1754111;1848251;2126253;2168134;2170711;2182733;5015619;5015961;5016596;5022651;7185187 D11S2921;D11S3114;D15S1477;D16S2929E;D17S1423E;D17S1428E;D17S1984;GDB:631802;RH18444;SHGC-132143;STS-H26178;WI-15402;WI-20730 WICH;WIRE OTTHUMP00000164467;OTTHUMP00000164468;WAS/WASL-interacting protein family member 2;WASP-binding protein;WASP-interacting protein-related protein;WIP- and CR16-homologous protein;WIP-related protein APPROVED protein-coding 30923 18304 609692 VALIDATED 1345324 WISP3 WNT1 inducible signaling pathway protein 3 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 6 6 q21 112481971 112497582 + 112375278 112390889 + 1599850;1580863;6480464;7240710 10471507 9843955;19453261;19064006;18321996;17483925;17406949;17363178;17286957;16480948;16457688;15650268;15601861;15517620;15300987;14574404;12975309;12477932;12105881;12082632;7687569;20372786;20014943;20395207;20403915;21159247;21528827;22791401;21628462;21525039;21391218;21921419;23226100;21993478;22294415;22685593;22805309;22987568 8838 F8WC24;G3V0J1;I6L968;O95389;O95958;Q3T1A9 AB075040;ABBA01026080;AF100781;AF143679;AL512299;AMYH01016597;AY358349;AY358350;BC012028;BC035250;BC102031;BC105940;BC105941;CH471051;NG_011748;NM_003880;NM_198239;Z99289 AAC96323;AAD31517;AAH12028;AAI02032;AAI05941;AAI05942;AAQ88715;AAQ88716;BAB78569;EAW48273;EAW48274;EAW48275;EAW48276;EAW48277;NP_003871;NP_937882;O95389 Hs.558428 1698600;2107771;2156489 AL022440;RH102853;WISP3_7927 CCN6;LIBC;MGC125987;MGC125988;MGC125989;PPAC;PPD CCN family member 6;OTTHUMP00000017037;OTTHUMP00000203189;OTTHUMP00000203320;WISP-3;WNT1-inducible-signaling pathway protein 3 APPROVED protein-coding ENSG00000112761 12771 04550 208230;603400 REVIEWED 1343607 WMS Weill-Marchesani syndrome 8914744 12772 1605986 WIPI1 WD repeat domain, phosphoinositide interacting 1 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI1, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008] 17 17 17 q24.2 62988989 63025394 - 63929017 63965248 - 66417422 66453653 - 6480464 15602573;15020712;17618624;15489334;14702039;12477932;16169070;21317285;20562859;19936222;21564513 55062 G5EA37;K7EK57;K7EKC5;K7EKN0;K7ELY0;Q5MNZ9 ABBA01028960;AC007780;AK000917;AK301830;AMYH01008589;AY691424;BC039867;CH471099;DC380076;NG_007093;NM_017983 AAH39867;AAV80760;ADZ15640;BAA91423;BAG63275;EAW89057;EAW89058;EAW89059;NP_060453;Q5MNZ9 Hs.463964 1669646;1675738;1679964;1703658;1717925;1762277;1762473;1783580;2146667 RH122789;RH16580;RH80612;RH93843;SHGC-146131;SHGC-146295;SHGC-155164;SHGC-78791;STS-N51941 ATG18;ATG18A;FLJ10055;WIPI49 WD repeat domain phosphoinositide-interacting protein 1;WD40 repeat protein Interacting with phosphoInositides of 49kDa;WD40 repeat protein interacting with phosphoinositides of 49 kDa;WIPI 49 kDa;WIPI-1 alpha;atg18 protein homolog APPROVED protein-coding ENSG00000070540 25471 08540 609224 VALIDATED 69487 WISP1 WNT1 inducible signaling pathway protein 1 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011] 8 8 q24.22 134272494 134310753 + 134203282 134243933 + 1580863;6480464 17353931;9843955;19453261;19339243;19287097;19282865;19240061;19180479;18701807;18404666;18006828;17657846;17593496;17406949;17381509;16421571;15650268;15489334;12805222;12717393;12529380;12477932;11855747;11782444;11751417;11598131;11571650;10716946;20372786;20628624;20677014;17579708;19238344;19926868;20010302;20074638;20379614;20403915;20506641;21109017;21498727;20684029;22778029;21453685;21321938;21516124;19069651;18029348;23316072;23300278;23313051 8840 E5RG88;O95388;Q5JBS7 AB034725;ABBA01014197;ABBA01014198;ABBA01014199;AF100779;AF192304;AF223404;AI347990;AK027294;AK293031;AK301508;AK315822;AMYH01019038;AW291472;AY196486;AY196487;AY196488;BC074840;BC074841;BX476382;CH471060;DN997366;EF025923;NG_029529;NM_001204869;NM_001204870;NM_003882;NM_080838;NR_037944 AAC96321;AAF35350;AAH74840;AAH74841;AAP43924;AAP43925;AAP43926;ABK13678;BAB17849;BAF85720;BAF98713;BAG63017;EAW92162;EAW92163;NP_001191798;NP_001191799;NP_003873;NP_543028;O95388 Hs.492974 1690430;1698652 RH102883;RH76344 CCN4;FLJ14388;WISP1c;WISP1i;WISP1tc CCN family member 4;OTTHUMP00000226716;OTTHUMP00000226718;OTTHUMP00000226719;OTTHUMP00000226720;WISP-1;WNT1 induced secreted protein 1;WNT1-inducible-signaling pathway protein 1;Wnt-1 inducible signaling pathway protein 1;wnt-1 signaling pathway protein 1;wnt-1-induced secreted protein APPROVED protein-coding 12769 16019 603398 REVIEWED 1351496 WISP2 WNT1 inducible signaling pathway protein 2 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008] 20 20 q13.12 42777299 42789866 + 43343885 43356452 + 1580863;6480464 9843955;19453261;18794149;18559502;18070926;17406949;17383817;16939222;16525711;16038875;15798095;15489334;15340161;14981145;14767469;12975309;12659671;12477932;12056810;11855747;11780052;10358067;20010302;20372786;21262769;22020939;22616691;23359679;23251661 8839 O76076;Q6PEG3 ABBA01052650;ABBA01052651;AF074604;AF083500;AF100780;AK129660;AK313853;AL139352;AMYH01011934;AY358915;BC017782;BC058074;BC064379;CH471077;NM_003881 AAC26794;AAC70350;AAC96322;AAH17782;AAH58074;AAH64379;AAQ89274;BAC85210;BAG36581;EAW75902;EAW75903;NP_003872;O76076 Hs.592145 CCN5;CT58;CTGF-L CCN family member 5;OTTHUMP00000031770;OTTHUMP00000063227;WISP-2;WNT1-inducible-signaling pathway protein 2;connective tissue growth factor-like protein;connective tissue growth factor-related protein 58;wnt-1 signaling pathway protein 2 APPROVED protein-coding ENSG00000064205 12770 16020 603399 REVIEWED 1346670 WNK3 WNK lysine deficient protein kinase 3 This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] X X p11.22 54239580 54401163 - 54219256 54384438 - 6480464 16501604;19470686;18768590;18701621;18498374;17975670;15772651;15194194;11571656;11498583;10997877;7757816;23387299;19913121;20628086;20525693;14702039;16275913;17961084;19636250;20094755;20819979;22864523;23482566;21813709;21613606;21139048 65267 B1AQN8;Q9BYP7 AB046786;ABBA01069642;ABBA01069643;ABBA01069644;ABBA01069645;ABBA01069646;ABBA01069647;ABBA01069648;ABBA01069649;ABBA01069650;ABBA01069651;ABBA01069652;ABBA01069653;ABBA01069654;ABBA01069655;ABBA01069656;ABBA01069657;ABBA01069658;ABBA01069659;ABBA01069660;ABBA01069661;ABBA01069662;ABBA01069663;AJ409088;AK054999;AK124653;AL049793;AL591766;AMYH01022430;AY082340;AY352048;CH471154;NG_021259;NM_001002838;NM_020922;R44257;Z44479;Z84469 AAI56470;AAL99253;AAR89465;BAB13392;CAC32455;EAW93175;EAW93176;NP_001002838;NP_065973;Q9BYP7 Hs.92423 1645510;1675403;1682179;1691042;1702238;1787210;1787262;2121879;2145999;2166902;2180927;2182482;5024541;5037552 D1S3688;D8S2279;DXS1013E;DXS7533;DXS7567;DXS8325;RH26059;RH98462;RH99195;SGC31719;SHGC-106582;SHGC-144031;STS-M78294;X99131 FLJ30437;FLJ42662;KIAA1566;PRKWNK3 OTTHUMP00000023369;OTTHUMP00000023370;protein kinase with no lysine 3;serine/threonine-protein kinase WNK3 APPROVED protein-coding ENSG00000196632 14543 02289 300358 REVIEWED 1606810 WIPI2 WD repeat domain, phosphoinositide interacting 2 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008] 7 7 7 p22.1 5188959 5232605 + 5196361 5240012 + 5229835 5273486 + 6480464 14702039;12853948;12477932;11230166;11076863;10810093;9847074;16169070;11256614;16381901;15602573;15489336;15489334;21145461;20505359;20562859;22939629;21564513;18029348;21963094;21139048;21906983;21044950;22505724 26100 Q9Y4P8 ABBA01039444;AC093376;AF151808;AI074985;AK023041;AK024279;AK124974;AK125007;AK315468;AL080155;AMYH01016995;AY691425;AY691426;BC004116;BC007596;BC016912;BC021012;BC021068;BC021200;BI561383;BX537624;CH471144;CR533530;NM_001033518;NM_001033519;NM_001033520;NM_001278299;NM_015610;NM_016003 AAD34045;AAH04116;AAH07596;AAH21200;AAQ96865;AAQ96866;AAQ96867;AAV80761;AAV80762;BAC86012;BAG51152;BAG51284;CAB45746;CAG38561;CAH56163;CAL37779;CAL38494;CAL38504;EAW87324;EAW87325;EAW87326;EAW87327;EAW87328;NP_001028690;NP_001028691;NP_001028692;NP_001265228;NP_056425;NP_057087;Q9Y4P8 Hs.122363 1687614;1775535;1777358;2128234;2145270;2181624 A003P36;RH12207;RH45406;RH93080;WI-17069;WI-20761 ATG18B;Atg21;CGI-50;DKFZp434J154;DKFZp686P02188;FLJ12979;FLJ14217;FLJ42984;WIPI-2 OTTHUMP00000149993;OTTHUMP00000200571;OTTHUMP00000200572;OTTHUMP00000200587;OTTHUMP00000225005;WD repeat domain phosphoinositide-interacting protein 2;WD40 repeat protein interacting with phosphoinositides 2;WIPI49-like protein 2 APPROVED protein-coding ENSG00000157954 32225 15679 609225 VALIDATED 1607009 WIZ widely interspaced zinc finger motifs 19 19 19 p13.1 15427962 15457580 - 15393318 15421762 - 15532318 15560762 - 6480464 16702210;14702039;12477932;12226707;9795207;9790763;19505873;21098080;20562864;22939629;23022380;17967884;21139048;21549307;21693764;21890473;21900206;21963094;21987572;22505724 58525 B7ZM82;M0QXA7;M0QXF8;M0QY21;M0R0A4;Q9BUR8 ABBA01051112;ABBA01051113;ABBA01051114;AC006128;AC007059;AC011492;AK027615;AK091183;AK122890;AK131404;AL390184;AMYH01009552;AMYH01009553;BC002329;BC007551;BC014220;BC048293;BC062360;BC098445;BC136641;BC144332;CH471106;NM_021241 AAC97985;AAD19817;AAD19818;AAH02329;AAH07551;AAH62360;AAH98445;AAI36642;AAI44333;BAB55234;BAD18551;BAG52301;BAG53783;CAB99102;EAW84480;NP_067064;O95785 Hs.442138 1669456;1753805;1768243;1791286;2121205 MARC_9986-9987:996688740:1;SHGC-108020;SHGC-35181;STS-Z41441;WI-19262 ZNF803 WIZ zinc finger;protein Wiz;widely-interspaced zinc finger motifs;widely-interspaced zinc finger-containing protein;zinc finger protein 803 protein-coding 30917 VALIDATED 1353270 WNK4 WNK lysine deficient protein kinase 4 This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009] 17 17 q21-q22 38186222 38202610 + 40932649 40949084 + 1580828;1580830;629611;2298790;6480464 11498583;15110905;12642508;18547946 19340547;19330605;18755144;18703016;18312414;18096992;17634397;17360471;17018846;16820787;16688122;16403833;15824464;15309683;15292344;15070779;14967840;14769928;14702039;14616768;12905707;12719438;12515852;11571656;8889548;14563843;12107410;12477932;15930150;16147992;18793746;19016006;19401467;19706464;19875813;20513278;20525693;20561597;20931534;21187068;21118716;20943203;21236712;21613417;20618440;21196779;21807898;23387299;21704025;22318606;23576762;22939624;23054253;23453970;22073419 65266 B0LPI0;K7ENT7;K7EPB3;Q96J92 ABBA01006407;ABBA01006408;AC016889;AC100793;AF390018;AJ309861;AJ316534;AK096003;AK096052;AK301963;AMYH01008398;BC136664;BC144356;BM683764;CA388932;CH471152;EU332870;NG_016227;NM_032387 AAI36665;AAK91995;ABY87559;BAC04669;BAC04688;BAG63376;CAC32991;CAC48387;EAW60881;EAW60882;NP_115763;Q96J92 Hs.105448 1685133;1733374;2147379;2169565;2171562;5015621;5022200;5022651 D11S2921;D11S3732;D17S1186;D7S2800;L18426;RH45445;RH47257;RH66580 PHA2B;PRKWNK4 protein kinase lysine-deficient 4;protein kinase with no lysine 4;serine/threonine-protein kinase WNK4 APPROVED protein-coding ENSG00000126562 14544 03505 601844;614491 REVIEWED 1349205 WNK2 WNK lysine deficient protein kinase 2 The protein encoded by this gene is a cytoplasmic serine-threonine kinase that contains cysteine in place of the lysine found at the conserved ATP-binding location in subdomain II of protein kinases. Since this protein does have kinase activity, it is possible that another lysine in the kinase subdomain I can substitute for the missing conserved lysine. [provided by RefSeq, Jul 2008] 9 9 9 q22.3 66388916 66525074 + 94987033 95122675 + 95947212 96082854 + 6480464 17667937;17578925;16713569;15489334;14702039;12477932;11571656;11498583;11280764;11214970;9610721;17474147;18593598;19001526;19724895;19851296;20198315;20379614;20936779;21733846;18768590;20525693 65268 A6PVV2;A8MQ23;C9JGD6;E9PCD1;F8W7S2;F8W9F9;H0Y493;H0Y7J9;H0Y7R3;H0Y7T5;Q9Y3S1 AB044546;AB051547;ABBA01018604;ABBA01018605;ABBA01018606;ABBA01018607;AF039702;AJ242724;AK000694;AK093910;AK096968;AK124314;AK310390;AL354991;AL390760;AL583839;AMYH01021512;AMYH01021513;BC037965;CH471089;NM_006648 AAC18051;AAH37965;BAB18648;BAB21851;CAB44308;EAW62857;EAW62858;EAW62859;EAW62860;NP_006639;Q9Y3S1 Hs.654856 1334625;1643634;1693692;1768531;2116753;2169832 D9S1803;IB543;RH66306;SGC30759;SHGC-58613;WI-15809 KIAA1760;NY-CO-43;P/OKcl.13;PRKWNK2;SDCCAG43 OTTHUMP00000196927;OTTHUMP00000196928;OTTHUMP00000196929;antigen NY-CO-43;mitogen-activated protein kinase kinase kinase;protein kinase lysine-deficient 2;protein kinase with no lysine 2;protein kinase, lysine deficient 2;serine/threonine-protein kinase WNK2;serologically defined colon cancer antigen 43 APPROVED protein-coding ENSG00000165238 14542 06951 606249 REVIEWED 1343905 WNK1 WNK lysine deficient protein kinase 1 This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010] 12 12 p13.3 732486 890879 + 862089 1020618 + 1580828;1580829;2298790;2298532;6480464;7240710 11498583;16301342;18547946;16376520 22701532;10660600;15350218;19363035;19361385;19347040;19244242;19228968;19068477;18955660;18809789;18591455;18550644;18521183;17957199;17456004;17392271;17380208;17190791;17081983;16964243;16949040;16832045;16820787;16669787;16428287;16403833;16263722;16204408;16172412;15883153;15686619;15583131;15489334;15324660;15203218;14681216;14645531;14611643;12477932;12374799;12168954;11571656;10869238;9205841;8889548;2507249;12748276;15561718;16006511;21242704;19913121;20628086;15060842;15455397;15911806;16344560;16534117;16541075;16713569;19609280;19651702;19739668;20379614;20410525;4351257;8889549;20936779;20937822;21089229;21220314;21317537;21355052;22989884;21530900;22863883;19389623;21520334;17289029;21625937;19850743;22080857;22678362;20525693;22119528;21139048;21704025;22623531;22073419;23383273;23387299;23576762;21988832;23444366;23059770 65125 A5D8Z4;F5GWT4;F5H2M7;F6UYG0;H0YF81;H0YFF1;H0YFK5;H0YFP5;H0YH68;H0YH79;I3L251;Q6IFS5 AB002342;ABBA01048835;ABBA01048836;ABBA01048837;ABBA01048838;ABBA01048839;ABBA01048840;AC004765;AC004803;AF061944;AI074334;AJ296290;AMYH01004168;AY231477;BC013629;BC021121;BC035146;BC044600;BC071959;BC094862;BC130467;BC130469;BC141881;BJ997509;BK004108;BM716053;BX644268;CD629562;CH471116;DA720959;FJ515833;JQ358908;N57692;NG_007984;NM_001184985;NM_014823;NM_018979;NM_213655 AAF31483;AAH13629;AAI30468;AAI30470;AAI41882;AAI72444;AAO46160;ACS13726;AEY99342;BAA20802;CAC15059;DAA04494;EAW88951;EAW88952;EAW88953;EAW88954;EAW88955;EAW88956;EAW88957;EAW88958;NP_001171914;NP_055638;NP_061852;NP_998820;Q9H4A3 Hs.744906 1341180;1341742;1643606;1651271;1651479;1667304;1671583;1676172;1683088;1693852;1733576;1778107;1782782;2116115;2116479;2117005;2123754;2153659;2156270;2166025;2167289;2167698;2168907;5093752;5493591;5493849;7185239 A009W04;AFM206ze5;D12S1397;D12S1913;D12S2148;D12S888;D12S91;D12S94;G32902;G41015;G41016;G41230;G41780;G41789;G42615;RH11028;RH68501;RH78846;RH80475;SGC33532;SGC34797;SHGC-36515;SHGC-70148;STS-N22269;UniSTS:487339;UniSTS:495281 HSAN2;HSN2;KDP;KIAA0344;MGC163339;MGC163341;PHA2C;PRKWNK1;PSK;p65 OTTHUMP00000115370;OTTHUMP00000237889;WNK lysine deficient protein kinase 1 isoform;erythrocyte 65 kDa protein;prostate-derived sterile 20-like kinase;protein kinase lysine-deficient 1;protein kinase with no lysine 1;protein kinase, lysine deficient 1;serine/threonine-protein kinase WNK1 APPROVED protein-coding ENSG00000060237 14540 05570 201300;605232;614492 REVIEWED 1344355 WNT1 wingless-type MMTV integration site family, member 1 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008] 12 12 q13 47658503 47662746 + 49372236 49376396 + 1580863;2313743;2298848;2298804;2298863;2301993;6480464;6907045 18765832;9419423;10918574;8065359 21321190;15592430;2202907;10644691;19453261;19401692;19349579;19148501;19061838;18936100;18844223;18838960;18824543;18790633;18769117;18769115;18705344;18676739;18636547;18593917;18469861;18461473;18297060;18218837;18097596;18059186;18056036;17947472;17875805;17306035;17289346;17143299;17072303;17035233;16930536;16760136;16756720;16565090;16501043;16495219;16474850;16427602;15913453;15841445;15824740;15580286;15489334;15454084;15194563;15149841;14960582;14644163;12477932;12209999;12154096;12014624;11832495;11782388;11448771;11350055;11336703;11029007;10866835;10654605;10557084;10511339;10347172;9147651;3329717;3281802;22318606;22406377;22494971;2998762;2534596;16329837;17982423;19398721;19448422;19473496;19628668;19711366;19729480;19734317;19756656;19778454;19781444;19885602;19924227;19956716;19956832;22139084;20334650;20491588;20664938;19174556;20564229;19847889;11793365;22823957;22859293;19693690;21044957;22815884;21317455;23152495;20809334;21344486;21336184;21971039;20865400;21505183;21680704;21851818;22391424;23656646;21858154;21781302;21678109;22123293;16194878;18562274;22117039;22270359;22351518;22392999;21259057;22388478;23499309;23499310;22954590;22696217;18762249;23284750;23134367 7471 P04628 ABBA01031498;AC073610;AMYH01004436;BC074798;BC074799;BT019429;CH471111;CQ970104;NG_033141;NM_005430;X03072 AAH74798;AAH74799;AAV38236;CAA26874;CAI38639;EAW58030;NP_005421;P04628 Hs.248164 5492096 Wnt1 BMND16;INT1;OI15 OTTHUMP00000243705;proto-oncogene Int-1 homolog;proto-oncogene Wnt-1;wingless-type MMTV integration site family, member 1 (oncogene INT1) APPROVED protein-coding 12774 01276 164820;615220;615221 REVIEWED 1605334 WLS wntless homolog (Drosophila) 1 1 1 p31.3 66854843 66988904 - 68336739 68470841 - 68564142 68698284 - 6480464 16710414;16678095;16303743;15489334;14702039;12975309;12761501;12477932;22837378;19801982;20200978;20214800;20548944;20652957;17804805;16344560;18781797;21987572;22147553;21906983;22027831;21890473;21963094;22504420;23000965 79971 E9PJW4;E9PKJ0;E9PM23;E9PM62;E9PQK1;F5H4K0;H0YCG9;H0YDL2;Q5T9L3;Q7Z430 AB097018;ABBA01074511;AI217373;AK026744;AK074583;AK074984;AK301613;AK309779;AL157407;AL513284;AMYH01000692;AW137622;AY359035;BC007211;BC110826;BC137109;BC137113;BG701224;BX537492;BX538320;BX648748;CA438784;CH471059;CQ782961;DA753300;DB478499;DQ323735;NM_001002292;NM_001193334;NM_024911 AAH07211;AAI10827;AAI37110;AAI37114;AAQ89394;ABD58927;BAB15540;BAC11072;BAC11333;BAC77371;BAH13523;CAD98094;CAF86190;EAX06479;EAX06480;EAX06481;NP_001002292;NP_001180263;NP_079187;Q5T9L3 Hs.647659 1649182;1652881;1688761;1718147;1722449;2133696;2146116;2146991;2146993;2148825;2181494;2185904 A004O04;A006C26;A006M39;D1S1583;G09848;G20702;G60301;HSC2OB072;RH122841;RH64518;RH68355;RH92980 C1orf139;DKFZp686I0788;EVI;FLJ23091;GPR177;MGC131760;MGC14878;MRP;mig-14 G protein-coupled receptor 177;OTTHUMP00000010725;OTTHUMP00000010726;OTTHUMP00000010727;integral membrane protein GPR177;protein evenness interrupted homolog;protein wntless homolog;putative NF-kappa-B-activating protein 373;putative NFkB activating protein 373 APPROVED protein-coding ENSG00000116729 30238 10980 611514 VALIDATED 1315958 WNT10A wingless-type MMTV integration site family, member 10A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008] 2 2 q35 219453499 219466895 + 219745255 219758651 + 1580863;2313743;2300202;2300201;2301993;6480464;6907045;7240710 18765832;15789446;17286598 19559398;19453261;18787224;17847007;16953426;15489334;14702039;12477932;11350055;15040835;19471313;19863181;19896111;20585627;21143469;21203463;21279306;21547848;20979233;23094073;23358095;23135473;22581971 80326 H7BZB8;Q9GZT5 AB059569;ABBA01023855;ABBA01023856;AC073128;AF315943;AK024363;AK315081;AMYH01011498;AMYH01011499;AY009400;BC003544;BC034352;BC040026;BC052234;CH471063;CQ970134;NG_012179;NM_025216 AAG38660;AAG45153;AAH03544;AAH34352;AAH52234;AAY24175;ACE86419;BAB14898;BAB55602;BAG37548;CAI38654;EAW70659;NP_079492;Q9GZT5 Hs.121540 1337443 D2S2250 FLJ14301;OODD;SSPS;STHAG4 OTTHUMP00000164103;protein Wnt-10a APPROVED protein-coding ENSG00000135925 13829 16207 150400;224750;257980;606268 REVIEWED 1312744 WNT10B wingless-type MMTV integration site family, member 10B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008] 12 12 q13 47645390 47651810 - 49359123 49365641 - 1580863;2313743;2300029;2301993;2326237;6480464;6907045;7240710 18765832;16477437;17578883 21554266;9121776;21321991;19453261;19075223;19056892;19016593;18515319;18465804;17761539;15489334;12477932;12437293;11713588;11350055;10937998;9441749;9284937;8167409;15135146;19458884;9787155;16344560;19913121;20579865;20628086;20628624;20635353;22118674;22189080;22041457;23307470;23135473 7480 B5MCC8;C9J3H3;C9JCI2;O00744;Q4VAJ4 AB070724;ABBA01031497;AC073610;AF028700;AK312906;AMYH01004436;BC096353;BC096354;BC096355;BC096356;CH471111;CQ970136;DA530656;NG_023347;NM_003394;U81787;X97057 AAB51685;AAC39549;AAH96353;AAH96354;AAH96355;AAH96356;BAB72181;BAG35752;CAA65769;CAI38655;EAW58028;EAW58029;NP_003385;O00744 Hs.91985 1680178;1847041;2107773;5093228;5492108 A009J45;G32596;RH91791;WNT10B_7903;Wnt10b SHFM6;WNT-12 OTTHUMP00000198403;OTTHUMP00000198404;OTTHUMP00000198405;WNT-10B protein;protein Wnt-10b APPROVED protein-coding ENSG00000169884 12775 03548 225300;601906 REVIEWED 1345805 WNT16 wingless-type MMTV integration site family, member 16 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008] 7 7 q31 120752657 120768394 + 120965421 120981158 + 1580863;2313743;2301993;6480464;6907045 18765832 10500199;19101069;16769578;16007226;15756456;15489334;12853948;12477932;11095990;8167409;16808837;22792070;22792071;16258938;17200136;19863181;19951988;16147992;22504420;22863786 51384 E9PH60;Q9UBV4 AACC02000001;ABBA01057760;AC006364;AF152584;AF169963;AMYH01017897;BC104919;BC104945;CH236947;CH471070;CQ970140;EU190890;NG_029242;NM_016087;NM_057168 AAD38052;AAD49351;AAI04920;AAI04946;AAQ96872;ABW69190;CAI38657;EAL24346;EAL24347;EAW83556;EAW83557;NP_057171;NP_476509;Q9UBV4 Hs.272375 1342295;1708546;2109001;7183812;7185613 D7S480;SHGC-85052;WNT16_8043 OTTHUMP00000211164;OTTHUMP00000211165;protein Wnt-16;wingless-type MMTV integration site family member 16b APPROVED protein-coding ENSG00000002745 16267 05882 606267 REVIEWED 733303 WNT2B wingless-type MMTV integration site family, member 2B This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as human carcinogenesis. This gene produces two alternatively spliced transcript variants. [provided by RefSeq, Aug 2008] 1 1 p13 112811563 112865428 + 113010040 113063910 + 1580863;2313743;2298800;634517;2301993;6480464;6907045 18765832;16822086;12072409 8761309;18606951;16407296;16273293;15754012;14702039;12477932;11712082;10944466;9441749;8167409;11746496;22635028;11741304;15135146;17649721;19360354;19650845;15164427;16258938;17848411;9787155;20819778;20844743;19913121;20628086;22145905 7482 Q5TEH8;Q5TEH9;Q93097 AB045116;AB045117;ABBA01068406;ABBA01068407;ABBA01068408;ABBA01068409;AF028701;AK127449;AK307185;AK312696;AL109932;AL354760;AMYH01000949;BC141825;CH471122;CQ970108;NM_004185;NM_024494 AAC39552;AAI41826;BAB11984;BAB11985;BAG35575;CAI38641;EAW56519;NP_004176;NP_078613;Q93097 Hs.258575 1341643;1663983;1679557;1698406;2137267;2180475;2218146;5094080 D1S2746;G34961;RH102745;RH67266;SHGC-75324;SHGC-75329;SHGC-75345;WNT2B_3889 WNT13;XWNT2 OTTHUMP00000012856;OTTHUMP00000012857;OTTHUMP00000012858;XWNT2, Xenopus, homolog of;protein Wnt-2b;wingless-type MMTV integration site family, member 13 APPROVED protein-coding ENSG00000134245 12781 03574 601968 REVIEWED 6481355 WNT5A-AS1 WNT5A antisense RNA 1 100874008 AC121764 APPROVED miscrna 40616 1344477 WNT11 wingless-type MMTV integration site family, member 11 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008] 11 11 q13.5 75575018 75595222 - 75897370 75917574 - 1580863;2299946;2313743;1304321;2299947;634517;2301993;6480464;6907045 15520198;18765832;15084607;11712081;12072409 9757009;19265664;18572162;18413325;17967789;16303743;15708567;15701629;15489334;12477932;8167409;15543138;19453261;20062060;20103596;20219091;20379614;21280163;19847889;20819778;20890934;20870744;21242973;21903761;21139048;22161723 7481 E9PJL6;O96014 AB070218;ABBA01017454;AK075540;AK313570;AMYH01003821;AP000785;BC074790;BC074791;BC113386;BC113388;BT019492;CH471076;CQ970138;JF800675;JQ715612;NM_004626;Y12692;Y13843 AAH74790;AAH74791;AAI13387;AAI13389;AAV38299;AEG64815;AGA11741;BAB72099;BAC11683;BAG36343;CAA73223;CAA74159;CAI38656;EAW74988;EAW74989;NP_004617;O96014 Hs.108219 1854321;2161767;2162575;2218144;5096714 D11S2457;SGC44542;SHGC-36303;STS-W81325;WNT11_3888 HWNT11;MGC141946;MGC141948 OTTHUMP00000229154;protein Wnt-11 APPROVED protein-coding ENSG00000085741 12776 04741 603699 REVIEWED 736431 WNT2 wingless-type MMTV integration site family member 2 This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] 7 7 q31.2 116704518 116750579 - 116916685 116963343 - 1580863;2291875;2291878;2291879;2313743;2291877;2298863;2298848;2301993;2291874;727214;2326231;6480464;6907045 9099960;8168088;7903963;18765832;8064891;8065359;9419423;15736421;14517837;14625142 10557084;2971536;19666519;19421142;19239325;19058789;19038973;18949017;18703315;18184402;17534895;17386109;16407829;16132582;15900580;15896469;15878915;15489334;15048648;14702039;14533014;12853948;12690205;12477932;12147710;12138115;12063568;11840514;11712082;11449391;11290296;10347172;8167409;1846319;15507471;17948129;18600204;19444628;19734317;19857041;19895723;20492734;15040835;16258938;22949635;19913121;20628086;20628624;21474991;21575668;22041457;22763454;21732829;22318606;22522212;22872573;22489561 7472 A4D0V1;C9JUI2;F8WDR1;P09544 AACC02000001;ABBA01057800;ABBA01057801;AC002465;AC006326;AK056742;AMYH01017886;BC029854;BC078170;BT019608;CH236947;CH471070;CQ970106;NM_003391;NR_024047;X07876 AAB67043;AAD28351;AAH29854;AAH78170;AAV38415;ABM83383;ABM86595;BAG51800;CAA30725;CAI38640;EAL24355;EAW83525;NP_003382;P09544 Hs.567356 1711868;1729423;1777211;1797036;1798864;1799208;1800082;1801310;1805836;1805838;1806052;1807266;1807414;1808152;1808224;1809610;1809676;1810600;1811854;1812558;1813940;1814410;1815134;1816742;1816970;1817056;1817788;1818142;1818478;1820830;1821308;1822352;1823040;1823042;1823176;1824072;1824702;1825498;1825648;1825974;1828304;1828306;1828952;1831968;1833354;1834772;1836220;1837494;1838088;1838134;1839446;1839706;1839764;1839840;1841248;1841310;1841914;1842178;1842552;1844430;1845640;1845934;1858554;1986076;1986078;1986080;1986082;1986084;1986086;1986088;1986090;1986092;1986094;1986096;1986098;1986100;1986102;1986104;1986106;1986108;1986110;1986112;1986114;1986116;1986118;1986120;1986122;1986124;1986126;1986128;1986130;1986132;1986134;1986136;1986138;1986140;1986142;1986144;1986146;1986148;1986150;1986152;1986154;1986156;1986158;1986160;1986162;1986164;1986166;1986168;1986170;1986172;1986174;1986176;1986178;1986180;1986182;1986184;1986186;1986188;1986190;1986192;1986194;1986196;1986198;1986200;1986202;1986204;1986206;1986208;1986210;1986212;1986214;1986216;1986218;1986220;1986222;1986224;1986226;1986228;1986230;1986232;1986234;1986236;1986238;1986240;1986242;1986244;1986246;1986248;1986250;1986252;1986254;1986256;1986258;1986260;1986262;1986264;1986266;1986268;1986270;1986272;1986274;1986276;1986278;1986280;1986282;1986284;1986286;1986288;1986290;1986292;1986294;1986296;1986298;1986300;1986302;1986304;1986306;1986308;1986310;1986312;1986314;1986316;1986318;1986320;1986322;1986324;1986326;1986328;1986330;1986332;1986334;1986336;1986338;1986340;1986342;1986344;1986346;1986348;1986350;1986352;1986354;1986356;1986358;1986360;1986362;1986364;1986366;1986368;1986370;1986372;1986374;1986376;1986378;1986380;1986382;1986384;1986386;1986388;1986390;1986392;1986394;1986396;1986398;1986400;1986402;1986404;1986406;1986408;1986410;1986412;1986414;1986416;1986418;1986420;1986422;1986424;1986426;1986428;1986430;1986432;1986434;1986436;1986438;1986440;1986442;1986444;1986446;1986448;2094324;2094326;2094328;2094330;2094332;2094334;2094336;2094338;2094340;2094342;2094344;2094346;2094348;2094350;2094352;2094354;2094356;2094358;2094360;2094362;2094364;2094366;2094368;2094370;2094372;2094374;2094376;2094378;2094380;2094382;2094384;2094386;2094388;2094390;2094392;2094394;2094396;2094398;2094400;2094402;2094404;2143845;7184040;7184472;7184608;7184621;7184623 D7S23;D7S2769;ECD00272;ECD00452;ECD00896;ECD01527;ECD03869;ECD03870;ECD03979;ECD04601;ECD04678;ECD05057;ECD05093;ECD05797;ECD05830;ECD06293;ECD06931;ECD07289;ECD07997;ECD08234;ECD08601;ECD09415;ECD09534;ECD09577;ECD09948;ECD10127;ECD10300;ECD11491;ECD11734;ECD12264;ECD12608;ECD12609;ECD12676;ECD13132;ECD13449;ECD13857;ECD13932;ECD14096;ECD15277;ECD15278;ECD15603;ECD17122;ECD17820;ECD18534;ECD19271;ECD19914;ECD20215;ECD20239;ECD20905;ECD21036;ECD21065;ECD21103;ECD21820;ECD21851;ECD22159;ECD22292;ECD22483;ECD23429;ECD24038;ECD24187;G49397;REN63940;REN63941;REN63942;REN63943;REN63944;REN63945;REN63946;REN63947;REN63948;REN63949;REN63950;REN63951;REN63952;REN63953;REN63954;REN63955;REN63956;REN63957;REN63958;REN63959;REN63960;REN63961;REN63962;REN63963;REN63964;REN63965;REN63966;REN63967;REN63968;REN63969;REN63970;REN63971;REN63972;REN63973;REN63974;REN63975;REN63976;REN63977;REN63978;REN63979;REN63980;REN63981;REN63982;REN63983;REN63984;REN63985;REN63986;REN63987;REN63988;REN63989;REN63990;REN63991;REN63992;REN63993;REN63994;REN63995;REN63996;REN63997;REN63998;REN63999;REN64000;REN64001;REN64002;REN64003;REN64004;REN64005;REN64006;REN64007;REN64008;REN64009;REN64010;REN64011;REN64012;REN64013;REN64014;REN64015;REN64016;REN64017;REN64018;REN64019;REN64020;REN64021;REN64022;REN64023;REN64024;REN64025;REN64026;REN64027;REN64028;REN64029;REN64030;REN64031;REN64032;REN64033;REN64034;REN64035;REN64036;REN64037;REN64038;REN64039;REN64040;REN64041;REN64042;REN64043;REN64044;REN64045;REN64046;REN64047;REN64048;REN64049;REN64050;REN64051;REN64052;REN64053;REN64054;REN64055;REN64056;REN64057;REN64058;REN64059;REN64060;REN64061;REN64062;REN64063;REN64064;REN64065;REN64066;REN64067;REN64068;REN64069;REN64070;REN64071;REN64072;REN64073;REN64074;REN64075;REN64076;REN64077;REN64078;REN64079;REN64080;REN64081;REN64082;REN64083;REN64084;REN64085;REN64086;REN64087;REN64088;REN64089;REN64090;REN64091;REN64092;REN64093;REN64094;REN64095;REN64096;REN64097;REN64098;REN64099;REN64100;REN64101;REN64102;REN64103;REN64104;REN64105;REN64106;REN64107;REN64108;REN64109;REN64110;REN64111;REN64112;REN64113;REN64114;REN64115;REN64116;REN64117;REN64118;REN64119;REN64120;REN64121;REN64122;REN64123;REN64124;REN64125;REN64126;RH17465;STS-X07876;WNT2_738;stSG598541;stSG598542;stSG598543;stSG598544;stSG598545;stSG598546;stSG598547;stSG598548;stSG598549;stSG598550;stSG598551;stSG598552;stSG598553;stSG598554;stSG598555;stSG598556;stSG598557;stSG598558;stSG598559;stSG598560;stSG598561;stSG598562;stSG598563;stSG598564;stSG598565;stSG598566;stSG598567;stSG598568;stSG598569;stSG598570;stSG598571;stSG598572;stSG598573;stSG598574;stSG598575;stSG598576;stSG598577;stSG598578;stSG598579;stSG598580;stSG598581 INT1L1;IRP Int-1-related protein;OTTHUMP00000025046;int-1-like protein 1;protein Wnt-2;secreted growth factor;wingless-related mmtv integration site 2 APPROVED protein-coding ENSG00000105989 12780 00999 147870 REVIEWED 733867 WNT4 wingless-type MMTV integration site family, member 4 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008] 1 1 p36.23-p35.1 22316385 22342106 - 22443798 22469519 - 1599857;1580863;2291878;2313743;2291875;2301993;727218;6480464;6907045;7240710 15317892;8168088;18765832;9099960;12707392 19453261;19421142;19171330;19034702;18553255;18281035;18182450;18179883;18001722;17720811;16981135;16710414;16442268;16343436;15589122;15489334;15389636;15312687;15265686;15149334;12975309;12949260;12841867;12768078;12477932;12142017;11287180;11283799;10866835;9989404;9853965;8167409;2279700;22503279;10654605;12844346;15040835;16368682;16959810;17848411;17976063;20060343;20502698;20601957;20634891;20161747;19849868;19863181;19962424;21280163;23520208;20709709;21377155;21832049;23142810;21624127;15717329;23142796;23463699;22041457;21732829;21988832;22504420;23104006;23251661;23044875;22951804;23472165 54361 B1AJZ6;B4DJF9;H0Y663;P56705 AA984007;AB061675;ABBA01059842;AF086347;AF316543;AF335591;AK296058;AL031281;AL445253;AMYH01000347;AY009398;AY358947;BC007386;BC057781;BT020125;CH471134;CQ970114;NG_008974;NM_030761 AAG38658;AAH57781;AAK25765;AAK51699;AAQ89306;AAV38928;ADZ15971;BAC23080;BAG58821;CAI38644;EAW95010;NP_110388;P56705 Hs.25766 1656665;1661159;1733026;1752503;1798318 D1S1386;SHGC-106323;SHGC-74348;SHGC-74353;WNT4_1928 SERKAL;WNT-4 OTTHUMP00000002937;WNT-4 protein;protein Wnt-4 APPROVED protein-coding 12783 04601 158330;603490;611812 REVIEWED 1344120 WNT3 wingless-type MMTV integration site family, member 3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008] 17 17 q21 42196855 42251081 - 44841686 44896082 - 1599852;1580863;2313743;2298804;2298802;2298848;2291875;2301993;6480464;6907045;7240710 14872406;18765832;10918574;11604997;9419423;9099960 15588944;19421142;19365403;18787224;18606139;18563180;18413325;18313787;18309246;18044981;16890161;15489334;15293277;12477932;11788904;11076863;10557084;10431240;8244403;8167409;1846319;22288914;22318606;19724895;19851296;19863181;20190752;20198315;8168088;20890934;20672350;20301453;20709709;21314951;21789800;22112025;22070884;21812969;22451204 7473 P56703 AB067628;ABBA01041103;ABBA01041104;ABBA01041105;AC004098;AC019319;AC217780;AMYH01008444;AY009397;BC112116;BC112118;BC114219;BF515681;CH471231;CQ970110;CX872929;DB462855;NG_008084;NM_030753 AAG38657;AAI11601;AAI12117;AAI12119;AAI14220;BAB70502;CAI38642;EAW57705;NP_110380;P56703 Hs.445884;Hs.745220 1338925;1649433;1729859;1742305;1770487;2185256;2218148;5021951;7185579 D17S728;D17S791;G17967;G17970;GDB:196138;WI-10450;WNT3_2862;Wnt3 INT4;MGC131950;MGC138321;MGC138323 WNT-3 proto-oncogene protein;proto-oncogene Int-4 homolog;proto-oncogene Wnt-3 APPROVED protein-coding 12782 01318 165330;273395 REVIEWED 1353257 WNT5A wingless-type MMTV integration site family, member 5A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] 3 3 p21-p14 55474783 55496371 - 55499743 55521670 - 1580863;2313743;634517;2291875;2301993;6480464;6484113;6907045 18765832;12072409;9099960 8288227;10491302;9054360;19582886;19453261;19399181;19244247;19177143;19171330;19148501;19074888;19063862;19061910;19048125;18990694;18794093;18703641;18656562;18632632;18615587;18541964;18477650;18462958;18456733;18420933;18413325;18174455;18174174;18172252;18032022;17992121;17986384;17967789;17937436;17709179;17546602;17525119;17486081;17463182;17458904;17426020;17227781;17035633;16996564;16914445;16880514;16344560;16169547;15735754;15592517;15389636;15067324;14702039;12841867;12805222;12482967;12477932;12244165;12165812;12086864;11956659;10557084;8889548;8537388;8167409;16601243;16569699;22609948;22655072;20454608;20628624;20634891;20429785;20554957;21672426;12839624;12952940;15040835;17952396;17956663;18287027;19099253;19251946;19467340;19473452;19492056;19520808;19561643;19651774;19696445;19760930;19802008;19849855;19874313;19878652;19910923;19918918;19940551;19946729;19956879;20008136;20032469;20083703;20101234;20379614;20525402;20376066;15588944;16258938;17848411;17976063;19847889;9787155;20890934;21115903;19277043;20518933;20639201;21587258;20603606;20955350;21069266;21205070;21342370;21165581;21431850;23046419;23001722;23054609;21209903;21270611;21461571;21344486;21365928;23349696;23178630;21352264;21918189;21816908;21871017;21285942;22124122;21980498;22547701;23075330;22039506;22128168;22384081;22384249;22162112;22485170;23266365;22293903;22493546;22101459;23469623;23417837;21963094;22781592;22825874;23159080;23396967;22694338;23254341 7474 B3KQX9;C9J8I8;P41221 ABBA01024455;ABBA01024456;AC121764;AI634753;AK021503;AK090582;AK290375;AK290869;AMYH01013202;AU118341;BC064694;BC074783;BF218039;BM728706;BU742635;CH471055;CQ970116;DB224740;EF028086;GN095169;GN368162;L20861;NG_031992;NM_001256105;NM_003392;U39837 AAA16842;AAH64694;AAH74783;ABK20872;ADZ15627;BAF83064;BAF83558;BAG52191;CAI38645;CAY02596;CAY86018;EAW65310;EAW65311;NP_001243034;NP_003383;P41221 Hs.643085 1647090;1648540;1689558;1697050;2178128;5120879;5494065 G15856;G35315;RH102004;RH78427;RH80790;SHGC-77018;Wnt5a hWNT5A OTTHUMP00000212837;OTTHUMP00000212861;WNT-5A protein;protein Wnt-5a APPROVED protein-coding ENSG00000114251 12784 01293 164975;180700 REVIEWED 1346792 WNT5B wingless-type MMTV integration site family, member 5B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] 12 12 p13.3 1596483 1626639 + 1726222 1756378 + 1580863;2313743;2298863;2298848;2298808;2301993;6480464;6907045 18765832;8065359;9419423;15972578 21766608;19453261;18555673;16189514;15489334;15386214;12477932;12165812;11445850;10866835;8167409;21980498;15135146;15731909;19486338;19577541;19863181;16258938 81029 F5GYM2;F5H034;F5H364;F5H7Q6;Q9H1J7 AB060966;AB209228;ABBA01048821;ABBA01048822;AC005182;AK290430;AMYH01004174;AY009399;BC001749;CH471116;CQ970118;NM_030775;NM_032642 AAG38659;AAH01749;ABM82782;ABM85971;BAB62039;BAD92465;BAF83119;CAI38646;EAW88925;EAW88926;EAW88927;NP_110402;NP_116031;Q9H1J7 Hs.306051 1848698;2218150 D12S2103;WNT5B_3683 MGC2648 OTTHUMP00000115433;OTTHUMP00000237811;OTTHUMP00000237812;OTTHUMP00000237813;WNT-5B protein;protein Wnt-5b APPROVED protein-coding ENSG00000111186 16265 05899 606361 REVIEWED 1312067 WNT6 wingless-type MMTV integration site family, member 6 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008] 2 2 2 q35 213494308 213508717 + 219432790 219447198 + 219724546 219738954 + 1580863;2313743;2298863;2298848;2298845;2301993;6480464;6907045 18765832;8065359;9419423;18649356 17847007;16953426;16303743;15489334;12477932;11350055;10866835;10343101;9407023;8167409;2279700;20634891;20113781;16258938;21547848;22370641 7475 Q8N2E5;Q9Y6F9 AB059570;ABBA01023856;AC009974;AC073128;AF079522;AF315943;AK075522;AMYH01011498;AY009401;BC004329;BT007456;CB960823;CH471063;CQ970120;NM_006522 AAD41674;AAG38661;AAG45154;AAH04329;AAP36124;AAY24174;ABM81696;BAB55603;BAC11668;CAI38647;EAW70658;NP_006513;Q9Y6F9 Hs.29764 2118391 RH70053 OTTHUMP00000164100;protein Wnt-6 APPROVED protein-coding ENSG00000115596 12785 05233 604663 REVIEWED 69159 WNT7A wingless-type MMTV integration site family, member 7A This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008] 3 3 p25 13835083 13896619 - 13860082 13921618 - 1601222;1580863;2313743;2298863;2298848;2301993;2298847;4107045;6480464;6907045;7240710 16164600;18765832;8065359;9419423;11232041;18567805 22232518;8893824;9161407;9790192;19171330;19159115;19054571;18606951;18538017;18413325;18230341;17588571;17201809;16835228;16826533;15802269;15705594;15082716;14550385;12937339;12893825;12857724;12477932;11784006;11070089;8168088;8167409;20470940;16169070;19453261;19849868;20083228;20219685;20379614;20503388;20845993;12843296;15040835;16258938;18986540;20501643;20949531;20709709;21271649;21344627;22294752;23321718;22403725;22177312;17202865;23144326;23056560 7476 O00755 ABBA01025165;ABBA01025166;ABBA01025167;AC090646;AMYH01012995;BC008811;CH471055;CQ970122;D83175;NG_008088;NM_004625;U53476 AAC51319;AAH08811;ABM83949;ABM87266;BAA82509;CAI38648;EAW64173;EAW64174;NP_004616;O00755 Hs.72290 1342243;2136903 D3S2385;SHGC-76734 OTTHUMP00000160234;protein Wnt-7a;proto-oncogene Wnt7a protein;wingless-related mmtv integration site 7a APPROVED protein-coding 12786 03341 228930;276820;601570 REVIEWED 1316953 WNT8B wingless-type MMTV integration site family, member 8B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008] 10 10 10 q24 95960656 95981247 + 102212802 102233389 + 102222812 102243399 + 1580863;2313743;2301993;6907045 18765832 8661156;9536085;17390031;15164054;15146197;11956596;11788899;8167409;16385451;7635061;20972907;23362303 7479 Q93098 AB073637;ABBA01063226;ABBA01063227;AL133352;AL359759;AMYH01003000;CH471066;CN276452;CQ970128;NM_003393;X91940;Y11094;Y11108 AAI56633;BAB83924;CAA63017;CAA71968;CAA71994;CAI38651;EAW49825;NP_003384;Q93098 Hs.421281 2218152 WNT8B_3887 OTTHUMP00000020285;protein Wnt-8b APPROVED protein-coding ENSG00000075290 12789 03235 601396 REVIEWED 1317606 WNT3A wingless-type MMTV integration site family, member 3A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008] 1 1 q42 226261375 226315584 + 228194723 228248972 + 1580863;2313743;2298863;2298848;2300202;2301993;2303791;6480464;6484113;6907045 18765832;8065359;9419423;15789446;19233274 22396540;19523451;19453261;19351711;19265664;19144919;18724388;18719101;18632632;18615587;18555765;18505824;18462958;18413325;18344425;18305214;18242164;17990294;17888180;17822920;17698587;17595165;17546602;17544413;17458904;17211448;17137849;16799642;16710414;16621789;16565323;16227623;15489334;15454084;14739301;14722104;14702039;12897152;12805222;12629517;12556519;12477932;12067714;12052822;11836627;11788904;11414706;10866835;10557084;8168088;8167409;20634891;20723538;20735988;10654605;16890161;17976063;19101069;20347274;20932509;19072540;22876125;20693288;19736317;19816934;19881541;19887570;19901330;20085589;20093360;20227366;21422228;16344560;20336604;21123170;21536751;21606194;22941468;22824791;21667018;21957254;21600099;21670201;22005028;22110662;23204070;19910923;22550094;22705156;23276938;23382209;22714865;23396967;23396968;22789636;18941195;23559372;23168335 89780 P56704 AB060284;ABBA01005826;ABBA01005827;ABBA01005828;AK056278;AL136379;AMYH01001788;AMYH01001789;BC103921;BC103922;BC103923;CA437424;CH471098;CQ970112;DA742143;NM_033131 AAI03922;AAI03923;AAI03924;BAB61052;BAB71136;CAI38643;EAW69829;NP_149122;P56704 Hs.336930 1667610;1720119 D1S1601;RH123801 MGC119418;MGC119419;MGC119420 OTTHUMP00000035713;protein Wnt-3a APPROVED protein-coding ENSG00000154342 15983 05897 606359 REVIEWED 1314861 WNT8A wingless-type MMTV integration site family, member 8A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. It encodes a protein which shows 81% amino acid identity to the mouse Wnt8A protein. [provided by RefSeq, Jul 2008] 5 5 5 q31 133541722 133549145 + 137447673 137455098 + 137419774 137427199 + 1580863;2313743;2301993;6480464;6907045 18765832 18413325;11956596;11408932;8167409;22544366;22889411;12477932;20890934 7478 D6RF47;D6RF94;Q9H1J5 AB057725;ABBA01068697;ABBA01068698;AC113382;AMYH01015640;AY009402;BC144001;BC144497;CH471062;CQ970126;NM_058244 AAG38662;AAI56845;BAB60960;CAI38650;EAW62165;EAW62166;EAW62167;EAW62168;NP_490645;Q9H1J5 Hs.591274 WNT8D OTTHUMP00000180556;OTTHUMP00000210921;OTTHUMP00000223361;OTTHUMP00000223458;WNT8d;protein Wnt-8a;protein Wnt-8d APPROVED protein-coding ENSG00000061492 12788 05898 606360 REVIEWED 6483967 WRBP1 tryptophan rich basic protein pseudogene 1 4 q25 113614594 113614947 - 11181995 256085 ABBA01063820;AC106864;AMYH01014470;CH471057;NG_006948 EAX06286 pseudo 44010 INFERRED 1319983 WNT9B wingless-type MMTV integration site family, member 9B The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008] 17 17 17 q21 41378455 41403922 + 42283967 42309436 + 44928968 44954437 + 1580863;2313743;2301993;6480464;6907045 18765832 9441749;19171330;18413325;12975309;22808956;12573259;12477932;11713592;11604992;8167409;20634891;20672350;20379614;20890934;16258938;16226712 7484 E7EPC3;I3L0L8;O14905 AB063483;ABBA01041105;AC015855;AF028703;AK127268;AK127615;AMYH01008444;AY358217;BC064534;CH471231;CQ970132;NG_029164;NM_003396 AAC39551;AAH64534;AAQ88584;BAB70499;BAC86908;BAC87058;CAI38653;EAW57702;EAW57703;NP_003387;O14905 Hs.326420 1734424;2116534;2218154;5014051;5015404;5016851;5024756;5037552 D17S1399E;D17S2024;D8S2278;D8S2279;L17705;RH80030;RH80031;WNT9B_3891 WNT14B;WNT15 protein Wnt-14b;protein Wnt-9b;wingless-type MMTV integration site family, member 15 APPROVED protein-coding ENSG00000158955 12779 04180 602864 REVIEWED 1353229 WS2A Waardenburg syndrome, type 2A 7240710 7951321 7487 12793 103470;103500;193510;614456 1322906 WNT7B wingless-type MMTV integration site family, member 7B This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008] 22 22 q13 44696316 44751395 - 46316246 46373008 - 1581694;1601222;1580863;2313743;2298699;2292645;2298863;2299932;2298848;2293491;2301993;2291878;6480464;6907045 15608632;16164600;18765832;15492823;18177422;8065359;9461004;9419423;15923619;8168088 16227623;15489334;14702039;12477932;11562755;10866835;9284940;8889548;8167409;19734317;19863181;12429992;15164427;16258938;22949635;12239632;20634891;17207965;21732829;21988832;22838404 7477 A8K0G1;B8A595;B8A597;B8A598;P56706 AB062766;ABBA01007141;AF416743;AK123019;AK289526;AMYH01012852;BC034923;BM047487;BX511035;CB853639;CH471138;CQ970124;CR536603;NM_058238 AAH34923;AAN32640;ACE86479;ACE87160;ADQ32118;BAB68399;BAF82215;CAI38649;EAW73394;NP_478679;P56706 Hs.512714 1701816;1740055;2106801;2180109;5015861;7185938 AL022549;D10S16;D22S1130;DXS7011E;UniSTS:465426 OTTHUMP00000206327;OTTHUMP00000206328;OTTHUMP00000206329;OTTHUMP00000206331;protein Wnt-7b APPROVED protein-coding ENSG00000188064 12787 03573 601967 REVIEWED 1318280 WRN Werner syndrome, RecQ helicase-like This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008] 8 8 p12 31010320 31150818 + 30890778 31031277 + 1580819;1580820;1580821;1580825;1580824;1599418;1580863;6480464;7240710 15246744;15916825;9021029;16673358;11186893;10220139 16728435;15149862;22547774;19554081;10783163;12181313;10373438;10871376;9288107;11433031;17715146;17563354;17611195;9681877;17115688;12882351;18203716;18212065;17498979;9618508;11420665;12944467;19573080;19502800;19282863;19262689;19205873;19116388;19077115;19056482;18982914;18978339;18852298;18830263;18771289;18677484;18676680;18670736;18639560;18596239;18596042;18558713;18524993;18312663;18271933;18270339;18250621;18209099;18084250;17996922;17911100;17903301;17875398;17764108;17624410;17541157;17521388;17317667;17301258;17266675;17148451;17015833;16906373;16807477;16804003;16738949;16723399;16622405;16449207;16412221;16405962;16380375;16339893;16287861;16223718;16150736;16132834;16098926;16087220;16030011;15995249;15965237;15845538;15733840;15591207;15489508;15467456;15385537;15355988;15342556;15336909;15187093;15084309;15037256;15026416;14734561;14688284;14657243;14612404;14596914;14534320;14499497;12937274;12934712;12842909;12810661;12750383;12704184;12665521;12633936;12629512;12384494;12356323;12244128;12242278;12177300;12080066;12067711;12034829;12020873;11971179;11919194;11889123;11863428;11809708;11798788;11598021;11498731;11427532;11328876;11301316;11252893;11161804;11027336;10880505;10871373;10839545;10779560;10608806;10206685;10069711;10049920;9774636;9671808;9450180;9225981;8602509;1741060;14578343;17043893;22689923;20657174;19913121;20447876;20628086;20808731;11399766;15735006;19170196;19487340;19591272;19615732;19625176;19652551;19692168;19734539;19773279;19896421;19945966;19948975;19966859;20008939;20157511;20300059;20379614;20453000;20508983;20522537;21123451;18029348;20813000;20855428;17173071;20346739;20477760;20600238;20157518;20443122;20708636;20516064;16326861;20585393;20691646;21098121;20301687;21736299;20428248;21210717;21285356;21107010;22766507;22989712;22713343;22871734;23045531;21389352;21267443;17118963;21639834;21558802;21558813;21763283;22272300;22351772;19343720;19596686;21365542;22037268;15140983;23329665;21139048;21906983;22173703;22390926;19471022;22159421;21679440;22659133;22675465;23322570;23253856;22410776;22797812;22505724;22787159 7486 Q14191;Q59F09 AB003173;AB209652;ABBA01023642;ABBA01023643;ABBA01023644;ABBA01023645;AC009563;AC084736;AF032113;AF091214;AF181896;AF181897;AL833572;AMYH01018623;AY442327;AY818673;BP279291;CH471080;L76937;NG_008870;NM_000553 AAC41981;AAC63361;AAF06162;AAR05448;AAX21098;BAD92889;EAW63424;EAW63425;EAW63426;NP_000544;Q14191 Hs.632050 1666382;1679974;1728285;1752659;1786552;1790093;1790095;1790097;1790099;1790101;1790103;1790105;1790107;1790109;1790111;1790113;1790115;1790117;1790119;1790121;1790123;1790125;1790127;1790129;1790131;1791394;1791608;2112038;2112044;2112116;2112118;2112120;2112122;2113076;2114217 D8S2162;D8S2170;D8S2233;D8S2234;D8S2236;D8S2237;D8S2300;G63421;PMC109206P1;PMC117198P1;RH64913;SHGC-106496;SHGC-111489;SHGC-37564;WI-17945;csnpwrn-pcr13-1;csnpwrn-pcr14-1;csnpwrn-pcr15-1;csnpwrn-pcr18-1;csnpwrn-pcr2-1;csnpwrn-pcr20-1;csnpwrn-pcr21-1;csnpwrn-pcr22-1;csnpwrn-pcr23-1;csnpwrn-pcr25-1;csnpwrn-pcr26-1;csnpwrn-pcr27-1;csnpwrn-pcr29-1;csnpwrn-pcr30-1;csnpwrn-pcr31-1;csnpwrn-pcr34-1;csnpwrn-pcr4-1;csnpwrn-pcr5-1;csnpwrn-pcr6-1;csnpwrn-pcr7-1 DKFZp686C2056;RECQ3;RECQL2;RECQL3 DNA helicase, RecQ-like type 3;OTTHUMP00000225301;Werner syndrome ATP-dependent helicase;exonuclease WRN;recQ protein-like 2 APPROVED protein-coding ENSG00000165392 12791 05212 277700;604611 REVIEWED 1344742 WS2B Waardenburg syndrome, type 2B 7240710 7951321 7488 12794 1312797 WNT9A wingless-type MMTV integration site family, member 9A The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008] 1 1 q42 226175320 226202222 - 228109165 228135676 - 1580863;2313743;2299944;2301993;2300156;6480464;6907045 18765832;11713592;16818445 8167409;9441749;19453261;17429723;17351820;16710414;15809769;15489334;12573259;12477932;11836627;11414706;11239392;20613673;19863181;16258938;20854080;23154410 7483 D9ZGG3;O14904 AB060283;ABBA01005823;AF028702;AK131041;AL360269;AMYH01001786;BC111960;BC113431;CH471098;CQ970130;HM015601;NM_003395 AAC39550;AAI11961;AAI13432;ADL14522;ADR82984;BAB61051;CAI38652;EAW69821;NP_003386;O14904 Hs.149504 1692274 AL033796 MGC138165;MGC141991;WNT14 OTTHUMP00000035712;protein Wnt-9a;wingless-type MMTV integration site family, member 14 APPROVED protein-coding 12778 04179 602863 VALIDATED 1352136 WRB tryptophan rich basic protein This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009] 21 21 21 q22.3 25949901 25967508 + 39674140 39691496 + 40752213 40769815 + 1580863;6480464 9544840;15489334;12477932;12189208;10830953;9480850;18029348;20200978;23041287;21444755;21139048;21906983 7485 B7Z1T1;C9JLV3;H7BYE5;H7C384;O00258 ABBA01009338;ABBA01009339;AF064861;AK293113;AK293866;AK297186;AK299144;AK299245;AK310268;AL163279;AMYH01012251;AW001614;BC012415;BC111393;CH471079;DB498697;DB500750;NM_001146218;NM_004627;Y12478 AAH12415;AAI11394;BAF85802;BAG59675;BAG61196;BAG61276;BAH11617;CAA73081;CAB90454;EAX09645;EAX09646;EAX09647;EAX09648;EAX09649;NP_001139690;NP_004618;O00258 Hs.198308 1337919;1677931;1798852;1798958;1800884;1802818;1802930;1805972;1812668;1815356;1816246;1818322;1828558;1830256;1832318;1899096;1899098;1899100;1899102;1899104;1899106;1899108;1899110;1899112;1899114;1899116;1899118;1899120;1899122;1899124;1899126;1899128;1899130;1899132;1899134;1899136;1899138;1899140;1899142;1899144;1899146;1899148;1899150;1899152;1899154;1899156;1899158;1899160;1899162;1899164;1899166;1899168;1899170;1899172;1899174;1899176;1899178;1899180;1899182;1899184;1899186;1899188;1899190;1899192;1899194;1899196;1899198;1899200;1899202;1899204;1899206;1899208;1899210;1899212;1899214;1899216;1899218;1899220;1899222;1899224;1899226;1899228;1899230;1899232;1899234;1899236;1899238;1899240;1899242;1899244;1899246;1899248;1899386;2174606;2203168;2203170;2203172;2203174;2203176;2203178;2203180;2203182;2203184;2203186;2203188;2203190;2203192 D21S1412;ECD00266;ECD00321;ECD01307;ECD02297;ECD02355;ECD03939;ECD07345;ECD08714;ECD09164;ECD10218;ECD15406;ECD16262;ECD17298;REN20346;REN20347;REN20348;REN20349;REN20350;REN20351;REN20352;REN20353;REN20354;REN20355;REN20356;REN20357;REN20358;REN20359;REN20360;REN20361;REN20362;REN20363;REN20364;REN20365;REN20366;REN20367;REN20368;REN20369;REN20370;REN20371;REN20372;REN20373;REN20374;REN20375;REN20376;REN20377;REN20378;REN20379;REN20380;REN20381;REN20382;REN20383;REN20384;REN20385;REN20386;REN20387;REN20388;REN20389;REN20390;REN20391;REN20392;REN20393;REN20394;REN20395;REN20396;REN20397;REN20398;REN20399;REN20400;REN20401;REN20402;REN20403;REN20404;REN20405;REN20406;REN20407;REN20408;REN20409;REN20410;REN20411;REN20412;REN20413;REN20414;REN20415;REN20416;REN20417;REN20418;REN20419;REN20420;REN20421;REN20422;REN20491;RH65241;SHGC-24182;stSG622737;stSG622738;stSG622739;stSG622740;stSG622741;stSG622742;stSG622743;stSG622744;stSG622745;stSG622746;stSG622747;stSG622748;stSG622749 CHD5;FLJ51808 OTTHUMP00000069044;OTTHUMP00000069046;OTTHUMP00000109172;OTTHUMP00000165173;congenital heart disease 5 protein;tail-anchored protein insertion receptor WRB;tryptophan-rich basic protein;tryptophan-rich protein APPROVED protein-coding ENSG00000182093 12790 04224 602915 REVIEWED 1605665 WRAP53 WD repeat containing, antisense to TP53 This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011] 17 17 p13.1 7532520 7547544 + 7589389 7606820 + 6480464 19179534;19571673;19342896;19339270;18676680;17683073;17081983;15489334;15302935;14702039;12477932;8125298;19250907;18978339;21205863;19170196;19625176;19692168;19797907;20494116;21072240;21441950;21368886;18029348;20360068;21963094;22547674;20301779;22939629;22805008 55135 E9PMG4;E9PMR3;K7EJ50;Q9BUR4 ABBA01054880;ABBA01054881;ABBA01054882;AC087388;AK001247;AK056669;AK092370;AK225273;AK225411;AK303246;AMYH01008085;AY766322;AY766323;BC002336;CH471108;DQ431240;DQ431241;NG_028245;NM_001143990;NM_001143991;NM_001143992;NM_018081 AAH02336;AAW92115;AAW92116;ABD92817;ABD92818;BAA91579;BAG51781;BAG64330;EAW90136;EAW90137;EAW90138;EAW90139;NP_001137462;NP_001137463;NP_001137464;NP_060551;Q9BUR4 Hs.408312 1656789;1698792;1741649;1743427;2189385 D17S634;GDB:181608;GDB:316876;MARC_3409-3410:991937215:1;RH102959 DKCB3;FLJ10385;TCAB1;WDR79 OTTHUMP00000166046;OTTHUMP00000166047;OTTHUMP00000233829;OTTHUMP00000233830;OTTHUMP00000233831;WD repeat domain 79;WD repeat-containing protein 79;WD-encoding RNA antisense to p53;WD40 protein Wrap53;WD40 repeat-containing protein encoding RNA antisense to p53;telomerase Cajal body protein 1 APPROVED protein-coding ENSG00000141499 25522 07670 612661;613988 REVIEWED 1346811 WSN Waisman syndrome 7240710 7489 12795 1350775 WRAP73 WD repeat containing, antisense to TP73 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009] 1 1 1 p36.3 2802433 2821099 - 3537199 3556497 - 3547331 3566671 - 6480464 17353931;16710414;15489334;14702039;12477932;11401440;8125298;19615732;17207965;20360068;21890473;21906983 49856 J3KTP2;Q5T0D5;Q5TBW1;Q9P2S5 AB034912;ABBA01073655;AI376011;AK000437;AK225525;AK302397;AL136528;AL513320;AMYH01000192;BC002611;BC086311;CH471130;DC380547;EF494669;NM_017818 AAH86311;ADQ32406;BAA91164;BAA92312;BAG63711;EAW71459;EAW71460;EAW71461;NP_060288;Q9P2S5 Hs.31714 1687341;1706342;2175697 RH93413;SHGC-32565;SHGC-80737 FLJ20430;MGC99569;WDR8 OTTHUMP00000000664;OTTHUMP00000000665;OTTHUMP00000000666;WD repeat domain 8;WD repeat-containing protein 8;WD repeat-containing protein WRAP73;WD repeat-containing protein antisense to TP73 APPROVED protein-coding ENSG00000116213 12759 06918 606040 REVIEWED 1603698 WSCD1 WSC domain containing 1 17 17 17 p13.2 5989799 6043603 + 5914658 5968471 + 5973934 6027747 + 6480464 12477932;9628581 23302 I3L0U0;I3L127;I3L2Y9;I3L3E6;I3L3G4;I3NI40;Q658N2 AB011095;ABBA01054824;AC001231;AC104770;AK000243;AK289603;AK309645;AL833730;AMYH01008056;BC009975;BE504506;CH471108;NM_015253 AAH09975;BAA25449;BAF82292;CAH56249;EAW90316;EAW90317;EAW90318;EAW90319;NP_056068;Q658N2 Hs.370166 1338832;1759591;2184351 D17S1414E;D17S1832;SHGC-150915 KIAA0523 WSC domain-containing protein 1 protein-coding ENSG00000179314 29060 17193 VALIDATED 1354232 WT2 Wilms tumor 2 7240710 7491 12797 130650;180860;194071 1605710 WSCD2 WSC domain containing 2 12 12 12 q23.3 108192896 108313742 + 107047641 107168444 + 108523511 108644314 + 6480464 18003638;14702039;12477932;9872452;22365631 9671 F8W030;Q2TBF2 AB018332;ABBA01053141;ABBA01053142;AC009729;AK098069;AK293764;AMYH01004728;BC010411;BC037969;BC110330;BC136687;BC136688;BM511109;BX488602;BX647283;CH471054;NM_014653 AAH37969;AAI10331;AAI36688;AAI36689;BAA34509;BAG57182;EAW97807;EAW97808;EAW97809;NP_055468;Q2TBF2 Hs.143591 1712498;1738863;1770814;2168546 D12S1254;D16S2908;G54198;NIB1630 KIAA0789;MGC117165 OTTHUMP00000241594;OTTHUMP00000241930;OTTHUMP00000241931;WSC domain-containing protein 2 protein-coding ENSG00000075035 29117 17196 VALIDATED 1346731 WSB2 WD repeat and SOCS box containing 2 This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 12 12 12 q24.23 118100954 118120938 - 116954875 116983334 - 118470492 118498951 - 1580863;6480464 15489334;12477932;12076535;11819827;9110174;8619474;16169070;21145461;20059963;20379614;17207965;21070969;17001306;17079684;19322201;16344560;22939624 55884 B4DFS1;B4DIE6;B4DPV6;F5GXB6;F5H024;F5H280;F5H2L7;Q9NYS7 ABBA01020046;ABBA01020047;ABBA01020048;AC131159;AC131238;AF038187;AF163324;AF229181;AK294230;AK295555;AK298513;AK310892;AMYH01004786;BC015887;CA419381;CA443120;CH471054;DA772463;NM_001278557;NM_001278558;NM_018639 AAF71302;AAF80478;AAH15887;ADQ31750;BAG57532;BAG58458;BAG60718;EAW98117;EAW98118;NP_001265486;NP_001265487;NP_061109;Q9NYS7 Hs.506985 1666638;1667938;1684421;2128858;2180740;5016781 Bdaa5h08;D12S1213E;D12S1776;HUMHM01G06;SHGC-67307;WI-13177 MGC10210;SBA2 CS box-containing WD protein;OTTHUMP00000239708;OTTHUMP00000239709;OTTHUMP00000239710;WD repeat and SOCS box containing protein 2;WD repeat and SOCS box-containing 2;WD repeat and SOCS box-containing protein 2;WSB-2 APPROVED protein-coding ENSG00000176871 19222 18305 REVIEWED 6766607 WTAPP1 Wilms tumor 1 associated protein pseudogene 1 11 q22.2 102654407 102707497 + 14702039;19913121;20628086;20031604 100288077 ABBA01039931;AK097805;AMYH01003992;AP000619;AP000789;CH471065;NR_038390 EAW67030 Hs.661772 1653581;1661212;1703478;1712110;1742571;1791792;1791796;1792474;1792476;1794890;1794922;1855507;2115489;2151235 D14S1188;G54104;GDB:197898;MMP1;PMC125702P3;PMC125702P5;PMC151710P3;PMC151710P4;PMC65699P1;PMC85083P2;RH17661;SHGC-11954;SHGC-82595;STS-X05232 pseudo ENSG00000255282 44115 VALIDATED 1342868 WTS Wilson-Turner X-linked mental retardation syndrome 7240710 1746601;1605216 7492 1694318 DXS94 12798 300882;309585 1346094 WRNIP1 Werner helicase interacting protein 1 Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012] 6 6 p25.2 2710665 2730978 + 2765666 2785979 + 727771;1580863;6480464 11301316 15670210;18842586;17550899;17081983;15592455;15489334;15302935;14702039;14574404;12477932;8125298;18613717;17888034;19556710;19615732;18029348;20676042;16055720;22939629;21252943;21903422;21987572;22118674;21139048;21890473;21906983;22209848;23275444;23314748;23383273;17203973;22863883;18729074;22053931;22505724 56897 B3KT25;Q9NRJ6 AB056152;AB209723;ABBA01048628;AF218313;AK026179;AK094823;AK223593;AK315047;AK315471;AL139092;AMYH01016026;BC018923;CH471087;FB750028;NM_020135;NM_130395;U56249 AAF80563;AAH18923;ABM82876;ABM86062;BAB15383;BAB60709;BAD92960;BAD97313;BAG37857;BAG52937;CAT02184;EAW55085;EAW55086;EAW55087;EAW55088;NP_064520;NP_569079;Q96S55 Hs.236828 1646335;1677282;1704038;1719945;1770349;2122266;2155663;5014053;5092828 A002J08;A006H22;D1S3693;G32355;RH123951;RH92011;SGC33420;SHGC-34828;SHGC-77842 FLJ22526;RP11-420G6.2;WHIP;bA420G6.2 ATPase WRNIP1;OTTHUMP00000015944;OTTHUMP00000015945;OTTHUMP00000015946;OTTHUMP00000015947;putative helicase RUVBL APPROVED protein-coding ENSG00000124535 20876 10494 608196 REVIEWED 1317261 WSB1 WD repeat and SOCS box containing 1 This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 17 17 q11.1 22645233 22664772 + 25621106 25640645 + 6480464 18978678;11076863;18093972;11256614;18029348;18575577;16804916;16498413;16381901;15965468;15489336;15489334;14702039;12477932;12076535;11384984;11230166;10931946;10354473;8125298;21145461;17207965;17452445;20487506;17001306;21540461;21900206;21890473;21906983;21963094;17079684;18187417;19159283;23064961 26118 B4DGB8;B4DTL1;J3KRG6;J3KS88;J3KSQ3;J3KT03;J3KTB3;J3QLM8;Q9Y6I7 ABBA01015072;AC026254;AF069313;AF072880;AF106683;AF106684;AF112205;AF147442;AF240696;AK057082;AK074917;AK222576;AK294516;AK300262;AK307114;AL110243;AL110269;AMYH01008275;BC005226;BC021110;BC048007;BU189299;CH471159;NM_015626;NM_134265 AAD20954;AAD28808;AAD43036;AAD43037;AAF17193;AAF82746;AAH05226;AAH21110;ADQ32224;BAC11291;BAD96296;BAG57729;BAG62023;CAB53693;CAB53708;CAL38287;CAL38541;EAW51026;EAW51027;EAW51028;EAW51029;EAW51030;EAW51031;NP_056441;NP_599027;Q9Y6I7 Hs.446017 1677586;1678275;1739481;2159594;5037552 D17S1698;D8S2279;G24371;RH68596;RH69336 SWIP1;WSB-1 OTTHUMP00000163132;OTTHUMP00000163133;SOCS box-containing WD protein SWiP-1;WD repeat and SOCS box-containing 1;WD repeat and SOCS box-containing protein 1 APPROVED protein-coding ENSG00000109046 19221 15680 610091 REVIEWED 1605386 WT1-AS WT1 antisense RNA This gene is located upstream of the Wilms tumor 1 (WT1) gene; these two genes are bi-directionally transcribed from the same promoter region. The WT1 gene is a tumor suppressor gene that has been implicated in Wilms tumor, and it is expressed in cells of mesodermal origin. This gene and the WT1 gene have the same temporal and cell-restricted expression pattern, although the expression of this gene is less abundant than WT1 expression. WT1 is involved in the development of the urogenital system, whereas the role of this gene in embryogenesis is unclear. This gene appears to produce antisense RNA transcripts that help regulate the WT1 gene. This gene is imprinted in kidney, with preferential expression from the paternal allele, and it has been proposed that imprinting defects at chromosome 11p13 may contribute to Wilms' tumourigenesis. [provided by RefSeq, Oct 2010] 11 11 11 p13 32604017 32608368 + 32416251 32418212 + 32457285 32461636 + 6480464 2173145;16554811;16344560;15687485;15489334;12477932;10340388;8406502;8208551;17210670 51352 Q06250 ABBA01060912;AL049692;AMYH01003479;BC002734;BC096708;BC098290;BC100673;BX110205;CH471064;DB262871;L25110;M60614;NG_009272;NR_023920;X69950 AAA63269;CAA49572;EAW68219;Q06250 Hs.567499 1743031;1743737;1743739;1743741;1743743;1743745;1743747;1743749;1744531;1744533;1745171;1745173;1745175;1745177;1745181;1778927;2151970;5493191 D11S4382;GDB:250580;GDB:371622;GDB:371627;GDB:371630;GDB:371633;GDB:371636;GDB:371639;GDB:371642;GDB:512306;GDB:512315;GDB:595974;GDB:595983;GDB:595991;GDB:596004;GDB:596045;RH17710;UniSTS:484689 MGC120207;MGC120208;MGC120209;WIT-1;WIT1;WT1-AS1;WT1AS;dJ74J1.1 APPROVED miscrna 18135 07439 607899 VALIDATED 69122 WT1 Wilms tumor 1 This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation site upstream of and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Oct 2010] 11 11 p13 32365901 32413663 - 32409321 32457081 - 1331525;1580623;1580624;1580863;2315543;2315539;2315541;2315542;2315545;2315544;6480464;7240710 15118671;12914969;12161615;19407365;19856421;19543245;19443388;8381965;1316081 20412098;7862627;22238403;7862533;8393820;7585606;19549856;19536888;19416806;19351817;19321755;19236519;19221039;19212333;19190340;19171881;19141860;19137020;19120973;19097357;18972317;18950857;18929401;18801058;18756326;18752126;18751389;18722603;18708366;18703217;18688870;18644985;18618575;18604725;18591546;18590714;18559874;18528287;18516627;18469795;18466223;18464243;18443273;18425046;18424770;18385267;18371184;18311776;18292948;18273617;18271004;18260155;18255279;18231915;18231640;18212735;18202757;18181329;18094593;18081724;18065803;18064689;18064385;18058136;18042071;18034345;17972942;17947653;17934764;17912546;17886559;17869219;17853480;17803653;17728783;17721194;17716689;17688410;17665418;17630404;17599043;17579045;17551084;17541636;17540436;17531467;17524167;17508006;17496156;17487399;17371932;17216259;17210670;17206472;17205055;17160023;16990584;16987884;16966277;16934801;16927106;16924231;16920711;16909243;16883592;16876863;16857797;16828156;16780544;16554811;16518414;16502587;16467207;16087727;15982325;15957141;15927676;15894924;15878620;15845894;15838390;15780077;15696971;15687485;15674342;15661271;15540161;15538407;15534117;15510596;15506928;15504938;15504250;15489334;15483024;15365188;15339675;15297187;15286719;15266301;15253707;15223639;15150775;15084838;14988155;14988020;14962262;14767530;14702039;14701728;14681303;14666652;12970737;12961083;12960088;12901797;12841869;12841384;12829997;12824921;12824878;12761165;12681485;12665546;12477932;12471221;12444079;12411326;12239212;12213901;12200377;12199781;12133898;12127961;12111123;12070003;11986946;11960373;11939727;11933209;11919196;11912180;11889045;11738793;11595161;11237525;11182928;11001926;10838070;17940140;10571943;9784496;9529364;9475094;9366517;9108089;9006935;8956030;8621495;8414514;8401592;8389468;8388765;8290269;8112732;8098976;8086342;7926762;7731725;6088386;2173145;2154702;2154335;1671709;1658787;1655284;1654525;1572653;1338906;1317572;1313285;1302008;16260903;8943350;8798754;9556563;8295405;22555024;20885852;21643023;21909685;22510877;22585769;21269566;15961562;21097671;21135860;7856737;20450766;20592250;20619457;20644087;20678218;10101119;10490105;10744705;11278547;12151099;12802290;1332065;14603255;14736876;15518539;15520190;1662794;17605875;17706117;17939399;17956689;18666806;19050011;19169475;19205749;19250757;19322206;19404640;19437143;19494353;19605546;19615003;19618455;19730683;19747485;19749460;19752335;19776535;19811333;19817904;19847202;20013787;20016532;20025481;20038731;20122399;20204298;20332316;20368538;20379614;20413658;20435628;20442368;20442690;20507940;7588596;7720589;8119964;8306891;9178767;9553041;9765217;9815658;22623625;20842112;23403166;20092642;20150449;20368469;19578047;20871039;20376582;8012395;9361029;19099861;20880116;20959405;17848411;19017365;19067769;19638168;20591825;20974136;21867623;22391154;20861915;20849384;20595692;20651072;20619105;20736771;20972333;22875062;22895555;23070125;21256590;21209057;21378168;22415091;19951528;20971509;21673345;21344764;21189373;21189390;21269271;22925896;22939983;21057459;21447831;21508141;21390327;21504297;21734473;21697701;22796116;20561402;21888469;22030397;21710692;21658388;21607557;21798259;21896989;21900206;21804407;22261458;23042785;22688351;21659357;21760594;22172722;21851196;21898091;21942328;21967832;21985433;22015946;22093791;22148937;22152856;22242671;22276610;22313360;22382985;20301471;20301534;22246978;22306650;21499692;22558480;22876585;19447967;21988832;22434317;23111196;22797561;22915059;21980157;22040952;22800892;22898820;22506617;23298185;23207289 7490 E9PKS2;E9PPW3;H0Y3F0;H0Y7K5;H0YED9;J3KNN9;Q4VXV6;Q6PI38 ABBA01060912;AK093168;AK291736;AL049692;AMYH01003478;AMYH01003479;AY245105;BC032861;BC046461;BG718348;CH471064;M30393;M80217;M80232;NG_009272;NM_000378;NM_001198551;NM_001198552;NM_024424;NM_024426;S60755;S61515;S74529;S75264;S77896;U06486;U77682;X51630;X61631;X72314;X74840;X77549 AAA36810;AAA61299;AAA62865;AAB20110;AAB33427;AAB33443;AAC60605;AAD14879;AAH32861;AAH46461;AAO61088;ADZ15874;BAF84425;BAG52667;CAA35956;CAA43819;CAA51057;EAW68220;EAW68221;EAW68222;EAW68223;EAW68224;EAW68225;EAW68226;NP_000369;NP_001185480;NP_001185481;NP_077742;NP_077744;P19544 Hs.591980 1662664;1664674;1721327;1737895;1741225;1741901;1743031;1743033;1743035;1743037;1743039;1743041;1743043;1743419;1743737;1743739;1743741;1743743;1743745;1743747;1743749;1743751;1743753;1743755;1743757;1743759;1743761;1743763;1743765;1743767;1744531;1744533;1745171;1745173;1745175;1745177;1745181;1790317;1793286;1797040;2179707;5016498;5094152;5120369;5120457;5120714;5125946;5491352;7188331 D11S3501;D11S813E;G15888;G54575;G59663;GDB:178695;GDB:186603;GDB:250580;GDB:250581;GDB:250582;GDB:250583;GDB:250584;GDB:250585;GDB:250586;GDB:313098;GDB:316182;GDB:316186;GDB:371622;GDB:371627;GDB:371630;GDB:371633;GDB:371636;GDB:371639;GDB:371642;GDB:371645;GDB:371654;GDB:371660;GDB:371667;GDB:371670;GDB:371673;GDB:371676;GDB:371679;GDB:371682;GDB:371686;GDB:512306;GDB:512315;GDB:568832;GDB:595974;GDB:595983;GDB:595991;GDB:596004;GDB:596045;PMC20552P1;RH18097;UniSTS:148287;WT;WT1;WT1-2;WT1_1108 AWT1;EWS-WT1;GUD;NPHS4;WAGR;WIT-2;WT33 OTTHUMP00000037553;OTTHUMP00000037554;OTTHUMP00000037555;OTTHUMP00000037556;OTTHUMP00000238018;Wilms tumor protein;amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1 APPROVED protein-coding ENSG00000184937 12796 06163 136680;156240;194070;194080;256370;607102;608978 REVIEWED 6481417 WWC3-AS1 WWC3 antisense RNA 1 100873953 AC002365 APPROVED miscrna 41236 1343375 WTIP Wilms tumor 1 interacting protein 19 19 19 q13.11 31685286 31704490 + 39664720 39683925 + 34972880 34992085 + 6480464 14736876;12477932;18331720;19785987;20086015;20133701;21686224;22286099;21900451 126374 A6NIX2;K7EKM1 ABBA01018721;ABBA01018722;ABBA01018723;AC008747;AK130059;AMYH01009717;BC030216;NM_001080436 A6NIX2;AAI60027;NP_001073905 Hs.585010 1649449;1689460 RH91502;STS-AA025297 WT1-interacting protein;Wilms tumor protein 1-interacting protein protein-coding 20964 614790 PROVISIONAL 1321461 WTAP Wilms tumor 1 associated protein The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012] 6 6 q25-q27 160068142 160097341 + 160148030 160177351 + 6480464 15146197;16344560;10942595;19084217;18505803;17095724;17088532;16912181;16189514;15489334;15302935;15009096;14675924;12522145;12477932;12444081;11001926;7788527;18029348;19605357;19969384;17207965;22939629;22957919;15161933;19322201;21628590;21139048;21890473;21906983;19531213;22505724 9589 Q15007;Q9BZS4 AA706250;ABBA01021063;ABBA01021064;AF277190;AF374416;AJ276706;AK127822;AK131393;AK290854;AL135914;AL583911;AMYH01016803;AMYH01016804;BC000383;BC004432;BC028180;BC069192;BE906617;BG702882;BQ778248;BQ948913;BX387163;CH471051;CN284477;CR627456;D14661;DA138013;DA561768;NM_001270531;NM_001270532;NM_001270533;NM_004906;NM_152857;NM_152858 AAH00383;AAH04432;AAH69192;AAK07548;AAK54764;ADQ32040;BAA03495;BAF83543;BAG54579;CAC10188;CAC29495;CAH10537;EAW47622;EAW47623;EAW47624;EAW47625;EAW47626;EAW47627;EAW47628;NP_001257460;NP_001257461;NP_001257462;NP_004897;NP_690596;NP_690597;Q15007 Hs.446091 1663184;1669092;1677226;1689722;2153137;2175359;2179953;2181556 D6S1433;RH25332;RH40826;RH45141;RH45346;RH45351;SHGC-56705;SHGC-56803 DKFZp686F20131;KIAA0105;MGC3925 OTTHUMP00000017522;OTTHUMP00000017523;PNAS-132;WT1-associated protein;Wilms' tumour 1-associating protein;female-lethal(2)D homolog;hFL(2)D;pre-mRNA-splicing regulator WTAP;putative pre-mRNA splicing regulator female-lethal(2D);wilms tumor 1-associating protein APPROVED protein-coding ENSG00000146457 16846 09259 605442 REVIEWED 7248316 WWP1P1 WW domain containing E3 ubiquitin protein ligase 1 pseudogene 1 339843 ABBA01026928;AC016962;AMYH01013352;NG_022259 pseudo 48944 INFERRED 1602647 WWC2-AS2 WWC2 antisense RNA 2 4 4 4 q35.1 181352185 181354363 - 184255168 184257346 - 184018174 184020352 - 6480464 14702039;12477932 152641 Q96NR7 ABBA01070496;AC019193;AK054839;AMYH01014760;BC126477;BC126479;CH471056;NR_024008 BAB70812;EAX04695 Hs.182635 1690782;5493165;5493839 RH99022;UniSTS:484523;UniSTS:495257 C4orf38;FLJ30277;FLJ30278;MGC161755;MGC161757 APPROVED miscrna ENSG00000251359 26390 08082 VALIDATED 1351210 WWS Wieacker-Wolff syndrome 7240710 7493 12800 314580 1605043 WWC2 WW and C2 domain containing 2 4 4 4 q35.1 181354474 181575877 + 184257457 184478924 + 184020463 184241930 + 6480464 15302935;14702039;12477932;8125298;19913121;20628086;15161933;20881960;22948661 80014 D6R9P8;F8WET3;Q9H6P0 ABBA01070496;ABBA01070497;ABBA01070498;AC019193;AC093844;AC099397;AJ566366;AK025682;AK074260;AK091401;AK126057;AK127061;AK225323;AL832424;AMYH01014760;AMYH01014761;BC017957;BC053873;BC107683;BM046889;BX647378;BX647704;CH471056;DN999977;NM_024949 AAH17957;AAH53873;AAI07684;BAB15215;BAB85032;BAC86418;BAC86807;CAD97477;CAH10569;CAH10570;CAH10641;EAX04694;NP_079225;Q6AWC2 Hs.333179 1651315;1667942;1673953;1679942;1683160;1690782;1724403;1748783;1764733;1773661;1774954;1857028;2106447;2117730;2129260;2129932;2136327;2144528;2149671;2170894;2182082 BOMB_4459;D4S2865;D4S3306;G16725;G33625;RH122363;RH36596;RH75012;RH99022;SHGC-110403;SHGC-148320;SHGC-24797;SHGC-25154;SHGC-35220;SHGC-50189;SHGC-50362;SHGC-59360;SHGC-59361;SHGC-59814;SHGC-59862;SHGC-67248 BOMB;FLJ22029;FLJ34082 BH-3-only member B;BH3-only member B protein;OTTHUMP00000198246;OTTHUMP00000218735;OTTHUMP00000218736;OTTHUMP00000218737;WW domain-containing protein 2;WW, C2 and coiled-coil domain containing 2;protein WWC2 protein-coding ENSG00000151718 24148 12529 VALIDATED 1601752 WWC3 WWC family member 3 This gene encodes a member of the WWC family of proteins, which also includes the WWC1 (KIBRA) gene product and the WWC2 gene product. The protein encoded by this gene includes a C2 domain, which is known to mediate homodimerization in the related WWC1 gene product. [provided by RefSeq, Sep 2011] X X X p22.32 14155064 14283798 + 9943795 10072518 + 9983795 10112518 + 6480464 15489334;16344560;14702039;12477932;10574462;21832049 55841 Q9ULE0 AA401229;AB033106;ABBA01070787;ABBA01070788;ABBA01070789;ABBA01070790;ABBA01070791;ABBA01070792;ABBA01070793;ABBA01070794;ABBA01070795;ABBA01070796;ABBA01070797;AC002359;AC002364;AC002365;AC121345;AI130747;AI306162;AK024683;AK091936;AK292961;AK301129;AL353937;AMYH01022073;AMYH01022074;BC003527;BC032447;BC035601;BC098455;BU500300;BU500742;CH471074;DA728210;DB636564;NG_021467;NM_015691 AAH03527;AAH32447;AAI56329;AAI57115;BAA86594;BAF85650;BAG52444;BAG62722;CAH56367;EAW98775;NP_056506;Q9ULE0 Hs.527524 1647212;1664714;1694002;1694006;1694026;1702840;2151774;2188245 A004I46;AF003657;AF003659;AF003671;DXS410;DXS8188;G66296;WI-17390 BM042;KIAA1280 OTTHUMP00000022889;protein WWC3 APPROVED protein-coding ENSG00000047644 29237 11136 VALIDATED 1601880 WWC1 WW and C2 domain containing 1 The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] 5 5 q34 167651670 167829342 + 167719065 167899308 + 6480464 17707552;19058786;18789830;18378080;18205171;18194457;18190796;17353070;17053149;16684779;15489334;15081397;14702039;12559952;12477932;10048485;8889548;16169070;21173572;21185624;16484223;17010949;18596123;18672031;19397951;19606085;19804789;20125193;20150879;20185150;20379614;20509760;17994011;20691427;20881395;21233212;21204039;21497093;22904328;23163744;18029348;21943600;21976506;21878642;22430796;22614006;22794909;21643791;17043677;21346737;21900206;23266749;22129841;22699663;23065961;22948661;22784093 23286 H0YAU4;H0YBE8;H3BLZ3;Q8IX03 AB020676;ABBA01044126;ABBA01044127;ABBA01044128;ABBA01044129;ABBA01044130;ABBA01044131;AC020894;AC026689;AF506799;AF530058;AK001727;AK027022;AK126376;AK296323;AMYH01015793;AMYH01015794;AY189820;BC004394;BC017746;BC038463;BC042553;BX640827;CA313640;CH471062;DR001014;NG_016712;NM_001161661;NM_001161662;NM_015238 AAH04394;AAH17746;AAH42553;AAI56528;AAI72519;AAO15881;AAO73817;AAQ09942;BAA74892;BAG54317;BAG59017;CAE45903;EAW61508;EAW61509;EAW61510;NP_001155133;NP_001155134;NP_056053;Q8IX03 Hs.484047 1336874;1337129;1654278;1654547;1659214;1684325;1688526;1722879;1740509;1754939;1762321;1765819;1770393;1785462;2120863;2125666;2129647;2133422;2136302;5015404;5016478;5024413;5037552 A008Y41;D5S1651E;D5S1974;D5S2299E;D5S2709;D5S671;D8S2279;G60534;GDB:434012;L17705;L17877;RH12681;RH46531;RH48307;RH98746;SGC34514;SGC38213;SHGC-141859;SHGC-146166;SHGC-149247;SHGC-149466;SHGC-1819;WI-16909 FLJ10865;FLJ23369;HBEBP3;HBEBP36;KIAA0869;KIBRA HBeAg-binding protein 3;OTTHUMP00000160959;OTTHUMP00000222978;OTTHUMP00000222979;OTTHUMP00000223030;WW, C2 and coiled-coil domain containing 1;kidney and brain protein;protein KIBRA;protein WWC1 APPROVED protein-coding ENSG00000113645 29435 10033 610533 REVIEWED 5132481 WWTR1-AS1 WWTR1 antisense RNA 1 3 3 3 q25.1 147685649 147788830 + 150755600 150858502 + 149375997 149379151 + 12477932 100128025 ABBA01058942;AC012014;AK130903;AK309441;AMYH01013571;BC041444;NR_040250 Hs.680428;Hs.715926 1651951;2175421;5016478 D3S3338;GDB:434012;SHGC-77442 FLJ27393 APPROVED miscrna ENSG00000241313 41035 VALIDATED 1606029 XAGE1A X antigen family, member 1A This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X p11.22 52255549 52260676 + 52255219 52260363 - 6480464 10197611;10987281;11774264;11992404;12479262;14696120;14747957;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17704638;18045611;18752338;19498007;20178013;17666327;18803763;20704819;21305256;21413013 653219 Q9HD64 AF251237;AJ290447;AJ318878;AJ318879;AJ400997;AMYH01022368;AMYH01022369;AX455517;BC009538;BT007099;BX088602;CS134500;NM_001097592;NM_001097593;NR_033253 AAG01401;AAH09538;AAP35763;CAC38107;CAC38108;CAC82986;CAC82987;CAD38240;CAJ21130;NP_001091061;NP_001091062;Q9HD64 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1a;CTP9;GAGED2;XAGE-1;XAGE1;XAGE1B;XAGE1C;XAGE1D;XAGE1E CT12.1;G antigen family D member 2;G antigen, family D, 2;OTTHUMP00000023312;OTTHUMP00000042363;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1a;cancer/testis associated protein;protein XAGE-1 APPROVED protein-coding ENSG00000204379 4111 300742 REVIEWED 1625833 XAGE1B X antigen family, member 1B This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X p11.22 52557778 52562914 - 52238810 52243954 + 18752338;17704638;17332921;10197611;10987281;11774264;11992404;12479262;14696120;15800911;15905609;16061866;16468707;16715135;17335148;18045611;19498007;17666327;18803763;20704819;21305256;21413013 653220 Q9HD64 AF251237;AJ290447;AJ318878;AJ318879;BC009538;BT007099;BX088602;BX510359;NM_001097594;NM_001097596;NR_033254 AAG01401;AAH09538;AAP35763;CAC38107;CAC82986;CAC82987;NP_001091063;NP_001091065;Q9HD64 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1b;CTP9;GAGED2;XAGE-1;XAGE1A;XAGE1C;XAGE1D;XAGE1E;XAGE1E. CT12.1;G antigen family D member 2;OTTHUMP00000039566;OTTHUMP00000039567;OTTHUMP00000224391;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1b;cancer/testis associated protein;protein XAGE-1 APPROVED protein-coding ENSG00000204382 25400 300743 REVIEWED 1320534 WWOX WW domain containing oxidoreductase WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). The highest normal expression of this gene is detected in hormonally regulated tissues such as testis, ovary, and prostate. This expression pattern and the presence of an SRD domain suggest a role for this gene in steroid metabolism. The encoded protein is more than 90% identical to the mouse protein, which is an essential mediator of tumor necrosis factor-alpha-induced apoptosis, suggesting a similar, important role in apoptosis for the human protein. In addition, there is evidence that this gene behaves as a suppressor of tumor growth. Alternative splicing of this gene generates transcript variants that encode different isoforms. [provided by RefSeq, Jul 2008] 16 16 q23.3-q24.1 76691052 77804065 + 78133327 79246564 + 1599874;6480464;7240710 11956080 17909041;17704139;17609426;17289881;17200365;17178850;17163164;16941225;16818616;16438931;16360296;16288044;16223882;16219768;16152610;16115915;16061658;15998374;15982416;15798093;15674328;15580310;15548692;15489334;15345747;15266310;15131042;15126504;15073846;15073125;15070730;15044096;15026124;14695174;14526170;10786676;10861292;15064722;19465938;19458077;19352382;19188760;19130459;19035517;19027726;18674750;18629536;18620777;18487609;18460020;18452537;18371080;18365142;18273838;18061530;18047428;17947476;12514174;12477932;11719429;11572989;11058590;15761153;22248280;22202011;21466786;14965474;19434452;19484134;19584346;19708029;19844255;19896763;20074932;20146584;20379614;20367991;20480411;19950548;20737170;20923822;20510001;20530675;21107309;20800603;20942981;16055720;21138684;20401669;21552555;16344560;21476439;21165567;21276135;20060354;20535528;21612698;20556583;21347750;22869583;22412018;23568457;22736928;19087571;22226915;22898080;19957554;21520031;19144635;21499303;21332605;21685375;19366691;22193544;22479346;22484428;23197378;21139048;21906983;21946350;22158537;21767287;22317867;22634283;19047365;22584572;21983861;22555346;22952603;23284291;23319000;22213016;22842668;23030478;23370280;22717556;22505724 51741 F5H3R5;H3BMD1;Q9NRF5 ABBA01017012;ABBA01017013;ABBA01017014;ABBA01017015;ABBA01017016;ABBA01017017;ABBA01017018;ABBA01017019;ABBA01017020;ABBA01017021;ABBA01017022;ABBA01017023;ABBA01017024;ABBA01017025;ABBA01017026;AC009044;AC009141;AC009145;AC027279;AC046158;AC079414;AC092376;AC106743;AC109134;AC136603;AF187015;AF211943;AF212843;AF227526;AF227527;AF227528;AF227529;AF325423;AF325429;AF325432;AF395123;AF395124;AK027626;AK290438;AK291300;AK298322;AMYH01007826;AMYH01007827;AMYH01007828;AMYH01007829;AMYH01007830;AMYH01007831;AMYH01007832;AMYH01007833;AW874693;AY256821;BC003184;BT007445;CH471114;DB035405;NG_011698;NM_016373;NM_130791;NM_130844;U13395 AAA21465;AAF27049;AAF27050;AAF31694;AAF82053;AAF82054;AAF82055;AAF82056;AAH03184;AAK81727;AAK81728;AAL05449;AAL05450;AAL05451;AAP36113;AAP94227;BAF83127;BAF83989;BAG51361;BAG60575;EAW95579;EAW95580;NP_057457;NP_570607;NP_570859;Q9NZC7 Hs.461453 1298258;1336413;1337693;1337881;1339251;1341069;1341106;1655178;1657874;1665206;1677860;1679734;1686230;1686534;1689510;1694592;1715765;1717485;1721361;1721705;1721735;1723089;1725339;1730225;1736578;1738485;1738505;1738585;1738703;1738731;1738773;1749669;1755743;1758041;1759399;1763699;1764319;1766881;1776029;1777854;1778929;1783326;1783366;1783420;1847093;1853919;1856734;2117601;2118819;2119808;2121782;2132701;2143564;2147576;2158543;2159226;2170860;2175532;2180827;2182189;5017671;5093104;5094368;5094743;5094745;5107597;5108747;5121783;7186290;7187440;7187563 A009G06;A336YG9;AF007377;AFM350VD1;D14S164;D16S2571E;D16S2683;D16S2694;D16S2742;D16S2812;D16S2830;D16S2854;D16S2957;D16S3029;D16S3049;D16S3096;D16S3213;D16S3307;D16S3324;D16S3344;D16S435E;D16S504;D16S516;D16S518;D16S684;G15863;G19118;G29254;G32522;G43289;G54637;G59680;G59715;G59732;MFD466-TTA;RH11464;RH118987;RH119330;RH120880;RH12208;RH122248;RH15657;RH27913;RH65116;RH65187;RH65206;RH65299;RH69741;RH70047;RH70328;RH78191;SHGC-111352;SHGC-111467;SHGC-142593;SHGC-147192;SHGC-147374;SHGC-147929;SHGC-147930;SHGC-151189;SHGC-152307;SHGC-155340;SHGC-36289;SHGC-60733;SHGC-60781;STS-AA010189;STS-T69772;U48593;UMNe096 D16S432E;FOR;FRA16D;HHCMA56;PRO0128;SDR41C1;WOX1 WW domain-containing oxidoreductase;WW domain-containing protein WWOX;fragile site FRA16D oxidoreductase;short chain dehydrogenase/reductase family 41C, member 1 APPROVED protein-coding ENSG00000186153 12799 05501 133239;605131 REVIEWED 1625844 XAGE1C X antigen family, member 1C This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X p11.22 52528494 52533630 + 52511761 52516905 + 10197611;10987281;11774264;11992404;12479262;14696120;14747957;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17704638;18045611;18752338;19498007;17666327;18803763;20704819;21305256;21413013;21139048;21906983;23000965 653048 Q9HD64 AF251237;AJ290447;AJ318878;AJ318879;AL772246;AX455515;BC009538;BT007099;NM_001097597;NM_001097598;NR_033251 AAG01401;AAH09538;AAP35763;CAC38107;CAC82986;CAC82987;CAD38238;CAI41526;CAI41527;CAI41528;NP_001091066;NP_001091067;Q9HD64 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1C;CTP9;GAGED2;XAGE-1;XAGE1A;XAGE1B;XAGE1D;XAGE1E CT12.1;G antigen family D member 2;OTTHUMP00000023314;OTTHUMP00000042365;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1c;cancer/testis associated protein;protein XAGE-1 APPROVED protein-coding ENSG00000183461 30679 300744 REVIEWED 1625843 XAGE1E X antigen family, member 1E This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X p11.22 52255543 52260679 + 52541053 52546197 - 10197611;10987281;11774264;11992404;14696120;15800911;15905609;16061866;16468707;16715135;17332921;17335148;17704638;18045611;18752338;19498007;12479262;17666327;18803763;20704819;21305256;21413013 653067 Q9HD64 AF251237;AJ290447;AJ318878;AJ318879;AL772246;BC009538;BT007099;BX510359;NM_001097604;NM_001097605;NR_033257 AAG01401;AAH09538;AAP35763;CAC38107;CAC82986;CAC82987;CAI41532;CAI41533;CAI41534;NP_001091073;NP_001091074;Q9HD64 Hs.112208;Hs.546096;Hs.584511 CT12.1;CT12.1E;CTP9;GAGED2;XAGE-1;XAGE1A;XAGE1B;XAGE1C;XAGE1D CT12.1;G antigen family D member 2;OTTHUMP00000023316;OTTHUMP00000042369;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1e;cancer/testis associated protein;protein XAGE-1 APPROVED protein-coding ENSG00000204375 18372 300745 REVIEWED 1323344 WWP1 WW domain containing E3 ubiquitin protein ligase 1 WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008] 8 8 q21 87424110 87549297 + 87354994 87480181 + 1580863;2302550;6480464;6484113;6907045 17726579 9647693;9169421;12450395;12535537;19307600;19267401;19047365;19035836;18806757;18724389;17609263;17330240;17081983;17016436;16924229;16785210;16713569;16223724;16189514;15489334;15359284;15231748;15221015;12477932;11779188;11375995;11230166;9753456;8889548;14556380;22087225;20951678;19447967;19561640;19580544;20211142;21048031;22629406;21191027;15003522;23293026;17013377;21487105;15161933;19343052;19366705;19765186;21532586;21996799;22045023;21795702;21890473;21906983;20694673;12223491;15163754;16728642;22773947;21480222;22051607;22379092;22266093;22948661 11059 H0YBA4;H0YBS9;Q9H0M0 ABBA01037359;ABBA01037360;ABBA01037361;ABBA01037362;AC083845;AC103760;AC103817;AK292800;AK310683;AL050082;AL136739;AMYH01018858;AMYH01018859;AW137654;AY043361;AY345857;BC015380;BC036065;BM664090;CH471060;NM_007013;U96113 AAC51324;AAH15380;AAH36065;AAK94668;AAQ22764;ACE86844;ACE87531;BAF85489;CAB66673;EAW91634;EAW91635;EAW91636;EAW91637;NP_008944;Q9H0M0 Hs.655189 1648149;1673120;1717053;1846645;1854765;1856819 RH124031;RH17838;SGC38286;SHGC-58053;SHGC-77138;STS-H20821 AIP5;DKFZp434D2111;Tiul1;hSDRP1 NEDD4-like E3 ubiquitin-protein ligase WWP1;Nedd-4-like ubiquitin-protein ligase;OTTHUMP00000224542;TGIF-interacting ubiquitin ligase 1;WW domain-containing protein 1;atrophin-1 interacting protein 5;atrophin-1-interacting protein 5 APPROVED protein-coding ENSG00000123124 17004 03811 602307 VALIDATED 1349820 WWTR1 WW domain containing transcription regulator 1 3 3 q23-q24 150720722 150858472 - 149235022 149421060 - 1580863;6480464 11118213;18029348;18568018;18413727;18374411;17927494;16189514;16099986;15489334;15096513;14970209;14702039;12477932;19324876;19324877;19538860;19542741;20936779;20164440;20850437;16300735;16344560;18227151;19010321;19948975;20049872;21131195;21584898;23022380;20858893;20972459;21189257;21224387;21349946;21654799;22078877;22190458;22045023;22108137;22429593;22470139;22234184;22692215;16964398;22481233;22717556;22825057;22895435;23026745;23245942;23258147;21555462 25937 C9J038;C9J337;C9J588;C9JQS8;C9JR84;H7C4Q0;H7C4Z7;Q9GZV5 ABBA01058941;ABBA01058942;ABBA01058943;AC012014;AC108672;AJ299431;AK022036;AK025216;AK127620;AK130514;AL050107;AL833852;AMYH01013571;BC014052;CH471052;DA338432;DA760311;DA854089;NM_001168278;NM_001168280;NM_015472 AAH14052;ABM84304;ABM87698;BAB13957;CAB43275;CAC17722;CAD38711;EAW78868;EAW78869;NP_001161750;NP_001161752;NP_056287;Q9GZV5 Hs.477921 1651951;1695574;1718675;1719295;1793906;2108555;2133702;2165649;2175421;5022578;5037552 D1S1423;D3S3338;D8S2279;PMC305881P1;RH123028;RH123370;SHGC-53777;SHGC-68770;SHGC-77442;SHGC-77443;TAZ_8018 DKFZp586I1419;FLJ27004;FLJ45718;TAZ OTTHUMP00000215994;OTTHUMP00000215995;OTTHUMP00000215996;OTTHUMP00000216001;WW domain-containing transcription regulator protein 1;transcriptional co-activator with PDZ-binding motif;transcriptional coactivator with PDZ-binding motif protein-coding ENSG00000018408 24042 09580 607392 VALIDATED 1320797 WWP2 WW domain containing E3 ubiquitin protein ligase 2 This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012] 16 16 q22.1 68353775 68533144 + 69796187 69975644 + 6480464;6907045 9647693;9169421;12450395;18570872;16964243;16713569;16189514;15548568;15489334;15252135;15231748;12477932;12167593;11748237;9595660;11244092;11046148;16344560;21750408;22387393;22427670;15047715;17719543;18776082;19158374;19274063;19651900;20379614;22939629;23236378;21258410;21532586;17526739;19144635;21847096;18729074;21139048;21890473;17289006;19307600;22773947;15717329;19343052;19366705;20522958;21191027;21555855;21956701;21145461;22315426;23146381;21572392;22496338;22948661 11060 B4DHF6;H3BPJ8;H3BRX8;H3BS79;Q96CZ2 ABBA01025540;ABBA01025541;ABBA01025542;ABBA01025543;ABBA01025544;ABBA01025545;ABBA01025546;ABBA01025547;AC026468;AC092115;AI494370;AI635734;AJ001982;AK126332;AK295070;AK295701;AK300266;AK312792;AK316097;AL527115;AL583085;AMYH01007770;AMYH01007771;BC000108;BC013645;BC064531;BQ183829;BU167468;BX372347;CH471092;DB288556;DC402912;JN712744;NM_001270453;NM_001270454;NM_001270455;NM_007014;NM_199424;U96114 AAC51325;AAH00108;AAH13645;AAH64531;ABM82100;ABM85282;AFK29253;BAC86528;BAG35653;BAG58117;BAG58549;BAG62027;BAH14468;EAW83287;EAW83288;EAW83289;NP_001257382;NP_001257383;NP_001257384;NP_008945;NP_955456;O00308 Hs.408458 1340159;1779682;2185672;2187565;2187809 D16S3095;G69462;RH68624;RH69974;SHGC-153661 AIP2;WWp2-like NEDD4-like E3 ubiquitin-protein ligase WWP2;Nedd-4-like ubiquitin-protein ligase;OTTHUMP00000174895;WW domain-containing protein 2;atrophin-1 interacting protein 2;atrophin-1-interacting protein 2 APPROVED protein-coding ENSG00000198373 16804 03812 602308 REVIEWED 1606793 XAF1 XIAP associated factor 1 This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] 17 17 p13.1 6599880 6619690 + 6659156 6678966 + 6480464 19358264;19056926;18979398;18830757;18362468;18192275;18035482;17613533;17570219;17471152;17449173;17376236;17087954;16909101;16801630;16459719;16353137;16343440;16303760;15610524;14702039;14612497;12477932;12107411;12029096;11175744;11087668;17331366;17884799;18250043;18555708;19397802;19628579;19664236;19847196;19922503;20198350;21143993;19731821;21832049;22759793;19549372;21678496;22088514;22719195;22811387;23207547;23645777 54739 B3KPW1;C9J7Z8;C9K044;I3L2B3;I3L3B3;I3L3D9;I3L3Q2;I3L509;I3L534;Q99982 ABBA01054838;AC034305;AK056908;AK091799;AK290276;AK292710;AK292848;AMYH01008061;BC032776;BC058017;BC073156;BM153640;BM459605;BM475564;BQ639060;BX648588;BX649188;CH471108;EF028165;EF028166;NM_017523;NM_199139;NR_046396;NR_046397;NR_046398;X99699 AAH32776;AAH73156;ABM74556;ABM74557;BAF82965;BAF85399;BAF85537;BAG51823;CAA68030;CAE46206;EAW90287;EAW90288;EAW90289;EAW90290;EAW90291;NP_059993;NP_954590;Q6GPH4 Hs.441975 1660238;5015961;5018953;5022450;5037552;5124034 D10S275;D15S1477;D8S2279;G42236;RH48221;RH71308 BIRC4BP;HSXIAPAF1;XIAPAF1 BIRC4 binding protein;BIRC4-binding protein;XIAP-associated factor 1 APPROVED protein-coding ENSG00000132530 30932 06978 606717 VALIDATED 2306250 XAGE2B X antigen family, member 2B X X p11.22 52128793 52135541 + 52113158 52118734 + 11181995;10197611;11992404;15489334;15772651;16189514 728242 Q96GT9 AC231532;AJ318880;AL953874;AX359705;BC009232;BC066311;CH471230;NM_001079538 AAH09232;AAH66311;CAC83007;CAD23342;CAI41681;EAW62883;EAW62884;NP_001073006;Q96GT9 Hs.522654 1857119 RH68333 XAGE-2;XAGE2 CT12.2;G antigen family D member 3;OTTHUMP00000023310;X antigen family member 2;X antigen family, member 2-like;cancer/testis antigen 12.2;protein XAGE-2 protein-coding 30680 VALIDATED 1352765 XBP1P1 X-box binding protein 1 pseudogene 1 5 5 5 q22.2 108166391 108167931 + 112248636 112250376 + 112220838 112222378 + 10801852;1718857;14706819;12080057 7495 ABBA01069051;AC008536;AMYH01015548;NG_003037 XBP;XBP1;XBPP1 APPROVED pseudo 12802 INFERRED 1349076 XBX1 xylan 1,4-beta-xylosidase 1 p36.3 1580863 9653645 7496 O76044 U88969 AAC34952;O76044 protein-coding 12803 1353439 XCE X chromosome controlling element 5480753;8118102 7497 12804 300074;300087;615065 1353781 XAGE5 X antigen family, member 5 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008] X X X p11.22 56663775 56669869 + 52857953 52864047 + 52841228 52847322 + 737633 12477932 15772651;15489334;11992404 170627 Q3SY49;Q8WWM1 ABBA01056333;AC244505;AJ318894;AL445236;AMYH01022401;BC069129;BC103962;BC103963;BC103964;CH471283;NM_130775 AAH69129;AAI03963;CAC83015;CAI41618;EAW57550;EAW57551;NP_570131;Q8WWM1 Hs.356874 CT12.5;GAGED5;MGC119799;MGC119800;XAGE-5 G antigen family D member 5;G antigen, family D, 5;OTTHUMP00000023321;X antigen family member 5;cancer/testis antigen 12.5;cancer/testis antigen family 12, member 5;protein XAGE-5 APPROVED protein-coding ENSG00000171405 30930 06754 REVIEWED 1342496 XAB2 XPA binding protein 2 19 19 19 p13.2 7555595 7565623 - 7590411 7600439 - 7684411 7694439 - 1580863;6480464;6907045;7246919 22824526 21145461;10944529;11313499;17981804;16189514;15498874;15489334;15231748;14702039;12477932;12421765;11991638;10574461;20522537;22939629;20508642;17289029;19471022;20360068;21890473;21906983;22446626;22586326;16916636;21628590;21252943;22505724 56949 F5H315;Q9HCS7 AB026111;AB033003;ABBA01010894;AC008763;AF226051;AF258567;AF272147;AF547265;AK025858;AK074035;AMYH01009410;BC007208;BC008778;CH471139;CR749864;NM_020196 AAF86951;AAG23770;AAH07208;AAH08778;AAN17847;AAQ14304;ABM84113;ABM87507;BAA86491;BAB15807;BAB84861;CAH18708;EAW69022;EAW69023;EAW69024;NP_064581;Q9HCS7 Hs.9822 1734678 D19S684E DKFZp762C1015;HCNP;HCRN;NTC90;SYF1 SYF1 homolog, RNA splicing factor;XPA-binding protein 2;crn-related protein kim1;pre-mRNA-splicing factor SYF1 protein-coding ENSG00000076924 14089 18306 610850 VALIDATED 1350959 XAGE2 X antigen family, member 2 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008] X X X p11.22 55607877 55614622 - 52397076 52403821 - 52112078 52118823 + 6480464 16189514;15772651;15489334;12477932;11992404;10197611;21044950 9502 Q96GT9 ABBA01048028;ABBA01048029;AC231532;AC231759;AJ318880;AJ318891;BC009232;BC066311;BX293536;NM_130777 AAH09232;AAH66311;ABM84073;ABM87441;CAC83007;CAC88125;NP_570133;Q96GT9 Hs.522654 1857119 RH68333 CT12.2;GAGED3;XAGE-2;XAGE2B G antigen family D member 3;G antigen, family D, 3;OTTHUMP00000023313;X antigen family member 2;cancer/testis antigen 12.2;cancer/testis antigen family 12, member 2;protein XAGE-2 APPROVED protein-coding ENSG00000155622 4112 02332 300416 REVIEWED 1642398 XAGE1D X antigen family, member 1D This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010] X X p11.22 52544884 52550020 - 52528159 52533303 - 6480464 17335148;16061866;15800911;15772651;15489334;12479262;12477932;11992404;11774264;10987281;10197611;14696120;14747957;15905609;16468707;16715135;17332921;17666327;17704638;18045611;18752338;19498007;20704819;22990118;18803763;21305256;21413013;21139048;23000965 9503 Q9HD64 ABBA01146537;AF251237;AJ290447;AJ318878;AJ318879;AL772246;BC009538;BT007099;CS134502;NG_029951;NM_020411;NM_133430;NR_033256 AAG01401;AAH09538;AAI60078;AAP35763;CAC38107;CAC82986;CAC82987;CAI41530;CAI41531;CAJ21131;NP_065144;NP_597673;Q9HD64 Hs.112208;Hs.584511 CT12.1;CT12.1d;CTP9;XAGE1A;XAGE1B;XAGE1C;XAGE1E CT12.1;G antigen family D member 2;OTTHUMP00000023315;OTTHUMP00000218307;X antigen family member 1;cancer/testis antigen 12.1;cancer/testis antigen family 12, member 1d;cancer/testis associated protein;protein XAGE-1 APPROVED protein-coding ENSG00000204376 21508 02241 300289 REVIEWED 1348257 XAGE3 X antigen family, member 3 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008] X X X p11.22 56714096 56719656 - 52908282 52913824 - 52891557 52897119 - 17207965;15772651;15498874;15489334;12477932;11992404;10197611;23275563 170626 Q8WTP9 ABBA01056339;ABBA01056340;AC234031;AC244505;AF318372;AJ318881;AJ318893;AL445236;AMYH01022402;BC062680;CH471283;NM_130776;NM_133179 AAH62680;AAL55879;ADQ32023;CAC83008;CAC83014;CAI41615;EAW57548;EAW57549;NP_570132;NP_573440;Q8WTP9 Hs.43879 5020482 STS-N32547 CT12.3a;CT12.3b;GAGED4;MGC71925;PLAC6;XAGE-3;pp9012 CT12.3;G antigen family D member 4;G antigen, family D, 4;OTTHUMP00000023319;OTTHUMP00000023320;X antigen family member 3;cancer/testis antigen 12.3;cancer/testis antigen family 12, member 3a;cancer/testis antigen family 12, member 3b;placenta-specific 6;placenta-specific gene 6 protein;protein XAGE-3 APPROVED protein-coding ENSG00000171402 14618 06676 300740 REVIEWED 1348452 XDH xanthine dehydrogenase Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The enzyme is a homodimer. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jul 2008] 2 2 p23.1 31410692 31491115 - 31557188 31637611 - 1624377;1580863;5135059;6480464;6907045;7240710;7247633;7247638;7247655;7247657;7247699;7247637;7247639;7247641;7247647;7247642;7247644;7247645;7247643;7247648;7247651;7247636;7247700;7247656;7247630;7247631;7247654;7247653;7247695;7247701;7247640;7247697;7247698;7247649;7247650 9153281;179860;23137955;22856880;18629585;17697859;23751350;22995295;22690247;22571266;20087949;22436129;22302365;21719783;22350467;19751566;19458127;23024809;23403765;18539378;23746952;23192770;18712049;18728266;20616412;14728722;22622455;23843977;23769121;19667249;19628223 8224915;8670112;18840375;18823306;18821156;18818408;18775690;18772145;18767115;18678861;18649358;18635756;18569334;18386220;18300946;17906999;17622935;17523077;17301077;17081983;16935971;16758302;15451061;14761964;12774669;12637268;12456835;12168784;12080414;11993848;11960915;11034305;10968141;9388748;9023782;8829220;8661045;8373410;8135849;7956361;7956358;7829092;7575623;19196876;19423540;19500084;19505917;19531472;19539448;19567609;19628957;19693777;19898482;20346360;20406964;20438785;21382276;19765958;20930425;21059659;22029190;22105431;20360068;20570389;21775420;22678977;21826556;22981351;23340314;21150319;23249873;21139048;22044687;21963464;22168506;22266962;22318606;23251661;22495427;21644044 7498 P47989;Q9UH91 ABBA01074853;ABBA01074854;ABBA01074855;AC010743;AF203979;AK130114;AL121654;AL121657;AMYH01010220;CH471053;CV574002;D11456;DQ089481;FB789768;FB794693;FB798940;FB811711;FB848246;FB866508;FB885374;FB890761;FB896521;GN364796;HB659827;HB664752;HB668999;HB681770;HB718305;HB736567;HB755433;HB760820;HB766580;NG_008871;NM_000379;U06117;U39487 AAA75287;AAB08399;AAF15890;AAI66696;AAX76512;AAY68219;BAA02013;CAW36700;CAW39049;CAW41215;CAW47231;CAW63651;CAW71881;CAW80373;CAW82865;CAW86283;CAY77138;CBC02653;CBC04906;CBC06866;CBC13019;CBC45853;CBC62270;CBC79202;CBC84152;CBC89109;EAX00479;NP_000370;P47989 Hs.250 1339200;1773600;1787798;2107775;2150985;5014051;5022200;5491820 D2S2203;D8S2278;L18426;SHGC-12567;SHGC-173237;WI-11213;XDH;XDH_7904 XO;XOR OTTHUMP00000125231;xanthene dehydrogenase;xanthine dehydrogenase/oxidase;xanthine oxidase;xanthine oxidoreductase APPROVED protein-coding ENSG00000158125 12805 06363 278300;607633 REVIEWED 1602009 XGPY Xg pseudogene, Y-linked Y Y q11.21 13061852 13129380 - 14596279 14619150 - 12815422;7633446 7500 ABBA01065642;ABBA01065643;ABBA01065644;AC004617;NG_005784 1746049;2123497;2135669;2166537;2166539;2188099;5021816;5115936;5115938;5116244;5116278;5116306 DXYF134S1;DYS148;DYS389;G49201;G66055;SHGC-12992;sY1743;sY1744;sY2841;sY2864;sY2884;sY2885 XGPY1 pseudo 12807 INFERRED 2292082 XGPY2 Xg pseudogene, Y-linked 2 Y Y Y p11.31 6950786 6973473 + 2680337 2703037 + 2620337 2643037 + 8054981;7633446 100132596 AC006209;NR_003254;Z48518;Z48519 Hs.179675 2166537;2188099 DXYF134S1;G66055 XG;XGPY pseudo 34022 PROVISIONAL 1353420 XGR expression of XG and MIC2 on erythrocytes 7501 12808 489500 1350745 XIC X chromosome inactivation center 6198418;1985270 7502 12809 300087 1350360 XCL1 chemokine (C motif) ligand 1 This gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Nov 2010] 1 1 q23 166812480 166817939 + 168545711 168551315 + 1580863;6480464 7602097;19074885;19064610;18838386;18832695;18364395;18322986;17077010;16923584;16710414;15489334;14734774;14707146;14568926;12847680;12477932;12393716;12053063;11889129;11683588;11601972;11446740;11303872;11154210;11083865;10887101;10433555;9632725;9199871;9079718;9029087;8977329;8849694;7973732;7875320;7615002;11878903;15857508;20541533;17903295;19536175;19797511;20237496;21270681 6375 P47992 ABBA01047231;AL031736;AMYH01001488;BC069817;BC070309;BF433809;CH471067;D43768;D63790;NM_002995;U23772;X86474 AAC50164;AAH69817;AAH70309;BAA07825;BAA09859;CAA60198;EAW90828;NP_002986;P47992 Hs.546295 1680525;1706968;1797042;2134263 RH91674;SHGC-35495;SHGC-80982;XCL1_1110 ATAC;LPTN;LTN;SCM-1;SCM-1a;SCM1;SCM1A;SCYC1 OTTHUMP00000032498;SCM-1-alpha;XC chemokine ligand 1;c motif chemokine 1;cytokine SCM-1;lymphotactin;lymphotaxin;single cysteine motif 1a;small inducible cytokine subfamily C, member 1 (lymphotactin);small-inducible cytokine C1 APPROVED protein-coding ENSG00000143184 10645 02595 600250 REVIEWED 1349793 XG Xg blood group This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] X X X p22.33 6950542 7014968 + 2680115 2743968 + 2670093 2734541 + 1580863;6480464 8054981;18789743;12477932;10941840;10688843;7533029;6482910;3007328;7633446 7499 B4E289;E5RH28;P55808 ABBA01038609;ABBA01038610;ABBA01038611;ABBA01038612;ABBA01038613;AC006209;AC138085;AF380356;AF534880;AK304164;AMYH01022014;BC100764;BC100765;BC100766;BC100767;BX098030;BX379565;CH471074;NG_011627;NM_001141919;NM_001141920;NM_175569;Z48517 AAI00765;AAI00766;AAI00767;AAI00768;AAL04055;AAN03481;BAG65051;EAW98701;EAW98702;EAW98703;NP_001135391;NP_001135392;NP_780778;P55808 Hs.179675 1694736;1702378;1702386;1719669;2109003;2156351 G18194;G43566;GDB:293911;GDB:453371;RH123526;XG_8728 MGC118758;MGC118759;MGC118760;MGC118761;PBDX OTTHUMP00000022846;OTTHUMP00000225758;OTTHUMP00000225759;XG glycoprotein;glycoprotein Xg APPROVED protein-coding ENSG00000124343 12806 02443 300879 REVIEWED 6481356 XIRP2-AS1 XIRP2 antisense RNA 1 100874011 AC108494 APPROVED miscrna 40679 1354104 XCL2 chemokine (C motif) ligand 2 1 1 1 q24.2 141619816 141623048 - 166776627 166779859 - 168510003 168513235 - 1580863;6480464 7875320;18618175;17763208;16710414;15489334;15340161;12477932;9632725;8849694;16754659;11181995 6846 Q9UBD3 ABBA01047231;AL031736;AMYH01001488;BC069360;BC070308;BE218461;CD521967;CH471067;D63789;NM_003175 AAH69360;AAH70308;BAA09858;EAW90827;NP_003166;Q9UBD3 Hs.458346 1680525;2134263 RH91674;SHGC-35495 SCM-1b;SCM1B;SCYC2 OTTHUMP00000032499;XC chemokine ligand 2;c motif chemokine 2;cytokine SCM-1 beta;small inducible cytokine subfamily C, member 2 protein-coding ENSG00000143185 10646 05317 604828 VALIDATED 1352787 XBP1 X-box binding protein 1 This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008] 22 22 q12.1 27520548 27526560 - 29190548 29196560 - 1580863;2326004;6480464;6484113;6907045;7240710 15486293 17928342;17906960;17898050;17884689;17660348;17442311;17418411;17092596;17034899;17026957;16958950;16461360;16381901;16342282;16154272;16002735;15936534;15927087;15892135;15882996;15598891;15489336;15489334;15461802;15380296;15351732;15331160;15298659;15184063;15149721;15063770;14702039;14634507;14576841;12954762;12949534;12805554;1718857;2321018;19470730;19435892;19420237;19416856;19412428;19403667;19389935;19380033;19321437;19265690;19176362;19154631;19122331;18840627;18840095;18775308;18676680;18635891;18552212;18417469;18386815;18192112;18082745;17932454;12713871;12586069;12477932;12067985;11813207;11779464;11076863;10652269;10591208;9563853;8657566;8349596;2196176;1903538;16009131;20421453;11256614;18191223;18583979;19170196;19237300;19530237;19543371;19564049;19622636;19625176;19669932;19692168;19722195;19735688;19751410;19941857;19958799;20688044;20368688;20211142;21085187;20013084;20170659;20955178;21050047;21233347;22679299;20980528;21129256;21129257;21423203;21138464;21061914;21138840;21385877;22644804;22669460;22002058;21924241;16645094;21858728;21660045;19471022;22427205;22445760;21693764;21906983;22370484;22469468;23470653;2366175;23184933;22960999;21963094;19009018;22505724;22787145;22925926 7494 B1AHH1;B1AHH2;P17861 AB076383;AB076384;ABBA01055242;AK093842;AK292188;AK313761;AMYH01012692;BC000938;BC012841;BC015709;BI545390;CH471095;CR456611;L13850;M31627;NG_012266;NM_001079539;NM_005080;X55543;Z93930 AAA36031;AAH00938;AAH12841;AAH15709;ABM81915;ABM85091;BAB82981;BAB82982;BAF84877;CAA39149;CAG30497;CAK54638;CAK54937;CAL38516;EAW59763;EAW59764;EAW59765;NP_001073007;NP_005071;P17861 Hs.437638 1668946;1685403;1700564;2155934;2179338;2219758 D22S1031;DXS9738;RH103903;RH27882;STS-M31627;XBP1_3218 TREB5;XBP-1;XBP2 OTTHUMP00000199111;OTTHUMP00000199113;OTTHUMP00000199114;X-box-binding protein 1;XBP-1;tax-responsive element-binding protein 5 2315442 GLUCO141_H APPROVED protein-coding ENSG00000100219 12801 01908 194355;612371 REVIEWED 1322962 XCR1 chemokine (C motif) receptor 1 The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] 3 3 p21.3 46037295 46043983 - 46062291 46068979 - 1580863;6480464 10679309;9632725;18426556;17403668;17135764;15777643;15489334;12477932;11446740;10702689;10400311;7832990;7683036;20541533;20237496;20479115;20479118;16754659;21411777;21514207;21948982;22964431 2829 P46094;Q502V0;Q689E2 AB189434;AB189435;ABBA01024719;AC099782;AC133140;AK314277;AMYH01013130;AY275469;BC069075;BC069589;BC095533;CH471055;L36149;NM_001024644;NM_005283 AAA62837;AAH69075;AAH69589;AAH95533;AAP32301;BAD38891;BAD38892;BAG36937;EAW64755;NP_001019815;NP_005274;P46094 Hs.248116 1655813;1660610;1735260;1792064;5492383 D3S2919E;D3S3411;PMC135988P13;SHGC-76898;UniSTS:480894 CCXCR1;GPR5 G protein-coupled receptor 5;G-protein coupled receptor 5;OTTHUMP00000164652;OTTHUMP00000209999;XC chemokine receptor 1;chemokine (C motif) XC receptor 1;chemokine XC receptor 1;lymphotactin receptor APPROVED protein-coding ENSG00000173578 1625 02774 600552 REVIEWED 1353468 XIST X inactive specific transcript (non-protein coding) X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012] X X q13.2 72957220 72989313 - 73040486 73072588 - 6480464 16751776;18854511;17545591;17537922;17333237;16769694;15731119;14702039;12629412;12072569;10723727;9354806;9185579;9069284;8636206;2034279;1985270;1985261;1423611;15065664;12419249;19440381;19704020;19812237;20052282;20211024;2612213;9239711;9245976;9245982;21212949;22375145;21765457;21820484;22386265 7503 ABBA01059637;ABBA01059638;ABBA01059639;ABBA01059640;ABBA01059641;AI640908;AK025198;AK054860;AK295558;AL353804;AMYH01022611;BX648323;CR749383;DQ583411;M97168;NG_016172;NR_001564;X56196;X56197;X56198;X56199 Hs.529901;Hs.655450 1700636;1702488;1742043;1744455;1775022;1793604;1793606;1793608;1793610;1793612;1793614;1793616;2118761;2138767;2141630;2141963;2141965;2178309;2182034;2182036;7184007 1206;A006G16;A006J28;DXS9733;G20784;G20873;GDB:190003;GDB:265297;GDB:454788;PMC24149P11;PMC24149P12;PMC24149P13;PMC24149P14;PMC24149P15;PMC24149P16;PMC24149P17;RH103941;RH16556;RH18196;RH47941 DKFZp779P0129;DXS1089;DXS399E;LINC00001;NCRNA00001;SXI1;XCE;XIC;swd66 APPROVED miscrna ENSG00000229807 12810 300087;314670 REVIEWED 1604445 XKR5 XK, Kell blood group complex subunit-related family, member 5 8 8 8 p23.1 6643512 6670635 - 6653448 6680447 - 6666038 6693166 - 6480464 12975309 389610 Q6UX68 ABBA01007052;ABBA01007053;ABBA01007054;ABBA01007055;AF233439;AMYH01018300;AY358489;AY534242;AY534243;CH471153;NM_207411 AAQ88853;AAT07091;AAT07092;EAW80479;EAW80480;NP_997294;Q6UX68 Hs.558840 1696776;2189901;5015861;7185938 99-12956;D10S16;SHGC-77969 HARL2754;UNQ2754;XRG5BM;XRG5a;XRG5b HARL2754;X Kell blood group precursor-related family, member 5;XK-related protein 5;XK-related protein 5a protein-coding 20782 18308 VALIDATED 1606184 XKR4 XK, Kell blood group complex subunit-related family, member 4 8 8 8 q12.1 52005765 52428770 + 56177571 56601268 + 56015017 56438714 + 6480464 22610502;18521090;11572484;19573479;20379614;20607790 114786 Q5GH76 AB067476;ABBA01041746;ABBA01041747;ABBA01041748;AC022679;AC090200;AC103716;AC103953;AF165144;AMYH01018729;AMYH01018730;AMYH01018731;AY534241;NM_052898 AAI56156;AAT07090;BAB67782;NP_443130;Q5GH76 Hs.130197 1336603;1662578;1673900;1685632;1690083;1703770;1716307;1716605;1719697;1779280;1786550;1786888;1849305;2173072;2173074;2177312;2177909 A005A23;D8S165;D8S1997;D8S2002;D8S2332;G20264;RH121183;RH121648;RH123537;RH47520;RH98439;SHGC-111478;SHGC-153278;SHGC-5783;SHGC-83208;SHGC-89410;STS-T23637 KIAA1889;XRG4 OTTHUMP00000226372;X Kell blood group precursor-related family, member 4;XK-related protein 4 protein-coding ENSG00000206579 29394 17228 PROVISIONAL 1605535 XKR7 XK, Kell blood group complex subunit-related family, member 7 20 20 20 q11.21 27312161 27342614 + 30019466 30049917 + 30555805 30586256 + 6480464 11780052 343702 Q5GH72 ABBA01019287;AL031658;AMYH01011831;AMYH01011832;AMYH01011833;AY534245;CH471077;NM_001011718 AAT07094;EAW76398;NP_001011718;Q5GH72 Hs.666444 1338438;1340535 D20S863;D20S872 C20orf159;dJ310O13.4 OTTHUMP00000030573;X Kell blood group precursor-related family, member 7;XK-related protein 7 protein-coding ENSG00000101321 23062 17359 PROVISIONAL 1312413 XIRP1 xin actin-binding repeat containing 1 3 3 3 p22.2 39166370 39175740 - 39199711 39209081 - 39224706 39234085 - 6480464 19151983;16631741;15454575;14702039;12477932;12203715;10021346;18029348;20657180 165904 Q8N904 ABBA01024810;AC092053;AJ271461;AJ626899;AJ626900;AK095941;AK096421;AK122723;AK126299;AL713648;AL831956;AL832020;AL832459;AMYH01013098;AY375160;BC127119;BC139782;BX648565;CH471055;CR749430;NM_001198621;NM_194293 AAI27120;AAI39783;AAI72374;AAQ64003;BAC04655;BAC04783;BAC86519;BAG53689;CAC81057;CAD28459;CAF25191;CAF25192;CAH18268;EAW64572;EAW64573;EAW64574;NP_001185550;NP_919269;Q702N8 Hs.447868;Hs.737550 1334555;1680347;1735152;1735170;2218390 CMYA1_4597;D3S2809E;D3S2819E;D3S3593;RH92668 CMYA1;DKFZp451D042;DKFZp779C1255;DKFZp779C1947;Xin OTTHUMP00000161971;OTTHUMP00000208992;OTTHUMP00000209004;cardiomyopathy associated 1;cardiomyopathy-associated protein 1;xin actin-binding repeat-containing protein 1 protein-coding ENSG00000168334 14301 16727 609777 PROVISIONAL 1321790 XKR6 XK, Kell blood group complex subunit-related family, member 6 8 8 8 p23.1 9881570 10186826 - 10791064 11096285 - 10753654 11058875 - 737633;6480464 12477932 19060906;15489334;11896452;11181995;14702039;20160193;20962850;20972250;21060863;20686565;19322201 286046 H0YEU9;H7BYF9;Q5GH73;Q96KT3 AB073660;ABBA01026883;ABBA01026884;ABBA01026885;ABBA01026886;AC011008;AC105107;AC105108;AF131215;AJ301560;AJ305312;AK056119;AMYH01018478;AMYH01018479;AY534244;BC024146;CH471157;NM_173683 AAH24146;AAT07093;CAC82736;CAC83680;EAW65599;EAW65601;EAW65605;NP_775954;Q5GH73 Hs.657083;Hs.665456;Hs.666146 1335747;1337321;1340559;1757239;1774547;2138645;2159766;2179358;5023095;7184036 D8S1755;D8S376;D8S415;D8S550;RH67953;SHGC-144660;SHGC-52603;SHGC-59893;XKR6 C8orf21;C8orf5;C8orf7;FLJ31557;XRG6 OTTHUMP00000229688;Transmembrane protein C8orf5;X Kell blood group precursor-related family, member 6;XK-related protein 6;chromosome 8 open reading frame 21 protein-coding ENSG00000171044 27806 12926 PROVISIONAL 1347436 XIRP2 xin actin-binding repeat containing 2 2 2 2 q24.3 161368680 161725410 + 167468221 167824509 + 167744997 168116263 + 6480464 17046827;16344560;16205742;15454575;14702039;14687087;12477932;12203715;20562859;20379614;20520587;22145905 129446 J3KNB1;Q86TB6 AA665183;ABBA01004934;ABBA01004935;ABBA01004936;ABBA01004937;ABBA01004938;ABBA01004939;ABBA01004940;ABBA01004941;ABBA01004942;AC092601;AC093684;AC108494;AC133782;AJ626901;AK056582;AK092683;AK096430;AK096907;AK097519;AK122889;AK123963;AK125495;AL831970;AL831985;AL832011;AL832331;AL832336;AL832360;AL832375;AL832382;AL832452;AL833291;AMYH01011232;AMYH01011233;AMYH01011234;AMYH01011235;AMYH01011236;AY820969;BC016370;BC018673;BC022446;BC022887;BC022888;BC070143;BC107799;BX647448;BX647645;BX647844;BX647845;BX647848;CH471058;DB079087;EF119711;EF119717;EF119718;EF119719;EF119720;EF119721;EF119722;NM_001079810;NM_001199143;NM_001199144;NM_001199145;NM_152381 A4UGR9;AAH18673;AAV87913;AAY24138;ABO69245;ABO69246;ABO69247;ABO69248;ABO69249;ABO69250;ABO69251;BAG53782;CAD38624;CAD89919;CAD89958;CAD91137;CAD91139;CAD91141;CAD91146;CAD91154;CAD91156;CAF25193;EAX11311;NP_001073278;NP_001186072;NP_001186073;NP_001186074;NP_689594 Hs.73680 1334855;1336072;1662238;1666394;1713953;1734768;1761483;1783922;1851055;7186590 D2S1379;D2S1395;D2S1531E;D2S1549E;D2S399;RH119405;RH65349;SHGC-107530;SHGC-145487 CMYA3;DKFZp451G055;DKFZp779G1747;FLJ39111;FLJ40200;MYOMAXIN OTTHUMP00000204894;OTTHUMP00000204895;OTTHUMP00000204896;OTTHUMP00000204897;OTTHUMP00000206012;OTTHUMP00000206013;beta-xin;cardiomyopathy associated 3;cardiomyopathy-associated protein 3;myomaxin;xeplin;xin actin-binding repeat-containing protein 2;xin repeat protein 2 protein-coding ENSG00000163092 14303 10267 609778 VALIDATED 1602431 XKR3 XK, Kell blood group complex subunit-related family, member 3 XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008] 22 22 22 q11.1 886539 924857 - 15644302 15682584 - 17264302 17302584 - 16431037;16344560;14702039;12477932;20560530 150165 Q5GH77 ABBA01001462;AC005301;AC007064;AK098608;AMYH01012421;AY534240;AY989815;BC045548;BC137521;BC137522;BC144679;CH471193;DB046546;HC007170;NM_175878 AAI37522;AAI37523;AAI44680;AAT07089;AAX86010;BAC05352;CBH19390;EAW57723;NP_787074;Q5GH77 Hs.356069 1692750;1733240;2139789 AL034139;D22S580;D22S581 MGC57211;XRG3;XTES OTTHUMP00000184896;X Kell blood group precursor-related family, member 3;XK-related protein 3;expressed in testis;x Kell blood group-related 3 APPROVED protein-coding ENSG00000172967 28778 14692 611674 VALIDATED 1604439 XKR9 XK, Kell blood group complex subunit-related family, member 9 8 8 8 q13.3 67579235 67644725 + 71744154 71810731 + 71581600 71648177 + 6480464 12477932;22504420 389668 E5RFF6;E5RI45;Q5GH70 ABBA01041942;ABBA01041943;AC020987;AC022731;AMYH01018783;AY534247;BC111381;BC137104;BC137105;BC151845;CH471068;NM_001011720 AAI37105;AAI37106;AAT07096;EAW86971;NP_001011720;Q5GH70 Hs.458938 XRG9 OTTHUMP00000226694;OTTHUMP00000226695;X Kell blood group precursor-related family, member 9;XK-related protein 9 protein-coding ENSG00000221947 20937 18309 PROVISIONAL 1604932 XKRYP1 XK, Kell blood group complex subunit-related, Y-linked pseudogene 1 Y Y q11.221 19129086 19130882 + 20669698 20671494 + 12815422;9847074 379028 AC068541;NG_004636 1778178;2188617;2188623 DYS211;G66360;G66364 pseudo 23908 VALIDATED 1604931 XKRYP2 XK, Kell blood group complex subunit-related, Y-linked pseudogene 2 Y Y q11.222 19432072 19433868 - 20972684 20974480 - 12815422;9847074 379029 AC007379;NG_004636 1778178;2188617;2188623;5115888 DYS211;G66360;G66364;sY1168 pseudo 23909 VALIDATED 1604930 XKRYP3 XK, Kell blood group complex subunit-related, Y-linked pseudogene 3 Y Y q11.223 24271222 24273020 - 25861834 25863632 - 12815422;9847074 379030 AC016752;NG_004755 5022999;5115932;5115934;5116270 sY1740;sY1742;sY2835;sY2858 pseudo 23910 VALIDATED 1604929 XKRYP4 XK, Kell blood group complex subunit-related, Y-linked pseudogene 4 Y Y q11.223 24472231 24474029 - 26062843 26064641 - 12815422 379031 AC073649;NG_004755 pseudo 23911 VALIDATED 1604928 XKRYP5 XK, Kell blood group complex subunit-related, Y-linked pseudogene 5 Y Y q11.223 26307152 26308950 + 27897764 27899562 + 12815422;9847074 379032 AC010682;NG_004755 pseudo 23912 VALIDATED 1351512 XK X-linked Kx blood group (McLeod syndrome) This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008] X X p21.1 37430052 37476322 + 37545133 37591383 + 1354522;1580863;6480464;7240710 8004674 9074432;7737196;9647734;17469188;17379193;17302777;17081983;15489334;12823753;12477932;11961232;11761473;11703337;11261514;10849386;10556484;10426139;9784384;9593744;8619554;3358422;1191546;871435;21145924;21463873;19322201;20301528;21988832 7504 P51811;Q2Z218 AB214532;ABBA01047095;ABBA01047096;ABBA01047097;ABBA01047098;ABBA01047099;ABBA01047100;AC233292;AC233297;AL121577;AMYH01022210;AMYH01022211;AY534238;BC036019;CH471141;DQ062746;FB659844;NG_007473;NM_021083;Z32684 AAH36019;AAT07087;AAY43132;BAE48708;CAA83632;CAS01776;EAW59454;NP_066569;P51811 Hs.78919 1704418;1743775;1743777;2117697;2218646;5120724 DXS6997E;GDB:373289;GDB:373292;GDB:373297;SHGC-82907;XK__4911 KX;MCLDS;X1k;XKR1 Kx antigen;OTTHUMP00000031911;XK, Kell blood group complex subunit (McLeod syndrome);XK-related protein 1;kell complex 37 kDa component;membrane transport protein XK APPROVED protein-coding ENSG00000047597 12811 02444 300842;314850 REVIEWED 1342861 XLRL X-linked lymphocyte-regulated-like 1 (mouse) 8535073 7505 12812 1346293 XM Xm(a) antigen 7506 12813 1604927 XKRYP6 XK, Kell blood group complex subunit-related, Y-linked pseudogene 6 Y Y q11.23 26508125 26509922 + 28098737 28100534 + 12815422;9847074 379033 AC007965;NG_004755 5022999;5115932;5115934;5116270 sY1740;sY1742;sY2835;sY2858 pseudo 23913 VALIDATED 1353417 XIAP X-linked inhibitor of apoptosis This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011] X X q25 122821729 122875503 + 122993662 123047829 + 1580863;2314390;2315847;2315848;2315849;2315850;2315851;2315852;2315854;2315853;6480464;6484113;6907045;7240710 17869439;19758744;19563669;19415464;18325467;18259199;17947468;17332931;17350670 20856198;18831009;9230442;11801603;16282325;16887178;19549727;8654366;11257231;19411066;19398375;19369629;19355825;19289587;19273858;19223549;19011619;19001278;18851976;18829553;18820704;18807090;18795889;18767116;18761086;18704457;18703998;18666224;18647593;18645029;18590777;18566024;18560353;18521960;18520160;18467439;18438971;18432259;18415656;18251743;18187663;18071906;18068526;18068114;18041764;18022123;17993464;17967870;17951200;17936246;17724022;17721914;17698078;17630106;17626072;17613533;17611394;17603079;17579071;17534699;17471152;17450518;17440816;17437405;17350081;17339366;17332680;17291493;17287399;17179183;17144666;17094439;17080092;17069460;17050666;17035597;17016456;17008917;16983704;16972754;16964381;16932741;16869888;16868249;16799641;16603637;16543147;16394139;16344307;16343440;16278380;16211302;16142363;15772651;15749826;15677500;15580265;15570290;15531913;15489334;15359644;15337764;15297970;15292176;15282301;15207275;15201285;15173080;15044484;15037009;15029247;14759516;14685242;14645242;14570909;14532997;14523016;14512414;12970762;12865429;12855663;12851723;12835328;12747801;12725530;12691733;12624662;12620238;12592339;12482981;12477932;12388702;12243753;12218061;12121983;12121969;12048196;11972398;11927604;11807766;11604410;11598496;11597143;11546791;11447297;11379817;11359776;11140637;10929712;9878061;9545235;9205126;8938457;8552191;18570872;15280366;12660240;12511567;11175744;19176394;11257232;9384571;11832478;16189514;11390657;11356828;15300255;15353805;15650747;15200957;22584050;22934750;21325798;21367892;20484174;19949310;22333553;22532870;20406946;20670888;11242052;11606597;11803371;15218035;16732928;17318174;17331366;18024305;18049476;19171073;19288545;19393243;19397802;19473982;19506533;19531477;19562673;19615732;19649722;19654940;19667203;19698783;19723899;19726736;19738422;19782107;19787196;19854829;19859091;19875445;19877056;19885569;19897582;19946707;20154138;20171186;20213810;20517649;9525868;20632385;20862799;20406824;16263936;16775419;18022362;20676365;20431038;14685266;20582956;11602612;18755525;20682709;20979872;19763917;20067634;19913121;20515940;20628086;20381828;15178455;20395960;15541727;20712893;20819778;20959405;22815893;19815541;21712378;21119115;21102524;12525502;16344560;20980180;18309651;19670614;21364655;22867709;22939629;20938744;21402697;11865055;16701639;19153467;21653699;21354220;22493164;21628460;21442307;22776562;12021770;21317880;21543760;22696161;22273571;21869827;21113135;22039248;22072751;22185822;21908615;17906618;22505724;22653317;22653319;22683311;21518480;21849505;21903422;21935275;22103349;11583623;15781261;19506082;20932476;21185211;21931591;11257230;22083305;23156805;20972266;21139048;21674762;21890473;21906983;22393046;22403616;22427670;22459568;22607974;15665297;17382285;18414036;21387310;22896709;21535957;20625944;22320973;20301580;15078891;18931663;19322201;19584092;21255191;22194841;15507451;16007220;20957035;22117219;22811387;22825849;16322207;23074197;21963094;22711539;23000965;22886722;20677802;23222509;23190606;23201124;23223428;23259674 331 B1AKU2;B1AKU3;B2R9R2;P98170 ABBA01036394;ABBA01036395;ABBA01036396;ABBA01036397;ABBA01036398;ABBA01036399;ABBA01036400;ABBA01036401;ABBA01036402;ABBA01036403;ABBA01036404;ABBA01036405;ABBA01036406;ABBA01036407;ABBA01036408;ABBA01036409;AK130423;AK309704;AK313883;AL022156;AL121601;AL591583;AMYH01022939;AMYH01022940;AMYH01022941;AMYH01022942;AY886519;BC030771;BC032729;BQ423165;CH471107;DA316362;FB777841;FB777857;H09548;NG_007264;NM_001167;NM_001204401;NR_037916;U32974 AAC50518;AAH32729;AAW62257;ABM81783;ABM84938;BAG36609;CAW32364;CAW32374;EAX11858;EAX11859;EAX11860;EAX11861;NP_001158;NP_001191330;P98170 Hs.356076;Hs.736565 1693764;1702228;1781212;1792296;1792896;1794168;1798962;1801800;1805438;1806736;1811672;1812906;1815382;1816602;1818402;1819430;1821246;1822852;1828840;1829262;1832282;1833172;1834708;1836032;1836318;1836608;1836668;1836960;1837278;1837892;1838292;1838346;1839566;1839752;1840492;1840922;1841732;1844282;1846394;1851965;1853395;1853397;1961428;1961430;1961432;1961434;1961436;1961438;1961440;1961442;1961444;1961446;1961448;1961450;1961452;1961454;1961456;1961458;1961460;1961462;1961464;1961466;1961468;1961470;1961472;1961474;1961476;1961478;1961480;1961482;1961484;1961486;1961488;1961490;1961492;1961494;1961496;1961498;1961500;1961502;1961504;1961506;1961508;1961510;1961512;1961514;1961516;1961518;1961520;1961522;1961524;1961526;1961528;1961530;1961532;1961534;1961536;1961538;1961540;1961542;1961544;1961546;1961548;1961550;1961552;1961554;1961556;1961558;1961560;1961562;1961564;1961566;1961568;1961570;1961572;1961574;1961576;1961578;1961580;1961582;1961584;1961586;1961588;1961590;1961592;1961594;1961596;1961598;1961600;1961602;1961604;1961606;1961608;1961610;1961612;1961614;1961616;1961618;1961620;1961622;1961624;1961626;1961628;1961630;1961632;1961634;1961636;1961638;1961640;1961642;1961644;1961646;1961648;1961650;1961652;1961654;1961656;1961658;1961660;1961662;1961664;1961666;1961668;1961670;1961672;1961674;1961676;1961678;1961680;1961682;1961684;1961686;1961688;1961690;1961692;1961694;1961696;1961698;1961700;1961702;1961704;1961706;1961708;1961710;1961712;1961714;1961716;1961718;1961720;1961722;1961724;1961726;1961728;1961730;1961732;1961734;1961736;1961738;1961740;1961742;1961744;1961746;1961748;1961750;1961752;1961754;1961756;1961758;1961760;1961762;1961764;1961766;1961768;1961770;1961772;1961774;1961776;1961778;1961780;1961782;1961784;1961786;1961788;1961790;1961792;1961794;1961796;1961798;1961800;1961802;1961804;1961806;1961808;1961810;1961812;1961814;1961816;1961818;1961820;1961822;1961824;2159149;2213488;2213490;2213492;2213494;2213496;2213498;2213500;2213502;2213504;2213506;2213508;2213510;2213512;2213514;2213516;2213518;2213520;2213522;2213524;2213526;2213528;2213530;2213532;2213534;2213536;2213538;2213540;2213542;2213544;2213546;2213548;2213550;2213552;2213554;2213556;2213558;2213560;2213562;2213564;2213566;2213568;2213570;5014051;5015619;5015961;5016478;5016700;5020740;5021872;5022200;5022322;5022463;5022578;5022651;5024756;5037552;5095078;5117897 A006G12;AL008894;BIRC4;D11S2560;D11S2921;D11S3114;D15S1477;D1S1423;D3S1673;D8S2278;D8S2279;DXS7864;ECD00323;ECD01781;ECD03666;ECD04326;ECD06840;ECD07467;ECD08727;ECD09343;ECD10259;ECD10782;ECD11700;ECD12514;ECD15547;ECD15760;ECD17279;ECD17728;ECD18502;ECD19177;ECD19321;ECD19468;ECD19498;ECD19644;ECD19806;ECD20116;ECD20320;ECD20347;ECD20966;ECD21059;ECD21433;ECD21654;ECD22065;ECD23355;ECD24417;G20782;GDB:434012;GDB:631813;L17809;L18426;PMC140676P1;PMC166414P3;PMC310799P3;REN51587;REN51588;REN51589;REN51590;REN51591;REN51592;REN51593;REN51594;REN51595;REN51596;REN51597;REN51598;REN51599;REN51600;REN51601;REN51602;REN51603;REN51604;REN51605;REN51606;REN51607;REN51608;REN51609;REN51610;REN51611;REN51612;REN51613;REN51614;REN51615;REN51616;REN51617;REN51618;REN51619;REN51620;REN51621;REN51622;REN51623;REN51624;REN51625;REN51626;REN51627;REN51628;REN51629;REN51630;REN51631;REN51632;REN51633;REN51634;REN51635;REN51636;REN51637;REN51638;REN51639;REN51640;REN51641;REN51642;REN51643;REN51644;REN51645;REN51646;REN51647;REN51648;REN51649;REN51650;REN51651;REN51652;REN51653;REN51654;REN51655;REN51656;REN51657;REN51658;REN51659;REN51660;REN51661;REN51662;REN51663;REN51664;REN51665;REN51666;REN51667;REN51668;REN51669;REN51670;REN51671;REN51672;REN51673;REN51674;REN51675;REN51676;REN51677;REN51678;REN51679;REN51680;REN51681;REN51682;REN51683;REN51684;REN51685;REN51686;REN51687;REN51688;REN51689;REN51690;REN51691;REN51692;REN51693;REN51694;REN51695;REN51696;REN51697;REN51698;REN51699;REN51700;REN51701;REN51702;REN51703;REN51704;REN51705;REN51706;REN51707;REN51708;REN51709;REN51710;REN51711;REN51712;REN51713;REN51714;REN51715;REN51716;REN51717;REN51718;REN51719;REN51720;REN51721;REN51722;REN51723;REN51724;REN51725;REN51726;REN51727;REN51728;REN51729;REN51730;REN51731;REN51732;REN51733;REN51734;REN51735;REN51736;REN51737;REN51738;REN51739;REN51740;REN51741;REN51742;REN51743;REN51744;REN51745;REN51746;REN51747;REN51748;REN51749;REN51750;REN51751;REN51752;REN51753;REN51754;REN51755;REN51756;REN51757;REN51758;REN51759;REN51760;REN51761;REN51762;REN51763;REN51764;REN51765;REN51766;REN51767;REN51768;REN51769;REN51770;REN51771;REN51772;REN51773;REN51774;REN51775;REN51776;REN51777;REN51778;REN51779;REN51780;REN51781;REN51782;REN51783;REN51784;REN51785;RH47562;RH79802;RH80030;SHGC-58836;sY3084;stSG38423;stSG633501;stSG633502;stSG633503;stSG633504;stSG633505;stSG633506;stSG633507;stSG633508;stSG633509;stSG633510;stSG633511;stSG633512;stSG633513;stSG633514;stSG633515;stSG633516;stSG633517;stSG633518;stSG633519;stSG633520;stSG633521;stSG633522;stSG633523;stSG633524;stSG633525;stSG633526;stSG633527;stSG633528;stSG633529;stSG633530;stSG633531;stSG633532;stSG633533;stSG633534;stSG633535;stSG633536;stSG633537;stSG633538;stSG633539;stSG633540;stSG633541;stSG633542 API3;BIRC4;FLJ26913;IAP-3;ILP1;MIHA;XLP2;hIAP-3;hIAP3 E3 ubiquitin-protein ligase XIAP;IAP-3;IAP-like protein;OTTHUMP00000023975;OTTHUMP00000196392;X-linked IAP;X-linked inhibitor of apoptosis protein;apoptosis inhibitor 3;baculoviral IAP repeat-containing protein 4;hIAP-3;hIAP3;inhibitor of apoptosis protein 3 APPROVED protein-coding ENSG00000101966 592 02094 300079;300635 REVIEWED 1345703 XKRX XK, Kell blood group complex subunit-related, X-linked This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010] X X X q22.1 100687232 100702698 - 100055092 100070554 - 100168431 100183898 - 6480464 16431037;15772651;12477932 402415 C9JYI8;Q6PP77 ABBA01064118;ABBA01064119;AI087330;AK296711;AMYH01022723;AY534239;AY589511;BC137010;BC137011;CH471115;NG_021224;NM_212559;Z73417 AAI37011;AAI37012;AAT00456;AAT07088;BAG59304;EAX02827;NP_997724;Q6PP77 Hs.364911;Hs.744465 2106747;2183887 RH44986;XKRX__4912 FLJ60646;XKR2;XPLAC;XRG2 OTTHUMP00000023661;X Kell blood group precursor-related, X-linked;XK-related protein 2;membrane protein XPLAC APPROVED protein-coding ENSG00000182489 29845 11687 300684 REVIEWED 1344352 XKRY XK, Kell blood group complex subunit-related, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008] Y Y Y q11.222 5229495 5231075 - 18390254 18391834 - 19880860 19882440 - 1580863 9381176;12815422;12477932;9647734;20301513 9082 A2RUG3;O14609 ABBA01007791;AC007742;AF000997;BC132883;BC132885;CH471194;NG_004636;NG_032917;NM_004677 A2RUG3;AAC51844;AAI32884;AAI32886;AAI48608;AAI53174;EAW69704;NP_004668;O14609 Hs.158346 2113592;2116623;2188613;2188835;5493963 G34987;G65846;G66358;UniSTS:480532;sY1235 XKRY1;XKRY2 Testis-specific XK-related protein on Y;X Kell blood group precursor-related, Y-linked;testis-specific XK-related protein, Y-linked 2 APPROVED protein-coding 18571 02456 400015 REVIEWED 1602706 XKR8 XK, Kell blood group complex subunit-related family, member 8 1 1 1 p35.3 26682123 26690220 + 28159091 28167191 + 28286504 28294604 + 6480464 16710414;15489334;14702039;12477932 55113 Q9H6D3;Q9NW55 ABBA01035006;ABBA01035007;AK001169;AK026024;AK054909;AK091615;AL512288;AMYH01000425;AY534246;BC003606;BC013379;BC028564;CH471059;CQ834414;CQ834522;NM_018053 AAH03606;AAH13379;AAH28564;AAT07095;BAA91531;BAB15326;CAH05422;CAH05476;EAX07717;EAX07718;EAX07719;EAX07720;NP_060523;Q9H6D3 Hs.55024 2127780 SHGC-56999 FLJ10307;RP11-460I13.3;XRG8 OTTHUMP00000004007;X Kell blood group precursor-related family, member 8;XK-related protein 8 protein-coding ENSG00000158156 25508 07661 PROVISIONAL 1353485 XKRY2 XK, Kell blood group complex subunit-related, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008] Y Y q11.221 18756623 18758403 + 20297335 20298915 + 12815422;12477932;9847074;9381176 353515 A2RUG3 AC024183;BC132901;BC132903;NG_004636;NM_001002906 A2RUG3;AAI32902;AAI32904;AAI41490;AAI48773;NP_001002906 Hs.632286 2113592;2116623;2188613;2188835;5493963 G34987;G65846;G66358;UniSTS:480532;sY1235 XKRYP7 X Kell blood group precursor-related, Y-linked 2;X Kell blood group precursor-related, Y-linked pseudogene 7;XK, Kell blood group complex subunit-related, Y-linked 2;testis-specific XK-related protein, Y-linked 2 APPROVED protein-coding 23922 18603 REVIEWED 1318735 XPA xeroderma pigmentosum, complementation group A This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 9 9 q22.3 99477012 99499512 - 100437191 100459691 - 1331525;1599876;1580863;6480464;6907045;7240710;7246926;7246919 15118671;2234061;19154342;22824526 10946233;17720715;8197175;10583946;10214908;1601884;19434073;19430706;19332728;19270000;19237606;19197159;19177501;19173862;19116388;19074750;19029193;18990748;18990233;18854777;18774935;18711149;18676680;18645534;18585952;18559563;18478970;18442012;18240296;18204222;18035379;17932354;17932351;17913280;17848622;17825393;17765667;17687452;17685459;17653764;17575242;17531525;17379210;17363013;17176115;17078101;17040931;16985021;16979838;16905156;16675950;16613913;16540648;16513681;16507781;16491090;16413230;16393248;16284373;16195237;15882075;15844177;15837542;15746040;15598786;15489334;15471894;15333465;15213713;15095299;12897146;12663511;12486030;12477932;12459522;12390028;12376498;12082027;11972036;11906820;11859086;11081631;11058119;10944529;10888881;10783332;10447254;9698541;9671271;9653453;8999876;8954802;8543191;8504220;8294029;8197174;7876263;7835901;7598728;7565690;1918083;1702221;1372103;1339397;11268218;20651370;20557883;20575039;20644561;20720310;20817763;20731661;20864414;20957144;20981350;19468048;20865363;20574439;16712791;19056823;19170196;19536092;19538122;19586908;19692168;19789190;19878615;19892827;19940136;19954624;20056640;20061190;20232390;20304803;20368362;20391138;20429839;20431719;20453000;20496165;20522537;9013642;20670893;20534089;21148310;22174788;20541997;11259578;12527904;21880556;21866550;22314912;22379092;22941172;23194742;22467238;21611749;22081045;16916636;17154534;20301571;22321329;23152873;23178497;23272099;23251661;19446504;23038248 7507 F2Z2T2;P23025 ABBA01042928;AF503166;AI961077;AL445531;AL531629;AMYH01021555;BC014965;BT019518;CB155090;CH471105;D14533;NG_011642;NM_000380;NR_027302;S89853;U10347;U16815 AAA92883;AAB21861;AAB60404;AAH14965;AAM18969;AAV38325;ABM84550;ABM86349;BAA03403;EAW58855;NP_000371;P23025 Hs.654364 1664525;1673282;1797044;2126125;2166953 D9S1714;RH46402;RH65875;STS-D14533;XPA_1273 XP1;XPAC DNA repair protein complementing XP-A cells;OTTHUMP00000021751;OTTHUMP00000021752;excision repair-controlling;xeroderma pigmentosum group A-complementing protein APPROVED protein-coding ENSG00000136936 12814 02045 278700;611153 REVIEWED 734376 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008] X X q25 128700627 128731206 + 128872946 128903525 + 1580863;6480464 9375790;19178938;18515364;18158172;17003818;16175507;15772651;15489334;15342556;15203218;12477932;10894934;10737800;9765967;9628831;1510698;21052031;20625347;23276181;21898657 7512 O43895;Q5JZ40 ABBA01047834;ABBA01047835;ABBA01047836;ABBA01047837;AF086417;AF195953;AK300954;AL023653;AMYH01022963;AMYH01022964;BC126174;BC143901;BF830085;BP270314;BQ224207;BX386512;CD617070;CH471107;NG_011479;NM_003399;U90724 AAB96394;AAG28480;AAI26175;AAI43902;BAG62582;EAX11827;NP_003390;O43895 Hs.170499 1691638;1743415;2161787;2168891 AL008958;AL032550;GDB:316041;SHGC-57484 APP2 OTTHUMP00000023987;X-Pro aminopeptidase 2;aminoacylproline aminopeptidase;mAmP;membrane-bound APP;membrane-bound AmP;membrane-bound aminopeptidase P;xaa-Pro aminopeptidase 2 APPROVED protein-coding ENSG00000122121 12823 02144 300145 REVIEWED 1313986 XPC xeroderma pigmentosum, complementation group C This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] 3 3 p25 14161648 14195143 - 14186647 14220172 - 1599878;1580863;2317130;6480464;6907045;7240710;7246920;7246919;7246922 8298653;18559563;22572993;22824526;21763452 21192964;18177054;18097734;18089819;18067564;18053706;18035379;17932354;17923445;17913280;17897675;17882560;17825393;17712032;17705814;17685459;17684138;17682058;17657713;17653764;17575242;17531525;17508409;17498315;17438703;17374967;17363013;17325666;17196815;17164382;17164380;17119055;17086695;17081983;17078101;17052994;16985021;16965652;16957781;16858626;16823510;16820684;16794584;16627479;16571649;16537713;16533048;16527807;16510122;16492920;16399771;16393248;16373199;16351803;16284373;16258177;16105547;16086280;16081512;16061005;16043197;16002061;15992842;15964821;15922480;15914210;15886698;15882621;15878910;15863269;15849729;15837542;15746160;15731165;15729698;15700316;15661662;15657918;15623356;15533908;15494739;15489334;15471894;15353127;10873465;15231747;18024891;8168482;17088560;10583946;10214908;19434073;19350405;19270000;19237606;19177501;19124519;19116388;19074885;19027756;18955168;18854777;18838045;18830263;18809580;18785488;18774935;18771913;18709642;18701435;18682493;18676680;18645534;18630471;18574675;18544627;18478970;18320070;18285822;19280628;18270339;18196582;22431748;15302935;15231748;15107491;15010895;14729591;14690560;14688016;12944386;12890685;12815074;12713809;12505994;12496474;12486030;12477932;12242345;12177305;11872635;11279143;11259578;10734143;10447254;9804340;9415314;9164480;8692695;8604333;8125298;8088800;1522891;1461286;9372923;22331493;20488473;12509299;19714462;19941824;20571354;20601096;20658464;20817763;9734359;21338203;20616346;19170196;19478817;19536092;19538122;19609301;19625176;19661089;19692168;19706757;19789190;19805520;19878615;19892827;19902366;19924443;19953607;20054342;20056640;20061190;20106949;20150366;20157331;20193233;20199546;20201926;20232359;20368362;20369554;20377134;20391138;20429839;20453000;20460046;20496165;20522537;20649433;20575039;19059499;19759913;20731661;20887739;21047201;16030353;21123941;18685619;22213216;22939629;21482201;21104992;21149730;21426550;19889839;21113018;21273643;21167810;21327329;20649465;21671483;21689419;20360068;21676658;21733660;21390502;21987572;10488153;21861227;17154534;22039351;22505326;22682619;22166526;22126485;22211393;19471022;21139048;21559836;21693764;21751198;21890473;21906983;21963094;22174370;20301571;22321329;23269608;23381646;23244095;22038723;23143338;21962512;22519360;23000965;22968471;15914671;19446504;22505724;22902050;9372924;23253478;22941172;23751493 7508 E7EUB5;E9PB96;Q01831 ABBA01025161;AC093495;AF261901;AI091587;AK222844;AK289761;AK295711;AK311039;AL710884;AMYH01012996;AY131066;BC016620;CH471055;D21089;EU530522;EU530523;EU530524;EU530525;EU530526;EU530527;EU530529;EU530531;EU530532;EU530533;EU530534;FJ695191;FJ695192;HM113488;NG_011763;NM_001145769;NM_004628;NR_027299;X65024 AAF87574;AAH16620;AAM77801;ACD74563;ACD74564;ACD74565;ACD74566;ACD74567;ACD74568;ACD74569;ACD74570;ACD74571;ACD74572;ACD74573;ADI50189;BAA04651;BAD96564;BAF82450;BAG58555;CAA46158;EAW64188;EAW64189;NP_001139241;NP_004619;Q01831 Hs.475538;Hs.739296 1675141;1731223;1731225;1797046;2173519 D3S1440;D3S1441;RH69460;STS-X65024;XPC_1288 RAD4;XP3;XPCC DNA repair protein complementing XP-C cells;OTTHUMP00000218039;mutant xeroderma pigmentosum group C;p125 APPROVED protein-coding ENSG00000154767 12816 02046 278720;613208 REVIEWED 733430 XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009] 10 10 q25.3 111614514 111673192 - 111624524 111683311 - 6480464 11106490;19126663;15489334;15164054;14702039;12665801;12477932;10871044;9465902;8125298;3141711;1510698;16169070;21052031;16344560;16385451;18515364;20379614;20460270;22863883;23314748;22939629;17043677;21900206;18029348;21139048;21906983;22505724 7511 G8JLB2;Q5T6H2;Q5T6H3;Q5T6H7;Q9NQW7 ABBA01063040;AF195530;AF272981;AK093693;AK095447;AK223513;AK289436;AK295756;AK304367;AL354951;AL833411;AMYH01003059;BC005126;BC007579;BC013417;BX537682;CH471066;CR456922;DA484161;NM_001167604;NM_020383;NR_030724;X95762 AAF75795;AAF97866;AAH05126;AAH07579;AAH13417;ABW03612;ABW03865;BAD97233;BAF82125;BAG52749;BAG58586;BAG65206;CAA65068;CAD38640;CAG33203;CAH18706;EAW49576;EAW49577;NP_001161076;NP_065116;Q9NQW7 Hs.390623 1696674;1727321;2109005;2116257;2123001;2129594 D9S58;G63068;SHGC-83015;STS-W32419;WI-15620;XPNPEP1_8729 APP1;SAMP;XPNPEP;XPNPEPL;XPNPEPL1 OTTHUMP00000020457;OTTHUMP00000020458;X-Pro aminopeptidase 1;X-prolyl aminopeptidase (aminopeptidase P)-like;X-prolyl aminopeptidase 1, soluble;aminoacylproline aminopeptidase;aminopeptidase P, cytosolic;cytosolic aminopeptidase P;soluble aminopeptidase P;xaa-Pro aminopeptidase 1 APPROVED protein-coding ENSG00000108039 12822 03899 602443 REVIEWED 1323777 XPO4 exportin 4 XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009] 13 13 13 q11 2413409 2538856 - 20249468 20374913 - 21351468 21476913 - 1580863;6480464 19322201;10944119;19240061;17353931;17081983;16449645;16344560;15057823;14702039;12477932;11214970;8889548;21332550;22939629;21991335;21532573;21890473;22190034;15282309 64328 F2Z2X4;Q9C0E2 AA418037;AB051508;ABBA01068592;ABBA01068593;AK023108;AK057924;AK129848;AK302760;AL356285;AL512652;AL831819;AMYH01004951;BC042504;BC050680;BC098402;BC113571;BC113573;BQ184183;BX647843;CH471075;DA119417;NM_022459 AAH42504;AAH50680;AAI13572;AAI13574;ADR83437;BAB14409;BAB21812;BAG63971;CAD38533;EAX08281;EAX08282;EAX08283;NP_071904;Q9C0E2 Hs.744023 1649732;1681080;1699190;1708538;1755609;1849681;1849683;1855384;2150353;5014051;5015881;5015961;5022200 A005P28;D13S1691;D15S1477;D8S2278;G20400;G27736;GDB:335751;L18426;RH103175;RH68088;RH91537;SHGC-142462;SHGC-85047 FLJ13046;KIAA1721;exp4 OTTHUMP00000018105;exp4;exportin-4 APPROVED protein-coding ENSG00000132953 17796 18307 611449 VALIDATED 1354083 XPOTP1 exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1 20 20 20 q11.22 29554076 29556674 - 32264862 32267459 - 32801300 32803898 - 170559 ABBA01019210;AL035458;AMYH01011861;NG_001062 XPO3P1;dJ785G19.1 pseudo 16586 INFERRED 1603202 XPNPEP3 X-prolyl aminopeptidase (aminopeptidase P) 3, putative The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011] 22 22 22 q13.2 25056765 25127557 + 39583040 39653829 + 41253085 41328823 + 6480464;7240710 21145461;21628590;18029348;15708373;15489334;15461802;14743216;12477932;10591208;20179356;21068128;15342556;8889548;21139048;21906983;17110338;19287380 63929 B7ZBB4;F2Z316;Q9NQH7 ABBA01055609;ABBA01055610;ABBA01055611;AI446638;AK301635;AK310502;AK313770;AL035450;AL080242;AL365514;AL834310;AMYH01012796;BC001208;BC001681;BC004989;BC005331;BC011632;BC016735;BC023654;BC032537;BC037424;BC045166;BC053556;BM980889;BP346902;BX648018;CH471095;CR456442;CR457396;NG_028221;NM_001204827;NM_022098;Z98048 AAH01208;AAH01681;AAH04989;BAG36508;BAH13526;CAB97210;CAD38980;CAG30328;CAG33677;EAW60397;EAW60398;EAW60399;EAW60400;NP_001191756;NP_071381;Q9NQH7 Hs.529163 1671548;1676888;1681308;1731369;1781154;1858542;2130245;5014051;5015404;5015619;5015879;5015961;5016478;5016596;5016700;5020740;5020946;5021872;5022200;5022450;5022588;5022651;5024413;5024756;5024761;5037552;5117897;7184802;7184975 D10S275;D11S2921;D11S3114;D15S1477;D18S21;D22S1256;D5S1597E;D8S2278;D8S2279;GDB:314949;GDB:434012;GDB:631802;GDB:631813;L17705;L17809;L17877;L17971;L18426;RH36905;RH79802;RH80030;RH92006;RH94212;STS-N20670;WI-11646;sY3084;stdJ997M22T APP3;NPHPL1 OTTHUMP00000199806;X-Pro aminopeptidase 3;aminopeptidase P3;probable Xaa-Pro aminopeptidase 3 APPROVED protein-coding ENSG00000196236 28052 10052 613159;613553 REVIEWED 735365 XPO1 exportin 1 (CRM1 homolog, yeast) The protein encoded by this gene mediates leucine-rich nuclear export signal (NES)-dependent protein transport. Exportin 1 specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jul 2008] 2 2 p15 61558573 61618922 - 61705069 61765418 - 1580863;6480464;6484113;6907045 11545741;12210765;9368044;7878053;9837918;11118210;18809582;19339972;19117056;19082467;18923137;18715912;18687685;18641393;18624354;18606808;18316374;18306389;18256292;18059333;17869244;17764157;17726064;17715235;17711849;17616652;17405816;17142760;17099693;17064665;16943420;16707848;16675447;16580684;16552725;16504563;16484227;16294017;16140268;16041368;15908946;15815621;15814838;15790592;15635413;15632073;15574332;15574331;15556946;15513923;15507209;15489334;15364930;15302935;15175654;15126627;15117971;14729966;14702039;14630927;14617633;14612415;14554087;12915405;12861014;12821127;12805458;12724356;12529437;12519765;12517958;12493914;12477932;12239324;12217955;12196506;12134041;12134013;12089160;12065584;11932251;11889117;11884594;11839808;11836381;11782423;11779848;11716535;11604520;11571268;11551912;11425870;11313479;11309306;11238447;11152524;11149927;11119609;10891499;10875611;10835362;10786834;10611974;10604476;10601307;10518602;10430904;10381392;10358091;10347184;10330396;10209022;10202161;9368759;9323133;9323132;9311922;9205132;9111043;9070945;9049309;8633082;7745679;7637788;7634337;7543368;1648487;15189895;16354571;15574333;10779340;12070164;16895915;12176322;20127713;20151187;16319068;16511568;17148452;17363900;17643375;18245089;18246793;19339969;19522705;19574837;19812309;19828735;19858290;20003838;20018851;20026644;20085707;20233715;19545931;22846997;16196087;17141982;20562859;21268017;21251165;12676962;16449650;17053781;19454010;20857263;20935510;21064154;10882110;15239126;20805509;22939629;21378169;21522132;21364925;16314522;21683812;23175358;23181366;23275444;23564911;22832492;21750575;22262852;21708948;17314511;21518760;19591226;20360068;21081666;21799930;22111374;21953454;19471022;22284678;18781797;21888622;21252943;19322201;22289179;21139048;21890473;21906983;21963094;22114565;22171254;20473970;21044950;21909257;22266855;22334690;22586326;22348310;10668806;12860972;22500989;19412186;22863883;23034282;22250199;22678362;22833565;23251541;23079374;23455922;23464991;16263121;17110338;19738201;21988832;22623428;23000965;23264634;22965172;23115280;22555597;10944119;17661632;18508616;18976462;19020832;19149558;19149559;19342232;19435492;19535902;19536614;20012529;20018238;20712566;20953181;20972448;21048991;21358275;21364984;21613532;22053931;22174317;22190034;22318151;22355797;22421880;22505724;22675540;22677130;22783232;22933280 7514 B3KWD0;C9IYM2;C9IZS4;C9J673;C9JF49;C9JKM9;C9JQ02;C9JV99;F8WF71;H7BZC5;O14980 ABBA01075356;ABBA01075357;ABBA01075358;ABBA01075359;ABBA01075360;AC016727;AK094339;AK124769;AK289920;AK299039;AK312426;AK316481;AL833550;AMYH01010383;AMYH01010384;AMYH01010385;BC032847;BX492941;BX643790;BX647758;BX954288;CH471053;CR749840;D89729;NM_003400;Y08614 AAH32847;AAY14949;ABM82197;BAA23415;BAF82609;BAG54092;BAG61113;BAH14852;CAA69905;CAH18695;CAH56174;EAW99993;EAW99994;EAW99995;NP_003391;O14980 Hs.370770 1685279;2133973;2160538;5015404;5016478;5021872;5022200;5022322;5022578;5024605;5037552 D11S2560;D1S1423;D8S2279;GDB:434012;L17705;L18426;RH12025;RH46337;RH75489;RH80312;sY3084 CRM1;DKFZp686B1823;emb;exp1 CRM1, yeast, homolog;Exportin-1 (required for chromosome region maintenance);OTTHUMP00000201470;OTTHUMP00000201494;OTTHUMP00000201496;chromosome region maintenance 1 protein homolog;exp1;exportin 1 (CRM1, yeast, homolog);exportin-1 APPROVED protein-coding ENSG00000082898 12825 03975 602559 REVIEWED 1322976 XPO6 exportin 6 The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] 16 16 16 p11.2 26887565 27001783 - 28016817 28130691 - 28109297 28223239 - 1580863;6480464 14592989;16189514;15489334;15302935;14702039;12477932;12168954;9205841;8125298;17353931;16847355;18614847;18676839;21556326;22323606;20379614;21195711;22939629;18029348;21906983 23214 B3KW08;D3DWF9;H3BMW9;H3BPG8;H3BR41;H3BRJ6;H3BRV5;H3BUP8;I3L0S8;I3L2D7;I3L2K0;Q96QU8 AB002368;ABBA01017168;ABBA01017169;AC136611;AK026172;AK123846;AK223043;AMYH01007408;AY026388;BC004403;BC014071;BC078674;BC108286;BC130304;BC144189;BI465054;BX346769;CH471145;NM_001270940;NM_015171 AAH04403;AAH14071;AAH78674;AAI08287;AAI30305;AAI44190;AAK01471;BAA20825;BAD96763;BAG53970;EAW55736;EAW55737;EAW55738;EAW55739;NP_001257869;NP_055986;Q96QU8 Hs.460468 1657366;1680357;1733270;1745981;1760363;2121182;2144815;2218648 AFM234XE9;D16S721;G36825;RH11596;RH125206;SHGC-141994;SHGC-6754;XPO6__4913 EXP6;FLJ22519;KIAA0370;RANBP20 RAN binding protein 20;exportin-6;ran-binding protein 20 APPROVED protein-coding ENSG00000169180 19733 10525 608411 REVIEWED 1322111 XPO7 exportin 7 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002] 8 8 8 p21 20739441 20826178 + 21833126 21920042 + 21777180 21864096 + 1580863;6480464 11024021;11071879;17353931;15489334;15282546;12477932;9872452;16169070;18256292;20503194;22863883;22939629;21900206;21139048;22586326;15161980;22505724;22797925 23039 E5RIW1;E7ESC6;E9PEN8;H0YBE1;Q9UIA9 AB018288;ABBA01005497;AC087363;AC091171;AF064729;AK291472;AK299848;AK311616;AL597247;AMYH01018562;BC014219;BC030785;CH471080;CN479571;DB460798;DC332379;NM_015024 AAF21771;AAH14219;AAH30785;BAA34465;BAF84161;BAG61710;EAW63733;EAW63734;EAW63735;EAW63736;NP_055839;Q9UIA9 Hs.172685 1653464;1659220;1672482;1715959;1735000;1758213;1759969;1759989;1770571;1786640;1786652;2134630;2159507 D20S527E;D8S1937;RH122722;RH17792;RH46213;SHGC-111641;SHGC-111915;SHGC-147676;SHGC-149145;SHGC-149578;SHGC-33989;SHGC-57382;STS-R93526 EXP7;KIAA0745;RANBP16 OTTHUMP00000224893;OTTHUMP00000224896;RAN binding protein 16;exp7;exportin-7;ran-binding protein 16 APPROVED protein-coding ENSG00000130227 14108 05846 606140 VALIDATED 1313662 XPOT exportin, tRNA This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008] 12 12 12 q14.2 64462903 64506901 + 63084500 63128731 + 64798153 64842464 + 1580863;6480464 9660920;17224653;16707848;15489334;12477932;12138183;11024021;10657246;9857198;9512417;21145461;20085707;20379614;20562859;22863883;22990118;23181366;22939629;17314511;21139048;21890473;20473970;18457437;18781797;21081666;22586326;10944119;22797925 11260 A8KA19;F5GYW6;F5GZM3;F8WDU6;O43592 ABBA01026603;AC135279;AF039022;AK292884;AK308108;AMYH01004547;BC000950;BC020569;BQ215290;CH471054;CR979468;NM_007235;Y16414 AAC39793;AAH00950;AAH20569;BAF85573;CAA76202;EAW97128;EAW97129;EAW97130;EAW97131;EAW97132;NP_009166;O43592 Hs.85951 2136067;2147125;2166257;5124966 D12S1146E;G17621;G20240;RH16726 XPO3 OTTHUMP00000239487;exportin(tRNA);exportin, tRNA (nuclear export receptor for tRNAs);exportin-T;tRNA exportin APPROVED protein-coding 12826 04418 603180 REVIEWED 732968 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008] 19 19 q13.2 48739304 48771555 - 44047464 44079730 - 1331525;1580863;1578408;2302570;2302571;2302572;2302567;2302568;2302577;2302578;2302580;2302573;2302574;2302569;2302575;2302566;2302852;2293824;2302576;2302855;2317128;2317367;6480464;6907045;7246935 15118671;16221808;18582155;17491266;17425776;18851872;18765423;16510122;15760950;17412650;17381415;16963196;18752184;16596326;19051060;15854596;18199464;16596238;9763211;19266243;16520463;21601536 19421825;21790234;22393969;22393975;21974800;21983886;14755728;15044383;8978692;19634112;19628051;19604089;19592152;19573080;19563645;19536092;19514640;19493423;19492240;19484764;19481674;19481337;19446740;19446452;19444915;19428062;22296363;22296379;22524842;22551904;22266871;22537351;18923427;22242598;22281126;22580644;19414392;19393248;19367277;19362955;19350405;19339270;19334053;19332728;19329222;19286843;19284666;19280628;19274602;19247656;19240242;19237606;19230024;19203783;19194663;19191745;19177501;19176223;19174490;19162321;19157633;19155274;19147860;19124519;19124499;19116388;19109787;19101034;19074885;19074750;19073198;19064572;19061777;19052983;19052039;19034980;19031937;19031698;19029194;19012493;18999926;18990748;18987609;18971944;18946634;18852222;18830263;18829510;18825991;18823566;18806752;18800344;18797464;18779313;18764855;18713157;18712175;18701435;18678286;18676680;18672023;18669164;18662670;18641418;18636124;18630471;18627000;18603015;18569591;18544627;18509181;18505590;18505345;18504145;18483312;18481169;18478337;18448328;18442016;18439038;18420361;18415712;18410587;18407370;18400332;18393249;18386788;18365755;18364571;18358500;18357393;18349297;18349267;18347181;18336890;18330515;18320070;18313385;18272472;18267032;18214807;18188695;18043991;18006925;18006764;17987379;17984110;17971348;17968463;17961713;17953974;17952468;17939032;17935911;17925548;17922186;17912469;17899335;17898541;17898525;17880707;17874204;17870518;17849423;17767850;17712032;17705814;17696747;17695538;17682675;17650498;17643379;17637462;17630853;17630376;17614221;17614107;17605237;17603793;17593927;17559126;17558308;17556064;17555083;17549067;17548684;17535647;17531525;17504986;17504380;17486273;17479411;17476281;17438703;17417947;17412371;17410042;17409981;17401013;17385092;17374967;17374727;17355790;17355263;17316890;17290738;17290401;17283177;17273745;17264068;17242676;17230526;17220334;17214369;17203305;17197435;17196815;17191090;17164360;17159780;17116943;17111423;17087834;17086695;17081983;17078101;17063276;17034901;17028303;17018785;17009149;16997330;16982113;16978516;16966185;16965996;16965236;16956909;16951227;16944782;16940014;16931584;16924699;16896002;16890595;16881598;16880786;16875718;16875604;16872898;16865671;16844323;16829685;16824555;16796765;16785472;16713569;16652373;16652158;16639733;16638864;16622263;16621887;16609022;16571649;16569655;16564556;16551674;16542819;16542436;16510609;16492928;16492913;16483478;16475125;16457697;16442856;16435384;16425350;16407418;16406883;16405741;16397295;16395669;16373199;16369171;16343742;16328064;16324877;16319991;16311243;16308313;16284769;16284386;16284380;16280050;16234265;16199318;16195237;16172217;16172101;16157195;16142409;16137195;16111035;16097394;16043197;16038584;16037119;16030121;16030112;16030105;16000577;15992842;15990162;15990020;15987676;15971256;15970793;15938845;15938843;15927541;15914277;15914210;15894689;15887293;15878910;15878096;15867196;15838887;15824172;15816625;15802298;15800946;15800678;15797631;15767338;15764301;15746160;15737490;15734960;15734955;15709194;15705867;15680411;15679883;15668931;15666192;15665590;15635413;15612468;15610045;15608415;15596292;15587988;15561718;15555565;15555397;15534883;15533591;15498778;15491645;15468052;15459223;15450429;15381933;15368334;15354414;15342556;15333465;15313891;15301704;15298955;15260972;15252855;15225899;15216398;15213713;15205355;15199549;15173214;15159312;15141024;15113441;15107487;15104288;15066923;15066914;15066279;15057824;15044328;15010895;14729591;14716779;14693738;14688016;14679022;14652287;14652281;14652276;14643949;14639127;14625810;14614013;14602524;14578150;14568296;14519756;14500814;12960109;12933815;12893086;12883749;12873719;12869411;12844488;12750239;12739102;12718576;12692111;12680158;12643788;12618003;12565173;12552590;12477932;12433703;12393447;12359351;12223443;12198176;12183419;12175549;12164325;12160895;12151350;12124811;12115580;12085237;12082022;12042672;12010862;11996973;11948190;11909950;11895912;11872635;11867203;11815397;11809696;11782372;11714530;11712813;11707423;11532866;11532376;11467963;11400117;11352725;11304692;11303590;11285194;11219769;11219768;11163244;11104903;11058877;10783319;10773072;10611252;9776979;9705932;9584196;9542526;9485007;9136882;8432525;8264637;7789989;7585546;7545953;2591959;2247054;17353931;15520167;11956078;15367657;16964241;17353262;17474147;18029348;18095605;19127428;19170196;19465687;19596613;19625176;19631990;19633665;19636001;19656722;19657998;19661089;19662459;19672255;19673050;19679847;19692168;19701703;19707910;19711438;19713684;19731014;19733688;19754350;19762325;19773279;19786980;19789190;19821085;19826048;19846968;19858398;19863846;19880550;19886181;19902366;19908066;19914098;19914697;19915856;19958624;19959686;20439344;19960344;19962393;19963133;20003463;20013148;20013659;20033188;20044627;20061190;20070155;20093049;20100738;20104979;20140625;20150366;20167976;20170971;20183911;20209647;20216541;20218899;20223788;20226869;20229274;20232390;20300859;20306073;20331623;20334523;20351257;20364408;20368715;20375340;20378691;20379614;20391347;20394984;20395310;20403997;20411322;20426969;20429839;20431719;20442803;20450747;20453000;20477822;20495366;20496165;20504250;20511665;20514470;20522537;20530453;20549339;20577654;21216841;20553853;19661379;20723587;20731661;20734048;20802378;20813000;20850372;20852942;20863523;20863780;20935060;20935063;20957144;20975374;20976253;20978448;20981350;21029695;21037106;21047201;21048041;21057378;16543152;22639094;22843073;22975644;20385586;18095557;19913121;20192583;20466601;20471329;20574454;20601096;20610542;20628086;20634891;20644561;20652227;20708344;20719408;20814250;20817763;20819327;21183201;21788800;21091896;21234761;20302655;20303835;21345510;21204762;21245954;20868244;21290343;21376741;21427728;22982660;22729882;22901125;22939629;23161045;21435086;21277872;21784313;21797115;20227374;21722819;21463130;21950097;21352951;21423097;21420246;21704413;22053659;22549274;21520294;21617750;20805321;21586140;21645210;19208635;21418871;21351625;21351626;22850545;22992732;21599457;23317230;23317245;23397959;21353781;21622940;21627375;21129812;21816818;21499756;21463129;21647176;21860547;21866464;21612998;21987112;22009704;12897160;21825151;22712837;22825692;22983827;23355608;23454624;23479765;23409158;21749698;21971103;22081374;22110224;21167658;21570215;21682595;21808882;21843798;21890473;22041025;22332413;22193858;21267572;22106831;22575451;19471022;21252943;21604176;21643959;21670956;21909257;21928248;21945240;22047709;22129893;22135187;22183071;22186158;22306120;22320953;22339849;22568010;22302399;22502651;22502666;22579466;23001975;23425027;21145461;22224629;23375119;22659345;22868082;22611936;23044807;23244082;23244100;23244143;23098440;23055199;23101479;23188703;23212324;15385968;22705987;22919255;23096083;23167352;23167354;23167420;23225521;23327191;23057594;23299794;22798271;23103366;23383237;23499241;22452940;22565339;22505724;22529951;22687647;22951806;22730687;22984511;22427030;22456434;23479135;22374554 7515 B2RCY5;F5H8D7;M0QYS5;M0QZ96;M0R0D2;M0R1U8;P18887;Q59HH7 AB208781;ABBA01040862;ABBA01040863;AC018758;AF512504;AK293542;AK300163;AK315332;AMYH01009839;AMYH01009840;BC023593;BP349667;CH471126;CR456728;L34079;M36089;NM_006297;Z23736 AAA63270;AAG09061;AAH23593;AAM34791;BAD92018;BAG37732;BAG57023;BAG61945;CAG33009;EAW57201;EAW57202;EAW57203;NP_006288;P18887 Hs.98493 1340506;1659188;1688847;1729283;1729345;1729347;1729349;1729351;1729353;1729355;2123487;2128125;2134605 D10S2482;D19S408;G64133;G64145;G64146;G64148;G64149;G64150;G64200;RH17697;RH48808;SHGC-2304;SHGC-30018 RCC DNA repair protein XRCC1;X-ray repair cross-complementing protein 1;X-ray-repair, complementing defective, repair in Chinese hamster;x-ray repair cross-complementing group 1 protein APPROVED protein-coding ENSG00000073050 12828 01909 194360 REVIEWED 1315237 XPR1 xenotropic and polytropic retrovirus receptor 1 1 1 1 q25.1 153708013 153966433 + 178867796 179122103 + 180601146 180859415 + 1580863;6480464 8619474;9990033;9927670;12477932;9988277;9110174;20410264;20379614;16354307;22090134;21139048;21890473;21906983;19322201 9213 Q9UBH6 AA425354;AB075495;ABBA01027789;ABBA01027790;ABBA01027791;AF089744;AF099082;AF115389;AK074789;AK309750;AL133058;AL137583;AL162431;AL358434;AL590085;AL603884;AMYH01001538;AMYH01001539;AMYH01001540;AMYH01001541;AMYH01001542;AMYH01001543;BC028576;BC041142;CH471067;CQ834682;CQ834686;DB461474;NM_001135669;NM_004736;U79279 AAD08928;AAD10196;AAD17211;AAH41142;CAB61383;CAB70825;CAH05556;CAH05558;EAW91086;EAW91087;NP_001129141;NP_004727;Q9UBH6 Hs.227656 1336602;1659883;1674460;1690936;1691190;1739005;1739917;1790197;1855710;1855712;2110043;2129852;2130849;2136312;2141409;2172037;2174440;2180729;2180731;5015619;5022598;5037552 1004;A005O32;A009E27;AL009988;AW531572;D11S3114;D1S117;D1S1967E;D1S2247;D1S2357;D1S2516;D1S2640;D1S308E;D1S3379;D8S2279;G20381;RH91144;RH93926;SHGC-75996;SHGC-76010;STS-N52057;XPR1_8914 FLJ90308;SYG1;X3 OTTHUMP00000033084;OTTHUMP00000033085;X-receptor;protein SYG1 homolog;xenotropic and polytropic murine leukemia virus receptor X3;xenotropic and polytropic retrovirus receptor 1 APPROVED protein-coding ENSG00000143324 12827 05574 605237 VALIDATED 1349181 XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008] 7 7 q36.1 151974516 152004183 - 152343583 152373250 - 1580863;2317365;2317507;6480464;6907045 16540687;17986315 19192406;19127255;19124519;19124506;19116388;19074885;19064572;19064565;18990748;18990028;18830263;18824251;18579371;18410587;18383855;18270339;18188695;18086758;18046624;17922422;17685459;17604576;17557904;17141189;17078101;17018785;16609022;16485136;16284386;16284380;16214912;16195237;15958648;15734952;15489334;15459223;15386379;15364127;15339847;15184273;15126335;15123651;15066914;15010895;14645207;14578164;12975363;12477932;12023985;12023982;11842113;11842112;11834724;11751635;11744692;11301337;11285194;10871607;10749867;9628903;19573080;19536092;19367277;19339270;19237606;21104022;10517641;10422536;9660962;9126486;7711722;7607692;15115758;15065660;20189471;20610542;21988832;20127279;20813000;14704354;19690184;19692168;19772428;19773279;19789190;20004634;20150366;20403997;20453000;20496165;20522537;21276791;21974800;21632523;21906983;22464251;22611952;23362303;23054243 7516 O43543;Q68DV8 ABBA01035119;ABBA01035120;ABBA01035121;AC003109;AC104843;AF035587;AF520762;AK313607;AMYH01018153;BC042137;CH471173;CR749256;NG_027988;NM_005431;Y08837;Y17033 AAC05369;AAC05802;AAH42137;AAM55241;BAG36372;CAA70065;CAA76597;CAH18112;EAW53967;EAW53968;NP_005422;O43543 Hs.647093 1746543;5016478;5020635;5024761 D7S3207;G64488;GDB:434012;RH36905 DKFZp781P0919 DNA repair protein XRCC2;OTTHUMP00000200066;RAD51-like;X-ray repair cross-complementing protein 2;X-ray repair, complementing defective, repair in Chinese hamster APPROVED protein-coding ENSG00000196584 12829 02656 600375 REVIEWED 1602597 XRCC6BP2 XRCC6 binding protein 2 q32.11 10219089 654443 Q9Y6H2 AF078528 AAD31086;Q9Y6H2 KUB4 protein-coding 32439 7241631 XRCC6P1 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 1 387703 ABBA01021878;AL159171;AMYH01002956;NG_028753 1675275 SGC34657 pseudo 45183 INFERRED 7241748 XRCC6P2 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2 15640154;15778293;22108332;22118674 389901 ABBA01037093;ABBA01037094;AC144560;AC235697;AMYH01023212 1341199;1675275;1787412;2127601;2167010 AFMB021XF1;D22S1245;DXS8086;SGC34657;SHGC-79468 pseudo 45184 MODEL 7241604 XRCC6P3 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 3 17455244 127086 ABBA01048080;AL451081;AMYH01001742;NG_022752 pseudo 45185 INFERRED 7241793 XRCC6P4 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 4 100422546 ABBA01041833;AC087358;AMYH01018762;NG_026031 pseudo 45186 INFERRED 7241677 XRCC6P5 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 5 X q22.1 98716600 99194841 - 17712032 442459 ABBA01064225;ABBA01064226;ABBA01064227;ABBA01064228;ABBA01064229;ABBA01064230;ABBA01064231;ABBA01064232;ABBA01064233;ABBA01064234;ABBA01064235;ABBA01064236;ABBA01064237;ABBA01064238;ABBA01064239;ABBA01064240;ABBA01064241;ABBA01064242;ABBA01064243;ABBA01064244;ABBA01064245;ABBA01064246;ABBA01064247;ABBA01064248;ABBA01064249;ABBA01064250;ABBA01064251;ABBA01064252;ABBA01064253;ABBA01064254;ABBA01064255;ABBA01064256;ABBA01064257;ABBA01064258;ABBA01064259;ABBA01064260;ABBA01064261;ABBA01064262;ABBA01064263;ABBA01064264;ABBA01064265;ABBA01064266;ABBA01064267;ABBA01064268;ABBA01064269;ABBA01064270;ABBA01064271;ABBA01064272;ABBA01064273;AL022148;AL137843;AL358953;AL390027;AL590293;AL606759;AMYH01022712;AMYH01022713;AMYH01022714;AMYH01022715;AMYH01022716;AMYH01022717;EU224311;NR_024608 ABW96212 Hs.706599 1737175;2057666;2123164;2140447;2151150;2164852 D11S3038;DXS7136;DXS7148;L30070;L38944;REN100006 pseudo 45187 VALIDATED 1350899 XRCC8 X-ray repair complementing defective repair in Chinese hamster cells 8 8879275 7521 12834 1323025 XPO5 exportin 5 This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011] 6 6 p21.1 43598050 43651642 - 43490068 43543812 - 4144860;6480464 19965479 12702765;17353931;19138993;19124606;19047128;16344560;15613540;15489334;15254228;15231748;14730017;14702039;14681208;14631048;14574404;14570900;12509441;12477932;12426393;12426392;12168954;11777942;10574462;20585341;20721975;20732906;20819778;20951941;18029348;20211803;20379614;22939629;21048991;21297638;22863883;23022380;16196087;17314511;21139048;21890473;21906983;22586326;22539802;22766726;23181366;22190034 57510 E2QRM3;H0Y3Q8;H0Y3W3;H0Y9I3;H0YA57;Q9NW39 AB033117;ABBA01050673;ABBA01050674;ABBA01050675;ABBA01050676;ABBA01050677;ABBA01050678;AF271159;AF298880;AK001195;AK022718;AK023431;AK024301;AK025864;AK056619;AK127513;AK291452;AL137467;AL355802;AL834207;AMYH01016314;BC000129;BC008347;BC009969;BC062635;BF108994;CH471081;DB068849;NM_020750 AAG17907;AAG53603;AAH00129;AAH08347;AAH09969;AAH62635;BAA86605;BAA91547;BAB14200;BAB14572;BAF84141;BAG51288;BAG51767;CAB70753;EAX04206;EAX04207;NP_065801;Q9HAV4 Hs.203206 1339486;1753367;1854795;1856171;2178284;2182049;2190889;7185385;7186157 D6S1161E;D6S1340;D6S1888;D6S271;MARC_10377-10378:999102157:1;RH18413;SHGC-107161 FLJ14239;FLJ32057;FLJ45606;KIAA1291;exp5 OTTHUMP00000016472;OTTHUMP00000224035;exp5;exportin-5;ran-binding protein 21 APPROVED protein-coding ENSG00000124571 17675 06385 607845 VALIDATED 1605901 XRCC6BP1 XRCC6 binding protein 1 12 12 12 q14.1 57994050 58009658 + 56621712 56637319 + 58335445 58351052 + 6480464 10219089;12477932;11571779 91419 H0YIJ9;Q9Y6H3 ABBA01026690;AC084033;AF078164;AMYH01004526;BC012776;BC033881;BC115381;BC115382;CH471054;NM_033276 AAD31085;AAH12776;AAH33881;AAI15382;AAI15383;ADZ16060;EAW97091;NP_150592;Q9Y6H3 Hs.61188 1675602;1677216 RH79979;RH94258 KUB3;MGC134817;MGC134818 Ku70 binding protein 3;Ku70-binding protein 3;OTTHUMP00000243933;XRCC6-binding protein 1;mitochondrial inner membrane protease ATP23 homolog protein-coding ENSG00000166896 29452 17256 PROVISIONAL 1315699 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008] 14 14 q32.3 103233707 103251576 - 104163954 104181823 - 1580863;1331525;2317130;6480464;6907045;7240710 15118671;18559563 17476281;17410042;17401013;17374967;17351336;17197435;17191090;17177211;17164360;17159780;17158087;17131345;17116943;17114795;17078101;17063279;17063276;17034901;17018785;16997330;16981340;16966185;16963196;16940014;16824555;16791138;16728435;16707649;16652373;16638864;16622263;16621732;16609022;16571649;16564556;16551674;16542436;16540687;16510122;16505003;16501254;16492913;16485136;16475125;16425350;16407418;16373199;16369171;16357593;16344560;16343742;16308313;16284386;16284380;16271954;16234265;16214912;16195237;16137195;16037119;16030112;16002061;15992842;15990020;15971256;15933498;15914277;15914210;15887293;15887211;15878910;15878096;15843498;15824172;15767338;15746160;15737490;15734952;15680411;15679883;15491645;15489334;15468052;15459223;15450429;15386379;15372620;15354414;15333465;15313891;15312685;15292210;15199549;15184273;15126335;15102670;15066923;15066914;15019159;15010895;15009726;14729591;14702039;14688016;14652287;14652281;14643949;14578164;14534887;14511439;12917199;12869411;12815008;12565173;12477932;12393447;12376526;12223443;12115490;12082022;12036913;12023982;11842113;11744692;11532866;11459987;11331762;11304692;11285194;11059748;10541549;9542526;9660962;7603995;19573080;19549356;19536092;19481674;19429237;19426727;19414392;19393248;19367277;19339270;19330829;19286843;19280628;19251090;19237606;19177501;19127255;19124506;19116388;19096231;19092295;19064572;19064565;19031937;19027952;19012493;18990748;18987609;18977234;18852222;18830263;18829510;18824251;18768166;18756535;18752184;18712175;18708406;18701435;18676680;18630471;18627000;18582155;18581889;18579371;18551366;18543213;18504145;18495522;18448328;18410587;18365755;18336773;18335219;18330515;18300452;18270339;18212739;18204928;18188695;18086758;18067130;18046624;18033323;17986315;17971348;17953974;17901044;17898541;17712032;17705814;17701750;17685459;17630853;17627014;17617021;17614221;17605237;17557904;17549067;17535647;21790234;22161248;21974800;975276;15115758;15065660;21397596;19789975;20687897;16215984;19913121;20590474;20601096;20610542;20628086;20634891;20644561;20708344;20804747;20817763;21104022;10422536;14704354;19170196;19625176;19656722;19661089;19692168;19724896;19733688;19772428;19773279;19789190;19815090;19886181;19914098;19915856;19962393;20004634;20049524;20054644;20061190;20140625;20150366;20199546;20229274;20306073;20331623;20334523;20368715;20429839;20453000;20462983;20496165;20500515;20522537;20530453;20549576;20211142;20731661;20813000;20947146;20976253;21035470;21047201;18095557;21113933;21183201;20450923;22740138;22752646;21283680;21726821;23504553;23526128;23397959;21296419;21725594;21176850;22580644;21937297;23409158;21749698;21951951;22092501;22524842;21139048;21906983;21725251;22611952;20301425;21729596;22370935;22374424;22568010;22613844;22224629;22299591;21965664;23300009;23044807;23244079;23244135;22864780;23355119;23438602;22427030;22456434;23075580;23562721;23167352;21560306 7517 G3V2L7;G3V2P3;G3V399;G3V3C8;G3V3H9;G3V3Q2;G3V5K0;O43542;Q53XC8 ABBA01048412;AF035586;AF037222;AF508041;AK022829;AK023646;AK124498;AK126706;AL049840;AMYH01006050;BC001036;BC002949;BC011725;BC073820;BT007417;BX161398;CH471061;DB041321;NG_011516;NM_001100118;NM_001100119;NM_005432 AAC04805;AAC05368;AAH01036;AAH02949;AAH11725;AAM23015;AAP36085;ABM83088;ABM86281;BAG51121;BAG51212;BAG54042;CAD61884;EAW81837;EAW81838;EAW81839;EAW81840;EAW81841;EAW81842;NP_001093588;NP_001093589;NP_005423;O43542 Hs.592325;Hs.733412 1688000;1797048;2132027 G36094;RH93079;XRCC3_1114 CMM6 DNA repair protein XRCC3;OTTHUMP00000240458;OTTHUMP00000246666;OTTHUMP00000246667;OTTHUMP00000246668;RAD51-like;X-ray repair cross-complementing protein 3 APPROVED protein-coding ENSG00000126215 12830 07201 114480;600675;613972 REVIEWED 1349596 XS X-linked suppressor of LU antigens 7523 12837 309050 1353683 XWNPEP X-tryptophanyl aminopeptidase (aminopeptidase W) 7524 12838 1353234 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq, Sep 2008] 5 5 q14.2 82409073 82685335 + 82373317 82649579 + 6480464;6907045 9259561;9242410;9259651;12517771;9809069;16439205;12091904;16291214;19573080;19536092;19443403;19408343;19332554;19237606;19116388;19103754;19092295;19074885;19064572;18990028;18952251;18852222;18830263;18768505;18676680;18630527;18579371;18410587;18383855;18270339;18246529;18177646;18165945;18164646;18158905;18046455;17987338;17963495;17901044;17606631;17557904;17317666;17290226;17272270;17241822;17124166;17097754;16835328;16741161;16728435;16713569;16571728;16485136;16478998;16412978;16344560;16189514;15746160;15680411;15520013;15489334;15385968;15380105;15177042;15177040;15194694;12589063;17353931;14607114;14576825;14561766;12750264;12547193;12509254;12477932;12218164;11702069;11062157;10945980;10854421;10786799;10757784;10320474;10202163;9875844;9430729;9352367;8548796;7665175;1697445;17567543;16169070;18458108;20610542;20726224;20811692;18773976;20813000;20920336;20844317;16275660;16964241;17396150;18029348;19170196;19625176;19661089;19692168;19729825;19773279;19789190;19837014;19861517;20150366;20232359;20331623;20332465;20453000;20496165;20522537;20683005;20852255;20975951;21788800;22659345;21506695;23442139;22939629;21353781;21775435;21768349;15840729;21785230;21139048;21890473;21906983;21936820;19471022;22287571;21982441;11809878;21987080;22102241;21575865;21617942;22183071;22994773 7518 Q13426;Q7Z763 AB017445;ABBA01062079;ABBA01062080;ABBA01062081;ABBA01062082;ABBA01062083;ABBA01062084;AC016568;AC022416;AC034211;AC094085;AF055278;AF055279;AK290739;AMYH01015452;AMYH01015453;AMYH01015454;AMYH01015455;AY940097;BC005259;BC010655;BC016314;BT007216;CH471084;DA067761;NM_003401;NM_022406;NM_022550;U40622 AAC50339;AAD47297;AAD47298;AAH05259;AAH10655;AAH16314;AAP35880;AAX14046;ACE87045;BAB20668;BAF83428;EAW95897;EAW95898;EAW95899;EAW95900;EAW95901;EAW95902;NP_003392;NP_071801;NP_072044;Q13426 Hs.567359 1335585;1339027;1661482;1709222;1722841;1785766;1788180;1788644;2118078;2132081 D5S1959;D5S2094;D5S2537;G16995;G60363;G67284;RH18150;RH66238;SHGC-83773;SHGC-85795 DNA repair protein XRCC4;OTTHUMP00000161995;OTTHUMP00000161996;OTTHUMP00000222360;OTTHUMP00000222361;X-ray repair cross-complementing protein 4;X-ray repair, complementing defective, repair in Chinese hamster APPROVED protein-coding ENSG00000152422 12831 15951 194363 REVIEWED 6480859 XXYLT1-AS1 XXYLT1 antisense RNA 1 q29 100874528 BF509707 Hs.581659 APPROVED miscrna 41153 7243080 XXYLT1-AS2 XXYLT1 antisense RNA 2 q29 7566098 101410543 AA344494;AA344559;AI307804;AW963078;NR_102710;NR_102711;R83154 Hs.658170 miscrna 41154 VALIDATED 1313568 XRRA1 X-ray radiation resistance associated 1 11 11 11 q13.4 71858507 71966797 - 74229604 74337880 - 74551955 74660232 - 6480464 12908878;17295261;16344560;14702039;12477932;16751776 143570 E9PIR2;E9PJ58;E9PL06;E9PMT6;E9PP69;H0YD10;Q6P2D8;Q8TEH2 ABBA01017476;ABBA01017477;AF439934;AK056364;AK074152;AK091449;AMYH01003813;AP000560;AP001992;AY163836;BC037294;BC040541;BC064584;BK000541;CH471076;CR749605;DA104497;DB040217;DB082524;DQ581943;DQ587665;NM_001270380;NM_001270381;NM_182969 AAH64584;AAO23657;AAP97315;BAB84978;BAG52364;CAH18400;DAA00367;EAW74951;NP_001257309;NP_001257310;NP_892014;Q6P2D8 Hs.744081 1644329;1651515;1656321;1689031;1697494;1775687;1782488;1848059;1986748;2150460;2167804;2180912;2181426;5493928 AB072776;D11S1230;D11S2255E;D11S3966;REN64276;RH102249;RH17472;RH18485;RH35834;RH67963;RH93541;SGC34365;SHGC-172586;STS-R11335 OTTHUMP00000230030;OTTHUMP00000230109;X-ray radiation resistance-associated protein 1 protein-coding ENSG00000166435 18868 609788 VALIDATED 1348971 XRN1 5'-3' exoribonuclease 1 SEP1 localizes to cytoplasmic foci containing a complex of mRNA-degrading enzymes. In addition to mRNA metabolism, yeast Sep1 has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly.[supplied by OMIM, Apr 2004] 3 3 3 q23 140448929 140590249 - 143508139 143649543 - 142025449 142166853 - 1580863;6480464;6907045 15231747;17081983;15489334;14702039;14580940;14527413;12515382;12477932;12426100;11329013;9802570;9049243;17148452;18172165;18029348;17545563;23142987;21145460;17314511;21139048;21890473;21906983;22586326;22505724 54464 B4E2K3;C9JCZ8;F8WDA0;H7C583;H7C5E4;Q8IZH2 ABBA01059024;ABBA01059025;ABBA01059026;ABBA01059027;ABBA01059028;ABBA01059029;AC023508;AC109992;AK096177;AK123897;AK304312;AL117516;AL133623;AMYH01013547;AY137776;BC039314;BC048104;BC078146;BG197321;BX640905;CH471052;CR627160;CR627396;CR749518;HC879400;HD033109;NM_001042604;NM_019001 AAH39314;AAH48104;AAI41556;AAN11306;BAC04718;BAG53979;BAG65165;CAB63749;CAE45950;CAH10490;CAH18332;CBM42916;CBV35649;EAW78971;EAW78972;EAW78973;NP_001036069;NP_061874;Q8IZH2 Hs.435103 1654297;1656842;1657991;1674581;1700872;1724219;1851007;2113724;2150490;5491826 16STS01;AB048929;RH104062;RH121246;RH46274;SHGC-33459;SHGC-56571;STS-T66948;STS-U76308;WI-13749 DKFZp434P0721;DKFZp686B22225;DKFZp686F19113;FLJ41903;SEP1 5'-3' exoribonuclease 1;OTTHUMP00000214507;OTTHUMP00000214577;OTTHUMP00000214578;strand-exchange protein 1 homolog APPROVED protein-coding ENSG00000114127 30654 10470 607994 VALIDATED 1320991 XRN2 5'-3' exoribonuclease 2 This gene shares similarity with the mouse Dhm1 and the yeast dhp1 gene. The yeast gene is involved in homologous recombination and RNA metabolism, such as RNA synthesis and RNA trafficking. Complementation studies show that Dhm1 has a similar function in mouse as dhp1. The function of the human gene has not yet been determined. Transcript variants encoding different isoforms have been noted for this gene; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 20 20 20 p11.2-p11.1 21360521 21444351 + 21231942 21318463 + 21283942 21370463 + 1580863;6480464;6907045 10409438;15231747;15565158;12429849;17639083;17081983;16964243;16648491;16147866;15635413;15489334;15302935;14702039;14527413;12477932;11780052;11230166;21145461;18955505;19915612;21700224;22939629;21252943;22483619;17043677;21903422;21987572;22178446;21139048;21890473;21906983;21628590;22446626;22522706;22586326;18029348;22980978;22505724 22803 B4DZC3;Q9H0D6 ABBA01054101;ABBA01054102;ABBA01054103;AF064257;AF152169;AK000084;AK001573;AK172858;AK302846;AK303312;AK314602;AL117332;AL136841;AL158013;AMYH01011769;AY382900;BC000315;BC006417;BC032075;BC131775;BC142960;BF665945;BU620774;CF994999;CH471133;NM_012255 AAD55138;AAH06417;AAI31776;AAI60100;AAQ13577;AAR24369;BAA90934;BAG50941;BAG64035;BAG64381;CAB66775;EAX10186;EAX10187;NP_036387;Q9H0D6 Hs.255932 1334874;1686546;1727237;1754577;2140099;2147413;2170877;7186215 D20S190;G62873;RH65531;RH93448;SHGC-132862;SHGC-53620;WI-10427 5'-3' exoribonuclease 2;DHP protein;Dhm1-like protein (mouse homolog);OTTHUMP00000030403 APPROVED protein-coding ENSG00000088930 12836 10309 608851 REVIEWED 732846 XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008] 22 22 q13.2 40347241 40389998 + 42017295 42060052 + 1580863;704404;6480464;6907045 21075794;7957065;1537839;10409678;18809223;10783163;9826654;10508516;12091904;12145306;16291214;15824061;2917966;15100233;12023295;12065431;19408343;19251090;19237606;19219618;19181665;19177010;19134120;19116388;19074885;19064572;18990028;18768166;18757043;18706726;18546291;18487076;18374504;18362350;18303113;18208821;18164703;18000863;17982634;17971348;17952468;17885668;17768380;17714764;17671430;17617666;17496833;17479409;17389609;17334224;17202845;17187679;17159921;17124166;16857680;16713581;16448389;16440001;16360032;16169070;16097034;15958648;15905197;15827325;15782130;15723802;15640154;15635413;15613478;15489334;15461802;15383276;15302935;15231748;15220460;15159402;15123719;15075319;15019772;14991539;14734561;14702039;14627815;14570916;12867423;12756247;12750264;12672812;12664629;12664628;12547193;12519782;12518983;12509254;12494870;12477932;12467650;12377759;12368356;12324457;12177300;12171929;12145309;12145308;12145307;11821378;11796732;11790298;11749722;11493912;11457852;11406603;11314007;11279128;11239001;11238996;11162511;11158303;11112778;11070027;10984620;19906305;10750018;10591208;10570175;10514012;10446239;10377944;10219089;10213687;10207052;10026262;9914162;9798959;9742108;9488450;9430697;9362500;9312071;9223317;9200330;8954777;8702520;8621488;8524317;8240370;7882982;2466842;1639139;1608402;12551933;10064605;10757784;10823961;10880505;16407974;19118032;21145461;22455395;22524845;19913121;20610542;20628086;20538911;11328876;16541024;17220478;17283121;19041431;19265193;19467273;19672258;19692349;19794960;19809793;20157594;20368362;20383123;20453000;20496165;20496270;20522537;19661379;19666485;19833092;20697560;20047046;17213819;20127252;20493174;17620599;21972126;22322857;22446626;22586326;16794079;18710944;19394292;21070772;20570964;16055720;16159877;16166097;16226712;21042724;22593040;22939629;17389650;21349273;15520013;18385154;18406329;21304054;10400681;15023334;21256093;21116096;22863883;22990118;16051665;19247369;19303849;20360068;21081666;21756904;21108727;21423092;21521024;22226402;22535209;17242407;20224553;20394854;21187428;21209461;21398614;21575261;20504901;21512205;22993329;21107697;21252943;21969602;22399625;16196087;17314511;19135240;21172662;20718578;21556760;12897160;15367688;17308091;18781797;21454661;21825151;21900206;21987572;22037767;22079093;22108332;22118674;22178446;8422676;15910003;21139048;21549307;21693764;21890473;21906983;16490787;21888893;22442688;19471022;20080577;21907836;22179609;16009940;17361185;21044950;21113133;21575865;21628590;21679440;21847364;22617044;23098447;17725712;21042904;15140983;15385968;19738201;19805454;20711232;21963094;21988832;22623428;22751105;23000965;23145133;23182705;23184937;23393345;8760815;21671178;23271361;23322783;17304248;19750561;21853274;22053931;22268729;22505724;22745744;22797925 2547 B1AHC8;B1AHC9;F5H1I8;P12956 ABBA01055648;ABBA01055649;ABBA01055650;AK055786;AK293439;AK304580;AK315618;AMYH01012803;AMYH01012804;AY870329;BC001583;BC008343;BC010034;BC012154;BC018259;BC072449;CD683757;CH471095;CR456492;CR542219;CS330042;CS545602;HH794620;J04607;J04611;M32865;NM_001469;S38729;Z83840 AAA36155;AAA51733;AAA61177;AAB22381;AAH08343;AAH10034;AAH12154;AAH18259;AAH72449;AAW34364;ABZ92421;ACE86491;ACE87172;BAG37986;BAG51575;BAG56943;BAG65368;CAG30378;CAG47015;CAK54520;CAK54819;CAL00149;CAN36299;CBX87167;EAW60446;EAW60447;EAW60448;NP_001460;P12956 Hs.292493 1675275;1682361;1689486;1788314;1789835;1847511;2127601;2127603;2218540;5015837;5022172;5022333 D10S2161;D22S1245;D22S1267;D22S731;G22P1_2710;G67490;GDB:190933;RH11334;RH27888;SGC34657;WI-18866;csnpg22p1-pcr12-2 CTC75;CTCBF;G22P1;KU70;ML8;TLAA 5'-dRP lyase Ku70;5'-deoxyribose-5-phosphate lyase Ku70;70 kDa subunit of Ku antigen;ATP-dependent DNA helicase 2 subunit 1;ATP-dependent DNA helicase II 70 kDa subunit;ATP-dependent DNA helicase II, 70 kDa subunit;CTC box binding factor 75 kDa subunit;CTC box-binding factor 75 kDa subunit;DNA repair protein XRCC6;Ku autoantigen p70 subunit;Ku autoantigen, 70kDa;OTTHUMP00000199331;OTTHUMP00000199332;OTTHUMP00000199333;OTTHUMP00000199334;OTTHUMP00000199335;OTTHUMP00000199349;X-ray repair cross-complementing protein 6;lupus Ku autoantigen protein p70;thyroid autoantigen 70kD (Ku antigen);thyroid autoantigen 70kDa (Ku antigen);thyroid-lupus autoantigen p70 APPROVED protein-coding ENSG00000196419 4055 01071 152690 REVIEWED 733855 XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008] 2 2 q35 216682378 216779248 + 216974020 217071016 + 1580863;6480464;6907045 15824061;15100233;12023295;12065431;19414375;19408343;19251090;19237606;19217823;19205005;19192406;19181665;19177010;19074885;19064572;18936166;18768166;18706726;18676680;18579371;18415044;18403903;18386192;18252799;18164703;18000863;17984099;17982634;17943968;17904587;17901044;17671430;17534116;17507472;17496833;17389609;17355791;17289874;17214517;17187679;17159921;17124166;16713581;16537541;16448389;16137195;16014171;15910003;15824172;15817152;15758953;15723802;15680411;15640154;15635413;15613478;15561718;15489334;15377652;15342556;15220460;15123719;15075319;14734561;14702039;14617623;14511439;12867423;12750264;12672812;12547193;12519782;12518983;12477932;12467650;12403924;12393188;12391174;12377759;12324457;7957065;1537839;10409678;18809223;10783163;12091904;16291214;21547134;17242407;20668194;21454661;12177300;12171929;12145312;12145311;12145310;12145306;12077346;12017286;11985783;11937624;11741501;11739746;11493912;11443112;11406603;11328876;11158303;11070027;10880505;10757784;10673353;10514012;10446239;10340383;10213687;10207052;10026262;9636207;9542526;9442054;9358055;9325337;9312071;9214634;8702520;8586433;8240370;8125298;8088837;8073286;8031790;8021251;7882982;2760028;2308937;2212941;2211668;1631138;1505945;11239001;10984620;10219089;9488450;8621488;10823961;11279128;12756247;21123545;17389650;21137076;20047046;19906305;18029348;19661379;19666485;19833092;20819778;10535943;16541024;17158748;17220478;17283121;17308091;17396150;17626748;19170196;19341103;19528488;19536092;19625176;19661089;19672258;19692168;19715578;19794960;19893054;20044645;20157594;20195511;20201926;20232390;20379614;20453000;20463177;20496165;20522537;19118032;21145461;21319273;22226402;22535209;20610542;20644561;20811692;16166097;16794079;19394292;20890109;21042724;21070772;21349273;21196465;21304054;20873769;10400681;15023334;15520013;18385154;18406329;21116096;23220236;20711232;23182705;23184937;21209461;21349997;21521024;20504901;20811636;21512205;15383534;16051665;19303849;21081666;21640108;10750018;22863883;22939629;22990118;21684294;16196087;17314511;17342744;21172662;21252943;22226916;21756904;14704337;17620599;22404984;22446626;22586326;18457437;22027142;22079093;12897160;15367688;18781797;20639865;21663524;21825151;21942715;21987572;22118674;16857680;23181744;23322783;12937274;16009940;21113133;21575865;21628590;21679440;21855630;22265216;16490787;19013454;22362780;21139048;21549307;21890473;21906983;21971347;22266820;19471022;20080577;21907836;21075794;21877955;15385968;16212417;16440001;19738201;19805454;21963094;21988832;22623428;22751105;23000965;23098447;23438482;8760815;15140983;17725712;20023628;23020778;23344954;23178593;19750561;21853274;22053931;22505724;22952844;23022196 7520 C9JZ81;H7C0H9;P13010 ABBA01062812;ABBA01062813;AC008123;AC009521;AC010686;AC012513;AF039597;AK026166;AK096408;AK222603;AK290740;AMYH01011488;AMYH01011489;BC019027;BC095442;BG717693;BP375944;BU184024;CH471063;DQ787434;HH794622;J04977;M30938;NG_029780;NM_021141;X57500 AAA36154;AAA59475;AAC52087;AAH19027;AAH95442;AAY14659;AAY24231;ABG46942;ABM83586;ABM86851;BAD96323;BAF83429;CAA40736;CBX87168;EAW70562;EAW70563;NP_066964;P13010 Hs.388739 1339562;1668421;1701312;1788076;1788078;1788080;1788082;1788084;1791618;1791620;1793514;1798320;1848326;2119441;2125793;2128181;2167890 A004W06;D2S2382;D2S2606;D2S2881;G67228;G67229;G67230;G67231;G67232;HSC2AF082;PMC117391P1;PMC117391P2;PMC22716P1;RH104285;SHGC-11966;SHGC-33338;XRCC5_1894 FLJ39089;KARP-1;KARP1;KU80;KUB2;Ku86;NFIV 86 kDa subunit of Ku antigen;ATP-dependent DNA helicase 2 subunit 2;ATP-dependent DNA helicase II 80 kDa subunit;CTC box-binding factor 85 kDa subunit;CTC85;CTCBF;DNA repair protein XRCC5;Ku autoantigen, 80kDa;Ku86 autoantigen related protein 1;OTTHUMP00000164061;OTTHUMP00000206791;TLAA;X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD);X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa);X-ray repair cross-complementing protein 5;X-ray repair, complementing defective, repair in Chinese hamster;lupus Ku autoantigen protein p86;nuclear factor IV;thyroid-lupus autoantigen;x-ray repair complementing defective repair in chinese hamster cells 5 APPROVED protein-coding ENSG00000079246 12833 08935 194364 REVIEWED 1345440 XXYLT1 xyloside xylosyltransferase 1 3 3 3 q29 193204274 193400324 - 196270302 196473166 - 194789013 194991895 - 737633;6480464 12477932 16344560;16303743;15489334;14702039;21145461;20876614;22117070;21890473;19322201 152002 F8WEN6;H7C2F4;Q8NBI6 ABBA01001612;ABBA01001613;ABBA01001614;ABBA01001615;ABBA01001616;ABBA01001617;ABBA01001618;ABBA01001619;AC090018;AC106705;AK057046;AK075551;AK092474;AK301133;AMYH01013784;AMYH01013785;AMYH01013786;BC019036;BC039067;CH471052;CS051443;DA575404;NM_152531 AAH19036;AAH39067;BAB71355;BAC03899;BAC11694;BAG62725;CAI72215;EAW78028;EAW78029;EAW78030;NP_689744;Q8NBI6 Hs.478741;Hs.743284 1720517;1757043;1765957;2115159 A002S34;G59212;SHGC-144408;SHGC-149353 C3orf21;FLJ35155 OTTHUMP00000208915;OTTHUMP00000208916;UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase;hypothetical protein LOC152002;uncharacterized protein C3orf21;xyloside xylosyltransferase 1 APPROVED protein-coding ENSG00000173950 26639 08757 614552 VALIDATED 3322381 YAP1P1 Yes-associated protein 1 pseudogene 1 6 6 6 q24.3 148468469 148469861 + 147769718 147771239 + 147728025 147729417 + 442266 ABBA01025713;ABBA01025714;AL355365;AMYH01016729;NG_022376 pseudo 38016 INFERRED 3277197 YAP1P2 Yes-associated protein 1 pseudogene 2 X X 114738814 114739599 + 114303639 114304424 + 100419909 ABBA01053641;AL121878;AMYH01022852;NG_022692 pseudo 38017 INFERRED 6482764 YAP1P3 Yes-associated protein 1 pseudogene 3 6 126948623 126949801 - 100419883 ABBA01025941;AL359535;AMYH01016652;NG_025861 pseudo 43890 INFERRED 1315329 YAE1D1 Yae1 domain containing 1 7 7 7 p14.1 39593539 39600016 + 39572534 39578996 + 39606003 39612480 + 737633;6480464 12477932 21628590;21145461;16169070;15489334;12853948;12690205;9847074;19615732;23318452;21832049;21900206 57002 B2RC46;B4DE83;C9IZ57;Q9NRH1 AACC02000038;ABBA01058143;AC011290;AF226046;AK314937;AMYH01017190;BC022043;CH236951;CH471073;CR457198;NM_020192 AAF86946;AAH22043;AAQ96864;ABM83755;ABM87073;ABM87074;BAG37443;CAG33479;EAL23993;EAW94120;NP_064577;Q9NRH1 Hs.83313 1689005;1723055;2141808;2168684 RH121880;RH65082;SHGC-33366;SHGC-57265 C7orf36;GK003 OTTHUMP00000158871;OTTHUMP00000207664;hypothetical protein LOC57002;uncharacterized protein C7orf36;yae1 domain-containing protein 1 APPROVED protein-coding ENSG00000241127 24857 16669 VALIDATED 737486 XYLT1 xylosyltransferase I This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009] 16 16 p12.3 17103682 17472239 - 17196181 17564738 - 634510;1580863;2313138;2313142;2313145;2313136;2313146;6480464;6907045;7240710 11099377;17003309;19001053;18765417;16759312;18095597 16133423;18029348;19197251;19014925;18763033;18294457;17980567;17635914;17189266;16778156;16571645;16569644;16225459;16164625;15461586;15294915;12477932;11814476;11087729;10383739;19762916;20379614;20301292;23223231;21150319;23322567;22479506 64131 Q86Y38 ABBA01006948;ABBA01006949;ABBA01006950;ABBA01006951;AC009152;AC099494;AC109446;AI524006;AJ277441;AJ539163;AK000198;AL050125;AMYH01007185;BC036692;BC045778;BU620961;BX647541;CH471203;NG_015843;NM_022166 AAI56040;CAC16787;CAD62248;EAW50949;NP_071449;Q86Y38 Hs.22907;Hs.737758 1339571;1340285;1649867;1661294;1677456;1717073;1718795;1755183;1767411;1783402;2137828;2146647 D16S3017;D16S3103;G17888;RH121453;RH123101;RH48006;RH48339;RH48694;RH98909;SHGC-142101;SHGC-154898;SHGC-6763 PXYLT1;XT-I;XT1;XTI;XYLTI O-xylosyltransferase 1;OTTHUMP00000160436;beta-D-xylosyltransferase 1;peptide O-xylosyltransferase 1;xylT-I;xylosyltransferase 1;xylosyltransferase iota APPROVED protein-coding ENSG00000103489 15516 12168 264800;608124 REVIEWED 1316534 XYLB xylulokinase homolog (H. influenzae) The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009] 3 3 3 p22-p21.3 38323884 38392347 + 38363244 38431471 + 38388251 38456467 + 1580863;6480464;6907045 9763671;14702039;12477932;10231028;19389651;20379614;22939629;23027762;21890473;21906983;23179721 9942 B4DDT2;C9J0N9;F8WBF6;O75191 AB015046;ABBA01024820;ABBA01024821;ABBA01024822;ABBA01024823;ABBA01024824;ABBA01024825;AK001205;AK022601;AK025728;AK293325;AK314386;AMYH01013092;AP006191;AP006193;BC030231;BC039712;BC052984;BC137076;BC137080;BI090475;CH471055;NM_005108 AAH30231;AAI37077;AAI37081;BAA31527;BAG37011;BAG50868;BAG56843;EAW64531;EAW64532;EAW64533;EAW64534;NP_005099;O75191 Hs.659985 1335766;1340758;2218882;5015619;5037552;7186241 D11S3114;D3S1260;D3S3639;D8S2279;XYLB__4916 FLJ10343;FLJ12539;FLJ22075 OTTHUMP00000161968;xylulose kinase APPROVED protein-coding ENSG00000093217 12839 06812 604049 REVIEWED 731564 XYLT2 xylosyltransferase II The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. [provided by RefSeq, Jul 2008] 17 17 q21.33 45778392 45793511 + 48423393 48438512 + 634510;6480464;6907045;7240710 11099377 19289103;19197251;19014925;18789912;18763033;18023272;17194707;17003309;16569644;16164625;15489334;12975309;12477932;11814476;11087729;10383739;9588955;19389916;20301292 64132 B4DT06;D6RCT0;H0YB00;I3L3K2;Q9H1B5 ABBA01041239;AC015909;AJ277442;AK299999;AMYH01008471;AY358090;BC017084;BC036069;BC052262;CH471109;NG_012175;NM_022167 AAH52262;AAI56445;AAQ88457;BAG61818;CAC16788;EAW94626;EAW94627;NP_071450;Q9H1B5 Hs.463416 2164269;5022578;5024039;5037552 D16S325;D1S1423;D8S2279;RH69808 PXYLT2;XT-II;XT2;xylT-II OTTHUMP00000221156;OTTHUMP00000221157;OTTHUMP00000221158;UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase;peptide O-xylosyltransferase 1;protein xylosyltransferase 2;xylosyltransferase 2 APPROVED protein-coding ENSG00000015532 15517 16286 264800;608125 REVIEWED 1344488 YBX1P1 Y box binding protein 1 pseudogene 1 14 14 14 q23.3 46538216 46539711 - 65548862 65550416 - 66479149 66480644 - 7628487;2977358 50631 ABBA01023729;AL391261;AMYH01005806;L37516;NG_001276 2173356;5021326 RH70784;Ybx1 NSEP1P;PSDBPB1 pseudo 8015 INFERRED 5144333 YBX1P10 Y box binding protein 1 pseudogene 10 9 9 9 p13.1 35904511 35906024 - 35960825 35962525 - 35970941 35972454 - 7628487 158373 ABBA01023129;AL135841;AMYH01019347;NG_003008 1791840;5021326 PMC127671P1;Ybx1 BA327L3.4 pseudo 42432 INFERRED 1626569 YBX1P2 Y box binding protein 1 pseudogene 2 7 7 7 q22.3 100027420 100028958 - 105009540 105011090 - 105222302 105223854 - 6480464 21906983 646531 AACC02000004;ABBA01057943;AC073073;AMYH01017819;CH236947;NG_006863 1791840 PMC127671P1 pseudo 22635 INFERRED 5687833 YBX1P3 Y box binding protein 1 pseudogene 3 3 q13.31 114649388 114650296 + 100861556 ABBA01061634;AC092915;AMYH01013402;NG_032054 pseudo 42424 INFERRED 1314421 YAP1 Yes-associated protein 1 This gene encodes the human ortholog of chicken YAP protein which binds to the SH3 domain of the Yes proto-oncogene product. This protein contains a WW domain that is found in various structural, regulatory and signaling molecules in yeast, nematode, and mammals, and may be involved in protein-protein interaction. [provided by RefSeq, Jul 2008] 11 11 q13 101486541 101609359 + 101981192 102104154 + 1580863;6480464;6484113 20219076;21364637;7644498;19111660;19015275;18953429;18725387;18701449;18640976;18617895;18413746;18280240;18175224;18158288;17980593;17889654;17823615;17502622;17438369;17110958;17081983;16964243;16894141;16772533;16596258;16061658;15800888;15324660;15302935;15096513;15023535;12807903;12535517;22544757;22895435;22843909;22499345;21454516;12477932;12118366;11743730;11358867;11278685;11278422;10562288;10228168;9305852;9202023;7782338;19158374;11604498;15893728;21112960;21654799;21224387;17974916;18703216;19371381;19615732;19705503;19914168;19935651;19952108;20016275;20048001;20153295;20226166;20379614;20823509;21205866;20842732;20729916;20868367;21116278;20677011;20947521;21041411;21118971;21170084;21076472;21187284;22863883;23178811;22707013;23245941;23058008;21666501;21708480;22939629;22993325;21317925;21610251;23027379;21346147;15161933;21856745;21981024;21900206;21909427;22385262;22396793;22632819;21685940;22308035;22337891;19322201;19797269;20841485;21383157;21685363;22558212;22609549;21800344;21139048;21906983;22012126;22024089;21399893;22042863;22096589;22098159;22234184;21874045;22056638;22939869;18565851;19047365;19919647;22885925;22436626;22618028;22863277;22641346;23232767;23396260;23449627;23532963;23564455;22286761;23298488;23298489;21041410;21832154;22689061;17889669;22017875;22921829;23060277;22948661 10413 B7ZA01;E3WEB6;E9PRV2;F5H202;H0YCI3;P46937;Q86T74 AA854862;AB567720;AB567721;ABBA01039941;ABBA01039942;ABBA01039943;ABBA01039944;ABBA01039945;ABBA01039946;ABBA01039947;AI128142;AK300414;AK304485;AK310620;AK316116;AL832620;AMYH01003991;AP000942;AP001527;AP002777;AY316529;BC026212;BC038235;BU073244;CH471065;CX780993;DC419625;HE864160;HE864161;HE864162;HE864163;JA780906;JA780908;NG_029530;NM_001130145;NM_001195044;NM_001195045;NM_006106;X80507 AAH38235;AAP92710;BAG62143;BAG65295;BAH14487;BAJ41471;BAJ41472;CAA56672;CAD89963;CCH22597;CCH22598;CCI79619;CCI79620;CCI79621;CCI79622;EAW67011;EAW67012;EAW67013;EAW67014;EAW67015;NP_001123617;NP_001181973;NP_001181974;NP_006097;P46937 Hs.503692 1340595;1342105;1675830;1676590;1688869;1704672;1718849;1748471;1753177;2121891;2127199;7186499 D11S1339;D11S1762;D11S2249E;HUM000S656;RH123128;RH41050;RH47129;RH91842;SHGC-110032;SHGC-32695;SHGC-77975 YAP;YAP2;YAP65;YKI 65 kDa Yes-associated protein;OTTHUMP00000235694;OTTHUMP00000235695;OTTHUMP00000235696;OTTHUMP00000235697;Yes-associated protein 1, 65kDa;yes-associated protein 2;yes-associated protein beta;yes-associated protein delta;yorkie homolog APPROVED protein-coding ENSG00000137693 16262 09424 606608 REVIEWED 5687832 YBX1P5 Y box binding protein 1 pseudogene 5 5 q13.2 71713387 71714161 + 100861569 ABBA01061905;AC093278;AMYH01015402;NG_032056 pseudo 42426 INFERRED 5144729 YBX1P6 Y box binding protein 1 pseudogene 6 9 9 9 q31.3 82794460 82795913 - 111334974 111337400 - 112294953 112296751 - 402375 ABBA01042761;AL162733;AMYH01021622;AMYH01021623;NG_030460 pseudo 42427 INFERRED 5685723 YBX1P7 Y box binding protein 1 pseudogene 7 2 133246128 133246968 - 100861431 ABBA01028213;AC098800;AMYH01011109;NG_032001 pseudo 42428 INFERRED 5686984 YBX1P8 Y box binding protein 1 pseudogene 8 X p11.23 46544223 46544933 - 100861476 ABBA01052241;AL022165;AMYH01022252;NG_032031 FLJ20344 pseudo 42429 INFERRED 5144723 YBX1P4 Y box binding protein 1 pseudogene 4 7 7 7 q36.1 146383481 146384301 + 151455449 151457768 + 151825922 151826741 + 100131012 ABBA01035141;AC006017;AMYH01018149;NG_011685 2183661 STS-AA004589 pseudo 42425 INFERRED 5686948 YBX1P9 Y box binding protein 1 pseudogene 9 1 q42.12 226505715 226506404 - 100861470 ABBA01009641;AL359742;AMYH01001779;NG_032027 pseudo 42430 INFERRED 1318661 YBEY ybeY metallopeptidase (putative) 21 21 21 q22.3 32818701 32831436 + 46530695 46542093 + 47706267 47717665 + 6480464 16341674;12477932;11707072;10830953;20877624;18624398 54059 P58557;Q8TBC8 ABBA01021761;ABBA01021762;AI262212;AK128875;AK294975;AMYH01012336;AMYH01012337;AP000471;AY040873;AY040874;AY040875;AY040876;BC022828;BC068100;BC119770;BC122865;BC131553;BG473705;BM796288;CH471079;NM_001006114;NM_058181 AAH22828;AAI19771;AAI22866;AAI31554;AAK74138;AAK74139;AAK74140;AAK74141;BAH11937;EAX09288;EAX09289;EAX09290;EAX09291;EAX09292;EAX09293;EAX09294;EAX09295;NP_001006114;NP_478061;P58557 Hs.474066 1673018;2182680 SHGC-52108;SHGC-87728 C21orf57;FLJ46907 OTTHUMP00000115778;OTTHUMP00000115779;OTTHUMP00000115780;OTTHUMP00000115782;OTTHUMP00000115783;putative metalloprotease C21orf57;putative ribonuclease;rRNA maturation factor homolog APPROVED protein-coding ENSG00000182362 1299 10754 VALIDATED 1346098 YBX3P1 Y box binding protein 3 pseudogene 1 16 16 p11.2 31486589 31488369 - 31579088 31580845 - 10343102 440359 ABBA01042098;AC106730;AI183563;AMYH01007509;BI826429;DB451883;DB459603;DB520886;DB525052;NR_027011;Y17508 Hs.650902 1685892;1725805;1736542;1853284;2151003;2173601 D16S2544E;G07129;G61989;IB391;RH69102;WI-20104 CSDAP1 APPROVED pseudo 2429 PROVISIONAL 1314010 YAF2 YY1 associated factor 2 The protein encoded by this gene interacts with YY1, a zinc finger protein involved in negative regulation of muscle-restricted genes. This gene product itself contains a single N-terminal C2-X10-C2 zinc finger, and in contrast to YY1, is up-regulated during myogenic differentiation. It also facilitates proteolytic cleavage of YY1 by the calcium- activated protease, m-calpain, suggesting a mechanism by which this protein antagonizes the negative effect of YY1. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] 12 12 12 q12 41352740 41433972 - 40837173 40918317 - 42550906 42632154 - 6480464 9016636;11593398;12706874;19240061;17081983;15489334;12477932;12004135;11953439;21145461;20379614;16344560;18029348;22325352;21530438;21890473 10138 A6NL56;F8VRE5;F8VZR2;F8W0B9;G3V1X5;G3V212;G3V219;J3KNM5;Q8IY57 AA789222;ABBA01031396;ABBA01031397;ABBA01031398;AC020629;AI654632;AK127531;AK291355;AK294260;AK296191;AMYH01004400;AMYH01004401;AMYH01004402;AMYH01004403;BC037777;BX649019;CH471111;DA011078;DA491895;NM_001190977;NM_001190979;NM_001190980;NM_005748;NR_034000 AAH37777;ABZ92154;ABZ92285;BAF84044;BAG57554;BAG58921;EAW57834;EAW57835;EAW57836;EAW57837;EAW57838;EAW57839;EAW57840;NP_001177906;NP_001177908;NP_001177909;NP_005739;Q8IY57 Hs.649195;Hs.708084 1856855;2118145;2219760;5017601;5022651;5037552 D11S2921;D12S1198E;D12S1424;D8S2279;YAF2;YAF2__4917 DKFZp779H1820;MGC41856 OTTHUMP00000240953;OTTHUMP00000240954;OTTHUMP00000240955;YY1-associated factor 2 APPROVED protein-coding ENSG00000015153 17363 09606 607534 REVIEWED 1316914 YARS tyrosyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008] 1 1 p35.1 33013427 33056220 - 33240840 33283633 - 1580863;6480464;7240710 10102815;17353931;9162081;18096501;16429158;15840810;15779907;15489334;14702039;14671330;14606043;12665801;12509991;12477932;12427973;12416978;12016229;11956181;11927599;11856731;10438485;9427763;8552597;21319273;8125298;18029348;19477417;19561293;22863883;22939629;16196087;21732632;22291016;20639865;21442253;20972266;21139048;21890473;21906983;19738201;21963094;22623428;23000965;17676665;22053931;22505724 8565 P54577 ABBA01023398;ABBA01023399;ABBA01023400;ABBA01023401;ABBA01023402;ABBA01023403;ABBA01023404;AC114489;AC114493;AK026535;AK125213;AK126444;AK127182;AK127879;AK223608;AMYH01000470;AMYH01000471;AMYH01000472;BC001933;BC004151;BC016689;BC035242;CH471059;HB892438;HB904994;HB909583;HB931028;HC949847;HC962403;HC966992;HC988437;HI179134;NG_008408;NM_003680;U40714;U89436 AAB39406;AAB88409;AAH01933;AAH04151;AAH16689;ABM82592;ABM85779;BAD97328;BAG54166;CBF71274;CBF84232;CBF89282;CBG00408;CBU95132;CBV01176;CBV03421;CBV13928;CBX53875;EAX07506;EAX07507;EAX07508;NP_003671;P54577 Hs.213264 1643937;1659521;1666576;1781110;1848292;1854752;2108645;2134998;2185414;2187658;5014051;5015619;5015861;5015961;5022578;5022651;5024039;5024510;5037552;7183248;7185938 AL009604;D10S16;D11S2921;D11S3114;D13S1552;D15S1477;D16S325;D1S1423;D1S233;D5S1389;D8S2278;D8S2279;RH64745;SHGC-74484;SHGC-74542;SHGC-74549;SHGC-74550;STS-R16166;YARS_8832;stdJ1070N10T7 CMTDIC;TYRRS;YRS;YTS OTTHUMP00000004027;tyrosine tRNA ligase 1, cytoplasmic;tyrosine--tRNA ligase, cytoplasmic;tyrosyl--tRNA ligase;tyrosyl-tRNA synthetase, cytoplasmic APPROVED protein-coding ENSG00000134684 12840 09153 603623;608323 REVIEWED 6481197 YEATS2-AS1 YEATS2 antisense RNA 1 100874113 AC131160 APPROVED miscrna 41101 1604990 YDJC YdjC homolog (bacterial) 22 22 22 q11.21 5799918 5801880 - 20312378 20314340 - 21982378 21984340 - 6480464 18177738;12477932;21383967;20190752;21102463;21963094;23128233;23222517;22505724 150223 A8MPS7 ABBA01055055;AMYH01012636;AP000553;BC017281;BC053663;BC057814;BC096754;BC110075;BC110799;BC133043;BC133047;BI597711;BQ050386;CH471095;NM_001017964 A8MPS7;AAI10076;AAI33044;AAI33048;EAW59461;EAW59462;EAW59463;EAW59464;NP_001017964 Hs.355952 1681690 RH94069 MGC133160 OTTHUMP00000198563;UPF0249 protein ydjC homolog;YdjC homolog protein-coding ENSG00000161179 27158 18559 VALIDATED 1606290 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011] 12 12 12 p11.21 12720156 12729572 - 32790726 32800141 - 32899478 32908887 - 6480464;7240710 15779907;17353931;10810093;17997975;17672918;15840810;21145461;15489334;14702039;12477932;20598274;16344560;8889548;20877624;19615732;22939629;20186120;21963094;20360068;21139048;22504945 51067 H0YHS6;Q9Y2Z4 ABBA01031704;AC087588;AF132939;AI861961;AK024057;AK026619;AK130935;AMYH01004374;BC015625;BM979973;CF594113;CH471116;DA748673;EB386795;NG_028122;NM_001040436 AAD27714;AAH15625;ABM83989;ABM87314;BAB14806;EAW88517;EAW88518;NP_001035526;Q9Y2Z4 Hs.505231;Hs.706015 2183680 G35326 CGI-04;FLJ13995;MLASA2;TYRRS;mt-TyrRS OTTHUMP00000241174;tyrosine tRNA ligase 2, mitochondrial;tyrosine--tRNA ligase;tyrosine--tRNA ligase, mitochondrial;tyrosyl-tRNA synthetase, mitochondrial APPROVED protein-coding ENSG00000139131 24249 13025 610957;613561 REVIEWED 1346157 YESP v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene 22 22 22 q12.1 9847285 9852179 + 24373112 24378088 + 26043108 26048002 + 3137198 7526 ABBA01055181;AL022329;AMYH01012680;D00333;NG_001213 1680242;1682121;2168077 D22S1032;RH27881;RH69573 D22S670;SYR;YES2 pseudo 12842 INFERRED 732883 YBX1 Y box binding protein 1 1 1 p34 42920653 42940607 + 43148066 43168020 + 1580637;1580630;6480464 14604279;16002047 18851979;18809583;18800033;18571458;18377424;18316615;18307537;18258596;18172301;18075498;17967494;17822788;17686777;17595327;17572683;17459055;17418094;17339575;17081983;16508950;16455055;16415342;16354698;16101161;16093352;15806160;15735691;15702969;15615704;15592455;15489334;15327898;15146197;15146077;15136035;15123725;14752049;14718551;1738588;12674497;15229244;3174636;12226669;19517610;19323802;19151767;19098458;18978732;14559993;12917425;12743601;12695516;12646178;12604611;12565174;12477932;12379116;12192037;12168660;12080043;11973333;11907223;11851341;11788582;11751932;11731270;11698476;11175333;11162447;10906122;10817758;10809782;10573156;10318844;9927044;9830047;9472608;9461420;9409758;8657568;8254772;8188694;7862639;7651426;7628487;2977358;1891370;17267499;21145461;22674792;22843890;15750632;10559330;10082537;16198352;16251272;16797541;17289661;17643375;18335541;19029303;19411069;19483673;19648825;19713745;19838214;19901122;19930682;19996271;20004191;20011972;20017303;20190818;20332234;8871564;20398058;20599698;20596676;20696395;16055720;16159877;19454010;20838384;20844753;20929326;20431927;21067243;21344396;20856196;19167051;21083641;19135240;21151833;21695211;21138866;21170361;19523114;21182205;22863883;22990118;23216250;22284440;20929136;22939629;22730292;21369783;19561594;21245151;19174163;21595987;18029348;21652770;23178914;23402259;23455922;23463506;22095225;12777385;15840729;19343720;21518489;16196087;21423216;21730024;21849455;22134169;22855482;18781797;20972266;21139048;21890473;21906983;21963094;21987572;22118674;22967496;22590640;21630125;21968648;21392397;22095791;22145905;21781495;22280412;17361185;20972445;17332742;22417301;19036157;21987172;22215526;22339596;17620599;22615490;22619371;23462806;17674968;19738201;19805454;21150319;21282530;21565611;21642987;21988832;22113938;22365833;22623428;22772059;23000965;23084401;23151878;23184937;23438482;21909940;23285076;23398456;23499936;22519956;22053931;22505724;22787154;22797925 4904 C9J5V9;H0Y449;P67809 ABBA01023129;ABBA01050974;AC098484;AK309996;AK311708;AMYH01000551;AMYH01000552;BC000064;BC002411;BC010430;BC013838;BC015208;BC018393;BC020164;BC038384;BC065571;BC070084;BC071708;BC072014;BC090038;BC098435;BC106045;CH471059;CN353145;J03827;L28809;M24070;M83234;M85234;NM_004559;X96666;Z70765 AAA20871;AAA35750;AAA36569;AAA59949;AAA61308;AAH00064;AAH02411;AAH10430;AAH15208;AAH18393;AAH20164;AAH38384;AAH65571;AAH70084;AAH71708;AAH72014;AAH90038;AAH98435;AAI06046;ABM82535;ABM85728;CAA65446;EAX07148;EAX07149;NP_004550;P67809 Hs.473583 1692196;1766141;1791840;5021326;5024642 AL033735;PMC127671P1;RH79815;SHGC-149519;Ybx1 BP-8;CSDA2;CSDB;DBPB;MDR-NF1;MGC104858;MGC110976;MGC117250;NSEP-1;NSEP1;YB-1;YB1 CBF-A;CCAAT-binding transcription factor I subunit A;DNA-binding protein B;EFI-A;OTTHUMP00000008731;OTTHUMP00000008732;OTTHUMP00000038221;Y-box transcription factor;Y-box-binding protein 1;enhancer factor I subunit A;major histocompatibility complex, class II, Y box-binding protein I;nuclease sensitive element binding protein 1;nuclease-sensitive element-binding protein 1 protein-coding ENSG00000065978 8014 01095 154030 VALIDATED 1606288 YBX2 Y box binding protein 2 This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012] 17 17 17 p13.1 7216218 7222523 - 7132295 7138600 - 7191571 7197876 - 6480464 10100484;18372033;18339382;16624424;16479255;16344560;15489334;14702039;12477932;9780336;20378615;16751776;21906983;22505724 51087 I3L2D6;Q9Y2T7 AB208818;ABBA01054857;AC003688;AF096834;AI805280;AK092747;AK315035;AMYH01008075;BC033800;BC047760;CH471108;DB065912;NM_015982 AAD30662;AAH33800;AAH47760;BAD92055;BAG37519;EAW90223;EAW90224;EAW90225;NP_057066;Q9Y2T7 Hs.567494 1652841;2182995 RH78284;STS-T79836 CONTRIN;CSDA3;DBPC;MGC45104;MSY2 DNA-binding protein C;MSY2 homolog;Y-box-binding protein 2;germ cell specific Y-box binding protein;germ cell-specific Y-box-binding protein APPROVED protein-coding ENSG00000006047 17948 18311 611447 VALIDATED 1347752 YEATS2 YEATS domain containing 2 YEATS2 is a scaffolding subunit of the ADA2A (TADA2A; MIM 602276)-containing (ATAC) histone acetyltransferase complex (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010] 3 3 3 q27.1 181858780 181973588 + 184898300 185013102 + 183415606 183530413 + 1580863;6480464 15489334;15302935;14702039;12477932;10574462;19505873;18838386;20379614;22939629;19471022;21139048;21693764;21906983;22145905;21252943;21963094 55689 H0Y6M6;Q9ULM3 AB033023;ABBA01058472;ABBA01058473;AC068769;AC131160;AK001063;AK022903;AK023370;AK090720;AK091654;AMYH01013709;BC009276;BC032368;BC043393;BC082270;BC150273;CA416892;CH471052;NM_018023 AAH32368;AAH82270;AAI50274;BAA86511;BAB14546;EAW78315;EAW78316;EAW78317;NP_060493;Q9ULM3 Hs.632575 1339688;1656403;1686382;1762799;1766301;1849189;2116464;2116466;2169713;2172113;5015881;5016478;5022450;5022578;5022651;5037552;5109281;5491360 D10S275;D11S2921;D18S817;D1S1423;D1S1425;D3S3830;D3S4245;D8S2279;FH3117;GDB:335751;GDB:434012;RH93286;SHGC-146579;SHGC-149652;SHGC-77589;SHGC-77593;SHGC-77596;STS-R06585 FLJ10201;FLJ12841;FLJ13308;FLJ33401;FLJ34335;KIAA1197 OTTHUMP00000210964;YEATS domain-containing protein 2 APPROVED protein-coding ENSG00000163872 25489 07652 613373 VALIDATED 733766 YBX3 Y box binding protein 3 12 12 p13.1 10742955 10767171 - 10851676 10875953 - 1580863;2311250;6480464 11750989 22159460;8710501;2977358;7628487;19328795;19240061;17081983;16508013;16344560;16094384;15592429;15489334;15302935;14728692;12477932;12239625;10343102;9442396;8871564;11799066;21145461;22711822;16198352;17643375;19710015;19734347;19749785;20133480;16159877;23084401;20431927;22939629;16196087;18029348;17620599;18781797;19322201;21628590;19369198;21139048;21473684;21890473;21906983;21963094;19805454;21282530;21642987;21987572;22053931;23000965;23151878;23398456;15313206;21182205;22863883;22990118;22505724 8531 H0YG22;P16989 AA621593;AB209896;ABBA01067806;AC021049;AK314846;AMYH01004280;AU117252;BC008801;BC009744;BC015564;BC015913;BC021926;BC150580;CH471094;L29064;M24069;NM_001145426;NM_003651;X72712;X95325 AAA35749;AAA79243;AAH08801;AAH09744;AAH15564;AAH15913;AAH21926;ABM83612;ABM86856;BAD93133;BAG37363;CAA51261;CAA64631;EAW96201;EAW96202;EAW96203;EAW96204;EAW96205;NP_001138898;NP_003642;P16989 Hs.221889 1681472;1685892;1725805;1726079;1736542;1853284;2151003;2173601 D16S2544E;G07129;G61989;G62320;IB391;RH69102;RH92531;WI-20104 CSDA;CSDA1;DBPA;ZONAB DNA-binding protein A;OTTHUMP00000238732;OTTHUMP00000238733;Y-box-binding protein 3;ZO-1-associated nucleic acid-binding protein;cold shock domain protein A;cold shock domain-containing protein A;cold-shock domain containing A1;cold-shock domain protein A;single-strand DNA-binding protein NF-GMB APPROVED protein-coding ENSG00000060138 2428 10347 603437 VALIDATED 1353043 YEATS4 YEATS domain containing 4 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. [provided by RefSeq, Jul 2008] 12 12 q13-q15 68039799 68070843 + 69753532 69784576 + 1580863;6480464 10913114;9302258;18591461;18391951;18214854;12477932;11903063;11901157;11756182;11521196;8733125;16705155;15647280;15489334;15196461;14966270;14702039;12963728;12620397;20618999;16387653;16698963;17643375;19454010;21317290;23509962;22939629;21139048;21890473;21906983;22068108;22467210;22619067;23503679 8089 F8VTR4;F8W0J4;F8W1B9;O95619 ABBA01026542;AC117502;AJ245746;AK001413;AMYH01004565;AMYH01004566;BC000994;CH471054;NM_006530;U61384 AAD12188;AAH00994;ABZ92455;BAA91678;CAC01935;EAW97223;EAW97224;NP_006521;O95619 Hs.4029 1730359;2108647;7185457 D12S107E;YEATS4_8778 4930573H17Rik;B230215M10Rik;GAS41;NUBI-1;YAF9 NuMA binding protein 1;OTTHUMP00000240879;OTTHUMP00000240880;OTTHUMP00000240882;YEATS domain-containing protein 4;glioma-amplified sequence 41;glioma-amplified sequence-41;nuBI1;nuMA-binding protein 1 APPROVED protein-coding ENSG00000127337 24859 03666 602116 REVIEWED 1604767 YIF1B Yip1 interacting factor homolog B (S. cerevisiae) 19 19 19 q13.2 35596436 35608842 - 43487584 43498446 - 38794200 38806606 - 6480464 12975309;12477932;11181995;8889548;17207965;22939629;18781797;21139048;21906983 90522 K7EJQ6;K7EPQ7;K7ERQ0;K7ERY2;Q5BJH7;Q9H5F7 ABBA01040678;AC011479;AF258578;AK027130;AK304479;AL833382;AMYH01009779;AMYH01009780;AW630507;AY358965;BC007644;BC014974;BC025257;BC091477;BG765536;BM703847;C02248;CA487891;CF127536;CH471126;NM_001039671;NM_001039672;NM_001039673;NM_001145461;NM_001145462;NM_001145463;NM_033557 AAG23781;AAH07644;AAH14974;AAH25257;AAH91477;AAQ89324;ADQ31664;BAB15669;BAH14197;CAI46138;EAW56771;EAW56772;EAW56773;EAW56774;NP_001034760;NP_001034761;NP_001034762;NP_001138933;NP_001138934;NP_001138935;NP_291035;Q5BJH7 Hs.280741 1685772;1728323;5037552 D8S2279;G63443;RH94089 FLJ23477;FLJ50074;FinGER8;MGC39135 YIP1-interacting factor homolog B;protein YIF1B protein-coding 30511 11277 VALIDATED 732225 YIF1A Yip1 interacting factor homolog A (S. cerevisiae) 11 11 11 q13 63371864 63376451 - 65808627 65813148 - 66052051 66056638 - 634527;1580863;6480464 10970842 15308636;18718466;16344560;15990086;15489334;12477932;11943201;11099500;8824393;8125298;18029348;21900206;21987572;21139048;21906983;21926972;22645275 10897 A6NGW1;A8K509;C9JST7;E9PIZ0;E9PK42;E9PP02;E9PS11;F8W9A1;O95070 ABBA01024086;AF004876;AK226003;AK291124;AK308988;AK310521;AMYH01003732;AP001107;BC001299;BC009892;CH471076;CQ834898;CR456710;DB085949;NM_020470;S83365 AAB50850;AAD01206;AAH01299;AAH09892;BAF83813;CAG32991;CAH05664;EAW74509;NP_065203;O95070 Hs.446445 1645405;2140230;2154036;2191589 MARC_26754-26755:1034172688:10;SGC34590;SHGC-64947;STS-R15443 54TM;FinGER7;YIF1;YIF1P 54TMp;OTTHUMP00000128268;OTTHUMP00000128270;OTTHUMP00000128271;OTTHUMP00000128272;YIP1-interacting factor homolog A;protein YIF1A;putative Rab5-interacting protein;putative transmembrane protein 54TMp protein-coding ENSG00000174851 16688 06755 611484 VALIDATED 1321347 YES1 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] 18 18 p11.31-p11.21 711592 802327 - 721592 812327 - 1580863;6480464;6484113 1715582;17254967;18328427;2436037;19240061;17898870;17692281;17418139;17192257;17143518;17109515;17081983;17007035;16880514;16439366;16400523;16344560;16289864;16094384;15951569;15592455;15588985;15489334;15148312;15039424;14980517;12846735;12538589;12509223;12477932;12456296;12138090;12080032;11950934;11901164;11684709;11546805;11312300;11278422;11127814;11071635;11039464;10858437;10562288;10339567;9892651;9794236;8918464;8889548;8702385;8449516;7929439;7685273;7681396;7641887;7537495;7521304;3332005;2983418;2267131;2067846;1720539;1544885;1384720;12558988;12640114;12668668;21454696;15557335;16374509;19258394;19267251;19797678;19807924;19893451;20056178;20098684;9632142;18029348;19757166;20796316;16434389;21190720;21390316;22939629;20360068;19953087;21139048;21890473;10829062;15190072;19322201;16537602;17620599;22623531;22745667;21309750;15231748;16964398;18067320;19738201;21963094;22430206;22936677;22939624;23000965;23398456;23541324;22948717 7525 J3QRU1;P07947 ABBA01049818;AK314063;AMYH01008773;AP000894;AP001020;AP001178;AU123956;BC031080;BC048960;BM969640;BU753688;CH471113;H80401;M15990;NM_005433 AAA35735;AAH48960;BAG36767;EAX01709;EAX01710;NP_005424;P07947 Hs.194148 1664182;1680242;1742387;1852221;2128835;2135884;2153602;2168077;5021024;5022200;5022578;5022651;5037552 D11S2921;D18S1274;D1S1423;D22S1032;D8S2279;GDB:196598;L18426;RH65978;RH68784;RH69080;RH69573;STS-M15990;STS-R69158 HsT441;P61-YES;Yes;c-yes OTTHUMP00000162194;Yamaguchi sarcoma oncogene;cellular yes-1 protein;proto-oncogene c-Yes;proto-oncogene tyrosine-protein kinase Yes;tyrosine-protein kinase Yes APPROVED protein-coding ENSG00000176105 12841 01285 164880 REVIEWED 1604013 YIPF1 Yip1 domain family, member 1 1 1 1 p33-p32.1 52605075 52643123 - 54089994 54128041 - 54317392 54355487 - 6480464 11256614;16381901;15489336;15489334;15466293;14702039;12477932;11230166;11076863;22719876;15146197;21890473;21906983 54432 B7Z6F5;C9JFB2;Q9Y548 ABBA01074729;ABBA01074730;AK000823;AK300240;AK315183;AL031427;AL391003;AL596480;AL713668;AMYH01000631;BC009674;BC064590;BI757212;CH471059;CN308348;NM_018982;NR_036639;NR_036640 AAH09674;AAH64590;BAA91389;BAG37624;BAH13241;CAD28474;CAL37672;EAX06727;EAX06728;EAX06729;EAX06730;NP_061855;Q9Y548 Hs.731661 1339526;1690510;1773463;1853600;2170637 AL009506;D1S2661;RH35802;RH80519;SHGC-64267 DJ167A19.1;FinGER1 OTTHUMP00000009748;OTTHUMP00000010047;YIP1 family member 1;protein YIPF1 protein-coding ENSG00000058799 25231 13147 VALIDATED 1604600 YIPF2 Yip1 domain family, member 2 19 19 19 p13.2 10928285 10934198 - 10894444 10900357 - 11033444 11039357 - 6480464 11256614;16381901;16189514;15489336;15489334;12477932;11076863;19322201 78992 K7EIP7;K7EJN9;K7EL70;K7EM92;K7ENM8;K7ENZ5;K7EQH3;K7ERW0;Q9BWQ6 ABBA01029885;AC011442;AMYH01009480;BC000056;BC013014;CH471106;NM_024029 AAH00056;AAH13014;CAL37510;EAW84157;EAW84158;EAW84159;NP_076934;Q9BWQ6 Hs.720136 1657748;1684954;1713683;2162847 G09492;RH120724;RH80445;STS-AA004344 FinGER2;MGC3262 YIP1 family member 2;protein YIPF2 protein-coding ENSG00000130733 28476 11332 PROVISIONAL 1317816 YIPF3 Yip1 domain family, member 3 6 6 6 p21.1 45031186 45036349 - 43587543 43592680 - 43479565 43484728 - 6480464 11256614;16381901;15489336;15489334;14702039;14574404;12490290;12477932;11230166;11076863;16189514;16341674;18029348;21757827;21903422;21987572;21890473;21906983;22505724 25844 D6RA04;D6RAY4;D6RBQ1;D6RFI3;D6RGY8;E7EQR8;H0Y9A1;Q9GZM5 ABBA01050679;ABBA01050680;AF162672;AK000946;AK021433;AK021655;AK022757;AK298150;AK308961;AL050274;AL355802;AMYH01016314;BC019297;BE562740;BM836904;CA308984;CH471081;CR533541;DC387416;NM_015388 AAH19297;AAM21161;BAA91439;BAB13824;BAB13866;BAB14231;BAG60426;CAB43375;CAG38572;CAL38524;CAL38604;EAX04203;NP_056203;Q9GZM5 Hs.440950 2154952;2159452;2186339 D6S2069;RH46607;STS-D29507 C6orf109;DKFZp566C243;FinGER3;KLIP1;RP3-337H4.3;dJ337H4.3 OTTHUMP00000016461;OTTHUMP00000016462;OTTHUMP00000016463;OTTHUMP00000217265;OTTHUMP00000217266;OTTHUMP00000217267;OTTHUMP00000217268;OTTHUMP00000217272;killer lineage protein 1;natural killer cell-specific antigen KLIP1;protein YIPF3 protein-coding ENSG00000137207 21023 09852 609775 VALIDATED 1604708 YIPF7 Yip1 domain family, member 7 4 4 4 p12 45072378 45101680 - 44319111 44348415 - 44624354 44653658 - 6480464 16344560;14702039;12477932;9847074 285525 J3KR00;Q8N8F6 ABBA01014311;AC093852;AC096586;AC108478;AK096895;AMYH01014143;BC103995;BC103996;CH471069;DB299886;NM_182592 AAI03996;AAI03997;BAC04887;EAW93015;EAW93016;NP_872398;Q8N8F6 Hs.596000 1853212;1854359 SHGC-10616;SHGC-50721 FLJ39576;FinGER9;MGC120164 OTTHUMP00000219755;YIP1 family member 7;five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 9;protein YIPF7 protein-coding ENSG00000177752 26825 08259 VALIDATED 1602093 YIPF5 Yip1 domain family, member 5 5 5 5 q31.3 139619111 139631663 - 143517919 143530387 - 143537726 143550278 - 6480464 11489904;18718466;15990086;15922870;15611160;15592455;15498874;15489334;15342556;14702039;12975309;12477932;8125298;20237155;19509059;19845895;17207965;23342155;21903422;21139048 81555 E5RGR9;E5RHH4;Q969M3 AA811265;AB014733;ABBA01026359;AC008383;AF140225;AF318329;AK054576;AK124065;AK223515;AK307251;AMYH01015672;AY037152;AY358863;AY640925;AY640926;AY640927;AY640928;AY640929;AY640934;BC007829;BC014253;BC024737;BP310538;BX647859;CH471062;CR749463;NM_001024947;NM_001271732;NM_030799 AAG48521;AAH07829;AAH14253;AAH24737;AAK67644;AAL55836;AAQ89222;AAV51256;AAV51257;AAV51258;AAV51259;AAV51260;ADQ31662;BAB20270;BAB70763;BAD97235;BAG53996;CAH18295;EAW61863;EAW61864;EAW61865;NP_001020118;NP_001258661;NP_110426;Q969M3 Hs.372050 1657240;1661502;1670200;2187413;5022200 L18426;RH45973;STS-AA040621;STS-N40203;STS-N54466 DKFZp313L2216;FinGER5;SB140;SMAP-5;SMAP5;YIP1A OTTHUMP00000160087;OTTHUMP00000223243;OTTHUMP00000223244;OTTHUMP00000225743;YIP1 family member 5;YPT-interacting protein 1 A;five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5;golgi membrane protein SB140;protein YIPF5;smooth muscle cell associated protein 5;smooth muscle cell-associated protein 5 protein-coding ENSG00000145817 24877 18071 611483 VALIDATED 1605821 YIPF6 Yip1 domain family, member 6 X X X q12 68070045 68103397 + 67635611 67669026 + 67718624 67757127 + 6480464 18029348;11256614;16381901;16189514;15772651;15489336;15489334;14702039;12477932;11076863;15146197;23142642;19322201 286451 B1AV70;Q96EC8 ABBA01067362;ABBA01067363;ABBA01067364;AK024673;AK026979;AK095555;AK292835;AK303992;AL117461;AL672138;AL928603;AMYH01022519;BC012469;CH471132;CN311465;NM_001195214;NM_173834 AAH12469;BAF85524;BAG64909;CAL38630;EAX05376;EAX05377;NP_001182143;NP_776195;Q96EC8 Hs.82719 1733406;2141784;2141941;2158964;2158966;2184562;2187034;5015619;5015861;5016478;5016700;5020274;5022450;5037552;5118576;7185938 A002S27;A006J32;A009F06;D10S16;D10S275;D11S3114;D11S3430;D8S2279;DXS6705;G20877;GDB:434012;L18441;RH79802;SHGC-17240;WI-20895 FinGER6;MGC21416;RP13-253K9.1 OTTHUMP00000023452;OTTHUMP00000023453;YIP1 family member 6;protein YIPF6 protein-coding ENSG00000181704 28304 06639 VALIDATED 1604267 YIPF4 Yip1 domain family, member 4 2 2 2 p22.3 32347749 32376450 + 32356535 32385145 + 32502958 32531658 + 6480464 11256614;16189514;15489336;15489334;14702039;12880961;12477932;11076863;16381901;15342556;8889548;20360068;21757827;21987572;21139048;21890473;21906983 84272 H7C0D5;H7C3X2;Q9BSR8 AB072898;ABBA01074882;AK098486;AL121653;AMYH01010229;AMYH01010230;BC004875;BP207600;BU608699;CH471053;NM_032312 AAH04875;BAC05315;BAE45710;CAL38397;EAX00448;EAX00449;EAX00450;NP_115688;Q9BSR8 Hs.468099 1734242;1769901;1855189;2144000;2179553;5123893 D2S1497E;RH11547;RH46370;SHGC-56665;SHGC-56786;WI-11827 FinGER4;MGC11061;Nbla11189 OTTHUMP00000158568;YIP1 family member 4;protein YIPF4;putative protein product of Nbla11189 protein-coding 28145 14410 VALIDATED 1349839 YME1L1P1 YME1L1 pseudogene 1 22 22 q11.1 14865295 14868078 - 16485396 16487979 - 10591208 23749 AMYH01012396;AP000535;NG_002636 YME1L2 APPROVED pseudo 12844 INFERRED 1605797 YJEFN3 YjeF N-terminal domain containing 3 19 19 19 p13.11 19543732 19552455 + 19500720 19509393 + 19639670 19648393 + 6480464 17533573;15489334;15057824;14702039;12477932 374887 A6XGL0;E7ENQ6;Q6ZT45 ABBA01051335;AC011448;AK094976;AK126916;AMYH01009609;BC020948;BC093948;BC112285;BI520231;BX097402;CH471106;DB551327;DQ778079;DQ778080;NM_001190328;NM_198537 A6XGL0;AAH93948;AAI12286;AAI48457;ABI63344;ABI63349;BAC86749;EAW84827;EAW84828;EAW84829;NP_001177257;NP_940939 Hs.729508 1794590;5493147 PMC321570P5;UniSTS:484449 FLJ44968;MGC138490 OTTHUMP00000221708;OTTHUMP00000221709;apolipoprotein A1 binding protein;hYjeF_N3;hYjeF_N3-19p13.11;yjeF N-terminal domain-containing protein 3;yjeF_N3 protein-coding ENSG00000250067 24785 13498 VALIDATED 735770 YKT6 YKT6 v-SNARE homolog (S. cerevisiae) This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008] 7 7 p15.1 44207103 44220418 + 44240578 44253893 + 6480464 15215310;15479160;9211930;16821082;16354670;16344560;15544955;15489334;15044687;14702039;14607937;12690205;12477932;12388752;11927603;11884350;11474112;8125298;17643375;18029348;22939629;21139048;21890473;21906983;23000965 10652 A4D2J0;B4DR94;H7C3K7;O15498 AACC02000110;AB451317;AB451447;ABBA01058215;AC006454;AF091079;AK075018;AK097209;AK223488;AK299158;AK312622;AMYH01017209;AU130339;BC007319;BT007078;CH236960;CH471128;CR456989;CR542008;NM_006555;U95735 AAB81131;AAC72948;AAH07319;AAP35741;ABM81579;ABM84759;BAD97208;BAG35508;BAG61206;BAG70131;BAG70261;CAG33270;CAG46805;EAL23763;EAW61111;EAW61112;EAW61113;NP_006546;O15498 Hs.520794 1652891;1777078;2110805;2131432;2167939 D7S2060E;GDB:594252;RH12548;STS-AA037832;YKT6_9161 OTTHUMP00000159348;OTTHUMP00000209267;OTTHUMP00000209268;R-SNARE;SNARE protein Ykt6;YKT6 v-SNARE protein;YKT6, S. cerevisiae, homolog of;prenylated snare protein;synaptobrevin homolog YKT6 APPROVED protein-coding ENSG00000106636 16959 16205 606209 REVIEWED 1604806 YOD1 YOD1 deubiquitinase Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] 1 1 1 q32.2 180468698 180475926 - 205283817 205291045 - 207217194 207224422 - 6480464;6907045 16710414;14702039;20435896;12477932;19615732;19818707;7644498;22118674;21139048;21906983;19322201;22053931;22505724;22626734 55432 Q5VVQ6 ABBA01048247;AK128014;AL445493;AL833081;AMYH01001680;BC137166;BC137167;CH471100;NM_001276320;NM_018566 AAI37167;AAI37168;BAC87233;CAD89975;EAW93509;NP_001263249;NP_061036;Q5VVQ6 Hs.567533;Hs.745490 1850470;2138185 AL009762;D8S2025 DKFZp451J1719;DUBA8;OTUD2;PRO0907;RP11-164O23.1 DUBA-8;HIN-7;HIV-1-induced protease 7;OTTHUMP00000034284;OTU domain containing 2;OTU domain-containing protein 2;YOD1 OTU deubiquinating enzyme 1 homolog ( yeast);hsHIN7;ubiquitin thioesterase OTU1 APPROVED protein-coding ENSG00000180667 25035 10312 612023 VALIDATED 1351286 YLPM1 YLP motif containing 1 14 14 14 q24.3 55268437 55342377 + 74299822 74373766 + 75230069 75304013 + 1302519;1580863;6480464 7596406 17890166;17081983;16344560;15511642;15489334;15302935;14702039;12508121;12477932;16169070;21145461;22558309;15231748;17148452;19041431;19615732;20562859;16055720;22939629;20360068;21078624;21139048;21890473;22321011;22108332;21628590;22586326 56252 P49750;Q8NF45 ABBA01030712;ABBA01030713;AC006530;AC007956;AK090435;AK095760;AK297582;AL832365;AMYH01005857;BC007792;BC023570;BC044636;BX102033;DB096717;L40396;L40400;L40403;NM_019589 AAC42006;AAC42008;AAF61275;AAH07792;AAH23570;AAH44636;AAI72585;BAC03416;BAG59971;NP_062535;P49750 Hs.531111 1658005;1663764;1740673;1852269;2117771;2121744;2138350;2155995;2165429;2168115;5093230 A004I09;A007A13;A009J47;D14S1173;D14S907;G32597;G35846;G36074;G36160;RH78917;WI-14687 C14orf170;ZAP;ZAP113;ZAP3 OTTHUMP00000241344;OTTHUMP00000241345;OTTHUMP00000241346;YLP motif-containing protein 1;ZAP113;nuclear protein ZAP;nuclear protein ZAP3 protein-coding ENSG00000119596 17798 VALIDATED 1604154 YPEL2 yippee-like 2 (Drosophila) 17 17 17 q22 53871908 53941133 + 54763835 54833877 + 57409053 57479095 + 6480464 19107206;15556292;15489334;14702039;12477932;20056645;20508983 388403 Q96QA6 AA604677;AB098736;ABBA01041376;ABBA01041377;ABBA01041378;AC091059;AF305195;AI540782;AK096866;AK097253;AL831930;AMYH01008518;AMYH01008519;BC127924;BC132884;BC132886;CH471109;NM_001005404 AAI27925;AAI32885;AAI32887;AAL09354;ADR83473;BAD51377;EAW94407;EAW94408;EAW94409;EAW94410;NP_001005404;Q96QA6 Hs.463613 1672831;1691778;1691784;1760361;1794016;2145720;2149836;2176735 G42245;G42249;PMC310730P4;RH71425;SGC35938;SHGC-141991;SHGC-33700;STS-T95031 DKFZp761C2021;FKSG4 DiGeorge syndrome-related protein;protein yippee-like 2 protein-coding ENSG00000175155 18326 15682 609723 VALIDATED 5131389 YRDCP1 yrdC domain containing (E. coli) pseudogene 1 9 9 67636120 67636742 - 97194916 97195538 - 100420501 AL358232;AMYH01021530;NG_023852 pseudo 39919 INFERRED 1347620 YPEL3 yippee-like 3 (Drosophila) 16 16 16 p11.2 72688182 72692085 + 30011136 30015022 - 30103635 30107537 - 6480464 21196260;15556292;15489334;14702039;12477932;20388804;20508983;21267786;21832049;21671470 83719 H3BME7;H3BNP5;H3BRF0;H3BUE2;P61236 AB098737;ABBA01013105;AC012645;AF305622;AK022409;AK026047;AMYH01007497;BC005009;BC050664;CH471238;NG_023283;NM_001145524;NM_031477 AAH05009;AAH50664;AAL09365;BAD51378;EAW79922;EAW79923;EAW79924;EAW79925;NP_001138996;NP_113665;P61236 Hs.513491 1680234;2155059;5111645 RH64991;RH81090;SHGC-57827 MGC10500 protein yippee-like 3 protein-coding ENSG00000090238 18327 15683 609724 VALIDATED 5685719 YRDCP3 yrdC domain containing (E. coli) pseudogene 3 21 42235944 42236396 + 10830953 100861429 ABBA01044672;AF043945;AMYH01012261;NG_031997 pseudo 39921 INFERRED 1351763 YPEL1 yippee-like 1 (Drosophila) This gene encodes a potential zinc-binding protein and is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein may play a role in the regulation of cellular morphology and may function during craniofacial development. [provided by RefSeq, Jul 2008] 22 22 22 q11.2 5869356 5907602 - 20381825 20420071 - 22051825 22090071 - 1580863;6480464 15556292;15489334;15461802;14702039;12477932;11473580;7757816;20379614;20508983 29799 B5MCX2;O60688 AB098734;AB098735;ABBA01055061;ABBA01055062;ABBA01055063;ABBA01055064;ABBA01055065;AF060862;AF305069;AI004498;AK096530;AMYH01012638;AP000553;AW006162;AW161786;BC015229;BC034486;BC048303;BC074501;BI461654;BI559478;BI836931;BQ422551;CH471095;CR456376;CR933630;NM_013313;Z41424 AAC15461;AAH34486;AAH74501;AAL09353;BAD51375;BAD51376;CAG30262;CAI45937;CAK54512;CAK54811;EAW59478;NP_037445;O60688 Hs.517436 1651470;1654695;1676154;1722001;2110045;2125646;2126813;2128404;2140969;2155843;2163238;5022450 A002V26;A006V27;D10S275;D22S1003E;D22S1014E;G31074;G59886;RH48265;RH77810;SHGC-34311;WI-13436;YPEL1_9589 FKSG3;MGC64992 DiGeorge syndrome-related protein;OTTHUMP00000198576;protein yippee-like 1 APPROVED protein-coding ENSG00000100027 12845 16277 608082 REVIEWED 5131393 YRDCP2 yrdC domain containing (E. coli) pseudogene 2 9 9 9 q22.33 67636120 67636742 - 98756981 98757564 + 99717118 99717740 + 100128237 ABBA01043564;AL158827;AMYH01021549;NG_021668 pseudo 39920 INFERRED 733459 YME1L1 YME1-like 1 ATPase The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 10 10 10 p14 27115834 27159778 - 27439389 27483327 - 27399040 27443349 - 1580863;727774;6480464 10843804 15489334;15164054;14702039;12975309;12477932;12214059;11042152;10930580;16385451;20877624;22939629;20186120;16344560;20972266;21139048;21890473;21906983;22262461;21963094;21988832;23000965 10730 Q5T8D1;Q5T8D2;Q6PJ89;Q96TA2;R4GNA5 ABBA01034402;ABBA01034403;AF018171;AF070656;AF151782;AI042625;AJ132637;AJ295618;AK001259;AK022930;AK291292;AK297973;AK309708;AK314372;AL160291;AL162272;AMYH01002204;AY358484;BC007795;BC019602;BC023507;BC024032;CH471072;DA395557;DA489399;HB871143;HB885661;HC928552;HC943070;NM_001253866;NM_014263;NM_139312 AAB70570;AAD20962;AAH07795;AAH19602;AAH23507;AAH24032;AAK57555;AAQ88848;BAF83981;BAG60283;CAB51858;CAB99462;CBF59687;CBF67033;CBU84931;CBU91906;EAW86068;EAW86069;EAW86070;EAW86071;EAW86072;NP_001240795;NP_055078;NP_647473;Q96TA2 Hs.499145;Hs.74647 1647941;1681221;1686881;1751399;1775366;2042242;2138320;2164037;2164039;5023453 A005X27;G20575;REN92160;RH25555;RH66293;RH93714;SHGC-105218;SHGC-32086;STS-N30424;T03326 FTSH;MEG4;PAMP;YME1L ATP-dependent metalloprotease FtsH1 homolog;ATP-dependent metalloprotease YME1L1;ATP-dependent zinc metalloprotease YME1L1;OTTHUMP00000019360;OTTHUMP00000019361;YME1-like protein 1;meg-4;presenilin-associated metalloprotease APPROVED protein-coding ENSG00000136758 12843 06981 607472 REVIEWED 1344237 YTHDF1P1 YTH domain family, member 1 pseudogene 1 5 5 5 q15 92589258 92591290 + 96730113 96733031 + 96704291 96706323 + 402220 ABBA01069220;AC106748;AMYH01015492;NG_004396 YTHDF1P APPROVED pseudo 31681 INFERRED 1345149 YPEL4 yippee-like 4 (Drosophila) 11 11 11 q12.1 54769044 54773901 - 57169137 57173993 - 57412560 57417417 - 1580863;6480464 15556292;15489334;14702039;12477932;20555386;20508983 219539 E9PNP5;E9PRC4;Q96NS1 AB098738;ABBA01021474;ABBA01021475;AK054775;AK054967;AK124577;AMYH01003652;AP000662;BC029228;BC064995;BC104781;BC111012;BC112119;CH471076;NM_145008 AAH29228;AAI04782;AAI11013;AAI12120;BAB70805;BAD51379;BAG51446;BAG54054;EAW73765;EAW73766;EAW73767;EAW73768;EAW73769;NP_659445;Q96NS1 Hs.135978 1646462 RH15915 FLJ30213;MGC102723;MGC138324 OTTHUMP00000235292;OTTHUMP00000235293;OTTHUMP00000235346;OTTHUMP00000235347;protein yippee-like 4 protein-coding ENSG00000166793 18328 08081 609725 VALIDATED 1352303 YTHDF2P1 YTH domain family, member 2 pseudogene 1 14 14 14 q21.1 19548903 19550998 + 38753919 38756228 + 39684268 39686363 + 10508479 400209 ABBA01061551;AL132639;AMYH01005683;NG_004109 1739407;1797124;2173394;2173396 A001V19;D14S811E;G19682;HGRG8 HGRG8;NY-REN-2;YTHDF2P APPROVED pseudo 19865 INFERRED 1348696 YTHDC2 YTH domain containing 2 5 5 5 q22.2 108797205 108878222 + 112877309 112958880 + 112849391 112930984 + 737633;6480464 12477932 17081983;15302935;14702039;8125298;21145461;21326311;19615732;16341674;21559518;21903422;21139048;21890473;21906983;22586326 64848 D6R9T8;D6RA70;D6RF50;Q9H6S0 ABBA01069044;ABBA01069045;AC010389;AC093208;AK000915;AK025593;AK095368;AK096486;AK131450;AK225316;AK310855;AL049305;AMYH01015550;AW052121;BC019100;BC137285;BE295472;BM827416;CA943109;CB268902;CH471086;CR627037;NM_022828 AAI37286;BAB15183;BAD18595;EAW48978;EAW48979;EAW48980;NP_073739;Q9H6S0 Hs.231942 1341870;1671275;1724589;1852127;5019213;5094953 CDR1;D5S421;RH121291;RH66654;STS-H71891;YTHDC2 CAHL CsA-associated helicase-like protein;OTTHUMP00000159057;OTTHUMP00000222864;probable ATP-dependent RNA helicase YTHDC2 protein-coding ENSG00000047188 24721 11690 VALIDATED 7246116 YTHDF3-AS1 YTHDF3 antisense RNA 1 (head to head) 101410533 AC011978;BM681776;BM967225;BQ631682;NG_033226;NR_102684 Hs.163027 miscrna 48728 VALIDATED 1349494 YWHAA tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide 7527 12848 1606217 YRDC yrdC domain containing (E. coli) 1 1 1 p34.3 36546438 36551689 - 38041201 38046452 - 38268614 38273865 - 6480464 19279227;16024787;12730717;12477932;2675563;17643375;22939629;16196087;21906983 79693 Q86U90 ABBA01023263;AF250397;AK027129;AK129676;AL524812;AL929472;AMYH01000505;AY172561;AY286019;AY286020;BC008984;BC067857;BC068057;BC080186;CH471059;NM_024640 AAH08984;AAH67857;AAH68057;AAH80186;AAO41711;AAP37053;AAP37054;AAQ14263;BAB15668;EAX07317;EAX07318;NP_078916;Q86U90 Hs.301564 1672595;2142801;2142803;5037552 A005X20;D8S2279;G20571;G30948 DRIP3;FLJ23476;FLJ26165;IRIP;RP11-109P14.4;SUA5 OTTHUMP00000004511;dopamine receptor interacting protein 3;dopamine receptor-interacting protein 3;hIRIP;ischemia/reperfusion inducible protein;ischemia/reperfusion-inducible protein homolog;yrdC domain-containing protein, mitochondrial protein-coding ENSG00000196449 28905 18313 612276 VALIDATED 1354151 YWHAD tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide 7530 12850 1320113 YPEL5 yippee-like 5 (Drosophila) 2 2 2 p23.1 30212614 30226263 + 30223332 30236903 + 30369750 30383399 + 6480464 15815621;15556292;15489334;12477932;11240639;10810093;20508983;20580816;21139048;21890473;21906983;19322201;23000965;23382248 51646 P62699 AB098739;ABBA01074834;ABBA01074835;AC016907;AF135161;AF151885;AF172940;AK025730;AK307099;AMYH01010214;BC000836;BC047237;CH471053;DB484378;NM_001127399;NM_001127400;NM_001127401;NM_016061 AAD34122;AAD47882;AAF43785;AAH00836;AAH47237;AAY14780;BAD51380;EAX00499;EAX00500;EAX00501;EAX00502;EAX00503;EAX00504;EAX00505;NP_001120871;NP_001120872;NP_001120873;NP_057145;P62699 Hs.515890 1648442;1670911;1768457;1777971;2110047 RH11964;RH45720;RH68446;SHGC-53251;YPEL5_9745 CGI-127 OTTHUMP00000123520;OTTHUMP00000123521;OTTHUMP00000123522;OTTHUMP00000201251;protein yippee-like 5;yippee protein protein-coding ENSG00000119801 18329 18312 609726 VALIDATED 1313142 YTHDF3 YTH domain family, member 3 This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] 8 8 8 q12.3 60071751 60115983 + 64243675 64287900 + 64081121 64125346 + 737633;6480464 12477932 14702039;11256614;16381901;15489336;15489334;15342556;11230166;11076863;20811636;21139048;16009940;12368078;15146197;18669648;20068231;20463905;21269460;22194214;22190034 253943 B4DPX9;Q658Z6;Q7Z739;Q8N3V9;Q8NA80;Q96MZ5;R4GMS0;R4GMX0;R4GN20;R4GN55 ABBA01041834;AC011978;AK002173;AK056219;AK093081;AK127574;AK298544;AL050081;AL831816;AL832005;AL832335;AL832369;AMYH01018763;AW673093;BC037492;BC052970;BP223018;BP354748;BX537996;CH471068;CN335163;DC419051;NG_033226;NM_001277813;NM_001277814;NM_001277815;NM_001277816;NM_001277817;NM_001277818;NM_152758;NR_102434 AAH52970;BAB71122;BAC04046;BAG54526;BAG60741;CAD38530;CAH56223;CAH56224;CAH56480;CAL38359;CAL38736;EAW86864;EAW86865;EAW86866;EAW86867;NP_001264742;NP_001264743;NP_001264744;NP_001264745;NP_001264746;NP_001264747;NP_689971;Q7Z739 Hs.491861 1657672;1666145;1682169;1689967;1735756;1776738;1848878;1848880;2147964 A001Y04;D8S1366E;G19771;RH68329;RH80212;RH93113;SHGC-31794;STS-H02876;WI-19603 FLJ31657 YTH domain family protein 3 protein-coding ENSG00000185728 26465 08106 REVIEWED 1322711 YTHDF2 YTH domain family, member 2 This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012] 1 1 1 p35 27459395 27492550 + 28935723 28968874 + 29063133 29096287 + 1580863;6480464 19322201;10508479;16858696;16799135;16344560;12477932;12368078;15342556;17643375;21832049;23275444;20811636;21182205;22863883;21139048;21890473;21906983;21145461;18729074;22505724 51441 Q9Y5A9 AA603037;AB451335;AB451484;ABBA01035060;ABBA01035061;AF155095;AF192968;AF432214;AK074276;AK292581;AK303833;AL356786;AL645729;AMYH01000438;BC002559;BF792382;BP320783;CH471059;CQ834214;CQ834216;DA697091;DC425394;NG_016746;NM_001172828;NM_001173128;NM_016258 AAD42861;AAF08813;AAH02559;AAL99921;ABM83083;ABM86278;BAF85270;BAG64779;BAG70149;BAG70298;CAH05322;CAH05323;EAX07673;EAX07674;EAX07675;NP_001166299;NP_001166599;NP_057342;Q9Y5A9 Hs.532286 1739407;1797124;2173394;2173396 A001V19;D14S811E;G19682;HGRG8 HGRG8;NY-REN-2 9430020E02Rik;CLL-associated antigen KW-14;OTTHUMP00000003782;YTH domain family protein 2;high-glucose-regulated protein 8;renal carcinoma antigen NY-REN-2;yth domain family 2 APPROVED protein-coding ENSG00000198492 31675 06587 610640 REVIEWED 1318986 YTHDF1 YTH domain family, member 1 20 20 20 q13.33 58504268 58525021 - 61297226 61317983 - 61826781 61847538 - 6480464 11780052;15489334;14702039;12477932;21145461;19615732;22939629;20811636;18654987;21903422;21139048;21906983;19322201 54915 F8W840;Q5JXC6;Q9BYJ9 AB055518;ABBA01021391;ABBA01021392;AK000398;AK024546;AK095795;AL096828;AL834366;AMYH01012074;BC003681;BC016920;BC025264;BC050284;CH471077;CQ834648;NM_017798 AAH03681;AAH16920;AAH25264;AAH50284;BAA91138;BAB62751;BAG53130;CAD39029;CAH05539;EAW75305;EAW75306;NP_060268;Q9BYJ9 Hs.11747 1687510;1688072 RH80054;RH93642 C20orf21;FLJ20391 DACA-1;OTTHUMP00000031533;OTTHUMP00000031534;YTH domain family 1;YTH domain family protein 1;dermatomyositis associated with cancer putative autoantigen 1 protein-coding ENSG00000149658 15867 11691 VALIDATED 1353658 YWHAQP1 YWHAQ pseudogene 1 14 14 14 q21.1 23136728 23137632 - 42345971 42347075 - 43276320 43277224 - 319121 ABBA01018020;AL356800;AMYH01005695;NG_002502 YWHAQP APPROVED pseudo 19937 INFERRED 1348668 YWHAQP2 YWHAQ pseudogene 2 22 22 22 q13.2 27952051 27953085 + 42371954 42373188 + 44040722 44041756 + 11080204 246716 ABBA01014578;AMYH01012830;NG_001580;NG_030019;Z82201 pseudo 23211 INFERRED 3378365 YWHAQP3 YWHAQ pseudogene 3 12 12 12 q13.3 56919376 56919982 + 55551211 55552438 + 57265582 57266188 + 100128944 ABBA01008444;AC121758;AMYH01004510;NG_028176 pseudo 37682 INFERRED 2902539 YWHAQP4 YWHAQ pseudogene 4 4 4 4 q32.3 162186284 162186995 + 165057007 165074046 + 164853684 164854395 + 19906423;9847074 646954 ABBA01070277;AC112247;AMYH01014665;NG_028173 2132872;2146357 1026;D4S2332 pseudo 37683 INFERRED 732940 YTHDC1 YTH domain containing 1 4 4 4 q13.2 66635442 66675796 - 68858700 68898419 - 69176105 69215824 - 6480464 17081983;16964243;16565220;16344560;15815621;15489334;15302935;15175272;14702039;12755701;12477932;12368078;11853319;10973987;10564280;11118435;9473574;15345239;19282290;20686370;23084401;16196087;21139048;16009940;21628590;21988832;23251661 91746 J3KRG5;J3KRW0;J3KS01;J3QR07;Q96MU7 AB075846;ABBA01022909;ABBA01022910;AC074378;AK056430;AK090836;AK098515;AL157447;AL832559;AMYH01014255;BC041119;BC053863;CH471057;DA191646;NM_001031732;NM_133370 AAH41119;AAH53863;AAY41024;BAB71181;BAB85552;EAX05570;EAX05571;NP_001026902;NP_588611;Q96MU7 Hs.175955 1675485;1682722;1689480;2160203;2164473;5022666 RH91333;RH91859;RH93535;SHGC-24716;SHGC-67387;YTHDC1 KIAA1966;YT521;YT521-B OTTHUMP00000159642;OTTHUMP00000159643;YTH domain-containing protein 1;putative splicing factor YT521 protein-coding ENSG00000083896 30626 11689 VALIDATED 4109591 YWHAQP6 YWHAQ pseudogene 6 3 3 q23 139742896 139743307 + 141319106 141319517 + 101290504 AC092977;NG_033174 pseudo ENSG00000249986 37685 INFERRED 5131593 YWHAQP7 YWHAQ pseudogene 7 12 77013160 77013825 + 100422674 ABBA01053543;AC107032;AMYH01004599;NG_028769 pseudo 37686 INFERRED 3051037 YWHAQP5 YWHAQ pseudogene 5 2 2 2 q11.2 93515782 93517160 + 98676998 98678388 + 99310578 99311956 + 100130391 ABBA01073965;ABBA01073966;AC064860;AMYH01010797;NG_028174 2116518;5092652 A005M31;G32240 pseudo 37684 INFERRED 6480159 YWHAQP9 YWHAQ pseudogene 9 1 q43 238271407 238271988 + 101290508 AL359203;NG_033177 pseudo ENSG00000230019 37688 INFERRED 3457459 YWHAQP8 YWHAQ pseudogene 8 X X X q22.1 100964214 100965227 - 100332005 100333218 - 100445448 100446461 - 21906983 392510 ABBA01044951;AMYH01022725;DQ145510;NG_005333;Z70280 Hs.558883 pseudo 37687 INFERRED 1346698 YWHAZP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1 14 14 14 q21.2 24620035 24621207 - 43829702 43830889 - 44759862 44761034 - 319120 ABBA01018035;AL355888;AMYH01005697;NG_002501 YWHAZP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene pseudo 19938 INFERRED 1342734 YWHAZP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2 2 2 q14.3 127029357 127032325 - 127312878 127315841 - 9847074 150554;399497 ABBA01040224;AC013474;AMYH01011016;NG_001553 pseudo 31078 INFERRED 1354163 YWHAZP3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3 10 10 10 p12.2 23113367 23116309 + 23465746 23468703 + 23425765 23428707 + 143371 ABBA01034470;AL139281;AMYH01002186;NG_001545 pseudo 31101 INFERRED 1604196 YWHAZP4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4 6 6 6 q23.1 128419080 128422263 + 127718494 127719727 + 127676817 127680000 + 246737 ABBA01025934;AL109939;AMYH01016655;NG_001587 pseudo 30851 INFERRED 1626537 YWHAZP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5 10 10 10 q25.1 101186332 101189840 + 107435901 107437620 + 107445976 107449482 + 86123 ABBA01063077;AL591363;AMYH01003041;NG_001531 pseudo 30564 INFERRED 4144257 YWHAZP6 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 6 9 9 9 p13.3 34852739 34854571 - 34911084 34913030 - 34921184 34923016 - 158383 ABBA01065003;AL355377;AMYH01019341;NG_001561 pseudo 30849 INFERRED 4144422 YWHAZP7 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 7 X X X q11.2 64179243 64179760 - 63749156 63750037 - 63832030 63833298 - 100130640 ABBA01066916;AL356265;AMYH01022495;NG_028959 2128179 WI-16836 pseudo 39028 INFERRED 4144301 YWHAZP8 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 8 X X X q13.2 72778127 72778858 + 72375779 72412080 + 72494621 72495352 + 646016 ABBA01059693;AC004074;AMYH01022610;NG_022672 1682948;1683417;1702436 D1S2271;DXS1677;RH28291 pseudo 39029 INFERRED 4144424 YWHAZP9 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 9 11 11 11 q12.1 57209086 57212426 + 59601184 59604611 + 59844701 59848044 + 441609 ABBA01021510;AMYH01003663;AP000790;NG_005491 pseudo 39030 INFERRED 737527 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] 20 20 q13.1 42947758 42970575 + 43514344 43537161 + 1331525;1580863;2306031;2298728;6480464;6484113;6907045 15118671;15902199;12786973 17255105;11984006;11520933;15231831;18029348;12963375;9069260;10195903;12657644;19360691;18094049;17717073;17531190;17229891;17098443;17081065;16679322;16581770;16368544;16282323;16166738;16045749;16024783;15883043;15726117;15629149;15489334;15389601;15324660;15324659;15229649;15159416;15057270;15022330;14743216;14680818;14676191;12937170;12919677;12911633;12871587;12669242;12665801;12618428;12582162;12507503;12482592;12477932;12468542;12453887;12446771;12438239;12437930;12424248;12364343;12360521;12176984;11996670;11985497;11912194;11886850;11784866;11780052;11555644;11549316;11531413;11313964;11279064;10931830;10869435;10862767;10840038;10785390;10775038;10713667;10620507;10559254;10441394;14679215;10407019;9921901;9705322;9581554;9524113;9428519;9422753;9369453;9367879;9341175;9144171;8702721;8617504;8515476;8037685;7890696;7644510;15103018;16968670;15265780;15142377;15708996;12620389;10848612;17353931;9543386;15163635;15454081;10644344;16227609;20562859;20936779;18029035;18239087;21145461;15284440;16636147;10712923;12433946;14651979;14675149;14701738;15032605;15696159;16511560;16775625;16868027;17292828;17974916;18460465;18762889;19172738;19173300;19558434;19615732;19821490;20070120;20381070;9069267;20388496;21147917;17369396;21209461;21533173;16196087;20000738;21416292;10958686;12619878;10681541;22863883;22990118;20598904;21832049;22939629;17620012;20478393;21262972;21553213;14505491;15791647;16041367;16093354;16888623;19725029;22785534;23455922;23752268;21598387;17314511;19135240;20338996;20618440;19270694;21081666;21396404;21708191;21139048;21890473;21906983;21948273;17620599;22278744;16099816;19471022;22125622;10409742;16246723;18781797;20639865;21135113;21900206;21903422;21925390;21935479;21972092;22178446;22222486;16205633;11697890;19322201;11157475;18356162;18779327;20642453;11700305;17030608;17979178;18160415;19738201;19805454;21282530;21565611;21706016;21963094;21987572;22304920;22623428;23000965;23053962;23383273;23444366;19380743;19940129;20012529;20194617;22053931;22190034;22505724;22948661;22952844 7529 P31946;Q4VY19;Q4VY20 AA845374;AB209759;AB451260;AB451386;ABBA01052654;ABBA01052655;AF064847;AF107406;AK292717;AL008725;AL834170;AMYH01011935;BC001359;BC010352;BF316820;CH471077;DB443535;NM_003404;NM_139323;X57346 AAD44524;AAH01359;ACE86904;ACE87591;BAD92996;BAF85406;BAG70074;BAG70200;CAA40621;EAW75893;EAW75894;EAW75895;EAW75896;NP_003395;NP_647539;P31946 Hs.643544 1657177;1683809;1735002;1797050;1848354;2153160;2165363;5016455;5016727;5091784 AL022350;D20S528E;D20S556E;D20S586E;RH66089;SHGC-37252;STS-N23075;STS-X57346;YWHAB__1218;Z94504 GW128;HS1;KCIP-1;YWHAA 14-3-3 alpha;14-3-3 protein beta/alpha;OTTHUMP00000031075;OTTHUMP00000031076;brain protein 14-3-3, beta isoform;protein 1054;protein kinase C inhibitor protein 1;protein kinase C inhibitor protein-1;tyrosine 3-monooxgenase/tryptophan 5 monooxgenase activation protein, beta polypeptide;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide APPROVED protein-coding ENSG00000166913 12849 03184 601289 REVIEWED 1350802 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008] 17 17 p13.3 1194590 1250267 - 1247834 1303556 - 6480464;6484113;6907045 21401702;10788521;7644510;19173300;18658164;18573912;17728103;17430600;17278997;17081065;16923798;16679322;16581770;16407301;16189514;16045749;16043481;15883043;15838597;15722337;15635413;15494311;15489334;15369779;15364926;15229649;15023544;14970201;14966136;14702039;14559997;14517258;12919677;12917326;12796778;12757707;12665801;12657644;12621583;12507503;12477932;12438239;12176984;12154078;12042314;11985497;11953308;11912194;11864996;11784866;11782387;11533041;11531413;11486037;11278287;11172812;11118213;11114197;10887173;10869435;10713667;10644344;10559254;10441394;10407019;10088721;9524113;9452471;9427749;9371399;9369453;9312143;9144171;9111084;8858348;8702721;8684458;7615088;11208609;16968670;15265780;15142377;15708996;16968750;21145461;21189257;21319273;10358015;10330186;11504882;14679215;10449590;11076968;12221128;12433946;1266503;12787561;12852856;15057270;15459208;15696159;16376338;16462731;16482218;16511560;16511572;16775625;16868027;17643375;17720156;18029348;19172738;19558434;19584063;19615732;19635726;19996099;20224040;20417184;20508983;7790358;20462248;16341674;20388496;20565895;16227609;20562859;20936779;22580067;16159877;15166223;20603015;18160415;23383273;23035971;23140658;22939629;22984113;16196087;20000738;21184166;17369396;21533173;17620012;20478393;21346153;10681541;22863883;22984265;21492476;16306228;17314511;20618440;21139048;21693764;21890473;21906983;21963094;22223660;17620599;22456610;14676191;16246723;17043677;18781797;19766566;20458337;20639865;21081666;21242966;21900206;21935479;21987572;22118674;22178446;22222486;22607805;22151054;21628590;11697890;21044950;22246185;18356162;18779327;20642453;17979178;19738201;19805454;21282530;21706016;21988832;22623428;22899242;23000965;23151878;23246001;23275563;23438482;23444366;16888623;23271436;22887762;16027165;20012529;22053931;22190034;22505724;22944692;22948661;22982899;23266643 7531 B4DJF2;I3L0W5;I3L3T1;K7EIT4;K7EM20;Q7M4R4 AB017103;ABBA01054655;ABBA01054656;ABBA01054657;ABBA01054658;ABBA01054659;ABBA01054660;AC032044;AK128785;AK295260;AK295997;AK296050;AK296555;AK316185;AK316201;AMYH01007994;AMYH01007995;AMYH01007996;AMYH01007997;AY883089;BC000179;BC001440;BM755263;BT007161;CH471108;DC365395;NG_009233;NM_006761;NR_024058;U20972;U28936;U43399;U43430;U54778 AAA75301;AAC50175;AAC50625;AAC50710;AAD00026;AAH00179;AAH01440;AAP35825;AAX68683;ABW03326;BAA32538;BAG54733;BAG58249;BAG58772;BAG58814;BAG59178;BAH14556;BAH14572;EAW90627;EAW90628;EAW90629;NP_006752;P62258 Hs.513851 1647168;1675957;1679373;1736670;1737545;1854192;2186969;5016707 D17S1499E;D17S1582;G19934;RH104444;RH47135;RH66862;RH70591;STS-T60849 14-3-3E;FLJ45465;FLJ53559;KCIP-1;MDCR;MDS 14-3-3 epsilon;14-3-3 protein epsilon;OTTHUMP00000166035;mitochondrial import stimulation factor L subunit;protein kinase C inhibitor protein-1;tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide APPROVED protein-coding ENSG00000108953 12851 05457 605066 REVIEWED 7241119 YY1P1 YY1 transcription factor pseudogene 1 10 72245473 72246090 - 100419963 ABBA01019628;AC022532;AMYH01002812;NG_025445 pseudo 45094 INFERRED 7240970 YY1P2 YY1 transcription factor pseudogene 2 647012 ABBA01028117;AC023468;AMYH01011132;BC042175;BI915156;NR_033658 Hs.639411 pseudo 45095 VALIDATED 736065 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008] 7 7 q11.23 75794052 75826252 - 75956108 75988342 - 6480464;6484113;6907045 12482592;10433554;11824616;10486217;19173300;19034380;18843201;18426801;22366688;18054924;17611984;17394238;17284169;17109079;16581770;16516142;16223726;16189514;16045749;15883043;15598710;15489334;15324660;15159416;15057270;14743216;14702039;12853948;12819209;12665801;12507503;12506198;12477932;12438239;12364343;12154078;11996670;11886850;11531413;11237865;10880354;10785390;10559254;9524113;8930394;8702721;8037685;7939645;7829101;15708996;15265780;15142377;17353931;10620507;11504882;15778465;12176984;21145461;21319273;19772960;20639859;20146355;18951085;20870266;21109226;11076968;12221128;12433946;12852856;15116094;15696159;16462731;16511560;16511572;17720156;19172738;19558434;19801645;20381070;20508983;7790358;20388496;20936779;21148311;20478393;21654844;18160415;23115241;23383273;21420405;17500595;22863883;16196087;21416292;20618440;17620599;16246723;18274552;18781797;21081666;21867493;21903422;21987572;22178446;22222486;21139048;21890473;21906983;19322201;21044950;21118956;21628590;22556425;15324659;18779327;20642453;21152872;14505491;16041367;16888623;17979178;19738201;20639865;21706016;21963094;21988832;22304920;22623428;22658894;23000965;23151878;23189152;23438482;23444366;16027165;19380743;20012529;22053931;22190034;22505724;22856523;22952844 7532 B4DHC4;P61981 AB024334;ABBA01005914;ABBA01005915;AC005522;AC006388;AF142498;AK024230;AK293505;AK295029;AMYH01017564;AMYH01017565;BC020963;BI495132;CH471220;CR541904;CR541925;DC343104;NM_012479 AAD48408;AAH20963;BAA85184;BAG51276;BAG56989;BAG58085;CAG46702;CAG46723;EAW71804;NP_036611;P61981 Hs.744840 1667139;1735642;1854053;2111376;2118834;2156298;2165079;2174590 1138;A002D37;D7S1878E;D7S2057E;D7S551E;G19981;GDB:1317208;RH12457 14-3-3GAMMA 14-3-3 gamma;14-3-3 protein gamma;KCIP-1;OTTHUMP00000161136;protein kinase C inhibitor protein 1 APPROVED protein-coding ENSG00000170027 12852 05639 605356 REVIEWED 737555 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009] 22 22 q12.3 30670479 30683590 + 32340479 32353590 + 1331525;1580863;6480464;6484113;6907045 15118671 17255105;9079630;15790729;19160447;19034380;18950845;17611984;16581770;16545136;16459651;16045749;15580267;15489334;15461802;15324660;15023544;14743216;14690447;14676191;12919677;12871946;12730237;12665801;12595070;12507503;12480176;12477932;12438239;12177059;12176995;12176984;12042314;11996670;11969417;11953308;11886850;11864996;11533041;11531413;11352901;11266503;11121172;10713667;10591208;10441394;10330186;10206237;9799109;9738002;9705322;9524113;9428519;9369453;9299557;9278512;9110174;8812417;8702721;8668348;8619474;8617504;8561965;8515476;8218406;7690594;7615088;7499362;2902623;1578511;16968670;21145461;21319273;22706160;15708996;15142377;15265780;10620507;15696159;12433946;15116094;16096643;16511560;16775625;16868027;16902409;17979178;19172738;19558434;19615732;20224040;9197417;20562859;20936779;20388496;21416292;23383273;20478393;21432775;22863883;20618440;17620599;16728661;18274552;18781797;21081666;21903422;22222486;21139048;21890473;21906983;21739144;11697890;16716084;18397886;19322201;18779327;20642453;14505491;16041367;16888623;19738201;20639865;21706016;21963094;21987572;21988832;22562251;23000965;23444366;20012529;21318276;22053931;22505724 7533 A2IDB1;A2IDB2;F8WEB6;Q04917;Q9H4N8 ABBA01055356;ABBA01055357;AK312650;AMYH01012724;AY007132;BC003047;CH471095;CR456612;D78577;L08439;L20422;NM_003405;S80794;X57345;X78138;X80536;Z82248 AAA35483;AAB36036;AAG01995;AAH03047;BAA11418;BAG35533;CAA40620;CAA55017;CAA56676;CAG30498;CAK54639;CAK54938;EAW60001;EAW60002;EAW60003;NP_003396;Q04917 Hs.226755 1744377;1797052;1800244;1804876;1805044;1806510;1806806;1807210;1807346;1807882;1808866;1814548;1823110;1829682;1830182;1830980;1834336;1838356;1840782;1858526;2009922;2009924;2009926;2009928;2009930;2009932;2009934;2009936;2009938;2009940;2009942;2009944;2009946;2009948;2009950;2009952;2009954;2009956;2009958;2009960;2009962;2009964;2009966;2009968;2009970;2009972;2009974;2009976;2009978;2009980;2009982;2009984;2009986;2009988;2009990;2009992;2009994;2009996;2009998;2010000;2010002;2010004;2010006;2010008;2010010;2010012;2010014;2010016;2010018;2010020;2010022;2010024;2010026;2010028;2010030;2010032;2010034;2010036;2010038;2010040;2010042;2010044;2010046;2010048;2010050;2010052;2098080;2098082;2098084;2098086;2098088;2098090;2098092;2098094;2098096;2098098;2098100;2121958;2138413;2152092 ECD00980;ECD03373;ECD03463;ECD04212;ECD04365;ECD04571;ECD04644;ECD04916;ECD05416;ECD08304;ECD12643;ECD15973;ECD16224;ECD16626;ECD18316;ECD20352;ECD21582;GDB:452620;REN75882;REN75883;REN75884;REN75885;REN75886;REN75887;REN75888;REN75889;REN75890;REN75891;REN75892;REN75893;REN75894;REN75895;REN75896;REN75897;REN75898;REN75899;REN75900;REN75901;REN75902;REN75903;REN75904;REN75905;REN75906;REN75907;REN75908;REN75909;REN75910;REN75911;REN75912;REN75913;REN75914;REN75915;REN75916;REN75917;REN75918;REN75919;REN75920;REN75921;REN75922;REN75923;REN75924;REN75925;REN75926;REN75927;REN75928;REN75929;REN75930;REN75931;REN75932;REN75933;REN75934;REN75935;REN75936;REN75937;REN75938;REN75939;REN75940;REN75941;REN75942;REN75943;REN75944;REN75945;REN75946;REN75947;RH18134;SHGC-37700;SHGC-4185;WI-15366;YWHAH_1118;stSG602414;stSG602416;stSG602417;stSG602418;stSG602419;stSG602420;stSG602421;stSG602422;stSG602423;stSG602424;stSG602425 YWHA1 14-3-3 eta;14-3-3 protein eta;OTTHUMP00000028905 APPROVED protein-coding ENSG00000128245 12853 00215 113508 REVIEWED 734393 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008] 2 2 p25.1 9641557 9688557 - 9724106 9771106 - 1580863;6480464;6484113;6907045 20679480;18779327;18550856;18626620;18249187;18215133;18089831;17973628;17913709;17617058;17389761;17369524;17190946;16713569;16679322;16581770;16516142;16381901;16368544;16367866;16215457;16176975;16045749;15930726;15902271;15883043;15489336;15489334;15324660;15231748;15196694;15159416;15023544;14743216;12919677;12853467;12665801;12535517;12501243;12477932;12438239;11984006;15163635;18029348;18952052;18950845;18794547;12426317;12177059;12176984;12042314;11864996;11433030;11080204;11076863;11024037;10862767;10835362;10785390;10713667;10664457;10611249;10441394;10092600;10066823;9369453;9360956;9110174;9058808;8929531;8668348;8663231;8619474;8515476;7603573;7479742;2015305;15708996;15265780;17353931;10757792;10620507;9524113;12911633;10831594;11266503;12816952;14970201;14597563;15454081;15367659;15694340;20454448;20478393;21395556;20110348;10954706;12433946;12513910;14675149;16511560;16775625;16868027;16888623;16943424;16956611;17215244;17620599;19010391;19139046;19172738;19173300;19416966;19429675;19558434;19592491;19801645;19933840;19935702;19996285;20069457;20086099;20308060;9197417;9543386;20388496;20451386;20936779;21046037;17369396;21209461;11470791;15494392;15964851;16980613;18292392;17620012;21118956;18059471;22405925;22863883;15280438;23012332;16196087;20716686;21655264;17314511;20618440;21728994;22010828;21139048;21890473;21906983;19471022;15161933;17043677;18781797;21081666;21726808;21827211;21903422;21946067;21987572;22178446;22222486;11697890;15094368;21624135;21628590;21876254;21900244;22575644;21332526;22027839;22174390;22115752;19786833;22466704;22580824;22649097;12941695;16123141;18332145;18439900;19553522;21145461;21319273;22677168;22797923;22978167;8816492;9092538;15014438;15618521;15629715;17110929;17979178;19738201;21706016;21963094;21988832;22863277;23000965;23386617;23438482;23444366;22967481;23333852;23383273;9689060;17389591;18356162;20642453;21152872;22462548;14505491;16041367;17331040;17457084;18445273;18569453;19011111;19380743;19458171;20012529;21555462;22053931;22505724;22612223;22952844;22952583;23159940 10971 E9PG15;P27348 AA729400;ABBA01015592;AC073195;AC082651;AF070556;AK297624;AK302208;AK309462;AK316158;AMYH01010094;AMYH01010095;BC001197;BC050601;BC056867;BC093019;BT020014;CH471053;CS185527;HY044745;NM_006826;X56468;X57347 AAC28640;AAH50601;AAH56867;AAH93019;AAV38817;AAX93143;AAY24326;BAG60000;BAG63566;BAH14529;CAA39840;CAA40622;CAJ42708;CAL38208;CAL38216;CAL38236;CAL38550;EAX00977;EAX00978;EAX00979;NP_006817;P27348 Hs.74405 1797054;5016745;5113601;5114051;5126351 D10S2166;D22S1126;RH15607;RH70237;YWHAQ_1656 14-3-3;1C5;HS1 14-3-3 protein T-cell;14-3-3 protein tau;14-3-3 protein theta;OTTHUMP00000015730;OTTHUMP00000165887;protein tau APPROVED protein-coding ENSG00000134308 12854 00886 609009 REVIEWED 1354472 YY2 YY2 transcription factor The protein encoded by this gene is a transcription factor that includes several Kruppel-like zinc fingers in its C-terminal region. It possesses both activation and repression domains, and it can therefore have both positive and negative effects on the transcription of target genes. This gene has an intronless coding region, and it appears to have arisen by retrotransposition of the related YY1 transcription factor gene, which is located on chromosome 14. [provided by RefSeq, May 2010] X X X p22.2-p22.1 25995801 25998522 + 21784524 21785642 + 21874105 21876845 + 737633;6480464 12477932 19026728;16344560;16260628;15087442;14702039;16377127;17478514;19710015;20215434;18029348;19471022;21530438;22248057;22318606 404281 O15391 ABBA01072007;AK091850;AMYH01022139;AY567472;BC137215;BC137217;CH471074;DA961884;DB029513;DB459498;NG_012797;NG_021268;NM_206923;U73479 AAD08633;AAI37216;AAI37218;AAS68634;BAG52427;EAW98983;NP_996806;O15391 Hs.673601 ZNF631 OTTHUMP00000023045;transcription factor YY2;transcription factor yin yang 2;yin and yang 2;zinc finger protein 631 APPROVED protein-coding ENSG00000230797 31684 15684 300570 REVIEWED 1312837 ZAN zonadhesin This gene encodes a sperm membrane protein that binds the zona pellucida of the egg in a species-specific manner. The encoded protein may be involved in signaling or gamete recognition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 q22 95061816 95125973 + 100169185 100233355 + 100331249 100395419 + 1580863;6480464 9126492;17033959;14759258;11239002;9799793;19724880;19862010;19913121;20628086 7455 F5GX59;F5GZI5;F5H0T8;F5H4B5;Q9BZ88 ABBA01013181;ABBA01013182;ABBA01013183;ABBA01013184;ABBA01013185;ABBA01013186;ABBA01013187;ABBA01013188;ABBA01231129;AC009488;AC011895;AF312032;AF332975;AF332976;AF332977;AF332978;AF332979;AF332980;AK302596;AMYH01017741;AMYH01017742;AMYH01017743;AMYH01017744;AY046055;CH471091;NG_029544;NM_003386;NM_173059;U83191 AAC51208;AAK01431;AAK01432;AAK01433;AAK01434;AAK01435;AAK01436;AAK21011;AAL04410;AAL04411;AAL04412;AAL04413;AAL04414;AAL04415;BAG63848;EAW76487;EAW76488;EAW76489;EAW76490;EAW76491;EAW76492;NP_003377;NP_775082;Q9Y493 Hs.307004 1770161 GDB:1317242 OTTHUMP00000211358;OTTHUMP00000211359;OTTHUMP00000211360;OTTHUMP00000211361;OTTHUMP00000211362;OTTHUMP00000211363;zonadhesin APPROVED protein-coding ENSG00000146839 12857 03846 602372 REVIEWED 1320648 ZADH2 zinc binding alcohol dehydrogenase domain containing 2 18 18 18 q22.3 69727946 69739950 - 71039464 71050105 - 72909278 72921281 - 737633;1580863;6480464 12477932 17207965;15489334;19690890;20877624;22087225;21832049;19953087;21139048;19322201 284273 B4DZ91;J3KTQ8;J3QQQ7;Q4G1C4;Q8N4Q0 ABBA01015267;ABBA01015268;AC025105;AK292880;AMYH01009099;AMYH01009100;BC010734;BC018081;BC033780;BC064618;BC075853;BC078661;BX647730;CH471117;HH961818;NM_175907 AAH18081;AAH33780;AAH78661;ADQ31749;BAF85569;CBX51382;EAW66569;NP_787103;Q8N4Q0 Hs.465433 1672941;1700538;1778520;2126924 RH103890;RH47795;RH78532;WI-22260 MGC45594 OTTHUMP00000163757;zinc-binding alcohol dehydrogenase domain-containing protein 2 protein-coding 28697 15685 VALIDATED 736756 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008] 8 8 q23.1 102000090 102034745 - 101930804 101965623 - 1625714;6480464;6484113;6907045 16981892 20471030;7890696;16114898;16130169;19401330;19371722;19218246;19198587;19184136;19173300;19138662;19062179;19034380;18951430;18618111;18573912;18559254;18472156;18319590;18290843;18162532;18078716;17918986;17764575;17719568;17704798;17317006;17081983;17081065;16679322;16581770;16516142;16413928;16368544;16341674;16306228;16246723;16223362;16169070;16123035;16045749;15721295;15660133;15616007;15489334;15389569;15364926;15363479;15347690;15324660;15234461;15229649;15225635;15159416;15146197;15073173;15054037;15037601;15036595;14970201;14743216;14690436;14676191;12963375;12919677;12861023;12853467;12819209;12764136;12757707;12665801;12615066;12589811;12477932;12468542;12438239;12364343;12361576;12323073;12215538;12176995;12176984;11985497;11956222;11950841;11917136;11912208;11912194;11563969;11486037;11427721;11410287;11359875;11336675;11331285;11287646;11257119;11237865;11178869;11124266;10887173;10864927;10840038;10785390;10713667;10642536;10627461;10611249;10559254;10488331;10477722;10455159;10441394;10411906;10407019;10224112;10102273;10026197;9705322;9620776;9581554;9524113;9512661;9454760;9452471;9428519;9425086;9398266;9367879;9360956;9312143;9299557;9197417;9153224;9144171;8668348;8631758;8617504;8278375;8101440;8037685;15028637;8034572;7939633;7939632;7628630;7603574;7547034;7536343;1577711;16968670;15265780;15142377;11531413;15708996;10620507;9261098;8702721;10835362;11984006;10358015;12893243;17353931;11504882;15163635;15778465;16968750;21145461;21319273;22912335;9092538;15629715;8024705;11533041;7559537;10644344;20936779;20478393;20885446;18039662;12433946;15023544;15032605;15161933;15324659;15696159;16376338;16420525;16511560;16868027;17043677;17292828;17643375;17720156;19172738;19525224;19647741;19662078;19732720;19860830;19875727;20224040;20308060;20379614;20381070;20384366;9115393;9858547;20388496;16226712;21334806;21081103;21028892;20603015;21118500;10681541;15003508;22863883;22990118;22922483;22989890;15492215;17630505;18160415;23106098;23383273;23175360;21209461;21533173;16196087;19135240;20000738;20618440;21302295;21800051;21621563;14505491;16041367;23271328;23622247;19471022;21554249;21076048;21081666;21707964;19531499;19766566;20843328;21900206;21903422;21978388;21139048;21890473;21906983;22010828;15057270;21965683;21987572;22178446;22222486;15664191;16888623;19725029;22904106;23269842;22279540;11697890;17361185;21628590;21242845;21743495;22069327;22450169;17620599;22124272;18356162;18779327;20642453;22072711;9632690;11700305;17979178;19738201;19805454;20639865;21282530;21706016;21963094;21988832;22623428;23000965;23438482;23444366;23422756;20129940;21832049;22808202;22939629;16027165;20012529;22053931;22190034;22505724;22794279;22797925;22948661;22952844 7534 B0AZS6;B7Z2E6;D0PNI1;E5RGE1;E5RIR4;E7ESK7;E7EVZ2;E7EX24;E7EX29;E9PD24;H0YB80;Q6IN74 AA830489;ABBA01037589;AC018781;AC027373;AK289945;AK294647;AK296902;AK307506;AK315867;AMYH01018930;AMYH01018931;BC003623;BC013265;BC051814;BC063824;BC068456;BC070389;BC072426;BC073141;BC083508;BC099904;BC101483;BC108281;BC111951;BM783874;BQ605329;CH471060;CN276619;CN276627;CR996247;DB472116;DC298291;DQ185048;EF094937;M86400;NM_001135699;NM_001135700;NM_001135701;NM_001135702;NM_003406;NM_145690;S79449;U28964 AAA36446;AAC52052;AAD14300;AAH03623;AAH51814;AAH63824;AAH68456;AAH72426;AAH73141;AAH83508;AAH99904;AAI01484;AAI08282;AAI11952;ABD14427;ABM82632;ABM85810;ABO15003;BAF82634;BAF98758;BAH11832;BAH12451;EAW91823;EAW91824;EAW91825;EAW91826;EAW91827;EAW91828;EAW91829;NP_001129171;NP_001129172;NP_001129173;NP_001129174;NP_003397;NP_663723;P63104 Hs.492407 1648435;1791818;5126843 PMC126239P3;PMC150726P7;SHGC-35187 14-3-3-zeta;KCIP-1;MGC111427;MGC126532;MGC138156;YWHAD 14-3-3 delta;14-3-3 protein zeta/delta;14-3-3 protein/cytosolic phospholipase A2;14-3-3 zeta;OTTHUMP00000165851;OTTHUMP00000165852;OTTHUMP00000165854;OTTHUMP00000165857;OTTHUMP00000165858;OTTHUMP00000165859;OTTHUMP00000165860;OTTHUMP00000227482;OTTHUMP00000227483;OTTHUMP00000227485;phospholipase A2;protein kinase C inhibitor protein 1;protein kinase C inhibitor protein-1;tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide;tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide APPROVED protein-coding ENSG00000164924 12855 03183 601288 REVIEWED 1604695 ZACN zinc activated ligand-gated ion channel LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008] 17 17 17 q25.3 70669095 70672716 + 71586904 71590342 + 74075263 74078885 + 6480464 12381728;16083862;16344560;12477932;15286800 353174 Q401N2 AB223030;ABBA01028759;AC018665;AF512521;AK122638;AMYH01008639;BC110596;BC110597;CH471099;DB119720;NG_030672;NM_180990 AAI10598;AAO20969;BAE19924;EAW89365;EAW89366;NP_851321;Q401N2 Hs.714919 2108071;2143434 EXOC7__7609;SHGC-36023 L2;LGICZ;LGICZ1;MGC129841;ZAC;ZAC1 OTTHUMP00000211661;ligand-gated ion channel subunit;ligand-gated ion channel zinc-activated 1;ligand-gated ion channel, zinc activated 1;ligand-gated ion-channel receptor L2;zinc activated ligand-gated ion channel 1;zinc-activated ligand-gated ion channel APPROVED protein-coding ENSG00000186919 29504 17271 610935 VALIDATED 736235 YY1 YY1 transcription factor YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008] 14 14 q 99774855 99814557 + 100705102 100744804 + 1580831;1580832;628455;1580863;6480464;6484113 12754214;15567155;11487577 9016636;1946405;15084399;12913000;12808092;12805085;12788099;12588874;12571248;12483538;12477932;12411495;12393438;11940654;11777930;11532945;11486036;11448987;11287625;11158321;10888618;10866666;10452940;10369680;10224053;9685495;9642075;9493912;9371597;1655281;18029348;19235591;19164126;19129193;19034670;18950698;18753137;18558095;18542060;18488713;18485096;18480431;18424742;18423564;18391986;18389627;18339860;17990281;17980704;17973241;17973082;17925399;17721549;17556661;17549406;17434929;17353273;17192956;16963455;16954376;16918502;16769183;16565220;16314465;16260628;16170350;16143308;15955096;15942652;15870067;15831475;15805285;15782117;15586248;15489334;15302935;15295102;15291746;15210108;15153544;21345358;22440256;22267549;21454521;22262839;22318606;9346952;9278494;8942976;8289393;8268924;8266081;7912122;7758944;7541038;12920132;8327494;8917507;7769693;14610174;20215434;18922472;19297611;19360355;19483472;19553391;19566924;19575798;19685047;19712462;19720140;19793915;19879840;20081364;20081375;20105288;20237276;20430007;20025767;20504995;20663886;20666933;16878156;16922677;18940814;19013255;20211142;21048031;20233728;20431063;9857059;16822951;18632988;18634613;19454010;20686494;21057508;20519390;17218270;19139378;19279113;20805357;19913121;20660740;21832049;22467534;22939629;17287852;21385102;14707079;17510411;17827154;21182263;21376359;12704081;15520282;15899857;18026119;21303910;21282644;21378158;20309604;21253604;21565439;20811636;21332389;16147992;20596523;21839814;11953439;23328582;23455922;21795679;21326896;22292071;19953087;21139048;21549307;21693764;21906983;22210892;22248053;22248054;22248055;22248056;22248057;22248058;22248059;16624538;21963094;21988832;23000965;23226345;9199306;21792014;22065573;15367688;21666725;21952639;21987572;21252943;21335086;22391813;22659184;22253417;22184066;19322201;22536409;15576338;23523134;22776217;18729074;20138641;22169291;22505724;22944692;16344560;23287719 7528 G3V3M8;H0YJU4;H0YJV7;P25490 ABBA01048531;ABBA01048532;ABBA01048533;AF047455;AF147416;AK025731;AK026497;AL157871;AMYH01006007;AMYH01006008;AMYH01006009;AMYH01006010;BC014138;BC020324;BC037308;BC065366;CH471061;DA234524;M76541;M77698;NM_003403;Z14077 AAA59467;AAA59926;AAH37308;AAH65366;ABM82564;ABW03401;CAA78455;EAW81689;EAW81690;NP_003394;P25490 Hs.388927;Hs.603118 1748531;1854152;2131611;2134813;2138858;2142922;2145166;2147578;2154081;2154186;2156571;2157893;2163418;2173134;2218650 A006N16;D14S1203;D14S1300;G06170;G35620;G36215;G36321;HUM000HE11;RH1618;RH44921;RH68412;SHGC-32732;SHGC-87;WI-19259;YY1__3892 DELTA;INO80S;NF-E1;UCRBP;YIN-YANG-1 INO80 complex subunit S;OTTHUMP00000197459;OTTHUMP00000246388;YY-1;Yin and Yang 1 protein;delta transcription factor;transcriptional repressor protein YY1 APPROVED protein-coding 12856 02482 600013 REVIEWED 1605369 YY1AP1 YY1 associated protein 1 The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 1 1 1 q22 128702315 128731875 - 153895857 153925415 - 155629233 155658823 - 6480464 17986458;22895435;16713569;18029348;17541814;16710414;16381901;16189514;15489336;15489334;15302935;14744866;14702039;12477932;12118372;11856496;11710830;11230166;11076863;8125298;20936779;23184937;21278236;19471022;21139048;21693764;21900206;22318606;23258147 55249 A3KFK1;A3KFK2;B0QZ55;B4DQQ0;B4DZQ4;F5H640;F8WD62;I6L9C2;Q68CT8;Q9BQ64 ABBA01016688;ABBA01016689;ABBA01016690;AF203474;AF206328;AF466401;AK001737;AK023976;AK125590;AK225883;AK297562;AK298904;AK303046;AK303386;AK303944;AK309701;AK315049;AL162734;AMYH01001432;AY604179;BC001655;BC001843;BC003500;BC008766;BC009358;BC014906;BC025272;BC044887;BG325066;BX088689;CH471121;CR749789;DC300265;DC346197;DC388975;DC399389;DC406177;NM_001198899;NM_001198900;NM_001198901;NM_001198902;NM_001198903;NM_001198904;NM_001198905;NM_001198906;NM_018253;NM_139118;NM_139119;NM_139121 AAH01655;AAH01843;AAH08766;AAH09358;AAH14906;AAH44887;AAL74055;AAL75971;AAO13249;AAT34990;BAA91871;BAB14748;BAG59954;BAG61012;BAG64166;BAG64442;BAG64872;CAH18650;CAL38222;CAL38727;EAW53052;EAW53053;EAW53054;EAW53055;EAW53056;EAW53057;EAW53058;EAW53059;EAW53060;NP_001185828;NP_001185829;NP_001185830;NP_001185831;NP_001185832;NP_001185833;NP_001185834;NP_001185835;NP_060723;NP_620829;NP_620830;NP_620832;Q9H869 Hs.584927 1701670;1775355;2113580;2143406;2150144;2181845;5022200;5037552 D1S1799E;D1S2539;D8S2279;L18426;RH104507;RH12294;RH15932;YAP_v447 FLJ10875;FLJ13914;HCCA1;HCCA2;YAP;YY1AP OTTHUMP00000033473;OTTHUMP00000033474;OTTHUMP00000033475;OTTHUMP00000033476;OTTHUMP00000033477;OTTHUMP00000033478;OTTHUMP00000033479;OTTHUMP00000200831;OTTHUMP00000200832;OTTHUMP00000200833;OTTHUMP00000200836;OTTHUMP00000200837;YY1-associated protein 1;hepatocellular carcinoma susceptibility protein;hepatocellular carcinoma-associated protein 2 APPROVED protein-coding ENSG00000163374 30935 08485 607860 REVIEWED 6484013 ZBED1P1 zinc finger, BED-type containing 1 pseudogene 1 4 q25 111198425 111214816 + 645145 ABBA01063797;AC005187;AC108145;AMYH01014461;NG_008326 2138195 SHGC-23236 ZBED1P pseudo 44004 INFERRED 1351487 ZAR1 zygote arrest 1 This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013] 4 4 4 p11 48941100 48945109 + 48187066 48191181 + 48492309 48496424 + 1580863;6480464 21206179;16551357;12773403;12539046;20654783;12477932 326340 Q86SH2 ABBA01014350;AC096952;AI217763;AMYH01014161;AY191416;AY193890;BC136265;CH471069;NM_175619 AAI36266;AAO24707;AAO24709;EAW93062;NP_783318;Q86SH2 Hs.276457 OTTHUMP00000128286;oocyte-specific maternal effect factor;zygote arrest protein 1 APPROVED protein-coding ENSG00000182223 20436 09599 607520 REVIEWED 2311474 ZAR1L zygote arrest 1-like This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010] 13 13 13 q13.1 13944739 13952921 - 31775837 31784062 - 32877908 32886091 - 18442940;15057823;12477932;19913121;20628086;20202217 646799 A6NP61 ABBA01010133;ABBA01010134;AL445212;AMYH01005021;BC146956;BC146965;HC044869;NG_017006;NM_001136571 A6NP61;AAI46957;AAI46966;CAX14964;CBH30764;NP_001130043 Hs.569254 RP11-37E23.4;ZAR2 OTTHUMP00000204129;ZAR1-like protein APPROVED protein-coding ENSG00000189167 37116 REVIEWED 1349191 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 2 2 q12 97696463 97722755 + 98330031 98356323 + 1580863;1599880;6480464;6484113;6907045;7240710 8124727 17192257;17051526;17038529;16932341;16823829;16642047;16538501;16467082;16418492;16412387;16406604;16339550;16300468;16291755;16263570;16219325;16096284;16094384;16079107;16079094;15996927;15972449;15923611;15861514;15856008;15800671;15759031;15699074;15592455;15514014;15489334;15370248;15358536;15292186;15190462;15144186;15143214;15133473;15100278;15059847;14985102;14766232;14672952;14560012;14557276;12847255;12817019;12778467;12648457;12595313;12522270;12504004;12477932;12450381;12447358;12393534;12387734;12165490;12154360;12084069;12051764;11976341;11964272;11855827;11781312;11572860;11412303;11390470;11368773;11279207;11133830;10979964;10966114;10867021;10790433;10660534;10458769;10449770;10419455;10318843;10221598;10209036;10074432;10037717;9698567;9685404;9490415;9464824;9403695;9378960;9362531;9169414;9047237;8943371;8761298;8756661;8702662;8638162;8530437;8366117;8202713;8202712;8082894;7961936;7819147;7798261;7760813;7737297;15588985;1423621;7528772;11891219;12359715;12646565;7630421;8176201;11048639;17652306;18029348;19298946;19230824;19136305;19050243;19021053;19018007;18854088;18818202;18770856;18770822;18757853;18689273;18687687;18577710;18519230;18424730;18333847;18322442;18311544;18203013;18190465;18048647;18025306;18022252;17948236;17931624;17926183;17785822;17767948;17702857;17577788;17534928;17512407;17492476;17375875;17222799;17215865;7629168;9269777;7522245;18453590;7539035;12186560;8798643;7761456;10078535;9846481;15735648;20228263;20864151;15688026;16461343;18616755;19267204;19297020;19377082;19679010;19727816;19826250;19907441;19944462;20001236;20029467;20056178;20164537;8613493;20534575;20132303;20488542;20575031;20014315;22664044;18683785;19920178;19454010;21205967;19575876;20657554;21079155;15084271;11353765;21200022;21453975;22965421;21832049;22151263;20637659;23267066;21344162;20145264;21725281;21716207;21856938;22971532;23124046;21887278;22171799;21463115;21055809;20301777;16273093;16467851;21988832;22984268;23293025;21945028;22002134;16888650;22338471;21607290;22207134;10779765;14523017;15536084;16503409;22362302;22564988;9407100;12190313;22888118;9988730;9036949;22839722;23530057;23245794;23514740;16906159;18005690;19710135;20702582;20842205;20890395;22266821;22505724;22802418;22844345;23097993 7535 P43403 AB083211;ABBA01073975;AC016699;AC017099;AK303341;AK310628;AK310637;AL832287;AMYH01010795;BC039039;BC053878;CH471127;L05148;NG_007727;NM_001079;NM_207519 AAH39039;AAH53878;AAX93187;BAC43747;BAG64404;EAX01918;EAX01919;NP_001070;NP_997402;P43403 Hs.234569 FLJ17670;FLJ17679;SRK;STCD;STD;TZK;ZAP-70 70 kDa zeta-associated protein;70 kDa zeta-chain associated protein;OTTHUMP00000203013;OTTHUMP00000216626;syk-related tyrosine kinase;tyrosine-protein kinase ZAP-70;zeta-chain associated protein kinase, 70kD APPROVED protein-coding ENSG00000115085 12858 01495 176947;269840 REVIEWED 1601997 ZAK sterile alpha motif and leucine zipper containing kinase AZK This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 2 2 q24.2 173648811 173840983 + 173940565 174132737 + 2293875;6480464;6907045;7240533 17306896;20626350 11836244;10924358;15342622;18331592;17192257;16964243;16344560;16189514;15815621;15737997;15684425;15489334;15485649;15465036;15324660;15172994;14702039;12761180;12535642;12477932;12220515;11549352;11042189;15778465;20331627;18029348;20379614;20408143;21305317;21900206;19953087;21139048;21890473;19322201;21988832;23000965;23319595 51776 D4Q8H0;Q9HDD2 AA258354;AB030034;AB041883;AB049733;AB049734;AB208974;ABBA01020746;ABBA01020747;AC013461;AC019046;AC092573;AF238255;AF251441;AF325454;AF465843;AF480461;AF480462;AI799498;AK056310;AK095825;AK096877;AK291825;AK298634;AL833180;AMYH01011271;AMYH01011272;BC001401;BF055268;CB955745;CH471058;CQ834626;DA993056;NG_029373;NM_016653;NM_133646 AAF63490;AAF65822;AAH01401;AAK11615;AAL85891;AAL85892;AAO33376;AAX82002;AAX93067;BAB12040;BAB16444;BAB16445;BAD92211;BAF84514;BAG51674;BAG60809;BAJ05400;CAH05528;EAX11164;EAX11165;EAX11166;NP_057737;NP_598407;Q9NYL2 Hs.444451 1675015;1684058;1697958;1708400;1709028;1725305;2137141;2148274;5014051;5016478;5016781;5020274;5022578;5024516;5037552;5093168 A009I04;D13S1568;D1S1423;D8S2278;D8S2279;G32560;GDB:434012;L18441;RH102508;RH11697;RH118970;RH69341;RH80553;SHGC-67307;SHGC-79584;SHGC-82889 AZK;MLK7;MLT;MLTK;MRK;mlklak;pk HCCS-4;MLK-like mitogen-activated protein triple kinase;MLK-related kinase;OTTHUMP00000163140;OTTHUMP00000163141;OTTHUMP00000205097;cervical cancer suppressor gene 4 protein;human cervical cancer suppressor gene 4 protein;leucine zipper- and sterile alpha motif-containing kinase;mitogen-activated protein kinase kinase kinase MLT;mixed lineage kinase 7;mixed lineage kinase with a leucine zipper and a sterile alpha motif;mixed lineage kinase-related kinase MRK-beta;protein kinase;sterile alpha motif- and leucine zipper-containing kinase AZK APPROVED protein-coding ENSG00000091436 11791 609479 REVIEWED 1602864 ZBBX zinc finger, B-box domain containing 3 3 3 q26.1 165356741 165496610 - 168440769 168580765 - 166958075 167098085 - 6480464 8889548;14702039;12477932;16344560 79740 A8MT70;B7ZMD2;C9J608;C9JVV2;F2Z370;H7C4M7;H7C534;H7C590 ABBA01058730;ABBA01058731;AC107311;AC117463;AK026702;AK093296;AMYH01013636;BC034229;BC144444;CB321707;CH471052;DA590037;DB078376;NM_001199201;NM_001199202;NM_024687 A8MT70;AAI44445;BAB15532;BAG52683;EAW78589;NP_001186130;NP_001186131;NP_078963 Hs.478143 1336284;1756509;1768422;1784626;5024725 D3S2356;D3S3712;RH92014;SHGC-112354;SHGC-143529 FLJ23049 OTTHUMP00000164910;OTTHUMP00000164931;OTTHUMP00000164932;hypothetical protein flj23049;zinc finger B-box domain-containing protein 1 protein-coding ENSG00000169064 26245 08015 VALIDATED 7245734 ZBED5-AS1 ZBED5 antisense RNA 1 22238593 729013 ABBA01061153;AC069360;AMYH01003391;BC014360;BC036635;BG618678;NR_034137 Hs.726427 1666411;1677516;2169124 RH99141;STS-R86769;WI-14576 miscrna ENSG00000247271 48646 VALIDATED 3322020 ZBED6 zinc finger, BED-type containing 6 1 1 q32.1 176897113 176900052 + 203766651 203769590 + 6480464 16710414;20016685;20134481;20375320 100381270 P86452 ABBA01027469;AC114402;AMYH01001658;NM_001174108 NP_001167579;P86452 Hs.716666 1670697;1687109;1697896;1856908;2125797 AL009827;AL010093;RH102476;RH99217;SHGC-57057 MGR OTTHUMP00000243760;zinc finger BED domain-containing protein 6;zinc finger, BED domain containing 6 protein-coding 33273 613512 PROVISIONAL 1348309 ZBED2 zinc finger, BED-type containing 2 3 3 3 q13.2 109711433 109713852 - 112794437 112796856 - 111311747 111314182 - 1580863;6480464 16341674;15489334;12477932;21906983;21988832;23533661 79413 Q9BTP6 ABBA01061670;AC055748;AMYH01013389;BC003536;BC071956;BE740032;BM847001;CH471052;CV575511;D78844;NG_012156;NM_024508 AAH03536;AAH71956;EAW79699;EAW79700;NP_078784;Q9BTP6 Hs.136912 MGC10796 OTTHUMP00000082693;zinc finger BED domain-containing protein 2 protein-coding ENSG00000177494 20710 15686 615246 VALIDATED 1314283 ZBED4 zinc finger, BED-type containing 4 22 22 22 q13.33 34169009 34205150 + 48633501 48669730 + 50247497 50283726 + 1580863;6480464 17209048;15461802;12477932;10591208;9734811;19369242;19693800;20238005;23022380;18029348 9889 O75132 AA809789;AB014537;ABBA01031321;ABBA01031322;ABBA01031323;ABBA01031324;AL117328;AMYH01012885;AMYH01012886;AMYH01012887;BC117670;BC117671;BC167155;CH471138;CR456387;DB457646;NM_014838 AAI17671;AAI67155;BAA31612;CAG30273;CAK54377;CAK54676;EAW73479;NP_055653;O75132 Hs.475208 1688965;1712332;1849270 A004G14;G54075;RH80531 OTTHUMP00000196971;zinc finger BED domain-containing protein 4 protein-coding 20721 11692 612552 VALIDATED 6770267 ZBED3-AS1 ZBED3 antisense RNA 1 5 q13.3 76382623 76444176 + 12477932;14702039;16344560;20581827 728723 ABBA01061978;ABBA01061979;AC008581;AK055144;AK311179;AMYH01015425;AMYH01015426;BC026963;BF111934;CX786597;DA293448;NR_024398 Hs.161338 1680232;1785262;2130570 L28304;RH93132;SHGC-106188 APPROVED miscrna 44188 VALIDATED 1348579 ZBED1 zinc finger, BED-type containing 1 This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene. [provided by RefSeq, Jan 2010] X X;Y X;Y p22.33;Yp11 6684174 6699189 - 2414455 2429008 - 2404455 2419008 - 6480464 9887332;17220279;17209048;16713569;16189514;15489334;12663651;12477932;9872452;8889548;19394292;16344560;19447967;22939629;21900206;19471022;21139048;21693764;21890473;22021382 9189 C9JXP4;O96006 AB018328;ABBA01038598;AC079176;AMYH01022012;BC015030;BM980254;CH471074;DA625185;NG_016364;NM_001171135;NM_001171136;NM_004729;Y16947;Y17156 AAH15030;ABM84566;ABM86530;BAA34505;CAA76545;CAA76660;EAW98691;EAW98692;NP_001164606;NP_001164607;NP_004720;O96006 Hs.131452 1679842;1702108;1702890;2188081;2188085;5017881;5020274;7187872 DXYS102;G66046;G66048;L18441;RH38668;UniSTS:99122;ZBED1 ALTE;DREF;KIAA0785;TRAMP;hDREF Ac-like transposable element;BED-type zinc finger domain-containing protein 1;DNA replication-related element binding factor;OTTHUMP00000022839;OTTHUMP00000070388;OTTHUMP00000214863;dREF homolog;putative Ac-like transposable element;putative Ac-like transposon;zinc finger BED domain-containing protein 1;zinc finger, bed domain containing 1 APPROVED protein-coding ENSG00000214717 447 02170 300178 REVIEWED 1320128 ZBED3 zinc finger, BED-type containing 3 5 5 5 q13.3 72266829 72277326 - 76408288 76418786 - 76372532 76383030 - 1580863;6480464 19141611;15489334;12477932;8125298;20581827;20889853;19322201;23533661 84327 D6RIC4;Q96IU2 ABBA01061977;ABBA01061978;AC008581;AK223624;AMYH01015425;BC007239;CH471084;NM_032367 AAH07239;BAD97344;EAW95790;EAW95791;NP_115743;Q96IU2 Hs.584988 MGC15435 2610005H11Rik;OTTHUMP00000128326;OTTHUMP00000222091;axin-interacting protein;zinc finger BED domain-containing protein 3;zinc finger, BED domain containing 3 protein-coding 20711 15687 615250 PROVISIONAL 1603615 ZBED5 zinc finger, BED-type containing 5 This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009] 11 11 11 p15.3 10995917 11001286 - 10830827 10836188 - 10874251 10879620 - 6480464 16344560;15231748;14702039;12477932;10607616;20379614;20877624;23533661 58486 E9PJ57;E9PJT5;E9PM71;E9PNT1;Q49AG3 ABBA01061153;AC069360;AF205600;AF205601;AK022942;AK025407;AK025829;AK123233;AK315033;AL137577;AMYH01003391;BC017803;BC038508;BC047754;BQ028130;CH471064;DA059122;DA785416;DB100756;NM_001143667;NM_021211 AAF18454;AAF18455;AAH17803;AAH47754;BAG37518;BAG51140;CAB70820;EAW68550;NP_001137139;NP_067034;Q49AG3 Hs.655066 1852142;2167824;2169124 D11S2306E;RH18452;WI-14576 Buster1;FLJ41239 OTTHUMP00000197107;OTTHUMP00000231034;OTTHUMP00000231035;OTTHUMP00000231038;transposon-derived Buster1 transposase-like protein;zinc finger BED domain-containing protein 5 APPROVED protein-coding ENSG00000236287 30803 17429 615251 REVIEWED 4109588 ZBTB12P1 zinc finger and BTB domain containing 12 pseudogene 1 4 p14 39771701 39774287 - 9847074 100499252 AC105287;NG_023432;XM_003846321 XP_003846369 ZBTB12B;ZNF920 zinc finger and BTB domain containing 12B;zinc finger and BTB domain containing 12B, pseudogene APPROVED pseudo 37702 INFERRED 1348951 ZBTB10 zinc finger and BTB domain containing 10 8 8 8 q13-q21.1 77403411 77439573 + 81561003 81597165 + 81398448 81434610 + 737633;6480464 12477932 20382698;15489334;14702039;21145461;22829776;18029348;22939629;22990118;19471022;21693764;21890473;22197932;22493691 65986 Q96DT7;Q9H9H3 ABBA01004061;AC009812;AI627858;AJ319673;AJ507398;AK022814;AK056913;AMYH01018827;BC050061;BC127097;BC127098;BC148254;CA865977;CH471068;NM_001105539;NM_001277145;NM_023929 AAH50061;AAI27099;AAI48255;BAB14256;BAB71309;CAC40989;CAD45447;EAW87075;EAW87076;EAW87077;EAW87078;EAW87079;NP_001099009;NP_001264074;NP_076418;Q96DT7 Hs.591868;Hs.709604 1651990;1697444;1714921;2162689;2187375;2218652 RH102223;RH11916;RH120455;RH68928;RH78774;ZBTB10__4922 FLJ12752;RINZF OTTHUMP00000207119;OTTHUMP00000226939;OTTHUMP00000226940;OTTHUMP00000226941;zinc finger and BTB domain-containing protein 10;zinc finger protein RIN ZF;zinc finger protein RINZF protein-coding ENSG00000205189 30953 15689 VALIDATED 1321295 ZBED6CL ZBED6 C-terminal like 7 7 7 q36.1 144584028 144586900 + 149657871 149660743 + 150026938 150029810 + 6480464 15489334;12853948;12690205;12477932;17207965;21988832;23533661 113763 Q96FA7 AACC02000108;ABBA01035192;AC005586;AL832660;AMYH01018138;BC011406;CH471173;NM_138434 AAH11406;AAP21891;ADQ31596;EAL24471;EAW54126;NP_612443;Q96FA7 Hs.655915 C7orf29 OTTHUMP00000212805;ZBED6 C-terminal-like protein;hypothetical protein LOC113763;uncharacterized protein C7orf29 APPROVED protein-coding ENSG00000188707 21720 12917 615252 VALIDATED 1342499 ZBTB12 zinc finger and BTB domain containing 12 6 6 6 p21.33 33465978 33468353 - 31975373 31977748 - 31867394 31869769 - 1300397;1580863;6480464 9545376 15489334;14656967;14574404;12477932;8939933;22566634;21764829;23263863 221527 Q9Y330 ABBA01038093;ABBA01038094;AF134726;AL662834;AL671762;AL844853;AMYH01016221;AMYH01016222;BA000025;BC043609;CH471081;CR388219;CR759784;NM_181842 AAD21810;AAH43609;BAB63293;EAX03545;EAX03546;EAX03547;NP_862825;Q9Y330 Hs.234027 Bat9;C6orf46;D6S59E;G10;NG35 HLA-B-associated transcript 9;OTTHUMP00000029235;zinc finger and BTB domain-containing protein 12 protein-coding ENSG00000204366 19066 15691 VALIDATED 1343689 ZBTB1 zinc finger and BTB domain containing 1 14 14 14 q23.3 45029022 45058137 + 64041174 64070161 + 64971292 65000408 + 1580863;6480464 15489334;15334068;15146197;12477932;10231032;8889548;20797634;19762545;20211142;21693764;21706167;15175327 22890 G3V2I8;G3V3N0;G3V447;Q9Y2K1 AB023214;ABBA01018363;AK291743;AL049869;AMYH01005799;AW965994;AY598321;BC050719;BM975910;BX248777;BX537646;CH471061;CN362091;NM_001123329;NM_014950 AAH50719;AAT06732;ABZ92308;BAA76841;BAF84432;CAD66584;EAW80863;NP_001116801;NP_055765;Q9Y2K1 Hs.605143 1646635;1653678;1660598;1668876;1676954;2186830;5021939 A007C14;AF005211;D14S1194;D14S1339;RH94359;STS-AA019734;Zbtb1 KIAA0997;ZNF909 OTTHUMP00000245237;zinc finger and BTB domain-containing protein 1 protein-coding ENSG00000126804 20259 15688 VALIDATED 1351033 ZBP1 Z-DNA binding protein 1 This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] 20 20 q13.31 55612308 55628935 - 56178902 56195632 - 632620;1580863;6480464 11842111 19095800;18941233;18771559;16448869;16344560;15489334;14702039;12477932;11780052;11524677;10364558;17618271;21296080;20599623;19461076;19668339;19846511;20237496;19158679;21471454;22240322;19590578;21903422;22114317;23283962;23149075;23553627 81030 H0Y6D1;Q9H171 ABBA01052931;AI659939;AI925506;AJ300575;AK122761;AK128405;AK290918;AK314062;AL035541;AMYH01012013;AX775973;AX775975;BC028218;BC131706;BF511589;CH471077;CT002036;DA674238;DA676308;DB331848;NG_031836;NM_001160417;NM_001160418;NM_001160419;NM_030776 AAH28218;AAI31707;BAF83607;BAG53713;CAC18810;CAE11686;CAE11687;EAW75509;EAW75510;EAW75511;EAW75512;EAW75513;NP_001153889;NP_001153890;NP_001153891;NP_110403;Q9H171 Hs.302123 5014051;5015881 D8S2278;GDB:335751 C20orf183;DAI;DLM-1;DLM1 DNA-dependent activator of IFN-regulatory factors;DNA-dependent activator of IRFs;DNA-dependent activator of interferon regulatory factors;OTTHUMP00000031373;OTTHUMP00000174290;OTTHUMP00000237854;Z-DNA-binding protein 1;tumor stroma and activated macrophage protein DLM-1 APPROVED protein-coding ENSG00000124256 16176 09484 606750 REVIEWED 1317955 ZBTB11 zinc finger and BTB domain containing 11 3 3 3 q12.3 99761387 99789095 - 102850978 102878607 - 101368283 101395988 - 1580863;6480464 16344560;15231748;14702039;12477932;18029348;18781797;21987572;21139048;21906983;22321011;22586326;22505724 27107 C9J2L2;O95625;Q59H97 AB208862;ABBA01061772;AC084198;AI636025;AK023488;AK312859;AMYH01013360;BC028062;BC029342;BC111700;CH471052;DA907277;NM_014415;U69274 AAD00172;AAI11701;BAD92099;BAG35711;BAG51200;EAW79786;NP_055230;O95625 Hs.655286;Hs.743292 1666804;2158938 SGC38178;SHGC-77155 FLJ13426;MGC133303;ZNF-U69274;ZNF913 OTTHUMP00000214139;zinc finger and BTB domain-containing protein 11 protein-coding ENSG00000066422 16740 15690 VALIDATED 5144405 ZBTB20-AS1 ZBTB20 antisense RNA 1 3 3 3 q13.31 112478038 112515175 + 115553040 115580715 + 114070658 114107825 + 14702039;16344560 100131117 ABBA01061638;AC083886;AC131152;AK098660;AMYH01013399;BI831211;DB037313;DB047976;NR_038993 Hs.122417;Hs.740770 APPROVED miscrna ENSG00000241560 40640 VALIDATED 5144697 ZBTB20-AS2 ZBTB20 antisense RNA 2 3 3 112810764 112813806 + 114403427 114406469 + 100506673 XR_108468;XR_112531 APPROVED miscrna 42421 6481224 ZBTB20-AS4 ZBTB20 antisense RNA 4 100874131 AC069063 APPROVED miscrna 42423 1345499 ZBTB14 zinc finger and BTB domain containing 14 18 18 pter-p11.21 5279379 5283313 - 5289018 5297052 - 727770;1580863;6480464 9244432 8367294;9177479;17714511;16805315;16344560;15639979;15629158;15489334;14706637;12477932;10080939;10049742;12183049;19299493;20141036;21880590;19322201;21890473;19121354;23000965 7541 B2R850;J3KRQ2;J3QL74;J3QLI2;O43829 ABBA01049876;ABBA01049877;AK313236;AMYH01008784;AMYH01008785;AP001496;AW338628;BC057282;BC110519;BI561601;CH471113;CQ834630;CQ859724;D89859;DA817685;DB442630;NM_001143823;NM_001243702;NM_001243704;NM_003409;Y12726 AAI10520;ABZ92244;BAA20131;BAG36047;CAA73258;CAH05530;CAH25912;EAX01647;NP_001137295;NP_001230631;NP_001230633;NP_003400;O43829 Hs.592340 1674193;1775268;2131753;2218664 SHGC-56450;WI-11323;WI-11324;ZFP161__4941 MGC126126;ZF5;ZFP-161;ZFP-5;ZFP161;ZNF478 OTTHUMP00000162301;ZFP161 zinc finger protein;hZF5;zfp-161;zfp-5;zinc finger and BTB domain-containing protein 14;zinc finger protein 161 homolog;zinc finger protein 478;zinc finger protein 5 homolog;zinc finger protein homologous to Zfp161 in mouse APPROVED protein-coding ENSG00000198081 12860 03674 602126 VALIDATED 1347626 ZBTB17 zinc finger and BTB domain containing 17 This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008] 1 1 p36.13 16140951 16175101 - 16268364 16302627 - 1580863;6480464;6907045 9308237;12244100;19164764;17947461;17880999;17418410;16710414;16537485;16352593;16344560;16167342;15752756;15616584;15489334;14739298;12840021;12545156;12477932;12408820;11545736;11283613;11068878;9312026;9256341;8125298;7557990;1946370;1505991;15231747;17050536;12193603;15856024;17082179;21459883;11117529;12904288;15095404;17006541;19815509;19901969;20697356;18923429;19160485;19549844;20308430;20493880;21908575;22099967;22184250;21906983 7709 E7EPQ4;H0Y6X2;H7C1K8;Q13105 ABBA01004687;AK223618;AK226168;AK294796;AK299820;AK301896;AK302610;AK303823;AK309081;AK311083;AK315201;AL034555;AL355994;AMYH01000275;AMYH01000276;BC126163;BC143965;BC143968;BQ575263;BU634371;CH471167;DB064089;M88369;NM_001242884;NM_003443;U20647;Y09723 AAA61327;AAC50256;AAI26164;AAI43966;BAD97338;BAG37639;BAG57917;BAG61689;BAG63326;BAG63857;BAG64771;CAA70889;EAW51757;EAW51758;NP_001229813;NP_003434;Q13105 Hs.433764 1660859;1732940;2108651;2171623;2171625;2172255;2186068;5020913 A005O01;D1S1336;RH64190;RH70580;SHGC-31102;SHGC-74246;STS-AA013259;ZBTB17_8746 MIZ-1;ZNF151;ZNF60;pHZ-67 Myc-interacting Zn finger protein-1;OTTHUMP00000010985;myc-interacting zinc finger protein 1;zinc finger and BTB domain-containing protein 17;zinc finger protein 151 (pHZ-67);zinc finger protein 60 APPROVED protein-coding ENSG00000116809 12936 04968 604084 VALIDATED 1351632 ZBTB20 zinc finger and BTB domain containing 20 3 3 3 q13.2 112464305 113273740 - 115540207 116348817 - 114056941 114866127 - 1580863;6480464 18029348;19240061;16381901;16344560;15489336;12477932;11352661;11230166;11076863;10965110;10737800;8125298;19913121;20628086;19850283;20379614;19955470;20211142;21702992;22037551;21532573;19322201 26137 A8K251;B2RCW4;C9JCX0;C9JUH0;Q9HC78 ABBA01061631;ABBA01061632;ABBA01061633;ABBA01061634;ABBA01061635;ABBA01061636;ABBA01061637;ABBA01061638;AC055739;AC069063;AC069506;AC078986;AC083886;AC092915;AC131152;AC138977;AF139460;AK129968;AK225788;AK290116;AK315307;AL050276;AMYH01013399;AMYH01013400;AMYH01013401;AMYH01013402;BC010934;BC015587;BC029041;BC090936;BF327758;BG993862;BX647778;BX648237;CH471052;DB131355;DB268190;NM_001164342;NM_001164343;NM_001164344;NM_001164345;NM_001164346;NM_001164347;NM_015642 AAG28340;AAH29041;ABZ92319;BAF82805;BAG37711;CAB43377;CAH56190;CAL37476;EAW79598;NP_001157814;NP_001157815;NP_001157816;NP_001157817;NP_001157818;NP_001157819;NP_056457;Q9HC78 Hs.655108 1336391;1336883;1337086;1340326;1648314;1654968;1659561;1664763;1665929;1666551;1669322;1673821;1674912;1676698;1716195;1724095;1724633;1735080;1750877;1752179;1757737;1758773;1759709;1784760;2110051;2122179;2122848;2127357;2139088;2151930;2158738;2162390;2164698;2178442;2180910;5093900;7183998 044XB2;A009Y32;D3S1310;D3S1518;D3S2767E;D3S3421;D3S3526;D3S3665;D3S3984;G09418;G32990;L77282;RH118789;RH121121;RH121317;RH45320;RH66252;RH68645;RH70464;RH94381;SGC34980;SHGC-104625;SHGC-106103;SHGC-14186;SHGC-146401;SHGC-150762;SHGC-151001;SHGC-154562;SHGC-33762;SHGC-33976;SHGC-77220;STS-R45221;STS-R97981;WI-11302;WI-4825;ZBTB20_9462 DKFZp566F123;DPZF;FLJ26458;HOF;ODA-8S;ZNF288 BTB/POZ zinc finger protein DPZF;OTTHUMP00000215066;OTTHUMP00000215067;OTTHUMP00000215068;OTTHUMP00000215069;OTTHUMP00000215070;OTTHUMP00000215071;dendritic cell-derived BTB/POZ zinc finger;dendritic-derived BTB/POZ zinc finger protein;zinc finger and BTB domain-containing protein 20;zinc finger protein 288 protein-coding ENSG00000181722 13503 05822 606025 VALIDATED 1352454 ZBTB16 zinc finger and BTB domain containing 16 This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] 11 11 q23.1 113435641 113626608 + 113930431 114121398 + 1599922;1580863;2312786;6480464;6907045;7240710 8387545;19191224 9531570;8384553;12590135;12477932;12460926;12408802;12242665;12145280;12004059;11964310;11929873;11920278;11719366;11175338;11161217;11106752;11090081;10791968;10688654;10572087;10537309;10500192;10497277;10433962;9770450;9627120;9294197;8622986;12802276;8541544;18029348;19451220;19444914;19421145;18846501;18771349;18703361;18611983;18568019;18448589;18417445;18348865;18262754;18000064;17881917;17537403;17515885;17340613;17118363;17082479;16828757;16676348;16637071;16189514;16169070;15968309;15964811;15949438;15623533;15489334;15467736;15231748;15219838;15196694;15077196;15065091;14982881;14702039;14657020;14645547;14597771;14527952;14521715;12970399;12821938;9256429;8889548;9765306;9486654;16024608;19648967;19723763;19796243;19855079;20010871;20038602;20098615;20379614;20945532;19913121;20628086;11865059;19762545;20211142;21547890;21632718;22555178;21900206;21915328;22292015;17498654;21988832;23280881;23088713;23223428 7704 F5H5Y7;F5H6C3;H0YGW2;Q05516 AB208916;ABBA01039773;ABBA01039774;AF060568;AF076613;AF076615;AF076616;AK126422;AMYH01004040;AMYH01004041;AMYH01004042;AP000908;AP002518;AP002755;BC026902;BC029812;BM969145;BX648973;CH471065;NG_012140;NM_001018011;NM_006006;S60093;Z19002 AAC32847;AAC32848;AAC32849;AAC60590;AAD03619;AAH26902;AAH29812;ABZ92254;BAD92153;CAA79489;EAW67241;EAW67242;NP_001018011;NP_005997;Q05516 Hs.591945;Hs.682144 1337886;1646917;1654082;1659325;1702102;1702266;1706436;1733726;1737689;1737859;1767790;2108649;2133784;2152610;2186413;5015881;5494120 A008C32;D11S1104;D11S1191;D11S1792;D11S2076;D11S3293;D11S3462;D11S4022;GDB:335751;RH16530;SHGC-33207;SHGC-80797;UniSTS:99119;UniSTS:99223;ZBTB16_8745;ZNF145;fj34c06.x1 PLZF;ZNF145 OTTHUMP00000238379;OTTHUMP00000238382;zinc finger and BTB domain-containing protein 16;zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia);zinc finger protein PLZF APPROVED protein-coding ENSG00000109906 12930 11762 176797;612447 REVIEWED 1346592 ZBTB18 zinc finger and BTB domain containing 18 This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] 1 1 1 q44-qter 217504910 217511127 + 242281184 242287401 + 244214561 244220778 + 1580863;6480464 16710414;9013868;9756912;9770450;22095278;15489334;12477932;11350943;10721697;9568537;7633419;7566098;20103640;20936779;19322201;21139048;15146197;20059953;21988832 10472 Q99592 ABBA01047204;AJ001388;AJ223321;AK291408;AK293892;AL050055;AL590483;AMYH01001893;BC036677;BC078175;CH471148;CN409673;DC377579;NM_001278196;NM_006352;NM_205768;U38896;W68199;X95072 AAA81368;AAH36677;BAF84097;BAG57281;CAA04718;CAA11262;CAA64468;EAW77097;EAW77098;EAW77099;NP_001265125;NP_006343;NP_991331;Q99592 Hs.69997 1667325;1735964;1774372;2127212;5019339 D1S1950E;MARC_9941-9942:996688685:2;RH104472;RH16021;SHGC-76612 C2H2-171;RP58;TAZ-1;ZNF238 58 kDa repressor protein;OTTHUMP00000037918;transcriptional repressor RP58;translin-associated zinc finger protein 1;zinc finger and BTB domain-containing protein 18;zinc finger protein 238;zinc finger protein C2H2-171 APPROVED protein-coding ENSG00000179456 13030 12231 608433 REVIEWED 1315344 ZBTB2 zinc finger and BTB domain containing 2 6 6 6 q25.1 152419132 152446560 - 151726943 151754370 - 151685250 151712677 - 1580863;6480464 16051665;15489334;14702039;14574404;12477932;10819331;19380588;19615732;19394292;20211142;21540461;23022380;19471022;21139048;21693764;19322201 57621 Q658W5;Q8N680 AB040916;ABBA01025640;ABBA01025641;AJ420526;AK092886;AK291942;AL590413;AL832957;AMYH01016745;BC020172;CH471051;NM_020861 AAH20172;ABZ92365;BAA96007;BAF84631;CAH56321;EAW47751;EAW47752;NP_065912;Q8N680 Hs.520073 1767895;1785910 RH36531;SHGC-142005 ZNF437 OTTHUMP00000017428;zinc finger and BTB domain-containing protein 2 protein-coding ENSG00000181472 20868 10314 PROVISIONAL 1321974 ZBTB21 zinc finger and BTB domain containing 21 21 21 21 q22.3 28554479 28578036 - 42280009 42303565 - 43406940 43430496 - 1580863;6480464 17081983;15629158;15489334;15342556;15302935;12477932;12107410;10830953;10574462;15324660;20379614;19156129;19471022;21693764 49854 E7EVF9;Q5KS07;Q9ULJ3 AB033053;AB041014;AB041015;AB190372;AB190373;AB190374;ABBA01014179;AI291220;AK300291;AK308179;AL562200;AMYH01012266;AP001619;AP001620;AP001745;BC063290;BI767542;BM893936;BP230048;CA397608;CH471079;CR933655;NM_001098402;NM_001098403;NM_020727 AAH63290;BAA86541;BAA95529;BAD74063;BAD74064;BAD86526;BAD86527;BAD86528;BAG62048;CAI45954;EAX09579;EAX09580;EAX09581;NP_001091872;NP_001091873;NP_065778;Q9ULJ3 Hs.434947;Hs.618406 1653154;1688336;1730871;1775786;1791169;2110085;2120723;2153139 D21S1955;D21S399;G31145;RH93963;SGC44320;SHGC-51809;UniSTS:259175;ZNF295_9637 DKFZp781N1974;ZNF295 OTTHUMP00000109314;OTTHUMP00000109315;OTTHUMP00000109316;OTTHUMP00000109317;OTTHUMP00000109318;OTTHUMP00000109319;OTTHUMP00000109320;zinc finger and BTB domain-containing protein 21;zinc finger protein 295 APPROVED protein-coding ENSG00000173276 13083 10328 VALIDATED 1352119 ZBTB22 zinc finger and BTB domain containing 22 6 6 6 p21.3 34836547 34840085 - 33390173 33393472 - 33282182 33285719 - 1580863;6480464 16189514;15489334;14702039;14574404;12477932;9521053;16169070;9545376;16344560;20211142;19851445;21988832 9278 A2AB93;O15209 ABBA01038141;AK095978;AK315747;AL662820;AL662827;AMYH01016243;AMYH01016244;BC018541;BQ002626;BX248088;BX459194;CD369813;CH471081;CR759786;CR759817;DA625357;DA777388;NG_009876;NM_001145338;NM_005453;Z97183;Z97184 AAH18541;ADZ15588;BAG38101;BAG53184;CAB09990;EAX03721;NP_001138810;NP_005444;O15209 Hs.206770 2108673;2180771 RH37250;ZNF297_8921 BING1;ZBTB22A;ZNF297;ZNF297A;fru;fruitless OTTHUMP00000029145;OTTHUMP00000178695;zinc finger and BTB domain-containing protein 22;zinc finger and BTB domain-containing protein 22A;zinc finger protein 297 protein-coding ENSG00000236104 13085 15761 611439 VALIDATED 1315856 ZBTB24 zinc finger and BTB domain containing 24 This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011] 6 6 6 q21 110530317 110551038 - 109890412 109911133 - 109783719 109804440 - 1580863;6480464 19060904;18391951;16189514;15489334;14574404;12477932;12168954;9455477;17353931;21596365;15840729;20881960;23455924;21906047 9841 O43167 AB007901;ABBA01026125;ABBA01026126;AK309697;AL109947;AMYH01016584;BC036731;BC117374;BC117376;BC143843;BX648883;CH471051;NG_029388;NM_001164313;NM_014797 AAH36731;AAI17375;AAI17377;ADR83233;BAA23713;EAW48338;NP_001157785;NP_055612;O43167 Hs.409876 1657980;2134401;2176659 RH46701;STS-N24789;WI-15119 BIF1;ICF2;PATZ2;ZNF450 Bax-interacting factor-1;OTTHUMP00000016968;POZ (BTB) and AT hook containing zinc finger 2;zinc finger and BTB domain-containing protein 24;zinc finger protein 450 APPROVED protein-coding ENSG00000112365 21143 18315 614064;614069 REVIEWED 1318405 ZBTB26 zinc finger and BTB domain containing 26 9 9 9 q33.2 96328698 96342098 - 124720199 124733600 - 125680378 125693779 - 1580863;6480464 15489334;14702039;12477932;10997877 57684 Q9HCK0 AB046792;ABBA01043718;AC007066;AF323460;AK057445;AK058083;AMYH01021694;BC018748;CS300792;NM_020924 AAH18748;AAL55969;ABZ92366;BAB13398;BAG51915;CAK32456;NP_065975;Q9HCK0 Hs.5638 1790201;2171589;2173101 BE099743;G16510;RH69232 KIAA1572;ZNF481;bioref OTTHUMP00000022072;zinc finger and BTB domain-containing protein 26;zinc finger protein 481;zinc finger protein 483;zinc finger protein Bioref protein-coding 23383 15692 PROVISIONAL 1604369 ZBTB32 zinc finger and BTB domain containing 32 19 19 q13.1 40895670 40899780 + 36203830 36207940 + 6480464 10572087;17171645;16713569;16189514;15489334;12821938;12477932;11986317;11964310;10544010;14499622;20493880;20211142;18082604;19447967;20147518;23088713 27033 K7EMJ1;Q9Y2Y4 ABBA01018760;AC002314;AD000671;AF130255;AF165097;AMYH01009731;BC017700;NM_014383 AAD27708;AAD48448;AAH17700;NP_055198;Q9Y2Y4 Hs.99430 2218130 TZFP_3812 FAXF;FAZF;Rog;TZFP;ZNF538 FANCC-interacting protein;OTTHUMP00000045790;fanconi anemia zinc finger protein;repressor of GATA;testis zinc finger protein;zinc finger and BTB domain-containing protein 32;zinc finger protein 538 protein-coding ENSG00000011590 16763 12055 605859 PROVISIONAL 1344853 ZBTB25 zinc finger and BTB domain containing 25 14 14 14 q23-q24 45011284 45028284 - 64023308 64040307 - 64953555 64970554 - 1580863;6480464 16189514;2027750;16713569;15489334;14702039;12477932;20410506;19394292;20211142;21906983 7597 G3V2K3;G3V351;P24278 ABBA01018363;AK098181;AK313889;AL049869;AMYH01005799;BC035804;BM550005;CH471061;NM_006977;X16576 AAH35804;ABZ92441;ADZ15350;BAG53588;CAA34595;EAW80859;EAW80860;EAW80861;NP_008908;P24278 Hs.654571 2108677;5020988 D22S958;ZNF46_8738 C14orf51;KUP;ZNF46 OTTHUMP00000180662;OTTHUMP00000180663;zinc finger and BTB domain-containing protein 25;zinc finger protein 46;zinc finger protein KUP protein-coding ENSG00000089775 13112 01926 194541 VALIDATED 1352612 ZBTB37 zinc finger and BTB domain containing 37 1 1 1 q25.1 146946962 146965241 + 172104155 172109404 + 173837493 173855774 + 737633;6480464 12477932 19240061;16710414;16344560;15489334;14702039;18654987 84614 Q5TC79;Q8WYT0 ABBA01027895;ABBA01027896;AF318371;AK057310;AK302696;AL136170;AMYH01001505;BC003116;BC006315;CH471067;DA790498;DA796002;NM_001122770;NM_032522 AAH03116;AAH06315;AAL55878;BAB71422;BAH13780;EAW90967;EAW90968;NP_001116242;NP_115911;Q5TC79 Hs.668497 D430004I08Rik;MGC2629;ZNF908 OTTHUMP00000035388;OTTHUMP00000035389;OTTHUMP00000035391;zinc finger and BTB domain-containing protein 37 protein-coding ENSG00000185278 28365 15694 PROVISIONAL 1353634 ZBTB3 zinc finger and BTB domain containing 3 11 11 11 q12.3 59847033 59850254 - 62275011 62278190 - 62518435 62521656 - 1580863;6480464 16344560;15489334;15231748;14702039;12477932;20211142;19322201 79842 E9PPE9;Q9H5J0 ABBA01003242;AK027045;AMYH01003690;AP001160;BC025249;CH471076;DA770074;NM_024784 AAH25249;ABM83768;ABW03537;BAB15636;EAW74088;EAW74089;NP_079060;Q9H5J0 Hs.147554 5014051;5015619;5020740;5020881;5022200;5037552 D11S3114;D8S2278;D8S2279;L17709;L17809;L18426 FLJ23392 OTTHUMP00000236337;zinc finger and BTB domain-containing protein 3 protein-coding ENSG00000185670 22918 15693 VALIDATED 6481061 ZBTB40-IT1 ZBTB40 intronic transcript 1 (non-protein coding) 100874345 AL035703 miscrna 41493 1353753 ZBTB34 zinc finger and BTB domain containing 34 9 9 9 q33.3 100275414 100302734 + 128662765 128687978 + 129622944 129648157 + 6480464 16718364;14702039;12477932;12056414;18029348 403341 Q8NCN2 AB082524;ABBA01043817;ABBA01043818;ABBA01043819;AK055661;AK074274;AL160169;AL354944;AMYH01021721;BC020929;BC035710;DQ227306;NM_001099270 AAI60177;ABA86591;BAC02702;NP_001092740;Q8NCN2 Hs.177633 1856667;2115499 D9S1771;WI-15601 FLJ22470;KIAA1993;MGC24652;RP11-106H5.1;ZNF918 OTTHUMP00000022158;zinc finger and BTB domain-containing protein 34 protein-coding ENSG00000177125 31446 611692 VALIDATED 1316223 ZBTB4 zinc finger and BTB domain containing 4 17 17 17 p13.1 7388636 7413835 - 7303421 7328241 - 7362685 7387568 - 737633;1580863;6480464 12477932 18451802;16354688;16344560;14702039;10819331;19448668;16751776;20403812;19471022;21693764;21765466 57659 B3KVD4;Q9P1Z0 AB040971;ABBA01054869;ABBA01054870;ABBA01054871;AC113189;AK027143;AK122826;AK122971;AMYH01008082;AMYH01008083;AY302699;BC015902;BC033259;BC043352;BC131774;CH471108;DA125392;NM_001128833;NM_020899 AAH33259;AAH43352;AAI31775;AAP59447;BAA96062;BAG53746;BAG53828;EAW90185;NP_001122305;NP_065950;Q9P1Z0 Hs.35096 1689550;1694780;1777169 G43606;RH44508;WI-21649 KAISO-L1;KIAA1538;ZNF903 KAISO-like zinc finger protein 1;OTTHUMP00000135276;zinc finger and BTB domain-containing protein 4 protein-coding ENSG00000174282 23847 11693 612308 VALIDATED 1605102 ZBTB39 zinc finger and BTB domain containing 39 12 12 12 q13.3 57046548 57054160 - 55678885 55686497 - 57392617 57400297 - 6480464 9205841;12477932;21139048;19322201 9880 O15060 AB002350;ABBA01008446;AC026120;AK292468;AMYH01004510;BC140890;BC146867;BC152461;CH471054;NM_014830 AAI40891;AAI46868;AAI52462;BAA20809;BAF85157;EAW96971;NP_055645;O15060 Hs.591025 1676894;1857397 RH79858;WI-22389 KIAA0352;ZNF922 OTTHUMP00000244866;zinc finger and BTB domain-containing protein 39 protein-coding ENSG00000166860 29014 13796 VALIDATED 1351169 ZBTB33 zinc finger and BTB domain containing 33 This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010] X X q23 119268635 119276279 + 119384607 119392251 + 6480464 10207085;18029348;19508730;18794111;18653469;16530985;16381901;16354688;16230345;15953356;15817151;15781635;15772651;15592455;15564377;15548582;15489336;15489334;14702039;14699141;14527417;12477932;11461664;11445535;11230166;11076863;15543138;22590627;20586187;19502788;19615732;19615783;19394292;21070476;20169156;20382170;21252943;22662240;22949637;22833212;22276175;22300642;21670201;21963094;23226276;21987572;19471022;21139048;21693764;21890473;21906983;19322201;23251453;22974583 10009 Q86T24 ABBA01049614;AC002086;AK092998;AK094230;AK312321;AL833604;AL833856;AMYH01022916;BC042753;BX538016;BX538101;CH471107;DB468333;NG_021334;NM_001184742;NM_006777 AAB54087;AAH42753;BAG35243;CAD38715;CAD91170;CAD97963;CAD98016;CAL38182;EAX11891;NP_001171671;NP_006768;Q86T24 Hs.143604 1648724;1675682;2122884;2187476 AL008944;RH47097;RH78409;SHGC-30611 ZNF-kaiso;ZNF348 OTTHUMP00000023933;OTTHUMP00000023935;OTTHUMP00000245265;WUGSC:H_DJ525N14.1;kaiso transcription factor;transcriptional regulator Kaiso;zinc finger and BTB domain-containing protein 33 APPROVED protein-coding ENSG00000177485 16682 02269 300329 REVIEWED 1603531 ZBTB38 zinc finger and BTB domain containing 38 The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010] 3 3 3 q23 139466550 139592174 + 142525745 142651324 + 141043055 141168634 + 6480464 19266077;18391952;18391951;18391950;18193045;21188497;17081983;16641997;16354688;16344560;14702039;12477932;18851979;20546612;18029348;19343178;19396169;19893584;20189936;20846217;20966902;21906983;21743467;21998595;22210626;22379092;20881960 253461 D6R9I1;D6R9J6;D6R9U6;D6RAC4;D6RBC4;D6RC86;D6RE69;D6RGK1;D6RHD1;D6RJE1;J3KPK6;Q8NAP3;Q9H6F0 AA683353;ABBA01059048;AC010184;AC117383;AK025985;AK055693;AK092355;AK094201;AK302568;AK307452;AK311501;AL833148;AMYH01013542;BC008901;BC015444;BC022936;BC051734;BC072415;BC107745;CH471052;DA347543;DC420906;NG_021426;NM_001080412 AAI07746;AAI72286;BAB15309;BAB70986;BAC03868;BAG52843;BAG63830;EAW79004;EAW79005;NP_001073881;Q8NAP3 Hs.518301 1646063;1735246;1735346;1768309;1846747;1846793;1851791;1853475;2151217 A006U06;D3S2830E;D3S2911E;D3S2965E;D3S3106;RH65567;SHGC-58314;STS-D60661;WI-17024 CIBZ;FLJ22332;FLJ31131;FLJ35036;ZNF921 OTTHUMP00000217600;OTTHUMP00000217601;OTTHUMP00000217602;OTTHUMP00000217603;OTTHUMP00000217654;OTTHUMP00000217655;OTTHUMP00000217656;OTTHUMP00000217657;OTTHUMP00000217658;OTTHUMP00000217659;OTTHUMP00000217660;zinc finger and BTB domain-containing protein 38 APPROVED protein-coding 26636 612218 REVIEWED 1604838 ZBTB40 zinc finger and BTB domain containing 40 1 1 1 p36 21101713 21181052 + 22650931 22730237 + 22778344 22857650 + 6480464 18445777;16710414;16344560;15302935;14702039;12477932;12168954;10737800;9455484;21533022;20554715;19801982;20379614;17525332;22824048;19471022;21139048;20467438;22504420;23472165 9923 B1AKC8;B3KR52;F8WAI8;Q1RMZ5;Q9NUA8 AB007947;ABBA01059848;AK091019;AK095273;AK314747;AL035703;AL358788;AMYH01000351;BC114607;BF919358;CH471134;DA248977;DA326727;DA787818;NM_001083621;NM_014870 AAI14608;BAA32323;BAC04518;BAG37287;BAG52264;EAW95011;EAW95012;NP_001077090;NP_055685;Q9NUA8 Hs.418966 1689945;1692700;1698106;1719205;1732810;1852049;2129529;2183481;2191211;5022200;5037744 AL033956;D1S1261;D1S2179;D1S3694;L18426;MARC_16295-16296:1017412991:1;RH102585;RH123321;RH12833;RH80410;SHGC-56900 KIAA0478;MGC133098;ZNF923 OTTHUMP00000002942;zinc finger and BTB domain-containing protein 40 protein-coding ENSG00000184677 29045 11086 612106 VALIDATED 1603485 ZBTB41 zinc finger and BTB domain containing 41 1 1 1 q31.3 170248322 170295159 - 195389437 195436295 - 197122814 197169672 - 6480464 16710414;14702039;12477932;10737800;21890473;19322201;23381943 360023 Q5SVQ8;Q8N9U5 ABBA01027596;AK128549;AL356315;AL627208;AMYH01001618;AW856335;AY163816;AY336933;BC043426;BC132818;BC136600;BX640886;CH471067;NM_194314 AAI32819;AAI36601;AAN71742;AAP97434;BAC87496;CAE45940;EAW91275;NP_919290;Q5SVQ8 Hs.529439 1670578;1698892 RH103014;SHGC-76088 DKFZp686C06120;FLJ36199;FRBZ1;RP11-469L3.1;ZNF924 FRBZ1 protein (FRBZ1);OTTHUMP00000034407;zinc finger and BTB domain-containing protein 41 protein-coding 24819 17017 VALIDATED 2290506 ZBTB42 zinc finger and BTB domain containing 42 14 14 14 q32.33 85322008 85326127 + 104339936 104342094 + 105266933 105271049 + 6480464 15489334;12477932;19913121;20628086;21193930 100128927 B2RXF5 ABBA01002983;ABBA01002984;ABBA01002985;AK125003;AL138144;AL590327;AMYH01006064;AMYH01006065;AMYH01006066;AX721091;BC157833;BC171822;NM_001137601 AAI57834;AAI71822;B2RXF5;NP_001131073 Hs.170853 1661930 RH78057 FLJ43013;MGC189728;ZNF925 OTTHUMP00000244404;zinc finger and BTB domain-containing protein 42 protein-coding 32550 613915 VALIDATED 1343623 ZBTB47 zinc finger and BTB domain containing 47 3 3 3 p22.1 42635572 42649469 + 42675878 42684076 + 42695176 42709072 + 737633;6480464 12477932 15489334;10574461;20116376 92999 D6RDG5;H7BXD3;Q6ZSY6;Q9UFB7 AB033016;ABBA01024763;AC006059;AK127065;AL133062;AMYH01013114;AMYH01013115;BC021855;BF509106;CH471055;NM_145166 AAH21855;ADZ15904;BAA86504;BAC86810;CAB61386;EAW64662;NP_660149;Q9UFB7 Hs.409561 1663631;1848498;2172953 A002A29;HSC1MF122;SHGC-76863 DKFZp434N0615;KIAA1190;ZNF651 OTTHUMP00000209479;OTTHUMP00000221940;zinc finger and BTB domain-containing protein 47;zinc finger protein 651 protein-coding 26955 15888 VALIDATED 1321100 ZBTB43 zinc finger and BTB domain containing 43 9 9 9 q33.3 100219618 100252944 + 128607182 128637318 + 129567285 129600489 + 1580863;6480464 16542149;16344560;16189514;15489334;12477932;9455477;18029348;19847924;22939629;19322201 23099 O43298;Q5JU97 AB007874;ABBA01043817;AF049907;AK026123;AL161731;AL354944;AMYH01021719;BC008828;BT007194;CH471090;DA500531;DA864775;NM_001135776;NM_014007 AAC05500;AAH08828;AAP35858;BAA24844;EAW87643;NP_001129248;NP_054726;O43298 Hs.355581 1657227;1662484;1687251;1786960;1847964;2108671;5015861;5015961;5019657;5022578;7185938 A006K05;D10S16;D15S1477;D1S1423;G32368;HSC2FG042;RH92108;SHGC-144523;SHGC-3313;ZNF297B_9305 ZBTB22B;ZNF-X;ZNF297B OTTHUMP00000022155;OTTHUMP00000022156;OTTHUMP00000022157;zinc finger and BTB domain-containing protein 22B;zinc finger and BTB domain-containing protein 43 protein-coding ENSG00000169155 17908 08346 VALIDATED 1315520 ZBTB49 zinc finger and BTB domain containing 49 4 4 4 p16.3 4189549 4221151 + 4342879 4374410 + 4291924 4323513 + 737633;6480464 12477932 15489334;14702039 166793 A8K936;D6RB16;D6RC96;D6RJ00;H0Y8P2;H0YAD4;Q32MK9;Q32ML0;Q6ZSB9 AB209466;ABBA01008244;AC011744;AC105415;AK095878;AK127560;AK292551;AL832751;AMYH01013900;BC016477;BC089401;BC109087;BC109088;CA435417;CH471131;NM_145291 AAH16477;AAH89401;AAI09088;AAI09089;BAC87035;BAD92703;BAF85240;EAW82433;EAW82436;NP_660334;Q6ZSB9 Hs.419997 1335107;1655561;1685974;1769462;1770287;2178644;2218686 D4S1359;D4S3023;G34214;RH92400;SHGC-24756;SHGC-50475;ZNF509__4862 FLJ38559;MGC126279;MGC126280;ZNF509 OTTHUMP00000115375;zinc finger and BTB domain-containing protein 49;zinc finger protein 509 APPROVED protein-coding ENSG00000168826 19883 10335 VALIDATED 1606019 ZBTB44 zinc finger and BTB domain containing 44 11 11 11 q24.3 127264450 127352483 - 129608335 129689817 - 130096572 130184607 - 6480464 15489334;15231748;15146197;14702039;12477932;12107412;11042152 29068 H0YCZ0;H0YEM9;H7BY22;Q8NCP5 ABBA01023033;AC019227;AF161548;AI446067;AK023933;AK024659;AK026770;AK096676;AK130071;AK314701;AMYH01004128;AP001183;BC030580;BC040658;BC049375;BC050723;BC071729;CD671410;CH471065;CN423489;NM_014155 AAF29035;AAH30580;AAH49375;AAH50723;AAH71729;ABM81802;ABM84957;BAG37249;EAW67777;NP_054874;Q8NCP5 Hs.721470 1671203;1701284;1737035;1771268;1772150;1857921;2133181;2170052 A003N22;A003N24;D11S2784;RH104271;RH11664;SGC31184;SHGC-31843;WI-15664 BTBD15;HSPC063;MGC26123;MGC57431;MGC60348;MGC88058;ZNF851 BTB (POZ) domain containing 15;BTB/POZ domain-containing protein 15;OTTHUMP00000230934;OTTHUMP00000230935;OTTHUMP00000230937;OTTHUMP00000230938;zinc finger and BTB domain-containing protein 44;zinc finger protein 851 protein-coding ENSG00000196323 25001 13692 VALIDATED 1322100 ZBTB45 zinc finger and BTB domain containing 45 19 19 19 q13.43 56069007 56075032 - 63716709 63722733 - 59024897 59030921 - 1580863;6480464 16169070;15489334;14702039;12477932 84878 M0QZ57;M0R1I4;Q96K62 ABBA01020764;AC012313;AK027392;AL831909;AMYH01010039;BC024738;CH471135;NM_032792 AAH24738;ABZ92075;BAB55079;CAD38572;EAW72602;EAW72603;EAW72604;NP_116181;Q96K62 Hs.515662 1664829 SHGC-57775 DKFZp547H249;FLJ14486;ZNF499 zinc finger and BTB domain-containing protein 45;zinc finger protein 499 protein-coding ENSG00000119574 23715 15808 PROVISIONAL 1345627 ZBTB46 zinc finger and BTB domain containing 46 20 20 20 q13.33 59060148 59121043 - 61846322 61907300 - 62375021 62436856 - 6480464 15489334;22370726;14702039;12477932;12136098;11780052;21297633;21145461;23739915;19322201;21833088;23251661 140685 Q6ZMU8;Q86UZ6 ABBA01021419;ABBA01021420;ABBA01021421;ABBA01021422;ABBA01021423;ABBA01021424;ABBA01021425;AK023564;AK126720;AK131482;AL121845;AMYH01012091;AMYH01012092;AMYH01012093;BC052269;BC073800;CH471077;NM_025224 AAH52269;AAH73800;BAD18627;EAW75205;EAW75206;NP_079500;Q86UZ6 Hs.585028 1682802;1686156;1687716;2125077 D20S568E;RH12285;RH98655;SHGC-31176 BTBD4;BZEL;FLJ13502;RINZF;ZNF340;dJ583P15.7;dJ583P15.8 BTB (POZ) domain containing 4;BTB-ZF protein expressed in effector lymphocytes;BTB/POZ domain-containing protein 4;OTTHUMP00000031601;zinc finger and BTB domain-containing protein 46;zinc finger protein 340 protein-coding ENSG00000130584 16094 16567 614639 VALIDATED 1606940 ZBTB7C zinc finger and BTB domain containing 7C 18 18 18 q21.1 42403417 42417178 - 43807731 43821492 - 45553639 45663680 - 6480464 9427755;17932560;14702039;1716694;22253232;22331133 201501 A1YPR0;B2RG49;B2RG53;B2RG63;B2RG76;B2RGG0 ABBA01018630;ABBA01018631;AC105042;AC105101;AK095226;AM988836;AM988837;AM988838;AM988839;AMYH01008982;CD366839;EF120357;NM_001039360 A1YPR0;AAI67847;ABL98073;CAQ43041;CAQ43042;CAQ43043;CAQ43044;NP_001034449 Hs.515388;Hs.732162 1686144;1757845;1783666;1783700;1786714 D20S574E;SHGC-144188;SHGC-146679;SHGC-154054;SHGC-154857 APM-1;APM1;FLJ37907;ZBTB36;ZNF857C B230208J24Rik;BTB/POZ-zinc finger protein-like;affected by papillomavirus DNA integration in ME180 cells protein 1;zinc finger and BTB domain containing 36;zinc finger and BTB domain-containing protein 36;zinc finger and BTB domain-containing protein 7C;zinc finger protein 857C protein-coding ENSG00000184828 31700 VALIDATED 1346774 ZBTB48 zinc finger and BTB domain containing 48 1 1 1 p36.3 5753931 5763198 + 6562698 6571926 + 6640063 6649340 + 1580863;6480464 8661141;16189514;15489334;15342556;12477932;9516840;7969177;2850480;18029348;21900206 3104 K7EM76;K7ENV2;P10074;Q5SY20;Q5SY21 AA765826;ABBA01035458;AF318381;AK290156;AK312786;AL591866;AMYH01000217;BC013573;BI913659;BP281477;BX648395;CH471130;HY047768;L16896;M20677;NM_001278647;NM_001278648;NM_005341;U45324;U45325 AAA35989;AAA65124;AAB08973;AAB08974;AAH13573;AAL55888;ABM85099;ABM85100;BAF82845;BAG35649;EAW71555;EAW71556;EAW71557;NP_001265576;NP_001265577;NP_005332;P10074 Hs.502330 1656496;1761723;2109393;2112922;2112926;2119281;2134215;5107044;5107046 D1S3041;D1S3700E;D1S3702;D1S3712;D1S3713;HKR3_8403;RH78576;SHGC-145696;SHGC-74160 HKR3;ZNF855;pp9964 GLI-Kruppel family member HKR3;OTTHUMP00000001574;krueppel-related zinc finger protein 3;zinc finger and BTB domain-containing protein 48;zinc finger protein 855 protein-coding ENSG00000204859 4930 01316 165270 VALIDATED 1318711 ZBTB8A zinc finger and BTB domain containing 8A 1 1 1 p35.1 31272592 31340211 + 32777359 32844129 + 33004772 33071542 + 737633;1580863;6480464 12477932 16710414;16959974;16344560;14702039;16189514;20379614;17207965 653121 D3DPQ1;Q96BR9 ABBA01023413;ABBA01023414;ABBA01023415;AF548353;AK074546;AL033529;AMYH01000467;AMYH01000468;AY157873;BC015067;BC015239;BC029654;CH471059;DA530035;NM_001040441 AAH15067;AAH15239;AAH29654;AAN40800;AAN77376;ADQ32703;BAC11050;EAX07522;NP_001035531;Q96BR9 Hs.546479 1732826;1746749;5015404;5015619;5015959;5015961;5016478;5016596;5020242;5021369;5022450;5022588;5022651;5024756;5037552;5037554 D10S2448;D10S275;D11S2612;D11S2921;D11S3114;D15S1477;D1S1270;D5S1597E;D8S2279;D8S2282;G64793;GDB:434012;GDB:631802;L17705;L17796;RH80030 BOZF1;FLJ90065;MGC17919;ZBTB8;ZNF916A BOZ-F1;BTB/POZ and zinc-finger domain-containing factor;BTB/POZ and zinc-finger domains factor on chromosome 1;OTTHUMP00000009579;OTTHUMP00000009580;zinc finger and BTB domain containing 8;zinc finger and BTB domain-containing protein 8A protein-coding 24172 10315 VALIDATED 5134876 ZBTB8OSP1 zinc finger and BTB domain containing 8 opposite strand pseudogene 1 4 4 4 q31.3 148961565 148962022 + 151861583 151862040 + 151642127 151642768 + 729566 ABBA01070094;AC092544;AMYH01014613;NG_029802;NG_032855 1652487;1708942;2151959 D4S861;G17087;SHGC-79526 pseudo 19043 INFERRED 2307066 ZBTB8B zinc finger and BTB domain containing 8B 1 1 1 p35.1 31198480 31221280 + 32694834 32726047 + 32930658 32953460 + 6480464 16710414;14702039;15761153;16189514;22939629 728116 Q8NAP8 ABBA01023419;ABBA01023420;ABBA01023421;AL356986;AL442095;AMYH01000467;NM_001145720 CAH10660;NP_001139192;Q8NAP8 Hs.647658 5015861;7185938 D10S16 DKFZp547H154;RP1-27O5.1;ZNF916B OTTHUMP00000235076;putative zinc finger and BTB domain-containing protein 8B;zinc finger and BTB domain-containing protein 8B protein-coding ENSG00000215897 37057 PROVISIONAL 1314374 ZBTB6 zinc finger and BTB domain containing 6 9 9 9 q33.2 96318642 96323916 - 124710150 124715430 - 125670335 125675607 - 1580863;6480464 7958847;15489334;15231748;12477932;20211142;19121354 10773 Q15916 ABBA01043718;AC007066;AK098650;AK292401;AMYH01021694;BC037282;BU600946;BX390688;BX641237;CH471090;NM_006626;X82018 AAH37282;ABZ92297;BAF85090;CAA57543;EAW87552;NP_006617;Q15916 Hs.654596 ZID;ZNF482 OTTHUMP00000022074;zinc finger and BTB domain-containing protein 6;zinc finger protein 482;zinc finger protein with interaction domain protein-coding ENSG00000186130 16764 09341 605976 VALIDATED 4144726 ZBTB8OSP2 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 2 2 2 q37.1 226075026 226075489 - 232006918 232007381 - 232298483 232299141 - 729898 ABBA01002057;AC017104;AMYH01011557;NG_028934 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 pseudo 30326 INFERRED 1316525 ZBTB5 zinc finger and BTB domain containing 5 9 9 9 p13.2 37371332 37398639 - 37428111 37455396 - 37438099 37465407 - 1580863;6480464 16189514;15489334;12477932;9205841;16169070;19491398;20211142;21693764;21906983 9925 O15062;Q5T942 AB002352;ABBA01050395;ABBA01050396;AK292404;AL158155;AMYH01019358;AW075599;BC010007;CH471071;DB457364;NM_014872 AAH10007;ADZ16014;BAA20811;BAF85093;EAW58282;NP_055687;O15062 Hs.161276 1653090;1849634;1849636 A005W48;G20561;G21184 OTTHUMP00000021384;zinc finger and BTB domain-containing protein 5 protein-coding ENSG00000168795 23836 08829 VALIDATED 1603245 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand 1 1 1 p35.1 31355962 31384864 - 32859892 32888772 - 33087305 33116185 - 6480464 12477932;20936779;21139048;21890473 339487 A8K0B5;H7C3R6;Q7Z617;Q8IWT0 ABBA01023410;ABBA01023411;ABBA01023412;ABBA01023413;AC114489;AK289480;AL033529;AL138800;AMYH01000468;AMYH01000469;AY099493;AY099494;AY151084;AY151085;AY158005;BC058843;CH471059;NM_178547 AAH58843;AAM34477;AAM34478;AAN75223;AAN75224;AAO16589;BAF82169;EAX07516;EAX07517;EAX07518;EAX07519;NP_848642;Q8IWT0 Hs.655921 ARCH;ARCH2;MGC62007 OTTHUMP00000009581;OTTHUMP00000036124;archease (ARCH);archease-like protein;protein archease;zinc finger and BTB domain-containing opposite strand protein 8 protein-coding 24094 12470 PROVISIONAL 1350408 ZBTB7A zinc finger and BTB domain containing 7A 19 19 p13.3 3996216 4017816 - 4045216 4066816 - 6480464 15337766;18801742;18682402;18550205;18482847;18368381;18355317;22939629;22847180;17595526;17081983;15917220;15662416;15489334;15302935;14701838;12750370;12477932;12004059;11907272;9973611;9927193;8889548;19505873;22242598;22447046;21251909;20812024;20336405;17189472;20923760;19244234;19444642;19471103;20394500;16341674;21176152;21590684;23300578;23667531;21985851;21640721;19471022;21693764;21713761;21771706;21392388;21988832;23054188;23396304 51341 O95365;Q8TB76 ABBA01056095;ABBA01056096;ABBA01056097;ABBA01056098;ABBA01056099;AC016586;AF000561;AF097916;AL390151;AMYH01009322;AMYH01009323;AMYH01009324;BC019108;BC080608;BC084568;BC113511;BM696365;BQ082585;BQ711712;CB047382;CB242327;CH471139;NM_015898 AAB58414;AAC72973;AAH19108;AAH84568;AAI13512;EAW69266;EAW69267;EAW69268;EAW69269;EAW69270;EAW69271;EAW69272;NP_056982;O95365 Hs.591384 1647981;1675529;2126315;2171177;2191391 A006W32;MARC_21177-21178:1027091454:1;RH47736;RH79859;STS-R06252 DKFZp547O146;FBI-1;FBI1;LRF;MGC99631;ZBTB7;ZNF857A;pokemon HIV-1 1st-binding protein 1;HIV-1 inducer of short transcripts binding protein;POK erythroid myeloid ontogenic factor;POZ and Krueppel erythroid myeloid ontogenic factor;TIP21;TTF-I-interacting peptide 21;factor binding IST protein 1;factor that binds to inducer of short transcripts protein 1;leukemia/lymphoma-related factor;lymphoma related factor;zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein;zinc finger and BTB domain-containing protein 7A;zinc finger and btb domain containing 7;zinc finger protein 857A protein-coding ENSG00000178951 18078 10433 605878 VALIDATED 1349089 ZC2HC1B zinc finger, C2HC-type containing 1B 6 6 6 q24.2 144925982 144999908 + 144227317 144301186 + 144185573 144259483 + 6480464 14574404;12477932 153918 B7ZW40;H7C2Y9;Q5TFG8 ABBA01025743;ABBA01025744;AL049844;AMYH01016723;BC146950;BC146969;BC171862;CH471051;DB515645;NM_001013623 AAI46951;AAI46970;AAI71862;EAW47857;NP_001013645;Q5TFG8 Hs.121188 1686758 RH99001 C6orf94;FAM164B;dJ468K18.5 OTTHUMP00000017341;family with sequence similarity 164, member B;hypothetical protein LOC153918;protein FAM164B;zinc finger C2HC domain-containing protein 1B APPROVED protein-coding ENSG00000118491 21174 10178 VALIDATED 1354226 ZBTB9 zinc finger and BTB domain containing 9 6 6 6 p21.32 34976782 34979747 + 33530334 33533299 + 33422356 33425321 + 737633;1580863;6480464 12477932 15489334;14702039;21685187;19851445;17207965;20211142;18029348;19471022;21139048;21693764;21906983 221504 Q96C00 ABBA01038152;AK122644;AK313571;AL662799;AMYH01016247;BC014978;BC048321;BX088650;BX488390;CH471081;NM_152735 AAH14978;ADQ32645;BAG36344;BAG53637;EAX03739;NP_689948;Q96C00 Hs.591805 1666448;2108549;5127011 RH36442;RH78785;SYNGAP1_8862 MGC23166;ZNF919 OTTHUMP00000178750;zinc finger and BTB domain-containing protein 9 protein-coding ENSG00000213588 28323 15695 VALIDATED 1603332 ZC3H11B zinc finger CCCH-type containing 11B pseudogene 1 1 1 q41 64178432 64183656 + 217847890 217853110 - 219781269 219786487 - 22685421 643136 ABBA01048092;AC096643;AL356364;AMYH01001739;AMYH01001740;CH471100;NG_007367 EAW93317 1762703 SHGC-146498 ZC3HDC11B pseudo 25659 INFERRED 1314302 ZBTB7B zinc finger and BTB domain containing 7B This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] 1 1 q21.3 153241736 153257623 + 154975106 154991001 + 1580863;6480464 7937772;17698844;16710414;16189514;15489334;12477932;11691585;10856292;9421237;9370309;20211142;20810990;20847520;18029348;18298657;19453261;19479890;19886737;23315079;23609452;16344560;18800158;19696430;20307210;20809492;20969593;21357543;21762816;21948191;22139845;22246292;19505873;22730529;21988832;23349906 51043 O15156 ABBA01016720;ABBA01016721;ABBA01016722;AF007833;AI270090;AK127884;AK291619;AK304762;AL451085;AMYH01001423;AW663133;BC012070;BC128176;BF510901;BM801567;BX114870;CH471121;CK820289;CR749303;CV572166;DA970906;DB241444;NM_001252406;NM_001256455;NR_045515;NR_046206;NR_049765 AAC51847;AAH12070;ABZ92023;ACE86946;ACE86993;ACE86999;ACE87634;ACE87682;ACE87688;BAF84308;BAG65517;CAH18158;EAW53149;EAW53150;EAW53151;NP_001239335;NP_001243384;O15156 Hs.729279;Hs.744441 1670517;1707974;2110059 L17988;SHGC-84651;ZFP67__4945 DKFZp686G01254;THPOK;ZBTB15;ZFP-67;ZFP67;ZNF857B;c-Krox;hcKrox OTTHUMP00000035544;OTTHUMP00000035545;T-helper-inducing POZ/Krueppel-like factor;krueppel-related zinc finger protein cKrox;kruppel-related zinc finger protein hcKrox;zfp-67;zinc finger and BTB domain containing 15;zinc finger and BTB domain-containing protein 15;zinc finger and BTB domain-containing protein 7B;zinc finger protein 67 homolog;zinc finger protein 67 homolog (mouse);zinc finger protein 857B;zinc finger protein Th-POK APPROVED protein-coding ENSG00000160685 18668 09625 607646 REVIEWED 1602083 ZC3H12C zinc finger CCCH-type containing 12C 11 11 11 q22.3 107117954 107196032 + 109469297 109547776 + 109964087 110042566 + 6480464 18178554;14702039;11214970;17114934;17903301;20379614;21903422 85463 B4DR47;E9PP00;Q9C0D7 AB051513;AB096241;ABBA01039839;ABBA01039840;AK095101;AK295437;AK299100;AL832893;AMYH01004026;AP000901;AP001889;NM_033390 BAB21817;BAG58377;BAG61159;NP_203748;Q9C0D7 Hs.376289 1671751;1672581;1732393;1737787;1763099;1769322;2111766;2147568;2151771 D11S1865;D11S3389;D11S4469;D11S4676;RH47345;RH66754;SHGC-146834;SHGC-34524;STS-D59827 KIAA1726;MCPIP3 MCP induced protein 3;MCP-induced protein 3;OTTHUMP00000233504;OTTHUMP00000233505;OTTHUMP00000233506;probable ribonuclease ZC3H12C;zinc finger CCCH domain-containing protein 12C protein-coding ENSG00000149289 29362 615001 VALIDATED 1316129 ZC2HC1C zinc finger, C2HC-type containing 1C 14 14 14 q24.3 55573960 55582456 + 74606052 74614552 + 75536299 75544799 + 6480464 16189514;15489334;14702039;12477932 79696 E9PJ43;E9PMG6;E9PNG2;G3V3E3;H0YE08;J3KMY6;Q53FD0 ABBA01030707;AK026746;AK223359;AK303882;AL049780;AMYH01005857;BC004259;BQ061857;CH471061;N62812;NM_001042430;NM_024643 AAH04259;BAB15541;BAD97079;BAG64818;EAW81217;EAW81218;EAW81219;NP_001035895;NP_078919;Q53FD0 Hs.48642 1697708;2129232 G36089;RH102372 C14orf140;FAM164C;FLJ23093 OTTHUMP00000235939;OTTHUMP00000235940;OTTHUMP00000246808;chromosome 14 open reading frame 140;family with sequence similarity 164, member C;hypothetical protein LOC79696;protein FAM164C;zinc finger C2HC domain-containing protein 1C APPROVED protein-coding ENSG00000119703 20354 16607 VALIDATED 1602891 ZC2HC1A zinc finger, C2HC-type containing 1A 8 8 8 q21.12 75582002 75635724 + 79740885 79792490 + 79578282 79632000 + 6480464 16964243;16344560;15489334;14702039;12477932;10810093;17207965;21832049;19322201 51101 B2R9B8;H0YAP0;Q96GY0 ABBA01004083;ABBA01004084;ABBA01004085;AC100854;AF151820;AK024711;AK094296;AK313723;AMYH01018813;AMYH01018814;BC009074;BC035905;BU075578;CH471068;DA137885;NM_016010 AAD34057;AAH09074;ADQ32292;BAG36465;EAW87059;NP_057094;Q96GY0 Hs.271876 1673160;1698808;1723929 RH102967;RH118695;RH47335 C8orf70;CGI-62;FAM164A OTTHUMP00000227042;family with sequence similarity 164, member A;hypothetical protein LOC51101;protein FAM164A;zinc finger C2HC domain-containing protein 1A APPROVED protein-coding 24277 13039 VALIDATED 1602996 ZC3H10 zinc finger CCCH-type containing 10 12 12 12 q13.2 56164175 56168423 + 54798297 54802545 + 56512030 56516278 + 6480464 19240061;18814840;16713569;16189514;15489334;14702039;12477932;21145461 84872 F8VQT2;F8VSG0;F8VYY3;Q96K80 ABBA01008405;AC034102;AK027357;AMYH01004500;BC018708;CH471054;NM_032786 AAH18708;ACE87035;ACE87719;BAB55059;EAW96888;EAW96889;NP_116175;Q96K80 Hs.632706 1646297;1699182;1771706;2128149;2137395 D12S1978;RH103171;RH46352;RP_L41_1;STS-AA035449 FLJ14451;ZC3HDC10 OTTHUMP00000243152;OTTHUMP00000243201;zinc finger CCCH domain-containing protein 10;zinc finger CCCH-type domain containing 10 protein-coding ENSG00000135482 25893 07860 PROVISIONAL 1602205 ZC3H12A zinc finger CCCH-type containing 12A ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008] 1 1 1 p34.3 36218067 36227926 + 37712706 37722565 + 37940119 37949978 + 6480464 19185603;18364357;18178554;16574901;16344560;16189514;15862967;14702039;12477932;19747262;20807520;18029348;22055188;21900206;21903422;21971051;22196138;22132693;22820500;21988832;23185455;23355615;22505724 80149 Q5D1E8;R4GN17 ABBA01023277;ABBA01023278;AK026884;AK093343;AL034379;AL449284;AMYH01000501;AY920403;BC005001;CH471059;CR457364;CR995909;DA601465;FJ695517;NM_025079 AAH05001;AAX14017;ACN39723;BAB15581;BAG52695;CAG33645;EAX07346;EAX07347;EAX07348;NP_079355;Q5D1E8 Hs.656294 1701636 RH104462 FLJ23231;MCPIP;MCPIP1;RP3-423B22.1;dJ423B22.1 MCP induced protein 1;MCP-1 treatment-induced protein;MCP-induced protein 1;OTTHUMP00000004398;OTTHUMP00000004399;ribonuclease ZC3H12A;zinc finger CCCH domain-containing protein 12A APPROVED protein-coding ENSG00000163874 26259 08021 610562 VALIDATED 1601698 ZC3H12B zinc finger CCCH-type containing 12B The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010] X X X q12 65055755 65074911 + 64625431 64644492 + 64708615 64727767 + 6480464 18178554;18029348;16344560;15772651;14702039;12477932;8889548 340554 E9PAJ6;Q5HYM0 ABBA01067020;ABBA01067021;ABBA01067022;AK091685;AL050306;AL712229;AMYH01022501;BC140767;BC171781;BU688472;BX415643;BX647241;CH471132;DA401831;DY655010;NG_021264;NM_001010888;Z83841 AAI40768;AAI71781;CAI46044;EAX05405;EAX05406;NP_001010888;Q5HYM0 Hs.21249 1661613;1702400;1846850;2138641;5019639 A005W20;DXS910;G32300;RH12487;SHGC-32201 CXorf32;MCPIP2 MCP-induced protein 2;OTTHUMP00000023434;OTTHUMP00000226684;probable ribonuclease ZC3H12B;zinc finger CCCH domain-containing protein 12B APPROVED protein-coding ENSG00000102053 17407 16774 300889 REVIEWED 1605103 ZC3H11A zinc finger CCCH-type containing 11A 1 1 1 q32.1 176894976 176957901 + 202031374 202089879 + 203764751 203823256 + 6480464 17081983;16964243;16565220;16344560;15489334;15302935;14702039;12477932;11181995;9734811;16189514;19060904;19536175;22939629;22586326;19596686;19471022;21139048;21693764;21906983;21252943;21628590;22505724 9877 C9J0L0;E9PBY7;E9PQ61;O75152 AB014563;ABBA01027467;ABBA01027468;ABBA01027469;ABBA01027470;AC114402;AK095858;AK296983;AK310470;AL049419;AMYH01001658;BC014268;BC038513;BC046137;BC048271;BX648271;BX649148;CA419266;CH471067;CR627439;CR627446;DA800934;NM_014827 AAH14268;AAH46137;BAA31638;BAG59524;CAH10525;CAH10530;CAH10553;CAH10566;EAW91492;EAW91493;NP_055642;O75152 Hs.532399 1670697;1687109;1697896;1773432;1856908;2125797;5092766;5113076;5117212;5124964 A006B32;AL009827;AL010093;G32317;GDB:451791;RH102476;RH79757;RH80717;RH99217;SHGC-57057 DKFZp686D03108;DKFZp686F14109;DKFZp781G2455;KIAA0663;ZC3HDC11A OTTHUMP00000034096;OTTHUMP00000034097;OTTHUMP00000034213;OTTHUMP00000034214;OTTHUMP00000034215;OTTHUMP00000034216;zinc finger CCCH domain-containing protein 11A;zinc finger CCCH-type domain containing 11A protein-coding ENSG00000058673 29093 11100 613513 VALIDATED 1345806 ZC3H12D zinc finger CCCH-type containing 12D 6 6 6 q25.1 150503861 150541240 - 149812571 149847723 - 149768766 149806148 - 6480464 17210687;18178554;17854321;15489334;14702039;14574404;12477932;19531561;18029348;22036805;21732829 340152 A2A288;B7ZBA4;H0Y4Y6;J3QT81 AB458221;AB458222;ABBA01025682;AK090441;AK127932;AL031133;AMYH01016734;BC127762;BC157832;NM_207360 A2A288;AAI27763;AAI57833;BAC03422;BAC87196;BAH28268;BAH28269;CAX11886;CAX11887;NP_997243 Hs.632618 1338402;1724739;1774208;5015861;5015961;5016596;5020740;5022578;5022651;5024413;5037552;7185938 D10S16;D11S2921;D15S1477;D1S1423;D6S1303;D6S1553;D8S2279;GDB:631802;L17809;L17877;RH122574 C6orf95;FLJ00361;FLJ46041;MCPIP4;TFL;dJ281H8.1;p34 MCP induced protein 4;MCP-induced protein 4;OTTHUMP00000183473;Zinc finger CCCH domain-containing protein 12D;chromosome 6 open reading frame 95;probable ribonuclease ZC3H12D;transformed follicular lymphoma;tumor suppressor TFL protein-coding 21175 611106 VALIDATED 1317090 ZC3H13 zinc finger CCCH-type containing 13 13 13 13 q14.13 27591025 27681609 - 45434315 45524895 - 46536314 46626894 - 6480464 17081983;16964243;15302935;15146197;15144186;15057823;15009096;14702039;12477932;11230166;10048485;20133760;20811636;22939629;15161933;19596686;19850743;20805357;22586326;23084401;15998806;22113938 23091 A0PJJ2;F8W781;Q5T200;Q5T9K0 AB020660;ABBA01050982;AK001815;AK056422;AK074924;AK092988;AL136745;AL157758;AL445232;AL831833;AMYH01005092;AMYH01005093;AY283618;BC019000;BC032425;BC050658;BC062685;BC107864;CH471075;CN262326;NM_015070 AAH19000;AAH32425;AAI07865;AAI56056;AAI57033;AAP37483;BAA74876;BAG50980;BAG52030;CAB66679;CAD38544;EAX08750;EAX08751;EAX08752;NP_055885;Q5T200 Hs.136102 1643642;1651032;1664226;1672988;1687808;1721919;1736332;1773231;1777842;1788200;2111538;2111724;2128351;2174121;2177044;2217188;7184668;7186794 CPB2_3955;D13S1161;D13S1506;D13S1628;D13S181E;D13S833E;G59992;G67450;RH45819;RH92354;SGC34601;SGC38098;SHGC-53446;SHGC-56715;T03607;WIAF-1544 DKFZp434D1812;FLJ35669;KIAA0853 OTTHUMP00000018356;OTTHUMP00000018357;zinc finger CCCH domain-containing protein 13 protein-coding ENSG00000123200 20368 08307 VALIDATED 1316375 ZC3H3 zinc finger CCCH-type containing 3 8 8 8 q24.3 140831713 140933556 - 144590968 144694763 - 144519825 144623620 - 737633;6480464 12477932 15489334;8590280;19364924;19851296;20198315;23509962;21139048;16115198 23144 H0YEY2;Q8IXZ2 AA806585;ABBA01005251;AC067930;AC105118;AMYH01019107;AMYH01019108;BC038670;BM148116;CH471162;D63484;NM_015117 AAH38670;BAA09771;EAW82249;NP_055932;Q8IXZ2 Hs.521915 1735794;2148722;2156668 D8S1406E;D8S1998;RH25370 KIAA0150;ZC3HDC3 OTTHUMP00000228527;zinc finger CCCH domain-containing protein 3;zinc finger CCCH type domain containing 3;zinc finger CCCH-type domain containing 3 protein-coding ENSG00000014164 28972 15697 VALIDATED 1316321 ZC3H4 zinc finger CCCH-type containing 4 This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011] 19 19 19 q13.32 44371326 44420889 - 52259284 52308849 - 47567444 47617009 - 6480464 11554449;15718139;15963892;17081983;16964243;15302935;15146197;14702039;12168954;10470851;22939629;20935630;19596686;20360068;23251661 23211 M0QY97;Q9UPT8 AB028987;ABBA01041002;ABBA01041003;AC008755;AK074282;AK125279;AL050155;AMYH01009876;AW603637;CN300565;NG_027798;NM_015168 BAA83016;CAB43296;NP_055983;Q9UPT8 Hs.104661 1683521;1703882;1720557;1778832;2137599 G59232;RH16434;RH48410;RH92750;SHGC-83586 C19orf7;KIAA1064 zinc finger CCCH domain-containing protein 4 APPROVED protein-coding ENSG00000130749 17808 VALIDATED 732811 ZC3H14 zinc finger CCCH-type containing 14 ZC3H14 belongs to a family of poly(A)-binding proteins that influence gene expression by regulating mRNA stability, nuclear export, and translation (Kelly et al., 2007 [PubMed 17630287]).[supplied by OMIM, Mar 2010] 14 14 14 q31.3 69074847 69125490 + 88099067 88149606 + 89029253 89079853 + 6480464 21355046;19303045;17630287;16344560;16189514;14702039;12477932;10508479;19273536;20658987;16159877;22939629;21734151;21628590;19471022;21139048;21890473;21906983;22586326;18029348;22505724 79882 G3V240;G3V256;G3V2X4;G3V3R9;G3V3Y4;G3V411;G3V473;G3V4R5;G3V572;G3V5I6;H0YJ51;H0YJ87;H0YJA2;Q86TQ5 ABBA01030527;ABBA01030528;ABBA01030529;AF155107;AF474376;AK021868;AK090809;AK302136;AK303123;AK304275;AL162171;AL359625;AL834215;AMYH01005935;AMYH01005936;AY578060;AY578061;AY578062;AY578063;BC011793;BC023641;BC027607;BC034274;BX248265;BX248281;BX248769;BX640716;BX640876;CH471061;DB050247;DB452844;NM_001160103;NM_001160104;NM_024824;NM_207660;NM_207661;NM_207662 AAD42873;AAH11793;AAH23641;AAH27607;AAL83289;AAS90299;AAS90300;AAS90301;AAS90302;ACE86966;ACE87656;BAG63510;BAG64229;BAG65136;CAD38897;CAD62593;CAD62609;CAD66576;CAE45835;CAE45933;EAW81384;EAW81385;EAW81386;EAW81387;EAW81388;EAW81389;EAW81390;EAW81391;EAW81392;NP_001153575;NP_001153576;NP_079100;NP_997543;NP_997544;NP_997545;Q6PJT7 Hs.686171 1673769;5110559 D14S1346;RH45165 FLJ11806;MGC26892;MSUT-2;NY-REN-37;SUT2;UKp68 OTTHUMP00000244412;OTTHUMP00000244413;OTTHUMP00000244416;OTTHUMP00000244418;OTTHUMP00000244420;OTTHUMP00000244421;OTTHUMP00000244422;OTTHUMP00000244425;OTTHUMP00000244427;OTTHUMP00000244428;OTTHUMP00000244429;mammalian suppressor of tau pathology-2;renal carcinoma antigen NY-REN-37;zinc finger CCCH domain-containing protein 14 APPROVED protein-coding ENSG00000100722 20509 13348 613279 VALIDATED 1321369 ZC3H8 zinc finger CCCH-type containing 8 2 2 2 q13 106033603 106072833 + 112689910 112729121 - 112973439 113012664 - 737633;1580863;6480464 12477932 15489334;12077251;12153508;17207965 84524 Q53RD8;Q8N5P1 ABBA01005781;ABBA01005782;AC092645;AC115115;AF334161;AK315329;AMYH01010950;BC032001;BG773518;CH471245;CV574571;NM_032494 AAH32001;AAK13496;AAY14855;AAY24050;ADQ33156;EAW52103;NP_115883;Q8N5P1 Hs.418416 1340718;1662714;1687648;2218654;7185112 D2S160;RH93396;STS-AA007304;ZC3HDC8__4927 Fliz1;ZC3HDC8 OTTHUMP00000203585;zinc finger CCCH domain-containing protein 8;zinc finger CCCH type domain containing 8;zinc finger CCCH-type domain containing 8 protein-coding ENSG00000144161 30941 11695 VALIDATED 1601751 ZC3H15 zinc finger CCCH-type containing 15 2 2 2 q32.1 180946684 180969891 + 187059130 187082333 + 187350885 187374088 + 6480464 19819225;14702039;12477932;10880228;18029348;20925576;17207965;22939629;21900206;15676025;21139048;21890473;21906983;16009940;22053931 55854 B4DMW2;F8WB26;F8WF67;H7C466;Q8WU90 ABBA01062338;ABBA01062339;AC018867;AF109366;AF147724;AF161421;AF220184;AF289586;AK001901;AK297658;AK298615;AL040058;AMYH01011336;BC012336;BC021102;CH471058;NM_018471 AAF28981;AAF67649;AAH21102;AAL55770;AAQ13514;AAX88885;ABW03804;ADQ32272;BAA91968;BAG60024;BAH12828;EAX10935;EAX10936;NP_060941;Q8WU90 Hs.741180 1724165;1776861;2152657;2170770;5093594 A009S24;G32811;RH121216;RH70209;T16069 HT010;LEREPO4;MSTP012 DRG family-regulatory protein 1;OTTHUMP00000205376;likely ortholog of mouse immediate early response erythropoietin 4;zinc finger CCCH domain-containing protein 15 protein-coding ENSG00000065548 29528 13988 VALIDATED 1322571 ZC3H7A zinc finger CCCH-type containing 7A 16 16 16 p13-p12 12018794 12050728 - 11751943 11783909 - 11844442 11891114 - 737633;1580863;6480464 12477932 17081983;15489334;14702039;11042152;20936779;16344560;16169070;19305408;21139048;21890473;21906983;22118674;22505724 29066 I3L1Y3;I3L282;I3L2K5;I3L2N8;I3L323;I3L382;I3L3F9;I3L3S2;Q8IWR0 ABBA01006830;ABBA01006831;ABBA01006832;AC007613;AC010654;AF161540;AK000325;AK000889;AK001869;AK026827;AK026956;AK091803;AMYH01007157;AMYH01007158;AMYH01007159;AY163807;BC012575;BC036857;BC046363;BX647154;CH471112;DA160892;NM_014153 AAF29027;AAH12575;AAH36857;AAH46363;AAO06906;BAA91087;BAA91408;BAA91952;EAW85138;EAW85139;EAW85140;NP_054872;Q8IWR0 Hs.371856 1660483;1676968;1690836;2119874;2155882 RH65161;RH68328;RH68685;RH76661;SHGC-35050 FLJ10027;FLJ20318;HSPC055;ZC3H7;ZC3HDC7 OTTHUMP00000160260;zinc finger CCCH domain-containing protein 7A;zinc finger CCCH type domain containing 7;zinc finger CCCH-type domain containing 7;zinc-finger protein AY163807 protein-coding ENSG00000122299 30959 11694 VALIDATED 1602304 ZC3H18 zinc finger CCCH-type containing 18 16 16 16 q24.2 73707153 73768044 + 87164343 87225761 + 88636789 88698372 + 6480464 12477932;21145461;17332742;21044950;17579712;15302935;14702039;8125298;15146197;16344560;19615732;20379614;22939629;18029348;19596686;21139048;21549307;22586326 124245 E7ERS3;H3BP01;H3BPD0;H3BRH3;H3BRN6;Q86VM9 ABBA01015842;ABBA01015843;AC116552;AK026317;AK091849;AK093394;AK122593;AK225807;AK300254;AK302716;AMYH01007911;AMYH01007912;BC001584;BC050463;CH471184;CN299704;DA313229;NM_144604 AAH01584;AAH50463;ACE86893;ACE87580;BAC56934;BAG52426;BAG52705;BAG62019;BAG63936;EAW66799;EAW66800;EAW66801;EAW66802;EAW66803;EAW66804;EAW66805;NP_653205;Q86VM9 Hs.93670 1699574;1740861;1751123;1853632 D16S3249;RH103388;RH69310;SHGC-105016 FLJ22664;FLJ34530;FLJ36075;NHN1 OTTHUMP00000175044;conserved nuclear protein NHN1;nuclear protein NHN1;zinc finger CCCH domain-containing protein 18 protein-coding ENSG00000158545 25091 11232 VALIDATED 1322317 ZC3H6 zinc finger CCCH-type containing 6 2 2 2 q13 105948735 105989201 - 112749649 112814111 + 113033178 113097640 + 6480464 16344560;15815621;14702039;12477932;8889548 376940 P61129;Q6ZN12 AB111887;ABBA01005776;ABBA01005777;ABBA01005778;ABBA01005779;ABBA01005780;AC115115;AK123404;AK127776;AK131416;AL831901;AMYH01010950;AMYH01010951;BC155540;BC167154;BM683817;BX649154;DA334613;NM_198581 AAI55541;AAI67154;BAC85608;BAC87128;BAC98375;BAD18563;NP_940983;P61129 Hs.190477 2127901;2141660;2218886;5015404;5020946;5022200;5024413 L17705;L17877;L17971;L18426;RH17794;RH69414;ZC3HDC6__4926 FLJ16526;FLJ41410;FLJ45877;KIAA2035;ZC3HDC6 OTTHUMP00000203604;zinc finger CCCH domain-containing protein 6;zinc finger CCCH type domain containing 6;zinc finger CCCH-type domain containing 6 protein-coding ENSG00000188177 24762 15698 VALIDATED 1317755 ZCCHC10 zinc finger, CCHC domain containing 10 5 5 5 q31.1 128462702 128492173 - 132360576 132390139 - 132332677 132362240 - 737633;1580863;6480464 12477932 16189514;15489334;14702039;16169070;17207965 54819 B3KVL5;D6R9G7;D6RHC2;D6RIV3;G3XAM1;Q8TBK6 ABBA01068786;ABBA01068787;AC113410;AF086446;AK000101;AK122970;AK300543;AMYH01015617;BC005211;BC015986;BC022443;CH471062;NM_017665 AAH05211;AAH22443;ADQ32238;BAA90946;BAG53827;BAG62251;EAW62296;EAW62297;EAW62298;EAW62299;EAW62300;NP_060135;Q8TBK6 Hs.29700 1780618;5124643 RH66003;bac51420T FLJ20094 OTTHUMP00000159263;OTTHUMP00000222568;OTTHUMP00000222569;OTTHUMP00000222570;OTTHUMP00000222572;OTTHUMP00000222573;zinc finger CCHC domain-containing protein 10 protein-coding ENSG00000155329 25954 15699 PROVISIONAL 1601938 ZC3HAV1L zinc finger CCCH-type, antiviral 1-like 7 7 7 q34 133448242 133458565 - 138360992 138371315 - 138710452 138720775 - 6480464 12477932;20811636;21832049;22939629;12938929;19953087;21139048;22118674;21628590;23273016 92092 Q96H79 AACC02000025;ABBA01001182;AC083868;AMYH01017974;BC008842;BC020784;CH236950;CH471070;NM_080660 AAH08842;AAH20784;EAW83900;NP_542391;Q96H79 Hs.512833;Hs.659143 2157530;5014063;5022651 D11S2921;D15S1390;RH65923 C7orf39;MGC14289 OTTHUMP00000211808;zinc finger CCCH-type antiviral protein 1-like protein-coding ENSG00000146858 22423 14440 VALIDATED 1601882 ZC3H7B zinc finger CCCH-type containing 7B This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008] 22 22 22 q13.2 25503966 25562550 + 40027513 40086097 + 41697567 41756151 + 6480464 15047801;18799579;16713569;15592455;15489334;14702039;12477932;11230166;10591208;10470851;8125298;20379614;22939629;22118674;21139048;22505724 23264 Q9BSS8;Q9UGR1 AB028954;ABBA01055628;ABBA01055629;AF188530;AK023849;AK225891;AK315009;AL035659;AL136802;AMYH01012801;AMYH01012802;BC004857;BC024313;BC047002;BC056860;BC098378;BC152558;CH471095;NM_017590 AAF05541;AAH04857;AAH24313;AAI52559;AAI67846;BAA82983;BAG37501;EAW60425;EAW60426;EAW60427;EAW60428;EAW60429;NP_060060;Q9UGR2 Hs.592188 2142992;5020274;5037552 D22S1546;D8S2279;L18441 DKFZp434K0920;FLJ13787;KIAA1031;RoXaN OTTHUMP00000198832;Rotavirus 'X' associated non-structural protein;rotavirus 'X'-associated non-structural protein;rotavirus X protein associated with NSP3;ubiquitous tetratricopeptide containing protein RoXaN;zinc finger CCCH domain-containing protein 7B APPROVED protein-coding ENSG00000100403 30869 06711 REVIEWED 1347342 ZC3HC1 zinc finger, C3HC-type containing 1 7 7 7 q32.2 124453864 124486984 - 129445362 129478469 - 129658126 129691233 - 737633;6480464 12477932 16105984;17081983;16964243;16381901;16009132;15489336;15489334;14702039;12853948;12748172;11076863;11042152;10737800;11256614;17389604;21378990;22863883;21832049;22955283;18029348;21139048;21906983;21900206;22205987;22505724 51530 C9J0I9;C9J672;F8WAU5;F8WBD7;F8WDK5;F8WF13;Q9BWJ8;Q9P0R0 AACC02000033;AACC02000034;ABBA01057601;ABBA01057602;ABBA01057603;ABBA01057604;ABBA01057605;ABBA01057606;AC073320;AC087071;AF151050;AJ537494;AK001317;AK022373;AMYH01017933;BC000190;BC011551;BC028917;BF745935;BX490781;CH236950;CH471070;NM_016478 AAF36136;AAH00190;AAH11551;AAH28917;AAS07546;AAS07547;BAA91619;BAB14024;CAD61161;CAL38293;EAL24097;EAW83738;EAW83739;EAW83740;EAW83741;EAW83742;EAW83743;NP_057562;Q86WB0 Hs.194157 1700634;2114520;2171508;2184468;2219182;5092992;5094881 A009D40;G32457;NIPA__6055;RH103940;RH12411;RH69855;ZC3HC1 1110054L24Rik;FBXO50;HSPC216;NIPA OTTHUMP00000212327;OTTHUMP00000212328;OTTHUMP00000212330;hNIPA;hematopoietic stem/progenitor cell protein 216;nuclear interacting partner of anaplastic lymphoma kinase (ALK);nuclear interaction partner of ALK;nuclear-interacting partner of ALK;nuclear-interacting partner of anaplastic lymphoma kinase;zinc finger C3HC-type protein 1 protein-coding ENSG00000091732 29913 VALIDATED 1349569 ZCCHC14 zinc finger, CCHC domain containing 14 16 16 16 q24.2 71736619 71822230 - 85997353 86082961 - 87439852 87525460 - 737633;1580863;6480464 12477932 16344560;16189514;15146197;12168954;9628581;19322201;22472876 23174 H3BS18;Q8WYQ9 AB011151;AB030243;ABBA01034330;ABBA01034331;ABBA01034332;AC010531;AC092720;AC105429;AK289682;AL117532;AMYH01007898;BC028304;BC038944;BC101478;CH471114;CN352228;DB038312;NM_015144 AAI01479;BAA25505;BAB83129;BAF82371;CAB55981;EAW95388;EAW95389;EAW95390;EAW95391;NP_055959;Q8WYQ9 Hs.156231 1704718;2114655;2172021;5106373 RH48496;SHGC-61175;SHGC-79020;STS-Z40721 BDG-29;BDG29;MGC126527;MGC14139 OTTHUMP00000175010;zinc finger CCHC domain-containing protein 14 protein-coding ENSG00000140948 24134 18316 VALIDATED 736106 ZC3HAV1 zinc finger CCCH-type, antiviral 1 This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008] 7 7 q34 138378806 138445005 - 138728266 138794465 - 6480464 18225958;17928353;17081983;16964243;15489334;15302935;14702039;14557641;12851707;12690205;12477932;12215647;11483580;22319148;21145461;20451500;20048147;16449650;21102435;19156129;18781797;19596686;21876179;21987572;21139048;21890473;21907836;22586326;16009940;19322201;21628590;18029348;21832049;22939629;22951821;22053931;22505724;22944692 56829 C9J6P4;H7C5K1;Q7Z2W4 AACC02000025;ABBA01001182;ABBA01001183;AC018644;AC083868;AF138863;AK023350;AK055851;AK098308;AK292811;AMYH01017974;AMYH01017975;BC002935;BC025308;BC027462;BC033105;BC038809;BC040956;BX571742;BX647138;BX647974;CH236950;CH471070;NG_029457;NM_020119;NM_024625 AAF61195;AAH02935;AAH25308;AAH27462;AAH33105;AAH40956;BAB14537;BAB71028;BAF85500;CAE11868;EAL24040;EAL24041;EAW83902;EAW83903;EAW83904;EAW83905;NP_064504;NP_078901;Q7Z2W4 Hs.133512 1337843;1650431;1653961;1660614;1705736;1789532;1789534;1797056;1850030;2144051;2162997;5016781;5022578;5037552;7185184 D1S1423;D7S2505;D7S2900;D7S3188;D7S3189;D8S2279;GDB:1317546;GDB:1317718;RH18282;RH45679;SGC44417;SHGC-67307;SHGC-83458;ZAP_1348 ARTD13;DKFZp686F2052;DKFZp686H1869;DKFZp686O19171;FLB6421;FLJ13288;MGC48898;PARP13;ZAP;ZC3H2;ZC3HDC2 ADP-ribosyltransferase diphtheria toxin-like 13;CCCH-type zinc finger antiviral protein;OTTHUMP00000212199;OTTHUMP00000212200;OTTHUMP00000212201;ccch-type zinc finger antiviral protein (zap);zinc finger CCCH domain-containing protein 2;zinc finger CCCH type, antiviral 1;zinc finger CCCH-type antiviral protein 1;zinc finger antiviral protein APPROVED protein-coding ENSG00000105939 23721 09534 607312 REVIEWED 2291777 ZCCHC18 zinc finger, CCHC domain containing 18 X X X q22.2 103831726 103835152 + 103245459 103247194 + 103357107 103360533 + 6480464 15772651;16344560;15146197 644353 P0CG32 ABBA01019075;AC234783;AF086548;AMYH01022808;CN272796;DA166381;DA503483;DA781887;NM_001143978;NR_026694;Z82254 NP_001137450;P0CG32 Hs.648338 1671995;1672758;1688823;1701170;1754643;1854656;2121201;2150931;2163099 L77846;L77847;RH104213;RH69847;RH79967;SGC33118;SGC34091;SHGC-132991;SHGC-58402 PNMA7B;Sizn2 Putative zinc finger CCHC domain-containing protein 18;paraneoplastic Ma antigen family member 7B;zinc finger, CCHC domain containing 12 pseudogene 1;zinc finger, CCHC domain containing 18;zinc finger, CCHC domain containing 18 pseudogene protein-coding 32459 VALIDATED 1342670 ZCCHC12 zinc finger, CCHC domain containing 12 X X X q24 118412636 118415780 + 117841815 117844959 + 117957787 117960931 + 737633;6480464 12477932 18798319;18160706;16189514;15489334;14702039;17207965;19416967;19578717;21832049;21739307;21139048;21906983 170261 Q6PEW1 ABBA01036751;ABBA01036752;AC006965;AK122676;AMYH01022879;BC018066;BC031241;BC033958;BC036572;BC057841;CH471161;NM_173798 AAH31241;AAH36572;AAH57841;ADQ32984;BAG53660;EAW89892;NP_776159;Q6PEW1 Hs.21417 1690844;1702964;2154492 DXS7040E;RH81071;WI-21204 FLJ16123;PNMA7A;SIZN;SIZN1 2810028A01Rik;OTTHUMP00000023892;paraneoplastic Ma antigen family member 7A;smad-interacting zinc finger protein 1;zinc finger CCHC domain-containing protein 12 protein-coding ENSG00000174460 27273 06616 300701 PROVISIONAL 1349237 ZC4H2 zinc finger, C4H2 domain containing This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] X X X q11.2 64483059 64601403 - 64052986 64113061 - 64135682 64254624 - 6480464;7240710 16189514;15772651;15489334;14702039;12477932;12097419;10574461;8125298;17474147;20932654;17210253;19132878;21668950;15342556;16344560;23623388 55906 Q9H9C3 AB032992;ABBA01066949;ABBA01066950;ABBA01066951;ABBA01066952;ABBA01066953;ABBA01066954;ABBA01066955;ABBA01066956;ABBA01066957;ABBA01066958;ABBA01066959;ABBA01066960;ABBA01066961;ABBA01066962;ABBA01066963;ABBA01066964;ABBA01066965;ABBA01066966;ABBA01066967;AF270491;AK001547;AK022807;AK022918;AK123763;AK222708;AK293570;AK315485;AL355606;AMYH01022495;BC004411;BI770655;BP376634;CH471132;CX782941;DA037517;NG_021200;NM_001178032;NM_001178033;NM_001243804;NM_018684;NR_045044 AAF75787;AAH04411;ADZ16079;BAA86480;BAB14252;BAB14308;BAD96428;BAG37869;BAG53957;BAG57041;EAX05408;EAX05409;NP_001171503;NP_001171504;NP_001230733;NP_061154;Q9NQZ6 Hs.28249 1776742;2122187;5093222 A009J37;G32592;UniSTS:14125 HCA127;KIAA1166;WRWF;WWS OTTHUMP00000023432;OTTHUMP00000023433;hepatocellular carcinoma-associated antigen 127;zinc finger C4H2 domain-containing protein APPROVED protein-coding 24931 06584 314580 REVIEWED 1346047 ZCCHC13 zinc finger, CCHC domain containing 13 This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 3. However, the CDS of this intronless gene remains relatively intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. The encoded protein contains six CCHC-type zinc fingers, and is thus thought to function as a transcription factor. [provided by RefSeq, May 2010] X X X q13.2 73807493 73808337 + 73440750 73441594 + 73524025 73524869 + 1580863;6480464 16713569;15489334;12477932;12045143;15961456;18312684 389874 Q8WW36 ABBA01059582;AC004386;AMYH01022613;BC021176;BX109166;CH471104;HC044691;NG_021228;NM_203303 AAH21176;ABZ92476;ACE86623;ACE87304;CBH30675;EAW98646;EAW98647;NP_976048;Q8WW36 Hs.157231 Cnbp2;ZNF9L OTTHUMP00000023572;cellular nucleic acid binding protein-like;zinc finger CCHC domain-containing protein 13 APPROVED protein-coding ENSG00000187969 31749 10050 REVIEWED 1603494 ZCCHC16 zinc finger, CCHC domain containing 16 X X X q23 111805763 112184591 + 111212909 111587129 + 111326253 111700473 + 18029348;19260141;16093683;15716091;14702039;12477932 340595 Q6ZR62 ABBA01043174;ABBA01043175;ABBA01043176;ABBA01043177;ABBA01043178;ABBA01043179;ABBA01043180;ABBA01043181;ABBA01043182;ABBA01043183;ABBA01043184;ABBA01043185;ABBA01043186;ABBA01043187;ABBA01043188;ABBA01043189;ABBA01043190;ABBA01043191;ABBA01043192;ABBA01043193;ABBA01043194;ABBA01043195;ABBA01043196;ABBA01043197;ABBA01043198;ABBA01043199;ABBA01043200;ABBA01043201;ABBA01043202;ABBA01043203;ABBA01043204;ABBA01043205;ABBA01043206;ABBA01043207;ABBA01043208;ABBA01043209;ABBA01043210;ABBA01043211;ABBA01043212;ABBA01043213;ABBA01043214;ABBA01043215;ABBA01043216;ABBA01043217;ABBA01043218;ABBA01043219;ABBA01043220;ABBA01043221;ABBA01043222;ABBA01043223;ABBA01043224;ABBA01043225;ABBA01043226;AK128465;AL031176;AL031223;AL031388;AL392112;AL929583;AMYH01022843;AMYH01022844;AMYH01022845;AMYH01022846;BC137430;BC137433;BX088563;BX119929;NM_001004308 AAI37431;AAI37434;BAC87453;NP_001004308;Q6ZR62 Hs.368140 1337304;1340778;1645442;1650926;1667133;1691540;1691556;1727799;1775885;1787414;1852436;1856781;2117114;2117116;2154572;2157454;2162889;2169301;2181395;2183895;7187401 A006C05;AL008893;AL021629;AL031553;AL031567;AL032556;AL032613;DXS1059;DXS7299;DXS7360;DXS7369;DXS7801;DXS8021;DXS8375;G20691;G63165;RH47718;SHGC-81698;WI-10731;WI-18604 FLJ46608;Mar4;Mart4 mammalian retrotransposon-derived protein 4;zinc finger CCHC domain-containing protein 16 protein-coding 25214 17003 VALIDATED 1320865 ZCCHC11 zinc finger, CCHC domain containing 11 ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011] 1 1 1 p32.3 51175645 51305459 - 52661535 52791331 - 52888947 53018762 - 6480464 21145461;16643855;16710414;15489334;14702039;12477932;12239557;8724849;19913121;20628086;18029348;16344560;18172165;19701194;19703396;20379614;23063654;22006926;21890473;21906983;19322201;22898984 23318 E9PJN7;E9PKX1;E9PKY2;E9PQS7;E9PRG2;H0YCX5;H0YDJ1;H0YDZ6;H0YEE8;H0YEY0;H0YF28;Q5TAX3 ABBA01074769;ABBA01074770;ABBA01074771;ABBA01074772;ABBA01074773;ABBA01074774;AK025698;AK095733;AK124868;AK307579;AK308427;AL138849;AL591167;AMYH01000619;AMYH01000620;AMYH01000621;BC012047;BC018753;BC035820;BC048301;BC131734;BX439159;BX648248;BX648783;BX649065;CH471059;D83776;DA748708;NM_001009881;NM_015269;R60512 AAI31735;BAA12105;EAX06778;EAX06780;NP_001009881;NP_056084;Q5TAX3 Hs.655407 1671797;1720403;1770307;2115812;2128831;2173373;2218656;5015961;5022322;5022578;5037552 AL009951;D11S2560;D15S1477;D1S1423;D8S2279;G16320;G59004;RH25404;SHGC-35033;SHGC-74827;ZCCHC11__4928 DKFZp779C1943;FLJ42878;PAPD3;TUT4 OTTHUMP00000009913;OTTHUMP00000231835;OTTHUMP00000231840;OTTHUMP00000231841;PAP associated domain containing 3;TUTase 4;terminal uridylyltransferase 4;zinc finger CCHC domain-containing protein 11 APPROVED protein-coding ENSG00000134744 28981 15700 613692 VALIDATED 1314625 ZCCHC24 zinc finger, CCHC domain containing 24 10 10 10 q22.3 74428216 74491539 - 80812087 80875389 - 81142081 81205383 - 737633;6480464 12477932 17081983;15489334;15164054;14702039;16385451;20379614;21103663 219654 Q5W133;Q8N2G6 ABBA01020210;AK024784;AK075279;AK293361;AK303734;AK308876;AL049949;AL133481;AMYH01002859;BC016959;BC028617;BC032450;BC039249;BC053564;BX648607;CH471083;CQ783407;NM_153367 AAH28617;AAH39249;AAH53564;ADZ15987;BAC11516;BAG56877;BAG64708;CAF86612;EAW54649;EAW54650;NP_699198;Q8N2G6 Hs.523080 1335142;1649935;1701056;1730986;1739377;2118420;2163677;2172236;2181668 A004Y13;A006U24;D10S1550E;D10S1777;D10S314;RH104155;STS-AA040726;STS-Z41445;WI-12518 C10orf56;FLJ90798 OTTHUMP00000019923;OTTHUMP00000019924;zinc finger CCHC domain-containing protein 24 protein-coding ENSG00000165424 26911 08299 VALIDATED 1604815 ZCCHC17 zinc finger, CCHC domain containing 17 1 1 1 p35.2 30026341 30094350 + 31542429 31610367 + 31769842 31837780 + 6480464 16710414;16189514;15489334;14702039;12893261;12477932;12202495;11042152;21832049;21078624;19471022;23455491 51538 B4DY38;E7EPF0;Q9NP64 ABBA01023469;AF151077;AF151085;AF247661;AK001929;AK022506;AK024049;AK302248;AK302343;AK307478;AL451070;AMYH01000456;BC000685;BC007446;BC050609;CH471059;NM_016505 AAF36163;AAF36171;AAF72518;AAH00685;AAH07446;AAH50609;ABM84172;ABM87574;BAA91984;BAB14066;BAB14799;BAG63600;BAG63671;EAX07620;EAX07621;EAX07622;EAX07623;EAX07624;EAX07625;NP_057589;Q9NP64 Hs.524094 1674563;1733100;1756193 D1S1430;SHGC-143051;SHGC-74490 HSPC251;PS1D;RP11-266K22.1;pNO40 OTTHUMP00000003890;OTTHUMP00000003891;nucleolar protein 40;nucleolar protein of 40 kDa;pnn-interacting nucleolar protein;putative S1 RNA binding domain protein;putative S1 RNA-binding domain protein;zinc finger CCHC domain-containing protein 17 protein-coding ENSG00000121766 30246 15189 PROVISIONAL 1343061 ZCCHC2 zinc finger, CCHC domain containing 2 18 18 18 q21.33 56910014 56965120 + 58357894 58396798 + 60190658 60245818 + 1580863;6480464 11256614;17081983;16381901;15489336;14702039;12975309;12477932;11230166;11214970;11076863;10737800;8889548;21890473;23022100 54877 B2RPG6;K7EKB8;K7ERQ9;K7ESN2;Q9BRD4;Q9C0B9 AA903206;AB051531;ABBA01056195;AC064801;AK000288;AK098132;AMYH01009048;BC006340;BC137435;BI023990;BU675299;BX485381;CD365705;CH471096;DN997998;NM_017742 AAH06340;AAI37436;BAA91057;BAB21835;BAG53581;CAL38351;EAW63126;EAW63127;EAW63128;NP_060212;Q9C0B9 Hs.114191;Hs.714637 1655901;1682317;1731733;2121514;2143140;2160640;5093806 A009X09;D18S507;G32935;RH70477;RH91360;SHGC-33768;STS-N54297 C18orf49;DKFZp451A185;FLJ20281;KIAA1744;MGC13269 zinc finger CCHC domain-containing protein 2 protein-coding ENSG00000141664 22916 11696 VALIDATED 1346934 ZCCHC5 zinc finger, CCHC domain containing 5 This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [provided by RefSeq, Nov 2009] X X X q21.1 78152142 78155399 - 77798222 77801481 - 77911566 77914825 - 1580863;6480464 16093683;15772651;15716091;14702039;12477932 203430 Q8N8U3 ABBA01030126;AI091777;AK096184;AL662885;AMYH01022637;BC136548;BC136549;CH471104;NG_015973;NM_152694 AAI36549;AAI36550;BAC04719;EAW98597;NP_689907;Q8N8U3 Hs.134873 5493069;5493731 UniSTS:484135;UniSTS:494432 FLJ38865;Mar3;Mart3;ZHC5 OTTHUMP00000023597;mammalian retrotransposon-derived 3;zinc finger CCHC domain-containing protein 5 APPROVED protein-coding ENSG00000179300 22997 06756 REVIEWED 1321384 ZCCHC7 zinc finger, CCHC domain containing 7 9 9 9 p13.2 37053823 37291368 + 37110469 37348146 + 37120469 37358146 + 737633;1580863;6480464 12477932 15489334;15342556;15231748;15164053;14702039;19586940;18029348;21878619;21906983;19322201 84186 B4E024;Q05DN1;Q8TBK8 ABBA01050399;ABBA01050400;ABBA01050401;ABBA01050402;ABBA01050403;ABBA01050404;ABBA01050405;ABBA01050406;ABBA01050407;AF161349;AI458621;AK026264;AK074608;AK303193;AK315128;AL158155;AL358118;AL512604;AMYH01019354;AMYH01019355;AMYH01019356;AMYH01019357;BC005990;BC022434;BC034022;BC036940;BP246540;CH471071;NM_032226 AAF28909;AAH05990;AAH22434;AAH36940;ADR82669;BAB15418;BAC11087;BAG37581;BAG64286;EAW58288;EAW58289;EAW58290;EAW58291;NP_115602;Q8N3Z6 Hs.654700 1299940;1644259;1686748;1713581;1715857;1738259;1738269;2143430;2152309;2164445;2164723;2171930;5093776 A008X03;A009W22;BCD1429;D9S1219;D9S1225;D9S1874;D9S786;G32916;RH119623;RH120286;RH16516;RH45215;RH46563 AIR1;FLJ22611;HSPC086;RP11-397D12.1 OTTHUMP00000021383;zinc finger CCHC domain-containing protein 7 protein-coding ENSG00000147905 26209 15703 VALIDATED 1352502 ZCCHC3 zinc finger, CCHC domain containing 3 20 20 20 p13-p12.2 373047 375805 + 226204 228965 + 278204 280965 + 1580863;6480464 21145461;15592455;15489334;12477932;11780052;21139048;17370265;22586326;19322201;21628590;22797925 85364 Q3B7J3;Q9NUD5 ABBA01053745;AK025768;AL034548;AMYH01011652;BC020460;BC036469;BC069238;BC107584;CH471133;NM_033089 AAH69238;AAI07585;EAX10684;NP_149080;Q9NUD5 Hs.28608;Hs.603608 1645681;1703230;1770226;1773842;2132265 HUMHM02E01;SGC31957;SGC34218;WI-15102;WIAF-1720 C20orf99;MGC104290 OTTHUMP00000029913;zinc finger CCHC domain-containing protein 3 protein-coding ENSG00000177764 16230 15701 VALIDATED 1344359 ZCCHC6 zinc finger, CCHC domain containing 6 9 9 9 q21 59472766 59539516 - 88092468 88159189 - 88902648 88969402 - 737633;6480464 12477932 16381901;15489336;15489334;15164053;14702039;11230166;11214970;11076863;17353264;18172165;8889548;22586326;21139048;20881960;21832049;22939629;23063654;22505724;22898984 79670 Q5VYS9;Q5VYT0;Q96KX5;Q96N57 AB051498;ABBA01016309;ABBA01016310;AK023471;AK055546;AK055948;AK058021;AL137849;AL353678;AL832026;AL832193;AL832965;AL832988;AMYH01021475;BC015897;BC016387;BC032456;BC111003;BC144523;BU734789;BX641077;CA773862;CH471089;CR933643;CR933644;CR936608;DC377509;HI574282;NM_001185059;NM_001185074;NM_024617 AAH16387;AAH32456;BAB14584;BAB21802;BAB70951;BAB71052;CAE46038;CAH56214;CAH56219;CAI45944;CAI45945;CAI56753;CAL37899;CAL38400;CBX47630;EAW62714;EAW62715;EAW62716;EAW62717;EAW62718;NP_001171988;NP_001172003;NP_078893;Q5VYS8 Hs.597057 1656871;1698418;1725331;1850390;2166137;2168325;5093784 A009W34;G32922;RH102753;RH118983;RH41959;STS-D20387;STS-F09563 DKFZp666B142;DKFZp686C11112;DKFZp686F119;DKFZp686I1269;PAPD6 OTTHUMP00000021593;OTTHUMP00000021596;PAP associated domain containing 6;TUTase 7;terminal uridylyltransferase 7;zinc finger CCHC domain-containing protein 6 protein-coding ENSG00000083223 25817 11697 VALIDATED 1316648 ZCCHC9 zinc finger, CCHC domain containing 9 5 5 5 q14.1 76501670 76513252 + 80633178 80644872 + 80597402 80608966 + 737633;1580863;6480464 12477932 15635413;15146197;15489334;16712791;19389623 84240 Q8N567 ABBA01062054;AC008411;AI961614;AK314160;AL512712;AMYH01015445;BC014841;BC022799;BC032736;BG776648;CB126982;CH471084;CN261947;NM_001131035;NM_001131036;NM_032280 AAH32736;BAG36844;CAC21654;EAW95870;EAW95871;EAW95872;EAW95873;NP_001124507;NP_001124508;NP_115656;Q8N567 Hs.15536 1654597;1673273;5016596;5037552;5494067 D8S2279;DKFZp761J139;G09206;GDB:631802;WI-20867 DKFZp761J139;PPP1R41 OTTHUMP00000147543;OTTHUMP00000147544;OTTHUMP00000222348;OTTHUMP00000222349;protein phosphatase 1, regulatory subunit 41;zinc finger CCHC domain-containing protein 9 protein-coding ENSG00000131732 25424 15704 VALIDATED 1322864 ZCCHC4 zinc finger, CCHC domain containing 4 4 4 4 p15.2 25763095 25820709 + 24923494 24981103 + 25314396 25372005 + 1580863;6480464 17081983;15489334;15225602;14702039;12477932;11042152 29063 H0Y8V8;Q9H5U6 ABBA01032695;ABBA01032696;AC108218;AF161537;AK026677;AK299211;AK309675;AMYH01014068;AY629351;BC016914;BC157834;BC171821;BG719159;CH471069;NM_024936 AAF29024;AAH16914;AAI57835;AAI71821;AAV41218;BAB15524;BAG61250;EAW92837;NP_079212;Q9H5U6 Hs.278945 1646232;1650451;1749965;1769994;5015619;5024039;5037552 D11S3114;D16S325;D4S2705;D8S2279;G33686;SHGC-111674;STS-R91167 HSPC052;MGC21108 DHHC domain-containing zinc finger protein;OTTHUMP00000218482;OTTHUMP00000218484;zinc finger CCHC domain-containing protein 4 protein-coding ENSG00000168228 22917 611792 VALIDATED 1351702 ZDHHC10 zinc finger, DHHC domain containing 10 93950 15978 1605970 ZDBF2 zinc finger, DBF-type containing 2 2 2 2 q33.3 200901474 200941000 + 206847768 206887393 + 207139523 207179148 + 6480464 14702039;10997877;19200453;23080069;21890473;22688191 57683 N0DVB2;Q9HCK1 AB046791;AB775780;AB775781;ABBA01062655;ABBA01062656;AC017081;AK024339;AK127271;AK130893;AMYH01011438;NM_020923 BAB13397;BAC85454;BAN18187;BAN18188;NP_065974;Q9HCK1 Hs.110489 1693926;5022651;5037552 D11S2921;D8S2279;G42654 FLJ45338;KIAA1571 DBF4-type zinc finger-containing protein 2;OTTHUMP00000206348;zinc finger DBF-type containing 2 vesion 1;zinc finger DBF-type containing 2 vesion 2 protein-coding ENSG00000204186 29313 VALIDATED 1602781 ZDHHC11B zinc finger, DHHC-type containing 11B 5 5 p15.33 769818 820066 - 692724 733882 - 15372022 653082 F5H7P5;P0C7U3 ABBA01034239;ABBA01034240;ABBA01034241;ABBA01034242;ABBA01034243;ABBA01034244;AC026740;XM_003118532;XM_003403780;XR_158789;XR_171501 P0C7U3;XP_003118580;XP_003403828 Hs.654874 1689552;1740451;2162603 A008P27;D5S2254E;RH91350 DHHC-11B OTTHUMP00000239654;Probable palmitoyltransferase ZDHHC11B;Zinc finger DHHC domain-containing protein 11B;zinc finger, DHHC-type containing 11B protein-coding 32962 MODEL 1320291 ZCCHC8 zinc finger, CCHC domain containing 8 12 12 12 q24.31 122549115 122577860 - 121523388 121551471 - 122956146 122985543 - 737633;6480464 12477932 17525332;16964243;16263084;15489334;15302935;15231748;14702039;11991638;21145461;21832049;22939629;18029348;19156129;21628590;22586326;21139048;21890473 55596 F5GX80;F5GXQ6;F5GYI9;F5H6J5;F5H803;Q6NZY4 AA447641;ABBA01060462;ABBA01060463;ABBA01060464;ABBA01060465;AC127002;AK026831;AK027702;AK074638;AK291174;AK307318;AL157433;AMYH01004827;AMYH01004828;BC017704;BC065918;BE048845;CH471054;DB456426;NM_017612 AAH17704;AAH65918;BAB55308;BAC11105;BAF83863;CAB75657;EAW98325;EAW98326;NP_060082;Q6NZY4 Hs.37706 1677939;2121618;2183057;5014740;5015619;5015961;5037552 D11S3114;D15S1477;D17S610;D8S2279;RH44605;RH92423;STS-H75490 DKFZp434E2220 zinc finger CCHC domain-containing protein 8 protein-coding 25265 11698 VALIDATED 1347606 ZCWPW2 zinc finger, CW type with PWWP domain 2 3 3 3 p24.1 28368439 28503337 + 28406993 28541637 + 28431987 28566633 + 6480464 14607086;12600744;12477932 152098 C9JFK0;H7C087;H7C0K4;H7C0L9;Q504Y3 AB087877;ABBA01024976;ABBA01024977;AC093142;AJ519236;AMYH01013048;AMYH01013049;AMYH01013050;AMYH01013051;BC065764;BC094696;CH471055;NM_001040432 AAH94696;BAC55088;CAD60297;EAW64399;NP_001035522;Q504Y3 Hs.510635;Hs.539824;Hs.659030 1737919;1850187 D11S3526;D3S2350 ZCW2 OTTHUMP00000208511;OTTHUMP00000208512;zinc finger CW-type PWWP domain protein 2 protein-coding ENSG00000206559 23574 PROVISIONAL 1604568 ZCRB1 zinc finger CCHC-type and RNA binding motif 1 Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008] 12 12 12 q12 41507709 41521753 - 40992155 41006199 - 42705888 42719932 - 6480464 15146077;17081983;16959469;15489334;12477932;22939629;21139048;22362731;19322201 85437 F8VXY6;G3V1V1;Q8TBF4 AB062361;ABBA01031404;AC079684;AK308244;AMYH01004405;BC005099;BC010177;BC022543;BI666919;BK005200;CH471111;NM_033114 AAH05099;AAH10177;AAH22543;ABM83017;ABM86210;BAB56132;DAA05498;EAW57842;EAW57843;EAW57844;NP_149105;Q8TBF4 Hs.496279 1695342;2176644;5127713 SHGC-64084;SHGC-64773;STS-N26725 MADP-1;MADP1;MGC26805;RBM36;SNRNP31;ZCCHC19 OTTHUMP00000240972;OTTHUMP00000240973;U11/U12 small nuclear ribonucleoprotein 31 kDa protein;U11/U12 snRNP 31 kDa protein;U11/U12 snRNP 31K;U11/U12-31K;zinc finger CCHC-type and RNA-binding motif-containing protein 1 APPROVED protein-coding ENSG00000139168 29620 14344 610750 REVIEWED 1313418 ZCWPW1 zinc finger, CW type with PWWP domain 1 7 7 7 q22.1 94728294 94756101 - 99836431 99864238 - 99998495 100026431 - 1580863;6480464 15489334;14702039;14607086;12477932;11230166;20826339 55063 C9JUV7;H7C4V9;Q9H0M4 AACC02000084;ABBA01013213;ABBA01013214;ABBA01013215;ABBA01013216;ABBA01013217;AC005071;AC092849;AK000919;AK093038;AK299989;AK300745;AK302108;AK316553;AL136735;AMYH01017733;AMYH01017734;BC002725;CH236956;CH471091;DB447154;DC413605;NM_001258008;NM_017984 AAH02725;BAA91424;BAC04028;BAG61810;BAG62414;BAG63489;BAG65631;CAB66669;EAW76538;EAW76539;EAW76540;EAW76541;NP_001244937;NP_060454;Q9H0M4 Hs.105191;Hs.742544 1688534;1700950;1769184;2110053;2174735 D7S1765;D7S2930;RH104102;RH94035;ZCWPW1_9870 DKFZp434N0510;FLJ10057;ZCW1 OTTHUMP00000215760;OTTHUMP00000215761;OTTHUMP00000215762;zinc finger CW-type PWWP domain protein 1;zinc finger, CW-type with PWWP domain 1 protein-coding ENSG00000078487 23486 15706 VALIDATED 1348828 ZDHHC1 zinc finger, DHHC-type containing 1 16 16 16 q22.1 51936522 51958539 - 65985829 66007878 - 67428322 67450339 - 1580863;6480464 10395086;15489334;12477932;20549515;21906983 29800 I3L202;Q8WTX9 ABBA01025435;ABBA01025436;AC009061;AK307155;AMYH01007746;BC021908;BC045169;CA432496;CH471092;NM_013304;U90653 AAB86591;AAH21908;EAW83132;EAW83133;NP_037436;Q8WTX9 Hs.624541;Hs.658333 C16orf1;HSU90653;ZNF377 DHHC domain-containing cysteine-rich protein 1;DHHC-1;DHHC-domain-containing cysteine-rich protein;OTTHUMP00000174819;probable palmitoyltransferase ZDHHC1;zinc finger DHHC domain-containing protein 1;zinc finger protein 377;zinc finger, DHHC domain containing 1 protein-coding ENSG00000159714 17916 15707 VALIDATED 1343630 ZDHHC11 zinc finger, DHHC-type containing 11 5 5 p15.33 848722 904101 - 795720 851101 - 1580863;6480464 18025801;15489334;14702039;12975309;12477932;20379614 79844 D6RE92;H0Y9D0;Q6UWR9;Q9H8X9 ABBA01034227;ABBA01034228;ABBA01034229;ABBA01034230;ABBA01034231;ABBA01034232;ABBA01034233;ABBA01034234;ABBA01034235;ABBA01034236;AC010427;AC026740;AC122719;AF267859;AK023215;AK024233;AMYH01014847;AMYH01014848;AY358673;BC032000;CH471304;NM_024786 AAG44728;AAH32000;AAQ89036;BAB14468;EAW52307;NP_079062;Q9H8X9 Hs.732788 1689552;1740451;2162603 A008P27;D5S2254E;RH91350 FLJ13153;ZNF399 DHHC-11;OTTHUMP00000115368;probable palmitoyltransferase ZDHHC11;zinc finger DHHC domain-containing protein 11;zinc finger protein 399;zinc finger, DHHC domain containing 11 protein-coding ENSG00000188818 19158 15708 VALIDATED 1315298 ZDHHC12 zinc finger, DHHC-type containing 12 9 9 9 q34.11 102133934 102137194 - 130522969 130526229 - 131483148 131486408 - 1580863;6480464 16303743;15489334;15164053;14702039;12477932;17207965;20467438;21988832;23568457;21139048 84885 Q5T266;Q5T269;Q96GR4 ABBA01043898;ABBA01043899;AK027430;AK075332;AK092843;AK315746;AL441992;AMYH01021751;BC009280;BC048251;BU506687;CH471090;NM_032799 AAH09280;AAH48251;ADQ33049;BAB55104;BAC11553;BAG38100;EAW87826;EAW87827;EAW87828;NP_116188;Q96GR4 Hs.133122 1655580;2109665 PKN3_9611;STS-N29855 FLJ14524;MGC13153;MGC54050;ZNF400 DHHC-12;OTTHUMP00000022288;OTTHUMP00000022289;OTTHUMP00000022290;OTTHUMP00000022291;OTTHUMP00000022292;probable palmitoyltransferase ZDHHC12;zinc finger DHHC domain-containing protein 12;zinc finger protein 400;zinc finger, DHHC domain containing 12 protein-coding ENSG00000160446 19159 15709 VALIDATED 1352800 ZDHHC14 zinc finger, DHHC-type containing 14 6 6 6 q25.3 158441700 158739011 + 157722545 158014965 + 157802557 158094977 + 1580863;6480464 15489334;14702039;14574404;12477932;22041458;19322201 79683 H0Y2Y4;H0YAX0;Q8IZN3 ABBA01021115;ABBA01021116;ABBA01021117;ABBA01021118;AF542388;AF542389;AJ420552;AK024637;AK092380;AK124573;AK128773;AK309408;AL117344;AL133510;AL450328;AMYH01016776;AMYH01016777;BC008978;BC029881;BC056399;BC125072;BC125073;CH471051;NM_024630;NM_153746 AAH56399;AAI25073;AAI25074;AAN47142;AAN47143;BAB14941;BAG52543;BAG54053;EAW47670;EAW47671;EAW47672;EAW47673;EAW47674;EAW47675;NP_078906;NP_714968;Q8IZN3 Hs.187459 1339786;1340433;1651424;1653275;1761209;1763655;1779306;2124289;2129113;2129483;2155406;2158328;2164489;2170799;7184910;7185612 D6S1007;D6S1983;D6S2433;D6S415;RH36302;RH46611;RH69780;RH70412;SHGC-145220;SHGC-147341;SHGC-153308;SHGC-34875;SHGC-58189;WI-14340 FLJ20984;NEW1CP DHHC-14;NEW1 domain containing protein;NEW1 domain-containing protein;OTTHUMP00000017483;OTTHUMP00000017484;OTTHUMP00000017486;probable palmitoyltransferase ZDHHC14;zinc finger DHHC domain-containing protein 14 protein-coding ENSG00000175048 20341 15711 PROVISIONAL 1320234 ZDHHC13 zinc finger, DHHC-type containing 13 11 11 11 p15.1 19271160 19330447 + 19095268 19154543 + 19138692 19197967 + 1580863;6480464 12761501;18794299;15489334;14702039;12477932;12393793;18029348;21139048;21890473;21906983;22505724 54503 Q8IUH4 AB024495;AB097014;AB097027;ABBA01061038;AC009652;AK001714;AK001831;AK123539;AK291348;AL833714;AMYH01003431;BC036020;BC050690;BC056152;BX648156;CH471064;NM_001001483;NM_019028 AAH36020;AAH50690;AAH56152;BAA91856;BAA91930;BAC22090;BAC77367;BAC77380;BAF84037;EAW68357;EAW68358;NP_001001483;NP_061901;Q8IUH4 Hs.188569 1707416;1854996;2218658 SHGC-84498;WI-17833;ZDHHC13__4933 FLJ10852;FLJ10941;HIP14L;HIP3RP;MGC64994 DHHC-13;HIP14-like;HIP14-related protein;OTTHUMP00000231890;OTTHUMP00000231891;huntingtin interacting protein HIP3RP;huntingtin-interacting protein 14-related protein;huntingtin-interacting protein HIP3RP;palmitoyltransferase ZDHHC13;probable palmitoyltransferase ZDHHC13;putative MAPK-activating protein PM03;putative NF-kappa-B-activating protein 209;zinc finger DHHC domain-containing protein 13;zinc finger, DHHC domain containing 13 protein-coding ENSG00000177054 18413 15710 612815 VALIDATED 1345155 ZDHHC15 zinc finger, DHHC-type containing 15 The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] X X X q13.3 74871681 75026653 - 74508786 74659600 - 74588262 74743337 - 1580863;6480464;7240710 16344560;15915161;15772651;15489334;14702039;12975309;12477932;22318606 158866 B3KY34;B7Z8U0;Q96MV8 ABBA01059439;ABBA01059440;ABBA01059441;ABBA01059442;ABBA01059443;ABBA01059444;ABBA01059445;ABBA01059446;ABBA01059447;ABBA01059448;ABBA01059449;ABBA01059450;ABBA01059451;ABBA01059452;ABBA01059453;ABBA01059454;ABBA01059455;ABBA01059456;ABBA01059457;ABBA01059458;ABBA01059459;ABBA01059460;ABBA01059461;AC020717;AK056374;AK122885;AK123754;AK128587;AK303896;AL137013;AL391055;AMYH01022615;AMYH01022616;AMYH01022617;AMYH01022618;AY358786;BC103980;BC103981;BC103982;BQ028106;CH471104;DA439027;DC366734;NG_012974;NM_001146256;NM_001146257;NM_144969 AAI03981;AAI03982;AAI03983;AAQ89146;BAB71168;BAG53779;BAG54696;BAH14076;EAW98627;EAW98628;EAW98629;NP_001139728;NP_001139729;NP_659406;Q96MV8 Hs.253211 1754077;1754581;2173763;5015961;5037552;5111515 D15S1477;D8S2279;SHGC-12900;SHGC-132114;SHGC-132866;SHGC-53767 FLJ31812;MGC119974;MGC119975;MGC119976;MRX91 DHHC-15;OTTHUMP00000023583;palmitoyltransferase ZDHHC15;zinc finger DHHC domain-containing protein 15 APPROVED protein-coding ENSG00000102383 20342 06758 300576;300577 REVIEWED 1604262 ZDHHC16 zinc finger, DHHC-type containing 16 10 10 10 q24.1 92943986 92955183 + 99195920 99207117 + 99205930 99217127 + 6480464 17123647;15489334;15164054;12975309;12477932;12021275;16385451;17207965 84287 B1AMT9;B1AMU0;B1AMU5;H0Y536;H0Y6E9;Q9BSV3 ABBA01021803;AF258563;AJ294945;AK074427;AK297962;AL355490;AMYH01002977;AY359080;BC004535;BC008074;BC011749;BC012830;BC033157;BC050652;BU500243;CH471066;NM_032327;NM_198043;NM_198044;NM_198045;NM_198046 AAG23766;AAH04535;AAH08074;AAH11749;AAH12830;AAH33157;AAQ89439;ADQ32335;BAG60274;CAC82556;EAW49929;EAW49930;EAW49931;EAW49932;EAW49933;EAW49934;EAW49935;NP_115703;NP_932160;NP_932161;NP_932162;NP_932163;Q969W1 Hs.76662 1662152;1689747;2164321;2172744;5015881;5020988 A002I07;D22S958;GDB:335751;RH11297;RH93293;SHGC-31924 APH2;MGC2993 Abl-philin 2;DHHC-16;OTTHUMP00000020191;OTTHUMP00000020192;OTTHUMP00000020193;OTTHUMP00000020194;OTTHUMP00000020195;OTTHUMP00000020197;OTTHUMP00000020198;OTTHUMP00000020199;OTTHUMP00000020200;probable palmitoyltransferase ZDHHC16;zinc finger DHHC domain-containing protein 16;zinc finger, DHHC domain containing 16 protein-coding ENSG00000171307 20714 15712 VALIDATED 6481188 ZDHHC20-AS1 ZDHHC20 antisense RNA 1 100874230 AL136219 APPROVED miscrna 39899 6480958 ZDHHC20-IT1 ZDHHC20 intronic transcript 1 (non-protein coding) 100874367 AL136219 miscrna 39900 5134875 ZDHHC20P1 zinc finger, DHHC-type containing 20 pseudogene 1 6 p21.3 29675918 29676324 - 100048907 ABBA01038036;AL645939;AL669813;AL844851;AMYH01016196;BX005428;BX927250;CR388408;CR759790;NG_029279 pseudo 33456 INFERRED 5134855 ZDHHC20P2 zinc finger, DHHC-type containing 20 pseudogene 2 6 p21.3 31348185 31348616 + 20205591 100048908 ABBA01038073;AL669854;AL671883;AL845443;AMYH01016216;BX119958;CR318637;NG_029280 pseudo 33457 INFERRED 6481063 ZDHHC20P3 zinc finger, DHHC-type containing 20 pseudogene 3 11 74939359 74939697 - 100874348 ABBA01017472;AMYH01003814;AP001972;NG_032357 pseudo 39775 INFERRED 5130599 ZDHHC20P4 zinc finger, DHHC-type containing 20 pseudogene 4 13 13 13 q21.33 50461410 50462793 + 68457191 68458259 + 69559075 69560458 + 730239 ABBA01050299;AL359394;AMYH01005192;NG_011414 pseudo 39776 INFERRED 1351838 ZDHHC17 zinc finger, DHHC-type containing 17 12 12 12 q21.2 76823537 76912998 + 75681985 75771605 + 77157854 77247474 + 6480464 15603740;12761501;18794299;16847693;16344560;15489887;15489334;12477932;12393793;10231032;9700202;20507996;20936779;18029348;19434754;19955568;21705657;21849558;19322201;22649491;22505724 23390 F8VPW2;F8VUG7;F8VX48;H0YHF0;H0YHW0;H0YI74;H0YIK0;H0YIN1;H0YIP7;Q8IUH5 AB023163;AB024494;AB097013;AB097035;ABBA01053537;ABBA01053538;ABBA01053539;ABBA01053540;AC093014;AC124784;AF049612;AF161412;AK292866;AK299089;AMYH01004601;BC030990;BC050324;CH471054;DA227374;NM_015336 AAC26848;AAF28972;AAH30990;AAH50324;BAA76790;BAC22089;BAC77366;BAC77388;BAF85555;BAG61151;EAW97331;EAW97332;EAW97333;EAW97334;EAW97335;NP_056151;Q8IUH5 Hs.4014 1342016;1668610;1668612;1718337;1746235;1749071;2116029;2185000;5021110;5038569 D12S1709;D12S1912;G31144;G64414;RH11174;RH122940;SGC44319;SHGC-110735;SHGC-44319;WI-19323 HIP14;HIP3;HSPC294;HYPH;KIAA0946 DHHC-17;HIP-14;HIP-3;Huntingtin interacting protein H;OTTHUMP00000242466;huntingtin interacting protein 14;huntingtin interacting protein 3;huntingtin yeast partner H;huntingtin-interacting protein 14;huntingtin-interacting protein 3;huntingtin-interacting protein H;palmitoyltransferase ZDHHC17;putative MAPK-activating protein PM11;putative NF-kappa-B-activating protein 205;zinc finger DHHC domain-containing protein 17;zinc finger, DHHC domain containing 17 protein-coding ENSG00000186908 18412 09697 607799 VALIDATED 1346417 ZDHHC19 zinc finger, DHHC-type containing 19 3 3 3 q29 194504929 194518767 - 197408720 197422697 - 195924323 195938300 - 1580863;6480464 15489334;14702039;12477932;21160409;20074548 131540 B3KVI1;Q8WVZ1 ABBA01033721;ABBA01033722;ABBA01033723;AC069257;AK122907;AMYH01013793;BC022078;BC034801;BG721568;BU929650;CH471191;HC044725;NM_001039617 AAH22078;BAG53793;CBH30692;EAW53666;EAW53667;EAW53668;EAW53669;NP_001034706;Q8WVZ1 Hs.111591 1685275 RH92567 DHHC19;MGC33345 DHHC-19;OTTHUMP00000208528;OTTHUMP00000208529;OTTHUMP00000208596;probable palmitoyltransferase ZDHHC19;zinc finger DHHC domain-containing protein 19;zinc finger, DHHC domain containing 19 protein-coding ENSG00000163958 20713 15714 VALIDATED 1319625 ZDHHC18 zinc finger, DHHC-type containing 18 1 1 1 p36.11 25550302 25579306 + 27025788 27054795 + 27153201 27182211 + 1580863;6480464 16710414;15489334;14702039;12477932 84243 B4DQ84;E9PJS3;H0YEN1;Q9NUE0 ABBA01034929;ABBA01034930;ABBA01034931;ABBA01034932;AK056427;AK298683;AL034380;AL512765;AMYH01000412;AMYH01000413;AMYH01000414;BC066776;CH471059;NM_032283 AAH66776;BAG60846;CAC21682;EAX07788;EAX07789;NP_115659;Q9NUE0 Hs.523710 1849541;1849543;2127593;2145990;2148804;5106525 A002B28;AL009289;G19894;G38319;RH12522;SHGC-74485 DHHC-18;DHHC18;DKFZp667O2416 OTTHUMP00000004241;OTTHUMP00000228404;palmitoyltransferase ZDHHC18;zinc finger DHHC domain-containing protein 18 protein-coding ENSG00000204160 20712 15713 VALIDATED 1345232 ZDHHC23 zinc finger, DHHC-type containing 23 3 3 3 q13.31 112075199 112090278 + 115149438 115164519 + 113666748 113681829 + 737633;1580863;6480464 12477932 15489334;15105416;14702039;9110174;8619474;22482804;21832049 254887 B3KXV3;C9JPJ8;E9PAP7;H7C4L2;Q8IYP9 ABBA01061640;AC128687;AF131818;AK022842;AK127025;AK127260;AK127996;AMYH01013398;BC035230;CH471052;NM_173570 AAH35230;BAG54425;BAG54615;EAW79616;EAW79617;EAW79618;EAW79619;EAW79620;NP_775841;Q8IYP9 Hs.21902 1335839;1660949;1687097;1735192;2122736;2162855;2162857 A005A39;D3S2836E;D3S3313;D3S3585;G20226;RH12338;RH93691 MGC42530;NIDD DHHC-23;OTTHUMP00000214912;OTTHUMP00000214913;OTTHUMP00000214914;probable palmitoyltransferase ZDHHC23;zinc finger DHHC domain-containing protein 23 protein-coding ENSG00000184307 28654 15717 VALIDATED 736613 ZDHHC2 zinc finger, DHHC-type containing 2 8 8 8 p22 15979980 16046302 + 17058402 17124612 + 17013836 17080241 + 1580863;6480464 19144824;18508921;18296695;15489334;14702039;12477932;12021275;10918388;21343290;20211142;20379614;21471008;22034844 51201 E5RFZ7;Q9UIJ5 AB023584;ABBA01021585;ABBA01021586;AC079193;AC091050;AK001608;AMYH01018545;BC039253;BC050272;CH471080;HI931683;NM_016353 AAH39253;AAH50272;BAA88923;BAG50948;CBY79708;EAW63824;EAW63825;NP_057437;Q9UIJ5 Hs.744097 1650248;1699746;1744077;1759783;1848512 G32164;GDB:386001;RH103479;RH36493;SHGC-170023 DHHC2;ZNF372 DHHC-2;OTTHUMP00000225183;palmitoyltransferase ZDHHC2;ream;rec;reduced expression associated with metastasis protein;reduced expression in cancer protein;zinc finger DHHC domain-containing protein 2;zinc finger protein 372 protein-coding 18469 15715 VALIDATED 4891558 ZDHHC4P1 zinc finger, DHHC-type containing 4 pseudogene 1 13 13 24565663 24566918 + 43507813 43509068 + 100420920 ABBA01021248;AL137878;AMYH01005077;NG_024919 pseudo 39443 INFERRED 1313969 ZDHHC21 zinc finger, DHHC-type containing 21 9 9 9 p22.3 14544591 14626897 - 14607028 14683474 - 14611069 14693480 - 6480464 15489334;15164053;14702039;12477932;22496122;17207965;19754311;19956733;22031296;22493691;22589738 340481 Q8IVQ6;Q9P0D9 ABBA01065298;ABBA01065299;AF161360;AK026322;AK096860;AK124263;AK127313;AK292960;AL390732;AMYH01019240;AMYH01019241;BC042439;BC042558;CH471071;NM_178566 AAF28920;AAH42558;ADQ32464;BAF85649;EAW58692;EAW58693;NP_848661;Q8IVQ6 Hs.649522;Hs.740511 1672478;1677314;1682686;1688722;1699266;1709190 RH103215;RH80954;RH92721;RH94088;SHGC-85763;STS-N34905 9130404H11Rik;DHHC-21;DHHC21;DNZ1;HSPC097 OTTHUMP00000021060;palmitoyltransferase ZDHHC21;probable palmitoyltransferase ZDHHC21;zinc finger DHHC domain-containing protein 21;zinc finger, DHHC domain containing 21 protein-coding 20750 15716 614605 VALIDATED 1318218 ZDHHC22 zinc finger, DHHC-type containing 22 14 14 14 q24.3 57636210 57646730 - 76667366 76677887 - 77597613 77608134 - 1580863;6480464 16344560;15489334;14702039;12477932;11181995 283576 G3V259;G3V3N3;Q8N966 ABBA01030663;AC007375;AK095612;AK294840;AMYH01005878;BC035881;BC117676;CH471061;DA496626;NM_174976 AAI17677;BAC04590;BAH11901;EAW81271;NP_777636;Q8N966 Hs.525485 2218660 ZDHHC22__4935 C14orf59 DHHC-22;OTTHUMP00000246535;putative palmitoyltransferase ZDHHC22;zinc finger DHHC domain-containing protein 22 protein-coding ENSG00000177108 20106 12655 VALIDATED 1606124 ZDHHC20 zinc finger, DHHC-type containing 20 13 13 13 q12.11 3012184 3095519 - 20848508 20931423 - 21946710 22033508 - 6480464 15489334;15057823;14702039;12477932;8889548;20334580;21139048;21890473;21906983;23000965;23400010 253832 B4DRN8;I6L9D4;Q2TB82;Q5W0Z9 ABBA01068604;ABBA01068605;ABBA01068606;ABBA01068607;AK090979;AK098818;AK295804;AK299354;AL136219;AL833626;AMYH01004957;BC034944;BC036691;BC037336;BC050367;BC067898;BC110517;BG720734;BU685378;CH471075;NM_153251 AAH34944;AAH50367;AAH67898;AAI10518;BAC05422;BAG58622;BAG61350;EAX08307;EAX08308;EAX08309;EAX08310;NP_694983;Q5W0Z9 Hs.564611 1700508;2111594;2168492;5022651;5117897;5125399 D11S2921;D13S1540;GDB:631813;RH103875;RH11201;RH69325 FLJ25952;MGC126005 4933421L13Rik;DHHC-20;DHHC-containing protein 20;OTTHUMP00000018802;probable palmitoyltransferase ZDHHC20;zinc finger DHHC domain-containing protein 20;zinc finger, DHHC domain containing 20 protein-coding 20749 08078 VALIDATED 1602172 ZDHHC24 zinc finger, DHHC-type containing 24 11 11 11 q13.2 63627011 63633947 - 66063311 66070247 - 66306735 66313671 - 6480464 15489334;12975309;12477932;20628086;19913121;21926972 254359 E9PI61;E9PLR9;Q6UX98 ABBA01024074;AK301787;AK310561;AMYH01003735;AP002748;AY358448;BC005015;BC057833;CH471076;NM_207340 AAH05015;AAH57833;AAQ88813;ADZ15618;BAG63243;EAW74545;NP_997223;Q6UX98 Hs.744378 DHHC-24;OTTHUMP00000235141;probable palmitoyltransferase ZDHHC24;zinc finger DHHC domain-containing protein 24;zinc finger, DHHC domain containing 24 protein-coding 27387 17325 PROVISIONAL 1319160 ZDHHC3 zinc finger, DHHC-type containing 3 3 3 3 p21.31 44894716 44955634 - 44941663 44992618 - 44956753 45017674 - 1580863;6480464 19322201;22314500;16713569;16189514;15489334;15231748;12477932;12163046;9110174;8619474;15229235;19955568;19953087;22240897 51304 C9JIA9;C9JNU5;F8W6M3;H0Y6A5;H7C1U6;H7C365;Q9NYG2 AA778122;ABBA01024735;AC098649;AC104165;AF052182;AF247703;AF441791;AK000216;AK127837;AK299782;AL832057;AMYH01013126;AY605661;BC015467;BC020350;BC020424;BC038436;BC101284;BC101285;BC101286;BC101287;BC113070;CH471055;DB636483;NM_001135179;NM_016598 AAF63570;AAH15467;AAL34547;AAV83779;ACE86719;ACE87405;ACT64532;ACT64533;BAG61664;EAW64729;EAW64730;NP_001128651;NP_057682;Q9NYG2 Hs.61430 1652906;1689899;1699246;1739043;1854896;1854898;2112662;2119652;2218662;5014051;5016851;5022200;5493201 A005U27;D3S3243;D3S4221;D3S4426;D8S2278;G20511;L18426;RH103204;RH80031;RH98231;STS-AA027089;UniSTS:484717;ZDHHC3__4936 DHHC-3;DKFZp313D2314;FLJ20209;FLJ45940;GODZ;ZNF373 DHHC-3;DHHC1 protein;Golgi apparatus-specific protein with DHHC zinc finger domain;OTTHUMP00000164123;OTTHUMP00000211255;OTTHUMP00000211257;OTTHUMP00000211300;golgi-specific DHHC Zinc Finger Protein;palmitoyltransferase ZDHHC3;zinc finger DHHC domain-containing protein 3;zinc finger protein 373;zinc finger, DHHC domain containing 3 protein-coding 18470 15718 VALIDATED 1314627 ZDHHC5 zinc finger, DHHC-type containing 5 11 11 11 q12.1 54791959 54825136 + 57192050 57225235 + 57435474 57468659 + 1580863;6480464 11214970;17081983;15489334;14702039;12477932;19801377;22990118;22939629;21820437;21906983 25921 E9PJ97;E9PMA5;H0YEF4;Q9C0B5 AB051535;ABBA01021475;AK023130;AK172807;AL117662;AMYH01003652;AP000662;AY894889;BC026967;BX647707;CB989150;CH471076;NM_015457 AAH26967;AAX73368;ABM83376;ABM86588;BAB14420;BAB21839;BAD18778;CAB56033;EAW73771;EAW73772;EAW73773;NP_056272;Q9C0B5 Hs.27239 1338298;1664831;1720561;2110055;2128825;2128939;2129234 A003A41;D11S1777;D11S2272E;D11S4384;G59234;RH45501;ZDHHC5_9432 DHHC5;DKFZp586K0524;KIAA1748;ZNF375 DHHC-5;OTTHUMP00000235460;OTTHUMP00000235461;membrane-associated DHHC5 zinc finger protein;palmitoyltransferase ZDHHC5;probable palmitoyltransferase ZDHHC5;zinc finger DHHC domain-containing protein 5;zinc finger protein 375;zinc finger, DHHC domain containing 5 protein-coding ENSG00000156599 18472 15720 614586 VALIDATED 1318128 ZDHHC4 zinc finger, DHHC-type containing 4 7 7 7 p22.1 6106568 6118126 - 6584664 6595505 + 6617065 6628610 + 1580863;6480464 15527767;15489334;15146197;14702039;12975309;12690205;12477932;11230166;8889548;8125298;16751776 55146 C9J5I9;Q9NPG8 AACC02000122;AACC02000123;ABBA01056494;ABBA01056495;AC079742;AF201931;AK001341;AK223532;AK308971;AL136674;AMYH01017040;AMYH01017041;AY359090;BC001239;BQ185277;BQ925460;CH236963;CH878731;CN365375;CR533511;CS072288;NM_001134387;NM_001134388;NM_001134389;NM_018106 AAF86867;AAH01239;AAQ89448;ABM82742;ABM85929;BAA91636;BAD97252;CAB66609;CAG38542;CAI93426;EAL23725;EAW55023;EAW55024;EAW55025;EAW55026;EAW55027;NP_001127859;NP_001127860;NP_001127861;NP_060576;Q9NPG8 Hs.5268 1752675;1847113;2117094;2120538;2131161;5113697 A008D23;D7S2646;GDB:4585098;RH93371;SHGC-106502;STS-Z41394 FLJ10479;ZNF374 DHHC-4;OTTHUMP00000025197;OTTHUMP00000115925;OTTHUMP00000115926;OTTHUMP00000115927;OTTHUMP00000200654;probable palmitoyltransferase ZDHHC4;zinc finger DHHC domain-containing protein 4;zinc finger protein 374 protein-coding ENSG00000136247 18471 15719 VALIDATED 1312223 ZDHHC6 zinc finger, DHHC-type containing 6 10 10 10 q25.2 107917581 107934195 - 114180048 114196662 - 114190058 114206672 - 1580863;6480464 15489334;14702039;12477932;16169070;19801377;20379614;8125298;21906983;22745667 64429 Q9H6R6 ABBA01063005;AC022018;AF267740;AK025605;AK026369;AK223086;AK308026;AMYH01003075;BC007213;BC017434;BX647270;CH471066;NM_022494 AAH07213;AAH17434;AAL56663;ADZ15349;BAB15187;BAB15462;BAD96806;EAW49526;EAW49527;EAW49528;EAW49529;EAW49530;EAW49531;NP_071939;Q9H6R6 Hs.196990 1646852;1646854;1736124;2149266 A006C33;D10S1390E;D10S1564;G20705 FLJ21952;ZNF376 DHHC-6;OTTHUMP00000020491;OTTHUMP00000020492;palmitoyltransferase ZDHHC6;probable palmitoyltransferase ZDHHC6;transmembrane protein H4;zinc finger DHHC domain-containing protein 6;zinc finger protein 376;zinc finger, DHHC domain containing 6 protein-coding ENSG00000023041 19160 15721 PROVISIONAL 1604989 ZDHHC8P1 zinc finger, DHHC-type containing 8 pseudogene 1 22 22 22 q11.23 7547252 7559257 - 22062792 22074799 - 23732792 23744799 - 6480464 16344560;15146197;14702039;12477932;8889549 150244 Q96N15 AA126252;ABBA01055107;ABBA01055108;AK056130;AK092530;AK092581;AMYH01012641;AP000344;BC063382;BC105936;BC105937;BC107600;CH471095;CK902416;CN269046;DA485168;NR_003950 BAB71099;BAC03919;BAG52567;EAW59574;EAW59575;EAW59576;EAW59577 Hs.386693 1651501;1681478;5015861;5024039;5037552;5109281;7185938 A008R36;D10S16;D16S325;D1S1425;D8S2279;RH91790 FLJ31568;MGC126046;MGC126047;ZDHHC8P APPROVED pseudo 26461 08104 VALIDATED 2800586 ZEB2-AS1 ZEB2 antisense RNA 1 2 q22.3 145277181 145278466 + 18347095 100303491 ABBA01028051;AC009951;AI760227;AMYH01011150;BE048858;BG054540;NR_040248 Hs.560789 ZEB2-AS;ZEB2AS;ZEB2NAT APPROVED miscrna ENSG00000238057 37149 VALIDATED 5509856 ZEB2P1 zinc finger E-box binding homeobox 2 pseudogene 1 4 p15.32 16362314 16363449 - 100420926 ABBA01032583;AC006427;AMYH01014027;NG_025087 ZEB1P1 pseudo 33346 INFERRED 1351877 ZDHHC7 zinc finger, DHHC-type containing 7 16 16 16 q24.1 69310278 69347352 - 83565573 83602642 - 85008066 85045141 - 1580863;6480464 14667819;18391951;16344560;15489334;15146197;14702039;12477932;8125298;21832049;21906983;22031296 55625 H3BMI0;H3BNQ9;Q9NXF8 ABBA01016893;ABBA01016894;ABBA01016895;ABBA01016896;AC092341;AK000286;AK001654;AK023428;AK130081;AK225768;AMYH01007872;AW235073;BC017702;BC018772;CH471114;CN427219;DA507340;NM_001145548;NM_017740 AAH17702;AAH18772;ABM82894;ABM86083;BAA91055;BAA91814;EAW95463;EAW95464;EAW95465;NP_001139020;NP_060210;Q9NXF8 Hs.461610;Hs.723447 1768617 D16S3320 DHHC7;FLJ10792;FLJ20279;SERZ-B;SERZ1;ZNF370 DHHC-7;OTTHUMP00000174997;Sertoli cell gene with zinc finger domain-βpalmitoyltransferase ZDHHC7;zinc finger DHHC domain-containing protein 7;zinc finger protein 370 protein-coding ENSG00000153786 18459 15722 614604 VALIDATED 1318899 ZDHHC8 zinc finger, DHHC-type containing 8 This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010] 22 22 q11.21 18499365 18513974 + 20119364 20135530 + 1331525;1580863;6480464 15118671 19156168;18075473;17728672;16860541;16225675;16150541;15992527;15631889;15489334;15489219;15461802;15184899;14702039;12477932;10591208;10574462;18583979;19556522;19801377;20468064;20468065;20661937;21890473;21906983;22763378;23000965 29801 C9JVM2;Q9ULC8 AB033118;ABBA01005393;AC006547;AK131238;AMYH01012483;AMYH01012484;AMYH01012485;AY894890;BC009442;BC015243;BC053544;CH471176;CR456357;NG_021420;NM_001185024;NM_013373 AAH09442;AAH53544;AAX73369;BAA86606;BAD18420;CAG30243;CAK54498;CAK54797;EAX02982;EAX02983;EAX02984;NP_001171953;NP_037505;Q9ULC8 Hs.63128 1651501;1681478;1693800 A008R36;RH91790;SHGC-58939 DHHC8;ZDHHCL1;ZNF378 OTTHUMP00000197629;OTTHUMP00000197630;OTTHUMP00000197631;membrane-associated DHHC8 zinc finger protein;probable palmitoyltransferase ZDHHC8;zinc finger protein 378;zinc finger, DHHC domain like containing 1 APPROVED protein-coding ENSG00000099904 18474 12298 608784 REVIEWED 5134903 ZEB1-AS1 ZEB1 antisense RNA 1 10 10 p11.22 31370728 31373295 - 31605457 31608024 - 12477932;16344560 220930 ABBA01033402;AK026657;AK296146;AL117340;AMYH01002220;BC042008;BX446976;DB121883;DB127940;NR_024284 BAG58885 Hs.372654 APPROVED miscrna 42354 PREDICTED 1321095 ZER1 zyg-11 related, cell cycle regulator This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012] 9 9 9 q34.11 102142849 102184970 - 130531886 130574019 - 131492065 131534198 - 737633;6480464 12477932 17304241;15489334;15164053;11719588;18187417;21987572;21139048;21890473;21906983;21963094;20706999;23568457;22053931 10444 Q05BR7;Q7Z7L7 ABBA01043899;ABBA01043900;ABBA01043901;AK314911;AL441992;AMYH01021751;AMYH01021752;BC001447;BC033884;BC052563;CH471090;HY170548;NM_006336;X99802 AAH33884;AAH52563;BAG37423;CAA68137;EAW87829;EAW87830;EAW87831;NP_006327;Q7Z7L7 Hs.147950;Hs.744180 1668372;1689925;1778414;1858243;2141728;2156537;2172027;5106655;7186271 A005A01;A007G01;A009Q15;D9S290;RH12806;RH15914;RH77924;RH94051;SHGC-53023 C9orf60;Hzyg;RP11-545E17.4;ZYG;ZYG11BL OTTHUMP00000022294;ZYG homolog;chromosome 9 open reading frame 60;homolog of Zyg-11;protein zer-1 homolog;zer-1 homolog;zyg-11 homolog B-like protein APPROVED protein-coding ENSG00000160445 30960 10802 REVIEWED 1348132 ZDHHC9 zinc finger, DHHC-type containing 9 This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010] X X X q26.1 129323767 129364414 - 128766593 128805554 - 128937264 128977910 - 1580863;6480464;7240710 17519897;17436253;16193335;16000296;15772651;15489334;15203218;14702039;12975309;12477932;10810093;18029348;15790807;16344560;21388813;22230506;21139048;21890473;21963094 51114 H0Y6K6;Q5JYE8;Q9NVL0 AB209807;ABBA01047840;ABBA01047841;ABBA01047842;ABBA01047843;ABBA01047844;ABBA01047845;AF151847;AK001112;AK001424;AK001524;AK096967;AL034405;AL161962;AL359542;AMYH01022964;AY358558;AY952881;BC000035;BC003128;BC006200;BC012826;BM272779;BM909699;CD627424;CH471107;DA493628;DA768650;NG_021387;NM_001008222;NM_016032 AAD34084;AAH00035;AAH03128;AAH06200;AAH12826;AAQ88922;ACE86503;ACE87184;ACF60379;BAA91683;BAA91740;BAD93044;BAG50857;BAG53403;CAB82308;EAX11822;EAX11823;EAX11824;EAX11825;NP_001008223;NP_057116;Q9Y397 Hs.193566 1646429;1691558;1691658;2117751;5017917 AL032594;AL032614;STS-R49987;WI-13538;ZDHHC9 CGI-89;CGI89;CXorf11;DHHC9;MMSA-1;MMSA1;MRXSZ;ZDHHC10;ZNF379;ZNF380 Asp-His-His-Cys domain containing protein 9;OTTHUMP00000023989;OTTHUMP00000023990;OTTHUMP00000023992;antigen MMSA-1;palmitoyltransferase ZDHHC9;zinc finger protein 379;zinc finger protein 380;zinc finger, DHHC domain containing 10;zinc finger, dhhc domain containing 9 APPROVED protein-coding ENSG00000188706 18475 06759 300646;300799 REVIEWED 1299953 ZEB1 zinc finger E-box binding homeobox 1 This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010] 10 10 p11.2 31648148 31856742 + 31608101 31818742 + 1580863;6480464;7240710 17967884;21241837;20418909;8138542;1840704;19225155;19208835;19194497;19177200;19147758;19116147;19116136;18984674;18829540;18622689;18487993;18483486;18467597;18411277;18376396;18321996;18199550;18172091;17936922;17935237;17610840;17486063;17437275;17391671;17081983;16952552;16804902;16252232;16203744;16087177;16061479;15384081;15302935;14965470;14702039;12743039;12743038;12477932;12163027;12161443;11760832;11275565;10359772;9724649;9418848;7935395;1427828;11810028;22213004;22481253;22850877;15674322;21317430;21518799;20452118;20514018;20935629;20729552;12714599;12937339;16385451;19153669;19584296;19754958;19935649;19997581;20036349;20175752;20375168;20424117;18029348;20970163;21067486;21079000;20731704;20980099;19921427;22286765;22652173;22939629;19432861;21224848;17546044;21324165;21525039;21747944;22086445;23038259;19651985;21315410;21411626;22262832;22205962;21643654;21791114;21593765;22212097;22080605;21890822;21955614;21584833;10567582;21532573;21693764;22249256;22162761;22391641;19471022;21527937;21717425;22199242;22205702;22213144;22095522;22892238;22466758;23599324;23190132;23285017;22094256;23030626;23049906;22685266;23065281;23013135 6935 B2RBI8;F6TDF5;G3V1R3;H0YK08;H0YK86;H0YKM9;H0YL63;H0YLL9;H0YMD3;H0YME0;H0YMN2;H0YN12;H0YN57;H0YND9;Q5T968 ABBA01033399;ABBA01033400;ABBA01033401;AI086650;AK091478;AK294775;AK296244;AK299541;AK299666;AK300830;AK307510;AK308785;AK308822;AK309331;AK309399;AK310924;AK311116;AK311137;AK311187;AK311201;AK311372;AK311557;AK314683;AL117340;AL158080;AL161935;AL355148;AL831979;AMYH01002221;BC009572;BC065705;BC107781;BC112392;BQ003893;BX111519;BX647794;CH471072;DB442432;DC299346;M81699;NG_017048;NM_001128128;NM_001174093;NM_001174094;NM_001174095;NM_001174096;NM_030751;U12170 AAA20602;AAH09572;AAI07782;AAI12393;BAC03673;BAG37235;BAG57903;BAG58962;BAG61488;BAG61580;BAG62481;EAW85989;EAW85990;NP_001121600;NP_001167564;NP_001167565;NP_001167566;NP_001167567;NP_110378;P37275 Hs.124503 1298240;1298290;1339314;1340795;1341850;1660505;1678739;1686442;1697150;1758825;1767023;2119682;2156919;7185549;7186340 D10S1780;D10S1781;D10S183;D10S208;D10S565;RH102061;RH68664;RH92798;RH93105;SHGC-150616;SHGC-152671;SHGC-31480;STS-AA017128 AREB6;BZP;DELTA-EF1;DELTAEF1;FECD6;MGC133261;NIL-2-A;NIL-2A;NIL2A;PPCD3;TCF8;ZEB;ZFHEP;ZFHX1A OTTHUMP00000019404;OTTHUMP00000019405;OTTHUMP00000019406;delta-crystallin enhancer binding factor 1;negative regulator of IL2;posterior polymorphous corneal dystrophy 3;transcription factor 8 (represses interleukin 2 expression);zinc finger E-box-binding homeobox 1;zinc finger homeodomain enhancer-binding protein 1643505;1643515 BW286_H;BW287_H APPROVED protein-coding ENSG00000148516 11642 01798 189909;609141;613270 REVIEWED 1604554 ZFAND2A zinc finger, AN1-type domain 2A 7 7 7 p22.3 1156001 1163022 - 1159070 1166324 - 1192543 1199855 - 6480464 15489334;12477932;20185824;22990118;21906983;22505724 90637 A8MYA3;I3L1X3;J3KQ25;Q8N6M9 AACC02000050;ABBA01039320;AC091729;AI435373;AK027118;AK290170;AMYH01016952;BC016963;BC029558;CH236953;CH471144;NM_182491 AAH29558;BAF82859;EAL23939;EAW87196;EAW87197;NP_872297;Q8N6M9 Hs.648111 1764077 SHGC-147733 AIRAP AN1-type zinc finger protein 2A;OTTHUMP00000147550;OTTHUMP00000147551;OTTHUMP00000200091;arsenite inducible RNA associated protein protein-coding ENSG00000178381 28073 14277 610699 VALIDATED 1605942 ZFAND1 zinc finger, AN1-type domain 1 8 8 8 q21.13 78618071 78638022 - 82776513 82796085 - 82613566 82633539 - 6480464 15489334;14702039;12477932;8889548;17207965;8125298;22318606;19322201;23535730 79752 E5RFE5;E5RFU1;E5RG60;E5RGE5;E5RHR9;E5RI74;E5RIH7;E5RIS3;E5RJ74;E5RJ99;E5RK75;H0YBX7;Q8TCF1 ABBA01004050;ABBA01004051;AC132219;AK024069;AK225195;AK304111;AL833030;AMYH01018830;BC022251;BC051857;BC056877;BG618233;BQ427843;BQ435400;BU624414;BU678501;CA412820;CH471068;CR457323;NM_001170796;NM_001170797;NM_024699;NR_033193;NR_033194;NR_033195;NR_033196 AAH22251;AAH51857;AAH56877;ADQ32185;BAB14813;BAG65013;CAG33604;CAH56344;EAW87103;EAW87104;EAW87105;EAW87106;NP_001164267;NP_001164268;NP_078975;Q8TCF1 Hs.655453 1674208;1684413;1851825 A009A23;RH45131;RH92477 FLJ14007 AN1-type zinc finger protein 1;OTTHUMP00000227213;OTTHUMP00000227214;OTTHUMP00000227607;OTTHUMP00000227612 protein-coding ENSG00000104231 25858 07847 VALIDATED 5490868 ZFAND6P1 zinc finger, AN1-type domain 6 pseudogene 1 9 p 35449637 35451105 + 100631382 ABBA01064993;AL133476;AMYH01019345;NG_029329 KIAA0375 pseudo 42978 INFERRED 1316368 ZEB2 zinc finger E-box binding homeobox 2 The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010] 2 2 q22.3 144862053 144994386 - 145141942 145277958 - 1599885;1580863;6480464;7240710 11279515 12746390;11477103;11592033;9853615;19486012;19336370;19215041;19183406;19006215;18829540;18411277;18376396;18259761;18182442;17958891;17932455;17855508;17585049;17360662;17203459;17060462;16688751;16568083;16532472;16273209;16061479;16053902;15742334;15489334;15384097;15231748;15121779;15026811;15006694;12920073;12743039;12743038;12477932;12451214;12175509;12161443;12149685;11891681;11595972;11448942;11430829;10400677;9628581;16169070;22350782;22761708;21529905;20585627;20634891;12714599;15342556;16344560;19706487;19842203;19931509;20074535;20145308;20219685;20375168;20379614;20424117;8889548;20551052;17082780;18029348;20682777;20301585;21079000;19381684;19830559;20515682;22311119;21832049;19651985;21411626;21518799;21645397;21747944;22227038;21426561;21890822;22393452;22042972;22213144;21139048;21890473;19322201;22414880;23049906;23376074;22486326;23352789;23427518;22892238;22949513;23143680;23184150;23251661;23479023;23312517;23312518;22103974;22685266;23052737 9839 C9JU62;C9JUQ1;E7ESP8;E7EUW9;E7EVG9;H7C0G0;O60315 AB011141;AB015341;AB056507;AB193095;AB193096;ABBA01028051;ABBA01028052;ABBA01028053;AC009951;AC010130;AF085983;AF161345;AI341193;AI858477;AK124806;AK294928;AK308124;AK308445;AL118674;AMYH01011150;AY029472;BC025696;BC025730;BC035706;BC037975;BC060819;BC127101;BC127102;BP218652;BU688017;CH471058;DA305985;NG_016431;NM_001171653;NM_014795;NR_033258 AAF28905;AAI27102;AAI27103;AAK52081;AAX93269;AAX93276;BAA25495;BAA34798;BAB40819;BAD60927;BAD60928;BAH11928;EAX11575;EAX11576;EAX11577;NP_001165124;NP_055610;O60315 Hs.34871 1650417;1682660;1704872;1710344;1714067;1767868;1769178;1773428;1848175;1858171;2114188;2132995;2183184;5014051;5015619;5021872;5022200;5022651;5037552 D11S2921;D11S3114;D8S2278;D8S2279;L18426;RH119637;RH16338;RH16638;RH68819;RH69384;RH98161;SHGC-32375;SHGC-32856;SHGC-35092;SHGC-79910;SHGC-82424;STS-T23699;WI-17978;sY3084 FLJ42816;HSPC082;KIAA0569;SIP-1;SIP1;SMADIP1;ZFHX1B OTTHUMP00000162653;OTTHUMP00000204540;OTTHUMP00000204541;OTTHUMP00000204542;SMAD interacting protein 1;Smad-interacting protein 1;zinc finger E-box-binding homeobox 2;zinc finger homeobox 1b;zinc finger homeobox protein 1b APPROVED protein-coding 14881 05780 235730;605802 REVIEWED 1347960 ZFAND4 zinc finger, AN1-type domain 4 10 10 10 q11.22 42108967 42166179 - 45431049 45487802 - 46111039 46168251 - 1580863;6480464 16344560;15489334;15164054;14702039;12477932;16385451 93550 F2Z2H4;J3KPC0;Q5VVY2;Q5VVY4;Q5VVY6;Q86XD8 AA813695;ABBA01050033;ABBA01050034;ABBA01050035;ABBA01050036;ABBA01050037;AF311324;AK090704;AK097504;AK097924;AK292420;AK292469;AK314395;AL445201;AMYH01002302;BC017591;BC045587;BC048968;CH471160;DB079347;DB454939;NM_001128324;NM_174890 AAG33850;AAH45587;AAH48968;ADZ15556;BAF85109;BAF85158;BAG37019;BAG52215;BAG53478;BAG53552;EAW86653;EAW86654;EAW86655;EAW86656;NP_001121796;NP_777550;Q86XD8 Hs.89029 1652957;1686000;1736024;1781952 D10S1302E;RH93839;SHGC-132871;SHGC-53860 ANUBL1;FLJ40185 AN1, ubiquitin-like, homolog;AN1-type zinc finger and ubiquitin domain-containing protein 1;AN1-type zinc finger and ubiquitin domain-containing protein-like 1;AN1-type zinc finger protein 4;OTTHUMP00000019503;OTTHUMP00000019507;zinc finger, AN1-type domain 4 APPROVED protein-coding ENSG00000172671 23504 16494 VALIDATED 1316115 ZFAND3 zinc finger, AN1-type domain 3 6 6 6 pter-p22.3 39342340 39675929 + 37895611 38230375 + 37787307 38122400 + 1580863;6480464 15489334;15342556;14702039;14574404;12477932;10366431;8703127;7829101;19285159;16169070;20379614;21901158;22158537 60685 C9JQ48;E2QRF5;H0Y398;Q9H8U3 ABBA01038292;ABBA01038293;ABBA01038294;ABBA01038295;AI817165;AK023284;AK310757;AL121574;AL133377;AL137302;AL589655;AMYH01016284;AMYH01016285;AW023961;BC031481;BP305887;CH471081;NM_021943 AAH31481;ABM82059;ABM85238;BAB14508;EAX03955;EAX03956;NP_068762;Q9H8U3 Hs.36959 1653145;1657528;1661569;1680008;1705198;1735596;1767198;2131286;2133522;2146474;2164959;2172393;2175351;2186265 D6S1141E;D6S1416;G17027;IB1507;RH27223;RH36227;RH44516;RH45966;RH63715;RH66422;RH79062;SHGC-58151;SHGC-80051;STS-T86742 FLJ13222;FLJ17799;TEX27 AN1-type zinc finger protein 3;OTTHUMP00000016333;OTTHUMP00000016334;OTTHUMP00000016335;OTTHUMP00000216689;testis expressed sequence 27;testis-expressed sequence 27 protein-coding ENSG00000156639 18019 12121 607455 VALIDATED 1602437 ZFAND2B zinc finger, AN1-type domain 2B This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] 2 2 2 q35 213841245 213844076 + 219779782 219782617 + 220071506 220074373 + 6480464 16189514;15489334;14702039;12477932;2132133;18467495;19060904;19414486;17207965;21139048;21906983;16341674;22505724 130617 B4DEN4;B8ZZ56;C9J1R6;E7EV05;E9PFU9;F8WEE4;H7C491;Q8WV99 ABBA01023847;AC068946;AK074571;AK091345;AK292622;AK293714;AMYH01011504;AMYH01011505;BC018415;BE742808;BM852092;BU195818;CH471063;NM_001270998;NM_001270999;NM_138802 AAH18415;ADQ31849;BAC03642;BAF85311;BAG51972;BAG57145;EAW70690;EAW70691;EAW70692;EAW70693;NP_001257927;NP_001257928;NP_620157;Q8WV99 Hs.534540 1856492;2123571 D2S2921;RH18248 AIRAPL AIRAP-like protein;AN1-type zinc finger protein 2B;OTTHUMP00000164175;OTTHUMP00000206129;OTTHUMP00000206130;OTTHUMP00000206132;OTTHUMP00000206133;arsenite inducible RNA associated protein-like;arsenite-inducible RNA-associated protein-like protein;zinc finger, AN1-type 2B APPROVED protein-coding ENSG00000158552 25206 11234 613474 REVIEWED 2290026 ZFAT-AS1 ZFAT antisense RNA 1 This gene encodes a small antisense RNA that may be involved in regulating the sense strand locus, zinc finger and AT hook domain containing. This RNA may play a role in B cell function. A single nucleotide polymorphism in the promoter of this gene is associated with an increased risk of autoimmune thyroid disease.[provided by RefSeq, Jan 2010] 8 8 8 q24.22 131783466 131786084 + 135679496 135682114 + 135610314 135612932 + 15294872;22894909 594840 AB167742;ABBA01012700;AC015599;AMYH01019041;NG_016356;NR_002438 Hs.626298 NCRNA00070;SAS-ZFAT;ZFAT-AS;ZFATAS APPROVED miscrna ENSG00000248492 33992 REVIEWED 1349305 ZFAND5 zinc finger, AN1-type domain 5 9 9 9 q13-q21 45539096 45552933 - 74156161 74169983 - 74966341 74980163 - 1580863;6480464 22665488;16194934;15489334;15164053;14754897;12477932;9758550;16424905;19913121;20628086;21832049;22939629;21923101;21987572;21139048;21906983;21963094;22505724 7763 O76080;Q5QPB1 AA837106;ABBA01033854;AF062072;AF062346;AF062347;AI379933;AK025782;AK290849;AK307376;AL135924;AMYH01021405;AW161082;BC011018;BC027707;BC073131;BG772839;BX489434;BX648551;BX649046;CH471089;NM_001102420;NM_001102421;NM_006007;X75687 AAC42601;AAC42602;AAC61801;AAH11018;AAH27707;AAH73131;ABZ92260;BAF83538;EAW62533;EAW62534;EAW62535;EAW62536;EAW62537;NP_001095890;NP_001095891;NP_005998;O76080 Hs.406096 1643756;1679265;1680307;1694584;1735880;1735922;1780416;2117377;2127646;2191601;5016478;5020948;5022322;5022450;5037552;5491709 AU021721;D10S275;D11S2560;D8S2279;D9S1001E;D9S1058E;D9S1985;D9S1986;G19752;G35510;G43282;GDB:434012;MARC_26819-26820:1034280769:3;RH10556;RH124463;RH79808 ZA20D2;ZFAND5A;ZNF216 AN1-type zinc finger protein 5;OTTHUMP00000021469;OTTHUMP00000021470;OTTHUMP00000021471;OTTHUMP00000021472;zinc finger A20 domain-containing protein 2;zinc finger protein 216;zinc finger, A20 domain containing 2 protein-coding ENSG00000107372 13008 05302 604761 VALIDATED 1345898 ZFAND6 zinc finger, AN1-type domain 6 15 15 15 q25.1 57289219 57367921 + 78139076 78217767 + 80351910 80430735 + 737633;6480464 12477932 11230166;16189514;15698998;15489334;14702039;11256614;19285159;11054541;20549515;20581827;16169070;20379614;20889853;15146197;16344560;22939629;15342556;21810480;21890473;22505724 54469 H0YK21;H0YK54;H0YLR2;H0YME2;H0YMG0;H0YMR5;H3BM82;H3BMJ5;H3BP46;H3BPX9;H3BT16;Q6FIF0 ABBA01060622;AC092701;AF061739;AF261138;AJ251095;AK055881;AK312646;AL136598;AMYH01006848;AW571396;BC005283;BG720174;BI562073;BP231220;BP234517;BX363429;CH471136;CN428457;CR533476;DA091136;DB050060;DR762914;NM_001242911;NM_001242912;NM_001242913;NM_001242914;NM_001242915;NM_001242916;NM_001242917;NM_001242918;NM_001242919;NM_019006 AAD17528;AAG44674;AAH05283;ABZ92339;ACE86853;ACE87540;BAG35530;CAB66533;CAC14876;CAG38507;EAW99122;EAW99123;EAW99124;EAW99125;EAW99126;EAW99127;NP_001229840;NP_001229841;NP_001229842;NP_001229843;NP_001229844;NP_001229845;NP_001229846;NP_001229847;NP_001229848;NP_061879;Q6FIF0 Hs.596679;Hs.744030 1337490;1690498;2120836;2130201 D15S969;RH94373;WI-11220;WI-15537 AWP1;ZA20D3;ZFAND5B AN1-type zinc finger protein 6;OTTHUMP00000185562;associated with PRK1 protein;protein associated with PRK1;zinc finger A20 domain-containing protein 3;zinc finger, A20 domain containing 3 protein-coding ENSG00000086666 30164 18314 610183 VALIDATED 1603447 ZFAS1 ZNFX1 antisense RNA 1 20 20 20 q13.13 44599320 44610404 + 47310234 47339204 + 47894715 47905797 + 6480464 12477932;8889548;16712791;16341674;21460236;20881960;11780052 441951 ABBA01052741;AK124175;AL049766;AMYH01011965;AY339614;AY513722;AY513723;BC032480;BC042807;BC060315;BC062222;BC062447;BC105282;BM706184;BM745942;CB137861;CR936805;NR_003604;NR_003605;NR_003606;NR_036658;NR_036659 AAS76638;AAS76639;Q5QHF1 Hs.356766 1668520;5015861;5037552;7185938 D10S16;D8S2279;RH15910 C20orf199;HSUP1;HSUP2;NCRNA00275;ZNFX1-AS1 APPROVED miscrna ENSG00000177410 33101 VALIDATED 1351762 ZFHX2 zinc finger homeobox 2 14 14 14 q11.2 3852721 3867194 - 23059904 23074374 - 23990064 24020858 - 1580863;6480464 18029348;12477932;11214970;10737800;10470851;15161980 85446 B7ZM83;B9EK48;C9JSX6;G3V3N5;Q9C0A1 AB028979;AB051549;ABBA01061321;AI093184;AL132855;AL135999;AMYH01005604;BC131533;BC144336;BC150606;BI008981;CH471078;NM_033400 AAI31534;AAI44337;AAI50607;BAA83008;BAB21853;EAW66142;EAW66143;EAW66144;EAW66145;NP_207646;Q9C0A1 Hs.508937 2101144;2110057;2110815;2113866;5022450 AB055275;D10S275;ZFHX2_4939;ZNF409__4840;stSG607119 FLJ17566;FLJ42478;KIAA1056;KIAA1762;MGC141820;ZFH-5;ZNF409 OTTHUMP00000210950;ZFH-2;zinc finger homeobox protein 2;zinc finger homeodomain protein 2;zinc finger protein 409 protein-coding ENSG00000136367 20152 18318 VALIDATED 1319399 ZFHX3 zinc finger homeobox 3 This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 16 16 q22.3 71374285 71639775 - 72816784 73092534 - 1580863;2315696;2315697;2315694;2315695;6480464;7240710 15671546;11812077;16637072;15750593 1719379;22544366;21367855;19322201;10318867;19132087;19035517;18796146;18416817;18312352;17671116;17330845;17081983;16932943;16189514;15616553;14715251;14654895;12477932;10855793;10493829;9171351;8666409;7592926;21107608;11312261;19597491;19597492;20201926;20379614;20586826;20599712;20854080;20876357;21347282;23042660;23132824;22452784;19471022;23144151;23041239;23159610;23251482;22916037 463 Q15911;Q8N2Y6 ABBA01016805;ABBA01016806;ABBA01016807;ABBA01016808;ABBA01016809;ABBA01016810;ABBA01016811;AC002044;AC004943;AC116667;AC132068;AMYH01007801;AY424268;BC029653;BC043190;CH471166;D10250;L32832;NG_013211;NM_001164766;NM_006885 AAC14462;AAC31674;AAC79153;AAH29653;AAR26475;BAA01095;EAW59168;EAW59169;EAW59170;NP_001158238;NP_008816;Q15911 Hs.598297 1713295;1714503;1783404;1850181;2125489;2136251;2143209;2148736;2219016 ATBF1_4388;RH119763;RH120639;RH65127;RH65836;RH68561;RH69880;SHGC-154914;WI-22495 ATBF1;ATBT;ZNF927 AT motif-binding factor 1;AT-binding transcription factor 1;OTTHUMP00000174934;ZFH-3;alpha-fetoprotein enhancer binding protein;alpha-fetoprotein enhancer-binding protein;zinc finger homeobox protein 3;zinc finger homeodomain protein 3 APPROVED protein-coding ENSG00000140836 777 00075 104155;176807 REVIEWED 1606690 ZFC3H1 zinc finger, C3H1-type containing 12 12 12 q21.1 71665713 71720096 - 70289646 70344016 - 72003379 72057749 - 6480464 18029348;12477932;9628581;16189514;21832049;22939629;19596686;21139048;21890473 196441 G3V1X1;O60293 AB011118;ABBA01026512;ABBA01026513;AC073612;AC078860;AI015547;AK125035;AMYH01004578;BC015679;BC064336;BC073843;BX647709;CH471054;NM_144982 AAH64336;AAH73843;AAI52904;AAI56733;BAA25472;BAC86028;EAW97260;EAW97261;EAW97262;EAW97263;EAW97264;NP_659419;O60293 Hs.527874 1335874;2107367;2126042;2159544;2160197 AF021117;D12S80;MGC23401__7691;RH77945;SGC38359 CCDC131;DKFZp686A0722;KIAA0546;MGC23401;MGC90200;PSRC2 OTTHUMP00000241507;OTTHUMP00000241508;coiled-coil domain containing 131;coiled-coil domain-containing protein 131;proline/serine-rich coiled-coil 2;proline/serine-rich coiled-coil protein 2;zinc finger C3H1 domain-containing protein protein-coding ENSG00000133858 28328 14489 VALIDATED 6770867 ZFHX4-AS1 ZFHX4 antisense RNA 1 8 q21.11 77523114 77595510 - 16344560;12477932 100192378 ABBA01041996;ABBA01041997;AC011716;AMYH01018805;AMYH01018806;BC037827;BF513146;DA140947;NR_024360 Hs.596420 1660040;1778555;2127742 D8S460;RH77837;SHGC-57962 APPROVED miscrna ENSG00000253661 44165 PREDICTED 1322045 ZFAT zinc finger and AT hook domain containing This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009] 8 8 q24.22 135559213 135794463 - 135490031 135725292 - 1580863;6480464 19162026;18329245;15489334;15294872;14702039;12477932;10819331;20549515;20453441;20881960;20645017;11440990;19847924;20379614;8889548;21988832;22706687;21998595;22589738;22894909 57623 B7Z6H1;E5RGN2;E5RH37;E5RJL9;E5RJT2;E9PBN4;F8W7M8;H0YBJ1;H0YC51;Q4KMQ4;Q6PJQ2;Q86X64 AB040918;AB167738;AB167739;AB167740;AB167741;ABBA01012699;ABBA01012700;ABBA01012701;AC015599;AC087045;AC135075;AK094089;AK300133;AK300324;AK300471;AK301413;AK311494;AL832066;AMYH01019041;BC012989;BC025423;BC039059;BC046180;BC070097;BC098405;BC101766;BC101768;BC143519;BI964061;BM685256;CH471060;DC333809;NG_016356;NM_001029939;NM_001167583;NM_001174157;NM_001174158;NM_020863 AAH12989;AAH25423;AAH46180;AAH98405;AAI01767;AAI01769;AAI43520;BAA96009;BAD12567;BAD12568;BAD12569;BAD12570;BAH13220;BAH13257;BAH13290;BAH13477;EAW92179;NP_001025110;NP_001161055;NP_001167628;NP_001167629;NP_065914;Q9P243 Hs.446172 1338546;1646545;1649335;1650936;1696084;1747129;1752113;1771209;2185408;2185410;5112093 A005O43;D8S1624;D8S1710;G20385;G64002;RH41946;SHGC-106070;SHGC-79106;SHGC-79115;WI-11309;WI-16742 AITD3;KIAA1485;MGC126815;MGC126817;ZFAT1;ZNF406 OTTHUMP00000226455;OTTHUMP00000226456;OTTHUMP00000226457;OTTHUMP00000226458;OTTHUMP00000226460;OTTHUMP00000226461;OTTHUMP00000226463;ZFAT zinc finger 1;zinc finger gene in autoimmune thyroid disease;zinc finger protein 406;zinc finger protein ZFAT;zinc-finger gene in AITD susceptibility region APPROVED protein-coding ENSG00000066827 19899 11712 610931 REVIEWED 1346362 ZFHX4 zinc finger homeobox 4 8 8 8 q21.11 73586882 73772899 + 77756070 77942076 + 77593515 77779521 + 1580863;6480464;7240710 18029348;18391951;16946494;14702039;12477932;11935336;10873665;16344560;20379614;19913121;20546612;20628086;21139048;22505724 79776 E5RG79;E5RGK3;E5RHS1;E5RI93;E7EVZ1;G3V138;H0YBV0;H0YC81;J3QQ66;Q86UP3 AB083343;ABBA01041997;ABBA01041998;AC011716;AC023200;AC087110;AF086273;AK024633;AK095274;AK131399;AK131408;AK131462;AMYH01018806;AMYH01018807;AY260762;BC047745;BC074736;BC085610;BX649074;CA430749;CH471068;DA658176;NM_024721 AAH47745;AAH74736;AAH85610;AAP20225;BAB14939;BAD18546;BAD18607;BAE96598;EAW87049;EAW87050;EAW87051;NP_078997;Q86UP3 Hs.458973 1334857;1673205;1710922;1716883;1764725;2160449;2161941;2166267;2186521;2219762;5492649 D8S1081;D8S1134;RH121734;RH45950;RH68544;SHGC-148315;SHGC-57975;SHGC-84084;STS-AA010197;UniSTS:481900;ZFH4__4938 FLJ16514;FLJ20980;ZFH-4;ZFH4;ZHF4 OTTHUMP00000226942;OTTHUMP00000226948;zinc finger homeobox protein 4;zinc finger homeodomain protein 4;zinc-finger homeodomain protein 4 protein-coding ENSG00000091656 30939 09503 178300;606940 VALIDATED 1313981 ZFP112 zinc finger protein 112 homolog (mouse) 19 19 19 q13.2 41634798 41664883 - 49522546 49552696 - 44830706 44860856 - 1580863;6480464 15057824;14702039;12743021;12477932;16344560 7771 Q0VG01;Q9UJU3 AA449338;AA913353;ABBA01040876;AC084239;AC138473;AF198358;AK023099;AK026230;AK130371;AK302594;AK302966;AL122078;AMYH01009842;AU130692;BC101753;BC117223;CH471126;DB288887;NM_001083335;NM_013380 AAF12816;AAG23968;AAI01754;AAI17224;ADR83281;BAG51156;BAG63846;BAG64114;CAB59253;EAW57268;EAW57269;NP_001076804;NP_037512;Q9UJU3 Hs.48589 1704060;1721385;2120164;2138996;2220038 G59694;RH46140;SHGC-77861;STS-N62629;ZNF228__4985 ZNF112;ZNF228 zfp-112;zinc finger protein 112;zinc finger protein 112 homolog;zinc finger protein 228 protein-coding ENSG00000062370 13021 15753 VALIDATED 1605971 ZFP14 ZFP14 zinc finger protein 19 19 19 q13.12 33612110 33655026 - 41519002 41561918 - 36825355 36870105 - 6480464 10997877;12477932;21906983;22505724 57677 K7EM99;Q9HCL3 AB046779;ABBA01016208;AC092296;AK293103;AL699477;AMYH01009750;BC144691;BC152446;H17024;NM_020917 AAI52447;BAB13385;BAF85792;NP_065968;Q9HCL3 Hs.35524 1698454;1721725;2151818;5015404;5015961;5016781;5020740;5020946;5021228;5022463;5024413;5037552 D15S1477;D3S1673;D8S2279;G59727;GDB:312794;L17705;L17809;L17877;L17971;RH102776;SHGC-67307;WI-16083 KIAA1559;ZNF531 zfp-14;zinc finger protein 14 homolog;zinc finger protein 14-like;zinc finger protein 531 APPROVED protein-coding 29312 17217 VALIDATED 1604799 ZFP2 ZFP2 zinc finger protein 5 5 5 q35.3 173950355 173987691 + 178255522 178292816 + 178322916 178360210 + 6480464 12477932;15231748;20211142;22505724 80108 E5RJD3;Q6ZN57 ABBA01010008;ABBA01010009;AC104117;AC126915;AK025281;AK131367;AMYH01015947;BC132779;BC132781;BC142989;BC144213;BC144216;NM_030613 AAI32780;AAI32782;AAI42990;AAI44214;AAI44217;ADR82991;ADR83165;BAB15104;BAD18518;NP_085116;Q6ZN57 Hs.654533 1774742;1785680;1849013;1849015;2146426;5492387 A005N34;G20358;SHGC-13266;SHGC-77987;STS-R02328;UniSTS:480899 FLJ21628;ZNF751 OTTHUMP00000161485;OTTHUMP00000224387;OTTHUMP00000225381;OTTHUMP00000225382;zfp-2;zinc finger protein 2 homolog;zinc finger protein 751 APPROVED protein-coding ENSG00000198939 26138 08639 PROVISIONAL 1351790 ZFP1 ZFP1 zinc finger protein 16 16 16 q23.1 59475364 59499098 + 73739922 73763633 + 75182421 75206132 + 6480464 15489334;14702039;12477932;2574853;19844255;20562864;21890473;21906983;20360068;21540836;22505724 162239 H3BM94;H3BV40;J3KNQ1;Q6P2D0 ABBA01058124;AC009078;AC099508;AK091562;AK094761;AK291372;AK296560;AK308134;AL038510;AL038511;AL538214;AMYH01007816;AMYH01007817;BC033774;BC064604;BC113863;BC114471;BC127184;BX647144;CH471114;NM_153688 AAH33774;AAH64604;AAI13864;AAI14472;AAI27185;AAI60028;BAC04417;BAF84061;BAG59181;EAW95662;EAW95663;NP_710155;Q6P2D0 Hs.388813 1698624;2167215 RH102867;SHGC-57025 FLJ34243;ZNF475 OTTHUMP00000174939;zfp-1;zinc finger protein 1 homolog;zinc finger protein 475 APPROVED protein-coding ENSG00000184517 23328 15724 VALIDATED 1343281 ZFP106 zinc finger protein 106 homolog (mouse) 15 15 15 q15.1 19472730 19517437 - 40492313 40537019 - 42705021 42749730 - 6480464 17081983;15656981;15635413;15489334;15302935;15231748;14702039;12477932;12434312;20379614;20936779;17000644;20360068;19471022;21139048;21693764;21890473;15175327 64397 H3BSS6;Q96M37 ABBA01038375;ABBA01038376;ABBA01038377;AC012651;AF205632;AF209502;AK024726;AK055517;AK057410;AK091929;AK127741;AK226132;AK294529;AK302735;AL831983;AL832014;AL832352;AL832367;AL832455;AL833301;AMYH01006582;BC014922;BC029366;BC058023;BC070244;BC111396;BX648629;CH471125;FB775578;NM_022473 AAG35666;AAH29366;AAH58023;AAH70244;AAI11397;AAI56041;AAI72483;AAL40184;BAB14976;BAB71475;BAG57738;BAG63952;CAD89926;CAD91134;CAD91142;CAD91147;CAD91149;CAD91157;CAV30746;EAW92551;EAW92552;EAW92553;EAW92554;NP_071918;Q9H2Y7 Hs.511143 1647421;1652869;1666992;1675457;1685898;1688757;1698950;1733658;1736480;1736818;1736820;1736822;2120225;2145414;2163943;5015619;5037552 D11S3114;D15S627E;D15S634E;D15S690E;D15S804;D15S805;D15S806;D15S807;D8S2279;EST160846;G19633;RH103044;RH10446;RH15696;RH39514;RH44783;SHGC-57409 DKFZp451A239;FLJ34610;FLJ45841;SH3BP3;ZNF106;ZNF474 SH3-domain binding protein 3;zfp-106;zinc finger protein 106;zinc finger protein 106 homolog;zinc finger protein 474 protein-coding ENSG00000103994 23240 10317 PROVISIONAL 1346211 ZFP3 ZFP3 zinc finger protein 17 17 17 p13.2 4999378 5017292 + 4922478 4940393 + 4981754 4999669 + 6480464 15342556;14702039;12477932 124961 Q6ZUG2;Q96NJ6 ABBA01054793;ABBA01054794;AC012146;AK055288;AK125731;AK290549;AMYH01008047;BC142962;BP250703;BX647638;CH471108;NM_153018 AAI42963;AAI43074;AAI43075;BAB70898;BAC86263;BAF83238;EAW90362;NP_694563;Q96NJ6 Hs.48832 1647107;1697142;2160947 RH102057;RH66195;STS-AA018406 FLJ30726;ZNF752 zfp-3;zinc finger protein 3 homolog;zinc finger protein 752;zinc finger protein homologous to Zfp-3 in mouse;zinc finger protein-3 APPROVED protein-coding ENSG00000180787 12861 08705 194480 VALIDATED 1349108 ZFP40 zinc finger protein 40 homolog (mouse) 7540 12864 1347669 ZFP28 ZFP28 zinc finger protein 19 19 19 54093305 54111158 + 61742129 61759982 + 57050317 57068170 + 1580863;6480464 19329283;15489334;12477932;12127974;10718198;21900206 140612 K7EL00;K7ES88;Q8NHY6 AB037852;ABBA01020832;AC005498;AC007228;AF226995;AF507045;AK289583;AMYH01010020;BC028416;BC099903;BC127002;BC127003;CH471135;CR749659;NM_020828 AAC32423;AAD23606;AAH28416;AAH99903;AAI27003;AAI27004;AAK28320;AAM28892;BAA92669;BAF82272;CAH18453;EAW72463;EAW72464;EAW72465;NP_065879;Q8NHY6 Hs.14794 1783844;2122914 SHGC-172289;STS-H93611 DKFZp686K03205;KIAA1431;MGC104540;mkr5 krueppel-like zinc finger factor X6;zfp-28;zinc finger factor X6;zinc finger protein 28 homolog APPROVED protein-coding ENSG00000196867 17801 15725 PROVISIONAL 1606971 ZFP42 ZFP42 zinc finger protein 4 4 4 q35.2 186226500 186235743 + 189153919 189163193 + 188916925 188926199 + 6480464 14688391;18281244;16344273;17211834;16865673;15790780;15146197;14702039;12110702;20232320;21446939;21530438;21906983 132625 Q96MM3 ABBA01070585;ABBA01070586;AC108073;AF450454;AK056719;AMYH01014788;AY429593;BE301754;CH471056;CN420210;NM_174900 AAI60056;AAL47167;AAR07993;BAB71264;EAX04610;EAX04611;EAX04612;NP_777560;Q96MM3 Hs.335787 1687908;5022200;5022588;5493079 D5S1597E;L18426;RH38986;UniSTS:484166 REX1;ZNF754 OTTHUMP00000217833;OTTHUMP00000217834;REX-1;REX1 transcription factor;hREX-1;reduced expression protein 1;zfp-42;zinc finger protein 42 homolog;zinc finger protein 754 APPROVED protein-coding ENSG00000179059 30949 15726 614572 VALIDATED 736935 ZFP37 ZFP37 zinc finger protein 9 9 9 q32 86148311 86163133 + 114843995 114858817 - 115804174 115818996 - 1580863;6480464 9585434;9535899;12477932 7539 G3V3L7;Q9Y6Q3 ABBA01042692;AF022158;AK301275;AL162588;AMYH01021655;BC126390;BC144145;CH878453;NM_003408 AAC28425;AAI26391;ADR83336;BAG62836;EAW50556;NP_003399;Q9Y6Q3 Hs.150406 1699676;1760049 RH103443;SHGC-68309 FLJ38524;ZNF906 OTTHUMP00000022750;OTTHUMP00000244044;OTTHUMP00000244045;Zinc finger protein-37, mouse, homolog of;zfp-37;zinc finger protein 37;zinc finger protein 37 homolog;zinc finger protein homologous to Zfp37 in mouse APPROVED protein-coding ENSG00000136866 12863 04258 602951 PROVISIONAL 1605092 ZFP30 ZFP30 zinc finger protein 19 19 19 q13.12 34924083 34947014 - 42815229 42838153 - 38123389 38146313 - 6480464 15489334;12477932;10231032;7849402;16344560;19851296;20198315 22835 D3Y2A0;K7EK76;K7EMM3;K7EPH5;Q9Y2G7 AB023178;ABBA01040631;AC022148;AC093227;AK297301;AMYH01009769;BC041087;BC050542;CH471126;DA479602;GU388430;NM_014898 AAH41087;ABZ92306;ADC93803;BAA76805;BAG59769;EAW56743;EAW56744;EAW56745;NP_055713;Q9Y2G7 Hs.716719;Hs.722657 1701192;5016596;5022578;5109281 D1S1423;D1S1425;GDB:631802;RH104224 KIAA0961;ZNF745 OTTHUMP00000045852;zfp-30;zinc finger protein 30 homolog;zinc finger protein 745 APPROVED protein-coding ENSG00000120784 29555 17201 VALIDATED 1318953 ZFP36L2 ZFP36 ring finger protein-like 2 This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008] 2 2 p22.3-p21 43304210 43307249 - 43449541 43453745 - 1580863;6480464 7835719;17172869;15489334;14981510;14604009;12477932;8889549;8545129;21109922;20506496;21151128;21509594;21278925;21145461 678 P47974 ABBA01075087;AC010883;AMYH01010297;BC005010;BC020369;BE222042;BI489986;BI548620;CH471053;N67537;NM_006887;U07802;X78992 AAA91778;AAH05010;AAY14992;ABM84325;ABM87781;CAA55592;EAX00305;EAX00306;NP_008818;P47974 Hs.503093 1672351;1734236;1735806;2126070;2144949;2148607 D2S1494E;D2S2709;D8S1420E;RH66801;SGC34340;SHGC-30127 BRF2;ERF-2;ERF2;RNF162C;TIS11D EGF-response factor 2;OTTHUMP00000158808;ZFP36-like 2;butyrate response factor 2;zinc finger protein 36, C3H type-like 1;zinc finger protein 36, C3H type-like 2;zinc finger protein 36, C3H1 type-like 2;zinc finger protein, C3H type, 36-like 2 APPROVED protein-coding ENSG00000152518 1108 18319 612053 REVIEWED 1346738 ZFP64P1 ZFP64 zinc finger protein pseudogene 1 14 14 14 q22.1 31037723 31039240 - 50240363 50242080 - 51170712 51172229 - 20125193 319123 ABBA01018142;AL606834;AMYH01005723;NG_002504 ZNF405P APPROVED pseudo 19820 INFERRED 737182 ZFP36 ZFP36 ring finger protein 19 19 q13.1 44589327 44591885 + 39897487 39900052 + 1580863;6480464 16596264;16546352;16262601;16189514;15778452;15535838;15504035;15489334;15280467;15187101;15187092;15170914;15117938;15067324;15014438;14766228;14688255;14604009;12823857;12754205;12751757;12748283;12705825;12646273;12639954;11782475;15231747;16364915;9703499;10751406;19363120;19258311;18814951;18536977;18367721;18250465;17893259;17855506;17606294;17599736;17546847;17517366;17369404;16935542;16820934;16614304;12578839;12578825;12515557;12477932;12440952;12115244;11886850;11748221;8478004;8422274;7768935;2204625;2062660;1699942;14679154;15766526;22863009;22700982;22865915;22544323;20498646;20157568;19995385;19738286;20211142;20828164;20221403;10330172;18029348;19654331;19697322;19962963;20038433;20042592;20335167;21078877;20691152;21784977;21832049;23030431;22387927;21611196;21830391;21656745;21507959;22907529;23595149;21775632;21593445;21606497;21278925;22138182;22433566;21875902;21964062;22426177;22428029;22452791;21818148;22203679;22210895;22203041;22268119;23583445;23269677;23401122;22094256;22968621;22918951;22960231;23241166 7538 M0QY76;M0QZ04;M0R0H3;M0R252;P26651 ABBA01040729;AC011500;AK314042;AMYH01009794;AY771351;BC009693;BM055332;CH471126;HI574314;M63625;M92843;M92844;NM_003407 AAA58489;AAA61240;AAC37600;AAH09693;AAV28731;ABZ92243;ACE86842;ACE87529;BAG36751;CBX47646;EAW56885;EAW56886;NP_003398;P26651 Hs.534052 1646990;1675363;1686176;1734628;1794586;1797202;1852956 D19S633E;PMC321570P3;RH80286;RH81038;STS-H28008;STS-M92843;ZFP36 G0S24;GOS24;NUP475;RNF162A;TIS11;TTP;zfp-36 G0/G1 switch regulatory protein 24;growth factor-inducible nuclear protein NUP475;tristetraprolin;tristetraproline;zfp-36;zinc finger protein 36;zinc finger protein 36 homolog;zinc finger protein 36, C3H type, homolog;zinc finger protein, C3H type, 36 homolog APPROVED protein-coding ENSG00000128016 12862 01835 190700 VALIDATED 1606662 ZFP41 ZFP41 zinc finger protein 8 8 8 q24.3 140638670 140654116 + 144400484 144416250 + 144328991 144344875 + 6480464 14702039;12477932;11214971;16751776;1397691 286128 Q69YS5;Q8N8Y5 ABBA01005261;ABBA01005262;AC138696;AK021976;AK024438;AK096024;AL831951;AMYH01019103;AW576245;BC034608;CH471162;NM_001271156;NM_173832 AAH34608;BAB15728;BAC04676;CAH10581;EAW82273;EAW82274;EAW82275;NP_001258085;NP_776193;Q8N8Y5 Hs.668016 1694620;1722323;1786848;2169424;5022200;5022651 A009A25;D11S2921;G43337;G60228;L18426;SHGC-172469 DKFZp761O1618;FLJ00028;FLJ38705;ZNF753;zfp-41 OTTHUMP00000228002;zfp-41;zinc finger protein 41 homolog APPROVED protein-coding ENSG00000181638 26786 08244 VALIDATED 1344217 ZFP57 ZFP57 zinc finger protein The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009] 6 6 6 p22.1 31246246 31251015 - 29748239 29756866 - 29640169 29644931 - 6480464;7240710 18622393;15070898;12477932;8120052;18854139;19632365;19851445;20301706;21863059;22055183;23499433 346171 B7ZW61;Q9NU63 ABBA01038034;ABBA01038035;AL050328;AL645936;AL669813;AL929591;AMYH01016196;BC157878;BC171888;BX120002;BX927250;CR388408;CR759766;CR936483;NG_013045;NM_001109809 AAI57879;AAI71888;AAI72354;CAB89275;NP_001103279;Q9NU63 Hs.156326 1743295;1785928;1789609;2163338;2189641;2189643;2220066;2220068;2220070;2220074;2220312 D6S2831;D6S2832;D6S2869;D6S2909;GDB:314693;JA07;MOGCA;MOGb;MOGc;SHGC-143535;STS-Z48051 C6orf40;TNDM1;ZNF698;bA145L22;bA145L22.2 OTTHUMP00000065879;OTTHUMP00000215586;chromosome 6 open reading frame 40;zfp-57;zinc finger protein 57 homolog;zinc finger protein 698 APPROVED protein-coding ENSG00000204644 18791 601410;612192 REVIEWED 732154 ZFP36L1 ZFP36 ring finger protein-like 1 This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] 14 14 q22-q24 68324128 68329538 - 69254372 69262960 - 1580863;6480464 15467755;16189514;8595910;19417105;18418350;15489334;15465005;14702039;14604009;12477932;8898945;8346037;8024689;16169070;19092855;19801654;20190752;20702587;20166898;18326031;21102463;15342556;16344560;20967262;8889548;19430480;21906983;21833088;19322201;21044950;21278925;19417104;22505724;17030608;23000965;23128233 677 B3KNA8;G3V2D5;G3V2P5;G3V382;G3V515;J3QTN8;Q07352 ABBA01023685;AI809725;AK024202;AK294363;AK303917;AL132986;AMYH01005821;BC018340;BM712842;BP353132;BQ004874;BQ894292;BT019468;CH471061;DA633985;DA876968;DR423896;FY210721;NM_001244698;NM_001244701;NM_004926;X79066;X79067;X99404 AAH18340;AAV38275;ABM82275;ABM85455;BAG51270;BAG57626;BAG64845;CAA55670;CAA67781;EAW80967;EAW80968;NP_001231627;NP_001231630;NP_004917;Q07352 Hs.707091;Hs.85155 1653833;1662036;1669037;1677148;1791812;2124871;2158360 G15966;PMC126184P2;RH68093;RH70918;RH70919;SHGC-12024;SHGC-64127 BRF1;Berg36;ERF-1;ERF1;RNF162B;TIS11B;cMG1 EGF-response factor 1;OTTHUMP00000245935;butyrate response factor 1;early response factor Berg36;zinc finger protein 36, C3H type-like 1;zinc finger protein 36, C3H1 type-like 1;zinc finger protein, C3H type, 36-like 1 APPROVED protein-coding ENSG00000185650 1107 03041 601064 REVIEWED 1350662 ZFP69B ZFP69 zinc finger protein B 1 1 1 p34.2 39198705 39211763 + 40688366 40701939 + 40916337 40929390 + 737633;1580863;6480464 12477932 15489334;14702039;15146197 65243 D3DPV3;E9PS66;Q9UJL9 ABBA01023175;ABBA01023176;AK091612;AL031985;AL137241;AMYH01000537;BC017498;CH471059;CN256362;NM_023070 AAH17498;ABZ92050;ADZ15976;BAG52392;CAB70626;EAX07216;EAX07217;EAX07218;EAX07219;NP_075558;Q9UJL9 Hs.133034 FLJ34293;RP11-656D10.1;ZKSCAN23B;ZNF643;ZSCAN54B OTTHUMP00000008379;OTTHUMP00000228583;novel zinc finger protein;zinc finger protein 643;zinc finger protein ZFP69B APPROVED protein-coding ENSG00000187801 28053 15884 VALIDATED 1345340 ZFP82 ZFP82 zinc finger protein 19 19 19 q13.12 33667812 33694507 - 41574701 41601390 - 36882861 36909550 - 737633;1580863;6480464 12477932 15489334;14702039;11853319;20562864;22580414 284406 D3Y299;F5H4L8;K7ERD5;Q8N141 AB075828;ABBA01016207;ABBA01016208;AC092296;AK074942;AK315709;AL834267;AMYH01009750;BC032577;GU388429;NM_133466 AAH32577;ABZ92158;ACE86866;ACE87554;ADC93802;BAB85534;BAC11308;CAD38942;NP_597723;Q8N141 Hs.558734 2140625;2177603;5022200;5022578;5022651;5024898;5037552;5109281 A005D28;D11S2921;D1S1423;D1S1425;D6S2794;D8S2279;L18426;STS-N51567 KIAA1948;MGC45380;ZNF545 OTTHUMP00000232098;zfp-82;zinc finger protein 545;zinc finger protein 82 homolog;zinc finger protein 85 APPROVED protein-coding ENSG00000181007 28682 11725 PROVISIONAL 1344727 ZFP92 ZFP92 zinc finger protein X X X q28 152917504 152920809 + 152329775 152340280 + 152683781 152687086 + 6480464 10854409;9099879 139735 A6NM28 ABBA01045403;AMYH01023290;NM_001136273;U82695 A6NM28;NP_001129745 Hs.534554 ZNF897 zfp-92;zinc finger protein 92 homolog;zinc finger protein homologous to Zfp92 in mouse APPROVED protein-coding ENSG00000189420 12865 VALIDATED 1353379 ZFP62 ZFP62 zinc finger protein 5 5 5 q35.3 175898535 175912206 - 180207217 180220877 - 180274611 180288286 - 1580863;6480464 17924679;16344560;15146197;14702039;12477932;8808410;20379614;22505724 643836 D6R9C0;D6RBG3;D6RCF6;J3QSW3;Q8NB50 ABBA01010086;AC016572;AC022413;AI269000;AI689837;AK002206;AK091376;AK091550;AK295714;AK303450;AL832408;AMYH01015972;BC029573;BC140761;BC171780;DA216419;DA323041;NM_001172638;NM_152283 AAI40762;AAI71780;BAC03691;BAG58558;BAG64495;CAI46133;NP_001166109;NP_689496;Q8NB50 Hs.509227 2140610;2220020 WI-15997;ZFP62__4944 DKFZp667F2013;FLJ11344;FLJ34057;FLJ34231;FLJ58781;FLJ59694;MGC176438;ZET;ZNF755 OTTHUMP00000221794;OTTHUMP00000221813;OTTHUMP00000221814;OTTHUMP00000221815;OTTHUMP00000221816;zfp-62;zinc finger protein 62 homolog APPROVED protein-coding ENSG00000196670 23241 610281 VALIDATED 1314245 ZFPM1 zinc finger protein, FOG family member 1 16 16 q24.2 87047515 87129075 + 88520014 88601574 + 1580863;6480464 18676680;18063754;17207461;16127162;15644435;15302935;15231747;12483298;12200364;11675338;9724649;9230307;19170196;19513100;19625176;19654328;19692168;20586925;21047798;21646796;15920471;17118455 161882 Q8IX07 ABBA01015836;ABBA01015837;ABBA01015838;ABBA01015839;ABBA01015840;AC116552;AC135049;AF488691;AMYH01007909;AMYH01007910;AMYH01007911;BE219988;CH471184;NM_153813 AAN45858;EAW66806;EAW66807;EAW66808;NP_722520;Q8IX07 Hs.632218 1339258;1722849;2117739 D16S3023;G60367;RH47756 FOG;FOG1;ZC2HC11A;ZNF408;ZNF89A FOG-1;friend of GATA 1;friend of GATA protein 1;friend of GATA-1;zinc finger protein 89A;zinc finger protein ZFPM1;zinc finger protein, multitype 1 APPROVED protein-coding ENSG00000179588 19762 11800 601950 VALIDATED 1317439 ZFP64 ZFP64 zinc finger protein 20 20 20 q13.2 47405209 47513189 - 50133957 50241931 - 50700550 50808524 - 6480464 17362836;16189514;16169070;15489334;14702039;12477932;11780052;9034307;8125298;20306291;20211142;20531441;22990118;22589738 55734 A2A2N5;A2A2N6;H0Y669;Q9NPA5;Q9NTW7 ABBA01052828;ABBA01052829;ABBA01052830;ABBA01052831;ABBA01052832;AK001596;AK001744;AK022690;AK024671;AK090547;AK222712;AL109984;AL121771;AMYH01011989;BC012759;BC021087;BC031524;BC041622;BT009760;CH471077;NM_018197;NM_022088;NM_199426;NM_199427 AAH12759;AAH41622;AAP88762;BAA91777;BAA91876;BAB14182;BAD96432;BAG52182;EAW75590;EAW75591;EAW75592;EAW75593;NP_060667;NP_071371;NP_955458;NP_955459;Q9NPA5;Q9NTW7 Hs.473082 1661065;1688156;1769072;2148396;5022651 D11S2921;RH36377;RH94187;SHGC-31784;SHGC-58065 MGC940;ZNF338 OTTHUMP00000031300;OTTHUMP00000031301;OTTHUMP00000031302;OTTHUMP00000031305;OTTHUMP00000165904;zinc finger protein 338;zinc finger protein 64;zinc finger protein 64 homolog APPROVED protein-coding ENSG00000020256 15940 15728 VALIDATED 1642406 ZFP91-CNTF ZFP91-CNTF readthrough (NMD candidate) This gene represents a read-through transcript composed of ZFP91 and CNTF sequence. This transcript is thought to be non-coding because it would be subject to nonsense-mediated mRNA decay (NMD). Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Aug 2008] 11 11 11 q12.2 55705690 55752306 + 58103163 58149782 + 58346587 58393206 + 6480464 20967262;17081983;16582619;16400609;15302935;15009096;12738986;12477932;11361095;11058868;1840538;19322201;23349640 386607 H3BTR0 AB057443;ABBA01021490;ABBA01021491;AMYH01003660;AMYH01003661;AP001350;BG721319;NR_024091 BAB63374 Hs.524920 1342203;1651758;1668662;1672557;1682974;1737993;1742269;1743609;1752531;1768697;1777786;1797416;2110061;2113960 CNTF;CNTF_1913;D11S3594;D11S4202;D11S4596;GDB:194646;GDB:360980;RH78256;RH79883;SHGC-106382;SHGC-30116;STS-AA036951;WI-12111;ZFP91__4947 MGC51126 APPROVED miscrna ENSG00000255073 33441 VALIDATED 1343701 ZFP69 ZFP69 zinc finger protein 1 1 1 p34.2 39225688 39244405 + 40715889 40734602 + 40943302 40962015 + 6480464 8889548;16710414;16344560;15489334;14702039;12477932;10737800;19578398;20379614 339559 Q49AA0 ABBA01023174;ABBA01023175;AK122618;AL603839;AMYH01000537;BC041873;BC078148;BC144174;BM677727;CH471059;CV374692;CX871163;DA687888;NM_198494 AAH41873;BAC85492;EAX07215;NP_940896;Q49AA0 Hs.434385 FLJ16030;RP11-656D10.2;ZFP69A;ZKSCAN23A;ZNF642;ZSCAN54A OTTHUMP00000008381;OTTHUMP00000008382;ZFP69 zinc finger protein A;zinc finger protein 642;zinc finger protein ZFP69 APPROVED protein-coding ENSG00000187815 24708 15883 VALIDATED 3277535 ZFRP1 zinc finger RNA binding protein pseudogene 1 X X X q11.1 120244016 120244758 + 62020267 62021103 - 62103542 62104378 - 100129438 ABBA01027357;AMYH01022473;BX119964;NG_023000 pseudo 38030 INFERRED 1350266 ZFP90 ZFP90 zinc finger protein 16 16 16 q22.1 53082214 53109582 + 67131162 67158540 + 68573661 68601039 + 1580863;6480464 16344560;15852396;15489334;14702039;12477932;11853319;7576184;19915572;20379614;21107309;21297633;22174851;23128233 146198 H3BMI1;H3BVC6;I3L0T2;I3L0X7;I3L1L4;I3L2Q3;I3L3M0;J3QKQ8;Q8TF47 AB075834;ABBA01025489;AC009162;AC126773;AK056596;AK074332;AK122847;AK123121;AK126167;AK304152;AK316251;AMYH01007756;BC033165;BC040486;BC040871;BC140886;BC140887;CH471092;DA803284;NM_133458 AAH33165;AAI40887;AAI40888;BAB71228;BAB85540;BAC86467;BAG53759;BAG65042;BAH14622;EAW83234;EAW83235;NP_597715;Q8TF47 Hs.461074;Hs.709017 1340947;1650500;1665227;1769627;1850533;1854217;2111400;2119142;2119144;2138291;2143525;2143527;2153001;2171156;5110864 A002L44;A005R23;D11S1889;D11S1908;D16S2533E;DBEST27813;G20440;G29138;RH66667;RH68222;RH68732;SHGC-10921;SHGC-10922;SHGC-60815;SHGC-7464 NK10;ZNF756 zfp-90;zinc finger protein 476;zinc finger protein 756;zinc finger protein 90 homolog APPROVED protein-coding ENSG00000184939 23329 18729 609451 PROVISIONAL 6481388 ZFX-AS1 ZFX antisense RNA 1 X 24164342 24167771 - 100873922 ABBA01072294;AC002404;AMYH01022162;NR_046657 Hs.609207 APPROVED miscrna ENSG00000234230 40617 PREDICTED 1354161 ZFP91 ZFP91 zinc finger protein The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. This protein functions as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. Alternative splicing results in multiple transcript variants. A read-through transcript variant composed of ZFP91 and the downstream CNTF gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudogene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010] 11 11 11 q12 55705690 55747615 + 58103163 58145091 + 58346587 58389023 + 6480464 15009096;17081983;16582619;15489334;15302935;12738986;12477932;11483580;11361095;11058868;18029348;15342556;20434516;20682767;20804734;7835706;22939629;19322201;21987572;19471022;21890473;23000965;23349640;15576338;22190034 80829 Q96JP5 AB056107;ABBA01021490;ABBA01021491;AF305825;AF310246;AI687439;AJ270692;AK025502;AK295700;AMYH01003660;AMYH01003661;AP001350;AP003557;BC051743;BP219969;CH471076;NM_001197051;NM_053023 AAH51743;AAK55528;AAL09963;BAB63373;BAG58548;EAW73811;EAW73813;EAW73816;EAW73817;EAW73818;NP_001183980;NP_444251;Q96JP5 Hs.524920 1342203;1651758;1668662;1672557;1682974;1737993;1752531;1777786 D11S3594;D11S4202;RH78256;RH79883;SHGC-106382;SHGC-30116;STS-AA036951;WI-12111 DMS-8;DSM-8;FKSG11;FLJ57065;PZF;ZFP-91;ZNF757 E3 ubiquitin-protein ligase ZFP91;OTTHUMP00000174732;OTTHUMP00000196612;OTTHUMP00000196613;OTTHUMP00000232451;drug resistance-associated sequence in melanoma 8;penta zinc finger protein;zfp-91;zinc finger protein 757;zinc finger protein 91 homolog;zinc finger protein homologous to Zfp91 in mouse APPROVED protein-coding ENSG00000186660 14983 11700 REVIEWED 5490869 ZFY-AS1 ZFY antisense RNA 1 Y 2834873 2870667 - 100506003 XR_109785 1647589;1677714;1684487;1685888;1686028;1730057;1797058;2163760 DYS251;G38352;RH38672;RH38678;RH76207;RH78934;SHGC-35340;ZFX_1122 ZFY-AS;ZFYAS APPROVED miscrna 38798 1350269 ZFPL1 zinc finger protein-like 1 11 11 11 q13 62177992 62182172 + 64608270 64612450 + 64851694 64855874 + 1580863;6480464 9653652;18323775;15489334;14671302;12878157;12477932;9253601;16169070;18029348;21139048 7542 E9PJ47;E9PJX1;E9PMQ3;E9PNY1;E9PQ47;E9PQA5;H0YCU8;O95159 ABBA01024136;AF001891;AF030291;AF043611;AI207587;AK291964;AK295279;AK308740;AK316044;AMYH01003716;AP003068;AU279924;AY411288;BC012530;BC012814;CH471076;NM_006782 AAB86533;AAD08644;AAF21634;AAH12530;AAH12814;BAF84653;BAG58263;BAH14415;EAW74344;EAW74345;EAW74346;NP_006773;O95159 Hs.712317;Hs.98170 1663242;1689843;2004072;2155693;2220022 REN72948;RH11465;RH92166;SGC33858;ZFPL1__4949 D11S750;MCG4 OTTHUMP00000230383;OTTHUMP00000230384;zinc finger protein MCG4;zinc finger protein-like 1;zinc-finger protein in MEN1 region protein-coding ENSG00000162300 12868 15729 VALIDATED 1314398 ZFPM2 zinc finger protein, FOG family member 2 The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008] 8 8 q23 106400323 106885943 + 106331147 106816767 + 1580641;1580640;6480464;7240710 14517948;15705784 15489334;11297508;10438528;18658259;17568391;17309641;16713569;16103912;15643620;15220332;12606418;12477932;10329627;9927675;21658281;20807224;14985365;20005803;20379614;21947317;18252717;20705609;18067919;23029311;22570617;22558309;21988832;21757650;10801815;23453885;22139419;19723756;21919901 23414 E5RJX0;E7ET52;F5H542;Q8WW38;Q9NPQ0 AB073894;ABBA01037659;ABBA01037660;ABBA01037661;ABBA01037662;ABBA01037663;ABBA01037664;ABBA01037665;ABBA01037666;ABBA01037667;ABBA01037668;ABBA01037669;ABBA01037670;ABBA01037671;ABBA01037672;ABBA01037673;ABBA01037674;ABBA01037675;ABBA01037676;ABBA01037677;AC018525;AC022721;AC041039;AC090802;AC103853;AF119334;AK296997;AK303058;AK316426;AL389974;AL389987;AL389988;AL389989;AMYH01018948;AMYH01018949;BC020928;BC109222;BC109223;CH471060;NG_011723;NM_012082 AAD49558;AAH20928;AAI09223;AAI09224;BAG59535;BAG64175;BAH14797;CAB97539;CAB97540;CAB97541;EAW91899;NP_036214;Q8WW38 Hs.431009 1336225;1341139;1658397;1672363;1690192;1705682;1709214;1711940;1749151;1848199;2108653;2140725;2149408;2174279;2174910;2184788 A007K30;D8S1487;D8S1703;D8S1768;D8S1897;D8S2005;G49581;RH18423;RH48595;RH68588;RH79250;RH93255;SHGC-110826;SHGC-83420;SHGC-85791;ZFPM2_8010 DIH3;FOG2;MGC129663;MGC129664;ZC2HC11B;ZNF89B;hFOG-2 FOG-2;Friend of GATA2;OTTHUMP00000227730;friend of GATA 2;friend of GATA protein 2;transcription factor GATA4, modulator of;zinc finger protein 89B;zinc finger protein ZFPM2;zinc finger protein, multitype 2 2315771 GLUCO144_H APPROVED protein-coding ENSG00000169946 16700 04737 187500;603693;610187 REVIEWED 1312353 ZFR2 zinc finger RNA binding protein 2 19 19 19 p13.3 3741663 3806609 - 3755022 3820027 - 3804022 3869027 - 1580863;6480464 16344560;12477932;10470851 23217 B4DHD0;K7EKD7;K7EPY6;K7EQC0;Q9UPR6 AB029009;ABBA01002847;ABBA01002848;ABBA01002849;ABBA01002850;ABBA01002851;AC004598;AC005777;AC093078;AK295037;AL365406;AMYH01009318;AMYH01009319;BC034005;DA333602;NM_001145640;NM_015174;NR_027149 BAA83038;BAG58091;NP_001139112;NP_055989;Q9UPR6 Hs.65750 1646481;1687169;1699488;1734666;2120877;5021396 D19S670E;G18047;GDB:313783;RH103337;RH79663;WI-18563 KIAA1086 zinc finger RNA-binding protein 2 protein-coding ENSG00000105278 29189 VALIDATED 1344344 ZFX zinc finger protein, X-linked This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010] X X p21.3 24077824 24142549 + 24167762 24234372 + 1580863;6480464 2105457;2500252;22357206;18029348;15302935;15060604;14660691;12477932;11214319;9364438;2512506;2497060;2308929;2041734;16344560;22955854;22879936;22185393;21890473;22009483;23461064 7543 B9EG97;C9J682;C9JGU9;E9PEP7;P17010;Q59EB9;Q8WXB7 AB209892;ABBA01072294;ABBA01072295;ABBA01072296;ABBA01072297;ABBA01072298;ABBA01072299;ABBA01072300;ABBA01072301;AC002404;AF045781;AF454948;AF454949;AF454950;AF505615;AF505616;AF505617;AF505618;AF505619;AMYH01022162;AY012072;AY072770;BC030756;BC136308;BC136309;CH471074;DA848249;DA995443;M30608;NG_021253;NM_001178084;NM_001178085;NM_001178086;NM_001178095;NM_003410;X59738;X59739;X59740 AAA61309;AAC03062;AAG38815;AAI36309;AAI36310;AAL51082;AAL51083;AAL51084;AAL67136;AAM33383;AAM33384;AAM33385;AAM33386;AAM33387;BAD93129;CAA42416;CAA42417;CAA42418;EAW99013;EAW99014;EAW99015;EAW99016;NP_001171555;NP_001171556;NP_001171557;NP_001171566;NP_003401;P17010 Hs.336681 1689919;1701906;1728911;1742951;1793602;1793636;1793638;1793640;1798322;2117062;2136584;2190475 DXS7788;Fabian_Werner_1;G10526;G42693;GDB:216882;PMC24149P10;PMC24149P7;PMC24149P8;PMC24149P9;RH98610;ZFX;ZFX_2118 ZNF926 OTTHUMP00000023078;OTTHUMP00000023079;OTTHUMP00000023080;X-linked zinc finger protein;zinc finger X-chromosomal protein APPROVED protein-coding ENSG00000005889 12869 02445 314980 REVIEWED 1323583 ZFR zinc finger RNA binding protein 5 5 5 p13.3 32236180 32326535 - 32390213 32480601 - 32354456 32444844 - 1580863;6480464 21145461;19322201;21628590;15635413;14702039;12477932;11574164;14729963;17643375;18029348;19615732;22939629;20360068;22178446;21139048;21890473;21906983;22586326;22446626 51663 H0Y8W1;Q05D65;Q9Y687 ABBA01066741;ABBA01066742;AC008949;AF100742;AJ314790;AK025481;AK055938;AK123306;AK292214;AK295297;AK307808;AK309638;AL137258;AMYH01014997;AMYH01014998;BC017879;BC030540;BC038973;BC051893;BC062986;BC107417;BC137084;BC137085;CH471118;NM_016107 AAD40385;AAH17879;AAH30540;AAH51893;AAH62986;AAI07418;AAI37085;AAI37086;BAB15147;BAF84903;BAG51594;BAG53886;BAG58279;CAB70659;CAC40818;EAX10789;EAX10790;EAX10791;NP_057191;Q96KR1 Hs.435231 1650722;1687283;1735470;1739607;1760653;1787844;1788638;2163164;2177130 D5S1592E;D5S1926E;D5S2633;RH18147;RH81088;SHGC-132621;SHGC-144201;SHGC-36633;SHGC-52706 FLJ41312;ZFR1 M-phase phosphoprotein homolog;OTTHUMP00000220926;hZFR;zinc finger RNA-binding protein protein-coding ENSG00000056097 17277 15730 VALIDATED 1347591 ZFY zinc finger protein, Y-linked This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008] Y Y p11.3 2863546 2909891 + 2803112 2850547 + 1580863;6480464 15489334;12815422;12477932;11750730;11173854;10779541;7680890;3690661;2511751;2498838;2497060;2308929;2041734;1854720;1849423;20211142;21890473;22407129 7544 C9JQM1;P08048 ABBA01069763;ABBA01069764;ABBA01069765;ABBA01069766;ABBA01069767;ABBA01069768;ABBA01069769;ABBA01069770;ABBA01069771;ABBA01069772;AC006157;AF114156;AI469059;AI763177;AK301061;AK310553;AL137603;BC114526;BC114960;L10393;M30607;NG_008113;NM_001145275;NM_001145276;NM_003411;X15470 AAA61310;AAA72344;AAD15612;AAF21973;AAI14527;AAI14961;BAG62669;CAA33498;NP_001138747;NP_001138748;NP_003402;P08048 Hs.522845 1647589;1677714;1684487;1685888;1686028;1686929;1730057;1753061;1797058;2163760;5014051;5021672;5021872;5022917;5115820;5115822;5115824;5115826;5115828;5116540 D8S2278;DYS251;G38352;RH38667;RH38672;RH38678;RH76207;RH78934;SHGC-35340;SHGC-79636;ZFX_1122;ZFY-10;ZFY-4;ZFY-5;ZFY-6;ZFY-7;ZFY-8;ZFY-9;sY3047;sY3084 MGC138710;ZNF911 OTTHUMP00000034366;zinc finger Y-chromosomal protein APPROVED protein-coding ENSG00000067646 12870 02466 490000 REVIEWED 1317194 ZFYVE1 zinc finger, FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] 14 14 14 q24.2 53499299 53557223 - 72505912 72563592 - 73436159 73493920 - 6480464 11256955;11804589;11739631;15498874;15489334;14702039;12508121;12477932;11024279;10997877;16344560;21832049;19389623;21900206;22178386 53349 G3V5N8;J3KNL9;Q9HBF4 AB046809;ABBA01030773;ABBA01030774;ABBA01030775;ABBA01030776;ABBA01030777;AF251025;AF311602;AF318319;AI073571;AJ310569;AK027399;AK098542;AL442663;AMYH01005841;AW070816;BC014902;BC053520;BU740588;BX339655;CH471061;CK005173;DA324499;DB059103;EL734498;HY248287;NM_001281734;NM_001281735;NM_021260;NM_178441 AAG23748;AAH53520;AAK27339;AAL55826;BAB13415;BAB55085;CAC83950;EAW81084;EAW81085;NP_001268663;NP_001268664;NP_067083;NP_848535;Q9HBF4 Hs.335106 1645954;1651625;1659966;1668822;1684852;1685451;1728611;1740697;1776597;1778688;1846606;2112132;2112148;2112158;2112162;2128469;2144648;2155684;2186015 D14S1270;D14S1353;D14S1373;D14S1387;D14S1391;G35458;G35461;G35785;G35961;G38063;G38147;G38161;G38191;G38233;G38241;G38325;G63597;RH26227;RH64886 DFCP1;KIAA1589;SR3;TAFF1;ZNFN2A1 OTTHUMP00000245915;OTTHUMP00000245916;OTTHUMP00000245917;OTTHUMP00000245918;OTTHUMP00000245919;SR3;double FYVE-containing protein 1;phosphoinositide-binding protein SR3;tandem FYVE fingers-1 protein;zinc finger FYVE domain-containing protein 1;zinc finger protein, subfamily 2A (FYVE domain containing), 1;zinc finger protein, subfamily 2A, member 1 APPROVED protein-coding ENSG00000165861 13180 12017 605471 REVIEWED 1317236 ZFYVE26 zinc finger, FYVE domain containing 26 This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008] 14 14 q24.1 67282992 67353055 - 68213237 68283306 - 6480464;7240710 11342696;18394578;18332254;17661097;12477932;9205841;19805727;19917823;20208530;20379614;21455500;21545838;21906983 23503 G3V230;G3V2D8;Q7Z3I1;Q96H43 AB002319;AB425197;ABBA01023705;ABBA01023706;AK024743;AK304428;AK308233;AL049779;AL121595;AMYH01005816;BC008927;BC013909;BC033235;BC144594;BX537886;BX538025;BX648036;BX648683;CH471061;CR749276;CR749365;NG_011836;NM_015346 AAH08927;AAH33235;AAI72413;BAA20779;BAG11658;BAG65255;CAD97882;CAD97971;CAH10379;CAH18131;CAH18218;EAW80952;EAW80953;EAW80954;EAW80955;EAW80956;NP_056161;Q68DK2 Hs.98041 1338651;1663169;2108025;2110065;2118086;2156034;2159397;2182655;5126807 A008C26;D14S77;DNAJC9_8008;G35820;MARC_5453-5454:996690402:1;RH45584;RH70433;SHGC-58403;ZFYVE26_9355 DKFZp686F19106;DKFZp781H1112;FYVE-CENT;KIAA0321;SPG15 FYVE domain-containing centrosomal protein;OTTHUMP00000245710;OTTHUMP00000245713;spastizin;zinc finger FYVE domain-containing protein 26 APPROVED protein-coding ENSG00000072121 20761 15734 270700;612012 REVIEWED 1352080 ZFYVE27 zinc finger, FYVE domain containing 27 This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010] 10 10 10 q24.2 93234147 93257930 + 99486875 99510642 + 99496878 99520664 + 737633;6480464;7240710 12477932 19289470;18606302;17082457;16826525;15489334;15164054;14702039;22573551;16712791;16385451;21832049;21976701 118813 B7Z6J9;Q5T4F2 ABBA01021790;AK057481;AK074876;AK097945;AK296295;AK296588;AK299735;AK300438;AL358938;AL561314;AL834235;AMYH01002979;BC030621;BF063694;BF508037;BI758753;BM544601;BU838354;BX647836;CB150532;CH471066;DC302372;NG_017075;NM_001002261;NM_001002262;NM_001174119;NM_001174120;NM_001174121;NM_001174122;NM_144588 AAH30621;BAB71506;BAC05200;BAC11260;BAH12306;BAH12390;BAH13112;BAH13285;CAD38913;EAW49895;EAW49896;EAW49897;EAW49898;EAW49899;EAW49900;EAW49901;EAW49902;NP_001002261;NP_001002262;NP_001167590;NP_001167591;NP_001167592;NP_001167593;NP_653189;Q5T4F4 Hs.744075 1703592;2164380;5022651 D11S2921;SHGC-64748;STS-N20191 PROTRUDIN;RP11-459F3.2;SPG33 OTTHUMP00000020228;OTTHUMP00000020230;OTTHUMP00000020231;protrudin;zinc finger FYVE domain-containing protein 27 APPROVED protein-coding ENSG00000155256 26559 15735 610243;610244 REVIEWED 4144230 ZFYVE9P1 zinc finger, FYVE domain containing 9 pseudogene 1 X X q26.3 137108659 137110382 + 136742678 136744401 + 100289259 ABBA01065849;AL591398;AMYH01023053;NG_022707 pseudo 33359 INFERRED 4888870 ZFYVE9P2 zinc finger, FYVE domain containing 9 pseudogene 2 2 2 17345219 17345831 + 17465552 17466164 + 100420972 ABBA01018510;AC068614;AMYH01010143;NG_023679 1690444 RH48831 pseudo 39046 INFERRED 1313404 ZFYVE20 zinc finger, FYVE domain containing 20 3 3 3 p25.1 15049847 15078926 - 15086584 15115659 - 15111580 15140655 - 1580863;6480464;6907045 11062261;16964243;16034420;15489334;15020713;14702039;12477932;11788822;12493736;16138080;19931244;18029348;17043677;22488850;22308388;15328530 64145 B4DWY8;C9JZZ1;D6RD50;F8WE50;H7C204;Q9H1K0 AB209673;ABBA01025146;AC090954;AK054598;AK092312;AK291288;AK301735;AL833545;AMYH01013000;AMYH01013001;AY009133;BC032628;BC106940;BF513881;BX640925;CH471055;NM_022340 AAG33246;AAI06941;BAC03860;BAD92910;BAF83977;BAG63200;CAE45963;EAW64220;EAW64221;NP_071735;Q9H1K0 Hs.475565;Hs.706478 1710348;1769208;2119850;2143236;2157124;2218666;5014051;5016478;5017170;5022200;5022651;5037552 D11S2921;D3S4025;D3S4113;D8S2278;D8S2279;GDB:434012;L18426;L29953;SGC34220;SHGC-82427;STS-N59228;ZFYVE20__4951 FLJ34993;MGC126210;Rabenosyn-5 110 kDa protein;FYVE finger-containing Rab5 effector protein rabenosyn-5;FYVE-finger-containing Rab5 effector protein rabenosyn-5;OTTHUMP00000160299;OTTHUMP00000208274;OTTHUMP00000222250;rabenosyn-5;zinc finger FYVE domain-containing protein 20 protein-coding ENSG00000131381 20759 15732 609511 VALIDATED 1345411 ZFYVE19 zinc finger, FYVE domain containing 19 15 15 15 q15.1 17867170 17874666 + 38886566 38894059 + 41099274 41106767 + 1580863;6480464 17081983;16344560;15489334;14702039;12618766;12477932;8125298;22863883;22939629 84936 H0YKE3;H0YML4;H3BN64;H3BP54;H3BRF9;H3BRI9;H3BRM1;H3BS07;H3BSF5;H3BUW6;H3BVF5;Q96K21 AB209224;ABBA01038431;AC012476;AF445414;AK027746;AK122779;AK225553;AMYH01006566;BC015738;BC021092;BI860679;CH471125;DA611931;DA653225;DB012963;NM_001077268;NM_001258420;NM_001258421;NM_032850 AAH21092;AAO73862;BAB55338;BAD92461;BAG53724;EAW92447;EAW92448;EAW92449;EAW92450;EAW92451;EAW92452;EAW92453;EAW92454;EAW92455;NP_001070736;NP_001245349;NP_001245350;NP_116239;Q96K21 Hs.121676 2180332;5015619;5037552 D11S3114;D8S2279;WI-21808 FLJ14840;MPFYVE MLL partner containing FYVE domain;zinc finger FYVE domain-containing protein 19 protein-coding ENSG00000166140 20758 15731 VALIDATED 1348980 ZFYVE16 zinc finger, FYVE domain containing 16 The ZFYVE16 gene encodes endofin, an endosomal protein implicated in regulating membrane trafficking. It is characterized by the presence of a phosphatidylinositol 3-phosphate-binding FYVE domain positioned in the middle of the molecule (Seet et al., 2004 [PubMed 14613930]).[supplied by OMIM, Mar 2008] 5 5 q14 79739594 79811254 + 79703838 79775498 + 1580863;6480464;6484113;6907045 11546807;14613930;15621726;17356069;17570516;17272273;16775010;16344560;15592455;15489334;15231748;15144186;14702039;12477932;9205841;11433298;19887107;21832049;22939629;18029348;21139048;21890473;21906983;21963094;18781797;21987572;22053931 9765 D6RC80;H0Y8R0;H0YAA4;H0YAB1;Q7Z3T8 AB002303;ABBA01062039;AC008771;AF434817;AK090896;AK127003;AL833087;AMYH01015445;AW952550;BC030808;BC032227;BX537424;BX649172;BX956000;CH471084;CR933621;DB208042;NM_001105251;NM_014733 AAH30808;AAL30772;BAA20764;BAG54419;CAD89968;CAD97666;CAI45932;EAW95850;EAW95851;NP_001098721;NP_055548;Q7Z3T8 Hs.482660;Hs.660410 1652831;1657883;1711256;2141503;2177288;5015961;5037552;5491810 D15S1477;D8S2279;RH70374;SHGC-84992;STS-R68242;WI-15051;WI-17790;ZFYVE16 DKFZp686E13162;ENDOFIN;KIAA0305;PPP1R69 OTTHUMP00000135318;OTTHUMP00000222226;OTTHUMP00000222227;endosome-associated FYVE domain protein;endosome-associated FYVE-domain protein;protein phosphatase 1, regulatory subunit 69;zinc finger FYVE domain-containing protein 16 APPROVED protein-coding ENSG00000039319 20756 10319 608880 VALIDATED 1322277 ZFYVE21 zinc finger, FYVE domain containing 21 14 14 14 q32.33 84236401 84254256 + 103251898 103269752 + 104182081 104200005 + 6480464 15489334;14702039;12524540;12477932;8889548;20439989;20601096;19773279;20890123;21768110;22939629;21139048 79038 G3V2M2;G3V5D6;Q9BQ24;R4GN42 ABBA01048412;AK001921;AK057816;AK226142;AK290519;AL049840;AMYH01006050;AMYH01006051;AMYH01006052;AY395756;BC001130;BC005999;BX248261;CA311020;CH471061;CX786145;NM_001198953;NM_024071 AAH01130;AAH05999;AAR14313;BAB71589;BAF83208;CAD62589;EAW81843;EAW81844;NP_001185882;NP_076976;Q9BQ24 Hs.592322 1671579;1671581;1688000;2124524;2126454;2161811;5015861;7185938 A001V41;D10S16;G19698;HSC0RB112;RH69614;RH78568;RH93079 MGC2550;ZF21 FYVE domain containing 21;OTTHUMP00000246660;OTTHUMP00000246661;zinc finger FYVE domain-containing protein 21 protein-coding ENSG00000100711 20760 15733 613504 VALIDATED 1320885 ZFYVE28 zinc finger, FYVE domain containing 28 4 4 4 p16.3 2183673 2332010 - 2241123 2390167 - 2271324 2420370 - 1580863;6480464 19460345;12477932;10997877;18482256;20379614;21987572;21890473;21906983;21963094;23000965;23212062;22505724 57732 D6RID3;E9PB64;Q49AA1 AB046863;ABBA01029508;ABBA01029509;ABBA01029510;ABBA01029511;ABBA01029512;ABBA01029513;ABBA01029514;ABBA01029515;AK126692;AK293775;AK294710;AK294874;AK316484;AL158068;AL645924;AMYH01013875;AMYH01013876;BC032605;BC035793;BC041866;BC053664;BC137309;BC137310;BM128958;CH471131;NM_001172656;NM_001172657;NM_001172658;NM_001172659;NM_001172660;NM_020972 AAH41866;AAH53664;AAI37310;AAI37311;BAB13469;BAG54362;BAH11593;BAH11855;BAH11908;BAH14855;EAW82528;EAW82529;NP_001166127;NP_001166128;NP_001166129;NP_001166130;NP_001166131;NP_066023;Q9HCC9 Hs.292056 1651334;1729538;2119160;2131894;2172488;7184651;7184661;7184667;7184781 D4S1193;D4S43;D4S522;G34099;SHGC-31255 LST2;LYST2;MGC43699;MGC61592 OTTHUMP00000217954;OTTHUMP00000217955;OTTHUMP00000217956;OTTHUMP00000217958;OTTHUMP00000217959;OTTHUMP00000217960;hLst2;lateral signaling target protein 2 homolog;zinc finger FYVE domain-containing protein 28 protein-coding ENSG00000159733 29334 11701 614176 VALIDATED 1321999 ZFYVE9 zinc finger, FYVE domain containing 9 This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013] 1 1 p32.3 52380634 52584946 + 52608046 52812358 + 1580863;2298922;6480464;6484113;6907045 12809600 9865696;12809483;9582421;11100470;17693260;17356069;15613484;15489334;15356634;15231848;15231748;14759258;12477932;12432064;12154125;11877415;10615055;11094085;19620243;22942286;21200089;21878490;18511908;22321011;11918675;12554698;16775010;20515759;21266541;23222715;16916642;18729074;22819827 9372 O95405;Q59GI4 AB209125;ABBA01074775;ABBA01074776;ABBA01074777;ABBA01074778;AC105754;AF104304;AF130419;AF130420;AL139156;AL513218;AMYH01000618;AMYH01000619;BC032680;CH471059;DR005493;NM_004799;NM_007323;NM_007324 AAC99462;AAD31694;AAD31695;AAH32680;ABW03369;BAD92362;EAX06790;EAX06791;EAX06792;NP_004790;NP_015562;NP_015563;O95405 Hs.532345 1658416;1684475;1690444;1752027;1769283;2110067 D1S546;RH44636;RH48831;SHGC-105945;SHGC-74831;ZFYVE9_8927 MADHIP;NSP;SARA;SMADIP MAD homolog interacting protein;MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchor;MADH-interacting protein;OTTHUMP00000009739;OTTHUMP00000009740;OTTHUMP00000009741;hSARA;mothers against decapentaplegic homolog interacting protein;mothers against decapentaplegic homolog-interacting protein;novel serine protease;receptor activation anchor;smad anchor for receptor activation;zinc finger FYVE domain-containing protein 9 APPROVED protein-coding ENSG00000157077 6775 04782 603755 REVIEWED 732666 ZG16 zymogen granule protein 16 16 16 16 p11.2 73004439 73006715 - 29697110 29700597 + 29789561 29792969 + 6480464 12477932;17307141;16713569;16189514;15489334;15340161;11181995;10493829;7720729;21110947;21893569 653808 O60844 AB092813;ABBA01013118;AC002301;AC009133;AK125559;AK312002;AMYH01007494;BC029149;BC150656;CH471238;CK904265;NM_152338 AAC08708;AAH29149;AAI50657;ABM81721;ABM84876;BAC20361;BAG34940;BAG54214;EAW80011;NP_689551;O60844 Hs.632195 1778438 D17S2107 FLJ43571;FLJ92276;JCLN;JCLN1;MGC183567;MGC34820;ZG16A;hZG16 jacalin-like lectin domain containing;secretory lectin ZG16;zymogen granule membrane protein 16;zymogen granule protein 16 homolog APPROVED protein-coding ENSG00000174992 30961 VALIDATED 1605005 ZG16B zymogen granule protein 16B 16 16 16 p13.3 3080104 3082216 + 2820174 2822286 + 2880173 2882285 + 6480464 16381901;12477932;19302292;16954406;16341674;15489336;15489334;12975309;22640743;11678034;11076863;21196815;20858015;16713569;19615732;19784070;20802527;21110947;21464589;21139048 124220 G8H6I3;I3L1H9;I3L3X0;Q96DA0 ABBA01026714;AC005361;AK311810;AMYH01007085;AY359021;BC009722;BF446936;BM786200;BQ924772;CH471112;EF067313;JN411265;NM_145252 AAH09722;AAQ89380;ABM92915;AET71202;BAG34753;CAL37793;CAL38744;EAW85462;NP_660295;Q96DA0 Hs.105887 EECP;HRPE773;JCLN2;PAUF;PRO1567 OTTHUMP00000159184;endocrine and exocrine protein;jacalin-like lectin domain containing 2;pancreatic adenocarcinoma upregulated factor;zymogen granule protein 16 homolog B APPROVED protein-coding ENSG00000162078 30456 14024 VALIDATED 3418338 ZGLP1 zinc finger, GATA-like protein 1 19 19 19 p13.2 10310872 10315626 - 10276479 10281233 - 10415479 10420233 - 12477932;14702039;15057824;15489334;16982049 100125288 B5MCP8;P0C6A0 ABBA01029937;AC011511;AK096830;AMYH01009470;BC029904;BC044225;CK826281;NM_001103167 NP_001096637;P0C6A0 Hs.709296 1778718;5024640 RH48407;RH93808 FLJ39511;FLJ39703;GATAD3;GLP-1;GLP1 GATA like protein 1;GATA like protein-1;GATA zinc finger domain containing 3;GATA-like protein 1;GATA-type zinc finger protein 1;OTTHUMP00000201202;OTTHUMP00000201203 protein-coding ENSG00000220201 37245 611639 VALIDATED 1322491 ZIC2 Zic family member 2 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2008] 13 13 q32 99432320 99437020 + 100634026 100639019 + 1358247;1331525;1580863;6480464;6907045;7240710 15261827;15118671 9771712;19177455;19022413;18417618;17251188;15590697;15221788;15057823;14679585;13678579;12666207;12522805;11991713;11910512;11857562;11285244;11238441;11038359;10984499;8557628;18363970;19784848;20531442;20199689;20683983;19955556;22310223;22847929;21638761;21661123;21908606;21940735;20301702;19322201;22863734;22733541;15576338;22859937;23396134 7546 O95409 ABBA01027104;ABBA01027105;AF104902;AF188733;AF193855;AF339806;AL355338;AMYH01005330;AMYH01005331;AMYH01005332;AMYH01005333;AMYH01005334;CH471085;NG_007085;NM_007129 AAC96325;AAG28409;AAG38995;AAI72274;EAX09030;EAX09031;NP_009060;O95409 Hs.653700 1645105;1675509;1729111;1738401 D13S1086E;RH44495;RH80620;UniSTS:144841 HPE5 OTTHUMP00000018633;Zic family member 2 (odd-paired Drosophila homolog);Zic family member 2 (odd-paired homolog, Drosophila);Zinc finger protein of the cerebellum 2;zinc finger protein ZIC 2 APPROVED protein-coding ENSG00000043355 12873 04353 603073;609637 REVIEWED 5507878 ZHX1-C8ORF76 ZHX1-C8ORF76 readthrough This locus represents naturally occurring read-through transcription between the neighboring zinc fingers and homeoboxes 1 (ZHX1) and chromosome 8 open reading frame 76 (C8orf76) genes. The read-through transcript encodes a protein that shares sequence identity with the downstream gene, but it has a distinct N-terminus encoded by exon structure from the upstream gene. [provided by RefSeq, Feb 2011] 8 q 124238429 124286727 - 12477932;15342556;20967262 100533106 Q96EF9 ABBA01037869;ABBA01037870;ABBA01037871;ABBA01037872;AC018992;AC068228;AMYH01019003;BC012379;BP340117;CA424676;NM_001204180 AAH12379;NP_001191109;Q96EF9 Hs.707401 1679143 RH93745 MGC9784 OTTHUMP00000228385;ZHX1-C8orf76 protein;ZHX1-C8orf76 readthrough transcript protein;zinc fingers and homeoboxes protein 1, isoform 2 protein-coding ENSG00000259305 42975 VALIDATED 1606771 ZGPAT zinc finger, CCCH-type with G patch domain 20 20 20 q13.3 59023048 59051759 + 61809238 61837938 + 62338794 62367494 + 6480464 17081983;16952911;16344560;15489335;15489334;14702039;12477932;11780052;11347906;18758464;19623168;19644445;17207965;21102463;20233718;20549515;20936779;21297633;20811636;23128233 84619 Q96JU4 AB058750;ABBA01021416;ABBA01021417;ABBA01021418;AK027878;AK074961;AK314726;AL121845;AMYH01012090;BC019338;BC032612;CH471077;CV027894;DA055150;DA252406;DA848516;DB025637;NM_001083113;NM_001195653;NM_001195654;NM_032527;NM_181485 AAH19338;AAH32612;ADQ32718;BAB47476;BAB55426;BAC11317;EAW75220;EAW75221;EAW75222;EAW75223;EAW75224;EAW75225;EAW75226;EAW75227;EAW75228;EAW75229;NP_001076582;NP_001182582;NP_001182583;NP_115916;NP_852150;Q8N5A5 Hs.590868 1675744;1697038 RH101996;RH75350 GPATC6;GPATCH6;KIAA1847;MGC44880;RP4-583P15.3;ZC3H9;ZC3HDC9;ZIP OTTHUMP00000031593;OTTHUMP00000031594;OTTHUMP00000031595;OTTHUMP00000031596;g patch domain-containing protein 6;zinc finger CCCH domain-containing protein 9;zinc finger CCCH-type with G patch domain-containing protein;zinc finger and G patch domain-containing protein protein-coding ENSG00000197114 15948 15736 VALIDATED 6481419 ZIC4-AS1 ZIC4 antisense RNA 1 100873950 AC092959 APPROVED miscrna 40920 1320899 ZIC5 Zic family member 5 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq, Jul 2008] 13 13 13 q32.3 81459810 81468714 - 99413276 99422179 - 100615275 100624178 - 1580863;6480464 15465018;15146197;11044622;20199689;20683983;20467438 85416 Q96T25 ABBA01027107;ABBA01027108;ABBA01027109;AF378304;AI699626;AL355338;AMYH01005330;AMYH01005331;CH471085;CN304220;CS501444;JA065351;JA080695;JA177774;JA177956;JA408529;NM_033132 AAK55418;CAM83951;CCA61732;CCA63952;CCA64136;CCA64137;CCD32691;EAX09029;NP_149123;Q96T25 Hs.508570 1798330;2124406 RH11313;ZIC5_2281 OTTHUMP00000018634;Zic family member 5 (odd-paired homolog, Drosophila);zinc family member 5 protein;zinc finger protein ZIC 5;zinc finger protein of the cerebellum 5 APPROVED protein-coding ENSG00000139800 20322 15737 VALIDATED 1346071 ZHX1 zinc fingers and homeoboxes 1 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011] 8 8 q24.13 124329877 124355728 - 124260690 124287781 - 6480464 10571058;12237128;17303076;17056598;16713569;16169070;15489334;15383276;15302935;15146197;14702039;14667819;12741956;12659632;12477932;12062805;10441475;19348505;20936779;16344560;17127430;20509910;23314748;22939629;21252943;21900206;19322201;19471022;21693764 11244 E5RGB8;H0YB50;Q9UKY1 ABBA01037871;ABBA01037872;AC018992;AC068228;AF106862;AF195766;AK025236;AK094451;AK289532;AMYH01019003;BC040481;BQ008088;CA776642;CH471060;CN352595;DA238313;NM_001017926;NM_007222;NR_037873;NR_037874 AAD50624;AAF35183;AAH40481;BAF82221;EAW92027;EAW92028;EAW92029;NP_001017926;NP_009153;Q9UKY1 Hs.521800 1656761;1672240;1681626;1709954;1739245;2127208;2155648;2172057;2185275;7185581 D8S1558;G30158;RH78355;RH98926;SHGC-53839;SHGC-82245;STS-D60292;STS-T66784;WI-11363 OTTHUMP00000228386;OTTHUMP00000228389;zinc finger and homeodomain protein 1;zinc fingers and homeobox 1;zinc fingers and homeoboxes protein 1;zinc-fingers and homeoboxes 1 APPROVED protein-coding ENSG00000165156 12871 10379 604764 REVIEWED 2801999 ZIK1P1 zinc finger protein interacting with K protein 1 pseudogene 1 X X X q25 123691576 123693142 - 123134463 123136134 - 123306782 123308348 - 100131493 ABBA01036439;AL391241;AMYH01022944;NG_023003 APPROVED pseudo 38031 INFERRED 735694 ZIC1 Zic family member 1 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008] 3 3 q24 148609871 148617196 + 147127181 147134506 + 1599905;1580863;6480464 15338008 8542595;18029348;19135984;19010793;18515550;17936758;14981711;14679585;12783990;12477932;11238441;11038359;11015565;10737800;9110174;8619474;15733262;20713527;20944657;20199689;22799764;21204220;21671493;21347233 7545 H7C5D8;Q15915 ABBA01058969;ABBA01058970;AC092959;AMYH01013564;AMYH01013565;BC104848;BC104850;BF920299;CH471052;NG_015886;NM_003412;U79264 AAI04849;AAI04851;EAW78915;EAW78916;NP_003403;Q15915 Hs.598590;Hs.647962 1739911;2169150 D3S3310;D3S3492 ZIC;ZNF201 OTTHUMP00000215402;Zic family member 1 (odd-paired homolog, Drosophila);Zinc finger protein of the cerebellum 1;zic protein member 1;zinc finger protein 201;zinc finger protein ZIC 1 APPROVED protein-coding ENSG00000152977 12872 02718 600470 REVIEWED 1342946 ZHX2 zinc fingers and homeoboxes 2 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008] 8 8 q24.13 123863082 124055936 + 123793901 123986755 + 1299601;1580863;6480464 12741956 21443521;19240061;18194454;17447851;17056598;16952470;16713569;15489334;14659886;22542470;16968750;9092538;12477932;10048485;8051160;17533377;19805522;20080650;20379614;18029348;22661463;22984075;21832049;11205744;21987443;22078940;21909108;15824104 22882 H0YKA3;Q9Y6X8 AB020661;AB083653;ABBA01037860;ABBA01037861;ABBA01037862;AC016405;AC104316;AF075099;AI334237;AMYH01019003;BC042145;BM148156;CH471060;NM_014943 AAH42145;ABZ92223;BAA74877;BAC76615;EAW92012;NP_055758;Q9Y6X8 Hs.658443;Hs.743958 1338505;1648216;1714231;1721715;1748589;1749611;1750045;1764091;1766171;1851609;2134163;2134296;2136322;2151469;2154001;2163024;2186659;2187182 D8S1826;G59722;RH119894;RH16365;RH41900;RH47173;SGC34057;SGC35165;SHGC-110247;SHGC-111296;SHGC-111728;SHGC-147748;SHGC-149547;STS-AA010366;WI-12680;WI-14759;WI-16838;WI-17139 AFR1;KIAA0854;RAF AFP regulator 1;OTTHUMP00000228361;alpha-fetoprotein regulator 1;regulator of AFP;transcription factor ZHX2;zinc finger and homeodomain protein 2;zinc fingers and homeoboxes protein 2;zinc-fingers and homeoboxes 2 APPROVED protein-coding ENSG00000178764 18513 16458 609185 REVIEWED 1342474 ZHX3 zinc fingers and homeoboxes 3 This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008] 20 20 20 q12 36517656 36639406 - 39240503 39362153 - 39807089 39928739 - 1580863;6480464 16751776;19505873;12659632;18029348;17056598;16713569;15302935;14702039;14659886;12477932;12168954;11827452;11780052;9455477;8889548;21174497 23051 F5H820;F6R4Q5;F6S7L4;F6UBH9;F6UQN6;F6XGA7;F6YD28;H0Y6F5;H0YLR4;H0YMC4;H0YNY7;Q9H4I2 AB007855;AB081948;ABBA01052574;ABBA01052575;ABBA01052576;AI754653;AK090560;AK097523;AK122905;AK292415;AL022394;AL031257;AMYH01011912;AMYH01011913;AW502552;BC020258;BC047070;BC068569;BI458686;BM905948;BM980061;CH471077;DQ583641;DQ586571;DQ599687;NM_015035 AAH68569;BAA23691;BAC65211;BAF85104;EAW75987;EAW75988;NP_055850;Q9H4I2 Hs.380133 1650252;1668394;1668396;1751675;1798324;1849286;2128929;2146275;2155906;2164271;2168911;5014023;5015861;5017827;7185435;7185938 A002B15;D10S16;D13S1553;D20S526E;D20S571E;G19883;RH12290;RH12301;SHGC-105623;STS-N25688;WI-20100;Z94398;ZHX3;ZHX3_2146 KIAA0395;TIX1 OTTHUMP00000031006;triple homeobox 1;triple homeobox protein 1;zinc finger and homeodomain protein 3;zinc fingers and homeoboxes protein 3 APPROVED protein-coding ENSG00000174306 15935 10320 609598 REVIEWED 1604492 ZIK1 zinc finger protein interacting with K protein 1 19 19 19 q13.43 55139206 55147336 + 62787440 62795570 + 58095628 58103758 + 6480464 14702039;12477932;8910362 284307 F5H435;M0QYP0;M0QYQ8;M0R1S7;Q3SY52 ABBA01020805;ABBA01020806;AC003682;AK092538;AK128340;AMYH01010028;BC047299;BC103957;BC103958;BC103959;CH471135;NM_001010879 AAC24608;AAI03958;AAI03959;AAI03960;BAG52570;BAG54663;EAW72516;NP_001010879;Q3SY52 Hs.454830 1682936;2119565;2184515 RH91313;SHGC-37565;STS-N64074 MGC119699;MGC119700;MGC119701;ZNF762 zinc finger protein 762;zinc finger protein interacting with K protein 1 homolog;zinc finger protein interacting with ribonucleoprotein K APPROVED protein-coding 33104 18321 PROVISIONAL 1347201 ZIC3 Zic family member 3 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008] X X q26.2 136476012 136481925 + 136648346 136654259 + 1599909;1580863;6480464;7240710 9354794 17764085;17468179;17295247;17185387;15772651;15489334;15470371;14985256;14681828;14679585;12963115;12522805;12477932;11238441;11076863;10861288;8889548;8298651;7747776;21069353;18716025;21858219;21864452 7547 O60481 ABBA01065838;AF028706;AL035443;AMYH01023053;BC113393;BC113395;BM667189;CH471150;EU532020;NG_008115;NM_003413 AAC05594;AAI11855;AAI13394;AAI13396;ACB30403;ADR83201;EAW88447;NP_003404;O60481 Hs.111227 1781204;1798326;5017911 ZIC3;ZIC3_2181;stSG20553 HTX;HTX1;VACTERLX;ZNF203 OTTHUMP00000024142;Zic family member 3 (odd-paired homolog, Drosophila);heterotaxy 1;zinc finger protein 203;zinc finger protein ZIC 3;zinc finger protein of the cerebellum 3 APPROVED protein-coding ENSG00000156925 12874 02225 300265;306955;314390 REVIEWED 1316409 ZIC4 Zic family member 4 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009] 3 3 q24 148586527 148607097 - 147103835 147124596 - 1580863;6480464 15489334;15338008;14702039;12477932;11329013;12499499;15007130;15177559;15477575;15733262;16344560;19425501;21204220;22284968 84107 C9J6T3;C9JD04;C9JZU7;Q9BZ94 ABBA01058970;ABBA01058971;AC092959;AF332509;AK056262;AK056394;AK094286;AK124600;AK126595;AK127733;AK293981;AK294831;AMYH01013564;BC029507;BC126267;BC136339;BG208324;CH471052;DA066220;DA102161;DA106797;DA121447;DA218617;DA314072;DA411998;DA416382;DA759114;NG_009242;NM_001168378;NM_001168379;NM_001243256;NM_032153;NR_033118;NR_033119;NR_040762 AAH29507;AAI26268;AAI36340;AAK06845;ADR82934;BAC04322;BAC86605;BAG51660;BAG51696;BAG57350;BAH11898;EAW78917;EAW78918;EAW78919;NP_001161850;NP_001161851;NP_001230185;NP_115529;Q8N9L1 Hs.415766;Hs.739084 1645724;1675577;1798328;2150020;2156738;2166759;2177459;5093938;5109621 A009Z14;D3S2841E;D3S3991;G33011;RH91704;SGC30596;SHGC-31137;SHGC-77439;ZIC4_2201 FLJ42609;FLJ45833 OTTHUMP00000215404;OTTHUMP00000215406;OTTHUMP00000215407;OTTHUMP00000215408;zinc family member 4 protein HZIC4;zinc finger protein ZIC 4;zinc finger protein of the cerebellum 4 APPROVED protein-coding ENSG00000174963 20393 12340 608948 REVIEWED 1349311 ZIM2 zinc finger, imprinted 2 In human, ZIM2 and PEG3 (GeneID:5178) are two distinct genes that share a set of 5' exons and have a common promoter, and both genes are paternally expressed. Alternative splicing events connect the shared exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. This is in contrast to mouse and cow, where ZIM2 and PEG3 genes do not share exons in common, and the imprinting status of ZIM2 is also not conserved amongst mammals. Additional 5' alternatively spliced transcripts encoding the same protein have been found for the human ZIM2 gene. [provided by RefSeq, Oct 2010] 19 19 19 q13.4 54328020 54394184 - 61977732 62043887 - 57285915 57352097 - 1580863;6480464 10708526;15489334;15203203;12477932 23619 M0QXH8;M0QXI3;M0R155;Q9NZV7 ABBA01020829;AF166122;AI418432;AMYH01010022;BC104876;BC104878;BC143663;BC143664;CH471135;DC400394;NG_012989;NM_001146326;NM_001146327;NM_015363 AAF61478;AAI04877;AAI04879;EAW72475;EAW72479;NP_001139798;NP_001139799;NP_056178;Q9NZV7 Hs.731875 1667068;1669049;1734708;1788650;1852057;2106933;2170721;5094920;5122503 6115ef;D19S699E;PEG3;RH17474;RH18153;SGC34114;SHGC-32171;STS-W93046;WI-22317 ZNF656 zinc finger imprinted 2;zinc finger protein 656 APPROVED protein-coding ENSG00000269699 12875 10321 REVIEWED 1352082 ZIM3 zinc finger, imprinted 3 19 19 19 54689155 54700260 - 62337276 62348382 - 57645464 57656570 - 1580863 15489334;12477932;11543637;22505724 114026 Q6NTE1;Q96PE6 ABBA01020818;AC025588;AF365931;AMYH01010026;BC069071;BC114446;BC114503;CH471135;NM_052882 AAH69071;AAI14447;AAI14504;AAL11635;EAW72481;NP_443114;Q96PE6 Hs.348622 1765005;5015961 D15S1477;SHGC-148556 MGC138876;MGC138877;ZNF657 zinc finger imprinted 3;zinc finger protein 657 protein-coding ENSG00000141946 16366 15738 PROVISIONAL 1319105 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 6 6 6 p21 29818944 29826449 - 28320469 28327981 - 28212490 28220002 - 737633;1580863;6480464 12477932 19008334;17910948;15489334;14702039;14574404;20811636 387032 B7Z7H3;Q969J2 ABBA01038015;AK056698;AK302017;AK315783;AL022393;AMYH01016189;AY781778;BC014031;CH471081;NM_019110 AAH14031;AAV41023;ABM86659;ABW03500;BAB71258;BAG38129;BAH13609;EAX03142;EAX03143;EAX03144;NP_061983;Q969J2 Hs.44720 1699378;1767773;2150625;5015961 D15S1477;D6S2281;RH103276;STS-N35344 FLJ32136;P1P373C6;ZNF307;ZNF427;ZSCAN36;p373c6.1 OTTHUMP00000016199;p373c6.1 (novel C2H2 type zinc finger protein);zinc finger protein 307;zinc finger protein 427;zinc finger protein with KRAB and SCAN domains 4 protein-coding ENSG00000187626 13854 15768 611643 PROVISIONAL 1605808 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 16 16 16 p12.1 24027233 24048765 - 25154823 25176343 - 25247322 25268855 - 6480464 16344560;14702039;12477932 342357 H3BQ35;Q63HK3 ABBA01017123;AC008741;AK026852;AK131342;AK302399;AK303472;AMYH01007398;BC130007;BC151139;BX648785;CH471145;DB120548;NM_001012981 AAI30008;AAI51140;BAD18498;BAG63712;BAG64511;CAH56131;EAW55768;NP_001012999;Q63HK3 Hs.513451 2122778;2220258 AB052171;SHGC-60667 FLJ23199;ZNF694;ZSCAN31;ZSCAN34 zinc finger and SCAN domain containing 31;zinc finger protein 694;zinc finger protein with KRAB and SCAN domains 2 protein-coding ENSG00000155592 25677 11268 VALIDATED 1347183 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010] 7 7 7 q22 94347766 94369948 + 99451155 99473339 + 99613219 99635403 + 6480464 7557990;18029348;17081983;15489334;14702039;12693554;12690205;12477932;7486829;2288909;2014798;21832049;19471022;21693764;21906983;22505724;22797925 7586 B3KRF7;C9JRM9;E9PC66;P17029;Q96FA2 AACC02000084;ABBA01013241;ABBA01013242;AC004522;AC093619;AF454940;AK054676;AK074116;AK090495;AK091471;AK123012;AL833578;AMYH01017726;AY260738;BC011421;BC022378;BC112224;BC113697;BX640646;CH236956;CH471091;NM_003439;U09848;X52349 AAC50264;AAH11421;AAH22378;AAI12225;AAI13698;AAP83961;AAP97699;ABZ92438;ADR83332;BAB84942;BAG51411;BAG52369;BAG53848;CAA36575;CAE45792;EAL23861;EAW76612;EAW76613;NP_003430;P17029 Hs.615360 1698694;2132352;2144059;2185355;5015619;5015861;5015961;5016478;5021872;5022578;5022588;5022651;5037552;5091763;5108775;7185938 D10S16;D11S2921;D11S3114;D15S1477;D1S1423;D3S1674;D5S1597E;D7S1619;D8S2279;GDB:434012;RH102907;RH17988;SHGC-31477;ZNF139;sY3084 9130423L19Rik;KOX18;MGC138429;PHZ-37;ZNF139;ZNF36;ZSCAN33 OTTHUMP00000210079;OTTHUMP00000210080;zinc finger protein 139;zinc finger protein 36 (KOX 18);zinc finger protein KOX18;zinc finger protein with KRAB and SCAN domains 1 APPROVED protein-coding 13101 03161 601260 VALIDATED 1313974 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 6 6 6 p22.1 29924132 29940962 + 28425738 28442503 + 28317691 28336954 + 1580863;6480464 17474147;18940803;18519692;16344560;16341674;15489334;15031282;14702039;14574404;12477932;10520746;21057542;21946350;22531714;23434374 80317 Q9BRR0 ABBA01038017;ABBA01038018;AK091225;AK122790;AK313532;AL021997;AL358785;AMYH01016189;BC006118;BM762243;BT007427;CH471081;DA440043;DB214839;DN831452;NM_001242894;NM_001242895;NM_024493;U71601 AAB16813;AAH06118;AAP36095;BAG36309;BAG52311;BAG53732;EAX03157;EAX03158;NP_001229823;NP_001229824;NP_077819;Q9BRR0 Hs.380930;Hs.485004 1688843;1697590;2150893;2169439;2189651;5022200;5022588;5022651;5024413 D11S2921;D5S1597E;D6S2226;L17877;L18426;RH102305;RH63707;RH66545;RH98837 FLJ33906;KIAA0426;ZF47;ZFP306;ZNF306;ZNF309;ZSCAN13;ZSCAN35;Zfp47;dJ874C20.1;dJ874C20.1.;zfp-47 OTTHUMP00000016204;zfp-47;zinc finger and SCAN domain-containing protein 13;zinc finger protein 306;zinc finger protein 309;zinc finger protein 47 homolog;zinc finger protein with KRAB and SCAN domains 3;zinc finger protein zfp47 protein-coding 13853 11705 612791 VALIDATED 1322493 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain. A similar protein in mouse is differentially expressed in spermatogenesis. Two alternatively spliced transcript variants differing only in the 5' UTR have been described. Additional variants have been found, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q22 93836480 93865674 + 98940209 98969381 + 99102273 99131445 + 1580863;6480464 10585779;16344560;16314882;14702039;12853948;12690205;12477932;10231032;8889548;21533175;20211142;21900206;22939629 23660 B3KNK8;F8WBD4;Q9Y2L8 AACC02000084;AB023232;AB742315;AB742316;AB742317;AB742318;ABBA01013256;ABBA01013257;ABBA01013258;AC005020;AC073063;AF170025;AK027714;AK096552;AMYH01017721;BC030790;BX648490;CA311067;CH236956;CH471091;DA044307;DA580238;DA773579;NM_014569;NM_145102 AAF24219;AAH30790;AAS02018;ABZ92473;BAA76859;BAG51370;BAG53320;BAM36945;BAM36946;BAM36947;EAL23873;EAW76654;EAW76655;EAW76656;EAW76657;EAW76658;NP_055384;NP_659570;Q9Y2L8 Hs.110839 1667251;1682309;2110063;2125001;5016781 D7S2923;RH94011;SHGC-67307;WI-20768;ZFP95__4948 FLJ39233;KIAA1015;MGC33710;ZFP95;ZNF914;ZSCAN37 OTTHUMP00000210524;OTTHUMP00000210525;OTTHUMP00000210526;OTTHUMP00000210527;zfp-95;zinc finger protein 95 homolog;zinc finger protein 95 homolog (mouse);zinc finger protein homologous to Zfp95 in mouse;zinc finger protein with KRAB and SCAN domains 5 APPROVED protein-coding ENSG00000196652 12867 10318 611272 REVIEWED 1353598 ZMAT2 zinc finger, matrin-type 2 5 5 5 q31.3 136156780 136162987 + 140060216 140066423 + 140080032 140086239 + 737633;1580863;6480464;6907045 12477932 17207965;21145461;15635413;15489334;14702039;21139048;22379092 153527 Q96NC0;R4GMX9;R4GNG8 ABBA01026422;AC116353;AK055683;AMYH01015661;BC056668;CH471062;NM_144723;X97303 AAH56668;ADQ32190;BAB70983;EAW62016;EAW62017;EAW62018;NP_653324;Q96NC0 Hs.350194 1858092;2119616;2140398;2140400;2175631 A005U15;D5S2381;D5S2600;G20504;RH12406 FLJ31121;Ptg-12;Snu23;hSNU23 OTTHUMP00000159885;OTTHUMP00000223673;zinc finger matrin-type protein 2;zinc finger, matrin type 2 APPROVED protein-coding ENSG00000146007 26433 08094 PROVISIONAL 1345896 ZMAT1 zinc finger, matrin-type 1 This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] X X X q21 101657865 101707597 - 101023918 101073656 - 101137260 101187039 - 6480464 18029348;14702039;12477932;11347906;8889549;16344560;11361095;15718139;18253864;7531280 84460 A7MD47;Q5H9K5 AA101301;AA459272;AB058692;ABBA01045033;ABBA01045034;ABBA01045035;ABBA01045036;ABBA01045037;ABBA01045038;AK094141;AK296520;AL831883;AMYH01022735;BC028029;BC045706;BC140920;BC152470;CH471115;DA415774;DA824319;NG_016330;NM_001011657;NR_046008;NR_046009;Z68326;Z68868;Z69304 AAI40921;AAI52471;BAB47418;BAG59151;CAD38564;EAX02897;NP_001011657;Q5H9K5 Hs.496512 1685259;2122838;2159466;2175389 AF020182;RH39178;RH48787;SGC30659 KIAA1789;MGC176597;MGC176728 OTTHUMP00000023703;zinc finger matrin-type protein 1;zinc finger, matrin type 1 APPROVED protein-coding ENSG00000166432 29377 10029 REVIEWED 1313155 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 3 3 3 p21.32 44534728 44562986 + 44571717 44599979 + 44596713 44624975 + 6480464 16189514;15489334;14702039;12477932;7814019;1946370;1505991;20211142;21282530;21890473;23000965;22505724 55888 C9J6L6;E7EMM9;H7BZE7;Q9P0L1 ABBA01024739;ABBA01024740;AC099669;AF075093;AF154846;AK022800;AK291285;AMYH01013120;AMYH01013121;AY280798;BC010555;BC063020;BC120982;BC120983;BC127639;BC127640;BC148260;CH471055;L32164;M88372;M88373;NM_018651;NM_025169 AAA36818;AAA61330;AAA61331;AAF72104;AAH10555;AAH63020;AAI20983;AAI20984;AAI27640;AAI27641;AAI48261;AAI66704;AAQ16302;BAB14250;BAF83974;EAW64711;NP_061121;NP_079445;Q9P0L1 Hs.529512;Hs.696570 1341257;1696890;1743101;1776904;1848368;2139692;2167598 D3S3350;D3S3624;G16017;GDB:252104;SHGC-76888;STS-L32164;d01504sbk FLJ12738;ZFP;ZNF167;ZNF448;ZNF64;ZSCAN39 OTTHUMP00000164124;OTTHUMP00000164125;OTTHUMP00000209704;OTTHUMP00000209705;OTTHUMP00000209707;zinc finger protein 167;zinc finger protein 448;zinc finger protein 64;zinc finger protein with KRAB and SCAN domains 7 APPROVED protein-coding ENSG00000196345 12955 15744 VALIDATED 1319074 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 6 6 6 p21.3 29715776 29731298 + 28217695 28233215 + 28109716 28125236 + 1580863;6480464 10567577;18029348;15489334;14574404;12477932;10737800;9244436;8673473;18482256;8889548 7745 B4DYF1;Q15776 AA453245;AB208793;ABBA01038015;AK302402;AL358933;AMYH01016189;BC096282;BC096283;BC096284;BC113961;BC130032;BC152378;BM664529;BQ327604;CH471081;NM_001278119;NM_001278121;NM_001278122;NM_006298;U57796;U88078;U88079;U88080 AAB02260;AAC51656;AAH96282;AAH96283;AAH96284;AAI13962;AAI30033;AAI52379;BAD92030;BAG63713;EAX03135;EAX03136;NP_001265048;NP_001265050;NP_001265051;NP_006289;Q15776 Hs.57679 1647066;1675417;1678713;1730505;1791742;2220036;7184806 D3S587;D6S2282;PMC123025P1;RH75895;RH93794;ZNF192__4975 LD5-1;ZNF192;ZSCAN40 OTTHUMP00000016198;zinc finger protein 192;zinc finger protein with KRAB and SCAN domains 8 APPROVED protein-coding 12983 03760 602240 VALIDATED 1606216 ZMAT4 zinc finger, matrin-type 4 8 8 8 p11.21 39339870 39709569 - 40507270 40874500 - 40388109 40755343 - 6480464 17903298;14702039;12477932;21269563;21832049;23396134 79698 E5RFW2;E5RGZ7;E5RIF5;Q9H898 ABBA01015900;ABBA01015901;AC018796;AC048387;AC104864;AK023904;AMYH01018664;AMYH01018665;AMYH01018666;AMYH01018667;BC019598;CH471080;NM_001135731;NM_024645 AAH19598;BAB14719;EAW63263;EAW63264;EAW63265;NP_001129203;NP_078921;Q9H898 Hs.591850 1335532;1339924;1657193;1662150;1665325;1686386;1707016;1732613;1733994;1754875 D8S1023;D8S1104;D8S1183;D8S1817;RH18476;RH44466;SHGC-141804;SHGC-32047;SHGC-5765;SHGC-81012 FLJ13842 OTTHUMP00000225690;OTTHUMP00000225691;OTTHUMP00000225692;zinc finger matrin-type protein 4;zinc finger, matrin type 4 APPROVED protein-coding ENSG00000165061 25844 07837 VALIDATED 1315977 ZMYM1 zinc finger, MYM-type 1 1 1 1 p34.3 33818420 33854843 + 35317559 35354042 + 35544972 35581455 + 737633;6480464 12477932 16710414;14702039;20360068;19471022;21139048;21693764;21906983 79830 Q5SVZ6;Q5SVZ7;Q5SW02 ABBA01023354;ABBA01023355;AK026804;AK096206;AK125741;AK299779;AK308655;AL607089;AMYH01000487;BC037313;BX537537;BX648307;CD683862;CH471059;CR936813;NM_024772 BAB15558;BAG54241;BAG61661;CAD97777;EAX07427;EAX07428;EAX07429;EAX07430;EAX07431;NP_079048;Q5SVZ6 Hs.471243 1693144;1772973;2174002;5037552 AL034299;D8S2279;SHGC-54630;SHGC-74582 FLJ23151;FLJ43753;MYM;RP11-181E22.4 OTTHUMP00000004598;OTTHUMP00000004599;OTTHUMP00000004600;OTTHUMP00000004601;zinc finger MYM-type protein 1;zinc finger, MYM domain containing 1 protein-coding ENSG00000197056 26253 15739 VALIDATED 1602466 ZMAT3 zinc finger, matrin-type 3 This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008] 3 3 q26.32 180224196 180272278 - 178735011 178789656 - 6480464;6907045 9400996;19127773;18519039;16844115;14702039;12477932;12196512;11689294;11571644;17609381;22513872;19322201;20460684;19394292;20962082;17207965;16344560;19805223;21050045;23085987;23158102;21559779;21832049;12840015 64393 C9J8H5;Q9HA38 ABBA01058546;ABBA01058547;AC117456;AF355465;AK022358;AK056245;AK122768;AMYH01013683;AMYH01013684;AMYH01013685;AY037945;BC002896;BC036485;CH471052;DA001239;NM_022470;NM_152240 AAH02896;AAK71491;AAK83287;ADQ31910;BAB14020;BAG53718;EAW78424;EAW78425;EAW78426;NP_071915;NP_689426;Q9HA38 Hs.371609 1648811;1676546;1773312;1775454;2132257;2185335;5014051;5022200;5022651;5037552 D11S2921;D8S2278;D8S2279;L18426;RH11538;RH12069;RH46457;SHGC-77566;SHGC-77580;STS-D20222 FLJ12296;FLJ31683;MGC10613;PAG608;WIG-1;WIG1 OTTHUMP00000211906;OTTHUMP00000211907;WIG-1/PAG608 protein;p53 target zinc finger protein;p53-activated gene 608 protein;zinc finger matrin-type protein 3;zinc finger protein WIG-1;zinc finger protein WIG1;zinc finger, matrin type 3 APPROVED protein-coding ENSG00000172667 29983 07343 606452 REVIEWED 6481034 ZMYM2-IT1 ZMYM2 intronic transcript 1 (non-protein coding) 100874320 AL138688 miscrna 39936 1607019 ZMAT5 zinc finger, matrin-type 5 22 22 22 cen-q12.3 13926672 13962699 - 28456945 28492969 - 30126945 30162969 - 6480464 15146077;18029348;15489334;15461802;12477932;9847074;7566098 55954 Q9UDW3 AA312132;ABBA01055277;AC004882;AK292671;AL160311;AMYH01012702;BC009717;BG285784;BK005198;BU598307;CH471095;CR456353;CR457393;NM_001003692;NM_019103 AAH09717;ACE86640;ACE87322;BAF85360;CAB77284;CAG30239;CAG33674;CAK54494;CAK54793;DAA05496;EAW59837;EAW59838;NP_001003692;NP_061976;Q9UDW3 Hs.713647 1682846 RH45735 SNRNP20 OTTHUMP00000199701;U11/U12 small nuclear ribonucleoprotein 20 kDa protein;U11/U12 snRNP 20 kDa protein;U11/U12 snRNP 20K;U11/U12-20K;zinc finger matrin-type protein 5;zinc finger, matrin type 5 APPROVED protein-coding ENSG00000100319 28046 14247 VALIDATED 7240886 ZMIZ1-AS1 ZMIZ1 antisense RNA 1 10 q22.3 80703083 80827205 - 12477932;14702039;8889548 283050 ABBA01020214;ABBA01020215;ABBA01020216;AK097923;AK098249;AK126302;AL356753;AL450398;AMYH01002854;BC102000;BC102001;BC105703;BX116874;CB306489;NR_015429;NR_024429;NR_024431 Hs.309176 1298280;1677538;1680583 D10S2327;RH80583;RH99322 miscrna ENSG00000224596 27433 VALIDATED 5686925 ZMYM4-AS1 ZMYM4 antisense RNA 1 p34.3 11329013 100861513 AL356362;BG187713;BG208679 Hs.585397 APPROVED miscrna 40624 1323172 ZMIZ1 zinc finger, MIZ-type containing 1 This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010] 10 10 q22.3 80631347 80746279 + 80828792 81076285 + 6480464 16777850;18007576;17967885;17584785;17512505;22482804;12477932;12421765;10737800;10574462;9110174;8889548;8619474;14702039;14609956;16385451;18711365;19525953;19795399;19879194;19915574;19929986;20159969;20190752;20379614;20473688;21102463;20453838;20526339;23161489;21890473;22190364;21833088;20881960;20467438;23128233;23453885;23468962;15626329 57178 A0JLS3;B4DSG4;Q9ULJ6 AB033050;ABBA01020212;ABBA01020213;ABBA01020214;AF070622;AF357909;AK023603;AK024490;AK025812;AK299728;AL049432;AL356753;AL358782;AL391665;AL539520;AMYH01002857;AMYH01002858;AMYH01002859;AY235683;BC007288;BC025342;BC035890;BC049845;BC068072;BC117687;BE082814;BX644960;CD657106;CF137779;CF264960;CH471083;NG_028289;NM_020338 AAH07288;AAH25342;AAI17688;AAI72361;AAP13542;AAQ15173;BAA86538;BAB15780;BAG61626;EAW54639;EAW54640;EAW54641;EAW54642;EAW54643;EAW54644;NP_065071;Q9ULJ6 Hs.193118 1337840;1338095;1338976;1657000;1716123;1730978;1730994;1736102;1739991;1754355;1755035;1758843;1759025;1766791;1767315;1777474;1846678;2137359;5014051;5015619;5015621;5021872;5022651;5037552;7186256 D10S1317E;D10S1379E;D10S1625;D10S1667;D10S201;D10S219;D10S267;D10S333;D11S2921;D11S3114;D11S3732;D8S2278;D8S2279;G28392;RH121026;RH47546;RH68569;RH70293;SHGC-132377;SHGC-141981;SHGC-151018;SHGC-151109;SHGC-152112;sY3084 FLJ13541;KIAA1224;MIZ;RAI17;TRAFIP10;Zimp10;hZIMP10 FLJ00092 protein;OTTHUMP00000019922;RP11-519K18.1;retinoic acid induced 17;zinc finger MIZ domain-containing protein 1;zinc finger-containing, Miz1, PIAS-like protein on chromosome 10 APPROVED protein-coding ENSG00000108175 16493 12115 607159 REVIEWED 1605930 ZMIZ2 zinc finger, MIZ-type containing 2 ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010] 7 7 7 p13 44887383 44908331 + 44755055 44776005 + 44788530 44809480 + 6480464 16051670;16189514;15489334;14702039;12853948;12690205;12477932;11572484;11230166;9853615;9847074;17584785;20159969;18029348;19471022 83637 C9JDA5;E7EWM3;F8WC48;Q96Q01 AACC02000110;AB015330;AB067473;ABBA01058232;ABBA01058233;AC004859;AC013436;AF357908;AK057115;AK057378;AK090415;AK090841;AK097263;AK128359;AK301932;AL136572;AL831933;AMYH01017214;AY426594;BC008049;BC016968;BC021924;BC110435;BC131780;BI115680;CD367243;CH236960;CH471128;NM_031449;NM_174929 AAH21924;AAI10436;AAI31781;AAP22367;AAP22368;AAQ15172;AAR85526;BAA34789;BAB67779;BAC03396;BAG52237;BAG63352;CAB66507;CAH56269;EAL23750;EAW61083;EAW61084;EAW61085;NP_113637;NP_777589;Q8NF64 Hs.600681;Hs.77978 1335470;2118391;2126921;2153047;7187916 D7S1488;RH70053;RH70368;RH78363 DKFZp761I2123;KIAA1886;NET27;TRAFIP20;ZIMP7;hZIMP7 OTTHUMP00000208713;OTTHUMP00000208714;OTTHUMP00000208715;OTTHUMP00000208716;PIAS-like protein Zimp7;zinc finger MIZ domain-containing protein 2 APPROVED protein-coding ENSG00000122515 22229 13225 611196 VALIDATED 1313677 ZMPSTE24 zinc metallopeptidase STE24 This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008] 1 1 p34 40496320 40532443 + 40723722 40759856 + 1599910;1580863;6480464;7240710 12913070 14702039;10373325;18029348;19383993;19351612;18435794;18230615;17352743;17152860;16710414;16671095;16344560;16303743;16297189;15843403;15671064;15489334;15317753;12477932;10076063;9700155;19913121;20628086;19453269;19645629;19680556;19841875;20101687;20635340;20550970;20814950;21108632;22718200;22939629;21906983;21139048;21890473;17342744;21724554;19322201;21963094;23000965;23539603;22936788;22053931 10269 O75844 AA436253;AB016068;ABBA01023179;ABBA01023180;AF064867;AI003768;AK027874;AK074784;AK075007;AL050341;AMYH01000533;AMYH01000534;BC037283;CH471059;CQ782720;CQ782995;DA398037;DB096663;DB285015;NG_008695;NM_005857;Y13834 AAC68866;AAH37283;ABW03365;ABW03708;BAA33727;BAG51388;BAG52049;CAB46277;CAF85955;CAF86212;EAX07233;EAX07234;NP_005848;O75844 Hs.132642;Hs.721062 1666009;1673279;1679217;1788788;2114388;2136023;2154056;2176689 A002U36;AL009542;D1S1868E;RH135308;RH93804;SHGC-34567;SHGC-74699;SHGC-74731 FACE-1;FACE1;FLJ14968;HGPS;PRO1;STE24;Ste24p CAAX prenyl protease 1 homolog;Hutchinson-Gilford progeria syndrome;OTTHUMP00000006394;farnesylated proteins-converting enzyme 1;farnesylated-proteins converting enzyme 1;prenyl protein-specific endoprotease 1;zinc metallopeptidase STE24 homolog;zinc metalloproteinase Ste24 homolog APPROVED protein-coding ENSG00000084073 12877 07349 275210;606480;608612 REVIEWED 1319940 ZMYM4 zinc finger, MYM-type 4 1 1 1 p32-p34 34008550 34161857 + 35507155 35660132 + 35734568 35887545 + 1580863;6480464 10449923;10486218;15302935;12477932;12356764;9455477;8889548;21145461;18806873;19615732;19394292;20360068;19471022;21139048;21693764;21890473;21906983 9202 H7C1I7;Q5VZL5 AB007885;ABBA01023341;ABBA01023342;ABBA01023343;ABBA01023344;ABBA01023345;ABBA01023346;AK308320;AK309705;AL160000;AL356362;AL590434;AMYH01000490;BC012093;BC127113;BC127114;BG499626;BU683493;BX647376;BX648067;CD653525;CH471059;CR936741;NM_005095 AAH12093;AAI27114;AAI27115;BAA24855;EAX07417;EAX07418;EAX07419;NP_005086;Q5VZL5 Hs.269211 1659407;1660183;1665963;1696742;2135678;2175120 1570;AL010039;SHGC-74567;SHGC-74568;SHGC-74595;SHGC-77926 CDIR;DKFZp686B09210;DKFZp686L0547;KIAA0425;MYM;ZNF198L3;ZNF262 OTTHUMP00000004427;OTTHUMP00000004429;cell death inhibiting RNA;zinc finger MYM-type protein 4;zinc finger protein 262 protein-coding ENSG00000146463 13055 10326 613568 VALIDATED 6481161 ZMYND10-AS1 ZMYND10 antisense RNA 1 100874210 AC002481 APPROVED miscrna 40890 1343268 ZMYM5 zinc finger, MYM-type 5 13 13 13 q12 1459413 1499564 - 19309593 19335773 - 20397624 20437776 - 1580863;6480464 15489334;15057823;12477932;11042152;10894931;17126306;20036849;15231748;21832049;22318606 9205 H0YH25;Q9UJ77 ABBA01068566;ABBA01068567;ABBA01068568;AF161535;AJ133352;AJ133353;AJ133354;AJ133355;AK312724;AL354808;AL355001;AMYH01004942;BC007048;BI561630;BT006687;BU853478;BX647750;CH471075;NM_001039649;NM_001039650;NM_001142684 AAF29022;AAH07048;AAP35333;BAG35598;CAB57262;CAB57263;CAB57264;CAB57265;EAX08235;EAX08236;EAX08237;EAX08238;EAX08239;EAX08240;EAX08241;NP_001034738;NP_001034739;NP_001136156;Q9UJ78 Hs.530988 1701604;2171388;5022578;5022651 D11S2921;D1S1423;RH104440;SHGC-33087 HSPC050;MYM;ZNF198L1;ZNF237 OTTHUMP00000018080;OTTHUMP00000018081;OTTHUMP00000018082;OTTHUMP00000240349;zinc finger MYM-type protein 5;zinc finger protein 198-like 1;zinc finger protein 237 protein-coding ENSG00000132950 13029 VALIDATED 1317868 ZMYM2 zinc finger, MYM-type 2 The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010] 13 13 q11-q12 19430810 19558939 + 20532810 20665968 + 1580863;6480464 9425908;9576949;18806873;17471537;17389761;17027752;16964243;16381901;15588942;15489336;15489334;15302935;15231748;15057823;14651998;12776193;12594223;12493763;12477932;11256614;11230166;11076863;10643154;10480903;9889006;9716603;9694738;9499416;8889548;18391013;15975576;19506298;19658100;20379614;20936779;14660670;16079794;16140033;19394292;20211142;21480320;21252943;20360068;21139048;19322201;22939629;22505724 7750 B4DZH0;Q5W0Q3;Q63HP0 ABBA01068573;ABBA01068574;AF012126;AF035374;AF060181;AJ007676;AJ224901;AK226118;AK289741;AK302917;AK310505;AL136621;AL137119;AL138688;AMYH01004942;BC036372;BI460760;BM724534;BX643074;BX647944;BX648905;CH471075;NG_023348;NM_001190964;NM_001190965;NM_003453;NM_197968;Y13472 AAB88464;AAC01561;AAC23591;AAH36372;ACE86558;ACE87240;BAF82430;BAG64082;CAA07604;CAA12204;CAA73875;CAB66556;CAH56193;CAL38411;CAL38487;EAX08243;EAX08244;EAX08245;EAX08246;EAX08247;EAX08248;NP_001177893;NP_001177894;NP_003444;NP_932072;Q9UBW7 Hs.507433 1648232;1651114;1670573;1681215;1688532;1698520;1700208;1739247;1748427;1856356;1858374;2117819;2137049;2157118;2160832;2171609;2176303 D13S1114;D13S177E;D5S1767;G23181;G64215;RH102811;RH103720;RH44888;RH45633;RH46119;RH47132;RH47151;RH71416;RH80418;RH98442;SHGC-64024;STS-H72847 FIM;MYM;RAMP;SCLL;ZNF198 OTTHUMP00000018086;OTTHUMP00000018088;fused in myeloproliferative disorder;fused in myeloproliferative disorders protein;rearranged in an atypical myeloproliferative disorder;rearranged in atypical myeloproliferative disorder protein;zinc finger MYM-type protein 2;zinc finger protein 198 APPROVED protein-coding ENSG00000121741 12989 03745 602221 REVIEWED 1350026 ZMYM3 zinc finger, MYM-type 3 This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked mental retardation. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2010] X X X q13.1 70813352 70828925 - 70376199 70391148 - 70459474 70475047 - 1580863;6480464 10486218;18029348;17081983;15790807;15489334;15302935;12838571;12493763;12477932;10662551;9205841;8817323;16344560;8889548;16079794;20562864;21832049;22939629;22586326;20360068;21987572;21139048;21890473;21906983;21252943;22505724 9203 A6NC58;A6NHB5;A6NHN7;A6NL54;A8K3Z7;Q14202 AB002383;ABBA01067689;ABBA01067690;ABBA01067691;ABBA01067692;ABBA01067693;ABBA01067694;ABBA01067695;ABBA01067696;ABBA01067697;ABBA01067698;AK290762;AL590762;AMYH01022534;AY927528;BC013009;BC069057;BT007095;CB305871;CH471132;DA331402;DA539831;NG_016407;NM_001171162;NM_001171163;NM_005096;NM_201599;X95808 AAH13009;AAH69057;AAP35759;BAA20839;BAF83451;CAA65075;EAX05301;EAX05302;EAX05303;NP_001164633;NP_001164634;NP_005087;NP_963893;Q14202 Hs.522684 1675802;1681088;1767353;1770309;1793436;1793438;2118815;2135378;2191285 DXS7119;MARC_17083-17084:1023819377:2;PMC22091P4;PMC22091P5;RH1704;RH79687;RH98882;STS-X95808;WI-20232 DXS6673E;KIAA0385;MYM;XFIM;ZNF198L2;ZNF261 OTTHUMP00000023514;OTTHUMP00000023515;OTTHUMP00000023516;OTTHUMP00000023517;OTTHUMP00000023518;OTTHUMP00000023519;OTTHUMP00000023520;zinc finger MYM-type protein 3;zinc finger protein 261 APPROVED protein-coding ENSG00000147130 13054 02088 300061 REVIEWED 1345857 ZMYM6 zinc finger, MYM-type 6 1 1 1 p34.2 33725368 33771050 - 35224353 35270156 - 35451766 35497569 - 1580863;6480464 10486218;15489334;14702039;12477932;10718198;11884399;11282025;18029348;19615732;23533661;19471022 9204 Q7L9K1;Q9NWF1 AB037774;ABBA01023356;ABBA01023357;ABBA01023358;ABBA01023359;AC114490;AK000927;AK092067;AK299293;AK301461;AK310703;AK310938;AL389985;AL607089;AL705390;AL832911;AL833263;AMYH01000487;AV734109;BC007070;BC033903;BC043174;BC068534;BC107880;BC117463;BT007117;CH471059;NM_007167 AAH33903;AAH68534;AAI07881;AAI17464;AAP35781;BAA91430;BAA92591;BAG61308;BAG62982;CAH10638;EAX07433;NP_009098;O95789 Hs.533986;Hs.623978;Hs.729053 1682790;5016478;5037552;5109281 D1S1425;D8S2279;GDB:434012;RH98570 Buster2;MYM;ZNF198L4;ZNF258 OTTHUMP00000004335;OTTHUMP00000219405;transposon-derived Buster2 transposase-like protein;zinc finger MYM-type protein 6;zinc finger protein 258;zinc finger, MYM-type containing 6 protein-coding ENSG00000163867 13050 10325;17494 613567 VALIDATED 7174893 ZMYND19P1 zinc finger, MYND-type containing 19 pseudogene 1 14 78163112 78163707 + 100421055 ABBA01030646;AC008044;AMYH01005884;NG_027392 pseudo 44540 INFERRED 5132761 ZMYM6NB ZMYM6 neighbor 1 1 p34.3 33720736 33724550 - 35447127 35450948 - 6480464 11181995;12477932 100506144 Q8NCS4 AA846430;ABBA01023359;AC114490;AK129824;AMYH01000487;BC029439;BU076143;CH471059;CS488910;DB447268;NM_001195156 AAH29439;CAM55984;EAX07432;NP_001182085;Q8NCS4 Hs.533986 1682790 RH98570 FLJ26314 OTTHUMP00000004330;ZMYM6 neighbor protein;hypothetical protein LOC100506144;uncharacterized protein ZMYM6NB protein-coding ENSG00000243749 40021 VALIDATED 1343481 ZNF1 zinc finger protein 1 (A11-500) 7548 12878 1320408 ZMYND15 zinc finger, MYND-type containing 15 This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] 17 17 17 p13.2 4658522 4664613 + 4590086 4596157 + 4643310 4649414 + 1580863;6480464 12477932;11230166;20675388 84225 Q9H091 AA937353;ABBA01054772;AC091153;AK302181;AK310469;AL136893;AMYH01008042;BC067296;BC090874;BC136407;CH471108;DB453494;NM_001136046;NM_001267822;NM_032265 BAG63547;CAB66827;EAW90414;EAW90415;NP_001129518;NP_001254751;NP_115641;Q9H091 Hs.47223;Hs.742549 1689795 RH93735 DKFZp434N127 OTTHUMP00000115952;zinc finger MYND domain-containing protein 15;zinc finger, MYND domain containing 15 APPROVED protein-coding ENSG00000141497 20997 15741 614312 REVIEWED 1606319 ZMYND11 zinc finger, MYND-type containing 11 The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] 10 10 p14 170643 290577 + 180405 300577 + 6480464 7621829;17721438;16565076;16382137;16344560;16300738;15231748;15164054;14651845;12894593;12477932;11733528;11148209;10734313;9663660;8889548;12659632;11244510;18029348;19766626;19795416;20138174;20425112;17567985;20211142;20732415;17000644;19322201 10771 B0QZE2;B7Z2J6;B7Z3Z1;E7ENI9;E7EV75;E9PE09;F5H449;J3QKD2;Q5BJG6;Q5UGI2;Q5VUI0;Q5VUI1 ABBA01035276;ABBA01035277;ABBA01035278;ABBA01035279;AI031881;AI244299;AK294469;AK294781;AK296427;AK296518;AK312570;AL589988;AL603831;AL713922;AL731539;AMYH01001961;AY732489;BC012586;BC034784;BC091489;BP873033;BU680177;CB241408;CF137216;CH471072;DB236591;DB521520;DC376390;DQ335452;DQ335453;DQ335454;DQ335455;NG_029960;NM_001202464;NM_001202465;NM_001202466;NM_001202467;NM_001202468;NM_006624;NM_212479;X86098 AAH12586;AAH34784;AAH91489;AAV33128;ABC72408;ABC72409;ABC72410;ABC72411;ABM82243;ABM85427;BAG35465;BAH11779;BAH11882;BAH12348;BAH12377;CAA60052;EAW86539;EAW86540;EAW86541;EAW86542;NP_001189393;NP_001189394;NP_001189395;NP_001189396;NP_001189397;NP_006615;NP_997644;Q15326 Hs.292265;Hs.740145 1335224;1663358;1672931;1681630;1736064;1767224;1787888;1797332;1850299;2116347;2117788;2143701;2163659;7187633 BS69_1838;D10S1340E;D10S1865;D10S249;G06312;G22469;G26357;RH45885;RH80240;SHGC-173566;SHGC-53435;STS-N33522;UniSTS:25682 BRAM1;BS69;MGC111056;RP11-486H9.1 BS69 variant 1;BS69 variant 2;BS69 variant 3;BS69 variant 4;OTTHUMP00000018935;OTTHUMP00000018936;OTTHUMP00000018937;OTTHUMP00000197455;OTTHUMP00000197456;adenovirus 5 E1A binding protein;adenovirus 5 E1A-binding protein;bone morphogenetic protein receptor-associated molecule 1;zinc finger MYND domain-containing protein 11;zinc finger, MYND domain containing 11 APPROVED protein-coding ENSG00000015171 16966 09830 608668 REVIEWED 1351816 ZMYND10 zinc finger, MYND-type containing 10 3 3 p21.3 50353541 50358160 - 50378537 50383156 - 1580863;6480464 16189514;11256614;18616639;16641997;16381901;15540210;15489336;15489334;15122337;14702039;12794757;12629521;12477932;11230166;11085536;11076863;8125298;22349239;20394502;20877461;22766745;22246278;21988832 51364 B3KU54;C9JUQ8;F2Z3M9;O75800 AB209621;ABBA01024549;ABBA01024550;AC002481;AK058135;AK093455;AK096525;AK223343;AK308086;AK315123;AL833828;AMYH01013170;AMYH01013171;BC022186;BC033732;BE500984;CH471055;NG_023270;NM_015896;U70824;U70880 AAB67311;AAC24726;AAC24728;AAH33732;BAD92858;BAD97063;BAG53316;CAD38688;CAL37695;CAL38065;EAW65103;EAW65104;EAW65105;NP_056980;O75800 Hs.526735;Hs.627171 2154909 SHGC-56838 BLU;FLU OTTHUMP00000210879;OTTHUMP00000210880;OTTHUMP00000210881;protein BLu;zinc finger MYND domain-containing protein 10;zinc finger, MYND domain containing 10 protein-coding ENSG00000004838 19412 06145 607070 VALIDATED 7204954 ZNF101P1 zinc finger protein 101 pseudogene 1 10 28628206 28629979 - 100419867 ABBA01034378;AC022021;AMYH01002208;NG_025421 pseudo 44940 INFERRED 7205172 ZNF101P2 zinc finger protein 101 pseudogene 2 1 q31.2 192962553 192963915 - 730190 ABBA01027636;AL136370;AMYH01001593;NG_022749 pseudo 44942 INFERRED 1344186 ZNF107 zinc finger protein 107 (Y8) 7660 C9JSF9 1671052;1677374;1679704;1680683;1719369;1790187;2117090;2133759 A008B28;D7S3260;GDB:1317884;RH123412;RH40793;RH68078;RH93588;SHGC-33722 12887 603989 1316209 ZMYND12 zinc finger, MYND-type containing 12 1 1 1 p34.2 41177939 41203877 - 42668681 42694514 - 42896000 42921938 - 6480464 11256614;15489334;14702039;12477932;11230166;16710414 84217 B4DX70;E9PFV0;Q9H0C1 ABBA01023132;ABBA01023133;AK057384;AK301839;AL136858;AL445669;AL513331;AMYH01000550;BC024186;BQ441452;CH471059;NM_001146192;NM_032257 AAH24186;ABM82548;ABM85739;ACE86579;ACE87264;BAB71461;BAG63282;CAB66792;EAX07159;EAX07160;NP_001139664;NP_115633;Q9H0C1 Hs.294009 1675885;1787504 RH99085;SHGC-155430 DKFZp434N2435 OTTHUMP00000008434;zinc finger MYND domain-containing protein 12 protein-coding ENSG00000066185 21192 15740 VALIDATED 1344106 ZNF114P1 zinc finger protein 114 pseudogene 1 21 21 q11.2 14132974 14133540 + 15211051 15212115 + 100132509;387493 ABBA01057063;AL109748;AMYH01012135;CH878733;NG_023336 EAW57524 pseudo 23771 VALIDATED 1348531 ZNF115 zinc finger protein 115 (Y20) 7668 12895 1350257 ZNF116 zinc finger protein 116 (Y21) 7669 12896 1350989 ZNF101 zinc finger protein 101 Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 2010] 19 19 19 p13.11 19683733 19695212 + 19640663 19652138 + 19779663 19791138 + 737633;1580863;6480464 12477932 17081983;16189514;14727140;14702039;11441184;8467795;20864672;19060911;22359512 94039 K7EN16;K7ENV8;Q0VDG9;Q504T0;Q8IZC7 ABBA01051339;AC011458;AK097169;AL096747;AMYH01009610;AY149174;BC011502;BC094808;BC119680;BC119681;CH471106;NM_033204 AAH11502;AAH94808;AAI19681;AAN46749;BAG53429;CAB46422;EAW84855;EAW84856;EAW84857;NP_149981;Q8IZC7 Hs.631642 1852585;5015619;5037552;5109281;5109663 D11S3114;D1S1425;D7S2067E;D8S2279;SHGC-52451 DKFZp570I0164;HZF12;MGC149565;MGC149566 OTTHUMP00000236681;zinc finger protein 101;zinc finger protein 101 (Y2);zinc finger protein 12;zinc finger protein HZF12 APPROVED protein-coding 12881 11963 603983 PROVISIONAL 1345056 ZNF11A zinc finger protein 11a (KOX 2) 1580863 8464732 7557 P17013 X68686 12900 1351916 ZNF11B zinc finger protein 11b (KOX 2) 1580863 1639412 7558 Q06732 AJ491697;NM_006955 12901 1354323 ZNF100 zinc finger protein 100 19 19 19 p12 21739120 21782699 - 21697408 21742163 - 21906843 21950430 - 737633;1580863;6480464 12477932 16344560;15489334;15146197;8467795;22505724 163227 M0R071;M0R0Q1;Q8IYN0 ABBA01051393;AC092364;AK126551;AK308798;AMYH01009636;BC031248;BC035579;BX640982;CH471106;CN302052;DA241750;NM_173531 AAH31248;AAH35579;CAE45992;EAW84905;EAW84906;NP_775802;Q8IYN0 Hs.365142 2220430;2220626;5015881;5024761;5037552;7186918 D8S2279;ERV3;GDB:335751;RH36905;UniSTS:481985;UniSTS:486333 FLJ44587 zinc finger protein 100;zinc finger protein 100 (Y1) protein-coding 12880 10359 603982 VALIDATED 1353400 ZMYND19 zinc finger, MYND-type containing 19 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008] 9 9 9 q34.3 111000209 111008592 - 139596352 139604758 - 140476531 140484937 - 1580863;6480464 16189514;16039987;15489334;12477932;12208518;18029348;19322201 116225 Q96E35 ABBA01022777;AJ298882;AL365502;AMYH01021911;AMYH01021912;AMYH01021913;AMYH01021914;AX766496;BC012948;BU147462;CH471090;NM_138462 AAH12948;ABM85574;CAC16691;CAE00329;EAW88402;NP_612471;Q96E35 Hs.128096 2149365;2149367 A005M05;G20324 MIZIP;RP11-48C7.4 MCH-R1-interacting zinc finger protein;OTTHUMP00000022706;melanin-concentrating hormone receptor 1 interacting zinc-finger protein;melanin-concentrating hormone receptor 1-interacting zinc finger protein;zinc finger MYND domain-containing protein 19 APPROVED protein-coding ENSG00000165724 21146 15743 611424 VALIDATED 1346874 ZNF123P zinc finger protein 123, pseudogene 11 11 q24.3 126333827 126335239 - 129165098 129166510 - 1580863 1992479;1339395 100188891 ABBA01023019;AMYH01004124;AP002886;NG_008436;S52506 AAB24880 1677458;7185398 D11S1003 HZF-1;ZNF123 APPROVED pseudo 12906 194630 INFERRED 1342983 ZNF121 zinc finger protein 121 19 19 19 p 9571743 9590665 - 9537292 9556209 - 9676292 9695209 - 6480464 15146197;12934113;8468057;17314511;21890473;22990118;22505724 7675 K7EPQ9;K7EQI1;P58317 ABBA01029970;ABBA01029971;AC008567;AC008759;AK297919;AMYH01009461;AU253046;CH471106;CN360954;CN360955;M99593;NM_001008727 AAI72258;AAI72553;BAG60237;EAW84042;NP_001008727;P58317 Hs.501537 1647896;1741835;5015961;5037552 D15S1477;D8S2279;GDB:185476;RH66019 D19S204;ZHC32;ZNF20 zinc finger protein 121;zinc finger protein 121 (clone ZHC32);zinc finger protein 20 protein-coding ENSG00000197961 12904 15952 194628 VALIDATED 1354391 ZNF125 zinc finger protein 125 q23.1-q23.2 1580863;6480464 1339395 7679 S52508 AAB24882;P35274 HZF-3;HZF3 protein-coding 12908 1352717 ZNF126 zinc finger protein 126 q13.3-q13.4 1580863 1339395 7680 S52507 AAB24881;P35275 HZF-2;HZF2 protein-coding 12909 1347064 ZNF13 zinc finger protein 13 (KOX 5) 1580863 7560 P17016 X52336 12913 1342937 ZNF10 zinc finger protein 10 The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008] 12 12 12 q24.33 133407511 133436350 + 132217287 132246124 + 133707214 133736051 + 1580863;6480464 15489334;12477932;11405226;10748030;9278146;9016654;8262519;7865130;7649249;2288909;2014798;20176155;18029348;16904636;21170338;17043677;10022127;10653693;17512541;8769649 7556 F5GZ75;F5H0R3;F5H311;F5H6S6;F5H8F6;F8WD46;P21506;Q9UG14 ABBA01042528;ABBA01042529;AC026786;AI972895;AK314784;AL110188;AMYH01004923;BC024182;BE895826;CH471218;NM_015394;X52332 AAH24182;ABZ92247;BAG37318;CAA36558;CAB53668;EAW54790;EAW54791;EAW54792;NP_056209;P21506 Hs.744089 1661644;1691228;1774587;2109007;2187398 RH81094;STS-H65839;STS-R02295;STS-R81342;ZNF10_7906 KOX1 OTTHUMP00000237407;OTTHUMP00000237409;OTTHUMP00000237410;OTTHUMP00000237411;zinc finger protein 10;zinc finger protein 10 (KOX 1);zinc finger protein KOX1 APPROVED protein-coding ENSG00000256223 12879 01923 194538 REVIEWED 1351865 ZNF114 zinc finger protein 114 19 19 19 q13.33 45639894 45656094 + 53466466 53482675 + 48774654 48790863 + 6480464 8467795;12477932 163071 M0QXN8;M0R0H2;M0R0V4;Q8NC26 ABBA01033006;ABBA01033007;AC008392;AK075062;AK291575;AMYH01009900;BC014935;BC016811;BC034032;BC050996;BC125068;BC125069;CH471177;CQ783060;NM_153608 AAH34032;AAI25069;AAI25070;BAC11378;BAF84264;CAF86265;EAW52326;NP_705836;Q8NC26 Hs.511883 1789468;2110563;5015619;5021872;5022578;5022651;5037552;5109281 D11S2921;D11S3114;D1S1423;D1S1425;D8S2279;G68141;MGC17986__7682;sY3084 MGC149700;MGC17986 zinc finger protein 114;zinc finger protein 114 (Y18) protein-coding ENSG00000178150 12894 14463 603996 PROVISIONAL 1319938 ZMYND8 zinc finger, MYND-type containing 8 The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 42552068 42699142 - 45271788 45418881 - 45838381 45985474 - 1580863;6480464 17081983;16147992;16713569;15302935;15231748;15095401;14702039;15489334;12477932;11780052;11149944;11003709;10574461;10469140;8125298;12775419;19913121;20628086;16565076;22939629;20133760;21900206;19471022;21693764;21890473;21988832;23000965;23667531;23752268 23613 B7ZM62;F5H0X3;H7C0U2;H7C4X9;J3KPU3;Q2HXV1;Q2HXV3;Q5TH07;Q5TH08;Q5TH12;Q9H1F4 AB032951;ABBA01052692;ABBA01052693;ABBA01052694;ABBA01052695;ABBA01052696;ABBA01052697;AF144233;AF233453;AF273045;AF454056;AI275390;AK000275;AK001175;AK026151;AK074262;AK098067;AK122966;AK225857;AK294511;AK295747;AK299899;AK309228;AL031666;AL049540;AL137703;AL390212;AMYH01011946;BC030721;BC092432;BC136608;BC144289;BC146802;BI553958;BX095755;BX641005;CH471077;DC362133;DQ082998;DQ082999;DQ368669;DQ368670;DQ368671;DQ368672;DQ368673;DQ368674;DQ368675;DQ368676;DQ368677;DQ368678;DQ368679;DQ368680;DR422399;NM_001281769;NM_001281771;NM_001281772;NM_001281773;NM_001281774;NM_001281775;NM_001281776;NM_001281777;NM_001281778;NM_001281779;NM_001281780;NM_001281781;NM_001281782;NM_001281783;NM_001281784;NM_012408;NM_183047;NM_183048;U48251 AAC72244;AAF06063;AAF71262;AAG34905;AAH30721;AAH92432;AAI36609;AAI44290;AAI46803;AAL50790;AAY85630;AAY85631;ABC86680;ABC86681;ABC86682;ABC86683;ABC86684;ABC86685;ABC86686;ABC86687;ABC86688;ABC86689;ABC86690;ABC86691;BAA86439;BAG53824;BAH11794;BAH12176;BAH13166;CAE46008;CAI23168;CAI23169;CAI46211;EAW75703;EAW75704;EAW75705;EAW75706;EAW75707;EAW75708;EAW75709;EAW75710;EAW75711;EAW75712;EAW75713;EAW75714;EAW75715;NP_001268698;NP_001268700;NP_001268701;NP_001268702;NP_001268703;NP_001268704;NP_001268705;NP_001268706;NP_001268707;NP_001268708;NP_001268709;NP_001268710;NP_001268711;NP_001268712;NP_001268713;NP_036540;NP_898868;NP_898869;Q9ULU4 Hs.446240;Hs.658553;Hs.668465 1335563;1653674;1656300;1667492;1667641;1668800;1681137;1686106;1740105;1847436;2117403;2130059;2131599;2133333;2142516;2155838;2165530 D20S1104;D20S692;D20S764;D20S770;D20S891;G18078;RH16216;RH36015;RH66080;RH98433;RH98976;SGC34777;SHGC-32648;STS-R11529;STS-T65756;WI-17092;Z94298 MGC31836;PRKCBP1;PRO2893;RACK7 CTCL tumor antigen se14-3;CTCL-associated antigen se14-3;OTTHUMP00000043381;OTTHUMP00000043384;OTTHUMP00000214693;OTTHUMP00000214694;OTTHUMP00000214695;OTTHUMP00000214761;OTTHUMP00000214762;OTTHUMP00000214763;cutaneous T-cell lymphoma associated antigen se14-3;cutaneous T-cell lymphoma-associated antigen se14-3;predicted protein of HQ2893;protein kinase C-binding protein 1;zinc finger MYND domain containing protein 8;zinc finger MYND domain-containing protein 8 APPROVED protein-coding ENSG00000101040 9397 10166 REVIEWED 1343353 ZNF117 zinc finger protein 117 7 7 7 q11.21 58153899 58170471 - 64072265 64088849 - 64434830 64451414 - 1580863;6480464 2023909;2505992;12477932;2115127;1427907;20379614;22505724 51351 Q03924 ABBA01027989;AC073210;AF075025;AMYH01017438;BC034021;M27879;M55422;M61867;NG_006928;NM_015852 AAA36010;AAA58666;AAG41761;AAI56437;AAI72492;NP_056936;Q03924 Hs.250693 1654032;1665602;1675453;1680226;2149199;2220430;2220626;5016851;5037552;5127398;7186918 D8S2279;ERV3;RH17834;RH70049;RH80031;SHGC-32256;SHGC-36553;SHGC-77159;UniSTS:481985;UniSTS:486333 H-plk;HPF9;MGC22613 Krueppel-related zinc finger protein;OTTHUMP00000210209;provirus-linked krueppel;zinc finger protein 117;zinc finger protein 117 (hpf9);zinc finger protein HPF9 protein-coding 12897 08937;13619 194624 VALIDATED 1349914 ZNF12 zinc finger protein 12 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] 7 7 7 p22.1 5988584 6007102 + 6694589 6713091 - 6728064 6746566 - 1580863;6480464 16806083;14702039;12477932;7865130;2288909;2026422;21890473 7559 H9KV98;Q9ULZ6 AACC02000124;AB021643;ABBA01056504;AC073343;AF505656;AI879099;AK022691;AK055709;AK293925;AMYH01017045;AY500354;BC051892;BC137068;BC137069;BC144465;BC154414;BX114779;BX640749;CH236963;CH878731;NM_006956;NM_016265;X52334 AAI37069;AAI37070;AAI54415;AAM28195;AAS55104;BAA86989;BAB14183;BAG57306;CAA36560;CAE45857;EAW55012;EAW55013;EAW55014;EAW55015;EAW55016;NP_008887;NP_057349;P17014 Hs.431471 1667287;2115130;2115952;2187311;2187313;5108151 D7S2110E;NIB1508;RH48129;RH65427;RH69242;ZNF12 GIOT-3;HZF11;KOX3;ZNF325 OTTHUMP00000200756;OTTHUMP00000200757;OTTHUMP00000200758;gonadotropin inducible transcription repressor 3;gonadotropin-inducible ovary transcription repressor 3;zinc finger protein 11;zinc finger protein 12;zinc finger protein 325;zinc finger protein KOX3 APPROVED protein-coding ENSG00000164631 12902 11835;15773 194536 REVIEWED 1350451 ZNF132 zinc finger protein 132 19 19 19 q13.4 55988179 55995587 - 63635993 63643401 - 58944181 58951589 - 1580863;6480464 7557990;17975119;14702039;12477932;19023099;16751776;21445975 7691 B3KQ54;P52740 ABBA01020766;AC012313;AK057460;AK313895;AMYH01010038;BC109107;BC109108;BQ774411;CH471135;NM_003433;U09411 AAC50252;AAI09108;AAI09109;ABZ92444;BAG36618;BAG51916;EAW72590;EAW72591;NP_003424;P52740 Hs.156169 1665428;1680120;1779610;2106749 RH71196;RH98347;SHGC-153581;ZNF132__4959 MGC126390;MGC126391;pHZ-12 zinc finger protein 132 protein-coding ENSG00000131849 12916 07240 604074 VALIDATED 1314784 ZNF124 zinc finger protein 124 This gene encodes a member of the Kruppel-type (C2H2) zinc finger protein family. It has a KRAB-A box at its amino terminus and seven consecutively repeated zinc finger motifs at its carboxy terminus. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and its expression inhibits apoptotic cell death induced by irradiation or exposure to etoposide. These attributes suggest that this protein may act as a transcription factor. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described for this gene but their biological validity has not been confirmed. This gene has a pseudogene on chromosome 14. [provided by RefSeq, Aug 2011] 1 1 1 q44 220615603 220631711 - 245385826 245401941 - 247285277 247335318 - 1580863;6480464 7916577;16710414;15489334;14702039;12477932;21314694;10667597;12142086;16344560;17431901;20360068;22505724 7678 J3QKQ6;Q15973 ABBA01031781;ABBA01031782;AK054647;AK131017;AL390728;AMYH01001909;AMYH01001910;BC013605;BC032514;BC096349;BC096350;BC096351;BC099661;CH471148;DA610013;NG_029824;NM_001243740;NM_003431;S54641 AAB25346;AAB25347;AAH96349;AAH96350;AAH96351;AAH99661;BAG51405;EAW77169;NP_001230669;NP_003422;Q15973 Hs.421238;Hs.655205;Hs.743338 1692546;5022651;5037552 AL034049;D11S2921;D8S2279 HZF-16;HZF16;MGC117046;ZK7 OTTHUMP00000038603;zinc finger protein 124;zinc finger protein HZF-16 APPROVED protein-coding ENSG00000196418 12907 01936 194631 REVIEWED 1352509 ZNF134 zinc finger protein 134 19 19 19 q13.4 55169407 55177213 + 62817642 62825448 + 58125830 58133636 + 1580863;6480464 7557990;12477932;18029348 7693 M0QXC7;M0R246;P52741 ABBA01020805;AC003682;AK291763;AMYH01010028;BC011646;BC021280;BC042636;BC112294;BC113410;CH471135;NM_003435;U09412 AAC24610;AAC50253;AAH11646;AAH21280;AAH42636;AAI12295;AAI13411;ABZ92445;ACE86954;ACE87645;ADR83158;BAF84452;EAW72518;NP_003426;P52741 Hs.469694 1851571;2186341 D19S1016;STS-U09412 MGC138499;MGC141970;pHZ-15 zinc finger protein 134;zinc finger protein 134 (clone pHZ-15) protein-coding 12918 07241 604076 PROVISIONAL 1353025 ZNF131 zinc finger protein 131 5 5 5 p12 43012883 43067075 + 43157399 43211593 + 43121642 43175836 + 1580863;6480464 17573780;7557990;21252943;17306895;15489334;15372022;14702039;12477932;12163020;18847501;22939629;22467880;20805357;21987572;21693764;21963094;23159625;23404503 7690 D6R9I2;D6RAT8;D6RBK1;D6RD61;D6RE06;D6RFI6;D6RJ09;D6RJH2;H0Y974;P52739 ABBA01024247;ABBA01024248;ABBA01024249;ABBA01024250;ABBA01024251;ABBA01024252;ABBA01024253;ABBA01024254;AC106800;AK057343;AK299315;AK307963;AK307974;AK307977;AK310735;AMYH01015055;AMYH01015056;BC017923;BC035875;CH471119;NM_003432;U09410 AAC50251;AAH35875;BAG51904;BAG61325;EAW56046;EAW56047;EAW56048;NP_003423;P52739 Hs.535804 1667293;1669064;1669066;1670355;1686933;1785530;1794318;2181607;2220616 A006A29;G20654;PMC311006P8;RH79112;RH92085;SHGC-154585;SHGC-64136;STS-U09410;UniSTS:485831 ZBTB35;pHZ-10 OTTHUMP00000221616;OTTHUMP00000221617;OTTHUMP00000221618;OTTHUMP00000221620;OTTHUMP00000221621;zinc finger and BTB domain containing 35;zinc finger protein 131;zinc finger protein 131 (clone pHZ-10) protein-coding ENSG00000172262 12915 604073 VALIDATED 1343941 ZNF133 zinc finger protein 133 20 20 20 p11.23 18343191 18371711 + 18217121 18245640 + 18269121 18297640 + 1580863;6480464 7557990;9278146;18029348;17934332;16344560;15489334;14578011;12477932;11780052;7649249;21900206;8769649 7692 F5H289;J3KQ11;J3KQJ0;P52736;Q5JXV9;Q5JXW0;Q5JXW1 ABBA01054045;AK123005;AK291389;AK294263;AK295273;AK295513;AK313525;AK316386;AL049646;AMYH01011743;BC001887;BT007310;CH471133;DB270242;NM_001083330;NM_003434 AAH01887;AAP35974;BAF84078;BAG57556;BAG58259;BAG58430;BAH14757;EAX10249;EAX10250;EAX10251;EAX10252;EAX10253;NP_001076799;NP_003425;P52736 Hs.472221 1778512;2108655;2143076 RH66082;WI-18789;ZNF133_8742 ZNF150;pHZ-13;pHZ-66 OTTHUMP00000042628;OTTHUMP00000063118;OTTHUMP00000063119;OTTHUMP00000063121;zinc finger protein 133;zinc finger protein 133 (clone pHZ-13);zinc finger protein 150 (pHZ-66) protein-coding ENSG00000125846 12917 04964 604075 VALIDATED 1349048 ZNF135 zinc finger protein 135 19 19 19 q13.4 55613970 55624470 + 63262424 63272588 + 58570607 58581123 + 1580863;6480464 7557990;16344560;15146197;14702039;12477932;8478004;1946370;1505991;21900206;22505724 7694 B4DLZ7;H0Y3I8;M0R0N7;P52742;Q8N9M3 ABBA01020786;AC008751;AK094202;AK095796;AK098011;AK295110;AK297226;AL833637;AMYH01010031;BC046434;BX647775;CH471135;CN367970;DA232862;DB117846;DB304820;M88370;NM_001164527;NM_001164529;NM_001164530;NM_003436;NM_007134;U09413;X65231 AAA61328;AAC50254;AAH46434;BAC04309;BAC05214;BAG58141;BAG59709;CAA46338;EAW72552;EAW72553;EAW72554;EAW72555;EAW72556;NP_001157999;NP_001158001;NP_001158002;NP_003427;NP_009065;P52742 Hs.85863 1685259;1687449;2110069;2175389;5015330 AF020182;DXS7489;RH39178;RH98773;ZNF135_8743 ZNF61;ZNF78L1;pHZ-17;pT3 OTTHUMP00000218800;OTTHUMP00000218801;OTTHUMP00000218802;OTTHUMP00000218803;OTTHUMP00000218804;zinc finger protein 135;zinc finger protein 135 (clone pHZ-17);zinc finger protein 61;zinc finger protein 78-like 1 (pT3) protein-coding ENSG00000176293 12919 07242 604077 VALIDATED 1345314 ZNF137P zinc finger protein 137, pseudogene 19 19 19 q13.4 50149203 50152671 + 57791749 57795217 + 53099937 53103405 + 1580863;6480464 7557990;15489334;12477932;20211142 7696 P52743 ABBA01068247;AC022150;AMYH01009956;BC110455;BC110456;BM988340;BQ893730;NR_023311;U09414 AAC50255 Hs.373648 1714853;2135070;5106800 RH120421;RH79113;STS-U09414 MGC119990;MGC119991;ZNF137;pHZ-30 APPROVED pseudo 12921 07243 604079 VALIDATED 1351207 ZNF14 zinc finger protein 14 The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [provided by RefSeq, Jul 2008] 19 19 19 p13.11 19725244 19749091 - 19682281 19704921 - 19821281 19843921 - 1580863;6480464 18981223;8262519;7649249;2288909;12477932;16341674;22505724;22797925 7561 P17017 AA286756;AB021644;ABBA01051339;AC011458;AC104523;AK074832;AMYH01009610;AV726241;AW675436;BC136323;BE392040;BM836276;CA414092;CD358782;CH471106;FB659866;NM_021030;X52337 AAI36324;BAA86990;CAA36563;CAS01787;EAW84858;NP_066358;P17017 Hs.659932 GIOT-4;KOX6 gonadotropin inducible transcription repressor-4;gonadotropin-inducible ovary transcription repressor 4;zinc finger protein 14;zinc finger protein 14 (KOX 6);zinc finger protein KOX6 APPROVED protein-coding ENSG00000105708 12924 01933 194556 REVIEWED 1345728 ZNF136 zinc finger protein 136 19 19 p13.2 12134919 12161064 + 12273872 12300064 + 1580863;6480464 16189514;15489334;14702039;12477932;7865130;7649249;7557990;19060904;16344560;19156129;22505724 7695 C9J2Q9;C9JJK8;C9JR58;F8WES0;P52737 ABBA01029804;AC012618;AC022415;AK123008;AK291242;AK299601;AMYH01009489;AY500356;BC006421;BQ574220;CH471106;DB200139;DB369850;NM_003437;U09367 AAC50261;AAH06421;AAS55106;ADZ15422;BAF83931;BAG61532;EAW84264;NP_003428;P52737 Hs.479874 1650618;2108657;2147097 D19S1165;RH79111;ZNF136_8744 pHZ-20 OTTHUMP00000209870;OTTHUMP00000209871;zinc finger protein 136 protein-coding ENSG00000196646 12920 04965 604078 VALIDATED 1351095 ZNF140 zinc finger protein 140 12 12 12 q24.33 133357326 133384557 + 132167110 132194333 + 133657037 133684260 + 1580863;6480464 7557990;14702039;12477932;7649249;21145461;8769649 7699 F5GX08;F5H0J9;F5H3Z2;F5H4I1;F5H644;F8WAF8;I3L0D9;I3L0I7;P52738;Q05CP6 ABBA01042530;AC026786;AC073911;AK122741;AK296572;AK303240;AK313145;AMYH01004923;BC022291;BC040561;BM477600;CH471218;NM_003440;U09368 AAC50262;AAH22291;AAH40561;BAG35963;BAG53698;BAG59192;BAG64326;EAW54794;EAW54795;EAW54796;EAW54797;EAW54798;NP_003431;P52738 Hs.181552 1732021;2122498;2177069;2220026 D12S399;D17S1997;RH48873;ZNF140__4961 pHZ-39 OTTHUMP00000237394;OTTHUMP00000237395;OTTHUMP00000237396;OTTHUMP00000237398;OTTHUMP00000237399;OTTHUMP00000237400;OTTHUMP00000237402;zinc finger protein 140 protein-coding 12925 04966 604082 VALIDATED 1347937 ZNF150 zinc finger protein 150 (pHZ-66) 7708 12935 1353909 ZNF138 zinc finger protein 138 7 7 7 q11.21 57974871 58015308 + 63892241 63931140 + 64254771 64294026 + 1580863;6480464 7557990;16344560;14702039;12477932;8889549;20379614;19247474;22505724 7697 A2RRP7;C9JHF6;E7EWC5;J3QSS9;P52744 AA114243;ABBA01027986;AC073349;AK027335;AK055644;AK294302;AK298230;AL597519;AL834121;AMYH01017435;AMYH01017436;BC017945;BC037426;BC047786;BC067817;BC131762;BC141847;CH471204;DA141582;DA442912;DA624602;DA885282;DB208290;NM_001160183;NM_001271637;NM_001271638;NM_001271639;NM_001271640;NM_001271649;NM_006524;NR_027660;NR_027661;NR_073389;NR_073391;U09847 AAC50263;AAH17945;AAI31763;BAG51547;BAG57583;BAG60499;EAW77979;EAW77980;EAW77981;EAW77982;EAW77983;NP_001153655;NP_001258566;NP_001258567;NP_001258568;NP_001258569;NP_001258578;NP_006515;P52744 Hs.184080 1681534;1687019;2146349;2220430;2220626;5016670;5109663;5113020;5124576;7186918 D7S2067E;ERV3;RH27227;RH36724;RH40629;RH65078;RH80873;UniSTS:481985;UniSTS:486333;ZNF138 pHZ-32 OTTHUMP00000210145;OTTHUMP00000210148;OTTHUMP00000210149;zinc finger protein 138;zinc finger protein 138 (clone pHZ-32) protein-coding 12922 07244 604080 VALIDATED 1353813 ZNF141 zinc finger protein 141 4 4 4 p16.3 273305 309402 + 321617 359047 + 331596 367691 + 1580863;6480464 8268908;16344560;15489334;12477932;9671765;15576338;22505724 7700 D6RB60;D6RIY0;Q15928 ABBA01019327;AC079140;AC092574;AMYH01013832;AMYH01013833;BC036854;BC057244;BC074853;CH471131;DA385292;L15309;NM_003441 AAC37529;AAH74853;AAY41036;EAW82669;EAW82670;EAW82671;NP_003432;Q15928 Hs.654355 1772902;1850146;2220430;2220626;5106791 D4S3146;G33430;SHGC-58309;UniSTS:481985;UniSTS:486333 D4S90;PAPA6;pHZ-44 OTTHUMP00000216729;OTTHUMP00000216730;OTTHUMP00000216731;zinc finger protein 141;zinc finger protein 141 (clone pHZ-44) protein-coding 12926 01937 194648;615226 VALIDATED 1320100 ZNF142 zinc finger protein 142 The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] 2 2 2 q35 213270397 213292019 - 219210883 219232599 - 219502639 219524261 - 1580863;6480464 7557990;17081983;14702039;12477932;9039502;8889548;16730941;20379614;20936779;21139048;20881960;22959728 7701 C9J055;C9JBL7;F2Z2H3;H7C414;P52746 ABBA01023861;ABBA01023862;AC012510;AC079810;AK095027;AMYH01011497;BC033631;BC038226;BC053849;BM719343;CH471063;D87073;NG_033099;NM_001105537;NR_073599;NR_073600;U09849 AAC50265;BAA13242;EAW70630;EAW70631;EAW70632;EAW70633;NP_001099007;P52746 Hs.657969 1670299;2114272;2147423;2162065 A007J36;D2S1297;G17323;RH65508 pHZ-49 HA4654;OTTHUMP00000206541;zinc finger protein 142;zinc finger protein 142 (clone pHZ-49) protein-coding ENSG00000115568 12927 04967 604083 REVIEWED 1343254 ZNF158 zinc finger protein 158 (HZF23) 7713 12943 1350528 ZNF159 zinc finger protein 159 (F11) 7714 12944 1313824 ZNF143 zinc finger protein 143 11 11 p15.4 9439089 9506647 + 9482512 9550071 + 1580863;6480464 9009278;9566884;17938208;17707600;17478512;17297437;15489334;14702349;12477932;11724783;9776743;9705341;7641696;7557990;21909943;21177654;20116366;20860770;20733350;18687992;23152058;22505724 7702 C9J2G7;C9JCG1;C9JRS3;C9JTC5;E7EN86;E7ER34;E9PJF2;E9PLN4;E9PLS7;E9PMY8;E9PPB0;E9PS81;H7C1P6;P52747 ABBA01061173;ABBA01061174;ABBA01061175;ABBA01061176;ABBA01061177;AC127030;AC132192;AF071771;AJ277546;AJ295844;AK291133;AK297214;AK313330;AMYH01003383;AMYH01003384;AMYH01003385;AW162015;BC014458;BC020219;BG825506;CH471064;NM_003442 AAC96102;AAH20219;ABZ92446;BAF83822;BAG59697;CAC14172;CAC17610;EAW68589;NP_003433;P52747 Hs.523471 1662896;1670295;1699118;1760343;2149209;2155430;2183826 RH103135;RH45706;SHGC-141920;SHGC-36264;STS-AA007424;STS-H99156;STS-U09850 SBF;STAF;pHZ-1 OTTHUMP00000195124;OTTHUMP00000195125;OTTHUMP00000195129;OTTHUMP00000231211;OTTHUMP00000231214;SPH-binding factor;hStaf;selenocysteine tRNA gene transcription-activating factor;transcriptional activator Staf;zinc finger protein 143 protein-coding ENSG00000166478 12928 04578 603433 VALIDATED 1349269 ZNF154 zinc finger protein 154 19 19 19 q13.4 55255336 55264105 - 62903622 62912391 - 58211810 58220579 - 1580863;6480464 7557990;16344560;15146197;14702039;12477932;23056278 7710 Q13106 AB095924;ABBA01020804;AC003006;AC004017;AI949650;AK092261;AMYH01010028;BC152404;BC152426;BC152561;CH471135;CN280337;DB162039;NM_001085384;U20648 AAC50257;AAI52405;AAI52427;AAI52562;AAI60120;BAC03839;BAC23100;EAW72526;EAW72527;NP_001078853;Q13106 Hs.646378 1688259;1847540;2130260;5015961;5021369;5022651;5110117 19556ht2;D11S2921;D15S1477;L17796;RH18014;RH93698;SGC35348 MGC176628;MGC176661;pHZ-92 zinc finger protein 154 protein-coding ENSG00000179909 12939 07245 604085 VALIDATED 1346697 ZNF164 zinc finger protein 164 7717 12952 1342677 ZNF146 zinc finger protein 146 19 19 q13.1 41397344 41421516 + 36705504 36729676 + 1580863;6480464 8665923;8107129;18029348;16344560;15881673;15838871;15489334;15146197;15057824;12754738;12477932;11306801;10449921;9935176;8641144;21890473;22505724 7705 Q15072 ABBA01018783;AC012617;AI039686;AJ011806;AK311486;AK313460;AMYH01009739;BC005154;BC065568;BC110500;BC110501;CN409203;DA177508;DA395000;DA645504;DA806687;DB068031;DR155969;NM_001099638;NM_001099639;NM_007145;X70394 AAI10501;AAI10502;CAA49844;CAB41967;NP_001093108;NP_001093109;NP_009076;Q15072 Hs.643436 2144065;2177435 STS-X70394;WI-9312 MGC125660;MGC125661;OZF only zinc finger protein;zinc finger protein OZF protein-coding ENSG00000167635 12931 03296 601505 VALIDATED 732332 ZNF148 zinc finger protein 148 3 3 q21 126427203 126576888 - 124944513 125094198 - 1580863;6480464 9685330;8355710;18029348;19362768;19275880;18496767;18250154;17940278;17663720;17560543;17019648;16964243;16827139;16825291;16517939;16384873;16344560;15489334;15302935;15175029;14963412;14712222;12759240;12477932;12393719;11416144;10899165;10727401;10359087;9925940;9457682;9144414;8943318;7557990;22372401;12771217;19583777;19875459;20379614;22939629;22982674;21828133;22111549;19471022;21139048;21693764;21890473;19322201;22214764 7707 C9J6Y6;C9JRX0;C9K0U4;G5E9X2;Q6PJ98;Q9UQR1 AA481164;ABBA01016422;ABBA01016423;ABBA01016424;ABBA01016425;AC108688;AF039019;AF432210;AJ236885;AK314203;AL833616;AMYH01013441;AMYH01013442;BC016316;BC018971;BC035591;BC050260;BC128582;BQ441085;CH471052;DA492993;DA726996;DN994032;DQ090088;L04282;NM_021964;U09851;U96633 AAA36664;AAB57692;AAC39926;AAC50267;AAH18971;AAH35591;AAH50260;AAL99917;AAY99631;BAG36879;CAA15422;EAW79394;EAW79395;EAW79396;EAW79397;EAW79398;NP_068799;Q9UQR1 Hs.592591 1662516;1682167;1729107;1739045;1774577;1797060;2127165;2147696;2173256;5017791 D3S3244;D3S3351;D3S3396;RH93652;STS-L04282;UniSTS:144823;WI-16965;WI-17698;ZNF148;ZNF148_1124 BERF-1;BFCOL1;DKFZp686L18248;HT-BETA;ZBP-89;ZFP148;pHZ-52 CACCC box-binding protein;CLL-associated antigen KW-10;OTTHUMP00000215374;OTTHUMP00000215375;OTTHUMP00000215395;OTTHUMP00000215396;transcription factor ZBP-89;zinc finger DNA-binding protein 89;zinc finger protein 148 protein-coding ENSG00000163848 12933 03540 601897 VALIDATED 1352629 ZNF155 zinc finger protein 155 19 19 19 q13.2-q13.32 41291854 41305968 + 49180195 49194317 + 44488322 44502477 + 1580863;6480464 7557990;18029348;15489334;15057824;14702039;12743021;12477932;8617494;17220478;16344560 7711 K7EJJ6;K7ELA0;K7ENV6;Q12901 ABBA01040872;AC006213;AC018725;AF187986;AK022875;AK297360;AK297384;AK314510;AMYH01009842;BC075050;BC075051;BC126377;BC130381;BQ893627;CH471126;DA111916;DA164828;DA504192;DC330742;DN994146;NM_001260486;NM_001260487;NM_001260488;NM_003445;NM_198089;U09852;U46188;U46190 AAB03530;AAB03532;AAC50268;AAF04102;AAF18684;AAH75050;AAH75051;AAI26378;AAI30382;ABZ92447;BAB14287;BAG37110;BAG59807;BAG59825;EAW57238;EAW57239;EAW57240;NP_001247415;NP_001247416;NP_001247417;NP_003436;NP_932355;Q12901 Hs.279567;Hs.502127 1696994;1769281;2118094 G31036;RH101969;STS-U46188 MGC161655;pHZ-96 KRAB A domain;zinc finger protein 155 protein-coding ENSG00000204920 12940 04969 604086 VALIDATED 1344228 ZNF157 zinc finger protein 157 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. [provided by RefSeq, Jul 2008] X X X p11.2 51425250 51468358 + 47114943 47158042 + 47229999 47273098 + 1580863;6480464 8586441;18029348;15772651;15489334;12477932;11944989;20395239 7712 P51786 ABBA01052344;ABBA01052345;ABBA01052346;ABBA01052347;ABBA01052348;ABBA01052349;ABBA01052350;ABBA01052351;ABBA01052352;ABBA01052353;ABBA01052354;AL590223;AL591503;AMYH01022261;AMYH01022262;BC075003;CH471164;CO245585;NM_003446;U28687 AAA97578;AAH75003;ABZ92448;EAW59299;NP_003437;P51786 Hs.89897 2161345;5037552 D8S2279;STS-U28687 HZF22 OTTHUMP00000023210;zinc finger protein 157;zinc finger protein 22;zinc finger protein HZF22 APPROVED protein-coding 12942 02064 300024 REVIEWED 1353933 ZNF170 zinc finger protein 170 (clone 164) 7723 12959 1346136 ZNF171 zinc finger protein 171 (clone 165) 7724 12960 1343184 ZNF172 zinc finger protein 172 (clone 130) 7725 12961 1343220 ZNF17 zinc finger protein 17 19 19 19 q13.4 54966237 54977016 + 62614341 62625119 + 57922529 57933307 + 16344560;15057824;14702039;11853319;2288909;2115127;2014798;17043677 7565 M0QZR3;M0R2T2;P17021 AB075827;ABBA01020809;AC003002;AK097123;AK098183;AK127948;AK128471;AMYH01010028;CH471135;DA476988;DA746547;NM_006959;X52341 AAI52893;ABZ92248;BAB85533;BAC04956;BAC05252;BAG54604;BAG54682;CAA36567;EAW72500;NP_008890;P17021 Hs.729403 2220032;5015861;7185938 D10S16;ZNF17__4967 FLJ40864;FLJ46058;FLJ46615;HPF3;KIAA1947;KOX10 zinc finger protein 17;zinc finger protein 17 (HPF3, KOX 10);zinc finger protein HPF3;zinc finger protein KOX10 protein-coding ENSG00000186272 12958 18323 VALIDATED 1344072 ZNF176 zinc finger protein 176 7729 12965 1342906 ZNF16 zinc finger protein 16 The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012] 8 8 8 q24 142332253 142353324 - 146126548 146147078 - 146155744 146176274 - 1580863;6480464 15489334;14702039;12477932;11054286;8125298;7486829;2288909;16628192;19763908;20346131;21468593;21874239 7564 E9PNT9;E9PQV1;P17020;Q45SH7;Q9NRA4 ABBA01005193;ABBA01005194;AF235103;AF244088;AK096815;AK127625;AK226016;AL834451;AMYH01019163;AMYH01019164;BC010996;CH471162;DQ117529;NM_001029976;NM_006958;X52340 AAF75235;AAH10996;AAZ20773;BAG54536;CAA36566;CAD39111;EAW82027;EAW82028;NP_001025147;NP_008889;P17020 Hs.493225 1682209;2118574;2163838;2178784;5022576;5024035;5116670 D13S116;D1S1361;RH44407;SHGC-3212;STS-H17016;WI-21609;sY3122 HZF1;KOX9 OTTHUMP00000229088;OTTHUMP00000229089;OTTHUMP00000229090;zinc finger protein 16;zinc finger protein 16 (kox 9);zinc finger protein KOX9;zinc finger protein Kruppel type 9 APPROVED protein-coding ENSG00000170631 12947 03163 601262 REVIEWED 1351304 ZNF178 zinc finger protein 178 7731 12967 1602451 ZNF160 zinc finger protein 160 The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Three alternative transcripts encoding the same protein have been described. [provided by RefSeq, Jul 2008] 19 19 19 q13.42 50617405 50654218 - 58261679 58298499 - 53569867 53606687 - 6480464 11410164;16344560;14702039;12477932;11214971;10997877;7865130;7774943;19846881;21139048;22505724 90338 M0QXU9;M0QZ49;M0QZI7;M0R285;Q9BVY9;Q9HCG1 AB046831;ABBA01068224;AC010328;AF027144;AF277623;AK024442;AK024789;AMYH01009957;BC000807;BC012054;BC094880;BF570224;BU430880;CH471135;CR749613;DA230397;DB078640;NM_001102603;NM_033288;NM_198893;X77744;X78928 AAB84023;AAH00807;AAH94880;AAK61306;BAB13437;BAB15732;CAA55528;CAH18407;EAW72110;EAW72111;EAW72112;EAW72113;EAW72114;NP_001096073;NP_150630;NP_942596;Q9HCG1 Hs.655967 1645120;1774669;5015881;5015961 D15S1477;GDB:335751;RH48199;STS-N30552 DKFZp686B16128;F11;FLJ00032;HKr18;HZF5;KIAA1611;KR18 KRAB zinc finger protein KR18;zinc finger protein 160;zinc finger protein 5;zinc finger protein HZF5;zinc finger protein Kr18 APPROVED protein-coding ENSG00000170949 12948 11856 600398 REVIEWED 1312178 ZNF169 zinc finger protein 169 9 9 9 q22.32 67463117 67506809 + 96061399 96105112 + 97021578 97065291 + 1580863 12477932;17567985;16344560;14702039;9722951;9186526;9071574;22344221 169841 Q14929;Q5SR55;Q6PJ92 ABBA01017674;ABBA01017675;AK093956;AK122832;AK289742;AL691447;AMYH01021521;AMYH01021522;BC011947;BC019228;BC035060;BC047702;BP873364;CH471089;DA490480;NM_194320;U28251;U28322 AAA70187;AAA70188;AAH11947;AAH19228;AAH35060;AAH47702;BAF82431;EAW62878;EAW62879;EAW62880;EAW62881;EAW62882;NP_919301;Q14929 Hs.387623 1744725;2149475;2156407;2219764;5022578;5037552 D1S1423;D8S2279;GDB:555455;RH36567;U57808;ZNF169__4966 MGC51961 OTTHUMP00000161692;zinc finger protein 169 protein-coding 12957 04554 603404 VALIDATED 1342847 ZNF165 zinc finger protein 165 This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] 6 6 6 p21.3 29654543 29663402 + 28154551 28165320 + 28048482 28057341 + 1580863;6480464 16189514;15489334;14574404;12477932;11076058;9244436;7490084;10567577;8673473 7718 P49910;Q53Z40 ABBA01038015;AK292371;AL121944;AL546097;AL583605;AMYH01016189;AY083664;AY366500;BC026092;BC037779;CH471081;NM_003447;U78722;U88083;U88084;U88085;U88086;X84801 AAC51658;AAD04755;AAH26092;AAH37779;AAM08933;AAQ73196;ABZ92449;BAF85060;CAA59268;EAX03131;NP_003438;P49910 Hs.55481 1645340;2110071;2146574 D6S2308;RH66807;ZNF165_8747 CT53;LD65;ZSCAN7 OTTHUMP00000016195;cancer/testis antigen 53;zinc finger and SCAN domain-containing protein 7;zinc finger protein 165 APPROVED protein-coding ENSG00000197279 12953 02903 600834 REVIEWED 1346277 ZNF175 zinc finger protein 175 19 19 q13.4 56766343 56784803 + 52074531 52092991 + 1580863;6480464 8838321;18029348;19247725;19034670;19034669;18776638;18773297;15489334;15081264;15057824;14688346;12477932;1602151;20379614;20936779;20211142;22491018;12574502;17170456;22505724 7728 F5GZI7;G3V1K8;M0QYL8;M0R013;Q9Y473 ABBA01068268;ABBA01068269;AC018755;AC020914;AI221738;AK292687;AMYH01009952;BC007778;BC052997;BX474148;CH471135;CQ840917;D50419;FB353527;NM_007147 AAF87843;AAH52997;BAA23362;BAF85376;CAH05700;CAR82349;EAW72029;EAW72030;NP_009078;Q9Y473 Hs.119014 1645974;1749049;2167810;2184228;2220028 G31547;RH12308;SHGC-110678;SHGC-32377;ZNF175__4968 OTK18 OTTHUMP00000236810;OTTHUMP00000236811;zinc finger protein 175;zinc finger protein OTK18 protein-coding ENSG00000105497 12964 03088 601139 VALIDATED 1347344 ZNF182L zinc finger protein 182-like (HHZ150) 7736 12973 1348239 ZNF180 zinc finger protein 180 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002] 19 19 19 q13.2 41783864 41808558 - 49671701 49696395 - 44979856 45004574 - 1580863;6480464 18957941;15057824;14702039;12743021;12477932;8914611 7733 G5E9B8;K7EMI5;K7EN00;K7EQP0;K7EQX9;K7ES30;Q9UJW8 AA835661;ABBA01040878;AC069278;AF192913;AI472318;AK024047;AK122688;AK315193;AMYH01009842;BC033642;BC051903;BC113015;CH471126;DB496139;NM_001278508;NM_001278509;NM_013256 AAF07950;AAF71790;AAH33642;AAI13016;ABZ92257;BAG37633;BAG53668;EAW57274;EAW57275;EAW57276;EAW57277;EAW57278;EAW57279;NP_001265437;NP_001265438;NP_037388;Q9UJW8 Hs.22305;Hs.720205 HHZ168 zinc finger protein 180 APPROVED protein-coding ENSG00000167384 12970 08414 606740 VALIDATED 1353253 ZNF177 zinc finger protein 177 19 19 p13.2 9334696 9353866 + 9473696 9493293 + 1580863;6480464 8661005;15489334;12477932;11549323;15342556;16344560 7730 K7EK36;K7EQU1;Q13360 ABBA01029978;AC011451;AK302274;AMYH01009460;BC012012;BP260204;BX114567;CH471106;DA338574;DA494894;NM_001172651;NM_003451;U37263 AAB09749;AAH12012;ABZ92255;BAG63619;EAW84031;NP_001166122;NP_003442;Q13360 Hs.728944 1671360;1750577;1855462;1855464;2162836;2220030 HSC11G032;SHGC-111881;SHGC-30311;SHGC-31653;WI-14794;ZNF177__4969 PIGX zinc finger protein 177 protein-coding ENSG00000188629 12966 03175 601276 VALIDATED 1322583 ZNF174 zinc finger protein 174 16 16 16 p13.3 3657974 3666144 + 3391245 3399365 + 3451190 3459364 + 1580863;6480464 10567577;7673192;18029348;16344560;15592455;15489334;12477932;11741982;8889548;18472161;15629724;17207965;20211142;17000644 7727 I3L2H2;Q15697 ABBA01026740;AC025283;AF542096;AMYH01007093;BC000876;BC001161;BI918471;BM969505;BT006923;CH471112;DA962432;NM_001032292;NM_003450;U31248 AAB04897;AAH00876;AAH01161;AAN40766;AAP35569;ADQ31653;EAW85368;NP_001027463;NP_003441;Q15697 Hs.155204 1690718;2112904;2121814;2125788;2143442 D16S2636;D16S3379;RH70598;RH91708;STS-U31248 ZSCAN8 AW-1;OTTHUMP00000159720;zinc finger and SCAN domain-containing protein 8;zinc finger protein 174 protein-coding ENSG00000103343 12963 04876 603900 VALIDATED 1344066 ZNF187P1 zinc finger protein 187 pseudogene 1 387050 13988 1348960 ZNF188 zinc finger protein 188 7742 12979 1312982 ZNF18 zinc finger protein 18 17 17 17 p11.2 11911329 11931257 - 11821487 11841414 - 11880762 11900689 - 6480464 18029348;16120570;15702252;15489334;14702039;12477932;2288909;2014798;22505724 7566 J3KSA1;J3KSC1;J3KTA0;P17022;Q96LU8 ABBA01054999;AC005410;AK057783;AK092656;AK127908;AMYH01008116;AY491053;BC036096;CH471108;NM_144680;X52342 AAH36096;AAS67595;ABZ92437;BAB71570;BAC03939;BAG54597;CAA36568;EAW89977;NP_653281;P17022 Hs.370473 1688480;2154499 RH93553;SHGC-64924 HDSG1;KOX11;ZKSCAN6;ZNF535;ZSCAN38;Zfp535 heart development-specific gene 1 protein;heart development-specific protein;zinc finger protein 18;zinc finger protein 535;zinc finger protein KOX11;zinc finger protein with KRAB and SCAN domains 6 protein-coding ENSG00000154957 12969 01913 194524 PROVISIONAL 1350016 ZNF181 zinc finger protein 181 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003] 19 19 19 q13.11 31937872 31946166 + 39916933 39925613 + 35225480 35233774 + 15489334;12477932;8914611;22505724 339318 B4DM69;F8W889;M0R074;M0R1Q2;M0R361;Q2M3W8 ABBA01018726;AC020910;AI800428;AK295492;AK297316;AMYH01009718;BC043228;BC104759;BC143441;BC143442;DC299701;DC304794;NM_001029997;NM_001145665 AAH43228;AAI04760;AAI43443;BAG58413;BAG59781;NP_001025168;NP_001139137;Q2M3W8 Hs.720472 1697894;2126572;2220034;5016334 D19S963;RH102475;SHGC-56626;ZNF181__4972 HHZ181;MGC44316 OTTHUMP00000212232;OTTHUMP00000212233;OTTHUMP00000212234;zinc finger protein 181;zinc finger protein 181 (hhz181) APPROVED protein-coding ENSG00000197841 12971 18783 606741 VALIDATED 5490507 ZNF192P2 zinc finger protein 192 pseudogene 2 6 6 p22.1 28263695 28265168 + 28155716 28157189 + 222701 ABBA01038015;AL022393;AMYH01016189;NG_006136 1695386 SHGC-68482 pseudo 42862 INFERRED 1350446 ZNF194 zinc finger protein 194 7747 12985 1347253 ZNF192P1 zinc finger protein 192 pseudogene 1 6 6 p22.1 29735613 29743439 + 28129602 28135146 + 6480464 8889549;16344560 651302 ABBA01038015;AK311106;AL022393;AL358933;AMYH01016189;BF475295;CH471081;DB298810;DN994493;HY011556;NR_103448;W78742;XR_171039;XR_171583;XR_172472 EAX03137 Hs.172143;Hs.722900 1651231 SHGC-57708 FLJ18148;ZNF389;ZNF389P;dJ265C24.4 zinc finger protein 389 APPROVED pseudo 18777 VALIDATED 1350640 ZNF196 zinc finger protein 196 7749 12987 1352809 ZNF185 zinc finger protein 185 (LIM domain) Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010] X X X q28 152417145 152476190 + 151833653 151892678 + 152082986 152142025 + 1580863;6480464 9268636;18029348;16799630;15731117;14702039;12873976;10854409;21145461;16344560;21139048;21890473 7739 B3KPM4;B8K2M2;H0Y4M8;H0Y704;H7BZT5;H7C1R1;H7C3U6;J3KNL4;Q8N1R8 ABBA01043675;ABBA01043676;ABBA01043677;ABBA01043678;ABBA01043679;ABBA01043680;ABBA01043681;AK056517;AK095258;AK296967;AK301530;AK304323;AMYH01023250;AMYH01023251;AY997296;BQ923456;BX537525;BX640940;CH471172;DA882423;DC305824;DC347990;DQ508022;DQ508023;DQ508024;DQ508025;DQ508026;NG_021255;NM_001178106;NM_001178107;NM_001178108;NM_001178109;NM_001178110;NM_001178113;NM_001178115;NM_007150;U82671;Y09538 AAI67865;AAY54245;ABF57657;ABF57658;ABF57659;ABF57660;ABF57661;BAC04511;BAG51736;BAG59511;BAG65173;BAH13507;CAA70733;CAD97773;CAE45970;EAW72893;EAW72894;EAW72895;EAW72896;NP_001171577;NP_001171578;NP_001171579;NP_001171580;NP_001171581;NP_001171584;NP_001171586;NP_009081;O15231 Hs.16622 1694336;1847047;2108661;2143006 A004F02;G42863;SHGC-17233;ZNF185_8750 OTTHUMP00000025904;OTTHUMP00000025907;OTTHUMP00000025909;OTTHUMP00000226014;P1-A;zinc finger protein 185 APPROVED protein-coding ENSG00000147394 12976 02306 300381 REVIEWED 6481303 ZNF197-AS1 ZNF197 antisense RNA 1 100874094 AC099669 APPROVED miscrna 40620 1348645 ZNF199 zinc finger protein 199 7751 12990 1342789 ZNF182 zinc finger protein 182 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2010] X X X p11.23 52029773 52058920 - 47719194 47748321 - 47834250 47863394 - 1580863;6480464 15489334;15146197;14702039;12477932;8914609;8088786;2288909;2014798 7569 P17025 ABBA01052421;ABBA01052422;ABBA01052423;ABBA01052424;ABBA01052425;ABBA01052426;AC244636;AK097687;AK122874;AK130362;AK299325;AMYH01022266;AW291763;BC106875;BC114216;BX537686;BX648401;CD642892;CH471164;CN311292;DC377274;NG_021254;NM_001007088;NM_001178099;NM_006962;X52345;Z98304 AAI06876;AAI14217;ABZ92249;BAG53772;BAG61332;CAA36571;EAW59334;EAW59335;EAW59336;NP_001007089;NP_001171570;NP_008893;P17025 Hs.189690 HHZ150;KOX14;MGC125383;MGC131713;ZNF21;Zfp182 OTTHUMP00000023233;OTTHUMP00000179115;zinc finger protein 182;zinc finger protein KOX14 APPROVED protein-coding ENSG00000147118 13001 11781 314993 REVIEWED 1353796 ZNF197 zinc finger protein 197 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] 3 3 3 p21 44604505 44627956 + 44641515 44664967 + 44666511 44689963 + 1580863;6480464 8353497;12682018;12477932;9380504;7814019;17043677;22505724 10168 C9JQH5;F8WEU5;O14709;Q7Z6G1 ABBA01024739;AC099669;AF011573;AK314196;AMYH01013121;AY074878;AY261677;AY279353;BC017584;BC031209;CH471055;L32163;NM_001024855;NM_006991;Z21707 AAA36817;AAB84385;AAH17584;AAI67827;AAL79677;AAP57399;AAQ62850;BAG36875;CAA79814;EAW64714;NP_001020026;NP_008922;O14709 Hs.157035 1669106;1848021;2130634;2184922;5014011;5020274 D3S1363;L18441;RH71310;SHGC-35297;SHGC-76875;STS-L32163 D3S1363E;P18;VHLaK;ZKSCAN9;ZNF166;ZNF20;ZSCAN41 OTTHUMP00000164119;OTTHUMP00000209715;OTTHUMP00000209717;OTTHUMP00000209718;VHL-associated KRAB-A domain-containing protein;pVHL-associated KRAB domain-containing protein;zinc finger protein 166;zinc finger protein 197;zinc finger protein 20;zinc finger protein with KRAB and SCAN domains 9 APPROVED protein-coding ENSG00000186448 12988 10322 REVIEWED 1312451 ZNF184 zinc finger protein 184 6 6 6 p21.3 29024557 29046939 - 27526506 27548858 - 27418521 27440897 - 1580863;6480464 9073517;18029348;16344560;14702039;12477932;8889548;19571809;20211142;21988832;22505724 7738 Q6ZND3;Q99676 ABBA01037994;ABBA01037995;AK123011;AK131264;AK312804;AL021918;AL031118;AMYH01016188;BC022992;BM675205;CH471081;DB090589;NM_007149;U66561 AAC51180;AAH22992;ABZ92258;ADZ16034;BAD18442;BAG35662;EAX03099;EAX03100;NP_009080;Q99676 Hs.158174 2110073;2121602;2148827 RH15852;RH37566;ZNF184_8749 OTTHUMP00000016181;zinc finger protein 184;zinc finger protein 184 (Kruppel-like) protein-coding ENSG00000096654 12975 03785 602277 VALIDATED 1315167 ZNF189 zinc finger protein 189 Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010] 9 9 9 q22-q31 74674768 74686547 + 103200984 103212763 + 104161163 104172942 + 1580863;6480464 9653648;15489334;15164053;12477932;10415338;8889548;16341674;16712791;20634891;22505724 7743 Q9UPF1 ABBA01042874;AF025770;AF025771;AF025772;AK290163;AK308935;AK313655;AL046790;AL353621;AMYH01021579;BC065718;BC092425;BC126120;BC143876;BC143877;BM820380;BM996467;BX497070;BX497641;CB162392;CB851970;CD518756;CH471105;NM_003452;NM_197977;U75454;U95991;U95992 AAC25909;AAC25910;AAC39798;AAC39799;AAC39800;AAD50527;AAD50528;AAH92425;AAI26121;AAI43877;AAI43878;BAF82852;BAG36409;EAW58949;EAW58950;NP_003443;NP_932094;O75820 Hs.50123 1650833;1675597 D9S950;RH94369 OTTHUMP00000021808;OTTHUMP00000021809;OTTHUMP00000021810;zinc finger protein 189 APPROVED protein-coding ENSG00000136870 12980 11930 603132 VALIDATED 1352529 ZNF195 zinc finger protein 195 This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] 11 11 11 p15.5 3369603 3390049 - 3336575 3356991 - 3379157 3400452 - 1580863;6480464 9344677;16344560;14702039;12477932;7959730;1602151;20211142;9778121;20562864;10369881;21139048;21890473;22505724 7748 C9JG37;E9PIN4;E9PIT0;E9PIY8;E9PLF5;E9PLW9;E9PMX5;E9PNM0;E9PPF8;E9PSE6;H0YDV1;O14628 AB209664;ABBA01032064;ABBA01032065;AC123788;AF003540;AF028728;AK095720;AK131296;AK290099;AK293679;AK308024;AK308068;AK308209;AL833722;AMYH01003346;BC121028;BC121029;BM462194;CH471158;CX867141;DA170927;DA618142;DA713258;DA765121;DA984929;DB294374;NG_032109;NM_001130519;NM_001130520;NM_001242841;NM_001242842;NM_001242843;NM_001256823;NM_001256824;NM_001256825;NM_007152;NR_040083;NR_046381;NR_046382 AAB86596;AAI21029;AAI21030;BAD18466;BAD92901;BAF82788;BAG53114;BAG57121;CAH56261;EAX02548;EAX02549;NP_001123991;NP_001123992;NP_001229770;NP_001229771;NP_001229772;NP_001243752;NP_001243753;NP_001243754;NP_009083;O14628 Hs.386294 1650216;2111950;2151441;2220626;5014051;5022578;5022651;5037552;5127439 D11S2921;D11S4731;D1S1423;D8S2278;D8S2279;G06188;SHGC-32486;UniSTS:486333;WI-22146 DKFZp666D035;HRF1;ZNFP104 OTTHUMP00000013400;OTTHUMP00000013401;OTTHUMP00000013402;OTTHUMP00000013403;OTTHUMP00000234234;OTTHUMP00000234235;OTTHUMP00000234236;OTTHUMP00000234237;OTTHUMP00000234238;OTTHUMP00000234239;OTTHUMP00000234240;OTTHUMP00000234242;OTTHUMP00000234254;OTTHUMP00000234259;OTTHUMP00000234386;hypoxia-regulated factor-1;krueppel family zinc finger protein (znfp104);zinc finger protein 195 APPROVED protein-coding ENSG00000005801 12986 03718 602187 REVIEWED 1349877 ZNF19 zinc finger protein 19 The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq, Jul 2008] 16 16 16 q22 55823828 55839105 - 70065477 70080755 - 71507976 71523254 - 1580863;6480464 7557990;16344560;15489334;14702039;12477932;8889548;2288909;1946370;1505991;17207965 7567 H3BMU5;H3BNH9;H3BNI0;H3BQ26;H3BQI6;H3BR98;J3KRI7;J3KSN3;J3KT56;P17023 ABBA01016777;AC010547;AK055567;AK057330;AK292260;AK311003;AL834237;AMYH01007788;BC047091;BM981699;CH471166;DB079697;M77171;NM_006961;X52343 AAA36814;AAH47091;ADQ32955;BAB70957;BAB71430;BAF84949;CAA36569;CAD38915;EAW59232;NP_008892;P17023 Hs.660076 1699404;1777973;2218888;5015619 D11S3114;RH103293;SHGC-64927;ZNF19__4974 KOX12;MGC51021 OTTHUMP00000174927;zinc finger protein 19;zinc finger protein 19 (KOX 12);zinc finger protein KOX12 APPROVED protein-coding ENSG00000157429 12981 01914 194525 REVIEWED 1349406 ZNF20 zinc finger protein 20 19 19 19 p13.2 12137188 12145525 - 12103803 12112140 - 12242165 12251222 - 1580863;6480464 16344560;14702039;12697996;12477932;8262519;2288909;16169070;10567577;22505724 7568 C9JIP4;F8WDZ5;M0QYR3;P17024 ABBA01029806;AC022415;AK023094;AL080125;AMYH01009489;AU152520;BC036714;BC045814;BM142273;CH471106;DB034821;DB057678;NM_001203250;NM_021143;X52344 AAH36714;AAH45814;BAB14401;CAA36570;CAB45723;EAW84260;NP_001190179;NP_066966;P17024 Hs.512823 1773004 D1S3038 FLJ39241;KOX13 OTTHUMP00000209846;OTTHUMP00000209847;zinc finger protein 20;zinc finger protein 20 (kox 13);zinc finger protein KOX13 protein-coding ENSG00000132010 12992 194557 VALIDATED 1320138 ZNF2 zinc finger protein 2 2 2 2 q11.2 90182375 90201252 + 95194910 95213792 + 95831183 95850065 + 1580863;6480464 1945843;15815621;15489334;14702039;12477932;10575230;8183940;21832049;23455924;8986806 7549 B0AZN8;B4DIR4;E9PCG2;E9PGF4;Q9BSG1 ABBA01003571;AC092835;AK055072;AK290798;AK295739;AK299058;AK315762;AK315829;AMYH01010684;BC005068;BC009976;CH471219;CR749650;NM_001017396;NM_021088;X60152;X60154 AAH05068;AAH09976;AAX88982;BAF83487;BAF98720;BAG38115;BAG58576;BAG61127;CAB52138;CAH18444;EAX10715;EAX10716;NP_001017396;NP_066574;Q9BSG1 Hs.590916 2107781;5014051;5015619;5037552 D11S3114;D8S2278;D8S2279;ZNF2_7905 A1-5;ZNF661;Zfp661 OTTHUMP00000207346;OTTHUMP00000207347;OTTHUMP00000207348;OTTHUMP00000207350;zinc finger protein 2;zinc finger protein 2 (a1-5);zinc finger protein 2.2;zinc finger protein 661 protein-coding ENSG00000163067 12991 11834 194500 VALIDATED 1347057 ZNF204P zinc finger protein 204, pseudogene This locus represents a transcribed pseudogene, possibly of ZNF79 (GeneID 7633). The protein encoded by this locus would have significant N-terminal truncation, and would lack the KRAB domain and the C2H2 type zinc finger domain, compared to ZNF79. [provided by RefSeq, Jun 2011] 6 6 6 p21.3 28931614 28949176 - 27433581 27447283 - 27325602 27343153 - 6480464 16344560;12477932;9628832 7754 Q5DTE4 ABBA01037994;AF033199;AK296042;AL021808;AL031118;AL833520;AMYH01016188;BC067282;BU173489;CD511209;CH471081;DA147897;DB031764;DB063011;NR_002722;NR_024553 BAG58806;CAI56717;EAX03093 Hs.8198 1650634;2136825;2137800;2157148;2161034;5037552;7183251 D6S1852;D6S2329;D6S2330;D8S2279;RH63711;U80586 ZNF184-Lp;ZNF204;ZNF315P;b24o18.1 APPROVED pseudo ENSG00000204789 12995 603282 VALIDATED 1349966 ZNF200 zinc finger protein 200 16 16 16 p13.3 3477989 3491117 - 3212343 3225410 - 3272325 3285457 - 1580863;6480464 17584299;16344560;14702039;12477932;9787081;9653642;9288094;8401585;20211142;19322201;19850743 7752 B3KP91;I3L1E4;P98182 AA338573;AB209219;ABBA01026735;AF060866;AJ003147;AK056010;AK315036;AMYH01007090;BC012909;BC025293;BC032575;BC054005;BI459882;BI822625;BU177850;CD697565;CH471112;DA757518;DB031650;NM_001145446;NM_001145447;NM_001145448;NM_003454;NM_198087;NM_198088;Y14443 AAC70008;AAH12909;AAH25293;AAH32575;AAH54005;ABZ92259;BAD92456;BAG51603;CAA05905;CAA74795;EAW85384;EAW85385;EAW85386;EAW85387;EAW85388;EAW85389;NP_001138918;NP_001138919;NP_001138920;NP_003445;NP_932353;NP_932354;P98182 Hs.632222 1668124;2155557;5016478;5016596;5037552 D8S2279;GDB:434012;GDB:631802;SHGC-60185;SHGC-7172 MGC45293 OTTHUMP00000159656;OTTHUMP00000159657;OTTHUMP00000159658;zinc finger protein 200 protein-coding ENSG00000010539 12993 04452 603231 VALIDATED 1346858 ZNF209P zinc finger protein 209, pseudogene 19 19 19 p12 22478737 22487151 + 22401608 22447337 + 22646725 22655138 + 9724325 441843 ABBA01051410;ABBA01051411;AC004004;AC025811;AMYH01009643;NG_021760 1749715 SHGC-111393 ZNF209 APPROVED pseudo 13000 INFERRED 7048123 ZNF205-AS1 ZNF205 antisense RNA 1 16 p13.3 3160461 3165599 - 12477932 81854 ABBA01026727;AC108134;AMYH01007089;BC001809;BC001824;BC020202;BC121099;BC121100;NR_024166;NR_024167 Hs.669490 1715037;5015961;5022322 D11S2560;D15S1477;RH119820 miscrna ENSG00000263214 28586 VALIDATED 1353784 ZNF202 zinc finger protein 202 11 11 q23.3 123100207 123117573 - 123594997 123612363 - 1580863;6480464 10748193;9790754;19336475;18652945;18523156;16467280;16415175;16289551;15489334;14702039;12477932;12444922;11279031;10747874;10508479;16189514;18472161;19875103;19913121;20628086;20211142;22944692 7753 E9PJL4;E9PM99;O95125 ABBA01031269;AF027218;AF027219;AF155101;AJ276177;AK023751;AK226047;AL162031;AMYH01004101;AP000868;BC013382;BC113104;CH471065;DQ093962;NM_003455 AAC79940;AAC79941;AAD42867;AAH13382;AAY88738;ADZ15352;BAG51223;CAB82384;CAC21447;EAW67553;EAW67554;NP_003446;O95125 Hs.112556 1658366;1660072;1677070;1756039;2138113;2147328;2149623 D11S4600;RH64948;SGC35198;SHGC-12982;SHGC-142850;STS-AA010085;WI-22370 ZKSCAN10;ZSCAN42 OTTHUMP00000231692;OTTHUMP00000231693;OTTHUMP00000231694;zinc finger protein 202;zinc finger protein with KRAB and SCAN domains 10 protein-coding ENSG00000166261 12994 04577 603430 VALIDATED 1312095 ZNF205 zinc finger protein 205 16 16 16 p13.3 3368041 3375998 + 3102564 3110519 + 3162563 3170518 + 1580863;6480464 16713569;9787081;16189514;15489334;12477932;16712791;18029348;21900206 7755 C9JEY6;C9JS60;I3L417;O95201 AB672633;ABBA01026727;AC108134;AF060865;AK313009;AMYH01007089;BC002810;BI826058;BM924902;CB152017;CH471112;HY135124;NM_001042428;NM_001278158;NM_003456 AAC70007;AAH02810;ADZ15429;BAG35845;BAM10952;EAW85396;EAW85397;EAW85398;EAW85399;EAW85400;EAW85401;NP_001035893;NP_001265087;NP_003447;O95201 Hs.592088 1715037;2112894;2165570 D16S3368;RH119820;STS-W93354 RhitH;ZNF210;Zfp13 OTTHUMP00000192908;OTTHUMP00000192909;OTTHUMP00000192911;transcriptional repressor RhitH;zinc finger protein 205;zinc finger protein 210 protein-coding ENSG00000122386 12996 04580 603436 VALIDATED 1350011 ZNF208 zinc finger protein 208 Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009] 19 19 19 p12 21981202 22026003 - 21940737 21985585 - 22148897 22193745 - 1580863;6480464 9724325;15469996;15057824;14702039;12477932;8467795 7757 M0QXL7;M0QYK4;M0R1F2;M0R293;M0R370;O43345 ABBA01051399;AC003973;AK096236;AMYH01009640;BC038199;CB997649;CH471106;NM_007153 AAB94784;EAW84911;EAW84912;EAW84913;NP_009084;O43345 Hs.732975 1783788;1851256;5016865;5113020 D17S1691;RH39204;RH80873;SHGC-112428 PMIDP;ZNF95 zinc finger protein 208;zinc finger protein 91-like;zinc finger protein 95 APPROVED protein-coding 12999 05998 603977 PROVISIONAL 1317710 ZNF207 zinc finger protein 207 17 17 17 q11.2 27587373 27607677 + 27701270 27721581 + 30677157 30697468 + 1580863;6480464 9799612;15635413;15489334;15146197;12477932;12840049;15576338;18029348;19615732;16055720;22939629;17332742;21139048;21906983;21628590 7756 H0Y3M2;J3KRB6;J3KRW6;J3KS31;J3KTL1;J3QRS9;J3QS27;O43670 AB209215;ABBA01000712;ABBA01000713;AC005899;AC026620;AC090616;AC116407;AF046001;AI308956;AK226172;AK291801;AK298950;AK309979;AL834501;AMYH01008336;BC000962;BC002372;BC008023;BT007365;CH471147;CN276833;NM_001032293;NM_001098507;NM_003457 AAC78561;AAH02372;AAH08023;AAP36029;ADZ15328;BAD92452;BAF84490;BAG61049;CAD39159;EAW80231;EAW80232;EAW80233;EAW80234;EAW80235;EAW80236;EAW80237;NP_001027464;NP_001091977;NP_003448;O43670 Hs.500775 1687475;1691186;1699714;1701474;1734468;1736672;1736698;1740151;5017679;5037552;5491545;5492003 D17S1432E;D17S1500E;D17S1516E;D17S1782;D8S2279;MARC_17513-17514:1016473117:1;RH103462;RH104369;RH48308;RH75233;ZNF207;ZNF207-1 DKFZp761N202 OTTHUMP00000163700;OTTHUMP00000163701;OTTHUMP00000163702;zinc finger protein 207 protein-coding ENSG00000010244 12998 04576 603428 VALIDATED 1351945 ZNF211 zinc finger protein 211 19 19 19 q13.4 55188111 55197720 + 62836396 62845948 + 58144535 58154147 + 1580863;6480464 12477932;9096115;7633419;16344560;17043677 10520 F5GY70;F5H771;H0Y3T8;Q2TAL7 AB209273;AB209847;ABBA01020805;AC003682;AK026941;AK294869;AK296942;AK297047;AK304666;AL559417;AMYH01010028;BC018138;BC034351;BC089440;BC110856;CH471135;DA745028;DA961612;DR002950;NM_001265597;NM_001265598;NM_001265599;NM_001265600;NM_006385;NM_198855;NR_049752;NR_049753;NR_049754;U38904 AAA93261;AAH34351;AAH89440;AAI10857;BAD92510;BAD93084;BAG57971;BAG59491;BAG59573;BAG65441;EAW72520;EAW72521;EAW72522;NP_001252526;NP_001252527;NP_001252528;NP_001252529;NP_006376;NP_942152;Q13398 Hs.590977 2164898;2167044 RH18297;STS-U38904 C2H2-25;CH2H2-25;MGC131841;ZNF-25;ZNFC25 OTTHUMP00000237576;OTTHUMP00000237580;OTTHUMP00000237582;zinc finger protein 211;zinc finger protein C2H2-25 protein-coding ENSG00000121417 13003 03512 601856 VALIDATED 1349128 ZNF214 zinc finger protein 214 11 11 11 p15.4 7139602 7160626 - 6977125 6998162 - 7020549 7041586 - 1580863;6480464 10762538;16344560;7959730;12477932;21448237 7761 Q9UL59 AA678604;ABBA01028675;AC100875;AF056617;AK313462;AMYH01003368;BC136772;BC144405;CH471064;DB262997;NM_013249 AAF00004;AAI36773;AAI44406;BAG36248;EAW68669;NP_037381;Q9UL59 Hs.733636 1647917;2111952 D11S1098;D11S4723 BAZ-1;BAZ1 BAZ 1;BWSCR2-associated zinc finger protein 1;OTTHUMP00000230469;zinc finger protein 214 protein-coding ENSG00000149050 13006 05424 605015 VALIDATED 1344334 ZNF215 zinc finger protein 215 11 11 11 p15.4 7066721 7098348 + 6904230 6935854 + 6947654 6979278 + 1580863;6480464 10762538;12477932;7959730 7762 Q96C84;Q9UL58 ABBA01028674;AC090160;AF056618;AK298365;AMYH01003368;BC014538;BX117423;CH471064;CN483744;NM_013250 AAF00005;AAH14538;BAG60607;EAW68671;NP_037382;Q9UL58 Hs.523457 1684672;2110807;2148109;5015861;5020948;5109281;7185938 D10S16;D1S1425;G35510;RH65576;RH98892;ZNF215_414 BAZ-2;BAZ2;ZKSCAN11;ZSCAN43 BAZ 2;BWSCR2-associated zinc finger protein 2;OTTHUMP00000230006;OTTHUMP00000230468;zinc finger protein 215;zinc finger protein with KRAB and SCAN domains 11 protein-coding ENSG00000149054 13007 05425 605016 VALIDATED 1317263 ZNF212 zinc finger protein 212 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 143605935 143621892 + 148567707 148583630 + 148936742 148952700 + 1580863;6480464 18255255;7633419;15489334;12853948;12690205;12477932;9847074;9169157;20211142 7988 B3KQE6;F2Z3G9;H7C589;H7C5A9;Q9UDV6 AACC02000041;ABBA01033628;AC004890;AI242662;AK074821;AK315086;AMYH01018119;BC022785;CH471146;NM_012256;U38864 AAC51296;AAD45826;AAH22785;ABZ92267;BAG37551;BAG52008;EAL24431;EAW80053;EAW80054;NP_036388;Q9UDV6 Hs.490510 1767455;1774746;2108663;2142918 D7S2048E;GDB:4585595;SGC31646;ZNF212_8773 C2H2-150;MGC9707;ZNF182;ZNFC150 OTTHUMP00000213752;OTTHUMP00000213756;Zinc finger protein C2H2-150;zinc finger protein 212 APPROVED protein-coding ENSG00000170260 13004 03859 602386 REVIEWED 1314237 ZNF213 zinc finger protein 213 C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004] 16 16 16 p13.3 3390538 3398418 + 3125140 3132806 + 3185057 3192805 + 1580863;6480464 16344560;15489334;14702039;12477932;10023065;9653642;8889548 7760 B4DMG6;I3L1Z4;I3L216;I3L2V8;I3L473;O14771 ABBA01026728;AC108134;AF017433;AK055337;AK289834;AK291789;AK297454;AMYH01007089;BC007287;BC007598;BC012772;BC080572;BM974318;CH471112;DA115503;DA811482;NM_001134655;NM_004220 AAB70531;AAH07287;ADZ15594;BAF82523;BAF84478;BAG59878;EAW85393;EAW85394;NP_001128127;NP_004211;O14771 Hs.115284 2112906 D16S3369 CR53;ZKSCAN21;ZSCAN53 putative transcription factor CR53;zinc finger protein 213;zinc finger protein with KRAB and SCAN domains 21 APPROVED protein-coding ENSG00000085644 13005 12224 608387 VALIDATED 1318226 ZNF217 zinc finger protein 217 20 20 q13.2 51617017 51633043 - 52183610 52199636 - 1580863;6480464 9671742;22728437;22843878;22593193;18425333;17572303;17130829;16940172;16203743;15756435;15489334;15302935;12845628;12493763;12477932;11780052;11245413;8134364;11171972;19754958;21059223;18625718;19242095;19403395;20429623;20661224;16079794;16140033;17967884;21483406;12700765;21908891;22139760;21139048;19322201;20467438;23436653;23251661;22815235 7764 A2A326;O75362;Q9BZ31 ABBA01052849;AF041259;AK290350;AL157838;AMYH01011991;BC039055;BC113427;CH471077;NM_006526 AAC39895;AAI13428;BAF83039;EAW75578;EAW75579;EAW75580;EAW75581;NP_006517;O75362 Hs.155040;Hs.711564 1687530;1793344;2124228;2166350 PMC21140P1;RH46361;RH92975;WI-9992 ZABC1 OTTHUMP00000031307;zinc finger protein 217 protein-coding ENSG00000171940 13009 04272 602967 VALIDATED 1353320 ZNF223 zinc finger protein 223 19 19 19 q13.2 41359645 41376279 + 49248004 49263982 + 44556164 44572142 + 1580863;6480464 10449920;12743021;12477932;8617494;21906983 7766 K7EPW2;K7EQ32;K7ER65;Q9UK11 ABBA01040872;ABBA01040873;AC084219;AC092072;AF187989;AK292327;AMYH01009842;BC022466;CH471126;DR761157;NM_013361;U46189 AAB03531;AAF04105;AAG23844;AAH22466;ABZ92261;ADZ15419;BAF85016;EAW57245;EAW57246;EAW57247;EAW57248;NP_037493;Q9UK11 Hs.720813 1706276;1777203 SHGC-80690;STS-U46189 Homo sapiens zinc finger protein 223;KRAB A domain;Zinc finger protein ZNF223;zinc finger protein 223 protein-coding ENSG00000178386 13016 15749 VALIDATED 1318379 ZNF22 zinc finger protein 22 10 10 10 q11 41499447 41503956 + 44815928 44820780 + 45496273 45500777 + 1580863;6480464 1946370;14630903;15489334;12477932;2288909;2014798;1639412;1505991;1421376;18029348;17207965;21832049;21139048;22505724 7570 P17026 ABBA01050024;AK291508;AK312278;AL353801;AMYH01002298;AU310379;AY137767;BC010642;BC026193;BC041139;BC053687;BT009806;CH471160;M77172;NM_006963;S50223;X52346 AAA36815;AAB24264;AAH10642;AAH41139;AAH53687;AAN15804;AAP88808;ADQ31618;BAF84197;CAA36572;EAW86632;EAW86633;NP_008894;P17026 Hs.462693;Hs.655124 1661678;1683215;1743167;2186565 GDB:280588;RH91090;WI-17820;WI-21656 HKR-T1;KOX15;ZNF422;Zfp422 OTTHUMP00000019498;krox-26 protein;zinc finger protein 22;zinc finger protein 22 (KOX 15);zinc finger protein KOX15;zinc finger protein Krox-26 APPROVED protein-coding ENSG00000165512 13012 01917 194529 VALIDATED 1347695 ZNF219 zinc finger protein 219 14 14 14 q11 1418766 1433427 - 20628045 20642703 - 21558205 21572863 - 1580863;6480464 10819330;17081983;16344560;15489334;14702039;14621294;14611647;12477932;8125298;20940257;19549071;16712791;21900206 51222 G3V2E3;G3V2Q8;G3V2W3;G3V3F2;G3V452;G3V4M7;G3V4T1;Q9P2Y4 AB015427;ABBA01061239;ABBA01061240;AK056261;AK225811;AK290700;AL161668;AMYH01005593;AMYH01005594;BC000694;BC036105;BT006956;CB152705;CH471078;DA013397;DC358466;NM_001101672;NM_001102454;NM_016423 AAH00694;AAH36105;AAP35602;BAA90526;BAF83389;EAW66404;EAW66405;EAW66406;EAW66407;NP_001095142;NP_001095924;NP_057507;Q9P2Y4 Hs.250493 1649278;1680789;2121138;2131019;2176507 RH44613;RH70501;RH92583;SGC34588;SHGC-31144 ZFP219 OTTHUMP00000164401;OTTHUMP00000218009;OTTHUMP00000245900;zinc finger protein 219 protein-coding ENSG00000165804 13011 05435 605036 VALIDATED 1347890 ZNF221 zinc finger protein 221 19 19 19 q13.2 41258930 41275263 + 49147237 49163592 + 44455397 44471752 + 1580863 15489334;15057824;12743021;12477932;10449920;15161980 7638 K7EIT6;Q9UK13 ABBA01040872;AC006213;AC035150;AF187987;AK314207;AMYH01009841;AMYH01009842;BC111981;BC113426;BC143659;CH471126;NM_013359 AAF04103;AAF63029;AAI11982;AAI13427;ABZ92253;BAG36883;EAW57237;NP_037491;Q9UK13 Hs.631598 MGC138186;MGC141986 zinc finger protein 221 protein-coding ENSG00000159905 13014 10323 VALIDATED 1345369 ZNF222 zinc finger protein 222 19 19 19 q13.2 41332976 41340744 + 49221356 49229100 + 44529494 44537263 + 1580863;6480464 16344560;15057824;14702039;12743021;12477932;1559709;18029348;21906983 7673 K7EN43;Q9UK12 ABBA01040872;AC067968;AF187988;AK095196;AMYH01009842;BC030261;CH471126;DB185422;M67508;NM_001129996;NM_013360 AAA36132;AAF04104;AAF66075;AAH30261;BAG53006;EAW57242;EAW57243;EAW57244;NP_001123468;NP_037492;Q9UK12 Hs.279840 1777203;2118262;2172415 RH12291;SGC35832;STS-U46189 zinc finger protein 222 protein-coding ENSG00000159885 13015 15748 VALIDATED 1350705 ZNF224 zinc finger protein 224 19 19 q13.2 49290337 49304317 + 44598482 44612479 + 1580863;6480464 17900823;15489334;15302935;12743021;12527367;12477932;12239212;10585455;2288909;20587513;16344560;19118814;19505435;19741270;20379614;20591825;20574532;16150558;21187159;15576338 7767 K7EJ30;K7EL24;K7ENI7;Q9NZL3 ABBA01040874;AC021092;AC084219;AC114266;AF067164;AF187990;AK292500;AMYH01009842;AY148489;BC002889;BC051902;CH471126;DA245440;NM_013398;X52353 AAD32448;AAF04106;AAF24968;AAG23845;AAH02889;AAH51902;AAN61121;ABZ92262;BAF85189;CAA36579;EAW57250;EAW57251;EAW57252;EAW57253;EAW57254;NP_037530;Q9NZL3 Hs.585869;Hs.744152 1690500;1694694;1714811;1734712;2174706;5015961;5017170 D15S1477;D19S701E;G43534;L29953;RH120072;RH79753;WI-21930 BMZF-2;BMZF2;KOX22;ZNF255;ZNF27 bone marrow zinc finger 2;zinc finger 2, bone marrow;zinc finger protein 224;zinc finger protein 233;zinc finger protein 255;zinc finger protein 27 (KOX 22);zinc finger protein KOX22;zinc finger protein ZNF255 protein-coding ENSG00000267680 13017 06094 194555 VALIDATED 1346174 ZNF225 zinc finger protein 225 19 19 19 q13.2 41421682 41441389 + 49309388 49329095 + 44617548 44637255 + 1580863;6480464 16344560;15489334;15057824;12743021;12477932;10737800;8125298 7768 K7ENA2;K7ENC8;K7ERU6;Q9UK10 ABBA01040874;AC021092;AC074331;AF027138;AF187991;AK223477;AK292437;AK302106;AK313301;AMYH01009842;BC108912;BQ373092;CH471126;DA537943;NM_013362 AAB84017;AAF04107;AAF24967;AAF88105;AAI08913;BAD97197;BAF85126;BAG63487;EAW57255;NP_037494;Q9UK10 Hs.279567 MGC119735 C2-H2 type zinc finger protein;zinc finger protein 225 protein-coding ENSG00000256294 13018 15750 VALIDATED 1353655 ZNF233 zinc finger protein 233 19 19 19 q13.31 41568152 41583542 + 49455916 49471308 + 44764033 44779470 + 737633;6480464 12477932 14702039;12743021;18029348;16344560;21078624;22505724 353355 A6NK53;K7EJE5;K7EJT0;K7EN46;K7ER86;Q9NS42 ABBA01040875;ABBA01040876;AC074331;AC138470;AK055310;AK095351;AMYH01009842;AY166792;BC047795;BC136734;BC136735;CH471126;CR743367;DA393180;DB071795;NM_001207005;NM_181756 A6NK53;AAF88106;AAI36735;AAI36736;AAO45841;BAG53032;EAW57263;EAW57264;EAW57265;EAW57266;NP_001193934;NP_861421 Hs.466891 1699286;2114340;2187440 D19S1007;RH103226;WI-22227 FLJ38032 zinc finger protein 233 protein-coding ENSG00000159915 30946 15756 VALIDATED 1348111 ZNF229 zinc finger protein 229 19 19 19 q13.31 41734424 41756654 - 49622266 49644505 - 44930426 44952665 - 1580863;6480464 15057824;14702039;12743021;12477932;20694014;16344560;21890473;23000965;22505724 7772 K7EIU5;K7EIU9;Q9UJW7 AB209357;ABBA01040878;AC084239;AC138473;AF192979;AK091541;AMYH01009842;AY166791;BC150612;CR936724;DA856295;NM_001278510;NM_014518;NR_103551 AAF07964;AAG23970;AAI50613;AAO45840;BAC03689;BAD92594;NP_001265439;NP_055333;Q9UJW7 Hs.709348 2160770 SHGC-36805 FLJ34222 zinc finger protein 229 protein-coding ENSG00000167383 13022 18324 VALIDATED 1351628 ZNF227 zinc finger protein 227 19 19 19 41520778 41545508 + 49408531 49433260 + 44716691 44741421 + 6480464 16582619;15489334;14702039;12743021;12477932;7865130;20562864;21900206 7770 B7Z5P9;K7EIL7;K7EIR9;K7EJ92;K7ELS1;K7EPR2;Q86WZ6 ABBA01040875;AC074331;AC138470;AK092253;AK299266;AK300576;AK311670;AK316048;AL833012;AMYH01009842;AY166786;AY500355;BC047570;CH471126;NM_182490 AAF88107;AAH47570;AAO45835;AAS55105;ADZ15642;BAG52509;BAH12985;BAH13308;BAH14419;CAH56268;EAW57261;EAW57262;NP_872296;Q86WZ6 Hs.298089 1778481 HSC2CF072 zinc finger protein 227 protein-coding ENSG00000131115 13020 15752 PROVISIONAL 1343710 ZNF226 zinc finger protein 226 19 19 19 q13.2 41473314 41485931 + 49361089 49373678 + 44669215 44681838 + 1580863;6480464 16344560;15489334;15057824;14702039;12743021;12477932;20211142;21890473;15161980 7769 B2RBM0;K7EJ66;K7EK05;K7EKQ6;K7EL77;K7ELA3;K7ELM4;K7EPU4;K7EQC3;K7ERY1;K7ESM6;Q9NYT6 ABBA01040874;AC074331;AC138470;AF024707;AF070666;AF228418;AF246126;AK023091;AK314554;AK314724;AMYH01009842;BC017786;BC024197;BI457780;BX091242;BX537487;BX648775;CD700800;CF596130;CH471126;DA178589;DA521074;DR002748;H96353;NM_001032372;NM_001032373;NM_001032374;NM_001146220;NM_015919 AAB81097;AAD20972;AAF34786;AAF76875;AAF88103;AAH17786;AAH24197;ABZ92263;ADR82702;BAB14398;BAG37139;BAG37267;EAW57258;EAW57259;EAW57260;NP_001027544;NP_001027545;NP_001027546;NP_001139692;NP_057003;Q9NYT6 Hs.145956 1655031;1768971;2149381;5022578;5022651 D11S2921;D1S1423;G30946;RH78817;STS-AA007349 Kruppel-associated box protein;zinc finger protein 226 protein-coding ENSG00000167380 13019 15751 VALIDATED 1316246 ZNF23 zinc finger protein 23 16 16 16 q22.2 55797355 55811972 - 70039001 70053618 - 71481500 71496117 - 1580863;6480464 18384939;17137575;15489334;14702039;12477932;12127974;8500793;7865130;2288909;20211142;21832049;21965783 7571 H0Y310;H3BMC6;H3BPE6;P17027;Q8NDP5 ABBA01016777;AC010547;AF024709;AF226996;AF507946;AK091039;AK297130;AL080123;AL833815;AMYH01007787;AY500362;BC007256;BC048974;BT007400;BX537507;NM_145911;X52347 AAB81099;AAH07256;AAH48974;AAK28321;AAM33359;AAP36064;AAS55112;BAG52267;BAG59634;CAA36573;CAB45722;CAD38678;CAD97769;NP_666016;P17027 Hs.656643 1856531;2173468 SHGC-36642;SHGC-61087 KOX16;MGC57283;ZNF359;ZNF612;Zfp612 OTTHUMP00000174920;OTTHUMP00000174921;kruppel-like zinc finger factor X31;zinc finger protein 23;zinc finger protein 23 (KOX 16);zinc finger protein 32;zinc finger protein 359;zinc finger protein 612;zinc finger protein KOX16 APPROVED protein-coding ENSG00000167377 13023 01915 194527 PROVISIONAL 1343277 ZNF230 zinc finger protein 230 19 19 19 q13.31 41310560 41321557 + 49198917 49209912 + 44507077 44518072 + 1580863;6480464 18676680;18584306;15952109;15640038;15489334;15057824;14702039;12743021;12477932;11672448;19170196;19625176;19684603;19692168;20379614;17043677 7773 K7EJU4;K7ELA7;K7EMK6;Q9UIE0 ABBA01040872;AC006213;AC018725;AC067968;AF024701;AK056865;AMYH01009842;BC030810;BC050340;BC066950;BC094708;CH471126;NM_006300;U95044 AAB62180;AAB81091;AAF18685;AAF66074;AAH50340;AAH94708;ABZ92264;EAW57241;NP_006291;Q9UIE0 Hs.193583 2108665;5022200;5022588;5022651 D11S2921;D5S1597E;L18426;ZNF230_8758 FDZF2 zinc finger protein 230;zinc finger protein FDZF2 protein-coding ENSG00000159882 13024 15754 VALIDATED 1342563 ZNF240 zinc finger protein 240 22968 13033 1350286 ZNF241 zinc finger protein 241 22967 13034 1354485 ZNF242 zinc finger protein 242 22966 13035 1352424 ZNF243 zinc finger protein 243 22965 13036 1347552 ZNF244 zinc finger protein 244 22964 13037 1346616 ZNF245 zinc finger protein 245 22963 13038 1342619 ZNF246 zinc finger protein 246 22962 13039 1344707 ZNF247 zinc finger protein 247 22961 13040 1351576 ZNF232 zinc finger protein 232 17 17 17 p13.2 5026656 5044028 - 4949755 4967121 - 5009031 5026397 - 1580863;6480464 16189514;15489334;14702039;12477932;11311944;8125298;20211142 7775 B4DP49;I3L4H6;I3L4J6;Q9UNY5 ABBA01054794;ABBA01054795;AC012146;AF080169;AF080170;AF080171;AK057506;AK225622;AK297835;AK298190;AK316369;AMYH01008047;BC016039;BQ641476;CH471108;NM_014519;Y15067 AAD46135;AAH16039;ABZ92452;BAG51923;BAG60169;BAG60461;BAH14740;CAB95963;EAW90358;NP_055334;Q9UNY5 Hs.279914 1730309;2108667;2129664;2170514;2170516;2174105;5107548 A006J03;D17S611;D17S826E;G20862;RH41805;STS-D29561;ZNF232_8759 ZSCAN11 OTTHUMP00000125302;zinc finger and SCAN domain-containing protein 11;zinc finger protein 232 protein-coding ENSG00000167840 13026 15755 VALIDATED 1350303 ZNF249 zinc finger protein 249 22959 13042 1320136 ZNF236 zinc finger protein 236 18 18 18 q22-q23 71352360 71499717 + 72665104 72811671 + 74536116 74682683 + 1580863;6480464 18029348;19240061;12906866;10458916;9299475;12477932;19690890;22505724 7776 J3QQL1;J9JID5;Q9UL36 AB208834;ABBA01015286;ABBA01015287;ABBA01015288;ABBA01015289;ABBA01015290;ABBA01015291;AC027575;AC093330;AF083213;AF085243;AF085244;AMYH01009113;BC140859;BX648028;CH471117;NM_007345 AAC72200;AAD55328;AAD55329;AAI40860;BAD92071;EAW66587;NP_031371;Q9UL36 Hs.719137 1654678;1656863;1660801;1752533;1769217;1850607;1850609;2108669;2120760;2159429 A005Q43;D18S1036;D18S1227;G20425;RH35982;RH46874;SHGC-106421;STS-H93452;WI-19917;ZNF236_8760 ZNF236A;ZNF236B regulated by glucose;zinc finger protein 236 protein-coding ENSG00000130856 13028 05301 604760 VALIDATED 1349221 ZNF248 zinc finger protein 248 10 10 10 p11.2 37888679 37917261 - 38157905 38186492 - 38065454 38147012 - 1580863;6480464 12566394;12477932;16385451;19553259;22505724 57209 A2RUI7;B1AL40;B1AL42;Q8NDW4 AA836603;ABBA01033294;ABBA01033295;ABBA01033296;AJ245586;AJ245587;AJ491695;AJ492196;AK293936;AK293971;AK299357;AL049341;AL132657;AL135791;AMYH01002259;BC021819;BC110869;BC132915;BC132917;BC146820;CH471072;DA128760;DB073240;NM_001267597;NM_001267605;NM_001267606;NM_001267607;NM_021045 AAH21819;AAI10870;AAI32916;AAI32918;AAI46821;BAG57314;BAG57343;BAG61352;CAB52478;CAB52547;CAD36954;CAD37332;EAW85896;EAW85897;EAW85898;EAW85899;NP_001254526;NP_001254534;NP_001254535;NP_001254536;NP_066383;Q8NDW4 Hs.528423;Hs.742118 1652254;2153191 RH69231;WI-11092 KIAA0137;MGC131882;bA162G10.3 KRAB protein domain;Kruppel-type zinc finger protein;OTTHUMP00000019461;OTTHUMP00000019462;OTTHUMP00000019463;OTTHUMP00000019464;bA162G10.3 (zinc finger protein);zinc finger protein 248 protein-coding ENSG00000198105 13041 15757 VALIDATED 1344990 ZNF234 zinc finger protein 234 19 19 19 q13.31 41449810 41468561 + 49337618 49354127 + 44645710 44664462 + 1580863;6480464 15489334;12743021;12477932;7865130;18029348;19322201;18624398 10780 K7ELL2;Q14588 ABBA01040874;AC021092;AC074331;AC138470;AF027142;AF027143;AF228417;AK289843;AK314064;AMYH01009842;AY166787;AY166788;BC007303;CH471126;NM_001144824;NM_006630;X78927 AAB84021;AAB84022;AAF34785;AAF88104;AAH07303;AAO45836;AAO45837;BAF82532;CAA55527;EAW57256;EAW57257;NP_001138296;NP_006621;Q14588 Hs.235992 1730307;1748493;5014029;5022651;5037554;7183718;7184685 D11S2921;D13S1639;D19S239E;D8S2282;SHGC-340 HZF4;ZNF269 C2-H2 type zinc finger protein;Homo sapiens zinc finger 234;zinc finger protein 234;zinc finger protein 234, partial sequence;zinc finger protein 269;zinc finger protein 4;zinc finger protein HZF4 protein-coding 13027 09206 604750 VALIDATED 1350686 ZNF235 zinc finger protein 235 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008] 19 19 19 q13.2 41594584 41613264 - 49482440 49501010 - 44790501 44809178 - 6480464 15489334;12477932;9570955;8617494;7865130;21549307;21900206;22505724 9310 K7EKI9;K7EL19;K7ES94;K7ESF8;Q14590 ABBA01040876;AC084239;AC092477;AC138470;AC138473;AF027513;AF027514;AK300317;AK307103;AK315242;AMYH01009842;BC002663;BC002800;BC105807;BC117215;BC143482;BC143484;CH471126;NM_004234;X78929 AAD12728;AAD12729;AAG23969;AAI05808;AAI17216;BAG62069;CAA55529;EAW57267;NP_004225;Q14590 Hs.724032;Hs.742156 1783774;1783858;2149006 G31557;SHGC-106960;SHGC-84207 ANF270;HZF6;ZFP93;ZNF270 zfp-93;zinc finger protein 235;zinc finger protein 270;zinc finger protein 6;zinc finger protein 93 homolog;zinc finger protein HZF6;zinc finger protein homologous to Zfp93 in mouse;zinc finger protein homologous to mouse Zfp93 APPROVED protein-coding ENSG00000159917 12866 05299 604749 REVIEWED 1351594 ZNF239 zinc finger protein 239 MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008] 10 10 10 q11.22-q11.23 40055429 40073702 - 43371798 43390072 - 44051792 44070066 - 1580863;6480464 9121460;19490114;17760566;17081983;16344560;15489334;15057824;12477932;12409453;8903737;8587123;16385451;19913121;20628086;20641033;22318606 8187 Q16600 ABBA01050012;AK292013;AL450326;AMYH01002293;BC026030;CH471160;DA686973;DA937379;NM_001099282;NM_001099283;NM_001099284;NM_005674;X82125;X82126;X82128 AAH26030;ABZ92270;BAF84702;CAA57637;CAA57638;EAW86602;EAW86603;EAW86604;NP_001092752;NP_001092753;NP_001092754;NP_005665;Q16600 Hs.25040 1681490;2107779;2176683 G17516;RH79937;ZNF239__4989 HOK-2;MOK2 OTTHUMP00000019483;OTTHUMP00000019484;zinc finger protein (C2H2) homologous to mouse MOK-2;zinc finger protein 239;zinc finger protein HOK-2;zinc finger protein MOK-2 APPROVED protein-coding ENSG00000196793 13031 03044 601069 VALIDATED 1349906 ZNF250 zinc finger protein 250 8 8 8 q24.3 142278872 142303378 - 146075775 146097616 - 146102336 146126846 - 737633;1580863;6480464 12477932 16344560;16189514;15489334;14702039;20360068;21900206 58500 B3KNS9;E9PJU7;E9PKP2;E9PL28;E9PPG5;E9PQX5;F6RA56;P15622;Q3B7J8 AB208810;ABBA01005194;AF235103;AK054888;AK095705;AK294282;AMYH01019163;BC017091;BC107579;BX648173;CA422363;CH471162;DB206757;DB272357;DC314684;NM_001109689;NM_021061;X16282 AAH17091;AAI07580;BAC04614;BAD92047;BAG51441;BAG57567;CAA34358;EAW82029;EAW82030;EAW82031;EAW82032;NP_001103159;NP_066405;P15622 Hs.532277 1732013;1850928;1855908;2159346;5015404;5015619;5015961;5022425;5022450;5037552 D10S275;D11S3114;D15S1477;D22S296;D8S2279;D8S595;L17705;SHGC-12722;STS-N33590;WI-14009 FLJ57354;MGC111123;MGC9718;ZFP647;ZNF647 OTTHUMP00000229080;OTTHUMP00000229081;OTTHUMP00000229082;OTTHUMP00000229083;OTTHUMP00000229084;OTTHUMP00000229085;OTTHUMP00000229086;zinc finger protein (clone 647);zinc finger protein 250;zinc finger protein 647 protein-coding ENSG00000196150 13044 15758 VALIDATED 1344102 ZNF24 zinc finger protein 24 18 18 q12 31169957 31178405 - 32912178 32924426 - 1580863;6480464 16169070;10585455;17270462;16189514;15592455;15561718;15489334;12477932;10567577;2288909;2004757;14499622;18472161;22213192;14702039;19060904;19463170;19544452;19615732;20453000;18029348;20211142;20510677;20562859;19471022;21532573;21549307;21693764;21906983;22939629;22678762;23212515 7572 K7EPL1;K7EPZ8;K7EQP8;P17028 ABBA01022450;AC116447;AF016052;AF038964;AF542097;AK021966;AK291246;AMYH01008936;BC003566;BC016801;BT006658;CH471088;CR450328;NM_006965;U68536;X52348 AAB37275;AAB70216;AAD19827;AAH03566;AAH16801;AAN40767;AAP35304;ADR82721;BAF83935;CAA36574;CAG29324;EAX01348;EAX01349;EAX01350;NP_008896;P17028 Hs.514802 1684894;1699988;1854712;2114890;2127499;2178865;5019769;5106282 A009Q31;D18S1233;G32784;RH103604;RH48366;RH91536;SHGC-37487;STS-W73139 KOX17;RSG-A;ZNF191;ZSCAN3;Zfp191 OTTHUMP00000163383;lacks zinc finger domain;retinoic acid suppression protein A;zinc finger and SCAN domain-containing protein 3;zinc finger protein 191;zinc finger protein 24;zinc finger protein 24 (KOX 17);zinc finger protein KOX17 protein-coding ENSG00000172466 13032 01921 194534 VALIDATED 2303889 ZNF252P-AS1 ZNF252P antisense RNA 1 8 8 8 q24.3 142405233 142408468 + 146199177 146231895 + 146228197 146231432 + 14702039;12477932 286103 Q0IIN9 ABBA01005192;AF235103;AK092777;AMYH01019164;BC046439;BC122544;BX104600;NR_026974 BAC03974;Q0IIN9 Hs.359978 C8orf77;MGC141859 APPROVED miscrna ENSG00000255559 27821 VALIDATED 1344079 ZNF25 zinc finger protein 25 10 10 10 p11.1 38009589 38036247 - 38278801 38305459 - 38238795 38265453 - 1580863;6480464 15489334;14702039;12566394;12477932;10942432;8464732;2288909;1639412;16385451;22505724 219749 B1AKS7;P17030 ABBA01033291;AJ491696;AK056452;AK056635;AK091378;AK122958;AL117337;AL834125;AL834244;AMYH01002260;BC036038;CH471072;NM_145011;X52350 AAH36038;ABZ92547;BAB71187;CAA36576;CAD36955;CAD38845;EAW85895;NP_659448;P17030 Hs.499429 1682563;1689903;1742261 GDB:193877;RH44706;RH66187 DKFZp564C206;FLJ31890;KOX19;Zfp9 OTTHUMP00000020828;OTTHUMP00000020829;zinc finger protein 25;zinc finger protein 25 (KOX 19);zinc finger protein KOX19 protein-coding ENSG00000175395 13043 01916 194528 PROVISIONAL 1345050 ZNF252P zinc finger protein 252, pseudogene 8 8 8 q24.3 142376018 142405321 - 146169779 146196311 - 146198975 146228285 - 1580863;6480464 16344560;12477932;8889548 286101 ABBA01005192;AF235103;AK027662;AK128723;AK294723;AK296398;AMYH01019164;BC016287;BC019922;BC051730;BC065734;BI254488;BX478460;CA311045;CF145574;DA489661;DB233439;NR_023392 BAG57870;BAG59065 Hs.367856 1668899;1679916;1690746;2138936;5024761 A002E08;A002P02;RH36905;RH44072;RH65120 ZNF252 APPROVED pseudo 13046 VALIDATED 1349092 ZNF259P1 zinc finger protein 259 pseudogene 1 6 6 6 q21 109852594 109854164 - 109213585 109214949 - 109106692 109108262 - 442240 ABBA01026142;AMYH01016580;CR627448;NG_009460;Z95118 Hs.626676 1672575;1694180;2004476 AL008751;REN73150;SHGC-30085 354J5;ZNF259P APPROVED pseudo 13052 INFERRED 1348327 ZNF253 zinc finger protein 253 19 19 19 p13.11 19882103 19909687 + 19837714 19865293 + 19976714 20004293 + 1580863;6480464 10585455;12477932;22505724 56242 K7EP55;O75346 ABBA01051343;AC011477;AF038951;AK074757;AK074872;AMYH01009612;BC014148;BC022891;BC053607;BC065572;BC125063;BC125064;CH471106;NM_021047 AAC26844;AAH14148;AAH65572;AAI25064;AAI25065;BAC11185;BAC11257;EAW84863;EAW84864;NP_066385;O75346 Hs.301059 1783842;2220430;5037552;7186918 D8S2279;ERV3;SHGC-172287;UniSTS:481985 BMZF-1;BMZF1;FLJ90391;ZNF411 DNA-binding protein;bone marrow zinc finger 1;zinc finger protein 253;zinc finger protein 411 protein-coding 13497 06093 606954 PROVISIONAL 1322438 ZNF251 zinc finger protein 251 8 8 8 q24.3 142123518 142158192 - 145917103 145951775 - 145946294 145980970 - 1580863;6480464 16344560;15489334;14702039;12477932;8889548;18029348;20379614;16484223;22990118 90987 H0YCK5;Q9BRH9 ABBA01005195;AF186192;AK000435;AK027286;AK091638;AMYH01019162;BC006258;BC093984;BC112137;BU674002;BX509447;CH471162;DA775010;DA811573;NM_138367 AAH06258;AAI12138;EAW82060;NP_612376;Q9BRH9 Hs.534516 1786830;1786856;5493153 SHGC-172447;SHGC-172477;UniSTS:484467 FLJ34319 OTTHUMP00000228824;zinc finger protein 251 protein-coding ENSG00000198169 13045 VALIDATED 1352745 ZNF256 zinc finger protein 256 19 19 19 q13.43 55495677 55502553 - 63144013 63150889 - 58452201 58459077 - 1580863;6480464 10585455;18060868;15489334;12878157;12477932;21890473 10172 M0R2X0;Q9Y2P7 ABBA01020789;ABBA01020790;AC010326;AF067165;AK314094;AMYH01010031;AU280306;BC001438;BT006853;CD656453;CH471135;NM_005773 AAD32449;AAH01438;AAP35499;BAG36789;EAW72544;NP_005764;Q9Y2P7 Hs.596242 BMZF-3;BMZF3 bone marrow zinc finger 3;zinc finger protein 256 protein-coding ENSG00000152454 13049 06095 606956 VALIDATED 1342555 ZNF257 zinc finger protein 257 19 19 19 q13 22067516 22106156 + 22027106 22065745 + 22235266 22273905 + 1580863;6480464 10585455;14702039;12477932;22505724 113835 M0QXX9;M0QYA6;M0R0N1;M0R321;Q9Y2Q1 ABBA01051399;ABBA01051400;ABBA01051401;AC003973;AC011482;AF070651;AK056694;AMYH01009640;BC020045;BC036446;BI553764;CH471106;NM_033468 AAD20957;AAH36446;ABZ92090;BAG51786;EAW84915;EAW84916;EAW84917;NP_258429;Q9Y2Q1 Hs.283900 1337278;2132874;2220430;2220626;5022651;7183711;7186918 D11S2921;D19S407;D1S2081;ERV3;UniSTS:481985;UniSTS:486333 BMZF-4;BMZF4 bone marrow zinc finger 4;zinc finger protein 257 protein-coding ENSG00000197134 13498 06096 606957 PROVISIONAL 1350215 ZNF254 zinc finger protein 254 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002] 19 19 19 p12 24116905 24159422 + 24061816 24104494 + 24269976 24312654 + 1298632;1580863;6480464 9653160 10585455;15489334;12477932;11042152;23006423;22505724;12821146;14702039;15146197;16344560;8889548 9534 F5H2M4;M0QZY2;M0R2X5;O75437;Q7Z2R1 ABBA01051454;AC073534;AC092279;AF054180;AK092080;AK092150;AK092820;AK291286;AK303431;AL832713;AMYH01009661;AW503073;BC043147;BC044906;BC056243;BC139749;BM876253;BM976089;BU783464;BX281205;CH471106;CN267605;CN395850;DA101675;DA195951;DA230395;DA501852;DA684942;DA852860;DB286139;DB340394;DB539972;NM_001278661;NM_001278662;NM_001278663;NM_001278664;NM_001278665;NM_001278677;NM_001278678;NM_203282;XR_158944;XR_158945;XR_159310;XR_159311;XR_172276 AAC39913;AAH43147;AAH56243;AAI39750;BAF83975;BAG64481;EAW84960;EAW84961;NP_001265590;NP_001265591;NP_001265592;NP_001265593;NP_001265594;NP_001265606;NP_001265607;NP_975011;O75437 Hs.434406;Hs.729302 1685151;5113020;7186918 ERV3;RH68576;RH80873 BMZF-5;FLJ58216;HD-ZNF1;ZNF539;ZNF91L bone marrow zinc finger 5;hematopoietic cell-derived zinc finger protein 1;hematopoietic-derived zinc finger protein;zinc finger protein 254;zinc finger protein 539;zinc finger protein 91-like APPROVED protein-coding ENSG00000213096;ENSG00000268362 13047 05304;15826 604768 VALIDATED 1323503 ZNF259 zinc finger protein 259 11 11 q23.3 116154486 116163949 - 116649276 116658739 - 1580863;6480464 9763455;22623978;8650580;18193044;17068332;16236267;15767679;15489334;12477932;12095920;10938113;9852145;16169070;20657596;18179892;18193043;19060906;20442857;20691829;19913121;20628086;20864672;21378990;21386085;22863883;22939629;22437554;23505323;21139048;21890473;21906983;20686565;21729881;21909109;22003152;22359512;22399527;22916037;22053931;22505724;21963094;21988832;23251661 8882 F8WBC5;H7BZM7;H7BZS1;H7C0E5;H7C449;O75312 ABBA01039747;ABBA01039748;AF019767;AK301227;AMYH01004054;AP006216;BC004256;BC011929;BC012162;BC017349;BC017380;BC111028;BT006642;CH471065;NM_003904 AAC33514;AAH04256;AAH12162;AAH17349;AAH17380;AAI11029;AAP35288;BAG62800;EAW67267;EAW67268;NP_003895;O75312 Hs.7165 1650930;1672575;1694180;1799606;1801316;1805704;1806114;1820262;1824246;1824706;1826576;1826668;1826864;1828132;1830118;1834922;2004392;2004394;2004396;2004398;2004400;2004402;2004404;2004406;2004408;2004410;2004412;2004414;2004416;2004418;2004420;2004422;2004424;2004426;2004428;2004430;2004432;2004434;2004436;2004438;2004440;2004442;2004444;2004446;2004448;2004450;2004452;2004454;2004456;2004458;2004460;2004462;2004464;2004466;2004468;2004470;2004472;2004474;2004476;2004478;2004480;2004482;2096898;2096900;2096902;2096904;2096906;2096908;2096910;2096912;2096914 AL008751;D11S1169;ECD00655;ECD01530;ECD03802;ECD04011;ECD11205;ECD13220;ECD13451;ECD14402;ECD14448;ECD14547;ECD15189;ECD16192;ECD18612;REN73108;REN73109;REN73110;REN73111;REN73112;REN73113;REN73114;REN73115;REN73116;REN73117;REN73118;REN73119;REN73120;REN73121;REN73122;REN73123;REN73124;REN73125;REN73126;REN73127;REN73128;REN73129;REN73130;REN73131;REN73132;REN73133;REN73134;REN73135;REN73136;REN73137;REN73138;REN73139;REN73140;REN73141;REN73142;REN73143;REN73144;REN73145;REN73146;REN73147;REN73148;REN73149;REN73150;REN73151;REN73152;REN73153;SHGC-30085;stSG601767;stSG601768;stSG601769;stSG601770;stSG601771;stSG601772;stSG601773;stSG601774;stSG601775 MGC110983;ZPR1 OTTHUMP00000043269;OTTHUMP00000069349;OTTHUMP00000069350;zinc finger protein ZPR1 protein-coding 13051 04877 603901 PROVISIONAL 1347458 ZNF26 zinc finger protein 26 12 12 12 q24.33 133263250 133289352 + 132073129 132099226 + 133562934 133589154 + 6480464 15489334;14702039;12477932;8125298;2288909;2026422;15146197;16344560;8889548 7574 F5GZ77;F5H2P7;F5H6R4;P17031 ABBA01042534;ABBA01042535;AC073911;AK000762;AK122941;AK225296;AK291243;AL833057;AMYH01004923;BC008211;BC046206;BM718210;BT006963;BU194644;CH471218;CN268178;DA107937;DA737586;NM_001256279;NM_001256280;NM_019591;X52351 AAH08211;AAH46206;AAP35609;BAA91367;BAF83932;CAA36577;CAH56341;EAW54803;EAW54804;NP_001243208;NP_001243209;NP_062537;P17031 Hs.489608 1689502;1750743;1846586;2110081;2148414;5020740;5022463;5037552 A008W21;D3S1673;D8S2279;L17809;RH91867;SHGC-34172;STS-R55615;ZNF26_8732 FLJ20755;KOX20 OTTHUMP00000237380;OTTHUMP00000237381;OTTHUMP00000237382;OTTHUMP00000237383;zinc finger protein 26;zinc finger protein 26 (kox 20);zinc finger protein KOX20 protein-coding ENSG00000198393 13053 01922 194537 VALIDATED 1349417 ZNF27 zinc finger protein 27 (KOX 22) 1580863 7575 P17033 X52353 13063 1606913 ZNF260 zinc finger protein 260 19 19 19 q13.12 33786507 33804162 - 41693434 41711010 - 37001589 37019248 - 6480464 16166646;15489334;14702039;12477932;7829101;16344560;18029348;21890473 339324 A8K5X7;Q3ZCT1 ABBA01016205;AC092295;AK122854;AK123830;AK291442;AMYH01009750;BC042676;BC119003;BC122549;BI493993;BQ938102;DB283305;NM_001012756;NM_001166036;NM_001166037;NM_001166038 AAH42676;AAI19004;AAI22550;BAF84131;NP_001012774;NP_001159508;NP_001159509;NP_001159510;Q3ZCT1 Hs.18103 1856047;2164275 RH69683;WI-11537 PEX1;ZFP260 OTTHUMP00000225000;zfp-260;zinc finger protein 260 protein-coding ENSG00000254004 13499 18505 613749 VALIDATED 1316415 ZNF263 zinc finger protein 263 16 16 16 p13.3 3539149 3547122 + 3273488 3281461 + 3333487 3341460 + 1580863;6480464 9256059;15616553;15489334;12477932;8586417;16189514;19887448;20211142;18029348 10127 B4DI05;I3L0N0;I3L2X3;I3L393;I3L4C4;I3L538;I3NI39;O14978 ABBA01026739;AC004232;AK312421;AMYH01007092;BC008805;CH471112;D88827;NM_005741 AAC24490;AAH08805;ADZ15706;BAA21853;BAG35331;EAW85378;EAW85379;EAW85380;NP_005732;O14978 Hs.611475 1737593;2110077;2112890;2138812;2138814 A001U12;D16S2676;D16S3374;G19656;ZNF263_9047 FPM315;ZKSCAN12;ZSCAN44 OTTHUMP00000159669;zinc finger protein 263;zinc finger protein FPM315;zinc finger protein with KRAB and SCAN domains 12 protein-coding ENSG00000006194 13056 05008 604191 VALIDATED 1348682 ZNF264 zinc finger protein 264 This gene encodes a zinc finger protein and belongs to the krueppel C2H2-type zinc-finger protein family. Zinc finger proteins are often localized in the nucleus, bind nucleic acids, and regulate transcription. [provided by RefSeq, Jan 2010] 19 19 19 q13.4 54746160 54777510 + 62394681 62426026 + 57702868 57734214 + 1580863;6480464 16344560;16341674;15592455;15057824;14702039;12477932;11543637;9455477;20562864;21732829;19322201;22505724 9422 M0QXF3;M0QZJ4;M0QZT5;M0R146;O43296 AB007872;ABBA01020815;ABBA01020816;AC005261;AC025588;AK097167;AK292504;AMYH01010027;BC115410;BC115411;BF063192;BM739537;BQ020432;CH471135;DA331461;NG_016432;NM_003417 AAF42766;AAI15411;AAI15412;BAA24842;BAF85193;EAW72483;EAW72484;NP_003408;O43296 Hs.515634 1644384;1698618;1730305;1855254;2133252;2167995;5015861;5015961;5020740;5020946;5022588;5037552;5109663;7185938;7186485 A006Q12;D10S16;D15S1477;D19S230E;D19S600;D19S660E;D5S1597E;D7S2067E;D8S2279;L17809;L17971;RH102864;SHGC-54207 zinc finger protein 264 APPROVED protein-coding 13057 05237 604668 REVIEWED 1352902 ZNF266 zinc finger protein 266 This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012] 19 19 19 p13.2 9418730 9441693 - 9384271 9407234 - 9523102 9546254 - 1580863;6480464 16628192;15489334;14702039;12477932;7865130;16344560;20601676;21468593;19763908;21874239;21900206;17210253 10781 K7EQP7;Q14584 AB095928;ABBA01029976;ABBA01029977;ABBA01029978;AC011451;AK027480;AL533858;AL833471;AL833503;AMYH01009461;AY376240;BC017407;BC071628;BC112919;BC126255;BC143940;BC146837;BQ015374;BX471437;BX472300;CH471106;CN484252;DA735170;NM_001271314;NM_006631;X78924 AAH17407;AAH71628;AAI12920;AAI26256;AAI46838;AAQ82907;ABZ92299;ADR83205;BAC23104;CAA55524;EAW84033;EAW84034;EAW84035;EAW84036;NP_001258243;NP_006622;Q14584 Hs.656185;Hs.743560 1770185;1848692;2110079;2174504;5016478;5022450;5022578;5109281 A008Z15;D10S275;D1S1423;D1S1425;GDB:434012;RH66800;SHGC-33755;ZNF266_9178 HZF1 zinc finger protein 1;zinc finger protein 266;zinc finger protein HZF1 APPROVED protein-coding ENSG00000174652 13059 06882 604751 REVIEWED 1347350 ZNF268 zinc finger protein 268 12 12 q24.33 132268068 132289534 + 133757995 133783698 + 1580863;6480464 11311945;18949428;18774934;18677094;18375384;16865230;16787922;16735226;15547661;14702039;12822888;12477932;7865130;15146197;16344560;23091055;22235304 10795 E7EV44;F5H1T2;F5H467;F5H670;F5H6R9;F5H7L3;F5H848;K7EIF0;K7EMS0;K7EMS6;K7EQD8;K7EQP6;Q14587;Q2TB61;Q8TDG8 ABBA01042527;ABBA01042528;AC026786;AC226150;AF141655;AF317549;AF385187;AF432217;AK027712;AMYH01004923;AW138703;AY583691;BC058548;BC110542;CH471218;CN255799;DB079580;DQ057356;DQ057357;DQ057358;DQ057359;DQ057360;DQ057361;NM_001165881;NM_001165882;NM_001165883;NM_001165884;NM_001165885;NM_001165886;NM_001165887;NM_003415;NM_152943;X78926 AAG39638;AAG59817;AAI10543;AAK69307;AAL99923;BAG51369;CAA55526;EAW54786;EAW54787;EAW54788;EAW54789;NP_001159353;NP_001159354;NP_001159355;NP_001159356;NP_001159357;NP_001159358;NP_001159359;NP_003406;NP_694422;Q14587 Hs.124047 1736240;2171345 D12S1186E;D12S2117 HZF3;MGC126498 OTTHUMP00000237414;OTTHUMP00000237415;OTTHUMP00000237417;OTTHUMP00000237419;zinc finger protein 268;zinc finger protein 3;zinc finger protein HZF3 protein-coding ENSG00000090612 13061 05300 604753 VALIDATED 1343571 ZNF267 zinc finger protein 267 16 16 16 p11.2 28380251 28423800 - 31792655 31836128 + 31885079 31928629 + 1580863;6480464 7865130;17081983;16054593;15814297;15592455;15489334;14702039;12477932;11121585;18029348;21840307;22076166;16344560;22505724 10308 H3BMG2;H3BNA3;H3BPW2;I3L4I6;Q14586 AA570774;ABBA01042104;AC034105;AF220492;AI636367;AK096390;AK292573;AL832123;AMYH01007511;AMYH01007512;BC036367;BC127088;BC127089;CH471192;DA657367;DB091947;DB484386;NM_001265588;NM_003414;NR_049749;X78925 AAF73867;AAH36367;AAI27089;AAI27090;ABZ92290;BAF85262;BAG53279;CAA55525;EAW52106;NP_001252517;NP_003405;Q14586 Hs.460645 1677893;1701600 RH104437;RH70917 HZF2 zinc finger (C2H2);zinc finger protein 2;zinc finger protein 267;zinc finger protein HZF2 protein-coding ENSG00000185947 13060 06883 604752 VALIDATED 1349173 ZNF279 zinc finger protein 279 10591208 23748 13072 1344423 ZNF271 zinc finger protein 271 Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Apr 2004] 18 18 18 q12 29678140 29698629 + 31124298 31142072 + 32870236 32890730 + 1580863;6480464 16344560;15489334;14702039;12477932;11777961;7865130 10778 Q14591 ABBA01022450;AC011815;AC116447;AF159567;AK023456;AK094216;AMYH01008936;BC004510;BC017710;BJ990003;BM992306;DA005750;DA179133;DA493437;NR_024565;NR_024566;X78930 AAD43569;ABZ92298;BAG51196;CAA55530 Hs.314246 1685181;1734596;1752241;1854057;1854059 A005X10;D18S945E;G20565;RH93256;SHGC-106165 HZF7;ZNFEB APPROVED pseudo ENSG00000257267 13065 06884 604754 VALIDATED 1347609 ZNF280 zinc finger protein 280 10591208 23747 13074 1347058 ZNF275 zinc finger protein 275 This gene encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010] X X X q28 152832580 152851303 + 152262060 152270249 + 152599613 152618384 + 1580863;6480464 18029348;14702039;12477932;10854409 10838 A6NE92;A6NFS0;J3KQX9;Q9NSD4 ABBA01023734;ABBA01023735;ABBA01023736;ABBA01023737;AC152007;AC152008;AK122976;AK127133;AK172795;AL833683;AMYH01023289;BC001545;BC018767;BC041602;BC136634;NG_021432;NM_001080485 AAI36635;BAG53829;NP_001073954;Q9NSD4 Hs.348963 1660074;1702830;2119140;2139747;2139749;2218890 A005L01;DXS15;G20296;STS-H26680;WI-17149;ZNF275__4803 OTTHUMP00000070458;zinc finger protein 275 APPROVED protein-coding 13069 VALIDATED 1351261 ZNF273 zinc finger protein 273 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] 7 7 7 q11.21 58082673 58111037 + 64001055 64029390 + 64363620 64391955 + 1580863;6480464 16344560;15489334;14702039;12477932;9847074;7865130;20211142;22505724 10793 E9PL30;Q14593;Q75LP1 ABBA01027987;ABBA01027988;AC092161;AK090648;AL832810;AMYH01017437;BC007078;BC008386;BC019234;BC041102;BC063818;BC108740;CH471204;DA324061;DA807335;NM_021148;NR_003099;X78932 AAH08386;AAH19234;AAH63818;AAQ93371;AAQ93372;BAG52207;CAA55532;EAW77992;EAW77993;EAW77994;NP_066971;Q14593 Hs.520889 1677784;1694730;1772306;2110083;2123094;2175663;2220430;2220626;5015619;5022578;5022649;5037552;5113020 D11S2875;D11S3114;D1S1423;D7S734;D8S2279;G43561;GDB:1318354;RH40697;RH80873;SHGC-52453;UniSTS:481985;UniSTS:486333;ZNF273_9180 HZF9;MGC12518 OTTHUMP00000194761;zinc finger protein 273;zinc finger protein 9;zinc finger protein HZF9 APPROVED protein-coding 13067 07264;14424 604756 REVIEWED 1347715 ZNF274 zinc finger protein 274 This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008] 19 19 19 qter 55738321 55768855 + 63386208 63416739 + 58694396 58724927 + 1580863;6480464;6907045 17474147;10777669;10520746;16954381;15498874;15489334;14702039;12477932;10545116;8125298;18029348;16344560;21170338;20562864;17512541 10782 M0QXW4;M0QY30;Q96GC6 AB029149;AB029150;ABBA01020779;ABBA01020780;ABBA01020781;AC008751;AC020915;AF275680;AF275681;AK022328;AK095162;AK222855;AK222878;AK295036;AK296929;AK297466;AK307906;AK316429;AMYH01010032;BC009763;BT007304;BX641169;CA942346;CH471135;DA050458;DC362701;DC366107;NM_001278734;NM_001278735;NM_016324;NM_016325;NM_133502;U71598 AAB16810;AAG24390;AAG24391;AAH09763;AAP35968;BAA88522;BAA88523;BAG58090;BAG59481;BAG59888;BAH14800;CAE46074;EAW72565;EAW72566;EAW72567;NP_001265663;NP_001265664;NP_057408;NP_057409;NP_598009;Q96GC6 Hs.83761 1678019;1766307;2218670;5015861;5024039;7185938 D10S16;D16S325;RH80850;SHGC-149655;ZNF274__4802 DKFZp686K08243;FLJ37843;HFB101;ZF2;ZKSCAN19;ZSCAN51 KRAB zinc finger protein HFB101;neurotrophin receptor-interacting factor homolog;zinc finger protein 274;zinc finger protein HFB101;zinc finger protein with KRAB and SCAN domains 19;zinc finger protein zfp2 APPROVED protein-coding ENSG00000171606 13068 05682 605467 REVIEWED 1353791 ZNF277 zinc finger protein 277 7 7 7 q31.1 106658932 106796266 + 111633879 111771225 + 111846643 111983989 + 1580863;6480464 17353931;16713569;16395595;16344560;16213364;12853948;12690205;12477932;11597177;10860669;20211142;22747683;22505724 11179 C9J3B6;C9JH62;E7EW13;F8WBE4;G5E9M4;H7C460;Q9NRM2 AACC02000002;ABBA01057850;AC004111;AC004112;AC087539;AF209198;AF308819;AK027128;AK314630;AL713791;AMYH01017861;BC020626;BG924796;CH236947;CH471070;CS300564;DA285525;DB543718;NM_021994 AAF85941;AAH20626;AAL55819;AAS07407;AAS07408;AAS07413;BAG37195;CAD28546;CAK32228;EAL24376;EAW83457;EAW83458;EAW83459;EAW83460;EAW83461;NP_068834;Q9NRM2 Hs.655904 1688907;1690378;1735576;2123619;2142202;2162651;2162653;5109281;5125733 A004D18;A005X13;D1S1425;D5S1689E;G20568;RH46316;RH91911;RH92053;STS-N27946 NRIF4;ZNF277P OTTHUMP00000196615;OTTHUMP00000207268;nuclear receptor-interacting factor 4;zinc finger protein 277;zinc finger protein 277 pseudogene protein-coding 13070 05680 605465 VALIDATED 1316682 ZNF276 zinc finger protein 276 16 16 16 q24.3 74851642 74871575 + 88314934 88333811 + 89787393 89807333 + 1580863;6480464 16713569;16344560;16189514;15489334;14702039;14605947;12477932;10936049 92822 A8K186;H3BPJ6;H3BPT7;H3BTK0;H3BTT0;I6L9I3;Q8N554 ABBA01014134;AC005360;AC010538;AI283548;AK026482;AK056405;AK096004;AK096762;AK289801;AK295770;AK315793;AMYH01007938;AW179154;BC032781;BC038839;BC105959;BC107603;BC110348;BC111408;BM921035;BQ432535;BQ549716;CH471184;DA227038;DA891371;NM_001113525;NM_152287 AAH32781;AAI05960;AAI07604;AAI10349;ABZ92087;ACE86611;ACE87292;BAF82490;BAG51699;BAG58595;EAW66687;EAW66688;EAW66689;EAW66690;EAW66691;EAW66692;EAW66693;NP_001106997;NP_689500;Q8N554 Hs.290154 1795812;1851516;2124497;2166139;5022578;5037552;5118802 A008X39;D11S3665;D1S1423;D8S2279;FANCA_1338;SHGC-60782;SHGC-61164 CENP-Z;CENPZ;FLJ38685;FLJ77809;MGC111410;MGC126480;MGC45417;ZFP276;ZNF477 OTTHUMP00000175353;centromere protein Z;zfp-276;zinc finger protein 276;zinc finger protein 276 homolog;zinc finger protein 276 homolog (mouse);zinc finger protein 477 protein-coding ENSG00000158805 23330 12235 608460 VALIDATED 1352869 ZNF28 zinc finger protein 28 19 19 19 q13.41 50350064 50374196 - 57992473 58016697 - 53300661 53324922 - 1580863;6480464 14702039;12477932;8262519;2288909;15146197;21906983;22505724 7576 C9K0H3;F8WBV3;M0QXU3;M0R0U4;P17035 ABBA01068234;ABBA01068235;ABBA01068236;ABBA01068237;ABBA01068238;ABBA01068239;AC008813;AK091553;AK092385;AK131368;AK131574;AK293074;AK304704;AMYH01009956;AMYH01009957;BC070146;BC140720;BX485233;BX489697;BX640767;CH471135;CN263784;CR933598;NM_006969;NR_036599;NR_036600;X52355 AAH70146;AAI40721;BAD18519;BAD18706;BAF85763;BAG65472;CAA36581;CAI45923;CAI46258;EAW72097;EAW72098;NP_008900;P17035 Hs.732407 1678549;1690290;2109009;2173688 RH39093;RH65111;STS-R41911;ZNF28__4805.2 DKFZp781D0275;KOX24 OTTHUMP00000206113;OTTHUMP00000206114;zinc finger protein 28;zinc finger protein 28 (kox 24);zinc finger protein KOX24 protein-coding ENSG00000198538 13073 18507 VALIDATED 1323434 ZNF280D zinc finger protein 280D 15 15 15 q21.3 33811748 33915181 - 54709666 54813079 - 56922374 57025787 - 737633;6480464 12477932 8889548;16381901;15489336;14702039;11230166;11076863;10997877;21888893;20798984;16341674;20562864;22990118;22797925 54816 H0YL38;H0YLA6;H0YN90;Q6N043;Q7Z6J5 AB046804;ABBA01039001;AC090517;AC090518;AK000093;AK025073;AK289739;AK295159;AK310882;AL136634;AMYH01006677;BC015382;BC040532;BC053649;BC064359;BC130451;BC136412;BM795112;BU689457;BX640637;BX640707;BX641000;CH471082;NM_001002843;NM_001002844;NM_017661 AAH15382;AAH53649;AAH64359;AAI30452;AAI36413;BAA90940;BAB13410;BAB15059;BAF82428;BAG58173;CAB66569;CAE45785;CAE45827;CAE46003;CAL37528;CAL38620;EAW77504;EAW77505;EAW77506;EAW77507;EAW77508;NP_001002843;NP_001002844;NP_060131;Q6N043 Hs.511477 1645992;1651907;1657207;1682417;1721625;1733668;1857751;2106665;2116722;2125927;2149775;2153930;2161337;2186062 A003N12;A008X30;D15S1225;D15S639E;D15S924;G59823;RH48191;RH68522;RH91225;SHGC-31420;SHGC-3236;SHGC-37375;SUHW4__5351;WI-21485 MGC21637;MGC61687;SUHW4;ZNF634 suppressor of hairy wing homolog 4;zinc finger protein 280D;zinc finger protein 634 protein-coding ENSG00000137871 25953 15448 VALIDATED 1345575 ZNF284 zinc finger protein 284 19 19 19 q13.31 41380433 41395759 + 49268137 49283463 + 44576297 44591623 + 16817023;12743021;22505724 342909 Q2VY69 ABBA01040874;AC084219;AK308295;AMYH01009842;AY166789;AY458845;CR936662;NM_001037813 AAI56664;AAO45838;AAS13443;NP_001032902;Q2VY69 Hs.445395;Hs.720813 1777203;5022578 D1S1423;STS-U46189 DKFZp781F1775;ZNF284L zinc finger protein 284 protein-coding 13078 PROVISIONAL 1349297 ZNF280C zinc finger protein 280C This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011] X X X q26.1 129723156 129789417 - 129164366 129230554 - 129336673 129402922 - 737633;1580863;6480464 12477932 15772651;15489334;14702039;16344560;11361095;17210253;18253864;19132878;21987572;19471022;21139048;21693764;21890473;22505724 55609 Q8ND82;Q9UJJ2 AA805654;ABBA01047904;ABBA01047905;ABBA01047906;ABBA01047907;ABBA01047908;ABBA01047909;AK000102;AK290373;AL023799;AL133204;AL139234;AL834333;AMYH01022971;AMYH01022972;BC051728;CH471107;DA441065;DR003059;NG_021388;NM_017666 AAH51728;BAA90947;BAF83062;CAB61579;CAD39001;EAX11805;EAX11806;EAX11807;NP_060136;Q8ND82 Hs.308418 1690212;5014051;5037552 D8S2278;D8S2279;DXS7836 FLJ20095;SUHW3;ZNF633 OTTHUMP00000024010;OTTHUMP00000024011;suppressor of hairy wing homolog 3;zinc finger protein 280C;zinc finger protein 633 APPROVED protein-coding ENSG00000056277 25955 06526 VALIDATED 2303455 ZNF285B zinc finger protein 285B, pseudogene 19 19 19 q13.31 41772408 41781574 + 49660288 49669335 + 44968405 44977566 + 18957941 147711 ABBA01040878;AC069278;AC138473;AMYH01009842;NG_009596 APPROVED pseudo 33262 INFERRED 1342488 ZNF280A zinc finger protein 280A This gene was predicted both by automated computational analysis and by similarity to a Drosophila gene and to predicted genes in other species (sheep, chimp, dog, cow). The predicted protein of this gene is similar to Drosophila suppressor of hairy wing protein, a leucine zipper protein which represses the function of transcriptional enhancers of the gypsy retrotransposon. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6675962 6682496 - 21198060 21204613 - 22868060 22874613 - 1580863;6480464 15489334;14702039;12477932;10591208;9074928 129025 B3KS93;P59817 ABBA01055085;AK093108;AMYH01012639;BC053901;BG473533;CH471095;D87009;D87011;NG_000002;NM_080740 AAH53901;ADR82757;BAA20006;BAA20008;BAG52655;EAW59517;NP_542778;P59817 Hs.178665 3'OY11.1;SUHW1;ZNF280;ZNF636 OTTHUMP00000028764;suppressor of hairy wing homolog 1;zinc finger protein 280;zinc finger protein 280A;zinc finger protein 636 APPROVED protein-coding ENSG00000169548 18597 18129 REVIEWED 1348223 ZNF280B zinc finger protein 280B This gene was identified by homology to other species. Its encoded protein is approximately 78-88% identical to a predicted sheep protein of unknown function. The protein is also approximately 25% identical to the Drosophila protein suppressor of hairy wing, which is a leucine zipper protein that represses the function of transcriptional enhancers of the gypsy retrotransposon. [provided by RefSeq, Jul 2008] 22 22 22 q11.22 6646667 6671408 - 21168767 21193505 - 22838767 22863505 - 1580863;6480464 9074928;15489334;15461802;14702039;12477932;10591208;22990118;19322201;22219177 140883 B3KUN2;Q86YH2 ABBA01055084;ABBA01055085;AK097608;AMYH01012639;BC035376;BC040020;BC042370;CH471095;CR456614;D87009;NG_000002;NM_080764 AAH40020;ACE86619;ACE87300;BAA20005;BAG53494;CAG30500;CAK54642;CAK54941;EAW59515;EAW59516;NP_542942;Q86YH2 Hs.43834 1679622;1778615;2106663;2129446;2181189 RH45724;RH93749;SHGC-57080;STS-N26665;SUHW2__5350 5'OY11.1;D87009.C22.3;SUHW2;ZNF279;ZNF632 OTTHUMP00000199058;suppressor of hairy wing homolog 2;zinc finger protein 279;zinc finger protein 280B;zinc finger protein 632 APPROVED protein-coding ENSG00000198477 23022 11615 REVIEWED 1354182 ZNF283 zinc finger protein 283 19 19 19 q13.31 41135012 41156588 + 49023313 49044890 + 44331473 44353050 + 1580863;6480464 14702039;12743021;12477932;7865130 284349 K7EJ77;K7EL69;K7EPC6;K7ES18;K7ESH0;Q4G0N1;Q8N7M2 ABBA01040870;AC011508;AK098175;AK294852;AMYH01009840;AY166784;AY500359;AY500364;BC045755;DC324604;DC384756;NM_181845 AAH45755;AAI67809;AAO45833;AAS55109;AAS55114;ADR83378;BAC05251;BAG57956;NP_862828;Q8N7M2 Hs.652513 2219766 ZNF283__4808 HZF41 HZF19;zinc finger protein 283;zinc finger protein 41;zinc finger protein HZF19 protein-coding ENSG00000167637 13077 VALIDATED 1342926 ZNF285 zinc finger protein 285 19 19 19 41693843 41709808 - 49581648 49597617 - 44889808 44905777 - 1580863;6480464 16344560;14702039;12743021;12477932;23049088 26974 K7EIK6;K7EQE9;K7ERT5;Q96NJ3 ABBA01040877;AC138473;AK055309;AL833447;AMYH01009842;AY166790;BC069384;BC074824;BC074875;BC117300;BC117302;BC143984;BF343511;BM987858;CH471126;DA949487;NM_152354 AAH69384;AAH74824;AAH74875;AAI17301;AAI17303;AAI43985;AAO45839;BAB70901;EAW57270;EAW57271;EAW57272;NP_689567;Q96NJ3 Hs.709428 5037552;5492675 D8S2279;UniSTS:481999 FLJ30747;ZNF285A zinc finger protein 285;zinc finger protein 285A APPROVED protein-coding ENSG00000267508 13079 15759 VALIDATED 2299177 ZNF286C zinc finger 286C pseudogene 17 p11.2 18509933 18526276 - 12477932;9852958 729288 P0CG31 AC026271 Hs.716573 pseudo 33946 1314806 ZNF282 zinc finger protein 282 7 7 7 q36.1 143561753 143592540 + 148523510 148554272 + 148892577 148923339 + 1580863;6480464 9396811;15790807;15489334;12853948;12690205;12477932;8889548;9847074;20379614;21900206;21693764;21890473;21906983 8427 B4DRI5;Q9UDV7 AACC02000041;ABBA01033625;ABBA01033626;AC004890;AK299280;AK316282;AMYH01018118;AMYH01018119;AY927504;AY927505;BC009542;BC031686;BC041704;BC055287;BC073805;BU731447;CH471146;CV573257;D30612;NM_003575 AAH31686;AAH41704;AAH55287;AAH73805;BAA24380;BAG61297;BAH14653;EAL24430;EAW80055;EAW80056;NP_003566;Q9UDV7 Hs.729056 1649678;1788614;2142617 RH127077;RH65667;SHGC-57902 HUB1 HTLV-I U5 repressive element-binding protein 1;HTLV-I U5RE-binding protein 1;HUB-1;OTTHUMP00000213781;OTTHUMP00000213782;zinc finger protein 282 protein-coding ENSG00000170265 13076 04549 603397 VALIDATED 1354213 ZNF299 zinc finger protein 299 pter-qter 8034323 89767 X73895 zinc finger protein 299 protein-coding 13087 1350825 ZNF286A zinc finger protein 286A 17 17 p11.2 15544054 15561963 + 15602891 15624101 + 1580863;6480464 15342556;14702039;12477932;12168954;11347906;9027492;8889548 57335 A8MTT8;B2RCD9;B4DKF9;J3KRD3;J3KRF9;J3KRV6;J3KSJ1;J3KSW0;J3QQV4;K7ENW2;K7EQ88;Q9HBT8 ABBA01000299;ABBA01002171;AC005324;AF086305;AF217226;AK021478;AK055651;AK092259;AK315062;AMYH01008142;BC015730;BC025260;BC128259;BC128411;BP193773;BU687070;NM_001130842;NM_020652 AAG09701;AAI28260;AAI28412;BAG37536;BAG52512;NP_001124314;NP_065703;Q9HBT8 Hs.585799;Hs.659318 1676884;1734442;1849028;5109281 A004N16;D17S1412E;D1S1425;RH18308 KIAA1874;MGC149627;MGC156181;ZNF286 OTTHUMP00000065084;OTTHUMP00000065208;zinc finger protein 286;zinc finger protein 286A;zinc finger protein ZNF286 protein-coding ENSG00000187607 13501 15760 VALIDATED 1352271 ZNF299P zinc finger protein 299, pseudogene 21 21 21 q21.1 9643671 9645338 - 23383898 23385565 - 24462793 24464066 - 10830953;8034323 54012 ABBA01057186;AMYH01012169;AP001116;AP001686;NG_000898;X73895 ZNF299;ZNF299P1 APPROVED pseudo 13088 INFERRED 1350738 ZNF29P zinc finger protein 29, pseudogene 17 p12 15578790 15578957 + 1580863 2288909;2004757 7577 ABBA01035680;AC005324;AC018989;AMYH01008142;NG_007542;X52357 CAA36583 Hs.684886 KOX26;ZNF29 zinc finger protein 29 (kox 26) APPROVED pseudo 13080 194535 INFERRED 1312996 ZNF281 zinc finger protein 281 1 1 1 q32.1 173498045 173501791 - 198642043 198645789 - 200375420 200379166 - 1580863;6480464 10405178;10448078;15489334;14702039;12477932;17314511;12771217;17761849;20306291;20811636;22939629;18757296;18781797;21987572;19471022;21139048;21693764;21906983;19322201;16009940;18029348;23287719;21988832;22678362;16344560;21963094;15342556;19147588 23528 A6NF48;Q9Y2X9 ABBA01027552;AC104461;AF086540;AF125158;AJ132591;AJ132592;AK021707;AK022916;AK022921;AK027284;AK094701;AK297233;AMYH01001635;BC051905;BC060820;BG611294;BP216938;BQ012001;BQ013454;CH471067;CQ834814;DB150929;NM_001281293;NM_001281294;NM_012482 AAD21084;AAH51905;AAH60820;BAG51134;BAG51136;BAG51299;BAG59716;CAB70967;CAB70968;CAH05622;EAW91313;NP_001268222;NP_001268223;NP_036614;Q9Y2X9 Hs.59757;Hs.703449;Hs.735801 1770111;1854105;2162052;2218892 A007J21;RH47383;RH71424;ZNF281__4806 FLJ12859;FLJ14378;ZBP-99;ZNP-99 GC-box-binding zinc finger protein 1;OTTHUMP00000033837;OTTHUMP00000033838;ZNP-99 transcription factor;transcription factor ZBP-99;zinc finger DNA-binding protein 99;zinc finger protein 281 protein-coding ENSG00000162702 13075 11702 VALIDATED 1318494 ZNF287 zinc finger protein 287 This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] 17 17 17 p11.2 16356542 16375435 - 16395426 16413189 - 16453631 16472520 - 1580863;6480464 15489334;12477932;11137451;11021307;8889548;16169070;22505724 57336 C9JAV4;Q6PEZ3;Q9HBT7 ABBA01035647;ABBA01035648;AC127540;AF027140;AF217227;AL359578;AMYH01008150;BC032002;BC041159;BC057791;BC101487;BC113363;BM685282;BM979793;CH471222;CR457194;DB514422;NM_020653 AAB84019;AAG09702;AAH57791;AAI01488;AAI13364;ABZ92027;CAG33475;EAX04518;NP_065704;Q9HBT7 Hs.99724 2218674;5015861;7185938 D10S16;ZNF287__4811 MGC126536;MGC141923;ZKSCAN13;ZSCAN45 OTTHUMP00000064976;OTTHUMP00000064977;zinc finger protein 287;zinc finger protein with KRAB and SCAN domains 13 APPROVED protein-coding 13502 11703 VALIDATED 1354082 ZNF292 zinc finger protein 292 6 6 6 q14.3 88284009 88392094 + 87921988 88030125 + 87865269 87973406 + 1580863;6480464 16344560;16303260;16112646;14702039;12477932;10687855;9628581;21116278;21139048;22944692 23036 E5RFE6;E5RJG2;H0YAU0;H0YB79;J3KNV1;O60281;Q3LIB3;Q6P495;Q6ZS01;Q6ZW83 AB011102;AB075508;ABBA01040491;ABBA01040492;AK023626;AK023712;AK123473;AK127835;AL139274;AL832366;AMYH01016492;AMYH01016493;AY684300;BC016386;BC040712;BC043168;BC063594;BX537746;CH471051;DA329523;NM_015021 AAH63594;AAI72360;AAV86070;BAA25456;BAB14622;BAB14654;BAC85621;BAC87155;BAE45755;CAD97823;EAW48607;NP_055836;O60281 Hs.485892;Hs.656621 1652924;1668432;1673167;1685492;1689009;1696024;1754429;1760155;1786104;1850781;1854119;2113830;2128203;2149627;2161954;2164261;2178632;2186402;2187092;5022651 1622;D11S2921;D6S1327;D6S1857;D6S1893;KIAA0530;RH36585;RH47315;RH66598;RH92843;SHGC-132180;SHGC-132481;SHGC-172006;SHGC-32881;SHGC-52432;SHGC-64105;SHGC-83164;STS-N33849;WI-18053;WI-21240 FLJ13564;FLJ41479;KIAA0530;Nbla00365;ZFP292;ZN-16;Zn-15;bA393I2.3 16 zinc-finger domain protein;OTTHUMP00000016826;OTTHUMP00000225270;putative protein product of Nbla00365;zinc finger protein 292 protein-coding ENSG00000188994 18410 VALIDATED 1353778 ZNF301 zinc finger protein 301 21pter-qter 8034323 89769 X73897 ZF21-3 protein-coding 13092 1343580 ZNF296 zinc finger protein 296 19 19 19 q13.32 42379045 42383975 - 50266598 50271528 - 45574758 45579688 - 1580863;6480464 19255975;15489334;14633674;12477932;11063263 162979 Q8IX33;Q8WUU4 ABBA01040909;ABBA01040910;AC011489;AF447583;AMYH01009847;AMYH01009848;AY040679;BC019352;CH471126;NM_145288 AAH19352;AAK84667;AAN76720;EAW57320;NP_660331;Q8WUU4 Hs.192237 ZFP296;ZNF342 zinc finger protein 296;zinc finger protein 342 protein-coding ENSG00000170684 15981 15782 613226 PROVISIONAL 2305380 ZNF295-AS1 ZNF295 antisense RNA 1 21 21 21 q22.3 28589648 28592595 + 42317489 42318129 + 43442113 43445060 + 6480464 15489334;14702039;12477932 150142 Q8N0V1 ABBA01014179;AK055167;AMYH01012267;AP001620;BC029588;CH471079;NR_027273 EAX09578;Q8N0V1 Hs.143833 C21orf121;NCRNA00318;PRED87 APPROVED miscrna 23130 10735 VALIDATED 1345379 ZNF30 zinc finger protein 30 19 19 19 q13.11 32131189 32149419 + 40109647 40127916 + 35417807 35436076 + 1580863;6480464 16344560;12477932;2288909 90075 P17039 ABBA01018727;AC008555;AK000569;AK290435;AK295515;AMYH01009721;AMYH01009722;BC142996;BX640666;DA504398;DA554380;DC314501;DC352784;NM_001099437;NM_001099438;NM_194325;NR_024018;X52359 AAI42997;BAF83124;BAG58432;CAA36585;CAE45802;NP_001092907;NP_001092908;NP_919306;P17039 Hs.657402 1669911;1680861;1706984;1721545;2121796;2166650 A006P11;G59777;RH48738;RH91716;SHGC-80991;STS-H09790 DKFZp686N19164;FLJ20562;KOX28 zinc finger protein 30;zinc finger protein 30 (KOX 28);zinc finger protein KOX28 protein-coding ENSG00000168661 13090 15763 VALIDATED 1345152 ZNF309 zinc finger protein 309 404540 13856 1344550 ZNF315P zinc finger protein 315 pseudogene 387030 13845 1323214 ZNF316 zinc finger protein 316 7 p22.1 6676982 6687118 + 6480464 12853948;15146197;18669648;22939629 100131017;389461 A6NFI3 AC073343;AL832182;BX393621;BX420633;CH236963;CN263497;NM_001278559;XM_003959916;XM_003959998;XM_003960375;XM_003960928;XM_371873;XR_171040 A6NFI3;NP_001265488;XP_003959965;XP_003960047;XP_003960424;XP_003960977 Hs.720748;Hs.720750 1686392;1686979;2126109 RH47767;RH94078;RH94157 ENST00000305834;MZF-3;ZNF853 protein-coding 13843 VALIDATED 1349700 ZNF300 zinc finger protein 300 The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] 5 5 5 q33.1 146355280 146365871 - 150254157 150264584 - 150273954 150284545 - 1580863;6480464 18350257;17541838;15489334;14746915;14702039;12477932;21777376;20549515;20471086;20585888;16341674;16344560;17554300;23128233;22505724 91975 F8WE31;J3KQF6;Q96RE9 ABBA01026269;AC010441;AF395541;AK026949;AK095642;AK096465;AK300528;AMYH01015710;BC032607;BC117248;BM824443;CH471062;CR933727;DA497503;DB094933;DC376791;DQ908918;NG_016866;NM_001172831;NM_001172832;NM_052860 AAI17249;AAK83888;ABI81769;ADR83084;BAG53297;BAG62240;CAI46270;EAW61698;EAW61699;EAW61700;EAW61701;EAW61702;NP_001166302;NP_001166303;NP_443092;Q96RE9 Hs.134885 2128424 SHGC-53373 DKFZp686B24204 OTTHUMP00000160554;OTTHUMP00000206798;kruppel-like zinc finger protein;zinc finger protein 300 APPROVED protein-coding ENSG00000145908 13091 15764 612429 REVIEWED 5553006 ZNF317P1 zinc finger protein 317 pseudogene 1 8 q22.1 94658294 94659322 + 100288659 ABBA01037437;AC120053;AMYH01018883;NG_022426 pseudo 31062 INFERRED 4109468 ZNF300P1 zinc finger protein 300 pseudogene 1 5 5 5 q33.1 146391325 146407473 - 150290191 150306286 - 150309998 150326146 - 12477932;14702039;23128233 134466 Q17R26 ABBA01026269;AC022106;AK091436;AK096536;AK097462;AMYH01015710;BC022559;BC117490;BC126474;NR_026867 Q17R26 Hs.661876 pseudo 27032 VALIDATED 1348770 ZNF3 zinc finger protein 3 7 7 7 q22.1 94396223 94414030 - 99499589 99517307 - 99661653 99679371 - 1580863;6480464 14702039;12690205;12477932;3380682;1945843;18255255;2288909;18029348;16344560;15489334;16751776;21555518;22505724 7551 C9J5S8;C9JE35;C9JIW8;C9JK31;F8WA60;P17036 AACC02000084;ABBA01013238;ABBA01013239;AC073842;AC093619;AF027136;AF027139;AF193057;AF217988;AK000223;AK091984;AK297625;AK309719;AK315479;AMYH01017726;BC008031;BC011887;BC013603;BC025265;BQ071498;BT006918;BX647182;CA439866;CH236956;CH471091;CS185617;DA443888;DA623743;DC384519;HY096067;NM_001278284;NM_001278287;NM_001278290;NM_001278291;NM_001278292;NM_017715;NM_032924;X07290;X52356;X60153 AAB84015;AAB84018;AAG17231;AAG22485;AAH11887;AAH13603;AAP35564;ACE86962;ACE87652;BAA91019;BAG37863;BAG52456;BAH12633;CAA30269;CAA36582;CAB94195;CAH10562;CAJ42798;EAL23858;EAL23859;EAW76603;EAW76604;EAW76605;EAW76606;EAW76607;EAW76608;NP_001265213;NP_001265216;NP_001265219;NP_001265220;NP_001265221;NP_060185;NP_116313;P17036 Hs.435302 1656374;1687520;1725797;1741469;2116511;2127521;2135109;2141289;2146934;2167194;2174265;2218678;5037552 D8S2279;G62076;GDB:181232;GDB:4584975;GDB:4585163;GDB:6028554;RH16590;RH80109;SGC30599;SHGC-8018;STS-W89121;WI-13317;ZNF3__4813 A8-51;FLJ20216;HF.12;KOX25;PP838;Zfp113 C2-H2 type zinc finger protein;HZF3.1;OTTHUMP00000206232;OTTHUMP00000206970;OTTHUMP00000206972;OTTHUMP00000206973;OTTHUMP00000206974;OTTHUMP00000207034;OTTHUMP00000214592;zinc finger protein 3;zinc finger protein 3 (a8-51);zinc finger protein HF.12;zinc finger protein HZF3.1;zinc finger protein KOX25 protein-coding ENSG00000166526 13089 01911 194510 VALIDATED 1352206 ZNF304 zinc finger protein 304 19 19 19 q13.4 54906354 54914975 + 62554487 62563078 + 57862645 57871266 + 1580863;6480464 12051768;16344560;12477932 57343 E7EQD3;M0QZ59;Q2T9G7;Q9HCX3 ABBA01020812;AC005261;AJ276316;AMYH01010027;BC111531;BC111532;CH471135;DA788435;NM_020657 AAI11532;AAI11533;ABZ92361;CAC06610;EAW72493;EAW72494;NP_065708;Q9HCX3 Hs.287374 MGC129703;MGC129704 zinc finger protein 304 protein-coding ENSG00000131845 13505 15766 613840 VALIDATED 1351199 ZNF32-AS1 ZNF32 antisense RNA 1 10 q11.21 44139320 44140495 + 414197 ABBA01050012;AI633368;AL645634;AMYH01002293;NR_047557 Hs.605832 2169731 D10S2374 ZNF32OS1;bA402L1.8 ZNF32 antisense RNA 1 (non-protein coding);zinc finger protein 32 opposite strand 1 APPROVED miscrna ENSG00000226245 23577 VALIDATED 1346935 ZNF32-AS2 ZNF32 antisense RNA 2 10 q11.21 44141390 44143467 + 414208 ABBA01050012;AL645634;AMYH01002293;AW188264;BI459211;NR_047558 Hs.608956 ZNF32OS2;b402L1.7 ZNF32 antisense RNA 2 (non-protein coding);zinc finger protein 32 opposite strand 2 APPROVED miscrna ENSG00000230565 23593 VALIDATED 1604963 ZNF311 zinc finger protein 311 6 6 6 p22.1 30568704 30579147 - 29070573 29081016 - 28962594 28973037 - 6480464 17474147;18309376;14574404;10520746;12477932;19851445;22505724 282890 A8K1G6;Q5JNZ3 ABBA01038029;AK289881;AL662791;AL662865;AL833166;AL929561;AMYH01016195;BC136745;BC144385;BC144386;BX293545;BX927167;CH471081;CR759835;CR759957;NM_001010877;U71600;Z84476 AAB16812;AAI36746;BAF82570;CAB55432;EAX03178;NP_001010877;Q5JNZ3 Hs.148218 1710478;2220042 SHGC-86256;ZNF311__4816 zf31 OTTHUMP00000029428;zinc finger protein 311;zinc finger protein zfp-31;zinc finger protein zfp31 protein-coding ENSG00000197935 13847 18325 PROVISIONAL 1351185 ZNF302 zinc finger protein 302 19 19 19 q13.11 31880960 31889698 + 39860407 39869142 + 35168567 35177302 + 1580863;6480464 19019082;15489334;12477932;7865130;21145461;17207965;20562864;21549307 55900 B4DMN2;D6R9Q0;D6RA23;D6RAM0;E7EVR1;Q9NR11 AB209226;ABBA01018726;AC020910;AF155656;AF190157;AF265236;AF326206;AI929099;AK074901;AK122855;AK131278;AK315241;AL162002;AL515741;AL833690;AL834318;AMYH01009718;AY251166;AY500357;BC024176;NM_001012320;NM_018443 AAF67475;AAF74775;AAH24176;AAK11224;AAP20063;AAQ13701;AAS55107;ADQ31718;BAC11279;BAD92463;BAG53763;BAG54758;CAD38987;NP_001012320;NP_060913;Q9NR11 Hs.436350 1768085;2142704;5016334 A004U20;D19S963;RH15847 HSD16;MST154;MSTP154;ZNF135L;ZNF140L;ZNF327 OTTHUMP00000223607;OTTHUMP00000223608;OTTHUMP00000223610;OTTHUMP00000223611;OTTHUMP00000223613;OTTHUMP00000223614;ZNF135-like;ZNF140-like;zinc finger ZNF140-like;zinc finger protein 135-like;zinc finger protein 140-like;zinc finger protein 302;zinc finger protein 327 protein-coding ENSG00000089335 13848 15765 VALIDATED 1345905 ZNF317 zinc finger protein 317 19 19 19 p13 9146499 9169534 + 9112073 9135084 + 9251056 9274091 + 1580863;6480464 14702039;12477932;11688974;10997877;16344560;17000644;21890473 57693 K7EKT9;K7ERD6;Q96PQ6 AB046808;ABBA01029984;AC011464;AF148135;AF275255;AF307096;AF307097;AK056205;AK056570;AK304151;AK304871;AK314560;AL834126;AMYH01009459;BC001685;BC009367;BC078154;CH471106;DA757943;NM_001190791;NM_020933;NR_102435 AAH78154;AAL29182;AAL29188;AAL29190;AAL29191;ABZ92367;BAB13414;BAG37145;BAG51752;BAG65041;BAG65608;EAW84010;EAW84011;EAW84012;EAW84013;EAW84014;EAW84015;NP_001177720;NP_065984;Q96PQ6 Hs.465829 1675039;2155230;5022578;5109362 D17S1239;D1S1423;RH35935;SGC33886 KIAA1588 KRAB-containing zinc finger protein 317;zinc finger protein 317 protein-coding ENSG00000130803 13507 11706 613864 VALIDATED 1349832 ZNF32-AS3 ZNF32 antisense RNA 3 10 q11.21 44124265 44170147 + 12477932 414201 ABBA01050012;AL645634;AMYH01002293;BC033403;NR_038867 Hs.666576 C10orf44;ZNF32-OT1;bA402L1.3 APPROVED miscrna ENSG00000223910 23583 VALIDATED 1350572 ZNF32 zinc finger protein 32 10 10 10 q22-q25 40142942 40147961 - 43459313 43464332 - 44139307 44144326 - 1580863;6480464 15489334;15164054;12477932;9475118;8500793;2288909;1946370;17474147 7580 P17041 ABBA01050012;AI871265;AK312132;AL645634;AMYH01002293;BC022842;BG477527;BM127643;CB067143;CD367311;CH471160;NM_001005368;NM_006973;U69645;X52361 AAB09561;AAH22842;ABZ92250;BAG35068;CAA36587;EAW86609;EAW86610;EAW86611;NP_001005368;NP_008904;P17041 Hs.522885 1856193;2109011;2169731 D10S2374;RH11338;ZNF32_8734 KOX30 C2H2-546;OTTHUMP00000019488;zinc finger protein 32;zinc finger protein KOX30 protein-coding ENSG00000169740 13095 01924 194539 VALIDATED 1605850 ZNF320 zinc finger protein 320 ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002] 19 19 19 q13.41 50428706 50444171 - 58071237 58086411 - 53379425 53394599 - 6480464 14702039;12477932;11536051;22005930;22505724 162967 A2RRD8;M0QX96;M0QZA2;M0R0Z8;M0R1K6;M0R2L4;M0R2Z6;Q6ZP55 ABBA01068233;AC010487;AF086262;AK054877;AK094328;AK095630;AK096348;AK129992;AL831902;AMYH01009957;BC064408;BC105738;BC131555;CH471135;CR933622;NM_207333 A2RRD8;AAI31556;BAC85270;CAD38570;CAI45933;EAW72101;EAW72102;NP_997216 Hs.369632 DKFZp686G16228;ZFPL zinc finger gene 320;zinc finger protein 320;zinc finger protein like APPROVED protein-coding ENSG00000182986 13842 18506 606427 VALIDATED 1314677 ZNF319 zinc finger protein 319 16 16 16 q21 42525897 42531086 - 56586074 56591263 - 58028573 58033762 - 1580863;6480464 15489334;12477932;11161788;10718198;21890473;22505724 57567 H3BT69;Q9P2F9 AB037809;ABBA01025288;AC010543;AMYH01007705;BC093919;BC101767;CH471092;NM_020807 AAH93919;AAI01768;ABZ92364;BAA92626;EAW82961;NP_065858;Q9P2F9 Hs.129268 1688106;2218894 RH80916;ZNF319__4818 MGC126816;ZFP319 zinc finger protein 319 protein-coding ENSG00000166188 13644 18326 PROVISIONAL 1346383 ZNF325 zinc finger protein 325 51711 Q9ULZ6 AB021643;NM_016265 14095 1605491 ZNF321P zinc finger protein 321, pseudogene 19 19 19 q13.41 50477950 50493409 - 58122200 58137659 - 53430388 53445847 - 14702039;12477932;15489334;17974005 399669 ABBA01068230;ABBA01068231;AC010487;AK096828;AMYH01009957;BC046449;BC119627;BC119628;CH471135;NR_037805 AAH46449;AAI19628;AAI19629;BAC04871;EAW72104;EAW72105;Q8N8H1 Hs.675715 5117897 GDB:631813 DKFZp781C2298;FLJ39509;MGC35402;ZNF321 KRAB domain-containing protein ZNF321;zinc finger protein 321;zinc finger protein 321, pseudogene APPROVED pseudo 13827 14606 VALIDATED 1344348 ZNF328 zinc finger protein 328 64331 14208 1318587 ZNF318 zinc finger protein 318 6 6 6 pter-p12.1 44855540 44888913 - 43411786 43445159 - 43303808 43337181 - 6480464 17081983;16446156;15882980;15489334;15302935;14702039;14574404;12477932;10873617;9853615;18029348;22939629;16469430;23080069;19471022;21139048;21693764;21890473;22586326 24149 Q5VUA4 AB015342;ABBA01050686;AF090114;AF121141;AK001200;AK025505;AK027061;AL583834;AL590383;AMYH01016312;BC030687;BC098434;CH471081;NM_014345 AAD17298;AAD47387;AAH98434;BAA34799;EAX04179;NP_055160;Q5VUA4 Hs.509718 1686266;1753735 RH93849;SHGC-89247 FLJ21852;HRIHFB2436;TZF;ZFP318 OTTHUMP00000016436;endocrine regulator;endocrine regulatory protein;testicular zinc finger;zinc finger protein 318 protein-coding ENSG00000171467 13578 11707 VALIDATED 1350144 ZNF322P1 zinc finger protein 322 pseudogene 1 9 9 9 q22.33 70473828 70476201 - 98999358 99001731 - 99957633 99962427 - 6480464 15164053;12477932 387328 ABBA01042937;AL590705;AMYH01021552;NG_032063 1679874;1709398;2110809;5492665 RH65315;SHGC-81723;UniSTS:481948;ZNF322B__4819 FLJ23393;ZNF322;ZNF322B OTTHUMP00000021740;putative zinc finger protein 322B;zinc finger protein 322 pseudogene 1;zinc finger protein 322B APPROVED pseudo 14003 15771 INFERRED 1347331 ZNF322 zinc finger protein 322 ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008] 6 6 6 p22.1 27863913 27889235 - 26742590 26767942 - 26634611 26659980 - 6480464 15555580;15489334;14702039;12477932;20379614;16344560;21832049 79692 C9JP13;Q6U7Q0 ABBA01066560;AK027046;AK290038;AL513548;AMYH01016163;AMYH01016164;AY376736;BC050425;BC074772;BC119669;BC139750;BX474628;CH471087;CS185637;DA437716;DA481584;DB454351;NM_001242797;NM_001242798;NM_001242799;NM_024639 AAH50425;AAH74772;AAI19670;AAQ85127;ABZ92058;BAB15637;BAF82727;CAJ42818;EAW55594;EAW55595;EAW55596;NP_001229726;NP_001229727;NP_001229728;NP_078915;Q6U7Q0 Hs.126280;Hs.530271 1670592;1674573;1679874;1682057;1685496;1709398;1711356;2110809;5492665 D6S2290;D6S2349;RH45881;RH65315;RH69285;SHGC-81723;SHGC-89333;UniSTS:481948;ZNF322B__4819 FLJ23393;HCG12;ZNF322A;ZNF388;ZNF489;bA457M11.2;bA457M11.3 HLA complex group 12;OTTHUMP00000215822;OTTHUMP00000215823;OTTHUMP00000215824;zinc finger protein 322;zinc finger protein 322A;zinc finger protein 388;zinc finger protein 489 APPROVED protein-coding 23640 15770 610847 VALIDATED 1315356 ZNF324 zinc finger protein 324 19 19 19 q13.43 56022413 56028953 + 63670275 63676577 + 58978412 58984945 + 1580863;6480464 17081983;14702039;12477932;11779640;20562864;20360068;21549307 25799 F5H1K2;M0R1C8;O75467 ABBA01020766;AC012313;AF060503;AF075117;AK023989;AK092341;AMYH01010038;BC007717;CH471135;NM_014347 AAC33716;AAH07717;BAB14758;BAG52533;EAW72594;EAW72595;EAW72596;NP_055162;O75467 Hs.515660 1681092 RH79767 ZF5128;ZNF324A zinc finger protein 324A;zinc finger protein ZF5128 protein-coding ENSG00000083812 14096 11708 VALIDATED 1603828 ZNF324B zinc finger protein 324B 19 19 19 q13.43 56006972 56013201 + 63654783 63661011 + 58962971 58969199 + 6480464 14702039;12477932;8889548;20562864;22505724 388569 C9JTQ8;M0R090;M0R0B1;M0R1X9;M0R3B5;Q6AW86 ABBA01020766;AC012313;AK127750;AK131452;AMYH01010038;BC140881;BC140882;BM714371;BX648711;CH471135;NM_207395 AAI40882;AAI40883;BAC87113;BAD18597;CAH10556;EAW72593;NP_997278;Q6AW86 Hs.186970 FLJ45850 zinc finger protein 324B protein-coding ENSG00000249471 33107 13515 VALIDATED 1348045 ZNF329 zinc finger protein 329 19 19 19 q13.43 55681629 55706077 - 63329507 63353960 - 58637695 58662148 - 6480464 14702039;12477932;15231748 79673 M0R136;Q86UD4 ABBA01020782;ABBA01020783;AC008751;AF085857;AK022648;AK090893;AK095349;AK096542;AMYH01010031;AMYH01010032;BC047501;CH471135;NM_024620 AAH47501;ABZ92057;BAB14154;BAG52244;BAG53319;EAW72560;EAW72561;EAW72562;EAW72563;NP_078896;Q86UD4 Hs.458377 1653186;2115780;5022578 D1S1423;SHGC-34373;STS-H21958 FLJ12586 zinc finger protein 329 protein-coding ENSG00000181894 14209 07779 VALIDATED 1601703 ZNF326 zinc finger protein 326 1 1 1 p22.2 88706370 88739792 + 90233266 90266682 + 90460678 90494094 + 6480464 16710414;16344560;15635413;15489334;12477932;21145461;22666313;22939629;23383273;21252943;20360068;22178446;21139048;21890473;22446626;21628590;22797925 284695 E2QRN4;Q6NSA2 AA857943;ABBA01045584;AK000410;AK297073;AK303707;AL161797;AL391497;AMYH01000780;BC013102;BC014899;BC038454;BC052645;BC053888;BC061521;BC070341;BC090866;BU521884;CH471097;DB111509;NM_182975;NM_182976 AAH52645;AAH53888;AAH70341;AAH90866;BAG59592;BAG64691;EAW73125;EAW73126;EAW73127;EAW73128;NP_892020;NP_892021;Q5BKZ1 Hs.306221 1687007;2119250 RH48327;RH69517 FLJ20403;MGC61591;ZAN75;ZIRD;Zfp326;dJ871E2.1 DBIRD complex subunit ZNF326;OTTHUMP00000012401;OTTHUMP00000012403;OTTHUMP00000012404;ZNF-protein interacting with nuclear mRNPs and DBC1;dJ871E2.1 (novel protein (ortholog of mouse zinc finger protein Zan75));zinc finger protein 326;zinc finger protein interacting with mRNPs;zinc finger protein interacting with mRNPs and DBC1 protein-coding ENSG00000162664 14104 15774 614601 VALIDATED 1352601 ZNF333 zinc finger protein 333 19 19 19 p13 14694891 14725784 + 14661870 14692772 + 14800870 14831772 + 1580863;6480464 11347906;15607024;14702039;12477932;12151103 84449 B3KSN8;F5H0A3;M0R0S8;M0R113;M0R1P1;Q6P2E6;Q96JL9 AB058709;ABBA01051078;AC090427;AF372702;AK094028;AK095142;AK122817;AK291471;AK307147;AK309208;AL832544;AMYH01009539;BC012344;BC048107;BC064571;BX647475;CH471106;NM_032433 AAH48107;AAH64571;AAI66674;AAM15528;BAB47435;BAF84160;BAG52800;BAG52992;CAI56712;EAW84442;EAW84443;NP_115809;Q96JL9 Hs.515215 1756967;5022578;5037552 D1S1423;D8S2279;SHGC-144138 KIAA1806 zinc finger protein 333 protein-coding 15624 15776 611811 VALIDATED 3081780 ZNF33AP1 zinc finger protein 33A pseudogene 1 10 10 10 p11 37954297 37956640 + 38223426 38225969 + 38183521 38185864 + 79231 ABBA01033292;AL117337;AMYH01002259;NG_002659 BA393J16.4;ZNF33CP APPROVED pseudo 30957 INFERRED 1316746 ZNF330 zinc finger protein 330 4 4 4 q31.21 139472797 139486599 + 142361547 142375301 + 142142049 142155851 + 1580863;6480464 10593942;15231747;16344560;15592455;15489334;14702039;12477932;11528117;8125298;19895853;20585324;18781797;21139048;21890473;21906983;22053931 27309 D6R8Y9;D6R9C8;D6R9Q8;D6RBR7;D6RBS7;D6RCK7;E9PDK6;Q9Y3S2 ABBA01069986;AC107220;AJ006591;AJ404873;AK002106;AK223609;AK294089;AK315463;AMYH01014574;BC004421;CH471056;DA089047;NM_014487 AAH04421;ACE87058;ACE87739;BAD97329;BAG37850;BAG57430;CAB43112;CAC18679;EAX05089;NP_055302;Q9Y3S2 Hs.120766 2110813;2121506 STS-N21079;ZNF330_9546 HSA6591;NOA36 OTTHUMP00000164609;OTTHUMP00000220135;OTTHUMP00000220137;nucleolar autoantigen 36;nucleolar cysteine-rich protein;zinc finger autoantigen 330;zinc finger protein 330 protein-coding ENSG00000109445 15462 15775 609550 VALIDATED 1344097 ZNF331 zinc finger protein 331 This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. A pseudogene of this gene is located on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] 19 19 19 q13.42 51065602 51124916 + 58715989 58775335 + 54024177 54083523 + 6480464 10502321;16344560;15489334;15147412;14702039;14610350;12477932;11267678;20379614;18255255;20360068;21900206;22370639;22505724 55422 D6RH27;E7ENR0;E7EPG5;E7EPT0;E7ERM8;E7ETJ5;E7EV14;E7EWU7;Q68D63;Q71QC5;Q71QC6;Q71QC9;Q9NQX6 ABBA01068210;ABBA01068211;ABBA01068212;ABBA01068213;ABBA01068214;AC011487;AF086105;AF251515;AF272148;AF412398;AF412399;AF412400;AF412401;AF412402;AF412403;AF412404;AK075226;AK128736;AK312889;AMYH01009960;AMYH01009961;BC009365;BC009433;BF057584;BQ003434;CH471135;CR749560;DA060280;DA123838;DA237659;NM_001079906;NM_001079907;NM_001253798;NM_001253799;NM_001253800;NM_001253801;NM_018555 AAF70179;AAF78075;AAH09365;AAH09433;AAQ03245;AAQ03246;AAQ03247;AAQ03248;AAQ03249;AAQ03250;AAQ03251;ABZ92345;BAC11485;CAH18357;EAW72144;EAW72145;EAW72146;EAW72147;EAW72148;NP_001073375;NP_001073376;NP_001240727;NP_001240728;NP_001240729;NP_001240730;NP_061025;Q9NQX6 Hs.185674 1661012;1676922;1697164;1770281;2129727;2135345;2149149;2182840;2182842;2186003;2187835;2187859;2187861;2187865;2187867;5123935 A004A18;A006I30;G20851;G64894;G64895;G64898;G64899;G64900;RH102070;RH11970;RH45145;RH45559;RH64852;RH80163;WI-14156;WI-18576 DKFZp686L0787;RITA;ZNF361;ZNF463 C2H2-like zinc finger protein rearranged in thyroid adenomas;KRAB zinc finger protein;OTTHUMP00000223038;OTTHUMP00000223039;OTTHUMP00000223040;OTTHUMP00000223041;OTTHUMP00000223042;OTTHUMP00000223043;OTTHUMP00000223044;OTTHUMP00000223045;OTTHUMP00000223046;OTTHUMP00000223047;OTTHUMP00000223048;OTTHUMP00000223049;OTTHUMP00000223050;OTTHUMP00000223051;OTTHUMP00000223052;OTTHUMP00000223053;OTTHUMP00000223054;zinc finger protein 331;zinc finger protein 361;zinc finger protein 463 APPROVED protein-coding ENSG00000130844 15489 05827 606043 VALIDATED 7204955 ZNF33BP1 zinc finger protein 33B pseudogene 1 10 38082866 38084103 - 100419868 AA805749;ABBA01033296;AL132657;AL135791;AMYH01002259;NR_051997 Hs.741719 pseudo 44975 VALIDATED 732123 ZNF335 zinc finger protein 335 The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008] 20 20 20 q13.12 41288749 41312289 - 44010699 44034240 - 44577292 44600833 - 1580863;6480464 19131338;18180299;15302935;14702039;12477932;12215545;11780052;19505873;10737800;20379614;23178126 63925 Q8IW09;Q9H4Z2 ABBA01052673;AF395833;AK026157;AK027358;AK054694;AK074214;AK092485;AK122963;AK296989;AL162458;AMYH01011939;BC041331;BC142981;BF755826;CH471077;NG_029772;NM_022095 AAH41331;AAI66679;AAN09900;BAB15379;BAG59529;EAW75777;NP_071378;Q9H4Z2 Hs.174193 1659573;1663987;1694572;1722279;2155540 G43266;G60052;NIB54;RH12680;Z94554 MCPH10;NIF-1;NIF1;NIF2 NRC-interacting factor 1;OTTHUMP00000031195;zinc finger protein 335;zinc-finger/leucine-zipper co-transducer NIF1 APPROVED protein-coding ENSG00000198026 15807 11709 610827;615095 REVIEWED 1318499 ZNF334 zinc finger protein 334 This gene encodes a member of the C2H2 zinc finger family. The encoded protein contains a Krueppel-associated box, fourteen C2H2 zinc finger domains, and four C2H2-type/integrase DNA-binding domains. Decreased expression of this gene may be a marker for rheumatoid arthritis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] 20 20 20 q13.12 41841122 41853608 - 44563114 44575601 - 45128269 45142198 - 1580863;6480464 16189514;15489334;14702039;12477932;11780052;20738421;16344560 55713 M0R3E1;Q5XKG8;Q8N3P8;Q9HCZ1 ABBA01052680;AK001331;AK057717;AK095611;AL034424;AL354745;AL833936;AMYH01011943;BC024177;BC026321;BG720863;BG913079;CH471077;DA080528;DA101651;NM_001270497;NM_018102;NR_073026 AAH24177;AAH26321;ABZ92348;ADZ16015;BAA91630;BAG51955;CAD38791;EAW75732;EAW75733;EAW75734;EAW75735;NP_001257426;NP_060572;Q9HCZ1 Hs.147041 1693344;1696624;1784402 AL034497;SHGC-170806;SHGC-82938 OTTHUMP00000031209;zinc finger protein 334 APPROVED protein-coding 15806 15777 REVIEWED 1351426 ZNF33A zinc finger protein 33A 10 10 10 p11.2 38070210 38119636 + 38339584 38389001 + 38299578 38348995 + 1580863;6480464 8464732;16344560;15164054;12766061;12535642;12477932;7584044;2014798;21282530 7581 F6TH33;Q06730;Q9H5I4 ABBA01033289;ABBA01033290;AF063599;AF086531;AI300433;AK027057;AK292844;AK303445;AL117337;AL161931;AL712670;AMYH01002260;AY184389;BC017760;BC030511;BC126119;BF435065;CD679489;CH471072;D31763;DA276183;DA757208;DB134021;DB234051;DB235703;NM_001278170;NM_001278171;NM_001278173;NM_001278174;NM_001278175;NM_001278176;NM_001278177;NM_001278178;NM_001278179;NM_006954;NM_006974;X68686;X68687;X68689 AAG43158;AAH17760;AAH30511;AAI26120;AAO24702;ADR83385;BAA06541;BAB15642;BAF85533;BAG64490;CAA48645;CAA48646;CAA48648;EAW85888;EAW85889;EAW85890;EAW85891;EAW85892;EAW85893;EAW85894;NP_001265099;NP_001265100;NP_001265102;NP_001265103;NP_001265104;NP_001265105;NP_001265106;NP_001265107;NP_001265108;NP_008885;NP_008905;Q06730 Hs.435774 1670054;1675415;1684489;1793104;2139547;2162419;5038470 D10S2149;G15860;PMC196523P1;RH46113;RH47037;RH66219;WI-14693 FLJ23404;KIAA0065;KOX2;KOX31;KOX5;NF11A;ZNF11;ZNF11A;ZNF33;ZZAPK OTTHUMP00000019465;OTTHUMP00000019466;brain my041 protein;zinc finger and ZAK associated protein with KRAB domain;zinc finger and ZAK-associated protein with KRAB domain;zinc finger protein 11A;zinc finger protein 33A;zinc finger protein KOX31 protein-coding ENSG00000189180 13096 11710 194521 VALIDATED 1354357 ZNF337 zinc finger protein 337 20 20 20 p11.1 25728466 25751084 - 25602851 25625469 - 25654851 25677469 - 1580863;6480464 16189514;15489334;14702039;12477932;11780052;16169070 26152 B4DSM2;Q9Y3M9 ABBA01048714;AK056184;AK056466;AK125455;AK291235;AK299811;AL031673;AL049942;AMYH01011789;BC021298;BC034569;CH471133;NM_015655 AAH21298;BAC86169;BAF83924;BAG51641;BAG51720;BAG61684;CAB43216;EAX10077;EAX10078;NP_056470;Q9Y3M9 Hs.633621;Hs.661684 1659782;1689324 RH92647;Z94581 OTTHUMP00000030501;OTTHUMP00000030502;zinc finger protein 337 protein-coding ENSG00000130684 15809 15779 VALIDATED 1346802 ZNF341 zinc finger protein 341 20 20 20 q11.22 29072525 29132795 + 31783469 31843736 + 32319808 32380075 + 1580863;6480464 15231748;14702039;12477932;11780052;18029348;20881960 84905 B3KU97;E9PN62;E9PQQ0;Q9BYN7 ABBA01019218;ABBA01019219;ABBA01019220;ABBA01019221;AK027550;AK095848;AK096755;AK122943;AL050349;AMYH01011859;AMYH01011860;AMYH01011861;BC040440;BC063492;BC094738;BC132873;BC144188;BC146811;BC157823;CH471077;NM_032819 AAH94738;AAI32874;AAI44189;AAI46812;AAI57824;ADR83415;BAB55193;BAG53359;EAW76295;EAW76296;EAW76297;NP_116208;Q9BYN7 Hs.516989 1675878;2152853 RH92431;Z94663 OTTHUMP00000030670;OTTHUMP00000233911;zinc finger protein 341 protein-coding ENSG00000131061 15992 15781 VALIDATED 1347257 ZNF33B zinc finger protein 33B 10 10 10 q11.2 39087983 39137375 - 42404561 42453998 - 43084555 43133992 - 1580863;6480464 15489334;15164054;14702039;12566394;12477932;8464732;2288909;2014798;1639412;16169070;16385451;15383276 7582 Q06732 ABBA01049991;AF222749;AJ491697;AK025638;AK096683;AK304306;AK309564;AK310073;AL022345;AMYH01002282;BC035770;BC036398;BC048313;BC065181;BC107726;BC109232;BC160932;NM_006955;X52333;X68684;X68685;X68688 AAF26452;AAH48313;AAH65181;AAI07727;BAG65159;CAA36559;CAA48643;CAA48644;CAA48647;CAD36956;NP_008886;Q06732 Hs.732284 1667084;1674408;1681883;1684489;1688889;1793104;2122766;2139547;2174959;2220024;5024039 D16S325;G30579;PMC196523P1;RH46067;RH47037;RH70877;RH79239;STS-N26998;STS-N58295;WI-14693;ZNF11B__4957 FLJ23327;KOX2;KOX31;MGC129696;ZNF11B OTTHUMP00000019475;zinc finger protein 11b (KOX 2);zinc finger protein 33B;zinc finger protein KOX2 protein-coding ENSG00000196693 13097 01912 194522 PROVISIONAL 1343773 ZNF34 zinc finger protein 34 8 8 8 q24.3 142175990 142190229 - 145969303 145983529 - 145998499 146012725 - 1580863 8104631;2014798;16381901;15489336;15489334;14702039;12477932;11230166;11076863;20379614;22505724 80778 B3KU46;E9PNZ6;E9PSD0;Q8IZ26 ABBA01005195;AF086227;AF235103;AK096508;AL833814;AMYH01019163;BC004480;BC028136;CH471162;NM_030580 AAH04480;AAH28136;BAG53308;CAD38677;CAL37706;EAW82055;EAW82056;EAW82057;EAW82058;NP_085057;Q8IZ26 Hs.631854 1668534;5022578;5037552;5118576 D11S3430;D1S1423;D8S2279;SHGC-57335 KOX32;MGC10520 OTTHUMP00000229060;OTTHUMP00000229061;OTTHUMP00000229063;zinc finger protein 34;zinc finger protein KOX32 protein-coding ENSG00000196378 13098 11772 194526 VALIDATED 1344905 ZNF343 zinc finger protein 343 20 20 20 p13 2526894 2554212 - 2410463 2437778 - 2462463 2489778 - 6480464 15489334;14702039;12477932;11780052;21832049 79175 Q6P1L6 ABBA01053791;ABBA01053792;AK055734;AK096911;AL049650;AL133339;AMYH01011667;AMYH01011668;BC002897;BC011862;BC065009;CH471133;NM_024325 AAH02897;AAH11862;AAH65009;BAB71000;BAC04892;EAX10594;EAX10595;NP_077301;Q6P1L6 Hs.516846 1682537;2107353 MGC10715__7657;RH94135 FLJ39592;MGC10715;MGC20504;dJ734P14.5 OTTHUMP00000030027;OTTHUMP00000030028;OTTHUMP00000030029;OTTHUMP00000030030;OTTHUMP00000237596;zinc finger protein 343 protein-coding ENSG00000088876 16017 18327 VALIDATED 1343280 ZNF347 zinc finger protein 347 19 19 19 q13.42 50689168 50709538 - 58334460 58354096 - 53641957 53662322 - 1580863;6480464 14702039;12477932;16344560;21906983;22505724 84671 A8K1S9;M0QXR8;M0QZE2;M0QZJ6;M0R187;M0R1E9;Q96SE7 AA776564;AA978292;ABBA01068222;AC010328;AC092070;AI366675;AK095593;AK096623;AK289994;AK314603;AL713691;AMYH01009957;AY029765;BC002938;BC015611;BC136255;BC143412;CH471135;DB214217;DB316074;NM_001172674;NM_001172675;NM_032584 AAI36256;AAK37403;BAF82683;BAG37173;BAG53339;CAD28491;EAW72119;EAW72120;EAW72121;NP_001166145;NP_001166146;NP_115973;Q96SE7 Hs.467239 1335427;1759565;1855438;2136255;5015961;5020948;5022322;5037552 Bdaa5e10;D11S2560;D15S1477;D19S888;D8S2279;G35510;SHGC-151226;STS-H93450 ZNF1111 zinc finger 1111;zinc finger protein 1111;zinc finger protein 347 protein-coding ENSG00000197937 16447 15783 VALIDATED 1350063 ZNF345 zinc finger protein 345 19 19 19 q13.12 34125551 34154766 + 42033081 42062317 + 37341260 37384120 + 1580863;6480464 9278146;15489334;14702039;12477932;7865130;15342556;16344560 25850 B2RCE4;E9PLT7;F8W8R5;K7EKZ8;K7EM63;K7EQ01;K7ESK8;Q14585 ABBA01016190;ABBA01016191;ABBA01016192;AC008733;AC020928;AK094146;AK297516;AK315069;AMYH01009754;BC010386;BC032863;BP195158;DA625929;DB028175;DB085650;DB096099;DB289823;NM_001242472;NM_001242474;NM_001242475;NM_001242476;NM_003419;NR_038362;X78933 AAH32863;ABZ92018;BAG37541;BAG52826;BAH12601;CAA55533;NP_001229401;NP_001229403;NP_001229404;NP_001229405;NP_003410;Q14585 Hs.362324 1854318;5015961;5024756;5037552 D15S1477;D19S1039;D8S2279;RH80030 FLJ36827;FLJ51247;FLJ96023;HZF10;MGC33794 OTTHUMP00000232107;OTTHUMP00000232108;OTTHUMP00000232110;zinc finger protein 345;zinc finger protein HZF10 protein-coding ENSG00000251247 16367 10330 VALIDATED 1349739 ZNF355P zinc finger protein 355, pseudogene 21 q11.2 14468106 14529382 - 10830953;1740334 100505852 Q9NSJ1 AJ239321;AL163202;AMYH01012130;NG_028292 CAB90395;Q9NSJ1 PRED65;ZNF834 pseudo 17218 INFERRED 1317625 ZNF346 zinc finger protein 346 The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. [provided by RefSeq, Jul 2008] 5 5 5 q35.2 172007563 172051635 - 176382303 176426364 + 176449697 176493758 + 1580863;6480464 21145461;10488071;16381901;15489336;15489334;15254228;14702039;12477932;11230166;11076863;11256614;18029348;21139048;21715977;21903422;23382074 23567 B7Z367;B7Z4J8;B7Z4N4;B7Z6B6;B7Z6Q2;D6RJ07;Q9UL40 ABBA01033474;ABBA01033475;ABBA01033476;AC027317;AF083340;AK024650;AK026627;AK131469;AK295549;AK297448;AK300065;AK300738;AL359576;AMYH01015866;AMYH01015867;BC007775;CB988061;CH471195;CR749692;NM_012279 AAD52018;AAH07775;BAD18614;BAH12103;BAH12584;BAH13202;BAH13338;CAH18475;CAL37677;CAL38643;EAW85038;EAW85039;EAW85040;NP_036411;Q9UL40 Hs.484259 1740371;1767520;1776609;1848494;2110089;2184299 D5S2196E;D5S2703;D5S2863;RH47837;SGC32143;ZNF346__4826 DKFZp547M223;JAZ;Zfp346 OTTHUMP00000161434;OTTHUMP00000223533;OTTHUMP00000223535;OTTHUMP00000223537;double-stranded RNA-binding zinc finger protein JAZ;just another zinc finger protein;zinc finger protein 346 APPROVED protein-coding 16403 05606 605308 REVIEWED 1345042 ZNF35P zinc finger protein 35 (clone HF.10) pseudogene 1572646 7585 13100 1320503 ZNF35 zinc finger protein 35 3 3 3 p21.32 44628226 44640276 + 44665237 44677287 + 44690233 44702283 + 1580863;6480464 1572646;2108922;15489334;15342556;12477932;7814019;3380682;8477855;20211142;21832049 7584 B4DUB8;C9J011;C9JGR2;C9JGS9;P13682 ABBA01024739;AC099669;AC124045;AK300581;AK314821;AMYH01013121;BC013597;BC015892;BP237260;BT006962;CH471055;L35269;NM_003420;X07289 AAA85451;AAH13597;AAP35608;BAG37343;BAG62280;CAA30268;EAW64715;EAW64716;NP_003411;P13682 Hs.288658 2108675;2111212;2158398;2184922;5038609 D3S1751E;SHGC-76875;SHGC-76885;STS-L35269;ZNF35_8735 HF.10;HF10;Zfp105 OTTHUMP00000164121;OTTHUMP00000209722;OTTHUMP00000209724;zinc finger protein 35;zinc finger protein 35 (clone HF.10);zinc finger protein HF.10 protein-coding ENSG00000169981 13099 01920 194533 VALIDATED 1353304 ZNF354A zinc finger protein 354A 5 5 5 q35.3 173765092 173784470 - 178071128 178090309 - 178138522 178157703 - 1580863;1300202;2291889;6480464 8382778;9788609 8986806;9919311;14760703;12477932;10842194;9465904;8889548;12943985;20628624;21139048 6940 E5RGC2;E5RHT5;O60765 ABBA01010004;AC113348;AF116030;AK290711;AMYH01015946;BC036517;BC047105;BU685427;CH471165;D89928;NM_005649 AAD05335;AAH47105;ABZ92435;ADZ15554;BAA25182;BAF83400;EAW53830;NP_005640;O60765 Hs.484324 1691092 RH98503 EZNF;HKL1;KID-1;KID1;TCF17 OTTHUMP00000161496;OTTHUMP00000224336;TCF-17;transcription factor 17;zinc finger protein 354A;zinc finger protein eZNF protein-coding ENSG00000169131 11628 03900 602444 VALIDATED 1342631 ZNF350 zinc finger protein 350 19 19 q13.41 57159405 57181891 - 52467593 52490079 - 1580863;6480464 11090615;18029348;19484476;19279087;18950845;18676680;17764113;17557904;16997916;16485136;16344560;15596820;15496401;15113441;14702039;14660588;14517299;12872252;12477932;11161714;8889548;14755250;14690447;20926453;15231748;19170196;19625176;19692168;19996286;20007691;20150366;20221260;20306497;17079232;20644561;20713352;22975076;21791101;23151675;16843262 59348 M0QY52;M0QYT6;M0R017;M0R1T8;Q9GZX5 ABBA01068262;AC011460;AF295096;AF309561;AK021864;AK023467;AMYH01009954;AU135269;BC009921;BM674621;CH471135;NM_021632 AAG17439;AAG25714;AAH09921;ABM84000;ABM87330;BAB14583;EAW72056;NP_067645;Q9GZX5 Hs.407694 2115441;2157603;5014051;5022651;5037552 D11S2921;D8S2278;D8S2279;RH41908;RH48568 ZBRK1;ZFQR KRAB zinc finger protein ZFQR;zinc finger and BRCA1-interacting protein with a KRAB domain 1;zinc finger protein 350;zinc finger protein ZBRK1;zinc-finger protein ZBRK1 protein-coding ENSG00000256683 16656 05663 605422 VALIDATED 1602182 ZNF362 zinc finger protein 362 1 1 1 p35.1 32007735 32037981 + 33494761 33538907 + 33722174 33766320 + 6480464 17000644;12477932;10737800;19322201 149076 F5H055;Q5T0B9 ABBA01023380;AF318356;AK098342;AL513327;AMYH01000479;AW204855;BC065039;BC071632;BC103704;BC104779;BC112113;BF743001;BX283663;CH471059;NM_152493 AAI04780;AAI12114;AAL55863;ABZ92113;BAC05287;EAX07464;NP_689706;Q5T0B9 Hs.743358 1666224;1772182;1858419 G21909;SGC34497;SHGC-30968 FLJ25476;MGC138318;RN;lin-29 OTTHUMP00000004282;flj25476 protein;rotund homolog;zinc finger protein 362 protein-coding ENSG00000160094 18079 13394 VALIDATED 1346578 ZNF354B zinc finger protein 354B 5 5 5 q35.3 173914525 173938862 + 178219607 178244021 + 178286954 178311424 + 1580863;6480464 15489334;14702039;12477932 117608 E5RH89;Q96LW1 AA599717;ABBA01010008;AC126915;AI683630;AK057737;AK289667;AMYH01015947;BC022190;BC036466;BC104777;BC112111;CH471165;NM_058230 AAI04778;AAI12112;ABZ92127;BAB71556;BAF82356;EAW53828;NP_478137;Q96LW1 Hs.724051 1691092;2220044 RH98503;ZNF354B__4830 FLJ25008;KID2;MGC138316 OTTHUMP00000161497;OTTHUMP00000224390;zinc finger protein 354B protein-coding 17197 15784 VALIDATED 736972 ZNF354C zinc finger protein 354C 5 5 5 q35 174114833 174134921 + 178420213 178440301 + 178487607 178507695 + 6480464 15555547;15489334;12477932;10786630;22505724 30832 Q86Y25;Q9NT78 ABBA01010012;AC104117;AF395540;AF525463;AL137483;AMYH01015949;AMYH01015950;BC063312;CH471165;NM_014594 AAH63312;AAM69676;AAO83897;CAB70764;EAW53817;NP_055409;Q86Y25 Hs.272328 1785662;2177748 SHGC-64768;STS-N32537 KID3 KRAB-zinc finger protein synten;OTTHUMP00000161488;hKID3;kidney, ischemia, and developmentally-regulated protein 3;zinc finger protein 354C protein-coding 16736 15785 PROVISIONAL 2796115 ZNF37C zinc finger protein 37C, pseudogene 10 10 10 p11 37943324 37943802 + 38212453 38213131 + 38172548 38173026 + 79232 ABBA01033292;AL132659;AMYH01002259;NG_002660 BA775A3.1 APPROVED pseudo 29445 INFERRED 1349378 ZNF381P zinc finger protein 381, Y-linked pseudogene Y q11.223 23605570 23606703 + 12815422;9847074 246123 AC010088;NG_004755 pseudo 18575 1321306 ZNF358 zinc finger protein 358 19 19 19 p13.2 7453515 7458434 + 7487004 7491911 + 7581004 7585911 + 1580863;6480464 14702039;15489334;12477932;12036583;11013137;21890473 140467 M0R2S5;Q9NW07 ABBA01010900;AC008878;AK001252;AMYH01009406;BC003585;BC014002;BI601846;C15772;CH471139;NM_018083 AAH03585;AAH14002;ABZ92101;BAA91582;EAW69035;NP_060553;Q9NW07 Hs.133475 1655491;1680104 RH68764;RH93812 FLJ10390;ZFEND OTTHUMP00000196562;zinc finger protein 358 protein-coding ENSG00000198816 16838 10331 VALIDATED 1605085 ZNF365 zinc finger protein 365 This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010] 10 10 q21.2 63803922 64101777 + 64133916 64431771 + 6480464;7240710 21832049;16682949;18587394;16617106;15489334;15363853;15164054;12740763;12477932;11309680;10048485;16385451;17554300;20222910;20379614;19191256;21102463;20453838;19760754;21072187;21278746;21257989;17043677;21908515;22327514;22412388;22449649;22351618;22747683;22936669;23042114 22891 C9J1G1;Q08ER3;Q495P1;Q70YC4;Q70YC6 AB020651;ABBA01019489;ABBA01019490;ABBA01019491;AC024597;AC024598;AC067751;AC067752;AJ505147;AJ505148;AJ505149;AJ505150;AK289515;AK289808;AMYH01002773;AMYH01002774;AY547355;BC017841;BC035049;BC044306;BC060817;BC070073;BC101082;BC101083;BC101084;BC101085;BF512570;BX647853;BX647904;CH471083;CQ866772;DB476702;NG_021209;NM_014951;NM_199450;NM_199451;NM_199452 AAH17841;AAH35049;AAH60817;AAI01083;AAI01084;AAI01085;AAI01086;AAI52973;AAI56629;AAT27443;BAA74867;BAF82204;BAF82497;CAD43726;CAD43727;CAD43728;CAD43729;CAH25993;CAI46100;EAW54233;EAW54234;NP_055766;NP_955522;NP_955523;NP_955524;Q70YC4;Q70YC5 Hs.22653 1338425;1650505;1658423;2219768 D10S1652;G17489;WI-13670;ZNF365__4832 KIAA0844;MGC41821;MGC87345;Su48;UAN;ZNF365D OTTHUMP00000019672;OTTHUMP00000179095;OTTHUMP00000179097;OTTHUMP00000179098;protein ZNF365;protein su48;talanin APPROVED protein-coding ENSG00000138311 18194 06380 605990;607818 REVIEWED 1323532 ZNF383 zinc finger protein 383 19 19 19 q13.12 34501624 34518835 + 42409206 42426414 + 37717366 37734574 + 1580863;6480464 15964543;14702039;20211142 163087 K7EJN0;K7ELW4;Q8NA42 ABBA01016184;AC012309;AK091760;AK093182;AK122892;AMYH01009754;AMYH01009755;AY260141;AY438646;NM_152604 AAI48613;AAP20067;AAR14184;BAC04086;BAG52412;NP_689817;Q8NA42 Hs.590975 1337835;5037552 D19S570;D8S2279 FLJ35863;HSD17 zinc finger protein 383 protein-coding ENSG00000188283 18609 15786 PROVISIONAL 1314635 ZNF366 zinc finger protein 366 5 5 5 q13.2 67634623 67698641 - 71774990 71839005 - 71739234 71803249 - 1580863;6480464 19525478;17903296;17085477;16393996;16381901;15489336;14702039;12477932;12234665;11230166;11076863;20379614;20478364;22473304;21122099;23440419;22615205 167465 D6R9P7;F8W732;Q8N895 ABBA01061906;AC008457;AC093278;AK097115;AMYH01015402;BC029955;BC121053;BC121054;BK000210;BX647592;CH471084;NM_152625 AAI21054;AAI21055;BAC04954;CAI46096;CAL37884;DAA00066;EAW95707;NP_689838;Q8N895 Hs.370303 1754249;2130276;2220046;5037552 D8S2279;SHGC-132270;SHGC-17917;ZNF366__4833 DCSCRIPT;FLJ39796 OTTHUMP00000126957;zinc finger protein 366 protein-coding 18316 18329 610159 PROVISIONAL 1349259 ZNF384OS zinc finger protein 384 opposite strand 404213 U80760 25101 1316151 ZNF367 zinc finger protein 367 9 9 9 q22 69589805 69622246 - 98190057 98220490 - 99148223 99180669 - 1580863;6480464 15344908;14702039;12477932;12234665;18029348 195828 Q7RTV3 ABBA01043589;ABBA01043590;ABBA01043591;AK091289;AL133477;AL160269;AMYH01021543;AMYH01021544;AY554164;AY554165;BC126141;BK000211;BX116676;CH471174;DR000756;NM_153695 AAI26142;AAS66302;AAS66303;DAA00067;EAW92649;EAW92650;NP_710162;Q7RTV3 Hs.494557 CDC14B;FLJ33970;ZFF29 C2H2 zinc finger protein ZFF29;C2H2 zinc finger protein ZFF29a;CDC14 cell division cycle 14 homolog B;OTTHUMP00000021721;zinc finger protein 367 protein-coding ENSG00000165244 18320 18330 610160 VALIDATED 1352896 ZNF37A zinc finger protein 37A 10 10 10 p11.2 38154521 38183653 + 38423281 38452286 + 38383264 38412280 + 1580863;6480464 8464732;15489334;15164054;14702039;12566394;12477932;2288909;2014798 7587 P17032 AA742606;ABBA01033286;ABBA01033287;AJ492195;AK092012;AK130521;AL117339;AL708537;AMYH01002261;BC015858;BX647089;CH471072;NM_001007094;NM_001178101;NM_003421;X52352;X69115 AAH15858;ACE86674;ACE87359;ADZ15438;BAG52465;CAA36578;CAA48868;CAD37331;EAW85884;EAW85885;EAW85886;EAW85887;NP_001007095;NP_001171572;NP_003412;P17032 Hs.292575 1644796;1661208;1671083;1687321;2109013;5111492;5124648 D13S1462;RH11329;RH66682;RH92928;STS-F02845;WI-16960;ZNF37A_8736 FLJ3472;KOX21;ZNF37 OTTHUMP00000019467;zinc finger protein 37A;zinc finger protein KOX21 protein-coding ENSG00000075407 13102 18508 VALIDATED 1352355 ZNF382 zinc finger protein 382 This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] 19 19 19 q13.12 33880792 33904099 + 41788061 41811339 + 37096207 37119499 + 1580863;6480464 14702039;12477932;12459182;11154279;9835615;20682794;21876767;14519192;22505724 84911 C9JME7;K7EK67;K7EQ52;Q96SR6 ABBA01016200;ABBA01016201;AC074138;AC092295;AF513816;AK027592;AL832265;AMYH01009750;AY227449;BC038358;BC132675;CD690493;NM_001256838;NM_032825 AAI32676;AAI56540;AAI72501;AAM48246;AAO72308;BAB55217;CAI46159;NP_001243767;NP_116214;Q96SR6 Hs.631591 1708856;1719079 RH123256;SHGC-83924 FLJ14686;KS1 KRAB/zinc finger suppressor protein 1;OTTHUMP00000045834;OTTHUMP00000208122;OTTHUMP00000208123;multiple zinc finger and krueppel-associated box protein KS1;multiple-zinc-finger-Kruppel-associated box protein KS1;zinc finger protein 382 APPROVED protein-coding ENSG00000161298 17409 18331 609516 REVIEWED 6481171 ZNF385D-AS1 ZNF385D antisense RNA 1 100874216 AC009429 APPROVED miscrna 41136 6481176 ZNF385D-AS2 ZNF385D antisense RNA 2 100874221 AC096918 APPROVED miscrna 42420 1322504 ZNF385B zinc finger protein 385B 2 2 2 q31.2-q31.3 173901060 174320479 - 180014954 180434312 - 180306709 180726232 - 737633;6480464 12477932 19401682;19240061;16344560;15489334;14702039;21658281;20379614;20849254;22945289;23029477 151126 C9J0U3;C9JKK0;C9JPH4;E9PB85;Q569K4 ABBA01062260;ABBA01062261;ABBA01062262;AC062033;AC068042;AC092642;AC093604;AK057999;AK096822;AK131432;AMYH01011309;BC033042;BC038422;BC048123;BC092423;BX443173;CH471058;DA993893;NM_001113397;NM_001113398;NM_152520;NR_049778 AAH38422;AAH48123;AAH92423;AAY24285;AAY24322;AAY24346;BAB71629;BAC04870;BAD18578;EAX11005;NP_001106868;NP_001106869;NP_689733;Q569K4 Hs.655005 1676368;1677076;1704910;1727221;1734916;1761987;1772753;1772755;1773197;1776245;2116932;2122140;2146029;2162147;2166389;2175867 A004T05;D2S1688E;G62865;HSCZWH062;RH16619;RH70245;RH79969;RH92369;SHGC-145912;SHGC-30595;SHGC-30987;SHGC-33600;SHGC-62009;SHGC-79932;WI-13543;WIAF-1675 FLJ25270;ZFN533;ZNF533 OTTHUMP00000206077;OTTHUMP00000206078;OTTHUMP00000206079;OTTHUMP00000206102;OTTHUMP00000206106;zinc finger protein 385B;zinc finger protein 533 protein-coding ENSG00000144331 26332 15823 612344 VALIDATED 1606933 ZNF37BP zinc finger protein 37B, pseudogene 10 10 10 q11.21 39012403 39051728 - 42334641 42367504 - 43008958 43048280 - 6480464 16344560;14702039;8889548;8464732;2014798;12477932;11181995 100129482 ABBA01049990;AK026980;AK123297;AK308832;AL022345;AMYH01002282;BC045697;BU686118;CH471160;DA394347;DB258164;NR_026777 EAW86559;EAW86560;EAW86561;EAW86562 Hs.278064;Hs.684178 1336439;1644796;1659814;1849916;1850809;2109013;2122044;5022578 A007J03;D10S1746;D1S1423;RH11329;RH78962;SHGC-37176;STS-H83279;ZNF37A_8736 FLJ23327;FLJ41303;FLJ98873;KOX21;ZNF37B APPROVED pseudo 13103 VALIDATED 1604507 ZNF385C zinc finger protein 385C 17 17 17 q21.2 36833964 36845088 - 37431120 37434233 - 40177594 40190044 - 6480464 15146197;12477932 201181 C9J6X6;Q66K41 ABBA01006441;AC105024;AMYH01008390;BC067901;BC080613;CN264203;H06009;NM_001242704 AAH80613;NP_001229633;Q66K41 Hs.443140 1647892;1661707;1666875;1697430;1856659 D17S1211;D17S1693;RH102215;WI-12446;WI-21902 OTTHUMP00000211618;OTTHUMP00000211619;zinc finger protein 385C protein-coding 33722 13245 VALIDATED 1345674 ZNF384 zinc finger protein 384 This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011] 12 12 p12 6645904 6668930 - 6775643 6798738 - 1299380;1580863;6480464 11149472 18029348;18185522;16510139;15990865;15342556;14702039;12477932;12359745;11956602;11862394;9225980;21504714;19426707;19454010;20211142;11752456;16344560;21903422;21139048 171017 E9PHB3;F5GYZ1;F5H0D6;F5H105;F5H3Z9;F5H6N8;F5H8L7;F8W6Q3;Q8TF68;R4GMR4 AB070238;ABBA01017650;AC125494;AK095734;AK298784;AK298962;AL047622;AL047623;AMYH01004205;AV689743;BC053361;BM554320;BP312309;BP363856;BX401142;CA442809;CH471116;CR987433;CR993835;DA849784;DQ323638;DQ323639;NM_001039920;NM_001135734;NM_133476;U80738 AAB91437;AAH53361;ABD27869;ABD27870;BAB85125;BAC04618;BAG60923;BAG61058;EAW88755;EAW88756;EAW88757;EAW88758;EAW88759;EAW88760;NP_001035009;NP_001129206;NP_597733;Q8TF68 Hs.103315;Hs.714839 1725713;1745925;1848837;2142486;2142950;2171968;2171970 A007A30;G62054;G64275;RH44540;RH45060;SHGC-63590;WI-20949 CAGH1;CAGH1A;CIZ;ERDA2;FLJ59043;NMP4;NP;TNRC1 CAG repeat protein 1;Cas-interacting zinc finger protein;OTTHUMP00000239247;OTTHUMP00000239248;OTTHUMP00000239249;OTTHUMP00000239250;expanded repeat domain, CAG/CTG 2;nuclear matrix protein 4;nuclear matrix transcription factor 4;trinucleotide repeat containing 1;trinucleotide repeat-containing gene 1 protein;zinc finger protein 384 APPROVED protein-coding ENSG00000126746 11955 18332 609951 REVIEWED 1354143 ZNF385D zinc finger protein 385D 3 3 3 p24.3 21404079 21734374 - 21437651 21767820 - 21462490 21792816 - 737633;1580863;6480464 12477932 15489334;14702039;20522523;17207965;18711365;20379614;23192594;23362303 79750 F8WEJ0;Q9H6B1 ABBA01025060;ABBA01025061;AC009429;AC092504;AC096914;AC104183;AK026072;AK310298;AMYH01013018;AMYH01013019;AMYH01013020;AMYH01013021;BC007212;CH471055;NM_024697 AAH07212;ADQ31786;BAB15350;EAW64312;EAW64313;NP_078973;Q9H6B1 Hs.21026 1668417;1681742;1695178;1705008;1718489;1739781;1760207;1774481;2115700;2121471;2122980;2160481;2177001 D3S2414;D3S3478E;G48229;RH122446;RH66256;RH92414;SHGC-132489;SHGC-33079;SHGC-76762;SHGC-76765;SHGC-76768;SHGC-78019;WI-21102 FLJ22419;ZNF659 OTTHUMP00000161051;zinc finger protein 385D;zinc finger protein 659 protein-coding 26191 07990 VALIDATED 1315468 ZNF385A zinc finger protein 385A Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008] 12 12 12 q13.13 54414766 54436926 - 53049187 53064748 - 54762920 54785083 - 1580863;6480464 17719541;16344560;15527981;15489334;14702039;12477932;11927637;10585558;21697133 25946 F8VQ24;F8VRY0;F8VSJ1;F8VWV6;F8VY43;H0YI55;H0YIX3;Q96PM9 AB593085;ABBA01008371;ABBA01008372;AC078778;AC079313;AF304052;AK024404;AK092724;AK296564;AK315613;AL117462;AMYH01004488;AY461717;BC029752;CH471054;CR457327;DB116264;NM_001130967;NM_001130968;NM_015481 AAH29752;AAL08625;AAS19275;BAB14910;BAG37982;BAG59184;BAJ84025;CAB55938;CAG33608;EAW96777;EAW96778;EAW96779;NP_001124439;NP_001124440;NP_056296;Q96PM9 Hs.505653 1769491;2191339 MARC_17697-17698:1031753921:1;RH158 DKFZp586G1122;HZF;RZF;ZFP385;ZNF385 OTTHUMP00000242247;OTTHUMP00000242248;OTTHUMP00000242249;OTTHUMP00000242251;OTTHUMP00000242252;OTTHUMP00000242253;hematopoietic zinc finger protein;retinal zinc finger protein;zinc finger protein 385;zinc finger protein 385A APPROVED protein-coding ENSG00000161642 17521 16448 609124 VALIDATED 1348699 ZNF39L2 zinc finger protein 39-like 2 (KOX 27) 2014798 7591 13106 1343788 ZNF402P zinc finger protein 402, pseudogene 22 22 22 q11.1 960300 963995 - 15718026 15721721 - 17338026 17341721 - 266673 ABBA01001462;AC006548;AC007064;AMYH01012421;NG_002664 APPROVED pseudo 19292 VALIDATED 1606101 ZNF391 zinc finger protein 391 6 6 6 p22.1 28962499 28975220 + 27464503 27477206 + 27356524 27369227 + 6480464 16344560;14702039;12477932 346157 C9JUF8;Q9UJN7 ABBA01037994;AK092633;AK294965;AL031118;AMYH01016188;BC132797;BX282552;CH471081;DB221901;NM_001076781;U80232 AAD00353;AAI56668;BAG58038;EAX03096;NP_001070249;Q9UJN7 Hs.651176 dJ153G14.3 OTTHUMP00000016180;OTTHUMP00000214625;zinc finger protein 391 protein-coding 18779 18461 VALIDATED 1347461 ZNF396 zinc finger protein 396 18 18 18 q12 29754500 29765152 - 31200659 31211299 - 32946661 32957301 - 1580863 14702039;12801647;12477932;20211142 252884 K7EK38;K7ERR8;Q96N95 ABBA01022448;AC007998;AF492004;AF533251;AK055775;AMYH01008936;BC036765;BC130288;BC136314;CH471088;NM_145756 AAI30289;AAI36315;AAM09559;AAM95992;ADR83130;BAB71010;EAX01352;EAX01353;EAX01354;NP_665699;Q96N95 Hs.351005 1689965;5037552 D8S2279;RH76055 FLJ31213;ZSCAN14 OTTHUMP00000163379;OTTHUMP00000163380;zinc finger and SCAN domain-containing protein 14;zinc finger protein 396 protein-coding ENSG00000186496 18824 18334 609600 VALIDATED 1354133 ZNF394 zinc finger protein 394 7 7 7 q22.1 93825054 93832084 - 98928790 98935813 - 99090854 99097877 - 6480464 15489334;15249231;14702039;12690205;12477932;8125298;22318606;22505724 84124 Q05DA6;Q53GI3 AACC02000084;ABBA01013259;AC073063;AJ297365;AK022360;AK172865;AK222948;AMYH01017721;AY642122;BC017051;BC025241;BC051847;CH236956;CH471091;NM_032164 AAH17051;AAH25241;AAH51847;AAT67053;ABZ92205;BAB14021;BAD96668;CAB95950;EAL23874;EAW76659;NP_115540;Q53GI3 Hs.386324 FLJ12298;ZKSCAN14;ZSCAN46 OTTHUMP00000206365;zinc finger protein 394;zinc finger protein 99;zinc finger protein with KRAB and SCAN domains 14 protein-coding ENSG00000160908 18832 18333 PROVISIONAL 1317282 ZNF395 zinc finger protein 395 8 8 8 p21.1 27162953 27203836 - 28259021 28299896 - 28203102 28243977 - 1580863;6480464 14625278;17897615;17531190;15489334;14702039;12477932;11853404;15289353;19018758;19322201;23142027 55893 E5RFV4;E5RG59;E5RGF1;E5RH90;H0YAN1;Q7L9C8;Q9NS59 AB044750;AB044751;AB044752;AB057659;AB073627;ABBA01005597;ABBA01005598;AC021678;AC025871;AF263928;AI049727;AK002050;AK021850;AK023418;AK026076;AK098243;AK312078;AL137588;AMYH01018604;BC001237;BC002919;BC008870;BC063660;BG249131;BG759384;BI917232;CB960515;CH471080;NM_018660 AAF73463;AAH01237;ABZ92352;BAA92056;BAA96783;BAA96784;BAA96785;BAB14571;BAB15352;BAB39851;BAD29734;BAG35014;BAG53599;EAW63519;EAW63520;EAW63521;EAW63522;EAW63523;EAW63524;NP_061130;Q9H8N7 Hs.435535;Hs.695998 1650305;1739147;1745919;1769982;1770871;1850342;1852680;2118359;2152739;2153788;2172091 1814;A002O09;D8S1065;D8S1407E;D8S1549;G09787;G64297;RH66113;RH78217;RH78605;STS-R33496 DKFZp434K1210;HDBP-2;HDBP2;HDRF-2;PBF;PRF-1;PRF1;Si-1-8-14 HD gene regulatory region-binding protein 2;HD-regulating factor 2;HDBP-2;HDRF-2;Huntington's disease gene regulatory region-binding protein 2;OTTHUMP00000128330;OTTHUMP00000225341;OTTHUMP00000225342;huntington disease gene regulatory region-binding protein 2;papillomavirus regulatory factor 1;papillomavirus regulatory factor PRF-1;papillomavirus-binding factor;zinc finger protein 395 protein-coding ENSG00000186918 18737 11711 609494 VALIDATED 1344883 ZNF407 zinc finger protein 407 This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] 18 18 18 q23 69163335 69596635 + 70471907 70906616 + 72342919 72777628 + 1580863;6480464 16344560;14702039;11214970;21145461;22675492;19913121;20628086;19690890;20379614;20211142;21906983;23195952 55628 Q9C0G0 AB051490;ABBA01015263;ABBA01015264;ABBA01015265;ABBA01015266;ABBA01015267;AC015819;AC023380;AC091589;AC100783;AC138660;AK000314;AK000317;AK023901;AK056288;AK128356;AMYH01009097;AMYH01009098;AMYH01009099;CH471117;DB096147;NG_013216;NM_001146189;NM_001146190;NM_017757 BAA91077;BAA91080;BAB21794;BAB71139;EAW66565;EAW66566;NP_001139661;NP_001139662;NP_060227;Q9C0G0 Hs.536490 1647533;1667852;1676494;1695268;1703952;1708284;1719083;1719643;1762717;1783762;1788996;2116818;2120738;2180269;2181317;5125910 D18S489;D18S839;G65577;RH123258;RH123726;RH91533;SGC36924;SHGC-146505;SHGC-17251;SHGC-30832;SHGC-30835;SHGC-62985;SHGC-68475;SHGC-79409;SHGC-83665;WI-18089 FLJ13839;FLJ20307;KIAA1703 zinc finger protein 407 APPROVED protein-coding ENSG00000215421 19904 11713 REVIEWED 1321155 ZNF409 zinc finger protein 409 14 q11.2 23066981 23090692 - 1580863 18029348;10470851 22830 AB028979;AL135999;BC131533;XM_375065;XM_941446 AAI31534;BAA83008;Q9UPU6;XP_375065;XP_946539 Hs.508937 FLJ42478 protein-coding 20042 1345407 ZNF398 zinc finger protein 398 This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q36.1 143492686 143549312 + 148454441 148511052 + 148823508 148880134 + 1580863;6480464 11779858;15489334;12853948;12690205;12477932;10718198 57541 B4DXA9;Q8TD17 AACC02000041;AB037760;ABBA01033621;ABBA01033622;ABBA01033623;ABBA01033624;AC004890;AC073422;AK026380;AK290499;AK301890;AK304369;AK304603;AMYH01018117;AY049742;AY049743;AY049744;BC043295;BE670664;CH471146;CQ834816;NM_020781;NM_170686 AAH43295;AAK92788;AAK92789;BAA92577;BAF83188;BAG63321;BAG65208;BAG65389;CAH05623;EAL24428;EAL24429;EAW80057;EAW80058;EAW80059;EAW80060;NP_065832;NP_733787;Q8TD17 Hs.632032 1652561;1675439;1686468;1847149;1850049;2129382 A008W17;D7S2870;RH69824;RH75512;RH92590;WI-20304 KIAA1339;P51;P71;ZER6 OTTHUMP00000213762;OTTHUMP00000213763;OTTHUMP00000213764;OTTHUMP00000213765;zinc finger DNA binding protein ZER6;zinc finger DNA binding protein p52/p71;zinc finger DNA-binding protein p52/p71;zinc finger protein 398;zinc finger-estrogen receptor interaction, clone 6 APPROVED protein-coding ENSG00000197024 18373 18336 REVIEWED 1346088 ZNF404 zinc finger protein 404 19 19 19 q13.31 41180043 41191643 - 49068355 49079956 - 44376515 44388116 - 6480464 12743021;12477932;8889548 342908 K7ELF2;Q494X3 ABBA01040871;AC011508;AK300120;AMYH01009840;AY166785;BC101332;BC101333;BQ188692;CH471126;NM_001033719 AAI01333;AAI01334;AAO45834;BAG61912;EAW57234;NP_001028891;Q494X3 Hs.76561 2148380 SHGC-33269 MGC120455 zinc finger protein 404 protein-coding ENSG00000176222 19417 18787 VALIDATED 1314512 ZNF397 zinc finger protein 397 This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009] 18 18 18 q12.2 29628890 29646298 + 31075017 31092357 + 32820994 32838397 + 1580863;6480464 18369653;18029348;16344560;15489334;14702039;12801647;12477932;1505991;20211142;21890473;21906983;22505724 84307 K7EIM5;K7ERU5;M0R288;Q8NF99;Q96K65 AA805259;ABBA01022451;AC011815;AF533250;AK027384;AK311533;AMYH01008936;AY157641;BC006172;BI772202;CH471088;DB047444;NG_015815;NM_001135178;NM_032347 AAH06172;AAM95991;AAN65175;ABZ92206;BAB55075;EAX01341;EAX01342;EAX01343;NP_001128650;NP_115723;Q8NF99 Hs.591061 1684694;1687107;1754613;2174470;2175409 RH16480;RH69802;RH78807;SHGC-132945;SHGC-34458 MGC13250;ZNF47;ZSCAN15 zinc finger and SCAN domain-containing protein 15;zinc finger protein 397;zinc finger protein 47 APPROVED protein-coding ENSG00000186812 18818 18335 609601 REVIEWED 1315189 ZNF408 zinc finger protein 408 11 11 11 p11.2 46870748 46875897 + 46678944 46684037 + 46722317 46727466 + 1580863;6480464 15231747;16189514;15489334;14702039;14667819;12477932;16344560;18255255;19060904;19801982;20211142;18482256;22504420 79797 B4DXY4;Q9H9D4 ABBA01060733;AC115088;AF346626;AK022889;AK302180;AMYH01003536;AW246726;BC013355;BC015708;CH471064;DA015297;NM_001184751;NM_024741 AAH13355;AAH15708;AAK29075;ABZ92061;ACT64457;ACT64458;BAB14295;BAG63546;EAW67981;NP_001171680;NP_079017;Q9H9D4 Hs.656931 1858429;2124258 RH11922;RH36421 FLJ12827 OTTHUMP00000233494;PR domain zinc finger protein 17;zinc finger protein 408 protein-coding ENSG00000175213 20041 18338 VALIDATED 1346984 ZNF41 zinc finger protein 41 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. Several alternatively spliced transcript variants have been described, however, the full-length nature of only some of them is known. [provided by RefSeq, Jul 2008] X X X p11.23 51500825 51537610 - 47191347 47227289 - 47305561 47342345 - 1580863;6480464;7240710 15772651;15489334;15231748;14628291;12477932;10449920;8088786;2037297;1945843;20211142 7592 B1AQ29;Q9UMV8 AB209520;ABBA01052362;ABBA01052363;ABBA01052364;AJ010017;AJ010018;AJ010019;AJ010020;AJ010021;AJ010022;AJ010023;AK290021;AK294858;AL590223;AL590283;AMYH01022262;BC015023;CH471164;M92443;NG_008238;NM_007130;NM_153380;X60155;Z84466 AAA61312;AAH15023;ABZ92439;ADZ16042;BAD92757;BAF82710;BAG57962;CAB51740;CAB53035;CAB53036;CAB53037;CAB53038;CAB53039;CAB53040;CAB53041;EAW59300;EAW59301;EAW59302;EAW59303;EAW59304;EAW59305;EAW59306;EAW59307;EAW59308;NP_009061;NP_700359;P51814 Hs.496074;Hs.737678 1702148;1740203;7184019;7184686 DXS1004E;DXS7585 MGC8941;MRX89 OTTHUMP00000023219;OTTHUMP00000023220;OTTHUMP00000023221;zinc finger protein 41 APPROVED protein-coding ENSG00000147124 13107 02447 300848;314995 REVIEWED 1603942 ZNF414 zinc finger protein 414 19 19 19 p13.2 8433126 8436712 - 8482219 8485032 - 8575462 8579048 - 6480464 16189514;15489334;12477932;16344560;21044950 84330 M0R0Q5;M0R1G8;M0R2Q9;M0R398;Q96IQ9 ABBA01010841;AC092298;AI937020;AK074191;AK225034;AMYH01009443;BC007310;BC071937;BM141801;BQ773835;BU621653;CH471139;DA257941;NM_001146175;NM_032370 AAH07310;AAH71937;ABZ92068;EAW68913;EAW68914;EAW68915;EAW68916;NP_001139647;NP_115746;Q96IQ9 Hs.515114 2191497 MARC_24085-24086:1037392210:1 MGC15716;Zfp414 zinc finger protein 414 protein-coding ENSG00000133250 20630 17511 VALIDATED 1313783 ZNF410 zinc finger protein 410 14 14 14 q24.3 54390533 54435749 + 73423339 73468556 + 74353318 74398991 + 6480464 18470879;15489334;12477932;12370286;9110174;8619474;8125298;16169070;20379614;20211142;21832049 57862 G3V2C2;G3V2G5;G3V2V5;G3V369;G3V398;G3V3W2;G3V4E6;G3V4H7;G3V4W2;G3V565;H0YJI7;H0YJQ9;J3KNQ6;Q53FM1;Q86VK4 AA652386;ABBA01030740;ABBA01030741;ABBA01030742;AC005480;AC005520;AK223261;AK293350;AK298307;AK298520;AK299138;AK301382;AK303834;AK304609;AK309957;AK310031;AK315206;AMYH01005849;BC000330;BC004357;BC050683;CH471061;DC379519;NM_001242924;NM_001242926;NM_001242927;NM_001242928;NM_021188;NR_040251;U90919 AAB51059;AAH50683;ABZ92368;BAD96981;BAG37643;BAG56866;BAG60561;BAG60724;BAG61190;BAG62922;BAG64780;BAG65394;EAW81136;EAW81137;EAW81138;EAW81139;EAW81140;EAW81141;EAW81142;EAW81143;NP_001229853;NP_001229855;NP_001229856;NP_001229857;NP_067011;Q86VK4 Hs.270869 1661352;1740691;2133244;2133246;2154839;5022651 A002U02;A006H11;D11S2921;D14S1179;D14S705E;G20802 APA-1;APA1 OTTHUMP00000245595;OTTHUMP00000245597;OTTHUMP00000245603;OTTHUMP00000245605;OTTHUMP00000245609;another partner for ARF 1;clones 23667 and 23775 zinc finger protein;zinc finger protein 410;zinc finger protein APA-1 protein-coding ENSG00000119725 20144 18339 VALIDATED 1350513 ZNF415 zinc finger protein 415 19 19 19 q13.42 50658663 50683384 - 58302944 58327957 - 53611132 53636173 - 1580863;6480464 17055453;16344560;14702039;12477932;9110174;8619474;18029348;8889549;22505724 55786 G8JLJ5;M0QX59;M0QXZ4;M0QZ38;M0QZA6;M0R0D9;M0R0R1;M0R191;M0R1N1;M0R2I1;M0R2T6;M0R358;Q09FC8 AA125787;ABBA01068222;ABBA01068223;ABBA01068224;AC010328;AF038179;AK002053;AK095504;AL534796;AMYH01009957;AY283600;BC063880;BC069668;CH471135;DA075573;DA367299;DA518713;DA692431;DB285275;DQ925695;DQ925696;DQ925697;DQ925698;NM_001136038;NM_001164309;NM_018355;NR_028343;R40095 AAH63880;AAH69668;AAP35086;ABI51309;ABI51310;ABI51311;ABI51312;ABZ92349;BAA92059;BAG53073;EAW72115;EAW72116;EAW72117;EAW72118;NP_001129510;NP_001157781;NP_060825;Q09FC8 Hs.147765 2144961;2145397;2163778;2163780 A006J12;D19S679E;G20866;SHGC-32227 FLJ11191 zinc finger protein 415 protein-coding ENSG00000170954 20636 18340 VALIDATED 1349491 ZNF424 zinc finger protein 424 347683 20689 1346172 ZNF416 zinc finger protein 416 19 19 19 q13.4 55126512 55133821 - 62774746 62782055 - 58082934 58090243 - 6480464 15489334;14702039;12477932 55659 Q9BWM5 ABBA01020806;AC003682;AK000564;AMYH01010028;BC000130;CH471135;NM_017879 AAC24607;AAH00130;ABZ92347;BAA91257;EAW72514;EAW72515;NP_060349;Q9BWM5 Hs.247711 FLJ20557 zinc finger protein 416 protein-coding ENSG00000083817 20645 07926 PROVISIONAL 1344195 ZNF417 zinc finger protein 417 19 19 19 q13.43 55460622 55471458 - 63108954 63119790 - 58417142 58427978 - 6480464 16189514;15489334;15342556;12477932 147687 B4DEU1;M0QXH9;M0R0M6;M0R0V5;M0R178;M0R230;M0R267;Q8TAU3 ABBA01020793;ABBA01020794;AC010326;AK293789;AMYH01010030;AMYH01010031;BC025783;BC103757;BP358797;CH471135;NM_152475 AAH25783;BAG57202;EAW72541;NP_689688;Q8TAU3 Hs.567710 2182278;5014003;5016596;5037552;5109281;5120437 D17S1136;D19S1070;D1S1425;D8S2279;GDB:315881;GDB:631802 MGC34079 zinc finger protein 417 protein-coding 20646 18341 VALIDATED 1343141 ZNF427 zinc finger protein 427 347692 20752 1353630 ZNF418 zinc finger protein 418 19 19 19 q13.43 55476733 55490220 - 63125064 63138552 - 58433252 58446740 - 1580863;6480464 18084723;15489334;14702039;12477932;11853319;20936779;21906983 147686 J3KQR4;M0QX21;M0QX82;M0QXB3;M0QYW9;M0R1R2;Q8TF45 AB075836;ABBA01020790;ABBA01020791;AC010326;AK056113;AK293723;AK304632;AMYH01010031;AY695825;BC112244;BC113707;CH471135;NM_133460 AAI12245;AAI13708;AAU05132;ADR83116;ADR83237;BAB71096;BAB85542;BAH11579;BAH14229;EAW72542;NP_597717;Q8TF45 Hs.660728 1683223;2131346;5121442 L18443;RH46260;RH98684 FLJ31551;KIAA1956;MGC138449 zinc finger protein 418 protein-coding ENSG00000196724 20647 11714 PROVISIONAL 1603271 ZNF428 zinc finger protein 428 19 19 19 q13.31 40913857 40926508 - 48803216 48815846 - 44111376 44124014 - 6480464 15146197;12477932;19759913;22990118 126299 I6L9C8;M0QXZ5;Q96B54 AA215292;ABBA01040863;AC005525;AC006276;AI569354;AMYH01009840;AY257197;BC015950;BC045799;BE901751;BG121932;CH471126;CN355560;NM_182498 AAC99795;AAH15950;AAH45799;AAP87382;ACE87310;EAW57209;EAW57210;NP_872304;Q96B54 Hs.99093 1689171;2130803;2130805 RH47366;RH92219;SHGC-34531 C19orf37;MGC51082;Zfp428 enzyme-like protein PIT13;zinc finger protein 428 protein-coding ENSG00000131116 20804 14671 VALIDATED 1344492 ZNF423 zinc finger protein 423 The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012] 16 16 16 q12 34037933 34374016 - 48082022 48418419 - 49524521 49860918 - 6480464 10660046;19345331;18519826;14702039;14623329;12477932;12136093;9872452;9151733;7829101;22863007;15203218;20359360;16713569;18821565;20017333;20379614;15146197;8889548;14630787;23382691 23090 B3KNG7;F5H7S1;H3BT80;Q2M1K9 AB018303;ABBA01000890;ABBA01000891;AC007339;AC007603;AC007607;AC007861;AC027348;AF221712;AK027479;AK304829;AK309835;AK314742;AMYH01007654;AW022965;BC112315;BC112317;BU733621;CD626621;CH471092;CN396210;NG_032972;NM_001271620;NM_015069 AAF28354;AAI12316;AAI12318;ADR83438;BAA34480;BAG51329;BAH14263;EAW82735;NP_001258549;NP_055884;Q2M1K9 Hs.530930;Hs.744482 1336330;1341044;1341812;1664593;1670634;1685345;1729529;1738541;1738635;1738767;1738835;1756345;1761117;1762739;1764573;1768789;2110091;2179026;7184919 D16S2614;D16S2715;D16S2768;D16S2851;D16S2889;D16S290;D16S3080;D16S3237;D16S411;D16S517;RH65128;RH66276;SHGC-143325;SHGC-145121;SHGC-146527;SHGC-148166;SHGC-60816;ZNF423_9303 Ebfaz;JBTS19;KIAA0760;MGC138520;MGC138522;NPHP14;OAZ;Roaz;ZFP423;Zfp104 OLF-1/EBF associated zinc finger;Smad- and Olf-interacting zinc finger protein;early B-cell factor associated zinc finger protein;hOAZ;olf1/EBF-associated zinc finger protein;zinc finger protein 423 APPROVED protein-coding ENSG00000102935 16762 05189 604557;614844 REVIEWED 1606140 ZNF425 zinc finger protein 425 7 7 7 q36.1 143470255 143492616 - 148430809 148454311 - 148799876 148823438 - 6480464 14702039;12690205;21266108;12477932 155054 C9JNW7;Q6IV72 AACC02000041;ABBA01033618;ABBA01033619;ABBA01033620;ABBA01033621;AC073422;AK056498;AMYH01018117;AY621067;BC125189;CH471146;NM_001001661 AAI25190;AAT40438;BAG51733;EAL24427;EAW80061;NP_001001661;Q6IV72 Hs.31743 1697504;1703204 RH102254;SGC32501 MGC150568 OTTHUMP00000213766;OTTHUMP00000213767;zinc finger protein 425 protein-coding ENSG00000204947 20690 11715 VALIDATED 1349572 ZNF429 zinc finger protein 429 19 19 19 p13.1 21523167 21555810 + 21480277 21512919 + 21688437 21721079 + 6480464 14702039;7865130;19207018;22505724 353088 M0QYC4;M0QZ47;Q86V71 ABBA01051378;ABBA01051379;ABBA01051380;ABBA01051381;AC010615;AF325191;AK057495;AK308708;AMYH01009634;AY269786;CH471106;NM_001001415 AAI56456;AAI72531;AAK01422;AAP30884;EAW84901;NP_001001415;Q86V71 Hs.572567;Hs.709598 1783850;2150708;5015619;5021872;5037552 D11S3114;D19S1140;D8S2279;SHGC-79392;sY3084 zinc finger protein 429 protein-coding ENSG00000197013 20817 18342 PROVISIONAL 1602863 ZNF419 zinc finger protein 419 19 19 19 q13.43 55042783 55049752 + 62690891 62697860 + 57999079 58006048 + 6480464 18029348;16344560;15489334;15342556;14702039;12477932;20379614;21890473 79744 A6NNZ3;E5RFR6;E5RGL3;E5RH62;E5RHS2;E5RHW2;E5RHZ9;E5RI89;E5RIA3;E5RJT6;E5RKA4;Q9H5P0 AB209371;ABBA01020807;AC003005;AK026886;AK302135;AK304569;AK307802;AK309427;AK316156;AK316297;AMYH01010028;BC008297;BC024259;BP336834;CH471135;DB004191;DC315347;DC392630;DC407547;DC425209;NM_001098491;NM_001098492;NM_001098493;NM_001098494;NM_001098495;NM_001098496;NM_024691 AAH08297;AAH24259;ADZ16070;BAB15582;BAD92608;BAG63509;BAG65360;BAH14527;BAH14668;EAW72504;EAW72505;EAW72506;NP_001091961;NP_001091962;NP_001091963;NP_001091964;NP_001091965;NP_001091966;NP_078967;Q96HQ0 Hs.744339 1677396;5015861;5020274;5022578;7185938 D10S16;D1S1423;L18441;RH98515 FLJ23233;ZNF419A OTTHUMP00000035141;OTTHUMP00000226564;OTTHUMP00000226566;OTTHUMP00000226567;OTTHUMP00000226568;OTTHUMP00000226569;OTTHUMP00000226570;OTTHUMP00000226571;OTTHUMP00000226584;OTTHUMP00000226585;OTTHUMP00000226608;zinc finger protein 419;zinc finger protein 419A protein-coding ENSG00000105136 20648 08665 VALIDATED 1349955 ZNF420 zinc finger protein 420 19 19 19 q13.12 34353626 34404901 + 42261222 42312502 + 37569382 37620662 + 6480464 19377469;15489334;14702039;12477932;22334068;19629643;20713054;22505724 147923 K7EJW2;K7ELF6;K7EPG0;K7EQC9;K7ERS3;K7ESJ1;Q8TAQ5;Q96ML5 ABBA01016186;AC010632;AC012309;AK056695;AK056753;AK315728;AMYH01009754;BC026210;NM_144689 AAH26210;BAB71272;BAG38083;NP_653290;Q8TAQ5 Hs.444992 1698912;5094090 G34967;RH103025 APAK;FLJ32191 ATM and p53-associated KZNF protein;OTTHUMP00000045843;OTTHUMP00000045844;zinc finger protein 420 protein-coding ENSG00000197050 20649 08122 PROVISIONAL 1318534 ZNF426 zinc finger protein 426 19 19 19 p13.2 9534129 9544758 - 9499667 9510303 - 9638667 9649303 - 1580863;6480464 16189514;15489334;14702039;12477932;11711586;17409159;18216089;19592062;21890473;19322201;22505724 79088 K7EME3;K7ER43;Q9BUY5 AB209837;ABBA01029971;AC008567;AK095759;AMYH01009461;BC001791;CH471106;NM_024106 AAH01791;ABM83450;ABM86662;BAD93074;BAG53124;EAW84038;EAW84039;EAW84040;NP_077011;Q9BUY5 Hs.594011 MGC2663 zinc finger protein 426 protein-coding ENSG00000130818 20725 15787 PROVISIONAL 1345946 ZNF433 zinc finger protein 433 19 19 19 p13.2 12019893 12040885 - 11986532 12007525 - 12125532 12146525 - 1580863 14702039;12477932;20598377;22505724 163059 C9JQA6;C9JUV2;F8VP42;F8VTV7;F8VU36;F8VXJ9;F8W0C9;F8W652;Q8N7K0 ABBA01029815;AC008770;AC022415;AK098300;AMYH01009488;BC047412;CH471106;NM_001080411 AAH47412;ABZ92118;BAC05279;EAW84253;EAW84254;EAW84255;EAW84256;NP_001073880;Q8N7K0 Hs.667776 5016781 SHGC-67307 FLJ40981 OTTHUMP00000209866;OTTHUMP00000209867;OTTHUMP00000240911;OTTHUMP00000240912;OTTHUMP00000240913;OTTHUMP00000240915;OTTHUMP00000240916;OTTHUMP00000240917;zinc finger protein 433 protein-coding ENSG00000197647 20811 15790 PROVISIONAL 1353435 ZNF430 zinc finger protein 430 19 19 19 p12 21038347 21077808 + 20995337 21033493 + 21203426 21242852 + 1580863;6480464 14702039;12477932;16344560;21890473;22505724 80264 A8K360;M0QXG3;M0QYF1;M0R0L5;M0R392;Q2NKJ9;Q9H8G1 ABBA01051364;AC008739;AC012627;AK023721;AK290475;AL832422;AMYH01009629;AMYH01009630;AY269787;BC111776;CH471106;DB255551;NM_001172671;NM_025189 AAI11777;AAP30885;BAB14656;BAF83164;CAH10650;EAW84884;NP_001166142;NP_079465;Q9H8G1 Hs.729202 2220430;2220626;5014023;5015961;5016865;5022578;5037552;5492395 D13S1553;D15S1477;D1S1423;D8S2279;RH39204;UniSTS:480893;UniSTS:481985;UniSTS:486333 DKFZp762K012;FLJ13659;MGC133232 zinc finger protein 430 protein-coding ENSG00000118620 20808 15788 VALIDATED 1350152 ZNF432 zinc finger protein 432 19 19 19 q13.41 49586235 49601631 - 57228489 57243885 - 52536677 52552073 - 1580863;6480464 16777052;15489334;12477932;9872452 9668 M0QZ71;M0R0E2;M0R0H8;M0R258;O94892 AB018341;ABBA01068262;AC011468;AK292827;AMYH01009954;BC002858;CH471135;NM_014650 AAH02858;ABZ92278;BAA34518;BAF85516;EAW72060;EAW72062;NP_055465;O94892 Hs.655934 1338022;2115327;2120770;5016596 D19S206;GDB:631802;SHGC-30985;WI-11509 zinc finger protein 432 protein-coding ENSG00000256087 20810 11716 PROVISIONAL 1605269 ZNF431 zinc finger protein 431 19 19 19 p12 21159806 21203745 + 21116728 21160645 + 21324840 21368805 + 6480464 15489334;12477932;11853319;21177534;21900206;15576338;22505724 170959 M0QXY3;M0QZG4;M0QZN7;M0R1H8;Q8TF32 AB075849;ABBA01051369;ABBA01051370;AC010620;AK293072;AK308127;AMYH01009630;AMYH01009631;BC040506;BX647597;CH471106;NM_133473 AAH40506;BAB85555;BAF85761;EAW84888;EAW84889;EAW84890;NP_597730;Q8TF32 Hs.687547 2164799;2220430;2220626;5015861;5037552;5492395;7185938 D10S16;D8S2279;SHGC-53117;UniSTS:480893;UniSTS:481985;UniSTS:486333 DKFZp313E0830;KIAA1969 zinc finger protein 431 protein-coding ENSG00000196705 20809 15789 VALIDATED 1349254 ZNF43 zinc finger protein 43 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008] 19 19 19 p13.1-p12 21819896 21851121 - 21779592 21810810 - 21987751 22034870 - 1580863;6480464 1711675;11256614;17178891;16381901;15489336;15489334;14702039;12477932;11076863;8467795;2288909;2023909;2014798;16344560;22505724 7594 M0QXI2;M0QYJ6;M0R0T7;M0R3D5;P17038 ABBA01051394;ABBA01051395;ABBA01051396;ABBA01051397;AC010617;AC092364;AK022905;AK291353;AMYH01009637;AMYH01009638;AMYH01009639;BC006528;BT009756;BU786847;BX471947;CH471106;CR933640;DA784080;DB158705;DB446440;DR002502;M61869;NM_001256648;NM_001256649;NM_001256650;NM_001256651;NM_001256653;NM_001256654;NM_003423;X52358;X59244 AAA58674;AAH06528;AAP88758;BAF84042;CAA36584;CAA41932;CAI45941;CAL37453;CAL37522;EAW84908;EAW84909;NP_001243577;NP_001243578;NP_001243579;NP_001243580;NP_001243582;NP_001243583;NP_003414;P17038 Hs.534365 2220430;5022200;5022651;5037552 D11S2921;D8S2279;L18426;UniSTS:481985 DKFZp686L1854;HTF6;KOX27;ZNF39L1 OTTHUMP00000158679;zinc finger protein 39;zinc finger protein 39-like 1 (KOX 27);zinc finger protein 43;zinc finger protein 43 (htf6);zinc finger protein HTF6;zinc finger protein KOX27;zinc protein HTF6 APPROVED protein-coding ENSG00000198521 13109 04917 603972 VALIDATED 1321577 ZNF436 zinc finger protein 436 1 1 1 p36 22015593 22026011 - 23558528 23568944 - 23685941 23696357 - 1580863;6480464 17089209;16710414;15489334;14702039;12477932;11214970;1946370;1505991;20211142;18029348 80818 Q5TEG9;Q9C0F3 AB051497;ABBA01059870;AK092364;AK308173;AL109936;AL834485;AMYH01000359;BC056400;CH471134;M88359;NM_001077195;NM_030634 AAA61317;AAH56400;ABZ92065;BAB21801;BAC03871;CAD39143;EAW95043;EAW95044;EAW95045;NP_001070663;NP_085137;Q9C0F3 Hs.293798 1680607;1771160;1772477;2114861;2118560;2144624;5092870 A009B20;AL009338;D1S3597;G32382;RH80588;SHGC-74359;SHGC-74366 KIAA1710;ZNF;Zfp46 DNA-binding protein;OTTHUMP00000003264;OTTHUMP00000003265;OTTHUMP00000003266;zinc finger protein 436 protein-coding ENSG00000125945 20814 15793 611703 VALIDATED 1353255 ZNF442 zinc finger protein 442 19 19 19 p13.2 12354010 12370301 - 12321185 12337475 - 12460185 12476475 - 1580863;6480464 16344560;14702039;22505724 79973 B4DJ48;C9JC15;Q9H7R0 ABBA01029799;ABBA01029800;AC008758;AK024418;AK295923;AMYH01009490;CH471106;DA151257;NM_030824 BAB14916;BAG58710;EAW84270;NP_110451;Q9H7R0 Hs.253193 FLJ14356 OTTHUMP00000209849;zinc finger protein 442 protein-coding ENSG00000198342 20877 15795 VALIDATED 1603538 ZNF438 zinc finger protein 438 10 10 10 p11.23 30898885 31086180 - 31173569 31313361 - 31133563 31320866 - 6480464 21833088;17669267;16344560;15489334;15164054;14702039;12477932;16385451;20379614 220929 Q5T427;Q7Z4V0 ABBA01033408;ABBA01033409;ABBA01033410;AF428258;AF440405;AI703004;AK057323;AK131357;AK292730;AK294253;AL359532;AL359546;AL591707;AL596113;AL833056;AMYH01002218;AMYH01002219;BC101622;BC104669;BC104757;BC143462;BC143464;CH471072;DA402463;DA479799;DA513699;DQ356011;DQ356012;NM_001143766;NM_001143767;NM_001143768;NM_001143769;NM_001143770;NM_001143771;NM_182755;NR_026560 AAI01623;AAI04758;AAP97298;AAP97319;ABC86954;ABC86955;BAD18510;BAF85419;BAG51902;BAG57549;CAH56317;EAW85996;EAW85997;NP_001137238;NP_001137239;NP_001137240;NP_001137241;NP_001137242;NP_001137243;NP_877432;Q7Z4V0 Hs.660642 1681917;1689805;1718469 RH122436;RH92077;RH98850 FLJ32761;MGC126671;RP11-330O11.1;bA330O11.1 OTTHUMP00000019401;OTTHUMP00000019402;OTTHUMP00000179084;zinc finger protein 438 protein-coding ENSG00000183621 21029 11247 VALIDATED 5130797 ZNF444P1 zinc finger protein 444 pseudogene 1 15 15 36045149 36045815 + 59157205 59157871 + 100419866 ABBA01038977;AC090515;AMYH01006681;NG_025387 ZNF864P pseudo 35157 INFERRED 1344370 ZNF44 zinc finger protein 44 19 19 19 p13.2 12276547 12299635 - 12243623 12266714 - 12382623 12405714 - 1580863;6480464 14667819;18029348;17081983;16344560;15146197;12477932;10737800;2288909;1946370;1505991;22505724 51710 E2QRP2;F8W7T7;I6L4V1;M0R160;P15621 AA525756;AB021642;ABBA01029801;AC012618;AF024706;AK297528;AL137602;AMYH01009490;AW795413;BC001868;BC032246;BC136502;BE766488;BX640705;CH471106;CN364680;DA815414;M77173;M88365;M88367;NM_001164276;NM_016264;X16281;X52338 AAA36816;AAA61323;AAA61325;AAB81096;AAI36503;BAA86988;BAG59931;CAA34357;CAA36564;CAE45825;EAW84266;EAW84267;NP_001157748;NP_057348;P15621 Hs.296731;Hs.693933 1659664;2121451;2163282 RH79158;SHGC-74817;STS-X16281 DKFZp434F1811;DKFZp686L21136;GIOT-2;KOX7;ZNF;ZNF504;ZNF55;ZNF58 OTTHUMP00000209860;OTTHUMP00000209861;OTTHUMP00000209862;gonadotropin inducible transcription repressor-2;gonadotropin-inducible ovary transcription repressor 2;gonadotropin-inducible transcription repressor 2;zinc finger protein 44;zinc finger protein 44 (kox 7);zinc finger protein 55;zinc finger protein 58;zinc finger protein KOX7;zinc finger protein ZnFP12 protein-coding ENSG00000197857 13110 01927 194542 VALIDATED 1350882 ZNF441 zinc finger protein 441 19 19 19 p13.2 11772268 11789345 + 11738907 11754301 + 11877815 11894893 + 1580863;6480464 16344560;14702039;12477932;20379614;22505724 126068 J3KQM6;Q8N8Z8 ABBA01029823;AC008543;AK092721;AK095956;AMYH01009488;BC144217;BX649086;CH471106;DB250168;NM_152355 BAC04661;EAW84240;NP_689568;Q8N8Z8 Hs.675132 2218680 ZNF441__4847 FLJ38637 OTTHUMP00000210057;zinc finger protein 441 protein-coding ENSG00000197044 20875 15794 VALIDATED 1346324 ZNF448 zinc finger protein 448 353277 21038 1344221 ZNF439 zinc finger protein 439 19 19 19 p13.2 11871218 11874680 + 11837844 11841306 + 11976844 11980306 + 1580863;6480464 15489334;16189514;14702039;12477932;22505724 90594 C9JMA7;Q8NDP4 ABBA01029822;AC020951;AK027542;AL833935;AMYH01009488;BC032857;CH471106;NM_152262 AAH32857;BAB55187;CAD38790;EAW84245;EAW84246;EAW84247;NP_689475;Q8NDP4 Hs.528731 1645598;1650313;1662203 RH78963;SHGC-37302;STS-N29327 DKFZp571K0837 OTTHUMP00000210063;OTTHUMP00000210064;zinc finger protein 439 protein-coding ENSG00000171291 20873 11717 PROVISIONAL 1347624 ZNF440 zinc finger protein 440 19 19 19 p13.2 11819465 11840384 + 11786107 11807016 + 11925107 11946016 + 1580863;6480464 15489334;14702039;12477932;16189514;16169070;20379614;20936779;20211142;22505724 126070 C9J3D9;C9JG89;C9JV94;K7EJ55;Q8IYI8 ABBA01029823;AC008543;AK092559;AK095252;AMYH01009488;BC016371;BC035760;CH471106;NM_152357 AAH16371;AAH35760;ABZ92094;BAC04510;EAW84243;EAW84244;NP_689570;Q8IYI8 Hs.418192 1338823;1698680;1771496;1773302;2180949;5014051;5015619;5022578;5022651;5037552;5093312;5114613;5117897;5118444 A009L16;D11S2921;D11S3114;D11S3316;D19S906;D1S1423;D8S2278;D8S2279;G32644;GDB:631813;RH102900;RH36261;RH45667;RH78649 FLJ37933 OTTHUMP00000210058;OTTHUMP00000210059;OTTHUMP00000210060;zinc finger protein 440 protein-coding ENSG00000171295 20874 11718 VALIDATED 1345334 ZNF443 zinc finger protein 443 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002] 19 19 19 p13.2 12434353 12445750 - 12401520 12412823 - 12540520 12551926 - 1580863;6480464 9731181;16344560;15489334;14702039;12477932;12215374;16147992;22505724 10224 F8WDY2;Q9Y2A4 AB011414;ABBA01029798;AC008758;AK023025;AK299532;AMYH01009490;BC032753;CH471106;DA778355;NM_005815 AAH32753;ABZ92288;BAA75543;BAG51151;BAG61480;EAW84273;NP_005806;Q9Y2A4 Hs.720755 ZK1 Kruppel-type zinc finger (C2H2);OTTHUMP00000209832;OTTHUMP00000209833;krueppel-type zinc finger protein ZK1;zinc finger protein 443 APPROVED protein-coding ENSG00000180855 20878 09460 606697 VALIDATED 1312520 ZNF444 zinc finger protein 444 This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] 19 19 19 q13.43 53696812 53715972 + 61344368 61364074 + 56652535 56672262 + 6480464 14702039;12477932;11978792;8125298;15489334;19760602 55311 K7EJ91;K7EJH4;K7EK55;K7ELZ3;K7EMV5;K7ESL2;Q8N0Y2 AB052954;AB052955;ABBA01020839;ABBA01020840;ABBA01020841;AC024580;AF074985;AK001999;AK074063;AK097319;AK223408;AL834130;AMYH01010018;AMYH01010019;BC021282;BI823582;CH471135;NM_001253792;NM_018337 AAH21282;BAA92028;BAB84889;BAC02697;BAC02698;BAD97128;CAD38847;EAW72424;EAW72425;EAW72426;EAW72427;EAW72428;EAW72429;EAW72430;NP_001240721;NP_060807;Q8N0Y2 Hs.24545;Hs.741890 2145469;2158806;5037552;5126059 D8S2279;RH35857;STS-R08168;STS-R63307 EZF-2;EZF2;FLJ11137;ZSCAN17 endothelial zinc finger protein 2;zinc finger and SCAN domain-containing protein 17;zinc finger protein 444 APPROVED protein-coding ENSG00000167685 16052 08488 607874 VALIDATED 1351503 ZNF446 zinc finger protein 446 19 19 19 q13.43 56031803 56036605 + 63679607 63684409 + 58987795 58992597 + 6480464 16189514;15936718;14702039;12477932;20211142;21988832;23251661 55663 M0R034;M0R202;Q9NWS9 ABBA01020766;AC012313;AK000633;AK026153;AK055359;AL122108;AL833955;AMYH01010038;AY279351;AY280800;BC017206;CH471135;NM_017908 AAH17206;AAQ16304;AAQ62848;BAA91298;BAB15377;CAB59270;CAD38805;EAW72597;EAW72598;EAW72599;EAW72600;NP_060378;Q9NWS9 Hs.710284 5014051;5037552 D8S2278;D8S2279 FLJ20626;ZKSCAN20;ZSCAN30;ZSCAN52 zinc finger protein 446;zinc finger protein with KRAB and SCAN domains 20 protein-coding ENSG00000083838 21036 07934 PROVISIONAL 1349162 ZNF445 zinc finger protein 445 3 3 3 p21.32 44419283 44457181 - 44456266 44494166 - 44481262 44519162 - 1580863;6480464 16368201;15489334;12477932;7814019;20379614;21139048 353274 P59923 ABBA01024744;ABBA01024745;AC099669;AC134943;AK026891;AK310588;AL832553;AMYH01013120;AY262260;AY279350;AY295873;BC052953;BC101486;BC143439;BX108541;CH471055;L32162;NM_181489 AAA36767;AAI01487;AAI43440;AAP36990;AAP50258;AAQ62847;EAW64708;NP_852466;P59923 Hs.250481 1721495;2106751;2140931;5014051;5016478;5019070;5020740;5037552 D8S2278;D8S2279;G44334;G59601;GDB:434012;L17809;WI-14808;ZNF445__4849 MGC126535;ZKSCAN15;ZNF168;ZSCAN47 OTTHUMP00000164036;zinc finger protein 168;zinc finger protein 445;zinc finger protein with KRAB and SCAN domains 15 protein-coding ENSG00000185219 21018 11719 VALIDATED 1354120 ZNF45 zinc finger protein 45 19 19 19 q13.2 41220299 41242935 - 49108621 49121397 - 44416776 44439411 - 1580863;6480464 9570955;1559709;15489334;15057824;12477932;2288909;9067431;19195718;17082780;21890473;20562864;22505724 7596 K7EPV5;Q02386 ABBA01040872;AC006213;AC035150;AK127739;AMYH01009840;AMYH01009841;BC037575;CH471126;L75847;M67509;NM_003425;X52336 AAA36133;AAA36134;AAB05653;AAF63030;AAH37575;ABZ92440;BAC87108;CAA36562;EAW57235;EAW57236;NP_003416;Q02386 Hs.381285 KOX5;ZNF13 BRC1744;zinc finger protein 13;zinc finger protein 45;zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide);zinc finger protein KOX5 protein-coding ENSG00000124459 13111 03469 194554 VALIDATED 1348166 ZNF449 zinc finger protein 449 This gene encodes a nuclear protein that likely functions as a transcription factor. The protein includes an N-terminal SCAN domain, and seven C2H2-type zinc finger motifs. [provided by RefSeq, May 2010] X X X q26.3 134862712 134881354 + 134306387 134325004 + 134478696 134497338 + 6480464 16636917;16344560;15790807;15772651;15489334;14702039;12477932;22505724 203523 Q6P9G9;Q7Z3P1 ABBA01050058;AK002078;AK074194;AK314344;AL450472;AL832169;AL833109;AL833407;AMYH01023014;AY280801;AY927530;AY927531;BC060768;BC065938;BX537604;CH471107;DA319333;NG_021220;NM_152695 AAH60768;AAH65938;AAQ16305;ABZ92212;ACE86670;ACE87354;BAB85013;BAG36986;CAD38639;CAD97794;EAX11728;NP_689908;Q6P9G9 Hs.28780 1666947 RH36607 FLJ23614;ZSCAN19 OTTHUMP00000024072;zinc finger and SCAN domain-containing protein 19;zinc finger protein 449 APPROVED protein-coding ENSG00000173275 21039 06543 300627 REVIEWED 1601731 ZNF461 zinc finger protein 461 19 19 19 q13.12 33912883 33942323 - 41820123 41849579 - 37128283 37157739 - 6480464 16595694;15489334;15004467;12477932;11579202;14764631 92283 B4DRP8;K7EIW1;K7EJM1;K7EKL0;K7ESQ5;Q8TAF7 AB021641;AB209279;ABBA01016200;AC074138;AK292834;AK299370;AMYH01009750;AY329493;BC028631;BX649031;NM_153257 AAH28631;AAR00226;ABM82111;ABM85293;BAA86987;BAD92516;BAF85523;BAG61360;NP_694989;Q8TAF7 Hs.590972 1693522 SHGC-58581 GIOT-1;GIOT1;MGC33911 gonadotropin inducible transcription repressor 1;gonadotropin-inducible ovary transcription repressor 1;zinc finger protein 461 protein-coding ENSG00000197808 21629 16358 608640 VALIDATED 1316175 ZNF469 zinc finger protein 469 This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008] 16 16 16 q24 73564290 73577602 + 87021380 87034666 + 88493879 88507165 + 1580863;6480464;7240710 23010198;21664999;22814818;18452888;17081983;11347906;20938016;19661234;20485516;20719862;22486320;23291589 84627 H3BS19;Q96JG9 AB058761;ABBA01015833;AC135049;AMYH01007907;NG_012236;NM_001127464 BAB47487;NP_001120936;Q96JG9 Hs.54925 2185818 SHGC-56971 BCS;KIAA1858 zinc finger protein 469 APPROVED protein-coding ENSG00000225614 23216 229200;612078 REVIEWED 1346228 ZNF454 zinc finger protein 454 5 5 5 q35.3 173995675 174020218 + 178300830 178326040 + 178368194 178393218 + 1580863;6480464 15489334;14702039;12477932;16344560;22939629;22505724 285676 Q8N9F8 ABBA01010009;ABBA01010010;AC104117;AK094763;AK292317;AMYH01015947;BC105061;BC112276;CH471165;DA331325;DB167127;NM_001178089;NM_001178090;NM_182594 AAI05062;AAI12277;ABZ92160;BAC04418;BAF85006;EAW53822;EAW53823;EAW53824;NP_001171560;NP_001171561;NP_872400;Q8N9F8 Hs.259441 2106753;2122111 STS-N31572;ZNF454__4850 FLJ37444;MGC138481 OTTHUMP00000161491;OTTHUMP00000224389;zinc finger protein 454 protein-coding ENSG00000178187 21200 15796 VALIDATED 1350118 ZNF467 zinc finger protein 467 7 7 7 q36.1 144130665 144139508 - 149092385 149101228 - 149461452 149470295 - 1580863;6480464 17848547;15489334;12477932;12426389;21123171;22700861 168544 C9JAX3;Q7Z7K2 AACC02000041;ABBA01033637;ABBA01033638;AC004877;AMYH01018124;BC029296;BC038972;BC052625;CH471146;NM_207336 AAH52625;EAW80032;EAW80033;EAW80034;NP_997219;Q7Z7K2 Hs.726477 1776845 RH78842 EZI;Zfp467 OTTHUMP00000212541;OTTHUMP00000212542;zinc finger protein 467;zinc finger protein EZI protein-coding ENSG00000181444 23154 18343 614040 PROVISIONAL 1314152 ZNF451 zinc finger protein 451 6 6 6 p12.1 58617929 58698197 + 57062787 57143057 + 56954808 57035098 + 1580863;6480464 18656483;16189514;15489334;15231748;15146197;14702039;14574404;12477932;11214970;9628581;8125298;7566098;20936779;19394292;20211142;21139048;21693764;21890473;21906983;21963094;11181995;17043677;20360068;21987572;19471022;21252943;8889548;22505724 26036 B4DYS2;D6RAS1;D6RAV4;D6RB93;D6REC5;D6RIA1;E9PH99;Q5VVE8;Q5VVF0;Q96JY2;Q9Y4E5 AA336048;AB011148;AB051489;ABBA01050484;ABBA01050485;AK000983;AK027074;AK027805;AK075174;AK096186;AK225806;AK302577;AL136311;AL450489;AMYH01016369;AMYH01016370;AY055204;BC021712;BC042450;BC058853;BC098382;BM559241;BX648081;CH471081;CK301064;CN314846;NM_001031623;NM_001257273;NM_015555 AAH21712;AAH42450;AAH58853;AAH98382;AAL17975;ACE86936;ACE87624;BAA25502;BAB21793;BAB55382;BAG63834;EAX04471;EAX04472;EAX04473;NP_001026794;NP_001244202;NP_056370;Q9Y4E5 Hs.485628;Hs.705485 1665947;1679137;1693630;1786070;2117855;2170743;5014051;5015404;5015619;5021228;5022578;5037552 A006S36;D11S3114;D1S1423;D8S2278;D8S2279;GDB:312794;L17705;RH66223;RH78440;RH92062;SHGC-155757;SHGC-58545 COASTER;FLJ23421;FLJ53246;FLJ90693;KIAA0576;KIAA1702;MGC26701;dJ417I1.1 OTTHUMP00000016663;OTTHUMP00000218131;OTTHUMP00000218171;coactivator for steroid receptors;zinc finger protein 451 protein-coding ENSG00000112200 21091 10332 VALIDATED 1352850 ZNF462 zinc finger protein 462 9 9 9 q31.2 80129626 80278036 + 108665199 108813628 + 109625378 109773807 + 1580863;6480464 19266077;18978678;18391951;15489334;14702039;12477932;12168954;11347906;17000644;19913121;20546612;20628086;19448620;20080650;20562864;22826440;23667531;19505873;20881960 58499 F5H0Z0;H0Y6H9;H3BLX4;Q63HJ5;Q96JM2 AB058706;ABBA01042801;AK027866;AK127803;AK302007;AL359561;AL512593;AL590362;AMYH01021608;AMYH01021609;AMYH01021610;BC036884;BX648965;CH471105;CR749850;NM_021224 AAH36884;AAI72445;BAB47432;BAC87142;BAG63410;CAB94868;CAH18698;CAH56168;EAW59010;EAW59011;EAW59012;NP_067047;Q96JM2 Hs.370379 1336033;1730393;2151483;2218682 D9S1832;D9S187E;UniSTS:47729;ZNF462__4851 DKFZp686B2325;DKFZp762N2316;FLJ14960;FLJ45904;KIAA1803;RP11-508N12.1;Zfp462 OTTHUMP00000021854;OTTHUMP00000021855;OTTHUMP00000215909;zinc finger protein 462 protein-coding ENSG00000148143 21684 10333 VALIDATED 1343636 ZNF472 zinc finger protein 472 1299608 12748187 386619 23232 1606316 ZNF460 zinc finger protein 460 Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, May 2004] 19 19 19 q13.4 54835142 54848725 + 62483665 62497248 + 57791853 57805436 + 6480464 16344560;15489334;15004467;14702039;12477932;7865130;20562864;20360068;21549307;21890473;22505724 10794 B4DNX9;M0R0J6;Q14592 ABBA01020812;AC005261;AK074582;AK090816;AK292144;AK298106;AMYH01010027;AY329492;BC109018;BC109019;BC118625;DA991801;NM_006635;X78931 AAI09019;AAI09020;AAI18626;AAR00225;BAF84833;BAG60391;CAA55531;NP_006626;Q14592 Hs.99971 2149130;2220040 D19S828;ZNF272__4801 HZF8;ZNF272 zinc finger protein 272;zinc finger protein 460;zinc finger protein HZF8 APPROVED protein-coding ENSG00000197714 21628 06885 604755 VALIDATED 1350030 ZNF48 zinc finger protein 48 p11 1946370;1505991 7599 E9PJ50;E9PQ92;F8W7I7 M88358 AAA61316 1697832;2110825;2121504 G21158;RH102441;ZNF553__4878 protein-coding 13114 1353288 ZNF479 zinc finger protein 479 7 7 7 p11.2 55907895 55927337 - 57191263 57211513 - 57187321 57207571 - 1580863 11410164;22505724 90827 Q96JC4 AC099654;AC122133;AC125231;AF277624;AMYH01017333;CH471214;NM_033273 AAI67802;AAK61307;EAW71754;NP_150376;Q96JC4 Hs.616660 5095530 RH121583 KR19 HKr19;KRAB zinc finger protein KR19;OTTHUMP00000210410;zinc finger protein 479;zinc finger protein Kr19 protein-coding ENSG00000185177 23258 PROVISIONAL 1605315 ZNF468 zinc finger protein 468 19 19 19 q13.41 50391063 50410182 - 58033597 58052714 - 53341785 53360902 - 6480464 16144304;14702039;12477932;21906983;22505724;16344560 90333 M0QYC0;M0QYE7;M0QZR5;M0R171;Q5VIY5 ABBA01068233;AC008813;AK023558;AK025501;AK289841;AK292449;AMYH01009957;AY442330;AY442331;BC008480;BC037409;BC063143;BX501408;CH471135;CR749381;CR936599;CR936695;DA245284;DB234532;NM_001008801;NM_001277120;NM_199132;NR_102299;NR_102300;NR_102301 AAH63143;AAI48555;AAS01603;AAS01604;BAF82530;BAF85138;CAH18233;CAI56747;EAW72099;EAW72100;NP_001008801;NP_001264049;NP_954583;Q5VIY5 Hs.467223 2142676;2142678 A005Y18;G20593 DKFZp781B1474;DKFZp781N07108 zinc finger protein 468;zinc finger protein ZNF468 protein-coding ENSG00000204604 33105 18344 VALIDATED 1350704 ZNF471 zinc finger protein 471 19 19 19 q13.43 54062199 54083259 + 61711024 61732082 + 57019212 57040270 + 737633;1580863;6480464 12477932 16381901;16189514;15489336;15489334;15057824;11230166;11076863;10718198;11256614;22505724 57573 B4DF32;K7EPX1;Q9BX82 AB037817;ABBA01020833;AC004696;AC005498;AF352026;AK291416;AK293908;AL831845;AMYH01010020;BC016830;BC028227;BC125221;BC125222;CH471135;NM_020813 AAC32422;AAI25222;AAI25223;AAK30252;BAA92634;BAF84105;BAG57293;CAD38551;CAL38280;EAW72459;EAW72460;EAW72461;NP_065864;Q9BX82 Hs.710590 1340463;1721283;7188009 D19S210;G59638 ERP1;KIAA1396;MGC150657;MGC150658;Z1971 EZFIT-related protein 1;zinc finger protein 471 protein-coding 23226 15797 VALIDATED 1348732 ZNF480 zinc finger protein 480 19 19 19 q13.41 49849987 49878731 + 57492263 57520987 + 52800426 52829175 + 737633;1580863;6480464 12477932 15489334;15219843;14702039;20379614;18029348;23425335;23455924;22505724 147657 C9IZQ0;F8WEZ9;M0R367;Q7Z2X8;Q8WV37 ABBA01068257;ABBA01068258;AC010320;AK096442;AK096559;AK303271;AL832560;AMYH01009954;AY512662;BC007056;BC018783;BC054018;BC065503;CH471135;NM_144684 AAH07056;AAH18783;AAH54018;AAH65503;AAR97581;ABM82675;ABW03458;BAC04792;BAC04817;BAH13927;CAI46140;EAW72071;NP_653285;Q8WV37 Hs.729317 MGC32104 OTTHUMP00000212229;zinc finger protein 480 protein-coding ENSG00000198464 23305 15799 613910 VALIDATED 1603830 ZNF470 zinc finger protein 470 19 19 19 q13.43 54121878 54137251 + 61770702 61786074 + 57078890 57094262 + 16344560;15302581;15057824;14702039;12477932;18029348;23251661 388566 M0R0Q6;M0R2Y9;Q6ECI4 AA977233;ABBA01020832;AC007228;AK129686;AK130356;AMYH01010020;AY484591;BC136762;BC142627;BC150188;BX641145;CH471135;DA412738;NM_001001668 AAD23607;AAI36763;AAS64219;BAC85218;EAW72466;NP_001001668;Q6ECI4 Hs.204449 1789158;2165564;5022200;5022576 D1S1361;G65720;L18426;STS-AA001125 CZF-1;FLJ26175;FLJ26846 chondrogenesis zinc finger protein 1;zinc finger protein 470 protein-coding ENSG00000197016 22220 13398 VALIDATED 1605144 ZNF487 zinc finger protein 487 10 10 10 q11.21 39936175 39981605 + 43252288 43298636 + 43932574 43978007 + 642819 B1APH4;B2REC8;B7Z7S5;H0Y2R6 ABBA01050004;ABBA01050005;ABBA01050006;ABBA01050007;ABBA01050008;AK302442;AL450326;AMYH01002291;AMYH01002292;NR_026693 B1APH4;BAH13711 Hs.719657 1657467;1707148;2111292;2111300 D10S1177;D10S1183;SHGC-81343;STS-Z40895 KRBO1;ZNF487 APPROVED pseudo 23488 PROVISIONAL 1604223 ZNF483 zinc finger protein 483 9 9 9 q31.3 84786545 84839198 + 113327260 113379945 + 114287447 114340124 + 6480464 14702039;12477932;11853319;20379614;21102462;20562864;20682791;21832049;23449627;22505724 158399 A7MD06;Q5VZN3;Q6P088;Q8TF39 AB075842;ABBA01042729;ABBA01042730;ABBA01042731;AK092811;AK291267;AL135787;AL159168;AMYH01021642;BC020893;BC065738;BC136695;BC136696;BC152427;BC152433;CH471105;NM_001007169;NM_133464 AAH65738;AAI36696;AAI36697;AAI52428;AAI52434;BAB85548;BAC03981;BAF83956;EAW59073;NP_001007170;NP_597721;Q8TF39 Hs.660784 1669167;1693750;2110817;2120614;2131440;5015881;5022200;5022450;5037552 A008V29;D10S275;D8S2279;GDB:335751;L18426;RH16615;SHGC-33630;SHGC-58823;ZNF483__4855 ZKSCAN16;ZSCAN48 OTTHUMP00000021910;OTTHUMP00000021911;zinc finger protein 483;zinc finger protein HIT-10;zinc finger protein with KRAB and SCAN domains 16 protein-coding ENSG00000173258 23384 18345 VALIDATED 1352943 ZNF49 zinc finger protein 49 1505991 7600 13115 1606968 ZNF474 zinc finger protein 474 5 5 5 q23.2 117419660 117443684 + 121493114 121517165 + 121465215 121489266 + 6480464 15489334;14702039;12477932;20972266 133923 D6RCA7;D6RFM9;Q6S9Z5 ABBA01068958;AC010255;AK057483;AK290985;AMYH01015583;AY461732;BC133022;BC133026;CH471086;NM_207317 AAI33023;AAI33027;AAS21253;BAB71507;BAF83674;EAW48892;EAW48893;EAW48894;EAW48895;EAW48896;NP_997200;Q6S9Z5 Hs.729673 FLJ32921 4933409D10Rik;OTTHUMP00000159157;OTTHUMP00000222997;OTTHUMP00000222998;TSZFP;testis-specific zinc finger protein;zinc finger protein 474 protein-coding ENSG00000164185 23245 13411 PROVISIONAL 1352232 ZNF473 zinc finger protein 473 19 19 19 q13.33 47398472 47421294 + 55221024 55243845 + 50529212 50552033 + 6480464 16914750;16189514;15489334;14702039;12975319;12477932;11782445;10574461;16714279;20379614;21906983 25888 F8WEC7;M0QZY7;M0R032;M0R123;M0R2N2;Q8WTR7 AB032967;ABBA01032904;ABBA01032905;AC010624;AC011452;AF454744;AK054671;AK292452;AK302293;AL080143;AMYH01009920;BC018612;BX492803;BX648093;CH471177;NM_001006656;NM_015428 AAH18612;AAL51029;ABZ92317;ADZ15540;BAA86455;BAF85141;BAG63633;CAB45736;CAH56173;EAW52593;EAW52594;NP_001006657;NP_056243;Q8WTR7 Hs.440553 1338109;1679772;1734614;1857492;2107783;2176932 D19S620E;D19S867;RH94122;SGC33829;STS-T97152;ZNF473__4853 HZFP100;ZN473 zfp-100;zinc finger protein 100 homolog;zinc finger protein 473;zinc finger protein ZFP100 protein-coding ENSG00000142528 23239 11721 VALIDATED 1349192 ZNF485 zinc finger protein 485 10 10 10 q11.21 40105491 40116988 + 43421881 43433358 + 44101855 44113352 + 1580863;6480464 15489334;15164054;14702039;12477932;16385451;22505724 220992 B4DSE6;C9JV60;Q8NCK3 ABBA01050012;AK074679;AK299707;AK313328;AL645634;AMYH01002293;BC014161;BX648149;CH471160;CQ783574;NM_145312 AAH14161;BAC11133;BAG36133;BAG61608;CAF86742;EAW86605;EAW86606;NP_660355;Q8NCK3 Hs.147440 1717807 RH121814 OTTHUMP00000019486;OTTHUMP00000019487;OTTHUMP00000211177;Zinc finger protein 93 (Zinc finger protein HTF34);zinc finger protein 485 protein-coding ENSG00000198298 23440 15800 VALIDATED 1350077 ZNF484 zinc finger protein 484 9 9 9 q22.31 66050432 66082102 - 94648172 94680111 - 95607313 95640320 - 15489334;15231748;15164053;14702039;12477932;22589738;16344560;22505724 83744 Q5JVG2 ABBA01018596;AK000772;AK091203;AK292997;AK299274;AK309617;AL136981;AL833202;AMYH01021510;BC112394;BC112396;CH471089;DB281280;DC310695;DC418802;NM_001007101;NM_001261458;NM_001261459;NM_001261460;NM_031486 AAI12395;AAI12397;BAF85686;BAG52305;BAG61294;EAW62836;EAW62837;NP_001007102;NP_001248387;NP_001248388;NP_001248389;NP_113674;Q5JVG2 Hs.668378 BA526D8.4;MGC133033;MGC133034 KRAB box containing C2H2 type zinc finger bA526D8.4;OTTHUMP00000021664;OTTHUMP00000021665;zinc finger protein 484 protein-coding ENSG00000127081 23385 18346 VALIDATED 1346130 ZNF486 zinc finger protein 486 19 19 19 p12 20184216 20215116 + 20139083 20169984 + 20278023 20311299 + 1580863;6480464 15489334;12477932;22505724 90649 M0QXQ0;Q4G180;Q96H40 AB209550;ABBA01051350;ABBA01051351;AC011447;AMYH01009614;BC008936;BC027608;BC117268;CH471106;NM_052852 AAH08936;AAH27608;AAI17269;BAD92787;EAW84874;NP_443084;Q96H40 Hs.590991 1714003;2220430;5016700;5020948;5037552;5493381;7186918 D8S2279;ERV3;G35510;RH119432;RH79802;UniSTS:481985;UniSTS:485891 KRBO2;MGC2396 KRAB box only protein 2;KRAB domain only 2;KRAB domain only protein 2;zinc finger protein 486 protein-coding ENSG00000256229 20807 VALIDATED 1320391 ZNF488 zinc finger protein 488 10 10 10 q11.22 44779013 44797770 + 47975095 47993872 + 48355089 48373866 + 1580863;6480464 16713569;15489334;15164054;14702039;12477932;16385451;17207965 118738 A2AH61;A2AH62;A2AH63;A2AH64;A2AH65;A2AH66;K7EJ82;Q05CE0;Q96MN9 ABBA01000027;AK055018;AK056666;AK091097;AL731561;AMYH01002505;BC026895;BC051323;CH471251;NM_153034 AAH26895;AAH51323;ADQ32096;BAB71246;EAW50658;NP_694579;Q96MN9 Hs.27788 1675481;1685441;1741883 GDB:186446;RH25780;RH78167 FLJ32104 OTTHUMP00000195589;OTTHUMP00000195590;OTTHUMP00000195591;OTTHUMP00000195592;OTTHUMP00000195593;OTTHUMP00000195594;OTTHUMP00000195595;zinc finger protein 488 protein-coding ENSG00000165388 23535 15801 PROVISIONAL 1352998 ZNF492 zinc finger protein 492 19 19 19 p12 22649154 22683895 + 22609079 22642268 + 22817126 22850472 + 1580863;6480464 16714237;12477932;10819331;17567985;22505724 57615 Q9P255 AB040906;ABBA01051413;ABBA01051414;ABBA01051415;AC011467;AC024563;AMYH01009645;BC110575;BP871882;NM_020855 AAI60049;BAA95997;NP_065906;Q9P255 Hs.232108 1750645;1775125;2220430;5015961;5022578;5037552;5492395;7186918 D15S1477;D19S1024;D1S1423;D8S2279;ERV3;SHGC-111956;UniSTS:480893;UniSTS:481985 KIAA1473;MGC129633;MGC148019;ZNF115 zinc finger protein 115 (Y20);zinc finger protein 492 protein-coding ENSG00000229676 23707 VALIDATED 1312150 ZNF496 zinc finger protein 496 1 1 1 q44 220759980 220791668 - 245530245 245561668 - 247463622 247495045 - 737633;1580863;6480464 12477932 16189514;15489334;15169884;14702039;20176155;19394292;20211142;21906983;21972110 84838 Q96IT1 ABBA01031787;AC104335;AK097397;AK098030;AK310669;AMYH01001911;BC007263;BC025794;CH471148;NM_032752 AAH07263;AAH25794;ABM84432;ABM87490;EAW77178;EAW77179;EAW77180;EAW77181;EAW77182;NP_116141;Q96IT1 Hs.654803 1652855;1697862;2158517;2168727 AL009432;AL009511;RH102458;SHGC-76647 MGC15548;NIZP1;ZFP496;ZKSCAN17;ZSCAN49 NSD1 (nuclear receptor binding SET-domain containing 1)-interacting zinc finger protein 1;OTTHUMP00000038613;zinc finger protein 496;zinc finger protein with KRAB and SCAN domains 17 protein-coding ENSG00000162714 23713 15805 613911 PROVISIONAL 1346780 ZNF490 zinc finger protein 490 19 19 19 p13.2 12580709 12611347 - 12547645 12582594 - 12686920 12721623 - 1580863;6480464 15489334;12477932;10574462;20211142;17043677;21254220;22505724 57474 C9JID3;F8WDW6;Q9ULM2 AB033024;ABBA01029788;ABBA01029789;ABBA01029790;AC010422;AMYH01009492;BC038586;CH471106;NM_020714 AAH38586;ABZ92362;BAA86512;EAW84277;NP_065765;Q9ULM2 Hs.655860 1299977;1858169;5014051;5015619;5016478;5022322;5022463;5022651;5024761;5037552;7186418;7186420 D11S2560;D11S2921;D11S3114;D19S221;D3S1673;D8S2278;D8S2279;GDB:434012;RH36905;WI-11288 KIAA1198 OTTHUMP00000209826;zinc finger protein 490 protein-coding 23705 15802 VALIDATED 1349638 ZNF491 zinc finger protein 491 19 19 19 p13.2 11803836 11813754 + 11770391 11780306 + 11909391 11919306 + 1580863;6480464 16344560;15489334;14702039;12477932;8889549;22505724 126069 C9IYV0;Q8N8L2 AA083980;ABBA01029823;AC008543;AK092110;AK096593;AK297479;AMYH01009488;BC101590;BC101592;CH471106;DA776617;NM_152356 AAI01591;AAI01593;BAC03809;BAC04824;BAG59900;EAW84242;NP_689569;Q8N8L2 Hs.631634 5022588;5492507;5492865 D5S1597E;UniSTS:481373;UniSTS:483082 FLJ34791;MGC126639;MGC126641 OTTHUMP00000210068;OTTHUMP00000210069;zinc finger protein 491 protein-coding ENSG00000177599 23706 15803 VALIDATED 1344388 ZNF493 zinc finger protein 493 19 19 19 p12 21414646 21445000 + 21371771 21402137 + 21579921 21610297 + 6480464 16344560;14702039;12477932;22505724 284443 M0QXT4;M0QY95;M0R1U0;Q6ZR52 AB209086;ABBA01051374;ABBA01051375;AC010615;AK092178;AK093823;AK095616;AK127476;AK128494;AMYH01009633;AMYH01009634;BC006408;BC022394;BC112346;BX648842;CH471106;DA804007;NM_001076678;NM_145326;NM_175910 AAH06408;AAI12347;AAI67858;ABZ92091;BAC04591;BAC86997;BAC87465;BAD92323;EAW84898;EAW84899;NP_001070146;NP_663299;NP_787106;Q6ZR52 Hs.656558 1678677;1851640;2220430;2220626;5015861;7185938 D10S16;RH65297;RH69422;UniSTS:481985;UniSTS:486333 FLJ36504 OTTHUMP00000180614;OTTHUMP00000180615;OTTHUMP00000180616;zinc finger protein 493 protein-coding ENSG00000196268 23708 10043;15804 VALIDATED 1323782 ZNF503 zinc finger protein 503 10 10 10 q22.2 70447236 70451147 - 76827915 76831431 - 77157602 77161513 - 737633;1580863;6480464 12477932 14983057;14702039;8125298;11827452;22863883;21139048 84858 Q96F45 ABBA01020253;AC010997;AI701640;AK092897;AK127647;AK225851;AK290311;AMYH01002841;AMYH01002842;AW069047;BC007494;BC011625;BC013011;BC021165;CH471083;NM_032772 AAH07494;AAH11625;AAH13011;AAH21165;ABZ92074;BAC03999;BAF83000;BAG54540;EAW54579;EAW54580;EAW54581;NP_116161;Q96F45 Hs.195710 FLJ45745;MGC2555;NOLZ-1;NOLZ1 OTTHUMP00000019887;zinc finger protein 503 protein-coding ENSG00000165655 23589 15811 613902 VALIDATED 5484046 ZNF503-AS1 ZNF503 antisense RNA 1 10 q22.2 77056141 77121436 + 14702039;15146197;16344560 253264 ABBA01020256;ABBA01020257;ABBA01020258;ABBA01020259;ABBA01020260;AC010997;AK023445;AMYH01002838;AMYH01002839;AMYH01002840;AMYH01002841;CB997793;CN360505;DA832441;NR_038223;NR_038224;NR_038225;NR_038226 Hs.662111 1685516;1855965 RH70331;RH92469 APPROVED miscrna ENSG00000226051 27370 VALIDATED 1353469 ZNF501 zinc finger protein 501 3 3 3 p21.31 44709111 44716562 + 44746128 44753579 + 44771098 44778575 + 737633;1580863 12477932 15489334;14702039;1946370;1505991;15342556;16344560;22505724 115560 Q96CX3 ABBA01024737;AC098649;AK054613;AK297216;AK316574;AMYH01013123;BC013762;BP368765;CH471055;DB086337;M88361;NM_001258280;NM_145044 AAA61319;AAH13762;BAB70773;BAG38163;BAG59699;EAW64720;EAW64721;NP_001245209;NP_659481;Q96CX3 Hs.401045 1660843;1667418;1727979 G31037;G63409;WI-18287 MGC21738;ZNF;ZNF52 OTTHUMP00000164043;zinc finger protein 501;zinc finger protein 52 protein-coding ENSG00000186446 23717 15809 VALIDATED 1343501 ZNF497 zinc finger protein 497 19 19 19 q13.43 55909719 55918113 - 63557537 63565932 - 58865723 58874214 - 6480464 15489334;14702039;12477932;16344560 162968 M0R159;Q6ZNH5 ABBA01020773;AC012313;AF064790;AF085829;AK126727;AK131209;AMYH01010034;BC118983;BC125273;CA438336;CH471135;DA358776;DA705377;NM_001207009;NM_198458 AAF16412;AAI18984;AAI25274;BAC86660;BAD18400;EAW72577;EAW72578;NP_001193938;NP_940860;Q6ZNH5 Hs.743423 1721049;1730311;1771488;2158079 D19S238E;G59506;RH65092;WI-16009 FLJ42722;FLJ44773 zinc finger protein 497;zinc finger-like protein protein-coding ENSG00000174586 23714 15806 VALIDATED 1314930 ZNF500 zinc finger protein 500 16 16 16 p13.3 5009595 5025937 - 4740816 4757167 - 4800815 4817166 - 1580863;6480464 15489334;15146197;12477932;9628581;9110174;8889549;8619474 26048 B4DNN9;K7EIH1;K7EJ94;K7EM64;K7EPZ1;K7ERS9;O60304 AA236649;AB011129;ABBA01026784;AC020663;AF007129;AK291792;AK297993;AMYH01007107;BC004125;BC014054;BC033151;BC121013;BC121014;CH471112;CN314802;NM_021646 AAH04125;AAI21014;AAI21015;BAA25483;BAF84481;BAG60301;EAW85266;NP_067678;O60304 Hs.513316 1677330;1856082;2116915;2218684;5016596;5019779;5022578 A009S41;D1S1423;G32825;GDB:631802;RH64985;SHGC-32342;ZNF500__4861 ZKSCAN18;ZSCAN50 zinc finger protein 500;zinc finger protein with KRAB and SCAN domains 18 protein-coding 23716 18347 VALIDATED 1345526 ZNF510 zinc finger protein 510 9 9 9 q22.33 69959466 69981647 - 98557968 98580149 - 99518147 99540328 - 737633;1580863;6480464 12477932 19030899;15489334;15231748;10231032;21497587 22869 Q5SZP4;Q9Y2H8 AB023189;ABBA01043570;AK292600;AL589843;AMYH01021548;BC036676;BC058022;BC068587;CH471174;NM_014930 AAH36676;AAH58022;AAH68587;ABZ92307;BAA76816;BAF85289;EAW92666;NP_055745;Q9Y2H8 Hs.75264 1687319;1689801;1735920;2125433 D9S1057E;RH92152;RH99193;WI-15085 KIAA0972;MGC33740 OTTHUMP00000021734;OTTHUMP00000021735;zinc finger protein 510 protein-coding ENSG00000081386 29161 18348 PROVISIONAL 1349628 ZNF512 zinc finger protein 512 This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012] 2 2 2 p23 27651321 27691419 + 27659397 27699467 + 27805836 27846082 + 737633;1580863;6480464 12477932 14702039;11347906;20602751;19454010;21386085;21139048;23505323;15342556;17210253;22359512;22586326;23362303 84450 B4DES6;B4E0X7;B7Z9P6;G3XAG1;Q96ME7 AB058708;ABBA01045211;ABBA01045212;ABBA01045213;AC074091;AK057028;AK074460;AK293771;AK294055;AK299818;AK316011;AK316299;AL514772;AL833748;AMYH01010198;AMYH01010199;BC015707;BC043221;BC093041;BF593724;BG720805;BP251717;BX647996;CH471053;NM_001271286;NM_001271287;NM_001271288;NM_001271289;NM_001271318;NM_032434 AAH43221;AAH93041;AAX93199;BAB47434;BAB71348;BAG57187;BAG61687;BAH11661;BAH14382;BAH14670;CAH56258;EAX00562;EAX00563;EAX00564;EAX00565;NP_001258215;NP_001258216;NP_001258217;NP_001258218;NP_001258247;NP_115810;Q96ME7 Hs.529178 1689434;1723527;1749459;1857602;2115764;5122480 RH118581;RH35836;RH80494;SHGC-111186;SHGC-52592;STS-Z41731 FLJ51176;KIAA1805;MGC111046 OTTHUMP00000123423;OTTHUMP00000123424;zinc finger protein 512 APPROVED protein-coding ENSG00000243943 29380 10336 REVIEWED 1343425 ZNF502 zinc finger protein 502 3 3 3 p21.31 44692121 44703310 + 44729142 44740327 + 44754135 44765323 + 1580863 16344560;15489334;14702039;12477932;20211142;22505724 91392 C9JLT3;Q8TBZ5;Q96K08 ABBA01024737;AC098649;AC124045;AK022577;AK027761;AMYH01013123;BC028377;CH471055;DA823790;DA935088;DB264545;NM_001134440;NM_001134441;NM_001134442;NM_033210 AAH28377;ABZ92081;ADZ15503;BAB55352;EAW64718;EAW64719;NP_001127912;NP_001127913;NP_001127914;NP_149987;Q8TBZ5 Hs.224843 1697750;1743103 GDB:252106;RH102398 FLJ12515;FLJ14855 OTTHUMP00000164116;OTTHUMP00000209711;OTTHUMP00000209712;zinc finger protein 502 protein-coding ENSG00000196653 23718 15810 VALIDATED 1344770 ZNF506 zinc finger protein 506 19 19 19 p13.11 19808909 19837948 - 19765643 19793560 - 19903520 19932560 - 6480464 11256614;16344560;14702039;12477932;16412420;22505724 440515 F5H490;K7EIG2;K7EIP5;K7ENQ3;K7ERD0;K7ERD9;Q5JVG8 AB209500;ABBA01051342;ABBA01051343;AC011477;AI559570;AK095575;AK122848;AL136548;AMYH01009610;AMYH01009611;BC018100;BC034920;CA441296;CH471106;DA122515;NM_001099269;NM_001145404 AAH18100;BAD92737;BAG53088;CAB66483;EAW84861;NP_001092739;NP_001138876;Q5JVG8 Hs.351906 1339440;1700116;2220430;5014051;5015621;5015879;5020740;5021872;5024039;5037552;5492395;5493381 D11S3732;D16S325;D1S386;D8S2278;D8S2279;GDB:314949;L17809;RH103671;UniSTS:480893;UniSTS:481985;UniSTS:485891;sY3084 DKFZp761G1812;MGC27136 zinc finger protein 506 protein-coding 23780 VALIDATED 1318442 ZNF511 zinc finger protein 511 10 10 10 q26.3 128390111 128394334 - 134972413 134976656 + 135122423 135126666 + 737633;1580863;6480464 12477932 15489334;15164054;14702039 118472 H7BY64;Q8NB15 ABBA01006209;AK091711;AK292380;AL360181;AMYH01003232;BC015139;BC019897;CH471211;NM_145806 AAH15139;AAH19897;ADZ15695;BAC03729;BAF85069;EAW61330;EAW61331;EAW61332;EAW61333;NP_665805;Q8NB15 Hs.422113 1681592;1776605 RH44474;RH80121 MGC30006 OTTHUMP00000020804;OTTHUMP00000020805;zinc finger protein 511 protein-coding 28445 15812 PROVISIONAL 1345140 ZNF503-AS2 ZNF503 antisense RNA 2 10 10 10 q22.2 70450920 70458374 + 76832118 76838072 + 77161286 77168740 + 6480464 15489334;15164054;14702039;12477932 100131213 A6NEH8;Q9H7I8 ABBA01020253;AC010997;AK024492;AMYH01002842;AW449476;BC029963;BI522594;BJ990170;NR_024421;NR_024422 A6NEH8;BAB15782 Hs.534598 1854089;2123990 RH15733;WI-14960 C10orf41;FLJ00096;NCRNA00245 APPROVED miscrna 23525 PREDICTED 1315962 ZNF507 zinc finger protein 507 19 19 19 q13.11 29530154 29572221 + 37528393 37570413 + 32836514 32878573 + 1580863;6480464 16344560;15302935;12477932;10470851;8889548 22847 B9EGE7;Q8TCN5 AB029007;ABBA01039593;AC007773;AK126703;AK130905;AK292526;AL713775;AMYH01009693;AMYH01009694;BC110332;BC136417;BU681879;BX640881;CK820221;DB165165;NM_001136156;NM_014910 AAI10333;AAI36418;BAA83036;BAF85215;CAD28536;CAE45937;NP_001129628;NP_055725;Q8TCN5 Hs.205392 1646222;1657776;1712056;1712062;1849359 A006T48;G54008;G54011;RH48748;SGC36911 zinc finger protein 507 protein-coding ENSG00000168813 23783 11722 VALIDATED 1321365 ZNF513 zinc finger protein 513 The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] 2 2 2 p23.3 27446768 27450259 - 27453606 27457097 - 27600098 27603611 - 737633;6480464;7240710 12477932 15221005;14702039;8889548;20797688;19913121;20628086;20211142;16344560;20301590 130557 C9JT52;Q8N8E2 AB075875;ABBA01045203;AC074117;AI766724;AK056765;AK096933;AK290690;AL833946;AMYH01010195;BC040650;BC052282;CA312898;CH471053;DB024976;NG_028219;NM_001201459;NM_144631 AAH40650;AAH52282;AAY14845;ABZ92098;BAB71274;BAC04903;BAD38657;BAF83379;CAD38801;EAX00583;NP_001188388;NP_653232;Q8N8E2 Hs.515872 1664351;1678733;1712128;1712164;1728995;2110669;2147203;2158404 D2S2598;G54114;PPM1G_7857;Ppm1g;RH75415;UniSTS:109369;WI-19785;WIAF-1573 FLJ32203;HMFT0656;RP58 OTTHUMP00000123420;OTTHUMP00000200791;zinc finger protein 513 APPROVED protein-coding ENSG00000163795 26498 15813 613598;613617 REVIEWED 1348764 ZNF518A zinc finger protein 518A The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] 10 10 10 q24.1 91630675 91664729 + 97879462 97913507 + 97889472 97923517 + 737633;6480464 12477932 17081983;15489334;15231748;12168954;9205841;20562864;21139048;21890473;21906983 9849 Q6AHZ1 AB002333;ABBA01021831;AC021037;AMYH01002970;AW514026;BC030967;BC109045;BC109046;BE900217;CH471066;CR627437;FO082045;NG_033267;NM_001278524;NM_001278525;NM_001278526;NM_014803 AAH30967;AAI09046;AAI09047;BAA20793;CAH10523;EAW49983;NP_001265453;NP_001265454;NP_001265455;NP_055618;Q6AHZ1 Hs.600823;Hs.651650 1726673;1738985;2110093;2150264 D20S687;G62572;WI-18119;ZNF518_9006 DKFZp781O2147;MGC125707;MGC125710;ZNF518 OTTHUMP00000020169;zinc finger protein 518;zinc finger protein 518A protein-coding 29009 18349 REVIEWED 1343967 ZNF52 zinc finger protein 52 1505991 7602 13118 1606523 ZNF512B zinc finger protein 512B 20 20 20 q13.33 59274689 59287852 - 62058499 62071662 - 62588055 62601218 - 6480464 17081983;15489334;12477932;11780052;10574462;20211142;20639536;21182205;21665992;18029348;15231748;23168171 57473 Q96KM6 AB033022;ABBA01021434;AL118506;AL834525;AMYH01012095;AW453003;BC125128;BC125129;CH471077;NM_020713 AAI25129;AAI25130;BAA86510;CAD39181;EAW75183;NP_065764;Q96KM6 Hs.740578 1681105;2114012 AB056405;RH65337 GM632;KIAA1196;MGC149845;MGC149846 OTTHUMP00000031611;zinc finger protein 512B protein-coding ENSG00000196700 29212 13840 VALIDATED 1343458 ZNF516 zinc finger protein 516 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012] 18 18 18 q23 70889374 71024478 - 72200607 72304045 - 74069637 74207146 - 1580863;6480464 15302935;12477932;9039502;20834067;18029348;16079794;12700765;21903422;23064961;23432519 9658 F5H2K2;H0YH41;Q2YDX2;Q92618 ABBA01015276;ABBA01015277;AC009716;AC018413;AMYH01009105;BC108287;BC113085;BC113086;BC128041;CH471117;D16475;D86975;NG_032949;NM_014643 AAI08288;BAA13211;EAW66578;NP_055458;Q92618 Hs.436973 1654958;1666662;1699936;1710738;1724785;1770172;2124239;2136460;2172055 Bdy31g08;RH103576;RH122599;RH17409;RH25428;RH46110;RH77883;SHGC-53625;SHGC-83997 HsT287 zinc finger protein 516 APPROVED protein-coding ENSG00000101493 28990 615114 REVIEWED 1346699 ZNF517 zinc finger protein 517 8 8 8 q24.3 142201765 142212033 + 145995065 146005333 + 146024261 146034529 + 16344560;14702039;12477932 340385 A0AV05;E9PIL1;G3V191;H0YCN3;Q6ZMY9 ABBA01005195;AF235103;AK096527;AK097278;AK131440;AMYH01019163;BC126161;BC143922;CH471162;DB016003;DB325820;NM_213605 AAI26162;AAI43923;ADR83032;BAD18586;EAW82043;EAW82044;EAW82045;EAW82046;NP_998770;Q6ZMY9 Hs.521942 5016352;5022578;5109281 D1S1423;D1S1425;L30021 OTTHUMP00000228890;OTTHUMP00000228891;OTTHUMP00000228892;OTTHUMP00000228893;zinc finger protein 517 protein-coding ENSG00000197363 27984 15815 VALIDATED 1351738 ZNF524 zinc finger protein 524 19 19 19 q13.42 53152869 53156793 + 60803542 60806316 + 56111730 56114504 + 737633;1580863;6480464 12477932 15489334;16341674 147807 K7EP10;Q96C55 ABBA01020863;AC008735;AMYH01010003;BC007396;BC014666;BC067748;BI756946;BM790568;NM_153219 AAH07396;AAH14666;AAH67748;ABM82630;ABM83149;ABM86345;NP_694951;Q96C55 Hs.440291 MGC23143 zinc finger protein 524 protein-coding ENSG00000171443 28322 15817 VALIDATED 1352204 ZNF519 zinc finger protein 519 18 18 18 p11.21 13958163 14006658 - 14094724 14122429 - 14075989 14132489 - 737633;1580863;6480464 12477932 18987618;15489334;14702039;16344560;20211142;22505724 162655 K7EJG2;K7ERG6;Q8TB69 AB209417;ABBA01074043;AC006557;AK094128;AK096748;AK124851;AMYH01008854;BC010705;BC024227;BC037787;CH471113;DA525188;NM_145287;NR_033354 AAH24227;ABZ92114;BAD92654;EAX01497;EAX01498;EAX01499;EAX01500;NP_660330;Q8TB69 Hs.352635 2110915;7187967 D18S360E FLJ36809;FLJ42861;HsT2362 zinc finger protein 519 protein-coding 30574 15816 VALIDATED 1345310 ZNF525 zinc finger protein 525 19 19 19 q13.42 50910346 50931227 + 58560780 58581655 + 53868968 53889843 + 1580863;6480464 16344560;14702039;11853319;21145461;21906983 170958 E7ENB8;E7EUL5;J3KR51;J3KR62;M0QZA4;Q8N782 AB075859;ABBA01068216;ABBA01068217;AC010467;AC125388;AK097037;AK098804;AMYH01009959;BQ028675;DB221179;NR_003699 BAB85565;BAC05417;Q8N782 Hs.352638 1686576;2114974;5019222;5096939;5107530 DXS8214;RH118661;RH76350;SHGC-37292;STS-N54526 KIAA1979 pseudo ENSG00000203326 29423 VALIDATED 1347182 ZNF514 zinc finger protein 514 2 2 2 q11.1 90164380 90176243 - 95177127 95188990 - 95813400 95825263 - 1580863;6480464 15815621;15489334;14702039;12477932 84874 C9K038;Q96K75 ABBA01003573;AC092835;AK027363;AL832263;AL833754;AMYH01010683;BC068498;BC074900;BC074901;BC110524;BC110525;CH471219;NM_032788 AAH74900;AAH74901;AAI10525;AAI10526;AAX88981;BAB55064;CAH56226;CAI46170;EAX10714;NP_116177;Q96K75 Hs.655109 MGC126229;MGC126230 OTTHUMP00000160937;OTTHUMP00000207355;zinc finger protein 514 protein-coding ENSG00000144026 25894 15814 PROVISIONAL 1604562 ZNF518B zinc finger protein 518B 4 4 4 p16.1 10906290 10923781 - 10050602 10068130 - 10441504 10459032 - 6480464 14702039;12477932;11214970;22939629;21890473;21906983;22505724 85460 D6RDM9;Q9C0D4 AB051516;ABBA01032519;AC110768;AK058072;AK092268;AK122755;AL833306;AMYH01013996;BC040874;BC067880;CD656908;CH471069;NM_053042 BAB21820;BAB71650;EAW92692;NP_444270;Q9C0D4 Hs.455089 1676083;1676532;1677933;1856418 RH92896;RH94209;SHGC-67322;SHGC-67700 KIAA1729 OTTHUMP00000217412;OTTHUMP00000217413;zinc finger protein 518B protein-coding ENSG00000178163 29365 13889 VALIDATED 1350299 ZNF530 zinc finger protein 530 19 19 19 q13.43 55154831 55163214 + 62803065 62811444 + 58111253 58119637 + 737633;6480464 12477932 14702039;10819331;21822266 348327 M0R0Y5;M0R1P0;Q6P9A1 AB040941;ABBA01020805;AC003682;AK096831;AL832740;AMYH01010028;BC060865;CH471135;NM_020880 AAC24609;AAH60865;ABZ92162;BAA96032;BAG53369;EAW72517;NP_065931;Q6P9A1 Hs.97111 KIAA1508 zinc finger protein 530 protein-coding ENSG00000183647 29297 15822 VALIDATED 1604994 ZNF534 zinc finger protein 534 19 19 19 q13.41 49984739 49992765 + 57626485 57634511 + 52934667 52942699 + 22505724 147658 Q1T7F5;Q1T7F6;Q76KX8 AB086839;AB086840;ABBA01068254;AC010332;AMYH01009954;CH471135;HC044871;NM_001143938;NM_001143939 BAD13515;BAD13516;CBH30765;EAW72081;NP_001137410;NP_001137411;Q76KX8 Hs.447583 FLJ25344;KRBO3 KRAB domain only 3;KRAB domain only protein 3;OTTHUMP00000209961;zinc finger protein 534 protein-coding ENSG00000198633 26337 VALIDATED 1323323 ZNF532 zinc finger protein 532 18 18 18 q21.32 53247258 53371100 + 54681041 54804689 + 56530061 56653709 + 737633;1580863;6480464 12477932 14702039;10997877;18029348;20379614;20972266;19322201 55205 B3KXW2;K7EIU3;K7EJM2;K7EKV7;K7EL14;K7ELB7;K7ELQ2;K7EMF9;K7EN67;K7EP49;K7EPI7;K7EQN0;K7EQW7;K7ER18;K7ES47;Q9HCE3 AA953833;AB046849;ABBA01056158;ABBA01056159;ABBA01056160;ABBA01056161;ABBA01056162;AC040963;AC090233;AF295077;AK001559;AK128058;AK298971;AK308188;AK308571;AMYH01009029;AMYH01009030;AMYH01009031;AY039256;BC036366;BC130618;BC130620;BE219488;BF591635;CH471096;NM_018181 AAH36366;AAI30619;AAI30621;AAK72122;BAA91755;BAB13455;BAG54624;BAG61065;EAW63081;EAW63082;EAW63083;EAW63084;NP_060651;Q9HCE3 Hs.529023 1334780;1335782;1710102;1783696 D18S1117;D18S1129;SHGC-153991;SHGC-83720 FLJ10697 OTTHUMP00000163645;zinc finger protein 532 protein-coding ENSG00000074657 30940 11724 VALIDATED 1353871 ZNF539 zinc finger protein 539 399655 BC043147;NM_203282 20909 1350187 ZNF53A zinc finger protein 53a 1505991 7603 13119 1346629 ZNF53B zinc finger protein 53b 1505991 7604 13120 1316488 ZNF521 zinc finger protein 521 18 18 18 q11.2 19457304 19745858 - 20895889 21186114 - 22641888 22932214 - 1580863;6480464 19049973;19342626;17543573;16344560;14702039;14630787;12477932;12393497;11984006;20392215;21593590;19322201;22379998 25925 H7BYU6;J3KSY9;J3KSZ4;J3KT07;J3KTI4;J3QQI2;J3QRW6;Q96K83 ABBA01022592;ABBA01022593;ABBA01022594;AC104961;AC105114;AC110603;AF141339;AJ518106;AK021452;AK027354;AK074046;AK293067;AL117615;AMYH01008895;AMYH01008896;AMYH01008897;BC032869;BC113622;BC113648;BC143727;CA415157;CH471088;DA102816;EF445043;NM_015461 AAG49442;AAH32869;AAI13623;AAI13649;ACA06095;BAB13829;BAB55056;BAB84872;BAF85756;CAB56016;CAD57322;EAX01201;NP_056276;Q96K83 Hs.116935 1684361;1709124;1717119;1734602;1757671;1762033;1775364;2144070;2151944;2184811 D18S1375;D18S949E;G18026;G29231;RH121478;RH80689;SHGC-145950;SHGC-146211;SHGC-85723;STS-N93862 DKFZp564D0764;EHZF;Evi3;MGC142182;MGC142208 LYST-interacting protein 3;early hematopoietic zinc finger;early hematopoietic zinc finger protein;zinc finger protein 521 protein-coding ENSG00000198795 24605 18350 610974 VALIDATED 1347810 ZNF527 zinc finger protein 527 19 19 19 q13.1 34662770 34684672 + 42553899 42575806 + 37862059 37883966 + 1580863;6480464 14702039;12477932;11347906 84503 K7ELI5;K7ENX6;K7ES26;Q0P6G1;Q8NB42 AB058732;ABBA01040624;AC008806;AK091585;AK301135;AMYH01009767;BC014325;CH471126;DC341389;NM_032453 AAH14325;BAB47458;BAC03701;BAG62727;EAW56727;NP_115829;Q8NB42 Hs.590940 1339673;1724795;1728301;1772075;5015861;5015961;5037552;5037554;7185938 D10S16;D15S1477;D19S713;D8S2279;D8S2282;G63432;GATA156F11;RH122604 KIAA1829 zinc finger protein 527 protein-coding 29385 VALIDATED 1602838 ZNF526 zinc finger protein 526 19 19 19 q13.2 39525287 39533148 + 47416332 47424193 + 42724492 42732353 + 6480464 14702039;12477932;11853319;22318606 116115 H9ZYJ3;M0R395;Q8TF50 AB075831;ABBA01040841;AC006486;AK055681;AK122649;AK298895;AL833399;AMYH01009827;BC013013;CH471126;JQ313906;NM_133444 AAH13013;AFH41800;BAB85537;BAG53641;BAG61006;CAH10586;EAW57113;NP_597701;Q8TF50 Hs.137282 1652928;2107785;2168069;5014051;5015619;5020740;5021872;5022576;5037552 D11S3114;D1S1361;D8S2278;D8S2279;L17809;RH78998;SHGC-37475;ZNF526__4868;sY3084 DKFZp762O059;KIAA1951;MGC4267 zinc finger protein 526 protein-coding ENSG00000167625 29415 15818 614387 PROVISIONAL 1351769 ZNF536 zinc finger protein 536 19 19 19 q12 27557080 27742730 + 35555168 35740805 + 30863328 31048965 + 1580863;6480464 17903293;17065439;14621294;12477932;9205841;19398580;22678362;23049088;23251661;22505724 9745 K7EJP8;K7EKT4;K7EQN6;O15090 AB002388;ABBA01039565;ABBA01039566;ABBA01039567;ABBA01039568;ABBA01039569;ABBA01039570;AC011454;AC011504;AMYH01009683;BC132720;BC132722;BC146757;BC150171;NM_014717 AAI32721;AAI32723;AAI46758;AAI50172;BAA20844;NP_055532;O15090 Hs.378901 1673211;2126346;5017652;5094214 AFM324zg9;G54616;WI-22372;ZNF536 KIAA0390 zinc finger protein 536 protein-coding ENSG00000198597 29025 15825 PROVISIONAL 1350395 ZNF528 zinc finger protein 528 19 19 19 q13 49951186 49971724 + 57592933 57613469 + 52901121 52921657 + 15489334;14702039;12477932;11347906;19322201;22505724 84436 C9JLS3;C9K0H2;F8WAL3;J3KQN0;M0QXZ2;M0QZG9;Q3MIS6 AB058730;ABBA01068255;ABBA01068256;AC010332;AK023429;AK056552;AL832630;AL833325;AMYH01009954;BC101712;BC111950;BX640670;CH471135;NM_032423 AAI01713;AAI11951;ABZ92069;BAB47456;BAG51746;CAD89949;EAW72078;EAW72079;NP_115799;Q3MIS6 Hs.662043 5015879;5016478;5037552;5124778 D8S2279;GDB:314949;GDB:434012;RH92897 KIAA1827;MGC126761;MGC138155 OTTHUMP00000209962;OTTHUMP00000209965;zinc finger protein 528 protein-coding ENSG00000167555 29384 15820 VALIDATED 1353081 ZNF529 zinc finger protein 529 19 19 19 q13.13 33819418 33880749 - 41727130 41756030 - 37034517 37096178 - 6480464 16344560;15489334;15342556;14702039;12477932;10997877;17207965;19322201;22505724 57711 K7EKM0;K7EL49;K7ELR0;K7ES80;K7ESA1;Q6P280 AB046835;ABBA01016201;ABBA01016202;ABBA01016203;ABBA01016204;ABBA01016205;AC092295;AK025110;AK091072;AK094618;AL109722;AMYH01009750;BC036578;BC064690;BP279443;BX503547;DA111996;DA503147;N62934;NM_001145649;NM_001145650;NM_020951;NR_027239 AAH64690;ADQ32998;BAB13441;BAB15068;NP_001139121;NP_001139122;NP_066002;Q6P280 Hs.654960 1648844;1655468;1660064;1665783;1707286;1707710;2126074;2163516;2172789;5015404;5015879;5020881;5022200;5492685;5494053 D19S672E;GDB:314949;L17705;L17709;L18426;RH12243;RH12273;RH47400;SHGC-58143;SHGC-79245;SHGC-82069;STS-N46427;UniSTS:480841;UniSTS:482016;UniSTS:77468 KIAA1615 zinc finger protein 529 protein-coding ENSG00000186020 29328 15821 VALIDATED 1603915 ZNF543 zinc finger protein 543 19 19 19 q13.43 54875150 54885849 + 62523689 62533956 + 57831865 57842144 + 12477932;19322201;16344560;22505724;22797925 125919 O14848;Q08ER8 ABBA01020812;AC005261;AF024696;AK131547;AL834534;AMYH01010027;BC101012;BC101013;BC101014;BC101015;CH471135;DA994943;NM_213598 AAB81086;AAI01013;AAI01014;AAI01015;AAI01016;BAD18681;CAD39190;EAW72492;NP_998763;Q08ER8 Hs.202544 5014051;5015619;5022200;5037552 D11S3114;D8S2278;D8S2279;L18426 DKFZp434H055;MGC119382;MGC119384 zinc finger protein 543 protein-coding ENSG00000178229 25281 15829 VALIDATED 1346331 ZNF540 zinc finger protein 540 19 19 19 q13.12 34886421 34905691 + 42734148 42796836 + 38042273 38105080 + 1580863;6480464 18029348;16815308;15489334;14702039;12477932;22505724 163255 K7EK80;K7EQ46;K7ER55;Q8NDQ6 AB074186;ABBA01040630;ABBA01040631;AC022148;AK122597;AK131388;AK290486;AL832100;AL832315;AL832687;AMYH01009768;AMYH01009769;BC017940;BC126478;BC126480;BE464266;BF109653;BX537980;CH471126;NM_001172225;NM_001172226;NM_152606 AAH17940;AAI26479;AAI26481;BAD18539;BAE45743;BAF83175;CAD38611;CAD91161;CAD97942;EAW56739;EAW56740;EAW56741;EAW56742;NP_001165696;NP_001165697;NP_689819;Q8NDQ6 Hs.728927 1651402 WI-14781 DKFZp313K2238;DKFZp547B0714;FLJ16004;Nbla10512 putative protein product of Nbla10512;zinc finger protein 540 protein-coding ENSG00000171817 25331 15827 613903 VALIDATED 1321846 ZNF541 zinc finger protein 541 19 19 19 q13.33 44829652 44864820 - 52715759 52750925 - 48023947 48059113 - 1580863;6480464 15489334;12477932;11230166;8889548;21906983 84215 H7BXG6;M0R167;Q9H0D2 ABBA01041041;ABBA01041042;ABBA01041043;ABBA01041044;ABBA01041045;AC010331;AC016589;AC073548;AK314169;AL136846;AL833862;AMYH01009885;BC101050;BC101051;BC101052;BC101053;BM718437;CH471126;DT932577;NM_001101419;NM_001277075 AAI01051;AAI01052;AAI01053;AAI01054;CAB66780;CAD38720;EAW57499;EAW57500;EAW57501;NP_001094889;NP_001264004;Q9H0D2 Hs.14161 1688712;2150916 RH91552;STS-T77818 DKFZp434I1930;MGC119518;MGC119519;MGC119521 OTTHUMP00000180564;zinc finger protein 541 protein-coding ENSG00000118156 25294 10337 VALIDATED 1349618 ZNF54A zinc finger protein 54a 1505991 7605 13121 1347081 ZNF54B zinc finger protein 54b 1505991 7606 13122 1346734 ZNF55 zinc finger protein 55 19p 1580863 1946370;1505991 7607 Q15927 M88365 AAA61323;Q15927 protein-coding 13123 1354009 ZNF546 zinc finger protein 546 19 19 19 q13.2 37301314 37321882 + 45194869 45215354 + 40502943 40523514 + 737633;1580863;6480464 12477932 16344560;15489334;14702039;1505991;16751776 339327 B3KVL3;M0QXH5;M0QXR6;M0QY24;M0QZB2;M0R292;Q86UE3 ABBA01040738;AC007842;AK122968;AK172809;AK292528;AMYH01009794;BC045649;CH471126;DA217689;NM_178544 AAH45649;BAD18779;BAF85217;BAG53825;EAW56930;EAW56931;NP_848639;Q86UE3 Hs.666807 1690848;1855993;2179434;5014023;5015861;7185938 D10S16;D13S1553;D19S1077;RH47586;RH80197 MGC43537;ZNF49 zinc finger protein 49;zinc finger protein 546 protein-coding ENSG00000187187 28671 11726 VALIDATED 1352644 ZNF542 zinc finger protein 542 19 19 19 q13.43 53922445 53934175 + 61571320 61582709 + 56879468 56891197 + 6480464 15489334;12477932;16344560 147947 Q5EBM4 ABBA01020836;AC006116;AK097128;AK297170;AL833621;AMYH01010019;BC064603;BC089419;BX510277;BX640680;BX647919;CH471135;DA095148;DA311525;DA679733;DA718087;DB051263;NR_003127;NR_024055;NR_024056;NR_024057;NR_033418 BAG53424;BAG59663;CAE45809;EAW72442;EAW72443;EAW72444;Q5EBM4 Hs.467326 5014740;5022651;5109663 D11S2921;D17S610;D7S2067E DKFZp686B2197;DKFZp686I1219 pseudo ENSG00000240225 25393 15828 VALIDATED 1345922 ZNF544 zinc finger protein 544 19 19 19 q13.43 55783994 55818876 + 63431882 63466822 + 58740070 58775010 + 6480464 15489334;12477932;18029348;18821565 27300 J3KQC8;M0QX86;M0QY11;M0QZM7;M0QZY0;M0R0U7;M0R2F0;Q6NX49;Q8IVS5 ABBA01020777;AC020915;AF020591;AF024692;AK226080;AK290297;AK291656;AK296846;AK301650;AK316446;AL833618;AMYH01010033;BC018980;BC042177;BC067271;CB997427;CH471135;NM_014480 AAB81082;AAC01956;AAH42177;AAH67271;BAF82986;BAF84345;BAG59412;BAG63128;BAH14817;EAW72568;EAW72569;NP_055295;Q6NX49 Hs.438994 2110823;5021872;5022651;5108775 D11S2921;D3S1674;ZNF544__4874;sY3084 zinc finger protein 544 protein-coding ENSG00000198131 16759 15830 PROVISIONAL 1347267 ZNF548 zinc finger protein 548 19 19 19 q13.43 54944926 54957627 + 62593030 62604598 + 57901218 57913919 + 737633;6480464 12477932 15489334;14702039;15342556;21890473 147694 M0QX17;M0QXE2;M0QY53;M0QYA3;M0R041;M0R1K1;M0R2J6;M0R354;M0R3F2;Q8NEK5 ABBA01020810;ABBA01020811;ABBA01020812;AC003002;AK057494;AK299069;AMYH01010027;AMYH01010028;AW449330;BC030788;BP244372;CH471135;NM_001172773;NM_152909 AAH30788;BAB71509;BAG61135;EAW72499;NP_001166244;NP_690873;Q8NEK5 Hs.126905 5020946;5022200;5022651;5037552 D11S2921;D8S2279;L17971;L18426 FLJ32932 zinc finger protein 548 protein-coding 26561 15832 VALIDATED 1348729 ZNF551 zinc finger protein 551 19 19 19 q13.43 55236894 55244716 + 62885217 62892991 + 58193337 58201179 + 737633;1580863;6480464 12477932 15489334;15302935;14702039;2288909;21890473 90233 M0R2M4;Q7Z340 ABBA01020805;AC004017;AK091273;AK300465;AK307670;AMYH01010028;BC005868;BX538151;CH471135;DC376440;NM_001270938;NM_138347;NR_073102;X52354 AAH05868;BAC03625;BAG62184;CAA36580;CAD98037;EAW72524;NP_001257867;NP_612356;Q7Z340 Hs.109540 1650958;2178266;2185139;5016781;5020635 D19S675E;D7S3207;RH12298;SHGC-67307;WI-13703 DKFZp686H1038;MGC52307 KOX 23 protein (56 AA);zinc finger protein 551;zinc finger protein KOX23 protein-coding ENSG00000204519 25108 11727 VALIDATED 1344121 ZNF549 zinc finger protein 549 19 19 19 q13.43 55082272 55095710 + 62730505 62743943 + 58038693 58052244 + 737633;6480464 12477932 15489334;14702039;16344560;21890473 256051 M0QXN3;M0R0L6;Q6P9A3 ABBA01020806;AC003682;AK092236;AK094139;AK122749;AK122766;AL833090;AMYH01010028;BC060863;CH471135;DB088874;NM_001199295;NM_153263 AAC24605;AAH60863;ABZ92124;ACE86715;ACE87401;BAC03834;BAG53703;EAW72509;EAW72510;EAW72511;EAW72512;NP_001186224;NP_694995;Q6P9A3 Hs.744289 2142162;2219770;5015619;5015961 D11S3114;D15S1477;SHGC-32532;ZNF549__4875 FLJ34917 zinc finger protein 549 protein-coding ENSG00000121406 26632 15833 VALIDATED 1346032 ZNF550 zinc finger protein 550 19 19 19 q13.43 55101922 55111303 - 62750155 62759537 - 58058343 58067725 - 737633;1580863;6480464 12477932 15592455;15489334;15057824;14702039;8889548 162972 M0QWZ8;M0R337;Q7Z398 ABBA01020806;AC003682;AI114826;AK122867;AK312802;AL833214;AMYH01010028;BC034810;BC053858;BM684850;BX538032;CH471135;CX756948;NM_001039654;NM_001277090;NM_001277091;NM_001277092;NM_001277093 AAC24606;AAH34810;AAH53858;ABZ92116;ACE86701;ACE87385;BAG53768;CAD97977;EAW72513;NP_001034743;NP_001264019;NP_001264020;NP_001264021;NP_001264022;Q7Z398 Hs.180257 1666968;5022578;5024039;5037552 D16S325;D1S1423;D8S2279;SHGC-30341 MGC41917 zinc finger protein 550 protein-coding ENSG00000251369 28643 15834 VALIDATED 1350845 ZNF547 zinc finger protein 547 19 19 19 q13.43 54918600 54934634 + 62566691 62582739 + 57874891 57890927 + 1580863;6480464 15489334;14702039;12477932 284306 M0QX63;M0QYW2;M0QZZ8;Q8IVP9 ABBA01020812;AC003002;AK055662;AK291464;AL832545;AMYH01010027;BC042681;CH471135;NM_173631 AAH42681;ABZ92157;BAB70979;BAF84153;EAW72497;EAW72498;NP_775902;Q8IVP9 Hs.446620 1783802;1858448 RH18335;SHGC-145196 FLJ31100 zinc finger protein 547 protein-coding ENSG00000152433 26432 15831 VALIDATED 1346175 ZNF554 zinc finger protein 554 19 19 19 p13.3 2755172 2772063 + 2770872 2787733 + 2819872 2836733 + 737633;6480464 12477932 21145461;15489334;14702039;10737800;19322201;22505724 115196 B3KNM4;K7EIR8;K7EQV8;Q86TJ5 ABBA01002771;AC006130;AC006538;AK027860;AK092136;AK299752;AMYH01009291;AMYH01009292;BC000113;BC047777;BF772510;CH471139;DC319914;NM_001102651 AAH00113;AAH47777;BAC03814;BAG51386;BAG61642;EAW69361;EAW69362;EAW69363;NP_001096121;Q86TJ5 Hs.307043 5014051;5015961;5016478;5017266;5022200;5022576;5022578;5022651;5024272;5037552 D11S2921;D15S1477;D1S1361;D1S1423;D2S1254;D8S2278;D8S2279;GDB:434012;L18426;L18506 FLJ34817 zinc finger protein 554 protein-coding 26629 15837 VALIDATED 1351619 ZNF552 zinc finger protein 552 19 19 19 q13.43 55361943 55369771 - 63010262 63018093 - 58318450 58326281 - 1580863;6480464 16344560;14702039;12477932;8125298;20356460;20562864;20360068 79818 M0QZ81;M0R2C3;Q9H707 ABBA01020799;AC010645;AK025256;AK097041;AK225219;AK293445;AMYH01010030;BC017460;BC046237;BC062982;BC082767;CH471135;DA345819;NM_024762 AAH46237;AAH62982;AAH82767;BAB15093;BAG53411;BAH11507;EAW72535;NP_079038;Q9H707 Hs.560727 1689380;1776067;1851089;2157552;5024545;5037552;5493003 D1S3695;D8S2279;RH68037;RH77994;RH93566;SHGC-59924;UniSTS:483660 FLJ21603 zinc finger protein 552 protein-coding ENSG00000178935 26135 15835 VALIDATED 1353094 ZNF556 zinc finger protein 556 19 19 19 p13.3 2802646 2813816 + 2818333 2829501 + 2867333 2878501 + 737633;1580863;6480464 12477932 15489334;14702039;20211142;19322201 80032 K7EKA5;Q9HAH1 ABBA01002772;AC006130;AK021699;AK225297;AMYH01009292;BC009374;CH471139;NM_024967 AAH09374;ABZ92063;BAB13878;EAW69357;EAW69358;NP_079243;Q9HAH1 Hs.287433 5015619;5037552 D11S3114;D8S2279 FLJ11637 zinc finger protein 556 protein-coding ENSG00000172000 25669 15839 PROVISIONAL 1350457 ZNF56 zinc finger protein 56 19 19 19 p13.1 19844251 19853618 + 19798898 19809229 + 19938863 19948229 + 1580863 1946370;1505991 7608 Q15929 ABBA01051343;AC011477;AMYH01009611;M88366;NG_023190 AAA61324;Q15929 ZNF742 putative zinc finger protein 56 pseudo 13124 INFERRED 1350400 ZNF555 zinc finger protein 555 19 19 19 p13.3 2776763 2795803 + 2792482 2805036 + 2841433 2860472 + 737633;6480464 12477932 16381901;15489336;15489334;14702039;11230166;11076863;8619474;9110174 148254 K7ENK0;Q8NEP9 ABBA01002772;AC006130;AF052118;AK056659;AK093163;AK123888;AK292954;AL832140;AMYH01009292;BC022022;BX647423;CH471139;NM_001172775;NM_152791 AAH22022;ABZ92112;ACE86840;ACE87527;BAC04082;BAF85643;CAL38742;EAW69360;NP_001166246;NP_690004;Q8NEP9 Hs.47712 5016596;5020948;5024516 D13S1568;G35510;GDB:631802 FLJ41894;MGC26707 zinc finger protein 555 protein-coding ENSG00000186300 28382 15838 VALIDATED 1345414 ZNF557 zinc finger protein 557 19 19 19 p13.2 7006567 7025061 + 7020471 7038979 + 7069471 7087979 + 737633;6480464 12477932 15851553;15489334;15231748;14702039;22505724 79230 Q4G137;Q8N988 ABBA01051481;ABBA01051482;AC010606;AK095524;AK297283;AK315405;AMYH01009389;BC003020;BC031208;BC058040;CD723611;CH471139;NM_001044387;NM_001044388;NM_024341 AAH03020;AAH31208;AAH58040;BAC04567;BAG37797;BAG59754;EAW69048;EAW69049;EAW69050;NP_001037852;NP_001037853;NP_077317;Q8N988 Hs.591380 1646387;2168366;5016700;5022578;5109281 D1S1423;D1S1425;RH47261;RH79802;STS-W15284 FLJ96454;MGC4054 zinc finger protein 557 protein-coding ENSG00000130544 28632 15840 VALIDATED 1343499 ZNF553 zinc finger protein 553 16 p11.2 30314558 30318216 + 1580863;6480464 15489334;14702039;12477932 197407 Q96MX3 AC116348;AK056313;AL832433;BC007393;BC041388;CH471192;NM_152652 AAH07393;AAH41388;ABZ92119;BAB71146;CAH10657;EAW52250;EAW52251;NP_689865;Q96MX3 Hs.513501 DKFZp762K013;FLJ31751;MGC43952 protein-coding 26471 15836 1348018 ZNF558 zinc finger protein 558 19 19 19 p13.2 8803181 8816361 - 8781382 8794565 - 8920382 8933565 - 1580863;6480464 15231747;15489334;14702039;12477932;21163940 148156 B7Z798;Q96NG5 ABBA01014652;AC008734;AC012616;AK055494;AK291265;AK301664;AK307200;AMYH01009456;BC064356;CH471106;NM_144693 AAH64356;ABZ92111;BAB70934;BAF83954;BAH13534;EAW83994;EAW83995;NP_653294;Q96NG5 Hs.659797 1703866;2110827 SHGC-79037;ZNF558__4881 FLJ30932 zinc finger protein 558 protein-coding ENSG00000167785 26422 15841 PROVISIONAL 1344239 ZNF561 zinc finger protein 561 19 19 19 p13.2 9613441 9627367 - 9580131 9592899 - 9718002 9731916 - 737633;1580863;6480464 12477932 15489334;15342556;14702039;19322201 93134 A8KAD9;B4E2Q8;C9IZJ4;C9J7U2;C9JQP3;F2Z3H5;F8W7U5;F8WAU2;F8WBU1;Q8N587 ABBA01029969;AC008759;AK074787;AK122974;AK293004;AK304383;AMYH01009461;BC012144;BC032668;BP230901;CA415776;CA436025;CH471106;NM_152289 AAH12144;AAH32668;ABZ92088;BAF85693;BAG65220;EAW84043;NP_689502;Q8N587 Hs.720081 1339347;2124945;2165520;5021872;5022578 D19S403;D1S1423;RH66058;STS-H99774;sY3084 MGC45408 OTTHUMP00000211390;OTTHUMP00000211396;OTTHUMP00000211431;zinc finger protein 561 protein-coding ENSG00000171469 28684 15843 VALIDATED 1352023 ZNF559 zinc finger protein 559 19 19 19 p13.2 9330373 9349965 + 9295928 9315521 + 9434448 9454521 + 737633;1580863;6480464 12477932 16189514;15489334;14702039;15342556;16344560;8889548;22505724 84527 B3KPL8;B4DP29;K7EK98;K7EKU6;K7EM21;K7EN17;K7EQI4;K7ERK9;Q3LIC1;Q9BR84 AB075488;ABBA01029978;AC011451;AK027700;AK056489;AK092348;AK298169;AK308517;AK309952;AK310020;AK310117;AK310781;AL389937;AL389938;AMYH01009460;BC006436;BC015058;BP337457;BP417021;BU608632;CF597362;CH471106;DA457855;DA509657;DA517887;DA731101;DA743493;DA774704;DB158737;DB288007;NM_001202406;NM_001202407;NM_001202408;NM_001202409;NM_001202410;NM_001202411;NM_001202412;NM_032497 AAH06436;ABM84333;ABM87724;BAE45747;BAG51730;BAG60441;EAW84026;EAW84027;EAW84028;EAW84029;EAW84030;NP_001189335;NP_001189336;NP_001189337;NP_001189338;NP_001189339;NP_001189340;NP_001189341;NP_115886;Q9BR84 Hs.172979;Hs.744296 1855462;1855464 HSC11G032;SHGC-30311 MGC13105;Nbla00121 putative protein product of Nbla00121;zinc finger protein 559 protein-coding ENSG00000188321 28197 18352 VALIDATED 1354483 ZNF562 zinc finger protein 562 19 19 19 p13.2 9654781 9681221 - 9620341 9646734 - 9759330 9785776 - 6480464 15342556;14702039;12477932;11827452;20379614;19322201 54811 B4DZP9;B4E2P7;F5H1B4;K7EIE6;K7ELE4;K7EN01;K7ENE4;K7EQZ2;Q6V9R5 ABBA01029969;AC008759;AI753280;AK000086;AK297446;AK300115;AK303038;AK304370;AMYH01009461;AY346375;BC109062;BP221824;CH471106;DC403290;DC405554;NM_001130031;NM_001130032;NM_017656 AAI09063;AAQ54330;ABZ92342;BAA90935;BAG59872;BAG61910;BAG64161;BAG65209;EAW84044;EAW84045;EAW84046;EAW84047;NP_001123503;NP_001123504;NP_060126;Q6V9R5 Hs.371107 1852508;2130004 RH16536;SHGC-54214 FLJ20079;MGC126160 zinc finger protein 562 protein-coding ENSG00000171466 25950 15844 VALIDATED 5507839 ZNF559-ZNF177 ZNF559-ZNF177 readthrough This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 559 (ZNF559) and zinc finger protein 177 (ZNF177) genes on chromosome 19. Alternative splicing results in multiple transcript variants, which encode the ZNF177 protein due to either leaky scanning by ribosomes, or absence of the ZNF559 start codon. [provided by RefSeq, Jan 2011] 19 p 9434902 9493293 + 11549323;12477932;15489334;20967262;8661005 100529215 Q13360 ABBA01029978;AC011451;AMYH01009460;BC034489;NM_001172650;NM_001202425;U37251 AAB09748;NP_001166121;NP_001189354;Q13360 Hs.728944 1671360;2162836;2220030 SHGC-31653;WI-14794;ZNF177__4969 zinc finger protein 177 protein-coding ENSG00000188629;ENSG00000270011 42964 VALIDATED 1350383 ZNF563 zinc finger protein 563 19 19 19 p13.2 12322117 12338360 - 12289291 12305502 - 12428291 12444534 - 737633;1580863;6480464 12477932 16344560;15489334;14702039;17207965;22505724 147837 M0R1L6;M0R1Q6;Q8TA94 ABBA01029801;AC012618;AK092116;AK313755;AMYH01009490;BC022523;CH471106;DA687547;NM_145276 AAH22523;ADQ31812;BAC03810;BAG36494;EAW84268;EAW84269;NP_660319;Q8TA94 Hs.663510 5022200;5022651;5118802 D11S2921;D11S3665;L18426 FLJ34797 OTTHUMP00000209852;zinc finger protein 563 protein-coding ENSG00000188868 30498 15845 VALIDATED 1354291 ZNF569 zinc finger protein 569 19 19 19 q13.12 34702749 34759034 - 42593899 42650179 - 37902059 37958339 - 737633;6480464 12477932 1505991;16793018;14702039;1946370;16712791;20562864 148266 K7EJ12;K7EKE0;K7ELU1;K7ENQ2;Q17RR6;Q5MCW4 ABBA01040625;ABBA01040626;AC008806;AK056615;AK122846;AK289987;AL833408;AMYH01009767;AY835704;BC032896;BC038737;BC059407;BC117219;CB151734;CH471126;M88363;NM_152484 AAA61321;AAI17220;AAV97944;BAF82676;EAW56728;EAW56729;EAW56730;EAW56731;NP_689697;Q5MCW4 Hs.511848 1662746;1728601;2170587 G63592;RH78974;SHGC-37349 FLJ32053;ZAP1;ZNF DNA-binding protein;zinc finger protein 569 protein-coding ENSG00000196437 24737 15849 613904 VALIDATED 1347483 ZNF560 zinc finger protein 560 19 19 19 p13.2 9472491 9504739 - 9438031 9470279 - 9577031 9609279 - 1580863 16344560;15489334;14702039;12477932;22505724 147741 Q96MR9 ABBA01029974;ABBA01029975;ABBA01029976;AC008567;AC011451;AK056548;AMYH01009461;BC101039;BC101040;BC101041;BC101042;CH471106;DA744260;NM_152476;T41372 AAI01041;AAI01042;AAI01043;ABZ92107;BAB71213;EAW84037;NP_689689;Q96MR9 Hs.631613 FLJ31986;MGC119490;MGC119493 zinc finger protein 560 protein-coding ENSG00000198028 26484 15842 VALIDATED 1349368 ZNF566 zinc finger protein 566 19 19 19 q13.12 33720996 33765440 - 41630418 41672177 - 36936021 36980463 - 737633;1580863;6480464 12477932 15489334;15342556;14702039;20562864;20360068;21549307;21890473;22797925 84924 B4DRR6;C9J2D3;C9J6X1;K7EQC1;Q969W8 ABBA01016205;ABBA01016206;AC092295;AC092296;AK027685;AK074497;AK299393;AK316262;AMYH01009750;BC007064;BC104886;BC104888;BC143658;BP351422;BX649070;DC373988;DC413210;NM_001145343;NM_001145344;NM_001145345;NM_032838 AAH07064;AAI04887;AAI04889;AAI43659;ABZ92076;BAB55296;BAC11023;BAG61378;BAH14633;NP_001138815;NP_001138816;NP_001138817;NP_116227;Q969W8 Hs.533939 1767479;2150897;5037552 D8S2279;RH18261;RH65930 FLJ14779;MGC12515 OTTHUMP00000045831;OTTHUMP00000208411;OTTHUMP00000208412;OTTHUMP00000208413;zinc finger protein 566 protein-coding ENSG00000186017 25919 15847 VALIDATED 1346041 ZNF567 zinc finger protein 567 19 19 19 q13.12 33964887 33996810 + 41872142 41904066 + 37180302 37212226 + 737633;1580863;6480464 12477932 16189514;15489334;14702039;20211142;21890473 163081 F8WEL6;K7EMD5;K7ESK1;Q8N184 ABBA01016198;AC074138;AK093034;AK126691;AK298556;AK303326;AK313647;AMYH01009751;BC033849;BX640706;NM_152603 AAH33849;ABM82260;ABM85443;BAG36403;BAG52638;BAG54361;BAG60751;BAG64392;CAE45826;NP_689816;Q8N184 Hs.412517 1337226 D19S909 MGC45586 zinc finger protein 567 protein-coding ENSG00000189042 28696 11728 PROVISIONAL 1347487 ZNF564 zinc finger protein 564 19 19 19 p13.2 12529968 12556146 - 12497540 12523317 - 12636184 12662356 - 1580863;6480464 16344560;15489334;14702039;12477932;22505724 163050 C9JLM4;F8WD42;M0QZN8;Q8TBZ8 ABBA01029793;AC010422;AK092760;AL834146;AMYH01009492;BC028367;BC065023;BC136728;BC136729;BX647959;DA619098;NM_144976 AAH28367;AAH65023;AAI36729;AAI36730;BAC03967;NP_659413;Q8TBZ8 Hs.655615 1771276;1858169;2178899;5014051;5015619;5016478;5022322;5022463;5022651;5024761;5037552 D11S2560;D11S2921;D11S3114;D3S1673;D8S2278;D8S2279;GDB:434012;RH16545;RH36905;SGC33281;WI-11288 FLJ38281;MGC26914 OTTHUMP00000209855;zinc finger protein 564 protein-coding ENSG00000249709 31106 10338 VALIDATED 1342686 ZNF568 zinc finger protein 568 19 19 19 q13.12 34191526 34226724 + 42099074 42134290 + 37407231 37488834 + 1580863;6480464 16344560;14702039;12477932;20855565;20562864;22505724;23071813 374900 A2VDJ6;C9JLX5;C9JXQ5;C9JZ58;C9K0F2;K7EKY2;K7EL97;K7ELK8;Q3ZCX4;Q96AZ9 ABBA01016187;ABBA01016188;ABBA01016189;ABBA01016190;AC008733;AK093123;AK095559;AK299626;AMYH01009754;BC016334;BC031218;BC041927;BC108696;BC111777;BC131547;BX640681;DA010273;NM_001204835;NM_001204836;NM_001204837;NM_001204838;NM_001204839;NM_198539 AAH16334;AAH31218;AAI31548;BAC04064;BAG61554;CAE45810;NP_001191764;NP_001191765;NP_001191766;NP_001191767;NP_001191768;NP_940941;Q3ZCX4 Hs.404220;Hs.733385 5022578;5024039 D16S325;D1S1423 DKFZp667O0524;DKFZp686B0797;FLJ34820;FLJ35804 OTTHUMP00000207214;OTTHUMP00000207215;OTTHUMP00000207217;zinc finger protein 568 protein-coding ENSG00000198453 25392 15848 VALIDATED 1344264 ZNF565 zinc finger protein 565 19 19 19 q13.12 33388355 33421149 - 41365027 41397826 - 36673187 36705986 - 1580863;6480464 16344560;15489334;14702039;12477932 147929 B3KQ35;K7EL42;K7ESE2;Q8N9K5 AA476586;ABBA01018780;ABBA01018781;ABBA01018782;ABBA01018783;AC008848;AC012617;AK057290;AK094310;AK308212;AMYH01009739;BC068453;DA766324;DB473200;NM_001042474;NM_152477 AAH68453;BAC04328;BAG51897;NP_001035939;NP_689690;Q8N9K5 Hs.596338 2126353 WI-11629 FLJ36991 zinc finger protein 565 protein-coding ENSG00000196357 26726 15846 614275 VALIDATED 1349071 ZNF570 zinc finger protein 570 19 19 19 q13.12 34760677 34776935 + 42651822 42668082 + 37959982 37976242 + 1580863;6480464 14702039;12477932;22505724 148268 B4DMP1;K7EMF5;K7ENX9;K7EP39;K7EP64;K7EQY8;Q96NI8 ABBA01040626;AC008806;AK055353;AK297561;AK308252;AMYH01009767;AMYH01009768;BC130425;BC130433;CH471126;NM_144694 AAI30426;AAI30434;BAB70908;BAG59953;EAW56732;NP_653295;Q96NI8 Hs.350875 FLJ30791 OTTHUMP00000045851;zinc finger protein 570 protein-coding ENSG00000171827 26416 11729 PROVISIONAL 7244571 ZNF571-AS1 ZNF571 antisense RNA 1 19 38039851 38078249 + 12477932 100507433 ABBA01040630;ABBA01040631;AC022148;AMYH01009768;AMYH01009769;BC042488;BC043284;BC044917;BC063448;BC110871;BX647800;NR_038247;NR_038248;NR_038249;NR_038250 Hs.121283 2141161;5020948 G35510;RH12326 miscrna ENSG00000267470 44324 VALIDATED 1343175 ZNF57 zinc finger protein 57 19 19 19 p13.3 2836358 2852615 + 2851964 2869474 + 2900896 2918474 + 6480464 15489334;12477932;1946370;1505991;20356463;22505724 126295 A5HJR3;E5RHE3;G3V131;K7ERB8;Q68EA5 ABBA01002776;ABBA01002777;ABBA01002778;AC119403;AK302165;AK314848;AMYH01009294;BC028974;BX537601;CH471139;EF534355;M88368;NM_173480 AAA61326;AAH28974;ABQ10558;ABZ92096;BAG37365;BAG63532;CAH18455;EAW69355;EAW69356;NP_775751;Q68EA5 Hs.591378 ZNF424 OTTHUMP00000226809;OTTHUMP00000226869;zinc finger protein 424;zinc finger protein 57 protein-coding ENSG00000171970 13125 14034 VALIDATED 1350499 ZNF573 zinc finger protein 573 19 19 19 q13.12 35029744 35070573 - 42921028 42962040 - 38229203 38270230 - 737633;1580863;6480464 12477932 15489334;14702039;15342556;16344560;19322201;22505724 126231 K7EJ45;K7EJY0;K7EL03;K7EM14;K7EM47;K7EQQ2;K7ERS7;Q86YE8 ABBA01040637;ABBA01040638;AC016582;AC093227;AK055483;AK074539;AMYH01009769;AMYH01009770;AMYH01009771;BC015418;BC029468;BC042170;BC051263;BC064962;BG572864;BP274132;CH471126;DA778380;DB121870;NM_001172689;NM_001172690;NM_001172691;NM_001172692;NM_152360 AAH15418;AAH29468;AAH42170;AAH51263;AAH64962;ABZ92095;BAB70929;BAC11047;EAW56751;EAW56752;EAW56753;NP_001166160;NP_001166161;NP_001166162;NP_001166163;NP_689573;Q86YE8 Hs.531262 1721547;2168085;5014039 D22S1584;G59778;WIAF-2206 FLJ30921 zinc finger protein 573 protein-coding ENSG00000189144 26420 15852 VALIDATED 1312810 ZNF575 zinc finger protein 575 19 19 19 q13.31 40839973 40842923 + 48729169 48732130 + 44037340 44040290 + 737633;1580863;6480464 12477932 15489334;14702039;19773279 284346 B3KQ07;M0R087;Q86XF7 ABBA01040862;AC018758;AK057129;AK301820;AMYH01009839;BC043611;CH471126;NM_174945 AAH43611;BAG51869;BAG63266;EAW57198;EAW57199;EAW57200;NP_777605;Q86XF7 Hs.213534 FLJ32567 zinc finger protein 575 protein-coding 27606 15854 VALIDATED 1353037 ZNF576 zinc finger protein 576 19 19 19 q13.31 40903025 40907068 + 48792384 48795996 + 44100544 44104587 + 737633;6480464 12477932 17081983;15489334;15342556;14702039 79177 Q9H609 ABBA01040863;AC006276;AK026353;AMYH01009840;BC002981;BP358040;CH471126;CS072412;NM_001145347;NM_024327 AAH02981;ABZ92055;ADZ15680;BAB15458;CAI93550;EAW57206;EAW57207;EAW57208;NP_001138819;NP_077303;Q9H609 Hs.11110 1677903;1774713;1776381;2125608 D19S1120;RH78438;RH91515;STS-W88767 FLJ22700;FLJ56397;MGC2508 OTTHUMP00000229927;OTTHUMP00000229929;OTTHUMP00000229930;OTTHUMP00000229931;OTTHUMP00000229932;zinc finger protein 576 protein-coding 28357 15855 VALIDATED 1345171 ZNF571 zinc finger protein 571 19 19 19 q13.12 34855837 34886363 - 42746995 42777513 - 38055155 38085673 - 1580863;6480464 16381901;15489336;15489334;14702039;12477932;11256614;11230166;11076863;11042152 51276 K7ELU5;K7ERB9;Q7Z3V5 ABBA01040631;AC022148;AF161544;AK055039;AK131351;AK291413;AMYH01009769;BC040591;BC113870;BC114479;BX537401;CH471126;NM_016536 AAF29031;AAH40591;AAI13871;AAI14480;ABZ92332;BAF84102;CAD97643;CAL37804;EAW56737;EAW56738;NP_057620;Q7Z3V5 Hs.590944 2108649;2110829;2141161;5108186 G34327;RH12326;ZBTB16_8745;ZNF571__4886 FLJ16374;HSPC059;MGC138690 zinc finger protein 571 protein-coding ENSG00000180479 25000 15850 VALIDATED 1353007 ZNF572 zinc finger protein 572 8 8 8 q24.13 122173876 122179968 + 126054733 126060809 + 125985539 125991631 + 1580863;6480464 16381901;16344560;15489336;14702039;12477932;11230166;11076863;11256614 137209 Q7Z3I7 ABBA01037906;AC009908;AK095321;AMYH01019010;BC130515;BC130517;BX537876;CH471060;DB093007;NM_152412 AAI30516;AAI30518;ADR83211;BAC04529;CAD97876;CAL38262;EAW92077;NP_689625;Q7Z3I7 Hs.175350 2166607;2220048;5024543 D1S3690;WI-5950;ZNF572__4887 FLJ38002 OTTHUMP00000228144;zinc finger protein 572 protein-coding ENSG00000180938 26758 15851 VALIDATED 1322875 ZNF574 zinc finger protein 574 19 19 19 q13.2 39379908 39385337 + 47272130 47277559 + 42580290 42585719 + 737633;6480464 12477932 16964243;16344560;15489334;14702039;8125298;21832049;21890473;22505724 64763 M0R133;Q6ZN55;Q71MF7 ABBA01040835;ABBA01040836;AC022515;AF447880;AK025712;AK027895;AK074788;AK131369;AK131418;AK225342;AL137516;AMYH01009824;BC001184;BC071962;CH471126;DA404303;NM_022752 AAH01184;AAH71962;AAQ04655;BAB15225;BAC11210;BAD18520;BAD18565;CAB70782;EAW57093;NP_073589;Q6ZN55 Hs.13323 1665723;2171173 RH11929;SHGC-32127 FLJ22059;FP972 zinc finger protein 574 protein-coding ENSG00000105732 26166 15853 VALIDATED 1318265 ZNF579 zinc finger protein 579 19 19 19 q13.42 53130028 53133351 - 60780703 60784023 - 56088891 56092211 - 1580863;6480464 16964243;15302935;15146197;14702039;21900206;22190034 163033 K7EJF4;Q8NAF0 ABBA01020864;AC008735;AK092772;AMYH01010003;AW003562;BC042926;CH471135;CN340494;CQ859782;CQ859784;CX781546;NM_152600 BAC03972;CAH25941;CAH25942;EAW72390;NP_689813;Q8NAF0 Hs.112529 1686070 RH94058 FLJ35453 zinc finger protein 579 protein-coding ENSG00000218891 26646 11730 VALIDATED 1350365 ZNF577 zinc finger protein 577 19 19 19 q13.41 49408614 49440795 - 57066350 57083009 - 52359056 52391229 - 737633;1580863;6480464 12477932 16344560;15489334;14702039;21424380 84765 C9JEI3;C9JP99;C9JUV0;C9JX31;K7EPC1;K7EPX3;Q9BSK1 ABBA01068262;AC006272;AC011460;AC074141;AK056853;AK093036;AK289479;AK291812;AL832871;AMYH01009954;BC004992;BC030610;BC035367;BU949047;CH471135;DA874803;DB457499;NM_001135590;NM_032679;NR_024181 AAH04992;ABZ92072;BAF82168;BAF84501;EAW72046;EAW72047;EAW72048;EAW72049;NP_001129062;NP_116068;Q9BSK1 Hs.729135 1686384;1696130;1696908;1732151;1789138;2218688 D19S468E;G65705;RH101921;RH79636;SHGC-79067;ZNF577__4889 FLJ32291;MGC4400 OTTHUMP00000211376;OTTHUMP00000211377;OTTHUMP00000211378;OTTHUMP00000211379;OTTHUMP00000211380;zinc finger protein 577 protein-coding ENSG00000161551 28673 15856 VALIDATED 1343314 ZNF581 zinc finger protein 581 19 19 19 q13.42 53197262 53199265 + 60846798 60848801 + 56154986 56156989 + 737633;1580863;6480464 12477932 16189514;15489334;11042152;21832049 51545 K7EM32;Q9P0T4 ABBA01020862;AC008735;AF151023;AK026203;AK315603;AMYH01010004;AMYH01010005;BC001219;BC010097;BC071620;BC071845;CH471135;NM_016535 AAF36109;AAH01219;AAH10097;AAH71620;AAH71845;ABM84519;ABM85847;BAG37973;EAW72400;NP_057619;Q9P0T4 Hs.20768 1683775;2110095;2175952 RH93235;WI-11712;ZNF581_9736 FLJ22550;HSPC189 zinc finger protein 581 protein-coding ENSG00000171425 25017 15858 VALIDATED 1353424 ZNF582 zinc finger protein 582 19 19 19 q13.43 53937627 53947864 - 61586460 61596701 - 56894648 56904889 - 737633;1580863;6480464 12477932 15489334;14702039;22815913 147948 K7EKI7;K7ESE7;Q96NG8 ABBA01020836;AC006116;AK055489;AK299036;AK316028;AMYH01010019;BC011796;BC056238;BC101008;BC101009;BC101010;BC101011;CH471135;NM_144690 AAH11796;AAI01009;AAI01010;AAI01011;AAI01012;ABZ92108;BAB70931;BAG61111;BAH14399;EAW72445;EAW72446;EAW72447;EAW72448;NP_653291;Q96NG8 Hs.244391 2117981 D19S1124 FLJ30927 zinc finger protein 582 protein-coding ENSG00000018869 26421 15859 PROVISIONAL 6893114 ZNF582-AS1 ZNF582 antisense RNA 1 (head to head) 19 q13.43 56905045 56910544 + 12477932 386758 ABBA01020836;AC006116;AMYH01010019;AW160702;BC024249;BC036928;BC040939;NR_037159;NR_037160;NR_037161 Hs.549564 2160502 D15S1168 miscrna ENSG00000267454 25213 VALIDATED 1348200 ZNF584 zinc finger protein 584 19 19 19 q13.43 55964056 55973692 + 63611875 63621506 + 58920063 58929694 + 737633;1580863;6480464 12477932 15489334;14702039;20211142 201514 F6W0P0;M0QZA3;M0R0A3;M0R2W6;M0R3F5;Q8IVC4 ABBA01020767;ABBA01020768;AC012313;AK097218;AK290068;AK298929;AMYH01010037;AMYH01010038;BC017651;BC033149;CH471135;NM_173548 AAH17651;AAH33149;ABZ92122;BAF82757;BAG61033;EAW72587;EAW72588;EAW72589;NP_775819;Q8IVC4 Hs.439551 2144579;5015861;5022425;5022578;5022651;5110221;7185938 5175ht;D10S16;D11S2921;D1S1423;D22S296;WI-17511 FLJ39899 zinc finger protein 584 protein-coding ENSG00000171574 27318 15861 PROVISIONAL 1346407 ZNF578 zinc finger protein 578 19 19 19 q13.41 50006763 50070083 + 57648641 57711943 + 52956829 53020131 + 1580863 14702039;12477932;21890473;23000965;22505724 147660 M0QZV4;Q3MI94;Q96N58 AB091373;AB091374;AB091375;AB091376;ABBA01068250;ABBA01068251;ABBA01068252;ABBA01068253;ABBA01068254;AC010332;AC010506;AC022150;AK055946;AK095562;AK299106;AMYH01009954;AMYH01009955;AMYH01009956;BC103904;BC115704;BX955279;NM_001099694 AAI03905;AAI15705;BAB71051;BAC04574;BAE93189;BAE93190;BAE93191;BAE93192;BAG61163;NP_001093164;Q96N58 Hs.157287 1690594;2173852;5014019;5020635;5024039;5492643;5493073 D16S325;D19S651E;D5S2354;D7S3207;RH39501;UniSTS:481881;UniSTS:484132 FLJ31384 zinc finger protein 578 protein-coding 26449 15857 VALIDATED 1348673 ZNF586 zinc finger protein 586 19 19 19 q13.43 55324549 55335505 + 62972837 62983796 + 58281020 58291984 + 737633;1580863;6480464 12477932 16344560;14702039;15342556;21890473 54807 M0QZ99;M0R166;M0R336;Q9NXT0 AB074270;ABBA01020801;AC003006;AI962754;AK000077;AK095993;AK300419;AK302151;AMYH01010029;BC027922;BC041660;BC051325;BC124558;BP352135;CH471135;DA904413;NM_001077426;NM_001204814;NM_017652 AAH27922;AAI24559;BAA90930;BAG53191;BAG62148;BAG63522;EAW72533;EAW72534;NP_001070894;NP_001191743;NP_060122;Q9NXT0 Hs.625133 FLJ20070 zinc finger protein 586 protein-coding ENSG00000083828 25949 15863 VALIDATED 5144720 ZNF587P1 zinc finger protein 587 pseudogene 1 3 3 31772579 31774271 + 31835971 31837664 + 100419751 ABBA01024952;AC092024;AC107620;AMYH01013057;NG_025682 1714987 RH120830 pseudo 42438 INFERRED 6480280 ZNF587B zinc finger protein 587B 19 58341662 58357606 + 10520746;14702039;16344560 100293516 E7ETH6;F8W6R8;M0QY62;M0R1N2 ABBA01020798;AC010522;AC010645;AK299091;AMYH01010030;CA427231;DB065500;NM_001204818;U71363 AAB16809;BAG61153;E7ETH6;NP_001191747 Hs.658251 1652194;1688384;1696292;1748481;1851089 RH35863;RH68934;RH77994;SHGC-32807;SHGC-83786 FLJ16599;FLJ52732;FLJ52828 zinc finger protein;zinc finger protein 587B protein-coding ENSG00000269343 37142 VALIDATED 1353931 ZNF585B zinc finger protein 585B 19 19 19 q13.12 34456719 34485700 - 42367562 42393293 - 37672481 37701451 - 737633;6480464 12477932 15489334;14702039;16169070;20562864;22939629;23251661 92285 B3KRH5;E9PNT4;E9PQ00;E9PQH3;F2Z3L4;K7EL12;K7EP93;K7EPG8;Q52M93 ABBA01016185;ABBA01016186;AC012309;AK027834;AK090574;AK091586;AK094989;AMYH01009754;AY147015;BC029737;BC051277;BC067088;BC080550;BC093625;BX440867;NM_152279 AAH93625;AAN61169;ABZ92085;BAB55400;BAG52387;BAG52967;NP_689492;Q52M93 Hs.390568 1647416;1847920;2125882;2128915;5015861;5022450;5022651;7185938 D10S16;D10S275;D11S2921;RH17555;RH36079;SGC34287;SHGC-34082 FLJ14928;FLJ33255;SZFP41 OTTHUMP00000232117;OTTHUMP00000232118;zinc finger protein 41-like protein;zinc finger protein 585B protein-coding ENSG00000245680 30948 18354 VALIDATED 1348055 ZNF59 zinc finger protein 59 7550 13127 1315767 ZNF580 zinc finger protein 580 19 19 19 q13.42 53194671 53197112 + 60844204 60846648 + 56152392 56154836 + 6480464 16341674;16189514;15489334;12477932;8889548;20211142;17207965;20382120;21310414;21830064;21599657;21900206 51157 K7EJ53;K7ENY2;K7ERU0;Q9UK33 ABBA01020862;AC008735;AF184939;AK123294;AK314888;AL359054;AMYH01010004;BC017698;BM700178;BM710177;BM793208;BQ477323;BU179609;CH471135;NM_001163423;NM_016202;NM_207115 AAD56549;AAH17698;ADQ31690;BAG37402;CAB94389;EAW72399;NP_001156895;NP_057286;NP_996998;Q9UK33 Hs.631551 1683775 RH93235 LDL induced EC protein;LDL-induced EC protein;zinc finger protein 580 protein-coding ENSG00000213015 29473 18353 VALIDATED 1350167 ZNF583 zinc finger protein 583 19 19 19 q13.43 53958359 53979398 + 61607530 61628212 + 56915383 56936400 + 1580863;6480464 16344560;15489334;15342556;14702039;12477932 147949 F5GZQ5;I3L0C4;Q96ND8 ABBA01020836;AC006116;AF024698;AK055592;AL833236;AMYH01010019;BC111772;BP247825;CH471135;DA407197;DA785623;DA942855;NM_001159860;NM_001159861;NM_152478 AAB81088;AAI11773;ABZ92109;BAB70964;EAW72452;NP_001153332;NP_001153333;NP_689691;Q96ND8 Hs.146854;Hs.743482 2181791;5016478;5022200;5022578;5037552 D1S1423;D8S2279;G18065;GDB:434012;L18426 FLJ31030;MGC133237 OTTHUMP00000239666;OTTHUMP00000239667;OTTHUMP00000239668;OTTHUMP00000239669;zinc finger protein 583;zinc finger protein L3-5 protein-coding ENSG00000198440 26427 15860 VALIDATED 1604726 ZNF585A zinc finger protein 585A 19 19 19 q13.12 34425229 34447853 - 42332830 42355455 - 37640990 37663615 - 6480464 15489334;14702039;12477932;20562864 199704 C9JK40;K7EJK4;K7ELR3;K7EN80;Q6P3V2 ABBA01016186;AC012309;AF086428;AK056389;AK074345;AK123296;AK290660;AMYH01009754;BC026081;BC039557;BC052956;BC063820;BG771823;CA446889;NM_152655;NM_199126 AAH63820;BAB71174;BAB85057;BAF83349;NP_689868;NP_954577;Q6P3V2 Hs.659236;Hs.729172 1697542 RH102277 FLJ23765;FLJ25829;FLJ31827 zinc finger protein 585A protein-coding ENSG00000196967 26305 15862 VALIDATED 1353484 ZNF589 zinc finger protein 589 3 3 3 p21 48233162 48263045 + 48257600 48287484 + 48282596 48312480 + 1580863;6480464 18029348;12477932;10029171 51385 B4DQF9;C9J1J1;C9JGA6;F8VZ09;Q86UQ0 AB209387;ABBA01024652;ABBA01024653;AC104190;AF114816;AF114817;AK298782;AL832831;AMYH01013149;AY258146;BC005859;BC006247;BC008213;BC028160;BC048798;BC062690;CH471055;NM_016089 AAD38879;AAD38880;AAH05859;AAH06247;AAH08213;AAH48798;AAI66625;AAP14679;BAD92624;BAG60921;CAI46129;EAW64855;EAW64856;EAW64857;EAW64858;EAW64859;EAW64860;NP_057173;Q86UQ0 Hs.172602 2116602;2163796 SHGC-33980;SHGC-76947 SZF1 KRAB-zinc finger protein SZF1-1;OTTHUMP00000210748;OTTHUMP00000210749;OTTHUMP00000210750;OTTHUMP00000210751;OTTHUMP00000210752;stem cell zinc finger protein 1;zinc finger protein 589 protein-coding ENSG00000164048 16747 15865 VALIDATED 1320928 ZNF593 zinc finger protein 593 1 1 1 p36.11 24892757 24893733 + 26368975 26369951 + 26496388 26497364 + 737633;1580863;6480464 12477932 9115366;23045392;18287285;16344560;15489334;12429849;16169070;20211142;22939629;21900206;21906983 51042 A9J4F5;O00488 ABBA01034899;AI083892;AK311926;AL391650;AMYH01000396;BC002580;BC019267;CH471059;D45213;DA124660;NM_015871 AAH02580;AAH19267;ABZ92327;BAA20369;BAG34867;EAX07843;NP_056955;O00488 Hs.477273 1691102;2146164;2165278 RH80379;SHGC-74436;WI-20819 ZT86 OTTHUMP00000008764;zinc finger protein 593;zinc finger protein T86 protein-coding 30943 15866 VALIDATED 1343483 ZNF588 zinc finger protein 588 7 q11.2 63763946 63808839 + 1580863;6480464 10673043;15489334;15231748;12477932 51427 Q8WVL4;Q9H3U2;Q9UII5 AB014735;AB027251;AC091799;BC017809;BC047243;CH471204;NM_001013746;NM_016220 AAH17809;AAH47243;BAA85623;BAB20272;EAW77973;EAW77974;EAW77975;EAW77976;EAW77977;EAW77978;NP_001013768;NP_057304;Q8WVL4;Q9H3U2;Q9UII5 Hs.50216 ZFD25;smap-7 protein-coding 16749 18669 603989 1346702 ZNF587 zinc finger protein 587 19 19 19 q13.43 55404757 55419973 + 63053081 63068299 + 58361181 58376491 + 1580863;6480464 17474147;15489334;15231748;12477932;10520746;14702039;16344560 84914 E7EP41;Q96SQ5 AA524202;ABBA01020798;AC010326;AC010522;AC010645;AF294842;AK000820;AK026676;AK027616;AK160374;AMYH01010030;BC011243;BC011810;BC017219;BC126237;BC126239;BC144112;BC144113;CH471135;DA334859;NM_001204817;NM_032828 AAI26238;AAI26240;AAK58839;BAA91388;BAB15523;BAB55235;BAD18717;EAW72537;EAW72538;NP_001191746;NP_116217;Q96SQ5 Hs.642598;Hs.658251 1701524;2121180;5015861;5016478;5016596;5017266;5020740;5022463;5022578;5022651;5024413;5037552;5109663;7185938 D10S16;D11S2921;D1S1423;D3S1673;D7S2067E;D8S2279;GDB:434012;GDB:631802;L17809;L17877;L18506;RH104395;STS-N33228 FLJ14710;FLJ20813;FLJ52732;ZF6 OTTHUMP00000206924;OTTHUMP00000206925;zinc finger protein 587;zinc finger protein zfp6 protein-coding ENSG00000198466 30955 15864 VALIDATED 1352410 ZNF595 zinc finger protein 595 4 4 4 p16.3 205 28985 + 43227 78099 + 53227 88099 + 737633;1580863;6480464 12477932 15489334;14702039;22505724 152687 E9PN20;F5H663;Q7Z3I0;Q8IYB9 ABBA01019322;AK056302;AK300505;AK301848;AK309855;AMYH01013831;BC036110;BC043151;BX537887;CH471131;NM_182524;Z95704 AAH36110;AAH43151;ACE86668;ACE87352;ADZ15348;BAG51673;BAG62218;BAG63291;CAD97883;EAW82675;NP_872330;Q8IYB9 Hs.709469 1706390;2153726;2175869;5014051;5022200;5022450;5024761;5037552 D10S275;D4S3358;D8S2278;D8S2279;L18426;RH36905;SHGC-67276;SHGC-80766 FLJ31740 OTTHUMP00000231883;zinc finger protein 595 protein-coding 27196 15868 PROVISIONAL 1349599 ZNF60 zinc finger protein 60 1505991 7611 13129 1343049 ZNF594 zinc finger protein 594 17 17 17 p13 5100476 5112825 - 5023555 5035902 - 5082831 5095178 - 1580863;6480464 16344560;11347906;11181995;7865130;16169070;12477932 84622 I3L508;Q6ZNC6;Q96JF6 AB058774;ABBA01054796;AC012146;AC087500;AK131271;AL833185;AMYH01008047;AY500358;BC136604;BX472376;CH471108;DA448705;NM_032530 AAI36605;AAS55108;BAB47500;BAD18449;EAW90352;EAW90353;NP_115919;Q96JF6 Hs.658402 1678105;2176585;5015619 D11S3114;RH46904;WI-22615 DKFZp667J055 OTTHUMP00000162939;zinc finger protein 594;zinc finger protein HZF18 protein-coding ENSG00000180626 29392 VALIDATED 1346158 ZNF601P zinc finger protein 601, pseudogene 6 p21 28064889 28065147 - 493824 ABBA01038015;AL121944;AMYH01016189;NG_029789 D6S2711;KIAA0036;PRD51p;dJ313I6.8 APPROVED pseudo 29407 INFERRED 1349597 ZNF602P zinc finger protein 602, pseudogene 6 p21 28083427 28083998 + 100419608;493820 ABBA01038015;AL358933;AMYH01016189;NG_025918 dJ265C24.5 APPROVED pseudo 23313 INFERRED 1346602 ZNF603P zinc finger protein 603, pseudogene 6 p21 28143966 28144452 + 493821 ABBA01038015;AL022393;AMYH01016189;NG_032184 p373c6.7 APPROVED pseudo 23322 INFERRED 1344825 ZNF604P zinc finger protein 604 pseudogene 493817 19999 1353829 ZNF596 zinc finger protein 596 8 8 8 p23.3 152397 167535 + 172200 187339 + 182200 197339 + 737633;1580863;6480464 12477932 16421571;16344560;15489334;14702039 169270 E5RFP1;E5RHT8;E5RIL8;E5RIV8;E5RJH7;Q8TC21 ABBA01007272;ABBA01007273;AC004908;AK313454;AMYH01018263;BC026190;CH471181;CR747438;DA685143;DA714658;DB053699;DN995476;DR006332;NM_001042415;NM_001042416;NM_173539 AAD05197;AAH26190;BAG36241;EAW51447;NP_001035880;NP_001035881;NP_775810;Q8TC21 Hs.591388 1689594 RH40619 FLJ36123 OTTHUMP00000109535;OTTHUMP00000225360;OTTHUMP00000225362;zinc finger protein 596 protein-coding ENSG00000172748 27268 11731 VALIDATED 1343964 ZNF600 zinc finger protein 600 19 19 19 q13.41 50318151 50339447 - 57960559 57981846 - 53268747 53290034 - 1580863;6480464 14702039;12576331;20936779;22359512;22505724 162966 Q6ZNG1;Q8N692 ABBA01068239;ABBA01068240;AC008813;AK075230;AK131231;AMYH01009956;BX640933;CH471135;NM_198457;U52096 AAA97912;BAD18414;CAE45968;EAW72095;EAW72096;NP_940859;Q6ZNG1 Hs.696848 5038480;5097027 RH120970;RH70673 DKFZp686F06123;KR-ZNF1 zinc finger protein 600;zinc finger protein KR-ZNF1 protein-coding 30951 11733 VALIDATED 1351139 ZNF597 zinc finger protein 597 16 16 16 p13.3 3692878 3700261 - 3426111 3433491 - 3486110 3493490 - 737633;1580863;6480464 12477932 18029348;15489334;14702039;20211142;22505724 146434 Q96LX8 ABBA01026740;AC025283;AK057633;AMYH01007093;BC029899;CH471112;NM_152457 AAH29899;ABZ92104;BAB71538;EAW85367;NP_689670;Q96LX8 Hs.88630 1680871;1851185;2121664 RH68092;RH69449;RH93596 FLJ33071 OTTHUMP00000159721;zinc finger protein 597 protein-coding ENSG00000167981 26573 15869 614685 PROVISIONAL 1318632 ZNF592 zinc finger protein 592 This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011] 15 15 15 q25.3 61717985 61775836 + 83092822 83150667 + 85291818 85349663 + 1580863;6480464;7240710 15302935;17081983;15489334;15231748;14702039;12477932;9039502;20360844;12030328;11391656;20038795;20531441;20133760;17000644;22939629;22005931;21555454 9640 H0YM74;Q92610 AA835974;ABBA01052948;AC012291;AK090507;AMYH01006872;BC040038;BC094688;BC112232;BC112234;BC143600;BG757479;BQ217254;CH471101;D86966;NG_028094;NM_014630 AAH94688;AAI12233;AAI12235;BAA13202;EAX01957;EAX01958;EAX01959;NP_055445;Q92610 Hs.79347 1660443;1675307;1699912;1721577;2191357 G59798;MARC_17853-17854:1025010913:1;RH103564;RH48457;WI-14719 CAMOS;KIAA0211;MGC138437;MGC138439;SCAR5 zinc finger protein 592 APPROVED protein-coding ENSG00000166716 28986 10339 606937;613624 REVIEWED 1312605 ZNF598 zinc finger protein 598 Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012] 16 16 16 p13.3 2259947 2271940 - 1987769 1999764 - 2047768 2059763 - 737633;6480464 12477932 16094384;15592455;15489334;14702039;22751931;16169070;22939629;21139048;21890473;21987572;22118674;20531386;22505724;22944692 90850 H3BPF3;H3BQQ2;H3BR87;Q86UK7 ABBA01030283;AC005606;AK024487;AL834428;AMYH01007047;BC010990;BC029270;BC041015;BC050477;CA309611;CH471112;NG_032989;NM_178167 AAH10990;AAH41015;AAH50477;BAB15777;CAD39089;EAW85569;EAW85570;EAW85571;EAW85572;EAW85573;EAW85574;EAW85575;NP_835461;Q86UK7 Hs.343828 1694648;1694872 G43500;G44316 DKFZp762F135;FLJ00086 zinc finger protein 598 protein-coding ENSG00000167962 28079 11732 REVIEWED 1349333 ZNF609 zinc finger protein 609 15 15 15 q22.31 41669287 41855885 + 62578672 62765320 + 64791619 64978267 + 737633;1580863;6480464 12477932 17081983;16713569;16572171;16341674;15489334;9205841;20360068 23060 H3BP69;O15014 AB002293;ABBA01038876;ABBA01038877;ABBA01038878;ABBA01038879;ABBA01038880;ABBA01038881;ABBA01038882;ABBA01038883;ABBA01038884;AC090543;AC091231;AMYH01006711;AW956219;BC000648;BC009226;BC014251;BC029441;BC050315;BC084543;BC110401;BC142647;BM791986;CH471082;NM_015042 AAI10402;AAI42648;BAA20755;EAW77686;EAW77687;EAW77688;NP_055857;O15014 Hs.595451;Hs.696256 1683994;1773850;1787836;1848886;2137022;5024545;5111335 A006R24;D1S3695;FB5E9;RH44856;RH66579;SHGC-132603;SHGC-36468 KIAA0295;MGC164858 zinc finger protein 609 protein-coding ENSG00000180357 29003 18754 PROVISIONAL 1353121 ZNF605 zinc finger protein 605 12 12 12 q24.33 133198265 133233123 - 132008120 132042941 - 133498019 133532892 - 6480464 14702039;12477932;11181995;17974005 100289635 Q86T29;Q8WW51 ABBA01042535;ABBA01042536;ABBA01042537;AC073911;AC127070;AK027873;AK122878;AL832191;AL832623;AMYH01004923;BC020877;BF476024;CH471218;NM_001164715;NM_183238 AAH20877;BAG53776;CAD89946;CAD91163;EAW54805;EAW54806;EAW54807;NP_001158187;NP_899061;Q86T29 Hs.29698 1653401;1746389;2156742;2162597;2168548 A006R19;D12S1205E;G64709;RH44654;SGC34278 DKFZp451B1818;DKFZp686B222;FLJ14967;FLJ16520 OTTHUMP00000237378;OTTHUMP00000237379;zinc finger protein 605 protein-coding ENSG00000196458 28068 VALIDATED 1343824 ZNF607 zinc finger protein 607 19 19 19 q13.1 34987799 35011231 - 42879116 42902531 - 38187264 38210691 - 737633;6480464 12477932 16189514;15489334;14702039;19851296;20198315 84775 K7ELX6;K7ELZ2;K7EN48;K7ESQ1;Q96SK3 AB209242;ABBA01040633;ABBA01040634;ABBA01040635;AC093227;AK027708;AK127464;AK131557;AK131559;AMYH01009769;BC005085;BC014850;CH471126;NM_001172677;NM_032689 AAH05085;AAH14850;BAB55313;BAD18691;BAD18693;BAD92479;EAW56748;EAW56749;EAW56750;NP_001166148;NP_116078;Q96SK3 Hs.116622 FLJ14802;MGC13071 zinc finger protein 607 protein-coding ENSG00000198182 28192 18356 VALIDATED 1320347 ZNF606 zinc finger protein 606 19 19 19 q13.4 55531922 55558196 - 63180252 63206526 - 58488440 58514714 - 737633;1580863;6480464 12477932 15964554;15489334;14702039;11347906;8889549;22939629;18029348;22505724 80095 F5H208;F8VVX5;F8VZC9;F8VZG6;F8W1C8;F8W1H2;Q8WXB4;Q9H7U2 AA033715;AB058755;ABBA01020788;ABBA01020789;AC008969;AC010326;AF455357;AK024322;AK056696;AK293097;AK294037;AMYH01010031;BC022533;BC036570;BC037209;CH471135;NM_025027 AAH37209;AAL58442;ADZ15501;BAB14883;BAB47481;BAF85786;BAG57389;EAW72546;EAW72547;EAW72548;NP_079303;Q8WXB4 Hs.654967 1652789;1676474;1689841;2177708 RH91797;RH98955;SHGC-53148;STS-T97475 FLJ14260;KIAA1852;ZNF328 OTTHUMP00000242141;OTTHUMP00000242143;zinc finger protein 328;zinc finger protein 606 protein-coding ENSG00000166704 25879 15871 613905 VALIDATED 1603572 ZNF599 zinc finger protein 599 19 19 19 q13.11 31961373 31976528 - 39940819 39955974 - 35248979 35264134 - 6480464 15489334;14702039;12477932;22505724 148103 K7EJP3;Q96NL3 ABBA01018726;AC020910;AK055225;AK302548;AK307339;AMYH01009718;BC033354;BC044615;BC092428;NM_001007248 AAH44615;AAH92428;ABZ92110;BAB70879;BAH13738;NP_001007249;Q96NL3 Hs.590961 1678791;1698810;5015881 GDB:335751;RH102968;RH81033 FLJ50920 zinc finger protein 599 protein-coding ENSG00000153896 26408 18355 VALIDATED 1353580 ZNF615 zinc finger protein 615 19 19 19 q13.41 49544146 49561016 - 57186400 57203270 - 52494587 52511483 - 737633;1580863;6480464 12477932 14702039;16344560;22505724 284370 H9KV89;M0QZR2;M0QZZ4;M0R0F8;M0R130;Q8N8J6 ABBA01068262;AC011460;AC011468;AK091029;AK094071;AK096691;AK128361;AK131494;AK291734;AK294977;AMYH01009954;BC053884;BC105100;BC105102;BC112961;BC143429;BX647556;BX648594;CR936612;DA095942;DA236166;DA244381;NM_001199324;NM_198480 AAI05101;AAI05103;AAI43430;BAC87399;BAD18638;BAF84423;BAG58048;CAI56755;NP_001186253;NP_940882;Q8N8J6 Hs.368355 1670508;1675816;1722003 G59887;RH65399;SHGC-32428 DKFZp686O1554;FLJ33710;FLJ39372 zinc finger protein 615 protein-coding ENSG00000197619 24740 15875 VALIDATED 1349101 ZNF617 zinc finger protein 617 404666 31398 1354121 ZNF610 zinc finger protein 610 19 19 19 q13.41 49889106 49919972 + 57540494 57561923 + 52839498 52870376 + 737633;1580863;6480464 12477932 16344560;15489334;14702039;21890473 162963 M0QYM6;Q8N9Z0 ABBA01068257;AC010320;AK093359;AK290888;AL831871;AMYH01009954;BC039903;BC105967;CH471135;DA133752;DB577508;NM_001161425;NM_001161426;NM_001161427;NM_173530 AAH39903;AAI05968;ABZ92115;BAC04144;BAF83577;CAD38559;EAW72073;EAW72074;EAW72075;NP_001154897;NP_001154898;NP_001154899;NP_775801;Q8N9Z0 Hs.147025 5037552 D8S2279 DKFZp547A1010;FLJ36040;MGC102679 zinc finger protein 610;zink finger protein protein-coding ENSG00000167554 26687 11735 VALIDATED 1321825 ZNF618 zinc finger protein 618 9 9 9 q32 87285868 87466170 + 115678383 115858696 + 116638562 116818875 + 737633;1580863;6480464 12477932 11853319;20583170;19724895;19851296;20198315 114991 B1ALC2;B5MDS3;Q5T7W0 AB075832;ABBA01042678;AF147430;AF495724;AJ420454;AK126896;AL137850;AL162393;AMYH01021670;AMYH01021671;BC012922;BC036039;BC053892;BC130642;BC130644;BC136287;BC143826;BI463128;CH471090;NM_133374 AAH12922;AAH36039;AAH53892;AAI36288;AAQ06678;BAB85538;EAW87401;EAW87402;EAW87403;NP_588615;Q5T7W0 Hs.349208 1703792;1761477;1775368;2166006;2178150;2187063;2218690 RH65570;RH78690;SGC33380;SHGC-145484;SHGC-79121;STS-N25716;ZNF618__4714 FP13169;NEDD10 OTTHUMP00000021962;OTTHUMP00000021963;OTTHUMP00000021964;neural precursor cell expressed, developmentally down-regulated 10;zinc finger protein 618 protein-coding ENSG00000157657 29416 18719 VALIDATED 1346771 ZNF613 zinc finger protein 613 19 19 19 q13.41 49480254 49498577 + 57122500 57140817 + 52430688 52449011 + 737633;6480464 12477932 15489334;14702039 79898 M0QX19;M0R2C1;Q6PF04 ABBA01068262;AC011460;AK023652;AK027565;AMYH01009954;BC057776;CA427456;CH471135;NM_001031721;NM_024840 AAH57776;BAB55201;EAW72052;EAW72053;EAW72054;EAW72055;NP_001026891;NP_079116;Q6PF04 Hs.183390 1682581;1725161;2110831;5022651 D11S2921;RH118883;RH92372;ZNF613__4711 FLJ13590 zinc finger protein 613 protein-coding ENSG00000176024 25827 15873 VALIDATED 1342737 ZNF614 zinc finger protein 614 19 19 19 q13.41 49566135 49581238 - 57208389 57223429 - 52516577 52531680 - 737633;1580863;6480464 12477932 16344560;15489334;14702039 80110 M0QYG4;M0R1H2;Q8N883;Q9BSN8 ABBA01068262;AC011468;AK023547;AK025594;AK097156;AK309346;AMYH01009954;BC004930;BC022246;BC101392;BC101393;BC101394;BC101395;BG179764;BG286230;BG436055;BG493979;BG687087;BI913696;BM129588;BQ025846;BU154861;CH471135;DA940231;DC368937;NM_025040 AAH04930;AAH22246;AAI01393;AAI01394;AAI01395;AAI01396;BAB15184;BAC04966;EAW72058;EAW72061;NP_079316;Q8N883 Hs.292336 1658044 STS-AA027259 FLJ21941;MGC120638 zinc finger protein 614 protein-coding ENSG00000142556 24722 15874 VALIDATED 1351809 ZNF611 zinc finger protein 611 19 19 19 q13.41 50255299 50287709 - 57899284 57924947 - 53206066 53238307 - 737633;1580863 12477932 14702039;16344560;22505724 81856 M0QXE4;M0QXQ6;M0QYR0;M0QYZ5;M0R1T1;M0R2W3;Q8N823 ABBA01068242;ABBA01068243;ABBA01068244;AC008813;AC022150;AK021787;AK091389;AK097434;AL834123;AMYH01009956;BC000918;BC028590;BC071949;BC136343;BC143996;CH471135;DA225124;DA226106;DA245006;DA726181;DB122407;NM_001161499;NM_001161500;NM_001161501;NM_030972 AAI36344;BAC05052;BAG52347;CAH10596;EAW72093;EAW72094;NP_001154971;NP_001154972;NP_001154973;NP_112234;Q8N823 Hs.143951 2128923;5037552;5038480;5097027 D8S2279;RH120970;RH48095;RH70673 MGC5384 OTTHUMP00000206930;zinc finger protein 611 protein-coding ENSG00000213020 28766 15872 VALIDATED 1315658 ZNF608 zinc finger protein 608 5 5 5 q23.2 119928361 120036555 - 124000509 124108704 - 123972610 124080805 - 6480464 15489334;10574462;18029348;15146197;14702039;12477932;12168954;10508479;20932654;20935630;21890473;22589738 57507 A2RRB2;B3KPE6;Q9ULD9 AB033107;ABBA01068924;ABBA01068925;AC112196;AC113398;AF155106;AK056247;AL117587;AMYH01015593;AMYH01015594;BC038370;BC045828;BC103742;BC131507;BC151226;CH471086;CN406017;CR749624;NM_020747 AAD42872;AAH38370;AAI03743;AAI31508;AAI51227;BAA86595;BAG51658;CAB56008;CAH18418;EAW48858;EAW48859;EAW48860;EAW48861;NP_065798;Q9ULD9 Hs.266616 1772924;1788950;2140119;2145693 G65550;L28303;RH69760;WI-13632 DKFZp781C0723;MGC166851;NY-REN-36 OTTHUMP00000223018;OTTHUMP00000223019;renal carcinoma antigen NY-REN-36;zinc finger protein 608 protein-coding ENSG00000168916 29238 18357 VALIDATED 1343654 ZNF619 zinc finger protein 619 3 3 3 p22.1 40461460 40491614 + 40493641 40504881 + 40518604 40531728 + 1580863;6480464 14702039;12477932;8889548 285267 C9JRN5;E5RJF3;E9PCD9;Q17RW3;Q8N2I2 ABBA01024790;AC121754;AK075245;AK304139;AK304741;AK304793;AMYH01013101;BC117169;BC143304;BC143306;BC143331;BC143332;BM665474;CH471055;CQ783354;DC308744;NM_001145082;NM_001145083;NM_001145093;NR_026746 AAI17170;AAI43307;BAC11495;BAG65033;BAG65543;BAH14249;CAF86560;EAW64611;EAW64612;NP_001138554;NP_001138555;NP_001138565;Q8N2I2 Hs.407159 2106755;2174935;2187142;5022578 D1S1423;RH65996;RH69815;ZNF619__4715 FLJ90764 OTTHUMP00000209111;OTTHUMP00000225964;OTTHUMP00000225965;zinc finger protein 619 protein-coding ENSG00000177873 26910 15877 VALIDATED 1605318 ZNF616 zinc finger protein 616 19 19 19 q13.41 49667215 49692753 - 57309465 57335003 - 52617653 52643191 - 6480464 15489334;14702039;12477932;22505724 90317 M0QXF0;M0QYU5;M0R0C2;Q08AN1 ABBA01068261;AC011468;AK025434;AK092266;AL832969;AMYH01009954;BC032805;BC033199;BC125099;BC125100;CD048470;NM_178523 AAH33199;AAI25100;AAI25101;BAG52513;CAH56353;NP_848618;Q08AN1 Hs.645225;Hs.731969 1339293;1676542;1721395;2128713 D3S1514;G59699;RH80131;WIAF-1689 MGC149778;MGC45556 zinc finger protein 616 protein-coding 28062 15876 VALIDATED 1606672 ZNF620 zinc finger protein 620 3 3 3 p22.1 40490257 40501910 + 40522534 40534042 + 40547530 40559712 + 6480464 14702039;12477932;20562864;16344560;16368877 253639 C9J967;F8WC31;Q6ZNG0 ABBA01024789;AC121754;AK093599;AK131232;AMYH01013102;BC044953;BY800121;CH471055;DA172830;DA613081;NM_001256167;NM_001256168;NM_175888 AAI48387;AAI53009;BAC04203;BAD18415;EAW64613;EAW64614;EAW64615;EAW64616;NP_001243096;NP_001243097;NP_787084;Q6ZNG0 Hs.581541 2220072 D6S2868 MGC50836 OTTHUMP00000209106;OTTHUMP00000209109;zinc finger protein 620 protein-coding ENSG00000177842 28742 15878 VALIDATED 7244081 ZNF625-ZNF20 ZNF625-ZNF20 readthrough (NMD candidate) This locus represents naturally occurring read-through transcription between the neighboring zinc finger protein 625 (ZNF625) and zinc finger protein 20 (ZNF20) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011] 14702039;20967262 100529855 ABBA01029805;ABBA01029806;AC022415;AK096560;AK292455;AMYH01009489;NR_037802 BAF85144 Hs.512823 1773004 D1S3038 miscrna 48368 VALIDATED 1354066 ZNF621 zinc finger protein 621 3 3 3 p22.1 40509087 40523759 + 40541380 40556047 + 40566376 40581043 + 6480464 16344560;15489334;14702039;12477932 285268 C9JM43;C9JZC2;Q6ZSS3 ABBA01024789;AC122683;AK074366;AK127181;AMYH01013102;BC101619;BC113415;CR749268;DA282973;DB480668;NM_001098414;NM_198484 AAI01620;AAI13416;ABZ92159;ADR83177;BAB85061;BAC86873;CAH18124;NP_001091884;NP_940886;Q6ZSS3 Hs.19977 1648728;1672338;2139479;2145866;5014029;5015961;5022450 D10S275;D13S1639;D15S1477;SHGC-37030;SHGC-76882;STS-AA029050;STS-N33233 DKFZp686B11107;FLJ23786;FLJ45246;MGC126668 OTTHUMP00000162078;OTTHUMP00000209064;OTTHUMP00000209112;zinc finger protein 621 protein-coding 24787 15879 VALIDATED 1342948 ZNF624 zinc finger protein 624 17 17 17 p11.2 16426947 16460062 - 16464776 16497883 - 16524048 16557167 - 6480464 16344560;12477932;10718198;20453000;22505724 57547 C9J5H1;J3QKY7;Q9P2J8 AB037770;ABBA01035647;AC005822;AC092714;AC098850;AI913542;AK131401;AMYH01008150;BC103943;BC103944;BC103945;BC103946;BF435259;CH471222;DA318803;DA808501;NM_020787 AAI03944;AAI03945;AAI03947;BAA92587;BAD18548;EAX04519;NP_065838;Q9P2J8 Hs.128078 1687634;1793020 PMC186597P3;RH99300 KIAA1349;MGC119602;MGC119603;MGC119605 OTTHUMP00000064982;OTTHUMP00000065230;zinc finger protein 624 protein-coding ENSG00000197566 29254 18359 VALIDATED 1352371 ZNF625 zinc finger protein 625 19 19 19 p13.2 12150092 12161917 - 12116705 12128529 - 12255705 12267546 - 737633;1580863 12477932 15489334;16344560;20562864;22505724 90589 F2Z3I2;H7C2C9;Q96I27 ABBA01029805;AC022415;AMYH01009489;BC007868;BC101589;BC101591;BC143563;CH471106;DB071985;DN991057;NM_145233;NR_037801 AAH07868;AAI01590;AAI01592;AAI43564;ABZ92080;EAW84261;EAW84262;EAW84263;NP_660276;Q96I27 Hs.732736 OTTHUMP00000209841;zinc finger protein 625 protein-coding 30571 15880 VALIDATED 1352479 ZNF63 zinc finger protein 63 7614 13132 1345531 ZNF623 zinc finger protein 623 8 8 8 q24.3 141028566 141045759 + 144789516 144807043 + 144718183 144735900 + 1580863;6480464 16344560;15489334;12477932;9734811;19322201 9831 B4DGP3;E7ENV5;O75123 AB014528;ABBA01005245;AC067930;AC105210;AK294695;AMYH01019111;AW161801;BC067516;BC067517;BC067518;BC075056;BC075057;BC112898;BC112899;BF983220;BX477157;CH471162;DA100931;DA211779;DB161675;DB227885;DB452301;DC355766;DC380463;NM_001082480;NM_001261843;NM_014789 AAH67516;AAH67517;AAH67518;AAH75056;AAH75057;AAI12900;ABZ92283;BAA31603;BAG57854;EAW82216;NP_001075949;NP_001248772;NP_055604;O75123 Hs.43133;Hs.694018;Hs.741978 1777080;5492757 STS-N22293;UniSTS:482336 MGC103965;MGC104128 OTTHUMP00000228811;zinc finger protein 623 protein-coding ENSG00000183309 29084 18358 VALIDATED 6481204 ZNF630-AS1 ZNF630 antisense RNA 1 100874120 Z98304 APPROVED miscrna 41215 1322437 ZNF626 zinc finger protein 626 19 19 19 p12 20637163 20678851 - 20594585 20636242 - 20802745 20844402 - 737633;1580863;6480464 12477932 18255255;14702039;23400010;22505724 199777 M0QY39;Q68DY1 AA525169;ABBA01051358;AC010636;AK091329;AK096221;AMYH01009626;AMYH01009627;BC007116;BC107803;BX648764;CH471106;CR749233;NM_001076675;NM_145297 AAH07116;AAI07804;AAI72239;AAI72571;ABZ92121;BAC04729;CAH18089;EAW84878;EAW84879;NP_001070143;NP_660340;Q68DY1 Hs.657001 2220430;5015404;5015861;5015961;5016478;5020885;5020948;5022651;5024413;5091413;5106651;5109281;5109283;5109575;7185938;7186918 D10S16;D11S2921;D15S1477;D19S702E;D1S1425;D1S1431;ERV3;G35510;GDB:434012;L17705;L17791;L17877;SHGC-31340;STS-N35025;UniSTS:481985 MGC104224 zinc finger protein 626 protein-coding ENSG00000188171 30461 15881 VALIDATED 5132501 ZNF638-IT1 ZNF638 intronic transcript 1 (non-protein coding) 2 2 71451817 71454991 + 71601070 71604237 + 100507113 AADB02001877;ABBA01075553;AC007878;XR_109944;XR_112334;XR_115554 1691176 RH80604 miscrna 41434 MODEL 1319325 ZNF622 zinc finger protein 622 5 5 5 p15.1 16475243 16489513 - 16504628 16518894 - 16451628 16465894 - 1580863;6480464 15489334;15635413;12645566;12477932;11802789;21832049;22863883;22939629;22990118;18029348;21771788;21903422;21139048;21890473;21906983 90441 Q969S3 ABBA01020658;AC020980;AMYH01014931;AY046059;BC008752;BC010545;CH471102;NM_033414 AAH08752;AAH10545;AAL02121;EAX08025;NP_219482;Q969S3 Hs.60300 1644485;1771842;2040010;2165298;2165300;2174420 Bdy22g07;REN91033;RH16190;RH36253;SGC34720;STS-AA009781 MGC17552;MGC2485;ZPR9 OTTHUMP00000115678;zinc finger protein 622;zinc finger-like protein 9 protein-coding ENSG00000173545 30958 12278 608694 PROVISIONAL 1343222 ZNF64 zinc finger protein 64 1505991 7615 13133 1347134 ZNF627 zinc finger protein 627 19 19 19 p13.2 11602969 11624141 + 11569327 11590974 + 11708235 11729974 + 737633;6480464 12477932 18077766;17967605;16344560;15489334;14702039;12016960;19709766 199692 K7EJ27;K7EKY8;K7ELG4;Q7L945 ABBA01029830;ABBA01029831;AC020947;AC104527;AF024694;AK074846;AK075063;AK095639;AMYH01009487;AMYH01009488;BC006279;BC069232;BC098416;CH471106;CQ783708;DB043358;NM_145295 AAB81084;AAH06279;AAH69232;AAH98416;ABZ92120;BAC11240;BAC11379;CAF86822;EAW84236;EAW84237;NP_660338;Q7L945 Hs.526665 1648015;2119678;2119680 A005Q34;G20420;RH11973 FLJ90365 zinc finger protein 627 protein-coding ENSG00000198551 30570 18360 612248 VALIDATED 1353900 ZNF639 zinc finger protein 639 3 3 3 q26.33 177472559 177484329 + 180524245 180536014 + 179041551 179053320 + 737633;1580863;6480464 12477932 20646234;16713569;16051665;15489334;14522885;16182284;19615732;21890473 51193 C9IZP0;C9J3R1;J3KR59;J3KR68;Q9UID6 AB097862;ABBA01058539;ABBA01058540;AC007823;AF003924;AMYH01013687;BC020500;BC026181;CH471052;DQ323613;NM_016331 AAF21240;AAH20500;AAH26181;ABD27860;ABZ92331;BAC77610;EAW78413;EAW78414;EAW78415;EAW78416;NP_057415;Q9UID6 Hs.632578 1658782;1670909;1735310;1735334;2108691;2133557;5108026 A002S03;ANC_2H01__4300.2;D3S2945E;D3S2959E;SHGC-77563;SHGC-77564;STS-N90567 6230400O18Rik;ANC-2H01;ANC_2H01;ZASC1 Kruppel-like;OTTHUMP00000212173;OTTHUMP00000212174;OTTHUMP00000212175;OTTHUMP00000212195;OTTHUMP00000212196;OTTHUMP00000212197;OTTHUMP00000212198;zinc finger amplified in esophageal squamous cell carcinomas 1;zinc finger protein 639;zinc finger protein ANC_2H01;zinc finger protein ZASC1 protein-coding ENSG00000121864 30950 15882 PROVISIONAL 1314773 ZNF629 zinc finger protein 629 16 16 16 p11.2 29498892 29507651 + 30697271 30706024 - 30789770 30798523 - 1580863;6480464 9205841;1946370;1505991;12477932;18029348;22505724 23361 Q9UEG4 AB002324;ABBA01042056;AC106886;AK026115;AMYH01007499;BC015676;BC047041;BC063520;BC080594;CH471192;M88374;NM_001080417 AAA61332;BAA20784;EAW52195;NP_001073886;Q9UEG4 Hs.301094 1677100;1678355;1687147;1770267 Cda1jd07;D16S3188;RH65007;SHGC-61072 KIAA0326;ZNF;ZNF65 DNA-binding protein;zinc finger protein 629;zinc finger protein 65 protein-coding ENSG00000102870 29008 PROVISIONAL 1606755 ZNF628 zinc finger protein 628 Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008] 19 19 19 q13.42 53027628 53035784 + 60679511 60687666 + 55987699 55995854 + 6480464 15556296;15489334;12477932 89887 K7EL41;Q5EBL2 ABBA01020870;AC008735;AF367249;AMYH01010000;AMYH01010001;BC016036;BC047332;BC089449;NM_033113 AAH47332;AAH89449;AAK68716;NP_149104;Q5EBL2 Hs.525209 1689191 RH91819 MGC105139;ZEC;Zfp628 OTTHUMP00000197269;zinc finger protein 628;zinc finger protein Zec APPROVED protein-coding ENSG00000197483 28054 18317 610671 VALIDATED 5129380 ZNF646P1 zinc finger protein 646 pseudogene 1 13 13 34969349 34970460 - 53982900 53984011 - 100419854 ABBA01037060;AL365230;AMYH01005130;NG_024858 pseudo 39749 INFERRED 1606174 ZNF641 zinc finger protein 641 12 12 12 q13.11 47529785 47541023 - 47022179 47030844 - 48733791 48745029 - 6480464 16343441;14702039;12477932;18029348 121274 F8VSM8;F8VXJ5;F8VZ73;F8VZV7;H0YHX6;Q96N77 ABBA01031481;AC024257;AK055857;AK092740;AK298064;AL713659;AMYH01004432;AY842285;BC018090;CH471111;DB445168;NM_001172681;NM_001172682;NM_152320 AAH18090;AAW28082;BAB71031;BAG52605;BAG60357;CAD28468;EAW57980;EAW57981;EAW57982;NP_001166152;NP_001166153;NP_689533;Q96N77 Hs.23492 1652269;1678663;1736238;1848215;1854747;2119367;2119369;2155553;2160920 A006Z41;D12S1175E;D12S1182E;D12S1404;RH47402;RH94099;SHGC-56774;STS-D60068;WI-18050 DKFZp667D1012;FLJ31295 OTTHUMP00000242444;OTTHUMP00000242445;OTTHUMP00000242446;OTTHUMP00000242449;zinc finger protein 641 protein-coding ENSG00000167528 31834 08711 613906 VALIDATED 1352524 ZNF630 zinc finger protein 630 This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. [provided by RefSeq, Jul 2010] X X X p11.3-p11.1 52113325 52126779 - 47802547 47815739 - 47917567 47931025 - 6480464 16344560;15489334;12477932;20186789 57232 B2ZWG8;B2ZWG9;B2ZWH0;F8WCH7;Q2M218 ABBA01052430;ABBA01052431;AC244636;AK000580;AK307979;AMYH01022268;BC037316;BC112139;BX116378;BX419623;CH471164;DA114160;DC319369;DC352599;DC353064;NG_022889;NM_001037735;NM_001190255;NR_033730;Z98304 AAI12140;ABZ92359;EAW59337;EAW59338;NP_001032824;NP_001177184;Q2M218 Hs.650883 1702042 DXS6616 FLJ20573;FLJ97927;FLJ98691;MGC138344;dJ54B20.2 OTTHUMP00000202168;OTTHUMP00000202169;OTTHUMP00000205040;dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein);zinc finger protein 630 APPROVED protein-coding ENSG00000221994 28855 300819 REVIEWED 1350374 ZNF65 zinc finger protein 65 1505991 7616 13134 1351485 ZNF646 zinc finger protein 646 16 16 16 p11.2 29202670 29211760 - 30993269 31002334 + 31085743 31094833 + 1580863;6480464 16189514;12477932;9205841;21139048;22451204;19060904 9726 C9J3L0;H3BSD0;O15015 AB002294;ABBA01042077;AC135050;AK304808;AMYH01007503;BC035589;CH471192;NM_014699 AAH35589;BAA20756;BAG65558;EAW52170;EAW52171;NP_055514;O15015 Hs.119273 1678389;1737551;1737575 D16S2660;D16S2666;RH91770 KIAA0296 OTTHUMP00000044993;zinc finger protein 646 protein-coding ENSG00000167395 29004 15886 VALIDATED 2301491 ZNF652P1 zinc finger protein 652 pseudogene 1 3 3 3 p21.31 50797152 50799593 - 50799093 50800523 - 50823686 50826127 - 1740334 646592 Q7M4M3 ABBA01024537;AC099047;AMYH01013176;NG_013223;NG_028012 ZNF652P APPROVED pseudo 35166 INFERRED 1606465 ZNF648 zinc finger protein 648 1 1 1 q25.3 155131144 155138287 - 180290328 180297470 - 182023705 182030847 - 6480464 17081983;16710414;12477932;20686565 127665 Q5T619 ABBA01027773;AK128654;AL355482;AMYH01001547;BC137223;BC137224;NM_001009992 AAI37224;AAI37225;NP_001009992;Q5T619 Hs.684328 OTTHUMP00000035419;zinc finger protein 648 protein-coding ENSG00000179930 18190 18361 VALIDATED 1345360 ZNF654 zinc finger protein 654 3 3 3 p11.1 88942131 88947592 + 88270952 88276504 + 88188262 88193814 + 6480464 14702039 55279 Q8IZM8 ABBA01004634;AC119733;AC128650;AF543494;AK001859;AK024795;AL357201;AMYH01013325;CH471110;NM_018293 AAI48425;AAI53005;AAN40504;BAA91946;BAB15007;EAW68861;EAW68862;NP_060763;Q8IZM8 Hs.591650;Hs.661116 1645064;1777199;1784894;5493437 RH44266;SHGC-37158;SHGC-79019;UniSTS:486248 FLJ10997;FLJ21142 OTTHUMP00000214069;melanoma-associated antigen;zinc finger protein 654 protein-coding ENSG00000175105 25612 07722 VALIDATED 1604575 ZNF644 zinc finger protein 644 The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] 1 1 1 p22.2 89629009 89735831 - 91153443 91260259 - 91380855 91487812 - 6480464 16344560;21695231;16710414;15489334;15302935;14702039;12477932;11042152;10574462;22539872;22939629;20694148;19061646;19471022;21139048;21693764;21890473;20360068;21963094 84146 A7E234;Q9ULJ9 AB019255;AB033047;ABBA01045569;ABBA01045570;AF208847;AK001587;AK023596;AK024026;AK291520;AL136109;AMYH01000784;AMYH01000785;AMYH01000786;BC031003;BC041138;BC050656;BC063683;BC092462;BC110841;BC132776;BC132778;BC150177;BI760689;BX477299;CH471097;DA147194;DB001551;NG_029760;NM_016620;NM_032186;NM_201269 AAF64261;AAH31003;AAH50656;AAH63683;AAH92462;AAI10842;AAI32777;AAI32779;AAI50178;BAA86535;BAA91773;BAB14618;BAB14785;BAD32777;BAF84209;EAW73118;NP_057704;NP_115562;NP_958357;Q9H582 Hs.173001;Hs.744227 1650924;1677764;1699996;1748409;1849790;2133530;2135989;2151345;2165760;2174083;5093264 A009K24;AL009587;AL010033;AU015726;G32616;RH103608;RH99247;SHGC-31099;SHGC-75131;SHGC-75132;SHGC-75133 BM-005;KIAA1221;MGC60165;MGC70410;MYP21;NatF;Zep-2 OTTHUMP00000011764;OTTHUMP00000011765;OTTHUMP00000011766;zinc finger motif enhancer binding protein 2;zinc finger motif enhancer-binding protein 2;zinc finger protein 644;zinc finger protein 644, isoform 2 APPROVED protein-coding ENSG00000122482 29222 15885 614159;614167 REVIEWED 1350708 ZNF652 zinc finger protein 652 17 17 17 q21.32 43821019 43894844 - 44727485 44794834 - 47366568 47439835 - 6480464 16966434;19430483;18456661;14702039;12477932;10231032;22829776;20204290;20414254;20542020;20852445;21045733;21602798;16751776;21678463;21909110;20881960 22834 A8K9F2;D6RF85;Q9Y2D9 AB023141;ABBA01041198;ABBA01041199;ABBA01041200;ABBA01041201;ABBA01041202;ABBA01041203;ABBA01041204;ABBA01041205;AC004797;AC091180;AK093834;AK292667;AMYH01008463;AMYH01008464;AMYH01008465;AMYH01008466;AMYH01008467;BC028045;BC034987;BC139779;BC152440;CH471109;CR933680;DN998934;DQ589455;NM_001145365;NM_014897 AAI39780;AAI52441;BAA76768;BAF85356;CAI45974;EAW94682;EAW94683;NP_001138837;NP_055712;Q9Y2D9 Hs.463375 1647019;1654363;1659002;1691066;1693304;1849826;1857483;2117926;2142996;2147075;2178964;2181753;5022200 G42356;L18426;RH16340;RH18287;RH41933;RH66725;RH67812;RH70768;RH80400;SGC35087;SGC44344;SHGC-33135;SHGC-64325 DKFZp781E2122;KIAA0924 OTTHUMP00000220045;OTTHUMP00000220046;OTTHUMP00000220047;zinc finger protein 652 protein-coding 29147 18362 613907 VALIDATED 1345445 ZNF645 zinc finger protein 645 This gene encodes a member of the zinc finger domain-containing protein family. This family member contains both a RING-type and a C2H2-type of zinc finger domain, and it may function as an E3 ubiquitin-protein ligase. Protein localization suggests a role in human sperm production and quality control. [provided by RefSeq, Aug 2011] X X X p22.11 26411875 26413389 + 22200981 22202495 + 22291030 22292578 + 1580863 18029348;15772651;15489334;14702039;12477932;20657603;20587329;21906983 158506 E3SBK4;Q8N7E2 ABBA01072054;AK098601;AMYH01022142;BC074910;BC126190;BC126192;BX103567;BX293560;CH471074;GQ355336;HC044859;NG_021438;NM_152577 AAH74910;AAI26191;AAI26193;ADI56589;ADR83166;ADR83306;BAC05348;CBH30759;EAW98989;NP_689790;Q8N7E2 Hs.132485 5492509;5492679;5493635;5493745 UniSTS:481395;UniSTS:482007;UniSTS:490014;UniSTS:494509 FLJ25735;HAKAIL E3 ubiquitin ligase;E3 ubiquitin-protein ligase ZNF645;OTTHUMP00000023053;zinc finger protein 645 APPROVED protein-coding ENSG00000175809 26371 06545 REVIEWED 1347968 ZNF653 zinc finger protein 653 19 19 19 p13.2 11488980 11511481 - 11455246 11477654 - 11594242 11616738 - 737633;1580863;6480464 12477932 15489334;12920234;8889548 115950 K7EJG9;K7EKL4;K7EL79;K7ENS4;Q96CK0 ABBA01029845;ABBA01029846;ABBA01029847;AC008481;AK131037;AK314986;AMYH01009486;AMYH01009487;AY072704;BC014187;BC016816;CB241280;CH471106;NM_138783 AAH14187;AAH16816;AAL66763;ADR82777;EAW84224;NP_620138;Q96CK0 Hs.465928 1681624;1734660;5491681 D19S665E;MARC_7831-7832:996688076:1;RH98319 E430039K05Rik;ZIP67 67 kDa zinc finger protein;zinc finger protein 653;zinc finger protein Zip67 protein-coding ENSG00000161914 25196 15889 611371 VALIDATED 1349975 ZNF638 zinc finger protein 638 The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] 2 2 2 p13.1 71409609 71512927 + 71412397 71515697 + 71558885 71662191 + 6480464 15815621;8647861;17081983;16964243;16565220;16189514;21145461;15302935;14702039;12477932;11813260;11149944;9757574;15778465;15489334;21602272;20201926;20237496;16159877;19454010;22939629;18029348;15342556;16344560;19596686;21139048;21906983;19322201;22779921;22586326;21988832;23456168 27332 A8K583;C9JBI6;C9JHV0;C9JMR2;C9JSD0;C9JWN0;E7EUZ3;F5H330;M0QXP4;Q8NF92 ABBA01075553;AC007878;AC096569;AC104084;AC109343;AF273049;AF534078;AI357871;AK093578;AK098006;AK128706;AK291198;AK293938;AK303723;AK309221;AMYH01010427;AMYH01010428;BC010355;BC024000;BC064530;BC083513;BC143728;BM152722;BP348645;BX537425;BX649179;CH471053;CR749322;D83032;DB094964;DB130984;NM_001014972;NM_001252612;NM_001252613;NM_014497 AAF66079;AAG34909;AAH24000;AAH64530;AAH83513;AAI43729;AAM97681;AAX82028;AAY14979;BAA11748;BAC87583;BAF83887;BAG57315;BAG64699;CAD97667;CAH18177;EAW99767;EAW99768;EAW99769;EAW99770;EAW99771;EAW99772;NP_001014972;NP_001239541;NP_001239542;NP_055312;Q14966 Hs.434401;Hs.732823 1691176;1856716;2135463;5109281 D1S1425;RH45151;RH68305;RH80604 DKFZp686P1231;MGC26130;MGC90196;NP220;ZFML;Zfp638 CTCL tumor antigen se33-1;CTCL-associated antigen se33-1;NP220 nuclear protein;OTTHUMP00000160151;OTTHUMP00000202229;cutaneous T-cell lymphoma-associated antigen se33-1;nuclear protein 220;zinc finger matrin-like protein;zinc finger protein 638;zinc finger, matrin-like APPROVED protein-coding ENSG00000075292 17894 11736 614349 REVIEWED 1606512 ZNF649 zinc finger protein 649 19 19 19 q13.41 49442054 49457871 - 57084300 57100059 - 52392488 52408305 - 6480464 11230166;11076863;8125298;16381901;15950191;15489336;15489334;14702039;12477932;11256614;16344560;20562864;21549307 65251 M0QX90;M0QYA0;M0R098;M0R1B1;Q9BS31 ABBA01068262;AC011460;AF086241;AK000909;AK022706;AK225480;AK315487;AL713677;AMYH01009954;BC005368;CH471135;DA782250;NM_023074 AAH05368;BAB14191;BAG37871;CAD28482;CAL38213;EAW72050;NP_075562;Q9BS31 Hs.148322 2175979 RH18492 FLJ12644 zinc finger protein 649 protein-coding ENSG00000198093 25741 07785 611903 VALIDATED 1353056 ZNF66 zinc finger protein 66 19 19 19 p12 20793517 20854461 + 20736302 20885983 + 20959076 21020282 + 6480464 16344560;12477932;1946370;1505991;20379614 7617 I3L137;I3L2D0;M0QY27;Q6ZN08 AC008463;AC010329;AMYH01009628;AMYH01009629;M88375;NG_023377 AAA61333;Q6ZN08 1733844 D19S602 FLJ16537;MGC87430;ZNF66 zinc finger protein 66 APPROVED pseudo 13135 15890 INFERRED 1603811 ZNF658B zinc finger protein 658B, pseudogene 9 9 9 p12 39796402 39797199 + 41578833 41582207 - 41588836 41592207 - 6480464 15164053;14702039;12477932;8889548;20400511 401509 Q4V348 AK095694;AL590491;AL954139;BC137089;BU685875;NR_027861 AAI37090;BAC04610;Q4V348 Hs.449445;Hs.730226 5095528;5096983 RH119101;RH121564 MGC168709 APPROVED pseudo 32033 VALIDATED 1602806 ZNF662 zinc finger protein 662 3 3 3 p22.1 42885293 42898663 + 42922406 42934136 + 42947402 42960825 + 6480464 14702039;12477932 389114 A1A4T9;F8W7S8;F8WE97;Q6ZS27 ABBA01024760;AC092043;AK054699;AK090666;AK090754;AK127779;AK128676;AK131235;AMYH01013115;AMYH01013116;AW117418;BC128085;CH471055;NM_001134656;NM_207404 AAI28086;BAC87129;BAC87565;BAD18417;EAW64683;EAW64684;EAW64685;NP_001128128;NP_997287;Q6ZS27 Hs.720173 5015619;5015961;5037552 D11S3114;D15S1477;D8S2279 FLJ33347;FLJ45880;MGC149141 OTTHUMP00000164035;OTTHUMP00000209907;zinc finger protein 662 protein-coding ENSG00000182983 31930 13516 VALIDATED 1351627 ZNF655 zinc finger protein 655 This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93890274 93908309 + 98993981 99012012 + 99156045 99174076 + 6480464 15558030;16341674;16314882;16189514;15489334;14702039;12853948;12690205;12477932;11179890;8125298 79027 C9IYG2;C9J0V9;C9J9R2;C9JNK1;C9JS03;C9JUB9;F8WCS2;F8WDU5;F8WE52;F8WEB1;F8WEM9;Q68DU4;Q96EZ3 AACC02000084;ABBA01013254;ABBA01013255;AC005020;AF086023;AK027114;AK054750;AK057245;AK098231;AK122929;AK128057;AK225976;AK304785;AK314593;AK316024;AMYH01017722;AY099353;BC000823;BC004288;BC007378;BC011816;BC024770;BC037407;BC063478;BE293580;BI548533;BI912391;BM829333;BX490067;CH236956;CH471091;CR749270;DN993232;NG_029962;NM_001009958;NM_001009960;NM_001083956;NM_001085366;NM_001085367;NM_001085368;NM_024061;NM_138494 AAH00823;AAH04288;AAH07378;AAH11816;AAH24770;AAH37407;AAM33786;AAS02017;ABZ92053;BAB71394;BAG37165;BAG53803;BAG54623;BAG65536;BAH14395;CAH18126;EAL23870;EAL23871;EAW76648;EAW76649;EAW76650;EAW76651;NP_001009958;NP_001009960;NP_001077425;NP_001078835;NP_001078836;NP_001078837;NP_076966;NP_612503;Q8N720 Hs.599798 1655836;1687329;1688002;1697634;1855110;5015619;5037552 D11S3114;D7S2042E;D8S2279;RH102330;RH92314;RH92514;WI-16402 DKFZp686M1631;FLJ23461;MGC10859;MGC16203;MGC5521;VIK;VIK-1 OTTHUMP00000210242;OTTHUMP00000210243;OTTHUMP00000210245;OTTHUMP00000210246;OTTHUMP00000210247;OTTHUMP00000210248;OTTHUMP00000210251;OTTHUMP00000210254;OTTHUMP00000210255;OTTHUMP00000210256;vav-1 interacting Kruppel-like protein;vav-interacting Krueppel-like protein;zinc finger protein 655 APPROVED protein-coding ENSG00000197343 30899 11673 REVIEWED 1345425 ZNF658 zinc finger protein 658 9 9 9 p13.1 39737402 39740723 + 40761402 40782112 - 40771402 40792112 - 6480464 16344560;15489334;15164053;14702039;12477932;11181995 26149 Q5TYW1 AA657471;AI123536;AI308081;AK022636;AK024222;AK057375;AK292150;AL110217;AL353770;AMYH01019704;AMYH01019705;BC031626;BX479383;BX664608;CH878355;DA120232;DA404383;NM_033160 AAH31626;BAB14145;BAB71457;BAF84839;BAG51273;CAB53677;EAW50476;NP_149350;Q5TYW1 Hs.522147 5095528;5096983 RH119101;RH121564 DKFZp572C163;FLJ32813;MGC35232 OTTHUMP00000015412;zinc finger protein 658 protein-coding ENSG00000196409 25226 11342 VALIDATED 1346042 ZNF660 zinc finger protein 660 3 3 3 p21.31 44564450 44575551 + 44601460 44612561 + 44626456 44637557 + 6480464 15489334;14702039;12477932;22505724 285349 C9J3D4;C9J3N9;Q6AZW8 ABBA01024739;AC099669;AK094189;AMYH01013121;BC075094;BC075095;BX538171;CH471055;NM_173658 AAH75094;AAH75095;BAC04303;CAD98047;EAW64713;NP_775929;Q6AZW8 Hs.733134 2120939;5024756;5037552;5492503;5492763 D3S3969;D8S2279;RH80030;UniSTS:481381;UniSTS:482374 FLJ36870 OTTHUMP00000164128;OTTHUMP00000209719;OTTHUMP00000209720;zinc finger protein 660 protein-coding 26720 08213 VALIDATED 1605935 ZNF665 zinc finger protein 665 19 19 19 q13.42 50713768 50738515 - 58358364 58388431 - 53666552 53696619 - 6480464 22561531;16344560;14702039;22505724 79788 Q9H7R5 ABBA01068220;ABBA01068221;AC092070;AK096261;AK291403;AL832507;AMYH01009957;DA696332;NM_024733 BAF84092;NP_079009;Q9H7R5 Hs.502355 1677628;1762065;1856522;5015879;5022578;5037552 D19S862;D1S1423;D8S2279;GDB:314949;RH94203;SHGC-145975 FLJ14345;ZFP160L zinc finger protein 160-like;zinc finger protein 665 protein-coding 25885 07856 PROVISIONAL 4107144 ZNF663 zinc finger protein 663 20 20 20 q13.12 41796547 41797698 - 44518739 44521536 - 45085132 45086282 - 6480464 11181995;12477932;15489334 100130934 Q8NDT4 ABBA01052680;AL031686;AL831934;AMYH01011943;BC100775;BC100776;BC100777;CH471077;NR_045983 CAD38590;EAW75737;Q8NDT4 Hs.712133 5492843 UniSTS:483018 DKFZp547G0215;MGC118776 pseudo 25342 PROVISIONAL 7245379 ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) 12477932 100128252 ABBA01020833;AC004696;AC098795;AMYH01010019;AW955601;BC008651;BC110411;NR_036521;NR_036522 AAH08651 Hs.23133 1683583;1722463 G61972;RH16574 miscrna ENSG00000166770 44321 VALIDATED 1606961 ZNF664 zinc finger protein 664 12 12 12 q24.31 124057506 124099805 + 123023623 123065922 + 124457762 124499986 + 6480464 16381901;15489336;14702039;12477932;11256614;11230166;11076863;8634327;19936222;16344560;8889548;22589738;20686565;19322201 144348 Q8N3J9 ABBA01060387;AC068790;AK023009;AK056034;AL834266;AMYH01004844;BC017960;BC037793;BC051696;BC093848;BC101530;BQ185193;BX647762;CH471054;CS300563;DA304849;DA328413;L41669;NM_001204298;NM_152437 AAC41997;AAH17960;AAH51696;AAH93848;AAI01531;ABZ92103;BAG51609;CAD38941;CAH10567;CAK32227;CAL37684;EAW98441;EAW98442;EAW98443;EAW98444;EAW98445;EAW98446;NP_001191227;NP_689650;Q8N3J9 Hs.524828 1647245;1694820;1697910;1780404;5493137 AW060232;G43642;RH102483;RH45840;UniSTS:484411 DKFZp761B128;MGC126579;ZFOC1;ZNF176 OTTHUMP00000239105;OTTHUMP00000239106;OTTHUMP00000239107;OTTHUMP00000239108;zinc finger Organ of Corti 1;zinc finger protein 176;zinc finger protein 664;zinc finger protein ZFOC1;zinc finger protein from organ of Corti protein-coding ENSG00000179195 25406 15723 VALIDATED 1602785 ZNF674 zinc finger protein 674 This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010] X X X p11.3 50549004 50596734 - 46243490 46289820 - 46357160 46404892 - 6480464;7240710 16385466;16344560;11181995;22126752;22505724 641339 E5RHV3;Q2M3X9 ABBA01052217;ABBA01052218;ABBA01052219;ABBA01052220;ABBA01052221;ABBA01052222;ABBA01052223;ABBA01052224;AK295054;AK308986;AL022165;AL031393;AMYH01022249;AW173662;AY971607;BQ417100;BX648127;CH471164;DA195605;DC317540;NG_023376;NM_001039891;NM_001146291;NM_001190417 AAI56258;AAI57039;AAY40800;BAG58103;EAW59264;EAW59265;EAW59266;NP_001034980;NP_001139763;NP_001177346;Q2M3X9 Hs.636105 5015605 D11S2977 DKFZp686H0940;MRX92;ZNF673B OTTHUMP00000226865;OTTHUMP00000226866;OTTHUMP00000226867;mental retardation, X-linked 92;zinc finger family member 674;zinc finger protein 674 APPROVED protein-coding ENSG00000251192 17625 300573;300851 REVIEWED 1605627 ZNF669 zinc finger protein 669 1 1 1 q44 220559566 220563976 - 245329916 245334251 - 247263264 247267674 - 6480464 16710414;15489334;14702039;12477932;22505724 79862 E2QRF4;E5RI66;Q5VT36;Q5VT37;Q96BR6 ABBA01031779;AK022668;AK056020;AL627095;AMYH01001909;BC015312;CA447495;CH471148;NM_001142572;NM_024804 AAH15312;BAB14166;BAG51606;EAW77172;EAW77173;NP_001136044;NP_079080;Q96BR6 Hs.163754 5015619;5016596;5037552;5109362 D11S3114;D17S1239;D8S2279;GDB:631802 FLJ12606 OTTHUMP00000038562;OTTHUMP00000038564;OTTHUMP00000227797;OTTHUMP00000227798;zinc finger protein 669 protein-coding ENSG00000188295 25736 07783 VALIDATED 1603200 ZNF667 zinc finger protein 667 19 19 19 q13.43 53993696 54031761 - 61643012 61680555 - 56950693 56988770 - 6480464 17397802;15489334;14702039;12477932;16344560;20379614;21139048;21900206;23080069 63934 E7EPS0;K7EIE0;K7EQ15;K7ERY5;M0QX02;Q5HYK9 ABBA01020833;ABBA01020834;ABBA01020835;ABBA01020836;AC006116;AC013256;AC098795;AK024073;AK056508;AK096513;AK126957;AK127426;AMYH01010019;BC074898;BC074899;BC136388;BC150593;BX642001;BX647401;CA428758;CH471135;CR936605;DA580285;NM_022103;NR_030740 AAF06067;AAH74898;AAH74899;AAI36389;AAI50594;BAG51734;CAI46040;CAI56751;EAW72453;EAW72454;NP_071386;Q5HYK9 Hs.676605 2141321;2173382;5016478;5022450;5022578;5037552;5492703;5493993 D10S275;D1S1423;D1S3018;D8S2279;GDB:434012;STS-AA015922;UniSTS:480669;UniSTS:482087 DKFZp686O111;FLJ14011;FLJ45518;MIPU1 myocardial ischemic preconditioning upregulated 1 ortholog;zinc finger protein 667 protein-coding ENSG00000198046 28854 08592 611024 VALIDATED 1605939 ZNF668 zinc finger protein 668 16 16 16 p11.2 29211862 29225335 + 30979672 30993005 - 31072164 31085641 - 6480464 15489334;14702039;12477932;16344560;21852383;19322201 79759 A8K1I4;C9J092;C9JCJ0;C9JG35;C9JHH8;Q96K58 AB209710;ABBA01042077;AC135050;AK023541;AK027398;AK289899;AK308239;AK315623;AMYH01007503;BC021997;CH471192;DA450347;DC412389;NM_001172668;NM_001172669;NM_001172670;NM_024706 AAH21997;ABZ92059;BAB14602;BAB55084;BAD92947;BAF82588;BAG37991;EAW52172;EAW52173;EAW52174;NP_001166139;NP_001166140;NP_001166141;NP_078982;Q96K58 Hs.102928 1661906;1685401 RH47854;SHGC-63580 FLJ13479;FLJ14492 OTTHUMP00000045000;OTTHUMP00000045001;OTTHUMP00000045005;zinc finger protein 668 protein-coding ENSG00000167394 25821 07828 VALIDATED 1602290 ZNF676 zinc finger protein 676 19 19 19 p12 22194153 22212264 - 22153743 22171593 - 22361903 22379753 - 6480464 20421499;14702039;20085233;23001564;22505724 163223 Q8N7Q3 ABBA01051403;ABBA01051404;AC073539;AK097798;AMYH01009641;BX281304;NM_001001411 BAC05174;NP_001001411;Q8N7Q3 Hs.55452 1663124;1851256;2220626 D17S1691;D19S1074;UniSTS:486333 zinc finger protein 676 protein-coding ENSG00000196109 20429 17313 PROVISIONAL 6893033 ZNF674-AS1 ZNF674 antisense RNA 1 (head to head) X p11.23 46404925 46407910 + 12477932;14702039;16344560 401588 ABBA01052224;AK056314;AL022165;AMYH01022249;BC034616;DA707714;NG_023376;NR_015378 Hs.729370 5022450;5037552 D10S275;D8S2279 APPROVED miscrna ENSG00000230844 44266 VALIDATED 1604218 ZNF675 zinc finger protein 675 19 19 19 p12 23672149 23706760 - 23627548 23661857 - 23835708 23870017 - 6480464 11751921;11851921;16344560;15231748;14702039;15576338;22505724 171392 M0QXM7;M0QXU1;M0R1W1;M0R1X5;M0R373;M0R3E4;M0R3G8;Q8TD23 AB209601;ABBA01051438;ABBA01051439;AC073544;AK093669;AK307845;AMYH01009657;AY044432;CH471106;DA777369;NM_138330 AAI56534;AAI72491;AAK95822;BAC04216;BAD92838;EAW84944;EAW84945;NP_612203;Q8TD23 Hs.264345 2220430;5020946;5113020 L17971;RH80873;UniSTS:481985 FLJ36350;TBZF;TIZ TRAF6 inhibitory zinc finger;TRAF6-binding zinc finger protein;TRAF6-inhibitory zinc finger protein;zinc finger protein 675 protein-coding ENSG00000197372 30768 18193 VALIDATED 1602674 ZNF672 zinc finger protein 672 1 1 1 q44 222293723 222305000 + 247099153 247110337 + 249132530 249143714 + 6480464 15489334;14702039;12477932 79894 D6RD56;D6RH11;Q499Z4 ABBA01002095;AK025954;AK027476;AK027679;AK298016;AL672291;AMYH01001952;BC007385;BC008872;BC029310;BC035140;BC050348;BC068506;CH471257;NM_024836 AAH07385;AAH08872;AAH35140;AAH50348;AAH68506;BAB15294;BAB55290;BAG60320;EAW57538;NP_079112;Q499Z4 Hs.521151 1770397;2133991;5092750 A005X35;G32305;SHGC-33414 FLJ22301 OTTHUMP00000222433;OTTHUMP00000222434;OTTHUMP00000222435;OTTHUMP00000222436;zinc finger protein 672 protein-coding ENSG00000171161 26179 07983 PROVISIONAL 1347814 ZNF68 zinc finger protein 68 7619 13137 1602675 ZNF671 zinc finger protein 671 19 19 19 q13.43 55274647 55282522 - 62922931 62930795 - 58231119 58238995 - 6480464 16344560;15489334;14702039;12477932;21890473;21900206 79891 C9J3V7;M0QX87;M0R091;Q8TAW3 ABBA01020803;ABBA01020804;AC003006;AK027159;AK091421;AK225665;AK293680;AK310074;AMYH01010028;AMYH01010029;BC025728;CH471135;DB104548;NM_024833 AAH25728;ABZ92062;BAB15677;BAH11567;EAW72528;EAW72529;NP_079109;Q8TAW3 Hs.180402 1687618;1714725 RH120027;RH98527 FLJ23506 zinc finger protein 671 protein-coding ENSG00000083814 26279 08031 VALIDATED 1603930 ZNF670 zinc finger protein 670 1 1 1 q44 220495929 220538357 - 245266710 245308692 - 247197940 247242115 - 6480464 18029348;16710414;16189514;15592455;15489334;14702039;12477932;16344560;19060904;21988832;23006423;22505724 93474 E7EVQ0;F2Z2N8;Q9BS34 ABBA01031778;ABBA01031779;AK027325;AK074774;AL512637;AL627095;AMYH01001908;BC005360;BG532425;CH471148;CQ783971;DA509721;DA757117;DB291578;DB367437;NM_001204220;NM_033213 AAH05360;ABZ92089;BAC11200;CAF86950;EAW77170;NP_001191149;NP_149990;Q9BS34 Hs.732305 2180718;2187478 AFM207xa7;RH70897 FLJ12606;MGC12466 OTTHUMP00000038527;zinc finger protein 670 protein-coding 28167 11305 VALIDATED 1604169 ZNF677 zinc finger protein 677 19 19 19 q13.42 50780541 50800009 - 58430450 58449923 - 53738638 53758111 - 6480464 15489334;12477932;18029348;22505724 342926 M0QYA4;M0R079;M0R0I7;M0R1V2;M0R297;Q86XU0 ABBA01068218;AC092070;AK026366;AK308120;AMYH01009959;BC029855;BC050038;BX648243;CH471135;NM_182609 AAH29855;AAH50038;ABZ92161;ADZ15985;EAW72124;NP_872415;Q86XU0 Hs.20506 1337701;1704486;1851917;2123047;5014051;5015619;5015881;5021872;5022651;5037552;5117897 D11S2921;D11S3114;D19S180;D8S2278;D8S2279;GDB:335751;GDB:631813;SHGC-36894;SHGC-82990;WI-11649;sY3084 MGC48625 hypothetical protein MGC48625;zinc finger protein 677 protein-coding ENSG00000197928 28730 14658 PROVISIONAL 1603154 ZNF678 zinc finger protein 678 1 1 1 q42.13 200943099 201042046 + 225817867 225910754 + 227751220 227850164 + 6480464 18391952;16710414;15489334;12477932;16344560;20379614;20846217;20546612;21890473 339500 B1APK8;F5GXA7;Q5SXM1 AB074269;ABBA01009609;ABBA01009610;ABBA01009611;AI655010;AK026475;AK307248;AK311313;AL451054;AL592310;AMYH01001783;BC007286;BC042500;CD655825;CH471098;DA213851;NM_178549;NR_033184;NR_102302 AAH42500;EAW69812;EAW69813;NP_848644;Q5SXM1 Hs.30323 1686250;1698152;1748647;1855672 RH102609;RH80566;SHGC-110313;SHGC-76440 FLJ18355;FLJ22822;MGC15634;MGC42493 OTTHUMP00000035839;hypothetical protein MGC42493;zinc finger protein 678 protein-coding 28652 14622 VALIDATED 1606957 ZNF681 zinc finger protein 681 19 19 19 p12 23759993 23780146 - 23713837 23733533 - 23921997 23941693 - 6480464 14702039;12477932;8889548;22505724 148213 E9PJB6;E9PSC0;Q96N22 ABBA01051443;AC073544;AC139769;AK056088;AK122869;AMYH01009658;BC062216;BC082233;BC136346;BU726573;CH471106;NM_138286 AAI36347;BAB71090;BAG53769;EAW84947;EAW84948;EAW84949;NP_612143;Q96N22 Hs.399952;Hs.735840 5015879;5020740;5113020;7186918 ERV3;GDB:314949;L17809;RH80873 FLJ31526 OTTHUMP00000198578;zinc finger protein 681 protein-coding ENSG00000196172 26457 08102 VALIDATED 1603286 ZNF682 zinc finger protein 682 19 19 19 p12 20020611 20055656 - 19976227 20011277 - 20115227 20150277 - 6480464 16344560;15057824;14702039;12477932;22505724 91120 B3KUX2;B9EG95;M0QXB8;M0QYJ5;M0QZ56;M0R067;M0R1A6;M0R2B6;O95780 ABBA01051345;ABBA01051346;ABBA01051347;AC006539;AK027845;AK074843;AK096571;AK098164;AK127015;AMYH01009613;BC136304;CH471106;DA612976;DA788529;DB174863;DR002650;NM_001077349;NM_033196 AAD14470;AAD14471;AAD14472;AAI36305;BAB55408;BAC11238;BAG53326;BAG53584;EAW84868;EAW84869;EAW84870;NP_001070817;NP_149973;O95780 Hs.306298 1674324;5014051;5022200;5037552 D8S2278;D8S2279;L18426;SHGC-53646 BC39498_3;FLJ90362 zinc finger protein 682 protein-coding ENSG00000197124 28857 14282 VALIDATED 1601926 ZNF683 zinc finger protein 683 1 1 1 p36.11 25084470 25095611 - 26560712 26571853 - 26688125 26699266 - 6480464 16710414;15489334;12477932 257101 Q5T142;Q5T145;Q8IZ20 ABBA01034907;AL451139;AMYH01000398;BC028731;BC029505;BI465178;CH471059;NM_001114759;NM_173574 AAH28731;AAH29505;ABZ92126;EAX07816;EAX07817;EAX07818;NP_001108231;NP_775845;Q8IZ20 Hs.353208 MGC33414;RP11-569G9.6 OTTHUMP00000003617;OTTHUMP00000003618;hypothetical protein MGC33414;zinc finger protein 683 protein-coding ENSG00000176083 28495 14563 VALIDATED 2305769 ZNF679 zinc finger protein 679 7 7 7 q11.21 57408522 57446982 + 63326287 63364744 + 63688852 63727309 + 16189514;15489334;12477932;20379614;20339536 168417 Q8IYX0 ABBA01027975;ABBA01027976;AC073270;AMYH01017428;BC033523;CH471204;NM_153363 AAH33523;EAW77958;EAW77959;NP_699194;Q8IYX0 Hs.520884 1708146 SHGC-79317 MGC42415 OTTHUMP00000209952;hypothetical protein MGC42415;zinc finger protein 679 protein-coding ENSG00000197123 28650 14621 VALIDATED 1604477 ZNF680 zinc finger protein 680 7 7 7 q11.21 57700001 57743229 - 63617697 63660923 - 63980255 64023505 - 6480464 18029348;16344560;15489334;14702039;12477932;20379614;19913121;20628086;22505724 340252 Q8NEM1 ABBA01027977;AC016769;AK074911;AK122937;AK131240;AMYH01017430;AMYH01017431;BC030700;CH471204;DA669757;NM_001130022;NM_178558 AAH30700;ACE86773;ACE87459;ADZ15941;BAC11286;BAD18422;BAG53806;EAW77966;EAW77967;EAW77968;EAW77969;EAW77970;EAW77971;NP_001123494;NP_848653;Q8NEM1 Hs.520886 1679519;2220430;2220626;5016865 RH39204;RH65501;UniSTS:481985;UniSTS:486333 FLJ90430 OTTHUMP00000210084;OTTHUMP00000210085;zinc finger protein 680 protein-coding ENSG00000173041 26897 08296 VALIDATED 1601724 ZNF684 zinc finger protein 684 1 1 1 p34.2 39279625 39296233 + 40769820 40786425 + 40997233 41013841 + 6480464 16710414;15489334;14702039;12477932;21832049 127396 B3KSP5;Q5T5D7;Q5T5D8;Q5T5D9 ABBA01023171;ABBA01023172;AK094072;AL356379;AMYH01000537;BC016016;BC091518;BC111463;BG116229;CH471059;NM_152373 AAH91518;AAI11464;ABZ92097;BAG52807;EAX07208;EAX07209;NP_689586;Q5T5D7 Hs.524767 1780100;1781520 SHGC-142455;SHGC-154417 MGC27466 OTTHUMP00000008480;OTTHUMP00000008481;OTTHUMP00000008482;hypothetical protein MGC27466;zinc finger protein 684 protein-coding ENSG00000117010 28418 11328 VALIDATED 1348158 ZNF69 zinc finger protein 69 19 19 19 p13.2 11893044 11919740 + 11859670 11886144 + 11998670 12025366 + 1580863 12477932;1639391 7620 C9JR48;Q9UC07 ABBA01029821;ABBA01029822;AC008770;AMYH01009488;AW132096;BC051309;CA437198;CH471106;NM_021915;X60076 AAH51309;ABZ92442;CAC16147;EAW84248;EAW84249;EAW84250;NP_068734;Q9UC07 Hs.661955 2180949;5015619;5022578;5022651;5117897 D11S2921;D11S3114;D1S1423;GDB:631813;RH36261 Cos5;MGC59928 OTTHUMP00000209829;OTTHUMP00000209830;OTTHUMP00000209831;hZNF3;zinc finger protein 69 protein-coding ENSG00000198429 13138 11836 194543 VALIDATED 1603925 ZNF689 zinc finger protein 689 16 16 16 p11.2 29676732 29683727 + 30522187 30529183 - 30614686 30621682 - 6480464 16568080;15489334;14702039;12477932;16751776;20562864;21624362;21549307;15146197 115509 Q96CS4 AB065282;ABBA01042043;AC093249;AF086510;AK074896;AK310459;AL834299;AMYH01007497;BC014000;CH471192;CN406120;CQ756574;CQ783987;DA010230;DA485303;DB456506;NM_138447;NR_073480;NR_073481;NR_073482 AAH14000;BAB83744;BAC11275;CAF32597;CAF86958;CAH56363;EAW52228;NP_612456;Q96CS4 Hs.454685 1685618;1690075;1737577 D16S2667;RH75465;SHGC-61056 DKFZp762C173;FLJ90415;TIPUH1 OTTHUMP00000163252;transcription-involved protein upregulated in HCC 1;zinc finger protein 689 protein-coding 25173 14009 VALIDATED 1602068 ZNF688 zinc finger protein 688 16 16 16 p11.2 29714682 29717403 + 30488508 30491229 - 30581007 30583728 - 6480464 15489334;14702039;12477932;10493829;8889548;20562864 146542 H3BPA7;H3BR26;H3BR45;H3BTK8;P0C7X2 ABBA01042040;ABBA01042041;AC002310;AF085979;AK122680;AMYH01007497;BC018997;BM011208;BQ188280;CH471192;NM_001024683;NM_145271 AAH18997;ABZ92106;BAG53663;EAW52233;EAW52234;EAW52235;EAW52236;NP_001019854;NP_660314;P0C7X2 Hs.301463 OTTHUMP00000163244;zinc finger protein 688 protein-coding ENSG00000229809 30489 14070 VALIDATED 1606250 ZNF687 zinc finger protein 687 1 1 1 q21.3 124370082 124379672 + 149521415 149531005 + 151254791 151264381 + 6480464 16964243;18029348;17081983;16710414;15489334;15302935;14702039;12477932;10718198;17000644;22939629;20133760;19471022;21139048;21693764;22632162 57592 A2A3Q2;A6PVV7;F8WCX2;H0Y5I5;Q8N1G0 AB037862;ABBA01049390;AK023105;AL391069;AMYH01001387;BC020245;BC032463;CH471121;CR749307;NM_020832 AAH32463;ADZ15950;BAA92679;BAB14406;CAH18162;EAW53451;EAW53452;EAW53453;EAW53454;NP_065883;Q8N1G0 Hs.186756 1799882;1800830;1800888;1801518;1801552;1802088;1804094;1804978;1805514;1824914;1825556;1828714;1836494;1925368;1925370;1925372;1925374;1925376;1925378;1925380;1925382;1925384;1925386;1925388;1925390;1925392;1925394;1925396;1925398;1925400;1925402;1925404;1925406;1925408;1925410;1925412;1925414;1925416;1925418;1925420;1925422;1925424;1925426;1925428;1925430;1925432;1925434;1925436;1925438;1925440;1925442;1925444;1925446;1925448;1925450;1925452;1925454;1925456;1925458;1925460;1925462;1925464;1925466;2131011;2143176;2154133;2170719;2184218;2207574;2207576;2207578;2207580;2207582;2207584;2207586;2207588;2207590;2207592;5015619;5037552 A002Y06;Cda0ff08;D11S3114;D8S2279;ECD00795;ECD01278;ECD01309;ECD01637;ECD01654;ECD01926;ECD02964;ECD03429;ECD03705;ECD13556;ECD13886;ECD15484;ECD19410;REN33509;REN33510;REN33511;REN33512;REN33513;REN33514;REN33515;REN33516;REN33517;REN33518;REN33519;REN33520;REN33521;REN33522;REN33523;REN33524;REN33525;REN33526;REN33527;REN33528;REN33529;REN33530;REN33531;REN33532;REN33533;REN33534;REN33535;REN33536;REN33537;REN33538;REN33539;REN33540;REN33541;REN33542;REN33543;REN33544;REN33545;REN33546;REN33547;REN33548;REN33549;REN33550;REN33551;REN33552;REN33553;REN33554;REN33555;REN33556;REN33557;REN33558;RH64621;WI-11473;WI-13356;stSG627073;stSG627074;stSG627075;stSG627076;stSG627077;stSG627078;stSG627079;stSG627080;stSG627081;stSG627082 DKFZp781I1719;KIAA1441;RP11-126K1.3 OTTHUMP00000014279;OTTHUMP00000014280;OTTHUMP00000014281;zinc finger protein 687 protein-coding ENSG00000143373 29277 13859 610568 PROVISIONAL 1603045 ZNF691 zinc finger protein 691 1 1 1 p34.2 41594265 41600134 + 43084867 43090735 + 43312244 43318148 + 6480464 16710414;15489334;14702039;12477932;9110174;8619474;16169070;16341674;22505724 51058 Q5VV50;Q5VV51;Q5VV52 ABBA01050971;AF131739;AK000938;AK296201;AL512353;AMYH01000555;BC000157;BM741761;CH471059;CR457146;DC378862;NM_001242739;NM_015911 AAD20028;AAH00157;ABZ92328;BAA91434;BAG58929;CAG33427;EAX07127;EAX07128;NP_001229668;NP_056995;Q5VV52 Hs.20879 1697136;2138285 RH102054;SHGC-74678 RP11-342M1.5;Zfp691 OTTHUMP00000008919;OTTHUMP00000008920;OTTHUMP00000008922;zinc finger protein 691 protein-coding ENSG00000164011 28028 14229 VALIDATED 1604343 ZNF692 zinc finger protein 692 1 1 1 q44 222305489 222314485 - 247110828 247119894 - 249144203 249153315 - 6480464 17097062;16710414;15489334;14702039;12477932;8125298;16344560 55657 E7ET73;E9PLQ5;E9PLQ7;E9PRH5;H0YCH4;H0YDF5;H0YEY1;J3KP59;Q9BU19 AB209706;ABBA01002095;AF256175;AK000538;AK001070;AK225535;AK298899;AK302187;AK309421;AL133100;AL672291;AMYH01001952;BC002948;CH471257;DA147512;DA319079;DA693598;DB520788;H07076;NM_001136036;NM_001193328;NM_017865 AAG15327;AAH02948;BAA91239;BAA91490;BAD92943;BAG61010;BAG63552;CAB61410;EAW57539;EAW57540;EAW57541;EAW57542;NP_001129508;NP_001180257;NP_060335;Q9BU19 Hs.377705 1337437;2138810 D1S3739;SHGC-76656 AREBP;FLJ20531;Zfp692 AICAR responsive element binding protein;OTTHUMP00000038242;OTTHUMP00000038243;OTTHUMP00000038244;OTTHUMP00000228860;OTTHUMP00000228864;zinc finger protein 692 protein-coding ENSG00000171163 26049 07922 VALIDATED 1603629 ZNF695 zinc finger protein 695 1 1 1 q44 220444806 220467515 - 245215248 245237978 - 247108849 247171395 - 6480464 16710414;15489334;12477932;15146197;16344560;22505724 57116 F2Z3A3;F6W2C3;Q8IW36 ABBA01031776;ABBA01031777;AC113174;AL512637;AMYH01001907;AMYH01001908;BC023527;BC041082;BC055096;BE743952;CA441360;CN394881;DA809929;NM_001204221;NM_020394;NR_037892 AAH41082;ABZ92358;ADR82705;NP_001191150;NP_065127;Q8IW36 Hs.669893 1687670 RH92233 MGC61907;RP11-551G24.1;SBZF3 OTTHUMP00000038468;OTTHUMP00000227865;OTTHUMP00000227866;OTTHUMP00000227867;OTTHUMP00000227868;zinc finger protein 695;zinc finger protein SBZF3 protein-coding ENSG00000197472 30954 11534 VALIDATED 1605338 ZNF696 zinc finger protein 696 8 8 8 q24.3 140682796 140691429 + 144444971 144451539 + 144373559 144382122 + 6480464 14702039;11181995;12477932;19322201 79943 E5RFI7;E5RG39;E5RH76;E5RH99;E5RJV3;Q9H7X3 ABBA01005261;AC138696;AK024191;AMYH01019103;BC126317;CH471162;NM_030895 AAI26318;BAB14850;EAW82267;EAW82270;NP_112157;Q9H7X3 Hs.512740 1664938;1684554;5016781 RH65208;RH80170;SHGC-67307 FLJ14129 OTTHUMP00000228018;OTTHUMP00000228020;OTTHUMP00000228022;zinc finger protein 696 protein-coding 25872 08595 VALIDATED 1603938 ZNF697 zinc finger protein 697 1 1 1 p12 118392735 118421117 - 119963523 119991913 - 120162000 120190390 - 6480464 12477932 90874 Q5TEC3;Q8N508 ABBA01068516;AK027019;AK311787;AL109966;AMYH01000979;BC007260;BC033126;BC063670;NM_001080470 AAH07260;AAH33126;BAG34730;NP_001073939;Q5TEC3 Hs.381105 1339954;1753027;2110567;2124028 AL009796;D1S185;MGC45731__7718;SHGC-77922 MGC45731 OTTHUMP00000015145;zinc finger protein 697 protein-coding ENSG00000143067 32034 PROVISIONAL 1604763 ZNF700 zinc finger protein 700 19 19 19 p13.2 11930275 11955954 + 11896900 11922578 + 12035900 12061578 + 6480464 12477932;11230166;22505724 90592 K7EQV7;Q9H0M5 ABBA01029818;ABBA01029819;ABBA01029820;AC008770;AK126871;AK308305;AL136732;AMYH01009488;BC111557;BC136777;BC144406;CH471106;DA794204;DB013169;NM_001271848;NM_144566 AAI36778;CAB66666;EAW84251;NP_001258777;NP_653167;Q9H0M5 Hs.528486 1773302;1850215;2181523;2220654;5093312;5114613;5121438 A009L16;G32644;RH78649;SHGC-36253;STS-N32752;STS-R67563;UniSTS:487149 DKFZp434I1610 OTTHUMP00000209858;zinc finger protein 700 protein-coding ENSG00000196757 25292 10903 VALIDATED 1605799 ZNF699 zinc finger protein 699 19 19 19 p13.2 9301432 9311241 - 9266986 9276795 - 9405986 9415795 - 16940975;15489334;21145461;14702039;12477932;22505724 374879 Q32M78 ABBA01029979;AC011451;AK095463;AMYH01009459;BC109267;BC109268;NM_198535 AAI09268;AAI09269;BAC04552;NP_940937;Q32M78 Hs.633842 5022651 D11S2921 FLJ38144;MGC129880;MGC129881;hang hangover homolog;hangover, Drosophila, homolog of;zinc finger protein 699 protein-coding 24750 609571 PROVISIONAL 1351626 ZNF70 zinc finger protein 70 22 22 22 q11.23 7922866 7932372 - 22413772 22423279 - 24083772 24093279 - 1580863;6480464 15489334;15461802;12477932;1639391;14702039;20211142 7621 Q9UC06 AB050771;ABBA01055120;AK122721;AMYH01012646;AMYH01012647;AP000348;BC040161;CH471095;CR456615;NM_021916;X60077 AAH40161;ABZ92443;BAB83033;BAG53688;CAC16148;CAG30501;CAK54649;CAK54948;EAW59597;NP_068735;Q9UC06 Hs.382874 1718345;2108679;5022200;5022649 D11S2875;L18426;RH122944;ZNF70_8739 Cos17;MGC48959 OTTHUMP00000198417;zinc finger protein 70;zinc finger protein N27C7-1 protein-coding ENSG00000187792 13140 11837 194544 PROVISIONAL 1605174 ZNF705A zinc finger protein 705A 12 12 12 p13.31 9901915 9909406 + 8216417 8223909 + 8325150 8332642 + 14702039 440077 B5MCH6;J3KPU9;Q6ZN79 ABBA01012238;AC092111;AMYH01004225;CH471116;NM_001004328 EAW88624;NP_001004328;Q6ZN79 Hs.438536 5112119 SHGC-79779 FLJ16353 OTTHUMP00000239123;OTTHUMP00000239124;zinc finger protein 705A protein-coding ENSG00000196946 32281 13364 VALIDATED 1605166 ZNF705B zinc finger protein 705B 8 8 p23.1 7821316 7856224 + 7783859 7809935 + 14702039;16421571 100132396 P0CI00 AC130365;AK292586;NM_001193630 BAF85275;NP_001180559;P0CI00 Hs.546691 Putative zinc finger protein 705D-like protein LOC100132396;putative zinc finger protein 705B;zinc finger protein 705B;zinc finger protein 705D-like protein-coding ENSG00000215356 32284 VALIDATED 1605331 ZNF702P zinc finger protein 702, pseudogene 19 19 19 q13.41 50519068 50544349 - 58163316 58188596 - 53471504 53496784 - 6480464 14702039;12477932 79986 Q9H963 ABBA01068228;ABBA01068229;ABBA01068230;AC010328;AK023047;AK092593;AL832505;AMYH01009957;BC032590;NR_003578 BAG52576;Q9H963 Hs.714428 1775778;2137478;2178274 D19S398;STS-AA005028;STS-W35282 FLJ12985;ZNF702 APPROVED pseudo ENSG00000242779 25775 07806 VALIDATED 1321655 ZNF7 zinc finger protein 7 8 8 8 q24 142229496 142245171 + 146023707 146039410 + 146052903 146068606 + 1580863;6480464 2106481;15489334;14702039;12477932;10520746;9268371;9155018;2288909;1946370;16169070;19795399;22505724 7553 B4DT08;E9PIH3;E9PJX9;E9PJZ3;E9PM16;E9PPK0;E9PQI2;F5H290;P17097;Q8N8Y4 AB209619;ABBA01005194;AF027146;AF235103;AK096025;AK300001;AK301561;AK308002;AK313745;AMYH01019163;BC058923;BQ020963;BX647998;CH471162;DC301751;M29580;M77170;NM_003416;U71599;X52335 AAA36813;AAA61313;AAB16811;AAB84025;AAH58923;ABZ92245;BAC04677;BAD92856;BAG36485;BAG61820;BAG63056;CAA36561;EAW82038;EAW82039;EAW82040;EAW82041;EAW82042;NP_003407;P17097 Hs.493218 1778768;5014051;5016478;5022651;5037552;5109281 D11S2921;D1S1425;D8S2278;D8S2279;GDB:434012;RH71436 FLJ38706;HF.16;KOX4;zf30 C2-H2 type zinc finger protein;OTTHUMP00000228895;OTTHUMP00000228896;OTTHUMP00000228897;OTTHUMP00000228899;OTTHUMP00000228900;OTTHUMP00000228901;OTTHUMP00000228902;Zinc finger protein-7 (KOX4);zinc finger protein 7;zinc finger protein HF.16;zinc finger protein KOX4;zinc finger protein zfp30 protein-coding ENSG00000147789 13139 01918 194531 VALIDATED 2311724 ZNF705G zinc finger protein 705G 8 8 p23.1 7194013 7230490 - 7215498 7220490 - 16421571 100131980 A8MUZ8 ABBA01134830;AC130360;AMYH01018319;BE466749;BF509407;NM_001164457 A8MUZ8;NP_001157929 Hs.528391 OTTHUMP00000229572;putative zinc finger protein 705G;zinc finger protein 705G-like protein-coding ENSG00000215372 37134 VALIDATED 1602208 ZNF703 zinc finger protein 703 8 8 8 p11.23 36506270 36509365 + 37672459 37675554 + 37553301 37556396 + 6480464 19330026;15897872;15489334;14702039;12477932;21317240;21328542;21337521;20811636;22747683;22886885 80139 Q9H7S9 ABBA01023573;ABBA01023574;AC137579;AK024361;AMYH01018649;BC032534;BC084581;CH471080;NM_025069 AAH32534;AAH84581;BAB14897;EAW63370;NP_079345;Q9H7S9 Hs.744591 2152297 WI-11883 FLJ14299;ZEPPO1;ZNF503L;ZPO1 OTTHUMP00000225524;zinc finger elbow-related proline domain protein 1;zinc finger protein 703 protein-coding 25883 07855 PROVISIONAL 1603988 ZNF701 zinc finger protein 701 19 19 19 q13.41 50124380 50141292 + 57765340 57779861 + 53073526 53090427 + 6480464 18029348;15489334;14702039;12477932;22505724 55762 F5GZM6;M0R085;M0R327;Q6NWZ7;Q9NV72 ABBA01068247;ABBA01068248;AC022150;AK001753;AMYH01009956;BC054884;BC067346;BC080612;BC131719;BC136425;BC136426;CH471135;NM_001172655;NM_018260 AAH54884;AAH67346;AAH80612;AAI31720;AAI36426;AAI36427;BAA91884;EAW72085;EAW72086;NP_001166126;NP_060730;Q9NV72 Hs.235167 1646567;1684178;2173688 RH93828;STS-R41911;WI-16992 FLJ10891 zinc finger protein 701 protein-coding ENSG00000167562 25597 07709 VALIDATED 5476602 ZNF705E zinc finger protein 705E 11 11 q13.4 71202739 71232115 - 71527558 71532522 - 16554811 100131539 A8MWA4 ABBA01017546;AMYH01003789;AP002495;NM_001278713;XM_001723234;XM_001724873;XM_003960495 A8MWA4;NP_001265642;XP_001723286;XP_001724925;XP_003960544 putative zinc finger protein 705E;zinc finger protein 705E protein-coding 33203 INFERRED 1605749 ZNF704 zinc finger protein 704 8 8 8 q21.13 77545653 77791981 - 81713324 81949571 - 81540686 81787016 - 6480464 8889548;12477932 619279 E5RGL7;Q6ZNC4 ABBA01004057;ABBA01004058;ABBA01004059;ABBA01004060;ABBA01004061;AC022598;AC024367;AK131274;AMYH01018828;AMYH01018829;BC004287;BC017966;BC136844;BC136845;BM683148;BX112159;CH471068;NM_001033723 AAI36845;AAI36846;BAD18451;EAW87083;NP_001028895;Q6ZNC4 Hs.434957 1649988;1709302;1718535;1718587;1735796;1755089;1780112;2116887;2120051;2138312;2156842;2158263;2161578;2175590;2183565 D8S1095;D8S1395E;D8S1408E;RH122469;RH122498;RH12788;RH18330;RH45668;RH68638;SHGC-142021;SHGC-154425;SHGC-53169;SHGC-85851;STS-N33187;STS-N55108 FLJ16218;Gig1;MGC10858 OTTHUMP00000227340;zinc finger protein 704 protein-coding ENSG00000164684 32291 VALIDATED 1604442 ZNF705C zinc finger protein 705C, pseudogene 8 8 p23.1 12237365 12263733 + 12211871 12219366 + 12477932 389631 ABBA01026873;AC087203;AC144830;AMYH01018523;NG_005518 MGC131746;ZNF705CP APPROVED pseudo 32283 INFERRED 1342692 ZNF708 zinc finger protein 708 19 19 19 p12 21308892 21347129 - 21265803 21304052 - 21473963 21512212 - 1580863;6480464 14702039;7486829;2288909;2014798;1861988;15576338;22505724 7562 M0QYN4;M0R1G3;M0R2V2;P17019 ABBA01051370;ABBA01051371;AC022432;AK128184;AK131527;AK311130;AMYH01009632;AMYH01009633;BC039403;BX647526;CH471106;NM_021269;X52339;X59845 AAI72244;AAI72551;BAD18665;CAA36565;EAW84891;EAW84892;NP_067092;P17019 Hs.466296 2220430;2220626;5016596;5016865;5022322;5037552;5492395;7186918 D11S2560;D8S2279;ERV3;GDB:631802;RH39204;UniSTS:480893;UniSTS:481985;UniSTS:486333 DKFZp686L10267;FLJ16755;FLJ46310;KOX8;ZNF15;ZNF15L1 zinc finger protein 15;zinc finger protein 15-like 1 (KOX 8);zinc finger protein 708;zinc finger protein KOX8 protein-coding ENSG00000182141 12945 18322 VALIDATED 2299010 ZNF705D zinc finger protein 705D 8 8 8 p23.1 11258886 11262303 - 11984256 12010434 + 11946847 11973025 + 14702039;12477932 728957 P0CH99 AC130366;BC110823;NM_001039615 AAI10824;NP_001034704;P0CH99 Hs.652228 5112119 SHGC-79779 MGC131746;ZNF705C OTTHUMP00000229352;putative zinc finger protein 705C;zinc finger protein 705C;zinc finger protein 705D protein-coding ENSG00000215343 33202 VALIDATED 1349986 ZNF70P1 zinc finger protein 70 pseudogene 1 6 6 p21.32 34737715 34738324 + 33183351 33183960 + 100419609 ABBA01038138;AL645940;AL713971;AL844527;AMYH01016242;BX248408;CR547129;CR759733;CR759786;NG_025932 ZNF314P;bCX269C15.3;dJ1033B10.7 APPROVED pseudo 13846 INFERRED 1605565 ZNF709 zinc finger protein 709 19 19 19 p13.2 12465820 12489452 - 12435743 12456632 - 12571998 12595632 - 16344560;14702039;12477932;16737952;22797925 163051 H7C129;Q8N972 ABBA01029796;ABBA01029797;AC008758;AK290911;AMYH01009491;BC036481;BC038531;BC136746;BC136751;BQ027911;BX954970;CH471106;DA493682;DB443167;NM_152601 AAI36747;AAI36752;BAF83600;EAW84275;EAW84276;NP_689814;Q8N972 Hs.631623 1762365;2142230;2182423;5015961;5037552;5125447 D15S1477;D8S2279;L29650;SGC44256;SHGC-146195;SHGC-44256 FLJ38281 OTTHUMP00000209836;OTTHUMP00000209837;OTTHUMP00000221688;zinc finger protein 709 protein-coding ENSG00000196826;ENSG00000242852 20629 08236 VALIDATED 1602889 ZNF706 zinc finger protein 706 8 8 8 q22.3 98394217 98402912 - 102278442 102287166 - 102209266 102218292 - 6480464 15489334;14702039;12477932;11042152;21107309;21832049;22939629;16344560;21917931 51123 E5RHR6;E5RHV4;E5RIY7;H0YAP1;H0YC70;Q9Y5V0 ABBA01037589;AF125099;AF275802;AF275809;AK027802;AK129859;AK290477;AMYH01018932;AP001330;AP003469;AV721205;BC015925;BC035233;BC068524;BG704587;BI669563;BI755311;CH471060;DB231109;DB549532;NM_001042510;NM_001267708;NM_001267709;NM_016096 AAD39916;AAG23816;AAG23820;AAH15925;AAH68524;ABZ92329;BAF83166;EAW91831;EAW91832;NP_001035975;NP_001254637;NP_001254638;NP_057180;Q9Y5V0 Hs.374485 1644717;1735808;2144677;5022712 9STS01;D8S1393E;D8S1421E;SHGC-76423 HSPC038;PNAS-106;PNAS-113 OTTHUMP00000227642;OTTHUMP00000227644;OTTHUMP00000227646;OTTHUMP00000227648;OTTHUMP00000227649;OTTHUMP00000227650;OTTHUMP00000227651;zinc finger protein 706 protein-coding ENSG00000120963 24992 13688 VALIDATED 1602613 ZNF716 zinc finger protein 716 7 7 7 p11.2 56234465 56257848 + 57513831 57533597 + 57509883 57533265 + 14702039;12853948;23314748;22505724 441234 A6NP11 ABBA01028302;ABBA01028303;ABBA01028304;AC073057;AC092175;AK131575;AMYH01017334;NM_001159279 A6NP11;NP_001152751 Hs.533121 1338911;1658196;1719131;5015861;5016596;5020948;5024761;5037552;7185938 D10S16;D7S2719;D7S494;D8S2279;G35510;GDB:631802;RH123283;RH36905 FLJ46189 OTTHUMP00000210411;zinc finger protein 716 protein-coding ENSG00000182111 32458 VALIDATED 1603343 ZNF707 zinc finger protein 707 8 8 8 q24.3 141077613 141088543 + 144838610 144849543 + 144766622 144777555 + 6480464 16344560;16189514;15489335;15489334;14702039;12477932;17207965;19447967 286075 E9PHZ0;E9PJ46;E9PKX4;E9PNV7;E9PP66;E9PPS7;E9PQ20;E9PS67;Q96C28 ABBA01005243;AC105219;AK001126;AK055198;AK055263;AK095138;AK290432;AMYH01019111;AW294133;BC014894;CH471162;CV023324;DA007942;DA917297;DB249556;NM_001100598;NM_001100599;NM_173831 AAH14894;ACE86646;ACE87328;ADQ32720;BAF83121;BAG51493;EAW82210;EAW82211;EAW82212;EAW82213;EAW82214;NP_001094068;NP_001094069;NP_776192;Q96C28 Hs.521922 OTTHUMP00000228624;OTTHUMP00000228626;OTTHUMP00000228627;OTTHUMP00000228628;OTTHUMP00000228632;OTTHUMP00000228634;OTTHUMP00000228635;OTTHUMP00000228636;OTTHUMP00000228637;zinc finger protein 707 protein-coding ENSG00000181135 27815 14162 VALIDATED 1605220 ZNF713 zinc finger protein 713 7 7 7 p11.2 67033754 67061860 + 55947825 55975927 + 55980331 56008433 + 14702039;12477932;11181995;22505724 349075 F8WD84;Q8N859 ABBA01061839;ABBA01061840;ABBA01061841;AC092579;AC092647;AK097282;AMYH01017276;BC094796;CH471140;NM_182633 AAI46400;AAI48833;BAC04991;EAX07962;EAX07964;NP_872439;Q8N859 Hs.660834 5015619;5015861;5022200;5037552;7185938 D10S16;D11S3114;D8S2279;L18426 FLJ39963 OTTHUMP00000209316;zinc finger protein 713 protein-coding 22043 13440 PROVISIONAL 1343724 ZNF71 zinc finger protein 71 19 19 19 q13.4 54149654 54178220 + 61798504 61827362 + 57106664 57135550 + 1580863;6480464 15489334;15342556;15057824;14702039;12477932;11426589;1946370;1639391;1505991;18029348;20734064;21900206 58491 M0R0C0;Q9NQZ8 ABBA01020832;AC007228;AF269249;AK057019;AL137486;AMYH01010020;BC014280;BP377051;CH471135;M88357;NM_021216;X60074 AAA61315;AAD23608;AAF88036;AAH14280;CAC16174;EAW72467;EAW72468;NP_067039;Q9NQZ8 Hs.301431;Hs.600391 1651852;1658674;1783804;2111390 D19S611E;RH48260;SHGC-145271;STS-W55975 EZFIT Kruppel-related zinc finger protein;endothelial zinc finger protein induced by tumor necrosis factor alpha protein-coding 13141 11838 194545 VALIDATED 2301487 ZNF720P1 zinc finger protein 720 pseudogene 1 16 16 16 p11.2 28693939 28695347 + 31520941 31522350 - 31613440 31614849 - 342426 ABBA01042099;AC106730;AMYH01007509;NG_008699 1713003 RH120592 pseudo 34505 INFERRED 1347410 ZNF711 zinc finger protein 711 This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. [provided by RefSeq, Jul 2008] X X X q21.1 84738361 84767732 + 84385653 84415024 + 84498997 84528368 + 1580863;6480464 15489334;16344560;15772651;12477932;9491611;8733041;1923752;20346720;21384559;21890473;15161980 7552 F5H896;J3KPS6;Q6PK66;Q9Y462 ABBA01051654;ABBA01051655;ABBA01051656;ABBA01051657;ABBA01051658;AC003001;AK294953;AK299604;AK299933;AK308097;AMYH01022660;AY726603;BC006349;BC067294;BX648117;CH471104;DB074057;NG_012535;NM_021998 AAH06349;AAH67294;BAG58028;BAG61535;BAG61766;EAW98563;EAW98564;EAW98565;EAW98566;NP_068838;Q9Y462 Hs.326801 1337920;1648589;1652950;1849071;1849073;2150212;2220050;5491884 A001T09;AL022438;DXS1209;G19618;NIB1445;WI-14596;ZNF6__4707;ZNF711 CMPX1;MRX97;ZNF4;ZNF5;ZNF6;Zfp711;dJ75N13.1 OTTHUMP00000023623;OTTHUMP00000023624;OTTHUMP00000207244;dJ75N13.1 (znf6-like);zinc finger protein 711 APPROVED protein-coding ENSG00000147180 13128 02446 300803;314990 REVIEWED 1601665 ZNF723 zinc finger protein 723 19 p12 23015104 23041173 + 15869325 646864 ABBA01051420;AC008626;AC022145;AMYH01009648;CH471106;DQ048837;NG_029131 EAW84931 1750663 SHGC-111976 zinc finger protein 723 pseudo 32286 INFERRED 1601785 ZNF724P zinc finger protein 724, pseudogene 19 19 19 p12 23235962 23264731 - 23196529 23207362 - 23406607 23433172 - 6480464 440519 A8MTY0;M0R0Z7;M0R3J2 ABBA01051428;AC092329;AK301230;AMYH01009652;DC372621;DC391309;NR_045525 A8MTY0;BAG62802 Hs.675814 2220430;2220626;7186918 ERV3;UniSTS:481985;UniSTS:486333 APPROVED pseudo 32460 PROVISIONAL 1606391 ZNF710 zinc finger protein 710 15 15 15 q26.1 67014271 67029357 + 88345756 88425029 + 90544752 90625432 + 6480464 15489334;14702039;12477932;8889548 374655 H0YKZ0;H0YLC4;H0YLZ7;Q8N1W2 ABBA01053035;ABBA01053036;ABBA01053037;ABBA01053038;ABBA01053039;AC087284;AK094712;AK160373;AL831826;AMYH01006919;AMYH01006920;AMYH01006921;BC020301;BC126476;BC130541;BM973240;NM_198526 AAI26477;AAI30542;BAC04404;BAD18716;CAD38540;NP_940928;Q8N1W2 Hs.459311 1730109;1736186;1739423;2132606;2148525;2152237;2166550;2171424;2171426 A002B10;D11S2326E;D15S136E;D15S638E;D15S889E;D15S890E;G19878;RH65651;RH77789 DKFZp547K1113;FLJ00306;FLJ37393;MGC163413 OTTHUMP00000194688;zinc finger protein 710 protein-coding ENSG00000140548 25352 13329 VALIDATED 1603876 ZNF725P zinc finger protein 725, pseudogene 19 19 19 p12 23509473 23525489 - 23466704 23468017 - 23672766 23688784 - 15057824 100128853 ABBA01051434;AC011493;AC074140;AMYH01009655;CH471106;NG_011783 EAW84942 ZNF725 APPROVED pseudo 32461 INFERRED 1345229 ZNF726P1 zinc finger protein 726 pseudogene 1 19 19 p13.1 23855747 23855935 + 24015084 24015272 + 1580863 1946370;1505991 7618 Q15940 ABBA01051446;AC139769;AMYH01009659;M88376;NG_008024 AAA61334;Q15940 ZNF67;ZNF67P APPROVED pseudo 13136 INFERRED 2301494 ZNF727 zinc finger protein 727 7 7 7 q11.21 57224660 57257774 + 63113164 63177062 + 63505821 63538927 + 16344560;12853948;9847074;22505724 442319 A8MUV8 ABBA01027969;AC115220;AMYH01017427;CH471204;DA235663;NM_001159522 A8MUV8;EAW77955;NP_001152994 Hs.640774 1739001 DYS396 putative zinc finger protein 727 protein-coding ENSG00000257482 22785 PROVISIONAL 1602425 ZNF721 zinc finger protein 721 4 4 4 p16.3 375488 435144 - 409224 483442 - 433777 493442 - 6480464 16344560;14702039;11853319;22505724 170960 B4E159;D6RGC2;E5RGH0;Q8TF20 AB075862;ABBA01019328;AC092574;AI223001;AK021514;AK092362;AK095558;AK095689;AK127067;AK128499;AL834155;AMYH01013833;AMYH01013834;DA309597;HY075884;NM_133474 BAB85568;CAH10687;NP_597731;Q8TF20 Hs.428360;Hs.724168 1657159;2180166;5015879;5022322;5024756;5037552 D11S2560;D8S2279;GDB:314949;RH36065;RH80030;SHGC-67853 FLJ11452;KIAA1982 OTTHUMP00000216854;OTTHUMP00000225095;zinc finger protein 721 protein-coding 29425 13910 VALIDATED 5133819 ZNF729 zinc finger protein 729 19 19 p12 22301775 22332503 + 22469252 22499978 + 15057824;17974005 100287226 A6NN14;M0QY45 ABBA01051405;AC011494;AC073539;AMYH01009642;BX956721;CH471106;NM_001242680 A6NN14;EAW84919;NP_001229609 Hs.531629 1339652 D19S568 zinc finger protein 729 protein-coding ENSG00000196350 32464 VALIDATED 1606958 ZNF714 zinc finger protein 714 19 19 19 p12 21099901 21142864 + 21056811 21099737 + 21264953 21307897 + 6480464 16341674;14702039;12477932;16344560;20211142;19322201;22505724 148206 M0QY60;M0QYV9;M0QZ91;M0R0T4;M0R273;M0R2G4;Q96N38 ABBA01051365;ABBA01051366;ABBA01051367;ABBA01051368;AC010620;AC012627;AK056006;AK090987;AK125662;AMYH01009630;BC022527;BC037782;BC050468;BC064985;BM788748;CH471106;DB028091;NM_182515 AAH37782;AAH50468;BAB71072;EAW84885;EAW84886;EAW84887;NP_872321;Q96N38 Hs.729186 5015861;5015881;5015961;5020740;5020948;5022200;5022322;5022425;5022450;5022578;5024413;5037552;5113020;5120437;5492395;7185938 D10S16;D10S275;D11S2560;D15S1477;D1S1423;D22S296;D8S2279;G35510;GDB:315881;GDB:335751;L17809;L17877;L18426;RH80873;UniSTS:480893 DKFZp547O168;FLJ33668;FLJ43674 zinc finger protein 714 protein-coding 27124 18733 VALIDATED 1350696 ZNF73 zinc finger protein 73 p 1580863;6480464 9337403;1639391 7624 O43830 X60075;Y10929 CAA71860;CAC16146;O43830 Cos12;ZNF186;hZNF2 zinc finger protein 186;zinc finger protein 73 protein-coding 13143 194547 2293897 ZNF730 zinc finger protein 730 19 19 19 p12 23131471 23161066 + 23083163 23124603 + 23299777 23329658 + 6480464 100129543 M0QYG2;M0QYI4;Q6ZMV8 ABBA01051426;AC092329;AC124856;AK131472;AMYH01009651;CH471106;NM_001277403;XM_001715065;XM_001719792;XM_003960760 BAD18617;EAW84934;NP_001264332;Q6ZMV8;XP_001715117;XP_001719844;XP_003960809 Hs.427120 1687802;2220430;7186918 ERV3;RH91862;UniSTS:481985 putative zinc finger protein 730;zinc finger protein 730 protein-coding ENSG00000183850 32470 VALIDATED 6482639 ZNF731P zinc finger protein 731, pseudogene 1 q44 247353213 247354317 - 6480464 729806 ABBA01031782;AL390728;AMYH01001910;NG_022762 1712667;2174849 RH121998;SHGC-76645 ZNF731 pseudo 32471 INFERRED 2311726 ZNF732 zinc finger protein 732 4 4 4 p16.3 205451 240809 - 254230 289104 - 264464 299110 - 22542470;11181995;22505724 654254 B4DXR9 ABBA01019326;AC079140;AK302099;AMYH01013831;CH471131;NM_001137608 B4DXR9;BAG63481;EAW82672;NP_001131080 Hs.698668 FLJ59067 OTTHUMP00000216853;zinc finger protein 732;zinc finger protein LOC654254 protein-coding 37138 PROVISIONAL 1346249 ZNF72P zinc finger protein 72, pseudogene 22 q11.1 16634990 16652137 + 1580863 1639391 100287084 Q9UC05 AP000541;X60078 CAC16145 Cos8;ZNF72 zinc finger protein 72 APPROVED pseudo 13142 194546 1601664 ZNF726 zinc finger protein 726 19 19 19 p12 23941919 23950752 + 23884230 23908609 + 24097684 24116769 + 6480464 15869325;12477932;15146197 730087 A6NNF4;E9PLI7;F1T0F3;J3KNQ9;M0R0X8 ABBA01051448;AC011503;AMYH01009659;BC046415;BE783649;BX475164;CN359557;DQ036016;NM_001244038 A6NNF4;AAH46415;NP_001230967 Hs.655305 5015881;5022588;5024039;5037552;5117897 D16S325;D5S1597E;D8S2279;GDB:335751;GDB:631813 OTTHUMP00000236436;OTTHUMP00000236437;zinc finger protein 726 protein-coding 32462 INFERRED 6483723 ZNF734P zinc finger protein 734, pseudogene 7 q11.21 62904563 62917271 + 12853948 644017 AC006457;AC073188;AMYH01017391;AMYH01017392;AMYH01017393;AMYH01017394;AMYH01017395;NG_009437 1774369 D7S1945 ZNF734 pseudo 32465 INFERRED 2299178 ZNF720 zinc finger protein 720 16 16 16 p11.2 28535933 28584257 - 31632096 31680365 + 31724550 31772886 + 16344560;12477932;8889548;21832049;22505724 124411 E9PKP5;E9PLE2;E9PMU6;E9PRX5;F5GWD4;F5GYB6;F8WER7;Q7Z2F6 ABBA01042102;AC002519;AC074050;AK128671;AL832197;AMYH01007510;BC018134;BC055408;BU742282;CH471192;DA376736;NM_001130913 AAH18134;AAH55408;EAW52108;EAW52109;EAW52110;NP_001124385;Q7Z2F6 Hs.528826 1687578;1713003;1739431;5020740 D16S2933E;L17809;RH120592;RH98223 MGC62019;MGC9313 OTTHUMP00000236077;OTTHUMP00000236165;putative protein ZNF720 protein-coding ENSG00000197302 26987 14026 VALIDATED 4110550 ZNF736P10Y zinc finger protein 736 pseudogene 10, Y-linked Y Y 933777 934849 + 8286892 8287964 - 100419727 ABBA01060233;AC025731;NG_024764 2187967 G66129 pseudo 38410 INFERRED 4110546 ZNF736P11Y zinc finger protein 736 pseudogene 11, Y-linked Y Y 10818394 10819485 - 25012808 25013899 - 100419730 ABBA01159009;AC006366;NG_024779 pseudo 38426 INFERRED 4110545 ZNF736P12Y zinc finger protein 736 pseudogene 12, Y-linked Y Y 10818394 10819485 - 26646557 26647648 - 100419731 AC016698;NG_024785 pseudo 38431 INFERRED 3277907 ZNF736P1Y zinc finger protein 736 pseudogene 1, Y-linked Y Y q11.23 25540738 25545902 - 27131350 27136514 - 442486 AC006338;NG_004755 ZNF736P1;ZNF736PY1 pseudo 37726 VALIDATED 3437022 ZNF736P2Y zinc finger protein 736 pseudogene 2, Y-linked Y Y q11.23 25235272 25240390 + 26825884 26831002 + 392603 AC025735;NG_004755 ZNF736P2;ZNF736PY2 pseudo 37727 VALIDATED 5131592 ZNF736P4Y zinc finger protein 736 pseudogene 4, Y-linked Y 27315359 27316340 + 100419735 AC006386;AC016728;NG_004755 pseudo 38464 VALIDATED 4110544 ZNF736P6Y zinc finger protein 736 pseudogene 6, Y-linked Y Y 1001672 1002773 - 8218960 8220061 + 100419732 AC025731;NG_024791 2187949 G66119 pseudo 38440 INFERRED 4110548 ZNF736P7Y zinc finger protein 736 pseudogene 7, Y-linked Y Y 1361823 1362728 + 7858984 7859889 - 100419725 ABBA01060183;AC010902;NG_024762 pseudo 38404 INFERRED 4110549 ZNF736P8Y zinc finger protein 736 pseudogene 8, Y-linked Y Y 1439541 1440242 + 7781475 7782176 - 100419724 ABBA01060177;AC010678;NG_024761 pseudo 38406 INFERRED 1606870 ZNF717 zinc finger protein 717 3 3 3 p12.3 76529798 76578039 - 75861802 75917392 - 75786029 75834255 - 6480464 16641997;16344560;14702039;12477932;22505724 100131827 C9J5W8;C9J8I7;C9JSV9;C9JVC3;E5RKB3;Q9BY31 ABBA01030991;ABBA01030992;ABBA01030993;AC108724;AC133123;AF226994;AK123776;AMYH01013292;DB079386;DB491038;DR006008;NM_001128223 AAK28319;NP_001121695;Q9BY31 Hs.556877 5492453 UniSTS:481117 FLJ41782;X17;ZNF838 OTTHUMP00000213789;OTTHUMP00000213790;OTTHUMP00000213792;krueppel-like factor X17;kruppel-like zinc finger factor X17;zinc finger protein 717;zinc finger protein 838 protein-coding ENSG00000227124 29448 VALIDATED 4110547 ZNF736P9Y zinc finger protein 736 pseudogene 9, Y-linked Y Y 1283552 1284676 + 7937035 7938159 - 100419726 ABBA01060189;AC010902;AC016749;NG_024763 2187949 G66119 pseudo 38408 INFERRED 1605256 ZNF718 zinc finger protein 718 4 4 4 p16.3 65319 97503 + 114420 146491 + 124420 156491 + 6480464 20080650;14702039;15489334;12477932;22505724 255403 Q3SXZ3;Q8N2R1 ABBA01019323;AC118278;AK074517;AK096662;AL833758;AMYH01013831;BC020836;BC047874;BC052600;BC104026;BC104027;BC104028;BC104029;BC154406;CH471131;NM_001039127;Z95704 AAH52600;AAI04027;AAI04028;AAI04029;AAI04030;AAI54407;BAC11034;CAH56238;EAW82674;NP_001034216;Q3SXZ3 Hs.636638;Hs.724954;Hs.743491;Hs.744444 1644412;1653823;1675676;1732053;1848906;2157576;2220626;5014051;5015619;5022200;5022578;5037552;5093958 A009Z30;D11S3114;D1S1423;D4S1655;D8S2278;D8S2279;G33023;L18426;RH36273;SHGC-24777;SHGC-32625;SHGC-67339;UniSTS:486333 FLJ90036 zinc finger protein 718 protein-coding 26889 08291 PROVISIONAL 1603326 ZNF728 zinc finger protein 728 19 p12 23157685 23186010 - 6480464 14702039;12477932;21139048 388523 M0QZ07;P0DKX0 ABBA01051424;AC011502;AC022145;AC074135;AMYH01009651;BC128130;BC128131;DA326735;DB076533;NM_001267716 NP_001254645;P0DKX0 Hs.616766 1704352;2220626;5038480 RH70673;SHGC-78166;UniSTS:486333 zinc finger protein 43;zinc finger protein 728 protein-coding 32463 VALIDATED 1626257 ZNF735 zinc finger protein 735 7 7 7 q11.21 57386676 57400338 + 63305016 63318103 + 63667581 63680668 + 12853948;20379614;22505724 730291 P0CB33 ABBA01027974;ABBA01027975;AC073270;AC104094;AMYH01017428;NM_001159524 NP_001152996;P0CB33 Hs.723116 1658065;1681805;1739001;1767616 D7S1758;DYS396;GDB:1234260;RH98605 putative zinc finger protein 735 protein-coding 32466 INFERRED 1626267 ZNF742 zinc finger protein 742 19 p12 19798898 19809229 + 730008 XM_001132067 XP_001132067 Hs.675378 protein-coding 32285 3378506 ZNF736 zinc finger protein 736 7 7 7 q11.21 57492820 57529656 + 63408641 63447452 + 63773186 63810017 + 6480464 12477932;16344560;22505724 728927 B4DX44 ABBA01027976;AC073270;AK301806;AMYH01017429;BC031335;BX955073;CH471204;DB048979;NM_001170905 B4DX44;BAG63256;EAW77963;NP_001164376 Hs.734771 1783042;2220430 SHGC-144434;UniSTS:481985 DKFZp781H0161 KRAB-containing zinc-finger repressor protein;OTTHUMP00000210082;zinc finger protein 736 protein-coding ENSG00000234444 32467 VALIDATED 7070414 ZNF733P zinc finger protein 733, pseudogene 7 q11.21 62751665 62764434 - 12477932;12853948 643955 AC006455;AMYH01017362;BC089392;NR_003952 Hs.583308 1705446;1757509;1774369;2143509;5095530 D7S1945;GDB:1317750;RH121583;SHGC-144883;SHGC-83805 ZNF733 pseudo ENSG00000185037 32473 VALIDATED 1353341 ZNF74 zinc finger protein 74 22 22 22 q11.21 4235241 4249494 + 19078480 19092752 + 20748405 20762753 + 1580863;6480464 1639391;16344560;15461802;12684500;12477932;11705709;11313019;10591208;10585771;9346935;8663113;8268910;18029348;22505724 7625 A8K5P3;B5MDQ6;C9J3V1;F8WDT0;Q05BG0;Q9UF07 AB209663;ABBA01015456;AC007731;AF072567;AK128267;AK291358;AK299569;AMYH01012534;BC013395;BC013741;BC048295;BC056902;BG912037;CH471176;CR456616;DA576206;DA791304;NM_001256523;NM_001256524;NM_001256525;NM_003426;NR_046282;X63182;X71623;X92715 AAF21777;AAF21778;AAF21779;AAF21780;AAH13395;AAH48295;BAD92900;BAF84047;BAH13068;CAA50632;CAA63379;CAC16149;CAG30502;CAK54640;CAK54939;EAX02967;EAX02968;EAX02969;EAX02970;NP_001243452;NP_001243453;NP_001243454;NP_003417;Q16587 Hs.517418 1645878;1697468;2110833;5015619 D11S3114;RH102235;SHGC-31580;ZNF74__4718 Cos52;ZNF520;Zfp520;hZNF7 OTTHUMP00000198254;OTTHUMP00000198271;OTTHUMP00000198274;OTTHUMP00000199826;hZNF7;zinc finger protein 520;zinc finger protein 74 protein-coding ENSG00000185252 13144 01928 194548 VALIDATED 1603829 ZNF749 zinc finger protein 749 19 19 19 q13.43 54990393 55000893 + 62638505 62649003 + 57946693 57957191 + 17567985;16344560;15057824;14702039;22505724 388567 C9J756;O43361 ABBA01020808;AC004076;AK122740;AK122794;AMYH01010028;BP872084;DB099619;NM_001023561 AAB97932;NP_001018855;O43361 Hs.467358 FLJ16263;FLJ16360 OTTHUMP00000197237;zinc finger protein 749 protein-coding ENSG00000186230 32783 18610 PROVISIONAL 1625854 ZNF737 zinc finger protein 737 19 19 19 p12 20554891 20583043 - 20518847 20540460 - 20720798 20748626 - 6480464 16344560;15489334;12477932;11181995;8467795;22505724 100129842 M0QZS4;M0R1D1;M0R1M3;M0R1M8;O75373 ABBA01051357;AC008554;AC010636;AF044026;AI857360;AMYH01009625;AMYH01009626;BC015765;CH471106;DA043454;NM_001159293 AAC25694;EAW84877;NP_001152765;O75373 Hs.515696 1666216;2220430;5015879;5021872;5022200;5022450;5022651;5037552;5091413;5109281 D10S275;D11S2921;D1S1425;D8S2279;GDB:314949;L18426;RH65402;STS-N35025;UniSTS:481985;sY3084 ZNF102 zinc finger protein 102 (Y3);zinc finger protein 737 protein-coding 32468 603984 VALIDATED 2304144 ZNF738 zinc finger protein 738 19 19 19 p12 21376460 21406112 + 21333727 21360098 + 21541735 21571384 + 15489334;14702039;12477932;21906983 148203 E9PE46;M0R024;M0R0N2;M0R3I0;Q8NE65 AA831708;ABBA01051373;AC010615;AC022432;AK027579;AK291002;AK291193;AMYH01009633;BC034499;NR_027130 BAF83691;BAF83882;BAG51352;Q8NE65 Hs.124384 pseudo 32469 VALIDATED 1350509 ZNF75BP zinc finger protein 75B, pseudogene 12 12 12 q13 43204702 43207644 - 42687643 42690585 - 44401376 44404318 - 8661144 7628 ABBA01031426;AC024934;AC076972;AMYH01004415;NG_001214;X91827 ZNF75B APPROVED pseudo 13147 VALIDATED 1603524 ZNF740 zinc finger protein 740 12 12 12 q13.13 53223138 53233257 + 51860802 51870921 + 53574535 53584654 + 6480464 16964243;15489334;14702039;12477932;18482256;21832049;21890473;23000965 283337 Q8NDX6 ABBA01008317;AC021072;AC068889;AC073573;AC073611;AF086252;AJ316575;AK091946;AK292744;AMYH01004477;BC053557;CH471054;NM_001004304 AAH53557;BAF85433;CAC86954;EAW96673;EAW96674;NP_001004304;Q8NDX6 Hs.524458 1647991;1666823;1669254;1678591;1699524;1772186 BCD2019;RH103357;RH80407;SHGC-57466;SHGC-63594;STS-AA019740 MGC61706;Zfp740 OTTHUMP00000242630;oriLyt TD-element-binding protein 7;zinc finger protein 740 protein-coding ENSG00000139651 27465 17329 VALIDATED 1602103 ZNF747 zinc finger protein 747 16 16 16 p11.2 29752216 29755631 + 30450280 30453695 - 30542779 30546194 - 6480464 14702039;12477932;10493829;20211142;20562864;19322201 65988 B7Z5R0;Q9BV97 AB209546;ABBA01042036;AC002310;AK054567;AK292192;AMYH01007497;BC001361;CH471192;NM_023931 AAH01361;BAB70760;BAD92783;BAF84881;EAW52239;EAW52240;NP_076420;Q9BV97 Hs.592032 5037552 D8S2279 MGC2474 KRAB domain-containing protein ZNF747;OTTHUMP00000163234;OTTHUMP00000163235 protein-coding 28350 14498 PROVISIONAL 1606138 ZNF746 zinc finger protein 746 7 7 7 q36.1 143839142 143864156 - 148800818 148825727 - 149169884 149194898 - 6480464 15489334;14702039;12477932;21833088;19451621;21376232;19322201;21900206;21693764 155061 C9JNZ9;Q6NUN9 AACC02000041;ABBA01033632;AC004932;AC073314;AI991498;AK055975;AK128244;AK291814;AMYH01018122;BC031968;BC035586;BC068505;BM512385;CH471146;NM_001163474;NM_152557 AAH68505;BAB71061;BAC87351;BAF84503;EAW80042;EAW80043;NP_001156946;NP_689770;Q6NUN9 Hs.24643 1846714;2119070 GDB:4585513;SGC36847 FLJ31413;PARIS OTTHUMP00000213768;parkin-interacting substrate;parkin-interacting sustrate;zinc finger protein 746 protein-coding ENSG00000181220 21948 08099 613914 VALIDATED 1348414 ZNF75CP zinc finger protein 75C, pseudogene 11 11 11 q14.1 75403646 75406539 + 77772751 77773591 + 78094979 78098072 + 1580863 8661144;16554811 729944 Q92670 ABBA01017404;AP003086;NG_008023;NG_016171;X91828 CAA62937;Q92670 1702806 ZNF75 ZNF75C APPROVED pseudo 13148 INFERRED 1602862 ZNF750 zinc finger protein 750 This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008] 17 17 17 q25.3 77382410 77393031 - 78380599 78391220 - 80787310 80797931 - 6480464;7240710 18256691;16751772;16344560;15489334;14702039;12477932;22364861;22185198;22936986 79755 I3L0W7;Q32MQ0 ABBA01019706;ABBA01019707;AC068584;AI539029;AK023903;AK301690;AMYH01008745;BC109036;BC109037;CH471099;CO245511;DA433713;DA872185;NG_011604;NG_011721;NM_024702 AAI09037;AAI09038;BAB14718;BAG63162;EAW89824;NP_078978;Q32MQ0 Hs.464391;Hs.653124 FLJ13841;FLJ51362;MGC125667;MGC125668;Zfp750 protein ZNF750;zinc finger protein 750 APPROVED protein-coding ENSG00000141579 25843 08588 610226;610227 REVIEWED 1345365 ZNF75D zinc finger protein 75D This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc finger motifs. Another functional gene belonging to this family is located on chromosome 16, while pseudogenes have been identified on chromosomes 11 and 12. Alternative splicing results in multiple transcripts variants. [provided by RefSeq, Jun 2010] X X X q26.3 134803744 134813984 - 134247385 134305623 - 134419723 134429965 - 1580863;6480464 8288223;14702039;12477932;1505955;16344560;18029348;8661144;22505724 7626 P51815 ABBA01050054;AC234771;AK091687;AK092347;AK290215;AL450472;AL590282;AL831984;AL832801;AMYH01023014;BC109100;CH471107;DA412890;NG_021412;NM_001185063;NM_007131;S43109;S67970;X68010 AAB22971;AAB29696;AAI09101;ABZ92251;BAF82904;BAG52399;BAG52535;CAA48147;CAD89900;CAI46130;EAX11730;EAX11731;NP_001171992;NP_009062;P51815 Hs.533540 1686416;1699720;1702806;1712302;1758199;2128921;2146922;2177111;2181813 D16S3303;G54060;RH103465;RH66793;RH93882;SHGC-147646;SHGC-58317;STS-N33366;ZNF75 D8C6;MGC126327;ZKSCAN24;ZNF75;ZNF82;ZSCAN28 OTTHUMP00000024073;OTTHUMP00000024074;zinc finger protein 75;zinc finger protein 75D;zinc finger protein 82 APPROVED protein-coding ENSG00000186376 13145 02448 314997 REVIEWED 1604484 ZNF763 zinc finger protein 763 19 19 19 p13.2 11970248 11985589 + 11936869 11952214 + 12075869 12091214 + 14702039;12477932;1946370;1505991;23449627;22505724 284390 B4DRE7;F5H0A9;K7EJ80;K7EJF3;K7ESF6;Q0D2J5 ABBA01029817;AC008770;AK092240;AK299182;AK299224;AMYH01009488;BC105711;BC105712;BC105713;CH471106;M88364;NM_001012753 AAA61322;AAI05712;AAI05713;AAI05714;BAG52505;BAG61227;BAG61259;EAW84252;NP_001012771;Q0D2J5 Hs.646386 5121438 STS-N32752 ZNF;ZNF440L DNA-binding protein;OTTHUMP00000209874;OTTHUMP00000209875;zinc finger protein 440 like;zinc finger protein 763 protein-coding ENSG00000197054 27614 18509 VALIDATED 1346975 ZNF75A zinc finger protein 75a 16 16 16 p13.3 3561095 3574238 + 3295485 3308575 + 3355433 3368576 + 1580863;6480464 16344560;15489334;14702039;12477932;8661144;18029348;21832049 7627 I3L2I5;Q68CU0;Q96N20 ABBA01026739;AC004232;AC025283;AK056091;AK093979;AMYH01007092;BC039601;BC051366;BC119652;BC119653;BC150306;CH471112;CR749782;DB249528;NM_153028;X91826 AAH51366;AAI19653;AAI19654;BAB71092;CAA62935;CAH18648;EAW85374;EAW85375;EAW85376;EAW85377;NP_694573;Q96N20 Hs.513292 1687141;1689759;1754743;2120925;2129739;2158130;5016596;5020948;5109281;5118444 D11S3316;D1S1425;G35510;GDB:631802;RH45212;RH65204;RH69709;SHGC-133103;SHGC-60769;SHGC-64870 FLJ31529;MGC59959 OTTHUMP00000159717;zinc finger protein 75A protein-coding ENSG00000162086 13146 03278 601473 VALIDATED 1314742 ZNF76 zinc finger protein 76 6 6 6 p21.31 36781476 36817719 + 35335488 35371738 + 35227510 35263760 + 1580863;6480464 9705341;18391951;16522640;16337145;15489334;15280358;15231748;12477932;1427894;21145461;19423540;20406964;20438785;20546612;19322201;22505724 7629 E7EX64;F8W971;H7C513;P36508;Q5R3B9 AB208784;ABBA01038223;ABBA01038224;AK294605;AK295276;AK302903;AK310877;AMYH01016265;BC000133;BC002549;BT007316;CH471081;M91592;NM_003427;Z97832 AAA98739;AAH00133;AAH02549;AAP35980;BAD92021;BAG57792;BAG58260;BAH13837;EAX03814;EAX03815;EAX03816;EAX03817;EAX03818;EAX03819;EAX03820;NP_003418;P36508 Hs.388024 1644894;1721467 G59587;WIAF-2106 D6S229E;ZNF523;Zfp523 OTTHUMP00000016253;OTTHUMP00000215521;OTTHUMP00000215553;zinc finger protein 523;zinc finger protein 76;zinc finger protein 76 (expressed in testis) APPROVED protein-coding ENSG00000065029 13149 01929 194549 PROVISIONAL 1603831 ZNF761 zinc finger protein 761 19 19 19 q13.42 50976632 51002936 + 58644962 58653326 + 53935227 53961515 + 6480464 16344560;14702039;12477932;8889548;22505724 388561 Q6IQ01;Q86XN6 AB107355;ABBA01068215;AC022137;AK092652;AK131281;AMYH01009959;BC071639;BC103708;BM977910;DA237674;NM_001008401 AAH71639;BAC67660;BAD18456;NP_001008401;Q86XN6 Hs.433293 1775778;5015619;5022200;5038480 D11S3114;D19S398;L18426;RH70673 FLJ16231;FLJ35333;KIAA2033;MGC87789;ZNF468 zinc finger protein 468;zinc finger protein 761 protein-coding 23179 16912 VALIDATED 1606477 ZNF764 zinc finger protein 764 16 16 16 p11.2 29728768 29733325 + 30472586 30477085 - 30565085 30569642 - 6480464 16189514;15489334;14702039;12477932;19322201;22577170;20562864 92595 Q96H86 ABBA01042038;AC002310;AK093992;AMYH01007497;BC000016;BC008821;BF725095;CH471192;NM_001172679;NM_033410 AAH00016;AAH08821;ABZ92086;ADZ15930;BAG52794;EAW52237;EAW52238;NP_001166150;NP_219363;Q96H86 Hs.132227 1700106;2120764;5022578 D1S1423;RH103666;SHGC-36123 MGC13138 OTTHUMP00000163241;OTTHUMP00000163242;zinc finger protein 764 protein-coding ENSG00000169951 28200 10072 VALIDATED 1602446 ZNF765 zinc finger protein 765 19 19 19 q13.42 50939781 50956648 + 58590209 58607074 + 53898397 53915262 + 6480464 12477932;20379614;22505724 91661 D6RF03;E9PDE6;Q7L2R6 ABBA01068216;AC022137;AK293890;AK295840;AK316300;AMYH01009959;BC001610;BC017357;BC140724;BX647981;CD656338;CH471135;NM_001040185 AAI40725;ABZ92083;BAG57279;BAG58650;BAH14671;EAW72134;EAW72135;NP_001035275;Q7L2R6 Hs.685640 1718383;5037552;5096939 D8S2279;RH118661;RH122965 DKFZp686J2252 OTTHUMP00000223137;zinc finger protein 765 protein-coding ENSG00000196417 25092 14285 PROVISIONAL 1605317 ZNF766 zinc finger protein 766 19 19 19 q13.41 49822378 49845534 + 57464636 57487788 + 52772824 52795976 + 6480464 14702039;12477932;21890473;22505724 90321 G3XAE0;M0QXI4;M0R139;M0R1P9;M0R2P3;M0R2R1;Q5HY98 ABBA01068258;ABBA01068259;ABBA01068260;AC010320;AK022545;AK024074;AK024268;AK097729;AMYH01009954;BC109201;BC136833;BC136834;BX538183;BX648899;CH471135;NM_001010851 AAI09202;AAI36834;AAI36835;ACE86945;ACE87633;BAG53522;CAD98055;CAI45991;EAW72067;EAW72068;EAW72069;NP_001010851;Q5HY98 Hs.439662 1697794;2127249;5015861;5116670;7185938 D10S16;RH102421;SHGC-57756;sY3122 zinc finger protein 766 protein-coding ENSG00000196214 28063 14268 VALIDATED 1605951 ZNF768 zinc finger protein 768 16 16 16 p11.2 29760500 29763088 + 30442823 30445411 - 30535322 30537910 - 6480464 15302935;12477932;12107411;20211142;22990118;16196087;21139048;21906983;21900206;22505724 79724 H3BS42;Q9H5H4 ABBA01042034;AC002310;AK027089;AK295274;AK315449;AMYH01007497;BC013760;BC092403;BQ635980;CA423836;CH471192;NM_024671 AAH13760;AAH92403;BAB15652;BAG37837;BAH12023;EAW52241;EAW52242;NP_078947;Q9H5H4 Hs.85658 1699044 RH103096 FLJ23436 OTTHUMP00000163225;zinc finger protein 768 protein-coding ENSG00000169957 26273 08671 VALIDATED 1605335 ZNF767 zinc finger family member 767 7 7 7 q36.1 143913506 143991090 - 148875178 148952751 - 149244245 149321881 - 16344560;15489334;14702039;12975309;12853948;12477932;9847074;20379614;21833088 79970 Q6UVX0;Q75MW2 AACC02000041;ABBA01033635;AC004932;AK022762;AK124860;AK295771;AMYH01018122;AMYH01018123;AY359125;BC047675;CH471146;DA249066;DA418417;DC295958;NR_027788;NR_027789 AAH47675;AAQ89482;AAQ96876;BAB14233;BAH12184;EAL24433;EAW80038;EAW80039;EAW80040;Q75MW2 Hs.520785 1671821;1760337;1761511;1846714;2111087;2119168;2126371;2126434;2137383;2176166;2179677 D7S1395;D7S2349;D7S605E;G23225;GDB:4585138;GDB:4585513;RH45617;RH78816;SHGC-141850;SHGC-145516;WI-10719 FLJ12700;FLJ42870;MGC51818 pseudo ENSG00000133624 21884 07791 VALIDATED 1606077 ZNF772 zinc finger protein 772 19 19 19 q13.43 55024665 55032644 - 62672766 62680750 - 57980954 57988938 - 12477932;21890473 400720 C9J1S5;C9JFF8;M0R084;M0R156;Q68DY9 ABBA01020808;AC003005;AC004076;AK293825;AK294941;AK301562;AK302574;AMYH01010028;BC150292;BX647068;CR749225;NM_001024596;NM_001144068 AAI60024;BAG57229;BAG58017;BAG63057;BAG63832;CAH18081;NP_001019767;NP_001137540;Q68DY9 Hs.388810 2117331;5014051;5022200;5022578;5037552 D1S1423;D8S2278;D8S2279;L18426;SHGC-56934 DKFZp686I1569 OTTHUMP00000237544;OTTHUMP00000237547;OTTHUMP00000237548;OTTHUMP00000237549;zinc finger protein 772 protein-coding ENSG00000197128 33106 18624 VALIDATED 1346753 ZNF77 zinc finger protein 77 19 19 19 p13.3 2867356 2879033 - 2884216 2895930 - 2933216 2944969 - 1580863;6480464 16344560;15489334;12477932;8478004;18029348;17207965;19322201;22505724 58492 Q15935 ABBA01002778;AC006277;AC011559;AK290979;AL365370;AMYH01009294;AW450750;BC043354;BC062561;CH471139;DB104618;NM_021217;X65230 AAH43354;AAH62561;ADQ32082;BAF83668;CAA46337;CAB96946;EAW69354;NP_067040;Q15935 Hs.38004 1770101 RH78719 pT1 ZNFpT1;zinc finger protein 77 protein-coding ENSG00000175691 13150 08936 194551 VALIDATED 1606270 ZNF770 zinc finger protein 770 15 15 15 q14 12029884 12039839 - 33057836 33067746 - 35270542 35280497 - 6480464 15489334;14702039;12477932;16344560;19615732;19322201 54989 H0YM59;Q6IQ21 ABBA01038515;AC114546;AI031776;AI421027;AI890305;AK000589;AK127201;AK131433;AK291438;AMYH01006540;BC005188;BC035308;BC071603;BM454360;BQ921117;CD704851;CH471125;DA331762;NM_014106 AAH71603;BAA91274;BAD18579;BAF84127;EAW92324;NP_054825;Q6IQ21 Hs.5327 1769052;2133163;2141798;5015619;5037552 D11S3114;D15S951;D8S2279;RH46359;RH66164 FLJ20582;PRO1914 OTTHUMP00000160101;zinc finger protein 770 protein-coding ENSG00000198146 26061 16918 VALIDATED 1605390 ZNF771 zinc finger protein 771 16 16 p11.2 30326978 30338236 + 30418735 30429916 + 6480464 15489334;12477932 51333 B2R9V3;H3BRY2;I3L3L5;Q7L3S4 ABBA01042023;ABBA01042024;ABBA01042025;AC116348;AF242768;AK313930;AMYH01007497;BC011870;BC026192;BI599970;CS300734;NM_001142305;NM_016643 AAF65445;AAH11870;AAH26192;BAG36650;CAK32398;NP_001135777;NP_057727;Q7L3S4 Hs.148584 1686915;1737585 D16S2672;SHGC-61066 DSC43 mesenchymal stem cell protein DSC43;zinc finger protein 771 protein-coding ENSG00000179965 29653 14238 VALIDATED 1605527 ZNF773 zinc finger protein 773 19 19 19 q13.43 55054897 55063116 + 62703121 62711338 + 58011309 58019526 + 6480464 18029348;14702039;12477932;20562864;21890473 374928 M0QX16;M0QYZ8;Q6PK81 ABBA01020807;AC003005;AK057209;AK160372;AMYH01010028;BC005167;CH471135;NM_198542 AAH05167;ABZ92474;BAB71382;BAD18715;EAW72507;EAW72508;NP_940944;Q6PK81 Hs.579576 1723725 RH121433 FLJ00301;MGC4728;ZNF419B zinc finger protein 419B;zinc finger protein 773 protein-coding ENSG00000152439 30487 14655 PROVISIONAL 1606399 ZNF774 zinc finger protein 774 15 15 15 q26.1 67299816 67309053 + 88696481 88705719 + 90895477 90904715 + 16344560;15489334;12477932;17207965;22446963 342132 E7EQ77;H0YLG8;H0YNW6;Q6NX45 ABBA01053054;AC018946;AK289385;AMYH01006921;BC067279;CR749343;DA017564;NM_001004309 AAH67279;ADQ32667;BAF82074;CAH18196;NP_001004309;Q6NX45 Hs.55307 1680950;5015619;5022200;5022450 D10S275;D11S3114;L18426;RH66575 MGC75360 zinc finger protein 774 protein-coding 33108 17571 VALIDATED 1602053 ZNF776 zinc finger protein 776 19 19 19 q13.43 55301690 55313051 + 62954023 62961337 + 58258164 58269527 + 6480464 14702039;19913121;20628086;12477932 284309 B2RN90;B4DSC6;C9J7N9;H7C4D2;Q68DI1 ABBA01020802;AC003006;AI446541;AK095607;AK127764;AK299680;AMYH01010029;BC136752;BC136753;BX957217;CH471135;CR749390;CR936802;NM_173632 AAI36753;AAI36754;BAC04588;BAC87119;BAG61588;CAH18239;EAW72530;EAW72531;EAW72532;NP_775903;Q68DI1 Hs.720254;Hs.737521 1734714;2120002;2172321;2175428 D19S704E;G18046;RH46392;SHGC-24036 DKFZp686K10134;DKFZp781G1213;FLJ30886;FLJ38288 OTTHUMP00000211085;zinc finger protein 776 protein-coding ENSG00000152443 26765 08237 VALIDATED 1604021 ZNF777 zinc finger protein 777 7 7 7 q36.1 143797705 143827305 - 148759387 148788986 - 149128454 149158053 - 6480464 18029348;12477932;10574462;21906983 27153 Q9ULD5 AACC02000041;AB033111;ABBA01033631;ABBA01033632;AC073314;AK074515;AK075032;AMYH01018121;AMYH01018122;BC023985;BC105968;BX444270;CH471146;CQ783020;DR763452;NM_015694 AAH23985;AAI05969;BAA86599;BAC11033;BAC11364;CAF86227;EAL24432;EAW80044;NP_056509;Q9ULD5 Hs.38512 1658990;1757885;2148740 SHGC-146761;STS-R72865;WI-16287 KIAA1285 OTTHUMP00000213751;zinc finger protein 777 protein-coding ENSG00000196453 22213 13849 VALIDATED 1603510 ZNF775 zinc finger protein 775 7 7 7 q36.1 144633503 144652813 + 149707339 149726652 + 150076406 150095719 + 6480464 17081983;15489334;12477932;21900206 285971 C9JAM7;C9JVG2;Q96BV0 AACC02000108;ABBA01035185;ABBA01035186;ABBA01035187;ABBA01035188;ABBA01035189;AC005586;AC073111;AMYH01018139;AMYH01018140;AW402889;BC015152;BC038111;CH471173;DB472309;NM_173680 AAH15152;EAW54116;NP_775951;Q96BV0 Hs.655734 1771689;2165633;5106449 RH11671;RH47964;SHGC-57996 MGC33584 OTTHUMP00000212794;OTTHUMP00000212795;OTTHUMP00000212796;zinc finger protein 775 protein-coding ENSG00000196456 28501 14567 VALIDATED 1602429 ZNF780B zinc finger protein 780B 19 19 19 q13.2 37332535 37360483 - 45232104 45248079 - 40534167 40562115 - 6480464 15057824;14702039;12477932 163131 C9JTJ1;M0R0W9;M0R168;Q9Y6R6 ABBA01040738;AC005614;AC007842;AK122872;AK127063;AMYH01009794;BC136960;CB053507;CH471126;NM_001005851 AAD39268;AAI36961;EAW56932;EAW56933;EAW56934;EAW56935;NP_001005851;Q9Y6R6 Hs.101139 1680399;5016700;5037552;5117897 D8S2279;GDB:631813;RH79802;RH93974 ZNF779 OTTHUMP00000207266;zinc finger protein 779;zinc finger protein 780B protein-coding ENSG00000128000 33109 11243 VALIDATED 1604491 ZNF780A zinc finger protein 780A 19 19 19 q13.2 37373427 37395213 - 45272263 45280891 - 40575059 40596845 - 6480464 16344560;15057824;14702039;12477932;8889548 284323 M0QXV4;M0QYL2;O75290;Q05CQ7 ABBA01040738;AC005614;AI638558;AK091274;AK131328;AMYH01009795;AW243188;BC021982;BU685481;CH471126;DA436454;DA758840;DB097567;NM_001010880;NM_001142577;NM_001142578;NM_001142579 AAC34327;AAH21982;AAI56541;AAI72502;BAD18488;EAW56936;NP_001010880;NP_001136049;NP_001136050;NP_001136051;O75290 Hs.115140 1783800 SHGC-144867 ZNF780 OTTHUMP00000207267;zinc finger protein 780A protein-coding ENSG00000197782 27603 17336 VALIDATED 1605270 ZNF781 zinc finger protein 781 19 19 19 q13.12 34959196 34983751 - 42850490 42874992 - 38158650 38183216 - 6480464 12477932;16344560;22505724 163115 K7EM60;Q8N8C0 AA778692;ABBA01040631;ABBA01040632;ABBA01040633;AC093227;AK094868;AK097019;AMYH01009769;BC035681;BC108687;CH471126;DA479602;NM_152605 AAI08688;BAC04927;EAW56746;EAW56747;NP_689818;Q8N8C0 Hs.722657 5492877 UniSTS:483120 FLJ37549;MGC131783 zinc finger protein 781 protein-coding ENSG00000196381 26745 08225 VALIDATED 1604215 ZNF778 zinc finger protein 778 The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011] 16 16 16 q24.3 74349908 74361295 + 87811612 87822864 + 89284111 89295965 + 6480464 16344560;15489334;14702039;12477932;19920853;11181995;16751776;22505724 197320 H3BSD4;H3BUU4;Q96MU6 ABBA01014158;AC009113;AK056437;AMYH01007928;BC015872;BC125192;BC143524;CH471184;DA297948;DC324714;DQ583714;DR001516;NG_028146;NM_001201407;NM_182531;NR_037705 AAH15872;AAI25193;BAB71183;EAW66738;NP_001188336;NP_872337;Q96MU6 Hs.647385 1778115 SHGC-60778 FLJ31875;MGC150573 zinc finger protein 778 APPROVED protein-coding ENSG00000170100 26479 08111 REVIEWED 2304142 ZNF788 zinc finger family member 788 19 19 19 p13.2 12097465 12119880 + 12068239 12086666 + 12203078 12225493 + 6480464 20125193 388507 L7N485;M0R3I2;Q6ZQV5 ABBA01029809;AC022415;AI478464;AK128282;AK128700;AMYH01009489;NR_027049 BAC87366;BAC87578;Q6ZQV5 Hs.127473 5022200 L18426 FLJ46419;FLJ46867 pseudo 33112 17002 VALIDATED 1603891 ZNF782 zinc finger protein 782 9 9 9 q22.33 70020598 70057714 - 98619094 98656210 - 99579273 99616389 - 6480464 18029348;19030899;14702039;12477932;22505724 158431 C9J9Y8;F8WEU9;G3V1K9;H0Y892;Q6ZMW2 ABBA01043570;AK131468;AK302460;AL158827;AMYH01021548;BC137073;CH471174;NM_001001662 AAI37074;BAD18613;BAG63751;EAW92667;EAW92668;NP_001001662;Q6ZMW2 Hs.732126 1683797;1704508;2141757 RH99219;SHGC-83022;STS-N35244 FLJ16636 OTTHUMP00000216169;OTTHUMP00000216170;zinc finger protein 782 protein-coding 33110 16914 PROVISIONAL 1344887 ZNF78L1 zinc finger protein 78-like 1 (pT3) 8478004 7631 Q15936 13151 1346008 ZNF78L2 zinc finger protein 78-like 2 (pT3) 8478004 7632 13152 4140607 ZNF783 zinc finger family member 783 7 q36.1 148959262 148982085 + 6480464 11181995;9847074;12477932;14702039;19413330;8619474;9110174 100289678 C9J9J2;E7ENX7;F8WF09;Q6ZMS7 AACC02000041;ABBA01033628;ABBA01033629;AC004890;AK022976;AL359620;AMYH01018119;BG029497;BX361979;CH471146;NM_001195220 EAW80046;EAW80047;EAW80048;EAW80049;EAW80050;NP_001182149;Q6ZMS7 Hs.490512 1774922;2169477;5015861;5037552;7185938 A005V39;D10S16;D8S2279;WI-18584 DKFZp762P2111;FLJ12914;FLJ16713 OTTHUMP00000213757;protein ZNF783 protein-coding ENSG00000204946 27222 PROVISIONAL 1602066 ZNF784 zinc finger protein 784 19 19 19 q13.42 53174394 53178228 - 60823919 60827753 - 56132107 56135941 - 6480464 15489334;14702039;12477932;21900206 147808 K7EQ92;Q8NCA9 ABBA01020862;AC008735;AF086055;AK074859;AMYH01010004;BC065822;CH471135;CQ782822;NM_203374 AAH65822;BAC11251;CAF86050;EAW72395;EAW72396;EAW72397;NP_976308;Q8NCA9 Hs.53996 1776383 RH78977 MGC75238 zinc finger protein 784 protein-coding ENSG00000179922 33111 14076 VALIDATED 1603274 ZNF787 zinc finger protein 787 19 19 19 q13.43 53643037 53676872 - 61290544 61324461 - 56598732 56632649 - 6480464 12477932;23182705;23151878;23667531;15717329 126208 K7EKJ5;M0R0X7;Q6DD87 ABBA01020841;ABBA01020842;ABBA01020843;ABBA01151612;AC024580;AF000560;AMYH01010015;AMYH01010016;BC012495;BC037737;BC058034;BC077728;CH471135;NM_001002836 AAB58413;AAH77728;EAW72423;NP_001002836;Q6DD87 Hs.397153 2131842 RH66150 TIP20 TTF-I interacting peptide 20;TTF-I-interacting peptide 20;transcription termination factor I interacting peptide 20;zinc finger protein 787 protein-coding ENSG00000142409 26998 14032 VALIDATED 1604748 ZNF786 zinc finger protein 786 7 7 7 q36.1 143437217 143458210 - 148397513 148418720 - 148766733 148787869 - 6480464 16381901;16344560;15489336;12477932;11256614;11230166;11076863 136051 B4DMI1;H7BXP3;Q8N393 AACC02000041;ABBA01033615;ABBA01033616;ABBA01033617;AC073422;AK095701;AK297472;AL834510;AMYH01018116;BC109245;BC128392;BX647929;CH471146;DB316299;DB453090;NM_152411 AAI09246;AAI28393;BAG59893;CAD39166;CAI46083;CAL37751;CAL37799;EAL24426;EAW80062;EAW80063;EAW80064;NP_689624;Q8N393 Hs.729572 DKFZp762I137;MGC156120 OTTHUMP00000213783;zinc finger protein 786 protein-coding ENSG00000197362 21806 13232 VALIDATED 6766559 ZNF790-AS1 ZNF790 antisense RNA 1 19 q13.13 37288452 37319013 + 14702039 284408 ABBA01016192;ABBA01016193;ABBA01016194;ABBA01016195;AC020928;AK094324;AMYH01009752;AMYH01009753;BM467896;BM476885;BX394102;NR_040027;NR_040028 Hs.570010 1654974;5014051 D8S2278;G09801 APPROVED miscrna ENSG00000267254 27617 VALIDATED 1603509 ZNF789 zinc finger protein 789 7 7 7 q22.1 93804713 93819415 + 98908451 98923153 + 99070515 99085217 + 6480464 16341674;14702039;12690205;12477932;19850743 285989 C9J3R7;C9J487;C9JUE3;F8WEN0;Q5FWF6 AACC02000084;ABBA01013259;ABBA01013260;AC073063;AK093141;AK131429;AK309467;AMYH01017721;BC031249;BC050286;BC089424;BI767175;BM840763;BX648360;CH236956;CH471091;NM_001013258;NM_213603 AAH89424;BAD18576;EAL23875;EAL23876;EAW76660;NP_001013276;NP_998768;Q5FWF6 Hs.440384 5014029;5014740;5015619;5016478;5016596;5021872;5022425;5022463;5024756;5037552;5118444;5493643 D11S3114;D11S3316;D13S1639;D17S610;D22S296;D3S1673;D8S2279;GDB:434012;GDB:631802;RH80030;UniSTS:490087;sY3084 OTTHUMP00000206245;OTTHUMP00000214545;zinc finger protein 789 protein-coding ENSG00000198556 27801 14161 VALIDATED 1602069 ZNF785 zinc finger protein 785 16 16 16 p11.2 29701399 29706415 + 30499495 30504511 - 30591994 30597092 - 6480464 15489334;14702039;12477932;10493829;15146197 146540 A8K8V0;H3BR67;I3L119 ABBA01042041;AC002310;AK056692;AK292465;AK298848;AK309511;AMYH01007497;BC040642;CH471192;CN401082;NM_152458 A8K8V0;AAC31673;AAH40642;ABZ92105;BAB71256;BAF85154;BAG60973;EAW52229;EAW52230;EAW52231;EAW52232;NP_689671 Hs.513509 1681989;1683066;1783438;5014051;5015619;5015879;5022450;5109281 D10S275;D11S3114;D1S1425;D8S2278;GDB:314949;RH67802;RH93512;SHGC-171812 FLJ32130 OTTHUMP00000163231;OTTHUMP00000212926;zinc finger protein 785 protein-coding ENSG00000197162 26496 08120 VALIDATED 1602030 ZNF793 zinc finger protein 793 19 19 19 q13.12 34798536 34834930 + 42689681 42726079 + 37997841 38034239 + 6480464 16344560;8889548 390927 K7EL37;K7EMH8;K7EMU0;K7EN11;K7EQP3;K7ERJ7;Q6ZN11 ABBA01040629;ABBA01040630;AC022148;AK131417;AK303740;AMYH01009768;BC150303;BE219465;BU683546;BX537524;CH471126;DB180171;NM_001013659 BAD18564;BAG64713;CAD97772;EAW56733;EAW56734;NP_001013681;Q6ZN11 Hs.568010 1690167;5014051;5015619;5016478;5017266;5022200;5022450;5022578;5022651;5024039;5037552;5118444 D10S275;D11S2921;D11S3114;D11S3316;D16S325;D1S1423;D8S2278;D8S2279;GDB:434012;L18426;L18506;RH92678 zinc finger protein 793 protein-coding 33115 18402 VALIDATED 1605566 ZNF791 zinc finger protein 791 19 19 19 p13.2 12611456 12630402 + 12582753 12601676 + 12721732 12740676 + 6480464 15342556;12477932;21139048 163049 B7Z586;C9JU55;F5GXD7;M0QYQ0;M0R0E8;M0R2N1;Q3KP31 ABBA01029786;ABBA01029787;ABBA01029788;AC010422;AK074877;AK297715;AK298597;AK307775;AMYH01009492;AMYH01009493;BC106937;BC106938;BP319293;CH471106;CQ783985;DC329382;NM_153358 AAI06938;AAI06939;ABZ92117;BAC11261;BAH12653;BAH12822;CAF86957;EAW84278;NP_699189;Q3KP31 Hs.720677 5037552 D8S2279 FLJ90396;MGC126179;MGC126180 OTTHUMP00000209864;OTTHUMP00000209865;zinc finger protein 791 protein-coding ENSG00000173875 26895 08295 VALIDATED 1350135 ZNF79 zinc finger protein 79 9 9 9 q34 100837528 100858526 + 129226482 129247471 + 130186653 130207651 + 1580863;6480464 15489334;15342556;15164053;14702039;12477932;10567577;9380504;8478004;8262519;19851296;20198315;22505724 7633 F5H032;Q15937 ABBA01043833;AI301044;AK054606;AK302284;AK316233;AL445222;AMYH01021726;BC062309;BP351823;CH471090;DC378814;NM_007135;X65232 AAH62309;ABZ92252;BAB70771;BAG63627;BAH14604;CAA46339;EAW87665;NP_009066;Q15937 Hs.522399 1341354;1658875;2169940 D9S1819;SHGC-33761;STS-T94329 pT7 OTTHUMP00000022185;ZNFpT7;zinc finger protein 79 protein-coding ENSG00000196152 13153 01931;01934 194552 VALIDATED 1603835 ZNF790 zinc finger protein 790 19 19 19 q13.12 34092627 34113574 - 42000170 42021124 - 37309224 37341689 - 6480464 16344560;15489334;12477932;17207965;21044950 388536 B4DMI3;E9PL27;E9PQ03;E9PRR6;K7EQ58;Q6PG37 ABBA01016192;ABBA01016193;ABBA01016194;AC008733;AC020928;AI808437;AK297474;AMYH01009753;AMYH01009754;BC057245;BF132049;BM473790;DA819130;DC307556;DC308617;DC324605;DC352882;DC377558;EL735861;NM_001242800;NM_001242801;NM_001242802;NM_206894 AAH57245;BAG59895;NP_001229729;NP_001229730;NP_001229731;NP_996777;Q6PG37 Hs.282067;Hs.734830 1654974;1734656 D19S657E;G09801 FLJ20350;MGC62100 OTTHUMP00000230463;OTTHUMP00000230464;OTTHUMP00000230465;OTTHUMP00000230466;zinc finger protein 790 protein-coding 33114 17566 VALIDATED 1350909 ZNF80 zinc finger protein 80 3 3 3 q13.3 112361481 112364428 - 115436168 115439115 - 113953478 113956425 - 1580863;6480464 12477932;8478004;7659503;22145905;22318606 7634 P51504 ABBA01061638;AC093010;AMYH01013398;BC069606;BC069826;BC129925;CA420107;CH471052;NM_007136;X65233 AAH69606;AAH69826;AAI29926;CAA46340;EAW79603;NP_009067;P51504 Hs.271079;Hs.724900 2130466;5014794;5114018;5492621;5493445 D3S4164;G15971;RH80238;UniSTS:481823;UniSTS:486332 pT17 OTTHUMP00000214908;ZNFPT17;zinc finger protein 80 protein-coding ENSG00000174255 13155 01932 194553 VALIDATED 1606468 ZNF792 zinc finger protein 792 19 19 19 q13.11 32160591 32168286 - 40139098 40146793 - 35447258 35454953 - 6480464 16344560;12477932;8889548;20379614;16712791 126375 Q3KQV3 ABBA01018727;AC008555;AK095770;AK130901;AK304550;AL517807;AMYH01009722;BC101118;BC101119;BC101120;BC106043;BU428746;BU686719;CB108971;DB257726;NM_175872;W18184 AAI01119;AAI01120;AAI01121;BAG65345;NP_787068;Q3KQV3 Hs.50405 1646706;1734676;2156848 D19S682E;SHGC-64867;WI-22285 FLJ38451;MGC117233;MGC119731 OTTHUMP00000197099;zinc finger protein 792 protein-coding ENSG00000180884 24751 13430 VALIDATED 1626191 ZNF806 zinc finger protein 806 2 2 q21.2 132783352 132792779 + 133062580 133076309 + 14702039 646915 P0C7X5 ABBA01028219;ABBA01028220;AC097532;AMYH01011109;XM_001724242;XM_002345581;XM_003960310 P0C7X5;XP_001724294;XP_002345622;XP_003960359 2126127 D2S2051 zinc finger protein 806 protein-coding 33228 MODEL 2292083 ZNF807P zinc finger protein 807 (pseudogene) 19 19 19 q13.11 31745001 31748700 - 39725198 39759506 - 35032596 35036295 - 100129800 AC008747;NG_011972 1715443 RH120860 ZNF181P1;ZNF807 pseudo 33229 1321682 ZNF8 zinc finger protein 8 19 19 19 q13.43 55834184 55851131 + 63482130 63499066 + 58790318 58807254 + 1580863;6480464 2106481;16964243;15489334;14702039;12477932;12370310;8125298;20562864;20360068;21549307;21888893 7554 B3KS94;P17098 ABBA01020774;ABBA01020775;AC020915;AK093110;AK225825;AK299716;AMYH01010033;AMYH01010034;BC039323;CH471135;M29581;NM_021089 AAA61314;AAH39323;ABZ92246;ADZ15584;BAG52656;BAG61616;EAW72570;NP_066575;P17098 Hs.590941;Hs.713519 1646954;1661177;2218694 D19S989;RH66637;ZNF8__4721 HF.18;Zfp128 zinc finger protein 272;zinc finger protein 8;zinc finger protein 8 (clone HF.18);zinc finger protein HF.18 protein-coding ENSG00000083842 13154 01919 194532 VALIDATED 1604764 ZNF799 zinc finger protein 799 19 19 19 p13.2 12394655 12405914 - 12361830 12373034 - 12500828 12512088 - 6480464 16344560;15489334;14702039;12477932;22505724 90576 D3YTF2;M0R0E1;Q96GE5 ABBA01029799;AC008758;AK027660;AL832890;AMYH01009490;BC009517;CB988846;CH471106;DB198205;NM_001080821 AAH09517;EAW84271;NP_001074290;Q96GE5 Hs.546637 HIT-40;MGC71805;ZNF842 OTTHUMP00000209843;OTTHUMP00000209844;protein for MGC71805;zinc finger protein 14;zinc finger protein 799;zinc finger protein 842;zinc finger protein HIT-40 protein-coding ENSG00000196466 28071 VALIDATED 1625646 ZNF812 zinc finger protein 812 19 19 19 p13.2 9695796 9706929 - 9661814 9667794 - 9800814 9811493 - 729648 K7EK89;K7EN74;P0C7V5 ABBA01029968;ABBA01029969;AC008759;AK296815;AMYH01009461;CH471106;NM_001199814 BAG59388;EAW84048;NP_001186743;P0C7V5 Hs.626848 1335579;1771691;2165520 D19S586;D19S717;RH66058 OTTHUMP00000237124;putative zinc finger protein 812 protein-coding ENSG00000224689 33242 PROVISIONAL 1349576 ZNF804A zinc finger protein 804A 2 2 q32.1 185171338 185512459 + 185463093 185804214 + 6480464 20458322;22775511;21876541;22080834;22373944;19407193;18677311;16713569;14702039;12970790;12477932;9110174;8619474;19844207;20048749;20231838;20368704;20379614;20688871;21988329;20862696;20934520;20946959;21040459;20538430;20603450;20664580;20957649;22871346;23351715;21349497;21457757;23212061;21767209;21810628;21525856;21663974;21890790;22887939;21993378;21911029;22384243;22779921;21892778;22328493;22948380;22840435;22042765;23147122;23251661;23453885;22781169;22945618;23010486 91752 Q7Z570 ABBA01062321;ABBA01062322;ABBA01062323;ABBA01062324;AC010747;AC096667;AC112720;AF052145;AK055275;AK127762;AK131402;AK295280;AK307596;AMYH01011323;AMYH01011324;AY327407;BC136602;BC142612;BC150198;CH471058;NM_194250 AAI36603;AAI42613;AAI50199;AAP92799;BAD18549;BAG58264;EAX10945;EAX10946;NP_919226;Q7Z570 Hs.159528 1648089;1650202;1718767;1720753;1739273;1771546;1772089;1772091;2113908;2149786;2177842 A006A40;AB049867;D2S1300;D2S1798;D2S1932E;G05495;G20662;G59350;RH123074;RH48028;RH66239 C2orf10 OTTHUMP00000163464;zinc finger protein 804A protein-coding ENSG00000170396 21711 12804 612282 PROVISIONAL 1601814 ZNF804B zinc finger protein 804B 7 7 7 q21.13 83093566 83671109 + 88226689 88804282 + 88388753 88966346 + 14702039;9847074;12477932;20379614;20547088;21079607;20966902;18029348;22493691;23259602;23382691 219578 A4D1E1 AACC02000015;ABBA01045853;ABBA01045854;ABBA01045855;ABBA01045856;ABBA01045857;ABBA01045858;AC002068;AC002127;AC002382;AC004015;AC004746;AC006350;AC074253;AC079744;AK056672;AMYH01017673;AMYH01017674;AY295769;BC140826;BC140829;CH236949;CH471091;NM_181646 A4D1E1;AAI40827;AAI40830;AAP49447;BAB71248;EAL24168;EAW76900;NP_857597 Hs.684410 1299976;1649343;1696856;1696858;1714213;1715257;1723277;2117827;2133262;2141790;2167233;2172732;2177546;7184958 D7S630;FB3G7;G49172;G49173;GDB:1317430;GDB:1317484;GDB:1318020;GDB:1318032;GDB:1318581;RH119717;RH119879;RH12139;RH122328 FLJ32110 OTTHUMP00000161666;zinc finger 804B;zinc finger protein 804B protein-coding ENSG00000182348 21958 08721 PROVISIONAL 1604434 ZNF805 zinc finger protein 805 19 19 19 q13.43 54795338 54817394 + 62444072 62458318 + 57752053 57774106 + 6480464 12477932;18821565 390980 Q5CZA5 ABBA01020814;AC005261;AF024708;AK297977;AMYH01010027;BC140786;CR936617;NM_001023563;NM_001145078 AAB81098;AAI40787;BAG60287;CAI56760;NP_001018857;NP_001138550;Q5CZA5 Hs.22488 1661968;1695006;5015619;5015861;5016478;5022578;5022651;5037552;7185938 D10S16;D11S2921;D11S3114;D1S1423;D8S2279;G44716;GDB:434012;STS-N91528 DKFZp686P08106 zinc finger protein 805 protein-coding 23272 18617 VALIDATED 1604428 ZNF815P zinc finger protein 815, pseudogene 7 7 7 p22.1 5822384 5853633 + 5829273 5860294 + 5862791 5894066 + 14702039;23382691 401303 A8K554 ABBA01039480;ABBA01039481;ABBA01039482;AC004983;AC008167;AK096288;AK291169;AMYH01017007;AMYH01017008;AMYH01017009;NR_023382 BAF83858 Hs.372707 1645645;1786404;2152715;2164505 D4S3184;D7S1452;GDB:1317376;SHGC-171979 FLJ38969;ZNF815 APPROVED pseudo ENSG00000235944 22029 VALIDATED 1603586 ZNF813 zinc finger protein 813 19 19 19 q13.42 51012425 51038989 + 58662801 58689358 + 53970989 53997546 + 6480464 16344560;14702039;20379614;22505724 126017 C9JZ01;E7EU70;Q6ZN06 ABBA01068214;ABBA01068215;AC022137;AK091460;AK131422;AMYH01009959;AMYH01009960;CH471135;DB066632;DB235327;DR006226;NM_001004301 BAD18569;EAW72143;NP_001004301;Q6ZN06 Hs.710780 1803806 ECD02812 FLJ16542;FLJ34141 OTTHUMP00000212769;OTTHUMP00000212771;zinc finger protein 813 protein-coding 33257 13367 VALIDATED 1625098 ZNF816B zinc finger protein 816B 19 q13.41 57847611 57885574 - 729840 AC022150;XM_001127292;XM_001131483 XP_001127292;XP_001131483 Hs.467210 protein-coding 33266 1604435 ZNF818P zinc finger protein 818, pseudogene 19 19 19 q13.42 50758128 50761248 + 58388261 58408668 + 53716227 53719347 + 10737800 390963 Q6ZRF7 ABBA01068219;ABBA01068220;AC092070;AK128250;AMYH01009958;BF908632;BG759674;GD137562;NR_073396 BAC87353;Q6ZRF7 Hs.444446 1698582;1753343;5016596;5024756 GDB:631802;RH102843;RH80030;SHGC-107211 FLJ46385;ZNF818 APPROVED pseudo 33265 13537 VALIDATED 1603832 ZNF808 zinc finger protein 808 19 19 19 q13.41 50080840 50110167 + 57722721 57751115 + 53030909 53059303 + 6480464 16344560;12477932;22505724 388558 C9IZE3;C9J0J5;C9J871;C9JVX0;Q8N4W9 ABBA01068249;AC022150;AMYH01009956;BC017109;BC033230;BC130351;BC130353;CH471135;CR749856;DA094254;DW462787;FJ795029;NM_001039886 AAH17109;AAH33230;AAI30352;AAI30354;ACO37641;CAH18701;EAW72084;NP_001034975;Q8N4W9 Hs.729294 1762203;2128923;5024756;5024761;5038480 RH36905;RH48095;RH70673;RH80030;SHGC-146080 OTTHUMP00000212686;OTTHUMP00000212697;OTTHUMP00000212698;OTTHUMP00000212699;zinc finger protein 808 protein-coding ENSG00000198482 33230 VALIDATED 1603887 ZNF800 zinc finger protein 800 7 7 7 q31.33 121814067 121836470 - 126797589 126820003 - 127010353 127032767 - 6480464 17567994;14702039;12477932;21139048;19322201 168850 C9JHX9;C9JLY3;C9K0M9;Q2TB10;Q49A13;Q4G0T8 AACC02000001;ABBA01057684;AC000127;AF218032;AK125291;AK297946;AK309674;AMYH01017910;AMYH01017911;BC037348;BC047641;BC110623;BC110624;CH236947;CH471070;DQ655936;NM_176814 AAG17274;AAH37348;AAH47641;AAI10624;AAI10625;BAH12693;EAW83625;EAW83626;EAW83627;NP_789784;Q2TB10 Hs.159006 1338527;1689512;1714895;1798468;1801200;1803772;1804078;1804304;1804408;1806968;1811250;1814572;1814706;1814870;1815902;1818676;1818746;1820558;1822912;1825068;1825374;1828692;1828694;1830850;1831176;1831576;1831826;1832308;1834406;1836534;1838164;1841878;2087000;2087002;2087004;2087006;2087008;2087010;2087012;2087014;2087016;2087018;2087020;2087022;2087024;2087026;2087028;2087030;2087032;2087034;2087036;2087038;2087040;2087042;2087044;2087046;2087048;2087050;2087052;2087054;2087056;2087058;2087060;2087062;2087064;2087066;2087068;2087070;2087072;2087074;2087076;2087078;2087080;2087082;2087084;2087086;2087088;2087090;2087092;2087094;2087096;2087098;2087100;2087102;2087104;2087106;2087108;2087110;2087112;2087114;2087116;2087118;2087120;2087122;2087124;2087126;2087128;2087130;2087132;2087134;2087136;2087138;2087140;2087142;2087144;2087146;2087148;2087150;2087152;2087154;2087156;2087158;2087160;2087162;2087164;2087166;2087168;2087170;2087172;2087174;2087176;2087178;2087180;2087182;2087184;2087186;2087188;2087190;2087192;2087194;2087196;2087198;2087200;2087202;2087204;2087206;2087208;2087210;2087212;2087214;2087216;2087218;2087220;2087222;2087224;2123147;2196674;2196676;2196678;2196680;2196682;2196684;2196686;2196688;2196690;2196692;2196694;2196696;2196698;2196700;2196702;2196704;2196706;7185293;7185415 D7S2186;D7S514;ECD00071;ECD01472;ECD02793;ECD02956;ECD03076;ECD03128;ECD04449;ECD06623;ECD08316;ECD08384;ECD08466;ECD08991;ECD10402;ECD10437;ECD11354;ECD12544;ECD13635;ECD13793;ECD15473;ECD15474;ECD16561;ECD16724;ECD16925;ECD17051;ECD17293;ECD18351;ECD19431;ECD20254;ECD22141;REN114757;REN114758;REN114759;REN114760;REN114761;REN114762;REN114763;REN114764;REN114765;REN114766;REN114767;REN114768;REN114769;REN114770;REN114771;REN114772;REN114773;REN114774;REN114775;REN114776;REN114777;REN114778;REN114779;REN114780;REN114781;REN114782;REN114783;REN114784;REN114785;REN114786;REN114787;REN114788;REN114789;REN114790;REN114791;REN114792;REN114793;REN114794;REN114795;REN114796;REN114797;REN114798;REN114799;REN114800;REN114801;REN114802;REN114803;REN114804;REN114805;REN114806;REN114807;REN114808;REN114809;REN114810;REN114811;REN114812;REN114813;REN114814;REN114815;REN114816;REN114817;REN114818;REN114819;REN114820;REN114821;REN114822;REN114823;REN114824;REN114825;REN114826;REN114827;REN114828;REN114829;REN114830;REN114831;REN114832;REN114833;REN114834;REN114835;REN114836;REN114837;REN114838;REN114839;REN114840;REN114841;REN114842;REN114843;REN114844;REN114845;REN114846;REN114847;REN114848;REN114849;REN114850;REN114851;REN114852;REN114853;REN114854;REN114855;REN114856;REN114857;REN114858;REN114859;REN114860;REN114861;REN114862;REN114863;REN114864;REN114865;REN114866;REN114867;REN114868;REN114869;RH120442;RH93274;stSG613588;stSG613589;stSG613590;stSG613591;stSG613592;stSG613593;stSG613594;stSG613596;stSG613597;stSG613598;stSG613599;stSG613600;stSG613601;stSG613602;stSG613603;stSG613604;stSG613607 FLJ43301;MGC130032;MGC130033 OTTHUMP00000025074;OTTHUMP00000069088;OTTHUMP00000069089;OTTHUMP00000069090;OTTHUMP00000192889;zinc finger protein 800 protein-coding ENSG00000048405 27267 14112 VALIDATED 1349324 ZNF81 zinc finger protein 81 This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause mental retardation X-linked type 45 (MRX45). [provided by RefSeq, May 2010] X X p11.23 47581245 47666554 + 47696301 47781655 + 1580863;6480464;7240710 8507979;15121780;14702039;12477932;10398246;16344560;8088786;8088799;8088827;8530079;8938429 347344 B1AJV1;B1AJV2;P51508 ABBA01052409;ABBA01052410;ABBA01052411;ABBA01052412;AK126339;AK126949;AL022578;AL591394;AMYH01022266;AY487248;BC039609;BC111389;CH471164;DA219953;DA316311;DR002896;NG_021266;NM_007137;X68011;Z98304 AAI48629;AAS17752;BAC86759;CAA48148;EAW59332;EAW59333;NP_009068;P51508 Hs.114246 1648714;1674003;1855177;2134169;2135040;2154325;2178450;2218692 AL023610;AL023619;RH16348;RH65534;RH66794;SHGC-35116;STS-N34520;ZNF81__4722 FLJ44367;HFZ20;MRX45;dJ54B20.6 OTTHUMP00000023234;OTTHUMP00000064759;zinc finger protein 81;zinc finger protein 81 (hfz20) APPROVED protein-coding ENSG00000197779 13156 300498;314998 REVIEWED 5013859 ZNF816-ZNF321P ZNF816-ZNF321P readthrough This locus represents naturally occurring read-through transcription between the zinc finger protein 816 (ZNF816) gene and the zinc finger protein 321 (ZNF321) pseudogene on chromosome 19. The read-through transcript encodes a KRAB domain-containing protein that shares sequence identity with the upstream gene product, but it contains a distinct C-terminus encoded by exon structure from the downstream pseudogene. [provided by RefSeq, Jan 2011] 19 q 53430388 53466164 - 14702039;15489334;16344560;17974005;20967262 100529240 Q8N8H1 ABBA01068230;ABBA01068231;AC010328;AC010487;AK316503;AMYH01009957;CR749224;DB207639;NM_001202473 BAH14874;CAH18080;NP_001189402 Hs.735625 5015959;5024035;5106800;5117897 D10S2448;D13S116;GDB:631813;STS-U09414 DKFZp781C2298;FLJ79402;ZNF816-ZNF321 OTTHUMP00000236766;ZNF816-ZNF321 protein;ZNF816-ZNF321 read-through transcript;ZNF816-ZNF321 readthrough APPROVED protein-coding 38879 VALIDATED 1604241 ZNF816 zinc finger protein 816 19 19 19 q13.41 50500194 50513676 - 58144444 58157926 - 53452632 53466164 - 6480464 12477932;16344560;20953187;22505724 125893 F5GXJ3;I3L0H5;M0QY99;M0QZX7;M0R0G1;Q0VGE8 AA884369;ABBA01068230;AC010328;AC010487;AK291990;AL713804;AMYH01009957;BC063805;BC105739;BC105740;BC105930;CH471135;DA473052;NM_001031665;NM_001202456;NM_001202457 AAI05740;AAI05741;AAI05931;BAF84679;CAH56373;EAW72106;EAW72107;NP_001026835;NP_001189385;NP_001189386;Q0VGE8 Hs.655592 1684178;2179120 RH93828;STS-T63342 MGC125619;ZNF816A OTTHUMP00000236768;OTTHUMP00000236769;OTTHUMP00000236770;zinc finger protein 816;zinc finger protein 816A APPROVED protein-coding ENSG00000180257 26995 18722 VALIDATED 1606076 ZNF814 zinc finger protein 814 19 19 19 q13.43 55424234 55443924 - 63072131 63092226 - 58380747 58400442 - 6480464 16344560;15057824;14702039;12477932 730051 B7Z6K7;M0QY74;M0QYA7;M0QYL6;M0QZ45;M0QZ64;M0QZS8;M0R066;M0R0R0 ABBA01020795;ABBA01020796;AC010326;AF086563;AK022663;AK091350;AK096401;AK300483;AMYH01010030;BC056684;CH471135;DA017534;NM_001144989 B7Z6K7;BAH13293;EAW72539;NP_001138461 Hs.634143;Hs.733810 1701524;2121180;5015861;5017266;5022200;5022578;5022651;5037552;7185938 D10S16;D11S2921;D1S1423;D8S2279;L18426;L18506;RH104395;STS-N33228 FLJ39082 Putative zinc finger LOC730051;putative uncharacterized zinc finger protein 814;putative zinc finger protein LOC730051 protein-coding 33258 VALIDATED 2307387 ZNF823 zinc finger protein 823 19 19 19 p13.2 11726534 11744213 - 11693080 11710760 - 11832080 11849760 - 6480464 16344560;12477932;20936779;22505724 55552 B7Z8D4;C9J2N8;C9JU45;K7EN93;P16415 ABBA01029826;ABBA01029827;AC008543;AK300579;AK303213;AK308189;AMYH01009488;BC052597;BC063560;CH471106;DA880101;NM_001080493;X51760 AAH52597;AAH63560;BAG62278;BAH13920;CAA36064;EAW84239;NP_001073962;P16415 Hs.142167 1712100 G54099 HSZFP36 OTTHUMP00000210066;OTTHUMP00000210067;ZFP 36 for a zinc finger protein;ZFP-36 for a zinc finger protein;zinc finger protein 823;zinc finger protein ZFP-36 protein-coding ENSG00000197933 30936 VALIDATED 1604613 ZNF821 zinc finger protein 821 This gene encodes a protein with two C2H2 zinc finger motifs and a score-and-three (23)-amino acid peptide repeat (STPR) domain. The STPR domain of the encoded protein binds to double stranded DNA and may also contain a nuclear localization signal, suggesting that this protein interacts with chromosomal DNA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] 16 16 16 q22.2 56207508 56231334 - 70451089 70474913 - 71893583 71918093 - 6480464 16189514;12477932;9110174;8619474;20379614;16344560;20795678;17207965 55565 H3BPS7;H3BQE4;H3BR59;H3BR75;H3BRD6;H3BS68;H3BTZ4;H3BVG7;O75541 ABBA01016789;ABBA01016790;AC009127;AC010653;AF070588;AK131336;AK296603;AK313693;AL538838;AMYH01007792;BC004563;BC012116;BC091492;CH471166;DA324992;NM_001201552;NM_001201553;NM_001201554;NM_001201556;NM_017530 AAC28648;AAH12116;ADQ32310;BAG59216;EAW59210;EAW59211;EAW59212;EAW59213;EAW59214;EAW59215;EAW59216;EAW59217;EAW59218;EAW59219;NP_001188481;NP_001188482;NP_001188483;NP_001188485;NP_060000;O75541 Hs.744055 1673239;1676990;5014051;5015619;5015861;5016596;5016700;5037552;7185938 D10S16;D11S3114;D16S2943;D8S2278;D8S2279;GDB:631802;RH15633;RH79802 FLJ16350 zinc finger protein 821 APPROVED protein-coding ENSG00000102984 28043 14244 REVIEWED 2289737 ZNF826P zinc finger protein 826, pseudogene 19 19 19 p12 20415558 20441847 - 20367763 20399602 - 20578626 20607771 - 6480464 12477932;8889548;15146197;16344560 664701 Q6ZT77;Q8WVI3 AC008554;BC016785;BC017970;BC022411;BC036006;BM678443;CN429809;DA183158;NR_036455 AAH17970;AAH22411;Q6ZT77 Hs.631635;Hs.732997 1666216;1783854 RH65402;SHGC-81051 FLJ44894;ZNF826 zinc finger protein 826 APPROVED pseudo 33875 VALIDATED 3378722 ZNF834 zinc finger protein 834 q11.2 441955 AL163202 CAB90395;Q9NSJ1 PRED65;zinc finger protein 834 protein-coding 34331 1602312 ZNF835 zinc finger protein 835 19 19 19 q13.43 54217623 54226916 - 61866765 61876058 - 57174020 57183123 - 14702039 90485 M0QYX0;Q9Y2P0 ABBA01020830;AC007228;AK023017;AK299565;AMYH01010021;CH471135;DB536138;DC382896;NM_001005850 AAD23609;BAH13066;EAW72470;NP_001005850;Q9Y2P0 Hs.458438 1767562;2180263;5022383;5022578;5022651 D11S2921;D1S1423;ECD04345;G17694;WI-19547 BC37295_3 zinc finger protein 835 protein-coding ENSG00000127903 34332 12521 VALIDATED 2292093 ZNF829 zinc finger protein 829 19 19 19 q13.12 34163321 34191485 - 42074093 42099030 - 37379026 37407193 - 16344560;12477932;20562864;21549307 374899 Q3KNS6 ABBA01016190;AC008733;AK130969;AMYH01009754;BC107131;BC107132;BX538288;CR936826;DA033883;DB031896;NM_001037232;NM_001171979 AAI07132;AAI07133;BAC85471;CAD98083;NP_001032309;NP_001165450;Q3KNS6 Hs.720312 2123405;5015861;5017170;5020635;5022578;5037552;5109281;5117897;5118576;5122450;7185938 A008I39;D10S16;D11S3430;D1S1423;D1S1425;D7S3207;D8S2279;GDB:631813;L29953;RH18518 DKFZp686K21248;DKFZp779O175;FLJ27459;MGC129866;MGC129867 OTTHUMP00000225028;OTTHUMP00000225029;zinc finger protein 829 protein-coding ENSG00000185869 34032 VALIDATED 1606144 ZNF827 zinc finger protein 827 4 4 4 q31.22 144009499 144187313 - 146901324 147079057 - 146681874 146859607 - 6480464 19240061;16751668;16344560;14702039;12477932;8125298;22610502;20379614;22939629;22321011;21909109;22001757;23064961;23287719 152485 G5E9Z1;H0Y9K9;H0Y9M2;Q17R98 AB074279;ABBA01070038;ABBA01070039;ABBA01070040;ABBA01070041;ABBA01070042;AC104791;AC107212;AF450485;AI694534;AK056492;AK091130;AK094136;AK225805;AMYH01014599;AMYH01014600;BC033655;BC117407;BC143577;CH471056;DA760145;DQ384490;NM_178835 AAI17408;AAI43578;AAP97679;ABD48897;BAC03591;BAG51731;BAG52823;EAX05033;EAX05034;EAX05035;NP_849157;Q17R98 Hs.633543 1340352;1704284;1717891;1780006;1790235;2134692;7186463 D4S1202;D4S1586;RH122777;SHGC-154256;SHGC-83281;URB062 OTTHUMP00000220099;OTTHUMP00000220100;OTTHUMP00000220101;zinc finger protein 827 protein-coding ENSG00000151612 27193 14095 VALIDATED 1316121 ZNF831 zinc finger protein 831 20 20 20 q13.32 54506716 54574808 + 57199470 57267563 + 57766075 57834168 + 12477932;11780052;19430479;19875103;23128233 128611 Q5JPB2 ABBA01005965;ABBA01005966;AL121919;AL713683;AL833682;AMYH01012024;BC033155;BQ007043;NM_178457 CAD28487;CAI46154;NP_848552;Q5JPB2 Hs.473204 1342071;1722633;1727333;1784356 D20S171;G60400;G63074;SHGC-107411 C20orf174;dJ492J12.1 OTTHUMP00000031417;chromosome 20 open reading frame 174;zinc finger protein 831 protein-coding ENSG00000124203 16167 PROVISIONAL 3322019 ZNF839P1 zinc finger protein 839 pseudogene 1 Y Y 6626809 6628084 - 21146996 21148271 + 100419733 ABBA01073708;AC009235;NG_021945 pseudo 38455 INFERRED 1342538 ZNF83 zinc finger protein 83 19 19 19 q13.3 50164872 50243119 - 57807429 57885698 - 52655844 53193886 - 1580863;6480464 16344560;15231748;14702039;12477932;8125298;8088807;7865130;2505992;20936779;17213182;22505724 55769 B3KQJ6;L0R8M2;M0QXM0;M0R099;M0R0P3;M0R183;M0R1T0;M0R287;M0R3A5;P51522;Q96K00 AA883993;AB209516;ABBA01068244;ABBA01068245;ABBA01068246;ABBA01068247;ABBA01068248;ABBA01068249;ABBA01068250;ABBA01068251;ABBA01068252;ABBA01068253;ABBA01068254;ABBA01068255;ABBA01068256;ABBA01068257;ABBA01068258;ABBA01068259;ABBA01068260;ABBA01068261;AC010320;AC010332;AC010506;AC011468;AC022150;AK001877;AK027518;AK027782;AK054659;AK055318;AK075066;AK225945;AK289399;AMYH01009954;AMYH01009955;AMYH01009956;AY500361;BC013321;BC017737;BC032867;BC050407;BC063032;BG260506;BG399319;BG741860;BX641726;BX647540;CH471135;DA107683;DA151844;DA183557;DA258790;DA341245;DA380756;DA434207;DA449506;DA497861;DA701045;DA731895;DB107467;DB134270;DB252431;DB254966;DB272526;DR761375;DT216882;M27877;NM_001105549;NM_001105550;NM_001105551;NM_001105552;NM_001105553;NM_001105554;NM_001242531;NM_001242538;NM_001277945;NM_001277946;NM_001277947;NM_001277948;NM_001277949;NM_001277951;NM_001277952;NM_018300 AAG41760;AAH32867;AAH50407;AAH63032;AAS55111;BAA91956;BAB55171;BAB55364;BAD92753;BAF82088;BAG51500;BAG52058;EAW72088;EAW72089;EAW72090;EAW72091;NP_001099019;NP_001099020;NP_001099021;NP_001099022;NP_001099023;NP_001099024;NP_001229460;NP_001229467;NP_001264874;NP_001264875;NP_001264876;NP_001264877;NP_001264878;NP_001264880;NP_001264881;NP_060770;P51522 Hs.467210;Hs.659798;Hs.665751;Hs.710125;Hs.744177 1671470;1673904;1712078;1739915;1768245;2110835;5019573;5022651;5111429 A006V32;D11S2921;D6Got83;D8S1680;G54087;SHGC-32432;SHGC-56762;STS-AA028917;ZNF83__4723 FLJ11015;FLJ14876;FLJ30097;FLJ90585;HPF1;MGC33853;ZNF816B zinc finger protein 816B;zinc finger protein 83;zinc finger protein HPF1 protein-coding ENSG00000167766 13158 01935 194558 VALIDATED 2298823 ZNF840 zinc finger protein 840 20 20 20 q13.12 41803725 41832694 + 44525716 44554686 + 45092309 45121279 + 100130863 A6NDX5 AL031686;CH471077;XM_001722110;XM_001722520 A6NDX5;EAW75736;XP_001722162;XP_001722572 C20orf157;ZNF840P;dJ981L23.3 putative zinc finger protein 840;zinc finger protein 840 (pseudogene);zinc finger protein 840, pseudogene APPROVED protein-coding 34344 1606634 ZNF833P zinc finger protein 833, pseudogene 19 19 19 p13.2 11679253 11691824 + 11645808 11658384 + 11784813 11797384 + 6480464 16344560;12477932 401898 Q6ZTB9 ABBA01029827;AC008543;AI623739;AK126753;AMYH01009488;BC137336;BC137337;BX089669;CH471106;DA519061;DA526679;DA919609;NR_028594 AAI37337;AAI37338;BAC86674;EAW84238;Q6ZTB9 Hs.672384 ZNF833 APPROVED pseudo 33819 18434 VALIDATED 2293901 ZNF837 zinc finger protein 837 19 19 19 q13.43 55922985 55936382 - 63570549 63584204 - 58878990 58892389 - 12477932 116412 Q96EG3 ABBA01020771;ABBA01020772;AC012313;AMYH01010034;AMYH01010035;BC012365;BC029960;BX332043;BX374687;CH471135;NM_138466;NR_049780 AAH12365;EAW72579;NP_612475;Q96EG3 Hs.222236 1789200 G65599 zinc finger protein 837 protein-coding ENSG00000152475 25164 VALIDATED 2293896 ZNF836 zinc finger protein 836 19 19 19 q13.41 49707682 49724450 - 57349937 57366708 - 52658125 52674896 - 12477932;22505724 162962 M0QYS4;M0QZ88;M0R1N4;Q6ZNA1 ABBA01068261;AC010320;AC011468;AK131308;AMYH01009954;BC011784;BC049172;NM_001102657 BAD18474;NP_001096127;Q6ZNA1 Hs.631584 2134489 RH65995 FLJ16287 zinc finger protein 836 protein-coding ENSG00000196267 34333 PROVISIONAL 1605313 ZNF830 zinc finger protein 830 17 17 17 q12 30198746 30200402 + 30312662 30314318 + 33288549 33290205 + 6480464 17081983;16344560;15489334;14702039;12477932;8889548;19773279;18029348;22939629 91603 J3QQQ3;Q96NB3 ABBA01011221;AC022903;AI866097;AK055707;AK315671;AMYH01008353;BC002913;BC009044;BC011584;BG766126;BM720333;BM969401;CH471147;DB030670;NM_052857 AAH02913;AAH09044;AAH11584;ABM83252;ABM86454;BAB70992;BAG38036;EAW80200;NP_443089;Q96NB3 Hs.413678 1734410;1797150;1857857;2124214 D17S1382E;D17S1561;MGC20398;SHGC-56716 CCDC16;MGC20398;OMCG1;SEL13 coiled-coil domain containing 16;coiled-coil domain-containing protein 16;hypothetical protein MGC20398;sel-13 suppressor of lin-12 homolog;zinc finger protein 830 protein-coding ENSG00000198783 28291 14469 VALIDATED 1343787 ZNF839 zinc finger protein 839 14 14 14 q32.31 82840606 82863552 + 101855849 101878797 + 102783714 102809511 + 6480464 14702039;12477932;10508479;8125298;20936779;21832049 55778 A8K0R7;H0YKI3;H0YKY1;H0YLB6;H0YM06;H0YM94;H0YMU1;H0YNU6 ABBA01048481;ABBA01048482;ABBA01048483;ABBA01048484;ABBA01048485;AF155112;AK001994;AK093342;AK125678;AK127821;AK223312;AK289632;AL137229;AL137478;AL352978;AMYH01006031;BC006222;BC006228;BC042659;BC073137;BQ019232;BX248266;BX367536;CH471061;DB460089;NM_001267827;NM_001267828;NM_018335 A8K0R7;AAD42878;AAH73137;BAA92026;BAD97032;BAF82321;BAG52694;BAG54234;BAG54578;CAB70759;CAD62594;EAW81781;EAW81782;EAW81783;EAW81784;NP_001254756;NP_001254757;NP_060805 Hs.743359 1849667;2142011;2184832;5015879;5016478;5020948;5022450;5022588;5024035;5024761;5037552 A007E41;D10S275;D13S116;D14S1145;D5S1597E;D8S2279;G35510;GDB:314949;GDB:434012;RH36905;RH47332 C14orf131;FLJ11132 renal carcinoma antigen NY-REN-50;zinc finger protein 839 protein-coding ENSG00000022976 20345 18532 VALIDATED 2303672 ZNF841 zinc finger protein 841 19 19 19 q13.41 49617277 49648580 - 57259531 57289340 - 52567719 52599018 - 6480464 14702039;12477932;22505724 284371 M0QYV6;M0R0F3;Q6ZN19 ABBA01068262;AC011468;AK093512;AK094953;AK129938;AK131334;AK131409;AMYH01009954;BC136254;NM_001136499 AAI36255;BAC04190;BAC85253;BAD18493;BAD18556;NP_001129971;Q6ZN19 Hs.665751 1335859;1707636;1719197;5015861;5109281;7185938 D10S16;D19S601;D1S1425;RH123317;SHGC-81978 zinc finger protein 841 protein-coding ENSG00000197608 27611 VALIDATED 2299184 ZNF847P zinc finger protein 847, pseudogene 1 1 1 q42.13 201076514 201077389 - 225951873 225961023 - 227884733 227885408 - 6480464 11891061 401983 Q8TDK4 AF387613;AL136378;NR_036753 AAL91354 Hs.681816 gm127 APPROVED pseudo 34384 VALIDATED 3378211 ZNF848P zinc finger protein 848, pseudogene 17 17 59743932 59745028 + 63172546 63173642 + 100380945 ABBA01029050;AC060771;AMYH01008570;NG_016731 APPROVED pseudo 34387 INFERRED 1606633 ZNF842 zinc finger protein 842 19 p13.2 12351003 12355503 - 12477932 403113 AC008758;AL554508;CB988846;NM_203381 NP_976315;Q6PEW9 Hs.546637 MGC71805 protein-coding 34380 14704 2301264 ZNF849P zinc finger protein 849, pseudogene 19 19 19 p12 22701018 22702552 + 22659535 22661380 + 22867595 22869129 + 100130108 ABBA01051415;AC011467;AC024563;AMYH01009645;NG_009810 APPROVED pseudo 34389 INFERRED 2300359 ZNF843 zinc finger protein 843 16 16 16 p11.2 28854038 28861497 + 31354386 31361849 - 31446885 31454348 - 12477932 283933 H3BQN5;Q8N446 ABBA01042095;AC026471;AK096248;AK291063;AMYH01007509;BC036762;NM_001136509 AAH36762;ADZ16091;BAF83752;BAG53240;NP_001129981;Q8N446 Hs.722243 5014019;5021872 D5S2354;sY3084 MGC46336 zinc finger protein 843 protein-coding ENSG00000176723 28710 PROVISIONAL 2300035 ZNF844 zinc finger protein 844 19 19 19 p13.2 12069915 12083007 + 12036514 12064134 + 12175546 12188626 + 6480464 14702039;12477932;22505724 284391 F8VS19;F8WE48;Q08AG5 ABBA01029809;ABBA01029810;ABBA01029811;AC022415;AK027865;AK098117;AK299732;AL832297;AMYH01009489;BC125185;BC125186;CH471106;NM_001136501 AAI25187;BAB55416;BAG53579;BAG61630;CAI46141;EAW84257;NP_001129973;Q08AG5 Hs.646391 2185159;5014051;5015619;5015961;5016478;5022200;5022578;5022651;5037552;5109281 D11S2921;D11S3114;D15S1477;D1S1423;D1S1425;D8S2278;D8S2279;GDB:434012;L18426;RH48471 FLJ14959;MGC150553 OTTHUMP00000209834;OTTHUMP00000209835;zinc finger protein 844 protein-coding 25932 PROVISIONAL 2302454 ZNF853 zinc finger protein 853 7 7 7 p22.1 6071259 6079652 - 6621511 6630446 + 6655527 6663921 + 18669648;12853948 54753 P0CG23 AACC02000124;ABBA01056499;AC073343;AL133055;AL390175;AMYH01017041;CH236963;NM_017560 NP_060030;P0CG23 Hs.592170 2166398;5122153 G15982;GDB:4585282 DKFZp434J1015;DKFZp547K054 zinc finger protein 853 protein-coding ENSG00000236609 21767 PROVISIONAL 4891178 ZNF859P zinc finger protein 859, pseudogene 1 p33 50310324 50312161 + 100507490 ABBA01050789;AL591602;AMYH01000601;NG_028931 pseudo 34507 INFERRED 1352668 ZNF86 zinc finger protein 86 (HPF5) 7640 13161 1351858 ZNF84 zinc finger protein 84 12 12 12 q24.33 133314170 133340176 + 132124239 132146261 + 133613878 133639885 + 1580863;6480464 2505992;16344560;15489334;12477932;11856868;1945843;14702039;21890473;18029348 7637 F5H0T0;F5H1B1;F5H1R3;F5H3F5;F5H630;F5H6X5;J3KQ53;Q9UC18 AA679683;ABBA01042532;ABBA01042533;AC073911;AK054847;AK055603;AK314232;AMYH01004923;BC036656;BC048350;BC062552;BQ775424;BQ787271;CH471218;DA663778;DA739478;DB074516;DB096505;DN601581;M27878;NM_001127372;NM_003428;X60156 AAA79359;AAH36656;AAH48350;AAH62552;BAG36902;CAB94232;EAW54799;EAW54800;EAW54801;EAW54802;NP_001120844;NP_003419;P51523 Hs.445019 1767887;2124455 D12S2113;RH78048 HPF2 OTTHUMP00000237384;OTTHUMP00000237385;OTTHUMP00000237386;OTTHUMP00000237387;OTTHUMP00000237388;OTTHUMP00000237389;OTTHUMP00000237390;OTTHUMP00000237393;zinc finger protein 84;zinc finger protein HPF2 protein-coding ENSG00000198040 13159 15891 VALIDATED 2312695 ZNF861P zinc finger protein 861, pseudogene 19 19 p13.12 15830727 15832521 - 15932803 15934597 - 15057824 100302737 O60384 ABBA01051124;AC004510;AMYH01009556;NG_023047 AAC08455;O60384 APPROVED pseudo 34514 INFERRED 2301111 ZNF860 zinc finger protein 860 3 3 3 p23 31959854 31969707 + 32005619 32008236 + 32023266 32033228 + 16641997;22505724 344787 A6NHJ4 ABBA01024948;AC108485;AK294003;AMYH01013057;BQ268755;NM_001137674 A6NHJ4;BAG57365;NP_001131146 Hs.585139 FLJ60236 OTTHUMP00000208772;zinc finger protein 860 protein-coding ENSG00000197385 34513 VALIDATED 6769402 ZNF863P zinc finger protein 863, pseudogene 2 52303236 52304578 + 100419682 ABBA01075226;AC079304;AMYH01010352;NG_023689 pseudo 35156 INFERRED 4109409 ZNF865 zinc finger protein 865 19 19 q13.42 53167274 53170452 + 56124959 56129911 + 6480464 15057824;21139048;21890473 100507290 P0CJ78 ABBA01020862;AC008735;AMYH01010003;AMYH01010004;NM_001195605 NP_001182534;P0CJ78 Hs.729114 1668033;5020740;5021228;5022639;5024413 D11S2808;GDB:312794;L17809;L17877;RH78351 zinc finger protein 865 protein-coding 38705 VALIDATED 1348551 ZNF87 zinc finger protein 87 (HPF6) 7641 13162 2298731 ZNF846 zinc finger protein 846 19 19 19 p13.2 9763557 9774816 - 9729151 9740410 - 9868151 9879410 - 6480464 14702039;12477932;21145461;22505724 162993 K7ELQ5;K7ELV4;K7EML1;K7EMP9;Q147U1 ABBA01029963;ABBA01029964;AC008752;AK097652;AK308938;AMYH01009461;BC037359;BC118576;BC118657;NM_001077624 AAI18577;BAG53503;NP_001071092;Q147U1 Hs.665717 zinc finger protein 846 protein-coding ENSG00000196605 27260 VALIDATED 6481570 ZNF877P zinc finger protein 877, pseudogene 20 21246701 21247062 + 100873811 ABBA01054100;AL117332;AMYH01011768;NG_032730 pseudo 38697 INFERRED 2298741 ZNF845 zinc finger protein 845 19 19 19 q13.42 50878376 50899500 + 58528814 58549934 + 53837002 53858122 + 14702039;12477932;21890473;22505724 91664 M0R2N3;Q96IR2 ABBA01068217;AC010467;AK096653;AK295079;AMYH01009959;BC007307;NM_138374 AAH07307;BAG58121;NP_612383;Q96IR2 Hs.720672 zinc finger protein 845 protein-coding ENSG00000213799 25112 VALIDATED 3029695 ZNF879 zinc finger protein 879 5 5 5 q35.3 174078027 174088704 + 178383069 178394671 + 178450776 178461388 + 6480464 22505724 345462 B4DU55;E5RGZ8;E5RI37;E5RJY9 ABBA01010011;ABBA01010012;AC104117;AK300504;AMYH01015948;BX114675;BX648737;DC350553;NM_001136116 B4DU55;BAG62217;NP_001129588 Hs.445740 1681983;1749883 RH93585;SHGC-111610 DKFZp686E2433 OTTHUMP00000224418;OTTHUMP00000224419;OTTHUMP00000224420;zinc finger protein 879 protein-coding 37273 PROVISIONAL 1345964 ZNF88 zinc finger protein 88 (HPF8) 7642 13163 3207633 ZNF878 zinc finger protein 878 19 19 19 p13.2 12048979 12061496 - 12015620 12028127 - 12154620 12163782 - 6480464 16344560;22505724 729747 C9JN71;M0R1P6 ABBA01029814;ABBA01029815;AC022415;AMYH01009488;BQ222464;DA007842;NM_001080404 C9JN71;NP_001073873 Hs.704229 2150038 D19S1067 OTTHUMP00000240919;zinc finger protein 878 protein-coding ENSG00000257446 37246 PROVISIONAL 2302450 ZNF850 zinc finger protein 850 19 19 19 q13.12 34018978 34048283 - 41926220 41955556 - 37234380 37263716 - 6480464 12477932;21139048 342892 A8MQ14;K7EJI8 ABBA01016197;AC020928;AC074138;AMYH01009751;AW440392;BC052603;BC136266;BC143637;CR627133;NM_001193552;NM_001267779 A8MQ14;NP_001180481;NP_001254708 Hs.406307 5014051;5015619;5016478;5020274;5020881;5022200;5022322;5022578;5022623;5022651;5037552 D11S2560;D11S2687;D11S2921;D11S3114;D1S1423;D8S2278;D8S2279;GDB:434012;L17709;L18426;L18441 ZNF850P putative zinc finger protein ENSP00000330994;zinc finger protein 850 APPROVED protein-coding ENSG00000267041 27994 VALIDATED 3322018 ZNF884P zinc finger protein 884, pseudogene Y Y 7226952 7227754 - 22519500 22520302 - 100419729 ABBA01057426;AC009240;NG_021920 pseudo 38421 INFERRED 3322017 ZNF885P zinc finger protein 885, pseudogene Y Y 7265511 7266139 + 22558054 22558682 + 100419734 ABBA01057434;AC009240;NG_021946 pseudo 38456 INFERRED 3322021 ZNF886P zinc finger protein 886, pseudogene Y Y 5609951 5610474 + 22163074 22163597 - 100419728 ABBA01073820;AC009233;NG_021919 pseudo 38420 INFERRED 6482637 ZNF887P zinc finger protein 887, pseudogene 19 11759173 11762783 + 100419709 ABBA01029829;AC008543;AMYH01009488;NG_024217 ZNF887 pseudo 38700 INFERRED 2298810 ZNF852 zinc finger protein 852 3 3 3 p21.31 44478482 44490156 - 44515641 44527117 - 44540462 44552132 - 12477932;22505724 285346 Q6ZMS4 ABBA01024743;AC099669;AK131507;AK296954;AMYH01013120;BC014381;CH471055;XM_001717544;XM_003403764;XM_003960323 BAG59499;EAW64710;Q6ZMS4;XP_001717596;XP_003403812;XP_003960372 Hs.648974 1662898;1662900 SHGC-34261;STS-R89287 OTTHUMP00000209916;putative zinc finger protein 852;zinc finger protein 852 protein-coding ENSG00000178917 27713 MODEL 1343266 ZNF85 zinc finger protein 85 19 19 19 p12 20940963 20968411 + 20897934 20925343 + 21106059 21133503 + 1580863;6480464 9839802;12477932;9406578;8467795;2505992;2023909;15342556;16341674;16344560;22505724 7639 M0QXL2;M0QY93;M0QZ75;M0QZN6;M0R0J7;M0R0V3;M0R120;M0R1W3;M0R385;Q03923;Q49A12;Q96HE0 ABBA01051362;AC008739;AI253261;AMYH01009629;BC008688;BC036394;BC047646;BC068066;BM755583;BP199573;CH471106;D70831;DB119881;DB524732;DC358791;DN994243;M61866;M61868;NM_001256171;NM_001256172;NM_001256173;NM_003429;NR_045830;U35376 AAA52689;AAA58671;AAA79179;AAH08688;AAH47646;AAH68066;BAA24050;EAW84882;EAW84883;NP_001243100;NP_001243101;NP_001243102;NP_003420;Q03923 Hs.37138 2159200;5492395 RH47808;UniSTS:480893 HPF4;HTF1;MGC78566 zinc finger protein 85;zinc finger protein 85 (HPF4, HTF1);zinc finger protein HPF4;zinc finger protein HTF1 protein-coding ENSG00000105750 13160 04875 603899 VALIDATED 4109179 ZNF888 zinc finger protein 888 19 19 19 q13.41 50457782 50470693 - 58101113 58112938 - 53409340 53421126 - 15057824 388559 P0CJ79 ABBA01068231;ABBA01068232;AC010487;AMYH01009957;CH471135;XM_003960766;XM_003960893;XM_496322 EAW72103;P0CJ79;XP_003960815;XP_003960942;XP_496322 1684178;1753919 RH93828;SHGC-108139 zinc finger protein 888 protein-coding 38695 MODEL 2299992 ZNF862 zinc finger protein 862 7 7 7 q36.1 144204724 144233784 + 149166442 149195501 + 149535509 149564568 + 6480464 16344560;14702039;12477932;9628581 643641 C9JB70;O60290 AACC02000041;AB011115;ABBA01033639;AC004877;AK054924;AK128787;AMYH01018126;BC041427;BC045757;BC092506;BC113087;BQ270712;DA724031;DA797323;NM_001099220 AAI13088;BAA25469;NP_001092690;O60290 Hs.731923 1669648;1676194;1732547;1751919;1773768;1775721;1850653;2165764;5037744 D1S3694;D7S1494;D7S2075E;GDB:4585091;GDB:4585488;RH92234;SHGC-105862;STS-H38953;WI-20747 FLJ30362;KIAA0543 OTTHUMP00000212606;zinc finger protein 862 protein-coding ENSG00000106479 34519 PROVISIONAL 1354481 ZNF90P1 zinc finger protein 90 pseudogene 1 3 3 3 q13 99467745 99469085 + 101076137 101077477 + 101076137 101077477 + 8467795 7661 ABBA01061779;AC068764;AMYH01013359;NG_009580 ZNF108;ZNF108P APPROVED pseudo 12888 INFERRED 1354246 ZNF90P2 zinc finger protein 90 pseudogene 2 6 6 30462889 30463542 - 28856758 28857411 - 100419606 ABBA01038028;AL662859;AL662871;AMYH01016194;BX000360;BX119924;CR759942;CR936876;NG_025795 ZNF463P;dJ111M5.3 APPROVED pseudo 21687 INFERRED 3186102 ZNF883 zinc finger protein 883 9 9 9 q32 86192825 86207897 + 114799221 114814293 - 115759400 115774472 - 6480464 14702039;15164053 169834 P0CG24 ABBA01042692;AK095843;AL162588;AMYH01021655;CH878453;NM_001101338 EAW50554;NP_001094808;P0CG24 Hs.192877 1699278;2154003 RH103221;RH66615 zinc finger protein 883 protein-coding 27271 VALIDATED 6481561 ZNF90P3 zinc finger protein 90 pseudogene 3 7 62547122 62548656 - 100873799 ABBA01006348;AC069285;AMYH01017359;NG_032367 pseudo 39882 INFERRED 1347563 ZNF91 zinc finger protein 91 The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010] 19 19 19 p12 23374928 23412675 - 23332338 23370109 - 23540498 23578269 - 1580863;6480464 2023909;8467795;19240061;16730941;16344560;11470777;2505992;19322201;17043677;15576338;22505724 7644 M0QX31;M0R186;Q05481 ABBA01051432;AC010300;AC016628;AC022409;AC093058;AI590336;AK291256;AK300294;AMYH01009653;CH471106;DB219374;L11672;M61871;NM_003430 AAA58672;AAA59469;BAF83945;BAH13252;EAW84940;NP_003421;Q05481 Hs.654471 2218350;2220626;5014051;5022200;5037552;5113153;5124275 CDC42EP3_4534;D8S2278;D8S2279;L18426;RH27908;RH39080;UniSTS:486333 HPF7;HTF10 zinc finger protein 91;zinc finger protein 91 (HPF7, HTF10);zinc finger protein HPF7;zinc finger protein HTF10 APPROVED protein-coding ENSG00000167232 13166 04916 603971 VALIDATED 5013941 ZNF92P1Y zinc finger protein 92 pseudogene 1, Y-linked Y Y 1498831 1499964 + 7721751 7722884 - 100419554 ABBA01060169;AC007275;NG_024760 pseudo 39553 INFERRED 5013938 ZNF92P2 zinc finger protein 92 pseudogene 2 19 19 22144854 22145372 - 22312604 22313122 - 100419705 ABBA01051403;AC073539;AMYH01009641;NG_024170 pseudo 39554 INFERRED 5013940 ZNF92P3 zinc finger protein 92 pseudogene 3 19 19 23961416 23962873 + 24117181 24118638 + 100419711 ABBA01051448;AC011503;AMYH01009659;NG_024255 pseudo 39555 INFERRED 2303325 ZNF876P zinc finger protein 876, pseudogene 4 4 4 p16.3 147376 190760 + 201424 239122 + 206389 249774 + 16344560;15815621;15489334;12477932 642280 Q49A33 ABBA01019326;AC079140;AC108475;AMYH01013831;BC028359;BC046475;CH471131;DB024685;NR_027481 EAW82673;Q49A33 Hs.673877 1684186;1857042;2164814;5014051;5022578;5037552;5093574 A009S06;D1S1423;D4S90;D8S2278;D8S2279;G32799;SHGC-67308 MGC26356;MGC51010 APPROVED pseudo ENSG00000198155 32472 VALIDATED 1353363 ZNF94 zinc finger protein 94 (F11465) 7647 13170 1350420 ZNF95 zinc finger protein 95 (F13463) 7648 13171 4889232 ZNF962P zinc finger protein 962, pseudogene 13 13 q11 17938459 17959552 - 19040459 19061552 - 15057823 729501 AL138715;AMYH01004924;NG_023215 pseudo 39250 INFERRED 5133155 ZNF965P zinc finger protein 965, pseudogene 13 13 13 q11 378724 379433 + 18205890 18206456 + 19307859 19308568 + 100132598 AL391382;AMYH01004930;NG_021967 pseudo 42025 INFERRED 6484651 ZNF968P zinc finger protein 968, pseudogene 6 28376002 28377027 - 100419756 ABBA01038018;AMYH01016190;NG_025794;Z98745 pseudo 44091 INFERRED 6771203 ZNF969P zinc finger protein 969, pseudogene 4 q25 111337416 111339660 + 100130995 ABBA01063799;AC093872;AMYH01014461;NG_028847 pseudo 44211 INFERRED 1343613 ZNF97 zinc finger protein 97 (F6644) 7650 13173 4109380 ZNF890P zinc finger protein 890, pseudogene 7 7 7 p22.1 5120165 5143290 - 5128028 5150752 - 5160941 5184177 - 11181995;12477932 645700 ABBA01039440;ABBA01039441;ABBA01039442;ABBA01039443;AC092028;AK295403;AMYH01016993;BC127664;CH471144;NR_034163 BAG58355;EAW87323 Hs.690815 1786404;2164505 D4S3184;SHGC-171979 pseudo ENSG00000159904 38691 VALIDATED 7242309 ZNF891 zinc finger protein 891 11181995;12477932;15489334;16344560;16541075 101060200 A8MT65 ABBA01042529;ABBA01042530;AC026786;AMYH01004923;BC017932;CH471218;DA004094;DB295002;NM_001277291;XM_003959972;XM_003960523;XM_003960871 A8MT65;EAW54793;NP_001264220;XP_003960021;XP_003960572;XP_003960920 1703654 SHGC-78788 hCG1646157 protein-coding 38709 VALIDATED 1350332 ZNF90 zinc finger protein 90 19 19 19 p12 20093789 20136994 + 20049578 20091687 + 20188803 20231977 + 1580863;6480464 2023909;15146197;11181995;8467795;12477932;18029348;22505724 7643 F8WBQ5;F8WDJ7;Q03938 ABBA01051347;ABBA01051348;ABBA01051349;AC006539;AC011447;AK298173;AMYH01009613;BC137211;BX102781;CH471106;CN386341;M61870;NM_007138 AAA36028;AAI37212;BAG60444;EAW84871;EAW84872;NP_009069;Q03938 Hs.55304 1752651;1770698;2131892;2220430;7186918 D18S1237;D19S726;ERV3;SHGC-106499;UniSTS:481985 HTF9 OTTHUMP00000212590;OTTHUMP00000212591;OTTHUMP00000212593;zinc finger protein 90;zinc finger protein HTF9 protein-coding 13165 603973 VALIDATED 3207968 ZNF880 zinc finger protein 880 19 19 19 q13.41 49922753 49939093 + 57564994 57580860 + 52873170 52889048 + 11827452;12477932;14702039;22505724 400713 F5H026;M0R0M5;Q6PDB4 ABBA01068256;ABBA01068257;AC010320;AC010332;AF086165;AF088022;AI754748;AK297834;AMYH01009954;BC013198;BC056265;BC058819;DC419753;NM_001145434 AAH58819;BAG60168;NP_001138906;Q6PDB4 Hs.502314 5014051;5037552 D8S2278;D8S2279 OTTHUMP00000237517;OTTHUMP00000237519;zinc finger protein 880;zinc finger protein LOC400713 protein-coding ENSG00000221923 37249 VALIDATED 6908311 ZNHIT1P1 zinc finger, HIT-type containing 1 pseudogene 1 8 q24.3 143939770 143940210 + 100288248 ABBA01005284;AC083841;AMYH01019094;NG_030258 pseudo 44474 INFERRED 1345315 ZNF93 zinc finger protein 93 19 19 19 p12 19917116 19951771 + 19872787 19906766 + 20011722 20046382 + 1580863;6480464 2023909;15057824;14702039;12477932;8467795;16341674;19247474;19742314;20379614;22505724 81931 K7EPG7;K7EPV7;K7EQ36;K7ES58;P35789;Q6NS90 ABBA01051344;AC007204;AC011477;AK022550;AK096342;AK295921;AMYH01009612;BC020837;BC038096;BC039001;BC058821;BC070372;BC107581;BC136718;BC136719;BG257405;BG289439;BG542138;BM842045;BU165449;CH471106;M61873;NM_031218 AAA83548;AAD22981;AAH70372;AAI07582;AAI36719;AAI36720;BAB14093;BAC04764;BAG58708;EAW84865;EAW84866;EAW84867;NP_112495;P35789 Hs.723768 1655078;1672143 SGC30524;STS-F04238 HPF34;HTF34;TF34;ZNF505 zinc finger protein 505;zinc finger protein 93;zinc finger protein 93 (htf34);zinc finger protein HTF34 protein-coding ENSG00000184635 13169 10334 603975 VALIDATED 1348977 ZNF99 zinc finger protein 99 19 19 p12 22730847 22744624 - 22934985 22966973 - 6480464 12477932;8467795 7652 A8MXY4;M0R335;Q8WTZ3 ABBA01051416;ABBA01051417;AC008626;AC024563;AMYH01009646;AMYH01009647;AMYH01009648;BC021822;NM_001080409 A8MXY4;AAH21822;NP_001073878;Q8WTZ3 Hs.568380;Hs.737077 5015619;5015961;5037552;5109281 D11S3114;D15S1477;D1S1425;D8S2279 C19orf9;F8281;MGC24986 zinc finger protein 99;zinc finger protein ENSP00000375192 protein-coding 13175 603981 INFERRED 1352835 ZNF98 zinc finger protein 98 19 19 19 p12 22406436 22437180 - 22365739 22396988 - 22573899 22605148 - 16344560;15489334;15057824;12477932;11181995;8467795;22331829;23064961;23259602;22505724 148198 A6NK75;M0QZH9;M0QZS3;M0R243 ABBA01051406;ABBA01051407;AC011494;AC011516;AMYH01009642;BC110576;BC129810;CH471106;NM_001098626 A6NK75;AAI10577;AAI29811;EAW84926;NP_001092096 Hs.667355 1750645;1775125;2220430;5492395;7186918 D19S1024;ERV3;SHGC-111956;UniSTS:480893;UniSTS:481985 F7175;MGC129634;ZNF739 zinc finger protein 739;zinc finger protein 98;zinc finger protein F7175 APPROVED protein-coding ENSG00000197360 13174 603980 VALIDATED 1347840 ZNF92 zinc finger protein 92 7 7 7 q11.21 58576214 58603439 - 64476203 64503433 + 64838768 64865998 + 1580863;6480464 2023909;15489334;14702039;12477932;8467795;20379614;18029348;20211142;19913121;20628086;22505724 168374 C9IZS8;Q03936 ABBA01008765;AC092685;AK091618;AK093566;AMYH01017456;BC036439;BC040594;BX647875;CH471262;M61872;NM_007139;NM_152626 AAA58673;AAH36439;AAH40594;BAC03708;EAW52301;NP_009070;NP_689839;Q03936 Hs.9521 2123094;2143481;2220430;2220626 G36174;SHGC-52453;UniSTS:481985;UniSTS:486333 HPF12;HTF12;TF12 OTTHUMP00000210086;OTTHUMP00000210087;zinc finger protein 92;zinc finger protein 92 (htf12);zinc finger protein HTF12 protein-coding ENSG00000146757 13168 04919 603974 VALIDATED 1603622 ZNFX1 zinc finger, NFX1-type containing 1 20 20 20 q13.13 44567051 44599361 - 47295844 47328163 - 47862437 47894756 - 6480464 16344560;15838384;14702039;12477932;12421765;11780052;10718198;21139048;21890473;21906983;20881960 57169 Q5JXR5;Q5JXR6;Q5JXR7;Q9P2E3 AB037825;ABBA01052741;AK000573;AK002139;AK022641;AK023836;AK096594;AK307392;AL049766;AMYH01011965;AU140771;BC014041;BC030789;BC041630;BC062347;BC110888;CH471077;DA809204;NM_021035 AAH14041;AAH62347;AAI10889;AAI56358;AAI72478;BAA91264;BAA92102;BAA92642;BAB14149;BAB14696;EAW75661;EAW75662;EAW75663;EAW75664;NP_066363;Q9P2E3 Hs.371794 1771836;2152448;2152521;2178242;5015619;5022322;5037552;5118444 AL030964;D11S2560;D11S3114;D11S3316;D8S2279;SHGC-33731;STS-N94383;Z94429 FLJ39275;MGC131926 NFX1-type zinc finger-containing protein 1;OTTHUMP00000031247;OTTHUMP00000043345;OTTHUMP00000063234 protein-coding ENSG00000124201 29271 11142 VALIDATED 1348570 ZNHIT2 zinc finger, HIT-type containing 2 11 11 11 q13 62210175 62211470 - 64640451 64641746 - 64883875 64885170 - 1580863;6480464 17656577;15489334;12477932;10873569;10602999;8125298;17643375;22939629;20360068;21906983;21963094;22505724 741 E9PQB8;Q9UHR6 ABBA01024136;AF119497;AK027081;AK223333;AK223358;AMYH01003716;AP003068;BC029825;BC038089;BC052240;BC057799;BC104002;BC104003;CH471076;NM_014205 AAF23591;AAH29825;AAH38089;AAH52240;BAD97053;BAD97078;EAW74352;NP_055020;Q9UHR6 Hs.121025 C11orf5;FON;MGC120285;MGC120286 OTTHUMP00000230419;zinc finger HIT domain-containing protein 2;zinc finger, HIT domain containing 2;zinc finger, HIT type 2 APPROVED protein-coding ENSG00000174276 1177 05200 604575 VALIDATED 1318185 ZNHIT1 zinc finger, HIT-type containing 1 7 7 7 q22.1 95870143 95876630 + 100647705 100654191 + 100860985 100867471 + 1580863;6480464 14667819;17700068;17380123;15489334;14702039;12853948;12477932;17577209;18624398;20473270;21906983 10467 O43257 ABBA01011341;AC004876;AF093571;AK092478;AK125123;AK312136;AMYH01017751;BC001877;BC010454;BC017333;CH471197;CR456992;NM_006349;U61837 AAB88578;AAD45833;AAF03558;AAH17333;ABM83201;ABM86402;BAG35072;CAG33273;EAW50206;EAW50207;EAW50208;EAW50209;NP_006340;O43257 Hs.211079 1668370;1674848;1770674;5014740;5015404;5016781;5019070;5020946;5022651;5024413 D11S2921;D17S610;G44334;GDB:4585013;L17705;L17877;L17971;RH47378;SHGC-67307;WI-8602 CG1I;ZNFN4A1 H_DJ0747G18.14;OTTHUMP00000211494;cyclin-G1-binding protein 1;p18 Hamlet;p18Hamlet;putative cyclin G1 interacting protein;zinc finger HIT domain-containing protein 1;zinc finger protein subfamily 4A member 1;zinc finger protein, subfamily 4A (HIT domain containing), member 1;zinc finger, HIT type 1 APPROVED protein-coding ENSG00000106400 21688 15892 VALIDATED 1352531 ZNRF2 zinc and ring finger 2 7 7 7 p14.3 30313247 30396631 + 30290448 30373833 + 30323923 30407308 + 1580863;6480464 17081983;16215985;14561866;12690205;19690564;21139048;19322201;18615712;22797923;23444366 223082 H3BRR5;Q8NHG8 AACC02000087;ABBA01056812;ABBA01056813;AC006978;AF513707;AF527533;AK025240;AMYH01017147;AMYH01017148;AMYH01017149;AY054122;CH471073;NM_147128 AAI72400;AAL14867;AAM88868;AAQ08115;EAL24455;EAW93938;EAW93939;NP_667339;Q8NHG8 Hs.263912 1768108;2124248;2183875 BCD1593;D7S1904;D7S2912 RNF202 E3 ubiquitin-protein ligase ZNRF2;OTTHUMP00000123388;RING finger protein 202;protein Ells2;zinc finger/RING finger 2;zinc/RING finger protein 2 protein-coding ENSG00000180233 22316 15894 612061 VALIDATED 5486545 ZNRF2P2 zinc and ring finger 2 pseudogene 2 7 29724388 29725437 - 16344560;9847074 100271874 ABBA01056801;AC007276;AMYH01017142;AMYH01017143;DA806488;DB453291;DB496596;NR_027347 Hs.729709 pseudo 42793 PROVISIONAL 1315114 ZNHIT3 zinc finger, HIT-type containing 3 17 17 17 q12 31664561 31673750 + 31916586 31925775 + 34842473 34851662 + 1580863;6480464 7776974;19149918;17081983;15489334;12477932;11916906;19596656;20211142;11500849;21890473;20360068;21988832 9326 K7EID8;K7EKL9;K7EKM8;K7EP15;K7EPV4;K7EQH8;K7EQM3;K7EQP1;Q15649 AB209193;ABBA01012425;AC126327;AC233700;AF400652;AK290858;AK308583;AK310022;AMYH01008361;AV763423;BC017931;BC105608;BE260293;BG032116;BI767446;BM457955;BQ009986;CB996852;CH471199;HY045632;L40410;NM_001281432;NM_001281433;NM_001281434;NM_004773;NR_104009;NR_104010;NR_104011 AAC41737;AAH17931;AAM82423;BAD92430;BAF83547;EAW57552;EAW57553;EAW57554;EAW57555;NP_001268361;NP_001268362;NP_001268363;NP_004764;Q15649 Hs.2210 1687638;1734524;1739647;1852981;2124875;5017227;5021045;5022578;5037552;5109281 D17S1459E;D17S1724E;D19S547;D1S1423;D1S1425;D8S2279;G38154;RH67774;RH91524;SHGC-31539 TRIP3 HNF-4a coactivator;OTTHUMP00000164077;TR-interacting protein 3;TRIP-3;thyroid hormone receptor interactor 3;thyroid receptor interacting protein 3;thyroid receptor-interacting protein 3;zinc finger HIT domain-containing protein 3;zinc finger, HIT domain containing 3;zinc finger, HIT type 3 APPROVED protein-coding ENSG00000108278 12309 05139 604500 VALIDATED 1351959 ZNRD1-AS1 ZNRD1 antisense RNA 1 6 6 6 p22.1 31566992 31627219 - 29968788 30028961 - 29968788 30028961 - 1304547;6480464 11130983 12477932;9553157;19851445;20041166;21900946;22286219 80862 Q2KJ03;Q6ZU40 ABBA01038041;AF032109;AF032110;AF032111;AF238323;AK126001;AL645935;AL669914;AL671277;AL671859;AL845439;AL845454;AMYH01016204;BC034573;BC067890;BC112395;BX005091;BX088647;BX120004;BX648746;BX927229;CR388205;CR759763;CR759943;CR759960;CR933629;NR_026751 BAC86387;Q2KJ03 Hs.653168 1298191;1678429;1685449;1686024;1700972;1701310;1786098;1786132;1786134;1852219;2141474;2220120;5095139;7185877;7185879;7185881;7187267;7187406;7204145;7204147 AFM101xa1;AluyHJ_162(no_Alu);D6S265;D6S2853;RH104113;RH104284;RH41003;RH79934;SHGC-171709;SHGC-172556;SHGC-172558;STS-M80468;WI-16058 C6orf12;HTEX4;NCRNA00171;ZNRD1-AS;ZNRD1AS APPROVED miscrna ENSG00000204623 13924 VALIDATED 6481051 ZNRF3-IT1 ZNRF3 intronic transcript 1 (non-protein coding) 100874339 AL021393;Z95113 miscrna 41440 6481211 ZNRF3-AS1 ZNRF3 antisense RNA 1 22 29420987 29427464 - 14702039 100874123 ABBA01055254;AK095488;AL021393;AMYH01012694;NR_046851 Hs.674708 5015619;5020946;5037552 D11S3114;D8S2279;L17971 FLJ38169 APPROVED miscrna ENSG00000177993 41927 PREDICTED 1351679 ZNRD1 zinc ribbon domain containing 1 This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] 6 6 p21.3 30137015 30140665 + 30029036 30032686 + 1580863;6480464;6907045 19115949;11130983;10662553;8938444;8125298;12477932;19050382;18982067;18594968;18564169;18058465;17492506;17389617;16713569;16189514;15662122;15489334;15358150;14726695;14574404;22697009;20587610;12795835;19693088;19851445;20041166;20192730;20211142;21080911;16341674;17709345;21988832;23453885 30834 Q2L6J2;Q9P1U0 AB202082;ABBA01038041;AF024616;AF024617;AF230337;AF230338;AF238320;AF238321;AK225874;AL669914;AL671859;AL845439;AMYH01016204;BC010898;BC050608;BC051741;BG503963;BM798114;BQ690150;BX088647;BX927229;CH471081;CR388205;CR457109;CR759763;CR759960;DN996443;HY071776;NM_001278785;NM_001278786;NM_014596;NM_170783;NR_103864;U53588 AAF40469;AAG50159;AAG50160;AAH10898;AAH50608;ABZ92022;BAE78600;CAG33390;EAX03250;EAX03251;EAX03252;NP_001265714;NP_001265715;NP_055411;NP_740753;Q9P1U0 Hs.57813 HTEX-6;MGC13376;Rpa12;TEX6;ZR14;hZR14;tctex-6 DNA-directed RNA polymerase I subunit RPA12;OTTHUMP00000029203;OTTHUMP00000029204;OTTHUMP00000161285;OTTHUMP00000161286;RNA polymerase I small specific subunit Rpa12;transcription-associated zinc ribbon protein;zinc ribbon domain containing, 1;zinc ribbon domain-containing protein 1 APPROVED protein-coding ENSG00000066379 13182 09601 607525 REVIEWED 1607024 ZNHIT6 zinc finger, HIT-type containing 6 1 1 1 p22.3 84359216 84418317 - 85891079 85946689 - 86115106 86174116 - 6480464 17081983;16710414;15489334;15231748;14702039;12747765;12477932;19322201;16344560;17636026;20379614;20360068;19471022;21693764;21906983;21963094;21252943;23382074;22505724 54680 Q9NWK9 ABBA01045633;ABBA01045634;ABBA01045635;AC092807;AC099561;AF308296;AK000736;AK000767;AK022664;AK298149;AK314566;AL442074;AMYH01000754;AMYH01000755;BC026236;BC110898;BQ777734;BX323040;CH471097;DB169943;NM_001170670;NM_017953 AAG48263;AAH26236;AAI10899;ABZ92340;BAA91349;BAA91371;BAG37148;BAG60425;CAC09440;EAW73194;EAW73195;NP_001164141;NP_060423;Q9NWK9 Hs.5111 1648165;1675979;1691896;1697860;1709338;1710424;2119842;2143927 AL033600;G30290;G34875;RH102457;RH74983;SHGC-75096;SHGC-81667;SHGC-82504 BCD1;C1orf181;FLJ12602;FLJ20729;FLJ20760;MGC131963;NY-BR-75 OTTHUMP00000012302;box C/D snoRNA essential 1 homolog;box C/D snoRNA protein 1;serologically defined breast cancer antigen NY-BR-75;zinc finger HIT domain-containing protein 6;zinc finger, HIT type 6 APPROVED protein-coding ENSG00000117174 26089 08630 VALIDATED 1605482 ZNRF2P1 zinc and ring finger 2 pseudogene 1 7 7 7 p14.3 32752927 32754963 + 32734267 32736120 + 32767562 32769595 + 6480464 14702039;12477932 441208 ABBA01056849;AC018645;AK094370;AMYH01017159;AMYH01017160;BC126382;BC126384;NR_003502 BAC04341 Hs.510645 1700914 RH104084 APPROVED pseudo 42792 18648 PROVISIONAL 1349961 ZNRF1 zinc and ring finger 1, E3 ubiquitin protein ligase This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012] 16 16 16 q23.1 59325881 59437794 + 73590416 73702393 + 75032915 75144892 + 1580863;6480464 16381901;15489336;15489334;14702039;14561866;12477932;11427537;11256614;11230166;11076863;19549727;19690564;19737534;19844255;21139048;22797923 84937 H3BRB6;H3BUF0;J3KTB9;Q8ND25 ABBA01058121;ABBA01058122;ABBA01058123;AC092383;AC099508;AF378524;AK027752;AK094870;AK128349;AK294434;AL136903;AL390144;AL834440;AMYH01007815;BC007235;BQ884230;CH471114;HC309814;NM_032268 AAH07235;AAK69753;ABZ92077;BAG57678;CAB66837;CAD39100;CAL37666;CBJ21214;EAW95668;EAW95669;EAW95670;EAW95671;NP_115644;Q8ND25 Hs.427284 1651556;1660511;1668518;1691112;1694526;1698440;1707592;1722063;1738813;2153096;2168608;2181666;2218696 A004T26;D16S2877;D16S3184;G43020;G59919;RH102768;RH36321;RH64877;RH68389;RH68472;SHGC-61187;SHGC-84608;ZNRF1__4725 DKFZp434E229;FLJ14846;FLJ46491;MGC15430;NIN283 E3 ubiquitin-protein ligase ZNRF1;OTTHUMP00000174944;OTTHUMP00000174945;nerve injury gene 283;nerve injury-induced gene 283 protein;zinc and ring finger protein 1;zinc/RING finger protein 1 APPROVED protein-coding ENSG00000186187 18452 15893 612060 REVIEWED 1345671 ZNRF4 zinc and ring finger 4 19 19 19 p13.3 5392967 5394408 + 5406426 5407867 + 5455426 5456867 + 1580863;6480464 15489334;15057824;12477932;10191088;19690564;21205830 148066 Q8WWF5 ABBA01056010;AC005764;AK098722;AK292251;AMYH01009361;BC017592;CH471139;HC007388;HC044533;NM_181710 AAC62428;AAH17592;BAF84940;CBH19499;CBH30596;EAW69169;NP_859061;Q8WWF5 Hs.126496 RNF204;SPERIZIN;Ssrzf1;spzn RING finger protein 204;zinc/RING finger protein 4 protein-coding ENSG00000105428 17726 15895 612063 VALIDATED 1347809 ZP1 zona pellucida glycoprotein 1 (sperm receptor) 11 11 q12.2 60391591 60399740 + 60635015 60643164 + 6480464 15142998;18033806;16554811;15860499;15461625;12477932;10542331;7592984;20532885;19423540;20406964;20438785;20504872;20831819;22889493 22917 H0YG11;P60852 ABBA01021516;AC004126;AI208352;AI766401;AMYH01003668;AP000777;BC067899;CH471076;CR741030;NM_207341 AAH67899;EAW73903;NP_997224;P60852 Hs.172130 5113431 RH92237 MGC87693 OTTHUMP00000236890;zona pellucida protein 1;zona pellucida sperm-binding protein 1;zp-1 protein-coding ENSG00000149506 13187 15953 195000 VALIDATED 1342950 ZNRF3 zinc and ring finger 3 22 22 22 q12.1 13079876 13253406 + 27609890 27783475 + 29279755 29453476 + 6480464 15489334;15461802;14702039;12477932;12168954;11181995;10591208;10574461;16713569;19690564;19913121;20628086;20935629;22575959 84133 Q9ULT6 AB051436;ABBA01055249;ABBA01055250;ABBA01055251;ABBA01055252;ABBA01055253;ABBA01055254;AI244417;AK022809;AK025710;AK096397;AL021393;AL031596;AMYH01012694;BC009252;BC021570;BC042614;BC051344;BC069019;BC094857;CH471095;CR456397;NM_001206998;NM_032173;Z95113 AAH09252;AAH21570;AAH69019;AAH94857;AAI67805;BAB33319;BAG53280;CAG30283;CAK54386;CAK54685;EAW59767;EAW59768;EAW59769;EAW59770;NP_001193927;NP_115549;Q9ULT6 Hs.604200;Hs.655242;Hs.732114 1662592;1674704;1690470;1693674;1717351;1747349;1747351;1747353;1747355;1747357;1747359;1747361;1756305;2125479;2127756;2152839;2186888;5037552 AFMA163XB9;D22S56;D8S2279;G29163;G65402;G65403;G65404;G65405;G65406;G65407;G65408;RH122166;RH45989;RH93409;SHGC-143256;SHGC-58601;STS-T95789;WI-20033 BK747E2.3;RNF203 E3 ubiquitin-protein ligase ZNRF3;OTTHUMP00000198936;OTTHUMP00000198937;OTTHUMP00000198938;RING finger protein 203;novel C3HC4 type Zinc finger (ring finger);zinc/RING finger protein 3 protein-coding ENSG00000183579 18126 612062 VALIDATED 735363 ZP2 zona pellucida glycoprotein 2 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. [provided by RefSeq, Jul 2008] 16 16 p12 21116274 21130369 - 21208773 21222868 - 1580863;6480464 15950651;8385033;17474147;18033806;16407501;15489334;14511786;12852850;12477932;11940668;11854410;11804956;11784014;11739644;10924747;10864856;10570015;10493829;11751269;22889493 7783 Q05996;Q4VAP1 ABBA01028294;AF001550;AK293805;AK308820;AK310454;AK313003;AMYH01007348;BC096304;BC096305;BC096306;BC096307;CH471228;M90366;NM_003460 AAA61335;AAB67599;AAH96304;AAH96305;AAH96306;AAH96307;BAG35839;BAG57212;EAW66859;EAW66860;NP_003451;Q05996 Hs.73982 1789330;2164563 G67892;RH71391 ZPA;Zp-2 OTTHUMP00000115849;zona pellucida glycoprotein ZP2;zona pellucida protein A;zona pellucida sperm-binding protein 2 APPROVED protein-coding ENSG00000103310 13188 01689 182888 REVIEWED 1606973 ZPLD1 zona pellucida-like domain containing 1 3 3 3 q12.3 100549115 100593973 + 103636549 103681375 + 102153859 102198685 + 6480464 18632209;12477932;20237496;20950786;21490949;23192594 131368 Q8TCW7 ABBA01061760;AC069529;AMYH01013364;AY090780;BC021279;BC031261;BC143817;CH471052;NM_175056 AAH21279;AAH31261;AAM09816;EAW79766;NP_778226;Q8TCW7 Hs.352213 1337809;1757929;1760157;2143323;5493923 AB070185;D3S2459;D3S2970;SHGC-132262;SHGC-146878 OTTHUMP00000214440;OTTHUMP00000214467;OTTHUMP00000214470;ZP domain-containing protein 1;zona pellucida-like domain-containing protein 1 protein-coding ENSG00000170044 27022 14048 PROVISIONAL 1345250 ZP4 zona pellucida glycoprotein 4 The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008] 1 1 q43 236112333 236120558 - 238041164 238054222 - 1580863;6480464 15950651;18029348;18667750;17554300;16710414;16407501;15805145;15489334;15142998;12477932;11940668;11854410;11804956;11291774;10864856;7841460;20708005;11053263;19004505;19625618;19626040;20379614;21173071 57829 Q12836 ABBA01033184;ABBA01033185;AK314151;AL359924;AMYH01001865;BC069521;BE439656;CH471098;DV080723;NG_008799;NM_021186;U05781 AAA74391;AAH69521;BAG36838;EAW70072;NP_067009;Q12836 Hs.136241 1858480;5111343 SHGC-76534;SHGC-76577 ZBP;ZP1;ZPB;Zp-4 OTTHUMP00000037567;zona pellucida B protein;zona pellucida protein B;zona pellucida sperm-binding protein 4 APPROVED protein-coding 15770 18363 613514 REVIEWED 1352592 ZP3 zona pellucida glycoprotein 3 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008] 7 7 q11.23 75864804 75909324 + 76026841 76071388 + 1580863;6480464 15950651;18667750;18502569;18033806;17192598;16407501;16344560;15379548;14702039;14673092;12477932;12035074;11940668;11854410;11804956;10864856;10099990;8984187;8467708;8269854;7789967;2385582;1478648;11739644;19004505;19246320;20237496;11751269;19945174;9609824;21906983;22889493;19700799 7784 E9PFI9;H0Y3M4;P21754 A18567;ABBA01005915;ABBA01005916;ABBA01005917;ABBA01005918;ABBA01005919;AC005522;AK056788;AK292763;AMYH01017565;AMYH01017566;BC113949;BI828655;CA421411;CH471220;DB328313;M60504;NM_001110354;NM_007155;S52509 AAA13165;AAA61336;AAI13950;AAI40333;AAI46483;BAF85452;CAA01398;EAW71807;EAW71808;NP_001103824;NP_009086;P21754 Hs.656137 1340350;2156163;2157980;2167953;5014740;5022578;5091112;7186921 D17S610;D1S1423;D7S2470;D7S2875;STS-M60504;STS-U10099;ZP3A ZP3A;ZP3B;ZPC;Zp-3 OTTHUMP00000161137;OTTHUMP00000161138;OTTHUMP00000208547;ZP3A/ZP3B;sperm receptor;zona pellucida glycoprotein 3A (sperm receptor);zona pellucida glycoprotein 3B;zona pellucida glycoprotein ZP3;zona pellucida protein C;zona pellucida sperm-binding protein 3 APPROVED protein-coding ENSG00000188372 13189 01690 182889 REVIEWED 1351452 ZPBP zona pellucida binding protein ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008] 7 7 7 p14.3 50071197 50226950 - 49947585 50103372 - 49977023 50132860 - 1580863;6480464 17664285;15489334;12883658;12853948;12477932;10924747;9378618;21102463;21116278;21911476;21988832;23128233 11055 C9JIS7;F8WDW2;Q9BS86 AACC02000076;ABBA01008171;ABBA01008172;ABBA01008173;AC034148;AC096568;AI207093;AK312799;AMYH01017243;AMYH01017244;BC005223;BT006822;CH236955;CH471128;D17570;NM_001159878;NM_007009 AAH05223;AAP35468;AAS07517;AAS07558;ABM84723;ABM92246;BAA04495;EAL23903;EAW60984;NP_001153350;NP_008940;Q9BS86 Hs.388841 1786218;2141242;2170424 D7S1413;GDB:1317932;SHGC-107173 FLJ93221;ZPBP1 OTTHUMP00000159580;OTTHUMP00000208840;zona pellucida binding protein 1;zona pellucida-binding protein 1 APPROVED protein-coding ENSG00000042813 15662 18364 608498 VALIDATED 1318817 ZRANB1 zinc finger, RAN-binding domain containing 1 10 10 10 q26.13 120404500 120449814 + 126620682 126665995 + 126630692 126676005 + 1580863;6480464 18281465;11463333;12477932;18029348;19615732;23277359;21987572;22157957;20622874;21139048;21906983;19373254 54764 Q9UGI0 ABBA01034159;ABBA01034160;ABBA01034161;AJ252060;AK302810;AK307386;AL731571;AL731577;AL832925;AMYH01003158;AMYH01003159;BC048281;CH471066;NM_017580 AAI52729;BAG64010;CAB64449;CAH10620;EAW49252;EAW49253;NP_060050;Q9UGI0 Hs.595158 1653489;2114392;2139310;2140343;2158804;2170169 RH47020;SGC38118;SHGC-30414;SHGC-36008;SHGC-36286;STS-H24463 DKFZp762P2216;TRABID OTTHUMP00000020698;TRAF-binding domain-containing protein;TRAF-binding protein domain;hTrabid;ubiquitin thioesterase ZRANB1;zinc finger Ran-binding domain-containing protein 1 protein-coding ENSG00000019995 18224 11738 611749 VALIDATED 1603918 ZPBP2 zona pellucida binding protein 2 17 17 17 q12 34684720 34694413 + 35277981 35287675 + 38024455 38034149 + 6480464 17664285;16344560;15489334;12883658;12477932;21102463;22271045;20639880;19732864;21297633;22464253;23000144;23128233 124626 J3KRM0;J3KSF6;Q6X784 ABBA01031852;AC079199;AC090844;AK292383;AMYH01008376;AY251603;AY251604;BC043152;CH471152;DB056422;HC007392;HC044535;NM_198844;NM_199321 AAH43152;AAP83950;AAP83951;BAF85072;CBH19501;CBH30597;EAW60610;EAW60611;NP_942141;NP_955353;Q6X784 Hs.367245 2110837 ZPBP2__4726 MGC41930;ZPBPL OTTHUMP00000163979;OTTHUMP00000163980;ZPBP-like protein;zona pellucida binding protein-like;zona pellucida-binding protein 2 protein-coding ENSG00000186075 20678 18365 608499 VALIDATED 5683658 ZRANB2-AS1 ZRANB2 antisense RNA 1 1 p31.1 71512189 71532867 + 12477932 100132618 ABBA01074473;AL031429;AL512443;AMYH01000701;BC070115;NR_038420 Hs.720513 1645191;1654638;1668191;1736072;1793168;1853672;2145613;2154062;2171639 D1S2013E;PMC197251P3;RH17537;RH35994;RH47523;RH64689;RH68214;RH68377;SHGC-36432 APPROVED miscrna 43594 VALIDATED 5683643 ZRANB2-AS2 ZRANB2 antisense RNA 2 (head to head) 1 p31.1 71547007 71703406 + 12477932;16341674 100852410 ABBA01074472;ABBA01074473;AL360297;AL512443;AMYH01000701;BC054887;BM766420;NR_046217 Hs.535534 APPROVED miscrna ENSG00000229956 43595 VALIDATED 1346488 ZSCAN1 zinc finger and SCAN domain containing 1 19 19 19 q13.43 55588926 55609487 + 63237246 63257811 + 58545434 58565999 + 737633;1580863 12477932 18029348;15489334;14702039;20211142;21832049 284312 Q8NBB4 ABBA01020786;ABBA01020787;AC008751;AC008969;AK091098;AMYH01010031;AY280370;BC048099;BC107729;CH471135;NM_182572 AAH48099;AAI07730;AAQ16582;BAC03582;EAW72550;EAW72551;NP_872378;Q8NBB4 Hs.643437 1709198;2110839 SHGC-85778;ZSCAN1__4727 FLJ33779;MGC104472;MZF-1;ZNF915 zinc finger and SCAN domain-containing protein 1;zinc finger with SCAN domain 1 protein-coding ENSG00000152467 23712 15897 VALIDATED 1347508 ZRSR1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 5 5 5 q22.2 108172866 108174347 + 112253823 112257163 + 112227313 112228794 + 1580863;6480464 15489334;12558503;12477932;11118443;9490301;9237760;8630064;8586425;7956352;16305817;21166792;9001233 7310 Q15695 ABBA01069051;AC008536;AMYH01015548;BC104811;BC113599;D49676;NG_005419;U51224 AAA98669;BAA08532;Q15695 Hs.637001 1646623;1680677;2146750;5493265 RH71327;RH71328;RH80911;UniSTS:485519 FLJ94140;MGC142159;U2AF1-RS1;U2AF1L1;U2AF1P;U2AF1RS1;U2AFBPL u2(rnu2) small nuclear rna auxillary factor 1-like 1 pseudo 12456 03049 601079 INFERRED 1349256 ZRANB3 zinc finger, RAN-binding domain containing 3 2 2 2 q21.3 129670506 129999572 - 135674041 136005276 - 135957571 136288806 - 6480464 16381901;15489336;15489334;14702039;12477932;11230166;11076863;22759634;20379614;21078962;22118674;22704558;22705370;21145461 84083 F5GYN7;F8WCT9;Q8N1P4 ABBA01028167;ABBA01028168;ABBA01028169;ABBA01028170;ABBA01028171;ABBA01028172;ABBA01028173;ABBA01028174;ABBA01028175;ABBA01028176;ABBA01028177;ABBA01028178;ABBA01028179;ABBA01028180;ABBA01028181;AC012450;AC016742;AC017031;AC020602;AC064850;AK095362;AK131303;AK304601;AL136824;AL833322;AMYH01011121;AMYH01011122;AMYH01011123;BC089429;BX647838;CH471058;NM_032143 AAH89429;AAX93066;AAY14765;BAC04536;BAG54763;BAG65387;CAB66758;CAL37572;CAL37580;EAX11629;EAX11630;EAX11631;EAX11632;EAX11633;EAX11634;EAX11635;EAX11636;NP_115519;Q5FWF4 Hs.658422 1673593;1683651;1708528;1772342;2142547;2143346;2145350;2163264;5037552 A006P05;D8S2279;RH36331;RH48895;RH69631;RH93721;SHGC-53053;SHGC-85039;WI-20662 4933425L19Rik;AH2;MGC105033;MGC75012 DNA annealing helicase and endonuclease ZRANB3;OTTHUMP00000197448;OTTHUMP00000197449;annealing helicase 2;zinc finger Ran-binding domain-containing protein 3 protein-coding ENSG00000121988 25249 15896 PROVISIONAL 736628 ZRANB2 zinc finger, RAN-binding domain containing 2 1 1 p31 71301562 71319333 - 71528974 71546972 - 1580863;6480464 16344560;8889548;9931435;16982639;17353931;17620599;19052380;17081983;15489334;15302935;14702039;14559993;12657633;12477932;11448987;11337467;11230166;10773668;8125298;21145461;19615732;22939629;22863883;17620012;21988832;22113938;23184937;23666063;22379092;21139048;21907836 9406 O95218;Q68DP0 AB209568;ABBA01074473;AF065391;AF065392;AK023252;AK055983;AK123114;AK222858;AL136945;AL512443;AMYH01000701;AU100296;BC010962;BC033648;BC039814;BU677906;BX538141;CH471059;CR749325;CR749665;DA523601;NM_005455;NM_203350 AAD09746;AAD09747;AAH39814;ABZ92458;BAD92805;BAD96578;CAB66879;CAH18180;CAH18456;EAX06432;EAX06433;EAX06434;EAX06435;NP_005446;NP_976225;O95218 Hs.194718 1645191;1654638;1668191;1736072;1853672;2145613;2154062;2156389;2171639 D1S2013E;RH17537;RH35994;RH47523;RH64636;RH64689;RH68214;RH68377;SHGC-36432 DKFZp686J1831;DKFZp686N09117;FLJ41119;ZIS;ZIS1;ZIS2;ZNF265 OTTHUMP00000011240;OTTHUMP00000011241;zinc finger Ran-binding domain-containing protein 2;zinc finger protein 265;zinc finger, splicing;zinc-finger protein 265;zinc-finger, splicing protein-coding ENSG00000132485 13058 09185 604347 VALIDATED 1321829 ZSCAN10 zinc finger and SCAN domain containing 10 16 16 16 p13.3 3344365 3348331 - 3078896 3082862 - 3138895 3142861 - 1580863;6480464 14702039;12477932;9653642;8889549;22911660;22011711 84891 H0YFS6;I3L0Q3;I3L1J3;I3NI43;Q96SZ4 ABBA01026726;AC108134;AK027455;AK074736;AMYH01007089;BC111367;BC114452;CH471112;NM_032805 AAI14453;AAI67837;BAB55124;BAG51995;EAW85403;NP_116194;Q96SZ4 Hs.334515 1685001 RH91869 FLJ14549;ZNF206 zinc finger and SCAN domain-containing protein 10;zinc finger protein 206 protein-coding ENSG00000130182 12997 15747 PROVISIONAL 1346246 ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008] X X X p22.1 19926058 19958865 + 15718495 15751304 + 15808574 15841383 + 1580863;6480464 15146077;19204726;17081983;15489334;14702039;12477932;10508479;10330123;9237760;8586425;21041408;21832049;22389253 8233 A6NDW0;Q15696 ABBA01071352;ABBA01071353;ABBA01071354;ABBA01071355;ABBA01071356;ABBA01071357;ABBA01071358;ABBA01071359;AC004106;AC096510;AK090845;AK309673;AMYH01022110;BC050451;BC065719;BC113454;BC113480;CH471074;D49677;NG_012746;NM_005089 AAH50451;AAI13455;AAI13481;ADR83329;BAA08533;EAW98900;EAW98901;EAW98902;NP_005080;Q15696 Hs.171909 1680677;2146750;5014051 D8S2278;RH71328;RH80911 MGC142014;MGC142040;U2AF1-RS2;U2AF1L2;U2AF1RS2;URP CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2;OTTHUMP00000022976;U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2;U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2;U2AF35-related protein;renal carcinoma antigen NY-REN-20 APPROVED protein-coding ENSG00000169249 23019 02068 300028 REVIEWED 1345307 ZSCAN12P1 zinc finger and SCAN domain containing 12 pseudogene 1 6 6 p22.1 29664990 29669554 + 28058585 28063493 + 14702039;12477932 221584 ABBA01038015;AK055113;AK127188;AL121944;AMYH01016189;BC040524;BU632557;NR_024063 Hs.634723;Hs.659413 1645340 RH66807 ZNF187p1;ZNF305P1;ZNF96L1;ZNF96P1;ZSCAN12L1;dJ313I6.7 zinc finger protein 305 pseudogene 1 APPROVED pseudo 13850 VALIDATED 1346257 ZSCAN12 zinc finger and SCAN domain containing 12 6 6 6 p21 29953038 29973981 - 28465409 28475497 - 28346598 28367544 - 6480464 15489334;14574404;12477932;9455477;9244436;8889548;17000644 9753 O43309 AB007886;ABBA01038018;AK289802;AL358785;AL602228;AMYH01016189;AMYH01016190;BC041661;CF138460;CH471081;CX868415;DB522087;NM_001163391;NR_028077;Z98745 AAH41661;ABZ92462;BAA24856;BAF82491;EAX03161;EAX03162;NP_001156863;O43309 Hs.134816 2126741;2174221;5022578 D1S1423;D6S2278;D6S2302 KIAA0426;ZFP96;ZNF29K1;ZNF305;ZNF96;dJ29K1.2 OTTHUMP00000016205;zinc finger and SCAN domain-containing protein 12;zinc finger protein 305;zinc finger protein 96;zinc finger protein 96 (f15034) protein-coding 13172 15767 603978 VALIDATED 7248007 ZSCAN16-AS1 ZSCAN16 antisense RNA 1 12477932 100129195 ABBA01038015;AK127889;AK309286;AL121944;AL358933;AMYH01016189;BC043177;HY052668;NR_103455;NR_103456;XR_171037;XR_171560;XR_172471 BAC87176 Hs.659413;Hs.744553 miscrna ENSG00000269293 48982 VALIDATED 1345084 ZSCAN16 zinc finger and SCAN domain containing 16 6 6 6 p22.1 29698448 29703918 + 28200366 28205836 + 28092387 28097857 + 1580863;6480464 17646705;16189514;15489334;14702039;14574404;12477932;16169070;21832049;18029348 80345 Q9H4T2 ABBA01038015;AK025844;AK294017;AK309837;AL358933;AMYH01016189;BC004255;CH471081;CS300526;NM_025231 AAH04255;ABZ92203;BAB15257;BAG57378;CAK32190;EAX03134;NP_079507;Q9H4T2 Hs.656641 1778085;2145672;2147537;2189659 D6S2214;RH41988;RH46748;WI-13567 FLJ22191;ZNF392;ZNF435;dJ265C24.3 OTTHUMP00000016197;zinc finger and SCAN domain-containing protein 16;zinc finger protein 392;zinc finger protein 435 protein-coding ENSG00000196812 20813 15792 PROVISIONAL 1353276 ZSCAN20 zinc finger and SCAN domain containing 20 1 1 1 p34.3 32210051 32233817 + 33710819 33734582 + 33938232 33961995 + 1580863;6480464 16429158;16189514;15489334;12477932;2288909;18029348;20379614;22505724 7579 P17040 ABBA01023376;AC115285;AI651390;AI699720;AK131405;AK290195;AL138837;AMYH01000481;BC008827;BC011404;CH471059;DC336055;NM_145238;X52360 AAH08827;AAH11404;BAD18552;BAF82884;CAA36586;EAX07454;EAX07455;EAX07456;NP_660281;P17040 Hs.442705 1680523 RH36794 KOX29;ZFP-31;ZNF31;ZNF360 OTTHUMP00000004352;OTTHUMP00000179080;zinc finger and SCAN domain-containing protein 20;zinc finger protein 31;zinc finger protein 31 (kox 29);zinc finger protein 360;zinc finger protein KOX29 protein-coding ENSG00000121903 13093 15769 611315 VALIDATED 1343704 ZSCAN18 zinc finger and SCAN domain containing 18 19 19 19 q13.43 55638556 55673723 - 63287018 63301389 - 58595209 58629793 - 6480464 21832049;22939629;16344560;15489334;14702039;12477932;20211142;21890473 65982 M0QXJ0;M0QZ65;M0R111;M0R1U9;M0R364;M0R3C6;Q8TBC5 ABBA01020783;ABBA01020784;AC008751;AK022957;AK096238;AK126140;AK160376;AK225548;AK294376;AK296417;AL049448;AMYH01010031;AY279352;AY280799;BC006205;BC017411;BC022846;BG036776;CH471135;DA611622;DC328006;DC330828;DC354023;NM_001145542;NM_001145543;NM_001145544;NM_023926;NR_027135 AAH06205;AAH17411;AAH22846;AAQ16303;AAQ62849;ABZ92052;BAB14332;BAD18719;BAG57634;BAG59079;CAH10738;EAW72557;EAW72558;EAW72559;NP_001139014;NP_001139015;NP_001139016;NP_076415;Q8TBC5 Hs.235390 2117558;2177056 RH35992;WI-21591 DKFZp586B1122;FLJ12895;FLJ38919;FLJ44152;MGC2427;MGC4074;MGC8682;ZNF447 zinc finger and SCAN domain-containing protein 18;zinc finger protein 447 protein-coding ENSG00000121413 21037 07802 VALIDATED 1315325 ZSCAN22 zinc finger and SCAN domain containing 22 19 19 19 q13.43 55882370 55897698 + 63530197 63545510 + 58838385 58853712 + 1580863;6480464 12477932;8889548;8812445;7698749;2850480;1946370;1505991;22505724 342945 P10073 ABBA01020773;AC010642;AC012313;AK128716;AMYH01010034;BC101630;BC112277;BM669173;BX537741;BX647879;CH471135;M20676;M88360;NM_181846 AAA61318;AAI01631;AAI12278;ADR83191;BAC87588;CAD97822;EAW72574;NP_862829;P10073 Hs.388162 1680633;1850748;5022200;5022578;5037552 D19S829;D1S1423;D8S2279;L18426;RH80657 HKR2;MGC126679;MGC138482;ZNF50 GLI-Kruppel family member HKR2;krueppel-related zinc finger protein 2;zinc finger and SCAN domain-containing protein 22;zinc finger protein 50 protein-coding ENSG00000182318 4929 01315 165260 VALIDATED 1320617 ZSCAN21 zinc finger and SCAN domain containing 21 7 7 7 q22.1 94381989 94397233 + 99485353 99500599 + 99647417 99662663 + 1580863;6480464 16540086;15489334;12690205;12477932;11230166;10508479;7486829;2014798;19549071;22990118;22505724 7589 C9JHD9;G3V1M0;Q9Y5A6 AACC02000084;ABBA01013239;AC093619;AF155100;AK075324;AK292267;AK301871;AK313884;AL136865;AMYH01017726;BC033129;BC047309;BI764964;BM991519;CH236956;CH471091;CR749301;NM_145914 AAD42866;AAH33129;AAH47309;ABZ92032;BAF84956;BAG52109;BAG63308;CAB66799;CAH18156;EAL23860;EAW76609;EAW76610;EAW76611;NP_666019;Q9Y5A6 Hs.632294 1687520;2116511;2167194;2174265 GDB:4585163;RH80109;SGC30599;STS-W89121 DKFZp434L134;DKFZp686H10254;NY-REN-21;ZNF38;Zipro1 OTTHUMP00000206179;OTTHUMP00000206945;renal carcinoma antigen NY-REN-21;zfp-38;zinc finger and SCAN domain-containing protein 21;zinc finger protein 38;zinc finger protein 38 (KOX 25);zinc finger protein 38 homolog;zinc finger protein NY-REN-21 antigen protein-coding ENSG00000166529 13104 03162 601261 VALIDATED 1606268 ZSCAN2 zinc finger and SCAN domain containing 2 The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] 15 15 15 q25.2 61569776 61592474 + 82945253 82967951 + 85144249 85166947 + 6480464 18029348;15489334;14702039;12477932;8889548;1937051;17207965;20531441;22505724 54993 F5GY18;F5GZ04;F5H1K4;F5H2D8;F5H3F3;F5H4P1;F5H789;F8W6Y9;Q7Z7L9 ABBA01052943;ABBA01052944;AC048382;AK000602;AK128624;AK131309;AK291224;AMYH01006869;AW452266;AY262259;AY279349;BC041620;BC136342;BU733585;CH471101;CK003500;NM_001007072;NM_017894;NM_181877 AAH41620;AAI36343;AAP36989;AAQ62846;ADQ32044;BAA91283;BAC87537;BAD18475;BAF83913;EAX01934;EAX01935;EAX01936;NP_001007073;NP_060364;NP_870992;Q7Z7L9 Hs.594023 1649829;1736478;2141967;5014051;5022578;5022651;5037552 A008C21;D11S2921;D15S689E;D1S1423;D8S2278;D8S2279;WI-16975 FLJ20595;ZFP29;ZNF854 OTTHUMP00000082614;OTTHUMP00000082615;OTTHUMP00000082616;OTTHUMP00000237252;OTTHUMP00000237253;OTTHUMP00000237255;zfp-29;zinc finger and SCAN domain-containing protein 2;zinc finger protein 29 homolog;zinc finger protein 854 APPROVED protein-coding ENSG00000176371 20994 15898 REVIEWED 2290512 ZSCAN30 zinc finger and SCAN domain containing 30 18 18 18 q12.2 29638924 29678100 - 31084629 31124191 - 32831023 32870196 - 6480464 18029348;14702039;12801647 100101467 C9JCM2;K7EPB0;K7ERA9;M0QZC3;M0QZP2;M0R1Y0;Q86W11 ABBA01022450;ABBA01022451;AC011815;AF303374;AK001503;AK057386;AK128697;AK131291;AK303447;AL832180;AMYH01008936;AY234408;BX116643;CH471088;DC409152;NM_001112734;NM_001166012 AAL26786;AAO89074;BAD18462;BAG64492;EAX01344;NP_001106205;NP_001159484;Q86W11 Hs.619840 1675812;1684694;1687107;1754613;2174470;5016862;5020423 D11S1053;RH16480;RH39232;RH78807;RH94316;SHGC-132945;SHGC-34458 FLJ16245;FLJ46864;ZNF397OS;ZNF917 ZNF-WYM;ZNF397 opposite strand;zinc finger and SCAN domain-containing protein 30;zinc finger protein 397 opposite strand;zinc finger protein 397OS APPROVED protein-coding ENSG00000186814 33517 VALIDATED 1353335 ZSCAN23 zinc finger and SCAN domain containing 23 6 6 6 p22.1 30006860 30017706 - 28482851 28519256 - 28400432 28411279 - 6480464 15489334;14702039;14574404;12477932 222696 G3V1D5;Q3MJ62 ABBA01038018;ABBA01038019;AK092117;AK309235;AL833347;AMYH01016190;BC101557;BC101559;BX283350;CH471081;NM_001012455;Z98745 AAI01558;AAI01560;ABZ92213;EAX03164;NP_001012458;Q3MJ62 Hs.721841 FLJ99276;MGC126606;MGC126608;ZNF390;ZNF453;dJ29K1.3;dJ29K1.3.1 OTTHUMP00000017971;zinc finger and SCAN domain-containing protein 23;zinc finger protein 390;zinc finger protein 453 protein-coding ENSG00000187987 21193 VALIDATED 1318498 ZSCAN25 zinc finger and SCAN domain containing 25 This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008] 7 7 7 q22.1 93948800 93964259 + 99052507 99067976 + 99214571 99230030 + 6480464 16314882;14702039;12690205;12477932;11179890 221785 C9K079;Q6ZML3 AACC02000084;ABBA01013252;AC005020;AK057030;AK160369;AMYH01017722;AW195325;BC069644;BC074902;BC074903;BC089402;BC114573;BC114941;BX640720;BX648158;CH236956;CH471091;NM_145115 AAH69644;AAH74902;AAH74903;AAH89402;AAI14574;AAI14942;BAD18712;BAG51846;CAE45839;EAL23869;EAW76643;EAW76644;EAW76645;EAW76646;EAW76647;NP_660090;Q6NSZ9 Hs.446297 2110821;2138926;5022651;5024039;5037552 D11S2921;D16S325;D8S2279;RH46231;ZNF498__4860 ZNF498 OTTHUMP00000082680;zinc finger and SCAN domain containing 25;zinc finger and SCAN domain-containing protein 25;zinc finger protein 498 APPROVED protein-coding ENSG00000197037 21961 15807 VALIDATED 2293895 ZSCAN5B zinc finger and SCAN domain containing 5B 19 19 19 q13.43 53744765 53748128 - 61392870 61396157 - 56701058 56704421 - 15057824;11181995 342933 A6NJL1;K7EJD1;K7ESD3 ABBA01020837;AC024580;AI041519;AMYH01010019;BX094413;CH471135;DW009806;EG328459;NM_001080456 A6NJL1;EAW72432;NP_001073925 Hs.132130 ZNF371;ZNF495B zinc finger and SCAN domain-containing protein 5B protein-coding ENSG00000197213 34246 VALIDATED 1345585 ZSCAN26 zinc finger and SCAN domain containing 26 6 6 6 p21.31 29841233 29852427 + 28342872 28353960 + 28234788 28245981 + 1580863;6480464 1569959;16344560;14702039;12477932;21988832 7741 B3KTR1;Q16670 ABBA01038015;AJ420533;AK095948;AK293524;AK295393;AK297613;AK301081;AK315645;AL021997;AL526328;AL832741;AMYH01016189;BC013951;BC013962;BX537535;CH471081;DA167287;DA566660;DC353668;NM_001023560;NM_001111039;NM_152736;Z11773 AAH13951;AAH13962;ABZ92450;BAG38012;BAG53173;BAG57006;BAG58347;BAG59993;BAG62685;CAA77818;CAD97775;CAI46119;EAX03147;EAX03148;EAX03149;EAX03150;NP_001018854;NP_001104509;NP_689949;Q16670 Hs.157883 1647555;1668994;1754113;2121608;2160195 D6S1940;D6S2118;D6S2280;RH46597;SHGC-132144 MGC2815;SRE-ZBP;ZNF187 zinc finger and SCAN domain-containing protein 26;zinc finger protein 187 APPROVED protein-coding 12978 15746 VALIDATED 2293903 ZSCAN5C zinc finger and SCAN domain containing 5C 19 19 19 q13.43 53760860 53764530 + 61409095 61412381 + 56717154 56720823 + 15057824 649137 A6NGD5 ABBA01020837;AC011506;AMYH01010019;NG_012782 A6NGD5 ZNF495C pseudo 34294 INFERRED 2974875 ZSCAN5D zinc finger and SCAN domain containing 5D 19 19 q13.43 61443585 61450678 + 56755412 56758866 + 15057824 646698 P0CG00 ABBA01020837;AC011506;AMYH01010019;CH471135;XM_001725568;XM_003403711;XM_003960783 EAW72435;P0CG00;XP_001725620;XP_003403759;XP_003960832 ZNF495D putative zinc finger and SCAN domain-containing protein 5D protein-coding ENSG00000267908 37706 MODEL 1343279 ZSCAN32 zinc finger and SCAN domain containing 32 16 16 16 p13.3 3638848 3657809 - 3372086 3391026 - 3432085 3451025 - 1580863 16189514;14702039;12477932;20211142;21906983;19060904 54925 B4DR24;B4DWL5;I3L1K0;I3L1S7;I3L2L7;I3L2V3;I3L3J2;I3L3Y8;I3L4W6;Q9NX65 ABBA01026740;AC025283;AK000424;AK056463;AK291213;AK299070;AK301586;AMYH01007093;AY261676;AY279347;AY279348;BC002859;BC017015;CH471112;NM_017810 AAH02859;AAP57398;AAQ62844;AAQ62845;BAA91155;BAF83902;BAG61136;BAG63077;EAW85369;EAW85370;EAW85371;EAW85372;NP_060280;Q9NX65 Hs.592078 2116978;2134686 SHGC-60797;SHGC-61089 FLJ20417;FLJ31901;MGC4179;ZNF434 HCCS-5;OTTHUMP00000159718;human cervical cancer suppressor gene 5 protein;zinc finger and SCAN domain-containing protein 32;zinc finger protein 434 APPROVED protein-coding ENSG00000140987 20812 15791 PROVISIONAL 1605639 ZSCAN31 zinc finger and SCAN domain containing 31 ZNF323 is a member of the subfamily of C2H2 Kruppel-like zinc finger transcription factors that have a SCAN box domain (Pi et al., 2002 [PubMed 12147252]).[supplied by OMIM, Mar 2008] 6 6 6 p21.31 29898957 29930489 - 28400493 28429951 - 28292514 28304152 - 6480464 18029348;16344560;14702039;14574404;12477932;12147252;8125298;20211142 64288 C9IYT1;C9J1X2;C9J423;C9J6S7;C9JAI0;C9JBH3;C9JH14;C9JHB1;C9JIC2;C9JPM5;C9JUE1;Q96LW9;Q96QL1 ABBA01038017;AF513019;AK027060;AK057702;AK095261;AK123280;AK225382;AL021997;AL833416;AL833617;AMYH01016189;BC008490;BC065241;CH471081;DA875036;DA879276;DN995648;NM_001135216;NM_001243241;NM_001243242;NM_001243243;NM_001243244;NM_030899 AAH08490;AAH65241;AAM47006;ABZ92202;BAB15643;BAB71548;BAG53016;CAD38641;EAX03152;EAX03153;EAX03154;EAX03155;EAX03156;NP_001128688;NP_001230170;NP_001230171;NP_001230172;NP_001230173;NP_112161;Q96LW9 Hs.656413 1682890;1697232;2110811;2135295;2171183;2189651 D6S2226;D6S2279;D6S2303;RH102110;RH93781;ZNF323__4820 FLJ23407;FLJ41286;ZNF20-Lp;ZNF310P;ZNF323;dJ874C20.2 OTTHUMP00000016202;OTTHUMP00000211131;OTTHUMP00000211132;OTTHUMP00000211133;OTTHUMP00000211141;zinc finger and SCAN domain-containing protein 31;zinc finger protein 310 pseudogene;zinc finger protein 323 APPROVED protein-coding ENSG00000235109 14097 15772 610794 VALIDATED 1605867 ZSCAN29 zinc finger and SCAN domain containing 29 15 15 15 q15.3 20421021 20432909 - 41437662 41449550 - 43650370 43662258 - 6480464 16344560;15489334;14702039;12477932;12434312;22505724 146050 C9K0J8;H3BMU4;H3BUW4;H3BVH1;Q05BJ4;Q8IWY8;Q96AG1 ABBA01038348;ABBA01038349;AC018924;AF525399;AK023525;AK093186;AK093377;AK098289;AK122788;AK123753;AMYH01006589;BC017179;BC040682;BC043612;BC062551;BC109270;BC109271;CH471125;DB183454;DB365228;NM_152455 AAH17179;AAH43612;AAI09271;AAI09272;AAO14995;BAC04088;BAC04147;BAG53731;EAW92600;EAW92601;EAW92602;NP_689668;Q8IWY8 Hs.418287 1678795;1789062;2144380;5014023;5016478 D13S1553;G65667;GDB:434012;RH93832;SGC31111 FLJ35867;MGC129894;MGC129895;ZNF690;Zfp690 KOX31-like zinc finger protein;OTTHUMP00000161325;zinc finger and SCAN domain-containing protein 29;zinc finger protein 690 protein-coding ENSG00000140265 26673 08766 VALIDATED 1351601 ZSCAN4 zinc finger and SCAN domain containing 4 The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010] 19 19 19 q13.43 55223846 55234060 + 62872115 62882317 + 58180303 58190520 + 6480464 15489334;15231748;14702039;12477932;20336070;20211142 201516 Q8NAM6 ABBA01020805;AC004017;AK092424;AMYH01010028;BC101738;BC101740;BX118882;CH471135;NM_152677 AAI01739;AAI01741;ABZ92211;BAC03886;EAW72523;NP_689890;Q8NAM6 Hs.469663 2110819 ZNF494__4858 FLJ35105;MGC126787;MGC126789;ZNF494 zinc finger and SCAN domain-containing protein 4;zinc finger protein 494 APPROVED protein-coding ENSG00000180532 23709 15899 613419 VALIDATED 1347881 ZSCAN5A zinc finger and SCAN domain containing 5A 19 19 19 q13.43 53776367 53783348 - 61424491 61431471 - 56732679 56739659 - 6480464 15489334;12477932;21832049 79149 B4DX98;K7EIX9;K7EMC4;K7EN85;K7EQW6;K7ESE4;K7ESN6;Q9BUG6 ABBA01020837;AC011506;AK098700;AK223485;AK301873;AMYH01010019;BC002636;BC043232;CH471135;NM_024303 AAH02636;AAH43232;ABM84055;ABM87407;BAC05386;BAD97205;BAG63310;EAW72433;EAW72434;NP_077279;Q9BUG6 Hs.177688 2186876 WI-11903 MGC4161;ZNF495;ZSCAN5 zinc finger and SCAN domain containing 5;zinc finger and SCAN domain-containing protein 5A;zinc finger protein 495 protein-coding ENSG00000131848 23710 15900 PROVISIONAL 5688630 ZSWIM5P1 zinc finger, SWIM-type containing 5 pseudogene 1 17 p12 15672034 15674739 - 100130110 ABBA01035676;AC015922;AMYH01008144;NG_022443 pseudo 43768 INFERRED 5688631 ZSWIM5P2 zinc finger, SWIM-type containing 5 pseudogene 2 17 p11.2 20487071 20489771 - 100132201 AC087499;AMYH01008258;NG_022447 1687932;1689259 RH47617;RH80845 pseudo 43769 INFERRED 5688623 ZSWIM5P3 zinc finger, SWIM-type containing 5 pseudogene 3 4 q28.2 130057087 130060895 - 391697 ABBA01044830;AC093826;AMYH01014515;NG_022037 pseudo 43770 INFERRED 1322798 ZSWIM2 zinc finger, SWIM-type containing 2 2 2 2 q32.1 181287838 181310094 - 187400452 187422142 - 187692207 187713897 - 737633;1580863;6480464 12477932 16522193;15489334;16189514;20198315;20379614;19851296;19690564;19850743 151112 F8WCC6;Q8NEG5 ABBA01062341;AC018735;AC103914;AK128006;AMYH01011337;BC031094;CH471058;HC007394;NM_182521 AAH31094;AAX82016;AAY14907;ADZ15964;BAG54618;CBH19502;EAX10929;NP_872327;Q8NEG5 Hs.375054 MEX;MGC33890;ZZZ2 E3 ubiquitin-protein ligase ZSWIM2;MEKK1-related protein X;OTTHUMP00000205380;ZZ-type zinc finger-containing protein 2;zinc finger SWIM domain-containing protein 2 protein-coding ENSG00000163012 30990 15902 VALIDATED 1345804 ZSWIM4 zinc finger, SWIM-type containing 4 19 19 19 p13.13 13800055 13836792 + 13767274 13804044 + 13906274 13943044 + 1580863;6480464 14702039;11214971 65249 E7ERX2;K7EJI0;K7ERJ6;Q9H7M6;Q9HA55 ABBA01029713;ABBA01029714;ABBA01029715;ABBA01029716;ABBA01029717;ABBA01029718;ABBA01029719;ABBA01029720;AC020916;AK022283;AK024452;AK299057;AMYH01009511;AMYH01009512;AMYH01009513;BG764264;CH471106;NM_023072 BAB14001;BAB15742;BAG61126;EAW84373;NP_075560;Q9H7M6 Hs.466015 2218698 ZSWIM4__4729 zinc finger SWIM domain-containing protein 4 protein-coding ENSG00000132003 25704 15904 VALIDATED 1347085 ZSCAN9 zinc finger and SCAN domain containing 9 6 6 6 p21.3 29799524 29807714 + 28301049 28309239 + 28193029 28201265 + 1580863;6480464 10567577;16189514;15489334;14574404;12477932;9244436;8125298;20211142 7746 E9PLJ4;E9PQL7;O15535 ABBA01038015;AK226035;AK304013;AL022393;AMYH01016189;AU310237;AY261373;AY550973;BC010374;CH471081;NM_001199479;NM_001199480;NM_006299;U62392;U88081;U88082 AAC51659;AAC51661;AAH10374;AAP94876;AAT52219;ABZ92451;ACE87046;ACE87728;BAG64928;EAX03140;EAX03141;NP_001186408;NP_001186409;NP_006290;O15535 Hs.100921;Hs.731936 1665582;1735626;2110075 D6S1238E;WI-13617;ZNF193_8753 PRD51;ZNF193 OTTHUMP00000016200;OTTHUMP00000229111;OTTHUMP00000229113;OTTHUMP00000229115;cell proliferation-inducing gene 12 protein;cell proliferation-inducing protein 12;zinc finger and SCAN domain-containing protein 9;zinc finger protein 193 APPROVED protein-coding ENSG00000137185 12984 03766 602246 VALIDATED 7247203 ZSWIM8-AS1 ZSWIM8 antisense RNA 1 100507331 ABBA01020308;AC022400;AL080182;AMYH01002830;BQ003405;NR_038357 Hs.631828 1712334;1745805;1774241;1778406;1778834;2139651;2166491;2166493 A002M12;A006I22;G20846;G54076;GDB:642165;RH79148;SHGC-31617;WI-21009 miscrna ENSG00000166507 45103 VALIDATED 1313910 ZSWIM1 zinc finger, SWIM-type containing 1 20 20 20 q13.12 41221311 41225363 + 43943287 43947312 + 44509848 44513905 + 1580863;6480464 15489334;12477932;11780052;21906983;19322201 90204 Q9BR11 ABBA01052669;ABBA01052670;AK291304;AL008726;AMYH01011939;BC001672;BC080525;CH471077;NM_080603 AAH01672;AAH80525;BAF83993;EAW75792;EAW75793;NP_542170;Q9BR11 Hs.517075 1742363;2156274;5014051;5015619;5022578;5037552;5117897 D11S3114;D1S1423;D8S2278;D8S2279;GDB:196483;GDB:631813;RH46893 C20orf162 OTTHUMP00000082588;zinc finger SWIM domain-containing protein 1 protein-coding ENSG00000168612 16155 15901 VALIDATED 1352510 ZSWIM6 zinc finger, SWIM-type containing 6 5 5 5 q12.1 57764647 57838148 + 60663758 60877756 + 60628100 60841999 + 1580863;6480464 16427614;12477932;11181995;10997877;10737800;22688191 57688 Q9HCJ5 AA740254;AB046797;ABBA01048371;ABBA01048372;ABBA01048373;ABBA01048374;ABBA01048375;ABBA01048376;AC008836;AC016636;AC122718;AMYH01015113;AMYH01015114;AW136453;BC039438;BF750632;BF751445;BX648543;CH471137;NM_020928 BAB13403;EAW51397;NP_065979;Q9HCJ5 Hs.650537 1687784;1701172;1760435;1785230;1785294;1788764;2218702 RH104214;RH130599;RH80565;SHGC-101475;SHGC-107763;SHGC-142682;ZSWIM6__4731 DKFZp779P0344;KIAA1577 OTTHUMP00000221941;zinc finger SWIM domain-containing protein 6 protein-coding ENSG00000130449 29316 PROVISIONAL 1321821 ZSWIM5 zinc finger, SWIM-type containing 5 1 1 1 p34.1 43764858 43955527 - 45254661 45444837 - 45482074 45672250 - 1580863;6480464 16710414;15146197;12477932;10819331;8889548;20379614 57643 Q9P217 AB040944;ABBA01050892;ABBA01050893;ABBA01050894;AL359473;AL592294;AMYH01000569;AMYH01000570;AMYH01000571;AMYH01000572;BC013836;BM711793;CN429257;NM_020883 BAA96035;NP_065934;Q9P217 Hs.656613 1336104;1658039;1679513;1679515;1692520;1692946;2218700 AL033912;AL034188;D1S2802;RH99099;SHGC-24391;SHGC-74713;ZSWIM5__4730 KIAA1511 OTTHUMP00000010505;zinc finger SWIM domain-containing protein 5;zinc finger, SWIM domain containing 5 protein-coding ENSG00000162415 29299 VALIDATED 1320317 ZSWIM3 zinc finger, SWIM-type containing 3 20 20 20 q13.12 41196757 41197127 + 43919669 43941177 + 44486220 44507770 + 1580863;6480464 15489334;14702039;12477932;11780052;11181995;16344560 140831 E7ETT6;Q96MP5 ABBA01052668;ABBA01052669;AK056641;AK302767;AK316214;AL008726;AMYH01011939;BC027611;BX385024;CH879653;DA520427;DC363945;NM_080752;NR_037628 AAH27611;BAB71239;BAG63976;BAH14585;EAW50407;NP_542790;Q96MP5 Hs.292135 1847918;2136087;2153696;2178518;2218896 G01537;RH16424;SHGC-34003;WI-10396;ZSWIM3__4728 C20orf164 OTTHUMP00000031187;zinc finger SWIM domain-containing protein 3;zinc finger, SWIM domain containing 3 protein-coding ENSG00000132801 16157 15903 VALIDATED 1344428 ZWINTAS ZW10 interactor antisense 1580863 8885239;10806105 53588 X98261 CAA66914;Q99546 Hs.591363 MPHOSPH5;MPP5 protein-coding 13196 1354249 ZWS1 Zellweger syndrome 1 7240710 2606480 7788 13197 202370;214100;266510;601539 1606167 ZSWIM7 zinc finger, SWIM-type containing 7 17 17 17 p12 15782880 15806013 - 15820599 15843731 - 15879874 15903006 - 6480464 16710300;14702039;12477932;21906983 125150 J3KRY0;J3QL97;J3QLK2;J3QRT4;J3QS07;J3QS31;Q19AV6 ABBA01035665;AC006251;AK093384;AMYH01008146;BC018807;BC044842;BC066344;BC089386;BC094855;BU075283;CH471222;DQ530600;NM_001042697;NM_001042698 AAI48544;AAI53133;ABF72190;EAX04486;EAX04487;EAX04488;NP_001036162;NP_001036163;Q19AV6 Hs.593985 1671295;1724627;1855169;2114839;5014051;5020443 D8S2278;RH121312;RH35936;RH69530;STS-AA011200;WI-14807 SWS1 OTTHUMP00000065573;OTTHUMP00000065574;SWIM domain containing Srs2 interacting protein 1;SWIM domain-containing and Srs2-interacting protein 1 homolog;SWIM-domain containing Srs2 interacting protein 1;SWIM-type zinc finger domain-containing protein 7;zinc finger SWIM domain-containing protein 7 protein-coding ENSG00000214941 26993 614535 VALIDATED 1351401 ZXDB zinc finger, X-linked, duplicated B The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010] X X X p11.21 61472396 61478037 + 57634994 57640635 + 57618269 57623910 + 1580863;6480464 15772651;8268913;19322201 158586 P98169 ABBA01069306;ABBA01069307;AK124513;AK289766;AL031115;AMYH01022462;AMYH01022463;AW150690;CH471154;L14788;NM_007157;Z99130 AAC37522;AAI57079;BAF82455;CAB16205;EAW93246;NP_009088;P98169 Hs.156257;Hs.649423 1702362;1739869;2147767;2179291;2185893 A008L35;DXS7576;DXS8275;GDB:454797;WI-14025 ZNF905;dJ83L6.1 OTTHUMP00000023421;zinc finger X-linked protein ZXDB APPROVED protein-coding ENSG00000198455 13199 11777 300236 VALIDATED 1344378 ZSWIM8 zinc finger, SWIM-type containing 8 10 10 10 q22.2 68828774 68844724 + 75215611 75231557 + 75545382 75561556 + 6480464 16713569;15197164;14702039;12477932;12107410;10737800;10048485;21145461;16385451;21987572;21139048;22586326 23053 H0YCW2;H7BZ52;H7BZW8;H7C180;H7C214;H7C2Y4;H7C453;Q9H8F3 AB020720;ABBA01020308;AC022400;AK023742;AK091621;AK309136;AL133662;AMYH01002830;AW997845;BC036835;BC040726;BC063694;BC111006;BC117205;BC137249;BC137250;BC151206;BM193415;CA390537;CF272587;CH471083;NM_001242487;NM_001242488;NM_015037 A7E2V4;AAH36835;AAH40726;AAH63694;AAI11007;AAI17206;AAI37250;AAI37251;AAI51207;AAI56551;BAA74936;BAB14664;BAC03709;EAW54521;EAW54522;EAW54523;EAW54524;NP_001229416;NP_001229417;NP_055852 Hs.65135 1712334;1745805;1774241;1778406;1778834;2166491;2166493;2189491;5015961 A002M12;A006I22;D15S1477;G20846;G54076;GDB:642165;MARC_7515-7516:992008422:1;RH79148;WI-21009 FLJ34302;KIAA0913;MGC168869;MGC168870 4832404P21Rik;OTTHUMP00000019837;hypothetical protein LOC23053;zinc finger SWIM domain-containing protein 8;zinc finger SWIM domain-containing protein KIAA0913 APPROVED protein-coding ENSG00000214655 23528 17199;17316 VALIDATED 1319405 ZW10 zw10 kinetochore protein This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011] 11 11 q23.2 113109119 113149635 - 113603905 113644485 - 1580863;6480464 9700164;11146660;12686595;16354670;15029241;9298984;15485811;18782227;18268100;18065224;17699596;17680027;17560939;16732327;16571679;16565220;16505164;15824131;15272311;15094189;12665801;11590237;10806105;17353931;11682612;12477932;19369418;19468067;16341674;22863883;21832049;22939629;21345172;21139048;21906983;19850743;20360068;20696768;19229290 9183 A1A528;F5H3C1;O43264 ABBA01039782;AK300746;AK303871;AK312925;AMYH01004039;AP002436;AP003170;BC128264;BI547129;BM833775;BQ773926;CH471065;DB506745;NM_004724;U54996 AAB88237;AAI28265;BAG35769;BAG62415;BAG64809;EAW67229;NP_004715;O43264 Hs.503886 1669884;1850232;2108683 RH12322;WI-14184;ZW10_8911 HZW10;KNTC1AP;MGC149821 OTTHUMP00000238248;OTTHUMP00000238249;ZW10 homolog, centromere/kinetochore protein;ZW10, kinetochore associated, homolog;centromere/kinetochore protein zw10 homolog;zeste white 10 homolog;zw10 homolog, centromere/kinetochore protein (drosophila) APPROVED protein-coding ENSG00000086827 13194 04902 603954 REVIEWED 3497392 ZYG11AP1 zyg-11 family member A, cell cycle regulator pseudogene 1 9 9 9 q31.1 75877260 75878125 - 104413198 104582315 - 105373386 105374251 - 22889924 100131879 ABBA01042857;AL354701;AL450312;AMYH01021584;NG_021631 1707444;1752299 SHGC-106282;SHGC-84516 APPROVED pseudo 38032 INFERRED 1602882 ZWILCH zwilch kinetochore protein 15 15 15 q22.31 43686777 43729897 + 64584485 64628877 + 66797431 66841823 + 6480464 12686595;15824131;19008095;14702039;12477932;20800603;22939629;21139048;21906983;20360068 55055 H3BPI7;H3BQ07;H3BSG1;Q9H900 ABBA01038815;ABBA01038816;ABBA01038817;ABBA01038818;ABBA01038819;AC116913;AK000898;AK023175;AK027468;AK122787;AK291048;AMYH01006723;AMYH01006724;BC036900;BC090041;BQ775697;BX640701;CH471082;NM_017975;NR_003105 AAH36900;AAH90041;BAB14446;BAB55133;BAF83737;BAG53730;CAE45821;EAW77777;EAW77778;EAW77779;NP_060445;Q9H900 Hs.21331 1778007 RH15756 FLJ10036;FLJ16343;KNTC1AP;MGC111034;hZwilch OTTHUMP00000164250;Zwilch, kinetochore associated, homolog;homolog of Drosophila Zwilch;protein zwilch homolog APPROVED protein-coding ENSG00000174442 25468 07640 609984 VALIDATED 1601783 ZYG11A zyg-11 family member A, cell cycle regulator 1 1 1 p32.3 51595673 51648060 + 53080996 53131217 + 53308183 53360247 + 12477932;21890473 440590 Q6WRX3 ABBA01074753;ABBA01074754;ABBA01074755;ABBA01074756;ABBA01074757;ABBA01074758;AC099677;AI638616;AMYH01000623;AMYH01000624;AY271826;BC119789;BC119815;CH471059;NM_001004339 AAQ01753;EAX06770;NP_001004339;Q6WRX3 Hs.658458 5015861;5016596;5022578;5022651;5037552;7185938 D10S16;D11S2921;D1S1423;D8S2279;GDB:631802 ZYG11 OTTHUMP00000082752;OTTHUMP00000082753;ZYG-11A early embryogenesis protein;protein zyg-11 homolog A;zyg-11 homolog A APPROVED protein-coding ENSG00000203995 32058 17399 VALIDATED 1607003 ZXDC ZXD family zinc finger C 3 3 3 q21.3 124581266 124619586 - 127639134 127677452 - 126156444 126194762 - 6480464 17493635;17696781;16600381;14702039;12975309;12477932;9110174;8619474;15604093;19777325;20379614;21832049;21900206 79364 H0YAA9;Q2QGD7 ABBA01016392;AC024558;AC073439;AF131763;AK023923;AK092101;AK093796;AK095149;AK098501;AL390142;AMYH01013450;AW512405;AY277596;AY358102;AY936556;BC002940;BC012729;BC063713;BC073859;BC110644;CH471052;DQ079590;FJ980275;NM_001040653;NM_025112 AAH02940;AAH12729;AAH73859;AAQ18035;AAQ88469;AAX23974;AAZ30918;ABZ92056;ACR56328;BAB14726;BAC03805;CAH10665;EAW79361;NP_001035743;NP_079388;Q2QGD7 Hs.440049;Hs.711046 1654607;1657199;1719167;1723069;1725737;1735216;1735272;1761741;1848738;1854821;2120814;2120816;2135226;2135510;2143159;2161232;2173451;2176405;5014051;5015619;5015961;5022200;5037552;5091177;5109281;5118444 A001X43;A005B26;D11S3114;D11S3316;D15S1477;D1S1425;D3S2875E;D3S2880E;D3S2925E;D8S2278;D8S2279;G19764;G31451;G62060;L18426;NIB2274;RH121886;RH123301;RH12895;RH18464;SHGC-145713;SHGC-24069;SHGC-36199;SHGC-77298;SHGC-77320;SHGC-77323 DKFZp547N024;FLJ13861;FLJ36477;FLJ37830;MGC11349;ZXDL OTTHUMP00000222635;OTTHUMP00000222636;OTTHUMP00000222637;SERH2790;ZXD-like zinc finger protein;zinc finger protein ZXDC protein-coding ENSG00000070476 28160 14420 VALIDATED 1316997 ZUFSP zinc finger with UFM1-specific peptidase domain 6 6 6 q22.1 117699849 117733039 - 117063474 117096652 - 116956781 116989973 - 6480464 16189514;15489334;14702039;14574404;12477932;21987572;23142642;21139048;21890473;21906983;22505724 221302 Q96AP4 ABBA01026045;AK054582;AK307523;AL132795;AMYH01016617;BC015420;BC016879;BX537872;CH471051;DB461344;NM_145062 AAH15420;AAH16879;BAB70765;CAD97873;EAW48217;EAW48218;NP_659499;Q96AP4 Hs.29857 C6orf113;RP3-412I7.3;dJ412I7.3 OTTHUMP00000017072;chromosome 6 open reading frame 113;zinc finger with UFM1-specific peptidase domain protein protein-coding ENSG00000153975 21224 12840 VALIDATED 1347860 ZXDA zinc finger, X-linked, duplicated A This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009] X X X p11.1 62244411 62249414 + 57950922 57953792 - 57931864 57937067 - 1580863;6480464 17493635;16964243;15772651;15489334;14702039;12477932;8268913;17696781;19377476;19777325 7789 P98168 ABBA01015314;AK122815;AK292686;AL034396;AMYH01022467;AMYH01022468;BC059356;L14787;NG_015974;NM_007156 AAC37521;AAH59356;ABZ92265;BAF85375;NP_009087;P98168 Hs.550094 1702362;1767283;1793434;2158367;2185893 DXS8275;GDB:454797;PMC22091P3;STS-L14787;WI-18750 ZNF896 OTTHUMP00000023422;zinc finger X-linked protein ZXDA;zinc finger protein 896 APPROVED protein-coding ENSG00000198205 13198 02210 300235 REVIEWED 1351388 ZZZ3 zinc finger, ZZ-type containing 3 1 1 1 p31.1 76269714 76387851 - 77802776 77920931 - 78030190 78148343 - 737633;6480464 12477932 14702039;19505873;16428443;20211142;20508642;21900206;21693764;21304275;18838386 26009 C9J283;C9JUA4;Q8IYH5 ABBA01074398;ABBA01074399;AC093575;AC114487;AC118549;AK001224;AK074119;AK310514;AL080063;AMYH01000722;BC035079;BC035397;BC035818;BX640658;BX640766;BX641001;BX641096;CH471059;NM_015534 AAH35079;AAH35397;AAH35818;ADZ15694;ADZ15730;BAB84945;CAB45694;CAE45800;CAE45870;CAE46004;EAX06372;EAX06373;EAX06374;EAX06375;EAX06376;NP_056349;Q8IYH5 Hs.480506 1663842;1677324;1708224;1715847;1755907;1851991;2116468;2142348;2155904;2169603;5019721;5019811;5094890 A008Z12;A009K06;A009X17;D1S1611;G32603;G32941;RH119617;RH91759;SHGC-142743;SHGC-75026;SHGC-75041;SHGC-79372;ZZZ3 ATAC1;DKFZp313N0119;DKFZp564I052;FLJ10362 ATAC component 1 homolog;OTTHUMP00000011235;OTTHUMP00000011236;ZZ-type zinc finger-containing protein 3 protein-coding ENSG00000036549 24523 15907 PROVISIONAL 1322516 ZZEF1 zinc finger, ZZ-type with EF-hand domain 1 17 17 17 p13.2 3919547 4057833 - 3854488 3993002 - 3907739 4046253 - 737633;6480464 12477932 14702039;9455477;16169070;15231748;20379614;22863883;21139048;21890473;22505724 23140 I3L141;I3L1Q8;I3L2N1;I3L3Q3;O43149 AB007859;ABBA01054754;ABBA01054755;AC067815;AC087292;AI205543;AK001683;AK122719;AK124719;AK127482;AK128386;AL831960;AMYH01008033;AMYH01008034;AMYH01008035;BC035319;BC047285;BC067099;BC151836;BG751247;NM_015113 AAH67099;AAI51837;BAA23695;BAA91834;BAC86999;CAD38602;NP_055928;O43149 Hs.277624 1678145;1756303;1848439;2133476;2172033;5014051;5015619;5019589;5037552;5092426;5092448;5092458 D11S3114;D8S2278;D8S2279;G54289;G54295;G54309;G54319;RH18035;RH18353;SGC31871;SHGC-143249;SHGC-31444 FLJ10821;FLJ23789;FLJ45574;KIAA0399;MGC166929;ZZZ4 OTTHUMP00000115929;zinc finger ZZ-type and EF-hand domain-containing protein 1 protein-coding ENSG00000074755 29027 15906 VALIDATED 1347195 ZWINT ZW10 interactor, kinetochore protein This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] 10 10 10 q21-q22 51380359 51384194 - 57787205 57791040 - 58117199 58121034 - 1580863;6480464 15485811;15504738;19008095;18268100;17373700;16732327;15824131;15502821;15489334;15094189;14702039;12477932;10806105;8889548;8125298;15371340;20562859;11682612;21348951;22990118;21345172;20360068;21775627;21900206;22023800;20639865;20231385;21139048;21890473;21906983;21832049;17974975;17981135;21199919;22053931;22505724 11130 A6NH27;O95229;R4GMS7 ABBA01019418;AC010996;AF067656;AK093808;AK225509;AK293416;AK298148;AMYH01002763;BC000411;BC016357;BC020979;BC110399;BG615304;BM724168;CH471083;NM_001005413;NM_007057;NM_032997 AAC78629;AAH00411;AAH20979;AAI10400;ADZ15895;BAG52767;BAG56923;BAG60424;EAW54154;EAW54155;EAW54156;EAW54157;EAW54158;EAW54159;NP_001005413;NP_008988;NP_127490;O95229 Hs.591363 1857084 STS-H99221 HZwint-1;KNTC2AP;MGC117174;ZWINT1 OTTHUMP00000019626;OTTHUMP00000019628;ZW10 interactor;ZW10-interacting protein 1;human ZW10 interacting protein-1;zwint-1 APPROVED protein-coding ENSG00000122952 13195 18366 609177 REVIEWED 1606215 ZYG11B zyg-11 family member B, cell cycle regulator 1 1 1 p32.3 51478879 51580505 + 52964769 53063913 + 53192131 53293014 + 6480464 17304241;14702039;12477932;11214970;21145461;19615732;21987572;21139048;21906983;19322201;22797925 79699 A8DPD7;B4DK95;Q9C0D3 AB051517;ABBA01074758;ABBA01074759;ABBA01074760;ABBA01074761;ABBA01074762;ABBA01074763;AC099784;AK023518;AK025056;AK056645;AK095643;AK296460;AL139255;AMYH01000621;AMYH01000622;AMYH01000623;BC029832;BX647643;CH471059;DQ646393;NM_024646 AAH29832;ABG34237;BAB14596;BAB21821;BAG53097;BAG59107;EAX06771;NP_078922;Q9C0D3 Hs.476280 1645787;1654479;1655288;1657252;1774717;2121644;2171528;2171530;5015619;5015861;5016478;5019839;5020948;5022463;5022651;5037552;7185938 A005U32;A010A29;D10S16;D11S2921;D11S3114;D1S2589;D3S1673;D8S2279;G20515;G33051;G35510;GDB:434012;HSC2BC082;RH64620;SHGC-74835;SHGC-74852 FLJ13456;ZYG11 OTTHUMP00000010491;protein zyg-11 homolog B;zyg-11 homolog B APPROVED protein-coding ENSG00000162378 25820 13356 VALIDATED 1347879 ZYX zyxin Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008] 7 7 q32 142788482 142798326 + 143078360 143088204 + 1580863;6480464;6484113 10882740;10851246;10801818;10224105;9784834;9730620;9367993;8917469;8622875;7696985;7644520;12672821;12659632;10831611;8940160;18297730;18682496;18029348;17081983;16964243;16956606;16713569;16510139;15748890;15489334;15302935;15231748;15084601;15004028;12853948;12695497;12690205;12477932;11841540;11782456;11689660;11423549;10978534;21248071;20705921;20936779;19690217;19853601;19913121;20628086;21360639;21486952;22863883;22939629;21889443;21900206;22056563;12417594;21139048;21890473;21906983;16503656;22286099;17620599;22395610;19738201;23000965;23233529;23321499;23292068;23330981;22778267 7791 B4DQR8;B4DQX7;C9IZ41;C9JJK5;H0Y2Y8;H7C3D3;H7C3R3;Q15942;Q96AF9 AACC02000107;ABBA01034136;AC092214;AK130138;AK298925;AK299005;AK302309;AK316227;AMYH01018007;BC002323;BC008743;BC009360;BC010031;BC017183;BU844538;CH236959;CH471198;CR457431;HI573962;HI573964;NM_001010972;NM_003461;U15158;X94991;X95735 AAA78902;AAH02323;AAH08743;AAH09360;AAH10031;AAH17183;AAS07459;ABM83851;ABM87173;BAG61030;BAG61089;BAG63647;BAH14598;CAA64447;CAA65050;CAG33712;CBX47470;CBX47471;EAL23788;EAW51848;EAW51849;EAW51850;EAW51851;NP_001010972;NP_003452;Q15942 Hs.490415 1688833;1739349;1849630;1849764;2110097;2129683;2162887;5121846 D20S1007;D7S2295E;G10664;GDB:4585720;RH12060;RH47177;RH69086;ZYX_3067 ESP-2;HED-2 OTTHUMP00000081863;OTTHUMP00000208858;OTTHUMP00000208859;zyxin;zyxin-2 APPROVED protein-coding ENSG00000159840 13200 03592 602002 REVIEWED